#CHROM	POS	REF	ALT	SNV	GENE	VARIATION	CODING	EFFECT
1	943995	C	T	C943995T	SAMD11	NM_152486.4(SAMD11):c.1888C>T:p.Arg630Ter	coding	Pathogenic
1	944101	G	C	G944101C	SAMD11	NM_152486.3(SAMD11):c.1994G>C:p.Gly665Ala	coding	Benign
1	945564	G	A	G945564A	NOC2L	NM_015658.4(NOC2L):c.2007C>T:p.Asp669=	coding	Benign
1	952029	G	C	G952029C	NOC2L	NM_015658.4(NOC2L):c.1302C>G:p.Pro434=	coding	Benign
1	952609	A	G	A952609G	NOC2L	NM_015658.4(NOC2L):c.1003-9T>C	noncoding	Benign
1	954070	C	A	C954070A	NOC2L	NM_015658.4(NOC2L):c.711G>T:p.Pro237=	coding	Benign
1	956990	T	C	T956990C	NOC2L	NM_015658.4(NOC2L):c.390A>G:p.Gly130=	coding	Benign
1	957132	C	T	C957132T	NOC2L	NM_015658.4(NOC2L):c.321G>A:p.Glu107=	coding	Benign
1	962346	C	T	C962346T	KLHL17	NM_198317.3(KLHL17):c.712-9C>T	noncoding	Benign
1	962739	C	T	C962739T	KLHL17	NM_198317.3(KLHL17):c.864C>T:p.Arg288=	coding	Benign
1	963233	C	T	C963233T	KLHL17	NM_198317.3(KLHL17):c.1167C>T:p.Asn389=	coding	Benign
1	963472	C	T	C963472T	KLHL17	NM_198317.3(KLHL17):c.1323C>T:p.Ala441=	coding	Benign
1	965059	G	A	G965059A	KLHL17	NM_198317.3(KLHL17):c.1797G>A:p.Pro599=	coding	Benign
1	966542	G	A	G966542A	PLEKHN1	NM_032129.3(PLEKHN1):c.11G>A:p.Ser4Asn	coding	Benign
1	966543	C	A	C966543A	PLEKHN1	NM_032129.3(PLEKHN1):c.12C>A:p.Ser4Arg	coding	Benign
1	970514	C	T	C970514T	PLEKHN1	NM_032129.3(PLEKHN1):c.331-7C>T	noncoding	Benign
1	972895	G	A	G972895A	PLEKHN1	NM_032129.3(PLEKHN1):c.1037G>A:p.Gly346Asp	coding	Benign
1	973842	G	A	G973842A	PLEKHN1	NM_032129.3(PLEKHN1):c.1444G>A:p.Ala482Thr	coding	Benign
1	1014042	G	A	G1014042A	ISG15	NM_005101.4(ISG15):c.62G>A:p.Ser21Asn	coding	Benign
1	1014058	A	G	A1014058G	ISG15	NM_005101.4(ISG15):c.78A>G:p.Ser26=	coding	Benign
1	1014143	C	T	C1014143T	ISG15	NM_005101.4(ISG15):c.163C>T:p.Gln55Ter	coding	Pathogenic
1	1014217	C	T	C1014217T	ISG15	NM_005101.4(ISG15):c.237C>T:p.Asp79=	coding	Benign
1	1014228	G	A	G1014228A	ISG15	NM_005101.4(ISG15):c.248G>A:p.Ser83Asn	coding	Benign
1	1014359	G	T	G1014359T	ISG15	NM_005101.4(ISG15):c.379G>T:p.Glu127Ter	coding	Pathogenic
1	1014451	C	T	C1014451T	ISG15	NM_005101.4(ISG15):c.471C>T:p.Gly157=	coding	Benign
1	1014457	A	G	A1014457G	ISG15	NM_005101.4(ISG15):c.477A>G:p.Thr159=	coding	Benign
1	1019833	T	C	T1019833C	AGRN	NC_000001.11:g.1019833T>C	noncoding	Benign
1	1020183	G	C	G1020183C	AGRN	NM_198576.4(AGRN):c.11G>C:p.Arg4Pro	coding	Benign/Likely_benign
1	1020217	G	T	G1020217T	AGRN	NM_198576.4(AGRN):c.45G>T:p.Pro15=	coding	Benign
1	1022188	A	G	A1022188G	AGRN	NM_198576.4(AGRN):c.202-13A>G	noncoding	Benign
1	1022225	G	A	G1022225A	AGRN	NM_198576.4(AGRN):c.226G>A:p.Gly76Ser	coding	Pathogenic
1	1022260	C	T	C1022260T	AGRN	NM_198576.4(AGRN):c.261C>T:p.Asp87=	coding	Benign
1	1022313	A	T	A1022313T	AGRN	NM_198576.4(AGRN):c.314A>T:p.Asn105Ile	coding	Pathogenic
1	1022518	G	T	G1022518T	AGRN	NM_198576.4(AGRN):c.463+56G>T	noncoding	Benign
1	1035037	A	C	A1035037C	AGRN	NM_198576.4(AGRN):c.464-240A>C	noncoding	Benign
1	1035456	G	A	G1035456A	AGRN	NM_198576.4(AGRN):c.511+132G>A	noncoding	Benign
1	1040732	G	A	G1040732A	AGRN	NM_198576.4(AGRN):c.579G>A:p.Ala193=	coding	Benign
1	1041174	C	G	C1041174G	AGRN	NM_198576.4(AGRN):c.729C>G:p.Gly243=	coding	Benign
1	1041183	C	T	C1041183T	AGRN	NM_198576.4(AGRN):c.738C>T:p.Asp246=	coding	Benign/Likely_benign
1	1041218	C	T	C1041218T	AGRN	NM_198576.4(AGRN):c.773C>T:p.Thr258Ile	coding	Benign/Likely_benign
1	1041249	C	T	C1041249T	AGRN	NM_198576.4(AGRN):c.804C>T:p.Ala268=	coding	Benign
1	1041582	C	T	C1041582T	AGRN	NM_198576.4(AGRN):c.1057C>T:p.Gln353Ter	coding	Pathogenic
1	1041583	A	G	A1041583G	AGRN	NM_198576.4(AGRN):c.1058A>G:p.Gln353Arg	coding	Benign
1	1041648	G	T	G1041648T	AGRN	NM_198576.4(AGRN):c.1123G>T:p.Ala375Ser	coding	Benign/Likely_benign
1	1041823	G	C	G1041823C	AGRN	NM_198576.4(AGRN):c.1177+121G>C	noncoding	Benign
1	1041950	T	C	T1041950C	AGRN	NM_198576.4(AGRN):c.1178-6T>C	noncoding	Benign
1	1042053	C	G	C1042053G	AGRN	NM_198576.4(AGRN):c.1275C>G:p.Tyr425Ter	coding	Pathogenic
1	1042190	G	A	G1042190A	AGRN	NM_198576.4(AGRN):c.1384+28G>A	noncoding	Benign
1	1042400	C	T	C1042400T	AGRN	NM_198576.4(AGRN):c.1384+238C>T	noncoding	Benign
1	1043288	G	A	G1043288A	AGRN	NM_198576.4(AGRN):c.1434G>A:p.Thr478=	coding	Benign
1	1043354	T	C	T1043354C	AGRN	NM_198576.4(AGRN):c.1500T>C:p.Pro500=	coding	Benign
1	1043382	G	A	G1043382A	AGRN	NM_198576.4(AGRN):c.1528G>A:p.Gly510Ser	coding	Benign/Likely_benign
1	1043467	G	A	G1043467A	AGRN	NM_198576.4(AGRN):c.1603+10G>A	noncoding	Benign
1	1043476	G	A	G1043476A	AGRN	NM_198576.4(AGRN):c.1603+19G>A	noncoding	Benign/Likely_benign
1	1043594	G	A	G1043594A	AGRN	NM_198576.4(AGRN):c.1660G>A:p.Val554Met	coding	Benign/Likely_benign
1	1043839	C	T	C1043839T	AGRN	NM_198576.4(AGRN):c.1815C>T:p.Ala605=	coding	Benign
1	1044134	C	G	C1044134G	AGRN	NM_198576.4(AGRN):c.2025C>G:p.Gly675=	coding	Benign
1	1044176	G	A	G1044176A	AGRN	NM_198576.4(AGRN):c.2067G>A:p.Gln689=	coding	Benign/Likely_benign
1	1044368	A	T	A1044368T	AGRN	NM_198576.4(AGRN):c.2183A>T:p.Glu728Val	coding	Benign
1	1044455	G	A	G1044455A	AGRN	NM_198576.4(AGRN):c.2254+16G>A	noncoding	Benign
1	1045080	G	A	G1045080A	AGRN	NM_198576.4(AGRN):c.2255-81G>A	noncoding	Benign
1	1045393	C	T	C1045393T	AGRN	NM_198576.4(AGRN):c.2406C>T:p.Gly802=	coding	Benign
1	1045444	G	C	G1045444C	AGRN	NM_198576.4(AGRN):c.2457G>C:p.Gly819=	coding	Benign/Likely_benign
1	1045487	C	T	C1045487T	AGRN	NM_198576.4(AGRN):c.2500C>T:p.Arg834Ter	coding	Pathogenic
1	1045495	C	T	C1045495T	AGRN	NM_198576.4(AGRN):c.2508C>T:p.Ile836=	coding	Benign
1	1045707	A	G	A1045707G	AGRN	NM_198576.4(AGRN):c.2537-26A>G	noncoding	Benign
1	1045751	A	G	A1045751G	AGRN	NM_198576.4(AGRN):c.2555A>G:p.Gln852Arg	coding	Benign
1	1045965	C	T	C1045965T	AGRN	NM_198576.4(AGRN):c.2682C>T:p.Asp894=	coding	Benign/Likely_benign
1	1046095	G	A	G1046095A	AGRN	NM_198576.4(AGRN):c.2805+7G>A	noncoding	Benign/Likely_benign
1	1046524	C	T	C1046524T	AGRN	NM_198576.4(AGRN):c.3039C>T:p.His1013=	coding	Benign
1	1046551	A	G	A1046551G	AGRN	NM_198576.4(AGRN):c.3066A>G:p.Ser1022=	coding	Benign
1	1046562	C	A	C1046562A	AGRN	NM_198576.4(AGRN):c.3077C>A:p.Thr1026Asn	coding	Benign/Likely_benign
1	1046833	G	C	G1046833C	AGRN	NM_198576.4(AGRN):c.3264G>C:p.Leu1088Phe	coding	Benign/Likely_benign
1	1046845	C	T	C1046845T	AGRN	NM_198576.4(AGRN):c.3276C>T:p.Ser1092=	coding	Benign
1	1046854	C	G	C1046854G	AGRN	NM_198576.4(AGRN):c.3285C>G:p.Thr1095=	coding	Benign/Likely_benign
1	1046922	C	A	C1046922A	AGRN	NM_198576.4(AGRN):c.3353C>A:p.Thr1118Lys	coding	Benign
1	1047064	A	G	A1047064G	AGRN	NM_198576.4(AGRN):c.3388+107A>G	noncoding	Benign
1	1047082	T	C	T1047082C	AGRN	NM_198576.4(AGRN):c.3388+125T>C	noncoding	Benign
1	1047133	T	C	T1047133C	AGRN	NM_198576.4(AGRN):c.3388+176T>C	noncoding	Benign
1	1047342	A	G	A1047342G	AGRN	NM_198576.4(AGRN):c.3404A>G:p.Gln1135Arg	coding	Benign
1	1047403	T	C	T1047403C	AGRN	NM_198576.4(AGRN):c.3465T>C:p.Ala1155=	coding	Benign/Likely_benign
1	1047464	G	C	G1047464C	AGRN	NM_198576.4(AGRN):c.3516+10G>C	noncoding	Benign
1	1047561	T	C	T1047561C	AGRN	NM_198576.4(AGRN):c.3517-12T>C	noncoding	Benign
1	1047614	T	C	T1047614C	AGRN	NM_198576.4(AGRN):c.3558T>C:p.Phe1186=	coding	Benign
1	1047626	C	T	C1047626T	AGRN	NM_198576.4(AGRN):c.3570C>T:p.Arg1190=	coding	Benign
1	1047786	C	T	C1047786T	AGRN	NM_198576.4(AGRN):c.3642C>T:p.Phe1214=	coding	Benign
1	1048025	G	A	G1048025A	AGRN	NM_198576.4(AGRN):c.3765G>A:p.Ala1255=	coding	Benign
1	1048079	C	T	C1048079T	AGRN	NM_198576.4(AGRN):c.3819C>T:p.Ala1273=	coding	Benign/Likely_benign
1	1048126	C	T	C1048126T	AGRN	NM_198576.4(AGRN):c.3866C>T:p.Pro1289Leu	coding	Benign/Likely_benign
1	1048224	C	T	C1048224T	AGRN	NM_198576.4(AGRN):c.3964C>T:p.Arg1322Trp	coding	Benign/Likely_benign
1	1048232	G	A	G1048232A	AGRN	NM_198576.4(AGRN):c.3972G>A:p.Pro1324=	coding	Benign
1	1048545	C	A	C1048545A	AGRN	NM_198576.4(AGRN):c.4105+180C>A	noncoding	Benign
1	1048636	G	A	G1048636A	AGRN	NM_198576.4(AGRN):c.4106-231G>A	noncoding	Benign
1	1048653	C	T	C1048653T	AGRN	NM_198576.4(AGRN):c.4106-214C>T	noncoding	Benign
1	1048681	C	T	C1048681T	AGRN	NM_198576.4(AGRN):c.4106-186C>T	noncoding	Benign
1	1048722	G	A	G1048722A	AGRN	NM_198576.4(AGRN):c.4106-145G>A	noncoding	Benign
1	1048822	A	G	A1048822G	AGRN	NM_198576.4(AGRN):c.4106-45A>G	noncoding	Benign
1	1048892	C	T	C1048892T	AGRN	NM_198576.4(AGRN):c.4131C>T:p.Phe1377=	coding	Benign/Likely_benign
1	1048900	G	A	G1048900A	AGRN	NM_198576.4(AGRN):c.4139G>A:p.Arg1380His	coding	Benign
1	1048922	T	C	T1048922C	AGRN	NM_198576.4(AGRN):c.4161T>C:p.Thr1387=	coding	Benign
1	1049046	C	T	C1049046T	AGRN	NM_198576.4(AGRN):c.4285C>T:p.Arg1429Cys	coding	Benign/Likely_benign
1	1049065	C	T	C1049065T	AGRN	NM_198576.4(AGRN):c.4298+6C>T	noncoding	Benign/Likely_benign
1	1049066	G	A	G1049066A	AGRN	NM_198576.4(AGRN):c.4298+7G>A	noncoding	Benign
1	1049070	A	T	A1049070T	AGRN	NM_198576.4(AGRN):c.4298+11A>T	noncoding	Benign/Likely_benign
1	1049260	G	A	G1049260A	AGRN	NM_198576.4(AGRN):c.4323G>A:p.Ala1441=	coding	Benign
1	1049289	C	T	C1049289T	AGRN	NM_198576.4(AGRN):c.4352C>T:p.Pro1451Leu	coding	Benign/Likely_benign
1	1049389	C	T	C1049389T	AGRN	NM_198576.4(AGRN):c.4452C>T:p.Thr1484=	coding	Benign
1	1049467	G	C	G1049467C	AGRN	NM_198576.4(AGRN):c.4514+16G>C	noncoding	Benign
1	1049508	A	G	A1049508G	AGRN	NM_198576.4(AGRN):c.4514+57A>G	noncoding	Benign
1	1049591	G	A	G1049591A	AGRN	NM_198576.4(AGRN):c.4540G>A:p.Ala1514Thr	coding	Benign/Likely_benign
1	1049746	G	C	G1049746C	AGRN	NM_198576.4(AGRN):c.4695G>C:p.Gln1565His	coding	Benign/Likely_benign
1	1049791	C	T	C1049791T	AGRN	NM_198576.4(AGRN):c.4740C>T:p.Arg1580=	coding	Benign
1	1049859	C	T	C1049859T	AGRN	NM_198576.4(AGRN):c.4745-44C>T	noncoding	Benign
1	1049886	C	T	C1049886T	AGRN	NM_198576.4(AGRN):c.4745-17C>T	noncoding	Benign
1	1049979	C	T	C1049979T	AGRN	NM_198576.4(AGRN):c.4821C>T:p.Pro1607=	coding	Benign
1	1049997	C	T	C1049997T	AGRN	NM_198576.4(AGRN):c.4839C>T:p.Cys1613=	coding	Benign/Likely_benign
1	1050066	G	T	G1050066T	AGRN	NM_198576.4(AGRN):c.4879+29G>T	noncoding	Benign
1	1050069	G	A	G1050069A	AGRN	NM_198576.4(AGRN):c.4879+32G>A	noncoding	Benign
1	1050080	T	C	T1050080C	AGRN	NM_198576.4(AGRN):c.4879+43T>C	noncoding	Benign
1	1050246	C	T	C1050246T	AGRN	NM_198576.4(AGRN):c.4893C>T:p.Asp1631=	coding	Benign
1	1050417	A	G	A1050417G	AGRN	NM_198576.4(AGRN):c.4977-10A>G	noncoding	Benign
1	1050446	G	A	G1050446A	AGRN	NM_198576.4(AGRN):c.4996G>A:p.Val1666Ile	coding	Benign
1	1050473	G	A	G1050473A	AGRN	NM_198576.4(AGRN):c.5023G>A:p.Gly1675Ser	coding	Pathogenic
1	1050475	C	T	C1050475T	AGRN	NM_198576.4(AGRN):c.5025C>T:p.Gly1675=	coding	Benign
1	1050520	C	T	C1050520T	AGRN	NM_198576.4(AGRN):c.5070C>T:p.Phe1690=	coding	Benign
1	1050575	G	C	G1050575C	AGRN	NM_198576.4(AGRN):c.5125G>C:p.Gly1709Arg	coding	Pathogenic
1	1050619	G	T	G1050619T	AGRN	NM_198576.4(AGRN):c.5141+28G>T	noncoding	Benign
1	1050763	G	T	G1050763T	AGRN	NM_198576.4(AGRN):c.5179G>T:p.Val1727Phe	coding	Pathogenic
1	1050807	C	T	C1050807T	AGRN	NM_198576.4(AGRN):c.5223C>T:p.Gly1741=	coding	Benign
1	1050905	C	T	C1050905T	AGRN	NM_198576.4(AGRN):c.5253+68C>T	noncoding	Benign
1	1051063	C	T	C1051063T	AGRN	NM_198576.4(AGRN):c.5254-190C>T	noncoding	Benign
1	1051248	C	T	C1051248T	AGRN	NM_198576.4(AGRN):c.5254-5C>T	coding	Benign/Likely_benign
1	1051351	C	T	C1051351T	AGRN	NM_198576.4(AGRN):c.5352C>T:p.Phe1784=	coding	Benign
1	1051357	T	C	T1051357C	AGRN	NM_198576.4(AGRN):c.5358T>C:p.Gly1786=	coding	Benign
1	1051548	A	G	A1051548G	AGRN	NM_198576.4(AGRN):c.5466A>G:p.Ser1822=	coding	Benign
1	1051632	G	A	G1051632A	AGRN	NM_198576.4(AGRN):c.5550G>A:p.Pro1850=	coding	Benign
1	1051762	C	T	C1051762T	AGRN	NM_198576.4(AGRN):c.5598C>T:p.Thr1866=	coding	Benign
1	1051811	G	A	G1051811A	AGRN	NM_198576.4(AGRN):c.5647G>A:p.Glu1883Lys	coding	Benign/Likely_benign
1	1051820	C	T	C1051820T	AGRN	NM_198576.4(AGRN):c.5651+5C>T	noncoding	Benign
1	1053552	G	C	G1053552C	AGRN	NM_198576.4(AGRN):c.5652-201G>C	noncoding	Benign
1	1053768	G	A	G1053768A	AGRN	NM_198576.4(AGRN):c.5667G>A:p.Gln1889=	coding	Benign
1	1053827	G	C	G1053827C	AGRN	NM_198576.4(AGRN):c.5726G>C:p.Ser1909Thr	coding	Benign/Likely_benign
1	1053915	C	T	C1053915T	AGRN	NM_198576.4(AGRN):c.5814C>T:p.Pro1938=	coding	Benign
1	1053933	C	T	C1053933T	AGRN	NM_198576.4(AGRN):c.5832C>T:p.Thr1944=	coding	Benign/Likely_benign
1	1054467	C	T	C1054467T	AGRN	NM_198576.4(AGRN):c.5896C>T:p.Leu1966=	coding	Benign/Likely_benign
1	1054900	C	T	C1054900T	AGRN	NM_198576.4(AGRN):c.6057C>T:p.Asp2019=	coding	Benign
1	1054917	A	G	A1054917G	AGRN	NM_198576.4(AGRN):c.6074A>G:p.His2025Arg	coding	Benign/Likely_benign
1	1055000	C	T	C1055000T	AGRN	NM_198576.4(AGRN):c.*19C>T	noncoding	Benign
1	1211585	G	A	G1211585A	TNFRSF4	NM_003327.4(TNFRSF4):c.804C>T:p.Ala268=	coding	Benign
1	1211958	G	A	G1211958A	TNFRSF4	NM_003327.4(TNFRSF4):c.618C>T:p.Pro206=	coding	Benign
1	1212042	C	T	C1212042T	TNFRSF4	NM_003327.4(TNFRSF4):c.534G>A:p.Glu178=	coding	Benign
1	1212105	C	T	C1212105T	TNFRSF4	NM_003327.4(TNFRSF4):c.471G>A:p.Pro157=	coding	Benign
1	1212129	C	T	C1212129T	TNFRSF4	NM_003327.4(TNFRSF4):c.447G>A:p.Leu149=	coding	Benign
1	1213065	G	A	G1213065A	TNFRSF4	NM_003327.4(TNFRSF4):c.297C>T:p.Cys99=	coding	Benign
1	1213738	G	A	G1213738A	TNFRSF4	NM_003327.4(TNFRSF4):c.193C>T:p.Arg65Cys	coding	Pathogenic
1	1214086	C	T	C1214086T	TNFRSF4	NM_003327.4(TNFRSF4):c.42G>A:p.Ala14=	coding	Benign
1	1214100	G	A	G1214100A	TNFRSF4	NM_003327.4(TNFRSF4):c.28C>T:p.Arg10Cys	coding	Benign
1	1228668	C	T	C1228668T	SDF4	NM_016176.4(SDF4):c.126G>A:p.Ser42=	coding	Benign
1	1232279	A	G	A1232279G	B3GALT6	NM_080605.4(B3GALT6):c.1A>G:p.Met1Val	coding	Pathogenic
1	1232294	C	T	C1232294T	B3GALT6	NM_080605.4(B3GALT6):c.16C>T:p.Arg6Trp	coding	Pathogenic
1	1232387	G	A	G1232387A	B3GALT6	NM_080605.4(B3GALT6):c.109G>A:p.Gly37Arg	coding	Benign
1	1232416	C	T	C1232416T	B3GALT6	NM_080605.4(B3GALT6):c.138C>T:p.Ser46=	coding	Benign/Likely_benign
1	1232471	A	G	A1232471G	B3GALT6	NM_080605.4(B3GALT6):c.193A>G:p.Ser65Gly	coding	Pathogenic
1	1232478	C	T	C1232478T	B3GALT6	NM_080605.4(B3GALT6):c.200C>T:p.Pro67Leu	coding	Pathogenic
1	1232666	G	A	G1232666A	B3GALT6	NM_080605.4(B3GALT6):c.388G>A:p.Glu130Lys	coding	Benign
1	1232744	G	A	G1232744A	B3GALT6	NM_080605.4(B3GALT6):c.466G>A:p.Asp156Asn	coding	Pathogenic
1	1232754	C	A	C1232754A	B3GALT6	NM_080605.4(B3GALT6):c.476C>A:p.Ser159Tyr	coding	Pathogenic
1	1232761	G	A	G1232761A	B3GALT6	NM_080605.4(B3GALT6):c.483G>A:p.Ala161=	coding	Benign/Likely_benign
1	1232763	G	A	G1232763A	B3GALT6	NM_080605.4(B3GALT6):c.485G>A:p.Arg162Gln	coding	Benign
1	1232800	G	C	G1232800C	B3GALT6	NM_080605.4(B3GALT6):c.522G>C:p.Glu174Asp	coding	Benign
1	1232823	A	G	A1232823G	B3GALT6	NM_080605.4(B3GALT6):c.545A>G:p.Tyr182Cys	coding	Pathogenic
1	1232834	T	C	T1232834C	B3GALT6	NM_080605.4(B3GALT6):c.556T>C:p.Phe186Leu	coding	Pathogenic
1	1232896	C	G	C1232896G	B3GALT6	NM_080605.4(B3GALT6):c.618C>G:p.Cys206Trp	coding	Pathogenic
1	1232897	G	C	G1232897C	B3GALT6	NM_080605.4(B3GALT6):c.619G>C:p.Asp207His	coding	Pathogenic
1	1232927	G	A	G1232927A	B3GALT6	NM_080605.4(B3GALT6):c.649G>A:p.Gly217Ser	coding	Pathogenic
1	1232972	C	T	C1232972T	B3GALT6	NM_080605.4(B3GALT6):c.694C>T:p.Arg232Cys	coding	Pathogenic
1	1233177	G	C	G1233177C	B3GALT6	NM_080605.4(B3GALT6):c.899G>C:p.Cys300Ser	coding	Pathogenic
1	1233187	G	A	G1233187A	B3GALT6	NM_080605.4(B3GALT6):c.909G>A:p.Glu303=	coding	Benign/Likely_benign
1	1233203	T	A	T1233203A	B3GALT6	NM_080605.4(B3GALT6):c.925T>A:p.Ser309Thr	coding	Pathogenic
1	1242601	C	T	C1242601T	C1QTNF12	NM_001014980.3(C1QTNF12):c.856G>A:p.Val286Ile	coding	Benign
1	1242864	G	C	G1242864C	C1QTNF12	NM_001014980.3(C1QTNF12):c.781C>G:p.Leu261Val	coding	Benign
1	1242886	C	T	C1242886T	C1QTNF12	NM_001014980.3(C1QTNF12):c.759G>A:p.Glu253=	coding	Benign
1	1311922	G	A	G1311922A	INTS11	NM_017871.6(INTS11):c.1740C>T:p.Asp580=	coding	Benign
1	1314938	G	A	G1314938A	INTS11	NM_017871.6(INTS11):c.588C>T:p.Arg196=	coding	Benign
1	1331483	C	T	C1331483T	TAS1R3	NM_152228.3(TAS1R3):c.138C>T:p.Ala46=	coding	Benign
1	1332630	G	T	G1332630T	TAS1R3	NM_152228.3(TAS1R3):c.1099G>T:p.Gly367Cys	coding	Benign
1	1332677	C	T	C1332677T	TAS1R3	NM_152228.3(TAS1R3):c.1146C>T:p.Ser382=	coding	Benign
1	1332968	G	A	G1332968A	TAS1R3	NM_152228.3(TAS1R3):c.1323G>A:p.Pro441=	coding	Benign
1	1333082	G	A	G1333082A	TAS1R3	NM_152228.3(TAS1R3):c.1437G>A:p.Arg479=	coding	Benign
1	1333696	A	C	A1333696C	TAS1R3	NM_152228.3(TAS1R3):c.1791A>C:p.Pro597=	coding	Benign
1	1336307	G	A	G1336307A	DVL1	NM_001330311.2(DVL1):c.1923C>T:p.Leu641=	coding	Benign
1	1336373	A	C	A1336373C	DVL1	NM_001330311.2(DVL1):c.1857T>G:p.Arg619=	coding	Benign
1	1336428	C	A	C1336428A	DVL1	NM_001330311.2(DVL1):c.1802G>T:p.Gly601Val	coding	Benign
1	1337969	G	C	G1337969C	DVL1	NM_001330311.2(DVL1):c.1714+8C>G	noncoding	Benign
1	1338315	G	T	G1338315T	DVL1	NM_001330311.2(DVL1):c.1461C>A:p.Ile487=	coding	Benign
1	1338640	C	T	C1338640T	DVL1	NM_001330311.2(DVL1):c.1221G>A:p.Ala407=	coding	Benign
1	1339390	C	T	C1339390T	DVL1	NM_001330311.2(DVL1):c.1104G>A:p.Ala368=	coding	Benign
1	1339414	G	A	G1339414A	DVL1	NM_001330311.2(DVL1):c.1080C>T:p.Pro360=	coding	Benign
1	1339589	G	A	G1339589A	DVL1	NM_001330311.2(DVL1):c.1047C>T:p.Val349=	coding	Benign
1	1339592	G	A	G1339592A	DVL1	NM_001330311.2(DVL1):c.1044C>T:p.Thr348=	coding	Benign
1	1339820	G	A	G1339820A	DVL1	NM_001330311.2(DVL1):c.910-8C>T	noncoding	Benign
1	1340089	G	A	G1340089A	DVL1	NM_001330311.2(DVL1):c.858C>T:p.Gly286=	coding	Benign
1	1340183	G	A	G1340183A	DVL1	NM_001330311.2(DVL1):c.770-6C>T	noncoding	Benign
1	1340237	G	A	G1340237A	DVL1	NM_001330311.2(DVL1):c.769+10C>T	noncoding	Benign
1	1340269	G	A	G1340269A	DVL1	NM_001330311.2(DVL1):c.747C>T:p.Ile249=	coding	Benign
1	1340308	G	A	G1340308A	DVL1	NM_001330311.2(DVL1):c.708C>T:p.Ser236=	coding	Benign
1	1340424	G	C	G1340424C	DVL1	NM_001330311.2(DVL1):c.685C>G:p.Arg229Gly	coding	Benign
1	1341741	G	A	G1341741A	DVL1	NM_001330311.2(DVL1):c.531C>T:p.Ser177=	coding	Benign
1	1341799	C	T	C1341799T	DVL1	NM_001330311.2(DVL1):c.473G>A:p.Arg158Gln	coding	Benign
1	1341804	G	A	G1341804A	DVL1	NM_001330311.2(DVL1):c.468C>T:p.Ala156=	coding	Benign
1	1342356	T	A	T1342356A	DVL1	NM_001330311.2(DVL1):c.362+7A>T	noncoding	Benign
1	1342440	G	A	G1342440A	DVL1	NM_001330311.2(DVL1):c.285C>T:p.Gly95=	coding	Benign
1	1342453	G	A	G1342453A	DVL1	NM_001330311.2(DVL1):c.272C>T:p.Ala91Val	coding	Benign
1	1437393	C	T	C1437393T	VWA1	NM_022834.5(VWA1):c.540C>T:p.Ala180=	coding	Benign
1	1439382	G	A	G1439382A	VWA1	NM_022834.5(VWA1):c.933G>A:p.Ser311=	coding	Benign
1	1439682	C	G	C1439682G	VWA1	NM_022834.5(VWA1):c.1233C>G:p.Arg411=	coding	Benign
1	1477279	G	T	G1477279T	ATAD3B	NM_031921.6(ATAD3B):c.211G>T:p.Ala71Ser	coding	Benign
1	1522857	G	A	G1522857A	ATAD3A	NM_001170535.3(ATAD3A):c.864G>A:p.Thr288=	coding	Benign
1	1523535	C	T	C1523535T	ATAD3A	NM_001170535.3(ATAD3A):c.931C>T:p.Pro311Ser	coding	Benign
1	1523564	C	T	C1523564T	ATAD3A	NM_001170535.3(ATAD3A):c.960C>T:p.Leu320=	coding	Benign
1	1523972	C	T	C1523972T	ATAD3A	NM_001170535.3(ATAD3A):c.1089+8C>T	noncoding	Benign
1	1524302	C	T	C1524302T	ATAD3A	NM_001170535.3(ATAD3A):c.1119C>T:p.Tyr373=	coding	Benign
1	1525234	T	C	T1525234C	ATAD3A	NM_001170535.3(ATAD3A):c.1215-6T>C	noncoding	Benign
1	1525242	T	G	T1525242G	ATAD3A	NM_001170535.3(ATAD3A):c.1217T>G:p.Leu406Arg	coding	Pathogenic
1	1526453	C	G	C1526453G	ATAD3A	NM_001170535.3(ATAD3A):c.1267-8C>G	noncoding	Benign
1	1527777	G	C	G1527777C	ATAD3A	NM_001170535.3(ATAD3A):c.1420G>C:p.Asp474His	coding	Benign
1	1529299	C	T	C1529299T	ATAD3A	NM_001170535.3(ATAD3A):c.1582C>T:p.Arg528Trp	coding	Pathogenic/Likely_pathogenic
1	1534060	C	T	C1534060T	ATAD3A	NM_001170535.3(ATAD3A):c.1749C>T:p.Pro583=	coding	Benign
1	1535370	G	A	G1535370A	TMEM240	NM_001114748.2(TMEM240):c.511C>T:p.Arg171Trp	coding	Pathogenic
1	1535372	G	A	G1535372A	TMEM240	NM_001114748.2(TMEM240):c.509C>T:p.Pro170Leu	coding	Pathogenic/Likely_pathogenic
1	1535389	G	A	G1535389A	TMEM240	NM_001114748.2(TMEM240):c.492C>T:p.His164=	coding	Benign
1	1535392	G	C	G1535392C	TMEM240	NM_001114748.2(TMEM240):c.489C>G:p.Tyr163Ter	coding	Pathogenic
1	1535428	G	A	G1535428A	TMEM240	NM_001114748.2(TMEM240):c.453C>T:p.Ala151=	coding	Benign
1	1535616	G	A	G1535616A	TMEM240	NM_001114748.2(TMEM240):c.346C>T:p.Arg116Cys	coding	Pathogenic
1	1535619	C	T	C1535619T	TMEM240	NM_001114748.2(TMEM240):c.343G>A:p.Val115Met	coding	Benign
1	1535722	C	T	C1535722T	TMEM240	NM_001114748.2(TMEM240):c.240G>A:p.Thr80=	coding	Benign
1	1535723	G	A	G1535723A	TMEM240	NM_001114748.2(TMEM240):c.239C>T:p.Thr80Met	coding	Pathogenic
1	1535746	G	A	G1535746A	TMEM240	NM_001114748.2(TMEM240):c.216C>T:p.Asp72=	coding	Benign
1	1535755	C	T	C1535755T	TMEM240	NM_001114748.2(TMEM240):c.207G>A:p.Ser69=	coding	Benign
1	1616568	C	G	C1616568G	MIB2	NM_001170689.2(MIB2):c.-69C>G	coding	Benign
1	1623829	G	T	G1623829T	MIB2	NM_080875.3(MIB2):c.477G>T:p.Gly159=	coding	Benign
1	1624846	C	T	C1624846T	MIB2	NM_080875.3(MIB2):c.645C>T:p.Ile215=	coding	Benign
1	1625341	C	T	C1625341T	MIB2	NM_080875.3(MIB2):c.951C>T:p.His317=	coding	Benign
1	1625413	C	T	C1625413T	MIB2	NM_080875.3(MIB2):c.1023C>T:p.Asn341=	coding	Benign
1	1626711	G	A	G1626711A	MIB2	NM_080875.3(MIB2):c.1208G>A:p.Arg403Gln	coding	Benign
1	1627168	A	G	A1627168G	MIB2	NM_080875.3(MIB2):c.1509A>G:p.Ala503=	coding	Benign
1	1627406	C	T	C1627406T	MIB2	NM_080875.3(MIB2):c.1659C>T:p.Asp553=	coding	Benign
1	1629234	C	T	C1629234T	MIB2	NM_080875.3(MIB2):c.2478C>T:p.His826=	coding	Benign
1	1757140	C	A	C1757140A	NADK	NM_023018.5(NADK):c.393+41G>T	coding	Benign
1	1759182	G	A	G1759182A	NADK	NM_023018.5(NADK):c.264-1872C>T	coding	Benign
1	1759828	G	A	G1759828A	NADK	NM_023018.5(NADK):c.263+2124C>T	coding	Benign
1	1787378	C	T	C1787378T	GNB1	NM_002074.5(GNB1):c.976G>A:p.Ala326Thr	coding	Pathogenic/Likely_pathogenic
1	1789231	G	A	G1789231A	GNB1	NM_002074.5(GNB1):c.738C>T:p.Asp246=	coding	Benign
1	1790454	G	A	G1790454A	GNB1	NM_002074.5(GNB1):c.640C>T:p.Arg214Ter	coding	Pathogenic
1	1793247	C	T	C1793247T	GNB1	NM_002074.5(GNB1):c.495G>A:p.Thr165=	coding	Benign
1	1793280	G	A	G1793280A	GNB1	NM_002074.5(GNB1):c.462C>T:p.Asp154=	coding	Benign
1	1804496	T	C	T1804496C	GNB1	NM_002074.5(GNB1):c.353A>G:p.Asp118Gly	coding	Pathogenic
1	1804506	C	T	C1804506T	GNB1	NM_002074.5(GNB1):c.343G>A:p.Gly115Ser	coding	Pathogenic
1	1804548	T	C	T1804548C	GNB1	NM_002074.5(GNB1):c.301A>G:p.Met101Val	coding	Pathogenic/Likely_pathogenic
1	1804575	C	T	C1804575T	GNB1	NM_002074.5(GNB1):c.274G>A:p.Ala92Thr	coding	Pathogenic
1	1806503	A	C	A1806503C	GNB1	NM_002074.5(GNB1):c.239T>G:p.Ile80Ser	coding	Pathogenic
1	1806503	A	G	A1806503G	GNB1	NM_002074.5(GNB1):c.239T>C:p.Ile80Thr	coding	Pathogenic/Likely_pathogenic
1	1806503	A	T	A1806503T	GNB1	NM_002074.5(GNB1):c.239T>A:p.Ile80Asn	coding	Pathogenic/Likely_pathogenic
1	1806509	T	C	T1806509C	GNB1	NM_002074.5(GNB1):c.233A>G:p.Lys78Arg	coding	Pathogenic/Likely_pathogenic
1	1806512	C	G	C1806512G	GNB1	NM_002074.5(GNB1):c.230G>C:p.Gly77Ala	coding	Pathogenic/Likely_pathogenic
1	1806514	A	C	A1806514C	GNB1	NM_002074.5(GNB1):c.228T>G:p.Asp76Glu	coding	Pathogenic/Likely_pathogenic
1	1806515	T	C	T1806515C	GNB1	NM_002074.5(GNB1):c.227A>G:p.Asp76Gly	coding	Pathogenic/Likely_pathogenic
1	1815818	C	T	C1815818T	GNB1	NM_002074.5(GNB1):c.141G>A:p.Thr47=	coding	Benign
1	1916569	C	T	C1916569T	CALML6	NM_138705.4(CALML6):c.207C>T:p.Pro69=	coding	Benign
1	1916758	G	C	G1916758C	CALML6	NM_138705.4(CALML6):c.260G>C:p.Gly87Ala	coding	Benign
1	1916786	A	G	A1916786G	CALML6	NM_138705.4(CALML6):c.288A>G:p.Ala96=	coding	Benign
1	1974126	C	T	C1974126T	CFAP74	NM_001304360.2(CFAP74):c.573G>A:p.Val191=	coding	Benign
1	2024923	G	A	G2024923A	GABRD	NM_000815.5(GABRD):c.69-19G>A	noncoding	Benign
1	2024960	C	T	C2024960T	GABRD	NM_000815.5(GABRD):c.87C>T:p.Gly29=	coding	Benign
1	2025532	G	A	G2025532A	GABRD	NM_000815.5(GABRD):c.264G>A:p.Thr88=	coding	Benign
1	2025598	T	C	T2025598C	GABRD	NM_000815.5(GABRD):c.330T>C:p.Gly110=	coding	Benign
1	2025673	C	T	C2025673T	GABRD	NM_000815.5(GABRD):c.405C>T:p.His135=	coding	Benign
1	2025682	G	A	G2025682A	GABRD	NM_000815.5(GABRD):c.414G>A:p.Thr138=	coding	Benign
1	2028156	C	T	C2028156T	GABRD	NM_000815.5(GABRD):c.555C>T:p.Tyr185=	coding	Benign
1	2028260	G	A	G2028260A	GABRD	NM_000815.5(GABRD):c.659G>A:p.Arg220His	coding	Benign/Likely_benign
1	2029196	C	T	C2029196T	GABRD	NM_000815.5(GABRD):c.777C>T:p.Val259=	coding	Benign
1	2029235	C	T	C2029235T	GABRD	NM_000815.5(GABRD):c.816C>T:p.Ser272=	coding	Benign
1	2029250	C	T	C2029250T	GABRD	NM_000815.5(GABRD):c.831C>T:p.Pro277=	coding	Benign
1	2029675	C	G	C2029675G	GABRD	NM_000815.5(GABRD):c.972C>G:p.Ala324=	coding	Benign
1	2029705	C	T	C2029705T	GABRD	NM_000815.5(GABRD):c.1002C>T:p.Asn334=	coding	Benign
1	2029969	C	T	C2029969T	GABRD	NM_000815.5(GABRD):c.1060-14C>T	noncoding	Benign
1	2030027	C	T	C2030027T	GABRD	NM_000815.5(GABRD):c.1104C>T:p.Ala368=	coding	Benign
1	2030030	C	A	C2030030A	GABRD	NM_000815.5(GABRD):c.1107C>A:p.Gly369=	coding	Benign
1	2030125	C	T	C2030125T	GABRD	NM_000815.5(GABRD):c.1202C>T:p.Thr401Met	coding	Benign
1	2055515	G	A	G2055515A	PRKCZ	NM_002744.6(PRKCZ):c.146G>A:p.Arg49His	coding	Benign
1	2150781	C	T	C2150781T	PRKCZ	NM_002744.6(PRKCZ):c.688-9C>T	noncoding	Benign
1	2172067	C	G	C2172067G	PRKCZ	NM_002744.6(PRKCZ):c.1074C>G:p.Ala358=	coding	Benign
1	2184994	C	T	C2184994T	PRKCZ	NM_002744.6(PRKCZ):c.1764C>T:p.Thr588=	coding	Benign
1	2228828	T	G	T2228828G	SKI	NM_003036.4(SKI):c.62T>G:p.Leu21Arg	coding	Pathogenic
1	2228857	T	C	T2228857C	SKI	NM_003036.4(SKI):c.91T>C:p.Ser31Pro	coding	Pathogenic
1	2228860	C	G	C2228860G	SKI	NM_003036.4(SKI):c.94C>G:p.Leu32Val	coding	Pathogenic
1	2228865	C	G	C2228865G	SKI	NM_003036.4(SKI):c.99C>G:p.Gly33=	coding	Benign
1	2228866	G	A	G2228866A	SKI	NM_003036.4(SKI):c.100G>A:p.Gly34Ser	coding	Pathogenic/Likely_pathogenic
1	2228866	G	T	G2228866T	SKI	NM_003036.4(SKI):c.100G>T:p.Gly34Cys	coding	Pathogenic
1	2228867	G	A	G2228867A	SKI	NM_003036.4(SKI):c.101G>A:p.Gly34Asp	coding	Pathogenic
1	2228867	G	T	G2228867T	SKI	NM_003036.4(SKI):c.101G>T:p.Gly34Val	coding	Pathogenic
1	2228904	C	T	C2228904T	SKI	NM_003036.4(SKI):c.138C>T:p.Ala46=	coding	Benign
1	2228951	C	G	C2228951G	SKI	NM_003036.4(SKI):c.185C>G:p.Ala62Gly	coding	Benign
1	2229060	C	T	C2229060T	SKI	NM_003036.4(SKI):c.294C>T:p.Thr98=	coding	Benign
1	2229113	G	A	G2229113A	SKI	NM_003036.4(SKI):c.347G>A:p.Gly116Glu	coding	Pathogenic/Likely_pathogenic
1	2229115	G	C	G2229115C	SKI	NM_003036.4(SKI):c.349G>C:p.Gly117Arg	coding	Pathogenic/Likely_pathogenic
1	2229126	C	T	C2229126T	SKI	NM_003036.4(SKI):c.360C>T:p.Arg120=	coding	Benign/Likely_benign
1	2229183	C	T	C2229183T	SKI	NM_003036.4(SKI):c.417C>T:p.Ile139=	coding	Benign/Likely_benign
1	2229222	C	T	C2229222T	SKI	NM_003036.4(SKI):c.456C>T:p.Arg152=	coding	Benign
1	2229237	G	A	G2229237A	SKI	NM_003036.4(SKI):c.471G>A:p.Gln157=	coding	Benign/Likely_benign
1	2229282	C	T	C2229282T	SKI	NM_003036.4(SKI):c.516C>T:p.Pro172=	coding	Benign/Likely_benign
1	2229565	C	T	C2229565T	SKI	NM_003036.4(SKI):c.799C>T:p.Leu267=	coding	Benign/Likely_benign
1	2229663	C	T	C2229663T	SKI	NM_003036.4(SKI):c.897C>T:p.Arg299=	coding	Benign/Likely_benign
1	2229714	G	A	G2229714A	SKI	NM_003036.4(SKI):c.948G>A:p.Lys316=	coding	Benign/Likely_benign
1	2230051	C	T	C2230051T	SKI	NM_003036.4(SKI):c.969+316C>T	noncoding	Benign
1	2302812	A	G	A2302812G	SKI	NM_003036.4(SKI):c.970-166A>G	noncoding	Benign
1	2303352	C	T	C2303352T	SKI	NM_003036.4(SKI):c.1163C>T:p.Ala388Val	coding	Benign/Likely_benign
1	2303410	C	T	C2303410T	SKI	NM_003036.4(SKI):c.1211+10C>T	noncoding	Benign/Likely_benign
1	2303411	G	A	G2303411A	SKI	NM_003036.4(SKI):c.1211+11G>A	noncoding	Benign
1	2303419	C	T	C2303419T	SKI	NM_003036.4(SKI):c.1211+19C>T	noncoding	Benign/Likely_benign
1	2303464	C	T	C2303464T	SKI	NM_003036.4(SKI):c.1211+64C>T	noncoding	Benign
1	2303882	C	T	C2303882T	SKI	NM_003036.4(SKI):c.1254C>T:p.Asn418=	coding	Benign/Likely_benign
1	2303936	C	T	C2303936T	SKI	NM_003036.4(SKI):c.1308C>T:p.Ala436=	coding	Benign
1	2303939	C	G	C2303939G	SKI	NM_003036.4(SKI):c.1311C>G:p.Ala437=	coding	Benign/Likely_benign
1	2303939	C	T	C2303939T	SKI	NM_003036.4(SKI):c.1311C>T:p.Ala437=	coding	Benign
1	2303966	C	T	C2303966T	SKI	NM_003036.4(SKI):c.1338C>T:p.Leu446=	coding	Benign/Likely_benign
1	2304038	C	T	C2304038T	SKI	NM_003036.4(SKI):c.1410C>T:p.Pro470=	coding	Benign
1	2304068	G	A	G2304068A	SKI	NM_003036.4(SKI):c.1440G>A:p.Ser480=	coding	Benign/Likely_benign
1	2304074	G	A	G2304074A	SKI	NM_003036.4(SKI):c.1446G>A:p.Ala482=	coding	Benign
1	2304223	G	A	G2304223A	SKI	NM_003036.4(SKI):c.1475-70G>A	noncoding	Benign
1	2304233	C	T	C2304233T	SKI	NM_003036.4(SKI):c.1475-60C>T	noncoding	Benign
1	2304345	C	T	C2304345T	SKI	NM_003036.4(SKI):c.1527C>T:p.Ser509=	coding	Benign/Likely_benign
1	2304411	T	C	T2304411C	SKI	NM_003036.4(SKI):c.1593T>C:p.Pro531=	coding	Benign/Likely_benign
1	2304450	C	T	C2304450T	SKI	NM_003036.4(SKI):c.1632C>T:p.His544=	coding	Benign/Likely_benign
1	2304552	C	T	C2304552T	SKI	NM_003036.4(SKI):c.1734C>T:p.Ser578=	coding	Benign/Likely_benign
1	2304594	G	C	G2304594C	SKI	NM_003036.4(SKI):c.1767+9G>C	noncoding	Benign
1	2305713	T	G	T2305713G	SKI	NM_003036.4(SKI):c.1768-307T>G	noncoding	Benign
1	2306086	C	T	C2306086T	SKI	NM_003036.4(SKI):c.1834C>T:p.Leu612=	coding	Benign/Likely_benign
1	2306103	G	A	G2306103A	SKI	NM_003036.4(SKI):c.1851G>A:p.Glu617=	coding	Benign/Likely_benign
1	2306226	C	T	C2306226T	SKI	NM_003036.4(SKI):c.1974C>T:p.Arg658=	coding	Benign
1	2306585	C	G	C2306585G	SKI	NM_003036.4(SKI):c.2007C>G:p.Asp669Glu	coding	Benign/Likely_benign
1	2306762	G	C	G2306762C	SKI	NM_003036.4(SKI):c.2184G>C:p.Pro728=	coding	Benign/Likely_benign
1	2385050	G	A	G2385050A	MORN1	NM_024848.3(MORN1):c.465C>T:p.Tyr155=	coding	Benign
1	2387432	G	A	G2387432A	MORN1	NM_024848.3(MORN1):c.345C>T:p.His115=	coding	Benign
1	2405414	C	T	C2405414T	PEX10	NM_007033.5(RER1):c.*2290C>T	noncoding	Benign
1	2405593	C	T	C2405593T	PEX10	NM_153818.1(PEX10):c.*173G>A	noncoding	Benign
1	2405755	C	T	C2405755T	PEX10	NM_153818.1(PEX10):c.*11G>A	noncoding	Benign
1	2405838	C	T	C2405838T	PEX10	NM_153818.1(PEX10):c.973-4G>A	noncoding	Benign
1	2406526	G	C	G2406526C	PEX10	NM_002617.3(PEX10):c.870C>G:p.His290Gln	coding	Pathogenic
1	2406532	G	A	G2406532A	PEX10	NM_002617.4(PEX10):c.864C>T:p.Cys288=	coding	Benign
1	2406553	C	T	C2406553T	PEX10	NM_153818.1(PEX10):c.903G>A:p.Arg301=	coding	Benign
1	2406561	C	A	C2406561A	PEX10	NM_002617.3(PEX10):c.835G>T:p.Glu279Ter	coding	Pathogenic
1	2406576	T	C	T2406576C	PEX10	NM_153818.1(PEX10):c.880A>G:p.Thr294Ala	coding	Benign/Likely_benign
1	2406719	C	G	C2406719G	PEX10	NM_153818.1(PEX10):c.836+1G>C	noncoding	Pathogenic
1	2406766	G	A	G2406766A	PEX10	NM_153818.1(PEX10):c.790C>T:p.Arg264Ter	coding	Pathogenic
1	2406811	C	G	C2406811G	PEX10	NM_153818.1(PEX10):c.745G>C:p.Val249Leu	coding	Benign/Likely_benign
1	2406875	G	C	G2406875C	PEX10	NM_002617.4(PEX10):c.621C>G:p.Pro207=	coding	Benign/Likely_benign
1	2406898	G	A	G2406898A	PEX10	NM_002617.4(PEX10):c.601-3C>T	coding	Pathogenic
1	2408451	C	T	C2408451T	PEX10	NM_153818.1(PEX10):c.600+1G>A	noncoding	Pathogenic
1	2408557	G	A	G2408557A	PEX10	NM_153818.1(PEX10):c.495C>T:p.Phe165=	coding	Benign/Likely_benign
1	2408617	C	T	C2408617T	PEX10	NM_153818.1(PEX10):c.435G>A:p.Met145Ile	coding	Benign
1	2408679	G	A	G2408679A	PEX10	NM_153818.1(PEX10):c.373C>T:p.Arg125Ter	coding	Pathogenic/Likely_pathogenic
1	2408720	A	G	A2408720G	PEX10	NM_153818.1(PEX10):c.332T>C:p.Leu111Pro	coding	Benign
1	2408734	C	T	C2408734T	PEX10	NM_153818.1(PEX10):c.318G>A:p.Leu106=	coding	Benign/Likely_benign
1	2408761	T	C	T2408761C	PEX10	NM_153818.1(PEX10):c.291A>G:p.Thr97=	coding	Benign
1	2408773	G	A	G2408773A	PEX10	NM_153818.1(PEX10):c.279C>T:p.Gly93=	coding	Benign
1	2412476	C	T	C2412476T	PEX10	NM_002617.4(PEX10):c.27G>A:p.Pro9=	coding	Benign/Likely_benign
1	2412497	G	C	G2412497C	PEX10	NM_153818.1(PEX10):c.6C>G:p.Ala2=	coding	Benign/Likely_benign
1	2412501	A	G	A2412501G	PEX10	NM_153818.1(PEX10):c.2T>C:p.Met1Thr	coding	Pathogenic
1	2412502	T	C	T2412502C	PEX10	NM_153818.1(PEX10):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
1	2476606	C	T	C2476606T	PLCH2	NM_014638.4(PLCH2):c.18C>T:p.Pro6=	coding	Benign
1	2476671	G	C	G2476671C	PLCH2	NM_014638.4(PLCH2):c.83G>C:p.Gly28Ala	coding	Benign
1	2479840	C	T	C2479840T	PLCH2	NM_014638.4(PLCH2):c.378C>T:p.His126=	coding	Benign
1	2479937	G	A	G2479937A	PLCH2	NM_014638.4(PLCH2):c.475G>A:p.Asp159Asn	coding	Benign
1	2480243	C	T	C2480243T	PLCH2	NM_014638.4(PLCH2):c.576C>T:p.Gly192=	coding	Benign
1	2484444	G	C	G2484444C	PLCH2	NM_014638.4(PLCH2):c.646-4G>C	noncoding	Benign
1	2487163	C	T	C2487163T	PLCH2	NM_014638.4(PLCH2):c.911-10C>T	noncoding	Benign
1	2489228	C	T	C2489228T	PLCH2	NM_014638.4(PLCH2):c.1257C>T:p.Ile419=	coding	Benign
1	2489840	C	T	C2489840T	PLCH2	NM_014638.4(PLCH2):c.1488C>T:p.Asp496=	coding	Benign
1	2498812	C	T	C2498812T	PLCH2	NM_014638.4(PLCH2):c.2418C>T:p.Arg806=	coding	Benign
1	2499660	A	G	A2499660G	PLCH2	NM_014638.4(PLCH2):c.2601A>G:p.Leu867=	coding	Benign
1	2499663	A	G	A2499663G	PLCH2	NM_014638.4(PLCH2):c.2604A>G:p.Glu868=	coding	Benign
1	2504320	G	A	G2504320A	PLCH2	NM_014638.4(PLCH2):c.3358G>A:p.Val1120Met	coding	Benign
1	2504832	G	A	G2504832A	PLCH2	NM_014638.4(PLCH2):c.3870G>A:p.Ser1290=	coding	Benign
1	2530132	G	A	G2530132A	HES5	NM_001010926.4(HES5):c.33C>T:p.Leu11=	coding	Benign
1	2556673	T	C	T2556673C	TNFRSF14	NM_003820.3(TNFRSF14):c.9T>C:p.Pro3=	coding	Benign
1	2591922	C	T	C2591922T	MMEL1	NM_033467.4(MMEL1):c.2163+10G>A	noncoding	Benign
1	2591973	C	T	C2591973T	MMEL1	NM_033467.4(MMEL1):c.2122G>A:p.Asp708Asn	coding	Benign
1	2592725	G	A	G2592725A	MMEL1	NM_033467.4(MMEL1):c.2002-5C>T	noncoding	Benign
1	2593833	C	T	C2593833T	MMEL1	NM_033467.4(MMEL1):c.1848G>A:p.Thr616=	coding	Benign
1	2596018	C	T	C2596018T	MMEL1	NM_033467.4(MMEL1):c.1491G>A:p.Ala497=	coding	Benign
1	2596033	C	T	C2596033T	MMEL1	NM_033467.4(MMEL1):c.1476G>A:p.Glu492=	coding	Benign
1	2604193	T	C	T2604193C	MMEL1	NM_033467.4(MMEL1):c.905A>G:p.Gln302Arg	coding	Benign
1	2605602	T	G	T2605602G	MMEL1	NM_033467.4(MMEL1):c.772A>C:p.Met258Leu	coding	Benign
1	2606362	G	A	G2606362A	MMEL1	NM_033467.4(MMEL1):c.636C>T:p.Leu212=	coding	Benign
1	3068848	G	A	G3068848A	PRDM16	NC_000001.11:g.3068848G>A	noncoding	Benign
1	3069321	C	G	C3069321G	PRDM16	NM_022114.4(PRDM16):c.37+25C>G	noncoding	Benign
1	3186110	C	T	C3186110T	PRDM16	NM_022114.4(PRDM16):c.38-15C>T	noncoding	Benign
1	3186187	G	A	G3186187A	PRDM16	NM_022114.4(PRDM16):c.100G>A:p.Ala34Thr	coding	Benign/Likely_benign
1	3186189	G	A	G3186189A	PRDM16	NM_022114.4(PRDM16):c.102G>A:p.Ala34=	coding	Benign/Likely_benign
1	3186288	G	A	G3186288A	PRDM16	NM_022114.4(PRDM16):c.201G>A:p.Pro67=	coding	Benign/Likely_benign
1	3186480	C	T	C3186480T	PRDM16	NM_022114.4(PRDM16):c.387+6C>T	noncoding	Benign
1	3186641	G	T	G3186641T	PRDM16	NM_022114.4(PRDM16):c.387+167G>T	noncoding	Benign
1	3186748	G	T	G3186748T	PRDM16	NM_022114.4(PRDM16):c.387+274G>T	noncoding	Benign
1	3244128	C	T	C3244128T	PRDM16	NM_022114.4(PRDM16):c.429C>T:p.Cys143=	coding	Benign/Likely_benign
1	3244445	C	G	C3244445G	PRDM16	NM_022114.4(PRDM16):c.438+308C>G	noncoding	Benign
1	3385157	C	T	C3385157T	PRDM16	NM_022114.4(PRDM16):c.444C>T:p.Ser148=	coding	Benign
1	3396350	T	G	T3396350G	PRDM16	NM_022114.4(PRDM16):c.574-141T>G	noncoding	Benign
1	3396399	C	T	C3396399T	PRDM16	NM_022114.4(PRDM16):c.574-92C>T	noncoding	Benign
1	3396544	C	T	C3396544T	PRDM16	NM_022114.4(PRDM16):c.627C>T:p.His209=	coding	Benign
1	3396718	G	A	G3396718A	PRDM16	NM_022114.4(PRDM16):c.676+125G>A	noncoding	Benign
1	3402497	A	G	A3402497G	PRDM16	NM_022114.4(PRDM16):c.677-294A>G	noncoding	Benign
1	3402680	G	A	G3402680A	PRDM16	NM_022114.4(PRDM16):c.677-111G>A	noncoding	Benign
1	3402775	G	A	G3402775A	PRDM16	NM_022114.4(PRDM16):c.677-16G>A	noncoding	Benign
1	3402897	C	T	C3402897T	PRDM16	NM_022114.4(PRDM16):c.783C>T:p.Tyr261=	coding	Benign
1	3403007	C	A	C3403007A	PRDM16	NM_022114.4(PRDM16):c.884+9C>A	noncoding	Benign/Likely_benign
1	3403110	C	T	C3403110T	PRDM16	NM_022114.4(PRDM16):c.884+112C>T	noncoding	Benign
1	3403117	C	G	C3403117G	PRDM16	NM_022114.4(PRDM16):c.884+119C>G	noncoding	Benign
1	3403213	G	A	G3403213A	PRDM16	NM_022114.4(PRDM16):c.884+215G>A	noncoding	Benign
1	3404570	G	A	G3404570A	PRDM16	NM_022114.4(PRDM16):c.885-169G>A	noncoding	Benign
1	3404603	C	A	C3404603A	PRDM16	NM_022114.4(PRDM16):c.885-136C>A	noncoding	Benign
1	3404630	C	T	C3404630T	PRDM16	NM_022114.4(PRDM16):c.885-109C>T	noncoding	Benign
1	3405151	G	C	G3405151C	PRDM16	NM_022114.4(PRDM16):c.1032+265G>C	noncoding	Benign
1	3405419	G	A	G3405419A	PRDM16	NM_022114.4(PRDM16):c.1033-76G>A	noncoding	Benign
1	3405509	C	T	C3405509T	PRDM16	NM_022114.4(PRDM16):c.1047C>T:p.Pro349=	coding	Benign
1	3405533	C	T	C3405533T	PRDM16	NM_022114.4(PRDM16):c.1071C>T:p.Arg357=	coding	Benign
1	3405575	C	T	C3405575T	PRDM16	NM_022114.4(PRDM16):c.1113C>T:p.Cys371=	coding	Benign
1	3405596	C	G	C3405596G	PRDM16	NM_022114.4(PRDM16):c.1134C>G:p.Ser378=	coding	Benign/Likely_benign
1	3405819	G	A	G3405819A	PRDM16	NM_022114.4(PRDM16):c.1186+171G>A	noncoding	Benign
1	3405866	G	A	G3405866A	PRDM16	NM_022114.4(PRDM16):c.1186+218G>A	noncoding	Benign
1	3411241	C	T	C3411241T	PRDM16	NM_022114.4(PRDM16):c.1187-143C>T	noncoding	Benign
1	3411307	T	C	T3411307C	PRDM16	NM_022114.4(PRDM16):c.1187-77T>C	noncoding	Benign
1	3411385	T	C	T3411385C	PRDM16	NM_022114.4(PRDM16):c.1188T>C:p.Cys396=	coding	Benign
1	3411409	G	A	G3411409A	PRDM16	NM_022114.4(PRDM16):c.1212G>A:p.Thr404=	coding	Benign
1	3411623	C	T	C3411623T	PRDM16	NM_022114.4(PRDM16):c.1426C>T:p.Pro476Ser	coding	Benign/Likely_benign
1	3411715	G	A	G3411715A	PRDM16	NM_022114.4(PRDM16):c.1518G>A:p.Thr506=	coding	Benign
1	3411763	G	T	G3411763T	PRDM16	NM_022114.4(PRDM16):c.1566G>T:p.Leu522Phe	coding	Benign
1	3411794	T	C	T3411794C	PRDM16	NM_022114.4(PRDM16):c.1597T>C:p.Ser533Pro	coding	Benign
1	3411796	G	A	G3411796A	PRDM16	NM_022114.4(PRDM16):c.1599G>A:p.Ser533=	coding	Benign/Likely_benign
1	3411881	G	A	G3411881A	PRDM16	NM_022114.4(PRDM16):c.1684G>A:p.Val562Ile	coding	Benign/Likely_benign
1	3411906	C	T	C3411906T	PRDM16	NM_022114.4(PRDM16):c.1709C>T:p.Thr570Met	coding	Benign/Likely_benign
1	3411994	G	A	G3411994A	PRDM16	NM_022114.4(PRDM16):c.1797G>A:p.Ser599=	coding	Benign/Likely_benign
1	3412095	C	T	C3412095T	PRDM16	NM_022114.4(PRDM16):c.1898C>T:p.Pro633Leu	coding	Benign
1	3412255	G	A	G3412255A	PRDM16	NM_022114.4(PRDM16):c.2058G>A:p.Thr686=	coding	Benign/Likely_benign
1	3412288	A	T	A3412288T	PRDM16	NM_022114.4(PRDM16):c.2091A>T:p.Ala697=	coding	Benign
1	3412301	A	T	A3412301T	PRDM16	NM_022114.4(PRDM16):c.2104A>T:p.Lys702Ter	coding	Pathogenic
1	3412327	G	A	G3412327A	PRDM16	NM_022114.4(PRDM16):c.2130G>A:p.Gly710=	coding	Benign/Likely_benign
1	3412487	G	A	G3412487A	PRDM16	NM_022114.4(PRDM16):c.2290G>A:p.Val764Met	coding	Benign/Likely_benign
1	3412576	G	A	G3412576A	PRDM16	NM_022114.4(PRDM16):c.2379G>A:p.Ser793=	coding	Benign
1	3412588	C	T	C3412588T	PRDM16	NM_022114.4(PRDM16):c.2391C>T:p.Ser797=	coding	Benign/Likely_benign
1	3412603	G	A	G3412603A	PRDM16	NM_022114.4(PRDM16):c.2406G>A:p.Pro802=	coding	Benign/Likely_benign
1	3412645	C	T	C3412645T	PRDM16	NM_022114.4(PRDM16):c.2448C>T:p.Asn816=	coding	Benign/Likely_benign
1	3412649	G	A	G3412649A	PRDM16	NM_022114.4(PRDM16):c.2452G>A:p.Gly818Ser	coding	Benign/Likely_benign
1	3412665	G	A	G3412665A	PRDM16	NM_022114.4(PRDM16):c.2468G>A:p.Arg823His	coding	Benign/Likely_benign
1	3412665	G	C	G3412665C	PRDM16	NM_022114.4(PRDM16):c.2468G>C:p.Arg823Pro	coding	Benign/Likely_benign
1	3412699	C	T	C3412699T	PRDM16	NM_022114.4(PRDM16):c.2502C>T:p.Gly834=	coding	Benign
1	3412703	G	A	G3412703A	PRDM16	NM_022114.4(PRDM16):c.2506G>A:p.Gly836Ser	coding	Benign/Likely_benign
1	3412736	A	T	A3412736T	PRDM16	NM_022114.4(PRDM16):c.2539A>T:p.Met847Leu	coding	Benign
1	3412820	C	T	C3412820T	PRDM16	NM_022114.4(PRDM16):c.2603+20C>T	noncoding	Benign
1	3413017	G	A	G3413017A	PRDM16	NM_022114.4(PRDM16):c.2603+217G>A	noncoding	Benign
1	3414320	G	A	G3414320A	PRDM16	NM_022114.4(PRDM16):c.2604-240G>A	noncoding	Benign
1	3414323	C	T	C3414323T	PRDM16	NM_022114.4(PRDM16):c.2604-237C>T	noncoding	Benign
1	3414432	G	A	G3414432A	PRDM16	NM_022114.4(PRDM16):c.2604-128G>A	noncoding	Benign
1	3414590	C	T	C3414590T	PRDM16	NM_022114.4(PRDM16):c.2634C>T:p.Pro878=	coding	Benign/Likely_benign
1	3414616	T	C	T3414616C	PRDM16	NM_022114.4(PRDM16):c.2660T>C:p.Leu887Pro	coding	Pathogenic
1	3414629	G	A	G3414629A	PRDM16	NM_022114.4(PRDM16):c.2673G>A:p.Pro891=	coding	Benign
1	3417818	A	G	A3417818G	PRDM16	NM_022114.4(PRDM16):c.2692-10A>G	noncoding	Benign/Likely_benign
1	3417929	C	T	C3417929T	PRDM16	NM_022114.4(PRDM16):c.2793C>T:p.Asn931=	coding	Benign
1	3418835	G	T	G3418835T	PRDM16	NM_022114.4(PRDM16):c.2939+91G>T	noncoding	Benign
1	3425564	G	A	G3425564A	PRDM16	NM_022114.4(PRDM16):c.2940-17G>A	noncoding	Benign
1	3425566	G	A	G3425566A	PRDM16	NM_022114.4(PRDM16):c.2940-15G>A	noncoding	Benign/Likely_benign
1	3425593	C	T	C3425593T	PRDM16	NM_022114.4(PRDM16):c.2952C>T:p.Cys984=	coding	Benign/Likely_benign
1	3425665	C	T	C3425665T	PRDM16	NM_022114.4(PRDM16):c.3024C>T:p.Phe1008=	coding	Benign
1	3425743	C	T	C3425743T	PRDM16	NM_022114.4(PRDM16):c.3102C>T:p.Asn1034=	coding	Benign/Likely_benign
1	3425800	C	T	C3425800T	PRDM16	NM_022114.4(PRDM16):c.3109+50C>T	noncoding	Benign
1	3425966	G	A	G3425966A	PRDM16	NM_022114.4(PRDM16):c.3110-85G>A	noncoding	Benign
1	3426071	C	T	C3426071T	PRDM16	NM_022114.4(PRDM16):c.3130C>T:p.Leu1044Phe	coding	Benign
1	3426240	G	T	G3426240T	PRDM16	NM_022114.4(PRDM16):c.3284+15G>T	noncoding	Benign
1	3426370	A	G	A3426370G	PRDM16	NM_022114.4(PRDM16):c.3284+145A>G	noncoding	Benign
1	3426404	G	A	G3426404A	PRDM16	NM_022114.4(PRDM16):c.3284+179G>A	noncoding	Benign
1	3430791	A	G	A3430791G	PRDM16	NM_022114.4(PRDM16):c.3285-81A>G	noncoding	Benign
1	3430888	G	A	G3430888A	PRDM16	NM_022114.4(PRDM16):c.3301G>A:p.Val1101Met	coding	Benign
1	3430956	C	T	C3430956T	PRDM16	NM_022114.4(PRDM16):c.3369C>T:p.Asp1123=	coding	Benign
1	3431704	G	C	G3431704C	PRDM16	NM_022114.4(PRDM16):c.3522-262G>C	noncoding	Benign
1	3432014	G	A	G3432014A	PRDM16	NM_022114.4(PRDM16):c.3570G>A:p.Pro1190=	coding	Benign
1	3432131	T	C	T3432131C	PRDM16	NM_022114.4(PRDM16):c.3687T>C:p.Ala1229=	coding	Benign/Likely_benign
1	3432266	G	A	G3432266A	PRDM16	NM_022114.4(PRDM16):c.3696+126G>A	noncoding	Benign
1	3433401	G	A	G3433401A	PRDM16	NM_022114.4(PRDM16):c.3697-276G>A	noncoding	Benign
1	3433531	T	C	T3433531C	PRDM16	NM_022114.4(PRDM16):c.3697-146T>C	noncoding	Benign
1	3433570	T	C	T3433570C	PRDM16	NM_022114.4(PRDM16):c.3697-107T>C	noncoding	Benign
1	3469525	G	A	G3469525A	ARHGEF16	NM_014448.4(ARHGEF16):c.954G>A:p.Ala318=	coding	Benign
1	3478438	T	C	T3478438C	ARHGEF16	NM_014448.4(ARHGEF16):c.1640T>C:p.Met547Thr	coding	Benign
1	3479599	G	A	G3479599A	ARHGEF16	NM_014448.4(ARHGEF16):c.1888+9G>A	noncoding	Benign
1	3490548	C	T	C3490548T	MEGF6	NM_001409.4(MEGF6):c.4606G>A:p.Gly1536Ser	coding	Benign
1	3495901	C	T	C3495901T	MEGF6	NM_001409.4(MEGF6):c.3860G>A:p.Arg1287His	coding	Benign
1	3495957	C	T	C3495957T	MEGF6	NM_001409.4(MEGF6):c.3804G>A:p.Ala1268=	coding	Benign
1	3498793	C	T	C3498793T	MEGF6	NM_001409.4(MEGF6):c.3128G>A:p.Arg1043Gln	coding	Benign
1	3499609	G	A	G3499609A	MEGF6	NM_001409.4(MEGF6):c.2944C>T:p.Arg982Trp	coding	Benign
1	3499682	G	A	G3499682A	MEGF6	NM_001409.4(MEGF6):c.2871C>T:p.Arg957=	coding	Benign
1	3499824	G	A	G3499824A	MEGF6	NM_001409.4(MEGF6):c.2808C>T:p.Ala936=	coding	Benign
1	3500733	G	A	G3500733A	MEGF6	NM_001409.4(MEGF6):c.2607C>T:p.Cys869=	coding	Benign
1	3501198	C	T	C3501198T	MEGF6	NM_001409.4(MEGF6):c.2425G>A:p.Val809Ile	coding	Benign
1	3501835	G	A	G3501835A	MEGF6	NM_001409.4(MEGF6):c.2275C>T:p.Arg759Trp	coding	Benign
1	3501848	G	A	G3501848A	MEGF6	NM_001409.4(MEGF6):c.2262C>T:p.Val754=	coding	Benign
1	3505549	C	T	C3505549T	MEGF6	NM_001409.4(MEGF6):c.1926G>A:p.Pro642=	coding	Benign
1	3512132	G	T	G3512132T	MEGF6	NM_001409.4(MEGF6):c.854-4C>A	noncoding	Benign
1	3514574	C	A	C3514574A	MEGF6	NM_001409.4(MEGF6):c.829G>T:p.Ala277Ser	coding	Benign
1	3515461	C	T	C3515461T	MEGF6	NM_001409.4(MEGF6):c.671G>A:p.Arg224Gln	coding	Benign
1	3579853	G	A	G3579853A	MEGF6	NM_001409.4(MEGF6):c.453C>T:p.Pro151=	coding	Benign
1	3595444	G	T	G3595444T	MEGF6	NM_001409.4(MEGF6):c.270C>A:p.Thr90=	coding	Benign
1	3602598	G	A	G3602598A	MEGF6	NM_001409.4(MEGF6):c.134C>T:p.Pro45Leu	coding	Benign
1	3682439	G	A	G3682439A	TP73	NM_005427.4(TP73):c.65+9G>A	noncoding	Benign
1	3683187	G	A	G3683187A	TP73	NM_005427.4(TP73):c.186+7G>A	noncoding	Benign
1	3707770	G	A	G3707770A	TP73	NM_005427.4(TP73):c.408G>A:p.Thr136=	coding	Benign
1	3727117	G	A	G3727117A	TP73	NM_005427.4(TP73):c.735G>A:p.Val245=	coding	Benign
1	3727758	G	A	G3727758A	TP73	NM_005427.4(TP73):c.973G>A:p.Ala325Thr	coding	Benign
1	3729425	G	A	G3729425A	TP73	NM_005427.4(TP73):c.1173G>A:p.Gln391=	coding	Benign
1	3730057	C	T	C3730057T	TP73	NM_005427.4(TP73):c.1254C>T:p.His418=	coding	Benign
1	3732857	T	C	T3732857C	TP73	NM_005427.4(TP73):c.1689T>C:p.Ser563=	coding	Benign
1	3752792	G	A	G3752792A	CCDC27	NM_152492.3(CCDC27):c.311G>A:p.Arg104Lys	coding	Benign
1	3815444	G	A	G3815444A	CEP104	NM_014704.4(CEP104):c.2736C>T:p.Gly912=	coding	Benign
1	3816372	T	C	T3816372C	CEP104	NM_014704.4(CEP104):c.2572-2A>G	noncoding	Pathogenic
1	3823176	C	T	C3823176T	CEP104	NM_014704.4(CEP104):c.2569G>A:p.Glu857Lys	coding	Benign
1	3829293	T	C	T3829293C	CEP104	NM_014704.4(CEP104):c.2124A>G:p.Ala708=	coding	Benign
1	3829868	G	A	G3829868A	CEP104	NM_014704.4(CEP104):c.1966C>T:p.Arg656Cys	coding	Benign
1	3829920	T	C	T3829920C	CEP104	NM_014704.4(CEP104):c.1914A>G:p.Arg638=	coding	Benign
1	3829950	C	A	C3829950A	CEP104	NM_014704.4(CEP104):c.1884G>T:p.Thr628=	coding	Benign
1	3835024	T	C	T3835024C	CEP104	NM_014704.4(CEP104):c.1386A>G:p.Leu462=	coding	Benign
1	3835047	G	A	G3835047A	CEP104	NM_014704.4(CEP104):c.1363C>T:p.Leu455=	coding	Benign
1	3835070	G	A	G3835070A	CEP104	NM_014704.4(CEP104):c.1340C>T:p.Thr447Met	coding	Benign
1	3836504	T	A	T3836504A	CEP104	NM_014704.4(CEP104):c.1308A>T:p.Gly436=	coding	Benign
1	3836643	T	C	T3836643C	CEP104	NM_014704.4(CEP104):c.1169A>G:p.His390Arg	coding	Benign
1	3839096	A	C	A3839096C	CEP104	NM_014704.4(CEP104):c.759T>G:p.Tyr253Ter	coding	Pathogenic
1	3839606	A	G	A3839606G	CEP104	NM_014704.4(CEP104):c.735+2T>C	noncoding	Pathogenic
1	3839662	C	T	C3839662T	CEP104	NM_014704.4(CEP104):c.681G>A:p.Lys227=	coding	Benign
1	3839755	C	T	C3839755T	CEP104	NM_014704.4(CEP104):c.588G>A:p.Pro196=	coding	Benign
1	3844921	T	A	T3844921A	CEP104	NM_014704.4(CEP104):c.552A>T:p.Glu184Asp	coding	Benign
1	3844977	G	A	G3844977A	CEP104	NM_014704.4(CEP104):c.496C>T:p.Arg166Ter	coding	Pathogenic
1	3844983	C	A	C3844983A	CEP104	NM_014704.4(CEP104):c.490G>T:p.Ala164Ser	coding	Benign
1	3847485	A	G	A3847485G	CEP104	NM_014704.4(CEP104):c.416T>C:p.Ile139Thr	coding	Benign
1	3848718	C	T	C3848718T	CEP104	NM_014704.4(CEP104):c.177G>A:p.Leu59=	coding	Benign
1	4711974	C	T	C4711974T	AJAP1	NM_018836.4(AJAP1):c.104C>T:p.Ala35Val	coding	Benign
1	4712475	G	A	G4712475A	AJAP1	NM_018836.4(AJAP1):c.605G>A:p.Gly202Asp	coding	Benign
1	5862951	A	C	A5862951C	NPHP4	NM_015102.5(NPHP4):c.*314T>G	noncoding	Benign
1	5863137	T	G	T5863137G	NPHP4	NM_015102.5(NPHP4):c.*128A>C	noncoding	Benign
1	5863309	C	T	C5863309T	NPHP4	NM_015102.5(NPHP4):c.4237G>A:p.Asp1413Asn	coding	Benign/Likely_benign
1	5864440	G	A	G5864440A	NPHP4	NM_015102.5(NPHP4):c.3894C>T:p.Ala1298=	coding	Benign
1	5864458	G	A	G5864458A	NPHP4	NM_015102.5(NPHP4):c.3876C>T:p.Gly1292=	coding	Benign
1	5865141	C	T	C5865141T	NPHP4	NM_015102.5(NPHP4):c.3777G>A:p.Arg1259=	coding	Benign/Likely_benign
1	5865244	G	A	G5865244A	NPHP4	NM_015102.5(NPHP4):c.3674C>T:p.Thr1225Met	coding	Benign
1	5865311	G	A	G5865311A	NPHP4	NM_015102.5(NPHP4):c.3645-38C>T	noncoding	Benign
1	5866447	T	C	T5866447C	NPHP4	NM_015102.5(NPHP4):c.3570A>G:p.Glu1190=	coding	Benign
1	5867109	G	A	G5867109A	NPHP4	NM_015102.5(NPHP4):c.3479C>T:p.Pro1160Leu	coding	Benign
1	5867887	G	A	G5867887A	NPHP4	NM_015102.5(NPHP4):c.3325C>T:p.Arg1109Ter	coding	Pathogenic
1	5873324	C	G	C5873324G	NPHP4	NM_015102.5(NPHP4):c.3243G>C:p.Gly1081=	coding	Benign
1	5874430	A	G	A5874430G	NPHP4	NM_015102.5(NPHP4):c.3231+41T>C	noncoding	Benign
1	5874440	T	C	T5874440C	NPHP4	NM_015102.5(NPHP4):c.3231+31A>G	noncoding	Benign
1	5874558	G	C	G5874558C	NPHP4	NM_015102.5(NPHP4):c.3144C>G:p.Ala1048=	coding	Benign/Likely_benign
1	5874662	G	A	G5874662A	NPHP4	NM_015102.5(NPHP4):c.3045-5C>T	noncoding	Benign/Likely_benign
1	5874882	G	A	G5874882A	NPHP4	NM_015102.5(NPHP4):c.3036C>T:p.Pro1012=	coding	Benign/Likely_benign
1	5874946	A	G	A5874946G	NPHP4	NM_015102.5(NPHP4):c.2972T>C:p.Phe991Ser	coding	Pathogenic
1	5874988	G	A	G5874988A	NPHP4	NM_015102.5(NPHP4):c.2930C>T:p.Thr977Met	coding	Pathogenic
1	5875004	T	C	T5875004C	NPHP4	NM_015102.5(NPHP4):c.2914A>G:p.Ser972Gly	coding	Benign/Likely_benign
1	5875042	C	T	C5875042T	NPHP4	NM_015102.5(NPHP4):c.2876G>A:p.Arg959Gln	coding	Benign/Likely_benign
1	5875050	G	A	G5875050A	NPHP4	NM_015102.5(NPHP4):c.2868C>T:p.Ala956=	coding	Benign
1	5877098	C	T	C5877098T	NPHP4	NM_015102.5(NPHP4):c.2812G>A:p.Val938Met	coding	Benign
1	5877102	C	T	C5877102T	NPHP4	NM_015102.5(NPHP4):c.2808G>A:p.Thr936=	coding	Benign
1	5877108	G	A	G5877108A	NPHP4	NM_015102.5(NPHP4):c.2802C>T:p.Arg934=	coding	Benign
1	5877186	C	T	C5877186T	NPHP4	NM_015102.5(NPHP4):c.2724G>A:p.Ser908=	coding	Benign
1	5877194	G	A	G5877194A	NPHP4	NM_015102.5(NPHP4):c.2716C>T:p.Arg906Cys	coding	Benign/Likely_benign
1	5877229	T	C	T5877229C	NPHP4	NM_015102.5(NPHP4):c.2681A>G:p.His894Arg	coding	Benign/Likely_benign
1	5877267	C	T	C5877267T	NPHP4	NM_015102.5(NPHP4):c.2643G>A:p.Ala881=	coding	Benign
1	5877331	C	T	C5877331T	NPHP4	NM_015102.5(NPHP4):c.2612-33G>A	noncoding	Benign
1	5880113	C	T	C5880113T	NPHP4	NM_015102.5(NPHP4):c.2611+1G>A	noncoding	Pathogenic
1	5887248	G	A	G5887248A	NPHP4	NM_015102.5(NPHP4):c.2485+38C>T	noncoding	Benign
1	5887394	G	A	G5887394A	NPHP4	NM_015102.5(NPHP4):c.2377C>T:p.Gln793Ter	coding	Pathogenic
1	5887403	C	A	C5887403A	NPHP4	NM_015102.5(NPHP4):c.2368G>T:p.Glu790Ter	coding	Pathogenic
1	5887436	G	A	G5887436A	NPHP4	NM_015102.5(NPHP4):c.2335C>T:p.Gln779Ter	coding	Pathogenic
1	5890867	C	T	C5890867T	NPHP4	NM_015102.5(NPHP4):c.2304+1G>A	noncoding	Pathogenic
1	5890879	C	T	C5890879T	NPHP4	NM_015102.5(NPHP4):c.2293G>A:p.Val765Ile	coding	Benign/Likely_benign
1	5890915	C	T	C5890915T	NPHP4	NM_015102.5(NPHP4):c.2257G>A:p.Asp753Asn	coding	Benign/Likely_benign
1	5890953	C	T	C5890953T	NPHP4	NM_015102.5(NPHP4):c.2219G>A:p.Arg740His	coding	Benign
1	5904716	G	A	G5904716A	NPHP4	NM_015102.5(NPHP4):c.2044C>T:p.Arg682Ter	coding	Pathogenic/Likely_pathogenic
1	5904729	G	A	G5904729A	NPHP4	NM_015102.5(NPHP4):c.2031C>T:p.Pro677=	coding	Benign
1	5904749	G	A	G5904749A	NPHP4	NM_015102.5(NPHP4):c.2011C>T:p.Gln671Ter	coding	Pathogenic
1	5904788	G	A	G5904788A	NPHP4	NM_015102.5(NPHP4):c.1972C>T:p.Arg658Ter	coding	Pathogenic
1	5904794	C	T	C5904794T	NPHP4	NM_015102.5(NPHP4):c.1966G>A:p.Asp656Asn	coding	Benign
1	5905321	C	T	C5905321T	NPHP4	NM_015102.5(NPHP4):c.1926G>A:p.Glu642=	coding	Benign
1	5905395	C	T	C5905395T	NPHP4	NM_015102.5(NPHP4):c.1852G>A:p.Glu618Lys	coding	Benign
1	5905690	G	A	G5905690A	NPHP4	NM_015102.5(NPHP4):c.1705C>T:p.Gln569Ter	coding	Pathogenic
1	5905690	G	C	G5905690C	NPHP4	NM_015102.5(NPHP4):c.1705C>G:p.Gln569Glu	coding	Benign/Likely_benign
1	5905764	G	C	G5905764C	NPHP4	NM_015102.5(NPHP4):c.1631C>G:p.Ala544Gly	coding	Benign/Likely_benign
1	5905773	G	A	G5905773A	NPHP4	NM_015102.5(NPHP4):c.1622C>T:p.Pro541Leu	coding	Benign/Likely_benign
1	5907106	G	A	G5907106A	NPHP4	NM_015102.5(NPHP4):c.1611+9C>T	noncoding	Benign
1	5907184	C	T	C5907184T	NPHP4	NM_015102.5(NPHP4):c.1542G>A:p.Pro514=	coding	Benign
1	5909142	C	T	C5909142T	NPHP4	NM_015102.5(NPHP4):c.1503+10G>A	noncoding	Benign/Likely_benign
1	5909165	G	C	G5909165C	NPHP4	NM_015102.5(NPHP4):c.1490C>G:p.Pro497Arg	coding	Benign
1	5909185	G	A	G5909185A	NPHP4	NM_015102.5(NPHP4):c.1470C>T:p.Leu490=	coding	Benign
1	5909220	G	A	G5909220A	NPHP4	NM_015102.5(NPHP4):c.1442-7C>T	noncoding	Benign/Likely_benign
1	5927636	T	C	T5927636C	NPHP4	NM_015102.5(NPHP4):c.1441+13A>G	noncoding	Benign
1	5927733	C	A	C5927733A	NPHP4	NM_015102.5(NPHP4):c.1357G>T:p.Glu453Ter	coding	Pathogenic
1	5933221	G	A	G5933221A	NPHP4	NM_015102.5(NPHP4):c.1228C>T:p.Gln410Ter	coding	Pathogenic
1	5947134	C	A	C5947134A	NPHP4	NM_015102.5(NPHP4):c.1089G>T:p.Val363=	coding	Benign
1	5948118	G	A	G5948118A	NPHP4	NM_015102.5(NPHP4):c.944C>T:p.Thr315Met	coding	Benign/Likely_benign
1	5967299	G	A	G5967299A	NPHP4	NM_015102.5(NPHP4):c.517C>T:p.Gln173Ter	coding	Pathogenic
1	5967305	C	T	C5967305T	NPHP4	NM_015102.5(NPHP4):c.511G>A:p.Ala171Thr	coding	Benign/Likely_benign
1	5967390	C	T	C5967390T	NPHP4	NM_015102.5(NPHP4):c.453-27G>A	noncoding	Benign
1	5978223	A	C	A5978223C	NPHP4	NM_015102.5(NPHP4):c.279+47T>G	noncoding	Benign
1	5978259	C	T	C5978259T	NPHP4	NM_015102.5(NPHP4):c.279+11G>A	noncoding	Benign
1	5986157	G	A	G5986157A	NPHP4	NM_015102.5(NPHP4):c.133C>T:p.Gln45Ter	coding	Pathogenic
1	5986204	G	A	G5986204A	NPHP4	NM_015102.5(NPHP4):c.86C>T:p.Thr29Met	coding	Benign
1	5986278	C	T	C5986278T	NPHP4	NM_015102.5(NPHP4):c.12G>A:p.Trp4Ter	coding	Pathogenic
1	6085213	G	A	G6085213A	KCNAB2	NM_001199861.2(KCNAB2):c.291G>A:p.Val97=	coding	Benign
1	6094490	G	A	G6094490A	KCNAB2	NM_001199861.2(KCNAB2):c.588+5G>A	noncoding	Benign
1	6095424	G	A	G6095424A	KCNAB2	NM_001199861.2(KCNAB2):c.690G>A:p.Pro230=	coding	Benign
1	6095603	C	A	C6095603A	KCNAB2	NM_001199861.2(KCNAB2):c.783C>A:p.Pro261=	coding	Benign
1	6096719	C	T	C6096719T	KCNAB2	NM_001199861.2(KCNAB2):c.888C>T:p.Ala296=	coding	Benign
1	6098480	C	T	C6098480T	KCNAB2	NM_001199861.2(KCNAB2):c.1015-5C>T	noncoding	Benign
1	6109928	C	T	C6109928T	CHD5	NM_015557.3(CHD5):c.5445G>A:p.Thr1815=	coding	Benign
1	6112153	G	A	G6112153A	CHD5	NM_015557.3(CHD5):c.5127C>T:p.Asp1709=	coding	Benign
1	6121240	G	A	G6121240A	CHD5	NM_015557.3(CHD5):c.4780-3C>T	noncoding	Benign
1	6135268	G	A	G6135268A	CHD5	NM_015557.3(CHD5):c.2832C>T:p.Thr944=	coding	Benign
1	6142118	G	A	G6142118A	CHD5	NM_015557.3(CHD5):c.2436+10C>T	noncoding	Benign
1	6144165	G	A	G6144165A	CHD5	NM_015557.3(CHD5):c.1803-10C>T	noncoding	Benign
1	6149418	G	A	G6149418A	CHD5	NM_015557.3(CHD5):c.995-6C>T	noncoding	Benign
1	6151087	G	C	G6151087C	CHD5	NM_015557.3(CHD5):c.939C>G:p.Ser313=	coding	Benign
1	6152418	G	A	G6152418A	CHD5	NM_015557.3(CHD5):c.864C>T:p.Gly288=	coding	Benign
1	6232010	C	T	C6232010T	ICMT	NM_012405.4(ICMT):c.564G>A:p.Val188=	coding	Benign
1	6250564	C	T	C6250564T	GPR153	NM_207370.4(GPR153):c.1040G>A:p.Gly347Asp	coding	Benign
1	6254623	G	A	G6254623A	GPR153	NM_207370.4(GPR153):c.283C>T:p.Leu95=	coding	Benign
1	6254688	C	T	C6254688T	GPR153	NM_207370.4(GPR153):c.218G>A:p.Arg73His	coding	Benign
1	6281094	G	A	G6281094A	ACOT7	NM_181864.3(ACOT7):c.1044+8C>T	noncoding	Benign
1	6294895	G	A	G6294895A	ACOT7	NM_181864.3(ACOT7):c.828C>T:p.Asp276=	coding	Benign
1	6425205	G	T	G6425205T	ESPN	NM_031475.3(ESPN):c.250G>T:p.Ala84Ser	coding	Benign
1	6425219	G	A	G6425219A	ESPN	NM_031475.3(ESPN):c.264G>A:p.Trp88Ter	coding	Pathogenic
1	6440269	A	G	A6440269G	ESPN	NM_031475.3(ESPN):c.504A>G:p.Gln168=	coding	Benign
1	6440449	C	T	C6440449T	ESPN	NM_031475.3(ESPN):c.675+9C>T	noncoding	Benign
1	6440652	C	G	C6440652G	ESPN	NM_031475.3(ESPN):c.702C>G:p.Ser234=	coding	Benign/Likely_benign
1	6440656	C	G	C6440656G	ESPN	NM_031475.3(ESPN):c.706C>G:p.Gln236Glu	coding	Benign
1	6440984	C	G	C6440984G	ESPN	NM_031475.3(ESPN):c.909C>G:p.Arg303=	coding	Benign
1	6441092	C	T	C6441092T	ESPN	NM_031475.3(ESPN):c.990+27C>T	noncoding	Benign
1	6444559	C	T	C6444559T	ESPN	NM_031475.3(ESPN):c.1069C>T:p.Pro357Ser	coding	Benign
1	6444594	T	G	T6444594G	ESPN	NM_031475.3(ESPN):c.1104T>G:p.Phe368Leu	coding	Benign/Likely_benign
1	6444763	G	A	G6444763A	ESPN	NM_031475.3(ESPN):c.1192+81G>A	noncoding	Benign
1	6445611	G	A	G6445611A	ESPN	NM_031475.3(ESPN):c.1193-53G>A	noncoding	Benign
1	6445719	G	A	G6445719A	ESPN	NM_031475.3(ESPN):c.1248G>A:p.Pro416=	coding	Benign
1	6445736	G	A	G6445736A	ESPN	NM_031475.3(ESPN):c.1265G>A:p.Arg422Gln	coding	Benign
1	6448565	A	G	A6448565G	ESPN	NM_031475.3(ESPN):c.1465-76A>G	noncoding	Benign
1	6448573	G	T	G6448573T	ESPN	NM_031475.3(ESPN):c.1465-68G>T	noncoding	Benign
1	6448652	T	C	T6448652C	ESPN	NM_031475.3(ESPN):c.1476T>C:p.Cys492=	coding	Benign
1	6448812	C	T	C6448812T	ESPN	NM_031475.3(ESPN):c.1636C>T:p.Arg546Cys	coding	Benign
1	6448885	C	T	C6448885T	ESPN	NM_031475.3(ESPN):c.1709C>T:p.Pro570Leu	coding	Benign/Likely_benign
1	6451522	A	G	A6451522G	ESPN	NM_031475.3(ESPN):c.1916-81A>G	noncoding	Benign
1	6451602	G	C	G6451602C	ESPN	NM_031475.3(ESPN):c.1916-1G>C	noncoding	Pathogenic
1	6451637	C	T	C6451637T	ESPN	NM_031475.3(ESPN):c.1950C>T:p.Gly650=	coding	Benign
1	6451755	G	A	G6451755A	ESPN	NM_031475.3(ESPN):c.2061+7G>A	noncoding	Benign
1	6451841	G	A	G6451841A	ESPN	NM_031475.3(ESPN):c.2070G>A:p.Ser690=	coding	Benign/Likely_benign
1	6451926	A	C	A6451926C	ESPN	NM_031475.3(ESPN):c.2155A>C:p.Ser719Arg	coding	Pathogenic
1	6452092	G	A	G6452092A	ESPN	NM_031475.3(ESPN):c.2321G>A:p.Arg774Gln	coding	Pathogenic
1	6457119	G	C	G6457119C	ESPN	NM_031475.3(ESPN):c.2326-65G>C	noncoding	Benign
1	6459964	C	A	C6459964A	ESPN	NM_031475.3(ESPN):c.2418-35C>A	noncoding	Benign
1	6462148	G	A	G6462148A	TNFRSF25	NM_148965.1(TNFRSF25):c.798C>T:p.Ser266=	coding	Benign
1	6464589	T	C	T6464589C	TNFRSF25	NM_148965.1(TNFRSF25):c.426A>G:p.Leu142=	coding	Benign
1	6466123	G	A	G6466123A	PLEKHG5	NM_020631.5(PLEKHG5):c.*1440C>T	noncoding	Benign
1	6466250	G	A	G6466250A	PLEKHG5	NM_020631.5(PLEKHG5):c.*1313C>T	noncoding	Benign
1	6466259	C	T	C6466259T	PLEKHG5	NM_020631.5(PLEKHG5):c.*1304G>A	noncoding	Benign
1	6466405	C	G	C6466405G	PLEKHG5	NM_020631.5(PLEKHG5):c.*1158G>C	noncoding	Benign
1	6466511	C	T	C6466511T	PLEKHG5	NM_020631.5(PLEKHG5):c.*1052G>A	noncoding	Benign
1	6466573	G	A	G6466573A	PLEKHG5	NM_020631.5(PLEKHG5):c.*990C>T	noncoding	Benign
1	6466720	C	A	C6466720A	PLEKHG5	NM_020631.5(PLEKHG5):c.*843G>T	noncoding	Benign
1	6466798	A	T	A6466798T	PLEKHG5	NM_020631.5(PLEKHG5):c.*765T>A	noncoding	Benign
1	6466866	G	A	G6466866A	PLEKHG5	NM_020631.5(PLEKHG5):c.*697C>T	noncoding	Benign
1	6467273	A	G	A6467273G	PLEKHG5	NM_020631.5(PLEKHG5):c.*290T>C	noncoding	Benign
1	6467455	C	T	C6467455T	PLEKHG5	NM_020631.5(PLEKHG5):c.*108G>A	noncoding	Benign
1	6467500	G	A	G6467500A	PLEKHG5	NM_020631.6(PLEKHG5):c.*63C>T	noncoding	Benign
1	6467536	A	G	A6467536G	PLEKHG5	NM_020631.5(PLEKHG5):c.*27T>C	noncoding	Benign
1	6467685	C	T	C6467685T	PLEKHG5	NM_020631.5(PLEKHG5):c.3012-113G>A	noncoding	Benign
1	6468009	C	G	C6468009G	PLEKHG5	NM_020631.5(PLEKHG5):c.2827G>C:p.Gly943Arg	coding	Benign
1	6468242	T	C	T6468242C	PLEKHG5	NM_020631.5(PLEKHG5):c.2594A>G:p.Gln865Arg	coding	Benign
1	6468255	G	A	G6468255A	PLEKHG5	NM_020631.5(PLEKHG5):c.2581C>T:p.Arg861Cys	coding	Benign
1	6468260	C	T	C6468260T	PLEKHG5	NM_020631.5(PLEKHG5):c.2576G>A:p.Arg859His	coding	Benign
1	6468294	G	A	G6468294A	PLEKHG5	NM_020631.5(PLEKHG5):c.2542C>T:p.Arg848Ter	coding	Pathogenic
1	6468378	C	G	C6468378G	PLEKHG5	NM_020631.5(PLEKHG5):c.2458G>C:p.Gly820Arg	coding	Pathogenic
1	6468408	C	T	C6468408T	PLEKHG5	NM_020631.5(PLEKHG5):c.2428G>A:p.Gly810Ser	coding	Benign
1	6468505	G	A	G6468505A	PLEKHG5	NM_020631.5(PLEKHG5):c.2331C>T:p.Ser777=	coding	Benign
1	6468517	G	A	G6468517A	PLEKHG5	NM_020631.5(PLEKHG5):c.2319C>T:p.Pro773=	coding	Benign
1	6468529	C	T	C6468529T	PLEKHG5	NM_020631.5(PLEKHG5):c.2307G>A:p.Thr769=	coding	Benign
1	6469128	C	T	C6469128T	PLEKHG5	NM_020631.5(PLEKHG5):c.2163G>A:p.Glu721=	coding	Benign
1	6469238	G	A	G6469238A	PLEKHG5	NM_020631.5(PLEKHG5):c.2053C>T:p.Gln685Ter	coding	Pathogenic
1	6469383	A	G	A6469383G	PLEKHG5	NM_020631.5(PLEKHG5):c.2001T>C:p.Ser667=	coding	Benign
1	6469581	G	A	G6469581A	PLEKHG5	NM_020631.5(PLEKHG5):c.1896C>T:p.Leu632=	coding	Benign/Likely_benign
1	6469659	G	A	G6469659A	PLEKHG5	NM_020631.5(PLEKHG5):c.1818C>T:p.Phe606=	coding	Benign/Likely_benign
1	6469688	G	T	G6469688T	PLEKHG5	NM_020631.5(PLEKHG5):c.1801-12C>A	noncoding	Benign
1	6470129	G	A	G6470129A	PLEKHG5	NM_020631.5(PLEKHG5):c.1800+107C>T	noncoding	Benign
1	6470860	G	A	G6470860A	PLEKHG5	NM_020631.6(PLEKHG5):c.1417C>T:p.Gln473Ter	coding	Pathogenic
1	6471064	T	C	T6471064C	PLEKHG5	NM_020631.5(PLEKHG5):c.1318A>G:p.Met440Val	coding	Benign
1	6471211	A	G	A6471211G	PLEKHG5	NM_020631.5(PLEKHG5):c.1282-111T>C	noncoding	Benign
1	6471515	G	C	G6471515C	PLEKHG5	NM_020631.5(PLEKHG5):c.1254C>G:p.Pro418=	coding	Benign/Likely_benign
1	6471529	C	T	C6471529T	PLEKHG5	NM_020631.5(PLEKHG5):c.1240G>A:p.Ala414Thr	coding	Benign
1	6471590	C	T	C6471590T	PLEKHG5	NM_020631.5(PLEKHG5):c.1179G>A:p.Leu393=	coding	Benign
1	6473243	C	T	C6473243T	PLEKHG5	NM_020631.5(PLEKHG5):c.795+8G>A	noncoding	Benign
1	6473275	G	C	G6473275C	PLEKHG5	NM_020631.5(PLEKHG5):c.771C>G:p.Gly257=	coding	Benign
1	6473333	G	C	G6473333C	PLEKHG5	NM_020631.5(PLEKHG5):c.713C>G:p.Thr238Ser	coding	Benign
1	6473355	C	T	C6473355T	PLEKHG5	NM_020631.5(PLEKHG5):c.691G>A:p.Gly231Ser	coding	Benign/Likely_benign
1	6473468	G	A	G6473468A	PLEKHG5	NM_020631.5(PLEKHG5):c.592-14C>T	noncoding	Benign
1	6473942	C	T	C6473942T	PLEKHG5	NM_020631.5(PLEKHG5):c.591+71G>A	noncoding	Benign
1	6473961	C	T	C6473961T	PLEKHG5	NM_020631.5(PLEKHG5):c.591+52G>A	noncoding	Benign
1	6473985	C	G	C6473985G	PLEKHG5	NM_020631.5(PLEKHG5):c.591+28G>C	noncoding	Benign
1	6474109	C	T	C6474109T	PLEKHG5	NM_020631.5(PLEKHG5):c.495G>A:p.Lys165=	coding	Benign
1	6474170	T	C	T6474170C	PLEKHG5	NM_020631.5(PLEKHG5):c.440-6A>G	noncoding	Benign
1	6474174	G	A	G6474174A	PLEKHG5	NM_020631.5(PLEKHG5):c.440-10C>T	noncoding	Benign/Likely_benign
1	6474721	G	A	G6474721A	PLEKHG5	NM_020631.5(PLEKHG5):c.303-134C>T	noncoding	Benign
1	6474871	A	G	A6474871G	PLEKHG5	NM_020631.5(PLEKHG5):c.302+176T>C	noncoding	Benign
1	6475037	C	A	C6475037A	PLEKHG5	NM_020631.5(PLEKHG5):c.302+10G>T	noncoding	Benign
1	6475089	A	G	A6475089G	PLEKHG5	NM_020631.5(PLEKHG5):c.260T>C:p.Ile87Thr	coding	Benign
1	6475993	C	T	C6475993T	PLEKHG5	NM_020631.5(PLEKHG5):c.87G>A:p.Pro29=	coding	Benign/Likely_benign
1	6477516	C	T	C6477516T	PLEKHG5	NM_020631.5(PLEKHG5):c.43+13G>A	noncoding	Benign
1	6477542	G	A	G6477542A	PLEKHG5	NM_020631.5(PLEKHG5):c.30C>T:p.Asp10=	coding	Benign
1	6485330	A	T	A6485330T	PLEKHG5	NM_020631.5(PLEKHG5):c.-88+6307T>A	coding	Benign
1	6490445	C	T	C6490445T	PLEKHG5	NM_020631.5(PLEKHG5):c.-88+1192G>A	coding	Benign
1	6491632	C	T	C6491632T	PLEKHG5	NM_020631.5(PLEKHG5):c.-88+5G>A	noncoding	Benign
1	6496949	A	C	A6496949C	PLEKHG5	NM_198681.4(PLEKHG5):c.-164-380T>G	noncoding	Benign
1	6519547	C	T	C6519547T	PLEKHG5	NM_198681.4(PLEKHG5):c.-267G>A	noncoding	Benign
1	6570918	C	T	C6570918T	TAS1R1	NM_138697.4(TAS1R1):c.201C>T:p.Ser67=	coding	Benign
1	6574673	C	G	C6574673G	TAS1R1	NM_138697.4(TAS1R1):c.541C>G:p.Gln181Glu	coding	Benign
1	6575249	C	A	C6575249A	TAS1R1	NM_138697.4(TAS1R1):c.1117C>A:p.His373Asn	coding	Benign
1	6578865	C	T	C6578865T	TAS1R1	NM_138697.4(TAS1R1):c.1807C>T:p.Arg603Cys	coding	Benign
1	6578866	G	A	G6578866A	TAS1R1	NM_138697.4(TAS1R1):c.1808G>A:p.Arg603His	coding	Benign
1	6616868	T	C	T6616868C	PHF13	NM_153812.3(PHF13):c.141+10T>C	noncoding	Benign
1	6620192	G	A	G6620192A	PHF13	NM_153812.3(PHF13):c.531G>A:p.Ser177=	coding	Benign
1	6636172	G	A	G6636172A	DNAJC11	NM_018198.4(DNAJC11):c.1599C>T:p.Gly533=	coding	Benign
1	6637225	C	T	C6637225T	DNAJC11	NM_018198.4(DNAJC11):c.1497G>A:p.Ser499=	coding	Benign
1	6825174	T	C	T6825174C	CAMTA1	NM_015215.4(CAMTA1):c.198T>C:p.Ser66=	coding	Benign
1	6825215	A	T	A6825215T	CAMTA1	NM_015215.4(CAMTA1):c.234+5A>T	noncoding	Benign
1	7249551	G	A	G7249551A	CAMTA1	NM_015215.4(CAMTA1):c.363G>A:p.Gly121=	coding	Benign
1	7640395	C	T	C7640395T	CAMTA1	NM_015215.4(CAMTA1):c.511-5C>T	noncoding	Benign
1	7640399	G	A	G7640399A	CAMTA1	NM_015215.4(CAMTA1):c.511-1G>A	noncoding	Pathogenic
1	7640438	G	A	G7640438A	CAMTA1	NM_015215.4(CAMTA1):c.549G>A:p.Pro183=	coding	Benign
1	7640502	G	T	G7640502T	CAMTA1	NM_015215.4(CAMTA1):c.613G>T:p.Glu205Ter	coding	Pathogenic
1	7663486	C	T	C7663486T	CAMTA1	NM_015215.4(CAMTA1):c.939C>T:p.His313=	coding	Benign
1	7663528	C	T	C7663528T	CAMTA1	NM_015215.4(CAMTA1):c.981C>T:p.Asn327=	coding	Benign
1	7663533	A	G	A7663533G	CAMTA1	NM_015215.4(CAMTA1):c.986A>G:p.Lys329Arg	coding	Benign
1	7663792	C	T	C7663792T	CAMTA1	NM_015215.4(CAMTA1):c.1245C>T:p.Thr415=	coding	Benign
1	7663873	C	T	C7663873T	CAMTA1	NM_015215.4(CAMTA1):c.1326C>T:p.Phe442=	coding	Benign
1	7664149	C	T	C7664149T	CAMTA1	NM_015215.4(CAMTA1):c.1602C>T:p.Thr534=	coding	Benign
1	7664159	T	A	T7664159A	CAMTA1	NM_015215.4(CAMTA1):c.1612T>A:p.Ser538Thr	coding	Benign
1	7664353	G	A	G7664353A	CAMTA1	NM_015215.4(CAMTA1):c.1806G>A:p.Thr602=	coding	Benign
1	7664389	G	A	G7664389A	CAMTA1	NM_015215.4(CAMTA1):c.1842G>A:p.Pro614=	coding	Benign
1	7664530	C	T	C7664530T	CAMTA1	NM_015215.4(CAMTA1):c.1983C>T:p.His661=	coding	Benign
1	7664637	C	T	C7664637T	CAMTA1	NM_015215.4(CAMTA1):c.2090C>T:p.Ala697Val	coding	Benign
1	7664737	C	T	C7664737T	CAMTA1	NM_015215.4(CAMTA1):c.2190C>T:p.Ala730=	coding	Benign
1	7664773	G	A	G7664773A	CAMTA1	NM_015215.4(CAMTA1):c.2226G>A:p.Gln742=	coding	Benign
1	7664938	G	A	G7664938A	CAMTA1	NM_015215.4(CAMTA1):c.2391G>A:p.Ser797=	coding	Benign
1	7665186	G	A	G7665186A	CAMTA1	NM_015215.4(CAMTA1):c.2639G>A:p.Trp880Ter	coding	Pathogenic
1	7670988	A	G	A7670988G	CAMTA1	NM_015215.4(CAMTA1):c.2730A>G:p.Ser910=	coding	Benign
1	7732460	G	A	G7732460A	CAMTA1	NM_015215.4(CAMTA1):c.2927G>A:p.Arg976Lys	coding	Benign
1	7736355	G	T	G7736355T	CAMTA1	NM_015215.4(CAMTA1):c.3078G>T:p.Gly1026=	coding	Benign
1	7736493	C	T	C7736493T	CAMTA1	NM_015215.4(CAMTA1):c.3216C>T:p.Ala1072=	coding	Benign
1	7736940	C	T	C7736940T	CAMTA1	NM_015215.4(CAMTA1):c.3273C>T:p.His1091=	coding	Benign
1	7737290	C	T	C7737290T	CAMTA1	NM_015215.4(CAMTA1):c.3378C>T:p.Ala1126=	coding	Benign
1	7737332	C	T	C7737332T	CAMTA1	NM_015215.4(CAMTA1):c.3420C>T:p.Pro1140=	coding	Benign
1	7737383	G	A	G7737383A	CAMTA1	NM_015215.4(CAMTA1):c.3471G>A:p.Val1157=	coding	Benign
1	7737474	C	T	C7737474T	CAMTA1	NM_015215.4(CAMTA1):c.3562C>T:p.Pro1188Ser	coding	Benign
1	7737485	G	C	G7737485C	CAMTA1	NM_015215.4(CAMTA1):c.3573G>C:p.Glu1191Asp	coding	Benign
1	7737559	G	A	G7737559A	CAMTA1	NM_015215.4(CAMTA1):c.3647G>A:p.Ser1216Asn	coding	Benign
1	7737565	A	C	A7737565C	CAMTA1	NM_015215.4(CAMTA1):c.3653A>C:p.Asn1218Thr	coding	Benign
1	7738231	C	T	C7738231T	CAMTA1	NM_015215.4(CAMTA1):c.3931C>T:p.Gln1311Ter	coding	Pathogenic
1	7738307	C	T	C7738307T	CAMTA1	NM_015215.4(CAMTA1):c.4007C>T:p.Thr1336Ile	coding	Benign/Likely_benign
1	7738425	G	A	G7738425A	CAMTA1	NM_015215.4(CAMTA1):c.4125G>A:p.Gly1375=	coding	Benign
1	7744837	G	A	G7744837A	CAMTA1	NM_015215.4(CAMTA1):c.4185G>A:p.Val1395=	coding	Benign
1	7744883	C	T	C7744883T	CAMTA1	NM_015215.4(CAMTA1):c.4231C>T:p.Arg1411Ter	coding	Pathogenic
1	7751240	C	T	C7751240T	CAMTA1	NM_015215.4(CAMTA1):c.4731C>T:p.Ile1577=	coding	Benign
1	7785507	C	T	C7785507T	PER3	NM_016831.3(PER3):c.195C>T:p.Tyr65=	coding	Benign
1	7809893	C	G	C7809893G	PER3	NM_016831.3(PER3):c.1240C>G:p.Pro414Ala	coding	Pathogenic
1	7809900	A	G	A7809900G	PER3	NM_016831.3(PER3):c.1247A>G:p.His416Arg	coding	Pathogenic
1	7809908	G	A	G7809908A	PER3	NM_016831.3(PER3):c.1255G>A:p.Val419Met	coding	Benign
1	7820525	A	T	A7820525T	PER3	NM_016831.3(PER3):c.1818A>T:p.Ile606=	coding	Benign
1	7827174	C	T	C7827174T	PER3	NM_016831.3(PER3):c.2221C>T:p.Arg741Trp	coding	Benign
1	7827202	G	A	G7827202A	PER3	NM_016831.3(PER3):c.2249G>A:p.Ser750Asn	coding	Benign
1	7827344	C	T	C7827344T	PER3	NM_016831.3(PER3):c.2391C>T:p.Tyr797=	coding	Benign
1	7827439	T	G	T7827439G	PER3	NM_016831.3(PER3):c.2486T>G:p.Leu829Trp	coding	Benign
1	7829887	A	G	A7829887G	PER3	NM_016831.3(PER3):c.2913A>G:p.Ala971=	coding	Benign
1	7829896	G	A	G7829896A	PER3	NM_016831.3(PER3):c.2922G>A:p.Thr974=	coding	Benign
1	7842676	G	C	G7842676C	PER3	NM_016831.3(PER3):c.3527G>C:p.Cys1176Ser	coding	Benign
1	7852915	G	A	G7852915A	UTS2	NM_006786.4(UTS2):c.89C>T:p.Ser30Phe	coding	Benign
1	7935030	G	T	G7935030T	TNFRSF9	NM_001561.6(TNFRSF9):c.527C>A:p.Ala176Asp	coding	Benign
1	7938763	C	T	C7938763T	TNFRSF9	NM_001561.6(TNFRSF9):c.166G>A:p.Ala56Thr	coding	Benign
1	7939911	A	G	A7939911G	TNFRSF9	NM_001561.6(TNFRSF9):c.84T>C:p.Cys28=	coding	Benign
1	7939965	G	A	G7939965A	TNFRSF9	NM_001561.6(TNFRSF9):c.30C>T:p.Ala10=	coding	Benign
1	7961718	T	C	T7961718C	PARK7	NM_007262.5(PARK7):c.-99T>C	noncoding	Benign
1	7961747	C	T	C7961747T	PARK7	NM_007262.5(PARK7):c.-70C>T	noncoding	Benign
1	7962764	C	T	C7962764T	PARK7	NM_007262.5(PARK7):c.-22C>T	noncoding	Benign
1	7962863	G	A	G7962863A	PARK7	NM_007262.5(PARK7):c.78G>A:p.Met26Ile	coding	Pathogenic
1	7965348	G	T	G7965348T	PARK7	NM_007262.5(PARK7):c.115G>T:p.Ala39Ser	coding	Pathogenic
1	7965366	C	T	C7965366T	PARK7	NM_007262.5(PARK7):c.133C>T:p.Gln45Ter	coding	Pathogenic
1	7965399	G	A	G7965399A	PARK7	NM_007262.5(PARK7):c.166G>A:p.Ala56Thr	coding	Benign
1	7965425	G	C	G7965425C	PARK7	NM_007262.5(PARK7):c.192G>C:p.Glu64Asp	coding	Pathogenic
1	7969386	C	T	C7969386T	PARK7	NM_007262.5(PARK7):c.234C>T:p.Gly78=	coding	Benign/Likely_benign
1	7970934	G	A	G7970934A	PARK7	NM_007262.5(PARK7):c.293G>A:p.Arg98Gln	coding	Benign/Likely_benign
1	7977638	A	G	A7977638G	PARK7	NM_007262.5(PARK7):c.323-14A>G	noncoding	Benign
1	7984930	A	C	A7984930C	PARK7	NM_007262.5(PARK7):c.446A>C:p.Asp149Ala	coding	Pathogenic
1	7984981	T	C	T7984981C	PARK7	NM_007262.5(PARK7):c.497T>C:p.Leu166Pro	coding	Pathogenic
1	8013869	G	T	G8013869T	ERRFI1	NM_018948.4(ERRFI1):c.730C>A:p.Arg244=	coding	Benign
1	8013883	G	A	G8013883A	ERRFI1	NM_018948.4(ERRFI1):c.716C>T:p.Pro239Leu	coding	Benign
1	8014127	T	G	T8014127G	ERRFI1	NM_018948.4(ERRFI1):c.472A>C:p.Ile158Leu	coding	Benign
1	8318168	C	G	C8318168G	SLC45A1	NM_001080397.3(SLC45A1):c.-43C>G	coding	Benign
1	8325853	C	T	C8325853T	SLC45A1	NM_001080397.2(SLC45A1):c.628C>T:p.Arg210Trp	coding	Pathogenic
1	8325927	G	A	G8325927A	SLC45A1	NM_001080397.3(SLC45A1):c.600G>A:p.Val200=	coding	Benign
1	8325939	C	T	C8325939T	SLC45A1	NM_001080397.3(SLC45A1):c.612C>T:p.Asp204=	coding	Benign
1	8325956	C	T	C8325956T	SLC45A1	NM_001080397.2(SLC45A1):c.731C>T:p.Ala244Val	coding	Pathogenic
1	8325957	G	A	G8325957A	SLC45A1	NM_001080397.3(SLC45A1):c.630G>A:p.Ala210=	coding	Benign
1	8335517	C	T	C8335517T	SLC45A1	NM_001080397.3(SLC45A1):c.1524C>T:p.Ser508=	coding	Benign
1	8339614	G	A	G8339614A	SLC45A1	NM_001080397.3(SLC45A1):c.1896G>A:p.Ser632=	coding	Benign
1	8343764	G	A	G8343764A	SLC45A1	NM_001080397.3(SLC45A1):c.1998G>A:p.Ala666=	coding	Benign
1	8343908	C	T	C8343908T	SLC45A1	NM_001080397.3(SLC45A1):c.2142C>T:p.Leu714=	coding	Benign
1	8355558	G	T	G8355558T	RERE	NM_001042681.2(RERE):c.4528C>A:p.Pro1510Thr	coding	Benign
1	8358216	T	C	T8358216C	RERE	NM_001042681.2(RERE):c.4319A>G:p.Gln1440Arg	coding	Pathogenic
1	8358231	T	C	T8358231C	RERE	NM_001042681.2(RERE):c.4304A>G:p.His1435Arg	coding	Pathogenic/Likely_pathogenic
1	8358232	G	A	G8358232A	RERE	NM_001042681.2(RERE):c.4303C>T:p.His1435Tyr	coding	Pathogenic
1	8358235	A	G	A8358235G	RERE	NM_001042681.2(RERE):c.4300T>C:p.Ser1434Pro	coding	Pathogenic
1	8358539	T	C	T8358539C	RERE	NM_001042681.2(RERE):c.3996A>G:p.Pro1332=	coding	Benign
1	8358650	G	A	G8358650A	RERE	NM_001042681.2(RERE):c.3885C>T:p.Val1295=	coding	Benign
1	8358839	G	A	G8358839A	RERE	NM_001042681.2(RERE):c.3696C>T:p.Phe1232=	coding	Benign
1	8358860	A	G	A8358860G	RERE	NM_001042681.2(RERE):c.3675T>C:p.Pro1225=	coding	Benign
1	8359794	T	C	T8359794C	RERE	NM_001042681.2(RERE):c.3588A>G:p.Arg1196=	coding	Benign
1	8359796	G	A	G8359796A	RERE	NM_001042681.2(RERE):c.3586C>T:p.Arg1196Ter	coding	Pathogenic
1	8359916	C	T	C8359916T	RERE	NM_001042681.2(RERE):c.3466G>A:p.Gly1156Arg	coding	Pathogenic
1	8360165	C	T	C8360165T	RERE	NM_001042681.2(RERE):c.3342G>A:p.Pro1114=	coding	Benign
1	8360210	G	A	G8360210A	RERE	NM_001042681.2(RERE):c.3297C>T:p.Asp1099=	coding	Benign
1	8360361	G	A	G8360361A	RERE	NM_001042681.2(RERE):c.3146C>T:p.Pro1049Leu	coding	Pathogenic/Likely_pathogenic
1	8360419	G	A	G8360419A	RERE	NM_001042681.2(RERE):c.3088C>T:p.Pro1030Ser	coding	Benign
1	8360443	G	C	G8360443C	RERE	NM_001042681.2(RERE):c.3064C>G:p.Pro1022Ala	coding	Benign
1	8360612	G	A	G8360612A	RERE	NM_001042681.2(RERE):c.2895C>T:p.Pro965=	coding	Benign
1	8360909	T	A	T8360909A	RERE	NM_001042681.2(RERE):c.2598A>T:p.Pro866=	coding	Benign
1	8364736	G	A	G8364736A	RERE	NM_001042681.2(RERE):c.1540+10C>T	noncoding	Benign
1	8364845	G	A	G8364845A	RERE	NM_001042681.2(RERE):c.1448-7C>T	noncoding	Benign
1	8365858	C	T	C8365858T	RERE	NM_001042681.2(RERE):c.1401G>A:p.Ala467=	coding	Benign
1	8422737	T	C	T8422737C	RERE	NM_001042681.2(RERE):c.1274A>G:p.Asn425Ser	coding	Benign
1	8495084	G	T	G8495084T	RERE	NM_001042681.2(RERE):c.1083C>A:p.Thr361=	coding	Benign
1	8624304	G	A	G8624304A	RERE	NM_001042681.2(RERE):c.396+6C>T	noncoding	Benign
1	8624343	C	T	C8624343T	RERE	NM_001042681.2(RERE):c.363G>A:p.Pro121=	coding	Benign
1	8656082	C	T	C8656082T	RERE	NM_001042681.2(RERE):c.216G>A:p.Thr72=	coding	Benign
1	8861360	T	C	T8861360C	ENO1	NM_001428.5(ENO1):c.1305A>G:p.Ter435=	coding	Benign
1	8865415	G	A	G8865415A	ENO1	NM_001428.5(ENO1):c.735C>T:p.Asp245=	coding	Benign
1	8949393	C	T	C8949393T	CA6	NM_001215.4(CA6):c.210C>T:p.Gly70=	coding	Benign
1	9013532	A	T	A9013532T	SLC2A7	NM_207420.2(SLC2A7):c.1007T>A:p.Ile336Asn	coding	Benign
1	9014810	C	T	C9014810T	SLC2A7	NM_207420.2(SLC2A7):c.774G>A:p.Ala258=	coding	Benign
1	9023035	G	T	G9023035T	SLC2A7	NM_207420.2(SLC2A7):c.194C>A:p.Ala65Glu	coding	Benign
1	9047700	T	C	T9047700C	SLC2A5	NM_003039.3(SLC2A5):c.328A>G:p.Ile110Val	coding	Benign
1	9245120	C	T	C9245120T	H6PD	NM_004285.4(H6PD):c.186C>T:p.Phe62=	coding	Benign
1	9245189	C	T	C9245189T	H6PD	NM_004285.4(H6PD):c.255C>T:p.Ser85=	coding	Benign
1	9245334	C	T	C9245334T	H6PD	NM_004285.4(H6PD):c.400C>T:p.Arg134Trp	coding	Benign
1	9246958	C	G	C9246958G	H6PD	NM_004285.4(H6PD):c.628-8C>G	noncoding	Benign
1	9246958	C	T	C9246958T	H6PD	NM_004285.4(H6PD):c.628-8C>T	noncoding	Benign
1	9246959	C	G	C9246959G	H6PD	NM_004285.4(H6PD):c.628-7C>G	noncoding	Benign
1	9246973	C	T	C9246973T	H6PD	NM_004285.4(H6PD):c.635C>T:p.Ala212Val	coding	Benign
1	9247016	C	T	C9247016T	H6PD	NM_004285.4(H6PD):c.678C>T:p.Asp226=	coding	Benign
1	9247017	G	A	G9247017A	H6PD	NM_004285.4(H6PD):c.679G>A:p.Gly227Ser	coding	Benign
1	9247070	C	A	C9247070A	H6PD	NM_004285.4(H6PD):c.732C>A:p.Thr244=	coding	Benign
1	9247171	T	A	T9247171A	H6PD	NM_004285.4(H6PD):c.745+88T>A	noncoding	Benign
1	9262084	C	T	C9262084T	H6PD	NM_004285.4(H6PD):c.771C>T:p.Tyr257=	coding	Benign
1	9262240	C	T	C9262240T	H6PD	NM_004285.4(H6PD):c.927C>T:p.Val309=	coding	Benign
1	9262261	C	G	C9262261G	H6PD	NM_004285.4(H6PD):c.948C>G:p.Tyr316Ter	coding	Pathogenic
1	9262273	G	A	G9262273A	H6PD	NM_004285.4(H6PD):c.960G>A:p.Val320=	coding	Pathogenic
1	9262324	C	T	C9262324T	H6PD	NM_004285.4(H6PD):c.1011C>T:p.Phe337=	coding	Benign
1	9263546	C	T	C9263546T	H6PD	NM_004285.4(H6PD):c.1053C>T:p.Gly351=	coding	Benign
1	9263569	G	A	G9263569A	H6PD	NM_004285.4(H6PD):c.1076G>A:p.Gly359Asp	coding	Pathogenic
1	9263891	C	T	C9263891T	H6PD	NM_004285.4(H6PD):c.1398C>T:p.Phe466=	coding	Benign
1	9263943	A	G	A9263943G	H6PD	NM_004285.4(H6PD):c.1450A>G:p.Asn484Asp	coding	Benign
1	9264218	T	C	T9264218C	H6PD	NM_004285.4(H6PD):c.1725T>C:p.Ala575=	coding	Benign
1	9264227	C	T	C9264227T	H6PD	NM_004285.4(H6PD):c.1734C>T:p.Ala578=	coding	Benign
1	9264263	G	A	G9264263A	H6PD	NM_004285.4(H6PD):c.1770G>A:p.Ser590=	coding	Benign
1	9264279	G	A	G9264279A	H6PD	NM_004285.4(H6PD):c.1786G>A:p.Val596Met	coding	Benign
1	9264335	G	A	G9264335A	H6PD	NM_004285.4(H6PD):c.1842G>A:p.Thr614=	coding	Benign
1	9264760	C	T	C9264760T	H6PD	NM_004285.4(H6PD):c.2267C>T:p.Thr756Met	coding	Benign
1	9595907	C	T	C9595907T	TMEM201	NM_001130924.3(TMEM201):c.131C>T:p.Thr44Met	coding	Benign
1	9596879	G	A	G9596879A	TMEM201	NM_001130924.3(TMEM201):c.255G>A:p.Pro85=	coding	Benign
1	9597060	C	T	C9597060T	TMEM201	NM_001130924.3(TMEM201):c.429+7C>T	noncoding	Benign
1	9598619	C	T	C9598619T	TMEM201	NM_001130924.3(TMEM201):c.600C>T:p.His200=	coding	Benign
1	9601131	G	A	G9601131A	TMEM201	NM_001130924.3(TMEM201):c.633G>A:p.Pro211=	coding	Benign
1	9601293	C	A	C9601293A	TMEM201	NM_001130924.3(TMEM201):c.795C>A:p.Thr265=	coding	Benign
1	9610680	C	A	C9610680A	TMEM201	NM_001130924.3(TMEM201):c.1640C>A:p.Pro547His	coding	Benign
1	9612988	C	T	C9612988T	TMEM201	NM_001130924.3(TMEM201):c.1906C>T:p.Arg636Cys	coding	Benign
1	9654484	G	C	G9654484C	PIK3CD	NM_005026.5(PIK3CD):c.-138+2682G>C	noncoding	Benign
1	9715741	C	T	C9715741T	PIK3CD	NM_005026.5(PIK3CD):c.342C>T:p.Asn114=	coding	Benign
1	9715844	C	T	C9715844T	PIK3CD	NM_005026.5(PIK3CD):c.371-5C>T	noncoding	Benign
1	9715846	C	T	C9715846T	PIK3CD	NM_005026.5(PIK3CD):c.371-3C>T	noncoding	Benign
1	9715914	T	A	T9715914A	PIK3CD	NM_005026.5(PIK3CD):c.436T>A:p.Phe146Ile	coding	Benign
1	9716036	G	A	G9716036A	PIK3CD	NM_005026.5(PIK3CD):c.558G>A:p.Pro186=	coding	Benign
1	9716517	A	G	A9716517G	PIK3CD	NM_005026.5(PIK3CD):c.678A>G:p.Thr226=	coding	Benign
1	9716547	G	A	G9716547A	PIK3CD	NM_005026.5(PIK3CD):c.708G>A:p.Pro236=	coding	Benign
1	9717003	C	G	C9717003G	PIK3CD	NM_005026.5(PIK3CD):c.825C>G:p.Thr275=	coding	Benign
1	9717064	G	A	G9717064A	PIK3CD	NM_005026.5(PIK3CD):c.886G>A:p.Val296Ile	coding	Benign
1	9717528	G	C	G9717528C	PIK3CD	NM_005026.5(PIK3CD):c.931-9G>C	noncoding	Benign
1	9717541	C	G	C9717541G	PIK3CD	NM_005026.5(PIK3CD):c.935C>G:p.Ser312Cys	coding	Benign
1	9717608	C	A	C9717608A	PIK3CD	NM_005026.5(PIK3CD):c.1002C>A:p.Asn334Lys	coding	Pathogenic
1	9717608	C	T	C9717608T	PIK3CD	NM_005026.5(PIK3CD):c.1002C>T:p.Asn334=	coding	Benign
1	9717611	C	T	C9717611T	PIK3CD	NM_005026.5(PIK3CD):c.1005C>T:p.Ala335=	coding	Benign
1	9718708	C	T	C9718708T	PIK3CD	NM_005026.5(PIK3CD):c.1035C>T:p.Ala345=	coding	Benign
1	9719924	T	C	T9719924C	PIK3CD	NM_005026.5(PIK3CD):c.1246T>C:p.Cys416Arg	coding	Pathogenic
1	9720138	A	G	A9720138G	PIK3CD	NM_005026.5(PIK3CD):c.1366A>G:p.Thr456Ala	coding	Benign
1	9720166	C	T	C9720166T	PIK3CD	NM_005026.5(PIK3CD):c.1394C>T:p.Thr465Met	coding	Benign
1	9720793	G	A	G9720793A	PIK3CD	NM_005026.5(PIK3CD):c.1573G>A:p.Glu525Lys	coding	Pathogenic
1	9720849	G	A	G9720849A	PIK3CD	NM_005026.5(PIK3CD):c.1629G>A:p.Pro543=	coding	Benign
1	9720929	T	C	T9720929C	PIK3CD	NM_005026.5(PIK3CD):c.1689+20T>C	noncoding	Benign
1	9721147	C	T	C9721147T	PIK3CD	NM_005026.5(PIK3CD):c.1710C>T:p.Ser570=	coding	Benign
1	9721222	C	T	C9721222T	PIK3CD	NM_005026.5(PIK3CD):c.1785C>T:p.Phe595=	coding	Benign
1	9721246	G	C	G9721246C	PIK3CD	NM_005026.5(PIK3CD):c.1809G>C:p.Leu603=	coding	Benign
1	9721447	C	T	C9721447T	PIK3CD	NM_005026.5(PIK3CD):c.1815C>T:p.Asp605=	coding	Benign
1	9721456	G	A	G9721456A	PIK3CD	NM_005026.5(PIK3CD):c.1824G>A:p.Leu608=	coding	Benign
1	9721495	C	T	C9721495T	PIK3CD	NM_005026.5(PIK3CD):c.1863C>T:p.Tyr621=	coding	Benign
1	9721585	C	T	C9721585T	PIK3CD	NM_005026.5(PIK3CD):c.1953C>T:p.Leu651=	coding	Benign
1	9722013	C	T	C9722013T	PIK3CD	NM_005026.5(PIK3CD):c.2094C>T:p.Phe698=	coding	Benign
1	9722244	C	T	C9722244T	PIK3CD	NM_005026.5(PIK3CD):c.2235C>T:p.Cys745=	coding	Benign
1	9722328	C	T	C9722328T	PIK3CD	NM_005026.5(PIK3CD):c.2319C>T:p.Ser773=	coding	Benign
1	9722614	C	T	C9722614T	PIK3CD	NM_005026.5(PIK3CD):c.2426+8C>T	noncoding	Benign
1	9723118	T	G	T9723118G	PIK3CD	NM_005026.5(PIK3CD):c.2427-7T>G	noncoding	Benign
1	9724365	C	T	C9724365T	PIK3CD	NM_005026.5(PIK3CD):c.2808C>T:p.Tyr936=	coding	Benign
1	9724377	T	C	T9724377C	PIK3CD	NM_005026.5(PIK3CD):c.2820T>C:p.His940=	coding	Benign
1	9724858	C	T	C9724858T	PIK3CD	NM_005026.5(PIK3CD):c.2919C>T:p.Leu973=	coding	Benign
1	9726957	C	T	C9726957T	PIK3CD	NM_005026.5(PIK3CD):c.3046C>T:p.Arg1016Ter	coding	Pathogenic
1	9726972	G	A	G9726972A	PIK3CD	NM_005026.5(PIK3CD):c.3061G>A:p.Glu1021Lys	coding	Pathogenic
1	9727004	G	C	G9727004C	PIK3CD	NM_005026.5(PIK3CD):c.3093G>C:p.Val1031=	coding	Benign
1	9749561	T	C	T9749561C	CLSTN1	NM_001009566.3(CLSTN1):c.885A>G:p.Pro295=	coding	Benign
1	9749618	C	T	C9749618T	CLSTN1	NM_001009566.3(CLSTN1):c.828G>A:p.Pro276=	coding	Benign
1	9773277	A	T	A9773277T	CLSTN1	NM_001009566.3(CLSTN1):c.209T>A:p.Phe70Tyr	coding	Benign
1	9943503	C	T	C9943503T	NMNAT1	NM_022787.4(NMNAT1):c.-69C>T	noncoding	Pathogenic
1	9972074	A	G	A9972074G	NMNAT1	NM_022787.4(NMNAT1):c.1A>G:p.Met1Val	coding	Pathogenic
1	9972096	A	C	A9972096C	NMNAT1	NM_022787.4(NMNAT1):c.23A>C:p.Glu8Ala	coding	Benign
1	9972098	G	A	G9972098A	NMNAT1	NM_022787.4(NMNAT1):c.25G>A:p.Val9Met	coding	Pathogenic
1	9972126	A	G	A9972126G	NMNAT1	NM_022787.4(NMNAT1):c.53A>G:p.Asn18Ser	coding	Pathogenic/Likely_pathogenic
1	9972191	A	G	A9972191G	NMNAT1	NM_022787.4(NMNAT1):c.115+3A>G	noncoding	Benign/Likely_benign
1	9975675	G	T	G9975675T	NMNAT1	NM_022787.4(NMNAT1):c.199G>T:p.Val67Phe	coding	Pathogenic
1	9975681	A	G	A9975681G	NMNAT1	NM_022787.4(NMNAT1):c.205A>G:p.Met69Val	coding	Pathogenic
1	9975769	T	G	T9975769G	NMNAT1	NM_022787.4(NMNAT1):c.293T>G:p.Val98Gly	coding	Pathogenic
1	9981050	G	T	G9981050T	NMNAT1	NM_022787.4(NMNAT1):c.319G>T:p.Glu107Ter	coding	Pathogenic
1	9981107	A	T	A9981107T	NMNAT1	NM_022787.4(NMNAT1):c.376A>T:p.Lys126Ter	coding	Pathogenic
1	9981171	G	C	G9981171C	NMNAT1	NM_022787.4(NMNAT1):c.439+1G>C	coding	Pathogenic
1	9982312	G	T	G9982312T	NMNAT1	NM_022787.4(NMNAT1):c.451G>T:p.Val151Phe	coding	Pathogenic
1	9982318	C	G	C9982318G	NMNAT1	NM_022787.4(NMNAT1):c.457C>G:p.Leu153Val	coding	Pathogenic
1	9982332	A	G	A9982332G	NMNAT1	NM_022787.4(NMNAT1):c.471A>G:p.Ala157=	coding	Benign
1	9982368	G	A	G9982368A	NMNAT1	NM_022787.4(NMNAT1):c.507G>A:p.Trp169Ter	coding	Pathogenic
1	9982480	C	T	C9982480T	NMNAT1	NM_022787.4(NMNAT1):c.619C>T:p.Arg207Trp	coding	Pathogenic
1	9982490	T	C	T9982490C	NMNAT1	NM_022787.4(NMNAT1):c.629T>C:p.Ile210Thr	coding	Pathogenic
1	9982495	G	A	G9982495A	NMNAT1	NM_022787.4(NMNAT1):c.634G>A:p.Val212Met	coding	Pathogenic
1	9982504	G	T	G9982504T	NMNAT1	NM_022787.4(NMNAT1):c.643G>T:p.Glu215Ter	coding	Pathogenic
1	9982541	G	A	G9982541A	NMNAT1	NM_022787.4(NMNAT1):c.680G>A:p.Arg227Gln	coding	Pathogenic/Likely_pathogenic
1	9982570	C	T	C9982570T	NMNAT1	NM_022787.4(NMNAT1):c.709C>T:p.Arg237Cys	coding	Pathogenic
1	9982571	G	T	G9982571T	NMNAT1	NM_022787.4(NMNAT1):c.710G>T:p.Arg237Leu	coding	Pathogenic
1	9982577	T	C	T9982577C	NMNAT1	NM_022787.4(NMNAT1):c.716T>C:p.Leu239Ser	coding	Pathogenic
1	9982625	G	A	G9982625A	NMNAT1	NM_022787.4(NMNAT1):c.764G>A:p.Ser255Asn	coding	Benign/Likely_benign
1	9982630	G	A	G9982630A	NMNAT1	NM_022787.4(NMNAT1):c.769G>A:p.Glu257Lys	coding	Pathogenic
1	9982678	A	G	A9982678G	NMNAT1	NM_022787.4(NMNAT1):c.817A>G:p.Asn273Asp	coding	Pathogenic
1	9982699	T	C	T9982699C	NMNAT1	NM_022787.4(NMNAT1):c.838T>C:p.Ter280Gln	coding	Pathogenic
1	10101105	A	C	A10101105C	UBE4B	NM_001105562.3(UBE4B):c.348-3A>C	noncoding	Benign
1	10119504	C	T	C10119504T	UBE4B	NM_001105562.3(UBE4B):c.1339-9C>T	noncoding	Benign
1	10119557	C	T	C10119557T	UBE4B	NM_001105562.3(UBE4B):c.1383C>T:p.Arg461=	coding	Benign
1	10135127	A	G	A10135127G	UBE4B	NM_001105562.3(UBE4B):c.2165A>G:p.Asn722Ser	coding	Benign
1	10179528	C	T	C10179528T	UBE4B	NM_001105562.3(UBE4B):c.3813C>T:p.Asn1271=	coding	Benign
1	10210750	G	C	G10210750C	KIF1B	NM_015074.3(KIF1B):c.-208G>C	noncoding	Benign
1	10210822	C	T	C10210822T	KIF1B	NM_015074.3(KIF1B):c.-136C>T	noncoding	Benign
1	10210879	G	T	G10210879T	KIF1B	NM_015074.3(KIF1B):c.-80+1G>T	noncoding	Benign
1	10256308	C	T	C10256308T	KIF1B	NM_015074.3(KIF1B):c.168C>T:p.Tyr56=	coding	Benign/Likely_benign
1	10258495	C	T	C10258495T	KIF1B	NM_015074.3(KIF1B):c.186C>T:p.Pro62=	coding	Benign
1	10258594	C	G	C10258594G	KIF1B	NM_001365951.3(KIF1B):c.285C>G:p.Ala95=	coding	Benign
1	10258602	A	T	A10258602T	KIF1B	NM_015074.3(KIF1B):c.293A>T:p.Gln98Leu	coding	Pathogenic
1	10258678	A	C	A10258678C	KIF1B	NM_015074.3(KIF1B):c.363+6A>C	noncoding	Benign
1	10268280	C	T	C10268280T	KIF1B	NM_015074.3(KIF1B):c.720+17C>T	noncoding	Benign
1	10278146	C	T	C10278146T	KIF1B	NM_015074.3(KIF1B):c.1162+18C>T	noncoding	Benign
1	10282294	C	T	C10282294T	KIF1B	NM_001365951.3(KIF1B):c.1223-28C>T	noncoding	Benign
1	10282464	G	A	G10282464A	KIF1B	NM_015074.3(KIF1B):c.1227G>A:p.Thr409=	coding	Benign
1	10295773	A	T	A10295773T	KIF1B	NM_015074.3(KIF1B):c.1639+7A>T	noncoding	Benign
1	10295776	C	T	C10295776T	KIF1B	NM_001365951.3(KIF1B):c.1777+10C>T	noncoding	Benign
1	10297018	T	A	T10297018A	KIF1B	NM_001365951.3(KIF1B):c.1983T>A:p.Phe661Leu	coding	Benign
1	10303606	G	T	G10303606T	KIF1B	NM_015074.3(KIF1B):c.1977+6360G>T	coding	Benign
1	10303999	A	G	A10303999G	KIF1B	NM_001365951.3(KIF1B):c.2115+6753A>G	coding	Benign
1	10304202	A	G	A10304202G	KIF1B	NM_015074.3(KIF1B):c.1977+6956A>G	coding	Benign/Likely_benign
1	10304277	T	C	T10304277C	KIF1B	NM_015074.3(KIF1B):c.1977+7031T>C	coding	Benign
1	10321744	T	C	T10321744C	KIF1B	NM_015074.3(KIF1B):c.2107T>C:p.Trp703Arg	coding	Benign/Likely_benign
1	10321829	A	G	A10321829G	KIF1B	NM_015074.3(KIF1B):c.2192A>G:p.Asn731Ser	coding	Benign
1	10326192	C	T	C10326192T	KIF1B	NM_001365951.3(KIF1B):c.2757C>T:p.Asp919=	coding	Benign
1	10326309	C	T	C10326309T	KIF1B	NM_015074.3(KIF1B):c.2736C>T:p.Asp912=	coding	Benign/Likely_benign
1	10334565	C	A	C10334565A	KIF1B	NM_015074.3(KIF1B):c.2832C>A:p.Ile944=	coding	Benign
1	10337212	A	G	A10337212G	KIF1B	NM_015074.3(KIF1B):c.3121+9A>G	noncoding	Benign/Likely_benign
1	10337509	A	G	A10337509G	KIF1B	NM_015074.3(KIF1B):c.3260A>G:p.Tyr1087Cys	coding	Benign
1	10339754	A	T	A10339754T	KIF1B	NM_015074.3(KIF1B):c.3285-15A>T	noncoding	Benign
1	10343234	C	T	C10343234T	KIF1B	NM_015074.3(KIF1B):c.3497C>T:p.Pro1166Leu	coding	Benign/Likely_benign
1	10343244	G	A	G10343244A	KIF1B	NM_015074.3(KIF1B):c.3507G>A:p.Pro1169=	coding	Benign/Likely_benign
1	10347833	A	C	A10347833C	KIF1B	NM_015074.3(KIF1B):c.3726+6A>C	noncoding	Benign/Likely_benign
1	10348669	A	C	A10348669C	KIF1B	NM_015074.3(KIF1B):c.3747A>C:p.Thr1249=	coding	Benign
1	10352742	A	G	A10352742G	KIF1B	NM_015074.3(KIF1B):c.3917+6A>G	noncoding	Benign
1	10360959	T	C	T10360959C	KIF1B	NM_015074.3(KIF1B):c.3948T>C:p.Asp1316=	coding	Benign
1	10361031	G	A	G10361031A	KIF1B	NM_015074.3(KIF1B):c.4020G>A:p.Ser1340=	coding	Benign
1	10361802	C	T	C10361802T	KIF1B	NM_001365951.3(KIF1B):c.4281C>T:p.Ser1427=	coding	Benign
1	10361820	A	G	A10361820G	KIF1B	NM_015074.3(KIF1B):c.4161A>G:p.Pro1387=	coding	Benign
1	10365492	C	T	C10365492T	KIF1B	NM_015074.3(KIF1B):c.4458C>T:p.Pro1486=	coding	Benign
1	10365564	C	T	C10365564T	KIF1B	NM_015074.3(KIF1B):c.4530C>T:p.Ser1510=	coding	Benign/Likely_benign
1	10368447	C	A	C10368447A	KIF1B	NM_001365951.3(KIF1B):c.4753-20C>A	noncoding	Benign
1	10368512	G	A	G10368512A	KIF1B	NM_015074.3(KIF1B):c.4660G>A:p.Val1554Met	coding	Benign
1	10371271	C	T	C10371271T	KIF1B	NM_015074.3(KIF1B):c.4808+9C>T	noncoding	Benign
1	10374389	G	A	G10374389A	KIF1B	NM_015074.3(KIF1B):c.4882G>A:p.Glu1628Lys	coding	Benign/Likely_benign
1	10374845	C	T	C10374845T	KIF1B	NM_001365951.3(KIF1B):c.5097-9C>T	noncoding	Benign/Likely_benign
1	10375007	A	G	A10375007G	KIF1B	NM_015074.3(KIF1B):c.5112A>G:p.Ala1704=	coding	Benign
1	10375266	C	A	C10375266A	KIF1B	NM_001365951.3(KIF1B):c.5301C>A:p.Thr1767=	coding	Benign
1	10376568	C	T	C10376568T	KIF1B	NM_015074.3(KIF1B):c.5294C>T:p.Pro1765Leu	coding	Benign/Likely_benign
1	10376589	T	C	T10376589C	KIF1B	NM_015074.3(KIF1B):c.*2T>C	noncoding	Benign/Likely_benign
1	10376866	C	T	C10376866T	KIF1B	NM_015074.3(KIF1B):c.*279C>T	noncoding	Benign
1	10377299	G	A	G10377299A	KIF1B	NM_015074.3(KIF1B):c.*712G>A	noncoding	Benign
1	10377746	G	A	G10377746A	KIF1B	NM_015074.3(KIF1B):c.*1159G>A	noncoding	Benign
1	10378090	C	T	C10378090T	KIF1B	NM_001365951.3(KIF1B):c.*1503C>T	noncoding	Benign
1	10378573	C	G	C10378573G	KIF1B	NM_015074.3(KIF1B):c.*1986C>G	noncoding	Benign
1	10378599	C	T	C10378599T	KIF1B	NM_015074.3(KIF1B):c.*2012C>T	noncoding	Benign
1	10378629	C	T	C10378629T	KIF1B	NM_015074.3(KIF1B):c.*2042C>T	noncoding	Benign
1	10378834	G	A	G10378834A	KIF1B	NM_015074.3(KIF1B):c.*2247G>A	noncoding	Benign
1	10378908	A	G	A10378908G	KIF1B	NM_015074.3(KIF1B):c.*2321A>G	noncoding	Benign
1	10379248	A	T	A10379248T	KIF1B	NM_015074.3(KIF1B):c.*2661A>T	noncoding	Benign
1	10379285	G	A	G10379285A	KIF1B	NM_015074.3(KIF1B):c.*2698G>A	noncoding	Benign
1	10379319	G	C	G10379319C	KIF1B	NM_001365951.3(KIF1B):c.*2732G>C	noncoding	Benign
1	10379327	C	A	C10379327A	KIF1B	NM_015074.3(KIF1B):c.*2740C>A	noncoding	Benign
1	10379456	C	T	C10379456T	KIF1B	NM_015074.3(KIF1B):c.*2869C>T	noncoding	Benign
1	10379482	G	A	G10379482A	KIF1B	NM_015074.3(KIF1B):c.*2895G>A	noncoding	Benign
1	10379741	A	G	A10379741G	KIF1B	NM_015074.3(KIF1B):c.*3154A>G	noncoding	Benign
1	10379928	C	T	C10379928T	KIF1B	NM_015074.3(KIF1B):c.*3341C>T	noncoding	Benign
1	10380277	C	A	C10380277A	KIF1B	NM_001365951.3(KIF1B):c.*3690C>A	noncoding	Benign
1	10380329	T	C	T10380329C	KIF1B	NM_015074.3(KIF1B):c.*3742T>C	noncoding	Benign
1	10380854	A	G	A10380854G	KIF1B	NM_015074.3(KIF1B):c.*4267A>G	noncoding	Benign
1	10380979	A	G	A10380979G	KIF1B	NM_015074.3(KIF1B):c.*4392A>G	noncoding	Benign
1	10381481	T	C	T10381481C	KIF1B	NM_001365951.3(KIF1B):c.*4894T>C	noncoding	Benign
1	10381545	G	A	G10381545A	KIF1B	NM_015074.3(KIF1B):c.*4958G>A	noncoding	Benign
1	10381606	T	C	T10381606C	KIF1B	NM_015074.3(KIF1B):c.*5019T>C	noncoding	Benign
1	10413142	C	T	C10413142T	PGD	NM_002631.4(PGD):c.735C>T:p.Thr245=	coding	Benign
1	10417384	C	T	C10417384T	PGD	NM_002631.4(PGD):c.984C>T:p.Tyr328=	coding	Benign
1	10461512	C	T	C10461512T	DFFA	NM_004401.3(DFFA):c.974G>A:p.Arg325Gln	coding	Benign
1	10461586	C	T	C10461586T	DFFA	NM_004401.3(DFFA):c.900G>A:p.Thr300=	coding	Benign
1	10463076	T	A	T10463076A	DFFA	NM_004401.3(DFFA):c.765A>T:p.Leu255Phe	coding	Benign
1	10463569	A	G	A10463569G	DFFA	NM_004401.3(DFFA):c.493T>C:p.Cys165Arg	coding	Benign
1	10495315	G	A	G10495315A	PEX14	NM_004565.3(PEX14):c.78G>A:p.Glu26=	coding	Benign
1	10536284	C	T	C10536284T	PEX14	NM_004565.3(PEX14):c.156C>T:p.Phe52=	coding	Benign
1	10599276	T	G	T10599276G	PEX14	NM_004565.3(PEX14):c.208T>G:p.Ser70Ala	coding	Benign
1	10599281	C	G	C10599281G	PEX14	NM_004565.3(PEX14):c.213C>G:p.Gly71=	coding	Benign/Likely_benign
1	10618382	G	T	G10618382T	PEX14	NM_004565.3(PEX14):c.349G>T:p.Ala117Ser	coding	Benign/Likely_benign
1	10618431	A	T	A10618431T	PEX14	NM_004565.3(PEX14):c.384+14A>T	noncoding	Benign
1	10623034	C	G	C10623034G	PEX14	NM_004565.3(PEX14):c.400C>G:p.Leu134Val	coding	Benign/Likely_benign
1	10623109	G	A	G10623109A	PEX14	NM_004565.3(PEX14):c.475G>A:p.Val159Met	coding	Benign
1	10624356	G	A	G10624356A	PEX14	NM_004565.3(PEX14):c.504G>A:p.Thr168=	coding	Benign
1	10624365	C	A	C10624365A	PEX14	NM_004565.3(PEX14):c.513C>A:p.Ala171=	coding	Benign
1	10624405	C	T	C10624405T	PEX14	NM_004565.3(PEX14):c.553C>T:p.Gln185Ter	coding	Pathogenic
1	10629621	G	A	G10629621A	PEX14	NM_004565.3(PEX14):c.768G>A:p.Val256=	coding	Benign/Likely_benign
1	10629726	C	T	C10629726T	PEX14	NM_004565.3(PEX14):c.873C>T:p.His291=	coding	Benign
1	10629812	G	A	G10629812A	PEX14	NM_004565.3(PEX14):c.959G>A:p.Arg320Lys	coding	Benign
1	10629867	C	T	C10629867T	PEX14	NM_004565.3(PEX14):c.1014C>T:p.Asp338=	coding	Benign
1	10629885	G	T	G10629885T	PEX14	NM_004565.3(PEX14):c.1032G>T:p.Gly344=	coding	Benign
1	10642884	G	A	G10642884A	CASZ1	NM_001079843.3(CASZ1):c.4137C>T:p.Pro1379=	coding	Benign
1	10642935	G	A	G10642935A	CASZ1	NM_001079843.3(CASZ1):c.4086C>T:p.Gly1362=	coding	Benign
1	10644911	C	T	C10644911T	CASZ1	NM_001079843.3(CASZ1):c.3868+6G>A	noncoding	Benign
1	10647872	C	T	C10647872T	CASZ1	NM_001079843.3(CASZ1):c.3426G>A:p.Ser1142=	coding	Benign
1	10649129	G	A	G10649129A	CASZ1	NM_001079843.3(CASZ1):c.3099C>T:p.Cys1033=	coding	Benign
1	10649201	A	T	A10649201T	CASZ1	NM_001079843.3(CASZ1):c.3036-9T>A	noncoding	Benign
1	10649354	G	C	G10649354C	CASZ1	NM_001079843.3(CASZ1):c.2964C>G:p.Pro988=	coding	Benign
1	10653593	C	T	C10653593T	CASZ1	NM_001079843.3(CASZ1):c.2464G>A:p.Gly822Ser	coding	Benign
1	10653750	G	A	G10653750A	CASZ1	NM_001079843.3(CASZ1):c.2307C>T:p.Asn769=	coding	Benign
1	10653867	G	C	G10653867C	CASZ1	NM_001079843.3(CASZ1):c.2190C>G:p.Ala730=	coding	Benign
1	10654137	G	A	G10654137A	CASZ1	NM_001079843.3(CASZ1):c.1920C>T:p.Tyr640=	coding	Benign
1	10654164	C	T	C10654164T	CASZ1	NM_001079843.3(CASZ1):c.1893G>A:p.Lys631=	coding	Benign
1	10656685	G	A	G10656685A	CASZ1	NM_001079843.3(CASZ1):c.1461C>T:p.Arg487=	coding	Benign
1	10658498	A	G	A10658498G	CASZ1	NM_001079843.3(CASZ1):c.1409+10T>C	noncoding	Benign
1	10659761	G	A	G10659761A	CASZ1	NM_001079843.3(CASZ1):c.1281C>T:p.Tyr427=	coding	Benign
1	10660076	G	T	G10660076T	CASZ1	NM_001079843.3(CASZ1):c.966C>A:p.Gly322=	coding	Benign
1	10660197	G	A	G10660197A	CASZ1	NM_001079843.3(CASZ1):c.845C>T:p.Thr282Met	coding	Benign
1	10660248	A	G	A10660248G	CASZ1	NM_001079843.3(CASZ1):c.794T>C:p.Val265Ala	coding	Benign
1	10660397	C	T	C10660397T	CASZ1	NM_001079843.3(CASZ1):c.645G>A:p.Pro215=	coding	Benign
1	10665356	G	A	G10665356A	CASZ1	NM_001079843.3(CASZ1):c.232C>T:p.Arg78Cys	coding	Benign
1	10665412	G	A	G10665412A	CASZ1	NM_001079843.3(CASZ1):c.176C>T:p.Ser59Leu	coding	Benign
1	10665530	C	A	C10665530A	CASZ1	NM_001079843.3(CASZ1):c.58G>T:p.Ala20Ser	coding	Benign
1	10948070	C	T	C10948070T	C1orf127	NM_001170754.1(C1orf127):c.2065G>A:p.Gly689Arg	coding	Benign
1	11012634	G	A	G11012634A	TARDBP	NM_007375.3(TARDBP):c.-122G>A	noncoding	Benign
1	11013751	C	T	C11013751T	TARDBP	NM_007375.4(TARDBP):c.24C>T:p.Thr8=	coding	Benign
1	11013925	T	C	T11013925C	TARDBP	NM_007375.3(TARDBP):c.198T>C:p.Ala66=	coding	Benign/Likely_benign
1	11013974	C	T	C11013974T	TARDBP	NM_007375.3(TARDBP):c.238+9C>T	noncoding	Benign
1	11020560	A	G	A11020560G	TARDBP	NM_007375.3(TARDBP):c.675A>G:p.Pro225=	coding	Benign
1	11022196	A	G	A11022196G	TARDBP	NM_007375.3(TARDBP):c.787A>G:p.Lys263Glu	coding	Pathogenic
1	11022209	A	G	A11022209G	TARDBP	NM_007375.3(TARDBP):c.800A>G:p.Asn267Ser	coding	Pathogenic
1	11022290	G	C	G11022290C	TARDBP	NM_007375.3(TARDBP):c.881G>C:p.Gly294Ala	coding	Pathogenic
1	11022290	G	T	G11022290T	TARDBP	NM_007375.3(TARDBP):c.881G>T:p.Gly294Val	coding	Pathogenic
1	11022292	G	A	G11022292A	TARDBP	NM_007375.3(TARDBP):c.883G>A:p.Gly295Ser	coding	Pathogenic
1	11022301	G	A	G11022301A	TARDBP	NM_007375.3(TARDBP):c.892G>A:p.Gly298Ser	coding	Pathogenic
1	11022352	G	A	G11022352A	TARDBP	NM_007375.3(TARDBP):c.943G>A:p.Ala315Thr	coding	Pathogenic
1	11022384	C	T	C11022384T	TARDBP	NM_007375.4(TARDBP):c.975C>T:p.Ala325=	coding	Benign
1	11022400	C	A	C11022400A	TARDBP	NM_007375.3(TARDBP):c.991C>A:p.Gln331Lys	coding	Pathogenic
1	11022418	A	G	A11022418G	TARDBP	NM_007375.3(TARDBP):c.1009A>G:p.Met337Val	coding	Pathogenic
1	11022437	A	G	A11022437G	TARDBP	NM_007375.3(TARDBP):c.1028A>G:p.Gln343Arg	coding	Pathogenic
1	11022444	C	A	C11022444A	TARDBP	NM_007375.3(TARDBP):c.1035C>A:p.Asn345Lys	coding	Pathogenic
1	11022451	G	T	G11022451T	TARDBP	NM_007375.3(TARDBP):c.1042G>T:p.Gly348Cys	coding	Pathogenic/Likely_pathogenic
1	11022452	G	T	G11022452T	TARDBP	NM_007375.3(TARDBP):c.1043G>T:p.Gly348Val	coding	Pathogenic
1	11022464	A	G	A11022464G	TARDBP	NM_007375.3(TARDBP):c.1055A>G:p.Asn352Ser	coding	Pathogenic
1	11022507	C	G	C11022507G	TARDBP	NM_007375.3(TARDBP):c.1098C>G:p.Ala366=	coding	Benign/Likely_benign
1	11022556	A	G	A11022556G	TARDBP	NM_007375.3(TARDBP):c.1147A>G:p.Ile383Val	coding	Pathogenic/Likely_pathogenic
1	11022562	T	G	T11022562G	TARDBP	NM_007375.3(TARDBP):c.1153T>G:p.Trp385Gly	coding	Pathogenic
1	11022727	G	C	G11022727C	TARDBP	NM_007375.4(TARDBP):c.*73G>C	noncoding	Benign
1	11022737	T	C	T11022737C	TARDBP	NM_007375.3(TARDBP):c.*83T>C	noncoding	Pathogenic
1	11022862	G	A	G11022862A	TARDBP	NM_007375.3(TARDBP):c.*208G>A	noncoding	Benign/Likely_benign
1	11022997	G	A	G11022997A	TARDBP	NM_007375.4(TARDBP):c.*343G>A	noncoding	Benign
1	11023735	C	T	C11023735T	TARDBP	NM_007375.3(TARDBP):c.*1081C>T	noncoding	Benign
1	11024985	A	G	A11024985G	MASP2;TARDBP	NM_007375.3(TARDBP):c.*2331A>G	noncoding	Benign/Likely_benign
1	11025394	G	A	G11025394A	TARDBP	NM_007375.3(TARDBP):c.*2740G>A	noncoding	Benign
1	11026660	A	G	A11026660G	MASP2;TARDBP	NM_006610.4(MASP2):c.*225T>C	noncoding	Benign
1	11027215	T	G	T11027215G	MASP2	NM_006610.4(MASP2):c.1731A>C:p.Gln577His	coding	Benign/Likely_benign
1	11027329	A	G	A11027329G	MASP2;TARDBP	NM_006610.4(MASP2):c.1617T>C:p.Asn539=	coding	Benign/Likely_benign
1	11027467	G	A	G11027467A	MASP2;TARDBP	NM_006610.4(MASP2):c.1479C>T:p.Ser493=	coding	Benign
1	11027630	C	T	C11027630T	MASP2	NM_006610.4(MASP2):c.1316G>A:p.Arg439His	coding	Benign/Likely_benign
1	11030840	A	G	A11030840G	MASP2	NM_006610.4(MASP2):c.1130T>C:p.Val377Ala	coding	Benign
1	11030859	C	A	C11030859A	MASP2	NM_006610.4(MASP2):c.1111G>T:p.Asp371Tyr	coding	Benign
1	11037810	C	T	C11037810T	MASP2	NM_006610.4(MASP2):c.891G>A:p.Ala297=	coding	Benign
1	11042882	C	T	C11042882T	MASP2	NM_006610.4(MASP2):c.882G>A:p.Thr294=	coding	Benign
1	11042883	G	A	G11042883A	MASP2	NM_006610.4(MASP2):c.881C>T:p.Thr294Met	coding	Benign
1	11043351	G	A	G11043351A	MASP2	NM_006610.4(MASP2):c.729C>T:p.Tyr243=	coding	Benign
1	11043468	C	T	C11043468T	MASP2	NM_006610.4(MASP2):c.612G>A:p.Pro204=	coding	Benign
1	11043525	G	A	G11043525A	MASP2	NM_006610.4(MASP2):c.555C>T:p.Ser185=	coding	Benign
1	11045482	T	C	T11045482C	MASP2	NM_006610.4(MASP2):c.470A>G:p.His157Arg	coding	Benign
1	11045485	C	T	C11045485T	MASP2	NM_006610.4(MASP2):c.467G>A:p.Cys156Tyr	coding	Benign/Likely_benign
1	11045488	T	C	T11045488C	MASP2	NM_006610.4(MASP2):c.464A>G:p.His155Arg	coding	Benign
1	11046560	G	A	G11046560A	MASP2	NM_006610.4(MASP2):c.408C>T:p.Ala136=	coding	Benign
1	11046591	G	A	G11046591A	MASP2	NM_006610.4(MASP2):c.377C>T:p.Pro126Leu	coding	Benign
1	11046598	C	T	C11046598T	MASP2	NM_006610.4(MASP2):c.370G>A:p.Glu124Lys	coding	Benign
1	11046672	C	T	C11046672T	MASP2	NM_006610.4(MASP2):c.296G>A:p.Arg99Gln	coding	Benign
1	11047065	C	T	C11047065T	MASP2	NM_006610.4(MASP2):c.60G>A:p.Pro20=	coding	Benign
1	11047087	G	A	G11047087A	MASP2	NM_006610.4(MASP2):c.38C>T:p.Ser13Leu	coding	Benign
1	11047092	A	G	A11047092G	MASP2	NM_006610.4(MASP2):c.33T>C:p.Cys11=	coding	Benign
1	11087508	G	A	G11087508A	EXOSC10	NM_001001998.3(EXOSC10):c.1029C>T:p.Leu343=	coding	Benign
1	11108222	T	C	T11108222C	MTOR	NM_004958.4(MTOR):c.7593A>G:p.Gln2531=	coding	Benign
1	11109317	T	A	T11109317A	MTOR	NM_004958.4(MTOR):c.7501A>T:p.Ile2501Phe	coding	Pathogenic
1	11109363	G	A	G11109363A	MTOR	NM_004958.4(MTOR):c.7455C>T:p.Asp2485=	coding	Benign
1	11109732	A	G	A11109732G	MTOR	NM_004958.4(MTOR):c.7367-3T>C	noncoding	Benign
1	11114338	A	G	A11114338G	MTOR	NM_004958.4(MTOR):c.7280T>C:p.Leu2427Pro	coding	Pathogenic
1	11114338	A	T	A11114338T	MTOR	NM_004958.4(MTOR):c.7280T>A:p.Leu2427Gln	coding	Pathogenic
1	11114346	G	A	G11114346A	MTOR	NM_004958.4(MTOR):c.7272C>T:p.Asp2424=	coding	Benign
1	11114363	C	T	C11114363T	MTOR	NM_004958.4(MTOR):c.7255G>A:p.Glu2419Lys	coding	Pathogenic
1	11114370	G	A	G11114370A	MTOR	NM_004958.4(MTOR):c.7248C>T:p.Ala2416=	coding	Benign
1	11114380	C	A	C11114380A	MTOR	NM_004958.4(MTOR):c.7238G>T:p.Ser2413Ile	coding	Pathogenic
1	11114819	A	G	A11114819G	MTOR	NM_004958.4(MTOR):c.7158T>C:p.Ala2386=	coding	Benign
1	11115387	T	C	T11115387C	MTOR	NM_004958.4(MTOR):c.7089+9A>G	noncoding	Benign
1	11121270	C	T	C11121270T	MTOR	NM_004958.4(MTOR):c.6909G>A:p.Leu2303=	coding	Benign
1	11122006	G	A	G11122006A	MTOR	NM_004958.4(MTOR):c.6783C>T:p.Leu2261=	coding	Benign
1	11122114	G	A	G11122114A	MTOR	NM_004958.4(MTOR):c.6675C>T:p.Tyr2225=	coding	Benign
1	11122132	G	A	G11122132A	MTOR	NM_004958.4(MTOR):c.6663-6C>T	noncoding	Benign
1	11124516	G	A	G11124516A	MTOR	NM_004958.4(MTOR):c.6644C>T:p.Ser2215Phe	coding	Pathogenic/Likely_pathogenic
1	11124516	G	T	G11124516T	MTOR	NM_004958.4(MTOR):c.6644C>A:p.Ser2215Tyr	coding	Pathogenic/Likely_pathogenic
1	11124536	A	G	A11124536G	MTOR	NM_004958.4(MTOR):c.6624T>C:p.Leu2208=	coding	Benign
1	11126719	T	C	T11126719C	MTOR	NM_004958.4(MTOR):c.6429A>G:p.Thr2143=	coding	Benign
1	11127103	C	T	C11127103T	MTOR	NM_004958.4(MTOR):c.6258G>A:p.Arg2086=	coding	Benign
1	11127636	T	C	T11127636C	MTOR	NM_004958.4(MTOR):c.6204A>G:p.Thr2068=	coding	Benign
1	11127711	G	A	G11127711A	MTOR	NM_004958.4(MTOR):c.6129C>T:p.Asn2043=	coding	Benign
1	11128001	C	T	C11128001T	MTOR	NM_004958.4(MTOR):c.6033+3G>A	noncoding	Benign
1	11128059	T	C	T11128059C	MTOR	NM_004958.4(MTOR):c.5978A>G:p.Lys1993Arg	coding	Benign
1	11128085	C	T	C11128085T	MTOR	NM_004958.4(MTOR):c.5952G>A:p.Thr1984=	coding	Benign
1	11128107	G	A	G11128107A	MTOR	NM_004958.4(MTOR):c.5930C>T:p.Thr1977Ile	coding	Pathogenic
1	11128849	C	T	C11128849T	MTOR	NM_004958.4(MTOR):c.5811+6G>A	noncoding	Benign
1	11128907	T	C	T11128907C	MTOR	NM_004958.4(MTOR):c.5759A>G:p.Asn1920Ser	coding	Benign
1	11129789	A	C	A11129789C	MTOR	NM_004958.4(MTOR):c.5663T>G:p.Phe1888Cys	coding	Pathogenic/Likely_pathogenic
1	11130533	G	C	G11130533C	MTOR	NM_004958.4(MTOR):c.5609C>G:p.Thr1870Ser	coding	Benign
1	11130538	C	T	C11130538T	MTOR	NM_004958.4(MTOR):c.5604G>A:p.Lys1868=	coding	Benign
1	11130575	G	A	G11130575A	MTOR	NM_004958.4(MTOR):c.5567C>T:p.Thr1856Ile	coding	Benign
1	11130589	G	A	G11130589A	MTOR	NM_004958.4(MTOR):c.5553C>T:p.Ser1851=	coding	Benign
1	11130641	G	A	G11130641A	MTOR	NM_004958.4(MTOR):c.5501C>T:p.Thr1834Met	coding	Benign
1	11130669	T	C	T11130669C	MTOR	NM_004958.4(MTOR):c.5473A>G:p.Ile1825Val	coding	Benign
1	11130673	G	A	G11130673A	MTOR	NM_004958.4(MTOR):c.5469C>T:p.Ala1823=	coding	Benign
1	11130747	C	T	C11130747T	MTOR	NM_004958.4(MTOR):c.5395G>A:p.Glu1799Lys	coding	Pathogenic
1	11133090	C	T	C11133090T	MTOR	NM_004958.4(MTOR):c.5354G>A:p.Ser1785Asn	coding	Benign
1	11134342	G	A	G11134342A	MTOR	NM_004958.4(MTOR):c.5246+9C>T	noncoding	Benign
1	11134343	G	C	G11134343C	MTOR	NM_004958.4(MTOR):c.5246+8C>G	noncoding	Benign
1	11134345	C	A	C11134345A	MTOR	NM_004958.4(MTOR):c.5246+6G>T	noncoding	Benign
1	11134464	G	A	G11134464A	MTOR	NM_004958.4(MTOR):c.5133C>T:p.Ile1711=	coding	Benign
1	11139391	C	T	C11139391T	MTOR	NM_004958.4(MTOR):c.5043G>A:p.Pro1681=	coding	Benign
1	11139591	T	C	T11139591C	MTOR	NM_004958.4(MTOR):c.4940A>G:p.His1647Arg	coding	Benign
1	11144735	C	T	C11144735T	MTOR	NM_004958.4(MTOR):c.4785G>A:p.Met1595Ile	coding	Pathogenic
1	11145001	C	T	C11145001T	MTOR	NM_004958.4(MTOR):c.4731G>A:p.Ala1577=	coding	Benign
1	11146801	C	T	C11146801T	MTOR	NM_004958.4(MTOR):c.4571-10G>A	noncoding	Benign
1	11150174	T	A	T11150174A	MTOR	NM_004958.4(MTOR):c.4522A>T:p.Thr1508Ser	coding	Benign
1	11157173	C	A	C11157173A	MTOR	NM_004958.4(MTOR):c.4448G>T:p.Cys1483Phe	coding	Pathogenic
1	11157173	C	T	C11157173T	MTOR	NM_004958.4(MTOR):c.4448G>A:p.Cys1483Tyr	coding	Pathogenic/Likely_pathogenic
1	11157174	A	G	A11157174G	MTOR	NM_004958.4(MTOR):c.4447T>C:p.Cys1483Arg	coding	Pathogenic/Likely_pathogenic
1	11157205	G	A	G11157205A	MTOR	NM_004958.4(MTOR):c.4416C>T:p.Asp1472=	coding	Benign
1	11157242	A	G	A11157242G	MTOR	NM_004958.4(MTOR):c.4379T>C:p.Leu1460Pro	coding	Pathogenic/Likely_pathogenic
1	11157255	A	C	A11157255C	MTOR	NM_004958.4(MTOR):c.4366T>G:p.Trp1456Gly	coding	Pathogenic
1	11167511	A	G	A11167511G	MTOR	NM_004958.4(MTOR):c.4260T>C:p.Asn1420=	coding	Benign
1	11199598	G	A	G11199598A	MTOR	NM_004958.4(MTOR):c.4050C>T:p.Ile1350=	coding	Benign
1	11204707	T	C	T11204707C	MTOR	NM_004958.4(MTOR):c.3802-4A>G	noncoding	Benign
1	11209305	G	C	G11209305C	MTOR	NM_004958.4(MTOR):c.3801+7C>G	noncoding	Benign
1	11209322	T	C	T11209322C	MTOR	NM_004958.4(MTOR):c.3791A>G:p.Asn1264Ser	coding	Benign
1	11210838	A	G	A11210838G	MTOR	NM_004958.4(MTOR):c.3630T>C:p.Asp1210=	coding	Benign
1	11210840	C	T	C11210840T	MTOR	NM_004958.4(MTOR):c.3628G>A:p.Asp1210Asn	coding	Benign
1	11212392	G	C	G11212392C	MTOR	NM_004958.4(MTOR):c.3481C>G:p.Arg1161Gly	coding	Benign
1	11212398	T	C	T11212398C	MTOR	NM_004958.4(MTOR):c.3475A>G:p.Ile1159Val	coding	Benign
1	11212411	C	G	C11212411G	MTOR	NM_004958.4(MTOR):c.3462G>C:p.Arg1154=	coding	Benign
1	11212472	G	A	G11212472A	MTOR	NM_004958.4(MTOR):c.3401C>T:p.Ala1134Val	coding	Benign
1	11213531	C	T	C11213531T	MTOR	NM_004958.4(MTOR):c.3153G>A:p.Thr1051=	coding	Benign
1	11213542	T	C	T11213542C	MTOR	NM_004958.4(MTOR):c.3142A>G:p.Ile1048Val	coding	Benign
1	11228672	C	T	C11228672T	MTOR	NM_004958.4(MTOR):c.3026G>A:p.Arg1009Gln	coding	Pathogenic
1	11228710	C	G	C11228710G	MTOR	NM_004958.4(MTOR):c.2988G>C:p.Thr996=	coding	Benign
1	11228844	T	C	T11228844C	MTOR	NM_004958.4(MTOR):c.2854A>G:p.Met952Val	coding	Benign
1	11228893	C	T	C11228893T	MTOR	NM_004958.4(MTOR):c.2805G>A:p.Leu935=	coding	Benign
1	11231291	G	A	G11231291A	MTOR	NM_004958.4(MTOR):c.2649+9C>T	noncoding	Benign
1	11232478	G	A	G11232478A	MTOR	NM_004958.4(MTOR):c.2472C>T:p.Ile824=	coding	Benign
1	11233407	T	C	T11233407C	MTOR	NM_004958.4(MTOR):c.2412A>G:p.Glu804=	coding	Benign
1	11234173	G	A	G11234173A	MTOR	NM_004958.4(MTOR):c.2301C>T:p.Leu767=	coding	Benign
1	11234242	A	G	A11234242G	MTOR	NM_004958.4(MTOR):c.2232T>C:p.Ser744=	coding	Benign
1	11237890	T	A	T11237890A	MTOR	NM_004958.4(MTOR):c.2161A>T:p.Met721Leu	coding	Benign
1	11237981	C	T	C11237981T	MTOR	NM_004958.4(MTOR):c.2070G>A:p.Ala690=	coding	Benign
1	11238477	C	T	C11238477T	MTOR	NM_004958.4(MTOR):c.1927G>A:p.Val643Met	coding	Benign
1	11238517	C	T	C11238517T	MTOR	NM_004958.4(MTOR):c.1887G>A:p.Leu629=	coding	Benign
1	11238526	G	A	G11238526A	MTOR	NM_004958.4(MTOR):c.1878C>T:p.Cys626=	coding	Benign
1	11238574	G	A	G11238574A	MTOR	NM_004958.4(MTOR):c.1830C>T:p.Phe610=	coding	Benign
1	11240460	C	T	C11240460T	MTOR	NM_004958.4(MTOR):c.1629G>A:p.Leu543=	coding	Benign
1	11240475	C	G	C11240475G	MTOR	NM_004958.4(MTOR):c.1614G>C:p.Gly538=	coding	Benign
1	11240523	G	A	G11240523A	MTOR	NM_004958.4(MTOR):c.1566C>T:p.Tyr522=	coding	Benign
1	11241657	A	G	A11241657G	MTOR	NM_004958.4(MTOR):c.1437T>C:p.Asp479=	coding	Benign
1	11243144	G	A	G11243144A	MTOR	NM_004958.4(MTOR):c.1382C>T:p.Ala461Val	coding	Benign
1	11247702	C	T	C11247702T	MTOR	NM_004958.4(MTOR):c.1148G>A:p.Ser383Asn	coding	Benign
1	11248017	G	A	G11248017A	MTOR	NM_004958.4(MTOR):c.918C>T:p.Phe306=	coding	Benign
1	11256034	G	C	G11256034C	MTOR	NM_004958.4(MTOR):c.663C>G:p.Thr221=	coding	Benign
1	11256187	C	G	C11256187G	MTOR	NM_004958.4(MTOR):c.510G>C:p.Leu170=	coding	Benign
1	11257014	G	A	G11257014A	MTOR	NM_004958.4(MTOR):c.423C>T:p.Thr141=	coding	Benign
1	11257042	C	T	C11257042T	MTOR	NM_004958.4(MTOR):c.395G>A:p.Arg132His	coding	Benign
1	11257089	G	A	G11257089A	MTOR	NM_004958.4(MTOR):c.348C>T:p.Pro116=	coding	Benign
1	11258601	A	G	A11258601G	MTOR	NM_004958.4(MTOR):c.163-8T>C	noncoding	Benign
1	11259298	C	T	C11259298T	MTOR	NM_004958.4(MTOR):c.112G>A:p.Ala38Thr	coding	Benign
1	11273337	G	A	G11273337A	UBIAD1	NM_013319.2(UBIAD1):c.-195G>A	noncoding	Benign
1	11273485	T	G	T11273485G	UBIAD1	NM_013319.2(UBIAD1):c.-47T>G	noncoding	Benign
1	11273755	C	T	C11273755T	UBIAD1	NM_013319.2(UBIAD1):c.224C>T:p.Ser75Phe	coding	Benign
1	11273829	T	G	T11273829G	UBIAD1	NM_013319.2(UBIAD1):c.298T>G:p.Leu100Val	coding	Benign
1	11273836	A	G	A11273836G	UBIAD1	NM_013319.2(UBIAD1):c.305A>G:p.Asn102Ser	coding	Pathogenic
1	11273866	A	G	A11273866G	UBIAD1	NM_013319.2(UBIAD1):c.335A>G:p.Asp112Gly	coding	Pathogenic
1	11273886	A	G	A11273886G	UBIAD1	NM_013319.2(UBIAD1):c.355A>G:p.Arg119Gly	coding	Pathogenic
1	11273901	C	A	C11273901A	UBIAD1	NM_013319.2(UBIAD1):c.370C>A:p.Arg124=	coding	Benign
1	11273948	C	T	C11273948T	UBIAD1	NM_013319.2(UBIAD1):c.417C>T:p.Tyr139=	coding	Benign
1	11273983	A	G	A11273983G	UBIAD1	NM_013319.2(UBIAD1):c.452A>G:p.Tyr151Cys	coding	Benign
1	11274042	T	C	T11274042C	UBIAD1	NM_013319.2(UBIAD1):c.511T>C:p.Ser171Pro	coding	Pathogenic
1	11274055	C	T	C11274055T	UBIAD1	NM_013319.2(UBIAD1):c.524C>T:p.Thr175Ile	coding	Pathogenic
1	11274060	G	C	G11274060C	UBIAD1	NM_013319.2(UBIAD1):c.529G>C:p.Gly177Arg	coding	Pathogenic
1	11285644	G	A	G11285644A	UBIAD1	NM_001330350.1(UBIAD1):c.530-9229G>A	coding	Pathogenic
1	11285670	G	A	G11285670A	UBIAD1	NM_001330350.1(UBIAD1):c.530-9203G>A	coding	Pathogenic
1	11285809	A	G	A11285809G	UBIAD1	NM_001330349.1(UBIAD1):c.618+77A>G	coding	Pathogenic
1	11285822	C	G	C11285822G	UBIAD1	NM_001330349.1(UBIAD1):c.618+90C>G	coding	Pathogenic
1	11285951	C	T	C11285951T	UBIAD1	NM_013319.2(UBIAD1):c.837C>T:p.Cys279=	coding	Benign
1	11285981	C	T	C11285981T	UBIAD1	NM_013319.2(UBIAD1):c.867C>T:p.Thr289=	coding	Benign
1	11286149	C	T	C11286149T	UBIAD1	NM_013319.2(UBIAD1):c.*18C>T	noncoding	Benign
1	11286179	A	G	A11286179G	UBIAD1	NM_013319.3(UBIAD1):c.*48A>G	noncoding	Benign
1	11286279	A	G	A11286279G	UBIAD1	NM_013319.2(UBIAD1):c.*148A>G	noncoding	Benign
1	11286551	C	T	C11286551T	UBIAD1	NM_013319.2(UBIAD1):c.*420C>T	noncoding	Benign
1	11286598	G	A	G11286598A	UBIAD1	NM_013319.3(UBIAD1):c.*467G>A	noncoding	Benign
1	11286683	G	A	G11286683A	UBIAD1	NM_013319.2(UBIAD1):c.*552G>A	noncoding	Benign
1	11286815	C	A	C11286815A	UBIAD1	NM_013319.2(UBIAD1):c.*684C>A	noncoding	Benign
1	11286950	G	A	G11286950A	UBIAD1	NM_013319.2(UBIAD1):c.*819G>A	noncoding	Benign
1	11287035	T	C	T11287035C	UBIAD1	NM_013319.2(UBIAD1):c.*904T>C	noncoding	Benign
1	11287191	G	A	G11287191A	UBIAD1	NM_013319.2(UBIAD1):c.*1060G>A	noncoding	Benign
1	11287435	C	T	C11287435T	UBIAD1	NM_013319.2(UBIAD1):c.*1304C>T	noncoding	Benign
1	11287695	C	T	C11287695T	UBIAD1	NM_013319.2(UBIAD1):c.*1564C>T	noncoding	Benign
1	11287802	G	A	G11287802A	UBIAD1	NM_013319.2(UBIAD1):c.*1671G>A	noncoding	Benign
1	11501143	C	G	C11501143G	DISP3	NM_020780.2(DISP3):c.151C>G:p.Leu51Val	coding	Benign
1	11501635	G	T	G11501635T	DISP3	NM_020780.2(DISP3):c.643G>T:p.Ala215Ser	coding	Benign
1	11516149	C	T	C11516149T	DISP3	NM_020780.2(DISP3):c.1737C>T:p.Asn579=	coding	Benign
1	11524052	C	G	C11524052G	DISP3	NM_020780.2(DISP3):c.2473C>G:p.Gln825Glu	coding	Benign
1	11525172	G	A	G11525172A	DISP3	NM_020780.2(DISP3):c.2477-4G>A	noncoding	Benign
1	11535515	C	T	C11535515T	DISP3	NM_020780.2(DISP3):c.3687C>T:p.Ser1229=	coding	Benign
1	11671308	G	A	G11671308A	FBXO6	NM_018438.6(FBXO6):c.329G>A:p.Arg110His	coding	Benign
1	11674805	G	A	G11674805A	MAD2L2	NM_006341.4(MAD2L2):c.606C>T:p.Tyr202=	coding	Benign
1	11675094	C	T	C11675094T	MAD2L2	NM_006341.4(MAD2L2):c.582G>A:p.Ser194=	coding	Benign
1	11675097	C	T	C11675097T	MAD2L2	NM_006341.4(MAD2L2):c.579G>A:p.Thr193=	coding	Benign
1	11676074	G	A	G11676074A	MAD2L2	NM_006341.4(MAD2L2):c.399C>T:p.Cys133=	coding	Benign
1	11676926	A	T	A11676926T	MAD2L2	NM_006341.4(MAD2L2):c.254T>A:p.Val85Glu	coding	Pathogenic
1	11676953	A	G	A11676953G	MAD2L2	NM_006341.4(MAD2L2):c.232-5T>C	noncoding	Benign
1	11680478	G	T	G11680478T	MAD2L2	NM_006341.4(MAD2L2):c.41-7C>A	noncoding	Benign
1	11706450	G	A	G11706450A	DRAXIN	NM_198545.4(DRAXIN):c.192G>A:p.Lys64=	coding	Benign
1	11711872	G	A	G11711872A	DRAXIN	NM_198545.4(DRAXIN):c.664G>A:p.Gly222Arg	coding	Benign
1	11790682	A	G	A11790682G	MTHFR	NM_005957.4(MTHFR):c.1969T>C:p.Ter657Arg	coding	Pathogenic
1	11790692	C	T	C11790692T	MTHFR	NM_005957.4(MTHFR):c.1959G>A:p.Thr653=	coding	Benign/Likely_benign
1	11790693	G	A	G11790693A	MTHFR	NM_005957.4(MTHFR):c.1958C>T:p.Thr653Met	coding	Benign
1	11790710	G	T	G11790710T	MTHFR	NM_005957.5(MTHFR):c.1941C>A:p.Thr647=	coding	Benign
1	11790719	G	T	G11790719T	MTHFR	NM_005957.4(MTHFR):c.1932C>A:p.Asn644Lys	coding	Benign
1	11790768	A	G	A11790768G	MTHFR	NM_005957.4(MTHFR):c.1883T>C:p.Leu628Pro	coding	Pathogenic
1	11790843	G	C	G11790843C	MTHFR	NM_005957.4(MTHFR):c.1808C>G:p.Ser603Cys	coding	Pathogenic
1	11790858	A	G	A11790858G	MTHFR	NM_005957.4(MTHFR):c.1793T>C:p.Leu598Pro	coding	Pathogenic
1	11790916	C	T	C11790916T	MTHFR	NM_005957.4(MTHFR):c.1753-18G>A	noncoding	Pathogenic
1	11791206	C	A	C11791206A	MTHFR	NM_005957.4(MTHFR):c.1752+1G>T	noncoding	Pathogenic
1	11791216	C	T	C11791216T	MTHFR	NM_005957.4(MTHFR):c.1743G>A:p.Met581Ile	coding	Pathogenic
1	11791235	A	C	A11791235C	MTHFR	NM_005957.4(MTHFR):c.1724T>G:p.Val575Gly	coding	Pathogenic
1	11791260	G	A	G11791260A	MTHFR	NM_005957.4(MTHFR):c.1699C>T:p.Arg567Ter	coding	Pathogenic
1	11792276	A	C	A11792276C	MTHFR	NM_005957.4(MTHFR):c.1632+2T>G	noncoding	Pathogenic
1	11792284	A	G	A11792284G	MTHFR	NM_005957.5(MTHFR):c.1626T>C:p.Asn542=	coding	Benign
1	11792304	C	A	C11792304A	MTHFR	NM_005957.4(MTHFR):c.1606G>T:p.Val536Phe	coding	Pathogenic
1	11792355	G	A	G11792355A	MTHFR	NM_005957.5(MTHFR):c.1555C>T:p.Arg519Cys	coding	Benign
1	11793905	A	G	A11793905G	MTHFR	NM_005957.4(MTHFR):c.1530+2T>C	noncoding	Pathogenic
1	11793907	C	T	C11793907T	MTHFR	NM_005957.4(MTHFR):c.1530G>A:p.Lys510=	coding	Pathogenic
1	11793920	T	C	T11793920C	MTHFR	NM_005957.5(MTHFR):c.1517A>G:p.Tyr506Cys	coding	Pathogenic
1	11793921	A	C	A11793921C	MTHFR	NM_005957.4(MTHFR):c.1516T>G:p.Tyr506Asp	coding	Pathogenic
1	11793961	C	T	C11793961T	MTHFR	NM_005957.4(MTHFR):c.1476G>A:p.Pro492=	coding	Benign
1	11794029	C	A	C11794029A	MTHFR	NM_005957.4(MTHFR):c.1408G>T:p.Glu470Ter	coding	Pathogenic
1	11794385	C	T	C11794385T	MTHFR	NM_005957.4(MTHFR):c.1320G>A:p.Ser440=	coding	Pathogenic
1	11794400	G	A	G11794400A	MTHFR	NM_005957.4(MTHFR):c.1305C>T:p.Phe435=	coding	Benign
1	11794441	C	T	C11794441T	MTHFR	NM_005957.5(MTHFR):c.1264G>A:p.Gly422Arg	coding	Benign
1	11794781	T	C	T11794781C	MTHFR	NM_005957.4(MTHFR):c.1114A>G:p.Lys372Glu	coding	Pathogenic
1	11794807	C	T	C11794807T	MTHFR	NM_005957.4(MTHFR):c.1088G>A:p.Arg363His	coding	Pathogenic
1	11794823	G	A	G11794823A	MTHFR	NM_005957.4(MTHFR):c.1072C>T:p.Arg358Ter	coding	Pathogenic
1	11794835	G	A	G11794835A	MTHFR	NM_005957.4(MTHFR):c.1060C>T:p.His354Tyr	coding	Pathogenic
1	11794839	G	A	G11794839A	MTHFR	NM_005957.4(MTHFR):c.1056C>T:p.Ser352=	coding	Benign
1	11794853	G	A	G11794853A	MTHFR	NM_005957.4(MTHFR):c.1042C>T:p.Pro348Ser	coding	Pathogenic
1	11794862	G	A	G11794862A	MTHFR	NM_005957.4(MTHFR):c.1033C>T:p.Arg345Cys	coding	Pathogenic
1	11795114	A	C	A11795114C	MTHFR	NM_005957.4(MTHFR):c.1015T>G:p.Trp339Gly	coding	Pathogenic
1	11795116	A	G	A11795116G	MTHFR	NM_005957.4(MTHFR):c.1013T>C:p.Met338Thr	coding	Pathogenic
1	11795125	C	T	C11795125T	MTHFR	NM_005957.4(MTHFR):c.1004G>A:p.Arg335His	coding	Pathogenic
1	11795158	T	C	T11795158C	MTHFR	NM_005957.4(MTHFR):c.971A>G:p.Asn324Ser	coding	Pathogenic
1	11795161	A	G	A11795161G	MTHFR	NM_005957.4(MTHFR):c.968T>C:p.Leu323Pro	coding	Pathogenic
1	11796205	C	A	C11796205A	MTHFR	NM_005957.4(MTHFR):c.780+1G>T	noncoding	Pathogenic
1	11796217	A	C	A11796217C	MTHFR	NM_005957.4(MTHFR):c.769T>G:p.Phe257Val	coding	Pathogenic
1	11796219	A	T	A11796219T	MTHFR	NM_005957.4(MTHFR):c.767T>A:p.Ile256Asn	coding	Pathogenic
1	11796222	C	A	C11796222A	MTHFR	NM_005957.4(MTHFR):c.764G>T:p.Gly255Val	coding	Pathogenic
1	11796226	G	A	G11796226A	MTHFR	NM_005957.4(MTHFR):c.760C>T:p.Pro254Ser	coding	Pathogenic
1	11796254	G	A	G11796254A	MTHFR	NM_005957.5(MTHFR):c.732C>T:p.Thr244=	coding	Benign
1	11796260	T	C	T11796260C	MTHFR	NM_005957.5(MTHFR):c.726A>G:p.Ala242=	coding	Benign
1	11796306	G	A	G11796306A	MTHFR	NM_005957.5(MTHFR):c.680C>T:p.Thr227Met	coding	Pathogenic
1	11796313	T	G	T11796313G	MTHFR	NM_005957.4(MTHFR):c.673A>C:p.Ile225Leu	coding	Pathogenic
1	11796382	G	T	G11796382T	MTHFR	NM_005957.4(MTHFR):c.604C>A:p.Pro202Thr	coding	Pathogenic
1	11796399	C	T	C11796399T	MTHFR	NM_005957.4(MTHFR):c.587G>A:p.Gly196Asp	coding	Pathogenic
1	11800251	G	A	G11800251A	MTHFR	NM_005957.4(MTHFR):c.547C>T:p.Arg183Ter	coding	Pathogenic
1	11801160	C	A	C11801160A	MTHFR	NM_005957.5(MTHFR):c.475+1G>T	noncoding	Pathogenic
1	11801166	C	T	C11801166T	MTHFR	NM_005957.4(MTHFR):c.470G>A:p.Arg157Gln	coding	Pathogenic
1	11801196	T	G	T11801196G	MTHFR	NM_005957.4(MTHFR):c.440A>C:p.Gln147Pro	coding	Pathogenic
1	11801219	C	T	C11801219T	MTHFR	NM_005957.4(MTHFR):c.417G>A:p.Thr139=	coding	Benign
1	11801220	G	A	G11801220A	MTHFR	NM_005957.4(MTHFR):c.416C>T:p.Thr139Met	coding	Pathogenic
1	11801248	A	G	A11801248G	MTHFR	NM_005957.4(MTHFR):c.388T>C:p.Cys130Arg	coding	Pathogenic
1	11801360	G	A	G11801360A	MTHFR	NM_005957.4(MTHFR):c.276C>T:p.Asp92=	coding	Benign
1	11801392	G	A	G11801392A	MTHFR	NM_005957.4(MTHFR):c.244C>T:p.Arg82Trp	coding	Pathogenic
1	11802880	C	T	C11802880T	MTHFR	NM_005957.4(MTHFR):c.236+1G>A	noncoding	Pathogenic
1	11802884	G	C	G11802884C	MTHFR	NM_005957.5(MTHFR):c.233C>G:p.Ser78Ter	coding	Pathogenic
1	11802915	G	C	G11802915C	MTHFR	NM_005957.4(MTHFR):c.202C>G:p.Arg68Gly	coding	Pathogenic
1	11802941	C	G	C11802941G	MTHFR	NM_005957.4(MTHFR):c.176G>C:p.Trp59Ser	coding	Pathogenic
1	11802962	C	T	C11802962T	MTHFR	NM_005957.4(MTHFR):c.155G>A:p.Arg52Gln	coding	Pathogenic
1	11802963	G	A	G11802963A	MTHFR	NM_001330358.1(MTHFR):c.277C>T:p.Arg93Ter	coding	Pathogenic
1	11802980	C	T	C11802980T	MTHFR	NM_005957.4(MTHFR):c.137G>A:p.Arg46Gln	coding	Pathogenic
1	11803000	G	A	G11803000A	MTHFR	NM_005957.4(MTHFR):c.117C>T:p.Pro39=	coding	Benign
1	11807123	T	G	T11807123G	CLCN6	NM_001286.4(CLCN6):c.88-8T>G	noncoding	Benign
1	11823757	C	T	C11823757T	CLCN6	NM_001286.4(CLCN6):c.504C>T:p.Gly168=	coding	Benign
1	11824529	G	A	G11824529A	CLCN6	NM_001286.4(CLCN6):c.624G>A:p.Ser208=	coding	Benign
1	11846011	A	G	A11846011G	NPPA	NM_006172.4(NPPA):c.454T>C:p.Ter152Arg	coding	Benign
1	11847114	C	T	C11847114T	NPPA	NM_006172.4(NPPA):c.449G>A:p.Arg150Gln	coding	Pathogenic
1	11847291	T	C	T11847291C	NPPA	NM_006172.4(NPPA):c.272A>G:p.Gln91Arg	coding	Benign/Likely_benign
1	11847546	G	A	G11847546A	NPPA	NM_006172.4(NPPA):c.123+16C>T	coding	Benign
1	11847602	A	G	A11847602G	NPPA	NM_006172.4(NPPA):c.83T>C:p.Met28Thr	coding	Benign/Likely_benign
1	11858204	G	T	G11858204T	NPPB	NM_002521.3(NPPB):c.388+10C>A	noncoding	Benign
1	11858322	C	A	C11858322A	NPPB	NM_002521.3(NPPB):c.280G>T:p.Val94Phe	coding	Benign
1	11858365	G	A	G11858365A	NPPB	NM_002521.3(NPPB):c.237C>T:p.Ser79=	coding	Benign
1	11858387	C	T	C11858387T	NPPB	NM_002521.3(NPPB):c.215G>A:p.Arg72His	coding	Benign
1	11858760	C	A	C11858760A	NPPB	NM_002521.3(NPPB):c.74G>T:p.Arg25Leu	coding	Benign
1	11858780	A	G	A11858780G	NPPB	NM_002521.3(NPPB):c.54T>C:p.His18=	coding	Benign
1	11934872	C	T	C11934872T	PLOD1	NM_000302.4(PLOD1):c.76+17C>T	noncoding	Benign/Likely_benign
1	11935119	A	G	A11935119G	PLOD1	NM_000302.4(PLOD1):c.76+264A>G	noncoding	Benign
1	11944569	C	T	C11944569T	PLOD1;LOC112577486	NM_000302.4(PLOD1):c.77-3407C>T	coding	Benign
1	11948065	C	T	C11948065T	PLOD1	NM_000302.4(PLOD1):c.166C>T:p.Gln56Ter	coding	Pathogenic
1	11948146	C	T	C11948146T	PLOD1	NM_000302.4(PLOD1):c.168+79C>T	noncoding	Benign
1	11949677	C	T	C11949677T	PLOD1	NM_000302.4(PLOD1):c.169-96C>T	noncoding	Benign
1	11949720	C	G	C11949720G	PLOD1	NM_000302.4(PLOD1):c.169-53C>G	noncoding	Benign
1	11949781	C	T	C11949781T	PLOD1	NM_000302.4(PLOD1):c.177C>T:p.Gly59=	coding	Benign
1	11949854	G	A	G11949854A	PLOD1	NM_000302.4(PLOD1):c.250G>A:p.Ala84Thr	coding	Benign
1	11949898	C	T	C11949898T	PLOD1	NM_000302.4(PLOD1):c.294C>T:p.Phe98=	coding	Benign
1	11949899	G	A	G11949899A	PLOD1	NM_000302.4(PLOD1):c.295G>A:p.Ala99Thr	coding	Benign
1	11949921	G	A	G11949921A	PLOD1	NM_000302.4(PLOD1):c.302+15G>A	noncoding	Benign/Likely_benign
1	11949989	G	A	G11949989A	PLOD1	NM_000302.4(PLOD1):c.302+83G>A	noncoding	Benign
1	11950412	G	T	G11950412T	PLOD1	NM_000302.4(PLOD1):c.358G>T:p.Ala120Ser	coding	Benign
1	11952352	A	G	A11952352G	PLOD1	NM_000302.4(PLOD1):c.467-271A>G	noncoding	Benign
1	11952665	A	T	A11952665T	PLOD1	NM_000302.4(PLOD1):c.509A>T:p.Glu170Val	coding	Benign/Likely_benign
1	11952696	G	A	G11952696A	PLOD1	NM_000302.4(PLOD1):c.540G>A:p.Gln180=	coding	Benign/Likely_benign
1	11952711	G	T	G11952711T	PLOD1	NM_000302.4(PLOD1):c.555G>T:p.Lys185Asn	coding	Benign/Likely_benign
1	11952720	G	C	G11952720C	PLOD1	NM_000302.4(PLOD1):c.564G>C:p.Leu188Phe	coding	Benign/Likely_benign
1	11952736	G	A	G11952736A	PLOD1	NM_000302.4(PLOD1):c.579+1G>A	coding	Pathogenic
1	11953009	G	A	G11953009A	PLOD1	NM_000302.4(PLOD1):c.579+274G>A	noncoding	Benign
1	11954833	C	T	C11954833T	PLOD1	NM_000302.4(PLOD1):c.583C>T:p.Gln195Ter	coding	Pathogenic
1	11956900	T	G	T11956900G	PLOD1	NM_000302.4(PLOD1):c.644-17T>G	noncoding	Benign
1	11957902	A	G	A11957902G	PLOD1	NM_000302.4(PLOD1):c.802A>G:p.Thr268Ala	coding	Benign
1	11958233	T	C	T11958233C	PLOD1	NM_000302.4(PLOD1):c.844-283T>C	noncoding	Benign
1	11958627	C	T	C11958627T	PLOD1	NM_000302.4(PLOD1):c.955C>T:p.Arg319Ter	coding	Pathogenic
1	11958660	C	T	C11958660T	PLOD1	NM_000302.4(PLOD1):c.975+13C>T	noncoding	Benign/Likely_benign
1	11960355	A	G	A11960355G	PLOD1	NM_000302.4(PLOD1):c.976-291A>G	noncoding	Benign
1	11960384	G	A	G11960384A	PLOD1	NM_000302.4(PLOD1):c.976-262G>A	noncoding	Benign
1	11960630	C	T	C11960630T	PLOD1	NM_000302.4(PLOD1):c.976-16C>T	noncoding	Benign/Likely_benign
1	11960649	C	T	C11960649T	PLOD1	NM_000302.4(PLOD1):c.979C>T:p.Gln327Ter	coding	Pathogenic
1	11960685	C	T	C11960685T	PLOD1	NM_000302.4(PLOD1):c.1015C>T:p.Gln339Ter	coding	Pathogenic
1	11960768	G	A	G11960768A	PLOD1	NM_000302.4(PLOD1):c.1097+1G>A	coding	Pathogenic
1	11960987	T	C	T11960987C	PLOD1	NM_000302.4(PLOD1):c.1097+220T>C	noncoding	Benign
1	11963575	G	A	G11963575A	PLOD1	NM_000302.4(PLOD1):c.1141G>A:p.Val381Met	coding	Benign/Likely_benign
1	11963598	C	T	C11963598T	PLOD1	NM_000302.4(PLOD1):c.1164C>T:p.Thr388=	coding	Benign/Likely_benign
1	11964178	C	T	C11964178T	PLOD1	NM_000302.4(PLOD1):c.1206C>T:p.Asn402=	coding	Benign
1	11964550	T	A	T11964550A	PLOD1	NM_000302.4(PLOD1):c.1329-94T>A	noncoding	Benign
1	11964624	G	A	G11964624A	PLOD1	NM_000302.4(PLOD1):c.1329-20G>A	noncoding	Benign
1	11964787	T	C	T11964787C	PLOD1	NM_000302.4(PLOD1):c.1470+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	11964866	T	C	T11964866C	PLOD1	NM_000302.4(PLOD1):c.1470+81T>C	noncoding	Benign
1	11965504	C	T	C11965504T	PLOD1	NM_000302.4(PLOD1):c.1495C>T:p.Arg499Trp	coding	Benign/Likely_benign
1	11965542	C	G	C11965542G	PLOD1	NM_000302.4(PLOD1):c.1533C>G:p.Tyr511Ter	coding	Pathogenic
1	11965571	G	A	G11965571A	PLOD1	NM_000302.4(PLOD1):c.1562G>A:p.Trp521Ter	coding	Pathogenic
1	11966298	A	C	A11966298C	PLOD1	NM_000302.4(PLOD1):c.1632A>C:p.Ala544=	coding	Benign
1	11966985	A	C	A11966985C	PLOD1	NM_000302.4(PLOD1):c.1651-2A>C	noncoding	Pathogenic
1	11966985	A	G	A11966985G	PLOD1	NM_000302.4(PLOD1):c.1651-2A>G	noncoding	Pathogenic
1	11970702	G	T	G11970702T	PLOD1	NM_000302.4(PLOD1):c.1788G>T:p.Val596=	coding	Benign
1	11970750	G	C	G11970750C	PLOD1	NM_000302.4(PLOD1):c.1836G>C:p.Trp612Cys	coding	Pathogenic
1	11972875	C	T	C11972875T	PLOD1	NM_000302.4(PLOD1):c.1906C>T:p.Gln636Ter	coding	Pathogenic
1	11973005	G	T	G11973005T	PLOD1	NM_000302.4(PLOD1):c.2028+8G>T	noncoding	Benign
1	11974748	T	C	T11974748C	PLOD1	NM_000302.4(PLOD1):c.2124T>C:p.His708=	coding	Benign
1	11974757	C	G	C11974757G	PLOD1	NM_000302.4(PLOD1):c.2133C>G:p.Leu711=	coding	Benign
1	11974879	C	G	C11974879G	PLOD1	NM_000302.4(PLOD1):c.*71C>G	noncoding	Benign
1	11975422	G	T	G11975422T	PLOD1	NM_000302.4(PLOD1):c.*614G>T	noncoding	Benign
1	11980267	A	G	A11980267G	PLOD1;MFN2	NM_014874.3(MFN2):c.-367A>G	noncoding	Benign
1	11980347	C	T	C11980347T	MFN2	NM_014874.3(MFN2):c.-287C>T	noncoding	Benign/Likely_benign
1	11980385	T	A	T11980385A	MFN2	NM_014874.3(MFN2):c.-249T>A	noncoding	Benign/Likely_benign
1	11980422	T	C	T11980422C	PLOD1;MFN2	NM_014874.3(MFN2):c.-212T>C	noncoding	Benign
1	11980473	G	A	G11980473A	MFN2	NM_014874.3(MFN2):c.-161G>A	noncoding	Benign/Likely_benign
1	11981955	T	G	T11981955G	MFN2	NM_014874.3(MFN2):c.-149-15T>G	noncoding	Benign/Likely_benign
1	11982039	C	T	C11982039T	MFN2	NM_014874.4(MFN2):c.-80C>T	noncoding	Benign
1	11989152	G	T	G11989152T	MFN2	NM_014874.3(MFN2):c.-4-13G>T	noncoding	Benign/Likely_benign
1	11989240	G	T	G11989240T	MFN2	NM_014874.3(MFN2):c.72G>T:p.Val24=	coding	Benign/Likely_benign
1	11989318	C	A	C11989318A	MFN2	NM_014874.3(MFN2):c.150C>A:p.Ile50=	coding	Benign/Likely_benign
1	11989327	C	T	C11989327T	MFN2	NM_014874.3(MFN2):c.159C>T:p.Ser53=	coding	Benign/Likely_benign
1	11989333	C	T	C11989333T	MFN2	NM_014874.3(MFN2):c.165C>T:p.Thr55=	coding	Benign/Likely_benign
1	11992348	G	A	G11992348A	MFN2	NM_014874.3(MFN2):c.176-207G>A	noncoding	Benign
1	11992496	C	G	C11992496G	MFN2	NM_014874.3(MFN2):c.176-59C>G	noncoding	Benign
1	11992548	C	T	C11992548T	MFN2	NM_014874.3(MFN2):c.176-7C>T	noncoding	Benign/Likely_benign
1	11992584	G	T	G11992584T	MFN2	NM_014874.3(MFN2):c.205G>T:p.Val69Phe	coding	Pathogenic
1	11992606	T	C	T11992606C	MFN2	NM_014874.3(MFN2):c.227T>C:p.Leu76Pro	coding	Pathogenic
1	11992654	T	C	T11992654C	MFN2	NM_014874.3(MFN2):c.275T>C:p.Leu92Pro	coding	Pathogenic
1	11992659	C	G	C11992659G	MFN2	NM_014874.3(MFN2):c.280C>G:p.Arg94Gly	coding	Pathogenic
1	11992659	C	T	C11992659T	MFN2	NM_014874.3(MFN2):c.280C>T:p.Arg94Trp	coding	Pathogenic
1	11992660	G	A	G11992660A	MFN2	NM_014874.3(MFN2):c.281G>A:p.Arg94Gln	coding	Pathogenic
1	11992689	C	T	C11992689T	MFN2	NM_014874.3(MFN2):c.310C>T:p.Arg104Trp	coding	Pathogenic
1	11996018	C	G	C11996018G	MFN2	NM_014874.3(MFN2):c.312-138C>G	noncoding	Benign
1	11996157	A	G	A11996157G	MFN2	NM_014874.3(MFN2):c.313A>G:p.Thr105Ala	coding	Pathogenic
1	11996158	C	T	C11996158T	MFN2	NM_014874.3(MFN2):c.314C>T:p.Thr105Met	coding	Pathogenic/Likely_pathogenic
1	11996252	A	T	A11996252T	MFN2	NM_014874.3(MFN2):c.408A>T:p.Val136=	coding	Benign/Likely_benign
1	11997295	A	G	A11997295G	MFN2	NM_014874.3(MFN2):c.475-2A>G	noncoding	Pathogenic
1	11997296	G	C	G11997296C	MFN2	NM_014874.3(MFN2):c.475-1G>C	noncoding	Pathogenic
1	11997315	C	G	C11997315G	MFN2	NM_014874.3(MFN2):c.493C>G:p.His165Asp	coding	Pathogenic
1	11997315	C	T	C11997315T	MFN2	NM_014874.3(MFN2):c.493C>T:p.His165Tyr	coding	Pathogenic
1	11997316	A	G	A11997316G	MFN2	NM_014874.3(MFN2):c.494A>G:p.His165Arg	coding	Pathogenic
1	11997319	C	T	C11997319T	MFN2	NM_014874.3(MFN2):c.497C>T:p.Ala166Val	coding	Pathogenic/Likely_pathogenic
1	11997344	T	C	T11997344C	MFN2	NM_014874.3(MFN2):c.522T>C:p.His174=	coding	Benign/Likely_benign
1	11997365	G	A	G11997365A	MFN2	NM_014874.4(MFN2):c.543G>A:p.Val181=	coding	Benign
1	11997386	C	T	C11997386T	MFN2	NM_014874.3(MFN2):c.564C>T:p.Cys188=	coding	Benign/Likely_benign
1	11997536	A	C	A11997536C	MFN2	NM_014874.3(MFN2):c.599+115A>C	noncoding	Benign
1	11998523	G	A	G11998523A	MFN2	NM_014874.3(MFN2):c.600-247G>A	noncoding	Benign
1	11998787	C	T	C11998787T	MFN2	NM_001127660.1(MFN2):c.617C>T:p.Thr206Ile	coding	Pathogenic
1	11998798	G	T	G11998798T	MFN2	NM_014874.3(MFN2):c.628G>T:p.Asp210Tyr	coding	Pathogenic
1	11998808	T	C	T11998808C	MFN2	NM_014874.3(MFN2):c.638T>C:p.Ile213Thr	coding	Pathogenic
1	11998817	T	C	T11998817C	MFN2	NM_014874.3(MFN2):c.647T>C:p.Phe216Ser	coding	Pathogenic/Likely_pathogenic
1	11998833	T	C	T11998833C	MFN2	NM_014874.3(MFN2):c.663T>C:p.Asp221=	coding	Benign
1	11998873	C	T	C11998873T	MFN2	NM_014874.3(MFN2):c.703C>T:p.Gln235Ter	coding	Pathogenic
1	11998877	C	T	C11998877T	MFN2	NM_014874.3(MFN2):c.707C>T:p.Thr236Met	coding	Pathogenic/Likely_pathogenic
1	11998997	T	G	T11998997G	MFN2	NM_014874.3(MFN2):c.718T>G:p.Phe240Val	coding	Pathogenic
1	11999009	G	A	G11999009A	MFN2	NM_014874.3(MFN2):c.730G>A:p.Val244Met	coding	Pathogenic
1	11999009	G	T	G11999009T	MFN2	NM_001127660.1(MFN2):c.730G>T:p.Val244Leu	coding	Pathogenic
1	11999023	C	T	C11999023T	MFN2	NM_014874.3(MFN2):c.744C>T:p.Leu248=	coding	Benign
1	11999025	C	T	C11999025T	MFN2	NM_014874.4(MFN2):c.746C>T:p.Ser249Phe	coding	Pathogenic/Likely_pathogenic
1	11999027	C	T	C11999027T	MFN2	NM_014874.3(MFN2):c.748C>T:p.Arg250Trp	coding	Pathogenic/Likely_pathogenic
1	11999030	C	G	C11999030G	MFN2	NM_014874.3(MFN2):c.751C>G:p.Pro251Ala	coding	Pathogenic
1	11999054	C	T	C11999054T	MFN2	NM_014874.3(MFN2):c.775C>T:p.Arg259Cys	coding	Pathogenic/Likely_pathogenic
1	11999055	G	A	G11999055A	MFN2	NM_014874.3(MFN2):c.776G>A:p.Arg259His	coding	Pathogenic
1	11999055	G	T	G11999055T	MFN2	NM_014874.3(MFN2):c.776G>T:p.Arg259Leu	coding	Pathogenic
1	11999355	C	T	C11999355T	MFN2	NM_014874.3(MFN2):c.816+260C>T	noncoding	Benign
1	12001423	G	A	G12001423A	MFN2	NM_014874.3(MFN2):c.839G>A:p.Arg280His	coding	Pathogenic
1	12001464	C	T	C12001464T	MFN2	NM_014874.4(MFN2):c.880C>T:p.Arg294Ter	coding	Pathogenic
1	12001475	C	T	C12001475T	MFN2	NM_014874.3(MFN2):c.891C>T:p.Ala297=	coding	Benign/Likely_benign
1	12001541	C	T	C12001541T	MFN2	NM_014874.3(MFN2):c.957C>T:p.Gly319=	coding	Benign
1	12001573	G	A	G12001573A	MFN2	NM_014874.3(MFN2):c.970+19G>A	noncoding	Benign
1	12001773	C	T	C12001773T	MFN2	NM_014874.3(MFN2):c.975C>T:p.Gly325=	coding	Benign
1	12001963	G	A	G12001963A	MFN2	NM_014874.3(MFN2):c.1039-19G>A	noncoding	Benign
1	12002024	C	T	C12002024T	MFN2	NM_014874.3(MFN2):c.1081C>T:p.His361Tyr	coding	Pathogenic
1	12002025	A	C	A12002025C	MFN2	NM_014874.3(MFN2):c.1082A>C:p.His361Pro	coding	Pathogenic
1	12002025	A	G	A12002025G	MFN2	NM_014874.3(MFN2):c.1082A>G:p.His361Arg	coding	Pathogenic/Likely_pathogenic
1	12002033	C	T	C12002033T	MFN2	NM_014874.3(MFN2):c.1090C>T:p.Arg364Trp	coding	Pathogenic
1	12002034	G	A	G12002034A	MFN2	NM_014874.3(MFN2):c.1091G>A:p.Arg364Gln	coding	Pathogenic
1	12002034	G	C	G12002034C	MFN2	NM_014874.3(MFN2):c.1091G>C:p.Arg364Pro	coding	Pathogenic
1	12002060	C	T	C12002060T	MFN2	NM_014874.4(MFN2):c.1117C>T:p.Arg373Ter	coding	Pathogenic
1	12002069	A	G	A12002069G	MFN2	NM_014874.3(MFN2):c.1126A>G:p.Met376Val	coding	Pathogenic/Likely_pathogenic
1	12002091	C	T	C12002091T	MFN2	NM_014874.3(MFN2):c.1148C>T:p.Ala383Val	coding	Pathogenic
1	12002304	C	G	C12002304G	MFN2	NM_014874.3(MFN2):c.1160+201C>G	noncoding	Benign
1	12004010	G	A	G12004010A	MFN2	NM_014874.3(MFN2):c.1179G>A:p.Met393Ile	coding	Benign/Likely_benign
1	12004029	C	T	C12004029T	MFN2	NM_014874.3(MFN2):c.1198C>T:p.Arg400Ter	coding	Pathogenic
1	12004083	C	T	C12004083T	MFN2	NM_014874.3(MFN2):c.1252C>T:p.Arg418Ter	coding	Pathogenic/Likely_pathogenic
1	12004513	C	A	C12004513A	MFN2	NM_014874.3(MFN2):c.1292C>A:p.Ser431Ter	coding	Pathogenic
1	12004614	G	A	G12004614A	MFN2	NM_014874.3(MFN2):c.1392+1G>A	coding	Pathogenic
1	12004884	G	A	G12004884A	MFN2	NM_014874.3(MFN2):c.1452G>A:p.Thr484=	coding	Benign/Likely_benign
1	12004936	C	T	C12004936T	MFN2	NM_014874.3(MFN2):c.1495+9C>T	noncoding	Benign/Likely_benign
1	12005744	G	A	G12005744A	MFN2	NM_014874.4(MFN2):c.1529G>A:p.Arg510Gln	coding	Benign/Likely_benign
1	12005784	C	T	C12005784T	MFN2	NM_014874.3(MFN2):c.1569C>T:p.Ser523=	coding	Benign
1	12006056	C	T	C12006056T	MFN2	NM_014874.3(MFN2):c.1716+125C>T	noncoding	Benign
1	12006361	T	C	T12006361C	MFN2	NM_014874.3(MFN2):c.1717-177T>C	noncoding	Benign
1	12006549	C	T	C12006549T	MFN2	NM_014874.3(MFN2):c.1728C>T:p.Pro576=	coding	Benign/Likely_benign
1	12006627	C	T	C12006627T	MFN2	NM_014874.3(MFN2):c.1806C>T:p.Ser602=	coding	Benign/Likely_benign
1	12006899	C	G	C12006899G	MFN2	NM_014874.3(MFN2):c.1873-154C>G	noncoding	Benign
1	12006987	T	G	T12006987G	MFN2	NM_014874.3(MFN2):c.1873-66T>G	noncoding	Benign
1	12007130	G	A	G12007130A	MFN2	NM_014874.3(MFN2):c.1950G>A:p.Leu650=	coding	Benign/Likely_benign
1	12007217	C	G	C12007217G	MFN2	NM_014874.3(MFN2):c.2037C>G:p.Tyr679Ter	coding	Pathogenic
1	12009529	C	T	C12009529T	MFN2	NM_014874.3(MFN2):c.2070-63C>T	noncoding	Benign
1	12009635	G	A	G12009635A	MFN2	NM_014874.3(MFN2):c.2113G>A:p.Val705Ile	coding	Benign
1	12009641	C	T	C12009641T	MFN2	NM_014874.3(MFN2):c.2119C>T:p.Arg707Trp	coding	Pathogenic/Likely_pathogenic
1	12009699	C	G	C12009699G	MFN2	NM_014874.4(MFN2):c.2177C>G:p.Ser726Ter	coding	Pathogenic
1	12009741	T	C	T12009741C	MFN2	NM_014874.3(MFN2):c.2204+15T>C	noncoding	Benign
1	12011483	C	A	C12011483A	MFN2	NM_014874.3(MFN2):c.2205-13C>A	noncoding	Benign
1	12011510	G	C	G12011510C	MFN2	NM_014874.3(MFN2):c.2219G>C:p.Trp740Ser	coding	Pathogenic
1	12011512	T	G	T12011512G	MFN2	NM_014874.3(MFN2):c.2221T>G:p.Leu741Val	coding	Pathogenic
1	12011542	C	T	C12011542T	MFN2	NM_014874.3(MFN2):c.2251C>T:p.Gln751Ter	coding	Pathogenic
1	12011547	C	A	C12011547A	MFN2	NM_014874.4(MFN2):c.2256C>A:p.Tyr752Ter	coding	Pathogenic
1	12011547	C	G	C12011547G	MFN2	NM_014874.3(MFN2):c.2256C>G:p.Tyr752Ter	coding	Pathogenic
1	12011580	G	A	G12011580A	MFN2	NM_014874.3(MFN2):c.*15G>A	noncoding	Benign/Likely_benign
1	12011591	G	A	G12011591A	MFN2	NM_014874.4(MFN2):c.*26G>A	noncoding	Benign/Likely_benign
1	12011623	A	G	A12011623G	MFN2	NM_014874.3(MFN2):c.*58A>G	noncoding	Benign
1	12011791	C	T	C12011791T	MFN2	NM_014874.4(MFN2):c.*226C>T	noncoding	Benign
1	12011796	G	A	G12011796A	MFN2	NM_014874.3(MFN2):c.*231G>A	noncoding	Benign
1	12011869	A	G	A12011869G	MFN2	NM_014874.4(MFN2):c.*304A>G	noncoding	Benign
1	12012295	C	T	C12012295T	MFN2	NM_014874.3(MFN2):c.*730C>T	noncoding	Benign
1	12012342	T	C	T12012342C	MFN2	NM_014874.3(MFN2):c.*777T>C	noncoding	Benign
1	12012461	G	C	G12012461C	MFN2	NM_014874.3(MFN2):c.*896G>C	noncoding	Benign
1	12012477	C	T	C12012477T	MFN2	NM_014874.3(MFN2):c.*912C>T	noncoding	Benign
1	12012599	C	T	C12012599T	MFN2	NM_014874.4(MFN2):c.*1034C>T	noncoding	Benign
1	12012665	A	G	A12012665G	MFN2	NM_014874.3(MFN2):c.*1100A>G	noncoding	Benign
1	12012726	C	A	C12012726A	MFN2	NM_014874.3(MFN2):c.*1161C>A	noncoding	Benign
1	12012823	G	A	G12012823A	MFN2	NM_014874.3(MFN2):c.*1258G>A	noncoding	Benign
1	12013053	C	T	C12013053T	MFN2	NM_014874.3(MFN2):c.*1488C>T	noncoding	Benign
1	12013111	G	A	G12013111A	MFN2	NM_014874.3(MFN2):c.*1546G>A	noncoding	Benign
1	12013127	G	A	G12013127A	MFN2	NM_014874.3(MFN2):c.*1562G>A	noncoding	Benign
1	12013141	C	T	C12013141T	MFN2	NM_014874.3(MFN2):c.*1576C>T	noncoding	Benign
1	12013271	T	G	T12013271G	MFN2	NM_014874.3(MFN2):c.*1706T>G	noncoding	Benign/Likely_benign
1	12013395	C	T	C12013395T	MFN2	NM_014874.4(MFN2):c.*1830C>T	noncoding	Benign
1	12021838	G	A	G12021838A	MIIP	NM_021933.4(MIIP):c.112G>A:p.Glu38Lys	coding	Benign
1	12029085	C	G	C12029085G	MIIP	NM_021933.4(MIIP):c.600C>G:p.Ser200=	coding	Benign
1	12029106	A	G	A12029106G	MIIP	NM_021933.4(MIIP):c.621A>G:p.Glu207=	coding	Benign
1	12029788	C	T	C12029788T	MIIP	NM_021933.4(MIIP):c.739C>T:p.Arg247Trp	coding	Benign
1	12029794	C	T	C12029794T	MIIP	NM_021933.4(MIIP):c.745C>T:p.Leu249=	coding	Benign
1	12029889	C	G	C12029889G	MIIP	NM_021933.4(MIIP):c.840C>G:p.His280Gln	coding	Benign
1	12030097	C	T	C12030097T	MIIP	NM_021933.4(MIIP):c.915C>T:p.Asp305=	coding	Benign
1	12031782	C	T	C12031782T	MIIP	NM_021933.4(MIIP):c.1141C>T:p.Pro381Ser	coding	Benign
1	12031794	C	T	C12031794T	MIIP	NM_021933.4(MIIP):c.1153C>T:p.Arg385Trp	coding	Benign
1	12104437	A	G	A12104437G	TNFRSF8	NM_001243.5(TNFRSF8):c.327A>G:p.Arg109=	coding	Benign
1	12111992	G	A	G12111992A	TNFRSF8	NM_001243.5(TNFRSF8):c.771G>A:p.Thr257=	coding	Benign
1	12115596	G	A	G12115596A	TNFRSF8	NM_001243.5(TNFRSF8):c.813G>A:p.Thr271=	coding	Benign
1	12123315	G	A	G12123315A	TNFRSF8	NM_001243.5(TNFRSF8):c.978G>A:p.Ala326=	coding	Benign
1	12135604	G	A	G12135604A	TNFRSF8	NM_001243.5(TNFRSF8):c.1326G>A:p.Arg442=	coding	Benign
1	12142498	A	C	A12142498C	TNFRSF8	NM_001243.5(TNFRSF8):c.1755A>C:p.Glu585Asp	coding	Benign
1	12192516	C	T	C12192516T	TNFRSF1B	NM_001066.3(TNFRSF1B):c.543C>T:p.Pro181=	coding	Benign
1	12192870	G	A	G12192870A	TNFRSF1B	NM_001066.3(TNFRSF1B):c.559G>A:p.Val187Met	coding	Benign
1	12192919	C	T	C12192919T	TNFRSF1B	NM_001066.3(TNFRSF1B):c.608C>T:p.Thr203Met	coding	Benign
1	12193958	T	C	T12193958C	TNFRSF1B	NM_001066.3(TNFRSF1B):c.791T>C:p.Leu264Pro	coding	Benign
1	12201985	A	G	A12201985G	TNFRSF1B	NM_001066.3(TNFRSF1B):c.919A>G:p.Lys307Glu	coding	Benign
1	12244587	C	T	C12244587T	VPS13D	NM_015378.4(VPS13D):c.417C>T:p.Ser139=	coding	Benign
1	12249306	G	C	G12249306C	VPS13D	NM_015378.4(VPS13D):c.531G>C:p.Lys177Asn	coding	Benign
1	12256336	G	A	G12256336A	VPS13D	NM_015378.4(VPS13D):c.673G>A:p.Ala225Thr	coding	Benign
1	12256375	G	A	G12256375A	VPS13D	NM_015378.4(VPS13D):c.712G>A:p.Val238Ile	coding	Benign
1	12257064	A	G	A12257064G	VPS13D	NM_015378.4(VPS13D):c.918A>G:p.Lys306=	coding	Benign
1	12257939	C	T	C12257939T	VPS13D	NM_015378.4(VPS13D):c.946C>T:p.Arg316Ter	coding	Pathogenic/Likely_pathogenic
1	12271041	C	T	C12271041T	VPS13D	NM_015378.4(VPS13D):c.2020C>T:p.Arg674Ter	coding	Pathogenic
1	12273030	C	T	C12273030T	VPS13D	NM_015378.4(VPS13D):c.2131C>T:p.Leu711=	coding	Benign
1	12276447	G	A	G12276447A	VPS13D	NM_015378.4(VPS13D):c.2859G>A:p.Gln953=	coding	Benign
1	12276760	C	G	C12276760G	VPS13D	NM_015378.4(VPS13D):c.3172C>G:p.Leu1058Val	coding	Benign
1	12276904	C	T	C12276904T	VPS13D	NM_015378.4(VPS13D):c.3316C>T:p.Gln1106Ter	coding	Pathogenic
1	12277157	G	A	G12277157A	VPS13D	NM_015378.4(VPS13D):c.3569G>A:p.Gly1190Asp	coding	Pathogenic
1	12277548	C	T	C12277548T	VPS13D	NM_015378.4(VPS13D):c.3960C>T:p.Ser1320=	coding	Benign
1	12277879	C	T	C12277879T	VPS13D	NM_015378.4(VPS13D):c.4291C>T:p.Leu1431=	coding	Benign
1	12277959	C	T	C12277959T	VPS13D	NM_015378.4(VPS13D):c.4371C>T:p.Ser1457=	coding	Benign
1	12282933	G	A	G12282933A	VPS13D	NM_015378.4(VPS13D):c.4831G>A:p.Glu1611Lys	coding	Benign
1	12283511	C	A	C12283511A	VPS13D	NM_015378.4(VPS13D):c.5409C>A:p.Tyr1803Ter	coding	Pathogenic
1	12288323	G	T	G12288323T	VPS13D	NM_015378.4(VPS13D):c.5725+10G>T	noncoding	Benign
1	12304571	G	A	G12304571A	VPS13D	NM_015378.4(VPS13D):c.6282G>A:p.Thr2094=	coding	Benign
1	12322574	T	C	T12322574C	VPS13D	NM_015378.4(VPS13D):c.7743T>C:p.Asn2581=	coding	Benign
1	12368581	A	G	A12368581G	VPS13D	NM_015378.4(VPS13D):c.10562A>G:p.Asn3521Ser	coding	Pathogenic
1	12369649	G	A	G12369649A	VPS13D	NM_015378.4(VPS13D):c.10755G>A:p.Arg3585=	coding	Benign
1	12383159	A	T	A12383159T	VPS13D	NM_015378.4(VPS13D):c.11370+4A>T	noncoding	Benign
1	12400267	C	A	C12400267A	VPS13D	NM_015378.4(VPS13D):c.11721C>A:p.Gly3907=	coding	Benign
1	12456014	C	G	C12456014G	VPS13D	NM_015378.4(VPS13D):c.12350C>G:p.Ser4117Ter	coding	Pathogenic
1	12460363	C	T	C12460363T	VPS13D	NM_015378.4(VPS13D):c.12629C>T:p.Ala4210Val	coding	Pathogenic
1	12497520	G	A	G12497520A	VPS13D	NM_015378.4(VPS13D):c.12683G>A:p.Arg4228Gln	coding	Pathogenic
1	12507073	C	G	C12507073G	VPS13D	NM_015378.4(VPS13D):c.13015C>G:p.Pro4339Ala	coding	Benign
1	12578936	C	T	C12578936T	DHRS3	NM_004753.7(DHRS3):c.480G>A:p.Pro160=	coding	Benign
1	12793254	A	C	A12793254C	PRAMEF1	NM_023013.4(PRAMEF1):c.27A>C:p.Leu9=	coding	Benign
1	12793948	T	C	T12793948C	PRAMEF1	NM_023013.4(PRAMEF1):c.321T>C:p.Asp107=	coding	Benign
1	12793956	A	G	A12793956G	PRAMEF1	NM_023013.4(PRAMEF1):c.329A>G:p.Glu110Gly	coding	Benign
1	13583851	C	T	C13583851T	PDPN	NM_006474.4(PDPN):c.46C>T:p.Arg16Trp	coding	Benign
1	13610458	C	T	C13610458T	PDPN	NM_006474.4(PDPN):c.501C>T:p.His167=	coding	Benign
1	13610479	C	T	C13610479T	PDPN	NM_006474.4(PDPN):c.522C>T:p.Ser174=	coding	Benign
1	13780617	C	T	C13780617T	PRDM2	NM_012231.4(PRDM2):c.2822C>T:p.Thr941Ile	coding	Benign
1	13780983	C	T	C13780983T	PRDM2	NM_012231.4(PRDM2):c.3188C>T:p.Ser1063Leu	coding	Benign
1	15215144	G	A	G15215144A	TMEM51	NM_001136218.2(TMEM51):c.57G>A:p.Leu19=	coding	Benign
1	15215414	C	T	C15215414T	TMEM51	NM_001136218.2(TMEM51):c.327C>T:p.His109=	coding	Benign
1	15219737	C	T	C15219737T	TMEM51	NM_001136218.2(TMEM51):c.756C>T:p.Pro252=	coding	Benign
1	15440327	C	T	C15440327T	CTRC	NM_007272.3(CTRC):c.68C>T:p.Pro23Leu	coding	Benign
1	15440344	C	T	C15440344T	CTRC	NM_007272.3(CTRC):c.85C>T:p.Arg29Ter	coding	Pathogenic
1	15440369	G	A	G15440369A	CTRC	NM_007272.3(CTRC):c.110G>A:p.Arg37Gln	coding	Benign/Likely_benign
1	15440516	C	T	C15440516T	CTRC	NM_007272.3(CTRC):c.156C>T:p.Asn52=	coding	Benign
1	15440540	C	A	C15440540A	CTRC	NM_007272.3(CTRC):c.180C>A:p.Gly60=	coding	Benign/Likely_benign
1	15440540	C	T	C15440540T	CTRC	NM_007272.3(CTRC):c.180C>T:p.Gly60=	coding	Benign
1	15440628	C	T	C15440628T	CTRC	NM_007272.3(CTRC):c.230+38C>T	noncoding	Benign
1	15442501	C	T	C15442501T	CTRC	NM_007272.3(CTRC):c.285C>T:p.Asp95=	coding	Benign
1	15442643	G	A	G15442643A	CTRC	NM_007272.3(CTRC):c.356+71G>A	noncoding	Benign
1	15443375	C	G	C15443375G	CTRC	NM_007272.3(CTRC):c.357-44C>G	noncoding	Benign
1	15443431	C	T	C15443431T	CTRC	NM_007272.3(CTRC):c.369C>T:p.Ala123=	coding	Benign/Likely_benign
1	15443604	G	C	G15443604C	CTRC	NM_007272.3(CTRC):c.493+49G>C	noncoding	Benign
1	15443606	C	A	C15443606A	CTRC	NM_007272.3(CTRC):c.493+51C>A	noncoding	Benign
1	15443607	G	A	G15443607A	CTRC	NM_007272.3(CTRC):c.493+52G>A	noncoding	Benign
1	15444593	A	G	A15444593G	CTRC	NM_007272.3(CTRC):c.494-13A>G	noncoding	Benign
1	15444600	C	T	C15444600T	CTRC	NM_007272.3(CTRC):c.494-6C>T	noncoding	Benign
1	15444626	A	G	A15444626G	CTRC	NM_007272.3(CTRC):c.514A>G:p.Lys172Glu	coding	Benign
1	15444667	G	A	G15444667A	CTRC	NM_007272.3(CTRC):c.555G>A:p.Thr185=	coding	Benign/Likely_benign
1	15445562	G	T	G15445562T	CTRC	NM_007272.3(CTRC):c.640-35G>T	noncoding	Benign
1	15445606	G	C	G15445606C	CTRC	NM_007272.3(CTRC):c.649G>C:p.Gly217Arg	coding	Pathogenic
1	15445647	G	A	G15445647A	CTRC	NM_007272.3(CTRC):c.690G>A:p.Glu230=	coding	Benign
1	15445704	G	A	G15445704A	CTRC	NM_007272.3(CTRC):c.747G>A:p.Pro249=	coding	Benign/Likely_benign
1	15446672	T	C	T15446672C	CTRC	NM_007272.3(CTRC):c.*83T>C	noncoding	Benign
1	15461640	C	T	C15461640T	CELA2A	NM_033440.3(CELA2A):c.209C>T:p.Thr70Met	coding	Pathogenic
1	15462758	C	A	C15462758A	CELA2A	NM_033440.3(CELA2A):c.253C>A:p.Leu85Met	coding	Pathogenic
1	15463390	G	A	G15463390A	CELA2A	NM_033440.3(CELA2A):c.361G>A:p.Asp121Asn	coding	Pathogenic
1	15466145	G	C	G15466145C	CELA2A	NM_033440.3(CELA2A):c.639+1G>C	coding	Pathogenic
1	15487341	T	C	T15487341C	CELA2B	NM_015849.3(CELA2B):c.696T>C:p.His232=	coding	Benign
1	15493953	G	T	G15493953T	CASP9	NM_001229.5(CASP9):c.1097C>A:p.Thr366Asn	coding	Benign
1	15505981	G	A	G15505981A	CASP9	NM_001229.5(CASP9):c.720+9C>T	noncoding	Benign
1	15518212	G	C	G15518212C	CASP9	NM_001229.5(CASP9):c.316C>G:p.Leu106Val	coding	Benign
1	15573657	G	A	G15573657A	AGMAT	NM_024758.5(AGMAT):c.1053C>T:p.Thr351=	coding	Benign
1	15578893	G	A	G15578893A	AGMAT	NM_024758.5(AGMAT):c.686C>T:p.Thr229Met	coding	Benign
1	15716230	C	T	C15716230T	PLEKHM2	NM_015164.4(PLEKHM2):c.61-7C>T	noncoding	Benign
1	15718592	C	T	C15718592T	PLEKHM2	NM_015164.4(PLEKHM2):c.432C>T:p.Ser144=	coding	Benign
1	15719829	C	T	C15719829T	PLEKHM2	NM_015164.4(PLEKHM2):c.561C>T:p.His187=	coding	Benign
1	15725312	C	A	C15725312A	PLEKHM2	NM_015164.4(PLEKHM2):c.713-5C>A	noncoding	Benign
1	15725435	A	G	A15725435G	PLEKHM2	NM_015164.4(PLEKHM2):c.831A>G:p.Ala277=	coding	Benign
1	15725495	G	C	G15725495C	PLEKHM2	NM_015164.4(PLEKHM2):c.891G>C:p.Glu297Asp	coding	Benign
1	15727007	G	A	G15727007A	PLEKHM2	NM_015164.4(PLEKHM2):c.942-7G>A	noncoding	Benign
1	15727011	C	T	C15727011T	PLEKHM2	NM_015164.4(PLEKHM2):c.942-3C>T	noncoding	Benign
1	15727132	C	T	C15727132T	PLEKHM2	NM_015164.4(PLEKHM2):c.1060C>T:p.Arg354Cys	coding	Benign
1	15727156	C	G	C15727156G	PLEKHM2	NM_015164.4(PLEKHM2):c.1084C>G:p.Arg362Gly	coding	Benign
1	15727314	C	T	C15727314T	PLEKHM2	NM_015164.4(PLEKHM2):c.1242C>T:p.Ile414=	coding	Benign
1	15727337	A	G	A15727337G	PLEKHM2	NM_015164.4(PLEKHM2):c.1265A>G:p.Asp422Gly	coding	Benign
1	15727358	G	A	G15727358A	PLEKHM2	NM_015164.4(PLEKHM2):c.1286G>A:p.Arg429His	coding	Benign
1	15728115	C	T	C15728115T	PLEKHM2	NM_015164.4(PLEKHM2):c.1797C>T:p.His599=	coding	Benign
1	15728350	C	T	C15728350T	PLEKHM2	NM_015164.4(PLEKHM2):c.1914C>T:p.Leu638=	coding	Benign
1	15730534	A	G	A15730534G	PLEKHM2	NM_015164.4(PLEKHM2):c.2211A>G:p.Ala737=	coding	Benign
1	15730547	G	A	G15730547A	PLEKHM2	NM_015164.4(PLEKHM2):c.2224G>A:p.Val742Met	coding	Benign
1	15731198	G	T	G15731198T	PLEKHM2	NM_015164.4(PLEKHM2):c.2406G>T:p.Gly802=	coding	Benign
1	15732471	C	T	C15732471T	PLEKHM2	NM_015164.4(PLEKHM2):c.2747C>T:p.Ala916Val	coding	Benign
1	15732490	C	T	C15732490T	PLEKHM2	NM_015164.4(PLEKHM2):c.2766C>T:p.Ser922=	coding	Benign
1	15765098	C	T	C15765098T	FBLIM1	NM_017556.4(FBLIM1):c.115C>T:p.Arg39Cys	coding	Benign
1	15765205	G	A	G15765205A	FBLIM1	NM_017556.4(FBLIM1):c.222G>A:p.Pro74=	coding	Benign
1	15768557	C	T	C15768557T	FBLIM1	NM_017556.4(FBLIM1):c.468C>T:p.Pro156=	coding	Benign
1	15768609	G	A	G15768609A	FBLIM1	NM_017556.4(FBLIM1):c.520G>A:p.Val174Ile	coding	Benign
1	15774828	G	T	G15774828T	FBLIM1	NM_017556.4(FBLIM1):c.890+32G>T	coding	Benign
1	15807479	T	C	T15807479C	UQCRHL	NM_001089591.1(UQCRHL):c.171A>G:p.Val57=	coding	Benign
1	15807492	T	C	T15807492C	UQCRHL	NM_001089591.1(UQCRHL):c.158A>G:p.Tyr53Cys	coding	Benign
1	15920891	G	A	G15920891A	SPEN	NM_015001.3(SPEN):c.1657G>A:p.Gly553Ser	coding	Benign
1	15931150	T	C	T15931150C	SPEN	NM_015001.3(SPEN):c.4910T>C:p.Val1637Ala	coding	Benign
1	15933897	A	G	A15933897G	SPEN	NM_015001.3(SPEN):c.7657A>G:p.Ser2553Gly	coding	Benign
1	15935970	A	C	A15935970C	SPEN	NM_015001.3(SPEN):c.9730A>C:p.Thr3244Pro	coding	Benign
1	15935976	A	C	A15935976C	SPEN	NM_015001.3(SPEN):c.9736A>C:p.Thr3246Pro	coding	Benign
1	15937621	C	T	C15937621T	SPEN	NM_015001.3(SPEN):c.10485C>T:p.Pro3495=	coding	Benign
1	15937958	G	A	G15937958A	SPEN	NM_015001.3(SPEN):c.10656G>A:p.Arg3552=	coding	Benign
1	15942545	G	C	G15942545C	ZBTB17	NM_001287603.1(ZBTB17):c.2022C>G:p.Ala674=	coding	Benign
1	16015706	C	T	C16015706T	HSPB7	NM_014424.4(HSPB7):c.387G>A:p.Pro129=	coding	Benign
1	16017812	T	C	T16017812C	HSPB7	NM_014424.4(HSPB7):c.152A>G:p.Asp51Gly	coding	Benign
1	16017813	C	T	C16017813T	HSPB7	NM_014424.4(HSPB7):c.151G>A:p.Asp51Asn	coding	Benign
1	16022729	A	G	A16022729G	CLCNKA	NM_004070.4(CLCNKA):c.100+10A>G	noncoding	Benign
1	16024773	G	C	G16024773C	CLCNKA	NM_004070.4(CLCNKA):c.240G>C:p.Trp80Cys	coding	Pathogenic
1	16024780	A	G	A16024780G	CLCNKA	NM_004070.4(CLCNKA):c.247A>G:p.Arg83Gly	coding	Benign
1	16024843	G	A	G16024843A	CLCNKA	NM_004070.4(CLCNKA):c.310G>A:p.Val104Ile	coding	Benign
1	16026235	C	T	C16026235T	CLCNKA	NM_004070.4(CLCNKA):c.486C>T:p.Phe162=	coding	Benign
1	16027431	G	A	G16027431A	CLCNKA	NM_004070.4(CLCNKA):c.777G>A:p.Glu259=	coding	Benign
1	16027432	C	T	C16027432T	CLCNKA	NM_004070.4(CLCNKA):c.778C>T:p.Gln260Ter	coding	Pathogenic
1	16027899	C	T	C16027899T	CLCNKA	NM_004070.4(CLCNKA):c.860C>T:p.Ala287Val	coding	Benign
1	16028010	C	T	C16028010T	CLCNKA	NM_004070.4(CLCNKA):c.867-8C>T	noncoding	Benign
1	16028754	C	G	C16028754G	CLCNKA	NM_004070.4(CLCNKA):c.969-7C>G	noncoding	Benign
1	16028797	C	T	C16028797T	CLCNKA	NM_004070.4(CLCNKA):c.1005C>T:p.Leu335=	coding	Benign/Likely_benign
1	16029158	C	T	C16029158T	CLCNKA	NM_004070.4(CLCNKA):c.1086C>T:p.Phe362=	coding	Benign
1	16029233	T	G	T16029233G	CLCNKA	NM_004070.4(CLCNKA):c.1161T>G:p.Leu387=	coding	Benign
1	16030455	C	T	C16030455T	CLCNKA	NM_004070.4(CLCNKA):c.1409-6C>T	noncoding	Benign
1	16030582	C	G	C16030582G	CLCNKA	NM_004070.4(CLCNKA):c.1530C>G:p.Ala510=	coding	Benign
1	16031853	T	C	T16031853C	CLCNKA	NM_004070.4(CLCNKA):c.1756+10T>C	noncoding	Benign
1	16032437	T	C	T16032437C	CLCNKA	NM_004070.4(CLCNKA):c.1846-6T>C	noncoding	Benign
1	16033220	G	A	G16033220A	CLCNKA	NM_004070.4(CLCNKA):c.1980G>A:p.Ser660=	coding	Benign
1	16033222	G	A	G16033222A	CLCNKA	NM_004070.4(CLCNKA):c.1982G>A:p.Arg661Gln	coding	Benign
1	16033225	G	T	G16033225T	CLCNKA	NM_004070.4(CLCNKA):c.1985G>T:p.Gly662Val	coding	Pathogenic
1	16033649	T	C	T16033649C	CLCNKA	NM_004070.4(CLCNKA):c.2055T>C:p.Ala685=	coding	Benign/Likely_benign
1	16044504	T	G	T16044504G	CLCNKB	NM_000085.5(CLCNKB):c.12T>G:p.Phe4Leu	coding	Benign
1	16044572	G	T	G16044572T	CLCNKB	NM_000085.4(CLCNKB):c.80G>T:p.Arg27Leu	coding	Benign
1	16045628	G	A	G16045628A	CLCNKB	NM_000085.4(CLCNKB):c.171G>A:p.Gly57=	coding	Benign/Likely_benign
1	16045683	C	T	C16045683T	CLCNKB	NM_000085.5(CLCNKB):c.226C>T:p.Arg76Ter	coding	Pathogenic
1	16046534	G	C	G16046534C	CLCNKB	NM_000085.4(CLCNKB):c.230-1G>C	noncoding	Pathogenic
1	16046536	G	A	G16046536A	CLCNKB	NM_000085.5(CLCNKB):c.231G>A:p.Ala77=	coding	Benign
1	16046563	G	A	G16046563A	CLCNKB	NM_000085.4(CLCNKB):c.258G>A:p.Gly86=	coding	Benign/Likely_benign
1	16046567	A	C	A16046567C	CLCNKB	NM_000085.4(CLCNKB):c.262A>C:p.Ser88Arg	coding	Benign
1	16046615	G	A	G16046615A	CLCNKB	NM_000085.5(CLCNKB):c.310G>A:p.Val104Ile	coding	Benign
1	16046629	A	G	A16046629G	CLCNKB	NM_000085.4(CLCNKB):c.324A>G:p.Ser108=	coding	Benign
1	16047917	C	T	C16047917T	CLCNKB	NM_000085.4(CLCNKB):c.371C>T:p.Pro124Leu	coding	Pathogenic
1	16048038	G	C	G16048038C	CLCNKB	NM_000085.4(CLCNKB):c.492G>C:p.Gly164=	coding	Benign
1	16048354	G	C	G16048354C	CLCNKB	NM_000085.5(CLCNKB):c.510G>C:p.Val170=	coding	Benign
1	16048499	C	T	C16048499T	CLCNKB	NM_000085.4(CLCNKB):c.577-5C>T	noncoding	Benign/Likely_benign
1	16048537	G	A	G16048537A	CLCNKB	NM_000085.5(CLCNKB):c.610G>A	coding	Pathogenic
1	16048568	C	G	C16048568G	CLCNKB	NM_000085.4(CLCNKB):c.641C>G:p.Ala214Gly	coding	Benign
1	16048569	A	C	A16048569C	CLCNKB	NM_000085.4(CLCNKB):c.642A>C:p.Ala214=	coding	Benign
1	16049015	G	A	G16049015A	CLCNKB	NM_000085.4(CLCNKB):c.656-105G>A	coding	Benign
1	16049137	G	T	G16049137T	CLCNKB	NM_000085.5(CLCNKB):c.673G>T:p.Glu225Ter	coding	Pathogenic
1	16049172	C	A	C16049172A	CLCNKB	NM_000085.5(CLCNKB):c.708C>A:p.Tyr236Ter	coding	Pathogenic
1	16049226	G	A	G16049226A	CLCNKB	NM_000085.5(CLCNKB):c.762G>A:p.Ala254=	coding	Benign
1	16049616	A	G	A16049616G	CLCNKB	NM_000085.5(CLCNKB):c.782-2A>G	noncoding	Pathogenic
1	16049659	G	A	G16049659A	CLCNKB	NM_000085.5(CLCNKB):c.823G>A:p.Val275Ile	coding	Benign
1	16049696	C	T	C16049696T	CLCNKB	NM_000085.4(CLCNKB):c.860C>T:p.Ala287Val	coding	Benign
1	16049824	T	C	T16049824C	CLCNKB	NM_000085.4(CLCNKB):c.876T>C:p.Cys292=	coding	Benign
1	16049858	C	T	C16049858T	CLCNKB	NM_000085.5(CLCNKB):c.910C>T:p.Arg304Ter	coding	Pathogenic
1	16050593	C	A	C16050593A	CLCNKB	NM_000085.4(CLCNKB):c.1046C>A:p.Ala349Asp	coding	Pathogenic
1	16050613	G	C	G16050613C	CLCNKB	NM_000085.4(CLCNKB):c.1053+13G>C	noncoding	Benign
1	16050987	G	A	G16050987A	CLCNKB	NM_000085.4(CLCNKB):c.1166G>A:p.Trp389Ter	coding	Pathogenic
1	16051504	C	T	C16051504T	CLCNKB	NM_000085.4(CLCNKB):c.1254C>T:p.Thr418=	coding	Benign
1	16051505	A	G	A16051505G	CLCNKB	NM_000085.4(CLCNKB):c.1255A>G:p.Ile419Val	coding	Benign
1	16051544	T	C	T16051544C	CLCNKB	NM_000085.4(CLCNKB):c.1294T>C:p.Tyr432His	coding	Pathogenic
1	16051720	C	T	C16051720T	CLCNKB	NM_000085.4(CLCNKB):c.1308C>T:p.Ile436=	coding	Benign
1	16051721	G	A	G16051721A	CLCNKB	NM_000085.5(CLCNKB):c.1309G>A:p.Gly437Arg	coding	Pathogenic
1	16051737	A	G	A16051737G	CLCNKB	NM_000085.5(CLCNKB):c.1325A>G:p.Glu442Gly	coding	Pathogenic/Likely_pathogenic
1	16052192	T	C	T16052192C	CLCNKB	NM_000085.4(CLCNKB):c.1409-6T>C	noncoding	Benign/Likely_benign
1	16052230	A	T	A16052230T	CLCNKB	NM_000085.4(CLCNKB):c.1441A>T:p.Thr481Ser	coding	Benign
1	16052244	G	A	G16052244A	CLCNKB	NM_000085.4(CLCNKB):c.1455G>A:p.Ala485=	coding	Benign
1	16052316	C	T	C16052316T	CLCNKB	NM_000085.5(CLCNKB):c.1527C>T:p.Asn509=	coding	Benign
1	16052349	T	G	T16052349G	CLCNKB	NM_000085.5(CLCNKB):c.1560T>G:p.Tyr520Ter	coding	Pathogenic
1	16052359	G	A	G16052359A	CLCNKB	NM_000085.5(CLCNKB):c.1570G>A:p.Val524Ile	coding	Benign
1	16053701	T	C	T16053701C	CLCNKB	NM_000085.4(CLCNKB):c.1685T>C:p.Met562Thr	coding	Benign
1	16053745	G	A	G16053745A	CLCNKB	NM_000085.5(CLCNKB):c.1729G>A:p.Ala577Thr	coding	Benign
1	16053748	A	G	A16053748G	CLCNKB	NM_000085.4(CLCNKB):c.1732A>G:p.Lys578Glu	coding	Benign
1	16053757	C	T	C16053757T	CLCNKB	NM_000085.4(CLCNKB):c.1741C>T:p.Leu581=	coding	Benign
1	16055461	C	T	C16055461T	CLCNKB	NM_000085.4(CLCNKB):c.1783C>T:p.Arg595Ter	coding	Pathogenic
1	16055508	G	A	G16055508A	CLCNKB	NM_000085.4(CLCNKB):c.1830G>A:p.Trp610Ter	coding	Pathogenic
1	16055706	G	A	G16055706A	CLCNKB	NM_000085.4(CLCNKB):c.1877G>A:p.Cys626Tyr	coding	Benign/Likely_benign
1	16055759	G	A	G16055759A	CLCNKB	NM_000085.4(CLCNKB):c.1929+1G>A	coding	Pathogenic
1	16056416	A	G	A16056416G	CLCNKB	NM_000085.5(CLCNKB):c.1930-6A>G	noncoding	Benign
1	16056463	T	C	T16056463C	CLCNKB	NM_000085.5(CLCNKB):c.1971T>C:p.Phe657=	coding	Benign
1	16056471	C	T	C16056471T	CLCNKB	NM_000085.4(CLCNKB):c.1979C>T:p.Ser660Leu	coding	Benign
1	16057187	G	C	G16057187C	CLCNKB	NM_000085.4(CLCNKB):c.*271G>C	noncoding	Benign
1	16124473	A	T	A16124473T	EPHA2	NM_004431.5(EPHA2):c.*742T>A	noncoding	Benign
1	16124501	C	T	C16124501T	EPHA2	NM_004431.5(EPHA2):c.*714G>A	noncoding	Benign
1	16124547	C	A	C16124547A	EPHA2	NM_004431.5(EPHA2):c.*668G>T	noncoding	Benign
1	16124556	A	T	A16124556T	EPHA2	NM_004431.5(EPHA2):c.*659T>A	noncoding	Benign
1	16124705	C	T	C16124705T	EPHA2	NM_004431.5(EPHA2):c.*510G>A	noncoding	Benign
1	16124772	A	G	A16124772G	EPHA2	NM_004431.5(EPHA2):c.*443T>C	noncoding	Benign
1	16124855	C	T	C16124855T	EPHA2	NM_004431.5(EPHA2):c.*360G>A	noncoding	Benign
1	16124860	T	C	T16124860C	EPHA2	NM_004431.5(EPHA2):c.*355A>G	noncoding	Benign
1	16124918	C	T	C16124918T	EPHA2	NM_004431.5(EPHA2):c.*297G>A	noncoding	Benign
1	16125002	G	A	G16125002A	EPHA2	NM_004431.5(EPHA2):c.*213C>T	noncoding	Benign
1	16125049	C	T	C16125049T	EPHA2	NM_004431.5(EPHA2):c.*166G>A	noncoding	Benign
1	16125227	C	T	C16125227T	EPHA2	NM_004431.5(EPHA2):c.2919G>A:p.Gly973=	coding	Benign
1	16125271	C	T	C16125271T	EPHA2	NM_004431.5(EPHA2):c.2875G>A:p.Ala959Thr	coding	Benign/Likely_benign
1	16125272	G	A	G16125272A	EPHA2	NM_004431.5(EPHA2):c.2874C>T:p.Ile958=	coding	Benign
1	16125304	C	A	C16125304A	EPHA2	NM_004431.5(EPHA2):c.2842G>T:p.Gly948Trp	coding	Pathogenic
1	16125329	C	T	C16125329T	EPHA2	NM_004431.5(EPHA2):c.2826-9G>A	noncoding	Pathogenic
1	16129440	G	A	G16129440A	EPHA2	NM_004431.5(EPHA2):c.2819C>T:p.Thr940Ile	coding	Pathogenic
1	16129529	G	A	G16129529A	EPHA2	NM_004431.5(EPHA2):c.2730C>T:p.Ser910=	coding	Benign
1	16130268	C	T	C16130268T	EPHA2	NM_004431.5(EPHA2):c.2627G>A:p.Arg876His	coding	Benign
1	16130381	T	C	T16130381C	EPHA2	NM_004431.5(EPHA2):c.2514A>G:p.Thr838=	coding	Benign
1	16130424	C	T	C16130424T	EPHA2	NM_004431.5(EPHA2):c.2476-5G>A	noncoding	Benign
1	16131733	C	T	C16131733T	EPHA2	NM_004431.5(EPHA2):c.2463G>A:p.Leu821=	coding	Benign
1	16131822	G	T	G16131822T	EPHA2	NM_004431.5(EPHA2):c.2374C>A:p.Arg792=	coding	Benign
1	16131844	G	A	G16131844A	EPHA2	NM_004431.5(EPHA2):c.2352C>T:p.Thr784=	coding	Benign
1	16132393	C	T	C16132393T	EPHA2	NM_004431.5(EPHA2):c.2100G>A:p.Leu700=	coding	Benign
1	16132396	G	A	G16132396A	EPHA2	NM_004431.5(EPHA2):c.2097C>T:p.Ala699=	coding	Benign
1	16133199	T	C	T16133199C	EPHA2	NM_004431.5(EPHA2):c.2034A>G:p.Leu678=	coding	Benign
1	16133203	C	T	C16133203T	EPHA2	NM_004431.5(EPHA2):c.2030G>A:p.Arg677His	coding	Benign
1	16133249	C	T	C16133249T	EPHA2	NM_004431.5(EPHA2):c.1984G>A:p.Gly662Ser	coding	Benign
1	16133250	G	A	G16133250A	EPHA2	NM_004431.5(EPHA2):c.1983C>T:p.Leu661=	coding	Benign
1	16133292	C	A	C16133292A	EPHA2	NM_004431.5(EPHA2):c.1941G>T:p.Thr647=	coding	Benign
1	16133337	C	T	C16133337T	EPHA2	NM_004431.5(EPHA2):c.1896G>A:p.Leu632=	coding	Benign
1	16133341	A	G	A16133341G	EPHA2	NM_004431.5(EPHA2):c.1892T>C:p.Met631Thr	coding	Benign
1	16133469	G	A	G16133469A	EPHA2	NM_004431.5(EPHA2):c.1864+12C>T	noncoding	Benign
1	16133844	G	A	G16133844A	EPHA2	NM_004431.5(EPHA2):c.1738+16C>T	noncoding	Benign
1	16133878	C	T	C16133878T	EPHA2	NM_004431.5(EPHA2):c.1720G>A:p.Val574Ile	coding	Benign
1	16134485	G	A	G16134485A	EPHA2	NM_004431.5(EPHA2):c.1665C>T:p.Gly555=	coding	Benign
1	16134529	C	T	C16134529T	EPHA2	NM_004431.5(EPHA2):c.1621G>A:p.Val541Met	coding	Benign
1	16134542	C	T	C16134542T	EPHA2	NM_004431.5(EPHA2):c.1608G>A:p.Ala536=	coding	Benign
1	16135086	G	A	G16135086A	EPHA2	NM_004431.5(EPHA2):c.1532C>T:p.Thr511Met	coding	Benign
1	16135106	C	A	C16135106A	EPHA2	NM_004431.5(EPHA2):c.1512G>T:p.Leu504=	coding	Benign
1	16135132	C	T	C16135132T	EPHA2	NM_004431.5(EPHA2):c.1486G>A:p.Asp496Asn	coding	Benign
1	16135676	G	A	G16135676A	EPHA2	NM_004431.5(EPHA2):c.1407C>T:p.Tyr469=	coding	Benign
1	16135724	G	A	G16135724A	EPHA2	NM_004431.5(EPHA2):c.1359C>T:p.Ser453=	coding	Benign
1	16135769	C	T	C16135769T	EPHA2	NM_004431.5(EPHA2):c.1314G>A:p.Glu438=	coding	Benign
1	16137950	G	A	G16137950A	EPHA2	NM_004431.5(EPHA2):c.1215C>T:p.His405=	coding	Benign
1	16137994	C	T	C16137994T	EPHA2	NM_004431.5(EPHA2):c.1171G>A:p.Gly391Arg	coding	Benign
1	16137995	G	A	G16137995A	EPHA2	NM_004431.5(EPHA2):c.1170C>T:p.His390=	coding	Benign
1	16138117	G	T	G16138117T	EPHA2	NM_004431.5(EPHA2):c.1048C>A:p.Pro350Thr	coding	Benign
1	16138119	G	A	G16138119A	EPHA2	NM_004431.5(EPHA2):c.1046C>T:p.Thr349Met	coding	Benign
1	16138178	G	A	G16138178A	EPHA2	NM_004431.5(EPHA2):c.987C>T:p.Pro329=	coding	Benign
1	16138424	G	A	G16138424A	EPHA2	NM_004431.5(EPHA2):c.830C>T:p.Ser277Leu	coding	Benign
1	16138441	C	T	C16138441T	EPHA2	NM_004431.5(EPHA2):c.824-11G>A	noncoding	Benign
1	16148442	C	T	C16148442T	EPHA2	NM_004431.5(EPHA2):c.759G>A:p.Trp253Ter	coding	Pathogenic
1	16148487	C	G	C16148487G	EPHA2	NM_004431.5(EPHA2):c.714G>C:p.Pro238=	coding	Benign
1	16148506	T	C	T16148506C	EPHA2	NM_004431.5(EPHA2):c.695A>G:p.Asp232Gly	coding	Benign
1	16148553	G	A	G16148553A	EPHA2	NM_004431.5(EPHA2):c.648C>T:p.Ala216=	coding	Benign
1	16148595	G	A	G16148595A	EPHA2	NM_004431.5(EPHA2):c.606C>T:p.Pro202=	coding	Benign/Likely_benign
1	16148628	C	T	C16148628T	EPHA2	NM_004431.5(EPHA2):c.573G>A:p.Leu191=	coding	Benign
1	16148631	C	T	C16148631T	EPHA2	NM_004431.5(EPHA2):c.570G>A:p.Ala190=	coding	Benign
1	16148678	G	A	G16148678A	EPHA2	NM_004431.5(EPHA2):c.523C>T:p.Arg175Cys	coding	Benign
1	16148694	G	A	G16148694A	EPHA2	NM_004431.5(EPHA2):c.507C>T:p.Ser169=	coding	Benign
1	16148708	C	T	C16148708T	EPHA2	NM_004431.5(EPHA2):c.493G>A:p.Val165Met	coding	Benign
1	16148748	G	A	G16148748A	EPHA2	NM_004431.5(EPHA2):c.453C>T:p.Thr151=	coding	Benign
1	16149052	G	A	G16149052A	EPHA2	NM_004431.5(EPHA2):c.154-5C>T	noncoding	Benign
1	16150928	G	C	G16150928C	EPHA2	NM_004431.5(EPHA2):c.121C>G:p.Leu41Val	coding	Benign
1	16150972	G	A	G16150972A	EPHA2	NM_004431.5(EPHA2):c.86-9C>T	noncoding	Benign
1	16204768	C	T	C16204768T	ARHGEF19	NM_153213.5(ARHGEF19):c.1898G>A:p.Arg633Gln	coding	Benign
1	16440791	C	G	C16440791G	NECAP2	NM_018090.5(NECAP2):c.30C>G:p.Leu10=	coding	Benign
1	16930289	A	G	A16930289G	CROCC	NM_014675.5(CROCC):c.625A>G:p.Thr209Ala	coding	Benign
1	16945494	G	A	G16945494A	CROCC	NM_014675.5(CROCC):c.2024G>A:p.Arg675His	coding	Benign
1	16945542	G	A	G16945542A	CROCC	NM_014675.5(CROCC):c.2072G>A:p.Arg691His	coding	Benign
1	16970705	C	T	C16970705T	CROCC	NM_014675.5(CROCC):c.5722C>T:p.Arg1908Cys	coding	Benign
1	16985990	C	T	C16985990T	ATP13A2	NM_022089.4(ATP13A2):c.*231G>A	coding	Benign
1	16986081	G	C	G16986081C	ATP13A2	NM_022089.4(ATP13A2):c.*140C>G	coding	Benign
1	16986097	G	A	G16986097A	ATP13A2	NM_022089.4(ATP13A2):c.*124C>T	coding	Benign
1	16986248	C	T	C16986248T	ATP13A2	NM_022089.4(ATP13A2):c.3516G>A:p.Pro1172=	coding	Benign
1	16986334	C	T	C16986334T	ATP13A2	NM_022089.4(ATP13A2):c.3430G>A:p.Ala1144Thr	coding	Benign
1	16986346	G	A	G16986346A	ATP13A2	NM_022089.4(ATP13A2):c.3418C>T:p.Gln1140Ter	coding	Pathogenic
1	16986662	G	A	G16986662A	ATP13A2	NM_022089.4(ATP13A2):c.3236-30C>T	noncoding	Benign
1	16986788	C	T	C16986788T	ATP13A2	NM_022089.4(ATP13A2):c.3235+17G>A	noncoding	Benign
1	16986848	G	A	G16986848A	ATP13A2	NM_022089.4(ATP13A2):c.3192C>T:p.Ala1064=	coding	Benign
1	16986896	G	C	G16986896C	ATP13A2	NM_022089.4(ATP13A2):c.3144C>G:p.Thr1048=	coding	Benign/Likely_benign
1	16986953	G	A	G16986953A	ATP13A2	NM_022089.4(ATP13A2):c.3087C>T:p.Phe1029=	coding	Benign
1	16986959	G	A	G16986959A	ATP13A2	NM_022089.4(ATP13A2):c.3084-3C>T	noncoding	Benign
1	16987159	C	T	C16987159T	ATP13A2	NM_022089.4(ATP13A2):c.2970G>A:p.Val990=	coding	Benign
1	16988207	C	T	C16988207T	ATP13A2	NM_022089.4(ATP13A2):c.2790G>A:p.Ser930=	coding	Benign
1	16988250	C	T	C16988250T	ATP13A2	NM_022089.4(ATP13A2):c.2763-16G>A	noncoding	Benign
1	16988293	C	T	C16988293T	ATP13A2	NM_022089.4(ATP13A2):c.2762+29G>A	noncoding	Benign
1	16988360	C	T	C16988360T	ATP13A2	NM_022089.4(ATP13A2):c.2724G>A:p.Ser908=	coding	Benign/Likely_benign
1	16988447	G	A	G16988447A	ATP13A2	NM_022089.4(ATP13A2):c.2637C>T:p.Gly879=	coding	Benign
1	16988455	C	T	C16988455T	ATP13A2	NM_022089.4(ATP13A2):c.2629G>A:p.Gly877Arg	coding	Pathogenic
1	16989739	A	C	A16989739C	ATP13A2	NM_022089.4(ATP13A2):c.2561T>G:p.Met854Arg	coding	Pathogenic
1	16989878	C	T	C16989878T	ATP13A2	NM_022089.4(ATP13A2):c.2529+9G>A	noncoding	Benign/Likely_benign
1	16989961	G	A	G16989961A	ATP13A2	NM_022089.4(ATP13A2):c.2455C>T:p.Arg819Ter	coding	Pathogenic
1	16990172	G	A	G16990172A	ATP13A2	NM_022089.4(ATP13A2):c.2367C>T:p.Leu789=	coding	Benign/Likely_benign
1	16990191	C	T	C16990191T	ATP13A2	NM_022089.4(ATP13A2):c.2348G>A:p.Arg783Gln	coding	Benign/Likely_benign
1	16992042	A	G	A16992042G	ATP13A2	NM_022089.4(ATP13A2):c.2093T>C:p.Val698Ala	coding	Benign
1	16992345	G	A	G16992345A	ATP13A2	NM_022089.4(ATP13A2):c.1903C>T:p.Gln635Ter	coding	Pathogenic
1	16992516	G	A	G16992516A	ATP13A2	NM_022089.4(ATP13A2):c.1815C>T:p.Pro605=	coding	Benign
1	16993721	G	A	G16993721A	ATP13A2	NM_022089.4(ATP13A2):c.1657C>T:p.Arg553Ter	coding	Pathogenic
1	16993761	C	A	C16993761A	ATP13A2	NM_022089.4(ATP13A2):c.1617G>T:p.Leu539=	coding	Benign
1	16993764	G	A	G16993764A	ATP13A2	NM_022089.4(ATP13A2):c.1614C>T:p.Pro538=	coding	Benign/Likely_benign
1	16993828	G	A	G16993828A	ATP13A2	NM_022089.4(ATP13A2):c.1550C>T:p.Thr517Ile	coding	Pathogenic
1	16995982	G	A	G16995982A	ATP13A2	NM_022089.4(ATP13A2):c.1536C>T:p.Phe512=	coding	Benign/Likely_benign
1	16996008	C	G	C16996008G	ATP13A2	NM_022089.4(ATP13A2):c.1510G>C:p.Gly504Arg	coding	Pathogenic
1	16996059	G	A	G16996059A	ATP13A2	NM_022089.4(ATP13A2):c.1459C>T:p.Arg487Ter	coding	Pathogenic
1	16996262	G	A	G16996262A	ATP13A2	NM_022089.4(ATP13A2):c.1345C>T:p.Arg449Ter	coding	Pathogenic
1	16996381	C	T	C16996381T	ATP13A2	NM_022089.4(ATP13A2):c.1306+5G>A	noncoding	Pathogenic
1	16997010	C	T	C16997010T	ATP13A2	NM_022089.4(ATP13A2):c.1195+10G>A	noncoding	Benign/Likely_benign
1	16997011	G	A	G16997011A	ATP13A2	NM_022089.4(ATP13A2):c.1195+9C>T	noncoding	Benign
1	17000045	G	A	G17000045A	ATP13A2	NM_022089.4(ATP13A2):c.1005C>T:p.Ala335=	coding	Benign
1	17000272	C	T	C17000272T	ATP13A2	NM_022089.4(ATP13A2):c.881G>A:p.Arg294Gln	coding	Benign/Likely_benign
1	17001806	T	C	T17001806C	ATP13A2	NM_022089.4(ATP13A2):c.705+228A>G	noncoding	Benign
1	17004399	G	A	G17004399A	ATP13A2	NM_022089.4(ATP13A2):c.490C>T:p.Arg164Trp	coding	Pathogenic
1	17004716	G	A	G17004716A	ATP13A2	NM_022089.4(ATP13A2):c.453C>T:p.Ser151=	coding	Benign
1	17004805	G	A	G17004805A	ATP13A2	NM_022089.4(ATP13A2):c.364C>T:p.Gln122Ter	coding	Pathogenic
1	17005450	C	T	C17005450T	ATP13A2	NM_022089.4(ATP13A2):c.212G>A:p.Trp71Ter	coding	Pathogenic
1	17005517	C	T	C17005517T	ATP13A2	NM_022089.4(ATP13A2):c.145G>A:p.Gly49Ser	coding	Benign
1	17005530	T	C	T17005530C	ATP13A2	NM_022089.4(ATP13A2):c.132A>G:p.Pro44=	coding	Benign/Likely_benign
1	17005561	G	A	G17005561A	ATP13A2	NM_022089.4(ATP13A2):c.106-5C>T	noncoding	Benign/Likely_benign
1	17005570	G	A	G17005570A	ATP13A2	NM_022089.4(ATP13A2):c.106-14C>T	noncoding	Benign
1	17022595	C	T	C17022595T	SDHB	NM_003000.2(SDHB):c.765+13G>A	noncoding	Benign/Likely_benign
1	17022637	T	A	T17022637A	SDHB	NM_003000.2(SDHB):c.736A>T:p.Ile246Phe	coding	Pathogenic
1	17022648	C	T	C17022648T	SDHB	NM_003000.2(SDHB):c.725G>A:p.Arg242His	coding	Pathogenic
1	17022649	G	A	G17022649A	SDHB	NM_003000.2(SDHB):c.724C>T:p.Arg242Cys	coding	Pathogenic
1	17022649	G	T	G17022649T	SDHB	NM_003000.2(SDHB):c.724C>A:p.Arg242Ser	coding	Pathogenic
1	17022676	T	A	T17022676A	SDHB	NM_003000.2(SDHB):c.697A>T:p.Lys233Ter	coding	Pathogenic
1	17022684	C	A	C17022684A	SDHB	NM_003000.2(SDHB):c.689G>T:p.Arg230Leu	coding	Pathogenic/Likely_pathogenic
1	17022684	C	T	C17022684T	SDHB	NM_003000.2(SDHB):c.689G>A:p.Arg230His	coding	Pathogenic/Likely_pathogenic
1	17022685	G	A	G17022685A	SDHB	NM_003000.2(SDHB):c.688C>T:p.Arg230Cys	coding	Pathogenic
1	17022719	C	T	C17022719T	SDHB	NM_003000.2(SDHB):c.654G>A:p.Trp218Ter	coding	Pathogenic
1	17022720	C	T	C17022720T	SDHB	NM_003000.2(SDHB):c.653G>A:p.Trp218Ter	coding	Pathogenic
1	17023648	G	A	G17023648A	SDHB	NM_003000.3(SDHB):c.642+325C>T	noncoding	Benign
1	17023971	A	C	A17023971C	SDHB	NM_003000.2(SDHB):c.642+2T>G	noncoding	Pathogenic/Likely_pathogenic
1	17023972	C	T	C17023972T	SDHB	NM_003000.2(SDHB):c.642+1G>A	noncoding	Pathogenic
1	17023975	G	A	G17023975A	SDHB	NM_003000.2(SDHB):c.640C>T:p.Gln214Ter	coding	Pathogenic
1	17024013	C	T	C17024013T	SDHB	NM_003000.2(SDHB):c.602G>A:p.Trp201Ter	coding	Pathogenic
1	17024015	C	A	C17024015A	SDHB	NM_003000.2(SDHB):c.600G>T:p.Trp200Cys	coding	Pathogenic
1	17024015	C	T	C17024015T	SDHB	NM_003000.3(SDHB):c.600G>A:p.Trp200Ter	coding	Pathogenic/Likely_pathogenic
1	17024028	C	T	C17024028T	SDHB	NM_003000.2(SDHB):c.587G>A:p.Cys196Tyr	coding	Pathogenic
1	17024040	C	T	C17024040T	SDHB	NM_003000.2(SDHB):c.575G>A:p.Cys192Tyr	coding	Pathogenic
1	17024041	A	G	A17024041G	SDHB	NM_003000.2(SDHB):c.574T>C:p.Cys192Arg	coding	Pathogenic
1	17024062	C	A	C17024062A	SDHB	NM_003000.2(SDHB):c.553G>T:p.Glu185Ter	coding	Pathogenic
1	17024075	C	A	C17024075A	SDHB	NM_003000.3(SDHB):c.541-1G>T	coding	Pathogenic
1	17024076	T	C	T17024076C	SDHB	NM_003000.2(SDHB):c.541-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	17027763	C	A	C17027763A	SDHB	NM_003000.2(SDHB):c.526G>T:p.Glu176Ter	coding	Pathogenic
1	17027784	G	A	G17027784A	SDHB	NM_003000.2(SDHB):c.505C>T:p.Gln169Ter	coding	Pathogenic
1	17027787	G	A	G17027787A	SDHB	NM_003000.2(SDHB):c.502C>T:p.Gln168Ter	coding	Pathogenic
1	17027790	T	A	T17027790A	SDHB	NM_003000.2(SDHB):c.499A>T:p.Lys167Ter	coding	Pathogenic
1	17027799	G	A	G17027799A	SDHB	NM_003000.2(SDHB):c.490C>T:p.Gln164Ter	coding	Pathogenic
1	17027844	G	A	G17027844A	SDHB	NM_003000.2(SDHB):c.445C>T:p.Gln149Ter	coding	Pathogenic
1	17027848	A	C	A17027848C	SDHB	NM_003000.2(SDHB):c.441T>G:p.Tyr147Ter	coding	Pathogenic
1	17027866	C	T	C17027866T	SDHB	NM_003000.2(SDHB):c.424-1G>A	coding	Pathogenic/Likely_pathogenic
1	17028599	C	G	C17028599G	SDHB	NM_003000.2(SDHB):c.423+1G>C	noncoding	Pathogenic
1	17028599	C	T	C17028599T	SDHB	NM_003000.2(SDHB):c.423+1G>A	noncoding	Pathogenic
1	17028605	C	A	C17028605A	SDHB	NM_003000.2(SDHB):c.418G>T:p.Val140Phe	coding	Pathogenic/Likely_pathogenic
1	17028643	A	C	A17028643C	SDHB	NM_003000.2(SDHB):c.380T>G:p.Ile127Ser	coding	Pathogenic/Likely_pathogenic
1	17028649	G	C	G17028649C	SDHB	NM_003000.2(SDHB):c.374C>G:p.Ser125Ter	coding	Pathogenic
1	17028649	G	T	G17028649T	SDHB	NM_003000.2(SDHB):c.374C>A:p.Ser125Ter	coding	Pathogenic
1	17028680	G	A	G17028680A	SDHB	NM_003000.3(SDHB):c.343C>T:p.Arg115Ter	coding	Pathogenic
1	17028685	C	T	C17028685T	SDHB	NM_003000.3(SDHB):c.338G>A:p.Cys113Tyr	coding	Pathogenic
1	17028721	C	T	C17028721T	SDHB	NM_003000.2(SDHB):c.302G>A:p.Cys101Tyr	coding	Pathogenic
1	17028723	A	G	A17028723G	SDHB	NM_003000.3(SDHB):c.300T>C:p.Ser100=	coding	Benign/Likely_benign
1	17028737	C	G	C17028737G	SDHB	NM_003000.3(SDHB):c.287-1G>C	coding	Pathogenic/Likely_pathogenic
1	17028738	T	C	T17028738C	SDHB	NM_003000.2(SDHB):c.287-2A>G	noncoding	Pathogenic
1	17033058	A	T	A17033058T	SDHB	NM_003000.2(SDHB):c.286+2T>A	noncoding	Pathogenic
1	17033059	C	T	C17033059T	SDHB	NM_003000.2(SDHB):c.286+1G>A	noncoding	Pathogenic
1	17033071	G	T	G17033071T	SDHB	NM_003000.2(SDHB):c.275C>A:p.Ser92Ter	coding	Pathogenic
1	17033072	A	G	A17033072G	SDHB	NM_003000.2(SDHB):c.274T>C:p.Ser92Pro	coding	Pathogenic
1	17033075	T	A	T17033075A	SDHB	NM_003000.2(SDHB):c.271A>T:p.Arg91Ter	coding	Pathogenic
1	17033078	G	A	G17033078A	SDHB	NM_003000.3(SDHB):c.268C>T:p.Arg90Ter	coding	Pathogenic
1	17033181	C	A	C17033181A	SDHB	NM_003000.2(SDHB):c.201-36G>T	noncoding	Benign
1	17044726	C	T	C17044726T	SDHB	NM_003000.3(SDHB):c.200+35G>A	noncoding	Benign
1	17044728	C	T	C17044728T	SDHB	NM_003000.2(SDHB):c.200+33G>A	noncoding	Benign
1	17044778	A	C	A17044778C	SDHB	NM_003000.2(SDHB):c.183T>G:p.Tyr61Ter	coding	Pathogenic
1	17044791	T	C	T17044791C	SDHB	NM_003000.3(SDHB):c.170A>G:p.His57Arg	coding	Benign/Likely_benign
1	17044803	C	T	C17044803T	SDHB	NM_003000.2(SDHB):c.158G>A:p.Gly53Glu	coding	Benign/Likely_benign
1	17044820	C	T	C17044820T	SDHB	NM_003000.2(SDHB):c.141G>A:p.Trp47Ter	coding	Pathogenic
1	17044824	C	T	C17044824T	SDHB	NM_003000.3(SDHB):c.137G>A:p.Arg46Gln	coding	Pathogenic/Likely_pathogenic
1	17044825	G	A	G17044825A	SDHB	NM_003000.2(SDHB):c.136C>T:p.Arg46Ter	coding	Pathogenic
1	17044825	G	C	G17044825C	SDHB	NM_003000.2(SDHB):c.136C>G:p.Arg46Gly	coding	Pathogenic
1	17044826	A	C	A17044826C	SDHB	NM_003000.3(SDHB):c.135T>G:p.Tyr45Ter	coding	Pathogenic
1	17044882	G	A	G17044882A	SDHB	NM_003000.2(SDHB):c.79C>T:p.Arg27Ter	coding	Pathogenic
1	17044909	C	A	C17044909A	SDHB	NM_003000.3(SDHB):c.73-21G>T	noncoding	Benign
1	17053774	G	C	G17053774C	SDHB	NM_003000.2(SDHB):c.72+174C>G	noncoding	Benign
1	17053947	C	A	C17053947A	SDHB	NM_003000.2(SDHB):c.72+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	17053947	C	T	C17053947T	SDHB	NM_003000.2(SDHB):c.72+1G>A	noncoding	Pathogenic
1	17053950	G	A	G17053950A	SDHB	NM_003000.2(SDHB):c.70C>T:p.Gln24Ter	coding	Pathogenic
1	17053988	C	T	C17053988T	SDHB	NM_003000.3(SDHB):c.32G>A:p.Arg11His	coding	Benign/Likely_benign
1	17053994	A	T	A17053994T	SDHB	NM_003000.2(SDHB):c.26T>A:p.Leu9Ter	coding	Pathogenic
1	17053996	G	A	G17053996A	SDHB	NM_003000.2(SDHB):c.24C>T:p.Ser8=	coding	Benign/Likely_benign
1	17054002	G	T	G17054002T	SDHB	NM_003000.3(SDHB):c.18C>A:p.Ala6=	coding	Benign
1	17054012	G	C	G17054012C	SDHB	NM_003000.3(SDHB):c.8C>G:p.Ala3Gly	coding	Benign/Likely_benign
1	17054017	C	T	C17054017T	SDHB	NM_003000.2(SDHB):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
1	17054019	T	A	T17054019A	SDHB	NM_003000.2(SDHB):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
1	17054056	A	G	A17054056G	SDHB	NM_003000.2(SDHB):c.-37T>C	noncoding	Benign/Likely_benign
1	17054158	C	A	C17054158A	SDHB	NM_003000.2(SDHB):c.-139G>T	noncoding	Benign
1	17069161	G	A	G17069161A	PADI2	NM_007365.3(PADI2):c.1881C>T:p.Leu627=	coding	Benign
1	17069170	G	A	G17069170A	PADI2	NM_007365.3(PADI2):c.1872C>T:p.Pro624=	coding	Benign
1	17075721	G	A	G17075721A	PADI2	NM_007365.3(PADI2):c.1413C>T:p.His471=	coding	Benign
1	17086632	G	A	G17086632A	PADI2	NM_007365.3(PADI2):c.723C>T:p.Tyr241=	coding	Benign
1	17102994	T	C	T17102994C	PADI2	NM_007365.3(PADI2):c.342A>G:p.Thr114=	coding	Benign
1	17244196	G	A	G17244196A	PADI1	NM_013358.3(PADI1):c.1945G>A:p.Val649Met	coding	Benign
1	17262194	T	A	T17262194A	PADI3	NM_016233.2(PADI3):c.335T>A:p.Leu112His	coding	Pathogenic
1	17267938	C	T	C17267938T	PADI3	NM_016233.2(PADI3):c.628C>T:p.Arg210Trp	coding	Pathogenic
1	17270877	A	G	A17270877G	PADI3	NM_016233.2(PADI3):c.832-2A>G	noncoding	Pathogenic
1	17270903	A	G	A17270903G	PADI3	NM_016233.2(PADI3):c.856A>G:p.Thr286Ala	coding	Pathogenic
1	17270928	C	T	C17270928T	PADI3	NM_016233.2(PADI3):c.881C>T:p.Ala294Val	coding	Pathogenic
1	17280704	C	T	C17280704T	PADI3	NM_016233.2(PADI3):c.1669C>T:p.Arg557Trp	coding	Pathogenic
1	17280779	G	A	G17280779A	PADI3	NM_016233.2(PADI3):c.1744G>A:p.Ala582Thr	coding	Pathogenic
1	17282897	C	A	C17282897A	PADI3	NM_016233.2(PADI3):c.1813C>A:p.Pro605Thr	coding	Pathogenic
1	17283039	G	A	G17283039A	PADI3	NM_016233.2(PADI3):c.1955G>A:p.Arg652Lys	coding	Pathogenic
1	17308245	G	A	G17308245A	PADI4	NM_012387.3(PADI4):c.23G>A:p.Arg8His	coding	Benign
1	17331097	T	C	T17331097C	PADI4	NM_012387.3(PADI4):c.221T>C:p.Val74Ala	coding	Benign
1	17331112	C	T	C17331112T	PADI4	NM_012387.3(PADI4):c.236C>T:p.Thr79Met	coding	Benign
1	17338127	C	T	C17338127T	PADI4	NM_012387.3(PADI4):c.498C>T:p.Cys166=	coding	Benign
1	17342013	C	T	C17342013T	PADI4	NM_012387.3(PADI4):c.723C>T:p.Pro241=	coding	Benign
1	17342393	A	G	A17342393G	PADI4	NM_012387.3(PADI4):c.926A>G:p.Tyr309Cys	coding	Benign
1	17382046	T	A	T17382046A	PADI6	NM_207421.4(PADI6):c.633T>A:p.His211Gln	coding	Pathogenic
1	17392121	C	T	C17392121T	PADI6	NM_207421.4(PADI6):c.970C>T:p.Gln324Ter	coding	Pathogenic
1	17394041	C	T	C17394041T	PADI6	NM_207421.4(PADI6):c.1141C>T:p.Gln381Ter	coding	Pathogenic
1	17395663	G	A	G17395663A	PADI6	NM_207421.4(PADI6):c.1618G>A:p.Gly540Arg	coding	Pathogenic
1	17395867	G	A	G17395867A	PADI6	NM_207421.4(PADI6):c.1618+204G>A	noncoding	Benign
1	17602183	G	A	G17602183A	ARHGEF10L	NM_018125.4(ARHGEF10L):c.314G>A:p.Arg105Gln	coding	Benign
1	17622992	G	T	G17622992T	ARHGEF10L	NM_018125.4(ARHGEF10L):c.1021-4G>T	noncoding	Benign
1	17623185	C	T	C17623185T	ARHGEF10L	NM_018125.4(ARHGEF10L):c.1200+10C>T	noncoding	Benign
1	17625982	T	C	T17625982C	ARHGEF10L	NM_018125.4(ARHGEF10L):c.1344T>C:p.Arg448=	coding	Benign
1	17632449	T	C	T17632449C	ARHGEF10L	NM_018125.4(ARHGEF10L):c.1713T>C:p.Cys571=	coding	Benign
1	17634901	G	A	G17634901A	ARHGEF10L	NM_018125.4(ARHGEF10L):c.1812G>A:p.Ala604=	coding	Benign
1	17696908	C	T	C17696908T	ARHGEF10L	NM_018125.4(ARHGEF10L):c.3368C>T:p.Thr1123Ile	coding	Benign
1	17697204	C	T	C17697204T	ARHGEF10L	NM_018125.4(ARHGEF10L):c.3664C>T:p.Arg1222Cys	coding	Benign
1	18365416	G	A	G18365416A	IGSF21	NM_032880.5(IGSF21):c.734G>A:p.Arg245His	coding	Benign
1	18376834	C	T	C18376834T	IGSF21	NM_032880.5(IGSF21):c.1136C>T:p.Thr379Met	coding	Benign
1	18376985	C	T	C18376985T	IGSF21	NM_032880.5(IGSF21):c.1287C>T:p.Ile429=	coding	Benign
1	18481360	G	T	G18481360T	KLHDC7A	NM_152375.2(KLHDC7A):c.379G>T:p.Gly127Cys	coding	Benign
1	18481735	C	T	C18481735T	KLHDC7A	NM_152375.2(KLHDC7A):c.754C>T:p.Gln252Ter	coding	Benign
1	18482525	A	G	A18482525G	KLHDC7A	NM_152375.2(KLHDC7A):c.1544A>G:p.Gln515Arg	coding	Benign
1	18634302	G	A	G18634302A	PAX7	NM_001135254.2(PAX7):c.86-1G>A	noncoding	Pathogenic
1	18634383	C	T	C18634383T	PAX7	NM_001135254.2(PAX7):c.166C>T:p.Arg56Cys	coding	Pathogenic
1	18635197	G	A	G18635197A	PAX7	NM_001135254.2(PAX7):c.408G>A:p.Arg136=	coding	Benign
1	18635222	C	T	C18635222T	PAX7	NM_001135254.2(PAX7):c.433C>T:p.Arg145Ter	coding	Pathogenic
1	18691821	A	C	A18691821C	PAX7	NM_001135254.2(PAX7):c.654A>C:p.Arg218=	coding	Benign
1	18691944	G	A	G18691944A	PAX7	NM_001135254.2(PAX7):c.777G>A:p.Ala259=	coding	Benign
1	18700673	C	T	C18700673T	PAX7	NM_001135254.2(PAX7):c.807C>T:p.Arg269=	coding	Benign
1	18703305	T	C	T18703305C	PAX7	NM_001135254.2(PAX7):c.1155+9T>C	noncoding	Benign
1	18839884	G	A	G18839884A	TAS1R2	NM_152232.3(TAS1R2):c.2235C>T:p.Phe745=	coding	Benign
1	18841860	G	A	G18841860A	TAS1R2	NM_152232.3(TAS1R2):c.1468-8C>T	noncoding	Benign
1	18849479	G	A	G18849479A	TAS1R2	NM_152232.3(TAS1R2):c.1329C>T:p.Asp443=	coding	Benign
1	18859599	G	A	G18859599A	TAS1R2	NM_152232.3(TAS1R2):c.62C>T:p.Pro21Leu	coding	Benign
1	18871570	T	G	T18871570G	ALDH4A1	NM_003748.4(ALDH4A1):c.*1275A>C	noncoding	Benign
1	18871606	C	G	C18871606G	ALDH4A1	NM_003748.4(ALDH4A1):c.*1239G>C	noncoding	Benign
1	18871647	T	C	T18871647C	ALDH4A1	NM_003748.4(ALDH4A1):c.*1198A>G	noncoding	Benign
1	18871920	G	A	G18871920A	ALDH4A1	NM_003748.4(ALDH4A1):c.*925C>T	noncoding	Benign
1	18871924	C	T	C18871924T	ALDH4A1	NM_003748.4(ALDH4A1):c.*921G>A	noncoding	Benign
1	18872082	A	G	A18872082G	ALDH4A1	NM_003748.4(ALDH4A1):c.*763T>C	noncoding	Benign
1	18872133	G	A	G18872133A	ALDH4A1	NM_003748.4(ALDH4A1):c.*712C>T	noncoding	Benign
1	18872143	G	A	G18872143A	ALDH4A1	NM_003748.4(ALDH4A1):c.*702C>T	noncoding	Benign
1	18872343	T	C	T18872343C	ALDH4A1	NM_003748.4(ALDH4A1):c.*502A>G	noncoding	Benign
1	18872401	A	G	A18872401G	ALDH4A1	NM_003748.4(ALDH4A1):c.*444T>C	noncoding	Benign
1	18872727	C	T	C18872727T	ALDH4A1	NM_003748.4(ALDH4A1):c.*118G>A	noncoding	Benign
1	18872906	G	A	G18872906A	ALDH4A1	NM_003748.4(ALDH4A1):c.1631C>T:p.Pro544Leu	coding	Benign/Likely_benign
1	18874494	G	A	G18874494A	ALDH4A1	NM_003748.4(ALDH4A1):c.1548C>T:p.Gly516=	coding	Benign
1	18875425	T	C	T18875425C	ALDH4A1	NM_003748.4(ALDH4A1):c.1417A>G:p.Thr473Ala	coding	Benign
1	18875434	C	T	C18875434T	ALDH4A1	NM_003748.4(ALDH4A1):c.1408G>A:p.Val470Ile	coding	Benign
1	18875462	A	G	A18875462G	ALDH4A1	NM_003748.4(ALDH4A1):c.1380T>C:p.Asp460=	coding	Benign
1	18876402	G	A	G18876402A	ALDH4A1	NM_003748.4(ALDH4A1):c.1251C>T:p.Ala417=	coding	Benign
1	18876423	T	C	T18876423C	ALDH4A1	NM_003748.4(ALDH4A1):c.1230A>G:p.Ser410=	coding	Benign
1	18876432	T	C	T18876432C	ALDH4A1	NM_003748.4(ALDH4A1):c.1221A>G:p.Ala407=	coding	Benign
1	18877231	A	G	A18877231G	ALDH4A1	NM_003748.4(ALDH4A1):c.1162T>C:p.Phe388Leu	coding	Benign/Likely_benign
1	18877467	C	T	C18877467T	ALDH4A1	NM_003748.4(ALDH4A1):c.1086G>A:p.Pro362=	coding	Benign/Likely_benign
1	18877498	G	A	G18877498A	ALDH4A1	NM_003748.4(ALDH4A1):c.1055C>T:p.Ser352Leu	coding	Pathogenic
1	18877503	C	G	C18877503G	ALDH4A1	NM_003748.4(ALDH4A1):c.1050G>C:p.Ala350=	coding	Benign
1	18881822	G	A	G18881822A	ALDH4A1	NM_003748.4(ALDH4A1):c.744C>T:p.Ile248=	coding	Benign/Likely_benign
1	18883298	G	A	G18883298A	ALDH4A1	NM_003748.4(ALDH4A1):c.584C>T:p.Thr195Met	coding	Benign/Likely_benign
1	18885493	C	T	C18885493T	ALDH4A1	NM_003748.4(ALDH4A1):c.433G>A:p.Ala145Thr	coding	Benign/Likely_benign
1	18889386	C	T	C18889386T	ALDH4A1	NM_003748.4(ALDH4A1):c.225G>A:p.Thr75=	coding	Benign
1	18902477	G	A	G18902477A	ALDH4A1	NM_003748.4(ALDH4A1):c.47C>T:p.Pro16Leu	coding	Benign/Likely_benign
1	19078075	G	C	G19078075C	UBR4	NM_020765.3(UBR4):c.15234-9C>G	noncoding	Benign
1	19084587	G	A	G19084587A	UBR4	NM_020765.3(UBR4):c.14925C>T:p.Ser4975=	coding	Benign
1	19104154	C	G	C19104154G	UBR4	NM_020765.3(UBR4):c.12831G>C:p.Val4277=	coding	Benign
1	19104190	A	G	A19104190G	UBR4	NM_020765.3(UBR4):c.12795T>C:p.Thr4265=	coding	Benign
1	19112532	G	T	G19112532T	UBR4	NM_020765.3(UBR4):c.11793C>A:p.Leu3931=	coding	Benign
1	19114017	C	T	C19114017T	UBR4	NM_020765.3(UBR4):c.11256G>A:p.Gln3752=	coding	Benign
1	19114916	G	A	G19114916A	UBR4	NM_020765.3(UBR4):c.11097C>T:p.Leu3699=	coding	Benign
1	19117382	C	T	C19117382T	UBR4	NM_020765.3(UBR4):c.10662G>A:p.Thr3554=	coding	Benign
1	19120275	C	T	C19120275T	UBR4	NM_020765.3(UBR4):c.10215G>A:p.Lys3405=	coding	Benign
1	19121199	C	T	C19121199T	UBR4	NM_020765.3(UBR4):c.10131G>A:p.Lys3377=	coding	Benign
1	19121388	G	A	G19121388A	UBR4	NM_020765.3(UBR4):c.9942C>T:p.Gly3314=	coding	Benign
1	19124682	A	T	A19124682T	UBR4	NM_020765.3(UBR4):c.9447T>A:p.Ala3149=	coding	Benign
1	19126617	T	C	T19126617C	UBR4	NM_020765.3(UBR4):c.9267A>G:p.Leu3089=	coding	Benign
1	19128202	A	G	A19128202G	UBR4	NM_020765.3(UBR4):c.9111+9T>C	noncoding	Benign
1	19146980	T	C	T19146980C	UBR4	NM_020765.3(UBR4):c.7650A>G:p.Lys2550=	coding	Benign
1	19147986	C	A	C19147986A	UBR4	NM_020765.3(UBR4):c.7629+7G>T	noncoding	Benign
1	19150702	C	T	C19150702T	UBR4	NM_020765.3(UBR4):c.7305G>A:p.Glu2435=	coding	Benign
1	19151857	G	A	G19151857A	UBR4	NM_020765.3(UBR4):c.6999C>T:p.Pro2333=	coding	Benign
1	19153305	T	C	T19153305C	UBR4	NM_020765.3(UBR4):c.6828A>G:p.Thr2276=	coding	Benign
1	19157805	G	A	G19157805A	UBR4	NM_020765.3(UBR4):c.5760+10C>T	noncoding	Benign
1	19157944	G	A	G19157944A	UBR4	NM_020765.3(UBR4):c.5631C>T:p.Tyr1877=	coding	Benign
1	19162618	G	A	G19162618A	UBR4	NM_020765.3(UBR4):c.4765-7C>T	noncoding	Benign
1	19165007	G	A	G19165007A	UBR4	NM_020765.3(UBR4):c.4313-10C>T	noncoding	Benign
1	19165646	C	T	C19165646T	UBR4	NM_020765.3(UBR4):c.4211+10G>A	noncoding	Benign
1	19167026	T	G	T19167026G	UBR4	NM_020765.3(UBR4):c.4105A>C:p.Asn1369His	coding	Benign
1	19172932	C	T	C19172932T	UBR4	NM_020765.3(UBR4):c.3453G>A:p.Ser1151=	coding	Benign
1	19173007	G	A	G19173007A	UBR4	NM_020765.3(UBR4):c.3378C>T:p.Ala1126=	coding	Benign
1	19173594	A	G	A19173594G	UBR4	NM_020765.3(UBR4):c.3010T>C:p.Leu1004=	coding	Benign
1	19176687	C	T	C19176687T	UBR4	NM_020765.3(UBR4):c.2678G>A:p.Ser893Asn	coding	Benign
1	19177633	G	C	G19177633C	UBR4	NM_020765.3(UBR4):c.2465C>G:p.Thr822Ser	coding	Benign
1	19185180	G	A	G19185180A	UBR4	NM_020765.3(UBR4):c.1857C>T:p.Ser619=	coding	Benign
1	19185258	T	C	T19185258C	UBR4	NM_020765.3(UBR4):c.1779A>G:p.Gln593=	coding	Benign
1	19187308	G	C	G19187308C	UBR4	NM_020765.3(UBR4):c.1495-7C>G	noncoding	Benign
1	19198660	C	A	C19198660A	UBR4	NM_020765.3(UBR4):c.529G>T:p.Ala177Ser	coding	Benign
1	19219399	G	A	G19219399A	EMC1	NM_015047.3(EMC1):c.2886C>T:p.Tyr962=	coding	Benign
1	19222836	T	C	T19222836C	EMC1	NM_015047.3(EMC1):c.2377-2A>G	noncoding	Pathogenic
1	19227428	C	T	C19227428T	EMC1	NM_015047.3(EMC1):c.2087G>A:p.Trp696Ter	coding	Pathogenic
1	19230854	C	T	C19230854T	EMC1	NM_015047.3(EMC1):c.2054G>A:p.Arg685Gln	coding	Benign
1	19231297	G	A	G19231297A	EMC1	NM_015047.3(EMC1):c.1908C>T:p.Tyr636=	coding	Benign
1	19231344	G	A	G19231344A	EMC1	NM_015047.3(EMC1):c.1861C>T:p.Arg621Cys	coding	Benign
1	19231418	G	A	G19231418A	EMC1	NM_015047.3(EMC1):c.1787C>T:p.Ser596Leu	coding	Benign
1	19238060	G	A	G19238060A	EMC1	NM_015047.3(EMC1):c.1169C>T:p.Thr390Met	coding	Benign
1	19239846	G	A	G19239846A	EMC1	NM_015047.3(EMC1):c.926C>T:p.Thr309Met	coding	Benign
1	19239914	A	C	A19239914C	EMC1	NM_015047.3(EMC1):c.858T>G:p.Ala286=	coding	Benign
1	19240289	C	T	C19240289T	EMC1	NM_015047.3(EMC1):c.786+8G>A	noncoding	Benign
1	19240364	G	A	G19240364A	EMC1	NM_015047.3(EMC1):c.719C>T:p.Pro240Leu	coding	Benign/Likely_benign
1	19245036	A	G	A19245036G	EMC1	NM_015047.3(EMC1):c.96-6T>C	noncoding	Benign
1	19282768	T	C	T19282768C	AKR7A3	NM_012067.3(AKR7A3):c.959A>G:p.His320Arg	coding	Benign
1	19285999	A	G	A19285999G	AKR7A3	NM_012067.3(AKR7A3):c.403-7T>C	noncoding	Benign
1	19308211	C	T	C19308211T	AKR7A2	NM_003689.3(AKR7A2):c.538G>A:p.Glu180Lys	coding	Benign
1	19665805	G	C	G19665805C	HTR6	NM_000871.3(HTR6):c.52G>C:p.Gly18Arg	coding	Benign
1	19666017	G	A	G19666017A	HTR6	NM_000871.3(HTR6):c.264G>A:p.Leu88=	coding	Benign
1	19666215	C	T	C19666215T	HTR6	NM_000871.3(HTR6):c.462C>T:p.Ala154=	coding	Benign
1	19666296	C	T	C19666296T	HTR6	NM_000871.3(HTR6):c.543C>T:p.Arg181=	coding	Benign
1	19679296	C	T	C19679296T	HTR6	NM_000871.3(HTR6):c.1251C>T:p.Ala417=	coding	Benign
1	19679341	G	A	G19679341A	HTR6	NM_000871.3(HTR6):c.1296G>A:p.Pro432=	coding	Benign
1	19978510	G	A	G19978510A	PLA2G2A	NM_000300.4(PLA2G2A):c.55C>T:p.His19Tyr	coding	Benign
1	19978756	C	T	C19978756T	PLA2G2A	NM_000300.4(PLA2G2A):c.18G>A:p.Leu6=	coding	Benign
1	20501113	C	T	C20501113T	MUL1	NM_024544.3(MUL1):c.636G>A:p.Pro212=	coding	Benign
1	20501194	G	A	G20501194A	MUL1	NM_024544.3(MUL1):c.555C>T:p.Thr185=	coding	Benign
1	20503316	A	T	A20503316T	MUL1	NM_024544.3(MUL1):c.121-7T>A	noncoding	Benign
1	20507996	C	T	C20507996T	MUL1	NM_024544.3(MUL1):c.29G>A:p.Cys10Tyr	coding	Benign
1	20604956	G	A	G20604956A	CDA	NM_001785.3(CDA):c.183G>A:p.Pro61=	coding	Benign
1	20604983	T	C	T20604983C	CDA	NM_001785.3(CDA):c.210T>C:p.Ala70=	coding	Benign
1	20633561	C	T	C20633561T	PINK1	NM_032409.3(PINK1):c.13C>T:p.Gln5Ter	coding	Pathogenic
1	20633737	C	T	C20633737T	PINK1	NM_032409.3(PINK1):c.189C>T:p.Leu63=	coding	Benign
1	20633892	A	T	A20633892T	PINK1	NM_032409.3(PINK1):c.344A>T:p.Gln115Leu	coding	Benign
1	20637835	A	G	A20637835G	PINK1	NM_032409.3(PINK1):c.388-7A>G	noncoding	Benign
1	20637956	G	C	G20637956C	PINK1	NM_032409.3(PINK1):c.502G>C:p.Ala168Pro	coding	Pathogenic
1	20638104	C	A	C20638104A	PINK1	NM_032409.3(PINK1):c.650C>A:p.Ala217Asp	coding	Pathogenic
1	20639952	C	T	C20639952T	PINK1	NM_032409.3(PINK1):c.736C>T:p.Arg246Ter	coding	Pathogenic
1	20639990	C	A	C20639990A	PINK1	NM_032409.3(PINK1):c.774C>A:p.Tyr258Ter	coding	Pathogenic
1	20644517	A	G	A20644517G	PINK1	NM_032409.3(PINK1):c.804A>G:p.Leu268=	coding	Benign
1	20644526	C	A	C20644526A	PINK1	NM_032409.3(PINK1):c.813C>A:p.His271Gln	coding	Pathogenic
1	20644549	G	A	G20644549A	PINK1	NM_032409.3(PINK1):c.836G>A:p.Arg279His	coding	Pathogenic
1	20644639	G	A	G20644639A	PINK1	NM_032409.3(PINK1):c.926G>A:p.Gly309Asp	coding	Pathogenic
1	20644651	C	T	C20644651T	PINK1	NM_032409.3(PINK1):c.938C>T:p.Thr313Met	coding	Pathogenic
1	20644661	C	T	C20644661T	PINK1	NM_032409.3(PINK1):c.948C>T:p.Leu316=	coding	Benign
1	20645555	G	A	G20645555A	PINK1	NM_032409.3(PINK1):c.960-5G>A	noncoding	Benign
1	20645618	G	A	G20645618A	PINK1	NM_032409.3(PINK1):c.1018G>A:p.Ala340Thr	coding	Benign
1	20645640	T	C	T20645640C	PINK1	NM_032409.3(PINK1):c.1040T>C:p.Leu347Pro	coding	Pathogenic
1	20648554	T	C	T20648554C	PINK1	NM_032409.3(PINK1):c.1173T>C:p.Asp391=	coding	Benign/Likely_benign
1	20649054	G	A	G20649054A	PINK1	NM_032409.3(PINK1):c.1311G>A:p.Trp437Ter	coding	Pathogenic
1	20649109	C	T	C20649109T	PINK1	NM_032409.3(PINK1):c.1366C>T:p.Gln456Ter	coding	Pathogenic
1	20649169	G	A	G20649169A	PINK1	NM_032409.3(PINK1):c.1426G>A:p.Glu476Lys	coding	Benign
1	20649217	C	T	C20649217T	PINK1	NM_032409.3(PINK1):c.1474C>T:p.Arg492Ter	coding	Pathogenic
1	20649232	G	A	G20649232A	PINK1	NM_032409.3(PINK1):c.1488+1G>A	coding	Pathogenic
1	20650447	G	A	G20650447A	PINK1	NM_032409.3(PINK1):c.1502G>A:p.Arg501Gln	coding	Benign
1	20650507	A	C	A20650507C	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.1562A>C:p.Asn521Thr	coding	Benign/Likely_benign
1	20650728	A	T	A20650728T	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*37A>T	noncoding	Benign
1	20650872	C	G	C20650872G	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*181C>G	noncoding	Benign
1	20650887	T	C	T20650887C	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*196T>C	noncoding	Benign/Likely_benign
1	20650956	G	T	G20650956T	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*265G>T	noncoding	Benign/Likely_benign
1	20651106	C	G	C20651106G	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*415C>G	noncoding	Benign/Likely_benign
1	20651181	A	C	A20651181C	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*490A>C	noncoding	Benign/Likely_benign
1	20651255	T	G	T20651255G	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*564T>G	noncoding	Benign/Likely_benign
1	20651363	T	C	T20651363C	DDOST;PINK1;PINK1-AS	NM_032409.3(PINK1):c.*672T>C	noncoding	Benign/Likely_benign
1	20652339	T	C	T20652339C	DDOST;PINK1	NM_005216.4(DDOST):c.*40A>G	noncoding	Benign
1	20652406	G	A	G20652406A	DDOST	NM_005216.4(DDOST):c.1344C>T:p.His448=	coding	Benign/Likely_benign
1	20652490	G	A	G20652490A	DDOST	NM_005216.4(DDOST):c.1260C>T:p.Arg420=	coding	Benign/Likely_benign
1	20652523	G	A	G20652523A	DDOST	NM_005216.4(DDOST):c.1227C>T:p.Ser409=	coding	Benign
1	20653676	C	T	C20653676T	DDOST	NM_005216.4(DDOST):c.944G>A:p.Arg315Gln	coding	Benign
1	20653738	G	A	G20653738A	DDOST;PINK1	NM_005216.4(DDOST):c.882C>T:p.Ala294=	coding	Benign/Likely_benign
1	20654241	G	A	G20654241A	DDOST	NM_005216.4(DDOST):c.827C>T:p.Ala276Val	coding	Benign/Likely_benign
1	20654306	G	A	G20654306A	DDOST	NM_005216.4(DDOST):c.762C>T:p.Arg254=	coding	Benign/Likely_benign
1	20654354	C	T	C20654354T	DDOST	NM_005216.4(DDOST):c.714G>A:p.Gly238=	coding	Benign
1	20654387	G	A	G20654387A	DDOST	NM_005216.4(DDOST):c.697-16C>T	noncoding	Benign
1	20654660	C	T	C20654660T	DDOST	NM_005216.4(DDOST):c.650G>A:p.Gly217Asp	coding	Pathogenic
1	20655658	G	A	G20655658A	DDOST	NM_005216.4(DDOST):c.507+18C>T	noncoding	Benign
1	20656138	G	A	G20656138A	DDOST;PINK1	NM_005216.4(DDOST):c.366C>T:p.Gly122=	coding	Benign
1	20660872	A	T	A20660872T	DDOST	NM_005216.4(DDOST):c.316+9T>A	noncoding	Benign
1	20661285	C	T	C20661285T	DDOST	NM_005216.4(DDOST):c.117G>A:p.Ala39=	coding	Benign
1	20661362	T	G	T20661362G	DDOST	NM_005216.4(DDOST):c.40A>C:p.Arg14=	coding	Benign
1	20670424	G	A	G20670424A	KIF17	NM_001122819.3(KIF17):c.2787C>T:p.Asn929=	coding	Benign
1	20685026	T	C	T20685026C	KIF17	NM_001122819.3(KIF17):c.2020-6A>G	noncoding	Benign
1	20690195	C	T	C20690195T	KIF17	NM_001122819.3(KIF17):c.1374G>A:p.Lys458=	coding	Benign
1	20715550	C	T	C20715550T	KIF17	NM_001122819.3(KIF17):c.321G>A:p.Pro107=	coding	Benign
1	20744866	T	C	T20744866C	HP1BP3	NM_001372052.1(HP1BP3):c.1593A>G:p.Ala531=	coding	Benign
1	20829186	A	G	A20829186G	EIF4G3	NM_001198801.2(EIF4G3):c.4088T>C:p.Met1363Thr	coding	Benign
1	21220008	G	A	G21220008A	ECE1	NM_001397.3(ECE1):c.2260C>T:p.Arg754Cys	coding	Pathogenic
1	21227230	G	T	G21227230T	ECE1	NM_001397.3(ECE1):c.1782-4C>A	noncoding	Benign
1	21228002	C	T	C21228002T	ECE1	NM_001397.3(ECE1):c.1710G>A:p.Ser570=	coding	Benign
1	21233587	A	G	A21233587G	ECE1	NM_001397.3(ECE1):c.1641T>C:p.Asp547=	coding	Benign
1	21238138	C	T	C21238138T	ECE1	NM_001397.3(ECE1):c.1385G>A:p.Ser462Asn	coding	Benign/Likely_benign
1	21244982	G	A	G21244982A	ECE1	NM_001397.3(ECE1):c.1278+7C>T	noncoding	Benign
1	21245077	T	C	T21245077C	ECE1	NM_001397.3(ECE1):c.1190A>G:p.Asn397Ser	coding	Benign
1	21245108	G	A	G21245108A	ECE1	NM_001397.3(ECE1):c.1164-5C>T	noncoding	Benign
1	21247229	G	A	G21247229A	ECE1	NM_001397.3(ECE1):c.1155C>T:p.Thr385=	coding	Benign
1	21247362	G	A	G21247362A	ECE1	NM_001397.3(ECE1):c.1022C>T:p.Thr341Ile	coding	Benign
1	21255932	C	T	C21255932T	ECE1	NM_001397.3(ECE1):c.1020+15G>A	noncoding	Benign
1	21257517	A	G	A21257517G	ECE1	NM_001397.3(ECE1):c.828+8T>C	noncoding	Benign
1	21260382	C	T	C21260382T	ECE1	NM_001397.3(ECE1):c.504G>A:p.Thr168=	coding	Benign
1	21560652	C	T	C21560652T	ALPL	NM_000478.6(ALPL):c.88C>T:p.Arg30Ter	coding	Pathogenic/Likely_pathogenic
1	21560662	C	T	C21560662T	ALPL	NM_000478.6(ALPL):c.98C>T:p.Ala33Val	coding	Pathogenic
1	21561127	G	C	G21561127C	ALPL	NM_000478.6(ALPL):c.212G>C:p.Arg71Pro	coding	Pathogenic
1	21561130	T	C	T21561130C	ALPL	NM_000478.6(ALPL):c.215T>C:p.Ile72Thr	coding	Pathogenic/Likely_pathogenic
1	21563135	C	T	C21563135T	ALPL	NM_000478.6(ALPL):c.323C>T:p.Pro108Leu	coding	Pathogenic
1	21563142	T	C	T21563142C	ALPL	NM_000478.6(ALPL):c.330T>C:p.Ser110=	coding	Benign
1	21563158	G	A	G21563158A	ALPL	NM_000478.6(ALPL):c.346G>A:p.Ala116Thr	coding	Pathogenic/Likely_pathogenic
1	21563219	G	A	G21563219A	ALPL	NM_000478.6(ALPL):c.407G>A:p.Arg136His	coding	Pathogenic
1	21563267	G	A	G21563267A	ALPL	NM_000478.6(ALPL):c.455G>A:p.Arg152His	coding	Benign/Likely_benign
1	21564068	C	T	C21564068T	ALPL	NM_000478.6(ALPL):c.500C>T:p.Thr167Met	coding	Pathogenic
1	21564094	G	A	G21564094A	ALPL	NM_000478.6(ALPL):c.526G>A:p.Ala176Thr	coding	Pathogenic/Likely_pathogenic
1	21564102	C	T	C21564102T	ALPL	NM_000478.6(ALPL):c.534C>T:p.Tyr178=	coding	Benign/Likely_benign
1	21564103	G	A	G21564103A	ALPL	NM_000478.6(ALPL):c.535G>A:p.Ala179Thr	coding	Pathogenic/Likely_pathogenic
1	21564139	G	A	G21564139A	ALPL	NM_000478.6(ALPL):c.571G>A:p.Glu191Lys	coding	Pathogenic/Likely_pathogenic
1	21564139	G	T	G21564139T	ALPL	NM_000478.6(ALPL):c.571G>T:p.Glu191Ter	coding	Pathogenic
1	21564188	A	C	A21564188C	ALPL	NM_000478.6(ALPL):c.620A>C:p.Gln207Pro	coding	Pathogenic
1	21564217	G	A	G21564217A	ALPL	NM_000478.6(ALPL):c.648+1G>A	coding	Pathogenic
1	21568122	C	T	C21568122T	ALPL	NM_000478.6(ALPL):c.667C>T:p.Arg223Trp	coding	Pathogenic/Likely_pathogenic
1	21568123	G	A	G21568123A	ALPL	NM_000478.6(ALPL):c.668G>A:p.Arg223Gln	coding	Pathogenic/Likely_pathogenic
1	21568193	G	T	G21568193T	ALPL	NM_000478.6(ALPL):c.738G>T:p.Arg246Ser	coding	Pathogenic
1	21568242	T	C	T21568242C	ALPL	NM_000478.6(ALPL):c.787T>C:p.Tyr263His	coding	Benign
1	21568292	G	T	G21568292T	ALPL	NM_000478.6(ALPL):c.792+45G>T	noncoding	Benign
1	21570274	C	T	C21570274T	ALPL	NM_000478.6(ALPL):c.793-31C>T	noncoding	Benign
1	21570326	C	T	C21570326T	ALPL	NM_000478.6(ALPL):c.814C>T:p.Arg272Cys	coding	Pathogenic
1	21570370	A	G	A21570370G	ALPL	NM_000478.6(ALPL):c.858A>G:p.Leu286=	coding	Benign
1	21570371	T	C	T21570371C	ALPL	NM_000478.6(ALPL):c.859T>C:p.Leu287=	coding	Benign
1	21570394	G	T	G21570394T	ALPL	NM_000478.6(ALPL):c.862+20G>T	noncoding	Benign
1	21573619	G	A	G21573619A	ALPL	NM_000478.6(ALPL):c.863-46G>A	noncoding	Benign
1	21573653	C	G	C21573653G	ALPL	NM_000478.6(ALPL):c.863-12C>G	noncoding	Benign
1	21573658	T	C	T21573658C	ALPL	NM_000478.6(ALPL):c.863-7T>C	noncoding	Benign
1	21573678	A	G	A21573678G	ALPL	NM_000478.6(ALPL):c.876A>G:p.Pro292=	coding	Benign
1	21573683	A	C	A21573683C	ALPL	NM_000478.6(ALPL):c.881A>C:p.Asp294Ala	coding	Pathogenic
1	21573694	G	A	G21573694A	ALPL	NM_000478.6(ALPL):c.892G>A:p.Glu298Lys	coding	Pathogenic
1	21573725	C	G	C21573725G	ALPL	NM_000478.6(ALPL):c.923C>G:p.Ser308Ter	coding	Pathogenic
1	21573781	T	C	T21573781C	ALPL	NM_000478.6(ALPL):c.979T>C:p.Phe327Leu	coding	Pathogenic/Likely_pathogenic
1	21573800	G	T	G21573800T	ALPL	NM_000478.6(ALPL):c.997+1G>T	coding	Pathogenic
1	21573801	T	G	T21573801G	ALPL	NM_000478.6(ALPL):c.997+2T>G	noncoding	Pathogenic
1	21573810	C	T	C21573810T	ALPL	NM_000478.6(ALPL):c.997+11C>T	noncoding	Benign
1	21575736	G	A	G21575736A	ALPL	NM_000478.6(ALPL):c.1001G>A:p.Gly334Asp	coding	Pathogenic/Likely_pathogenic
1	21575812	C	G	C21575812G	ALPL	NM_000478.6(ALPL):c.1077C>G:p.Ile359Met	coding	Pathogenic
1	21575854	C	T	C21575854T	ALPL	NM_000478.6(ALPL):c.1119C>T:p.Thr373=	coding	Benign
1	21575868	A	T	A21575868T	ALPL	NM_000478.6(ALPL):c.1133A>T:p.Asp378Val	coding	Pathogenic
1	21575906	C	T	C21575906T	ALPL	NM_000478.6(ALPL):c.1171C>T:p.Arg391Cys	coding	Pathogenic/Likely_pathogenic
1	21575943	G	T	G21575943T	ALPL	NM_000478.6(ALPL):c.1189+19G>T	noncoding	Benign/Likely_benign
1	21576520	A	T	A21576520T	ALPL	NM_000478.6(ALPL):c.1190-2A>T	noncoding	Pathogenic
1	21576582	A	G	A21576582G	ALPL	NM_000478.6(ALPL):c.1250A>G:p.Asn417Ser	coding	Pathogenic/Likely_pathogenic
1	21576614	C	T	C21576614T	ALPL	NM_000478.6(ALPL):c.1282C>T:p.Arg428Ter	coding	Pathogenic
1	21576638	T	C	T21576638C	ALPL	NM_000478.6(ALPL):c.1306T>C:p.Tyr436His	coding	Pathogenic
1	21576687	C	T	C21576687T	ALPL	NM_000478.6(ALPL):c.1309+46C>T	noncoding	Benign
1	21577421	C	T	C21577421T	ALPL	NM_000478.6(ALPL):c.1348C>T:p.Arg450Cys	coding	Pathogenic
1	21577436	G	A	G21577436A	ALPL	NM_000478.6(ALPL):c.1363G>A:p.Gly455Ser	coding	Pathogenic/Likely_pathogenic
1	21577439	G	A	G21577439A	ALPL	NM_000478.6(ALPL):c.1366G>A:p.Gly456Arg	coding	Pathogenic
1	21577454	G	A	G21577454A	ALPL	NM_000478.6(ALPL):c.1381G>A:p.Val461Ile	coding	Benign/Likely_benign
1	21577544	G	A	G21577544A	ALPL	NM_000478.6(ALPL):c.1471G>A:p.Gly491Arg	coding	Pathogenic/Likely_pathogenic
1	21577555	C	T	C21577555T	ALPL	NM_000478.6(ALPL):c.1482C>T:p.Leu494=	coding	Benign
1	21577615	G	T	G21577615T	ALPL	NM_000478.6(ALPL):c.1542G>T:p.Ala514=	coding	Benign
1	21577638	T	C	T21577638C	ALPL	NM_000478.6(ALPL):c.1565T>C:p.Val522Ala	coding	Benign
1	21577713	C	A	C21577713A	ALPL	NM_000478.6(ALPL):c.*65C>A	noncoding	Benign
1	21577713	C	T	C21577713T	ALPL	NM_000478.6(ALPL):c.*65C>T	noncoding	Benign
1	21577714	C	A	C21577714A	ALPL	NM_000478.6(ALPL):c.*66C>A	noncoding	Benign
1	21577774	A	G	A21577774G	ALPL	NM_000478.6(ALPL):c.*126A>G	noncoding	Benign
1	21577852	T	C	T21577852C	ALPL	NM_000478.6(ALPL):c.*204T>C	noncoding	Benign
1	21577881	A	C	A21577881C	ALPL	NM_000478.6(ALPL):c.*233A>C	noncoding	Benign
1	21577953	C	T	C21577953T	ALPL	NM_000478.6(ALPL):c.*305C>T	noncoding	Benign
1	21578036	C	T	C21578036T	ALPL	NM_000478.6(ALPL):c.*388C>T	noncoding	Benign
1	21578081	A	G	A21578081G	ALPL	NM_000478.6(ALPL):c.*433A>G	noncoding	Benign
1	21578108	G	A	G21578108A	ALPL	NM_000478.6(ALPL):c.*460G>A	noncoding	Benign
1	21578121	G	T	G21578121T	ALPL	NM_000478.6(ALPL):c.*473G>T	noncoding	Benign
1	21578128	A	C	A21578128C	ALPL	NM_000478.6(ALPL):c.*480A>C	noncoding	Benign
1	21703628	A	G	A21703628G	USP48	NM_032236.8(USP48):c.2516-10T>C	noncoding	Benign
1	21822324	G	A	G21822324A	HSPG2	NM_005529.7(HSPG2):c.*992C>T	noncoding	Benign
1	21822580	G	A	G21822580A	HSPG2	NM_005529.7(HSPG2):c.*736C>T	noncoding	Benign
1	21822690	G	C	G21822690C	HSPG2	NM_005529.7(HSPG2):c.*626C>G	noncoding	Benign
1	21822886	C	T	C21822886T	HSPG2	NM_005529.7(HSPG2):c.*430G>A	noncoding	Benign
1	21823373	G	A	G21823373A	HSPG2	NM_005529.7(HSPG2):c.13119C>T:p.Pro4373=	coding	Benign
1	21823404	G	A	G21823404A	HSPG2	NM_005529.7(HSPG2):c.13088C>T:p.Ser4363Leu	coding	Benign
1	21823442	T	C	T21823442C	HSPG2	NM_005529.7(HSPG2):c.13050A>G:p.Ser4350=	coding	Benign
1	21823625	C	T	C21823625T	HSPG2	NM_005529.7(HSPG2):c.12994G>A:p.Val4332Ile	coding	Benign
1	21823627	C	T	C21823627T	HSPG2	NM_005529.7(HSPG2):c.12992G>A:p.Ser4331Asn	coding	Benign
1	21823637	C	T	C21823637T	HSPG2	NM_005529.7(HSPG2):c.12982G>A:p.Ala4328Thr	coding	Benign/Likely_benign
1	21823667	G	T	G21823667T	HSPG2	NM_005529.7(HSPG2):c.12952C>A:p.Arg4318=	coding	Benign
1	21824302	C	T	C21824302T	HSPG2	NM_005529.7(HSPG2):c.12815+4G>A	coding	Benign
1	21824320	C	A	C21824320A	HSPG2	NM_005529.7(HSPG2):c.12801G>T:p.Gly4267=	coding	Benign
1	21824733	G	A	G21824733A	HSPG2	NM_005529.7(HSPG2):c.12636C>T:p.Leu4212=	coding	Benign
1	21827894	G	A	G21827894A	HSPG2	NM_005529.7(HSPG2):c.12558C>T:p.Ser4186=	coding	Benign
1	21828352	A	G	A21828352G	HSPG2	NM_005529.7(HSPG2):c.12312T>C:p.Asp4104=	coding	Benign
1	21828408	G	A	G21828408A	HSPG2	NM_005529.7(HSPG2):c.12256C>T:p.Arg4086Trp	coding	Benign
1	21828852	G	A	G21828852A	HSPG2	NM_005529.7(HSPG2):c.12220C>T:p.Arg4074Cys	coding	Benign
1	21828860	G	A	G21828860A	HSPG2	NM_005529.7(HSPG2):c.12212C>T:p.Ala4071Val	coding	Benign
1	21829060	G	A	G21829060A	HSPG2	NM_005529.7(HSPG2):c.12012C>T:p.Ser4004=	coding	Benign
1	21829068	G	C	G21829068C	HSPG2	NM_005529.7(HSPG2):c.12004C>G:p.Leu4002Val	coding	Benign/Likely_benign
1	21829230	T	C	T21829230C	HSPG2	NM_005529.7(HSPG2):c.11993-151A>G	noncoding	Benign
1	21829348	T	C	T21829348C	HSPG2	NM_005529.7(HSPG2):c.11992+35A>G	noncoding	Benign
1	21829360	C	T	C21829360T	HSPG2	NM_005529.7(HSPG2):c.11992+23G>A	noncoding	Benign
1	21829438	G	A	G21829438A	HSPG2	NM_005529.7(HSPG2):c.11937C>T:p.Phe3979=	coding	Benign/Likely_benign
1	21830046	C	T	C21830046T	HSPG2	NM_005529.7(HSPG2):c.11717G>A:p.Arg3906Gln	coding	Benign/Likely_benign
1	21830078	G	C	G21830078C	HSPG2	NM_005529.7(HSPG2):c.11685C>G:p.Pro3895=	coding	Benign
1	21830967	G	A	G21830967A	HSPG2	NM_005529.7(HSPG2):c.11671+15C>T	noncoding	Benign
1	21830977	C	T	C21830977T	HSPG2	NM_005529.7(HSPG2):c.11671+5G>A	noncoding	Benign/Likely_benign
1	21831052	G	A	G21831052A	HSPG2	NM_005529.7(HSPG2):c.11601C>T:p.Tyr3867=	coding	Benign
1	21831548	G	A	G21831548A	HSPG2	NM_005529.7(HSPG2):c.11367C>T:p.Gly3789=	coding	Benign
1	21831664	A	G	A21831664G	HSPG2	NM_005529.7(HSPG2):c.11340T>C:p.Asn3780=	coding	Benign
1	21831710	C	T	C21831710T	HSPG2	NM_005529.7(HSPG2):c.11294G>A:p.Ser3765Asn	coding	Benign
1	21831715	C	T	C21831715T	HSPG2	NM_005529.7(HSPG2):c.11289G>A:p.Leu3763=	coding	Benign/Likely_benign
1	21832515	C	A	C21832515A	HSPG2	NM_005529.7(HSPG2):c.11187G>T:p.Val3729=	coding	Benign
1	21832533	G	A	G21832533A	HSPG2	NM_005529.7(HSPG2):c.11169C>T:p.Phe3723=	coding	Benign/Likely_benign
1	21833281	G	A	G21833281A	HSPG2	NM_005529.7(HSPG2):c.11082C>T:p.Pro3694=	coding	Benign
1	21833508	C	T	C21833508T	HSPG2	NM_005529.7(HSPG2):c.10937G>A:p.Arg3646His	coding	Benign/Likely_benign
1	21833527	C	T	C21833527T	HSPG2	NM_005529.7(HSPG2):c.10918G>A:p.Val3640Ile	coding	Benign
1	21833550	C	T	C21833550T	HSPG2	NM_005529.7(HSPG2):c.10895G>A:p.Arg3632Gln	coding	Benign
1	21833551	G	A	G21833551A	HSPG2	NM_005529.7(HSPG2):c.10894C>T:p.Arg3632Ter	coding	Pathogenic
1	21833618	C	T	C21833618T	HSPG2	NM_005529.7(HSPG2):c.10831-4G>A	noncoding	Benign
1	21834697	C	T	C21834697T	HSPG2	NM_005529.7(HSPG2):c.10702G>A:p.Val3568Ile	coding	Benign/Likely_benign
1	21834722	G	A	G21834722A	HSPG2	NM_005529.7(HSPG2):c.10677C>T:p.Asn3559=	coding	Benign/Likely_benign
1	21834782	G	A	G21834782A	HSPG2	NM_005529.7(HSPG2):c.10617C>T:p.Val3539=	coding	Benign
1	21834811	G	A	G21834811A	HSPG2	NM_005529.7(HSPG2):c.10588C>T:p.Arg3530Trp	coding	Benign
1	21834901	C	T	C21834901T	HSPG2	NM_005529.7(HSPG2):c.10498G>A:p.Val3500Met	coding	Benign/Likely_benign
1	21836717	C	A	C21836717A	HSPG2	NM_005529.7(HSPG2):c.10355+85G>T	noncoding	Benign
1	21836897	G	A	G21836897A	HSPG2	NM_005529.7(HSPG2):c.10260C>T:p.His3420=	coding	Benign
1	21837014	G	A	G21837014A	HSPG2	NM_005529.7(HSPG2):c.10151-8C>T	noncoding	Benign
1	21838865	C	T	C21838865T	HSPG2	NM_005529.7(HSPG2):c.10110G>A:p.Lys3370=	coding	Benign/Likely_benign
1	21838930	G	C	G21838930C	HSPG2	NM_005529.7(HSPG2):c.10045C>G:p.Leu3349Val	coding	Benign/Likely_benign
1	21838950	C	T	C21838950T	HSPG2	NM_005529.7(HSPG2):c.10025G>A:p.Arg3342Lys	coding	Benign
1	21839030	C	T	C21839030T	HSPG2	NM_005529.7(HSPG2):c.9945G>A:p.Thr3315=	coding	Benign
1	21839408	A	G	A21839408G	HSPG2	NM_005529.7(HSPG2):c.9852T>C:p.Ala3284=	coding	Benign
1	21839470	T	C	T21839470C	HSPG2	NM_005529.7(HSPG2):c.9790A>G:p.Ile3264Val	coding	Benign
1	21839471	G	T	G21839471T	HSPG2	NM_005529.7(HSPG2):c.9789C>A:p.Leu3263=	coding	Benign
1	21839494	G	A	G21839494A	HSPG2	NM_005529.7(HSPG2):c.9766C>T:p.His3256Tyr	coding	Benign
1	21839528	G	A	G21839528A	HSPG2	NM_005529.7(HSPG2):c.9732C>T:p.His3244=	coding	Benign
1	21839541	G	A	G21839541A	HSPG2	NM_005529.7(HSPG2):c.9719C>T:p.Ala3240Val	coding	Benign/Likely_benign
1	21839615	C	T	C21839615T	HSPG2	NM_005529.7(HSPG2):c.9710-65G>A	noncoding	Benign
1	21839991	C	T	C21839991T	HSPG2	NM_005529.7(HSPG2):c.9540G>A:p.Ala3180=	coding	Benign
1	21840020	G	A	G21840020A	HSPG2	NM_005529.7(HSPG2):c.9514-3C>T	noncoding	Benign
1	21841112	C	T	C21841112T	HSPG2	NM_005529.7(HSPG2):c.9502G>A:p.Ala3168Thr	coding	Benign
1	21841203	G	A	G21841203A	HSPG2	NM_005529.7(HSPG2):c.9411C>T:p.Ala3137=	coding	Benign/Likely_benign
1	21841292	G	A	G21841292A	HSPG2	NM_005529.7(HSPG2):c.9329-7C>T	noncoding	Benign
1	21841293	G	A	G21841293A	HSPG2	NM_005529.7(HSPG2):c.9329-8C>T	noncoding	Benign
1	21841540	G	A	G21841540A	HSPG2	NM_005529.7(HSPG2):c.9327C>T:p.His3109=	coding	Benign/Likely_benign
1	21842308	T	C	T21842308C	HSPG2	NM_005529.7(HSPG2):c.8983A>G:p.Ser2995Gly	coding	Benign
1	21842352	A	T	A21842352T	HSPG2	NM_005529.7(HSPG2):c.8939T>A:p.Leu2980His	coding	Benign
1	21842362	G	A	G21842362A	HSPG2	NM_005529.7(HSPG2):c.8929C>T:p.Arg2977Trp	coding	Benign
1	21842832	C	T	C21842832T	HSPG2	NM_005529.7(HSPG2):c.8848G>A:p.Gly2950Arg	coding	Benign
1	21843433	G	A	G21843433A	HSPG2	NM_005529.7(HSPG2):c.8622C>T:p.His2874=	coding	Benign
1	21844219	C	A	C21844219A	HSPG2	NM_005529.7(HSPG2):c.8545G>T:p.Val2849Leu	coding	Benign/Likely_benign
1	21846104	T	C	T21846104C	HSPG2	NM_005529.7(HSPG2):c.8464+4A>G	noncoding	Pathogenic
1	21846191	C	T	C21846191T	HSPG2	NM_005529.7(HSPG2):c.8381G>A:p.Arg2794Gln	coding	Benign
1	21846242	C	T	C21846242T	HSPG2	NM_005529.7(HSPG2):c.8330G>A:p.Arg2777Gln	coding	Benign
1	21846247	G	A	G21846247A	HSPG2	NM_005529.7(HSPG2):c.8325C>T:p.Gly2775=	coding	Benign/Likely_benign
1	21846447	C	T	C21846447T	HSPG2	NM_005529.7(HSPG2):c.8316+1G>A	noncoding	Pathogenic
1	21846692	C	T	C21846692T	HSPG2	NM_005529.7(HSPG2):c.8165-93G>A	noncoding	Benign
1	21847474	G	A	G21847474A	HSPG2	NM_005529.7(HSPG2):c.8044C>T:p.Arg2682Trp	coding	Benign/Likely_benign
1	21847497	A	G	A21847497G	HSPG2	NM_005529.7(HSPG2):c.8026-5T>C	noncoding	Benign
1	21848025	G	T	G21848025T	HSPG2	NM_005529.7(HSPG2):c.7806C>A:p.Val2602=	coding	Benign
1	21848107	A	G	A21848107G	HSPG2	NM_005529.7(HSPG2):c.7738-14T>C	noncoding	Benign
1	21848946	G	A	G21848946A	HSPG2	NM_005529.7(HSPG2):c.7532C>T:p.Thr2511Ile	coding	Benign
1	21848967	C	T	C21848967T	HSPG2	NM_005529.7(HSPG2):c.7511G>A:p.Arg2504His	coding	Benign/Likely_benign
1	21848969	G	A	G21848969A	HSPG2	NM_005529.7(HSPG2):c.7509C>T:p.Cys2503=	coding	Benign
1	21849945	C	T	C21849945T	HSPG2	NM_005529.7(HSPG2):c.7446+96G>A	noncoding	Benign
1	21850191	T	A	T21850191A	HSPG2	NM_005529.7(HSPG2):c.7296A>T:p.Ala2432=	coding	Benign
1	21850359	T	C	T21850359C	HSPG2	NM_005529.7(HSPG2):c.7294+4A>G	noncoding	Pathogenic
1	21850466	C	T	C21850466T	HSPG2	NM_005529.7(HSPG2):c.7191G>A:p.Ala2397=	coding	Benign/Likely_benign
1	21851608	C	T	C21851608T	HSPG2	NM_005529.7(HSPG2):c.7096G>A:p.Gly2366Arg	coding	Benign/Likely_benign
1	21851669	G	A	G21851669A	HSPG2	NM_005529.7(HSPG2):c.7035C>T:p.Ile2345=	coding	Benign
1	21851678	G	A	G21851678A	HSPG2	NM_005529.7(HSPG2):c.7026C>T:p.Pro2342=	coding	Benign/Likely_benign
1	21851790	C	T	C21851790T	HSPG2	NM_005529.7(HSPG2):c.7006+1G>A	noncoding	Pathogenic
1	21852751	C	T	C21852751T	HSPG2	NM_005529.7(HSPG2):c.6673G>A:p.Gly2225Ser	coding	Benign
1	21852958	C	T	C21852958T	HSPG2	NM_005529.7(HSPG2):c.6552G>A:p.Thr2184=	coding	Benign
1	21854230	C	T	C21854230T	HSPG2	NM_005529.7(HSPG2):c.6402G>A:p.Val2134=	coding	Benign
1	21854844	G	A	G21854844A	HSPG2	NM_005529.7(HSPG2):c.6133+4C>T	noncoding	Benign
1	21854867	G	C	G21854867C	HSPG2	NM_005529.7(HSPG2):c.6114C>G:p.Ile2038Met	coding	Benign
1	21854876	C	T	C21854876T	HSPG2	NM_005529.7(HSPG2):c.6105G>A:p.Gln2035=	coding	Benign/Likely_benign
1	21854990	T	C	T21854990C	HSPG2	NM_005529.7(HSPG2):c.5998-7A>G	noncoding	Benign
1	21855299	C	G	C21855299G	HSPG2	NM_005529.7(HSPG2):c.5997+5G>C	noncoding	Benign
1	21855402	C	T	C21855402T	HSPG2	NM_005529.7(HSPG2):c.5899G>A:p.Val1967Ile	coding	Benign
1	21855621	C	T	C21855621T	HSPG2	NM_005529.7(HSPG2):c.5756G>A:p.Arg1919His	coding	Benign/Likely_benign
1	21855622	G	A	G21855622A	HSPG2	NM_005529.7(HSPG2):c.5755C>T:p.Arg1919Cys	coding	Benign
1	21855635	G	A	G21855635A	HSPG2	NM_005529.7(HSPG2):c.5742C>T:p.His1914=	coding	Benign
1	21855680	C	T	C21855680T	HSPG2	NM_005529.7(HSPG2):c.5702-5G>A	noncoding	Benign
1	21857136	G	A	G21857136A	HSPG2	NM_005529.7(HSPG2):c.5454C>T:p.Ala1818=	coding	Benign
1	21857148	C	T	C21857148T	HSPG2	NM_005529.7(HSPG2):c.5442G>A:p.Leu1814=	coding	Benign
1	21859857	G	A	G21859857A	HSPG2	NM_005529.7(HSPG2):c.5160C>T:p.Ser1720=	coding	Benign
1	21861835	C	T	C21861835T	HSPG2	NM_005529.7(HSPG2):c.4877G>A:p.Arg1626His	coding	Benign/Likely_benign
1	21864874	C	T	C21864874T	HSPG2	NM_005529.7(HSPG2):c.4595G>A:p.Cys1532Tyr	coding	Pathogenic
1	21864961	G	A	G21864961A	HSPG2	NM_005529.7(HSPG2):c.4508C>T:p.Ala1503Val	coding	Benign
1	21865032	C	T	C21865032T	HSPG2	NM_005529.7(HSPG2):c.4437G>A:p.Glu1479=	coding	Benign
1	21865078	G	A	G21865078A	HSPG2	NM_005529.7(HSPG2):c.4396-5C>T	noncoding	Benign
1	21872231	A	G	A21872231G	HSPG2	NM_005529.7(HSPG2):c.4176T>C:p.His1392=	coding	Benign
1	21872275	C	T	C21872275T	HSPG2	NM_005529.7(HSPG2):c.4132G>A:p.Glu1378Lys	coding	Benign/Likely_benign
1	21872682	G	C	G21872682C	HSPG2	NM_005529.7(HSPG2):c.3967C>G:p.Leu1323Val	coding	Benign
1	21872704	A	G	A21872704G	HSPG2	NM_005529.7(HSPG2):c.3945T>C:p.Ser1315=	coding	Benign/Likely_benign
1	21872752	C	T	C21872752T	HSPG2	NM_005529.7(HSPG2):c.3897G>A:p.Val1299=	coding	Benign
1	21872770	C	T	C21872770T	HSPG2	NM_005529.7(HSPG2):c.3889-10G>A	noncoding	Benign/Likely_benign
1	21873094	G	T	G21873094T	HSPG2	NM_005529.7(HSPG2):c.3794-3C>A	noncoding	Benign
1	21873169	T	A	T21873169A	HSPG2	NM_005529.7(HSPG2):c.3794-78A>T	noncoding	Benign
1	21873432	G	A	G21873432A	HSPG2	NM_005529.7(HSPG2):c.3744-8C>T	noncoding	Benign
1	21873489	G	A	G21873489A	HSPG2	NM_005529.7(HSPG2):c.3744-65C>T	noncoding	Benign
1	21873960	C	T	C21873960T	HSPG2	NM_005529.7(HSPG2):c.3708G>A:p.Ala1236=	coding	Benign
1	21873980	C	T	C21873980T	HSPG2	NM_005529.7(HSPG2):c.3688G>A:p.Gly1230Ser	coding	Benign
1	21874505	C	T	C21874505T	HSPG2	NM_005529.7(HSPG2):c.3557G>A:p.Arg1186Gln	coding	Benign
1	21874606	C	A	C21874606A	HSPG2	NM_005529.7(HSPG2):c.3528+10G>T	noncoding	Benign
1	21874945	C	T	C21874945T	HSPG2	NM_005529.7(HSPG2):c.3360G>A:p.Ala1120=	coding	Benign
1	21874969	G	A	G21874969A	HSPG2	NM_005529.7(HSPG2):c.3336C>T:p.Pro1112=	coding	Benign
1	21875616	C	T	C21875616T	HSPG2	NM_005529.7(HSPG2):c.3302+13G>A	noncoding	Benign
1	21875639	C	T	C21875639T	HSPG2	NM_005529.7(HSPG2):c.3292G>A:p.Ala1098Thr	coding	Benign/Likely_benign
1	21875662	C	T	C21875662T	HSPG2	NM_005529.7(HSPG2):c.3269G>A:p.Arg1090Gln	coding	Benign/Likely_benign
1	21875990	G	A	G21875990A	HSPG2	NM_005529.7(HSPG2):c.3056C>T:p.Pro1019Leu	coding	Benign/Likely_benign
1	21876363	T	G	T21876363G	HSPG2	NM_005529.7(HSPG2):c.2869A>C:p.Asn957His	coding	Benign
1	21876382	A	G	A21876382G	HSPG2	NM_005529.7(HSPG2):c.2850T>C:p.Pro950=	coding	Benign
1	21878454	C	T	C21878454T	HSPG2	NM_005529.7(HSPG2):c.2596G>A:p.Gly866Ser	coding	Benign
1	21878464	G	A	G21878464A	HSPG2	NM_005529.7(HSPG2):c.2586C>T:p.Pro862=	coding	Benign
1	21878560	C	A	C21878560A	HSPG2	NM_005529.7(HSPG2):c.2558+17G>T	noncoding	Benign
1	21878615	G	A	G21878615A	HSPG2	NM_005529.7(HSPG2):c.2520C>T:p.Asp840=	coding	Benign
1	21879003	G	A	G21879003A	HSPG2	NM_005529.7(HSPG2):c.2462C>T:p.Ala821Val	coding	Benign/Likely_benign
1	21880124	C	T	C21880124T	HSPG2	NM_005529.7(HSPG2):c.2326G>A:p.Val776Met	coding	Benign/Likely_benign
1	21880156	T	C	T21880156C	HSPG2	NM_005529.7(HSPG2):c.2294A>G:p.Asn765Ser	coding	Benign
1	21880449	G	A	G21880449A	HSPG2	NM_005529.7(HSPG2):c.2109C>T:p.Ala703=	coding	Benign
1	21880572	G	A	G21880572A	HSPG2	NM_005529.7(HSPG2):c.1999-13C>T	noncoding	Benign
1	21880647	G	A	G21880647A	HSPG2	NM_005529.7(HSPG2):c.1998+9C>T	noncoding	Benign/Likely_benign
1	21880742	T	C	T21880742C	HSPG2	NM_005529.7(HSPG2):c.1912A>G:p.Met638Val	coding	Benign
1	21881381	G	A	G21881381A	HSPG2	NM_005529.7(HSPG2):c.1776C>T:p.His592=	coding	Benign
1	21881537	C	T	C21881537T	HSPG2	NM_005529.7(HSPG2):c.1655-35G>A	noncoding	Benign
1	21884633	C	T	C21884633T	HSPG2	NM_005529.7(HSPG2):c.1549G>A:p.Ala517Thr	coding	Benign
1	21885130	C	T	C21885130T	HSPG2	NM_005529.7(HSPG2):c.1238G>A:p.Arg413Gln	coding	Benign/Likely_benign
1	21885363	G	A	G21885363A	HSPG2	NM_005529.7(HSPG2):c.1167C>T:p.Asp389=	coding	Benign
1	21885448	G	T	G21885448T	HSPG2	NM_005529.7(HSPG2):c.1082C>A:p.Thr361Asn	coding	Benign/Likely_benign
1	21887339	G	A	G21887339A	HSPG2	NM_005529.7(HSPG2):c.959-5C>T	noncoding	Benign
1	21887413	T	C	T21887413C	HSPG2	NM_005529.7(HSPG2):c.958+7A>G	noncoding	Benign
1	21887547	G	A	G21887547A	HSPG2	NM_005529.7(HSPG2):c.831C>T:p.Pro277=	coding	Benign
1	21887553	C	T	C21887553T	HSPG2	NM_005529.7(HSPG2):c.825G>A:p.Leu275=	coding	Benign
1	21887589	C	T	C21887589T	HSPG2	NM_005529.7(HSPG2):c.789G>A:p.Met263Ile	coding	Benign
1	21887634	A	G	A21887634G	HSPG2	NM_005529.7(HSPG2):c.744T>C:p.Leu248=	coding	Benign
1	21887916	G	A	G21887916A	HSPG2	NM_005529.7(HSPG2):c.703+22C>T	noncoding	Benign
1	21887943	T	C	T21887943C	HSPG2	NM_005529.7(HSPG2):c.698A>G:p.Asn233Ser	coding	Benign
1	21890081	C	A	C21890081A	HSPG2	NM_005529.7(HSPG2):c.474G>T:p.Gly158=	coding	Benign
1	21890087	C	T	C21890087T	HSPG2	NM_005529.7(HSPG2):c.468G>A:p.Ala156=	coding	Benign
1	21890111	C	G	C21890111G	HSPG2	NM_005529.7(HSPG2):c.444G>C:p.Leu148=	coding	Benign
1	21890615	G	A	G21890615A	HSPG2	NM_005529.7(HSPG2):c.324C>T:p.Phe108=	coding	Benign
1	21895962	G	T	G21895962T	HSPG2	NM_005529.7(HSPG2):c.204C>A:p.Asp68Glu	coding	Benign/Likely_benign
1	21980883	C	T	C21980883T	CELA3B	NM_007352.4(CELA3B):c.189C>T:p.Ile63=	coding	Benign
1	21983722	C	T	C21983722T	CELA3B	NM_007352.4(CELA3B):c.391C>T:p.Arg131Cys	coding	Benign
1	22078546	A	G	A22078546G	CDC42	NM_001791.4(CDC42):c.68A>G:p.Tyr23Cys	coding	Pathogenic/Likely_pathogenic
1	22086451	A	G	A22086451G	CDC42	NM_001791.4(CDC42):c.191A>G:p.Tyr64Cys	coding	Pathogenic/Likely_pathogenic
1	22086456	A	G	A22086456G	CDC42	NM_001791.4(CDC42):c.196A>G:p.Arg66Gly	coding	Pathogenic
1	22086463	G	A	G22086463A	CDC42	NM_001791.4(CDC42):c.203G>A:p.Arg68Gln	coding	Pathogenic/Likely_pathogenic
1	22086507	T	C	T22086507C	CDC42	NM_001791.4(CDC42):c.247T>C:p.Ser83Pro	coding	Pathogenic
1	22086536	C	T	C22086536T	CDC42	NM_001791.4(CDC42):c.276C>T:p.Asn92=	coding	Benign
1	22086842	T	C	T22086842C	CDC42	NM_001791.4(CDC42):c.462T>C:p.Tyr154=	coding	Benign
1	22086856	C	T	C22086856T	CDC42	NM_001791.4(CDC42):c.476C>T:p.Ala159Val	coding	Pathogenic
1	22091452	G	A	G22091452A	CDC42	NM_001791.4(CDC42):c.511G>A:p.Glu171Lys	coding	Pathogenic
1	22120197	G	A	G22120197A	WNT4	NM_030761.5(WNT4):c.909C>T:p.Ile303=	coding	Benign
1	22120459	T	C	T22120459C	WNT4	NM_030761.5(WNT4):c.647A>G:p.Glu216Gly	coding	Pathogenic
1	22121316	G	A	G22121316A	WNT4	NM_030761.5(WNT4):c.483C>T:p.Tyr161=	coding	Benign
1	22121328	G	A	G22121328A	WNT4	NM_030761.5(WNT4):c.471C>T:p.Asp157=	coding	Benign
1	22121549	G	A	G22121549A	WNT4	NM_030761.5(WNT4):c.341C>T:p.Ala114Val	coding	Pathogenic
1	22129653	G	A	G22129653A	WNT4	NM_030761.5(WNT4):c.276C>T:p.Leu92=	coding	Benign
1	22129682	G	A	G22129682A	WNT4	NM_030761.5(WNT4):c.247C>T:p.Arg83Trp	coding	Pathogenic
1	22142888	A	G	A22142888G	WNT4	NM_030761.5(WNT4):c.35T>C:p.Leu12Pro	coding	Pathogenic
1	22490194	A	G	A22490194G	ZBTB40	NM_014870.4(ZBTB40):c.246A>G:p.Lys82=	coding	Benign
1	22491503	G	A	G22491503A	ZBTB40	NM_014870.4(ZBTB40):c.801G>A:p.Met267Ile	coding	Benign
1	22501551	T	C	T22501551C	ZBTB40	NM_014870.4(ZBTB40):c.891T>C:p.Gly297=	coding	Benign
1	22576688	C	T	C22576688T	EPHA8	NM_020526.5(EPHA8):c.631C>T:p.Leu211=	coding	Benign
1	22593607	C	T	C22593607T	EPHA8	NM_020526.5(EPHA8):c.1524C>T:p.Tyr508=	coding	Benign
1	22598153	C	T	C22598153T	EPHA8	NM_020526.5(EPHA8):c.2119C>T:p.Arg707Cys	coding	Benign
1	22601645	C	T	C22601645T	EPHA8	NM_020526.5(EPHA8):c.2922C>T:p.Gly974=	coding	Benign
1	22637683	G	A	G22637683A	C1QA	NM_015991.4(C1QA):c.67G>A:p.Glu23Lys	coding	Benign/Likely_benign
1	22639194	C	T	C22639194T	C1QA	NM_015991.4(C1QA):c.525C>T:p.Ile175=	coding	Benign
1	22639291	C	T	C22639291T	C1QA	NM_015991.4(C1QA):c.622C>T:p.Gln208Ter	coding	Pathogenic
1	22639317	G	A	G22639317A	C1QA	NM_015991.4(C1QA):c.648G>A:p.Trp216Ter	coding	Pathogenic
1	22639404	C	T	C22639404T	C1QA	NM_015991.4(C1QA):c.735C>T:p.Ala245=	coding	Benign
1	22644123	G	A	G22644123A	C1QC	NM_172369.5(C1QC):c.100G>A:p.Gly34Arg	coding	Pathogenic
1	22647250	C	T	C22647250T	C1QC	NM_172369.5(C1QC):c.205C>T:p.Arg69Ter	coding	Pathogenic
1	22647535	G	A	G22647535A	C1QC	NM_172369.5(C1QC):c.490G>A:p.Gly164Ser	coding	Pathogenic
1	22647604	G	A	G22647604A	C1QC	NM_172369.5(C1QC):c.559G>A:p.Val187Ile	coding	Benign
1	22659522	C	A	C22659522A	C1QB	NM_000491.5(C1QB):c.66C>A:p.Ile22=	coding	Benign
1	22659564	C	G	C22659564G	C1QB	NM_000491.5(C1QB):c.108C>G:p.Ala36=	coding	Benign
1	22659644	G	T	G22659644T	C1QB	NM_000491.5(C1QB):c.187+1G>T	coding	Pathogenic
1	22660957	T	C	T22660957C	C1QB	NM_000491.5(C1QB):c.333T>C:p.Gly111=	coding	Benign
1	22661119	C	T	C22661119T	C1QB	NM_000491.5(C1QB):c.495C>T:p.Pro165=	coding	Benign
1	22661168	G	A	G22661168A	C1QB	NM_000491.5(C1QB):c.544G>A:p.Val182Met	coding	Benign
1	22661173	C	T	C22661173T	C1QB	NM_000491.5(C1QB):c.549C>T:p.Asn183=	coding	Benign/Likely_benign
1	22661354	G	A	G22661354A	C1QB	NM_000491.5(C1QB):c.730G>A:p.Gly244Arg	coding	Pathogenic
1	22784775	C	T	C22784775T	EPHB2	NM_004442.7(EPHB2):c.510C>T:p.Ser170=	coding	Benign
1	22784889	G	A	G22784889A	EPHB2	NM_004442.7(EPHB2):c.624G>A:p.Gln208=	coding	Benign
1	22784922	G	A	G22784922A	EPHB2	NM_004442.7(EPHB2):c.657G>A:p.Leu219=	coding	Benign
1	22863060	G	T	G22863060T	EPHB2	NM_004442.7(EPHB2):c.835G>T:p.Ala279Ser	coding	Benign
1	22863155	C	T	C22863155T	EPHB2	NM_004442.7(EPHB2):c.930C>T:p.Tyr310=	coding	Benign
1	22865142	G	C	G22865142C	EPHB2	NM_004442.7(EPHB2):c.1233G>C:p.Val411=	coding	Benign
1	22895569	C	A	C22895569A	EPHB2	NM_004442.7(EPHB2):c.1689C>A:p.Ile563=	coding	Benign
1	22896435	C	T	C22896435T	EPHB2	NM_004442.7(EPHB2):c.1725C>T:p.Asp575=	coding	Benign
1	22905978	G	T	G22905978T	EPHB2	NM_004442.7(EPHB2):c.1769-9G>T	noncoding	Benign
1	22906118	C	T	C22906118T	EPHB2	NM_004442.7(EPHB2):c.1891+9C>T	noncoding	Benign
1	22906770	T	C	T22906770C	EPHB2	NM_004442.7(EPHB2):c.1952T>C:p.Val651Ala	coding	Benign
1	22907980	C	T	C22907980T	EPHB2	NM_004442.7(EPHB2):c.2167C>T:p.Gln723Ter	coding	Pathogenic
1	22908049	C	T	C22908049T	EPHB2	NM_004442.7(EPHB2):c.2236C>T:p.Arg746Cys	coding	Pathogenic
1	22910504	A	G	A22910504G	EPHB2	NM_004442.7(EPHB2):c.2628A>G:p.Gln876=	coding	Benign
1	23068544	T	C	T23068544C	KDM1A	NM_001009999.3(KDM1A):c.1185T>C:p.Pro395=	coding	Benign
1	23068566	G	A	G23068566A	KDM1A	NM_001009999.3(KDM1A):c.1207G>A:p.Glu403Lys	coding	Pathogenic
1	23073331	T	C	T23073331C	KDM1A	NM_001009999.3(KDM1A):c.1662T>C:p.Asp554=	coding	Benign
1	23077232	A	G	A23077232G	KDM1A	NM_001009999.3(KDM1A):c.1739A>G:p.Asp580Gly	coding	Pathogenic
1	23079558	G	A	G23079558A	KDM1A	NM_001009999.3(KDM1A):c.2061G>A:p.Val687=	coding	Benign
1	23082274	T	C	T23082274C	KDM1A	NM_001009999.3(KDM1A):c.2353T>C:p.Tyr785His	coding	Pathogenic
1	23082324	T	G	T23082324G	KDM1A	NM_001009999.3(KDM1A):c.2403T>G:p.Ala801=	coding	Benign
1	23083181	G	A	G23083181A	KDM1A	NM_001009999.3(KDM1A):c.2448G>A:p.Pro816=	coding	Benign
1	23083310	G	A	G23083310A	KDM1A	NM_001009999.3(KDM1A):c.2577G>A:p.Thr859=	coding	Benign
1	23092083	T	C	T23092083C	LUZP1	NM_033631.4(LUZP1):c.2179A>G:p.Thr727Ala	coding	Benign
1	23092310	G	C	G23092310C	LUZP1	NM_033631.4(LUZP1):c.1952C>G:p.Ser651Cys	coding	Benign
1	23093788	G	C	G23093788C	LUZP1	NM_033631.4(LUZP1):c.474C>G:p.Leu158=	coding	Benign
1	23193426	G	A	G23193426A	HTR1D	NM_000864.4(HTR1D):c.794C>T:p.Ser265Leu	coding	Benign
1	23193662	C	T	C23193662T	HTR1D	NM_000864.4(HTR1D):c.558G>A:p.Ser186=	coding	Benign
1	23194094	G	A	G23194094A	HTR1D	NM_000864.4(HTR1D):c.126C>T:p.Ala42=	coding	Benign
1	23437445	T	G	T23437445G	ASAP3	NM_017707.4(ASAP3):c.1130A>C:p.Glu377Ala	coding	Benign
1	23441104	G	A	G23441104A	ASAP3	NM_017707.4(ASAP3):c.942C>T:p.Asp314=	coding	Benign
1	23451511	C	G	C23451511G	ASAP3	NM_017707.4(ASAP3):c.441G>C:p.Leu147=	coding	Benign
1	23516451	G	A	G23516451A	E2F2	NM_004091.4(E2F2):c.929C>T:p.Pro310Leu	coding	Benign
1	23691787	C	G	C23691787G	RPL11	NM_001199802.1(RPL11):c.-37C>G	noncoding	Benign
1	23691879	G	T	G23691879T	RPL11	NM_000975.5(RPL11):c.6+50G>T	noncoding	Benign
1	23692632	C	T	C23692632T	RPL11	NM_000975.5(RPL11):c.30C>T:p.Asn10=	coding	Benign
1	23692704	G	C	G23692704C	RPL11	NM_000975.5(RPL11):c.102G>C:p.Thr34=	coding	Benign
1	23692755	C	T	C23692755T	RPL11	NM_000975.5(RPL11):c.153C>T:p.Ser51=	coding	Benign
1	23693806	G	A	G23693806A	RPL11	NM_000975.5(RPL11):c.158-1G>A	noncoding	Pathogenic
1	23693872	C	T	C23693872T	RPL11	NM_000975.5(RPL11):c.223C>T:p.Arg75Ter	coding	Pathogenic
1	23694734	C	T	C23694734T	RPL11	NM_000975.5(RPL11):c.339C>T:p.Ile113=	coding	Benign
1	23694800	A	G	A23694800G	RPL11	NM_000975.5(RPL11):c.396+9A>G	noncoding	Benign
1	23696342	A	G	A23696342G	RPL11	NM_000975.5(RPL11):c.508-2A>G	noncoding	Pathogenic
1	23696425	A	G	A23696425G	RPL11	NM_000975.5(RPL11):c.*52A>G	noncoding	Benign
1	23755911	C	T	C23755911T	ELOA	NM_003198.2(ELOA):c.1938C>T:p.Pro646=	coding	Benign
1	23796202	G	T	G23796202T	GALE	NM_001008216.2(GALE):c.937C>A:p.Leu313Met	coding	Pathogenic
1	23796227	C	T	C23796227T	GALE	NM_001008216.2(GALE):c.912G>A:p.Val304=	coding	Benign/Likely_benign
1	23796234	C	T	C23796234T	GALE	NM_001008216.2(GALE):c.905G>A:p.Gly302Asp	coding	Pathogenic
1	23796260	C	T	C23796260T	GALE	NM_001008216.2(GALE):c.879G>A:p.Pro293=	coding	Benign/Likely_benign
1	23796489	G	A	G23796489A	GALE	NM_001008216.2(GALE):c.873+20C>T	noncoding	Benign
1	23796496	C	T	C23796496T	GALE	NM_001008216.2(GALE):c.873+13G>A	noncoding	Benign
1	23796587	C	A	C23796587A	GALE	NM_001008216.2(GALE):c.796-1G>T	coding	Pathogenic
1	23796720	G	A	G23796720A	GALE	NM_001008216.2(GALE):c.772C>T:p.Leu258=	coding	Benign/Likely_benign
1	23796862	G	C	G23796862C	GALE	NM_001008216.2(GALE):c.709+14C>G	noncoding	Benign
1	23797128	A	G	A23797128G	GALE	NM_001008216.2(GALE):c.548T>C:p.Leu183Pro	coding	Pathogenic
1	23797718	G	A	G23797718A	GALE	NM_001008216.2(GALE):c.505C>T:p.Arg169Trp	coding	Pathogenic
1	23797815	G	T	G23797815T	GALE	NM_001008216.2(GALE):c.408C>A:p.Tyr136Ter	coding	Pathogenic
1	23798160	T	C	T23798160C	GALE	NM_001008216.2(GALE):c.308A>G:p.Asp103Gly	coding	Pathogenic
1	23798188	C	T	C23798188T	GALE	NM_001008216.2(GALE):c.280G>A:p.Val94Met	coding	Pathogenic/Likely_pathogenic
1	23798199	C	T	C23798199T	GALE	NM_001008216.2(GALE):c.269G>A:p.Gly90Glu	coding	Pathogenic
1	23798907	T	C	T23798907C	GALE	NM_001008216.2(GALE):c.101A>G:p.Asn34Ser	coding	Pathogenic
1	23801977	C	T	C23801977T	GALE;HMGCL	NM_000191.3(HMGCL):c.*486G>A	noncoding	Benign
1	23804399	C	G	C23804399G	HMGCL	NM_000191.3(HMGCL):c.876+1G>C	noncoding	Pathogenic
1	23804441	C	T	C23804441T	HMGCL	NM_000191.3(HMGCL):c.835G>A:p.Glu279Lys	coding	Pathogenic
1	23807972	C	T	C23807972T	HMGCL	NM_000191.3(HMGCL):c.750+163G>A	noncoding	Benign
1	23808187	T	C	T23808187C	HMGCL	NM_000191.3(HMGCL):c.698A>G:p.His233Arg	coding	Pathogenic/Likely_pathogenic
1	23808231	T	C	T23808231C	HMGCL	NM_000191.3(HMGCL):c.654A>G:p.Leu218=	coding	Benign
1	23808283	G	T	G23808283T	HMGCL	NM_000191.3(HMGCL):c.602C>A:p.Ser201Tyr	coding	Pathogenic
1	23810798	A	T	A23810798T	HMGCL	NM_000191.3(HMGCL):c.499T>A:p.Tyr167Asn	coding	Pathogenic
1	23814244	T	C	T23814244C	HMGCL	NM_000191.3(HMGCL):c.443A>G:p.Gln148Arg	coding	Benign/Likely_benign
1	23814294	T	C	T23814294C	HMGCL	NM_000191.3(HMGCL):c.393A>G:p.Ser131=	coding	Benign/Likely_benign
1	23814312	G	A	G23814312A	HMGCL	NM_000191.3(HMGCL):c.375C>T:p.Val125=	coding	Benign
1	23817442	A	G	A23817442G	HMGCL	NM_000191.3(HMGCL):c.252+34T>C	noncoding	Benign
1	23820532	C	T	C23820532T	HMGCL	NM_000191.3(HMGCL):c.122G>A:p.Arg41Gln	coding	Pathogenic
1	23820545	C	A	C23820545A	HMGCL	NM_000191.3(HMGCL):c.109G>T:p.Glu37Ter	coding	Pathogenic
1	23825368	C	T	C23825368T	HMGCL	NM_000191.3(HMGCL):c.48G>A:p.Ala16=	coding	Benign
1	23825385	G	A	G23825385A	HMGCL	NM_000191.3(HMGCL):c.31C>T:p.Arg11Ter	coding	Pathogenic
1	23845837	G	A	G23845837A	FUCA1	NM_000147.4(FUCA1):c.1279C>T:p.Gln427Ter	coding	Pathogenic
1	23846105	A	C	A23846105C	FUCA1	NM_000147.4(FUCA1):c.1229T>G:p.Leu410Arg	coding	Pathogenic
1	23848649	C	T	C23848649T	FUCA1	NM_000147.4(FUCA1):c.1160G>A:p.Trp387Ter	coding	Pathogenic
1	23848661	G	A	G23848661A	FUCA1	NM_000147.4(FUCA1):c.1148C>T:p.Thr383Ile	coding	Benign
1	23848671	C	A	C23848671A	FUCA1	NM_000147.4(FUCA1):c.1138G>T:p.Glu380Ter	coding	Pathogenic
1	23848682	C	T	C23848682T	FUCA1	NM_000147.4(FUCA1):c.1127G>A:p.Arg376Gln	coding	Benign
1	23848684	C	T	C23848684T	FUCA1	NM_000147.4(FUCA1):c.1125G>A:p.Trp375Ter	coding	Pathogenic
1	23848727	C	T	C23848727T	FUCA1	NM_000147.4(FUCA1):c.1082G>A:p.Trp361Ter	coding	Pathogenic
1	23848814	C	T	C23848814T	FUCA1	NM_000147.5(FUCA1):c.995G>A:p.Gly332Glu	coding	Pathogenic
1	23854359	C	T	C23854359T	FUCA1	NM_000147.4(FUCA1):c.969+1G>A	noncoding	Pathogenic
1	23854472	T	C	T23854472C	FUCA1	NM_000147.4(FUCA1):c.857A>G:p.Gln286Arg	coding	Benign
1	23854539	G	A	G23854539A	FUCA1	NM_000147.4(FUCA1):c.790C>T:p.Arg264Ter	coding	Pathogenic
1	23854687	C	T	C23854687T	FUCA1	NM_000147.4(FUCA1):c.769-127G>A	noncoding	Benign
1	23859797	C	T	C23859797T	FUCA1	NM_000147.5(FUCA1):c.768+1G>A	noncoding	Pathogenic
1	23863129	C	G	C23863129G	FUCA1	NM_000147.5(FUCA1):c.662+5G>C	noncoding	Pathogenic
1	23863148	G	A	G23863148A	FUCA1	NM_000147.4(FUCA1):c.648C>T:p.Tyr216=	coding	Benign/Likely_benign
1	23863148	G	T	G23863148T	FUCA1	NM_000147.4(FUCA1):c.648C>A:p.Tyr216Ter	coding	Pathogenic
1	23863232	C	T	C23863232T	FUCA1	NM_000147.4(FUCA1):c.564G>A:p.Trp188Ter	coding	Pathogenic
1	23865230	A	G	A23865230G	FUCA1	NM_000147.4(FUCA1):c.524+261T>C	noncoding	Benign
1	23865551	G	A	G23865551A	FUCA1	NM_000147.4(FUCA1):c.464C>T:p.Ser155Phe	coding	Pathogenic
1	23865578	G	A	G23865578A	FUCA1	NM_000147.4(FUCA1):c.437C>T:p.Pro146Leu	coding	Benign/Likely_benign
1	23865613	C	G	C23865613G	FUCA1	NM_000147.4(FUCA1):c.402G>C:p.Leu134Phe	coding	Benign/Likely_benign
1	23865622	A	T	A23865622T	FUCA1	NM_000147.4(FUCA1):c.393T>A:p.Tyr131Ter	coding	Pathogenic
1	23865710	A	G	A23865710G	FUCA1	NM_000147.4(FUCA1):c.390-85T>C	noncoding	Benign
1	23867960	C	T	C23867960T	FUCA1	NM_000147.4(FUCA1):c.327G>A:p.Gln109=	coding	Benign/Likely_benign
1	23868043	G	A	G23868043A	FUCA1	NM_000147.4(FUCA1):c.244C>T:p.Gln82Ter	coding	Pathogenic
1	23868220	C	G	C23868220G	FUCA1	NM_000147.4(FUCA1):c.67G>C:p.Gly23Arg	coding	Benign
1	23868258	G	C	G23868258C	FUCA1	NM_000147.4(FUCA1):c.29C>G:p.Pro10Arg	coding	Benign
1	23868280	C	G	C23868280G	FUCA1	NM_000147.4(FUCA1):c.7G>C:p.Ala3Pro	coding	Benign/Likely_benign
1	23868283	G	A	G23868283A	FUCA1	NM_000147.4(FUCA1):c.4C>T:p.Arg2Trp	coding	Benign
1	23868298	A	G	A23868298G	FUCA1	NM_000147.4(FUCA1):c.-12T>C	noncoding	Benign
1	23868372	A	C	A23868372C	FUCA1	NM_000147.4(FUCA1):c.-86T>G	noncoding	Benign/Likely_benign
1	23868408	C	A	C23868408A	FUCA1	NM_000147.4(FUCA1):c.-122G>T	noncoding	Benign
1	23874679	G	A	G23874679A	CNR2	NM_001841.3(CNR2):c.939C>T:p.Cys313=	coding	Benign
1	23875421	C	T	C23875421T	CNR2	NM_001841.3(CNR2):c.197G>A:p.Arg66Gln	coding	Benign
1	24121311	T	C	T24121311C	IL22RA1	NM_021258.4(IL22RA1):c.1219A>G:p.Met407Val	coding	Benign
1	24121342	C	T	C24121342T	IL22RA1	NM_021258.4(IL22RA1):c.1188G>A:p.Pro396=	coding	Benign
1	24134354	A	G	A24134354G	IL22RA1	NM_021258.4(IL22RA1):c.388T>C:p.Ser130Pro	coding	Benign
1	24159465	G	T	G24159465T	IFNLR1	NM_170743.4(IFNLR1):c.670+9C>A	noncoding	Benign
1	24169478	C	A	C24169478A	IFNLR1	NM_170743.4(IFNLR1):c.306G>T:p.Thr102=	coding	Benign
1	24169577	G	A	G24169577A	IFNLR1	NM_170743.4(IFNLR1):c.207C>T:p.Arg69=	coding	Benign
1	24331582	G	A	G24331582A	GRHL3	NM_198173.3(GRHL3):c.174G>A:p.Ala58=	coding	Benign
1	24336686	C	T	C24336686T	GRHL3	NM_198173.3(GRHL3):c.471C>T:p.Ala157=	coding	Benign
1	24336694	T	C	T24336694C	GRHL3	NM_198173.3(GRHL3):c.479T>C:p.Val160Ala	coding	Benign
1	24336722	T	C	T24336722C	GRHL3	NM_198173.3(GRHL3):c.507T>C:p.Asp169=	coding	Benign
1	24336821	A	T	A24336821T	GRHL3	NM_198173.3(GRHL3):c.606A>T:p.Pro202=	coding	Benign
1	24336836	G	A	G24336836A	GRHL3	NM_198173.3(GRHL3):c.612+9G>A	noncoding	Benign
1	24337687	C	T	C24337687T	GRHL3	NM_198173.3(GRHL3):c.738C>T:p.Gly246=	coding	Pathogenic
1	24337730	G	A	G24337730A	GRHL3	NM_198173.3(GRHL3):c.781G>A:p.Val261Ile	coding	Benign
1	24337749	C	G	C24337749G	GRHL3	NM_198173.3(GRHL3):c.800C>G:p.Ala267Gly	coding	Benign
1	24337790	G	T	G24337790T	GRHL3	NM_198173.3(GRHL3):c.840+1G>T	coding	Pathogenic
1	24338044	G	A	G24338044A	GRHL3	NM_198173.3(GRHL3):c.893G>A:p.Arg298His	coding	Pathogenic
1	24338050	G	A	G24338050A	GRHL3	NM_198173.3(GRHL3):c.899G>A:p.Trp300Ter	coding	Pathogenic
1	24342238	C	T	C24342238T	GRHL3	NM_198173.3(GRHL3):c.1171C>T:p.Arg391Cys	coding	Pathogenic
1	24342967	C	T	C24342967T	GRHL3	NM_198173.3(GRHL3):c.1361C>T:p.Thr454Met	coding	Benign
1	24342969	C	G	C24342969G	GRHL3	NM_198173.3(GRHL3):c.1363C>G:p.Pro455Ala	coding	Benign
1	24342974	C	T	C24342974T	GRHL3	NM_198173.3(GRHL3):c.1368C>T:p.Pro456=	coding	Benign
1	24343026	G	T	G24343026T	GRHL3	NM_198173.3(GRHL3):c.1419+1G>T	coding	Pathogenic
1	24344916	C	A	C24344916A	GRHL3	NM_198173.3(GRHL3):c.1439C>A:p.Pro480His	coding	Benign
1	24344928	A	G	A24344928G	GRHL3	NM_198173.3(GRHL3):c.1451A>G:p.Asn484Ser	coding	Benign
1	24364186	G	A	G24364186A	GRHL3	NM_001199013.2(STPG1):c.738-3145C>T	coding	Benign
1	24902248	G	A	G24902248A	RUNX3	NM_004350.3(RUNX3):c.1122C>T:p.Gly374=	coding	Benign
1	24927713	G	A	G24927713A	RUNX3	NM_004350.3(RUNX3):c.300C>T:p.Asp100=	coding	Benign
1	24964515	G	T	G24964515T	RUNX3	NM_001031680.2(RUNX3):c.57C>A:p.Arg19=	coding	Benign
1	25284753	T	C	T25284753C	RHD	NM_016124.4(RHD):c.329T>C:p.Leu110Pro	coding	Pathogenic
1	25290800	T	C	T25290800C	RHD	NM_016124.4(RHD):c.486+9T>C	noncoding	Benign
1	25301068	G	A	G25301068A	RHD	NM_016124.4(RHD):c.609G>A:p.Thr203=	coding	Benign
1	25301629	C	T	C25301629T	RHD	NM_016124.4(RHD):c.744C>T:p.Ser248=	coding	Benign
1	25303329	T	G	T25303329G	RHD	NM_016124.4(RHD):c.809T>G:p.Val270Gly	coding	Pathogenic
1	25385759	G	A	G25385759A	RHCE	NM_020485.5(RHCE):c.1025C>T:p.Thr342Ile	coding	Benign
1	25390838	T	C	T25390838C	RHCE	NM_020485.5(RHCE):c.712A>G:p.Met238Val	coding	Benign
1	25408764	G	C	G25408764C	RHCE	NM_020485.5(RHCE):c.254C>G:p.Ala85Gly	coding	Benign
1	25543653	G	C	G25543653C	LDLRAP1	NM_015627.2(LDLRAP1):c.-46G>C	noncoding	Benign
1	25543763	G	A	G25543763A	LDLRAP1	NM_015627.2(LDLRAP1):c.65G>A:p.Trp22Ter	coding	Pathogenic
1	25553921	G	C	G25553921C	LDLRAP1	NM_015627.2(LDLRAP1):c.89-1G>C	noncoding	Pathogenic
1	25557214	C	T	C25557214T	LDLRAP1	NM_015627.2(LDLRAP1):c.406C>T:p.Gln136Ter	coding	Pathogenic
1	25557237	C	A	C25557237A	LDLRAP1	NM_015627.2(LDLRAP1):c.429C>A:p.Cys143Ter	coding	Pathogenic
1	25557240	C	T	C25557240T	LDLRAP1	NM_015627.2(LDLRAP1):c.432C>T:p.His144=	coding	Benign/Likely_benign
1	25557269	T	G	T25557269G	LDLRAP1	NM_015627.2(LDLRAP1):c.459+2T>G	noncoding	Pathogenic
1	25563141	T	C	T25563141C	LDLRAP1	NM_015627.2(LDLRAP1):c.604T>C:p.Ser202Pro	coding	Benign
1	25563698	A	G	A25563698G	LDLRAP1	NM_015627.2(LDLRAP1):c.654A>G:p.Thr218=	coding	Benign
1	25566926	C	T	C25566926T	LDLRAP1	NM_015627.2(LDLRAP1):c.861C>T:p.Leu287=	coding	Benign/Likely_benign
1	25566928	C	T	C25566928T	LDLRAP1	NM_015627.2(LDLRAP1):c.863C>T:p.Ser288Leu	coding	Pathogenic
1	25567055	G	A	G25567055A	LDLRAP1	NM_015627.2(LDLRAP1):c.*63G>A	noncoding	Benign
1	25567588	C	T	C25567588T	LDLRAP1	NM_015627.3(LDLRAP1):c.*596C>T	noncoding	Benign
1	25568362	G	T	G25568362T	LDLRAP1	NM_015627.2(LDLRAP1):c.*1370G>T	noncoding	Benign
1	25568747	C	T	C25568747T	LDLRAP1	NM_015627.2(LDLRAP1):c.*1755C>T	noncoding	Benign
1	25568785	C	T	C25568785T	LDLRAP1	NM_015627.3(LDLRAP1):c.*1793C>T	noncoding	Benign
1	25568786	G	A	G25568786A	LDLRAP1	NM_015627.3(LDLRAP1):c.*1794G>A	noncoding	Benign
1	25568872	C	T	C25568872T	LDLRAP1	NM_015627.3(LDLRAP1):c.*1880C>T	noncoding	Benign
1	25617963	C	G	C25617963G	MAN1C1	NM_020379.3(MAN1C1):c.166C>G:p.Pro56Ala	coding	Benign
1	25749257	C	T	C25749257T	MAN1C1	NM_020379.3(MAN1C1):c.756C>T:p.Ser252=	coding	Benign
1	25799884	A	G	A25799884G	SELENON	NC_000001.11:g.25799884A>G	noncoding	Benign
1	25800231	A	G	A25800231G	SELENON	NM_020451.3(SELENON):c.1A>G:p.Met1Val	coding	Pathogenic
1	25800232	T	C	T25800232C	SELENON	NM_020451.3(SELENON):c.2T>C:p.Met1Thr	coding	Pathogenic
1	25800232	T	G	T25800232G	SELENON	NM_020451.3(SELENON):c.2T>G:p.Met1Arg	coding	Pathogenic
1	25800272	C	T	C25800272T	SELENON	NM_020451.3(SELENON):c.42C>T:p.Pro14=	coding	Benign
1	25800396	C	T	C25800396T	SELENON	NM_020451.3(SELENON):c.166C>T:p.Gln56Ter	coding	Pathogenic
1	25800529	G	A	G25800529A	SELENON	NM_020451.3(SELENON):c.183+116G>A	noncoding	Benign
1	25800711	T	G	T25800711G	SELENON	NM_020451.3(SELENON):c.183+298T>G	noncoding	Benign
1	25800712	T	C	T25800712C	SELENON	NM_020451.3(SELENON):c.183+299T>C	noncoding	Benign
1	25800934	G	A	G25800934A	SELENON	NM_020451.3(SELENON):c.184-109G>A	noncoding	Benign
1	25801161	G	T	G25801161T	SELENON	NM_020451.3(SELENON):c.301+1G>T	coding	Pathogenic
1	25801816	C	T	C25801816T	SELENON	NM_020451.3(SELENON):c.302-200C>T	noncoding	Benign
1	25804968	G	A	G25804968A	SELENON	NM_020451.3(SELENON):c.404-174G>A	noncoding	Benign
1	25805147	A	G	A25805147G	SELENON	NM_020451.3(SELENON):c.409A>G:p.Thr137Ala	coding	Benign
1	25805163	G	A	G25805163A	SELENON	NM_020451.3(SELENON):c.425G>A:p.Cys142Tyr	coding	Benign
1	25805219	C	T	C25805219T	SELENON	NM_020451.3(SELENON):c.481C>T:p.Arg161Ter	coding	Pathogenic
1	25808607	C	T	C25808607T	SELENON	NM_020451.3(SELENON):c.565C>T:p.Arg189Ter	coding	Pathogenic
1	25808622	G	C	G25808622C	SELENON	NM_020451.3(SELENON):c.580G>C:p.Ala194Pro	coding	Benign
1	25808625	G	A	G25808625A	SELENON	NM_020451.3(SELENON):c.583G>A:p.Ala195Thr	coding	Benign/Likely_benign
1	25808707	G	A	G25808707A	SELENON	NM_020451.3(SELENON):c.665G>A:p.Trp222Ter	coding	Pathogenic
1	25808828	C	T	C25808828T	SELENON	NM_020451.3(SELENON):c.747+39C>T	noncoding	Benign/Likely_benign
1	25809080	C	T	C25809080T	SELENON	NM_020451.3(SELENON):c.802C>T:p.Arg268Cys	coding	Pathogenic/Likely_pathogenic
1	25809092	C	T	C25809092T	SELENON	NM_020451.3(SELENON):c.814C>T:p.Gln272Ter	coding	Pathogenic
1	25809096	G	A	G25809096A	SELENON	NM_020451.3(SELENON):c.818G>A:p.Gly273Glu	coding	Pathogenic
1	25809124	C	T	C25809124T	SELENON	NM_020451.3(SELENON):c.846C>T:p.Ser282=	coding	Benign/Likely_benign
1	25809130	C	T	C25809130T	SELENON	NM_020451.3(SELENON):c.852C>T:p.Phe284=	coding	Benign/Likely_benign
1	25809150	G	A	G25809150A	SELENON	NM_020451.3(SELENON):c.872G>A:p.Arg291Gln	coding	Pathogenic/Likely_pathogenic
1	25809152	T	C	T25809152C	SELENON	NM_020451.3(SELENON):c.872+2T>C	noncoding	Pathogenic
1	25809422	T	C	T25809422C	SELENON	NM_020451.3(SELENON):c.873-261T>C	noncoding	Benign
1	25809692	C	T	C25809692T	SELENON	NM_020451.3(SELENON):c.882C>T:p.Ala294=	coding	Benign
1	25809731	G	A	G25809731A	SELENON	NM_020451.3(SELENON):c.921G>A:p.Trp307Ter	coding	Pathogenic
1	25809753	G	A	G25809753A	SELENON	NM_020451.3(SELENON):c.943G>A:p.Gly315Ser	coding	Pathogenic/Likely_pathogenic
1	25809791	C	T	C25809791T	SELENON	NM_020451.3(SELENON):c.981C>T:p.Arg327=	coding	Benign
1	25809821	G	A	G25809821A	SELENON	NM_020451.3(SELENON):c.1010+1G>A	coding	Pathogenic
1	25809892	A	G	A25809892G	SELENON	NM_020451.3(SELENON):c.1010+72A>G	noncoding	Benign
1	25809896	G	A	G25809896A	SELENON	NM_020451.3(SELENON):c.1010+76G>A	noncoding	Benign
1	25809961	A	C	A25809961C	SELENON	NM_020451.3(SELENON):c.1010+141A>C	noncoding	Benign
1	25811533	C	T	C25811533T	SELENON	NM_020451.3(SELENON):c.1090C>T:p.Gln364Ter	coding	Pathogenic
1	25811541	C	G	C25811541G	SELENON	NM_020451.3(SELENON):c.1092+6C>G	noncoding	Benign/Likely_benign
1	25811645	C	A	C25811645A	SELENON	NM_020451.3(SELENON):c.1093-46C>A	noncoding	Benign
1	25811694	G	T	G25811694T	SELENON	NM_020451.3(SELENON):c.1096G>T:p.Glu366Ter	coding	Pathogenic
1	25811760	A	G	A25811760G	SELENON	NM_020451.3(SELENON):c.1162A>G:p.Ser388Gly	coding	Benign/Likely_benign
1	25811771	T	C	T25811771C	SELENON	NM_020451.3(SELENON):c.1173T>C:p.Pro391=	coding	Benign
1	25811778	G	T	G25811778T	SELENON	NM_020451.3(SELENON):c.1180G>T:p.Glu394Ter	coding	Pathogenic
1	25811960	A	G	A25811960G	SELENON	NM_020451.3(SELENON):c.1281+81A>G	noncoding	Benign
1	25812646	C	T	C25812646T	SELENON	NM_020451.3(SELENON):c.1282-41C>T	noncoding	Benign
1	25812720	C	T	C25812720T	SELENON	NM_020451.3(SELENON):c.1315C>T:p.Arg439Ter	coding	Pathogenic
1	25812763	G	C	G25812763C	SELENON	NM_020451.3(SELENON):c.1358G>C:p.Trp453Ser	coding	Pathogenic
1	25812780	C	T	C25812780T	SELENON	NM_020451.3(SELENON):c.1375C>T:p.Gln459Ter	coding	Pathogenic
1	25812789	T	G	T25812789G	SELENON	NM_020451.3(SELENON):c.1384T>G	coding	Pathogenic
1	25812790	G	A	G25812790A	SELENON	NM_020451.2(SELENON):c.1385G>A:p.Sec462=	coding	Pathogenic
1	25812803	C	T	C25812803T	SELENON	NM_020451.3(SELENON):c.1387+11C>T	noncoding	Benign
1	25812901	A	G	A25812901G	SELENON	NM_020451.3(SELENON):c.1387+109A>G	noncoding	Benign
1	25812953	G	A	G25812953A	SELENON	NM_020451.3(SELENON):c.1387+161G>A	noncoding	Benign
1	25813890	G	A	G25813890A	SELENON	NM_020451.3(SELENON):c.1397G>A:p.Arg466Gln	coding	Pathogenic/Likely_pathogenic
1	25813899	G	A	G25813899A	SELENON	NM_020451.3(SELENON):c.1406G>A:p.Arg469Gln	coding	Pathogenic
1	25813948	C	T	C25813948T	SELENON	NM_020451.3(SELENON):c.1455C>T:p.Ser485=	coding	Benign/Likely_benign
1	25813962	G	A	G25813962A	SELENON	NM_020451.3(SELENON):c.1469G>A:p.Trp490Ter	coding	Pathogenic
1	25814046	C	T	C25814046T	SELENON	NM_020451.3(SELENON):c.1501-31C>T	noncoding	Benign/Likely_benign
1	25814082	C	A	C25814082A	SELENON	NM_020451.3(SELENON):c.1506C>A:p.Asn502Lys	coding	Benign
1	25815312	G	T	G25815312T	SELENON	NM_020451.3(SELENON):c.1603-236G>T	noncoding	Benign
1	25815590	G	A	G25815590A	SELENON	NM_020451.3(SELENON):c.1645G>A:p.Val549Met	coding	Benign/Likely_benign
1	25815690	G	A	G25815690A	SELENON	NM_020451.3(SELENON):c.1745G>A:p.Arg582Gln	coding	Benign
1	25815862	C	G	C25815862G	SELENON	NM_020451.3(SELENON):c.*144C>G	noncoding	Benign
1	25815946	C	T	C25815946T	SELENON	NM_020451.3(SELENON):c.*228C>T	noncoding	Benign
1	25816219	G	A	G25816219A	SELENON	NM_020451.3(SELENON):c.*501G>A	noncoding	Benign
1	25816416	T	C	T25816416C	SELENON	NM_020451.3(SELENON):c.*698T>C	noncoding	Benign
1	25817218	G	A	G25817218A	SELENON	NM_020451.3(SELENON):c.*1500G>A	noncoding	Benign
1	25817330	T	C	T25817330C	SELENON	NM_020451.3(SELENON):c.*1612T>C	noncoding	Benign
1	25817440	T	C	T25817440C	SELENON	NM_020451.3(SELENON):c.*1722T>C	noncoding	Benign
1	25817761	G	T	G25817761T	SELENON	NM_020451.3(SELENON):c.*2043G>T	noncoding	Benign
1	25817848	C	T	C25817848T	SELENON	NM_020451.3(SELENON):c.*2130C>T	noncoding	Benign
1	25818183	G	A	G25818183A	SELENON	NM_020451.3(SELENON):c.*2465G>A	noncoding	Benign
1	26039829	A	G	A26039829G	SLC30A2	NM_001004434.3(SLC30A2):c.921T>C:p.His307=	coding	Benign
1	26045009	C	T	C26045009T	SLC30A2	NM_001004434.3(SLC30A2):c.259G>A:p.Gly87Arg	coding	Pathogenic
1	26045107	T	C	T26045107C	SLC30A2	NM_001004434.3(SLC30A2):c.161A>G:p.His54Arg	coding	Pathogenic
1	26060369	G	A	G26060369A	TRIM63	NM_032588.3(TRIM63):c.502-8C>T	noncoding	Benign
1	26066438	A	C	A26066438C	TRIM63	NM_032588.3(TRIM63):c.162T>G:p.Ala54=	coding	Benign
1	26067360	C	G	C26067360G	TRIM63	NM_032588.3(TRIM63):c.135G>C:p.Arg45=	coding	Benign
1	26177556	G	A	G26177556A	CNKSR1	NM_006314.3(CNKSR1):c.9G>A:p.Pro3=	coding	Benign
1	26180741	G	A	G26180741A	CNKSR1	NM_006314.3(CNKSR1):c.237G>A:p.Leu79=	coding	Benign
1	26181848	C	T	C26181848T	CNKSR1	NM_006314.3(CNKSR1):c.393-9C>T	noncoding	Benign
1	26183826	C	G	C26183826G	CNKSR1	NM_006314.3(CNKSR1):c.851C>G:p.Pro284Arg	coding	Benign
1	26184441	G	A	G26184441A	CNKSR1	NM_006314.3(CNKSR1):c.1041G>A:p.Pro347=	coding	Benign
1	26185131	G	A	G26185131A	CNKSR1	NM_006314.3(CNKSR1):c.1253G>A:p.Arg418His	coding	Benign
1	26187449	T	C	T26187449C	CNKSR1	NM_006314.3(CNKSR1):c.1421T>C:p.Ile474Thr	coding	Benign
1	26187466	C	T	C26187466T	CNKSR1	NM_006314.3(CNKSR1):c.1438C>T:p.Leu480=	coding	Benign
1	26187492	G	A	G26187492A	CNKSR1	NM_006314.3(CNKSR1):c.1454+10G>A	noncoding	Benign
1	26188678	C	T	C26188678T	CNKSR1	NM_006314.3(CNKSR1):c.1671C>T:p.Thr557=	coding	Benign
1	26188816	C	A	C26188816A	CNKSR1	NM_006314.3(CNKSR1):c.1735C>A:p.Gln579Lys	coding	Benign
1	26188925	G	A	G26188925A	CNKSR1	NM_006314.3(CNKSR1):c.1844G>A:p.Arg615His	coding	Benign
1	26189369	C	T	C26189369T	CNKSR1	NM_006314.3(CNKSR1):c.1963C>T:p.Arg655Trp	coding	Benign
1	26189465	C	T	C26189465T	CNKSR1	NM_006314.3(CNKSR1):c.2059C>T:p.His687Tyr	coding	Benign
1	26198363	C	T	C26198363T	CATSPER4	NM_198137.2(CATSPER4):c.756C>T:p.Tyr252=	coding	Benign
1	26200877	T	C	T26200877C	CATSPER4	NM_198137.2(CATSPER4):c.1035T>C:p.His345=	coding	Benign
1	26201405	G	A	G26201405A	CATSPER4	NM_198137.2(CATSPER4):c.1251G>A:p.Glu417=	coding	Benign
1	26244253	G	A	G26244253A	CEP85	NM_001319944.2(CEP85):c.143G>A:p.Arg48His	coding	Benign
1	26244269	C	A	C26244269A	CEP85	NM_001319944.2(CEP85):c.159C>A:p.Ala53=	coding	Benign
1	26255490	G	A	G26255490A	CEP85	NM_001319944.2(CEP85):c.528G>A:p.Ala176=	coding	Benign
1	26259676	G	T	G26259676T	CEP85	NM_001319944.2(CEP85):c.1215G>T:p.Leu405Phe	coding	Benign
1	26272017	T	G	T26272017G	CEP85	NM_001319944.2(CEP85):c.1744-4T>G	noncoding	Benign
1	26411441	C	G	C26411441G	LIN28A	NM_024674.6(LIN28A):c.87C>G:p.Ala29=	coding	Benign
1	26432282	G	A	G26432282A	DHDDS	NM_024887.3(DHDDS):c.-150G>A	noncoding	Benign
1	26438217	G	A	G26438217A	DHDDS	NM_205861.3(DHDDS):c.113G>A:p.Arg38His	coding	Pathogenic
1	26438228	A	G	A26438228G	DHDDS	NM_205861.3(DHDDS):c.124A>G:p.Lys42Glu	coding	Pathogenic
1	26442742	G	A	G26442742A	DHDDS	NM_205861.3(DHDDS):c.192G>A:p.Trp64Ter	coding	Pathogenic
1	26446306	C	T	C26446306T	DHDDS	NM_205861.3(DHDDS):c.324-10C>T	noncoding	Benign
1	26447535	A	G	A26447535G	DHDDS	NM_205861.3(DHDDS):c.441-24A>G	noncoding	Pathogenic
1	26447668	G	A	G26447668A	DHDDS	NM_205861.3(DHDDS):c.542+8G>A	noncoding	Benign
1	26457880	G	A	G26457880A	DHDDS	NM_205861.3(DHDDS):c.632G>A:p.Arg211Gln	coding	Pathogenic
1	26460136	G	A	G26460136A	DHDDS	NM_205861.3(DHDDS):c.757G>A:p.Val253Met	coding	Benign
1	26471017	C	T	C26471017T	DHDDS	NM_205861.3(DHDDS):c.*1886C>T	noncoding	Benign
1	26471163	C	T	C26471163T	DHDDS	NM_205861.3(DHDDS):c.*2032C>T	noncoding	Benign
1	26697534	C	T	C26697534T	ARID1A	NM_006015.6(ARID1A):c.1131C>T:p.Thr377=	coding	Benign
1	26729701	C	T	C26729701T	ARID1A	NM_006015.6(ARID1A):c.1188C>T:p.Gly396=	coding	Benign
1	26729720	C	T	C26729720T	ARID1A	NM_006015.6(ARID1A):c.1207C>T:p.Gln403Ter	coding	Pathogenic
1	26729861	C	T	C26729861T	ARID1A	NM_006015.6(ARID1A):c.1348C>T:p.Gln450Ter	coding	Pathogenic
1	26731191	C	T	C26731191T	ARID1A	NM_006015.6(ARID1A):c.1390C>T:p.Gln464Ter	coding	Pathogenic
1	26731398	C	T	C26731398T	ARID1A	NM_006015.6(ARID1A):c.1597C>T:p.Pro533Ser	coding	Benign
1	26731403	C	A	C26731403A	ARID1A	NM_006015.6(ARID1A):c.1602C>A:p.Tyr534Ter	coding	Pathogenic
1	26761058	A	C	A26761058C	ARID1A	NM_006015.6(ARID1A):c.2123A>C:p.Gln708Pro	coding	Benign/Likely_benign
1	26762202	G	A	G26762202A	ARID1A	NM_006015.6(ARID1A):c.2302G>A:p.Gly768Ser	coding	Benign
1	26763094	C	A	C26763094A	ARID1A	NM_006015.6(ARID1A):c.2541C>A:p.Ile847=	coding	Benign
1	26766246	C	T	C26766246T	ARID1A	NM_006015.6(ARID1A):c.2758C>T:p.Gln920Ter	coding	Pathogenic
1	26766456	G	A	G26766456A	ARID1A	NM_006015.6(ARID1A):c.2879-1G>A	noncoding	Pathogenic
1	26766567	G	A	G26766567A	ARID1A	NM_006015.6(ARID1A):c.2988+1G>A	coding	Pathogenic
1	26767862	A	G	A26767862G	ARID1A	NM_006015.6(ARID1A):c.3061A>G:p.Lys1021Glu	coding	Pathogenic
1	26767997	C	T	C26767997T	ARID1A	NM_006015.6(ARID1A):c.3196C>T:p.Gln1066Ter	coding	Pathogenic
1	26772951	G	T	G26772951T	ARID1A	NM_006015.6(ARID1A):c.3679G>T:p.Glu1227Ter	coding	Pathogenic
1	26773392	C	T	C26773392T	ARID1A	NM_006015.6(ARID1A):c.3762C>T:p.Gly1254=	coding	Benign
1	26773422	C	T	C26773422T	ARID1A	NM_006015.6(ARID1A):c.3792C>T:p.Ala1264=	coding	Benign
1	26773716	C	T	C26773716T	ARID1A	NM_006015.6(ARID1A):c.4003C>T:p.Arg1335Ter	coding	Pathogenic
1	26775584	G	A	G26775584A	ARID1A	NM_006015.6(ARID1A):c.5001G>A:p.Pro1667=	coding	Benign
1	26775659	C	T	C26775659T	ARID1A	NM_006015.6(ARID1A):c.5076C>T:p.Asn1692=	coding	Benign
1	26775697	A	G	A26775697G	ARID1A	NM_006015.6(ARID1A):c.5114A>G:p.Asn1705Ser	coding	Benign
1	26779062	C	T	C26779062T	ARID1A	NM_006015.6(ARID1A):c.5164C>T:p.Arg1722Ter	coding	Pathogenic
1	26779429	G	A	G26779429A	ARID1A	NM_006015.6(ARID1A):c.5531G>A:p.Trp1844Ter	coding	Pathogenic
1	26779615	G	A	G26779615A	ARID1A	NM_006015.6(ARID1A):c.5717G>A:p.Arg1906Gln	coding	Benign/Likely_benign
1	26779615	G	C	G26779615C	ARID1A	NM_006015.6(ARID1A):c.5717G>C:p.Arg1906Pro	coding	Benign
1	26779863	C	T	C26779863T	ARID1A	NM_006015.6(ARID1A):c.5965C>T:p.Arg1989Ter	coding	Pathogenic
1	26780484	C	T	C26780484T	ARID1A	NM_006015.6(ARID1A):c.6586C>T:p.Leu2196=	coding	Benign
1	26787988	A	C	A26787988C	PIGV	NM_017837.3(PIGV):c.-338A>C	noncoding	Benign
1	26787993	C	T	C26787993T	PIGV	NM_017837.3(PIGV):c.-333C>T	noncoding	Benign
1	26794135	C	T	C26794135T	PIGV	NM_017837.3(PIGV):c.101C>T:p.Pro34Leu	coding	Benign
1	26794528	C	A	C26794528A	PIGV	NM_017837.3(PIGV):c.494C>A:p.Ala165Glu	coding	Pathogenic
1	26794641	C	T	C26794641T	PIGV	NM_017837.4(PIGV):c.607C>T:p.Arg203Cys	coding	Pathogenic/Likely_pathogenic
1	26794649	C	T	C26794649T	PIGV	NM_017837.3(PIGV):c.615C>T:p.Asn205=	coding	Benign/Likely_benign
1	26794800	C	A	C26794800A	PIGV	NM_017837.3(PIGV):c.766C>A:p.Gln256Lys	coding	Pathogenic
1	26795056	C	A	C26795056A	PIGV	NM_017837.3(PIGV):c.1022C>A:p.Ala341Glu	coding	Pathogenic/Likely_pathogenic
1	26795056	C	T	C26795056T	PIGV	NM_017837.3(PIGV):c.1022C>T:p.Ala341Val	coding	Pathogenic
1	26795188	A	C	A26795188C	PIGV	NM_017837.3(PIGV):c.1154A>C:p.His385Pro	coding	Pathogenic
1	26795430	C	A	C26795430A	PIGV	NM_017837.3(PIGV):c.1200+196C>A	noncoding	Benign
1	26797373	G	A	G26797373A	PIGV	NM_017837.3(PIGV):c.1201-190G>A	noncoding	Benign
1	26797993	G	A	G26797993A	PIGV	NM_017837.3(PIGV):c.*149G>A	noncoding	Benign
1	26798011	G	A	G26798011A	PIGV	NM_017837.4(PIGV):c.*167G>A	noncoding	Benign
1	26798054	A	G	A26798054G	PIGV	NM_017837.3(PIGV):c.*210A>G	noncoding	Benign
1	26912036	C	A	C26912036A	NR0B2	NM_021969.3(NR0B2):c.583G>T:p.Ala195Ser	coding	Pathogenic
1	26913429	C	G	C26913429G	NR0B2	NM_021969.3(NR0B2):c.512G>C:p.Gly171Ala	coding	Benign
1	26913468	C	T	C26913468T	NR0B2	NM_021969.3(NR0B2):c.473G>A:p.Ser158Asn	coding	Benign
1	26913841	G	A	G26913841A	NR0B2	NM_021969.3(NR0B2):c.100C>T:p.Arg34Ter	coding	Pathogenic
1	26913928	G	C	G26913928C	NR0B2	NM_021969.3(NR0B2):c.13C>G:p.Gln5Glu	coding	Benign
1	26950762	G	A	G26950762A	KDF1	NM_152365.3(KDF1):c.1040-6C>T	noncoding	Benign
1	26951628	G	T	G26951628T	KDF1	NM_152365.3(KDF1):c.753C>A:p.Phe251Leu	coding	Pathogenic
1	26951815	T	C	T26951815C	KDF1	NM_152365.3(KDF1):c.566A>G:p.Lys189Arg	coding	Benign
1	26951948	G	A	G26951948A	KDF1	NM_152365.3(KDF1):c.433C>T:p.Arg145Trp	coding	Benign
1	26952180	C	T	C26952180T	KDF1	NM_152365.3(KDF1):c.201G>A:p.Pro67=	coding	Benign
1	27101227	T	C	T27101227C	SLC9A1	NM_003047.5(SLC9A1):c.2086A>G:p.Met696Val	coding	Benign
1	27102130	C	T	C27102130T	SLC9A1	NM_003047.5(SLC9A1):c.1821G>A:p.Gln607=	coding	Benign
1	27102432	G	A	G27102432A	SLC9A1	NM_003047.5(SLC9A1):c.1773C>T:p.Ser591=	coding	Benign
1	27106014	G	A	G27106014A	SLC9A1	NM_003047.5(SLC9A1):c.1356C>T:p.Ile452=	coding	Benign
1	27109678	C	T	C27109678T	SLC9A1	NM_003047.5(SLC9A1):c.913G>A:p.Gly305Arg	coding	Pathogenic
1	27114009	G	A	G27114009A	SLC9A1	NM_003047.5(SLC9A1):c.630C>T:p.Ala210=	coding	Benign
1	27114120	C	T	C27114120T	SLC9A1	NM_003047.5(SLC9A1):c.519G>A:p.Ala173=	coding	Benign
1	27261060	G	A	G27261060A	WDTC1	NM_001276252.2(WDTC1):c.6G>A:p.Ala2=	coding	Benign
1	27263242	G	T	G27263242T	WDTC1	NM_001276252.2(WDTC1):c.132+7G>T	noncoding	Benign
1	27296373	C	T	C27296373T	WDTC1	NM_001276252.2(WDTC1):c.921C>T:p.Leu307=	coding	Benign
1	27297076	C	T	C27297076T	WDTC1	NM_001276252.2(WDTC1):c.978C>T:p.Asn326=	coding	Benign
1	27305181	C	T	C27305181T	WDTC1	NM_001276252.2(WDTC1):c.1824C>T:p.Asn608=	coding	Benign
1	27355710	G	A	G27355710A	MAP3K6	NM_004672.5(MAP3K6):c.3747C>T:p.Leu1249=	coding	Benign
1	27356689	T	C	T27356689C	MAP3K6	NM_004672.5(MAP3K6):c.3425A>G:p.Gln1142Arg	coding	Benign
1	27358172	T	A	T27358172A	MAP3K6	NM_004672.5(MAP3K6):c.2915+9A>T	noncoding	Benign
1	27358309	A	G	A27358309G	MAP3K6	NM_004672.5(MAP3K6):c.2787T>C:p.Ser929=	coding	Benign
1	27360975	G	T	G27360975T	MAP3K6	NM_004672.5(MAP3K6):c.1866C>A:p.Asn622Lys	coding	Benign
1	27361788	G	A	G27361788A	MAP3K6	NM_004672.5(MAP3K6):c.1495C>T:p.Arg499Cys	coding	Benign
1	27362681	G	A	G27362681A	MAP3K6	NM_004672.5(MAP3K6):c.1215C>T:p.Ala405=	coding	Benign
1	27364279	A	C	A27364279C	MAP3K6	NM_004672.5(MAP3K6):c.620T>G:p.Val207Gly	coding	Benign
1	27369386	G	A	G27369386A	FCN3	NM_003665.3(FCN3):c.750C>T:p.His250=	coding	Benign
1	27547334	G	A	G27547334A	AHDC1	NM_001371928.1(AHDC1):c.4782C>T:p.Pro1594=	coding	Benign
1	27547583	C	T	C27547583T	AHDC1	NM_001371928.1(AHDC1):c.4533G>A:p.Thr1511=	coding	Benign
1	27547732	T	G	T27547732G	AHDC1	NM_001371928.1(AHDC1):c.4384A>C:p.Lys1462Gln	coding	Benign
1	27547748	G	A	G27547748A	AHDC1	NM_001371928.1(AHDC1):c.4368C>T:p.Tyr1456=	coding	Benign
1	27547916	G	A	G27547916A	AHDC1	NM_001371928.1(AHDC1):c.4200C>T:p.Pro1400=	coding	Benign
1	27547938	C	T	C27547938T	AHDC1	NM_001371928.1(AHDC1):c.4178G>A:p.Gly1393Asp	coding	Benign
1	27548302	G	A	G27548302A	AHDC1	NM_001029882.3(AHDC1):c.3814C>T:p.Arg1272Ter	coding	Pathogenic
1	27548486	C	A	C27548486A	AHDC1	NM_001029882.3(AHDC1):c.3630G>T:p.Glu1210Asp	coding	Benign
1	27548493	C	T	C27548493T	AHDC1	NM_001371928.1(AHDC1):c.3623G>A:p.Trp1208Ter	coding	Pathogenic
1	27548544	C	T	C27548544T	AHDC1	NM_001371928.1(AHDC1):c.3572G>A:p.Ser1191Asn	coding	Benign
1	27548619	G	C	G27548619C	AHDC1	NM_001029882.3(AHDC1):c.3497C>G:p.Ser1166Ter	coding	Pathogenic
1	27548650	G	A	G27548650A	AHDC1	NM_001029882.3(AHDC1):c.3466C>T:p.Gln1156Ter	coding	Pathogenic
1	27548732	G	T	G27548732T	AHDC1	NM_001371928.1(AHDC1):c.3384C>A:p.Tyr1128Ter	coding	Pathogenic
1	27548808	G	A	G27548808A	AHDC1	NM_001371928.1(AHDC1):c.3308C>T:p.Ala1103Val	coding	Benign
1	27548852	G	A	G27548852A	AHDC1	NM_001371928.1(AHDC1):c.3264C>T:p.Ser1088=	coding	Benign
1	27548876	A	G	A27548876G	AHDC1	NM_001371928.1(AHDC1):c.3240T>C:p.Ser1080=	coding	Benign
1	27548912	G	C	G27548912C	AHDC1	NM_001029882.3(AHDC1):c.3204C>G:p.Tyr1068Ter	coding	Pathogenic
1	27549062	G	A	G27549062A	AHDC1	NM_001371928.1(AHDC1):c.3054C>T:p.Ala1018=	coding	Benign
1	27549084	G	T	G27549084T	AHDC1	NM_001371928.1(AHDC1):c.3032C>A:p.Ser1011Ter	coding	Pathogenic
1	27549140	G	A	G27549140A	AHDC1	NM_001371928.1(AHDC1):c.2976C>T:p.Cys992=	coding	Benign
1	27549208	G	A	G27549208A	AHDC1	NM_001029882.3(AHDC1):c.2908C>T:p.Gln970Ter	coding	Pathogenic
1	27549289	T	G	T27549289G	AHDC1	NM_001371928.1(AHDC1):c.2827A>C:p.Thr943Pro	coding	Benign
1	27549293	G	A	G27549293A	AHDC1	NM_001371928.1(AHDC1):c.2823C>T:p.Ala941=	coding	Benign
1	27549343	G	A	G27549343A	AHDC1	NM_001029882.3(AHDC1):c.2773C>T:p.Arg925Ter	coding	Pathogenic/Likely_pathogenic
1	27549371	C	T	C27549371T	AHDC1	NM_001371928.1(AHDC1):c.2745G>A:p.Leu915=	coding	Benign
1	27549482	G	A	G27549482A	AHDC1	NM_001371928.1(AHDC1):c.2634C>T:p.Ala878=	coding	Benign
1	27549578	C	T	C27549578T	AHDC1	NM_001371928.1(AHDC1):c.2538G>A:p.Ser846=	coding	Benign
1	27549694	T	C	T27549694C	AHDC1	NM_001371928.1(AHDC1):c.2422A>G:p.Ser808Gly	coding	Benign
1	27549751	G	A	G27549751A	AHDC1	NM_001371928.1(AHDC1):c.2365C>T:p.Arg789Ter	coding	Pathogenic
1	27549789	C	T	C27549789T	AHDC1	NM_001029882.3(AHDC1):c.2327G>A:p.Trp776Ter	coding	Pathogenic
1	27549928	C	A	C27549928A	AHDC1	NM_001371928.1(AHDC1):c.2188G>T:p.Glu730Ter	coding	Pathogenic
1	27550054	G	A	G27550054A	AHDC1	NM_001029882.3(AHDC1):c.2062C>T:p.Arg688Ter	coding	Pathogenic
1	27550357	G	A	G27550357A	AHDC1	NM_001029882.3(AHDC1):c.1759C>T:p.Arg587Ter	coding	Pathogenic
1	27550508	G	A	G27550508A	AHDC1	NM_001371928.1(AHDC1):c.1608C>T:p.Pro536=	coding	Benign
1	27550597	T	A	T27550597A	AHDC1	NM_001029882.3(AHDC1):c.1519A>T:p.Lys507Ter	coding	Pathogenic
1	27550606	C	T	C27550606T	AHDC1	NM_001029882.3(AHDC1):c.1510G>A:p.Val504Met	coding	Benign/Likely_benign
1	27550705	C	T	C27550705T	AHDC1	NM_001029882.3(AHDC1):c.1411G>A:p.Val471Met	coding	Benign/Likely_benign
1	27550706	G	A	G27550706A	AHDC1	NM_001371928.1(AHDC1):c.1410C>T:p.Gly470=	coding	Benign
1	27551137	G	A	G27551137A	AHDC1	NM_001029882.3(AHDC1):c.979C>T:p.Gln327Ter	coding	Pathogenic
1	27551246	C	T	C27551246T	AHDC1	NM_001371928.1(AHDC1):c.870G>A:p.Pro290=	coding	Benign
1	27551284	G	A	G27551284A	AHDC1	NM_001371928.1(AHDC1):c.832C>T:p.Pro278Ser	coding	Benign
1	27551305	G	C	G27551305C	AHDC1	NM_001029882.3(AHDC1):c.811C>G:p.Pro271Ala	coding	Benign/Likely_benign
1	27551334	G	A	G27551334A	AHDC1	NM_001371928.1(AHDC1):c.782C>T:p.Ala261Val	coding	Benign
1	27551345	C	T	C27551345T	AHDC1	NM_001371928.1(AHDC1):c.771G>A:p.Gln257=	coding	Benign
1	27551555	G	A	G27551555A	AHDC1	NM_001371928.1(AHDC1):c.561C>T:p.His187=	coding	Benign
1	27551646	G	A	G27551646A	AHDC1	NM_001371928.1(AHDC1):c.470C>T:p.Ala157Val	coding	Benign
1	27551904	G	A	G27551904A	AHDC1	NM_001029882.3(AHDC1):c.212C>T:p.Thr71Ile	coding	Benign/Likely_benign
1	27617014	G	C	G27617014C	FGR	NM_005248.3(FGR):c.533-8C>G	noncoding	Benign
1	27621621	G	A	G27621621A	FGR	NM_005248.3(FGR):c.366C>T:p.Ser122=	coding	Benign
1	27879739	T	C	T27879739C	THEMIS2	NM_001105556.3(THEMIS2):c.331T>C:p.Phe111Leu	coding	Benign
1	27954460	G	A	G27954460A	SMPDL3B	NM_014474.4(SMPDL3B):c.624G>A:p.Ala208=	coding	Benign
1	27958612	G	A	G27958612A	SMPDL3B	NM_014474.4(SMPDL3B):c.1142G>A:p.Arg381His	coding	Benign
1	28000058	C	T	C28000058T	EYA3	NM_001990.4(EYA3):c.994-9G>A	noncoding	Benign
1	28150202	C	T	C28150202T	PTAFR	NM_000952.5(PTAFR):c.820G>A:p.Ala274Thr	coding	Benign
1	28271718	G	A	G28271718A	SESN2	NM_031459.5(SESN2):c.201G>A:p.Leu67=	coding	Benign
1	28271776	C	T	C28271776T	SESN2	NM_031459.5(SESN2):c.259C>T:p.Pro87Ser	coding	Benign
1	28273387	G	A	G28273387A	SESN2	NM_031459.5(SESN2):c.780G>A:p.Ala260=	coding	Benign
1	28273441	G	A	G28273441A	SESN2	NM_031459.5(SESN2):c.834G>A:p.Thr278=	coding	Benign
1	28273450	G	A	G28273450A	SESN2	NM_031459.5(SESN2):c.843G>A:p.Glu281=	coding	Benign
1	28274063	C	T	C28274063T	SESN2	NM_031459.5(SESN2):c.925C>T:p.His309Tyr	coding	Benign
1	28274096	A	G	A28274096G	SESN2	NM_031459.5(SESN2):c.958A>G:p.Thr320Ala	coding	Benign
1	28274896	T	C	T28274896C	SESN2	NM_031459.5(SESN2):c.1092T>C:p.Asp364=	coding	Benign
1	28987461	G	A	G28987461A	EPB41	NM_001376013.1(EPB41):c.24G>A:p.Val8=	coding	Benign
1	28993489	A	G	A28993489G	EPB41	NM_004437.4(EPB41):c.1A>G:p.Met1Val	coding	Pathogenic
1	28993490	T	C	T28993490C	EPB41	NM_004437.4(EPB41):c.2T>C:p.Met1Thr	coding	Pathogenic
1	28993490	T	G	T28993490G	EPB41	NM_004437.4(EPB41):c.2T>G:p.Met1Arg	coding	Pathogenic
1	28993527	T	G	T28993527G	EPB41	NM_004437.4(EPB41):c.39T>G:p.Tyr13Ter	coding	Pathogenic
1	29015733	C	T	C29015733T	EPB41	NM_004437.4(EPB41):c.244C>T:p.Pro82Ser	coding	Benign
1	29039234	T	C	T29039234C	EPB41	NM_001376013.1(EPB41):c.1464-20T>C	noncoding	Benign
1	29064993	G	A	G29064993A	EPB41	NM_001376013.1(EPB41):c.2019G>A:p.Lys673=	coding	Benign
1	29196234	A	C	A29196234C	MECR	NM_016011.5(MECR):c.855T>G:p.Tyr285Ter	coding	Pathogenic/Likely_pathogenic
1	29196235	T	C	T29196235C	MECR	NM_016011.5(MECR):c.854A>G:p.Tyr285Cys	coding	Pathogenic/Likely_pathogenic
1	29200516	G	A	G29200516A	MECR	NM_016011.5(MECR):c.830C>T:p.Ala277Val	coding	Benign/Likely_benign
1	29200573	C	A	C29200573A	MECR	NM_016011.5(MECR):c.773G>T:p.Arg258Leu	coding	Benign
1	29200574	G	A	G29200574A	MECR	NM_016011.4(MECR):c.772C>T:p.Arg258Trp	coding	Pathogenic
1	29202019	C	T	C29202019T	MECR	NM_016011.5(MECR):c.680G>A:p.Arg227Lys	coding	Benign
1	29202029	G	A	G29202029A	MECR	NM_016011.5(MECR):c.670C>T:p.Leu224=	coding	Benign/Likely_benign
1	30715172	T	G	T30715172G	MATN1	NM_002379.3(MATN1):c.1345A>C:p.Lys449Gln	coding	Benign
1	30716213	G	A	G30716213A	MATN1	NM_002379.3(MATN1):c.903C>T:p.Ile301=	coding	Benign
1	30716842	G	A	G30716842A	MATN1	NM_002379.3(MATN1):c.738C>T:p.Thr246=	coding	Benign
1	30721692	C	T	C30721692T	MATN1	NM_002379.3(MATN1):c.154G>A:p.Val52Ile	coding	Benign
1	30874592	C	A	C30874592A	SDC3	NM_014654.4(SDC3):c.871-4G>T	noncoding	Benign
1	30876830	C	T	C30876830T	SDC3	NM_014654.4(SDC3):c.592G>A:p.Ala198Thr	coding	Benign
1	30877136	C	T	C30877136T	SDC3	NM_014654.4(SDC3):c.286G>A:p.Ala96Thr	coding	Benign
1	30878663	A	G	A30878663G	SDC3	NM_014654.4(SDC3):c.216T>C:p.Asp72=	coding	Benign
1	30933339	G	A	G30933339A	PUM1	NM_001020658.2(PUM1):c.3439C>T:p.Arg1147Trp	coding	Pathogenic/Likely_pathogenic
1	30950256	G	A	G30950256A	PUM1	NM_001020658.2(PUM1):c.2727C>T:p.Gly909=	coding	Benign
1	31367444	G	A	G31367444A	FABP3	NM_004102.5(FABP3):c.297C>T:p.Asp99=	coding	Benign
1	31424709	C	T	C31424709T	SERINC2	NM_178865.5(SERINC2):c.228C>T:p.Ala76=	coding	Benign
1	31424740	G	A	G31424740A	SERINC2	NM_178865.5(SERINC2):c.259G>A:p.Asp87Asn	coding	Benign
1	31619542	C	T	C31619542T	HCRTR1	NM_001525.2(HCRTR1):c.210C>T:p.Ala70=	coding	Benign
1	31619569	A	G	A31619569G	HCRTR1	NM_001525.2(HCRTR1):c.237A>G:p.Thr79=	coding	Benign
1	31623620	G	A	G31623620A	HCRTR1	NM_001525.2(HCRTR1):c.836G>A:p.Arg279Gln	coding	Benign
1	31679814	G	T	G31679814T	COL16A1	NM_001856.4(COL16A1):c.2708C>A:p.Pro903Gln	coding	Benign
1	31691647	G	C	G31691647C	COL16A1	NM_001856.4(COL16A1):c.1258-5C>G	noncoding	Benign
1	31694180	C	T	C31694180T	COL16A1	NM_001856.4(COL16A1):c.982-10G>A	noncoding	Benign
1	31727462	C	T	C31727462T	ADGRB2	NM_001294335.2(ADGRB2):c.4713G>A:p.Glu1571=	coding	Benign
1	31728043	G	C	G31728043C	ADGRB2	NM_001294335.2(ADGRB2):c.4551C>G:p.Ala1517=	coding	Benign
1	31728172	G	A	G31728172A	ADGRB2	NM_001294335.2(ADGRB2):c.4512+10C>T	noncoding	Benign
1	31728189	G	A	G31728189A	ADGRB2	NM_001294335.2(ADGRB2):c.4505C>T:p.Thr1502Met	coding	Benign
1	31730983	C	T	C31730983T	ADGRB2	NM_001294335.2(ADGRB2):c.4197G>A:p.Leu1399=	coding	Benign
1	31732535	G	A	G31732535A	ADGRB2	NM_001294335.2(ADGRB2):c.3702C>T:p.Asn1234=	coding	Benign
1	31732574	C	T	C31732574T	ADGRB2	NM_001294335.2(ADGRB2):c.3663G>A:p.Arg1221=	coding	Benign
1	31738613	A	G	A31738613G	ADGRB2	NM_001294335.2(ADGRB2):c.2619T>C:p.His873=	coding	Benign
1	31738875	G	A	G31738875A	ADGRB2	NM_001294335.2(ADGRB2):c.2558C>T:p.Pro853Leu	coding	Benign
1	31739579	T	A	T31739579A	ADGRB2	NM_001294335.2(ADGRB2):c.2224A>T:p.Met742Leu	coding	Benign
1	31756495	G	T	G31756495T	ADGRB2	NM_001294335.2(ADGRB2):c.342C>A:p.Pro114=	coding	Benign
1	31800486	G	A	G31800486A	SPOCD1	NM_144569.6(SPOCD1):c.1557C>T:p.Leu519=	coding	Benign
1	31814602	G	C	G31814602C	SPOCD1	NM_144569.6(SPOCD1):c.732C>G:p.Pro244=	coding	Benign
1	32180465	A	G	A32180465G	TXLNA	NM_175852.4(TXLNA):c.120A>G:p.Ala40=	coding	Benign
1	32195096	C	G	C32195096G	TXLNA	NM_175852.4(TXLNA):c.1542C>G:p.Ser514Arg	coding	Benign
1	32204316	G	A	G32204316A	CCDC28B	NM_024296.4(CCDC28B):c.462G>A:p.Glu154=	coding	Benign
1	32204317	G	A	G32204317A	CCDC28B	NM_024296.4(CCDC28B):c.463G>A:p.Gly155Arg	coding	Benign
1	32274765	G	A	G32274765A	LCK	NM_005356.5(LCK):c.134G>A:p.Arg45Gln	coding	Benign
1	32274792	C	G	C32274792G	LCK	NM_005356.5(LCK):c.161C>G:p.Ser54Cys	coding	Benign
1	32274802	G	A	G32274802A	LCK	NM_005356.5(LCK):c.171G>A:p.Pro57=	coding	Benign
1	32275960	G	A	G32275960A	LCK	NM_005356.5(LCK):c.528G>A:p.Glu176=	coding	Benign
1	32276710	A	G	A32276710G	LCK	NM_005356.5(LCK):c.888A>G:p.Gln296=	coding	Benign
1	32279728	T	C	T32279728C	LCK	NM_005356.5(LCK):c.1022T>C:p.Leu341Pro	coding	Pathogenic
1	32285507	C	T	C32285507T	LCK	NM_005356.5(LCK):c.1328-7C>T	noncoding	Benign
1	32327605	C	T	C32327605T	HDAC1	NM_004964.3(HDAC1):c.564C>T:p.Tyr188=	coding	Benign
1	32329133	C	T	C32329133T	HDAC1	NM_004964.3(HDAC1):c.702C>T:p.Asp234=	coding	Benign
1	32334639	C	T	C32334639T	MARCKSL1	NM_023009.7(MARCKSL1):c.546G>A:p.Pro182=	coding	Benign
1	32335105	G	A	G32335105A	MARCKSL1	NM_023009.7(MARCKSL1):c.88-8C>T	noncoding	Benign
1	32769668	C	A	C32769668A	KIAA1522	NM_020888.3(KIAA1522):c.587-5C>A	noncoding	Benign
1	32775300	A	C	A32775300C	YARS1	NM_003680.3(YARS1):c.*681T>G	noncoding	Benign
1	32775301	T	C	T32775301C	YARS1	NM_003680.3(YARS1):c.*680A>G	noncoding	Benign
1	32775542	A	G	A32775542G	YARS1	NM_003680.3(YARS1):c.*439T>C	noncoding	Benign
1	32775595	C	A	C32775595A	YARS1	NM_003680.3(YARS1):c.*386G>T	noncoding	Benign
1	32775688	T	C	T32775688C	YARS1	NM_003680.3(YARS1):c.*293A>G	noncoding	Benign
1	32775697	T	C	T32775697C	YARS1	NM_003680.3(YARS1):c.*284A>G	noncoding	Benign
1	32775843	C	T	C32775843T	YARS1	NM_003680.3(YARS1):c.*138G>A	noncoding	Benign
1	32775960	G	T	G32775960T	YARS1	NM_003680.3(YARS1):c.*21C>A	noncoding	Benign
1	32779484	C	T	C32779484T	YARS1	NM_003680.3(YARS1):c.1374G>A:p.Pro458=	coding	Benign/Likely_benign
1	32780144	G	A	G32780144A	YARS1	NM_003680.3(YARS1):c.1275C>T:p.Asn425=	coding	Benign
1	32780191	C	T	C32780191T	YARS1	NM_003680.3(YARS1):c.1228G>A:p.Val410Met	coding	Benign/Likely_benign
1	32780201	C	G	C32780201G	YARS1	NM_003680.3(YARS1):c.1218G>C:p.Leu406=	coding	Benign
1	32780287	G	C	G32780287C	YARS1	NM_003680.3(YARS1):c.1141-9C>G	noncoding	Benign/Likely_benign
1	32780576	T	A	T32780576A	YARS1	NM_003680.3(YARS1):c.1141-298A>T	noncoding	Benign
1	32781106	T	A	T32781106A	YARS1	NM_003680.3(YARS1):c.1082A>T:p.Glu361Val	coding	Benign
1	32781108	T	C	T32781108C	YARS1	NM_003680.3(YARS1):c.1080A>G:p.Pro360=	coding	Benign/Likely_benign
1	32782196	G	T	G32782196T	YARS1	NM_003680.3(YARS1):c.1042+208C>A	noncoding	Benign
1	32782431	C	T	C32782431T	YARS1	NM_003680.3(YARS1):c.1015G>A:p.Ala339Thr	coding	Benign
1	32782438	C	T	C32782438T	YARS1	NM_003680.3(YARS1):c.1008G>A:p.Leu336=	coding	Benign/Likely_benign
1	32786118	G	A	G32786118A	YARS1	NM_003680.3(YARS1):c.906+244C>T	noncoding	Benign
1	32786138	T	C	T32786138C	YARS1	NM_003680.3(YARS1):c.906+224A>G	noncoding	Benign
1	32791044	G	C	G32791044C	YARS1	NM_003680.3(YARS1):c.684+118C>G	noncoding	Benign
1	32791283	C	A	C32791283A	YARS1	NM_003680.3(YARS1):c.592-29G>T	noncoding	Benign
1	32797768	C	G	C32797768G	YARS1	NM_003680.3(YARS1):c.586G>C:p.Glu196Gln	coding	Pathogenic/Likely_pathogenic
1	32797768	C	T	C32797768T	YARS1	NM_003680.3(YARS1):c.586G>A:p.Glu196Lys	coding	Pathogenic
1	32806487	G	A	G32806487A	YARS1	NM_003680.3(YARS1):c.505C>T:p.Leu169=	coding	Benign
1	32806577	C	T	C32806577T	YARS1	NM_003680.3(YARS1):c.415G>A:p.Val139Met	coding	Benign
1	32810730	C	G	C32810730G	YARS1	NM_003680.3(YARS1):c.241G>C:p.Asp81His	coding	Benign
1	32810734	G	C	G32810734C	YARS1	NM_003680.3(YARS1):c.237C>G:p.Tyr79Ter	coding	Pathogenic
1	32810823	G	A	G32810823A	YARS1	NM_003680.3(YARS1):c.205-57C>T	noncoding	Benign
1	32810980	C	T	C32810980T	YARS1	NM_003680.3(YARS1):c.135G>A:p.Thr45=	coding	Benign
1	32811055	C	T	C32811055T	YARS1	NM_003680.3(YARS1):c.60G>A:p.Glu20=	coding	Benign/Likely_benign
1	32817174	C	A	C32817174A	YARS1	NM_003680.3(YARS1):c.57+14G>T	noncoding	Benign
1	32817193	G	A	G32817193A	YARS1	NM_003680.3(YARS1):c.52C>T:p.Leu18=	coding	Benign
1	32817373	G	T	G32817373T	YARS1	NM_003680.3(YARS1):c.-129C>A	noncoding	Benign
1	32817432	C	A	C32817432A	YARS1	NM_003680.3(YARS1):c.-188G>T	noncoding	Benign
1	32817489	A	G	A32817489G	YARS1	NM_003680.3(YARS1):c.-245T>C	noncoding	Benign
1	32817527	C	T	C32817527T	YARS1	NM_003680.3(YARS1):c.-283G>A	noncoding	Benign
1	32817681	C	T	C32817681T	YARS1	NM_022753.4(S100PBP):c.-128C>T	noncoding	Benign
1	32817686	G	A	G32817686A	YARS1	NM_022753.4(S100PBP):c.-123G>A	noncoding	Benign
1	32817708	G	A	G32817708A	YARS1	NM_022753.4(S100PBP):c.-120+19G>A	noncoding	Benign
1	32817783	C	A	C32817783A	YARS1	NM_022753.4(S100PBP):c.-120+94C>A	noncoding	Benign
1	32817867	C	T	C32817867T	YARS1	NM_022753.4(S100PBP):c.-120+178C>T	noncoding	Benign
1	32817906	C	T	C32817906T	YARS1	NM_022753.4(S100PBP):c.-120+217C>T	noncoding	Benign
1	32817927	G	A	G32817927A	YARS1	NM_022753.4(S100PBP):c.-120+238G>A	noncoding	Benign
1	32817982	G	C	G32817982C	YARS1	NM_022753.4(S100PBP):c.-120+293G>C	noncoding	Benign
1	32817985	G	A	G32817985A	YARS1	NM_022753.4(S100PBP):c.-120+296G>A	noncoding	Benign
1	32889110	C	A	C32889110A	HPCA	NM_002143.3(HPCA):c.212C>A:p.Thr71Asn	coding	Pathogenic
1	32889123	C	A	C32889123A	HPCA	NM_002143.3(HPCA):c.225C>A:p.Asn75Lys	coding	Pathogenic
1	32893848	G	A	G32893848A	HPCA	NM_002143.3(HPCA):c.568G>A:p.Ala190Thr	coding	Pathogenic
1	33013204	T	A	T33013204A	AK2	NM_001625.4(AK2):c.697A>T:p.Lys233Ter	coding	Pathogenic
1	33013259	C	T	C33013259T	AK2	NM_001625.4(AK2):c.642G>A:p.Gln214=	coding	Benign
1	33013276	C	T	C33013276T	AK2	NM_001625.4(AK2):c.625G>A:p.Ala209Thr	coding	Benign/Likely_benign
1	33013304	C	T	C33013304T	AK2	NM_001625.4(AK2):c.597G>A:p.Glu199=	coding	Benign
1	33013330	G	C	G33013330C	AK2	NM_001625.4(AK2):c.571C>G:p.His191Asp	coding	Benign
1	33013345	G	A	G33013345A	AK2	NM_001625.4(AK2):c.556C>T:p.Arg186Cys	coding	Pathogenic
1	33014521	C	T	C33014521T	AK2	NM_001625.4(AK2):c.498+1G>A	noncoding	Pathogenic
1	33014526	T	C	T33014526C	AK2	NM_001625.4(AK2):c.494A>G:p.Asp165Gly	coding	Pathogenic
1	33021462	C	T	C33021462T	AK2	NM_001625.4(AK2):c.331-1G>A	coding	Pathogenic
1	33021585	C	G	C33021585G	AK2	NM_001625.4(AK2):c.330+8G>C	noncoding	Benign
1	33021668	C	T	C33021668T	AK2	NM_001625.4(AK2):c.255G>A:p.Lys85=	coding	Benign
1	33024442	C	G	C33024442G	AK2	NM_001625.4(AK2):c.219G>C:p.Leu73=	coding	Benign
1	33036804	C	A	C33036804A	AK2	NM_001625.4(AK2):c.25G>T:p.Glu9Ter	coding	Pathogenic
1	33036828	T	C	T33036828C	AK2	NM_001625.4(AK2):c.1A>G:p.Met1Val	coding	Pathogenic
1	33092212	C	T	C33092212T	AZIN2	NM_052998.4(AZIN2):c.442C>T:p.Pro148Ser	coding	Benign
1	33093391	C	A	C33093391A	AZIN2	NM_052998.4(AZIN2):c.562C>A:p.His188Asn	coding	Benign
1	33096715	C	T	C33096715T	AZIN2	NM_052998.4(AZIN2):c.762C>T:p.Ser254=	coding	Benign
1	33147188	C	T	C33147188T	TRIM62	NM_018207.3(TRIM62):c.1417G>A:p.Val473Ile	coding	Benign
1	33159747	C	T	C33159747T	TRIM62	NM_018207.3(TRIM62):c.702G>A:p.Glu234=	coding	Benign
1	33332300	C	T	C33332300T	PHC2	NM_198040.2(PHC2):c.1863G>A:p.Ser621=	coding	Benign
1	33334206	C	T	C33334206T	PHC2	NM_198040.2(PHC2):c.1642G>A:p.Ala548Thr	coding	Benign
1	33354919	G	A	G33354919A	PHC2	NM_198040.2(PHC2):c.1311C>T:p.Pro437=	coding	Benign
1	33355130	C	T	C33355130T	PHC2	NM_198040.2(PHC2):c.1100G>A:p.Arg367Gln	coding	Benign
1	33546092	T	G	T33546092G	CSMD2	NM_052896.4(CSMD2):c.8613A>C:p.Ser2871=	coding	Benign
1	34761289	G	A	G34761289A	GJB4	NM_153212.3(GJB4):c.35G>A:p.Gly12Asp	coding	Pathogenic
1	34761319	G	A	G34761319A	GJB4	NM_153212.3(GJB4):c.65G>A:p.Arg22His	coding	Pathogenic
1	34761362	C	T	C34761362T	GJB4	NM_153212.3(GJB4):c.108C>T:p.Tyr36=	coding	Benign
1	34761392	T	C	T34761392C	GJB4	NM_153212.3(GJB4):c.138T>C:p.Asp46=	coding	Benign
1	34761437	C	A	C34761437A	GJB4	NM_153212.3(GJB4):c.183C>A:p.Pro61=	coding	Benign
1	34761461	C	G	C34761461G	GJB4	NM_153212.3(GJB4):c.207C>G:p.Phe69Leu	coding	Benign
1	34761473	C	T	C34761473T	GJB4	NM_153212.3(GJB4):c.219C>T:p.His73=	coding	Benign/Likely_benign
1	34761477	C	T	C34761477T	GJB4	NM_153212.3(GJB4):c.223C>T:p.Arg75Cys	coding	Benign
1	34761478	G	A	G34761478A	GJB4	NM_153212.3(GJB4):c.224G>A:p.Arg75His	coding	Benign
1	34761482	C	G	C34761482G	GJB4	NM_153212.3(GJB4):c.228C>G:p.Leu76=	coding	Benign
1	34761492	C	T	C34761492T	GJB4	NM_153212.3(GJB4):c.238C>T:p.Gln80Ter	coding	Benign
1	34761507	A	C	A34761507C	GJB4	NM_153212.3(GJB4):c.253A>C:p.Thr85Pro	coding	Pathogenic
1	34761557	C	G	C34761557G	GJB4	NM_153212.3(GJB4):c.303C>G:p.Arg101=	coding	Benign
1	34761663	T	C	T34761663C	GJB4	NM_153212.3(GJB4):c.409T>C:p.Phe137Leu	coding	Pathogenic
1	34761665	C	A	C34761665A	GJB4	NM_153212.3(GJB4):c.411C>A:p.Phe137Leu	coding	Pathogenic
1	34761761	C	G	C34761761G	GJB4	NM_153212.3(GJB4):c.507C>G:p.Cys169Trp	coding	Benign
1	34761770	T	C	T34761770C	GJB4	NM_153212.3(GJB4):c.516T>C:p.Thr172=	coding	Benign
1	34761820	T	A	T34761820A	GJB4	NM_153212.3(GJB4):c.566T>A:p.Phe189Tyr	coding	Pathogenic
1	34761865	A	C	A34761865C	GJB4	NM_153212.3(GJB4):c.611A>C:p.Glu204Ala	coding	Benign
1	34761881	G	A	G34761881A	GJB4	NM_153212.3(GJB4):c.627G>A:p.Val209=	coding	Benign
1	34761947	C	T	C34761947T	GJB4	NM_153212.3(GJB4):c.693C>T:p.Pro231=	coding	Benign
1	34761953	G	A	G34761953A	GJB4	NM_153212.3(GJB4):c.699G>A:p.Thr233=	coding	Benign
1	34762072	A	G	A34762072G	GJB4	NM_153212.3(GJB4):c.*17A>G	noncoding	Benign
1	34781397	C	T	C34781397T	GJB3	NM_024009.3(GJB3):c.-407C>T	noncoding	Benign
1	34781663	C	G	C34781663G	GJB3	NM_024009.3(GJB3):c.-141C>G	noncoding	Benign
1	34781764	G	A	G34781764A	GJB3	NM_024009.3(GJB3):c.-40G>A	noncoding	Benign
1	34784692	A	G	A34784692G	GJB3	NM_024009.3(GJB3):c.-25-46A>G	noncoding	Benign
1	34784760	G	A	G34784760A	GJB3	NM_024009.3(GJB3):c.-3G>A	noncoding	Benign
1	34784770	G	A	G34784770A	GJB3	NM_024009.3(GJB3):c.8G>A:p.Trp3Ter	coding	Pathogenic
1	34784796	G	C	G34784796C	GJB3	NM_024009.3(GJB3):c.34G>C:p.Gly12Arg	coding	Pathogenic
1	34784797	G	A	G34784797A	GJB3	NM_024009.3(GJB3):c.35G>A:p.Gly12Asp	coding	Pathogenic
1	34784823	G	A	G34784823A	GJB3	NM_024009.3(GJB3):c.61G>A:p.Gly21Arg	coding	Benign
1	34784856	C	T	C34784856T	GJB3	NM_024009.3(GJB3):c.94C>T:p.Arg32Trp	coding	Benign
1	34784863	T	C	T34784863C	GJB3	NM_024009.3(GJB3):c.101T>C:p.Leu34Pro	coding	Pathogenic
1	34784871	G	A	G34784871A	GJB3	NM_024009.3(GJB3):c.109G>A:p.Val37Met	coding	Benign/Likely_benign
1	34784887	G	C	G34784887C	GJB3	NM_024009.3(GJB3):c.125G>C:p.Arg42Pro	coding	Pathogenic
1	34784948	C	T	C34784948T	GJB3	NM_024009.3(GJB3):c.186C>T:p.Asn62=	coding	Benign
1	34784949	G	A	G34784949A	GJB3	NM_024009.3(GJB3):c.187G>A:p.Val63Ile	coding	Benign
1	34785012	G	A	G34785012A	GJB3	NM_024009.3(GJB3):c.250G>A:p.Val84Ile	coding	Benign
1	34785018	T	A	T34785018A	GJB3	NM_024009.3(GJB3):c.256T>A:p.Cys86Ser	coding	Pathogenic
1	34785026	G	A	G34785026A	GJB3	NM_024009.3(GJB3):c.264G>A:p.Ser88=	coding	Benign/Likely_benign
1	34785075	C	A	C34785075A	GJB3	NM_024009.3(GJB3):c.313C>A:p.His105Asn	coding	Benign/Likely_benign
1	34785078	C	T	C34785078T	GJB3	NM_024009.3(GJB3):c.316C>T:p.Arg106Cys	coding	Benign
1	34785102	G	A	G34785102A	GJB3	NM_024009.3(GJB3):c.340G>A:p.Ala114Thr	coding	Benign/Likely_benign
1	34785119	C	T	C34785119T	GJB3	NM_024009.3(GJB3):c.357C>T:p.Asn119=	coding	Benign
1	34785134	C	T	C34785134T	GJB3	NM_024009.3(GJB3):c.372C>T:p.His124=	coding	Benign/Likely_benign
1	34785183	A	G	A34785183G	GJB3	NM_024009.3(GJB3):c.421A>G:p.Ile141Val	coding	Pathogenic
1	34785239	G	A	G34785239A	GJB3	NM_024009.3(GJB3):c.477G>A:p.Pro159=	coding	Benign
1	34785259	A	G	A34785259G	GJB3	NM_024009.3(GJB3):c.497A>G:p.Asn166Ser	coding	Pathogenic
1	34785291	T	G	T34785291G	GJB3	NM_024009.3(GJB3):c.529T>G:p.Tyr177Asp	coding	Benign/Likely_benign
1	34785329	C	T	C34785329T	GJB3	NM_024009.3(GJB3):c.567C>T:p.Tyr189=	coding	Benign
1	34785341	C	T	C34785341T	GJB3	NM_024009.3(GJB3):c.579C>T:p.Gly193=	coding	Benign/Likely_benign
1	34785360	G	A	G34785360A	GJB3	NM_024009.3(GJB3):c.598G>A:p.Val200Ile	coding	Benign
1	34785409	G	A	G34785409A	GJB3	NM_024009.3(GJB3):c.647G>A:p.Arg216Gln	coding	Benign
1	34785560	C	T	C34785560T	GJB3	NM_024009.3(GJB3):c.798C>T:p.Asn266=	coding	Benign
1	34785588	G	A	G34785588A	GJB3	NM_024009.3(GJB3):c.*13G>A	noncoding	Benign
1	34785618	C	A	C34785618A	GJB3	NM_024009.3(GJB3):c.*43C>A	noncoding	Benign
1	34785628	G	A	G34785628A	GJB3	NM_024009.3(GJB3):c.*53G>A	noncoding	Benign
1	34785793	C	A	C34785793A	GJB3	NM_024009.3(GJB3):c.*218C>A	noncoding	Benign
1	34785944	G	C	G34785944C	GJB3	NM_024009.3(GJB3):c.*369G>C	noncoding	Benign
1	34786009	G	A	G34786009A	GJB3	NM_024009.3(GJB3):c.*434G>A	noncoding	Benign
1	34786068	C	T	C34786068T	GJB3	NM_024009.3(GJB3):c.*493C>T	noncoding	Benign
1	34786134	G	C	G34786134C	GJB3	NM_024009.3(GJB3):c.*559G>C	noncoding	Benign
1	34786201	C	G	C34786201G	GJB3	NM_024009.3(GJB3):c.*626C>G	noncoding	Benign
1	34794607	C	T	C34794607T	GJA4	NM_002060.3(GJA4):c.394C>T:p.Arg132Cys	coding	Benign
1	34794985	C	T	C34794985T	GJA4	NM_002060.3(GJA4):c.772C>T:p.Pro258Ser	coding	Benign
1	34868711	G	A	G34868711A	DLGAP3	NM_001080418.3(DLGAP3):c.2379C>T:p.Arg793=	coding	Benign
1	34868798	G	A	G34868798A	DLGAP3	NM_001080418.3(DLGAP3):c.2292C>T:p.Pro764=	coding	Benign
1	34885511	C	T	C34885511T	DLGAP3	NM_001080418.3(DLGAP3):c.1881G>A:p.Arg627=	coding	Benign
1	34900163	G	A	G34900163A	DLGAP3	NM_001080418.3(DLGAP3):c.1218C>T:p.Ser406=	coding	Benign
1	34904382	G	A	G34904382A	DLGAP3	NM_001080418.3(DLGAP3):c.1002C>T:p.Thr334=	coding	Benign
1	34904466	G	A	G34904466A	DLGAP3	NM_001080418.3(DLGAP3):c.918C>T:p.Gly306=	coding	Benign
1	34988277	A	G	A34988277G	ZMYM6	NM_007167.4(ZMYM6):c.2805T>C:p.Cys935=	coding	Benign
1	35019607	C	G	C35019607G	ZMYM6	NM_007167.4(ZMYM6):c.179-5G>C	noncoding	Benign
1	35189008	T	C	T35189008C	SFPQ	NM_005066.3(SFPQ):c.1692A>G:p.Gln564=	coding	Benign
1	35190780	T	C	T35190780C	SFPQ	NM_005066.3(SFPQ):c.1233A>G:p.Thr411=	coding	Benign
1	35441087	C	T	C35441087T	KIAA0319L	NM_024874.5(KIAA0319L):c.2922G>A:p.Thr974=	coding	Benign
1	35460440	T	A	T35460440A	KIAA0319L	NM_024874.5(KIAA0319L):c.1295-3A>T	noncoding	Benign
1	35460441	G	A	G35460441A	KIAA0319L	NM_024874.5(KIAA0319L):c.1295-4C>T	noncoding	Benign
1	35460447	A	G	A35460447G	KIAA0319L	NM_024874.5(KIAA0319L):c.1295-10T>C	noncoding	Benign
1	35479008	T	C	T35479008C	KIAA0319L	NM_024874.5(KIAA0319L):c.871A>G:p.Thr291Ala	coding	Benign
1	35479151	C	T	C35479151T	KIAA0319L	NM_024874.5(KIAA0319L):c.728G>A:p.Gly243Asp	coding	Benign
1	35506648	G	A	G35506648A	KIAA0319L	NM_024874.5(KIAA0319L):c.630C>T:p.Asn210=	coding	Benign
1	35760907	T	C	T35760907C	CLSPN	NM_022111.4(CLSPN):c.1014A>G:p.Lys338=	coding	Benign
1	35888566	C	T	C35888566T	AGO1	NM_012199.5(AGO1):c.165C>T:p.Tyr55=	coding	Benign
1	35888584	G	A	G35888584A	AGO1	NM_012199.5(AGO1):c.183G>A:p.Pro61=	coding	Benign
1	35888584	G	C	G35888584C	AGO1	NM_012199.5(AGO1):c.183G>C:p.Pro61=	coding	Benign
1	35893198	C	G	C35893198G	AGO1	NM_012199.5(AGO1):c.432C>G:p.Ala144=	coding	Benign
1	35894035	A	G	A35894035G	AGO1	NM_012199.5(AGO1):c.650-2A>G	noncoding	Pathogenic
1	35902064	C	T	C35902064T	AGO1	NM_012199.5(AGO1):c.1257C>T:p.Gly419=	coding	Benign
1	35917652	C	T	C35917652T	AGO1	NM_012199.5(AGO1):c.2088C>T:p.Tyr696=	coding	Benign
1	35972221	G	A	G35972221A	AGO3	NM_024852.4(AGO3):c.510G>A:p.Leu170=	coding	Benign
1	36009017	A	G	A36009017G	AGO3	NM_024852.4(AGO3):c.1002A>G:p.Glu334=	coding	Benign
1	36013689	G	A	G36013689A	AGO3	NM_024852.4(AGO3):c.1209G>A:p.Arg403=	coding	Benign
1	36027279	G	A	G36027279A	AGO3	NM_024852.4(AGO3):c.1572G>A:p.Pro524=	coding	Benign
1	36034242	A	G	A36034242G	AGO3	NM_024852.4(AGO3):c.1660A>G:p.Ile554Val	coding	Benign
1	36039906	A	G	A36039906G	AGO3	NM_024852.4(AGO3):c.1959A>G:p.Gln653=	coding	Benign
1	36055014	G	A	G36055014A	AGO3	NM_024852.4(AGO3):c.2343G>A:p.Gln781=	coding	Benign
1	36055739	C	T	C36055739T	AGO3	NM_024852.4(AGO3):c.2577C>T:p.Phe859=	coding	Benign
1	36089004	G	A	G36089004A	ADPRS	NM_017825.3(ADPRS):c.100G>A:p.Asp34Asn	coding	Pathogenic
1	36091267	A	C	A36091267C	ADPRS	NM_017825.3(ADPRS):c.235A>C:p.Thr79Pro	coding	Pathogenic
1	36091923	C	T	C36091923T	ADPRS	NM_017825.3(ADPRS):c.530C>T:p.Ser177Leu	coding	Pathogenic
1	36093294	C	T	C36093294T	ADPRS	NM_017825.3(ADPRS):c.1000C>T:p.Gln334Ter	coding	Pathogenic
1	36097935	G	A	G36097935A	COL8A2	NM_005202.4(COL8A2):c.1746C>T:p.Thr582=	coding	Benign
1	36098318	G	T	G36098318T	COL8A2	NM_005202.4(COL8A2):c.1363C>A:p.Gln455Lys	coding	Pathogenic
1	36098332	A	C	A36098332C	COL8A2	NM_005202.4(COL8A2):c.1349T>G:p.Leu450Trp	coding	Pathogenic
1	36098874	C	T	C36098874T	COL8A2	NM_005202.4(COL8A2):c.807G>A:p.Val269=	coding	Benign
1	36139735	C	T	C36139735T	TRAPPC3	NM_014408.5(TRAPPC3):c.225G>A:p.Ala75=	coding	Benign
1	36171173	G	A	G36171173A	MAP7D1	NM_018067.5(MAP7D1):c.249G>A:p.Gln83=	coding	Benign
1	36171234	C	T	C36171234T	MAP7D1	NM_018067.5(MAP7D1):c.310C>T:p.Arg104Trp	coding	Benign
1	36172545	G	A	G36172545A	MAP7D1	NM_018067.5(MAP7D1):c.542G>A:p.Arg181Gln	coding	Benign
1	36341962	C	T	C36341962T	STK40	NM_001282547.2(STK40):c.1101G>A:p.Thr367=	coding	Benign
1	36344125	A	G	A36344125G	STK40	NM_001282547.2(STK40):c.879T>C:p.Ile293=	coding	Benign
1	36466372	C	T	C36466372T	CSF3R	NM_000760.4(CSF3R):c.2496G>A:p.Ala832=	coding	Benign
1	36466384	A	G	A36466384G	CSF3R	NM_000760.4(CSF3R):c.2484T>C:p.His828=	coding	Benign
1	36466446	C	T	C36466446T	CSF3R	NM_000760.4(CSF3R):c.2422G>A:p.Glu808Lys	coding	Benign/Likely_benign
1	36466534	C	T	C36466534T	CSF3R	NM_000760.4(CSF3R):c.2334G>A:p.Ala778=	coding	Benign
1	36466671	G	T	G36466671T	CSF3R	NM_000760.4(CSF3R):c.2197C>A:p.Pro733Thr	coding	Benign
1	36466902	C	T	C36466902T	CSF3R	NM_000760.4(CSF3R):c.2041-75G>A	coding	Benign
1	36467597	G	T	G36467597T	CSF3R	NM_000760.4(CSF3R):c.1919C>A:p.Thr640Asn	coding	Pathogenic
1	36467892	G	A	G36467892A	CSF3R	NM_000760.4(CSF3R):c.1794C>T:p.Ile598=	coding	Benign
1	36468067	A	G	A36468067G	CSF3R	NM_000760.4(CSF3R):c.1723+8T>C	noncoding	Benign
1	36468109	G	T	G36468109T	CSF3R	NM_000760.4(CSF3R):c.1689C>A:p.Thr563=	coding	Benign
1	36468114	A	G	A36468114G	CSF3R	NM_000760.4(CSF3R):c.1684T>C:p.Tyr562His	coding	Benign
1	36468158	C	T	C36468158T	CSF3R	NM_000760.4(CSF3R):c.1640G>A:p.Trp547Ter	coding	Pathogenic/Likely_pathogenic
1	36469204	C	G	C36469204G	CSF3R	NM_000760.4(CSF3R):c.1528G>C:p.Asp510His	coding	Benign
1	36469668	C	T	C36469668T	CSF3R	NM_000760.4(CSF3R):c.1458G>A:p.Thr486=	coding	Benign/Likely_benign
1	36469716	C	T	C36469716T	CSF3R	NM_000760.4(CSF3R):c.1410G>A:p.Ala470=	coding	Benign/Likely_benign
1	36469807	C	T	C36469807T	CSF3R	NM_000760.4(CSF3R):c.1319G>A:p.Arg440Gln	coding	Benign/Likely_benign
1	36471458	A	G	A36471458G	CSF3R	NM_000760.4(CSF3R):c.1260T>C:p.Thr420=	coding	Benign
1	36471464	A	G	A36471464G	CSF3R	NM_000760.4(CSF3R):c.1254T>C:p.Arg418=	coding	Benign
1	36471505	C	T	C36471505T	CSF3R	NM_000760.4(CSF3R):c.1213G>A:p.Glu405Lys	coding	Benign
1	36472100	T	C	T36472100C	CSF3R	NM_000760.4(CSF3R):c.1037A>G:p.Gln346Arg	coding	Benign
1	36472141	T	A	T36472141A	CSF3R	NM_000760.4(CSF3R):c.998-2A>T	noncoding	Pathogenic
1	36472277	C	T	C36472277T	CSF3R	NM_000760.4(CSF3R):c.958G>A:p.Asp320Asn	coding	Benign
1	36472313	G	A	G36472313A	CSF3R	NM_000760.4(CSF3R):c.922C>T:p.Arg308Cys	coding	Pathogenic
1	36472634	G	A	G36472634A	CSF3R	NM_000760.4(CSF3R):c.726C>T:p.Ala242=	coding	Benign
1	36472668	A	G	A36472668G	CSF3R	NM_000760.4(CSF3R):c.692T>C:p.Met231Thr	coding	Benign
1	36473802	C	G	C36473802G	CSF3R	NM_000760.4(CSF3R):c.447G>C:p.Glu149Asp	coding	Benign/Likely_benign
1	36475398	G	A	G36475398A	CSF3R	NM_000760.4(CSF3R):c.340C>T:p.Gln114Ter	coding	Pathogenic
1	36475630	G	A	G36475630A	CSF3R	NM_000760.4(CSF3R):c.108C>T:p.Val36=	coding	Benign/Likely_benign
1	36475633	G	T	G36475633T	CSF3R	NM_000760.4(CSF3R):c.105C>A:p.Ile35=	coding	Benign
1	36841856	T	C	T36841856C	GRIK3	NM_000831.4(GRIK3):c.1410A>G:p.Leu470=	coding	Benign
1	36853726	C	T	C36853726T	GRIK3	NM_000831.4(GRIK3):c.1105-4G>A	noncoding	Benign
1	36859925	C	T	C36859925T	GRIK3	NM_000831.4(GRIK3):c.879G>A:p.Ser293=	coding	Benign
1	36859976	G	A	G36859976A	GRIK3	NM_000831.4(GRIK3):c.828C>T:p.Gly276=	coding	Benign
1	36859997	C	T	C36859997T	GRIK3	NM_000831.4(GRIK3):c.807G>A:p.Leu269=	coding	Benign
1	36872358	G	A	G36872358A	GRIK3	NM_000831.4(GRIK3):c.562C>T:p.Leu188=	coding	Benign
1	36880716	G	A	G36880716A	GRIK3	NM_000831.4(GRIK3):c.468C>T:p.Tyr156=	coding	Benign
1	36880731	G	A	G36880731A	GRIK3	NM_000831.4(GRIK3):c.453C>T:p.Asn151=	coding	Benign
1	37034025	G	T	G37034025T	GRIK3	NM_000831.4(GRIK3):c.84C>A:p.Asp28Glu	coding	Benign
1	37475795	C	T	C37475795T	ZC3H12A	NM_025079.3(ZC3H12A):c.299C>T:p.Pro100Leu	coding	Benign
1	37481735	G	A	G37481735A	ZC3H12A	NM_025079.3(ZC3H12A):c.718G>A:p.Val240Met	coding	Benign
1	37483335	C	T	C37483335T	ZC3H12A	NM_025079.3(ZC3H12A):c.1524C>T:p.Ala508=	coding	Benign
1	37540515	G	A	G37540515A	SNIP1	NM_024700.4(SNIP1):c.568C>T:p.Arg190Cys	coding	Benign
1	37540705	T	C	T37540705C	SNIP1	NM_024700.4(SNIP1):c.378A>G:p.Glu126=	coding	Benign
1	37540752	G	A	G37540752A	SNIP1	NM_024700.4(SNIP1):c.331C>T:p.Arg111Cys	coding	Pathogenic
1	37557021	C	G	C37557021G	DNALI1	NM_003462.5(DNALI1):c.27C>G:p.Leu9=	coding	Benign
1	37562090	T	C	T37562090C	DNALI1	NM_003462.5(DNALI1):c.586T>C:p.Leu196=	coding	Benign
1	37562170	C	T	C37562170T	DNALI1	NM_003462.5(DNALI1):c.666C>T:p.Ser222=	coding	Benign
1	37562195	A	C	A37562195C	DNALI1	NM_003462.5(DNALI1):c.691A>C:p.Lys231Gln	coding	Benign
1	37562255	G	A	G37562255A	DNALI1	NM_003462.5(DNALI1):c.741+10G>A	noncoding	Benign
1	37612828	C	T	C37612828T	RSPO1	NM_001242908.2(RSPO1):c.719G>A:p.Arg240Gln	coding	Benign
1	37616483	C	T	C37616483T	RSPO1	NM_001242908.2(RSPO1):c.286+1G>A	noncoding	Pathogenic
1	37727153	G	A	G37727153A	EPHA10	NM_001099439.2(EPHA10):c.1721C>T:p.Ser574Leu	coding	Benign
1	37731480	C	T	C37731480T	EPHA10	NM_001099439.2(EPHA10):c.1594G>A:p.Ala532Thr	coding	Benign
1	37822570	G	A	G37822570A	MTF1	NM_005955.3(MTF1):c.1318C>T:p.Pro440Ser	coding	Benign
1	37857455	T	G	T37857455G	MTF1	NM_005955.3(MTF1):c.204A>C:p.Gly68=	coding	Benign
1	37857470	G	T	G37857470T	MTF1	NM_005955.3(MTF1):c.189C>A:p.Asp63Glu	coding	Benign
1	37945772	C	T	C37945772T	INPP5B	NM_005540.3(INPP5B):c.136G>A:p.Gly46Ser	coding	Benign
1	37945855	G	A	G37945855A	INPP5B	NM_005540.3(INPP5B):c.58-5C>T	noncoding	Benign
1	37998998	C	T	C37998998T	FHL3	NM_004468.5(FHL3):c.307G>A:p.Ala103Thr	coding	Benign
1	38874709	A	G	A38874709G	GJA9	NM_030772.5(GJA9):c.1390T>C:p.Ser464Pro	coding	Benign
1	38874747	G	A	G38874747A	GJA9	NM_030772.5(GJA9):c.1352C>T:p.Thr451Ile	coding	Benign
1	39028754	C	T	C39028754T	NDUFS5	NM_004552.3(NDUFS5):c.30C>T:p.Phe10=	coding	Benign
1	39034514	G	A	G39034514A	NDUFS5	NM_004552.3(NDUFS5):c.*18G>A	noncoding	Benign
1	39292767	G	T	G39292767T	MACF1	NM_012090.5(MACF1):c.1931G>T:p.Gly644Val	coding	Benign
1	39317353	A	T	A39317353T	MACF1	NM_012090.5(MACF1):c.3743A>T:p.Lys1248Ile	coding	Benign
1	39387491	T	C	T39387491C	MACF1	NM_012090.5(MACF1):c.8463T>C:p.His2821=	coding	Benign
1	39434404	G	T	G39434404T	MACF1	NM_012090.5(MACF1):c.11380-10G>T	noncoding	Benign
1	39434558	C	T	C39434558T	MACF1	NM_012090.5(MACF1):c.11524C>T:p.Arg3842Trp	coding	Benign
1	39451086	G	C	G39451086C	MACF1	NM_012090.5(MACF1):c.14116G>C:p.Gly4706Arg	coding	Pathogenic
1	39459080	T	C	T39459080C	MACF1	NM_012090.5(MACF1):c.15020-6T>C	noncoding	Benign
1	39459254	T	C	T39459254C	MACF1	NM_012090.5(MACF1):c.15183+5T>C	noncoding	Benign
1	39462013	C	T	C39462013T	MACF1	NM_012090.5(MACF1):c.15477C>T:p.Thr5159=	coding	Benign
1	39463640	G	T	G39463640T	MACF1	NM_012090.5(MACF1):c.15530G>T:p.Cys5177Phe	coding	Pathogenic
1	39468720	G	T	G39468720T	MACF1	NM_012090.5(MACF1):c.15682G>T:p.Asp5228Tyr	coding	Pathogenic
1	39468726	T	G	T39468726G	MACF1	NM_012090.5(MACF1):c.15688T>G:p.Cys5230Gly	coding	Pathogenic
1	39468727	G	T	G39468727T	MACF1	NM_012090.5(MACF1):c.15689G>T:p.Cys5230Phe	coding	Pathogenic
1	39522412	G	A	G39522412A	BMP8A	NM_181809.4(BMP8A):c.878G>A:p.Arg293His	coding	Benign
1	39659132	A	C	A39659132C	NT5C1A	NM_032526.2(NT5C1A):c.1096T>G:p.Ser366Ala	coding	Benign
1	39659439	C	T	C39659439T	NT5C1A	NM_032526.2(NT5C1A):c.789G>A:p.Lys263=	coding	Benign
1	39661178	G	A	G39661178A	NT5C1A	NM_032526.2(NT5C1A):c.642C>T:p.Ala214=	coding	Benign
1	39762513	T	C	T39762513C	PPIE	NM_001720.5(BMP8B):c.1059+579A>G	noncoding	Benign
1	39763082	T	C	T39763082C	BMP8B	NM_001720.5(BMP8B):c.1059+10A>G	noncoding	Benign
1	39763173	C	T	C39763173T	BMP8B	NM_001720.5(BMP8B):c.978G>A:p.Ser326=	coding	Benign
1	39764664	C	G	C39764664G	BMP8B	NM_001720.5(BMP8B):c.827G>C:p.Ser276Thr	coding	Benign
1	39847258	C	T	C39847258T	TRIT1	NM_017646.6(TRIT1):c.968G>A:p.Arg323Gln	coding	Pathogenic
1	39850199	G	A	G39850199A	TRIT1	NM_017646.6(TRIT1):c.623C>T:p.Thr208Met	coding	Benign
1	39965333	C	T	C39965333T	MFSD2A	NM_032793.5(MFSD2A):c.476C>T:p.Thr159Met	coding	Pathogenic
1	39965490	C	T	C39965490T	MFSD2A	NM_032793.5(MFSD2A):c.497C>T:p.Ser166Leu	coding	Pathogenic
1	39965542	C	A	C39965542A	MFSD2A	NM_032793.5(MFSD2A):c.549C>A:p.Thr183=	coding	Benign
1	39965929	C	T	C39965929T	MFSD2A	NM_032793.5(MFSD2A):c.629C>T:p.Thr210Met	coding	Benign
1	39965930	G	A	G39965930A	MFSD2A	NM_032793.5(MFSD2A):c.630G>A:p.Thr210=	coding	Benign
1	39966857	C	T	C39966857T	MFSD2A	NM_032793.5(MFSD2A):c.852C>T:p.Gly284=	coding	Benign
1	39967632	C	T	C39967632T	MFSD2A	NM_032793.5(MFSD2A):c.1016C>T:p.Ser339Leu	coding	Pathogenic
1	39967913	C	A	C39967913A	MFSD2A	NM_032793.5(MFSD2A):c.1205C>A:p.Pro402His	coding	Pathogenic/Likely_pathogenic
1	40059439	T	C	T40059439C	CAP1	NM_001105530.1(CAP1):c.93T>C:p.Tyr31=	coding	Benign
1	40061737	G	A	G40061737A	CAP1	NM_001105530.1(CAP1):c.219G>A:p.Ala73=	coding	Benign
1	40072786	C	T	C40072786T	PPT1	NM_000310.3(PPT1):c.*1275G>A	noncoding	Benign
1	40073183	A	G	A40073183G	PPT1	NM_000310.3(PPT1):c.*878T>C	noncoding	Benign
1	40073404	C	T	C40073404T	PPT1	NM_000310.3(PPT1):c.*657G>A	noncoding	Benign
1	40073556	G	C	G40073556C	PPT1	NM_000310.3(PPT1):c.*505C>G	noncoding	Benign
1	40073605	T	C	T40073605C	PPT1	NM_000310.3(PPT1):c.*456A>G	noncoding	Benign
1	40073776	A	C	A40073776C	PPT1	NM_000310.3(PPT1):c.*285T>G	noncoding	Benign
1	40073900	A	G	A40073900G	PPT1	NM_000310.3(PPT1):c.*161T>C	noncoding	Benign
1	40074049	A	G	A40074049G	PPT1	NM_000310.3(PPT1):c.*12T>C	noncoding	Benign
1	40074058	G	T	G40074058T	PPT1	NM_000310.3(PPT1):c.*3C>A	noncoding	Benign
1	40074111	G	A	G40074111A	PPT1	NM_000310.3(PPT1):c.871C>T:p.Gln291Ter	coding	Pathogenic
1	40074145	C	G	C40074145G	PPT1	NM_000310.3(PPT1):c.837G>C:p.Gln279His	coding	Benign
1	40074202	T	G	T40074202G	PPT1	NM_000310.3(PPT1):c.799-19A>C	noncoding	Benign
1	40076834	C	T	C40076834T	PPT1	NM_000310.3(PPT1):c.798+8G>A	noncoding	Benign/Likely_benign
1	40076914	C	T	C40076914T	PPT1	NM_000310.4(PPT1):c.727-1G>A	coding	Pathogenic
1	40076915	T	A	T40076915A	PPT1	NM_000310.3(PPT1):c.727-2A>T	noncoding	Pathogenic/Likely_pathogenic
1	40078621	A	G	A40078621G	PPT1	NM_000310.3(PPT1):c.665T>C:p.Leu222Pro	coding	Pathogenic
1	40078630	A	T	A40078630T	PPT1	NM_000310.3(PPT1):c.656T>A:p.Leu219Gln	coding	Pathogenic
1	40078659	C	A	C40078659A	PPT1	NM_000310.3(PPT1):c.628-1G>T	coding	Pathogenic/Likely_pathogenic
1	40080393	T	C	T40080393C	PPT1	NM_000310.3(PPT1):c.627+4A>G	noncoding	Benign/Likely_benign
1	40080474	C	T	C40080474T	PPT1	NM_000310.3(PPT1):c.550G>A:p.Glu184Lys	coding	Pathogenic/Likely_pathogenic
1	40080483	C	A	C40080483A	PPT1	NM_000310.3(PPT1):c.541G>T:p.Val181Leu	coding	Pathogenic/Likely_pathogenic
1	40080483	C	T	C40080483T	PPT1	NM_000310.3(PPT1):c.541G>A:p.Val181Met	coding	Pathogenic/Likely_pathogenic
1	40080491	T	C	T40080491C	PPT1	NM_000310.3(PPT1):c.537-4A>G	noncoding	Benign
1	40089409	C	T	C40089409T	PPT1	NM_000310.3(PPT1):c.536+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	40089417	G	C	G40089417C	PPT1	NM_000310.3(PPT1):c.529C>G:p.Gln177Glu	coding	Pathogenic
1	40089456	G	A	G40089456A	PPT1	NM_001142604.2(PPT1):c.181C>T:p.Arg61Ter	coding	Pathogenic/Likely_pathogenic
1	40089495	G	A	G40089495A	PPT1	NM_000310.3(PPT1):c.451C>T:p.Arg151Ter	coding	Pathogenic/Likely_pathogenic
1	40089602	C	G	C40089602G	PPT1	NM_000310.3(PPT1):c.434-90G>C	noncoding	Benign
1	40089649	C	T	C40089649T	PPT1	NM_000310.3(PPT1):c.434-137G>A	noncoding	Benign
1	40089727	C	T	C40089727T	PPT1	NM_000310.3(PPT1):c.434-215G>A	noncoding	Benign
1	40091270	A	T	A40091270T	PPT1	NM_000310.3(PPT1):c.433+59T>A	noncoding	Benign
1	40091338	G	A	G40091338A	PPT1	NM_000310.3(PPT1):c.424C>T:p.Gln142Ter	coding	Pathogenic/Likely_pathogenic
1	40091361	A	G	A40091361G	PPT1	NM_000310.3(PPT1):c.401T>C:p.Ile134Thr	coding	Benign
1	40091398	T	A	T40091398A	PPT1	NM_000310.3(PPT1):c.364A>T:p.Arg122Trp	coding	Pathogenic
1	40091403	C	T	C40091403T	PPT1	NM_000310.4(PPT1):c.363-4G>A	noncoding	Benign/Likely_benign
1	40091417	G	C	G40091417C	PPT1	NM_000310.3(PPT1):c.363-18C>G	noncoding	Benign
1	40091418	T	C	T40091418C	PPT1	NM_000310.3(PPT1):c.363-19A>G	noncoding	Benign
1	40091984	G	A	G40091984A	PPT1	NM_000310.3(PPT1):c.362+61C>T	noncoding	Benign
1	40092040	C	T	C40092040T	PPT1	NM_000310.3(PPT1):c.362+5G>A	noncoding	Pathogenic
1	40092054	C	T	C40092054T	PPT1	NM_000310.3(PPT1):c.353G>A:p.Gly118Asp	coding	Pathogenic
1	40092082	A	C	A40092082C	PPT1	NM_000310.3(PPT1):c.325T>G:p.Tyr109Asp	coding	Pathogenic/Likely_pathogenic
1	40092085	C	G	C40092085G	PPT1	NM_001142604.2(PPT1):c.125-2573G>C	coding	Pathogenic
1	40092171	T	C	T40092171C	PPT1	NM_001142604.2(PPT1):c.125-2659A>G	coding	Pathogenic
1	40092192	G	T	G40092192T	PPT1	NM_000310.3(PPT1):c.235-20C>A	noncoding	Benign
1	40092397	C	T	C40092397T	PPT1	NM_000310.3(PPT1):c.234+1G>A	noncoding	Pathogenic
1	40092409	T	G	T40092409G	PPT1	NM_000310.3(PPT1):c.223A>C:p.Thr75Pro	coding	Pathogenic
1	40092498	C	T	C40092498T	PPT1	NM_001142604.2(PPT1):c.125-2986G>A	coding	Pathogenic
1	40092673	T	A	T40092673A	PPT1	NM_000310.3(PPT1):c.125-166A>T	noncoding	Benign
1	40092839	A	G	A40092839G	PPT1	NM_000310.3(PPT1):c.125-332T>C	noncoding	Benign
1	40097097	A	C	A40097097C	PPT1	NM_000310.3(PPT1):c.124+18T>G	noncoding	Benign
1	40097210	A	T	A40097210T	PPT1	NM_000310.3(PPT1):c.29T>A:p.Leu10Ter	coding	Pathogenic/Likely_pathogenic
1	40097221	G	A	G40097221A	PPT1	NM_000310.3(PPT1):c.18C>T:p.Cys6=	coding	Benign
1	40097236	C	T	C40097236T	PPT1	NM_000310.3(PPT1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
1	40097237	A	G	A40097237G	PPT1	NM_000310.3(PPT1):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
1	40097267	G	C	G40097267C	PPT1	NM_000310.3(PPT1):c.-29C>G	noncoding	Benign
1	40097321	T	C	T40097321C	PPT1	NM_000310.3(PPT1):c.-83A>G	noncoding	Benign
1	40097347	G	T	G40097347T	PPT1	NM_000310.3(PPT1):c.-109C>A	noncoding	Benign
1	40202572	A	G	A40202572G	RLF	NM_012421.4(RLF):c.768A>G:p.Thr256=	coding	Benign
1	40202583	C	G	C40202583G	RLF	NM_012421.4(RLF):c.779C>G:p.Ser260Cys	coding	Benign
1	40237159	G	A	G40237159A	RLF	NM_012421.4(RLF):c.2457G>A:p.Gln819=	coding	Benign
1	40237302	C	A	C40237302A	RLF	NM_012421.4(RLF):c.2600C>A:p.Pro867His	coding	Benign
1	40239265	C	G	C40239265G	RLF	NM_012421.4(RLF):c.4563C>G:p.Ile1521Met	coding	Benign
1	40239850	C	T	C40239850T	RLF	NM_012421.4(RLF):c.5148C>T:p.Phe1716=	coding	Benign
1	40258392	C	T	C40258392T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.121C>T:p.Gln41Ter	coding	Pathogenic
1	40260952	C	T	C40260952T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.237C>T:p.Phe79=	coding	Benign/Likely_benign
1	40268514	A	G	A40268514G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.453A>G:p.Glu151=	coding	Benign
1	40270035	T	C	T40270035C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.535T>C:p.Leu179=	coding	Benign
1	40270145	T	G	T40270145G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.627+18T>G	noncoding	Benign
1	40271844	T	G	T40271844G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.628-50T>G	noncoding	Benign
1	40271917	T	C	T40271917C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.651T>C:p.Asp217=	coding	Benign
1	40271981	G	T	G40271981T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.715G>T:p.Glu239Ter	coding	Pathogenic
1	40272009	C	T	C40272009T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.743C>T:p.Pro248Leu	coding	Pathogenic
1	40281530	G	A	G40281530A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.954+3G>A	noncoding	Benign
1	40285960	C	T	C40285960T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.990C>T:p.Leu330=	coding	Benign
1	40285988	T	C	T40285988C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1018T>C:p.Trp340Arg	coding	Pathogenic
1	40290891	T	G	T40290891G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1097T>G:p.Leu366Ter	coding	Pathogenic
1	40292444	G	A	G40292444A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1204-1G>A	noncoding	Pathogenic
1	40292590	G	A	G40292590A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1349G>A:p.Trp450Ter	coding	Pathogenic
1	40292728	C	A	C40292728A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.*59C>A	noncoding	Benign
1	40293190	A	G	A40293190G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.*521A>G	noncoding	Benign
1	40293392	C	T	C40293392T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.*723C>T	noncoding	Benign
1	40293559	A	G	A40293559G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.*890A>G	noncoding	Benign
1	40300604	G	A	G40300604A	COL9A2	NM_001852.4(COL9A2):c.*578C>T	noncoding	Benign
1	40300639	C	T	C40300639T	COL9A2	NM_001852.4(COL9A2):c.*543G>A	noncoding	Benign
1	40300870	A	T	A40300870T	COL9A2	NM_001852.4(COL9A2):c.*312T>A	noncoding	Benign
1	40300919	G	A	G40300919A	COL9A2	NM_001852.4(COL9A2):c.*263C>T	noncoding	Benign
1	40300946	C	T	C40300946T	COL9A2	NM_001852.4(COL9A2):c.*236G>A	noncoding	Benign
1	40301060	A	G	A40301060G	COL9A2	NM_001852.4(COL9A2):c.*122T>C	noncoding	Benign
1	40301071	G	A	G40301071A	COL9A2	NM_001852.4(COL9A2):c.*111C>T	noncoding	Benign
1	40301251	G	A	G40301251A	COL9A2	NM_001852.4(COL9A2):c.2001C>T:p.Ala667=	coding	Benign
1	40301271	G	T	G40301271T	COL9A2	NM_001852.4(COL9A2):c.1981C>A:p.Pro661Thr	coding	Benign/Likely_benign
1	40301803	A	G	A40301803G	COL9A2	NM_001852.4(COL9A2):c.1870+9T>C	noncoding	Benign/Likely_benign
1	40301906	A	G	A40301906G	COL9A2	NM_001852.4(COL9A2):c.1793-17T>C	noncoding	Benign
1	40302604	C	T	C40302604T	COL9A2	NM_001852.4(COL9A2):c.1792+17G>A	noncoding	Benign
1	40302632	G	A	G40302632A	COL9A2	NM_001852.4(COL9A2):c.1781C>T:p.Thr594Met	coding	Benign
1	40302672	C	T	C40302672T	COL9A2	NM_001852.4(COL9A2):c.1741G>A:p.Val581Ile	coding	Benign
1	40302853	G	A	G40302853A	COL9A2	NM_001852.4(COL9A2):c.1604-44C>T	noncoding	Benign
1	40302953	C	T	C40302953T	COL9A2	NM_001852.4(COL9A2):c.1604-144G>A	noncoding	Benign
1	40303183	G	A	G40303183A	COL9A2	NM_001852.4(COL9A2):c.1551C>T:p.Gly517=	coding	Benign/Likely_benign
1	40303502	G	T	G40303502T	COL9A2	NM_001852.4(COL9A2):c.1548+28C>A	noncoding	Benign
1	40303513	C	G	C40303513G	COL9A2	NM_001852.4(COL9A2):c.1548+17G>C	noncoding	Benign
1	40303912	T	C	T40303912C	COL9A2	NM_001852.4(COL9A2):c.1368+16A>G	noncoding	Benign
1	40303916	C	T	C40303916T	COL9A2	NM_001852.4(COL9A2):c.1368+12G>A	noncoding	Benign
1	40304111	G	A	G40304111A	COL9A2	NM_001852.4(COL9A2):c.1288-12C>T	noncoding	Benign
1	40304370	G	A	G40304370A	COL9A2	NM_001852.4(COL9A2):c.1237C>T:p.Pro413Ser	coding	Benign/Likely_benign
1	40304753	G	A	G40304753A	COL9A2	NM_001852.4(COL9A2):c.1161+41C>T	noncoding	Benign
1	40304784	A	T	A40304784T	COL9A2	NM_001852.4(COL9A2):c.1161+10T>A	noncoding	Benign
1	40304805	T	G	T40304805G	COL9A2	NM_001852.4(COL9A2):c.1150A>C:p.Met384Leu	coding	Benign/Likely_benign
1	40305760	C	T	C40305760T	COL9A2	NM_001852.4(COL9A2):c.1062G>A:p.Pro354=	coding	Benign
1	40306136	G	A	G40306136A	COL9A2	NM_001852.4(COL9A2):c.1053+7C>T	noncoding	Benign
1	40306199	A	C	A40306199C	COL9A2	NM_001852.4(COL9A2):c.1009-12T>G	noncoding	Benign
1	40306322	G	C	G40306322C	COL9A2	NM_001852.4(COL9A2):c.1009-135C>G	noncoding	Benign
1	40307447	G	T	G40307447T	COL9A2	NM_001852.4(COL9A2):c.1007C>A:p.Ala336Glu	coding	Benign/Likely_benign
1	40307451	G	C	G40307451C	COL9A2	NM_001852.4(COL9A2):c.1003C>G:p.Leu335Val	coding	Benign
1	40307477	T	C	T40307477C	COL9A2	NM_001852.4(COL9A2):c.977A>G:p.Gln326Arg	coding	Benign
1	40307478	G	A	G40307478A	COL9A2	NM_001852.4(COL9A2):c.976C>T:p.Gln326Ter	coding	Benign/Likely_benign
1	40307503	G	C	G40307503C	COL9A2	NM_001852.4(COL9A2):c.955-4C>G	noncoding	Benign
1	40308409	C	T	C40308409T	COL9A2	NM_001852.4(COL9A2):c.847-164G>A	noncoding	Benign
1	40308522	A	C	A40308522C	COL9A2	NM_001852.4(COL9A2):c.847-277T>G	noncoding	Benign
1	40310087	G	A	G40310087A	COL9A2	NM_001852.4(COL9A2):c.792+24C>T	noncoding	Benign
1	40310095	G	A	G40310095A	COL9A2	NM_001852.4(COL9A2):c.792+16C>T	noncoding	Benign
1	40310254	A	G	A40310254G	COL9A2	NM_001852.4(COL9A2):c.738+10T>C	noncoding	Benign
1	40310265	G	A	G40310265A	COL9A2	NM_001852.4(COL9A2):c.737C>T:p.Thr246Met	coding	Benign
1	40311080	C	A	C40311080A	COL9A2	NM_001852.4(COL9A2):c.630+13G>T	noncoding	Benign
1	40311262	T	C	T40311262C	COL9A2	NM_001852.4(COL9A2):c.544A>G:p.Met182Val	coding	Benign/Likely_benign
1	40312120	G	A	G40312120A	COL9A2	NM_001852.4(COL9A2):c.364-8C>T	noncoding	Benign
1	40312128	T	G	T40312128G	COL9A2	NM_001852.4(COL9A2):c.364-16A>C	noncoding	Benign
1	40312132	T	C	T40312132C	COL9A2	NM_001852.4(COL9A2):c.364-20A>G	noncoding	Benign
1	40312601	G	A	G40312601A	COL9A2	NM_001852.4(COL9A2):c.312C>T:p.Pro104=	coding	Benign/Likely_benign
1	40312622	C	T	C40312622T	COL9A2	NM_001852.4(COL9A2):c.304-13G>A	noncoding	Benign
1	40312705	C	T	C40312705T	COL9A2	NM_001852.4(COL9A2):c.303+26G>A	noncoding	Benign
1	40312791	A	G	A40312791G	COL9A2	NM_001852.4(COL9A2):c.250-7T>C	noncoding	Benign/Likely_benign
1	40314169	G	T	G40314169T	COL9A2	NM_001852.4(COL9A2):c.249+36C>A	noncoding	Benign
1	40314347	C	G	C40314347G	COL9A2	NM_001852.4(COL9A2):c.186+5G>C	noncoding	Pathogenic
1	40314350	A	G	A40314350G	COL9A2	NM_001852.4(COL9A2):c.186+2T>C	noncoding	Pathogenic
1	40314395	A	G	A40314395G	COL9A2	NM_001852.4(COL9A2):c.151-8T>C	noncoding	Benign
1	40315317	G	A	G40315317A	COL9A2	NM_001852.4(COL9A2):c.150+273C>T	noncoding	Benign
1	40315505	A	C	A40315505C	COL9A2	NM_001852.4(COL9A2):c.150+85T>G	noncoding	Benign
1	40315645	C	T	C40315645T	COL9A2	NM_001852.4(COL9A2):c.95G>A:p.Arg32Gln	coding	Benign/Likely_benign
1	40315652	C	T	C40315652T	COL9A2	NM_001852.4(COL9A2):c.88G>A:p.Gly30Arg	coding	Benign
1	40315941	T	C	T40315941C	COL9A2	NM_001852.4(COL9A2):c.76-277A>G	noncoding	Benign
1	40317167	G	A	G40317167A	COL9A2	NM_001852.4(COL9A2):c.31C>T:p.Leu11Phe	coding	Benign/Likely_benign
1	40489205	G	C	G40489205C	ZFP69	NM_001320179.2(ZFP69):c.337G>C:p.Val113Leu	coding	Benign
1	40515154	A	G	A40515154G	EXO5	NM_022774.2(EXO5):c.610A>G:p.Met204Val	coding	Benign
1	40784233	T	C	T40784233C	KCNQ4	NM_004700.4(KCNQ4):c.140T>C:p.Leu47Pro	coding	Pathogenic
1	40784269	C	T	C40784269T	KCNQ4	NM_004700.4(KCNQ4):c.176C>T:p.Pro59Leu	coding	Benign
1	40817247	C	T	C40817247T	KCNQ4	NM_004700.4(KCNQ4):c.315-18C>T	noncoding	Benign
1	40817249	C	T	C40817249T	KCNQ4	NM_004700.4(KCNQ4):c.315-16C>T	noncoding	Benign
1	40818223	A	C	A40818223C	KCNQ4	NM_004700.4(KCNQ4):c.465A>C:p.Gly155=	coding	Benign/Likely_benign
1	40818518	C	G	C40818518G	KCNQ4	NM_004700.4(KCNQ4):c.546C>G:p.Phe182Leu	coding	Pathogenic
1	40818620	C	T	C40818620T	KCNQ4	NM_004700.4(KCNQ4):c.648C>T:p.Arg216=	coding	Benign
1	40818661	T	A	T40818661A	KCNQ4	NM_004700.4(KCNQ4):c.689T>A:p.Val230Glu	coding	Pathogenic
1	40818694	G	C	G40818694C	KCNQ4	NM_004700.4(KCNQ4):c.708+14G>C	noncoding	Benign
1	40819415	T	C	T40819415C	KCNQ4	NM_004700.4(KCNQ4):c.777T>C:p.Ala259=	coding	Benign
1	40819416	G	A	G40819416A	KCNQ4	NM_004700.4(KCNQ4):c.778G>A:p.Glu260Lys	coding	Pathogenic
1	40819423	A	T	A40819423T	KCNQ4	NM_004700.4(KCNQ4):c.785A>T:p.Asp262Val	coding	Pathogenic
1	40819434	G	T	G40819434T	KCNQ4	NM_004700.4(KCNQ4):c.796G>T:p.Asp266Tyr	coding	Pathogenic
1	40819446	T	C	T40819446C	KCNQ4	NM_004700.4(KCNQ4):c.808T>C:p.Tyr270His	coding	Pathogenic
1	40819459	T	A	T40819459A	KCNQ4	NM_004700.4(KCNQ4):c.821T>A:p.Leu274His	coding	Pathogenic
1	40819461	T	C	T40819461C	KCNQ4	NM_004700.4(KCNQ4):c.823T>C:p.Trp275Arg	coding	Pathogenic
1	40819465	G	C	G40819465C	KCNQ4	NM_004700.4(KCNQ4):c.827G>C:p.Trp276Ser	coding	Pathogenic
1	40819499	C	A	C40819499A	KCNQ4	NM_004700.4(KCNQ4):c.834+27C>A	noncoding	Benign
1	40819881	T	C	T40819881C	KCNQ4	NM_004700.4(KCNQ4):c.841T>C:p.Leu281=	coding	Benign
1	40819882	T	C	T40819882C	KCNQ4	NM_004700.4(KCNQ4):c.842T>C:p.Leu281Ser	coding	Pathogenic
1	40819893	G	A	G40819893A	KCNQ4	NM_004700.4(KCNQ4):c.853G>A:p.Gly285Ser	coding	Pathogenic
1	40819893	G	T	G40819893T	KCNQ4	NM_004700.4(KCNQ4):c.853G>T:p.Gly285Cys	coding	Pathogenic
1	40819899	G	C	G40819899C	KCNQ4	NM_004700.4(KCNQ4):c.859G>C:p.Gly287Arg	coding	Pathogenic
1	40819911	C	T	C40819911T	KCNQ4	NM_004700.4(KCNQ4):c.871C>T:p.Pro291Ser	coding	Pathogenic
1	40819912	C	T	C40819912T	KCNQ4	NM_004700.4(KCNQ4):c.872C>T:p.Pro291Leu	coding	Pathogenic
1	40819913	G	A	G40819913A	KCNQ4	NM_004700.4(KCNQ4):c.873G>A:p.Pro291=	coding	Benign
1	40819919	A	G	A40819919G	KCNQ4	NM_004700.4(KCNQ4):c.879A>G:p.Thr293=	coding	Benign
1	40819926	G	A	G40819926A	KCNQ4	NM_004700.4(KCNQ4):c.886G>A:p.Gly296Ser	coding	Pathogenic
1	40819931	G	T	G40819931T	KCNQ4	NM_004700.4(KCNQ4):c.891G>T:p.Arg297Ser	coding	Pathogenic
1	40820153	C	G	C40820153G	KCNQ4	NM_004700.4(KCNQ4):c.946-12C>G	noncoding	Benign
1	40820191	G	A	G40820191A	KCNQ4	NM_004700.4(KCNQ4):c.972G>A:p.Leu324=	coding	Benign
1	40824154	C	T	C40824154T	KCNQ4	NM_004700.4(KCNQ4):c.1188C>T:p.Pro396=	coding	Benign/Likely_benign
1	40824197	C	T	C40824197T	KCNQ4	NM_004700.4(KCNQ4):c.1231C>T:p.Arg411Cys	coding	Benign/Likely_benign
1	40831116	T	C	T40831116C	KCNQ4	NM_004700.4(KCNQ4):c.1325T>C:p.Met442Thr	coding	Benign
1	40831156	T	G	T40831156G	KCNQ4	NM_004700.4(KCNQ4):c.1365T>G:p.His455Gln	coding	Benign
1	40831229	C	T	C40831229T	KCNQ4	NM_004700.4(KCNQ4):c.1438C>T:p.Gln480Ter	coding	Pathogenic
1	40835010	C	T	C40835010T	KCNQ4	NM_004700.4(KCNQ4):c.1657C>T:p.Leu553=	coding	Benign
1	40835018	G	A	G40835018A	KCNQ4	NM_004700.4(KCNQ4):c.1665G>A:p.Pro555=	coding	Benign
1	40837737	C	G	C40837737G	KCNQ4	NM_004700.4(KCNQ4):c.1818C>G:p.Asp606Glu	coding	Benign
1	40838232	G	A	G40838232A	KCNQ4	NM_004700.4(KCNQ4):c.1876-79G>A	noncoding	Benign
1	40838421	C	G	C40838421G	KCNQ4	NM_004700.4(KCNQ4):c.1986C>G:p.Pro662=	coding	Benign
1	40838474	C	T	C40838474T	KCNQ4	NM_004700.4(KCNQ4):c.2039C>T:p.Ser680Phe	coding	Pathogenic
1	40988656	A	G	A40988656G	CTPS1	NM_001905.4(CTPS1):c.501A>G:p.Gln167=	coding	Benign
1	40991179	G	A	G40991179A	CTPS1	NM_001905.4(CTPS1):c.570G>A:p.Gly190=	coding	Benign
1	41001131	G	A	G41001131A	CTPS1	NM_001905.4(CTPS1):c.1094+14G>A	noncoding	Benign
1	41003115	C	T	C41003115T	CTPS1	NM_001905.4(CTPS1):c.1191C>T:p.Gly397=	coding	Benign
1	41009488	G	C	G41009488C	CTPS1	NM_001905.4(CTPS1):c.1590G>C:p.Leu530=	coding	Benign
1	41009515	A	G	A41009515G	CTPS1	NM_001905.4(CTPS1):c.1617A>G:p.Pro539=	coding	Benign
1	41009596	G	A	G41009596A	CTPS1	NM_001905.4(CTPS1):c.1691+7G>A	noncoding	Benign
1	41010160	G	C	G41010160C	CTPS1	NM_001905.4(CTPS1):c.1692-1G>C	noncoding	Pathogenic
1	41481197	C	T	C41481197T	EDN2	NM_001956.5(EDN2):c.345-4G>A	noncoding	Benign
1	41510546	G	A	G41510546A	HIVEP3	NM_024503.5(HIVEP3):c.7126C>T:p.Pro2376Ser	coding	Benign
1	41510639	C	T	C41510639T	HIVEP3	NM_024503.5(HIVEP3):c.7033G>A:p.Ala2345Thr	coding	Benign
1	41510657	T	C	T41510657C	HIVEP3	NM_024503.5(HIVEP3):c.7015A>G:p.Thr2339Ala	coding	Benign
1	41510858	C	T	C41510858T	HIVEP3	NM_024503.5(HIVEP3):c.6814G>A:p.Gly2272Arg	coding	Benign
1	41510904	A	G	A41510904G	HIVEP3	NM_024503.5(HIVEP3):c.6768T>C:p.Pro2256=	coding	Benign
1	41513179	G	A	G41513179A	HIVEP3	NM_024503.5(HIVEP3):c.6042C>T:p.His2014=	coding	Benign
1	41513485	A	G	A41513485G	HIVEP3	NM_024503.5(HIVEP3):c.5736T>C:p.Ala1912=	coding	Benign
1	41580942	G	T	G41580942T	HIVEP3	NM_024503.5(HIVEP3):c.3856C>A:p.Arg1286=	coding	Benign
1	41581141	C	T	C41581141T	HIVEP3	NM_024503.5(HIVEP3):c.3657G>A:p.Gln1219=	coding	Benign
1	41583361	G	A	G41583361A	HIVEP3	NM_024503.5(HIVEP3):c.1437C>T:p.Ser479=	coding	Benign
1	41583469	C	G	C41583469G	HIVEP3	NM_024503.5(HIVEP3):c.1329G>C:p.Leu443=	coding	Benign
1	41583871	G	A	G41583871A	HIVEP3	NM_024503.5(HIVEP3):c.927C>T:p.Ser309=	coding	Benign
1	41584693	G	T	G41584693T	HIVEP3	NM_024503.5(HIVEP3):c.105C>A:p.Val35=	coding	Benign
1	42457276	G	C	G42457276C	PPCS	NM_024664.4(PPCS):c.538G>C:p.Ala180Pro	coding	Pathogenic
1	42459688	A	T	A42459688T	PPCS	NM_024664.4(PPCS):c.698A>T:p.Glu233Val	coding	Pathogenic
1	42733444	A	G	A42733444G	CLDN19	NM_148960.3(CLDN19):c.*1642T>C	noncoding	Benign
1	42733759	A	G	A42733759G	CLDN19	NM_148960.3(CLDN19):c.*1327T>C	noncoding	Benign
1	42734068	C	A	C42734068A	CLDN19	NM_148960.3(CLDN19):c.*1018G>T	noncoding	Benign
1	42734213	T	C	T42734213C	CLDN19	NM_148960.3(CLDN19):c.*873A>G	noncoding	Benign
1	42734855	T	C	T42734855C	CLDN19	NM_148960.3(CLDN19):c.*231A>G	noncoding	Benign
1	42734928	C	T	C42734928T	CLDN19	NM_148960.3(CLDN19):c.*158G>A	noncoding	Benign
1	42734995	T	C	T42734995C	CLDN19	NM_148960.3(CLDN19):c.*91A>G	noncoding	Benign
1	42735863	G	A	G42735863A	CLDN19	NM_148960.3(CLDN19):c.626+15C>T	coding	Benign
1	42735905	C	T	C42735905T	CLDN19	NM_148960.3(CLDN19):c.599G>A:p.Arg200Gln	coding	Benign
1	42735943	C	T	C42735943T	CLDN19	NM_148960.3(CLDN19):c.561G>A:p.Pro187=	coding	Benign
1	42738421	C	A	C42738421A	CLDN19	NM_148960.3(CLDN19):c.388G>T:p.Gly130Cys	coding	Pathogenic
1	42738540	A	C	A42738540C	CLDN19	NM_148960.3(CLDN19):c.269T>G:p.Leu90Arg	coding	Pathogenic
1	42738540	A	G	A42738540G	CLDN19	NM_148960.3(CLDN19):c.269T>C:p.Leu90Pro	coding	Pathogenic
1	42739895	G	A	G42739895A	CLDN19	NM_148960.3(CLDN19):c.169C>T:p.Gln57Ter	coding	Pathogenic
1	42739895	G	C	G42739895C	CLDN19	NM_148960.3(CLDN19):c.169C>G:p.Gln57Glu	coding	Pathogenic
1	42740005	C	T	C42740005T	CLDN19	NM_148960.3(CLDN19):c.59G>A:p.Gly20Asp	coding	Pathogenic
1	42740025	C	A	C42740025A	CLDN19	NM_148960.3(CLDN19):c.39G>T:p.Leu13Phe	coding	Benign
1	42746440	C	T	C42746440T	P3H1	NM_022356.4(P3H1):c.*257G>A	noncoding	Benign
1	42746793	G	A	G42746793A	P3H1	NM_022356.3(P3H1):c.2115C>T:p.Leu705=	coding	Benign/Likely_benign
1	42747079	C	T	C42747079T	P3H1	NM_022356.3(P3H1):c.2055+193G>A	coding	Benign
1	42747198	A	T	A42747198T	P3H1	NM_022356.3(P3H1):c.2055+74T>A	coding	Benign
1	42747255	G	A	G42747255A	P3H1	NM_022356.3(P3H1):c.2055+17C>T	coding	Benign
1	42747259	G	C	G42747259C	P3H1	NM_022356.3(P3H1):c.2055+13C>G	coding	Benign/Likely_benign
1	42747432	A	C	A42747432C	P3H1	NM_022356.3(P3H1):c.1915-20T>G	noncoding	Benign
1	42747614	C	T	C42747614T	P3H1	NM_022356.3(P3H1):c.1914+109G>A	noncoding	Benign
1	42747828	C	T	C42747828T	P3H1	NM_022356.3(P3H1):c.1839-30G>A	noncoding	Benign
1	42747939	T	C	T42747939C	P3H1	NM_022356.3(P3H1):c.1839-141A>G	noncoding	Benign
1	42748126	A	G	A42748126G	P3H1	NM_022356.3(P3H1):c.1838+74T>C	noncoding	Benign
1	42749900	A	G	A42749900G	P3H1	NM_022356.3(P3H1):c.1720+286T>C	noncoding	Benign
1	42750190	G	A	G42750190A	P3H1	NM_022356.3(P3H1):c.1716C>T:p.Ile572=	coding	Benign
1	42750250	G	T	G42750250T	P3H1	NM_022356.3(P3H1):c.1656C>A:p.Tyr552Ter	coding	Pathogenic
1	42752273	C	T	C42752273T	P3H1	NM_022356.3(P3H1):c.1569+1G>A	noncoding	Pathogenic
1	42752536	C	A	C42752536A	P3H1	NM_022356.3(P3H1):c.1473+1G>T	noncoding	Pathogenic
1	42752551	G	A	G42752551A	P3H1	NM_022356.3(P3H1):c.1459C>T:p.Gln487Ter	coding	Pathogenic
1	42752665	C	G	C42752665G	P3H1	NM_022356.3(P3H1):c.1346-1G>C	coding	Pathogenic
1	42754988	G	C	G42754988C	P3H1	NM_022356.4(P3H1):c.1226C>G:p.Ser409Ter	coding	Pathogenic
1	42755166	T	A	T42755166A	P3H1	NM_022356.3(P3H1):c.1222A>T:p.Lys408Ter	coding	Pathogenic
1	42755598	C	A	C42755598A	P3H1	NM_022356.3(P3H1):c.1120G>T:p.Glu374Ter	coding	Pathogenic
1	42755616	G	A	G42755616A	P3H1	NM_022356.3(P3H1):c.1102C>T:p.Arg368Ter	coding	Pathogenic
1	42757782	C	A	C42757782A	P3H1	NM_022356.3(P3H1):c.1080+1G>T	noncoding	Pathogenic
1	42757792	G	A	G42757792A	P3H1	NM_022356.3(P3H1):c.1071C>T:p.Gly357=	coding	Benign/Likely_benign
1	42757803	T	A	T42757803A	P3H1	NM_022356.3(P3H1):c.1060A>T:p.Arg354Ter	coding	Pathogenic
1	42757974	T	G	T42757974G	P3H1	NM_022356.3(P3H1):c.941-52A>C	noncoding	Benign
1	42758762	T	C	T42758762C	P3H1	NM_022356.3(P3H1):c.940+90A>G	noncoding	Benign
1	42762196	G	A	G42762196A	P3H1	NM_022356.3(P3H1):c.618+127C>T	noncoding	Benign
1	42762400	G	A	G42762400A	P3H1	NM_022356.3(P3H1):c.541C>T:p.Gln181Ter	coding	Pathogenic
1	42762518	T	A	T42762518A	P3H1	NM_022356.3(P3H1):c.466-43A>T	noncoding	Benign
1	42766580	G	T	G42766580T	P3H1	NM_022356.3(P3H1):c.392C>A:p.Ser131Ter	coding	Pathogenic
1	42766939	T	C	T42766939C	P3H1	NM_022356.4(P3H1):c.33A>G:p.Thr11=	coding	Benign/Likely_benign
1	42767136	C	G	C42767136G	P3H1	NM_022356.3(P3H1):c.-165G>C	noncoding	Benign
1	42816463	G	A	G42816463A	SVBP	NM_199342.4(SVBP):c.82C>T:p.Gln28Ter	coding	Pathogenic
1	42830459	C	T	C42830459T	ERMAP	NM_001017922.2(ERMAP):c.11C>T:p.Ala4Val	coding	Benign
1	42830901	C	T	C42830901T	ERMAP	NM_001017922.2(ERMAP):c.219C>T:p.Arg73=	coding	Benign
1	42925453	C	T	C42925453T	SLC2A1	NM_006516.3(SLC2A1):c.*1588G>A	noncoding	Benign
1	42925454	T	C	T42925454C	SLC2A1	NM_006516.3(SLC2A1):c.*1587A>G	noncoding	Benign
1	42925828	C	A	C42925828A	SLC2A1	NM_006516.3(SLC2A1):c.*1213G>T	noncoding	Benign
1	42926070	C	T	C42926070T	SLC2A1	NM_006516.3(SLC2A1):c.*971G>A	noncoding	Benign
1	42926415	C	T	C42926415T	SLC2A1	NM_006516.3(SLC2A1):c.*626G>A	noncoding	Benign
1	42926470	G	A	G42926470A	SLC2A1	NM_006516.3(SLC2A1):c.*571C>T	noncoding	Benign
1	42926578	A	G	A42926578G	SLC2A1	NM_006516.4(SLC2A1):c.*463T>C	noncoding	Benign
1	42926579	C	G	C42926579G	SLC2A1	NM_006516.3(SLC2A1):c.*462G>C	noncoding	Benign
1	42926695	C	T	C42926695T	SLC2A1	NM_006516.3(SLC2A1):c.*346G>A	noncoding	Benign
1	42926756	G	A	G42926756A	SLC2A1	NM_006516.4(SLC2A1):c.*285C>T	noncoding	Benign
1	42926981	G	A	G42926981A	SLC2A1	NM_006516.3(SLC2A1):c.*60C>T	noncoding	Benign
1	42927019	C	T	C42927019T	SLC2A1	NM_006516.3(SLC2A1):c.*22G>A	noncoding	Benign
1	42927066	G	A	G42927066A	SLC2A1	NM_006516.4(SLC2A1):c.1454C>T:p.Pro485Leu	coding	Pathogenic
1	42927083	G	A	G42927083A	SLC2A1	NM_006516.3(SLC2A1):c.1437C>T:p.Pro479=	coding	Benign/Likely_benign
1	42927148	G	A	G42927148A	SLC2A1	NM_006516.3(SLC2A1):c.1372C>T:p.Arg458Trp	coding	Pathogenic/Likely_pathogenic
1	42927148	G	T	G42927148T	SLC2A1	NM_006516.3(SLC2A1):c.1372C>A:p.Arg458=	coding	Benign
1	42927154	T	A	T42927154A	SLC2A1	NM_006516.3(SLC2A1):c.1366A>T:p.Lys456Ter	coding	Pathogenic
1	42927173	G	T	G42927173T	SLC2A1	NM_006516.3(SLC2A1):c.1347C>A:p.Tyr449Ter	coding	Pathogenic
1	42927224	G	A	G42927224A	SLC2A1	NM_006516.3(SLC2A1):c.1296C>T:p.Tyr432=	coding	Benign/Likely_benign
1	42927224	G	T	G42927224T	SLC2A1	NM_006516.3(SLC2A1):c.1296C>A:p.Tyr432Ter	coding	Pathogenic
1	42927596	G	C	G42927596C	SLC2A1	NM_006516.3(SLC2A1):c.1278+9C>G	noncoding	Benign/Likely_benign
1	42927611	A	C	A42927611C	SLC2A1	NM_006516.3(SLC2A1):c.1272T>G:p.Tyr424Ter	coding	Pathogenic
1	42927620	G	T	G42927620T	SLC2A1	NM_006516.4(SLC2A1):c.1263C>A:p.Cys421Ter	coding	Pathogenic
1	42927622	A	G	A42927622G	SLC2A1	NM_006516.3(SLC2A1):c.1261T>C:p.Cys421Arg	coding	Pathogenic
1	42927647	C	T	C42927647T	SLC2A1	NM_006516.3(SLC2A1):c.1236G>A:p.Trp412Ter	coding	Pathogenic
1	42927684	C	A	C42927684A	SLC2A1	NM_006516.3(SLC2A1):c.1199G>T:p.Arg400Leu	coding	Pathogenic
1	42927684	C	T	C42927684T	SLC2A1	NM_006516.3(SLC2A1):c.1199G>A:p.Arg400His	coding	Pathogenic
1	42927685	G	A	G42927685A	SLC2A1	NM_006516.3(SLC2A1):c.1198C>T:p.Arg400Cys	coding	Pathogenic
1	42927713	G	A	G42927713A	SLC2A1	NM_006516.3(SLC2A1):c.1170C>T:p.Ile390=	coding	Benign
1	42927728	G	A	G42927728A	SLC2A1	NM_006516.3(SLC2A1):c.1155C>T:p.Pro385=	coding	Benign/Likely_benign
1	42927795	C	T	C42927795T	SLC2A1	NM_006516.3(SLC2A1):c.1088G>A:p.Trp363Ter	coding	Pathogenic
1	42928941	T	C	T42928941C	SLC2A1	NM_006516.3(SLC2A1):c.1065A>G:p.Leu355=	coding	Benign
1	42928947	G	A	G42928947A	SLC2A1	NM_006516.3(SLC2A1):c.1059C>T:p.Ile353=	coding	Benign
1	42928983	G	A	G42928983A	SLC2A1	NM_006516.3(SLC2A1):c.1023C>T:p.Leu341=	coding	Benign/Likely_benign
1	42928995	G	A	G42928995A	SLC2A1	NM_006516.3(SLC2A1):c.1011C>T:p.His337=	coding	Benign
1	42928996	T	A	T42928996A	SLC2A1	NM_006516.3(SLC2A1):c.1010A>T:p.His337Leu	coding	Pathogenic
1	42929001	G	C	G42929001C	SLC2A1	NM_006516.3(SLC2A1):c.1005C>G:p.Thr335=	coding	Benign/Likely_benign
1	42929008	C	T	C42929008T	SLC2A1	NM_006516.3(SLC2A1):c.998G>A:p.Arg333Gln	coding	Pathogenic/Likely_pathogenic
1	42929009	G	A	G42929009A	SLC2A1	NM_006516.3(SLC2A1):c.997C>T:p.Arg333Trp	coding	Pathogenic/Likely_pathogenic
1	42929018	G	A	G42929018A	SLC2A1	NM_006516.3(SLC2A1):c.988C>T:p.Arg330Ter	coding	Pathogenic
1	42929050	T	C	T42929050C	SLC2A1	NM_006516.3(SLC2A1):c.973-17A>G	noncoding	Benign
1	42929211	G	A	G42929211A	SLC2A1	NM_006516.3(SLC2A1):c.971C>T:p.Ser324Leu	coding	Pathogenic
1	42929212	A	G	A42929212G	SLC2A1	NM_006516.3(SLC2A1):c.970T>C:p.Ser324Pro	coding	Pathogenic
1	42929216	G	A	G42929216A	SLC2A1	NM_006516.3(SLC2A1):c.966C>T:p.Val322=	coding	Benign
1	42929242	C	T	C42929242T	SLC2A1	NM_006516.3(SLC2A1):c.940G>A:p.Gly314Ser	coding	Pathogenic
1	42929245	A	G	A42929245G	SLC2A1	NM_006516.3(SLC2A1):c.937T>C:p.Ser313Pro	coding	Pathogenic
1	42929287	C	T	C42929287T	SLC2A1	NM_006516.3(SLC2A1):c.895G>A:p.Glu299Lys	coding	Benign/Likely_benign
1	42929297	C	T	C42929297T	SLC2A1	NM_006516.3(SLC2A1):c.885G>A:p.Thr295=	coding	Benign/Likely_benign
1	42929298	G	A	G42929298A	SLC2A1	NM_006516.3(SLC2A1):c.884C>T:p.Thr295Met	coding	Pathogenic
1	42929596	G	A	G42929596A	SLC2A1	NM_006516.3(SLC2A1):c.864C>T:p.Asn288=	coding	Benign/Likely_benign
1	42929601	T	G	T42929601G	SLC2A1	NM_006516.3(SLC2A1):c.859A>C:p.Ile287Leu	coding	Pathogenic
1	42929603	C	T	C42929603T	SLC2A1	NM_006516.3(SLC2A1):c.857G>A:p.Gly286Asp	coding	Pathogenic
1	42929612	T	C	T42929612C	SLC2A1	NM_006516.3(SLC2A1):c.848A>G:p.Gln283Arg	coding	Pathogenic
1	42929613	G	A	G42929613A	SLC2A1	NM_006516.3(SLC2A1):c.847C>T:p.Gln283Ter	coding	Pathogenic
1	42929616	G	A	G42929616A	SLC2A1	NM_006516.3(SLC2A1):c.844C>T:p.Gln282Ter	coding	Pathogenic
1	42929625	G	A	G42929625A	SLC2A1	NM_006516.3(SLC2A1):c.835C>T:p.Gln279Ter	coding	Pathogenic
1	42929637	C	T	C42929637T	SLC2A1	NM_006516.3(SLC2A1):c.823G>A:p.Ala275Thr	coding	Pathogenic
1	42929652	G	A	G42929652A	SLC2A1	NM_006516.3(SLC2A1):c.808C>T:p.Gln270Ter	coding	Pathogenic
1	42929662	G	A	G42929662A	SLC2A1	NM_006516.4(SLC2A1):c.798C>T:p.Pro266=	coding	Benign
1	42929712	G	A	G42929712A	SLC2A1	NM_006516.3(SLC2A1):c.748C>T:p.Gln250Ter	coding	Pathogenic
1	42929736	G	A	G42929736A	SLC2A1	NM_006516.4(SLC2A1):c.724C>T:p.Gln242Ter	coding	Pathogenic
1	42929766	G	A	G42929766A	SLC2A1	NM_006516.3(SLC2A1):c.694C>T:p.Arg232Cys	coding	Pathogenic
1	42929791	C	T	C42929791T	SLC2A1	NM_006516.3(SLC2A1):c.680-11G>A	noncoding	Pathogenic
1	42929792	G	A	G42929792A	SLC2A1	NM_006516.3(SLC2A1):c.680-12C>T	noncoding	Benign
1	42929866	C	A	C42929866A	SLC2A1	NM_006516.3(SLC2A1):c.679+7G>T	noncoding	Benign
1	42929866	C	G	C42929866G	SLC2A1	NM_006516.3(SLC2A1):c.679+7G>C	noncoding	Benign
1	42929872	C	G	C42929872G	SLC2A1	NM_006516.3(SLC2A1):c.679+1G>C	noncoding	Pathogenic
1	42929885	G	A	G42929885A	SLC2A1	NM_006516.3(SLC2A1):c.667C>T:p.Arg223Trp	coding	Pathogenic
1	42929895	G	A	G42929895A	SLC2A1	NM_006516.3(SLC2A1):c.657C>T:p.Asn219=	coding	Benign/Likely_benign
1	42929917	C	T	C42929917T	SLC2A1	NM_006516.3(SLC2A1):c.635G>A:p.Arg212His	coding	Pathogenic/Likely_pathogenic
1	42929918	G	A	G42929918A	SLC2A1	NM_006516.3(SLC2A1):c.634C>T:p.Arg212Cys	coding	Pathogenic
1	42929927	C	A	C42929927A	SLC2A1	NM_006516.3(SLC2A1):c.625G>T:p.Glu209Ter	coding	Pathogenic
1	42929964	C	T	C42929964T	SLC2A1	NM_006516.3(SLC2A1):c.588G>A:p.Pro196=	coding	Benign
1	42929995	C	T	C42929995T	SLC2A1	NM_006516.3(SLC2A1):c.557G>A:p.Trp186Ter	coding	Pathogenic
1	42930036	C	T	C42930036T	SLC2A1	NM_006516.3(SLC2A1):c.517-1G>A	coding	Pathogenic
1	42930053	C	T	C42930053T	SLC2A1	NM_006516.3(SLC2A1):c.517-18G>A	noncoding	Benign
1	42930635	G	A	G42930635A	SLC2A1	NM_006516.3(SLC2A1):c.507C>T:p.Leu169=	coding	Benign/Likely_benign
1	42930649	C	T	C42930649T	SLC2A1	NM_006516.3(SLC2A1):c.493G>A:p.Val165Ile	coding	Pathogenic
1	42930661	G	A	G42930661A	SLC2A1	NM_006516.3(SLC2A1):c.481C>T:p.Gln161Ter	coding	Pathogenic
1	42930684	C	A	C42930684A	SLC2A1	NM_006516.3(SLC2A1):c.458G>T:p.Arg153Leu	coding	Pathogenic/Likely_pathogenic
1	42930684	C	G	C42930684G	SLC2A1	NM_006516.3(SLC2A1):c.458G>C:p.Arg153Pro	coding	Pathogenic
1	42930724	C	T	C42930724T	SLC2A1	NM_006516.3(SLC2A1):c.418G>A:p.Val140Met	coding	Pathogenic
1	42930725	G	A	G42930725A	SLC2A1	NM_006516.3(SLC2A1):c.417C>T:p.Phe139=	coding	Benign
1	42930742	C	T	C42930742T	SLC2A1	NM_006516.3(SLC2A1):c.400G>A:p.Gly134Ser	coding	Pathogenic/Likely_pathogenic
1	42930743	G	A	G42930743A	SLC2A1	NM_006516.3(SLC2A1):c.399C>T:p.Cys133=	coding	Benign
1	42930754	C	G	C42930754G	SLC2A1	NM_006516.3(SLC2A1):c.388G>C:p.Gly130Arg	coding	Pathogenic
1	42930754	C	T	C42930754T	SLC2A1	NM_006516.3(SLC2A1):c.388G>A:p.Gly130Ser	coding	Pathogenic
1	42930765	C	A	C42930765A	SLC2A1	NM_006516.3(SLC2A1):c.377G>T:p.Arg126Leu	coding	Pathogenic
1	42930765	C	T	C42930765T	SLC2A1	NM_006516.3(SLC2A1):c.377G>A:p.Arg126His	coding	Pathogenic/Likely_pathogenic
1	42930766	G	A	G42930766A	SLC2A1	NM_006516.3(SLC2A1):c.376C>T:p.Arg126Cys	coding	Pathogenic/Likely_pathogenic
1	42930865	G	A	G42930865A	SLC2A1	NM_006516.3(SLC2A1):c.277C>T:p.Arg93Trp	coding	Pathogenic
1	42930875	G	A	G42930875A	SLC2A1	NM_006516.3(SLC2A1):c.276-9C>T	noncoding	Benign/Likely_benign
1	42930885	G	A	G42930885A	SLC2A1	NM_006516.3(SLC2A1):c.276-19C>T	noncoding	Benign
1	42931047	G	A	G42931047A	SLC2A1	NM_006516.3(SLC2A1):c.274C>T:p.Arg92Trp	coding	Pathogenic/Likely_pathogenic
1	42931049	C	T	C42931049T	SLC2A1	NM_006516.3(SLC2A1):c.272G>A:p.Gly91Asp	coding	Pathogenic
1	42943239	T	A	T42943239A	SLC2A1	NM_006516.3(SLC2A1):c.101A>T:p.Asn34Ile	coding	Pathogenic
1	42943239	T	C	T42943239C	SLC2A1	NM_006516.3(SLC2A1):c.101A>G:p.Asn34Ser	coding	Pathogenic
1	42943291	C	A	C42943291A	SLC2A1	NM_006516.3(SLC2A1):c.49G>T:p.Gly17Ter	coding	Pathogenic
1	42943295	G	A	G42943295A	SLC2A1	NM_006516.3(SLC2A1):c.45C>T:p.Ala15=	coding	Benign
1	42943313	C	T	C42943313T	SLC2A1	NM_006516.3(SLC2A1):c.27G>A:p.Thr9=	coding	Benign/Likely_benign
1	42943323	T	C	T42943323C	SLC2A1	NM_006516.3(SLC2A1):c.19-2A>G	noncoding	Pathogenic
1	42943333	C	T	C42943333T	SLC2A1	NM_006516.3(SLC2A1):c.19-12G>A	noncoding	Benign
1	42943508	G	T	G42943508T	SLC2A1	NM_006516.3(SLC2A1):c.19-187C>A	noncoding	Benign
1	42958331	C	G	C42958331G	SLC2A1	NM_006516.3(SLC2A1):c.18+303G>C	noncoding	Benign
1	42958380	A	G	A42958380G	SLC2A1	NM_006516.3(SLC2A1):c.18+254T>C	noncoding	Benign
1	42958632	A	C	A42958632C	SLC2A1	NM_006516.4(SLC2A1):c.18+2T>G	noncoding	Pathogenic
1	42958633	C	T	C42958633T	SLC2A1	NM_006516.3(SLC2A1):c.18+1G>A	noncoding	Pathogenic
1	42958650	A	G	A42958650G	SLC2A1	NM_006516.3(SLC2A1):c.2T>C:p.Met1Thr	coding	Pathogenic
1	42958677	C	G	C42958677G	SLC2A1	NM_006516.3(SLC2A1):c.-26G>C	noncoding	Benign
1	42958841	C	G	C42958841G	SLC2A1	NM_006516.3(SLC2A1):c.-190G>C	noncoding	Benign
1	42958848	T	G	T42958848G	SLC2A1	NM_006516.3(SLC2A1):c.-197A>C	noncoding	Benign
1	42959141	C	G	C42959141G	SLC2A1	NM_006516.2(SLC2A1):c.-490G>C	noncoding	Benign
1	43164644	T	A	T43164644A	EBNA1BP2	NM_001159936.1(EBNA1BP2):c.1034A>T:p.Asn345Ile	coding	Benign
1	43171575	G	C	G43171575C	EBNA1BP2	NM_001159936.1(EBNA1BP2):c.392C>G:p.Pro131Arg	coding	Benign
1	43305342	C	T	C43305342T	TIE1	NM_005424.5(TIE1):c.483C>T:p.Asn161=	coding	Benign
1	43306994	G	A	G43306994A	TIE1	NM_005424.5(TIE1):c.639G>A:p.Arg213=	coding	Benign
1	43307215	C	T	C43307215T	TIE1	NM_005424.5(TIE1):c.714C>T:p.His238=	coding	Benign
1	43313863	C	T	C43313863T	TIE1	NM_005424.5(TIE1):c.2304C>T:p.Ser768=	coding	Benign
1	43337929	T	A	T43337929A	MPL	NM_005373.3(MPL):c.79+2T>A	noncoding	Pathogenic/Likely_pathogenic
1	43338136	G	T	G43338136T	MPL	NM_005373.2(MPL):c.117G>T:p.Lys39Asn	coding	Benign/Likely_benign
1	43338146	C	T	C43338146T	MPL	NM_005373.2(MPL):c.127C>T:p.Arg43Ter	coding	Pathogenic
1	43338229	G	A	G43338229A	MPL	NM_005373.2(MPL):c.210G>A:p.Pro70=	coding	Benign/Likely_benign
1	43338597	C	T	C43338597T	MPL	NM_005373.3(MPL):c.268C>T:p.Arg90Ter	coding	Pathogenic
1	43338633	C	T	C43338633T	MPL	NM_005373.2(MPL):c.304C>T:p.Arg102Cys	coding	Pathogenic
1	43338634	G	C	G43338634C	MPL	NM_005373.2(MPL):c.305G>C:p.Arg102Pro	coding	Pathogenic
1	43338646	C	T	C43338646T	MPL	NM_005373.2(MPL):c.317C>T:p.Pro106Leu	coding	Pathogenic/Likely_pathogenic
1	43338669	G	A	G43338669A	MPL	NM_005373.2(MPL):c.340G>A:p.Val114Met	coding	Benign/Likely_benign
1	43339422	T	C	T43339422C	MPL	NM_005373.2(MPL):c.543T>C:p.Gly181=	coding	Benign/Likely_benign
1	43339435	C	T	C43339435T	MPL	NM_005373.2(MPL):c.556C>T:p.Gln186Ter	coding	Pathogenic
1	43339569	A	G	A43339569G	MPL	NM_005373.2(MPL):c.690A>G:p.Glu230=	coding	Benign
1	43340042	C	T	C43340042T	MPL	NM_005373.2(MPL):c.769C>T:p.Arg257Cys	coding	Pathogenic
1	43340066	C	T	C43340066T	MPL	NM_005373.2(MPL):c.793C>T:p.Leu265Phe	coding	Benign
1	43340096	C	A	C43340096A	MPL	NM_005373.2(MPL):c.823C>A:p.Pro275Thr	coding	Pathogenic
1	43340495	G	A	G43340495A	MPL	NM_005373.2(MPL):c.962G>A:p.Arg321Gln	coding	Benign/Likely_benign
1	43346404	G	A	G43346404A	MPL	NM_005373.2(MPL):c.981-41G>A	noncoding	Benign
1	43346533	C	T	C43346533T	MPL	NM_005373.2(MPL):c.1069C>T:p.Arg357Ter	coding	Pathogenic
1	43346584	A	G	A43346584G	MPL	NM_005373.2(MPL):c.1120A>G:p.Thr374Ala	coding	Benign/Likely_benign
1	43346820	G	A	G43346820A	MPL	NM_005373.2(MPL):c.1194G>A:p.Trp398Ter	coding	Pathogenic
1	43346873	G	A	G43346873A	MPL	NM_005373.3(MPL):c.1247G>A:p.Trp416Ter	coding	Pathogenic
1	43346896	C	T	C43346896T	MPL	NM_005373.3(MPL):c.1270C>T:p.Gln424Ter	coding	Pathogenic
1	43348833	C	T	C43348833T	MPL	NM_005373.2(MPL):c.1309-10C>T	noncoding	Benign/Likely_benign
1	43348882	G	T	G43348882T	MPL	NM_005373.3(MPL):c.1348G>T:p.Glu450Ter	coding	Pathogenic
1	43348996	G	T	G43348996T	MPL	NM_005373.2(MPL):c.1462G>T:p.Glu488Ter	coding	Pathogenic
1	43349004	T	C	T43349004C	MPL	NM_005373.2(MPL):c.1468+2T>C	noncoding	Pathogenic
1	43349267	G	A	G43349267A	MPL	NM_005373.2(MPL):c.1473G>A:p.Trp491Ter	coding	Pathogenic
1	43349308	G	A	G43349308A	MPL	NM_005373.2(MPL):c.1514G>A:p.Ser505Asn	coding	Pathogenic/Likely_pathogenic
1	43349338	G	T	G43349338T	MPL	NM_005373.2(MPL):c.1544G>T:p.Trp515Leu	coding	Pathogenic
1	43352215	G	T	G43352215T	MPL	NM_005373.3(MPL):c.1566-1G>T	noncoding	Pathogenic
1	43352306	G	A	G43352306A	MPL	NM_005373.2(MPL):c.1653+3G>A	noncoding	Benign/Likely_benign
1	43352508	T	A	T43352508A	MPL	NM_005373.2(MPL):c.1654-10T>A	noncoding	Benign/Likely_benign
1	43352658	C	T	C43352658T	MPL	NM_005373.2(MPL):c.1794C>T:p.Cys598=	coding	Benign/Likely_benign
1	43352768	C	T	C43352768T	MPL	NM_005373.2(MPL):c.1904C>T:p.Pro635Leu	coding	Pathogenic
1	43353952	G	A	G43353952A	MPL	NM_005373.2(MPL):c.*1180G>A	noncoding	Benign/Likely_benign
1	43353992	C	T	C43353992T	MPL	NM_005373.3(MPL):c.*1220C>T	noncoding	Benign
1	43354375	A	C	A43354375C	MPL	NM_005373.2(MPL):c.*1603A>C	noncoding	Benign/Likely_benign
1	43361123	G	A	G43361123A	CDC20	NM_001255.3(CDC20):c.1081G>A:p.Val361Ile	coding	Benign
1	43363081	G	A	G43363081A	CDC20	NM_001255.3(CDC20):c.1452G>A:p.Glu484=	coding	Benign
1	43364448	G	A	G43364448A	ELOVL1	NM_022821.4(ELOVL1):c.494C>T:p.Ser165Phe	coding	Pathogenic
1	43403222	C	T	C43403222T	SZT2	NM_001365999.1(SZT2):c.73C>T:p.Arg25Ter	coding	Pathogenic
1	43403254	C	G	C43403254G	SZT2	NM_001365999.1(SZT2):c.105C>G:p.Phe35Leu	coding	Pathogenic
1	43404400	C	A	C43404400A	SZT2	NM_001365999.1(SZT2):c.348C>A:p.Ile116=	coding	Benign
1	43415193	C	T	C43415193T	SZT2	NM_001365999.1(SZT2):c.610C>T:p.Gln204Ter	coding	Pathogenic
1	43416088	G	A	G43416088A	SZT2	NM_001365999.1(SZT2):c.759G>A:p.Ser253=	coding	Benign/Likely_benign
1	43416542	C	T	C43416542T	SZT2	NM_001365999.1(SZT2):c.780C>T:p.Ile260=	coding	Benign
1	43419733	G	C	G43419733C	SZT2	NM_001365999.1(SZT2):c.880-1G>C	noncoding	Pathogenic
1	43420823	C	T	C43420823T	SZT2	NM_001365999.1(SZT2):c.1336C>T:p.Pro446Ser	coding	Benign
1	43420983	G	T	G43420983T	SZT2	NM_001365999.1(SZT2):c.1496G>T:p.Ser499Ile	coding	Pathogenic
1	43421261	C	T	C43421261T	SZT2	NM_001365999.1(SZT2):c.1584C>T:p.Ser528=	coding	Benign
1	43423153	C	T	C43423153T	SZT2	NM_001365999.1(SZT2):c.2092C>T:p.Gln698Ter	coding	Pathogenic
1	43424324	C	G	C43424324G	SZT2	NM_001365999.1(SZT2):c.2363C>G:p.Ser788Ter	coding	Pathogenic
1	43424867	G	A	G43424867A	SZT2	NM_001365999.1(SZT2):c.2550+5G>A	noncoding	Benign/Likely_benign
1	43424867	G	T	G43424867T	SZT2	NM_001365999.1(SZT2):c.2550+5G>T	noncoding	Benign
1	43425140	G	A	G43425140A	SZT2	NM_001365999.1(SZT2):c.2578G>A:p.Glu860Lys	coding	Benign
1	43425193	C	T	C43425193T	SZT2	NM_001365999.1(SZT2):c.2631C>T:p.Thr877=	coding	Benign/Likely_benign
1	43425958	G	A	G43425958A	SZT2	NM_001365999.1(SZT2):c.2929+9G>A	noncoding	Benign
1	43426063	C	T	C43426063T	SZT2	NM_001365999.1(SZT2):c.2955C>T:p.Cys985=	coding	Benign/Likely_benign
1	43426767	C	T	C43426767T	SZT2	NM_001365999.1(SZT2):c.3267C>T:p.Val1089=	coding	Benign/Likely_benign
1	43427316	C	T	C43427316T	SZT2	NM_001365999.1(SZT2):c.3469C>T:p.Pro1157Ser	coding	Benign
1	43427417	C	T	C43427417T	SZT2	NM_001365999.1(SZT2):c.3570C>T:p.Val1190=	coding	Benign
1	43427429	T	C	T43427429C	SZT2	NM_001365999.1(SZT2):c.3582T>C:p.Ser1194=	coding	Benign
1	43428297	C	T	C43428297T	SZT2	NM_001365999.1(SZT2):c.3977C>T:p.Ala1326Val	coding	Pathogenic
1	43428371	T	C	T43428371C	SZT2	NM_001365999.1(SZT2):c.4051T>C:p.Trp1351Arg	coding	Benign
1	43429712	C	T	C43429712T	SZT2	NM_001365999.1(SZT2):c.4176C>T:p.Thr1392=	coding	Benign/Likely_benign
1	43430098	C	T	C43430098T	SZT2	NM_001365999.1(SZT2):c.4396C>T:p.Arg1466Ter	coding	Pathogenic
1	43430546	G	A	G43430546A	SZT2	NM_001365999.1(SZT2):c.4531G>A:p.Val1511Ile	coding	Benign/Likely_benign
1	43430716	G	A	G43430716A	SZT2	NM_001365999.1(SZT2):c.4701G>A:p.Leu1567=	coding	Benign/Likely_benign
1	43431331	T	C	T43431331C	SZT2	NM_001365999.1(SZT2):c.4983T>C:p.Asp1661=	coding	Benign/Likely_benign
1	43431510	C	T	C43431510T	SZT2	NM_001365999.1(SZT2):c.5075C>T:p.Thr1692Ile	coding	Benign/Likely_benign
1	43431773	C	T	C43431773T	SZT2	NM_001365999.1(SZT2):c.5146C>T:p.Gln1716Ter	coding	Pathogenic
1	43431825	G	A	G43431825A	SZT2	NM_001365999.1(SZT2):c.5198G>A:p.Arg1733His	coding	Benign
1	43432382	T	G	T43432382G	SZT2	NM_001365999.1(SZT2):c.5385T>G:p.Ser1795=	coding	Benign
1	43432591	C	T	C43432591T	SZT2	NM_001365999.1(SZT2):c.5517C>T:p.Arg1839=	coding	Benign/Likely_benign
1	43432732	T	G	T43432732G	SZT2	NM_001365999.1(SZT2):c.5535T>G:p.Ser1845Arg	coding	Benign
1	43434453	C	T	C43434453T	SZT2	NM_001365999.1(SZT2):c.5872C>T:p.Arg1958Ter	coding	Pathogenic/Likely_pathogenic
1	43435233	G	A	G43435233A	SZT2	NM_001365999.1(SZT2):c.5938G>A:p.Val1980Met	coding	Pathogenic
1	43435340	A	C	A43435340C	SZT2	NM_001365999.1(SZT2):c.6034+11A>C	noncoding	Benign
1	43437918	G	T	G43437918T	SZT2	NM_001365999.1(SZT2):c.6508+16G>T	noncoding	Benign
1	43438733	A	G	A43438733G	SZT2	NM_001365999.1(SZT2):c.6543A>G:p.Leu2181=	coding	Benign/Likely_benign
1	43438763	C	T	C43438763T	SZT2	NM_001365999.1(SZT2):c.6573C>T:p.Asp2191=	coding	Benign/Likely_benign
1	43439615	C	T	C43439615T	SZT2	NM_001365999.1(SZT2):c.6888C>T:p.Cys2296=	coding	Benign
1	43439950	A	T	A43439950T	SZT2	NM_001365999.1(SZT2):c.7112A>T:p.Glu2371Val	coding	Pathogenic
1	43439987	C	T	C43439987T	SZT2	NM_001365999.1(SZT2):c.7149C>T:p.Ala2383=	coding	Benign/Likely_benign
1	43440440	C	G	C43440440G	SZT2	NM_001365999.1(SZT2):c.7211-13C>G	noncoding	Benign
1	43440487	C	T	C43440487T	SZT2	NM_001365999.1(SZT2):c.7245C>T:p.Ser2415=	coding	Benign
1	43440498	G	A	G43440498A	SZT2	NM_001365999.1(SZT2):c.7256G>A:p.Arg2419Gln	coding	Benign/Likely_benign
1	43440595	A	G	A43440595G	SZT2	NM_001365999.1(SZT2):c.7344+9A>G	noncoding	Benign
1	43441225	A	G	A43441225G	SZT2	NM_001365999.1(SZT2):c.7356A>G:p.Glu2452=	coding	Benign
1	43441264	T	C	T43441264C	SZT2	NM_001365999.1(SZT2):c.7395T>C:p.Ile2465=	coding	Benign/Likely_benign
1	43441501	C	T	C43441501T	SZT2	NM_001365999.1(SZT2):c.7512-3C>T	noncoding	Benign
1	43441554	T	C	T43441554C	SZT2	NM_001365999.1(SZT2):c.7562T>C:p.Val2521Ala	coding	Benign/Likely_benign
1	43441565	G	A	G43441565A	SZT2	NM_001365999.1(SZT2):c.7573G>A:p.Val2525Ile	coding	Benign/Likely_benign
1	43441784	G	A	G43441784A	SZT2	NM_001365999.1(SZT2):c.7708G>A:p.Gly2570Arg	coding	Benign
1	43442069	T	A	T43442069A	SZT2	NM_001365999.1(SZT2):c.7812T>A:p.Ala2604=	coding	Benign
1	43442088	C	T	C43442088T	SZT2	NM_001365999.1(SZT2):c.7831C>T:p.Leu2611=	coding	Benign/Likely_benign
1	43442432	C	T	C43442432T	SZT2	NM_001365999.1(SZT2):c.7975-10C>T	noncoding	Benign
1	43442487	T	C	T43442487C	SZT2	NM_001365999.1(SZT2):c.8020T>C:p.Leu2674=	coding	Benign/Likely_benign
1	43442529	C	T	C43442529T	SZT2	NM_001365999.1(SZT2):c.8062C>T:p.Arg2688Ter	coding	Pathogenic
1	43442603	C	T	C43442603T	SZT2	NM_001365999.1(SZT2):c.8136C>T:p.Pro2712=	coding	Benign
1	43442607	C	T	C43442607T	SZT2	NM_001365999.1(SZT2):c.8140C>T:p.Arg2714Ter	coding	Pathogenic
1	43442844	C	G	C43442844G	SZT2	NM_001365999.1(SZT2):c.8177C>G:p.Thr2726Ser	coding	Benign/Likely_benign
1	43442986	T	G	T43442986G	SZT2	NM_001365999.1(SZT2):c.8319T>G:p.Ala2773=	coding	Benign
1	43443275	A	C	A43443275C	SZT2	NM_001365999.1(SZT2):c.8499+8A>C	noncoding	Benign
1	43443594	T	C	T43443594C	SZT2	NM_001365999.1(SZT2):c.8626-3T>C	noncoding	Benign
1	43443630	C	T	C43443630T	SZT2	NM_001365999.1(SZT2):c.8659C>T:p.Arg2887Ter	coding	Pathogenic
1	43443774	C	T	C43443774T	SZT2	NM_001365999.1(SZT2):c.8803C>T:p.Arg2935Trp	coding	Pathogenic
1	43445892	A	G	A43445892G	SZT2	NM_001365999.1(SZT2):c.8826-2A>G	noncoding	Pathogenic
1	43445978	C	T	C43445978T	SZT2	NM_001365999.1(SZT2):c.8910C>T:p.Ser2970=	coding	Benign
1	43446201	C	T	C43446201T	SZT2	NM_001365999.1(SZT2):c.8939C>T:p.Thr2980Ile	coding	Pathogenic
1	43446257	C	T	C43446257T	SZT2	NM_001365999.1(SZT2):c.8995C>T:p.Gln2999Ter	coding	Pathogenic
1	43447550	T	C	T43447550C	SZT2	NM_001365999.1(SZT2):c.9292T>C:p.Leu3098=	coding	Benign/Likely_benign
1	43447837	C	T	C43447837T	SZT2	NM_001365999.1(SZT2):c.9441-12C>T	noncoding	Benign
1	43447886	C	T	C43447886T	SZT2	NM_001365999.1(SZT2):c.9478C>T:p.Gln3160Ter	coding	Pathogenic
1	43448238	G	A	G43448238A	SZT2	NM_001365999.1(SZT2):c.9723G>A:p.Ala3241=	coding	Benign/Likely_benign
1	43448297	G	A	G43448297A	SZT2	NM_001365999.1(SZT2):c.9782G>A:p.Arg3261Gln	coding	Benign/Likely_benign
1	43448389	C	T	C43448389T	SZT2	NM_001365999.1(SZT2):c.9874C>T:p.Arg3292Ter	coding	Pathogenic
1	43448398	C	T	C43448398T	SZT2	NM_001365999.1(SZT2):c.9883C>T:p.Leu3295=	coding	Benign/Likely_benign
1	43448641	G	A	G43448641A	SZT2	NM_001365999.1(SZT2):c.9999G>A:p.Trp3333Ter	coding	Pathogenic
1	43451427	C	G	C43451427G	HYI	NM_001365999.1(SZT2):c.*947C>G	coding	Benign
1	43553634	C	T	C43553634T	PTPRF	NM_002840.5(PTPRF):c.234C>T:p.Phe78=	coding	Benign
1	43553642	G	A	G43553642A	PTPRF	NM_002840.5(PTPRF):c.237+5G>A	noncoding	Benign
1	43578904	G	A	G43578904A	PTPRF	NM_002840.5(PTPRF):c.663G>A:p.Ala221=	coding	Benign
1	43591135	C	T	C43591135T	PTPRF	NM_002840.5(PTPRF):c.1113C>T:p.Thr371=	coding	Benign
1	43591562	G	A	G43591562A	PTPRF	NM_002840.5(PTPRF):c.1531+9G>A	noncoding	Benign
1	43591957	C	T	C43591957T	PTPRF	NM_002840.5(PTPRF):c.1668+9C>T	noncoding	Benign
1	43591958	G	C	G43591958C	PTPRF	NM_002840.5(PTPRF):c.1668+10G>C	noncoding	Benign
1	43597837	C	T	C43597837T	PTPRF	NM_002840.5(PTPRF):c.1903C>T:p.Arg635Cys	coding	Benign
1	43603678	A	G	A43603678G	PTPRF	NM_002840.5(PTPRF):c.2526A>G:p.Pro842=	coding	Benign
1	43603977	C	T	C43603977T	PTPRF	NM_002840.5(PTPRF):c.2825C>T:p.Ala942Val	coding	Benign
1	43609401	G	A	G43609401A	PTPRF	NM_002840.5(PTPRF):c.3876G>A:p.Pro1292=	coding	Benign
1	43613609	C	T	C43613609T	PTPRF	NM_002840.5(PTPRF):c.3974-9C>T	noncoding	Benign
1	43619095	C	T	C43619095T	PTPRF	NM_002840.5(PTPRF):c.4539C>T:p.Ala1513=	coding	Benign
1	43619462	T	C	T43619462C	PTPRF	NM_002840.5(PTPRF):c.4821T>C:p.Ala1607=	coding	Benign
1	43619724	C	T	C43619724T	PTPRF	NM_002840.5(PTPRF):c.4977C>T:p.Ala1659=	coding	Benign
1	43620119	A	C	A43620119C	PTPRF	NM_002840.5(PTPRF):c.5136A>C:p.Thr1712=	coding	Benign
1	43653205	C	T	C43653205T	KDM4A	NM_014663.3(KDM4A):c.30C>T:p.Pro10=	coding	Benign
1	43653223	C	A	C43653223A	KDM4A	NM_014663.3(KDM4A):c.48C>A:p.Thr16=	coding	Benign
1	43655680	G	T	G43655680T	KDM4A	NM_014663.3(KDM4A):c.228G>T:p.Thr76=	coding	Benign
1	43667976	A	G	A43667976G	KDM4A	NM_014663.3(KDM4A):c.1120A>G:p.Met374Val	coding	Benign
1	43671620	G	A	G43671620A	KDM4A	NM_014663.3(KDM4A):c.1479G>A:p.Ala493=	coding	Benign
1	43703746	G	A	G43703746A	KDM4A	NM_014663.3(KDM4A):c.2961+10G>A	noncoding	Benign
1	43736300	C	A	C43736300A	ST3GAL3	NM_006279.5(ST3GAL3):c.38C>A:p.Ala13Asp	coding	Pathogenic
1	43824858	A	G	A43824858G	ST3GAL3	NM_006279.5(ST3GAL3):c.209+9925A>G	coding	Benign
1	43898228	T	C	T43898228C	ST3GAL3	NM_006279.5(ST3GAL3):c.398-7T>C	noncoding	Benign
1	43899619	C	T	C43899619T	ST3GAL3	NM_006279.5(ST3GAL3):c.636C>T:p.Gly212=	coding	Benign/Likely_benign
1	43920412	G	A	G43920412A	ST3GAL3	NM_006279.5(ST3GAL3):c.753G>A:p.Ser251=	coding	Benign
1	43920481	A	G	A43920481G	ST3GAL3	NM_006279.5(ST3GAL3):c.822A>G:p.Pro274=	coding	Benign
1	43920773	G	A	G43920773A	ST3GAL3	NM_006279.5(ST3GAL3):c.892-9G>A	noncoding	Benign
1	43920848	G	C	G43920848C	ST3GAL3	NM_006279.5(ST3GAL3):c.958G>C:p.Ala320Pro	coding	Pathogenic
1	43920943	A	G	A43920943G	ST3GAL3	NM_006279.5(ST3GAL3):c.1038+15A>G	noncoding	Benign
1	43930114	C	T	C43930114T	ST3GAL3	NM_006279.5(ST3GAL3):c.1039-18C>T	noncoding	Benign
1	43930168	C	T	C43930168T	ST3GAL3	NM_006279.5(ST3GAL3):c.1075C>T:p.Leu359=	coding	Benign/Likely_benign
1	43930201	G	T	G43930201T	ST3GAL3	NM_006279.5(ST3GAL3):c.1108G>T:p.Asp370Tyr	coding	Pathogenic
1	43958811	A	G	A43958811G	IPO13	NM_014652.4(IPO13):c.1950A>G:p.Thr650=	coding	Benign
1	43967383	G	A	G43967383A	IPO13	NM_014652.4(IPO13):c.2682G>A:p.Lys894=	coding	Benign
1	43997581	A	G	A43997581G	SLC6A9	NM_001024845.3(SLC6A9):c.1866T>C:p.Ser622=	coding	Benign
1	43997921	G	A	G43997921A	SLC6A9	NM_001024845.3(SLC6A9):c.1641C>T:p.Ser547=	coding	Benign
1	43998031	C	T	C43998031T	SLC6A9	NM_001024845.3(SLC6A9):c.1537-6G>A	noncoding	Benign
1	44000805	G	A	G44000805A	SLC6A9	NM_001024845.3(SLC6A9):c.1498C>T:p.Gln500Ter	coding	Pathogenic
1	44001444	C	T	C44001444T	SLC6A9	NM_001024845.3(SLC6A9):c.1146G>A:p.Pro382=	coding	Benign
1	44001590	T	C	T44001590C	SLC6A9	NM_001024845.3(SLC6A9):c.1000A>G:p.Ser334Gly	coding	Pathogenic
1	44002315	G	A	G44002315A	SLC6A9	NM_001024845.3(SLC6A9):c.960C>T:p.Tyr320=	coding	Benign
1	44002538	G	A	G44002538A	SLC6A9	NM_001024845.3(SLC6A9):c.832C>T:p.Gln278Ter	coding	Pathogenic
1	44002871	C	G	C44002871G	SLC6A9	NM_001024845.3(SLC6A9):c.705G>C:p.Gly235=	coding	Benign
1	44002922	A	G	A44002922G	SLC6A9	NM_001024845.3(SLC6A9):c.654T>C:p.Leu218=	coding	Benign
1	44008471	C	T	C44008471T	SLC6A9	NM_001024845.3(SLC6A9):c.472G>A:p.Gly158Ser	coding	Benign
1	44011579	G	C	G44011579C	SLC6A9	NM_001024845.3(SLC6A9):c.31-697C>G	coding	Benign
1	44701011	C	T	C44701011T	ARMH1	NM_001145636.2(ARMH1):c.531C>T:p.His177=	coding	Benign
1	44724145	G	A	G44724145A	ARMH1	NM_001145636.2(ARMH1):c.748G>A:p.Val250Ile	coding	Benign
1	44777639	C	T	C44777639T	RPS8	NM_001012.2(RPS8):c.237C>T:p.Ile79=	coding	Benign
1	44787454	G	C	G44787454C	BEST4	NM_153274.3(BEST4):c.165C>G:p.Thr55=	coding	Benign
1	44801630	C	A	C44801630A	PLK3	NM_004073.4(PLK3):c.444C>A:p.Ala148=	coding	Benign
1	44801723	C	T	C44801723T	PLK3	NM_004073.4(PLK3):c.537C>T:p.Arg179=	coding	Benign
1	44803006	G	A	G44803006A	PLK3	NM_004073.4(PLK3):c.801G>A:p.Glu267=	coding	Benign
1	44803057	A	G	A44803057G	PLK3	NM_004073.4(PLK3):c.852A>G:p.Ser284=	coding	Benign
1	44803264	C	T	C44803264T	PLK3	NM_004073.4(PLK3):c.949-4C>T	noncoding	Benign
1	44803676	G	A	G44803676A	PLK3	NM_004073.4(PLK3):c.1149G>A:p.Gln383=	coding	Benign
1	44804484	C	T	C44804484T	PLK3	NM_004073.4(PLK3):c.1488C>T:p.Ala496=	coding	Benign
1	44822438	C	T	C44822438T	PTCH2	NM_003738.5(PTCH2):c.3589G>A:p.Gly1197Arg	coding	Benign
1	44822664	T	C	T44822664C	PTCH2	NM_003738.5(PTCH2):c.3363A>G:p.Ile1121Met	coding	Benign
1	44823064	G	A	G44823064A	PTCH2	NM_003738.5(PTCH2):c.3357+5C>T	noncoding	Pathogenic
1	44823284	A	G	A44823284G	PTCH2	NM_003738.5(PTCH2):c.3216T>C:p.Gly1072=	coding	Benign
1	44826501	G	A	G44826501A	PTCH2	NM_003738.5(PTCH2):c.2963C>T:p.Thr988Met	coding	Benign
1	44826894	A	G	A44826894G	PTCH2	NM_003738.5(PTCH2):c.2695+8T>C	noncoding	Benign
1	44827032	G	A	G44827032A	PTCH2	NM_003738.5(PTCH2):c.2565C>T:p.Leu855=	coding	Benign
1	44827038	G	A	G44827038A	PTCH2	NM_003738.5(PTCH2):c.2559C>T:p.Pro853=	coding	Benign
1	44827254	C	G	C44827254G	PTCH2	NM_003738.5(PTCH2):c.2427G>C:p.Ser809=	coding	Benign
1	44827418	G	A	G44827418A	PTCH2	NM_003738.5(PTCH2):c.2355C>T:p.Tyr785=	coding	Benign
1	44827525	C	T	C44827525T	PTCH2	NM_003738.5(PTCH2):c.2248G>A:p.Ala750Thr	coding	Benign
1	44827617	C	T	C44827617T	PTCH2	NM_003738.5(PTCH2):c.2156G>A:p.Arg719Gln	coding	Pathogenic
1	44827631	C	T	C44827631T	PTCH2	NM_003738.5(PTCH2):c.2142G>A:p.Thr714=	coding	Benign
1	44827646	G	A	G44827646A	PTCH2	NM_003738.5(PTCH2):c.2127C>T:p.Asp709=	coding	Benign
1	44827888	G	A	G44827888A	PTCH2	NM_003738.5(PTCH2):c.2013C>T:p.Phe671=	coding	Benign
1	44828037	G	A	G44828037A	PTCH2	NM_003738.5(PTCH2):c.1864C>T:p.His622Tyr	coding	Benign
1	44828037	G	T	G44828037T	PTCH2	NM_003738.5(PTCH2):c.1864C>A:p.His622Asn	coding	Benign/Likely_benign
1	44828394	G	A	G44828394A	PTCH2	NM_003738.5(PTCH2):c.1611C>T:p.Cys537=	coding	Benign
1	44828409	G	A	G44828409A	PTCH2	NM_003738.5(PTCH2):c.1596C>T:p.Ala532=	coding	Benign
1	44828412	C	T	C44828412T	PTCH2	NM_003738.5(PTCH2):c.1593G>A:p.Ala531=	coding	Benign
1	44828527	C	T	C44828527T	PTCH2	NM_003738.5(PTCH2):c.1569G>A:p.Ala523=	coding	Benign
1	44828563	G	A	G44828563A	PTCH2	NM_003738.5(PTCH2):c.1533C>T:p.Ala511=	coding	Benign
1	44828590	G	A	G44828590A	PTCH2	NM_003738.5(PTCH2):c.1506C>T:p.Val502=	coding	Benign
1	44828590	G	C	G44828590C	PTCH2	NM_003738.5(PTCH2):c.1506C>G:p.Val502=	coding	Benign
1	44829021	C	T	C44829021T	PTCH2	NM_003738.5(PTCH2):c.1425G>A:p.Ala475=	coding	Benign
1	44829149	T	C	T44829149C	PTCH2	NM_003738.5(PTCH2):c.1371+8A>G	noncoding	Benign
1	44829611	G	A	G44829611A	PTCH2	NM_003738.5(PTCH2):c.1083+3C>T	noncoding	Benign
1	44829617	C	A	C44829617A	PTCH2	NM_003738.5(PTCH2):c.1080G>T:p.Val360=	coding	Benign
1	44829624	C	T	C44829624T	PTCH2	NM_003738.5(PTCH2):c.1073G>A:p.Arg358His	coding	Benign
1	44829643	G	A	G44829643A	PTCH2	NM_003738.5(PTCH2):c.1054C>T:p.Leu352=	coding	Benign
1	44829752	G	A	G44829752A	PTCH2	NM_003738.5(PTCH2):c.945C>T:p.Ala315=	coding	Benign
1	44830004	A	G	A44830004G	PTCH2	NM_003738.5(PTCH2):c.840T>C:p.Ser280=	coding	Benign
1	44830974	G	A	G44830974A	PTCH2	NM_003738.5(PTCH2):c.687C>T:p.Ala229=	coding	Benign
1	44831039	G	A	G44831039A	PTCH2	NM_003738.5(PTCH2):c.622C>T:p.Arg208Cys	coding	Benign
1	44841922	A	G	A44841922G	PTCH2	NM_003738.5(PTCH2):c.190T>C:p.Leu64=	coding	Benign
1	44842022	C	T	C44842022T	PTCH2	NM_003738.5(PTCH2):c.90G>A:p.Leu30=	coding	Benign
1	44842889	G	A	G44842889A	PTCH2	NM_003738.5(PTCH2):c.44C>T:p.Thr15Ile	coding	Benign
1	44874670	A	C	A44874670C	EIF2B3	NM_020365.5(EIF2B3):c.1202+8T>G	coding	Benign/Likely_benign
1	44875634	A	G	A44875634G	EIF2B3	NM_020365.5(EIF2B3):c.1037T>C:p.Ile346Thr	coding	Pathogenic
1	44879774	T	A	T44879774A	EIF2B3	NM_020365.5(EIF2B3):c.975+44A>T	noncoding	Benign
1	44879809	T	C	T44879809C	EIF2B3	NM_020365.5(EIF2B3):c.975+9A>G	noncoding	Benign/Likely_benign
1	44881722	C	T	C44881722T	EIF2B3	NM_020365.5(EIF2B3):c.674G>A:p.Arg225Gln	coding	Pathogenic
1	44897320	T	C	T44897320C	EIF2B3	NM_020365.5(EIF2B3):c.656+35A>G	noncoding	Benign
1	44897378	G	A	G44897378A	EIF2B3	NM_020365.5(EIF2B3):c.633C>T:p.Ile211=	coding	Benign/Likely_benign
1	44941521	C	G	C44941521G	EIF2B3	NM_020365.5(EIF2B3):c.439G>C:p.Gly147Arg	coding	Benign
1	44978366	G	A	G44978366A	EIF2B3	NM_020365.5(EIF2B3):c.243C>T:p.Asp81=	coding	Benign
1	44978420	T	A	T44978420A	EIF2B3	NM_020365.5(EIF2B3):c.189A>T:p.Leu63=	coding	Benign/Likely_benign
1	44978464	T	C	T44978464C	EIF2B3	NM_020365.5(EIF2B3):c.149-4A>G	noncoding	Benign/Likely_benign
1	44981089	A	T	A44981089T	EIF2B3	NM_020365.5(EIF2B3):c.80T>A:p.Leu27Gln	coding	Pathogenic
1	44986555	G	C	G44986555C	EIF2B3	NM_020365.5(EIF2B3):c.-72C>G	noncoding	Benign
1	44986664	T	A	T44986664A	EIF2B3	NM_001166588.2(EIF2B3):c.-181A>T	noncoding	Benign
1	45006112	T	C	T45006112C	HECTD3	NM_024602.6(HECTD3):c.1730A>G:p.Asn577Ser	coding	Benign
1	45006731	G	A	G45006731A	HECTD3	NM_024602.6(HECTD3):c.1686C>T:p.Thr562=	coding	Benign
1	45010209	T	C	T45010209C	HECTD3	NM_024602.6(HECTD3):c.615A>G:p.Gln205=	coding	Benign
1	45012906	G	C	G45012906C	UROD	NM_000374.5(UROD):c.21-1G>C	coding	Pathogenic
1	45013187	C	T	C45013187T	UROD	NM_000374.5(UROD):c.185C>T:p.Pro62Leu	coding	Pathogenic
1	45013663	C	T	C45013663T	UROD	NM_000374.5(UROD):c.346C>T:p.Gln116Ter	coding	Pathogenic
1	45013767	G	A	G45013767A	UROD	NM_000374.5(UROD):c.450G>A:p.Pro150=	coding	Benign/Likely_benign
1	45013928	T	G	T45013928G	UROD	NM_000374.5(UROD):c.494T>G:p.Met165Arg	coding	Pathogenic
1	45013933	G	A	G45013933A	UROD	NM_000374.5(UROD):c.499G>A:p.Glu167Lys	coding	Pathogenic
1	45014012	G	C	G45014012C	UROD	NM_000374.5(UROD):c.578G>C:p.Arg193Pro	coding	Pathogenic
1	45014017	C	T	C45014017T	UROD	NM_000374.5(UROD):c.583C>T:p.Leu195Phe	coding	Pathogenic
1	45014037	A	G	A45014037G	UROD	NM_000374.5(UROD):c.603A>G:p.Pro201=	coding	Benign
1	45014071	G	C	G45014071C	UROD	NM_000374.5(UROD):c.636+1G>C	coding	Pathogenic
1	45014803	G	A	G45014803A	UROD	NM_000374.5(UROD):c.842G>A:p.Gly281Glu	coding	Pathogenic
1	45014803	G	T	G45014803T	UROD	NM_000374.5(UROD):c.842G>T:p.Gly281Val	coding	Pathogenic
1	45014835	C	G	C45014835G	UROD	NM_000374.5(UROD):c.874C>G:p.Arg292Gly	coding	Pathogenic
1	45014968	C	T	C45014968T	UROD	NM_000374.5(UROD):c.904C>T:p.Gln302Ter	coding	Pathogenic
1	45014976	C	A	C45014976A	UROD	NM_000374.5(UROD):c.912C>A:p.Asn304Lys	coding	Pathogenic
1	45015006	G	A	G45015006A	UROD	NM_000374.5(UROD):c.942G>A:p.Glu314=	coding	Pathogenic
1	45015389	G	A	G45015389A	UROD	NM_000374.5(UROD):c.995G>A:p.Arg332His	coding	Pathogenic
1	45058639	C	T	C45058639T	ZSWIM5	NM_020883.2(ZSWIM5):c.1222G>A:p.Asp408Asn	coding	Benign
1	45327297	G	A	G45327297A	HPDL	NM_032756.3:c.149G>A	coding	Pathogenic
1	45327617	T	C	T45327617C	HPDL	W157R	coding	Pathogenic
1	45327651	G	A	G45327651A	HPDL	NM_032756.3:c.503G>A	coding	Pathogenic
1	45327685	G	C	G45327685C	HPDL	NM_032756.3:c.537G>C	coding	Pathogenic
1	45327901	C	A	C45327901A	HPDL	H251Q	coding	Pathogenic
1	45327927	G	A	G45327927A	HPDL	NM_032756.3:c.779G>A	coding	Pathogenic
1	45328172	C	T	C45328172T	HPDL	NM_032756.3:c.1024C>T	coding	Pathogenic
1	45329355	C	T	C45329355T	MUTYH	NM_012222.2(MUTYH):c.1592G>A:p.Arg531Gln	coding	Benign/Likely_benign
1	45329371	G	T	G45329371T	MUTYH	NM_012222.2(MUTYH):c.1576C>A:p.Leu526Met	coding	Benign/Likely_benign
1	45329412	G	A	G45329412A	MUTYH	NM_012222.2(MUTYH):c.1535C>T:p.Ser512Phe	coding	Benign/Likely_benign
1	45330557	C	A	C45330557A	MUTYH	NM_001048171.1(MUTYH):c.1435G>T:p.Val479Phe	coding	Pathogenic/Likely_pathogenic
1	45330597	G	C	G45330597C	MUTYH	NM_012222.2(MUTYH):c.1468-40C>G	noncoding	Benign
1	45331184	T	A	T45331184A	MUTYH	NM_001128425.1(MUTYH):c.1474A>T:p.Lys492Ter	coding	Pathogenic
1	45331209	G	A	G45331209A	MUTYH	NM_012222.2(MUTYH):c.1440C>T:p.Thr480=	coding	Benign/Likely_benign
1	45331220	C	A	C45331220A	MUTYH	NM_001048174.2(MUTYH):c.1354G>T:p.Glu452Ter	coding	Pathogenic
1	45331223	C	A	C45331223A	MUTYH	NM_001128425.1(MUTYH):c.1435G>T:p.Glu479Ter	coding	Pathogenic/Likely_pathogenic
1	45331240	G	T	G45331240T	MUTYH	NM_001128425.1(MUTYH):c.1418C>A:p.Ala473Asp	coding	Pathogenic
1	45331299	A	C	A45331299C	MUTYH	NM_001048174.2(MUTYH):c.1275T>G:p.Tyr425Ter	coding	Pathogenic
1	45331453	G	A	G45331453A	MUTYH	NM_001128425.1(MUTYH):c.1290C>T:p.Pro430=	coding	Benign/Likely_benign
1	45331462	C	T	C45331462T	MUTYH	NM_001128425.1(MUTYH):c.1281G>A:p.Trp427Ter	coding	Pathogenic
1	45331476	C	A	C45331476A	MUTYH	NM_001128425.1(MUTYH):c.1267G>T:p.Glu423Ter	coding	Pathogenic
1	45331479	G	A	G45331479A	MUTYH	NM_001128425.1(MUTYH):c.1264C>T:p.Gln422Ter	coding	Pathogenic
1	45331502	T	C	T45331502C	MUTYH	NM_012222.2(MUTYH):c.1232A>G:p.Gln411Arg	coding	Pathogenic
1	45331503	G	A	G45331503A	MUTYH	NM_001128425.1(MUTYH):c.1240C>T:p.Gln414Ter	coding	Pathogenic
1	45331529	G	A	G45331529A	MUTYH	NM_001048171.1(MUTYH):c.1172C>T:p.Pro391Leu	coding	Pathogenic
1	45331530	G	A	G45331530A	MUTYH	NM_012222.2(MUTYH):c.1204C>T:p.Pro402Ser	coding	Pathogenic
1	45331556	C	T	C45331556T	MUTYH	NM_001048174.2(MUTYH):c.1103G>A:p.Gly368Asp	coding	Pathogenic/Likely_pathogenic
1	45331558	T	C	T45331558C	MUTYH	NM_001048174.2(MUTYH):c.1103-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	45331644	G	A	G45331644A	MUTYH	NM_001128425.1(MUTYH):c.1186+17C>T	noncoding	Benign/Likely_benign
1	45331660	C	T	C45331660T	MUTYH	NM_001128425.1(MUTYH):c.1186+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	45331676	G	A	G45331676A	MUTYH	NM_001048174.2(MUTYH):c.1087C>T:p.Gln363Ter	coding	Pathogenic
1	45331684	A	G	A45331684G	MUTYH	NM_001128425.1(MUTYH):c.1163T>C:p.Leu388Pro	coding	Pathogenic/Likely_pathogenic
1	45331712	G	A	G45331712A	MUTYH	NM_001048174.2(MUTYH):c.1051C>T:p.Gln351Ter	coding	Pathogenic
1	45331722	A	T	A45331722T	MUTYH	NM_001128425.1(MUTYH):c.1125T>A:p.Cys375Ter	coding	Pathogenic
1	45331800	C	T	C45331800T	MUTYH	NM_001048171.1(MUTYH):c.1005G>A:p.Trp335Ter	coding	Pathogenic/Likely_pathogenic
1	45331833	C	G	C45331833G	MUTYH	NM_001048174.2(MUTYH):c.930G>C:p.Gln310His	coding	Benign
1	45331834	T	C	T45331834C	MUTYH	NM_001128425.1(MUTYH):c.1013A>G:p.Gln338Arg	coding	Benign/Likely_benign
1	45331835	G	A	G45331835A	MUTYH	NM_001048171.1(MUTYH):c.970C>T:p.Gln324Ter	coding	Pathogenic
1	45332049	G	T	G45332049T	MUTYH	NM_001128425.1(MUTYH):c.971C>A:p.Ser324Ter	coding	Pathogenic
1	45332080	G	A	G45332080A	MUTYH	NM_001128425.1(MUTYH):c.940C>T:p.Gln314Ter	coding	Pathogenic
1	45332215	G	A	G45332215A	MUTYH	NM_001048171.1(MUTYH):c.842C>T:p.Pro281Leu	coding	Pathogenic/Likely_pathogenic
1	45332222	G	A	G45332222A	MUTYH	NM_001048174.2(MUTYH):c.793C>T:p.Gln265Ter	coding	Pathogenic
1	45332242	C	T	C45332242T	MUTYH	NM_001128425.1(MUTYH):c.857G>A:p.Gly286Glu	coding	Pathogenic/Likely_pathogenic
1	45332252	T	C	T45332252C	MUTYH	NM_001128425.1(MUTYH):c.847A>G:p.Met283Val	coding	Pathogenic/Likely_pathogenic
1	45332300	G	A	G45332300A	MUTYH	NM_001128425.1(MUTYH):c.799C>T:p.Gln267Ter	coding	Pathogenic
1	45332310	C	T	C45332310T	MUTYH	NM_001128425.1(MUTYH):c.789G>A:p.Trp263Ter	coding	Pathogenic
1	45332391	C	T	C45332391T	MUTYH	NM_001128425.1(MUTYH):c.788G>A:p.Trp263Ter	coding	Pathogenic
1	45332401	G	A	G45332401A	MUTYH	NM_001128425.1(MUTYH):c.778C>T:p.Gln260Ter	coding	Pathogenic/Likely_pathogenic
1	45332440	G	A	G45332440A	MUTYH	NM_001048171.1(MUTYH):c.697C>T:p.Arg233Ter	coding	Pathogenic
1	45332445	C	T	C45332445T	MUTYH	NM_001048171.1(MUTYH):c.692G>A:p.Arg231His	coding	Pathogenic/Likely_pathogenic
1	45332446	G	A	G45332446A	MUTYH	NM_012222.2(MUTYH):c.724C>T:p.Arg242Cys	coding	Pathogenic/Likely_pathogenic
1	45332458	G	A	G45332458A	MUTYH	NM_001048174.2(MUTYH):c.637C>T:p.Arg213Trp	coding	Pathogenic/Likely_pathogenic
1	45332465	G	A	G45332465A	MUTYH	NM_001048171.1(MUTYH):c.672C>T:p.Asn224=	coding	Benign/Likely_benign
1	45332553	G	T	G45332553T	MUTYH	NM_001048174.2(MUTYH):c.606+21C>A	noncoding	Benign
1	45332576	G	A	G45332576A	MUTYH	NM_001128425.1(MUTYH):c.688C>T:p.Gln230Ter	coding	Pathogenic/Likely_pathogenic
1	45332636	G	A	G45332636A	MUTYH	NM_001128425.1(MUTYH):c.628C>T:p.Gln210Ter	coding	Pathogenic
1	45332652	T	A	T45332652A	MUTYH	NM_001293192.1(MUTYH):c.252A>T:p.Thr84=	coding	Benign
1	45332678	C	A	C45332678A	MUTYH	NM_001128425.1(MUTYH):c.586G>T:p.Glu196Ter	coding	Pathogenic
1	45332780	G	A	G45332780A	MUTYH	NM_001048171.1(MUTYH):c.517C>T:p.Gln173Ter	coding	Pathogenic/Likely_pathogenic
1	45332794	C	T	C45332794T	MUTYH	NM_001048174.2(MUTYH):c.461G>A:p.Arg154His	coding	Pathogenic
1	45332795	G	A	G45332795A	MUTYH	NM_001048171.1(MUTYH):c.502C>T:p.Arg168Cys	coding	Pathogenic/Likely_pathogenic
1	45332802	G	C	G45332802C	MUTYH	NM_001048174.2(MUTYH):c.453C>G:p.Tyr151Ter	coding	Pathogenic
1	45332803	T	C	T45332803C	MUTYH	NM_001048174.2(MUTYH):c.452A>G:p.Tyr151Cys	coding	Pathogenic/Likely_pathogenic
1	45332817	C	T	C45332817T	MUTYH	NM_001048174.2(MUTYH):c.438G>A:p.Trp146Ter	coding	Pathogenic
1	45332818	C	T	C45332818T	MUTYH	NM_001048174.2(MUTYH):c.437G>A:p.Trp146Ter	coding	Pathogenic
1	45332883	T	C	T45332883C	MUTYH	NM_001128425.1(MUTYH):c.504+35A>G	noncoding	Benign
1	45332955	C	T	C45332955T	MUTYH	NM_001048171.1(MUTYH):c.425G>A:p.Trp142Ter	coding	Pathogenic/Likely_pathogenic
1	45332959	T	A	T45332959A	MUTYH	NM_001128425.1(MUTYH):c.463A>T:p.Lys155Ter	coding	Pathogenic
1	45332960	C	T	C45332960T	MUTYH	NM_001128425.1(MUTYH):c.463-1G>A	coding	Pathogenic/Likely_pathogenic
1	45333104	C	T	C45333104T	MUTYH	NM_001048174.2(MUTYH):c.371G>A:p.Trp124Ter	coding	Pathogenic
1	45333115	G	C	G45333115C	MUTYH	NM_001048174.2(MUTYH):c.360C>G:p.Tyr120Ter	coding	Pathogenic
1	45333138	G	A	G45333138A	MUTYH	NM_001128425.1(MUTYH):c.421C>T:p.Gln141Ter	coding	Pathogenic
1	45333166	C	T	C45333166T	MUTYH	NM_001128425.1(MUTYH):c.393G>A:p.Trp131Ter	coding	Pathogenic/Likely_pathogenic
1	45333168	A	T	A45333168T	MUTYH	NM_001128425.1(MUTYH):c.391T>A:p.Trp131Arg	coding	Pathogenic/Likely_pathogenic
1	45333171	C	G	C45333171G	MUTYH	NM_001048174.2(MUTYH):c.305-1G>C	coding	Pathogenic/Likely_pathogenic
1	45333171	C	T	C45333171T	MUTYH	NM_001128425.1(MUTYH):c.389-1G>A	coding	Pathogenic/Likely_pathogenic
1	45333172	T	C	T45333172C	MUTYH	NM_001128425.1(MUTYH):c.389-2A>G	noncoding	Pathogenic
1	45333301	G	A	G45333301A	MUTYH	NM_001048171.1(MUTYH):c.330C>T:p.Asp110=	coding	Benign/Likely_benign
1	45333321	C	A	C45333321A	MUTYH	NM_001048171.1(MUTYH):c.310G>T:p.Glu104Ter	coding	Pathogenic/Likely_pathogenic
1	45333402	C	T	C45333402T	MUTYH	NM_001048171.1(MUTYH):c.306+11G>A	noncoding	Benign/Likely_benign
1	45333423	C	T	C45333423T	MUTYH	NM_001128425.1(MUTYH):c.338G>A:p.Trp113Ter	coding	Pathogenic/Likely_pathogenic
1	45333436	G	A	G45333436A	MUTYH	NM_001048174.2(MUTYH):c.241C>T:p.Arg81Trp	coding	Pathogenic/Likely_pathogenic
1	45333449	G	T	G45333449T	MUTYH	NM_001048171.1(MUTYH):c.270C>A:p.Tyr90Ter	coding	Pathogenic
1	45333453	C	T	C45333453T	MUTYH	NM_001128425.1(MUTYH):c.308G>A:p.Trp103Ter	coding	Pathogenic
1	45333472	G	A	G45333472A	MUTYH	NM_001048171.1(MUTYH):c.247C>T:p.Arg83Ter	coding	Pathogenic
1	45333509	G	T	G45333509T	MUTYH	NM_001048174.2(MUTYH):c.168C>A:p.Tyr56Ter	coding	Pathogenic
1	45333513	G	C	G45333513C	MUTYH	NM_001048171.1(MUTYH):c.206C>G:p.Ser69Ter	coding	Pathogenic/Likely_pathogenic
1	45333583	C	A	C45333583A	MUTYH	NM_001128425.1(MUTYH):c.178G>T:p.Glu60Ter	coding	Pathogenic
1	45334361	T	C	T45334361C	MUTYH	NM_001128425.1(MUTYH):c.157+30A>G	noncoding	Benign
1	45334463	G	A	G45334463A	MUTYH	NM_001048171.1(MUTYH):c.85C>T:p.Gln29Ter	coding	Pathogenic/Likely_pathogenic
1	45334484	C	T	C45334484T	MUTYH	NM_012222.2(MUTYH):c.64G>A:p.Val22Met	coding	Benign
1	45334493	G	A	G45334493A	MUTYH	NM_001128425.1(MUTYH):c.55C>T:p.Arg19Ter	coding	Pathogenic
1	45334505	T	C	T45334505C	MUTYH	NM_001128425.1(MUTYH):c.43A>G:p.Met15Val	coding	Pathogenic
1	45339952	G	A	G45339952A	MUTYH	NM_001048171.1(MUTYH):c.36+267C>T	coding	Benign
1	45340219	C	T	C45340219T	MUTYH	NM_025077.4(TOE1):c.-34C>T	coding	Pathogenic
1	45340220	C	T	C45340220T	MUTYH	NM_025077.4(TOE1):c.-33C>T	coding	Pathogenic/Likely_pathogenic
1	45341093	A	G	A45341093G	TOE1	NM_025077.4(TOE1):c.73A>G:p.Thr25Ala	coding	Benign
1	45341300	C	T	C45341300T	TOE1	NM_025077.4(TOE1):c.196-3C>T	noncoding	Benign
1	45341506	T	C	T45341506C	TOE1	NM_025077.4(TOE1):c.270T>C:p.His90=	coding	Benign
1	45341543	G	A	G45341543A	TOE1	NM_025077.4(TOE1):c.307G>A:p.Ala103Thr	coding	Pathogenic/Likely_pathogenic
1	45342058	T	A	T45342058A	TOE1	NM_025077.4(TOE1):c.443T>A:p.Phe148Tyr	coding	Pathogenic/Likely_pathogenic
1	45342063	C	T	C45342063T	TOE1	NM_025077.4(TOE1):c.448C>T:p.Gln150Ter	coding	Pathogenic
1	45342409	T	G	T45342409G	TOE1	NM_025077.4(TOE1):c.518T>G:p.Val173Gly	coding	Pathogenic/Likely_pathogenic
1	45342549	G	A	G45342549A	TOE1	NM_025077.4(TOE1):c.658G>A:p.Glu220Lys	coding	Pathogenic/Likely_pathogenic
1	45342624	G	T	G45342624T	TOE1	NM_025077.4(TOE1):c.733G>T:p.Glu245Ter	coding	Pathogenic
1	45342987	C	T	C45342987T	TOE1	NM_025077.4(TOE1):c.897C>T:p.Ile299=	coding	Benign
1	45343099	C	T	C45343099T	TOE1	NM_025077.4(TOE1):c.930C>T:p.Pro310=	coding	Benign
1	45343126	C	A	C45343126A	TOE1	NM_025077.4(TOE1):c.957C>A:p.His319Gln	coding	Pathogenic
1	45343310	G	A	G45343310A	TOE1	NM_025077.4(TOE1):c.1141G>A:p.Glu381Lys	coding	Benign/Likely_benign
1	45343345	G	A	G45343345A	TOE1	NM_025077.4(TOE1):c.1176G>A:p.Leu392=	coding	Benign
1	45343548	C	T	C45343548T	TOE1	NM_025077.4(TOE1):c.1379C>T:p.Pro460Leu	coding	Benign
1	45500031	G	T	G45500031T	MMACHC	NM_001102601.3(CCDC163):c.-422C>A	noncoding	Benign
1	45500333	A	G	A45500333G	MMACHC	NM_015506.3(MMACHC):c.1A>G:p.Met1Val	coding	Pathogenic
1	45500335	G	A	G45500335A	MMACHC	NM_015506.3(MMACHC):c.3G>A:p.Met1Ile	coding	Pathogenic
1	45500412	A	G	A45500412G	MMACHC	NM_015506.3(MMACHC):c.80A>G:p.Gln27Arg	coding	Pathogenic
1	45500413	G	A	G45500413A	MMACHC	NM_015506.3(MMACHC):c.81G>A:p.Gln27=	coding	Pathogenic
1	45500414	G	A	G45500414A	MMACHC	NM_015506.3(MMACHC):c.81+1G>A	coding	Pathogenic
1	45507355	G	A	G45507355A	MMACHC	NM_015506.3(MMACHC):c.82-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	45507363	G	A	G45507363A	MMACHC	NM_015506.3(MMACHC):c.89G>A:p.Trp30Ter	coding	Pathogenic
1	45507364	G	A	G45507364A	MMACHC	NM_015506.3(MMACHC):c.90G>A:p.Trp30Ter	coding	Pathogenic/Likely_pathogenic
1	45507432	T	C	T45507432C	MMACHC	NM_015506.3(MMACHC):c.158T>C:p.Leu53Pro	coding	Pathogenic
1	45507439	G	A	G45507439A	MMACHC	NM_015506.3(MMACHC):c.165G>A:p.Thr55=	coding	Benign
1	45507452	G	C	G45507452C	MMACHC	NM_015506.3(MMACHC):c.178G>C:p.Asp60His	coding	Benign
1	45507491	C	T	C45507491T	MMACHC	NM_015506.3(MMACHC):c.217C>T:p.Arg73Ter	coding	Pathogenic
1	45507550	G	A	G45507550A	MMACHC	NM_015506.3(MMACHC):c.276G>A:p.Glu92=	coding	Pathogenic
1	45507550	G	T	G45507550T	MMACHC	NM_015506.3(MMACHC):c.276G>T:p.Glu92Asp	coding	Pathogenic
1	45508227	C	T	C45508227T	MMACHC	NM_015506.3(MMACHC):c.292C>T:p.Gln98Ter	coding	Pathogenic
1	45508250	C	G	C45508250G	MMACHC	NM_015506.3(MMACHC):c.315C>G:p.Tyr105Ter	coding	Pathogenic
1	45508256	G	A	G45508256A	MMACHC	NM_015506.3(MMACHC):c.321G>A:p.Val107=	coding	Benign
1	45508266	C	T	C45508266T	MMACHC	NM_015506.3(MMACHC):c.331C>T:p.Arg111Ter	coding	Pathogenic
1	45508282	T	C	T45508282C	MMACHC	NM_015506.3(MMACHC):c.347T>C:p.Leu116Pro	coding	Pathogenic/Likely_pathogenic
1	45508329	C	T	C45508329T	MMACHC	NM_015506.3(MMACHC):c.394C>T:p.Arg132Ter	coding	Pathogenic
1	45508355	G	A	G45508355A	MMACHC	NM_015506.3(MMACHC):c.420G>A:p.Trp140Ter	coding	Pathogenic
1	45508365	G	C	G45508365C	MMACHC	NM_015506.3(MMACHC):c.429+1G>C	coding	Pathogenic
1	45508806	G	A	G45508806A	MMACHC	NM_015506.3(MMACHC):c.440G>A:p.Gly147Asp	coding	Pathogenic/Likely_pathogenic
1	45508806	G	C	G45508806C	MMACHC	NM_015506.3(MMACHC):c.440G>C:p.Gly147Ala	coding	Pathogenic/Likely_pathogenic
1	45508823	C	T	C45508823T	MMACHC	NM_015506.3(MMACHC):c.457C>T:p.Arg153Ter	coding	Pathogenic
1	45508830	G	A	G45508830A	MMACHC	NM_015506.3(MMACHC):c.464G>A:p.Gly155Glu	coding	Pathogenic
1	45508837	G	C	G45508837C	MMACHC	NM_015506.3(MMACHC):c.471G>C:p.Trp157Cys	coding	Pathogenic
1	45508847	C	T	C45508847T	MMACHC	NM_015506.3(MMACHC):c.481C>T:p.Arg161Ter	coding	Pathogenic
1	45508848	G	A	G45508848A	MMACHC	NM_015506.3(MMACHC):c.482G>A:p.Arg161Gln	coding	Pathogenic
1	45508861	G	A	G45508861A	MMACHC	NM_015506.3(MMACHC):c.495G>A:p.Leu165=	coding	Benign/Likely_benign
1	45508931	C	A	C45508931A	MMACHC	NM_015506.3(MMACHC):c.565C>A:p.Arg189Ser	coding	Pathogenic/Likely_pathogenic
1	45508944	T	C	T45508944C	MMACHC	NM_015506.3(MMACHC):c.578T>C:p.Leu193Pro	coding	Pathogenic/Likely_pathogenic
1	45508974	G	A	G45508974A	MMACHC	NM_015506.3(MMACHC):c.608G>A:p.Trp203Ter	coding	Pathogenic
1	45508975	G	A	G45508975A	MMACHC	NM_015506.3(MMACHC):c.609G>A:p.Trp203Ter	coding	Pathogenic
1	45508981	C	A	C45508981A	MMACHC	NM_015506.3(MMACHC):c.615C>A:p.Tyr205Ter	coding	Pathogenic
1	45508981	C	G	C45508981G	MMACHC	NM_015506.3(MMACHC):c.615C>G:p.Tyr205Ter	coding	Pathogenic
1	45508983	G	A	G45508983A	MMACHC	NM_015506.3(MMACHC):c.617G>A:p.Arg206Gln	coding	Pathogenic
1	45509032	C	A	C45509032A	MMACHC	NM_015506.3(MMACHC):c.666C>A:p.Tyr222Ter	coding	Pathogenic
1	45509104	C	T	C45509104T	MMACHC	NM_015506.3(MMACHC):c.738C>T:p.Pro246=	coding	Benign
1	45509177	A	G	A45509177G	MMACHC	NM_015506.3(MMACHC):c.811A>G:p.Ser271Gly	coding	Benign/Likely_benign
1	45509628	G	A	G45509628A	MMACHC	NM_015506.3(MMACHC):c.*413G>A	noncoding	Benign
1	45510184	C	G	C45510184G	MMACHC	NM_015506.3(MMACHC):c.*969C>G	noncoding	Benign
1	45510475	G	A	G45510475A	MMACHC	NM_015506.3(MMACHC):c.*1260G>A	noncoding	Benign
1	45510577	G	A	G45510577A	MMACHC	NM_015506.3(MMACHC):c.*1362G>A	noncoding	Benign
1	45510800	G	C	G45510800C	MMACHC	NM_015506.3(MMACHC):c.*1585G>C	noncoding	Benign
1	45510915	A	G	A45510915G	MMACHC	NM_015506.3(MMACHC):c.*1700A>G	noncoding	Benign
1	45511415	C	A	C45511415A	PRDX1	NM_181697.3(PRDX1):c.515-1G>T	coding	Pathogenic
1	45511416	T	A	T45511416A	PRDX1	NM_181697.3(PRDX1):c.515-2A>T	noncoding	Pathogenic
1	45566635	G	A	G45566635A	AKR1A1	NM_153326.3(AKR1A1):c.151G>A:p.Gly51Ser	coding	Benign
1	45569881	C	G	C45569881G	AKR1A1	NM_153326.3(AKR1A1):c.913-10C>G	noncoding	Benign
1	45607496	A	C	A45607496C	NASP	NM_002482.4(NASP):c.585A>C:p.Pro195=	coding	Benign
1	45824425	C	G	C45824425G	MAST2	NM_015112.3(MAST2):c.178-8C>G	noncoding	Benign
1	45959390	C	T	C45959390T	MAST2	NM_015112.3(MAST2):c.505C>T:p.Arg169Trp	coding	Benign
1	46029483	G	A	G46029483A	MAST2	NM_015112.3(MAST2):c.2236G>A:p.Glu746Lys	coding	Benign
1	46031157	A	G	A46031157G	MAST2	NM_015112.3(MAST2):c.2859A>G:p.Gln953=	coding	Benign
1	46035598	C	T	C46035598T	MAST2	NM_015112.3(MAST2):c.4929C>T:p.Cys1643=	coding	Benign
1	46181108	A	G	A46181108G	TSPAN1	NM_005727.4(TSPAN1):c.1A>G:p.Met1Val	coding	Benign
1	46189428	T	C	T46189428C	POMGNT1	NM_001243766.1(POMGNT1):c.1869+56A>G	noncoding	Benign
1	46189457	C	T	C46189457T	POMGNT1	NM_017739.3(POMGNT1):c.1895+1G>A	noncoding	Pathogenic
1	46189458	G	C	G46189458C	POMGNT1	NM_017739.3(POMGNT1):c.1895C>G:p.Ser632Ter	coding	Pathogenic
1	46189486	T	C	T46189486C	POMGNT1	NM_017739.3(POMGNT1):c.1867=:p.Val623=	coding	Benign
1	46189539	C	G	C46189539G	POMGNT1	NM_017739.3(POMGNT1):c.1814G>C:p.Arg605Pro	coding	Pathogenic/Likely_pathogenic
1	46189870	C	T	C46189870T	POMGNT1	NM_017739.3(POMGNT1):c.1769G>A:p.Trp590Ter	coding	Pathogenic/Likely_pathogenic
1	46189901	G	A	G46189901A	POMGNT1	NM_017739.3(POMGNT1):c.1738C>T:p.Arg580Ter	coding	Pathogenic/Likely_pathogenic
1	46190800	G	A	G46190800A	POMGNT1	NM_017739.3(POMGNT1):c.1540-16C>T	noncoding	Benign
1	46191779	C	A	C46191779A	POMGNT1	NM_017739.3(POMGNT1):c.1539+319G>T	noncoding	Benign
1	46191883	A	C	A46191883C	POMGNT1	NM_017739.3(POMGNT1):c.1539+215T>G	noncoding	Benign
1	46191979	T	C	T46191979C	POMGNT1	NM_017739.3(POMGNT1):c.1539+119A>G	noncoding	Benign
1	46192097	C	A	C46192097A	POMGNT1	NM_017739.3(POMGNT1):c.1539+1G>T	noncoding	Pathogenic
1	46192132	C	G	C46192132G	POMGNT1	NM_017739.3(POMGNT1):c.1505G>C:p.Gly502Ala	coding	Pathogenic
1	46192159	G	C	G46192159C	POMGNT1	NM_017739.3(POMGNT1):c.1478C>G:p.Pro493Arg	coding	Pathogenic
1	46192168	C	T	C46192168T	POMGNT1	NM_017739.3(POMGNT1):c.1469G>A:p.Cys490Tyr	coding	Pathogenic/Likely_pathogenic
1	46192175	G	A	G46192175A	POMGNT1	NM_017739.3(POMGNT1):c.1462C>T:p.Arg488Ter	coding	Pathogenic
1	46192212	C	T	C46192212T	POMGNT1	NM_017739.3(POMGNT1):c.1425G>A:p.Trp475Ter	coding	Pathogenic
1	46192307	C	A	C46192307A	POMGNT1	NM_017739.3(POMGNT1):c.1413+1G>T	noncoding	Pathogenic
1	46192307	C	G	C46192307G	POMGNT1	NM_017739.3(POMGNT1):c.1413+1G>C	noncoding	Pathogenic
1	46192307	C	T	C46192307T	POMGNT1	NM_017739.3(POMGNT1):c.1413+1G>A	noncoding	Pathogenic
1	46192396	C	T	C46192396T	POMGNT1	NM_017739.4(POMGNT1):c.1325G>A:p.Arg442His	coding	Pathogenic
1	46192397	G	A	G46192397A	POMGNT1	NM_017739.3(POMGNT1):c.1324C>T:p.Arg442Cys	coding	Pathogenic/Likely_pathogenic
1	46192423	G	A	G46192423A	POMGNT1	NM_017739.3(POMGNT1):c.1298C>T:p.Thr433Met	coding	Benign/Likely_benign
1	46192520	G	A	G46192520A	POMGNT1	NM_017739.4(POMGNT1):c.1282C>T:p.Gln428Ter	coding	Pathogenic
1	46192545	C	T	C46192545T	POMGNT1	NM_017739.3(POMGNT1):c.1257G>A:p.Leu419=	coding	Benign/Likely_benign
1	46192671	G	A	G46192671A	POMGNT1	NM_017739.3(POMGNT1):c.1212-81C>T	noncoding	Benign
1	46193224	G	A	G46193224A	POMGNT1	NM_017739.3(POMGNT1):c.1111-9C>T	noncoding	Benign
1	46193238	G	A	G46193238A	POMGNT1	NM_017739.3(POMGNT1):c.1111-23C>T	noncoding	Benign
1	46193432	T	C	T46193432C	POMGNT1	NM_017739.3(POMGNT1):c.1027-44A>G	noncoding	Benign
1	46193599	G	A	G46193599A	POMGNT1	NM_017739.3(POMGNT1):c.991C>T:p.Gln331Ter	coding	Pathogenic
1	46193874	G	A	G46193874A	POMGNT1	NM_017739.3(POMGNT1):c.931C>T:p.Arg311Ter	coding	Pathogenic
1	46194293	A	C	A46194293C	POMGNT1	NM_017739.3(POMGNT1):c.860T>G:p.Ile287Ser	coding	Pathogenic
1	46194623	T	C	T46194623C	POMGNT1	NM_017739.3(POMGNT1):c.681A>G:p.Lys227=	coding	Benign
1	46194853	G	A	G46194853A	POMGNT1	NM_017739.3(POMGNT1):c.643C>T:p.Arg215Ter	coding	Pathogenic
1	46194860	G	A	G46194860A	POMGNT1	NM_017739.3(POMGNT1):c.636C>T:p.Phe212=	coding	Pathogenic
1	46195834	G	A	G46195834A	POMGNT1	NM_017739.3(POMGNT1):c.511C>T:p.Arg171Ter	coding	Pathogenic
1	46195879	C	T	C46195879T	POMGNT1	NM_017739.3(POMGNT1):c.466G>A:p.Glu156Lys	coding	Pathogenic
1	46195887	G	C	G46195887C	POMGNT1	NM_017739.3(POMGNT1):c.458C>G:p.Ser153Ter	coding	Pathogenic
1	46196073	A	C	A46196073C	POMGNT1	NM_001290130.1(POMGNT1):c.-71T>G	coding	Pathogenic
1	46196781	C	A	C46196781A	POMGNT1	NM_017739.4(POMGNT1):c.304G>T:p.Glu102Ter	coding	Pathogenic
1	46196796	G	A	G46196796A	POMGNT1	NM_017739.3(POMGNT1):c.289C>T:p.Arg97Trp	coding	Benign/Likely_benign
1	46196937	A	C	A46196937C	POMGNT1	NM_017739.3(POMGNT1):c.235+33T>G	noncoding	Benign
1	46197018	G	A	G46197018A	POMGNT1	NM_001290130.1(POMGNT1):c.-243C>T	coding	Pathogenic
1	46220120	A	G	A46220120G	LURAP1	NM_001013615.3(LURAP1):c.620A>G:p.Gln207Arg	coding	Benign
1	46250097	C	A	C46250097A	RAD54L	NM_003579.4(RAD54L):c.188C>A:p.Pro63His	coding	Pathogenic
1	46267540	G	A	G46267540A	RAD54L	NM_003579.4(RAD54L):c.973G>A:p.Gly325Arg	coding	Pathogenic
1	46272758	T	A	T46272758A	RAD54L	NM_003579.4(RAD54L):c.1331T>A:p.Val444Glu	coding	Pathogenic
1	46298275	G	C	G46298275C	LRRC41	NM_006369.4(LRRC41):c.286+9C>G	noncoding	Benign
1	46405033	G	A	G46405033A	FAAH	NM_001441.3(FAAH):c.329G>A:p.Gly110Glu	coding	Benign
1	46405089	C	A	C46405089A	FAAH	NM_001441.3(FAAH):c.385C>A:p.Pro129Thr	coding	Benign
1	46405702	C	G	C46405702G	FAAH	NM_001441.3(FAAH):c.693C>G:p.Pro231=	coding	Benign
1	46406041	G	A	G46406041A	FAAH	NM_001441.3(FAAH):c.789G>A:p.Lys263=	coding	Benign
1	46408574	C	T	C46408574T	FAAH	NM_001441.3(FAAH):c.1067C>T:p.Ala356Val	coding	Benign
1	46410816	G	C	G46410816C	FAAH	NM_001441.3(FAAH):c.1278G>C:p.Leu426=	coding	Benign
1	46410857	A	G	A46410857G	FAAH	NM_001441.3(FAAH):c.1316+3A>G	noncoding	Benign
1	46411612	T	G	T46411612G	FAAH	NM_001441.3(FAAH):c.1317T>G:p.Arg439=	coding	Benign
1	46412213	C	G	C46412213G	FAAH	NM_001441.3(FAAH):c.1427C>G:p.Ala476Gly	coding	Benign
1	46413467	G	A	G46413467A	FAAH	NM_001441.3(FAAH):c.1632G>A:p.Gly544=	coding	Benign
1	46413513	T	C	T46413513C	FAAH	NM_001441.3(FAAH):c.1678T>C:p.Leu560=	coding	Benign
1	46673445	T	A	T46673445A	TEX38	NM_001145474.4(TEX38):c.610T>A:p.Ser204Thr	coding	Benign
1	46799094	T	A	T46799094A	CYP4B1	NM_001099772.2(CYP4B1):c.13T>A:p.Phe5Ile	coding	Benign
1	46799228	T	C	T46799228C	CYP4B1	NM_001099772.2(CYP4B1):c.147T>C:p.Pro49=	coding	Benign
1	46811147	G	A	G46811147A	CYP4B1	NM_001099772.2(CYP4B1):c.330G>A:p.Lys110=	coding	Benign
1	46814226	C	T	C46814226T	CYP4B1	NM_001099772.2(CYP4B1):c.793C>T:p.Arg265Trp	coding	Benign
1	46814282	C	T	C46814282T	CYP4B1	NM_001099772.2(CYP4B1):c.849C>T:p.His283=	coding	Benign
1	46815180	A	C	A46815180C	CYP4B1	NM_001099772.2(CYP4B1):c.989A>C:p.Tyr330Ser	coding	Benign
1	46815255	T	G	T46815255G	CYP4B1	NM_001099772.2(CYP4B1):c.1064T>G:p.Phe355Cys	coding	Benign
1	46817083	G	C	G46817083C	CYP4B1	NM_001099772.2(CYP4B1):c.1109G>C:p.Cys370Ser	coding	Benign
1	46817955	C	T	C46817955T	CYP4B1	NM_001099772.2(CYP4B1):c.1208-10C>T	noncoding	Benign
1	46818723	G	A	G46818723A	CYP4B1	NM_001099772.2(CYP4B1):c.1448G>A:p.Arg483Gln	coding	Benign
1	46930214	G	A	G46930214A	CYP4A11	NM_000778.4(CYP4A11):c.1461C>T:p.Ile487=	coding	Benign
1	46937987	C	T	C46937987T	CYP4A11	NM_000778.4(CYP4A11):c.337+9G>A	noncoding	Benign
1	47094635	G	A	G47094635A	CYP4Z1	NM_178134.3(CYP4Z1):c.842G>A:p.Arg281His	coding	Benign
1	47250820	A	G	A47250820G	STIL	NM_001048166.1(STIL):c.*316T>C	noncoding	Benign
1	47251217	C	T	C47251217T	STIL	NM_001048166.1(STIL):c.3786G>A:p.Thr1262=	coding	Benign/Likely_benign
1	47251285	G	A	G47251285A	STIL	NM_001048166.1(STIL):c.3718C>T:p.Gln1240Ter	coding	Pathogenic
1	47251488	G	A	G47251488A	STIL	NM_001048166.1(STIL):c.3515C>T:p.Ser1172Phe	coding	Benign/Likely_benign
1	47251517	A	C	A47251517C	STIL	NM_001048166.1(STIL):c.3486T>G:p.Pro1162=	coding	Benign
1	47251517	A	G	A47251517G	STIL	NM_001048166.1(STIL):c.3486T>C:p.Pro1162=	coding	Benign
1	47251573	C	T	C47251573T	STIL	NM_001048166.1(STIL):c.3430G>A:p.Asp1144Asn	coding	Benign/Likely_benign
1	47251625	T	C	T47251625C	STIL	NM_001048166.1(STIL):c.3378A>G:p.Arg1126=	coding	Benign/Likely_benign
1	47260412	T	C	T47260412C	STIL	NM_001048166.1(STIL):c.2957A>G:p.His986Arg	coding	Benign
1	47260415	T	C	T47260415C	STIL	NM_001048166.1(STIL):c.2954A>G:p.His985Arg	coding	Benign
1	47260511	G	T	G47260511T	STIL	NM_001048166.1(STIL):c.2858C>A:p.Ser953Tyr	coding	Benign
1	47260541	T	C	T47260541C	STIL	NM_001048166.1(STIL):c.2830-2A>G	noncoding	Pathogenic
1	47262902	C	T	C47262902T	STIL	NM_001048166.1(STIL):c.2829+1G>A	noncoding	Pathogenic
1	47269608	T	C	T47269608C	STIL	NM_001048166.1(STIL):c.2615+27A>G	noncoding	Benign
1	47269857	A	C	A47269857C	STIL	NM_001048166.1(STIL):c.2393T>G:p.Leu798Trp	coding	Pathogenic
1	47269879	T	C	T47269879C	STIL	NM_001048166.1(STIL):c.2384-13A>G	noncoding	Benign
1	47272258	C	T	C47272258T	STIL	NM_001048166.1(STIL):c.2218-17G>A	noncoding	Benign
1	47280441	T	C	T47280441C	STIL	NM_001048166.1(STIL):c.2017A>G:p.Ser673Gly	coding	Benign/Likely_benign
1	47281006	G	C	G47281006C	STIL	NM_001048166.1(STIL):c.1452C>G:p.Ser484=	coding	Benign
1	47281195	T	G	T47281195G	STIL	NM_001048166.1(STIL):c.1263A>C:p.Gln421His	coding	Benign
1	47281196	T	G	T47281196G	STIL	NM_001048166.1(STIL):c.1262A>C:p.Gln421Pro	coding	Benign
1	47287324	T	C	T47287324C	STIL	NM_001048166.1(STIL):c.1133+227A>G	noncoding	Benign
1	47287733	G	A	G47287733A	STIL	NM_001048166.1(STIL):c.1024-73C>T	noncoding	Benign
1	47299717	T	C	T47299717C	STIL	NM_001048166.1(STIL):c.701+188A>G	noncoding	Benign
1	47299818	T	C	T47299818C	STIL	NM_001048166.1(STIL):c.701+87A>G	noncoding	Benign
1	47300146	G	A	G47300146A	STIL	NM_001048166.1(STIL):c.460C>T:p.Gln154Ter	coding	Pathogenic
1	47301271	T	C	T47301271C	STIL	NM_001048166.1(STIL):c.453+290A>G	noncoding	Benign
1	47301469	C	A	C47301469A	STIL	NM_001048166.1(STIL):c.453+92G>T	noncoding	Benign
1	47301556	C	T	C47301556T	STIL	NM_001048166.1(STIL):c.453+5G>A	noncoding	Pathogenic
1	47302242	G	A	G47302242A	STIL	NM_001048166.1(STIL):c.257C>T:p.Ala86Val	coding	Benign
1	47304769	A	C	A47304769C	STIL	NM_001048166.1(STIL):c.152+120T>G	noncoding	Benign
1	47304794	T	C	T47304794C	STIL	NM_001048166.1(STIL):c.152+95A>G	noncoding	Benign
1	47305114	T	A	T47305114A	STIL	NM_001048166.1(STIL):c.45-118A>T	noncoding	Benign
1	47314021	C	T	C47314021T	STIL	NM_001048166.1(STIL):c.-44+15G>A	noncoding	Benign
1	47416302	G	A	G47416302A	FOXE3	NM_012186.3(FOXE3):c.-14G>A	noncoding	Benign
1	47416331	G	A	G47416331A	FOXE3	NM_012186.3(FOXE3):c.16G>A:p.Asp6Asn	coding	Benign/Likely_benign
1	47416461	G	C	G47416461C	FOXE3	NM_012186.3(FOXE3):c.146G>C:p.Gly49Ala	coding	Benign
1	47416473	C	T	C47416473T	FOXE3	NM_012186.3(FOXE3):c.158C>T:p.Pro53Leu	coding	Benign
1	47416549	G	A	G47416549A	FOXE3	NM_012186.3(FOXE3):c.234G>A:p.Ala78=	coding	Benign/Likely_benign
1	47416559	A	G	A47416559G	FOXE3	NM_012186.3(FOXE3):c.244A>G:p.Met82Val	coding	Pathogenic/Likely_pathogenic
1	47416591	C	T	C47416591T	FOXE3	NM_012186.3(FOXE3):c.276C>T:p.Leu92=	coding	Benign
1	47416622	G	A	G47416622A	FOXE3	NM_012186.3(FOXE3):c.307G>A:p.Glu103Lys	coding	Pathogenic
1	47416738	G	A	G47416738A	FOXE3	NM_012186.3(FOXE3):c.423G>A:p.Lys141=	coding	Benign
1	47416825	C	T	C47416825T	FOXE3	NM_012186.3(FOXE3):c.510C>T:p.Ala170=	coding	Benign
1	47416902	G	C	G47416902C	FOXE3	NM_012186.3(FOXE3):c.587G>C:p.Gly196Ala	coding	Benign/Likely_benign
1	47416916	G	A	G47416916A	FOXE3	NM_012186.3(FOXE3):c.601G>A:p.Val201Met	coding	Benign
1	47416933	C	G	C47416933G	FOXE3	NM_012186.3(FOXE3):c.618C>G:p.Ala206=	coding	Benign
1	47417035	C	A	C47417035A	FOXE3	NM_012186.3(FOXE3):c.720C>A:p.Cys240Ter	coding	Pathogenic
1	47417213	A	G	A47417213G	FOXE3	NM_012186.3(FOXE3):c.898A>G:p.Ser300Gly	coding	Benign/Likely_benign
1	47417244	G	A	G47417244A	FOXE3	NM_012186.3(FOXE3):c.929G>A:p.Gly310Asp	coding	Benign
1	47417274	G	T	G47417274T	FOXE3	NM_012186.3(FOXE3):c.959G>T:p.Ter320Leu	coding	Pathogenic
1	47438328	G	A	G47438328A	FOXD2	NC_000001.11:g.47438328G>A	coding	Benign
1	48413132	C	T	C48413132T	SPATA6	NM_019073.4(SPATA6):c.258G>A:p.Glu86=	coding	Benign
1	50491713	A	C	A50491713C	FAF1	NM_007051.3(FAF1):c.1575+8T>G	noncoding	Benign
1	51878439	G	A	G51878439A	NRDC	NM_002525.2(NRDC):c.177C>T:p.Thr59=	coding	Benign
1	51878485	G	A	G51878485A	NRDC	NM_002525.2(NRDC):c.131C>T:p.Pro44Leu	coding	Benign
1	52354668	G	A	G52354668A	CC2D1B	NM_001330585.2(CC2D1B):c.2370C>T:p.Gly790=	coding	Benign
1	52355823	G	A	G52355823A	CC2D1B	NM_001330585.2(CC2D1B):c.2076C>T:p.Ser692=	coding	Benign
1	52357827	C	A	C52357827A	CC2D1B	NM_001330585.2(CC2D1B):c.1533G>T:p.Leu511=	coding	Benign
1	52372950	G	A	G52372950A	ORC1	NM_004153.4(ORC1):c.*231C>T	noncoding	Benign
1	52373320	A	G	A52373320G	ORC1	NM_004153.4(ORC1):c.2447T>C:p.Met816Thr	coding	Benign
1	52373340	C	T	C52373340T	ORC1	NM_004153.4(ORC1):c.2427G>A:p.Glu809=	coding	Benign
1	52374887	C	T	C52374887T	ORC1	NM_004153.4(ORC1):c.2314G>A:p.Val772Ile	coding	Benign/Likely_benign
1	52375507	G	T	G52375507T	ORC1	NM_004153.4(ORC1):c.2226C>A:p.Ser742=	coding	Benign/Likely_benign
1	52375574	C	T	C52375574T	ORC1	NM_004153.4(ORC1):c.2159G>A:p.Arg720Gln	coding	Pathogenic
1	52383437	G	A	G52383437A	ORC1	NM_004153.4(ORC1):c.1996C>T:p.Arg666Trp	coding	Pathogenic
1	52384560	T	C	T52384560C	ORC1	NM_004153.4(ORC1):c.1745A>G:p.Gln582Arg	coding	Benign
1	52384725	G	C	G52384725C	ORC1	NM_004153.4(ORC1):c.1584-4C>G	noncoding	Benign
1	52385264	T	C	T52385264C	ORC1	NM_004153.4(ORC1):c.1482-2A>G	noncoding	Pathogenic
1	52385927	C	T	C52385927T	ORC1	NM_004153.4(ORC1):c.1406G>A:p.Cys469Tyr	coding	Benign
1	52385936	G	A	G52385936A	ORC1	NM_004153.4(ORC1):c.1397C>T:p.Thr466Met	coding	Benign
1	52388586	T	G	T52388586G	ORC1	NM_004153.4(ORC1):c.1239A>C:p.Ala413=	coding	Benign/Likely_benign
1	52389218	G	A	G52389218A	ORC1	NM_004153.4(ORC1):c.1186C>T:p.Arg396Trp	coding	Benign/Likely_benign
1	52389289	G	A	G52389289A	ORC1	NM_004153.4(ORC1):c.1115C>T:p.Ala372Val	coding	Benign
1	52393719	G	A	G52393719A	ORC1	NM_004153.4(ORC1):c.806C>T:p.Ser269Leu	coding	Benign/Likely_benign
1	52396199	C	T	C52396199T	ORC1	NM_004153.4(ORC1):c.568G>A:p.Val190Met	coding	Benign
1	52396227	T	G	T52396227G	ORC1	NM_004153.4(ORC1):c.540A>C:p.Gln180His	coding	Benign
1	52396311	C	T	C52396311T	ORC1	NM_004153.4(ORC1):c.456G>A:p.Lys152=	coding	Benign
1	52397707	T	C	T52397707C	ORC1	NM_004153.4(ORC1):c.380A>G:p.Glu127Gly	coding	Pathogenic
1	52397733	C	T	C52397733T	ORC1	NM_004153.4(ORC1):c.354G>A:p.Pro118=	coding	Benign
1	52397773	C	T	C52397773T	ORC1	NM_004153.4(ORC1):c.314G>A:p.Arg105Gln	coding	Pathogenic/Likely_pathogenic
1	52397821	A	G	A52397821G	ORC1	NM_004153.4(ORC1):c.266T>C:p.Phe89Ser	coding	Pathogenic
1	52402167	C	G	C52402167G	ORC1	NM_004153.4(ORC1):c.57G>C:p.Arg19Ser	coding	Benign/Likely_benign
1	52461623	T	A	T52461623A	TUT4	NM_001009881.3(TUT4):c.3128-7A>T	noncoding	Benign
1	52461743	T	C	T52461743C	TUT4	NM_001009881.3(TUT4):c.3096A>G:p.Glu1032=	coding	Benign
1	52475173	C	A	C52475173A	TUT4	NM_001009881.3(TUT4):c.2386G>T:p.Asp796Tyr	coding	Benign
1	52525715	G	A	G52525715A	TUT4	NM_001009881.3(TUT4):c.566C>T:p.Thr189Ile	coding	Benign
1	52525897	T	C	T52525897C	TUT4	NM_001009881.3(TUT4):c.384A>G:p.Ala128=	coding	Benign
1	52687970	C	A	C52687970A	COA7	NM_023077.3(COA7):c.446G>T:p.Ser149Ile	coding	Pathogenic
1	52688006	T	C	T52688006C	COA7	NM_023077.3(COA7):c.410A>G:p.Tyr137Cys	coding	Pathogenic
1	52692726	C	A	C52692726A	COA7	NM_023077.3(COA7):c.247+1G>T	noncoding	Pathogenic
1	52698310	T	C	T52698310C	COA7	NM_023077.3(COA7):c.17A>G:p.Asp6Gly	coding	Pathogenic
1	52857112	G	A	G52857112A	ZYG11A	NM_001004339.3(ZYG11A):c.371G>A:p.Arg124His	coding	Benign
1	52976704	A	G	A52976704G	SCP2	NM_002979.5(SCP2):c.609A>G:p.Glu203=	coding	Benign
1	52978211	T	C	T52978211C	SCP2	NM_002979.5(SCP2):c.675-6T>C	noncoding	Benign
1	52978229	T	C	T52978229C	SCP2	NM_002979.5(SCP2):c.687T>C:p.Asp229=	coding	Benign/Likely_benign
1	52988011	C	T	C52988011T	SCP2	NM_002979.5(SCP2):c.974-18C>T	noncoding	Benign
1	52988042	G	T	G52988042T	SCP2	NM_002979.5(SCP2):c.987G>T:p.Thr329=	coding	Benign
1	53015032	G	A	G53015032A	SCP2	NM_002979.5(SCP2):c.1224G>A:p.Pro408=	coding	Benign
1	53015073	G	A	G53015073A	SCP2	NM_002979.5(SCP2):c.1235+30G>A	noncoding	Benign
1	53027953	A	G	A53027953G	SCP2	NM_002979.5(SCP2):c.1236-16A>G	noncoding	Benign
1	53039063	C	A	C53039063A	SCP2	NM_002979.5(SCP2):c.1468+17C>A	noncoding	Benign
1	53050711	C	A	C53050711A	SCP2	NM_002979.5(SCP2):c.*7C>A	noncoding	Benign
1	53197092	C	A	C53197092A	CPT2	NM_000098.3(CPT2):c.149C>A:p.Pro50His	coding	Pathogenic
1	53200436	T	C	T53200436C	CPT2	NM_000098.3(CPT2):c.153-283T>C	noncoding	Benign
1	53202322	G	A	G53202322A	CPT2	NM_000098.3(CPT2):c.234-1G>A	noncoding	Pathogenic
1	53202391	C	T	C53202391T	CPT2	NM_000098.3(CPT2):c.302C>T:p.Ala101Val	coding	Benign
1	53209860	T	C	T53209860C	CPT2	NM_000098.3(CPT2):c.341-155T>C	noncoding	Benign
1	53210044	C	T	C53210044T	CPT2	NM_000098.3(CPT2):c.370C>T:p.Arg124Ter	coding	Pathogenic/Likely_pathogenic
1	53210126	G	A	G53210126A	CPT2	NM_000098.3(CPT2):c.452G>A:p.Arg151Gln	coding	Pathogenic/Likely_pathogenic
1	53210185	C	T	C53210185T	CPT2	NM_000098.3(CPT2):c.511C>T:p.Leu171=	coding	Benign
1	53210194	G	A	G53210194A	CPT2	NM_000098.3(CPT2):c.520G>A:p.Glu174Lys	coding	Pathogenic/Likely_pathogenic
1	53210262	T	C	T53210262C	CPT2	NM_000098.3(CPT2):c.588T>C:p.Pro196=	coding	Benign/Likely_benign
1	53210312	A	G	A53210312G	CPT2	NM_000098.3(CPT2):c.638A>G:p.Asp213Gly	coding	Pathogenic
1	53210315	T	C	T53210315C	CPT2	NM_000098.3(CPT2):c.641T>C:p.Met214Thr	coding	Pathogenic
1	53210354	C	T	C53210354T	CPT2	NM_000098.3(CPT2):c.680C>T:p.Pro227Leu	coding	Pathogenic/Likely_pathogenic
1	53210482	C	T	C53210482T	CPT2	NM_000098.3(CPT2):c.808C>T:p.Gln270Ter	coding	Pathogenic
1	53210560	C	T	C53210560T	CPT2	NM_000098.3(CPT2):c.886C>T:p.Arg296Ter	coding	Pathogenic/Likely_pathogenic
1	53210570	G	A	G53210570A	CPT2	NM_000098.3(CPT2):c.896G>A:p.Trp299Ter	coding	Pathogenic
1	53210657	A	G	A53210657G	CPT2	NM_000098.3(CPT2):c.983A>G:p.Asp328Gly	coding	Pathogenic
1	53210726	G	A	G53210726A	CPT2	NM_000098.3(CPT2):c.1052G>A:p.Trp351Ter	coding	Pathogenic
1	53210729	T	G	T53210729G	CPT2	NM_000098.3(CPT2):c.1055T>G:p.Phe352Cys	coding	Benign/Likely_benign
1	53210776	G	A	G53210776A	CPT2	NM_000098.3(CPT2):c.1102G>A:p.Val368Ile	coding	Benign
1	53210819	G	A	G53210819A	CPT2	NM_000098.3(CPT2):c.1145G>A:p.Arg382Lys	coding	Pathogenic
1	53210822	T	A	T53210822A	CPT2	NM_000098.3(CPT2):c.1148T>A:p.Phe383Tyr	coding	Pathogenic/Likely_pathogenic
1	53211034	G	T	G53211034T	CPT2	NM_000098.3(CPT2):c.1360G>T:p.Glu454Ter	coding	Pathogenic
1	53211043	A	T	A53211043T	CPT2	NM_000098.3(CPT2):c.1369A>T:p.Lys457Ter	coding	Pathogenic/Likely_pathogenic
1	53211078	G	A	G53211078A	CPT2	NM_000098.3(CPT2):c.1404G>A:p.Gln468=	coding	Benign
1	53211185	C	T	C53211185T	CPT2	NM_000098.3(CPT2):c.1511C>T:p.Pro504Leu	coding	Pathogenic
1	53211186	G	T	G53211186T	CPT2	NM_000098.3(CPT2):c.1512G>T:p.Pro504=	coding	Benign/Likely_benign
1	53211219	C	T	C53211219T	CPT2	NM_000098.3(CPT2):c.1545C>T:p.Ala515=	coding	Benign/Likely_benign
1	53211252	T	C	T53211252C	CPT2	NM_000098.3(CPT2):c.1578T>C:p.Gly526=	coding	Benign/Likely_benign
1	53211272	T	C	T53211272C	CPT2	NM_000098.3(CPT2):c.1598T>C:p.Val533Ala	coding	Benign/Likely_benign
1	53213381	C	G	C53213381G	CPT2	NM_000098.3(CPT2):c.1763C>G:p.Ser588Cys	coding	Benign/Likely_benign
1	53213385	G	A	G53213385A	CPT2	NM_000098.3(CPT2):c.1767G>A:p.Thr589=	coding	Benign
1	53213469	T	C	T53213469C	CPT2	NM_000098.3(CPT2):c.1851T>C:p.His617=	coding	Benign
1	53213501	A	C	A53213501C	CPT2	NM_000098.3(CPT2):c.1883A>C:p.Tyr628Ser	coding	Pathogenic/Likely_pathogenic
1	53213509	C	T	C53213509T	CPT2	NM_000098.3(CPT2):c.1891C>T:p.Arg631Cys	coding	Pathogenic
1	53213557	A	G	A53213557G	CPT2	NM_000098.3(CPT2):c.1939A>G:p.Met647Val	coding	Benign
1	53214206	T	C	T53214206C	CPT2	NM_017887.3(CZIB):c.*453A>G	noncoding	Benign
1	53250819	T	C	T53250819C	LRP8	NM_004631.5(LRP8):c.2547A>G:p.Arg849=	coding	Benign
1	53258321	C	T	C53258321T	LRP8	NM_004631.5(LRP8):c.2207G>A:p.Arg736Gln	coding	Benign
1	53262213	G	A	G53262213A	LRP8	NM_004631.5(LRP8):c.1775-6C>T	noncoding	Benign
1	53266475	A	G	A53266475G	LRP8	NM_004631.5(LRP8):c.1425T>C:p.Tyr475=	coding	Benign
1	53271243	G	A	G53271243A	LRP8	NM_004631.5(LRP8):c.1110C>T:p.Asp370=	coding	Benign
1	53276708	C	T	C53276708T	LRP8	NM_004631.5(LRP8):c.867G>A:p.Ser289=	coding	Benign
1	53276804	G	A	G53276804A	LRP8	NM_004631.5(LRP8):c.771C>T:p.Ala257=	coding	Benign
1	53280600	G	C	G53280600C	LRP8	NM_004631.5(LRP8):c.483C>G:p.Ala161=	coding	Benign
1	53280648	C	T	C53280648T	LRP8	NM_004631.5(LRP8):c.435G>A:p.Ser145=	coding	Benign
1	53524767	G	C	G53524767C	GLIS1	NM_147193.2(GLIS1):c.1068+10C>G	noncoding	Benign
1	53594184	T	C	T53594184C	GLIS1	NM_147193.2(GLIS1):c.719A>G:p.Tyr240Cys	coding	Benign
1	53594436	A	G	A53594436G	GLIS1	NM_147193.2(GLIS1):c.467T>C:p.Leu156Pro	coding	Benign
1	53594651	G	C	G53594651C	GLIS1	NM_147193.2(GLIS1):c.252C>G:p.Ser84=	coding	Benign
1	53594669	G	A	G53594669A	GLIS1	NM_147193.2(GLIS1):c.234C>T:p.Ser78=	coding	Benign
1	53594755	C	T	C53594755T	GLIS1	NM_147193.2(GLIS1):c.148G>A:p.Gly50Ser	coding	Benign
1	53894498	G	A	G53894498A	DIO1	NM_000792.7(DIO1):c.288G>A:p.Pro96=	coding	Benign
1	54584780	G	A	G54584780A	ACOT11	NM_147161.4(ACOT11):c.159G>A:p.Val53=	coding	Benign
1	54599421	G	T	G54599421T	ACOT11	NM_147161.4(ACOT11):c.884+6G>T	noncoding	Benign
1	54607957	C	T	C54607957T	ACOT11	NM_147161.4(ACOT11):c.1518C>T:p.Ile506=	coding	Benign
1	54608077	G	A	G54608077A	ACOT11	NM_147161.4(ACOT11):c.1629+9G>A	noncoding	Benign
1	54610482	G	A	G54610482A	FAM151A	NM_176782.3(FAM151A):c.1014C>T:p.Asp338=	coding	Benign
1	54611728	C	T	C54611728T	FAM151A	NM_176782.3(FAM151A):c.818G>A:p.Trp273Ter	coding	Benign
1	54612637	T	G	T54612637G	FAM151A	NM_176782.3(FAM151A):c.649A>C:p.Thr217Pro	coding	Benign
1	54619932	C	T	C54619932T	FAM151A	NM_176782.3(FAM151A):c.194G>A:p.Arg65Gln	coding	Benign
1	54620003	A	G	A54620003G	FAM151A	NM_176782.3(FAM151A):c.123T>C:p.Cys41=	coding	Benign
1	54757851	G	C	G54757851C	PARS2	NM_152268.4(PARS2):c.1311C>G:p.Gly437=	coding	Benign
1	54758319	G	A	G54758319A	PARS2	NM_152268.4(PARS2):c.843C>T:p.Asn281=	coding	Benign
1	54758458	T	C	T54758458C	PARS2	NM_152268.4(PARS2):c.704A>G:p.Asn235Ser	coding	Benign
1	54758673	C	T	C54758673T	PARS2	NM_152268.4(PARS2):c.489G>A:p.Thr163=	coding	Benign/Likely_benign
1	54759078	C	A	C54759078A	PARS2	NM_152268.4(PARS2):c.84G>T:p.Arg28Ser	coding	Benign
1	54759100	A	C	A54759100C	PARS2	NM_152268.4(PARS2):c.62T>G:p.Leu21Arg	coding	Benign
1	54759406	T	C	T54759406C	PARS2	NM_152268.4(PARS2):c.-29-216A>G	noncoding	Benign
1	54759416	C	T	C54759416T	PARS2	NM_152268.4(PARS2):c.-29-226G>A	noncoding	Benign
1	54849678	T	C	T54849678C	DHCR24	NM_014762.4(DHCR24):c.*2555A>G	noncoding	Benign
1	54849938	C	G	C54849938G	DHCR24	NM_014762.4(DHCR24):c.*2295G>C	noncoding	Benign
1	54850268	G	T	G54850268T	DHCR24	NM_014762.4(DHCR24):c.*1965C>A	noncoding	Benign
1	54850409	A	C	A54850409C	DHCR24	NM_014762.4(DHCR24):c.*1824T>G	noncoding	Benign
1	54850556	A	G	A54850556G	DHCR24	NM_014762.4(DHCR24):c.*1677T>C	noncoding	Benign
1	54850649	A	G	A54850649G	DHCR24	NM_014762.4(DHCR24):c.*1584T>C	noncoding	Benign
1	54850745	G	A	G54850745A	DHCR24	NM_014762.4(DHCR24):c.*1488C>T	noncoding	Benign
1	54851320	G	A	G54851320A	DHCR24	NM_014762.4(DHCR24):c.*913C>T	noncoding	Benign
1	54851445	T	C	T54851445C	DHCR24	NM_014762.4(DHCR24):c.*788A>G	noncoding	Benign
1	54851580	C	T	C54851580T	DHCR24	NM_014762.4(DHCR24):c.*653G>A	noncoding	Benign
1	54851771	C	T	C54851771T	DHCR24	NM_014762.4(DHCR24):c.*462G>A	noncoding	Benign
1	54851909	A	G	A54851909G	DHCR24	NM_014762.4(DHCR24):c.*324T>C	noncoding	Benign
1	54852012	G	A	G54852012A	DHCR24	NM_014762.4(DHCR24):c.*221C>T	noncoding	Benign
1	54852118	G	A	G54852118A	DHCR24	NM_014762.4(DHCR24):c.*115C>T	noncoding	Benign
1	54852262	C	T	C54852262T	DHCR24	NM_014762.4(DHCR24):c.1522G>A:p.Asp508Asn	coding	Benign
1	54852346	C	T	C54852346T	DHCR24	NM_014762.4(DHCR24):c.1438G>A:p.Glu480Lys	coding	Pathogenic
1	54852372	T	G	T54852372G	DHCR24	NM_014762.4(DHCR24):c.1412A>C:p.Tyr471Ser	coding	Pathogenic
1	54853526	G	A	G54853526A	DHCR24	NM_014762.4(DHCR24):c.1305C>T:p.Ile435=	coding	Benign
1	54854169	C	T	C54854169T	DHCR24	NM_014762.4(DHCR24):c.1086G>A:p.Lys362=	coding	Benign
1	54854229	A	G	A54854229G	DHCR24	NM_014762.4(DHCR24):c.1026T>C:p.Ile342=	coding	Benign
1	54865293	T	C	T54865293C	DHCR24	NM_014762.4(DHCR24):c.1020+10A>G	noncoding	Benign
1	54871587	G	A	G54871587A	DHCR24	NM_014762.4(DHCR24):c.639C>T:p.Ala213=	coding	Benign/Likely_benign
1	54883645	G	A	G54883645A	DHCR24	NM_014762.4(DHCR24):c.360C>T:p.Asp120=	coding	Benign
1	54883698	G	A	G54883698A	DHCR24	NM_014762.4(DHCR24):c.307C>T:p.Arg103Cys	coding	Pathogenic
1	54883724	C	T	C54883724T	DHCR24	NM_014762.4(DHCR24):c.281G>A:p.Arg94His	coding	Pathogenic
1	54886940	G	A	G54886940A	DHCR24	NM_014762.4(DHCR24):c.180C>T:p.Leu60=	coding	Benign
1	54887039	G	A	G54887039A	DHCR24	NM_014762.4(DHCR24):c.81C>T:p.Leu27=	coding	Benign/Likely_benign
1	54887170	C	A	C54887170A	DHCR24	NM_014762.4(DHCR24):c.-51G>T	noncoding	Benign
1	54998946	G	A	G54998946A	BSND	NM_057176.3(BSND):c.-241G>A	noncoding	Benign
1	54999031	G	C	G54999031C	BSND	NM_057176.3(BSND):c.-156G>C	noncoding	Benign
1	54999070	T	C	T54999070C	BSND	NM_057176.3(BSND):c.-117T>C	noncoding	Benign
1	54999117	C	G	C54999117G	BSND	NM_057176.3(BSND):c.-70C>G	noncoding	Benign
1	54999162	C	T	C54999162T	BSND	NM_057176.3(BSND):c.-25C>T	noncoding	Benign/Likely_benign
1	54999187	A	T	A54999187T	BSND	NM_057176.3(BSND):c.1A>T:p.Met1Leu	coding	Pathogenic
1	54999189	G	A	G54999189A	BSND	NM_057176.3(BSND):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
1	54999196	G	T	G54999196T	BSND	NM_057176.3(BSND):c.10G>T:p.Glu4Ter	coding	Pathogenic
1	54999209	G	T	G54999209T	BSND	NM_057176.3(BSND):c.23G>T:p.Arg8Leu	coding	Pathogenic
1	54999214	G	A	G54999214A	BSND	NM_057176.3(BSND):c.28G>A:p.Gly10Ser	coding	Pathogenic
1	54999249	C	T	C54999249T	BSND	NM_057176.3(BSND):c.63C>T:p.Leu21=	coding	Benign/Likely_benign
1	54999313	G	A	G54999313A	BSND	NM_057176.3(BSND):c.127G>A:p.Val43Ile	coding	Benign
1	54999325	G	A	G54999325A	BSND	NM_057176.3(BSND):c.139G>A:p.Gly47Arg	coding	Pathogenic
1	54999327	G	C	G54999327C	BSND	NM_057176.3(BSND):c.141G>C:p.Gly47=	coding	Benign
1	54999374	G	A	G54999374A	BSND	NM_057176.3(BSND):c.177+11G>A	noncoding	Benign
1	55005033	C	T	C55005033T	BSND	NM_057176.3(BSND):c.189C>T:p.Val63=	coding	Benign/Likely_benign
1	55005081	C	T	C55005081T	BSND	NM_057176.3(BSND):c.237C>T:p.Gly79=	coding	Benign
1	55005106	G	T	G55005106T	BSND	NM_057176.3(BSND):c.262G>T:p.Glu88Ter	coding	Pathogenic
1	55005136	G	A	G55005136A	BSND	NM_057176.3(BSND):c.272+20G>A	noncoding	Benign
1	55005149	T	G	T55005149G	BSND	NM_057176.3(BSND):c.272+33T>G	noncoding	Benign
1	55007029	G	A	G55007029A	BSND	NM_057176.3(BSND):c.305G>A:p.Trp102Ter	coding	Pathogenic
1	55007183	C	T	C55007183T	BSND	NM_057176.3(BSND):c.459C>T:p.Asp153=	coding	Benign/Likely_benign
1	55007194	G	A	G55007194A	BSND	NM_057176.3(BSND):c.470G>A:p.Trp157Ter	coding	Pathogenic
1	55008262	T	C	T55008262C	BSND	NM_057176.3(BSND):c.597T>C:p.Asp199=	coding	Benign
1	55008589	G	A	G55008589A	BSND	NM_057176.3(BSND):c.924G>A:p.Pro308=	coding	Benign
1	55008652	A	C	A55008652C	BSND	NM_057176.3(BSND):c.*24A>C	noncoding	Benign
1	55008722	A	G	A55008722G	BSND	NM_057176.3(BSND):c.*94A>G	noncoding	Benign
1	55008803	C	G	C55008803G	BSND	NM_057176.3(BSND):c.*175C>G	noncoding	Benign
1	55038977	G	A	G55038977A	PCSK9	NM_174936.3(PCSK9):c.-861G>A	noncoding	Benign
1	55039551	G	A	G55039551A	PCSK9	NM_174936.3(PCSK9):c.-287G>A	noncoding	Benign/Likely_benign
1	55039670	C	A	C55039670A	PCSK9	NM_174936.3(PCSK9):c.-168C>A	noncoding	Benign
1	55039774	C	T	C55039774T	PCSK9	NM_174936.3(PCSK9):c.-64C>T	noncoding	Benign
1	55039812	G	A	G55039812A	PCSK9	NM_174936.3(PCSK9):c.-26G>A	noncoding	Benign/Likely_benign
1	55039913	G	A	G55039913A	PCSK9	NM_174936.3(PCSK9):c.76G>A:p.Ala26Thr	coding	Pathogenic
1	55039974	G	T	G55039974T	PCSK9	NM_174936.3(PCSK9):c.137G>T:p.Arg46Leu	coding	Benign/Likely_benign
1	55039977	C	G	C55039977G	PCSK9	NM_174936.3(PCSK9):c.140C>G:p.Ser47Cys	coding	Pathogenic
1	55039995	C	T	C55039995T	PCSK9	NM_174936.3(PCSK9):c.158C>T:p.Ala53Val	coding	Benign/Likely_benign
1	55040049	G	A	G55040049A	PCSK9	NM_174936.3(PCSK9):c.207+5G>A	noncoding	Pathogenic
1	55040059	A	G	A55040059G	PCSK9	NM_174936.3(PCSK9):c.207+15A>G	noncoding	Benign
1	55040253	C	T	C55040253T	PCSK9	NM_174936.3(PCSK9):c.207+209C>T	coding	Benign
1	55043860	T	C	T55043860C	PCSK9	NM_174936.3(PCSK9):c.225T>C:p.Pro75=	coding	Benign
1	55043883	A	C	A55043883C	PCSK9	NM_174936.3(PCSK9):c.248A>C:p.Lys83Thr	coding	Pathogenic
1	55043885	G	A	G55043885A	PCSK9	NM_174936.3(PCSK9):c.250G>A:p.Glu84Lys	coding	Benign
1	55043958	T	C	T55043958C	PCSK9	NM_174936.3(PCSK9):c.323T>C:p.Leu108Pro	coding	Pathogenic
1	55043958	T	G	T55043958G	PCSK9	NM_174936.3(PCSK9):c.323T>G:p.Leu108Arg	coding	Pathogenic/Likely_pathogenic
1	55043971	G	A	G55043971A	PCSK9	NM_174936.3(PCSK9):c.336G>A:p.Leu112=	coding	Benign/Likely_benign
1	55043976	T	C	T55043976C	PCSK9	NM_174936.3(PCSK9):c.341T>C:p.Val114Ala	coding	Benign
1	55044016	T	A	T55044016A	PCSK9	NM_174936.3(PCSK9):c.381T>A:p.Ser127Arg	coding	Pathogenic/Likely_pathogenic
1	55044019	C	T	C55044019T	PCSK9	NM_174936.3(PCSK9):c.384C>T:p.Gly128=	coding	Benign/Likely_benign
1	55052267	G	A	G55052267A	PCSK9	NM_174936.3(PCSK9):c.524-11G>A	noncoding	Benign
1	55052279	C	T	C55052279T	PCSK9	NM_174936.3(PCSK9):c.525C>T:p.Asp175=	coding	Benign/Likely_benign
1	55052400	T	C	T55052400C	PCSK9	NM_174936.3(PCSK9):c.646T>C:p.Phe216Leu	coding	Pathogenic
1	55052418	A	C	A55052418C	PCSK9	NM_174936.3(PCSK9):c.657+7A>C	noncoding	Benign
1	55052487	C	A	C55052487A	PCSK9	NM_174936.3(PCSK9):c.657+76C>A	noncoding	Benign
1	55052493	G	A	G55052493A	PCSK9	NM_174936.3(PCSK9):c.657+82G>A	noncoding	Benign
1	55052525	C	A	C55052525A	PCSK9	NM_174936.3(PCSK9):c.657+114C>A	noncoding	Benign
1	55052643	C	T	C55052643T	PCSK9	NM_174936.3(PCSK9):c.658-7C>T	noncoding	Benign
1	55052644	G	T	G55052644T	PCSK9	NM_174936.3(PCSK9):c.658-6G>T	noncoding	Pathogenic
1	55052749	C	T	C55052749T	PCSK9	NM_174936.3(PCSK9):c.757C>T:p.Leu253Phe	coding	Benign/Likely_benign
1	55052794	A	G	A55052794G	PCSK9	NM_174936.3(PCSK9):c.799+3A>G	noncoding	Benign
1	55052855	C	A	C55052855A	PCSK9	NM_174936.3(PCSK9):c.799+64C>A	noncoding	Benign
1	55056186	C	T	C55056186T	PCSK9	NM_174936.3(PCSK9):c.993C>T:p.Pro331=	coding	Benign/Likely_benign
1	55057454	G	C	G55057454C	PCSK9	NM_174936.3(PCSK9):c.1120G>C:p.Asp374His	coding	Pathogenic
1	55057454	G	T	G55057454T	PCSK9	NM_174936.3(PCSK9):c.1120G>T:p.Asp374Tyr	coding	Pathogenic/Likely_pathogenic
1	55057508	G	A	G55057508A	PCSK9	NM_174936.3(PCSK9):c.1174G>A:p.Val392Met	coding	Pathogenic
1	55058125	A	G	A55058125G	PCSK9	NM_174936.3(PCSK9):c.1270A>G:p.Ile424Val	coding	Benign/Likely_benign
1	55058181	C	T	C55058181T	PCSK9	NM_174936.3(PCSK9):c.1326C>T:p.Ala442=	coding	Benign/Likely_benign
1	55058443	C	T	C55058443T	PCSK9	NM_174936.3(PCSK9):c.1355-56C>T	noncoding	Benign
1	55058524	A	G	A55058524G	PCSK9	NM_174936.3(PCSK9):c.1380A>G:p.Val460=	coding	Benign
1	55058539	G	A	G55058539A	PCSK9	NM_174936.3(PCSK9):c.1395G>A:p.Ser465=	coding	Benign
1	55058546	A	G	A55058546G	PCSK9	NM_174936.3(PCSK9):c.1402A>G:p.Thr468Ala	coding	Pathogenic
1	55058555	G	T	G55058555T	PCSK9	NM_174936.3(PCSK9):c.1411G>T:p.Ala471Ser	coding	Pathogenic
1	55058564	G	A	G55058564A	PCSK9	NM_174936.3(PCSK9):c.1420G>A:p.Val474Ile	coding	Benign/Likely_benign
1	55058570	C	T	C55058570T	PCSK9	NM_174936.3(PCSK9):c.1426C>T:p.Arg476Cys	coding	Pathogenic
1	55058575	C	T	C55058575T	PCSK9	NM_174936.3(PCSK9):c.1431C>T:p.Cys477=	coding	Benign/Likely_benign
1	55058635	C	T	C55058635T	PCSK9	NM_174936.3(PCSK9):c.1491C>T:p.Gly497=	coding	Benign/Likely_benign
1	55058714	T	C	T55058714C	PCSK9	NM_174936.3(PCSK9):c.1503+67T>C	noncoding	Benign
1	55059470	C	T	C55059470T	PCSK9	NM_174936.3(PCSK9):c.1504-16C>T	noncoding	Benign
1	55059479	C	T	C55059479T	PCSK9	NM_174936.4(PCSK9):c.1504-7C>T	noncoding	Benign/Likely_benign
1	55059481	C	G	C55059481G	PCSK9	NM_174936.3(PCSK9):c.1504-5C>G	noncoding	Benign/Likely_benign
1	55059680	G	A	G55059680A	PCSK9	NM_174936.3(PCSK9):c.1681+17G>A	noncoding	Benign/Likely_benign
1	55059726	C	T	C55059726T	PCSK9	NM_174936.3(PCSK9):c.1681+63C>T	noncoding	Benign
1	55059727	G	A	G55059727A	PCSK9	NM_174936.3(PCSK9):c.1681+64G>A	noncoding	Benign
1	55061544	C	T	C55061544T	PCSK9	NM_174936.3(PCSK9):c.1851C>T:p.Ala617=	coding	Benign
1	55061567	C	G	C55061567G	PCSK9	NM_174936.3(PCSK9):c.1863+11C>G	noncoding	Benign
1	55063374	C	T	C55063374T	PCSK9	NM_174936.3(PCSK9):c.1869C>T:p.Thr623=	coding	Benign/Likely_benign
1	55063383	C	T	C55063383T	PCSK9	NM_174936.3(PCSK9):c.1878C>T:p.Cys626=	coding	Benign/Likely_benign
1	55063510	G	C	G55063510C	PCSK9	NM_174936.3(PCSK9):c.2005G>C:p.Glu669Gln	coding	Pathogenic
1	55063514	G	A	G55063514A	PCSK9	NM_174936.3(PCSK9):c.2009G>A:p.Gly670Glu	coding	Benign/Likely_benign
1	55063542	C	A	C55063542A	PCSK9	NM_174936.3(PCSK9):c.2037C>A:p.Cys679Ter	coding	Benign
1	55063849	C	T	C55063849T	PCSK9	NM_174936.4(PCSK9):c.*265C>T	noncoding	Benign/Likely_benign
1	55063929	C	T	C55063929T	PCSK9	NM_174936.3(PCSK9):c.*345C>T	noncoding	Benign
1	55063998	C	T	C55063998T	PCSK9	NM_174936.3(PCSK9):c.*414C>T	noncoding	Benign
1	55064028	G	C	G55064028C	PCSK9	NM_174936.3(PCSK9):c.*444G>C	noncoding	Benign
1	55064155	C	T	C55064155T	PCSK9	NM_174936.3(PCSK9):c.*571C>T	noncoding	Benign
1	55064198	C	T	C55064198T	PCSK9	NM_174936.3(PCSK9):c.*614C>T	noncoding	Benign
1	55064433	T	C	T55064433C	PCSK9	NM_174936.3(PCSK9):c.*849T>C	noncoding	Benign
1	55072819	G	A	G55072819A	USP24	NM_015306.3(USP24):c.7569C>T:p.His2523=	coding	Benign
1	55107318	C	T	C55107318T	USP24	NM_015306.3(USP24):c.4683G>A:p.Ala1561=	coding	Benign
1	55147003	G	A	G55147003A	USP24	NM_015306.3(USP24):c.2176C>T:p.Leu726=	coding	Benign
1	55148472	C	T	C55148472T	USP24	NM_015306.3(USP24):c.1959G>A:p.Lys653=	coding	Benign
1	55177985	T	C	T55177985C	USP24	NM_015306.3(USP24):c.472A>G:p.Thr158Ala	coding	Benign
1	56674374	T	C	T56674374C	PRKAA2	NM_006252.4(PRKAA2):c.95-7T>C	noncoding	Benign
1	56703967	C	T	C56703967T	PRKAA2	NM_006252.4(PRKAA2):c.789-4C>T	noncoding	Benign
1	56704121	T	C	T56704121C	PRKAA2	NM_006252.4(PRKAA2):c.939T>C:p.Ser313=	coding	Benign
1	56706197	T	C	T56706197C	PRKAA2	NM_006252.4(PRKAA2):c.1399T>C:p.Leu467=	coding	Benign
1	56875054	C	A	C56875054A	C8A	NM_000562.3(C8A):c.277C>A:p.Gln93Lys	coding	Benign
1	56875101	G	A	G56875101A	C8A	NM_000562.3(C8A):c.316+8G>A	noncoding	Benign
1	56885938	C	T	C56885938T	C8A	NM_000562.3(C8A):c.867C>T:p.Phe289=	coding	Benign
1	56906790	C	T	C56906790T	C8A	NM_000562.3(C8A):c.1220C>T:p.Thr407Ile	coding	Benign
1	56908105	G	A	G56908105A	C8A	NM_000562.3(C8A):c.1372G>A:p.Asp458Asn	coding	Benign
1	56912446	C	G	C56912446G	C8A	NM_000562.3(C8A):c.1424C>G:p.Pro475Arg	coding	Benign
1	56912476	G	A	G56912476A	C8A	NM_000562.3(C8A):c.1454G>A:p.Arg485His	coding	Benign
1	56912476	G	T	G56912476T	C8A	NM_000562.3(C8A):c.1454G>T:p.Arg485Leu	coding	Benign
1	56912477	C	T	C56912477T	C8A	NM_000562.3(C8A):c.1455C>T:p.Arg485=	coding	Benign
1	56912525	T	C	T56912525C	C8A	NM_000562.3(C8A):c.1503T>C:p.Pro501=	coding	Benign
1	56917642	G	C	G56917642C	C8A	NM_000562.3(C8A):c.1681G>C:p.Glu561Gln	coding	Benign
1	56917704	G	T	G56917704T	C8A	NM_000562.3(C8A):c.1743G>T:p.Thr581=	coding	Benign
1	56940960	T	G	T56940960G	C8B	NM_000066.4(C8B):c.1287A>C:p.Gly429=	coding	Benign
1	56940965	G	A	G56940965A	C8B	NM_000066.4(C8B):c.1282C>T:p.Arg428Ter	coding	Pathogenic
1	56945852	G	A	G56945852A	C8B	NM_000066.4(C8B):c.1074C>T:p.Leu358=	coding	Benign
1	56949599	G	A	G56949599A	C8B	NM_000066.4(C8B):c.820C>T:p.Arg274Ter	coding	Pathogenic
1	56952108	C	T	C56952108T	C8B	NM_000066.4(C8B):c.606G>A:p.Pro202=	coding	Benign
1	56956884	G	A	G56956884A	C8B	NM_000066.4(C8B):c.276C>T:p.Pro92=	coding	Benign
1	56956889	G	A	G56956889A	C8B	NM_000066.4(C8B):c.271C>T:p.Gln91Ter	coding	Pathogenic
1	57010703	C	A	C57010703A	DAB1	NM_001365792.1(DAB1):c.1660G>T:p.Gly554Cys	coding	Benign
1	57010704	G	A	G57010704A	DAB1	NM_021080.5(DAB1):c.1659C>T:p.Ala553=	coding	Benign
1	57015223	G	A	G57015223A	DAB1	NM_021080.5(DAB1):c.1104C>T:p.Pro368=	coding	Benign
1	57069402	G	A	G57069402A	DAB1	NM_021080.5(DAB1):c.621C>T:p.His207=	coding	Benign
1	57072423	G	A	G57072423A	DAB1	NM_021080.5(DAB1):c.307-9C>T	noncoding	Benign
1	57136638	C	T	C57136638T	DAB1	NM_001365792.1(DAB1):c.211G>A:p.Val71Ile	coding	Benign
1	58481183	A	C	A58481183C	OMA1	NM_145243.5(OMA1):c.1366-9T>G	noncoding	Benign
1	58534040	G	A	G58534040A	OMA1	NM_145243.5(OMA1):c.924C>T:p.Phe308=	coding	Benign
1	58534181	T	C	T58534181C	OMA1	NM_145243.5(OMA1):c.880A>G:p.Ile294Val	coding	Benign
1	58536647	A	G	A58536647G	OMA1	NM_145243.5(OMA1):c.595T>C:p.Leu199=	coding	Benign
1	58539090	G	A	G58539090A	OMA1	NM_145243.5(OMA1):c.205C>T:p.His69Tyr	coding	Benign
1	58539094	G	T	G58539094T	OMA1	NM_145243.5(OMA1):c.201C>A:p.Asn67Lys	coding	Benign
1	58575548	C	T	C58575548T	TACSTD2	NM_002353.3(TACSTD2):c.*637G>A	noncoding	Benign
1	58575620	C	A	C58575620A	TACSTD2	NM_002353.3(TACSTD2):c.*565G>T	noncoding	Benign
1	58575764	T	C	T58575764C	TACSTD2	NM_002353.3(TACSTD2):c.*421A>G	noncoding	Benign
1	58575905	A	G	A58575905G	TACSTD2	NM_002353.3(TACSTD2):c.*280T>C	noncoding	Benign
1	58575959	G	T	G58575959T	TACSTD2	NM_002353.3(TACSTD2):c.*226C>A	noncoding	Benign
1	58575983	T	C	T58575983C	TACSTD2	NM_002353.3(TACSTD2):c.*202A>G	noncoding	Benign
1	58576019	G	A	G58576019A	TACSTD2	NM_002353.3(TACSTD2):c.*166C>T	noncoding	Benign
1	58576137	C	T	C58576137T	TACSTD2	NM_002353.3(TACSTD2):c.*48G>A	noncoding	Benign
1	58576258	C	T	C58576258T	TACSTD2	NM_002353.3(TACSTD2):c.899G>A:p.Arg300Gln	coding	Benign
1	58576268	T	C	T58576268C	TACSTD2	NM_002353.3(TACSTD2):c.889A>G:p.Ile297Val	coding	Benign
1	58576329	G	A	G58576329A	TACSTD2	NM_002353.3(TACSTD2):c.828C>T:p.Gly276=	coding	Benign
1	58576509	G	T	G58576509T	TACSTD2	NM_002353.3(TACSTD2):c.648C>A:p.Asp216Glu	coding	Benign
1	58576538	G	A	G58576538A	TACSTD2	NM_002353.3(TACSTD2):c.619C>T:p.Gln207Ter	coding	Pathogenic
1	58576600	A	G	A58576600G	TACSTD2	NM_002353.3(TACSTD2):c.557T>C:p.Leu186Pro	coding	Pathogenic
1	58576639	T	G	T58576639G	TACSTD2	NM_002353.3(TACSTD2):c.518A>C:p.Asp173Ala	coding	Benign
1	58576648	G	T	G58576648T	TACSTD2	NM_002353.3(TACSTD2):c.509C>A:p.Ser170Ter	coding	Pathogenic
1	58576716	C	G	C58576716G	TACSTD2	NM_002353.3(TACSTD2):c.441G>C:p.Glu147Asp	coding	Benign
1	58576802	A	T	A58576802T	TACSTD2	NM_002353.3(TACSTD2):c.355T>A:p.Cys119Ser	coding	Pathogenic
1	58576805	G	A	G58576805A	TACSTD2	NM_002353.3(TACSTD2):c.352C>T:p.Gln118Ter	coding	Pathogenic
1	58577210	T	G	T58577210G	TACSTD2	NM_002353.3(TACSTD2):c.-54A>C	noncoding	Benign
1	58577325	C	T	C58577325T	TACSTD2	NM_002353.2(TACSTD2):c.-169G>A	noncoding	Benign
1	58667102	T	C	T58667102C	MYSM1	NM_001085487.3(MYSM1):c.1967A>G:p.His656Arg	coding	Pathogenic
1	58667234	C	T	C58667234T	MYSM1	NM_001085487.3(MYSM1):c.1843-8G>A	noncoding	Benign
1	58673579	C	T	C58673579T	MYSM1	NM_001085487.3(MYSM1):c.1566G>A:p.Thr522=	coding	Benign
1	58675504	G	C	G58675504C	MYSM1	NM_001085487.3(MYSM1):c.1467C>G:p.Tyr489Ter	coding	Pathogenic
1	58676957	G	A	G58676957A	MYSM1	NM_001085487.3(MYSM1):c.1359C>T:p.Leu453=	coding	Benign
1	58681876	C	A	C58681876A	MYSM1	NM_001085487.3(MYSM1):c.1168G>T:p.Glu390Ter	coding	Pathogenic
1	58682127	T	G	T58682127G	MYSM1	NM_001085487.3(MYSM1):c.917A>C:p.Lys306Thr	coding	Benign
1	58682175	G	C	G58682175C	MYSM1	NM_001085487.3(MYSM1):c.869C>G:p.Ser290Ter	coding	Pathogenic
1	58689038	C	T	C58689038T	MYSM1	NM_001085487.3(MYSM1):c.399G>A:p.Leu133=	coding	Pathogenic
1	58782852	C	A	C58782852A	JUN	NM_002228.4(JUN):c.219G>T:p.Ser73=	coding	Benign
1	59893663	A	T	A59893663T	CYP2J2	NM_000775.4(CYP2J2):c.1497T>A:p.Val499=	coding	Benign
1	59916002	G	A	G59916002A	CYP2J2	NM_000775.4(CYP2J2):c.309C>T:p.His103=	coding	Benign
1	59990819	C	A	C59990819A	C1orf87	NM_152377.3(C1orf87):c.1495G>T:p.Glu499Ter	coding	Benign
1	61088147	A	G	A61088147G	NFIA	NM_001134673.4(NFIA):c.28-2A>G	noncoding	Pathogenic
1	61088191	C	T	C61088191T	NFIA	NM_001134673.4(NFIA):c.70C>T:p.Arg24Ter	coding	Pathogenic/Likely_pathogenic
1	61088341	C	T	C61088341T	NFIA	NM_001134673.4(NFIA):c.220C>T:p.Arg74Ter	coding	Pathogenic
1	61088376	C	T	C61088376T	NFIA	NM_001134673.4(NFIA):c.255C>T:p.Pro85=	coding	Benign
1	61088482	C	T	C61088482T	NFIA	NM_001134673.4(NFIA):c.361C>T:p.Arg121Cys	coding	Pathogenic
1	61277546	C	T	C61277546T	NFIA	NM_001134673.4(NFIA):c.586C>T:p.Gln196Ter	coding	Pathogenic
1	61404103	G	A	G61404103A	NFIA	NM_001134673.4(NFIA):c.1076-1G>A	noncoding	Pathogenic
1	61406556	C	T	C61406556T	NFIA	NM_001134673.4(NFIA):c.1255-6C>T	noncoding	Benign
1	61406577	C	T	C61406577T	NFIA	NM_001134673.4(NFIA):c.1270C>T:p.Gln424Ter	coding	Pathogenic
1	61455362	C	T	C61455362T	NFIA	NM_001134673.4(NFIA):c.*42C>T	coding	Benign/Likely_benign
1	61775343	A	G	A61775343G	PATJ	NM_001350145.3(PATJ):c.849+9A>G	noncoding	Benign
1	61787929	T	C	T61787929C	PATJ	NM_176877.4(PATJ):c.1025T>C:p.Leu342Ser	coding	Benign
1	61861632	G	C	G61861632C	PATJ	NM_176877.4(PATJ):c.2404G>C:p.Asp802His	coding	Benign
1	61864321	A	G	A61864321G	PATJ	NM_176877.4(PATJ):c.2523A>G:p.Gln841=	coding	Benign
1	61864462	G	A	G61864462A	PATJ	NM_176877.4(PATJ):c.2664G>A:p.Leu888=	coding	Benign
1	62017914	C	T	C62017914T	PATJ	NM_176877.4(PATJ):c.3926C>T:p.Thr1309Ile	coding	Benign
1	62079574	T	C	T62079574C	PATJ	NM_001350145.3(PATJ):c.4243+7T>C	noncoding	Benign
1	62128010	A	G	A62128010G	PATJ	NM_176877.4(PATJ):c.5082A>G:p.Gly1694=	coding	Benign
1	62128864	T	A	T62128864A	PATJ	NM_176877.4(PATJ):c.5190T>A:p.Ile1730=	coding	Benign
1	62273554	C	T	C62273554T	KANK4	NM_181712.5(KANK4):c.1550G>A:p.Arg517Lys	coding	Benign
1	62273875	G	A	G62273875A	KANK4	NM_181712.5(KANK4):c.1229C>T:p.Thr410Met	coding	Benign
1	62274247	G	A	G62274247A	KANK4	NM_181712.5(KANK4):c.857C>T:p.Pro286Leu	coding	Benign
1	62445230	C	T	C62445230T	USP1	NM_003368.5(USP1):c.1050C>T:p.Ser350=	coding	Benign
1	62450639	A	G	A62450639G	USP1	NM_003368.5(USP1):c.2016A>G:p.Gln672=	coding	Benign
1	62457653	C	A	C62457653A	DOCK7	NM_001367561.1(DOCK7):c.6265G>T:p.Glu2089Ter	coding	Pathogenic
1	62457663	C	T	C62457663T	DOCK7	NM_001367561.1(DOCK7):c.6255G>A:p.Pro2085=	coding	Benign
1	62475268	G	A	G62475268A	DOCK7	NM_001367561.1(DOCK7):c.6045C>T:p.Pro2015=	coding	Benign
1	62494430	A	G	A62494430G	DOCK7	NM_001367561.1(DOCK7):c.5062T>C:p.Leu1688=	coding	Benign
1	62504681	G	A	G62504681A	DOCK7	NM_001367561.1(DOCK7):c.4713C>T:p.His1571=	coding	Benign
1	62504698	C	T	C62504698T	DOCK7	NM_001367561.1(DOCK7):c.4696G>A:p.Gly1566Ser	coding	Benign/Likely_benign
1	62504726	C	T	C62504726T	DOCK7	NM_001367561.1(DOCK7):c.4668G>A:p.Arg1556=	coding	Benign
1	62510677	T	C	T62510677C	DOCK7	NM_001367561.1(DOCK7):c.4283-4A>G	noncoding	Benign
1	62513489	G	A	G62513489A	DOCK7	NM_001367561.1(DOCK7):c.4237C>T:p.Arg1413Ter	coding	Pathogenic
1	62513588	G	A	G62513588A	DOCK7	NM_001367561.1(DOCK7):c.4138C>T:p.Arg1380Ter	coding	Pathogenic
1	62513859	G	A	G62513859A	DOCK7	NM_001367561.1(DOCK7):c.3976C>T:p.Arg1326Ter	coding	Pathogenic
1	62529349	G	A	G62529349A	DOCK7	NM_001367561.1(DOCK7):c.3709C>T:p.Arg1237Ter	coding	Pathogenic
1	62535637	T	C	T62535637C	DOCK7	NM_001367561.1(DOCK7):c.3472-5A>G	noncoding	Benign
1	62552798	G	A	G62552798A	DOCK7	NM_001367561.1(DOCK7):c.2700C>T:p.Ser900=	coding	Benign
1	62555950	A	G	A62555950G	DOCK7	NM_001367561.1(DOCK7):c.2471T>C:p.Ile824Thr	coding	Benign
1	62597945	C	T	C62597945T	ANGPTL3	NM_014495.4(ANGPTL3):c.379C>T:p.Leu127Phe	coding	Benign/Likely_benign
1	62597951	G	T	G62597951T	ANGPTL3	NM_014495.4(ANGPTL3):c.385G>T:p.Glu129Ter	coding	Pathogenic
1	62601823	T	C	T62601823C	ANGPTL3	NM_014495.4(ANGPTL3):c.776T>C:p.Met259Thr	coding	Benign
1	62602332	T	C	T62602332C	ANGPTL3	NM_014495.4(ANGPTL3):c.883T>C:p.Phe295Leu	coding	Pathogenic
1	62604236	G	T	G62604236T	ANGPTL3	NM_014495.4(ANGPTL3):c.1198+1G>T	coding	Pathogenic
1	62619959	T	C	T62619959C	DOCK7	NM_001367561.1(DOCK7):c.1460A>G:p.Lys487Arg	coding	Benign
1	62625292	T	C	T62625292C	DOCK7	NM_001367561.1(DOCK7):c.1392A>G:p.Pro464=	coding	Benign
1	62625295	T	G	T62625295G	DOCK7	NM_001367561.1(DOCK7):c.1389A>C:p.Arg463=	coding	Benign
1	62625399	G	A	G62625399A	DOCK7	NM_001367561.1(DOCK7):c.1285C>T:p.Arg429Ter	coding	Pathogenic/Likely_pathogenic
1	62633567	G	A	G62633567A	DOCK7	NM_001367561.1(DOCK7):c.1047C>T:p.Val349=	coding	Benign/Likely_benign
1	62634825	G	C	G62634825C	DOCK7	NM_001367561.1(DOCK7):c.983C>G:p.Ser328Ter	coding	Pathogenic
1	62648297	T	C	T62648297C	DOCK7	NM_001367561.1(DOCK7):c.541A>G:p.Met181Val	coding	Benign
1	62648454	A	G	A62648454G	DOCK7	NM_001367561.1(DOCK7):c.480T>C:p.Ser160=	coding	Benign
1	62654023	C	T	C62654023T	DOCK7	NM_001367561.1(DOCK7):c.281G>A:p.Arg94Gln	coding	Benign
1	63323697	C	T	C63323697T	FOXD3	NM_012183.3(FOXD3):c.639C>T:p.Asn213=	coding	Benign
1	63370842	C	G	C63370842G	ALG6	NM_013339.4(ALG6):c.-136C>G	noncoding	Benign
1	63396602	G	A	G63396602A	ALG6	NM_013339.4(ALG6):c.167+5G>A	noncoding	Pathogenic
1	63402257	T	A	T63402257A	ALG6	NM_013339.4(ALG6):c.171T>A:p.Tyr57Ter	coding	Pathogenic/Likely_pathogenic
1	63402348	G	A	G63402348A	ALG6	NM_013339.4(ALG6):c.257+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	63404511	C	T	C63404511T	ALG6	NM_013339.4(ALG6):c.316C>T:p.Gln106Ter	coding	Pathogenic
1	63406361	T	C	T63406361C	ALG6	NM_013339.4(ALG6):c.391T>C:p.Tyr131His	coding	Benign/Likely_benign
1	63411329	G	T	G63411329T	ALG6	NM_013339.4(ALG6):c.678G>T:p.Lys226Asn	coding	Benign
1	63411333	T	G	T63411333G	ALG6	NM_013339.4(ALG6):c.680+2T>G	noncoding	Pathogenic
1	63411971	C	T	C63411971T	ALG6	NM_013339.4(ALG6):c.726C>T:p.Phe242=	coding	Benign
1	63411996	A	G	A63411996G	ALG6	NM_013339.4(ALG6):c.751A>G:p.Thr251Ala	coding	Benign/Likely_benign
1	63415881	C	T	C63415881T	ALG6	NM_013339.4(ALG6):c.911C>T:p.Ser304Phe	coding	Benign/Likely_benign
1	63415951	T	C	T63415951C	ALG6	NM_013339.4(ALG6):c.981T>C:p.Phe327=	coding	Benign
1	63419380	C	T	C63419380T	ALG6	NM_013339.4(ALG6):c.998C>T:p.Ala333Val	coding	Pathogenic
1	63429049	C	T	C63429049T	ALG6	NM_013339.4(ALG6):c.1249C>T:p.Gln417Ter	coding	Pathogenic
1	63429123	T	C	T63429123C	ALG6	NM_013339.4(ALG6):c.1323T>C:p.Tyr441=	coding	Benign/Likely_benign
1	63436837	C	T	C63436837T	ALG6	NM_013339.4(ALG6):c.1341C>T:p.Val447=	coding	Benign
1	63436853	C	G	C63436853G	ALG6	NM_013339.4(ALG6):c.1357C>G:p.Leu453Val	coding	Benign/Likely_benign
1	63436928	T	C	T63436928C	ALG6	NM_013339.4(ALG6):c.1432T>C:p.Ser478Pro	coding	Pathogenic
1	63436948	C	T	C63436948T	ALG6	NM_013339.4(ALG6):c.1452C>T:p.Phe484=	coding	Benign/Likely_benign
1	63437781	T	C	T63437781C	ALG6	NM_013339.4(ALG6):c.*761T>C	noncoding	Benign
1	63437864	T	C	T63437864C	ALG6	NM_013339.4(ALG6):c.*844T>C	noncoding	Benign
1	63438342	A	G	A63438342G	ALG6	NM_013339.4(ALG6):c.*1322A>G	noncoding	Benign
1	63533523	A	G	A63533523G	EFCAB7	NM_032437.4(EFCAB7):c.556A>G:p.Ser186Gly	coding	Benign
1	63571026	T	G	T63571026G	EFCAB7	NM_032437.4(EFCAB7):c.1713T>G:p.Asp571Glu	coding	Benign
1	63593506	A	G	A63593506G	PGM1	NM_002633.3(PGM1):c.18A>G:p.Thr6=	coding	Benign/Likely_benign
1	63593600	A	T	A63593600T	PGM1	NM_002633.3(PGM1):c.112A>T:p.Asn38Tyr	coding	Pathogenic
1	63593672	G	C	G63593672C	PGM1	NM_002633.3(PGM1):c.184G>C:p.Asp62His	coding	Pathogenic
1	63593973	C	G	C63593973G	PGM1	NM_002633.3(PGM1):c.246+239C>G	coding	Benign
1	63622980	A	G	A63622980G	PGM1	NM_002633.3(PGM1):c.247-6445A>G	noncoding	Benign
1	63623338	T	G	T63623338G	PGM1	NM_002633.3(PGM1):c.247-6087T>G	coding	Benign
1	63629109	G	A	G63629109A	PGM1	NM_002633.3(PGM1):c.247-316G>A	noncoding	Benign
1	63629371	G	T	G63629371T	PGM1	NM_002633.3(PGM1):c.247-54G>T	noncoding	Benign
1	63629440	A	G	A63629440G	PGM1	NM_002633.3(PGM1):c.262A>G:p.Ile88Val	coding	Benign/Likely_benign
1	63629521	A	G	A63629521G	PGM1	NM_002633.3(PGM1):c.343A>G:p.Thr115Ala	coding	Pathogenic
1	63629539	G	C	G63629539C	PGM1	NM_002633.3(PGM1):c.361G>C:p.Gly121Arg	coding	Pathogenic
1	63629577	T	C	T63629577C	PGM1	NM_002633.3(PGM1):c.399T>C:p.Ile133=	coding	Benign/Likely_benign
1	63630191	G	A	G63630191A	PGM1	NM_002633.3(PGM1):c.556+103G>A	noncoding	Benign
1	63631673	G	A	G63631673A	PGM1	NM_002633.3(PGM1):c.573G>A:p.Ser191=	coding	Benign/Likely_benign
1	63631749	C	T	C63631749T	PGM1	NM_002633.3(PGM1):c.649C>T:p.Arg217Ter	coding	Pathogenic
1	63631761	C	T	C63631761T	PGM1	NM_002633.3(PGM1):c.661C>T:p.Arg221Cys	coding	Benign/Likely_benign
1	63634807	A	T	A63634807T	PGM1	NM_002633.3(PGM1):c.683-22A>T	noncoding	Benign
1	63634933	G	T	G63634933T	PGM1	NM_002633.3(PGM1):c.787G>T:p.Asp263Tyr	coding	Pathogenic
1	63636347	C	T	C63636347T	PGM1	NM_002633.3(PGM1):c.987C>T:p.Arg329=	coding	Benign
1	63636443	A	G	A63636443G	PGM1	NM_002633.3(PGM1):c.1028+55A>G	noncoding	Benign
1	63638874	T	C	T63638874C	PGM1	NM_002633.3(PGM1):c.1144+74T>C	noncoding	Benign
1	63648510	C	G	C63648510G	PGM1	NM_002633.3(PGM1):c.1145-7C>G	noncoding	Benign/Likely_benign
1	63648516	G	C	G63648516C	PGM1	NM_002633.3(PGM1):c.1145-1G>C	noncoding	Pathogenic
1	63648630	T	C	T63648630C	PGM1	NM_002633.3(PGM1):c.1258T>C:p.Tyr420His	coding	Benign
1	63648659	C	T	C63648659T	PGM1	NM_002633.3(PGM1):c.1280+7C>T	noncoding	Benign/Likely_benign
1	63651866	G	T	G63651866T	PGM1	NM_002633.3(PGM1):c.1464+14G>T	noncoding	Benign
1	63654367	C	T	C63654367T	PGM1	NM_002633.3(PGM1):c.1500C>T:p.Ile500=	coding	Benign/Likely_benign
1	63654368	G	A	G63654368A	PGM1	NM_002633.3(PGM1):c.1501G>A:p.Val501Ile	coding	Benign/Likely_benign
1	63654374	C	T	C63654374T	PGM1	NM_002633.3(PGM1):c.1507C>T:p.Arg503Ter	coding	Pathogenic
1	63654414	T	C	T63654414C	PGM1	NM_002633.3(PGM1):c.1547T>C:p.Leu516Pro	coding	Pathogenic
1	63654475	C	T	C63654475T	PGM1	NM_002633.3(PGM1):c.1599+9C>T	noncoding	Benign/Likely_benign
1	63659308	G	T	G63659308T	PGM1	NM_002633.3(PGM1):c.1600-278G>T	noncoding	Benign
1	63659563	G	T	G63659563T	PGM1	NM_002633.3(PGM1):c.1600-23G>T	noncoding	Benign
1	63659697	C	T	C63659697T	PGM1	NM_002633.3(PGM1):c.*22C>T	noncoding	Benign/Likely_benign
1	63659805	C	T	C63659805T	PGM1	NM_002633.3(PGM1):c.*130C>T	noncoding	Benign/Likely_benign
1	64142520	C	T	C64142520T	ROR1	NM_005012.4(ROR1):c.1044C>T:p.Thr348=	coding	Benign
1	64142631	G	A	G64142631A	ROR1	NM_005012.4(ROR1):c.1155G>A:p.Leu385=	coding	Benign
1	64177595	G	A	G64177595A	ROR1	NM_005012.4(ROR1):c.1554G>A:p.Thr518=	coding	Benign
1	64177967	C	T	C64177967T	ROR1	NM_005012.4(ROR1):c.1926C>T:p.Ser642=	coding	Benign
1	64178111	C	A	C64178111A	ROR1	NM_005012.4(ROR1):c.2070C>A:p.Leu690=	coding	Benign
1	64178248	G	C	G64178248C	ROR1	NM_005012.4(ROR1):c.2207G>C:p.Arg736Thr	coding	Pathogenic
1	64834649	T	C	T64834649C	JAK1	NM_002227.4(JAK1):c.3378A>G:p.Gln1126=	coding	Benign
1	64837964	G	A	G64837964A	JAK1	NM_002227.4(JAK1):c.3108C>T:p.Thr1036=	coding	Benign
1	64837979	A	G	A64837979G	JAK1	NM_002227.4(JAK1):c.3093T>C:p.Asp1031=	coding	Benign
1	64845520	C	A	C64845520A	JAK1	NM_002227.4(JAK1):c.2108G>T:p.Ser703Ile	coding	Pathogenic
1	64869304	G	A	G64869304A	JAK1	NM_002227.4(JAK1):c.647+7C>T	noncoding	Benign
1	65366107	C	T	C65366107T	DNAJC6	NM_001256864.2(DNAJC6):c.454C>T:p.Arg152Ter	coding	Pathogenic
1	65366166	G	A	G65366166A	DNAJC6	NM_001256864.2(DNAJC6):c.513G>A:p.Lys171=	coding	Benign
1	65384204	G	A	G65384204A	DNAJC6	NM_001256864.2(DNAJC6):c.678G>A:p.Ala226=	coding	Benign
1	65384271	A	G	A65384271G	DNAJC6	NM_001256864.2(DNAJC6):c.745A>G:p.Ile249Val	coding	Benign
1	65385710	A	G	A65385710G	DNAJC6	NM_001256864.2(DNAJC6):c.801-2A>G	noncoding	Pathogenic
1	65385899	C	T	C65385899T	DNAJC6	NM_001256864.2(DNAJC6):c.988C>T:p.Arg330Ter	coding	Pathogenic
1	65386803	T	C	T65386803C	DNAJC6	NM_001256864.2(DNAJC6):c.996-9T>C	noncoding	Benign
1	65389328	A	T	A65389328T	DNAJC6	NM_001256864.2(DNAJC6):c.1266A>T:p.Leu422=	coding	Benign
1	65389382	A	T	A65389382T	DNAJC6	NM_001256864.2(DNAJC6):c.1320A>T:p.Thr440=	coding	Benign
1	65389615	C	T	C65389615T	DNAJC6	NM_001256864.2(DNAJC6):c.1456C>T:p.Leu486Phe	coding	Benign/Likely_benign
1	65392672	G	A	G65392672A	DNAJC6	NM_001256864.2(DNAJC6):c.1710G>A:p.Pro570=	coding	Benign
1	65401876	A	T	A65401876T	DNAJC6	NM_001256864.2(DNAJC6):c.2223A>T:p.Thr741=	coding	Pathogenic
1	65406052	C	T	C65406052T	DNAJC6	NM_001256864.2(DNAJC6):c.2410C>T:p.Gln804Ter	coding	Pathogenic
1	65406093	T	G	T65406093G	DNAJC6	NM_001256864.2(DNAJC6):c.2451T>G:p.Pro817=	coding	Benign
1	65408685	C	T	C65408685T	DNAJC6	NM_001256864.2(DNAJC6):c.2536C>T:p.Gln846Ter	coding	Pathogenic
1	65411394	A	G	A65411394G	DNAJC6	NM_001256864.2(DNAJC6):c.2779A>G:p.Arg927Gly	coding	Pathogenic
1	65420715	T	C	T65420715C	LEPR	NM_017526.5(LEPROT):c.-10T>C	noncoding	Benign
1	65570525	G	A	G65570525A	LEPR	NM_001003679.3(LEPR):c.93G>A:p.Trp31Ter	coding	Pathogenic/Likely_pathogenic
1	65570758	A	G	A65570758G	LEPR	NM_001003679.3(LEPR):c.326A>G:p.Lys109Arg	coding	Benign
1	65570818	G	T	G65570818T	LEPR	NM_001003679.3(LEPR):c.370+16G>T	noncoding	Benign
1	65572419	A	C	A65572419C	LEPR	NM_001003679.3(LEPR):c.464A>C:p.Tyr155Ser	coding	Pathogenic
1	65592830	A	G	A65592830G	LEPR	NM_001003679.3(LEPR):c.668A>G:p.Gln223Arg	coding	Benign
1	65601426	T	C	T65601426C	LEPR	NM_001003679.3(LEPR):c.1029T>C:p.Ser343=	coding	Benign/Likely_benign
1	65601702	G	A	G65601702A	LEPR	NM_002303.6(LEPR):c.1285+20G>A	noncoding	Benign
1	65610269	G	C	G65610269C	LEPR	NM_001003679.3(LEPR):c.1968G>C:p.Lys656Asn	coding	Benign/Likely_benign
1	65616108	C	T	C65616108T	LEPR	NM_001003679.3(LEPR):c.2096C>T:p.Thr699Met	coding	Benign
1	65618047	A	T	A65618047T	LEPR	NM_001003679.3(LEPR):c.2296A>T:p.Lys766Ter	coding	Pathogenic
1	65621459	G	A	G65621459A	LEPR	NM_002303.6(LEPR):c.2597+1G>A	coding	Pathogenic
1	65621473	G	C	G65621473C	LEPR	NM_002303.6(LEPR):c.2597+15G>C	noncoding	Benign/Likely_benign
1	65636475	C	T	C65636475T	LEPR	NM_002303.6(LEPR):c.2958C>T:p.Tyr986=	coding	Benign/Likely_benign
1	65636541	A	G	A65636541G	LEPR	NM_002303.6(LEPR):c.3024A>G:p.Ser1008=	coding	Benign/Likely_benign
1	65636574	G	A	G65636574A	LEPR	NM_002303.5(LEPR):c.3057G>A:p.Pro1019=	coding	Benign
1	66365723	C	T	C66365723T	PDE4B	NM_002600.4(PDE4B):c.1341C>T:p.Asp447=	coding	Benign
1	66368912	G	A	G66368912A	PDE4B	NM_002600.4(PDE4B):c.1788G>A:p.Arg596=	coding	Benign
1	66372393	C	T	C66372393T	PDE4B	NM_002600.4(PDE4B):c.1926C>T:p.Leu642=	coding	Benign
1	66372574	A	T	A66372574T	PDE4B	NM_002600.4(PDE4B):c.2107A>T:p.Ser703Cys	coding	Benign
1	66682344	G	A	G66682344A	SGIP1	NM_032291.4(SGIP1):c.1290G>A:p.Ser430=	coding	Benign
1	67009112	C	T	C67009112T	SLC35D1	NM_015139.3(SLC35D1):c.932G>A:p.Trp311Ter	coding	Pathogenic
1	67021610	A	G	A67021610G	SLC35D1	NM_015139.3(SLC35D1):c.730-8T>C	noncoding	Benign
1	67042293	T	G	T67042293G	SLC35D1	NM_015139.3(SLC35D1):c.672A>C:p.Ala224=	coding	Benign
1	67047264	C	A	C67047264A	SLC35D1	NM_015139.3(SLC35D1):c.636+1G>T	noncoding	Pathogenic
1	67052009	T	C	T67052009C	SLC35D1	NM_015139.3(SLC35D1):c.392+3A>G	noncoding	Pathogenic
1	67052776	G	A	G67052776A	SLC35D1	NM_015139.3(SLC35D1):c.319C>T:p.Arg107Ter	coding	Pathogenic
1	67053821	T	G	T67053821G	SLC35D1	NM_015139.3(SLC35D1):c.193A>C:p.Thr65Pro	coding	Pathogenic
1	67169523	A	C	A67169523C	IL23R	NM_144701.3(IL23R):c.252A>C:p.Thr84=	coding	Benign
1	67182840	G	A	G67182840A	IL23R	NM_144701.3(IL23R):c.372G>A:p.Pro124=	coding	Benign
1	67182942	C	T	C67182942T	IL23R	NM_144701.3(IL23R):c.474C>T:p.Tyr158=	coding	Benign
1	67206917	T	A	T67206917A	IL23R	NM_144701.3(IL23R):c.660T>A:p.Pro220=	coding	Benign
1	67206980	T	C	T67206980C	IL23R	NM_144701.3(IL23R):c.723T>C:p.Tyr241=	coding	Benign
1	67320405	A	G	A67320405G	IL12RB2	NM_001374259.2(IL12RB2):c.37A>G:p.Met13Val	coding	Benign
1	67321618	C	T	C67321618T	IL12RB2	NM_001374259.2(IL12RB2):c.93C>T:p.Gly31=	coding	Benign
1	67321639	C	G	C67321639G	IL12RB2	NM_001374259.2(IL12RB2):c.114C>G:p.Ser38=	coding	Benign
1	67326816	G	A	G67326816A	IL12RB2	NM_001374259.2(IL12RB2):c.446G>A:p.Arg149Gln	coding	Benign
1	67328273	A	G	A67328273G	IL12RB2	NM_001374259.2(IL12RB2):c.553A>G:p.Ile185Val	coding	Benign
1	67351018	C	T	C67351018T	IL12RB2	NM_001374259.2(IL12RB2):c.1187C>T:p.Ala396Val	coding	Benign
1	67351089	G	A	G67351089A	IL12RB2	NM_001374259.2(IL12RB2):c.1258G>A:p.Gly420Arg	coding	Benign
1	67372638	C	A	C67372638A	IL12RB2	NM_001374259.2(IL12RB2):c.1572C>A:p.Gly524=	coding	Benign
1	67386597	C	T	C67386597T	IL12RB2	NM_001374259.2(IL12RB2):c.1874C>T:p.Ala625Val	coding	Benign
1	67686488	G	A	G67686488A	GADD45A	NM_001924.4(GADD45A):c.285G>A:p.Pro95=	coding	Benign
1	68428861	G	C	G68428861C	RPE65	NM_000329.3(RPE65):c.*915C>G	noncoding	Benign
1	68429165	C	T	C68429165T	RPE65	NM_000329.3(RPE65):c.*611G>A	noncoding	Benign
1	68429245	T	C	T68429245C	RPE65	NM_000329.3(RPE65):c.*531A>G	noncoding	Benign
1	68429795	C	A	C68429795A	RPE65	NM_000329.3(RPE65):c.1583G>T:p.Gly528Val	coding	Pathogenic
1	68429927	C	A	C68429927A	RPE65	NM_000329.3(RPE65):c.1451G>T:p.Gly484Val	coding	Pathogenic
1	68431131	C	A	C68431131A	RPE65	NM_000329.3(RPE65):c.1384G>T:p.Glu462Ter	coding	Pathogenic
1	68431135	C	T	C68431135T	RPE65	NM_000329.3(RPE65):c.1380G>A:p.Trp460Ter	coding	Pathogenic/Likely_pathogenic
1	68431160	A	C	A68431160C	RPE65	NM_000329.3(RPE65):c.1355T>G:p.Val452Gly	coding	Pathogenic
1	68431262	T	G	T68431262G	RPE65	NM_000329.3(RPE65):c.1338+20A>C	noncoding	Benign
1	68431281	C	T	C68431281T	RPE65	NM_000329.3(RPE65):c.1338+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	68431282	C	A	C68431282A	RPE65	NM_000329.3(RPE65):c.1338G>T:p.Arg446Ser	coding	Pathogenic/Likely_pathogenic
1	68431318	C	G	C68431318G	RPE65	NM_000329.3(RPE65):c.1302G>C:p.Ala434=	coding	Benign/Likely_benign
1	68431318	C	T	C68431318T	RPE65	NM_000329.3(RPE65):c.1302G>A:p.Ala434=	coding	Benign/Likely_benign
1	68431319	G	A	G68431319A	RPE65	NM_000329.3(RPE65):c.1301C>T:p.Ala434Val	coding	Benign
1	68431328	T	C	T68431328C	RPE65	NM_000329.3(RPE65):c.1292A>G:p.Tyr431Cys	coding	Pathogenic
1	68431381	G	A	G68431381A	RPE65	NM_000329.3(RPE65):c.1244-5C>T	noncoding	Benign
1	68431509	C	T	C68431509T	RPE65	NM_000329.3(RPE65):c.1205G>A:p.Trp402Ter	coding	Pathogenic/Likely_pathogenic
1	68431559	C	T	C68431559T	RPE65	NM_000329.3(RPE65):c.1155G>A:p.Thr385=	coding	Benign/Likely_benign
1	68431587	T	C	T68431587C	RPE65	NM_000329.3(RPE65):c.1129-2A>G	noncoding	Pathogenic
1	68438213	A	G	A68438213G	RPE65	NM_000329.3(RPE65):c.1102T>C:p.Tyr368His	coding	Pathogenic
1	68438214	T	C	T68438214C	RPE65	NM_000329.3(RPE65):c.1101A>G:p.Arg367=	coding	Pathogenic
1	68438228	G	T	G68438228T	RPE65	NM_000329.3(RPE65):c.1087C>A:p.Pro363Thr	coding	Pathogenic
1	68438231	G	A	G68438231A	RPE65	NM_000329.3(RPE65):c.1084C>T:p.Gln362Ter	coding	Pathogenic
1	68438259	C	T	C68438259T	RPE65	NM_000329.3(RPE65):c.1056G>A:p.Glu352=	coding	Benign
1	68438293	A	G	A68438293G	RPE65	NM_000329.3(RPE65):c.1022T>C:p.Leu341Ser	coding	Pathogenic
1	68438947	C	T	C68438947T	RPE65	NM_000329.3(RPE65):c.993G>A:p.Trp331Ter	coding	Pathogenic
1	68439033	T	A	T68439033A	RPE65	NM_000329.3(RPE65):c.907A>T:p.Lys303Ter	coding	Pathogenic
1	68439059	T	G	T68439059G	RPE65	NM_000329.3(RPE65):c.881A>C:p.Lys294Thr	coding	Benign/Likely_benign
1	68439190	C	T	C68439190T	RPE65	NM_000329.3(RPE65):c.858+1G>A	noncoding	Pathogenic
1	68439224	G	C	G68439224C	RPE65	NM_000329.3(RPE65):c.825C>G:p.Tyr275Ter	coding	Pathogenic
1	68439303	T	C	T68439303C	RPE65	NM_000329.3(RPE65):c.746A>G:p.Tyr249Cys	coding	Pathogenic
1	68439564	T	A	T68439564A	RPE65	NM_000329.3(RPE65):c.722A>T:p.His241Leu	coding	Pathogenic
1	68439571	A	C	A68439571C	RPE65	NM_000329.3(RPE65):c.715T>G:p.Tyr239Asp	coding	Pathogenic
1	68439580	T	A	T68439580A	RPE65	NM_000329.3(RPE65):c.706A>T:p.Lys236Ter	coding	Pathogenic
1	68439586	G	A	G68439586A	RPE65	NM_000329.3(RPE65):c.700C>T:p.Arg234Ter	coding	Pathogenic
1	68439611	G	C	G68439611C	RPE65	NM_000329.3(RPE65):c.675C>G:p.Ile225Met	coding	Benign/Likely_benign
1	68439675	G	C	G68439675C	RPE65	NM_000329.3(RPE65):c.644-33C>G	noncoding	Benign
1	68440831	G	A	G68440831A	RPE65	NM_000329.3(RPE65):c.643+22C>T	noncoding	Benign
1	68440911	G	A	G68440911A	RPE65	NM_000329.3(RPE65):c.585C>T:p.Cys195=	coding	Benign
1	68440936	C	T	C68440936T	RPE65	NM_000329.3(RPE65):c.560G>A:p.Gly187Glu	coding	Pathogenic/Likely_pathogenic
1	68440952	G	A	G68440952A	RPE65	NM_000329.3(RPE65):c.544C>T:p.His182Tyr	coding	Pathogenic
1	68440981	A	T	A68440981T	RPE65	NM_000329.3(RPE65):c.515T>A:p.Val172Asp	coding	Pathogenic
1	68440989	G	T	G68440989T	RPE65	NM_000329.3(RPE65):c.507C>A:p.Cys169Ter	coding	Pathogenic
1	68444605	C	A	C68444605A	RPE65	NM_000329.3(RPE65):c.421G>T:p.Glu141Ter	coding	Pathogenic
1	68444607	C	T	C68444607T	RPE65	NM_000329.3(RPE65):c.419G>A:p.Gly140Glu	coding	Pathogenic/Likely_pathogenic
1	68444656	G	A	G68444656A	RPE65	NM_000329.3(RPE65):c.370C>T:p.Arg124Ter	coding	Pathogenic
1	68444819	C	G	C68444819G	RPE65	NM_000329.3(RPE65):c.310G>C:p.Gly104Arg	coding	Pathogenic
1	68444825	C	A	C68444825A	RPE65	NM_000329.3(RPE65):c.304G>T:p.Glu102Ter	coding	Pathogenic
1	68444857	C	T	C68444857T	RPE65	NM_000329.3(RPE65):c.272G>A:p.Arg91Gln	coding	Pathogenic
1	68444858	G	A	G68444858A	RPE65	NM_000329.3(RPE65):c.271C>T:p.Arg91Trp	coding	Pathogenic
1	68444894	T	C	T68444894C	RPE65	NM_000329.3(RPE65):c.246-11A>G	noncoding	Pathogenic
1	68446728	T	G	T68446728G	RPE65	NM_000329.3(RPE65):c.227A>C:p.His76Pro	coding	Pathogenic
1	68446765	G	A	G68446765A	RPE65	NM_000329.3(RPE65):c.190C>T:p.Gln64Ter	coding	Pathogenic
1	68446824	C	T	C68446824T	RPE65	NM_000329.3(RPE65):c.131G>A:p.Arg44Gln	coding	Pathogenic
1	68446825	G	A	G68446825A	RPE65	NM_000329.3(RPE65):c.130C>T:p.Arg44Ter	coding	Pathogenic/Likely_pathogenic
1	68446837	C	T	C68446837T	RPE65	NM_000329.3(RPE65):c.118G>A:p.Gly40Ser	coding	Pathogenic
1	68446862	T	A	T68446862A	RPE65	NM_000329.3(RPE65):c.95-2A>T	noncoding	Pathogenic
1	68448653	A	G	A68448653G	RPE65	NM_000329.3(RPE65):c.65T>C:p.Leu22Pro	coding	Pathogenic
1	68449890	C	T	C68449890T	RPE65	NM_000329.3(RPE65):c.11+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	68476933	T	C	T68476933C	DEPDC1	NM_001114120.3(DEPDC1):c.2435A>G:p.Ter812=	coding	Benign
1	68481450	G	A	G68481450A	DEPDC1	NM_001114120.3(DEPDC1):c.1925C>T:p.Thr642Met	coding	Benign
1	70430388	C	G	C70430388G	CTH	NM_001902.6(CTH):c.718C>G:p.Gln240Glu	coding	Pathogenic
1	70439117	G	T	G70439117T	CTH	NM_001902.6(CTH):c.1208G>T:p.Ser403Ile	coding	Benign
1	70439650	A	T	A70439650T	CTH	NM_001902.6(CTH):c.*523A>T	noncoding	Benign
1	71047467	G	C	G71047467C	PTGER3	NM_198714.2(PTGER3):c.111C>G:p.Leu37=	coding	Benign
1	71407536	G	A	G71407536A	NEGR1	NM_173808.3(NEGR1):c.975C>T:p.Ser325=	coding	Benign
1	71611112	G	T	G71611112T	NEGR1	NM_173808.3(NEGR1):c.702C>A:p.Thr234=	coding	Benign
1	72282401	G	C	G72282401C	NEGR1	NM_173808.3(NEGR1):c.94C>G:p.Leu32Val	coding	Benign
1	74041482	T	G	T74041482G	LRRIQ3	NM_001105659.2(LRRIQ3):c.1449A>C:p.Leu483Phe	coding	Benign
1	74041739	T	C	T74041739C	LRRIQ3	NM_001105659.2(LRRIQ3):c.1192A>G:p.Ile398Val	coding	Benign
1	74074781	A	G	A74074781G	LRRIQ3	NM_001105659.2(LRRIQ3):c.877T>C:p.Tyr293His	coding	Benign
1	74250759	C	T	C74250759T	TNNI3K	NM_015978.3(TNNI3K):c.323C>T:p.Ala108Val	coding	Benign
1	74250771	T	C	T74250771C	TNNI3K	NM_015978.3(TNNI3K):c.333+2T>C	noncoding	Pathogenic
1	74271590	C	T	C74271590T	TNNI3K	NM_015978.3(TNNI3K):c.334-8C>T	noncoding	Benign
1	74342921	G	T	G74342921T	TNNI3K	NM_015978.3(TNNI3K):c.762G>T:p.Leu254=	coding	Benign
1	74342947	C	T	C74342947T	TNNI3K	NM_015978.3(TNNI3K):c.788C>T:p.Pro263Leu	coding	Benign
1	74369495	G	A	G74369495A	TNNI3K	NM_015978.3(TNNI3K):c.1577G>A:p.Gly526Asp	coding	Pathogenic
1	74369538	A	G	A74369538G	TNNI3K	NM_015978.3(TNNI3K):c.1620A>G:p.Gln540=	coding	Benign
1	74436536	T	C	T74436536C	TNNI3K	NM_015978.3(TNNI3K):c.1878+10T>C	noncoding	Benign
1	74439521	C	T	C74439521T	TNNI3K	NM_015978.3(TNNI3K):c.1910C>T:p.Thr637Met	coding	Benign
1	74706373	A	G	A74706373G	CRYZ	NM_001889.4(CRYZ):c.913T>C:p.Leu305=	coding	Benign
1	74710181	C	T	C74710181T	CRYZ	NM_001889.4(CRYZ):c.547G>A:p.Glu183Lys	coding	Benign
1	75137116	C	T	C75137116T	LHX8	NM_001001933.1(LHX8):c.122C>T:p.Ala41Val	coding	Benign
1	75143169	C	T	C75143169T	LHX8	NM_001001933.1(LHX8):c.441C>T:p.Asp147=	coding	Benign
1	75156895	G	T	G75156895T	LHX8	NM_001001933.1(LHX8):c.813G>T:p.Val271=	coding	Benign
1	75724060	C	G	C75724060G	ACADM	NC_000001.11:g.75724060C>G	noncoding	Benign
1	75724352	C	G	C75724352G	ACADM	NM_000016.5(ACADM):c.-436C>G	noncoding	Benign
1	75724754	T	C	T75724754C	ACADM	NM_000016.5(ACADM):c.-34T>C	noncoding	Benign
1	75724884	C	G	C75724884G	ACADM	NM_000016.5(ACADM):c.30+67C>G	noncoding	Benign
1	75728328	T	C	T75728328C	ACADM	NM_000016.5(ACADM):c.31-73T>C	noncoding	Benign
1	75728364	C	T	C75728364T	ACADM	NM_000016.5(ACADM):c.31-37C>T	noncoding	Benign
1	75728369	C	G	C75728369G	ACADM	NM_000016.5(ACADM):c.31-32C>G	noncoding	Benign
1	75728437	C	T	C75728437T	ACADM	NM_000016.5(ACADM):c.67C>T:p.Gln23Ter	coding	Pathogenic
1	75728455	C	T	C75728455T	ACADM	NM_000016.6(ACADM):c.85C>T:p.Arg29Ter	coding	Pathogenic
1	75728474	T	G	T75728474G	ACADM	NM_000016.6(ACADM):c.104T>G:p.Leu35Ter	coding	Pathogenic
1	75728506	T	A	T75728506A	ACADM	NM_000016.5(ACADM):c.118+18T>A	noncoding	Benign/Likely_benign
1	75728602	A	G	A75728602G	ACADM	NM_000016.5(ACADM):c.118+114A>G	noncoding	Benign
1	75732348	A	G	A75732348G	ACADM	NM_000016.5(ACADM):c.119-296A>G	noncoding	Benign
1	75732624	T	C	T75732624C	ACADM	NM_000016.5(ACADM):c.119-20T>C	noncoding	Benign
1	75732682	C	T	C75732682T	ACADM	NM_000016.5(ACADM):c.157C>T:p.Arg53Cys	coding	Pathogenic
1	75732724	T	C	T75732724C	ACADM	NM_000016.6(ACADM):c.199T>C:p.Tyr67His	coding	Pathogenic/Likely_pathogenic
1	75732726	T	A	T75732726A	ACADM	NM_000016.6(ACADM):c.201T>A:p.Tyr67Ter	coding	Pathogenic/Likely_pathogenic
1	75732743	T	C	T75732743C	ACADM	NM_000016.6(ACADM):c.216+2T>C	noncoding	Pathogenic
1	75732743	T	G	T75732743G	ACADM	NM_000016.5(ACADM):c.216+2T>G	noncoding	Pathogenic
1	75732751	T	C	T75732751C	ACADM	NM_000016.5(ACADM):c.216+10T>C	noncoding	Benign
1	75732852	G	A	G75732852A	ACADM	NM_000016.5(ACADM):c.217-1G>A	noncoding	Pathogenic
1	75732869	T	C	T75732869C	ACADM	NM_000016.5(ACADM):c.233T>C:p.Ile78Thr	coding	Pathogenic
1	75732886	C	T	C75732886T	ACADM	NM_000016.5(ACADM):c.250C>T:p.Leu84Phe	coding	Pathogenic/Likely_pathogenic
1	75733100	G	A	G75733100A	ACADM	NM_000016.5(ACADM):c.286+178G>A	coding	Benign
1	75733527	G	C	G75733527C	ACADM	NM_000016.5(ACADM):c.287-1G>C	noncoding	Pathogenic
1	75733588	G	A	G75733588A	ACADM	NM_000016.5(ACADM):c.347G>A:p.Cys116Tyr	coding	Pathogenic/Likely_pathogenic
1	75733592	A	C	A75733592C	ACADM	NM_000016.5(ACADM):c.351A>C:p.Thr117=	coding	Benign
1	75733629	G	A	G75733629A	ACADM	NM_000016.5(ACADM):c.387+1G>A	coding	Pathogenic
1	75733660	C	G	C75733660G	ACADM	NM_000016.5(ACADM):c.387+32C>G	noncoding	Benign
1	75734846	G	A	G75734846A	ACADM	NM_000016.5(ACADM):c.443G>A:p.Arg148Lys	coding	Pathogenic/Likely_pathogenic
1	75734850	G	A	G75734850A	ACADM	NM_000016.5(ACADM):c.447G>A:p.Met149Ile	coding	Pathogenic
1	75734867	T	C	T75734867C	ACADM	NM_000016.5(ACADM):c.464T>C:p.Met155Thr	coding	Pathogenic
1	75734933	C	T	C75734933T	ACADM	NM_000016.5(ACADM):c.468+62C>T	noncoding	Benign
1	75734942	T	C	T75734942C	ACADM	NM_000016.5(ACADM):c.468+71T>C	noncoding	Benign
1	75739958	C	A	C75739958A	ACADM	NM_000016.5(ACADM):c.469-22C>A	noncoding	Benign
1	75739979	G	A	G75739979A	ACADM	NM_000016.5(ACADM):c.469-1G>A	noncoding	Pathogenic
1	75739988	T	G	T75739988G	ACADM	NM_001127328.2(ACADM):c.489T>G:p.Cys163Trp	coding	Benign
1	75740000	T	G	T75740000G	ACADM	NM_000016.5(ACADM):c.489T>G:p.Pro163=	coding	Benign
1	75740094	G	A	G75740094A	ACADM	NM_000016.5(ACADM):c.583G>A:p.Gly195Arg	coding	Pathogenic/Likely_pathogenic
1	75740112	T	C	T75740112C	ACADM	NM_000016.5(ACADM):c.599+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	75745788	G	A	G75745788A	ACADM	NM_000016.5(ACADM):c.600-18G>A	noncoding	Pathogenic/Likely_pathogenic
1	75745814	T	A	T75745814A	ACADM	NM_000016.6(ACADM):c.608T>A:p.Leu203Ter	coding	Pathogenic
1	75745822	C	T	C75745822T	ACADM	NM_000016.5(ACADM):c.616C>T:p.Arg206Cys	coding	Pathogenic/Likely_pathogenic
1	75745823	G	A	G75745823A	ACADM	NM_000016.5(ACADM):c.617G>A:p.Arg206His	coding	Pathogenic/Likely_pathogenic
1	75745884	A	G	A75745884G	ACADM	NM_000016.5(ACADM):c.678A>G:p.Ala226=	coding	Benign/Likely_benign
1	75745904	T	C	T75745904C	ACADM	NM_000016.5(ACADM):c.698T>C:p.Ile233Thr	coding	Pathogenic/Likely_pathogenic
1	75749440	T	C	T75749440C	ACADM	NM_000016.5(ACADM):c.730T>C:p.Cys244Arg	coding	Pathogenic
1	75749444	C	T	C75749444T	ACADM	NM_000016.5(ACADM):c.734C>T:p.Ser245Leu	coding	Pathogenic/Likely_pathogenic
1	75749452	A	G	A75749452G	ACADM	NM_000016.5(ACADM):c.742A>G:p.Arg248Gly	coding	Pathogenic
1	75749509	G	A	G75749509A	ACADM	NM_000016.5(ACADM):c.799G>A:p.Gly267Arg	coding	Pathogenic/Likely_pathogenic
1	75749552	G	C	G75749552C	ACADM	NM_000016.5(ACADM):c.842G>C:p.Arg281Thr	coding	Pathogenic
1	75749553	A	T	A75749553T	ACADM	NM_000016.5(ACADM):c.843A>T:p.Arg281Ser	coding	Pathogenic/Likely_pathogenic
1	75749560	G	A	G75749560A	ACADM	NM_000016.5(ACADM):c.849+1G>A	coding	Pathogenic
1	75750482	G	C	G75750482C	ACADM	NM_000016.5(ACADM):c.881G>C:p.Arg294Thr	coding	Pathogenic/Likely_pathogenic
1	75750501	C	T	C75750501T	ACADM	NM_000016.5(ACADM):c.900C>T:p.Thr300=	coding	Benign
1	75761120	A	C	A75761120C	ACADM	NM_000016.5(ACADM):c.946-2A>C	noncoding	Pathogenic
1	75761158	A	G	A75761158G	ACADM	NM_000016.6(ACADM):c.982A>G:p.Met328Val	coding	Pathogenic
1	75761161	A	C	A75761161C	ACADM	NM_000016.5(ACADM):c.985A>C:p.Lys329Gln	coding	Pathogenic
1	75761188	C	T	C75761188T	ACADM	NM_000016.5(ACADM):c.1012C>T:p.Gln338Ter	coding	Pathogenic
1	75761218	C	T	C75761218T	ACADM	NM_000016.6(ACADM):c.1042C>T:p.Arg348Cys	coding	Pathogenic
1	75761221	C	T	C75761221T	ACADM	NM_000016.5(ACADM):c.1045C>T:p.Arg349Ter	coding	Pathogenic/Likely_pathogenic
1	75761231	A	G	A75761231G	ACADM	NM_000016.5(ACADM):c.1055A>G:p.Tyr352Cys	coding	Pathogenic
1	75761261	G	A	G75761261A	ACADM	NM_000016.6(ACADM):c.1085G>A:p.Gly362Glu	coding	Pathogenic
1	75761300	T	C	T75761300C	ACADM	NM_000016.5(ACADM):c.1124T>C:p.Ile375Thr	coding	Pathogenic
1	75761326	G	T	G75761326T	ACADM	NM_000016.5(ACADM):c.1150G>T:p.Glu384Ter	coding	Pathogenic/Likely_pathogenic
1	75761337	A	G	A75761337G	ACADM	NM_000016.5(ACADM):c.1161A>G:p.Val387=	coding	Benign
1	75761365	T	A	T75761365A	ACADM	NM_000016.5(ACADM):c.1189T>A:p.Tyr397Asn	coding	Pathogenic/Likely_pathogenic
1	75761366	A	C	A75761366C	ACADM	NM_000016.5(ACADM):c.1190A>C:p.Tyr397Ser	coding	Pathogenic
1	75761371	G	A	G75761371A	ACADM	NM_000016.5(ACADM):c.1194+1G>A	coding	Pathogenic
1	75762802	G	A	G75762802A	ACADM	NM_000016.5(ACADM):c.*39G>A	noncoding	Benign/Likely_benign
1	75762840	C	T	C75762840T	ACADM	NM_000016.5(ACADM):c.*77C>T	noncoding	Benign/Likely_benign
1	75763435	T	C	T75763435C	ACADM	NM_000016.5(ACADM):c.*672T>C	noncoding	Benign
1	75763536	G	A	G75763536A	ACADM	NM_000016.5(ACADM):c.*773G>A	noncoding	Benign
1	75763641	T	C	T75763641C	ACADM	NM_000016.5(ACADM):c.*878T>C	noncoding	Benign
1	75881378	G	T	G75881378T	MSH4	NM_002440.4(MSH4):c.1906+8G>T	noncoding	Benign
1	75890730	C	T	C75890730T	MSH4	NM_002440.4(MSH4):c.2261C>T:p.Ser754Leu	coding	Pathogenic
1	76868492	C	T	C76868492T	ST6GALNAC5	NM_030965.3(ST6GALNAC5):c.16-5C>T	noncoding	Benign
1	77044323	C	T	C77044323T	ST6GALNAC5	NM_030965.3(ST6GALNAC5):c.381C>T:p.Pro127=	coding	Benign
1	77154612	A	G	A77154612G	PIGK	NM_005482.3(PIGK):c.823T>C:p.Cys275Arg	coding	Pathogenic
1	77166727	T	G	T77166727G	PIGK	NM_005482.3(PIGK):c.479A>C:p.Tyr160Ser	coding	Pathogenic
1	77169375	G	A	G77169375A	PIGK	NM_005482.3(PIGK):c.260C>T:p.Ala87Val	coding	Pathogenic
1	77206721	G	A	G77206721A	PIGK	NM_005482.3(PIGK):c.158C>T:p.Ser53Phe	coding	Pathogenic
1	77210486	G	A	G77210486A	PIGK	NM_005482.3(PIGK):c.97C>T:p.Gln33Ter	coding	Pathogenic
1	77210490	C	G	C77210490G	PIGK	NM_005482.3(PIGK):c.94-1G>C	coding	Pathogenic
1	77417727	C	T	C77417727T	AK5	NM_174858.3(AK5):c.1059+12C>T	noncoding	Benign
1	77558599	T	C	T77558599C	AK5	NM_174858.3(AK5):c.1621-3T>C	noncoding	Benign
1	77565748	T	C	T77565748C	ZZZ3	NM_015534.6(ZZZ3):c.2604A>G:p.Gln868=	coding	Benign
1	77579636	A	G	A77579636G	ZZZ3	NM_015534.6(ZZZ3):c.1981-8T>C	noncoding	Benign
1	77888754	T	C	T77888754C	NEXN	NM_144573.3(NEXN):c.-58T>C	noncoding	Benign
1	77916039	T	C	T77916039C	NEXN	NM_144573.3(NEXN):c.-52-16T>C	noncoding	Benign
1	77916073	C	A	C77916073A	NEXN	NM_144573.3(NEXN):c.-34C>A	noncoding	Benign
1	77916333	T	C	T77916333C	NEXN	NM_144573.3(NEXN):c.27+200T>C	noncoding	Benign
1	77916353	A	C	A77916353C	NEXN	NM_144573.3(NEXN):c.27+220A>C	noncoding	Benign
1	77917616	T	C	T77917616C	NEXN	NM_144573.3(NEXN):c.78T>C:p.Leu26=	coding	Benign/Likely_benign
1	77917694	C	T	C77917694T	NEXN	NM_144573.4(NEXN):c.156C>T:p.Asp52=	coding	Benign/Likely_benign
1	77917782	G	A	G77917782A	NEXN	NM_144573.3(NEXN):c.219+25G>A	noncoding	Benign
1	77918189	G	A	G77918189A	NEXN	NM_144573.4(NEXN):c.363G>A:p.Thr121=	coding	Benign
1	77918217	C	G	C77918217G	NEXN	NM_144573.3(NEXN):c.391C>G:p.Gln131Glu	coding	Pathogenic
1	77926760	C	A	C77926760A	NEXN	NM_144573.4(NEXN):c.732C>A:p.Pro244=	coding	Benign/Likely_benign
1	77926760	C	T	C77926760T	NEXN	NM_144573.3(NEXN):c.732C>T:p.Pro244=	coding	Benign/Likely_benign
1	77926761	G	A	G77926761A	NEXN	NM_144573.4(NEXN):c.733G>A:p.Gly245Arg	coding	Benign
1	77926805	A	G	A77926805G	NEXN	NM_144573.4(NEXN):c.777A>G:p.Gln259=	coding	Benign/Likely_benign
1	77926904	T	A	T77926904A	NEXN	NM_144573.4(NEXN):c.864+12T>A	noncoding	Benign/Likely_benign
1	77929400	A	C	A77929400C	NEXN	NM_144573.4(NEXN):c.949A>C:p.Met317Leu	coding	Benign/Likely_benign
1	77929446	A	C	A77929446C	NEXN	NM_144573.4(NEXN):c.995A>C:p.Glu332Ala	coding	Benign/Likely_benign
1	77929480	G	A	G77929480A	NEXN	NM_144573.4(NEXN):c.1029G>A:p.Ala343=	coding	Benign/Likely_benign
1	77929632	T	C	T77929632C	NEXN	NM_144573.3(NEXN):c.1053+128T>C	noncoding	Benign
1	77933293	T	C	T77933293C	NEXN	NM_144573.4(NEXN):c.1065T>C:p.Asp355=	coding	Benign/Likely_benign
1	77933522	C	G	C77933522G	NEXN	NM_144573.3(NEXN):c.1251+43C>G	noncoding	Benign
1	77933527	T	C	T77933527C	NEXN	NM_144573.3(NEXN):c.1251+48T>C	noncoding	Benign
1	77935522	T	C	T77935522C	NEXN	NM_144573.3(NEXN):c.1252-301T>C	noncoding	Benign
1	77935979	G	C	G77935979C	NEXN	NM_144573.4(NEXN):c.1408G>C:p.Glu470Gln	coding	Benign
1	77935993	G	A	G77935993A	NEXN	NM_144573.3(NEXN):c.1422G>A:p.Arg474=	coding	Benign/Likely_benign
1	77942167	A	G	A77942167G	NEXN	NM_144573.4(NEXN):c.1618A>G:p.Met540Val	coding	Benign/Likely_benign
1	77942226	C	G	C77942226G	NEXN	NM_144573.3(NEXN):c.1659+18C>G	noncoding	Benign
1	77942586	C	T	C77942586T	NEXN	NM_144573.4(NEXN):c.1785C>T:p.Asp595=	coding	Benign/Likely_benign
1	77942632	C	A	C77942632A	NEXN	NM_144573.3(NEXN):c.1831C>A:p.Pro611Thr	coding	Pathogenic
1	77962911	G	A	G77962911A	FUBP1	NM_001303433.1(FUBP1):c.1266C>T:p.Ser422=	coding	Benign
1	77963723	G	C	G77963723C	FUBP1	NM_003902.5(FUBP1):c.1042-8C>G	noncoding	Benign
1	77978951	A	G	A77978951G	FUBP1	NM_001303433.1(FUBP1):c.54T>C:p.Gly18=	coding	Benign
1	78492766	A	T	A78492766T	PTGFR	NM_000959.4(PTGFR):c.23A>T:p.Gln8Leu	coding	Benign
1	78493396	T	C	T78493396C	PTGFR	NM_000959.4(PTGFR):c.653T>C:p.Leu218Ser	coding	Benign
1	78628357	C	T	C78628357T	IFI44L	NM_006820.4(IFI44L):c.442C>T:p.Arg148Cys	coding	Benign
1	78637042	G	A	G78637042A	IFI44L	NM_006820.4(IFI44L):c.887G>A:p.Arg296His	coding	Benign
1	78641602	G	A	G78641602A	IFI44L	NM_006820.4(IFI44L):c.1317G>A:p.Glu439=	coding	Benign
1	78650276	C	G	C78650276G	IFI44	NM_006417.5(IFI44):c.81C>G:p.Leu27=	coding	Benign
1	78936332	A	G	A78936332G	ADGRL4	NM_022159.4(ADGRL4):c.840T>C:p.Asn280=	coding	Benign
1	81990617	G	A	G81990617A	ADGRL2	NM_012302.4(ADGRL2):c.3684G>A:p.Thr1228=	coding	Benign
1	84555086	G	A	G84555086A	CTBS	NM_004388.3(CTBS):c.1071C>T:p.Asn357=	coding	Benign
1	84555112	G	A	G84555112A	CTBS	NM_004388.3(CTBS):c.1045C>T:p.Arg349Trp	coding	Benign
1	84574314	C	T	C84574314T	CTBS	NM_004388.3(CTBS):c.102G>A:p.Arg34=	coding	Benign
1	84814046	C	T	C84814046T	LPAR3	NM_012152.3(LPAR3):c.862G>A:p.Val288Met	coding	Benign
1	84814083	T	C	T84814083C	LPAR3	NM_012152.3(LPAR3):c.825A>G:p.Lys275=	coding	Benign
1	84865779	A	C	A84865779C	LPAR3	NM_012152.3(LPAR3):c.342T>G:p.Thr114=	coding	Benign
1	84937887	A	T	A84937887T	MCOLN2	NM_153259.4(MCOLN2):c.1213-10T>A	noncoding	Benign
1	84939543	C	T	C84939543T	MCOLN2	NM_153259.4(MCOLN2):c.1110+10G>A	noncoding	Benign
1	84939555	T	G	T84939555G	MCOLN2	NM_153259.4(MCOLN2):c.1108A>C:p.Lys370Gln	coding	Benign
1	84939570	T	C	T84939570C	MCOLN2	NM_153259.4(MCOLN2):c.1093A>G:p.Met365Val	coding	Benign
1	84996815	C	T	C84996815T	MCOLN2	NM_153259.4(MCOLN2):c.58G>A:p.Val20Ile	coding	Benign
1	84996828	C	T	C84996828T	MCOLN2	NM_153259.4(MCOLN2):c.45G>A:p.Glu15=	coding	Benign
1	85071948	C	G	C85071948G	DNAI3	NM_145172.5(DNAI3):c.7C>G:p.Pro3Ala	coding	Benign
1	85081367	C	T	C85081367T	DNAI3	NM_145172.5(DNAI3):c.237C>T:p.Arg79=	coding	Benign
1	85086039	G	A	G85086039A	DNAI3	NM_145172.5(DNAI3):c.740+9G>A	noncoding	Benign
1	85093522	G	A	G85093522A	DNAI3	NM_145172.5(DNAI3):c.922G>A:p.Ala308Thr	coding	Benign
1	85097661	C	A	C85097661A	DNAI3	NM_145172.5(DNAI3):c.1350+6C>A	noncoding	Benign
1	85110080	C	T	C85110080T	DNAI3	NM_145172.5(DNAI3):c.1731C>T:p.Asp577=	coding	Benign
1	85124155	C	T	C85124155T	DNAI3	NM_145172.5(DNAI3):c.2016C>T:p.Asp672=	coding	Benign
1	85126503	G	T	G85126503T	DNAI3	NM_145172.5(DNAI3):c.2113-8G>T	noncoding	Benign
1	85126597	C	T	C85126597T	DNAI3	NM_145172.5(DNAI3):c.2199C>T:p.Ile733=	coding	Benign
1	85126651	A	G	A85126651G	DNAI3	NM_145172.5(DNAI3):c.2253A>G:p.Glu751=	coding	Benign
1	85128754	T	C	T85128754C	DNAI3	NM_145172.5(DNAI3):c.2364T>C:p.His788=	coding	Benign
1	85130031	T	C	T85130031C	DNAI3	NM_145172.5(DNAI3):c.2451T>C:p.His817=	coding	Benign
1	85183190	G	C	G85183190C	SYDE2	NM_032184.2(SYDE2):c.1452C>G:p.Ile484Met	coding	Benign
1	85190190	C	T	C85190190T	SYDE2	NM_032184.2(SYDE2):c.1308G>A:p.Arg436=	coding	Benign
1	85190686	A	G	A85190686G	SYDE2	NM_032184.2(SYDE2):c.812T>C:p.Ile271Thr	coding	Benign
1	85190726	A	G	A85190726G	SYDE2	NM_032184.2(SYDE2):c.772T>C:p.Ser258Pro	coding	Benign
1	85267691	C	T	C85267691T	BCL10	NM_003921.5(BCL10):c.638G>A:p.Gly213Glu	coding	Benign
1	85267841	G	A	G85267841A	BCL10	NM_003921.5(BCL10):c.488C>T:p.Thr163Met	coding	Pathogenic
1	85267987	A	G	A85267987G	BCL10	NM_003921.5(BCL10):c.347-5T>C	noncoding	Benign
1	85270609	A	G	A85270609G	BCL10	NM_003921.5(BCL10):c.346+9T>C	noncoding	Benign
1	85270792	G	A	G85270792A	BCL10	NM_003921.5(BCL10):c.172C>T:p.Arg58Ter	coding	Pathogenic
1	85270792	G	C	G85270792C	BCL10	NM_003921.5(BCL10):c.172C>G:p.Arg58Gly	coding	Pathogenic
1	85276295	C	T	C85276295T	BCL10	NM_003921.5(BCL10):c.57+1G>A	noncoding	Pathogenic
1	85276329	G	C	G85276329C	BCL10	NM_003921.5(BCL10):c.24C>G:p.Leu8=	coding	Benign
1	85276340	C	A	C85276340A	BCL10	NM_003921.5(BCL10):c.13G>T:p.Ala5Ser	coding	Benign
1	85582796	C	T	C85582796T	CCN1	NM_001554.5(CCN1):c.900C>T:p.Tyr300=	coding	Benign
1	85868619	G	C	G85868619C	COL24A1	NM_152890.7(COL24A1):c.3200C>G:p.Pro1067Arg	coding	Benign
1	85908635	G	T	G85908635T	COL24A1	NM_152890.7(COL24A1):c.2687C>A:p.Pro896His	coding	Benign
1	86125672	A	G	A86125672G	COL24A1	NM_152890.7(COL24A1):c.664T>C:p.Leu222=	coding	Benign
1	86125734	C	T	C86125734T	COL24A1	NM_152890.7(COL24A1):c.602G>A:p.Ser201Asn	coding	Benign
1	86356543	C	T	C86356543T	ODF2L	NM_001007022.3(ODF2L):c.1419G>A:p.Thr473=	coding	Benign
1	86356562	C	T	C86356562T	ODF2L	NM_001007022.3(ODF2L):c.1400G>A:p.Arg467His	coding	Benign
1	86358813	T	C	T86358813C	ODF2L	NM_001007022.3(ODF2L):c.1333A>G:p.Lys445Glu	coding	Benign
1	86428558	C	T	C86428558T	CLCA2	NM_006536.7(CLCA2):c.465C>T:p.Tyr155=	coding	Benign
1	86455230	G	A	G86455230A	CLCA2	NM_006536.7(CLCA2):c.2535G>A:p.Thr845=	coding	Benign
1	86494331	G	A	G86494331A	CLCA1	NM_001285.4(CLCA1):c.1825G>A:p.Val609Ile	coding	Benign
1	86494416	C	T	C86494416T	CLCA1	NM_001285.4(CLCA1):c.1910C>T:p.Thr637Ile	coding	Benign
1	86495543	T	C	T86495543C	CLCA1	NM_001285.4(CLCA1):c.1981T>C:p.Tyr661His	coding	Benign
1	86495683	A	G	A86495683G	CLCA1	NM_001285.4(CLCA1):c.2113+8A>G	noncoding	Benign
1	86560249	A	G	A86560249G	CLCA4	NM_012128.4(CLCA4):c.339A>G:p.Arg113=	coding	Benign
1	86565961	T	C	T86565961C	CLCA4	NM_012128.4(CLCA4):c.895T>C:p.Leu299=	coding	Benign
1	86574546	A	G	A86574546G	CLCA4	NM_012128.4(CLCA4):c.1474A>G:p.Ser492Gly	coding	Benign
1	87084186	C	T	C87084186T	HS2ST1	NM_012262.4(HS2ST1):c.364-8C>T	noncoding	Benign
1	89191291	G	A	G89191291A	GBP4	NM_052941.5(GBP4):c.886C>T:p.Leu296=	coding	Benign
1	89266511	T	C	T89266511C	GBP5	NM_052942.4(GBP5):c.703A>G:p.Ile235Val	coding	Benign
1	89269398	T	A	T89269398A	GBP5	NM_052942.4(GBP5):c.158A>T:p.Tyr53Phe	coding	Benign
1	89380426	G	A	G89380426A	GBP6	NM_198460.3(GBP6):c.666G>A:p.Glu222=	coding	Benign
1	89382793	G	T	G89382793T	GBP6	NM_198460.3(GBP6):c.1282G>T:p.Val428Phe	coding	Benign
1	89383697	G	A	G89383697A	GBP6	NM_198460.3(GBP6):c.1411G>A:p.Glu471Lys	coding	Benign
1	89385284	G	A	G89385284A	GBP6	NM_198460.3(GBP6):c.1717G>A:p.Ala573Thr	coding	Benign
1	89582767	C	T	C89582767T	LRRC8B	NM_001134476.2(LRRC8B):c.117C>T:p.Ala39=	coding	Benign
1	89583223	G	A	G89583223A	LRRC8B	NM_001134476.2(LRRC8B):c.573G>A:p.Ser191=	coding	Benign
1	89583512	G	A	G89583512A	LRRC8B	NM_001134476.2(LRRC8B):c.862G>A:p.Asp288Asn	coding	Benign
1	89583529	G	A	G89583529A	LRRC8B	NM_001134476.2(LRRC8B):c.879G>A:p.Val293=	coding	Benign
1	89584056	G	A	G89584056A	LRRC8B	NM_001134476.2(LRRC8B):c.1406G>A:p.Arg469His	coding	Benign
1	89713911	A	G	A89713911G	LRRC8C	NM_032270.5(LRRC8C):c.1341A>G:p.Gln447=	coding	Benign
1	89714284	A	G	A89714284G	LRRC8C	NM_032270.5(LRRC8C):c.1714A>G:p.Ile572Val	coding	Benign
1	90916206	C	T	C90916206T	ZNF644	NM_201269.3(ZNF644):c.*592G>A	noncoding	Pathogenic
1	90916849	G	A	G90916849A	ZNF644	NM_201269.3(ZNF644):c.3933C>T:p.Ala1311=	coding	Benign
1	90938746	T	C	T90938746C	ZNF644	NM_201269.3(ZNF644):c.2608A>G:p.Thr870Ala	coding	Benign
1	90939340	T	C	T90939340C	ZNF644	NM_201269.3(ZNF644):c.2014A>G:p.Ser672Gly	coding	Pathogenic
1	90939595	T	C	T90939595C	ZNF644	NM_201269.3(ZNF644):c.1759A>G:p.Ile587Val	coding	Pathogenic
1	90939658	T	A	T90939658A	ZNF644	NM_201269.3(ZNF644):c.1696A>T:p.Thr566Ser	coding	Benign
1	90939688	T	C	T90939688C	ZNF644	NM_201269.3(ZNF644):c.1666A>G:p.Met556Val	coding	Benign
1	90940553	T	C	T90940553C	ZNF644	NM_201269.3(ZNF644):c.801A>G:p.Gln267=	coding	Benign
1	90941120	C	T	C90941120T	ZNF644	NM_201269.3(ZNF644):c.234G>A:p.Leu78=	coding	Benign
1	90941218	T	C	T90941218C	ZNF644	NM_201269.3(ZNF644):c.136A>G:p.Asn46Asp	coding	Benign
1	91319322	A	C	A91319322C	HFM1	NM_001017975.5(HFM1):c.2651T>G:p.Ile884Ser	coding	Pathogenic
1	91343457	C	T	C91343457T	HFM1	NM_001017975.5(HFM1):c.2308G>A:p.Asp770Asn	coding	Benign
1	91350738	C	T	C91350738T	HFM1	NM_001017975.5(HFM1):c.2206G>A:p.Gly736Ser	coding	Pathogenic
1	91353299	C	G	C91353299G	HFM1	NM_001017975.5(HFM1):c.1686G>C:p.Arg562Ser	coding	Pathogenic
1	91378126	T	C	T91378126C	HFM1	NM_001017975.5(HFM1):c.1294A>G:p.Met432Val	coding	Benign
1	91401078	A	G	A91401078G	HFM1	NM_001017975.5(HFM1):c.5T>C:p.Leu2Pro	coding	Benign
1	91698125	C	G	C91698125G	TGFBR3	NM_003243.5(TGFBR3):c.2293G>C:p.Gly765Arg	coding	Benign
1	91720178	G	A	G91720178A	TGFBR3	NM_003243.5(TGFBR3):c.1128C>T:p.Ile376=	coding	Benign
1	91722095	A	G	A91722095G	TGFBR3	NM_003243.5(TGFBR3):c.935T>C:p.Met312Thr	coding	Benign/Likely_benign
1	91861477	T	C	T91861477C	TGFBR3	NM_003243.5(TGFBR3):c.55A>G:p.Thr19Ala	coding	Benign/Likely_benign
1	91981700	G	A	G91981700A	BRDT	NM_001242806.2(BRDT):c.1959G>A:p.Glu653=	coding	Benign
1	92014213	G	A	G92014213A	BRDT	NM_001726.4(BRDT):c.2783G>A:p.Gly928Asp	coding	Pathogenic
1	92178321	G	A	G92178321A	BTBD8	NM_001376131.1(BTBD8):c.2451G>A:p.Lys817=	coding	Benign
1	92180975	A	T	A92180975T	BTBD8	NM_001376131.1(BTBD8):c.3292A>T:p.Asn1098Tyr	coding	Benign
1	92246415	C	G	C92246415G	GLMN	NM_053274.3(GLMN):c.*115G>C	noncoding	Benign
1	92247100	C	A	C92247100A	GLMN	NM_053274.3(GLMN):c.1630G>T:p.Glu544Ter	coding	Pathogenic
1	92247981	T	A	T92247981A	GLMN	NM_053274.3(GLMN):c.1482A>T:p.Leu494Phe	coding	Benign
1	92263726	G	A	G92263726A	GLMN	NM_053274.3(GLMN):c.1306C>T:p.Arg436Cys	coding	Benign
1	92266425	A	C	A92266425C	GLMN	NM_053274.3(GLMN):c.1208T>G:p.Leu403Ter	coding	Pathogenic
1	92266474	T	C	T92266474C	GLMN	NM_053274.3(GLMN):c.1159A>G:p.Met387Val	coding	Benign
1	92266745	G	A	G92266745A	GLMN	NM_053274.3(GLMN):c.1099-4C>T	noncoding	Benign
1	92267954	A	G	A92267954G	GLMN	NM_053274.3(GLMN):c.1057T>C:p.Tyr353His	coding	Benign
1	92267989	T	C	T92267989C	GLMN	NM_053274.3(GLMN):c.1022A>G:p.Asn341Ser	coding	Benign
1	92268106	A	G	A92268106G	GLMN	NM_053274.3(GLMN):c.1007T>C:p.Leu336Ser	coding	Benign
1	92269714	C	T	C92269714T	GLMN	NM_053274.3(GLMN):c.977+9G>A	noncoding	Benign
1	92269716	A	T	A92269716T	GLMN	NM_053274.3(GLMN):c.977+7T>A	noncoding	Benign
1	92271489	A	G	A92271489G	GLMN	NM_053274.3(GLMN):c.899T>C:p.Ile300Thr	coding	Benign
1	92271532	T	C	T92271532C	GLMN	NM_053274.3(GLMN):c.856A>G:p.Met286Val	coding	Benign
1	92271623	G	A	G92271623A	GLMN	NM_053274.3(GLMN):c.765C>T:p.Phe255=	coding	Benign
1	92288965	T	C	T92288965C	GLMN	NM_053274.3(GLMN):c.581A>G:p.Asn194Ser	coding	Benign
1	92289004	A	G	A92289004G	GLMN	NM_053274.3(GLMN):c.542T>C:p.Ile181Thr	coding	Benign
1	92289027	A	G	A92289027G	GLMN	NM_053274.3(GLMN):c.519T>C:p.Leu173=	coding	Benign
1	92289110	C	T	C92289110T	GLMN	NM_053274.3(GLMN):c.436G>A:p.Ala146Thr	coding	Benign
1	92291432	C	T	C92291432T	GLMN	NM_053274.3(GLMN):c.271G>A:p.Asp91Asn	coding	Benign
1	92297394	T	C	T92297394C	GLMN	NM_053274.3(GLMN):c.165+10A>G	noncoding	Benign/Likely_benign
1	92297425	A	C	A92297425C	GLMN	NM_053274.3(GLMN):c.144T>G:p.Ile48Met	coding	Benign
1	92297461	G	T	G92297461T	GLMN	NM_053274.3(GLMN):c.108C>A:p.Cys36Ter	coding	Pathogenic
1	92297511	C	T	C92297511T	GLMN	NM_053274.3(GLMN):c.58G>A:p.Asp20Asn	coding	Benign
1	92297959	A	G	A92297959G	GLMN	NM_053274.3(GLMN):c.39+2T>C	noncoding	Pathogenic
1	92298928	C	T	C92298928T	GLMN	NM_053274.3(GLMN):c.-34G>A	noncoding	Benign
1	92298948	A	C	A92298948C	GLMN	NM_053274.3(GLMN):c.-54T>G	noncoding	Benign
1	92476053	C	G	C92476053G	GFI1	NM_005263.5(GFI1):c.1245G>C:p.Arg415=	coding	Benign
1	92476059	C	T	C92476059T	GFI1	NM_005263.5(GFI1):c.1239G>A:p.Arg413=	coding	Benign
1	92476100	G	A	G92476100A	GFI1	NM_005263.5(GFI1):c.1198C>T:p.Leu400Phe	coding	Benign
1	92476110	G	A	G92476110A	GFI1	NM_005263.5(GFI1):c.1188C>T:p.Phe396=	coding	Benign
1	92476153	T	C	T92476153C	GFI1	NM_005263.5(GFI1):c.1145A>G:p.Asn382Ser	coding	Pathogenic
1	92478631	G	A	G92478631A	GFI1	NM_005263.5(GFI1):c.1047C>T:p.Phe349=	coding	Benign/Likely_benign
1	92480480	G	A	G92480480A	GFI1	NM_005263.5(GFI1):c.792C>T:p.Phe264=	coding	Benign
1	92480669	C	G	C92480669G	GFI1	NM_005263.5(GFI1):c.718G>C:p.Glu240Gln	coding	Benign/Likely_benign
1	92480739	T	C	T92480739C	GFI1	NM_005263.5(GFI1):c.648A>G:p.Ala216=	coding	Benign
1	92480904	A	G	A92480904G	GFI1	NM_005263.5(GFI1):c.483T>C:p.Pro161=	coding	Benign
1	92480922	G	A	G92480922A	GFI1	NM_005263.5(GFI1):c.465C>T:p.Cys155=	coding	Benign
1	92482994	G	A	G92482994A	GFI1	NM_005263.5(GFI1):c.168C>T:p.Ser56=	coding	Benign/Likely_benign
1	92483381	C	T	C92483381T	GFI1	NM_005263.5(GFI1):c.107G>A:p.Ser36Asn	coding	Benign
1	92483501	T	G	T92483501G	GFI1	NM_005263.5(GFI1):c.-14A>C	noncoding	Benign/Likely_benign
1	92513797	A	G	A92513797G	EVI5	NM_001350198.2(EVI5):c.*124T>C	coding	Benign
1	92607671	C	A	C92607671A	EVI5	NM_005665.6(EVI5):c.1836G>T:p.Gln612His	coding	Benign
1	92607683	C	T	C92607683T	EVI5	NM_005665.6(EVI5):c.1824G>A:p.Val608=	coding	Benign
1	92624266	T	C	T92624266C	EVI5	NM_005665.6(EVI5):c.1689A>G:p.Gln563=	coding	Benign
1	92695345	T	C	T92695345C	EVI5	NM_005665.6(EVI5):c.1006A>G:p.Ile336Val	coding	Benign
1	92832057	G	T	G92832057T	RPL5	NM_000969.5(RPL5):c.-58G>T	noncoding	Benign
1	92832060	C	G	C92832060G	RPL5	NM_000969.5(RPL5):c.-55C>G	noncoding	Benign
1	92832063	C	G	C92832063G	RPL5	NM_000969.5(RPL5):c.-52C>G	noncoding	Benign
1	92832067	G	A	G92832067A	RPL5	NM_000969.5(RPL5):c.-48G>A	noncoding	Benign
1	92832073	A	C	A92832073C	RPL5	NM_000969.5(RPL5):c.-42A>C	noncoding	Benign
1	92832097	C	A	C92832097A	RPL5	NM_000969.5(RPL5):c.-18C>A	noncoding	Benign
1	92832120	G	C	G92832120C	RPL5	NM_000969.5(RPL5):c.3+3G>C	noncoding	Benign/Likely_benign
1	92832129	C	T	C92832129T	RPL5	NM_000969.5(RPL5):c.3+12C>T	noncoding	Benign
1	92832130	C	T	C92832130T	RPL5	NM_000969.5(RPL5):c.3+13C>T	noncoding	Benign
1	92833433	C	G	C92833433G	RPL5	NM_000969.5(RPL5):c.48C>G:p.Tyr16Ter	coding	Pathogenic
1	92833452	C	T	C92833452T	RPL5	NM_000969.5(RPL5):c.67C>T:p.Arg23Ter	coding	Pathogenic
1	92833455	C	T	C92833455T	RPL5	NM_000969.5(RPL5):c.70C>T:p.Arg24Ter	coding	Pathogenic
1	92833460	T	G	T92833460G	RPL5	NM_000969.5(RPL5):c.73+2T>G	noncoding	Pathogenic
1	92833544	G	A	G92833544A	RPL5;DIPK1A	NM_000969.5(RPL5):c.74-1G>A	noncoding	Pathogenic
1	92833544	G	C	G92833544C	RPL5	NM_000969.5(RPL5):c.74-1G>C	noncoding	Pathogenic
1	92833603	C	G	C92833603G	RPL5	NM_000969.5(RPL5):c.132C>G:p.Tyr44Ter	coding	Pathogenic
1	92833636	G	A	G92833636A	RPL5	NM_000969.5(RPL5):c.165G>A:p.Val55=	coding	Benign
1	92833658	C	T	C92833658T	RPL5	NM_000969.5(RPL5):c.187C>T:p.Gln63Ter	coding	Pathogenic
1	92834833	G	T	G92834833T	RPL5	NM_000969.5(RPL5):c.244G>T:p.Glu82Ter	coding	Pathogenic
1	92834847	T	C	T92834847C	RPL5	NM_000969.5(RPL5):c.258T>C:p.Tyr86=	coding	Benign
1	92834927	G	T	G92834927T	RPL5	NM_000969.5(RPL5):c.324+14G>T	noncoding	Benign
1	92836179	T	G	T92836179G	RPL5	NM_000969.5(RPL5):c.325-11T>G	noncoding	Benign
1	92836186	A	G	A92836186G	RPL5	NM_000969.5(RPL5):c.325-4A>G	noncoding	Benign
1	92836268	A	G	A92836268G	RPL5	NM_000969.5(RPL5):c.403A>G:p.Ile135Val	coding	Benign/Likely_benign
1	92837463	C	T	C92837463T	RPL5	NM_000969.5(RPL5):c.535C>T:p.Arg179Ter	coding	Pathogenic
1	92837557	A	G	A92837557G	RPL5	NM_000969.5(RPL5):c.629A>G:p.Tyr210Cys	coding	Benign/Likely_benign
1	92837592	C	T	C92837592T	RPL5	NM_000969.5(RPL5):c.664C>T:p.Gln222Ter	coding	Pathogenic
1	92840626	G	C	G92840626C	RPL5	NM_000969.5(RPL5):c.781G>C:p.Val261Leu	coding	Benign/Likely_benign
1	92840760	G	A	G92840760A	RPL5	NM_000969.5(RPL5):c.794+121G>A	coding	Benign
1	92841757	C	A	C92841757A	RPL5	NM_000969.5(RPL5):c.795-9C>A	noncoding	Benign
1	92841817	A	G	A92841817G	RPL5	NM_000969.5(RPL5):c.846A>G:p.Gln282=	coding	Benign
1	92841912	T	C	T92841912C	RPL5	NM_000969.5(RPL5):c.*47T>C	coding	Benign
1	94010795	C	T	C94010795T	ABCA4	NM_000350.3(ABCA4):c.5714+5G>A	noncoding	Pathogenic
1	94010832	C	G	C94010832G	ABCA4	NM_000350.3(ABCA4):c.5682G>C:p.Leu1894=	coding	Benign/Likely_benign
1	94010872	G	C	G94010872C	ABCA4	NM_000350.3(ABCA4):c.5642C>G:p.Ala1881Gly	coding	Pathogenic
1	94011256	A	G	A94011256G	ABCA4	NM_000350.3(ABCA4):c.5584+6T>C	noncoding	Pathogenic
1	94011395	A	G	A94011395G	ABCA4	NM_000350.3(ABCA4):c.5461-10T>C	noncoding	Pathogenic/Likely_pathogenic
1	94011676	T	G	T94011676G	ABCA4	NM_000350.3(ABCA4):c.5461-291A>C	noncoding	Benign
1	94014542	C	T	C94014542T	ABCA4	NM_000350.3(ABCA4):c.5460+1G>A	noncoding	Pathogenic
1	94014622	G	T	G94014622T	ABCA4	NM_000350.3(ABCA4):c.5381C>A:p.Ala1794Asp	coding	Pathogenic
1	94014652	A	C	A94014652C	ABCA4	NM_000350.3(ABCA4):c.5351T>G:p.Leu1784Arg	coding	Pathogenic
1	94014674	T	A	T94014674A	ABCA4	NM_000350.3(ABCA4):c.5329A>T:p.Met1777Leu	coding	Pathogenic
1	94014676	G	A	G94014676A	ABCA4	NM_000350.3(ABCA4):c.5327C>T:p.Pro1776Leu	coding	Pathogenic/Likely_pathogenic
1	94014685	G	A	G94014685A	ABCA4	NM_000350.3(ABCA4):c.5318C>T:p.Ala1773Val	coding	Pathogenic/Likely_pathogenic
1	94014687	C	T	C94014687T	ABCA4	NM_000350.3(ABCA4):c.5316G>A:p.Trp1772Ter	coding	Pathogenic
1	94014883	T	C	T94014883C	ABCA4	NM_000350.3(ABCA4):c.5313-193A>G	noncoding	Benign
1	94014973	A	C	A94014973C	ABCA4	NM_000350.3(ABCA4):c.5313-283T>G	noncoding	Benign
1	94015737	A	C	A94015737C	ABCA4	NM_000350.3(ABCA4):c.5312+2T>G	noncoding	Pathogenic
1	94015738	C	T	C94015738T	ABCA4	NM_000350.3(ABCA4):c.5312+1G>A	noncoding	Pathogenic
1	94015766	G	T	G94015766T	ABCA4	NM_000350.3(ABCA4):c.5285C>A:p.Ala1762Asp	coding	Pathogenic
1	94015769	G	C	G94015769C	ABCA4	NM_000350.3(ABCA4):c.5282C>G:p.Pro1761Arg	coding	Pathogenic/Likely_pathogenic
1	94015853	A	G	A94015853G	ABCA4	NM_000350.3(ABCA4):c.5198T>C:p.Met1733Thr	coding	Pathogenic
1	94016040	A	G	A94016040G	ABCA4	NM_000350.3(ABCA4):c.5197-186T>C	noncoding	Benign
1	94018445	C	T	C94018445T	ABCA4	NM_000350.3(ABCA4):c.5196+1137G>A	noncoding	Pathogenic
1	94019580	A	G	A94019580G	ABCA4	NM_000350.3(ABCA4):c.5196+2T>C	noncoding	Pathogenic
1	94019581	C	T	C94019581T	ABCA4	NM_000350.3(ABCA4):c.5196+1G>A	noncoding	Pathogenic
1	94019589	C	T	C94019589T	ABCA4	NM_000350.3(ABCA4):c.5189G>A:p.Trp1730Ter	coding	Pathogenic/Likely_pathogenic
1	94019606	C	T	C94019606T	ABCA4	NM_000350.3(ABCA4):c.5172G>A:p.Trp1724Ter	coding	Pathogenic
1	94019609	G	C	G94019609C	ABCA4	NM_000350.3(ABCA4):c.5169C>G:p.Tyr1723Ter	coding	Pathogenic
1	94019935	A	G	A94019935G	ABCA4	NM_000350.3(ABCA4):c.5019-176T>C	noncoding	Benign
1	94021232	T	C	T94021232C	ABCA4	NM_000350.3(ABCA4):c.5018+8A>G	noncoding	Benign
1	94021238	A	G	A94021238G	ABCA4	NM_000350.3(ABCA4):c.5018+2T>C	noncoding	Pathogenic
1	94021238	A	T	A94021238T	ABCA4	NM_000350.3(ABCA4):c.5018+2T>A	noncoding	Pathogenic
1	94021262	C	A	C94021262A	ABCA4	NM_000350.3(ABCA4):c.4996G>T:p.Glu1666Ter	coding	Pathogenic
1	94021304	A	C	A94021304C	ABCA4	NM_000350.3(ABCA4):c.4954T>G:p.Tyr1652Asp	coding	Pathogenic
1	94021339	C	T	C94021339T	ABCA4	NM_000350.3(ABCA4):c.4919G>A:p.Arg1640Gln	coding	Pathogenic
1	94021404	C	T	C94021404T	ABCA4	NM_000350.3(ABCA4):c.4854G>A:p.Trp1618Ter	coding	Pathogenic
1	94021410	C	T	C94021410T	ABCA4	NM_000350.3(ABCA4):c.4849-1G>A	coding	Pathogenic/Likely_pathogenic
1	94021638	A	G	A94021638G	ABCA4	NM_000350.3(ABCA4):c.4848+2T>C	noncoding	Pathogenic
1	94021638	A	T	A94021638T	ABCA4	NM_000350.3(ABCA4):c.4848+2T>A	noncoding	Pathogenic
1	94021639	C	A	C94021639A	ABCA4	NM_000350.3(ABCA4):c.4848+1G>T	noncoding	Pathogenic
1	94021639	C	T	C94021639T	ABCA4	NM_000350.3(ABCA4):c.4848+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	94021695	G	T	G94021695T	ABCA4	NM_000350.3(ABCA4):c.4793C>A:p.Ala1598Asp	coding	Pathogenic/Likely_pathogenic
1	94021741	A	G	A94021741G	ABCA4	NM_000350.3(ABCA4):c.4774-27T>C	noncoding	Benign
1	94021798	G	A	G94021798A	ABCA4	NM_000350.3(ABCA4):c.4773+48C>T	noncoding	Benign
1	94021843	T	C	T94021843C	ABCA4	NM_000350.3(ABCA4):c.4773+3A>G	noncoding	Pathogenic
1	94021953	T	C	T94021953C	ABCA4	NM_000350.3(ABCA4):c.4668-2A>G	noncoding	Pathogenic
1	94023416	A	C	A94023416C	ABCA4	NM_000350.3(ABCA4):c.4637T>G:p.Leu1546Ter	coding	Pathogenic
1	94024994	C	T	C94024994T	ABCA4	NM_000350.3(ABCA4):c.4594G>A:p.Asp1532Asn	coding	Pathogenic/Likely_pathogenic
1	94025011	G	A	G94025011A	ABCA4	NM_000350.3(ABCA4):c.4577C>T:p.Thr1526Met	coding	Pathogenic/Likely_pathogenic
1	94025021	G	A	G94025021A	ABCA4	NM_000350.3(ABCA4):c.4567C>T:p.Gln1523Ter	coding	Pathogenic
1	94025050	T	C	T94025050C	ABCA4	NM_000350.3(ABCA4):c.4540-2A>G	noncoding	Pathogenic
1	94027143	C	G	C94027143G	ABCA4	NM_000350.3(ABCA4):c.4540-2095G>C	noncoding	Benign
1	94027217	T	C	T94027217C	ABCA4	NM_000350.3(ABCA4):c.4540-2169A>G	noncoding	Benign
1	94027416	G	C	G94027416C	ABCA4	NM_000350.3(ABCA4):c.4539+2029C>G	noncoding	Benign
1	94027444	C	T	C94027444T	ABCA4	NM_000350.3(ABCA4):c.4539+2001G>A	noncoding	Pathogenic
1	94027743	T	C	T94027743C	ABCA4	NM_000350.3(ABCA4):c.4539+1702A>G	noncoding	Benign
1	94029444	C	A	C94029444A	ABCA4	NM_000350.3(ABCA4):c.4539+1G>T	noncoding	Pathogenic
1	94029465	C	T	C94029465T	ABCA4	NM_000350.3(ABCA4):c.4519G>A:p.Gly1507Arg	coding	Pathogenic/Likely_pathogenic
1	94029481	C	G	C94029481G	ABCA4	NM_000350.3(ABCA4):c.4503G>C:p.Glu1501Asp	coding	Benign
1	94029515	C	T	C94029515T	ABCA4	NM_000350.3(ABCA4):c.4469G>A:p.Cys1490Tyr	coding	Pathogenic
1	94029521	C	T	C94029521T	ABCA4	NM_000350.3(ABCA4):c.4463G>A:p.Cys1488Tyr	coding	Pathogenic/Likely_pathogenic
1	94029522	A	G	A94029522G	ABCA4	NM_000350.3(ABCA4):c.4462T>C:p.Cys1488Arg	coding	Pathogenic/Likely_pathogenic
1	94029527	G	A	G94029527A	ABCA4	NM_000350.3(ABCA4):c.4457C>T:p.Pro1486Leu	coding	Pathogenic/Likely_pathogenic
1	94029547	C	T	C94029547T	ABCA4	NM_000350.3(ABCA4):c.4437G>A:p.Trp1479Ter	coding	Pathogenic
1	94029555	G	A	G94029555A	ABCA4	NM_000350.3(ABCA4):c.4429C>T:p.Gln1477Ter	coding	Pathogenic
1	94029601	C	T	C94029601T	ABCA4	NM_000350.3(ABCA4):c.4383G>A:p.Trp1461Ter	coding	Pathogenic
1	94029630	C	A	C94029630A	ABCA4	NM_000350.3(ABCA4):c.4354G>T:p.Glu1452Ter	coding	Pathogenic
1	94030260	T	C	T94030260C	ABCA4	NM_000350.3(ABCA4):c.4352+168A>G	noncoding	Benign
1	94030427	C	T	C94030427T	ABCA4	NM_000350.3(ABCA4):c.4352+1G>A	noncoding	Pathogenic
1	94030452	C	T	C94030452T	ABCA4	NM_000350.3(ABCA4):c.4328G>A:p.Arg1443His	coding	Pathogenic/Likely_pathogenic
1	94030454	G	T	G94030454T	ABCA4	NM_000350.3(ABCA4):c.4326C>A:p.Asn1442Lys	coding	Pathogenic/Likely_pathogenic
1	94030464	C	T	C94030464T	ABCA4	NM_000350.3(ABCA4):c.4316G>A:p.Gly1439Asp	coding	Pathogenic
1	94030497	G	A	G94030497A	ABCA4	NM_000350.3(ABCA4):c.4283C>T:p.Thr1428Met	coding	Benign/Likely_benign
1	94030511	G	A	G94030511A	ABCA4	NM_000350.3(ABCA4):c.4269C>T:p.Gly1423=	coding	Pathogenic
1	94030527	C	G	C94030527G	ABCA4	NM_000350.3(ABCA4):c.4254-1G>C	coding	Pathogenic
1	94030564	C	T	C94030564T	ABCA4	NM_000350.3(ABCA4):c.4254-38G>A	noncoding	Benign
1	94030697	G	A	G94030697A	ABCA4	NM_000350.3(ABCA4):c.4254-171C>T	noncoding	Benign
1	94030991	C	A	C94030991A	ABCA4	NM_000350.3(ABCA4):c.4253+5G>T	noncoding	Pathogenic
1	94030991	C	T	C94030991T	ABCA4	NM_000350.3(ABCA4):c.4253+5G>A	noncoding	Pathogenic
1	94030992	G	A	G94030992A	ABCA4	NM_000350.3(ABCA4):c.4253+4C>T	noncoding	Pathogenic/Likely_pathogenic
1	94031015	G	A	G94031015A	ABCA4	NM_000350.3(ABCA4):c.4234C>T:p.Gln1412Ter	coding	Pathogenic
1	94031026	C	T	C94031026T	ABCA4	NM_000350.3(ABCA4):c.4223G>A:p.Trp1408Ter	coding	Pathogenic
1	94031046	G	A	G94031046A	ABCA4	NM_000350.3(ABCA4):c.4203C>T:p.Pro1401=	coding	Benign/Likely_benign
1	94031046	G	T	G94031046T	ABCA4	NM_000350.3(ABCA4):c.4203C>A:p.Pro1401=	coding	Benign/Likely_benign
1	94031054	C	A	C94031054A	ABCA4	NM_000350.3(ABCA4):c.4195G>T:p.Glu1399Ter	coding	Pathogenic/Likely_pathogenic
1	94031054	C	T	C94031054T	ABCA4	NM_000350.3(ABCA4):c.4195G>A:p.Glu1399Lys	coding	Pathogenic/Likely_pathogenic
1	94031110	G	A	G94031110A	ABCA4	NM_000350.3(ABCA4):c.4139C>T:p.Pro1380Leu	coding	Pathogenic
1	94031398	C	A	C94031398A	ABCA4	NM_000350.3(ABCA4):c.4129-278G>T	noncoding	Benign
1	94031622	G	A	G94031622A	ABCA4	NM_000350.3(ABCA4):c.4128+156C>T	noncoding	Benign
1	94031778	C	G	C94031778G	ABCA4	NM_000350.3(ABCA4):c.4128G>C:p.Gln1376His	coding	Pathogenic/Likely_pathogenic
1	94031837	C	T	C94031837T	ABCA4	NM_000350.3(ABCA4):c.4069G>A:p.Ala1357Thr	coding	Pathogenic
1	94031912	G	A	G94031912A	ABCA4	NM_000350.3(ABCA4):c.3994C>T:p.Gln1332Ter	coding	Pathogenic/Likely_pathogenic
1	94032007	C	T	C94032007T	ABCA4	NM_000350.3(ABCA4):c.3899G>A:p.Arg1300Gln	coding	Benign/Likely_benign
1	94032008	G	A	G94032008A	ABCA4	NM_000350.3(ABCA4):c.3898C>T:p.Arg1300Ter	coding	Pathogenic
1	94032035	G	A	G94032035A	ABCA4	NM_000350.3(ABCA4):c.3871C>T:p.Gln1291Ter	coding	Pathogenic
1	94036739	C	T	C94036739T	ABCA4	NM_000350.3(ABCA4):c.3862+1G>A	noncoding	Pathogenic
1	94037145	C	T	C94037145T	ABCA4	NM_000350.3(ABCA4):c.3813G>A:p.Glu1271=	coding	Pathogenic
1	94037150	C	A	C94037150A	ABCA4	NM_000350.3(ABCA4):c.3808G>T:p.Glu1270Ter	coding	Pathogenic
1	94037204	C	A	C94037204A	ABCA4	NM_000350.3(ABCA4):c.3754G>T:p.Glu1252Ter	coding	Pathogenic
1	94037229	A	T	A94037229T	ABCA4	NM_000350.3(ABCA4):c.3729T>A:p.Tyr1243Ter	coding	Pathogenic
1	94037276	C	A	C94037276A	ABCA4	NM_000350.3(ABCA4):c.3682G>T:p.Glu1228Ter	coding	Pathogenic/Likely_pathogenic
1	94037332	A	G	A94037332G	ABCA4	NM_000350.3(ABCA4):c.3626T>C:p.Met1209Thr	coding	Benign/Likely_benign
1	94040129	T	C	T94040129C	ABCA4	NM_000350.3(ABCA4):c.3523-2A>G	noncoding	Pathogenic
1	94041328	G	A	G94041328A	ABCA4	NM_000350.3(ABCA4):c.3403C>T:p.Gln1135Ter	coding	Pathogenic
1	94041345	C	A	C94041345A	ABCA4	NM_000350.3(ABCA4):c.3386G>T:p.Arg1129Leu	coding	Pathogenic/Likely_pathogenic
1	94041367	C	T	C94041367T	ABCA4	NM_000350.3(ABCA4):c.3364G>A:p.Glu1122Lys	coding	Pathogenic
1	94042766	C	T	C94042766T	ABCA4	NM_000350.3(ABCA4):c.3323G>A:p.Arg1108His	coding	Pathogenic
1	94042767	G	A	G94042767A	ABCA4	NM_000350.3(ABCA4):c.3322C>T:p.Arg1108Cys	coding	Pathogenic/Likely_pathogenic
1	94042786	C	T	C94042786T	ABCA4	NM_000350.3(ABCA4):c.3303G>A:p.Trp1101Ter	coding	Pathogenic
1	94042792	T	G	T94042792G	ABCA4	NM_000350.3(ABCA4):c.3297A>C:p.Ser1099=	coding	Benign/Likely_benign
1	94042797	G	A	G94042797A	ABCA4	NM_000350.3(ABCA4):c.3292C>T:p.Arg1098Cys	coding	Pathogenic/Likely_pathogenic
1	94042800	T	A	T94042800A	ABCA4	NM_000350.3(ABCA4):c.3289A>T:p.Arg1097Ter	coding	Pathogenic
1	94042828	T	G	T94042828G	ABCA4	NM_000350.3(ABCA4):c.3261A>C:p.Glu1087Asp	coding	Pathogenic/Likely_pathogenic
1	94042830	C	A	C94042830A	ABCA4	NM_000350.3(ABCA4):c.3259G>T:p.Glu1087Ter	coding	Pathogenic
1	94042830	C	T	C94042830T	ABCA4	NM_000350.3(ABCA4):c.3259G>A:p.Glu1087Lys	coding	Pathogenic
1	94043235	C	T	C94043235T	ABCA4	NM_000350.3(ABCA4):c.3190+101G>A	noncoding	Benign
1	94043413	G	A	G94043413A	ABCA4	NM_000350.3(ABCA4):c.3113C>T:p.Ala1038Val	coding	Pathogenic/Likely_pathogenic
1	94043420	C	T	C94043420T	ABCA4	NM_000350.3(ABCA4):c.3106G>A:p.Glu1036Lys	coding	Pathogenic
1	94043435	T	A	T94043435A	ABCA4	NM_000350.3(ABCA4):c.3091A>T:p.Lys1031Ter	coding	Pathogenic
1	94043441	G	A	G94043441A	ABCA4	NM_000350.3(ABCA4):c.3085C>T:p.Gln1029Ter	coding	Pathogenic
1	94043445	A	C	A94043445C	ABCA4	NM_000350.3(ABCA4):c.3081T>G:p.Tyr1027Ter	coding	Pathogenic
1	94043462	C	A	C94043462A	ABCA4	NM_000350.3(ABCA4):c.3064G>T:p.Glu1022Ter	coding	Pathogenic
1	94043462	C	T	C94043462T	ABCA4	NM_000350.3(ABCA4):c.3064G>A:p.Glu1022Lys	coding	Pathogenic/Likely_pathogenic
1	94043470	G	A	G94043470A	ABCA4	NM_000350.3(ABCA4):c.3056C>T:p.Thr1019Met	coding	Pathogenic
1	94043471	T	C	T94043471C	ABCA4	NM_000350.3(ABCA4):c.3055A>G:p.Thr1019Ala	coding	Pathogenic
1	94043670	G	T	G94043670T	ABCA4	NM_000350.3(ABCA4):c.3051-195C>A	noncoding	Benign
1	94044608	C	T	C94044608T	ABCA4	NM_000350.3(ABCA4):c.3050+5G>A	noncoding	Pathogenic
1	94044612	C	T	C94044612T	ABCA4	NM_000350.3(ABCA4):c.3050+1G>A	noncoding	Pathogenic
1	94044692	C	A	C94044692A	ABCA4	NM_000350.3(ABCA4):c.2971G>T:p.Gly991Ter	coding	Pathogenic
1	94044699	G	A	G94044699A	ABCA4	NM_000350.3(ABCA4):c.2964C>T:p.Leu988=	coding	Benign/Likely_benign
1	94044716	T	C	T94044716C	ABCA4	NM_000350.3(ABCA4):c.2947A>G:p.Thr983Ala	coding	Pathogenic
1	94046922	G	T	G94046922T	ABCA4	NM_000350.3(ABCA4):c.2915C>A:p.Thr972Asn	coding	Pathogenic/Likely_pathogenic
1	94046943	T	C	T94046943C	ABCA4	NM_000350.3(ABCA4):c.2894A>G:p.Asn965Ser	coding	Pathogenic
1	94047009	C	T	C94047009T	ABCA4	NM_000350.3(ABCA4):c.2828G>A:p.Arg943Gln	coding	Benign/Likely_benign
1	94047022	C	A	C94047022A	ABCA4	NM_000350.3(ABCA4):c.2815G>T:p.Glu939Ter	coding	Pathogenic/Likely_pathogenic
1	94047039	T	A	T94047039A	ABCA4	NM_000350.3(ABCA4):c.2798A>T:p.Asn933Ile	coding	Pathogenic
1	94047337	C	T	C94047337T	ABCA4	NM_000350.3(ABCA4):c.2744-244G>A	noncoding	Benign
1	94048919	C	A	C94048919A	ABCA4	NM_000350.3(ABCA4):c.2692G>T:p.Glu898Ter	coding	Pathogenic
1	94051640	G	A	G94051640A	ABCA4	NM_000350.3(ABCA4):c.2646C>T:p.Gly882=	coding	Benign/Likely_benign
1	94051660	G	A	G94051660A	ABCA4	NM_000350.3(ABCA4):c.2626C>T:p.Gln876Ter	coding	Pathogenic/Likely_pathogenic
1	94055109	A	G	A94055109G	ABCA4	NM_000350.3(ABCA4):c.2587+2T>C	noncoding	Pathogenic
1	94055119	A	G	A94055119G	ABCA4	NM_000350.3(ABCA4):c.2579T>C:p.Val860Ala	coding	Pathogenic
1	94055133	C	T	C94055133T	ABCA4	NM_000350.3(ABCA4):c.2565G>A:p.Trp855Ter	coding	Pathogenic
1	94055134	C	T	C94055134T	ABCA4	NM_000350.3(ABCA4):c.2564G>A:p.Trp855Ter	coding	Pathogenic
1	94055237	A	G	A94055237G	ABCA4	NM_000350.3(ABCA4):c.2461T>C:p.Trp821Arg	coding	Pathogenic
1	94055237	A	T	A94055237T	ABCA4	NM_000350.3(ABCA4):c.2461T>A:p.Trp821Arg	coding	Pathogenic
1	94056638	C	T	C94056638T	ABCA4	NM_000350.3(ABCA4):c.2345G>A:p.Trp782Ter	coding	Pathogenic
1	94056683	A	T	A94056683T	ABCA4	NM_000350.3(ABCA4):c.2300T>A:p.Val767Asp	coding	Pathogenic/Likely_pathogenic
1	94056689	C	G	C94056689G	ABCA4	NM_000350.3(ABCA4):c.2294G>C:p.Ser765Thr	coding	Pathogenic
1	94056692	C	T	C94056692T	ABCA4	NM_000350.3(ABCA4):c.2291G>A:p.Cys764Tyr	coding	Pathogenic/Likely_pathogenic
1	94056823	C	T	C94056823T	ABCA4	NM_000350.3(ABCA4):c.2161-1G>A	coding	Pathogenic
1	94060067	A	G	A94060067G	ABCA4	NM_000350.3(ABCA4):c.2160+470T>C	noncoding	Benign
1	94060488	A	G	A94060488G	ABCA4	NM_000350.3(ABCA4):c.2160+49T>C	noncoding	Benign
1	94060536	C	A	C94060536A	ABCA4	NM_000350.3(ABCA4):c.2160+1G>T	noncoding	Pathogenic
1	94060598	C	T	C94060598T	ABCA4	NM_000350.3(ABCA4):c.2099G>A:p.Trp700Ter	coding	Pathogenic
1	94060656	G	A	G94060656A	ABCA4	NM_000350.3(ABCA4):c.2041C>T:p.Arg681Ter	coding	Pathogenic
1	94060702	G	T	G94060702T	ABCA4	NM_000350.3(ABCA4):c.1995C>A:p.Tyr665Ter	coding	Pathogenic
1	94060709	C	T	C94060709T	ABCA4	NM_000350.3(ABCA4):c.1988G>A:p.Trp663Ter	coding	Pathogenic
1	94060733	A	C	A94060733C	ABCA4	NM_000350.3(ABCA4):c.1964T>G:p.Phe655Cys	coding	Pathogenic/Likely_pathogenic
1	94060739	C	T	C94060739T	ABCA4	NM_000350.3(ABCA4):c.1958G>A:p.Arg653His	coding	Pathogenic/Likely_pathogenic
1	94060740	G	A	G94060740A	ABCA4	NM_000350.3(ABCA4):c.1957C>T:p.Arg653Cys	coding	Pathogenic/Likely_pathogenic
1	94060760	C	T	C94060760T	ABCA4	NM_000350.3(ABCA4):c.1938-1G>A	coding	Pathogenic
1	94062576	C	T	C94062576T	ABCA4	NM_000350.3(ABCA4):c.1937+1G>A	noncoding	Pathogenic
1	94062581	C	T	C94062581T	ABCA4	NM_000350.3(ABCA4):c.1933G>A:p.Asp645Asn	coding	Pathogenic/Likely_pathogenic
1	94062597	G	T	G94062597T	ABCA4	NM_000350.3(ABCA4):c.1917C>A:p.Tyr639Ter	coding	Pathogenic
1	94062602	G	A	G94062602A	ABCA4	NM_000350.3(ABCA4):c.1912C>T:p.Pro638Ser	coding	Pathogenic
1	94062608	G	A	G94062608A	ABCA4	NM_000350.3(ABCA4):c.1906C>T:p.Gln636Ter	coding	Pathogenic
1	94062611	G	A	G94062611A	ABCA4	NM_000350.3(ABCA4):c.1903C>T:p.Gln635Ter	coding	Pathogenic
1	94062636	C	T	C94062636T	ABCA4	NM_000350.3(ABCA4):c.1878G>A:p.Ala626=	coding	Benign
1	94062662	C	T	C94062662T	ABCA4	NM_000350.3(ABCA4):c.1852G>A:p.Gly618Arg	coding	Pathogenic
1	94062668	C	T	C94062668T	ABCA4	NM_000350.3(ABCA4):c.1846G>A:p.Glu616Lys	coding	Pathogenic
1	94062680	G	A	G94062680A	ABCA4	NM_000350.3(ABCA4):c.1834C>T:p.Gln612Ter	coding	Pathogenic
1	94062692	A	T	A94062692T	ABCA4	NM_000350.3(ABCA4):c.1822T>A:p.Phe608Ile	coding	Pathogenic
1	94062695	C	G	C94062695G	ABCA4	NM_000350.3(ABCA4):c.1819G>C:p.Gly607Arg	coding	Pathogenic
1	94062696	G	A	G94062696A	ABCA4	NM_000350.3(ABCA4):c.1818C>T:p.Gly606=	coding	Benign
1	94062710	G	A	G94062710A	ABCA4	NM_000350.3(ABCA4):c.1804C>T:p.Arg602Trp	coding	Pathogenic
1	94063110	A	C	A94063110C	ABCA4	NM_000350.3(ABCA4):c.1760+2T>G	noncoding	Pathogenic
1	94063157	C	G	C94063157G	ABCA4	NM_000350.3(ABCA4):c.1715G>C:p.Arg572Pro	coding	Pathogenic
1	94063158	G	A	G94063158A	ABCA4	NM_000350.3(ABCA4):c.1714C>T:p.Arg572Ter	coding	Pathogenic
1	94063224	C	T	C94063224T	ABCA4	NM_000350.3(ABCA4):c.1648G>A:p.Gly550Arg	coding	Pathogenic/Likely_pathogenic
1	94063263	G	A	G94063263A	ABCA4	NM_000350.3(ABCA4):c.1609C>T:p.Arg537Cys	coding	Pathogenic/Likely_pathogenic
1	94063280	T	C	T94063280C	ABCA4	NM_000350.3(ABCA4):c.1592A>G:p.Glu531Gly	coding	Pathogenic
1	94063288	G	T	G94063288T	ABCA4	NM_000350.3(ABCA4):c.1584C>A:p.Tyr528Ter	coding	Pathogenic
1	94063315	G	T	G94063315T	ABCA4	NM_000350.3(ABCA4):c.1557C>A:p.Cys519Ter	coding	Pathogenic
1	94077713	G	A	G94077713A	ABCA4	NM_000350.3(ABCA4):c.1531C>T:p.Arg511Cys	coding	Pathogenic/Likely_pathogenic
1	94077747	C	T	C94077747T	ABCA4	NM_000350.3(ABCA4):c.1497G>A:p.Trp499Ter	coding	Pathogenic/Likely_pathogenic
1	94077748	C	T	C94077748T	ABCA4	NM_000350.3(ABCA4):c.1496G>A:p.Trp499Ter	coding	Pathogenic
1	94077845	G	A	G94077845A	ABCA4	NM_000350.3(ABCA4):c.1399C>T:p.Gln467Ter	coding	Pathogenic
1	94077889	T	C	T94077889C	ABCA4	NM_000350.3(ABCA4):c.1357-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	94078629	C	T	C94078629T	ABCA4	NM_000350.3(ABCA4):c.1317G>A:p.Trp439Ter	coding	Pathogenic
1	94078653	C	T	C94078653T	ABCA4	NM_000350.3(ABCA4):c.1293G>A:p.Trp431Ter	coding	Pathogenic
1	94078677	G	A	G94078677A	ABCA4	NM_000350.3(ABCA4):c.1269C>T:p.His423=	coding	Benign/Likely_benign
1	94078678	T	C	T94078678C	ABCA4	NM_000350.3(ABCA4):c.1268A>G:p.His423Arg	coding	Benign/Likely_benign
1	94078693	A	G	A94078693G	ABCA4	NM_000350.3(ABCA4):c.1253T>C:p.Phe418Ser	coding	Pathogenic/Likely_pathogenic
1	94078720	G	A	G94078720A	ABCA4	NM_000350.3(ABCA4):c.1240-14C>T	noncoding	Benign
1	94079321	C	G	C94079321G	ABCA4	NM_000350.3(ABCA4):c.1239+1G>C	noncoding	Pathogenic
1	94079339	G	A	G94079339A	ABCA4	NM_000350.3(ABCA4):c.1222C>T:p.Arg408Ter	coding	Pathogenic
1	94079463	T	A	T94079463A	ABCA4	NM_000350.3(ABCA4):c.1100-2A>T	noncoding	Pathogenic
1	94080491	A	T	A94080491T	ABCA4	NM_000350.3(ABCA4):c.1086T>A:p.Tyr362Ter	coding	Pathogenic
1	94080511	T	A	T94080511A	ABCA4	NM_000350.3(ABCA4):c.1066A>T:p.Lys356Ter	coding	Pathogenic
1	94080559	A	C	A94080559C	ABCA4	NM_000350.3(ABCA4):c.1018T>G:p.Tyr340Asp	coding	Pathogenic
1	94080592	C	A	C94080592A	ABCA4	NM_000350.3(ABCA4):c.985G>T:p.Gly329Ter	coding	Pathogenic
1	94080595	C	A	C94080595A	ABCA4	NM_000350.3(ABCA4):c.982G>T:p.Glu328Ter	coding	Pathogenic
1	94080664	G	A	G94080664A	ABCA4	NM_000350.3(ABCA4):c.913C>T:p.Gln305Ter	coding	Pathogenic
1	94080697	G	A	G94080697A	ABCA4	NM_000350.3(ABCA4):c.880C>T:p.Gln294Ter	coding	Pathogenic
1	94080709	G	A	G94080709A	ABCA4	NM_000350.3(ABCA4):c.868C>T:p.Arg290Trp	coding	Pathogenic/Likely_pathogenic
1	94080727	A	G	A94080727G	ABCA4	NM_000350.3(ABCA4):c.859-9T>C	noncoding	Pathogenic
1	94083357	G	A	G94083357A	ABCA4	NM_000350.3(ABCA4):c.853C>T:p.Gln285Ter	coding	Pathogenic
1	94083473	A	G	A94083473G	ABCA4	NM_000350.3(ABCA4):c.769-32T>C	noncoding	Benign
1	94098794	C	A	C94098794A	ABCA4	NM_000350.3(ABCA4):c.768G>T:p.Val256=	coding	Pathogenic
1	94098799	G	A	G94098799A	ABCA4	NM_000350.3(ABCA4):c.763C>T:p.Arg255Cys	coding	Pathogenic
1	94098827	A	C	A94098827C	ABCA4	NM_000350.3(ABCA4):c.735T>G:p.Tyr245Ter	coding	Pathogenic
1	94098831	A	G	A94098831G	ABCA4	NM_000350.3(ABCA4):c.731T>C:p.Leu244Pro	coding	Pathogenic
1	94098846	C	T	C94098846T	ABCA4	NM_000350.3(ABCA4):c.716G>A:p.Trp239Ter	coding	Pathogenic
1	94098862	G	A	G94098862A	ABCA4	NM_000350.3(ABCA4):c.700C>T:p.Gln234Ter	coding	Pathogenic
1	94098874	A	T	A94098874T	ABCA4	NM_000350.3(ABCA4):c.688T>A:p.Cys230Ser	coding	Pathogenic
1	94098890	C	T	C94098890T	ABCA4	NM_000350.3(ABCA4):c.672G>A:p.Thr224=	coding	Benign
1	94098907	T	A	T94098907A	ABCA4	NM_000350.3(ABCA4):c.655A>T:p.Arg219Ter	coding	Pathogenic
1	94098927	C	T	C94098927T	ABCA4	NM_000350.3(ABCA4):c.635G>A:p.Arg212His	coding	Benign/Likely_benign
1	94098928	G	A	G94098928A	ABCA4	NM_000350.3(ABCA4):c.634C>T:p.Arg212Cys	coding	Pathogenic/Likely_pathogenic
1	94098992	C	A	C94098992A	ABCA4	NM_000350.3(ABCA4):c.571-1G>T	coding	Pathogenic/Likely_pathogenic
1	94098993	T	C	T94098993C	ABCA4	NM_000350.3(ABCA4):c.571-2A>G	noncoding	Pathogenic
1	94101127	T	C	T94101127C	ABCA4	NM_000350.3(ABCA4):c.570+1888A>G	noncoding	Benign
1	94102995	G	A	G94102995A	ABCA4	NM_000350.3(ABCA4):c.570+20C>T	noncoding	Benign
1	94103025	C	T	C94103025T	ABCA4	NM_000350.3(ABCA4):c.560G>A:p.Arg187His	coding	Pathogenic
1	94103107	C	A	C94103107A	ABCA4	NM_000350.3(ABCA4):c.478G>T:p.Glu160Ter	coding	Pathogenic
1	94103131	G	A	G94103131A	ABCA4	NM_000350.3(ABCA4):c.454C>T:p.Arg152Ter	coding	Pathogenic
1	94108700	G	A	G94108700A	ABCA4	NM_000350.3(ABCA4):c.319C>T:p.Arg107Ter	coding	Pathogenic
1	94111412	T	C	T94111412C	ABCA4	NM_000350.3(ABCA4):c.302+26A>G	noncoding	Benign
1	94111437	C	T	C94111437T	ABCA4	NM_000350.3(ABCA4):c.302+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	94111454	T	C	T94111454C	ABCA4	NM_000350.3(ABCA4):c.286A>G:p.Asn96Asp	coding	Pathogenic
1	94111503	A	G	A94111503G	ABCA4	NM_000350.3(ABCA4):c.237T>C:p.Asn79=	coding	Benign
1	94111526	C	T	C94111526T	ABCA4	NM_000350.3(ABCA4):c.214G>A:p.Gly72Arg	coding	Pathogenic/Likely_pathogenic
1	94111534	C	T	C94111534T	ABCA4	NM_000350.3(ABCA4):c.206G>A:p.Trp69Ter	coding	Pathogenic
1	94111537	G	C	G94111537C	ABCA4	NM_000350.3(ABCA4):c.203C>G:p.Pro68Arg	coding	Pathogenic/Likely_pathogenic
1	94111546	C	T	C94111546T	ABCA4	NM_000350.3(ABCA4):c.194G>A:p.Gly65Glu	coding	Pathogenic/Likely_pathogenic
1	94111561	G	A	G94111561A	ABCA4	NM_000350.3(ABCA4):c.179C>T:p.Ala60Val	coding	Pathogenic/Likely_pathogenic
1	94111579	C	A	C94111579A	ABCA4	NM_000350.3(ABCA4):c.161G>T:p.Cys54Phe	coding	Pathogenic
1	94111579	C	T	C94111579T	ABCA4	NM_000350.3(ABCA4):c.161G>A:p.Cys54Tyr	coding	Pathogenic/Likely_pathogenic
1	94112971	A	G	A94112971G	ABCA4	NM_000350.3(ABCA4):c.160+2T>C	noncoding	Pathogenic
1	94112992	T	C	T94112992C	ABCA4	NM_000350.3(ABCA4):c.141A>G:p.Pro47=	coding	Benign
1	94113010	C	T	C94113010T	ABCA4	NM_000350.3(ABCA4):c.123G>A:p.Trp41Ter	coding	Pathogenic
1	94113011	C	T	C94113011T	ABCA4	NM_000350.3(ABCA4):c.122G>A:p.Trp41Ter	coding	Pathogenic
1	94113040	C	T	C94113040T	ABCA4	NM_000350.3(ABCA4):c.93G>A:p.Trp31Ter	coding	Pathogenic
1	94113067	C	G	C94113067G	ABCA4	NM_000350.3(ABCA4):c.67-1G>C	coding	Pathogenic
1	94113068	T	C	T94113068C	ABCA4	NM_000350.3(ABCA4):c.67-2A>G	noncoding	Pathogenic
1	94120746	T	C	T94120746C	ABCA4	NM_000350.3(ABCA4):c.66+234A>G	noncoding	Benign
1	94120899	T	C	T94120899C	ABCA4	NM_000350.3(ABCA4):c.66+81A>G	noncoding	Benign
1	94120985	G	A	G94120985A	ABCA4	NM_000350.3(ABCA4):c.61C>T:p.Gln21Ter	coding	Pathogenic
1	94120994	G	A	G94120994A	ABCA4	NM_000350.3(ABCA4):c.52C>T:p.Arg18Trp	coding	Pathogenic/Likely_pathogenic
1	94121001	C	T	C94121001T	ABCA4	NM_000350.3(ABCA4):c.45G>A:p.Trp15Ter	coding	Pathogenic
1	94121010	C	T	C94121010T	ABCA4	NM_000350.3(ABCA4):c.36G>A:p.Trp12Ter	coding	Pathogenic
1	94121014	A	G	A94121014G	ABCA4	NM_000350.3(ABCA4):c.32T>C:p.Leu11Pro	coding	Pathogenic
1	94121043	C	A	C94121043A	ABCA4	NM_000350.3(ABCA4):c.3G>T:p.Met1Ile	coding	Pathogenic
1	94121045	T	C	T94121045C	ABCA4	NM_000350.3(ABCA4):c.1A>G:p.Met1Val	coding	Pathogenic
1	94174289	A	T	A94174289T	ARHGAP29	NM_004815.4(ARHGAP29):c.3366T>A:p.Thr1122=	coding	Benign
1	94174310	C	T	C94174310T	ARHGAP29	NM_004815.4(ARHGAP29):c.3345G>A:p.Gly1115=	coding	Benign
1	94174373	A	G	A94174373G	ARHGAP29	NM_004815.4(ARHGAP29):c.3282T>C:p.Thr1094=	coding	Benign
1	94177604	C	T	C94177604T	ARHGAP29	NM_004815.4(ARHGAP29):c.2905+8G>A	noncoding	Benign
1	94177640	C	T	C94177640T	ARHGAP29	NM_004815.4(ARHGAP29):c.2877G>A:p.Ala959=	coding	Benign
1	94184871	C	T	C94184871T	ARHGAP29	NM_004815.4(ARHGAP29):c.2109+1G>A	noncoding	Pathogenic
1	94185341	C	T	C94185341T	ARHGAP29	NM_004815.4(ARHGAP29):c.1920+1G>A	noncoding	Pathogenic
1	94186506	T	C	T94186506C	ARHGAP29	NM_004815.4(ARHGAP29):c.1773A>G:p.Ser591=	coding	Benign
1	94189317	G	T	G94189317T	ARHGAP29	NM_004815.4(ARHGAP29):c.1475C>A:p.Ser492Ter	coding	Pathogenic
1	94201749	C	T	C94201749T	ARHGAP29	NM_004815.4(ARHGAP29):c.1252G>A:p.Val418Ile	coding	Benign
1	94203995	C	G	C94203995G	ARHGAP29	NM_004815.4(ARHGAP29):c.698-1G>C	coding	Pathogenic
1	94464782	G	T	G94464782T	ABCD3	NM_002858.4(ABCD3):c.155G>T:p.Gly52Val	coding	Benign
1	94464789	G	A	G94464789A	ABCD3	NM_002858.4(ABCD3):c.162G>A:p.Lys54=	coding	Benign
1	94480455	T	C	T94480455C	ABCD3	NM_002858.4(ABCD3):c.685-9T>C	noncoding	Benign
1	94489702	G	C	G94489702C	ABCD3	NM_002858.4(ABCD3):c.1158-23G>C	noncoding	Benign
1	94491217	A	G	A94491217G	ABCD3	NM_002858.4(ABCD3):c.1356A>G:p.Gly452=	coding	Benign
1	94491235	C	T	C94491235T	ABCD3	NM_002858.4(ABCD3):c.1374C>T:p.Asp458=	coding	Benign
1	94530506	C	T	C94530506T	F3	NM_001993.5(F3):c.842G>A:p.Gly281Glu	coding	Benign
1	94533194	G	A	G94533194A	F3	NM_001993.5(F3):c.487C>T:p.Arg163Trp	coding	Benign
1	94536099	T	C	T94536099C	F3	NM_001993.5(F3):c.278A>G:p.Asp93Gly	coding	Benign
1	94540363	T	C	T94540363C	F3	NM_001993.5(F3):c.106A>G:p.Thr36Ala	coding	Benign
1	95027239	G	A	G95027239A	ALG14	NM_144988.4(ALG14):c.310C>T:p.Arg104Ter	coding	Pathogenic
1	95027258	A	G	A95027258G	ALG14	NM_144988.4(ALG14):c.291T>C:p.Tyr97=	coding	Benign
1	95064960	G	A	G95064960A	ALG14	NM_144988.4(ALG14):c.194C>T:p.Pro65Leu	coding	Pathogenic
1	95064983	C	T	C95064983T	ALG14	NM_144988.4(ALG14):c.171G>A:p.Gly57=	coding	Benign
1	95065035	A	T	A95065035T	ALG14	NM_144988.4(ALG14):c.137-18T>A	noncoding	Benign
1	95072868	C	T	C95072868T	ALG14	NM_144988.4(ALG14):c.31G>A:p.Ala11Thr	coding	Benign/Likely_benign
1	96751419	T	C	T96751419C	PTBP2	NM_001300987.2(PTBP2):c.73-6T>C	noncoding	Benign
1	96769734	A	G	A96769734G	PTBP2	NM_001300987.2(PTBP2):c.180A>G:p.Gly60=	coding	Benign
1	96785115	C	T	C96785115T	PTBP2	NM_001300987.2(PTBP2):c.798C>T:p.Ser266=	coding	Benign
1	97078196	G	A	G97078196A	DPYD	NM_000110.4(DPYD):c.*780C>T	noncoding	Benign
1	97078208	C	T	C97078208T	DPYD	NM_000110.4(DPYD):c.*768G>A	noncoding	Benign
1	97078403	C	T	C97078403T	DPYD	NM_000110.4(DPYD):c.*573G>A	noncoding	Benign
1	97078702	A	G	A97078702G	DPYD	NM_000110.3(DPYD):c.*274T>C	noncoding	Benign
1	97079133	T	A	T97079133A	DPYD	NM_000110.3(DPYD):c.2921A>T:p.Asp974Val	coding	Pathogenic
1	97305283	G	A	G97305283A	DPYD	NM_000110.3(DPYD):c.2275C>T:p.Arg759Ter	coding	Pathogenic/Likely_pathogenic
1	97305364	C	T	C97305364T	DPYD	NM_000110.4(DPYD):c.2194G>A:p.Val732Ile	coding	Benign/Likely_benign
1	97450068	A	G	A97450068G	DPYD	NM_000110.4(DPYD):c.1896T>C:p.Phe632=	coding	Benign
1	97515839	T	C	T97515839C	DPYD	NM_000110.4(DPYD):c.1627A>G:p.Ile543Val	coding	Benign
1	97549590	T	C	T97549590C	DPYD	NM_000110.4(DPYD):c.1494A>G:p.Gln498=	coding	Benign
1	97549713	G	A	G97549713A	DPYD	NM_000110.4(DPYD):c.1371C>T:p.Asn457=	coding	Benign
1	97573863	C	T	C97573863T	DPYD	NM_000110.4(DPYD):c.1236G>A:p.Glu412=	coding	Benign/Likely_benign
1	97573985	A	G	A97573985G	DPYD	NM_000110.4(DPYD):c.1129-15T>C	noncoding	Benign
1	97679184	T	C	T97679184C	DPYD	NM_000110.3(DPYD):c.763-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	97691806	G	A	G97691806A	DPYD	NM_000110.3(DPYD):c.681-8C>T	noncoding	Benign/Likely_benign
1	97699370	C	A	C97699370A	DPYD	NM_000110.3(DPYD):c.661G>T:p.Glu221Ter	coding	Pathogenic/Likely_pathogenic
1	97699535	T	C	T97699535C	DPYD	NM_000110.4(DPYD):c.496A>G:p.Met166Val	coding	Benign/Likely_benign
1	97720909	G	C	G97720909C	DPYD	NM_001160301.1(DPYD):c.501C>G:p.Phe167Leu	coding	Benign
1	97721492	C	T	C97721492T	DPYD	NM_000110.4(DPYD):c.483+18G>A	noncoding	Benign
1	97828139	G	A	G97828139A	DPYD	NM_001160301.1(DPYD):c.208C>T:p.Arg70Ter	coding	Pathogenic/Likely_pathogenic
1	97883329	A	G	A97883329G	DPYD	NM_001160301.1(DPYD):c.85T>C:p.Cys29Arg	coding	Benign
1	98695628	C	A	C98695628A	SNX7	NM_015976.5(SNX7):c.750C>A:p.Phe250Leu	coding	Benign
1	99288102	T	A	T99288102A	PLPPR4	NM_014839.4(PLPPR4):c.360T>A:p.Ile120=	coding	Benign
1	99667734	C	A	C99667734A	PALMD	NM_017734.5(PALMD):c.219C>A:p.His73Gln	coding	Benign
1	99689076	A	T	A99689076T	PALMD	NM_017734.5(PALMD):c.816A>T:p.Pro272=	coding	Benign
1	99689637	G	T	G99689637T	PALMD	NM_017734.5(PALMD):c.1377G>T:p.Glu459Asp	coding	Benign
1	99689643	G	A	G99689643A	PALMD	NM_017734.5(PALMD):c.1383G>A:p.Pro461=	coding	Benign
1	99689766	T	C	T99689766C	PALMD	NM_017734.5(PALMD):c.1506T>C:p.Asn502=	coding	Benign
1	99851033	A	G	A99851033G	AGL	NM_000642.3(AGL):c.-10A>G	noncoding	Benign
1	99851058	C	T	C99851058T	AGL	NM_000642.3(AGL):c.16C>T:p.Gln6Ter	coding	Pathogenic/Likely_pathogenic
1	99851064	C	T	C99851064T	AGL	NM_000642.3(AGL):c.22C>T:p.Arg8Ter	coding	Pathogenic/Likely_pathogenic
1	99851081	C	T	C99851081T	AGL	NM_000642.3(AGL):c.39C>T:p.Asn13=	coding	Benign/Likely_benign
1	99851209	C	T	C99851209T	AGL	NM_000642.3(AGL):c.82+85C>T	noncoding	Benign
1	99861470	C	T	C99861470T	AGL	NM_000642.3(AGL):c.83-33C>T	coding	Benign
1	99861520	C	T	C99861520T	AGL	NM_000642.3(AGL):c.100C>T:p.Arg34Ter	coding	Pathogenic/Likely_pathogenic
1	99861532	A	G	A99861532G	AGL	NM_000642.3(AGL):c.112A>G:p.Thr38Ala	coding	Benign/Likely_benign
1	99861538	C	T	C99861538T	AGL	NM_000642.3(AGL):c.118C>T:p.Gln40Ter	coding	Pathogenic/Likely_pathogenic
1	99861627	T	C	T99861627C	AGL	NM_000642.3(AGL):c.207T>C:p.Asn69=	coding	Benign
1	99861676	C	T	C99861676T	AGL	NM_000642.3(AGL):c.256C>T:p.Gln86Ter	coding	Pathogenic/Likely_pathogenic
1	99861709	C	T	C99861709T	AGL	NM_000642.3(AGL):c.289C>T:p.Gln97Ter	coding	Pathogenic
1	99861925	C	A	C99861925A	AGL	NM_000642.3(AGL):c.293+212C>A	noncoding	Benign
1	99862341	T	A	T99862341A	AGL	NM_000642.3(AGL):c.378T>A:p.Cys126Ter	coding	Pathogenic
1	99864107	A	C	A99864107C	AGL	NM_000642.3(AGL):c.461-279A>C	noncoding	Benign
1	99864333	G	C	G99864333C	AGL	NM_000642.3(AGL):c.461-53G>C	noncoding	Benign
1	99864501	T	G	T99864501G	AGL	NM_000642.3(AGL):c.576T>G:p.Tyr192Ter	coding	Pathogenic
1	99864520	C	T	C99864520T	AGL	NM_000642.3(AGL):c.595C>T:p.Gln199Ter	coding	Pathogenic
1	99864592	A	G	A99864592G	AGL	NM_000642.3(AGL):c.664+3A>G	noncoding	Pathogenic/Likely_pathogenic
1	99864739	T	C	T99864739C	AGL	NM_000642.3(AGL):c.664+150T>C	noncoding	Benign
1	99870232	A	G	A99870232G	AGL	NM_000642.3(AGL):c.665-168A>G	noncoding	Benign
1	99870421	A	G	A99870421G	AGL	NM_000642.3(AGL):c.686A>G:p.Gln229Arg	coding	Benign
1	99870764	C	T	C99870764T	AGL	NM_000642.3(AGL):c.853C>T:p.Arg285Ter	coding	Pathogenic
1	99870805	C	T	C99870805T	AGL	NM_000642.3(AGL):c.894C>T:p.Leu298=	coding	Benign
1	99870818	C	T	C99870818T	AGL	NM_000642.3(AGL):c.907C>T:p.Gln303Ter	coding	Pathogenic
1	99870870	G	A	G99870870A	AGL	NM_000642.3(AGL):c.958+1G>A	coding	Pathogenic
1	99870870	G	T	G99870870T	AGL	NM_000642.3(AGL):c.958+1G>T	coding	Pathogenic
1	99874387	T	C	T99874387C	AGL	NM_000642.3(AGL):c.959-300T>C	noncoding	Benign
1	99874669	G	A	G99874669A	AGL	NM_000642.3(AGL):c.959-18G>A	noncoding	Benign
1	99874695	C	T	C99874695T	AGL	NM_000642.3(AGL):c.967C>T:p.Arg323Ter	coding	Pathogenic
1	99875152	A	G	A99875152G	AGL	NM_000642.3(AGL):c.1083-2A>G	noncoding	Pathogenic
1	99875226	G	T	G99875226T	AGL	NM_000642.3(AGL):c.1155G>T:p.Lys385Asn	coding	Benign/Likely_benign
1	99875231	G	A	G99875231A	AGL	NM_000642.3(AGL):c.1160G>A:p.Arg387Gln	coding	Benign
1	99875251	G	T	G99875251T	AGL	NM_000642.3(AGL):c.1180G>T:p.Glu394Ter	coding	Pathogenic
1	99875271	T	C	T99875271C	AGL	NM_000642.3(AGL):c.1185+15T>C	noncoding	Benign
1	99875394	C	T	C99875394T	AGL	NM_000642.3(AGL):c.1222C>T:p.Arg408Ter	coding	Pathogenic
1	99876493	C	T	C99876493T	AGL	NM_000642.3(AGL):c.1319C>T:p.Ser440Phe	coding	Benign/Likely_benign
1	99876598	G	C	G99876598C	AGL	NM_000642.3(AGL):c.1423+1G>C	coding	Pathogenic
1	99877597	A	G	A99877597G	AGL	NM_000642.3(AGL):c.1424-44A>G	noncoding	Benign
1	99877654	C	A	C99877654A	AGL	NM_000642.3(AGL):c.1437C>A:p.Tyr479Ter	coding	Pathogenic
1	99877788	G	A	G99877788A	AGL	NM_000642.3(AGL):c.1571G>A:p.Arg524His	coding	Pathogenic
1	99877806	C	G	C99877806G	AGL	NM_000642.3(AGL):c.1589C>G:p.Ser530Ter	coding	Pathogenic
1	99877819	C	T	C99877819T	AGL	NM_000642.3(AGL):c.1602C>T:p.His534=	coding	Benign/Likely_benign
1	99879925	C	G	C99879925G	AGL	NM_000642.3(AGL):c.1614C>G:p.Tyr538Ter	coding	Pathogenic
1	99880047	G	T	G99880047T	AGL	NM_000642.3(AGL):c.1735+1G>T	coding	Pathogenic/Likely_pathogenic
1	99880679	C	T	C99880679T	AGL	NM_000642.3(AGL):c.1783C>T:p.Arg595Ter	coding	Pathogenic
1	99881074	A	G	A99881074G	AGL	NM_000642.3(AGL):c.1900-2A>G	noncoding	Pathogenic
1	99881182	G	A	G99881182A	AGL	NM_000642.3(AGL):c.2001+5G>A	noncoding	Pathogenic
1	99881185	T	C	T99881185C	AGL	NM_000642.3(AGL):c.2001+8T>C	noncoding	Benign
1	99881329	G	A	G99881329A	AGL	NM_000642.3(AGL):c.2039G>A:p.Trp680Ter	coding	Pathogenic/Likely_pathogenic
1	99881373	C	T	C99881373T	AGL	NM_000642.3(AGL):c.2083C>T:p.Gln695Ter	coding	Pathogenic
1	99881445	C	T	C99881445T	AGL	NM_000642.3(AGL):c.2155C>T:p.Gln719Ter	coding	Pathogenic
1	99881540	G	A	G99881540A	AGL	NM_000642.3(AGL):c.2158-1G>A	noncoding	Pathogenic
1	99881663	C	T	C99881663T	AGL	NM_000642.3(AGL):c.2280C>T:p.Ser760=	coding	Benign
1	99883825	A	C	A99883825C	AGL	NM_000642.3(AGL):c.2309-295A>C	noncoding	Benign
1	99884119	G	A	G99884119A	AGL	NM_000642.3(AGL):c.2309-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	99884195	C	A	C99884195A	AGL	NM_000642.3(AGL):c.2384C>A:p.Ser795Ter	coding	Pathogenic
1	99884461	T	C	T99884461C	AGL	NM_000642.3(AGL):c.2546+10T>C	noncoding	Benign/Likely_benign
1	99884612	C	T	C99884612T	AGL	NM_000642.3(AGL):c.2590C>T:p.Arg864Ter	coding	Pathogenic
1	99884704	G	A	G99884704A	AGL	NM_000642.3(AGL):c.2681+1G>A	coding	Pathogenic
1	99884704	G	T	G99884704T	AGL	NM_000642.3(AGL):c.2681+1G>T	coding	Pathogenic
1	99888023	C	G	C99888023G	AGL	NM_000642.3(AGL):c.2727C>G:p.Tyr909Ter	coding	Pathogenic
1	99888024	C	T	C99888024T	AGL	NM_000642.3(AGL):c.2728C>T:p.Arg910Ter	coding	Pathogenic
1	99888095	T	G	T99888095G	AGL	NM_000642.3(AGL):c.2799T>G:p.Tyr933Ter	coding	Pathogenic
1	99888098	A	C	A99888098C	AGL	NM_000642.3(AGL):c.2802A>C:p.Ala934=	coding	Benign
1	99888119	G	A	G99888119A	AGL	NM_000642.3(AGL):c.2812+11G>A	noncoding	Benign
1	99891110	C	T	C99891110T	AGL	NM_000642.3(AGL):c.2813-110C>T	noncoding	Benign
1	99891290	A	G	A99891290G	AGL	NM_000642.3(AGL):c.2883A>G:p.Arg961=	coding	Benign/Likely_benign
1	99891292	C	G	C99891292G	AGL	NM_000642.3(AGL):c.2885C>G:p.Ser962Cys	coding	Benign
1	99891336	C	T	C99891336T	AGL	NM_000642.3(AGL):c.2929C>T:p.Arg977Ter	coding	Pathogenic/Likely_pathogenic
1	99891585	T	A	T99891585A	AGL	NM_000642.3(AGL):c.2950-21T>A	noncoding	Benign
1	99891604	A	G	A99891604G	AGL	NM_000642.3(AGL):c.2950-2A>G	noncoding	Pathogenic
1	99891616	G	A	G99891616A	AGL	NM_000642.3(AGL):c.2960G>A:p.Trp987Ter	coding	Pathogenic
1	99892424	T	C	T99892424C	AGL	NM_000642.3(AGL):c.3084-8T>C	noncoding	Benign/Likely_benign
1	99892527	C	G	C99892527G	AGL	NM_000642.3(AGL):c.3179C>G:p.Ser1060Ter	coding	Pathogenic
1	99892547	C	T	C99892547T	AGL	NM_000642.3(AGL):c.3199C>T:p.Pro1067Ser	coding	Benign
1	99892551	A	G	A99892551G	AGL	NM_000642.3(AGL):c.3203A>G:p.Tyr1068Cys	coding	Benign
1	99892644	G	A	G99892644A	AGL	NM_000642.3(AGL):c.3259+37G>A	noncoding	Benign
1	99892895	G	A	G99892895A	AGL	NM_000642.3(AGL):c.3259+288G>A	noncoding	Benign
1	99896266	T	C	T99896266C	AGL	NM_000642.3(AGL):c.3260-20T>C	noncoding	Benign/Likely_benign
1	99896267	G	A	G99896267A	AGL	NM_000642.3(AGL):c.3260-19G>A	noncoding	Benign
1	99896369	G	A	G99896369A	AGL	NM_000642.3(AGL):c.3343G>A:p.Gly1115Arg	coding	Benign
1	99896624	G	A	G99896624A	AGL	NM_000642.3(AGL):c.3362+236G>A	noncoding	Benign
1	99900657	G	A	G99900657A	AGL	NM_000642.3(AGL):c.3384G>A:p.Ala1128=	coding	Benign/Likely_benign
1	99900712	A	G	A99900712G	AGL	NM_000642.3(AGL):c.3439A>G:p.Arg1147Gly	coding	Pathogenic
1	99900717	C	A	C99900717A	AGL	NM_000642.3(AGL):c.3444C>A:p.Tyr1148Ter	coding	Pathogenic
1	99900738	G	A	G99900738A	AGL	NM_000642.3(AGL):c.3465G>A:p.Trp1155Ter	coding	Pathogenic
1	99900765	C	G	C99900765G	AGL	NM_000642.3(AGL):c.3492C>G:p.Tyr1164Ter	coding	Pathogenic
1	99900897	T	G	T99900897G	AGL	NM_000642.3(AGL):c.3588+36T>G	noncoding	Benign
1	99902707	C	T	C99902707T	AGL	NM_000642.3(AGL):c.3613C>T:p.Gln1205Ter	coding	Pathogenic/Likely_pathogenic
1	99902731	C	T	C99902731T	AGL	NM_000642.3(AGL):c.3637C>T:p.Gln1213Ter	coding	Pathogenic
1	99902746	C	T	C99902746T	AGL	NM_000642.3(AGL):c.3652C>T:p.Arg1218Ter	coding	Pathogenic
1	99902776	C	T	C99902776T	AGL	NM_000642.3(AGL):c.3682C>T:p.Arg1228Ter	coding	Pathogenic/Likely_pathogenic
1	99902826	T	C	T99902826C	AGL	NM_000642.3(AGL):c.3700+32T>C	noncoding	Benign
1	99903084	A	G	A99903084G	AGL	NM_000642.3(AGL):c.3700+290A>G	noncoding	Benign
1	99910769	G	A	G99910769A	AGL	NM_000642.3(AGL):c.3758G>A:p.Arg1253His	coding	Benign/Likely_benign
1	99910803	A	T	A99910803T	AGL	NM_000642.3(AGL):c.3792A>T:p.Gly1264=	coding	Benign/Likely_benign
1	99910848	G	A	G99910848A	AGL	NM_000642.3(AGL):c.3836+1G>A	coding	Pathogenic
1	99910892	G	A	G99910892A	AGL	NM_000642.3(AGL):c.3836+45G>A	noncoding	Benign
1	99912404	G	A	G99912404A	AGL	NM_000642.3(AGL):c.3837-1G>A	noncoding	Pathogenic
1	99912417	T	C	T99912417C	AGL	NM_000642.3(AGL):c.3849T>C:p.Ala1283=	coding	Benign
1	99913557	G	A	G99913557A	AGL	NM_000642.3(AGL):c.3980G>A:p.Trp1327Ter	coding	Pathogenic
1	99913604	G	A	G99913604A	AGL	NM_000642.3(AGL):c.4027G>A:p.Glu1343Lys	coding	Benign/Likely_benign
1	99913620	T	G	T99913620G	AGL	NM_000642.3(AGL):c.4043T>G:p.Leu1348Ter	coding	Pathogenic
1	99913664	A	T	A99913664T	AGL	NM_000642.3(AGL):c.4087A>T:p.Lys1363Ter	coding	Pathogenic
1	99915378	G	A	G99915378A	AGL	NM_000642.3(AGL):c.4162-11G>A	noncoding	Benign
1	99915420	G	A	G99915420A	AGL	NM_000642.3(AGL):c.4193G>A:p.Trp1398Ter	coding	Pathogenic
1	99916398	A	G	A99916398G	AGL	NM_000642.3(AGL):c.4260-12A>G	noncoding	Pathogenic/Likely_pathogenic
1	99916492	G	C	G99916492C	AGL	NM_000642.3(AGL):c.4342G>C:p.Gly1448Arg	coding	Pathogenic
1	99916498	G	A	G99916498A	AGL	NM_000642.3(AGL):c.4347+1G>A	coding	Pathogenic
1	99916498	G	C	G99916498C	AGL	NM_000642.3(AGL):c.4347+1G>C	coding	Pathogenic
1	99916603	G	T	G99916603T	AGL	NM_000642.3(AGL):c.4353G>T:p.Trp1451Cys	coding	Pathogenic/Likely_pathogenic
1	99916621	T	G	T99916621G	AGL	NM_000642.3(AGL):c.4371T>G:p.Tyr1457Ter	coding	Pathogenic
1	99916680	C	G	C99916680G	AGL	NM_000642.3(AGL):c.4430C>G:p.Thr1477Ser	coding	Benign/Likely_benign
1	99921577	C	T	C99921577T	AGL	NM_000642.3(AGL):c.4525C>T:p.Gln1509Ter	coding	Pathogenic
1	99921923	G	T	G99921923T	AGL	NM_000642.3(AGL):c.*272G>T	noncoding	Benign
1	99922226	G	T	G99922226T	AGL	NM_000642.3(AGL):c.*575G>T	noncoding	Benign
1	99922383	C	T	C99922383T	AGL	NM_000642.3(AGL):c.*732C>T	noncoding	Benign
1	99922390	A	G	A99922390G	AGL	NM_000642.3(AGL):c.*739A>G	noncoding	Benign
1	99922679	C	T	C99922679T	AGL	NM_000642.3(AGL):c.*1028C>T	noncoding	Benign
1	99922895	T	A	T99922895A	AGL	NM_000642.3(AGL):c.*1244T>A	noncoding	Benign
1	99922947	A	C	A99922947C	AGL	NM_000642.3(AGL):c.*1296A>C	noncoding	Benign
1	99923192	T	C	T99923192C	AGL	NM_000642.3(AGL):c.*1541T>C	noncoding	Benign
1	99993560	C	T	C99993560T	SLC35A3	NM_012243.3(SLC35A3):c.6C>T:p.Phe2=	coding	Benign
1	99993576	G	A	G99993576A	SLC35A3	NM_012243.3(SLC35A3):c.22G>A:p.Val8Ile	coding	Benign
1	100007048	A	G	A100007048G	SLC35A3	NM_012243.3(SLC35A3):c.357A>G:p.Leu119=	coding	Benign
1	100011413	C	T	C100011413T	SLC35A3	NM_012243.3(SLC35A3):c.514C>T:p.Gln172Ter	coding	Pathogenic
1	100011430	G	C	G100011430C	SLC35A3	NM_012243.3(SLC35A3):c.531G>C:p.Met177Ile	coding	Benign
1	100015391	C	T	C100015391T	SLC35A3	NM_012243.3(SLC35A3):c.724C>T:p.Arg242Ter	coding	Pathogenic
1	100015418	C	T	C100015418T	SLC35A3	NM_012243.3(SLC35A3):c.751C>T:p.Gln251Ter	coding	Pathogenic
1	100017814	A	G	A100017814G	SLC35A3	NM_012243.3(SLC35A3):c.886A>G:p.Ser296Gly	coding	Pathogenic
1	100085367	C	T	C100085367T	SASS6	NM_194292.3(SASS6):c.1935G>A:p.Ala645=	coding	Benign
1	100085534	A	T	A100085534T	SASS6	NM_194292.3(SASS6):c.1867+2T>A	noncoding	Pathogenic
1	100085568	C	T	C100085568T	SASS6	NM_194292.3(SASS6):c.1835G>A:p.Arg612His	coding	Benign
1	100106905	T	C	T100106905C	SASS6	NM_194292.3(SASS6):c.1408+7A>G	noncoding	Benign
1	100110418	T	C	T100110418C	SASS6	NM_194292.3(SASS6):c.735A>G:p.Gln245=	coding	Benign
1	100119087	C	T	C100119087T	SASS6	NM_194292.3(SASS6):c.600G>A:p.Ala200=	coding	Benign
1	100121492	T	C	T100121492C	SASS6	NM_194292.3(SASS6):c.369A>G:p.Leu123=	coding	Benign
1	100121553	T	G	T100121553G	SASS6	NM_194292.3(SASS6):c.312-4A>C	noncoding	Benign
1	100123231	A	G	A100123231G	SASS6	NM_194292.3(SASS6):c.185T>C:p.Ile62Thr	coding	Pathogenic
1	100123302	T	C	T100123302C	SASS6	NM_194292.3(SASS6):c.127-13A>G	noncoding	Pathogenic
1	100125922	C	T	C100125922T	SASS6	NM_194292.3(SASS6):c.86G>A:p.Ser29Asn	coding	Benign/Likely_benign
1	100159391	G	A	G100159391A	LRRC39	NM_001256385.1(LRRC39):c.244C>T:p.Leu82=	coding	Benign
1	100187173	G	A	G100187173A	DBT	NM_001918.4(DBT):c.*9082C>T	noncoding	Benign
1	100187278	A	G	A100187278G	DBT	NM_001918.4(DBT):c.*8977T>C	noncoding	Benign
1	100187311	T	C	T100187311C	DBT	NM_001918.4(DBT):c.*8944A>G	noncoding	Benign
1	100188897	G	A	G100188897A	DBT	NM_001918.4(DBT):c.*7358C>T	noncoding	Benign
1	100189609	C	A	C100189609A	DBT	NM_001918.4(DBT):c.*6646G>T	noncoding	Benign
1	100190938	A	G	A100190938G	DBT	NM_001918.4(DBT):c.*5317T>C	noncoding	Benign
1	100191105	T	C	T100191105C	DBT	NM_001918.4(DBT):c.*5150A>G	noncoding	Benign
1	100192161	G	T	G100192161T	DBT	NM_001918.4(DBT):c.*4094C>A	noncoding	Benign
1	100193022	G	A	G100193022A	DBT	NM_001918.4(DBT):c.*3233C>T	noncoding	Benign
1	100193445	T	C	T100193445C	DBT	NM_001918.4(DBT):c.*2810A>G	noncoding	Benign
1	100195270	G	A	G100195270A	DBT	NM_001918.4(DBT):c.*985C>T	noncoding	Benign
1	100195661	T	C	T100195661C	DBT	NM_001918.4(DBT):c.*594A>G	noncoding	Benign
1	100195785	C	T	C100195785T	DBT	NM_001918.4(DBT):c.*470G>A	noncoding	Benign
1	100196256	C	A	C100196256A	DBT	NM_001918.4(DBT):c.1448G>T:p.Ter483Leu	coding	Pathogenic
1	100196349	T	C	T100196349C	DBT	NM_001918.4(DBT):c.1355A>G:p.His452Arg	coding	Pathogenic
1	100196413	G	A	G100196413A	DBT	NM_001918.4(DBT):c.1291C>T:p.Arg431Ter	coding	Pathogenic/Likely_pathogenic
1	100206199	A	C	A100206199C	DBT	NM_001918.4(DBT):c.1281+31T>G	noncoding	Benign/Likely_benign
1	100206224	A	C	A100206224C	DBT	NM_001918.4(DBT):c.1281+6T>G	noncoding	Benign/Likely_benign
1	100206309	T	A	T100206309A	DBT	NM_001918.4(DBT):c.1210-8A>T	noncoding	Benign/Likely_benign
1	100206310	T	A	T100206310A	DBT	NM_001918.4(DBT):c.1210-9A>T	noncoding	Benign
1	100206311	A	T	A100206311T	DBT	NM_001918.4(DBT):c.1210-10T>A	noncoding	Benign
1	100206444	C	T	C100206444T	DBT	NM_001918.5(DBT):c.1209+1G>A	noncoding	Pathogenic
1	100206504	T	C	T100206504C	DBT	NM_001918.4(DBT):c.1150=:p.Gly384=	coding	Benign
1	100206621	C	T	C100206621T	DBT	NM_001918.4(DBT):c.1033G>A:p.Gly345Arg	coding	Pathogenic
1	100207476	A	G	A100207476G	DBT	NM_001918.4(DBT):c.1018-840T>C	noncoding	Benign
1	100214817	C	G	C100214817G	DBT	NM_001918.4(DBT):c.939G>C:p.Lys313Asn	coding	Pathogenic/Likely_pathogenic
1	100214854	C	T	C100214854T	DBT	NM_001918.4(DBT):c.902G>A:p.Arg301His	coding	Pathogenic
1	100214855	G	A	G100214855A	DBT	NM_001918.4(DBT):c.901C>T:p.Arg301Cys	coding	Pathogenic/Likely_pathogenic
1	100214885	G	A	G100214885A	DBT	NM_001918.4(DBT):c.871C>T:p.Arg291Ter	coding	Pathogenic
1	100214929	A	C	A100214929C	DBT	NM_001918.4(DBT):c.827T>G:p.Phe276Cys	coding	Pathogenic/Likely_pathogenic
1	100214985	T	C	T100214985C	DBT	NM_001918.4(DBT):c.773-2A>G	noncoding	Pathogenic
1	100216008	G	T	G100216008T	DBT	NM_001918.4(DBT):c.747C>A:p.Gly249=	coding	Benign/Likely_benign
1	100216031	A	G	A100216031G	DBT	NM_001918.4(DBT):c.724T>C:p.Ser242Pro	coding	Benign/Likely_benign
1	100216040	T	C	T100216040C	DBT	NM_001918.4(DBT):c.715A>G:p.Ile239Val	coding	Benign
1	100216085	C	A	C100216085A	DBT	NM_001918.4(DBT):c.670G>T:p.Glu224Ter	coding	Pathogenic
1	100216174	G	C	G100216174C	DBT	NM_001918.4(DBT):c.581C>G:p.Ser194Ter	coding	Pathogenic
1	100218350	G	T	G100218350T	DBT	NM_001918.4(DBT):c.555+276C>A	noncoding	Benign
1	100218675	C	T	C100218675T	DBT	NM_001918.4(DBT):c.506G>A:p.Arg169Gln	coding	Benign
1	100230433	A	C	A100230433C	DBT	NM_001918.4(DBT):c.433+300T>G	noncoding	Benign
1	100230732	C	A	C100230732A	DBT	NM_001918.4(DBT):c.433+1G>T	noncoding	Pathogenic
1	100230872	G	C	G100230872C	DBT	NM_001918.4(DBT):c.294C>G:p.Ile98Met	coding	Pathogenic
1	100230914	C	A	C100230914A	DBT	NM_001918.5(DBT):c.252G>T:p.Trp84Cys	coding	Pathogenic
1	100235436	C	T	C100235436T	DBT	NM_001918.4(DBT):c.251G>A:p.Trp84Ter	coding	Pathogenic
1	100240724	C	T	C100240724T	DBT	NM_001918.4(DBT):c.175+37G>A	noncoding	Benign
1	100240810	A	C	A100240810C	DBT	NM_001918.4(DBT):c.126T>G:p.Tyr42Ter	coding	Pathogenic/Likely_pathogenic
1	100240860	A	G	A100240860G	DBT	NM_001918.4(DBT):c.76T>C:p.Cys26Arg	coding	Benign/Likely_benign
1	100249769	C	A	C100249769A	DBT	NM_001918.4(DBT):c.51+1G>T	noncoding	Pathogenic
1	100249784	T	C	T100249784C	DBT	NM_001918.4(DBT):c.37A>G:p.Asn13Asp	coding	Benign/Likely_benign
1	100274929	T	C	T100274929C	RTCA	NM_001130841.1(RTCA):c.618T>C:p.Tyr206=	coding	Benign
1	100353717	T	C	T100353717C	CDC14A	NM_003672.4(CDC14A):c.50-45T>C	noncoding	Benign
1	100390824	A	C	A100390824C	CDC14A	NM_003672.4(CDC14A):c.309A>C:p.Ala103=	coding	Benign
1	100439959	C	G	C100439959G	CDC14A	NM_003672.4(CDC14A):c.417C>G:p.Tyr139Ter	coding	Pathogenic
1	100462641	G	A	G100462641A	CDC14A	NM_003672.4(CDC14A):c.608-10G>A	noncoding	Benign/Likely_benign
1	100462862	C	G	C100462862G	CDC14A	NM_003672.4(CDC14A):c.819C>G:p.Ala273=	coding	Benign/Likely_benign
1	100462865	C	T	C100462865T	CDC14A	NM_003672.4(CDC14A):c.822C>T:p.Ile274=	coding	Benign
1	100462868	C	T	C100462868T	CDC14A	NM_003672.4(CDC14A):c.825C>T:p.Ala275=	coding	Benign
1	100467953	C	G	C100467953G	CDC14A	NM_003672.4(CDC14A):c.839-3C>G	noncoding	Pathogenic
1	100468020	T	C	T100468020C	CDC14A	NM_003672.4(CDC14A):c.903T>C:p.His301=	coding	Benign
1	100468116	C	T	C100468116T	CDC14A	NM_003672.4(CDC14A):c.977+22C>T	noncoding	Benign
1	100484304	G	A	G100484304A	CDC14A	NM_003672.4(CDC14A):c.990G>A:p.Ser330=	coding	Benign
1	100484329	C	T	C100484329T	CDC14A	NM_003672.4(CDC14A):c.1015C>T:p.Arg339Ter	coding	Pathogenic
1	100484347	C	T	C100484347T	CDC14A	NM_003672.4(CDC14A):c.1033C>T:p.Arg345Ter	coding	Pathogenic
1	100484440	C	T	C100484440T	CDC14A	NM_003672.4(CDC14A):c.1126C>T:p.Arg376Ter	coding	Pathogenic
1	100499154	C	T	C100499154T	CDC14A	NM_003672.4(CDC14A):c.1647C>T:p.Ser549=	coding	Benign
1	100499218	G	A	G100499218A	CDC14A	NM_003672.4(CDC14A):c.1711G>A:p.Gly571Arg	coding	Benign/Likely_benign
1	100499270	C	T	C100499270T	CDC14A	NM_003672.4(CDC14A):c.1755+8C>T	coding	Benign/Likely_benign
1	100499372	C	G	C100499372G	CDC14A	NM_003672.4(CDC14A):c.1755+110C>G	coding	Benign
1	100539839	C	A	C100539839A	GPR88	NM_022049.3(GPR88):c.873C>A:p.Cys291Ter	coding	Pathogenic
1	100731456	A	G	A100731456G	VCAM1	NM_001078.4(VCAM1):c.1463A>G:p.His488Arg	coding	Benign
1	101239016	C	A	C101239016A	S1PR1	NM_001400.5(S1PR1):c.32C>A:p.Ala11Asp	coding	Benign
1	101239635	C	T	C101239635T	S1PR1	NM_001400.5(S1PR1):c.651C>T:p.Ile217=	coding	Benign
1	102876697	C	T	C102876697T	COL11A1	NM_001854.4(COL11A1):c.*1322G>A	noncoding	Benign/Likely_benign
1	102876836	T	C	T102876836C	COL11A1	NM_001854.4(COL11A1):c.*1183A>G	noncoding	Benign
1	102876914	G	A	G102876914A	COL11A1	NM_001854.4(COL11A1):c.*1105C>T	noncoding	Benign
1	102877387	C	T	C102877387T	COL11A1	NM_001854.4(COL11A1):c.*632G>A	noncoding	Benign/Likely_benign
1	102877718	T	C	T102877718C	COL11A1	NM_001854.4(COL11A1):c.*301A>G	noncoding	Benign
1	102877914	G	A	G102877914A	COL11A1	NM_001854.4(COL11A1):c.*105C>T	noncoding	Benign
1	102879821	G	A	G102879821A	COL11A1	NM_001854.4(COL11A1):c.5136C>T:p.Tyr1712=	coding	Benign
1	102880188	C	G	C102880188G	COL11A1	NM_001854.4(COL11A1):c.5041-272G>C	noncoding	Benign
1	102882904	A	T	A102882904T	COL11A1	NM_001854.4(COL11A1):c.4971+295T>A	noncoding	Benign
1	102883205	A	C	A102883205C	COL11A1	NM_001854.4(COL11A1):c.4965T>G:p.Ser1655=	coding	Benign
1	102886520	C	T	C102886520T	COL11A1	NM_001854.4(COL11A1):c.4858+287G>A	noncoding	Benign
1	102886895	A	G	A102886895G	COL11A1	NM_001854.4(COL11A1):c.4770T>C:p.Ile1590=	coding	Benign
1	102886964	A	G	A102886964G	COL11A1	NM_001854.4(COL11A1):c.4701T>C:p.Asp1567=	coding	Benign/Likely_benign
1	102888311	C	T	C102888311T	COL11A1	NM_001854.4(COL11A1):c.4608+266G>A	noncoding	Benign
1	102888559	T	C	T102888559C	COL11A1	NM_001854.4(COL11A1):c.4608+18A>G	noncoding	Benign
1	102888579	G	C	G102888579C	COL11A1	NM_001854.4(COL11A1):c.4606C>G:p.Pro1536Ala	coding	Benign/Likely_benign
1	102888582	A	G	A102888582G	COL11A1	NM_001854.4(COL11A1):c.4603T>C:p.Ser1535Pro	coding	Benign
1	102888722	C	G	C102888722G	COL11A1	NM_001854.4(COL11A1):c.4554+1G>C	noncoding	Pathogenic
1	102888730	C	A	C102888730A	COL11A1	NM_001854.4(COL11A1):c.4547G>T:p.Gly1516Val	coding	Pathogenic/Likely_pathogenic
1	102888872	A	G	A102888872G	COL11A1	NM_001854.4(COL11A1):c.4512T>C:p.Gly1504=	coding	Benign
1	102888916	T	C	T102888916C	COL11A1	NM_001854.4(COL11A1):c.4468A>G:p.Ile1490Val	coding	Benign/Likely_benign
1	102889523	C	A	C102889523A	COL11A1	NM_001854.4(COL11A1):c.4396G>T:p.Glu1466Ter	coding	Pathogenic
1	102889897	G	C	G102889897C	COL11A1	NM_001854.4(COL11A1):c.4357-335C>G	noncoding	Benign
1	102890551	A	G	A102890551G	COL11A1	NM_001854.4(COL11A1):c.4303-47T>C	noncoding	Benign
1	102897820	A	G	A102897820G	COL11A1	NM_001854.4(COL11A1):c.4302+305T>C	noncoding	Benign
1	102897822	G	A	G102897822A	COL11A1	NM_001854.4(COL11A1):c.4302+303C>T	noncoding	Benign
1	102898729	G	A	G102898729A	COL11A1	NM_001854.4(COL11A1):c.4185C>T:p.Val1395=	coding	Benign/Likely_benign
1	102898928	A	T	A102898928T	COL11A1	NM_001854.4(COL11A1):c.4140+13T>A	noncoding	Benign/Likely_benign
1	102898931	T	A	T102898931A	COL11A1	NM_001854.4(COL11A1):c.4140+10A>T	noncoding	Benign/Likely_benign
1	102911985	G	C	G102911985C	COL11A1	NM_001854.4(COL11A1):c.4086+174C>G	noncoding	Benign
1	102912161	G	A	G102912161A	COL11A1	NM_001854.4(COL11A1):c.4084C>T:p.Arg1362Ter	coding	Pathogenic
1	102912507	G	T	G102912507T	COL11A1	NM_001854.4(COL11A1):c.4033-295C>A	noncoding	Benign
1	102913433	A	T	A102913433T	COL11A1	NM_001854.4(COL11A1):c.4032+204T>A	noncoding	Benign
1	102913636	C	T	C102913636T	COL11A1	NM_001854.4(COL11A1):c.4032+1G>A	noncoding	Pathogenic
1	102913693	A	G	A102913693G	COL11A1	NM_001854.4(COL11A1):c.3979-3T>C	noncoding	Benign/Likely_benign
1	102913704	T	A	T102913704A	COL11A1	NM_001854.4(COL11A1):c.3979-14A>T	noncoding	Benign/Likely_benign
1	102913949	C	T	C102913949T	COL11A1	NM_001854.4(COL11A1):c.3979-259G>A	noncoding	Benign
1	102913968	T	C	T102913968C	COL11A1	NM_001854.4(COL11A1):c.3979-278A>G	noncoding	Benign
1	102913989	A	T	A102913989T	COL11A1	NM_001854.4(COL11A1):c.3979-299T>A	noncoding	Benign
1	102913992	A	G	A102913992G	COL11A1	NM_001854.4(COL11A1):c.3979-302T>C	noncoding	Benign
1	102914314	A	C	A102914314C	COL11A1	NM_001854.4(COL11A1):c.3978+38T>G	noncoding	Benign
1	102914351	C	T	C102914351T	COL11A1	NM_001854.4(COL11A1):c.3978+1G>A	noncoding	Pathogenic
1	102914362	G	A	G102914362A	COL11A1	NM_001854.4(COL11A1):c.3968C>T:p.Pro1323Leu	coding	Benign
1	102914387	C	A	C102914387A	COL11A1	NM_001854.4(COL11A1):c.3943G>T:p.Gly1315Ter	coding	Pathogenic
1	102914685	G	A	G102914685A	COL11A1	NM_001854.4(COL11A1):c.3924+19C>T	noncoding	Benign
1	102914755	T	G	T102914755G	COL11A1	NM_001854.4(COL11A1):c.3873A>C:p.Gly1291=	coding	Benign/Likely_benign
1	102914816	A	G	A102914816G	COL11A1	NM_001854.4(COL11A1):c.3817-5T>C	noncoding	Benign
1	102915626	C	T	C102915626T	COL11A1	NM_001854.4(COL11A1):c.3816+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	102915630	C	G	C102915630G	COL11A1	NM_001854.4(COL11A1):c.3816+1G>C	noncoding	Pathogenic
1	102915630	C	T	C102915630T	COL11A1	NM_001854.4(COL11A1):c.3816+1G>A	noncoding	Pathogenic
1	102915658	T	C	T102915658C	COL11A1	NM_001854.4(COL11A1):c.3789A>G:p.Pro1263=	coding	Benign/Likely_benign
1	102920344	C	T	C102920344T	COL11A1	NM_001854.4(COL11A1):c.3729G>A:p.Gly1243=	coding	Benign/Likely_benign
1	102920365	C	T	C102920365T	COL11A1	NM_001854.4(COL11A1):c.3709-1G>A	coding	Pathogenic
1	102920544	C	G	C102920544G	COL11A1	NM_001854.4(COL11A1):c.3709-180G>C	noncoding	Benign
1	102920929	T	C	T102920929C	COL11A1	NM_001854.4(COL11A1):c.3709-565A>G	noncoding	Benign
1	102921104	G	A	G102921104A	COL11A1	NM_001854.4(COL11A1):c.3708+414C>T	noncoding	Benign
1	102921251	C	T	C102921251T	COL11A1	NM_001854.4(COL11A1):c.3708+267G>A	noncoding	Benign
1	102938767	A	G	A102938767G	COL11A1	NM_001854.4(COL11A1):c.3438+268T>C	noncoding	Benign
1	102939380	A	T	A102939380T	COL11A1	NM_001854.4(COL11A1):c.3385-292T>A	noncoding	Benign
1	102940336	G	A	G102940336A	COL11A1	NM_001854.4(COL11A1):c.3375C>T:p.Asp1125=	coding	Benign
1	102946515	G	T	G102946515T	COL11A1	NM_001854.4(COL11A1):c.3276+334C>A	noncoding	Benign
1	102946884	C	G	C102946884G	COL11A1	NM_001854.4(COL11A1):c.3241G>C:p.Gly1081Arg	coding	Pathogenic
1	102946936	C	T	C102946936T	COL11A1	NM_001854.4(COL11A1):c.3189G>A:p.Gly1063=	coding	Benign/Likely_benign
1	102946972	A	G	A102946972G	COL11A1	NM_001854.4(COL11A1):c.3169-16T>C	noncoding	Benign
1	102961589	C	T	C102961589T	COL11A1	NM_001854.4(COL11A1):c.3168+277G>A	noncoding	Benign
1	102961825	A	G	A102961825G	COL11A1	NM_001854.4(COL11A1):c.3168+41T>C	noncoding	Benign
1	102961851	T	C	T102961851C	COL11A1	NM_001854.4(COL11A1):c.3168+15A>G	noncoding	Benign
1	102961865	C	A	C102961865A	COL11A1	NM_001854.4(COL11A1):c.3168+1G>T	noncoding	Pathogenic
1	102961887	G	C	G102961887C	COL11A1	NM_001854.4(COL11A1):c.3147C>G:p.Pro1049=	coding	Benign
1	102962257	T	G	T102962257G	COL11A1	NM_001854.4(COL11A1):c.3033A>C:p.Pro1011=	coding	Benign/Likely_benign
1	102962288	T	A	T102962288A	COL11A1	NM_001854.4(COL11A1):c.3025-23A>T	noncoding	Benign
1	102962750	C	A	C102962750A	COL11A1	NM_001854.4(COL11A1):c.2927G>T:p.Gly976Val	coding	Pathogenic
1	102962833	G	A	G102962833A	COL11A1	NM_001854.4(COL11A1):c.2917-73C>T	noncoding	Benign
1	102965502	T	G	T102965502G	COL11A1	NM_001854.4(COL11A1):c.2901A>C:p.Gly967=	coding	Benign/Likely_benign
1	102970379	T	C	T102970379C	COL11A1	NM_001854.4(COL11A1):c.2809-107A>G	noncoding	Benign
1	102970585	A	G	A102970585G	COL11A1	NM_001854.4(COL11A1):c.2809-313T>C	noncoding	Benign
1	102974872	T	C	T102974872C	COL11A1	NM_001854.4(COL11A1):c.2766A>G:p.Gly922=	coding	Benign/Likely_benign
1	102978703	C	T	C102978703T	COL11A1	NM_001854.4(COL11A1):c.2754+5G>A	noncoding	Pathogenic
1	102978941	A	G	A102978941G	COL11A1	NM_001854.4(COL11A1):c.2656-28T>C	noncoding	Benign
1	102979108	G	A	G102979108A	COL11A1	NM_001854.4(COL11A1):c.2611-4C>T	noncoding	Benign
1	102979123	T	G	T102979123G	COL11A1	NM_001854.4(COL11A1):c.2611-19A>C	noncoding	Benign
1	102979414	A	T	A102979414T	COL11A1	NM_001854.4(COL11A1):c.2578T>A:p.Phe860Ile	coding	Benign
1	102984042	G	C	G102984042C	COL11A1	NM_001854.4(COL11A1):c.2556+96C>G	noncoding	Benign
1	102989562	C	G	C102989562G	COL11A1	NM_001854.4(COL11A1):c.2350G>C:p.Gly784Arg	coding	Pathogenic
1	102989661	C	T	C102989661T	COL11A1	NM_001854.4(COL11A1):c.2341-90G>A	noncoding	Benign
1	102995952	T	A	T102995952A	COL11A1	NM_001854.4(COL11A1):c.2295+37A>T	noncoding	Benign
1	102996991	G	A	G102996991A	COL11A1	NM_001854.4(COL11A1):c.2241+89C>T	noncoding	Benign
1	102998007	T	A	T102998007A	COL11A1	NM_001854.4(COL11A1):c.2196+303A>T	noncoding	Benign
1	102998127	C	T	C102998127T	COL11A1	NM_001854.4(COL11A1):c.2196+183G>A	noncoding	Benign
1	102998420	G	T	G102998420T	COL11A1	NM_001854.4(COL11A1):c.2143-57C>A	noncoding	Benign
1	102998654	T	C	T102998654C	COL11A1	NM_001854.4(COL11A1):c.2143-291A>G	noncoding	Benign
1	102998678	T	C	T102998678C	COL11A1	NM_001854.4(COL11A1):c.2143-315A>G	noncoding	Benign
1	103001662	C	T	C103001662T	COL11A1	NM_001854.4(COL11A1):c.2142+263G>A	noncoding	Benign
1	103001667	T	C	T103001667C	COL11A1	NM_001854.4(COL11A1):c.2142+258A>G	noncoding	Benign
1	103002059	C	T	C103002059T	COL11A1	NM_001854.4(COL11A1):c.2098-90G>A	noncoding	Benign
1	103002410	G	T	G103002410T	COL11A1	NM_001854.4(COL11A1):c.2097+18C>A	noncoding	Benign
1	103002739	C	T	C103002739T	COL11A1	NM_001854.4(COL11A1):c.2043+8G>A	noncoding	Benign
1	103003211	A	T	A103003211T	COL11A1	NM_001854.4(COL11A1):c.1998+4T>A	noncoding	Benign
1	103003275	G	T	G103003275T	COL11A1	NM_001854.4(COL11A1):c.1945-7C>A	noncoding	Benign/Likely_benign
1	103004433	A	G	A103004433G	COL11A1	NM_001854.4(COL11A1):c.1944+11T>C	noncoding	Benign
1	103004633	C	A	C103004633A	COL11A1	NM_001854.4(COL11A1):c.1874G>T:p.Gly625Val	coding	Pathogenic
1	103004635	T	C	T103004635C	COL11A1	NM_001854.4(COL11A1):c.1872A>G:p.Pro624=	coding	Benign
1	103006314	C	T	C103006314T	COL11A1	NM_001854.4(COL11A1):c.1685G>A:p.Gly562Asp	coding	Pathogenic
1	103012263	A	G	A103012263G	COL11A1	NM_001854.4(COL11A1):c.1629+150T>C	noncoding	Benign
1	103015968	T	C	T103015968C	COL11A1	NM_001854.4(COL11A1):c.1414-226A>G	noncoding	Benign
1	103017773	T	C	T103017773C	COL11A1	NM_001854.4(COL11A1):c.1413+47A>G	noncoding	Benign
1	103017802	T	A	T103017802A	COL11A1	NM_001854.4(COL11A1):c.1413+18A>T	noncoding	Benign
1	103017958	C	T	C103017958T	COL11A1	NM_001854.4(COL11A1):c.1351-76G>A	noncoding	Benign
1	103021688	T	C	T103021688C	COL11A1	NM_001854.4(COL11A1):c.1308+19A>G	noncoding	Benign
1	103025514	G	A	G103025514A	COL11A1	NM_001854.4(COL11A1):c.990+7C>T	noncoding	Benign/Likely_benign
1	103025607	T	C	T103025607C	COL11A1	NM_001854.4(COL11A1):c.904A>G:p.Ile302Val	coding	Benign
1	103025905	T	G	T103025905G	COL11A1	NM_001854.4(COL11A1):c.898-292A>C	coding	Benign
1	103026402	A	C	A103026402C	COL11A1	NM_001854.4(COL11A1):c.781-70T>G	noncoding	Pathogenic
1	103026712	G	T	G103026712T	COL11A1	NM_001854.4(COL11A1):c.781-380C>A	noncoding	Benign
1	103031064	G	T	G103031064T	COL11A1	NM_001854.4(COL11A1):c.780+52C>A	noncoding	Benign
1	103031236	A	G	A103031236G	COL11A1	NM_001854.4(COL11A1):c.660T>C:p.Ile220=	coding	Benign
1	103031246	T	G	T103031246G	COL11A1	NM_001854.4(COL11A1):c.652-2A>C	noncoding	Pathogenic
1	103074602	T	C	T103074602C	COL11A1	NM_001854.4(COL11A1):c.651+16A>G	noncoding	Benign
1	103074872	T	C	T103074872C	COL11A1	NM_001854.4(COL11A1):c.489-92A>G	noncoding	Benign
1	103075082	T	C	T103075082C	COL11A1	NM_001854.4(COL11A1):c.489-302A>G	noncoding	Benign
1	103078377	A	T	A103078377T	COL11A1	NM_001854.4(COL11A1):c.488+281T>A	noncoding	Benign
1	103078635	C	T	C103078635T	COL11A1	NM_001854.4(COL11A1):c.488+23G>A	noncoding	Benign
1	103078878	A	G	A103078878G	COL11A1	NM_001854.4(COL11A1):c.275-7T>C	noncoding	Benign
1	103082763	C	G	C103082763G	COL11A1	NM_001854.4(COL11A1):c.274+42G>C	noncoding	Benign
1	103082941	A	C	A103082941C	COL11A1	NM_001854.4(COL11A1):c.138T>G:p.Asp46Glu	coding	Benign
1	103082949	C	T	C103082949T	COL11A1	NM_001854.4(COL11A1):c.130G>A:p.Ala44Thr	coding	Benign/Likely_benign
1	103107935	A	G	A103107935G	COL11A1	NM_001854.4(COL11A1):c.106+138T>C	noncoding	Benign
1	103107991	G	A	G103107991A	COL11A1	NM_001854.4(COL11A1):c.106+82C>T	noncoding	Benign
1	103108127	T	A	T103108127A	COL11A1	NM_001854.4(COL11A1):c.52A>T:p.Thr18Ser	coding	Benign/Likely_benign
1	103108256	A	T	A103108256T	COL11A1	NM_001854.4(COL11A1):c.-78T>A	noncoding	Benign/Likely_benign
1	103544934	C	G	C103544934G	RNPC3	NM_017619.4(RNPC3):c.1046-7C>G	noncoding	Benign
1	103550999	C	A	C103550999A	RNPC3	NM_017619.4(RNPC3):c.1420C>A:p.Pro474Thr	coding	Pathogenic
1	103551730	C	T	C103551730T	RNPC3	NM_017619.4(RNPC3):c.1504C>T:p.Arg502Ter	coding	Pathogenic
1	103571693	C	T	C103571693T	AMY2B	NM_020978.4(AMY2B):c.91C>T:p.Leu31=	coding	Benign
1	103618081	C	A	C103618081A	AMY2A	NM_000699.3(AMY2A):c.296C>A:p.Thr99Asn	coding	Benign
1	103660444	C	T	C103660444T	AMY1A	NM_004038.3(AMY1A):c.963C>T:p.Gly321=	coding	Benign
1	107148668	G	A	G107148668A	NTNG1	NM_014917.4(NTNG1):c.75G>A:p.Leu25=	coding	Benign
1	107324416	C	G	C107324416G	NTNG1	NM_014917.4(NTNG1):c.381C>G:p.Pro127=	coding	Benign
1	107324443	G	A	G107324443A	NTNG1	NM_014917.4(NTNG1):c.408G>A:p.Leu136=	coding	Benign
1	107324465	C	T	C107324465T	NTNG1	NM_014917.4(NTNG1):c.430C>T:p.Leu144=	coding	Benign
1	107324881	A	G	A107324881G	NTNG1	NM_014917.4(NTNG1):c.846A>G:p.Ala282=	coding	Benign
1	107574039	C	T	C107574039T	VAV3	NM_006113.5(VAV3):c.2502+8G>A	noncoding	Benign
1	107603039	C	A	C107603039A	VAV3	NM_006113.5(VAV3):c.2132+8G>T	noncoding	Benign
1	107705049	T	C	T107705049C	VAV3	NM_006113.5(VAV3):c.1515A>G:p.Arg505=	coding	Benign
1	107757303	C	T	C107757303T	VAV3	NM_006113.5(VAV3):c.1044G>A:p.Pro348=	coding	Benign
1	107765163	G	A	G107765163A	VAV3	NM_006113.5(VAV3):c.834C>T:p.Tyr278=	coding	Benign
1	107766560	G	A	G107766560A	VAV3	NM_006113.5(VAV3):c.718-10C>T	noncoding	Benign
1	107777262	C	T	C107777262T	VAV3	NM_006113.5(VAV3):c.415G>A:p.Asp139Asn	coding	Benign
1	107777269	A	G	A107777269G	VAV3	NM_006113.5(VAV3):c.408T>C:p.Asn136=	coding	Benign
1	107874927	A	G	A107874927G	VAV3	NM_006113.5(VAV3):c.295T>C:p.Leu99=	coding	Benign
1	107964861	C	T	C107964861T	VAV3	NM_006113.5(VAV3):c.9G>A:p.Pro3=	coding	Benign
1	108157481	C	T	C108157481T	SLC25A24	NM_013386.5(SLC25A24):c.650G>A:p.Arg217His	coding	Pathogenic
1	108157482	G	A	G108157482A	SLC25A24	NM_013386.5(SLC25A24):c.649C>T:p.Arg217Cys	coding	Pathogenic
1	108185940	A	T	A108185940T	SLC25A24	NM_013386.5(SLC25A24):c.198T>A:p.Thr66=	coding	Benign
1	108648676	T	C	T108648676C	HENMT1	NM_001102592.2(HENMT1):c.1072A>G:p.Asn358Asp	coding	Benign
1	108650278	C	T	C108650278T	HENMT1	NM_001102592.2(HENMT1):c.689G>A:p.Arg230Gln	coding	Benign
1	108657487	G	A	G108657487A	HENMT1	NM_001102592.2(HENMT1):c.114C>T:p.Phe38=	coding	Benign
1	108699434	G	A	G108699434A	PRPF38B	NM_018061.4(PRPF38B):c.1055G>A:p.Arg352Lys	coding	Benign
1	108877219	C	T	C108877219T	GPSM2	NM_013296.5(GPSM2):c.-258C>T	noncoding	Benign/Likely_benign
1	108896894	G	A	G108896894A	GPSM2	NM_013296.5(GPSM2):c.87G>A:p.Leu29=	coding	Benign/Likely_benign
1	108896945	C	A	C108896945A	GPSM2	NM_013296.5(GPSM2):c.138C>A:p.Phe46Leu	coding	Pathogenic
1	108897090	T	C	T108897090C	GPSM2	NM_013296.5(GPSM2):c.278+5T>C	noncoding	Benign/Likely_benign
1	108897592	C	T	C108897592T	GPSM2	NM_013296.5(GPSM2):c.379C>T:p.Arg127Ter	coding	Pathogenic
1	108897593	G	A	G108897593A	GPSM2	NM_013296.5(GPSM2):c.380G>A:p.Arg127Gln	coding	Benign/Likely_benign
1	108898118	A	G	A108898118G	GPSM2	NM_013296.5(GPSM2):c.557+17A>G	noncoding	Benign
1	108898950	A	G	A108898950G	GPSM2	NM_013296.5(GPSM2):c.753A>G:p.Ala251=	coding	Benign/Likely_benign
1	108901820	A	G	A108901820G	GPSM2	NM_013296.5(GPSM2):c.828A>G:p.Lys276=	coding	Benign/Likely_benign
1	108903149	G	A	G108903149A	GPSM2	NM_013296.5(GPSM2):c.977G>A:p.Trp326Ter	coding	Pathogenic
1	108903235	G	T	G108903235T	GPSM2	NM_013296.5(GPSM2):c.1062+1G>T	coding	Pathogenic
1	108903331	A	G	A108903331G	GPSM2	NM_013296.5(GPSM2):c.1062+97A>G	noncoding	Benign
1	108903423	C	G	C108903423G	GPSM2	NM_013296.5(GPSM2):c.1062+189C>G	noncoding	Benign
1	108904124	G	T	G108904124T	GPSM2	NM_013296.5(GPSM2):c.1063-1G>T	noncoding	Pathogenic
1	108904155	C	T	C108904155T	GPSM2	NM_013296.5(GPSM2):c.1093C>T:p.Arg365Ter	coding	Pathogenic
1	108904502	C	G	C108904502G	GPSM2	NM_013296.5(GPSM2):c.1192+248C>G	noncoding	Benign
1	108914228	G	A	G108914228A	GPSM2	NM_013296.5(GPSM2):c.1193-110G>A	noncoding	Benign
1	108918341	C	T	C108918341T	GPSM2	NM_013296.5(GPSM2):c.1264-272C>T	noncoding	Benign
1	108918719	C	T	C108918719T	GPSM2	NM_013296.5(GPSM2):c.1370C>T:p.Thr457Met	coding	Benign/Likely_benign
1	108922468	C	T	C108922468T	GPSM2	NM_013296.5(GPSM2):c.1492C>T:p.Arg498Ter	coding	Pathogenic/Likely_pathogenic
1	108923975	T	C	T108923975C	GPSM2	NM_013296.5(GPSM2):c.1601-25T>C	noncoding	Benign
1	108924060	C	A	C108924060A	GPSM2	NM_013296.5(GPSM2):c.1661C>A:p.Ser554Ter	coding	Pathogenic
1	108924083	C	T	C108924083T	GPSM2	NM_013296.5(GPSM2):c.1684C>T:p.Gln562Ter	coding	Pathogenic
1	108924236	G	A	G108924236A	GPSM2	NM_013296.5(GPSM2):c.1815+22G>A	noncoding	Benign
1	108924458	G	T	G108924458T	GPSM2	NM_013296.5(GPSM2):c.1815+244G>T	noncoding	Benign
1	108929693	A	G	A108929693G	GPSM2	NM_013296.5(GPSM2):c.1816-8A>G	coding	Benign/Likely_benign
1	108929705	C	T	C108929705T	GPSM2	NM_013296.5(GPSM2):c.1820C>T:p.Ser607Phe	coding	Benign/Likely_benign
1	108930151	G	A	G108930151A	GPSM2	NM_013296.5(GPSM2):c.*211G>A	noncoding	Benign
1	108930191	T	C	T108930191C	GPSM2	NM_013296.5(GPSM2):c.*251T>C	noncoding	Benign
1	108930395	C	T	C108930395T	GPSM2	NM_013296.5(GPSM2):c.*455C>T	noncoding	Benign
1	108950363	G	T	G108950363T	CLCC1	NM_001377458.1(CLCC1):c.75C>A:p.Asp25Glu	coding	Pathogenic
1	109066220	A	T	A109066220T	TAF13	NM_005645.4(TAF13):c.119T>A:p.Met40Lys	coding	Pathogenic
1	109075001	A	T	A109075001T	TAF13	NM_005645.4(TAF13):c.92T>A:p.Leu31His	coding	Pathogenic
1	109192859	G	A	G109192859A	ELAPOR1	NM_020775.5(ELAPOR1):c.1932G>A:p.Gly644=	coding	Benign
1	109197506	C	G	C109197506G	ELAPOR1	NM_020775.5(ELAPOR1):c.2154C>G:p.Val718=	coding	Benign
1	109229572	G	A	G109229572A	SARS1	NM_006513.4(SARS1):c.447G>A:p.Glu149=	coding	Benign
1	109230944	G	A	G109230944A	SARS1	NM_006513.4(SARS1):c.514G>A:p.Asp172Asn	coding	Pathogenic
1	109235978	T	C	T109235978C	SARS1	NM_006513.4(SARS1):c.971T>C:p.Ile324Thr	coding	Pathogenic
1	109236451	G	A	G109236451A	SARS1	NM_006513.4(SARS1):c.1160G>A:p.Gly387Glu	coding	Benign
1	109236555	G	A	G109236555A	SARS1	NM_006513.4(SARS1):c.1257+7G>A	noncoding	Benign
1	109237312	G	A	G109237312A	SARS1	NM_006513.4(SARS1):c.1326G>A:p.Glu442=	coding	Benign
1	109237381	T	C	T109237381C	SARS1	NM_006513.4(SARS1):c.1387+8T>C	noncoding	Benign
1	109250351	G	A	G109250351A	CELSR2	NM_001408.3(CELSR2):c.272G>A:p.Arg91Lys	coding	Benign
1	109250412	C	T	C109250412T	CELSR2	NM_001408.3(CELSR2):c.333C>T:p.Pro111=	coding	Benign
1	109250506	C	T	C109250506T	CELSR2	NM_001408.3(CELSR2):c.427C>T:p.Leu143Phe	coding	Benign
1	109250560	A	C	A109250560C	CELSR2	NM_001408.3(CELSR2):c.481A>C:p.Arg161=	coding	Benign
1	109250697	C	T	C109250697T	CELSR2	NM_001408.3(CELSR2):c.618C>T:p.Ile206=	coding	Benign
1	109250811	C	T	C109250811T	CELSR2	NM_001408.3(CELSR2):c.732C>T:p.Ala244=	coding	Benign
1	109250982	C	T	C109250982T	CELSR2	NM_001408.3(CELSR2):c.903C>T:p.Asn301=	coding	Benign
1	109251229	G	T	G109251229T	CELSR2	NM_001408.3(CELSR2):c.1150G>T:p.Ala384Ser	coding	Benign
1	109251833	A	G	A109251833G	CELSR2	NM_001408.3(CELSR2):c.1754A>G:p.His585Arg	coding	Benign
1	109252458	C	T	C109252458T	CELSR2	NM_001408.3(CELSR2):c.2379C>T:p.Pro793=	coding	Benign
1	109252611	T	C	T109252611C	CELSR2	NM_001408.3(CELSR2):c.2532T>C:p.Ser844=	coding	Benign
1	109253276	G	A	G109253276A	CELSR2	NM_001408.3(CELSR2):c.3197G>A:p.Arg1066Gln	coding	Benign
1	109253352	C	T	C109253352T	CELSR2	NM_001408.3(CELSR2):c.3273C>T:p.Asn1091=	coding	Benign
1	109258484	C	T	C109258484T	CELSR2	NM_001408.3(CELSR2):c.3363C>T:p.Thr1121=	coding	Benign
1	109258921	A	G	A109258921G	CELSR2	NM_001408.3(CELSR2):c.3800A>G:p.His1267Arg	coding	Benign
1	109261579	T	C	T109261579C	CELSR2	NM_001408.3(CELSR2):c.4248T>C:p.Phe1416=	coding	Benign
1	109264311	C	T	C109264311T	CELSR2	NM_001408.3(CELSR2):c.5235C>T:p.Gly1745=	coding	Benign
1	109264564	C	T	C109264564T	CELSR2	NM_001408.3(CELSR2):c.5400C>T:p.Asn1800=	coding	Benign
1	109268900	G	A	G109268900A	CELSR2	NM_001408.3(CELSR2):c.6523G>A:p.Asp2175Asn	coding	Benign
1	109269141	C	T	C109269141T	CELSR2	NM_001408.3(CELSR2):c.6663C>T:p.Pro2221=	coding	Benign
1	109269514	C	T	C109269514T	CELSR2	NM_001408.3(CELSR2):c.6903C>T:p.Pro2301=	coding	Benign
1	109269984	A	G	A109269984G	CELSR2	NM_001408.3(CELSR2):c.7159A>G:p.Thr2387Ala	coding	Benign
1	109272414	C	T	C109272414T	CELSR2	NM_001408.3(CELSR2):c.8054+9C>T	noncoding	Benign
1	109272843	G	A	G109272843A	CELSR2	NM_001408.3(CELSR2):c.8154G>A:p.Thr2718=	coding	Benign
1	109273240	G	A	G109273240A	CELSR2	NM_001408.3(CELSR2):c.8413G>A:p.Gly2805Arg	coding	Benign
1	109273305	C	T	C109273305T	CELSR2	NM_001408.3(CELSR2):c.8478C>T:p.Pro2826=	coding	Benign
1	109316863	C	T	C109316863T	SORT1	NM_002959.7(SORT1):c.2237G>A:p.Ser746Asn	coding	Benign
1	109342050	C	A	C109342050A	SORT1	NM_002959.7(SORT1):c.1072G>T:p.Asp358Tyr	coding	Benign
1	109355359	A	T	A109355359T	SORT1	NM_002959.7(SORT1):c.543+8T>A	noncoding	Benign
1	109508840	C	T	C109508840T	AMIGO1	NM_020703.4(AMIGO1):c.73G>A:p.Ala25Thr	coding	Benign
1	109548838	G	C	G109548838C	GNAI3	NM_006496.4(GNAI3):c.118G>C:p.Gly40Arg	coding	Pathogenic
1	109573759	C	A	C109573759A	GNAI3	NM_006496.4(GNAI3):c.141C>A:p.Ser47Arg	coding	Pathogenic
1	109592155	G	A	G109592155A	GNAI3	NM_006496.4(GNAI3):c.987G>A:p.Thr329=	coding	Benign
1	109603533	A	G	A109603533G	GNAT2	NM_005272.4(GNAT2):c.886T>C:p.Tyr296His	coding	Pathogenic
1	109606070	T	A	T109606070A	GNAT2	NM_005272.4(GNAT2):c.620A>T:p.Glu207Val	coding	Pathogenic
1	109606085	C	T	C109606085T	GNAT2	NM_005272.5(GNAT2):c.605G>A:p.Gly202Glu	coding	Pathogenic
1	109606101	T	G	T109606101G	GNAT2	NM_005272.4(GNAT2):c.591-2A>C	noncoding	Pathogenic
1	109606352	C	T	C109606352T	GNAT2	NM_005272.4(GNAT2):c.546G>A:p.Thr182=	coding	Benign
1	109606417	G	A	G109606417A	GNAT2	NM_005272.4(GNAT2):c.481C>T:p.Arg161Ter	coding	Pathogenic
1	109608773	G	T	G109608773T	GNAT2	NM_005272.4(GNAT2):c.319C>A:p.Leu107Ile	coding	Benign
1	109608779	G	A	G109608779A	GNAT2	NM_005272.4(GNAT2):c.313C>T:p.Arg105Ter	coding	Pathogenic
1	109610108	G	A	G109610108A	GNAT2	NM_005272.4(GNAT2):c.235C>T:p.Gln79Ter	coding	Pathogenic
1	109610479	G	A	G109610479A	GNAT2	NM_005272.4(GNAT2):c.147C>T:p.Ile49=	coding	Benign/Likely_benign
1	109612902	T	C	T109612902C	GNAT2	NM_005272.4(GNAT2):c.-32A>G	noncoding	Benign
1	109621124	C	G	C109621124G	AMPD2	NM_001368809.2(AMPD2):c.-52C>G	coding	Benign
1	109625658	C	T	C109625658T	AMPD2	NM_001368809.2(AMPD2):c.223-4C>T	coding	Benign/Likely_benign
1	109626429	T	G	T109626429G	AMPD2	NM_001368809.2(AMPD2):c.531+2T>G	noncoding	Pathogenic
1	109626902	T	G	T109626902G	AMPD2	NM_001368809.2(AMPD2):c.708T>G:p.Pro236=	coding	Benign
1	109627453	C	A	C109627453A	AMPD2	NM_001368809.2(AMPD2):c.885C>A:p.Tyr295Ter	coding	Pathogenic
1	109627912	T	C	T109627912C	AMPD2	NM_001368809.2(AMPD2):c.1080+9T>C	noncoding	Benign
1	109628106	G	A	G109628106A	AMPD2	NM_001368809.2(AMPD2):c.1104G>A:p.Ser368=	coding	Benign
1	109628200	C	T	C109628200T	AMPD2	NM_001368809.2(AMPD2):c.1198C>T:p.Gln400Ter	coding	Pathogenic
1	109629124	C	A	C109629124A	AMPD2	NM_001368809.2(AMPD2):c.1587C>A:p.Thr529=	coding	Benign
1	109629344	C	T	C109629344T	AMPD2	NM_001368809.2(AMPD2):c.1716C>T:p.Ser572=	coding	Benign
1	109629487	G	A	G109629487A	AMPD2	NM_001368809.2(AMPD2):c.1859G>A:p.Arg620His	coding	Pathogenic
1	109630331	G	A	G109630331A	AMPD2	NM_001368809.2(AMPD2):c.2082G>A:p.Pro694=	coding	Benign
1	109630343	C	G	C109630343G	AMPD2	NM_001368809.2(AMPD2):c.2094C>G:p.Tyr698Ter	coding	Pathogenic
1	109630674	C	A	C109630674A	AMPD2	NM_001368809.2(AMPD2):c.2158-9C>A	noncoding	Benign
1	109630690	T	G	T109630690G	AMPD2	NM_001368809.2(AMPD2):c.2165T>G:p.Leu722Arg	coding	Pathogenic
1	109630697	G	C	G109630697C	AMPD2	NM_001368809.2(AMPD2):c.2172G>C:p.Glu724Asp	coding	Pathogenic
1	109630740	G	T	G109630740T	AMPD2	NM_001368809.2(AMPD2):c.2215G>T:p.Asp739Tyr	coding	Pathogenic
1	109669346	G	C	G109669346C	GSTM2	NM_000848.4(GSTM2):c.234G>C:p.Arg78=	coding	Benign
1	109669374	G	A	G109669374A	GSTM2	NM_000848.4(GSTM2):c.259+3G>A	noncoding	Benign
1	109689252	G	T	G109689252T	GSTM1	NM_000561.4(GSTM1):c.287G>T:p.Arg96Leu	coding	Benign
1	109689279	T	C	T109689279C	GSTM1	NM_000561.4(GSTM1):c.314T>C:p.Met105Thr	coding	Benign
1	109713540	C	G	C109713540G	GSTM5	NM_000851.4(GSTM5):c.234C>G:p.Arg78=	coding	Benign
1	109715019	C	T	C109715019T	GSTM5	NM_000851.4(GSTM5):c.433C>T:p.Arg145Trp	coding	Benign
1	109715192	G	C	G109715192C	GSTM5	NM_000851.4(GSTM5):c.519G>C:p.Lys173Asn	coding	Benign
1	109717418	A	G	A109717418G	GSTM5	NM_000851.4(GSTM5):c.649A>G:p.Ser217Gly	coding	Benign
1	109751774	G	A	G109751774A	EPS8L3	NM_133181.4(EPS8L3):c.1443C>T:p.Asp481=	coding	Benign
1	109923497	G	A	G109923497A	CSF1	NM_000757.6(CSF1):c.876G>A:p.Glu292=	coding	Benign
1	109923833	G	A	G109923833A	CSF1	NM_000757.6(CSF1):c.1212G>A:p.Arg404=	coding	Benign
1	109924154	C	T	C109924154T	CSF1	NM_000757.6(CSF1):c.1533C>T:p.Ala511=	coding	Benign
1	110038699	G	A	G110038699A	STRIP1	NM_033088.4(STRIP1):c.267G>A:p.Thr89=	coding	Benign
1	110043255	C	A	C110043255A	STRIP1	NM_033088.4(STRIP1):c.1053C>A:p.Gly351=	coding	Benign
1	110060850	G	A	G110060850A	ALX3	NM_006492.3(ALX3):c.915C>T:p.Pro305=	coding	Benign
1	110061017	G	C	G110061017C	ALX3	NM_006492.3(ALX3):c.748C>G:p.Pro250Ala	coding	Benign/Likely_benign
1	110061531	C	T	C110061531T	ALX3	NM_006492.3(ALX3):c.627G>A:p.Arg209=	coding	Benign/Likely_benign
1	110061550	T	C	T110061550C	ALX3	NM_006492.3(ALX3):c.608A>G:p.Asn203Ser	coding	Pathogenic
1	110061565	T	A	T110061565A	ALX3	NM_006492.3(ALX3):c.595-2A>T	noncoding	Pathogenic
1	110064595	G	A	G110064595A	ALX3	NM_006492.3(ALX3):c.586C>T:p.Arg196Trp	coding	Pathogenic
1	110064634	G	A	G110064634A	ALX3	NM_006492.3(ALX3):c.547C>T:p.Arg183Trp	coding	Pathogenic
1	110064638	A	T	A110064638T	ALX3	NM_006492.3(ALX3):c.543T>A:p.Tyr181Ter	coding	Pathogenic
1	110064679	G	C	G110064679C	ALX3	NM_006492.3(ALX3):c.502C>G:p.Leu168Val	coding	Pathogenic
1	110064909	A	G	A110064909G	ALX3	NM_006492.3(ALX3):c.278-6T>C	noncoding	Benign
1	110070409	G	A	G110070409A	ALX3	NM_006492.3(ALX3):c.204C>T:p.Pro68=	coding	Benign
1	110167010	C	G	C110167010G	SLC6A17	NM_001010898.4(SLC6A17):c.81C>G:p.Leu27=	coding	Benign
1	110167225	A	G	A110167225G	SLC6A17	NM_001010898.4(SLC6A17):c.286+10A>G	noncoding	Benign
1	110174012	G	A	G110174012A	SLC6A17	NM_001010898.4(SLC6A17):c.484G>A:p.Gly162Arg	coding	Pathogenic
1	110174053	G	A	G110174053A	SLC6A17	NM_001010898.4(SLC6A17):c.525G>A:p.Pro175=	coding	Benign/Likely_benign
1	110174904	G	A	G110174904A	SLC6A17	NM_001010898.4(SLC6A17):c.697G>A:p.Val233Met	coding	Benign
1	110198158	C	G	C110198158G	SLC6A17	NM_001010898.4(SLC6A17):c.1898C>G:p.Pro633Arg	coding	Pathogenic
1	110198296	A	G	A110198296G	SLC6A17	NM_001010898.4(SLC6A17):c.2036A>G:p.Lys679Arg	coding	Benign/Likely_benign
1	110198414	G	C	G110198414C	SLC6A17	NM_001010898.4(SLC6A17):c.2154G>C:p.Leu718=	coding	Benign
1	110339891	C	T	C110339891T	RBM15	NM_022768.4(RBM15):c.486C>T:p.Gly162=	coding	Benign
1	110341022	G	A	G110341022A	RBM15	NM_022768.4(RBM15):c.1617G>A:p.Gln539=	coding	Benign
1	110341871	T	C	T110341871C	RBM15	NM_022768.4(RBM15):c.2466T>C:p.Thr822=	coding	Benign
1	110379330	C	T	C110379330T	SLC16A4	NM_004696.3(SLC16A4):c.553G>A:p.Ala185Thr	coding	Benign
1	110454050	G	T	G110454050T	PROK1	NM_032414.3(PROK1):c.162G>T:p.Gly54=	coding	Benign
1	110517670	C	T	C110517670T	KCNA10	NM_005549.2(KCNA10):c.1118G>A:p.Arg373Gln	coding	Benign
1	110517699	G	T	G110517699T	KCNA10	NM_005549.2(KCNA10):c.1089C>A:p.Ile363=	coding	Benign
1	110518027	T	C	T110518027C	KCNA10	NM_005549.2(KCNA10):c.761A>G:p.Asn254Ser	coding	Benign
1	110518122	C	T	C110518122T	KCNA10	NM_005549.2(KCNA10):c.666G>A:p.Ser222=	coding	Benign
1	110602079	G	A	G110602079A	KCNA2	NM_004974.4(KCNA2):c.*1204C>T	coding	Benign
1	110603391	A	C	A110603391C	KCNA2	NM_004974.4(KCNA2):c.1392T>G:p.Gly464=	coding	Benign
1	110603484	T	A	T110603484A	KCNA2	NM_004974.4(KCNA2):c.1299A>T:p.Thr433=	coding	Benign/Likely_benign
1	110603560	A	G	A110603560G	KCNA2	NM_004974.4(KCNA2):c.1223T>C:p.Val408Ala	coding	Pathogenic
1	110603569	G	A	G110603569A	KCNA2	NM_004974.4(KCNA2):c.1214C>T:p.Pro405Leu	coding	Pathogenic
1	110603598	C	G	C110603598G	KCNA2	NM_004974.4(KCNA2):c.1185G>C:p.Ala395=	coding	Benign
1	110603598	C	T	C110603598T	KCNA2	NM_004974.4(KCNA2):c.1185G>A:p.Ala395=	coding	Benign
1	110603663	T	C	T110603663C	KCNA2	NM_004974.4(KCNA2):c.1120A>G:p.Thr374Ala	coding	Pathogenic
1	110603811	G	A	G110603811A	KCNA2	NM_004974.4(KCNA2):c.972C>T:p.Ser324=	coding	Benign
1	110603889	C	A	C110603889A	KCNA2	NM_004974.4(KCNA2):c.894G>T:p.Leu298Phe	coding	Pathogenic
1	110603892	C	A	C110603892A	KCNA2	NM_004974.4(KCNA2):c.891G>T:p.Arg297=	coding	Benign
1	110603893	C	T	C110603893T	KCNA2	NM_004974.4(KCNA2):c.890G>A:p.Arg297Gln	coding	Pathogenic
1	110603894	G	A	G110603894A	KCNA2	NM_004974.4(KCNA2):c.889C>T:p.Arg297Trp	coding	Pathogenic
1	110603902	C	T	C110603902T	KCNA2	NM_004974.4(KCNA2):c.881G>A:p.Arg294His	coding	Pathogenic
1	110603976	G	A	G110603976A	KCNA2	NM_004974.4(KCNA2):c.807C>T:p.Thr269=	coding	Benign/Likely_benign
1	110604570	G	A	G110604570A	KCNA2	NM_004974.4(KCNA2):c.213C>T:p.Pro71=	coding	Benign/Likely_benign
1	110673184	G	A	G110673184A	KCNA3	NM_002232.5(KCNA3):c.1626C>T:p.Phe542=	coding	Benign
1	110674144	C	A	C110674144A	KCNA3	NM_002232.5(KCNA3):c.666G>T:p.Leu222=	coding	Benign
1	111118183	G	A	G111118183A	DRAM2	NM_178454.5(DRAM2):c.778C>T:p.Arg260Trp	coding	Benign
1	111118791	T	C	T111118791C	DRAM2	NM_178454.5(DRAM2):c.693+14A>G	noncoding	Benign
1	111118906	T	C	T111118906C	DRAM2	NM_178454.5(DRAM2):c.601-9A>G	noncoding	Benign
1	111120539	C	T	C111120539T	DRAM2	NM_178454.5(DRAM2):c.494G>A:p.Trp165Ter	coding	Pathogenic
1	111120671	T	A	T111120671A	DRAM2	NM_178454.5(DRAM2):c.362A>T:p.His121Leu	coding	Pathogenic
1	111131424	C	T	C111131424T	DRAM2	NM_178454.5(DRAM2):c.131G>A:p.Ser44Asn	coding	Pathogenic
1	111131476	A	G	A111131476G	DRAM2	NM_178454.5(DRAM2):c.79T>C:p.Tyr27His	coding	Pathogenic
1	111159398	A	G	A111159398G	CEPT1	NM_006090.5(CEPT1):c.358A>G:p.Ile120Val	coding	Benign
1	111235708	G	A	G111235708A	CHI3L2	NM_004000.3(CHI3L2):c.550G>A:p.Val184Ile	coding	Benign
1	111241360	C	T	C111241360T	CHI3L2	NM_004000.3(CHI3L2):c.952C>T:p.Arg318Trp	coding	Benign
1	111242359	C	T	C111242359T	CHI3L2	NM_004000.3(CHI3L2):c.1168C>T:p.Leu390=	coding	Benign
1	111312237	C	T	C111312237T	CHIA	NM_201653.4(CHIA):c.103C>T:p.Arg35Trp	coding	Benign
1	111315429	G	C	G111315429C	CHIA	NM_201653.4(CHIA):c.474G>C:p.Leu158=	coding	Benign
1	111318516	G	A	G111318516A	CHIA	NM_201653.4(CHIA):c.753G>A:p.Lys251=	coding	Benign
1	111318579	C	A	C111318579A	CHIA	NM_201653.4(CHIA):c.816C>A:p.Ile272=	coding	Benign
1	111318646	G	A	G111318646A	CHIA	NM_201653.4(CHIA):c.883G>A:p.Ala295Thr	coding	Benign
1	111319154	G	A	G111319154A	CHIA	NM_201653.4(CHIA):c.950G>A:p.Gly317Glu	coding	Benign
1	111319359	C	T	C111319359T	CHIA	NM_201653.4(CHIA):c.1068C>T:p.Gly356=	coding	Benign
1	111414748	G	C	G111414748C	OVGP1	NM_002557.4(OVGP1):c.1753C>G:p.Pro585Ala	coding	Benign
1	111414903	G	C	G111414903C	OVGP1	NM_002557.4(OVGP1):c.1598C>G:p.Thr533Ser	coding	Benign
1	111415099	C	T	C111415099T	OVGP1	NM_002557.4(OVGP1):c.1402G>A:p.Gly468Arg	coding	Benign
1	111422994	G	A	G111422994A	OVGP1	NM_002557.4(OVGP1):c.541C>T:p.Leu181=	coding	Benign
1	111697503	G	A	G111697503A	RAP1A	NM_001010935.2(RAP1A):c.183+6G>A	noncoding	Benign
1	111766199	C	A	C111766199A	DDX20	NM_007204.5(DDX20):c.1775C>A:p.Ala592Asp	coding	Benign
1	111776086	G	A	G111776086A	KCND3	NM_004980.4(KCND3):c.1959C>T:p.Ser653=	coding	Benign/Likely_benign
1	111776251	G	A	G111776251A	KCND3	NM_004980.4(KCND3):c.1794C>T:p.Asp598=	coding	Benign
1	111776350	A	G	A111776350G	KCND3	NM_004980.4(KCND3):c.1767-72T>C	noncoding	Benign
1	111776766	A	G	A111776766G	KCND3	NM_004980.4(KCND3):c.1766+260T>C	noncoding	Benign
1	111777277	C	A	C111777277A	KCND3	NM_004980.4(KCND3):c.1519-4G>T	noncoding	Benign
1	111778178	C	T	C111778178T	KCND3	NM_004980.4(KCND3):c.1518+258G>A	noncoding	Benign
1	111778700	T	C	T111778700C	KCND3	NM_004980.4(KCND3):c.1462-208A>G	noncoding	Benign
1	111780738	G	A	G111780738A	KCND3	NM_004980.4(KCND3):c.1323C>T:p.Tyr441=	coding	Benign
1	111780753	G	C	G111780753C	KCND3	NM_004980.4(KCND3):c.1308C>G:p.Gly436=	coding	Benign/Likely_benign
1	111786674	G	A	G111786674A	KCND3	NM_004980.4(KCND3):c.1269+270C>T	noncoding	Benign
1	111786790	G	A	G111786790A	KCND3	NM_004980.4(KCND3):c.1269+154C>T	noncoding	Benign
1	111786929	G	T	G111786929T	KCND3	NM_004980.4(KCND3):c.1269+15C>A	noncoding	Benign
1	111787060	A	G	A111787060G	KCND3	NM_004980.4(KCND3):c.1153T>C:p.Ser385Pro	coding	Pathogenic
1	111787082	C	A	C111787082A	KCND3	NM_004980.4(KCND3):c.1131G>T:p.Thr377=	coding	Benign/Likely_benign
1	111787083	G	A	G111787083A	KCND3	NM_004980.4(KCND3):c.1130C>T:p.Thr377Met	coding	Pathogenic
1	111787090	G	A	G111787090A	KCND3	NM_004980.4(KCND3):c.1123C>T:p.Pro375Ser	coding	Pathogenic
1	111787102	C	T	C111787102T	KCND3	NM_004980.4(KCND3):c.1111G>A:p.Gly371Arg	coding	Pathogenic/Likely_pathogenic
1	111981611	G	A	G111981611A	KCND3	NM_004980.4(KCND3):c.1106+10C>T	noncoding	Benign/Likely_benign
1	111981665	G	T	G111981665T	KCND3	NM_004980.4(KCND3):c.1062C>A:p.Ile354=	coding	Benign/Likely_benign
1	111981673	T	G	T111981673G	KCND3	NM_004980.4(KCND3):c.1054A>C:p.Thr352Pro	coding	Pathogenic
1	111981693	C	A	C111981693A	KCND3	NM_004980.4(KCND3):c.1034G>T:p.Gly345Val	coding	Pathogenic
1	111981714	A	T	A111981714T	KCND3	NM_004980.4(KCND3):c.1013T>A:p.Val338Glu	coding	Pathogenic
1	111981770	G	A	G111981770A	KCND3	NM_004980.4(KCND3):c.957C>T:p.Ser319=	coding	Benign
1	111981770	G	C	G111981770C	KCND3	NM_004980.4(KCND3):c.957C>G:p.Ser319=	coding	Benign
1	111981777	C	T	C111981777T	KCND3	NM_004980.4(KCND3):c.950G>A:p.Cys317Tyr	coding	Pathogenic
1	111981857	C	A	C111981857A	KCND3	NM_004980.4(KCND3):c.870G>T:p.Arg290=	coding	Benign
1	111981938	G	A	G111981938A	KCND3	NM_004980.4(KCND3):c.789C>T:p.Asp263=	coding	Benign
1	111982031	C	T	C111982031T	KCND3	NM_004980.4(KCND3):c.696G>A:p.Ala232=	coding	Benign
1	111982058	C	G	C111982058G	KCND3	NM_004980.4(KCND3):c.669G>C:p.Ser223=	coding	Benign
1	111982094	C	A	C111982094A	KCND3	NM_004980.4(KCND3):c.633G>T:p.Pro211=	coding	Benign/Likely_benign
1	111982100	C	G	C111982100G	KCND3	NM_004980.4(KCND3):c.627G>C:p.Thr209=	coding	Benign/Likely_benign
1	111982268	C	T	C111982268T	KCND3	NM_004980.4(KCND3):c.459G>A:p.Ser153=	coding	Benign/Likely_benign
1	111982352	C	T	C111982352T	KCND3	NM_004980.4(KCND3):c.375G>A:p.Pro125=	coding	Benign
1	111982463	G	A	G111982463A	KCND3	NM_004980.4(KCND3):c.264C>T:p.Pro88=	coding	Benign
1	111982520	C	T	C111982520T	KCND3	NM_004980.4(KCND3):c.207G>A:p.Thr69=	coding	Benign/Likely_benign
1	111982610	A	G	A111982610G	KCND3	NM_004980.4(KCND3):c.117T>C:p.Asp39=	coding	Benign/Likely_benign
1	111983109	A	G	A111983109G	KCND3	NM_004980.4(KCND3):c.-72-311T>C	noncoding	Benign
1	112449053	G	A	G112449053A	CTTNBP2NL	NM_018704.3(CTTNBP2NL):c.211G>A:p.Glu71Lys	coding	Benign
1	112456408	A	G	A112456408G	CTTNBP2NL	NM_018704.3(CTTNBP2NL):c.916A>G:p.Met306Val	coding	Benign
1	112514896	C	T	C112514896T	WNT2B	NM_024494.3(WNT2B):c.205C>T:p.Arg69Ter	coding	Pathogenic
1	112514993	G	A	G112514993A	WNT2B	NM_024494.3(WNT2B):c.302G>A:p.Arg101Gln	coding	Benign
1	112517171	T	C	T112517171C	WNT2B	NM_024494.3(WNT2B):c.732T>C:p.Gly244=	coding	Benign
1	112520473	A	G	A112520473G	WNT2B	NM_024494.3(WNT2B):c.1140A>G:p.Lys380=	coding	Benign
1	112526029	C	T	C112526029T	ST7L	NM_017744.5(ST7L):c.1712G>A:p.Gly571Asp	coding	Benign
1	112616842	T	A	T112616842A	ST7L	NM_017744.5(ST7L):c.259A>T:p.Thr87Ser	coding	Benign
1	112674990	G	A	G112674990A	MOV10	NM_001130079.2(MOV10):c.78G>A:p.Leu26=	coding	Benign
1	112689610	C	T	C112689610T	MOV10	NM_001130079.2(MOV10):c.537C>T:p.Phe179=	coding	Benign
1	112694012	C	T	C112694012T	MOV10	NM_001130079.2(MOV10):c.1141-6C>T	noncoding	Benign
1	112695579	T	C	T112695579C	MOV10	NM_001130079.2(MOV10):c.1779+5T>C	noncoding	Benign
1	112696165	C	T	C112696165T	MOV10	NM_001130079.2(MOV10):c.1797C>T:p.Asp599=	coding	Benign
1	112696446	G	C	G112696446C	MOV10	NM_001130079.2(MOV10):c.1893G>C:p.Ser631=	coding	Benign
1	112700474	G	T	G112700474T	MOV10	NM_001130079.2(MOV10):c.2979G>T:p.Leu993=	coding	Benign
1	112911949	A	G	A112911949G	SLC16A1	NM_003051.3(SLC16A1):c.*1942T>C	noncoding	Benign
1	112912477	G	A	G112912477A	SLC16A1	NM_003051.3(SLC16A1):c.*1414C>T	noncoding	Benign
1	112913924	A	T	A112913924T	SLC16A1	NM_003051.3(SLC16A1):c.1470T>A:p.Asp490Glu	coding	Benign
1	112914112	C	T	C112914112T	SLC16A1	NM_003051.4(SLC16A1):c.1282G>A:p.Val428Ile	coding	Benign/Likely_benign
1	112917404	C	T	C112917404T	SLC16A1	NM_003051.3(SLC16A1):c.1002G>A:p.Ala334=	coding	Benign/Likely_benign
1	112917424	G	A	G112917424A	SLC16A1	NM_003051.3(SLC16A1):c.982C>T:p.Arg328Ter	coding	Pathogenic
1	112917433	T	C	T112917433C	SLC16A1	NM_003051.4(SLC16A1):c.973A>G:p.Ile325Val	coding	Benign
1	112917468	C	T	C112917468T	SLC16A1	NM_003051.3(SLC16A1):c.938G>A:p.Arg313Gln	coding	Pathogenic
1	112917469	G	A	G112917469A	SLC16A1	NM_003051.3(SLC16A1):c.937C>T:p.Arg313Ter	coding	Pathogenic
1	112917796	T	C	T112917796C	SLC16A1	NM_003051.3(SLC16A1):c.610A>G:p.Lys204Glu	coding	Pathogenic
1	112917820	G	A	G112917820A	SLC16A1	NM_003051.3(SLC16A1):c.586C>T:p.Arg196Ter	coding	Pathogenic
1	112956192	C	T	C112956192T	SLC16A1	NM_003051.3(SLC16A1):c.-202G>A	noncoding	Pathogenic
1	113095872	A	C	A113095872C	LRIG2	NM_014813.3(LRIG2):c.804-2A>C	noncoding	Pathogenic
1	113107685	G	A	G113107685A	LRIG2	NM_014813.3(LRIG2):c.1405G>A:p.Val469Ile	coding	Benign
1	113110452	G	C	G113110452C	LRIG2	NM_014813.3(LRIG2):c.1688G>C:p.Ser563Thr	coding	Benign
1	113110556	G	T	G113110556T	LRIG2	NM_014813.3(LRIG2):c.1792G>T:p.Val598Leu	coding	Benign
1	113114471	C	T	C113114471T	LRIG2	NM_014813.3(LRIG2):c.2125C>T:p.Arg709Ter	coding	Pathogenic
1	113116443	A	G	A113116443G	LRIG2	NM_014813.3(LRIG2):c.2680+7A>G	noncoding	Benign
1	113119296	C	T	C113119296T	LRIG2	NM_014813.3(LRIG2):c.2744C>T:p.Thr915Ile	coding	Benign
1	113585502	G	A	G113585502A	MAGI3	NM_001142782.2(MAGI3):c.669G>A:p.Thr223=	coding	Benign
1	113683531	C	T	C113683531T	MAGI3	NM_001142782.2(MAGI3):c.3963C>T:p.Gly1321=	coding	Benign
1	113768335	G	A	G113768335A	RSBN1	NM_018364.4(RSBN1):c.1713C>T:p.Arg571=	coding	Benign
1	113830008	G	C	G113830008C	PTPN22	NM_015967.7(PTPN22):c.2075C>G:p.Ser692Cys	coding	Benign
1	113834363	A	T	A113834363T	PTPN22	NM_015967.7(PTPN22):c.1971T>A:p.Gly657=	coding	Benign
1	113837886	G	C	G113837886C	PTPN22	NM_015967.7(PTPN22):c.1514C>G:p.Ser505Cys	coding	Benign
1	113859082	T	C	T113859082C	PTPN22	NM_015967.7(PTPN22):c.197-4A>G	noncoding	Benign
1	113859401	A	G	A113859401G	PTPN22	NM_015967.7(PTPN22):c.147T>C:p.Ala49=	coding	Benign
1	113895501	G	C	G113895501C	AP4B1	NM_001253852.3(AP4B1):c.1793-9C>G	noncoding	Benign
1	113896256	A	G	A113896256G	AP4B1	NM_001253852.3(AP4B1):c.1510+2T>C	noncoding	Pathogenic
1	113896329	A	G	A113896329G	AP4B1	NM_001253852.3(AP4B1):c.1439T>C:p.Leu480Ser	coding	Benign
1	113896403	A	G	A113896403G	AP4B1	NM_001253852.3(AP4B1):c.1365T>C:p.Tyr455=	coding	Benign/Likely_benign
1	113896423	T	A	T113896423A	AP4B1	NM_001253852.3(AP4B1):c.1345A>T:p.Arg449Ter	coding	Pathogenic
1	113897926	G	A	G113897926A	AP4B1	NM_001253852.3(AP4B1):c.1216C>T:p.Arg406Ter	coding	Pathogenic/Likely_pathogenic
1	113898727	T	C	T113898727C	AP4B1	NM_001253852.3(AP4B1):c.1189A>G:p.Ile397Val	coding	Benign
1	113898739	G	A	G113898739A	AP4B1	NM_001253852.3(AP4B1):c.1177C>T:p.Arg393Ter	coding	Pathogenic
1	113900050	G	A	G113900050A	AP4B1	NM_001253852.3(AP4B1):c.968C>T:p.Ser323Leu	coding	Benign
1	113900106	C	T	C113900106T	AP4B1	NM_001253852.3(AP4B1):c.912G>A:p.Leu304=	coding	Benign
1	113900124	A	T	A113900124T	AP4B1	NM_001253852.3(AP4B1):c.894T>A:p.Cys298Ter	coding	Pathogenic
1	113900215	T	C	T113900215C	AP4B1	NM_001253852.3(AP4B1):c.803A>G:p.His268Arg	coding	Benign/Likely_benign
1	113900413	C	G	C113900413G	AP4B1	NM_001253852.3(AP4B1):c.618-13G>C	coding	Benign/Likely_benign
1	113901277	G	A	G113901277A	AP4B1	NM_001253852.3(AP4B1):c.576C>T:p.Gly192=	coding	Benign
1	113901822	T	G	T113901822G	AP4B1	NM_001253852.3(AP4B1):c.402A>C:p.Ser134=	coding	Benign
1	113902736	T	C	T113902736C	AP4B1	NM_001253852.3(AP4B1):c.240A>G:p.Pro80=	coding	Benign/Likely_benign
1	113902825	T	G	T113902825G	AP4B1	NM_001253852.3(AP4B1):c.151A>C:p.Met51Leu	coding	Benign
1	113902864	T	C	T113902864C	AP4B1	NM_001253852.3(AP4B1):c.114-2A>G	noncoding	Pathogenic
1	113902864	T	G	T113902864G	AP4B1	NM_001253852.3(AP4B1):c.114-2A>C	noncoding	Pathogenic
1	113904649	T	C	T113904649C	AP4B1	NM_001253852.3(AP4B1):c.69A>G:p.Gln23=	coding	Benign
1	113904943	G	A	G113904943A	AP4B1	NM_006594.5(AP4B1):c.-78C>T	noncoding	Benign
1	113911894	C	T	C113911894T	DCLRE1B	NM_022836.4(DCLRE1B):c.1302C>T:p.His434=	coding	Benign
1	113911976	G	A	G113911976A	DCLRE1B	NM_022836.4(DCLRE1B):c.1384G>A:p.Asp462Asn	coding	Benign
1	113912120	A	T	A113912120T	DCLRE1B	NM_022836.4(DCLRE1B):c.1528A>T:p.Asn510Tyr	coding	Benign
1	113981547	C	T	C113981547T	OLFML3	NM_020190.5(OLFML3):c.999C>T:p.Val333=	coding	Benign
1	113981724	G	A	G113981724A	OLFML3	NM_020190.5(OLFML3):c.1176G>A:p.Gln392=	coding	Benign
1	114402772	G	A	G114402772A	TRIM33	NM_015906.4(TRIM33):c.2880C>T:p.Pro960=	coding	Benign
1	114405687	A	G	A114405687G	TRIM33	NM_015906.4(TRIM33):c.2491T>C:p.Leu831=	coding	Benign
1	114421583	G	C	G114421583C	TRIM33	NM_015906.4(TRIM33):c.1914C>G:p.Thr638=	coding	Benign
1	114421610	G	C	G114421610C	TRIM33	NM_015906.4(TRIM33):c.1887C>G:p.Pro629=	coding	Benign
1	114581582	T	C	T114581582C	BCAS2	NM_005872.3(BCAS2):c.10A>G:p.Thr4Ala	coding	Benign
1	114673772	A	T	A114673772T	AMPD1	NM_000036.2(AMPD1):c.2074-23T>A	noncoding	Benign
1	114673936	A	G	A114673936G	AMPD1	NM_000036.2(AMPD1):c.2046T>C:p.Asp682=	coding	Benign
1	114673972	G	A	G114673972A	AMPD1	NM_000036.2(AMPD1):c.2010C>T:p.Phe670=	coding	Benign
1	114674038	G	A	G114674038A	AMPD1	NM_000036.2(AMPD1):c.1944C>T:p.Ile648=	coding	Benign
1	114675928	C	T	C114675928T	AMPD1	NM_000036.2(AMPD1):c.1563G>A:p.Glu521=	coding	Benign
1	114677902	C	T	C114677902T	AMPD1	NM_000036.2(AMPD1):c.1323+8G>A	noncoding	Benign
1	114678012	C	T	C114678012T	AMPD1	NM_000036.2(AMPD1):c.1221G>A:p.Lys407=	coding	Benign
1	114680474	A	G	A114680474G	AMPD1	NM_000036.2(AMPD1):c.651T>C:p.Phe217=	coding	Benign
1	114686792	C	T	C114686792T	AMPD1	NM_000036.2(AMPD1):c.433G>A:p.Val145Met	coding	Benign/Likely_benign
1	114686883	A	C	A114686883C	AMPD1	NM_000036.2(AMPD1):c.342T>G:p.Thr114=	coding	Benign
1	114686902	C	T	C114686902T	AMPD1	NM_000036.2(AMPD1):c.323G>A:p.Arg108His	coding	Benign
1	114688551	C	T	C114688551T	AMPD1	NM_000036.2(AMPD1):c.314+10G>A	noncoding	Benign
1	114688581	G	A	G114688581A	AMPD1	NM_000036.2(AMPD1):c.294C>T:p.Ser98=	coding	Benign
1	114688677	T	C	T114688677C	AMPD1	NM_000036.2(AMPD1):c.198A>G:p.Gly66=	coding	Benign
1	114704710	G	A	G114704710A	NRAS	NM_002524.5(NRAS):c.*3384C>T	noncoding	Benign
1	114705427	A	G	A114705427G	NRAS	NM_002524.5(NRAS):c.*2667T>C	noncoding	Benign
1	114705432	C	T	C114705432T	NRAS	NM_002524.5(NRAS):c.*2662G>A	noncoding	Benign
1	114707222	G	A	G114707222A	NRAS	NM_002524.5(NRAS):c.*872C>T	noncoding	Benign
1	114707354	C	T	C114707354T	NRAS	NM_002524.5(NRAS):c.*740G>A	noncoding	Benign
1	114707407	T	C	T114707407C	NRAS	NM_002524.5(NRAS):c.*687A>G	noncoding	Benign
1	114707748	C	T	C114707748T	NRAS	NM_002524.5(NRAS):c.*346G>A	noncoding	Benign
1	114708698	C	T	C114708698T	NRAS	NM_002524.5(NRAS):c.451-44G>A	noncoding	Benign
1	114708854	G	A	G114708854A	NRAS	NM_002524.5(NRAS):c.451-200C>T	noncoding	Benign
1	114708988	C	T	C114708988T	NRAS	NM_002524.5(NRAS):c.451-334G>A	noncoding	Benign
1	114709551	C	A	C114709551A	NRAS	NM_002524.5(NRAS):c.450+18G>T	noncoding	Benign
1	114713865	G	A	G114713865A	NRAS	NM_002524.5(NRAS):c.225C>T:p.Gly75=	coding	Benign/Likely_benign
1	114713907	T	A	T114713907A	NRAS	NM_002524.5(NRAS):c.183A>T:p.Gln61His	coding	Pathogenic
1	114713907	T	G	T114713907G	NRAS	NM_002524.5(NRAS):c.183A>C:p.Gln61His	coding	Pathogenic/Likely_pathogenic
1	114713908	T	A	T114713908A	NRAS	NM_002524.5(NRAS):c.182A>T:p.Gln61Leu	coding	Pathogenic/Likely_pathogenic
1	114713908	T	C	T114713908C	NRAS	NM_002524.5(NRAS):c.182A>G:p.Gln61Arg	coding	Pathogenic
1	114713908	T	G	T114713908G	NRAS	NM_002524.5(NRAS):c.182A>C:p.Gln61Pro	coding	Pathogenic
1	114713909	G	C	G114713909C	NRAS	NM_002524.5(NRAS):c.181C>G:p.Gln61Glu	coding	Pathogenic
1	114713911	C	T	C114713911T	NRAS	NM_002524.5(NRAS):c.179G>A:p.Gly60Glu	coding	Pathogenic
1	114713931	C	T	C114713931T	NRAS	NM_002524.5(NRAS):c.159G>A:p.Leu53=	coding	Benign/Likely_benign
1	114713941	G	A	G114713941A	NRAS	NM_002524.5(NRAS):c.149C>T:p.Thr50Ile	coding	Pathogenic
1	114716060	G	A	G114716060A	NRAS	NM_002524.5(NRAS):c.101C>T:p.Pro34Leu	coding	Pathogenic
1	114716090	A	T	A114716090T	NRAS	NM_002524.5(NRAS):c.71T>A:p.Ile24Asn	coding	Pathogenic
1	114716123	C	A	C114716123A	NRAS	NM_002524.5(NRAS):c.38G>T:p.Gly13Val	coding	Pathogenic/Likely_pathogenic
1	114716123	C	G	C114716123G	NRAS	NM_002524.5(NRAS):c.38G>C:p.Gly13Ala	coding	Pathogenic
1	114716123	C	T	C114716123T	NRAS	NM_002524.5(NRAS):c.38G>A:p.Gly13Asp	coding	Pathogenic
1	114716124	C	A	C114716124A	NRAS	NM_002524.5(NRAS):c.37G>T:p.Gly13Cys	coding	Pathogenic
1	114716124	C	G	C114716124G	NRAS	NM_002524.5(NRAS):c.37G>C:p.Gly13Arg	coding	Pathogenic/Likely_pathogenic
1	114716126	C	A	C114716126A	NRAS	NM_002524.5(NRAS):c.35G>T:p.Gly12Val	coding	Pathogenic
1	114716126	C	G	C114716126G	NRAS	NM_002524.5(NRAS):c.35G>C:p.Gly12Ala	coding	Pathogenic
1	114716126	C	T	C114716126T	NRAS	NM_002524.5(NRAS):c.35G>A:p.Gly12Asp	coding	Pathogenic
1	114716127	C	A	C114716127A	NRAS	NM_002524.5(NRAS):c.34G>T:p.Gly12Cys	coding	Pathogenic
1	114716127	C	G	C114716127G	NRAS	NM_002524.5(NRAS):c.34G>C:p.Gly12Arg	coding	Pathogenic
1	114716127	C	T	C114716127T	NRAS	NM_002524.5(NRAS):c.34G>A:p.Gly12Ser	coding	Pathogenic
1	114716690	T	C	T114716690C	NRAS	NM_002524.5(NRAS):c.-50A>G	noncoding	Benign/Likely_benign
1	114718221	G	T	G114718221T	CSDE1	NM_001007553.3(CSDE1):c.2350-5C>A	noncoding	Benign
1	114719698	A	G	A114719698G	CSDE1	NM_001007553.3(CSDE1):c.2097T>C:p.Phe699=	coding	Benign
1	114719746	A	G	A114719746G	CSDE1	NM_001007553.3(CSDE1):c.2053-4T>C	noncoding	Benign
1	114720626	T	C	T114720626C	CSDE1	NM_001007553.3(CSDE1):c.1965A>G:p.Gln655=	coding	Benign
1	114736778	A	G	A114736778G	CSDE1	NM_001007553.3(CSDE1):c.480T>C:p.Phe160=	coding	Benign
1	114738047	C	T	C114738047T	CSDE1	NM_001007553.3(CSDE1):c.225G>A:p.Ser75=	coding	Benign
1	114858570	G	A	G114858570A	SYCP1	NM_003176.4(SYCP1):c.315G>A:p.Val105=	coding	Benign
1	114860747	C	T	C114860747T	SYCP1	NM_003176.4(SYCP1):c.536C>T:p.Thr179Ile	coding	Benign
1	114911577	C	T	C114911577T	SYCP1	NM_003176.4(SYCP1):c.1524C>T:p.Asn508=	coding	Benign
1	114913023	T	A	T114913023A	SYCP1	NM_003176.4(SYCP1):c.1530-10T>A	noncoding	Benign
1	115033402	A	G	A115033402G	TSHB	NM_000549.5(TSHB):c.40A>G:p.Thr14Ala	coding	Benign
1	115033456	G	T	G115033456T	TSHB	NM_000549.5(TSHB):c.94G>T:p.Glu32Ter	coding	Pathogenic
1	115033507	G	A	G115033507A	TSHB	NM_000549.5(TSHB):c.145G>A:p.Gly49Arg	coding	Pathogenic
1	115033529	G	A	G115033529A	TSHB	NM_000549.5(TSHB):c.162+5G>A	noncoding	Pathogenic
1	115034033	A	G	A115034033G	TSHB	NM_000549.5(TSHB):c.223A>G:p.Arg75Gly	coding	Benign/Likely_benign
1	115034106	T	C	T115034106C	TSHB	NM_000549.5(TSHB):c.296T>C:p.Val99Ala	coding	Benign
1	115058974	C	A	C115058974A	TSPAN2	NM_005725.6(TSPAN2):c.353G>T:p.Arg118Leu	coding	Benign
1	115060547	G	A	G115060547A	TSPAN2	NM_005725.6(TSPAN2):c.271-9C>T	noncoding	Benign
1	115286135	G	A	G115286135A	NGF	NM_002506.2(NGF):c.661C>T:p.Arg221Trp	coding	Pathogenic
1	115286557	C	T	C115286557T	NGF	NM_002506.2(NGF):c.239G>A:p.Arg80Gln	coding	Benign/Likely_benign
1	115286582	C	T	C115286582T	NGF	NM_002506.2(NGF):c.214G>A:p.Val72Met	coding	Benign
1	115286623	G	A	G115286623A	NGF	NM_002506.2(NGF):c.173C>T:p.Ala58Val	coding	Benign
1	115286692	G	A	G115286692A	NGF	NM_002506.2(NGF):c.104C>T:p.Ala35Val	coding	Benign
1	115286718	G	A	G115286718A	NGF	NM_002506.2(NGF):c.78C>T:p.Val26=	coding	Benign/Likely_benign
1	115286742	C	T	C115286742T	NGF	NM_002506.2(NGF):c.54G>A:p.Ala18=	coding	Benign
1	115338434	G	A	G115338434A	NGF	NM_002506.2(NGF):c.-367C>T	noncoding	Benign
1	115641985	G	A	G115641985A	VANGL1	NM_138959.3(VANGL1):c.-239G>A	noncoding	Benign/Likely_benign
1	115641998	G	C	G115641998C	VANGL1	NM_138959.3(VANGL1):c.-226G>C	noncoding	Benign
1	115642000	C	A	C115642000A	VANGL1	NM_138959.3(VANGL1):c.-224C>A	noncoding	Benign
1	115663657	C	T	C115663657T	VANGL1	NM_138959.3(VANGL1):c.205-4C>T	noncoding	Benign
1	115663704	C	T	C115663704T	VANGL1	NM_138959.3(VANGL1):c.248C>T:p.Ser83Leu	coding	Benign
1	115663741	C	T	C115663741T	VANGL1	NM_138959.3(VANGL1):c.285C>T:p.Ile95=	coding	Benign/Likely_benign
1	115663779	A	G	A115663779G	VANGL1	NM_138959.3(VANGL1):c.323A>G:p.Lys108Arg	coding	Benign/Likely_benign
1	115663786	C	T	C115663786T	VANGL1	NM_138959.3(VANGL1):c.330C>T:p.Tyr110=	coding	Benign/Likely_benign
1	115663801	C	T	C115663801T	VANGL1	NM_138959.3(VANGL1):c.345C>T:p.Val115=	coding	Benign/Likely_benign
1	115663802	G	A	G115663802A	VANGL1	NM_138959.3(VANGL1):c.346G>A:p.Ala116Thr	coding	Benign
1	115663891	T	C	T115663891C	VANGL1	NM_138959.3(VANGL1):c.435T>C:p.Cys145=	coding	Benign/Likely_benign
1	115663974	G	A	G115663974A	VANGL1	NM_138959.3(VANGL1):c.518G>A:p.Arg173His	coding	Benign
1	115684037	A	C	A115684037C	VANGL1	NM_138959.3(VANGL1):c.1040A>C:p.Glu347Ala	coding	Benign
1	115685340	A	G	A115685340G	VANGL1	NM_138959.3(VANGL1):c.1127A>G:p.Gln376Arg	coding	Benign/Likely_benign
1	115691426	G	T	G115691426T	VANGL1	NM_138959.3(VANGL1):c.*47G>T	noncoding	Benign/Likely_benign
1	115691462	T	A	T115691462A	VANGL1	NM_138959.3(VANGL1):c.*83T>A	noncoding	Benign
1	115691596	C	T	C115691596T	VANGL1	NM_138959.3(VANGL1):c.*217C>T	noncoding	Benign
1	115691679	C	T	C115691679T	VANGL1	NM_138959.3(VANGL1):c.*300C>T	noncoding	Benign
1	115691692	A	G	A115691692G	VANGL1	NM_138959.3(VANGL1):c.*313A>G	noncoding	Benign
1	115691762	C	G	C115691762G	VANGL1	NM_138959.3(VANGL1):c.*383C>G	noncoding	Benign/Likely_benign
1	115691795	G	A	G115691795A	VANGL1	NM_138959.3(VANGL1):c.*416G>A	noncoding	Benign
1	115691884	A	G	A115691884G	VANGL1	NM_138959.3(VANGL1):c.*505A>G	noncoding	Benign
1	115692086	C	T	C115692086T	VANGL1	NM_138959.3(VANGL1):c.*707C>T	noncoding	Benign/Likely_benign
1	115692656	C	T	C115692656T	VANGL1	NM_138959.3(VANGL1):c.*1277C>T	noncoding	Benign
1	115693006	A	G	A115693006G	VANGL1	NM_138959.3(VANGL1):c.*1627A>G	noncoding	Benign
1	115693031	C	T	C115693031T	VANGL1	NM_138959.3(VANGL1):c.*1652C>T	noncoding	Benign/Likely_benign
1	115693128	G	T	G115693128T	VANGL1	NM_138959.3(VANGL1):c.*1749G>T	noncoding	Benign
1	115693151	A	G	A115693151G	VANGL1	NM_138959.3(VANGL1):c.*1772A>G	noncoding	Benign/Likely_benign
1	115693422	C	T	C115693422T	VANGL1	NM_138959.3(VANGL1):c.*2043C>T	noncoding	Benign
1	115693566	T	C	T115693566C	VANGL1	NM_138959.3(VANGL1):c.*2187T>C	noncoding	Benign/Likely_benign
1	115693723	A	C	A115693723C	VANGL1	NM_138959.3(VANGL1):c.*2344A>C	noncoding	Benign/Likely_benign
1	115693730	T	G	T115693730G	VANGL1	NM_138959.3(VANGL1):c.*2351T>G	noncoding	Benign
1	115693868	C	T	C115693868T	VANGL1	NM_138959.3(VANGL1):c.*2489C>T	noncoding	Benign
1	115693960	G	A	G115693960A	VANGL1	NM_138959.3(VANGL1):c.*2581G>A	noncoding	Benign
1	115694244	A	G	A115694244G	VANGL1	NM_138959.3(VANGL1):c.*2865A>G	noncoding	Benign/Likely_benign
1	115694402	G	T	G115694402T	VANGL1	NM_138959.3(VANGL1):c.*3023G>T	noncoding	Benign
1	115694715	G	A	G115694715A	VANGL1	NM_138959.3(VANGL1):c.*3336G>A	noncoding	Benign/Likely_benign
1	115694796	C	T	C115694796T	VANGL1	NM_138959.3(VANGL1):c.*3417C>T	noncoding	Benign
1	115694875	T	A	T115694875A	VANGL1	NM_138959.3(VANGL1):c.*3496T>A	noncoding	Benign
1	115694923	C	T	C115694923T	VANGL1	NM_138959.3(VANGL1):c.*3544C>T	noncoding	Benign/Likely_benign
1	115695032	C	T	C115695032T	VANGL1	NM_138959.3(VANGL1):c.*3653C>T	noncoding	Benign/Likely_benign
1	115695857	C	T	C115695857T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*4478C>T	noncoding	Benign/Likely_benign
1	115695883	C	T	C115695883T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*4504C>T	noncoding	Benign/Likely_benign
1	115696167	C	G	C115696167G	VANGL1	NM_138959.3(VANGL1):c.*4788C>G	noncoding	Benign/Likely_benign
1	115696387	T	A	T115696387A	VANGL1	NM_138959.3(VANGL1):c.*5008T>A	noncoding	Benign/Likely_benign
1	115696645	C	T	C115696645T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5266C>T	noncoding	Benign/Likely_benign
1	115696747	G	A	G115696747A	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5368G>A	noncoding	Benign/Likely_benign
1	115696823	C	G	C115696823G	VANGL1	NM_138959.3(VANGL1):c.*5444C>G	noncoding	Benign/Likely_benign
1	115697012	T	G	T115697012G	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5633T>G	noncoding	Benign/Likely_benign
1	115697130	A	G	A115697130G	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5751A>G	noncoding	Benign/Likely_benign
1	115697220	A	T	A115697220T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5841A>T	noncoding	Benign/Likely_benign
1	115697374	A	T	A115697374T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*5995A>T	noncoding	Benign/Likely_benign
1	115697405	G	A	G115697405A	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*6026G>A	noncoding	Benign/Likely_benign
1	115697578	A	T	A115697578T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*6199A>T	noncoding	Benign/Likely_benign
1	115697591	C	T	C115697591T	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*6212C>T	noncoding	Benign/Likely_benign
1	115697700	T	G	T115697700G	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*6321T>G	noncoding	Benign/Likely_benign
1	115698100	A	G	A115698100G	CASQ2;VANGL1	NM_138959.3(VANGL1):c.*6721A>G	noncoding	Benign/Likely_benign
1	115700609	C	G	C115700609G	CASQ2;VANGL1	NM_001232.3(CASQ2):c.*632G>C	noncoding	Benign/Likely_benign
1	115700759	G	A	G115700759A	CASQ2;VANGL1	NM_001232.3(CASQ2):c.*482C>T	noncoding	Benign/Likely_benign
1	115701098	C	T	C115701098T	CASQ2;VANGL1	NM_001232.3(CASQ2):c.*143G>A	noncoding	Benign/Likely_benign
1	115701103	A	G	A115701103G	CASQ2;VANGL1	NM_001232.3(CASQ2):c.*138T>C	noncoding	Benign/Likely_benign
1	115701247	A	G	A115701247G	CASQ2;VANGL1	NM_001232.4(CASQ2):c.1194T>C:p.Asp398=	coding	Benign/Likely_benign
1	115701256	G	A	G115701256A	VANGL1;CASQ2	NM_001232.4(CASQ2):c.1185C>T:p.Asp395=	coding	Benign/Likely_benign
1	115701545	C	T	C115701545T	CASQ2	NM_001232.3(CASQ2):c.1015-119G>A	noncoding	Benign
1	115701677	C	A	C115701677A	CASQ2	NM_001232.3(CASQ2):c.1015-251G>T	noncoding	Benign
1	115702912	G	A	G115702912A	VANGL1;CASQ2	NM_001232.4(CASQ2):c.1014+9C>T	noncoding	Benign/Likely_benign
1	115702930	A	G	A115702930G	CASQ2;VANGL1	NM_001232.4(CASQ2):c.1005T>C:p.Asn335=	coding	Benign/Likely_benign
1	115703034	G	C	G115703034C	CASQ2	NM_001232.3(CASQ2):c.940-39C>G	noncoding	Benign
1	115703055	C	A	C115703055A	CASQ2	NM_001232.3(CASQ2):c.940-60G>T	noncoding	Benign
1	115703188	C	T	C115703188T	CASQ2	NM_001232.3(CASQ2):c.940-193G>A	noncoding	Benign
1	115703278	T	C	T115703278C	CASQ2	NM_001232.3(CASQ2):c.940-283A>G	noncoding	Benign
1	115704914	G	C	G115704914C	CASQ2	NM_001232.3(CASQ2):c.939+278C>G	noncoding	Benign
1	115704936	C	A	C115704936A	CASQ2	NM_001232.3(CASQ2):c.939+256G>T	noncoding	Benign
1	115704936	C	G	C115704936G	CASQ2	NM_001232.3(CASQ2):c.939+256G>C	noncoding	Benign
1	115705060	C	A	C115705060A	CASQ2	NM_001232.3(CASQ2):c.939+132G>T	noncoding	Benign
1	115705169	G	A	G115705169A	CASQ2	NM_001232.3(CASQ2):c.939+23C>T	noncoding	Benign
1	115705191	C	A	C115705191A	CASQ2	NM_001232.3(CASQ2):c.939+1G>T	noncoding	Pathogenic
1	115705208	G	A	G115705208A	CASQ2	NM_001232.3(CASQ2):c.923C>T:p.Pro308Leu	coding	Pathogenic/Likely_pathogenic
1	115705212	C	G	C115705212G	CASQ2	NM_001232.3(CASQ2):c.919G>C:p.Asp307His	coding	Pathogenic
1	115705270	G	T	G115705270T	CASQ2	NM_001232.4(CASQ2):c.861C>A:p.Ile287=	coding	Benign/Likely_benign
1	115705275	C	A	C115705275A	CASQ2	NM_001232.3(CASQ2):c.856G>T:p.Glu286Ter	coding	Pathogenic
1	115717911	A	T	A115717911T	CASQ2	NM_001232.3(CASQ2):c.784-17T>A	noncoding	Benign
1	115717923	C	T	C115717923T	CASQ2	NM_001232.3(CASQ2):c.784-29G>A	noncoding	Benign
1	115717983	G	A	G115717983A	CASQ2	NM_001232.3(CASQ2):c.784-89C>T	noncoding	Benign
1	115725517	A	G	A115725517G	CASQ2	NM_001232.3(CASQ2):c.774T>C:p.Phe258=	coding	Benign/Likely_benign
1	115725662	C	T	C115725662T	CASQ2	NM_001232.3(CASQ2):c.738-109G>A	noncoding	Benign
1	115726710	C	A	C115726710A	CASQ2	NM_001232.3(CASQ2):c.737+282G>T	noncoding	Benign
1	115726996	G	A	G115726996A	CASQ2	NM_001232.4(CASQ2):c.733C>T:p.Gln245Ter	coding	Pathogenic
1	115726998	T	C	T115726998C	CASQ2	NM_001232.4(CASQ2):c.731A>G:p.His244Arg	coding	Benign/Likely_benign
1	115732900	C	G	C115732900G	CASQ2	NM_001232.3(CASQ2):c.606+1G>C	noncoding	Pathogenic
1	115732968	T	C	T115732968C	CASQ2	NM_001232.3(CASQ2):c.539A>G:p.Lys180Arg	coding	Pathogenic
1	115738256	A	T	A115738256T	CASQ2	NM_001232.3(CASQ2):c.500T>A:p.Leu167His	coding	Pathogenic
1	115738281	C	A	C115738281A	CASQ2	NM_001232.3(CASQ2):c.475G>T:p.Glu159Ter	coding	Pathogenic
1	115738290	G	A	G115738290A	CASQ2	NM_001232.4(CASQ2):c.466C>T:p.Gln156Ter	coding	Pathogenic
1	115738342	T	A	T115738342A	CASQ2	NM_001232.3(CASQ2):c.421-7A>T	noncoding	Benign/Likely_benign
1	115740508	A	G	A115740508G	CASQ2	NM_001232.3(CASQ2):c.420+220T>C	noncoding	Benign
1	115740722	A	G	A115740722G	CASQ2	NM_001232.4(CASQ2):c.420+6T>C	noncoding	Benign
1	115740846	G	A	G115740846A	CASQ2	NM_001232.3(CASQ2):c.320-18C>T	noncoding	Benign
1	115740905	G	A	G115740905A	CASQ2	NM_001232.3(CASQ2):c.320-77C>T	noncoding	Benign
1	115741004	A	G	A115741004G	CASQ2	NM_001232.3(CASQ2):c.320-176T>C	noncoding	Benign
1	115741078	A	G	A115741078G	CASQ2	NM_001232.3(CASQ2):c.320-250T>C	noncoding	Benign
1	115741126	T	C	T115741126C	CASQ2	NM_001232.3(CASQ2):c.320-298A>G	noncoding	Benign
1	115745061	T	C	T115745061C	CASQ2	NM_001232.3(CASQ2):c.235-149A>G	noncoding	Benign
1	115745213	G	A	G115745213A	CASQ2	NM_001232.3(CASQ2):c.235-301C>T	noncoding	Benign
1	115768197	G	C	G115768197C	CASQ2	NM_001232.3(CASQ2):c.234+111C>G	noncoding	Benign
1	115768306	A	G	A115768306G	CASQ2	NM_001232.3(CASQ2):c.234+2T>C	noncoding	Pathogenic
1	115768316	C	T	C115768316T	CASQ2	NM_001232.4(CASQ2):c.226G>A:p.Val76Met	coding	Benign/Likely_benign
1	115768346	T	C	T115768346C	CASQ2	NM_001232.4(CASQ2):c.196A>G:p.Thr66Ala	coding	Benign
1	115768445	G	A	G115768445A	CASQ2	NM_001232.3(CASQ2):c.97C>T:p.Arg33Ter	coding	Pathogenic/Likely_pathogenic
1	115768562	C	T	C115768562T	CASQ2	NM_001232.3(CASQ2):c.-21G>A	noncoding	Benign
1	115768678	A	G	A115768678G	CASQ2	NM_001232.3(CASQ2):c.-137T>C	noncoding	Benign
1	115768759	A	G	A115768759G	CASQ2	NM_001232.3(CASQ2):c.-218T>C	noncoding	Benign
1	115768921	T	C	T115768921C	CASQ2	NM_001232.3(CASQ2):c.-380A>G	noncoding	Benign
1	115769122	A	C	A115769122C	CASQ2	NM_001232.3(CASQ2):c.-581T>G	noncoding	Benign
1	115769128	C	T	C115769128T	CASQ2	NM_001232.3(CASQ2):c.-587G>A	noncoding	Benign
1	116384802	T	G	T116384802G	ATP1A1	NM_000701.8(ATP1A1):c.143T>G:p.Leu48Arg	coding	Pathogenic
1	116384846	T	C	T116384846C	ATP1A1	NM_000701.8(ATP1A1):c.183+4T>C	noncoding	Benign
1	116387415	T	G	T116387415G	ATP1A1	NM_000701.8(ATP1A1):c.311T>G:p.Leu104Arg	coding	Pathogenic
1	116389589	T	C	T116389589C	ATP1A1	NM_000701.8(ATP1A1):c.905T>C:p.Leu302Pro	coding	Pathogenic
1	116389591	G	C	G116389591C	ATP1A1	NM_000701.8(ATP1A1):c.907G>C:p.Gly303Arg	coding	Pathogenic
1	116389679	T	G	T116389679G	ATP1A1	NM_000701.8(ATP1A1):c.995T>G:p.Val332Gly	coding	Pathogenic
1	116395224	T	C	T116395224C	ATP1A1	NM_000701.8(ATP1A1):c.1775T>C:p.Ile592Thr	coding	Pathogenic
1	116395247	C	A	C116395247A	ATP1A1	NM_000701.8(ATP1A1):c.1798C>A:p.Pro600Thr	coding	Pathogenic
1	116395247	C	G	C116395247G	ATP1A1	NM_000701.8(ATP1A1):c.1798C>G:p.Pro600Ala	coding	Pathogenic
1	116397939	C	T	C116397939T	ATP1A1	NM_000701.8(ATP1A1):c.2025C>T:p.Ser675=	coding	Benign
1	116399068	A	C	A116399068C	ATP1A1	NM_000701.8(ATP1A1):c.2432A>C:p.Asp811Ala	coding	Pathogenic
1	116400864	T	G	T116400864G	ATP1A1	NM_000701.8(ATP1A1):c.2576T>G:p.Met859Arg	coding	Pathogenic
1	116401202	T	C	T116401202C	ATP1A1	NM_000701.8(ATP1A1):c.2791T>C:p.Trp931Arg	coding	Pathogenic
1	116579666	G	C	G116579666C	IGSF3	NM_001007237.3(IGSF3):c.3060C>G:p.Asp1020Glu	coding	Benign
1	116584795	C	T	C116584795T	IGSF3	NM_001007237.3(IGSF3):c.2698G>A:p.Val900Met	coding	Benign
1	116600246	C	T	C116600246T	IGSF3	NM_001007237.3(IGSF3):c.1724G>A:p.Trp575Ter	coding	Pathogenic
1	116608234	G	A	G116608234A	IGSF3	NM_001007237.3(IGSF3):c.930C>T:p.Pro310=	coding	Benign
1	116608296	G	T	G116608296T	IGSF3	NM_001007237.3(IGSF3):c.868C>A:p.Arg290=	coding	Benign
1	116768672	G	A	G116768672A	CD2	NM_001767.5(CD2):c.945G>A:p.Pro315=	coding	Benign
1	116941959	C	T	C116941959T	PTGFRN	NM_020440.4(PTGFRN):c.294C>T:p.Ala98=	coding	Benign
1	116944722	G	A	G116944722A	PTGFRN	NM_020440.4(PTGFRN):c.462G>A:p.Pro154=	coding	Benign
1	116961571	C	T	C116961571T	PTGFRN	NM_020440.4(PTGFRN):c.1542C>T:p.Tyr514=	coding	Benign
1	116984822	C	T	C116984822T	PTGFRN	NM_020440.4(PTGFRN):c.2310C>T:p.Arg770=	coding	Benign
1	117013649	T	C	T117013649C	CD101	NM_001256106.2(CD101):c.1085T>C:p.Leu362Pro	coding	Benign
1	117018408	G	A	G117018408A	CD101	NM_001256106.2(CD101):c.1865G>A:p.Arg622His	coding	Benign
1	117018494	T	G	T117018494G	CD101	NM_001256106.2(CD101):c.1951T>G:p.Tyr651Asp	coding	Benign
1	117025878	G	A	G117025878A	CD101	NM_001256106.2(CD101):c.2798G>A:p.Arg933Gln	coding	Benign
1	117025888	C	A	C117025888A	CD101	NM_001256106.2(CD101):c.2808C>A:p.Leu936=	coding	Benign
1	117033990	A	G	A117033990G	CD101	NM_001256106.2(CD101):c.2955A>G:p.Ser985=	coding	Benign
1	117034009	C	T	C117034009T	CD101	NM_001256106.2(CD101):c.2974C>T:p.Arg992Trp	coding	Benign
1	117060509	G	A	G117060509A	TTF2	NM_003594.4(TTF2):c.83G>A:p.Ser28Asn	coding	Benign
1	117074976	A	G	A117074976G	TTF2	NM_003594.4(TTF2):c.392A>G:p.Lys131Arg	coding	Benign
1	117075222	A	G	A117075222G	TTF2	NM_003594.4(TTF2):c.638A>G:p.Lys213Arg	coding	Benign
1	117075402	G	C	G117075402C	TTF2	NM_003594.4(TTF2):c.818G>C:p.Ser273Thr	coding	Benign
1	117075845	C	T	C117075845T	TTF2	NM_003594.4(TTF2):c.1261C>T:p.Leu421=	coding	Benign
1	117076678	G	A	G117076678A	TTF2	NM_003594.4(TTF2):c.1428G>A:p.Gln476=	coding	Benign
1	117076733	C	T	C117076733T	TTF2	NM_003594.4(TTF2):c.1483C>T:p.Leu495Phe	coding	Benign
1	117076740	G	A	G117076740A	TTF2	NM_003594.4(TTF2):c.1490G>A:p.Arg497His	coding	Benign
1	117091878	C	T	C117091878T	TTF2	NM_003594.4(TTF2):c.2733C>T:p.Ser911=	coding	Benign
1	117091885	G	A	G117091885A	TTF2	NM_003594.4(TTF2):c.2740G>A:p.Val914Ile	coding	Benign
1	117092778	G	A	G117092778A	TTF2	NM_003594.4(TTF2):c.2853G>A:p.Leu951=	coding	Benign
1	117092779	G	A	G117092779A	TTF2	NM_003594.4(TTF2):c.2854G>A:p.Glu952Lys	coding	Benign
1	117092885	T	C	T117092885C	TTF2	NM_003594.4(TTF2):c.2960T>C:p.Met987Thr	coding	Benign
1	117466336	T	G	T117466336G	MAN1A2	NM_006699.5(MAN1A2):c.1077T>G:p.Val359=	coding	Benign
1	117896840	G	A	G117896840A	GDAP2	NM_017686.4(GDAP2):c.946C>T:p.Gln316Ter	coding	Pathogenic
1	117972054	A	G	A117972054G	SPAG17	NM_206996.4(SPAG17):c.6142-7T>C	noncoding	Benign
1	117973558	G	C	G117973558C	SPAG17	NM_206996.4(SPAG17):c.6008C>G:p.Ala2003Gly	coding	Benign
1	117996588	A	G	A117996588G	SPAG17	NM_206996.4(SPAG17):c.4922+10T>C	noncoding	Benign
1	118031851	A	G	A118031851G	SPAG17	NM_206996.4(SPAG17):c.3450T>C:p.Asp1150=	coding	Benign
1	118039434	A	G	A118039434G	SPAG17	NM_206996.4(SPAG17):c.3177T>C:p.Phe1059=	coding	Benign
1	118055739	A	G	A118055739G	SPAG17	NM_206996.4(SPAG17):c.2716T>C:p.Ser906Pro	coding	Benign
1	118086000	G	C	G118086000C	SPAG17	NM_206996.4(SPAG17):c.1684C>G:p.Gln562Glu	coding	Benign
1	118115327	G	A	G118115327A	SPAG17	NM_206996.4(SPAG17):c.430C>T:p.Arg144Trp	coding	Benign
1	118884844	A	C	A118884844C	TBX15	NM_001330677.2(TBX15):c.1697T>G:p.Met566Arg	coding	Benign
1	118885064	G	C	G118885064C	TBX15	NM_001330677.2(TBX15):c.1477C>G:p.Pro493Ala	coding	Benign
1	118885314	G	A	G118885314A	TBX15	NM_001330677.2(TBX15):c.1227C>T:p.Ala409=	coding	Benign
1	118885520	A	G	A118885520G	TBX15	NM_001330677.2(TBX15):c.1025-4T>C	noncoding	Benign
1	118923460	T	C	T118923460C	TBX15	NM_001330677.2(TBX15):c.837A>G:p.Thr279=	coding	Benign/Likely_benign
1	118924817	T	C	T118924817C	TBX15	NM_001330677.2(TBX15):c.522A>G:p.Arg174=	coding	Benign
1	118926512	G	A	G118926512A	TBX15	NM_001330677.2(TBX15):c.519C>T:p.Tyr173=	coding	Benign
1	119032915	A	G	A119032915G	WARS2	NM_015836.3(WARS2):c.1079T>C:p.Leu360Pro	coding	Benign
1	119033064	C	T	C119033064T	WARS2	NM_015836.3(WARS2):c.930G>A:p.Val310=	coding	Benign
1	119033310	C	T	C119033310T	WARS2	NM_015836.3(WARS2):c.684G>A:p.Ser228=	coding	Benign
1	119034107	C	A	C119034107A	WARS2	NM_015836.4(WARS2):c.622G>T:p.Glu208Ter	coding	Pathogenic
1	119034197	C	G	C119034197G	WARS2	NM_015836.3(WARS2):c.532G>C:p.Val178Leu	coding	Pathogenic
1	119042296	T	C	T119042296C	WARS2	NM_015836.3(WARS2):c.483A>G:p.Pro161=	coding	Benign
1	119076551	C	G	C119076551G	WARS2	NM_015836.3(WARS2):c.147G>C:p.Leu49=	coding	Benign
1	119076564	C	A	C119076564A	WARS2	NM_015836.3(WARS2):c.134G>T:p.Gly45Val	coding	Pathogenic
1	119415428	G	A	G119415428A	HSD3B2	NM_000198.4(HSD3B2):c.9G>A:p.Trp3Ter	coding	Pathogenic
1	119415448	C	A	C119415448A	HSD3B2	NM_000198.4(HSD3B2):c.29C>A:p.Ala10Glu	coding	Pathogenic
1	119419411	C	T	C119419411T	HSD3B2	NM_000198.4(HSD3B2):c.143-7C>T	noncoding	Benign
1	119419495	G	A	G119419495A	HSD3B2	NM_000198.4(HSD3B2):c.220G>A:p.Asp74Asn	coding	Benign
1	119421925	G	A	G119421925A	HSD3B2	NM_000198.4(HSD3B2):c.424G>A:p.Glu142Lys	coding	Pathogenic
1	119421963	C	A	C119421963A	HSD3B2	NM_000198.4(HSD3B2):c.462C>A:p.Tyr154Ter	coding	Pathogenic
1	119422013	G	A	G119422013A	HSD3B2	NM_000198.4(HSD3B2):c.512G>A:p.Trp171Ter	coding	Pathogenic
1	119422019	T	G	T119422019G	HSD3B2	NM_000198.4(HSD3B2):c.518T>G:p.Leu173Arg	coding	Pathogenic
1	119422165	C	A	C119422165A	HSD3B2	NM_000198.4(HSD3B2):c.664C>A:p.Pro222Thr	coding	Pathogenic
1	119422182	C	T	C119422182T	HSD3B2	NM_000198.4(HSD3B2):c.681C>T:p.Asn227=	coding	Benign
1	119422246	C	T	C119422246T	HSD3B2	NM_000198.4(HSD3B2):c.745C>T:p.Arg249Ter	coding	Pathogenic
1	119422277	C	T	C119422277T	HSD3B2	NM_000198.4(HSD3B2):c.776C>T:p.Thr259Met	coding	Pathogenic
1	119422278	G	A	G119422278A	HSD3B2	NM_000198.4(HSD3B2):c.777G>A:p.Thr259=	coding	Benign
1	119422501	C	T	C119422501T	HSD3B2	NM_000198.4(HSD3B2):c.1000C>T:p.Gln334Ter	coding	Pathogenic
1	119422504	C	T	C119422504T	HSD3B2	NM_000198.4(HSD3B2):c.1003C>T:p.Arg335Ter	coding	Pathogenic
1	119422523	C	T	C119422523T	HSD3B2	NM_000198.4(HSD3B2):c.1022C>T:p.Pro341Leu	coding	Pathogenic
1	119422620	A	C	A119422620C	HSD3B2	NM_000198.4(HSD3B2):c.1119A>C:p.Ter373Cys	coding	Pathogenic
1	119422716	C	G	C119422716G	HSD3B2	NM_000198.4(HSD3B2):c.*96C>G	noncoding	Benign
1	119422822	A	G	A119422822G	HSD3B2	NM_000198.4(HSD3B2):c.*202A>G	noncoding	Benign
1	119422896	C	T	C119422896T	HSD3B2	NM_000198.4(HSD3B2):c.*276C>T	noncoding	Benign
1	119422941	C	G	C119422941G	HSD3B2	NM_000198.4(HSD3B2):c.*321C>G	noncoding	Benign
1	119711883	A	G	A119711883G	PHGDH	NM_006623.3(PHGDH):c.-140A>G	noncoding	Benign
1	119711922	G	C	G119711922C	PHGDH	NM_006623.3(PHGDH):c.-101G>C	noncoding	Benign
1	119721157	T	C	T119721157C	PHGDH	NM_006623.4(PHGDH):c.139-13T>C	noncoding	Benign
1	119721323	T	C	T119721323C	PHGDH	NM_006623.4(PHGDH):c.290+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	119723403	C	T	C119723403T	PHGDH	NM_006623.4(PHGDH):c.318C>T:p.Ala106=	coding	Benign
1	119727010	G	A	G119727010A	PHGDH	NM_006623.4(PHGDH):c.418G>A:p.Gly140Arg	coding	Pathogenic/Likely_pathogenic
1	119727108	A	G	A119727108G	PHGDH	NM_006623.4(PHGDH):c.510+6A>G	noncoding	Benign/Likely_benign
1	119734718	C	G	C119734718G	PHGDH	NM_006623.4(PHGDH):c.595C>G:p.Leu199Val	coding	Benign
1	119734747	T	C	T119734747C	PHGDH	NM_006623.4(PHGDH):c.624T>C:p.Pro208=	coding	Benign
1	119735449	T	G	T119735449G	PHGDH	NM_006623.4(PHGDH):c.792+6T>G	noncoding	Benign
1	119737114	G	A	G119737114A	PHGDH	NM_006623.4(PHGDH):c.793G>A:p.Glu265Lys	coding	Pathogenic
1	119737177	G	C	G119737177C	PHGDH	NM_006623.4(PHGDH):c.856G>C:p.Ala286Pro	coding	Pathogenic
1	119740425	A	T	A119740425T	PHGDH	NM_006623.4(PHGDH):c.985A>T:p.Thr329Ser	coding	Benign
1	119740470	C	T	C119740470T	PHGDH	NM_006623.4(PHGDH):c.1030C>T:p.Arg344Ter	coding	Pathogenic
1	119741804	C	T	C119741804T	PHGDH	NM_006623.4(PHGDH):c.1116C>T:p.Pro372=	coding	Benign
1	119741817	G	A	G119741817A	PHGDH	NM_006623.4(PHGDH):c.1129G>A:p.Gly377Ser	coding	Pathogenic
1	119741846	G	T	G119741846T	PHGDH	NM_006623.4(PHGDH):c.1158G>T:p.Ala386=	coding	Benign
1	119742870	G	A	G119742870A	PHGDH	NM_006623.4(PHGDH):c.1273G>A:p.Val425Met	coding	Pathogenic
1	119742883	G	T	G119742883T	PHGDH	NM_006623.4(PHGDH):c.1286G>T:p.Gly429Val	coding	Pathogenic
1	119742923	G	A	G119742923A	PHGDH	NM_006623.4(PHGDH):c.1326G>A:p.Thr442=	coding	Benign
1	119743906	G	A	G119743906A	PHGDH	NM_006623.4(PHGDH):c.1468G>A:p.Val490Met	coding	Pathogenic
1	119748025	C	T	C119748025T	HMGCS2	NM_005518.4(HMGCS2):c.*822G>A	noncoding	Benign
1	119748055	C	T	C119748055T	HMGCS2	NM_005518.4(HMGCS2):c.*792G>A	noncoding	Benign
1	119748835	T	G	T119748835G	HMGCS2	NM_005518.4(HMGCS2):c.*12A>C	noncoding	Benign
1	119748857	A	G	A119748857G	HMGCS2	NM_005518.4(HMGCS2):c.*6-16T>C	noncoding	Benign
1	119750849	G	A	G119750849A	HMGCS2	NM_005518.4(HMGCS2):c.1480C>T:p.Arg494Ter	coding	Pathogenic
1	119751125	T	G	T119751125G	HMGCS2	NM_001166107.1(HMGCS2):c.1295-217A>C	noncoding	Benign
1	119752550	C	T	C119752550T	HMGCS2	NM_001166107.1(HMGCS2):c.1293G>A:p.Lys431=	coding	Benign
1	119755452	C	T	C119755452T	HMGCS2	NM_001166107.1(HMGCS2):c.1036G>A:p.Gly346Arg	coding	Pathogenic
1	119755490	G	C	G119755490C	HMGCS2	NM_001166107.1(HMGCS2):c.998C>G:p.Ser333Cys	coding	Benign/Likely_benign
1	119757427	G	A	G119757427A	HMGCS2	NM_001166107.1(HMGCS2):c.736C>T:p.Arg246Ter	coding	Pathogenic
1	119757427	G	T	G119757427T	HMGCS2	NM_001166107.1(HMGCS2):c.736C>A:p.Arg246=	coding	Benign/Likely_benign
1	119757431	G	A	G119757431A	HMGCS2	NM_001166107.1(HMGCS2):c.732C>T:p.Ser244=	coding	Benign/Likely_benign
1	119758809	A	G	A119758809G	HMGCS2	NM_001166107.1(HMGCS2):c.724+309T>C	noncoding	Benign
1	119759116	A	G	A119759116G	HMGCS2	NM_001166107.1(HMGCS2):c.724+2T>C	noncoding	Pathogenic
1	119759796	A	G	A119759796G	HMGCS2	NM_001166107.1(HMGCS2):c.560-514T>C	noncoding	Benign
1	119759915	C	T	C119759915T	HMGCS2	NM_001166107.1(HMGCS2):c.560-633G>A	coding	Pathogenic/Likely_pathogenic
1	119764231	T	C	T119764231C	HMGCS2	NM_001166107.1(HMGCS2):c.500A>G:p.Tyr167Cys	coding	Pathogenic
1	119764461	C	T	C119764461T	HMGCS2	NM_001166107.1(HMGCS2):c.270G>A:p.Gln90=	coding	Benign/Likely_benign
1	119764571	C	T	C119764571T	HMGCS2	NM_001166107.1(HMGCS2):c.160G>A:p.Val54Met	coding	Pathogenic
1	119764892	C	G	C119764892G	HMGCS2	NM_001166107.1(HMGCS2):c.105-266G>C	noncoding	Benign
1	119768855	G	A	G119768855A	HMGCS2	NM_001166107.1(HMGCS2):c.-11C>T	noncoding	Benign
1	119798503	T	G	T119798503G	REG4	NM_032044.4(REG4):c.403A>C:p.Asn135His	coding	Benign
1	119836034	G	A	G119836034A	NBPF7	NM_001047980.2(NBPF7):c.1089C>T:p.Ser363=	coding	Benign
1	119841539	G	A	G119841539A	NBPF7	NM_001047980.2(NBPF7):c.400C>T:p.Arg134Trp	coding	Benign
1	119915381	A	T	A119915381T	NOTCH2	NM_024408.4(NOTCH2):c.7341T>A:p.Gly2447=	coding	Benign
1	119915524	G	A	G119915524A	NOTCH2	NM_024408.4(NOTCH2):c.7198C>T:p.Arg2400Ter	coding	Pathogenic
1	119915557	G	A	G119915557A	NOTCH2	NM_024408.4(NOTCH2):c.7165C>T:p.Gln2389Ter	coding	Pathogenic
1	119915603	A	C	A119915603C	NOTCH2	NM_024408.4(NOTCH2):c.7119T>G:p.Tyr2373Ter	coding	Pathogenic
1	119915644	G	A	G119915644A	NOTCH2	NM_024408.4(NOTCH2):c.7078C>T:p.Gln2360Ter	coding	Pathogenic
1	119915647	G	C	G119915647C	NOTCH2	NM_024408.4(NOTCH2):c.7075C>G:p.Pro2359Ala	coding	Benign
1	119915680	A	G	A119915680G	NOTCH2	NM_024408.4(NOTCH2):c.7042T>C:p.Leu2348=	coding	Benign
1	119915773	G	A	G119915773A	NOTCH2	NM_024408.4(NOTCH2):c.6949C>T:p.Gln2317Ter	coding	Pathogenic
1	119915798	C	T	C119915798T	NOTCH2	NM_024408.4(NOTCH2):c.6924G>A:p.Gln2308=	coding	Benign
1	119915827	C	A	C119915827A	NOTCH2	NM_024408.4(NOTCH2):c.6895G>T:p.Glu2299Ter	coding	Pathogenic
1	119915869	G	A	G119915869A	NOTCH2	NM_024408.4(NOTCH2):c.6853C>T:p.Gln2285Ter	coding	Pathogenic/Likely_pathogenic
1	119915935	G	A	G119915935A	NOTCH2	NM_024408.4(NOTCH2):c.6787C>T:p.Gln2263Ter	coding	Pathogenic
1	119915964	C	T	C119915964T	NOTCH2	NM_024408.4(NOTCH2):c.6758G>A:p.Trp2253Ter	coding	Pathogenic
1	119916063	G	C	G119916063C	NOTCH2	NM_024408.4(NOTCH2):c.6659C>G:p.Ser2220Ter	coding	Pathogenic
1	119916100	G	A	G119916100A	NOTCH2	NM_024408.4(NOTCH2):c.6622C>T:p.Gln2208Ter	coding	Pathogenic
1	119916243	T	C	T119916243C	NOTCH2	NM_024408.4(NOTCH2):c.6479A>G:p.Tyr2160Cys	coding	Benign
1	119916301	G	A	G119916301A	NOTCH2	NM_024408.4(NOTCH2):c.6421C>T:p.Leu2141=	coding	Benign
1	119916499	C	T	C119916499T	NOTCH2	NM_024408.4(NOTCH2):c.6223G>A:p.Val2075Met	coding	Benign/Likely_benign
1	119916628	G	T	G119916628T	NOTCH2	NM_024408.4(NOTCH2):c.6094C>A:p.His2032Asn	coding	Benign/Likely_benign
1	119917685	G	A	G119917685A	NOTCH2	NM_024408.4(NOTCH2):c.6007C>T:p.Arg2003Ter	coding	Pathogenic
1	119917763	C	T	C119917763T	NOTCH2	NM_024408.4(NOTCH2):c.5930-1G>A	coding	Pathogenic
1	119919449	G	A	G119919449A	NOTCH2	NM_024408.4(NOTCH2):c.5644C>T:p.His1882Tyr	coding	Pathogenic
1	119921749	C	T	C119921749T	NOTCH2	NM_024408.4(NOTCH2):c.5274G>A:p.Trp1758Ter	coding	Pathogenic
1	119921801	G	A	G119921801A	NOTCH2	NM_024408.4(NOTCH2):c.5222C>T:p.Ser1741Leu	coding	Pathogenic
1	119922384	T	A	T119922384A	NOTCH2	NM_024408.4(NOTCH2):c.5065A>T:p.Ile1689Phe	coding	Benign
1	119925505	G	A	G119925505A	NOTCH2	NM_024408.4(NOTCH2):c.4311C>T:p.Gly1437=	coding	Benign
1	119925511	C	T	C119925511T	NOTCH2	NM_024408.4(NOTCH2):c.4305G>A:p.Arg1435=	coding	Benign
1	119925578	A	T	A119925578T	NOTCH2	NM_024408.4(NOTCH2):c.4238T>A:p.Leu1413His	coding	Benign/Likely_benign
1	119925642	G	A	G119925642A	NOTCH2	NM_024408.4(NOTCH2):c.4174C>T:p.Gln1392Ter	coding	Pathogenic
1	119925802	G	A	G119925802A	NOTCH2	NM_024408.4(NOTCH2):c.4014C>T:p.Ser1338=	coding	Benign
1	119926498	C	T	C119926498T	NOTCH2	NM_024408.4(NOTCH2):c.4005+1G>A	noncoding	Pathogenic
1	119926524	T	C	T119926524C	NOTCH2	NM_024408.4(NOTCH2):c.3980A>G:p.Asp1327Gly	coding	Benign
1	119929089	C	T	C119929089T	NOTCH2	NM_024408.4(NOTCH2):c.3779G>A:p.Arg1260His	coding	Benign
1	119929116	C	T	C119929116T	NOTCH2	NM_024408.4(NOTCH2):c.3752G>A:p.Arg1251His	coding	Benign
1	119935502	A	C	A119935502C	NOTCH2	NM_024408.4(NOTCH2):c.3625T>G:p.Phe1209Val	coding	Benign/Likely_benign
1	119937285	G	A	G119937285A	NOTCH2	NM_024408.4(NOTCH2):c.3519C>T:p.Cys1173=	coding	Benign
1	119937325	T	C	T119937325C	NOTCH2	NM_024408.4(NOTCH2):c.3479A>G:p.His1160Arg	coding	Benign
1	119937363	C	T	C119937363T	NOTCH2	NM_024408.4(NOTCH2):c.3441G>A:p.Glu1147=	coding	Benign/Likely_benign
1	119937960	G	A	G119937960A	NOTCH2	NM_024408.4(NOTCH2):c.3234C>T:p.Cys1078=	coding	Benign
1	119940621	C	T	C119940621T	NOTCH2	NM_024408.4(NOTCH2):c.3117G>A:p.Thr1039=	coding	Benign
1	119940704	A	G	A119940704G	NOTCH2	NM_024408.4(NOTCH2):c.3034T>C:p.Leu1012=	coding	Benign
1	119948995	C	G	C119948995G	NOTCH2	NM_024408.4(NOTCH2):c.2599+12G>C	noncoding	Benign
1	119949021	G	A	G119949021A	NOTCH2	NM_024408.4(NOTCH2):c.2585C>T:p.Ala862Val	coding	Benign
1	119955217	A	T	A119955217T	NOTCH2	NM_024408.4(NOTCH2):c.2042T>A:p.Ile681Asn	coding	Benign
1	119959386	C	A	C119959386A	NOTCH2	NM_024408.4(NOTCH2):c.2026+6G>T	noncoding	Benign
1	119967490	G	T	G119967490T	NOTCH2	NM_024408.4(NOTCH2):c.1396C>A:p.Gln466Lys	coding	Benign
1	119967555	C	T	C119967555T	NOTCH2	NM_024408.4(NOTCH2):c.1331G>A:p.Cys444Tyr	coding	Pathogenic
1	119967571	C	T	C119967571T	NOTCH2	NM_024408.4(NOTCH2):c.1315G>A:p.Ala439Thr	coding	Benign
1	119969680	G	A	G119969680A	NOTCH2	NM_024408.4(NOTCH2):c.939C>T:p.Gly313=	coding	Benign
1	120029924	T	C	T120029924C	NOTCH2	NM_024408.4(NOTCH2):c.137A>G:p.Asn46Ser	coding	Benign
1	120069350	G	C	G120069350C	NOTCH2	NM_024408.4(NOTCH2):c.57C>G:p.Cys19Trp	coding	Benign
1	120069400	C	A	C120069400A	NOTCH2	NM_024408.4(NOTCH2):c.7G>T:p.Ala3Ser	coding	Benign
1	145682585	C	T	C145682585T	PDZK1	NM_001201325.2(PDZK1):c.512G>A:p.Arg171Lys	coding	Benign
1	145730920	G	A	G145730920A	CD160	NM_007053.4(CD160):c.250G>A:p.Gly84Arg	coding	Benign
1	145849550	T	G	T145849550G	PIAS3	NM_006099.3(PIAS3):c.1783A>C:p.Ser595Arg	coding	Benign
1	145856094	A	G	A145856094G	PIAS3	NM_006099.3(PIAS3):c.552T>C:p.Cys184=	coding	Benign
1	145912346	G	A	G145912346A	PEX11B	NM_003846.3(PEX11B):c.595C>T:p.Arg199Ter	coding	Pathogenic
1	145912483	C	T	C145912483T	PEX11B	NM_003846.3(PEX11B):c.458G>A:p.Cys153Tyr	coding	Benign/Likely_benign
1	145916914	G	A	G145916914A	PEX11B	NM_003846.3(PEX11B):c.277C>T:p.Arg93Ter	coding	Pathogenic/Likely_pathogenic
1	145917809	G	A	G145917809A	PEX11B	NM_003846.3(PEX11B):c.64C>T:p.Gln22Ter	coding	Pathogenic
1	145925920	G	A	G145925920A	RBM8A	NM_005105.4(RBM8A):c.487C>T:p.Arg163Ter	coding	Pathogenic
1	145926506	G	A	G145926506A	RBM8A	NM_005105.4(RBM8A):c.318C>T:p.Leu106=	coding	Benign/Likely_benign
1	145926584	G	A	G145926584A	RBM8A	NM_005105.4(RBM8A):c.240C>T:p.Val80=	coding	Benign/Likely_benign
1	145926631	G	T	G145926631T	RBM8A	NM_005105.5(RBM8A):c.206-13C>A	noncoding	Pathogenic
1	145926895	G	A	G145926895A	RBM8A	NM_005105.5(RBM8A):c.128-9C>T	noncoding	Benign
1	145926947	G	T	G145926947T	RBM8A	NM_005105.4(RBM8A):c.128-61C>A	noncoding	Benign
1	145927083	A	G	A145927083G	RBM8A	NM_005105.5(RBM8A):c.68-6T>C	noncoding	Benign
1	145927267	T	A	T145927267A	RBM8A	NM_005105.5(RBM8A):c.67+93A>T	noncoding	Benign
1	145927328	C	G	C145927328G	RBM8A	NM_005105.5(RBM8A):c.67+32G>C	noncoding	Pathogenic
1	145927445	C	A	C145927445A	RBM8A	NM_005105.5(RBM8A):c.-19G>T	noncoding	Pathogenic
1	145994078	C	T	C145994078T	TXNIP	NM_006472.6(TXNIP):c.1078G>A:p.Asp360Asn	coding	Benign
1	145994128	C	T	C145994128T	TXNIP	NM_006472.6(TXNIP):c.1028G>A:p.Arg343Gln	coding	Benign
1	145994148	A	G	A145994148G	TXNIP	NM_006472.6(TXNIP):c.1008T>C:p.Asp336=	coding	Benign
1	145994685	C	A	C145994685A	TXNIP	NM_006472.6(TXNIP):c.690G>T:p.Leu230=	coding	Benign
1	146018261	A	T	A146018261T	HJV	NM_213653.4(HJV):c.1097T>A:p.Leu366Ter	coding	Pathogenic
1	146018352	C	A	C146018352A	HJV	NM_213653.3(HJV):c.1006G>T:p.Gly336Ter	coding	Pathogenic
1	146018373	G	A	G146018373A	HJV	NM_213653.4(HJV):c.985C>T:p.Arg329Ter	coding	Pathogenic
1	146018395	G	T	G146018395T	HJV	NM_145277.5(HJV):c.624C>A:p.Cys208Ter	coding	Pathogenic
1	146018399	C	A	C146018399A	HJV	NM_213653.3(HJV):c.959G>T:p.Gly320Val	coding	Pathogenic
1	146018429	G	C	G146018429C	HJV	NM_213653.3(HJV):c.929C>G:p.Ala310Gly	coding	Benign/Likely_benign
1	146018516	A	G	A146018516G	HJV	NM_145277.5(HJV):c.503T>C:p.Ile168Thr	coding	Pathogenic
1	146018529	G	A	G146018529A	HJV	NM_213653.4(HJV):c.829C>T:p.Gln277Ter	coding	Pathogenic
1	146018530	G	T	G146018530T	HJV	NM_213653.3(HJV):c.828C>A:p.Ile276=	coding	Benign
1	146019594	A	G	A146019594G	HJV	NM_145277.5(HJV):c.-102T>C	coding	Pathogenic
1	146019672	T	A	T146019672A	HJV	NM_145277.5(HJV):c.-180A>T	coding	Pathogenic
1	146019740	G	C	G146019740C	HJV	NM_213653.3(HJV):c.98-6C>G	noncoding	Benign
1	146020223	C	G	C146020223G	HJV	NM_213653.3(HJV):c.9G>C:p.Glu3Asp	coding	Benign
1	146021699	C	T	C146021699T	HJV	NM_213653.4(HJV):c.-202G>A	noncoding	Benign
1	147201163	T	C	T147201163C	FMO5	NM_001461.4(FMO5):c.1172A>G:p.Gln391Arg	coding	Benign
1	147201336	G	A	G147201336A	FMO5	NM_001461.4(FMO5):c.999C>T:p.Ser333=	coding	Benign
1	147212527	T	C	T147212527C	FMO5	NM_001461.4(FMO5):c.496A>G:p.Lys166Glu	coding	Benign
1	147264451	C	T	C147264451T	CHD1L	NM_004284.6(CHD1L):c.606C>T:p.Thr202=	coding	Benign
1	147264517	C	G	C147264517G	CHD1L	NM_004284.6(CHD1L):c.672C>G:p.Leu224=	coding	Benign
1	147280109	C	A	C147280109A	CHD1L	NM_004284.6(CHD1L):c.1623C>A:p.Ile541=	coding	Benign
1	147285415	A	C	A147285415C	CHD1L	NM_004284.6(CHD1L):c.1946A>C:p.Glu649Ala	coding	Benign
1	147285455	G	A	G147285455A	CHD1L	NM_004284.6(CHD1L):c.1986G>A:p.Lys662=	coding	Benign
1	147287690	C	T	C147287690T	CHD1L	NM_004284.6(CHD1L):c.2277C>T:p.Ser759=	coding	Benign
1	147291489	T	A	T147291489A	CHD1L	NM_004284.6(CHD1L):c.2328T>A:p.Ser776Arg	coding	Benign
1	147295468	T	G	T147295468G	CHD1L	NM_004284.6(CHD1L):c.2653T>G:p.Ser885Ala	coding	Benign
1	147618808	G	T	G147618808T	BCL9	NM_004326.4(BCL9):c.661-8G>T	noncoding	Benign
1	147619610	G	A	G147619610A	BCL9	NM_004326.4(BCL9):c.1455G>A:p.Arg485=	coding	Benign
1	147647506	T	C	T147647506C	ACP6	NM_016361.5(ACP6):c.1204A>G:p.Met402Val	coding	Benign
1	147654302	T	C	T147654302C	ACP6	NM_016361.5(ACP6):c.672A>G:p.Leu224=	coding	Benign
1	147654322	G	A	G147654322A	ACP6	NM_016361.5(ACP6):c.652C>T:p.Arg218Trp	coding	Benign
1	147758513	C	T	C147758513T	GJA5	NM_181703.4(GJA5):c.726G>A:p.Arg242=	coding	Benign
1	147758554	G	T	G147758554T	GJA5	NM_181703.4(GJA5):c.685C>A:p.Leu229Met	coding	Pathogenic
1	147758578	G	T	G147758578T	GJA5	NM_181703.4(GJA5):c.661C>A:p.Leu221Ile	coding	Pathogenic
1	147758870	G	A	G147758870A	GJA5	NM_181703.4(GJA5):c.369C>T:p.Tyr123=	coding	Benign/Likely_benign
1	147758977	G	A	G147758977A	GJA5	NM_181703.4(GJA5):c.262C>T:p.Pro88Ser	coding	Pathogenic
1	147758986	C	T	C147758986T	GJA5	NM_181703.4(GJA5):c.253G>A:p.Val85Ile	coding	Pathogenic
1	147759016	T	A	T147759016A	GJA5	NM_181703.4(GJA5):c.223A>T:p.Ile75Phe	coding	Pathogenic
1	147759094	G	A	G147759094A	GJA5	NM_181703.4(GJA5):c.145C>T:p.Gln49Ter	coding	Pathogenic
1	147908023	G	C	G147908023C	GJA8	NM_005267.5(GJA8):c.68G>C:p.Arg23Thr	coding	Pathogenic
1	147908028	T	C	T147908028C	GJA8	NM_005267.5(GJA8):c.73T>C:p.Trp25Arg	coding	Pathogenic
1	147908086	T	A	T147908086A	GJA8	NM_005267.5(GJA8):c.131T>A:p.Val44Glu	coding	Pathogenic
1	147908089	G	C	G147908089C	GJA8	NM_005267.5(GJA8):c.134G>C:p.Trp45Ser	coding	Pathogenic
1	147908089	G	T	G147908089T	GJA8	NM_005267.5(GJA8):c.134G>T:p.Trp45Leu	coding	Pathogenic
1	147908094	G	A	G147908094A	GJA8	NM_005267.5(GJA8):c.139G>A:p.Asp47Asn	coding	Pathogenic
1	147908094	G	C	G147908094C	GJA8	NM_005267.5(GJA8):c.139G>C:p.Asp47His	coding	Pathogenic
1	147908097	G	A	G147908097A	GJA8	NM_005267.5(GJA8):c.142G>A:p.Glu48Lys	coding	Pathogenic
1	147908108	C	G	C147908108G	GJA8	NM_005267.5(GJA8):c.153C>G:p.Asp51Glu	coding	Pathogenic
1	147908217	C	G	C147908217G	GJA8	NM_005267.5(GJA8):c.262C>G:p.Pro88Ala	coding	Pathogenic
1	147908217	C	T	C147908217T	GJA8	NM_005267.5(GJA8):c.262C>T:p.Pro88Ser	coding	Pathogenic
1	147908311	G	A	G147908311A	GJA8	NM_005267.5(GJA8):c.356G>A:p.Gly119Glu	coding	Benign
1	147908394	C	T	C147908394T	GJA8	NM_005267.5(GJA8):c.439C>T:p.Leu147=	coding	Benign
1	147908439	G	A	G147908439A	GJA8	NM_005267.5(GJA8):c.484G>A:p.Glu162Lys	coding	Pathogenic
1	147908521	C	T	C147908521T	GJA8	NM_005267.5(GJA8):c.566C>T:p.Pro189Leu	coding	Pathogenic
1	147908548	G	A	G147908548A	GJA8	NM_005267.5(GJA8):c.593G>A:p.Arg198Gln	coding	Pathogenic
1	147908557	A	G	A147908557G	GJA8	NM_005267.5(GJA8):c.602A>G:p.Glu201Gly	coding	Pathogenic
1	147908696	T	G	T147908696G	GJA8	NM_005267.5(GJA8):c.741T>G:p.Ile247Met	coding	Benign/Likely_benign
1	147908759	C	T	C147908759T	GJA8	NM_005267.5(GJA8):c.804C>T:p.Leu268=	coding	Benign
1	147908782	C	T	C147908782T	GJA8	NM_005267.5(GJA8):c.827C>T:p.Ser276Phe	coding	Pathogenic
1	147908784	C	T	C147908784T	GJA8	NM_005267.5(GJA8):c.829C>T:p.His277Tyr	coding	Pathogenic
1	147908848	A	G	A147908848G	GJA8	NM_005267.5(GJA8):c.893A>G:p.Asn298Ser	coding	Benign/Likely_benign
1	147909000	A	G	A147909000G	GJA8	NM_005267.5(GJA8):c.1045A>G:p.Lys349Glu	coding	Benign
1	147909057	G	C	G147909057C	GJA8	NM_005267.5(GJA8):c.1102G>C:p.Glu368Gln	coding	Benign/Likely_benign
1	147909059	G	A	G147909059A	GJA8	NM_005267.5(GJA8):c.1104G>A:p.Glu368=	coding	Benign
1	147909060	G	T	G147909060T	GJA8	NM_005267.5(GJA8):c.1105G>T:p.Gly369Trp	coding	Benign
1	147909112	C	T	C147909112T	GJA8	NM_005267.5(GJA8):c.1157C>T:p.Pro386Leu	coding	Benign
1	147909203	G	T	G147909203T	GJA8	NM_005267.5(GJA8):c.1248G>T:p.Leu416=	coding	Benign
1	148953028	T	A	T148953028A	PDE4DIP	NM_001002811.2(PDE4DIP):c.248T>A:p.Leu83Gln	coding	Benign
1	148953402	A	G	A148953402G	PDE4DIP	NM_001002811.2(PDE4DIP):c.622A>G:p.Thr208Ala	coding	Benign
1	148961952	G	A	G148961952A	PDE4DIP	NM_001002811.2(PDE4DIP):c.1373G>A:p.Arg458His	coding	Benign
1	149032053	G	A	G149032053A	PDE4DIP	NM_014644.5(PDE4DIP):c.*68G>A	coding	Benign
1	149784224	C	T	C149784224T	FCGR1A	NM_001161334.1(H2BC18):c.378-964G>A	coding	Pathogenic
1	149813484	C	T	C149813484T	H3C13	NM_001123375.3(H3C13):c.198G>A:p.Leu66=	coding	Benign
1	149813508	A	G	A149813508G	H3C13	NM_001123375.3(H3C13):c.174T>C:p.Ser58=	coding	Benign
1	149905122	G	A	G149905122A	SV2A	NM_014849.5(SV2A):c.2121C>T:p.Phe707=	coding	Benign
1	149905134	G	A	G149905134A	SV2A	NM_014849.5(SV2A):c.2109C>T:p.Ile703=	coding	Benign
1	149906777	G	A	G149906777A	SV2A	NM_014849.5(SV2A):c.1758C>T:p.Asp586=	coding	Benign
1	149909233	G	A	G149909233A	SV2A	NM_014849.5(SV2A):c.1338C>T:p.Ile446=	coding	Benign
1	149910576	G	A	G149910576A	SV2A	NM_014849.5(SV2A):c.1083C>T:p.Phe361=	coding	Benign
1	149910863	G	A	G149910863A	SV2A	NM_014849.5(SV2A):c.918C>T:p.Tyr306=	coding	Benign
1	149923922	G	A	G149923922A	SF3B4	NM_005850.5(SF3B4):c.1006C>T:p.Arg336Ter	coding	Pathogenic
1	149923943	A	G	A149923943G	SF3B4	NM_005850.5(SF3B4):c.985T>C:p.Ser329Pro	coding	Benign
1	149923950	G	T	G149923950T	SF3B4	NM_005850.5(SF3B4):c.978C>A:p.Pro326=	coding	Benign
1	149923959	G	A	G149923959A	SF3B4	NM_005850.5(SF3B4):c.969C>T:p.His323=	coding	Benign
1	149924018	T	C	T149924018C	SF3B4	NM_005850.5(SF3B4):c.914-4A>G	noncoding	Benign
1	149925835	C	T	C149925835T	SF3B4	NM_005850.5(SF3B4):c.913+1G>A	noncoding	Pathogenic
1	149926014	G	A	G149926014A	SF3B4	NM_005850.5(SF3B4):c.735C>T:p.Pro245=	coding	Benign
1	149926400	A	G	A149926400G	SF3B4	NM_005850.5(SF3B4):c.682T>C:p.Leu228=	coding	Benign
1	149926457	G	A	G149926457A	SF3B4	NM_005850.5(SF3B4):c.625C>T:p.Gln209Ter	coding	Pathogenic
1	149926505	G	A	G149926505A	SF3B4	NM_005850.5(SF3B4):c.577C>T:p.Arg193Ter	coding	Pathogenic
1	149926521	A	G	A149926521G	SF3B4	NM_005850.5(SF3B4):c.561T>C:p.His187=	coding	Benign
1	149926547	T	A	T149926547A	SF3B4	NM_005850.5(SF3B4):c.535A>T:p.Lys179Ter	coding	Pathogenic
1	149926630	G	T	G149926630T	SF3B4	NM_005850.5(SF3B4):c.452C>A:p.Ser151Ter	coding	Pathogenic
1	149926889	C	A	C149926889A	SF3B4	NM_005850.5(SF3B4):c.193G>T:p.Glu65Ter	coding	Pathogenic
1	149927759	T	C	T149927759C	SF3B4	NM_005850.5(SF3B4):c.1A>G:p.Met1Val	coding	Pathogenic
1	149944286	C	A	C149944286A	OTUD7B	NM_020205.4(OTUD7B):c.2103G>T:p.Pro701=	coding	Benign
1	149948986	G	A	G149948986A	OTUD7B	NM_020205.4(OTUD7B):c.1221C>T:p.Asp407=	coding	Benign
1	149971160	C	T	C149971160T	OTUD7B	NM_020205.4(OTUD7B):c.177G>A:p.Gly59=	coding	Benign
1	150068662	G	A	G150068662A	VPS45	NM_007259.5(VPS45):c.126G>A:p.Ser42=	coding	Benign
1	150072183	T	G	T150072183G	VPS45	NM_007259.5(VPS45):c.246T>G:p.Ile82Met	coding	Benign
1	150076223	T	C	T150076223C	VPS45	NM_007259.5(VPS45):c.290-10T>C	noncoding	Benign/Likely_benign
1	150076261	C	T	C150076261T	VPS45	NM_007259.5(VPS45):c.318C>T:p.Asp106=	coding	Benign/Likely_benign
1	150077225	C	T	C150077225T	VPS45	NM_007259.5(VPS45):c.570C>T:p.Cys190=	coding	Benign
1	150077763	C	A	C150077763A	VPS45	NM_007259.5(VPS45):c.671C>A:p.Thr224Asn	coding	Pathogenic
1	150081366	G	A	G150081366A	VPS45	NM_007259.5(VPS45):c.712G>A:p.Glu238Lys	coding	Pathogenic
1	150081958	A	G	A150081958G	VPS45	NM_007259.5(VPS45):c.897A>G:p.Pro299=	coding	Benign
1	150082811	A	G	A150082811G	VPS45	NM_007259.5(VPS45):c.1032A>G:p.Glu344=	coding	Benign
1	150092418	A	T	A150092418T	VPS45	NM_007259.5(VPS45):c.1371+9A>T	noncoding	Benign
1	150150908	G	T	G150150908T	PLEKHO1	NM_016274.6(PLEKHO1):c.31-4G>T	coding	Benign
1	150159158	C	T	C150159158T	PLEKHO1	NM_016274.6(PLEKHO1):c.865C>T:p.Leu289=	coding	Benign
1	150262572	G	A	G150262572A	CA14	NM_012113.3(CA14):c.447G>A:p.Glu149=	coding	Benign
1	150263865	G	A	G150263865A	CA14	NM_012113.3(CA14):c.934G>A:p.Ala312Thr	coding	Benign
1	150284469	G	A	G150284469A	CIART	NM_144697.4(CIART):c.486G>A:p.Gln162=	coding	Benign
1	150328421	C	T	C150328421T	PRPF3	NM_004698.4(PRPF3):c.378C>T:p.Ile126=	coding	Benign
1	150332758	T	A	T150332758A	PRPF3	NM_004698.4(PRPF3):c.498T>A:p.Pro166=	coding	Benign
1	150343307	A	G	A150343307G	PRPF3	NM_004698.4(PRPF3):c.1283-2A>G	noncoding	Pathogenic
1	150343311	G	T	G150343311T	PRPF3	NM_004698.4(PRPF3):c.1285G>T:p.Asp429Tyr	coding	Pathogenic
1	150344201	C	A	C150344201A	PRPF3	NM_004698.4(PRPF3):c.1466C>A:p.Ala489Asp	coding	Pathogenic
1	150344212	C	T	C150344212T	PRPF3	NM_004698.4(PRPF3):c.1477C>T:p.Pro493Ser	coding	Pathogenic
1	150344216	C	T	C150344216T	PRPF3	NM_004698.4(PRPF3):c.1481C>T:p.Thr494Met	coding	Pathogenic
1	150344231	A	C	A150344231C	PRPF3	NM_004698.4(PRPF3):c.1496A>C:p.His499Pro	coding	Pathogenic
1	150346396	C	T	C150346396T	PRPF3	NM_004698.4(PRPF3):c.1760-12C>T	noncoding	Benign
1	150352850	G	A	G150352850A	PRPF3	NM_004698.4(PRPF3):c.1923G>A:p.Arg641=	coding	Benign
1	150352931	C	T	C150352931T	PRPF3	NM_004698.4(PRPF3):c.2004C>T:p.His668=	coding	Benign/Likely_benign
1	150353021	C	T	C150353021T	PRPF3	NM_004698.4(PRPF3):c.*42C>T	noncoding	Benign
1	150353133	G	A	G150353133A	PRPF3	NM_004698.4(PRPF3):c.*154G>A	noncoding	Benign
1	150353207	A	G	A150353207G	PRPF3	NM_004698.4(PRPF3):c.*228A>G	noncoding	Benign
1	150444268	A	G	A150444268G	RPRD2	NM_015203.4(RPRD2):c.585A>G:p.Glu195=	coding	Benign
1	150487239	T	C	T150487239C	TARS2	NC_000001.11:g.150487239T>C	noncoding	Benign
1	150487692	A	G	A150487692G	TARS2	NM_025150.5(TARS2):c.67-166A>G	noncoding	Benign
1	150487872	C	T	C150487872T	TARS2	NM_025150.5(TARS2):c.81C>T:p.Thr27=	coding	Benign
1	150488062	G	T	G150488062T	TARS2	NM_025150.5(TARS2):c.263+8G>T	noncoding	Benign
1	150489325	A	G	A150489325G	TARS2	NM_025150.5(TARS2):c.387+238A>G	noncoding	Benign
1	150489397	G	T	G150489397T	TARS2	NM_025150.5(TARS2):c.387+310G>T	noncoding	Benign
1	150491296	C	G	C150491296G	TARS2	NM_025150.5(TARS2):c.513-98C>G	noncoding	Benign
1	150491665	A	G	A150491665G	TARS2	NM_025150.5(TARS2):c.695+3A>G	noncoding	Pathogenic
1	150496366	A	G	A150496366G	TARS2	NM_025150.5(TARS2):c.775-116A>G	noncoding	Benign
1	150496552	C	T	C150496552T	TARS2	NM_025150.5(TARS2):c.845C>T:p.Pro282Leu	coding	Pathogenic
1	150497004	C	T	C150497004T	TARS2	NM_025150.5(TARS2):c.1020+96C>T	noncoding	Benign
1	150497585	C	T	C150497585T	TARS2	NM_025150.5(TARS2):c.1076C>T:p.Thr359Met	coding	Benign
1	150497706	A	G	A150497706G	TARS2	NM_025150.5(TARS2):c.1197A>G:p.Thr399=	coding	Benign
1	150497820	G	A	G150497820A	TARS2	NM_025150.5(TARS2):c.1238+73G>A	noncoding	Benign
1	150497846	C	A	C150497846A	TARS2	NM_025150.5(TARS2):c.1238+99C>A	noncoding	Benign
1	150498002	C	A	C150498002A	TARS2	NM_025150.5(TARS2):c.1238+255C>A	noncoding	Benign
1	150498003	T	G	T150498003G	TARS2	NM_025150.5(TARS2):c.1238+256T>G	noncoding	Benign
1	150498514	C	T	C150498514T	TARS2	NM_025150.5(TARS2):c.1251C>T:p.Ala417=	coding	Benign/Likely_benign
1	150498580	C	T	C150498580T	TARS2	NM_025150.5(TARS2):c.1317C>T:p.Ala439=	coding	Benign
1	150498680	C	T	C150498680T	TARS2	NM_025150.5(TARS2):c.1401+16C>T	noncoding	Benign
1	150498681	T	A	T150498681A	TARS2	NM_025150.5(TARS2):c.1401+17T>A	noncoding	Benign
1	150498948	G	A	G150498948A	TARS2	NM_025150.5(TARS2):c.1453G>A:p.Val485Ile	coding	Benign/Likely_benign
1	150504040	G	A	G150504040A	TARS2	NM_025150.5(TARS2):c.1618-295G>A	noncoding	Benign
1	150504585	C	T	C150504585T	TARS2	NM_025150.5(TARS2):c.1719-47C>T	noncoding	Benign
1	150507010	G	A	G150507010A	TARS2	NM_025150.5(TARS2):c.2103G>A:p.Gln701=	coding	Benign
1	150509669	G	A	G150509669A	ECM1	NM_004425.4(ECM1):c.130G>A:p.Ala44Thr	coding	Benign
1	150509696	C	T	C150509696T	ECM1	NM_004425.4(ECM1):c.157C>T:p.Arg53Ter	coding	Pathogenic
1	150509929	C	T	C150509929T	ECM1	NM_004425.4(ECM1):c.231C>T:p.Pro77=	coding	Benign
1	150510163	C	T	C150510163T	ECM1	NM_004425.4(ECM1):c.366C>T:p.His122=	coding	Benign
1	150510970	G	A	G150510970A	ECM1	NM_004425.4(ECM1):c.480G>A:p.Trp160Ter	coding	Pathogenic
1	150510989	T	A	T150510989A	ECM1	NM_004425.4(ECM1):c.499T>A:p.Phe167Ile	coding	Pathogenic
1	150511148	T	G	T150511148G	ECM1	NM_004425.4(ECM1):c.658T>G:p.Cys220Gly	coding	Pathogenic
1	150511475	C	T	C150511475T	ECM1	NM_004425.4(ECM1):c.727C>T:p.Arg243Ter	coding	Pathogenic
1	150511508	C	T	C150511508T	ECM1	NM_004425.4(ECM1):c.760C>T:p.Arg254Ter	coding	Pathogenic
1	150511540	G	A	G150511540A	ECM1	NM_004425.4(ECM1):c.792G>A:p.Glu264=	coding	Benign
1	150511574	C	T	C150511574T	ECM1	NM_004425.4(ECM1):c.826C>T:p.Gln276Ter	coding	Pathogenic
1	150511784	C	T	C150511784T	ECM1	NM_004425.4(ECM1):c.1036C>T:p.Gln346Ter	coding	Pathogenic
1	150511841	C	T	C150511841T	ECM1	NM_004425.4(ECM1):c.1083+10C>T	noncoding	Benign/Likely_benign
1	150512368	A	T	A150512368T	ECM1	NM_004425.4(ECM1):c.1100A>T:p.Asp367Val	coding	Benign/Likely_benign
1	150512382	C	T	C150512382T	ECM1	NM_004425.4(ECM1):c.1114C>T:p.Arg372Trp	coding	Benign
1	150512422	G	A	G150512422A	ECM1	NM_004425.4(ECM1):c.1154G>A:p.Arg385His	coding	Benign
1	150512510	C	T	C150512510T	ECM1	NM_004425.4(ECM1):c.1242C>T:p.Ile414=	coding	Benign
1	150512763	G	A	G150512763A	ECM1	NM_004425.4(ECM1):c.1343G>A:p.Arg448His	coding	Benign
1	150513236	G	T	G150513236T	ECM1	NM_004425.4(ECM1):c.1393-1G>T	noncoding	Pathogenic
1	150513392	C	T	C150513392T	ECM1	NM_004425.4(ECM1):c.1548C>T:p.Asn516=	coding	Benign
1	150549837	C	T	C150549837T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.-143C>T	noncoding	Benign
1	150552897	G	A	G150552897A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.79-1G>A	noncoding	Pathogenic
1	150552949	G	A	G150552949A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.130G>A:p.Glu44Lys	coding	Benign
1	150553107	C	T	C150553107T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.288C>T:p.Leu96=	coding	Benign
1	150553240	C	T	C150553240T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.421C>T:p.Arg141Ter	coding	Pathogenic
1	150553568	G	C	G150553568C	ADAMTSL4	NM_019032.5(ADAMTSL4):c.577G>C:p.Ala193Pro	coding	Benign
1	150553613	G	A	G150553613A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.622G>A:p.Gly208Ser	coding	Benign
1	150553794	C	T	C150553794T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.803C>T:p.Ser268Phe	coding	Benign
1	150553911	G	A	G150553911A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.920G>A:p.Arg307Gln	coding	Benign
1	150553917	G	A	G150553917A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.926G>A:p.Arg309Gln	coding	Benign
1	150553930	C	G	C150553930G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.939C>G:p.Gly313=	coding	Benign
1	150553930	C	T	C150553930T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.939C>T:p.Gly313=	coding	Benign
1	150553998	G	A	G150553998A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1007G>A:p.Gly336Asp	coding	Benign/Likely_benign
1	150554089	G	A	G150554089A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1098G>A:p.Gly366=	coding	Benign
1	150555502	G	A	G150555502A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1308G>A:p.Lys436=	coding	Benign
1	150556974	T	G	T150556974G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1785T>G:p.Tyr595Ter	coding	Pathogenic
1	150557063	C	T	C150557063T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1861+13C>T	noncoding	Benign
1	150557296	C	T	C150557296T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2008C>T:p.Arg670Ter	coding	Pathogenic
1	150557533	C	A	C150557533A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2087C>A:p.Ser696Ter	coding	Pathogenic
1	150557533	C	T	C150557533T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2087C>T:p.Ser696Leu	coding	Benign
1	150557567	G	A	G150557567A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2121G>A:p.Ala707=	coding	Benign
1	150558055	C	G	C150558055G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2288C>G:p.Pro763Arg	coding	Benign/Likely_benign
1	150558055	C	T	C150558055T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2288C>T:p.Pro763Leu	coding	Benign
1	150558072	C	G	C150558072G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2305C>G:p.Leu769Val	coding	Benign
1	150558142	G	A	G150558142A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2375G>A:p.Trp792Ter	coding	Pathogenic
1	150558517	C	T	C150558517T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2427C>T:p.Arg809=	coding	Benign
1	150558532	T	C	T150558532C	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2442T>C:p.Asn814=	coding	Benign
1	150558574	G	A	G150558574A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2484G>A:p.Pro828=	coding	Benign
1	150558602	A	G	A150558602G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2512A>G:p.Met838Val	coding	Benign
1	150558694	C	T	C150558694T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2559+45C>T	coding	Benign
1	150559352	G	A	G150559352A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2829G>A:p.Thr943=	coding	Benign/Likely_benign
1	150559429	C	A	C150559429A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2906C>A:p.Ala969Asp	coding	Benign
1	150559454	G	A	G150559454A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2931G>A:p.Thr977=	coding	Benign
1	150559786	C	T	C150559786T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2969C>T:p.Thr990Met	coding	Benign/Likely_benign
1	150559900	G	A	G150559900A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3083G>A:p.Arg1028His	coding	Benign
1	150560110	C	A	C150560110A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.3139C>A:p.Arg1047=	coding	Benign
1	150560142	C	T	C150560142T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.3171C>T:p.Thr1057=	coding	Benign
1	150560316	G	A	G150560316A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*120G>A	noncoding	Benign
1	150560832	C	A	C150560832A	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*636C>A	noncoding	Benign
1	150578448	T	C	T150578448C	MCL1	NM_021960.5(MCL1):c.732A>G:p.Lys244=	coding	Benign
1	150578834	C	A	C150578834A	MCL1	NM_021960.5(MCL1):c.688+9G>T	noncoding	Benign
1	150579173	T	C	T150579173C	MCL1	NM_021960.5(MCL1):c.358A>G:p.Met120Val	coding	Benign
1	150708373	T	C	T150708373C	HORMAD1	NM_032132.5(HORMAD1):c.430A>G:p.Thr144Ala	coding	Benign
1	150747785	C	A	C150747785A	CTSS	NM_004079.5(CTSS):c.888G>T:p.Val296=	coding	Benign
1	150751772	A	T	A150751772T	CTSS	NM_004079.5(CTSS):c.627+9T>A	noncoding	Benign
1	150796799	T	C	T150796799C	CTSK	NM_000396.4(CTSK):c.990A>G:p.Ter330Trp	coding	Pathogenic
1	150796836	C	T	C150796836T	CTSK	NM_000396.4(CTSK):c.953G>A:p.Cys318Tyr	coding	Pathogenic
1	150796855	G	A	G150796855A	CTSK	NM_000396.4(CTSK):c.934C>T:p.Arg312Ter	coding	Pathogenic/Likely_pathogenic
1	150796899	C	A	C150796899A	CTSK	NM_000396.4(CTSK):c.891-1G>T	coding	Pathogenic
1	150799607	G	A	G150799607A	CTSK	NM_000396.4(CTSK):c.721C>T:p.Arg241Ter	coding	Pathogenic/Likely_pathogenic
1	150799653	T	C	T150799653C	CTSK	NM_000396.4(CTSK):c.675A>G:p.Arg225=	coding	Benign/Likely_benign
1	150804203	C	G	C150804203G	CTSK	NM_000396.4(CTSK):c.436G>C:p.Gly146Arg	coding	Pathogenic
1	150805852	G	A	G150805852A	CTSK	NM_000396.4(CTSK):c.399+9C>T	noncoding	Benign
1	150806109	C	T	C150806109T	CTSK	NM_000396.4(CTSK):c.236G>A:p.Gly79Glu	coding	Pathogenic
1	150806191	T	A	T150806191A	CTSK	NM_000396.4(CTSK):c.154A>T:p.Lys52Ter	coding	Pathogenic
1	150806209	G	A	G150806209A	CTSK	NM_000396.4(CTSK):c.136C>T:p.Arg46Trp	coding	Pathogenic/Likely_pathogenic
1	150806225	C	T	C150806225T	CTSK	NM_000396.4(CTSK):c.121-1G>A	coding	Pathogenic
1	150806801	C	T	C150806801T	CTSK	NM_000396.4(CTSK):c.5G>A:p.Trp2Ter	coding	Pathogenic
1	150817408	C	T	C150817408T	ARNT	NM_001668.4(ARNT):c.1531G>A:p.Asp511Asn	coding	Benign
1	150949261	C	G	C150949261G	SETDB1	NM_001145415.2(SETDB1):c.1407C>G:p.Pro469=	coding	Benign
1	150950463	C	T	C150950463T	SETDB1	NM_001145415.2(SETDB1):c.1586C>T:p.Pro529Leu	coding	Benign
1	150961124	C	T	C150961124T	SETDB1	NM_001145415.2(SETDB1):c.3062C>T:p.Ala1021Val	coding	Benign
1	150962697	C	T	C150962697T	SETDB1	NM_001145415.2(SETDB1):c.3269C>T:p.Ala1090Val	coding	Benign
1	150964262	G	T	G150964262T	SETDB1	NM_001145415.2(SETDB1):c.3774G>T:p.Gly1258=	coding	Benign
1	150966842	G	A	G150966842A	CERS2	NM_022075.5(CERS2):c.762C>T:p.Tyr254=	coding	Benign
1	150967407	A	G	A150967407G	CERS2	NM_022075.5(CERS2):c.597T>C:p.Ser199=	coding	Benign
1	150967832	G	A	G150967832A	CERS2	NM_022075.5(CERS2):c.456C>T:p.Ala152=	coding	Benign
1	151017906	T	C	T151017906C	PRUNE1	NM_021222.3(PRUNE1):c.132+2T>C	noncoding	Pathogenic
1	151018494	C	A	C151018494A	PRUNE1	NM_021222.3(PRUNE1):c.160C>A:p.Pro54Thr	coding	Pathogenic
1	151018530	C	T	C151018530T	PRUNE1	NM_021222.3(PRUNE1):c.196C>T:p.Arg66Ter	coding	Pathogenic/Likely_pathogenic
1	151018650	G	A	G151018650A	PRUNE1	NM_021222.3(PRUNE1):c.316G>A:p.Asp106Asn	coding	Pathogenic/Likely_pathogenic
1	151024679	G	A	G151024679A	PRUNE1	NM_021222.3(PRUNE1):c.404G>A:p.Cys135Tyr	coding	Benign
1	151028900	C	T	C151028900T	PRUNE1	NM_021222.3(PRUNE1):c.889C>T:p.Arg297Trp	coding	Pathogenic
1	151067323	A	G	A151067323G	MLLT11	NM_006818.4(MLLT11):c.99A>G:p.Ser33=	coding	Benign
1	151067437	C	T	C151067437T	MLLT11	NM_006818.4(MLLT11):c.213C>T:p.Thr71=	coding	Benign
1	151134828	C	G	C151134828G	SEMA6C	NM_001178061.2(SEMA6C):c.1628G>C:p.Arg543Thr	coding	Benign
1	151135315	G	A	G151135315A	SEMA6C	NM_001178061.2(SEMA6C):c.1434-6C>T	noncoding	Benign
1	151136850	T	G	T151136850G	SEMA6C	NM_001178061.2(SEMA6C):c.974+7A>C	noncoding	Benign
1	151142531	G	A	G151142531A	SEMA6C	NM_001178061.2(SEMA6C):c.91C>T:p.Leu31Phe	coding	Benign
1	151158768	G	A	G151158768A	TNFAIP8L2	NM_024575.5(TNFAIP8L2):c.71G>A:p.Arg24His	coding	Benign
1	151159060	C	G	C151159060G	TNFAIP8L2	NM_024575.5(TNFAIP8L2):c.363C>G:p.Thr121=	coding	Benign
1	151159105	G	A	G151159105A	TNFAIP8L2	NM_024575.5(TNFAIP8L2):c.408G>A:p.Thr136=	coding	Benign
1	151264022	G	C	G151264022C	PSMD4	NM_002810.4(PSMD4):c.276G>C:p.Val92=	coding	Benign
1	151266099	G	A	G151266099A	PSMD4	NM_002810.4(PSMD4):c.750G>A:p.Thr250=	coding	Benign
1	151286637	G	A	G151286637A	ZNF687	NM_020832.3(ZNF687):c.346G>A:p.Gly116Arg	coding	Benign
1	151286943	T	C	T151286943C	ZNF687	NM_020832.3(ZNF687):c.652T>C:p.Leu218=	coding	Benign
1	151287016	G	T	G151287016T	ZNF687	NM_020832.3(ZNF687):c.725G>T:p.Ser242Ile	coding	Pathogenic
1	151287128	C	T	C151287128T	ZNF687	NM_020832.3(ZNF687):c.837C>T:p.Pro279=	coding	Benign
1	151287611	C	T	C151287611T	ZNF687	NM_020832.3(ZNF687):c.1320C>T:p.Asn440=	coding	Benign
1	151288260	C	T	C151288260T	ZNF687	NM_020832.3(ZNF687):c.1969C>T:p.Leu657Phe	coding	Benign
1	151288713	C	T	C151288713T	ZNF687	NM_020832.3(ZNF687):c.2294+7C>T	noncoding	Benign
1	151289257	A	C	A151289257C	ZNF687	NM_020832.3(ZNF687):c.2457A>C:p.Gln819His	coding	Benign
1	151289390	G	A	G151289390A	ZNF687	NM_020832.3(ZNF687):c.2484G>A:p.Lys828=	coding	Benign
1	151289853	C	G	C151289853G	ZNF687	NM_020832.3(ZNF687):c.2810C>G:p.Pro937Arg	coding	Pathogenic
1	151289879	C	A	C151289879A	ZNF687	NM_020832.3(ZNF687):c.2836C>A:p.Arg946=	coding	Benign
1	151290169	C	T	C151290169T	ZNF687	NM_020832.3(ZNF687):c.3012C>T:p.Ser1004=	coding	Benign
1	151290501	C	T	C151290501T	ZNF687	NM_020832.3(ZNF687):c.3147C>T:p.His1049=	coding	Benign
1	151290839	G	A	G151290839A	ZNF687	NM_020832.3(ZNF687):c.3344G>A:p.Arg1115Gln	coding	Benign
1	151341102	T	G	T151341102G	RFX5	NM_000449.3(RFX5):c.*1084A>C	noncoding	Benign
1	151341298	A	G	A151341298G	RFX5	NM_000449.3(RFX5):c.*888T>C	noncoding	Benign
1	151341903	T	C	T151341903C	RFX5	NM_000449.3(RFX5):c.*283A>G	noncoding	Benign
1	151341942	T	C	T151341942C	RFX5	NM_000449.3(RFX5):c.*244A>G	noncoding	Benign
1	151342468	C	T	C151342468T	RFX5	NM_001025603.2(RFX5):c.1569G>A:p.Glu523=	coding	Benign/Likely_benign
1	151342542	G	A	G151342542A	RFX5	NM_001025603.2(RFX5):c.1495C>T:p.Pro499Ser	coding	Benign
1	151342658	C	T	C151342658T	RFX5	NM_001025603.2(RFX5):c.1379G>A:p.Ser460Asn	coding	Benign/Likely_benign
1	151342811	G	C	G151342811C	RFX5	NM_001025603.2(RFX5):c.1226C>G:p.Pro409Arg	coding	Benign
1	151343005	G	A	G151343005A	RFX5	NM_001025603.2(RFX5):c.1032C>T:p.Ile344=	coding	Pathogenic
1	151343053	C	T	C151343053T	RFX5	NM_001025603.2(RFX5):c.984G>A:p.Arg328=	coding	Benign
1	151343055	G	T	G151343055T	RFX5	NM_001025603.2(RFX5):c.982C>A:p.Arg328=	coding	Benign
1	151343137	G	A	G151343137A	RFX5	NM_001025603.2(RFX5):c.900C>T:p.Leu300=	coding	Benign
1	151343685	G	A	G151343685A	RFX5	NM_001025603.2(RFX5):c.753C>T:p.Leu251=	coding	Benign
1	151343848	C	T	C151343848T	RFX5	NM_001025603.2(RFX5):c.590G>A:p.Arg197Gln	coding	Benign
1	151344848	C	T	C151344848T	RFX5	NM_000449.3(RFX5):c.234-1G>A	coding	Pathogenic
1	151345102	C	G	C151345102G	RFX5	NM_000449.3(RFX5):c.233+4G>C	noncoding	Benign
1	151345117	A	C	A151345117C	RFX5	NM_001025603.2(RFX5):c.222T>G:p.Thr74=	coding	Benign
1	151346200	C	T	C151346200T	RFX5	NM_000449.3(RFX5):c.116+5G>A	noncoding	Pathogenic
1	151346257	C	T	C151346257T	RFX5	NM_001025603.2(RFX5):c.64G>A:p.Ala22Thr	coding	Benign
1	151365227	C	T	C151365227T	SELENBP1	NM_003944.4(SELENBP1):c.1099G>A:p.Glu367Lys	coding	Benign
1	151368198	C	T	C151368198T	SELENBP1	NM_003944.4(SELENBP1):c.481+1G>A	noncoding	Pathogenic
1	151369195	A	G	A151369195G	SELENBP1	NM_003944.4(SELENBP1):c.175-6T>C	noncoding	Benign
1	151369198	C	A	C151369198A	SELENBP1	NM_003944.4(SELENBP1):c.175-9G>T	noncoding	Benign
1	151399579	G	A	G151399579A	PSMB4	NM_002796.3(PSMB4):c.-9G>A	noncoding	Pathogenic
1	151401328	C	A	C151401328A	PSMB4	NM_002796.3(PSMB4):c.666C>A:p.Tyr222Ter	coding	Pathogenic
1	151404931	A	C	A151404931C	POGZ	NM_015100.4(POGZ):c.4104T>G:p.Thr1368=	coding	Benign
1	151404931	A	T	A151404931T	POGZ	NM_015100.4(POGZ):c.4104T>A:p.Thr1368=	coding	Benign/Likely_benign
1	151404940	C	A	C151404940A	POGZ	NM_015100.4(POGZ):c.4095G>T:p.Glu1365Asp	coding	Benign
1	151405188	G	A	G151405188A	POGZ	NM_015100.4(POGZ):c.3847C>T:p.Gln1283Ter	coding	Pathogenic
1	151405363	G	A	G151405363A	POGZ	NM_015100.4(POGZ):c.3672C>T:p.Gly1224=	coding	Benign
1	151405738	C	T	C151405738T	POGZ	NM_015100.4(POGZ):c.3297G>A:p.Glu1099=	coding	Benign/Likely_benign
1	151405756	T	A	T151405756A	POGZ	NM_015100.4(POGZ):c.3279A>T:p.Leu1093=	coding	Benign
1	151405776	G	A	G151405776A	POGZ	NM_015100.4(POGZ):c.3259C>T:p.Arg1087Ter	coding	Pathogenic/Likely_pathogenic
1	151405798	G	A	G151405798A	POGZ	NM_015100.4(POGZ):c.3237C>T:p.His1079=	coding	Benign/Likely_benign
1	151406011	T	C	T151406011C	POGZ	NM_015100.4(POGZ):c.3024A>G:p.Arg1008=	coding	Benign
1	151406013	G	A	G151406013A	POGZ	NM_015100.4(POGZ):c.3022C>T:p.Arg1008Ter	coding	Pathogenic
1	151406034	G	A	G151406034A	POGZ	NM_015100.4(POGZ):c.3001C>T:p.Arg1001Ter	coding	Pathogenic
1	151406046	G	A	G151406046A	POGZ	NM_015100.4(POGZ):c.2989C>T:p.Arg997Ter	coding	Pathogenic/Likely_pathogenic
1	151406100	G	A	G151406100A	POGZ	NM_015100.4(POGZ):c.2935C>T:p.Arg979Ter	coding	Pathogenic
1	151406121	G	A	G151406121A	POGZ	NM_015100.4(POGZ):c.2914C>T:p.Gln972Ter	coding	Pathogenic
1	151406122	C	T	C151406122T	POGZ	NM_015100.4(POGZ):c.2913G>A:p.Glu971=	coding	Benign/Likely_benign
1	151406229	C	A	C151406229A	POGZ	NM_015100.4(POGZ):c.2806G>T:p.Gly936Ter	coding	Pathogenic
1	151406246	G	C	G151406246C	POGZ	NM_015100.4(POGZ):c.2789C>G:p.Pro930Arg	coding	Benign/Likely_benign
1	151406306	G	T	G151406306T	POGZ	NM_015100.4(POGZ):c.2729C>A:p.Ser910Ter	coding	Pathogenic
1	151406324	A	T	A151406324T	POGZ	NM_015100.4(POGZ):c.2711T>A:p.Leu904Ter	coding	Pathogenic
1	151406366	G	A	G151406366A	POGZ	NM_015100.4(POGZ):c.2669C>T:p.Ala890Val	coding	Benign/Likely_benign
1	151406401	G	C	G151406401C	POGZ	NM_015100.4(POGZ):c.2634C>G:p.Ser878=	coding	Benign/Likely_benign
1	151406445	G	A	G151406445A	POGZ	NM_015100.4(POGZ):c.2590C>T:p.Arg864Ter	coding	Pathogenic
1	151406610	G	C	G151406610C	POGZ	NM_015100.4(POGZ):c.2567C>G:p.Ser856Ter	coding	Pathogenic
1	151406621	C	T	C151406621T	POGZ	NM_015100.4(POGZ):c.2556G>A:p.Trp852Ter	coding	Pathogenic
1	151407025	T	A	T151407025A	POGZ	NM_015100.4(POGZ):c.2433-2A>T	noncoding	Pathogenic
1	151407248	T	A	T151407248A	POGZ	NM_015100.4(POGZ):c.2419A>T:p.Lys807Ter	coding	Pathogenic
1	151408125	G	A	G151408125A	POGZ	NM_015100.4(POGZ):c.2350C>T:p.Arg784Ter	coding	Pathogenic
1	151408165	G	C	G151408165C	POGZ	NM_015100.4(POGZ):c.2310C>G:p.Tyr770Ter	coding	Pathogenic
1	151408250	A	G	A151408250G	POGZ	NM_015100.4(POGZ):c.2235-10T>C	noncoding	Benign
1	151408551	G	A	G151408551A	POGZ	NM_015100.4(POGZ):c.2092C>T:p.Arg698Ter	coding	Pathogenic
1	151411741	C	A	C151411741A	POGZ	NM_015100.4(POGZ):c.1810G>T:p.Glu604Ter	coding	Pathogenic
1	151411763	T	C	T151411763C	POGZ	NM_015100.4(POGZ):c.1788A>G:p.Gln596=	coding	Benign/Likely_benign
1	151423467	G	T	G151423467T	POGZ	NM_015100.4(POGZ):c.1608C>A:p.Tyr536Ter	coding	Pathogenic
1	151423950	G	A	G151423950A	POGZ	NM_015100.4(POGZ):c.1522C>T:p.Arg508Ter	coding	Pathogenic
1	151425081	T	C	T151425081C	POGZ	NM_015100.4(POGZ):c.1079-20A>G	noncoding	Pathogenic
1	151427956	A	G	A151427956G	POGZ	NM_015100.4(POGZ):c.945T>C:p.Asn315=	coding	Benign
1	151427971	T	C	T151427971C	POGZ	NM_015100.4(POGZ):c.930A>G:p.Thr310=	coding	Benign
1	151428046	G	A	G151428046A	POGZ	NM_015100.4(POGZ):c.860-5C>T	noncoding	Benign
1	151428149	G	C	G151428149C	POGZ	NM_015100.4(POGZ):c.833C>G:p.Ser278Ter	coding	Pathogenic
1	151428229	G	A	G151428229A	POGZ	NM_015100.4(POGZ):c.753C>T:p.Ser251=	coding	Benign/Likely_benign
1	151428235	G	A	G151428235A	POGZ	NM_015100.4(POGZ):c.747C>T:p.Thr249=	coding	Benign/Likely_benign
1	151428270	G	A	G151428270A	POGZ	NM_015100.4(POGZ):c.712C>T:p.Arg238Ter	coding	Pathogenic
1	151429712	C	T	C151429712T	POGZ	NM_015100.4(POGZ):c.460-1G>A	coding	Pathogenic
1	151430768	T	C	T151430768C	POGZ	NM_015100.4(POGZ):c.357A>G:p.Thr119=	coding	Benign
1	151440989	G	A	G151440989A	POGZ	NM_015100.4(POGZ):c.222C>T:p.Ser74=	coding	Benign/Likely_benign
1	151441087	C	A	C151441087A	POGZ	NM_015100.4(POGZ):c.125-1G>T	coding	Pathogenic
1	151518699	C	T	C151518699T	CGN	NM_020770.3(CGN):c.180C>T:p.Ile60=	coding	Benign
1	151520622	C	T	C151520622T	CGN	NM_020770.3(CGN):c.1071C>T:p.Ala357=	coding	Benign
1	151525667	G	A	G151525667A	CGN	NM_020770.3(CGN):c.1640G>A:p.Arg547Lys	coding	Benign
1	151530113	G	A	G151530113A	CGN	NM_020770.3(CGN):c.2311G>A:p.Glu771Lys	coding	Benign
1	151535055	G	A	G151535055A	CGN	NM_020770.3(CGN):c.2918G>A:p.Arg973Gln	coding	Benign
1	151561845	G	A	G151561845A	TUFT1	NM_020127.3(TUFT1):c.61-246G>A	coding	Benign
1	151612219	G	A	G151612219A	SNX27	NM_001330723.2(SNX27):c.18G>A:p.Gly6=	coding	Benign
1	151666010	T	C	T151666010C	SNX27	NM_001330723.2(SNX27):c.984T>C:p.Phe328=	coding	Benign
1	151683361	C	T	C151683361T	SNX27	NM_001330723.2(SNX27):c.1155C>T:p.Val385=	coding	Benign
1	151683424	C	G	C151683424G	SNX27	NM_001330723.2(SNX27):c.1218C>G:p.Tyr406Ter	coding	Pathogenic
1	151692524	C	T	C151692524T	SNX27	NM_001330723.2(SNX27):c.1329C>T:p.Ile443=	coding	Benign
1	151762509	T	C	T151762509C	MRPL9	NM_031420.4(MRPL9):c.311-9A>G	noncoding	Benign
1	151807623	T	C	T151807623C	RORC	NM_005060.4(RORC):c.1406A>G:p.Lys469Arg	coding	Benign
1	151811329	G	C	G151811329C	RORC	NM_005060.4(RORC):c.1391C>G:p.Ala464Gly	coding	Benign
1	151811399	G	A	G151811399A	RORC	NM_005060.4(RORC):c.1321C>T:p.Gln441Ter	coding	Pathogenic
1	151813350	G	T	G151813350T	RORC	NM_005060.4(RORC):c.1067-4C>A	noncoding	Benign
1	151813564	G	A	G151813564A	RORC	NM_005060.4(RORC):c.990C>T:p.Tyr330=	coding	Benign
1	151813569	G	A	G151813569A	RORC	NM_005060.4(RORC):c.985C>T:p.Gln329Ter	coding	Pathogenic
1	151815235	C	T	C151815235T	RORC	NM_005060.4(RORC):c.489G>A:p.Ser163=	coding	Benign
1	151816776	G	A	G151816776A	RORC	NM_005060.4(RORC):c.186C>T:p.Asn62=	coding	Benign
1	151817238	G	A	G151817238A	RORC	NM_005060.4(RORC):c.113C>T:p.Ser38Leu	coding	Pathogenic
1	151831732	G	A	G151831732A	RORC	NM_005060.4(RORC):c.33C>T:p.Ala11=	coding	Benign
1	151889366	C	G	C151889366G	THEM4	NM_053055.5(THEM4):c.294G>C:p.Lys98Asn	coding	Benign
1	151895052	C	T	C151895052T	THEM4	NM_053055.5(THEM4):c.242G>A:p.Arg81His	coding	Benign
1	152085317	A	G	A152085317G	TCHHL1	NM_001008536.2(TCHHL1):c.2365T>C:p.Cys789Arg	coding	Benign
1	152085438	A	G	A152085438G	TCHHL1	NM_001008536.2(TCHHL1):c.2244T>C:p.Asp748=	coding	Benign
1	152086802	G	A	G152086802A	TCHHL1	NM_001008536.2(TCHHL1):c.880C>T:p.Gln294Ter	coding	Benign
1	152087104	G	C	G152087104C	TCHHL1	NM_001008536.2(TCHHL1):c.578C>G:p.Ala193Gly	coding	Benign
1	152087183	T	A	T152087183A	TCHHL1	NM_001008536.2(TCHHL1):c.499A>T:p.Asn167Tyr	coding	Benign
1	152108128	C	G	C152108128G	TCHH	NM_007113.3(TCHH):c.5089G>C:p.Glu1697Gln	coding	Benign
1	152108414	T	C	T152108414C	TCHH	NM_007113.3(TCHH):c.4803A>G:p.Glu1601=	coding	Benign
1	152110481	C	G	C152110481G	TCHH	NM_007113.3(TCHH):c.2736G>C:p.Glu912Asp	coding	Benign
1	152111160	G	C	G152111160C	TCHH	NM_007113.3(TCHH):c.2057C>G:p.Ala686Gly	coding	Benign
1	152111330	C	T	C152111330T	TCHH	NM_007113.3(TCHH):c.1887G>A:p.Arg629=	coding	Benign
1	152111929	C	G	C152111929G	TCHH	NM_007113.3(TCHH):c.1288G>C:p.Glu430Gln	coding	Benign
1	152223233	G	A	G152223233A	HRNR	NM_001009931.3(HRNR):c.21C>T:p.Gly7=	coding	Benign
1	152303311	G	A	G152303311A	FLG	NM_002016.1(FLG):c.11575C>T:p.Gln3859Ter	coding	Pathogenic
1	152303358	G	C	G152303358C	FLG	NM_002016.1(FLG):c.11528C>G:p.Ser3843Ter	coding	Pathogenic
1	152303434	G	A	G152303434A	FLG	NM_002016.1(FLG):c.11452C>T:p.Gln3818Ter	coding	Pathogenic
1	152303640	G	C	G152303640C	FLG	NM_002016.1(FLG):c.11246C>G:p.Ser3749Ter	coding	Pathogenic
1	152303917	G	A	G152303917A	FLG	NM_002016.1(FLG):c.10969C>T:p.Arg3657Ter	coding	Pathogenic
1	152304328	G	A	G152304328A	FLG	NM_002016.1(FLG):c.10558C>T:p.Gln3520Ter	coding	Pathogenic
1	152304631	G	A	G152304631A	FLG	NM_002016.2(FLG):c.10255C>T:p.Arg3419Ter	coding	Pathogenic
1	152304661	G	A	G152304661A	FLG	NM_002016.1(FLG):c.10225C>T:p.Arg3409Ter	coding	Pathogenic
1	152304939	G	C	G152304939C	FLG	NM_002016.2(FLG):c.9947C>G	coding	Pathogenic/Likely_pathogenic
1	152304999	G	T	G152304999T	FLG	NM_002016.1(FLG):c.9887C>A:p.Ser3296Ter	coding	Pathogenic
1	152305146	G	T	G152305146T	FLG	NM_002016.2(FLG):c.9740C>A	coding	Pathogenic/Likely_pathogenic
1	152305228	C	G	C152305228G	FLG	NM_002016.2(FLG):c.9658G>C:p.Asp3220His	coding	Benign
1	152305291	G	A	G152305291A	FLG	NM_002016.1(FLG):c.9595C>T:p.Gln3199Ter	coding	Pathogenic
1	152305366	T	C	T152305366C	FLG	NM_002016.1(FLG):c.9520A>G:p.Ser3174Gly	coding	Benign
1	152305801	G	A	G152305801A	FLG	NM_002016.2(FLG):c.9085C>T:p.Gln3029Ter	coding	Pathogenic
1	152305975	T	A	T152305975A	FLG	NM_002016.1(FLG):c.8911A>T:p.Arg2971Ter	coding	Pathogenic
1	152306769	G	C	G152306769C	FLG	NM_002016.1(FLG):c.8117C>G:p.Ser2706Ter	coding	Pathogenic
1	152306833	G	A	G152306833A	FLG	NM_002016.2(FLG):c.8053C>T:p.Arg2685Ter	coding	Pathogenic
1	152307049	T	A	T152307049A	FLG	NM_002016.1(FLG):c.7837A>T:p.Arg2613Ter	coding	Pathogenic
1	152307528	G	C	G152307528C	FLG	NM_002016.1(FLG):c.7358C>G:p.Ser2453Ter	coding	Pathogenic
1	152307528	G	T	G152307528T	FLG	NM_002016.1(FLG):c.7358C>A:p.Ser2453Ter	coding	Pathogenic
1	152307547	G	A	G152307547A	FLG	NM_002016.1(FLG):c.7339C>T:p.Arg2447Ter	coding	Pathogenic
1	152307622	C	A	C152307622A	FLG	NM_002016.1(FLG):c.7264G>T:p.Glu2422Ter	coding	Pathogenic
1	152307637	G	A	G152307637A	FLG	NM_002016.1(FLG):c.7249C>T:p.Gln2417Ter	coding	Pathogenic
1	152307697	G	A	G152307697A	FLG	NM_002016.1(FLG):c.7189C>T:p.Gln2397Ter	coding	Pathogenic
1	152307805	G	A	G152307805A	FLG	NM_002016.1(FLG):c.7081C>T:p.Arg2361Ter	coding	Pathogenic
1	152307855	G	C	G152307855C	FLG	NM_002016.1(FLG):c.7031C>G:p.Ser2344Ter	coding	Pathogenic
1	152308204	C	A	C152308204A	FLG	NM_002016.1(FLG):c.6682G>T:p.Gly2228Ter	coding	Pathogenic
1	152308610	G	T	G152308610T	FLG	NM_002016.1(FLG):c.6276C>A:p.Tyr2092Ter	coding	Pathogenic
1	152308647	G	T	G152308647T	FLG	NM_002016.1(FLG):c.6239C>A:p.Ser2080Ter	coding	Pathogenic
1	152308678	G	A	G152308678A	FLG	NM_002016.1(FLG):c.6208C>T:p.Gln2070Ter	coding	Pathogenic
1	152308777	G	A	G152308777A	FLG	NM_002016.1(FLG):c.6109C>T:p.Arg2037Ter	coding	Pathogenic
1	152308956	G	C	G152308956C	FLG	NM_002016.1(FLG):c.5930C>G:p.Ser1977Ter	coding	Pathogenic
1	152309045	C	T	C152309045T	FLG	NM_002016.2(FLG):c.5841G>A:p.Trp1947Ter	coding	Pathogenic
1	152309494	G	A	G152309494A	FLG	NM_002016.1(FLG):c.5392C>T:p.Arg1798Ter	coding	Pathogenic
1	152309656	G	A	G152309656A	FLG	NM_002016.1(FLG):c.5230C>T:p.Gln1744Ter	coding	Pathogenic
1	152309700	G	C	G152309700C	FLG	NM_002016.1(FLG):c.5186C>G:p.Ser1729Ter	coding	Pathogenic
1	152309716	C	A	C152309716A	FLG	NM_002016.1(FLG):c.5170G>T:p.Gly1724Ter	coding	Pathogenic
1	152310100	G	A	G152310100A	FLG	NM_002016.1(FLG):c.4786C>T:p.Gln1596Ter	coding	Pathogenic
1	152310466	G	A	G152310466A	FLG	NM_002016.1(FLG):c.4420C>T:p.Arg1474Ter	coding	Pathogenic
1	152310981	G	T	G152310981T	FLG	NM_002016.1(FLG):c.3905C>A:p.Ser1302Ter	coding	Pathogenic
1	152311129	C	A	C152311129A	FLG	NM_002016.1(FLG):c.3757G>T:p.Gly1253Ter	coding	Pathogenic
1	152311335	G	T	G152311335T	FLG	NM_002016.1(FLG):c.3551C>A:p.Ser1184Ter	coding	Pathogenic
1	152311459	C	A	C152311459A	FLG	NM_002016.1(FLG):c.3427G>T:p.Gly1143Ter	coding	Pathogenic
1	152311468	G	A	G152311468A	FLG	NM_002016.1(FLG):c.3418C>T:p.Arg1140Ter	coding	Pathogenic
1	152311569	C	T	C152311569T	FLG	NM_002016.1(FLG):c.3317G>A:p.Trp1106Ter	coding	Pathogenic
1	152311827	G	C	G152311827C	FLG	NM_002016.1(FLG):c.3059C>G:p.Ser1020Ter	coding	Pathogenic
1	152311876	G	A	G152311876A	FLG	NM_002016.1(FLG):c.3010C>T:p.Gln1004Ter	coding	Pathogenic
1	152311948	G	C	G152311948C	FLG	NM_002016.2(FLG):c.2938C>G:p.His980Asp	coding	Benign
1	152311957	G	A	G152311957A	FLG	NM_002016.1(FLG):c.2929C>T:p.Gln977Ter	coding	Pathogenic
1	152312459	C	T	C152312459T	FLG	NM_002016.1(FLG):c.2427G>A:p.Trp809Ter	coding	Pathogenic
1	152312524	G	A	G152312524A	FLG	NM_002016.1(FLG):c.2362C>T:p.Arg788Ter	coding	Pathogenic
1	152312623	C	T	C152312623T	FLG	NM_002016.1(FLG):c.2263G>A:p.Glu755Lys	coding	Benign
1	152312668	G	A	G152312668A	FLG	NM_002016.1(FLG):c.2218C>T:p.Arg740Ter	coding	Pathogenic
1	152312743	G	A	G152312743A	FLG	NM_002016.2(FLG):c.2143C>T:p.Gln715Ter	coding	Pathogenic
1	152313060	G	T	G152313060T	FLG	NM_002016.1(FLG):c.1826C>A:p.Ser609Ter	coding	Pathogenic
1	152313385	G	A	G152313385A	FLG	NM_002016.1(FLG):c.1501C>T:p.Arg501Ter	coding	Pathogenic/Likely_pathogenic
1	152313454	G	A	G152313454A	FLG	NM_002016.2(FLG):c.1432C>T:p.Pro478Ser	coding	Benign
1	152313526	T	C	T152313526C	FLG	NM_002016.2(FLG):c.1360A>G:p.Thr454Ala	coding	Benign
1	152313823	G	A	G152313823A	FLG	NM_002016.1(FLG):c.1063C>T:p.Gln355Ter	coding	Pathogenic
1	152313909	C	T	C152313909T	FLG	NM_002016.1(FLG):c.977G>A:p.Trp326Ter	coding	Pathogenic
1	152314107	G	T	G152314107T	FLG	NM_002016.1(FLG):c.779C>A:p.Ser260Ter	coding	Pathogenic
1	152314342	T	A	T152314342A	FLG	NM_002016.1(FLG):c.544A>T:p.Lys182Ter	coding	Pathogenic
1	152314399	C	A	C152314399A	FLG	NM_002016.1(FLG):c.487G>T:p.Gly163Ter	coding	Pathogenic
1	152315363	C	A	C152315363A	FLG	NM_002016.1(FLG):c.94G>T:p.Glu32Ter	coding	Pathogenic
1	152315381	C	T	C152315381T	FLG	NM_002016.2(FLG):c.76G>A:p.Asp26Asn	coding	Benign
1	152356721	A	T	A152356721T	FLG2	NM_001014342.3(FLG2):c.1065T>A:p.Tyr355Ter	coding	Pathogenic
1	152357154	G	C	G152357154C	FLG2	NM_001014342.3(FLG2):c.632C>G:p.Ser211Ter	coding	Pathogenic
1	152600944	C	A	C152600944A	LCE3C	NM_178434.3(LCE3C):c.213C>A:p.Asn71Lys	coding	Benign
1	152600987	C	T	C152600987T	LCE3C	NM_178434.3(LCE3C):c.256C>T:p.Arg86Cys	coding	Benign
1	152600988	G	A	G152600988A	LCE3C	NM_178434.3(LCE3C):c.257G>A:p.Arg86His	coding	Benign
1	152623089	C	G	C152623089G	LCE3A	NM_178431.1(LCE3A):c.15G>C:p.Gln5His	coding	Benign
1	152760707	C	A	C152760707A	KPRP	NM_001025231.2(KPRP):c.1119C>A:p.His373Gln	coding	Benign
1	152805162	C	T	C152805162T	LCE1C	NM_178351.4(LCE1C):c.317G>A:p.Cys106Tyr	coding	Benign
1	152805279	C	A	C152805279A	LCE1C	NM_178351.4(LCE1C):c.200G>T:p.Cys67Phe	coding	Benign
1	152910289	G	A	G152910289A	IVL	NM_005547.3(IVL):c.492G>A:p.Lys164=	coding	Benign
1	152910335	G	A	G152910335A	IVL	NM_005547.3(IVL):c.538G>A:p.Glu180Lys	coding	Benign
1	152910506	C	G	C152910506G	IVL	NM_005547.3(IVL):c.709C>G:p.Gln237Glu	coding	Benign
1	152910560	C	T	C152910560T	IVL	NM_005547.3(IVL):c.763C>T:p.Leu255Phe	coding	Benign
1	152910661	G	A	G152910661A	IVL	NM_005547.3(IVL):c.864G>A:p.Gln288=	coding	Benign
1	152911144	G	A	G152911144A	IVL	NM_005547.3(IVL):c.1347G>A:p.Gln449=	coding	Benign
1	152911145	T	A	T152911145A	IVL	NM_005547.3(IVL):c.1348T>A:p.Leu450Met	coding	Benign
1	152911171	G	A	G152911171A	IVL	NM_005547.3(IVL):c.1374G>A:p.Gly458=	coding	Benign
1	152911310	C	G	C152911310G	IVL	NM_005547.3(IVL):c.1513C>G:p.Gln505Glu	coding	Benign
1	153056677	G	T	G153056677T	SPRR2A	NM_005988.3(SPRR2A):c.59C>A:p.Thr20Lys	coding	Benign
1	153218459	C	T	C153218459T	PRR9	NM_001195571.2(PRR9):c.315C>T:p.Val105=	coding	Benign
1	153261225	A	G	A153261225G	LORICRIN	NM_000427.3(LORICRIN):c.276A>G:p.Gly92=	coding	Benign
1	153261803	C	T	C153261803T	LORICRIN	NM_000427.3(LORICRIN):c.854C>T:p.Ser285Phe	coding	Benign
1	153298104	G	A	G153298104A	PGLYRP3	NM_052891.2(PGLYRP3):c.878C>T:p.Ala293Val	coding	Benign
1	153299162	A	G	A153299162G	PGLYRP3	NM_052891.2(PGLYRP3):c.798T>C:p.Tyr266=	coding	Benign
1	153303879	T	C	T153303879C	PGLYRP3	NM_052891.2(PGLYRP3):c.507A>G:p.Gln169=	coding	Benign
1	153307121	G	A	G153307121A	PGLYRP3	NM_052891.2(PGLYRP3):c.202C>T:p.Arg68Trp	coding	Benign
1	153307188	G	C	G153307188C	PGLYRP3	NM_052891.2(PGLYRP3):c.135C>G:p.Ala45=	coding	Benign
1	153310602	A	G	A153310602G	PGLYRP3	NM_052891.2(PGLYRP3):c.55+9T>C	noncoding	Benign
1	153360639	C	T	C153360639T	S100A9	NM_002965.4(S100A9):c.151-5C>T	noncoding	Benign
1	153360788	G	A	G153360788A	S100A9	NM_002965.4(S100A9):c.295G>A:p.Glu99Lys	coding	Benign
1	153374575	C	T	C153374575T	S100A12	NM_005621.2(S100A12):c.18G>A:p.Glu6=	coding	Benign
1	153534700	C	T	C153534700T	S100A6	NM_014624.4(S100A6):c.269G>A:p.Gly90Asp	coding	Benign
1	153543831	G	A	G153543831A	S100A4	NM_002961.3(S100A4):c.234C>T:p.Phe78=	coding	Benign
1	153543861	G	A	G153543861A	S100A4	NM_002961.3(S100A4):c.204C>T:p.Asn68=	coding	Benign
1	153543882	G	A	G153543882A	S100A4	NM_002961.3(S100A4):c.183C>T:p.Asn61=	coding	Benign
1	153544735	C	T	C153544735T	S100A4	NM_002961.3(S100A4):c.60G>A:p.Ser20=	coding	Benign
1	153563870	C	G	C153563870G	S100A2	NM_005978.4(S100A2):c.8G>C:p.Cys3Ser	coding	Benign
1	153630581	G	A	G153630581A	S100A1	NM_006271.2(S100A1):c.60G>A:p.Ser20=	coding	Benign
1	153686741	G	A	G153686741A	NPR1	NM_000906.4(NPR1):c.1854G>A:p.Gly618=	coding	Benign
1	153688210	C	T	C153688210T	NPR1	NM_000906.4(NPR1):c.2406C>T:p.Arg802=	coding	Benign
1	153689947	G	A	G153689947A	NPR1	NM_000906.4(NPR1):c.2899G>A:p.Glu967Lys	coding	Benign
1	153777733	C	T	C153777733T	SLC27A3	NM_024330.4(SLC27A3):c.1037-28C>T	noncoding	Benign
1	153777735	T	C	T153777735C	SLC27A3	NM_024330.4(SLC27A3):c.1037-26T>C	noncoding	Benign
1	153812083	G	A	G153812083A	GATAD2B	NM_020699.4(GATAD2B):c.1469C>T:p.Ala490Val	coding	Benign/Likely_benign
1	153812108	G	A	G153812108A	GATAD2B	NM_020699.4(GATAD2B):c.1444C>T:p.Gln482Ter	coding	Pathogenic
1	153812120	G	A	G153812120A	GATAD2B	NM_020699.4(GATAD2B):c.1432C>T:p.Arg478Ter	coding	Pathogenic/Likely_pathogenic
1	153812123	G	A	G153812123A	GATAD2B	NM_020699.4(GATAD2B):c.1429C>T:p.Gln477Ter	coding	Pathogenic
1	153812126	C	A	C153812126A	GATAD2B	NM_020699.4(GATAD2B):c.1426G>T:p.Glu476Ter	coding	Pathogenic
1	153813249	C	T	C153813249T	GATAD2B	NM_020699.4(GATAD2B):c.1419+1G>A	noncoding	Pathogenic
1	153813252	G	A	G153813252A	GATAD2B	NM_020699.4(GATAD2B):c.1417C>T:p.Gln473Ter	coding	Pathogenic
1	153813258	G	A	G153813258A	GATAD2B	NM_020699.4(GATAD2B):c.1411C>T:p.Gln471Ter	coding	Pathogenic
1	153813261	G	A	G153813261A	GATAD2B	NM_020699.4(GATAD2B):c.1408C>T:p.Gln470Ter	coding	Pathogenic
1	153813411	A	G	A153813411G	GATAD2B	NM_020699.4(GATAD2B):c.1258T>C:p.Cys420Arg	coding	Pathogenic
1	153813428	C	T	C153813428T	GATAD2B	NM_020699.4(GATAD2B):c.1241G>A:p.Arg414Gln	coding	Pathogenic/Likely_pathogenic
1	153813440	G	C	G153813440C	GATAD2B	NM_020699.4(GATAD2B):c.1229C>G:p.Ala410Gly	coding	Benign/Likely_benign
1	153813454	T	C	T153813454C	GATAD2B	NM_020699.4(GATAD2B):c.1217-2A>G	noncoding	Pathogenic
1	153816414	G	A	G153816414A	GATAD2B	NM_020699.4(GATAD2B):c.1075C>T:p.Gln359Ter	coding	Pathogenic
1	153816444	G	A	G153816444A	GATAD2B	NM_020699.4(GATAD2B):c.1045C>T:p.Gln349Ter	coding	Pathogenic
1	153816451	G	A	G153816451A	GATAD2B	NM_020699.4(GATAD2B):c.1038C>T:p.Ala346=	coding	Benign
1	153816516	G	A	G153816516A	GATAD2B	NM_020699.4(GATAD2B):c.973C>T:p.Gln325Ter	coding	Pathogenic
1	153817377	G	A	G153817377A	GATAD2B	NM_020699.4(GATAD2B):c.895C>T:p.Gln299Ter	coding	Pathogenic
1	153817420	A	G	A153817420G	GATAD2B	NM_020699.4(GATAD2B):c.852T>C:p.Leu284=	coding	Benign
1	153818060	G	A	G153818060A	GATAD2B	NM_020699.4(GATAD2B):c.709C>T:p.Gln237Ter	coding	Pathogenic
1	153818075	G	A	G153818075A	GATAD2B	NM_020699.4(GATAD2B):c.694C>T:p.Gln232Ter	coding	Pathogenic
1	153818093	G	C	G153818093C	GATAD2B	NM_020699.4(GATAD2B):c.676C>G:p.Pro226Ala	coding	Benign/Likely_benign
1	153818111	G	A	G153818111A	GATAD2B	NM_020699.4(GATAD2B):c.658C>T:p.Gln220Ter	coding	Pathogenic
1	153818114	G	A	G153818114A	GATAD2B	NM_020699.4(GATAD2B):c.655C>T:p.Gln219Ter	coding	Pathogenic
1	153818814	G	A	G153818814A	GATAD2B	NM_020699.4(GATAD2B):c.574C>T:p.Gln192Ter	coding	Pathogenic
1	153818849	A	G	A153818849G	GATAD2B	NM_020699.4(GATAD2B):c.539T>C:p.Leu180Pro	coding	Pathogenic
1	153818853	G	A	G153818853A	GATAD2B	NM_020699.4(GATAD2B):c.535C>T:p.Arg179Ter	coding	Pathogenic
1	153818868	G	A	G153818868A	GATAD2B	NM_020699.4(GATAD2B):c.520C>T:p.Arg174Ter	coding	Pathogenic
1	153819706	G	C	G153819706C	GATAD2B	NM_020699.4(GATAD2B):c.365C>G:p.Ser122Ter	coding	Pathogenic
1	153819725	G	A	G153819725A	GATAD2B	NM_020699.4(GATAD2B):c.346C>T:p.Arg116Ter	coding	Pathogenic
1	153828011	A	C	A153828011C	GATAD2B	NM_020699.4(GATAD2B):c.335+2T>G	noncoding	Pathogenic
1	153828012	C	A	C153828012A	GATAD2B	NM_020699.4(GATAD2B):c.335+1G>T	noncoding	Pathogenic
1	153828012	C	T	C153828012T	GATAD2B	NM_020699.4(GATAD2B):c.335+1G>A	noncoding	Pathogenic
1	153977207	G	A	G153977207A	JTB	NM_006694.4(JTB):c.46C>T:p.Leu16Phe	coding	Benign
1	153991107	C	T	C153991107T	RPS27	NM_001030.6(RPS27):c.7-8C>T	noncoding	Benign
1	153991591	T	C	T153991591C	RPS27	NM_001030.6(RPS27):c.141T>C:p.Phe47=	coding	Benign
1	154162081	A	C	A154162081C	TPM3	NM_152263.4(TPM3):c.*5856T>G	coding	Benign
1	154162788	C	T	C154162788T	TPM3	NM_152263.4(TPM3):c.*5149G>A	coding	Benign/Likely_benign
1	154164115	C	A	C154164115A	TPM3	NM_152263.4(TPM3):c.*3822G>T	coding	Benign
1	154165868	G	A	G154165868A	TPM3	NM_152263.4(TPM3):c.*2069C>T	coding	Benign
1	154166146	C	T	C154166146T	TPM3	NM_152263.4(TPM3):c.*1791G>A	coding	Benign
1	154166646	T	C	T154166646C	TPM3	NM_152263.4(TPM3):c.*1291A>G	coding	Benign
1	154167059	T	C	T154167059C	TPM3	NM_152263.4(TPM3):c.*878A>G	coding	Benign/Likely_benign
1	154169432	A	G	A154169432G	TPM3	NM_152263.4(TPM3):c.776-49T>C	noncoding	Benign
1	154170417	G	T	G154170417T	TPM3	NM_152263.4(TPM3):c.758C>A:p.Thr253Lys	coding	Pathogenic
1	154170442	T	C	T154170442C	TPM3	NM_152263.4(TPM3):c.733A>G:p.Arg245Gly	coding	Pathogenic
1	154170454	C	T	C154170454T	TPM3	NM_152263.4(TPM3):c.721G>A:p.Glu241Lys	coding	Pathogenic
1	154172890	G	C	G154172890C	TPM3	NM_152263.4(TPM3):c.566+18C>G	noncoding	Benign
1	154172927	G	A	G154172927A	TPM3	NM_152263.4(TPM3):c.547C>T:p.Arg183Ter	coding	Pathogenic
1	154172969	T	C	T154172969C	TPM3	NM_152263.4(TPM3):c.505A>G:p.Lys169Glu	coding	Pathogenic
1	154172971	C	T	C154172971T	TPM3	NM_152263.4(TPM3):c.503G>A:p.Arg168His	coding	Pathogenic
1	154172972	G	A	G154172972A	TPM3	NM_152263.4(TPM3):c.502C>T:p.Arg168Cys	coding	Pathogenic
1	154172972	G	C	G154172972C	TPM3	NM_152263.4(TPM3):c.502C>G:p.Arg168Gly	coding	Pathogenic/Likely_pathogenic
1	154173056	C	G	C154173056G	TPM3	NM_152263.4(TPM3):c.495+28G>C	noncoding	Benign
1	154176194	G	T	G154176194T	TPM3	NM_152263.4(TPM3):c.298C>A:p.Leu100Met	coding	Pathogenic
1	154176220	C	G	C154176220G	TPM3	NM_152263.4(TPM3):c.272G>C:p.Arg91Pro	coding	Pathogenic
1	154191050	G	C	G154191050C	TPM3	NM_152263.4(TPM3):c.243+136C>G	noncoding	Benign
1	154191925	G	A	G154191925A	TPM3	NM_152263.4(TPM3):c.94C>T:p.Gln32Ter	coding	Pathogenic
1	154191927	T	G	T154191927G	TPM3	NM_152263.4(TPM3):c.92A>C:p.Lys31Thr	coding	Benign/Likely_benign
1	154191993	A	C	A154191993C	TPM3	NM_152263.4(TPM3):c.26T>G:p.Met9Arg	coding	Pathogenic
1	154251328	C	A	C154251328A	UBAP2L	NM_014847.4(UBAP2L):c.1491+10C>A	noncoding	Benign
1	154261645	G	A	G154261645A	UBAP2L	NM_014847.4(UBAP2L):c.2850G>A:p.Ser950=	coding	Benign
1	154272666	T	G	T154272666G	HAX1	NM_006118.3(HAX1):c.-58T>G	noncoding	Benign
1	154272672	G	T	G154272672T	HAX1	NM_006118.3(HAX1):c.-52G>T	noncoding	Benign
1	154272790	C	T	C154272790T	HAX1	NM_006118.3(HAX1):c.53+14C>T	noncoding	Benign/Likely_benign
1	154273441	T	C	T154273441C	HAX1	NM_006118.3(HAX1):c.159T>C:p.Ser53=	coding	Benign/Likely_benign
1	154273489	A	T	A154273489T	HAX1	NM_006118.3(HAX1):c.207A>T:p.Pro69=	coding	Benign/Likely_benign
1	154273538	C	T	C154273538T	HAX1	NM_006118.3(HAX1):c.256C>T:p.Arg86Ter	coding	Pathogenic
1	154273794	G	T	G154273794T	HAX1	NM_006118.4(HAX1):c.337G>T:p.Glu113Ter	coding	Pathogenic
1	154273840	C	G	C154273840G	HAX1	NM_006118.3(HAX1):c.383C>G:p.Ser128Ter	coding	Pathogenic
1	154274959	G	A	G154274959A	HAX1	NM_006118.3(HAX1):c.514G>A:p.Val172Ile	coding	Benign/Likely_benign
1	154275165	C	T	C154275165T	HAX1	NM_006118.3(HAX1):c.568C>T:p.Gln190Ter	coding	Pathogenic
1	154321270	A	G	A154321270G	AQP10	NM_080429.3(AQP10):c.105+10A>G	noncoding	Benign
1	154340959	C	T	C154340959T	ATP8B2	NM_001370597.1(ATP8B2):c.1140C>T:p.Asn380=	coding	Benign
1	154343547	C	T	C154343547T	ATP8B2	NM_001370597.1(ATP8B2):c.1737C>T:p.Asn579=	coding	Benign
1	154429236	C	T	C154429236T	IL6R	NM_000565.4(IL6R):c.126C>T:p.Ser42=	coding	Benign
1	154435039	C	T	C154435039T	IL6R	NM_000565.4(IL6R):c.690C>T:p.Asn230=	coding	Benign
1	154435997	T	A	T154435997A	IL6R	NM_000565.4(IL6R):c.836T>A:p.Ile279Asn	coding	Pathogenic
1	154465365	C	T	C154465365T	IL6R	NM_000565.4(IL6R):c.1392C>T:p.Tyr464=	coding	Benign
1	154567831	A	G	A154567831G	CHRNB2	NM_000748.3(CHRNB2):c.-214A>G	noncoding	Benign
1	154567990	C	T	C154567990T	CHRNB2	NM_000748.3(CHRNB2):c.-55C>T	noncoding	Benign
1	154567996	G	C	G154567996C	CHRNB2	NM_000748.3(CHRNB2):c.-49G>C	noncoding	Benign
1	154568241	A	G	A154568241G	CHRNB2	NM_000748.3(CHRNB2):c.64+133A>G	noncoding	Benign
1	154569474	C	T	C154569474T	CHRNB2	NM_000748.3(CHRNB2):c.77C>T:p.Thr26Met	coding	Benign/Likely_benign
1	154569506	C	T	C154569506T	CHRNB2	NM_000748.3(CHRNB2):c.109C>T:p.Leu37=	coding	Benign/Likely_benign
1	154569547	C	T	C154569547T	CHRNB2	NM_000748.3(CHRNB2):c.150C>T:p.Thr50=	coding	Benign/Likely_benign
1	154569616	A	G	A154569616G	CHRNB2	NM_000748.3(CHRNB2):c.210+9A>G	noncoding	Benign
1	154569843	G	C	G154569843C	CHRNB2	NM_000748.3(CHRNB2):c.255+7G>C	noncoding	Benign
1	154570217	C	T	C154570217T	CHRNB2	NM_000748.3(CHRNB2):c.256-41C>T	noncoding	Benign
1	154570299	T	C	T154570299C	CHRNB2	NM_000748.3(CHRNB2):c.297T>C:p.Phe99=	coding	Benign/Likely_benign
1	154571030	A	G	A154571030G	CHRNB2	NM_000748.3(CHRNB2):c.366-159A>G	noncoding	Benign
1	154571195	C	T	C154571195T	CHRNB2	NM_000748.3(CHRNB2):c.372C>T:p.Asp124=	coding	Benign/Likely_benign
1	154571306	C	T	C154571306T	CHRNB2	NM_000748.3(CHRNB2):c.483C>T:p.His161=	coding	Benign
1	154571595	C	T	C154571595T	CHRNB2	NM_000748.3(CHRNB2):c.772C>T:p.Leu258=	coding	Benign/Likely_benign
1	154571682	G	A	G154571682A	CHRNB2	NM_000748.3(CHRNB2):c.859G>A:p.Val287Met	coding	Pathogenic
1	154571682	G	C	G154571682C	CHRNB2	NM_000748.3(CHRNB2):c.859G>C:p.Val287Leu	coding	Pathogenic
1	154571682	G	T	G154571682T	CHRNB2	NM_000748.3(CHRNB2):c.859G>T:p.Val287Leu	coding	Pathogenic
1	154571724	C	G	C154571724G	CHRNB2	NM_000748.3(CHRNB2):c.901C>G:p.Leu301Val	coding	Pathogenic
1	154571759	C	G	C154571759G	CHRNB2	NM_000748.3(CHRNB2):c.936C>G:p.Ile312Met	coding	Pathogenic
1	154571833	T	G	T154571833G	CHRNB2	NM_000748.3(CHRNB2):c.1010T>G:p.Val337Gly	coding	Pathogenic
1	154571951	C	T	C154571951T	CHRNB2	NM_000748.3(CHRNB2):c.1128C>T:p.Leu376=	coding	Benign/Likely_benign
1	154572056	G	A	G154572056A	CHRNB2	NM_000748.3(CHRNB2):c.1233G>A:p.Ala411=	coding	Benign/Likely_benign
1	154572175	G	T	G154572175T	CHRNB2	NM_000748.3(CHRNB2):c.1338+14G>T	noncoding	Benign
1	154572406	A	G	A154572406G	CHRNB2	NM_000748.3(CHRNB2):c.1338+245A>G	noncoding	Benign
1	154575746	C	T	C154575746T	CHRNB2	NM_000748.3(CHRNB2):c.1339-16C>T	noncoding	Benign
1	154575830	C	G	C154575830G	CHRNB2	NM_000748.3(CHRNB2):c.1407C>G:p.Val469=	coding	Benign
1	154575855	T	C	T154575855C	CHRNB2	NM_000748.3(CHRNB2):c.1432T>C:p.Phe478Leu	coding	Benign/Likely_benign
1	154575905	A	G	A154575905G	CHRNB2	NM_000748.3(CHRNB2):c.1482A>G:p.Ser494=	coding	Benign/Likely_benign
1	154582163	C	T	C154582163T	ADAR	NM_001111.5(ADAR):c.*2643G>A	noncoding	Benign
1	154582183	G	A	G154582183A	ADAR	NM_001111.5(ADAR):c.*2623C>T	noncoding	Benign
1	154582607	G	A	G154582607A	ADAR	NM_001111.5(ADAR):c.*2199C>T	noncoding	Benign
1	154582773	C	T	C154582773T	ADAR	NM_001111.5(ADAR):c.*2033G>A	noncoding	Benign
1	154583016	T	C	T154583016C	ADAR	NM_001111.5(ADAR):c.*1790A>G	noncoding	Benign
1	154583192	A	T	A154583192T	ADAR	NM_001111.5(ADAR):c.*1614T>A	noncoding	Benign
1	154583257	A	T	A154583257T	ADAR	NM_001111.5(ADAR):c.*1549T>A	noncoding	Benign
1	154583370	C	A	C154583370A	ADAR	NM_001111.5(ADAR):c.*1436G>T	noncoding	Benign
1	154583564	T	G	T154583564G	ADAR	NM_001111.5(ADAR):c.*1242A>C	noncoding	Benign
1	154583790	G	A	G154583790A	ADAR	NM_001111.5(ADAR):c.*1016C>T	noncoding	Benign
1	154583863	G	T	G154583863T	ADAR	NM_001111.5(ADAR):c.*943C>A	noncoding	Benign
1	154583868	T	G	T154583868G	ADAR	NM_001111.5(ADAR):c.*938A>C	noncoding	Benign
1	154583908	C	T	C154583908T	ADAR	NM_001111.5(ADAR):c.*898G>A	noncoding	Benign
1	154583949	G	A	G154583949A	ADAR	NM_001111.5(ADAR):c.*857C>T	noncoding	Benign
1	154584187	G	A	G154584187A	ADAR	NM_001111.5(ADAR):c.*619C>T	noncoding	Benign
1	154584393	T	A	T154584393A	ADAR	NM_001111.5(ADAR):c.*413A>T	noncoding	Benign
1	154584438	C	T	C154584438T	ADAR	NM_001111.5(ADAR):c.*368G>A	noncoding	Benign
1	154584561	A	G	A154584561G	ADAR	NM_001111.5(ADAR):c.*245T>C	noncoding	Benign
1	154584781	C	G	C154584781G	ADAR	NM_001111.5(ADAR):c.*25G>C	noncoding	Benign
1	154584964	T	G	T154584964G	ADAR	NM_001111.5(ADAR):c.3523A>C:p.Arg1175=	coding	Benign
1	154584993	A	G	A154584993G	ADAR	NM_001111.5(ADAR):c.3494T>C:p.Phe1165Ser	coding	Pathogenic
1	154585209	C	T	C154585209T	ADAR	NM_001111.5(ADAR):c.3443+8G>A	noncoding	Benign
1	154585323	C	G	C154585323G	ADAR	NM_001111.5(ADAR):c.3337G>C:p.Asp1113His	coding	Pathogenic/Likely_pathogenic
1	154585325	T	A	T154585325A	ADAR	NM_001111.5(ADAR):c.3335A>T:p.Tyr1112Phe	coding	Pathogenic/Likely_pathogenic
1	154585782	G	A	G154585782A	ADAR	NM_001111.5(ADAR):c.3286C>T:p.Arg1096Ter	coding	Pathogenic/Likely_pathogenic
1	154588125	C	T	C154588125T	ADAR	NM_001111.5(ADAR):c.3019G>A:p.Gly1007Arg	coding	Pathogenic/Likely_pathogenic
1	154588147	C	A	C154588147A	ADAR	NM_001111.5(ADAR):c.2997G>T:p.Lys999Asn	coding	Pathogenic/Likely_pathogenic
1	154588549	A	G	A154588549G	ADAR	NM_001111.5(ADAR):c.2885+2T>C	noncoding	Pathogenic
1	154588582	T	A	T154588582A	ADAR	NM_001111.5(ADAR):c.2854A>T:p.Lys952Ter	coding	Pathogenic
1	154588668	A	G	A154588668G	ADAR	NM_001111.5(ADAR):c.2768T>C:p.Leu923Pro	coding	Pathogenic
1	154589411	T	C	T154589411C	ADAR	NM_001111.5(ADAR):c.2720A>G:p.Asn907Ser	coding	Pathogenic
1	154589449	C	T	C154589449T	ADAR	NM_001111.5(ADAR):c.2682G>A:p.Val894=	coding	Benign
1	154589456	C	T	C154589456T	ADAR	NM_001111.5(ADAR):c.2675G>A:p.Arg892His	coding	Pathogenic/Likely_pathogenic
1	154589463	C	G	C154589463G	ADAR	NM_001111.5(ADAR):c.2669-1G>C	coding	Pathogenic
1	154589810	A	G	A154589810G	ADAR	NM_001111.5(ADAR):c.2615T>C:p.Ile872Thr	coding	Pathogenic/Likely_pathogenic
1	154589817	C	T	C154589817T	ADAR	NM_001111.5(ADAR):c.2608G>A:p.Ala870Thr	coding	Pathogenic/Likely_pathogenic
1	154589872	G	A	G154589872A	ADAR	NM_001111.5(ADAR):c.2553C>T:p.Cys851=	coding	Benign/Likely_benign
1	154589943	G	A	G154589943A	ADAR	NM_001111.5(ADAR):c.2497-15C>T	noncoding	Benign
1	154590175	C	T	C154590175T	ADAR	NM_001111.5(ADAR):c.2496+9G>A	noncoding	Benign
1	154590176	G	A	G154590176A	ADAR	NM_001111.5(ADAR):c.2496+8C>T	noncoding	Benign
1	154590361	G	A	G154590361A	ADAR	NM_001111.5(ADAR):c.2319C>T:p.Cys773=	coding	Benign
1	154597125	G	A	G154597125A	ADAR	NM_001111.5(ADAR):c.2077C>T:p.Gln693Ter	coding	Pathogenic
1	154597816	C	T	C154597816T	ADAR	NM_001111.5(ADAR):c.1934+12G>A	noncoding	Benign
1	154597820	G	A	G154597820A	ADAR	NM_001111.5(ADAR):c.1934+8C>T	noncoding	Benign/Likely_benign
1	154597836	A	G	A154597836G	ADAR	NM_001111.5(ADAR):c.1926T>C:p.His642=	coding	Benign
1	154597911	G	T	G154597911T	ADAR	NM_001111.5(ADAR):c.1851C>A:p.Thr617=	coding	Benign
1	154598397	C	T	C154598397T	ADAR	NM_001111.5(ADAR):c.1785+5G>A	noncoding	Benign
1	154598427	T	C	T154598427C	ADAR	NM_001111.5(ADAR):c.1760A>G:p.Tyr587Cys	coding	Benign/Likely_benign
1	154598512	G	A	G154598512A	ADAR	NM_001111.5(ADAR):c.1675C>T:p.Gln559Ter	coding	Pathogenic
1	154598557	G	A	G154598557A	ADAR	NM_001111.5(ADAR):c.1630C>T:p.Arg544Ter	coding	Pathogenic
1	154601065	T	C	T154601065C	ADAR	NM_001111.5(ADAR):c.1577A>G:p.Gln526Arg	coding	Benign
1	154601222	G	A	G154601222A	ADAR	NM_001111.5(ADAR):c.1420C>T:p.Arg474Ter	coding	Pathogenic
1	154601491	T	C	T154601491C	ADAR	NM_001111.5(ADAR):c.1151A>G:p.Lys384Arg	coding	Benign
1	154601639	T	A	T154601639A	ADAR	NM_001111.5(ADAR):c.1003A>T:p.Ile335Phe	coding	Benign/Likely_benign
1	154601870	C	T	C154601870T	ADAR	NM_001111.5(ADAR):c.772G>A:p.Gly258Arg	coding	Benign/Likely_benign
1	154602344	T	C	T154602344C	ADAR	NM_001111.5(ADAR):c.298A>G:p.Arg100Gly	coding	Benign
1	154602564	C	T	C154602564T	ADAR	NM_001111.5(ADAR):c.78G>A:p.Arg26=	coding	Benign
1	154602585	G	A	G154602585A	ADAR	NM_001111.5(ADAR):c.57C>T:p.Gly19=	coding	Benign
1	154607982	C	A	C154607982A	ADAR	NM_001111.5(ADAR):c.15+10G>T	noncoding	Benign
1	154608054	T	C	T154608054C	ADAR	NM_001111.5(ADAR):c.-48A>G	noncoding	Benign
1	154608157	T	C	T154608157C	ADAR	NM_001111.5(ADAR):c.-151A>G	noncoding	Benign
1	154772117	T	A	T154772117A	KCNN3	NM_002249.6(KCNN3):c.1306A>T:p.Ser436Cys	coding	Pathogenic
1	154772331	C	G	C154772331G	KCNN3	NM_002249.6(KCNN3):c.1092G>C:p.Leu364=	coding	Benign
1	154772374	C	T	C154772374T	KCNN3	NM_002249.6(KCNN3):c.1049G>A:p.Gly350Asp	coding	Pathogenic
1	154772376	A	G	A154772376G	KCNN3	NM_002249.6(KCNN3):c.1047T>C:p.Asn349=	coding	Benign
1	154869160	T	C	T154869160C	KCNN3	NM_002249.6(KCNN3):c.805A>G:p.Lys269Glu	coding	Pathogenic
1	154926384	G	A	G154926384A	PMVK	NM_006556.4(PMVK):c.412C>T:p.Arg138Ter	coding	Pathogenic
1	154983248	C	T	C154983248T	FLAD1	NC_000001.11:g.154983248C>T	noncoding	Benign
1	154987406	A	G	A154987406G	FLAD1	NM_025207.5(FLAD1):c.373-699A>G	noncoding	Benign
1	154987543	T	G	T154987543G	FLAD1	NM_025207.5(FLAD1):c.373-562T>G	coding	Benign
1	154988140	C	A	C154988140A	FLAD1	NM_025207.5(FLAD1):c.408C>A:p.Cys136Ter	coding	Pathogenic
1	154988461	C	T	C154988461T	FLAD1	NM_025207.5(FLAD1):c.729C>T:p.Phe243=	coding	Benign/Likely_benign
1	154988477	C	T	C154988477T	FLAD1	NM_025207.5(FLAD1):c.745C>T:p.Arg249Ter	coding	Pathogenic
1	154989626	G	A	G154989626A	FLAD1	NM_025207.5(FLAD1):c.1184G>A:p.Ser395Asn	coding	Benign/Likely_benign
1	154992637	G	T	G154992637T	FLAD1	NM_025207.5(FLAD1):c.1555-76G>T	noncoding	Benign
1	154992733	C	A	C154992733A	FLAD1	NM_025207.5(FLAD1):c.1575C>A:p.Ile525=	coding	Benign
1	154992746	C	T	C154992746T	FLAD1	NM_025207.5(FLAD1):c.1588C>T:p.Arg530Cys	coding	Pathogenic
1	155015230	G	A	G155015230A	ZBTB7B	NM_001252406.2(ZBTB7B):c.672G>A:p.Pro224=	coding	Benign
1	155015779	C	A	C155015779A	ZBTB7B	NM_001252406.2(ZBTB7B):c.1221C>A:p.Pro407=	coding	Benign
1	155040566	C	T	C155040566T	DCST1	NM_152494.4(DCST1):c.473C>T:p.Thr158Ile	coding	Benign
1	155041461	C	T	C155041461T	DCST1	NM_152494.4(DCST1):c.596C>T:p.Ala199Val	coding	Benign
1	155043423	C	T	C155043423T	DCST1	NM_152494.4(DCST1):c.1086C>T:p.Tyr362=	coding	Benign
1	155055974	C	A	C155055974A	ADAM15	NM_207197.3(ADAM15):c.718C>A:p.Leu240Met	coding	Benign
1	155058704	G	T	G155058704T	ADAM15	NM_207197.3(ADAM15):c.1918-6G>T	noncoding	Benign
1	155066988	C	T	C155066988T	EFNA4	NM_005227.3(EFNA4):c.372C>T:p.Phe124=	coding	Benign
1	155085361	T	G	T155085361G	EFNA3	NM_004952.5(EFNA3):c.399T>G:p.Ser133=	coding	Benign
1	155139987	A	G	A155139987G	DPM3	NM_153741.2(DPM3):c.254T>C:p.Leu85Ser	coding	Pathogenic
1	155139987	A	T	A155139987T	DPM3	NM_153741.2(DPM3):c.254T>A:p.Leu85Ter	coding	Pathogenic
1	155140117	G	C	G155140117C	DPM3	NM_153741.2(DPM3):c.124C>G:p.Pro42Ala	coding	Pathogenic/Likely_pathogenic
1	155140181	G	A	G155140181A	DPM3	NM_153741.2(DPM3):c.60C>T:p.Ala20=	coding	Benign/Likely_benign
1	155140200	A	G	A155140200G	DPM3	NM_153741.2(DPM3):c.41T>C:p.Leu14Pro	coding	Pathogenic
1	155179729	C	T	C155179729T	TRIM46	NM_025058.5(TRIM46):c.1383C>T:p.His461=	coding	Benign
1	155208991	T	A	T155208991A	MTX1	NM_002455.4(MTX1):c.187T>A:p.Ser63Thr	coding	Benign
1	155235002	C	T	C155235002T	GBA	NM_000157.4(GBA):c.1604G>A:p.Arg535His	coding	Pathogenic
1	155235003	G	A	G155235003A	GBA	NM_000157.4(GBA):c.1603C>T:p.Arg535Cys	coding	Pathogenic
1	155235007	C	T	C155235007T	GBA	NM_000157.4(GBA):c.1599G>A:p.Trp533Ter	coding	Pathogenic
1	155235057	C	T	C155235057T	GBA	NM_000157.4(GBA):c.1549G>A:p.Gly517Ser	coding	Pathogenic
1	155235101	C	T	C155235101T	GBA	NM_000157.4(GBA):c.1506-1G>A	coding	Pathogenic
1	155235196	G	A	G155235196A	GBA	NM_000157.4(GBA):c.1504C>T:p.Arg502Cys	coding	Pathogenic
1	155235203	C	G	C155235203G	GBA	NM_000157.4(GBA):c.1497G>C:p.Val499=	coding	Benign/Likely_benign
1	155235217	C	G	C155235217G	GBA	NM_000157.4(GBA):c.1483G>C:p.Ala495Pro	coding	Benign
1	155235252	A	C	A155235252C	GBA	NM_000157.4(GBA):c.1448T>G:p.Leu483Arg	coding	Pathogenic/Likely_pathogenic
1	155235679	A	G	A155235679G	GBA	NM_000157.4(GBA):c.1388+2T>C	noncoding	Pathogenic
1	155235708	G	C	G155235708C	GBA	NM_000157.4(GBA):c.1361C>G:p.Pro454Arg	coding	Pathogenic
1	155235712	G	A	G155235712A	GBA	NM_000157.4(GBA):c.1357C>T:p.Gln453Ter	coding	Pathogenic
1	155235721	A	T	A155235721T	GBA	NM_000157.4(GBA):c.1348T>A:p.Phe450Ile	coding	Pathogenic
1	155235727	C	G	C155235727G	GBA	NM_000157.4(GBA):c.1342G>C:p.Asp448His	coding	Pathogenic/Likely_pathogenic
1	155235750	G	A	G155235750A	GBA	NM_000157.4(GBA):c.1319C>T:p.Pro440Leu	coding	Pathogenic
1	155235757	C	T	C155235757T	GBA	NM_000157.4(GBA):c.1312G>A:p.Asp438Asn	coding	Pathogenic
1	155235760	C	A	C155235760A	GBA	NM_000157.4(GBA):c.1309G>T:p.Val437Phe	coding	Pathogenic
1	155235772	C	A	C155235772A	GBA	NM_000157.4(GBA):c.1297G>T:p.Val433Leu	coding	Pathogenic/Likely_pathogenic
1	155235775	A	T	A155235775T	GBA;LOC106627981	NM_000157.4(GBA):c.1294T>A:p.Trp432Arg	coding	Pathogenic
1	155235780	G	A	G155235780A	GBA	NM_000157.4(GBA):c.1289C>T:p.Pro430Leu	coding	Pathogenic
1	155235823	C	T	C155235823T	GBA	NM_000157.4(GBA):c.1246G>A:p.Gly416Ser	coding	Pathogenic
1	155235829	C	A	C155235829A	GBA	NM_000157.4(GBA):c.1240G>T:p.Val414Leu	coding	Pathogenic/Likely_pathogenic
1	155235841	G	C	G155235841C	GBA	NM_000157.4(GBA):c.1228C>G:p.Leu410Val	coding	Pathogenic
1	155235843	T	G	T155235843G	GBA	NM_000157.4(GBA):c.1226A>C:p.Asn409Thr	coding	Pathogenic
1	155235878	G	T	G155235878T	GBA	NM_000157.4(GBA):c.1225-34C>A	noncoding	Benign
1	155236261	C	G	C155236261G	GBA	NM_000157.4(GBA):c.1208G>C:p.Ser403Thr	coding	Pathogenic/Likely_pathogenic
1	155236277	G	A	G155236277A	GBA	NM_000157.4(GBA):c.1192C>T:p.Arg398Ter	coding	Pathogenic
1	155236285	G	A	G155236285A	GBA	NM_000157.4(GBA):c.1184C>T:p.Ser395Phe	coding	Pathogenic
1	155236295	G	A	G155236295A	GBA	NM_000157.4(GBA):c.1174C>T:p.Arg392Trp	coding	Pathogenic
1	155236295	G	C	G155236295C	GBA	NM_000157.4(GBA):c.1174C>G:p.Arg392Gly	coding	Pathogenic
1	155236298	C	G	C155236298G	GBA	NM_000157.4(GBA):c.1171G>C:p.Val391Leu	coding	Pathogenic/Likely_pathogenic
1	155236328	A	C	A155236328C	GBA	NM_000157.4(GBA):c.1141T>G:p.Cys381Gly	coding	Pathogenic
1	155236384	G	A	G155236384A	GBA	NM_000157.4(GBA):c.1085C>T:p.Thr362Ile	coding	Pathogenic
1	155236416	C	A	C155236416A	GBA	NM_000157.4(GBA):c.1053G>T:p.Trp351Cys	coding	Pathogenic
1	155236420	T	C	T155236420C	GBA	NM_000157.4(GBA):c.1049A>G:p.His350Arg	coding	Pathogenic
1	155236426	G	A	G155236426A	GBA	NM_000157.4(GBA):c.1043C>T:p.Ala348Val	coding	Pathogenic
1	155236550	T	G	T155236550G	GBA	NM_000157.4(GBA):c.1000-81A>C	noncoding	Benign
1	155237357	G	A	G155237357A	GBA	NM_000157.4(GBA):c.983C>T:p.Pro328Leu	coding	Pathogenic
1	155237370	G	A	G155237370A	GBA	NM_000157.4(GBA):c.970C>T:p.Arg324Cys	coding	Pathogenic
1	155237412	T	C	T155237412C	GBA	NM_000157.4(GBA):c.928A>G:p.Ser310Gly	coding	Pathogenic/Likely_pathogenic
1	155237453	C	T	C155237453T	GBA	NM_000157.4(GBA):c.887G>A:p.Arg296Gln	coding	Pathogenic
1	155237454	G	A	G155237454A	GBA	NM_000157.4(GBA):c.886C>T:p.Arg296Ter	coding	Pathogenic
1	155237470	G	T	G155237470T	GBA	NM_000157.4(GBA):c.870C>A:p.Phe290Leu	coding	Pathogenic
1	155237576	A	T	A155237576T	GBA	NM_000157.4(GBA):c.764T>A:p.Phe255Tyr	coding	Pathogenic/Likely_pathogenic
1	155237577	A	C	A155237577C	GBA	NM_000157.4(GBA):c.763T>G:p.Phe255Val	coding	Pathogenic
1	155237579	C	G	C155237579G	GBA	NM_000157.4(GBA):c.762-1G>C	coding	Pathogenic
1	155238141	A	T	A155238141T	GBA	NM_000157.4(GBA):c.754T>A:p.Phe252Ile	coding	Pathogenic
1	155238174	C	T	C155238174T	GBA	NM_000157.4(GBA):c.721G>A:p.Gly241Arg	coding	Pathogenic
1	155238186	T	C	T155238186C	GBA	NM_000157.4(GBA):c.709A>G:p.Lys237Glu	coding	Pathogenic
1	155238192	A	G	A155238192G	GBA	NM_000157.4(GBA):c.703T>C:p.Ser235Pro	coding	Pathogenic
1	155238194	C	T	C155238194T	GBA	NM_000157.4(GBA):c.701G>A:p.Gly234Glu	coding	Pathogenic
1	155238214	A	C	A155238214C	GBA	NM_000157.4(GBA):c.681T>G:p.Asn227Lys	coding	Pathogenic
1	155238215	T	C	T155238215C	GBA	NM_000157.4(GBA):c.680A>G:p.Asn227Ser	coding	Pathogenic/Likely_pathogenic
1	155238228	A	G	A155238228G	GBA	NM_000157.4(GBA):c.667T>C:p.Trp223Arg	coding	Pathogenic/Likely_pathogenic
1	155238242	C	T	C155238242T	GBA	NM_000157.4(GBA):c.653G>A:p.Trp218Ter	coding	Pathogenic
1	155238270	G	A	G155238270A	GBA	NM_000157.4(GBA):c.625C>T:p.Arg209Cys	coding	Pathogenic
1	155238290	C	T	C155238290T	GBA	NM_000157.4(GBA):c.605G>A:p.Arg202Gln	coding	Benign
1	155238392	T	C	T155238392C	GBA	NM_000157.4(GBA):c.589-86A>G	noncoding	Benign
1	155238519	T	G	T155238519G	GBA	NM_000157.4(GBA):c.586A>C:p.Lys196Gln	coding	Pathogenic
1	155238525	T	A	T155238525A	GBA	NM_000157.4(GBA):c.580A>T:p.Lys194Ter	coding	Pathogenic
1	155238579	C	T	C155238579T	GBA	NM_000157.4(GBA):c.526G>A:p.Asp176Asn	coding	Pathogenic
1	155238596	C	A	C155238596A	GBA	NM_000157.4(GBA):c.509G>T:p.Arg170Leu	coding	Pathogenic/Likely_pathogenic
1	155238597	G	A	G155238597A	GBA	NM_000157.4(GBA):c.508C>T:p.Arg170Cys	coding	Pathogenic
1	155238624	G	A	G155238624A	GBA	NM_000157.4(GBA):c.481C>T:p.Pro161Ser	coding	Pathogenic
1	155238630	G	A	G155238630A	GBA	NM_000157.4(GBA):c.475C>T:p.Arg159Trp	coding	Pathogenic
1	155239569	C	T	C155239569T	GBA	NM_000157.4(GBA):c.454+47G>A	noncoding	Benign
1	155239716	C	G	C155239716G	GBA	NM_000157.4(GBA):c.354G>C:p.Lys118Asn	coding	Pathogenic
1	155239736	G	A	G155239736A	GBA	NM_000157.4(GBA):c.334C>T:p.Gln112Ter	coding	Pathogenic
1	155239934	G	A	G155239934A	GBA	NM_000157.4(GBA):c.259C>T:p.Arg87Trp	coding	Pathogenic
1	155239939	C	T	C155239939T	GBA	NM_000157.4(GBA):c.254G>A:p.Gly85Glu	coding	Pathogenic
1	155240033	C	A	C155240033A	GBA	NM_000157.4(GBA):c.160G>T:p.Val54Leu	coding	Pathogenic
1	155240629	C	T	C155240629T	GBA	NM_000157.4(GBA):c.115+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	155240637	C	T	C155240637T	GBA	NM_000157.4(GBA):c.108G>A:p.Trp36Ter	coding	Pathogenic
1	155240707	T	C	T155240707C	GBA	NM_000157.4(GBA):c.38A>G:p.Lys13Arg	coding	Benign
1	155270819	G	A	G155270819A	CLK2	NM_001294338.2(CLK2):c.159C>T:p.Val53=	coding	Benign
1	155289532	C	T	C155289532T	PKLR	NM_000298.6(PKLR):c.*1040G>A	noncoding	Benign
1	155290305	G	A	G155290305A	PKLR	NM_000298.6(PKLR):c.*267C>T	noncoding	Benign
1	155290559	A	G	A155290559G	PKLR	NM_000298.6(PKLR):c.*13T>C	noncoding	Benign
1	155290592	G	T	G155290592T	PKLR	NM_000298.6(PKLR):c.1705C>A:p.Arg569=	coding	Benign
1	155290611	G	A	G155290611A	PKLR	NM_000298.6(PKLR):c.1686C>T:p.Ser562=	coding	Benign/Likely_benign
1	155291780	G	A	G155291780A	PKLR	NM_000298.6(PKLR):c.1594C>T:p.Arg532Trp	coding	Pathogenic
1	155291845	C	T	C155291845T	PKLR	NM_000298.6(PKLR):c.1529G>A:p.Arg510Gln	coding	Pathogenic
1	155293177	C	T	C155293177T	PKLR	NM_000298.6(PKLR):c.1436G>A:p.Arg479His	coding	Pathogenic
1	155293295	C	A	C155293295A	PKLR	NM_000298.6(PKLR):c.1318G>T:p.Glu440Ter	coding	Pathogenic
1	155293438	C	T	C155293438T	PKLR	NM_000298.6(PKLR):c.1269G>A:p.Ala423=	coding	Pathogenic
1	155293446	G	T	G155293446T	PKLR	NM_000298.6(PKLR):c.1261C>A:p.Gln421Lys	coding	Pathogenic
1	155293556	G	A	G155293556A	PKLR	NM_000298.6(PKLR):c.1151C>T:p.Thr384Met	coding	Pathogenic
1	155294272	C	T	C155294272T	PKLR	NM_000298.6(PKLR):c.1079G>A:p.Cys360Tyr	coding	Pathogenic
1	155294276	G	A	G155294276A	PKLR	NM_000298.6(PKLR):c.1075C>T:p.Arg359Cys	coding	Pathogenic
1	155294357	C	T	C155294357T	PKLR	NM_000298.6(PKLR):c.994G>A:p.Gly332Ser	coding	Pathogenic
1	155294648	G	A	G155294648A	PKLR	NM_000298.6(PKLR):c.799C>T:p.Gln267Ter	coding	Pathogenic
1	155294726	C	A	C155294726A	PKLR	NM_000298.6(PKLR):c.721G>T:p.Glu241Ter	coding	Pathogenic
1	155295436	C	T	C155295436T	PKLR	NM_000298.6(PKLR):c.507+1G>A	noncoding	Pathogenic
1	155295457	G	A	G155295457A	PKLR	NM_000298.6(PKLR):c.487C>T:p.Arg163Cys	coding	Pathogenic
1	155295555	G	T	G155295555T	PKLR	NM_000298.6(PKLR):c.389C>A:p.Ser130Tyr	coding	Pathogenic
1	155295655	C	A	C155295655A	PKLR	NM_000298.6(PKLR):c.375+10G>T	noncoding	Benign/Likely_benign
1	155295709	C	T	C155295709T	PKLR	NM_000298.6(PKLR):c.331G>A:p.Gly111Arg	coding	Pathogenic
1	155300200	G	A	G155300200A	PKLR	NM_000298.6(PKLR):c.181C>T:p.Leu61=	coding	Benign/Likely_benign
1	155300212	G	A	G155300212A	PKLR	NM_000298.6(PKLR):c.169C>T:p.Gln57Ter	coding	Pathogenic
1	155300271	C	T	C155300271T	PKLR	NM_000298.6(PKLR):c.110G>A:p.Gly37Glu	coding	Pathogenic
1	155300281	C	T	C155300281T	PKLR	NM_000298.6(PKLR):c.101-1G>A	coding	Pathogenic
1	155317996	G	A	G155317996A	FDPS	NM_002004.4(FDPS):c.536G>A:p.Arg179Gln	coding	Pathogenic
1	155318292	G	A	G155318292A	FDPS	NM_002004.4(FDPS):c.684+1G>A	coding	Pathogenic
1	155342040	C	G	C155342040G	ASH1L	NM_018489.3(ASH1L):c.8356G>C:p.Ala2786Pro	coding	Pathogenic
1	155370644	C	T	C155370644T	ASH1L	NM_018489.3(ASH1L):c.6546G>A:p.Arg2182=	coding	Benign
1	155370889	C	A	C155370889A	ASH1L	NM_018489.3(ASH1L):c.6427G>T:p.Glu2143Ter	coding	Pathogenic
1	155415871	G	A	G155415871A	ASH1L	NM_018489.3(ASH1L):c.5881C>T:p.Pro1961Ser	coding	Benign
1	155438649	G	A	G155438649A	ASH1L	NM_018489.3(ASH1L):c.5506C>T:p.Gln1836Ter	coding	Pathogenic
1	155438767	C	T	C155438767T	ASH1L	NM_018489.3(ASH1L):c.5388G>A:p.Lys1796=	coding	Benign
1	155438956	A	G	A155438956G	ASH1L	NM_018489.3(ASH1L):c.5199T>C:p.Ser1733=	coding	Benign
1	155438980	C	T	C155438980T	ASH1L	NM_018489.3(ASH1L):c.5175G>A:p.Glu1725=	coding	Benign
1	155478624	A	G	A155478624G	ASH1L	NM_018489.3(ASH1L):c.4246T>C:p.Ser1416Pro	coding	Benign
1	155478670	G	A	G155478670A	ASH1L	NM_018489.3(ASH1L):c.4200C>T:p.Tyr1400=	coding	Benign
1	155479276	G	A	G155479276A	ASH1L	NM_018489.3(ASH1L):c.3594C>T:p.Pro1198=	coding	Benign
1	155480445	G	A	G155480445A	ASH1L	NM_018489.3(ASH1L):c.2425C>T:p.Leu809=	coding	Benign
1	155480540	C	T	C155480540T	ASH1L	NM_018489.3(ASH1L):c.2330G>A:p.Arg777His	coding	Benign
1	155480700	C	A	C155480700A	ASH1L	NM_018489.3(ASH1L):c.2170G>T:p.Ala724Ser	coding	Pathogenic
1	155481552	A	C	A155481552C	ASH1L	NM_018489.3(ASH1L):c.1318T>G:p.Cys440Gly	coding	Benign
1	155481928	C	T	C155481928T	ASH1L	NM_018489.3(ASH1L):c.942G>A:p.Ala314=	coding	Benign
1	155481979	T	C	T155481979C	ASH1L	NM_018489.3(ASH1L):c.891A>G:p.Val297=	coding	Benign
1	155521173	A	G	A155521173G	ASH1L	NM_018489.3(ASH1L):c.347T>C:p.Ile116Thr	coding	Benign
1	155610270	G	A	G155610270A	MSTO1	NM_001350776.1(MSTO1):c.-266G>A	coding	Pathogenic
1	155611218	A	G	A155611218G	MSTO1	NM_018116.4(MSTO1):c.293A>G:p.Gln98Arg	coding	Benign
1	155611247	C	T	C155611247T	MSTO1	NM_018116.4(MSTO1):c.322C>T:p.Leu108Phe	coding	Benign
1	155612571	G	A	G155612571A	MSTO1	NM_018116.3(MSTO1):c.966+1G>A	coding	Pathogenic
1	155612910	C	T	C155612910T	MSTO1	NM_018116.3(MSTO1):c.1033C>T:p.Arg345Cys	coding	Pathogenic
1	155613078	C	A	C155613078A	MSTO1	NM_018116.3(MSTO1):c.1128C>A:p.Phe376Leu	coding	Pathogenic
1	155613211	A	G	A155613211G	MSTO1	NM_018116.4(MSTO1):c.1261A>G:p.Ile421Val	coding	Benign
1	155613505	T	C	T155613505C	MSTO1	NM_018116.4(MSTO1):c.1327T>C:p.Cys443Arg	coding	Benign
1	155659660	A	G	A155659660G	YY1AP1	NM_001198903.1(YY1AP1):c.2664T>C:p.Leu888=	coding	Benign
1	155659923	C	A	C155659923A	YY1AP1	NM_001198906.2(YY1AP1):c.*930G>T	coding	Pathogenic
1	155659934	A	T	A155659934T	YY1AP1	NM_001198903.1(YY1AP1):c.2390T>A:p.Leu797Ter	coding	Pathogenic
1	155660173	C	T	C155660173T	YY1AP1	NM_001198903.1(YY1AP1):c.2151G>A:p.Ala717=	coding	Benign
1	155660191	C	T	C155660191T	YY1AP1	NM_001198903.1(YY1AP1):c.2133G>A:p.Met711Ile	coding	Benign
1	155660454	T	C	T155660454C	YY1AP1	NM_001198903.1(YY1AP1):c.1870A>G:p.Met624Val	coding	Benign
1	155660505	G	C	G155660505C	YY1AP1	NM_001198903.1(YY1AP1):c.1819C>G:p.Leu607Val	coding	Benign
1	155660606	T	C	T155660606C	YY1AP1	NM_001198903.1(YY1AP1):c.1718A>G:p.Gln573Arg	coding	Benign
1	155660752	C	T	C155660752T	YY1AP1	NM_001198903.1(YY1AP1):c.1572G>A:p.Lys524=	coding	Benign
1	155672537	A	C	A155672537C	YY1AP1	NM_001198903.1(YY1AP1):c.997+23T>G	noncoding	Pathogenic
1	155672732	C	T	C155672732T	YY1AP1	NM_001198903.1(YY1AP1):c.826-1G>A	coding	Pathogenic
1	155676562	G	A	G155676562A	YY1AP1	NM_001198903.1(YY1AP1):c.724C>T:p.Gln242Ter	coding	Pathogenic
1	155676622	G	A	G155676622A	YY1AP1	NM_018253.3(YY1AP1):c.217C>T:p.Gln73Ter	coding	Pathogenic
1	155688080	G	A	G155688080A	YY1AP1	NM_001198903.1(YY1AP1):c.385C>T:p.Leu129Phe	coding	Benign
1	155688099	A	G	A155688099G	YY1AP1	NM_001198903.1(YY1AP1):c.366T>C:p.Cys122=	coding	Benign
1	155688110	A	G	A155688110G	YY1AP1	NM_001198903.1(YY1AP1):c.355T>C:p.Ser119Pro	coding	Benign
1	155688145	C	T	C155688145T	YY1AP1	NM_001198903.1(YY1AP1):c.320G>A:p.Gly107Glu	coding	Benign
1	155688269	A	G	A155688269G	YY1AP1	NM_001198903.1(YY1AP1):c.196T>C:p.Ser66Pro	coding	Benign
1	155729241	G	T	G155729241T	DAP3	NM_004632.4(DAP3):c.718G>T:p.Val240Phe	coding	Benign
1	155900625	G	A	G155900625A	RIT1	NM_006912.6(RIT1):c.430-7C>T	noncoding	Benign
1	155904365	G	A	G155904365A	RIT1	NM_006912.6(RIT1):c.375C>T:p.Asp125=	coding	Benign
1	155904375	C	A	C155904375A	RIT1	NM_006912.6(RIT1):c.365G>T:p.Arg122Leu	coding	Pathogenic/Likely_pathogenic
1	155904456	C	G	C155904456G	RIT1	NM_006912.6(RIT1):c.284G>C:p.Gly95Ala	coding	Pathogenic
1	155904470	C	A	C155904470A	RIT1	NM_006912.6(RIT1):c.270G>T:p.Met90Ile	coding	Pathogenic
1	155904470	C	G	C155904470G	RIT1	NM_006912.6(RIT1):c.270G>C:p.Met90Ile	coding	Pathogenic
1	155904470	C	T	C155904470T	RIT1	NM_006912.6(RIT1):c.270G>A:p.Met90Ile	coding	Pathogenic
1	155904472	T	C	T155904472C	RIT1	NM_006912.6(RIT1):c.268A>G:p.Met90Val	coding	Pathogenic
1	155904475	A	G	A155904475G	RIT1	NM_006912.6(RIT1):c.265T>C:p.Tyr89His	coding	Pathogenic
1	155904481	C	G	C155904481G	RIT1	NM_006912.6(RIT1):c.259G>C:p.Asp87His	coding	Pathogenic
1	155904493	T	G	T155904493G	RIT1	NM_006912.6(RIT1):c.247A>C:p.Thr83Pro	coding	Pathogenic
1	155904494	A	C	A155904494C	RIT1	NM_006912.6(RIT1):c.246T>G:p.Phe82Leu	coding	Pathogenic
1	155904494	A	T	A155904494T	RIT1	NM_006912.6(RIT1):c.246T>A:p.Phe82Leu	coding	Pathogenic
1	155904495	A	C	A155904495C	RIT1	NM_006912.6(RIT1):c.245T>G:p.Phe82Cys	coding	Pathogenic
1	155904495	A	G	A155904495G	RIT1	NM_006912.6(RIT1):c.245T>C:p.Phe82Ser	coding	Pathogenic
1	155904496	A	C	A155904496C	RIT1	NM_006912.6(RIT1):c.244T>G:p.Phe82Val	coding	Pathogenic
1	155904496	A	G	A155904496G	RIT1	NM_006912.6(RIT1):c.244T>C:p.Phe82Leu	coding	Pathogenic
1	155904498	T	C	T155904498C	RIT1	NM_006912.6(RIT1):c.242A>G:p.Glu81Gly	coding	Pathogenic
1	155904499	C	G	C155904499G	RIT1	NM_006912.6(RIT1):c.241G>C:p.Glu81Gln	coding	Pathogenic
1	155904721	G	T	G155904721T	RIT1	NM_006912.6(RIT1):c.237+10C>A	noncoding	Benign/Likely_benign
1	155904738	G	C	G155904738C	RIT1	NM_006912.6(RIT1):c.230C>G:p.Ala77Gly	coding	Pathogenic
1	155904739	C	A	C155904739A	RIT1	NM_006912.6(RIT1):c.229G>T:p.Ala77Ser	coding	Pathogenic
1	155904739	C	G	C155904739G	RIT1	NM_006912.6(RIT1):c.229G>C:p.Ala77Pro	coding	Pathogenic/Likely_pathogenic
1	155904739	C	T	C155904739T	RIT1	NM_006912.6(RIT1):c.229G>A:p.Ala77Thr	coding	Pathogenic/Likely_pathogenic
1	155904798	G	C	G155904798C	RIT1	NM_006912.6(RIT1):c.170C>G:p.Ala57Gly	coding	Pathogenic
1	155910217	G	C	G155910217C	RIT1	NM_006912.6(RIT1):c.163+233C>G	noncoding	Benign
1	155910443	G	A	G155910443A	RIT1	NM_006912.6(RIT1):c.163+7C>T	noncoding	Benign
1	155910641	G	A	G155910641A	RIT1	NM_006912.6(RIT1):c.106+15C>T	noncoding	Benign/Likely_benign
1	155910658	C	G	C155910658G	RIT1	NM_006912.6(RIT1):c.104G>C:p.Ser35Thr	coding	Pathogenic
1	155910671	C	G	C155910671G	RIT1	NM_006912.6(RIT1):c.91G>C:p.Gly31Arg	coding	Pathogenic
1	155910693	T	G	T155910693G	RIT1	NM_006912.6(RIT1):c.69A>C:p.Lys23Asn	coding	Pathogenic
1	155910782	C	G	C155910782G	RIT1	NM_006912.6(RIT1):c.-21G>C	coding	Benign
1	155911161	G	A	G155911161A	RIT1	NM_006912.6(RIT1):c.-44+82C>T	noncoding	Benign
1	155950335	C	A	C155950335A	ARHGEF2	NM_001162383.2(ARHGEF2):c.2851G>T:p.Gly951Cys	coding	Benign
1	155951747	C	A	C155951747A	ARHGEF2	NM_001162383.2(ARHGEF2):c.2202G>T:p.Pro734=	coding	Benign
1	155961683	C	T	C155961683T	ARHGEF2	NM_001162383.2(ARHGEF2):c.1446G>A:p.Lys482=	coding	Benign
1	155961839	G	A	G155961839A	ARHGEF2	NM_001162383.2(ARHGEF2):c.1290C>T:p.Asp430=	coding	Benign
1	155963056	G	A	G155963056A	ARHGEF2	NM_001162383.2(ARHGEF2):c.852C>T:p.Asp284=	coding	Benign
1	155965141	A	T	A155965141T	ARHGEF2	NM_001162383.2(ARHGEF2):c.581-10T>A	noncoding	Benign
1	155965367	T	C	T155965367C	ARHGEF2	NM_001162383.2(ARHGEF2):c.516A>G:p.Ser172=	coding	Benign
1	156041545	G	A	G156041545A	UBQLN4	NM_020131.5(UBQLN4):c.1593C>T:p.Ser531=	coding	Benign
1	156041653	T	C	T156041653C	UBQLN4	NM_020131.5(UBQLN4):c.1485A>G:p.Ile495Met	coding	Benign
1	156048508	C	T	C156048508T	UBQLN4	NM_020131.5(UBQLN4):c.893G>A:p.Arg298Gln	coding	Benign
1	156114831	G	T	G156114831T	LMNA	NM_170707.4(LMNA):c.-88G>T	noncoding	Benign/Likely_benign
1	156114921	G	A	G156114921A	LMNA	NM_170707.4(LMNA):c.3G>A:p.Met1Ile	coding	Pathogenic
1	156114921	G	C	G156114921C	LMNA	NM_170707.4(LMNA):c.3G>C:p.Met1Ile	coding	Pathogenic
1	156114921	G	T	G156114921T	LMNA	NM_170707.4(LMNA):c.3G>T:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
1	156114922	G	T	G156114922T	LMNA	NM_170707.4(LMNA):c.4G>T:p.Glu2Ter	coding	Pathogenic
1	156114929	C	G	C156114929G	LMNA	NM_170707.4(LMNA):c.11C>G:p.Pro4Arg	coding	Pathogenic
1	156114930	G	A	G156114930A	LMNA	NM_170707.4(LMNA):c.12G>A:p.Pro4=	coding	Benign/Likely_benign
1	156114934	C	T	C156114934T	LMNA	NM_170707.4(LMNA):c.16C>T:p.Gln6Ter	coding	Pathogenic
1	156114947	C	T	C156114947T	LMNA	NM_170707.4(LMNA):c.29C>T:p.Thr10Ile	coding	Pathogenic/Likely_pathogenic
1	156114969	C	T	C156114969T	LMNA	NM_170707.4(LMNA):c.51C>T:p.Ser17=	coding	Benign/Likely_benign
1	156114991	C	G	C156114991G	LMNA	NM_170707.4(LMNA):c.73C>G:p.Arg25Gly	coding	Pathogenic/Likely_pathogenic
1	156115000	C	T	C156115000T	LMNA	NM_170707.4(LMNA):c.82C>T:p.Arg28Trp	coding	Pathogenic
1	156115009	G	A	G156115009A	LMNA	NM_170707.4(LMNA):c.91G>A:p.Glu31Lys	coding	Pathogenic
1	156115010	A	G	A156115010G	LMNA	NM_170707.4(LMNA):c.92A>G:p.Glu31Gly	coding	Pathogenic
1	156115012	A	T	A156115012T	LMNA	NM_170707.4(LMNA):c.94A>T:p.Lys32Ter	coding	Pathogenic
1	156115034	A	G	A156115034G	LMNA	NM_170707.4(LMNA):c.116A>G:p.Asn39Ser	coding	Pathogenic
1	156115039	C	A	C156115039A	LMNA	NM_170707.4(LMNA):c.121C>A:p.Arg41Ser	coding	Pathogenic
1	156115040	G	A	G156115040A	LMNA	NM_170707.4(LMNA):c.122G>A:p.Arg41His	coding	Pathogenic
1	156115076	A	G	A156115076G	LMNA	NM_170707.4(LMNA):c.158A>G:p.Glu53Gly	coding	Pathogenic/Likely_pathogenic
1	156115081	G	T	G156115081T	LMNA	NM_170707.4(LMNA):c.163G>T:p.Glu55Ter	coding	Pathogenic
1	156115087	G	C	G156115087C	LMNA	NM_170707.4(LMNA):c.169G>C:p.Ala57Pro	coding	Pathogenic
1	156115094	T	G	T156115094G	LMNA	NM_170707.4(LMNA):c.176T>G:p.Leu59Arg	coding	Pathogenic
1	156115096	C	G	C156115096G	LMNA	NM_170707.4(LMNA):c.178C>G:p.Arg60Gly	coding	Pathogenic
1	156115102	C	G	C156115102G	LMNA	NM_170707.4(LMNA):c.184C>G:p.Arg62Gly	coding	Pathogenic
1	156115135	G	T	G156115135T	LMNA	NM_170707.4(LMNA):c.217G>T:p.Glu73Ter	coding	Pathogenic
1	156115162	G	A	G156115162A	LMNA	NM_170707.4(LMNA):c.244G>A:p.Glu82Lys	coding	Pathogenic
1	156115172	T	G	T156115172G	LMNA	NM_170707.4(LMNA):c.254T>G:p.Leu85Arg	coding	Pathogenic
1	156115184	G	T	G156115184T	LMNA	NM_170707.4(LMNA):c.266G>T:p.Arg89Leu	coding	Pathogenic
1	156115223	T	C	T156115223C	LMNA	NM_170707.4(LMNA):c.305T>C:p.Leu102Pro	coding	Pathogenic
1	156115275	G	A	G156115275A	LMNA	NM_170707.4(LMNA):c.356+1G>A	coding	Pathogenic
1	156115275	G	C	G156115275C	LMNA	NM_170707.4(LMNA):c.356+1G>C	coding	Pathogenic/Likely_pathogenic
1	156115584	T	C	T156115584C	LMNA	NM_170707.4(LMNA):c.356+310T>C	noncoding	Benign
1	156126191	G	A	G156126191A	LMNA	NM_170707.4(LMNA):c.357-4426G>A	coding	Benign
1	156126585	G	A	G156126585A	LMNA	NM_170707.4(LMNA):c.357-4032G>A	noncoding	Benign
1	156126596	G	A	G156126596A	LMNA	NM_170707.4(LMNA):c.357-4021G>A	noncoding	Benign
1	156126626	T	G	T156126626G	LMNA	NM_170707.4(LMNA):c.357-3991T>G	noncoding	Benign
1	156127082	T	C	T156127082C	LMNA	NM_170707.4(LMNA):c.357-3535T>C	noncoding	Benign
1	156127128	G	A	G156127128A	LMNA	NM_170707.4(LMNA):c.357-3489G>A	noncoding	Benign
1	156129878	T	G	T156129878G	LMNA	NM_170707.4(LMNA):c.357-739T>G	noncoding	Benign
1	156130348	T	C	T156130348C	LMNA	NM_170707.4(LMNA):c.357-269T>C	noncoding	Benign
1	156130598	T	C	T156130598C	LMNA	NM_170707.4(LMNA):c.357-19T>C	noncoding	Benign
1	156130615	A	G	A156130615G	LMNA	NM_170707.4(LMNA):c.357-2A>G	noncoding	Pathogenic
1	156130651	C	T	C156130651T	LMNA	NM_170707.4(LMNA):c.391C>T:p.Gln131Ter	coding	Pathogenic
1	156130658	G	T	G156130658T	LMNA	NM_170707.4(LMNA):c.398G>T:p.Arg133Leu	coding	Pathogenic
1	156130672	G	A	G156130672A	LMNA	NM_170707.4(LMNA):c.412G>A:p.Glu138Lys	coding	Pathogenic
1	156130679	T	G	T156130679G	LMNA	NM_170707.4(LMNA):c.419T>G:p.Leu140Arg	coding	Pathogenic
1	156130687	T	C	T156130687C	LMNA	NM_170707.4(LMNA):c.427T>C:p.Ser143Pro	coding	Pathogenic/Likely_pathogenic
1	156130688	C	T	C156130688T	LMNA	NM_170707.4(LMNA):c.428C>T:p.Ser143Phe	coding	Pathogenic
1	156130693	G	A	G156130693A	LMNA	NM_170707.4(LMNA):c.433G>A:p.Glu145Lys	coding	Pathogenic
1	156130698	C	T	C156130698T	LMNA	NM_170707.4(LMNA):c.438C>T:p.Ala146=	coding	Benign/Likely_benign
1	156130708	A	C	A156130708C	LMNA	NM_170707.4(LMNA):c.448A>C:p.Thr150Pro	coding	Pathogenic/Likely_pathogenic
1	156130735	G	T	G156130735T	LMNA	NM_170707.4(LMNA):c.475G>T:p.Glu159Ter	coding	Pathogenic
1	156130741	G	A	G156130741A	LMNA	NM_170707.4(LMNA):c.481G>A:p.Glu161Lys	coding	Pathogenic/Likely_pathogenic
1	156130757	G	C	G156130757C	LMNA	NM_170707.4(LMNA):c.497G>C:p.Arg166Pro	coding	Pathogenic/Likely_pathogenic
1	156130774	G	A	G156130774A	LMNA	NM_170707.4(LMNA):c.513+1G>A	coding	Pathogenic
1	156130818	T	G	T156130818G	LMNA	NM_170707.4(LMNA):c.513+45T>G	noncoding	Pathogenic
1	156130948	T	C	T156130948C	LMNA	NM_170707.4(LMNA):c.513+175T>C	noncoding	Benign
1	156134206	A	C	A156134206C	LMNA	NM_170707.4(LMNA):c.514-197A>C	noncoding	Benign
1	156134292	C	T	C156134292T	LMNA	NM_170707.4(LMNA):c.514-111C>T	noncoding	Benign
1	156134439	C	T	C156134439T	LMNA	NM_170707.4(LMNA):c.550C>T:p.Gln184Ter	coding	Pathogenic
1	156134457	C	T	C156134457T	LMNA	NM_170707.4(LMNA):c.568C>T:p.Arg190Trp	coding	Pathogenic
1	156134458	G	A	G156134458A	LMNA	NM_170707.4(LMNA):c.569G>A:p.Arg190Gln	coding	Pathogenic/Likely_pathogenic
1	156134474	C	G	C156134474G	LMNA	NM_170707.4(LMNA):c.585C>G:p.Asn195Lys	coding	Pathogenic
1	156134481	C	T	C156134481T	LMNA	NM_170707.4(LMNA):c.592C>T:p.Gln198Ter	coding	Pathogenic
1	156134490	A	T	A156134490T	LMNA	NM_170707.4(LMNA):c.601A>T:p.Lys201Ter	coding	Pathogenic
1	156134496	G	A	G156134496A	LMNA	NM_170707.4(LMNA):c.607G>A:p.Glu203Lys	coding	Pathogenic/Likely_pathogenic
1	156134497	A	G	A156134497G	LMNA	NM_170707.4(LMNA):c.608A>G:p.Glu203Gly	coding	Pathogenic
1	156134501	G	A	G156134501A	LMNA	NM_170707.4(LMNA):c.612G>A:p.Leu204=	coding	Benign/Likely_benign
1	156134584	G	T	G156134584T	LMNA	NM_170707.4(LMNA):c.639+56G>T	noncoding	Benign
1	156134601	C	T	C156134601T	LMNA	NM_170707.4(LMNA):c.639+73C>T	noncoding	Benign
1	156134795	A	G	A156134795G	LMNA	NM_170707.4(LMNA):c.640-10A>G	noncoding	Pathogenic
1	156134809	T	C	T156134809C	LMNA	NM_170707.4(LMNA):c.644T>C:p.Leu215Pro	coding	Pathogenic
1	156134829	C	T	C156134829T	LMNA	NM_170707.4(LMNA):c.664C>T:p.His222Tyr	coding	Pathogenic
1	156134832	G	A	G156134832A	LMNA	NM_170707.4(LMNA):c.667G>A:p.Glu223Lys	coding	Pathogenic
1	156134838	C	T	C156134838T	LMNA	NM_170707.4(LMNA):c.673C>T:p.Arg225Ter	coding	Pathogenic
1	156134853	G	A	G156134853A	LMNA	NM_170707.4(LMNA):c.688G>A:p.Asp230Asn	coding	Pathogenic
1	156134860	G	A	G156134860A	LMNA	NM_170707.4(LMNA):c.695G>A:p.Gly232Glu	coding	Pathogenic/Likely_pathogenic
1	156134865	C	T	C156134865T	LMNA	NM_170707.4(LMNA):c.700C>T:p.Gln234Ter	coding	Pathogenic
1	156134875	T	C	T156134875C	LMNA	NM_170707.4(LMNA):c.710T>C:p.Phe237Ser	coding	Pathogenic
1	156134901	C	T	C156134901T	LMNA	NM_170707.4(LMNA):c.736C>T:p.Gln246Ter	coding	Pathogenic
1	156134910	C	T	C156134910T	LMNA	NM_170707.4(LMNA):c.745C>T:p.Arg249Trp	coding	Pathogenic/Likely_pathogenic
1	156134911	G	A	G156134911A	LMNA	NM_170707.4(LMNA):c.746G>A:p.Arg249Gln	coding	Pathogenic
1	156134964	T	C	T156134964C	LMNA	NM_170707.4(LMNA):c.799T>C:p.Tyr267His	coding	Pathogenic/Likely_pathogenic
1	156134976	G	C	G156134976C	LMNA	NM_170707.4(LMNA):c.810+1G>C	coding	Pathogenic
1	156134987	C	T	C156134987T	LMNA	NM_170707.4(LMNA):c.810+12C>T	noncoding	Benign/Likely_benign
1	156134988	G	T	G156134988T	LMNA	NM_170707.4(LMNA):c.810+13G>T	noncoding	Benign
1	156135036	C	T	C156135036T	LMNA	NM_170707.4(LMNA):c.810+61C>T	noncoding	Benign
1	156135208	G	C	G156135208C	LMNA	NM_170707.4(LMNA):c.832G>C:p.Ala278Pro	coding	Pathogenic
1	156135237	T	C	T156135237C	LMNA	NM_170707.4(LMNA):c.861T>C:p.Ala287=	coding	Benign
1	156135247	G	A	G156135247A	LMNA	NM_170707.4(LMNA):c.871G>A:p.Glu291Lys	coding	Pathogenic
1	156135253	C	T	C156135253T	LMNA	NM_170707.4(LMNA):c.877C>T:p.Gln293Ter	coding	Pathogenic
1	156135275	A	G	A156135275G	LMNA	NM_170707.4(LMNA):c.899A>G:p.Asp300Gly	coding	Pathogenic
1	156135293	T	G	T156135293G	LMNA	NM_170707.4(LMNA):c.917T>G:p.Leu306Arg	coding	Pathogenic
1	156135304	C	T	C156135304T	LMNA	NM_170707.4(LMNA):c.928C>T:p.Gln310Ter	coding	Pathogenic
1	156135310	C	T	C156135310T	LMNA	NM_170707.4(LMNA):c.934C>T:p.Gln312Ter	coding	Pathogenic
1	156135313	G	A	G156135313A	LMNA	NM_170707.4(LMNA):c.936+1G>A	coding	Pathogenic
1	156135546	C	T	C156135546T	LMNA	NM_170707.4(LMNA):c.936+234C>T	noncoding	Benign
1	156135626	A	G	A156135626G	LMNA	NM_170707.4(LMNA):c.937-275A>G	noncoding	Benign
1	156135912	G	A	G156135912A	LMNA	NM_170707.4(LMNA):c.948G>A:p.Lys316=	coding	Benign/Likely_benign
1	156135913	G	A	G156135913A	LMNA	NM_170707.4(LMNA):c.949G>A:p.Glu317Lys	coding	Pathogenic/Likely_pathogenic
1	156135913	G	T	G156135913T	LMNA	NM_170707.4(LMNA):c.949G>T:p.Glu317Ter	coding	Pathogenic
1	156135925	C	T	C156135925T	LMNA	NM_170707.4(LMNA):c.961C>T:p.Arg321Ter	coding	Pathogenic
1	156135952	G	T	G156135952T	LMNA	NM_170707.4(LMNA):c.988G>T:p.Glu330Ter	coding	Pathogenic
1	156135967	C	T	C156135967T	LMNA	NM_170707.4(LMNA):c.1003C>T:p.Arg335Trp	coding	Pathogenic/Likely_pathogenic
1	156136009	C	T	C156136009T	LMNA	NM_170707.4(LMNA):c.1045C>T:p.Arg349Trp	coding	Pathogenic/Likely_pathogenic
1	156136021	C	T	C156136021T	LMNA	NM_170707.4(LMNA):c.1057C>T:p.Gln353Ter	coding	Pathogenic
1	156136024	C	T	C156136024T	LMNA	NM_170707.4(LMNA):c.1060C>T:p.Gln354Ter	coding	Pathogenic
1	156136027	C	T	C156136027T	LMNA	NM_170707.4(LMNA):c.1063C>T:p.Gln355Ter	coding	Pathogenic
1	156136036	G	A	G156136036A	LMNA	NM_170707.4(LMNA):c.1072G>A:p.Glu358Lys	coding	Pathogenic
1	156136042	C	T	C156136042T	LMNA	NM_170707.4(LMNA):c.1078C>T:p.Gln360Ter	coding	Pathogenic
1	156136083	C	G	C156136083G	LMNA	NM_170707.4(LMNA):c.1119C>G:p.Ile373Met	coding	Pathogenic
1	156136093	C	T	C156136093T	LMNA	NM_170707.4(LMNA):c.1129C>T:p.Arg377Cys	coding	Pathogenic/Likely_pathogenic
1	156136094	G	A	G156136094A	LMNA	NM_170707.4(LMNA):c.1130G>A:p.Arg377His	coding	Pathogenic
1	156136103	T	C	T156136103C	LMNA	NM_170707.4(LMNA):c.1139T>C:p.Leu380Ser	coding	Pathogenic
1	156136110	C	T	C156136110T	LMNA	NM_170707.4(LMNA):c.1146C>T:p.Gly382=	coding	Pathogenic/Likely_pathogenic
1	156136111	G	A	G156136111A	LMNA	NM_170707.4(LMNA):c.1147G>A:p.Glu383Lys	coding	Pathogenic
1	156136120	A	G	A156136120G	LMNA	NM_170707.4(LMNA):c.1156A>G:p.Arg386Gly	coding	Pathogenic
1	156136121	G	A	G156136121A	LMNA	NM_170707.4(LMNA):c.1157G>A:p.Arg386Lys	coding	Pathogenic
1	156136121	G	C	G156136121C	LMNA	NM_170707.4(LMNA):c.1157G>C:p.Arg386Thr	coding	Pathogenic
1	156136122	G	A	G156136122A	LMNA	NM_170707.4(LMNA):c.1157+1G>A	coding	Pathogenic
1	156136122	G	T	G156136122T	LMNA	NM_170707.4(LMNA):c.1157+1G>T	coding	Pathogenic
1	156136137	G	A	G156136137A	LMNA	NM_170707.4(LMNA):c.1157+16G>A	noncoding	Benign/Likely_benign
1	156136170	C	T	C156136170T	LMNA	NM_170707.4(LMNA):c.1158-44C>T	noncoding	Benign
1	156136171	A	G	A156136171G	LMNA	NM_170707.4(LMNA):c.1158-43A>G	noncoding	Benign/Likely_benign
1	156136240	C	A	C156136240A	LMNA	NM_170707.4(LMNA):c.1184C>A:p.Ser395Ter	coding	Pathogenic
1	156136284	C	T	C156136284T	LMNA	NM_170707.4(LMNA):c.1228C>T:p.Gln410Ter	coding	Pathogenic
1	156136320	G	T	G156136320T	LMNA	NM_170707.4(LMNA):c.1264G>T:p.Glu422Ter	coding	Pathogenic
1	156136350	C	T	C156136350T	LMNA	NM_170707.4(LMNA):c.1294C>T:p.Gln432Ter	coding	Pathogenic/Likely_pathogenic
1	156136355	C	T	C156136355T	LMNA	NM_170707.4(LMNA):c.1299C>T:p.His433=	coding	Benign/Likely_benign
1	156136394	T	C	T156136394C	LMNA	NM_170707.4(LMNA):c.1338T>C:p.Asp446=	coding	Benign
1	156136402	G	A	G156136402A	LMNA	NM_170707.4(LMNA):c.1346G>A:p.Gly449Asp	coding	Pathogenic
1	156136413	C	T	C156136413T	LMNA	NM_170707.4(LMNA):c.1357C>T:p.Arg453Trp	coding	Pathogenic/Likely_pathogenic
1	156136422	A	G	A156136422G	LMNA	NM_170707.4(LMNA):c.1366A>G:p.Asn456Asp	coding	Pathogenic
1	156136424	C	A	C156136424A	LMNA	NM_170707.4(LMNA):c.1368C>A:p.Asn456Lys	coding	Pathogenic
1	156136437	G	A	G156136437A	LMNA	NM_170707.4(LMNA):c.1380+1G>A	coding	Pathogenic
1	156136578	G	A	G156136578A	LMNA	NM_170707.4(LMNA):c.1380+142G>A	noncoding	Benign
1	156136908	A	G	A156136908G	LMNA	NM_170707.4(LMNA):c.1381-13A>G	noncoding	Benign/Likely_benign
1	156136934	G	A	G156136934A	LMNA	NM_170707.4(LMNA):c.1394G>A:p.Gly465Asp	coding	Pathogenic
1	156136941	G	A	G156136941A	LMNA	NM_170707.4(LMNA):c.1401G>A:p.Trp467Ter	coding	Pathogenic
1	156136952	G	A	G156136952A	LMNA	NM_170707.4(LMNA):c.1412G>A:p.Arg471His	coding	Pathogenic/Likely_pathogenic
1	156136984	C	T	C156136984T	LMNA	NM_170707.4(LMNA):c.1444C>T:p.Arg482Trp	coding	Pathogenic
1	156136998	G	T	G156136998T	LMNA	NM_170707.4(LMNA):c.1458G>T:p.Lys486Asn	coding	Pathogenic
1	156137017	C	T	C156137017T	LMNA	NM_170707.4(LMNA):c.1477C>T:p.Gln493Ter	coding	Pathogenic
1	156137029	G	A	G156137029A	LMNA	NM_170707.4(LMNA):c.1488+1G>A	coding	Pathogenic
1	156137033	G	C	G156137033C	LMNA	NM_170707.4(LMNA):c.1488+5G>C	noncoding	Pathogenic
1	156137072	C	T	C156137072T	LMNA	NM_170707.4(LMNA):c.1489-41C>T	noncoding	Benign
1	156137118	G	A	G156137118A	LMNA	NM_170707.4(LMNA):c.1494G>A:p.Trp498Ter	coding	Pathogenic
1	156137164	T	C	T156137164C	LMNA	NM_170707.4(LMNA):c.1540T>C:p.Trp514Arg	coding	Pathogenic
1	156137165	G	A	G156137165A	LMNA	NM_170707.4(LMNA):c.1541G>A:p.Trp514Ter	coding	Pathogenic
1	156137182	T	A	T156137182A	LMNA	NM_170707.4(LMNA):c.1558T>A:p.Trp520Arg	coding	Pathogenic
1	156137182	T	C	T156137182C	LMNA	NM_170707.4(LMNA):c.1558T>C:p.Trp520Arg	coding	Pathogenic
1	156137183	G	A	G156137183A	LMNA	NM_170707.4(LMNA):c.1559G>A:p.Trp520Ter	coding	Pathogenic
1	156137184	G	A	G156137184A	LMNA	NM_170707.4(LMNA):c.1560G>A:p.Trp520Ter	coding	Pathogenic
1	156137190	C	A	C156137190A	LMNA	NM_170707.4(LMNA):c.1566C>A:p.Cys522Ter	coding	Pathogenic
1	156137204	G	C	G156137204C	LMNA	NM_170707.4(LMNA):c.1580G>C:p.Arg527Pro	coding	Pathogenic
1	156137206	A	C	A156137206C	LMNA	NM_170707.4(LMNA):c.1582A>C:p.Thr528Pro	coding	Pathogenic
1	156137207	C	A	C156137207A	LMNA	NM_170707.4(LMNA):c.1583C>A:p.Thr528Lys	coding	Pathogenic/Likely_pathogenic
1	156137207	C	G	C156137207G	LMNA	NM_170707.4(LMNA):c.1583C>G:p.Thr528Arg	coding	Pathogenic/Likely_pathogenic
1	156137208	G	A	G156137208A	LMNA	NM_170707.4(LMNA):c.1584G>A:p.Thr528=	coding	Benign/Likely_benign
1	156137209	G	A	G156137209A	LMNA	NM_170707.4(LMNA):c.1585G>A:p.Ala529Thr	coding	Pathogenic
1	156137210	C	T	C156137210T	LMNA	NM_170707.4(LMNA):c.1586C>T:p.Ala529Val	coding	Pathogenic
1	156137213	T	C	T156137213C	LMNA	NM_170707.4(LMNA):c.1589T>C:p.Leu530Pro	coding	Pathogenic
1	156137233	G	A	G156137233A	LMNA	NM_170707.4(LMNA):c.1608+1G>A	coding	Pathogenic
1	156137237	G	C	G156137237C	LMNA	NM_170707.4(LMNA):c.1608+5G>C	noncoding	Pathogenic
1	156137384	A	G	A156137384G	LMNA	NM_170707.4(LMNA):c.1608+152A>G	noncoding	Benign
1	156137642	T	G	T156137642G	LMNA	NM_170707.4(LMNA):c.1609-12T>G	noncoding	Pathogenic
1	156137651	C	G	C156137651G	LMNA	NM_170707.4(LMNA):c.1609-3C>G	noncoding	Pathogenic/Likely_pathogenic
1	156137653	G	A	G156137653A	LMNA	NM_170707.4(LMNA):c.1609-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	156137664	T	C	T156137664C	LMNA	NM_170707.4(LMNA):c.1619T>C:p.Met540Thr	coding	Pathogenic
1	156137665	G	A	G156137665A	LMNA	NM_170707.4(LMNA):c.1620G>A:p.Met540Ile	coding	Pathogenic
1	156137666	C	G	C156137666G	LMNA	NM_170707.4(LMNA):c.1621C>G:p.Arg541Gly	coding	Pathogenic
1	156137666	C	T	C156137666T	LMNA	NM_170707.4(LMNA):c.1621C>T:p.Arg541Cys	coding	Pathogenic/Likely_pathogenic
1	156137667	G	A	G156137667A	LMNA	NM_170707.4(LMNA):c.1622G>A:p.Arg541His	coding	Pathogenic/Likely_pathogenic
1	156137667	G	C	G156137667C	LMNA	NM_170707.4(LMNA):c.1622G>C:p.Arg541Pro	coding	Pathogenic/Likely_pathogenic
1	156137671	G	C	G156137671C	LMNA	NM_170707.4(LMNA):c.1626G>C:p.Lys542Asn	coding	Pathogenic
1	156137743	C	T	C156137743T	LMNA	NM_170707.4(LMNA):c.1698C>T:p.His566=	coding	Benign
1	156137757	G	A	G156137757A	LMNA	NM_170707.4(LMNA):c.1698+14G>A	coding	Benign/Likely_benign
1	156138228	C	T	C156138228T	LMNA	NM_170707.4(LMNA):c.1699-260C>T	noncoding	Benign
1	156138257	T	C	T156138257C	LMNA	NM_170707.4(LMNA):c.1699-231T>C	noncoding	Benign
1	156138534	G	A	G156138534A	LMNA	NM_170707.4(LMNA):c.1745G>A:p.Arg582His	coding	Pathogenic
1	156138550	G	A	G156138550A	LMNA	NM_170707.4(LMNA):c.1761G>A:p.Leu587=	coding	Benign/Likely_benign
1	156138560	T	A	T156138560A	LMNA	NM_170707.4(LMNA):c.1771T>A:p.Cys591Ser	coding	Pathogenic
1	156138610	G	A	G156138610A	LMNA	NM_170707.4(LMNA):c.1821G>A:p.Val607=	coding	Pathogenic
1	156138611	G	A	G156138611A	LMNA	NM_170707.4(LMNA):c.1822G>A:p.Gly608Ser	coding	Pathogenic
1	156138613	C	T	C156138613T	LMNA	NM_170707.4(LMNA):c.1824C>T:p.Gly608=	coding	Pathogenic
1	156138657	C	G	C156138657G	LMNA	NM_170707.4(LMNA):c.1868C>G:p.Thr623Ser	coding	Pathogenic
1	156138697	C	T	C156138697T	LMNA	NM_170707.4(LMNA):c.1908C>T:p.Ser636=	coding	Pathogenic
1	156138700	C	T	C156138700T	LMNA	NM_170707.4(LMNA):c.1911C>T:p.Phe637=	coding	Benign/Likely_benign
1	156138757	G	A	G156138757A	LMNA	NM_170707.4(LMNA):c.1968G>A:p.Gln656=	coding	Pathogenic
1	156138758	G	A	G156138758A	LMNA	NM_170707.4(LMNA):c.1968+1G>A	coding	Pathogenic
1	156138758	G	C	G156138758C	LMNA	NM_170707.4(LMNA):c.1968+1G>C	coding	Pathogenic
1	156138759	T	A	T156138759A	LMNA	NM_170707.4(LMNA):c.1968+2T>A	noncoding	Pathogenic
1	156138759	T	C	T156138759C	LMNA	NM_170707.4(LMNA):c.1968+2T>C	noncoding	Pathogenic
1	156138762	G	A	G156138762A	LMNA	NM_170707.4(LMNA):c.1968+5G>A	noncoding	Pathogenic
1	156138762	G	C	G156138762C	LMNA	NM_170707.4(LMNA):c.1968+5G>C	noncoding	Pathogenic
1	156138783	A	G	A156138783G	LMNA	NM_170707.4(LMNA):c.1968+26A>G	noncoding	Benign
1	156139853	G	A	G156139853A	LMNA	NM_170707.4(LMNA):c.*747G>A	noncoding	Benign
1	156162945	C	T	C156162945T	SEMA4A	NM_022367.4(SEMA4A):c.985C>T:p.Gln329Ter	coding	Pathogenic
1	156162993	G	C	G156162993C	SEMA4A	NM_022367.4(SEMA4A):c.1033G>C:p.Asp345His	coding	Pathogenic
1	156163009	T	G	T156163009G	SEMA4A	NM_022367.4(SEMA4A):c.1049T>G:p.Phe350Cys	coding	Pathogenic
1	156174952	C	A	C156174952A	SEMA4A	NM_022367.4(SEMA4A):c.1434+12C>A	noncoding	Benign/Likely_benign
1	156175180	G	A	G156175180A	SEMA4A	NM_022367.4(SEMA4A):c.1529G>A:p.Arg510Gln	coding	Benign/Likely_benign
1	156176427	C	T	C156176427T	SEMA4A	NM_022367.4(SEMA4A):c.1716C>T:p.Pro572=	coding	Benign
1	156176738	C	T	C156176738T	SEMA4A	NM_022367.4(SEMA4A):c.2027C>T:p.Ala676Val	coding	Benign/Likely_benign
1	156176755	C	T	C156176755T	SEMA4A	NM_022367.4(SEMA4A):c.2044C>T:p.Pro682Ser	coding	Benign/Likely_benign
1	156176849	G	A	G156176849A	SEMA4A	NM_022367.4(SEMA4A):c.2138G>A:p.Arg713Gln	coding	Benign/Likely_benign
1	156176878	C	T	C156176878T	SEMA4A	NM_022367.4(SEMA4A):c.2167C>T:p.Arg723Cys	coding	Benign/Likely_benign
1	156177034	T	C	T156177034C	SEMA4A	NM_022367.4(SEMA4A):c.*37T>C	noncoding	Benign/Likely_benign
1	156177535	T	C	T156177535C	SEMA4A	NM_022367.4(SEMA4A):c.*538T>C	noncoding	Benign/Likely_benign
1	156243140	G	A	G156243140A	BGLAP	NM_199173.6(BGLAP):c.281G>A:p.Arg94Gln	coding	Benign
1	156266009	G	A	G156266009A	SMG5	NM_015327.3(SMG5):c.1627C>T:p.Arg543Trp	coding	Benign
1	156268420	A	G	A156268420G	SMG5	NM_015327.3(SMG5):c.714-5T>C	noncoding	Benign
1	156285318	G	A	G156285318A	TMEM79	NM_032323.3(TMEM79):c.92G>A:p.Arg31Gln	coding	Benign
1	156285844	C	G	C156285844G	TMEM79	NM_032323.3(TMEM79):c.618C>G:p.Ala206=	coding	Benign
1	156286273	C	T	C156286273T	TMEM79	NM_032323.3(TMEM79):c.771C>T:p.Tyr257=	coding	Benign
1	156293154	G	C	G156293154C	GLMP	NM_144580.3(GLMP):c.1111C>G:p.Leu371Val	coding	Benign
1	156334921	A	G	A156334921G	CCT3	NM_005998.5(CCT3):c.94-3T>C	noncoding	Benign
1	156346888	C	T	C156346888T	TSACC	NM_001304817.2(TSACC):c.284C>T:p.Thr95Ile	coding	Benign
1	156550308	C	A	C156550308A	IQGAP3	NM_178229.5(IQGAP3):c.1778G>T:p.Arg593Leu	coding	Benign
1	156551755	C	T	C156551755T	IQGAP3	NM_178229.5(IQGAP3):c.1684G>A:p.Ala562Thr	coding	Benign
1	156563641	G	T	G156563641T	IQGAP3	NM_178229.5(IQGAP3):c.531C>A:p.Ser177=	coding	Benign
1	156591981	C	A	C156591981A	NAXE	NM_144772.3(NAXE):c.177C>A:p.Tyr59Ter	coding	Pathogenic
1	156592114	C	T	C156592114T	NAXE	NM_144772.3(NAXE):c.196C>T:p.Gln66Ter	coding	Pathogenic
1	156592199	C	A	C156592199A	NAXE	NM_144772.3(NAXE):c.281C>A:p.Ala94Asp	coding	Pathogenic
1	156592671	G	A	G156592671A	NAXE	NM_144772.3(NAXE):c.516+1G>A	coding	Pathogenic
1	156592679	C	A	C156592679A	NAXE	NM_144772.3(NAXE):c.516+9C>A	noncoding	Benign
1	156593456	G	A	G156593456A	NAXE	NM_144772.3(NAXE):c.565G>A:p.Gly189Ser	coding	Pathogenic
1	156593544	A	T	A156593544T	NAXE	NM_144772.3(NAXE):c.653A>T:p.Asp218Val	coding	Pathogenic
1	156594013	G	A	G156594013A	NAXE	NM_144772.3(NAXE):c.796G>A:p.Ala266Thr	coding	Benign
1	156623562	C	T	C156623562T	HAPLN2	NM_021817.3(HAPLN2):c.72C>T:p.Ala24=	coding	Benign
1	156624136	G	T	G156624136T	HAPLN2	NM_021817.3(HAPLN2):c.415G>T:p.Val139Leu	coding	Benign
1	156647022	C	G	C156647022G	BCAN	NM_021948.5(BCAN):c.313C>G:p.Arg105Gly	coding	Benign
1	156652733	C	A	C156652733A	BCAN	NM_021948.5(BCAN):c.1783C>A:p.Leu595Ile	coding	Benign
1	156656292	C	T	C156656292T	BCAN	NM_021948.5(BCAN):c.1953C>T:p.Val651=	coding	Benign
1	156669792	T	C	T156669792C	NES	NM_006617.2(NES):c.4396A>G:p.Ser1466Gly	coding	Benign
1	156669969	C	T	C156669969T	NES	NM_006617.2(NES):c.4219G>A:p.Gly1407Arg	coding	Benign
1	156671699	T	C	T156671699C	NES	NM_006617.2(NES):c.2489A>G:p.Lys830Arg	coding	Benign
1	156671817	G	T	G156671817T	NES	NM_006617.2(NES):c.2371C>A:p.Leu791Ile	coding	Benign
1	156672208	C	T	C156672208T	NES	NM_006617.2(NES):c.1980G>A:p.Leu660=	coding	Benign
1	156672363	C	G	C156672363G	NES	NM_006617.2(NES):c.1825G>C:p.Glu609Gln	coding	Benign
1	156672952	G	C	G156672952C	NES	NM_006617.2(NES):c.1236C>G:p.Leu412=	coding	Benign
1	156673163	C	T	C156673163T	NES	NM_006617.2(NES):c.1025G>A:p.Arg342Gln	coding	Benign
1	156815564	T	C	T156815564C	NTRK1	NM_003975.4(SH2D2A):c.124-343A>G	noncoding	Benign
1	156815825	G	A	G156815825A	NTRK1	NM_003975.4(SH2D2A):c.123+181C>T	coding	Benign
1	156815979	A	G	A156815979G	NTRK1	NM_003975.4(SH2D2A):c.123+27T>C	noncoding	Benign
1	156815987	G	A	G156815987A	NTRK1	NM_003975.4(SH2D2A):c.123+19C>T	noncoding	Benign
1	156841109	T	C	T156841109C	INSRR	NM_014215.3(INSRR):c.3663-5A>G	noncoding	Benign
1	156844235	G	A	G156844235A	NTRK1	NM_014215.3(INSRR):c.2783C>T:p.Pro928Leu	coding	Benign
1	156845224	C	T	C156845224T	INSRR	NM_014215.3(INSRR):c.2289G>A:p.Gln763=	coding	Benign
1	156846124	G	A	G156846124A	INSRR	NM_014215.3(INSRR):c.1811-5C>T	noncoding	Benign
1	156849409	G	C	G156849409C	INSRR	NM_014215.3(INSRR):c.1281C>G:p.Ser427=	coding	Benign
1	156851406	G	A	G156851406A	INSRR	NM_014215.3(INSRR):c.1113C>T:p.Ser371=	coding	Benign
1	156860935	A	C	A156860935C	NTRK1	NM_001007792.1(NTRK1):c.123-3419A>C	coding	Pathogenic
1	156860959	C	T	C156860959T	NTRK1	NM_001007792.1(NTRK1):c.123-3395C>T	coding	Pathogenic
1	156861091	G	C	G156861091C	NTRK1	NM_001007792.1(NTRK1):c.123-3263G>C	coding	Benign/Likely_benign
1	156864121	A	G	A156864121G	NTRK1	NM_001007792.1(NTRK1):c.123-233A>G	noncoding	Benign
1	156864395	G	A	G156864395A	NTRK1	NM_001007792.1(NTRK1):c.164G>A:p.Arg55His	coding	Benign/Likely_benign
1	156864720	C	T	C156864720T	NTRK1	NM_001007792.1(NTRK1):c.198-8C>T	noncoding	Benign
1	156866908	A	C	A156866908C	NTRK1	NM_002529.3(NTRK1):c.360-2A>C	noncoding	Pathogenic
1	156866946	G	A	G156866946A	NTRK1	NM_001007792.1(NTRK1):c.306G>A:p.Trp102Ter	coding	Pathogenic
1	156866974	G	T	G156866974T	NTRK1	NM_001007792.1(NTRK1):c.334G>T:p.Glu112Ter	coding	Pathogenic
1	156866990	C	A	C156866990A	NTRK1	NM_001007792.1(NTRK1):c.338+12C>A	noncoding	Benign
1	156868153	C	T	C156868153T	NTRK1	NM_001007792.1(NTRK1):c.388C>T:p.Gln130Ter	coding	Pathogenic
1	156868201	C	T	C156868201T	NTRK1	NM_001007792.1(NTRK1):c.436C>T:p.Gln146Ter	coding	Pathogenic
1	156868213	C	T	C156868213T	NTRK1	NM_001007792.1(NTRK1):c.448C>T:p.Gln150Ter	coding	Pathogenic
1	156868250	G	A	G156868250A	NTRK1	NM_002529.3(NTRK1):c.574+1G>A	coding	Pathogenic
1	156868349	T	C	T156868349C	NTRK1	NM_001007792.1(NTRK1):c.484+100T>C	noncoding	Benign
1	156868542	G	A	G156868542A	NTRK1	NM_001007792.1(NTRK1):c.522G>A:p.Ser174=	coding	Benign/Likely_benign
1	156868568	T	C	T156868568C	NTRK1	NM_001007792.1(NTRK1):c.548T>C:p.Leu183Pro	coding	Pathogenic
1	156868640	C	T	C156868640T	NTRK1	NM_001007792.1(NTRK1):c.620C>T:p.Thr207Met	coding	Benign
1	156868651	A	T	A156868651T	NTRK1	NM_002529.3(NTRK1):c.717+4A>T	noncoding	Pathogenic
1	156871467	A	C	A156871467C	NTRK1	NM_001007792.1(NTRK1):c.628-156A>C	noncoding	Benign
1	156871882	G	A	G156871882A	NTRK1	NM_001007792.1(NTRK1):c.760+127G>A	noncoding	Benign
1	156873600	T	A	T156873600A	NTRK1	NM_001007792.1(NTRK1):c.761-33T>A	noncoding	Pathogenic
1	156873862	G	A	G156873862A	NTRK1	NM_001007792.1(NTRK1):c.990G>A:p.Thr330=	coding	Benign
1	156874611	C	T	C156874611T	NTRK1	NM_001007792.1(NTRK1):c.1128C>T:p.Asp376=	coding	Benign/Likely_benign
1	156874911	G	A	G156874911A	NTRK1	NM_001007792.1(NTRK1):c.1149G>A:p.Ser383=	coding	Benign/Likely_benign
1	156874941	C	A	C156874941A	NTRK1	NM_001007792.1(NTRK1):c.1179C>A:p.Cys393Ter	coding	Pathogenic
1	156874985	G	A	G156874985A	NTRK1	NM_001007792.1(NTRK1):c.1223G>A:p.Arg408Gln	coding	Benign
1	156875609	A	T	A156875609T	NTRK1	NM_001007792.1(NTRK1):c.1336A>T:p.Lys446Ter	coding	Pathogenic
1	156876128	G	A	G156876128A	NTRK1	NM_002529.3(NTRK1):c.1550G>A:p.Gly517Glu	coding	Pathogenic
1	156876175	C	T	C156876175T	NTRK1	NM_001007792.1(NTRK1):c.1489C>T:p.Leu497=	coding	Benign
1	156876441	G	A	G156876441A	NTRK1	NM_001007792.1(NTRK1):c.1566G>A:p.Gln522=	coding	Benign
1	156876495	C	T	C156876495T	NTRK1	NM_001007792.1(NTRK1):c.1620C>T:p.Phe540=	coding	Benign
1	156876496	G	C	G156876496C	NTRK1	NM_001007792.1(NTRK1):c.1621G>C:p.Gly541Arg	coding	Pathogenic
1	156876526	A	G	A156876526G	NTRK1	NM_001007792.1(NTRK1):c.1651A>G:p.Met551Val	coding	Pathogenic
1	156876570	C	G	C156876570G	NTRK1	NM_001007792.1(NTRK1):c.1695C>G:p.Leu565=	coding	Benign
1	156876571	C	T	C156876571T	NTRK1	NM_001007792.1(NTRK1):c.1696C>T:p.Arg566Ter	coding	Pathogenic
1	156879002	C	T	C156879002T	NTRK1	NM_001007792.1(NTRK1):c.1698-120C>T	noncoding	Benign
1	156879016	T	C	T156879016C	NTRK1	NM_001007792.1(NTRK1):c.1698-106T>C	noncoding	Benign
1	156879126	C	T	C156879126T	NTRK1	NM_001007792.1(NTRK1):c.1702C>T:p.His568Tyr	coding	Benign/Likely_benign
1	156879154	G	T	G156879154T	NTRK1	NM_001007792.1(NTRK1):c.1730G>T:p.Gly577Val	coding	Benign/Likely_benign
1	156879176	C	T	C156879176T	NTRK1	NM_001007792.1(NTRK1):c.1752C>T:p.Gly584=	coding	Benign
1	156879203	C	T	C156879203T	NTRK1	NM_001007792.1(NTRK1):c.1779C>T:p.Ala593=	coding	Benign
1	156879261	C	T	C156879261T	NTRK1	NM_001007792.1(NTRK1):c.1837C>T:p.Arg613Trp	coding	Pathogenic
1	156879336	G	T	G156879336T	NTRK1	NM_001007792.1(NTRK1):c.1912G>T:p.Asp638Tyr	coding	Pathogenic
1	156879365	A	C	A156879365C	NTRK1	NM_002529.3(NTRK1):c.2046+3A>C	noncoding	Pathogenic
1	156879983	T	C	T156879983C	NTRK1	NM_001007792.1(NTRK1):c.1939-16T>C	noncoding	Benign
1	156879988	G	A	G156879988A	NTRK1	NM_002529.3(NTRK1):c.2047-11G>A	noncoding	Benign
1	156880004	A	G	A156880004G	NTRK1	NM_001007792.1(NTRK1):c.1944A>G:p.Gly648=	coding	Benign
1	156880154	G	A	G156880154A	NTRK1	NM_001007792.1(NTRK1):c.2094G>A:p.Thr698=	coding	Benign
1	156880312	G	C	G156880312C	NTRK1	NM_001007792.1(NTRK1):c.2097+155G>C	noncoding	Benign
1	156880320	T	G	T156880320G	NTRK1	NM_001007792.1(NTRK1):c.2097+163T>G	noncoding	Benign
1	156881249	T	G	T156881249G	NTRK1	NM_001007792.1(NTRK1):c.2098-208T>G	noncoding	Benign
1	156881523	G	A	G156881523A	NTRK1	NM_001007792.1(NTRK1):c.2164G>A:p.Ala722Thr	coding	Benign/Likely_benign
1	156881554	C	T	C156881554T	NTRK1	NM_001007792.1(NTRK1):c.2195C>T:p.Pro732Leu	coding	Pathogenic
1	156881590	G	C	G156881590C	NTRK1	NM_001007792.1(NTRK1):c.2231G>C:p.Arg744Pro	coding	Pathogenic
1	156907990	G	T	G156907990T	PEAR1	NM_001080471.1(PEAR1):c.841G>T:p.Gly281Cys	coding	Benign
1	156910361	G	A	G156910361A	PEAR1	NM_001080471.1(PEAR1):c.1806G>A:p.Arg602=	coding	Benign
1	156913237	C	T	C156913237T	PEAR1	NM_001080471.1(PEAR1):c.2466C>T:p.Tyr822=	coding	Benign
1	156984427	T	C	T156984427C	ARHGEF11	NM_198236.3(ARHGEF11):c.135A>G:p.Gln45=	coding	Benign
1	157092839	C	T	C157092839T	ETV3L	NM_001004341.2(ETV3L):c.896G>A:p.Arg299Lys	coding	Benign
1	157098803	G	C	G157098803C	ETV3L	NM_001004341.2(ETV3L):c.389C>G:p.Pro130Arg	coding	Benign
1	157098880	C	T	C157098880T	ETV3L	NM_001004341.2(ETV3L):c.312G>A:p.Lys104=	coding	Benign
1	157099176	T	C	T157099176C	ETV3L	NM_001004341.2(ETV3L):c.261A>G:p.Pro87=	coding	Benign
1	157521276	C	G	C157521276G	FCRL5	NM_031281.3(FCRL5):c.2256G>C:p.Pro752=	coding	Benign
1	157524427	A	G	A157524427G	FCRL5	NM_031281.3(FCRL5):c.2091T>C:p.Asp697=	coding	Benign
1	157524453	T	C	T157524453C	FCRL5	NM_031281.3(FCRL5):c.2065A>G:p.Ile689Val	coding	Benign
1	157539118	T	C	T157539118C	FCRL5	NM_031281.3(FCRL5):c.1370A>G:p.Gln457Arg	coding	Benign
1	157539207	G	T	G157539207T	FCRL5	NM_031281.3(FCRL5):c.1281C>A:p.Asn427Lys	coding	Benign
1	157544895	G	A	G157544895A	FCRL5	NM_031281.3(FCRL5):c.495C>T:p.Arg165=	coding	Benign
1	157578533	T	C	T157578533C	FCRL4	NM_031282.3(FCRL4):c.1370A>G:p.Lys457Arg	coding	Benign
1	157581559	C	G	C157581559G	FCRL4	NM_031282.3(FCRL4):c.1221G>C:p.Leu407=	coding	Benign
1	157587359	T	C	T157587359C	FCRL4	NM_031282.3(FCRL4):c.764A>G:p.Asn255Ser	coding	Benign
1	157681084	C	T	C157681084T	FCRL3	NM_052939.4(FCRL3):c.1854G>A:p.Glu618=	coding	Benign
1	157696040	T	C	T157696040C	FCRL3	NM_052939.4(FCRL3):c.1132A>G:p.Ile378Val	coding	Benign
1	157696253	G	A	G157696253A	FCRL3	NM_052939.4(FCRL3):c.919C>T:p.Leu307Phe	coding	Benign
1	157696294	C	A	C157696294A	FCRL3	NM_052939.4(FCRL3):c.878G>T:p.Arg293Leu	coding	Benign
1	158181583	A	T	A158181583T	CD1D	NM_001371762.2(CD1D):c.190A>T:p.Thr64Ser	coding	Benign
1	158255293	C	T	C158255293T	CD1A	NM_001763.3(CD1A):c.268C>T:p.Arg90Cys	coding	Benign
1	158256783	C	T	C158256783T	CD1A	NM_001763.3(CD1A):c.605-3C>T	noncoding	Benign
1	158291141	G	A	G158291141A	CD1C	NM_001765.3(CD1C):c.69G>A:p.Gln23=	coding	Benign
1	158293221	T	C	T158293221C	CD1C	NM_001765.3(CD1C):c.899T>C:p.Phe300Ser	coding	Benign
1	158293276	C	A	C158293276A	CD1C	NM_001765.3(CD1C):c.954C>A:p.Val318=	coding	Benign
1	158329517	C	T	C158329517T	CD1B	NM_001764.3(CD1B):c.739G>A:p.Gly247Ser	coding	Benign
1	158330814	C	T	C158330814T	CD1B	NM_001764.3(CD1B):c.310G>A:p.Gly104Ser	coding	Benign
1	158330896	A	G	A158330896G	CD1B	NM_001764.3(CD1B):c.228T>C:p.Phe76=	coding	Benign
1	158354623	A	G	A158354623G	CD1E	NM_030893.4(CD1E):c.305A>G:p.His102Arg	coding	Benign
1	158355993	C	T	C158355993T	CD1E	NM_030893.4(CD1E):c.792C>T:p.Asp264=	coding	Benign
1	158579012	G	A	G158579012A	OR10X1	NM_001004477.1(OR10X1):c.888C>T:p.Pro296=	coding	Benign
1	158579113	C	T	C158579113T	OR10X1	NM_001004477.1(OR10X1):c.787G>A:p.Val263Met	coding	Benign
1	158610969	G	A	G158610969A	SPTA1	NM_003126.4(SPTA1):c.*295C>T	noncoding	Benign
1	158610988	A	G	A158610988G	SPTA1	NM_003126.4(SPTA1):c.*276T>C	noncoding	Benign
1	158611097	T	C	T158611097C	SPTA1	NM_003126.4(SPTA1):c.*167A>G	noncoding	Benign
1	158612856	T	C	T158612856C	SPTA1	NM_003126.4(SPTA1):c.7095A>G:p.Ala2365=	coding	Benign
1	158614301	A	G	A158614301G	SPTA1	NM_003126.4(SPTA1):c.6794T>C:p.Ile2265Thr	coding	Benign
1	158617578	T	C	T158617578C	SPTA1	NM_003126.4(SPTA1):c.6559A>G:p.Lys2187Glu	coding	Benign/Likely_benign
1	158619207	T	A	T158619207A	SPTA1	NM_003126.4(SPTA1):c.6530+15A>T	noncoding	Benign/Likely_benign
1	158622991	G	A	G158622991A	SPTA1	NM_003126.4(SPTA1):c.6112C>T:p.Leu2038=	coding	Benign
1	158623057	G	A	G158623057A	SPTA1	NM_003126.4(SPTA1):c.6046C>T:p.Arg2016Cys	coding	Benign
1	158623111	C	G	C158623111G	SPTA1	NM_003126.4(SPTA1):c.5992G>C:p.Ala1998Pro	coding	Benign
1	158623145	G	A	G158623145A	SPTA1	NM_003126.4(SPTA1):c.5958C>T:p.Pro1986=	coding	Benign
1	158623153	T	A	T158623153A	SPTA1	NM_003126.4(SPTA1):c.5950A>T:p.Arg1984Ter	coding	Pathogenic
1	158627717	G	C	G158627717C	SPTA1	NM_003126.4(SPTA1):c.5572C>G:p.Leu1858Val	coding	Benign/Likely_benign
1	158634601	T	C	T158634601C	SPTA1	NM_003126.4(SPTA1):c.5507A>G:p.Asn1836Ser	coding	Benign
1	158635957	C	T	C158635957T	SPTA1	NM_003126.4(SPTA1):c.5388G>A:p.Gln1796=	coding	Benign/Likely_benign
1	158636659	G	T	G158636659T	SPTA1	NM_003126.4(SPTA1):c.5292C>A:p.Ala1764=	coding	Benign
1	158636695	C	T	C158636695T	SPTA1	NM_003126.4(SPTA1):c.5256G>A:p.Leu1752=	coding	Benign
1	158636763	T	C	T158636763C	SPTA1	NM_003126.2(SPTA1):c.5190_5310del	noncoding	Pathogenic
1	158639587	G	A	G158639587A	SPTA1	NM_003126.4(SPTA1):c.4975C>T:p.Arg1659Ter	coding	Pathogenic
1	158642446	A	G	A158642446G	SPTA1	NM_003126.4(SPTA1):c.4702T>C:p.Cys1568Arg	coding	Benign
1	158642942	G	A	G158642942A	SPTA1	NM_003126.4(SPTA1):c.4477C>T:p.Arg1493Trp	coding	Benign
1	158644390	G	A	G158644390A	SPTA1	NM_003126.4(SPTA1):c.4201C>T:p.Gln1401Ter	coding	Pathogenic
1	158644408	C	T	C158644408T	SPTA1	NM_003126.4(SPTA1):c.4195-12G>A	noncoding	Benign
1	158645502	C	A	C158645502A	SPTA1	NM_003126.4(SPTA1):c.3989G>T:p.Arg1330Ile	coding	Benign/Likely_benign
1	158648530	G	A	G158648530A	SPTA1	NM_003126.4(SPTA1):c.3693C>T:p.Asp1231=	coding	Benign/Likely_benign
1	158648665	G	A	G158648665A	SPTA1	NM_003126.4(SPTA1):c.3570-12C>T	noncoding	Benign
1	158649938	A	C	A158649938C	SPTA1	NM_003126.4(SPTA1):c.3487T>G:p.Ser1163Ala	coding	Benign
1	158652551	C	T	C158652551T	SPTA1	NM_003126.4(SPTA1):c.3291G>A:p.Trp1097Ter	coding	Pathogenic
1	158653269	C	T	C158653269T	SPTA1	NM_003126.4(SPTA1):c.3188+5G>A	noncoding	Pathogenic
1	158653291	C	T	C158653291T	SPTA1	NM_003126.4(SPTA1):c.3171G>A:p.Gln1057=	coding	Benign/Likely_benign
1	158654738	G	T	G158654738T	SPTA1	NM_003126.4(SPTA1):c.2909C>A:p.Ala970Asp	coding	Benign/Likely_benign
1	158656588	C	T	C158656588T	SPTA1	NM_003126.4(SPTA1):c.2874G>A:p.Leu958=	coding	Benign
1	158656592	G	A	G158656592A	SPTA1	NM_003126.4(SPTA1):c.2870C>T:p.Ala957Val	coding	Benign/Likely_benign
1	158656669	A	C	A158656669C	SPTA1	NM_003126.4(SPTA1):c.2806-13T>G	noncoding	Pathogenic
1	158657525	T	C	T158657525C	SPTA1	NM_003126.4(SPTA1):c.2757A>G:p.Glu919=	coding	Benign
1	158661316	G	C	G158661316C	SPTA1	NM_003126.4(SPTA1):c.2558C>G:p.Thr853Arg	coding	Benign
1	158661354	C	G	C158661354G	SPTA1	NM_003126.4(SPTA1):c.2520G>C:p.Glu840Asp	coding	Benign/Likely_benign
1	158661381	A	C	A158661381C	SPTA1	NM_003126.4(SPTA1):c.2493T>G:p.Leu831=	coding	Benign
1	158661402	G	A	G158661402A	SPTA1	NM_003126.4(SPTA1):c.2472C>T:p.Asp824=	coding	Benign/Likely_benign
1	158661410	C	T	C158661410T	SPTA1	NM_003126.4(SPTA1):c.2465-1G>A	coding	Pathogenic
1	158662741	T	C	T158662741C	SPTA1	NM_003126.4(SPTA1):c.2425A>G:p.Ile809Val	coding	Benign
1	158662748	C	T	C158662748T	SPTA1	NM_003126.4(SPTA1):c.2418G>A:p.Glu806=	coding	Benign/Likely_benign
1	158662793	G	T	G158662793T	SPTA1	NM_003126.4(SPTA1):c.2373C>A:p.Asp791Glu	coding	Benign/Likely_benign
1	158662813	G	T	G158662813T	SPTA1	NM_003126.4(SPTA1):c.2353C>A:p.Arg785=	coding	Benign/Likely_benign
1	158662846	G	A	G158662846A	SPTA1	NM_003126.4(SPTA1):c.2320C>T:p.Arg774Ter	coding	Pathogenic
1	158666434	C	T	C158666434T	SPTA1	NM_003126.4(SPTA1):c.2102G>A:p.Arg701His	coding	Benign
1	158669407	C	T	C158669407T	SPTA1	NM_003126.4(SPTA1):c.1833+1G>A	noncoding	Pathogenic
1	158672135	T	G	T158672135G	SPTA1	NM_003126.4(SPTA1):c.1412A>C:p.Gln471Pro	coding	Pathogenic
1	158674315	T	A	T158674315A	SPTA1	NM_003126.4(SPTA1):c.1350+14A>T	noncoding	Benign
1	158676305	G	T	G158676305T	SPTA1	NM_003126.4(SPTA1):c.958-10C>A	noncoding	Benign/Likely_benign
1	158677705	A	T	A158677705T	SPTA1	NM_003126.4(SPTA1):c.942T>A:p.Ala314=	coding	Benign
1	158677732	A	G	A158677732G	SPTA1	NM_003126.4(SPTA1):c.915T>C:p.Ser305=	coding	Benign
1	158677780	A	G	A158677780G	SPTA1	NM_003126.4(SPTA1):c.867T>C:p.Ser289=	coding	Benign
1	158677841	T	A	T158677841A	SPTA1	NM_003126.4(SPTA1):c.813-7A>T	noncoding	Benign
1	158678432	A	G	A158678432G	SPTA1	NM_003126.4(SPTA1):c.781T>C:p.Ser261Pro	coding	Pathogenic
1	158680641	A	G	A158680641G	SPTA1	NM_003126.4(SPTA1):c.620T>C:p.Leu207Pro	coding	Pathogenic
1	158681604	C	T	C158681604T	SPTA1	NM_003126.4(SPTA1):c.454G>A:p.Asp152Asn	coding	Benign
1	158681617	G	A	G158681617A	SPTA1	NM_003126.4(SPTA1):c.441C>T:p.Thr147=	coding	Benign/Likely_benign
1	158683354	A	G	A158683354G	SPTA1	NM_003126.4(SPTA1):c.390+17T>C	noncoding	Benign
1	158685237	C	A	C158685237A	SPTA1	NM_003126.4(SPTA1):c.135G>T:p.Arg45Ser	coding	Pathogenic
1	158685246	G	A	G158685246A	SPTA1	NM_003126.4(SPTA1):c.126C>T:p.Val42=	coding	Benign
1	158685251	G	A	G158685251A	SPTA1	NM_003126.4(SPTA1):c.121C>T:p.Arg41Trp	coding	Pathogenic
1	158685289	C	A	C158685289A	SPTA1	NM_003126.4(SPTA1):c.83G>T:p.Arg28Leu	coding	Pathogenic
1	158685289	C	T	C158685289T	SPTA1	NM_003126.4(SPTA1):c.83G>A:p.Arg28His	coding	Pathogenic
1	158685290	G	A	G158685290A	SPTA1	NM_003126.4(SPTA1):c.82C>T:p.Arg28Cys	coding	Pathogenic
1	158685290	G	T	G158685290T	SPTA1	NM_003126.4(SPTA1):c.82C>A:p.Arg28Ser	coding	Pathogenic
1	158686491	T	C	T158686491C	SPTA1	NM_003126.4(SPTA1):c.24+3A>G	noncoding	Benign
1	158842330	T	C	T158842330C	MNDA	NM_002432.3(MNDA):c.177T>C:p.Val59=	coding	Benign
1	159045460	C	T	C159045460T	IFI16	NM_001376587.1(IFI16):c.1493C>T:p.Thr498Ile	coding	Benign
1	159062694	A	C	A159062694C	AIM2	NM_004833.3(AIM2):c.1030T>G:p.Ter344Glu	coding	Benign
1	159065931	A	G	A159065931G	AIM2	NM_004833.3(AIM2):c.795T>C:p.Asn265=	coding	Benign
1	159065976	C	A	C159065976A	AIM2	NM_004833.3(AIM2):c.750G>T:p.Pro250=	coding	Benign
1	159068562	T	A	T159068562A	AIM2	NM_004833.3(AIM2):c.396+6A>T	noncoding	Benign
1	159073251	C	T	C159073251T	AIM2	NM_004833.3(AIM2):c.249G>A:p.Glu83=	coding	Benign
1	159205564	G	A	G159205564A	ACKR1	NM_002036.4(ACKR1):c.125G>A:p.Gly42Asp	coding	Benign
1	159205704	C	T	C159205704T	ACKR1	NM_002036.4(ACKR1):c.265C>T:p.Arg89Cys	coding	Pathogenic
1	159206153	G	A	G159206153A	ACKR1	NM_002036.4(ACKR1):c.714G>A:p.Gly238=	coding	Benign
1	159304102	A	G	A159304102G	FCER1A	NM_002001.3(FCER1A):c.251A>G:p.Lys84Arg	coding	Benign
1	159304153	G	A	G159304153A	FCER1A	NM_002001.3(FCER1A):c.302G>A:p.Ser101Asn	coding	Benign
1	159304175	C	T	C159304175T	FCER1A	NM_002001.3(FCER1A):c.324C>T:p.Val108=	coding	Benign
1	159306186	C	T	C159306186T	FCER1A	NM_002001.3(FCER1A):c.530C>T:p.Thr177Met	coding	Benign
1	159307899	C	A	C159307899A	FCER1A	NM_002001.3(FCER1A):c.741C>A:p.Asn247Lys	coding	Benign
1	159307919	C	T	C159307919T	FCER1A	NM_002001.3(FCER1A):c.761C>T:p.Pro254Leu	coding	Benign
1	159535412	T	A	T159535412A	OR10J5	NM_001004469.1(OR10J5):c.596A>T:p.Tyr199Phe	coding	Benign
1	159714071	C	T	C159714071T	CRP	NM_000567.3(CRP):c.129G>A:p.Pro43=	coding	Benign
1	159714095	A	C	A159714095C	CRP	NM_000567.3(CRP):c.105T>G:p.Thr35=	coding	Benign
1	159808358	G	A	G159808358A	FCRL6	NM_001004310.3(FCRL6):c.233G>A:p.Arg78His	coding	Benign
1	159809115	C	T	C159809115T	FCRL6	NM_001004310.3(FCRL6):c.474C>T:p.Asp158=	coding	Benign
1	159809674	T	C	T159809674C	FCRL6	NM_001004310.3(FCRL6):c.877T>C:p.Ser293Pro	coding	Benign
1	159815637	C	T	C159815637T	FCRL6	NM_001004310.3(FCRL6):c.1281C>T:p.Ser427=	coding	Benign
1	159886613	T	C	T159886613C	CFAP45	NM_012337.3(CFAP45):c.665A>G:p.Asp222Gly	coding	Benign
1	159952385	C	T	C159952385T	SLAMF9	NM_033438.4(SLAMF9):c.541G>A:p.Glu181Lys	coding	Benign
1	159952436	C	G	C159952436G	SLAMF9	NM_033438.4(SLAMF9):c.490G>C:p.Asp164His	coding	Benign
1	159952473	A	G	A159952473G	SLAMF9	NM_033438.4(SLAMF9):c.453T>C:p.Ser151=	coding	Benign
1	159953444	C	T	C159953444T	SLAMF9	NM_033438.4(SLAMF9):c.256G>A:p.Val86Met	coding	Benign
1	159953605	G	A	G159953605A	SLAMF9	NM_033438.4(SLAMF9):c.95C>T:p.Ala32Val	coding	Benign
1	159953619	G	A	G159953619A	SLAMF9	NM_033438.4(SLAMF9):c.81C>T:p.Ser27=	coding	Benign
1	160030921	C	T	C160030921T	PIGM	NM_145167.3(PIGM):c.819G>A:p.Pro273=	coding	Benign
1	160031158	C	A	C160031158A	PIGM	NM_145167.3(PIGM):c.582G>T:p.Leu194=	coding	Benign
1	160031620	G	A	G160031620A	PIGM	NM_145167.3(PIGM):c.120C>T:p.Asp40=	coding	Benign
1	160031734	G	A	G160031734A	PIGM	NM_145167.3(PIGM):c.6C>T:p.Gly2=	coding	Benign
1	160032009	G	C	G160032009C	PIGM	NM_145167.2(PIGM):c.-270C>G	noncoding	Pathogenic
1	160038143	C	G	C160038143G	KCNJ10	NM_002241.5(KCNJ10):c.*3250G>C	noncoding	Benign/Likely_benign
1	160039331	A	C	A160039331C	KCNJ10	NM_002241.5(KCNJ10):c.*2062T>G	noncoding	Benign
1	160039353	G	C	G160039353C	KCNJ10	NM_002241.5(KCNJ10):c.*2040C>G	noncoding	Benign
1	160039580	G	T	G160039580T	KCNJ10	NM_002241.5(KCNJ10):c.*1813C>A	noncoding	Benign/Likely_benign
1	160039629	A	C	A160039629C	KCNJ10	NM_002241.5(KCNJ10):c.*1764T>G	noncoding	Benign
1	160039895	A	C	A160039895C	KCNJ10	NM_002241.5(KCNJ10):c.*1498T>G	noncoding	Benign/Likely_benign
1	160039963	G	A	G160039963A	KCNJ10	NM_002241.5(KCNJ10):c.*1430C>T	noncoding	Benign/Likely_benign
1	160040025	G	A	G160040025A	KCNJ10	NM_002241.5(KCNJ10):c.*1368C>T	noncoding	Benign/Likely_benign
1	160040361	C	T	C160040361T	KCNJ10	NM_002241.5(KCNJ10):c.*1032G>A	noncoding	Benign/Likely_benign
1	160040366	G	A	G160040366A	KCNJ10	NM_002241.5(KCNJ10):c.*1027C>T	noncoding	Benign/Likely_benign
1	160040980	C	T	C160040980T	KCNJ10	NM_002241.5(KCNJ10):c.*413G>A	noncoding	Benign/Likely_benign
1	160041300	G	A	G160041300A	KCNJ10	NM_002241.5(KCNJ10):c.*93C>T	noncoding	Benign/Likely_benign
1	160041304	G	A	G160041304A	KCNJ10	NM_002241.5(KCNJ10):c.*89C>T	noncoding	Benign/Likely_benign
1	160041606	G	A	G160041606A	KCNJ10	NM_002241.5(KCNJ10):c.927C>T:p.Tyr309=	coding	Benign/Likely_benign
1	160041644	G	A	G160041644A	KCNJ10	NM_002241.5(KCNJ10):c.889C>T:p.Arg297Cys	coding	Pathogenic
1	160041722	G	A	G160041722A	KCNJ10	NM_002241.5(KCNJ10):c.811C>T:p.Arg271Cys	coding	Benign/Likely_benign
1	160041907	A	G	A160041907G	KCNJ10	NM_002241.5(KCNJ10):c.626T>C:p.Ile209Thr	coding	Pathogenic
1	160041932	C	T	C160041932T	KCNJ10	NM_002241.5(KCNJ10):c.601G>A:p.Ala201Thr	coding	Pathogenic
1	160041938	G	A	G160041938A	KCNJ10	NM_002241.5(KCNJ10):c.595C>T:p.Arg199Ter	coding	Pathogenic
1	160041952	G	T	G160041952T	KCNJ10	NM_002241.5(KCNJ10):c.581C>A:p.Pro194His	coding	Pathogenic
1	160042033	G	A	G160042033A	KCNJ10	NM_002241.5(KCNJ10):c.500C>T:p.Ala167Val	coding	Pathogenic
1	160042042	G	A	G160042042A	KCNJ10	NM_002241.5(KCNJ10):c.491C>T:p.Thr164Ile	coding	Pathogenic
1	160042115	A	G	A160042115G	KCNJ10	NM_002241.5(KCNJ10):c.418T>C:p.Cys140Arg	coding	Pathogenic
1	160042299	T	G	T160042299G	KCNJ10	NM_002241.5(KCNJ10):c.234A>C:p.Thr78=	coding	Benign
1	160042304	C	G	C160042304G	KCNJ10	NM_002241.5(KCNJ10):c.229G>C:p.Gly77Arg	coding	Pathogenic
1	160042308	A	C	A160042308C	KCNJ10	NM_002241.5(KCNJ10):c.225T>G:p.Phe75Leu	coding	Pathogenic
1	160042339	C	G	C160042339G	KCNJ10	NM_002241.5(KCNJ10):c.194G>C:p.Arg65Pro	coding	Pathogenic
1	160042340	G	A	G160042340A	KCNJ10	NM_002241.5(KCNJ10):c.193C>T:p.Arg65Cys	coding	Pathogenic
1	160042703	G	A	G160042703A	KCNJ10	NM_002241.5(KCNJ10):c.1-171C>T	noncoding	Benign
1	160070064	C	T	C160070064T	KCNJ10	NM_002241.5(KCNJ10):c.-43G>A	noncoding	Benign/Likely_benign
1	160093741	G	A	G160093741A	IGSF8	NM_052868.6(IGSF8):c.873C>T:p.Ala291=	coding	Benign
1	160115491	A	T	A160115491T	ATP1A2	NC_000001.11:g.160115491A>T	noncoding	Benign
1	160115814	C	G	C160115814G	ATP1A2	NM_000702.4(ATP1A2):c.-48C>G	noncoding	Benign
1	160116078	A	C	A160116078C	ATP1A2	NM_000702.4(ATP1A2):c.12+205A>C	noncoding	Benign
1	160116165	A	C	A160116165C	ATP1A2	NM_000702.4(ATP1A2):c.12+292A>C	noncoding	Benign
1	160120884	T	C	T160120884C	ATP1A2	NM_000702.4(ATP1A2):c.13-22T>C	noncoding	Benign
1	160120918	T	A	T160120918A	ATP1A2	NM_000702.4(ATP1A2):c.25T>A:p.Tyr9Asn	coding	Benign/Likely_benign
1	160121203	G	A	G160121203A	ATP1A2	NM_000702.4(ATP1A2):c.129G>A:p.Lys43=	coding	Benign
1	160121556	G	A	G160121556A	ATP1A2	NM_000702.4(ATP1A2):c.177+305G>A	noncoding	Benign
1	160123281	C	G	C160123281G	ATP1A2	NM_000702.4(ATP1A2):c.246C>G:p.Pro82=	coding	Benign/Likely_benign
1	160123374	C	T	C160123374T	ATP1A2	NM_000702.4(ATP1A2):c.339C>T:p.Tyr113=	coding	Benign/Likely_benign
1	160123375	G	A	G160123375A	ATP1A2	NM_000702.4(ATP1A2):c.340G>A:p.Gly114Ser	coding	Benign/Likely_benign
1	160123432	C	T	C160123432T	ATP1A2	NM_000702.4(ATP1A2):c.381+16C>T	noncoding	Benign
1	160124032	T	C	T160124032C	ATP1A2	NM_000702.4(ATP1A2):c.471T>C:p.Asp157=	coding	Benign/Likely_benign
1	160124121	T	C	T160124121C	ATP1A2	NM_000702.4(ATP1A2):c.495+65T>C	noncoding	Benign
1	160124137	T	A	T160124137A	ATP1A2	NM_000702.4(ATP1A2):c.495+81T>A	noncoding	Benign
1	160124152	G	A	G160124152A	ATP1A2	NM_000702.4(ATP1A2):c.495+96G>A	noncoding	Benign
1	160124371	G	A	G160124371A	ATP1A2	NM_000702.4(ATP1A2):c.571G>A:p.Val191Met	coding	Pathogenic
1	160124553	T	C	T160124553C	ATP1A2	NM_000702.4(ATP1A2):c.630+123T>C	noncoding	Benign
1	160124668	A	G	A160124668G	ATP1A2	NM_000702.4(ATP1A2):c.630+238A>G	noncoding	Benign
1	160124854	A	G	A160124854G	ATP1A2	NM_000702.4(ATP1A2):c.631-282A>G	noncoding	Benign
1	160125165	G	A	G160125165A	ATP1A2	NM_000702.4(ATP1A2):c.660G>A:p.Ser220=	coding	Benign/Likely_benign
1	160125337	T	A	T160125337A	ATP1A2	NM_000702.4(ATP1A2):c.748+84T>A	noncoding	Benign
1	160127525	C	A	C160127525A	ATP1A2	NM_000702.4(ATP1A2):c.749-27C>A	noncoding	Benign
1	160127591	C	T	C160127591T	ATP1A2	NM_000702.4(ATP1A2):c.788C>T:p.Thr263Met	coding	Pathogenic
1	160127660	T	C	T160127660C	ATP1A2	NM_000702.4(ATP1A2):c.857T>C:p.Ile286Thr	coding	Pathogenic
1	160127682	C	G	C160127682G	ATP1A2	NM_000702.4(ATP1A2):c.879C>G:p.Ile293Met	coding	Pathogenic
1	160127704	G	A	G160127704A	ATP1A2	NM_000702.4(ATP1A2):c.901G>A:p.Gly301Arg	coding	Pathogenic
1	160127772	C	T	C160127772T	ATP1A2	NM_000702.4(ATP1A2):c.969C>T:p.Ile323=	coding	Benign/Likely_benign
1	160127876	G	A	G160127876A	ATP1A2	NM_000702.4(ATP1A2):c.1017+56G>A	noncoding	Benign
1	160128667	A	G	A160128667G	ATP1A2	NM_000702.4(ATP1A2):c.1033A>G:p.Thr345Ala	coding	Pathogenic
1	160128725	C	T	C160128725T	ATP1A2	NM_000702.4(ATP1A2):c.1091C>T:p.Thr364Met	coding	Pathogenic
1	160128738	G	A	G160128738A	ATP1A2	NM_000702.4(ATP1A2):c.1104G>A:p.Thr368=	coding	Benign
1	160128753	G	A	G160128753A	ATP1A2	NM_000702.4(ATP1A2):c.1119G>A:p.Ser373=	coding	Benign
1	160128759	G	A	G160128759A	ATP1A2	NM_000702.4(ATP1A2):c.1125G>A:p.Lys375=	coding	Benign
1	160128761	C	T	C160128761T	ATP1A2	NM_000702.4(ATP1A2):c.1127C>T:p.Thr376Met	coding	Pathogenic
1	160128762	G	A	G160128762A	ATP1A2	NM_000702.4(ATP1A2):c.1128G>A:p.Thr376=	coding	Benign/Likely_benign
1	160128837	C	T	C160128837T	ATP1A2	NM_000702.4(ATP1A2):c.1203C>T:p.Thr401=	coding	Benign/Likely_benign
1	160128855	T	G	T160128855G	ATP1A2	NM_000702.4(ATP1A2):c.1216+5T>G	noncoding	Benign
1	160129024	C	T	C160129024T	ATP1A2	NM_000702.4(ATP1A2):c.1261C>T:p.Arg421Ter	coding	Pathogenic/Likely_pathogenic
1	160129050	C	T	C160129050T	ATP1A2	NM_000702.4(ATP1A2):c.1287C>T:p.Ala429=	coding	Benign
1	160129080	C	T	C160129080T	ATP1A2	NM_000702.4(ATP1A2):c.1317C>T:p.Ser439=	coding	Benign/Likely_benign
1	160130110	C	T	C160130110T	ATP1A2	NM_000702.4(ATP1A2):c.1470C>T:p.Ile490=	coding	Benign/Likely_benign
1	160130212	G	A	G160130212A	ATP1A2	NM_000702.4(ATP1A2):c.1572G>A:p.Glu524=	coding	Benign/Likely_benign
1	160130282	C	T	C160130282T	ATP1A2	NM_000702.4(ATP1A2):c.1642C>T:p.Arg548Cys	coding	Pathogenic
1	160130283	G	A	G160130283A	ATP1A2	NM_000702.4(ATP1A2):c.1643G>A:p.Arg548His	coding	Pathogenic
1	160130404	C	A	C160130404A	ATP1A2	NM_000702.4(ATP1A2):c.1652-18C>A	noncoding	Benign
1	160130411	C	G	C160130411G	ATP1A2	NM_000702.4(ATP1A2):c.1652-11C>G	noncoding	Benign
1	160130415	C	A	C160130415A	ATP1A2	NM_000702.4(ATP1A2):c.1652-7C>A	noncoding	Benign/Likely_benign
1	160130415	C	G	C160130415G	ATP1A2	NM_000702.4(ATP1A2):c.1652-7C>G	noncoding	Benign
1	160130474	C	T	C160130474T	ATP1A2	NM_000702.4(ATP1A2):c.1704C>T:p.Phe568=	coding	Benign
1	160130513	C	A	C160130513A	ATP1A2	NM_000702.4(ATP1A2):c.1743C>A:p.Cys581Ter	coding	Pathogenic
1	160130531	T	C	T160130531C	ATP1A2	NM_000702.4(ATP1A2):c.1761T>C:p.Ser587=	coding	Benign/Likely_benign
1	160130548	G	A	G160130548A	ATP1A2	NM_000702.4(ATP1A2):c.1778G>A:p.Arg593Gln	coding	Pathogenic
1	160130586	G	A	G160130586A	ATP1A2	NM_000702.4(ATP1A2):c.1816G>A:p.Ala606Thr	coding	Pathogenic
1	160134538	G	A	G160134538A	ATP1A2	NM_000702.4(ATP1A2):c.1882G>A:p.Val628Met	coding	Pathogenic
1	160134931	A	C	A160134931C	ATP1A2	NM_000702.4(ATP1A2):c.1965-214A>C	noncoding	Benign
1	160135160	C	T	C160135160T	ATP1A2	NM_000702.4(ATP1A2):c.1980C>T:p.Cys660=	coding	Benign
1	160135309	C	T	C160135309T	ATP1A2	NM_000702.4(ATP1A2):c.2115+14C>T	noncoding	Benign
1	160135426	C	G	C160135426G	ATP1A2	NM_000702.4(ATP1A2):c.2116-8C>G	noncoding	Benign
1	160135448	C	T	C160135448T	ATP1A2	NM_000702.4(ATP1A2):c.2130C>T:p.Ala710=	coding	Benign/Likely_benign
1	160135460	C	T	C160135460T	ATP1A2	NM_000702.4(ATP1A2):c.2142C>T:p.Asp714=	coding	Benign/Likely_benign
1	160135461	G	A	G160135461A	ATP1A2	NM_000702.4(ATP1A2):c.2143G>A:p.Gly715Arg	coding	Pathogenic/Likely_pathogenic
1	160135469	C	A	C160135469A	ATP1A2	NM_000702.4(ATP1A2):c.2151C>A:p.Asn717Lys	coding	Pathogenic
1	160135470	G	A	G160135470A	ATP1A2	NM_000702.4(ATP1A2):c.2152G>A:p.Asp718Asn	coding	Pathogenic
1	160135510	T	C	T160135510C	ATP1A2	NM_000702.4(ATP1A2):c.2192T>C:p.Met731Thr	coding	Pathogenic
1	160135577	C	T	C160135577T	ATP1A2	NM_000702.4(ATP1A2):c.2259C>T:p.Ala753=	coding	Benign
1	160135620	G	T	G160135620T	ATP1A2	NM_000702.4(ATP1A2):c.2284+18G>T	noncoding	Benign
1	160135845	T	C	T160135845C	ATP1A2	NM_000702.4(ATP1A2):c.2291T>C:p.Leu764Pro	coding	Pathogenic
1	160135999	C	T	C160135999T	ATP1A2	NM_000702.4(ATP1A2):c.2439+6C>T	noncoding	Benign
1	160136307	C	T	C160136307T	ATP1A2	NM_000702.4(ATP1A2):c.2500C>T:p.Arg834Ter	coding	Pathogenic
1	160136321	G	A	G160136321A	ATP1A2	NM_000702.4(ATP1A2):c.2514G>A:p.Thr838=	coding	Benign/Likely_benign
1	160136370	G	A	G160136370A	ATP1A2	NM_000702.4(ATP1A2):c.2563G>A:p.Gly855Arg	coding	Pathogenic
1	160136374	C	T	C160136374T	ATP1A2	NM_000702.4(ATP1A2):c.2563+4C>T	noncoding	Benign
1	160136562	A	G	A160136562G	ATP1A2	NM_000702.4(ATP1A2):c.2564-8A>G	noncoding	Benign/Likely_benign
1	160136665	T	C	T160136665C	ATP1A2	NM_000702.4(ATP1A2):c.2659T>C:p.Trp887Arg	coding	Pathogenic
1	160136726	C	T	C160136726T	ATP1A2	NM_000702.4(ATP1A2):c.2709+11C>T	noncoding	Benign
1	160139668	G	T	G160139668T	ATP1A2	NM_000702.4(ATP1A2):c.2869G>T:p.Glu957Ter	coding	Pathogenic
1	160139676	G	A	G160139676A	ATP1A2	NM_000702.4(ATP1A2):c.2877G>A:p.Thr959=	coding	Benign
1	160139736	G	T	G160139736T	ATP1A2	NM_000702.4(ATP1A2):c.2937G>T:p.Pro979=	coding	Benign
1	160139878	C	T	C160139878T	ATP1A2	NM_000702.4(ATP1A2):c.2943-15C>T	noncoding	Benign
1	160139911	C	T	C160139911T	ATP1A2	NM_000702.4(ATP1A2):c.2961C>T:p.Cys987=	coding	Benign
1	160139917	C	T	C160139917T	ATP1A2	NM_000702.4(ATP1A2):c.2967C>T:p.Phe989=	coding	Benign/Likely_benign
1	160139955	G	A	G160139955A	ATP1A2	NM_000702.4(ATP1A2):c.3005G>A:p.Arg1002Gln	coding	Pathogenic/Likely_pathogenic
1	160139998	C	T	C160139998T	ATP1A2	NM_000702.4(ATP1A2):c.3034+14C>T	noncoding	Benign
1	160141337	G	A	G160141337A	ATP1A2	NM_000702.4(ATP1A2):c.*15G>A	noncoding	Benign/Likely_benign
1	160141394	G	A	G160141394A	ATP1A2	NM_000702.4(ATP1A2):c.*72G>A	noncoding	Benign
1	160141408	G	A	G160141408A	ATP1A2	NM_000702.4(ATP1A2):c.*86G>A	noncoding	Benign
1	160141464	A	G	A160141464G	ATP1A2	NM_000702.4(ATP1A2):c.*142A>G	noncoding	Benign
1	160141575	C	T	C160141575T	ATP1A2	NM_000702.4(ATP1A2):c.*253C>T	noncoding	Benign
1	160141804	A	C	A160141804C	ATP1A2	NM_000702.4(ATP1A2):c.*482A>C	noncoding	Benign
1	160141868	G	A	G160141868A	ATP1A2	NM_000702.4(ATP1A2):c.*546G>A	noncoding	Benign
1	160141911	G	C	G160141911C	ATP1A2	NM_000702.4(ATP1A2):c.*589G>C	noncoding	Benign
1	160141943	A	G	A160141943G	ATP1A2	NM_000702.4(ATP1A2):c.*621A>G	noncoding	Benign
1	160142004	T	C	T160142004C	ATP1A2	NM_000702.4(ATP1A2):c.*682T>C	noncoding	Benign
1	160142008	G	A	G160142008A	ATP1A2	NM_000702.4(ATP1A2):c.*686G>A	noncoding	Benign
1	160142025	G	A	G160142025A	ATP1A2	NM_000702.4(ATP1A2):c.*703G>A	noncoding	Benign
1	160142068	C	T	C160142068T	ATP1A2	NM_000702.4(ATP1A2):c.*746C>T	noncoding	Benign
1	160142070	C	T	C160142070T	ATP1A2	NM_000702.4(ATP1A2):c.*748C>T	noncoding	Benign
1	160142322	T	A	T160142322A	ATP1A2	NM_000702.4(ATP1A2):c.*1000T>A	noncoding	Benign/Likely_benign
1	160142322	T	G	T160142322G	ATP1A2	NM_000702.4(ATP1A2):c.*1000T>G	noncoding	Benign
1	160142348	A	G	A160142348G	ATP1A2	NM_000702.4(ATP1A2):c.*1026A>G	noncoding	Benign
1	160142417	T	A	T160142417A	ATP1A2	NM_000702.4(ATP1A2):c.*1095T>A	noncoding	Benign
1	160142533	C	A	C160142533A	ATP1A2	NM_000702.4(ATP1A2):c.*1211C>A	noncoding	Benign
1	160142534	G	C	G160142534C	ATP1A2	NM_000702.4(ATP1A2):c.*1212G>C	noncoding	Benign
1	160142869	G	T	G160142869T	ATP1A2	NM_000702.4(ATP1A2):c.*1547G>T	noncoding	Benign
1	160142870	C	T	C160142870T	ATP1A2	NM_000702.4(ATP1A2):c.*1548C>T	noncoding	Benign
1	160142951	T	C	T160142951C	ATP1A2	NM_000702.4(ATP1A2):c.*1629T>C	noncoding	Benign
1	160143102	G	A	G160143102A	ATP1A2	NM_000702.4(ATP1A2):c.*1780G>A	noncoding	Benign
1	160143103	C	T	C160143103T	ATP1A2	NM_000702.4(ATP1A2):c.*1781C>T	noncoding	Benign
1	160143581	T	A	T160143581A	ATP1A2	NM_000702.4(ATP1A2):c.*2259T>A	noncoding	Benign
1	160152046	G	A	G160152046A	ATP1A4	NM_144699.4(ATP1A4):c.6G>A:p.Gly2=	coding	Benign
1	160152095	C	A	C160152095A	ATP1A4	NM_144699.4(ATP1A4):c.55C>A:p.Arg19=	coding	Benign
1	160155152	C	T	C160155152T	ATP1A4	NM_144699.4(ATP1A4):c.315C>T:p.Phe105=	coding	Benign
1	160158998	A	C	A160158998C	ATP1A4	NM_144699.4(ATP1A4):c.526-4A>C	noncoding	Benign
1	160171381	T	G	T160171381G	ATP1A4	NM_144699.4(ATP1A4):c.1622T>G:p.Met541Arg	coding	Benign
1	160171735	A	G	A160171735G	ATP1A4	NM_144699.4(ATP1A4):c.1832A>G:p.Lys611Arg	coding	Benign
1	160190778	C	A	C160190778A	CASQ1	NM_001231.5(CASQ1):c.27C>A:p.Pro9=	coding	Benign
1	160190881	G	A	G160190881A	CASQ1	NM_001231.5(CASQ1):c.130G>A:p.Asp44Asn	coding	Benign
1	160190966	A	G	A160190966G	CASQ1	NM_001231.5(CASQ1):c.215A>G:p.His72Arg	coding	Benign
1	160190988	G	A	G160190988A	CASQ1	NM_001231.5(CASQ1):c.237G>A:p.Lys79=	coding	Benign
1	160192895	G	T	G160192895T	CASQ1	NM_001231.5(CASQ1):c.364+9G>T	noncoding	Benign
1	160193801	A	T	A160193801T	CASQ1	NM_001231.5(CASQ1):c.419A>T:p.Tyr140Phe	coding	Benign
1	160193829	C	T	C160193829T	CASQ1	NM_001231.5(CASQ1):c.447C>T:p.Ile149=	coding	Benign
1	160195062	G	A	G160195062A	CASQ1	NM_001231.5(CASQ1):c.516G>A:p.Ala172=	coding	Benign
1	160195456	C	G	C160195456G	CASQ1	NM_001231.5(CASQ1):c.578-5C>G	noncoding	Benign
1	160195976	A	G	A160195976G	CASQ1	NM_001231.5(CASQ1):c.731A>G:p.Asp244Gly	coding	Pathogenic
1	160237145	G	A	G160237145A	DCAF8	NM_015726.4(DCAF8):c.949C>T:p.Arg317Cys	coding	Pathogenic
1	160238649	C	T	C160238649T	DCAF8	NM_015726.4(DCAF8):c.822G>A:p.Lys274=	coding	Benign
1	160238682	T	C	T160238682C	DCAF8	NM_015726.4(DCAF8):c.789A>G:p.Arg263=	coding	Benign
1	160276914	C	T	C160276914T	PEX19	NM_002857.3(PEX19):c.*2637G>A	noncoding	Benign
1	160277134	G	A	G160277134A	PEX19	NM_002857.4(PEX19):c.*2417C>T	noncoding	Benign
1	160277198	C	A	C160277198A	PEX19	NM_002857.3(PEX19):c.*2353G>T	noncoding	Benign
1	160277395	G	C	G160277395C	PEX19	NM_002857.3(PEX19):c.*2156C>G	noncoding	Benign
1	160278080	T	A	T160278080A	PEX19	NM_002857.4(PEX19):c.*1471A>T	noncoding	Benign
1	160278467	A	G	A160278467G	PEX19	NM_002857.3(PEX19):c.*1084T>C	noncoding	Benign
1	160278653	T	C	T160278653C	PEX19	NM_002857.3(PEX19):c.*898A>G	noncoding	Benign
1	160279064	A	T	A160279064T	PEX19	NM_002857.3(PEX19):c.*487T>A	noncoding	Benign
1	160279223	T	C	T160279223C	PEX19	NM_002857.3(PEX19):c.*328A>G	noncoding	Benign
1	160279572	A	G	A160279572G	PEX19	NM_002857.3(PEX19):c.879T>C:p.Gly293=	coding	Benign/Likely_benign
1	160279842	G	A	G160279842A	PEX19	NM_002857.3(PEX19):c.775C>T:p.Gln259Ter	coding	Pathogenic
1	160280067	T	C	T160280067C	PEX19	NM_002857.3(PEX19):c.771+3A>G	noncoding	Benign/Likely_benign
1	160282211	C	A	C160282211A	PEX19	NM_002857.3(PEX19):c.433-11G>T	noncoding	Benign
1	160282930	T	C	T160282930C	PEX19	NM_002857.4(PEX19):c.346+14A>G	noncoding	Benign
1	160283124	T	C	T160283124C	PEX19	NM_002857.3(PEX19):c.181-15A>G	noncoding	Benign
1	160285095	G	A	G160285095A	PEX19	NM_002857.3(PEX19):c.30C>T:p.Val10=	coding	Benign/Likely_benign
1	160285138	A	C	A160285138C	PEX19	NM_002857.3(PEX19):c.-14T>G	noncoding	Benign
1	160292540	T	G	T160292540G	COPA	NM_004371.4(COPA):c.2904A>C:p.Thr968=	coding	Benign
1	160293382	T	C	T160293382C	COPA	NM_004371.4(COPA):c.2754+4A>G	noncoding	Benign
1	160294790	A	G	A160294790G	COPA	NM_004371.4(COPA):c.2544T>C:p.Asp848=	coding	Benign
1	160296094	G	A	G160296094A	COPA	NM_004371.4(COPA):c.2319C>T:p.Ser773=	coding	Benign
1	160297336	T	C	T160297336C	COPA	NM_004371.4(COPA):c.2263+7A>G	noncoding	Benign
1	160299191	G	A	G160299191A	COPA	NM_004371.4(COPA):c.1741C>T:p.Leu581=	coding	Benign
1	160311939	A	G	A160311939G	COPA	NM_004371.4(COPA):c.1005T>C:p.Tyr335=	coding	Benign
1	160311950	T	C	T160311950C	COPA	NM_004371.4(COPA):c.994A>G:p.Met332Val	coding	Benign
1	160314104	T	C	T160314104C	COPA	NM_004371.4(COPA):c.728A>G:p.Asp243Gly	coding	Pathogenic
1	160314111	C	T	C160314111T	COPA	NM_004371.4(COPA):c.721G>A:p.Glu241Lys	coding	Pathogenic
1	160323439	C	T	C160323439T	COPA	NM_004371.4(COPA):c.698G>A:p.Arg233His	coding	Pathogenic
1	160323447	C	A	C160323447A	COPA	NM_004371.4(COPA):c.690G>T:p.Lys230Asn	coding	Pathogenic
1	160325567	A	G	A160325567G	COPA	NM_004371.4(COPA):c.582T>C:p.Asp194=	coding	Benign
1	160332508	T	C	T160332508C	COPA	NM_004371.4(COPA):c.436A>G:p.Thr146Ala	coding	Benign
1	160332545	C	T	C160332545T	COPA	NM_004371.4(COPA):c.399G>A:p.Gly133=	coding	Benign
1	160335254	C	T	C160335254T	COPA	NM_004371.4(COPA):c.297G>A:p.Thr99=	coding	Benign
1	160339945	T	C	T160339945C	COPA	NM_004371.4(COPA):c.192A>G:p.Pro64=	coding	Benign
1	160349009	T	C	T160349009C	NCSTN	NM_015331.3(NCSTN):c.201T>C:p.Ser67=	coding	Benign
1	160349039	G	C	G160349039C	NCSTN	NM_015331.3(NCSTN):c.231G>C:p.Glu77Asp	coding	Benign
1	160349045	G	A	G160349045A	NCSTN	NM_015331.3(NCSTN):c.237G>A:p.Glu79=	coding	Benign
1	160349583	C	T	C160349583T	NCSTN	NM_015331.3(NCSTN):c.349C>T:p.Arg117Ter	coding	Pathogenic
1	160351275	A	G	A160351275G	NCSTN	NM_015331.3(NCSTN):c.636A>G:p.Leu212=	coding	Benign
1	160352973	A	G	A160352973G	NCSTN	NM_015331.3(NCSTN):c.1083A>G:p.Ser361=	coding	Benign
1	160352992	G	A	G160352992A	NCSTN	NM_015331.3(NCSTN):c.1101+1G>A	coding	Pathogenic
1	160354238	C	T	C160354238T	NCSTN	NM_015331.3(NCSTN):c.1300C>T:p.Arg434Ter	coding	Pathogenic
1	160354252	C	T	C160354252T	NCSTN	NM_015331.3(NCSTN):c.1314C>T:p.Gly438=	coding	Benign
1	160355932	G	A	G160355932A	NCSTN	NM_015331.3(NCSTN):c.1525G>A:p.Asp509Asn	coding	Benign
1	160355959	G	A	G160355959A	NCSTN	NM_015331.3(NCSTN):c.1551+1G>A	coding	Pathogenic
1	160356670	C	T	C160356670T	NCSTN	NM_015331.3(NCSTN):c.1710C>T:p.Ala570=	coding	Benign
1	160421119	C	T	C160421119T	VANGL2	NM_020335.3(VANGL2):c.1005C>T:p.Asp335=	coding	Benign
1	160424220	C	T	C160424220T	VANGL2	NM_020335.3(VANGL2):c.1242C>T:p.Tyr414=	coding	Benign
1	160425140	C	T	C160425140T	VANGL2	NM_020335.3(VANGL2):c.1328C>T:p.Ala443Val	coding	Benign
1	160612502	G	A	G160612502A	SLAMF1	NM_001330754.1(SLAMF1):c.1026C>T:p.Ser342=	coding	Benign
1	160612529	T	C	T160612529C	SLAMF1	NM_001330754.1(SLAMF1):c.999A>G:p.Pro333=	coding	Benign
1	160681129	C	A	C160681129A	CD48	NM_001778.4(CD48):c.652+73G>T	coding	Benign
1	160685002	C	T	C160685002T	CD48	NM_001778.4(CD48):c.270G>A:p.Gln90=	coding	Benign
1	160685184	A	G	A160685184G	CD48	NM_001778.4(CD48):c.88T>C:p.Leu30=	coding	Benign
1	160749967	C	T	C160749967T	SLAMF7	NM_021181.5(SLAMF7):c.523C>T:p.His175Tyr	coding	Benign
1	160813767	C	A	C160813767A	LY9	NM_002348.4(LY9):c.586C>A:p.Pro196Thr	coding	Benign
1	160839020	T	C	T160839020C	CD244	NM_016382.4(CD244):c.685A>G:p.Ile229Val	coding	Benign
1	160862639	G	A	G160862639A	CD244	NM_016382.4(CD244):c.39C>T:p.Leu13=	coding	Benign
1	160879371	G	A	G160879371A	ITLN1	NM_017625.3(ITLN1):c.729C>T:p.Asn243=	coding	Benign
1	160880643	G	T	G160880643T	ITLN1	NM_017625.3(ITLN1):c.630C>A:p.Val210=	coding	Benign
1	160881265	G	A	G160881265A	ITLN1	NM_017625.3(ITLN1):c.453C>T:p.His151=	coding	Benign
1	160882020	G	A	G160882020A	ITLN1	NM_017625.3(ITLN1):c.342C>T:p.Asp114=	coding	Benign
1	160883522	C	T	C160883522T	ITLN1	NM_017625.3(ITLN1):c.63G>A:p.Glu21=	coding	Benign
1	160950582	G	A	G160950582A	ITLN2	NM_080878.3(ITLN2):c.571C>T:p.Leu191=	coding	Benign
1	160950641	T	C	T160950641C	ITLN2	NM_080878.3(ITLN2):c.512A>G:p.Gln171Arg	coding	Benign
1	160951112	C	T	C160951112T	ITLN2	NM_080878.3(ITLN2):c.372G>A:p.Glu124=	coding	Benign
1	161000299	C	T	C161000299T	F11R	NM_016946.6(F11R):c.438G>A:p.Gly146=	coding	Benign
1	161072856	G	A	G161072856A	NECTIN4	NM_030916.3(NECTIN4):c.1338C>T:p.Ser446=	coding	Benign
1	161073297	C	T	C161073297T	NECTIN4	NM_030916.3(NECTIN4):c.1236G>A:p.Pro412=	coding	Benign
1	161076355	C	T	C161076355T	NECTIN4	NM_030916.3(NECTIN4):c.851G>A:p.Arg284Gln	coding	Pathogenic
1	161077459	C	T	C161077459T	NECTIN4	NM_030916.3(NECTIN4):c.724G>A:p.Val242Met	coding	Pathogenic
1	161077548	G	C	G161077548C	NECTIN4	NM_030916.3(NECTIN4):c.635C>G:p.Pro212Arg	coding	Pathogenic
1	161077629	G	A	G161077629A	NECTIN4	NM_030916.3(NECTIN4):c.554C>T:p.Thr185Met	coding	Pathogenic
1	161079800	G	A	G161079800A	NECTIN4	NM_030916.3(NECTIN4):c.229C>T:p.Gln77Ter	coding	Pathogenic
1	161079848	G	A	G161079848A	NECTIN4	NM_030916.3(NECTIN4):c.181C>T:p.Gln61Ter	coding	Pathogenic
1	161154065	G	A	G161154065A	UFC1	NM_016406.4(UFC1):c.68G>A:p.Arg23Gln	coding	Pathogenic
1	161157678	C	T	C161157678T	UFC1	NM_016406.4(UFC1):c.317C>T:p.Thr106Ile	coding	Pathogenic
1	161166434	C	A	C161166434A	PPOX	NM_001122764.3(PPOX):c.-247C>A	noncoding	Benign
1	161166849	T	C	T161166849C	PPOX	NM_001122764.3(PPOX):c.2T>C:p.Met1Thr	coding	Pathogenic
1	161166882	T	C	T161166882C	PPOX	NM_001122764.3(PPOX):c.35T>C:p.Ile12Thr	coding	Pathogenic
1	161166906	A	C	A161166906C	PPOX	NM_001122764.3(PPOX):c.59A>C:p.His20Pro	coding	Pathogenic
1	161166925	C	A	C161166925A	PPOX	NM_001122764.3(PPOX):c.78C>A:p.Cys26Ter	coding	Pathogenic
1	161167187	C	T	C161167187T	PPOX	NM_001122764.3(PPOX):c.175C>T:p.Arg59Trp	coding	Pathogenic
1	161167487	G	A	G161167487A	PPOX	NM_001122764.3(PPOX):c.338+1G>A	coding	Pathogenic
1	161168110	C	T	C161168110T	PPOX	NM_001122764.3(PPOX):c.454C>T:p.Arg152Cys	coding	Pathogenic
1	161168462	C	T	C161168462T	PPOX	NM_001122764.3(PPOX):c.502C>T:p.Arg168Cys	coding	Pathogenic
1	161168463	G	A	G161168463A	PPOX	NM_001122764.3(PPOX):c.503G>A:p.Arg168His	coding	Pathogenic
1	161168525	C	T	C161168525T	PPOX	NM_001122764.3(PPOX):c.565C>T:p.Gln189Ter	coding	Pathogenic
1	161169070	G	C	G161169070C	PPOX	NM_001122764.3(PPOX):c.694G>C:p.Gly232Arg	coding	Pathogenic
1	161169948	G	A	G161169948A	PPOX	NM_001122764.3(PPOX):c.911G>A:p.Arg304His	coding	Benign
1	161170467	A	C	A161170467C	PPOX	NM_001122764.3(PPOX):c.1046A>C:p.Asp349Ala	coding	Pathogenic
1	161170493	G	A	G161170493A	PPOX	NM_001122764.3(PPOX):c.1072G>A:p.Gly358Arg	coding	Pathogenic
1	161170727	A	C	A161170727C	PPOX	NM_001122764.3(PPOX):c.1206A>C:p.Gly402=	coding	Benign
1	161170939	G	A	G161170939A	PPOX	NM_001122764.3(PPOX):c.1281G>A:p.Trp427Ter	coding	Pathogenic
1	161170950	G	C	G161170950C	PPOX	NM_001122764.3(PPOX):c.1291+1G>C	coding	Pathogenic
1	161171095	T	G	T161171095G	PPOX	NM_001122764.3(PPOX):c.1353T>G:p.Tyr451Ter	coding	Pathogenic
1	161191082	T	C	T161191082C	ADAMTS4	NM_005099.6(ADAMTS4):c.*56A>G	noncoding	Benign
1	161199375	G	T	G161199375T	NDUFS2	NM_004550.4(NDUFS2):c.-388G>T	noncoding	Benign
1	161202443	C	A	C161202443A	NDUFS2	NM_004550.4(NDUFS2):c.58C>A:p.Pro20Thr	coding	Benign
1	161202489	G	C	G161202489C	NDUFS2	NM_004550.4(NDUFS2):c.95+9G>C	noncoding	Benign/Likely_benign
1	161202735	C	T	C161202735T	NDUFS2	NM_004550.4(NDUFS2):c.95+255C>T	noncoding	Benign
1	161203518	C	T	C161203518T	NDUFS2	NM_004550.4(NDUFS2):c.177C>T:p.Ala59=	coding	Benign/Likely_benign
1	161206729	G	A	G161206729A	NDUFS2	NM_004550.4(NDUFS2):c.393+132G>A	noncoding	Benign
1	161208894	T	C	T161208894C	NDUFS2	NM_004550.4(NDUFS2):c.394-299T>C	noncoding	Benign
1	161209241	G	A	G161209241A	NDUFS2	NM_001377299.1(NDUFS2):c.442G>A:p.Glu148Lys	coding	Pathogenic
1	161209912	G	A	G161209912A	NDUFS2	NM_004550.4(NDUFS2):c.683G>A:p.Arg228Gln	coding	Pathogenic
1	161209915	C	A	C161209915A	NDUFS2	NM_004550.4(NDUFS2):c.686C>A:p.Pro229Gln	coding	Pathogenic
1	161210722	A	G	A161210722G	NDUFS2	NM_004550.4(NDUFS2):c.986+12A>G	noncoding	Benign/Likely_benign
1	161212694	A	G	A161212694G	NDUFS2	NM_004550.4(NDUFS2):c.1116+214A>G	noncoding	Benign
1	161213673	T	C	T161213673C	NDUFS2	NM_004550.4(NDUFS2):c.1237T>C:p.Ser413Pro	coding	Pathogenic
1	161213726	C	T	C161213726T	NDUFS2	NM_004550.4(NDUFS2):c.1290C>T:p.Ala430=	coding	Benign
1	161214307	A	G	A161214307G	NDUFS2	NM_004550.4(NDUFS2):c.*114A>G	noncoding	Benign
1	161222420	C	T	C161222420T	APOA2	NM_001643.2(APOA2):c.288G>A:p.Gln96=	coding	Benign
1	161222461	G	A	G161222461A	APOA2	NM_001643.2(APOA2):c.247C>T:p.Leu83=	coding	Benign
1	161222526	G	A	G161222526A	APOA2	NM_001643.2(APOA2):c.186-4C>T	noncoding	Benign
1	161222917	C	T	C161222917T	APOA2	NM_001643.2(APOA2):c.185+1G>A	noncoding	Pathogenic
1	161229789	G	A	G161229789A	NR1I3	NM_005122.5(NR1I3):c.*8C>T	coding	Benign
1	161229866	G	A	G161229866A	NR1I3	NM_005122.5(NR1I3):c.978C>T:p.Tyr326=	coding	Benign
1	161229914	C	T	C161229914T	NR1I3	NM_005122.5(NR1I3):c.930G>A:p.Ala310=	coding	Benign
1	161230796	T	G	T161230796G	NR1I3	NM_005122.5(NR1I3):c.917+17A>C	noncoding	Benign
1	161232815	G	A	G161232815A	NR1I3	NM_005122.5(NR1I3):c.540C>T:p.Pro180=	coding	Benign
1	161233288	G	A	G161233288A	NR1I3	NM_005122.5(NR1I3):c.289C>T:p.Arg97Trp	coding	Benign
1	161283731	G	T	G161283731T	PCP4L1	NM_001102566.2(PCP4L1):c.64+9G>T	noncoding	Benign
1	161284466	G	A	G161284466A	PCP4L1	NM_001102566.2(PCP4L1):c.192G>A:p.Lys64=	coding	Benign
1	161305115	T	C	T161305115C	MPZ	NM_000530.8(MPZ):c.*761A>G	noncoding	Benign
1	161305252	G	A	G161305252A	MPZ	NM_000530.8(MPZ):c.*624C>T	noncoding	Benign/Likely_benign
1	161305308	G	C	G161305308C	MPZ	NM_000530.8(MPZ):c.*568C>G	noncoding	Benign/Likely_benign
1	161305939	G	A	G161305939A	MPZ	NM_000530.8(MPZ):c.684C>T:p.Ser228=	coding	Benign/Likely_benign
1	161305942	T	A	T161305942A	MPZ	NM_000530.8(MPZ):c.681A>T:p.Arg227Ser	coding	Pathogenic
1	161305953	C	A	C161305953A	MPZ	NM_000530.8(MPZ):c.670G>T:p.Asp224Tyr	coding	Pathogenic
1	161306110	G	A	G161306110A	MPZ	NM_000530.8(MPZ):c.643C>T:p.Gln215Ter	coding	Pathogenic
1	161306153	C	T	C161306153T	MPZ	NM_000530.8(MPZ):c.600G>A:p.Gly200=	coding	Benign
1	161306170	T	A	T161306170A	MPZ	NM_000530.8(MPZ):c.585-2A>T	noncoding	Pathogenic
1	161306327	A	C	A161306327C	MPZ	NM_000530.8(MPZ):c.584+2T>G	noncoding	Pathogenic
1	161306409	C	T	C161306409T	MPZ	NM_000530.8(MPZ):c.504G>A:p.Val168=	coding	Benign/Likely_benign
1	161306414	C	G	C161306414G	MPZ	NM_000530.8(MPZ):c.499G>C:p.Gly167Arg	coding	Pathogenic
1	161306414	C	T	C161306414T	MPZ	NM_000530.8(MPZ):c.499G>A:p.Gly167Arg	coding	Pathogenic
1	161306426	C	G	C161306426G	MPZ	NM_000530.8(MPZ):c.487G>C:p.Gly163Arg	coding	Pathogenic/Likely_pathogenic
1	161306426	C	T	C161306426T	MPZ	NM_000530.8(MPZ):c.487G>A:p.Gly163Arg	coding	Pathogenic
1	161306468	G	A	G161306468A	MPZ	NM_000530.8(MPZ):c.449-4C>T	noncoding	Benign
1	161306586	G	A	G161306586A	MPZ	NM_000530.8(MPZ):c.448+122C>T	noncoding	Benign
1	161306644	A	G	A161306644G	MPZ	NM_000530.8(MPZ):c.448+64T>C	noncoding	Benign
1	161306721	A	T	A161306721T	MPZ	NM_000530.8(MPZ):c.435T>A:p.Tyr145Ter	coding	Pathogenic/Likely_pathogenic
1	161306722	T	G	T161306722G	MPZ	NM_000530.8(MPZ):c.434A>C:p.Tyr145Ser	coding	Pathogenic
1	161306738	A	T	A161306738T	MPZ	NM_000530.8(MPZ):c.418T>A:p.Ser140Thr	coding	Pathogenic/Likely_pathogenic
1	161306745	G	A	G161306745A	MPZ	NM_000530.8(MPZ):c.411C>T:p.Gly137=	coding	Pathogenic
1	161306746	C	T	C161306746T	MPZ	NM_000530.8(MPZ):c.410G>A:p.Gly137Asp	coding	Pathogenic
1	161306752	A	G	A161306752G	MPZ	NM_000530.8(MPZ):c.404T>C:p.Ile135Thr	coding	Pathogenic
1	161306753	T	G	T161306753G	MPZ	NM_000530.8(MPZ):c.403A>C:p.Ile135Leu	coding	Pathogenic
1	161306759	G	T	G161306759T	MPZ	NM_000530.8(MPZ):c.397C>A:p.Pro133Thr	coding	Pathogenic/Likely_pathogenic
1	161306763	G	T	G161306763T	MPZ	NM_000530.8(MPZ):c.393C>A:p.Asn131Lys	coding	Pathogenic
1	161306776	C	G	C161306776G	MPZ	NM_000530.8(MPZ):c.380G>C:p.Cys127Ser	coding	Pathogenic
1	161306785	G	A	G161306785A	MPZ	NM_000530.8(MPZ):c.371C>T:p.Thr124Met	coding	Pathogenic
1	161306785	G	T	G161306785T	MPZ	NM_000530.8(MPZ):c.371C>A:p.Thr124Lys	coding	Pathogenic
1	161306795	C	T	C161306795T	MPZ	NM_000530.8(MPZ):c.361G>A:p.Asp121Asn	coding	Pathogenic
1	161306800	T	C	T161306800C	MPZ	NM_000530.8(MPZ):c.356A>G:p.Tyr119Cys	coding	Pathogenic/Likely_pathogenic
1	161306815	A	G	A161306815G	MPZ	NM_000530.8(MPZ):c.341T>C:p.Ile114Thr	coding	Pathogenic
1	161306840	G	A	G161306840A	MPZ	NM_000530.8(MPZ):c.316C>T:p.Arg106Cys	coding	Pathogenic
1	161306842	G	A	G161306842A	MPZ	NM_000530.8(MPZ):c.314C>T:p.Pro105Leu	coding	Pathogenic/Likely_pathogenic
1	161306853	C	T	C161306853T	MPZ	NM_000530.8(MPZ):c.303G>A:p.Trp101Ter	coding	Pathogenic/Likely_pathogenic
1	161306854	C	T	C161306854T	MPZ	NM_000530.8(MPZ):c.302G>A:p.Trp101Ter	coding	Pathogenic
1	161306858	G	A	G161306858A	MPZ	NM_000530.8(MPZ):c.298C>T:p.Gln100Ter	coding	Pathogenic
1	161306860	A	G	A161306860G	MPZ	NM_000530.8(MPZ):c.296T>C:p.Ile99Thr	coding	Pathogenic
1	161306863	C	G	C161306863G	MPZ	NM_000530.8(MPZ):c.293G>C:p.Arg98Pro	coding	Pathogenic
1	161306863	C	T	C161306863T	MPZ	NM_000530.8(MPZ):c.293G>A:p.Arg98His	coding	Pathogenic/Likely_pathogenic
1	161306864	G	A	G161306864A	MPZ	NM_000530.8(MPZ):c.292C>T:p.Arg98Cys	coding	Pathogenic
1	161306866	T	A	T161306866A	MPZ	NM_000530.8(MPZ):c.290A>T:p.Glu97Val	coding	Pathogenic
1	161306870	T	C	T161306870C	MPZ	NM_000530.8(MPZ):c.286A>G:p.Lys96Glu	coding	Pathogenic
1	161306886	G	T	G161306886T	MPZ	NM_000530.8(MPZ):c.270C>A:p.Asp90Glu	coding	Pathogenic
1	161306890	A	G	A161306890G	MPZ	NM_000530.8(MPZ):c.266T>C:p.Ile89Thr	coding	Pathogenic
1	161306900	G	A	G161306900A	MPZ	NM_000530.8(MPZ):c.256C>T:p.Gln86Ter	coding	Pathogenic
1	161306911	T	C	T161306911C	MPZ	NM_000530.8(MPZ):c.245A>G:p.Tyr82Cys	coding	Pathogenic
1	161306912	A	G	A161306912G	MPZ	NM_000530.8(MPZ):c.244T>C:p.Tyr82His	coding	Pathogenic
1	161306914	T	C	T161306914C	MPZ	NM_000530.8(MPZ):c.242A>G:p.His81Arg	coding	Pathogenic
1	161307259	G	A	G161307259A	MPZ	NM_000530.8(MPZ):c.233C>T:p.Ser78Leu	coding	Pathogenic
1	161307259	G	C	G161307259C	MPZ	NM_000530.8(MPZ):c.233C>G:p.Ser78Trp	coding	Pathogenic
1	161307268	T	A	T161307268A	MPZ	NM_000530.8(MPZ):c.224A>T:p.Asp75Val	coding	Pathogenic
1	161307282	G	A	G161307282A	MPZ	NM_000530.8(MPZ):c.210C>T:p.Pro70=	coding	Benign/Likely_benign
1	161307288	G	T	G161307288T	MPZ	NM_000530.8(MPZ):c.204C>A:p.Tyr68Ter	coding	Pathogenic
1	161307295	C	T	C161307295T	MPZ	NM_000530.8(MPZ):c.197G>A:p.Trp66Ter	coding	Pathogenic
1	161307304	G	A	G161307304A	MPZ	NM_000530.8(MPZ):c.188C>T:p.Ser63Phe	coding	Pathogenic/Likely_pathogenic
1	161307304	G	C	G161307304C	MPZ	NM_000530.8(MPZ):c.188C>G:p.Ser63Cys	coding	Pathogenic
1	161307308	T	A	T161307308A	MPZ	NM_000530.8(MPZ):c.184A>T:p.Ile62Phe	coding	Pathogenic
1	161307310	T	C	T161307310C	MPZ	NM_000530.8(MPZ):c.182A>G:p.Asp61Gly	coding	Pathogenic/Likely_pathogenic
1	161307311	C	T	C161307311T	MPZ	NM_000530.8(MPZ):c.181G>A:p.Asp61Asn	coding	Pathogenic
1	161307314	C	G	C161307314G	MPZ	NM_000530.8(MPZ):c.178G>C:p.Asp60His	coding	Pathogenic
1	161307317	A	T	A161307317T	MPZ	NM_000530.8(MPZ):c.175T>A:p.Ser59Thr	coding	Pathogenic
1	161307333	C	T	C161307333T	MPZ	NM_000530.8(MPZ):c.159G>A:p.Trp53Ter	coding	Pathogenic
1	161307340	G	A	G161307340A	MPZ	NM_000530.8(MPZ):c.152C>T:p.Ser51Phe	coding	Pathogenic
1	161307343	C	A	C161307343A	MPZ	NM_000530.8(MPZ):c.149G>T:p.Cys50Phe	coding	Pathogenic
1	161307361	G	A	G161307361A	MPZ	NM_000530.8(MPZ):c.131C>T:p.Ser44Phe	coding	Pathogenic
1	161307376	T	G	T161307376G	MPZ	NM_000530.8(MPZ):c.116A>C:p.His39Pro	coding	Pathogenic
1	161307386	T	A	T161307386A	MPZ	NM_000530.8(MPZ):c.106A>T:p.Arg36Trp	coding	Pathogenic
1	161307389	C	A	C161307389A	MPZ	NM_000530.8(MPZ):c.103G>T:p.Asp35Tyr	coding	Pathogenic/Likely_pathogenic
1	161307389	C	T	C161307389T	MPZ	NM_000530.8(MPZ):c.103G>A:p.Asp35Asn	coding	Pathogenic
1	161307402	G	C	G161307402C	MPZ	NM_000530.8(MPZ):c.90C>G:p.Ile30Met	coding	Pathogenic
1	161307425	C	G	C161307425G	MPZ	NM_000530.8(MPZ):c.68-1G>C	coding	Pathogenic
1	161309567	G	T	G161309567T	MPZ	NM_000530.8(MPZ):c.67+272C>A	noncoding	Benign
1	161309728	T	C	T161309728C	MPZ	NM_000530.8(MPZ):c.67+111A>G	noncoding	Benign
1	161309838	C	T	C161309838T	MPZ	NM_000530.8(MPZ):c.67+1G>A	noncoding	Pathogenic
1	161309855	C	T	C161309855T	MPZ	NM_000530.8(MPZ):c.51G>A:p.Leu17=	coding	Benign/Likely_benign
1	161309886	G	C	G161309886C	MPZ	NM_000530.8(MPZ):c.20C>G:p.Ser7Ter	coding	Pathogenic
1	161309905	T	C	T161309905C	MPZ	NM_000530.8(MPZ):c.1A>G:p.Met1Val	coding	Pathogenic
1	161310092	A	G	A161310092G	MPZ	NC_000001.11:g.161310092A>G	noncoding	Benign
1	161314368	G	A	G161314368A	MPZ;SDHC	NM_003001.3(SDHC):c.-38G>A	noncoding	Benign
1	161314374	T	C	T161314374C	SDHC	NM_003001.3(SDHC):c.-32T>C	noncoding	Benign
1	161314406	A	G	A161314406G	SDHC	NM_003001.5(SDHC):c.1A>G:p.Met1Val	coding	Pathogenic
1	161314406	A	T	A161314406T	SDHC	NM_003001.5(SDHC):c.1A>T:p.Met1Leu	coding	Pathogenic
1	161314408	G	A	G161314408A	SDHC	NM_003001.5(SDHC):c.3G>A:p.Met1Ile	coding	Pathogenic
1	161314507	T	C	T161314507C	SDHC	NM_003001.3(SDHC):c.20+82T>C	noncoding	Benign
1	161323636	C	T	C161323636T	SDHC	NM_003001.5(SDHC):c.43C>T:p.Arg15Ter	coding	Pathogenic
1	161323683	G	C	G161323683C	SDHC	NM_003001.3(SDHC):c.77+13G>C	noncoding	Benign
1	161323702	A	T	A161323702T	SDHC	NM_003001.5(SDHC):c.77+32A>T	noncoding	Benign
1	161324098	T	G	T161324098G	SDHC	NM_003001.3(SDHC):c.77+428T>G	noncoding	Benign
1	161328438	G	A	G161328438A	SDHC	NM_003001.5(SDHC):c.120G>A:p.Arg40=	coding	Benign/Likely_benign
1	161328507	G	A	G161328507A	SDHC	NM_003001.3(SDHC):c.179+10G>A	noncoding	Benign/Likely_benign
1	161356776	A	T	A161356776T	SDHC	NM_003001.5(SDHC):c.341A>T:p.His114Leu	coding	Benign
1	161356777	C	T	C161356777T	SDHC	NM_003001.5(SDHC):c.342C>T:p.His114=	coding	Benign/Likely_benign
1	161356789	T	C	T161356789C	SDHC	NM_003001.5(SDHC):c.354T>C:p.Phe118=	coding	Benign/Likely_benign
1	161356815	A	G	A161356815G	SDHC	NM_003001.5(SDHC):c.380A>G:p.His127Arg	coding	Pathogenic/Likely_pathogenic
1	161356821	G	A	G161356821A	SDHC	NM_003001.5(SDHC):c.386G>A:p.Trp129Ter	coding	Pathogenic
1	161356822	G	A	G161356822A	SDHC	NM_003001.5(SDHC):c.387G>A:p.Trp129Ter	coding	Pathogenic/Likely_pathogenic
1	161356832	C	T	C161356832T	SDHC	NM_003001.5(SDHC):c.397C>T:p.Arg133Ter	coding	Pathogenic
1	161356841	G	A	G161356841A	SDHC	NM_003001.3(SDHC):c.405+1G>A	coding	Pathogenic
1	161356841	G	C	G161356841C	SDHC	NM_003001.3(SDHC):c.405+1G>C	coding	Pathogenic/Likely_pathogenic
1	161356841	G	T	G161356841T	SDHC	NM_003001.3(SDHC):c.405+1G>T	coding	Pathogenic/Likely_pathogenic
1	161362321	G	T	G161362321T	SDHC	NM_003001.3(SDHC):c.406-8G>T	noncoding	Benign/Likely_benign
1	161362412	T	C	T161362412C	SDHC	NM_003001.5(SDHC):c.489T>C:p.Ser163=	coding	Benign/Likely_benign
1	161362517	G	C	G161362517C	SDHC	NM_003001.5(SDHC):c.*84G>C	coding	Benign/Likely_benign
1	161362556	C	G	C161362556G	SDHC	NM_003001.5(SDHC):c.*123C>G	noncoding	Benign
1	161362680	C	G	C161362680G	SDHC	NM_003001.5(SDHC):c.*247C>G	noncoding	Benign
1	161362818	G	A	G161362818A	SDHC	NM_003001.5(SDHC):c.*385G>A	noncoding	Benign
1	161362902	G	A	G161362902A	SDHC	NM_003001.5(SDHC):c.*469G>A	noncoding	Benign
1	161363032	A	G	A161363032G	SDHC	NM_003001.5(SDHC):c.*599A>G	noncoding	Benign
1	161363045	C	T	C161363045T	SDHC	NM_003001.5(SDHC):c.*612C>T	noncoding	Benign
1	161363057	A	G	A161363057G	SDHC	NM_003001.5(SDHC):c.*624A>G	noncoding	Benign
1	161363118	C	T	C161363118T	SDHC	NM_003001.5(SDHC):c.*685C>T	noncoding	Benign
1	161363401	A	G	A161363401G	SDHC	NM_003001.3(SDHC):c.*968A>G	noncoding	Benign
1	161363458	G	T	G161363458T	SDHC	NM_003001.3(SDHC):c.*1025G>T	noncoding	Benign
1	161363623	T	A	T161363623A	SDHC	NM_003001.3(SDHC):c.*1190T>A	noncoding	Benign
1	161363624	A	T	A161363624T	SDHC	NM_003001.3(SDHC):c.*1191A>T	noncoding	Benign
1	161363756	G	A	G161363756A	SDHC	NM_003001.3(SDHC):c.*1323G>A	noncoding	Benign
1	161363768	A	G	A161363768G	SDHC	NM_003001.3(SDHC):c.*1335A>G	noncoding	Benign
1	161363796	A	C	A161363796C	SDHC	NM_001035511.2(SDHC):c.*1256A>C	noncoding	Benign
1	161363811	T	C	T161363811C	SDHC	NM_003001.3(SDHC):c.*1378T>C	noncoding	Benign
1	161363812	C	T	C161363812T	SDHC	NM_003001.3(SDHC):c.*1379C>T	noncoding	Benign
1	161364164	G	A	G161364164A	SDHC	NM_003001.3(SDHC):c.*1731G>A	noncoding	Benign
1	161364233	G	C	G161364233C	SDHC	NM_003001.3(SDHC):c.*1800G>C	noncoding	Benign
1	161364485	C	G	C161364485G	SDHC	NM_003001.3(SDHC):c.*2052C>G	noncoding	Benign
1	161364544	C	T	C161364544T	SDHC	NM_003001.3(SDHC):c.*2111C>T	noncoding	Benign
1	161364589	A	C	A161364589C	SDHC	NM_003001.3(SDHC):c.*2156A>C	noncoding	Benign
1	161506414	C	T	C161506414T	FCGR2A	NM_001136219.3(FCGR2A):c.187C>T:p.Gln63Ter	coding	Benign
1	161506415	A	G	A161506415G	FCGR2A	NM_001136219.3(FCGR2A):c.188A>G:p.Gln63Arg	coding	Benign
1	161506437	C	T	C161506437T	FCGR2A	NM_001136219.3(FCGR2A):c.210C>T:p.Ser70=	coding	Benign
1	161509809	G	A	G161509809A	FCGR2A	NM_001136219.3(FCGR2A):c.365-11G>A	noncoding	Benign
1	161510859	A	G	A161510859G	FCGR2A	NM_001136219.3(FCGR2A):c.645A>G:p.Pro215=	coding	Benign
1	161510947	C	T	C161510947T	FCGR2A	NM_001136219.3(FCGR2A):c.733C>T:p.Arg245Trp	coding	Benign
1	161518073	C	T	C161518073T	FCGR2A	NM_001136219.3(FCGR2A):c.879C>T:p.Pro293=	coding	Benign
1	161548424	T	C	T161548424C	FCGR3A	NM_001127593.1(FCGR3A):c.316A>G:p.Ile106Val	coding	Benign
1	161548524	C	T	C161548524T	FCGR3A	NM_001127593.1(FCGR3A):c.216G>A:p.Ser72=	coding	Benign
1	161548543	A	C	A161548543C	FCGR3A	NM_001127593.1(FCGR3A):c.197T>G:p.Leu66Arg	coding	Benign
1	161548546	C	T	C161548546T	FCGR3A	NM_001127593.1(FCGR3A):c.194G>A:p.Ser65Asn	coding	Benign
1	161629781	T	C	T161629781C	FCGR3B	NM_001244753.2(FCGR3B):c.316A>G:p.Ile106Val	coding	Benign
1	161629903	T	C	T161629903C	FCGR3B	NM_000570.4(FCGR3B):c.194A>G:p.Asn65Ser	coding	Benign
1	161675262	C	T	C161675262T	FCGR2B	NM_004001.4(FCGR2B):c.766C>T:p.Pro256Ser	coding	Benign
1	161711297	A	G	A161711297G	FCRLA	NM_032738.4(FCRLA):c.322A>G:p.Thr108Ala	coding	Benign
1	161711963	G	C	G161711963C	FCRLA	NM_032738.4(FCRLA):c.529G>C:p.Val177Leu	coding	Benign
1	161712080	G	A	G161712080A	FCRLA	NM_032738.4(FCRLA):c.646G>A:p.Val216Met	coding	Benign
1	161713075	C	T	C161713075T	FCRLA	NM_032738.4(FCRLA):c.785-10C>T	noncoding	Benign
1	161713326	G	A	G161713326A	FCRLA	NM_032738.4(FCRLA):c.1026G>A:p.Leu342=	coding	Benign
1	161766363	G	T	G161766363T	ATF6	NM_007348.4(ATF6):c.3G>T:p.Met1Ile	coding	Pathogenic
1	161766407	G	T	G161766407T	ATF6	NM_007348.4(ATF6):c.47G>T:p.Ser16Ile	coding	Benign
1	161766447	G	T	G161766447T	ATF6	NM_007348.4(ATF6):c.82+5G>T	noncoding	Pathogenic
1	161781951	A	G	A161781951G	ATF6	NM_007348.4(ATF6):c.199A>G:p.Met67Val	coding	Benign
1	161791413	G	A	G161791413A	ATF6	NM_007348.4(ATF6):c.360G>A:p.Glu120=	coding	Benign/Likely_benign
1	161802072	C	T	C161802072T	ATF6	NM_007348.4(ATF6):c.709C>T:p.Gln237Ter	coding	Pathogenic
1	161802078	A	G	A161802078G	ATF6	NM_007348.4(ATF6):c.715A>G:p.Thr239Ala	coding	Benign
1	161802167	C	T	C161802167T	ATF6	NM_007348.4(ATF6):c.804C>T:p.His268=	coding	Benign
1	161802196	C	T	C161802196T	ATF6	NM_007348.4(ATF6):c.833C>T:p.Ala278Val	coding	Benign
1	161802224	C	T	C161802224T	ATF6	NM_007348.4(ATF6):c.861C>T:p.Ser287=	coding	Benign
1	161819693	C	T	C161819693T	ATF6	NM_007348.4(ATF6):c.970C>T:p.Arg324Cys	coding	Pathogenic
1	161821082	A	T	A161821082T	ATF6	NM_007348.4(ATF6):c.1108A>T:p.Lys370Ter	coding	Pathogenic
1	161821166	G	C	G161821166C	ATF6	NM_007348.4(ATF6):c.1187+5G>C	noncoding	Pathogenic
1	161851818	C	T	C161851818T	ATF6	NM_007348.4(ATF6):c.1416C>T:p.Asn472=	coding	Benign
1	161853221	T	A	T161853221A	ATF6	NM_007348.4(ATF6):c.1434-3T>A	noncoding	Benign
1	161853324	G	C	G161853324C	ATF6	NM_007348.4(ATF6):c.1533+1G>C	coding	Pathogenic
1	161863292	T	A	T161863292A	ATF6	NM_007348.4(ATF6):c.1699T>A:p.Tyr567Asn	coding	Pathogenic
1	161984140	A	G	A161984140G	OLFML2B	NM_001297713.1(OLFML2B):c.1791T>C:p.Ala597=	coding	Benign
1	161998252	A	G	A161998252G	OLFML2B	NM_001297713.1(OLFML2B):c.1050T>C:p.Pro350=	coding	Benign
1	161998282	G	A	G161998282A	OLFML2B	NM_001297713.1(OLFML2B):c.1020C>T:p.Asn340=	coding	Benign
1	162300662	G	A	G162300662A	NOS1AP	NM_014697.3(NOS1AP):c.300G>A:p.Thr100=	coding	Benign
1	162300673	G	A	G162300673A	NOS1AP	NM_014697.3(NOS1AP):c.311G>A:p.Ser104Asn	coding	Benign
1	162333056	C	T	C162333056T	NOS1AP	NM_014697.3(NOS1AP):c.384C>T:p.Ile128=	coding	Benign
1	162343957	C	T	C162343957T	NOS1AP	NM_014697.3(NOS1AP):c.576C>T:p.Ser192=	coding	Benign
1	162355206	C	T	C162355206T	NOS1AP	NM_014697.3(NOS1AP):c.615C>T:p.Ala205=	coding	Benign
1	162357061	C	T	C162357061T	NOS1AP	NM_014697.3(NOS1AP):c.864C>T:p.Ser288=	coding	Benign/Likely_benign
1	162367163	C	T	C162367163T	NOS1AP	NM_014697.3(NOS1AP):c.1217C>T:p.Ala406Val	coding	Benign
1	162367380	G	C	G162367380C	NOS1AP	NM_014697.3(NOS1AP):c.1434G>C:p.Ser478=	coding	Benign
1	162576990	C	T	C162576990T	UAP1	NM_001324116.1(UAP1):c.485+9C>T	noncoding	Benign
1	162587615	G	A	G162587615A	UAP1	NM_001324116.1(UAP1):c.975G>A:p.Ala325=	coding	Benign
1	162590324	A	C	A162590324C	UAP1	NM_001324116.1(UAP1):c.1171A>C:p.Lys391Gln	coding	Benign
1	162590419	G	A	G162590419A	UAP1	NM_001324116.1(UAP1):c.1266G>A:p.Arg422=	coding	Benign
1	162599280	A	G	A162599280G	UAP1	NM_001324116.1(UAP1):c.1486A>G:p.Ser496Gly	coding	Benign
1	162753056	C	G	C162753056G	DDR2	NM_006182.4(DDR2):c.83-39C>G	noncoding	Benign
1	162753091	C	T	C162753091T	DDR2	NM_006182.4(DDR2):c.83-4C>T	noncoding	Benign/Likely_benign
1	162754775	G	A	G162754775A	DDR2	NM_006182.4(DDR2):c.337G>A:p.Glu113Lys	coding	Pathogenic
1	162767290	C	A	C162767290A	DDR2	NM_006182.4(DDR2):c.1224C>A:p.Ile408=	coding	Benign
1	162767326	C	G	C162767326G	DDR2	NM_006182.4(DDR2):c.1260C>G:p.Leu420=	coding	Benign
1	162770390	C	T	C162770390T	DDR2	NM_006182.4(DDR2):c.1382C>T:p.Ser461Leu	coding	Benign/Likely_benign
1	162770537	T	C	T162770537C	DDR2	NM_006182.4(DDR2):c.1504+25T>C	noncoding	Benign
1	162772004	C	T	C162772004T	DDR2	NM_006182.4(DDR2):c.1505-20C>T	noncoding	Benign
1	162772032	G	A	G162772032A	DDR2	NM_006182.4(DDR2):c.1513G>A:p.Gly505Ser	coding	Benign
1	162773569	T	C	T162773569C	DDR2	NM_006182.4(DDR2):c.1829T>C:p.Leu610Pro	coding	Pathogenic
1	162773628	G	T	G162773628T	DDR2	NM_006182.4(DDR2):c.1856+32G>T	noncoding	Benign
1	162776225	C	T	C162776225T	DDR2	NM_006182.4(DDR2):c.2138C>T:p.Thr713Ile	coding	Pathogenic
1	162776264	T	G	T162776264G	DDR2	NM_006182.4(DDR2):c.2177T>G:p.Ile726Arg	coding	Pathogenic
1	162776306	A	G	A162776306G	DDR2	NM_006182.4(DDR2):c.2219A>G:p.Tyr740Cys	coding	Pathogenic
1	162776341	C	T	C162776341T	DDR2	NM_006182.4(DDR2):c.2254C>T:p.Arg752Cys	coding	Pathogenic
1	162776371	G	A	G162776371A	DDR2	NM_006182.4(DDR2):c.2283+1G>A	coding	Pathogenic
1	162778600	T	A	T162778600A	DDR2	NM_006182.4(DDR2):c.2304T>A:p.Ser768Arg	coding	Pathogenic
1	162790832	G	C	G162790832C	HSD17B7	NM_016371.3(HSD17B7):c.32G>C:p.Ser11Thr	coding	Benign
1	162797889	G	A	G162797889A	HSD17B7	NM_016371.3(HSD17B7):c.420G>A:p.Glu140=	coding	Benign
1	162804262	C	T	C162804262T	HSD17B7	NM_016371.3(HSD17B7):c.748-5C>T	noncoding	Benign
1	162812355	A	G	A162812355G	HSD17B7	NM_016371.3(HSD17B7):c.961A>G:p.Lys321Glu	coding	Benign
1	163168296	C	T	C163168296T	RGS5	NM_003617.4(RGS5):c.117G>A:p.Pro39=	coding	Benign
1	164792650	C	G	C164792650G	PBX1	NM_002585.3(PBX1):c.422C>G:p.Ser141Ter	coding	Pathogenic
1	164799697	A	G	A164799697G	PBX1	NM_002585.3(PBX1):c.511-2A>G	noncoding	Pathogenic
1	164799738	C	T	C164799738T	PBX1	NM_002585.3(PBX1):c.550C>T:p.Arg184Ter	coding	Pathogenic
1	164799849	G	T	G164799849T	PBX1	NM_002585.4(PBX1):c.661G>T:p.Glu221Ter	coding	Pathogenic
1	164799868	G	C	G164799868C	PBX1	NM_002585.3(PBX1):c.680G>C:p.Arg227Pro	coding	Pathogenic
1	164799873	C	T	C164799873T	PBX1	NM_002585.4(PBX1):c.685C>T:p.Arg229Ter	coding	Pathogenic
1	164799889	G	C	G164799889C	PBX1	NM_002585.3(PBX1):c.701G>C:p.Arg234Pro	coding	Pathogenic
1	164807544	G	A	G164807544A	PBX1	NM_002585.3(PBX1):c.704G>A:p.Arg235Gln	coding	Pathogenic
1	165205901	G	A	G165205901A	LMX1A	NM_177398.4(LMX1A):c.951C>T:p.Thr317=	coding	Benign
1	165210725	C	G	C165210725G	LMX1A	NM_177398.4(LMX1A):c.721G>C:p.Val241Leu	coding	Pathogenic
1	165249614	C	G	C165249614G	LMX1A	NM_177398.4(LMX1A):c.290G>C:p.Cys97Ser	coding	Pathogenic
1	165355551	G	A	G165355551A	LMX1A	NM_177398.4(LMX1A):c.9C>T:p.Asp3=	coding	Benign
1	165544641	G	C	G165544641C	LRRC52	NM_001005214.4(LRRC52):c.345G>C:p.Ser115=	coding	Benign
1	165563711	C	T	C165563711T	LRRC52	NM_001005214.4(LRRC52):c.829C>T:p.Arg277Cys	coding	Benign
1	165743172	G	A	G165743172A	TMCO1	NM_019026.6(TMCO1):c.463C>T:p.Arg155Ter	coding	Pathogenic
1	165743244	G	A	G165743244A	TMCO1	NM_019026.4(TMCO1):c.544C>T:p.Arg182Ter	coding	Pathogenic
1	165743263	G	T	G165743263T	TMCO1	NM_019026.4(TMCO1):c.525C>A:p.Tyr175Ter	coding	Pathogenic
1	165752099	C	G	C165752099G	TMCO1	NM_019026.4(TMCO1):c.476+3G>C	noncoding	Pathogenic
1	165752166	G	A	G165752166A	TMCO1	NM_019026.4(TMCO1):c.412C>T:p.Arg138Ter	coding	Pathogenic
1	165768817	A	G	A165768817G	TMCO1	NM_019026.5(TMCO1):c.-66T>C	coding	Benign
1	166849449	C	T	C166849449T	POGK	NM_017542.5(POGK):c.870C>T:p.Leu290=	coding	Benign
1	166863911	T	A	T166863911A	TADA1	NM_053053.4(TADA1):c.243A>T:p.Gly81=	coding	Benign
1	166957929	G	A	G166957929A	ILDR2	NM_199351.3(ILDR2):c.219C>T:p.Ser73=	coding	Benign
1	166992758	G	A	G166992758A	MAEL	NM_032858.3(MAEL):c.398G>A:p.Arg133His	coding	Benign
1	167004291	C	A	C167004291A	MAEL	NM_032858.3(MAEL):c.635C>A:p.Pro212His	coding	Benign
1	167063658	C	A	C167063658A	GPA33	NM_005814.3(GPA33):c.495G>T:p.Lys165Asn	coding	Benign
1	167117353	A	T	A167117353T	STYXL2	NM_001080426.3(STYXL2):c.231A>T:p.Ala77=	coding	Benign
1	167119239	C	T	C167119239T	STYXL2	NM_001080426.3(STYXL2):c.438-10C>T	noncoding	Benign
1	167119270	G	C	G167119270C	STYXL2	NM_001080426.3(STYXL2):c.459G>C:p.Gly153=	coding	Benign
1	167127158	C	T	C167127158T	STYXL2	NM_001080426.3(STYXL2):c.2027C>T:p.Thr676Met	coding	Benign
1	167127609	C	T	C167127609T	STYXL2	NM_001080426.3(STYXL2):c.2478C>T:p.Leu826=	coding	Benign
1	167128212	C	T	C167128212T	STYXL2	NM_001080426.3(STYXL2):c.3081C>T:p.Asn1027=	coding	Benign
1	167370211	A	G	A167370211G	POU2F1	NM_002697.4(POU2F1):c.279A>G:p.Val93=	coding	Benign
1	167370224	G	A	G167370224A	POU2F1	NM_002697.4(POU2F1):c.282+10G>A	noncoding	Benign
1	167389600	A	G	A167389600G	POU2F1	NM_002697.4(POU2F1):c.826A>G:p.Thr276Ala	coding	Benign
1	167434083	A	G	A167434083G	CD247	NM_198053.2(CD247):c.337-7T>C	noncoding	Benign
1	167435434	G	A	G167435434A	CD247	NM_198053.2(CD247):c.301C>T:p.Gln101Ter	coding	Pathogenic/Likely_pathogenic
1	167438562	A	T	A167438562T	CD247	NM_198053.2(CD247):c.300+8T>A	noncoding	Benign
1	167438621	G	A	G167438621A	CD247	NM_198053.2(CD247):c.249C>T:p.Tyr83=	coding	Benign
1	167438624	C	T	C167438624T	CD247	NM_198053.2(CD247):c.246G>A:p.Glu82=	coding	Benign
1	167439354	T	A	T167439354A	CD247	NM_000734.4(CD247):c.209A>T:p.Gln70Leu	coding	Pathogenic
1	167439355	G	A	G167439355A	CD247	NM_000734.4(CD247):c.208C>T:p.Gln70Ter	coding	Pathogenic
1	167439386	T	C	T167439386C	CD247	NM_198053.2(CD247):c.177A>G:p.Ala59=	coding	Benign
1	167440726	G	A	G167440726A	CD247	NM_198053.2(CD247):c.100C>T:p.Leu34=	coding	Benign
1	167518464	A	G	A167518464G	CD247	NM_000734.4(CD247):c.2T>C:p.Met1Thr	coding	Pathogenic
1	167765686	G	A	G167765686A	MPZL1	NM_003953.6(MPZL1):c.195G>A:p.Thr65=	coding	Benign
1	167765707	C	T	C167765707T	MPZL1	NM_003953.6(MPZL1):c.216C>T:p.Val72=	coding	Benign
1	167809759	A	G	A167809759G	ADCY10	NM_018417.6(ADCY10):c.4752T>C:p.Ile1584=	coding	Benign
1	167818069	C	T	C167818069T	ADCY10	NM_018417.6(ADCY10):c.4482+3G>A	noncoding	Benign
1	167818165	T	A	T167818165A	ADCY10	NM_018417.6(ADCY10):c.4389A>T:p.Ile1463=	coding	Benign
1	167818177	G	A	G167818177A	ADCY10	NM_018417.6(ADCY10):c.4377C>T:p.Tyr1459=	coding	Benign
1	167818241	T	C	T167818241C	ADCY10	NM_018417.6(ADCY10):c.4313A>G:p.Asn1438Ser	coding	Benign
1	167823101	G	A	G167823101A	ADCY10	NM_018417.6(ADCY10):c.4075C>T:p.Leu1359=	coding	Benign
1	167824528	G	A	G167824528A	ADCY10	NM_018417.6(ADCY10):c.4000C>T:p.Arg1334Ter	coding	Pathogenic
1	167824529	G	A	G167824529A	ADCY10	NM_018417.6(ADCY10):c.3999C>T:p.Asn1333=	coding	Benign
1	167824841	G	A	G167824841A	ADCY10	NM_018417.6(ADCY10):c.3765C>T:p.Tyr1255=	coding	Benign
1	167829259	T	A	T167829259A	ADCY10	NM_018417.6(ADCY10):c.3750+8A>T	noncoding	Benign
1	167829297	A	G	A167829297G	ADCY10	NM_018417.6(ADCY10):c.3720T>C:p.Asn1240=	coding	Benign
1	167829321	G	A	G167829321A	ADCY10	NM_018417.6(ADCY10):c.3696C>T:p.His1232=	coding	Benign
1	167833038	T	C	T167833038C	ADCY10	NM_018417.6(ADCY10):c.3542A>G:p.Asn1181Ser	coding	Benign
1	167846136	C	T	C167846136T	ADCY10	NM_018417.6(ADCY10):c.2565G>A:p.Lys855=	coding	Benign
1	167856235	G	A	G167856235A	ADCY10	NM_018417.6(ADCY10):c.2101C>T:p.Gln701Ter	coding	Pathogenic
1	167856239	T	C	T167856239C	ADCY10	NM_018417.6(ADCY10):c.2097A>G:p.Ala699=	coding	Benign
1	167860989	A	G	A167860989G	ADCY10	NM_018417.6(ADCY10):c.1691T>C:p.Val564Ala	coding	Benign
1	167878458	C	T	C167878458T	ADCY10	NM_018417.6(ADCY10):c.1394G>A:p.Arg465His	coding	Benign
1	167878589	G	T	G167878589T	ADCY10	NM_018417.6(ADCY10):c.1263C>A:p.Tyr421Ter	coding	Pathogenic
1	168044900	C	T	C168044900T	DCAF6	NM_001198956.1(DCAF6):c.1931C>T:p.Thr644Ile	coding	Benign
1	168085708	C	T	C168085708T	GPR161	NM_001267609.1(GPR161):c.1473G>A:p.Glu491=	coding	Benign
1	168085725	A	G	A168085725G	GPR161	NM_001267609.1(GPR161):c.1456T>C:p.Leu486=	coding	Benign
1	168096779	G	A	G168096779A	GPR161	NM_001267609.1(GPR161):c.888C>T:p.Leu296=	coding	Benign
1	168097013	G	A	G168097013A	GPR161	NM_001267609.1(GPR161):c.654C>T:p.Leu218=	coding	Benign
1	168097121	G	A	G168097121A	GPR161	NM_001267609.1(GPR161):c.546C>T:p.Pro182=	coding	Benign
1	168097223	A	G	A168097223G	GPR161	NM_001267609.1(GPR161):c.444T>C:p.Ala148=	coding	Benign
1	168104608	C	G	C168104608G	GPR161	NM_001267609.1(GPR161):c.303G>C:p.Leu101=	coding	Benign
1	168104776	G	A	G168104776A	GPR161	NM_001267609.1(GPR161):c.135C>T:p.Gly45=	coding	Benign
1	168104785	G	A	G168104785A	GPR161	NM_001267609.1(GPR161):c.126C>T:p.Gly42=	coding	Benign
1	168104892	C	T	C168104892T	GPR161	NM_001267609.1(GPR161):c.19G>A:p.Val7Ile	coding	Benign
1	168281070	G	A	G168281070A	TBX19	NM_005149.3(TBX19):c.-21G>A	noncoding	Benign
1	168281168	G	A	G168281168A	TBX19	NM_005149.3(TBX19):c.78G>A:p.Glu26=	coding	Benign
1	168281195	C	T	C168281195T	TBX19	NM_005149.3(TBX19):c.105C>T:p.Asp35=	coding	Benign
1	168291213	T	G	T168291213G	TBX19	NM_005149.3(TBX19):c.257T>G:p.Met86Arg	coding	Pathogenic
1	168291339	C	T	C168291339T	TBX19	NM_005149.3(TBX19):c.383C>T:p.Ser128Phe	coding	Pathogenic
1	168291418	C	T	C168291418T	TBX19	NM_005149.3(TBX19):c.462C>T:p.Gly154=	coding	Benign
1	168293243	C	T	C168293243T	TBX19	NM_005149.3(TBX19):c.568C>T:p.Gln190Ter	coding	Pathogenic
1	168293289	G	T	G168293289T	TBX19	NM_005149.3(TBX19):c.603+11G>T	noncoding	Benign
1	168297747	C	G	C168297747G	TBX19	NM_005149.3(TBX19):c.627C>G:p.Tyr209Ter	coding	Pathogenic
1	168305041	T	C	T168305041C	TBX19	NM_005149.3(TBX19):c.761T>C:p.Val254Ala	coding	Benign
1	168305136	C	T	C168305136T	TBX19	NM_005149.3(TBX19):c.856C>T:p.Arg286Ter	coding	Pathogenic
1	168308728	G	A	G168308728A	TBX19	NM_005149.3(TBX19):c.917-14G>A	noncoding	Benign
1	168312777	C	T	C168312777T	TBX19	NM_005149.3(TBX19):c.1122C>T:p.His374=	coding	Benign
1	168313023	T	A	T168313023A	TBX19	NM_005149.3(TBX19):c.*21T>A	noncoding	Benign
1	168313028	C	G	C168313028G	TBX19	NM_005149.3(TBX19):c.*26C>G	noncoding	Benign
1	168313188	G	A	G168313188A	TBX19	NM_005149.3(TBX19):c.*186G>A	noncoding	Benign
1	168313253	T	C	T168313253C	TBX19	NM_005149.3(TBX19):c.*251T>C	noncoding	Benign
1	168313471	G	A	G168313471A	TBX19	NM_005149.3(TBX19):c.*469G>A	noncoding	Benign
1	168313481	G	C	G168313481C	TBX19	NM_005149.3(TBX19):c.*479G>C	noncoding	Benign
1	168313546	G	A	G168313546A	TBX19	NM_005149.3(TBX19):c.*544G>A	noncoding	Benign
1	168314157	C	G	C168314157G	TBX19	NM_005149.3(TBX19):c.*1155C>G	noncoding	Benign
1	168314236	C	T	C168314236T	TBX19	NM_005149.3(TBX19):c.*1234C>T	noncoding	Benign
1	168581191	A	T	A168581191T	XCL1	NM_002995.3(XCL1):c.316A>T:p.Thr106Ser	coding	Benign
1	168696554	C	T	C168696554T	DPT	NM_001937.5(DPT):c.601G>A:p.Val201Ile	coding	Benign
1	168696573	G	A	G168696573A	DPT	NM_001937.5(DPT):c.582C>T:p.Tyr194=	coding	Benign
1	168696611	G	A	G168696611A	DPT	NM_001937.5(DPT):c.544C>T:p.Arg182Cys	coding	Pathogenic
1	168714291	C	T	C168714291T	DPT	NM_001937.5(DPT):c.361G>A:p.Glu121Lys	coding	Benign
1	168728911	C	T	C168728911T	DPT	NM_001937.5(DPT):c.264G>A:p.Thr88=	coding	Benign
1	168729001	G	T	G168729001T	DPT	NM_001937.5(DPT):c.174C>A:p.Ala58=	coding	Benign
1	168729167	A	G	A168729167G	DPT	NM_001937.5(DPT):c.8T>C:p.Leu3Pro	coding	Benign
1	169106829	C	A	C169106829A	ATP1B1	NM_001677.4(ATP1B1):c.-1C>A	noncoding	Benign
1	169111494	G	A	G169111494A	ATP1B1	NM_001677.4(ATP1B1):c.222G>A:p.Pro74=	coding	Benign
1	169124978	G	A	G169124978A	ATP1B1	NM_001677.4(ATP1B1):c.321G>A:p.Arg107=	coding	Benign
1	169130042	A	C	A169130042C	ATP1B1	NM_001677.4(ATP1B1):c.600A>C:p.Pro200=	coding	Benign
1	169464035	C	T	C169464035T	SLC19A2	NM_006996.3(SLC19A2):c.*1814G>A	noncoding	Benign/Likely_benign
1	169464428	T	C	T169464428C	SLC19A2	NM_006996.3(SLC19A2):c.*1421A>G	noncoding	Benign
1	169464882	T	C	T169464882C	SLC19A2	NM_006996.3(SLC19A2):c.*967A>G	noncoding	Benign
1	169465789	C	T	C169465789T	SLC19A2	NM_006996.3(SLC19A2):c.*60G>A	noncoding	Benign
1	169466161	G	A	G169466161A	SLC19A2	NM_006996.3(SLC19A2):c.1366-184C>T	noncoding	Benign
1	169468154	A	G	A169468154G	SLC19A2	NM_006996.3(SLC19A2):c.1322T>C:p.Ile441Thr	coding	Benign/Likely_benign
1	169468652	C	T	C169468652T	SLC19A2	NM_006996.3(SLC19A2):c.1215G>A:p.Thr405=	coding	Benign/Likely_benign
1	169468774	T	A	T169468774A	SLC19A2	NM_006996.3(SLC19A2):c.1093A>T:p.Thr365Ser	coding	Benign
1	169468785	C	T	C169468785T	SLC19A2	NM_006996.3(SLC19A2):c.1082G>A:p.Trp361Ter	coding	Pathogenic
1	169468787	A	G	A169468787G	SLC19A2	NM_006996.3(SLC19A2):c.1080T>C:p.Thr360=	coding	Benign/Likely_benign
1	169468793	C	T	C169468793T	SLC19A2	NM_006996.3(SLC19A2):c.1074G>A:p.Trp358Ter	coding	Pathogenic
1	169468942	A	G	A169468942G	SLC19A2	NM_006996.3(SLC19A2):c.1031-106T>C	noncoding	Benign
1	169476945	A	G	A169476945G	SLC19A2	NM_006996.3(SLC19A2):c.807+210T>C	noncoding	Benign
1	169477212	C	T	C169477212T	SLC19A2	NM_006996.3(SLC19A2):c.750G>A:p.Trp250Ter	coding	Pathogenic
1	169477447	C	T	C169477447T	SLC19A2	NM_006996.3(SLC19A2):c.515G>A:p.Gly172Asp	coding	Pathogenic
1	169477478	G	A	G169477478A	SLC19A2	NM_006996.3(SLC19A2):c.484C>T:p.Arg162Ter	coding	Pathogenic
1	169477534	G	A	G169477534A	SLC19A2	NM_006996.3(SLC19A2):c.428C>T:p.Ser143Phe	coding	Pathogenic
1	169478041	A	C	A169478041C	SLC19A2	NM_006996.3(SLC19A2):c.205-284T>G	noncoding	Benign
1	169485615	G	A	G169485615A	SLC19A2	NM_006996.3(SLC19A2):c.152C>T:p.Pro51Leu	coding	Pathogenic
1	169485770	G	A	G169485770A	SLC19A2	NM_006996.3(SLC19A2):c.-4C>T	noncoding	Benign
1	169485789	C	G	C169485789G	SLC19A2	NM_006996.3(SLC19A2):c.-23G>C	noncoding	Benign
1	169486197	G	C	G169486197C	SLC19A2	NC_000001.11:g.169486197G>C	noncoding	Benign
1	169511985	C	G	C169511985G	F5	NM_000130.4(F5):c.*2328G>C	noncoding	Benign/Likely_benign
1	169512493	T	G	T169512493G	F5	NM_000130.4(F5):c.*1820A>C	noncoding	Benign/Likely_benign
1	169512712	G	A	G169512712A	F5	NM_000130.4(F5):c.*1601C>T	noncoding	Benign/Likely_benign
1	169512877	A	T	A169512877T	F5	NM_000130.4(F5):c.*1436T>A	noncoding	Benign/Likely_benign
1	169513067	G	A	G169513067A	F5	NM_000130.4(F5):c.*1246C>T	noncoding	Benign/Likely_benign
1	169513195	C	T	C169513195T	F5	NM_000130.4(F5):c.*1118G>A	noncoding	Benign/Likely_benign
1	169513198	G	A	G169513198A	F5	NM_000130.4(F5):c.*1115C>T	noncoding	Benign/Likely_benign
1	169513440	G	A	G169513440A	F5	NM_000130.4(F5):c.*873C>T	noncoding	Benign/Likely_benign
1	169513937	T	A	T169513937A	F5	NM_000130.5(F5):c.*376A>T	noncoding	Benign/Likely_benign
1	169514323	T	C	T169514323C	F5	NM_000130.4(F5):c.6665A>G:p.Asp2222Gly	coding	Benign/Likely_benign
1	169515529	A	G	A169515529G	F5	NM_000130.5(F5):c.6443T>C:p.Met2148Thr	coding	Benign/Likely_benign
1	169518583	G	T	G169518583T	F5	NM_000130.4(F5):c.6194-20C>A	noncoding	Benign
1	169524902	C	T	C169524902T	F5	NM_000130.5(F5):c.5723G>A:p.Arg1908Lys	coding	Benign
1	169525949	C	T	C169525949T	F5	NM_000130.4(F5):c.5668G>A:p.Glu1890Lys	coding	Pathogenic
1	169528054	C	T	C169528054T	F5	NM_000130.4(F5):c.5460G>A:p.Met1820Ile	coding	Benign/Likely_benign
1	169529596	T	C	T169529596C	F5	NM_000130.4(F5):c.5419+12A>G	noncoding	Benign/Likely_benign
1	169529597	G	A	G169529597A	F5	NM_000130.4(F5):c.5419+11C>T	noncoding	Benign/Likely_benign
1	169529635	C	T	C169529635T	F5	NM_000130.4(F5):c.5392G>A:p.Glu1798Lys	coding	Pathogenic
1	169529662	G	A	G169529662A	F5	NM_000130.4(F5):c.5365C>T:p.Arg1789Ter	coding	Pathogenic
1	169530805	T	C	T169530805C	F5	NM_000130.4(F5):c.5189A>G:p.Tyr1730Cys	coding	Pathogenic
1	169530972	T	C	T169530972C	F5	NM_000130.4(F5):c.5022A>G:p.Gly1674=	coding	Benign/Likely_benign
1	169536554	G	A	G169536554A	F5	NM_000130.5(F5):c.4923C>T:p.Leu1641=	coding	Benign
1	169540527	A	G	A169540527G	F5	NM_000130.5(F5):c.4563T>C:p.Asp1521=	coding	Benign
1	169540880	G	A	G169540880A	F5	NM_000130.4(F5):c.4210C>T:p.Pro1404Ser	coding	Benign/Likely_benign
1	169540901	G	A	G169540901A	F5	NM_000130.4(F5):c.4189C>T:p.Leu1397Phe	coding	Benign/Likely_benign
1	169540995	G	A	G169540995A	F5	NM_000130.4(F5):c.4095C>T:p.Thr1365=	coding	Benign/Likely_benign
1	169541110	T	C	T169541110C	F5	NM_000130.4(F5):c.3980A>G:p.His1327Arg	coding	Benign/Likely_benign
1	169541142	G	A	G169541142A	F5	NM_000130.4(F5):c.3948C>T:p.Leu1316=	coding	Benign/Likely_benign
1	169541237	G	T	G169541237T	F5	NM_000130.4(F5):c.3853C>A:p.Leu1285Ile	coding	Benign/Likely_benign
1	169541286	A	G	A169541286G	F5	NM_000130.4(F5):c.3804T>C:p.Ser1268=	coding	Benign/Likely_benign
1	169541586	T	G	T169541586G	F5	NM_000130.4(F5):c.3504A>C:p.Thr1168=	coding	Benign/Likely_benign
1	169541609	G	A	G169541609A	F5	NM_000130.4(F5):c.3481C>T:p.Arg1161Ter	coding	Pathogenic
1	169541652	G	C	G169541652C	F5	NM_000130.4(F5):c.3438C>G:p.His1146Gln	coding	Benign/Likely_benign
1	169542165	G	A	G169542165A	F5	NM_000130.4(F5):c.2925C>T:p.Pro975=	coding	Benign/Likely_benign
1	169542317	T	C	T169542317C	F5	NM_000130.4(F5):c.2773A>G:p.Lys925Glu	coding	Benign/Likely_benign
1	169542347	T	A	T169542347A	F5	NM_000130.4(F5):c.2743A>T:p.Thr915Ser	coding	Benign/Likely_benign
1	169542496	T	C	T169542496C	F5	NM_000130.4(F5):c.2594A>G:p.His865Arg	coding	Benign/Likely_benign
1	169542640	T	G	T169542640G	F5	NM_000130.4(F5):c.2450A>C:p.Asn817Thr	coding	Benign/Likely_benign
1	169542665	G	A	G169542665A	F5	NM_000130.4(F5):c.2425C>T:p.Pro809Ser	coding	Benign/Likely_benign
1	169542689	G	A	G169542689A	F5	NM_000130.4(F5):c.2401C>T:p.Gln801Ter	coding	Pathogenic
1	169542789	T	C	T169542789C	F5	NM_000130.4(F5):c.2301A>G:p.Ser767=	coding	Benign/Likely_benign
1	169542801	T	C	T169542801C	F5	NM_000130.4(F5):c.2289A>G:p.Glu763=	coding	Benign/Likely_benign
1	169542855	A	G	A169542855G	F5	NM_000130.4(F5):c.2235T>C:p.Asn745=	coding	Benign/Likely_benign
1	169542882	G	A	G169542882A	F5	NM_000130.4(F5):c.2208C>T:p.Ile736=	coding	Benign/Likely_benign
1	169542948	T	C	T169542948C	F5	NM_000130.5(F5):c.2142A>G:p.Glu714=	coding	Benign
1	169542961	T	C	T169542961C	F5	NM_000130.5(F5):c.2129A>G:p.His710Arg	coding	Benign
1	169542985	G	A	G169542985A	F5	NM_000130.5(F5):c.2105C>T:p.Thr702Ile	coding	Benign
1	169544345	G	T	G169544345T	F5	NM_000130.4(F5):c.1926C>A:p.Thr642=	coding	Benign/Likely_benign
1	169546488	C	T	C169546488T	F5	NM_000130.4(F5):c.1716G>A:p.Glu572=	coding	Benign/Likely_benign
1	169546601	C	A	C169546601A	F5	NM_000130.5(F5):c.1612-9G>T	noncoding	Benign
1	169549873	T	C	T169549873C	F5	NM_000130.5(F5):c.1539A>G:p.Arg513=	coding	Benign
1	169549874	C	T	C169549874T	F5	NM_000130.4(F5):c.1538G>A:p.Arg513Lys	coding	Benign/Likely_benign
1	169550656	G	A	G169550656A	F5	NM_000130.4(F5):c.1380C>T:p.Asn460=	coding	Benign/Likely_benign
1	169552615	A	G	A169552615G	F5	NM_000130.4(F5):c.1238T>C:p.Met413Thr	coding	Benign/Likely_benign
1	169552693	A	G	A169552693G	F5	NM_000130.4(F5):c.1160T>C:p.Ile387Thr	coding	Pathogenic
1	169555299	C	G	C169555299G	F5	NM_000130.4(F5):c.1001G>C:p.Arg334Thr	coding	Pathogenic
1	169555300	T	C	T169555300C	F5	NM_000130.4(F5):c.1000A>G:p.Arg334Gly	coding	Pathogenic
1	169556782	G	A	G169556782A	F5	NM_000130.4(F5):c.816C>T:p.Asn272=	coding	Benign/Likely_benign
1	169559146	G	A	G169559146A	F5	NM_000130.4(F5):c.730+7C>T	noncoding	Benign/Likely_benign
1	169560576	C	G	C169560576G	F5	NM_000130.4(F5):c.564G>C:p.Gly188=	coding	Benign/Likely_benign
1	169560588	C	A	C169560588A	F5	NM_000130.4(F5):c.552G>T:p.Ser184=	coding	Benign/Likely_benign
1	169560701	C	A	C169560701A	F5	NM_000130.4(F5):c.439G>T:p.Glu147Ter	coding	Pathogenic
1	169560735	C	T	C169560735T	F5	NM_000130.4(F5):c.405G>A:p.Ala135=	coding	Benign/Likely_benign
1	169572275	C	G	C169572275G	F5	NM_000130.4(F5):c.319G>C:p.Asp107His	coding	Benign/Likely_benign
1	169582444	T	C	T169582444C	F5	NM_000130.4(F5):c.237A>G:p.Gln79=	coding	Benign/Likely_benign
1	169586216	A	G	A169586216G	F5	NM_000130.4(F5):c.158+13T>C	noncoding	Benign/Likely_benign
1	169586344	C	T	C169586344T	F5	NM_000130.4(F5):c.43G>A:p.Gly15Ser	coding	Benign/Likely_benign
1	169593711	A	G	A169593711G	SELP	NM_003005.4(SELP):c.2301T>C:p.Thr767=	coding	Benign
1	169594713	T	G	T169594713G	SELP	NM_003005.4(SELP):c.2266A>C:p.Thr756Pro	coding	Benign
1	169596008	T	C	T169596008C	SELP	NM_003005.4(SELP):c.2018A>G:p.Asn673Ser	coding	Benign
1	169596108	C	G	C169596108G	SELP	NM_003005.4(SELP):c.1918G>C:p.Val640Leu	coding	Benign
1	169597027	A	C	A169597027C	SELP	NM_003005.4(SELP):c.1855T>G:p.Ser619Ala	coding	Benign
1	169607137	A	G	A169607137G	SELP	NM_003005.4(SELP):c.1334-3T>C	noncoding	Benign
1	169612357	G	A	G169612357A	SELP	NM_003005.4(SELP):c.821C>T:p.Thr274Ile	coding	Benign
1	169617125	G	A	G169617125A	SELP	NM_003005.4(SELP):c.384C>T:p.Asn128=	coding	Benign
1	169704733	C	G	C169704733G	SELL	NM_000655.5(SELL):c.601G>C:p.Glu201Gln	coding	Benign
1	169708538	A	G	A169708538G	SELL	NM_000655.5(SELL):c.351T>C:p.Gly117=	coding	Benign
1	169708782	G	C	G169708782C	SELL	NM_000655.5(SELL):c.107C>G:p.Thr36Ser	coding	Benign
1	169710455	C	A	C169710455A	SELL	NM_000655.5(SELL):c.66G>T:p.Gly22=	coding	Benign
1	169728076	C	G	C169728076G	SELE	NM_000450.2(SELE):c.1261G>C:p.Glu421Gln	coding	Benign
1	169728077	G	A	G169728077A	SELE	NM_000450.2(SELE):c.1260C>T:p.Asn420=	coding	Benign
1	169728127	A	G	A169728127G	SELE	NM_000450.2(SELE):c.1210T>C:p.Leu404=	coding	Benign
1	169729506	C	T	C169729506T	SELE	NM_000450.2(SELE):c.883G>A:p.Glu295Lys	coding	Benign
1	169729516	A	G	A169729516G	SELE	NM_000450.2(SELE):c.873T>C:p.Asn291=	coding	Benign
1	169793039	G	A	G169793039A	METTL18	NM_033418.4(METTL18):c.657C>T:p.Asn219=	coding	Benign
1	169827056	T	C	T169827056C	C1orf112	NM_001320047.2(C1orf112):c.854T>C:p.Phe285Ser	coding	Benign
1	169851914	A	C	A169851914C	C1orf112	NM_001320047.2(C1orf112):c.2342A>C:p.Glu781Ala	coding	Benign
1	170539207	T	C	T170539207C	GORAB	NM_152281.2(GORAB):c.137-3T>C	noncoding	Benign
1	170539515	G	T	G170539515T	GORAB	NM_001320252.2(GORAB):c.-99G>T	coding	Pathogenic
1	170542489	A	T	A170542489T	GORAB	NM_152281.2(GORAB):c.495-2A>T	noncoding	Pathogenic
1	170544801	C	T	C170544801T	GORAB	NM_152281.3(GORAB):c.618C>T:p.Leu206=	coding	Benign
1	170544840	C	T	C170544840T	GORAB	NM_152281.2(GORAB):c.732C>T:p.Tyr244=	coding	Benign
1	170544841	G	C	G170544841C	GORAB	NM_152281.2(GORAB):c.733G>C:p.Ala245Pro	coding	Pathogenic
1	170544850	G	C	G170544850C	GORAB	NM_152281.2(GORAB):c.737+5G>C	coding	Pathogenic
1	170552136	C	T	C170552136T	GORAB	NM_152281.2(GORAB):c.859C>T:p.Arg287Ter	coding	Pathogenic
1	170552234	C	T	C170552234T	GORAB	NM_152281.3(GORAB):c.882C>T:p.His294=	coding	Benign
1	170552235	G	A	G170552235A	GORAB	NM_152281.2(GORAB):c.958G>A:p.Glu320Lys	coding	Benign
1	170552509	T	G	T170552509G	GORAB	NM_152281.2(GORAB):c.*47T>G	noncoding	Benign
1	170552996	T	C	T170552996C	GORAB	NM_152281.2(GORAB):c.*534T>C	noncoding	Benign
1	170553345	G	A	G170553345A	GORAB	NM_152281.2(GORAB):c.*883G>A	noncoding	Benign
1	170553346	C	A	C170553346A	GORAB	NM_152281.2(GORAB):c.*884C>A	noncoding	Benign
1	170553526	T	A	T170553526A	GORAB	NM_152281.2(GORAB):c.*1064T>A	noncoding	Benign
1	170553527	A	T	A170553527T	GORAB	NM_152281.2(GORAB):c.*1065A>T	noncoding	Benign
1	170553679	T	C	T170553679C	GORAB	NM_152281.2(GORAB):c.*1217T>C	noncoding	Benign
1	170553760	T	C	T170553760C	GORAB	NM_152281.2(GORAB):c.*1298T>C	noncoding	Benign
1	170664403	G	A	G170664403A	PRRX1	NM_022716.4(PRRX1):c.185G>A:p.Arg62Gln	coding	Benign
1	170719794	A	G	A170719794G	PRRX1	NM_022716.4(PRRX1):c.310A>G:p.Ser104Gly	coding	Benign
1	170719822	T	C	T170719822C	PRRX1	NM_022716.4(PRRX1):c.338T>C:p.Phe113Ser	coding	Pathogenic
1	170719908	C	G	C170719908G	PRRX1	NM_022716.4(PRRX1):c.417+7C>G	noncoding	Benign
1	170736139	G	C	G170736139C	PRRX1	NM_022716.4(PRRX1):c.691G>C:p.Ala231Pro	coding	Pathogenic
1	171092752	G	A	G171092752A	FMO3	NM_001002294.3(FMO3):c.94G>A:p.Glu32Lys	coding	Pathogenic
1	171103806	G	A	G171103806A	FMO3	NM_001002294.3(FMO3):c.154G>A:p.Ala52Thr	coding	Pathogenic
1	171103834	A	G	A171103834G	FMO3	NM_001002294.3(FMO3):c.182A>G:p.Asn61Ser	coding	Pathogenic
1	171103850	G	T	G171103850T	FMO3	NM_001002294.3(FMO3):c.198G>T:p.Met66Ile	coding	Pathogenic
1	171107747	G	C	G171107747C	FMO3	NM_001002294.3(FMO3):c.394G>C:p.Asp132His	coding	Benign
1	171107794	C	T	C171107794T	FMO3	NM_001002294.3(FMO3):c.441C>T:p.Ser147=	coding	Benign
1	171107795	G	T	G171107795T	FMO3	NM_001002294.3(FMO3):c.442G>T:p.Gly148Ter	coding	Pathogenic
1	171107811	C	T	C171107811T	FMO3	NM_001002294.3(FMO3):c.458C>T:p.Pro153Leu	coding	Pathogenic
1	171107825	G	A	G171107825A	FMO3	NM_006894.5(FMO3):c.472G>A:p.Glu158Lys	coding	Benign
1	171108057	G	A	G171108057A	FMO3	NM_001002294.3(FMO3):c.485-22G>A	noncoding	Benign
1	171108133	G	T	G171108133T	FMO3	NM_001002294.3(FMO3):c.539G>T:p.Gly180Val	coding	Benign
1	171108143	T	C	T171108143C	FMO3	NM_001002294.3(FMO3):c.549T>C:p.Asn183=	coding	Benign
1	171108231	C	G	C171108231G	FMO3	NM_001002294.3(FMO3):c.627+10C>G	noncoding	Benign
1	171110939	G	A	G171110939A	FMO3	NM_001002294.3(FMO3):c.769G>A:p.Val257Met	coding	Benign
1	171114009	T	C	T171114009C	FMO3	NM_001002294.3(FMO3):c.830T>C:p.Val277Ala	coding	Benign/Likely_benign
1	171114034	C	T	C171114034T	FMO3	NM_001002294.3(FMO3):c.855C>T:p.Asn285=	coding	Benign
1	171114038	G	T	G171114038T	FMO3	NM_001002294.3(FMO3):c.859G>T:p.Glu287Ter	coding	Pathogenic
1	171114092	G	T	G171114092T	FMO3	NM_001002294.3(FMO3):c.913G>T:p.Glu305Ter	coding	Pathogenic
1	171114102	A	G	A171114102G	FMO3	NM_001002294.3(FMO3):c.923A>G:p.Glu308Gly	coding	Benign/Likely_benign
1	171114119	G	T	G171114119T	FMO3	NM_001002294.3(FMO3):c.940G>T:p.Glu314Ter	coding	Pathogenic
1	171114339	G	T	G171114339T	FMO3	NM_001002294.3(FMO3):c.1160G>T:p.Arg387Leu	coding	Pathogenic
1	171114397	T	C	T171114397C	FMO3	NM_001002294.3(FMO3):c.1183+35T>C	noncoding	Benign
1	171116245	T	C	T171116245C	FMO3	NM_001002294.3(FMO3):c.1221T>C:p.Asn407=	coding	Benign
1	171208951	C	T	C171208951T	FMO2	NM_001460.5(FMO2):c.1414C>T:p.Gln472Ter	coding	Benign
1	171278719	T	C	T171278719C	FMO1	NM_001282693.2(FMO1):c.485-10T>C	noncoding	Benign
1	171282129	T	C	T171282129C	FMO1	NM_001282693.2(FMO1):c.979T>C:p.Phe327Leu	coding	Benign
1	171282268	A	G	A171282268G	FMO1	NM_001282693.2(FMO1):c.1118A>G:p.Lys373Arg	coding	Benign
1	171334426	C	T	C171334426T	FMO4	NM_002022.3(FMO4):c.843C>T:p.Phe281=	coding	Benign
1	171337381	A	G	A171337381G	FMO4	NM_002022.3(FMO4):c.1206A>G:p.Gln402=	coding	Benign
1	171341762	T	C	T171341762C	FMO4	NM_002022.3(FMO4):c.1600T>C:p.Ser534Pro	coding	Benign
1	171635852	C	G	C171635852G	MYOC	NM_000261.2(MYOC):c.*73G>C	noncoding	Benign
1	171636000	G	T	G171636000T	MYOC	NM_000261.2(MYOC):c.1440C>A:p.Asn480Lys	coding	Pathogenic
1	171636010	A	C	A171636010C	MYOC	NM_000261.2(MYOC):c.1430T>G:p.Ile477Ser	coding	Pathogenic
1	171636010	A	T	A171636010T	MYOC	NM_000261.2(MYOC):c.1430T>A:p.Ile477Asn	coding	Pathogenic
1	171636131	A	G	A171636131G	MYOC	NM_000261.2(MYOC):c.1309T>C:p.Tyr437His	coding	Pathogenic
1	171636143	A	G	A171636143G	MYOC	NM_000261.2(MYOC):c.1297T>C:p.Cys433Arg	coding	Pathogenic
1	171636173	T	C	T171636173C	MYOC	NM_000261.2(MYOC):c.1267A>G:p.Lys423Glu	coding	Pathogenic
1	171636244	C	A	C171636244A	MYOC	NM_000261.2(MYOC):c.1196G>T:p.Gly399Val	coding	Pathogenic
1	171636252	C	T	C171636252T	MYOC	NM_000261.2(MYOC):c.1188G>A:p.Glu396=	coding	Benign/Likely_benign
1	171636302	C	G	C171636302G	MYOC	NM_000261.2(MYOC):c.1138G>C:p.Asp380His	coding	Pathogenic
1	171636329	A	G	A171636329G	MYOC	NM_000261.2(MYOC):c.1111T>C:p.Tyr371His	coding	Pathogenic
1	171636331	G	A	G171636331A	MYOC	NM_000261.2(MYOC):c.1109C>T:p.Pro370Leu	coding	Pathogenic
1	171636338	G	A	G171636338A	MYOC	NM_000261.2(MYOC):c.1102C>T:p.Gln368Ter	coding	Pathogenic/Likely_pathogenic
1	171636341	C	T	C171636341T	MYOC	NM_000261.2(MYOC):c.1099G>A:p.Gly367Arg	coding	Pathogenic
1	171636349	C	A	C171636349A	MYOC	NM_000261.2(MYOC):c.1091G>T:p.Gly364Val	coding	Pathogenic
1	171636386	C	T	C171636386T	MYOC	NM_000261.2(MYOC):c.1054G>A:p.Glu352Lys	coding	Benign
1	171636399	A	G	A171636399G	MYOC	NM_000261.2(MYOC):c.1041T>C:p.Tyr347=	coding	Benign/Likely_benign
1	171636430	T	C	T171636430C	MYOC	NM_000261.2(MYOC):c.1010A>G:p.Gln337Arg	coding	Pathogenic
1	171636465	C	T	C171636465T	MYOC	NM_000261.2(MYOC):c.975G>A:p.Thr325=	coding	Benign
1	171636576	G	A	G171636576A	MYOC	NM_000261.2(MYOC):c.864C>T:p.Ile288=	coding	Benign/Likely_benign
1	171636686	C	T	C171636686T	MYOC	NM_000261.2(MYOC):c.754G>A:p.Gly252Arg	coding	Pathogenic
1	171636706	C	T	C171636706T	MYOC	NM_000261.2(MYOC):c.734G>A:p.Cys245Tyr	coding	Pathogenic
1	171638703	G	C	G171638703C	MYOC	NM_000261.2(MYOC):c.624C>G:p.Asp208Glu	coding	Benign
1	171638715	C	A	C171638715A	MYOC	NM_000261.2(MYOC):c.612G>T:p.Thr204=	coding	Benign/Likely_benign
1	171652135	T	C	T171652135C	MYOC	NM_000261.2(MYOC):c.477A>G:p.Leu159=	coding	Benign
1	171652468	C	A	C171652468A	MYOC	NM_000261.2(MYOC):c.144G>T:p.Gln48His	coding	Pathogenic
1	171652476	G	A	G171652476A	MYOC	NM_000261.2(MYOC):c.136C>T:p.Arg46Ter	coding	Benign/Likely_benign
1	171652573	A	C	A171652573C	MYOC	NM_000261.2(MYOC):c.39T>G:p.Pro13=	coding	Benign
1	171652578	C	G	C171652578G	MYOC	NM_000261.2(MYOC):c.34G>C:p.Gly12Arg	coding	Benign/Likely_benign
1	172379182	C	T	C172379182T	DNM3	NM_015569.5(DNM3):c.2058C>T:p.Asn686=	coding	Benign
1	172388786	G	A	G172388786A	DNM3	NM_015569.5(DNM3):c.2499G>A:p.Thr833=	coding	Benign
1	172442125	A	G	A172442125G	PIGC	NM_153747.2(PIGC):c.498T>C:p.Tyr166=	coding	Benign
1	172442356	A	G	A172442356G	PIGC	NM_153747.2(PIGC):c.267T>C:p.Gly89=	coding	Benign
1	172575575	T	C	T172575575C	SUCO	NM_014283.5(SUCO):c.1215T>C:p.Asn405=	coding	Benign
1	172589073	T	A	T172589073A	SUCO	NM_014283.5(SUCO):c.1972T>A:p.Tyr658Asn	coding	Benign
1	172659309	G	A	G172659309A	FASLG	NM_000639.3(FASLG):c.108G>A:p.Val36=	coding	Benign/Likely_benign
1	172659348	G	A	G172659348A	FASLG	NM_000639.3(FASLG):c.147G>A:p.Pro49=	coding	Benign
1	172659375	G	A	G172659375A	FASLG	NM_000639.3(FASLG):c.174G>A:p.Pro58=	coding	Benign/Likely_benign
1	172659378	G	A	G172659378A	FASLG	NM_000639.3(FASLG):c.177G>A:p.Pro59=	coding	Benign
1	172660106	G	C	G172660106C	FASLG	NM_000639.3(FASLG):c.360G>C:p.Gln120His	coding	Benign
1	172664319	C	G	C172664319G	FASLG	NM_000639.3(FASLG):c.395-15C>G	noncoding	Benign
1	172664398	T	A	T172664398A	FASLG	NM_000639.3(FASLG):c.451+8T>A	noncoding	Benign/Likely_benign
1	172666019	G	T	G172666019T	FASLG	NM_000639.3(FASLG):c.*3G>T	noncoding	Benign
1	172666422	G	T	G172666422T	FASLG	NM_000639.3(FASLG):c.*406G>T	noncoding	Benign
1	172666622	T	A	T172666622A	FASLG	NM_000639.3(FASLG):c.*606T>A	noncoding	Benign
1	172666741	A	G	A172666741G	FASLG	NM_000639.3(FASLG):c.*725A>G	noncoding	Benign
1	172666770	G	A	G172666770A	FASLG	NM_000639.3(FASLG):c.*754G>A	noncoding	Benign
1	172666833	A	G	A172666833G	FASLG	NM_000639.3(FASLG):c.*817A>G	noncoding	Benign
1	173188537	G	A	G173188537A	TNFSF4	NM_003326.5(TNFSF4):c.186C>T:p.Ile62=	coding	Benign
1	173481318	C	G	C173481318G	PRDX6	NM_004905.3(PRDX6):c.96-8C>G	noncoding	Benign
1	173557345	G	T	G173557345T	SLC9C2	NM_178527.4(SLC9C2):c.1210C>A:p.Gln404Lys	coding	Benign
1	173825249	T	A	T173825249A	DARS2	NM_018122.5(DARS2):c.20T>A:p.Leu7Ter	coding	Pathogenic
1	173825357	G	A	G173825357A	DARS2	NM_018122.5(DARS2):c.127+1G>A	coding	Pathogenic
1	173826692	A	G	A173826692G	DARS2	NM_018122.5(DARS2):c.133A>G:p.Ser45Gly	coding	Pathogenic
1	173826782	C	T	C173826782T	DARS2	NM_018122.5(DARS2):c.223C>T:p.Arg75Ter	coding	Pathogenic
1	173827031	A	G	A173827031G	DARS2	NM_018122.5(DARS2):c.227+245A>G	noncoding	Benign
1	173828088	T	C	T173828088C	DARS2	NM_018122.5(DARS2):c.228-245T>C	noncoding	Benign
1	173828311	T	A	T173828311A	DARS2	NM_018122.5(DARS2):c.228-22T>A	noncoding	Pathogenic
1	173828313	T	C	T173828313C	DARS2	NM_018122.5(DARS2):c.228-20T>C	noncoding	Benign
1	173828314	C	T	C173828314T	DARS2	NM_018122.5(DARS2):c.228-19C>T	noncoding	Benign
1	173828321	C	G	C173828321G	DARS2	NM_018122.5(DARS2):c.228-12C>G	noncoding	Benign
1	173828614	A	G	A173828614G	DARS2	NM_018122.5(DARS2):c.294+215A>G	noncoding	Benign
1	173830763	T	G	T173830763G	DARS2	NM_018122.5(DARS2):c.396+2T>G	noncoding	Pathogenic
1	173831529	T	G	T173831529G	DARS2	NM_018122.5(DARS2):c.397-6T>G	noncoding	Benign
1	173831593	G	T	G173831593T	DARS2	NM_018122.5(DARS2):c.455G>T:p.Cys152Phe	coding	Pathogenic
1	173831632	T	C	T173831632C	DARS2	NM_018122.5(DARS2):c.492+2T>C	noncoding	Pathogenic
1	173833373	T	C	T173833373C	DARS2	NM_018122.5(DARS2):c.493-3T>C	noncoding	Benign
1	173833419	G	A	G173833419A	DARS2	NM_018122.5(DARS2):c.536G>A:p.Arg179His	coding	Pathogenic
1	173833463	G	A	G173833463A	DARS2	NM_018122.5(DARS2):c.580G>A:p.Val194Ile	coding	Benign/Likely_benign
1	173833470	A	G	A173833470G	DARS2	NM_018122.5(DARS2):c.587A>G:p.Lys196Arg	coding	Benign
1	173834527	T	C	T173834527C	DARS2	NM_018122.5(DARS2):c.663+8T>C	noncoding	Benign
1	173838206	C	T	C173838206T	DARS2	NM_018122.5(DARS2):c.787C>T:p.Arg263Ter	coding	Pathogenic
1	173838207	G	A	G173838207A	DARS2	NM_018122.5(DARS2):c.788G>A:p.Arg263Gln	coding	Pathogenic
1	173839539	G	A	G173839539A	DARS2	NM_018122.5(DARS2):c.1013G>A:p.Gly338Glu	coding	Benign
1	173841101	A	G	A173841101G	DARS2	NM_018122.5(DARS2):c.1128+128A>G	noncoding	Benign
1	173845120	T	C	T173845120C	DARS2	NM_018122.5(DARS2):c.1129-109T>C	noncoding	Benign
1	173850408	G	T	G173850408T	DARS2	NM_018122.5(DARS2):c.1273G>T:p.Glu425Ter	coding	Pathogenic
1	173853083	A	G	A173853083G	DARS2	NM_018122.5(DARS2):c.1345-266A>G	noncoding	Benign
1	173853873	C	A	C173853873A	DARS2	NM_018122.5(DARS2):c.1642C>A:p.Leu548Met	coding	Benign/Likely_benign
1	173856554	T	G	T173856554G	DARS2	NM_018122.5(DARS2):c.1675-112T>G	noncoding	Benign
1	173856760	T	G	T173856760G	DARS2	NM_018122.5(DARS2):c.1750+19T>G	noncoding	Benign
1	173857592	C	T	C173857592T	DARS2	NM_018122.5(DARS2):c.1825C>T:p.Arg609Trp	coding	Pathogenic
1	173857604	C	T	C173857604T	DARS2	NM_018122.5(DARS2):c.1837C>T:p.Leu613Phe	coding	Pathogenic
1	173857643	C	G	C173857643G	DARS2	NM_018122.5(DARS2):c.1876C>G:p.Leu626Val	coding	Pathogenic
1	173857644	T	A	T173857644A	DARS2	NM_018122.5(DARS2):c.1877T>A:p.Leu626Gln	coding	Pathogenic
1	173857915	T	C	T173857915C	DARS2	NM_018122.5(DARS2):c.*210T>C	noncoding	Benign
1	173903902	G	A	G173903902A	SERPINC1	NM_000488.3(SERPINC1):c.1382C>T:p.Pro461Leu	coding	Pathogenic
1	173903968	G	A	G173903968A	SERPINC1	NM_000488.3(SERPINC1):c.1316C>T:p.Pro439Leu	coding	Pathogenic
1	173903978	C	T	C173903978T	SERPINC1	NM_000488.3(SERPINC1):c.1306G>A:p.Ala436Thr	coding	Pathogenic
1	173904007	G	A	G173904007A	SERPINC1	NM_000488.3(SERPINC1):c.1277C>T:p.Ser426Leu	coding	Pathogenic
1	173904010	C	G	C173904010G	SERPINC1	NM_000488.3(SERPINC1):c.1274G>C:p.Arg425Pro	coding	Pathogenic
1	173904010	C	T	C173904010T	SERPINC1	NM_000488.3(SERPINC1):c.1274G>A:p.Arg425His	coding	Pathogenic
1	173904011	G	A	G173904011A	SERPINC1	NM_000488.3(SERPINC1):c.1273C>T:p.Arg425Cys	coding	Pathogenic
1	173904013	C	T	C173904013T	SERPINC1	NM_000488.3(SERPINC1):c.1271G>A:p.Gly424Asp	coding	Pathogenic
1	173904038	C	G	C173904038G	SERPINC1	NM_000488.3(SERPINC1):c.1246G>C:p.Ala416Pro	coding	Pathogenic
1	173904044	C	T	C173904044T	SERPINC1	NM_000488.3(SERPINC1):c.1240G>A:p.Ala414Thr	coding	Pathogenic
1	173907519	A	G	A173907519G	SERPINC1	NM_000488.3(SERPINC1):c.1154-5T>C	noncoding	Benign
1	173907528	C	T	C173907528T	SERPINC1	NM_000488.3(SERPINC1):c.1154-14G>A	noncoding	Pathogenic/Likely_pathogenic
1	173909564	A	G	A173909564G	SERPINC1	NM_000488.3(SERPINC1):c.1141T>C:p.Ser381Pro	coding	Pathogenic
1	173909694	T	C	T173909694C	SERPINC1	NM_000488.3(SERPINC1):c.1011A>G:p.Gln337=	coding	Benign
1	173909700	C	T	C173909700T	SERPINC1	NM_000488.3(SERPINC1):c.1005G>A:p.Val335=	coding	Benign/Likely_benign
1	173909724	T	C	T173909724C	SERPINC1	NM_000488.3(SERPINC1):c.981A>G:p.Val327=	coding	Benign
1	173909791	G	T	G173909791T	SERPINC1	NM_000488.3(SERPINC1):c.914C>A:p.Pro305His	coding	Benign/Likely_benign
1	173910823	G	A	G173910823A	SERPINC1	NM_000488.3(SERPINC1):c.693C>T:p.Thr231=	coding	Benign
1	173910838	G	A	G173910838A	SERPINC1	NM_000488.3(SERPINC1):c.678C>T:p.Thr226=	coding	Benign/Likely_benign
1	173910849	A	G	A173910849G	SERPINC1	NM_000488.3(SERPINC1):c.667T>C:p.Ser223Pro	coding	Pathogenic
1	173911798	C	T	C173911798T	SERPINC1	NM_000488.3(SERPINC1):c.624+1G>A	noncoding	Pathogenic
1	173911923	T	G	T173911923G	SERPINC1	NM_000488.3(SERPINC1):c.500A>C:p.Asn167Thr	coding	Pathogenic
1	173911942	G	A	G173911942A	SERPINC1	NM_000488.3(SERPINC1):c.481C>T:p.Arg161Ter	coding	Pathogenic
1	173911981	A	G	A173911981G	SERPINC1	NM_000488.3(SERPINC1):c.442T>C:p.Ser148Pro	coding	Pathogenic
1	173914570	G	A	G173914570A	SERPINC1	NM_000488.3(SERPINC1):c.391C>T:p.Leu131Phe	coding	Pathogenic/Likely_pathogenic
1	173914582	A	G	A173914582G	SERPINC1	NM_000488.3(SERPINC1):c.379T>C:p.Cys127Arg	coding	Pathogenic
1	173914620	C	T	C173914620T	SERPINC1	NM_000488.3(SERPINC1):c.341G>A:p.Ser114Asn	coding	Pathogenic
1	173914726	G	A	G173914726A	SERPINC1	NM_000488.3(SERPINC1):c.235C>T:p.Arg79Cys	coding	Pathogenic/Likely_pathogenic
1	173914726	G	T	G173914726T	SERPINC1	NM_000488.3(SERPINC1):c.235C>A:p.Arg79Ser	coding	Pathogenic
1	173914743	G	A	G173914743A	SERPINC1	NM_000488.3(SERPINC1):c.218C>T:p.Pro73Leu	coding	Pathogenic/Likely_pathogenic
1	173914802	G	T	G173914802T	SERPINC1	NM_000488.3(SERPINC1):c.159C>A:p.Cys53Ter	coding	Pathogenic
1	173914845	A	T	A173914845T	SERPINC1	NM_001365052.1(SERPINC1):c.-29T>A	coding	Pathogenic
1	173914893	A	G	A173914893G	SERPINC1	NM_001365052.1(SERPINC1):c.-77T>C	coding	Pathogenic
1	173961790	G	C	G173961790C	RC3H1	NM_172071.4(RC3H1):c.2137C>G:p.Gln713Glu	coding	Benign
1	173961865	G	A	G173961865A	RC3H1	NM_172071.4(RC3H1):c.2062C>T:p.Arg688Ter	coding	Pathogenic
1	174449174	C	T	C174449174T	GPR52	NM_005684.5(GPR52):c.1063C>T:p.Arg355Trp	coding	Benign
1	175006836	A	G	A175006836G	CACYBP	NM_014412.3(CACYBP):c.327A>G:p.Thr109=	coding	Benign
1	175008715	A	G	A175008715G	CACYBP	NM_014412.3(CACYBP):c.530+9A>G	noncoding	Benign
1	175014734	G	A	G175014734A	MRPS14	NM_022100.3(MRPS14):c.322C>T:p.Arg108Cys	coding	Pathogenic
1	175085490	G	T	G175085490T	TNN	NM_022093.2(TNN):c.1320G>T:p.Arg440Ser	coding	Benign
1	175324434	C	T	C175324434T	TNR	NM_003285.3(TNR):c.3879G>A:p.Ser1293=	coding	Benign
1	175330113	G	A	G175330113A	TNR	NM_003285.3(TNR):c.3754C>T:p.Leu1252=	coding	Benign
1	175335768	G	A	G175335768A	TNR	NM_003285.3(TNR):c.3574C>T:p.Arg1192Trp	coding	Pathogenic
1	175337622	G	A	G175337622A	TNR	NM_003285.3(TNR):c.3440C>T:p.Thr1147Ile	coding	Benign
1	175354458	G	A	G175354458A	TNR	NM_003285.3(TNR):c.3315C>T:p.Tyr1105=	coding	Benign
1	175355581	G	A	G175355581A	TNR	NM_003285.3(TNR):c.3171C>T:p.Ala1057=	coding	Benign
1	175356380	G	A	G175356380A	TNR	NM_003285.3(TNR):c.3057C>T:p.Ala1019=	coding	Benign
1	175362686	C	G	C175362686G	TNR	NM_003285.3(TNR):c.2831G>C:p.Arg944Pro	coding	Benign
1	175362804	G	A	G175362804A	TNR	NM_003285.3(TNR):c.2713C>T:p.Arg905Ter	coding	Pathogenic
1	175365047	T	C	T175365047C	TNR	NM_003285.3(TNR):c.2550A>G:p.Thr850=	coding	Benign
1	175367257	G	A	G175367257A	TNR	NM_003285.3(TNR):c.2004C>T:p.Ala668=	coding	Benign
1	175386060	G	A	G175386060A	TNR	NM_003285.3(TNR):c.1749C>T:p.Ser583=	coding	Benign
1	175386081	G	A	G175386081A	TNR	NM_003285.3(TNR):c.1728C>T:p.Ala576=	coding	Benign
1	175391295	G	A	G175391295A	TNR	NM_003285.3(TNR):c.1500C>T:p.Val500=	coding	Benign
1	175403211	C	T	C175403211T	TNR	NM_003285.3(TNR):c.905G>A:p.Ser302Asn	coding	Benign
1	175406379	G	A	G175406379A	TNR	NM_003285.3(TNR):c.336C>T:p.Val112=	coding	Benign
1	175406508	G	C	G175406508C	TNR	NM_003285.3(TNR):c.207C>G:p.Tyr69Ter	coding	Pathogenic
1	175406643	G	A	G175406643A	TNR	NM_003285.3(TNR):c.72C>T:p.Ser24=	coding	Benign
1	175989442	T	C	T175989442C	COP1	NM_022457.7(COP1):c.1767A>G:p.Lys589=	coding	Benign
1	176135083	T	C	T176135083C	COP1	NM_022457.7(COP1):c.895A>G:p.Met299Val	coding	Benign
1	176136495	C	G	C176136495G	COP1	NM_022457.7(COP1):c.884G>C:p.Arg295Thr	coding	Benign
1	176556834	C	G	C176556834G	PAPPA2	NM_020318.3(PAPPA2):c.512C>G:p.Thr171Ser	coding	Benign
1	176556865	C	T	C176556865T	PAPPA2	NM_020318.3(PAPPA2):c.543C>T:p.Asn181=	coding	Benign
1	176671099	C	T	C176671099T	PAPPA2	NM_020318.3(PAPPA2):c.2121C>T:p.Asp707=	coding	Benign
1	176695750	C	T	C176695750T	PAPPA2	NM_020318.3(PAPPA2):c.2637C>T:p.Ser879=	coding	Benign
1	176699406	C	T	C176699406T	PAPPA2	NM_020318.3(PAPPA2):c.3053C>T:p.Ser1018Leu	coding	Benign
1	176699524	C	T	C176699524T	PAPPA2	NM_020318.3(PAPPA2):c.3171C>T:p.Arg1057=	coding	Benign
1	176710035	T	C	T176710035C	PAPPA2	NM_020318.3(PAPPA2):c.3510T>C:p.Phe1170=	coding	Benign
1	176710175	T	C	T176710175C	PAPPA2	NM_020318.3(PAPPA2):c.3650T>C:p.Leu1217Pro	coding	Benign
1	176769675	C	T	C176769675T	PAPPA2	NM_020318.3(PAPPA2):c.4392C>T:p.Cys1464=	coding	Benign
1	176771044	G	T	G176771044T	PAPPA2	NM_020318.3(PAPPA2):c.4579G>T:p.Ala1527Ser	coding	Benign
1	177276259	C	T	C177276259T	BRINP2	NM_021165.4(BRINP2):c.837C>T:p.Tyr279=	coding	Benign
1	177930564	T	C	T177930564C	SEC16B	NM_033127.3(SEC16B):c.3092A>G:p.Asn1031Ser	coding	Benign
1	177933233	G	A	G177933233A	SEC16B	NM_033127.3(SEC16B):c.2804C>T:p.Ser935Leu	coding	Benign
1	177961698	G	A	G177961698A	SEC16B	NM_033127.3(SEC16B):c.679C>T:p.Arg227Cys	coding	Benign
1	177967930	C	T	C177967930T	SEC16B	NM_033127.3(SEC16B):c.52G>A:p.Ala18Thr	coding	Benign
1	178441554	C	T	C178441554T	RASAL2	NM_170692.3(RASAL2):c.834C>T:p.Thr278=	coding	Benign
1	178458424	G	C	G178458424C	RASAL2	NM_170692.3(RASAL2):c.3132G>C:p.Val1044=	coding	Benign
1	178852705	G	A	G178852705A	ANGPTL1	NM_004673.4(ANGPTL1):c.1266C>T:p.Asp422=	coding	Benign
1	179108478	T	C	T179108478C	ABL2	NM_007314.4(ABL2):c.2789A>G:p.Lys930Arg	coding	Benign
1	179341109	G	A	G179341109A	SOAT1	NM_003101.6(SOAT1):c.579G>A:p.Leu193=	coding	Benign
1	179341140	C	G	C179341140G	SOAT1	NM_003101.6(SOAT1):c.610C>G:p.Gln204Glu	coding	Benign
1	179341178	G	A	G179341178A	SOAT1	NM_003101.6(SOAT1):c.648G>A:p.Pro216=	coding	Benign
1	179342188	A	G	A179342188G	SOAT1	NM_003101.6(SOAT1):c.855A>G:p.Lys285=	coding	Benign
1	179550745	T	C	T179550745C	NPHS2	NM_144696.6(AXDND1):c.3032-3767T>C	coding	Benign
1	179550915	T	C	T179550915C	NPHS2	NM_144696.6(AXDND1):c.3032-3597T>C	coding	Benign
1	179550973	C	T	C179550973T	NPHS2	NM_144696.6(AXDND1):c.3032-3539C>T	coding	Benign
1	179551016	C	T	C179551016T	NPHS2	NM_144696.6(AXDND1):c.3032-3496C>T	coding	Benign
1	179551119	C	G	C179551119G	NPHS2	NM_144696.6(AXDND1):c.3032-3393C>G	coding	Benign
1	179551287	T	C	T179551287C	NPHS2	NM_144696.6(AXDND1):c.3032-3225T>C	coding	Benign/Likely_benign
1	179551361	G	A	G179551361A	NPHS2	NM_144696.6(AXDND1):c.3032-3151G>A	coding	Pathogenic/Likely_pathogenic
1	179551371	G	A	G179551371A	NPHS2	NM_144696.6(AXDND1):c.3032-3141G>A	coding	Benign
1	179551396	T	A	T179551396A	NPHS2	NM_144696.6(AXDND1):c.3032-3116T>A	coding	Pathogenic
1	179551397	C	A	C179551397A	NPHS2	NM_014625.4(NPHS2):c.928G>T:p.Glu310Ter	coding	Pathogenic
1	179551434	C	T	C179551434T	NPHS2	NM_014625.4(NPHS2):c.891G>A:p.Ala297=	coding	Benign
1	179552593	G	A	G179552593A	NPHS2	NM_014625.4(NPHS2):c.873+10C>T	noncoding	Benign
1	179552596	T	C	T179552596C	NPHS2	NM_144696.6(AXDND1):c.3032-1916T>C	noncoding	Benign/Likely_benign
1	179552601	A	T	A179552601T	NPHS2	NM_144696.6(AXDND1):c.3032-1911A>T	noncoding	Pathogenic/Likely_pathogenic
1	179552605	G	A	G179552605A	NPHS2	NM_144696.6(AXDND1):c.3032-1907G>A	coding	Pathogenic/Likely_pathogenic
1	179552608	C	T	C179552608T	NPHS2;AXDND1	NM_014625.4(NPHS2):c.868G>A:p.Val290Met	coding	Pathogenic/Likely_pathogenic
1	179552625	G	A	G179552625A	NPHS2	NM_144696.6(AXDND1):c.3032-1887G>A	coding	Pathogenic/Likely_pathogenic
1	179552664	G	A	G179552664A	NPHS2	NM_144696.6(AXDND1):c.3032-1848G>A	coding	Pathogenic
1	179557051	C	A	C179557051A	NPHS2	NM_014625.3(NPHS2):c.714G>T:p.Arg238Ser	coding	Pathogenic/Likely_pathogenic
1	179557122	G	A	G179557122A	NPHS2	NM_014625.3(NPHS2):c.643C>T:p.Gln215Ter	coding	Pathogenic/Likely_pathogenic
1	179557179	G	A	G179557179A	NPHS2	NM_014625.3(NPHS2):c.586C>T:p.Arg196Ter	coding	Pathogenic/Likely_pathogenic
1	179557227	C	T	C179557227T	NPHS2	NM_014625.3(NPHS2):c.538G>A:p.Val180Met	coding	Pathogenic
1	179557231	C	A	C179557231A	NPHS2	NM_014625.4(NPHS2):c.535-1G>T	coding	Pathogenic
1	179559710	C	T	C179559710T	NPHS2	NM_014625.3(NPHS2):c.503G>A:p.Arg168His	coding	Pathogenic/Likely_pathogenic
1	179559734	T	C	T179559734C	NPHS2	NM_014625.3(NPHS2):c.479A>G:p.Asp160Gly	coding	Pathogenic
1	179559762	C	T	C179559762T	NPHS2	NM_014625.3(NPHS2):c.452-1G>A	coding	Pathogenic
1	179561328	G	A	G179561328A	NPHS2	NM_014625.3(NPHS2):c.412C>T:p.Arg138Ter	coding	Pathogenic
1	179561355	G	A	G179561355A	NPHS2	NM_014625.3(NPHS2):c.385C>T:p.Gln129Ter	coding	Pathogenic
1	179564689	C	T	C179564689T	NPHS2	NM_014625.3(NPHS2):c.378+1G>A	noncoding	Pathogenic
1	179564715	G	A	G179564715A	NPHS2	NM_014625.3(NPHS2):c.353C>T:p.Pro118Leu	coding	Pathogenic
1	179564780	G	A	G179564780A	NPHS2	NM_014625.3(NPHS2):c.288C>T:p.Ser96=	coding	Benign/Likely_benign
1	179575591	C	A	C179575591A	NPHS2	NM_014625.3(NPHS2):c.274G>T:p.Gly92Cys	coding	Pathogenic
1	179575606	C	A	C179575606A	NPHS2	NM_014625.4(NPHS2):c.259G>T:p.Glu87Ter	coding	Pathogenic
1	179575654	G	A	G179575654A	NPHS2	NM_014625.3(NPHS2):c.211C>T:p.Arg71Ter	coding	Pathogenic
1	179575683	G	A	G179575683A	NPHS2	NM_014625.3(NPHS2):c.182C>T:p.Ala61Val	coding	Benign/Likely_benign
1	179575741	C	T	C179575741T	NPHS2	NM_014625.3(NPHS2):c.124G>A:p.Gly42Arg	coding	Benign/Likely_benign
1	179575750	G	A	G179575750A	NPHS2	NM_014625.3(NPHS2):c.115C>T:p.Gln39Ter	coding	Pathogenic
1	179575763	T	C	T179575763C	NPHS2	NM_014625.3(NPHS2):c.102A>G:p.Gly34=	coding	Benign
1	179575915	C	A	C179575915A	NPHS2	NM_014625.3(NPHS2):c.-51G>T	noncoding	Benign
1	179575916	G	C	G179575916C	NPHS2	NM_014625.3(NPHS2):c.-52C>G	noncoding	Benign
1	179595698	A	G	A179595698G	TDRD5	NM_001199085.3(TDRD5):c.711A>G:p.Pro237=	coding	Benign
1	179654294	A	G	A179654294G	TDRD5	NM_001199085.3(TDRD5):c.2254A>G:p.Asn752Asp	coding	Benign
1	179663368	T	A	T179663368A	TDRD5	NM_001199085.3(TDRD5):c.2526T>A:p.Pro842=	coding	Benign
1	179882572	C	G	C179882572G	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.70C>G:p.Pro24Ala	coding	Benign
1	179882930	C	T	C179882930T	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.428C>T:p.Ser143Phe	coding	Benign
1	179882939	T	C	T179882939C	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.437T>C:p.Met146Thr	coding	Benign
1	179889335	G	A	G179889335A	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.579G>A:p.Arg193=	coding	Benign/Likely_benign
1	179900161	G	T	G179900161T	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.649G>T:p.Glu217Ter	coding	Pathogenic
1	179903989	C	T	C179903989T	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.766C>T:p.Gln256Ter	coding	Pathogenic
1	179907853	C	G	C179907853G	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.830C>G:p.Pro277Arg	coding	Benign
1	179908645	A	C	A179908645C	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.882A>C:p.Gln294His	coding	Benign
1	179913999	T	C	T179913999C	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.912T>C:p.Asn304=	coding	Benign
1	179914038	A	G	A179914038G	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.951A>G:p.Pro317=	coding	Benign
1	179914055	G	A	G179914055A	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.967+1G>A	coding	Benign
1	179914071	A	G	A179914071G	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.967+17A>G	noncoding	Benign
1	179917990	G	A	G179917990A	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.1506G>A:p.Ala502=	coding	Benign
1	180014018	A	G	A180014018G	CEP350	NM_014810.5(CEP350):c.1565A>G:p.Asp522Gly	coding	Benign
1	180094310	G	C	G180094310C	CEP350	NM_014810.5(CEP350):c.8205G>C:p.Lys2735Asn	coding	Benign
1	180166566	A	G	A180166566G	QSOX1	NM_002826.5(QSOX1):c.341A>G:p.Asn114Ser	coding	Benign
1	180186188	C	A	C180186188A	QSOX1	NM_002826.5(QSOX1):c.1017+6C>A	noncoding	Benign
1	180190486	G	A	G180190486A	QSOX1	NM_002826.5(QSOX1):c.1194G>A:p.Pro398=	coding	Benign
1	180196252	C	T	C180196252T	QSOX1	NM_002826.5(QSOX1):c.1469-10C>T	noncoding	Benign
1	180196583	C	T	C180196583T	QSOX1	NM_002826.5(QSOX1):c.1790C>T:p.Pro597Leu	coding	Benign
1	180196607	G	C	G180196607C	QSOX1	NM_002826.5(QSOX1):c.1814G>C:p.Arg605Pro	coding	Benign
1	180196812	C	A	C180196812A	QSOX1	NM_002826.5(QSOX1):c.2019C>A:p.Arg673=	coding	Benign
1	180230410	C	T	C180230410T	LHX4	NM_033343.4(LHX4):c.-120C>T	noncoding	Benign
1	180230592	T	C	T180230592C	LHX4	NM_033343.4(LHX4):c.63T>C:p.Gly21=	coding	Benign
1	180266527	C	T	C180266527T	LHX4	NM_033343.4(LHX4):c.384C>T:p.Asp128=	coding	Benign
1	180266528	G	A	G180266528A	LHX4	NM_033343.4(LHX4):c.385G>A:p.Glu129Lys	coding	Benign
1	180266593	C	T	C180266593T	LHX4	NM_033343.4(LHX4):c.450C>T:p.Asn150=	coding	Benign
1	180271375	T	C	T180271375C	LHX4	NM_033343.4(LHX4):c.452-5T>C	coding	Benign
1	180271378	A	C	A180271378C	LHX4	NM_033343.4(LHX4):c.452-2A>C	coding	Pathogenic
1	180271497	T	G	T180271497G	LHX4	NM_033343.4(LHX4):c.569T>G:p.Leu190Arg	coding	Pathogenic
1	180271834	G	C	G180271834C	LHX4	NM_033343.4(LHX4):c.607-1G>C	coding	Pathogenic
1	180271856	G	C	G180271856C	LHX4	NM_033343.4(LHX4):c.628G>C:p.Ala210Pro	coding	Pathogenic
1	180271918	C	T	C180271918T	LHX4	NM_033343.4(LHX4):c.690C>T:p.Ser230=	coding	Benign
1	180272020	G	T	G180272020T	LHX4	NM_033343.4(LHX4):c.778+14G>T	noncoding	Benign
1	180274330	T	C	T180274330C	LHX4	NM_033343.4(LHX4):c.924T>C:p.Tyr308=	coding	Benign/Likely_benign
1	180274389	A	G	A180274389G	LHX4	NM_033343.4(LHX4):c.983A>G:p.Asn328Ser	coding	Benign
1	180274566	A	C	A180274566C	LHX4	NM_033343.4(LHX4):c.1160A>C:p.His387Pro	coding	Benign
1	180274568	C	A	C180274568A	LHX4	NM_033343.4(LHX4):c.1162C>A:p.Pro388Thr	coding	Pathogenic
1	180274571	C	A	C180274571A	LHX4	NM_033343.4(LHX4):c.1165C>A:p.Pro389Thr	coding	Benign
1	180274596	C	A	C180274596A	LHX4	NM_033343.4(LHX4):c.*17C>A	noncoding	Benign
1	180274676	T	G	T180274676G	LHX4	NM_033343.4(LHX4):c.*97T>G	noncoding	Benign
1	180274698	T	C	T180274698C	LHX4	NM_033343.4(LHX4):c.*119T>C	noncoding	Benign
1	180274709	C	T	C180274709T	LHX4	NM_033343.4(LHX4):c.*130C>T	noncoding	Benign
1	180274865	G	C	G180274865C	LHX4	NM_033343.4(LHX4):c.*286G>C	noncoding	Benign
1	180275024	G	T	G180275024T	LHX4	NM_033343.4(LHX4):c.*445G>T	noncoding	Benign
1	180288468	A	C	A180288468C	ACBD6	NM_032360.4(ACBD6):c.744T>G:p.Gly248=	coding	Benign
1	180502171	A	G	A180502171G	ACBD6	NM_032360.4(ACBD6):c.96T>C:p.His32=	coding	Benign
1	180803571	G	A	G180803571A	XPR1	NM_004736.4(XPR1):c.407G>A:p.Ser136Asn	coding	Pathogenic
1	180803583	T	C	T180803583C	XPR1	NM_004736.4(XPR1):c.419T>C:p.Leu140Pro	coding	Pathogenic
1	180803598	T	C	T180803598C	XPR1	NM_004736.4(XPR1):c.434T>C:p.Leu145Pro	coding	Pathogenic
1	180806529	T	C	T180806529C	XPR1	NM_004736.4(XPR1):c.653T>C:p.Leu218Ser	coding	Pathogenic
1	180824808	G	T	G180824808T	XPR1	NM_004736.4(XPR1):c.819G>T:p.Arg273=	coding	Benign
1	180824910	G	A	G180824910A	XPR1	NM_004736.4(XPR1):c.921G>A:p.Pro307=	coding	Benign
1	180834867	C	T	C180834867T	XPR1	NM_004736.4(XPR1):c.1135-7C>T	noncoding	Benign
1	180835053	A	G	A180835053G	XPR1	NM_004736.4(XPR1):c.1306+8A>G	noncoding	Benign
1	180880091	C	T	C180880091T	XPR1	NM_004736.4(XPR1):c.1824C>T:p.Asn608=	coding	Benign
1	181049146	T	C	T181049146C	MR1	NM_001194999.1(MR1):c.162T>C:p.Pro54=	coding	Benign
1	181483801	G	A	G181483801A	CACNA1E	NM_001205293.3(CACNA1E):c.57G>A:p.Ser19=	coding	Benign
1	181651440	G	A	G181651440A	CACNA1E	NM_001205293.3(CACNA1E):c.1054G>A:p.Gly352Arg	coding	Pathogenic/Likely_pathogenic
1	181724489	C	A	C181724489A	CACNA1E	NM_001205293.3(CACNA1E):c.2094C>A:p.Phe698Leu	coding	Pathogenic
1	181724496	A	G	A181724496G	CACNA1E	NM_001205293.3(CACNA1E):c.2101A>G:p.Ile701Val	coding	Pathogenic
1	181724499	G	A	G181724499A	CACNA1E	NM_001205293.3(CACNA1E):c.2104G>A:p.Ala702Thr	coding	Pathogenic/Likely_pathogenic
1	181732674	G	A	G181732674A	CACNA1E	NM_001205293.3(CACNA1E):c.2588G>A:p.Arg863Gln	coding	Benign
1	181758811	C	T	C181758811T	CACNA1E	NM_001205293.3(CACNA1E):c.4548C>T:p.Ala1516=	coding	Benign
1	181762567	T	C	T181762567C	CACNA1E	NM_001205293.3(CACNA1E):c.4606-7T>C	noncoding	Benign
1	181763450	C	T	C181763450T	CACNA1E	NM_001205293.3(CACNA1E):c.4734C>T:p.Phe1578=	coding	Benign
1	181771316	C	T	C181771316T	CACNA1E	NM_001205293.3(CACNA1E):c.4905C>T:p.Asp1635=	coding	Benign
1	181785743	C	A	C181785743A	CACNA1E	NM_001205293.3(CACNA1E):c.5710C>A:p.Pro1904Thr	coding	Benign
1	182381761	C	G	C182381761G	GLUL	NM_001033044.4(GLUL):c.*2644G>C	noncoding	Benign
1	182381774	C	T	C182381774T	GLUL	NM_001033044.4(GLUL):c.*2631G>A	noncoding	Benign
1	182381889	T	C	T182381889C	GLUL	NM_001033044.4(GLUL):c.*2516A>G	noncoding	Benign
1	182382098	G	A	G182382098A	GLUL	NM_001033044.4(GLUL):c.*2307C>T	noncoding	Benign
1	182382287	A	G	A182382287G	GLUL	NM_001033044.4(GLUL):c.*2118T>C	noncoding	Benign
1	182382447	C	T	C182382447T	GLUL	NM_001033044.4(GLUL):c.*1958G>A	noncoding	Benign
1	182382492	T	A	T182382492A	GLUL	NM_001033044.4(GLUL):c.*1913A>T	noncoding	Benign
1	182382994	G	A	G182382994A	GLUL	NM_001033044.4(GLUL):c.*1411C>T	noncoding	Benign
1	182383041	C	T	C182383041T	GLUL	NM_001033044.4(GLUL):c.*1364G>A	noncoding	Benign
1	182383065	G	T	G182383065T	GLUL	NM_001033044.4(GLUL):c.*1340C>A	noncoding	Benign
1	182383129	G	A	G182383129A	GLUL	NM_001033044.4(GLUL):c.*1276C>T	noncoding	Benign
1	182383439	T	C	T182383439C	GLUL	NM_001033044.4(GLUL):c.*966A>G	noncoding	Benign
1	182383486	T	C	T182383486C	GLUL	NM_001033044.4(GLUL):c.*919A>G	noncoding	Benign
1	182383858	G	T	G182383858T	GLUL	NM_001033044.4(GLUL):c.*547C>A	noncoding	Benign
1	182384063	A	T	A182384063T	GLUL	NM_001033044.4(GLUL):c.*342T>A	noncoding	Benign
1	182384506	G	A	G182384506A	GLUL	NM_001033044.4(GLUL):c.1021C>T:p.Arg341Cys	coding	Pathogenic
1	182384557	G	A	G182384557A	GLUL	NM_001033044.4(GLUL):c.970C>T:p.Arg324Cys	coding	Pathogenic
1	182384557	G	T	G182384557T	GLUL	NM_001033044.4(GLUL):c.970C>A:p.Arg324Ser	coding	Pathogenic
1	182384702	C	T	C182384702T	GLUL	NM_001033044.4(GLUL):c.825G>A:p.Glu275=	coding	Benign
1	182385392	G	A	G182385392A	GLUL	NM_001033044.4(GLUL):c.768C>T:p.Phe256=	coding	Benign
1	182387264	A	G	A182387264G	GLUL	NM_001033044.4(GLUL):c.195T>C:p.Ser65=	coding	Benign
1	182390543	C	A	C182390543A	GLUL	NM_001033044.4(GLUL):c.-14+1136G>T	noncoding	Benign
1	182390787	C	T	C182390787T	GLUL	NM_001033044.4(GLUL):c.-14+892G>A	noncoding	Benign
1	182391708	C	G	C182391708G	GLUL	NM_001033044.4(GLUL):c.-43G>C	noncoding	Benign
1	182391795	A	G	A182391795G	GLUL	NM_002065.6(GLUL):c.-486T>C	noncoding	Benign
1	182392015	G	A	G182392015A	GLUL	NM_002065.6(GLUL):c.-706C>T	noncoding	Benign
1	182392027	C	G	C182392027G	GLUL	NM_002065.6(GLUL):c.-718G>C	noncoding	Benign
1	182585565	G	A	G182585565A	RNASEL	NM_021133.4(RNASEL):c.1242C>T:p.Asn414=	coding	Benign
1	182586468	A	G	A182586468G	RNASEL	NM_021133.4(RNASEL):c.339T>C:p.Ser113=	coding	Benign
1	182586804	C	T	C182586804T	RNASEL	NM_021133.4(RNASEL):c.3G>A:p.Met1Ile	coding	Pathogenic
1	182814848	A	G	A182814848G	NPL	NM_030769.2(NPL):c.354A>G:p.Pro118=	coding	Benign
1	182818662	G	A	G182818662A	NPL	NM_030769.2(NPL):c.579G>A:p.Gln193=	coding	Benign
1	182822206	G	A	G182822206A	NPL	NM_030769.2(NPL):c.738+7G>A	noncoding	Benign
1	182852350	G	T	G182852350T	DHX9	NM_001357.5(DHX9):c.364+6G>T	noncoding	Benign
1	182858162	G	A	G182858162A	DHX9	NM_001357.5(DHX9):c.732G>A:p.Leu244=	coding	Benign
1	182881264	C	T	C182881264T	DHX9	NM_001357.5(DHX9):c.2625C>T:p.Tyr875=	coding	Benign
1	182881348	C	T	C182881348T	DHX9	NM_001357.5(DHX9):c.2709C>T:p.Ile903=	coding	Benign
1	183116683	A	G	A183116683G	LAMC1	NM_002293.4(LAMC1):c.1427+8A>G	noncoding	Benign
1	183117424	C	T	C183117424T	LAMC1	NM_002293.4(LAMC1):c.1669C>T:p.Arg557Trp	coding	Benign
1	183121923	G	A	G183121923A	LAMC1	NM_002293.4(LAMC1):c.2191G>A:p.Glu731Lys	coding	Benign
1	183133481	C	G	C183133481G	LAMC1	NM_002293.4(LAMC1):c.3780C>G:p.Ala1260=	coding	Benign
1	183137821	A	C	A183137821C	LAMC1	NM_002293.4(LAMC1):c.4467A>C:p.Ala1489=	coding	Benign
1	183186093	C	A	C183186093A	LAMC2	NM_005562.2(LAMC2):c.-260C>A	noncoding	Benign
1	183186170	G	A	G183186170A	LAMC2	NM_005562.2(LAMC2):c.-183G>A	noncoding	Benign
1	183186264	A	G	A183186264G	LAMC2	NM_005562.3(LAMC2):c.-89A>G	noncoding	Benign
1	183186315	C	G	C183186315G	LAMC2	NM_005562.3(LAMC2):c.-38C>G	noncoding	Benign
1	183186347	C	A	C183186347A	LAMC2	NM_005562.3(LAMC2):c.-6C>A	noncoding	Benign
1	183186354	T	C	T183186354C	LAMC2	NM_005562.3(LAMC2):c.2T>C:p.Met1Thr	coding	Pathogenic
1	183186400	G	C	G183186400C	LAMC2	NM_005562.3(LAMC2):c.48G>C:p.Leu16=	coding	Benign
1	183208083	A	G	A183208083G	LAMC2	NM_005562.3(LAMC2):c.268+14A>G	noncoding	Benign
1	183215438	C	T	C183215438T	LAMC2	NM_005562.3(LAMC2):c.269-15C>T	noncoding	Benign/Likely_benign
1	183215467	C	T	C183215467T	LAMC2	NM_005562.3(LAMC2):c.283C>T:p.Arg95Ter	coding	Pathogenic
1	183215481	C	T	C183215481T	LAMC2	NM_005562.3(LAMC2):c.297C>T:p.Ser99=	coding	Benign
1	183215515	G	C	G183215515C	LAMC2	NM_005562.3(LAMC2):c.331G>C:p.Ala111Pro	coding	Benign
1	183215528	G	A	G183215528A	LAMC2	NM_005562.3(LAMC2):c.344G>A:p.Arg115Gln	coding	Benign
1	183215555	C	T	C183215555T	LAMC2	NM_005562.3(LAMC2):c.371C>T:p.Thr124Met	coding	Benign
1	183218389	G	A	G183218389A	LAMC2	NM_005562.3(LAMC2):c.405-1G>A	noncoding	Pathogenic
1	183218392	A	T	A183218392T	LAMC2	NM_005562.3(LAMC2):c.407A>T:p.Asp136Val	coding	Benign
1	183218468	C	T	C183218468T	LAMC2	NM_005562.3(LAMC2):c.483C>T:p.Val161=	coding	Benign
1	183220829	C	T	C183220829T	LAMC2	NM_005562.3(LAMC2):c.508C>T:p.Arg170Ter	coding	Pathogenic
1	183222115	C	T	C183222115T	LAMC2	NM_005562.3(LAMC2):c.667C>T:p.Arg223Ter	coding	Pathogenic/Likely_pathogenic
1	183222127	C	T	C183222127T	LAMC2	NM_005562.3(LAMC2):c.679C>T:p.Pro227Ser	coding	Benign
1	183222181	C	T	C183222181T	LAMC2	NM_005562.3(LAMC2):c.733C>T:p.Arg245Ter	coding	Pathogenic/Likely_pathogenic
1	183222189	C	A	C183222189A	LAMC2	NM_005562.3(LAMC2):c.741C>A:p.Asp247Glu	coding	Benign
1	183223169	T	G	T183223169G	LAMC2	NM_005562.3(LAMC2):c.798T>G:p.Gly266=	coding	Benign
1	183223251	C	T	C183223251T	LAMC2	NM_005562.3(LAMC2):c.880C>T:p.Leu294=	coding	Benign/Likely_benign
1	183225719	C	G	C183225719G	LAMC2	NM_005562.3(LAMC2):c.1065C>G:p.Tyr355Ter	coding	Pathogenic/Likely_pathogenic
1	183225732	C	A	C183225732A	LAMC2	NM_005562.3(LAMC2):c.1066+12C>A	noncoding	Benign
1	183226697	G	A	G183226697A	LAMC2	NM_005562.3(LAMC2):c.1067-1G>A	noncoding	Pathogenic
1	183226802	C	T	C183226802T	LAMC2	NM_005562.3(LAMC2):c.1171C>T:p.Gln391Ter	coding	Pathogenic
1	183228396	T	G	T183228396G	LAMC2	NM_005562.3(LAMC2):c.1491T>G:p.Ala497=	coding	Benign/Likely_benign
1	183228564	C	A	C183228564A	LAMC2	NM_005562.3(LAMC2):c.1659C>A:p.Cys553Ter	coding	Pathogenic
1	183228616	C	T	C183228616T	LAMC2	NM_005562.3(LAMC2):c.1711C>T:p.Arg571Ter	coding	Pathogenic
1	183232315	C	T	C183232315T	LAMC2	NM_005562.3(LAMC2):c.1986C>T:p.Asp662=	coding	Benign
1	183232672	C	T	C183232672T	LAMC2	NM_005562.3(LAMC2):c.2035C>T:p.Leu679Phe	coding	Benign
1	183232768	C	T	C183232768T	LAMC2	NM_005562.3(LAMC2):c.2131C>T:p.Gln711Ter	coding	Pathogenic
1	183232780	C	T	C183232780T	LAMC2	NM_005562.3(LAMC2):c.2143C>T:p.Arg715Ter	coding	Pathogenic
1	183232835	G	C	G183232835C	LAMC2	NM_005562.3(LAMC2):c.2198G>C:p.Ser733Thr	coding	Benign
1	183234390	C	G	C183234390G	LAMC2	NM_005562.3(LAMC2):c.2244C>G:p.Tyr748Ter	coding	Pathogenic
1	183235615	G	T	G183235615T	LAMC2	NM_005562.3(LAMC2):c.2341G>T:p.Glu781Ter	coding	Pathogenic
1	183235696	C	G	C183235696G	LAMC2	NM_005562.3(LAMC2):c.2422C>G:p.Pro808Ala	coding	Benign
1	183236478	C	T	C183236478T	LAMC2	NM_005562.3(LAMC2):c.2475C>T:p.Ser825=	coding	Benign
1	183236573	G	C	G183236573C	LAMC2	NM_005562.3(LAMC2):c.2570G>C:p.Arg857Pro	coding	Benign/Likely_benign
1	183237438	G	A	G183237438A	LAMC2	NM_005562.3(LAMC2):c.2688G>A:p.Gln896=	coding	Benign
1	183237486	T	C	T183237486C	LAMC2	NM_005562.3(LAMC2):c.2736T>C:p.Asn912=	coding	Benign/Likely_benign
1	183237513	T	C	T183237513C	LAMC2	NM_005562.3(LAMC2):c.2754+9T>C	noncoding	Benign/Likely_benign
1	183239464	C	A	C183239464A	LAMC2	NM_005562.3(LAMC2):c.2970C>A:p.Thr990=	coding	Benign
1	183239494	T	A	T183239494A	LAMC2	NM_005562.3(LAMC2):c.3000T>A:p.Ala1000=	coding	Benign
1	183240176	C	T	C183240176T	LAMC2	NM_005562.3(LAMC2):c.3206C>T:p.Thr1069Met	coding	Benign/Likely_benign
1	183243185	C	T	C183243185T	LAMC2	NM_005562.3(LAMC2):c.3367C>T:p.Leu1123=	coding	Benign
1	183243191	C	T	C183243191T	LAMC2	NM_005562.3(LAMC2):c.3373C>T:p.Gln1125Ter	coding	Pathogenic
1	183243272	C	T	C183243272T	LAMC2	NM_005562.3(LAMC2):c.3454C>T:p.Gln1152Ter	coding	Pathogenic/Likely_pathogenic
1	183243364	A	G	A183243364G	LAMC2	NM_005562.3(LAMC2):c.3546A>G:p.Pro1182=	coding	Benign/Likely_benign
1	183243413	T	G	T183243413G	LAMC2	NM_005562.3(LAMC2):c.*13T>G	noncoding	Benign
1	183243533	C	A	C183243533A	LAMC2	NM_005562.3(LAMC2):c.*133C>A	noncoding	Benign
1	183243710	G	A	G183243710A	LAMC2	NM_005562.3(LAMC2):c.*310G>A	noncoding	Benign
1	183243762	T	C	T183243762C	LAMC2	NM_005562.3(LAMC2):c.*362T>C	noncoding	Benign
1	183244000	A	G	A183244000G	LAMC2	NM_005562.3(LAMC2):c.*600A>G	noncoding	Benign
1	183244146	G	T	G183244146T	LAMC2	NM_005562.3(LAMC2):c.*746G>T	noncoding	Benign
1	183244149	G	A	G183244149A	LAMC2	NM_005562.3(LAMC2):c.*749G>A	noncoding	Benign
1	183244256	C	T	C183244256T	LAMC2	NM_005562.3(LAMC2):c.*856C>T	noncoding	Benign
1	183244275	G	T	G183244275T	LAMC2	NM_005562.3(LAMC2):c.*875G>T	noncoding	Benign
1	183244328	A	G	A183244328G	LAMC2	NM_005562.3(LAMC2):c.*928A>G	noncoding	Benign
1	183244497	C	T	C183244497T	LAMC2	NM_005562.3(LAMC2):c.*1097C>T	noncoding	Benign
1	183244635	G	C	G183244635C	LAMC2	NM_005562.3(LAMC2):c.*1235G>C	noncoding	Benign
1	183555720	C	A	C183555720A	NCF2	NM_000433.3(NCF2):c.*398G>T	noncoding	Benign
1	183560204	G	A	G183560204A	NCF2	NM_000433.3(NCF2):c.1360C>T:p.Pro454Ser	coding	Benign/Likely_benign
1	183563229	T	A	T183563229A	NCF2	NM_000433.3(NCF2):c.1256A>T:p.Asn419Ile	coding	Benign/Likely_benign
1	183563302	G	A	G183563302A	NCF2	NM_000433.3(NCF2):c.1183C>T:p.Arg395Trp	coding	Benign/Likely_benign
1	183563310	G	C	G183563310C	NCF2	NM_000433.3(NCF2):c.1179-4C>G	noncoding	Benign
1	183563445	G	T	G183563445T	NCF2	NM_000433.3(NCF2):c.1167C>A:p.His389Gln	coding	Benign
1	183563455	C	T	C183563455T	NCF2	NM_000433.3(NCF2):c.1157G>A:p.Arg386Gln	coding	Benign
1	183563492	G	A	G183563492A	NCF2	NM_000433.3(NCF2):c.1120C>T:p.Gln374Ter	coding	Pathogenic
1	183563531	T	A	T183563531A	NCF2	NM_000433.3(NCF2):c.1081A>T:p.Thr361Ser	coding	Benign/Likely_benign
1	183564040	A	C	A183564040C	NCF2	NM_000433.3(NCF2):c.1001-10T>G	noncoding	Benign/Likely_benign
1	183566954	A	G	A183566954G	NCF2	NM_000433.3(NCF2):c.890T>C:p.Val297Ala	coding	Benign
1	183567223	G	A	G183567223A	NCF2	NM_000433.3(NCF2):c.836C>T:p.Thr279Met	coding	Benign/Likely_benign
1	183570804	A	G	A183570804G	NCF2	NM_000433.4(NCF2):c.645T>C:p.Ser215=	coding	Benign
1	183573188	C	T	C183573188T	NCF2	NM_000433.3(NCF2):c.606G>A:p.Ala202=	coding	Benign
1	183573229	G	A	G183573229A	NCF2	NM_001190789.1(NCF2):c.367-2390C>T	coding	Pathogenic
1	183573252	T	C	T183573252C	NCF2	NM_000433.4(NCF2):c.542A>G:p.Lys181Arg	coding	Benign
1	183574605	G	A	G183574605A	NCF2	NM_000433.3(NCF2):c.383C>T:p.Ala128Val	coding	Pathogenic
1	183577598	C	G	C183577598G	NCF2	NM_000433.3(NCF2):c.366+1G>C	noncoding	Pathogenic
1	183577598	C	T	C183577598T	NCF2	NM_000433.3(NCF2):c.366+1G>A	noncoding	Pathogenic
1	183577661	G	A	G183577661A	NCF2	NM_000433.3(NCF2):c.304C>T:p.Arg102Ter	coding	Pathogenic
1	183577667	G	A	G183577667A	NCF2	NM_000433.3(NCF2):c.298C>T:p.Gln100Ter	coding	Pathogenic
1	183586894	C	T	C183586894T	NCF2	NM_000433.3(NCF2):c.257+1G>A	noncoding	Pathogenic
1	183586956	G	A	G183586956A	NCF2	NM_000433.4(NCF2):c.196C>T:p.Arg66Ter	coding	Pathogenic
1	183590148	C	G	C183590148G	NCF2	NM_000433.3(NCF2):c.174+8G>C	noncoding	Benign
1	183590458	A	G	A183590458G	NCF2	NM_000433.4(NCF2):c.-129T>C	noncoding	Benign
1	183590569	A	C	A183590569C	NCF2	NM_000433.3(NCF2):c.-240T>G	noncoding	Benign
1	183647821	T	C	T183647821C	APOBEC4	NM_203454.3(APOBEC4):c.961A>G:p.Asn321Asp	coding	Benign
1	183647883	T	C	T183647883C	APOBEC4	NM_203454.3(APOBEC4):c.899A>G:p.Asp300Gly	coding	Benign
1	183648195	G	C	G183648195C	APOBEC4	NM_203454.3(APOBEC4):c.587C>G:p.Ser196Cys	coding	Benign
1	183648236	C	T	C183648236T	APOBEC4	NM_203454.3(APOBEC4):c.546G>A:p.Pro182=	coding	Benign
1	183912275	A	G	A183912275G	RGL1	NM_015149.5(RGL1):c.1854+7A>G	noncoding	Benign
1	184054736	T	G	T184054736G	TSEN15	NM_052965.4(TSEN15):c.226T>G:p.Trp76Gly	coding	Pathogenic/Likely_pathogenic
1	184072258	A	G	A184072258G	TSEN15	NM_052965.4(TSEN15):c.455A>G:p.Tyr152Cys	coding	Pathogenic
1	184795276	C	T	C184795276T	NIBAN1	NM_052966.4(NIBAN1):c.2488G>A:p.Gly830Ser	coding	Benign
1	184884676	C	T	C184884676T	NIBAN1	NM_052966.4(NIBAN1):c.558G>A:p.Arg186=	coding	Benign
1	184884723	A	G	A184884723G	NIBAN1	NM_052966.4(NIBAN1):c.511T>C:p.Phe171Leu	coding	Benign
1	185298065	C	T	C185298065T	IVNS1ABP	NM_006469.5(IVNS1ABP):c.1899G>A:p.Trp633Ter	coding	Pathogenic
1	185301020	G	A	G185301020A	IVNS1ABP	NM_006469.5(IVNS1ABP):c.1072C>T:p.Arg358Ter	coding	Pathogenic
1	185301203	G	A	G185301203A	IVNS1ABP	NM_006469.5(IVNS1ABP):c.896-7C>T	noncoding	Benign
1	185734815	G	C	G185734815C	HMCN1	NM_031935.3(HMCN1):c.36G>C:p.Leu12=	coding	Benign/Likely_benign
1	185734836	C	T	C185734836T	HMCN1	NM_031935.3(HMCN1):c.57C>T:p.Ser19=	coding	Benign
1	185734893	G	T	G185734893T	HMCN1	NM_031935.3(HMCN1):c.114G>T:p.Gly38=	coding	Benign/Likely_benign
1	185864499	T	C	T185864499C	HMCN1	NM_031935.3(HMCN1):c.369T>C:p.Ile123=	coding	Benign
1	185923520	A	G	A185923520G	HMCN1	NM_031935.3(HMCN1):c.1152A>G:p.Lys384=	coding	Benign/Likely_benign
1	185923634	C	G	C185923634G	HMCN1	NM_031935.3(HMCN1):c.1266C>G:p.Ser422=	coding	Benign
1	185965867	G	A	G185965867A	HMCN1	NM_031935.3(HMCN1):c.2164G>A:p.Glu722Lys	coding	Benign/Likely_benign
1	185965923	T	G	T185965923G	HMCN1	NM_031935.3(HMCN1):c.2212+8T>G	noncoding	Benign/Likely_benign
1	185977974	T	C	T185977974C	HMCN1	NM_031935.3(HMCN1):c.2559T>C:p.Phe853=	coding	Benign
1	185982338	G	C	G185982338C	HMCN1	NM_031935.3(HMCN1):c.2739G>C:p.Leu913=	coding	Benign
1	185987516	A	T	A185987516T	HMCN1	NM_031935.3(HMCN1):c.3020A>T:p.Asn1007Ile	coding	Benign
1	185989605	A	G	A185989605G	HMCN1	NM_031935.3(HMCN1):c.3166A>G:p.Thr1056Ala	coding	Benign
1	185994859	G	T	G185994859T	HMCN1	NM_031935.3(HMCN1):c.3550G>T:p.Val1184Phe	coding	Benign
1	185995004	C	T	C185995004T	HMCN1	NM_031935.3(HMCN1):c.3695C>T:p.Thr1232Met	coding	Benign/Likely_benign
1	185997511	A	G	A185997511G	HMCN1	NM_031935.3(HMCN1):c.3861A>G:p.Pro1287=	coding	Benign
1	186001662	A	G	A186001662G	HMCN1	NM_031935.3(HMCN1):c.4269A>G:p.Pro1423=	coding	Benign
1	186003808	C	T	C186003808T	HMCN1	NM_031935.3(HMCN1):c.4439C>T:p.Thr1480Ile	coding	Benign
1	186007167	C	G	C186007167G	HMCN1	NM_031935.3(HMCN1):c.4515C>G:p.Asp1505Glu	coding	Benign
1	186007238	A	G	A186007238G	HMCN1	NM_031935.3(HMCN1):c.4586A>G:p.Asn1529Ser	coding	Benign/Likely_benign
1	186015310	A	G	A186015310G	HMCN1	NM_031935.3(HMCN1):c.4782A>G:p.Ala1594=	coding	Benign/Likely_benign
1	186015385	T	C	T186015385C	HMCN1	NM_031935.3(HMCN1):c.4857T>C:p.His1619=	coding	Benign
1	186016041	G	C	G186016041C	HMCN1	NM_031935.3(HMCN1):c.4993G>C:p.Ala1665Pro	coding	Benign
1	186016046	T	C	T186016046C	HMCN1	NM_031935.3(HMCN1):c.4998T>C:p.Ala1666=	coding	Benign
1	186016118	A	T	A186016118T	HMCN1	NM_031935.3(HMCN1):c.5070A>T:p.Ile1690=	coding	Benign/Likely_benign
1	186038865	G	T	G186038865T	HMCN1	NM_031935.3(HMCN1):c.5888G>T:p.Gly1963Val	coding	Benign
1	186039717	G	T	G186039717T	HMCN1	NM_031935.3(HMCN1):c.6029-11G>T	noncoding	Benign
1	186039724	T	C	T186039724C	HMCN1	NM_031935.3(HMCN1):c.6029-4T>C	noncoding	Benign
1	186039762	G	A	G186039762A	HMCN1	NM_031935.3(HMCN1):c.6063G>A:p.Val2021=	coding	Benign/Likely_benign
1	186041078	C	T	C186041078T	HMCN1	NM_031935.3(HMCN1):c.6246C>T:p.Thr2082=	coding	Benign
1	186055438	T	C	T186055438C	HMCN1	NM_031935.3(HMCN1):c.6908T>C:p.Ile2303Thr	coding	Benign
1	186055511	G	A	G186055511A	HMCN1	NM_031935.3(HMCN1):c.6981G>A:p.Met2327Ile	coding	Benign
1	186057342	T	C	T186057342C	HMCN1	NM_031935.3(HMCN1):c.7253T>C:p.Ile2418Thr	coding	Benign
1	186061909	C	T	C186061909T	HMCN1	NM_031935.3(HMCN1):c.7371C>T:p.Cys2457=	coding	Benign
1	186062581	G	A	G186062581A	HMCN1	NM_031935.3(HMCN1):c.7494G>A:p.Thr2498=	coding	Benign/Likely_benign
1	186062598	C	A	C186062598A	HMCN1	NM_031935.3(HMCN1):c.7511C>A:p.Thr2504Lys	coding	Benign
1	186065239	G	T	G186065239T	HMCN1	NM_031935.3(HMCN1):c.7515G>T:p.Gly2505=	coding	Benign/Likely_benign
1	186065376	T	C	T186065376C	HMCN1	NM_031935.3(HMCN1):c.7652T>C:p.Leu2551Ser	coding	Benign
1	186067946	C	T	C186067946T	HMCN1	NM_031935.3(HMCN1):c.7818C>T:p.Thr2606=	coding	Benign/Likely_benign
1	186070712	G	A	G186070712A	HMCN1	NM_031935.3(HMCN1):c.8094G>A:p.Ala2698=	coding	Benign
1	186070721	T	C	T186070721C	HMCN1	NM_031935.3(HMCN1):c.8103T>C:p.Ile2701=	coding	Benign
1	186074767	T	C	T186074767C	HMCN1	NM_031935.3(HMCN1):c.8166T>C:p.Asn2722=	coding	Benign
1	186078130	C	T	C186078130T	HMCN1	NM_031935.3(HMCN1):c.8509C>T:p.Arg2837Trp	coding	Benign
1	186081285	A	G	A186081285G	HMCN1	NM_031935.3(HMCN1):c.8678A>G:p.Glu2893Gly	coding	Benign
1	186081364	T	C	T186081364C	HMCN1	NM_031935.3(HMCN1):c.8757T>C:p.His2919=	coding	Benign
1	186082866	T	C	T186082866C	HMCN1	NM_031935.3(HMCN1):c.8789T>C:p.Ile2930Thr	coding	Benign
1	186082892	G	A	G186082892A	HMCN1	NM_031935.3(HMCN1):c.8815G>A:p.Gly2939Ser	coding	Benign/Likely_benign
1	186086239	A	G	A186086239G	HMCN1	NM_031935.3(HMCN1):c.8885-7A>G	noncoding	Benign
1	186087965	A	G	A186087965G	HMCN1	NM_031935.3(HMCN1):c.9397A>G:p.Ile3133Val	coding	Benign
1	186088215	A	T	A186088215T	HMCN1	NM_031935.3(HMCN1):c.9516A>T:p.Thr3172=	coding	Benign
1	186093188	G	A	G186093188A	HMCN1	NM_031935.3(HMCN1):c.9942G>A:p.Thr3314=	coding	Benign
1	186095422	C	A	C186095422A	HMCN1	NM_031935.3(HMCN1):c.10474C>A:p.Gln3492Lys	coding	Benign
1	186095484	T	C	T186095484C	HMCN1	NM_031935.3(HMCN1):c.10536T>C:p.Ala3512=	coding	Benign
1	186108602	A	G	A186108602G	HMCN1	NM_031935.3(HMCN1):c.10989+5A>G	noncoding	Benign
1	186115409	A	T	A186115409T	HMCN1	NM_031935.3(HMCN1):c.11556A>T:p.Ser3852=	coding	Benign/Likely_benign
1	186117446	G	A	G186117446A	HMCN1	NM_031935.3(HMCN1):c.11684-13G>A	noncoding	Benign
1	186119183	A	C	A186119183C	HMCN1	NM_031935.3(HMCN1):c.11849-8A>C	noncoding	Benign
1	186119280	G	A	G186119280A	HMCN1	NM_031935.3(HMCN1):c.11938G>A:p.Val3980Met	coding	Benign
1	186122944	A	C	A186122944C	HMCN1	NM_031935.3(HMCN1):c.12230-7A>C	noncoding	Benign
1	186122971	C	T	C186122971T	HMCN1	NM_031935.3(HMCN1):c.12250C>T:p.His4084Tyr	coding	Benign
1	186125675	G	A	G186125675A	HMCN1	NM_031935.3(HMCN1):c.12571G>A:p.Val4191Ile	coding	Benign
1	186125734	T	C	T186125734C	HMCN1	NM_031935.3(HMCN1):c.12630T>C:p.Ala4210=	coding	Benign
1	186128158	T	C	T186128158C	HMCN1	NM_031935.3(HMCN1):c.12771T>C:p.His4257=	coding	Benign/Likely_benign
1	186129967	C	T	C186129967T	HMCN1	NM_031935.3(HMCN1):c.12906C>T:p.Ala4302=	coding	Benign
1	186130002	T	C	T186130002C	HMCN1	NM_031935.3(HMCN1):c.12941T>C:p.Val4314Ala	coding	Benign
1	186130048	C	T	C186130048T	HMCN1	NM_031935.3(HMCN1):c.12987C>T:p.Thr4329=	coding	Benign
1	186130504	C	T	C186130504T	HMCN1	NM_031935.3(HMCN1):c.13040-3C>T	noncoding	Benign
1	186130522	A	G	A186130522G	HMCN1	NM_031935.3(HMCN1):c.13055A>G:p.Lys4352Arg	coding	Benign
1	186132407	A	G	A186132407G	HMCN1	NM_031935.3(HMCN1):c.13310A>G:p.Gln4437Arg	coding	Benign
1	186136663	C	T	C186136663T	HMCN1	NM_031935.3(HMCN1):c.13313-5C>T	noncoding	Benign/Likely_benign
1	186136664	G	A	G186136664A	HMCN1	NM_031935.3(HMCN1):c.13313-4G>A	noncoding	Benign
1	186144198	G	C	G186144198C	HMCN1	NM_031935.3(HMCN1):c.13950G>C:p.Gln4650His	coding	Benign
1	186144216	C	T	C186144216T	HMCN1	NM_031935.3(HMCN1):c.13968C>T:p.Ser4656=	coding	Benign
1	186144276	G	A	G186144276A	HMCN1	NM_031935.3(HMCN1):c.14028G>A:p.Ala4676=	coding	Benign
1	186144324	C	T	C186144324T	HMCN1	NM_031935.3(HMCN1):c.14076C>T:p.Cys4692=	coding	Benign/Likely_benign
1	186144595	G	A	G186144595A	HMCN1	NM_031935.3(HMCN1):c.14158G>A:p.Ala4720Thr	coding	Benign
1	186152863	A	T	A186152863T	HMCN1	NM_031935.3(HMCN1):c.15010A>T:p.Thr5004Ser	coding	Benign/Likely_benign
1	186152864	C	T	C186152864T	HMCN1	NM_031935.3(HMCN1):c.15011C>T:p.Thr5004Ile	coding	Benign/Likely_benign
1	186153794	C	T	C186153794T	HMCN1	NM_031935.3(HMCN1):c.15063C>T:p.Tyr5021=	coding	Benign
1	186165114	A	T	A186165114T	HMCN1	NM_031935.3(HMCN1):c.15260A>T:p.Asp5087Val	coding	Benign
1	186166257	C	T	C186166257T	HMCN1	NM_031935.3(HMCN1):c.15393C>T:p.Ser5131=	coding	Benign/Likely_benign
1	186166795	C	T	C186166795T	HMCN1	NM_031935.3(HMCN1):c.15440-13C>T	noncoding	Benign
1	186166899	T	C	T186166899C	HMCN1	NM_031935.3(HMCN1):c.15531T>C:p.Cys5177=	coding	Benign
1	186172049	C	G	C186172049G	HMCN1	NM_031935.3(HMCN1):c.15732C>G:p.His5244Gln	coding	Benign
1	186174521	T	C	T186174521C	HMCN1	NM_031935.3(HMCN1):c.15822T>C:p.Asp5274=	coding	Benign
1	186182191	G	A	G186182191A	HMCN1	NM_031935.3(HMCN1):c.16318G>A:p.Asp5440Asn	coding	Benign
1	186189593	C	G	C186189593G	HMCN1	NM_031935.3(HMCN1):c.16623C>G:p.Leu5541=	coding	Benign/Likely_benign
1	186190552	C	T	C186190552T	HMCN1	NM_031935.3(HMCN1):c.*674C>T	noncoding	Benign
1	186190815	A	G	A186190815G	HMCN1	NM_031935.3(HMCN1):c.*937A>G	noncoding	Benign
1	186304862	C	T	C186304862T	PRG4	NM_005807.5(PRG4):c.538C>T:p.Arg180Trp	coding	Benign
1	186306378	A	C	A186306378C	PRG4	NM_005807.6(PRG4):c.659A>C:p.Asp220Ala	coding	Benign
1	186307456	T	C	T186307456C	PRG4	NM_005807.5(PRG4):c.1737T>C:p.Thr579=	coding	Benign
1	186307711	T	C	T186307711C	PRG4	NM_005807.6(PRG4):c.1992T>C:p.Pro664=	coding	Benign
1	186307934	A	T	A186307934T	PRG4	NM_005807.5(PRG4):c.2215A>T:p.Lys739Ter	coding	Pathogenic
1	186308660	C	T	C186308660T	PRG4	NM_005807.6(PRG4):c.2941C>T:p.Leu981Phe	coding	Benign
1	186308857	A	G	A186308857G	PRG4	NM_005807.5(PRG4):c.3138A>G:p.Pro1046=	coding	Benign
1	186312260	T	C	T186312260C	PRG4	NM_005807.6(PRG4):c.3879T>C:p.Tyr1293=	coding	Benign
1	186312878	C	G	C186312878G	PRG4	NM_003292.3(TPR):c.*1093G>C	coding	Pathogenic
1	186312884	C	A	C186312884A	PRG4	NM_005807.6(PRG4):c.4107C>A:p.Ala1369=	coding	Benign
1	186320378	G	A	G186320378A	TPR	NM_003292.3(TPR):c.6502C>T:p.Pro2168Ser	coding	Benign
1	186341106	C	T	C186341106T	TPR	NM_003292.3(TPR):c.3942G>A:p.Leu1314=	coding	Benign
1	186344065	C	T	C186344065T	TPR	NM_003292.3(TPR):c.3443G>A:p.Arg1148His	coding	Benign
1	186353736	C	T	C186353736T	TPR	NM_003292.3(TPR):c.2286G>A:p.Thr762=	coding	Benign
1	186358641	G	T	G186358641T	TPR	NM_003292.3(TPR):c.1399C>A:p.Arg467=	coding	Benign
1	186444462	A	G	A186444462G	PDC	NM_002597.5(PDC):c.258T>C:p.Asp86=	coding	Benign
1	186674413	G	T	G186674413T	PTGS2	NM_000963.4(PTGS2):c.1755C>A:p.Arg585=	coding	Benign
1	186675946	A	G	A186675946G	PTGS2	NM_000963.4(PTGS2):c.1209T>C:p.His403=	coding	Benign
1	186676537	A	G	A186676537G	PTGS2	NM_000963.4(PTGS2):c.900T>C:p.Asp300=	coding	Benign
1	186678252	C	T	C186678252T	PTGS2	NM_000963.4(PTGS2):c.457+9G>A	noncoding	Benign
1	186894164	T	C	T186894164C	PLA2G4A	NM_024420.2(PLA2G4A):c.331T>C:p.Ser111Pro	coding	Pathogenic
1	186894188	G	A	G186894188A	PLA2G4A	NM_024420.2(PLA2G4A):c.355G>A:p.Glu119Lys	coding	Benign
1	186932874	G	A	G186932874A	PLA2G4A	NM_024420.2(PLA2G4A):c.670G>A:p.Val224Ile	coding	Benign
1	186940072	C	T	C186940072T	PLA2G4A	NM_024420.2(PLA2G4A):c.1011C>T:p.Asp337=	coding	Benign
1	186956145	T	C	T186956145C	PLA2G4A	NM_024420.2(PLA2G4A):c.1380T>C:p.Asn460=	coding	Benign
1	186956219	G	A	G186956219A	PLA2G4A	NM_024420.2(PLA2G4A):c.1454G>A:p.Arg485His	coding	Pathogenic
1	186965552	G	C	G186965552C	PLA2G4A	NM_024420.2(PLA2G4A):c.1723G>C:p.Asp575His	coding	Pathogenic
1	186965587	G	A	G186965587A	PLA2G4A	NM_024420.2(PLA2G4A):c.1758G>A:p.Pro586=	coding	Benign
1	186977590	T	C	T186977590C	PLA2G4A	NM_024420.2(PLA2G4A):c.1765-3T>C	noncoding	Benign
1	186977737	A	G	A186977737G	PLA2G4A	NM_024420.2(PLA2G4A):c.1909A>G:p.Ile637Val	coding	Benign
1	186979316	T	G	T186979316G	PLA2G4A	NM_024420.2(PLA2G4A):c.1962T>G:p.Gly654=	coding	Benign
1	186988505	A	G	A186988505G	PLA2G4A	NM_024420.2(PLA2G4A):c.2247A>G:p.Ala749=	coding	Benign
1	193023840	G	A	G193023840A	UCHL5	NM_001199261.3(UCHL5):c.732+4C>T	noncoding	Benign
1	193076509	G	A	G193076509A	RO60	NM_001173524.2(RO60):c.810G>A:p.Lys270=	coding	Benign
1	193122106	G	A	G193122106A	CDC73	NM_024529.4(CDC73):c.-95G>A	noncoding	Benign/Likely_benign
1	193122191	G	T	G193122191T	CDC73	NM_024529.4(CDC73):c.-10G>T	noncoding	Benign/Likely_benign
1	193122202	T	C	T193122202C	CDC73	NM_024529.4(CDC73):c.2T>C:p.Met1Thr	coding	Pathogenic
1	193122203	G	A	G193122203A	CDC73	NM_024529.4(CDC73):c.3G>A:p.Met1Ile	coding	Pathogenic
1	193122203	G	T	G193122203T	CDC73	NM_024529.4(CDC73):c.3G>T:p.Met1Ile	coding	Pathogenic
1	193122225	C	T	C193122225T	CDC73	NM_024529.4(CDC73):c.25C>T:p.Arg9Ter	coding	Pathogenic
1	193122233	C	T	C193122233T	CDC73	NM_024529.4(CDC73):c.33C>T:p.Tyr11=	coding	Benign/Likely_benign
1	193122264	G	T	G193122264T	CDC73	NM_024529.5(CDC73):c.64G>T:p.Gly22Ter	coding	Pathogenic
1	193122285	G	T	G193122285T	CDC73	NM_024529.4(CDC73):c.85G>T:p.Glu29Ter	coding	Pathogenic
1	193122309	A	T	A193122309T	CDC73	NM_024529.4(CDC73):c.109A>T:p.Lys37Ter	coding	Pathogenic
1	193122328	G	A	G193122328A	CDC73	NM_024529.4(CDC73):c.128G>A:p.Trp43Ter	coding	Pathogenic
1	193122332	G	A	G193122332A	CDC73	NM_024529.4(CDC73):c.131+1G>A	coding	Pathogenic
1	193125137	G	T	G193125137T	CDC73	NM_024529.5(CDC73):c.157G>T:p.Glu53Ter	coding	Pathogenic
1	193125142	C	G	C193125142G	CDC73	NM_024529.4(CDC73):c.162C>G:p.Tyr54Ter	coding	Pathogenic
1	193125171	T	C	T193125171C	CDC73	NM_024529.4(CDC73):c.191T>C:p.Leu64Pro	coding	Pathogenic
1	193125206	C	T	C193125206T	CDC73	NM_024529.4(CDC73):c.226C>T:p.Arg76Ter	coding	Pathogenic
1	193125218	G	A	G193125218A	CDC73	NM_024529.5(CDC73):c.237+1G>A	coding	Pathogenic
1	193125218	G	C	G193125218C	CDC73	NM_024529.4(CDC73):c.237+1G>C	coding	Pathogenic
1	193125218	G	T	G193125218T	CDC73	NM_024529.4(CDC73):c.237+1G>T	coding	Pathogenic
1	193130172	A	T	A193130172T	CDC73	NM_024529.4(CDC73):c.238-2A>T	noncoding	Pathogenic
1	193130173	G	A	G193130173A	CDC73	NM_024529.4(CDC73):c.238-1G>A	noncoding	Pathogenic
1	193130207	C	T	C193130207T	CDC73	NM_024529.5(CDC73):c.271C>T:p.Arg91Ter	coding	Pathogenic
1	193130227	T	G	T193130227G	CDC73	NM_024529.5(CDC73):c.291T>G:p.Tyr97Ter	coding	Pathogenic
1	193135375	C	A	C193135375A	CDC73	NM_024529.4(CDC73):c.308-16C>A	noncoding	Benign
1	193135438	C	T	C193135438T	CDC73	NM_024529.4(CDC73):c.355C>T:p.Gln119Ter	coding	Pathogenic
1	193135441	C	T	C193135441T	CDC73	NM_024529.4(CDC73):c.358C>T:p.Arg120Ter	coding	Pathogenic
1	193135542	C	T	C193135542T	CDC73	NM_024529.4(CDC73):c.376C>T:p.Arg126Ter	coding	Pathogenic
1	193135590	G	A	G193135590A	CDC73	NM_024529.4(CDC73):c.423+1G>A	coding	Pathogenic
1	193138166	C	T	C193138166T	CDC73	NM_024529.4(CDC73):c.505C>T:p.Gln169Ter	coding	Pathogenic
1	193142001	C	T	C193142001T	CDC73	NM_024529.4(CDC73):c.664C>T:p.Arg222Ter	coding	Pathogenic
1	193150348	C	T	C193150348T	CDC73	NM_024529.4(CDC73):c.873C>T:p.Asn291=	coding	Benign/Likely_benign
1	193152164	G	A	G193152164A	CDC73	NM_024529.4(CDC73):c.908-216G>A	noncoding	Benign
1	193212066	T	G	T193212066G	CDC73	NM_024529.4(CDC73):c.1032T>G:p.Val344=	coding	Benign/Likely_benign
1	193233023	A	G	A193233023G	CDC73	NM_024529.4(CDC73):c.1185A>G:p.Gln395=	coding	Benign/Likely_benign
1	193249713	C	G	C193249713G	CDC73	NM_024529.4(CDC73):c.1418-17C>G	noncoding	Benign
1	193251230	A	G	A193251230G	CDC73	NM_024529.4(CDC73):c.*518A>G	noncoding	Benign/Likely_benign
1	193251292	A	T	A193251292T	CDC73	NM_024529.4(CDC73):c.*580A>T	noncoding	Benign/Likely_benign
1	193251795	A	T	A193251795T	CDC73	NM_024529.4(CDC73):c.*1083A>T	noncoding	Benign/Likely_benign
1	193251979	A	G	A193251979G	CDC73	NM_024529.4(CDC73):c.*1267A>G	noncoding	Benign/Likely_benign
1	193252797	G	C	G193252797C	CDC73	NM_024529.4(CDC73):c.*2085G>C	noncoding	Benign/Likely_benign
1	193253016	T	G	T193253016G	CDC73	NM_024529.4(CDC73):c.*2304T>G	noncoding	Benign/Likely_benign
1	193253139	T	C	T193253139C	CDC73	NM_024529.4(CDC73):c.*2427T>C	noncoding	Benign/Likely_benign
1	193253389	G	A	G193253389A	CDC73	NM_024529.4(CDC73):c.*2677G>A	noncoding	Benign/Likely_benign
1	193253662	A	G	A193253662G	CDC73	NM_024529.4(CDC73):c.*2950A>G	noncoding	Benign
1	193253775	G	A	G193253775A	CDC73	NM_024529.5(CDC73):c.*3063G>A	noncoding	Benign/Likely_benign
1	193254219	G	T	G193254219T	CDC73	NM_024529.4(CDC73):c.*3507G>T	noncoding	Benign
1	193254236	A	G	A193254236G	CDC73	NM_024529.4(CDC73):c.*3524A>G	noncoding	Benign/Likely_benign
1	193254498	T	A	T193254498A	CDC73	NM_024529.4(CDC73):c.*3786T>A	noncoding	Benign
1	193254498	T	C	T193254498C	CDC73	NM_024529.4(CDC73):c.*3786T>C	noncoding	Benign/Likely_benign
1	196429676	A	T	A196429676T	KCNT2	NM_198503.5(KCNT2):c.720T>A:p.Phe240Leu	coding	Pathogenic
1	196651923	T	C	T196651923C	CFH	NM_000186.3(CFH):c.-195T>C	noncoding	Benign
1	196651994	G	T	G196651994T	CFH	NM_000186.3(CFH):c.-124G>T	noncoding	Benign/Likely_benign
1	196652082	G	C	G196652082C	CFH	NM_000186.3(CFH):c.-36G>C	noncoding	Benign/Likely_benign
1	196673103	G	A	G196673103A	CFH	NM_000186.3(CFH):c.184G>A:p.Val62Ile	coding	Benign
1	196673850	G	A	G196673850A	CFH	NM_000186.3(CFH):c.245-7G>A	noncoding	Benign/Likely_benign
1	196673968	T	G	T196673968G	CFH	NM_000186.3(CFH):c.350+6T>G	noncoding	Pathogenic
1	196673971	T	C	T196673971C	CFH	NM_000186.3(CFH):c.350+9T>C	noncoding	Benign/Likely_benign
1	196676018	G	T	G196676018T	CFH	NM_000186.3(CFH):c.380G>T:p.Arg127Leu	coding	Pathogenic
1	196677462	T	C	T196677462C	CFH	NM_000186.3(CFH):c.428-14T>C	noncoding	Benign/Likely_benign
1	196677525	T	C	T196677525C	CFH	NM_000186.3(CFH):c.477T>C:p.Ser159=	coding	Benign
1	196677613	G	T	G196677613T	CFH	NM_000186.3(CFH):c.565G>T:p.Glu189Ter	coding	Pathogenic
1	196685194	A	C	A196685194C	CFH	NM_000186.3(CFH):c.921A>C:p.Ala307=	coding	Benign
1	196689581	C	T	C196689581T	CFH	NM_000186.3(CFH):c.1126C>T:p.Gln376Ter	coding	Pathogenic
1	196690048	T	C	T196690048C	CFH	NM_000186.3(CFH):c.1160-15T>C	noncoding	Benign
1	196690107	C	T	C196690107T	CFH	NM_000186.3(CFH):c.1204C>T:p.His402Tyr	coding	Benign
1	196690125	C	T	C196690125T	CFH	NM_000186.3(CFH):c.1222C>T:p.Gln408Ter	coding	Pathogenic
1	196690194	T	A	T196690194A	CFH	NM_000186.3(CFH):c.1291T>A:p.Cys431Ser	coding	Pathogenic
1	196713817	G	A	G196713817A	CFH	NM_000186.3(CFH):c.1419G>A:p.Ala473=	coding	Benign
1	196713826	A	G	A196713826G	CFH	NM_000186.3(CFH):c.1428A>G:p.Gln476=	coding	Benign
1	196715679	T	C	T196715679C	CFH	NM_000186.3(CFH):c.1606T>C:p.Cys536Arg	coding	Pathogenic
1	196715725	T	C	T196715725C	CFH	NM_000186.3(CFH):c.1652T>C:p.Ile551Thr	coding	Benign
1	196725131	C	T	C196725131T	CFH	NM_000186.4(CFH):c.1707C>T:p.Cys569=	coding	Benign
1	196726531	G	T	G196726531T	CFH	NM_000186.3(CFH):c.1935G>T:p.Thr645=	coding	Benign/Likely_benign
1	196726612	A	G	A196726612G	CFH	NM_000186.3(CFH):c.2016A>G:p.Gln672=	coding	Benign
1	196726948	T	A	T196726948A	CFH	NM_000186.3(CFH):c.2236+8T>A	noncoding	Benign
1	196736919	G	A	G196736919A	CFH	NM_000186.3(CFH):c.2509G>A:p.Val837Ile	coding	Benign/Likely_benign
1	196737512	C	T	C196737512T	CFH	NM_000186.3(CFH):c.2634C>T:p.His878=	coding	Benign/Likely_benign
1	196737515	A	G	A196737515G	CFH	NM_000186.3(CFH):c.2637A>G:p.Gly879=	coding	Benign/Likely_benign
1	196737547	G	T	G196737547T	CFH	NM_000186.3(CFH):c.2669G>T:p.Ser890Ile	coding	Benign
1	196740644	G	T	G196740644T	CFH	NM_000186.3(CFH):c.2808G>T:p.Glu936Asp	coding	Benign
1	196740686	G	T	G196740686T	CFH	NM_000186.3(CFH):c.2850G>T:p.Gln950His	coding	Benign/Likely_benign
1	196740712	G	A	G196740712A	CFH	NM_000186.3(CFH):c.2876G>A:p.Cys959Tyr	coding	Pathogenic
1	196740786	T	C	T196740786C	CFH	NM_000186.3(CFH):c.2950T>C:p.Cys984Arg	coding	Pathogenic
1	196741937	G	T	G196741937T	CFH	NM_000186.3(CFH):c.3019G>T:p.Val1007Leu	coding	Benign
1	196741968	C	T	C196741968T	CFH	NM_000186.3(CFH):c.3050C>T:p.Thr1017Ile	coding	Benign/Likely_benign
1	196742020	T	C	T196742020C	CFH	NM_000186.3(CFH):c.3102T>C:p.Asn1034=	coding	Benign/Likely_benign
1	196742059	G	T	G196742059T	CFH	NM_000186.3(CFH):c.3133+8G>T	noncoding	Benign/Likely_benign
1	196743450	A	G	A196743450G	CFH	NM_000186.4(CFH):c.3134-2A>G	noncoding	Pathogenic
1	196743456	C	T	C196743456T	CFH	NM_000186.3(CFH):c.3138C>T:p.Thr1046=	coding	Benign
1	196743494	T	C	T196743494C	CFH	NM_000186.3(CFH):c.3176T>C:p.Ile1059Thr	coding	Benign
1	196743496	G	C	G196743496C	CFH	NM_000186.3(CFH):c.3178G>C:p.Val1060Leu	coding	Benign/Likely_benign
1	196743525	T	C	T196743525C	CFH	NM_000186.3(CFH):c.3207T>C:p.Ser1069=	coding	Benign/Likely_benign
1	196743552	G	T	G196743552T	CFH	NM_000186.3(CFH):c.3234G>T:p.Arg1078Ser	coding	Pathogenic
1	196745933	C	G	C196745933G	CFH	NM_000186.3(CFH):c.3427C>G:p.Gln1143Glu	coding	Benign
1	196747207	T	C	T196747207C	CFH	NM_000186.3(CFH):c.3590T>C:p.Val1197Ala	coding	Pathogenic
1	196747411	C	T	C196747411T	CFH	NM_000186.3(CFH):c.*98C>T	noncoding	Benign
1	196747491	T	A	T196747491A	CFH	NM_000186.3(CFH):c.*178T>A	noncoding	Benign
1	196774896	C	T	C196774896T	CFHR3	NM_021023.6(CFHR3):c.10C>T:p.Leu4=	coding	Benign
1	196774939	G	C	G196774939C	CFHR3	NM_021023.6(CFHR3):c.53G>C:p.Gly18Ala	coding	Benign
1	196779204	T	G	T196779204G	CFHR3	NM_021023.6(CFHR3):c.101T>G:p.Phe34Cys	coding	Benign
1	196779842	A	G	A196779842G	CFHR3	NM_021023.6(CFHR3):c.299A>G:p.Tyr100Cys	coding	Benign
1	196779897	C	T	C196779897T	CFHR3	NM_021023.6(CFHR3):c.354C>T:p.Tyr118=	coding	Benign
1	196779967	C	T	C196779967T	CFHR3	NM_021023.6(CFHR3):c.424C>T:p.Arg142Cys	coding	Benign
1	196788400	T	C	T196788400C	CFHR3	NM_021023.6(CFHR3):c.613+2T>C	noncoding	Benign
1	196790151	G	C	G196790151C	CFHR3	NM_021023.6(CFHR3):c.720G>C:p.Gln240His	coding	Benign
1	196790152	C	T	C196790152T	CFHR3	NM_021023.6(CFHR3):c.721C>T:p.Pro241Ser	coding	Benign
1	196790217	A	T	A196790217T	CFHR3	NM_021023.6(CFHR3):c.786A>T:p.Pro262=	coding	Benign
1	196793454	A	T	A196793454T	CFHR3	NM_021023.6(CFHR3):c.934A>T:p.Ile312Phe	coding	Benign
1	196793478	C	A	C196793478A	CFHR3	NM_021023.6(CFHR3):c.958C>A:p.Arg320=	coding	Benign
1	196902587	T	C	T196902587C	CFHR4	NM_001201550.3(CFHR4):c.228T>C:p.Asp76=	coding	Benign
1	196914549	G	A	G196914549A	CFHR4	NM_001201550.3(CFHR4):c.1235G>A:p.Arg412Gln	coding	Benign
1	196915128	A	T	A196915128T	CFHR4	NM_001201550.3(CFHR4):c.1530A>T:p.Pro510=	coding	Benign
1	196950923	A	G	A196950923G	CFHR2	NM_005666.4(CFHR2):c.325A>G:p.Thr109Ala	coding	Benign
1	196950993	G	A	G196950993A	CFHR2	NM_005666.4(CFHR2):c.395G>A:p.Arg132Gln	coding	Benign
1	196951035	G	A	G196951035A	CFHR2	NM_005666.4(CFHR2):c.430+7G>A	noncoding	Benign
1	196958055	G	T	G196958055T	CFHR2	NM_005666.4(CFHR2):c.595G>T:p.Glu199Ter	coding	Benign
1	196982962	C	T	C196982962T	CFHR5	NM_030787.4(CFHR5):c.136C>T:p.Pro46Ser	coding	Benign/Likely_benign
1	196983069	G	A	G196983069A	CFHR5	NM_030787.3(CFHR5):c.243G>A:p.Pro81=	coding	Benign/Likely_benign
1	196983953	T	G	T196983953G	CFHR5	NM_030787.3(CFHR5):c.254-8T>G	noncoding	Benign
1	196983956	C	T	C196983956T	CFHR5	NM_030787.3(CFHR5):c.254-5C>T	noncoding	Benign/Likely_benign
1	196984036	T	C	T196984036C	CFHR5	NM_030787.3(CFHR5):c.329T>C:p.Val110Ala	coding	Benign
1	196984037	A	C	A196984037C	CFHR5	NM_030787.3(CFHR5):c.330A>C:p.Val110=	coding	Benign
1	196984091	G	T	G196984091T	CFHR5	NM_030787.3(CFHR5):c.384G>T:p.Ser128=	coding	Benign/Likely_benign
1	196984136	T	C	T196984136C	CFHR5	NM_030787.3(CFHR5):c.429T>C:p.Thr143=	coding	Benign
1	196994083	G	A	G196994083A	CFHR5	NM_030787.3(CFHR5):c.434G>A:p.Gly145Glu	coding	Benign
1	196994156	C	T	C196994156T	CFHR5	NM_030787.3(CFHR5):c.507C>T:p.Asp169=	coding	Benign
1	196994157	G	A	G196994157A	CFHR5	NM_030787.4(CFHR5):c.508G>A:p.Val170Met	coding	Benign
1	196995841	C	T	C196995841T	CFHR5	NM_030787.4(CFHR5):c.732C>T:p.Asn244=	coding	Benign/Likely_benign
1	196996063	G	A	G196996063A	CFHR5	NM_030787.3(CFHR5):c.832G>A:p.Gly278Ser	coding	Benign
1	196996203	T	G	T196996203G	CFHR5	NM_030787.4(CFHR5):c.970+2T>G	noncoding	Benign/Likely_benign
1	196998273	C	T	C196998273T	CFHR5	NM_030787.4(CFHR5):c.1116C>T:p.Asn372=	coding	Benign
1	197002489	G	T	G197002489T	CFHR5	NM_030787.4(CFHR5):c.1155G>T:p.Arg385Ser	coding	Benign/Likely_benign
1	197008559	T	G	T197008559G	CFHR5	NM_030787.3(CFHR5):c.1586T>G:p.Leu529Arg	coding	Benign
1	197008677	T	A	T197008677A	CFHR5	NM_030787.4(CFHR5):c.1704T>A:p.Cys568Ter	coding	Benign
1	197009080	C	G	C197009080G	CFHR5	NM_030787.3(CFHR5):c.*397C>G	noncoding	Benign
1	197009424	T	G	T197009424G	CFHR5	NM_030787.3(CFHR5):c.*741T>G	noncoding	Benign
1	197009485	T	G	T197009485G	CFHR5	NM_030787.3(CFHR5):c.*802T>G	noncoding	Benign
1	197039235	C	T	C197039235T	F13B	NM_001994.2(F13B):c.*143G>A	noncoding	Benign
1	197040668	A	G	A197040668G	F13B	NM_001994.2(F13B):c.1806T>C:p.Asn602=	coding	Benign
1	197050728	A	C	A197050728C	F13B	NM_001994.2(F13B):c.1707T>G:p.Asp569Glu	coding	Benign/Likely_benign
1	197055720	C	A	C197055720A	F13B	NM_001994.2(F13B):c.1349G>T:p.Cys450Phe	coding	Pathogenic
1	197061071	T	C	T197061071C	F13B	NM_001994.2(F13B):c.456A>G:p.Thr152=	coding	Benign
1	197061891	C	T	C197061891T	F13B	NM_001994.2(F13B):c.344G>A:p.Arg115His	coding	Benign
1	197084243	G	A	G197084243A	ASPM	NM_018136.5(ASPM):c.*81C>T	noncoding	Benign
1	197084264	G	A	G197084264A	ASPM	NM_018136.5(ASPM):c.*60C>T	noncoding	Benign/Likely_benign
1	197086652	T	C	T197086652C	ASPM	NM_018136.5(ASPM):c.10331+151A>G	noncoding	Benign
1	197086795	T	C	T197086795C	ASPM	NM_018136.5(ASPM):c.10331+8A>G	noncoding	Benign
1	197086966	G	A	G197086966A	ASPM	NM_018136.5(ASPM):c.10168C>T:p.Arg3390Ter	coding	Pathogenic
1	197086979	A	T	A197086979T	ASPM	NM_018136.5(ASPM):c.10162-7T>A	noncoding	Benign
1	197088357	G	A	G197088357A	ASPM	NM_018136.5(ASPM):c.10060C>T:p.Arg3354Ter	coding	Pathogenic
1	197088358	G	T	G197088358T	ASPM	NM_018136.5(ASPM):c.10059C>A:p.Tyr3353Ter	coding	Pathogenic
1	197088421	A	G	A197088421G	ASPM	NM_018136.5(ASPM):c.9996T>C:p.Thr3332=	coding	Benign/Likely_benign
1	197089929	C	A	C197089929A	ASPM	NM_018136.5(ASPM):c.9984+1G>T	noncoding	Pathogenic
1	197089953	G	A	G197089953A	ASPM	NM_018136.5(ASPM):c.9961C>T:p.Gln3321Ter	coding	Pathogenic
1	197090004	G	A	G197090004A	ASPM	NM_018136.5(ASPM):c.9910C>T:p.Arg3304Ter	coding	Pathogenic
1	197090073	T	A	T197090073A	ASPM	NM_018136.5(ASPM):c.9841A>T:p.Arg3281Ter	coding	Pathogenic
1	197090236	A	T	A197090236T	ASPM	NM_018136.5(ASPM):c.9789T>A:p.Tyr3263Ter	coding	Pathogenic
1	197090252	T	C	T197090252C	ASPM	NM_018136.5(ASPM):c.9773A>G:p.His3258Arg	coding	Benign/Likely_benign
1	197090295	G	A	G197090295A	ASPM	NM_018136.5(ASPM):c.9730C>T:p.Arg3244Ter	coding	Pathogenic
1	197090328	G	A	G197090328A	ASPM	NM_018136.5(ASPM):c.9697C>T:p.Arg3233Ter	coding	Pathogenic
1	197090734	C	T	C197090734T	ASPM	NM_018136.5(ASPM):c.9636+116G>A	noncoding	Benign
1	197090748	G	A	G197090748A	ASPM	NM_018136.5(ASPM):c.9636+102C>T	noncoding	Benign
1	197090762	A	G	A197090762G	ASPM	NM_018136.5(ASPM):c.9636+88T>C	noncoding	Benign
1	197090798	A	G	A197090798G	ASPM	NM_018136.5(ASPM):c.9636+52T>C	noncoding	Benign
1	197090891	T	A	T197090891A	ASPM	NM_018136.5(ASPM):c.9595A>T:p.Lys3199Ter	coding	Pathogenic
1	197090929	G	C	G197090929C	ASPM	NM_018136.5(ASPM):c.9557C>G:p.Ser3186Ter	coding	Pathogenic
1	197090994	A	C	A197090994C	ASPM	NM_018136.5(ASPM):c.9492T>G:p.Tyr3164Ter	coding	Pathogenic
1	197090994	A	G	A197090994G	ASPM	NM_018136.5(ASPM):c.9492T>C:p.Tyr3164=	coding	Benign/Likely_benign
1	197091032	G	A	G197091032A	ASPM	NM_018136.5(ASPM):c.9454C>T:p.Arg3152Ter	coding	Pathogenic
1	197091653	A	T	A197091653T	ASPM	NM_018136.5(ASPM):c.9444+254T>A	noncoding	Benign
1	197091899	A	C	A197091899C	ASPM	NM_018136.5(ASPM):c.9444+8T>G	noncoding	Benign/Likely_benign
1	197091956	A	C	A197091956C	ASPM	NM_018136.5(ASPM):c.9395T>G:p.Leu3132Arg	coding	Benign
1	197092032	G	A	G197092032A	ASPM	NM_018136.5(ASPM):c.9319C>T:p.Arg3107Ter	coding	Pathogenic
1	197093108	T	A	T197093108A	ASPM	NM_018136.5(ASPM):c.9238A>T:p.Lys3080Ter	coding	Pathogenic/Likely_pathogenic
1	197093156	G	A	G197093156A	ASPM	NM_018136.5(ASPM):c.9190C>T:p.Arg3064Ter	coding	Pathogenic
1	197093168	G	A	G197093168A	ASPM	NM_018136.5(ASPM):c.9178C>T:p.Gln3060Ter	coding	Pathogenic
1	197093242	A	T	A197093242T	ASPM	NM_018136.5(ASPM):c.9104T>A:p.Leu3035Ter	coding	Pathogenic
1	197093255	G	A	G197093255A	ASPM	NM_018136.5(ASPM):c.9091C>T:p.Arg3031Ter	coding	Pathogenic
1	197094181	C	G	C197094181G	ASPM	NM_018136.5(ASPM):c.8988-1G>C	coding	Pathogenic
1	197094222	C	T	C197094222T	ASPM	NM_018136.5(ASPM):c.8988-42G>A	noncoding	Benign
1	197095696	A	G	A197095696G	ASPM	NM_018136.5(ASPM):c.8987+302T>C	noncoding	Benign
1	197095997	C	T	C197095997T	ASPM	NM_018136.5(ASPM):c.8987+1G>A	noncoding	Pathogenic
1	197096082	C	T	C197096082T	ASPM	NM_018136.5(ASPM):c.8903G>A:p.Trp2968Ter	coding	Pathogenic
1	197096156	C	T	C197096156T	ASPM	NM_018136.5(ASPM):c.8829G>A:p.Trp2943Ter	coding	Pathogenic
1	197100424	G	C	G197100424C	ASPM	NM_018136.5(ASPM):c.8820+7C>G	noncoding	Benign
1	197100547	G	A	G197100547A	ASPM	NM_018136.5(ASPM):c.8704C>T:p.Gln2902Ter	coding	Pathogenic
1	197100583	G	A	G197100583A	ASPM	NM_018136.5(ASPM):c.8668C>T:p.Gln2890Ter	coding	Pathogenic
1	197100978	A	T	A197100978T	ASPM	NM_018136.5(ASPM):c.8273T>A:p.Leu2758Ter	coding	Pathogenic
1	197100985	G	A	G197100985A	ASPM	NM_018136.5(ASPM):c.8266C>T:p.Gln2756Ter	coding	Pathogenic
1	197101085	A	G	A197101085G	ASPM	NM_018136.5(ASPM):c.8166T>C:p.Tyr2722=	coding	Benign/Likely_benign
1	197101127	A	C	A197101127C	ASPM	NM_018136.5(ASPM):c.8124T>G:p.Tyr2708Ter	coding	Pathogenic
1	197101234	G	A	G197101234A	ASPM	NM_018136.5(ASPM):c.8017C>T:p.Gln2673Ter	coding	Pathogenic
1	197101312	G	T	G197101312T	ASPM	NM_018136.5(ASPM):c.7939C>A:p.Leu2647Ile	coding	Benign
1	197101334	T	C	T197101334C	ASPM	NM_018136.5(ASPM):c.7917A>G:p.Lys2639=	coding	Benign/Likely_benign
1	197101357	G	A	G197101357A	ASPM	NM_018136.5(ASPM):c.7894C>T:p.Gln2632Ter	coding	Pathogenic
1	197101391	C	G	C197101391G	ASPM	NM_018136.5(ASPM):c.7860G>C:p.Gln2620His	coding	Benign
1	197101426	G	A	G197101426A	ASPM	NM_018136.5(ASPM):c.7825C>T:p.Gln2609Ter	coding	Pathogenic
1	197101464	A	G	A197101464G	ASPM	NM_018136.5(ASPM):c.7787T>C:p.Val2596Ala	coding	Benign/Likely_benign
1	197101490	A	C	A197101490C	ASPM	NM_018136.5(ASPM):c.7761T>G:p.Tyr2587Ter	coding	Pathogenic
1	197101567	T	C	T197101567C	ASPM	NM_018136.5(ASPM):c.7684A>G:p.Ser2562Gly	coding	Benign
1	197101577	G	A	G197101577A	ASPM	NM_018136.5(ASPM):c.7674C>T:p.Ile2558=	coding	Benign
1	197101577	G	T	G197101577T	ASPM	NM_018136.5(ASPM):c.7674C>A:p.Ile2558=	coding	Benign/Likely_benign
1	197101639	G	A	G197101639A	ASPM	NM_018136.5(ASPM):c.7612C>T:p.Gln2538Ter	coding	Pathogenic
1	197101646	C	T	C197101646T	ASPM	NM_018136.5(ASPM):c.7605G>A:p.Val2535=	coding	Benign
1	197101675	T	C	T197101675C	ASPM	NM_018136.5(ASPM):c.7576A>G:p.Asn2526Asp	coding	Benign
1	197101685	T	C	T197101685C	ASPM	NM_018136.5(ASPM):c.7566A>G:p.Leu2522=	coding	Benign
1	197101686	A	C	A197101686C	ASPM	NM_018136.5(ASPM):c.7565T>G:p.Leu2522Ter	coding	Benign
1	197101771	A	G	A197101771G	ASPM	NM_018136.5(ASPM):c.7480T>C:p.Tyr2494His	coding	Benign
1	197101790	A	T	A197101790T	ASPM	NM_018136.5(ASPM):c.7461T>A:p.Ile2487=	coding	Benign
1	197101898	C	T	C197101898T	ASPM	NM_018136.5(ASPM):c.7353G>A:p.Leu2451=	coding	Benign/Likely_benign
1	197101927	G	A	G197101927A	ASPM	NM_018136.5(ASPM):c.7324C>T:p.Arg2442Ter	coding	Pathogenic
1	197102228	G	A	G197102228A	ASPM	NM_018136.5(ASPM):c.7023C>T:p.Ile2341=	coding	Benign/Likely_benign
1	197102254	C	A	C197102254A	ASPM	NM_018136.5(ASPM):c.6997G>T:p.Glu2333Ter	coding	Pathogenic
1	197102476	A	G	A197102476G	ASPM	NM_018136.5(ASPM):c.6775T>C:p.Leu2259=	coding	Benign/Likely_benign
1	197102524	C	A	C197102524A	ASPM	NM_018136.5(ASPM):c.6727G>T:p.Val2243Leu	coding	Benign/Likely_benign
1	197102627	G	T	G197102627T	ASPM	NM_018136.5(ASPM):c.6624C>A:p.Tyr2208Ter	coding	Pathogenic
1	197102683	G	A	G197102683A	ASPM	NM_018136.5(ASPM):c.6568C>T:p.Gln2190Ter	coding	Pathogenic
1	197103019	G	A	G197103019A	ASPM	NM_018136.5(ASPM):c.6232C>T:p.Arg2078Ter	coding	Pathogenic
1	197103062	A	C	A197103062C	ASPM	NM_018136.5(ASPM):c.6189T>G:p.Tyr2063Ter	coding	Pathogenic
1	197103169	G	A	G197103169A	ASPM	NM_018136.5(ASPM):c.6082C>T:p.Gln2028Ter	coding	Pathogenic
1	197103290	T	C	T197103290C	ASPM	NM_018136.5(ASPM):c.5961A>G:p.Gln1987=	coding	Benign
1	197103430	A	G	A197103430G	ASPM	NM_018136.5(ASPM):c.5821T>C:p.Cys1941Arg	coding	Benign
1	197103510	T	C	T197103510C	ASPM	NM_018136.5(ASPM):c.5741A>G:p.Gln1914Arg	coding	Benign/Likely_benign
1	197103622	C	A	C197103622A	ASPM	NM_018136.5(ASPM):c.5629G>T:p.Ala1877Ser	coding	Benign
1	197103622	C	T	C197103622T	ASPM	NM_018136.5(ASPM):c.5629G>A:p.Ala1877Thr	coding	Benign/Likely_benign
1	197103667	T	C	T197103667C	ASPM	NM_018136.5(ASPM):c.5584A>G:p.Lys1862Glu	coding	Benign/Likely_benign
1	197103672	G	A	G197103672A	ASPM	NM_018136.5(ASPM):c.5579C>T:p.Ala1860Val	coding	Benign
1	197103784	G	A	G197103784A	ASPM	NM_018136.5(ASPM):c.5467C>T:p.Gln1823Ter	coding	Pathogenic
1	197104018	G	A	G197104018A	ASPM	NM_018136.5(ASPM):c.5233C>T:p.Arg1745Ter	coding	Pathogenic
1	197104045	G	C	G197104045C	ASPM	NM_018136.5(ASPM):c.5206C>G:p.Gln1736Glu	coding	Benign
1	197104055	A	T	A197104055T	ASPM	NM_018136.5(ASPM):c.5196T>A:p.Cys1732Ter	coding	Pathogenic
1	197104066	G	A	G197104066A	ASPM	NM_018136.5(ASPM):c.5185C>T:p.Arg1729Trp	coding	Benign/Likely_benign
1	197104115	G	T	G197104115T	ASPM	NM_018136.5(ASPM):c.5136C>A:p.Tyr1712Ter	coding	Pathogenic
1	197104168	G	A	G197104168A	ASPM	NM_018136.5(ASPM):c.5083C>T:p.Arg1695Cys	coding	Benign
1	197104188	G	A	G197104188A	ASPM	NM_018136.5(ASPM):c.5063C>T:p.Thr1688Ile	coding	Benign
1	197104456	G	A	G197104456A	ASPM	NM_018136.5(ASPM):c.4795C>T:p.Arg1599Ter	coding	Pathogenic
1	197104519	G	A	G197104519A	ASPM	NM_018136.5(ASPM):c.4732C>T:p.Arg1578Ter	coding	Pathogenic
1	197104802	T	C	T197104802C	ASPM	NM_018136.5(ASPM):c.4449A>G:p.Lys1483=	coding	Benign
1	197104829	C	T	C197104829T	ASPM	NM_018136.5(ASPM):c.4422G>A:p.Trp1474Ter	coding	Pathogenic
1	197104888	C	A	C197104888A	ASPM	NM_018136.5(ASPM):c.4363G>T:p.Glu1455Ter	coding	Pathogenic
1	197105177	C	T	C197105177T	ASPM	NM_018136.5(ASPM):c.4074G>A:p.Trp1358Ter	coding	Pathogenic
1	197117539	C	T	C197117539T	ASPM	NM_018136.5(ASPM):c.4065+250G>A	noncoding	Benign
1	197117876	C	T	C197117876T	ASPM	NM_018136.5(ASPM):c.3978G>A:p.Trp1326Ter	coding	Pathogenic
1	197117894	G	A	G197117894A	ASPM	NM_018136.5(ASPM):c.3960C>T:p.Leu1320=	coding	Benign/Likely_benign
1	197117942	G	T	G197117942T	ASPM	NM_018136.5(ASPM):c.3912C>A:p.Ile1304=	coding	Benign
1	197121955	C	T	C197121955T	ASPM	NM_018136.5(ASPM):c.3830G>A:p.Trp1277Ter	coding	Pathogenic
1	197121974	G	A	G197121974A	ASPM	NM_018136.5(ASPM):c.3811C>T:p.Arg1271Ter	coding	Pathogenic
1	197121989	C	A	C197121989A	ASPM	NM_018136.5(ASPM):c.3796G>T:p.Glu1266Ter	coding	Pathogenic
1	197121994	C	T	C197121994T	ASPM	NM_018136.5(ASPM):c.3791G>A:p.Arg1264His	coding	Benign/Likely_benign
1	197122053	A	C	A197122053C	ASPM	NM_018136.5(ASPM):c.3742-10T>G	noncoding	Benign/Likely_benign
1	197122156	T	C	T197122156C	ASPM	NM_018136.5(ASPM):c.3741+3A>G	noncoding	Benign/Likely_benign
1	197122158	C	G	C197122158G	ASPM	NM_018136.5(ASPM):c.3741+1G>C	noncoding	Pathogenic
1	197122158	C	T	C197122158T	ASPM	NM_018136.5(ASPM):c.3741+1G>A	noncoding	Pathogenic
1	197122186	A	G	A197122186G	ASPM	NM_018136.5(ASPM):c.3714T>C:p.Asp1238=	coding	Benign
1	197122190	G	C	G197122190C	ASPM	NM_018136.5(ASPM):c.3710C>G:p.Ser1237Ter	coding	Pathogenic
1	197122407	A	T	A197122407T	ASPM	NM_018136.5(ASPM):c.3579T>A:p.Ser1193=	coding	Benign
1	197122459	G	C	G197122459C	ASPM	NM_018136.5(ASPM):c.3527C>G:p.Ser1176Ter	coding	Pathogenic
1	197122609	C	A	C197122609A	ASPM	NM_018136.5(ASPM):c.3391-14G>T	noncoding	Benign
1	197122678	T	C	T197122678C	ASPM	NM_018136.5(ASPM):c.3391-83A>G	noncoding	Benign
1	197123968	A	T	A197123968T	ASPM	NM_018136.5(ASPM):c.3390+142T>A	noncoding	Benign
1	197124173	A	C	A197124173C	ASPM	NM_018136.5(ASPM):c.3327T>G:p.Tyr1109Ter	coding	Pathogenic
1	197124231	G	A	G197124231A	ASPM	NM_018136.5(ASPM):c.3269C>T:p.Ser1090Phe	coding	Benign
1	197124271	T	A	T197124271A	ASPM	NM_018136.5(ASPM):c.3229A>T:p.Lys1077Ter	coding	Pathogenic
1	197124312	A	C	A197124312C	ASPM	NM_018136.5(ASPM):c.3188T>G:p.Leu1063Ter	coding	Pathogenic
1	197124900	C	T	C197124900T	ASPM	NM_018136.5(ASPM):c.3138G>A:p.Arg1046=	coding	Benign
1	197125045	C	G	C197125045G	ASPM	NM_018136.5(ASPM):c.3082+1G>C	noncoding	Pathogenic/Likely_pathogenic
1	197125046	C	T	C197125046T	ASPM	NM_018136.5(ASPM):c.3082G>A:p.Gly1028Arg	coding	Pathogenic
1	197125073	G	A	G197125073A	ASPM	NM_018136.5(ASPM):c.3055C>T:p.Arg1019Ter	coding	Pathogenic
1	197125161	C	T	C197125161T	ASPM	NM_018136.5(ASPM):c.2967G>A:p.Trp989Ter	coding	Pathogenic
1	197125190	G	A	G197125190A	ASPM	NM_018136.5(ASPM):c.2938C>T:p.Arg980Ter	coding	Pathogenic
1	197128485	C	A	C197128485A	ASPM	NM_018136.5(ASPM):c.2936+5G>T	noncoding	Pathogenic
1	197128504	A	T	A197128504T	ASPM	NM_018136.5(ASPM):c.2922T>A:p.Cys974Ter	coding	Pathogenic
1	197128563	G	A	G197128563A	ASPM	NM_018136.5(ASPM):c.2863C>T:p.Gln955Ter	coding	Pathogenic
1	197128621	A	G	A197128621G	ASPM	NM_018136.5(ASPM):c.2805T>C:p.Ser935=	coding	Benign
1	197128635	G	A	G197128635A	ASPM	NM_018136.5(ASPM):c.2791C>T:p.Arg931Ter	coding	Pathogenic
1	197128647	A	G	A197128647G	ASPM	NM_018136.5(ASPM):c.2779T>C:p.Leu927=	coding	Benign
1	197128656	C	A	C197128656A	ASPM	NM_018136.5(ASPM):c.2770G>T:p.Glu924Ter	coding	Pathogenic
1	197128690	T	C	T197128690C	ASPM	NM_018136.5(ASPM):c.2761-25A>G	noncoding	Pathogenic
1	197129013	G	C	G197129013C	ASPM	NM_018136.5(ASPM):c.2760+174C>G	noncoding	Benign
1	197129196	G	A	G197129196A	ASPM	NM_018136.5(ASPM):c.2751C>T:p.Ala917=	coding	Benign/Likely_benign
1	197129938	G	A	G197129938A	ASPM	NM_018136.5(ASPM):c.2606C>T:p.Thr869Ile	coding	Benign
1	197130057	C	G	C197130057G	ASPM	NM_018136.5(ASPM):c.2488-1G>C	coding	Pathogenic
1	197130355	A	G	A197130355G	ASPM	NM_018136.5(ASPM):c.2488-299T>C	noncoding	Benign
1	197132173	C	A	C197132173A	ASPM	NM_018136.5(ASPM):c.2487+112G>T	noncoding	Benign
1	197132491	T	C	T197132491C	ASPM	NM_018136.5(ASPM):c.2420-139A>G	noncoding	Benign
1	197133146	G	A	G197133146A	ASPM	NM_018136.5(ASPM):c.2419+204C>T	noncoding	Benign
1	197133338	C	T	C197133338T	ASPM	NM_018136.5(ASPM):c.2419+12G>A	noncoding	Benign/Likely_benign
1	197133348	A	G	A197133348G	ASPM	NM_018136.5(ASPM):c.2419+2T>C	noncoding	Pathogenic
1	197133360	C	T	C197133360T	ASPM	NM_018136.5(ASPM):c.2409G>A:p.Trp803Ter	coding	Pathogenic
1	197133380	G	A	G197133380A	ASPM	NM_018136.5(ASPM):c.2389C>T:p.Arg797Ter	coding	Pathogenic
1	197133462	T	C	T197133462C	ASPM	NM_018136.5(ASPM):c.2307A>G:p.Ala769=	coding	Benign
1	197133502	T	C	T197133502C	ASPM	NM_018136.5(ASPM):c.2267A>G:p.Tyr756Cys	coding	Benign/Likely_benign
1	197133551	T	A	T197133551A	ASPM	NM_018136.5(ASPM):c.2218A>T:p.Ile740Leu	coding	Benign
1	197133574	A	G	A197133574G	ASPM	NM_018136.5(ASPM):c.2195T>C:p.Leu732Ser	coding	Benign
1	197133615	A	G	A197133615G	ASPM	NM_018136.5(ASPM):c.2174-20T>C	noncoding	Benign
1	197133709	A	C	A197133709C	ASPM	NM_018136.5(ASPM):c.2174-114T>G	noncoding	Benign
1	197133796	C	T	C197133796T	ASPM	NM_018136.5(ASPM):c.2174-201G>A	noncoding	Benign
1	197134845	G	A	G197134845A	ASPM	NM_018136.5(ASPM):c.2173+251C>T	noncoding	Benign
1	197135184	C	T	C197135184T	ASPM	NM_018136.5(ASPM):c.2085G>A:p.Trp695Ter	coding	Pathogenic
1	197139803	G	A	G197139803A	ASPM	NM_018136.5(ASPM):c.1990C>T:p.Gln664Ter	coding	Pathogenic
1	197139806	C	A	C197139806A	ASPM	NM_018136.5(ASPM):c.1987G>T:p.Ala663Ser	coding	Benign/Likely_benign
1	197139816	A	G	A197139816G	ASPM	NM_018136.5(ASPM):c.1977T>C:p.Ile659=	coding	Benign
1	197139912	C	T	C197139912T	ASPM	NM_018136.5(ASPM):c.1922-41G>A	noncoding	Benign
1	197142520	C	T	C197142520T	ASPM	NM_018136.5(ASPM):c.1732G>A:p.Asp578Asn	coding	Benign/Likely_benign
1	197142555	G	T	G197142555T	ASPM	NM_018136.5(ASPM):c.1697C>A:p.Ser566Ter	coding	Pathogenic
1	197142578	A	T	A197142578T	ASPM	NM_018136.5(ASPM):c.1674T>A:p.Tyr558Ter	coding	Pathogenic/Likely_pathogenic
1	197142801	T	C	T197142801C	ASPM	NM_018136.5(ASPM):c.1451A>G:p.Asn484Ser	coding	Benign
1	197142866	G	C	G197142866C	ASPM	NM_018136.5(ASPM):c.1386C>G:p.Tyr462Ter	coding	Pathogenic
1	197142867	T	C	T197142867C	ASPM	NM_018136.5(ASPM):c.1385A>G:p.Tyr462Cys	coding	Benign/Likely_benign
1	197142886	C	A	C197142886A	ASPM	NM_018136.5(ASPM):c.1366G>T:p.Glu456Ter	coding	Pathogenic
1	197142964	T	C	T197142964C	ASPM	NM_018136.5(ASPM):c.1288A>G:p.Arg430Gly	coding	Benign
1	197143114	G	A	G197143114A	ASPM	NM_018136.5(ASPM):c.1138C>T:p.Gln380Ter	coding	Pathogenic
1	197143403	G	A	G197143403A	ASPM	NM_018136.5(ASPM):c.849C>T:p.Ser283=	coding	Benign
1	197143404	G	A	G197143404A	ASPM	NM_018136.5(ASPM):c.848C>T:p.Ser283Phe	coding	Benign
1	197143608	T	G	T197143608G	ASPM	NM_018136.5(ASPM):c.644A>C:p.Glu215Ala	coding	Benign
1	197143646	T	C	T197143646C	ASPM	NM_018136.5(ASPM):c.606A>G:p.Glu202=	coding	Benign
1	197143671	G	T	G197143671T	ASPM	NM_018136.5(ASPM):c.581C>A:p.Ala194Asp	coding	Benign/Likely_benign
1	197143943	G	A	G197143943A	ASPM	NM_018136.5(ASPM):c.441+14C>T	noncoding	Benign/Likely_benign
1	197144049	G	A	G197144049A	ASPM	NM_018136.5(ASPM):c.349C>T:p.Arg117Ter	coding	Pathogenic
1	197146140	C	G	C197146140G	ASPM	NM_018136.5(ASPM):c.297+1G>C	noncoding	Pathogenic
1	197146215	C	T	C197146215T	ASPM	NM_018136.5(ASPM):c.223G>A:p.Ala75Thr	coding	Benign/Likely_benign
1	197146446	C	A	C197146446A	ASPM	NM_018136.5(ASPM):c.-9G>T	noncoding	Benign/Likely_benign
1	197268475	C	A	C197268475A	CRB1	NM_201253.3(CRB1):c.63C>A:p.Tyr21Ter	coding	Pathogenic
1	197268483	G	A	G197268483A	CRB1	NM_201253.3(CRB1):c.70+1G>A	coding	Pathogenic
1	197328410	A	T	A197328410T	CRB1	NM_201253.3(CRB1):c.71-12A>T	noncoding	Benign
1	197328431	G	C	G197328431C	CRB1	NM_201253.3(CRB1):c.80G>C:p.Cys27Ser	coding	Pathogenic
1	197328431	G	T	G197328431T	CRB1	NM_201253.3(CRB1):c.80G>T:p.Cys27Phe	coding	Pathogenic
1	197328730	C	T	C197328730T	CRB1	NM_201253.3(CRB1):c.379C>T:p.Gln127Ter	coding	Pathogenic
1	197328758	G	A	G197328758A	CRB1	NM_201253.3(CRB1):c.407G>A:p.Cys136Tyr	coding	Pathogenic
1	197328775	G	T	G197328775T	CRB1	NM_201253.3(CRB1):c.424G>T:p.Gly142Ter	coding	Pathogenic
1	197328798	C	T	C197328798T	CRB1	NM_201253.3(CRB1):c.447C>T:p.His149=	coding	Benign
1	197328806	G	A	G197328806A	CRB1	NM_201253.3(CRB1):c.455G>A:p.Cys152Tyr	coding	Pathogenic
1	197328841	C	T	C197328841T	CRB1	NM_201253.3(CRB1):c.490C>T:p.Gln164Ter	coding	Pathogenic
1	197328873	T	A	T197328873A	CRB1	NM_201253.3(CRB1):c.522T>A:p.Cys174Ter	coding	Pathogenic
1	197328935	G	T	G197328935T	CRB1	NM_201253.3(CRB1):c.584G>T:p.Cys195Phe	coding	Pathogenic/Likely_pathogenic
1	197328975	T	A	T197328975A	CRB1	NM_201253.3(CRB1):c.624T>A:p.Tyr208Ter	coding	Pathogenic
1	197344292	G	A	G197344292A	CRB1	NM_201253.3(CRB1):c.664G>A:p.Glu222Lys	coding	Benign/Likely_benign
1	197344315	G	A	G197344315A	CRB1	NM_201253.3(CRB1):c.687G>A:p.Trp229Ter	coding	Pathogenic
1	197344319	C	T	C197344319T	CRB1	NM_201253.3(CRB1):c.691C>T:p.Gln231Ter	coding	Pathogenic
1	197344327	T	A	T197344327A	CRB1	NM_201253.3(CRB1):c.699T>A:p.Cys233Ter	coding	Pathogenic
1	197344433	C	T	C197344433T	CRB1	NM_201253.3(CRB1):c.805C>T:p.Gln269Ter	coding	Pathogenic
1	197347305	T	C	T197347305C	CRB1	NM_201253.3(CRB1):c.849-35T>C	noncoding	Benign
1	197347475	G	A	G197347475A	CRB1	NM_201253.3(CRB1):c.984G>A:p.Trp328Ter	coding	Pathogenic
1	197356840	G	A	G197356840A	CRB1	NM_201253.3(CRB1):c.998G>A:p.Gly333Asp	coding	Pathogenic
1	197356926	C	T	C197356926T	CRB1	NM_201253.3(CRB1):c.1084C>T:p.Gln362Ter	coding	Pathogenic
1	197356967	C	G	C197356967G	CRB1	NM_201253.3(CRB1):c.1125C>G:p.Tyr375Ter	coding	Pathogenic
1	197356978	C	G	C197356978G	CRB1	NM_201253.3(CRB1):c.1136C>G:p.Ser379Ter	coding	Pathogenic
1	197356990	G	A	G197356990A	CRB1	NM_201253.3(CRB1):c.1148G>A:p.Cys383Tyr	coding	Pathogenic
1	197357015	T	G	T197357015G	CRB1	NM_201253.3(CRB1):c.1171+2T>G	noncoding	Pathogenic
1	197421008	T	C	T197421008C	CRB1	NM_201253.3(CRB1):c.1180T>C:p.Cys394Arg	coding	Pathogenic/Likely_pathogenic
1	197421010	C	A	C197421010A	CRB1	NM_201253.3(CRB1):c.1182C>A:p.Cys394Ter	coding	Pathogenic
1	197421209	C	T	C197421209T	CRB1	NM_201253.3(CRB1):c.1381C>T:p.Gln461Ter	coding	Pathogenic
1	197421238	A	G	A197421238G	CRB1	NM_201253.3(CRB1):c.1410A>G:p.Leu470=	coding	Benign
1	197421257	G	A	G197421257A	CRB1	NM_201253.3(CRB1):c.1429G>A:p.Gly477Arg	coding	Pathogenic
1	197421264	T	C	T197421264C	CRB1	NM_201253.3(CRB1):c.1436T>C:p.Leu479Pro	coding	Pathogenic
1	197421266	T	C	T197421266C	CRB1	NM_201253.3(CRB1):c.1438T>C:p.Cys480Arg	coding	Pathogenic
1	197421291	T	C	T197421291C	CRB1	NM_201253.3(CRB1):c.1463T>C:p.Phe488Ser	coding	Pathogenic
1	197421307	C	T	C197421307T	CRB1	NM_201253.3(CRB1):c.1479C>T:p.Phe493=	coding	Benign
1	197421404	C	T	C197421404T	CRB1	NM_201253.3(CRB1):c.1576C>T:p.Arg526Ter	coding	Pathogenic
1	197421646	T	A	T197421646A	CRB1	NM_201253.3(CRB1):c.1818T>A:p.Cys606Ter	coding	Pathogenic
1	197421669	G	T	G197421669T	CRB1	NM_201253.3(CRB1):c.1841G>T:p.Gly614Val	coding	Pathogenic
1	197421777	G	A	G197421777A	CRB1	NM_201253.3(CRB1):c.1949G>A:p.Trp650Ter	coding	Pathogenic
1	197421814	A	G	A197421814G	CRB1	NM_201253.3(CRB1):c.1986A>G:p.Ser662=	coding	Benign/Likely_benign
1	197421852	G	A	G197421852A	CRB1	NM_201253.3(CRB1):c.2024G>A:p.Trp675Ter	coding	Pathogenic
1	197421870	G	A	G197421870A	CRB1	NM_201253.3(CRB1):c.2042G>A:p.Cys681Tyr	coding	Pathogenic/Likely_pathogenic
1	197421900	G	A	G197421900A	CRB1	NM_201253.3(CRB1):c.2072G>A:p.Trp691Ter	coding	Pathogenic
1	197421971	A	C	A197421971C	CRB1	NM_201253.3(CRB1):c.2128+15A>C	noncoding	Benign/Likely_benign
1	197427453	G	C	G197427453C	CRB1	NM_201253.3(CRB1):c.2129-1G>C	noncoding	Pathogenic
1	197427454	A	T	A197427454T	CRB1	NM_201253.3(CRB1):c.2129A>T:p.Glu710Val	coding	Pathogenic
1	197427458	T	A	T197427458A	CRB1	NM_201253.3(CRB1):c.2133T>A:p.Tyr711Ter	coding	Pathogenic
1	197427496	A	G	A197427496G	CRB1	NM_201253.3(CRB1):c.2171A>G:p.Tyr724Cys	coding	Pathogenic
1	197427555	C	T	C197427555T	CRB1	NM_201253.3(CRB1):c.2230C>T:p.Arg744Ter	coding	Pathogenic
1	197427559	C	A	C197427559A	CRB1	NM_201253.3(CRB1):c.2234C>A:p.Thr745Lys	coding	Pathogenic
1	197427559	C	T	C197427559T	CRB1	NM_201253.3(CRB1):c.2234C>T:p.Thr745Met	coding	Pathogenic
1	197427615	C	T	C197427615T	CRB1	NM_201253.3(CRB1):c.2290C>T:p.Arg764Cys	coding	Pathogenic
1	197427631	G	A	G197427631A	CRB1	NM_201253.3(CRB1):c.2306G>A:p.Arg769His	coding	Benign/Likely_benign
1	197427633	G	A	G197427633A	CRB1	NM_201253.3(CRB1):c.2308G>A:p.Gly770Ser	coding	Pathogenic/Likely_pathogenic
1	197427726	A	T	A197427726T	CRB1	NM_201253.3(CRB1):c.2401A>T:p.Lys801Ter	coding	Pathogenic
1	197427741	G	T	G197427741T	CRB1	NM_201253.3(CRB1):c.2416G>T:p.Glu806Ter	coding	Pathogenic
1	197427750	C	T	C197427750T	CRB1	NM_201253.3(CRB1):c.2425C>T:p.Gln809Ter	coding	Pathogenic
1	197427791	G	A	G197427791A	CRB1	NM_201253.3(CRB1):c.2466G>A:p.Trp822Ter	coding	Pathogenic
1	197427804	G	T	G197427804T	CRB1	NM_201253.3(CRB1):c.2479G>T:p.Gly827Ter	coding	Pathogenic
1	197427823	G	A	G197427823A	CRB1	NM_201253.3(CRB1):c.2498G>A:p.Gly833Asp	coding	Pathogenic
1	197427863	A	T	A197427863T	CRB1	NM_201253.3(CRB1):c.2538A>T:p.Gly846=	coding	Benign
1	197427873	G	A	G197427873A	CRB1	NM_201253.3(CRB1):c.2548G>A:p.Gly850Ser	coding	Pathogenic
1	197427880	T	C	T197427880C	CRB1	NM_201253.3(CRB1):c.2555T>C:p.Ile852Thr	coding	Pathogenic
1	197427998	C	A	C197427998A	CRB1	NM_201253.3(CRB1):c.2673C>A:p.Cys891Ter	coding	Pathogenic/Likely_pathogenic
1	197429441	C	T	C197429441T	CRB1	NM_201253.3(CRB1):c.2677-8C>T	noncoding	Benign/Likely_benign
1	197429459	G	A	G197429459A	CRB1	NM_201253.3(CRB1):c.2687G>A:p.Cys896Tyr	coding	Pathogenic/Likely_pathogenic
1	197429460	T	A	T197429460A	CRB1	NM_201253.3(CRB1):c.2688T>A:p.Cys896Ter	coding	Pathogenic
1	197429473	G	T	G197429473T	CRB1	NM_201253.3(CRB1):c.2701G>T:p.Val901Phe	coding	Pathogenic
1	197429487	G	A	G197429487A	CRB1	NM_201253.3(CRB1):c.2715G>A:p.Arg905=	coding	Benign/Likely_benign
1	197429555	G	A	G197429555A	CRB1	NM_201253.3(CRB1):c.2783G>A:p.Cys928Tyr	coding	Pathogenic
1	197429581	G	C	G197429581C	CRB1	NM_201253.3(CRB1):c.2809G>C:p.Ala937Pro	coding	Pathogenic
1	197429584	C	T	C197429584T	CRB1	NM_201253.3(CRB1):c.2812C>T:p.Gln938Ter	coding	Pathogenic
1	197429614	T	C	T197429614C	CRB1	NM_201253.3(CRB1):c.2842T>C:p.Cys948Arg	coding	Pathogenic
1	197434777	G	T	G197434777T	CRB1	NM_201253.3(CRB1):c.2914G>T:p.Glu972Ter	coding	Pathogenic
1	197434846	G	T	G197434846T	CRB1	NM_201253.3(CRB1):c.2983G>T:p.Glu995Ter	coding	Pathogenic
1	197434877	A	T	A197434877T	CRB1	NM_201253.3(CRB1):c.3014A>T:p.Asp1005Val	coding	Pathogenic
1	197434900	C	T	C197434900T	CRB1	NM_201253.3(CRB1):c.3037C>T:p.Gln1013Ter	coding	Pathogenic
1	197434985	T	C	T197434985C	CRB1	NM_201253.3(CRB1):c.3122T>C:p.Met1041Thr	coding	Pathogenic
1	197435016	G	A	G197435016A	CRB1	NM_201253.3(CRB1):c.3153G>A:p.Trp1051Ter	coding	Pathogenic
1	197435035	G	T	G197435035T	CRB1	NM_201253.3(CRB1):c.3172G>T:p.Glu1058Ter	coding	Pathogenic
1	197435121	T	A	T197435121A	CRB1	NM_201253.3(CRB1):c.3258T>A:p.Ala1086=	coding	Benign
1	197435162	T	G	T197435162G	CRB1	NM_201253.3(CRB1):c.3299T>G:p.Ile1100Arg	coding	Pathogenic
1	197435170	G	A	G197435170A	CRB1	NM_201253.3(CRB1):c.3307G>A:p.Gly1103Arg	coding	Pathogenic
1	197435351	G	T	G197435351T	CRB1	NM_201253.3(CRB1):c.3488G>T:p.Cys1163Phe	coding	Pathogenic
1	197435358	T	G	T197435358G	CRB1	NM_201253.3(CRB1):c.3495T>G:p.Cys1165Trp	coding	Pathogenic
1	197435370	G	A	G197435370A	CRB1	NM_201253.3(CRB1):c.3507G>A:p.Trp1169Ter	coding	Pathogenic
1	197435404	T	C	T197435404C	CRB1	NM_201253.3(CRB1):c.3541T>C:p.Cys1181Arg	coding	Pathogenic
1	197435539	G	T	G197435539T	CRB1	NM_201253.3(CRB1):c.3676G>T:p.Gly1226Ter	coding	Pathogenic
1	197442166	G	A	G197442166A	CRB1	NM_201253.3(CRB1):c.3879G>A:p.Trp1293Ter	coding	Pathogenic
1	197442221	T	A	T197442221A	CRB1	NM_201253.3(CRB1):c.3934T>A:p.Cys1312Ser	coding	Pathogenic
1	197442239	A	T	A197442239T	CRB1	NM_201253.3(CRB1):c.3952A>T:p.Lys1318Ter	coding	Pathogenic
1	197442278	C	T	C197442278T	CRB1	NM_201253.3(CRB1):c.3991C>T:p.Arg1331Cys	coding	Pathogenic
1	197442279	G	A	G197442279A	CRB1	NM_201253.3(CRB1):c.3992G>A:p.Arg1331His	coding	Benign/Likely_benign
1	197442283	C	A	C197442283A	CRB1	NM_201253.3(CRB1):c.3996C>A:p.Cys1332Ter	coding	Pathogenic
1	197442284	G	T	G197442284T	CRB1	NM_201253.3(CRB1):c.3997G>T:p.Glu1333Ter	coding	Pathogenic
1	197442293	G	A	G197442293A	CRB1	NM_201253.3(CRB1):c.4005+1G>A	coding	Pathogenic
1	197477799	C	A	C197477799A	CRB1	NM_201253.3(CRB1):c.4141C>A:p.Pro1381Thr	coding	Pathogenic
1	197477826	C	T	C197477826T	CRB1	NM_201253.3(CRB1):c.4168C>T:p.Arg1390Ter	coding	Pathogenic
1	197477907	T	C	T197477907C	CRB1	NM_201253.3(CRB1):c.*28T>C	noncoding	Benign/Likely_benign
1	197510832	G	A	G197510832A	DENND1B	NM_001195215.2(DENND1B):c.1956C>T:p.Ser652=	coding	Benign
1	197511754	T	C	T197511754C	DENND1B	NM_001195215.2(DENND1B):c.1789A>G:p.Met597Val	coding	Benign
1	197617670	C	T	C197617670T	DENND1B	NM_001195215.2(DENND1B):c.762G>A:p.Leu254=	coding	Benign
1	197929226	C	T	C197929226T	LHX9	NM_020204.3(LHX9):c.1161C>T:p.Ser387=	coding	Benign
1	198639307	C	T	C198639307T	PTPRC	NM_002838.5(PTPRC):c.39C>T:p.Gly13=	coding	Benign
1	198696743	A	G	A198696743G	PTPRC	NM_002838.5(PTPRC):c.132A>G:p.Pro44=	coding	Benign/Likely_benign
1	198696765	A	G	A198696765G	PTPRC	NM_002838.5(PTPRC):c.154A>G:p.Thr52Ala	coding	Benign
1	198696788	C	G	C198696788G	PTPRC	NM_002838.5(PTPRC):c.177C>G:p.Pro59=	coding	Benign/Likely_benign
1	198699632	G	C	G198699632C	PTPRC	NM_002838.5(PTPRC):c.367G>C:p.Asp123His	coding	Benign
1	198702524	A	G	A198702524G	PTPRC	NM_002838.5(PTPRC):c.577A>G:p.Thr193Ala	coding	Benign
1	198706934	A	C	A198706934C	PTPRC	NM_002838.5(PTPRC):c.886A>C:p.Ile296Leu	coding	Benign
1	198708257	G	A	G198708257A	PTPRC	NM_002838.5(PTPRC):c.1029G>A:p.Gln343=	coding	Benign
1	198709705	A	G	A198709705G	PTPRC	NM_002838.5(PTPRC):c.1052A>G:p.Asn351Ser	coding	Benign
1	198713049	C	T	C198713049T	PTPRC	NM_002838.5(PTPRC):c.1268C>T:p.Thr423Ile	coding	Benign/Likely_benign
1	198716841	G	A	G198716841A	PTPRC	NM_002838.5(PTPRC):c.1450+1G>A	coding	Pathogenic
1	198718227	G	A	G198718227A	PTPRC	NM_002838.5(PTPRC):c.1584G>A:p.Leu528=	coding	Benign
1	198718267	A	T	A198718267T	PTPRC	NM_002838.5(PTPRC):c.1624A>T:p.Lys542Ter	coding	Pathogenic
1	198722460	A	G	A198722460G	PTPRC	NM_002838.5(PTPRC):c.1704A>G:p.Leu568=	coding	Benign
1	198722466	T	A	T198722466A	PTPRC	NM_002838.5(PTPRC):c.1710T>A:p.His570Gln	coding	Benign
1	198728462	T	A	T198728462A	PTPRC	NM_002838.5(PTPRC):c.1829+14T>A	noncoding	Benign
1	198728467	T	A	T198728467A	PTPRC	NM_002838.5(PTPRC):c.1829+19T>A	noncoding	Benign
1	198735144	C	G	C198735144G	PTPRC	NM_002838.5(PTPRC):c.2295C>G:p.Tyr765Ter	coding	Pathogenic
1	198742295	C	T	C198742295T	PTPRC	NM_002838.5(PTPRC):c.2625C>T:p.Ala875=	coding	Benign
1	198748106	C	T	C198748106T	PTPRC	NM_002838.5(PTPRC):c.2848-3C>T	noncoding	Benign
1	198749417	T	A	T198749417A	PTPRC	NM_002838.5(PTPRC):c.2940T>A:p.Tyr980Ter	coding	Pathogenic
1	198752665	C	T	C198752665T	PTPRC	NM_002838.5(PTPRC):c.3402C>T:p.Pro1134=	coding	Benign
1	198756040	T	C	T198756040C	PTPRC	NM_002838.5(PTPRC):c.3780T>C:p.Asn1260=	coding	Benign
1	198756073	C	A	C198756073A	PTPRC	NM_002838.5(PTPRC):c.3813C>A:p.Leu1271=	coding	Benign/Likely_benign
1	200045454	G	A	G200045454A	NR5A2	NM_205860.3(NR5A2):c.333G>A:p.Lys111=	coding	Benign
1	200048706	G	C	G200048706C	NR5A2	NM_205860.3(NR5A2):c.998G>C:p.Arg333Pro	coding	Benign
1	200407966	T	C	T200407966C	ZNF281	NM_001281293.2(ZNF281):c.1740A>G:p.Pro580=	coding	Benign
1	200553493	G	A	G200553493A	KIF14	NM_014875.3(KIF14):c.4842C>T:p.Asp1614=	coding	Benign
1	200553721	A	G	A200553721G	KIF14	NM_014875.3(KIF14):c.4614T>C:p.Ile1538=	coding	Benign
1	200559439	T	A	T200559439A	KIF14	NM_014875.3(KIF14):c.4244A>T:p.Asp1415Val	coding	Benign
1	200565069	C	T	C200565069T	KIF14	NM_014875.3(KIF14):c.4071G>A:p.Gln1357=	coding	Pathogenic
1	200565523	T	G	T200565523G	KIF14	NM_014875.3(KIF14):c.3808A>C:p.Ser1270Arg	coding	Benign/Likely_benign
1	200565584	C	T	C200565584T	KIF14	NM_014875.3(KIF14):c.3747G>A:p.Ser1249=	coding	Benign
1	200565669	C	A	C200565669A	KIF14	NM_014875.3(KIF14):c.3662G>T:p.Gly1221Val	coding	Pathogenic
1	200569921	T	C	T200569921C	KIF14	NM_014875.3(KIF14):c.3651A>G:p.Ser1217=	coding	Benign
1	200581241	C	T	C200581241T	KIF14	NM_014875.3(KIF14):c.3295G>A:p.Ala1099Thr	coding	Benign
1	200589292	C	T	C200589292T	KIF14	NM_014875.3(KIF14):c.3039G>A:p.Lys1013=	coding	Benign
1	200598241	G	C	G200598241C	KIF14	NM_014875.3(KIF14):c.2545C>G:p.His849Asp	coding	Pathogenic
1	200600423	G	T	G200600423T	KIF14	NM_014875.3(KIF14):c.2233C>A:p.Arg745=	coding	Benign
1	200600455	C	T	C200600455T	KIF14	NM_014875.3(KIF14):c.2201G>A:p.Arg734Gln	coding	Benign
1	200600463	T	C	T200600463C	KIF14	NM_014875.3(KIF14):c.2193A>G:p.Arg731=	coding	Benign
1	200603842	T	C	T200603842C	KIF14	NM_014875.3(KIF14):c.1860A>G:p.Leu620=	coding	Benign
1	200603922	T	A	T200603922A	KIF14	NM_014875.3(KIF14):c.1780A>T:p.Arg594Ter	coding	Pathogenic
1	200605295	C	T	C200605295T	KIF14	NM_014875.3(KIF14):c.1734G>A:p.Met578Ile	coding	Benign
1	200617737	G	A	G200617737A	KIF14	NM_014875.3(KIF14):c.987C>T:p.Ser329=	coding	Benign
1	200617783	T	C	T200617783C	KIF14	NM_014875.3(KIF14):c.941A>G:p.Lys314Arg	coding	Benign
1	200618461	A	T	A200618461T	KIF14	NM_014875.3(KIF14):c.263T>A:p.Leu88Ter	coding	Pathogenic
1	200618573	C	T	C200618573T	KIF14	NM_014875.3(KIF14):c.151G>A:p.Asp51Asn	coding	Benign
1	200644514	C	T	C200644514T	DDX59	NM_001031725.6(DDX59):c.1600G>A:p.Gly534Arg	coding	Pathogenic
1	200648497	C	T	C200648497T	DDX59	NM_001031725.6(DDX59):c.1538G>A:p.Ser513Asn	coding	Benign
1	200649118	T	C	T200649118C	DDX59	NM_001031725.6(DDX59):c.1423A>G:p.Ile475Val	coding	Benign
1	200649204	G	A	G200649204A	DDX59	NM_001031725.6(DDX59):c.1337C>T:p.Pro446Leu	coding	Benign
1	200650639	A	C	A200650639C	DDX59	NM_001031725.6(DDX59):c.1100T>G:p.Val367Gly	coding	Pathogenic
1	200663925	A	G	A200663925G	DDX59	NM_001031725.6(DDX59):c.966T>C:p.His322=	coding	Benign
1	200849852	C	G	C200849852G	CAMSAP2	NM_001297707.2(CAMSAP2):c.3116C>G:p.Pro1039Arg	coding	Benign
1	200891603	G	A	G200891603A	INAVA	NM_018265.4(INAVA):c.63G>A:p.Arg21=	coding	Benign
1	200891603	G	C	G200891603C	INAVA	NM_018265.4(INAVA):c.63G>C:p.Arg21=	coding	Benign
1	200898444	T	A	T200898444A	INAVA	NM_001142569.3(INAVA):c.44T>A:p.Ile15Asn	coding	Benign
1	200900178	C	T	C200900178T	INAVA	NM_001142569.3(INAVA):c.255C>T:p.Ile85=	coding	Benign
1	200911850	C	T	C200911850T	INAVA	NM_001142569.3(INAVA):c.1357C>T:p.Arg453Cys	coding	Benign
1	200911898	C	T	C200911898T	INAVA	NM_001142569.3(INAVA):c.1405C>T:p.Arg469Cys	coding	Benign
1	200986922	C	A	C200986922A	KIF21B	NM_001252102.2(KIF21B):c.3615-4G>T	noncoding	Benign
1	200990600	C	T	C200990600T	KIF21B	NM_001252100.2(KIF21B):c.2811G>A:p.Glu937=	coding	Benign
1	201000416	C	T	C201000416T	KIF21B	NM_001252102.2(KIF21B):c.1659G>A:p.Lys553=	coding	Benign
1	201000615	A	G	A201000615G	KIF21B	NM_001252100.2(KIF21B):c.1467-7T>C	noncoding	Benign
1	201003601	C	A	C201003601A	KIF21B	NM_001252102.2(KIF21B):c.1197G>T:p.Leu399=	coding	Benign
1	201005542	C	T	C201005542T	KIF21B	NM_001252100.2(KIF21B):c.597+3G>A	noncoding	Benign
1	201008862	T	G	T201008862G	KIF21B	NM_001252100.2(KIF21B):c.354A>C:p.Ala118=	coding	Benign
1	201039521	T	A	T201039521A	CACNA1S	NM_000069.3(CACNA1S):c.*310A>T	noncoding	Benign
1	201039883	C	T	C201039883T	CACNA1S	NM_000069.3(CACNA1S):c.5570G>A:p.Ser1857Asn	coding	Benign/Likely_benign
1	201039899	C	T	C201039899T	CACNA1S	NM_000069.3(CACNA1S):c.5554G>A:p.Gly1852Arg	coding	Benign/Likely_benign
1	201039938	G	A	G201039938A	CACNA1S	NM_000069.3(CACNA1S):c.5515C>T:p.Pro1839Ser	coding	Benign/Likely_benign
1	201039943	T	G	T201039943G	CACNA1S	NM_000069.3(CACNA1S):c.5510A>C:p.Glu1837Ala	coding	Benign/Likely_benign
1	201040054	A	G	A201040054G	CACNA1S	NM_000069.3(CACNA1S):c.5399T>C:p.Leu1800Ser	coding	Benign
1	201040221	C	T	C201040221T	CACNA1S	NM_000069.3(CACNA1S):c.5370+10G>A	noncoding	Benign/Likely_benign
1	201040302	G	T	G201040302T	CACNA1S	NM_000069.3(CACNA1S):c.5299C>A:p.Pro1767Thr	coding	Benign/Likely_benign
1	201040428	A	G	A201040428G	CACNA1S	NM_000069.3(CACNA1S):c.5227-54T>C	noncoding	Benign
1	201040769	T	C	T201040769C	CACNA1S	NM_000069.3(CACNA1S):c.5135-56A>G	noncoding	Benign
1	201041496	G	A	G201041496A	CACNA1S	NM_000069.3(CACNA1S):c.5134+8C>T	noncoding	Benign
1	201041551	G	A	G201041551A	CACNA1S	NM_000069.3(CACNA1S):c.5087C>T:p.Thr1696Met	coding	Benign
1	201041734	T	C	T201041734C	CACNA1S	NM_000069.3(CACNA1S):c.5049-145A>G	noncoding	Benign
1	201043119	C	T	C201043119T	CACNA1S	NM_000069.3(CACNA1S):c.5048+162G>A	noncoding	Benign
1	201043356	C	T	C201043356T	CACNA1S	NM_000069.3(CACNA1S):c.4973G>A:p.Arg1658His	coding	Benign
1	201043375	G	A	G201043375A	CACNA1S	NM_000069.3(CACNA1S):c.4954C>T:p.Arg1652Cys	coding	Benign/Likely_benign
1	201043469	G	A	G201043469A	CACNA1S	NM_000069.3(CACNA1S):c.4860C>T:p.Pro1620=	coding	Benign
1	201043809	C	T	C201043809T	CACNA1S	NM_000069.3(CACNA1S):c.4798-278G>A	noncoding	Benign
1	201044208	T	C	T201044208C	CACNA1S	NM_000069.3(CACNA1S):c.4797+120A>G	noncoding	Benign
1	201044439	A	G	A201044439G	CACNA1S	NM_000069.3(CACNA1S):c.4686T>C:p.Ile1562=	coding	Benign/Likely_benign
1	201044467	C	T	C201044467T	CACNA1S	NM_000069.3(CACNA1S):c.4669-11G>A	noncoding	Benign
1	201044606	G	A	G201044606A	CACNA1S	NM_000069.3(CACNA1S):c.4669-150C>T	noncoding	Benign
1	201047096	A	G	A201047096G	CACNA1S	NM_000069.3(CACNA1S):c.4668+19T>C	noncoding	Benign/Likely_benign
1	201047168	G	A	G201047168A	CACNA1S	NM_000069.3(CACNA1S):c.4615C>T:p.Arg1539Cys	coding	Benign
1	201047518	C	T	C201047518T	CACNA1S	NM_000069.3(CACNA1S):c.4543+7G>A	noncoding	Benign
1	201047600	G	A	G201047600A	CACNA1S	NM_000069.3(CACNA1S):c.4468C>T:p.Leu1490=	coding	Benign
1	201047606	C	T	C201047606T	CACNA1S	NM_000069.3(CACNA1S):c.4462G>A:p.Glu1488Lys	coding	Benign/Likely_benign
1	201048604	C	G	C201048604G	CACNA1S	NM_000069.3(CACNA1S):c.4419G>C:p.Thr1473=	coding	Benign
1	201048677	A	C	A201048677C	CACNA1S	NM_000069.3(CACNA1S):c.4346T>G:p.Val1449Gly	coding	Benign
1	201050206	C	T	C201050206T	CACNA1S	NM_000069.3(CACNA1S):c.4241+183G>A	noncoding	Benign
1	201050524	A	G	A201050524G	CACNA1S	NM_000069.3(CACNA1S):c.4114-8T>C	noncoding	Benign/Likely_benign
1	201050977	A	G	A201050977G	CACNA1S	NM_000069.3(CACNA1S):c.4113+7T>C	noncoding	Benign
1	201051044	T	C	T201051044C	CACNA1S	NM_000069.3(CACNA1S):c.4053A>G:p.Thr1351=	coding	Benign
1	201051072	G	T	G201051072T	CACNA1S	NM_000069.3(CACNA1S):c.4025C>A:p.Ser1342Ter	coding	Pathogenic
1	201051232	G	A	G201051232A	CACNA1S	NM_000069.3(CACNA1S):c.3954-89C>T	noncoding	Benign
1	201052491	C	G	C201052491G	CACNA1S	NM_000069.3(CACNA1S):c.3953+66G>C	noncoding	Benign
1	201052543	C	T	C201052543T	CACNA1S	NM_000069.3(CACNA1S):c.3953+14G>A	noncoding	Benign/Likely_benign
1	201052550	C	T	C201052550T	CACNA1S	NM_000069.3(CACNA1S):c.3953+7G>A	noncoding	Benign/Likely_benign
1	201052551	G	A	G201052551A	CACNA1S	NM_000069.3(CACNA1S):c.3953+6C>T	noncoding	Benign
1	201053195	C	A	C201053195A	CACNA1S	NM_000069.3(CACNA1S):c.3861+14G>T	noncoding	Benign
1	201053248	G	A	G201053248A	CACNA1S	NM_000069.3(CACNA1S):c.3822C>T:p.Ile1274=	coding	Benign
1	201053259	C	T	C201053259T	CACNA1S	NM_000069.3(CACNA1S):c.3811G>A:p.Ala1271Thr	coding	Benign
1	201053283	C	T	C201053283T	CACNA1S	NM_000069.3(CACNA1S):c.3796-9G>A	noncoding	Benign
1	201053285	G	A	G201053285A	CACNA1S	NM_000069.3(CACNA1S):c.3796-11C>T	noncoding	Benign/Likely_benign
1	201053288	G	A	G201053288A	CACNA1S	NM_000069.3(CACNA1S):c.3796-14C>T	noncoding	Benign
1	201053456	C	T	C201053456T	CACNA1S	NM_000069.3(CACNA1S):c.3795+3G>A	noncoding	Benign/Likely_benign
1	201053481	C	T	C201053481T	CACNA1S	NM_000069.3(CACNA1S):c.3773G>A:p.Trp1258Ter	coding	Pathogenic
1	201053538	C	T	C201053538T	CACNA1S	NM_000069.3(CACNA1S):c.3716G>A:p.Arg1239His	coding	Pathogenic
1	201053539	G	C	G201053539C	CACNA1S	NM_000069.3(CACNA1S):c.3715C>G:p.Arg1239Gly	coding	Pathogenic
1	201053906	C	G	C201053906G	CACNA1S	NM_000069.3(CACNA1S):c.3667-319G>C	noncoding	Benign
1	201054555	G	A	G201054555A	CACNA1S	NM_000069.3(CACNA1S):c.3616C>T:p.Leu1206=	coding	Benign/Likely_benign
1	201054852	G	C	G201054852C	CACNA1S	NM_000069.3(CACNA1S):c.3610-291C>G	noncoding	Benign
1	201058411	G	A	G201058411A	CACNA1S	NM_000069.3(CACNA1S):c.3606C>T:p.Ile1202=	coding	Benign
1	201058493	T	C	T201058493C	CACNA1S	NM_000069.3(CACNA1S):c.3526-2A>G	noncoding	Pathogenic
1	201058723	G	A	G201058723A	CACNA1S	NM_000069.3(CACNA1S):c.3526-232C>T	noncoding	Benign
1	201059171	G	A	G201059171A	CACNA1S	NM_000069.3(CACNA1S):c.3525+18C>T	noncoding	Benign
1	201059312	C	A	C201059312A	CACNA1S	NM_000069.3(CACNA1S):c.3415-13G>T	noncoding	Benign
1	201060741	C	T	C201060741T	CACNA1S	NM_000069.3(CACNA1S):c.3331G>A:p.Val1111Met	coding	Benign/Likely_benign
1	201060811	T	C	T201060811C	CACNA1S	NM_000069.3(CACNA1S):c.3261A>G:p.Gln1087=	coding	Benign
1	201061540	G	A	G201061540A	CACNA1S	NM_000069.3(CACNA1S):c.3054-72C>T	noncoding	Benign
1	201061931	A	G	A201061931G	CACNA1S	NM_000069.3(CACNA1S):c.3053+13T>C	noncoding	Benign
1	201062027	C	T	C201062027T	CACNA1S	NM_000069.3(CACNA1S):c.2970G>A:p.Trp990Ter	coding	Pathogenic
1	201065907	G	A	G201065907A	CACNA1S	NM_000069.3(CACNA1S):c.2784C>T:p.Ile928=	coding	Benign
1	201065943	G	A	G201065943A	CACNA1S	NM_000069.3(CACNA1S):c.2748C>T:p.His916=	coding	Benign
1	201065943	G	C	G201065943C	CACNA1S	NM_000069.3(CACNA1S):c.2748C>G:p.His916Gln	coding	Pathogenic
1	201065959	G	A	G201065959A	CACNA1S	NM_000069.3(CACNA1S):c.2746-14C>T	noncoding	Benign
1	201065961	C	T	C201065961T	CACNA1S	NM_000069.3(CACNA1S):c.2746-16G>A	noncoding	Benign
1	201066215	G	A	G201066215A	CACNA1S	NM_000069.3(CACNA1S):c.2745+14C>T	noncoding	Benign/Likely_benign
1	201066301	G	A	G201066301A	CACNA1S	NM_000069.3(CACNA1S):c.2673C>T:p.Ser891=	coding	Benign
1	201066307	G	A	G201066307A	CACNA1S	NM_000069.3(CACNA1S):c.2667C>T:p.Ala889=	coding	Benign
1	201066360	A	T	A201066360T	CACNA1S	NM_000069.3(CACNA1S):c.2658-44T>A	noncoding	Benign
1	201066479	G	T	G201066479T	CACNA1S	NM_000069.3(CACNA1S):c.2658-163C>A	noncoding	Benign
1	201066916	C	A	C201066916A	CACNA1S	NM_000069.3(CACNA1S):c.2628G>T:p.Val876=	coding	Benign
1	201066917	A	T	A201066917T	CACNA1S	NM_000069.3(CACNA1S):c.2627T>A:p.Val876Glu	coding	Pathogenic
1	201066943	G	A	G201066943A	CACNA1S	NM_000069.3(CACNA1S):c.2601C>T:p.Tyr867=	coding	Benign/Likely_benign
1	201066950	C	T	C201066950T	CACNA1S	NM_000069.3(CACNA1S):c.2594G>A:p.Arg865His	coding	Benign/Likely_benign
1	201069148	T	C	T201069148C	CACNA1S	NM_000069.3(CACNA1S):c.2539A>G:p.Ile847Val	coding	Benign
1	201069482	A	G	A201069482G	CACNA1S	NM_000069.3(CACNA1S):c.2480T>C:p.Met827Thr	coding	Benign
1	201069508	C	A	C201069508A	CACNA1S	NM_000069.3(CACNA1S):c.2454G>T:p.Ala818=	coding	Benign
1	201069508	C	T	C201069508T	CACNA1S	NM_000069.3(CACNA1S):c.2454G>A:p.Ala818=	coding	Benign/Likely_benign
1	201069523	G	A	G201069523A	CACNA1S	NM_000069.3(CACNA1S):c.2439C>T:p.Ser813=	coding	Benign/Likely_benign
1	201069559	A	G	A201069559G	CACNA1S	NM_000069.3(CACNA1S):c.2403T>C:p.Phe801=	coding	Benign
1	201069612	G	A	G201069612A	CACNA1S	NM_000069.3(CACNA1S):c.2361-11C>T	noncoding	Benign/Likely_benign
1	201069614	G	A	G201069614A	CACNA1S	NM_000069.3(CACNA1S):c.2361-13C>T	noncoding	Benign/Likely_benign
1	201070373	C	T	C201070373T	CACNA1S	NM_000069.3(CACNA1S):c.2259G>A:p.Pro753=	coding	Benign
1	201072740	C	T	C201072740T	CACNA1S	NM_000069.3(CACNA1S):c.2227+15G>A	noncoding	Benign
1	201073490	G	A	G201073490A	CACNA1S	NM_000069.3(CACNA1S):c.2157+59C>T	noncoding	Benign
1	201073855	G	A	G201073855A	CACNA1S	NM_000069.3(CACNA1S):c.2064-213C>T	noncoding	Benign
1	201074173	C	T	C201074173T	CACNA1S	NM_000069.3(CACNA1S):c.2063+333G>A	noncoding	Benign
1	201074499	C	A	C201074499A	CACNA1S	NM_000069.3(CACNA1S):c.2063+7G>T	noncoding	Benign
1	201074522	G	A	G201074522A	CACNA1S	NM_000069.3(CACNA1S):c.2047C>T:p.Arg683Cys	coding	Benign
1	201074574	G	A	G201074574A	CACNA1S	NM_000069.3(CACNA1S):c.1995C>T:p.Ala665=	coding	Benign
1	201074626	C	T	C201074626T	CACNA1S	NM_000069.3(CACNA1S):c.1949-6G>A	noncoding	Benign/Likely_benign
1	201074627	G	A	G201074627A	CACNA1S	NM_000069.3(CACNA1S):c.1949-7C>T	noncoding	Benign/Likely_benign
1	201075216	C	T	C201075216T	CACNA1S	NM_000069.3(CACNA1S):c.1948+279G>A	noncoding	Benign
1	201075485	G	C	G201075485C	CACNA1S	NM_000069.3(CACNA1S):c.1948+10C>G	noncoding	Benign/Likely_benign
1	201075507	C	T	C201075507T	CACNA1S	NM_000069.3(CACNA1S):c.1936G>A:p.Val646Ile	coding	Benign
1	201075508	G	A	G201075508A	CACNA1S	NM_000069.3(CACNA1S):c.1935C>T:p.Phe645=	coding	Benign/Likely_benign
1	201075528	T	C	T201075528C	CACNA1S	NM_000069.3(CACNA1S):c.1915A>G:p.Ile639Val	coding	Benign
1	201075540	T	C	T201075540C	CACNA1S	NM_000069.3(CACNA1S):c.1903A>G:p.Met635Val	coding	Benign/Likely_benign
1	201075562	G	A	G201075562A	CACNA1S	NM_000069.3(CACNA1S):c.1881C>T:p.Tyr627=	coding	Benign/Likely_benign
1	201075596	C	T	C201075596T	CACNA1S	NM_000069.3(CACNA1S):c.1847G>A:p.Trp616Ter	coding	Pathogenic
1	201075598	G	A	G201075598A	CACNA1S	NM_000069.3(CACNA1S):c.1845C>T:p.Asp615=	coding	Benign/Likely_benign
1	201075620	A	G	A201075620G	CACNA1S	NM_000069.3(CACNA1S):c.1828-5T>C	noncoding	Benign
1	201076930	C	T	C201076930T	CACNA1S	NM_000069.3(CACNA1S):c.1817G>A:p.Ser606Asn	coding	Benign/Likely_benign
1	201076967	G	A	G201076967A	CACNA1S	NM_000069.3(CACNA1S):c.1780C>T:p.Arg594Cys	coding	Benign
1	201077036	C	T	C201077036T	CACNA1S	NM_000069.3(CACNA1S):c.1711G>A:p.Val571Ile	coding	Benign/Likely_benign
1	201077077	C	T	C201077077T	CACNA1S	NM_000069.3(CACNA1S):c.1670G>A:p.Arg557His	coding	Benign/Likely_benign
1	201077118	C	A	C201077118A	CACNA1S	NM_000069.3(CACNA1S):c.1629G>T:p.Thr543=	coding	Benign/Likely_benign
1	201077251	T	G	T201077251G	CACNA1S	NM_000069.3(CACNA1S):c.1620-124A>C	noncoding	Benign
1	201077260	A	G	A201077260G	CACNA1S	NM_000069.3(CACNA1S):c.1620-133T>C	noncoding	Benign
1	201077915	C	T	C201077915T	CACNA1S	NM_000069.3(CACNA1S):c.1583G>A:p.Arg528His	coding	Pathogenic
1	201077916	G	C	G201077916C	CACNA1S	NM_000069.3(CACNA1S):c.1582C>G:p.Arg528Gly	coding	Pathogenic
1	201077934	G	A	G201077934A	CACNA1S	NM_000069.3(CACNA1S):c.1564C>T:p.Leu522=	coding	Benign
1	201077947	A	G	A201077947G	CACNA1S	NM_000069.3(CACNA1S):c.1551T>C:p.Gly517=	coding	Benign
1	201077950	C	T	C201077950T	CACNA1S	NM_000069.3(CACNA1S):c.1548G>A:p.Ser516=	coding	Benign
1	201077951	G	A	G201077951A	CACNA1S	NM_000069.3(CACNA1S):c.1547C>T:p.Ser516Leu	coding	Benign/Likely_benign
1	201077983	A	G	A201077983G	CACNA1S	NM_000069.3(CACNA1S):c.1515T>C:p.Cys505=	coding	Benign
1	201077992	G	A	G201077992A	CACNA1S	NM_000069.3(CACNA1S):c.1506C>T:p.Phe502=	coding	Benign/Likely_benign
1	201077995	G	T	G201077995T	CACNA1S	NM_000069.3(CACNA1S):c.1503C>A:p.Cys501Ter	coding	Pathogenic
1	201078007	G	A	G201078007A	CACNA1S	NM_000069.3(CACNA1S):c.1491C>T:p.Asn497=	coding	Benign
1	201078028	C	T	C201078028T	CACNA1S	NM_000069.3(CACNA1S):c.1470G>A:p.Gln490=	coding	Benign
1	201078046	G	A	G201078046A	CACNA1S	NM_000069.3(CACNA1S):c.1452C>T:p.Tyr484=	coding	Benign/Likely_benign
1	201078103	G	A	G201078103A	CACNA1S	NM_000069.3(CACNA1S):c.1395C>T:p.Asp465=	coding	Benign/Likely_benign
1	201083071	T	C	T201083071C	CACNA1S	NM_000069.3(CACNA1S):c.1393+91A>G	noncoding	Benign
1	201083155	G	A	G201083155A	CACNA1S	NM_000069.3(CACNA1S):c.1393+7C>T	noncoding	Benign
1	201083182	A	T	A201083182T	CACNA1S	NM_000069.3(CACNA1S):c.1373T>A:p.Leu458His	coding	Benign
1	201083184	A	C	A201083184C	CACNA1S	NM_000069.3(CACNA1S):c.1371T>G:p.Pro457=	coding	Benign
1	201083231	C	T	C201083231T	CACNA1S	NM_000069.3(CACNA1S):c.1324G>A:p.Val442Ile	coding	Benign/Likely_benign
1	201083254	A	G	A201083254G	CACNA1S	NM_000069.3(CACNA1S):c.1301T>C:p.Phe434Ser	coding	Benign
1	201083512	G	A	G201083512A	CACNA1S	NM_000069.3(CACNA1S):c.1233-190C>T	noncoding	Benign
1	201083615	G	A	G201083615A	CACNA1S	NM_000069.3(CACNA1S):c.1233-293C>T	noncoding	Benign
1	201085069	G	T	G201085069T	CACNA1S	NM_000069.3(CACNA1S):c.1151-38C>A	noncoding	Benign
1	201085443	G	A	G201085443A	CACNA1S	NM_000069.3(CACNA1S):c.1143C>T:p.Phe381=	coding	Benign
1	201087621	T	C	T201087621C	CACNA1S	NM_000069.3(CACNA1S):c.1004+205A>G	noncoding	Benign
1	201087879	G	A	G201087879A	CACNA1S	NM_000069.3(CACNA1S):c.951C>T:p.Leu317=	coding	Benign/Likely_benign
1	201089261	G	C	G201089261C	CACNA1S	NM_000069.3(CACNA1S):c.897C>G:p.Tyr299Ter	coding	Pathogenic
1	201089263	A	G	A201089263G	CACNA1S	NM_000069.3(CACNA1S):c.895T>C:p.Tyr299His	coding	Benign/Likely_benign
1	201089300	G	A	G201089300A	CACNA1S	NM_000069.3(CACNA1S):c.858C>T:p.Tyr286=	coding	Benign
1	201089385	C	A	C201089385A	CACNA1S	NM_000069.3(CACNA1S):c.773G>T:p.Gly258Val	coding	Benign/Likely_benign
1	201089385	C	T	C201089385T	CACNA1S	NM_000069.3(CACNA1S):c.773G>A:p.Gly258Asp	coding	Benign/Likely_benign
1	201089456	C	A	C201089456A	CACNA1S	NM_000069.3(CACNA1S):c.702G>T:p.Val234=	coding	Benign
1	201089564	T	C	T201089564C	CACNA1S	NM_000069.3(CACNA1S):c.695-101A>G	noncoding	Benign
1	201091397	C	T	C201091397T	CACNA1S	NM_000069.3(CACNA1S):c.694+243G>A	noncoding	Benign
1	201091678	T	C	T201091678C	CACNA1S	NM_000069.3(CACNA1S):c.656A>G:p.Lys219Arg	coding	Benign
1	201091737	G	A	G201091737A	CACNA1S	NM_000069.3(CACNA1S):c.597C>T:p.Ile199=	coding	Benign
1	201091805	G	A	G201091805A	CACNA1S	NM_000069.3(CACNA1S):c.542-13C>T	noncoding	Benign
1	201091963	G	A	G201091963A	CACNA1S	NM_000069.3(CACNA1S):c.541+9C>T	noncoding	Benign/Likely_benign
1	201092011	G	A	G201092011A	CACNA1S	NM_000069.3(CACNA1S):c.502C>T:p.Arg168Ter	coding	Pathogenic/Likely_pathogenic
1	201092068	T	C	T201092068C	CACNA1S	NM_000069.3(CACNA1S):c.445A>G:p.Thr149Ala	coding	Benign
1	201092128	G	A	G201092128A	CACNA1S	NM_000069.3(CACNA1S):c.399-14C>T	noncoding	Benign
1	201093733	T	C	T201093733C	CACNA1S	NM_000069.3(CACNA1S):c.398+149A>G	noncoding	Benign
1	201093886	G	T	G201093886T	CACNA1S	NM_000069.3(CACNA1S):c.394C>A:p.Leu132Met	coding	Benign/Likely_benign
1	201093897	G	C	G201093897C	CACNA1S	NM_000069.3(CACNA1S):c.383C>G:p.Thr128Ser	coding	Benign/Likely_benign
1	201093911	A	G	A201093911G	CACNA1S	NM_000069.3(CACNA1S):c.369T>C:p.Asn123=	coding	Benign/Likely_benign
1	201093935	G	A	G201093935A	CACNA1S	NM_000069.3(CACNA1S):c.345C>T:p.Asp115=	coding	Benign/Likely_benign
1	201093956	G	A	G201093956A	CACNA1S	NM_000069.3(CACNA1S):c.324C>T:p.Tyr108=	coding	Benign/Likely_benign
1	201093983	A	T	A201093983T	CACNA1S	NM_000069.3(CACNA1S):c.297T>A:p.Ile99=	coding	Benign/Likely_benign
1	201109893	A	G	A201109893G	CACNA1S	NM_000069.3(CACNA1S):c.258+271T>C	noncoding	Benign
1	201109960	G	A	G201109960A	CACNA1S	NM_000069.3(CACNA1S):c.258+204C>T	noncoding	Benign
1	201110107	C	T	C201110107T	CACNA1S	NM_000069.3(CACNA1S):c.258+57G>A	noncoding	Benign
1	201110170	G	A	G201110170A	CACNA1S	NM_000069.3(CACNA1S):c.252C>T:p.Leu84=	coding	Benign/Likely_benign
1	201110197	C	T	C201110197T	CACNA1S	NM_000069.3(CACNA1S):c.225G>A:p.Pro75=	coding	Benign
1	201110216	G	C	G201110216C	CACNA1S	NM_000069.3(CACNA1S):c.206C>G:p.Ala69Gly	coding	Benign
1	201110257	C	T	C201110257T	CACNA1S	NM_000069.3(CACNA1S):c.165G>A:p.Thr55=	coding	Benign/Likely_benign
1	201110330	T	A	T201110330A	CACNA1S	NM_000069.3(CACNA1S):c.153-61A>T	noncoding	Benign
1	201110435	C	T	C201110435T	CACNA1S	NM_000069.3(CACNA1S):c.153-166G>A	noncoding	Benign
1	201110462	C	A	C201110462A	CACNA1S	NM_000069.3(CACNA1S):c.153-193G>T	noncoding	Benign
1	201110590	C	T	C201110590T	CACNA1S	NM_000069.3(CACNA1S):c.153-321G>A	noncoding	Benign
1	201111889	A	G	A201111889G	CACNA1S	NM_000069.3(CACNA1S):c.152+299T>C	noncoding	Benign
1	201112132	C	T	C201112132T	CACNA1S	NM_000069.3(CACNA1S):c.152+56G>A	noncoding	Benign
1	201112171	C	G	C201112171G	CACNA1S	NM_000069.3(CACNA1S):c.152+17G>C	noncoding	Benign
1	201112321	G	A	G201112321A	CACNA1S	NM_000069.3(CACNA1S):c.19C>T:p.Gln7Ter	coding	Pathogenic
1	201112407	A	G	A201112407G	CACNA1S	NM_000069.3(CACNA1S):c.-68T>C	noncoding	Benign
1	201112422	G	A	G201112422A	CACNA1S	NM_000069.3(CACNA1S):c.-83C>T	noncoding	Benign
1	201112570	T	C	T201112570C	CACNA1S	NM_000069.2(CACNA1S):c.-231A>G	noncoding	Benign
1	201112649	C	G	C201112649G	CACNA1S	NC_000001.11:g.201112649C>G	noncoding	Benign
1	201112815	C	G	C201112815G	CACNA1S	NC_000001.11:g.201112815C>G	noncoding	Benign
1	201112815	C	T	C201112815T	CACNA1S	NM_000069.2(CACNA1S):c.-476G>A	noncoding	Benign
1	201283573	A	T	A201283573T	PKP1	NM_001005337.3(PKP1):c.-130A>T	noncoding	Benign
1	201283617	C	A	C201283617A	PKP1	NM_001005337.3(PKP1):c.-86C>A	noncoding	Benign
1	201283738	C	T	C201283738T	PKP1	NM_001005337.3(PKP1):c.36C>T:p.Tyr12=	coding	Benign
1	201294033	A	G	A201294033G	PKP1	NM_001005337.3(PKP1):c.294A>G:p.Ser98=	coding	Benign/Likely_benign
1	201313206	G	A	G201313206A	PKP1	NM_001005337.3(PKP1):c.347G>A:p.Arg116His	coding	Benign
1	201313341	G	A	G201313341A	PKP1	NM_001005337.3(PKP1):c.482G>A:p.Cys161Tyr	coding	Benign
1	201313402	G	A	G201313402A	PKP1	NM_001005337.3(PKP1):c.543G>A:p.Gln181=	coding	Benign
1	201313445	A	G	A201313445G	PKP1	NM_001005337.3(PKP1):c.586A>G:p.Ile196Val	coding	Benign
1	201316584	C	T	C201316584T	PKP1	NM_001005337.3(PKP1):c.733C>T:p.Leu245=	coding	Benign
1	201316631	G	A	G201316631A	PKP1	NM_001005337.3(PKP1):c.780G>A:p.Lys260=	coding	Benign
1	201317635	C	T	C201317635T	PKP1	NM_001005337.3(PKP1):c.910C>T:p.Gln304Ter	coding	Pathogenic
1	201317643	C	T	C201317643T	PKP1	NM_001005337.3(PKP1):c.918C>T:p.Ala306=	coding	Benign
1	201317733	C	T	C201317733T	PKP1	NM_001005337.3(PKP1):c.1008C>T:p.Ser336=	coding	Benign/Likely_benign
1	201320265	A	G	A201320265G	PKP1	NM_001005337.3(PKP1):c.1233-2A>G	noncoding	Pathogenic
1	201320265	A	T	A201320265T	PKP1	NM_001005337.3(PKP1):c.1233-2A>T	noncoding	Pathogenic
1	201320294	C	T	C201320294T	PKP1	NM_001005337.3(PKP1):c.1260C>T:p.Arg420=	coding	Benign
1	201320359	C	T	C201320359T	PKP1	NM_001005337.3(PKP1):c.1325C>T:p.Ala442Val	coding	Benign
1	201322998	G	T	G201322998T	PKP1	NM_001005337.3(PKP1):c.1504-15G>T	noncoding	Benign
1	201324489	G	A	G201324489A	PKP1	NM_001005337.3(PKP1):c.1742G>A:p.Arg581His	coding	Benign
1	201324587	G	A	G201324587A	PKP1	NM_001005337.3(PKP1):c.1834+6G>A	noncoding	Benign
1	201324946	C	T	C201324946T	PKP1	NM_001005337.3(PKP1):c.1840C>T:p.Gln614Ter	coding	Pathogenic
1	201325128	G	A	G201325128A	PKP1	NM_001005337.3(PKP1):c.2021+1G>A	coding	Pathogenic
1	201325782	C	T	C201325782T	PKP1	NM_001005337.3(PKP1):c.2050C>T:p.Arg684Trp	coding	Benign
1	201330192	G	A	G201330192A	PKP1	NM_001005337.3(PKP1):c.*151G>A	noncoding	Benign
1	201330233	G	A	G201330233A	PKP1	NM_001005337.3(PKP1):c.*192G>A	noncoding	Benign
1	201330263	G	C	G201330263C	PKP1	NM_001005337.3(PKP1):c.*222G>C	noncoding	Benign
1	201330342	A	C	A201330342C	PKP1	NM_001005337.3(PKP1):c.*301A>C	noncoding	Benign
1	201330620	G	A	G201330620A	PKP1	NM_001005337.3(PKP1):c.*579G>A	noncoding	Benign
1	201330657	A	C	A201330657C	PKP1	NM_001005337.3(PKP1):c.*616A>C	noncoding	Benign
1	201330714	G	T	G201330714T	PKP1	NM_001005337.3(PKP1):c.*673G>T	noncoding	Benign
1	201330724	A	G	A201330724G	PKP1	NM_001005337.3(PKP1):c.*683A>G	noncoding	Benign
1	201330750	G	A	G201330750A	PKP1	NM_001005337.3(PKP1):c.*709G>A	noncoding	Benign
1	201330772	G	A	G201330772A	PKP1	NM_001005337.3(PKP1):c.*731G>A	noncoding	Benign
1	201330897	C	T	C201330897T	PKP1	NM_001005337.3(PKP1):c.*856C>T	noncoding	Benign
1	201330905	G	T	G201330905T	PKP1	NM_001005337.3(PKP1):c.*864G>T	noncoding	Benign
1	201330965	T	C	T201330965C	PKP1	NM_001005337.3(PKP1):c.*924T>C	noncoding	Benign
1	201331714	T	C	T201331714C	PKP1	NM_001005337.3(PKP1):c.*1673T>C	noncoding	Benign
1	201331730	C	A	C201331730A	PKP1	NM_001005337.3(PKP1):c.*1689C>A	noncoding	Benign
1	201331925	G	A	G201331925A	PKP1	NM_001005337.3(PKP1):c.*1884G>A	noncoding	Benign
1	201331983	A	C	A201331983C	PKP1	NM_001005337.3(PKP1):c.*1942A>C	noncoding	Benign
1	201332403	C	T	C201332403T	PKP1	NM_001005337.3(PKP1):c.*2362C>T	noncoding	Benign
1	201332546	C	G	C201332546G	PKP1	NM_001005337.3(PKP1):c.*2505C>G	noncoding	Benign
1	201332568	G	A	G201332568A	PKP1	NM_001005337.3(PKP1):c.*2527G>A	noncoding	Benign
1	201332583	G	A	G201332583A	PKP1	NM_001005337.3(PKP1):c.*2542G>A	noncoding	Benign
1	201332745	A	G	A201332745G	PKP1	NM_001005337.3(PKP1):c.*2704A>G	noncoding	Benign
1	201332778	C	G	C201332778G	PKP1	NM_001005337.3(PKP1):c.*2737C>G	noncoding	Benign
1	201332793	G	A	G201332793A	PKP1	NM_001005337.3(PKP1):c.*2752G>A	noncoding	Benign
1	201332891	C	A	C201332891A	PKP1	NM_001005337.3(PKP1):c.*2850C>A	noncoding	Benign
1	201359216	C	T	C201359216T	TNNT2	NM_001276345.2(TNNT2):c.891G>A:p.Trp297Ter	coding	Pathogenic/Likely_pathogenic
1	201359217	C	T	C201359217T	TNNT2	NM_001276345.2(TNNT2):c.890G>A:p.Trp297Ter	coding	Pathogenic/Likely_pathogenic
1	201359256	C	A	C201359256A	TNNT2	NM_000364.4(TNNT2):c.843-1G>T	coding	Pathogenic
1	201359274	G	A	G201359274A	TNNT2	NM_001276345.2(TNNT2):c.852-19C>T	noncoding	Benign
1	201359601	G	A	G201359601A	TNNT2	NM_001276345.2(TNNT2):c.851+22C>T	noncoding	Benign
1	201359622	C	T	C201359622T	TNNT2	NM_001276345.2(TNNT2):c.851+1G>A	noncoding	Pathogenic
1	201359627	T	C	T201359627C	TNNT2	NM_000364.4(TNNT2):c.838A>G:p.Lys280Glu	coding	Pathogenic
1	201359636	C	T	C201359636T	TNNT2	NM_001276345.2(TNNT2):c.838G>A:p.Asp280Asn	coding	Pathogenic
1	201359696	G	A	G201359696A	TNNT2	NM_001276345.2(TNNT2):c.811-33C>T	noncoding	Benign
1	201359785	G	C	G201359785C	TNNT2	NM_001276345.2(TNNT2):c.811-122C>G	noncoding	Benign
1	201361238	G	C	G201361238C	TNNT2	NM_001276345.2(TNNT2):c.810+41C>G	noncoding	Benign
1	201361301	T	C	T201361301C	TNNT2	NM_001276345.2(TNNT2):c.788A>G:p.Lys263Arg	coding	Benign/Likely_benign
1	201361455	A	G	A201361455G	TNNT2	NM_001276345.2(TNNT2):c.720-86T>C	noncoding	Benign
1	201361601	G	A	G201361601A	TNNT2	NM_001276345.2(TNNT2):c.720-232C>T	noncoding	Benign
1	201361988	C	A	C201361988A	TNNT2	NM_001276345.2(TNNT2):c.644G>T:p.Arg215Leu	coding	Pathogenic
1	201362103	G	A	G201362103A	TNNT2	NM_001276345.2(TNNT2):c.610-81C>T	noncoding	Benign
1	201362112	C	T	C201362112T	TNNT2	NM_001276345.2(TNNT2):c.610-90G>A	coding	Benign
1	201362128	G	A	G201362128A	TNNT2	NM_001276345.2(TNNT2):c.610-106C>T	noncoding	Benign
1	201362207	A	G	A201362207G	TNNT2	NM_001276345.2(TNNT2):c.609+179T>C	noncoding	Benign
1	201362426	T	G	T201362426G	TNNT2	NM_001276345.2(TNNT2):c.601-32A>C	noncoding	Benign
1	201362536	C	A	C201362536A	TNNT2	NM_001276345.2(TNNT2):c.601-142G>T	noncoding	Benign
1	201363330	G	A	G201363330A	TNNT2	NM_001276345.2(TNNT2):c.566C>T:p.Ser189Phe	coding	Pathogenic/Likely_pathogenic
1	201363348	C	A	C201363348A	TNNT2	NM_001276345.2(TNNT2):c.548G>T:p.Arg183Leu	coding	Pathogenic
1	201363348	C	T	C201363348T	TNNT2	NM_001276345.2(TNNT2):c.548G>A:p.Arg183Gln	coding	Pathogenic/Likely_pathogenic
1	201363349	G	A	G201363349A	TNNT2	NM_001276345.2(TNNT2):c.547C>T:p.Arg183Trp	coding	Pathogenic
1	201363374	G	A	G201363374A	TNNT2	NM_001276345.2(TNNT2):c.522C>T:p.Asn174=	coding	Benign/Likely_benign
1	201363680	A	T	A201363680T	TNNT2	NM_001276345.2(TNNT2):c.490-274T>A	noncoding	Benign
1	201364313	C	G	C201364313G	TNNT2	NM_001276345.2(TNNT2):c.474G>C:p.Arg158=	coding	Benign/Likely_benign
1	201364336	G	A	G201364336A	TNNT2	NM_001276345.2(TNNT2):c.451C>T:p.Arg151Trp	coding	Pathogenic
1	201364336	G	T	G201364336T	TNNT2	NM_001276345.2(TNNT2):c.451C>A:p.Arg151=	coding	Benign/Likely_benign
1	201364365	C	T	C201364365T	TNNT2	NM_001276345.2(TNNT2):c.422G>A:p.Arg141Gln	coding	Pathogenic
1	201364366	G	A	G201364366A	TNNT2	NM_001276345.2(TNNT2):c.421C>T:p.Arg141Trp	coding	Pathogenic/Likely_pathogenic
1	201364369	G	A	G201364369A	TNNT2	NM_001276345.2(TNNT2):c.418C>T:p.Arg140Cys	coding	Pathogenic/Likely_pathogenic
1	201364575	C	T	C201364575T	TNNT2	NM_001276345.2(TNNT2):c.412-200G>A	noncoding	Benign
1	201365242	A	C	A201365242C	TNNT2	NM_001276345.2(TNNT2):c.360T>G:p.Phe120Leu	coding	Pathogenic/Likely_pathogenic
1	201365244	A	T	A201365244T	TNNT2	NM_001276345.2(TNNT2):c.358T>A:p.Phe120Ile	coding	Pathogenic
1	201365253	C	A	C201365253A	TNNT2	NM_000364.4(TNNT2):c.349G>T:p.Glu117Ter	coding	Pathogenic
1	201365254	G	A	G201365254A	TNNT2	NM_001276345.2(TNNT2):c.348C>T:p.Ile116=	coding	Benign/Likely_benign
1	201365286	C	T	C201365286T	TNNT2	NM_001276345.2(TNNT2):c.316G>A:p.Glu106Lys	coding	Pathogenic
1	201365291	C	A	C201365291A	TNNT2	NM_001276345.2(TNNT2):c.311G>T:p.Arg104Leu	coding	Pathogenic/Likely_pathogenic
1	201365291	C	T	C201365291T	TNNT2	NM_001276345.2(TNNT2):c.311G>A:p.Arg104His	coding	Pathogenic
1	201365292	G	A	G201365292A	TNNT2	NM_001276345.2(TNNT2):c.310C>T:p.Arg104Cys	coding	Pathogenic/Likely_pathogenic
1	201365297	C	A	C201365297A	TNNT2	NM_000364.4(TNNT2):c.305G>T:p.Arg102Leu	coding	Pathogenic
1	201365297	C	T	C201365297T	TNNT2	NM_001276345.2(TNNT2):c.305G>A:p.Arg102Gln	coding	Pathogenic/Likely_pathogenic
1	201365298	G	A	G201365298A	TNNT2	NM_001276345.2(TNNT2):c.304C>T:p.Arg102Trp	coding	Pathogenic
1	201365326	G	A	G201365326A	TNNT2	NM_001276345.2(TNNT2):c.295-19C>T	noncoding	Benign
1	201365603	C	T	C201365603T	TNNT2	NM_001276345.2(TNNT2):c.294+7G>A	noncoding	Benign/Likely_benign
1	201365630	C	T	C201365630T	TNNT2	NM_001276345.2(TNNT2):c.274G>A:p.Gly92Arg	coding	Pathogenic/Likely_pathogenic
1	201365635	G	A	G201365635A	TNNT2	NM_000364.4(TNNT2):c.269C>T:p.Pro90Leu	coding	Pathogenic
1	201365638	A	T	A201365638T	TNNT2	NM_001276345.2(TNNT2):c.266T>A:p.Ile89Asn	coding	Pathogenic
1	201365667	C	T	C201365667T	TNNT2	NM_001276345.2(TNNT2):c.237G>A:p.Ser79=	coding	Benign/Likely_benign
1	201366521	C	T	C201366521T	TNNT2	NM_001276345.2(TNNT2):c.233+317G>A	noncoding	Benign
1	201366900	G	C	G201366900C	TNNT2	NM_001276345.2(TNNT2):c.200-29C>G	noncoding	Benign
1	201367513	G	A	G201367513A	TNNT2	NM_001276345.2(TNNT2):c.199+258C>T	noncoding	Benign
1	201367856	C	T	C201367856T	TNNT2	NM_001276345.2(TNNT2):c.164-50G>A	noncoding	Benign
1	201368042	A	G	A201368042G	TNNT2	NM_001276345.2(TNNT2):c.163+120T>C	noncoding	Benign
1	201368150	C	T	C201368150T	TNNT2	NM_001276345.2(TNNT2):c.163+12G>A	noncoding	Benign/Likely_benign
1	201368211	C	T	C201368211T	TNNT2	NM_001276345.2(TNNT2):c.114G>A:p.Ala38=	coding	Benign/Likely_benign
1	201369848	G	A	G201369848A	TNNT2	NM_001276345.2(TNNT2):c.68-3C>T	noncoding	Benign
1	201369850	G	A	G201369850A	TNNT2	NM_001276345.2(TNNT2):c.68-5C>T	noncoding	Benign
1	201369853	T	C	T201369853C	TNNT2	NM_001276345.2(TNNT2):c.68-8A>G	noncoding	Benign
1	201369916	G	A	G201369916A	TNNT2	NM_001276345.2(TNNT2):c.68-71C>T	noncoding	Benign
1	201372175	C	T	C201372175T	TNNT2	NM_001276345.2(TNNT2):c.42-20G>A	noncoding	Benign/Likely_benign
1	201373428	C	T	C201373428T	TNNT2	NM_001276345.2(TNNT2):c.-14-160G>A	noncoding	Benign
1	201373432	T	C	T201373432C	TNNT2	NM_001276345.2(TNNT2):c.-14-164A>G	noncoding	Benign
1	201373528	A	G	A201373528G	TNNT2	NM_001276345.2(TNNT2):c.-14-260T>C	noncoding	Benign
1	201386371	C	T	C201386371T	LAD1	NM_005558.4(LAD1):c.990G>A:p.Pro330=	coding	Benign
1	201386497	C	T	C201386497T	LAD1	NM_005558.4(LAD1):c.864G>A:p.Glu288=	coding	Benign
1	201386770	G	A	G201386770A	LAD1	NM_005558.4(LAD1):c.591C>T:p.Ser197=	coding	Benign
1	201387170	C	T	C201387170T	LAD1	NM_005558.4(LAD1):c.191G>A:p.Ser64Asn	coding	Benign
1	201488879	C	T	C201488879T	CSRP1	NM_004078.3(CSRP1):c.387G>A:p.Ala129=	coding	Benign
1	201490271	G	A	G201490271A	CSRP1	NM_004078.3(CSRP1):c.186C>T:p.Tyr62=	coding	Benign
1	201496222	T	C	T201496222C	CSRP1	NM_004078.3(CSRP1):c.82A>G:p.Asn28Asp	coding	Benign
1	201648725	C	A	C201648725A	NAV1	NM_020443.4(NAV1):c.57C>A:p.Gly19=	coding	Benign
1	201648912	G	A	G201648912A	NAV1	NM_020443.4(NAV1):c.244G>A:p.Ala82Thr	coding	Benign
1	201781179	A	C	A201781179C	NAV1	NM_020443.4(NAV1):c.1533A>C:p.Ser511=	coding	Benign
1	201782390	C	G	C201782390G	NAV1	NM_020443.4(NAV1):c.1878C>G:p.Ala626=	coding	Benign
1	201782861	C	A	C201782861A	NAV1	NM_020443.4(NAV1):c.2349C>A:p.Thr783=	coding	Benign
1	201793800	G	T	G201793800T	NAV1	NM_020443.4(NAV1):c.3330G>T:p.Leu1110=	coding	Benign
1	201808425	G	A	G201808425A	NAV1	NM_020443.4(NAV1):c.3853G>A:p.Ala1285Thr	coding	Benign
1	201808562	C	T	C201808562T	NAV1	NM_020443.4(NAV1):c.3990C>T:p.Asn1330=	coding	Benign
1	201810062	T	G	T201810062G	NAV1	NM_020443.4(NAV1):c.4518T>G:p.Pro1506=	coding	Benign
1	201810540	G	A	G201810540A	NAV1	NM_020443.4(NAV1):c.4579G>A:p.Val1527Ile	coding	Benign
1	201810549	C	T	C201810549T	NAV1	NM_020443.4(NAV1):c.4588C>T:p.Leu1530=	coding	Benign
1	201817285	G	C	G201817285C	NAV1	NM_020443.4(NAV1):c.5538G>C:p.Leu1846=	coding	Benign
1	201866778	G	A	G201866778A	IPO9	NM_018085.5(IPO9):c.1674G>A:p.Gln558=	coding	Benign
1	201899905	G	A	G201899905A	LMOD1	NM_012134.3(LMOD1):c.1108C>T:p.Arg370Ter	coding	Pathogenic
1	201900588	C	T	C201900588T	LMOD1	NM_012134.3(LMOD1):c.425G>A:p.Gly142Asp	coding	Benign
1	201946202	C	A	C201946202A	LMOD1	NM_012134.3(LMOD1):c.139G>T:p.Val47Leu	coding	Benign
1	201946208	C	T	C201946208T	LMOD1	NM_012134.3(LMOD1):c.133G>A:p.Val45Ile	coding	Benign
1	201989008	G	A	G201989008A	RNPEP	NM_020216.4(RNPEP):c.552G>A:p.Thr184=	coding	Benign
1	201997413	C	T	C201997413T	RNPEP	NM_020216.4(RNPEP):c.949C>T:p.Arg317Cys	coding	Benign
1	202012105	T	C	T202012105C	ELF3	NM_004433.5(ELF3):c.312T>C:p.Asn104=	coding	Benign
1	202135202	C	T	C202135202T	ARL8A	NM_138795.4(ARL8A):c.459G>A:p.Gln153=	coding	Benign
1	202135488	T	C	T202135488C	ARL8A	NM_138795.4(ARL8A):c.411A>G:p.Ala137=	coding	Benign
1	202304570	G	A	G202304570A	LGR6	NM_001017403.1(LGR6):c.1010G>A:p.Arg337His	coding	Benign
1	202310191	C	G	C202310191G	LGR6	NM_001017403.1(LGR6):c.1407-6C>G	noncoding	Benign
1	202318637	C	T	C202318637T	LGR6	NM_001017403.1(LGR6):c.2334C>T:p.Leu778=	coding	Benign
1	202318836	G	A	G202318836A	LGR6	NM_001017403.1(LGR6):c.2533G>A:p.Ala845Thr	coding	Benign
1	202318901	T	C	T202318901C	LGR6	NM_001017403.1(LGR6):c.2598T>C:p.Ser866=	coding	Benign
1	202334984	C	T	C202334984T	UBE2T	NM_014176.4(UBE2T):c.179+5G>A	noncoding	Pathogenic
1	202335751	G	C	G202335751C	UBE2T	NM_014176.4(UBE2T):c.4C>G:p.Gln2Glu	coding	Pathogenic
1	202599313	T	G	T202599313G	SYT2	NM_177402.5(SYT2):c.958A>C:p.Arg320=	coding	Benign
1	202599351	T	G	T202599351G	SYT2	NM_177402.5(SYT2):c.920A>C:p.Asp307Ala	coding	Pathogenic
1	202601947	C	T	C202601947T	SYT2	NM_177402.5(SYT2):c.744G>A:p.Val248=	coding	Benign
1	202602492	G	A	G202602492A	SYT2	NM_177402.5(SYT2):c.519C>T:p.Gly173=	coding	Benign
1	202603113	G	A	G202603113A	SYT2	NM_177402.5(SYT2):c.351C>T:p.Asp117=	coding	Benign
1	202729851	T	C	T202729851C	KDM5B	NM_006618.5(KDM5B):c.4353A>G:p.Leu1451=	coding	Benign
1	202730013	T	A	T202730013A	KDM5B	NM_006618.5(KDM5B):c.4191A>T:p.Arg1397=	coding	Benign
1	202730940	C	T	C202730940T	KDM5B	NM_006618.5(KDM5B):c.4145G>A:p.Arg1382Gln	coding	Benign
1	202733491	C	T	C202733491T	KDM5B	NM_006618.5(KDM5B):c.3819G>A:p.Gly1273=	coding	Benign
1	202736273	A	G	A202736273G	KDM5B	NM_006618.5(KDM5B):c.3204T>C:p.Ala1068=	coding	Benign
1	202741648	C	T	C202741648T	KDM5B	NM_006618.5(KDM5B):c.2664G>A:p.Ala888=	coding	Benign
1	202742649	G	T	G202742649T	KDM5B	NM_006618.5(KDM5B):c.2474+6C>A	noncoding	Benign
1	202746142	C	T	C202746142T	KDM5B	NM_006618.5(KDM5B):c.2198G>A:p.Arg733Gln	coding	Benign
1	202760508	A	G	A202760508G	KDM5B	NM_006618.5(KDM5B):c.984T>C:p.Asp328=	coding	Benign
1	202764070	G	A	G202764070A	KDM5B	NM_006618.5(KDM5B):c.787C>T:p.Pro263Ser	coding	Pathogenic
1	202773143	A	C	A202773143C	KDM5B	NM_006618.5(KDM5B):c.551T>G:p.Leu184Ter	coding	Pathogenic
1	202881095	G	A	G202881095A	RABIF	NM_002871.5(RABIF):c.255C>T:p.Asp85=	coding	Benign
1	202950939	G	A	G202950939A	ADIPOR1	NM_015999.6(ADIPOR1):c.132C>T:p.Asn44=	coding	Benign
1	203043411	A	G	A203043411G	PPFIA4	NM_001304331.2(PPFIA4):c.249A>G:p.Leu83=	coding	Benign
1	203071727	G	A	G203071727A	PPFIA4	NM_001304331.2(PPFIA4):c.3360G>A:p.Leu1120=	coding	Benign
1	203085522	C	T	C203085522T	MYOG	NM_002479.6(MYOG):c.440G>A:p.Arg147His	coding	Benign
1	203085599	G	T	G203085599T	MYOG	NM_002479.6(MYOG):c.363C>A:p.Ile121=	coding	Benign
1	203085605	C	T	C203085605T	MYOG	NM_002479.6(MYOG):c.357G>A:p.Val119=	coding	Benign
1	203085724	C	T	C203085724T	MYOG	NM_002479.6(MYOG):c.238G>A:p.Val80Met	coding	Benign
1	203085857	G	A	G203085857A	MYOG	NM_002479.6(MYOG):c.105C>T:p.Tyr35=	coding	Benign
1	203128847	G	A	G203128847A	ADORA1	NM_000674.3(ADORA1):c.6G>A:p.Pro2=	coding	Benign
1	203165504	C	T	C203165504T	ADORA1	NM_000674.3(ADORA1):c.585C>T:p.Leu195=	coding	Benign
1	203169018	G	A	G203169018A	MYBPH	NM_004997.3(MYBPH):c.1305C>T:p.Gly435=	coding	Benign
1	203171426	C	G	C203171426G	MYBPH	NM_004997.3(MYBPH):c.750G>C:p.Val250=	coding	Benign
1	203180641	C	T	C203180641T	CHI3L1	NM_001276.4(CHI3L1):c.723G>A:p.Val241=	coding	Benign
1	203183758	G	T	G203183758T	CHI3L1	NM_001276.4(CHI3L1):c.348C>A:p.Arg116=	coding	Benign
1	203216355	A	C	A203216355C	CHIT1	NM_003465.3(CHIT1):c.*534T>G	noncoding	Benign
1	203216965	G	C	G203216965C	CHIT1	NM_003465.3(CHIT1):c.1325C>G:p.Ala442Gly	coding	Benign
1	203217835	C	T	C203217835T	CHIT1	NM_003465.3(CHIT1):c.1060G>A:p.Gly354Arg	coding	Benign/Likely_benign
1	203219814	G	T	G203219814T	CHIT1	NM_003465.3(CHIT1):c.765C>A:p.Thr255=	coding	Benign
1	203219815	G	C	G203219815C	CHIT1	NM_003465.3(CHIT1):c.764C>G:p.Thr255Ser	coding	Benign
1	203225058	C	T	C203225058T	CHIT1	NM_003465.3(CHIT1):c.304G>A:p.Gly102Ser	coding	Benign
1	203225807	C	T	C203225807T	CHIT1	NM_003465.3(CHIT1):c.119G>A:p.Arg40His	coding	Benign
1	203483895	G	A	G203483895A	PRELP	NM_002725.4(PRELP):c.711G>A:p.Pro237=	coding	Benign
1	203486710	C	A	C203486710A	PRELP	NM_002725.4(PRELP):c.978C>A:p.Ile326=	coding	Benign
1	203497062	C	T	C203497062T	OPTC	NM_014359.4(OPTC):c.317C>T:p.Thr106Met	coding	Benign
1	203502984	T	C	T203502984C	OPTC	NM_014359.4(OPTC):c.803T>C:p.Leu268Pro	coding	Benign
1	203683224	C	A	C203683224A	ATP2B4	NM_001684.5(ATP2B4):c.19C>A:p.Arg7Ser	coding	Benign
1	203700885	G	T	G203700885T	ATP2B4	NM_001684.5(ATP2B4):c.863G>T:p.Gly288Val	coding	Benign
1	203703739	T	C	T203703739C	ATP2B4	NM_001684.5(ATP2B4):c.1025T>C:p.Val342Ala	coding	Benign
1	203708092	C	T	C203708092T	ATP2B4	NM_001684.5(ATP2B4):c.1545C>T:p.Thr515=	coding	Benign
1	203709408	T	C	T203709408C	ATP2B4	NM_001684.5(ATP2B4):c.1665T>C:p.Asn555=	coding	Benign
1	203710916	A	T	A203710916T	ATP2B4	NM_001684.5(ATP2B4):c.1839A>T:p.Pro613=	coding	Benign
1	203711045	T	C	T203711045C	ATP2B4	NM_001684.5(ATP2B4):c.1968T>C:p.Asn656=	coding	Benign
1	203711058	G	A	G203711058A	ATP2B4	NM_001684.5(ATP2B4):c.1981G>A:p.Glu661Lys	coding	Benign
1	203727385	T	C	T203727385C	ATP2B4	NM_001684.5(ATP2B4):c.3133-10T>C	noncoding	Benign
1	203727420	C	T	C203727420T	ATP2B4	NM_001684.5(ATP2B4):c.3158C>T:p.Ser1053Phe	coding	Benign
1	203727481	C	T	C203727481T	ATP2B4	NM_001684.5(ATP2B4):c.3219C>T:p.Ala1073=	coding	Benign
1	203727553	G	T	G203727553T	ATP2B4	NM_001684.5(ATP2B4):c.3291G>T:p.Leu1097=	coding	Benign
1	203771380	C	T	C203771380T	LAX1	NM_017773.4(LAX1):c.213C>T:p.Tyr71=	coding	Benign
1	203771422	C	A	C203771422A	LAX1	NM_017773.4(LAX1):c.255C>A:p.Thr85=	coding	Benign
1	203852165	C	G	C203852165G	ZC3H11A	NM_001376342.1(ZC3H11A):c.2199C>G:p.Ser733=	coding	Benign
1	203861660	A	G	A203861660G	SNRPE	NM_003094.4(SNRPE):c.1A>G:p.Met1Val	coding	Pathogenic
1	203863714	G	A	G203863714A	SNRPE	NM_003094.4(SNRPE):c.133G>A:p.Gly45Ser	coding	Pathogenic
1	204141373	A	C	A204141373C	ETNK2	NM_018208.4(ETNK2):c.726T>G:p.Pro242=	coding	Benign
1	204155078	G	A	G204155078A	REN	NM_000537.4(REN):c.1159C>T:p.Arg387Ter	coding	Pathogenic
1	204156184	C	T	C204156184T	REN	NM_000537.4(REN):c.954G>A:p.Leu318=	coding	Benign
1	204159399	C	T	C204159399T	REN	NM_000537.4(REN):c.689G>A:p.Arg230Lys	coding	Pathogenic
1	204159439	C	T	C204159439T	REN	NM_000537.4(REN):c.649G>A:p.Gly217Arg	coding	Benign
1	204160543	A	C	A204160543C	REN	NM_000537.4(REN):c.492+17T>G	noncoding	Benign
1	204160557	T	C	T204160557C	REN	NM_000537.4(REN):c.492+3A>G	noncoding	Benign
1	204160648	G	T	G204160648T	REN	NM_000537.4(REN):c.404C>A:p.Ser135Tyr	coding	Pathogenic
1	204162058	T	G	T204162058G	REN	NM_000537.4(REN):c.204A>C:p.Thr68=	coding	Benign
1	204162117	G	A	G204162117A	REN	NM_000537.4(REN):c.145C>T:p.Arg49Ter	coding	Pathogenic
1	204162135	G	A	G204162135A	REN	NM_000537.4(REN):c.127C>T:p.Arg43Ter	coding	Pathogenic
1	204166247	A	C	A204166247C	REN	NM_000537.4(REN):c.47T>G:p.Leu16Arg	coding	Pathogenic
1	204166272	G	C	G204166272C	REN	NM_000537.4(REN):c.22C>G:p.Pro8Ala	coding	Benign/Likely_benign
1	204166285	T	A	T204166285A	REN	NM_000537.4(REN):c.9A>T:p.Gly3=	coding	Benign
1	204190562	G	C	G204190562C	KISS1	NM_002256.4(KISS1):c.339C>G:p.Asn113Lys	coding	Pathogenic
1	204190573	G	T	G204190573T	KISS1	NM_002256.4(KISS1):c.328C>A:p.Pro110Thr	coding	Benign
1	204190633	G	C	G204190633C	KISS1	NM_002256.4(KISS1):c.268C>G:p.His90Asp	coding	Benign/Likely_benign
1	204193014	G	T	G204193014T	KISS1	NM_002256.4(KISS1):c.-38-100C>A	noncoding	Benign
1	204196426	C	T	C204196426T	KISS1	NM_002256.4(KISS1):c.-89G>A	noncoding	Benign
1	204196853	A	G	A204196853G	KISS1	NC_000001.11:g.204196853A>G	noncoding	Benign
1	204201745	G	T	G204201745T	GOLT1A	NM_198447.2(GOLT1A):c.184C>A:p.Arg62=	coding	Benign
1	204406262	G	A	G204406262A	PPP1R15B	NM_032833.4(PPP1R15B):c.1972C>T:p.Arg658Cys	coding	Pathogenic
1	204409526	G	C	G204409526C	PPP1R15B	NM_032833.4(PPP1R15B):c.1886C>G:p.Ser629Cys	coding	Benign
1	204410489	C	T	C204410489T	PPP1R15B	NM_032833.4(PPP1R15B):c.923G>A:p.Ser308Asn	coding	Benign
1	204410919	T	C	T204410919C	PPP1R15B	NM_032833.4(PPP1R15B):c.493A>G:p.Ser165Gly	coding	Benign
1	204410982	C	T	C204410982T	PPP1R15B	NM_032833.4(PPP1R15B):c.430G>A:p.Glu144Lys	coding	Benign
1	204410999	C	A	C204410999A	PPP1R15B	NM_032833.4(PPP1R15B):c.413G>T:p.Ser138Ile	coding	Benign
1	204424953	C	T	C204424953T	PIK3C2B	NM_002646.3(PIK3C2B):c.4804G>A:p.Val1602Ile	coding	Benign
1	204432264	G	C	G204432264C	PIK3C2B	NM_002646.3(PIK3C2B):c.4091C>G:p.Ser1364Cys	coding	Benign
1	204433901	G	A	G204433901A	PIK3C2B	NM_002646.3(PIK3C2B):c.3735C>T:p.Asn1245=	coding	Benign
1	204465212	C	T	C204465212T	PIK3C2B	NM_002646.3(PIK3C2B):c.1034+7G>A	noncoding	Benign
1	204468985	G	T	G204468985T	PIK3C2B	NM_002646.3(PIK3C2B):c.818C>A:p.Pro273His	coding	Benign
1	204469647	G	A	G204469647A	PIK3C2B	NM_002646.3(PIK3C2B):c.156C>T:p.Asn52=	coding	Benign
1	204525540	G	A	G204525540A	MDM4	NM_002393.5(MDM4):c.22G>A:p.Ala8Thr	coding	Benign
1	204530752	A	T	A204530752T	MDM4	NM_002393.5(MDM4):c.222A>T:p.Val74=	coding	Benign
1	204538313	G	A	G204538313A	MDM4	NM_002393.5(MDM4):c.511+5G>A	noncoding	Benign
1	204549118	G	A	G204549118A	MDM4	NM_002393.5(MDM4):c.909G>A:p.Glu303=	coding	Benign
1	204549613	G	A	G204549613A	MDM4	NM_002393.5(MDM4):c.1404G>A:p.Lys468=	coding	Benign
1	204619306	G	A	G204619306A	LRRN2	NM_201630.2(LRRN2):c.687C>T:p.Ser229=	coding	Benign
1	204954892	C	T	C204954892T	NFASC	NM_015090.3(NFASC):c.458C>T:p.Thr153Met	coding	Benign
1	204954911	G	A	G204954911A	NFASC	NM_015090.3(NFASC):c.477G>A:p.Pro159=	coding	Benign
1	204970635	C	T	C204970635T	NFASC	NM_015090.3(NFASC):c.1056C>T:p.Asp352=	coding	Benign
1	204970688	G	C	G204970688C	NFASC	NM_015090.3(NFASC):c.1109G>C:p.Arg370Pro	coding	Pathogenic
1	204973400	C	T	C204973400T	NFASC	NM_015090.3(NFASC):c.1293C>T:p.Asn431=	coding	Benign
1	204974774	C	T	C204974774T	NFASC	NM_015090.3(NFASC):c.1542C>T:p.Ala514=	coding	Benign
1	204975313	G	A	G204975313A	NFASC	NM_015090.3(NFASC):c.1634G>A:p.Arg545Lys	coding	Benign
1	204975326	G	A	G204975326A	NFASC	NM_015090.3(NFASC):c.1647G>A:p.Thr549=	coding	Benign
1	204975408	A	G	A204975408G	NFASC	NM_015090.3(NFASC):c.1729A>G:p.Ile577Val	coding	Benign
1	204976686	C	T	C204976686T	NFASC	NM_015090.3(NFASC):c.1755C>T:p.Asp585=	coding	Benign
1	204984059	C	T	C204984059T	NFASC	NM_001005388.2(NFASC):c.2470+2039C>T	coding	Pathogenic
1	204988640	G	C	G204988640C	NFASC	NM_015090.3(NFASC):c.2910G>C:p.Gly970=	coding	Benign
1	205009632	T	A	T205009632A	NFASC	NM_015090.3(NFASC):c.3152T>A:p.Val1051Glu	coding	Pathogenic
1	205053248	C	T	C205053248T	CNTN2	NM_005076.5(CNTN2):c.63C>T:p.Ser21=	coding	Benign
1	205057955	C	T	C205057955T	CNTN2	NM_005076.5(CNTN2):c.105C>T:p.Phe35=	coding	Benign
1	205058028	G	A	G205058028A	CNTN2	NM_005076.5(CNTN2):c.178G>A:p.Ala60Thr	coding	Benign
1	205058064	C	T	C205058064T	CNTN2	NM_005076.5(CNTN2):c.214C>T:p.Arg72Trp	coding	Benign
1	205058188	A	G	A205058188G	CNTN2	NM_005076.5(CNTN2):c.223A>G:p.Met75Val	coding	Benign
1	205058262	C	T	C205058262T	CNTN2	NM_005076.5(CNTN2):c.297C>T:p.Asn99=	coding	Benign
1	205061988	C	T	C205061988T	CNTN2	NM_005076.5(CNTN2):c.1097C>T:p.Pro366Leu	coding	Benign
1	205064368	C	T	C205064368T	CNTN2	NM_005076.5(CNTN2):c.1287C>T:p.Pro429=	coding	Benign
1	205064390	C	G	C205064390G	CNTN2	NM_005076.5(CNTN2):c.1309C>G:p.Leu437Val	coding	Benign
1	205064747	C	A	C205064747A	CNTN2	NM_005076.5(CNTN2):c.1516C>A:p.Arg506=	coding	Benign
1	205066520	C	T	C205066520T	CNTN2	NM_005076.5(CNTN2):c.1896C>T:p.Phe632=	coding	Benign
1	205066593	C	T	C205066593T	CNTN2	NM_005076.5(CNTN2):c.1969C>T:p.Arg657Trp	coding	Benign
1	205066599	A	G	A205066599G	CNTN2	NM_005076.5(CNTN2):c.1975A>G:p.Asn659Asp	coding	Benign
1	205070463	G	A	G205070463A	CNTN2	NM_005076.5(CNTN2):c.2469G>A:p.Gly823=	coding	Benign
1	205071985	G	A	G205071985A	CNTN2	NM_005076.5(CNTN2):c.2583G>A:p.Ala861=	coding	Benign
1	205073109	C	T	C205073109T	CNTN2	NM_005076.5(CNTN2):c.2886C>T:p.His962=	coding	Benign
1	205073145	T	G	T205073145G	CNTN2	NM_005076.5(CNTN2):c.2922T>G:p.Pro974=	coding	Benign
1	205073187	G	A	G205073187A	CNTN2	NM_005076.5(CNTN2):c.2964G>A:p.Gly988=	coding	Benign
1	205103941	C	T	C205103941T	RBBP5	NM_005057.4(RBBP5):c.438G>A:p.Pro146=	coding	Benign
1	205160191	G	A	G205160191A	DSTYK	NM_015375.3(DSTYK):c.2028C>T:p.Phe676=	coding	Benign
1	205161285	A	G	A205161285G	DSTYK	NM_015375.3(DSTYK):c.1921T>C:p.Cys641Arg	coding	Benign
1	205162177	G	A	G205162177A	DSTYK	NM_015375.3(DSTYK):c.1677C>T:p.Ala559=	coding	Benign
1	205163714	T	G	T205163714G	DSTYK	NM_015375.3(DSTYK):c.1557+9A>C	noncoding	Benign
1	205163738	A	G	A205163738G	DSTYK	NM_015375.3(DSTYK):c.1542T>C:p.Ser514=	coding	Benign
1	205169278	T	C	T205169278C	DSTYK	NM_015375.3(DSTYK):c.1209A>G:p.Glu403=	coding	Benign
1	205211416	C	A	C205211416A	DSTYK	NM_015375.3(DSTYK):c.120G>T:p.Arg40=	coding	Benign
1	205211450	C	T	C205211450T	DSTYK	NM_015375.3(DSTYK):c.86G>A:p.Arg29Gln	coding	Benign/Likely_benign
1	205211494	C	G	C205211494G	DSTYK	NM_015375.3(DSTYK):c.42G>C:p.Ser14=	coding	Benign
1	205211512	C	T	C205211512T	DSTYK	NM_015375.3(DSTYK):c.24G>A:p.Trp8Ter	coding	Pathogenic
1	205241925	A	G	A205241925G	TMCC2	NM_014858.4(TMCC2):c.628A>G:p.Ile210Val	coding	Benign
1	205242054	G	A	G205242054A	TMCC2	NM_014858.4(TMCC2):c.747+10G>A	noncoding	Benign
1	205269030	C	T	C205269030T	TMCC2	NM_014858.4(TMCC2):c.828C>T:p.Pro276=	coding	Benign
1	205269588	C	T	C205269588T	TMCC2	NM_014858.4(TMCC2):c.1386C>T:p.Ser462=	coding	Benign
1	205579931	C	T	C205579931T	MFSD4A	NM_181644.5(MFSD4A):c.411C>T:p.Asp137=	coding	Benign
1	205832628	C	T	C205832628T	PM20D1	NM_152491.5(PM20D1):c.1255G>A:p.Val419Ile	coding	Benign
1	205914934	T	C	T205914934C	SLC26A9	NM_052934.4(SLC26A9):c.*423A>G	coding	Benign
1	205915146	T	C	T205915146C	SLC26A9	NM_052934.4(SLC26A9):c.*211A>G	coding	Benign
1	205918853	T	C	T205918853C	SLC26A9	NM_052934.4(SLC26A9):c.2243A>G:p.His748Arg	coding	Benign
1	205920201	C	T	C205920201T	SLC26A9	NM_052934.4(SLC26A9):c.2085G>A:p.Val695=	coding	Benign
1	205921551	T	C	T205921551C	SLC26A9	NM_052934.4(SLC26A9):c.2055+15A>G	noncoding	Benign
1	206473323	C	A	C206473323A	IKBKE	NM_014002.4(IKBKE):c.87+9C>A	noncoding	Benign
1	206476338	G	A	G206476338A	IKBKE	NM_014002.4(IKBKE):c.516G>A:p.Ser172=	coding	Benign
1	206478253	C	T	C206478253T	IKBKE	NM_014002.4(IKBKE):c.906C>T:p.Thr302=	coding	Benign
1	206479084	C	G	C206479084G	IKBKE	NM_014002.4(IKBKE):c.1134C>G:p.Pro378=	coding	Benign
1	206685427	C	T	C206685427T	MAPKAPK2	NM_032960.4(MAPKAPK2):c.198C>T:p.Thr66=	coding	Benign
1	206772263	A	G	A206772263G	IL10	NM_000572.3(IL10):c.165+8T>C	noncoding	Benign
1	206775286	T	C	T206775286C	IL10	NM_153758.3(IL19):c.-35+4208T>C	noncoding	Pathogenic
1	206897861	T	C	T206897861C	IL24	NM_006850.3(IL24):c.29T>C:p.Leu10Pro	coding	Benign
1	206897862	G	T	G206897862T	IL24	NM_006850.3(IL24):c.30G>T:p.Leu10=	coding	Benign
1	206900364	A	G	A206900364G	IL24	NM_006850.3(IL24):c.303+7A>G	noncoding	Benign
1	206902976	T	G	T206902976G	IL24	NM_006850.3(IL24):c.538T>G:p.Leu180Val	coding	Benign
1	207090315	C	T	C207090315T	C4BPB	NM_001017365.3(C4BPB):c.66C>T:p.His22=	coding	Benign
1	207090354	C	T	C207090354T	C4BPB	NM_001017365.3(C4BPB):c.105C>T:p.Val35=	coding	Benign
1	207090484	A	G	A207090484G	C4BPB	NM_001017365.3(C4BPB):c.232+3A>G	noncoding	Benign
1	207096510	C	T	C207096510T	C4BPB	NM_001017365.3(C4BPB):c.410-12C>T	noncoding	Benign
1	207096513	T	C	T207096513C	C4BPB	NM_001017365.3(C4BPB):c.410-9T>C	noncoding	Benign
1	207096574	C	T	C207096574T	C4BPB	NM_001017365.3(C4BPB):c.462C>T:p.Asn154=	coding	Benign
1	207113035	C	G	C207113035G	C4BPA	NM_000715.4(C4BPA):c.10C>G:p.Pro4Ala	coding	Benign
1	207113064	A	G	A207113064G	C4BPA	NM_000715.4(C4BPA):c.39A>G:p.Arg13=	coding	Benign
1	207113122	C	G	C207113122G	C4BPA	NM_000715.4(C4BPA):c.97C>G:p.Leu33Val	coding	Benign
1	207114136	C	T	C207114136T	C4BPA	NM_000715.4(C4BPA):c.179C>T:p.Ala60Val	coding	Benign
1	207124331	T	C	T207124331C	C4BPA	NM_000715.4(C4BPA):c.671T>C:p.Ile224Thr	coding	Benign
1	207124335	T	C	T207124335C	C4BPA	NM_000715.4(C4BPA):c.675T>C:p.Gly225=	coding	Benign
1	207131555	T	C	T207131555C	C4BPA	NM_000715.4(C4BPA):c.899T>C:p.Ile300Thr	coding	Benign
1	207143827	G	A	G207143827A	C4BPA	NM_000715.4(C4BPA):c.1454G>A:p.Arg485Gln	coding	Benign
1	207322436	G	T	G207322436T	CD55	NM_000574.5(CD55):c.155G>T:p.Arg52Leu	coding	Benign
1	207324558	G	A	G207324558A	CD55	NM_000574.5(CD55):c.287-1G>A	noncoding	Pathogenic
1	207326769	C	T	C207326769T	CD55	NM_000574.5(CD55):c.596C>T:p.Ser199Leu	coding	Pathogenic
1	207331243	G	C	G207331243C	CD55	NM_000574.5(CD55):c.800G>C:p.Cys267Ser	coding	Pathogenic
1	207337388	A	G	A207337388G	CD55	NM_000574.5(CD55):c.1039A>G:p.Lys347Glu	coding	Benign
1	207339389	G	A	G207339389A	CD55	NM_000574.5(CD55):c.1061-8G>A	noncoding	Benign
1	207466667	C	G	C207466667G	CR2	NM_001006658.3(CR2):c.200C>G:p.Thr67Ser	coding	Benign
1	207466842	C	T	C207466842T	CR2	NM_001006658.2(CR2):c.375C>T:p.Asn125=	coding	Benign
1	207468543	T	A	T207468543A	CR2	NM_001006658.2(CR2):c.462T>A:p.Cys154Ter	coding	Pathogenic
1	207468705	C	A	C207468705A	CR2	NM_001006658.2(CR2):c.624C>A:p.Pro208=	coding	Benign
1	207468705	C	G	C207468705G	CR2	NM_001006658.2(CR2):c.624C>G:p.Pro208=	coding	Benign
1	207468716	G	A	G207468716A	CR2	NM_001006658.3(CR2):c.634+1G>A	coding	Pathogenic
1	207469885	T	C	T207469885C	CR2	NM_001006658.3(CR2):c.1008T>C:p.Ser336=	coding	Benign
1	207469963	A	T	A207469963T	CR2	NM_001006658.3(CR2):c.1086A>T:p.Val362=	coding	Benign
1	207470810	A	T	A207470810T	CR2	NM_001006658.3(CR2):c.1296A>T:p.Gly432=	coding	Benign
1	207470909	A	G	A207470909G	CR2	NM_001006658.2(CR2):c.1395A>G:p.Gln465=	coding	Benign
1	207472818	C	T	C207472818T	CR2	NM_001006658.2(CR2):c.1617C>T:p.Thr539=	coding	Benign
1	207472823	G	T	G207472823T	CR2	NM_001006658.2(CR2):c.1622G>T:p.Ser541Ile	coding	Benign
1	207472977	G	A	G207472977A	CR2	NM_001006658.3(CR2):c.1776G>A:p.Leu592=	coding	Benign
1	207473117	G	A	G207473117A	CR2	NM_001006658.3(CR2):c.1916G>A:p.Ser639Asn	coding	Benign
1	207473186	A	T	A207473186T	CR2	NM_001006658.3(CR2):c.1978+7A>T	noncoding	Benign
1	207473553	T	C	T207473553C	CR2	NM_001006658.3(CR2):c.1987T>C:p.Ser663Pro	coding	Benign
1	207473578	G	A	G207473578A	CR2	NM_001006658.3(CR2):c.2012G>A:p.Arg671His	coding	Benign
1	207474235	C	T	C207474235T	CR2	NM_001006658.3(CR2):c.2241-6C>T	noncoding	Benign
1	207474297	G	A	G207474297A	CR2	NM_001877.5(CR2):c.2120G>A:p.Trp707Ter	coding	Pathogenic
1	207474828	T	C	T207474828C	CR2	NM_001877.5(CR2):c.2151T>C:p.Ile717=	coding	Benign
1	207474852	T	C	T207474852C	CR2	NM_001006658.2(CR2):c.2352T>C:p.Ile784=	coding	Benign
1	207474945	A	G	A207474945G	CR2	NM_001006658.2(CR2):c.2445A>G:p.Gly815=	coding	Benign
1	207475149	T	C	T207475149C	CR2	NM_001006658.2(CR2):c.2649T>C:p.Gly883=	coding	Benign
1	207476361	G	A	G207476361A	CR2	NM_001006658.2(CR2):c.2844G>A:p.Glu948=	coding	Benign/Likely_benign
1	207480019	A	G	A207480019G	CR2	NM_001006658.3(CR2):c.3154A>G:p.Ile1052Val	coding	Benign
1	207480050	C	A	C207480050A	CR2	NM_001006658.3(CR2):c.3185C>A:p.Ala1062Glu	coding	Benign
1	207752250	C	T	C207752250T	CD46	NM_172351.3(CD46):c.38C>T:p.Ser13Phe	coding	Benign
1	207757204	T	G	T207757204G	CD46	NM_172351.3(CD46):c.286+2T>G	noncoding	Pathogenic/Likely_pathogenic
1	207759666	A	G	A207759666G	CD46	NM_172351.3(CD46):c.417A>G:p.Leu139=	coding	Benign/Likely_benign
1	207759702	C	T	C207759702T	CD46	NM_172351.3(CD46):c.453C>T:p.Ser151=	coding	Benign
1	207761377	C	T	C207761377T	CD46	NM_172351.3(CD46):c.604C>T:p.Leu202Phe	coding	Pathogenic
1	207767135	G	A	G207767135A	CD46	NM_172351.3(CD46):c.796G>A:p.Asp266Asn	coding	Benign/Likely_benign
1	207767167	G	A	G207767167A	CD46	NM_172351.3(CD46):c.828G>A:p.Trp276Ter	coding	Pathogenic
1	207767783	G	A	G207767783A	CD46	NM_172351.3(CD46):c.861G>A:p.Ser287=	coding	Benign/Likely_benign
1	207790243	C	T	C207790243T	CD46	NM_172351.3(CD46):c.1083-10C>T	noncoding	Benign
1	207793980	A	G	A207793980G	CD46	NM_172351.3(CD46):c.*503A>G	noncoding	Benign
1	207794374	T	C	T207794374C	CD46	NM_172351.3(CD46):c.*897T>C	noncoding	Benign
1	207794395	G	A	G207794395A	CD46	NM_172351.3(CD46):c.*918G>A	noncoding	Benign
1	207794912	T	C	T207794912C	CD46	NM_172351.3(CD46):c.*1435T>C	noncoding	Benign
1	207794975	G	T	G207794975T	CD46	NM_172351.3(CD46):c.*1498G>T	noncoding	Benign
1	207795352	T	G	T207795352G	CD46	NM_172351.3(CD46):c.*1875T>G	noncoding	Benign
1	208028934	G	A	G208028934A	PLXNA2	NM_025179.4(PLXNA2):c.5334C>T:p.Phe1778=	coding	Benign
1	208031580	G	A	G208031580A	PLXNA2	NM_025179.4(PLXNA2):c.5225+10C>T	noncoding	Benign
1	208033423	C	T	C208033423T	PLXNA2	NM_025179.4(PLXNA2):c.4951G>A:p.Val1651Met	coding	Benign
1	208034578	C	T	C208034578T	PLXNA2	NM_025179.4(PLXNA2):c.4779G>A:p.Ser1593=	coding	Benign
1	208038990	A	G	A208038990G	PLXNA2	NM_025179.4(PLXNA2):c.4501-6T>C	noncoding	Benign
1	208045070	G	A	G208045070A	PLXNA2	NM_025179.4(PLXNA2):c.3636C>T:p.Val1212=	coding	Benign
1	208054469	C	T	C208054469T	PLXNA2	NM_025179.4(PLXNA2):c.2808G>A:p.Glu936=	coding	Benign
1	208060718	C	T	C208060718T	PLXNA2	NM_025179.4(PLXNA2):c.2706G>A:p.Thr902=	coding	Benign
1	208079263	G	A	G208079263A	PLXNA2	NM_025179.4(PLXNA2):c.2583C>T:p.Thr861=	coding	Benign
1	208079336	T	C	T208079336C	PLXNA2	NM_025179.4(PLXNA2):c.2510A>G:p.His837Arg	coding	Benign
1	208079433	C	A	C208079433A	PLXNA2	NM_025179.4(PLXNA2):c.2413G>T:p.Ala805Ser	coding	Benign
1	208096740	C	T	C208096740T	PLXNA2	NM_025179.4(PLXNA2):c.1875G>A:p.Pro625=	coding	Benign
1	208096839	G	A	G208096839A	PLXNA2	NM_025179.4(PLXNA2):c.1776C>T:p.Ile592=	coding	Benign
1	208142347	G	A	G208142347A	PLXNA2	NM_025179.4(PLXNA2):c.1488C>T:p.Tyr496=	coding	Benign
1	208210361	G	A	G208210361A	PLXNA2	NM_025179.4(PLXNA2):c.1290C>T:p.Asp430=	coding	Benign
1	208210403	T	C	T208210403C	PLXNA2	NM_025179.4(PLXNA2):c.1248A>G:p.Ser416=	coding	Benign
1	208216876	C	T	C208216876T	PLXNA2	NM_025179.4(PLXNA2):c.1047G>A:p.Pro349=	coding	Benign
1	208217689	G	A	G208217689A	PLXNA2	NM_025179.4(PLXNA2):c.234C>T:p.Thr78=	coding	Benign
1	208217776	G	A	G208217776A	PLXNA2	NM_025179.4(PLXNA2):c.147C>T:p.Thr49=	coding	Benign
1	208217786	C	T	C208217786T	PLXNA2	NM_025179.4(PLXNA2):c.137G>A:p.Arg46His	coding	Benign
1	208217836	G	A	G208217836A	PLXNA2	NM_025179.4(PLXNA2):c.87C>T:p.Ala29=	coding	Benign
1	209614868	T	C	T209614868C	LAMB3	NM_000228.2(LAMB3):c.*403A>G	noncoding	Benign
1	209615169	G	A	G209615169A	LAMB3	NM_000228.3(LAMB3):c.*102C>T	noncoding	Benign
1	209615342	G	A	G209615342A	LAMB3	NM_000228.3(LAMB3):c.3448C>T:p.Leu1150=	coding	Benign
1	209615358	T	C	T209615358C	LAMB3	NM_000228.3(LAMB3):c.3432A>G:p.Ser1144=	coding	Benign
1	209615359	G	T	G209615359T	LAMB3	NM_000228.3(LAMB3):c.3431C>A:p.Ser1144Ter	coding	Pathogenic
1	209615408	C	T	C209615408T	LAMB3	NM_000228.3(LAMB3):c.3383-1G>A	coding	Pathogenic
1	209616513	C	A	C209616513A	LAMB3	NM_000228.3(LAMB3):c.3340G>T:p.Glu1114Ter	coding	Pathogenic
1	209616601	C	T	C209616601T	LAMB3	NM_000228.3(LAMB3):c.3252G>A:p.Lys1084=	coding	Benign
1	209617409	C	T	C209617409T	LAMB3	NM_000228.3(LAMB3):c.3228+1G>A	noncoding	Pathogenic
1	209618044	G	A	G209618044A	LAMB3	NM_000228.3(LAMB3):c.2914C>T:p.Arg972Ter	coding	Pathogenic
1	209618555	G	A	G209618555A	LAMB3	NM_000228.3(LAMB3):c.2806C>T:p.Gln936Ter	coding	Pathogenic
1	209618584	G	T	G209618584T	LAMB3	NM_000228.3(LAMB3):c.2777C>A:p.Ala926Asp	coding	Benign
1	209618638	G	A	G209618638A	LAMB3	NM_000228.3(LAMB3):c.2723C>T:p.Thr908Ile	coding	Benign
1	209618673	C	T	C209618673T	LAMB3	NM_000228.3(LAMB3):c.2702-14G>A	noncoding	Benign
1	209622564	T	C	T209622564C	LAMB3	NM_000228.3(LAMB3):c.2673A>G:p.Leu891=	coding	Benign
1	209622632	G	T	G209622632T	LAMB3	NM_000228.3(LAMB3):c.2605C>A:p.Arg869Ser	coding	Benign
1	209622969	C	T	C209622969T	LAMB3	NM_000228.3(LAMB3):c.2556+13G>A	noncoding	Benign
1	209622984	T	A	T209622984A	LAMB3	NM_000228.3(LAMB3):c.2554A>T:p.Met852Leu	coding	Benign
1	209622987	G	A	G209622987A	LAMB3	NM_000228.3(LAMB3):c.2551C>T:p.Gln851Ter	coding	Pathogenic
1	209622996	G	A	G209622996A	LAMB3	NM_000228.3(LAMB3):c.2542C>T:p.Arg848Trp	coding	Benign
1	209623005	G	A	G209623005A	LAMB3	NM_000228.3(LAMB3):c.2533C>T:p.Gln845Ter	coding	Pathogenic
1	209623135	G	A	G209623135A	LAMB3	NM_000228.3(LAMB3):c.2403C>T:p.Cys801=	coding	Benign
1	209623194	C	T	C209623194T	LAMB3	NM_000228.3(LAMB3):c.2359-15G>A	noncoding	Benign
1	209623577	G	A	G209623577A	LAMB3	NM_000228.3(LAMB3):c.2286C>T:p.Thr762=	coding	Benign/Likely_benign
1	209623588	C	A	C209623588A	LAMB3	NM_000228.3(LAMB3):c.2275G>T:p.Gly759Ter	coding	Pathogenic
1	209623603	G	A	G209623603A	LAMB3	NM_000228.3(LAMB3):c.2260C>T:p.Arg754Trp	coding	Benign
1	209623853	A	G	A209623853G	LAMB3	NM_000228.3(LAMB3):c.2124T>C:p.Ser708=	coding	Benign
1	209623901	G	A	G209623901A	LAMB3	NM_000228.3(LAMB3):c.2076C>T:p.Leu692=	coding	Benign
1	209623908	T	C	T209623908C	LAMB3	NM_000228.3(LAMB3):c.2069A>G:p.Asn690Ser	coding	Benign
1	209623999	G	A	G209623999A	LAMB3	NM_000228.3(LAMB3):c.1978C>T:p.Arg660Ter	coding	Pathogenic
1	209625685	C	A	C209625685A	LAMB3	NM_000228.3(LAMB3):c.1939G>T:p.Glu647Ter	coding	Pathogenic
1	209625721	G	A	G209625721A	LAMB3	NM_000228.3(LAMB3):c.1903C>T:p.Arg635Ter	coding	Pathogenic
1	209625794	C	T	C209625794T	LAMB3	NM_000228.3(LAMB3):c.1830G>A:p.Trp610Ter	coding	Pathogenic
1	209625860	A	G	A209625860G	LAMB3	NM_000228.3(LAMB3):c.1764T>C:p.Tyr588=	coding	Benign
1	209625908	A	G	A209625908G	LAMB3	NM_000228.3(LAMB3):c.1716T>C:p.Cys572=	coding	Benign
1	209625919	G	A	G209625919A	LAMB3	NM_000228.3(LAMB3):c.1705C>T:p.Arg569Ter	coding	Pathogenic/Likely_pathogenic
1	209626885	C	T	C209626885T	LAMB3	NM_000228.3(LAMB3):c.1579G>A:p.Val527Met	coding	Benign
1	209626964	G	T	G209626964T	LAMB3	NM_000228.3(LAMB3):c.1500C>A:p.Cys500Ter	coding	Pathogenic
1	209626979	C	T	C209626979T	LAMB3	NM_000228.3(LAMB3):c.1486-1G>A	coding	Pathogenic/Likely_pathogenic
1	209626996	C	T	C209626996T	LAMB3	NM_000228.3(LAMB3):c.1486-18G>A	noncoding	Benign
1	209627429	G	A	G209627429A	LAMB3	NM_000228.3(LAMB3):c.1439C>T:p.Pro480Leu	coding	Benign/Likely_benign
1	209627455	C	T	C209627455T	LAMB3	NM_000228.3(LAMB3):c.1413G>A:p.Lys471=	coding	Benign/Likely_benign
1	209627556	A	T	A209627556T	LAMB3	NM_000228.3(LAMB3):c.1312T>A:p.Ser438Thr	coding	Benign
1	209628057	G	T	G209628057T	LAMB3	NM_000228.3(LAMB3):c.1266C>A:p.Tyr422Ter	coding	Pathogenic
1	209628065	G	C	G209628065C	LAMB3	NM_000228.3(LAMB3):c.1258C>G:p.Leu420Val	coding	Benign
1	209628087	T	C	T209628087C	LAMB3	NM_000228.3(LAMB3):c.1236A>G:p.Leu412=	coding	Benign/Likely_benign
1	209628129	C	T	C209628129T	LAMB3	NM_000228.3(LAMB3):c.1194G>A:p.Gln398=	coding	Benign/Likely_benign
1	209628135	G	A	G209628135A	LAMB3	NM_000228.3(LAMB3):c.1188C>T:p.Thr396=	coding	Benign/Likely_benign
1	209628174	C	T	C209628174T	LAMB3	NM_000228.3(LAMB3):c.1149G>A:p.Pro383=	coding	Benign
1	209629732	C	T	C209629732T	LAMB3	NM_000228.3(LAMB3):c.1132+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	209629752	G	A	G209629752A	LAMB3	NM_000228.3(LAMB3):c.1117C>T:p.Gln373Ter	coding	Pathogenic/Likely_pathogenic
1	209629794	G	A	G209629794A	LAMB3	NM_000228.3(LAMB3):c.1075C>T:p.Gln359Ter	coding	Pathogenic
1	209629852	A	C	A209629852C	LAMB3	NM_000228.3(LAMB3):c.1017T>G:p.Tyr339Ter	coding	Pathogenic
1	209629854	A	G	A209629854G	LAMB3	NM_000228.3(LAMB3):c.1015T>C:p.Tyr339His	coding	Benign
1	209630691	A	G	A209630691G	LAMB3	NM_000228.3(LAMB3):c.867T>C:p.Asn289=	coding	Benign/Likely_benign
1	209630736	C	A	C209630736A	LAMB3	NM_000228.3(LAMB3):c.823-1G>T	coding	Pathogenic/Likely_pathogenic
1	209630750	G	A	G209630750A	LAMB3	NM_000228.3(LAMB3):c.823-15C>T	noncoding	Benign
1	209632550	C	G	C209632550G	LAMB3	NM_000228.3(LAMB3):c.822+33G>C	noncoding	Benign
1	209632678	G	A	G209632678A	LAMB3	NM_000228.3(LAMB3):c.727C>T:p.Gln243Ter	coding	Pathogenic/Likely_pathogenic
1	209632716	C	G	C209632716G	LAMB3	NM_000228.3(LAMB3):c.689G>C:p.Arg230Thr	coding	Benign
1	209632777	C	T	C209632777T	LAMB3	NM_000228.3(LAMB3):c.629-1G>A	coding	Pathogenic
1	209633069	C	T	C209633069T	LAMB3	NM_000228.3(LAMB3):c.628+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	209633070	C	T	C209633070T	LAMB3	NM_000228.3(LAMB3):c.628G>A:p.Glu210Lys	coding	Pathogenic
1	209633079	T	G	T209633079G	LAMB3	NM_000228.3(LAMB3):c.619A>C:p.Lys207Gln	coding	Pathogenic
1	209633135	T	C	T209633135C	LAMB3	NM_000228.3(LAMB3):c.565-2A>G	noncoding	Pathogenic
1	209633136	A	G	A209633136G	LAMB3	NM_000228.3(LAMB3):c.565-3T>C	noncoding	Pathogenic
1	209634437	C	T	C209634437T	LAMB3	NM_000228.3(LAMB3):c.564+10G>A	noncoding	Benign
1	209634470	T	C	T209634470C	LAMB3	NM_000228.3(LAMB3):c.541A>G:p.Asn181Asp	coding	Benign
1	209634515	G	A	G209634515A	LAMB3	NM_000228.3(LAMB3):c.496C>T:p.Gln166Ter	coding	Pathogenic
1	209634581	G	A	G209634581A	LAMB3	NM_000228.3(LAMB3):c.430C>T:p.Arg144Ter	coding	Pathogenic
1	209634582	C	T	C209634582T	LAMB3	NM_000228.3(LAMB3):c.429G>A:p.Trp143Ter	coding	Pathogenic
1	209634627	G	A	G209634627A	LAMB3	NM_000228.3(LAMB3):c.384C>T:p.Pro128=	coding	Benign
1	209637898	G	A	G209637898A	LAMB3	NM_000228.3(LAMB3):c.372+10C>T	noncoding	Benign
1	209637948	T	C	T209637948C	LAMB3	NM_000228.3(LAMB3):c.332A>G:p.Asp111Gly	coding	Benign/Likely_benign
1	209638484	A	T	A209638484T	LAMB3	NM_000228.3(LAMB3):c.298+50T>A	noncoding	Benign
1	209638541	T	G	T209638541G	LAMB3	NM_000228.3(LAMB3):c.291A>C:p.Ser97=	coding	Benign
1	209638547	C	T	C209638547T	LAMB3	NM_000228.3(LAMB3):c.285G>A:p.Trp95Ter	coding	Pathogenic
1	209638591	G	A	G209638591A	LAMB3	NM_000228.3(LAMB3):c.241C>T:p.Arg81Ter	coding	Pathogenic
1	209638615	G	A	G209638615A	LAMB3	NM_000228.3(LAMB3):c.217C>T:p.Gln73Ter	coding	Pathogenic
1	209650009	G	A	G209650009A	LAMB3	NM_000228.3(LAMB3):c.138C>T:p.Thr46=	coding	Benign
1	209650023	G	A	G209650023A	LAMB3	NM_000228.3(LAMB3):c.124C>T:p.Arg42Ter	coding	Pathogenic
1	209650092	G	A	G209650092A	LAMB3	NM_000228.3(LAMB3):c.55C>T:p.Gln19Ter	coding	Pathogenic
1	209705839	C	T	C209705839T	HSD11B1	NM_005525.4(HSD11B1):c.117C>T:p.Val39=	coding	Benign
1	209706914	T	G	T209706914G	HSD11B1	NM_005525.4(HSD11B1):c.332-29T>G	noncoding	Benign
1	209707020	C	T	C209707020T	HSD11B1	NM_005525.4(HSD11B1):c.409C>T:p.Arg137Cys	coding	Pathogenic
1	209732427	G	A	G209732427A	HSD11B1	NM_005525.4(HSD11B1):c.518-9G>A	noncoding	Benign
1	209732479	G	T	G209732479T	HSD11B1	NM_005525.4(HSD11B1):c.561G>T:p.Lys187Asn	coding	Pathogenic
1	209734386	G	C	G209734386C	HSD11B1	NM_005525.4(HSD11B1):c.744G>C:p.Gly248=	coding	Benign/Likely_benign
1	209785823	C	T	C209785823T	IRF6	NM_006147.4(IRF6):c.*2597G>A	noncoding	Benign
1	209785948	C	T	C209785948T	IRF6	NM_006147.4(IRF6):c.*2472G>A	noncoding	Benign
1	209786269	G	T	G209786269T	IRF6	NM_006147.4(IRF6):c.*2151C>A	noncoding	Benign
1	209786298	A	G	A209786298G	IRF6	NM_006147.4(IRF6):c.*2122T>C	noncoding	Benign
1	209786527	G	A	G209786527A	IRF6	NM_006147.4(IRF6):c.*1893C>T	noncoding	Benign
1	209786649	T	C	T209786649C	IRF6	NM_006147.4(IRF6):c.*1771A>G	noncoding	Benign
1	209786909	G	A	G209786909A	IRF6	NM_006147.4(IRF6):c.*1511C>T	noncoding	Benign
1	209787091	G	A	G209787091A	IRF6	NM_006147.4(IRF6):c.*1329C>T	noncoding	Benign
1	209787155	C	G	C209787155G	IRF6	NM_006147.4(IRF6):c.*1265G>C	noncoding	Benign
1	209787174	G	C	G209787174C	IRF6	NM_006147.4(IRF6):c.*1246C>G	noncoding	Benign
1	209787455	C	T	C209787455T	IRF6	NM_006147.4(IRF6):c.*965G>A	noncoding	Benign
1	209787577	A	C	A209787577C	IRF6	NM_006147.4(IRF6):c.*843T>G	noncoding	Benign
1	209787580	T	C	T209787580C	IRF6	NM_006147.4(IRF6):c.*840A>G	noncoding	Benign
1	209787678	T	A	T209787678A	IRF6	NM_006147.4(IRF6):c.*742A>T	noncoding	Benign
1	209787755	G	T	G209787755T	IRF6	NM_006147.4(IRF6):c.*665C>A	noncoding	Benign
1	209787862	G	A	G209787862A	IRF6	NM_006147.4(IRF6):c.*558C>T	noncoding	Benign
1	209787941	A	C	A209787941C	IRF6	NM_006147.4(IRF6):c.*479T>G	noncoding	Benign
1	209787969	T	C	T209787969C	IRF6	NM_006147.4(IRF6):c.*451A>G	noncoding	Benign
1	209788009	G	A	G209788009A	IRF6	NM_006147.4(IRF6):c.*411C>T	noncoding	Benign
1	209788067	A	G	A209788067G	IRF6	NM_006147.4(IRF6):c.*353T>C	noncoding	Benign
1	209788078	T	G	T209788078G	IRF6	NM_006147.4(IRF6):c.*342A>C	noncoding	Benign
1	209788141	A	G	A209788141G	IRF6	NM_006147.4(IRF6):c.*279T>C	noncoding	Benign
1	209788216	G	A	G209788216A	IRF6	NM_006147.4(IRF6):c.*204C>T	noncoding	Benign
1	209788508	A	G	A209788508G	IRF6	NM_006147.4(IRF6):c.1316T>C:p.Leu439Pro	coding	Pathogenic
1	209788553	G	A	G209788553A	IRF6	NM_006147.4(IRF6):c.1271C>T:p.Ser424Leu	coding	Pathogenic
1	209788590	G	A	G209788590A	IRF6	NM_006147.4(IRF6):c.1234C>T:p.Arg412Ter	coding	Pathogenic
1	209788625	C	T	C209788625T	IRF6	NM_006147.4(IRF6):c.1199G>A:p.Arg400Gln	coding	Pathogenic
1	209788626	G	A	G209788626A	IRF6	NM_006147.4(IRF6):c.1198C>T:p.Arg400Trp	coding	Pathogenic
1	209788638	G	A	G209788638A	IRF6	NM_006147.4(IRF6):c.1186C>T:p.Pro396Ser	coding	Pathogenic
1	209789669	G	A	G209789669A	IRF6	NM_006147.4(IRF6):c.1177C>T:p.Gln393Ter	coding	Pathogenic
1	209789673	C	A	C209789673A	IRF6	NM_006147.4(IRF6):c.1173G>T:p.Leu391Phe	coding	Benign
1	209789693	A	G	A209789693G	IRF6	NM_006147.4(IRF6):c.1153T>C:p.Leu385=	coding	Benign
1	209789709	C	T	C209789709T	IRF6	NM_006147.4(IRF6):c.1137G>A:p.Trp379Ter	coding	Pathogenic
1	209790539	C	A	C209790539A	IRF6	NM_006147.4(IRF6):c.1016G>T:p.Arg339Ile	coding	Pathogenic
1	209790561	C	T	C209790561T	IRF6	NM_006147.4(IRF6):c.994G>A:p.Val332Ile	coding	Benign
1	209790566	G	T	G209790566T	IRF6	NM_006147.4(IRF6):c.989C>A:p.Ser330Ter	coding	Pathogenic
1	209790696	G	A	G209790696A	IRF6	NM_006147.4(IRF6):c.859C>T:p.Gln287Ter	coding	Pathogenic
1	209790735	C	T	C209790735T	IRF6	NM_006147.4(IRF6):c.820G>A:p.Val274Ile	coding	Benign
1	209790796	A	G	A209790796G	IRF6	NM_006147.4(IRF6):c.759T>C:p.Tyr253=	coding	Benign/Likely_benign
1	209790806	C	T	C209790806T	IRF6	NM_006147.4(IRF6):c.749G>A:p.Arg250Gln	coding	Pathogenic
1	209790888	C	T	C209790888T	IRF6	NM_006147.4(IRF6):c.668-1G>A	coding	Pathogenic
1	209792242	G	C	G209792242C	IRF6	NM_006147.4(IRF6):c.667+27C>G	noncoding	Benign
1	209792301	C	T	C209792301T	IRF6	NM_006147.4(IRF6):c.635G>A:p.Ser212Asn	coding	Benign
1	209792314	G	A	G209792314A	IRF6	NM_006147.4(IRF6):c.622C>T:p.Gln208Ter	coding	Pathogenic
1	209792360	C	T	C209792360T	IRF6	NM_006147.4(IRF6):c.576G>A:p.Trp192Ter	coding	Pathogenic
1	209792468	C	T	C209792468T	IRF6	NM_006147.4(IRF6):c.509-41G>A	noncoding	Benign
1	209795308	G	C	G209795308C	IRF6	NM_006147.4(IRF6):c.490C>G:p.Pro164Ala	coding	Benign
1	209795339	C	A	C209795339A	IRF6	NM_006147.4(IRF6):c.459G>T:p.Ser153=	coding	Benign
1	209795341	A	C	A209795341C	IRF6	NM_006147.4(IRF6):c.457T>G:p.Ser153Ala	coding	Benign
1	209795344	G	A	G209795344A	IRF6	NM_006147.4(IRF6):c.454C>T:p.Gln152Ter	coding	Pathogenic
1	209795355	T	C	T209795355C	IRF6	NM_006147.4(IRF6):c.443A>G:p.Asp148Gly	coding	Benign
1	209795408	C	A	C209795408A	IRF6	NM_006147.4(IRF6):c.390G>T:p.Gly130=	coding	Benign
1	209796365	C	A	C209796365A	IRF6	NM_006147.4(IRF6):c.362G>T:p.Gly121Val	coding	Benign
1	209796375	G	A	G209796375A	IRF6	NM_006147.4(IRF6):c.352C>T:p.Gln118Ter	coding	Pathogenic
1	209796453	C	A	C209796453A	IRF6	NM_006147.4(IRF6):c.274G>T:p.Glu92Ter	coding	Pathogenic
1	209796462	T	A	T209796462A	IRF6	NM_006147.4(IRF6):c.265A>T:p.Lys89Ter	coding	Pathogenic
1	209796476	C	A	C209796476A	IRF6	NM_006147.4(IRF6):c.251G>T:p.Arg84Leu	coding	Pathogenic
1	209796476	C	T	C209796476T	IRF6	NM_006147.4(IRF6):c.251G>A:p.Arg84His	coding	Pathogenic
1	209796477	G	A	G209796477A	IRF6	NM_006147.4(IRF6):c.250C>T:p.Arg84Cys	coding	Pathogenic
1	209796501	G	A	G209796501A	IRF6	NM_006147.4(IRF6):c.226C>T:p.Pro76Ser	coding	Pathogenic
1	209796547	C	T	C209796547T	IRF6	NM_006147.4(IRF6):c.180G>A:p.Trp60Ter	coding	Pathogenic
1	209796548	C	T	C209796548T	IRF6	NM_006147.4(IRF6):c.179G>A:p.Trp60Ter	coding	Pathogenic
1	209796557	G	C	G209796557C	IRF6	NM_006147.4(IRF6):c.175-5C>G	noncoding	Benign
1	209801260	C	A	C209801260A	IRF6	NM_006147.4(IRF6):c.154G>T:p.Glu52Ter	coding	Pathogenic
1	209801269	G	A	G209801269A	IRF6	NM_006147.4(IRF6):c.145C>T:p.Gln49Ter	coding	Pathogenic
1	209801280	C	T	C209801280T	IRF6	NM_006147.4(IRF6):c.134G>A:p.Arg45Gln	coding	Pathogenic
1	209801301	A	G	A209801301G	IRF6	NM_006147.4(IRF6):c.113T>C:p.Ile38Thr	coding	Pathogenic
1	209801349	A	G	A209801349G	IRF6	NM_006147.4(IRF6):c.65T>C:p.Leu22Pro	coding	Pathogenic
1	209801389	G	A	G209801389A	IRF6	NM_006147.4(IRF6):c.25C>T:p.Arg9Trp	coding	Pathogenic/Likely_pathogenic
1	209801398	G	A	G209801398A	IRF6	NM_006147.4(IRF6):c.16C>T:p.Arg6Cys	coding	Pathogenic/Likely_pathogenic
1	209801405	G	A	G209801405A	IRF6	NM_006147.4(IRF6):c.9C>T:p.Leu3=	coding	Benign/Likely_benign
1	209801409	G	A	G209801409A	IRF6	NM_006147.4(IRF6):c.5C>T:p.Ala2Val	coding	Pathogenic
1	209801939	G	C	G209801939C	IRF6	NM_006147.4(IRF6):c.-4+33C>G	noncoding	Benign
1	209802012	C	T	C209802012T	IRF6	NM_006147.4(IRF6):c.-44G>A	noncoding	Benign
1	209802041	A	G	A209802041G	IRF6	NM_006147.4(IRF6):c.-73T>C	noncoding	Benign
1	209802047	T	C	T209802047C	IRF6	NM_006147.4(IRF6):c.-75-4A>G	noncoding	Benign
1	209806173	T	A	T209806173A	IRF6	NM_001206696.1(IRF6):c.-338A>T	noncoding	Benign
1	209806184	A	T	A209806184T	IRF6	NM_006147.3(IRF6):c.-313T>A	noncoding	Benign
1	210021211	G	A	G210021211A	SYT14	NM_001146261.2(SYT14):c.534G>A:p.Ser178=	coding	Benign
1	210021220	T	C	T210021220C	SYT14	NM_001146261.2(SYT14):c.543T>C:p.Tyr181=	coding	Benign
1	210094408	C	T	C210094408T	SYT14	NM_001146261.2(SYT14):c.664C>T:p.Leu222=	coding	Benign
1	210100365	A	G	A210100365G	SYT14	NM_001146261.2(SYT14):c.1203A>G:p.Glu401=	coding	Benign/Likely_benign
1	210155872	G	A	G210155872A	SYT14	NM_001146261.2(SYT14):c.1451G>A:p.Gly484Asp	coding	Pathogenic
1	210160736	T	C	T210160736C	SYT14	NM_001146261.2(SYT14):c.1554T>C:p.Tyr518=	coding	Benign
1	210160856	T	C	T210160856C	SYT14	NM_001146261.2(SYT14):c.1674T>C:p.Phe558=	coding	Benign
1	210387575	A	G	A210387575G	HHAT	NM_018194.6(HHAT):c.267A>G:p.Ala89=	coding	Benign
1	210404521	C	T	C210404521T	HHAT	NM_018194.6(HHAT):c.526C>T:p.Arg176Cys	coding	Benign
1	210404685	G	C	G210404685C	HHAT	NM_018194.6(HHAT):c.684+6G>C	noncoding	Benign
1	210404688	C	T	C210404688T	HHAT	NM_018194.6(HHAT):c.684+9C>T	noncoding	Benign
1	210464583	G	A	G210464583A	HHAT	NM_018194.6(HHAT):c.935G>A:p.Arg312His	coding	Benign
1	210464605	C	T	C210464605T	HHAT	NM_018194.6(HHAT):c.957C>T:p.Pro319=	coding	Benign
1	210464645	G	A	G210464645A	HHAT	NM_018194.6(HHAT):c.997G>A:p.Gly333Arg	coding	Benign
1	210588000	C	T	C210588000T	HHAT	NM_018194.6(HHAT):c.1146C>T:p.Tyr382=	coding	Benign
1	210588021	A	G	A210588021G	HHAT	NM_018194.6(HHAT):c.1167A>G:p.Ala389=	coding	Benign
1	210683428	G	A	G210683428A	KCNH1	NM_172362.3(KCNH1):c.2823C>T:p.Asn941=	coding	Benign
1	210683641	G	A	G210683641A	KCNH1	NM_172362.3(KCNH1):c.2610C>T:p.Gly870=	coding	Benign
1	210683647	C	T	C210683647T	KCNH1	NM_172362.3(KCNH1):c.2604G>A:p.Ala868=	coding	Benign
1	210683796	A	T	A210683796T	KCNH1	NM_172362.3(KCNH1):c.2455T>A:p.Ser819Thr	coding	Benign
1	210683803	C	T	C210683803T	KCNH1	NM_172362.3(KCNH1):c.2448G>A:p.Ala816=	coding	Benign
1	210775399	G	A	G210775399A	KCNH1	NM_172362.3(KCNH1):c.2061C>T:p.Phe687=	coding	Benign
1	210775432	G	C	G210775432C	KCNH1	NM_172362.3(KCNH1):c.2028C>G:p.Ala676=	coding	Benign
1	210797512	A	G	A210797512G	KCNH1	NM_172362.3(KCNH1):c.1911T>C:p.Ile637=	coding	Benign
1	210804083	G	A	G210804083A	KCNH1	NM_172362.3(KCNH1):c.1546C>T:p.Leu516Phe	coding	Pathogenic
1	210804121	T	C	T210804121C	KCNH1	NM_172362.3(KCNH1):c.1508A>G:p.Gln503Arg	coding	Pathogenic
1	210804129	A	C	A210804129C	KCNH1	NM_172362.3(KCNH1):c.1500T>G:p.Thr500=	coding	Benign
1	210804143	C	T	C210804143T	KCNH1	NM_172362.3(KCNH1):c.1486G>A:p.Gly496Arg	coding	Pathogenic/Likely_pathogenic
1	210804149	T	C	T210804149C	KCNH1	NM_172362.3(KCNH1):c.1480A>G:p.Ile494Val	coding	Pathogenic
1	210804164	G	A	G210804164A	KCNH1	NM_172362.3(KCNH1):c.1465C>T:p.Leu489Phe	coding	Pathogenic
1	210919791	T	C	T210919791C	KCNH1	NM_172362.3(KCNH1):c.1311A>G:p.Ser437=	coding	Benign
1	210919955	C	G	C210919955G	KCNH1	NM_172362.3(KCNH1):c.1147G>C:p.Val383Leu	coding	Pathogenic
1	210919967	G	C	G210919967C	KCNH1	NM_172362.3(KCNH1):c.1135C>G:p.Leu379Val	coding	Pathogenic
1	210919979	C	T	C210919979T	KCNH1	NM_172362.3(KCNH1):c.1123G>A:p.Gly375Arg	coding	Pathogenic
1	210920019	A	C	A210920019C	KCNH1	NM_172362.3(KCNH1):c.1083T>G:p.Leu361=	coding	Benign
1	210920032	C	T	C210920032T	KCNH1	NM_172362.3(KCNH1):c.1070G>A:p.Arg357Gln	coding	Pathogenic/Likely_pathogenic
1	210920047	G	T	G210920047T	KCNH1	NM_172362.3(KCNH1):c.1055C>A:p.Ser352Tyr	coding	Pathogenic
1	211019164	C	G	C211019164G	KCNH1	NM_172362.3(KCNH1):c.651G>C:p.Lys217Asn	coding	Pathogenic
1	211103486	C	T	C211103486T	KCNH1	NM_172362.3(KCNH1):c.310+10G>A	noncoding	Benign
1	211477693	C	G	C211477693G	RD3	NM_183059.2(RD3):c.*1343G>C	noncoding	Benign
1	211477705	C	T	C211477705T	RD3	NM_183059.2(RD3):c.*1331G>A	noncoding	Benign
1	211478565	G	A	G211478565A	RD3	NM_183059.2(RD3):c.*471C>T	noncoding	Benign
1	211478668	T	A	T211478668A	RD3	NM_183059.2(RD3):c.*368A>T	noncoding	Benign
1	211478843	C	G	C211478843G	RD3	NM_183059.2(RD3):c.*193G>C	noncoding	Benign
1	211479040	T	A	T211479040A	RD3	NM_183059.2(RD3):c.584A>T:p.Asp195Val	coding	Benign/Likely_benign
1	211479124	C	T	C211479124T	RD3	NM_183059.2(RD3):c.500G>A:p.Arg167Lys	coding	Benign
1	211481119	C	T	C211481119T	RD3	NM_183059.2(RD3):c.296+1G>A	noncoding	Pathogenic
1	211481181	A	G	A211481181G	RD3	NM_183059.2(RD3):c.235T>C:p.Leu79=	coding	Benign
1	211481236	G	T	G211481236T	RD3	NM_183059.2(RD3):c.180C>A:p.Tyr60Ter	coding	Pathogenic
1	211481280	C	A	C211481280A	RD3	NM_183059.2(RD3):c.136G>T:p.Glu46Ter	coding	Pathogenic
1	211481304	G	A	G211481304A	RD3	NM_183059.2(RD3):c.112C>T:p.Arg38Ter	coding	Pathogenic
1	211481332	C	T	C211481332T	RD3	NM_183059.2(RD3):c.84G>A:p.Thr28=	coding	Benign
1	211481347	C	G	C211481347G	RD3	NM_183059.2(RD3):c.69G>C:p.Glu23Asp	coding	Benign
1	211481400	A	G	A211481400G	RD3	NM_183059.2(RD3):c.16T>C:p.Trp6Arg	coding	Benign
1	211492876	A	G	A211492876G	RD3	NM_183059.2(RD3):c.-1123T>C	noncoding	Benign
1	211663447	T	C	T211663447C	NEK2	NM_002497.4(NEK2):c.1317A>G:p.Arg439=	coding	Benign
1	211663507	A	G	A211663507G	NEK2	NM_002497.4(NEK2):c.1257T>C:p.Ala419=	coding	Benign
1	211669235	C	T	C211669235T	NEK2	NM_002497.4(NEK2):c.863G>A:p.Arg288Gln	coding	Benign
1	211670267	C	A	C211670267A	NEK2	NM_002497.4(NEK2):c.765+14G>T	noncoding	Benign
1	211671193	C	G	C211671193G	NEK2	NM_002497.4(NEK2):c.638+9G>C	noncoding	Benign
1	211673534	A	G	A211673534G	NEK2	NM_002497.4(NEK2):c.504T>C:p.His168=	coding	Benign
1	211674304	G	C	G211674304C	NEK2	NM_002497.4(NEK2):c.306C>G:p.Thr102=	coding	Benign
1	211675465	A	C	A211675465C	NEK2	NM_002497.4(NEK2):c.15T>G:p.Ala5=	coding	Benign
1	211751077	G	A	G211751077A	LPGAT1	NM_014873.3(LPGAT1):c.855-10C>T	noncoding	Benign
1	212102892	A	G	A212102892G	DTL	NM_016448.4(DTL):c.2145A>G:p.Arg715=	coding	Benign
1	212619384	T	C	T212619384C	ATF3	NM_001674.4(ATF3):c.375T>C:p.Asn125=	coding	Benign
1	212625750	C	G	C212625750G	FAM71A	NM_153606.4(FAM71A):c.873C>G:p.Thr291=	coding	Benign
1	212625948	C	T	C212625948T	FAM71A	NM_153606.4(FAM71A):c.1071C>T:p.Ser357=	coding	Benign
1	212791668	G	T	G212791668T	NSL1	NM_015471.4(NSL1):c.96C>A:p.Pro32=	coding	Benign
1	212791725	T	C	T212791725C	NSL1	NM_015471.4(NSL1):c.39A>G:p.Pro13=	coding	Benign
1	212858367	C	T	C212858367T	FLVCR1	NM_014053.4(FLVCR1):c.-86C>T	noncoding	Benign
1	212858454	T	C	T212858454C	FLVCR1	NM_014053.4(FLVCR1):c.2T>C:p.Met1Thr	coding	Pathogenic
1	212858606	G	C	G212858606C	FLVCR1	NM_014053.4(FLVCR1):c.154G>C:p.Ala52Pro	coding	Benign
1	212858813	A	G	A212858813G	FLVCR1	NM_014053.4(FLVCR1):c.361A>G:p.Asn121Asp	coding	Pathogenic
1	212859026	T	C	T212859026C	FLVCR1	NM_014053.4(FLVCR1):c.574T>C:p.Cys192Arg	coding	Pathogenic
1	212859173	G	A	G212859173A	FLVCR1	NM_014053.4(FLVCR1):c.721G>A:p.Ala241Thr	coding	Pathogenic
1	212872765	C	A	C212872765A	FLVCR1	NM_014053.4(FLVCR1):c.971C>A:p.Ser324Ter	coding	Pathogenic/Likely_pathogenic
1	212883443	G	A	G212883443A	FLVCR1	NM_014053.4(FLVCR1):c.1092+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	212885292	G	A	G212885292A	FLVCR1	NM_014053.4(FLVCR1):c.1093-1G>A	noncoding	Pathogenic
1	212887966	T	C	T212887966C	FLVCR1	NM_014053.4(FLVCR1):c.1272T>C:p.Tyr424=	coding	Benign
1	212888020	T	A	T212888020A	FLVCR1	NM_014053.4(FLVCR1):c.1307+19T>A	noncoding	Benign
1	212889209	G	C	G212889209C	FLVCR1	NM_014053.4(FLVCR1):c.1477G>C:p.Gly493Arg	coding	Pathogenic
1	212895062	T	C	T212895062C	FLVCR1	NM_014053.4(FLVCR1):c.1593+9T>C	noncoding	Benign
1	212895253	C	T	C212895253T	FLVCR1	NM_014053.4(FLVCR1):c.1631C>T:p.Thr544Met	coding	Benign
1	212895569	T	C	T212895569C	FLVCR1	NM_014053.4(FLVCR1):c.*279T>C	noncoding	Benign
1	212895629	T	G	T212895629G	FLVCR1	NM_014053.4(FLVCR1):c.*339T>G	noncoding	Benign
1	212895643	A	G	A212895643G	FLVCR1	NM_014053.4(FLVCR1):c.*353A>G	noncoding	Benign
1	212895667	T	C	T212895667C	FLVCR1	NM_014053.4(FLVCR1):c.*377T>C	noncoding	Benign
1	212895790	G	A	G212895790A	FLVCR1	NM_014053.4(FLVCR1):c.*500G>A	noncoding	Benign
1	212895916	T	A	T212895916A	FLVCR1	NM_014053.4(FLVCR1):c.*626T>A	noncoding	Benign
1	212895963	G	A	G212895963A	FLVCR1	NM_014053.4(FLVCR1):c.*673G>A	noncoding	Benign
1	212896078	C	T	C212896078T	FLVCR1	NM_014053.4(FLVCR1):c.*788C>T	noncoding	Benign
1	212896134	T	C	T212896134C	FLVCR1	NM_014053.4(FLVCR1):c.*844T>C	noncoding	Benign
1	212896145	T	C	T212896145C	FLVCR1	NM_014053.4(FLVCR1):c.*855T>C	noncoding	Benign
1	212896181	A	G	A212896181G	FLVCR1	NM_014053.4(FLVCR1):c.*891A>G	noncoding	Benign
1	212896221	C	T	C212896221T	FLVCR1	NM_014053.4(FLVCR1):c.*931C>T	noncoding	Benign
1	212896396	C	T	C212896396T	FLVCR1	NM_014053.4(FLVCR1):c.*1106C>T	noncoding	Benign
1	212896441	A	G	A212896441G	FLVCR1	NM_014053.4(FLVCR1):c.*1151A>G	noncoding	Benign
1	212896607	A	G	A212896607G	FLVCR1	NM_014053.4(FLVCR1):c.*1317A>G	noncoding	Benign
1	212896834	A	G	A212896834G	FLVCR1	NM_014053.4(FLVCR1):c.*1544A>G	noncoding	Benign
1	212896890	G	A	G212896890A	FLVCR1	NM_014053.4(FLVCR1):c.*1600G>A	noncoding	Benign
1	212896899	A	G	A212896899G	FLVCR1	NM_014053.4(FLVCR1):c.*1609A>G	noncoding	Benign
1	212897999	T	C	T212897999C	FLVCR1	NM_014053.4(FLVCR1):c.*2709T>C	noncoding	Benign
1	212898103	G	A	G212898103A	FLVCR1	NM_014053.4(FLVCR1):c.*2813G>A	noncoding	Benign
1	212898198	G	A	G212898198A	FLVCR1	NM_014053.4(FLVCR1):c.*2908G>A	noncoding	Benign
1	212898258	G	A	G212898258A	FLVCR1	NM_014053.4(FLVCR1):c.*2968G>A	noncoding	Benign
1	212898322	G	T	G212898322T	FLVCR1	NM_014053.4(FLVCR1):c.*3032G>T	noncoding	Benign
1	212898531	C	T	C212898531T	FLVCR1	NM_014053.4(FLVCR1):c.*3241C>T	noncoding	Benign
1	212898554	T	C	T212898554C	FLVCR1	NM_014053.4(FLVCR1):c.*3264T>C	noncoding	Benign
1	212898603	G	T	G212898603T	FLVCR1	NM_014053.4(FLVCR1):c.*3313G>T	noncoding	Benign
1	213051518	C	T	C213051518T	RPS6KC1	NM_012424.6(RPS6KC1):c.105+9C>T	noncoding	Benign
1	213241112	G	C	G213241112C	RPS6KC1	NM_012424.6(RPS6KC1):c.1636G>C:p.Ala546Pro	coding	Benign
1	213241158	C	G	C213241158G	RPS6KC1	NM_012424.6(RPS6KC1):c.1682C>G:p.Pro561Arg	coding	Benign
1	213242221	A	G	A213242221G	RPS6KC1	NM_012424.6(RPS6KC1):c.2745A>G:p.Val915=	coding	Benign
1	214364603	G	A	G214364603A	PTPN14	NM_005401.5(PTPN14):c.3344C>T:p.Pro1115Leu	coding	Benign
1	214364635	G	A	G214364635A	PTPN14	NM_005401.5(PTPN14):c.3312C>T:p.Asn1104=	coding	Benign
1	214369548	G	A	G214369548A	PTPN14	NM_005401.5(PTPN14):c.3180C>T:p.His1060=	coding	Benign
1	214378017	C	T	C214378017T	PTPN14	NM_005401.5(PTPN14):c.2630G>A:p.Arg877Gln	coding	Benign
1	214383341	G	A	G214383341A	PTPN14	NM_005401.5(PTPN14):c.2514C>T:p.Asp838=	coding	Benign
1	214383969	G	A	G214383969A	PTPN14	NM_005401.5(PTPN14):c.1886C>T:p.Thr629Met	coding	Benign
1	214384472	G	A	G214384472A	PTPN14	NM_005401.5(PTPN14):c.1383C>T:p.Ser461=	coding	Benign
1	214384602	C	T	C214384602T	PTPN14	NM_005401.5(PTPN14):c.1253G>A:p.Ser418Asn	coding	Benign
1	214384655	C	T	C214384655T	PTPN14	NM_005401.5(PTPN14):c.1200G>A:p.Ser400=	coding	Benign
1	214384776	T	G	T214384776G	PTPN14	NM_005401.5(PTPN14):c.1079A>C:p.His360Pro	coding	Benign
1	214386851	G	A	G214386851A	PTPN14	NM_005401.5(PTPN14):c.1059C>T:p.Thr353=	coding	Benign
1	214394899	C	T	C214394899T	PTPN14	NM_005401.5(PTPN14):c.846G>A:p.Thr282=	coding	Benign
1	214398010	G	A	G214398010A	PTPN14	NM_005401.5(PTPN14):c.670-9C>T	noncoding	Benign
1	214411759	G	T	G214411759T	PTPN14	NM_005401.5(PTPN14):c.443-8C>A	noncoding	Benign
1	214414657	C	T	C214414657T	PTPN14	NM_005401.5(PTPN14):c.414G>A:p.Val138=	coding	Benign
1	214414669	T	C	T214414669C	PTPN14	NM_005401.5(PTPN14):c.402A>G:p.Thr134=	coding	Benign
1	214451881	C	T	C214451881T	PTPN14	NM_005401.5(PTPN14):c.268G>A:p.Ala90Thr	coding	Benign
1	214619209	T	C	T214619209C	CENPF	NM_016343.4(CENPF):c.562T>C:p.Leu188=	coding	Benign
1	214620653	A	C	A214620653C	CENPF	NM_016343.4(CENPF):c.574-2A>C	noncoding	Pathogenic
1	214620936	G	A	G214620936A	CENPF	NM_016343.4(CENPF):c.855G>A:p.Ala285=	coding	Benign
1	214622111	C	T	C214622111T	CENPF	NM_016343.4(CENPF):c.898C>T:p.Arg300Cys	coding	Benign
1	214629122	G	A	G214629122A	CENPF	NM_016343.4(CENPF):c.1145G>A:p.Arg382Lys	coding	Benign
1	214630557	T	G	T214630557G	CENPF	NM_016343.4(CENPF):c.1218T>G:p.Ser406=	coding	Benign
1	214630582	A	C	A214630582C	CENPF	NM_016343.4(CENPF):c.1243A>C:p.Ile415Leu	coding	Benign
1	214630596	C	G	C214630596G	CENPF	NM_016343.4(CENPF):c.1257C>G:p.Ala419=	coding	Benign
1	214632554	G	A	G214632554A	CENPF	NM_016343.4(CENPF):c.1398G>A:p.Ala466=	coding	Benign
1	214637862	T	C	T214637862C	CENPF	NM_016343.4(CENPF):c.1447-4T>C	noncoding	Benign/Likely_benign
1	214640082	G	T	G214640082T	CENPF	NM_016343.4(CENPF):c.1744G>T:p.Glu582Ter	coding	Pathogenic
1	214640439	A	C	A214640439C	CENPF	NM_016343.4(CENPF):c.2101A>C:p.Met701Leu	coding	Benign
1	214640609	T	C	T214640609C	CENPF	NM_016343.4(CENPF):c.2271T>C:p.His757=	coding	Benign
1	214641011	C	T	C214641011T	CENPF	NM_016343.4(CENPF):c.2673C>T:p.Asp891=	coding	Benign
1	214641072	G	T	G214641072T	CENPF	NM_016343.4(CENPF):c.2734G>T:p.Glu912Ter	coding	Pathogenic
1	214641461	A	G	A214641461G	CENPF	NM_016343.4(CENPF):c.3123A>G:p.Gln1041=	coding	Benign
1	214641645	T	C	T214641645C	CENPF	NM_016343.4(CENPF):c.3307T>C:p.Leu1103=	coding	Benign
1	214641961	C	T	C214641961T	CENPF	NM_016343.4(CENPF):c.3623C>T:p.Ala1208Val	coding	Benign
1	214642141	C	G	C214642141G	CENPF	NM_016343.4(CENPF):c.3803C>G:p.Ala1268Gly	coding	Benign
1	214642289	C	T	C214642289T	CENPF	NM_016343.4(CENPF):c.3951C>T:p.Leu1317=	coding	Benign
1	214642520	A	G	A214642520G	CENPF	NM_016343.4(CENPF):c.4182A>G:p.Thr1394=	coding	Benign
1	214642808	G	A	G214642808A	CENPF	NM_016343.4(CENPF):c.4470G>A:p.Leu1490=	coding	Benign
1	214645432	A	G	A214645432G	CENPF	NM_016343.4(CENPF):c.5862A>G:p.Ser1954=	coding	Benign
1	214645494	C	T	C214645494T	CENPF	NM_016343.4(CENPF):c.5924C>T:p.Thr1975Met	coding	Benign
1	214645569	A	G	A214645569G	CENPF	NM_016343.4(CENPF):c.5999A>G:p.His2000Arg	coding	Benign
1	214646003	C	T	C214646003T	CENPF	NM_016343.4(CENPF):c.6433C>T:p.Arg2145Cys	coding	Benign
1	214646120	G	A	G214646120A	CENPF	NM_016343.4(CENPF):c.6550G>A:p.Val2184Ile	coding	Benign
1	214646475	G	A	G214646475A	CENPF	NM_016343.4(CENPF):c.6905G>A:p.Ser2302Asn	coding	Benign
1	214646539	A	G	A214646539G	CENPF	NM_016343.4(CENPF):c.6969A>G:p.Gln2323=	coding	Benign
1	214646554	G	A	G214646554A	CENPF	NM_016343.4(CENPF):c.6984G>A:p.Glu2328=	coding	Benign
1	214646789	C	T	C214646789T	CENPF	NM_016343.4(CENPF):c.7219C>T:p.Arg2407Ter	coding	Pathogenic
1	214647076	A	G	A214647076G	CENPF	NM_016343.4(CENPF):c.7506A>G:p.Ser2502=	coding	Benign
1	214647114	A	C	A214647114C	CENPF	NM_016343.4(CENPF):c.7544A>C:p.Gln2515Pro	coding	Benign
1	214647125	A	G	A214647125G	CENPF	NM_016343.4(CENPF):c.7555A>G:p.Lys2519Glu	coding	Benign
1	214647227	G	A	G214647227A	CENPF	NM_016343.4(CENPF):c.7657G>A:p.Glu2553Lys	coding	Benign
1	214647323	G	A	G214647323A	CENPF	NM_016343.4(CENPF):c.7753G>A:p.Val2585Met	coding	Benign
1	214655246	C	T	C214655246T	CENPF	NM_016343.4(CENPF):c.8328C>T:p.Asp2776=	coding	Benign
1	214657139	C	T	C214657139T	CENPF	NM_016343.4(CENPF):c.8692C>T:p.Arg2898Ter	coding	Pathogenic
1	214657183	A	C	A214657183C	CENPF	NM_016343.4(CENPF):c.8736A>C:p.Pro2912=	coding	Benign
1	214658968	C	T	C214658968T	CENPF	NM_016343.4(CENPF):c.9081C>T:p.Leu3027=	coding	Benign
1	214663729	C	T	C214663729T	CENPF	NM_016343.4(CENPF):c.9280C>T:p.Arg3094Ter	coding	Pathogenic
1	215620510	C	T	C215620510T	KCTD3	NM_016121.5(KCTD3):c.2340C>T:p.Ser780=	coding	Benign
1	215620593	C	A	C215620593A	KCTD3	NM_016121.5(KCTD3):c.2423C>A:p.Ser808Tyr	coding	Benign
1	215625828	T	C	T215625828C	USH2A	NM_206933.3(USH2A):c.15562A>G:p.Ser5188Gly	coding	Benign
1	215625844	G	A	G215625844A	USH2A	NM_206933.4(USH2A):c.15546C>T:p.Asn5182=	coding	Benign/Likely_benign
1	215625868	A	G	A215625868G	USH2A	NM_206933.4(USH2A):c.15522T>C:p.Tyr5174=	coding	Benign
1	215628900	C	T	C215628900T	USH2A	NM_206933.3(USH2A):c.15433G>A:p.Val5145Ile	coding	Benign
1	215628905	C	T	C215628905T	USH2A	NM_206933.4(USH2A):c.15428G>A:p.Arg5143His	coding	Benign
1	215628906	G	A	G215628906A	USH2A	NM_206933.4(USH2A):c.15427C>T:p.Arg5143Cys	coding	Benign
1	215628956	A	G	A215628956G	USH2A	NM_206933.4(USH2A):c.15377T>C:p.Ile5126Thr	coding	Benign
1	215634456	T	C	T215634456C	USH2A	NM_206933.3(USH2A):c.15297+3A>G	noncoding	Benign
1	215634665	G	A	G215634665A	USH2A	NM_206933.4(USH2A):c.15091C>T:p.Arg5031Trp	coding	Benign/Likely_benign
1	215634667	G	T	G215634667T	USH2A	NM_206933.3(USH2A):c.15089C>A:p.Ser5030Ter	coding	Pathogenic
1	215634680	T	C	T215634680C	USH2A	NM_206933.4(USH2A):c.15076A>G:p.Lys5026Glu	coding	Benign
1	215639190	G	A	G215639190A	USH2A	NM_206933.3(USH2A):c.15017C>T:p.Thr5006Met	coding	Pathogenic/Likely_pathogenic
1	215640561	T	A	T215640561A	USH2A	NM_206933.4(USH2A):c.14965A>T:p.Lys4989Ter	coding	Pathogenic
1	215640566	G	A	G215640566A	USH2A	NM_206933.4(USH2A):c.14960C>T:p.Ala4987Val	coding	Benign
1	215640615	G	A	G215640615A	USH2A	NM_206933.4(USH2A):c.14911C>T:p.Arg4971Ter	coding	Pathogenic
1	215640723	G	A	G215640723A	USH2A	NM_206933.4(USH2A):c.14803C>T:p.Arg4935Ter	coding	Pathogenic
1	215640736	T	C	T215640736C	USH2A	NM_206933.3(USH2A):c.14792-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	215647552	C	A	C215647552A	USH2A	NM_206933.4(USH2A):c.14761G>T:p.Glu4921Ter	coding	Pathogenic
1	215647559	C	T	C215647559T	USH2A	NM_206933.4(USH2A):c.14754G>A:p.Thr4918=	coding	Benign/Likely_benign
1	215647615	G	A	G215647615A	USH2A	NM_206933.3(USH2A):c.14698C>T:p.Gln4900Ter	coding	Pathogenic
1	215647651	T	A	T215647651A	USH2A	NM_206933.4(USH2A):c.14662A>T:p.Thr4888Ser	coding	Benign
1	215647663	C	A	C215647663A	USH2A	NM_206933.4(USH2A):c.14650G>T:p.Glu4884Ter	coding	Pathogenic
1	215648567	C	T	C215648567T	USH2A	NM_206933.4(USH2A):c.14543G>A:p.Arg4848Gln	coding	Benign
1	215648597	C	T	C215648597T	USH2A	NM_206933.4(USH2A):c.14513G>A:p.Gly4838Glu	coding	Benign
1	215648629	G	A	G215648629A	USH2A	NM_206933.4(USH2A):c.14481C>T:p.Ala4827=	coding	Benign
1	215648656	C	T	C215648656T	USH2A	NM_206933.4(USH2A):c.14454G>A:p.Pro4818=	coding	Benign
1	215648657	G	A	G215648657A	USH2A	NM_206933.4(USH2A):c.14453C>T:p.Pro4818Leu	coding	Pathogenic/Likely_pathogenic
1	215648745	G	A	G215648745A	USH2A	NM_206933.4(USH2A):c.14365C>T:p.Gln4789Ter	coding	Pathogenic
1	215650602	G	T	G215650602T	USH2A	NM_206933.4(USH2A):c.14333C>A:p.Ala4778Asp	coding	Benign
1	215650620	G	A	G215650620A	USH2A	NM_206933.4(USH2A):c.14315C>T:p.Ser4772Phe	coding	Benign
1	215650641	A	G	A215650641G	USH2A	NM_206933.4(USH2A):c.14294T>C:p.Val4765Ala	coding	Pathogenic
1	215650648	C	T	C215650648T	USH2A	NM_206933.4(USH2A):c.14287G>A:p.Gly4763Arg	coding	Pathogenic/Likely_pathogenic
1	215650687	G	A	G215650687A	USH2A	NM_206933.4(USH2A):c.14248C>T:p.Gln4750Ter	coding	Pathogenic
1	215650709	C	T	C215650709T	USH2A	NM_206933.4(USH2A):c.14226G>A:p.Thr4742=	coding	Benign
1	215650755	C	T	C215650755T	USH2A	NM_206933.4(USH2A):c.14180G>A:p.Trp4727Ter	coding	Pathogenic/Likely_pathogenic
1	215650760	C	T	C215650760T	USH2A	NM_206933.3(USH2A):c.14175G>A:p.Trp4725Ter	coding	Pathogenic
1	215670974	G	A	G215670974A	USH2A	NM_206933.3(USH2A):c.14131C>T:p.Gln4711Ter	coding	Pathogenic
1	215671031	C	T	C215671031T	USH2A	NM_206933.4(USH2A):c.14074G>A:p.Gly4692Arg	coding	Benign/Likely_benign
1	215671067	G	A	G215671067A	USH2A	NM_206933.4(USH2A):c.14038C>T:p.Gln4680Ter	coding	Pathogenic/Likely_pathogenic
1	215671082	T	A	T215671082A	USH2A	NM_206933.4(USH2A):c.14023A>T:p.Arg4675Ter	coding	Pathogenic
1	215671085	T	C	T215671085C	USH2A	NM_206933.3(USH2A):c.14020A>G:p.Arg4674Gly	coding	Pathogenic/Likely_pathogenic
1	215671098	A	T	A215671098T	USH2A	NM_206933.4(USH2A):c.14007T>A:p.Tyr4669Ter	coding	Pathogenic
1	215671121	G	C	G215671121C	USH2A	NM_206933.4(USH2A):c.13984C>G:p.Gln4662Glu	coding	Benign
1	215671229	G	A	G215671229A	USH2A	NM_206933.4(USH2A):c.13876C>T:p.Gln4626Ter	coding	Pathogenic
1	215671248	T	C	T215671248C	USH2A	NM_206933.4(USH2A):c.13857A>G:p.Ser4619=	coding	Benign
1	215671283	G	A	G215671283A	USH2A	NM_206933.3(USH2A):c.13822C>T:p.Arg4608Ter	coding	Pathogenic
1	215674028	C	T	C215674028T	USH2A	NM_206933.3(USH2A):c.13811+72G>A	noncoding	Benign
1	215674099	C	T	C215674099T	USH2A	NM_206933.3(USH2A):c.13811+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	215674107	A	G	A215674107G	USH2A	NM_206933.4(USH2A):c.13804T>C:p.Phe4602Leu	coding	Pathogenic
1	215674148	G	T	G215674148T	USH2A	NM_206933.4(USH2A):c.13763C>A:p.Ser4588Tyr	coding	Benign
1	215674200	C	A	C215674200A	USH2A	NM_206933.4(USH2A):c.13711G>T:p.Glu4571Ter	coding	Pathogenic
1	215674216	A	C	A215674216C	USH2A	NM_206933.3(USH2A):c.13695T>G:p.Tyr4565Ter	coding	Pathogenic
1	215674290	G	A	G215674290A	USH2A	NM_206933.3(USH2A):c.13621C>T:p.Gln4541Ter	coding	Pathogenic
1	215674313	G	C	G215674313C	USH2A	NM_206933.4(USH2A):c.13598C>G:p.Ser4533Ter	coding	Pathogenic
1	215674335	G	A	G215674335A	USH2A	NM_206933.3(USH2A):c.13576C>T:p.Arg4526Ter	coding	Pathogenic
1	215674471	C	T	C215674471T	USH2A	NM_206933.4(USH2A):c.13440G>A:p.Arg4480=	coding	Benign/Likely_benign
1	215674507	T	C	T215674507C	USH2A	NM_206933.4(USH2A):c.13404A>G:p.Arg4468=	coding	Benign/Likely_benign
1	215674572	T	A	T215674572A	USH2A	NM_206933.4(USH2A):c.13339A>T:p.Met4447Leu	coding	Pathogenic/Likely_pathogenic
1	215674595	G	A	G215674595A	USH2A	NM_206933.3(USH2A):c.13316C>T:p.Thr4439Ile	coding	Pathogenic
1	215674598	C	T	C215674598T	USH2A	NM_206933.4(USH2A):c.13313G>A:p.Trp4438Ter	coding	Pathogenic/Likely_pathogenic
1	215674614	C	A	C215674614A	USH2A	NM_206933.4(USH2A):c.13297G>T:p.Val4433Leu	coding	Benign
1	215674628	C	A	C215674628A	USH2A	NM_206933.4(USH2A):c.13283G>T:p.Gly4428Val	coding	Pathogenic
1	215674639	G	T	G215674639T	USH2A	NM_206933.4(USH2A):c.13272C>A:p.Cys4424Ter	coding	Pathogenic
1	215674720	C	T	C215674720T	USH2A	NM_206933.4(USH2A):c.13191G>A:p.Glu4397=	coding	Benign
1	215674777	C	A	C215674777A	USH2A	NM_206933.4(USH2A):c.13134G>T:p.Pro4378=	coding	Benign/Likely_benign
1	215674781	G	T	G215674781T	USH2A	NM_206933.4(USH2A):c.13130C>A:p.Ser4377Ter	coding	Pathogenic/Likely_pathogenic
1	215674783	C	T	C215674783T	USH2A	NM_206933.4(USH2A):c.13128G>A:p.Trp4376Ter	coding	Pathogenic
1	215674901	G	A	G215674901A	USH2A	NM_206933.4(USH2A):c.13010C>T:p.Thr4337Met	coding	Pathogenic/Likely_pathogenic
1	215674957	G	T	G215674957T	USH2A	NM_206933.3(USH2A):c.12954C>A:p.Tyr4318Ter	coding	Pathogenic
1	215675043	G	A	G215675043A	USH2A	NM_206933.4(USH2A):c.12868C>T:p.Gln4290Ter	coding	Pathogenic
1	215675056	C	T	C215675056T	USH2A	NM_206933.4(USH2A):c.12855G>A:p.Trp4285Ter	coding	Pathogenic
1	215675057	C	T	C215675057T	USH2A	NM_206933.3(USH2A):c.12854G>A:p.Trp4285Ter	coding	Pathogenic
1	215675092	A	T	A215675092T	USH2A	NM_206933.3(USH2A):c.12819T>A:p.Tyr4273Ter	coding	Pathogenic
1	215675094	A	G	A215675094G	USH2A	NM_206933.4(USH2A):c.12817T>C:p.Tyr4273His	coding	Benign/Likely_benign
1	215675152	C	T	C215675152T	USH2A	NM_206933.4(USH2A):c.12759G>A:p.Trp4253Ter	coding	Pathogenic
1	215675168	T	C	T215675168C	USH2A	NM_206933.4(USH2A):c.12743A>G:p.His4248Arg	coding	Benign/Likely_benign
1	215675197	A	C	A215675197C	USH2A	NM_206933.4(USH2A):c.12714T>G:p.Tyr4238Ter	coding	Pathogenic
1	215675208	G	A	G215675208A	USH2A	NM_206933.4(USH2A):c.12703C>T:p.Gln4235Ter	coding	Pathogenic
1	215675220	G	A	G215675220A	USH2A	NM_206933.3(USH2A):c.12691C>T:p.Gln4231Ter	coding	Pathogenic/Likely_pathogenic
1	215675245	T	C	T215675245C	USH2A	NM_206933.4(USH2A):c.12666A>G:p.Thr4222=	coding	Benign
1	215675299	T	C	T215675299C	USH2A	NM_206933.3(USH2A):c.12612=:p.Thr4204=	coding	Benign
1	215675303	T	C	T215675303C	USH2A	NM_206933.4(USH2A):c.12608A>G:p.Gln4203Arg	coding	Benign/Likely_benign
1	215675314	A	G	A215675314G	USH2A	NM_206933.3(USH2A):c.12597T>C:p.Ala4199=	coding	Benign
1	215675336	C	T	C215675336T	USH2A	NM_206933.4(USH2A):c.12575G>A:p.Arg4192His	coding	Benign
1	215675386	C	A	C215675386A	USH2A	NM_206933.4(USH2A):c.12525G>T:p.Trp4175Cys	coding	Pathogenic
1	215675463	T	C	T215675463C	USH2A	NM_206933.3(USH2A):c.12448A>G:p.Thr4150Ala	coding	Pathogenic/Likely_pathogenic
1	215675466	A	G	A215675466G	USH2A	NM_206933.4(USH2A):c.12445T>C:p.Trp4149Arg	coding	Benign
1	215675493	A	C	A215675493C	USH2A	NM_206933.4(USH2A):c.12418T>G:p.Cys4140Gly	coding	Pathogenic
1	215675611	G	T	G215675611T	USH2A	NM_206933.4(USH2A):c.12300C>A:p.Tyr4100Ter	coding	Pathogenic/Likely_pathogenic
1	215675618	T	C	T215675618C	USH2A	NM_206933.4(USH2A):c.12295-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	215680159	C	T	C215680159T	USH2A	NM_206933.3(USH2A):c.12284G>A:p.Gly4095Asp	coding	Pathogenic/Likely_pathogenic
1	215680211	C	A	C215680211A	USH2A	NM_206933.3(USH2A):c.12232G>T:p.Glu4078Ter	coding	Pathogenic/Likely_pathogenic
1	215680241	C	A	C215680241A	USH2A	NM_206933.4(USH2A):c.12202G>T:p.Gly4068Ter	coding	Pathogenic
1	215680350	G	T	G215680350T	USH2A	NM_206933.3(USH2A):c.12093C>A:p.Tyr4031Ter	coding	Pathogenic
1	215680355	G	A	G215680355A	USH2A	NM_206933.4(USH2A):c.12088C>T:p.Leu4030=	coding	Benign/Likely_benign
1	215680377	C	G	C215680377G	USH2A	NM_206933.4(USH2A):c.12067-1G>C	coding	Pathogenic/Likely_pathogenic
1	215680377	C	T	C215680377T	USH2A	NM_206933.4(USH2A):c.12067-1G>A	coding	Pathogenic
1	215680378	T	C	T215680378C	USH2A	NM_206933.4(USH2A):c.12067-2A>G	noncoding	Pathogenic
1	215728050	C	T	C215728050T	USH2A	NM_206933.4(USH2A):c.12046G>A:p.Val4016Met	coding	Benign/Likely_benign
1	215728142	C	T	C215728142T	USH2A	NM_206933.4(USH2A):c.11954G>A:p.Trp3985Ter	coding	Pathogenic/Likely_pathogenic
1	215728150	C	T	C215728150T	USH2A	NM_206933.4(USH2A):c.11946G>A:p.Leu3982=	coding	Benign
1	215728189	T	A	T215728189A	USH2A	NM_206933.4(USH2A):c.11907A>T:p.Pro3969=	coding	Benign
1	215728229	G	C	G215728229C	USH2A	NM_206933.4(USH2A):c.11867C>G:p.Ser3956Ter	coding	Pathogenic
1	215728232	C	T	C215728232T	USH2A	NM_206933.4(USH2A):c.11864G>A:p.Trp3955Ter	coding	Pathogenic
1	215728302	G	A	G215728302A	USH2A	NM_206933.4(USH2A):c.11794C>T:p.Leu3932=	coding	Benign
1	215728342	C	T	C215728342T	USH2A	NM_206933.4(USH2A):c.11754G>A:p.Trp3918Ter	coding	Pathogenic
1	215728360	C	T	C215728360T	USH2A	NM_206933.4(USH2A):c.11736G>A:p.Glu3912=	coding	Benign
1	215728645	G	T	G215728645T	USH2A	NM_206933.3(USH2A):c.11712-261C>A	noncoding	Benign
1	215741387	T	A	T215741387A	USH2A	NM_206933.4(USH2A):c.11699A>T:p.Tyr3900Phe	coding	Pathogenic
1	215741387	T	C	T215741387C	USH2A	NM_206933.4(USH2A):c.11699A>G:p.Tyr3900Cys	coding	Pathogenic
1	215741409	G	T	G215741409T	USH2A	NM_206933.4(USH2A):c.11677C>A:p.Pro3893Thr	coding	Benign
1	215741426	C	A	C215741426A	USH2A	NM_206933.4(USH2A):c.11660G>T:p.Trp3887Leu	coding	Pathogenic
1	215741484	T	C	T215741484C	USH2A	NM_206933.4(USH2A):c.11602A>G:p.Met3868Val	coding	Benign
1	215741538	C	T	C215741538T	USH2A	NM_206933.3(USH2A):c.11549-1G>A	coding	Pathogenic
1	215743175	A	C	A215743175C	USH2A	NM_206933.4(USH2A):c.11548+2T>G	noncoding	Pathogenic
1	215743221	G	A	G215743221A	USH2A	NM_206933.4(USH2A):c.11504C>T:p.Thr3835Ile	coding	Benign
1	215743285	C	A	C215743285A	USH2A	NM_206933.4(USH2A):c.11440G>T:p.Gly3814Ter	coding	Pathogenic
1	215743321	C	T	C215743321T	USH2A	NM_206933.4(USH2A):c.11404G>A:p.Glu3802Lys	coding	Benign/Likely_benign
1	215758362	T	C	T215758362C	USH2A	NM_206933.3(USH2A):c.11389+233A>G	noncoding	Benign
1	215758586	T	A	T215758586A	USH2A	NM_206933.4(USH2A):c.11389+9A>T	noncoding	Benign
1	215758592	T	A	T215758592A	USH2A	NM_206933.3(USH2A):c.11389+3A>T	noncoding	Pathogenic
1	215758594	C	T	C215758594T	USH2A	NM_206933.3(USH2A):c.11389+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	215758623	A	T	A215758623T	USH2A	NM_206933.4(USH2A):c.11361T>A:p.Tyr3787Ter	coding	Pathogenic
1	215758656	A	T	A215758656T	USH2A	NM_206933.3(USH2A):c.11328T>A:p.Tyr3776Ter	coding	Pathogenic/Likely_pathogenic
1	215758743	G	T	G215758743T	USH2A	NM_206933.3(USH2A):c.11241C>A:p.Tyr3747Ter	coding	Pathogenic
1	215759401	T	G	T215759401G	USH2A	NM_206933.3(USH2A):c.11231+259A>C	noncoding	Benign
1	215759735	C	T	C215759735T	USH2A	NM_206933.3(USH2A):c.11156G>A:p.Arg3719His	coding	Pathogenic/Likely_pathogenic
1	215759745	G	A	G215759745A	USH2A	NM_206933.4(USH2A):c.11146C>T:p.Gln3716Ter	coding	Pathogenic
1	215759746	A	T	A215759746T	USH2A	NM_206933.4(USH2A):c.11145T>A:p.Tyr3715Ter	coding	Pathogenic
1	215759762	C	T	C215759762T	USH2A	NM_206933.4(USH2A):c.11129G>A:p.Gly3710Asp	coding	Pathogenic
1	215759786	C	T	C215759786T	USH2A	NM_206933.3(USH2A):c.11105G>A:p.Trp3702Ter	coding	Pathogenic
1	215759796	C	A	C215759796A	USH2A	NM_206933.4(USH2A):c.11095G>T:p.Glu3699Ter	coding	Pathogenic
1	215759826	G	A	G215759826A	USH2A	NM_206933.3(USH2A):c.11065C>T:p.Arg3689Ter	coding	Pathogenic
1	215759844	C	T	C215759844T	USH2A	NM_206933.4(USH2A):c.11048-1G>A	coding	Pathogenic
1	215759845	T	C	T215759845C	USH2A	NM_206933.3(USH2A):c.11048-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	215759858	G	A	G215759858A	USH2A	NM_206933.4(USH2A):c.11048-15C>T	noncoding	Benign
1	215760118	C	T	C215760118T	USH2A	NM_206933.3(USH2A):c.11048-275G>A	noncoding	Benign
1	215766680	C	T	C215766680T	USH2A	NM_206933.3(USH2A):c.11047+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	215766766	G	T	G215766766T	USH2A	NM_206933.4(USH2A):c.10962C>A:p.Tyr3654Ter	coding	Pathogenic
1	215779924	T	C	T215779924C	USH2A	NM_206933.4(USH2A):c.10858A>G:p.Ile3620Val	coding	Benign/Likely_benign
1	215779931	G	A	G215779931A	USH2A	NM_206933.4(USH2A):c.10851C>T:p.Asn3617=	coding	Benign
1	215779946	G	T	G215779946T	USH2A	NM_206933.4(USH2A):c.10836C>A:p.Val3612=	coding	Benign
1	215780023	G	A	G215780023A	USH2A	NM_206933.4(USH2A):c.10759C>T:p.Gln3587Ter	coding	Pathogenic/Likely_pathogenic
1	215782058	C	T	C215782058T	USH2A	NM_206933.4(USH2A):c.10724G>A:p.Cys3575Tyr	coding	Pathogenic/Likely_pathogenic
1	215782061	C	A	C215782061A	USH2A	NM_206933.4(USH2A):c.10721G>T:p.Gly3574Val	coding	Pathogenic
1	215782070	G	A	G215782070A	USH2A	NM_206933.4(USH2A):c.10712C>T:p.Thr3571Met	coding	Pathogenic/Likely_pathogenic
1	215782098	C	A	C215782098A	USH2A	NM_206933.3(USH2A):c.10684G>T:p.Glu3562Ter	coding	Pathogenic
1	215782146	C	T	C215782146T	USH2A	NM_206933.3(USH2A):c.10636G>A:p.Gly3546Arg	coding	Pathogenic/Likely_pathogenic
1	215782471	T	C	T215782471C	USH2A	NM_206933.3(USH2A):c.10585+267A>G	noncoding	Benign
1	215782527	T	C	T215782527C	USH2A	NM_206933.3(USH2A):c.10585+211A>G	noncoding	Benign
1	215782595	T	G	T215782595G	USH2A	NM_206933.3(USH2A):c.10585+143A>C	noncoding	Benign
1	215782762	A	G	A215782762G	USH2A	NM_206933.4(USH2A):c.10561T>C:p.Trp3521Arg	coding	Pathogenic/Likely_pathogenic
1	215782771	C	T	C215782771T	USH2A	NM_206933.4(USH2A):c.10552G>A:p.Val3518Ile	coding	Benign
1	215782779	T	C	T215782779C	USH2A	NM_206933.3(USH2A):c.10544A>G:p.Asp3515Gly	coding	Pathogenic
1	215782805	C	T	C215782805T	USH2A	NM_206933.4(USH2A):c.10518G>A:p.Thr3506=	coding	Benign/Likely_benign
1	215782813	G	C	G215782813C	USH2A	NM_206933.4(USH2A):c.10510C>G:p.Pro3504Ala	coding	Benign
1	215782873	G	A	G215782873A	USH2A	NM_206933.4(USH2A):c.10450C>T:p.Arg3484Ter	coding	Pathogenic/Likely_pathogenic
1	215782936	C	G	C215782936G	USH2A	NM_206933.3(USH2A):c.10388-1G>C	coding	Pathogenic
1	215782936	C	T	C215782936T	USH2A	NM_206933.3(USH2A):c.10388-1G>A	coding	Pathogenic
1	215782937	T	C	T215782937C	USH2A	NM_206933.3(USH2A):c.10388-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	215786733	C	A	C215786733A	USH2A	NM_206933.4(USH2A):c.10324G>T:p.Glu3442Ter	coding	Pathogenic
1	215786811	A	C	A215786811C	USH2A	NM_206933.3(USH2A):c.10246T>G:p.Cys3416Gly	coding	Benign
1	215786825	T	G	T215786825G	USH2A	NM_206933.4(USH2A):c.10232A>C:p.Glu3411Ala	coding	Benign
1	215787134	T	G	T215787134G	USH2A	NM_206933.3(USH2A):c.10183-260A>C	noncoding	Benign
1	215790167	G	T	G215790167T	USH2A	NM_206933.4(USH2A):c.10074C>A:p.Cys3358Ter	coding	Pathogenic
1	215790168	C	T	C215790168T	USH2A	NM_206933.4(USH2A):c.10073G>A:p.Cys3358Tyr	coding	Pathogenic/Likely_pathogenic
1	215790179	C	G	C215790179G	USH2A	NM_206933.4(USH2A):c.10062G>C:p.Val3354=	coding	Benign/Likely_benign
1	215790265	G	A	G215790265A	USH2A	NM_206933.3(USH2A):c.9976C>T:p.Gln3326Ter	coding	Pathogenic/Likely_pathogenic
1	215790266	C	T	C215790266T	USH2A	NM_206933.4(USH2A):c.9975G>A:p.Gly3325=	coding	Benign/Likely_benign
1	215790293	A	C	A215790293C	USH2A	NM_206933.4(USH2A):c.9959-11T>G	noncoding	Benign
1	215794736	A	G	A215794736G	USH2A	NM_206933.3(USH2A):c.9958+4171T>C	noncoding	Benign
1	215798661	T	G	T215798661G	USH2A	NM_206933.3(USH2A):c.9958+246A>C	noncoding	Benign
1	215798950	C	G	C215798950G	USH2A	NM_206933.4(USH2A):c.9915G>C:p.Glu3305Asp	coding	Benign
1	215799038	G	T	G215799038T	USH2A	NM_206933.3(USH2A):c.9827C>A:p.Ser3276Ter	coding	Pathogenic
1	215799050	G	A	G215799050A	USH2A	NM_206933.3(USH2A):c.9815C>T:p.Pro3272Leu	coding	Pathogenic/Likely_pathogenic
1	215799066	A	G	A215799066G	USH2A	NM_206933.4(USH2A):c.9799T>C:p.Cys3267Arg	coding	Pathogenic
1	215799114	A	G	A215799114G	USH2A	NM_206933.3(USH2A):c.9751T>C:p.Cys3251Arg	coding	Pathogenic
1	215813752	G	A	G215813752A	USH2A	NM_206933.4(USH2A):c.9723C>T:p.Tyr3241=	coding	Benign
1	215813793	G	A	G215813793A	USH2A	NM_206933.4(USH2A):c.9682C>T:p.Gln3228Ter	coding	Pathogenic
1	215813799	G	A	G215813799A	USH2A	NM_206933.3(USH2A):c.9676C>T:p.Arg3226Ter	coding	Pathogenic
1	215813864	T	C	T215813864C	USH2A	NM_206933.3(USH2A):c.9611A>G:p.His3204Arg	coding	Benign
1	215813880	T	C	T215813880C	USH2A	NM_206933.4(USH2A):c.9595A>G:p.Asn3199Asp	coding	Benign
1	215813906	T	C	T215813906C	USH2A	NM_206933.3(USH2A):c.9571-2A>G	noncoding	Pathogenic
1	215816996	C	T	C215816996T	USH2A	NM_206933.4(USH2A):c.9570+1G>A	noncoding	Pathogenic
1	215817098	G	A	G215817098A	USH2A	NM_206933.3(USH2A):c.9469C>T:p.Gln3157Ter	coding	Pathogenic
1	215817108	G	A	G215817108A	USH2A	NM_206933.4(USH2A):c.9459C>T:p.Cys3153=	coding	Benign/Likely_benign
1	215817108	G	T	G215817108T	USH2A	NM_206933.4(USH2A):c.9459C>A:p.Cys3153Ter	coding	Pathogenic
1	215817126	C	T	C215817126T	USH2A	NM_206933.4(USH2A):c.9441G>A:p.Trp3147Ter	coding	Pathogenic
1	215817137	C	T	C215817137T	USH2A	NM_206933.4(USH2A):c.9430G>A:p.Asp3144Asn	coding	Benign
1	215817143	C	A	C215817143A	USH2A	NM_206933.4(USH2A):c.9424G>T:p.Gly3142Ter	coding	Pathogenic
1	215817177	C	T	C215817177T	USH2A	NM_206933.3(USH2A):c.9390G>A:p.Trp3130Ter	coding	Pathogenic
1	215817196	C	T	C215817196T	USH2A	NM_206933.3(USH2A):c.9372-1G>A	coding	Pathogenic
1	215837746	G	A	G215837746A	USH2A	NM_206933.3(USH2A):c.9371+245C>T	noncoding	Benign
1	215837990	C	G	C215837990G	USH2A	NM_206933.4(USH2A):c.9371+1G>C	noncoding	Pathogenic
1	215838019	T	C	T215838019C	USH2A	NM_206933.4(USH2A):c.9343A>G:p.Thr3115Ala	coding	Benign
1	215838022	G	A	G215838022A	USH2A	NM_206933.4(USH2A):c.9340C>T:p.Pro3114Ser	coding	Benign/Likely_benign
1	215838058	G	A	G215838058A	USH2A	NM_206933.4(USH2A):c.9304C>T:p.Gln3102Ter	coding	Pathogenic
1	215838066	T	C	T215838066C	USH2A	NM_206933.4(USH2A):c.9296A>G:p.Asn3099Ser	coding	Benign
1	215838092	G	T	G215838092T	USH2A	NM_206933.3(USH2A):c.9270C>A:p.Cys3090Ter	coding	Pathogenic
1	215838100	C	T	C215838100T	USH2A	NM_206933.4(USH2A):c.9262G>A:p.Glu3088Lys	coding	Benign/Likely_benign
1	215838117	T	G	T215838117G	USH2A	NM_206933.4(USH2A):c.9259-14A>C	noncoding	Benign
1	215844293	C	T	C215844293T	USH2A	NM_206933.3(USH2A):c.9258+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	215844339	C	T	C215844339T	USH2A	NM_206933.4(USH2A):c.9213G>A:p.Ser3071=	coding	Benign
1	215844393	A	C	A215844393C	USH2A	NM_206933.4(USH2A):c.9159T>G:p.Tyr3053Ter	coding	Pathogenic
1	215844498	T	C	T215844498C	USH2A	NM_206933.3(USH2A):c.9056-2A>G	noncoding	Pathogenic
1	215845898	C	T	C215845898T	USH2A	NM_206933.4(USH2A):c.8981G>A:p.Trp2994Ter	coding	Pathogenic/Likely_pathogenic
1	215845942	T	C	T215845942C	USH2A	NM_206933.4(USH2A):c.8937A>G:p.Val2979=	coding	Benign/Likely_benign
1	215866625	T	C	T215866625C	USH2A	NM_206933.3(USH2A):c.8845+382A>G	noncoding	Benign
1	215867018	C	T	C215867018T	USH2A	NM_206933.3(USH2A):c.8834G>A:p.Trp2945Ter	coding	Pathogenic
1	215867070	C	A	C215867070A	USH2A	NM_206933.4(USH2A):c.8782G>T:p.Gly2928Ter	coding	Pathogenic
1	215867092	C	T	C215867092T	USH2A	NM_206933.3(USH2A):c.8760G>A:p.Thr2920=	coding	Benign
1	215867112	G	A	G215867112A	USH2A	NM_206933.4(USH2A):c.8740C>T:p.Arg2914Ter	coding	Pathogenic
1	215867179	T	C	T215867179C	USH2A	NM_206933.3(USH2A):c.8682-9A>G	noncoding	Pathogenic
1	215877638	C	T	C215877638T	USH2A	NM_206933.3(USH2A):c.8681+120G>A	noncoding	Benign
1	215877740	T	C	T215877740C	USH2A	NM_206933.3(USH2A):c.8681+18A>G	noncoding	Benign
1	215877757	C	T	C215877757T	USH2A	NM_206933.4(USH2A):c.8681+1G>A	noncoding	Pathogenic
1	215877758	C	T	C215877758T	USH2A	NM_206933.3(USH2A):c.8681G>A:p.Arg2894Lys	coding	Pathogenic/Likely_pathogenic
1	215877783	G	A	G215877783A	USH2A	NM_206933.4(USH2A):c.8656C>T:p.Leu2886Phe	coding	Benign
1	215877811	C	T	C215877811T	USH2A	NM_206933.4(USH2A):c.8628G>A:p.Trp2876Ter	coding	Pathogenic
1	215877815	C	T	C215877815T	USH2A	NM_206933.4(USH2A):c.8624G>A:p.Arg2875Gln	coding	Benign
1	215877855	G	A	G215877855A	USH2A	NM_206933.3(USH2A):c.8584C>T:p.Gln2862Ter	coding	Pathogenic
1	215877882	T	C	T215877882C	USH2A	NM_206933.4(USH2A):c.8559-2A>G	noncoding	Pathogenic
1	215878724	G	T	G215878724T	USH2A	NM_206933.4(USH2A):c.8558+40C>A	noncoding	Benign
1	215878763	C	A	C215878763A	USH2A	NM_206933.3(USH2A):c.8558+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	215878765	T	A	T215878765A	USH2A	NM_206933.3(USH2A):c.8557A>T:p.Arg2853Ter	coding	Pathogenic/Likely_pathogenic
1	215878776	C	A	C215878776A	USH2A	NM_206933.3(USH2A):c.8546G>T:p.Gly2849Val	coding	Pathogenic
1	215878800	C	T	C215878800T	USH2A	NM_206933.3(USH2A):c.8522G>A:p.Trp2841Ter	coding	Pathogenic/Likely_pathogenic
1	215878864	C	T	C215878864T	USH2A	NM_206933.4(USH2A):c.8458G>A:p.Val2820Ile	coding	Benign/Likely_benign
1	215878965	A	G	A215878965G	USH2A	NM_206933.4(USH2A):c.8357T>C:p.Phe2786Ser	coding	Benign/Likely_benign
1	215878990	G	A	G215878990A	USH2A	NM_206933.4(USH2A):c.8332C>T:p.Gln2778Ter	coding	Pathogenic
1	215879003	G	A	G215879003A	USH2A	NM_206933.4(USH2A):c.8319C>T:p.Ser2773=	coding	Benign/Likely_benign
1	215879051	A	C	A215879051C	USH2A	NM_206933.3(USH2A):c.8271T>G:p.Tyr2757Ter	coding	Pathogenic
1	215879068	C	T	C215879068T	USH2A	NM_206933.3(USH2A):c.8254G>A:p.Gly2752Arg	coding	Pathogenic
1	215879090	C	G	C215879090G	USH2A	NM_206933.4(USH2A):c.8232G>C:p.Trp2744Cys	coding	Pathogenic/Likely_pathogenic
1	215879091	C	T	C215879091T	USH2A	NM_206933.4(USH2A):c.8231G>A:p.Trp2744Ter	coding	Pathogenic
1	215888482	G	A	G215888482A	USH2A	NM_206933.3(USH2A):c.8167C>T:p.Arg2723Ter	coding	Pathogenic
1	215888560	C	A	C215888560A	USH2A	NM_206933.3(USH2A):c.8089G>T:p.Glu2697Ter	coding	Pathogenic
1	215888570	C	T	C215888570T	USH2A	NM_206933.3(USH2A):c.8079G>A:p.Trp2693Ter	coding	Pathogenic
1	215888650	C	A	C215888650A	USH2A	NM_206933.3(USH2A):c.7999G>T:p.Glu2667Ter	coding	Pathogenic
1	215888717	C	T	C215888717T	USH2A	NM_206933.3(USH2A):c.7932G>A:p.Trp2644Ter	coding	Pathogenic/Likely_pathogenic
1	215888776	C	A	C215888776A	USH2A	NM_206933.4(USH2A):c.7873G>T:p.Glu2625Ter	coding	Pathogenic
1	215888964	A	G	A215888964G	USH2A	NM_206933.4(USH2A):c.7685T>C:p.Val2562Ala	coding	Benign
1	215889016	T	A	T215889016A	USH2A	NM_206933.4(USH2A):c.7633A>T:p.Lys2545Ter	coding	Pathogenic
1	215889057	G	C	G215889057C	USH2A	NM_206933.3(USH2A):c.7595-3C>G	noncoding	Pathogenic/Likely_pathogenic
1	215890960	A	T	A215890960T	USH2A	NM_206933.3(USH2A):c.7595-1906T>A	noncoding	Benign
1	215891198	T	C	T215891198C	USH2A	NM_206933.3(USH2A):c.7595-2144A>G	noncoding	Pathogenic
1	215899947	G	T	G215899947T	USH2A	NM_206933.3(USH2A):c.7594+128C>A	noncoding	Benign
1	215900085	G	A	G215900085A	USH2A	NM_206933.4(USH2A):c.7584C>T:p.Thr2528=	coding	Benign
1	215900101	C	T	C215900101T	USH2A	NM_206933.3(USH2A):c.7568G>A:p.Trp2523Ter	coding	Pathogenic/Likely_pathogenic
1	215900163	C	T	C215900163T	USH2A	NM_206933.4(USH2A):c.7506G>A:p.Pro2502=	coding	Benign
1	215900168	G	A	G215900168A	USH2A	NM_206933.3(USH2A):c.7501C>T:p.Gln2501Ter	coding	Pathogenic
1	215900194	G	T	G215900194T	USH2A	NM_206933.3(USH2A):c.7475C>A:p.Ser2492Ter	coding	Pathogenic/Likely_pathogenic
1	215900872	G	A	G215900872A	USH2A	NM_206933.4(USH2A):c.7334C>T:p.Ser2445Phe	coding	Benign
1	215934573	G	A	G215934573A	USH2A	NM_206933.3(USH2A):c.7300+43C>T	noncoding	Benign
1	215934672	G	C	G215934672C	USH2A	NM_206933.4(USH2A):c.7244C>G:p.Ser2415Ter	coding	Pathogenic
1	215934685	G	A	G215934685A	USH2A	NM_206933.4(USH2A):c.7231C>T:p.Gln2411Ter	coding	Pathogenic
1	215934756	A	G	A215934756G	USH2A	NM_206933.4(USH2A):c.7160T>C:p.Met2387Thr	coding	Benign
1	215934786	T	C	T215934786C	USH2A	NM_206933.4(USH2A):c.7130A>G:p.Asn2377Ser	coding	Benign/Likely_benign
1	215965397	A	T	A215965397T	USH2A	NM_206933.4(USH2A):c.7040T>A:p.Val2347Glu	coding	Pathogenic
1	215965470	G	A	G215965470A	USH2A	NM_206933.3(USH2A):c.6967C>T:p.Arg2323Ter	coding	Pathogenic/Likely_pathogenic
1	215965484	G	A	G215965484A	USH2A	NM_206933.4(USH2A):c.6958-5C>T	noncoding	Benign/Likely_benign
1	215970606	T	C	T215970606C	USH2A	NM_206933.3(USH2A):c.6957+19A>G	noncoding	Benign
1	215970645	C	A	C215970645A	USH2A	NM_206933.3(USH2A):c.6937G>T:p.Gly2313Cys	coding	Pathogenic/Likely_pathogenic
1	215970656	C	A	C215970656A	USH2A	NM_206933.3(USH2A):c.6926G>T:p.Cys2309Phe	coding	Pathogenic
1	215970658	T	C	T215970658C	USH2A	NM_206933.4(USH2A):c.6924A>G:p.Ala2308=	coding	Benign/Likely_benign
1	215970707	C	T	C215970707T	USH2A	NM_206933.4(USH2A):c.6875G>A:p.Arg2292His	coding	Benign
1	215970720	C	A	C215970720A	USH2A	NM_206933.3(USH2A):c.6862G>T:p.Glu2288Ter	coding	Pathogenic
1	215970747	C	A	C215970747A	USH2A	NM_206933.4(USH2A):c.6835G>T:p.Asp2279Tyr	coding	Pathogenic
1	215993112	T	G	T215993112G	USH2A	NM_206933.4(USH2A):c.6713A>C:p.Glu2238Ala	coding	Benign
1	215993142	A	T	A215993142T	USH2A	NM_206933.4(USH2A):c.6683T>A:p.Val2228Glu	coding	Benign
1	215998886	C	T	C215998886T	USH2A	NM_206933.4(USH2A):c.6657+1G>A	noncoding	Pathogenic
1	215998916	G	C	G215998916C	USH2A	NM_206933.4(USH2A):c.6628C>G:p.Pro2210Ala	coding	Benign/Likely_benign
1	215998928	G	A	G215998928A	USH2A	NM_206933.4(USH2A):c.6616C>T:p.Gln2206Ter	coding	Pathogenic/Likely_pathogenic
1	215998943	G	A	G215998943A	USH2A	NM_206933.3(USH2A):c.6601C>T:p.Gln2201Ter	coding	Pathogenic/Likely_pathogenic
1	215998957	C	G	C215998957G	USH2A	NM_206933.4(USH2A):c.6587G>C:p.Ser2196Thr	coding	Benign
1	215999016	A	G	A215999016G	USH2A	NM_206933.3(USH2A):c.6528T>C:p.Tyr2176=	coding	Benign
1	215999034	A	C	A215999034C	USH2A	NM_206933.4(USH2A):c.6510T>G:p.Ser2170Arg	coding	Benign/Likely_benign
1	215999038	A	G	A215999038G	USH2A	NM_206933.4(USH2A):c.6506T>C:p.Ile2169Thr	coding	Benign
1	216000398	C	T	C216000398T	USH2A	NM_206933.4(USH2A):c.6485+5G>A	noncoding	Pathogenic
1	216000490	C	T	C216000490T	USH2A	NM_206933.4(USH2A):c.6398G>A:p.Trp2133Ter	coding	Pathogenic
1	216000519	G	A	G216000519A	USH2A	NM_206933.4(USH2A):c.6369C>T:p.Cys2123=	coding	Benign
1	216046430	C	T	C216046430T	USH2A	NM_206933.3(USH2A):c.6325+1G>A	noncoding	Pathogenic
1	216046439	A	G	A216046439G	USH2A	NM_206933.3(USH2A):c.6317=:p.Thr2106=	coding	Benign
1	216046486	T	C	T216046486C	USH2A	NM_206933.4(USH2A):c.6270A>G:p.Leu2090=	coding	Benign
1	216046516	C	A	C216046516A	USH2A	NM_206933.4(USH2A):c.6240G>T:p.Lys2080Asn	coding	Benign
1	216046520	T	G	T216046520G	USH2A	NM_206933.4(USH2A):c.6236A>C:p.Lys2079Thr	coding	Benign
1	216046532	C	T	C216046532T	USH2A	NM_206933.4(USH2A):c.6224G>A:p.Trp2075Ter	coding	Pathogenic
1	216046570	T	G	T216046570G	USH2A	NM_206933.4(USH2A):c.6186A>C:p.Pro2062=	coding	Benign
1	216048620	T	C	T216048620C	USH2A	NM_206933.4(USH2A):c.6077A>G:p.Lys2026Arg	coding	Benign/Likely_benign
1	216070109	T	G	T216070109G	USH2A	NM_206933.4(USH2A):c.6041A>C:p.Asn2014Thr	coding	Benign
1	216070149	G	A	G216070149A	USH2A	NM_206933.4(USH2A):c.6001C>T:p.Arg2001Cys	coding	Benign/Likely_benign
1	216070157	C	T	C216070157T	USH2A	NM_206933.4(USH2A):c.5993G>A:p.Arg1998His	coding	Benign
1	216070293	C	T	C216070293T	USH2A	NM_206933.4(USH2A):c.5858-1G>A	coding	Pathogenic/Likely_pathogenic
1	216072872	T	G	T216072872G	USH2A	NM_206933.3(USH2A):c.5857+17A>C	noncoding	Benign
1	216072902	A	G	A216072902G	USH2A	NM_206933.4(USH2A):c.5844T>C:p.Arg1948=	coding	Benign/Likely_benign
1	216072910	G	A	G216072910A	USH2A	NM_206933.3(USH2A):c.5836C>T:p.Arg1946Ter	coding	Pathogenic
1	216072958	G	A	G216072958A	USH2A	NM_206933.4(USH2A):c.5788C>T:p.Arg1930Ter	coding	Pathogenic/Likely_pathogenic
1	216072965	G	T	G216072965T	USH2A	NM_206933.4(USH2A):c.5781C>A:p.Tyr1927Ter	coding	Pathogenic
1	216072971	T	G	T216072971G	USH2A-AS2;USH2A	NM_206933.3(USH2A):c.5777-2A>C	noncoding	Pathogenic/Likely_pathogenic
1	216073095	A	G	A216073095G	USH2A	NM_206933.3(USH2A):c.5776+2T>C	noncoding	Pathogenic
1	216073096	C	T	C216073096T	USH2A	NM_206933.4(USH2A):c.5776+1G>A	noncoding	Pathogenic
1	216073109	G	A	G216073109A	USH2A	NM_206933.3(USH2A):c.5764C>T:p.Gln1922Ter	coding	Pathogenic
1	216073122	G	T	G216073122T	USH2A	NM_206933.4(USH2A):c.5751C>A:p.Tyr1917Ter	coding	Pathogenic
1	216073195	G	C	G216073195C	USH2A	NM_206933.4(USH2A):c.5678C>G:p.Ser1893Ter	coding	Pathogenic
1	216073249	T	C	T216073249C	USH2A	NM_206933.4(USH2A):c.5624A>G:p.Asn1875Ser	coding	Benign/Likely_benign
1	216073264	C	T	C216073264T	USH2A	NM_206933.4(USH2A):c.5609G>A:p.Arg1870Gln	coding	Benign/Likely_benign
1	216073292	C	T	C216073292T	USH2A	NM_206933.3(USH2A):c.5581G>A:p.Gly1861Ser	coding	Pathogenic
1	216078074	C	T	C216078074T	USH2A	NM_206933.4(USH2A):c.5572+15G>A	noncoding	Benign
1	216078088	C	T	C216078088T	USH2A	NM_206933.3(USH2A):c.5572+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	216078142	C	A	C216078142A	USH2A	NM_206933.4(USH2A):c.5519G>T:p.Gly1840Val	coding	Pathogenic
1	216078144	C	T	C216078144T	USH2A	NM_206933.4(USH2A):c.5517G>A:p.Val1839=	coding	Benign/Likely_benign
1	216078155	G	T	G216078155T	USH2A	NM_206933.4(USH2A):c.5506C>A:p.Pro1836Thr	coding	Pathogenic
1	216078188	C	A	C216078188A	USH2A	NM_206933.3(USH2A):c.5473G>T:p.Glu1825Ter	coding	Pathogenic
1	216078262	C	T	C216078262T	USH2A	NM_206933.3(USH2A):c.5399G>A:p.Trp1800Ter	coding	Pathogenic
1	216078332	G	A	G216078332A	USH2A	NM_206933.3(USH2A):c.5329C>T:p.Arg1777Trp	coding	Pathogenic
1	216083268	A	C	A216083268C	USH2A	NM_206933.3(USH2A):c.5298+188T>G	noncoding	Benign
1	216084697	C	A	C216084697A	USH2A	NM_206933.3(USH2A):c.5167+1G>T	noncoding	Pathogenic
1	216084698	C	G	C216084698G	USH2A	NM_206933.3(USH2A):c.5167G>C:p.Gly1723Arg	coding	Pathogenic/Likely_pathogenic
1	216084723	A	G	A216084723G	USH2A	NM_206933.4(USH2A):c.5142T>C:p.Asn1714=	coding	Benign/Likely_benign
1	216084747	C	T	C216084747T	USH2A	NM_206933.3(USH2A):c.5118G>A:p.Trp1706Ter	coding	Pathogenic/Likely_pathogenic
1	216084786	C	T	C216084786T	USH2A	NM_206933.4(USH2A):c.5079G>A:p.Trp1693Ter	coding	Pathogenic
1	216084827	T	A	T216084827A	USH2A	NM_206933.4(USH2A):c.5038A>T:p.Lys1680Ter	coding	Pathogenic
1	216084852	G	T	G216084852T	USH2A	NM_206933.4(USH2A):c.5013C>A:p.Gly1671=	coding	Benign
1	216084871	A	G	A216084871G	USH2A	NM_206933.4(USH2A):c.4994T>C:p.Ile1665Thr	coding	Benign
1	216086749	G	A	G216086749A	USH2A	NM_206933.3(USH2A):c.4957C>T:p.Arg1653Ter	coding	Pathogenic
1	216086773	C	A	C216086773A	USH2A	NM_206933.4(USH2A):c.4933G>T:p.Gly1645Ter	coding	Pathogenic
1	216097080	T	C	T216097080C	USH2A	NM_206933.4(USH2A):c.4758+3A>G	noncoding	Benign/Likely_benign
1	216097109	G	A	G216097109A	USH2A	NM_206933.4(USH2A):c.4732C>T:p.Arg1578Cys	coding	Pathogenic
1	216097134	A	C	A216097134C	USH2A	NM_206933.4(USH2A):c.4707T>G:p.Tyr1569Ter	coding	Pathogenic
1	216097143	C	T	C216097143T	USH2A	NM_206933.3(USH2A):c.4698G>A:p.Gln1566=	coding	Benign
1	216097196	G	A	G216097196A	USH2A	NM_206933.4(USH2A):c.4645C>T:p.Arg1549Ter	coding	Pathogenic
1	216097215	T	C	T216097215C	USH2A	NM_206933.4(USH2A):c.4628-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	216097276	G	A	G216097276A	USH2A	NM_206933.3(USH2A):c.4628-63C>T	noncoding	Benign
1	216174110	C	A	C216174110A	USH2A	NM_007123.5(USH2A):c.*1128G>T	coding	Benign
1	216174214	A	G	A216174214G	USH2A	NM_007123.5(USH2A):c.*1024T>C	coding	Benign
1	216174553	G	T	G216174553T	USH2A	NM_007123.5(USH2A):c.*685C>A	coding	Benign
1	216175107	A	C	A216175107C	USH2A	NM_007123.5(USH2A):c.*131T>G	coding	Benign
1	216175220	C	A	C216175220A	USH2A	NM_206933.4(USH2A):c.4627+32G>T	coding	Benign
1	216175303	C	T	C216175303T	USH2A	NM_206933.4(USH2A):c.4576G>A:p.Gly1526Arg	coding	Pathogenic
1	216175336	T	C	T216175336C	USH2A	NM_206933.3(USH2A):c.4543A>G:p.Thr1515Ala	coding	Benign
1	216175405	C	A	C216175405A	USH2A	NM_206933.3(USH2A):c.4474G>T:p.Glu1492Ter	coding	Pathogenic
1	216175422	C	T	C216175422T	USH2A	NM_007123.5(USH2A):c.4457=:p.Lys1486=	coding	Benign
1	216175439	G	A	G216175439A	USH2A	NM_206933.4(USH2A):c.4440C>T:p.Ser1480=	coding	Benign/Likely_benign
1	216175474	G	A	G216175474A	USH2A	NM_206933.4(USH2A):c.4405C>T:p.Gln1469Ter	coding	Pathogenic
1	216190221	A	C	A216190221C	USH2A	NM_206933.4(USH2A):c.4396+2T>G	noncoding	Pathogenic
1	216190248	C	T	C216190248T	USH2A	NM_206933.4(USH2A):c.4371G>A:p.Ser1457=	coding	Benign
1	216196582	G	A	G216196582A	USH2A	NM_206933.3(USH2A):c.4222C>T:p.Gln1408Ter	coding	Pathogenic
1	216196594	C	A	C216196594A	USH2A	NM_206933.4(USH2A):c.4210G>T:p.Glu1404Ter	coding	Pathogenic
1	216196630	C	A	C216196630A	USH2A	NM_206933.3(USH2A):c.4174G>T:p.Gly1392Ter	coding	Pathogenic/Likely_pathogenic
1	216198363	C	G	C216198363G	USH2A	NM_206933.4(USH2A):c.4033G>C:p.Ala1345Pro	coding	Pathogenic
1	216198451	A	G	A216198451G	USH2A	NM_206933.4(USH2A):c.3945T>C:p.Asn1315=	coding	Benign
1	216198476	G	C	G216198476C	USH2A	NM_206933.3(USH2A):c.3920C>G:p.Ser1307Ter	coding	Pathogenic
1	216198494	C	A	C216198494A	USH2A	NM_206933.2(USH2A):c.3902G>T:p.Gly1301Val	coding	Benign
1	216198513	G	A	G216198513A	USH2A	NM_206933.3(USH2A):c.3883C>T:p.Arg1295Ter	coding	Pathogenic
1	216198555	T	A	T216198555A	USH2A	NM_206933.4(USH2A):c.3841A>T:p.Arg1281Ter	coding	Pathogenic
1	216198586	T	C	T216198586C	USH2A-AS1;USH2A	NM_206933.4(USH2A):c.3812-2A>G	noncoding	Pathogenic
1	216198592	A	C	A216198592C	USH2A	NM_206933.4(USH2A):c.3812-8T>G	noncoding	Benign
1	216199650	C	T	C216199650T	USH2A	NM_206933.3(USH2A):c.3788G>A:p.Trp1263Ter	coding	Pathogenic
1	216199746	C	T	C216199746T	USH2A	NM_206933.4(USH2A):c.3692G>A:p.Ser1231Asn	coding	Pathogenic
1	216199752	A	C	A216199752C	USH2A	NM_206933.4(USH2A):c.3686T>G:p.Leu1229Ter	coding	Pathogenic/Likely_pathogenic
1	216199760	C	T	C216199760T	USH2A	NM_206933.3(USH2A):c.3678G>A:p.Gly1226=	coding	Benign
1	216199777	G	A	G216199777A	USH2A	NM_206933.3(USH2A):c.3661C>T:p.Gln1221Ter	coding	Pathogenic
1	216199834	C	A	C216199834A	USH2A	NM_206933.4(USH2A):c.3604G>T:p.Glu1202Ter	coding	Pathogenic
1	216199907	A	G	A216199907G	USH2A	NM_206933.3(USH2A):c.3531T>C:p.Gly1177=	coding	Benign/Likely_benign
1	216199931	C	T	C216199931T	USH2A	NM_206933.3(USH2A):c.3507G>A:p.Trp1169Ter	coding	Pathogenic/Likely_pathogenic
1	216200070	T	C	T216200070C	USH2A	NM_206933.3(USH2A):c.3368A>G:p.Tyr1123Cys	coding	Pathogenic/Likely_pathogenic
1	216200074	A	C	A216200074C	USH2A	NM_206933.4(USH2A):c.3364T>G:p.Ser1122Ala	coding	Benign
1	216200123	T	C	T216200123C	USH2A	NM_206933.4(USH2A):c.3317-2A>G	noncoding	Pathogenic
1	216207280	G	T	G216207280T	USH2A	NM_206933.4(USH2A):c.3309C>A:p.Tyr1103Ter	coding	Pathogenic
1	216207338	C	T	C216207338T	USH2A	NM_206933.4(USH2A):c.3251G>A:p.Trp1084Ter	coding	Pathogenic
1	216207368	C	T	C216207368T	USH2A	NM_206933.3(USH2A):c.3221G>A:p.Trp1074Ter	coding	Pathogenic/Likely_pathogenic
1	216207433	T	C	T216207433C	USH2A	NM_206933.3(USH2A):c.3158-2A>G	noncoding	Pathogenic
1	216207438	T	C	T216207438C	USH2A	NM_206933.4(USH2A):c.3158-7A>G	noncoding	Benign/Likely_benign
1	216217133	C	T	C216217133T	USH2A	NM_206933.3(USH2A):c.3157+254G>A	noncoding	Benign
1	216231963	G	A	G216231963A	USH2A	NM_206933.3(USH2A):c.2983C>T:p.Gln995Ter	coding	Pathogenic
1	216232093	G	T	G216232093T	USH2A	NM_206933.4(USH2A):c.2853C>A:p.Cys951Ter	coding	Pathogenic
1	216232430	C	A	C216232430A	USH2A	NM_206933.3(USH2A):c.2810-294G>T	noncoding	Benign
1	216246583	A	T	A216246583T	USH2A	NM_206933.4(USH2A):c.2809+2T>A	noncoding	Pathogenic/Likely_pathogenic
1	216246584	C	T	C216246584T	USH2A	NM_206933.3(USH2A):c.2809+1G>A	noncoding	Pathogenic
1	216246597	G	A	G216246597A	USH2A	NM_206933.3(USH2A):c.2797C>T:p.Gln933Ter	coding	Pathogenic
1	216246761	C	T	C216246761T	USH2A	NM_206933.4(USH2A):c.2633G>A:p.Arg878His	coding	Benign
1	216246784	G	T	G216246784T	USH2A	NM_206933.3(USH2A):c.2610C>A:p.Cys870Ter	coding	Pathogenic
1	216246795	G	A	G216246795A	USH2A	NM_206933.4(USH2A):c.2599C>T:p.Gln867Ter	coding	Pathogenic
1	216246853	G	T	G216246853T	USH2A	NM_206933.4(USH2A):c.2541C>A:p.Cys847Ter	coding	Pathogenic
1	216246872	G	T	G216246872T	USH2A	NM_206933.3(USH2A):c.2522C>A:p.Ser841Tyr	coding	Benign
1	216246934	A	G	A216246934G	USH2A	NM_206933.3(USH2A):c.2460T>C:p.Asn820=	coding	Benign
1	216247090	G	T	G216247090T	USH2A	NM_206933.3(USH2A):c.2304C>A:p.Cys768Ter	coding	Pathogenic/Likely_pathogenic
1	216247101	G	A	G216247101A	USH2A	NM_206933.3(USH2A):c.2293C>T:p.Gln765Ter	coding	Pathogenic
1	216247118	C	A	C216247118A	USH2A	NM_206933.4(USH2A):c.2276G>T:p.Cys759Phe	coding	Pathogenic
1	216247163	C	T	C216247163T	USH2A	NM_206933.3(USH2A):c.2231G>A:p.Cys744Tyr	coding	Pathogenic/Likely_pathogenic
1	216247185	G	A	G216247185A	USH2A	NM_206933.4(USH2A):c.2209C>T:p.Arg737Ter	coding	Pathogenic
1	216247227	C	G	C216247227G	USH2A	NM_206933.3(USH2A):c.2168-1G>C	coding	Pathogenic
1	216247228	T	C	T216247228C	USH2A	NM_206933.3(USH2A):c.2168-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	216247508	G	T	G216247508T	USH2A	NM_206933.3(USH2A):c.2168-282C>A	noncoding	Benign
1	216250886	T	C	T216250886C	USH2A	NM_206933.3(USH2A):c.2167+17A>G	noncoding	Benign
1	216250898	C	T	C216250898T	USH2A	NM_206933.3(USH2A):c.2167+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	216250924	T	A	T216250924A	USH2A	NM_206933.4(USH2A):c.2146A>T:p.Lys716Ter	coding	Pathogenic
1	216250933	C	G	C216250933G	USH2A	NM_206933.4(USH2A):c.2137G>C:p.Gly713Arg	coding	Benign/Likely_benign
1	216250961	A	G	A216250961G	USH2A	NM_206933.4(USH2A):c.2109T>C:p.Asp703=	coding	Benign/Likely_benign
1	216250976	G	A	G216250976A	USH2A	NM_206933.4(USH2A):c.2094C>T:p.Thr698=	coding	Benign/Likely_benign
1	216250990	A	T	A216250990T	USH2A	NM_206933.4(USH2A):c.2080T>A:p.Cys694Ser	coding	Pathogenic
1	216250997	G	T	G216250997T	USH2A	NM_206933.4(USH2A):c.2073C>A:p.Cys691Ter	coding	Pathogenic
1	216251047	G	A	G216251047A	USH2A	NM_206933.3(USH2A):c.2023C>T:p.Gln675Ter	coding	Pathogenic
1	216251084	A	T	A216251084T	USH2A	NM_206933.4(USH2A):c.1986T>A:p.Cys662Ter	coding	Pathogenic
1	216251099	C	T	C216251099T	USH2A	NM_206933.3(USH2A):c.1972-1G>A	coding	Pathogenic/Likely_pathogenic
1	216289316	T	A	T216289316A	USH2A	NM_206933.3(USH2A):c.1935A>T:p.Thr645=	coding	Benign/Likely_benign
1	216289320	T	A	T216289320A	USH2A	NM_206933.4(USH2A):c.1931A>T:p.Asp644Val	coding	Benign/Likely_benign
1	216289328	A	T	A216289328T	USH2A	NM_206933.4(USH2A):c.1923T>A:p.Cys641Ter	coding	Pathogenic
1	216289375	G	A	G216289375A	USH2A	NM_206933.4(USH2A):c.1876C>T:p.Arg626Ter	coding	Pathogenic
1	216289412	T	C	T216289412C	USH2A	NM_206933.4(USH2A):c.1841-2A>G	noncoding	Pathogenic
1	216292156	G	C	G216292156C	USH2A	NM_206933.3(USH2A):c.1840+19C>G	noncoding	Benign
1	216292186	T	G	T216292186G	USH2A	NM_007123.5(USH2A):c.1829A>C:p.His610Pro	coding	Pathogenic
1	216292264	C	A	C216292264A	USH2A	NM_206933.4(USH2A):c.1751G>T:p.Cys584Phe	coding	Pathogenic
1	216292284	G	A	G216292284A	USH2A	NM_206933.4(USH2A):c.1731C>T:p.Cys577=	coding	Benign/Likely_benign
1	216292291	C	T	C216292291T	USH2A	NM_206933.3(USH2A):c.1724G>A:p.Cys575Tyr	coding	Pathogenic/Likely_pathogenic
1	216292328	G	A	G216292328A	USH2A	NM_206933.4(USH2A):c.1687C>T:p.Gln563Ter	coding	Pathogenic
1	216321909	G	A	G216321909A	USH2A	NM_206933.4(USH2A):c.1618C>T:p.Gln540Ter	coding	Pathogenic
1	216321913	G	T	G216321913T	USH2A	NM_206933.4(USH2A):c.1614C>A:p.Cys538Ter	coding	Pathogenic
1	216321921	A	G	A216321921G	USH2A	NM_206933.4(USH2A):c.1606T>C:p.Cys536Arg	coding	Pathogenic
1	216323605	G	A	G216323605A	USH2A	NM_206933.4(USH2A):c.1419C>T:p.Thr473=	coding	Benign
1	216324240	C	A	C216324240A	USH2A	NM_206933.4(USH2A):c.1256G>T:p.Cys419Phe	coding	Pathogenic
1	216324268	C	A	C216324268A	USH2A	NM_206933.3(USH2A):c.1228G>T:p.Glu410Ter	coding	Pathogenic
1	216324269	C	T	C216324269T	USH2A	NM_206933.3(USH2A):c.1227G>A:p.Trp409Ter	coding	Pathogenic
1	216324270	C	T	C216324270T	USH2A	NM_206933.4(USH2A):c.1226G>A:p.Trp409Ter	coding	Pathogenic
1	216324354	T	A	T216324354A	USH2A	NM_206933.4(USH2A):c.1144-2A>T	noncoding	Pathogenic
1	216325304	C	T	C216325304T	USH2A	NM_206933.4(USH2A):c.1143+1G>A	noncoding	Pathogenic
1	216325393	G	A	G216325393A	USH2A	NM_206933.4(USH2A):c.1055C>T:p.Thr352Ile	coding	Pathogenic
1	216325401	A	G	A216325401G	USH2A	NM_206933.3(USH2A):c.1047T>C:p.Asp349=	coding	Benign
1	216325412	T	G	T216325412G	USH2A	NM_206933.3(USH2A):c.1036A>C:p.Asn346His	coding	Pathogenic
1	216325448	G	A	G216325448A	USH2A	NM_206933.4(USH2A):c.1000C>T:p.Arg334Trp	coding	Pathogenic/Likely_pathogenic
1	216325499	G	T	G216325499T	USH2A	NM_206933.4(USH2A):c.949C>A:p.Arg317=	coding	Pathogenic
1	216325540	C	T	C216325540T	USH2A	NM_206933.3(USH2A):c.908G>A:p.Arg303His	coding	Pathogenic
1	216327586	C	G	C216327586G	USH2A	NM_206933.4(USH2A):c.848+5G>C	noncoding	Benign
1	216327597	G	T	G216327597T	USH2A	NM_206933.4(USH2A):c.842C>A:p.Thr281Lys	coding	Pathogenic
1	216327611	G	C	G216327611C	USH2A	NM_206933.3(USH2A):c.828C>G:p.Tyr276Ter	coding	Pathogenic/Likely_pathogenic
1	216327619	G	A	G216327619A	USH2A	NM_206933.4(USH2A):c.820C>T:p.Arg274Ter	coding	Pathogenic
1	216327637	C	T	C216327637T	USH2A	NM_206933.4(USH2A):c.802G>A:p.Gly268Arg	coding	Pathogenic/Likely_pathogenic
1	216364958	A	C	A216364958C	USH2A	NM_007123.5(USH2A):c.779T>G:p.Leu260Ter	coding	Pathogenic
1	216365005	A	G	A216365005G	USH2A	NM_206933.3(USH2A):c.732T>C:p.Gly244=	coding	Benign
1	216365069	A	G	A216365069G	USH2A	NM_206933.4(USH2A):c.668T>C:p.Ile223Thr	coding	Pathogenic
1	216418533	C	T	C216418533T	USH2A	NM_206933.4(USH2A):c.632G>A:p.Trp211Ter	coding	Pathogenic
1	216418590	T	G	T216418590G	USH2A	NM_206933.4(USH2A):c.575A>C:p.Asn192Thr	coding	Pathogenic
1	216418592	T	C	T216418592C	USH2A	NM_206933.4(USH2A):c.573A>G:p.Val191=	coding	Benign
1	216418661	T	C	T216418661C	USH2A	NM_206933.4(USH2A):c.504A>G:p.Thr168=	coding	Benign
1	216418693	C	T	C216418693T	USH2A	NM_206933.3(USH2A):c.486-14G>A	noncoding	Pathogenic/Likely_pathogenic
1	216421849	T	A	T216421849A	USH2A	NM_007123.5(USH2A):c.485+3A>T	noncoding	Pathogenic
1	216421888	A	C	A216421888C	USH2A	NM_206933.4(USH2A):c.449T>G:p.Leu150Ter	coding	Pathogenic
1	216421964	C	T	C216421964T	USH2A	NM_206933.4(USH2A):c.373G>A:p.Ala125Thr	coding	Benign
1	216422150	G	A	G216422150A	USH2A	NM_206933.3(USH2A):c.187C>T:p.Arg63Ter	coding	Pathogenic
1	216422237	G	A	G216422237A	USH2A	NM_206933.3(USH2A):c.100C>T:p.Arg34Ter	coding	Pathogenic
1	216422239	G	T	G216422239T	USH2A	NM_206933.4(USH2A):c.98C>A:p.Ser33Ter	coding	Pathogenic
1	216651070	G	A	G216651070A	ESRRG	NM_001438.4(ESRRG):c.492C>T:p.Cys164=	coding	Benign
1	216677067	G	A	G216677067A	ESRRG	NM_001438.4(ESRRG):c.472+9C>T	noncoding	Benign
1	218345400	A	G	A218345400G	TGFB2	NM_003238.5(TGFB2):c.-1302A>G	noncoding	Benign/Likely_benign
1	218345472	G	A	G218345472A	TGFB2	NM_003238.5(TGFB2):c.-1230G>A	noncoding	Benign/Likely_benign
1	218345918	A	C	A218345918C	TGFB2	NM_003238.5(TGFB2):c.-784=	noncoding	Benign
1	218345956	G	T	G218345956T	TGFB2	NM_001135599.3(TGFB2):c.-746G>T	noncoding	Benign
1	218345988	A	C	A218345988C	TGFB2	NM_001135599.3(TGFB2):c.-714A>C	noncoding	Benign
1	218346025	T	C	T218346025C	TGFB2	NM_001135599.3(TGFB2):c.-677T>C	noncoding	Benign
1	218346697	A	T	A218346697T	TGFB2	NM_003238.5(TGFB2):c.-5A>T	noncoding	Benign/Likely_benign
1	218346815	G	A	G218346815A	TGFB2	NM_003238.5(TGFB2):c.114G>A:p.Glu38=	coding	Benign/Likely_benign
1	218346914	C	A	C218346914A	TGFB2	NM_003238.5(TGFB2):c.213C>A:p.Tyr71Ter	coding	Pathogenic
1	218346998	C	A	C218346998A	TGFB2	NM_001135599.3(TGFB2):c.297C>A:p.Tyr99Ter	coding	Pathogenic
1	218346998	C	G	C218346998G	TGFB2	NM_003238.6(TGFB2):c.297C>G:p.Tyr99Ter	coding	Pathogenic
1	218405155	C	G	C218405155G	TGFB2	NM_003238.5(TGFB2):c.347-14C>G	noncoding	Benign
1	218405179	G	A	G218405179A	TGFB2	NM_003238.5(TGFB2):c.357G>A:p.Pro119=	coding	Benign/Likely_benign
1	218405213	C	T	C218405213T	TGFB2	NM_003238.5(TGFB2):c.391C>T:p.Arg131Ter	coding	Pathogenic/Likely_pathogenic
1	218405312	C	T	C218405312T	TGFB2	NM_003238.6(TGFB2):c.490C>T:p.Gln164Ter	coding	Pathogenic
1	218405323	G	A	G218405323A	TGFB2	NM_003238.5(TGFB2):c.501G>A:p.Glu167=	coding	Benign/Likely_benign
1	218434115	C	T	C218434115T	TGFB2	NM_003238.5(TGFB2):c.544C>T:p.Gln182Ter	coding	Pathogenic/Likely_pathogenic
1	218434154	G	T	G218434154T	TGFB2	NM_003238.5(TGFB2):c.583G>T:p.Glu195Ter	coding	Pathogenic
1	218434190	G	C	G218434190C	TGFB2	NM_001135599.3(TGFB2):c.703G>C:p.Val235Leu	coding	Benign/Likely_benign
1	218434221	A	C	A218434221C	TGFB2	NM_001135599.3(TGFB2):c.727+7A>C	noncoding	Benign
1	218434381	C	A	C218434381A	TGFB2	NM_003238.5(TGFB2):c.687C>A:p.Cys229Ter	coding	Pathogenic
1	218436110	C	T	C218436110T	TGFB2	NM_001135599.3(TGFB2):c.979C>T:p.Arg327Trp	coding	Pathogenic/Likely_pathogenic
1	218436111	G	A	G218436111A	TGFB2	NM_003238.5(TGFB2):c.896G>A:p.Arg299Gln	coding	Pathogenic/Likely_pathogenic
1	218436119	C	T	C218436119T	TGFB2	NM_003238.5(TGFB2):c.904C>T:p.Arg302Cys	coding	Pathogenic/Likely_pathogenic
1	218436148	G	A	G218436148A	TGFB2	NM_003238.5(TGFB2):c.932+1G>A	coding	Pathogenic
1	218437368	C	T	C218437368T	TGFB2	NM_003238.5(TGFB2):c.958C>T:p.Arg320Cys	coding	Pathogenic/Likely_pathogenic
1	218437423	C	A	C218437423A	TGFB2	NM_001135599.3(TGFB2):c.1097C>A:p.Pro366His	coding	Pathogenic
1	218437433	C	A	C218437433A	TGFB2	NM_003238.5(TGFB2):c.1023C>A:p.Tyr341Ter	coding	Pathogenic
1	218441356	C	T	C218441356T	TGFB2	NM_003238.5(TGFB2):c.1239C>T:p.Cys413=	coding	Benign/Likely_benign
1	218441401	G	A	G218441401A	TGFB2	NM_001135599.3(TGFB2):c.*39G>A	noncoding	Benign
1	218441497	G	A	G218441497A	TGFB2	NM_001135599.3(TGFB2):c.*135G>A	noncoding	Benign
1	218441563	A	T	A218441563T	TGFB2	NM_001135599.3(TGFB2):c.*201A>T	noncoding	Benign
1	218442082	T	C	T218442082C	TGFB2	NM_001135599.3(TGFB2):c.*720T>C	noncoding	Benign
1	218442109	A	C	A218442109C	TGFB2	NM_001135599.3(TGFB2):c.*747A>C	noncoding	Benign
1	218442331	T	C	T218442331C	TGFB2	NM_003238.6(TGFB2):c.*969T>C	noncoding	Benign
1	218442560	A	G	A218442560G	TGFB2	NM_001135599.3(TGFB2):c.*1198A>G	noncoding	Benign
1	218442672	C	T	C218442672T	TGFB2	NM_001135599.3(TGFB2):c.*1310C>T	noncoding	Benign
1	218442677	T	G	T218442677G	TGFB2	NM_001135599.3(TGFB2):c.*1315T>G	noncoding	Benign
1	218442751	C	T	C218442751T	TGFB2	NM_003238.6(TGFB2):c.*1389C>T	noncoding	Benign
1	218442805	T	A	T218442805A	TGFB2	NM_001135599.3(TGFB2):c.*1443T>A	noncoding	Benign
1	218442947	C	G	C218442947G	TGFB2	NM_001135599.3(TGFB2):c.*1585C>G	noncoding	Benign
1	218442986	T	A	T218442986A	TGFB2	NM_001135599.3(TGFB2):c.*1624T>A	noncoding	Benign
1	218443046	G	C	G218443046C	TGFB2	NM_001135599.3(TGFB2):c.*1684G>C	noncoding	Benign
1	218443370	G	A	G218443370A	TGFB2	NM_001135599.3(TGFB2):c.*2008G>A	noncoding	Benign
1	218443470	G	A	G218443470A	TGFB2	NM_001135599.3(TGFB2):c.*2108G>A	noncoding	Benign
1	218443631	T	C	T218443631C	TGFB2	NM_001135599.3(TGFB2):c.*2269T>C	noncoding	Benign
1	218443793	C	G	C218443793G	TGFB2	NM_001135599.3(TGFB2):c.*2431C>G	noncoding	Benign
1	218444201	G	A	G218444201A	TGFB2	NM_001135599.3(TGFB2):c.*2839G>A	noncoding	Benign
1	218444312	G	A	G218444312A	TGFB2	NM_001135599.3(TGFB2):c.*2950G>A	noncoding	Benign
1	218444558	C	T	C218444558T	TGFB2	NM_001135599.3(TGFB2):c.*3196C>T	noncoding	Benign
1	219211603	C	G	C219211603G	LYPLAL1	NM_138794.5(LYPLAL1):c.589C>G:p.Leu197Val	coding	Benign
1	219914361	C	T	C219914361T	SLC30A10	NM_018713.2(SLC30A10):c.*1088G>A	noncoding	Benign
1	219914705	C	A	C219914705A	SLC30A10	NM_018713.2(SLC30A10):c.*744G>T	noncoding	Benign
1	219915173	G	A	G219915173A	SLC30A10	NM_018713.2(SLC30A10):c.*276C>T	noncoding	Benign
1	219915334	G	C	G219915334C	SLC30A10	NM_018713.3(SLC30A10):c.*115C>G	noncoding	Benign
1	219915861	A	G	A219915861G	SLC30A10	NM_018713.2(SLC30A10):c.1046T>C:p.Leu349Pro	coding	Pathogenic
1	219915901	G	A	G219915901A	SLC30A10	NM_018713.2(SLC30A10):c.1006C>T:p.His336Tyr	coding	Pathogenic
1	219918291	G	A	G219918291A	SLC30A10	NM_018713.2(SLC30A10):c.922C>T:p.Gln308Ter	coding	Pathogenic
1	219927791	C	T	C219927791T	SLC30A10	NM_018713.2(SLC30A10):c.640+10G>A	noncoding	Benign
1	219927925	G	C	G219927925C	SLC30A10	NM_018713.2(SLC30A10):c.516C>G:p.Gly172=	coding	Benign
1	219927941	A	G	A219927941G	SLC30A10	NM_018713.2(SLC30A10):c.500T>C:p.Phe167Ser	coding	Pathogenic
1	219927981	G	A	G219927981A	SLC30A10	NM_018713.2(SLC30A10):c.460C>T:p.Gln154Ter	coding	Pathogenic
1	219928175	A	G	A219928175G	SLC30A10	NM_018713.2(SLC30A10):c.266T>C:p.Leu89Pro	coding	Pathogenic
1	219928494	G	T	G219928494T	SLC30A10	NM_018713.2(SLC30A10):c.-54C>A	noncoding	Benign
1	219979542	G	A	G219979542A	EPRS1	NM_004446.3(EPRS1):c.3785C>T:p.Pro1262Leu	coding	Benign
1	219980833	G	A	G219980833A	EPRS1	NM_004446.3(EPRS1):c.3478C>T:p.Pro1160Ser	coding	Pathogenic
1	219981454	A	G	A219981454G	EPRS1	NM_004446.3(EPRS1):c.3377T>C:p.Met1126Thr	coding	Pathogenic
1	219982801	G	C	G219982801C	EPRS1	NM_004446.3(EPRS1):c.3344C>G:p.Pro1115Arg	coding	Pathogenic
1	219988587	A	G	A219988587G	EPRS1	NM_004446.3(EPRS1):c.2775+3T>C	noncoding	Benign
1	220018462	G	A	G220018462A	EPRS1	NM_004446.3(EPRS1):c.1481C>T:p.Ala494Val	coding	Benign
1	220022447	G	A	G220022447A	EPRS1	NM_004446.3(EPRS1):c.1015C>T:p.Arg339Ter	coding	Pathogenic
1	220024321	C	G	C220024321G	EPRS1	NM_004446.3(EPRS1):c.886G>C:p.Ala296Pro	coding	Benign
1	220094239	G	T	G220094239T	IARS2	NM_018060.4(IARS2):c.23G>T:p.Arg8Leu	coding	Benign
1	220094257	C	T	C220094257T	IARS2	NM_018060.4(IARS2):c.41C>T:p.Ala14Val	coding	Benign
1	220094327	G	C	G220094327C	IARS2	NM_018060.4(IARS2):c.111G>C:p.Thr37=	coding	Benign
1	220094488	G	C	G220094488C	IARS2	NM_018060.4(IARS2):c.267+5G>C	noncoding	Benign/Likely_benign
1	220096097	A	T	A220096097T	IARS2	NM_018060.4(IARS2):c.268-7A>T	noncoding	Benign
1	220096233	A	G	A220096233G	IARS2	NM_018060.4(IARS2):c.390+7A>G	noncoding	Benign/Likely_benign
1	220096236	A	G	A220096236G	IARS2	NM_018060.4(IARS2):c.390+10A>G	noncoding	Benign/Likely_benign
1	220096458	C	T	C220096458T	IARS2	NM_018060.4(IARS2):c.390+232C>T	noncoding	Benign
1	220100222	T	G	T220100222G	IARS2	NM_018060.4(IARS2):c.391-268T>G	noncoding	Benign
1	220102036	G	A	G220102036A	IARS2	NM_018060.4(IARS2):c.551-93G>A	noncoding	Benign
1	220102258	T	C	T220102258C	IARS2	NM_018060.4(IARS2):c.680T>C:p.Phe227Ser	coding	Pathogenic
1	220102404	G	A	G220102404A	IARS2	NM_018060.4(IARS2):c.741G>A:p.Pro247=	coding	Benign
1	220102769	T	C	T220102769C	IARS2	NM_018060.4(IARS2):c.942T>C:p.Pro314=	coding	Benign/Likely_benign
1	220102991	A	G	A220102991G	IARS2	NM_018060.4(IARS2):c.950+214A>G	noncoding	Benign
1	220103753	T	G	T220103753G	IARS2	NM_018060.4(IARS2):c.1066+191T>G	noncoding	Benign
1	220105988	G	A	G220105988A	IARS2	NM_018060.4(IARS2):c.1164G>A:p.Thr388=	coding	Benign/Likely_benign
1	220114008	C	T	C220114008T	IARS2	NM_018060.4(IARS2):c.1480-306C>T	noncoding	Benign
1	220114119	C	T	C220114119T	IARS2	NM_018060.4(IARS2):c.1480-195C>T	noncoding	Benign
1	220114398	A	G	A220114398G	IARS2	NM_018060.4(IARS2):c.1564A>G:p.Ile522Val	coding	Benign
1	220114758	G	A	G220114758A	IARS2	NM_018060.4(IARS2):c.1640+284G>A	noncoding	Benign
1	220125285	T	C	T220125285C	IARS2	NM_018060.4(IARS2):c.1689T>C:p.Asp563=	coding	Benign
1	220125322	A	G	A220125322G	IARS2	NM_018060.4(IARS2):c.1726A>G:p.Lys576Glu	coding	Benign
1	220126693	T	C	T220126693C	IARS2	NM_018060.4(IARS2):c.1744-57T>C	noncoding	Benign
1	220134507	A	G	A220134507G	IARS2	NM_018060.4(IARS2):c.1943A>G:p.Tyr648Cys	coding	Benign
1	220137005	A	C	A220137005C	IARS2	NM_018060.4(IARS2):c.2049+94A>C	noncoding	Benign
1	220139114	A	G	A220139114G	IARS2	NM_018060.4(IARS2):c.2282A>G:p.His761Arg	coding	Pathogenic
1	220140511	G	A	G220140511A	IARS2	NM_018060.4(IARS2):c.2414+222G>A	noncoding	Benign
1	220141603	G	A	G220141603A	IARS2	NM_018060.4(IARS2):c.2415-200G>A	noncoding	Benign
1	220141838	G	A	G220141838A	IARS2	NM_018060.4(IARS2):c.2450G>A:p.Arg817His	coding	Pathogenic
1	220143003	G	A	G220143003A	IARS2	NM_018060.4(IARS2):c.2620G>A:p.Gly874Arg	coding	Pathogenic
1	220143108	C	T	C220143108T	IARS2	NM_018060.4(IARS2):c.2725C>T:p.Pro909Ser	coding	Pathogenic
1	220143109	C	T	C220143109T	IARS2	NM_018060.4(IARS2):c.2726C>T:p.Pro909Leu	coding	Pathogenic
1	220145665	A	G	A220145665G	IARS2	NM_018060.4(IARS2):c.2896+12A>G	noncoding	Benign
1	220145959	T	G	T220145959G	IARS2	NM_018060.4(IARS2):c.2896+306T>G	noncoding	Benign
1	220147199	A	G	A220147199G	IARS2	NM_018060.4(IARS2):c.2897-294A>G	noncoding	Benign
1	220149208	C	T	C220149208T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2043G>A	noncoding	Benign
1	220149747	C	A	C220149747A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1504G>T	noncoding	Benign
1	220150121	T	C	T220150121C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1130A>G	noncoding	Benign
1	220150326	G	A	G220150326A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*925C>T	noncoding	Benign
1	220150847	A	G	A220150847G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*404T>C	noncoding	Benign
1	220151641	G	T	G220151641T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3991C>A:p.Leu1331Ile	coding	Benign/Likely_benign
1	220151666	T	C	T220151666C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3966A>G:p.Lys1322=	coding	Benign/Likely_benign
1	220151708	C	G	C220151708G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3924G>C:p.Thr1308=	coding	Benign
1	220153976	G	A	G220153976A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3637C>T:p.Arg1213Ter	coding	Pathogenic
1	220157330	C	T	C220157330T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3495G>A:p.Leu1165=	coding	Benign
1	220157863	C	G	C220157863G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3275G>C:p.Ser1092Thr	coding	Benign
1	220162088	A	G	A220162088G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3225+110T>C	noncoding	Benign
1	220164733	C	A	C220164733A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3154G>T:p.Gly1052Cys	coding	Pathogenic
1	220167295	C	A	C220167295A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3085G>T:p.Glu1029Ter	coding	Pathogenic
1	220171111	T	C	T220171111C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2587A>G:p.Thr863Ala	coding	Benign
1	220182263	C	T	C220182263T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2304G>A:p.Leu768=	coding	Benign/Likely_benign
1	220182355	C	T	C220182355T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2213-1G>A	noncoding	Pathogenic
1	220182842	T	C	T220182842C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2088A>G:p.Thr696=	coding	Benign
1	220189696	C	T	C220189696T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1779+7G>A	noncoding	Benign/Likely_benign
1	220190069	T	C	T220190069C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1709A>G:p.Asn570Ser	coding	Benign
1	220191121	C	T	C220191121T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1434G>A:p.Trp478Ter	coding	Pathogenic
1	220191279	G	A	G220191279A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1276C>T:p.Arg426Cys	coding	Pathogenic/Likely_pathogenic
1	220193295	G	A	G220193295A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1215C>T:p.Phe405=	coding	Benign/Likely_benign
1	220195185	T	G	T220195185G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1041-18A>C	noncoding	Benign
1	220202386	A	G	A220202386G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.713-12T>C	noncoding	Benign
1	220210107	C	G	C220210107G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.612+281G>C	noncoding	Benign
1	220213246	C	T	C220213246T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.305-278G>A	noncoding	Benign
1	220213526	T	C	T220213526C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.304+330A>G	noncoding	Benign
1	220232949	A	G	A220232949G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.116-86T>C	noncoding	Benign
1	220272299	G	A	G220272299A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.39C>T:p.Asp13=	coding	Benign/Likely_benign
1	220652035	G	C	G220652035C	MARK1	NM_018650.5(MARK1):c.1621G>C:p.Ala541Pro	coding	Benign
1	220791501	G	C	G220791501C	MTARC1	NM_022746.4(MTARC1):c.286G>C:p.Val96Leu	coding	Benign
1	220791572	C	T	C220791572T	MTARC1	NM_022746.4(MTARC1):c.357C>T:p.Cys119=	coding	Benign
1	220796753	T	A	T220796753A	MTARC1	NM_022746.4(MTARC1):c.560T>A:p.Met187Lys	coding	Benign
1	220797921	G	A	G220797921A	MTARC1	NM_022746.4(MTARC1):c.660G>A:p.Ser220=	coding	Benign
1	220813282	C	T	C220813282T	MTARC1	NM_022746.4(MTARC1):c.888-10C>T	noncoding	Benign
1	220881305	C	T	C220881305T	HLX	NM_021958.4(HLX):c.704C>T:p.Ala235Val	coding	Benign
1	220884186	G	A	G220884186A	HLX	NM_021958.4(HLX):c.958-9G>A	noncoding	Benign
1	222522679	C	T	C222522679T	HHIPL2	NM_024746.4(HHIPL2):c.2097G>A:p.Arg699=	coding	Benign
1	222538766	G	T	G222538766T	HHIPL2	NM_024746.4(HHIPL2):c.1459C>A:p.Leu487Met	coding	Benign
1	222543922	C	T	C222543922T	HHIPL2	NM_024746.4(HHIPL2):c.589G>A:p.Val197Met	coding	Benign
1	222547820	G	A	G222547820A	HHIPL2	NM_024746.4(HHIPL2):c.225C>T:p.Asp75=	coding	Benign
1	222579870	A	C	A222579870C	TAF1A	NM_005681.4(TAF1A):c.294T>G:p.Ile98Met	coding	Benign
1	222628319	A	T	A222628319T	MIA3	NM_198551.4(MIA3):c.1099A>T:p.Thr367Ser	coding	Benign
1	222718983	C	A	C222718983A	BROX	NM_144695.4(BROX):c.160C>A:p.Pro54Thr	coding	Benign
1	222725482	G	A	G222725482A	BROX	NM_144695.4(BROX):c.507G>A:p.Ala169=	coding	Benign
1	222942898	G	A	G222942898A	DISP1	NM_032890.5(DISP1):c.75G>A:p.Pro25=	coding	Benign
1	222943009	C	G	C222943009G	DISP1	NM_032890.5(DISP1):c.186C>G:p.Val62=	coding	Benign
1	222943130	G	A	G222943130A	DISP1	NM_032890.5(DISP1):c.307G>A:p.Glu103Lys	coding	Benign
1	222943132	G	T	G222943132T	DISP1	NM_032890.5(DISP1):c.309G>T:p.Glu103Asp	coding	Benign
1	222943237	G	A	G222943237A	DISP1	NM_032890.5(DISP1):c.414G>A:p.Thr138=	coding	Benign
1	222994871	T	C	T222994871C	DISP1	NM_032890.5(DISP1):c.890-14T>C	noncoding	Benign
1	223002933	G	A	G223002933A	DISP1	NM_032890.5(DISP1):c.1536G>A:p.Val512=	coding	Benign
1	223003347	A	G	A223003347G	DISP1	NM_032890.5(DISP1):c.1950A>G:p.Thr650=	coding	Benign
1	223003836	T	C	T223003836C	DISP1	NM_032890.5(DISP1):c.2439T>C:p.Asp813=	coding	Benign
1	223004232	A	G	A223004232G	DISP1	NM_032890.5(DISP1):c.2835A>G:p.Lys945=	coding	Benign
1	223004319	T	C	T223004319C	DISP1	NM_032890.5(DISP1):c.2922T>C:p.Tyr974=	coding	Benign
1	223004606	G	A	G223004606A	DISP1	NM_032890.5(DISP1):c.3209G>A:p.Gly1070Asp	coding	Benign
1	223004670	C	T	C223004670T	DISP1	NM_032890.5(DISP1):c.3273C>T:p.Phe1091=	coding	Benign
1	223004684	T	C	T223004684C	DISP1	NM_032890.5(DISP1):c.3287T>C:p.Met1096Thr	coding	Benign/Likely_benign
1	223004884	A	G	A223004884G	DISP1	NM_032890.5(DISP1):c.3487A>G:p.Ser1163Gly	coding	Benign
1	223005113	T	C	T223005113C	DISP1	NM_032890.5(DISP1):c.3716T>C:p.Leu1239Pro	coding	Benign
1	223005136	G	A	G223005136A	DISP1	NM_032890.5(DISP1):c.3739G>A:p.Ala1247Thr	coding	Benign
1	223005178	G	A	G223005178A	DISP1	NM_032890.5(DISP1):c.3781G>A:p.Val1261Met	coding	Benign
1	223005219	A	C	A223005219C	DISP1	NM_032890.5(DISP1):c.3822A>C:p.Pro1274=	coding	Benign
1	223005363	C	T	C223005363T	DISP1	NM_032890.5(DISP1):c.3966C>T:p.Val1322=	coding	Benign
1	223005660	C	T	C223005660T	DISP1	NM_032890.5(DISP1):c.4263C>T:p.Asp1421=	coding	Benign
1	223110495	T	C	T223110495C	TLR5	NM_003268.6(TLR5):c.2537A>G:p.Asp846Gly	coding	Benign
1	223110539	T	C	T223110539C	TLR5	NM_003268.6(TLR5):c.2493A>G:p.Lys831=	coding	Benign
1	223110778	T	C	T223110778C	TLR5	NM_003268.6(TLR5):c.2254A>G:p.Arg752Gly	coding	Benign
1	223111102	T	A	T223111102A	TLR5	NM_003268.6(TLR5):c.1930A>T:p.Ile644Phe	coding	Benign
1	223111573	G	T	G223111573T	TLR5	NM_003268.6(TLR5):c.1459C>A:p.Leu487Ile	coding	Benign
1	223111664	A	G	A223111664G	TLR5	NM_003268.6(TLR5):c.1368T>C:p.Asn456=	coding	Benign
1	223111700	G	A	G223111700A	TLR5	NM_003268.6(TLR5):c.1332C>T:p.Leu444=	coding	Benign
1	223112165	T	G	T223112165G	TLR5	NM_003268.6(TLR5):c.867A>C:p.Ser289=	coding	Benign
1	223112604	T	G	T223112604G	TLR5	NM_003268.6(TLR5):c.428A>C:p.Asn143Thr	coding	Benign
1	223112698	G	C	G223112698C	TLR5	NM_003268.6(TLR5):c.334C>G:p.Pro112Ala	coding	Benign
1	223112787	G	A	G223112787A	TLR5	NM_003268.6(TLR5):c.245C>T:p.Thr82Ile	coding	Benign
1	223712784	C	T	C223712784T	CAPN2	NM_001748.5(CAPN2):c.144C>T:p.Asp48=	coding	Benign
1	223752865	C	T	C223752865T	CAPN2	NM_001748.5(CAPN2):c.1044C>T:p.Leu348=	coding	Benign
1	223772189	A	C	A223772189C	CAPN2	NM_001748.5(CAPN2):c.2029A>C:p.Lys677Gln	coding	Benign
1	223789168	T	C	T223789168C	TP53BP2	NM_001031685.3(TP53BP2):c.3003A>G:p.Pro1001=	coding	Benign
1	223796211	G	A	G223796211A	TP53BP2	NM_001031685.3(TP53BP2):c.2328C>T:p.Tyr776=	coding	Benign
1	223798258	G	A	G223798258A	TP53BP2	NM_001031685.3(TP53BP2):c.1905C>T:p.Ser635=	coding	Benign
1	223798261	C	G	C223798261G	TP53BP2	NM_001031685.3(TP53BP2):c.1902G>C:p.Gln634His	coding	Benign
1	223798456	G	A	G223798456A	TP53BP2	NM_001031685.3(TP53BP2):c.1707C>T:p.Gly569=	coding	Benign
1	223798564	G	A	G223798564A	TP53BP2	NM_001031685.3(TP53BP2):c.1599C>T:p.Asp533=	coding	Benign
1	223802722	C	T	C223802722T	TP53BP2	NM_001031685.3(TP53BP2):c.996+9G>A	noncoding	Benign
1	223804257	G	A	G223804257A	TP53BP2	NM_001031685.3(TP53BP2):c.566C>T:p.Ala189Val	coding	Benign
1	223814261	G	A	G223814261A	TP53BP2	NM_001031685.3(TP53BP2):c.268C>T:p.Arg90Cys	coding	Benign
1	224189687	G	A	G224189687A	DEGS1	NM_003676.4(DEGS1):c.193G>A:p.Asp65Asn	coding	Benign
1	224190018	T	A	T224190018A	DEGS1	NM_003676.4(DEGS1):c.524T>A:p.Leu175Gln	coding	Benign
1	224190258	A	G	A224190258G	DEGS1	NM_003676.4(DEGS1):c.764A>G:p.Asn255Ser	coding	Pathogenic
1	224190294	A	G	A224190294G	DEGS1	NM_003676.4(DEGS1):c.800A>G:p.Asn267Ser	coding	Benign
1	224393979	T	C	T224393979C	WDR26	NM_025160.6(WDR26):c.1809A>G:p.Glu603=	coding	Benign
1	224393994	C	T	C224393994T	WDR26	NM_001379403.1(WDR26):c.2094G>A:p.Trp698Ter	coding	Pathogenic
1	224398514	C	G	C224398514G	WDR26	NM_001379403.1(WDR26):c.1944+1G>C	noncoding	Pathogenic
1	224401034	A	G	A224401034G	WDR26	NM_025160.6(WDR26):c.1335T>C:p.His445=	coding	Benign
1	224404453	C	A	C224404453A	WDR26	NM_025160.6(WDR26):c.1276G>T:p.Glu426Ter	coding	Pathogenic
1	224411426	C	T	C224411426T	WDR26	NM_001379403.1(WDR26):c.1458+1G>A	noncoding	Pathogenic
1	224419530	C	T	C224419530T	WDR26	NM_025160.6(WDR26):c.850G>A:p.Asp284Asn	coding	Pathogenic
1	224424520	A	C	A224424520C	WDR26	NM_025160.6(WDR26):c.762T>G:p.Ser254Arg	coding	Pathogenic
1	224433836	G	A	G224433836A	WDR26	NM_025160.6(WDR26):c.270C>T:p.Ala90=	coding	Benign
1	224433959	G	A	G224433959A	WDR26	NM_025160.6(WDR26):c.147C>T:p.Ser49=	coding	Benign
1	225042906	C	T	C225042906T	DNAH14	NM_001367479.1(DNAH14):c.1560C>T:p.Cys520=	coding	Benign
1	225079264	C	G	C225079264G	DNAH14	NM_001367479.1(DNAH14):c.2482C>G:p.Leu828Val	coding	Benign
1	225080404	C	A	C225080404A	DNAH14	NM_001367479.1(DNAH14):c.2792C>A:p.Ala931Asp	coding	Benign
1	225080641	A	G	A225080641G	DNAH14	NM_001367479.1(DNAH14):c.3029A>G:p.Lys1010Arg	coding	Benign
1	225080644	G	A	G225080644A	DNAH14	NM_001367479.1(DNAH14):c.3032G>A:p.Arg1011Gln	coding	Benign
1	225082707	A	T	A225082707T	DNAH14	NM_001367479.1(DNAH14):c.3295A>T:p.Asn1099Tyr	coding	Benign
1	225085546	G	T	G225085546T	DNAH14	NM_001367479.1(DNAH14):c.3330G>T:p.Met1110Ile	coding	Benign
1	225100772	T	A	T225100772A	DNAH14	NM_001367479.1(DNAH14):c.3755T>A:p.Met1252Lys	coding	Benign
1	225152718	C	G	C225152718G	DNAH14	NM_001367479.1(DNAH14):c.5031C>G:p.Leu1677=	coding	Benign
1	225252286	T	C	T225252286C	DNAH14	NM_001367479.1(DNAH14):c.6749-15T>C	noncoding	Benign
1	225257950	G	T	G225257950T	DNAH14	NM_001367479.1(DNAH14):c.6866-10G>T	noncoding	Benign
1	225290091	T	G	T225290091G	DNAH14	NM_001367479.1(DNAH14):c.8469+9T>G	noncoding	Benign
1	225318592	A	G	A225318592G	DNAH14	NM_001367479.1(DNAH14):c.9250A>G:p.Asn3084Asp	coding	Benign
1	225340481	C	A	C225340481A	DNAH14	NM_001367479.1(DNAH14):c.10458C>A:p.Asp3486Glu	coding	Benign
1	225345982	A	G	A225345982G	DNAH14	NM_001367479.1(DNAH14):c.10699A>G:p.Lys3567Glu	coding	Benign
1	225346029	T	A	T225346029A	DNAH14	NM_001367479.1(DNAH14):c.10746T>A:p.Ile3582=	coding	Benign
1	225346517	T	C	T225346517C	DNAH14	NM_001367479.1(DNAH14):c.11159T>C:p.Val3720Ala	coding	Benign
1	225346646	G	A	G225346646A	DNAH14	NM_001367479.1(DNAH14):c.11288G>A:p.Arg3763Lys	coding	Benign
1	225367810	C	T	C225367810T	DNAH14	NM_001367479.1(DNAH14):c.12096C>T:p.Ala4032=	coding	Benign
1	225367900	T	G	T225367900G	DNAH14	NM_001367479.1(DNAH14):c.12186T>G:p.Asn4062Lys	coding	Benign
1	225374683	C	T	C225374683T	DNAH14	NM_001367479.1(DNAH14):c.12319-5C>T	noncoding	Benign
1	225377313	T	C	T225377313C	DNAH14	NM_001367479.1(DNAH14):c.12593T>C:p.Leu4198Pro	coding	Benign
1	225377371	C	T	C225377371T	DNAH14	NM_001367479.1(DNAH14):c.12651C>T:p.Gly4217=	coding	Benign
1	225381539	T	G	T225381539G	DNAH14	NM_001367479.1(DNAH14):c.13037T>G:p.Phe4346Cys	coding	Benign
1	225401771	C	T	C225401771T	LBR	NM_002296.4(LBR):c.*1532G>A	noncoding	Benign
1	225401942	A	G	A225401942G	LBR	NM_002296.4(LBR):c.*1361T>C	noncoding	Benign
1	225402534	T	A	T225402534A	LBR	NM_002296.4(LBR):c.*769A>T	noncoding	Benign
1	225402973	A	C	A225402973C	LBR	NM_002296.4(LBR):c.*330T>G	noncoding	Benign
1	225403048	G	C	G225403048C	LBR	NM_002296.4(LBR):c.*255C>G	noncoding	Benign
1	225403394	C	T	C225403394T	LBR	NM_002296.4(LBR):c.1757G>A:p.Arg586His	coding	Pathogenic
1	225403403	C	A	C225403403A	LBR	NM_002296.4(LBR):c.1748G>T:p.Arg583Leu	coding	Pathogenic
1	225403403	C	T	C225403403T	LBR	NM_002296.4(LBR):c.1748G>A:p.Arg583Gln	coding	Pathogenic
1	225403445	G	C	G225403445C	LBR	NM_002296.4(LBR):c.1706C>G:p.Pro569Arg	coding	Pathogenic
1	225404451	T	C	T225404451C	LBR	NM_002296.4(LBR):c.1640A>G:p.Asn547Ser	coding	Pathogenic
1	225404452	T	C	T225404452C	LBR	NM_002296.4(LBR):c.1639A>G:p.Asn547Asp	coding	Pathogenic/Likely_pathogenic
1	225404482	A	C	A225404482C	LBR	NM_002296.4(LBR):c.1609T>G:p.Ser537Ala	coding	Benign/Likely_benign
1	225404662	C	T	C225404662T	LBR	NM_002296.4(LBR):c.1528G>A:p.Ala510Thr	coding	Benign
1	225404715	T	C	T225404715C	LBR	NM_002296.4(LBR):c.1484-9A>G	noncoding	Pathogenic
1	225411351	C	T	C225411351T	LBR	NM_002296.4(LBR):c.1174G>A:p.Gly392Arg	coding	Pathogenic
1	225412467	C	T	C225412467T	LBR	NM_002296.4(LBR):c.1071G>A:p.Ser357=	coding	Benign
1	225412579	T	C	T225412579C	LBR	NM_002296.4(LBR):c.959A>G:p.His320Arg	coding	Benign
1	225412611	G	A	G225412611A	LBR	NM_002296.4(LBR):c.927C>T:p.Ile309=	coding	Benign/Likely_benign
1	225415327	T	C	T225415327C	LBR	NM_002296.4(LBR):c.843A>G:p.Val281=	coding	Benign
1	225417980	G	A	G225417980A	LBR	NM_002296.4(LBR):c.837+4C>T	noncoding	Benign/Likely_benign
1	225418010	G	A	G225418010A	LBR	NM_002296.4(LBR):c.811C>T:p.Leu271=	coding	Benign
1	225419274	C	A	C225419274A	LBR	NM_002296.4(LBR):c.629G>T:p.Gly210Val	coding	Benign
1	225419342	G	A	G225419342A	LBR	NM_002296.4(LBR):c.561C>T:p.Tyr187=	coding	Benign
1	225419442	C	T	C225419442T	LBR	NM_002296.4(LBR):c.461G>A:p.Ser154Asn	coding	Benign
1	225419805	T	A	T225419805A	LBR	NM_002296.4(LBR):c.367-7A>T	noncoding	Benign/Likely_benign
1	225422061	G	A	G225422061A	LBR	NM_002296.4(LBR):c.366+16C>T	noncoding	Benign
1	225422087	G	A	G225422087A	LBR	NM_002296.4(LBR):c.356C>T:p.Pro119Leu	coding	Pathogenic
1	225422182	A	G	A225422182G	LBR	NM_002296.4(LBR):c.261T>C:p.Pro87=	coding	Benign
1	225422217	G	A	G225422217A	LBR	NM_002296.4(LBR):c.226C>T:p.Arg76Ter	coding	Pathogenic
1	225422279	T	C	T225422279C	LBR	NM_002296.4(LBR):c.166-2A>G	noncoding	Pathogenic
1	225423959	C	T	C225423959T	LBR	NM_002296.4(LBR):c.117G>A:p.Val39=	coding	Benign
1	225423986	G	A	G225423986A	LBR	NM_002296.4(LBR):c.90C>T:p.His30=	coding	Benign
1	225424143	C	T	C225424143T	LBR	NM_002296.4(LBR):c.-14-54G>A	noncoding	Benign
1	225828874	C	T	C225828874T	EPHX1	NM_000120.4(EPHX1):c.145C>T:p.Arg49Cys	coding	Benign
1	225831807	G	A	G225831807A	EPHX1	NM_000120.4(EPHX1):c.212G>A:p.Arg71His	coding	Benign
1	225838651	C	A	C225838651A	EPHX1	NM_000120.4(EPHX1):c.365-3C>A	noncoding	Benign
1	225839868	A	G	A225839868G	EPHX1	NM_000120.4(EPHX1):c.762A>G:p.Leu254=	coding	Benign
1	225845195	T	C	T225845195C	EPHX1	NM_000120.4(EPHX1):c.1216T>C:p.Leu406=	coding	Benign
1	225845202	C	T	C225845202T	EPHX1	NM_000120.4(EPHX1):c.1223C>T:p.Thr408Met	coding	Benign
1	225845218	G	A	G225845218A	EPHX1	NM_000120.4(EPHX1):c.1239G>A:p.Val413=	coding	Benign
1	225845278	G	A	G225845278A	EPHX1	NM_000120.4(EPHX1):c.1299G>A:p.Ala433=	coding	Benign
1	225845293	G	A	G225845293A	EPHX1	NM_000120.4(EPHX1):c.1314G>A:p.Pro438=	coding	Benign
1	225853727	C	T	C225853727T	TMEM63A	NM_014698.3(TMEM63A):c.1699G>A:p.Gly567Ser	coding	Pathogenic
1	225857010	A	T	A225857010T	TMEM63A	NM_014698.3(TMEM63A):c.1385T>A:p.Ile462Asn	coding	Pathogenic
1	225866681	T	G	T225866681G	TMEM63A	NM_014698.3(TMEM63A):c.568A>C:p.Asn190His	coding	Benign
1	225867899	C	T	C225867899T	TMEM63A	NM_014698.3(TMEM63A):c.503G>A:p.Gly168Glu	coding	Pathogenic
1	225886993	C	T	C225886993T	LEFTY1	NM_020997.4(LEFTY1):c.835G>A:p.Glu279Lys	coding	Benign
1	225887858	C	T	C225887858T	LEFTY1	NM_020997.4(LEFTY1):c.425G>A:p.Arg142Gln	coding	Benign
1	225888008	A	G	A225888008G	LEFTY1	NM_020997.4(LEFTY1):c.275T>C:p.Leu92Ser	coding	Benign
1	225920477	G	C	G225920477C	PYCR2	NM_013328.4(PYCR2):c.941C>G:p.Ala314Gly	coding	Benign
1	225920494	G	C	G225920494C	PYCR2	NM_013328.4(PYCR2):c.924C>G:p.Leu308=	coding	Benign
1	225921209	G	A	G225921209A	PYCR2	NM_013328.4(PYCR2):c.796C>T:p.Arg266Ter	coding	Pathogenic
1	225921232	A	G	A225921232G	PYCR2	NM_013328.4(PYCR2):c.773T>C:p.Val258Ala	coding	Pathogenic
1	225921254	G	A	G225921254A	PYCR2	NM_013328.4(PYCR2):c.751C>T:p.Arg251Cys	coding	Pathogenic
1	225921311	A	C	A225921311C	PYCR2	NM_013328.4(PYCR2):c.694T>G:p.Cys232Gly	coding	Pathogenic
1	225921374	A	G	A225921374G	PYCR2	NM_013328.4(PYCR2):c.634-3T>C	noncoding	Benign
1	225921590	G	A	G225921590A	PYCR2	NM_013328.4(PYCR2):c.595C>T:p.Arg199Trp	coding	Pathogenic
1	225921856	A	C	A225921856C	PYCR2	NM_013328.4(PYCR2):c.540+2T>G	noncoding	Pathogenic
1	225921999	T	C	T225921999C	PYCR2	NM_013328.4(PYCR2):c.399A>G:p.Thr133=	coding	Benign
1	225922043	G	A	G225922043A	PYCR2	NM_013328.4(PYCR2):c.355C>T:p.Arg119Cys	coding	Pathogenic/Likely_pathogenic
1	225922080	C	G	C225922080G	PYCR2	NM_013328.4(PYCR2):c.319-1G>C	coding	Pathogenic/Likely_pathogenic
1	225923700	C	A	C225923700A	PYCR2	NM_013328.4(PYCR2):c.138+1G>T	noncoding	Pathogenic
1	225923704	G	C	G225923704C	PYCR2	NM_013328.4(PYCR2):c.135C>G:p.Leu45=	coding	Benign/Likely_benign
1	225936870	G	A	G225936870A	LEFTY2	NM_003240.5(LEFTY2):c.*571C>T	noncoding	Benign
1	225937465	G	A	G225937465A	LEFTY2	NM_003240.5(LEFTY2):c.1077C>T:p.Leu359=	coding	Benign/Likely_benign
1	225937471	C	T	C225937471T	LEFTY2	NM_003240.5(LEFTY2):c.1071G>A:p.Gly357=	coding	Benign
1	225937507	G	A	G225937507A	LEFTY2	NM_003240.5(LEFTY2):c.1035C>T:p.Asn345=	coding	Benign
1	225937560	C	T	C225937560T	LEFTY2	NM_003240.5(LEFTY2):c.982G>A:p.Val328Ile	coding	Benign
1	225937639	C	T	C225937639T	LEFTY2	NM_003240.5(LEFTY2):c.903G>A:p.Pro301=	coding	Benign
1	225937669	G	A	G225937669A	LEFTY2	NM_003240.5(LEFTY2):c.873C>T:p.Tyr291=	coding	Benign
1	225937685	G	A	G225937685A	LEFTY2	NM_003240.5(LEFTY2):c.857C>T:p.Pro286Leu	coding	Benign
1	225937768	G	A	G225937768A	LEFTY2	NM_003240.5(LEFTY2):c.774C>T:p.Thr258=	coding	Benign
1	225939743	G	C	G225939743C	LEFTY2	NM_003240.5(LEFTY2):c.497+13C>G	noncoding	Benign
1	225939779	G	A	G225939779A	LEFTY2	NM_003240.5(LEFTY2):c.474C>T:p.Asn158=	coding	Benign
1	225939828	T	C	T225939828C	LEFTY2	NM_003240.5(LEFTY2):c.425A>G:p.Gln142Arg	coding	Benign
1	225939923	G	A	G225939923A	LEFTY2	NM_003240.5(LEFTY2):c.330C>T:p.Asn110=	coding	Benign
1	225939929	C	T	C225939929T	LEFTY2	NM_003240.5(LEFTY2):c.324G>A:p.Pro108=	coding	Benign/Likely_benign
1	225940927	G	A	G225940927A	LEFTY2	NM_003240.5(LEFTY2):c.214C>T:p.Arg72Cys	coding	Benign/Likely_benign
1	225940943	C	T	C225940943T	LEFTY2	NM_003240.5(LEFTY2):c.198G>A:p.Arg66=	coding	Benign
1	225940972	C	T	C225940972T	LEFTY2	NM_003240.5(LEFTY2):c.169G>A:p.Val57Met	coding	Benign/Likely_benign
1	225941202	G	A	G225941202A	LEFTY2	NM_003240.5(LEFTY2):c.-62C>T	noncoding	Benign
1	226186655	T	A	T226186655A	ACBD3	NM_022735.4(ACBD3):c.21A>T:p.Ala7=	coding	Benign
1	226233494	T	C	T226233494C	LIN9	NM_173083.3(LIN9):c.1323A>G:p.Ala441=	coding	Benign
1	226377135	G	A	G226377135A	PARP1	NM_001618.4(PARP1):c.1914C>T:p.Phe638=	coding	Benign
1	226381123	G	A	G226381123A	PARP1	NM_001618.4(PARP1):c.1245C>T:p.Leu415=	coding	Benign
1	226383066	G	A	G226383066A	PARP1	NM_001618.4(PARP1):c.1129C>T:p.Pro377Ser	coding	Benign
1	226385573	G	A	G226385573A	PARP1	NM_001618.4(PARP1):c.942C>T:p.Asp314=	coding	Benign
1	226390465	C	T	C226390465T	PARP1	NM_001618.4(PARP1):c.562G>A:p.Ala188Thr	coding	Benign
1	226392262	A	G	A226392262G	PARP1	NM_001618.4(PARP1):c.339T>C:p.Phe113=	coding	Benign
1	226634872	G	C	G226634872C	ITPKB	NM_002221.3(ITPKB):c.2640C>G:p.Ser880=	coding	Benign
1	226735683	G	A	G226735683A	ITPKB	NM_002221.3(ITPKB):c.1776C>T:p.Asn592=	coding	Benign
1	226736500	T	G	T226736500G	ITPKB	NM_002221.3(ITPKB):c.959A>C:p.Asp320Ala	coding	Benign
1	226736868	G	T	G226736868T	ITPKB	NM_002221.3(ITPKB):c.591C>A:p.Ser197Arg	coding	Benign
1	226870643	A	G	A226870643G	PSEN2	NM_000447.3(PSEN2):c.-356A>G	noncoding	Benign
1	226871336	C	T	C226871336T	PSEN2	NM_000447.3(PSEN2):c.-275C>T	noncoding	Benign
1	226875528	C	T	C226875528T	PSEN2	NM_000447.3(PSEN2):c.-43C>T	noncoding	Benign
1	226881976	T	C	T226881976C	PSEN2	NM_000447.3(PSEN2):c.69T>C:p.Ala23=	coding	Benign
1	226882036	C	T	C226882036T	PSEN2	NM_000447.3(PSEN2):c.129C>T:p.Asn43=	coding	Benign
1	226882039	T	A	T226882039A	PSEN2	NM_000447.3(PSEN2):c.132T>A:p.Thr44=	coding	Benign/Likely_benign
1	226883712	A	G	A226883712G	PSEN2	NM_000447.3(PSEN2):c.149A>G:p.Gln50Arg	coding	Benign/Likely_benign
1	226883748	G	A	G226883748A	PSEN2	NM_000447.3(PSEN2):c.185G>A:p.Arg62His	coding	Benign/Likely_benign
1	226883774	C	T	C226883774T	PSEN2	NM_000447.3(PSEN2):c.211C>T:p.Arg71Trp	coding	Benign/Likely_benign
1	226883817	C	T	C226883817T	PSEN2	NM_000447.3(PSEN2):c.254C>T:p.Ala85Val	coding	Pathogenic
1	226883824	C	T	C226883824T	PSEN2	NM_000447.3(PSEN2):c.261C>T:p.His87=	coding	Benign
1	226885545	A	C	A226885545C	PSEN2	NM_000447.3(PSEN2):c.364A>C:p.Thr122Pro	coding	Pathogenic/Likely_pathogenic
1	226885546	C	G	C226885546G	PSEN2	NM_000447.3(PSEN2):c.365C>G:p.Thr122Arg	coding	Pathogenic
1	226885547	G	A	G226885547A	PSEN2	NM_000447.3(PSEN2):c.366G>A:p.Thr122=	coding	Benign/Likely_benign
1	226885570	C	T	C226885570T	PSEN2	NM_000447.3(PSEN2):c.389C>T:p.Ser130Leu	coding	Benign/Likely_benign
1	226885603	A	T	A226885603T	PSEN2	NM_000447.3(PSEN2):c.422A>T:p.Asn141Ile	coding	Pathogenic
1	226885604	C	T	C226885604T	PSEN2	NM_000447.3(PSEN2):c.423C>T:p.Asn141=	coding	Benign
1	226885622	C	T	C226885622T	PSEN2	NM_000447.3(PSEN2):c.441C>T:p.Ser147=	coding	Benign/Likely_benign
1	226888970	T	C	T226888970C	PSEN2	NM_000447.3(PSEN2):c.708T>C:p.Ser236=	coding	Benign/Likely_benign
1	226888977	A	G	A226888977G	PSEN2	NM_000447.3(PSEN2):c.715A>G:p.Met239Val	coding	Pathogenic
1	226888979	G	A	G226888979A	PSEN2	NM_000447.3(PSEN2):c.717G>A:p.Met239Ile	coding	Pathogenic
1	226889018	G	C	G226889018C	PSEN2	NM_000447.3(PSEN2):c.756G>C:p.Ala252=	coding	Benign/Likely_benign
1	226890108	C	T	C226890108T	PSEN2	NM_000447.3(PSEN2):c.861C>T:p.Pro287=	coding	Benign/Likely_benign
1	226891294	G	T	G226891294T	PSEN2	NM_000447.3(PSEN2):c.903G>T:p.Thr301=	coding	Benign/Likely_benign
1	226894110	C	T	C226894110T	PSEN2	NM_000447.3(PSEN2):c.1176C>T:p.Phe392=	coding	Benign/Likely_benign
1	226895432	T	C	T226895432C	PSEN2	NM_000447.3(PSEN2):c.1200T>C:p.Cys400=	coding	Benign
1	226895521	C	T	C226895521T	PSEN2	NM_000447.3(PSEN2):c.1289C>T:p.Thr430Met	coding	Pathogenic
1	226895849	C	T	C226895849T	PSEN2	NM_000447.3(PSEN2):c.*270C>T	noncoding	Benign
1	226895984	G	T	G226895984T	PSEN2	NM_000447.3(PSEN2):c.*405G>T	noncoding	Benign/Likely_benign
1	226896066	G	C	G226896066C	PSEN2	NM_000447.3(PSEN2):c.*487G>C	noncoding	Benign/Likely_benign
1	226940407	T	C	T226940407C	COQ8A	NM_020247.5(COQ8A):c.-10+8T>C	noncoding	Benign/Likely_benign
1	226961463	C	T	C226961463T	COQ8A	NM_020247.5(COQ8A):c.78C>T:p.His26=	coding	Benign/Likely_benign
1	226961502	G	A	G226961502A	COQ8A	NM_020247.5(COQ8A):c.117G>A:p.Ala39=	coding	Benign
1	226961560	C	T	C226961560T	COQ8A	NM_020247.5(COQ8A):c.175C>T:p.Gln59Ter	coding	Pathogenic
1	226964691	C	T	C226964691T	COQ8A	NM_020247.5(COQ8A):c.178-309C>T	noncoding	Benign
1	226965060	C	T	C226965060T	COQ8A	NM_020247.5(COQ8A):c.238C>T:p.His80Tyr	coding	Benign/Likely_benign
1	226965077	T	G	T226965077G	COQ8A	NM_020247.5(COQ8A):c.255T>G:p.His85Gln	coding	Benign/Likely_benign
1	226965120	G	T	G226965120T	COQ8A	NM_020247.5(COQ8A):c.298G>T:p.Asp100Tyr	coding	Benign/Likely_benign
1	226965206	C	T	C226965206T	COQ8A	NM_020247.5(COQ8A):c.384C>T:p.Ala128=	coding	Benign/Likely_benign
1	226965700	G	A	G226965700A	COQ8A	NM_020247.5(COQ8A):c.618G>A:p.Val206=	coding	Benign/Likely_benign
1	226965719	C	T	C226965719T	COQ8A	NM_020247.5(COQ8A):c.637C>T:p.Arg213Trp	coding	Pathogenic
1	226965746	G	A	G226965746A	COQ8A	NM_020247.5(COQ8A):c.655+9G>A	noncoding	Benign
1	226965995	T	C	T226965995C	COQ8A	NM_020247.5(COQ8A):c.655+258T>C	noncoding	Benign
1	226977448	G	T	G226977448T	COQ8A	NM_020247.5(COQ8A):c.656-1G>T	noncoding	Pathogenic
1	226977783	T	C	T226977783C	COQ8A	NM_020247.5(COQ8A):c.730+260T>C	noncoding	Benign
1	226977804	T	C	T226977804C	COQ8A	NM_020247.5(COQ8A):c.730+281T>C	noncoding	Benign
1	226982018	C	T	C226982018T	COQ8A	NM_020247.5(COQ8A):c.731-9C>T	noncoding	Benign
1	226982111	G	A	G226982111A	COQ8A	NM_020247.5(COQ8A):c.815G>A:p.Gly272Asp	coding	Pathogenic
1	226982111	G	T	G226982111T	COQ8A	NM_020247.5(COQ8A):c.815G>T:p.Gly272Val	coding	Pathogenic
1	226982842	C	G	C226982842G	COQ8A	NM_020247.5(COQ8A):c.940-52C>G	noncoding	Benign
1	226982902	C	T	C226982902T	COQ8A	NM_020247.5(COQ8A):c.948C>T:p.Leu316=	coding	Benign
1	226982947	C	T	C226982947T	COQ8A	NM_020247.5(COQ8A):c.993C>T:p.Phe331=	coding	Benign/Likely_benign
1	226982974	C	A	C226982974A	COQ8A	NM_020247.5(COQ8A):c.1020C>A:p.Ser340=	coding	Benign
1	226982996	C	T	C226982996T	COQ8A	NM_020247.5(COQ8A):c.1042C>T:p.Arg348Ter	coding	Pathogenic
1	226983007	C	T	C226983007T	COQ8A	NM_020247.5(COQ8A):c.1053C>T:p.Gly351=	coding	Benign/Likely_benign
1	226983067	T	C	T226983067C	COQ8A	NM_020247.5(COQ8A):c.1080+33T>C	noncoding	Benign
1	226983509	G	A	G226983509A	COQ8A	NM_020247.5(COQ8A):c.1081-43G>A	noncoding	Benign
1	226983607	T	A	T226983607A	COQ8A	NM_020247.5(COQ8A):c.1136T>A:p.Leu379Ter	coding	Pathogenic
1	226983711	T	A	T226983711A	COQ8A	NM_020247.5(COQ8A):c.1163-50T>A	noncoding	Benign
1	226983783	C	T	C226983783T	COQ8A	NM_020247.5(COQ8A):c.1185C>T:p.Ile395=	coding	Benign/Likely_benign
1	226983826	C	T	C226983826T	COQ8A	NM_020247.5(COQ8A):c.1228C>T:p.Arg410Ter	coding	Pathogenic
1	226984237	T	C	T226984237C	COQ8A	NM_020247.5(COQ8A):c.1398+2T>C	noncoding	Pathogenic
1	226984536	C	T	C226984536T	COQ8A	NM_020247.5(COQ8A):c.1399-12C>T	noncoding	Benign
1	226984589	C	T	C226984589T	COQ8A	NM_020247.5(COQ8A):c.1440C>T:p.Phe480=	coding	Benign
1	226984656	G	A	G226984656A	COQ8A	NM_020247.5(COQ8A):c.1506+1G>A	coding	Pathogenic
1	226984817	C	T	C226984817T	COQ8A	NM_020247.5(COQ8A):c.1507-59C>T	noncoding	Benign
1	226984892	T	C	T226984892C	COQ8A	NM_020247.5(COQ8A):c.1523T>C:p.Phe508Ser	coding	Pathogenic
1	226984910	A	G	A226984910G	COQ8A	NM_020247.5(COQ8A):c.1541A>G:p.Tyr514Cys	coding	Pathogenic
1	226984923	C	T	C226984923T	COQ8A	NM_020247.5(COQ8A):c.1554C>T:p.Phe518=	coding	Benign
1	226985202	G	A	G226985202A	COQ8A	NM_020247.5(COQ8A):c.1573-52G>A	noncoding	Benign
1	226985326	G	A	G226985326A	COQ8A	NM_020247.5(COQ8A):c.1645G>A:p.Gly549Ser	coding	Pathogenic
1	226985332	G	A	G226985332A	COQ8A	NM_020247.5(COQ8A):c.1651G>A:p.Glu551Lys	coding	Pathogenic/Likely_pathogenic
1	226986191	T	A	T226986191A	COQ8A	NM_020247.5(COQ8A):c.1660-262T>A	noncoding	Benign
1	226986354	T	C	T226986354C	COQ8A	NM_020247.5(COQ8A):c.1660-99T>C	noncoding	Benign
1	226986421	C	G	C226986421G	COQ8A	NM_020247.5(COQ8A):c.1660-32C>G	noncoding	Benign
1	226986444	T	C	T226986444C	COQ8A	NM_020247.5(COQ8A):c.1660-9T>C	noncoding	Benign
1	226986495	G	T	G226986495T	COQ8A	NM_020247.5(COQ8A):c.1702G>T:p.Glu568Ter	coding	Pathogenic
1	226986509	T	C	T226986509C	COQ8A	NM_020247.5(COQ8A):c.1716T>C:p.Ser572=	coding	Benign
1	226986590	C	T	C226986590T	COQ8A	NM_020247.5(COQ8A):c.1797C>T:p.Leu599=	coding	Benign/Likely_benign
1	226986598	C	T	C226986598T	COQ8A	NM_020247.5(COQ8A):c.1805C>T:p.Pro602Leu	coding	Pathogenic
1	226986617	C	T	C226986617T	COQ8A	NM_020247.5(COQ8A):c.1824C>T:p.Ser608=	coding	Benign/Likely_benign
1	226986637	G	A	G226986637A	COQ8A	NM_020247.5(COQ8A):c.1844G>A:p.Gly615Asp	coding	Pathogenic
1	226986669	C	T	C226986669T	COQ8A	NM_020247.5(COQ8A):c.1876C>T:p.Arg626Cys	coding	Benign/Likely_benign
1	226986707	C	T	C226986707T	COQ8A	NM_020247.5(COQ8A):c.1914C>T:p.Ser638=	coding	Benign/Likely_benign
1	226986746	G	A	G226986746A	COQ8A	NM_020247.5(COQ8A):c.*9G>A	noncoding	Benign/Likely_benign
1	226986870	G	A	G226986870A	COQ8A	NM_020247.5(COQ8A):c.*133G>A	noncoding	Benign/Likely_benign
1	226986967	G	A	G226986967A	COQ8A	NM_020247.5(COQ8A):c.*230G>A	noncoding	Benign/Likely_benign
1	226987201	G	A	G226987201A	COQ8A	NM_020247.5(COQ8A):c.*464G>A	noncoding	Benign
1	226987418	G	A	G226987418A	COQ8A	NM_020247.5(COQ8A):c.*681G>A	noncoding	Benign/Likely_benign
1	226987527	A	G	A226987527G	COQ8A	NM_020247.5(COQ8A):c.*790A>G	noncoding	Benign/Likely_benign
1	226987552	C	T	C226987552T	COQ8A	NM_020247.4(COQ8A):c.*815C>T	noncoding	Benign
1	226994973	G	A	G226994973A	CDC42BPA	NM_003607.4(CDC42BPA):c.4878C>T:p.Ser1626=	coding	Benign
1	227030478	A	C	A227030478C	CDC42BPA	NM_003607.4(CDC42BPA):c.3671-8T>G	noncoding	Benign
1	227031375	C	T	C227031375T	CDC42BPA	NM_003607.4(CDC42BPA):c.3593G>A:p.Arg1198His	coding	Benign
1	227035507	C	T	C227035507T	CDC42BPA	NM_003607.4(CDC42BPA):c.3195G>A:p.Gln1065=	coding	Benign
1	227073947	C	T	C227073947T	CDC42BPA	NM_003607.4(CDC42BPA):c.2652G>A:p.Ser884=	coding	Benign
1	227147383	T	C	T227147383C	CDC42BPA	NM_003607.4(CDC42BPA):c.870A>G:p.Thr290=	coding	Benign
1	227160544	G	A	G227160544A	CDC42BPA	NM_003607.4(CDC42BPA):c.692C>T:p.Thr231Met	coding	Benign
1	227733552	G	A	G227733552A	JMJD4	NM_023007.2(JMJD4):c.822C>T:p.Tyr274=	coding	Benign
1	227815735	G	A	G227815735A	PRSS38	NM_183062.2(PRSS38):c.19G>A:p.Val7Ile	coding	Benign
1	227816106	C	T	C227816106T	PRSS38	NM_183062.2(PRSS38):c.165C>T:p.Ser55=	coding	Benign
1	227816139	G	A	G227816139A	PRSS38	NM_183062.2(PRSS38):c.198G>A:p.Ala66=	coding	Benign
1	227816142	C	T	C227816142T	PRSS38	NM_183062.2(PRSS38):c.201C>T:p.Pro67=	coding	Benign
1	227816170	G	A	G227816170A	PRSS38	NM_183062.2(PRSS38):c.229G>A:p.Val77Met	coding	Benign
1	227816178	C	T	C227816178T	PRSS38	NM_183062.2(PRSS38):c.237C>T:p.Tyr79=	coding	Benign
1	227816258	C	T	C227816258T	PRSS38	NM_183062.2(PRSS38):c.311+6C>T	noncoding	Benign
1	227817274	A	T	A227817274T	PRSS38	NM_183062.2(PRSS38):c.377A>T:p.His126Leu	coding	Benign
1	227845540	C	T	C227845540T	PRSS38	NM_183062.2(PRSS38):c.654C>T:p.Tyr218=	coding	Benign
1	227924333	C	T	C227924333T	WNT9A	NM_003395.4(WNT9A):c.420G>A:p.Ala140=	coding	Benign
1	228050742	G	A	G228050742A	WNT3A	NM_033131.4(WNT3A):c.400G>A:p.Ala134Thr	coding	Benign
1	228050855	C	T	C228050855T	WNT3A	NM_033131.4(WNT3A):c.513C>T:p.Asp171=	coding	Benign
1	228059342	C	T	C228059342T	WNT3A	NM_033131.4(WNT3A):c.936C>T:p.Cys312=	coding	Benign
1	228097217	T	C	T228097217C	ARF1	NM_001658.4(ARF1):c.103T>C:p.Tyr35His	coding	Pathogenic
1	228097627	G	A	G228097627A	ARF1	NM_001658.4(ARF1):c.296G>A:p.Arg99His	coding	Pathogenic
1	228097710	A	G	A228097710G	ARF1	NM_001658.4(ARF1):c.379A>G:p.Lys127Glu	coding	Pathogenic
1	228107668	C	T	C228107668T	MRPL55	NM_181463.3(MRPL55):c.228G>A:p.Ala76=	coding	Benign
1	228149857	A	G	A228149857G	GJC2	NM_020435.3(GJC2):c.-170A>G	noncoding	Pathogenic
1	228149860	A	G	A228149860G	GJC2	NM_020435.3(GJC2):c.-167A>G	noncoding	Pathogenic
1	228157745	G	C	G228157745C	GJC2	NM_020435.4(GJC2):c.-14G>C	noncoding	Benign
1	228157753	G	C	G228157753C	GJC2	NM_020435.4(GJC2):c.-6G>C	noncoding	Benign
1	228157838	G	A	G228157838A	GJC2	NM_020435.4(GJC2):c.80G>A:p.Trp27Ter	coding	Pathogenic
1	228157866	C	G	C228157866G	GJC2	NM_020435.4(GJC2):c.108C>G:p.Ile36Met	coding	Pathogenic
1	228157866	C	T	C228157866T	GJC2	NM_020435.4(GJC2):c.108C>T:p.Ile36=	coding	Benign/Likely_benign
1	228157901	C	T	C228157901T	GJC2	NM_020435.4(GJC2):c.143C>T:p.Ser48Leu	coding	Pathogenic
1	228157905	C	T	C228157905T	GJC2	NM_020435.4(GJC2):c.147C>T:p.Asp49=	coding	Benign/Likely_benign
1	228157906	G	T	G228157906T	GJC2	NM_020435.4(GJC2):c.148G>T:p.Glu50Ter	coding	Pathogenic
1	228158026	C	T	C228158026T	GJC2	NM_020435.4(GJC2):c.268C>T:p.Pro90Ser	coding	Pathogenic
1	228158286	G	A	G228158286A	GJC2	NM_020435.4(GJC2):c.528G>A:p.Glu176=	coding	Benign
1	228158352	C	T	C228158352T	GJC2	NM_020435.4(GJC2):c.594C>T:p.His198=	coding	Benign
1	228158476	C	T	C228158476T	GJC2	NM_020435.4(GJC2):c.718C>T:p.Arg240Ter	coding	Pathogenic
1	228158536	C	T	C228158536T	GJC2	NM_020435.4(GJC2):c.778C>T:p.Arg260Cys	coding	Pathogenic
1	228158545	G	A	G228158545A	GJC2	NM_020435.4(GJC2):c.787G>A:p.Glu263Lys	coding	Pathogenic
1	228158572	T	G	T228158572G	GJC2	NM_020435.4(GJC2):c.814T>G:p.Tyr272Asp	coding	Pathogenic
1	228158615	T	C	T228158615C	GJC2	NM_020435.4(GJC2):c.857T>C:p.Met286Thr	coding	Pathogenic
1	228158724	G	C	G228158724C	GJC2	NM_020435.4(GJC2):c.966G>C:p.Ala322=	coding	Benign
1	228158957	C	A	C228158957A	GJC2	NM_020435.4(GJC2):c.1199C>A:p.Ala400Glu	coding	Pathogenic
1	228165950	G	C	G228165950C	IBA57	NM_001010867.4(IBA57):c.134G>C:p.Gly45Ala	coding	Benign
1	228165966	C	A	C228165966A	IBA57	NM_001010867.4(IBA57):c.150C>A:p.Cys50Ter	coding	Pathogenic
1	228166026	G	C	G228166026C	IBA57	NM_001010867.4(IBA57):c.210G>C:p.Leu70=	coding	Benign
1	228166080	C	G	C228166080G	IBA57	NM_001010867.4(IBA57):c.264C>G:p.Ala88=	coding	Benign/Likely_benign
1	228166095	C	G	C228166095G	IBA57	NM_001010867.4(IBA57):c.279C>G:p.Arg93=	coding	Benign/Likely_benign
1	228166102	T	C	T228166102C	IBA57	NM_001010867.4(IBA57):c.286T>C:p.Tyr96His	coding	Pathogenic
1	228166132	A	G	A228166132G	IBA57	NM_001010867.4(IBA57):c.316A>G:p.Thr106Ala	coding	Pathogenic
1	228174512	C	G	C228174512G	IBA57	NM_001010867.4(IBA57):c.342-180C>G	noncoding	Benign
1	228174685	C	A	C228174685A	IBA57	NM_001010867.4(IBA57):c.342-7C>A	noncoding	Benign
1	228174786	C	T	C228174786T	IBA57	NM_001010867.4(IBA57):c.436C>T:p.Arg146Trp	coding	Pathogenic/Likely_pathogenic
1	228174812	C	T	C228174812T	IBA57	NM_001010867.4(IBA57):c.462C>T:p.His154=	coding	Benign
1	228174936	T	G	T228174936G	IBA57	NM_001010867.4(IBA57):c.586T>G:p.Trp196Gly	coding	Pathogenic
1	228174981	G	A	G228174981A	IBA57	NM_001010867.4(IBA57):c.631G>A:p.Gly211Ser	coding	Benign
1	228174995	C	T	C228174995T	IBA57	NM_001010867.4(IBA57):c.645C>T:p.Asp215=	coding	Benign/Likely_benign
1	228175028	A	G	A228175028G	IBA57	NM_001010867.4(IBA57):c.678A>G:p.Gln226=	coding	Pathogenic
1	228175128	C	T	C228175128T	IBA57	NM_001010867.4(IBA57):c.686C>T:p.Pro229Leu	coding	Pathogenic
1	228175139	C	T	C228175139T	IBA57	NM_001010867.4(IBA57):c.697C>T:p.Arg233Ter	coding	Pathogenic
1	228175148	C	T	C228175148T	IBA57	NM_001010867.4(IBA57):c.706C>T:p.Pro236Ser	coding	Pathogenic
1	228175382	C	T	C228175382T	IBA57	NM_001010867.4(IBA57):c.940C>T:p.Gln314Ter	coding	Pathogenic
1	228175383	A	C	A228175383C	IBA57	NM_001010867.4(IBA57):c.941A>C:p.Gln314Pro	coding	Pathogenic
1	228175422	T	C	T228175422C	IBA57	NM_001010867.4(IBA57):c.980T>C:p.Ile327Thr	coding	Benign
1	228175532	G	A	G228175532A	IBA57	NM_001010867.4(IBA57):c.*19G>A	noncoding	Benign
1	228211927	G	A	G228211927A	OBSCN	NM_001271223.2(OBSCN):c.144G>A:p.Gln48=	coding	Benign
1	228213628	C	T	C228213628T	OBSCN	NM_001271223.2(OBSCN):c.1176C>T:p.Arg392=	coding	Benign
1	228215633	C	T	C228215633T	OBSCN	NM_001271223.2(OBSCN):c.1899C>T:p.Ser633=	coding	Benign
1	228215786	C	T	C228215786T	OBSCN	NM_001271223.2(OBSCN):c.2052C>T:p.Phe684=	coding	Benign
1	228216596	G	A	G228216596A	OBSCN	NM_001271223.2(OBSCN):c.2271G>A:p.Ser757=	coding	Benign
1	228216653	C	T	C228216653T	OBSCN	NM_001271223.2(OBSCN):c.2328C>T:p.Tyr776=	coding	Benign
1	228217062	C	T	C228217062T	OBSCN	NM_001271223.2(OBSCN):c.2427C>T:p.Ala809=	coding	Benign
1	228217163	G	A	G228217163A	OBSCN	NM_001271223.2(OBSCN):c.2528G>A:p.Arg843His	coding	Benign
1	228224494	C	T	C228224494T	OBSCN	NM_001271223.2(OBSCN):c.2965C>T:p.Arg989Cys	coding	Benign
1	228224496	C	T	C228224496T	OBSCN	NM_001271223.2(OBSCN):c.2967C>T:p.Arg989=	coding	Benign
1	228224628	A	G	A228224628G	OBSCN	NM_001271223.2(OBSCN):c.3099A>G:p.Thr1033=	coding	Benign
1	228224637	G	A	G228224637A	OBSCN	NM_001271223.2(OBSCN):c.3108G>A:p.Thr1036=	coding	Benign
1	228224670	G	A	G228224670A	OBSCN	NM_001271223.2(OBSCN):c.3141G>A:p.Ala1047=	coding	Benign
1	228224691	C	T	C228224691T	OBSCN	NM_001271223.2(OBSCN):c.3162C>T:p.Cys1054=	coding	Benign
1	228243265	C	T	C228243265T	OBSCN	NM_001271223.2(OBSCN):c.3288C>T:p.Cys1096=	coding	Benign
1	228243333	A	G	A228243333G	OBSCN	NM_001271223.2(OBSCN):c.3356A>G:p.Lys1119Arg	coding	Benign
1	228244346	G	T	G228244346T	OBSCN	NM_001271223.2(OBSCN):c.3532G>T:p.Ala1178Ser	coding	Benign
1	228245672	T	C	T228245672C	OBSCN	NM_001271223.2(OBSCN):c.4017T>C:p.Phe1339=	coding	Benign
1	228245675	A	C	A228245675C	OBSCN	NM_001271223.2(OBSCN):c.4020A>C:p.Gln1340His	coding	Benign
1	228250145	G	A	G228250145A	OBSCN	NM_001271223.2(OBSCN):c.4490G>A:p.Arg1497Gln	coding	Benign
1	228250197	C	T	C228250197T	OBSCN	NM_001271223.2(OBSCN):c.4542C>T:p.Cys1514=	coding	Benign
1	228256684	T	C	T228256684C	OBSCN	NM_001271223.2(OBSCN):c.4619T>C:p.Val1540Ala	coding	Benign
1	228256862	G	A	G228256862A	OBSCN	NM_001271223.2(OBSCN):c.4797G>A:p.Ala1599=	coding	Benign
1	228264240	C	T	C228264240T	OBSCN	NM_001271223.2(OBSCN):c.5262C>T:p.Asp1754=	coding	Benign
1	228273910	C	T	C228273910T	OBSCN	NM_001271223.2(OBSCN):c.6403C>T:p.Arg2135Cys	coding	Benign
1	228273914	G	A	G228273914A	OBSCN	NM_001271223.2(OBSCN):c.6407G>A:p.Arg2136His	coding	Benign
1	228273954	C	T	C228273954T	OBSCN	NM_001271223.2(OBSCN):c.6447C>T:p.His2149=	coding	Benign
1	228274676	G	A	G228274676A	OBSCN	NM_001271223.2(OBSCN):c.6913G>A:p.Val2305Met	coding	Benign
1	228275983	C	T	C228275983T	OBSCN	NM_001271223.2(OBSCN):c.7302C>T:p.Cys2434=	coding	Benign
1	228276554	T	C	T228276554C	OBSCN	NM_001271223.2(OBSCN):c.7450T>C:p.Trp2484Arg	coding	Benign
1	228276566	G	T	G228276566T	OBSCN	NM_001271223.2(OBSCN):c.7462G>T:p.Gly2488Cys	coding	Benign
1	228276932	C	G	C228276932G	OBSCN	NM_001271223.2(OBSCN):c.7615C>G:p.Leu2539Val	coding	Benign
1	228277299	C	T	C228277299T	OBSCN	NM_001271223.2(OBSCN):c.7865C>T:p.Ser2622Phe	coding	Benign
1	228278885	C	T	C228278885T	OBSCN	NM_001271223.2(OBSCN):c.8343C>T:p.His2781=	coding	Benign
1	228279179	A	G	A228279179G	OBSCN	NM_001271223.2(OBSCN):c.8418A>G:p.Gln2806=	coding	Benign
1	228279371	C	G	C228279371G	OBSCN	NM_001271223.2(OBSCN):c.8610C>G:p.Thr2870=	coding	Benign
1	228279378	A	T	A228279378T	OBSCN	NM_001271223.2(OBSCN):c.8617A>T:p.Thr2873Ser	coding	Benign
1	228279386	C	T	C228279386T	OBSCN	NM_001271223.2(OBSCN):c.8625C>T:p.Thr2875=	coding	Benign
1	228279392	C	T	C228279392T	OBSCN	NM_001271223.2(OBSCN):c.8631C>T:p.Pro2877=	coding	Benign
1	228279843	G	A	G228279843A	OBSCN	NM_001271223.2(OBSCN):c.8706G>A:p.Arg2902=	coding	Benign
1	228280736	G	A	G228280736A	OBSCN	NM_001271223.2(OBSCN):c.9424G>A:p.Ala3142Thr	coding	Benign
1	228282120	G	A	G228282120A	OBSCN	NM_001271223.2(OBSCN):c.9672G>A:p.Val3224=	coding	Benign
1	228283063	C	T	C228283063T	OBSCN	NM_001271223.2(OBSCN):c.9803C>T:p.Ala3268Val	coding	Benign
1	228283079	G	A	G228283079A	OBSCN	NM_001271223.2(OBSCN):c.9819G>A:p.Val3273=	coding	Benign
1	228283102	G	A	G228283102A	OBSCN	NM_001271223.2(OBSCN):c.9842G>A:p.Arg3281Gln	coding	Benign
1	228283217	C	T	C228283217T	OBSCN	NM_001271223.2(OBSCN):c.9957C>T:p.Leu3319=	coding	Benign
1	228286258	T	G	T228286258G	OBSCN	NM_001271223.2(OBSCN):c.10472T>G:p.Val3491Gly	coding	Benign
1	228286331	G	A	G228286331A	OBSCN	NM_001271223.2(OBSCN):c.10545G>A:p.Ser3515=	coding	Benign
1	228286930	T	C	T228286930C	OBSCN	NM_001271223.2(OBSCN):c.10722T>C:p.His3574=	coding	Benign
1	228287893	G	A	G228287893A	OBSCN	NM_001271223.2(OBSCN):c.11031G>A:p.Pro3677=	coding	Benign
1	228287923	C	T	C228287923T	OBSCN	NM_001271223.2(OBSCN):c.11061C>T:p.Phe3687=	coding	Benign
1	228288253	C	T	C228288253T	OBSCN	NM_001271223.2(OBSCN):c.11291C>T:p.Ala3764Val	coding	Benign
1	228288719	C	T	C228288719T	OBSCN	NM_001271223.2(OBSCN):c.11457C>T:p.Pro3819=	coding	Benign
1	228288783	G	A	G228288783A	OBSCN	NM_001271223.2(OBSCN):c.11521G>A:p.Gly3841Arg	coding	Benign
1	228288800	G	T	G228288800T	OBSCN	NM_001271223.2(OBSCN):c.11538G>T:p.Leu3846=	coding	Benign
1	228288821	G	A	G228288821A	OBSCN	NM_001271223.2(OBSCN):c.11559G>A:p.Val3853=	coding	Benign
1	228292107	G	A	G228292107A	OBSCN	NM_001271223.2(OBSCN):c.11836G>A:p.Glu3946Lys	coding	Benign
1	228292124	C	T	C228292124T	OBSCN	NM_001271223.2(OBSCN):c.11853C>T:p.Cys3951=	coding	Benign
1	228292616	C	T	C228292616T	OBSCN	NM_001271223.2(OBSCN):c.11984C>T:p.Pro3995Leu	coding	Benign
1	228292740	G	A	G228292740A	OBSCN	NM_001271223.2(OBSCN):c.12108G>A:p.Ser4036=	coding	Benign
1	228293366	G	C	G228293366C	OBSCN	NM_001271223.2(OBSCN):c.12168G>C:p.Lys4056Asn	coding	Benign
1	228294367	T	C	T228294367C	OBSCN	NM_001271223.2(OBSCN):c.12634T>C:p.Ser4212Pro	coding	Benign
1	228307109	G	A	G228307109A	OBSCN	NM_001271223.2(OBSCN):c.15006G>A:p.Ala5002=	coding	Benign
1	228307411	G	A	G228307411A	OBSCN	NM_001271223.2(OBSCN):c.15217G>A:p.Glu5073Lys	coding	Benign
1	228309121	G	A	G228309121A	OBSCN	NM_001271223.2(OBSCN):c.15633G>A:p.Glu5211=	coding	Benign
1	228309154	G	A	G228309154A	OBSCN	NM_001271223.2(OBSCN):c.15666G>A:p.Gln5222=	coding	Benign
1	228315865	G	A	G228315865A	OBSCN	NM_001271223.2(OBSCN):c.15902G>A:p.Arg5301Gln	coding	Benign
1	228315978	A	G	A228315978G	OBSCN	NM_001271223.2(OBSCN):c.16015A>G:p.Thr5339Ala	coding	Benign
1	228316785	G	A	G228316785A	OBSCN	NM_001271223.2(OBSCN):c.16233G>A:p.Thr5411=	coding	Benign
1	228316803	C	T	C228316803T	OBSCN	NM_001271223.2(OBSCN):c.16251C>T:p.Pro5417=	coding	Benign
1	228316873	G	A	G228316873A	OBSCN	NM_001271223.2(OBSCN):c.16321G>A:p.Ala5441Thr	coding	Benign
1	228316885	C	G	C228316885G	OBSCN	NM_001271223.2(OBSCN):c.16333C>G:p.His5445Asp	coding	Benign
1	228316913	A	T	A228316913T	OBSCN	NM_001271223.2(OBSCN):c.16361A>T:p.Gln5454Leu	coding	Benign
1	228316949	G	A	G228316949A	OBSCN	NM_001271223.2(OBSCN):c.16397G>A:p.Arg5466His	coding	Benign
1	228317534	A	G	A228317534G	OBSCN	NM_001271223.2(OBSCN):c.16503A>G:p.Ala5501=	coding	Benign
1	228317574	C	T	C228317574T	OBSCN	NM_001271223.2(OBSCN):c.16543C>T:p.Arg5515Cys	coding	Benign
1	228317730	C	T	C228317730T	OBSCN	NM_001271223.2(OBSCN):c.16699C>T:p.Leu5567=	coding	Benign
1	228318024	A	C	A228318024C	OBSCN	NM_001271223.2(OBSCN):c.16853A>C:p.Glu5618Ala	coding	Benign
1	228318049	C	T	C228318049T	OBSCN	NM_001271223.2(OBSCN):c.16878C>T:p.Phe5626=	coding	Benign
1	228319055	C	T	C228319055T	OBSCN	NM_001271223.2(OBSCN):c.17174C>T:p.Ser5725Leu	coding	Benign
1	228319060	C	T	C228319060T	OBSCN	NM_001271223.2(OBSCN):c.17179C>T:p.Arg5727Cys	coding	Benign
1	228319211	T	C	T228319211C	OBSCN	NM_001271223.2(OBSCN):c.17330T>C:p.Leu5777Pro	coding	Benign
1	228321888	G	A	G228321888A	OBSCN	NM_001271223.2(OBSCN):c.17918G>A:p.Arg5973Gln	coding	Benign
1	228321909	C	T	C228321909T	OBSCN	NM_001271223.2(OBSCN):c.17939C>T:p.Pro5980Leu	coding	Benign
1	228321976	C	T	C228321976T	OBSCN	NM_001271223.2(OBSCN):c.18006C>T:p.Pro6002=	coding	Benign
1	228322032	C	T	C228322032T	OBSCN	NM_001271223.2(OBSCN):c.18062C>T:p.Ala6021Val	coding	Benign
1	228323548	C	T	C228323548T	OBSCN	NM_001271223.2(OBSCN):c.18465C>T:p.Arg6155=	coding	Benign
1	228333294	G	A	G228333294A	OBSCN	NM_001271223.2(OBSCN):c.18698G>A:p.Arg6233His	coding	Benign
1	228333301	C	A	C228333301A	OBSCN	NM_001271223.2(OBSCN):c.18705C>A:p.Ala6235=	coding	Benign
1	228335075	C	A	C228335075A	OBSCN	NM_001271223.2(OBSCN):c.19058-5C>A	noncoding	Benign
1	228338877	T	A	T228338877A	OBSCN	NM_001271223.2(OBSCN):c.19980T>A:p.Ser6660Arg	coding	Benign
1	228339012	C	T	C228339012T	OBSCN	NM_001271223.2(OBSCN):c.20115C>T:p.Gly6705=	coding	Benign
1	228339984	C	T	C228339984T	OBSCN	NM_001271223.2(OBSCN):c.20169C>T:p.Asp6723=	coding	Benign
1	228340048	C	T	C228340048T	OBSCN	NM_001271223.2(OBSCN):c.20233C>T:p.Arg6745Cys	coding	Benign
1	228340597	T	C	T228340597C	OBSCN	NM_001271223.2(OBSCN):c.20378T>C:p.Val6793Ala	coding	Benign
1	228340822	G	A	G228340822A	OBSCN	NM_001271223.2(OBSCN):c.20502G>A:p.Lys6834=	coding	Benign
1	228340848	A	G	A228340848G	OBSCN	NM_001271223.2(OBSCN):c.20528A>G:p.Tyr6843Cys	coding	Benign
1	228342147	C	T	C228342147T	OBSCN	NM_001271223.2(OBSCN):c.20934C>T:p.Ala6978=	coding	Benign
1	228350935	G	T	G228350935T	OBSCN	NM_001271223.2(OBSCN):c.21282G>T:p.Pro7094=	coding	Benign
1	228351333	C	T	C228351333T	OBSCN	NM_001271223.2(OBSCN):c.21303C>T:p.Asp7101=	coding	Benign
1	228359990	C	T	C228359990T	OBSCN	NM_001271223.2(OBSCN):c.21533-2586C>T	coding	Benign
1	228360212	G	A	G228360212A	OBSCN	NM_001271223.2(OBSCN):c.21533-2364G>A	coding	Benign
1	228360411	C	T	C228360411T	OBSCN	NM_001271223.2(OBSCN):c.21533-2165C>T	coding	Benign
1	228360596	G	A	G228360596A	OBSCN	NM_001271223.2(OBSCN):c.21533-1980G>A	coding	Benign
1	228360659	G	A	G228360659A	OBSCN	NM_001271223.2(OBSCN):c.21533-1917G>A	coding	Benign
1	228360743	G	A	G228360743A	OBSCN	NM_001271223.2(OBSCN):c.21533-1833G>A	coding	Benign
1	228367895	C	T	C228367895T	OBSCN	NM_001271223.2(OBSCN):c.22509C>T:p.Ser7503=	coding	Benign
1	228367918	A	T	A228367918T	OBSCN	NM_001271223.2(OBSCN):c.22532A>T:p.Tyr7511Phe	coding	Benign
1	228371172	C	T	C228371172T	OBSCN	NM_001271223.2(OBSCN):c.23265C>T:p.Asn7755=	coding	Benign
1	228371178	C	T	C228371178T	OBSCN	NM_001271223.2(OBSCN):c.23271C>T:p.Leu7757=	coding	Benign
1	228371257	C	T	C228371257T	OBSCN	NM_001271223.2(OBSCN):c.23350C>T:p.Arg7784Trp	coding	Benign
1	228372028	C	A	C228372028A	OBSCN	NM_001271223.2(OBSCN):c.24121C>A:p.Pro8041Thr	coding	Benign
1	228372096	T	C	T228372096C	OBSCN	NM_001271223.2(OBSCN):c.24189T>C:p.Pro8063=	coding	Benign
1	228372135	A	G	A228372135G	OBSCN	NM_001271223.2(OBSCN):c.24228A>G:p.Ser8076=	coding	Benign
1	228372232	A	T	A228372232T	OBSCN	NM_001271223.2(OBSCN):c.24325A>T:p.Thr8109Ser	coding	Benign
1	228372333	C	T	C228372333T	OBSCN	NM_001271223.2(OBSCN):c.24426C>T:p.Tyr8142=	coding	Benign
1	228372480	G	A	G228372480A	OBSCN	NM_001271223.2(OBSCN):c.24573G>A:p.Ser8191=	coding	Benign
1	228372588	A	G	A228372588G	OBSCN	NM_001271223.2(OBSCN):c.24681A>G:p.Pro8227=	coding	Benign
1	228372891	A	G	A228372891G	OBSCN	NM_001271223.2(OBSCN):c.24984A>G:p.Ser8328=	coding	Benign
1	228376098	C	T	C228376098T	OBSCN	NM_001271223.2(OBSCN):c.25748C>T:p.Thr8583Met	coding	Benign
1	228377624	C	T	C228377624T	OBSCN	NM_001271223.2(OBSCN):c.26286C>T:p.Leu8762=	coding	Benign
1	228378686	G	A	G228378686A	OBSCN	NM_001271223.2(OBSCN):c.26663G>A:p.Arg8888Gln	coding	Benign
1	228394993	C	T	C228394993T	TRIM11	NM_145214.3(TRIM11):c.1119G>A:p.Ala373=	coding	Benign
1	228402165	C	A	C228402165A	TRIM11	NM_145214.3(TRIM11):c.409-4G>T	noncoding	Benign
1	228413805	C	T	C228413805T	TRIM17	NM_016102.4(TRIM17):c.517G>A:p.Glu173Lys	coding	Benign
1	228414660	G	A	G228414660A	TRIM17	NM_016102.4(TRIM17):c.413C>T:p.Ala138Val	coding	Benign
1	228414810	T	C	T228414810C	TRIM17	NM_016102.4(TRIM17):c.263A>G:p.Gln88Arg	coding	Benign
1	228414985	T	C	T228414985C	TRIM17	NM_016102.4(TRIM17):c.88A>G:p.Thr30Ala	coding	Benign
1	228415046	T	C	T228415046C	TRIM17	NM_016102.4(TRIM17):c.27A>G:p.Lys9=	coding	Benign
1	229431501	A	G	A229431501G	ACTA1	NM_001100.3(ACTA1):c.1132T>C:p.Ter378Gln	coding	Pathogenic
1	229431558	T	G	T229431558G	ACTA1	NM_001100.3(ACTA1):c.1075A>C:p.Ile359Leu	coding	Pathogenic
1	229431626	T	G	T229431626G	ACTA1	NM_001100.3(ACTA1):c.1007A>C:p.Glu336Ala	coding	Pathogenic
1	229431633	G	A	G229431633A	ACTA1	NM_001100.3(ACTA1):c.1000C>T:p.Pro334Ser	coding	Pathogenic
1	229431637	G	T	G229431637T	ACTA1	NM_001100.3(ACTA1):c.996C>A:p.Ile332=	coding	Benign/Likely_benign
1	229431727	C	G	C229431727G	ACTA1	NM_001100.3(ACTA1):c.984G>C:p.Lys328Asn	coding	Pathogenic
1	229431830	T	A	T229431830A	ACTA1	NM_001100.3(ACTA1):c.881A>T:p.Asp294Val	coding	Pathogenic
1	229431843	C	G	C229431843G	ACTA1	NM_001100.3(ACTA1):c.868G>C:p.Asp290His	coding	Pathogenic
1	229431890	G	A	G229431890A	ACTA1	NM_001100.3(ACTA1):c.821C>T:p.Ala274Val	coding	Pathogenic
1	229431890	G	T	G229431890T	ACTA1	NM_001100.3(ACTA1):c.821C>A:p.Ala274Glu	coding	Pathogenic
1	229431902	C	T	C229431902T	ACTA1	NM_001100.3(ACTA1):c.809G>A:p.Gly270Asp	coding	Pathogenic/Likely_pathogenic
1	229431904	T	A	T229431904A	ACTA1	NM_001100.3(ACTA1):c.809-2A>T	noncoding	Pathogenic
1	229431916	C	G	C229431916G	ACTA1	NM_001100.4(ACTA1):c.809-14G>C	noncoding	Benign
1	229431994	C	A	C229431994A	ACTA1	NM_001100.3(ACTA1):c.808G>T:p.Gly270Cys	coding	Pathogenic
1	229431994	C	G	C229431994G	ACTA1	NM_001100.4(ACTA1):c.808G>C:p.Gly270Arg	coding	Pathogenic
1	229431999	A	G	A229431999G	ACTA1	NM_001100.3(ACTA1):c.803T>C:p.Phe268Ser	coding	Pathogenic
1	229432020	T	A	T229432020A	ACTA1	NM_001100.3(ACTA1):c.782A>T:p.Glu261Val	coding	Pathogenic
1	229432029	C	T	C229432029T	ACTA1	NM_001100.4(ACTA1):c.773G>A:p.Arg258His	coding	Pathogenic
1	229432035	C	T	C229432035T	ACTA1	NM_001100.4(ACTA1):c.767G>A:p.Arg256His	coding	Pathogenic
1	229432063	C	T	C229432063T	ACTA1	NM_001100.4(ACTA1):c.739G>A:p.Gly247Arg	coding	Pathogenic
1	229432064	G	T	G229432064T	ACTA1	NM_001100.4(ACTA1):c.738C>A:p.Asp246Glu	coding	Pathogenic
1	229432075	C	T	C229432075T	ACTA1	NM_001100.3(ACTA1):c.727G>A:p.Glu243Lys	coding	Pathogenic
1	229432120	C	A	C229432120A	ACTA1	NM_001100.4(ACTA1):c.682G>T:p.Glu228Ter	coding	Pathogenic
1	229432134	A	G	A229432134G	ACTA1	NM_001100.3(ACTA1):c.668T>C:p.Leu223Pro	coding	Pathogenic
1	229432142	G	T	G229432142T	ACTA1	NM_001100.3(ACTA1):c.660C>A:p.Tyr220Ter	coding	Pathogenic
1	229432181	C	G	C229432181G	ACTA1	NM_001100.3(ACTA1):c.621G>C:p.Glu207Asp	coding	Pathogenic
1	229432185	G	A	G229432185A	ACTA1	NM_001100.3(ACTA1):c.617C>T:p.Ala206Val	coding	Pathogenic
1	229432190	G	A	G229432190A	ACTA1	NM_001100.3(ACTA1):c.617-5C>T	noncoding	Benign/Likely_benign
1	229432269	C	T	C229432269T	ACTA1	NM_001100.3(ACTA1):c.616+1G>A	noncoding	Pathogenic
1	229432270	C	T	C229432270T	ACTA1	NM_001100.3(ACTA1):c.616G>A:p.Ala206Thr	coding	Pathogenic/Likely_pathogenic
1	229432295	C	A	C229432295A	ACTA1	NM_001100.3(ACTA1):c.591G>T:p.Glu197Asp	coding	Pathogenic
1	229432329	T	C	T229432329C	ACTA1	NM_001100.3(ACTA1):c.557A>G:p.Asp186Gly	coding	Pathogenic
1	229432333	G	A	G229432333A	ACTA1	NM_001100.3(ACTA1):c.553C>T:p.Arg185Cys	coding	Pathogenic
1	229432333	G	T	G229432333T	ACTA1	NM_001100.3(ACTA1):c.553C>A:p.Arg185Ser	coding	Pathogenic
1	229432337	C	T	C229432337T	ACTA1	NM_001100.3(ACTA1):c.549G>A:p.Ala183=	coding	Benign/Likely_benign
1	229432371	G	T	G229432371T	ACTA1	NM_001100.3(ACTA1):c.515C>A:p.Ala172Glu	coding	Pathogenic
1	229432393	C	A	C229432393A	ACTA1	NM_001100.3(ACTA1):c.493G>T:p.Val165Leu	coding	Pathogenic
1	229432393	C	G	C229432393G	ACTA1	NM_001100.3(ACTA1):c.493G>C:p.Val165Leu	coding	Pathogenic
1	229432393	C	T	C229432393T	ACTA1	NM_001100.3(ACTA1):c.493G>A:p.Val165Met	coding	Pathogenic
1	229432397	G	T	G229432397T	ACTA1	NM_001100.4(ACTA1):c.489C>A:p.His163Gln	coding	Pathogenic
1	229432484	T	G	T229432484G	ACTA1	NM_001100.3(ACTA1):c.455-53A>C	noncoding	Benign
1	229432557	G	T	G229432557T	ACTA1	NM_001100.3(ACTA1):c.453C>A:p.Thr151=	coding	Benign/Likely_benign
1	229432561	G	C	G229432561C	ACTA1	NM_001100.3(ACTA1):c.449C>G:p.Thr150Ser	coding	Pathogenic
1	229432568	C	G	C229432568G	ACTA1	NM_001100.3(ACTA1):c.442G>C:p.Gly148Arg	coding	Pathogenic
1	229432575	G	T	G229432575T	ACTA1	NM_001100.3(ACTA1):c.435C>A:p.Tyr145Ter	coding	Pathogenic
1	229432580	G	A	G229432580A	ACTA1	NM_001100.3(ACTA1):c.430C>T:p.Leu144Phe	coding	Pathogenic/Likely_pathogenic
1	229432591	G	C	G229432591C	ACTA1	NM_001100.3(ACTA1):c.419C>G:p.Ala140Gly	coding	Pathogenic
1	229432596	G	C	G229432596C	ACTA1	NM_001100.3(ACTA1):c.414C>G:p.Ile138Met	coding	Pathogenic
1	229432608	C	A	C229432608A	ACTA1	NM_001100.4(ACTA1):c.402G>T:p.Met134Ile	coding	Pathogenic
1	229432660	T	C	T229432660C	ACTA1	NM_001100.3(ACTA1):c.350A>G:p.Asn117Ser	coding	Pathogenic
1	229432723	A	G	A229432723G	ACTA1	NM_001100.3(ACTA1):c.287T>C:p.Leu96Pro	coding	Pathogenic
1	229432728	G	T	G229432728T	ACTA1	NM_001100.4(ACTA1):c.282C>A:p.Asn94Lys	coding	Pathogenic
1	229432774	G	A	G229432774A	ACTA1	NM_001100.4(ACTA1):c.236C>T:p.Thr79Ile	coding	Pathogenic
1	229432793	T	C	T229432793C	ACTA1	NM_001100.3(ACTA1):c.217A>G:p.Ile73Val	coding	Pathogenic
1	229432801	T	C	T229432801C	ACTA1	NM_001100.4(ACTA1):c.209A>G:p.Lys70Arg	coding	Pathogenic
1	229432864	A	C	A229432864C	ACTA1	NM_001100.3(ACTA1):c.146T>G:p.Met49Arg	coding	Pathogenic
1	229432867	C	A	C229432867A	ACTA1	NM_001100.4(ACTA1):c.143G>T:p.Gly48Val	coding	Pathogenic
1	229432867	C	T	C229432867T	ACTA1	NM_001100.3(ACTA1):c.143G>A:p.Gly48Asp	coding	Pathogenic
1	229432868	C	T	C229432868T	ACTA1	NM_001100.3(ACTA1):c.142G>A:p.Gly48Ser	coding	Pathogenic/Likely_pathogenic
1	229432877	C	A	C229432877A	ACTA1	NM_001100.3(ACTA1):c.133G>T:p.Val45Phe	coding	Pathogenic/Likely_pathogenic
1	229432885	A	G	A229432885G	ACTA1	NM_001100.4(ACTA1):c.130-5T>C	noncoding	Benign
1	229432890	C	G	C229432890G	ACTA1	NM_001100.4(ACTA1):c.130-10G>C	noncoding	Benign
1	229432956	G	T	G229432956T	ACTA1	NM_001100.3(ACTA1):c.129+31C>A	noncoding	Benign/Likely_benign
1	229432971	G	A	G229432971A	ACTA1	NM_001100.3(ACTA1):c.129+16C>T	noncoding	Benign
1	229432988	T	C	T229432988C	ACTA1	NM_001100.4(ACTA1):c.128A>G:p.Gln43Arg	coding	Pathogenic
1	229433007	C	A	C229433007A	ACTA1	NM_001100.3(ACTA1):c.109G>T:p.Val37Leu	coding	Pathogenic
1	229433007	C	G	C229433007G	ACTA1	NM_001100.3(ACTA1):c.109G>C:p.Val37Leu	coding	Pathogenic
1	229433067	C	G	C229433067G	ACTA1	NM_001100.3(ACTA1):c.49G>C:p.Gly17Arg	coding	Pathogenic
1	229433067	C	T	C229433067T	ACTA1	NM_001100.4(ACTA1):c.49G>A:p.Gly17Ser	coding	Pathogenic
1	229433080	G	T	G229433080T	ACTA1	NM_001100.3(ACTA1):c.36C>A:p.Cys12Ter	coding	Pathogenic
1	229433100	C	T	C229433100T	ACTA1	NM_001100.3(ACTA1):c.16G>A:p.Glu6Lys	coding	Pathogenic/Likely_pathogenic
1	229433109	C	A	C229433109A	ACTA1	NM_001100.3(ACTA1):c.7G>T:p.Asp3Tyr	coding	Pathogenic
1	229434056	A	G	A229434056G	ACTA1	NM_001100.3(ACTA1):c.-65T>C	noncoding	Benign
1	229434057	G	A	G229434057A	ACTA1	NM_001100.3(ACTA1):c.-66C>T	noncoding	Benign
1	229442051	A	T	A229442051T	NUP133	NM_018230.3(NUP133):c.3335-11T>A	noncoding	Pathogenic
1	229531637	G	T	G229531637T	ABCB10	NM_012089.3(ABCB10):c.1434C>A:p.Asn478Lys	coding	Benign
1	229549415	C	T	C229549415T	ABCB10	NM_012089.3(ABCB10):c.537G>A:p.Thr179=	coding	Benign
1	229610200	T	C	T229610200C	TAF5L	NM_014409.3(TAF5L):c.153A>G:p.Glu51=	coding	Benign
1	229637152	A	C	A229637152C	URB2	NM_014777.4(URB2):c.2539A>C:p.Met847Leu	coding	Benign
1	229637589	C	T	C229637589T	URB2	NM_014777.4(URB2):c.2976C>T:p.Pro992=	coding	Benign
1	229637945	G	A	G229637945A	URB2	NM_014777.4(URB2):c.3332G>A:p.Arg1111His	coding	Benign
1	229651283	G	A	G229651283A	URB2	NM_014777.4(URB2):c.4198G>A:p.Val1400Met	coding	Benign
1	230203227	T	C	T230203227C	GALNT2	NM_004481.5(GALNT2):c.311T>C:p.Phe104Ser	coding	Pathogenic
1	230236371	G	A	G230236371A	GALNT2	NM_004481.5(GALNT2):c.492G>A:p.Pro164=	coding	Benign
1	230236716	C	T	C230236716T	GALNT2	NM_004481.5(GALNT2):c.598C>T:p.Arg200Ter	coding	Pathogenic
1	230243327	G	C	G230243327C	GALNT2	NM_004481.5(GALNT2):c.629G>C:p.Arg210Pro	coding	Pathogenic
1	230249231	C	T	C230249231T	GALNT2	NM_004481.5(GALNT2):c.865C>T:p.Gln289Ter	coding	Pathogenic
1	230255210	C	T	C230255210T	GALNT2	NM_004481.5(GALNT2):c.1010-8C>T	noncoding	Benign
1	230255285	C	T	C230255285T	GALNT2	NM_004481.5(GALNT2):c.1077C>T:p.His359=	coding	Benign
1	230255312	G	A	G230255312A	GALNT2	NM_004481.5(GALNT2):c.1104G>A:p.Thr368=	coding	Benign
1	230323434	C	T	C230323434T	PGBD5	NM_001258311.2(PGBD5):c.1566G>A:p.Pro522=	coding	Benign
1	230337208	C	T	C230337208T	PGBD5	NM_001258311.2(PGBD5):c.975G>A:p.Val325=	coding	Benign
1	230357055	C	T	C230357055T	PGBD5	NM_001258311.2(PGBD5):c.598G>A:p.Ala200Thr	coding	Benign
1	230357189	C	T	C230357189T	PGBD5	NM_001258311.2(PGBD5):c.464G>A:p.Ser155Asn	coding	Benign
1	230659574	C	T	C230659574T	COG2	NM_007357.3(COG2):c.183C>T:p.Val61=	coding	Benign
1	230660787	T	G	T230660787G	COG2	NM_007357.3(COG2):c.264T>G:p.Leu88=	coding	Benign
1	230668757	C	T	C230668757T	COG2	NM_007357.3(COG2):c.567C>T:p.Gly189=	coding	Benign
1	230669469	G	A	G230669469A	COG2	NM_007357.3(COG2):c.708G>A:p.Thr236=	coding	Benign
1	230675010	T	A	T230675010A	COG2	NM_007357.3(COG2):c.912T>A:p.Asn304Lys	coding	Benign
1	230675112	T	C	T230675112C	COG2	NM_007357.3(COG2):c.1014T>C:p.Asp338=	coding	Benign
1	230685095	G	A	G230685095A	COG2	NM_007357.3(COG2):c.1239G>A:p.Pro413=	coding	Benign
1	230688533	G	A	G230688533A	COG2	NM_007357.3(COG2):c.1765G>A:p.Val589Ile	coding	Benign
1	230690119	T	G	T230690119G	COG2	NM_007357.3(COG2):c.1900T>G:p.Trp634Gly	coding	Pathogenic
1	230691486	C	T	C230691486T	COG2	NM_007357.3(COG2):c.2037C>T:p.Val679=	coding	Benign
1	230693342	C	T	C230693342T	COG2	NM_007357.3(COG2):c.2166C>T:p.Leu722=	coding	Benign
1	230702512	G	A	G230702512A	AGT	NM_000029.3(AGT):c.*629C>T	noncoding	Benign
1	230702585	G	T	G230702585T	AGT	NM_000029.4(AGT):c.*556C>A	noncoding	Benign
1	230702983	G	C	G230702983C	AGT	NM_000029.4(AGT):c.*158C>G	noncoding	Benign
1	230704350	T	C	T230704350C	AGT	NM_000029.4(AGT):c.1125-13A>G	noncoding	Benign
1	230705933	C	T	C230705933T	AGT	NM_000029.4(AGT):c.1124G>A:p.Arg375Gln	coding	Pathogenic
1	230705941	T	C	T230705941C	AGT	NM_000029.4(AGT):c.1116A>G:p.Leu372=	coding	Benign
1	230705970	G	A	G230705970A	AGT	NM_000029.4(AGT):c.1087C>T:p.Gln363Ter	coding	Pathogenic
1	230706034	G	A	G230706034A	AGT	NM_000029.4(AGT):c.1023C>T:p.Cys341=	coding	Benign
1	230706145	G	A	G230706145A	AGT	NM_000029.4(AGT):c.912C>T:p.Asn304=	coding	Benign/Likely_benign
1	230709994	C	A	C230709994A	AGT	NM_000029.4(AGT):c.856+1G>T	noncoding	Pathogenic
1	230710048	A	G	A230710048G	AGT	NM_000029.4(AGT):c.803T>C:p.Met268Thr	coding	Benign
1	230710231	G	A	G230710231A	AGT	NM_000029.4(AGT):c.620C>T:p.Thr207Met	coding	Benign
1	230710247	G	A	G230710247A	AGT	NM_000029.4(AGT):c.604C>T:p.Gln202Ter	coding	Pathogenic
1	230710284	G	A	G230710284A	AGT	NM_000029.4(AGT):c.567C>T:p.Gly189=	coding	Benign
1	230710441	G	A	G230710441A	AGT	NM_000029.4(AGT):c.410C>T:p.Thr137Met	coding	Benign/Likely_benign
1	230710559	C	T	C230710559T	AGT	NM_000029.4(AGT):c.292G>A:p.Glu98Lys	coding	Benign
1	230714126	C	T	C230714126T	AGT	NM_000029.3(AGT):c.-44G>A	noncoding	Benign
1	230714337	C	T	C230714337T	AGT	NM_000029.3(AGT):c.-255G>A	noncoding	Benign
1	230979199	T	C	T230979199C	ARV1	NM_022786.3(ARV1):c.94T>C:p.Tyr32His	coding	Benign/Likely_benign
1	230988440	G	A	G230988440A	ARV1	NM_022786.3(ARV1):c.294+1G>A	coding	Pathogenic
1	230990117	G	A	G230990117A	ARV1	NM_022786.3(ARV1):c.302G>A:p.Gly101Glu	coding	Benign
1	230995839	C	T	C230995839T	ARV1	NM_022786.3(ARV1):c.528C>T:p.Phe176=	coding	Benign
1	230995876	G	A	G230995876A	ARV1	NM_022786.3(ARV1):c.565G>A:p.Gly189Arg	coding	Pathogenic/Likely_pathogenic
1	231241234	G	A	G231241234A	GNPAT	NM_014236.4(GNPAT):c.-145G>A	noncoding	Benign
1	231241295	C	T	C231241295T	GNPAT	NM_014236.4(GNPAT):c.-84C>T	noncoding	Benign/Likely_benign
1	231241335	C	T	C231241335T	GNPAT	NM_014236.4(GNPAT):c.-44C>T	noncoding	Benign
1	231241404	C	T	C231241404T	GNPAT	NM_014236.4(GNPAT):c.26C>T:p.Ser9Phe	coding	Benign
1	231260888	T	C	T231260888C	GNPAT	NM_014236.4(GNPAT):c.438+205T>C	noncoding	Benign
1	231262809	A	G	A231262809G	GNPAT	NM_014236.4(GNPAT):c.525A>G:p.Leu175=	coding	Benign
1	231265355	C	T	C231265355T	GNPAT	NM_014236.4(GNPAT):c.631C>T:p.Arg211Cys	coding	Pathogenic
1	231265356	G	A	G231265356A	GNPAT	NM_014236.4(GNPAT):c.632G>A:p.Arg211His	coding	Pathogenic
1	231266156	G	A	G231266156A	GNPAT	NM_014236.4(GNPAT):c.915G>A:p.Glu305=	coding	Benign
1	231267519	T	C	T231267519C	GNPAT	NM_014236.4(GNPAT):c.1056-161T>C	noncoding	Benign
1	231270549	T	C	T231270549C	GNPAT	NM_014236.4(GNPAT):c.1280-209T>C	noncoding	Benign
1	231270755	T	G	T231270755G	GNPAT	NM_014236.4(GNPAT):c.1280-3T>G	noncoding	Pathogenic
1	231270786	G	A	G231270786A	GNPAT	NM_014236.4(GNPAT):c.1308G>A:p.Pro436=	coding	Benign/Likely_benign
1	231270855	C	T	C231270855T	GNPAT	NM_014236.4(GNPAT):c.1377C>T:p.Ser459=	coding	Benign
1	231270957	C	T	C231270957T	GNPAT	NM_014236.4(GNPAT):c.1479C>T:p.Ser493=	coding	Benign
1	231270961	G	A	G231270961A	GNPAT	NM_014236.4(GNPAT):c.1483G>A:p.Val495Ile	coding	Benign/Likely_benign
1	231271215	C	T	C231271215T	GNPAT	NM_014236.4(GNPAT):c.1522+215C>T	noncoding	Benign
1	231272345	A	G	A231272345G	GNPAT	NM_014236.4(GNPAT):c.1556A>G:p.Asp519Gly	coding	Benign
1	231274369	T	C	T231274369C	GNPAT	NM_014236.4(GNPAT):c.1743+307T>C	noncoding	Benign
1	231275503	G	A	G231275503A	GNPAT	NM_014236.4(GNPAT):c.1937+5G>A	noncoding	Pathogenic
1	231277560	T	C	T231277560C	GNPAT	NM_014236.4(GNPAT):c.*18T>C	noncoding	Benign
1	231335731	G	C	G231335731C	EXOC8	NM_175876.5(EXOC8):c.2015C>G:p.Ala672Gly	coding	Benign
1	231336773	C	T	C231336773T	EXOC8	NM_175876.5(EXOC8):c.973G>A:p.Val325Ile	coding	Benign
1	231337089	A	C	A231337089C	EXOC8	NM_175876.5(EXOC8):c.657T>G:p.Pro219=	coding	Benign
1	231337170	G	A	G231337170A	EXOC8	NM_175876.5(EXOC8):c.576C>T:p.Tyr192=	coding	Benign
1	231337365	C	G	C231337365G	EXOC8	NM_175876.5(EXOC8):c.381G>C:p.Ala127=	coding	Benign
1	231347825	A	G	A231347825G	SPRTN	NM_032018.7(SPRTN):c.350A>G:p.Tyr117Cys	coding	Pathogenic
1	231351387	G	A	G231351387A	SPRTN	NM_032018.7(SPRTN):c.534G>A:p.Pro178=	coding	Benign
1	231352795	G	A	G231352795A	SPRTN	NM_032018.7(SPRTN):c.904G>A:p.Val302Met	coding	Benign
1	231353206	A	T	A231353206T	SPRTN	NM_032018.7(SPRTN):c.1315A>T:p.Thr439Ser	coding	Benign
1	231363813	C	T	C231363813T	EGLN1	NM_022051.2(EGLN1):c.*2598G>A	noncoding	Benign
1	231364176	G	C	G231364176C	EGLN1	NM_022051.2(EGLN1):c.*2235C>G	noncoding	Benign
1	231364315	A	G	A231364315G	EGLN1	NM_022051.2(EGLN1):c.*2096T>C	noncoding	Benign
1	231364350	G	C	G231364350C	EGLN1	NM_022051.2(EGLN1):c.*2061C>G	noncoding	Benign
1	231364492	A	G	A231364492G	EGLN1	NM_022051.2(EGLN1):c.*1919T>C	noncoding	Benign
1	231364531	T	A	T231364531A	EGLN1	NM_022051.2(EGLN1):c.*1880A>T	noncoding	Benign
1	231365123	G	A	G231365123A	EGLN1	NM_022051.2(EGLN1):c.*1288C>T	noncoding	Benign
1	231365212	T	C	T231365212C	EGLN1	NM_022051.2(EGLN1):c.*1199A>G	noncoding	Benign
1	231365422	A	G	A231365422G	EGLN1	NM_022051.2(EGLN1):c.*989T>C	noncoding	Benign
1	231365789	T	C	T231365789C	EGLN1	NM_022051.2(EGLN1):c.*622A>G	noncoding	Benign
1	231365836	T	A	T231365836A	EGLN1	NM_022051.3(EGLN1):c.*575A>T	noncoding	Benign
1	231365959	T	C	T231365959C	EGLN1	NM_022051.2(EGLN1):c.*452A>G	noncoding	Benign
1	231366420	G	A	G231366420A	EGLN1	NM_022051.2(EGLN1):c.1272C>T:p.Asp424=	coding	Benign
1	231366433	G	A	G231366433A	EGLN1	NM_022051.2(EGLN1):c.1259C>T:p.Ser420Leu	coding	Benign
1	231367562	C	T	C231367562T	EGLN1	NM_022051.2(EGLN1):c.1216+7G>A	noncoding	Benign
1	231370589	T	C	T231370589C	EGLN1	NM_022051.2(EGLN1):c.1121A>G:p.His374Arg	coding	Pathogenic
1	231370597	G	A	G231370597A	EGLN1	NM_022051.2(EGLN1):c.1113C>T:p.Arg371=	coding	Benign
1	231370598	C	T	C231370598T	EGLN1	NM_022051.2(EGLN1):c.1112G>A:p.Arg371His	coding	Pathogenic
1	231373973	T	C	T231373973C	EGLN1	NM_022051.2(EGLN1):c.1011+7A>G	noncoding	Benign
1	231374041	G	C	G231374041C	EGLN1	NM_022051.2(EGLN1):c.950C>G:p.Pro317Arg	coding	Pathogenic
1	231421046	G	A	G231421046A	EGLN1	NM_022051.2(EGLN1):c.843C>T:p.Arg281=	coding	Benign
1	231421057	C	T	C231421057T	EGLN1	NM_022051.2(EGLN1):c.832G>A:p.Asp278Asn	coding	Benign
1	231421412	C	T	C231421412T	EGLN1	NM_022051.2(EGLN1):c.477G>A:p.Lys159=	coding	Benign
1	231421418	C	G	C231421418G	EGLN1	NM_022051.2(EGLN1):c.471G>C:p.Gln157His	coding	Benign
1	231421428	G	T	G231421428T	EGLN1	NM_022051.2(EGLN1):c.461C>A:p.Ser154Ter	coding	Pathogenic
1	231421509	C	G	C231421509G	EGLN1	NM_022051.2(EGLN1):c.380G>C:p.Cys127Ser	coding	Benign
1	231421535	G	A	G231421535A	EGLN1	NM_022051.2(EGLN1):c.354C>T:p.Ala118=	coding	Benign
1	231421769	G	A	G231421769A	EGLN1	NM_022051.2(EGLN1):c.120C>T:p.Phe40=	coding	Benign
1	231421877	G	C	G231421877C	EGLN1	NM_022051.2(EGLN1):c.12C>G:p.Asp4Glu	coding	Benign/Likely_benign
1	231422267	T	A	T231422267A	EGLN1	NM_022051.2(EGLN1):c.-379A>T	noncoding	Benign
1	231422267	T	G	T231422267G	EGLN1	NM_022051.3(EGLN1):c.-379A>C	noncoding	Benign
1	231422308	G	C	G231422308C	EGLN1	NM_022051.2(EGLN1):c.-420C>G	noncoding	Benign
1	231422419	T	C	T231422419C	EGLN1	NM_022051.2(EGLN1):c.-531A>G	noncoding	Benign
1	231422419	T	G	T231422419G	EGLN1	NC_000001.11:g.231422419T>G	noncoding	Benign
1	231422424	G	A	G231422424A	EGLN1	NM_022051.2(EGLN1):c.-536C>T	noncoding	Benign
1	231422432	G	A	G231422432A	EGLN1	NC_000001.11:g.231422432G>A	noncoding	Benign
1	231422507	G	C	G231422507C	EGLN1	NM_022051.2(EGLN1):c.-619C>G	noncoding	Benign
1	231422586	C	T	C231422586T	EGLN1	NM_022051.2(EGLN1):c.-698G>A	noncoding	Benign
1	231422674	C	T	C231422674T	EGLN1	NM_022051.2(EGLN1):c.-786G>A	noncoding	Benign
1	231423100	T	C	T231423100C	EGLN1	NM_022051.2(EGLN1):c.-1212A>G	noncoding	Benign
1	231423480	A	G	A231423480G	EGLN1	NM_022051.2(EGLN1):c.-1592T>C	noncoding	Benign
1	231423497	C	T	C231423497T	EGLN1	NM_022051.2(EGLN1):c.-1609G>A	noncoding	Benign
1	231423594	A	G	A231423594G	EGLN1	NM_022051.2(EGLN1):c.-1706T>C	noncoding	Benign
1	231424091	A	G	A231424091G	EGLN1	NM_022051.2(EGLN1):c.-2203T>C	noncoding	Benign
1	231424233	C	G	C231424233G	EGLN1	NC_000001.11:g.231424233C>G	noncoding	Benign
1	231424257	G	A	G231424257A	EGLN1	NM_022051.2(EGLN1):c.-2369C>T	noncoding	Benign
1	231424307	C	G	C231424307G	EGLN1	NM_022051.2(EGLN1):c.-2419G>C	noncoding	Benign
1	231424336	T	G	T231424336G	EGLN1	NM_022051.2(EGLN1):c.-2448A>C	noncoding	Benign
1	231424338	A	C	A231424338C	EGLN1	NC_000001.11:g.231424338A>C	noncoding	Benign
1	231424344	T	C	T231424344C	EGLN1	NM_022051.2(EGLN1):c.-2456A>G	noncoding	Benign
1	231424474	A	G	A231424474G	EGLN1	NM_022051.2(EGLN1):c.-2586T>C	noncoding	Benign
1	231424480	A	C	A231424480C	EGLN1	NM_022051.2(EGLN1):c.-2592T>G	noncoding	Benign
1	231424487	A	G	A231424487G	EGLN1	NM_022051.2(EGLN1):c.-2599T>C	noncoding	Benign
1	231424584	C	T	C231424584T	EGLN1	NC_000001.11:g.231424584C>T	noncoding	Benign
1	231424597	G	A	G231424597A	EGLN1	NC_000001.11:g.231424597G>A	noncoding	Benign
1	231424623	C	T	C231424623T	EGLN1	NM_022051.2(EGLN1):c.-2735G>A	noncoding	Benign
1	231424811	G	A	G231424811A	EGLN1	NM_022051.2(EGLN1):c.-2923C>T	noncoding	Benign
1	231529288	A	G	A231529288G	TSNAX	NM_005999.3(TSNAX):c.50A>G:p.Asn17Ser	coding	Benign
1	231529292	C	T	C231529292T	TSNAX	NM_005999.3(TSNAX):c.54C>T:p.Phe18=	coding	Benign
1	231561120	G	A	G231561120A	TSNAX	NM_005999.3(TSNAX):c.368-8G>A	noncoding	Benign
1	231561210	A	G	A231561210G	TSNAX	NM_005999.3(TSNAX):c.450A>G:p.Lys150=	coding	Benign
1	231693969	G	T	G231693969T	DISC1	NM_018662.3(DISC1):c.211G>T:p.Val71Leu	coding	Benign
1	231694266	C	T	C231694266T	DISC1	NM_018662.3(DISC1):c.508C>T:p.Arg170Cys	coding	Benign
1	231694313	C	T	C231694313T	DISC1	NM_018662.3(DISC1):c.555C>T:p.Asn185=	coding	Benign
1	231694746	C	T	C231694746T	DISC1	NM_018662.3(DISC1):c.988C>T:p.Leu330Phe	coding	Benign
1	231694792	G	A	G231694792A	DISC1	NM_018662.3(DISC1):c.1034G>A:p.Arg345Gln	coding	Benign
1	231767218	C	T	C231767218T	DISC1	NM_018662.3(DISC1):c.1347C>T:p.His449=	coding	Benign
1	231767227	C	T	C231767227T	DISC1	NM_018662.3(DISC1):c.1356C>T:p.Ile452=	coding	Benign
1	231771027	G	C	G231771027C	DISC1	NM_018662.3(DISC1):c.1591G>C:p.Gly531Arg	coding	Benign
1	232008993	G	C	G232008993C	DISC1	NM_018662.3(DISC1):c.2251G>C:p.Glu751Gln	coding	Benign
1	232415579	G	A	G232415579A	SIPA1L2	NM_020808.4(SIPA1L2):c.4677C>T:p.Cys1559=	coding	Benign
1	232425774	G	A	G232425774A	SIPA1L2	NM_020808.4(SIPA1L2):c.4445C>T:p.Ser1482Leu	coding	Benign
1	232432238	C	T	C232432238T	SIPA1L2	NM_020808.4(SIPA1L2):c.4256+9G>A	noncoding	Benign
1	232439305	G	A	G232439305A	SIPA1L2	NM_020808.4(SIPA1L2):c.3834C>T:p.Leu1278=	coding	Benign
1	232445630	G	A	G232445630A	SIPA1L2	NM_020808.4(SIPA1L2):c.3252C>T:p.Pro1084=	coding	Benign
1	232460928	C	T	C232460928T	SIPA1L2	NM_020808.4(SIPA1L2):c.3054G>A:p.Lys1018=	coding	Benign
1	232460970	G	A	G232460970A	SIPA1L2	NM_020808.4(SIPA1L2):c.3012C>T:p.His1004=	coding	Benign
1	232465248	C	T	C232465248T	SIPA1L2	NM_020808.4(SIPA1L2):c.2412G>A:p.Thr804=	coding	Benign
1	232490925	A	C	A232490925C	SIPA1L2	NM_020808.4(SIPA1L2):c.1755T>G:p.Ala585=	coding	Benign
1	232515136	G	A	G232515136A	SIPA1L2	NM_020808.4(SIPA1L2):c.204C>T:p.Thr68=	coding	Benign
1	232806530	G	A	G232806530A	MAP10	NM_019090.2(MAP10):c.1507G>A:p.Glu503Lys	coding	Benign
1	232806759	C	T	C232806759T	MAP10	NM_019090.2(MAP10):c.1736C>T:p.Ser579Phe	coding	Benign
1	232984475	G	A	G232984475A	PCNX2	NM_014801.4(PCNX2):c.6243C>T:p.His2081=	coding	Benign
1	232986152	T	A	T232986152A	PCNX2	NM_014801.4(PCNX2):c.6180A>T:p.Ser2060=	coding	Benign
1	233095873	A	G	A233095873G	PCNX2	NM_014801.4(PCNX2):c.3838-10T>C	noncoding	Benign
1	233227227	G	T	G233227227T	PCNX2	NM_014801.4(PCNX2):c.2503C>A:p.Arg835=	coding	Benign
1	233259205	G	C	G233259205C	PCNX2	NM_014801.4(PCNX2):c.657C>G:p.Ala219=	coding	Benign
1	233353961	G	T	G233353961T	MAP3K21	NM_032435.3(MAP3K21):c.1135+6G>T	noncoding	Benign
1	234316592	G	A	G234316592A	SLC35F3	NM_173508.4(SLC35F3):c.829-10G>A	noncoding	Benign
1	234323108	G	A	G234323108A	SLC35F3	NM_173508.4(SLC35F3):c.1338G>A:p.Glu446=	coding	Benign
1	234373513	G	C	G234373513C	COA6	NM_001206641.3(COA6):c.47G>C:p.Ser16Thr	coding	Benign
1	234373657	C	G	C234373657G	COA6	NM_001206641.3(COA6):c.191C>G:p.Ala64Gly	coding	Benign
1	234374226	A	G	A234374226G	COA6	NM_001206641.3(COA6):c.213-4A>G	coding	Benign
1	234374284	G	C	G234374284C	COA6	NM_001206641.3(COA6):c.267G>C:p.Trp89Cys	coding	Pathogenic
1	234374303	T	C	T234374303C	COA6	NM_001206641.3(COA6):c.286T>C:p.Trp96Arg	coding	Pathogenic
1	234374366	G	T	G234374366T	COA6	NM_001206641.3(COA6):c.349G>T:p.Glu117Ter	coding	Pathogenic
1	234383704	T	A	T234383704A	COA6	NM_001206641.3(COA6):c.373-19T>A	noncoding	Benign
1	234418183	G	A	G234418183A	TARBP1	NM_005646.4(TARBP1):c.3606C>T:p.Asn1202=	coding	Benign
1	234425752	T	C	T234425752C	TARBP1	NM_005646.4(TARBP1):c.3365A>G:p.Lys1122Arg	coding	Benign
1	234459324	T	C	T234459324C	TARBP1	NM_005646.4(TARBP1):c.1538A>G:p.Asp513Gly	coding	Benign
1	234607249	C	T	C234607249T	IRF2BP2	NM_182972.2(IRF2BP2):c.1652G>A:p.Ser551Asn	coding	Pathogenic
1	234607491	G	A	G234607491A	IRF2BP2	NM_182972.2(IRF2BP2):c.1410C>T:p.Gly470=	coding	Benign
1	234608504	G	A	G234608504A	IRF2BP2	NM_182972.2(IRF2BP2):c.991C>T:p.Leu331=	coding	Benign
1	234608667	C	A	C234608667A	IRF2BP2	NM_182972.2(IRF2BP2):c.828G>T:p.Ala276=	coding	Benign
1	234609143	G	A	G234609143A	IRF2BP2	NM_182972.2(IRF2BP2):c.352C>T:p.Pro118Ser	coding	Benign
1	234609263	A	G	A234609263G	IRF2BP2	NM_182972.2(IRF2BP2):c.232T>C:p.Ser78Pro	coding	Benign
1	234609420	G	A	G234609420A	IRF2BP2	NM_182972.2(IRF2BP2):c.75C>T:p.Pro25=	coding	Benign
1	235182498	G	A	G235182498A	ARID4B	NM_016374.6(ARID4B):c.2421C>T:p.Val807=	coding	Benign
1	235367487	T	C	T235367487C	TBCE	NM_003193.5(TBCE):c.-49T>C	noncoding	Benign
1	235380162	T	G	T235380162G	TBCE	NM_003193.5(TBCE):c.100+13T>G	noncoding	Benign
1	235401498	G	A	G235401498A	TBCE	NM_003193.5(TBCE):c.101-5G>A	noncoding	Benign/Likely_benign
1	235414461	C	T	C235414461T	TBCE	NM_003193.5(TBCE):c.214C>T:p.Pro72Ser	coding	Benign/Likely_benign
1	235427143	T	A	T235427143A	TBCE	NM_003193.5(TBCE):c.464T>A:p.Ile155Asn	coding	Pathogenic
1	235427244	G	A	G235427244A	TBCE	NM_003193.5(TBCE):c.560+5G>A	noncoding	Benign
1	235430758	T	C	T235430758C	TBCE	NM_003193.5(TBCE):c.614T>C:p.Val205Ala	coding	Benign
1	235437356	G	C	G235437356C	TBCE	NM_003193.5(TBCE):c.998G>C:p.Ser333Thr	coding	Benign/Likely_benign
1	235437408	A	G	A235437408G	TBCE	NM_003193.5(TBCE):c.1050A>G:p.Glu350=	coding	Benign
1	235437426	A	G	A235437426G	TBCE	NM_003193.5(TBCE):c.1068A>G:p.Leu356=	coding	Benign
1	235437471	T	A	T235437471A	TBCE	NM_003193.5(TBCE):c.1113T>A:p.Cys371Ter	coding	Pathogenic
1	235438878	A	G	A235438878G	TBCE	NM_003193.5(TBCE):c.1226A>G:p.Glu409Gly	coding	Benign
1	235448675	G	A	G235448675A	TBCE	NM_003193.5(TBCE):c.1497G>A:p.Pro499=	coding	Benign
1	235448904	T	A	T235448904A	TBCE	NM_003193.5(TBCE):c.*142T>A	noncoding	Benign
1	235450286	G	A	G235450286A	B3GALNT2	NM_152490.5(B3GALNT2):c.1423C>T:p.Gln475Ter	coding	Pathogenic
1	235458753	C	G	C235458753G	B3GALNT2	NM_152490.5(B3GALNT2):c.875G>C:p.Arg292Pro	coding	Pathogenic/Likely_pathogenic
1	235465715	C	T	C235465715T	B3GALNT2	NM_152490.5(B3GALNT2):c.763-1G>A	coding	Pathogenic
1	235470857	A	C	A235470857C	B3GALNT2	NM_152490.5(B3GALNT2):c.755T>G:p.Val252Gly	coding	Pathogenic/Likely_pathogenic
1	235484412	G	A	G235484412A	B3GALNT2	NM_152490.5(B3GALNT2):c.465C>T:p.Ile155=	coding	Benign/Likely_benign
1	235484429	G	A	G235484429A	B3GALNT2	NM_152490.5(B3GALNT2):c.448C>T:p.Arg150Ter	coding	Pathogenic
1	235484480	C	T	C235484480T	B3GALNT2	NM_152490.5(B3GALNT2):c.397G>A:p.Glu133Lys	coding	Benign/Likely_benign
1	235489149	A	G	A235489149G	B3GALNT2	NM_152490.5(B3GALNT2):c.361+19T>C	noncoding	Benign
1	235494742	G	A	G235494742A	B3GALNT2	NM_152490.5(B3GALNT2):c.199C>T:p.Arg67Ter	coding	Pathogenic
1	235494789	T	C	T235494789C	B3GALNT2	NM_152490.5(B3GALNT2):c.152A>G:p.Tyr51Cys	coding	Benign
1	235503830	G	A	G235503830A	B3GALNT2	NM_152490.5(B3GALNT2):c.112+311C>T	noncoding	Benign
1	235504442	G	T	G235504442T	B3GALNT2	NM_152490.5(B3GALNT2):c.-190C>A	noncoding	Benign
1	235661217	T	C	T235661217C	LYST	NM_000081.4(LYST):c.*1723A>G	noncoding	Benign
1	235661441	C	A	C235661441A	LYST	NM_000081.4(LYST):c.*1499G>T	noncoding	Benign
1	235661665	A	G	A235661665G	LYST	NM_001301365.1(LYST):c.*1275T>C	noncoding	Benign
1	235662215	C	T	C235662215T	LYST	NM_001301365.1(LYST):c.*725G>A	noncoding	Benign
1	235662255	C	A	C235662255A	LYST	NM_001301365.1(LYST):c.*685G>T	noncoding	Benign
1	235662494	A	G	A235662494G	LYST	NM_001301365.1(LYST):c.*446T>C	noncoding	Benign
1	235664341	C	T	C235664341T	LYST	NM_001301365.1(LYST):c.11195+124G>A	noncoding	Benign
1	235664487	C	T	C235664487T	LYST	NM_000081.4(LYST):c.11173G>A:p.Gly3725Arg	coding	Pathogenic
1	235664558	C	A	C235664558A	LYST	NM_001301365.1(LYST):c.11102G>T:p.Cys3701Phe	coding	Pathogenic
1	235664645	G	A	G235664645A	LYST	NM_001301365.1(LYST):c.11039-24C>T	noncoding	Benign
1	235697040	C	T	C235697040T	LYST	NM_001301365.1(LYST):c.10564+43G>A	noncoding	Benign
1	235702714	T	C	T235702714C	LYST	NM_001301365.1(LYST):c.10374+33A>G	noncoding	Benign
1	235702776	G	A	G235702776A	LYST	NM_001301365.1(LYST):c.10345C>T:p.Arg3449Ter	coding	Pathogenic
1	235709365	T	C	T235709365C	LYST	NM_001301365.1(LYST):c.9926-57A>G	noncoding	Benign
1	235712108	C	A	C235712108A	LYST	NM_000081.4(LYST):c.9874G>T:p.Glu3292Ter	coding	Pathogenic
1	235723976	G	T	G235723976T	LYST	NM_001301365.1(LYST):c.9315+52C>A	noncoding	Benign
1	235724145	G	A	G235724145A	LYST	NM_000081.4(LYST):c.9198C>T:p.Ser3066=	coding	Benign
1	235731081	A	G	A235731081G	LYST	NM_001301365.1(LYST):c.8898T>C:p.Tyr2966=	coding	Benign
1	235731179	T	C	T235731179C	LYST	NM_001301365.1(LYST):c.8802-2A>G	noncoding	Pathogenic
1	235733426	C	T	C235733426T	LYST	NM_001301365.1(LYST):c.8801+77G>A	noncoding	Benign
1	235733859	C	T	C235733859T	LYST	NM_001301365.1(LYST):c.8583G>A:p.Trp2861Ter	coding	Pathogenic
1	235734590	C	T	C235734590T	LYST	NM_001301365.1(LYST):c.8428G>A:p.Glu2810Lys	coding	Pathogenic
1	235734607	C	T	C235734607T	LYST	NM_001301365.1(LYST):c.8411G>A:p.Gly2804Asp	coding	Benign
1	235734650	T	G	T235734650G	LYST	NM_001301365.1(LYST):c.8368A>C:p.Lys2790Gln	coding	Benign/Likely_benign
1	235741499	T	A	T235741499A	LYST	NM_000081.4(LYST):c.8281A>T:p.Arg2761Ter	coding	Pathogenic
1	235743683	T	C	T235743683C	LYST	NM_001301365.1(LYST):c.8151+296A>G	noncoding	Benign
1	235744148	G	C	G235744148C	LYST	NM_000081.4(LYST):c.7982C>G:p.Ser2661Ter	coding	Pathogenic
1	235746451	A	G	A235746451G	LYST	NM_001301365.1(LYST):c.7857T>C:p.His2619=	coding	Benign
1	235746515	A	T	A235746515T	LYST	NM_001301365.1(LYST):c.7793T>A:p.Phe2598Tyr	coding	Benign
1	235755570	T	G	T235755570G	LYST	NM_000081.4(LYST):c.7137A>C:p.Leu2379=	coding	Benign/Likely_benign
1	235757274	C	T	C235757274T	LYST	NM_001301365.1(LYST):c.7059+7G>A	noncoding	Benign/Likely_benign
1	235757440	C	T	C235757440T	LYST	NM_001301365.1(LYST):c.6900G>A:p.Leu2300=	coding	Benign
1	235758928	T	C	T235758928C	LYST	NM_001301365.1(LYST):c.6881+44A>G	noncoding	Benign
1	235759041	T	C	T235759041C	LYST	NM_001301365.1(LYST):c.6812A>G:p.Asp2271Gly	coding	Benign/Likely_benign
1	235759071	C	T	C235759071T	LYST	NM_001301365.1(LYST):c.6782G>A:p.Arg2261His	coding	Benign
1	235759223	T	C	T235759223C	LYST	NM_001301365.1(LYST):c.6630A>G:p.Glu2210=	coding	Benign
1	235759265	T	C	T235759265C	LYST	NM_000081.4(LYST):c.6588A>G:p.Gly2196=	coding	Benign
1	235759561	C	T	C235759561T	LYST	NM_001301365.1(LYST):c.6292G>A:p.Ala2098Thr	coding	Benign/Likely_benign
1	235762757	T	C	T235762757C	LYST	NM_000081.4(LYST):c.6216A>G:p.Val2072=	coding	Benign
1	235766122	G	A	G235766122A	LYST	NM_000081.4(LYST):c.6078C>T:p.Tyr2026=	coding	Benign
1	235766122	G	T	G235766122T	LYST	NM_001301365.1(LYST):c.6078C>A:p.Tyr2026Ter	coding	Pathogenic
1	235766204	A	T	A235766204T	LYST	NM_001301365.1(LYST):c.5996T>A:p.Val1999Asp	coding	Pathogenic
1	235766244	G	A	G235766244A	LYST	NM_001301365.1(LYST):c.5956C>T:p.Arg1986Ter	coding	Pathogenic
1	235766255	G	A	G235766255A	LYST	NM_001301365.1(LYST):c.5945C>T:p.Thr1982Ile	coding	Benign/Likely_benign
1	235766296	C	A	C235766296A	LYST	NM_001301365.1(LYST):c.5923-19G>T	noncoding	Benign
1	235770235	C	G	C235770235G	LYST	NM_001301365.1(LYST):c.5847G>C:p.Gln1949His	coding	Benign
1	235770604	C	T	C235770604T	LYST	NM_001301365.1(LYST):c.5785-307G>A	noncoding	Benign
1	235775041	G	A	G235775041A	LYST	NM_000081.4(LYST):c.5506C>T:p.Arg1836Ter	coding	Pathogenic
1	235777150	C	T	C235777150T	LYST	NM_000081.4(LYST):c.5373G>A:p.Lys1791=	coding	Benign
1	235777232	C	G	C235777232G	LYST	NM_001301365.1(LYST):c.5291G>C:p.Gly1764Ala	coding	Benign
1	235777300	A	G	A235777300G	LYST	NM_001301365.1(LYST):c.5223T>C:p.Leu1741=	coding	Benign/Likely_benign
1	235781018	A	T	A235781018T	LYST	NM_001301365.1(LYST):c.5061T>A:p.Tyr1687Ter	coding	Pathogenic
1	235781886	G	A	G235781886A	LYST	NM_001301365.1(LYST):c.5023+41C>T	noncoding	Benign
1	235781994	T	C	T235781994C	LYST	NM_000081.4(LYST):c.4956A>G:p.Leu1652=	coding	Benign
1	235782091	C	T	C235782091T	LYST	NM_001301365.1(LYST):c.4863-4G>A	noncoding	Benign/Likely_benign
1	235782106	A	G	A235782106G	LYST	NM_001301365.1(LYST):c.4863-19T>C	noncoding	Benign
1	235788701	C	T	C235788701T	LYST	NM_001301365.1(LYST):c.4688G>A:p.Arg1563His	coding	Pathogenic
1	235791850	G	A	G235791850A	LYST	NM_001301365.1(LYST):c.4392C>T:p.Asn1464=	coding	Benign/Likely_benign
1	235791881	G	T	G235791881T	LYST	NM_001301365.1(LYST):c.4361C>A:p.Ala1454Asp	coding	Pathogenic
1	235793567	G	C	G235793567C	LYST	NM_001301365.1(LYST):c.4052C>G:p.Ser1351Ter	coding	Pathogenic
1	235800337	T	G	T235800337G	LYST	NM_001301365.1(LYST):c.3989A>C:p.Asp1330Ala	coding	Benign/Likely_benign
1	235802998	G	A	G235802998A	LYST	NM_000081.4(LYST):c.3622C>T:p.Gln1208Ter	coding	Pathogenic
1	235805777	C	A	C235805777A	LYST	NM_001301365.1(LYST):c.3359G>T:p.Ser1120Ile	coding	Benign
1	235805826	G	A	G235805826A	LYST	NM_001301365.1(LYST):c.3310C>T:p.Arg1104Ter	coding	Pathogenic/Likely_pathogenic
1	235806051	G	A	G235806051A	LYST	NM_001301365.1(LYST):c.3085C>T:p.Gln1029Ter	coding	Pathogenic
1	235806086	C	T	C235806086T	LYST	NM_001301365.1(LYST):c.3050G>A:p.Ser1017Asn	coding	Benign
1	235806228	T	G	T235806228G	LYST	NM_001301365.1(LYST):c.2908A>C:p.Ile970Leu	coding	Benign
1	235806723	C	A	C235806723A	LYST	NM_001301365.1(LYST):c.2413G>T:p.Glu805Ter	coding	Pathogenic
1	235808463	A	G	A235808463G	LYST	NM_001301365.1(LYST):c.2355T>C:p.Leu785=	coding	Benign/Likely_benign
1	235808502	G	A	G235808502A	LYST	NM_001301365.1(LYST):c.2316C>T:p.Asp772=	coding	Benign
1	235809135	T	C	T235809135C	LYST	NM_000081.4(LYST):c.1683A>G:p.Leu561=	coding	Benign
1	235809278	G	A	G235809278A	LYST	NM_001301365.1(LYST):c.1540C>T:p.Arg514Ter	coding	Pathogenic
1	235809324	T	C	T235809324C	LYST	NM_001301365.1(LYST):c.1494A>G:p.Arg498=	coding	Benign/Likely_benign
1	235809567	T	C	T235809567C	LYST	NM_000081.4(LYST):c.1251A>G:p.Gln417=	coding	Benign
1	235809893	G	A	G235809893A	LYST	NM_001301365.1(LYST):c.925C>T:p.Arg309Ter	coding	Pathogenic
1	235810046	A	G	A235810046G	LYST	NM_000081.4(LYST):c.772T>C:p.Cys258Arg	coding	Pathogenic
1	235810244	A	C	A235810244C	LYST	NM_001301365.1(LYST):c.574T>G:p.Leu192Val	coding	Benign
1	235810450	T	C	T235810450C	LYST	NM_001301365.1(LYST):c.368A>G:p.His123Arg	coding	Benign/Likely_benign
1	235813294	C	T	C235813294T	LYST	NM_001301365.1(LYST):c.193-233G>A	noncoding	Benign
1	235813351	T	C	T235813351C	LYST	NM_001301365.1(LYST):c.193-290A>G	noncoding	Benign
1	235830265	T	G	T235830265G	LYST	NM_001301365.1(LYST):c.153A>C:p.Gly51=	coding	Benign
1	235830270	G	A	G235830270A	LYST	NM_001301365.1(LYST):c.148C>T:p.Arg50Ter	coding	Pathogenic
1	235866879	C	G	C235866879G	LYST	NM_001301365.1(LYST):c.-98+16308G>C	noncoding	Benign
1	235977934	G	A	G235977934A	NID1	NM_002508.3(NID1):c.3677C>T:p.Thr1226Ile	coding	Benign
1	235979111	C	T	C235979111T	NID1	NM_002508.3(NID1):c.3510-4G>A	noncoding	Benign
1	235979844	G	C	G235979844C	NID1	NM_002508.3(NID1):c.3487C>G:p.Leu1163Val	coding	Benign
1	235981619	G	T	G235981619T	NID1	NM_002508.3(NID1):c.3219C>A:p.Ser1073=	coding	Benign
1	235990906	T	C	T235990906C	NID1	NM_002508.3(NID1):c.2908A>G:p.Lys970Glu	coding	Benign
1	235993733	G	A	G235993733A	NID1	NM_002508.3(NID1):c.2667C>T:p.Cys889=	coding	Benign
1	235993823	T	C	T235993823C	NID1	NM_002508.3(NID1):c.2577A>G:p.Ala859=	coding	Benign
1	236012051	A	G	A236012051G	NID1	NM_002508.3(NID1):c.2405-8T>C	noncoding	Benign
1	236017198	C	T	C236017198T	NID1	NM_002508.3(NID1):c.2204G>A:p.Arg735His	coding	Benign
1	236024113	G	A	G236024113A	NID1	NM_002508.3(NID1):c.2085C>T:p.Cys695=	coding	Benign
1	236024192	T	C	T236024192C	NID1	NM_002508.3(NID1):c.2006A>G:p.Gln669Arg	coding	Benign
1	236025969	G	A	G236025969A	NID1	NM_002508.3(NID1):c.1911C>T:p.Ser637=	coding	Benign
1	236038229	C	T	C236038229T	NID1	NM_002508.3(NID1):c.1160G>A:p.Arg387His	coding	Benign
1	236042041	C	T	C236042041T	NID1	NM_002508.3(NID1):c.1004G>A:p.Arg335His	coding	Benign
1	236042112	C	T	C236042112T	NID1	NM_002508.3(NID1):c.933G>A:p.Thr311=	coding	Benign
1	236042140	C	T	C236042140T	NID1	NM_002508.3(NID1):c.905G>A:p.Arg302His	coding	Benign
1	236042202	G	A	G236042202A	NID1	NM_002508.3(NID1):c.843C>T:p.Leu281=	coding	Benign
1	236048737	C	T	C236048737T	NID1	NM_002508.3(NID1):c.478G>A:p.Val160Met	coding	Benign
1	236048738	G	A	G236048738A	NID1	NM_002508.3(NID1):c.477C>T:p.Ser159=	coding	Benign
1	236064988	C	A	C236064988A	NID1	NM_002508.3(NID1):c.92G>T:p.Arg31Leu	coding	Benign
1	236218524	T	C	T236218524C	ERO1B	NM_019891.4(ERO1B):c.1396A>G:p.Ser466Gly	coding	Benign
1	236394442	G	A	G236394442A	EDARADD	NM_145861.3(EDARADD):c.-3G>A	noncoding	Benign/Likely_benign
1	236394471	G	A	G236394471A	EDARADD	NM_145861.3(EDARADD):c.27G>A:p.Met9Ile	coding	Benign
1	236394504	G	A	G236394504A	EDARADD	NM_145861.3(EDARADD):c.60G>A:p.Glu20=	coding	Benign/Likely_benign
1	236394628	G	A	G236394628A	EDARADD	NM_145861.3(EDARADD):c.61+123G>A	noncoding	Benign
1	236409275	G	A	G236409275A	EDARADD	NM_080738.4(EDARADD):c.90+1G>A	coding	Pathogenic
1	236409281	G	A	G236409281A	EDARADD	NM_145861.4(EDARADD):c.120+7G>A	noncoding	Benign
1	236427427	C	T	C236427427T	EDARADD	NM_145861.3(EDARADD):c.196C>T:p.Arg66Ter	coding	Pathogenic
1	236482309	C	T	C236482309T	EDARADD	NM_145861.3(EDARADD):c.308C>T:p.Ser103Phe	coding	Benign/Likely_benign
1	236482366	T	G	T236482366G	EDARADD	NM_080738.4(EDARADD):c.335T>G:p.Leu112Arg	coding	Pathogenic
1	236482368	G	A	G236482368A	EDARADD	NM_080738.4(EDARADD):c.337G>A:p.Asp113Asn	coding	Pathogenic
1	236482370	C	T	C236482370T	EDARADD	NM_145861.3(EDARADD):c.369C>T:p.Asp123=	coding	Benign/Likely_benign
1	236482394	G	A	G236482394A	EDARADD	NM_145861.3(EDARADD):c.393G>A:p.Pro131=	coding	Benign
1	236482455	G	A	G236482455A	EDARADD	NM_080738.4(EDARADD):c.424G>A:p.Glu142Lys	coding	Pathogenic
1	236483605	C	T	C236483605T	EDARADD	NM_145861.4(EDARADD):c.*956C>T	noncoding	Benign
1	236483615	A	G	A236483615G	EDARADD	NM_145861.4(EDARADD):c.*966A>G	noncoding	Benign
1	236483823	A	G	A236483823G	EDARADD	NM_145861.4(EDARADD):c.*1174A>G	noncoding	Benign
1	236484211	T	C	T236484211C	EDARADD	NM_145861.3(EDARADD):c.*1562T>C	noncoding	Benign/Likely_benign
1	236484242	G	T	G236484242T	EDARADD	NM_145861.3(EDARADD):c.*1593G>T	noncoding	Benign/Likely_benign
1	236484250	C	A	C236484250A	EDARADD	NM_145861.3(EDARADD):c.*1601C>A	noncoding	Benign/Likely_benign
1	236484250	C	G	C236484250G	EDARADD	NM_145861.3(EDARADD):c.*1601C>G	noncoding	Benign/Likely_benign
1	236484262	T	C	T236484262C	EDARADD	NM_145861.4(EDARADD):c.*1613T>C	noncoding	Benign
1	236484371	C	T	C236484371T	EDARADD	NM_145861.4(EDARADD):c.*1722C>T	noncoding	Benign
1	236484436	C	T	C236484436T	EDARADD	NM_145861.3(EDARADD):c.*1787C>T	noncoding	Benign/Likely_benign
1	236542934	A	G	A236542934G	LGALS8	NM_006499.4(LGALS8):c.569A>G:p.Asp190Gly	coding	Benign
1	236543613	C	T	C236543613T	LGALS8	NM_006499.4(LGALS8):c.729C>T:p.Val243=	coding	Benign
1	236552116	G	A	G236552116A	HEATR1	NM_018072.6(HEATR1):c.6238-9C>T	coding	Benign
1	236555545	C	G	C236555545G	HEATR1	NM_018072.6(HEATR1):c.5754+6G>C	noncoding	Benign
1	236571596	T	C	T236571596C	HEATR1	NM_018072.6(HEATR1):c.3798A>G:p.Leu1266=	coding	Benign
1	236576869	T	C	T236576869C	HEATR1	NM_018072.6(HEATR1):c.2836A>G:p.Ser946Gly	coding	Benign
1	236585086	A	G	A236585086G	HEATR1	NM_018072.6(HEATR1):c.2180T>C:p.Ile727Thr	coding	Benign
1	236585103	G	C	G236585103C	HEATR1	NM_018072.6(HEATR1):c.2163C>G:p.Thr721=	coding	Benign
1	236585828	A	C	A236585828C	HEATR1	NM_018072.6(HEATR1):c.2041T>G:p.Leu681Val	coding	Benign
1	236592040	G	T	G236592040T	HEATR1	NM_018072.6(HEATR1):c.1375C>A:p.Leu459Ile	coding	Benign
1	236595551	T	C	T236595551C	HEATR1	NM_018072.6(HEATR1):c.1079A>G:p.His360Arg	coding	Benign
1	236599513	C	T	C236599513T	HEATR1	NM_018072.6(HEATR1):c.471G>A:p.Lys157=	coding	Benign
1	236686164	C	T	C236686164T	ACTN2	NC_000001.11:g.236686164C>T	noncoding	Benign
1	236686652	C	T	C236686652T	ACTN2	NM_001103.3(ACTN2):c.-22C>T	noncoding	Benign/Likely_benign
1	236686691	C	T	C236686691T	ACTN2	NM_001103.3(ACTN2):c.18C>T:p.Pro6=	coding	Benign/Likely_benign
1	236686813	C	T	C236686813T	ACTN2	NM_001103.3(ACTN2):c.126+14C>T	noncoding	Benign
1	236686956	A	G	A236686956G	ACTN2	NM_001103.3(ACTN2):c.126+157A>G	noncoding	Benign
1	236687130	G	C	G236687130C	ACTN2	NM_001103.3(ACTN2):c.126+331G>C	noncoding	Benign
1	236717896	C	T	C236717896T	ACTN2	NM_001103.3(ACTN2):c.165C>T:p.Ala55=	coding	Benign/Likely_benign
1	236718103	C	T	C236718103T	ACTN2	NM_001103.3(ACTN2):c.241+131C>T	noncoding	Benign
1	236718107	T	C	T236718107C	ACTN2	NM_001103.3(ACTN2):c.241+135T>C	noncoding	Benign
1	236718274	G	T	G236718274T	ACTN2	NM_001103.3(ACTN2):c.241+302G>T	noncoding	Benign
1	236718810	G	A	G236718810A	ACTN2	NM_001103.3(ACTN2):c.242-84G>A	noncoding	Benign
1	236718984	G	T	G236718984T	ACTN2	NM_001278344.1(ACTN2):c.-490G>T	coding	Pathogenic
1	236719003	T	C	T236719003C	ACTN2	NM_001103.3(ACTN2):c.351=:p.Ile117=	coding	Benign
1	236719007	G	A	G236719007A	ACTN2	NM_001103.3(ACTN2):c.355G>A:p.Ala119Thr	coding	Pathogenic/Likely_pathogenic
1	236719109	C	T	C236719109T	ACTN2	NM_001103.3(ACTN2):c.361+96C>T	noncoding	Benign
1	236719861	A	G	A236719861G	ACTN2	NM_001103.3(ACTN2):c.362-244A>G	noncoding	Benign
1	236719940	T	C	T236719940C	ACTN2	NM_001103.3(ACTN2):c.362-165T>C	noncoding	Benign
1	236720121	C	T	C236720121T	ACTN2	NM_001103.3(ACTN2):c.378=:p.Asn126=	coding	Benign
1	236720184	G	A	G236720184A	ACTN2	NM_001103.3(ACTN2):c.441G>A:p.Ser147=	coding	Benign/Likely_benign
1	236720264	G	A	G236720264A	ACTN2	NM_001103.3(ACTN2):c.448+73G>A	noncoding	Benign
1	236720386	G	T	G236720386T	ACTN2	NM_001103.3(ACTN2):c.448+195G>T	noncoding	Benign
1	236725811	G	C	G236725811C	ACTN2	NM_001103.3(ACTN2):c.449-122G>C	noncoding	Benign
1	236726030	C	T	C236726030T	ACTN2	NM_001103.3(ACTN2):c.536+10C>T	noncoding	Benign
1	236726290	G	A	G236726290A	ACTN2	NM_001103.3(ACTN2):c.536+270G>A	noncoding	Benign
1	236727481	A	G	A236727481G	ACTN2	NM_001103.3(ACTN2):c.537-197A>G	noncoding	Benign
1	236727771	C	T	C236727771T	ACTN2	NM_001103.3(ACTN2):c.615+15C>T	noncoding	Benign/Likely_benign
1	236731347	G	A	G236731347A	ACTN2	NM_001103.3(ACTN2):c.697+33G>A	noncoding	Benign
1	236734207	C	T	C236734207T	ACTN2	NM_001103.3(ACTN2):c.698-1428C>T	noncoding	Benign
1	236734333	A	G	A236734333G	ACTN2	NM_001103.3(ACTN2):c.698-1302A>G	noncoding	Benign
1	236734567	T	C	T236734567C	ACTN2	NM_001103.3(ACTN2):c.698-1068T>C	noncoding	Benign
1	236734735	T	C	T236734735C	ACTN2	NM_001103.3(ACTN2):c.698-900T>C	noncoding	Benign
1	236735642	G	C	G236735642C	ACTN2	NM_001103.4(ACTN2):c.705G>C:p.Val235=	coding	Benign
1	236735681	C	T	C236735681T	ACTN2	NM_001103.3(ACTN2):c.744C>T:p.Tyr248=	coding	Benign/Likely_benign
1	236735742	G	A	G236735742A	ACTN2	NM_001103.3(ACTN2):c.783+22G>A	noncoding	Benign
1	236736718	G	A	G236736718A	ACTN2	NM_001103.3(ACTN2):c.784-404G>A	noncoding	Benign
1	236737208	G	A	G236737208A	ACTN2	NM_001103.4(ACTN2):c.870G>A:p.Ala290=	coding	Benign/Likely_benign
1	236739064	C	T	C236739064T	ACTN2	NM_001103.3(ACTN2):c.877-238C>T	noncoding	Benign
1	236739203	T	C	T236739203C	ACTN2	NM_001103.3(ACTN2):c.877-99T>C	noncoding	Benign
1	236739260	C	T	C236739260T	ACTN2	NM_001103.3(ACTN2):c.877-42C>T	noncoding	Benign
1	236739294	C	G	C236739294G	ACTN2	NM_001103.3(ACTN2):c.877-8C>G	noncoding	Benign/Likely_benign
1	236739296	G	A	G236739296A	ACTN2	NM_001103.3(ACTN2):c.877-6G>A	noncoding	Benign/Likely_benign
1	236739565	A	C	A236739565C	ACTN2	NM_001103.3(ACTN2):c.1107+33A>C	noncoding	Benign
1	236739655	T	C	T236739655C	ACTN2	NM_001103.3(ACTN2):c.1107+123T>C	noncoding	Benign
1	236742891	C	T	C236742891T	ACTN2	NM_001103.3(ACTN2):c.1108-5C>T	noncoding	Benign/Likely_benign
1	236743364	G	A	G236743364A	ACTN2	NM_001103.3(ACTN2):c.1255+321G>A	noncoding	Benign
1	236744547	G	A	G236744547A	ACTN2	NM_001103.3(ACTN2):c.1256-79G>A	noncoding	Benign
1	236744666	G	A	G236744666A	ACTN2	NM_001103.3(ACTN2):c.1296G>A:p.Ala432=	coding	Benign/Likely_benign
1	236744668	C	T	C236744668T	ACTN2	NM_001103.3(ACTN2):c.1298C>T:p.Ser433Leu	coding	Benign/Likely_benign
1	236744702	C	T	C236744702T	ACTN2	NM_001103.3(ACTN2):c.1332C>T:p.His444=	coding	Benign
1	236744711	C	T	C236744711T	ACTN2	NM_001103.3(ACTN2):c.1341C>T:p.Phe447=	coding	Benign/Likely_benign
1	236744741	C	T	C236744741T	ACTN2	NM_001103.3(ACTN2):c.1371C>T:p.Arg457=	coding	Benign/Likely_benign
1	236747683	G	A	G236747683A	ACTN2	NM_001103.4(ACTN2):c.1423G>A:p.Asp475Asn	coding	Benign
1	236747685	C	T	C236747685T	ACTN2	NM_001103.3(ACTN2):c.1425C>T:p.Asp475=	coding	Benign/Likely_benign
1	236747790	C	T	C236747790T	ACTN2	NM_001103.3(ACTN2):c.1515+15C>T	noncoding	Benign
1	236747822	C	T	C236747822T	ACTN2	NM_001103.3(ACTN2):c.1515+47C>T	noncoding	Benign
1	236747921	G	T	G236747921T	ACTN2	NM_001103.3(ACTN2):c.1515+146G>T	noncoding	Benign
1	236748043	C	T	C236748043T	ACTN2	NM_001103.3(ACTN2):c.1515+268C>T	noncoding	Benign
1	236748919	G	T	G236748919T	ACTN2	NM_001103.3(ACTN2):c.1516-205G>T	noncoding	Benign
1	236748986	G	A	G236748986A	ACTN2	NM_001103.3(ACTN2):c.1516-138G>A	noncoding	Benign
1	236749297	A	G	A236749297G	ACTN2	NM_001103.3(ACTN2):c.1656+33A>G	noncoding	Benign
1	236749356	G	T	G236749356T	ACTN2	NM_001103.3(ACTN2):c.1656+92G>T	noncoding	Benign
1	236751276	C	T	C236751276T	ACTN2	NM_001103.3(ACTN2):c.1657-194C>T	noncoding	Benign
1	236751310	G	C	G236751310C	ACTN2	NM_001103.3(ACTN2):c.1657-160G>C	noncoding	Benign
1	236751454	T	C	T236751454C	ACTN2	NM_001103.3(ACTN2):c.1657-16T>C	noncoding	Benign
1	236751506	C	T	C236751506T	ACTN2	NM_001103.3(ACTN2):c.1693C>T:p.Leu565=	coding	Benign/Likely_benign
1	236751517	G	A	G236751517A	ACTN2	NM_001103.3(ACTN2):c.1704G>A:p.Ala568=	coding	Benign/Likely_benign
1	236751561	A	G	A236751561G	ACTN2	NM_001103.3(ACTN2):c.1748A>G:p.Glu583Gly	coding	Benign/Likely_benign
1	236751607	G	A	G236751607A	ACTN2	NM_001103.3(ACTN2):c.1794G>A:p.Pro598=	coding	Benign/Likely_benign
1	236751623	A	G	A236751623G	ACTN2	NM_001103.3(ACTN2):c.1810A>G:p.Met604Val	coding	Benign/Likely_benign
1	236751907	G	A	G236751907A	ACTN2	NM_001103.3(ACTN2):c.1839+255G>A	noncoding	Benign
1	236753990	A	G	A236753990G	ACTN2	NM_001103.3(ACTN2):c.1883A>G:p.Glu628Gly	coding	Pathogenic
1	236754039	C	A	C236754039A	ACTN2	NM_001103.3(ACTN2):c.1932C>A:p.Ala644=	coding	Benign
1	236754091	C	T	C236754091T	ACTN2	NM_001103.3(ACTN2):c.1974+10C>T	noncoding	Benign/Likely_benign
1	236754705	T	C	T236754705C	ACTN2	NM_001103.3(ACTN2):c.1975-314T>C	noncoding	Benign
1	236755007	C	T	C236755007T	ACTN2	NM_001103.3(ACTN2):c.1975-12C>T	noncoding	Benign/Likely_benign
1	236755120	C	T	C236755120T	ACTN2	NM_001103.4(ACTN2):c.2076C>T:p.Ile692=	coding	Benign/Likely_benign
1	236755183	G	A	G236755183A	ACTN2	NM_001103.4(ACTN2):c.2139G>A:p.Thr713=	coding	Benign/Likely_benign
1	236757566	A	G	A236757566G	ACTN2	NM_001103.3(ACTN2):c.2235A>G:p.Arg745=	coding	Benign/Likely_benign
1	236757607	G	C	G236757607C	ACTN2	NM_001103.3(ACTN2):c.2276G>C:p.Arg759Thr	coding	Pathogenic
1	236757660	A	G	A236757660G	ACTN2	NM_001103.3(ACTN2):c.2301+28A>G	noncoding	Benign
1	236759897	C	T	C236759897T	ACTN2	NM_001103.3(ACTN2):c.2367+108C>T	noncoding	Benign
1	236760998	T	C	T236760998C	ACTN2	NM_001103.3(ACTN2):c.2368-17T>C	noncoding	Benign
1	236761181	T	C	T236761181C	ACTN2	NM_001103.3(ACTN2):c.2526+8T>C	noncoding	Benign
1	236761206	A	G	A236761206G	ACTN2	NM_001103.3(ACTN2):c.2526+33A>G	noncoding	Benign
1	236762460	G	A	G236762460A	ACTN2	NM_001103.3(ACTN2):c.2527-1G>A	noncoding	Pathogenic
1	236762512	C	T	C236762512T	ACTN2	NM_001103.3(ACTN2):c.2578C>T:p.Gln860Ter	coding	Pathogenic
1	236762544	G	A	G236762544A	ACTN2	NM_001103.3(ACTN2):c.2610G>A:p.Ser870=	coding	Benign/Likely_benign
1	236795503	C	G	C236795503G	MTR	NM_000254.2(MTR):c.-201C>G	noncoding	Benign
1	236795553	C	T	C236795553T	MTR	NM_000254.2(MTR):c.-151C>T	noncoding	Benign
1	236795593	C	T	C236795593T	MTR	NM_000254.2(MTR):c.-111C>T	noncoding	Benign
1	236795637	C	T	C236795637T	MTR	NM_000254.2(MTR):c.-67C>T	noncoding	Benign
1	236803548	G	A	G236803548A	MTR	NM_000254.2(MTR):c.155G>A:p.Arg52Gln	coding	Benign/Likely_benign
1	236806137	G	A	G236806137A	MTR	NM_000254.2(MTR):c.250-7G>A	noncoding	Benign
1	236808698	C	T	C236808698T	MTR	NM_000254.2(MTR):c.340-6C>T	noncoding	Benign
1	236815603	G	T	G236815603T	MTR	NM_000254.3(MTR):c.610-1G>T	noncoding	Pathogenic
1	236824212	C	T	C236824212T	MTR	NM_000254.2(MTR):c.858C>T:p.Pro286=	coding	Benign/Likely_benign
1	236826841	G	A	G236826841A	MTR	NM_000254.2(MTR):c.940G>A:p.Asp314Asn	coding	Benign
1	236831958	C	T	C236831958T	MTR	NM_000254.2(MTR):c.1076-8C>T	noncoding	Benign/Likely_benign
1	236835586	G	C	G236835586C	MTR	NM_000254.2(MTR):c.1228G>C:p.Ala410Pro	coding	Pathogenic
1	236838521	C	T	C236838521T	MTR	NM_000254.2(MTR):c.1437C>T:p.Asp479=	coding	Benign
1	236838569	G	A	G236838569A	MTR	NM_000254.2(MTR):c.1485G>A:p.Met495Ile	coding	Benign/Likely_benign
1	236852578	C	T	C236852578T	MTR	NM_000254.2(MTR):c.1753C>T:p.Arg585Ter	coding	Pathogenic
1	236861114	G	T	G236861114T	MTR	NM_000254.2(MTR):c.2044-11G>T	noncoding	Benign
1	236861116	C	T	C236861116T	MTR	NM_000254.2(MTR):c.2044-9C>T	noncoding	Benign/Likely_benign
1	236863498	C	T	C236863498T	MTR	NM_000254.2(MTR):c.2349C>T:p.Asp783=	coding	Benign/Likely_benign
1	236863555	G	A	G236863555A	MTR	NM_000254.3(MTR):c.2405+1G>A	coding	Pathogenic
1	236873843	A	G	A236873843G	MTR	NM_000254.3(MTR):c.2473+3A>G	noncoding	Pathogenic
1	236873848	G	T	G236873848T	MTR	NM_000254.2(MTR):c.2473+8G>T	noncoding	Benign/Likely_benign
1	236874708	T	A	T236874708A	MTR	NM_000254.2(MTR):c.2474-18T>A	noncoding	Benign
1	236874725	G	C	G236874725C	MTR	NM_000254.3(MTR):c.2474-1G>C	noncoding	Pathogenic
1	236874861	T	C	T236874861C	MTR	NM_000254.2(MTR):c.2594+15T>C	noncoding	Benign
1	236885200	A	G	A236885200G	MTR	NM_000254.2(MTR):c.2756A>G:p.Asp919Gly	coding	Benign
1	236885216	C	G	C236885216G	MTR	NM_000254.2(MTR):c.2772C>G:p.Leu924=	coding	Benign/Likely_benign
1	236886331	G	C	G236886331C	MTR	NM_000254.2(MTR):c.2815G>C:p.Gly939Arg	coding	Benign/Likely_benign
1	236891266	C	T	C236891266T	MTR	NM_000254.2(MTR):c.3141C>T:p.Tyr1047=	coding	Benign/Likely_benign
1	236891269	A	G	A236891269G	MTR	NM_000254.2(MTR):c.3144A>G:p.Ala1048=	coding	Benign
1	236895391	C	T	C236895391T	MTR	NM_000254.2(MTR):c.3439C>T:p.Arg1147Ter	coding	Pathogenic
1	236895426	G	A	G236895426A	MTR	NM_000254.2(MTR):c.3474G>A:p.Leu1158=	coding	Benign
1	236895429	C	T	C236895429T	MTR	NM_000254.2(MTR):c.3477C>T:p.Asp1159=	coding	Benign
1	236895443	G	A	G236895443A	MTR	NM_000254.2(MTR):c.3491G>A:p.Arg1164His	coding	Benign
1	236895444	C	A	C236895444A	MTR	NM_000254.2(MTR):c.3492C>A:p.Arg1164=	coding	Benign
1	236895448	C	T	C236895448T	MTR	NM_000254.2(MTR):c.3496C>T:p.Leu1166=	coding	Benign
1	236895470	C	T	C236895470T	MTR	NM_000254.2(MTR):c.3518C>T:p.Pro1173Leu	coding	Pathogenic/Likely_pathogenic
1	236895528	C	T	C236895528T	MTR	NM_000254.2(MTR):c.3576C>T:p.Leu1192=	coding	Benign
1	236895535	A	G	A236895535G	MTR	NM_000254.2(MTR):c.3583A>G:p.Ile1195Val	coding	Benign/Likely_benign
1	236896988	C	T	C236896988T	MTR	NM_000254.2(MTR):c.3599-18C>T	noncoding	Benign
1	236896995	G	A	G236896995A	MTR	NM_000254.2(MTR):c.3599-11G>A	noncoding	Benign
1	236896996	C	A	C236896996A	MTR	NM_000254.2(MTR):c.3599-10C>A	noncoding	Benign
1	236897020	G	T	G236897020T	MTR	NM_000254.2(MTR):c.3613G>T:p.Glu1205Ter	coding	Pathogenic
1	236897072	A	G	A236897072G	MTR	NM_000254.2(MTR):c.3665A>G:p.Asn1222Ser	coding	Benign
1	236897133	G	T	G236897133T	MTR	NM_000254.2(MTR):c.3711+15G>T	noncoding	Benign
1	236897550	T	C	T236897550C	MTR	NM_000254.2(MTR):c.3712-8T>C	noncoding	Benign
1	236897551	T	G	T236897551G	MTR	NM_000254.2(MTR):c.3712-7T>G	noncoding	Benign/Likely_benign
1	236897756	A	C	A236897756C	MTR	NM_000254.2(MTR):c.*112A>C	noncoding	Benign
1	236897797	A	G	A236897797G	MTR	NM_000254.2(MTR):c.*153A>G	noncoding	Benign
1	236898898	A	C	A236898898C	MTR	NM_000254.2(MTR):c.*1254A>C	noncoding	Benign
1	236898994	A	G	A236898994G	MTR	NM_000254.3(MTR):c.*1350A>G	noncoding	Benign
1	236899005	A	G	A236899005G	MTR	NM_000254.2(MTR):c.*1361A>G	noncoding	Benign
1	236899027	C	T	C236899027T	MTR	NM_000254.2(MTR):c.*1383C>T	noncoding	Benign
1	236899113	T	C	T236899113C	MTR	NM_000254.2(MTR):c.*1469T>C	noncoding	Benign
1	236899132	T	C	T236899132C	MTR	NM_000254.2(MTR):c.*1488T>C	noncoding	Benign
1	236899328	C	T	C236899328T	MTR	NM_000254.2(MTR):c.*1684C>T	noncoding	Benign
1	236899556	G	T	G236899556T	MTR	NM_000254.2(MTR):c.*1912G>T	noncoding	Benign
1	236899758	A	G	A236899758G	MTR	NM_000254.2(MTR):c.*2114A>G	noncoding	Benign
1	236900032	G	C	G236900032C	MTR	NM_000254.2(MTR):c.*2388G>C	noncoding	Benign
1	236900035	G	C	G236900035C	MTR	NM_000254.2(MTR):c.*2391G>C	noncoding	Benign
1	236900204	A	G	A236900204G	MTR	NM_000254.2(MTR):c.*2560A>G	noncoding	Benign
1	236900228	C	T	C236900228T	MTR	NM_000254.3(MTR):c.*2584C>T	noncoding	Benign
1	236900448	T	C	T236900448C	MTR	NM_000254.2(MTR):c.*2804T>C	noncoding	Benign
1	236900784	G	A	G236900784A	MTR	NM_000254.2(MTR):c.*3140G>A	noncoding	Benign
1	236900813	A	T	A236900813T	MTR	NM_000254.3(MTR):c.*3169A>T	noncoding	Benign
1	236900818	C	T	C236900818T	MTR	NM_000254.2(MTR):c.*3174C>T	noncoding	Benign
1	236901108	A	G	A236901108G	MTR	NM_000254.2(MTR):c.*3464A>G	noncoding	Benign
1	236901156	G	A	G236901156A	MTR	NM_000254.3(MTR):c.*3512G>A	noncoding	Benign
1	236901245	G	A	G236901245A	MTR	NM_000254.2(MTR):c.*3601G>A	noncoding	Benign
1	236901326	T	G	T236901326G	MTR	NM_000254.2(MTR):c.*3682T>G	noncoding	Benign
1	236901554	G	A	G236901554A	MTR	NM_000254.2(MTR):c.*3910G>A	noncoding	Benign
1	236901709	A	G	A236901709G	MTR	NM_000254.2(MTR):c.*4065A>G	noncoding	Benign
1	236901741	C	T	C236901741T	MTR	NM_000254.3(MTR):c.*4097C>T	noncoding	Benign
1	236901930	T	C	T236901930C	MTR	NM_000254.2(MTR):c.*4286T>C	noncoding	Benign
1	236902026	C	T	C236902026T	MTR	NM_000254.2(MTR):c.*4382C>T	noncoding	Benign
1	236902283	G	T	G236902283T	MTR	NM_000254.2(MTR):c.*4639G>T	noncoding	Benign
1	236902292	G	A	G236902292A	MTR	NM_000254.2(MTR):c.*4648G>A	noncoding	Benign
1	236902420	A	C	A236902420C	MTR	NM_000254.2(MTR):c.*4776A>C	noncoding	Benign
1	236902510	T	G	T236902510G	MTR	NM_000254.2(MTR):c.*4866T>G	noncoding	Benign
1	236902814	A	G	A236902814G	MTR	NM_000254.2(MTR):c.*5170A>G	noncoding	Benign
1	236902938	G	C	G236902938C	MTR	NM_000254.2(MTR):c.*5294G>C	noncoding	Benign
1	236903179	G	A	G236903179A	MTR	NM_000254.2(MTR):c.*5535G>A	noncoding	Benign
1	236903400	C	A	C236903400A	MTR	NM_000254.3(MTR):c.*5756C>A	noncoding	Benign
1	236903400	C	G	C236903400G	MTR	NM_000254.3(MTR):c.*5756C>G	noncoding	Benign
1	236903526	G	A	G236903526A	MTR	NM_000254.2(MTR):c.*5882G>A	noncoding	Benign
1	236903553	C	T	C236903553T	MTR	NM_000254.2(MTR):c.*5909C>T	noncoding	Benign
1	237042606	G	A	G237042606A	RYR2	NM_001035.3(RYR2):c.48+37G>A	noncoding	Benign
1	237270224	C	T	C237270224T	RYR2	NM_001035.3(RYR2):c.49-273C>T	noncoding	Benign
1	237270325	C	T	C237270325T	RYR2	NM_001035.3(RYR2):c.49-172C>T	noncoding	Benign
1	237270881	G	A	G237270881A	RYR2	NM_001035.3(RYR2):c.168+265G>A	noncoding	Benign
1	237270951	A	T	A237270951T	RYR2	NM_001035.3(RYR2):c.168+335A>T	noncoding	Benign
1	237330939	C	T	C237330939T	RYR2	NM_001035.3(RYR2):c.230C>T:p.Ala77Val	coding	Pathogenic
1	237330940	G	A	G237330940A	RYR2	NM_001035.3(RYR2):c.231G>A:p.Ala77=	coding	Benign/Likely_benign
1	237331000	G	A	G237331000A	RYR2	NM_001035.3(RYR2):c.273+18G>A	noncoding	Benign
1	237355837	T	A	T237355837A	RYR2	NM_001035.3(RYR2):c.274-128T>A	noncoding	Benign
1	237355865	G	T	G237355865T	RYR2	NM_001035.3(RYR2):c.274-100G>T	noncoding	Benign
1	237364379	C	T	C237364379T	RYR2	NM_001035.3(RYR2):c.309+7C>T	noncoding	Benign
1	237364557	G	A	G237364557A	RYR2	NM_001035.3(RYR2):c.309+185G>A	noncoding	Benign
1	237369599	T	C	T237369599C	RYR2	NM_001035.3(RYR2):c.375T>C:p.Tyr125=	coding	Benign/Likely_benign
1	237374703	T	C	T237374703C	RYR2	NM_001035.3(RYR2):c.385-14T>C	noncoding	Benign/Likely_benign
1	237374708	A	C	A237374708C	RYR2	NM_001035.3(RYR2):c.385-9A>C	noncoding	Benign/Likely_benign
1	237374708	A	G	A237374708G	RYR2	NM_001035.3(RYR2):c.385-9A>G	noncoding	Benign
1	237374802	A	G	A237374802G	RYR2	NM_001035.3(RYR2):c.463+7A>G	noncoding	Benign/Likely_benign
1	237377315	A	C	A237377315C	RYR2	NM_001035.3(RYR2):c.464-8A>C	noncoding	Benign
1	237377365	G	A	G237377365A	RYR2	NM_001035.3(RYR2):c.506G>A:p.Arg169Gln	coding	Pathogenic/Likely_pathogenic
1	237377365	G	T	G237377365T	RYR2	NM_001035.3(RYR2):c.506G>T:p.Arg169Leu	coding	Pathogenic
1	237377386	G	A	G237377386A	RYR2	NM_001035.3(RYR2):c.527G>A:p.Arg176Gln	coding	Pathogenic
1	237377427	A	G	A237377427G	RYR2	NM_001035.3(RYR2):c.568A>G:p.Arg190Gly	coding	Pathogenic
1	237377442	G	C	G237377442C	RYR2	NM_001035.3(RYR2):c.576+7G>C	noncoding	Benign/Likely_benign
1	237387023	A	C	A237387023C	RYR2	NM_001035.3(RYR2):c.577-258A>C	noncoding	Benign
1	237387298	C	T	C237387298T	RYR2	NM_001035.3(RYR2):c.594C>T:p.Asn198=	coding	Benign/Likely_benign
1	237388076	T	A	T237388076A	RYR2	NM_001035.3(RYR2):c.677-11T>A	noncoding	Benign
1	237388099	G	A	G237388099A	RYR2	NM_001035.3(RYR2):c.689G>A:p.Gly230Asp	coding	Pathogenic
1	237388136	C	T	C237388136T	RYR2	NM_001035.3(RYR2):c.726C>T:p.Asp242=	coding	Benign/Likely_benign
1	237417306	G	T	G237417306T	RYR2	NM_001035.3(RYR2):c.848+183G>T	noncoding	Benign
1	237417312	G	C	G237417312C	RYR2	NM_001035.3(RYR2):c.848+189G>C	noncoding	Benign
1	237422836	T	A	T237422836A	RYR2	NM_001035.3(RYR2):c.849-256T>A	noncoding	Benign
1	237422896	C	T	C237422896T	RYR2	NM_001035.3(RYR2):c.849-196C>T	noncoding	Benign
1	237423084	T	C	T237423084C	RYR2	NM_001035.3(RYR2):c.849-8T>C	noncoding	Benign
1	237423261	A	G	A237423261G	RYR2	NM_001035.3(RYR2):c.1005+13A>G	noncoding	Benign/Likely_benign
1	237441366	A	G	A237441366G	RYR2	NM_001035.3(RYR2):c.1053A>G:p.Thr351=	coding	Benign/Likely_benign
1	237441382	G	A	G237441382A	RYR2	NM_001035.3(RYR2):c.1069G>A:p.Gly357Ser	coding	Pathogenic
1	237441421	C	T	C237441421T	RYR2	NM_001035.3(RYR2):c.1108C>T:p.Leu370=	coding	Benign/Likely_benign
1	237441423	A	G	A237441423G	RYR2	NM_001035.3(RYR2):c.1110A>G:p.Leu370=	coding	Benign/Likely_benign
1	237441447	C	T	C237441447T	RYR2	NM_001035.3(RYR2):c.1134C>T:p.Asp378=	coding	Benign/Likely_benign
1	237441456	C	T	C237441456T	RYR2	NM_001035.3(RYR2):c.1143C>T:p.Ser381=	coding	Benign/Likely_benign
1	237441748	T	C	T237441748C	RYR2	NM_001035.3(RYR2):c.1170+265T>C	noncoding	Benign
1	237445135	C	T	C237445135T	RYR2	NM_001035.3(RYR2):c.1171-266C>T	noncoding	Benign
1	237445448	G	A	G237445448A	RYR2	NM_001035.3(RYR2):c.1218G>A:p.Ser406=	coding	Benign/Likely_benign
1	237445488	C	T	C237445488T	RYR2	NM_001035.3(RYR2):c.1258C>T:p.Arg420Trp	coding	Pathogenic
1	237445489	G	A	G237445489A	RYR2	NM_001035.3(RYR2):c.1259G>A:p.Arg420Gln	coding	Pathogenic
1	237445541	G	A	G237445541A	RYR2	NM_001035.3(RYR2):c.1292+19G>A	noncoding	Benign
1	237445542	C	T	C237445542T	RYR2	NM_001035.3(RYR2):c.1292+20C>T	noncoding	Benign
1	237454099	A	C	A237454099C	RYR2	NM_001035.3(RYR2):c.1293-292A>C	noncoding	Benign
1	237454119	T	A	T237454119A	RYR2	NM_001035.3(RYR2):c.1293-272T>A	noncoding	Benign
1	237454125	T	C	T237454125C	RYR2	NM_001035.3(RYR2):c.1293-266T>C	noncoding	Benign
1	237454394	C	A	C237454394A	RYR2	NM_001035.3(RYR2):c.1296C>A:p.Gly432=	coding	Benign/Likely_benign
1	237454396	T	C	T237454396C	RYR2	NM_001035.3(RYR2):c.1298T>C:p.Leu433Pro	coding	Pathogenic
1	237454457	C	T	C237454457T	RYR2	NM_001035.3(RYR2):c.1359C>T:p.Ser453=	coding	Benign
1	237454734	G	A	G237454734A	RYR2	NM_001035.3(RYR2):c.1476+160G>A	noncoding	Benign
1	237456642	G	A	G237456642A	RYR2	NM_001035.3(RYR2):c.1519G>A:p.Val507Ile	coding	Benign/Likely_benign
1	237456734	G	A	G237456734A	RYR2	NM_001035.3(RYR2):c.1611G>A:p.Leu537=	coding	Benign
1	237456749	T	C	T237456749C	RYR2	NM_001035.3(RYR2):c.1612+14T>C	noncoding	Benign
1	237491531	G	T	G237491531T	RYR2	NM_001035.3(RYR2):c.1709-275G>T	noncoding	Benign
1	237491873	A	T	A237491873T	RYR2	NM_001035.3(RYR2):c.1776A>T:p.Gly592=	coding	Benign
1	237492989	C	T	C237492989T	RYR2	NM_001035.3(RYR2):c.1863C>T:p.His621=	coding	Benign/Likely_benign
1	237496595	A	G	A237496595G	RYR2	NM_001035.3(RYR2):c.2046A>G:p.Thr682=	coding	Benign/Likely_benign
1	237500457	G	A	G237500457A	RYR2	NM_001035.3(RYR2):c.2204-254G>A	noncoding	Benign
1	237500695	G	T	G237500695T	RYR2	NM_001035.3(RYR2):c.2204-16G>T	noncoding	Benign
1	237500704	C	G	C237500704G	RYR2	NM_001035.3(RYR2):c.2204-7C>G	noncoding	Benign/Likely_benign
1	237500808	G	T	G237500808T	RYR2	NM_001035.3(RYR2):c.2301G>T:p.Ser767=	coding	Benign/Likely_benign
1	237502993	C	G	C237502993G	RYR2	NM_001035.3(RYR2):c.2397-296C>G	noncoding	Benign
1	237503273	C	T	C237503273T	RYR2	NM_001035.3(RYR2):c.2397-16C>T	noncoding	Benign
1	237503283	C	T	C237503283T	RYR2	NM_001035.3(RYR2):c.2397-6C>T	noncoding	Benign
1	237503481	A	T	A237503481T	RYR2	NM_001035.3(RYR2):c.2589A>T:p.Thr863=	coding	Benign
1	237503521	C	T	C237503521T	RYR2	NM_001035.3(RYR2):c.2613+16C>T	noncoding	Benign
1	237506726	A	C	A237506726C	RYR2	NM_001035.3(RYR2):c.2630A>C:p.His877Pro	coding	Benign/Likely_benign
1	237506739	A	C	A237506739C	RYR2	NM_001035.3(RYR2):c.2643A>C:p.Ile881=	coding	Benign/Likely_benign
1	237506840	A	G	A237506840G	RYR2	NM_001035.3(RYR2):c.2718+26A>G	noncoding	Benign
1	237511863	G	A	G237511863A	RYR2	NM_001035.3(RYR2):c.2822+72G>A	noncoding	Benign
1	237511955	T	C	T237511955C	RYR2	NM_001035.3(RYR2):c.2822+164T>C	noncoding	Benign
1	237530621	A	G	A237530621G	RYR2	NM_001035.3(RYR2):c.2906+111A>G	noncoding	Benign
1	237548157	A	G	A237548157G	RYR2	NM_001035.3(RYR2):c.2907-274A>G	noncoding	Benign
1	237548259	T	G	T237548259G	RYR2	NM_001035.3(RYR2):c.2907-172T>G	noncoding	Benign
1	237548344	T	C	T237548344C	RYR2	NM_001035.3(RYR2):c.2907-87T>C	noncoding	Benign
1	237548497	A	G	A237548497G	RYR2	NM_001035.3(RYR2):c.2973A>G:p.Ser991=	coding	Benign
1	237548548	G	A	G237548548A	RYR2	NM_001035.3(RYR2):c.3024G>A:p.Ala1008=	coding	Benign/Likely_benign
1	237548554	T	C	T237548554C	RYR2	NM_001035.3(RYR2):c.3030T>C:p.Asp1010=	coding	Benign/Likely_benign
1	237550803	G	A	G237550803A	RYR2	NM_001035.3(RYR2):c.3214+112G>A	noncoding	Benign
1	237566474	G	A	G237566474A	RYR2	NM_001035.3(RYR2):c.3215-93G>A	noncoding	Benign
1	237566577	C	T	C237566577T	RYR2	NM_001035.3(RYR2):c.3225C>T:p.Ala1075=	coding	Benign/Likely_benign
1	237566724	G	A	G237566724A	RYR2	NM_001035.3(RYR2):c.3372G>A:p.Pro1124=	coding	Benign/Likely_benign
1	237566759	C	T	C237566759T	RYR2	NM_001035.3(RYR2):c.3407C>T:p.Ala1136Val	coding	Benign/Likely_benign
1	237566824	A	G	A237566824G	RYR2	NM_001035.3(RYR2):c.3423+49A>G	noncoding	Benign
1	237566869	C	T	C237566869T	RYR2	NM_001035.3(RYR2):c.3423+94C>T	noncoding	Benign
1	237566917	C	T	C237566917T	RYR2	NM_001035.3(RYR2):c.3423+142C>T	noncoding	Benign
1	237568919	T	A	T237568919A	RYR2	NM_001035.3(RYR2):c.3424-226T>A	noncoding	Benign
1	237568933	G	A	G237568933A	RYR2	NM_001035.3(RYR2):c.3424-212G>A	noncoding	Benign
1	237569032	C	T	C237569032T	RYR2	NM_001035.3(RYR2):c.3424-113C>T	noncoding	Benign
1	237569095	G	A	G237569095A	RYR2	NM_001035.3(RYR2):c.3424-50G>A	noncoding	Benign
1	237569258	T	C	T237569258C	RYR2	NM_001035.3(RYR2):c.3537T>C:p.Gly1179=	coding	Benign/Likely_benign
1	237569373	C	T	C237569373T	RYR2	NM_001035.3(RYR2):c.3598+54C>T	noncoding	Benign
1	237589566	C	T	C237589566T	RYR2	NM_001035.3(RYR2):c.3599-227C>T	noncoding	Benign
1	237589568	T	C	T237589568C	RYR2	NM_001035.3(RYR2):c.3599-225T>C	noncoding	Benign
1	237589914	C	T	C237589914T	RYR2	NM_001035.3(RYR2):c.3720C>T:p.Ala1240=	coding	Benign/Likely_benign
1	237590064	A	C	A237590064C	RYR2	NM_001035.3(RYR2):c.3807+63A>C	noncoding	Benign
1	237590090	A	G	A237590090G	RYR2	NM_001035.3(RYR2):c.3807+89A>G	noncoding	Benign
1	237590681	A	G	A237590681G	RYR2	NM_001035.3(RYR2):c.3849A>G:p.Leu1283=	coding	Benign
1	237590765	G	A	G237590765A	RYR2	NM_001035.3(RYR2):c.3933G>A:p.Ala1311=	coding	Benign
1	237590926	C	T	C237590926T	RYR2	NM_001035.3(RYR2):c.4094C>T:p.Ala1365Val	coding	Benign/Likely_benign
1	237590933	A	G	A237590933G	RYR2	NM_001035.3(RYR2):c.4101A>G:p.Lys1367=	coding	Benign/Likely_benign
1	237591008	G	A	G237591008A	RYR2	NM_001035.3(RYR2):c.4160+16G>A	noncoding	Benign
1	237591040	A	G	A237591040G	RYR2	NM_001035.3(RYR2):c.4160+48A>G	noncoding	Benign
1	237591305	G	A	G237591305A	RYR2	NM_001035.3(RYR2):c.4160+313G>A	noncoding	Benign
1	237591550	A	G	A237591550G	RYR2	NM_001035.3(RYR2):c.4161-189A>G	noncoding	Benign
1	237591776	A	G	A237591776G	RYR2	NM_001035.3(RYR2):c.4198A>G:p.Ser1400Gly	coding	Benign/Likely_benign
1	237591888	C	T	C237591888T	RYR2	NM_001035.3(RYR2):c.4275+35C>T	noncoding	Benign
1	237591903	T	C	T237591903C	RYR2	NM_001035.3(RYR2):c.4275+50T>C	noncoding	Benign
1	237592048	T	C	T237592048C	RYR2	NM_001035.3(RYR2):c.4275+195T>C	noncoding	Benign
1	237592102	T	G	T237592102G	RYR2	NM_001035.3(RYR2):c.4275+249T>G	noncoding	Benign
1	237593547	T	C	T237593547C	RYR2	NM_001035.3(RYR2):c.4347T>C:p.Asp1449=	coding	Benign/Likely_benign
1	237593727	G	A	G237593727A	RYR2	NM_001035.3(RYR2):c.4436+91G>A	noncoding	Benign
1	237595549	C	T	C237595549T	RYR2	NM_001035.3(RYR2):c.4488C>T:p.Pro1496=	coding	Benign/Likely_benign
1	237595669	G	A	G237595669A	RYR2	NM_001035.3(RYR2):c.4596+12G>A	noncoding	Benign/Likely_benign
1	237601900	G	A	G237601900A	RYR2	NM_001035.3(RYR2):c.4597-125G>A	noncoding	Benign
1	237602033	G	A	G237602033A	RYR2	NM_001035.3(RYR2):c.4605G>A:p.Pro1535=	coding	Benign/Likely_benign
1	237602170	A	T	A237602170T	RYR2	NM_001035.3(RYR2):c.4683+59A>T	noncoding	Benign
1	237602357	G	A	G237602357A	RYR2	NM_001035.3(RYR2):c.4683+246G>A	noncoding	Benign
1	237602375	G	C	G237602375C	RYR2	NM_001035.3(RYR2):c.4683+264G>C	noncoding	Benign
1	237602376	C	T	C237602376T	RYR2	NM_001035.3(RYR2):c.4683+265C>T	noncoding	Benign
1	237610751	C	T	C237610751T	RYR2	NM_001035.3(RYR2):c.4684-11C>T	noncoding	Benign
1	237610757	G	C	G237610757C	RYR2	NM_001035.3(RYR2):c.4684-5G>C	noncoding	Benign
1	237610773	T	C	T237610773C	RYR2	NM_001035.3(RYR2):c.4695T>C:p.Pro1565=	coding	Benign/Likely_benign
1	237610818	G	A	G237610818A	RYR2	NM_001035.3(RYR2):c.4740G>A:p.Pro1580=	coding	Benign/Likely_benign
1	237611314	C	T	C237611314T	RYR2	NM_001035.3(RYR2):c.4910+326C>T	noncoding	Benign
1	237614020	A	G	A237614020G	RYR2	NM_001035.3(RYR2):c.4911-19A>G	noncoding	Benign
1	237614117	C	T	C237614117T	RYR2	NM_001035.3(RYR2):c.4989C>T:p.Ala1663=	coding	Benign/Likely_benign
1	237614129	T	C	T237614129C	RYR2	NM_001035.3(RYR2):c.5001T>C:p.Leu1667=	coding	Benign/Likely_benign
1	237614264	C	T	C237614264T	RYR2	NM_001035.3(RYR2):c.5136C>T:p.Ser1712=	coding	Benign/Likely_benign
1	237614282	G	A	G237614282A	RYR2	NM_001035.3(RYR2):c.5154G>A:p.Arg1718=	coding	Benign/Likely_benign
1	237614298	G	A	G237614298A	RYR2	NM_001035.3(RYR2):c.5170G>A:p.Glu1724Lys	coding	Pathogenic/Likely_pathogenic
1	237614369	C	G	C237614369G	RYR2	NM_001035.3(RYR2):c.5241C>G:p.Gly1747=	coding	Benign/Likely_benign
1	237614528	A	G	A237614528G	RYR2	NM_001035.3(RYR2):c.5400A>G:p.Lys1800=	coding	Benign
1	237614741	C	T	C237614741T	RYR2	NM_001035.3(RYR2):c.5613C>T:p.Asp1871=	coding	Benign
1	237614782	G	A	G237614782A	RYR2	NM_001035.3(RYR2):c.5654G>A:p.Gly1885Glu	coding	Benign
1	237614784	G	A	G237614784A	RYR2	NM_001035.3(RYR2):c.5656G>A:p.Gly1886Ser	coding	Benign/Likely_benign
1	237617405	C	T	C237617405T	RYR2	NM_001035.3(RYR2):c.5835C>T:p.Asn1945=	coding	Benign/Likely_benign
1	237623951	C	T	C237623951T	RYR2	NM_001035.3(RYR2):c.6022+81C>T	noncoding	Benign
1	237625486	G	A	G237625486A	RYR2	NM_001035.3(RYR2):c.6023-175G>A	noncoding	Benign
1	237625526	C	G	C237625526G	RYR2	NM_001035.3(RYR2):c.6023-135C>G	noncoding	Benign
1	237625544	T	C	T237625544C	RYR2	NM_001035.3(RYR2):c.6023-117T>C	noncoding	Benign
1	237625562	T	C	T237625562C	RYR2	NM_001035.3(RYR2):c.6023-99T>C	noncoding	Benign
1	237626007	A	G	A237626007G	RYR2	NM_001035.3(RYR2):c.6166+203A>G	noncoding	Benign
1	237626017	A	G	A237626017G	RYR2	NM_001035.3(RYR2):c.6166+213A>G	noncoding	Benign
1	237627513	A	G	A237627513G	RYR2	NM_001035.3(RYR2):c.6167-294A>G	noncoding	Benign
1	237627842	C	T	C237627842T	RYR2	NM_001035.3(RYR2):c.6202C>T:p.Arg2068Ter	coding	Pathogenic
1	237628100	C	T	C237628100T	RYR2	NM_001035.3(RYR2):c.6440+20C>T	noncoding	Benign
1	237631303	A	G	A237631303G	RYR2	NM_001035.3(RYR2):c.6441-124A>G	noncoding	Benign
1	237631408	C	T	C237631408T	RYR2	NM_001035.3(RYR2):c.6441-19C>T	noncoding	Benign
1	237631547	G	A	G237631547A	RYR2	NM_001035.3(RYR2):c.6555+6G>A	noncoding	Benign/Likely_benign
1	237631549	C	G	C237631549G	RYR2	NM_001035.3(RYR2):c.6555+8C>G	noncoding	Benign/Likely_benign
1	237631549	C	T	C237631549T	RYR2	NM_001035.3(RYR2):c.6555+8C>T	noncoding	Benign/Likely_benign
1	237633459	G	C	G237633459C	RYR2	NM_001035.3(RYR2):c.6556-119G>C	noncoding	Benign
1	237633537	G	A	G237633537A	RYR2	NM_001035.3(RYR2):c.6556-41G>A	noncoding	Benign
1	237633550	A	G	A237633550G	RYR2	NM_001035.3(RYR2):c.6556-28A>G	noncoding	Benign
1	237633782	T	G	T237633782G	RYR2	NM_001035.3(RYR2):c.6688+72T>G	noncoding	Benign
1	237633803	C	A	C237633803A	RYR2	NM_001035.3(RYR2):c.6688+93C>A	noncoding	Benign
1	237634673	C	T	C237634673T	RYR2	NM_001035.3(RYR2):c.6689-216C>T	noncoding	Benign
1	237634697	A	G	A237634697G	RYR2	NM_001035.3(RYR2):c.6689-192A>G	noncoding	Benign
1	237634937	C	T	C237634937T	RYR2	NM_001035.3(RYR2):c.6737C>T:p.Ser2246Leu	coding	Pathogenic
1	237634938	G	T	G237634938T	RYR2	NM_001035.3(RYR2):c.6738G>T:p.Ser2246=	coding	Benign/Likely_benign
1	237635150	G	A	G237635150A	RYR2	NM_001035.3(RYR2):c.6792+158G>A	noncoding	Benign
1	237638470	T	C	T237638470C	RYR2	NM_001035.3(RYR2):c.6906T>C:p.Leu2302=	coding	Benign
1	237638480	G	A	G237638480A	RYR2	NM_001035.3(RYR2):c.6916G>A:p.Val2306Ile	coding	Pathogenic
1	237638480	G	C	G237638480C	RYR2	NM_001035.3(RYR2):c.6916G>C:p.Val2306Leu	coding	Pathogenic
1	237638496	G	A	G237638496A	RYR2	NM_001035.3(RYR2):c.6928+4G>A	noncoding	Benign
1	237638765	A	G	A237638765G	RYR2	NM_001035.3(RYR2):c.6929-250A>G	noncoding	Benign
1	237639068	C	T	C237639068T	RYR2	NM_001035.3(RYR2):c.6982C>T:p.Pro2328Ser	coding	Pathogenic
1	237639124	A	C	A237639124C	RYR2	NM_001035.3(RYR2):c.7038A>C:p.Ala2346=	coding	Benign/Likely_benign
1	237639148	C	T	C237639148T	RYR2	NM_001035.3(RYR2):c.7062C>T:p.Ala2354=	coding	Benign/Likely_benign
1	237640938	A	T	A237640938T	RYR2	NM_001035.3(RYR2):c.7157A>T:p.Asn2386Ile	coding	Pathogenic
1	237640940	G	A	G237640940A	RYR2	NM_001035.3(RYR2):c.7159G>A:p.Ala2387Thr	coding	Pathogenic/Likely_pathogenic
1	237640941	C	T	C237640941T	RYR2	NM_001035.3(RYR2):c.7160C>T:p.Ala2387Val	coding	Pathogenic/Likely_pathogenic
1	237640942	G	A	G237640942A	RYR2	NM_001035.3(RYR2):c.7161G>A:p.Ala2387=	coding	Benign/Likely_benign
1	237640970	G	T	G237640970T	RYR2	NM_001035.3(RYR2):c.7189G>T:p.Asp2397Tyr	coding	Pathogenic
1	237640983	G	T	G237640983T	RYR2	NM_001035.3(RYR2):c.7202G>T:p.Arg2401Leu	coding	Pathogenic
1	237643036	G	A	G237643036A	RYR2	NM_001035.3(RYR2):c.7222-291G>A	noncoding	Benign
1	237643315	T	C	T237643315C	RYR2	NM_001035.3(RYR2):c.7222-12T>C	noncoding	Benign/Likely_benign
1	237643338	C	T	C237643338T	RYR2	NM_001035.3(RYR2):c.7233C>T:p.Ala2411=	coding	Benign/Likely_benign
1	237643463	A	G	A237643463G	RYR2	NM_001035.3(RYR2):c.7342+16A>G	noncoding	Benign
1	237648435	C	T	C237648435T	RYR2	NM_001035.3(RYR2):c.7343-9C>T	noncoding	Benign
1	237648466	C	T	C237648466T	RYR2	NM_001035.3(RYR2):c.7365C>T:p.Asp2455=	coding	Benign/Likely_benign
1	237648487	A	G	A237648487G	RYR2	NM_001035.3(RYR2):c.7386A>G:p.Pro2462=	coding	Benign
1	237648523	G	C	G237648523C	RYR2	NM_001035.3(RYR2):c.7422G>C:p.Arg2474Ser	coding	Pathogenic
1	237648589	C	T	C237648589T	RYR2	NM_001035.3(RYR2):c.7488C>T:p.Leu2496=	coding	Benign/Likely_benign
1	237649730	C	T	C237649730T	RYR2	NM_001035.3(RYR2):c.7513-147C>T	noncoding	Benign
1	237649826	A	G	A237649826G	RYR2	NM_001035.3(RYR2):c.7513-51A>G	noncoding	Benign
1	237649972	T	C	T237649972C	RYR2	NM_001035.3(RYR2):c.7608T>C:p.Ala2536=	coding	Benign/Likely_benign
1	237650349	C	A	C237650349A	RYR2	NM_001035.3(RYR2):c.7733+252C>A	noncoding	Benign
1	237651483	C	T	C237651483T	RYR2	NM_001035.3(RYR2):c.7806C>T:p.His2602=	coding	Benign
1	237651521	G	A	G237651521A	RYR2	NM_001035.3(RYR2):c.7824+20G>A	noncoding	Benign
1	237651598	C	A	C237651598A	RYR2	NM_001035.3(RYR2):c.7824+97C>A	noncoding	Benign
1	237654160	T	C	T237654160C	RYR2	NM_001035.3(RYR2):c.7825-114T>C	noncoding	Benign
1	237654484	A	G	A237654484G	RYR2	NM_001035.3(RYR2):c.7965+70A>G	noncoding	Benign
1	237655714	C	G	C237655714G	RYR2	NM_001035.3(RYR2):c.7966-107C>G	noncoding	Benign
1	237656131	C	T	C237656131T	RYR2	NM_001035.3(RYR2):c.8129+147C>T	noncoding	Benign
1	237657809	T	A	T237657809A	RYR2	NM_001035.3(RYR2):c.8130-135T>A	noncoding	Benign
1	237659956	A	C	A237659956C	RYR2	NM_001035.3(RYR2):c.8209-29A>C	noncoding	Benign
1	237659972	G	C	G237659972C	RYR2	NM_001035.3(RYR2):c.8209-13G>C	noncoding	Benign
1	237660245	A	G	A237660245G	RYR2	NM_001035.3(RYR2):c.8298+171A>G	noncoding	Benign
1	237660659	C	T	C237660659T	RYR2	NM_001035.3(RYR2):c.8299-151C>T	noncoding	Benign
1	237660878	T	C	T237660878C	RYR2	NM_001035.3(RYR2):c.8367T>C:p.Ile2789=	coding	Benign/Likely_benign
1	237661032	G	A	G237661032A	RYR2	NM_001035.3(RYR2):c.8436+85G>A	noncoding	Benign
1	237666523	C	T	C237666523T	RYR2	NM_001035.3(RYR2):c.8448C>T:p.Asp2816=	coding	Benign
1	237667595	G	T	G237667595T	RYR2	NM_001035.3(RYR2):c.8515-288G>T	noncoding	Benign
1	237667733	A	G	A237667733G	RYR2	NM_001035.3(RYR2):c.8515-150A>G	noncoding	Benign
1	237667803	C	A	C237667803A	RYR2	NM_001035.3(RYR2):c.8515-80C>A	noncoding	Benign
1	237674088	A	G	A237674088G	RYR2	NM_001035.3(RYR2):c.8591-8A>G	noncoding	Benign
1	237678090	A	G	A237678090G	RYR2	NM_001035.3(RYR2):c.8873A>G:p.Gln2958Arg	coding	Benign/Likely_benign
1	237699136	T	C	T237699136C	RYR2	NM_001035.3(RYR2):c.9128+111T>C	noncoding	Benign
1	237699137	A	G	A237699137G	RYR2	NM_001035.3(RYR2):c.9128+112A>G	noncoding	Benign
1	237699158	A	G	A237699158G	RYR2	NM_001035.3(RYR2):c.9128+133A>G	noncoding	Benign
1	237699287	G	A	G237699287A	RYR2	NM_001035.3(RYR2):c.9128+262G>A	noncoding	Benign
1	237699910	G	T	G237699910T	RYR2	NM_001035.3(RYR2):c.9129-319G>T	noncoding	Benign
1	237700418	T	G	T237700418G	RYR2	NM_001035.3(RYR2):c.9318T>G:p.Ser3106=	coding	Benign
1	237701903	C	T	C237701903T	RYR2	NM_001035.3(RYR2):c.9368-75C>T	noncoding	Benign
1	237702067	T	A	T237702067A	RYR2	NM_001035.3(RYR2):c.9449+8T>A	noncoding	Benign
1	237705282	T	C	T237705282C	RYR2	NM_001035.3(RYR2):c.9519T>C:p.Thr3173=	coding	Benign/Likely_benign
1	237705323	A	G	A237705323G	RYR2	NM_001035.3(RYR2):c.9560A>G:p.Lys3187Arg	coding	Benign/Likely_benign
1	237705352	G	A	G237705352A	RYR2	NM_001035.3(RYR2):c.9580+9G>A	noncoding	Benign/Likely_benign
1	237707034	C	T	C237707034T	RYR2	NM_001035.3(RYR2):c.9666C>T:p.Ala3222=	coding	Benign/Likely_benign
1	237707040	C	T	C237707040T	RYR2	NM_001035.3(RYR2):c.9672C>T:p.Ser3224=	coding	Benign/Likely_benign
1	237707235	G	A	G237707235A	RYR2	NM_001035.3(RYR2):c.9867G>A:p.Gly3289=	coding	Benign/Likely_benign
1	237709492	A	G	A237709492G	RYR2	NM_001035.3(RYR2):c.10155A>G:p.Leu3385=	coding	Benign/Likely_benign
1	237709558	G	A	G237709558A	RYR2	NM_001035.3(RYR2):c.10221G>A:p.Ser3407=	coding	Benign/Likely_benign
1	237709587	T	C	T237709587C	RYR2	NM_001035.3(RYR2):c.10230+20T>C	noncoding	Benign/Likely_benign
1	237711768	C	T	C237711768T	RYR2	NM_001035.3(RYR2):c.10254C>T:p.Asn3418=	coding	Benign/Likely_benign
1	237712117	C	T	C237712117T	RYR2	NM_001035.3(RYR2):c.10323+280C>T	noncoding	Benign
1	237717391	C	T	C237717391T	RYR2	NM_001035.3(RYR2):c.10494+23C>T	noncoding	Benign
1	237718452	T	C	T237718452C	RYR2	NM_001035.3(RYR2):c.10495-10T>C	noncoding	Benign
1	237718470	C	T	C237718470T	RYR2	NM_001035.3(RYR2):c.10503C>T:p.Thr3501=	coding	Benign
1	237722793	A	C	A237722793C	RYR2	NM_001035.3(RYR2):c.10555-335A>C	noncoding	Benign
1	237722846	C	A	C237722846A	RYR2	NM_001035.3(RYR2):c.10555-282C>A	noncoding	Benign
1	237723420	A	C	A237723420C	RYR2	NM_001035.3(RYR2):c.10689+158A>C	noncoding	Benign
1	237723439	C	T	C237723439T	RYR2	NM_001035.3(RYR2):c.10689+177C>T	noncoding	Benign
1	237726791	G	T	G237726791T	RYR2	NM_001035.3(RYR2):c.10726-296G>T	noncoding	Benign
1	237727137	C	T	C237727137T	RYR2	NM_001035.3(RYR2):c.10776C>T:p.Ser3592=	coding	Benign
1	237730374	C	T	C237730374T	RYR2	NM_001035.3(RYR2):c.10935+18C>T	noncoding	Benign
1	237733436	G	A	G237733436A	RYR2	NM_001035.3(RYR2):c.11040-269G>A	noncoding	Benign
1	237742042	G	A	G237742042A	RYR2	NM_001035.3(RYR2):c.11092-254G>A	noncoding	Benign
1	237742271	T	C	T237742271C	RYR2	NM_001035.3(RYR2):c.11092-25T>C	noncoding	Benign
1	237742286	A	T	A237742286T	RYR2	NM_001035.3(RYR2):c.11092-10A>T	noncoding	Benign/Likely_benign
1	237756084	A	G	A237756084G	RYR2	NM_001035.3(RYR2):c.11146-204A>G	noncoding	Benign
1	237756118	A	C	A237756118C	RYR2	NM_001035.3(RYR2):c.11146-170A>C	noncoding	Benign
1	237759753	C	T	C237759753T	RYR2	NM_001035.3(RYR2):c.11326-23C>T	noncoding	Benign
1	237760689	G	A	G237760689A	RYR2	NM_001035.3(RYR2):c.11403-266G>A	noncoding	Benign
1	237760744	T	C	T237760744C	RYR2	NM_001035.3(RYR2):c.11403-211T>C	noncoding	Benign
1	237760812	C	A	C237760812A	RYR2	NM_001035.3(RYR2):c.11403-143C>A	noncoding	Benign
1	237761038	A	C	A237761038C	RYR2	NM_001035.3(RYR2):c.11476+10A>C	noncoding	Benign/Likely_benign
1	237761043	C	T	C237761043T	RYR2	NM_001035.3(RYR2):c.11476+15C>T	noncoding	Benign/Likely_benign
1	237770603	G	A	G237770603A	RYR2	NM_001035.3(RYR2):c.11477-204G>A	noncoding	Benign
1	237770826	C	T	C237770826T	RYR2	NM_001035.3(RYR2):c.11496C>T:p.Asp3832=	coding	Benign/Likely_benign
1	237770906	C	T	C237770906T	RYR2	NM_001035.3(RYR2):c.11557+19C>T	noncoding	Benign
1	237772088	A	G	A237772088G	RYR2	NM_001035.3(RYR2):c.11634A>G:p.Leu3878=	coding	Benign/Likely_benign
1	237778481	T	G	T237778481G	RYR2	NM_001035.3(RYR2):c.11776-185T>G	noncoding	Benign
1	237778701	C	T	C237778701T	RYR2	NM_001035.3(RYR2):c.11811C>T:p.His3937=	coding	Benign/Likely_benign
1	237778725	C	T	C237778725T	RYR2	NM_001035.3(RYR2):c.11835C>T:p.Val3945=	coding	Benign/Likely_benign
1	237778726	G	A	G237778726A	RYR2	NM_001035.3(RYR2):c.11836G>A:p.Gly3946Ser	coding	Pathogenic
1	237778727	G	A	G237778727A	RYR2	NM_001035.3(RYR2):c.11837G>A:p.Gly3946Asp	coding	Pathogenic
1	237778786	G	A	G237778786A	RYR2	NM_001035.3(RYR2):c.11880+16G>A	noncoding	Benign
1	237781618	G	A	G237781618A	RYR2	NM_001035.3(RYR2):c.11934G>A:p.Met3978Ile	coding	Pathogenic/Likely_pathogenic
1	237783664	T	C	T237783664C	RYR2	NM_001035.3(RYR2):c.11963-11T>C	noncoding	Benign
1	237783677	A	C	A237783677C	RYR2	NM_001035.3(RYR2):c.11965A>C:p.Asn3989His	coding	Pathogenic
1	237783677	A	G	A237783677G	RYR2	NM_001035.3(RYR2):c.11965A>G:p.Asn3989Asp	coding	Pathogenic
1	237783700	C	T	C237783700T	RYR2	NM_001035.3(RYR2):c.11988C>T:p.Gly3996=	coding	Benign/Likely_benign
1	237783707	A	T	A237783707T	RYR2	NM_001035.3(RYR2):c.11995A>T:p.Met3999Leu	coding	Pathogenic
1	237784024	C	G	C237784024G	RYR2	NM_001035.3(RYR2):c.12312C>G:p.Asn4104Lys	coding	Pathogenic
1	237784084	C	A	C237784084A	RYR2	NM_001035.3(RYR2):c.12372C>A:p.Ser4124Arg	coding	Pathogenic
1	237784245	A	G	A237784245G	RYR2	NM_001035.3(RYR2):c.12533A>G:p.Asn4178Ser	coding	Pathogenic/Likely_pathogenic
1	237784314	A	G	A237784314G	RYR2	NM_001035.3(RYR2):c.12602A>G:p.Gln4201Arg	coding	Pathogenic
1	237784321	G	T	G237784321T	RYR2	NM_001035.3(RYR2):c.12609G>T:p.Ala4203=	coding	Benign/Likely_benign
1	237784360	G	A	G237784360A	RYR2	NM_001035.3(RYR2):c.12648G>A:p.Ala4216=	coding	Benign/Likely_benign
1	237784375	C	T	C237784375T	RYR2	NM_001035.3(RYR2):c.12663C>T:p.Ser4221=	coding	Benign/Likely_benign
1	237784381	G	A	G237784381A	RYR2	NM_001035.3(RYR2):c.12669G>A:p.Lys4223=	coding	Benign
1	237784986	A	G	A237784986G	RYR2	NM_001035.3(RYR2):c.13260+14A>G	noncoding	Benign/Likely_benign
1	237785751	G	C	G237785751C	RYR2	NM_001035.3(RYR2):c.13261-218G>C	noncoding	Benign
1	237786001	A	G	A237786001G	RYR2	NM_001035.3(RYR2):c.13293A>G:p.Glu4431=	coding	Benign/Likely_benign
1	237786156	T	C	T237786156C	RYR2	NM_001035.3(RYR2):c.13328+120T>C	noncoding	Benign
1	237787926	A	G	A237787926G	RYR2	NM_001035.3(RYR2):c.13329-62A>G	noncoding	Benign
1	237788151	A	G	A237788151G	RYR2	NM_001035.3(RYR2):c.13476+16A>G	noncoding	Benign
1	237788182	G	A	G237788182A	RYR2	NM_001035.3(RYR2):c.13476+47G>A	noncoding	Benign
1	237791245	G	C	G237791245C	RYR2	NM_001035.3(RYR2):c.13477-184G>C	noncoding	Benign
1	237791441	C	T	C237791441T	RYR2	NM_001035.3(RYR2):c.13489C>T:p.Arg4497Cys	coding	Pathogenic/Likely_pathogenic
1	237792064	A	G	A237792064G	RYR2	NM_001035.3(RYR2):c.13564-41A>G	noncoding	Benign
1	237792107	C	T	C237792107T	RYR2	NM_001035.3(RYR2):c.13566C>T:p.Val4522=	coding	Benign
1	237792197	T	C	T237792197C	RYR2	NM_001035.3(RYR2):c.13656T>C:p.His4552=	coding	Benign/Likely_benign
1	237792281	G	A	G237792281A	RYR2	NM_001035.3(RYR2):c.13740G>A:p.Thr4580=	coding	Benign/Likely_benign
1	237792343	A	G	A237792343G	RYR2	NM_001035.3(RYR2):c.13782+20A>G	noncoding	Benign
1	237792584	G	A	G237792584A	RYR2	NM_001035.3(RYR2):c.13782+261G>A	noncoding	Benign
1	237793846	G	A	G237793846A	RYR2	NM_001035.3(RYR2):c.13783-21G>A	noncoding	Benign
1	237793861	A	G	A237793861G	RYR2	NM_001035.3(RYR2):c.13783-6A>G	noncoding	Benign
1	237794009	A	C	A237794009C	RYR2	NM_001035.3(RYR2):c.13913+12A>C	noncoding	Benign
1	237795167	A	C	A237795167C	RYR2	NM_001035.3(RYR2):c.13914-122A>C	noncoding	Benign
1	237798037	G	T	G237798037T	RYR2	NM_001035.3(RYR2):c.13957G>T:p.Val4653Phe	coding	Pathogenic/Likely_pathogenic
1	237798054	A	G	A237798054G	RYR2	NM_001035.3(RYR2):c.13974A>G:p.Gly4658=	coding	Benign/Likely_benign
1	237798057	G	A	G237798057A	RYR2	NM_001035.3(RYR2):c.13977G>A:p.Glu4659=	coding	Benign/Likely_benign
1	237798063	C	T	C237798063T	RYR2	NM_001035.3(RYR2):c.13983C>T:p.Tyr4661=	coding	Benign/Likely_benign
1	237798109	C	T	C237798109T	RYR2	NM_001035.3(RYR2):c.14029C>T:p.Leu4677=	coding	Benign/Likely_benign
1	237798184	C	T	C237798184T	RYR2	NM_001035.3(RYR2):c.14090+14C>T	noncoding	Benign
1	237798387	T	C	T237798387C	RYR2	NM_001035.3(RYR2):c.14090+217T>C	noncoding	Benign
1	237798440	T	C	T237798440C	RYR2	NM_001035.3(RYR2):c.14090+270T>C	noncoding	Benign
1	237798441	G	A	G237798441A	RYR2	NM_001035.3(RYR2):c.14090+271G>A	noncoding	Benign
1	237798489	T	C	T237798489C	RYR2	NM_001035.3(RYR2):c.14090+319T>C	noncoding	Benign
1	237801634	A	G	A237801634G	RYR2	NM_001035.3(RYR2):c.14091-222A>G	noncoding	Benign
1	237801735	C	A	C237801735A	RYR2	NM_001035.3(RYR2):c.14091-121C>A	noncoding	Benign
1	237801743	A	G	A237801743G	RYR2	NM_001035.3(RYR2):c.14091-113A>G	noncoding	Benign
1	237801794	G	T	G237801794T	RYR2	NM_001035.3(RYR2):c.14091-62G>T	noncoding	Benign
1	237801831	G	A	G237801831A	RYR2	NM_001035.3(RYR2):c.14091-25G>A	noncoding	Benign
1	237802117	G	T	G237802117T	RYR2	NM_001035.3(RYR2):c.14151+201G>T	noncoding	Benign
1	237806120	C	G	C237806120G	RYR2	NM_001035.3(RYR2):c.14152-17C>G	noncoding	Benign
1	237806236	A	C	A237806236C	RYR2	NM_001035.3(RYR2):c.14251A>C:p.Lys4751Gln	coding	Pathogenic/Likely_pathogenic
1	237806442	A	T	A237806442T	RYR2	NM_001035.3(RYR2):c.14298+159A>T	noncoding	Benign
1	237808889	A	G	A237808889G	RYR2	NM_001035.3(RYR2):c.14299-12A>G	noncoding	Benign/Likely_benign
1	237808913	G	A	G237808913A	RYR2	NM_001035.3(RYR2):c.14311G>A:p.Val4771Ile	coding	Pathogenic
1	237809023	C	T	C237809023T	RYR2	NM_001035.3(RYR2):c.14421C>T:p.Asp4807=	coding	Benign
1	237819083	C	A	C237819083A	RYR2	NM_001035.3(RYR2):c.14481C>A:p.Ile4827=	coding	Benign/Likely_benign
1	237819083	C	T	C237819083T	RYR2	NM_001035.3(RYR2):c.14481C>T:p.Ile4827=	coding	Benign/Likely_benign
1	237819181	C	G	C237819181G	RYR2	NM_001035.3(RYR2):c.14579C>G:p.Ala4860Gly	coding	Pathogenic
1	237819188	A	G	A237819188G	RYR2	NM_001035.3(RYR2):c.14586A>G:p.Ile4862Met	coding	Pathogenic
1	237819192	G	T	G237819192T	RYR2	NM_001035.3(RYR2):c.14590G>T:p.Gly4864Cys	coding	Pathogenic
1	237819363	G	A	G237819363A	RYR2	NM_001035.3(RYR2):c.14590+171G>A	noncoding	Benign
1	237819475	C	T	C237819475T	RYR2	NM_001035.3(RYR2):c.14590+283C>T	noncoding	Benign
1	237828467	T	C	T237828467C	RYR2	NM_001035.3(RYR2):c.14655+22T>C	noncoding	Benign
1	237828575	G	A	G237828575A	RYR2	NM_001035.3(RYR2):c.14655+130G>A	noncoding	Benign
1	237830578	C	T	C237830578T	RYR2	NM_001035.3(RYR2):c.14704C>T:p.Pro4902Ser	coding	Pathogenic
1	237830642	C	T	C237830642T	RYR2	NM_001035.3(RYR2):c.14756+12C>T	noncoding	Benign/Likely_benign
1	237831495	A	G	A237831495G	RYR2	NM_001035.3(RYR2):c.14757-19A>G	noncoding	Benign
1	237831568	A	G	A237831568G	RYR2	NM_001035.3(RYR2):c.14808+3A>G	noncoding	Benign/Likely_benign
1	237831582	A	C	A237831582C	RYR2	NM_001035.3(RYR2):c.14808+17A>C	noncoding	Benign
1	237831657	G	A	G237831657A	RYR2	NM_001035.3(RYR2):c.14808+92G>A	noncoding	Benign
1	237831790	C	A	C237831790A	RYR2	NM_001035.3(RYR2):c.14808+225C>A	noncoding	Benign
1	237832371	A	G	A237832371G	RYR2	NM_001035.3(RYR2):c.14809-181A>G	noncoding	Benign
1	237832532	C	T	C237832532T	RYR2	NM_001035.3(RYR2):c.14809-20C>T	noncoding	Benign
1	237832537	C	G	C237832537G	RYR2	NM_001035.3(RYR2):c.14809-15C>G	noncoding	Benign/Likely_benign
1	237832607	G	A	G237832607A	RYR2	NM_001035.3(RYR2):c.14864G>A:p.Gly4955Glu	coding	Pathogenic/Likely_pathogenic
1	237832619	G	A	G237832619A	RYR2	NM_001035.3(RYR2):c.14876G>A:p.Arg4959Gln	coding	Pathogenic/Likely_pathogenic
1	237832702	T	C	T237832702C	RYR2	NM_001035.3(RYR2):c.*55T>C	noncoding	Benign/Likely_benign
1	237832703	C	A	C237832703A	RYR2	NM_001035.3(RYR2):c.*56C>A	noncoding	Benign
1	237832776	C	G	C237832776G	RYR2	NM_001035.3(RYR2):c.*129C>G	noncoding	Benign
1	237832777	G	A	G237832777A	RYR2	NM_001035.3(RYR2):c.*130G>A	noncoding	Benign/Likely_benign
1	237832865	T	G	T237832865G	RYR2	NM_001035.3(RYR2):c.*218T>G	noncoding	Benign/Likely_benign
1	237832975	C	T	C237832975T	RYR2	NM_001035.3(RYR2):c.*328C>T	noncoding	Benign
1	237833294	C	T	C237833294T	RYR2	NM_001035.3(RYR2):c.*647C>T	noncoding	Benign/Likely_benign
1	237833361	C	G	C237833361G	RYR2	NM_001035.3(RYR2):c.*714C>G	noncoding	Benign
1	237833434	C	A	C237833434A	RYR2	NM_001035.3(RYR2):c.*787C>A	noncoding	Benign/Likely_benign
1	237833627	T	C	T237833627C	RYR2	NM_001035.3(RYR2):c.*980T>C	noncoding	Benign/Likely_benign
1	237833787	A	G	A237833787G	RYR2	NM_001035.3(RYR2):c.*1140A>G	noncoding	Benign
1	237833954	C	T	C237833954T	RYR2	NM_001035.3(RYR2):c.*1307C>T	noncoding	Benign
1	237882534	G	A	G237882534A	ZP4	NM_021186.4(ZP4):c.1511C>T:p.Ser504Leu	coding	Benign
1	237882756	G	A	G237882756A	ZP4	NM_021186.4(ZP4):c.1481C>T:p.Pro494Leu	coding	Benign
1	237885843	G	A	G237885843A	ZP4	NM_021186.4(ZP4):c.883C>T:p.Pro295Ser	coding	Benign
1	237889926	G	A	G237889926A	ZP4	NM_021186.4(ZP4):c.341C>T:p.Ala114Val	coding	Benign
1	239907803	G	A	G239907803A	CHRM3	NM_001375978.1(CHRM3):c.352G>A:p.Gly118Arg	coding	Pathogenic
1	239908743	T	C	T239908743C	CHRM3	NM_001375978.1(CHRM3):c.1292T>C:p.Leu431Pro	coding	Benign
1	240092472	C	T	C240092472T	FMN2	NM_020066.5(FMN2):c.363C>T:p.Leu121=	coding	Benign
1	240092535	C	T	C240092535T	FMN2	NM_020066.5(FMN2):c.426C>T:p.Thr142=	coding	Benign
1	240092640	G	A	G240092640A	FMN2	NM_020066.5(FMN2):c.531G>A:p.Ser177=	coding	Benign/Likely_benign
1	240092805	T	C	T240092805C	FMN2	NM_020066.5(FMN2):c.696T>C:p.Pro232=	coding	Benign
1	240092887	G	A	G240092887A	FMN2	NM_020066.5(FMN2):c.778G>A:p.Ala260Thr	coding	Benign
1	240093002	G	A	G240093002A	FMN2	NM_020066.5(FMN2):c.893G>A:p.Gly298Asp	coding	Benign/Likely_benign
1	240093461	T	A	T240093461A	FMN2	NM_020066.5(FMN2):c.1352T>A:p.Leu451Gln	coding	Benign/Likely_benign
1	240123353	G	A	G240123353A	FMN2	NM_020066.5(FMN2):c.1782+8G>A	noncoding	Benign
1	240188238	A	G	A240188238G	FMN2	NM_020066.5(FMN2):c.1962A>G:p.Gln654=	coding	Benign
1	240207652	C	T	C240207652T	FMN2	NM_020066.5(FMN2):c.2840C>T:p.Pro947Leu	coding	Benign
1	240208254	A	G	A240208254G	FMN2	NM_020066.5(FMN2):c.3442A>G:p.Arg1148Gly	coding	Benign
1	240472447	T	G	T240472447G	FMN2	NM_020066.5(FMN2):c.5136T>G:p.Ser1712=	coding	Benign/Likely_benign
1	240493068	C	A	C240493068A	GREM2	NM_022469.4(GREM2):c.408G>T:p.Glu136Asp	coding	Pathogenic
1	240493438	G	A	G240493438A	GREM2	NM_022469.4(GREM2):c.38C>T:p.Ala13Val	coding	Pathogenic
1	240509503	T	G	T240509503G	GREM2	NM_022469.4(GREM2):c.-1-16027A>C	noncoding	Benign
1	240776211	C	G	C240776211G	RGS7	NM_001364886.1(RGS7):c.*9G>C	coding	Benign
1	240827155	T	C	T240827155C	RGS7	NM_001364886.1(RGS7):c.627A>G:p.Thr209=	coding	Benign
1	240868599	C	T	C240868599T	RGS7	NM_001364886.1(RGS7):c.597G>A:p.Val199=	coding	Benign
1	241497861	C	T	C241497861T	FH	NM_000143.3(FH):c.1500G>A:p.Trp500Ter	coding	Pathogenic/Likely_pathogenic
1	241497916	A	C	A241497916C	FH	NM_000143.3(FH):c.1445T>G:p.Leu482Ter	coding	Pathogenic/Likely_pathogenic
1	241497922	G	C	G241497922C	FH	NM_000143.3(FH):c.1439C>G:p.Ser480Ter	coding	Pathogenic
1	241497926	C	A	C241497926A	FH	NM_000143.3(FH):c.1435G>T:p.Gly479Ter	coding	Pathogenic
1	241497971	C	G	C241497971G	FH	NM_000143.3(FH):c.1391-1G>C	coding	Pathogenic
1	241497971	C	T	C241497971T	FH	NM_000143.3(FH):c.1391-1G>A	coding	Pathogenic
1	241497972	T	A	T241497972A	FH	NM_000143.3(FH):c.1391-2A>T	noncoding	Pathogenic
1	241497972	T	C	T241497972C	FH	NM_000143.4(FH):c.1391-2A>G	noncoding	Pathogenic
1	241500436	C	A	C241500436A	FH	NM_000143.4(FH):c.1390+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	241500476	C	A	C241500476A	FH	NM_000143.3(FH):c.1351G>T:p.Glu451Ter	coding	Pathogenic
1	241500488	T	A	T241500488A	FH	NM_000143.3(FH):c.1339A>T:p.Lys447Ter	coding	Pathogenic
1	241500500	C	A	C241500500A	FH	NM_000143.3(FH):c.1327G>T:p.Glu443Ter	coding	Pathogenic
1	241500525	G	A	G241500525A	FH	NM_000143.3(FH):c.1302C>T:p.Cys434=	coding	Benign
1	241500528	G	A	G241500528A	FH	NM_000143.4(FH):c.1299C>T:p.Asn433=	coding	Benign/Likely_benign
1	241500572	A	G	A241500572G	FH	NM_000143.3(FH):c.1255T>C:p.Ser419Pro	coding	Pathogenic/Likely_pathogenic
1	241500587	T	A	T241500587A	FH	NM_000143.4(FH):c.1240A>T:p.Lys414Ter	coding	Pathogenic
1	241500608	A	T	A241500608T	FH	NM_000143.3(FH):c.1237-18T>A	noncoding	Benign
1	241502429	G	A	G241502429A	FH	NM_000143.3(FH):c.1236+14C>T	noncoding	Benign/Likely_benign
1	241502442	C	G	C241502442G	FH	NM_000143.3(FH):c.1236+1G>C	noncoding	Pathogenic/Likely_pathogenic
1	241502442	C	T	C241502442T	FH	NM_000143.3(FH):c.1236+1G>A	noncoding	Pathogenic
1	241502469	C	A	C241502469A	FH	NM_000143.3(FH):c.1210G>T:p.Glu404Ter	coding	Pathogenic
1	241502490	C	T	C241502490T	FH	NM_000143.3(FH):c.1189G>A:p.Gly397Arg	coding	Pathogenic
1	241502552	T	G	T241502552G	FH	NM_000143.3(FH):c.1127A>C:p.Gln376Pro	coding	Pathogenic/Likely_pathogenic
1	241502553	G	A	G241502553A	FH	NM_000143.3(FH):c.1126C>T:p.Gln376Ter	coding	Pathogenic
1	241504041	C	A	C241504041A	FH	NM_000143.3(FH):c.1108+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	241504041	C	T	C241504041T	FH	NM_000143.4(FH):c.1108+1G>A	noncoding	Pathogenic
1	241504053	C	T	C241504053T	FH	NM_000143.3(FH):c.1097G>A:p.Ser366Asn	coding	Pathogenic/Likely_pathogenic
1	241504057	T	C	T241504057C	FH	NM_000143.3(FH):c.1093A>G:p.Ser365Gly	coding	Pathogenic/Likely_pathogenic
1	241504066	C	G	C241504066G	FH	NM_000143.3(FH):c.1084G>C:p.Glu362Gln	coding	Pathogenic
1	241504073	A	T	A241504073T	FH	NM_000143.3(FH):c.1077T>A:p.Pro359=	coding	Benign/Likely_benign
1	241504083	A	T	A241504083T	FH	NM_000143.3(FH):c.1067T>A:p.Leu356Ter	coding	Pathogenic/Likely_pathogenic
1	241504087	C	A	C241504087A	FH	NM_000143.3(FH):c.1063G>T:p.Glu355Ter	coding	Pathogenic
1	241504098	G	C	G241504098C	FH	NM_000143.3(FH):c.1052C>G:p.Ser351Ter	coding	Pathogenic
1	241504098	G	T	G241504098T	FH	NM_000143.3(FH):c.1052C>A:p.Ser351Ter	coding	Pathogenic
1	241504123	G	A	G241504123A	FH	NM_000143.3(FH):c.1027C>T:p.Arg343Ter	coding	Pathogenic
1	241504130	A	T	A241504130T	FH	NM_000143.3(FH):c.1020T>A:p.Asn340Lys	coding	Pathogenic/Likely_pathogenic
1	241504151	G	T	G241504151T	FH	NM_000143.3(FH):c.999C>A:p.Cys333Ter	coding	Pathogenic
1	241504198	G	A	G241504198A	FH	NM_000143.3(FH):c.952C>T:p.His318Tyr	coding	Pathogenic/Likely_pathogenic
1	241504213	C	A	C241504213A	FH	NM_000143.3(FH):c.937G>T:p.Glu313Ter	coding	Pathogenic
1	241504223	C	T	C241504223T	FH	NM_000143.3(FH):c.927G>A:p.Pro309=	coding	Benign
1	241504246	C	T	C241504246T	FH	NM_000143.3(FH):c.905-1G>A	coding	Pathogenic
1	241506114	C	T	C241506114T	FH	NM_000143.3(FH):c.793G>A:p.Ala265Thr	coding	Pathogenic
1	241506147	G	A	G241506147A	FH	NM_000143.3(FH):c.760C>T:p.Gln254Ter	coding	Pathogenic
1	241506150	G	A	G241506150A	FH	NM_000143.3(FH):c.757C>T:p.Gln253Ter	coding	Pathogenic
1	241506168	C	A	C241506168A	FH	NM_000143.3(FH):c.739G>T:p.Glu247Ter	coding	Pathogenic
1	241506178	A	G	A241506178G	FH	NM_000143.3(FH):c.739-10T>C	noncoding	Benign/Likely_benign
1	241508338	C	T	C241508338T	FH	NM_000143.3(FH):c.738+265G>A	noncoding	Benign
1	241508601	A	G	A241508601G	FH	NM_000143.3(FH):c.738+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	241508602	C	T	C241508602T	FH	NM_000143.4(FH):c.738+1G>A	noncoding	Pathogenic
1	241508605	G	A	G241508605A	FH	NM_000143.3(FH):c.736C>T:p.Gln246Ter	coding	Pathogenic
1	241508639	A	C	A241508639C	FH	NM_000143.3(FH):c.702T>G:p.Thr234=	coding	Benign/Likely_benign
1	241508641	T	C	T241508641C	FH	NM_000143.3(FH):c.700A>G:p.Thr234Ala	coding	Pathogenic/Likely_pathogenic
1	241508643	C	A	C241508643A	FH	NM_000143.3(FH):c.698G>T:p.Arg233Leu	coding	Pathogenic/Likely_pathogenic
1	241508643	C	T	C241508643T	FH	NM_000143.3(FH):c.698G>A:p.Arg233His	coding	Pathogenic
1	241508644	G	A	G241508644A	FH	NM_000143.3(FH):c.697C>T:p.Arg233Cys	coding	Pathogenic
1	241508652	T	C	T241508652C	FH	NM_000143.3(FH):c.689A>G:p.Lys230Arg	coding	Pathogenic/Likely_pathogenic
1	241508662	G	A	G241508662A	FH	NM_000143.3(FH):c.679C>T:p.Gln227Ter	coding	Pathogenic
1	241508707	G	A	G241508707A	FH	NM_000143.3(FH):c.634C>T:p.Gln212Ter	coding	Pathogenic
1	241508757	A	G	A241508757G	FH	NM_000143.3(FH):c.584T>C:p.Met195Thr	coding	Pathogenic/Likely_pathogenic
1	241508758	T	C	T241508758C	FH	NM_000143.3(FH):c.583A>G:p.Met195Val	coding	Pathogenic
1	241508781	G	C	G241508781C	FH	NM_000143.3(FH):c.560C>G:p.Ser187Ter	coding	Pathogenic
1	241508781	G	T	G241508781T	FH	NM_000143.3(FH):c.560C>A:p.Ser187Ter	coding	Pathogenic
1	241508786	C	G	C241508786G	FH	NM_000143.3(FH):c.556-1G>C	coding	Pathogenic
1	241508787	T	A	T241508787A	FH	NM_000143.3(FH):c.556-2A>T	noncoding	Pathogenic/Likely_pathogenic
1	241512044	T	C	T241512044C	FH	NM_000143.3(FH):c.478A>G:p.Arg160Gly	coding	Pathogenic/Likely_pathogenic
1	241512080	G	A	G241512080A	FH	NM_000143.3(FH):c.442C>T:p.Gln148Ter	coding	Pathogenic
1	241512083	T	C	T241512083C	FH	NM_000143.3(FH):c.439A>G:p.Thr147Ala	coding	Pathogenic
1	241512088	G	C	G241512088C	FH	NM_000143.4(FH):c.434C>G:p.Ser145Ter	coding	Pathogenic
1	241512098	G	A	G241512098A	FH	NM_000143.3(FH):c.424C>T:p.Gln142Ter	coding	Pathogenic
1	241512144	C	T	C241512144T	FH	NM_000143.3(FH):c.379-1G>A	coding	Pathogenic
1	241512145	T	C	T241512145C	FH	NM_000143.3(FH):c.379-2A>G	noncoding	Pathogenic
1	241513605	C	A	C241513605A	FH	NM_000143.4(FH):c.376G>T:p.Glu126Ter	coding	Pathogenic
1	241513632	C	G	C241513632G	FH	NM_000143.3(FH):c.349G>C:p.Ala117Pro	coding	Pathogenic/Likely_pathogenic
1	241513659	G	A	G241513659A	FH	NM_000143.3(FH):c.322C>T:p.Gln108Ter	coding	Pathogenic/Likely_pathogenic
1	241513661	T	G	T241513661G	FH	NM_000143.3(FH):c.320A>C:p.Asn107Thr	coding	Pathogenic/Likely_pathogenic
1	241513672	G	A	G241513672A	FH	NM_000143.3(FH):c.309C>T:p.Ala103=	coding	Benign
1	241513680	G	A	G241513680A	FH	NM_000143.3(FH):c.301C>T:p.Arg101Ter	coding	Pathogenic
1	241513715	T	C	T241513715C	FH	NM_000143.3(FH):c.268-2A>G	noncoding	Pathogenic
1	241517181	C	G	C241517181G	FH	NM_000143.3(FH):c.267+1G>C	noncoding	Pathogenic
1	241517181	C	T	C241517181T	FH	NM_000143.3(FH):c.267+1G>A	noncoding	Pathogenic
1	241517245	A	T	A241517245T	FH	NM_000143.3(FH):c.204T>A:p.Tyr68Ter	coding	Pathogenic
1	241517248	A	C	A241517248C	FH	NM_000143.3(FH):c.201T>G:p.Tyr67Ter	coding	Pathogenic
1	241517248	A	T	A241517248T	FH	NM_000143.4(FH):c.201T>A:p.Tyr67Ter	coding	Pathogenic
1	241517274	C	A	C241517274A	FH	NM_000143.3(FH):c.175G>T:p.Glu59Ter	coding	Pathogenic
1	241517292	C	A	C241517292A	FH	NM_000143.3(FH):c.157G>T:p.Glu53Ter	coding	Pathogenic
1	241517310	G	A	G241517310A	FH	NM_000143.3(FH):c.139C>T:p.Gln47Ter	coding	Pathogenic
1	241517317	C	T	C241517317T	FH	NM_000143.3(FH):c.133-1G>A	coding	Pathogenic
1	241519591	C	T	C241519591T	FH	NM_000143.3(FH):c.132G>A:p.Met44Ile	coding	Pathogenic
1	241519596	G	A	G241519596A	FH	NM_000143.3(FH):c.127C>T:p.Arg43Ter	coding	Pathogenic
1	241519618	C	T	C241519618T	FH	NM_000143.3(FH):c.105G>A:p.Ser35=	coding	Benign/Likely_benign
1	241519646	G	A	G241519646A	FH	NM_000143.3(FH):c.77C>T:p.Pro26Leu	coding	Benign/Likely_benign
1	241519658	A	T	A241519658T	FH	NM_000143.3(FH):c.65T>A:p.Leu22Ter	coding	Pathogenic
1	241519670	G	A	G241519670A	FH	NM_000143.3(FH):c.53C>T:p.Pro18Leu	coding	Benign/Likely_benign
1	241519716	G	A	G241519716A	FH	NM_000143.3(FH):c.7C>T:p.Arg3Ter	coding	Pathogenic
1	241519717	G	A	G241519717A	FH	NM_000143.3(FH):c.6C>T:p.Tyr2=	coding	Benign/Likely_benign
1	241562315	C	T	C241562315T	KMO	NM_003679.5(KMO):c.598C>T:p.Pro200Ser	coding	Benign
1	241566589	G	A	G241566589A	KMO	NM_003679.5(KMO):c.786G>A:p.Pro262=	coding	Benign
1	241568656	T	A	T241568656A	KMO	NM_003679.5(KMO):c.957+9T>A	noncoding	Benign
1	241640015	C	G	C241640015G	OPN3	NM_014322.3(OPN3):c.240G>C:p.Leu80=	coding	Benign
1	241850524	C	T	C241850524T	EXO1	NM_130398.4(EXO1):c.99C>T:p.Cys33=	coding	Benign
1	241852289	T	C	T241852289C	EXO1	NM_130398.4(EXO1):c.162-3T>C	noncoding	Benign
1	241852356	G	A	G241852356A	EXO1	NM_130398.4(EXO1):c.226G>A:p.Val76Ile	coding	Benign
1	241852407	A	G	A241852407G	EXO1	NM_130398.4(EXO1):c.277A>G:p.Arg93Gly	coding	Benign
1	241860656	A	G	A241860656G	EXO1	NM_130398.4(EXO1):c.896A>G:p.Asn299Ser	coding	Benign
1	241885378	G	A	G241885378A	EXO1	NM_130398.4(EXO1):c.2276G>A:p.Gly759Glu	coding	Benign/Likely_benign
1	241958075	T	G	T241958075G	BECN2	NM_001290693.1(BECN2):c.309T>G:p.Ile103Met	coding	Benign
1	241958238	G	A	G241958238A	BECN2	NM_001290693.1(BECN2):c.472G>A:p.Glu158Lys	coding	Benign
1	241958494	G	T	G241958494T	BECN2	NM_001290693.1(BECN2):c.728G>T:p.Arg243Met	coding	Benign
1	243136134	T	A	T243136134A	CEP170	NM_014812.3(CEP170):c.4319+9A>T	noncoding	Benign
1	243156259	G	A	G243156259A	CEP170	NM_014812.3(CEP170):c.3873C>T:p.Tyr1291=	coding	Benign
1	243156309	T	C	T243156309C	CEP170	NM_014812.3(CEP170):c.3823A>G:p.Met1275Val	coding	Benign
1	243256127	T	A	T243256127A	SDCCAG8	NM_006642.5(SDCCAG8):c.-47T>A	noncoding	Benign
1	243270976	A	G	A243270976G	SDCCAG8	NM_006642.5(SDCCAG8):c.221-2A>G	noncoding	Pathogenic
1	243271036	G	A	G243271036A	SDCCAG8	NM_006642.5(SDCCAG8):c.279G>A:p.Pro93=	coding	Benign/Likely_benign
1	243286332	C	T	C243286332T	SDCCAG8	NM_006642.5(SDCCAG8):c.481C>T:p.Gln161Ter	coding	Pathogenic
1	243293111	G	A	G243293111A	SDCCAG8	NM_006642.5(SDCCAG8):c.567G>A:p.Trp189Ter	coding	Pathogenic
1	243304716	A	T	A243304716T	SDCCAG8	NM_006642.5(SDCCAG8):c.679A>T:p.Lys227Ter	coding	Pathogenic
1	243304733	T	G	T243304733G	SDCCAG8	NM_006642.5(SDCCAG8):c.696T>G:p.Tyr232Ter	coding	Pathogenic
1	243307837	G	A	G243307837A	SDCCAG8	NM_006642.5(SDCCAG8):c.741-152G>A	noncoding	Pathogenic
1	243308046	T	C	T243308046C	SDCCAG8	NM_006642.5(SDCCAG8):c.798T>C:p.His266=	coding	Benign
1	243308160	C	T	C243308160T	SDCCAG8	NM_006642.5(SDCCAG8):c.912C>T:p.Thr304=	coding	Benign
1	243316734	A	G	A243316734G	SDCCAG8	NM_006642.5(SDCCAG8):c.930-21A>G	noncoding	Benign
1	243316811	C	T	C243316811T	SDCCAG8	NM_006642.5(SDCCAG8):c.986C>T:p.Thr329Met	coding	Benign/Likely_benign
1	243330565	G	C	G243330565C	SDCCAG8	NM_006642.5(SDCCAG8):c.1094G>C:p.Arg365Thr	coding	Benign/Likely_benign
1	243330605	A	T	A243330605T	SDCCAG8	NM_006642.5(SDCCAG8):c.1134A>T:p.Glu378Asp	coding	Benign
1	243415799	C	T	C243415799T	SDCCAG8	NM_006642.5(SDCCAG8):c.1714C>T:p.Gln572Ter	coding	Pathogenic
1	243415810	G	A	G243415810A	SDCCAG8	NM_006642.5(SDCCAG8):c.1725G>A:p.Glu575=	coding	Benign
1	243417984	G	A	G243417984A	SDCCAG8	NM_006642.5(SDCCAG8):c.1761G>A:p.Leu587=	coding	Benign
1	243417986	T	A	T243417986A	SDCCAG8	NM_006642.5(SDCCAG8):c.1763T>A:p.Leu588Ter	coding	Pathogenic
1	243505273	G	C	G243505273C	AKT3	NM_005465.7(AKT3):c.1416C>G:p.Ser472=	coding	Benign
1	243505296	G	A	G243505296A	AKT3	NM_005465.7(AKT3):c.1393C>T:p.Arg465Trp	coding	Pathogenic/Likely_pathogenic
1	243505330	A	G	A243505330G	AKT3	NM_005465.7(AKT3):c.1359T>C:p.Asp453=	coding	Benign
1	243552848	G	A	G243552848A	AKT3	NM_005465.7(AKT3):c.1044C>T:p.Asn348=	coding	Benign
1	243552928	C	T	C243552928T	AKT3	NM_005465.7(AKT3):c.964G>A:p.Asp322Asn	coding	Pathogenic
1	243572942	A	G	A243572942G	AKT3	NM_005465.7(AKT3):c.803T>C:p.Val268Ala	coding	Pathogenic
1	243572953	G	A	G243572953A	AKT3	NM_005465.7(AKT3):c.792C>T:p.Ser264=	coding	Benign
1	243613524	C	T	C243613524T	AKT3	NM_005465.7(AKT3):c.696+147G>A	noncoding	Benign
1	243613681	T	C	T243613681C	AKT3	NM_005465.7(AKT3):c.686A>G:p.Asn229Ser	coding	Pathogenic
1	243613764	G	A	G243613764A	AKT3	NM_005465.7(AKT3):c.628-25C>T	noncoding	Benign
1	243637668	C	T	C243637668T	AKT3	NM_005465.7(AKT3):c.504G>A:p.Lys168=	coding	Benign
1	243646186	C	T	C243646186T	AKT3	NM_005465.7(AKT3):c.285-149G>A	noncoding	Benign
1	243695714	C	T	C243695714T	AKT3	NM_005465.7(AKT3):c.49G>A:p.Glu17Lys	coding	Pathogenic
1	244053907	C	T	C244053907T	ZBTB18	NM_205768.2(ZBTB18):c.133C>T:p.Arg45Ter	coding	Pathogenic
1	244053916	C	T	C244053916T	ZBTB18	NM_205768.2(ZBTB18):c.142C>T:p.Arg48Ter	coding	Pathogenic
1	244054113	C	T	C244054113T	ZBTB18	NM_205768.2(ZBTB18):c.339C>T:p.Leu113=	coding	Benign
1	244054171	G	T	G244054171T	ZBTB18	NM_006352.4(ZBTB18):c.370G>T:p.Glu124Ter	coding	Pathogenic
1	244054357	C	T	C244054357T	ZBTB18	NM_006352.4(ZBTB18):c.556C>T:p.Arg186Ter	coding	Pathogenic
1	244054898	C	T	C244054898T	ZBTB18	NM_205768.2(ZBTB18):c.1124C>T:p.Ala375Val	coding	Benign
1	244054917	C	A	C244054917A	ZBTB18	NM_205768.3(ZBTB18):c.1143C>A:p.Cys381Ter	coding	Pathogenic
1	244054957	C	T	C244054957T	ZBTB18	NM_205768.2(ZBTB18):c.1183C>T:p.Gln395Ter	coding	Pathogenic
1	244055156	A	G	A244055156G	ZBTB18	NM_205768.2(ZBTB18):c.1382A>G:p.Asn461Ser	coding	Pathogenic
1	244055164	C	T	C244055164T	ZBTB18	NM_006352.4(ZBTB18):c.1363C>T:p.Arg455Cys	coding	Pathogenic
1	244055165	G	A	G244055165A	ZBTB18	NM_205768.2(ZBTB18):c.1391G>A:p.Arg464His	coding	Pathogenic
1	244055218	C	T	C244055218T	ZBTB18	NM_205768.2(ZBTB18):c.1444C>T:p.Arg482Cys	coding	Pathogenic
1	244835721	G	T	G244835721T	COX20	NM_198076.6(COX20):c.7G>T:p.Ala3Ser	coding	Benign
1	244835765	G	A	G244835765A	COX20	NM_198076.6(COX20):c.42+9G>A	noncoding	Benign
1	244841783	G	C	G244841783C	COX20	NM_198076.6(COX20):c.43-161G>C	noncoding	Benign
1	244841988	C	T	C244841988T	COX20	NM_198076.6(COX20):c.87C>T:p.Cys29=	coding	Benign
1	244842055	A	C	A244842055C	COX20	NM_198076.6(COX20):c.154A>C:p.Thr52Pro	coding	Pathogenic
1	244842071	A	G	A244842071G	COX20	NM_198076.6(COX20):c.157+13A>G	noncoding	Benign
1	244842411	A	C	A244842411C	COX20	NM_198076.6(COX20):c.221+153A>C	noncoding	Benign
1	244842526	C	T	C244842526T	COX20	NM_198076.6(COX20):c.221+268C>T	noncoding	Benign
1	244842539	T	A	T244842539A	COX20	NM_198076.6(COX20):c.221+281T>A	noncoding	Benign
1	244843137	C	T	C244843137T	COX20	NM_198076.6(COX20):c.318C>T:p.Leu106=	coding	Benign
1	244843172	A	G	A244843172G	COX20	NM_198076.6(COX20):c.353A>G:p.Asn118Ser	coding	Benign
1	244854464	G	A	G244854464A	HNRNPU	NM_031844.3(HNRNPU):c.2464C>T:p.Gln822Ter	coding	Benign
1	244854505	T	C	T244854505C	HNRNPU	NM_031844.3(HNRNPU):c.2425-2A>G	noncoding	Pathogenic
1	244855607	G	A	G244855607A	HNRNPU	NM_031844.3(HNRNPU):c.2169C>T:p.Ala723=	coding	Benign/Likely_benign
1	244856119	T	G	T244856119G	HNRNPU	NM_031844.3(HNRNPU):c.1952A>C:p.Glu651Ala	coding	Benign
1	244856159	C	T	C244856159T	HNRNPU	NM_031844.3(HNRNPU):c.1913-1G>A	coding	Pathogenic
1	244856517	G	A	G244856517A	HNRNPU	NM_031844.3(HNRNPU):c.1852C>T:p.Gln618Ter	coding	Pathogenic
1	244856718	T	G	T244856718G	HNRNPU	NM_031844.3(HNRNPU):c.1743+10A>C	noncoding	Benign
1	244856720	C	A	C244856720A	HNRNPU	NM_031844.3(HNRNPU):c.1743+8G>T	noncoding	Benign
1	244856724	G	A	G244856724A	HNRNPU	NM_031844.3(HNRNPU):c.1743+4C>T	noncoding	Benign
1	244856757	G	A	G244856757A	HNRNPU	NM_031844.3(HNRNPU):c.1714C>T:p.Arg572Ter	coding	Pathogenic
1	244856790	G	A	G244856790A	HNRNPU	NM_031844.3(HNRNPU):c.1681C>T:p.Gln561Ter	coding	Pathogenic
1	244856802	G	A	G244856802A	HNRNPU	NM_031844.3(HNRNPU):c.1669C>T:p.Gln557Ter	coding	Pathogenic
1	244856866	A	G	A244856866G	HNRNPU	NM_031844.3(HNRNPU):c.1615-10T>C	noncoding	Benign
1	244858055	G	A	G244858055A	HNRNPU	NM_031844.3(HNRNPU):c.1450C>T:p.Arg484Ter	coding	Pathogenic
1	244858114	T	C	T244858114C	HNRNPU	NM_031844.3(HNRNPU):c.1391A>G:p.Lys464Arg	coding	Benign
1	244858254	T	C	T244858254C	HNRNPU	NM_031844.3(HNRNPU):c.1251A>G:p.Val417=	coding	Benign/Likely_benign
1	244858744	C	T	C244858744T	HNRNPU	NM_031844.3(HNRNPU):c.1215G>A:p.Val405=	coding	Benign/Likely_benign
1	244859303	C	T	C244859303T	HNRNPU	NM_031844.3(HNRNPU):c.1089G>A:p.Trp363Ter	coding	Pathogenic
1	244860327	G	A	G244860327A	HNRNPU	NM_031844.3(HNRNPU):c.1017+8C>T	noncoding	Benign
1	244860483	A	G	A244860483G	HNRNPU	NM_031844.3(HNRNPU):c.878-9T>C	noncoding	Benign
1	244863733	G	T	G244863733T	HNRNPU	NM_031844.3(HNRNPU):c.575C>A:p.Ser192Ter	coding	Pathogenic
1	244863788	G	A	G244863788A	HNRNPU	NM_031844.3(HNRNPU):c.520C>T:p.Gln174Ter	coding	Pathogenic
1	244863797	G	A	G244863797A	HNRNPU	NM_031844.3(HNRNPU):c.511C>T:p.Gln171Ter	coding	Pathogenic
1	244863801	C	T	C244863801T	HNRNPU	NM_031844.3(HNRNPU):c.507G>A:p.Gln169=	coding	Benign/Likely_benign
1	244863827	G	A	G244863827A	HNRNPU	NM_031844.3(HNRNPU):c.481C>T:p.Gln161Ter	coding	Pathogenic
1	244863879	A	G	A244863879G	HNRNPU	NM_031844.3(HNRNPU):c.429T>C:p.Asp143=	coding	Benign
1	244863934	T	G	T244863934G	HNRNPU	NM_031844.3(HNRNPU):c.374A>C:p.Glu125Ala	coding	Benign
1	244863949	G	C	G244863949C	HNRNPU	NM_031844.3(HNRNPU):c.359C>G:p.Pro120Arg	coding	Benign
1	244863955	G	T	G244863955T	HNRNPU	NM_031844.3(HNRNPU):c.353C>A:p.Ser118Ter	coding	Pathogenic
1	244864001	G	A	G244864001A	HNRNPU	NM_031844.3(HNRNPU):c.307C>T:p.Gln103Ter	coding	Pathogenic
1	244864047	C	T	C244864047T	HNRNPU	NM_031844.3(HNRNPU):c.261G>A:p.Glu87=	coding	Benign
1	244864102	C	G	C244864102G	HNRNPU	NM_031844.3(HNRNPU):c.206G>C:p.Arg69Pro	coding	Benign
1	244864167	G	A	G244864167A	HNRNPU	NM_031844.3(HNRNPU):c.141C>T:p.Ala47=	coding	Benign/Likely_benign
1	245082118	C	T	C245082118T	EFCAB2	NM_001143943.1(EFCAB2):c.219C>T:p.Phe73=	coding	Benign
1	245367343	C	T	C245367343T	KIF26B	NM_018012.4(KIF26B):c.975C>T:p.Asn325=	coding	Benign
1	245609405	C	A	C245609405A	KIF26B	NM_018012.4(KIF26B):c.1791C>A:p.Ala597=	coding	Benign
1	245611963	C	T	C245611963T	KIF26B	NM_018012.4(KIF26B):c.2085C>T:p.Ser695=	coding	Benign
1	245685638	C	A	C245685638A	KIF26B	NM_018012.4(KIF26B):c.2655C>A:p.Gly885=	coding	Benign
1	245685889	C	T	C245685889T	KIF26B	NM_018012.4(KIF26B):c.2906C>T:p.Ala969Val	coding	Benign
1	245686142	C	T	C245686142T	KIF26B	NM_018012.4(KIF26B):c.3159C>T:p.Cys1053=	coding	Benign
1	245686214	G	A	G245686214A	KIF26B	NM_018012.4(KIF26B):c.3231G>A:p.Ser1077=	coding	Benign
1	245686427	G	A	G245686427A	KIF26B	NM_018012.4(KIF26B):c.3444G>A:p.Pro1148=	coding	Benign
1	245686994	C	T	C245686994T	KIF26B	NM_018012.4(KIF26B):c.4011C>T:p.Pro1337=	coding	Benign
1	245687204	G	C	G245687204C	KIF26B	NM_018012.4(KIF26B):c.4221G>C:p.Pro1407=	coding	Benign
1	245687308	T	G	T245687308G	KIF26B	NM_018012.4(KIF26B):c.4325T>G:p.Leu1442Arg	coding	Benign
1	245687384	G	A	G245687384A	KIF26B	NM_018012.4(KIF26B):c.4401G>A:p.Thr1467=	coding	Benign
1	245687654	C	T	C245687654T	KIF26B	NM_018012.4(KIF26B):c.4671C>T:p.Cys1557=	coding	Benign
1	245687686	C	T	C245687686T	KIF26B	NM_018012.4(KIF26B):c.4703C>T:p.Ser1568Leu	coding	Benign
1	245687987	G	T	G245687987T	KIF26B	NM_018012.4(KIF26B):c.5004G>T:p.Ser1668=	coding	Benign
1	245688114	G	A	G245688114A	KIF26B	NM_018012.4(KIF26B):c.5131G>A:p.Gly1711Ser	coding	Benign
1	245688146	C	T	C245688146T	KIF26B	NM_018012.4(KIF26B):c.5163C>T:p.Ser1721=	coding	Benign
1	245688183	G	A	G245688183A	KIF26B	NM_018012.4(KIF26B):c.5200G>A:p.Ala1734Thr	coding	Benign
1	245688287	C	A	C245688287A	KIF26B	NM_018012.4(KIF26B):c.5304C>A:p.Gly1768=	coding	Benign
1	245698990	C	T	C245698990T	KIF26B	NM_018012.4(KIF26B):c.6131C>T:p.Ala2044Val	coding	Benign
1	245699046	G	A	G245699046A	KIF26B	NM_018012.4(KIF26B):c.6178+9G>A	noncoding	Benign
1	245702508	C	T	C245702508T	KIF26B	NM_018012.4(KIF26B):c.6229C>T:p.Leu2077=	coding	Benign
1	245915522	C	T	C245915522T	SMYD3	NM_001167740.2(SMYD3):c.813+8G>A	noncoding	Benign
1	246355058	G	A	G246355058A	SMYD3	NM_001167740.2(SMYD3):c.201C>T:p.Val67=	coding	Benign
1	246557457	T	C	T246557457C	TFB2M	NM_022366.3(TFB2M):c.480A>G:p.Gly160=	coding	Benign
1	246564370	G	A	G246564370A	TFB2M	NM_022366.3(TFB2M):c.378C>T:p.Asp126=	coding	Benign
1	247418240	T	G	T247418240G	NLRP3	NM_004895.4(NLRP3):c.-555T>G	noncoding	Benign
1	247418258	A	T	A247418258T	NLRP3	NM_004895.4(NLRP3):c.-537A>T	noncoding	Benign
1	247418268	C	T	C247418268T	NLRP3	NM_004895.4(NLRP3):c.-527C>T	noncoding	Benign
1	247418761	G	T	G247418761T	NLRP3	NM_004895.4(NLRP3):c.-34G>T	noncoding	Benign
1	247419003	T	C	T247419003C	NLRP3	NM_004895.4(NLRP3):c.209T>C:p.Met70Thr	coding	Benign/Likely_benign
1	247419007	C	T	C247419007T	NLRP3	NM_001243133.2(NLRP3):c.207C>T:p.Ala69=	coding	Benign
1	247419040	C	T	C247419040T	NLRP3	NM_004895.4(NLRP3):c.246C>T:p.Asp82=	coding	Benign
1	247419088	G	A	G247419088A	NLRP3	NM_004895.4(NLRP3):c.283+11G>A	noncoding	Benign/Likely_benign
1	247423185	T	C	T247423185C	NLRP3	NM_004895.4(NLRP3):c.284-45T>C	noncoding	Benign
1	247423252	G	A	G247423252A	NLRP3	NM_001243133.2(NLRP3):c.300G>A:p.Ser100=	coding	Benign
1	247423261	T	C	T247423261C	NLRP3	NM_004895.4(NLRP3):c.315T>C:p.Thr105=	coding	Benign/Likely_benign
1	247423356	G	A	G247423356A	NLRP3	NM_004895.4(NLRP3):c.403+7G>A	noncoding	Benign/Likely_benign
1	247423832	C	T	C247423832T	NLRP3	NM_001243133.2(NLRP3):c.398-15C>T	noncoding	Benign
1	247423842	C	T	C247423842T	NLRP3	NM_004895.4(NLRP3):c.404-5C>T	noncoding	Benign
1	247423872	C	T	C247423872T	NLRP3	NM_001243133.2(NLRP3):c.423C>T:p.Tyr141=	coding	Benign
1	247424036	G	A	G247424036A	NLRP3	NM_004895.4(NLRP3):c.593G>A:p.Ser198Asn	coding	Benign
1	247424106	C	T	C247424106T	NLRP3	NM_001243133.2(NLRP3):c.657C>T:p.Thr219=	coding	Benign
1	247424175	G	A	G247424175A	NLRP3	NM_001243133.2(NLRP3):c.726G>A:p.Ala242=	coding	Benign
1	247424227	C	T	C247424227T	NLRP3	NM_004895.4(NLRP3):c.784C>T:p.Arg262Trp	coding	Pathogenic
1	247424229	A	G	A247424229G	NLRP3	NM_001243133.2(NLRP3):c.780A>G:p.Arg260=	coding	Benign
1	247424238	C	T	C247424238T	NLRP3	NM_001243133.2(NLRP3):c.789C>T:p.Ser263=	coding	Benign/Likely_benign
1	247424354	T	G	T247424354G	NLRP3	NM_004895.5(NLRP3):c.911T>G:p.Phe304Cys	coding	Pathogenic
1	247424356	G	A	G247424356A	NLRP3	NM_004895.4(NLRP3):c.913G>A:p.Asp305Asn	coding	Pathogenic
1	247424359	G	A	G247424359A	NLRP3	NM_004895.4(NLRP3):c.916G>A:p.Glu306Lys	coding	Pathogenic
1	247424375	T	C	T247424375C	NLRP3	NM_001243133.1(NLRP3):c.926T>C:p.Phe309Ser	coding	Pathogenic
1	247424379	C	T	C247424379T	NLRP3	NM_004895.4(NLRP3):c.936C>T:p.Asp312=	coding	Benign/Likely_benign
1	247424426	G	A	G247424426A	NLRP3	NM_004895.4(NLRP3):c.983G>A:p.Gly328Glu	coding	Pathogenic
1	247424469	C	T	C247424469T	NLRP3	NM_001243133.2(NLRP3):c.1020C>T:p.Pro340=	coding	Benign/Likely_benign
1	247424481	G	A	G247424481A	NLRP3	NM_004895.4(NLRP3):c.1038G>A:p.Leu346=	coding	Benign
1	247424492	C	T	C247424492T	NLRP3	NM_004895.4(NLRP3):c.1049C>T:p.Thr350Met	coding	Pathogenic
1	247424493	G	A	G247424493A	NLRP3	NM_004895.4(NLRP3):c.1050G>A:p.Thr350=	coding	Benign
1	247424504	C	T	C247424504T	NLRP3	NM_004895.4(NLRP3):c.1061C>T:p.Ala354Val	coding	Pathogenic/Likely_pathogenic
1	247424507	T	C	T247424507C	NLRP3	NM_004895.4(NLRP3):c.1064T>C:p.Leu355Pro	coding	Pathogenic
1	247424514	A	C	A247424514C	NLRP3	NM_004895.4(NLRP3):c.1071A>C:p.Lys357Asn	coding	Pathogenic
1	247424528	T	A	T247424528A	NLRP3	NM_004895.4(NLRP3):c.1085T>A:p.Leu362Gln	coding	Benign
1	247424568	G	A	G247424568A	NLRP3	NM_004895.4(NLRP3):c.1125G>A:p.Glu375=	coding	Benign/Likely_benign
1	247424680	C	T	C247424680T	NLRP3	NM_001243133.2(NLRP3):c.1231C>T:p.Leu411=	coding	Benign
1	247424751	C	T	C247424751T	NLRP3	NM_001243133.2(NLRP3):c.1302C>T:p.Ser434=	coding	Benign
1	247424756	C	T	C247424756T	NLRP3	NM_004895.4(NLRP3):c.1313C>T:p.Thr438Ile	coding	Pathogenic
1	247424765	C	T	C247424765T	NLRP3	NM_004895.4(NLRP3):c.1322C>T:p.Ala441Val	coding	Pathogenic
1	247424823	C	T	C247424823T	NLRP3	NM_004895.4(NLRP3):c.1380C>T:p.His460=	coding	Benign/Likely_benign
1	247424838	C	T	C247424838T	NLRP3	NM_004895.4(NLRP3):c.1395C>T:p.His465=	coding	Benign/Likely_benign
1	247424850	C	T	C247424850T	NLRP3	NM_004895.4(NLRP3):c.1407C>T:p.Leu469=	coding	Benign/Likely_benign
1	247424889	C	A	C247424889A	NLRP3	NM_004895.4(NLRP3):c.1446C>A:p.Ile482=	coding	Benign/Likely_benign
1	247425033	C	T	C247425033T	NLRP3	NM_004895.4(NLRP3):c.1590C>T:p.Ala530=	coding	Benign
1	247425049	C	T	C247425049T	NLRP3	NM_004895.4(NLRP3):c.1606C>T:p.Leu536=	coding	Benign
1	247425094	T	C	T247425094C	NLRP3	NM_004895.4(NLRP3):c.1651T>C:p.Leu551=	coding	Benign/Likely_benign
1	247425148	G	A	G247425148A	NLRP3	NM_004895.4(NLRP3):c.1705G>A:p.Glu569Lys	coding	Pathogenic
1	247425154	G	A	G247425154A	NLRP3	NM_004895.4(NLRP3):c.1711G>A:p.Gly571Arg	coding	Pathogenic
1	247425154	G	C	G247425154C	NLRP3	NM_001243133.1(NLRP3):c.1705G>C:p.Gly569Arg	coding	Pathogenic
1	247425167	T	C	T247425167C	NLRP3	NM_001243133.1(NLRP3):c.1718T>C:p.Phe573Ser	coding	Pathogenic
1	247425329	A	G	A247425329G	NLRP3	NM_001243133.1(NLRP3):c.1880A>G:p.Glu627Gly	coding	Pathogenic
1	247425369	C	T	C247425369T	NLRP3	NM_001243133.2(NLRP3):c.1920C>T:p.Phe640=	coding	Benign/Likely_benign
1	247425567	C	T	C247425567T	NLRP3	NM_004895.4(NLRP3):c.2124C>T:p.Leu708=	coding	Benign/Likely_benign
1	247429578	T	C	T247429578C	NLRP3	NM_004895.4(NLRP3):c.2157-7T>C	noncoding	Benign
1	247429606	T	A	T247429606A	NLRP3	NM_004895.4(NLRP3):c.2178T>A:p.Thr726=	coding	Benign/Likely_benign
1	247429648	C	T	C247429648T	NLRP3	NM_004895.4(NLRP3):c.2220C>T:p.Ser740=	coding	Benign
1	247434124	G	A	G247434124A	NLRP3	NM_004895.4(NLRP3):c.2349G>A:p.Ser783=	coding	Benign
1	247434145	C	A	C247434145A	NLRP3	NM_004895.4(NLRP3):c.2370C>A:p.Ile790=	coding	Benign
1	247434205	C	T	C247434205T	NLRP3	NM_004895.4(NLRP3):c.2430C>T:p.Leu810=	coding	Benign/Likely_benign
1	247434214	C	T	C247434214T	NLRP3	NM_001243133.2(NLRP3):c.2433C>T:p.Phe811=	coding	Benign
1	247436053	A	G	A247436053G	NLRP3	NM_004895.4(NLRP3):c.2582A>G:p.Tyr861Cys	coding	Pathogenic
1	247436075	A	G	A247436075G	NLRP3	NM_001243133.2(NLRP3):c.2598A>G:p.Gly866=	coding	Benign
1	247444846	C	T	C247444846T	NLRP3	NM_001243133.2(NLRP3):c.3005+25C>T	noncoding	Benign/Likely_benign
1	247448620	G	T	G247448620T	NLRP3	NM_001243133.2(NLRP3):c.*116G>T	noncoding	Benign
1	247448734	G	C	G247448734C	NLRP3	NM_004895.4(NLRP3):c.*230G>C	noncoding	Benign
1	247448900	T	A	T247448900A	NLRP3	NM_004895.4(NLRP3):c.*396T>A	noncoding	Benign
1	247448993	C	T	C247448993T	NLRP3	NM_004895.4(NLRP3):c.*489C>T	noncoding	Benign
1	247451461	C	T	C247451461T	OR2B11	NM_001004492.1(OR2B11):c.522G>A:p.Gly174=	coding	Benign
1	247451482	C	G	C247451482G	OR2B11	NM_001004492.1(OR2B11):c.501G>C:p.Thr167=	coding	Benign
1	247605646	C	T	C247605646T	OR2G3	NM_001001914.1(OR2G3):c.61C>T:p.Pro21Ser	coding	Benign
1	247606123	G	A	G247606123A	OR2G3	NM_001001914.1(OR2G3):c.538G>A:p.Glu180Lys	coding	Benign
1	247672772	T	A	T247672772A	OR13G1	NM_001005487.1(OR13G1):c.270A>T:p.Ser90=	coding	Benign
1	247895776	G	A	G247895776A	OR2W3	NM_001001957.2(OR2W3):c.190G>A:p.Ala64Thr	coding	Benign
1	247965423	G	A	G247965423A	OR2AK2	NM_001004491.1(OR2AK2):c.92G>A:p.Gly31Asp	coding	Benign
1	247965679	G	A	G247965679A	OR2AK2	NM_001004491.1(OR2AK2):c.348G>A:p.Thr116=	coding	Benign
1	247965871	G	A	G247965871A	OR2AK2	NM_001004491.1(OR2AK2):c.540G>A:p.Gln180=	coding	Benign
1	247966000	A	G	A247966000G	OR2AK2	NM_001004491.1(OR2AK2):c.669A>G:p.Leu223=	coding	Benign
1	247966199	G	A	G247966199A	OR2AK2	NM_001004491.1(OR2AK2):c.868G>A:p.Ala290Thr	coding	Benign
1	248180245	C	G	C248180245G	OR2M2	NM_001004688.1(OR2M2):c.260C>G:p.Ser87Cys	coding	Benign
1	248180688	T	C	T248180688C	OR2M2	NM_001004688.1(OR2M2):c.703T>C:p.Cys235Arg	coding	Benign
1	248180689	G	A	G248180689A	OR2M2	NM_001004688.1(OR2M2):c.704G>A:p.Cys235Tyr	coding	Benign
1	248273336	A	G	A248273336G	OR2T33	NM_001004695.1(OR2T33):c.479T>C:p.Val160Ala	coding	Benign
1	248453107	C	T	C248453107T	OR2T2	NM_001004136.1(OR2T2):c.310C>T:p.Leu104Phe	coding	Benign
1	248453117	C	A	C248453117A	OR2T2	NM_001004136.1(OR2T2):c.320C>A:p.Thr107Asn	coding	Benign
1	248488626	A	G	A248488626G	OR2T5	NM_001004697.2(OR2T5):c.38A>G:p.Lys13Arg	coding	Benign
1	248850411	G	A	G248850411A	ZNF692	NM_017865.4(ZNF692):c.1359C>T:p.Cys453=	coding	Benign
2	264985	G	T	G264985T	ACP1	NM_004300.4(ACP1):c.21G>T:p.Lys7Asn	coding	Benign
2	265015	G	A	G265015A	ACP1	NM_004300.4(ACP1):c.43+8G>A	noncoding	Benign
2	265017	C	T	C265017T	ACP1	NM_004300.4(ACP1):c.43+10C>T	noncoding	Benign
2	277003	A	G	A277003G	ACP1	NM_004300.4(ACP1):c.317A>G:p.Gln106Arg	coding	Benign
2	277229	G	A	G277229A	ACP1	NM_004300.4(ACP1):c.402G>A:p.Gly134=	coding	Benign
2	277250	G	A	G277250A	ACP1	NM_004300.4(ACP1):c.423G>A:p.Thr141=	coding	Benign
2	672868	A	G	A672868G	TMEM18	NM_152834.4(TMEM18):c.179-6T>C	noncoding	Benign
2	1083594	A	C	A1083594C	SNTG2	NM_018968.4(SNTG2):c.149A>C:p.Glu50Ala	coding	Benign
2	1083616	A	G	A1083616G	SNTG2	NM_018968.4(SNTG2):c.171A>G:p.Gln57=	coding	Benign
2	1165604	G	A	G1165604A	SNTG2	NM_018968.4(SNTG2):c.468G>A:p.Arg156=	coding	Benign
2	1173108	C	T	C1173108T	SNTG2	NM_018968.4(SNTG2):c.516C>T:p.Ser172=	coding	Benign
2	1209174	C	G	C1209174G	SNTG2	NM_018968.4(SNTG2):c.663C>G:p.Ser221=	coding	Benign
2	1237981	G	A	G1237981A	SNTG2	NM_018968.4(SNTG2):c.813G>A:p.Ala271=	coding	Benign
2	1367424	G	C	G1367424C	SNTG2	NM_018968.4(SNTG2):c.1570G>C:p.Gly524Arg	coding	Benign
2	1413472	A	G	A1413472G	TPO	NM_001206744.2(TPO):c.-75A>G	noncoding	Benign
2	1414420	C	G	C1414420G	TPO	NM_001206744.2(TPO):c.12C>G:p.Leu4=	coding	Benign
2	1433432	C	A	C1433432A	TPO	NM_001206744.2(TPO):c.180-6C>A	noncoding	Benign
2	1436306	C	A	C1436306A	TPO	NM_001206744.2(TPO):c.404C>A:p.Pro135His	coding	Benign/Likely_benign
2	1456232	G	T	G1456232T	TPO	NM_001206744.2(TPO):c.769G>T:p.Ala257Ser	coding	Benign
2	1477244	G	A	G1477244A	TPO	NM_001206744.2(TPO):c.978G>A:p.Ala326=	coding	Benign
2	1477298	C	G	C1477298G	TPO	NM_001206744.2(TPO):c.1032C>G:p.Thr344=	coding	Benign/Likely_benign
2	1477383	G	T	G1477383T	TPO	NM_001206744.2(TPO):c.1117G>T:p.Ala373Ser	coding	Benign
2	1477459	G	C	G1477459C	TPO	NM_001206744.2(TPO):c.1193G>C:p.Ser398Thr	coding	Benign
2	1477543	C	G	C1477543G	TPO	NM_001206744.2(TPO):c.1277C>G:p.Ala426Gly	coding	Benign/Likely_benign
2	1484596	A	T	A1484596T	TPO	NM_001206744.2(TPO):c.1339A>T:p.Ile447Phe	coding	Pathogenic
2	1484614	T	G	T1484614G	TPO	NM_001206744.2(TPO):c.1357T>G:p.Tyr453Asp	coding	Pathogenic
2	1484772	C	T	C1484772T	TPO	NM_001206744.2(TPO):c.1515C>T:p.Asp505=	coding	Benign
2	1484823	T	C	T1484823C	TPO	NM_001206744.2(TPO):c.1566T>C:p.Ala522=	coding	Benign/Likely_benign
2	1484842	T	C	T1484842C	TPO	NM_001206744.2(TPO):c.1585T>C:p.Leu529=	coding	Benign
2	1484844	A	C	A1484844C	TPO	NM_001206744.2(TPO):c.1587A>C:p.Leu529Phe	coding	Benign/Likely_benign
2	1487841	C	T	C1487841T	TPO	NM_001206744.2(TPO):c.1618C>T:p.Arg540Ter	coding	Pathogenic
2	1487894	C	T	C1487894T	TPO	NM_001206744.2(TPO):c.1671C>T:p.Asn557=	coding	Benign
2	1487951	G	A	G1487951A	TPO	NM_001206744.2(TPO):c.1728G>A:p.Ala576=	coding	Benign
2	1487991	G	A	G1487991A	TPO	NM_001206744.2(TPO):c.1768G>A:p.Gly590Ser	coding	Pathogenic
2	1493885	G	A	G1493885A	TPO	NM_001206744.2(TPO):c.1852G>A:p.Val618Met	coding	Benign
2	1493976	G	A	G1493976A	TPO	NM_001206744.2(TPO):c.1943G>A:p.Arg648Gln	coding	Pathogenic
2	1494011	C	G	C1494011G	TPO	NM_001206744.2(TPO):c.1978C>G:p.Gln660Glu	coding	Pathogenic/Likely_pathogenic
2	1494027	G	A	G1494027A	TPO	NM_001206744.2(TPO):c.1994G>A:p.Arg665Gln	coding	Pathogenic
2	1494031	C	T	C1494031T	TPO	NM_001206744.2(TPO):c.1998C>T:p.Asp666=	coding	Benign
2	1494059	G	A	G1494059A	TPO	NM_001206744.2(TPO):c.2006+20G>A	noncoding	Benign
2	1496059	C	T	C1496059T	TPO	NM_001206744.2(TPO):c.2077C>T:p.Arg693Trp	coding	Pathogenic
2	1496098	A	G	A1496098G	TPO	NM_001206744.2(TPO):c.2116A>G:p.Met706Val	coding	Benign
2	1496127	C	T	C1496127T	TPO	NM_001206744.2(TPO):c.2145C>T:p.Pro715=	coding	Benign
2	1496155	A	C	A1496155C	TPO	NM_001206744.2(TPO):c.2173A>C:p.Thr725Pro	coding	Benign
2	1496202	A	C	A1496202C	TPO	NM_001206744.2(TPO):c.2215+5A>C	noncoding	Benign
2	1496665	C	T	C1496665T	TPO	NM_001206744.2(TPO):c.2286C>T:p.Arg762=	coding	Benign
2	1503931	C	T	C1503931T	TPO	NM_001206744.2(TPO):c.2387-17C>T	noncoding	Benign
2	1503956	G	A	G1503956A	TPO	NM_001206744.2(TPO):c.2395G>A:p.Glu799Lys	coding	Pathogenic
2	1503973	C	G	C1503973G	TPO	NM_001206744.2(TPO):c.2412C>G:p.Ala804=	coding	Benign
2	1516904	T	C	T1516904C	TPO	NM_001206744.2(TPO):c.2540T>C:p.Val847Ala	coding	Benign
2	1516905	G	A	G1516905A	TPO	NM_001206744.2(TPO):c.2541G>A:p.Val847=	coding	Benign
2	1542555	C	G	C1542555G	TPO	NM_001206744.2(TPO):c.*81C>G	noncoding	Benign
2	1542589	G	T	G1542589T	TPO	NM_001206744.2(TPO):c.*115G>T	noncoding	Benign
2	1634207	G	A	G1634207A	PXDN	NM_012293.3(PXDN):c.4437C>T:p.Pro1479=	coding	Benign
2	1634303	G	A	G1634303A	PXDN	NM_012293.3(PXDN):c.4341C>T:p.Phe1447=	coding	Benign
2	1635435	T	C	T1635435C	PXDN	NM_012293.3(PXDN):c.4293A>G:p.Lys1431=	coding	Benign
2	1635527	G	A	G1635527A	PXDN	NM_012293.3(PXDN):c.4207-6C>T	noncoding	Benign
2	1638928	G	A	G1638928A	PXDN	NM_012293.3(PXDN):c.4124C>T:p.Thr1375Ile	coding	Benign
2	1638964	C	T	C1638964T	PXDN	NM_012293.3(PXDN):c.4088G>A:p.Gly1363Glu	coding	Benign
2	1639436	A	G	A1639436G	PXDN	NM_012293.3(PXDN):c.3953-14T>C	noncoding	Benign
2	1643399	T	C	T1643399C	PXDN	NM_012293.3(PXDN):c.3921A>G:p.Val1307=	coding	Benign
2	1643414	G	A	G1643414A	PXDN	NM_012293.3(PXDN):c.3906C>T:p.Asp1302=	coding	Benign
2	1643470	C	A	C1643470A	PXDN	NM_012293.3(PXDN):c.3850G>T:p.Val1284Leu	coding	Benign
2	1644710	G	A	G1644710A	PXDN	NM_012293.3(PXDN):c.3651C>T:p.Leu1217=	coding	Benign
2	1644740	C	A	C1644740A	PXDN	NM_012293.3(PXDN):c.3621G>T:p.Ser1207=	coding	Benign
2	1648187	C	T	C1648187T	PXDN	NM_012293.3(PXDN):c.3593G>A:p.Arg1198Gln	coding	Benign
2	1648489	G	T	G1648489T	PXDN	NM_012293.3(PXDN):c.3291C>A:p.Pro1097=	coding	Benign
2	1648582	G	A	G1648582A	PXDN	NM_012293.3(PXDN):c.3198C>T:p.Ala1066=	coding	Benign
2	1648590	C	T	C1648590T	PXDN	NM_012293.3(PXDN):c.3190G>A:p.Ala1064Thr	coding	Benign
2	1648605	C	T	C1648605T	PXDN	NM_012293.3(PXDN):c.3175G>A:p.Ala1059Thr	coding	Benign
2	1648615	G	A	G1648615A	PXDN	NM_012293.3(PXDN):c.3165C>T:p.Pro1055=	coding	Benign
2	1648642	C	T	C1648642T	PXDN	NM_012293.3(PXDN):c.3138G>A:p.Thr1046=	coding	Benign
2	1648687	G	A	G1648687A	PXDN	NM_012293.3(PXDN):c.3093C>T:p.Tyr1031=	coding	Benign
2	1648716	C	T	C1648716T	PXDN	NM_012293.3(PXDN):c.3064G>A:p.Val1022Met	coding	Benign
2	1648888	G	A	G1648888A	PXDN	NM_012293.3(PXDN):c.2892C>T:p.Asn964=	coding	Benign
2	1648959	C	T	C1648959T	PXDN	NM_012293.3(PXDN):c.2821G>A:p.Val941Met	coding	Benign
2	1649050	T	G	T1649050G	PXDN	NM_012293.3(PXDN):c.2730A>C:p.Ile910=	coding	Benign
2	1649119	G	A	G1649119A	PXDN	NM_012293.3(PXDN):c.2661C>T:p.Ser887=	coding	Benign
2	1649140	G	C	G1649140C	PXDN	NM_012293.3(PXDN):c.2640C>G:p.Arg880=	coding	Benign
2	1649142	G	A	G1649142A	PXDN	NM_012293.3(PXDN):c.2638C>T:p.Arg880Cys	coding	Pathogenic
2	1649395	C	T	C1649395T	PXDN	NM_012293.3(PXDN):c.2385G>A:p.Pro795=	coding	Benign
2	1649497	G	A	G1649497A	PXDN	NM_012293.3(PXDN):c.2283C>T:p.Thr761=	coding	Benign
2	1649504	G	A	G1649504A	PXDN	NM_012293.3(PXDN):c.2276C>T:p.Ser759Leu	coding	Pathogenic
2	1653634	C	A	C1653634A	PXDN	NM_012293.3(PXDN):c.2098G>T:p.Gly700Ter	coding	Pathogenic
2	1654394	C	T	C1654394T	PXDN	NM_012293.3(PXDN):c.1946+6G>A	noncoding	Benign
2	1660882	A	G	A1660882G	PXDN	NM_012293.3(PXDN):c.1836T>C:p.Asn612=	coding	Benign
2	1660913	G	A	G1660913A	PXDN	NM_012293.3(PXDN):c.1805C>T:p.Ser602Leu	coding	Benign
2	1662096	G	A	G1662096A	PXDN	NM_012293.3(PXDN):c.1656C>T:p.Pro552=	coding	Benign
2	1662203	G	C	G1662203C	PXDN	NM_012293.3(PXDN):c.1568-19C>G	noncoding	Benign
2	1664974	G	A	G1664974A	PXDN	NM_012293.3(PXDN):c.1392C>T:p.Ile464=	coding	Benign
2	1664986	C	T	C1664986T	PXDN	NM_012293.3(PXDN):c.1380G>A:p.Pro460=	coding	Benign
2	1665019	G	A	G1665019A	PXDN	NM_012293.3(PXDN):c.1347C>T:p.Thr449=	coding	Benign
2	1666263	C	T	C1666263T	PXDN	NM_012293.3(PXDN):c.1242G>A:p.Ala414=	coding	Benign
2	1666323	A	G	A1666323G	PXDN	NM_012293.3(PXDN):c.1182T>C:p.Ser394=	coding	Benign
2	1666329	C	A	C1666329A	PXDN	NM_012293.3(PXDN):c.1176G>T:p.Thr392=	coding	Benign
2	1666392	C	T	C1666392T	PXDN	NM_012293.3(PXDN):c.1113G>A:p.Pro371=	coding	Benign
2	1666484	G	A	G1666484A	PXDN	NM_012293.3(PXDN):c.1021C>T:p.Arg341Ter	coding	Pathogenic
2	1673634	G	A	G1673634A	PXDN	NM_012293.3(PXDN):c.1018+9C>T	noncoding	Benign
2	1673692	G	A	G1673692A	PXDN	NM_012293.3(PXDN):c.969C>T:p.Ala323=	coding	Benign
2	1673740	T	C	T1673740C	PXDN	NM_012293.3(PXDN):c.921A>G:p.Thr307=	coding	Benign
2	1680275	C	T	C1680275T	PXDN	NM_012293.3(PXDN):c.648G>A:p.Ala216=	coding	Benign
2	1684072	C	G	C1684072G	PXDN	NM_012293.3(PXDN):c.488+8G>C	noncoding	Benign
2	1684087	C	T	C1684087T	PXDN	NM_012293.3(PXDN):c.481G>A:p.Glu161Lys	coding	Benign
2	1691999	C	T	C1691999T	PXDN	NM_012293.3(PXDN):c.273G>A:p.Leu91=	coding	Benign
2	1693065	T	C	T1693065C	PXDN	NM_012293.3(PXDN):c.270A>G:p.Thr90=	coding	Benign
2	1744455	T	C	T1744455C	PXDN	NM_012293.3(PXDN):c.1A>G:p.Met1Val	coding	Pathogenic
2	1839307	G	A	G1839307A	MYT1L	NM_001303052.2(MYT1L):c.2922C>T:p.Ser974=	coding	Benign
2	1886579	T	C	T1886579C	MYT1L	NM_001303052.2(MYT1L):c.2671A>G:p.Ser891Gly	coding	Pathogenic
2	1887487	C	T	C1887487T	MYT1L	NM_001303052.2(MYT1L):c.2642+1G>A	noncoding	Pathogenic
2	1887559	G	A	G1887559A	MYT1L	NM_001303052.2(MYT1L):c.2571C>T:p.Pro857=	coding	Benign
2	1887576	C	A	C1887576A	MYT1L	NM_001303052.2(MYT1L):c.2554G>T:p.Glu852Ter	coding	Pathogenic
2	1887598	C	T	C1887598T	MYT1L	NM_001303052.2(MYT1L):c.2532G>A:p.Leu844=	coding	Benign
2	1903144	A	T	A1903144T	MYT1L	NM_001303052.2(MYT1L):c.1968T>A:p.Tyr656Ter	coding	Pathogenic
2	1903159	G	A	G1903159A	MYT1L	NM_001303052.2(MYT1L):c.1953C>T:p.Tyr651=	coding	Benign
2	1903189	A	C	A1903189C	MYT1L	NM_001303052.2(MYT1L):c.1923T>G:p.Tyr641Ter	coding	Pathogenic
2	1910341	G	A	G1910341A	MYT1L	NM_001303052.2(MYT1L):c.1716C>T:p.Ser572=	coding	Benign
2	1912024	G	A	G1912024A	MYT1L	NM_001303052.2(MYT1L):c.1705C>T:p.Arg569Ter	coding	Pathogenic
2	1912047	A	T	A1912047T	MYT1L	NM_001303052.2(MYT1L):c.1682T>A:p.Val561Asp	coding	Pathogenic
2	1917238	C	T	C1917238T	MYT1L	NM_001303052.2(MYT1L):c.1585G>A:p.Gly529Arg	coding	Pathogenic/Likely_pathogenic
2	1917244	G	A	G1917244A	MYT1L	NM_001303052.2(MYT1L):c.1579C>T:p.Leu527=	coding	Pathogenic
2	1917296	G	A	G1917296A	MYT1L	NM_001303052.2(MYT1L):c.1527C>T:p.Pro509=	coding	Benign
2	1917307	A	G	A1917307G	MYT1L	NM_001303052.2(MYT1L):c.1516T>C:p.Cys506Arg	coding	Pathogenic
2	1917311	G	A	G1917311A	MYT1L	NM_001303052.2(MYT1L):c.1512C>T:p.Ser504=	coding	Benign
2	1922347	G	A	G1922347A	MYT1L	NM_001303052.2(MYT1L):c.1422C>T:p.Pro474=	coding	Benign
2	1922716	C	A	C1922716A	MYT1L	NM_001303052.2(MYT1L):c.1053G>T:p.Pro351=	coding	Benign
2	1922815	G	A	G1922815A	MYT1L	NM_001303052.2(MYT1L):c.954C>T:p.Ser318=	coding	Benign
2	1943000	C	A	C1943000A	MYT1L	NM_001303052.2(MYT1L):c.487G>T:p.Glu163Ter	coding	Pathogenic
2	1943115	G	A	G1943115A	MYT1L	NM_001303052.2(MYT1L):c.372C>T:p.Asp124=	coding	Benign
2	1943214	G	A	G1943214A	MYT1L	NM_001303052.2(MYT1L):c.273C>T:p.Asp91=	coding	Benign
2	1943341	A	T	A1943341T	MYT1L	NM_001303052.2(MYT1L):c.153-7T>A	noncoding	Benign
2	1979206	G	A	G1979206A	MYT1L	NM_001303052.2(MYT1L):c.111C>T:p.Asp37=	coding	Benign
2	1979726	G	A	G1979726A	MYT1L	NM_001303052.2(MYT1L):c.52C>T:p.Arg18Ter	coding	Pathogenic
2	3388142	C	T	C3388142T	TRAPPC12	NM_016030.6(TRAPPC12):c.519C>T:p.Asp173=	coding	Benign
2	3424593	A	G	A3424593G	TRAPPC12	NM_016030.6(TRAPPC12):c.1347A>G:p.Glu449=	coding	Benign
2	3548003	T	C	T3548003C	RNASEH1	NM_002936.6(RNASEH1):c.702A>G:p.Ala234=	coding	Benign/Likely_benign
2	3549068	G	A	G3549068A	RNASEH1	NM_002936.6(RNASEH1):c.554C>T:p.Ala185Val	coding	Pathogenic
2	3550384	T	C	T3550384C	RNASEH1	NM_002936.6(RNASEH1):c.498A>G:p.Pro166=	coding	Benign
2	3550413	G	A	G3550413A	RNASEH1	NM_002936.6(RNASEH1):c.469C>T:p.Arg157Ter	coding	Pathogenic
2	3550458	C	T	C3550458T	RNASEH1	NM_002936.6(RNASEH1):c.424G>A:p.Val142Ile	coding	Pathogenic
2	3551949	A	G	A3551949G	RNASEH1	NM_002936.5(RNASEH1):c.409+195T>C	noncoding	Benign
2	3552110	G	T	G3552110T	RNASEH1	NM_002936.5(RNASEH1):c.409+34C>A	noncoding	Benign
2	3552265	G	A	G3552265A	RNASEH1	NM_002936.5(RNASEH1):c.288C>T:p.Ser96=	coding	Benign
2	3556706	G	C	G3556706C	RNASEH1	NM_002936.5(RNASEH1):c.244+83C>G	noncoding	Benign
2	3557878	A	G	A3557878G	RNASEH1	NM_002936.5(RNASEH1):c.128+255T>C	noncoding	Benign
2	3557938	T	G	T3557938G	RNASEH1	NM_002936.5(RNASEH1):c.128+195A>C	coding	Benign
2	3557948	A	C	A3557948C	RNASEH1	NM_002936.5(RNASEH1):c.128+185T>G	coding	Benign
2	3558386	T	C	T3558386C	RNASEH1	NC_000002.12:g.3558386T>C	noncoding	Benign
2	3575322	G	T	G3575322T	RPS7	NM_001011.4(RPS7):c.-47G>T	noncoding	Benign
2	3575333	A	C	A3575333C	RPS7	NM_001011.4(RPS7):c.-36A>C	noncoding	Benign
2	3575351	G	A	G3575351A	RPS7	NM_001011.4(RPS7):c.-19+1G>A	noncoding	Pathogenic
2	3575363	C	T	C3575363T	RPS7	NM_001011.4(RPS7):c.-19+13C>T	noncoding	Benign
2	3575816	G	T	G3575816T	RPS7	NM_001011.4(RPS7):c.76-1G>T	noncoding	Pathogenic
2	3575840	C	T	C3575840T	RPS7	NM_001011.4(RPS7):c.99C>T:p.Asn33=	coding	Benign
2	3575889	G	A	G3575889A	RPS7	NM_001011.4(RPS7):c.147+1G>A	coding	Pathogenic
2	3580188	C	T	C3580188T	RPS7	NM_001011.4(RPS7):c.435C>T:p.Arg145=	coding	Benign/Likely_benign
2	3580793	C	A	C3580793A	RPS7	NM_001011.4(RPS7):c.508-12C>A	noncoding	Benign
2	3580913	C	T	C3580913T	RPS7	NM_001011.4(RPS7):c.*31C>T	noncoding	Benign
2	3604363	T	C	T3604363C	COLEC11	NM_024027.5(COLEC11):c.23T>C:p.Val8Ala	coding	Benign/Likely_benign
2	3606254	T	C	T3606254C	COLEC11	NM_024027.5(COLEC11):c.130+1784T>C	noncoding	Benign
2	3626058	G	A	G3626058A	COLEC11	NM_024027.5(COLEC11):c.203-11475G>A	coding	Benign
2	3640294	C	T	C3640294T	COLEC11	NM_024027.5(COLEC11):c.291C>T:p.Ser97=	coding	Benign
2	3643475	G	A	G3643475A	COLEC11	NM_024027.5(COLEC11):c.360G>A:p.Lys120=	coding	Benign
2	3643481	C	T	C3643481T	COLEC11	NM_024027.5(COLEC11):c.366C>T:p.Ile122=	coding	Benign
2	3643734	C	T	C3643734T	COLEC11	NM_024027.5(COLEC11):c.432C>T:p.Ala144=	coding	Benign
2	3643807	T	C	T3643807C	COLEC11	NM_024027.5(COLEC11):c.505T>C:p.Ser169Pro	coding	Pathogenic
2	3643912	G	A	G3643912A	COLEC11	NM_024027.5(COLEC11):c.610G>A:p.Gly204Ser	coding	Pathogenic
2	3644079	C	T	C3644079T	COLEC11	NM_024027.5(COLEC11):c.777C>T:p.Thr259=	coding	Benign
2	3697400	G	A	G3697400A	ALLC	NM_018436.4(ALLC):c.794G>A:p.Arg265Gln	coding	Benign
2	3701529	T	C	T3701529C	ALLC	NM_018436.4(ALLC):c.868T>C:p.Cys290Arg	coding	Benign
2	5692899	T	C	T5692899C	SOX11	NM_003108.4(SOX11):c.178T>C:p.Ser60Pro	coding	Pathogenic
2	5693020	G	C	G5693020C	SOX11	NM_003108.4(SOX11):c.299G>C:p.Arg100Pro	coding	Pathogenic
2	5693074	A	C	A5693074C	SOX11	NM_003108.4(SOX11):c.353A>C:p.Tyr118Ser	coding	Pathogenic
2	5693315	C	A	C5693315A	SOX11	NM_003108.4(SOX11):c.594C>A:p.Tyr198Ter	coding	Pathogenic
2	5693366	G	A	G5693366A	SOX11	NM_003108.4(SOX11):c.645G>A:p.Lys215=	coding	Benign
2	5693512	C	A	C5693512A	SOX11	NM_003108.4(SOX11):c.791C>A:p.Ser264Ter	coding	Pathogenic
2	5694007	G	A	G5694007A	SOX11	NM_003108.4(SOX11):c.1286G>A:p.Trp429Ter	coding	Pathogenic
2	6877812	T	C	T6877812C	RSAD2	NM_080657.5(RSAD2):c.12T>C:p.Leu4=	coding	Benign
2	6877890	G	A	G6877890A	RSAD2	NM_080657.5(RSAD2):c.90G>A:p.Pro30=	coding	Benign
2	6877925	T	G	T6877925G	RSAD2	NM_080657.5(RSAD2):c.125T>G:p.Leu42Arg	coding	Benign
2	6883444	G	A	G6883444A	RSAD2	NM_080657.5(RSAD2):c.420G>A:p.Val140=	coding	Benign
2	8682268	C	T	C8682268T	ID2	NM_002166.5(ID2):c.103C>T:p.Leu35=	coding	Benign
2	8731833	G	A	G8731833A	KIDINS220	NM_020738.4(KIDINS220):c.4203C>T:p.Pro1401=	coding	Benign
2	8731940	G	A	G8731940A	KIDINS220	NM_020738.4(KIDINS220):c.4096C>T:p.Gln1366Ter	coding	Pathogenic
2	8733447	C	T	C8733447T	KIDINS220	NM_020738.4(KIDINS220):c.4050G>A:p.Trp1350Ter	coding	Pathogenic
2	8733503	C	A	C8733503A	KIDINS220	NM_020738.4(KIDINS220):c.3994G>T:p.Glu1332Ter	coding	Pathogenic
2	8733576	G	A	G8733576A	KIDINS220	NM_020738.4(KIDINS220):c.3921C>T:p.Arg1307=	coding	Benign
2	8733663	G	A	G8733663A	KIDINS220	NM_020738.4(KIDINS220):c.3834C>T:p.Asn1278=	coding	Benign
2	8737006	A	G	A8737006G	KIDINS220	NM_020738.4(KIDINS220):c.3586-7T>C	noncoding	Benign
2	8750196	G	A	G8750196A	KIDINS220	NM_020738.4(KIDINS220):c.3330C>T:p.Pro1110=	coding	Benign
2	8750208	G	A	G8750208A	KIDINS220	NM_020738.4(KIDINS220):c.3318C>T:p.Ser1106=	coding	Benign
2	8751481	G	A	G8751481A	KIDINS220	NM_020738.4(KIDINS220):c.3175C>T:p.Arg1059Trp	coding	Benign
2	8778942	G	A	G8778942A	KIDINS220	NM_020738.4(KIDINS220):c.2568C>T:p.Leu856=	coding	Benign
2	8779146	C	T	C8779146T	KIDINS220	NM_020738.4(KIDINS220):c.2371-7G>A	noncoding	Benign
2	8785753	T	C	T8785753C	KIDINS220	NM_020738.4(KIDINS220):c.2217A>G:p.Glu739=	coding	Benign
2	8793961	A	G	A8793961G	KIDINS220	NM_020738.4(KIDINS220):c.1125T>C:p.Ala375=	coding	Benign
2	8796801	A	G	A8796801G	KIDINS220	NM_020738.4(KIDINS220):c.1068T>C:p.Asp356=	coding	Benign
2	9279325	C	T	C9279325T	ASAP2	NM_003887.3(ASAP2):c.135C>T:p.Asp45=	coding	Benign
2	9356320	C	T	C9356320T	ASAP2	NM_003887.3(ASAP2):c.1302C>T:p.Asp434=	coding	Benign
2	9376937	A	G	A9376937G	ASAP2	NM_003887.3(ASAP2):c.1776A>G:p.Ala592=	coding	Benign
2	9393566	C	T	C9393566T	ASAP2	NM_003887.3(ASAP2):c.2603C>T:p.Pro868Leu	coding	Benign
2	9490306	G	A	G9490306A	ADAM17	NM_003183.6(ADAM17):c.2346C>T:p.Phe782=	coding	Benign
2	9490409	G	A	G9490409A	ADAM17	NM_003183.6(ADAM17):c.2243C>T:p.Ala748Val	coding	Benign
2	9490453	G	C	G9490453C	ADAM17	NM_003183.6(ADAM17):c.2199C>G:p.Pro733=	coding	Benign
2	9492907	G	A	G9492907A	ADAM17	NM_003183.6(ADAM17):c.2073C>T:p.Val691=	coding	Benign
2	9492963	C	T	C9492963T	ADAM17	NM_003183.6(ADAM17):c.2017G>A:p.Val673Ile	coding	Benign
2	9497202	A	G	A9497202G	ADAM17	NM_003183.6(ADAM17):c.1695T>C:p.Thr565=	coding	Benign
2	9510006	A	G	A9510006G	ADAM17	NM_003183.6(ADAM17):c.1317T>C:p.Ala439=	coding	Benign
2	9521321	A	G	A9521321G	ADAM17	NM_003183.6(ADAM17):c.844-5T>C	noncoding	Benign
2	9527801	T	C	T9527801C	ADAM17	NM_003183.6(ADAM17):c.604A>G:p.Arg202Gly	coding	Benign
2	9527921	T	C	T9527921C	ADAM17	NM_003183.6(ADAM17):c.484A>G:p.Lys162Glu	coding	Benign
2	9555525	G	A	G9555525A	ADAM17	NM_003183.6(ADAM17):c.81C>T:p.Gly27=	coding	Benign
2	9955068	C	G	C9955068G	GRHL1	NM_198182.3(GRHL1):c.174C>G:p.Ala58=	coding	Benign
2	10046193	G	A	G10046193A	KLF11	NM_003597.5(KLF11):c.86G>A:p.Arg29Gln	coding	Benign/Likely_benign
2	10046292	A	G	A10046292G	KLF11	NM_003597.5(KLF11):c.185A>G:p.Gln62Arg	coding	Benign/Likely_benign
2	10047747	A	G	A10047747G	KLF11	NM_003597.5(KLF11):c.410A>G:p.Asp137Gly	coding	Benign/Likely_benign
2	10047766	C	T	C10047766T	KLF11	NM_003597.5(KLF11):c.429C>T:p.Ala143=	coding	Benign
2	10047996	C	T	C10047996T	KLF11	NM_003597.5(KLF11):c.659C>T:p.Thr220Met	coding	Benign/Likely_benign
2	10048119	C	T	C10048119T	KLF11	NM_003597.5(KLF11):c.782C>T:p.Pro261Leu	coding	Benign/Likely_benign
2	10048376	G	T	G10048376T	KLF11	NM_003597.5(KLF11):c.1039G>T:p.Ala347Ser	coding	Pathogenic
2	10048542	G	A	G10048542A	KLF11	NM_003597.5(KLF11):c.1205G>A:p.Arg402Gln	coding	Benign/Likely_benign
2	10052416	C	T	C10052416T	KLF11	NM_003597.5(KLF11):c.1448C>T:p.Pro483Leu	coding	Benign
2	10052418	G	A	G10052418A	KLF11	NM_003597.5(KLF11):c.1450G>A:p.Gly484Ser	coding	Benign
2	10052614	G	A	G10052614A	KLF11	NM_003597.5(KLF11):c.*107G>A	noncoding	Benign
2	10052699	T	C	T10052699C	KLF11	NM_003597.5(KLF11):c.*192T>C	noncoding	Benign
2	10052701	G	A	G10052701A	KLF11	NM_003597.5(KLF11):c.*194G>A	noncoding	Benign
2	10052742	T	C	T10052742C	KLF11	NM_003597.5(KLF11):c.*235T>C	noncoding	Benign
2	10052748	A	G	A10052748G	KLF11	NM_003597.5(KLF11):c.*241A>G	noncoding	Benign
2	10052769	C	T	C10052769T	KLF11	NM_003597.5(KLF11):c.*262C>T	noncoding	Benign
2	10052942	A	T	A10052942T	KLF11	NM_003597.5(KLF11):c.*435A>T	noncoding	Benign
2	10053051	C	A	C10053051A	KLF11	NM_003597.5(KLF11):c.*544C>A	noncoding	Benign
2	10053119	C	T	C10053119T	KLF11	NM_003597.5(KLF11):c.*612C>T	noncoding	Benign
2	10053389	G	A	G10053389A	KLF11	NM_003597.5(KLF11):c.*882G>A	noncoding	Benign
2	10053487	T	C	T10053487C	KLF11	NM_003597.5(KLF11):c.*980T>C	noncoding	Benign
2	10053488	G	A	G10053488A	KLF11	NM_003597.5(KLF11):c.*981G>A	noncoding	Benign
2	10053930	T	C	T10053930C	KLF11	NM_003597.5(KLF11):c.*1423T>C	noncoding	Benign
2	10054065	T	C	T10054065C	KLF11	NM_003597.5(KLF11):c.*1558T>C	noncoding	Benign
2	10054288	T	C	T10054288C	KLF11	NM_003597.5(KLF11):c.*1781T>C	noncoding	Benign
2	10054360	T	C	T10054360C	KLF11	NM_003597.5(KLF11):c.*1853T>C	noncoding	Benign
2	10054533	G	C	G10054533C	KLF11	NM_003597.5(KLF11):c.*2026G>C	noncoding	Benign
2	10054651	C	T	C10054651T	KLF11	NM_003597.5(KLF11):c.*2144C>T	noncoding	Benign
2	10122846	G	A	G10122846A	RRM2	NM_001034.4(RRM2):c.48G>A:p.Gln16=	coding	Benign
2	10440768	T	A	T10440768A	ODC1	NM_002539.3(ODC1):c.1342A>T:p.Lys448Ter	coding	Pathogenic
2	10440855	G	A	G10440855A	ODC1	NM_002539.3(ODC1):c.1255C>T:p.Gln419Ter	coding	Pathogenic
2	10441508	C	A	C10441508A	ODC1	NM_002539.3(ODC1):c.1241+1G>T	noncoding	Pathogenic
2	10448012	C	T	C10448012T	ODC1	NM_002539.3(ODC1):c.-128+109G>A	noncoding	Benign
2	10726528	C	T	C10726528T	ATP6V1C2	NM_001039362.2(ATP6V1C2):c.156C>T:p.Gly52=	coding	Benign
2	10772538	G	A	G10772538A	ATP6V1C2	NM_001039362.2(ATP6V1C2):c.570-4G>A	noncoding	Benign
2	11193868	T	G	T11193868G	ROCK2	NM_004850.5(ROCK2):c.3609-11A>C	noncoding	Benign
2	11218994	G	T	G11218994T	ROCK2	NM_004850.5(ROCK2):c.1292C>A:p.Thr431Asn	coding	Benign
2	11578289	C	A	C11578289A	GREB1	NM_014668.4(GREB1):c.638-8C>A	noncoding	Benign
2	11580760	G	A	G11580760A	GREB1	NM_014668.4(GREB1):c.829G>A:p.Gly277Ser	coding	Benign
2	11580774	G	A	G11580774A	GREB1	NM_014668.4(GREB1):c.843G>A:p.Pro281=	coding	Benign
2	11598720	G	A	G11598720A	GREB1	NM_014668.4(GREB1):c.2193G>A:p.Thr731=	coding	Benign
2	11610853	C	T	C11610853T	GREB1	NM_014668.4(GREB1):c.2832C>T:p.Cys944=	coding	Benign
2	11618365	C	T	C11618365T	GREB1	NM_014668.4(GREB1):c.3490C>T:p.Arg1164Cys	coding	Benign
2	11618577	G	A	G11618577A	GREB1	NM_014668.4(GREB1):c.3702G>A:p.Ala1234=	coding	Benign
2	11634265	A	G	A11634265G	GREB1	NM_014668.4(GREB1):c.5126A>G:p.Gln1709Arg	coding	Benign
2	11662020	C	T	C11662020T	NTSR2	NM_012344.4(NTSR2):c.845G>A:p.Arg282Lys	coding	Benign
2	11677686	G	C	G11677686C	LPIN1	NM_001261428.3(LPIN1):c.39G>C:p.Glu13Asp	coding	Benign
2	11713787	G	A	G11713787A	LPIN1	NM_001349207.2(LPIN1):c.81+36059G>A	coding	Benign
2	11765372	C	T	C11765372T	LPIN1	NM_001349206.2(LPIN1):c.-9-161C>T	noncoding	Benign
2	11765750	C	T	C11765750T	LPIN1	NM_001349206.2(LPIN1):c.192+17C>T	noncoding	Benign
2	11765930	A	C	A11765930C	LPIN1	NM_001349206.2(LPIN1):c.192+197A>C	noncoding	Benign
2	11767716	C	T	C11767716T	LPIN1	NM_001349206.2(LPIN1):c.193-47C>T	noncoding	Benign
2	11767720	G	T	G11767720T	LPIN1	NM_001349206.2(LPIN1):c.193-43G>T	noncoding	Benign
2	11771503	C	T	C11771503T	LPIN1	NM_001349206.2(LPIN1):c.420C>T:p.Ile140=	coding	Benign
2	11771635	C	T	C11771635T	LPIN1	NM_001349206.2(LPIN1):c.552C>T:p.Ile184=	coding	Benign
2	11773666	G	T	G11773666T	LPIN1	NM_001349206.2(LPIN1):c.643G>T:p.Glu215Ter	coding	Pathogenic
2	11773680	G	A	G11773680A	LPIN1	NM_001349206.2(LPIN1):c.657G>A:p.Leu219=	coding	Benign
2	11773719	G	C	G11773719C	LPIN1	NM_001349206.2(LPIN1):c.696G>C:p.Ser232=	coding	Benign/Likely_benign
2	11781928	A	G	A11781928G	LPIN1	NM_001349206.2(LPIN1):c.958-273A>G	noncoding	Benign
2	11782372	C	T	C11782372T	LPIN1	NM_001349206.2(LPIN1):c.1129C>T:p.Gln377Ter	coding	Pathogenic
2	11782780	C	T	C11782780T	LPIN1	NM_001349206.2(LPIN1):c.1264+273C>T	noncoding	Benign
2	11783834	C	T	C11783834T	LPIN1	NM_001349206.2(LPIN1):c.1270C>T:p.Arg424Ter	coding	Pathogenic
2	11784824	T	C	T11784824C	LPIN1	NM_001349206.2(LPIN1):c.1359-62T>C	noncoding	Benign
2	11785078	T	C	T11785078C	LPIN1	NM_001349206.2(LPIN1):c.1549+2T>C	noncoding	Pathogenic
2	11785209	A	G	A11785209G	LPIN1	NM_001349206.2(LPIN1):c.1549+133A>G	noncoding	Benign
2	11787112	G	A	G11787112A	LPIN1	NM_001349206.2(LPIN1):c.1588G>A:p.Val530Met	coding	Benign
2	11791929	A	G	A11791929G	LPIN1	NM_001349206.2(LPIN1):c.1729A>G:p.Ile577Val	coding	Benign/Likely_benign
2	11792047	G	T	G11792047T	LPIN1	NM_001349206.2(LPIN1):c.1806+41G>T	noncoding	Benign
2	11792209	T	C	T11792209C	LPIN1	NM_001349206.2(LPIN1):c.1806+203T>C	noncoding	Benign
2	11802956	C	T	C11802956T	LPIN1	NM_001349206.2(LPIN1):c.1936C>T:p.Pro646Ser	coding	Benign
2	11804610	T	C	T11804610C	LPIN1	NM_001349206.2(LPIN1):c.2162+39T>C	noncoding	Benign
2	11805407	C	A	C11805407A	LPIN1	NM_001349206.2(LPIN1):c.2249+251C>A	noncoding	Benign
2	11815196	G	C	G11815196C	LPIN1	NM_001349206.2(LPIN1):c.2358G>C:p.Gly786=	coding	Benign
2	11815477	C	T	C11815477T	LPIN1	NM_001349206.2(LPIN1):c.2402+237C>T	noncoding	Benign
2	11819590	C	T	C11819590T	LPIN1	NM_001349206.2(LPIN1):c.2509C>T:p.Arg837Ter	coding	Pathogenic
2	11820488	G	A	G11820488A	LPIN1	NM_001349206.2(LPIN1):c.2595G>A:p.Gln865=	coding	Benign/Likely_benign
2	11825117	C	T	C11825117T	LPIN1	NM_001349206.2(LPIN1):c.*326C>T	noncoding	Benign
2	11825216	G	A	G11825216A	LPIN1	NM_001349206.2(LPIN1):c.*425G>A	noncoding	Benign
2	11825414	A	C	A11825414C	LPIN1	NM_001349206.2(LPIN1):c.*623A>C	noncoding	Benign
2	11825415	A	G	A11825415G	LPIN1	NM_001349206.2(LPIN1):c.*624A>G	noncoding	Benign
2	11825473	G	C	G11825473C	LPIN1	NM_001349206.2(LPIN1):c.*682G>C	noncoding	Benign
2	11825688	C	T	C11825688T	LPIN1	NM_001349206.2(LPIN1):c.*897C>T	noncoding	Benign
2	11826191	T	C	T11826191C	LPIN1	NM_001349206.2(LPIN1):c.*1400T>C	noncoding	Benign
2	11826361	C	G	C11826361G	LPIN1	NM_001349206.2(LPIN1):c.*1570C>G	noncoding	Benign
2	11826462	C	T	C11826462T	LPIN1	NM_001349206.2(LPIN1):c.*1671C>T	noncoding	Benign
2	11826490	G	A	G11826490A	LPIN1	NM_001349206.2(LPIN1):c.*1699G>A	noncoding	Benign
2	11826877	C	G	C11826877G	LPIN1	NM_001349206.2(LPIN1):c.*2086C>G	noncoding	Benign
2	11827093	G	T	G11827093T	LPIN1	NM_001349206.2(LPIN1):c.*2302G>T	noncoding	Benign
2	11827282	G	A	G11827282A	LPIN1	NM_001349206.2(LPIN1):c.*2491G>A	noncoding	Benign
2	12723562	A	T	A12723562T	TRIB2	NM_021643.3(TRIB2):c.563+10A>T	noncoding	Benign
2	15167232	C	T	C15167232T	NBAS	NM_015909.4(NBAS):c.6932G>A:p.Arg2311His	coding	Benign
2	15167288	G	C	G15167288C	NBAS	NM_015909.4(NBAS):c.6876C>G:p.Ser2292=	coding	Benign
2	15167310	T	C	T15167310C	NBAS	NM_015909.4(NBAS):c.6854A>G:p.Asn2285Ser	coding	Benign
2	15178988	C	T	C15178988T	NBAS	NM_015909.4(NBAS):c.6840G>A:p.Thr2280=	coding	Pathogenic
2	15179038	C	G	C15179038G	NBAS	NM_015909.4(NBAS):c.6790G>C:p.Asp2264His	coding	Benign/Likely_benign
2	15186751	C	A	C15186751A	NBAS	NM_015909.4(NBAS):c.6702G>T:p.Leu2234=	coding	Benign
2	15190329	G	A	G15190329A	NBAS	NM_015909.4(NBAS):c.6507C>T:p.His2169=	coding	Benign
2	15190405	T	C	T15190405C	NBAS	NM_015909.4(NBAS):c.6433-2A>G	noncoding	Pathogenic
2	15234679	T	C	T15234679C	NBAS	NM_015909.4(NBAS):c.6012A>G:p.Glu2004=	coding	Benign
2	15238670	C	T	C15238670T	NBAS	NM_015909.4(NBAS):c.5741G>A:p.Arg1914His	coding	Pathogenic
2	15275768	A	G	A15275768G	NBAS	NM_015909.4(NBAS):c.5440T>C:p.Leu1814=	coding	Benign
2	15287121	C	A	C15287121A	NBAS	NM_015909.4(NBAS):c.5090G>T:p.Arg1697Leu	coding	Benign/Likely_benign
2	15292651	C	T	C15292651T	NBAS	NM_015909.4(NBAS):c.4913G>A:p.Arg1638His	coding	Benign/Likely_benign
2	15292717	T	C	T15292717C	NBAS	NM_015909.4(NBAS):c.4847A>G:p.His1616Arg	coding	Benign
2	15356306	T	C	T15356306C	NBAS	NM_015909.4(NBAS):c.3928A>G:p.Thr1310Ala	coding	Benign
2	15366642	G	T	G15366642T	NBAS	NM_015909.4(NBAS):c.3755C>A:p.Ser1252Tyr	coding	Benign
2	15383293	A	G	A15383293G	NBAS	NM_015909.4(NBAS):c.3282T>C:p.His1094=	coding	Benign
2	15394267	G	A	G15394267A	NBAS	NM_015909.4(NBAS):c.3217C>T:p.Arg1073Cys	coding	Benign/Likely_benign
2	15415601	A	C	A15415601C	NBAS	NM_015909.4(NBAS):c.2882T>G:p.Leu961Ter	coding	Pathogenic
2	15417582	A	C	A15417582C	NBAS	NM_015909.4(NBAS):c.2708T>G:p.Leu903Arg	coding	Pathogenic
2	15461722	G	A	G15461722A	NBAS	NM_015909.4(NBAS):c.2167C>T:p.Gln723Ter	coding	Pathogenic
2	15461759	C	T	C15461759T	NBAS	NM_015909.4(NBAS):c.2130G>A:p.Gln710=	coding	Benign
2	15461781	C	G	C15461781G	NBAS	NM_015909.4(NBAS):c.2108G>C:p.Gly703Ala	coding	Benign
2	15467734	G	A	G15467734A	NBAS	NM_015909.4(NBAS):c.1948C>T:p.Pro650Ser	coding	Benign/Likely_benign
2	15468413	A	G	A15468413G	NBAS	NM_015909.4(NBAS):c.1846T>C:p.Leu616=	coding	Benign
2	15468510	C	T	C15468510T	NBAS	NM_015909.4(NBAS):c.1749G>A:p.Trp583Ter	coding	Pathogenic
2	15473245	C	T	C15473245T	NBAS	NM_015909.4(NBAS):c.1702G>A:p.Val568Ile	coding	Benign/Likely_benign
2	15474165	G	A	G15474165A	NBAS	NM_015909.4(NBAS):c.1501C>T:p.Arg501Ter	coding	Pathogenic
2	15474295	A	C	A15474295C	NBAS	NM_015909.4(NBAS):c.1371T>G:p.Ser457=	coding	Benign
2	15474318	T	C	T15474318C	NBAS	NM_015909.4(NBAS):c.1348A>G:p.Ile450Val	coding	Benign
2	15478280	C	G	C15478280G	NBAS	NM_015909.4(NBAS):c.1093G>C:p.Asp365His	coding	Benign/Likely_benign
2	15488890	G	A	G15488890A	NBAS	NM_015909.4(NBAS):c.1083+4C>T	noncoding	Benign
2	15504208	C	T	C15504208T	NBAS	NM_015909.4(NBAS):c.891G>A:p.Pro297=	coding	Benign
2	15534578	A	G	A15534578G	NBAS	NM_015909.4(NBAS):c.711T>C:p.His237=	coding	Benign
2	15536479	G	A	G15536479A	NBAS	NM_015909.4(NBAS):c.586C>T:p.Gln196Ter	coding	Pathogenic
2	15539327	G	A	G15539327A	NBAS	NM_015909.4(NBAS):c.409C>T:p.Arg137Trp	coding	Pathogenic
2	15554052	C	G	C15554052G	NBAS	NM_015909.4(NBAS):c.287+9G>C	noncoding	Benign
2	15554053	T	C	T15554053C	NBAS	NM_015909.4(NBAS):c.287+8A>G	noncoding	Benign
2	15558622	G	C	G15558622C	NBAS	NM_015909.4(NBAS):c.130C>G:p.Gln44Glu	coding	Benign
2	15561288	G	T	G15561288T	NBAS	NM_015909.4(NBAS):c.17C>A:p.Ser6Ter	coding	Pathogenic
2	15620342	A	T	A15620342T	DDX1	NM_004939.3(DDX1):c.1341A>T:p.Pro447=	coding	Benign
2	15629673	T	C	T15629673C	DDX1	NM_004939.3(DDX1):c.1947T>C:p.Cys649=	coding	Benign
2	15940650	C	T	C15940650T	MYCN	NM_005378.6(MYCN):c.-211C>T	coding	Benign
2	15942133	G	T	G15942133T	MYCN	NM_005378.6(MYCN):c.69G>T:p.Ser23=	coding	Benign/Likely_benign
2	15942137	C	T	C15942137T	MYCN	NM_005378.6(MYCN):c.73C>T:p.Gln25Ter	coding	Pathogenic
2	15942253	C	A	C15942253A	MYCN	NM_005378.6(MYCN):c.189C>A:p.Pro63=	coding	Benign
2	15942271	G	A	G15942271A	MYCN	NM_005378.6(MYCN):c.207G>A:p.Glu69=	coding	Benign
2	15942281	G	T	G15942281T	MYCN	NM_005378.6(MYCN):c.217G>T:p.Glu73Ter	coding	Pathogenic
2	15942295	G	A	G15942295A	MYCN	NM_005378.6(MYCN):c.231G>A:p.Trp77Ter	coding	Pathogenic
2	15942852	C	G	C15942852G	MYCN	NM_005378.6(MYCN):c.788C>G:p.Ser263Ter	coding	Pathogenic
2	15942855	G	T	G15942855T	MYCN	NM_005378.6(MYCN):c.790+1G>T	coding	Pathogenic
2	15945519	G	T	G15945519T	MYCN	NM_005378.6(MYCN):c.817G>T:p.Glu273Ter	coding	Pathogenic
2	15945666	C	T	C15945666T	MYCN	NM_005378.6(MYCN):c.964C>T:p.Arg322Ter	coding	Pathogenic
2	15945716	C	A	C15945716A	MYCN	NM_005378.6(MYCN):c.1014C>A:p.Tyr338Ter	coding	Pathogenic
2	15945819	C	T	C15945819T	MYCN	NM_005378.6(MYCN):c.1117C>T:p.Arg373Ter	coding	Pathogenic
2	15945847	G	A	G15945847A	MYCN	NM_005378.6(MYCN):c.1145G>A:p.Arg382His	coding	Pathogenic
2	15945879	C	A	C15945879A	MYCN	NM_005378.6(MYCN):c.1177C>A:p.Arg393Ser	coding	Pathogenic
2	15945879	C	T	C15945879T	MYCN	NM_005378.6(MYCN):c.1177C>T:p.Arg393Cys	coding	Pathogenic
2	15945880	G	A	G15945880A	MYCN	NM_005378.6(MYCN):c.1178G>A:p.Arg393His	coding	Pathogenic
2	15945883	G	A	G15945883A	MYCN	NM_005378.6(MYCN):c.1181G>A:p.Arg394His	coding	Pathogenic
2	17708651	C	T	C17708651T	SMC6	NM_001142286.2(SMC6):c.1833G>A:p.Val611=	coding	Benign
2	17774086	G	A	G17774086A	GEN1	NM_001130009.3(GEN1):c.1072-185G>A	noncoding	Benign
2	17932153	C	T	C17932153T	KCNS3	NM_002252.5(KCNS3):c.1145C>T:p.Ala382Val	coding	Benign
2	18584907	C	T	C18584907T	NT5C1B	NM_001002006.3(NT5C1B):c.510G>A:p.Pro170=	coding	Benign
2	18584925	A	G	A18584925G	NT5C1B	NM_001002006.3(NT5C1B):c.492T>C:p.His164=	coding	Benign
2	18586355	G	A	G18586355A	NT5C1B	NM_001002006.3(NT5C1B):c.337C>T:p.Arg113Ter	coding	Benign
2	18587144	C	T	C18587144T	NT5C1B	NM_001002006.3(NT5C1B):c.150G>A:p.Ser50=	coding	Benign
2	19353461	C	A	C19353461A	OSR1	NM_145260.3(OSR1):c.345G>T:p.Pro115=	coding	Benign
2	19910290	G	A	G19910290A	WDR35	NM_020779.4(WDR35):c.*3268C>T	noncoding	Benign
2	19910601	C	T	C19910601T	WDR35	NM_020779.4(WDR35):c.*2957G>A	noncoding	Benign
2	19910722	G	A	G19910722A	WDR35	NM_020779.4(WDR35):c.*2836C>T	noncoding	Benign
2	19910935	A	G	A19910935G	WDR35	NM_020779.4(WDR35):c.*2623T>C	noncoding	Benign
2	19910936	T	C	T19910936C	WDR35	NM_020779.4(WDR35):c.*2622A>G	noncoding	Benign
2	19911095	G	A	G19911095A	WDR35	NM_020779.4(WDR35):c.*2463C>T	noncoding	Benign
2	19911150	C	G	C19911150G	WDR35	NM_020779.4(WDR35):c.*2408G>C	noncoding	Benign
2	19912069	C	T	C19912069T	WDR35	NM_020779.4(WDR35):c.*1489G>A	noncoding	Benign
2	19912079	G	A	G19912079A	WDR35	NM_020779.4(WDR35):c.*1479C>T	noncoding	Benign
2	19912152	T	C	T19912152C	WDR35	NM_020779.4(WDR35):c.*1406A>G	noncoding	Benign
2	19912429	G	A	G19912429A	WDR35	NM_020779.4(WDR35):c.*1129C>T	noncoding	Benign
2	19912431	T	C	T19912431C	WDR35	NM_020779.4(WDR35):c.*1127A>G	noncoding	Benign
2	19912508	A	G	A19912508G	WDR35	NM_020779.4(WDR35):c.*1050T>C	noncoding	Benign
2	19912580	T	C	T19912580C	WDR35	NM_020779.4(WDR35):c.*978A>G	noncoding	Benign
2	19913005	C	A	C19913005A	WDR35	NM_020779.4(WDR35):c.*553G>T	noncoding	Benign
2	19913035	C	T	C19913035T	WDR35	NM_020779.4(WDR35):c.*523G>A	noncoding	Benign
2	19913071	G	A	G19913071A	WDR35	NM_020779.4(WDR35):c.*487C>T	noncoding	Benign
2	19913327	G	T	G19913327T	WDR35	NM_020779.4(WDR35):c.*231C>A	noncoding	Benign
2	19913460	A	G	A19913460G	WDR35	NM_020779.4(WDR35):c.*98T>C	noncoding	Benign
2	19913645	C	A	C19913645A	WDR35	NM_020779.4(WDR35):c.3426G>T:p.Trp1142Cys	coding	Pathogenic
2	19930384	T	G	T19930384G	WDR35	NM_020779.4(WDR35):c.3121+12A>C	noncoding	Benign
2	19930498	G	A	G19930498A	WDR35	NM_020779.4(WDR35):c.3019C>T:p.Arg1007Cys	coding	Benign
2	19930519	C	A	C19930519A	WDR35	NM_020779.4(WDR35):c.2998G>T:p.Glu1000Ter	coding	Pathogenic
2	19931318	T	C	T19931318C	WDR35	NM_020779.4(WDR35):c.2915A>G:p.Glu972Gly	coding	Benign
2	19931354	T	C	T19931354C	WDR35	NM_020779.4(WDR35):c.2879A>G:p.Tyr960Cys	coding	Pathogenic
2	19931398	T	C	T19931398C	WDR35	NM_020779.4(WDR35):c.2835A>G:p.Glu945=	coding	Benign
2	19931423	C	A	C19931423A	WDR35	NM_020779.4(WDR35):c.2824-14G>T	noncoding	Benign
2	19933460	C	T	C19933460T	WDR35	NM_020779.4(WDR35):c.2599G>A:p.Ala867Thr	coding	Benign
2	19933493	C	A	C19933493A	WDR35	NM_020779.4(WDR35):c.2566G>T:p.Val856Phe	coding	Benign
2	19935522	T	C	T19935522C	WDR35	NM_020779.4(WDR35):c.2496A>G:p.Glu832=	coding	Benign
2	19935529	T	A	T19935529A	WDR35	NM_020779.4(WDR35):c.2489A>T:p.Asp830Val	coding	Pathogenic
2	19937748	G	A	G19937748A	WDR35	NM_020779.4(WDR35):c.2262C>T:p.Asp754=	coding	Benign/Likely_benign
2	19937861	T	C	T19937861C	WDR35	NM_020779.4(WDR35):c.2149A>G:p.Ile717Val	coding	Benign
2	19941796	A	C	A19941796C	WDR35	NM_020779.4(WDR35):c.1889T>G:p.Leu630Ter	coding	Pathogenic/Likely_pathogenic
2	19945787	T	C	T19945787C	WDR35	NM_020779.4(WDR35):c.1844A>G:p.Glu615Gly	coding	Pathogenic
2	19945876	G	A	G19945876A	WDR35	NM_020779.4(WDR35):c.1755C>T:p.Val585=	coding	Benign/Likely_benign
2	19946494	C	T	C19946494T	WDR35	NM_020779.4(WDR35):c.1601G>A:p.Arg534Gln	coding	Benign/Likely_benign
2	19946495	G	A	G19946495A	WDR35	NM_020779.4(WDR35):c.1600C>T:p.Arg534Ter	coding	Pathogenic
2	19946504	G	C	G19946504C	WDR35	NM_020779.4(WDR35):c.1591C>G:p.Leu531Val	coding	Benign/Likely_benign
2	19946536	A	G	A19946536G	WDR35	NM_020779.4(WDR35):c.1559T>C:p.Leu520Pro	coding	Pathogenic
2	19946549	G	A	G19946549A	WDR35	NM_020779.4(WDR35):c.1546C>T:p.Gln516Ter	coding	Pathogenic
2	19948224	T	C	T19948224C	WDR35	NM_020779.4(WDR35):c.1471-7A>G	noncoding	Benign/Likely_benign
2	19951284	A	T	A19951284T	WDR35	NM_020779.4(WDR35):c.1470+131T>A	noncoding	Benign
2	19953831	T	C	T19953831C	WDR35	NM_020779.4(WDR35):c.1400+3A>G	noncoding	Pathogenic
2	19953853	G	A	G19953853A	WDR35	NM_020779.4(WDR35):c.1381C>T:p.Arg461Ter	coding	Pathogenic
2	19960553	C	T	C19960553T	WDR35	NM_020779.4(WDR35):c.1255+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	19966829	C	T	C19966829T	WDR35	NM_020779.4(WDR35):c.1089G>A:p.Thr363=	coding	Benign
2	19966860	C	G	C19966860G	WDR35	NM_020779.4(WDR35):c.1058G>C:p.Arg353Pro	coding	Benign
2	19969494	G	A	G19969494A	WDR35	NM_020779.4(WDR35):c.994C>T:p.Arg332Ter	coding	Pathogenic
2	19973578	G	A	G19973578A	WDR35	NM_020779.4(WDR35):c.867C>T:p.Tyr289=	coding	Benign
2	19973664	A	G	A19973664G	WDR35	NM_020779.4(WDR35):c.781T>C:p.Trp261Arg	coding	Pathogenic
2	19973675	A	G	A19973675G	WDR35	NM_020779.4(WDR35):c.770T>C:p.Val257Ala	coding	Benign/Likely_benign
2	19973680	G	A	G19973680A	WDR35	NM_020779.4(WDR35):c.765C>T:p.Tyr255=	coding	Benign
2	19974497	C	T	C19974497T	WDR35	NM_020779.4(WDR35):c.707G>A:p.Cys236Tyr	coding	Pathogenic
2	19975551	G	A	G19975551A	WDR35	NM_020779.4(WDR35):c.549C>T:p.Tyr183=	coding	Benign
2	19975596	A	T	A19975596T	WDR35	NM_020779.4(WDR35):c.504T>A:p.Ser168Arg	coding	Pathogenic
2	19978869	A	G	A19978869G	WDR35	NM_020779.4(WDR35):c.318T>C:p.Ile106=	coding	Benign
2	19982552	A	T	A19982552T	WDR35	NM_020779.4(WDR35):c.143-18T>A	noncoding	Pathogenic
2	19989155	A	G	A19989155G	WDR35	NM_020779.4(WDR35):c.142+10T>C	noncoding	Benign
2	19989254	T	C	T19989254C	MATN3;WDR35	NM_020779.4(WDR35):c.53A>G:p.Gln18Arg	coding	Benign/Likely_benign
2	19989284	T	C	T19989284C	WDR35	NM_020779.4(WDR35):c.25-2A>G	noncoding	Pathogenic
2	19989284	T	G	T19989284G	WDR35	NM_020779.4(WDR35):c.25-2A>C	noncoding	Pathogenic
2	19989328	C	T	C19989328T	WDR35	NM_020779.4(WDR35):c.25-46G>A	noncoding	Benign
2	19992352	G	A	G19992352A	MATN3	NM_002381.5(MATN3):c.*759C>T	noncoding	Benign
2	19992935	G	A	G19992935A	MATN3;WDR35;LOC101928222	NM_002381.5(MATN3):c.*176C>T	noncoding	Benign
2	19993170	G	A	G19993170A	MATN3;WDR35;LOC101928222	NM_002381.5(MATN3):c.1406-4C>T	noncoding	Benign/Likely_benign
2	19994275	G	C	G19994275C	MATN3	NM_002381.5(MATN3):c.1405+24C>G	noncoding	Benign
2	19997257	G	A	G19997257A	MATN3	NM_002381.5(MATN3):c.1171C>T:p.Arg391Cys	coding	Benign/Likely_benign
2	19997269	C	T	C19997269T	MATN3	NM_002381.5(MATN3):c.1169-10G>A	noncoding	Benign
2	20003167	A	T	A20003167T	MATN3	NM_002381.5(MATN3):c.910T>A:p.Cys304Ser	coding	Pathogenic
2	20003168	C	T	C20003168T	MATN3	NM_002381.5(MATN3):c.909G>A:p.Thr303=	coding	Benign
2	20003169	G	A	G20003169A	MATN3	NM_002381.5(MATN3):c.908C>T:p.Thr303Met	coding	Benign
2	20005780	C	T	C20005780T	MATN3	NM_002381.5(MATN3):c.754G>A:p.Glu252Lys	coding	Benign
2	20005878	G	T	G20005878T	MATN3	NM_002381.5(MATN3):c.656C>A:p.Ala219Asp	coding	Pathogenic
2	20005919	C	T	C20005919T	MATN3	NM_002381.5(MATN3):c.615G>A:p.Glu205=	coding	Benign
2	20005953	A	T	A20005953T	MATN3	NM_002381.5(MATN3):c.581T>A:p.Val194Asp	coding	Pathogenic
2	20006087	G	A	G20006087A	MATN3	NM_002381.5(MATN3):c.447C>T:p.Ala149=	coding	Benign
2	20006152	C	G	C20006152G	MATN3	NM_002381.5(MATN3):c.382G>C:p.Ala128Pro	coding	Pathogenic
2	20006173	G	A	G20006173A	MATN3	NM_002381.5(MATN3):c.361C>T:p.Arg121Trp	coding	Pathogenic
2	20006175	G	A	G20006175A	MATN3	NM_002381.5(MATN3):c.359C>T:p.Thr120Met	coding	Pathogenic
2	20006180	G	A	G20006180A	MATN3	NM_002381.5(MATN3):c.354C>T:p.Ala118=	coding	Benign
2	20012445	A	C	A20012445C	MATN3	NM_002381.5(MATN3):c.187T>G:p.Ser63Ala	coding	Benign
2	20012570	A	C	A20012570C	MATN3	NM_002381.5(MATN3):c.62T>G:p.Leu21Arg	coding	Benign
2	20204094	C	T	C20204094T	SDC1	NM_002997.5(SDC1):c.346G>A:p.Ala116Thr	coding	Benign
2	20204128	A	G	A20204128G	SDC1	NM_002997.5(SDC1):c.312T>C:p.Ala104=	coding	Benign
2	20204196	C	T	C20204196T	SDC1	NM_002997.5(SDC1):c.244G>A:p.Gly82Ser	coding	Benign
2	20204213	G	A	G20204213A	SDC1	NM_002997.5(SDC1):c.227C>T:p.Thr76Met	coding	Benign
2	20204237	G	A	G20204237A	SDC1	NM_002997.5(SDC1):c.203C>T:p.Thr68Met	coding	Benign
2	20670928	G	A	G20670928A	GDF7	NM_182828.4(GDF7):c.856G>A:p.Ala286Thr	coding	Benign
2	20671018	G	A	G20671018A	GDF7	NM_182828.4(GDF7):c.946G>A:p.Gly316Ser	coding	Benign
2	20671182	G	T	G20671182T	GDF7	NM_182828.4(GDF7):c.1110G>T:p.Pro370=	coding	Benign
2	20774826	C	T	C20774826T	LDAH	NM_021925.4(LDAH):c.452G>A:p.Arg151Gln	coding	Benign
2	21001973	C	T	C21001973T	APOB	NM_000384.3(APOB):c.13449G>A:p.Ala4483=	coding	Benign/Likely_benign
2	21002202	A	G	A21002202G	APOB	NM_000384.3(APOB):c.13220T>C:p.Ile4407Thr	coding	Pathogenic
2	21002254	C	G	C21002254G	APOB	NM_000384.3(APOB):c.13168G>C:p.Asp4390His	coding	Pathogenic
2	21002271	A	G	A21002271G	APOB	NM_000384.3(APOB):c.13151T>C:p.Leu4384Pro	coding	Pathogenic
2	21002287	G	A	G21002287A	APOB	NM_000384.3(APOB):c.13135C>T:p.Gln4379Ter	coding	Pathogenic
2	21002296	G	A	G21002296A	APOB	NM_000384.3(APOB):c.13126C>T:p.Gln4376Ter	coding	Pathogenic
2	21002308	G	A	G21002308A	APOB	NM_000384.3(APOB):c.13114C>T:p.Gln4372Ter	coding	Pathogenic
2	21002327	G	A	G21002327A	APOB	NM_000384.3(APOB):c.13095C>T:p.Asn4365=	coding	Benign/Likely_benign
2	21002363	G	T	G21002363T	APOB	NM_000384.3(APOB):c.13059C>A:p.Cys4353Ter	coding	Pathogenic
2	21002409	C	T	C21002409T	APOB	NM_000384.3(APOB):c.13013G>A:p.Ser4338Asn	coding	Benign
2	21002613	C	G	C21002613G	APOB	NM_000384.3(APOB):c.12809G>C:p.Arg4270Thr	coding	Benign
2	21002638	G	A	G21002638A	APOB	NM_000384.3(APOB):c.12784C>T:p.Leu4262=	coding	Benign/Likely_benign
2	21002723	C	T	C21002723T	APOB	NM_000384.3(APOB):c.12699G>A:p.Ser4233=	coding	Benign/Likely_benign
2	21002881	C	T	C21002881T	APOB	NM_000384.3(APOB):c.12541G>A:p.Glu4181Lys	coding	Benign/Likely_benign
2	21004459	G	A	G21004459A	APOB	NM_000384.3(APOB):c.11904-7C>T	noncoding	Benign/Likely_benign
2	21004638	G	A	G21004638A	APOB	NM_000384.3(APOB):c.11826C>T:p.Ala3942=	coding	Benign
2	21004645	G	A	G21004645A	APOB	NM_000384.3(APOB):c.11819C>T:p.Thr3940Met	coding	Benign/Likely_benign
2	21004656	G	A	G21004656A	APOB	NM_000384.3(APOB):c.11808C>T:p.Ile3936=	coding	Benign/Likely_benign
2	21004677	T	G	T21004677G	APOB	NM_000384.3(APOB):c.11789-2A>C	noncoding	Pathogenic
2	21005064	G	A	G21005064A	APOB	NM_000384.3(APOB):c.11788+16C>T	noncoding	Benign
2	21005104	G	A	G21005104A	APOB	NM_000384.3(APOB):c.11764C>T:p.Gln3922Ter	coding	Pathogenic
2	21005300	G	A	G21005300A	APOB	NM_000384.3(APOB):c.11568C>T:p.Ile3856=	coding	Benign/Likely_benign
2	21005687	A	G	A21005687G	APOB	NM_000384.3(APOB):c.11181T>C:p.Ala3727=	coding	Benign/Likely_benign
2	21005955	C	T	C21005955T	APOB	NM_000384.3(APOB):c.10913G>A:p.Arg3638Gln	coding	Benign/Likely_benign
2	21006100	C	T	C21006100T	APOB	NM_000384.3(APOB):c.10768G>A:p.Glu3590Lys	coding	Pathogenic
2	21006128	G	A	G21006128A	APOB	NM_000384.3(APOB):c.10740C>T:p.Asn3580=	coding	Benign/Likely_benign
2	21006128	G	C	G21006128C	APOB	NM_000384.3(APOB):c.10740C>G:p.Asn3580Lys	coding	Benign/Likely_benign
2	21006131	G	A	G21006131A	APOB	NM_000384.3(APOB):c.10737C>T:p.Thr3579=	coding	Benign/Likely_benign
2	21006134	G	A	G21006134A	APOB	NM_000384.3(APOB):c.10734C>T:p.Phe3578=	coding	Benign/Likely_benign
2	21006235	C	A	C21006235A	APOB	NM_000384.3(APOB):c.10633G>T:p.Glu3545Ter	coding	Pathogenic
2	21006288	C	A	C21006288A	APOB	NM_000384.3(APOB):c.10580G>T:p.Arg3527Leu	coding	Pathogenic
2	21006389	C	T	C21006389T	APOB	NM_000384.3(APOB):c.10479G>A:p.Glu3493=	coding	Benign
2	21006483	T	C	T21006483C	APOB	NM_000384.3(APOB):c.10385A>G:p.Tyr3462Cys	coding	Benign/Likely_benign
2	21006574	G	C	G21006574C	APOB	NM_000384.3(APOB):c.10294C>G:p.Gln3432Glu	coding	Benign/Likely_benign
2	21007013	G	A	G21007013A	APOB	NM_000384.3(APOB):c.9855C>T:p.Ile3285=	coding	Benign/Likely_benign
2	21007376	C	T	C21007376T	APOB	NM_000384.3(APOB):c.9492G>A:p.Thr3164=	coding	Benign
2	21007642	G	T	G21007642T	APOB	NM_000384.3(APOB):c.9226C>A:p.Leu3076Met	coding	Benign/Likely_benign
2	21007864	G	A	G21007864A	APOB	NM_000384.3(APOB):c.9004C>T:p.Leu3002=	coding	Benign/Likely_benign
2	21007991	C	T	C21007991T	APOB	NM_000384.3(APOB):c.8877G>A:p.Leu2959=	coding	Benign/Likely_benign
2	21008476	C	A	C21008476A	APOB	NM_000384.3(APOB):c.8392G>T:p.Glu2798Ter	coding	Pathogenic
2	21008573	T	C	T21008573C	APOB	NM_000384.3(APOB):c.8295A>G:p.Gln2765=	coding	Benign/Likely_benign
2	21008652	G	A	G21008652A	APOB	NM_000384.3(APOB):c.8216C>T:p.Pro2739Leu	coding	Benign/Likely_benign
2	21009139	T	G	T21009139G	APOB	NM_000384.3(APOB):c.7729A>C:p.Met2577Leu	coding	Benign
2	21009263	G	T	G21009263T	APOB	NM_000384.3(APOB):c.7605C>A:p.Tyr2535Ter	coding	Pathogenic
2	21009268	G	A	G21009268A	APOB	NM_000384.3(APOB):c.7600C>T:p.Arg2534Ter	coding	Benign
2	21009323	G	A	G21009323A	APOB	NM_000384.3(APOB):c.7545C>T:p.Thr2515=	coding	Benign
2	21009331	G	A	G21009331A	APOB	NM_000384.3(APOB):c.7537C>T:p.Arg2513Ter	coding	Pathogenic
2	21010033	G	A	G21010033A	APOB	NM_000384.3(APOB):c.6835C>T:p.Gln2279Ter	coding	Pathogenic
2	21010841	A	G	A21010841G	APOB	NM_000384.3(APOB):c.6027T>C:p.Leu2009=	coding	Benign/Likely_benign
2	21011100	T	C	T21011100C	APOB	NM_000384.3(APOB):c.5768A>G:p.His1923Arg	coding	Benign/Likely_benign
2	21011127	T	C	T21011127C	APOB	NM_000384.3(APOB):c.5741A>G:p.Asn1914Ser	coding	Benign/Likely_benign
2	21011630	A	C	A21011630C	APOB	NM_000384.3(APOB):c.5238T>G:p.Tyr1746Ter	coding	Pathogenic
2	21012217	G	A	G21012217A	APOB	NM_000384.3(APOB):c.4651C>T:p.Gln1551Ter	coding	Pathogenic
2	21012439	G	A	G21012439A	APOB	NM_000384.3(APOB):c.4429C>T:p.Gln1477Ter	coding	Pathogenic
2	21012497	T	C	T21012497C	APOB	NM_000384.3(APOB):c.4371A>G:p.Ala1457=	coding	Benign/Likely_benign
2	21012503	G	A	G21012503A	APOB	NM_000384.3(APOB):c.4365C>T:p.Phe1455=	coding	Benign/Likely_benign
2	21013287	G	C	G21013287C	APOB	NM_000384.3(APOB):c.4089C>G:p.Tyr1363Ter	coding	Pathogenic
2	21013287	G	T	G21013287T	APOB	NM_000384.3(APOB):c.4089C>A:p.Tyr1363Ter	coding	Pathogenic
2	21013379	G	A	G21013379A	APOB	NM_000384.3(APOB):c.3997C>T:p.Arg1333Ter	coding	Pathogenic
2	21013482	A	G	A21013482G	APOB	NM_000384.3(APOB):c.3894T>C:p.Ile1298=	coding	Benign
2	21014516	C	G	C21014516G	APOB	NM_000384.3(APOB):c.3774G>C:p.Leu1258=	coding	Benign/Likely_benign
2	21015169	A	T	A21015169T	APOB	NM_000384.3(APOB):c.3600T>A:p.Tyr1200Ter	coding	Pathogenic
2	21015207	T	A	T21015207A	APOB	NM_000384.3(APOB):c.3562A>T:p.Lys1188Ter	coding	Pathogenic
2	21015270	C	T	C21015270T	APOB	NM_000384.3(APOB):c.3509-10G>A	noncoding	Benign/Likely_benign
2	21015464	G	A	G21015464A	APOB	NM_000384.3(APOB):c.3414C>T:p.Leu1138=	coding	Benign
2	21016492	G	C	G21016492C	APOB	NM_000384.3(APOB):c.3279C>G:p.Thr1093=	coding	Benign
2	21016621	T	C	T21016621C	APOB	NM_000384.3(APOB):c.3150A>G:p.Thr1050=	coding	Benign
2	21019785	G	A	G21019785A	APOB	NM_000384.3(APOB):c.2937C>T:p.Gly979=	coding	Benign/Likely_benign
2	21019924	A	C	A21019924C	APOB	NM_000384.3(APOB):c.2817-19T>G	noncoding	Benign/Likely_benign
2	21023510	C	G	C21023510G	APOB	NM_000384.3(APOB):c.2604+15G>C	noncoding	Benign/Likely_benign
2	21025059	G	A	G21025059A	APOB	NM_000384.3(APOB):c.2310C>T:p.Val770=	coding	Benign/Likely_benign
2	21027848	C	A	C21027848A	APOB	NM_000384.3(APOB):c.2047G>T:p.Ala683Ser	coding	Benign/Likely_benign
2	21028042	G	A	G21028042A	APOB	NM_000384.3(APOB):c.1853C>T:p.Ala618Val	coding	Benign/Likely_benign
2	21028066	C	T	C21028066T	APOB	NM_000384.3(APOB):c.1830-1G>A	coding	Pathogenic
2	21028362	G	A	G21028362A	APOB	NM_000384.3(APOB):c.1794C>T:p.Ala598=	coding	Benign
2	21028371	G	C	G21028371C	APOB	NM_000384.3(APOB):c.1785C>G:p.Ser595=	coding	Benign/Likely_benign
2	21034903	T	C	T21034903C	APOB	NM_000384.3(APOB):c.819-2A>G	noncoding	Pathogenic
2	21035651	C	T	C21035651T	APOB	NM_000384.3(APOB):c.751G>A:p.Ala251Thr	coding	Benign/Likely_benign
2	21037187	T	A	T21037187A	APOB	NM_000384.3(APOB):c.606A>T:p.Glu202Asp	coding	Benign/Likely_benign
2	21037212	G	A	G21037212A	APOB	NM_000384.3(APOB):c.581C>T:p.Thr194Met	coding	Benign/Likely_benign
2	21037220	G	A	G21037220A	APOB	NM_000384.3(APOB):c.573C>T:p.Thr191=	coding	Benign/Likely_benign
2	21037264	G	A	G21037264A	APOB	NM_000384.3(APOB):c.538-9C>T	noncoding	Benign/Likely_benign
2	21038086	C	A	C21038086A	APOB	NM_000384.3(APOB):c.409G>T:p.Glu137Ter	coding	Pathogenic
2	21041028	G	A	G21041028A	APOB	NM_000384.3(APOB):c.293C>T:p.Thr98Ile	coding	Benign/Likely_benign
2	21041089	A	G	A21041089G	APOB	NM_000384.3(APOB):c.238-6T>C	noncoding	Benign
2	21042469	C	G	C21042469G	APOB	NM_000384.3(APOB):c.129G>C:p.Ala43=	coding	Benign
2	24067780	G	A	G24067780A	SF3B6	NM_016047.4(SF3B6):c.360C>T:p.Asn120=	coding	Benign
2	24068453	G	A	G24068453A	SF3B6	NM_016047.4(SF3B6):c.156C>T:p.Asn52=	coding	Benign
2	24271946	A	T	A24271946T	ITSN2	NM_006277.3(ITSN2):c.2082-5T>A	noncoding	Benign
2	24298692	C	T	C24298692T	ITSN2	NM_006277.3(ITSN2):c.1467G>A:p.Lys489=	coding	Benign
2	24665896	A	C	A24665896C	NCOA1	NM_003743.5(NCOA1):c.237A>C:p.Leu79=	coding	Benign
2	24739432	T	C	T24739432C	NCOA1	NM_003743.5(NCOA1):c.3202T>C:p.Leu1068=	coding	Benign
2	24821548	G	A	G24821548A	ADCY3	NM_001322101.2(CENPO):c.*2230G>A	coding	Benign
2	24823338	C	T	C24823338T	ADCY3	NM_004036.5(ADCY3):c.2754G>A:p.Thr918=	coding	Benign
2	24827538	G	A	G24827538A	ADCY3	NM_004036.5(ADCY3):c.2495+8C>T	noncoding	Benign
2	24836986	G	A	G24836986A	ADCY3	NM_004036.5(ADCY3):c.1593C>T:p.Thr531=	coding	Benign
2	24841574	G	C	G24841574C	ADCY3	NM_004036.5(ADCY3):c.1050C>G:p.Arg350=	coding	Benign
2	24918661	G	A	G24918661A	ADCY3	NM_004036.5(ADCY3):c.327C>T:p.Ala109=	coding	Benign
2	25161018	G	A	G25161018A	POMC	NM_000939.4(POMC):c.*63C>T	noncoding	Benign
2	25161300	G	A	G25161300A	POMC	NM_000939.4(POMC):c.585C>T:p.Ala195=	coding	Benign
2	25161539	G	A	G25161539A	POMC	NM_000939.4(POMC):c.346C>T:p.Leu116=	coding	Benign/Likely_benign
2	25161572	C	A	C25161572A	POMC	NM_000939.4(POMC):c.313G>T:p.Glu105Ter	coding	Pathogenic
2	25161603	G	A	G25161603A	POMC	NM_000939.4(POMC):c.282C>T:p.Ser94=	coding	Benign
2	25161634	C	T	C25161634T	POMC	NM_000939.4(POMC):c.251G>A:p.Trp84Ter	coding	Pathogenic
2	25161734	T	A	T25161734A	POMC	NM_000939.4(POMC):c.151A>T:p.Lys51Ter	coding	Pathogenic
2	25161754	T	G	T25161754G	POMC	NM_000939.4(POMC):c.133-2A>C	noncoding	Pathogenic
2	25164689	G	T	G25164689T	POMC	NM_000939.4(POMC):c.84C>A:p.Cys28Ter	coding	Pathogenic
2	25164783	G	T	G25164783T	POMC	NM_000939.4(POMC):c.-11C>A	noncoding	Pathogenic
2	25234307	G	A	G25234307A	DNMT3A	NM_022552.5(DNMT3A):c.2711C>T:p.Pro904Leu	coding	Pathogenic/Likely_pathogenic
2	25234313	A	G	A25234313G	DNMT3A	NM_022552.5(DNMT3A):c.2705T>C:p.Phe902Ser	coding	Pathogenic
2	25234330	T	C	T25234330C	DNMT3A	NM_022552.5(DNMT3A):c.2688A>G:p.Pro896=	coding	Benign
2	25234366	C	T	C25234366T	DNMT3A	NM_022552.5(DNMT3A):c.2652G>A:p.Ala884=	coding	Benign/Likely_benign
2	25234373	C	A	C25234373A	DNMT3A	NM_022552.5(DNMT3A):c.2645G>T:p.Arg882Leu	coding	Pathogenic
2	25234373	C	G	C25234373G	DNMT3A	NM_022552.5(DNMT3A):c.2645G>C:p.Arg882Pro	coding	Pathogenic/Likely_pathogenic
2	25234374	G	A	G25234374A	DNMT3A	NM_022552.5(DNMT3A):c.2644C>T:p.Arg882Cys	coding	Pathogenic
2	25234374	G	C	G25234374C	DNMT3A	NM_022552.5(DNMT3A):c.2644C>G:p.Arg882Gly	coding	Pathogenic
2	25234374	G	T	G25234374T	DNMT3A	NM_022552.5(DNMT3A):c.2644C>A:p.Arg882Ser	coding	Pathogenic
2	25235768	G	A	G25235768A	DNMT3A	NM_022552.5(DNMT3A):c.2536C>T:p.Gln846Ter	coding	Pathogenic
2	25239153	C	T	C25239153T	DNMT3A	NM_022552.5(DNMT3A):c.2385G>A:p.Trp795Ter	coding	Pathogenic
2	25240312	C	T	C25240312T	DNMT3A	NM_022552.5(DNMT3A):c.2312G>A:p.Arg771Gln	coding	Pathogenic
2	25240313	G	A	G25240313A	DNMT3A	NM_022552.5(DNMT3A):c.2311C>T:p.Arg771Ter	coding	Pathogenic
2	25240662	G	A	G25240662A	DNMT3A	NM_022552.5(DNMT3A):c.2151C>T:p.Asn717=	coding	Benign
2	25240667	C	T	C25240667T	DNMT3A	NM_022552.5(DNMT3A):c.2146G>A:p.Val716Ile	coding	Pathogenic
2	25241701	A	G	A25241701G	DNMT3A	NM_022552.5(DNMT3A):c.1943T>C:p.Leu648Pro	coding	Pathogenic
2	25241709	T	C	T25241709C	DNMT3A	NM_022552.5(DNMT3A):c.1937-2A>G	noncoding	Pathogenic
2	25244154	C	G	C25244154G	DNMT3A	NM_022552.5(DNMT3A):c.1851+1G>C	noncoding	Pathogenic
2	25244564	A	T	A25244564T	DNMT3A	NM_022552.5(DNMT3A):c.1643T>A:p.Met548Lys	coding	Pathogenic
2	25244599	G	C	G25244599C	DNMT3A	NM_022552.5(DNMT3A):c.1608C>G:p.Tyr536Ter	coding	Pathogenic
2	25246226	T	A	T25246226A	DNMT3A	NM_022552.5(DNMT3A):c.1363A>T:p.Lys455Ter	coding	Pathogenic
2	25246316	G	A	G25246316A	DNMT3A	NM_153759.3(DNMT3A):c.713-7C>T	noncoding	Benign
2	25246695	G	A	G25246695A	DNMT3A	NM_022552.5(DNMT3A):c.1204C>T:p.Gln402Ter	coding	Pathogenic
2	25246729	G	A	G25246729A	DNMT3A	NM_153759.3(DNMT3A):c.603C>T:p.Ser201=	coding	Benign
2	25246759	C	T	C25246759T	DNMT3A	NM_022552.5(DNMT3A):c.1140G>A:p.Ala380=	coding	Benign
2	25247608	C	T	C25247608T	DNMT3A	NM_153759.3(DNMT3A):c.430G>A:p.Asp144Asn	coding	Pathogenic
2	25247617	A	G	A25247617G	DNMT3A	NM_153759.3(DNMT3A):c.421T>C:p.Trp141Arg	coding	Pathogenic
2	25247647	G	A	G25247647A	DNMT3A	NM_022552.5(DNMT3A):c.958C>T:p.Arg320Ter	coding	Pathogenic
2	25247676	A	T	A25247676T	DNMT3A	NM_022552.5(DNMT3A):c.929T>A:p.Ile310Asn	coding	Pathogenic
2	25247713	C	A	C25247713A	DNMT3A	NM_022552.5(DNMT3A):c.892G>T:p.Gly298Trp	coding	Pathogenic
2	25248091	G	A	G25248091A	DNMT3A	NM_022552.5(DNMT3A):c.801C>T:p.Ser267=	coding	Benign
2	25248133	G	A	G25248133A	DNMT3A	NM_022552.5(DNMT3A):c.759C>T:p.Pro253=	coding	Benign
2	25274963	C	T	C25274963T	DNMT3A	NM_022552.5(DNMT3A):c.617G>A:p.Trp206Ter	coding	Pathogenic
2	25282702	C	T	C25282702T	DNMT3A	NM_175629.2(DNMT3A):c.187G>A:p.Gly63Ser	coding	Benign
2	25300196	C	T	C25300196T	DNMT3A	NM_175629.2(DNMT3A):c.120G>A:p.Glu40=	coding	Benign
2	25300227	T	G	T25300227G	DNMT3A	NM_022552.5(DNMT3A):c.89A>C:p.Glu30Ala	coding	Benign/Likely_benign
2	25313903	C	T	C25313903T	DNMT3A	NM_175629.2(DNMT3A):c.72+10G>A	noncoding	Benign
2	25343038	A	G	A25343038G	DNMT3A	NM_175629.2(DNMT3A):c.-786T>C	noncoding	Benign
2	25388233	G	A	G25388233A	DTNB	NM_021907.4(DTNB):c.1704C>T:p.Val568=	coding	Benign
2	25742149	C	T	C25742149T	ASXL2	NM_018263.6(ASXL2):c.4188G>A:p.Thr1396=	coding	Benign
2	25742226	G	T	G25742226T	ASXL2	NM_018263.6(ASXL2):c.4111C>A:p.Gln1371Lys	coding	Benign/Likely_benign
2	25742428	G	A	G25742428A	ASXL2	NM_018263.6(ASXL2):c.3909C>T:p.His1303=	coding	Benign
2	25742663	C	G	C25742663G	ASXL2	NM_018263.6(ASXL2):c.3674G>C:p.Cys1225Ser	coding	Benign
2	25743113	C	T	C25743113T	ASXL2	NM_018263.6(ASXL2):c.3224G>A:p.Arg1075Gln	coding	Benign
2	25743235	C	A	C25743235A	ASXL2	NM_018263.6(ASXL2):c.3102G>T:p.Arg1034Ser	coding	Benign
2	25743829	T	G	T25743829G	ASXL2	NM_018263.6(ASXL2):c.2508A>C:p.Thr836=	coding	Benign
2	25743945	T	C	T25743945C	ASXL2	NM_018263.6(ASXL2):c.2392A>G:p.Ile798Val	coding	Benign
2	25744303	G	A	G25744303A	ASXL2	NM_018263.6(ASXL2):c.2034C>T:p.Ala678=	coding	Benign
2	25744396	A	G	A25744396G	ASXL2	NM_018263.6(ASXL2):c.1941T>C:p.Thr647=	coding	Benign
2	25749784	C	T	C25749784T	ASXL2	NM_018263.6(ASXL2):c.1772G>A:p.Arg591His	coding	Benign
2	25750067	C	T	C25750067T	ASXL2	NM_018263.6(ASXL2):c.1489G>A:p.Ala497Thr	coding	Benign
2	25750104	C	T	C25750104T	ASXL2	NM_018263.6(ASXL2):c.1452G>A:p.Lys484=	coding	Benign
2	25750268	C	A	C25750268A	ASXL2	NM_018263.6(ASXL2):c.1288G>T:p.Glu430Ter	coding	Pathogenic
2	25750328	T	A	T25750328A	ASXL2	NM_018263.6(ASXL2):c.1228A>T:p.Lys410Ter	coding	Pathogenic
2	25768820	T	C	T25768820C	ASXL2	NM_018263.6(ASXL2):c.553A>G:p.Ser185Gly	coding	Benign
2	25799530	A	T	A25799530T	ASXL2	NM_018263.6(ASXL2):c.258T>A:p.Asp86Glu	coding	Benign
2	25845295	T	C	T25845295C	ASXL2	NM_018263.6(ASXL2):c.140+186A>G	noncoding	Benign/Likely_benign
2	26134940	C	A	C26134940A	RAB10	NM_016131.5(RAB10):c.522C>A:p.Thr174=	coding	Benign
2	26190689	G	A	G26190689A	HADHA	NM_000182.5(HADHA):c.*561C>T	noncoding	Benign
2	26190740	T	A	T26190740A	HADHA	NM_000182.5(HADHA):c.*510A>T	noncoding	Benign
2	26190919	A	G	A26190919G	HADHA	NM_000182.5(HADHA):c.*331T>C	noncoding	Benign
2	26190948	C	T	C26190948T	HADHA	NM_000182.5(HADHA):c.*302G>A	noncoding	Benign
2	26191048	C	T	C26191048T	HADHA	NM_000182.5(HADHA):c.*202G>A	noncoding	Benign
2	26191467	A	G	A26191467G	HADHA	NM_000182.5(HADHA):c.2146+16T>C	noncoding	Benign
2	26191482	C	T	C26191482T	HADHA	NM_000182.5(HADHA):c.2146+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	26191569	A	G	A26191569G	HADHA	NM_000182.5(HADHA):c.2060T>C:p.Met687Thr	coding	Benign
2	26191978	A	C	A26191978C	HADHA	NM_000182.5(HADHA):c.2000+332T>G	noncoding	Benign
2	26192020	C	T	C26192020T	HADHA	NM_000182.5(HADHA):c.2000+290G>A	noncoding	Benign
2	26192309	C	G	C26192309G	HADHA	NM_000182.5(HADHA):c.2000+1G>C	noncoding	Pathogenic/Likely_pathogenic
2	26192329	G	A	G26192329A	HADHA	NM_000182.5(HADHA):c.1981C>T:p.Leu661=	coding	Benign/Likely_benign
2	26192392	G	A	G26192392A	HADHA	NM_000182.5(HADHA):c.1918C>T:p.Gln640Ter	coding	Pathogenic
2	26192560	A	G	A26192560G	HADHA	NM_000182.5(HADHA):c.1886-136T>C	noncoding	Benign
2	26193432	A	G	A26193432G	HADHA	NM_000182.5(HADHA):c.1885+145T>C	noncoding	Benign
2	26193774	T	C	T26193774C	HADHA	NM_000182.5(HADHA):c.1690-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	26193778	C	T	C26193778T	HADHA	NM_000182.5(HADHA):c.1690-6G>A	noncoding	Benign
2	26193993	G	A	G26193993A	HADHA	NM_000182.5(HADHA):c.1690-221C>T	noncoding	Benign
2	26194568	A	C	A26194568C	HADHA	NM_000182.5(HADHA):c.1689+2T>G	noncoding	Pathogenic
2	26194581	G	A	G26194581A	HADHA	NM_000182.5(HADHA):c.1678C>T:p.Arg560Ter	coding	Pathogenic
2	26194960	G	A	G26194960A	HADHA	NM_000182.5(HADHA):c.1620+132C>T	noncoding	Benign
2	26195081	C	G	C26195081G	HADHA	NM_000182.5(HADHA):c.1620+11G>C	noncoding	Benign
2	26195184	C	G	C26195184G	HADHA	NM_000182.5(HADHA):c.1528G>C:p.Glu510Gln	coding	Pathogenic
2	26197839	T	G	T26197839G	HADHA	NM_000182.5(HADHA):c.1393-62A>C	noncoding	Benign
2	26197940	G	C	G26197940C	HADHA	NM_000182.5(HADHA):c.1393-163C>G	noncoding	Benign
2	26197971	C	T	C26197971T	HADHA	NM_000182.5(HADHA):c.1393-194G>A	noncoding	Benign
2	26201139	C	T	C26201139T	HADHA	NM_000182.5(HADHA):c.1392+10G>A	noncoding	Benign
2	26201515	G	A	G26201515A	HADHA	NM_000182.5(HADHA):c.1221-195C>T	noncoding	Benign
2	26204087	G	A	G26204087A	HADHA	NM_000182.5(HADHA):c.1195C>T:p.Arg399Ter	coding	Pathogenic/Likely_pathogenic
2	26209793	G	T	G26209793T	HADHA	NM_000182.5(HADHA):c.1072C>A:p.Gln358Lys	coding	Benign/Likely_benign
2	26209840	A	G	A26209840G	HADHA	NM_000182.5(HADHA):c.1025T>C:p.Leu342Pro	coding	Pathogenic
2	26212628	T	C	T26212628C	HADHA	NM_000182.5(HADHA):c.919-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	26214490	G	A	G26214490A	HADHA	NM_000182.5(HADHA):c.871C>T:p.Arg291Ter	coding	Pathogenic
2	26214516	A	T	A26214516T	HADHA	NM_000182.5(HADHA):c.845T>A:p.Val282Asp	coding	Pathogenic
2	26215407	T	C	T26215407C	HADHA	NM_000182.5(HADHA):c.677-232A>G	noncoding	Benign
2	26230190	A	G	A26230190G	HADHA	NM_000182.5(HADHA):c.676+2T>C	noncoding	Pathogenic
2	26232259	G	A	G26232259A	HADHA	NM_000182.5(HADHA):c.474C>T:p.Tyr158=	coding	Benign
2	26237204	C	T	C26237204T	HADHA	NM_000182.5(HADHA):c.181-216G>A	noncoding	Benign
2	26238865	C	G	C26238865G	HADHA	NM_000182.5(HADHA):c.180+69G>C	noncoding	Benign
2	26238931	T	C	T26238931C	HADHA	NM_000182.5(HADHA):c.180+3A>G	noncoding	Pathogenic
2	26238957	G	A	G26238957A	HADHA	NM_000182.5(HADHA):c.157C>T:p.Arg53Ter	coding	Pathogenic/Likely_pathogenic
2	26239082	T	C	T26239082C	HADHA	NM_000182.5(HADHA):c.109+20A>G	noncoding	Benign
2	26239153	A	C	A26239153C	HADHA	NM_000182.5(HADHA):c.68-10T>G	noncoding	Benign/Likely_benign
2	26244479	C	A	C26244479A	HADHA	NM_000182.5(HADHA):c.67+51G>T	noncoding	Benign
2	26244621	G	C	G26244621C	HADHA	NM_000182.5(HADHA):c.-25C>G	noncoding	Benign/Likely_benign
2	26244798	G	A	G26244798A	HADHA;HADHB	NM_001281512.1(HADHB):c.-201G>A	noncoding	Benign
2	26254109	A	G	A26254109G	HADHB	NM_000183.3(HADHB):c.-8-138A>G	noncoding	Benign
2	26254255	A	G	A26254255G	HADHB	NM_000183.3(HADHB):c.1A>G:p.Met1Val	coding	Pathogenic
2	26254782	G	A	G26254782A	HADHB	NM_000183.3(HADHB):c.109+308G>A	noncoding	Benign
2	26263405	G	A	G26263405A	HADHB	NM_000183.3(HADHB):c.135G>A:p.Thr45=	coding	Benign/Likely_benign
2	26269998	G	A	G26269998A	HADHB	NM_000183.3(HADHB):c.254+1G>A	coding	Pathogenic
2	26278521	C	T	C26278521T	HADHB	NM_000183.3(HADHB):c.443-93C>T	noncoding	Benign
2	26279189	C	T	C26279189T	HADHB	NM_000183.3(HADHB):c.685C>T:p.Arg229Ter	coding	Pathogenic
2	26279284	C	T	C26279284T	HADHB	NM_000183.3(HADHB):c.780C>T:p.Leu260=	coding	Benign
2	26279292	A	G	A26279292G	HADHB	NM_000183.3(HADHB):c.788A>G:p.Asp263Gly	coding	Pathogenic
2	26279989	A	T	A26279989T	HADHB	NM_000183.3(HADHB):c.812-5A>T	noncoding	Benign
2	26280007	T	C	T26280007C	HADHB	NM_000183.3(HADHB):c.825T>C:p.Val275=	coding	Benign
2	26280012	A	G	A26280012G	HADHB	NM_000183.3(HADHB):c.830A>G:p.Lys277Arg	coding	Benign
2	26280073	C	T	C26280073T	HADHB	NM_000183.3(HADHB):c.891C>T:p.Ile297=	coding	Benign
2	26282877	G	A	G26282877A	HADHB	NM_000183.3(HADHB):c.966G>A:p.Ala322=	coding	Benign
2	26282990	A	G	A26282990G	HADHB	NM_000183.3(HADHB):c.1014-14A>G	noncoding	Benign
2	26284208	A	T	A26284208T	HADHB	NM_000183.3(HADHB):c.1149+4A>T	noncoding	Benign
2	26284908	C	T	C26284908T	HADHB	NM_000183.3(HADHB):c.1175C>T:p.Ala392Val	coding	Pathogenic
2	26284939	C	G	C26284939G	HADHB	NM_000183.3(HADHB):c.1206C>G:p.Tyr402Ter	coding	Pathogenic
2	26285513	G	A	G26285513A	HADHB	NM_000183.3(HADHB):c.1331G>A:p.Arg444Lys	coding	Pathogenic
2	26285546	T	G	T26285546G	HADHB	NM_000183.3(HADHB):c.1364T>G:p.Val455Gly	coding	Pathogenic
2	26285553	G	A	G26285553A	HADHB	NM_000183.3(HADHB):c.1371G>A:p.Ala457=	coding	Benign/Likely_benign
2	26290005	A	G	A26290005G	HADHB	NM_000183.3(HADHB):c.*52A>G	noncoding	Benign
2	26290089	G	C	G26290089C	HADHB	NM_000183.3(HADHB):c.*136G>C	noncoding	Benign
2	26290149	A	G	A26290149G	HADHB	NM_000183.3(HADHB):c.*196A>G	noncoding	Benign
2	26290304	C	G	C26290304G	HADHB	NM_000183.3(HADHB):c.*351C>G	noncoding	Benign
2	26290439	G	A	G26290439A	HADHB	NM_000183.3(HADHB):c.*486G>A	noncoding	Benign
2	26373391	G	C	G26373391C	SELENOI	NM_033505.4(SELENOI):c.335G>C:p.Arg112Pro	coding	Pathogenic
2	26384957	A	G	A26384957G	SELENOI	NM_033505.4(SELENOI):c.732-2A>G	noncoding	Pathogenic
2	26386454	T	C	T26386454C	SELENOI	NM_033505.4(SELENOI):c.1013T>C:p.Val338Ala	coding	Benign
2	26389049	G	A	G26389049A	SELENOI	NM_033505.4(SELENOI):c.1140G>A:p.Leu380=	coding	Benign
2	26402025	G	C	G26402025C	DRC1	NM_145038.5(DRC1):c.36G>C:p.Pro12=	coding	Benign
2	26414360	T	C	T26414360C	DRC1	NM_145038.5(DRC1):c.172T>C:p.Tyr58His	coding	Benign
2	26424409	T	G	T26424409G	DRC1	NM_145038.5(DRC1):c.495T>G:p.Ala165=	coding	Benign
2	26440398	G	T	G26440398T	DRC1	NM_145038.5(DRC1):c.909G>T:p.Gln303His	coding	Benign
2	26440481	C	T	C26440481T	DRC1	NM_145038.5(DRC1):c.992C>T:p.Thr331Ile	coding	Benign
2	26444260	C	T	C26444260T	DRC1	NM_145038.5(DRC1):c.1067C>T:p.Ala356Val	coding	Benign
2	26444262	A	G	A26444262G	DRC1	NM_145038.5(DRC1):c.1069A>G:p.Lys357Glu	coding	Benign
2	26444747	T	C	T26444747C	DRC1	NM_145038.5(DRC1):c.1195T>C:p.Trp399Arg	coding	Benign
2	26444911	C	T	C26444911T	DRC1	NM_145038.5(DRC1):c.1359C>T:p.Ser453=	coding	Benign
2	26448676	A	G	A26448676G	DRC1	NM_145038.5(DRC1):c.1397-15A>G	noncoding	Benign
2	26448786	C	G	C26448786G	DRC1	NM_145038.5(DRC1):c.1492C>G:p.Leu498Val	coding	Benign
2	26453322	C	T	C26453322T	DRC1	NM_145038.5(DRC1):c.1692C>T:p.Ile564=	coding	Benign
2	26453340	G	A	G26453340A	DRC1	NM_145038.5(DRC1):c.1710G>A:p.Ala570=	coding	Benign
2	26453481	C	G	C26453481G	DRC1	NM_145038.5(DRC1):c.1851C>G:p.Pro617=	coding	Benign
2	26453527	G	T	G26453527T	DRC1	NM_145038.5(DRC1):c.1897G>T:p.Val633Phe	coding	Benign
2	26454703	C	T	C26454703T	DRC1	NM_145038.5(DRC1):c.1976C>T:p.Ser659Leu	coding	Benign
2	26454728	A	G	A26454728G	DRC1	NM_145038.5(DRC1):c.2001A>G:p.Thr667=	coding	Benign
2	26454783	A	T	A26454783T	DRC1	NM_145038.5(DRC1):c.2056A>T:p.Lys686Ter	coding	Pathogenic
2	26455137	C	T	C26455137T	DRC1	NM_145038.5(DRC1):c.2070C>T:p.Val690=	coding	Benign
2	26455214	A	C	A26455214C	DRC1	NM_145038.5(DRC1):c.2147A>C:p.Gln716Pro	coding	Benign
2	26456494	G	A	G26456494A	DRC1	NM_145038.5(DRC1):c.2200G>A:p.Val734Met	coding	Benign
2	26456517	A	C	A26456517C	DRC1	NM_145038.5(DRC1):c.2223A>C:p.Ter741Cys	coding	Benign
2	26456526	G	A	G26456526A	DRC1	NM_145038.5(DRC1):c.*9G>A	noncoding	Benign
2	26457541	C	T	C26457541T	OTOF	NM_194248.3(OTOF):c.*697G>A	noncoding	Benign
2	26457542	T	C	T26457542C	OTOF	NM_194248.3(OTOF):c.*696A>G	noncoding	Benign
2	26458042	A	G	A26458042G	OTOF	NM_194248.3(OTOF):c.*196T>C	coding	Pathogenic
2	26458074	G	C	G26458074C	OTOF	NM_194248.3(OTOF):c.*164C>G	coding	Pathogenic
2	26458218	C	T	C26458218T	OTOF	NM_194248.3(OTOF):c.*20G>A	coding	Pathogenic
2	26458219	G	A	G26458219A	OTOF	NM_194248.3(OTOF):c.*19C>T	coding	Pathogenic
2	26460059	G	C	G26460059C	OTOF	NM_194248.3(OTOF):c.5960C>G:p.Pro1987Arg	coding	Pathogenic
2	26460672	C	A	C26460672A	OTOF	NM_194248.3(OTOF):c.5788G>T:p.Glu1930Ter	coding	Pathogenic
2	26460746	C	A	C26460746A	OTOF	NM_194248.3(OTOF):c.5714G>T:p.Gly1905Val	coding	Pathogenic
2	26460851	C	T	C26460851T	OTOF	NM_194248.3(OTOF):c.5712+1G>A	noncoding	Pathogenic
2	26460901	C	T	C26460901T	OTOF	NM_194248.3(OTOF):c.5663G>A:p.Gly1888Asp	coding	Benign
2	26460909	G	A	G26460909A	OTOF	NM_194248.3(OTOF):c.5655C>T:p.Arg1885=	coding	Benign/Likely_benign
2	26460997	C	T	C26460997T	OTOF	NM_194248.3(OTOF):c.5567G>A:p.Arg1856Gln	coding	Pathogenic
2	26461756	G	C	G26461756C	OTOF	NM_194248.3(OTOF):c.5473C>G:p.Pro1825Ala	coding	Pathogenic
2	26461763	G	C	G26461763C	OTOF	NM_194248.3(OTOF):c.5466C>G:p.Tyr1822Ter	coding	Pathogenic
2	26461811	G	A	G26461811A	OTOF	NM_194248.3(OTOF):c.5418C>T:p.Ile1806=	coding	Benign
2	26461838	G	A	G26461838A	OTOF	NM_194248.3(OTOF):c.5391C>T:p.Phe1797=	coding	Benign
2	26461845	A	C	A26461845C	OTOF	NM_194248.3(OTOF):c.5384T>G:p.Phe1795Cys	coding	Pathogenic
2	26462177	C	T	C26462177T	OTOF	NM_194248.3(OTOF):c.5197G>A:p.Glu1733Lys	coding	Pathogenic
2	26463970	G	A	G26463970A	OTOF	NM_194248.3(OTOF):c.5097C>T:p.Ile1699=	coding	Benign
2	26464041	G	A	G26464041A	OTOF	NM_194248.3(OTOF):c.5026C>T:p.Arg1676Cys	coding	Benign/Likely_benign
2	26464087	G	A	G26464087A	OTOF	NM_194248.3(OTOF):c.4980C>T:p.Asp1660=	coding	Benign/Likely_benign
2	26464868	C	G	C26464868G	OTOF	NM_194248.3(OTOF):c.4960+1G>C	noncoding	Pathogenic
2	26464893	G	A	G26464893A	OTOF	NM_194248.3(OTOF):c.4936C>T:p.Pro1646Ser	coding	Benign
2	26464956	C	T	C26464956T	OTOF	NM_194248.3(OTOF):c.4873G>A:p.Val1625Met	coding	Benign
2	26465020	G	T	G26465020T	OTOF	NM_194248.3(OTOF):c.4809C>A:p.Tyr1603Ter	coding	Pathogenic
2	26465656	C	T	C26465656T	OTOF	NM_194248.3(OTOF):c.4799+16G>A	noncoding	Benign
2	26465671	C	T	C26465671T	OTOF	NM_194248.3(OTOF):c.4799+1G>A	noncoding	Pathogenic
2	26465704	G	A	G26465704A	OTOF	NM_194248.3(OTOF):c.4767C>T:p.Arg1589=	coding	Benign/Likely_benign
2	26465724	G	A	G26465724A	OTOF	NM_194248.3(OTOF):c.4747C>T:p.Arg1583Cys	coding	Pathogenic
2	26465794	C	T	C26465794T	OTOF	NM_194248.3(OTOF):c.4677G>A:p.Val1559=	coding	Benign/Likely_benign
2	26465851	G	A	G26465851A	OTOF	NM_194248.3(OTOF):c.4629-9C>T	noncoding	Benign/Likely_benign
2	26466712	A	C	A26466712C	OTOF	NM_194248.3(OTOF):c.4500+2T>G	noncoding	Pathogenic
2	26466723	A	T	A26466723T	OTOF	NM_194248.3(OTOF):c.4491T>A:p.Tyr1497Ter	coding	Pathogenic
2	26466731	G	A	G26466731A	OTOF	NM_194248.3(OTOF):c.4483C>T:p.Arg1495Ter	coding	Pathogenic
2	26467098	C	G	C26467098G	OTOF	NM_194248.3(OTOF):c.4362+1G>C	noncoding	Pathogenic
2	26467110	C	A	C26467110A	OTOF	NM_194248.3(OTOF):c.4351G>T:p.Gly1451Ter	coding	Pathogenic
2	26467120	C	T	C26467120T	OTOF	NM_194248.3(OTOF):c.4341G>A:p.Glu1447=	coding	Benign
2	26467186	C	T	C26467186T	OTOF	NM_194248.3(OTOF):c.4275G>A:p.Trp1425Ter	coding	Pathogenic
2	26467364	C	A	C26467364A	OTOF	NM_194248.3(OTOF):c.4227+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	26467435	G	A	G26467435A	OTOF	NM_194248.3(OTOF):c.4157C>T:p.Thr1386Ile	coding	Pathogenic
2	26468468	G	A	G26468468A	OTOF	NM_194248.3(OTOF):c.4030C>T:p.Arg1344Ter	coding	Pathogenic
2	26471099	C	T	C26471099T	OTOF	NM_194248.3(OTOF):c.3894+22G>A	noncoding	Benign
2	26472518	C	T	C26472518T	OTOF	NM_194248.3(OTOF):c.3864+1G>A	noncoding	Pathogenic
2	26472632	A	C	A26472632C	OTOF	NM_194248.3(OTOF):c.3751T>G:p.Cys1251Gly	coding	Benign/Likely_benign
2	26473257	T	C	T26473257C	OTOF	NM_194248.3(OTOF):c.3608A>G:p.Asn1203Ser	coding	Benign/Likely_benign
2	26473296	T	G	T26473296G	OTOF	NM_194248.3(OTOF):c.3571-2A>C	noncoding	Pathogenic
2	26473563	A	G	A26473563G	OTOF	NM_194248.3(OTOF):c.3413T>C:p.Leu1138Pro	coding	Pathogenic
2	26473999	G	A	G26473999A	OTOF	NM_194248.3(OTOF):c.3400C>T:p.Arg1134Ter	coding	Pathogenic
2	26474015	G	A	G26474015A	OTOF	NM_194248.3(OTOF):c.3384C>T:p.Pro1128=	coding	Benign/Likely_benign
2	26474532	G	T	G26474532T	OTOF	NM_194248.3(OTOF):c.3269C>A:p.Ala1090Glu	coding	Pathogenic
2	26474554	C	G	C26474554G	OTOF	NM_194248.3(OTOF):c.3247G>C:p.Ala1083Pro	coding	Benign/Likely_benign
2	26474562	C	G	C26474562G	OTOF	NM_194248.3(OTOF):c.3239G>C:p.Arg1080Pro	coding	Pathogenic
2	26475409	T	A	T26475409A	OTOF	NM_194248.3(OTOF):c.3076A>T:p.Arg1026Trp	coding	Benign
2	26475453	A	G	A26475453G	OTOF	NM_194248.3(OTOF):c.3032T>C:p.Leu1011Pro	coding	Pathogenic
2	26475912	A	C	A26475912C	OTOF	NM_194248.3(OTOF):c.2991+2T>G	noncoding	Pathogenic
2	26475913	C	T	C26475913T	OTOF	NM_194248.3(OTOF):c.2991+1G>A	noncoding	Pathogenic
2	26475916	C	A	C26475916A	OTOF	NM_194248.3(OTOF):c.2989G>T:p.Glu997Ter	coding	Pathogenic
2	26476014	G	T	G26476014T	OTOF	NM_194248.3(OTOF):c.2891C>A:p.Ala964Glu	coding	Pathogenic
2	26476018	G	A	G26476018A	OTOF	NM_194248.3(OTOF):c.2887C>T:p.Arg963Ter	coding	Pathogenic
2	26476165	G	A	G26476165A	OTOF	NM_194248.3(OTOF):c.2829C>T:p.Gly943=	coding	Benign/Likely_benign
2	26476176	G	A	G26476176A	OTOF	NM_194248.3(OTOF):c.2818C>T:p.Gln940Ter	coding	Pathogenic
2	26476258	C	G	C26476258G	OTOF	NM_194248.3(OTOF):c.2736G>C:p.Leu912=	coding	Benign
2	26476291	C	T	C26476291T	OTOF	NM_194248.3(OTOF):c.2703G>A:p.Ser901=	coding	Benign/Likely_benign
2	26476918	G	T	G26476918T	OTOF	NM_194248.3(OTOF):c.2649C>A:p.Cys883Ter	coding	Pathogenic
2	26476954	G	A	G26476954A	OTOF	NM_194248.3(OTOF):c.2613C>T:p.Leu871=	coding	Benign/Likely_benign
2	26476987	G	C	G26476987C	OTOF	NM_194248.3(OTOF):c.2580C>G:p.Val860=	coding	Benign
2	26477210	G	A	G26477210A	OTOF	NM_194248.3(OTOF):c.2485C>T:p.Gln829Ter	coding	Pathogenic
2	26477231	G	A	G26477231A	OTOF	NM_194248.3(OTOF):c.2464C>T:p.Arg822Trp	coding	Benign/Likely_benign
2	26477380	C	T	C26477380T	OTOF	NM_194248.3(OTOF):c.2406+36G>A	noncoding	Benign
2	26477420	T	A	T26477420A	OTOF	NM_194248.3(OTOF):c.2402A>T:p.Glu801Val	coding	Benign/Likely_benign
2	26477421	C	A	C26477421A	OTOF	NM_194248.3(OTOF):c.2401G>T:p.Glu801Ter	coding	Benign/Likely_benign
2	26477505	G	A	G26477505A	OTOF	NM_194248.3(OTOF):c.2317C>T:p.Arg773Cys	coding	Benign/Likely_benign
2	26477506	G	T	G26477506T	OTOF	NM_194248.3(OTOF):c.2316C>A:p.Cys772Ter	coding	Pathogenic
2	26477633	G	A	G26477633A	OTOF	NM_194248.3(OTOF):c.2315+16C>T	noncoding	Benign
2	26477725	C	A	C26477725A	OTOF	NM_194248.3(OTOF):c.2239G>T:p.Glu747Ter	coding	Pathogenic
2	26477768	G	C	G26477768C	OTOF	NM_194248.3(OTOF):c.2215-19C>G	coding	Benign/Likely_benign
2	26477826	A	C	A26477826C	OTOF	NM_194248.3(OTOF):c.2215-77T>G	coding	Benign/Likely_benign
2	26477832	G	A	G26477832A	OTOF	NM_194248.3(OTOF):c.2215-83C>T	coding	Benign
2	26477904	T	C	T26477904C	OTOF	NM_194248.3(OTOF):c.2215-155A>G	coding	Benign/Likely_benign
2	26479263	C	A	C26479263A	OTOF	NM_194248.3(OTOF):c.2214+1G>T	noncoding	Pathogenic
2	26479325	C	T	C26479325T	OTOF	NM_194248.3(OTOF):c.2153G>A:p.Trp718Ter	coding	Pathogenic
2	26479356	G	A	G26479356A	OTOF	NM_194248.3(OTOF):c.2122C>T:p.Arg708Ter	coding	Pathogenic
2	26479541	C	T	C26479541T	OTOF	NM_194248.3(OTOF):c.2025G>A:p.Glu675=	coding	Benign/Likely_benign
2	26479544	G	A	G26479544A	OTOF	NM_194248.3(OTOF):c.2022C>T:p.Asp674=	coding	Benign/Likely_benign
2	26479640	G	A	G26479640A	OTOF	NM_194248.3(OTOF):c.1926C>T:p.Asn642=	coding	Benign/Likely_benign
2	26480211	A	T	A26480211T	OTOF	NM_194248.3(OTOF):c.1904T>A:p.Val635Asp	coding	Pathogenic
2	26480274	C	T	C26480274T	OTOF	NM_194248.3(OTOF):c.1841G>A:p.Gly614Glu	coding	Pathogenic
2	26480788	C	A	C26480788A	OTOF	NM_194248.3(OTOF):c.1801G>T:p.Glu601Ter	coding	Pathogenic
2	26480809	C	T	C26480809T	OTOF	NM_194248.3(OTOF):c.1780G>A:p.Glu594Lys	coding	Pathogenic
2	26480866	C	T	C26480866T	OTOF	NM_194248.3(OTOF):c.1723G>A:p.Val575Met	coding	Benign
2	26480871	A	C	A26480871C	OTOF	NM_194248.3(OTOF):c.1718T>G:p.Leu573Arg	coding	Pathogenic
2	26480968	C	T	C26480968T	OTOF	NM_194248.3(OTOF):c.1621G>A:p.Gly541Ser	coding	Pathogenic
2	26480982	C	T	C26480982T	OTOF	NM_194248.3(OTOF):c.1607G>A:p.Trp536Ter	coding	Pathogenic
2	26481015	G	A	G26481015A	OTOF	NM_194248.3(OTOF):c.1580-6C>T	noncoding	Benign
2	26481016	C	A	C26481016A	OTOF	NM_194248.3(OTOF):c.1580-7G>T	noncoding	Benign
2	26482435	A	G	A26482435G	OTOF	NM_194248.3(OTOF):c.1550T>C:p.Leu517Pro	coding	Pathogenic
2	26482479	C	T	C26482479T	OTOF	NM_194248.3(OTOF):c.1506G>A:p.Ser502=	coding	Benign/Likely_benign
2	26482516	G	T	G26482516T	OTOF	NM_194248.3(OTOF):c.1469C>A:p.Pro490Gln	coding	Pathogenic
2	26482563	A	T	A26482563T	OTOF	NM_194248.3(OTOF):c.1422T>A:p.Tyr474Ter	coding	Pathogenic
2	26483581	G	A	G26483581A	OTOF	NM_194248.3(OTOF):c.1273C>T:p.Arg425Ter	coding	Pathogenic
2	26484494	G	A	G26484494A	OTOF	NM_194248.3(OTOF):c.1185C>T:p.Thr395=	coding	Benign/Likely_benign
2	26484568	C	G	C26484568G	OTOF	NM_194248.3(OTOF):c.1111G>C:p.Gly371Arg	coding	Pathogenic
2	26484628	G	A	G26484628A	OTOF	NM_194248.3(OTOF):c.1051C>T:p.Gln351Ter	coding	Pathogenic
2	26484725	T	A	T26484725A	OTOF	NM_194248.3(OTOF):c.1046-92A>T	noncoding	Benign
2	26489693	C	T	C26489693T	OTOF	NM_194248.3(OTOF):c.945G>A:p.Lys315=	coding	Benign/Likely_benign
2	26494937	C	T	C26494937T	OTOF	NM_194248.3(OTOF):c.897+5G>A	noncoding	Pathogenic
2	26495075	T	C	T26495075C	OTOF	NM_194248.3(OTOF):c.766-2A>G	noncoding	Pathogenic
2	26495076	G	A	G26495076A	OTOF	NM_194248.3(OTOF):c.766-3C>T	noncoding	Benign
2	26501754	C	G	C26501754G	OTOF	NM_194248.3(OTOF):c.765G>C:p.Gln255His	coding	Pathogenic
2	26502301	G	A	G26502301A	OTOF	NM_194248.3(OTOF):c.709C>T:p.Arg237Ter	coding	Pathogenic
2	26516408	T	C	T26516408C	OTOF	NM_194248.3(OTOF):c.509+10A>G	noncoding	Benign/Likely_benign
2	26516555	T	C	T26516555C	OTOF	NM_194248.3(OTOF):c.372A>G:p.Thr124=	coding	Benign
2	26516560	C	T	C26516560T	OTOF	NM_194248.3(OTOF):c.367G>A:p.Gly123Ser	coding	Benign/Likely_benign
2	26516658	A	G	A26516658G	OTOF	NM_194248.3(OTOF):c.328-59T>C	noncoding	Benign
2	26519093	G	A	G26519093A	OTOF	NM_194248.3(OTOF):c.244C>T:p.Arg82Cys	coding	Benign
2	26527901	G	A	G26527901A	OTOF	NM_194248.3(OTOF):c.158C>T:p.Ala53Val	coding	Benign
2	26527914	G	A	G26527914A	OTOF	NM_194248.3(OTOF):c.145C>T:p.Arg49Trp	coding	Benign/Likely_benign
2	26537688	A	C	A26537688C	OTOF	NM_194248.3(OTOF):c.138+28T>G	noncoding	Benign
2	26537725	G	A	G26537725A	OTOF	NM_194248.3(OTOF):c.129C>T:p.Asp43=	coding	Benign
2	26558530	C	T	C26558530T	OTOF	NM_194248.3(OTOF):c.42G>A:p.Arg14=	coding	Benign/Likely_benign
2	26558535	G	A	G26558535A	OTOF	NM_194248.3(OTOF):c.37C>T:p.Leu13=	coding	Benign
2	26558691	C	A	C26558691A	OTOF	NM_194248.3(OTOF):c.-120G>T	noncoding	Benign/Likely_benign
2	26692898	C	A	C26692898A	KCNK3	NM_002246.3(KCNK3):c.23C>A:p.Thr8Lys	coding	Pathogenic
2	26727672	G	A	G26727672A	KCNK3	NM_002246.3(KCNK3):c.289G>A:p.Gly97Arg	coding	Pathogenic
2	26727927	G	A	G26727927A	KCNK3	NM_002246.3(KCNK3):c.544G>A:p.Glu182Lys	coding	Pathogenic
2	26727958	A	G	A26727958G	KCNK3	NM_002246.3(KCNK3):c.575A>G:p.Tyr192Cys	coding	Pathogenic
2	26727991	G	A	G26727991A	KCNK3	NM_002246.3(KCNK3):c.608G>A:p.Gly203Asp	coding	Pathogenic
2	26728037	G	T	G26728037T	KCNK3	NM_002246.3(KCNK3):c.654G>T:p.Pro218=	coding	Benign
2	26728044	G	C	G26728044C	KCNK3	NM_002246.3(KCNK3):c.661G>C:p.Val221Leu	coding	Pathogenic
2	26728336	G	A	G26728336A	KCNK3	NM_002246.3(KCNK3):c.953G>A:p.Arg318His	coding	Benign
2	26728581	G	A	G26728581A	KCNK3	NM_002246.3(KCNK3):c.*13G>A	noncoding	Benign
2	26928290	C	T	C26928290T	DPYSL5	NM_020134.4(DPYSL5):c.636C>T:p.Gly212=	coding	Benign
2	26934742	G	A	G26934742A	DPYSL5	NM_020134.4(DPYSL5):c.947+8G>A	noncoding	Benign
2	27037672	C	A	C27037672A	TMEM214	NM_017727.5(TMEM214):c.1122C>A:p.Thr374=	coding	Benign
2	27038515	G	C	G27038515C	TMEM214	NM_017727.5(TMEM214):c.1276G>C:p.Glu426Gln	coding	Benign
2	27038749	C	T	C27038749T	TMEM214	NM_017727.5(TMEM214):c.1341C>T:p.Asn447=	coding	Benign
2	27054682	G	A	G27054682A	AGBL5	NM_021831.6(AGBL5):c.604G>A:p.Gly202Arg	coding	Benign
2	27055125	T	C	T27055125C	AGBL5	NM_021831.6(AGBL5):c.780T>C:p.Phe260=	coding	Benign
2	27055171	C	T	C27055171T	AGBL5	NM_021831.6(AGBL5):c.826C>T:p.Arg276Trp	coding	Pathogenic
2	27055228	G	A	G27055228A	AGBL5	NM_021831.6(AGBL5):c.883G>A:p.Asp295Asn	coding	Pathogenic
2	27055718	C	T	C27055718T	AGBL5	NM_021831.6(AGBL5):c.945C>T:p.Tyr315=	coding	Benign
2	27059261	G	A	G27059261A	AGBL5	NM_021831.6(AGBL5):c.1946G>A:p.Gly649Asp	coding	Benign
2	27059361	T	A	T27059361A	AGBL5	NM_021831.6(AGBL5):c.2046T>A:p.Ser682=	coding	Benign
2	27059398	G	A	G27059398A	AGBL5	NM_021831.6(AGBL5):c.2083G>A:p.Val695Ile	coding	Benign
2	27067505	C	T	C27067505T	AGBL5	NM_021831.6(AGBL5):c.2101C>T:p.Gln701Ter	coding	Pathogenic
2	27069592	G	A	G27069592A	AGBL5	NM_021831.6(AGBL5):c.2375G>A:p.Arg792Gln	coding	Benign
2	27082373	A	G	A27082373G	EMILIN1	NM_007046.4(EMILIN1):c.802A>G:p.Ser268Gly	coding	Benign
2	27083178	A	G	A27083178G	EMILIN1	NM_007046.4(EMILIN1):c.1607A>G:p.Gln536Arg	coding	Benign
2	27083587	C	T	C27083587T	EMILIN1	NM_007046.4(EMILIN1):c.2016C>T:p.Gly672=	coding	Benign
2	27086791	A	C	A27086791C	KHK	NM_006488.3(KHK):c.-469A>C	noncoding	Benign
2	27086811	T	G	T27086811G	KHK	NM_006488.3(KHK):c.-449T>G	noncoding	Benign
2	27086816	C	A	C27086816A	KHK	NM_006488.3(KHK):c.-444C>A	noncoding	Benign
2	27086936	C	T	C27086936T	KHK	NM_006488.3(KHK):c.-324C>T	noncoding	Benign
2	27087015	G	A	G27087015A	KHK	NM_006488.3(KHK):c.-245G>A	noncoding	Benign
2	27092384	G	A	G27092384A	KHK	NM_006488.3(KHK):c.145G>A:p.Val49Ile	coding	Benign
2	27092398	C	T	C27092398T	KHK	NM_006488.3(KHK):c.159C>T:p.Leu53=	coding	Benign
2	27094472	A	G	A27094472G	KHK	NM_006488.3(KHK):c.210-328A>G	noncoding	Benign
2	27099411	G	A	G27099411A	KHK	NM_006488.3(KHK):c.654-9G>A	coding	Benign
2	27099582	G	C	G27099582C	KHK	NM_006488.3(KHK):c.811+5G>C	coding	Benign
2	27099732	C	A	C27099732A	KHK	NM_006488.3(KHK):c.879C>A:p.Gly293=	coding	Benign
2	27099829	G	A	G27099829A	KHK	NM_006488.3(KHK):c.*79G>A	coding	Benign
2	27100255	G	A	G27100255A	KHK	NM_006488.3(KHK):c.*505G>A	coding	Benign
2	27100290	G	C	G27100290C	KHK	NM_006488.3(KHK):c.*540G>C	coding	Benign
2	27100304	C	T	C27100304T	KHK	NM_006488.3(KHK):c.*554C>T	coding	Benign
2	27100330	T	C	T27100330C	KHK	NM_006488.3(KHK):c.*580T>C	coding	Benign
2	27100504	T	C	T27100504C	KHK	NM_006488.3(KHK):c.*754T>C	coding	Benign
2	27100517	C	T	C27100517T	KHK	NM_006488.3(KHK):c.*767C>T	coding	Benign
2	27100556	G	A	G27100556A	KHK	NM_006488.3(KHK):c.*806G>A	coding	Benign
2	27100758	G	A	G27100758A	KHK	NM_006488.3(KHK):c.*1008G>A	coding	Benign
2	27100759	T	G	T27100759G	KHK	NM_006488.3(KHK):c.*1009T>G	coding	Benign
2	27201040	C	T	C27201040T	SLC5A6	NM_021095.4(SLC5A6):c.1722G>A:p.Pro574=	coding	Benign
2	27201735	C	T	C27201735T	SLC5A6	NM_021095.4(SLC5A6):c.1475G>A:p.Ser492Asn	coding	Benign
2	27201785	G	A	G27201785A	SLC5A6	NM_021095.4(SLC5A6):c.1425C>T:p.Ile475=	coding	Benign
2	27203241	C	G	C27203241G	SLC5A6	NM_021095.4(SLC5A6):c.1199G>C:p.Arg400Thr	coding	Pathogenic
2	27205370	G	A	G27205370A	SLC5A6	NM_021095.4(SLC5A6):c.714C>T:p.His238=	coding	Benign
2	27207283	C	A	C27207283A	SLC5A6	NM_021095.4(SLC5A6):c.368G>T:p.Arg123Leu	coding	Pathogenic
2	27207371	G	A	G27207371A	SLC5A6	NM_021095.4(SLC5A6):c.280C>T:p.Arg94Ter	coding	Pathogenic
2	27207441	C	T	C27207441T	SLC5A6	NM_021095.4(SLC5A6):c.210G>A:p.Pro70=	coding	Benign
2	27217892	T	G	T27217892G	CAD	NM_004341.5(CAD):c.98T>G:p.Met33Arg	coding	Pathogenic/Likely_pathogenic
2	27217917	T	C	T27217917C	CAD	NM_004341.5(CAD):c.123T>C:p.Thr41=	coding	Benign
2	27222594	C	T	C27222594T	CAD	NM_004341.5(CAD):c.571C>T:p.Arg191Ter	coding	Pathogenic
2	27224004	A	G	A27224004G	CAD	NM_004341.5(CAD):c.1083A>G:p.Thr361=	coding	Benign/Likely_benign
2	27224341	A	G	A27224341G	CAD	NM_004341.5(CAD):c.1109-4A>G	noncoding	Benign
2	27225716	C	T	C27225716T	CAD	NM_004341.5(CAD):c.1632C>T:p.Ala544=	coding	Benign
2	27226130	G	A	G27226130A	CAD	NM_004341.5(CAD):c.1843-1G>A	noncoding	Pathogenic
2	27226572	G	A	G27226572A	CAD	NM_004341.5(CAD):c.2079G>A:p.Leu693=	coding	Benign
2	27232076	G	A	G27232076A	CAD	NM_004341.5(CAD):c.2497G>A:p.Asp833Asn	coding	Benign
2	27232156	G	A	G27232156A	CAD	NM_004341.5(CAD):c.2577G>A:p.Pro859=	coding	Benign
2	27232550	C	T	C27232550T	CAD	NM_004341.5(CAD):c.2748C>T:p.Tyr916=	coding	Benign
2	27233407	G	T	G27233407T	CAD	NM_004341.5(CAD):c.3087G>T:p.Arg1029=	coding	Benign
2	27233482	C	T	C27233482T	CAD	NM_004341.5(CAD):c.3162C>T:p.Leu1054=	coding	Benign
2	27233506	G	A	G27233506A	CAD	NM_004341.5(CAD):c.3186G>A:p.Gln1062=	coding	Benign
2	27234001	C	T	C27234001T	CAD	NM_004341.5(CAD):c.3400-7C>T	noncoding	Benign
2	27234145	G	A	G27234145A	CAD	NM_004341.5(CAD):c.3537G>A:p.Leu1179=	coding	Benign
2	27235541	A	G	A27235541G	CAD	NM_004341.5(CAD):c.3975A>G:p.Lys1325=	coding	Benign
2	27235631	T	C	T27235631C	CAD	NM_004341.5(CAD):c.4065T>C:p.His1355=	coding	Benign
2	27237750	G	A	G27237750A	CAD	NM_004341.5(CAD):c.4596G>A:p.Ala1532=	coding	Benign
2	27237801	C	T	C27237801T	CAD	NM_004341.5(CAD):c.4647C>T:p.Ala1549=	coding	Benign
2	27237864	C	T	C27237864T	CAD	NM_004341.5(CAD):c.4710C>T:p.Ser1570=	coding	Benign
2	27238436	G	A	G27238436A	CAD	NM_004341.5(CAD):c.4866G>A:p.Leu1622=	coding	Benign
2	27238472	G	A	G27238472A	CAD	NM_004341.5(CAD):c.4902G>A:p.Val1634=	coding	Benign
2	27238628	C	T	C27238628T	CAD	NM_004341.5(CAD):c.5058C>T:p.Asp1686=	coding	Benign
2	27239442	C	T	C27239442T	CAD	NM_004341.5(CAD):c.5365C>T:p.Arg1789Ter	coding	Pathogenic
2	27242098	G	A	G27242098A	CAD	NM_004341.5(CAD):c.6071G>A:p.Arg2024Gln	coding	Pathogenic
2	27242307	C	T	C27242307T	CAD	NM_004341.5(CAD):c.6102C>T:p.Ala2034=	coding	Benign
2	27256387	G	T	G27256387T	SLC30A3	NM_003459.5(SLC30A3):c.1017C>A:p.Ile339=	coding	Benign
2	27258793	G	A	G27258793A	SLC30A3	NM_003459.5(SLC30A3):c.237C>T:p.Ala79=	coding	Benign
2	27304982	G	A	G27304982A	TRIM54	NM_187841.3(TRIM54):c.537G>A:p.Ala179=	coding	Benign
2	27309945	G	T	G27309945T	MPV17	NM_002437.5(MPV17):c.498C>A:p.Asn166Lys	coding	Pathogenic
2	27309958	G	T	G27309958T	MPV17	NM_002437.5(MPV17):c.485C>A:p.Ala162Asp	coding	Pathogenic
2	27311897	A	G	A27311897G	MPV17	NM_002437.5(MPV17):c.461+2T>C	noncoding	Pathogenic
2	27311916	C	T	C27311916T	MPV17	NM_002437.5(MPV17):c.444G>A:p.Leu148=	coding	Benign/Likely_benign
2	27311952	C	G	C27311952G	MPV17	NM_002437.5(MPV17):c.409-1G>C	coding	Pathogenic
2	27312247	C	T	C27312247T	MPV17	NM_002437.5(MPV17):c.376-1G>A	coding	Pathogenic
2	27312248	T	G	T27312248G	MPV17	NM_002437.5(MPV17):c.376-2A>C	noncoding	Pathogenic
2	27312499	G	A	G27312499A	MPV17	NM_002437.5(MPV17):c.370C>T:p.Gln124Ter	coding	Pathogenic
2	27312576	G	A	G27312576A	MPV17	NM_002437.5(MPV17):c.293C>T:p.Pro98Leu	coding	Pathogenic
2	27312589	C	G	C27312589G	MPV17	NM_002437.5(MPV17):c.280G>C:p.Gly94Arg	coding	Pathogenic
2	27312679	C	A	C27312679A	MPV17	NM_002437.5(MPV17):c.279+1G>T	noncoding	Pathogenic
2	27312697	T	C	T27312697C	MPV17	NM_002437.5(MPV17):c.262A>G:p.Lys88Glu	coding	Pathogenic
2	27312753	C	T	C27312753T	MPV17	NM_002437.5(MPV17):c.206G>A:p.Trp69Ter	coding	Pathogenic/Likely_pathogenic
2	27312768	G	C	G27312768C	MPV17	NM_002437.5(MPV17):c.191C>G:p.Pro64Arg	coding	Pathogenic/Likely_pathogenic
2	27312992	A	G	A27312992G	MPV17	NM_002437.5(MPV17):c.186+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	27313031	C	T	C27313031T	MPV17	NM_002437.5(MPV17):c.149G>A:p.Arg50Gln	coding	Pathogenic
2	27313032	G	A	G27313032A	MPV17	NM_002437.5(MPV17):c.148C>T:p.Arg50Trp	coding	Pathogenic
2	27313058	C	T	C27313058T	MPV17	NM_002437.5(MPV17):c.122G>A:p.Arg41Gln	coding	Pathogenic/Likely_pathogenic
2	27313074	G	A	G27313074A	MPV17	NM_002437.5(MPV17):c.106C>T:p.Gln36Ter	coding	Pathogenic
2	27322443	C	T	C27322443T	MPV17	NM_002437.5(MPV17):c.70+5G>A	noncoding	Pathogenic
2	27322496	G	A	G27322496A	MPV17	NM_002437.5(MPV17):c.22C>T:p.Gln8Ter	coding	Pathogenic
2	27322540	G	C	G27322540C	MPV17	NM_002437.5(MPV17):c.-5-18C>G	noncoding	Benign
2	27364399	G	A	G27364399A	EIF2B4	NM_015636.3(EIF2B4):c.*1C>T	noncoding	Benign
2	27364507	A	G	A27364507G	EIF2B4	NM_015636.3(EIF2B4):c.1462T>C:p.Tyr488His	coding	Pathogenic
2	27364579	A	G	A27364579G	EIF2B4	NM_015636.3(EIF2B4):c.1390T>C:p.Cys464Arg	coding	Pathogenic
2	27364580	T	C	T27364580C	EIF2B4	NM_015636.3(EIF2B4):c.1389A>G:p.Gln463=	coding	Benign/Likely_benign
2	27364705	T	G	T27364705G	EIF2B4	NM_015636.3(EIF2B4):c.1369+13A>C	noncoding	Benign
2	27364857	G	A	G27364857A	EIF2B4	NM_015636.3(EIF2B4):c.1230C>T:p.Asn410=	coding	Benign
2	27366758	C	T	C27366758T	EIF2B4	NM_015636.3(EIF2B4):c.1188+1G>A	noncoding	Pathogenic
2	27366830	G	A	G27366830A	EIF2B4	NM_015636.3(EIF2B4):c.1117C>T:p.Arg373Cys	coding	Pathogenic
2	27366943	T	C	T27366943C	EIF2B4	NM_015636.3(EIF2B4):c.1011-7A>G	noncoding	Benign
2	27367149	A	G	A27367149G	EIF2B4	NM_015636.3(EIF2B4):c.935T>C:p.Val312Ala	coding	Benign/Likely_benign
2	27367171	G	C	G27367171C	EIF2B4	NM_015636.3(EIF2B4):c.913C>G:p.Arg305Gly	coding	Benign
2	27367799	C	T	C27367799T	EIF2B4	NM_015636.3(EIF2B4):c.726G>A:p.Pro242=	coding	Benign
2	27368047	G	A	G27368047A	EIF2B4	NM_015636.3(EIF2B4):c.680C>T:p.Ala227Val	coding	Pathogenic
2	27368723	A	G	A27368723G	EIF2B4	NM_001034116.2(EIF2B4):c.429T>C:p.Arg143=	coding	Benign
2	27369556	C	T	C27369556T	EIF2B4	NM_015636.3(EIF2B4):c.76-7G>A	noncoding	Benign
2	27370288	G	A	G27370288A	EIF2B4	NM_001034116.2(EIF2B4):c.27C>T:p.Arg9=	coding	Benign
2	27377372	G	A	G27377372A	ZNF513	NM_144631.6(ZNF513):c.*173C>T	noncoding	Benign/Likely_benign
2	27378007	G	A	G27378007A	ZNF513	NM_144631.6(ZNF513):c.1164C>T:p.Phe388=	coding	Benign/Likely_benign
2	27378028	T	C	T27378028C	ZNF513	NM_144631.6(ZNF513):c.1143A>G:p.Thr381=	coding	Benign
2	27378572	G	A	G27378572A	ZNF513	NM_144631.6(ZNF513):c.694C>T:p.Pro232Ser	coding	Benign/Likely_benign
2	27440459	G	A	G27440459A	NRBP1	NM_013392.4(NRBP1):c.1093G>A:p.Val365Ile	coding	Benign
2	27444430	A	G	A27444430G	IFT172	NM_015662.3(IFT172):c.*2T>C	noncoding	Benign
2	27444495	G	A	G27444495A	IFT172	NM_015662.3(IFT172):c.5187C>T:p.Asp1729=	coding	Benign
2	27444503	A	G	A27444503G	IFT172	NM_015662.3(IFT172):c.5179T>C:p.Cys1727Arg	coding	Pathogenic
2	27445374	G	A	G27445374A	IFT172	NM_015662.3(IFT172):c.4990C>T:p.Arg1664Trp	coding	Benign
2	27445431	C	T	C27445431T	IFT172	NM_015662.3(IFT172):c.4933G>A:p.Val1645Ile	coding	Benign
2	27445920	C	T	C27445920T	IFT172	NM_015662.3(IFT172):c.4815+9G>A	noncoding	Benign/Likely_benign
2	27445929	A	C	A27445929C	IFT172	NM_015662.3(IFT172):c.4815T>G:p.Asp1605Glu	coding	Pathogenic
2	27446251	C	G	C27446251G	IFT172	NM_015662.3(IFT172):c.4755+9G>C	noncoding	Benign
2	27446270	A	G	A27446270G	IFT172	NM_015662.3(IFT172):c.4745T>C:p.Ile1582Thr	coding	Benign
2	27446314	G	T	G27446314T	IFT172	NM_015662.3(IFT172):c.4701C>A:p.His1567Gln	coding	Pathogenic
2	27447499	A	G	A27447499G	IFT172	NM_015662.3(IFT172):c.4659+16T>C	noncoding	Benign
2	27447544	G	A	G27447544A	IFT172	NM_015662.3(IFT172):c.4630C>T:p.Arg1544Cys	coding	Pathogenic
2	27447546	G	A	G27447546A	IFT172	NM_015662.3(IFT172):c.4628C>T:p.Thr1543Met	coding	Benign
2	27447567	A	G	A27447567G	IFT172	NM_015662.3(IFT172):c.4607T>C:p.Leu1536Pro	coding	Pathogenic
2	27447640	G	A	G27447640A	IFT172	NM_015662.3(IFT172):c.4540-6C>T	noncoding	Benign/Likely_benign
2	27448910	G	C	G27448910C	IFT172	NM_015662.3(IFT172):c.4428+5C>G	noncoding	Benign
2	27449333	C	T	C27449333T	IFT172	NM_015662.3(IFT172):c.4272G>A:p.Gln1424=	coding	Benign
2	27453420	A	T	A27453420T	IFT172	NM_015662.3(IFT172):c.3915T>A:p.Ser1305=	coding	Benign
2	27453428	G	A	G27453428A	IFT172	NM_015662.3(IFT172):c.3907C>T:p.Arg1303Ter	coding	Pathogenic
2	27453485	G	A	G27453485A	IFT172	NM_015662.3(IFT172):c.3850C>T:p.Arg1284Ter	coding	Pathogenic/Likely_pathogenic
2	27453979	C	T	C27453979T	IFT172	NM_015662.3(IFT172):c.3711+3G>A	noncoding	Benign
2	27454083	C	G	C27454083G	IFT172	NM_015662.3(IFT172):c.3610G>C:p.Val1204Leu	coding	Benign
2	27454409	C	A	C27454409A	IFT172	NM_015662.3(IFT172):c.3475G>T:p.Glu1159Ter	coding	Pathogenic
2	27454631	C	A	C27454631A	IFT172	NM_015662.3(IFT172):c.3401G>T:p.Arg1134Leu	coding	Benign/Likely_benign
2	27454896	C	T	C27454896T	IFT172	NM_015662.3(IFT172):c.3372-236G>A	noncoding	Benign
2	27454911	C	T	C27454911T	IFT172	NM_015662.3(IFT172):c.3372-251G>A	noncoding	Benign
2	27456525	G	A	G27456525A	IFT172	NM_015662.3(IFT172):c.3357C>T:p.His1119=	coding	Benign/Likely_benign
2	27457638	C	T	C27457638T	IFT172	NM_015662.3(IFT172):c.3228+1G>A	noncoding	Pathogenic
2	27457760	A	T	A27457760T	IFT172	NM_015662.3(IFT172):c.3112-5T>A	noncoding	Pathogenic
2	27458798	C	T	C27458798T	IFT172	NM_015662.3(IFT172):c.2858G>A:p.Arg953His	coding	Benign/Likely_benign
2	27459442	C	T	C27459442T	IFT172	NM_015662.3(IFT172):c.2723G>A:p.Arg908Gln	coding	Benign
2	27459449	G	A	G27459449A	IFT172	NM_015662.3(IFT172):c.2716C>T:p.Gln906Ter	coding	Pathogenic
2	27459800	C	A	C27459800A	IFT172	NM_015662.3(IFT172):c.2551G>T:p.Val851Leu	coding	Benign/Likely_benign
2	27461346	G	A	G27461346A	IFT172	NM_015662.3(IFT172):c.2365C>T:p.Arg789Ter	coding	Pathogenic/Likely_pathogenic
2	27461797	G	A	G27461797A	IFT172	NM_015662.3(IFT172):c.2155C>T:p.His719Tyr	coding	Pathogenic
2	27462090	T	C	T27462090C	IFT172	NM_015662.3(IFT172):c.2116-254A>G	noncoding	Benign
2	27465616	C	A	C27465616A	IFT172	NM_015662.3(IFT172):c.1830-98G>T	noncoding	Benign
2	27465734	C	T	C27465734T	IFT172	NM_015662.3(IFT172):c.1829+12G>A	noncoding	Benign
2	27470618	T	C	T27470618C	IFT172	NM_015662.3(IFT172):c.1692+310A>G	noncoding	Benign
2	27471096	C	T	C27471096T	IFT172	NM_015662.3(IFT172):c.1525-1G>A	coding	Pathogenic
2	27472341	T	A	T27472341A	IFT172	NM_015662.3(IFT172):c.1433A>T:p.Asn478Ile	coding	Benign/Likely_benign
2	27476714	A	G	A27476714G	IFT172	NM_015662.3(IFT172):c.1338T>C:p.Asn446=	coding	Benign
2	27477310	A	T	A27477310T	IFT172	NM_015662.3(IFT172):c.1232T>A:p.Ile411Asn	coding	Pathogenic
2	27480049	G	A	G27480049A	IFT172	NM_015662.3(IFT172):c.886C>T:p.Arg296Trp	coding	Pathogenic
2	27480124	G	A	G27480124A	IFT172	NM_015662.3(IFT172):c.811C>T:p.Arg271Ter	coding	Pathogenic
2	27481061	A	G	A27481061G	IFT172	NM_015662.3(IFT172):c.770T>C:p.Leu257Pro	coding	Pathogenic
2	27481275	G	C	G27481275C	IFT172	NM_015662.3(IFT172):c.571-15C>G	noncoding	Benign
2	27483864	T	G	T27483864G	IFT172	NM_015662.3(IFT172):c.402+8A>C	noncoding	Benign
2	27483949	G	A	G27483949A	IFT172	NM_015662.3(IFT172):c.337-12C>T	noncoding	Benign
2	27485395	T	A	T27485395A	IFT172	NM_015662.3(IFT172):c.148A>T:p.Arg50Ter	coding	Pathogenic
2	27489541	C	T	C27489541T	IFT172	NM_015662.3(IFT172):c.39+74G>A	noncoding	Benign
2	27507752	T	C	T27507752C	GCKR	NM_001486.4(GCKR):c.1215T>C:p.Thr405=	coding	Benign
2	28525298	A	G	A28525298G	PLB1	NM_153021.5(PLB1):c.275A>G:p.Lys92Arg	coding	Benign
2	28529405	T	C	T28529405C	PLB1	NM_153021.5(PLB1):c.414T>C:p.Ala138=	coding	Benign
2	28529756	G	T	G28529756T	PLB1	NM_153021.5(PLB1):c.445G>T:p.Val149Leu	coding	Benign
2	28550020	A	G	A28550020G	PLB1	NM_153021.5(PLB1):c.1019A>G:p.Tyr340Cys	coding	Benign
2	28573315	G	A	G28573315A	PLB1	NM_153021.5(PLB1):c.1433+10G>A	noncoding	Benign
2	28579677	C	T	C28579677T	PLB1	NM_153021.5(PLB1):c.1536C>T:p.Gly512=	coding	Benign
2	28582447	G	A	G28582447A	PLB1	NM_153021.5(PLB1):c.1675G>A:p.Val559Ile	coding	Benign
2	28590027	C	T	C28590027T	PLB1	NM_153021.5(PLB1):c.2039C>T:p.Thr680Met	coding	Benign
2	28591138	G	C	G28591138C	PLB1	NM_153021.5(PLB1):c.2094G>C:p.Gln698His	coding	Benign
2	28591141	G	A	G28591141A	PLB1	NM_153021.5(PLB1):c.2097G>A:p.Pro699=	coding	Benign
2	28592651	G	A	G28592651A	PLB1	NM_153021.5(PLB1):c.2189-10G>A	noncoding	Benign
2	28598017	C	T	C28598017T	PLB1	NM_153021.5(PLB1):c.2334C>T:p.Asp778=	coding	Benign
2	28598721	A	T	A28598721T	PLB1	NM_153021.5(PLB1):c.2435A>T:p.Asn812Ile	coding	Benign
2	28598747	G	A	G28598747A	PLB1	NM_153021.5(PLB1):c.2461G>A:p.Gly821Arg	coding	Benign
2	28601296	C	T	C28601296T	PLB1	NM_153021.5(PLB1):c.2571C>T:p.Ile857=	coding	Benign
2	28601935	C	T	C28601935T	PLB1	NM_153021.5(PLB1):c.2644C>T:p.Arg882Cys	coding	Benign
2	28601936	G	A	G28601936A	PLB1	NM_153021.5(PLB1):c.2645G>A:p.Arg882His	coding	Benign
2	28602857	A	T	A28602857T	PLB1	NM_153021.5(PLB1):c.2710A>T:p.Asn904Tyr	coding	Benign
2	28604666	C	T	C28604666T	PLB1	NM_153021.5(PLB1):c.2868C>T:p.Arg956=	coding	Benign
2	28628553	T	C	T28628553C	PLB1	NM_153021.5(PLB1):c.3661-10T>C	noncoding	Benign
2	28632116	A	C	A28632116C	PLB1	NM_153021.5(PLB1):c.3978A>C:p.Gln1326His	coding	Benign
2	28640943	G	A	G28640943A	PLB1	NM_153021.5(PLB1):c.4115G>A:p.Arg1372His	coding	Benign
2	28776842	G	A	G28776842A	PPP1CB	NM_002709.3(PPP1CB):c.53-9G>A	noncoding	Benign
2	28776944	C	G	C28776944G	PPP1CB	NM_002709.3(PPP1CB):c.146C>G:p.Pro49Arg	coding	Pathogenic
2	28776964	G	C	G28776964C	PPP1CB	NM_002709.3(PPP1CB):c.166G>C:p.Ala56Pro	coding	Pathogenic
2	28778825	A	G	A28778825G	PPP1CB	NM_002709.3(PPP1CB):c.201A>G:p.Gln67=	coding	Benign
2	28783934	A	C	A28783934C	PPP1CB	NM_002709.3(PPP1CB):c.548A>C:p.Glu183Ala	coding	Pathogenic/Likely_pathogenic
2	28783934	A	T	A28783934T	PPP1CB	NM_002709.3(PPP1CB):c.548A>T:p.Glu183Val	coding	Pathogenic
2	28816141	T	C	T28816141C	SPDYA	NM_182756.4(SPDYA):c.127T>C:p.Trp43Arg	coding	Benign
2	28906450	T	A	T28906450A	WDR43	NM_015131.3(WDR43):c.364-10T>A	noncoding	Benign
2	29061812	G	A	G29061812A	PCARE	NM_001029883.3(PCARE):c.*3057C>T	noncoding	Benign
2	29061940	A	G	A29061940G	PCARE	NM_001029883.3(PCARE):c.*2929T>C	noncoding	Benign
2	29062115	T	C	T29062115C	PCARE	NM_001029883.3(PCARE):c.*2754A>G	noncoding	Benign
2	29062199	A	G	A29062199G	PCARE	NM_001029883.3(PCARE):c.*2670T>C	noncoding	Benign
2	29062240	C	T	C29062240T	PCARE	NM_001029883.3(PCARE):c.*2629G>A	noncoding	Benign
2	29062284	T	C	T29062284C	PCARE	NM_001029883.3(PCARE):c.*2585A>G	noncoding	Benign
2	29062344	C	T	C29062344T	PCARE	NM_001029883.3(PCARE):c.*2525G>A	noncoding	Benign
2	29062388	C	T	C29062388T	PCARE	NM_001029883.3(PCARE):c.*2481G>A	noncoding	Benign
2	29062590	C	T	C29062590T	PCARE	NM_001029883.3(PCARE):c.*2279G>A	noncoding	Benign
2	29062709	C	T	C29062709T	PCARE	NM_001029883.3(PCARE):c.*2160G>A	noncoding	Benign
2	29062765	A	G	A29062765G	PCARE	NM_001029883.3(PCARE):c.*2104T>C	noncoding	Benign
2	29062847	C	T	C29062847T	PCARE	NM_001029883.3(PCARE):c.*2022G>A	noncoding	Benign
2	29062957	A	T	A29062957T	PCARE	NM_001029883.3(PCARE):c.*1912T>A	noncoding	Benign
2	29063206	G	A	G29063206A	PCARE	NM_001029883.3(PCARE):c.*1663C>T	noncoding	Benign
2	29063327	T	C	T29063327C	PCARE	NM_001029883.3(PCARE):c.*1542A>G	noncoding	Benign
2	29063498	C	T	C29063498T	PCARE	NM_001029883.3(PCARE):c.*1371G>A	noncoding	Benign
2	29063643	T	C	T29063643C	PCARE	NM_001029883.3(PCARE):c.*1226A>G	noncoding	Benign
2	29063804	T	C	T29063804C	PCARE	NM_001029883.3(PCARE):c.*1065A>G	noncoding	Benign
2	29064039	G	T	G29064039T	PCARE	NM_001029883.3(PCARE):c.*830C>A	noncoding	Benign
2	29064326	G	A	G29064326A	PCARE	NM_001029883.3(PCARE):c.*543C>T	noncoding	Benign
2	29064361	T	C	T29064361C	PCARE	NM_001029883.3(PCARE):c.*508A>G	noncoding	Benign
2	29064363	A	G	A29064363G	PCARE	NM_001029883.3(PCARE):c.*506T>C	noncoding	Benign
2	29064842	C	T	C29064842T	PCARE	NM_001029883.3(PCARE):c.*27G>A	noncoding	Benign
2	29064896	C	T	C29064896T	PCARE	NM_001029883.3(PCARE):c.3840G>A:p.Ala1280=	coding	Benign
2	29064947	C	T	C29064947T	PCARE	NM_001029883.3(PCARE):c.3789G>A:p.Leu1263=	coding	Benign
2	29064956	G	A	G29064956A	PCARE	NM_001029883.3(PCARE):c.3780C>T:p.Gly1260=	coding	Benign
2	29064975	G	A	G29064975A	PCARE	NM_001029883.3(PCARE):c.3761C>T:p.Pro1254Leu	coding	Benign
2	29064997	C	T	C29064997T	PCARE	NM_001029883.3(PCARE):c.3739G>A:p.Gly1247Ser	coding	Benign/Likely_benign
2	29070580	A	G	A29070580G	PCARE	NM_001029883.3(PCARE):c.3668+14T>C	noncoding	Benign
2	29070658	G	A	G29070658A	PCARE	NM_001029883.3(PCARE):c.3604C>T:p.Arg1202Ter	coding	Pathogenic
2	29070740	G	A	G29070740A	PCARE	NM_001029883.3(PCARE):c.3522C>T:p.Asp1174=	coding	Benign/Likely_benign
2	29070774	C	T	C29070774T	PCARE	NM_001029883.3(PCARE):c.3488G>A:p.Trp1163Ter	coding	Pathogenic
2	29070815	C	T	C29070815T	PCARE	NM_001029883.3(PCARE):c.3447G>A:p.Pro1149=	coding	Benign/Likely_benign
2	29070973	G	A	G29070973A	PCARE	NM_001029883.3(PCARE):c.3289C>T:p.Gln1097Ter	coding	Pathogenic
2	29071213	T	A	T29071213A	PCARE	NM_001029883.3(PCARE):c.3049A>T:p.Arg1017Ter	coding	Pathogenic
2	29071260	C	T	C29071260T	PCARE	NM_001029883.3(PCARE):c.3002G>A:p.Trp1001Ter	coding	Pathogenic
2	29071312	G	A	G29071312A	PCARE	NM_001029883.3(PCARE):c.2950C>T:p.Arg984Ter	coding	Pathogenic
2	29071373	G	A	G29071373A	PCARE	NM_001029883.3(PCARE):c.2889C>T:p.Ser963=	coding	Benign
2	29071387	C	T	C29071387T	PCARE	NM_001029883.3(PCARE):c.2875G>A:p.Ala959Thr	coding	Benign
2	29071558	T	A	T29071558A	PCARE	NM_001029883.3(PCARE):c.2704A>T:p.Lys902Ter	coding	Pathogenic
2	29071756	C	A	C29071756A	PCARE	NM_001029883.3(PCARE):c.2506G>T:p.Glu836Ter	coding	Pathogenic
2	29071763	C	T	C29071763T	PCARE	NM_001029883.3(PCARE):c.2499G>A:p.Pro833=	coding	Benign
2	29071856	T	C	T29071856C	PCARE	NM_001029883.3(PCARE):c.2406A>G:p.Ala802=	coding	Benign
2	29071888	G	C	G29071888C	PCARE	NM_001029883.3(PCARE):c.2374C>G:p.Leu792Val	coding	Benign
2	29072150	A	G	A29072150G	PCARE	NM_001029883.3(PCARE):c.2112T>C:p.Asn704=	coding	Benign
2	29072313	C	T	C29072313T	PCARE	NM_001029883.3(PCARE):c.1949G>A:p.Trp650Ter	coding	Pathogenic
2	29072320	C	T	C29072320T	PCARE	NM_001029883.3(PCARE):c.1942G>A:p.Ala648Thr	coding	Benign
2	29072380	C	T	C29072380T	PCARE	NM_001029883.3(PCARE):c.1882G>A:p.Ala628Thr	coding	Benign
2	29072418	A	T	A29072418T	PCARE	NM_001029883.3(PCARE):c.1844T>A:p.Val615Asp	coding	Benign/Likely_benign
2	29072425	G	A	G29072425A	PCARE	NM_001029883.3(PCARE):c.1837C>T:p.Arg613Ter	coding	Pathogenic
2	29072434	G	A	G29072434A	PCARE	NM_001029883.3(PCARE):c.1828C>T:p.Gln610Ter	coding	Pathogenic
2	29072523	G	A	G29072523A	PCARE	NM_001029883.3(PCARE):c.1739C>T:p.Thr580Met	coding	Benign
2	29072810	G	A	G29072810A	PCARE	NM_001029883.3(PCARE):c.1452C>T:p.Ser484=	coding	Benign
2	29072875	C	A	C29072875A	PCARE	NM_001029883.3(PCARE):c.1387G>T:p.Val463Phe	coding	Benign
2	29073000	T	C	T29073000C	PCARE	NM_001029883.3(PCARE):c.1262A>G:p.Lys421Arg	coding	Benign
2	29073071	C	T	C29073071T	PCARE	NM_001029883.3(PCARE):c.1191G>A:p.Trp397Ter	coding	Pathogenic
2	29073460	G	A	G29073460A	PCARE	NM_001029883.3(PCARE):c.802C>T:p.Gln268Ter	coding	Pathogenic
2	29073489	C	A	C29073489A	PCARE	NM_001029883.3(PCARE):c.773G>T:p.Arg258Ile	coding	Benign
2	29073504	C	T	C29073504T	PCARE	NM_001029883.3(PCARE):c.758G>A:p.Trp253Ter	coding	Pathogenic
2	29073507	G	T	G29073507T	PCARE	NM_001029883.3(PCARE):c.755C>A:p.Ala252Asp	coding	Benign
2	29073550	T	A	T29073550A	PCARE	NM_001029883.3(PCARE):c.712A>T:p.Lys238Ter	coding	Pathogenic
2	29073583	C	T	C29073583T	PCARE	NM_001029883.3(PCARE):c.679G>A:p.Glu227Lys	coding	Benign
2	29073661	T	A	T29073661A	PCARE	NM_001029883.3(PCARE):c.601A>T:p.Ile201Phe	coding	Pathogenic
2	29073706	G	A	G29073706A	PCARE	NM_001029883.3(PCARE):c.556C>T:p.Gln186Ter	coding	Pathogenic
2	29073896	A	G	A29073896G	PCARE	NM_001029883.3(PCARE):c.366T>C:p.His122=	coding	Benign/Likely_benign
2	29074004	C	T	C29074004T	PCARE	NM_001029883.3(PCARE):c.258G>A:p.Arg86=	coding	Benign
2	29074078	G	C	G29074078C	PCARE	NM_001029883.3(PCARE):c.184C>G:p.Pro62Ala	coding	Benign
2	29074202	C	T	C29074202T	PCARE	NM_001029883.3(PCARE):c.60G>A:p.Gln20=	coding	Benign
2	29074225	T	A	T29074225A	PCARE	NM_001029883.3(PCARE):c.37A>T:p.Ser13Cys	coding	Benign
2	29167482	A	G	A29167482G	CLIP4	NM_024692.6(CLIP4):c.1665A>G:p.Thr555=	coding	Benign
2	29192926	G	A	G29192926A	ALK	NM_004304.5(ALK):c.*298C>T	noncoding	Benign
2	29193113	G	A	G29193113A	ALK	NM_004304.5(ALK):c.*111C>T	noncoding	Benign
2	29193161	T	C	T29193161C	ALK	NM_004304.5(ALK):c.*63A>G	noncoding	Benign
2	29193171	C	G	C29193171G	ALK	NM_004304.5(ALK):c.*53G>C	noncoding	Benign
2	29193179	C	T	C29193179T	ALK	NM_004304.5(ALK):c.*45G>A	noncoding	Benign
2	29193251	C	T	C29193251T	ALK	NM_004304.5(ALK):c.4836G>A:p.Lys1612=	coding	Benign/Likely_benign
2	29193491	G	A	G29193491A	ALK	NM_004304.5(ALK):c.4596C>T:p.Asn1532=	coding	Benign
2	29193500	G	C	G29193500C	ALK	NM_004304.5(ALK):c.4587C>G:p.Asp1529Glu	coding	Benign
2	29193514	T	C	T29193514C	ALK	NM_004304.5(ALK):c.4573A>G:p.Lys1525Glu	coding	Benign
2	29193607	C	T	C29193607T	ALK	NM_004304.5(ALK):c.4480G>A:p.Gly1494Arg	coding	Benign/Likely_benign
2	29193614	C	T	C29193614T	ALK	NM_004304.5(ALK):c.4473G>A:p.Lys1491=	coding	Benign/Likely_benign
2	29193615	T	C	T29193615C	ALK	NM_004304.5(ALK):c.4472A>G:p.Lys1491Arg	coding	Benign
2	29193706	T	C	T29193706C	ALK	NM_004304.5(ALK):c.4381A>G:p.Ile1461Val	coding	Benign
2	29193749	G	A	G29193749A	ALK	NM_004304.5(ALK):c.4338C>T:p.Thr1446=	coding	Benign
2	29193884	A	G	A29193884G	ALK	NM_004304.5(ALK):c.4203T>C:p.Tyr1401=	coding	Benign
2	29193928	G	A	G29193928A	ALK	NM_004304.5(ALK):c.4165-6C>T	noncoding	Benign
2	29196607	A	G	A29196607G	ALK	NM_004304.5(ALK):c.4164+163T>C	noncoding	Benign
2	29196725	G	T	G29196725T	ALK	NM_004304.5(ALK):c.4164+45C>A	noncoding	Benign
2	29197449	C	T	C29197449T	ALK	NM_004304.5(ALK):c.4073+93G>A	noncoding	Benign
2	29197684	T	C	T29197684C	ALK	NM_004304.5(ALK):c.3939-8A>G	noncoding	Benign/Likely_benign
2	29209789	T	G	T29209789G	ALK	NM_004304.5(ALK):c.3833A>C:p.Tyr1278Ser	coding	Pathogenic
2	29209798	C	T	C29209798T	ALK	NM_004304.5(ALK):c.3824G>A:p.Arg1275Gln	coding	Pathogenic
2	29209873	A	G	A29209873G	ALK	NM_004304.5(ALK):c.3749T>C:p.Ile1250Thr	coding	Pathogenic/Likely_pathogenic
2	29209910	T	C	T29209910C	ALK	NM_004304.5(ALK):c.3744-32A>G	noncoding	Benign
2	29213767	G	T	G29213767T	ALK	NM_004304.5(ALK):c.3743+217C>A	noncoding	Benign
2	29213992	G	C	G29213992C	ALK	NM_004304.5(ALK):c.3735C>G:p.Phe1245Leu	coding	Pathogenic
2	29213992	G	T	G29213992T	ALK	NM_004304.5(ALK):c.3735C>A:p.Phe1245Leu	coding	Pathogenic
2	29213993	A	C	A29213993C	ALK	NM_004304.5(ALK):c.3734T>G:p.Phe1245Cys	coding	Pathogenic
2	29213994	A	C	A29213994C	ALK	NM_004304.5(ALK):c.3733T>G:p.Phe1245Val	coding	Pathogenic
2	29213994	A	T	A29213994T	ALK	NM_004304.5(ALK):c.3733T>A:p.Phe1245Ile	coding	Pathogenic/Likely_pathogenic
2	29214054	C	T	C29214054T	ALK	NM_004304.5(ALK):c.3673G>A:p.Asp1225Asn	coding	Pathogenic
2	29214316	T	C	T29214316C	ALK	NM_004304.5(ALK):c.3646-235A>G	noncoding	Benign
2	29220751	C	G	C29220751G	ALK	NM_004304.5(ALK):c.3600G>C:p.Ala1200=	coding	Benign
2	29220751	C	T	C29220751T	ALK	NM_004304.5(ALK):c.3600G>A:p.Ala1200=	coding	Benign/Likely_benign
2	29220757	G	A	G29220757A	ALK	NM_004304.5(ALK):c.3594C>T:p.Leu1198=	coding	Benign/Likely_benign
2	29220829	G	C	G29220829C	ALK	NM_004304.5(ALK):c.3522C>G:p.Phe1174Leu	coding	Pathogenic/Likely_pathogenic
2	29220829	G	T	G29220829T	ALK	NM_004304.5(ALK):c.3522C>A:p.Phe1174Leu	coding	Pathogenic/Likely_pathogenic
2	29220830	A	C	A29220830C	ALK	NM_004304.5(ALK):c.3521T>G:p.Phe1174Cys	coding	Pathogenic
2	29220831	A	C	A29220831C	ALK	NM_004304.5(ALK):c.3520T>G:p.Phe1174Val	coding	Pathogenic
2	29220831	A	G	A29220831G	ALK	NM_004304.5(ALK):c.3520T>C:p.Phe1174Leu	coding	Pathogenic/Likely_pathogenic
2	29220831	A	T	A29220831T	ALK	NM_004304.5(ALK):c.3520T>A:p.Phe1174Ile	coding	Pathogenic
2	29222247	C	T	C29222247T	ALK	NM_004304.5(ALK):c.3515+97G>A	noncoding	Benign
2	29222291	G	C	G29222291C	ALK	NM_004304.5(ALK):c.3515+53C>G	noncoding	Benign
2	29222347	A	G	A29222347G	ALK	NM_004304.5(ALK):c.3512T>C:p.Ile1171Thr	coding	Pathogenic
2	29222347	A	T	A29222347T	ALK	NM_004304.5(ALK):c.3512T>A:p.Ile1171Asn	coding	Pathogenic
2	29222559	G	A	G29222559A	ALK	NM_004304.5(ALK):c.3408C>T:p.Ser1136=	coding	Benign
2	29222592	G	T	G29222592T	ALK	NM_004304.5(ALK):c.3375C>A:p.Gly1125=	coding	Benign
2	29223262	A	G	A29223262G	ALK	NM_004304.5(ALK):c.3359+80T>C	noncoding	Benign
2	29223336	G	A	G29223336A	ALK	NM_004304.5(ALK):c.3359+6C>T	noncoding	Benign
2	29223365	C	T	C29223365T	ALK	NM_004304.5(ALK):c.3336G>A:p.Pro1112=	coding	Benign/Likely_benign
2	29226932	G	T	G29226932T	ALK	NM_004304.5(ALK):c.3057C>A:p.Val1019=	coding	Benign/Likely_benign
2	29226953	C	T	C29226953T	ALK	NM_004304.5(ALK):c.3036G>A:p.Thr1012=	coding	Benign
2	29226954	G	A	G29226954A	ALK	NM_004304.5(ALK):c.3035C>T:p.Thr1012Met	coding	Benign/Likely_benign
2	29226959	G	A	G29226959A	ALK	NM_004304.5(ALK):c.3030C>T:p.His1010=	coding	Benign/Likely_benign
2	29227061	G	A	G29227061A	ALK	NM_004304.5(ALK):c.2928C>T:p.His976=	coding	Benign/Likely_benign
2	29227083	A	G	A29227083G	ALK	NM_004304.5(ALK):c.2915-9T>C	noncoding	Benign
2	29228924	T	C	T29228924C	ALK	NM_004304.5(ALK):c.2775A>G:p.Gly925=	coding	Benign
2	29228927	A	C	A29228927C	ALK	NM_004304.5(ALK):c.2772T>G:p.Gly924=	coding	Benign
2	29229023	G	A	G29229023A	ALK	NM_004304.5(ALK):c.2676C>T:p.Ala892=	coding	Benign/Likely_benign
2	29232296	C	T	C29232296T	ALK	NM_004304.5(ALK):c.2632+8G>A	noncoding	Benign/Likely_benign
2	29232323	G	A	G29232323A	ALK	NM_004304.5(ALK):c.2613C>T:p.Asn871=	coding	Benign
2	29232401	A	G	A29232401G	ALK	NM_004304.5(ALK):c.2535T>C:p.Gly845=	coding	Benign
2	29232410	G	A	G29232410A	ALK	NM_004304.5(ALK):c.2526C>T:p.Ala842=	coding	Benign/Likely_benign
2	29233574	G	A	G29233574A	ALK	NM_004304.5(ALK):c.2478C>T:p.Tyr826=	coding	Benign/Likely_benign
2	29233601	G	A	G29233601A	ALK	NM_004304.5(ALK):c.2451C>T:p.Gly817=	coding	Benign/Likely_benign
2	29233622	G	A	G29233622A	ALK	NM_004304.5(ALK):c.2430C>T:p.Ser810=	coding	Benign
2	29239692	G	A	G29239692A	ALK	NM_004304.5(ALK):c.2343C>T:p.Asp781=	coding	Benign
2	29239767	G	A	G29239767A	ALK	NM_004304.5(ALK):c.2268C>T:p.Gly756=	coding	Benign/Likely_benign
2	29251134	G	A	G29251134A	ALK	NM_004304.5(ALK):c.2175C>T:p.Ile725=	coding	Benign
2	29251161	G	A	G29251161A	ALK	NM_004304.5(ALK):c.2148C>T:p.Ser716=	coding	Benign/Likely_benign
2	29251176	G	A	G29251176A	ALK	NM_004304.5(ALK):c.2133C>T:p.Ser711=	coding	Benign
2	29251182	G	T	G29251182T	ALK	NM_004304.5(ALK):c.2127C>A:p.Asn709Lys	coding	Benign
2	29251200	G	A	G29251200A	ALK	NM_004304.5(ALK):c.2109C>T:p.Asn703=	coding	Benign/Likely_benign
2	29275101	G	A	G29275101A	ALK	NM_004304.5(ALK):c.2039C>T:p.Thr680Ile	coding	Benign/Likely_benign
2	29275129	G	A	G29275129A	ALK	NM_004304.5(ALK):c.2011C>T:p.Pro671Ser	coding	Benign
2	29275197	G	A	G29275197A	ALK	NM_004304.5(ALK):c.1943C>T:p.Thr648Ile	coding	Benign/Likely_benign
2	29296765	C	T	C29296765T	ALK	NM_004304.5(ALK):c.1817+123G>A	noncoding	Benign
2	29296985	C	G	C29296985G	ALK	NM_004304.5(ALK):c.1720G>C:p.Gly574Arg	coding	Benign
2	29296986	G	A	G29296986A	ALK	NM_004304.5(ALK):c.1719C>T:p.Thr573=	coding	Benign/Likely_benign
2	29297016	G	A	G29297016A	ALK	NM_004304.5(ALK):c.1689C>T:p.Asn563=	coding	Benign
2	29318126	T	C	T29318126C	ALK	NM_004304.5(ALK):c.1647+178A>G	noncoding	Benign
2	29318238	C	T	C29318238T	ALK	NM_004304.5(ALK):c.1647+66G>A	noncoding	Benign
2	29318409	G	A	G29318409A	ALK	NM_004304.5(ALK):c.1547-5C>T	noncoding	Benign
2	29320648	C	T	C29320648T	ALK	NM_004304.5(ALK):c.1546+103G>A	noncoding	Benign
2	29320797	T	C	T29320797C	ALK	NM_004304.5(ALK):c.1500A>G:p.Gln500=	coding	Benign
2	29320833	G	A	G29320833A	ALK	NM_004304.5(ALK):c.1464C>T:p.Gly488=	coding	Benign
2	29320870	A	G	A29320870G	ALK	NM_004304.5(ALK):c.1427T>C:p.Val476Ala	coding	Benign
2	29383780	G	A	G29383780A	ALK	NM_004304.5(ALK):c.1234C>T:p.Arg412Cys	coding	Benign/Likely_benign
2	29531941	G	A	G29531941A	ALK	NM_004304.5(ALK):c.1128C>T:p.Leu376=	coding	Benign
2	29531958	C	T	C29531958T	ALK	NM_004304.5(ALK):c.1111G>A:p.Ala371Thr	coding	Benign
2	29531959	C	T	C29531959T	ALK	NM_004304.5(ALK):c.1110G>A:p.Glu370=	coding	Benign/Likely_benign
2	29694658	G	T	G29694658T	ALK	NM_004304.5(ALK):c.952+192C>A	noncoding	Benign
2	29694834	G	A	G29694834A	ALK	NM_004304.5(ALK):c.952+16C>T	noncoding	Benign
2	29694870	C	T	C29694870T	ALK	NM_004304.5(ALK):c.932G>A:p.Arg311His	coding	Benign/Likely_benign
2	29694956	G	A	G29694956A	ALK	NM_004304.5(ALK):c.846C>T:p.Asp282=	coding	Benign/Likely_benign
2	29717589	C	T	C29717589T	ALK	NM_004304.5(ALK):c.776G>A:p.Arg259His	coding	Benign/Likely_benign
2	29717663	A	T	A29717663T	ALK	NM_004304.5(ALK):c.702T>A:p.Pro234=	coding	Benign
2	29920015	A	G	A29920015G	ALK	NM_004304.5(ALK):c.645T>C:p.Leu215=	coding	Benign
2	29920063	G	A	G29920063A	ALK	NM_004304.5(ALK):c.597C>T:p.Gly199=	coding	Benign/Likely_benign
2	29920068	C	T	C29920068T	ALK	NM_004304.5(ALK):c.592G>A:p.Val198Met	coding	Benign
2	29920173	C	A	C29920173A	ALK	NM_004304.5(ALK):c.487G>T:p.Val163Leu	coding	Benign/Likely_benign
2	29920393	G	T	G29920393T	ALK	NM_004304.5(ALK):c.267C>A:p.Gly89=	coding	Benign/Likely_benign
2	29920633	G	C	G29920633C	ALK	NM_004304.5(ALK):c.27C>G:p.Leu9=	coding	Benign
2	29920664	C	T	C29920664T	ALK	NM_004304.5(ALK):c.-5G>A	noncoding	Benign/Likely_benign
2	29921198	C	T	C29921198T	ALK	NM_004304.5(ALK):c.-539G>A	noncoding	Benign
2	30912229	G	A	G30912229A	GALNT14	NM_024572.4(GALNT14):c.1494C>T:p.Asp498=	coding	Benign
2	30955678	G	A	G30955678A	GALNT14	NM_024572.4(GALNT14):c.594C>T:p.Leu198=	coding	Benign
2	30955749	G	A	G30955749A	GALNT14	NM_024572.4(GALNT14):c.533-10C>T	noncoding	Benign
2	30992932	C	T	C30992932T	GALNT14	NM_024572.4(GALNT14):c.205G>A:p.Val69Ile	coding	Benign
2	31200622	G	A	G31200622A	CAPN14	NM_001145122.2(CAPN14):c.555C>T:p.Leu185=	coding	Benign
2	31249477	C	T	C31249477T	EHD3	NM_014600.3(EHD3):c.502+9C>T	noncoding	Benign
2	31260652	A	G	A31260652G	EHD3	NM_014600.3(EHD3):c.645A>G:p.Arg215=	coding	Benign
2	31266383	G	T	G31266383T	EHD3	NM_014600.3(EHD3):c.1287G>T:p.Gly429=	coding	Benign
2	31334403	C	A	C31334403A	XDH	NM_000379.4(XDH):c.*1555G>T	noncoding	Benign
2	31334442	G	A	G31334442A	XDH	NM_000379.4(XDH):c.*1516C>T	noncoding	Benign
2	31334481	T	C	T31334481C	XDH	NM_000379.4(XDH):c.*1477A>G	noncoding	Benign
2	31334877	T	C	T31334877C	XDH	NM_000379.4(XDH):c.*1081A>G	noncoding	Benign
2	31335440	T	C	T31335440C	XDH	NM_000379.4(XDH):c.*518A>G	noncoding	Benign
2	31335917	C	G	C31335917G	XDH	NM_000379.4(XDH):c.*41G>C	noncoding	Benign
2	31337655	T	C	T31337655C	XDH	NM_000379.4(XDH):c.3937A>G:p.Lys1313Glu	coding	Benign/Likely_benign
2	31337706	G	A	G31337706A	XDH	NM_000379.4(XDH):c.3886C>T:p.Arg1296Trp	coding	Benign
2	31337803	C	T	C31337803T	XDH	NM_000379.4(XDH):c.3789G>A:p.Pro1263=	coding	Benign
2	31339546	C	T	C31339546T	XDH	NM_000379.4(XDH):c.3717G>A:p.Glu1239=	coding	Benign
2	31341395	C	G	C31341395G	XDH	NM_000379.4(XDH):c.3520-1G>C	coding	Pathogenic
2	31344713	T	C	T31344713C	XDH	NM_000379.4(XDH):c.3375A>G:p.Thr1125=	coding	Benign
2	31346794	T	G	T31346794G	XDH	NM_000379.4(XDH):c.3326A>C:p.Asn1109Thr	coding	Benign
2	31347510	T	C	T31347510C	XDH	NM_000379.4(XDH):c.3276+12A>G	noncoding	Benign
2	31347527	C	G	C31347527G	XDH	NM_000379.4(XDH):c.3271G>C:p.Val1091Leu	coding	Benign/Likely_benign
2	31348331	G	A	G31348331A	XDH	NM_000379.4(XDH):c.3084C>T:p.Gly1028=	coding	Benign/Likely_benign
2	31348375	G	C	G31348375C	XDH	NM_000379.4(XDH):c.3052-12C>G	noncoding	Benign
2	31348920	A	G	A31348920G	XDH	NM_000379.4(XDH):c.3030T>C:p.Phe1010=	coding	Benign
2	31366981	G	A	G31366981A	XDH	NM_000379.4(XDH):c.2211C>T:p.Ile737=	coding	Benign
2	31368051	T	C	T31368051C	XDH	NM_000379.4(XDH):c.2107A>G:p.Ile703Val	coding	Benign/Likely_benign
2	31368628	C	T	C31368628T	XDH	NM_000379.4(XDH):c.2013G>A:p.Val671=	coding	Benign
2	31368651	C	T	C31368651T	XDH	NM_000379.4(XDH):c.1990G>A:p.Val664Ile	coding	Benign
2	31370450	C	T	C31370450T	XDH	NM_000379.4(XDH):c.1885G>A:p.Val629Ile	coding	Benign/Likely_benign
2	31370482	C	T	C31370482T	XDH	NM_000379.4(XDH):c.1857-4G>A	noncoding	Benign/Likely_benign
2	31372333	T	G	T31372333G	XDH	NM_000379.4(XDH):c.1751A>C:p.Asp584Ala	coding	Benign/Likely_benign
2	31373865	G	A	G31373865A	XDH	NM_000379.4(XDH):c.1686+8C>T	noncoding	Benign
2	31373890	C	T	C31373890T	XDH	NM_000379.4(XDH):c.1669G>A:p.Asp557Asn	coding	Benign
2	31373930	G	A	G31373930A	XDH	NM_000379.4(XDH):c.1629C>T:p.Phe543=	coding	Benign/Likely_benign
2	31373942	C	A	C31373942A	XDH	NM_000379.4(XDH):c.1617G>T:p.Leu539=	coding	Benign
2	31375473	G	C	G31375473C	XDH	NM_000379.4(XDH):c.1509C>G:p.Gly503=	coding	Benign
2	31377038	G	T	G31377038T	XDH	NM_000379.4(XDH):c.1427+15C>A	noncoding	Benign
2	31377151	C	T	C31377151T	XDH	NM_000379.4(XDH):c.1329G>A:p.Lys443=	coding	Benign
2	31379925	T	A	T31379925A	XDH	NM_000379.4(XDH):c.1184A>T:p.Lys395Met	coding	Benign/Likely_benign
2	31379975	G	A	G31379975A	XDH	NM_000379.4(XDH):c.1134C>T:p.Gly378=	coding	Benign/Likely_benign
2	31386525	G	A	G31386525A	XDH	NM_000379.4(XDH):c.682C>T:p.Arg228Ter	coding	Pathogenic
2	31387835	C	T	C31387835T	XDH	NM_000379.4(XDH):c.627G>A:p.Glu209=	coding	Benign
2	31397718	G	A	G31397718A	XDH	NM_000379.4(XDH):c.445C>T:p.Arg149Cys	coding	Pathogenic
2	31398609	C	T	C31398609T	XDH	NM_000379.4(XDH):c.397G>A:p.Glu133Lys	coding	Benign/Likely_benign
2	31524644	C	T	C31524644T	SRD5A2	NM_000348.4(SRD5A2):c.*1552G>A	noncoding	Benign
2	31524923	T	C	T31524923C	SRD5A2	NM_000348.4(SRD5A2):c.*1273A>G	noncoding	Benign
2	31525140	C	G	C31525140G	SRD5A2	NM_000348.4(SRD5A2):c.*1056G>C	noncoding	Benign
2	31525347	T	C	T31525347C	SRD5A2	NM_000348.4(SRD5A2):c.*849A>G	noncoding	Benign
2	31525824	C	T	C31525824T	SRD5A2	NM_000348.4(SRD5A2):c.*372G>A	noncoding	Benign
2	31525937	A	G	A31525937G	SRD5A2	NM_000348.4(SRD5A2):c.*259T>C	noncoding	Benign
2	31525972	T	A	T31525972A	SRD5A2	NM_000348.4(SRD5A2):c.*224A>T	noncoding	Benign
2	31526105	G	A	G31526105A	SRD5A2	NM_000348.4(SRD5A2):c.*91C>T	noncoding	Benign
2	31526108	A	T	A31526108T	SRD5A2	NM_000348.4(SRD5A2):c.*88T>A	noncoding	Benign
2	31526153	C	T	C31526153T	SRD5A2	NM_000348.4(SRD5A2):c.*43G>A	noncoding	Benign
2	31526224	C	T	C31526224T	SRD5A2	NM_000348.4(SRD5A2):c.737G>A:p.Arg246Gln	coding	Pathogenic
2	31526225	G	A	G31526225A	SRD5A2	NM_000348.4(SRD5A2):c.736C>T:p.Arg246Trp	coding	Pathogenic
2	31526257	T	A	T31526257A	SRD5A2	NM_000348.4(SRD5A2):c.704A>T:p.Tyr235Phe	coding	Pathogenic
2	31529313	T	C	T31529313C	SRD5A2	NM_000348.4(SRD5A2):c.692A>G:p.His231Arg	coding	Pathogenic
2	31529323	C	T	C31529323T	SRD5A2	NM_000348.4(SRD5A2):c.682G>A:p.Ala228Thr	coding	Pathogenic
2	31529325	C	T	C31529325T	SRD5A2	NM_000348.4(SRD5A2):c.680G>A:p.Arg227Gln	coding	Pathogenic/Likely_pathogenic
2	31529326	G	A	G31529326A	SRD5A2	NM_000348.4(SRD5A2):c.679C>T:p.Arg227Ter	coding	Pathogenic
2	31529370	G	C	G31529370C	SRD5A2	NM_000348.4(SRD5A2):c.635C>G:p.Pro212Arg	coding	Pathogenic
2	31529385	G	T	G31529385T	SRD5A2	NM_000348.4(SRD5A2):c.620C>A:p.Ala207Asp	coding	Pathogenic
2	31529398	C	T	C31529398T	SRD5A2	NM_000348.4(SRD5A2):c.607G>A:p.Gly203Ser	coding	Pathogenic
2	31529411	G	A	G31529411A	SRD5A2	NM_000348.4(SRD5A2):c.594C>T:p.Ile198=	coding	Benign
2	31529414	C	A	C31529414A	SRD5A2	NM_000348.4(SRD5A2):c.591G>T:p.Glu197Asp	coding	Pathogenic
2	31529419	C	G	C31529419G	SRD5A2	NM_000348.4(SRD5A2):c.586G>C:p.Gly196Arg	coding	Pathogenic
2	31529427	T	C	T31529427C	SRD5A2	NM_000348.4(SRD5A2):c.578A>G:p.Asn193Ser	coding	Pathogenic
2	31531371	C	T	C31531371T	SRD5A2	NM_000348.4(SRD5A2):c.547G>A:p.Gly183Ser	coding	Pathogenic
2	31531376	G	A	G31531376A	SRD5A2	NM_000348.4(SRD5A2):c.542C>T:p.Pro181Leu	coding	Pathogenic
2	31531384	G	T	G31531384T	SRD5A2	NM_000348.4(SRD5A2):c.534C>A:p.Tyr178Ter	coding	Pathogenic
2	31531416	G	A	G31531416A	SRD5A2	NM_000348.4(SRD5A2):c.502C>T:p.Arg168Cys	coding	Benign
2	31531433	T	G	T31531433G	SRD5A2	NM_000348.4(SRD5A2):c.485A>C:p.His162Pro	coding	Pathogenic
2	31533671	T	C	T31533671C	SRD5A2	NM_000348.4(SRD5A2):c.377A>G:p.Gln126Arg	coding	Pathogenic
2	31533704	C	T	C31533704T	SRD5A2	NM_000348.4(SRD5A2):c.344G>A:p.Gly115Asp	coding	Pathogenic
2	31533711	G	C	G31533711C	SRD5A2	NM_000348.4(SRD5A2):c.337C>G:p.Leu113Val	coding	Benign
2	31533741	G	A	G31533741A	SRD5A2	NM_000348.4(SRD5A2):c.307C>T:p.Arg103Ter	coding	Pathogenic
2	31533768	T	C	T31533768C	SRD5A2	NM_000348.4(SRD5A2):c.282-2A>G	noncoding	Pathogenic
2	31580605	A	G	A31580605G	SRD5A2	NM_000348.4(SRD5A2):c.281+15T>C	noncoding	Benign
2	31580630	A	C	A31580630C	SRD5A2	NM_000348.4(SRD5A2):c.271T>G:p.Tyr91Asp	coding	Pathogenic
2	31580630	A	G	A31580630G	SRD5A2	NM_000348.4(SRD5A2):c.271T>C:p.Tyr91His	coding	Pathogenic
2	31580636	G	C	G31580636C	SRD5A2	NM_000348.4(SRD5A2):c.265C>G:p.Leu89Val	coding	Benign
2	31580637	G	C	G31580637C	SRD5A2	NM_000348.4(SRD5A2):c.264C>G:p.Cys88Trp	coding	Benign
2	31580690	G	A	G31580690A	SRD5A2	NM_000348.4(SRD5A2):c.211C>T:p.Gln71Ter	coding	Pathogenic
2	31580696	C	A	C31580696A	SRD5A2	NM_000348.4(SRD5A2):c.205G>T:p.Ala69Ser	coding	Pathogenic
2	31580732	C	G	C31580732G	SRD5A2	NM_000348.4(SRD5A2):c.169G>C:p.Glu57Gln	coding	Pathogenic
2	31580737	A	T	A31580737T	SRD5A2	NM_000348.4(SRD5A2):c.164T>A:p.Leu55Gln	coding	Pathogenic
2	31580756	C	T	C31580756T	SRD5A2	NM_000348.4(SRD5A2):c.145G>A:p.Ala49Thr	coding	Benign
2	31580801	C	G	C31580801G	SRD5A2	NM_000348.4(SRD5A2):c.100G>C:p.Gly34Arg	coding	Pathogenic
2	31580801	C	T	C31580801T	SRD5A2	NM_000348.4(SRD5A2):c.100G>A:p.Gly34Arg	coding	Pathogenic
2	31580806	C	A	C31580806A	SRD5A2	NM_000348.4(SRD5A2):c.95G>T:p.Gly32Val	coding	Benign
2	31580823	G	C	G31580823C	SRD5A2	NM_000348.4(SRD5A2):c.78C>G:p.Tyr26Ter	coding	Pathogenic
2	31580842	A	G	A31580842G	SRD5A2	NM_000348.4(SRD5A2):c.59T>C:p.Leu20Pro	coding	Pathogenic
2	31580885	G	A	G31580885A	SRD5A2	NM_000348.4(SRD5A2):c.16C>T:p.Gln6Ter	coding	Pathogenic
2	31580899	A	G	A31580899G	SRD5A2	NM_000348.4(SRD5A2):c.2T>C:p.Met1Thr	coding	Pathogenic
2	31580955	C	T	C31580955T	SRD5A2	NM_000348.3(SRD5A2):c.-55G>A	noncoding	Benign
2	31580962	C	G	C31580962G	SRD5A2	NM_000348.3(SRD5A2):c.-62G>C	noncoding	Benign
2	32063409	C	A	C32063409A	SPAST	NM_014946.3(SPAST):c.-423C>A	noncoding	Benign
2	32063958	G	T	G32063958T	SPAST	NM_014946.3(SPAST):c.127G>T:p.Glu43Ter	coding	Pathogenic
2	32063962	C	T	C32063962T	SPAST	NM_014946.3(SPAST):c.131C>T:p.Ser44Leu	coding	Benign/Likely_benign
2	32063987	T	A	T32063987A	SPAST	NM_014946.3(SPAST):c.156T>A:p.Tyr52Ter	coding	Pathogenic
2	32063987	T	G	T32063987G	SPAST	NM_014946.3(SPAST):c.156T>G:p.Tyr52Ter	coding	Pathogenic
2	32064069	C	T	C32064069T	SPAST	NM_014946.4(SPAST):c.238C>T:p.Gln80Ter	coding	Pathogenic
2	32064074	C	G	C32064074G	SPAST	NM_014946.3(SPAST):c.243C>G:p.Arg81=	coding	Benign
2	32064120	C	A	C32064120A	SPAST	NM_014946.3(SPAST):c.289C>A:p.Pro97Thr	coding	Benign/Likely_benign
2	32064133	C	A	C32064133A	SPAST	NM_014946.4(SPAST):c.302C>A:p.Ser101Ter	coding	Pathogenic
2	32064165	G	T	G32064165T	SPAST	NM_014946.3(SPAST):c.334G>T:p.Glu112Ter	coding	Pathogenic/Likely_pathogenic
2	32064195	C	T	C32064195T	SPAST	NM_014946.3(SPAST):c.364C>T:p.Gln122Ter	coding	Pathogenic
2	32064247	G	T	G32064247T	SPAST	NM_014946.3(SPAST):c.415+1G>T	coding	Pathogenic
2	32087497	C	T	C32087497T	SPAST	NM_014946.3(SPAST):c.421C>T:p.Gln141Ter	coding	Pathogenic
2	32087500	A	T	A32087500T	SPAST	NM_014946.4(SPAST):c.424A>T:p.Lys142Ter	coding	Pathogenic
2	32087519	G	A	G32087519A	SPAST	NM_014946.3(SPAST):c.443G>A:p.Trp148Ter	coding	Pathogenic
2	32087520	G	A	G32087520A	SPAST	NM_014946.3(SPAST):c.444G>A:p.Trp148Ter	coding	Pathogenic
2	32087560	G	A	G32087560A	SPAST	NM_014946.3(SPAST):c.484G>A:p.Val162Ile	coding	Benign/Likely_benign
2	32089527	C	T	C32089527T	SPAST	NM_014946.3(SPAST):c.508C>T:p.Gln170Ter	coding	Pathogenic
2	32114629	C	T	C32114629T	SPAST	NM_014946.3(SPAST):c.683-9C>T	noncoding	Benign/Likely_benign
2	32114637	G	C	G32114637C	SPAST	NM_014946.4(SPAST):c.683-1G>C	noncoding	Pathogenic
2	32114671	T	G	T32114671G	SPAST	NM_014946.4(SPAST):c.716T>G:p.Leu239Ter	coding	Pathogenic
2	32114689	C	G	C32114689G	SPAST	NM_014946.3(SPAST):c.734C>G:p.Ser245Ter	coding	Pathogenic
2	32114701	C	G	C32114701G	SPAST	NM_014946.3(SPAST):c.746C>G:p.Ser249Ter	coding	Pathogenic
2	32114737	C	A	C32114737A	SPAST	NM_014946.3(SPAST):c.782C>A:p.Ser261Ter	coding	Pathogenic
2	32114793	C	T	C32114793T	SPAST	NM_014946.3(SPAST):c.838C>T:p.Gln280Ter	coding	Pathogenic
2	32114796	G	T	G32114796T	SPAST	NM_014946.3(SPAST):c.841G>T:p.Gly281Ter	coding	Pathogenic
2	32114820	C	T	C32114820T	SPAST	NM_014946.3(SPAST):c.865C>T:p.His289Tyr	coding	Benign/Likely_benign
2	32114825	G	A	G32114825A	SPAST	NM_014946.3(SPAST):c.870G>A:p.Lys290=	coding	Pathogenic
2	32114826	G	A	G32114826A	SPAST	NM_014946.3(SPAST):c.870+1G>A	coding	Pathogenic
2	32114826	G	T	G32114826T	SPAST	NM_014946.4(SPAST):c.870+1G>T	coding	Pathogenic
2	32115413	C	G	C32115413G	SPAST	NM_014946.3(SPAST):c.871-289C>G	noncoding	Benign
2	32115700	A	T	A32115700T	SPAST	NM_014946.3(SPAST):c.871-2A>T	noncoding	Pathogenic
2	32115701	G	C	G32115701C	SPAST	NM_014946.3(SPAST):c.871-1G>C	noncoding	Pathogenic
2	32115709	C	T	C32115709T	SPAST	NM_014946.4(SPAST):c.878C>T:p.Pro293Leu	coding	Benign
2	32115710	G	A	G32115710A	SPAST	NM_014946.4(SPAST):c.879G>A:p.Pro293=	coding	Benign/Likely_benign
2	32115711	A	T	A32115711T	SPAST	NM_014946.4(SPAST):c.880A>T:p.Lys294Ter	coding	Pathogenic
2	32115759	A	T	A32115759T	SPAST	NM_014946.4(SPAST):c.928A>T:p.Lys310Ter	coding	Pathogenic
2	32115836	G	C	G32115836C	SPAST	NM_014946.4(SPAST):c.1004+1G>C	coding	Pathogenic
2	32116118	G	A	G32116118A	SPAST	NM_014946.3(SPAST):c.1005-1G>A	noncoding	Pathogenic
2	32116145	T	A	T32116145A	SPAST	NM_014946.3(SPAST):c.1031T>A:p.Ile344Lys	coding	Pathogenic
2	32116153	C	T	C32116153T	SPAST	NM_014946.3(SPAST):c.1039C>T:p.Gln347Ter	coding	Pathogenic
2	32116177	C	T	C32116177T	SPAST	NM_014946.4(SPAST):c.1063C>T:p.Gln355Ter	coding	Pathogenic
2	32116196	C	T	C32116196T	SPAST	NM_014946.4(SPAST):c.1082C>T:p.Pro361Leu	coding	Pathogenic
2	32116199	C	G	C32116199G	SPAST	NM_014946.3(SPAST):c.1085C>G:p.Ser362Cys	coding	Pathogenic
2	32116213	G	A	G32116213A	SPAST	NM_014946.4(SPAST):c.1098+1G>A	coding	Pathogenic
2	32126952	T	C	T32126952C	SPAST	NM_014946.3(SPAST):c.1103T>C:p.Phe368Ser	coding	Pathogenic
2	32126953	C	G	C32126953G	SPAST	NM_014946.4(SPAST):c.1104C>G:p.Phe368Leu	coding	Pathogenic
2	32126982	T	A	T32126982A	SPAST	NM_014946.3(SPAST):c.1133T>A:p.Leu378Gln	coding	Pathogenic
2	32127000	C	T	C32127000T	SPAST	NM_014946.3(SPAST):c.1151C>T:p.Pro384Leu	coding	Pathogenic
2	32127006	A	G	A32127006G	SPAST	NM_014946.3(SPAST):c.1157A>G:p.Asn386Ser	coding	Pathogenic
2	32127013	G	T	G32127013T	SPAST	NM_014946.3(SPAST):c.1164G>T:p.Lys388Asn	coding	Pathogenic
2	32127014	A	G	A32127014G	SPAST	NM_014946.3(SPAST):c.1165A>G:p.Thr389Ala	coding	Pathogenic
2	32127017	A	G	A32127017G	SPAST	NM_014946.3(SPAST):c.1168A>G:p.Met390Val	coding	Pathogenic
2	32127018	T	A	T32127018A	SPAST	NM_014946.3(SPAST):c.1169T>A:p.Met390Lys	coding	Pathogenic
2	32127023	G	A	G32127023A	SPAST	NM_014946.3(SPAST):c.1173+1G>A	coding	Pathogenic/Likely_pathogenic
2	32128119	T	C	T32128119C	SPAST	NM_014946.3(SPAST):c.1174-289T>C	noncoding	Benign
2	32128406	A	T	A32128406T	SPAST	NM_014946.3(SPAST):c.1174-2A>T	noncoding	Pathogenic
2	32128407	G	A	G32128407A	SPAST	NM_014946.3(SPAST):c.1174-1G>A	noncoding	Pathogenic
2	32128407	G	C	G32128407C	SPAST	NM_014946.3(SPAST):c.1174-1G>C	noncoding	Pathogenic
2	32128430	C	T	C32128430T	SPAST	NM_014946.3(SPAST):c.1196C>T:p.Ser399Leu	coding	Pathogenic/Likely_pathogenic
2	32128450	A	G	A32128450G	SPAST	NM_014946.3(SPAST):c.1216A>G:p.Ile406Val	coding	Pathogenic/Likely_pathogenic
2	32128472	C	T	C32128472T	SPAST	NM_014946.3(SPAST):c.1238C>T:p.Ser413Leu	coding	Pathogenic
2	32128480	G	A	G32128480A	SPAST	NM_014946.3(SPAST):c.1245+1G>A	coding	Pathogenic
2	32128483	A	G	A32128483G	SPAST	NM_014946.3(SPAST):c.1245+4A>G	noncoding	Pathogenic
2	32128485	T	G	T32128485G	SPAST	NM_014946.4(SPAST):c.1245+6T>G	noncoding	Pathogenic
2	32136569	G	T	G32136569T	SPAST	NM_014946.3(SPAST):c.1252G>T:p.Glu418Ter	coding	Pathogenic
2	32136593	C	G	C32136593G	SPAST	NM_014946.3(SPAST):c.1276C>G:p.Leu426Val	coding	Pathogenic
2	32136608	C	T	C32136608T	SPAST	NM_014946.3(SPAST):c.1291C>T:p.Arg431Ter	coding	Pathogenic
2	32136624	C	T	C32136624T	SPAST	NM_014946.3(SPAST):c.1307C>T:p.Ser436Phe	coding	Pathogenic
2	32136875	A	G	A32136875G	SPAST	NM_014946.4(SPAST):c.1322-2A>G	noncoding	Pathogenic
2	32136877	A	G	A32136877G	SPAST	NM_014946.3(SPAST):c.1322A>G:p.Asp441Gly	coding	Pathogenic
2	32136886	A	G	A32136886G	SPAST	NM_014946.3(SPAST):c.1331A>G:p.Asp444Gly	coding	Pathogenic
2	32136890	C	A	C32136890A	SPAST	NM_014946.3(SPAST):c.1335C>A:p.Ser445Arg	coding	Pathogenic
2	32136898	G	A	G32136898A	SPAST	NM_014946.3(SPAST):c.1343G>A:p.Cys448Tyr	coding	Pathogenic
2	32136915	G	A	G32136915A	SPAST	NM_014946.3(SPAST):c.1360G>A:p.Glu454Lys	coding	Pathogenic/Likely_pathogenic
2	32136930	A	G	A32136930G	SPAST	NM_014946.3(SPAST):c.1375A>G:p.Arg459Gly	coding	Pathogenic
2	32136933	C	T	C32136933T	SPAST	NM_014946.3(SPAST):c.1378C>T:p.Arg460Cys	coding	Pathogenic
2	32136934	G	A	G32136934A	SPAST	NM_014946.4(SPAST):c.1379G>A:p.Arg460His	coding	Pathogenic
2	32136945	G	T	G32136945T	SPAST	NM_014946.4(SPAST):c.1390G>T:p.Glu464Ter	coding	Pathogenic
2	32136964	A	T	A32136964T	SPAST	NM_014946.3(SPAST):c.1409A>T:p.Asp470Val	coding	Pathogenic
2	32136967	G	A	G32136967A	SPAST	NM_014946.3(SPAST):c.1412G>A:p.Gly471Asp	coding	Pathogenic
2	32136969	G	A	G32136969A	SPAST	NM_014946.3(SPAST):c.1413+1G>A	coding	Pathogenic
2	32136969	G	T	G32136969T	SPAST	NM_014946.3(SPAST):c.1413+1G>T	coding	Pathogenic
2	32136973	G	A	G32136973A	SPAST	NM_014946.3(SPAST):c.1413+5G>A	noncoding	Pathogenic
2	32137108	G	C	G32137108C	SPAST	NM_014946.3(SPAST):c.1414-1G>C	noncoding	Pathogenic
2	32137112	C	T	C32137112T	SPAST	NM_014946.3(SPAST):c.1417C>T:p.Gln473Ter	coding	Pathogenic
2	32137163	C	T	C32137163T	SPAST	NM_014946.4(SPAST):c.1468C>T:p.Gln490Ter	coding	Pathogenic
2	32137179	C	T	C32137179T	SPAST	NM_014946.3(SPAST):c.1484C>T:p.Ala495Val	coding	Pathogenic
2	32137189	G	A	G32137189A	SPAST	NM_014946.4(SPAST):c.1493+1G>A	coding	Pathogenic
2	32137190	T	A	T32137190A	SPAST	NM_014946.4(SPAST):c.1493+2T>A	noncoding	Pathogenic
2	32137194	G	A	G32137194A	SPAST	NM_014946.3(SPAST):c.1493+6G>A	noncoding	Benign/Likely_benign
2	32137206	G	T	G32137206T	SPAST	NM_014946.3(SPAST):c.1493+18G>T	noncoding	Benign/Likely_benign
2	32141902	A	C	A32141902C	SPAST	NM_014946.3(SPAST):c.1494-2A>C	noncoding	Pathogenic
2	32141902	A	G	A32141902G	SPAST	NM_014946.3(SPAST):c.1494-2A>G	noncoding	Pathogenic
2	32141904	G	C	G32141904C	SPAST	NM_014946.3(SPAST):c.1494G>C:p.Arg498Ser	coding	Pathogenic
2	32141905	C	T	C32141905T	SPAST	NM_014946.3(SPAST):c.1495C>T:p.Arg499Cys	coding	Pathogenic
2	32141917	C	T	C32141917T	SPAST	NM_014946.3(SPAST):c.1507C>T:p.Arg503Trp	coding	Pathogenic/Likely_pathogenic
2	32143335	G	A	G32143335A	SPAST	NM_014946.4(SPAST):c.1537-1G>A	noncoding	Pathogenic
2	32143339	A	G	A32143339G	SPAST	NM_014946.4(SPAST):c.1540A>G:p.Arg514Gly	coding	Pathogenic
2	32143372	C	T	C32143372T	SPAST	NM_014946.3(SPAST):c.1573C>T:p.Gln525Ter	coding	Pathogenic
2	32143385	T	A	T32143385A	SPAST	NM_014946.3(SPAST):c.1586T>A:p.Leu529Ter	coding	Pathogenic
2	32143392	A	G	A32143392G	SPAST	NM_014946.3(SPAST):c.1593A>G:p.Gln531=	coding	Benign/Likely_benign
2	32144935	A	G	A32144935G	SPAST	NM_014946.3(SPAST):c.1617-2A>G	noncoding	Pathogenic
2	32144936	G	A	G32144936A	SPAST	NM_014946.3(SPAST):c.1617-1G>A	noncoding	Pathogenic
2	32144957	G	A	G32144957A	SPAST	NM_014946.3(SPAST):c.1637G>A:p.Gly546Glu	coding	Pathogenic
2	32145004	C	G	C32145004G	SPAST	NM_014946.3(SPAST):c.1684C>G:p.Arg562Gly	coding	Pathogenic
2	32145004	C	T	C32145004T	SPAST	NM_014946.3(SPAST):c.1684C>T:p.Arg562Ter	coding	Pathogenic
2	32145005	G	A	G32145005A	SPAST	NM_014946.3(SPAST):c.1685G>A:p.Arg562Gln	coding	Pathogenic/Likely_pathogenic
2	32145275	C	T	C32145275T	SPAST	NM_014946.3(SPAST):c.1687+268C>T	noncoding	Benign
2	32147216	A	G	A32147216G	SPAST	NM_014946.3(SPAST):c.1688-2A>G	noncoding	Pathogenic
2	32147217	G	A	G32147217A	SPAST	NM_014946.3(SPAST):c.1688-1G>A	noncoding	Pathogenic
2	32147259	G	A	G32147259A	SPAST	NM_014946.3(SPAST):c.1728+1G>A	coding	Pathogenic
2	32147259	G	C	G32147259C	SPAST	NM_014946.3(SPAST):c.1728+1G>C	coding	Pathogenic
2	32154373	G	A	G32154373A	SPAST	NM_014946.3(SPAST):c.1729-1G>A	noncoding	Pathogenic
2	32154486	C	T	C32154486T	SPAST	NM_014946.3(SPAST):c.1841C>T:p.Thr614Ile	coding	Pathogenic
2	32154547	A	G	A32154547G	SPAST	NM_014946.3(SPAST):c.*51A>G	noncoding	Benign
2	32154594	A	G	A32154594G	SPAST	NM_014946.3(SPAST):c.*98A>G	noncoding	Benign
2	32154752	A	G	A32154752G	SPAST	NM_014946.3(SPAST):c.*256A>G	noncoding	Benign
2	32155087	A	T	A32155087T	SPAST	NM_014946.3(SPAST):c.*591A>T	noncoding	Benign
2	32155261	A	C	A32155261C	SPAST	NM_014946.3(SPAST):c.*765A>C	noncoding	Benign
2	32155315	C	T	C32155315T	SPAST	NM_014946.3(SPAST):c.*819C>T	noncoding	Benign
2	32155906	T	G	T32155906G	SPAST	NM_014946.3(SPAST):c.*1410T>G	noncoding	Benign
2	32155950	G	C	G32155950C	SPAST	NM_014946.3(SPAST):c.*1454G>C	noncoding	Benign
2	32156040	G	T	G32156040T	SPAST	NM_014946.3(SPAST):c.*1544G>T	noncoding	Benign
2	32156041	T	G	T32156041G	SPAST	NM_014946.3(SPAST):c.*1545T>G	noncoding	Benign
2	32156458	A	G	A32156458G	SPAST	NM_014946.3(SPAST):c.*1962A>G	noncoding	Benign
2	32156459	A	G	A32156459G	SPAST	NM_014946.3(SPAST):c.*1963A>G	noncoding	Benign
2	32156465	A	T	A32156465T	SPAST	NM_014946.3(SPAST):c.*1969A>T	noncoding	Benign
2	32156491	A	G	A32156491G	SPAST	NM_014946.3(SPAST):c.*1995A>G	noncoding	Benign
2	32156646	G	C	G32156646C	SPAST	NM_014946.3(SPAST):c.*2150G>C	noncoding	Benign
2	32156760	G	A	G32156760A	SPAST	NM_014946.3(SPAST):c.*2264G>A	noncoding	Benign
2	32156814	G	A	G32156814A	SPAST	NM_014946.3(SPAST):c.*2318G>A	noncoding	Benign
2	32156895	C	T	C32156895T	SPAST	NM_014946.3(SPAST):c.*2399C>T	noncoding	Benign
2	32156929	A	G	A32156929G	SPAST	NM_014946.3(SPAST):c.*2433A>G	noncoding	Benign
2	32157079	C	T	C32157079T	SPAST	NM_014946.3(SPAST):c.*2583C>T	noncoding	Benign
2	32157085	T	G	T32157085G	SPAST	NM_014946.3(SPAST):c.*2589T>G	noncoding	Benign
2	32157509	T	C	T32157509C	SPAST	NM_014946.3(SPAST):c.*3013T>C	noncoding	Benign
2	32224763	C	A	C32224763A	NLRC4	NM_001199138.2(NLRC4):c.2785G>T:p.Ala929Ser	coding	Benign
2	32235443	A	G	A32235443G	NLRC4	NM_001199138.2(NLRC4):c.2740T>C:p.Leu914=	coding	Benign/Likely_benign
2	32235456	G	A	G32235456A	NLRC4	NM_001199138.2(NLRC4):c.2727C>T:p.Leu909=	coding	Benign
2	32235515	A	G	A32235515G	NLRC4	NM_001199138.2(NLRC4):c.2668T>C:p.Cys890Arg	coding	Benign
2	32235555	G	A	G32235555A	NLRC4	NM_001199138.2(NLRC4):c.2628C>T:p.Asn876=	coding	Benign/Likely_benign
2	32249994	A	T	A32249994T	NLRC4	NM_001199138.2(NLRC4):c.1870T>A:p.Trp624Arg	coding	Benign
2	32250040	G	A	G32250040A	NLRC4	NM_001199138.2(NLRC4):c.1824C>T:p.Ala608=	coding	Benign
2	32250181	T	C	T32250181C	NLRC4	NM_001199138.2(NLRC4):c.1683A>G:p.Leu561=	coding	Benign
2	32250300	A	G	A32250300G	NLRC4	NM_001199138.2(NLRC4):c.1564T>C:p.Ser522Pro	coding	Benign
2	32250322	T	C	T32250322C	NLRC4	NM_001199138.2(NLRC4):c.1542A>G:p.Gln514=	coding	Benign
2	32250484	C	T	C32250484T	NLRC4	NM_001199138.2(NLRC4):c.1380G>A:p.Thr460=	coding	Benign
2	32250536	T	G	T32250536G	NLRC4	NM_001199138.2(NLRC4):c.1328A>C:p.His443Pro	coding	Pathogenic
2	32250616	C	T	C32250616T	NLRC4	NM_001199138.2(NLRC4):c.1248G>A:p.Val416=	coding	Benign
2	32250742	G	A	G32250742A	NLRC4	NM_001199138.2(NLRC4):c.1122C>T:p.Asn374=	coding	Benign
2	32250781	C	T	C32250781T	NLRC4	NM_001199138.2(NLRC4):c.1083G>A:p.Thr361=	coding	Benign
2	32250842	A	G	A32250842G	NLRC4	NM_001199138.2(NLRC4):c.1022T>C:p.Val341Ala	coding	Pathogenic
2	32250855	T	A	T32250855A	NLRC4	NM_001199138.2(NLRC4):c.1009A>T:p.Thr337Ser	coding	Pathogenic
2	32251232	C	T	C32251232T	NLRC4	NM_001199138.2(NLRC4):c.632G>A:p.Gly211Glu	coding	Benign
2	32251321	T	G	T32251321G	NLRC4	NM_001199138.2(NLRC4):c.543A>C:p.Arg181=	coding	Benign
2	32251431	G	A	G32251431A	NLRC4	NM_001199138.2(NLRC4):c.433C>T:p.His145Tyr	coding	Benign
2	32414845	A	G	A32414845G	BIRC6	NM_016252.3(BIRC6):c.1554A>G:p.Lys518=	coding	Benign
2	32415626	A	C	A32415626C	BIRC6	NM_016252.3(BIRC6):c.2335A>C:p.Arg779=	coding	Benign
2	32431085	C	T	C32431085T	BIRC6	NM_016252.3(BIRC6):c.3243C>T:p.Thr1081=	coding	Benign
2	32433719	C	T	C32433719T	BIRC6	NM_016252.3(BIRC6):c.3324C>T:p.Phe1108=	coding	Benign
2	32442148	A	T	A32442148T	BIRC6	NM_016252.3(BIRC6):c.4028A>T:p.Gln1343Leu	coding	Benign
2	32442221	C	T	C32442221T	BIRC6	NM_016252.3(BIRC6):c.4101C>T:p.Pro1367=	coding	Benign
2	32443563	A	G	A32443563G	BIRC6	NM_016252.3(BIRC6):c.4311A>G:p.Ser1437=	coding	Benign
2	32448816	A	G	A32448816G	BIRC6	NM_016252.3(BIRC6):c.4506A>G:p.Pro1502=	coding	Benign
2	32453836	T	A	T32453836A	BIRC6	NM_016252.3(BIRC6):c.4647T>A:p.Ala1549=	coding	Benign
2	32464761	G	A	G32464761A	BIRC6	NM_016252.3(BIRC6):c.5194G>A:p.Val1732Ile	coding	Benign
2	32464770	C	G	C32464770G	BIRC6	NM_016252.3(BIRC6):c.5203C>G:p.Pro1735Ala	coding	Benign
2	32464774	C	T	C32464774T	BIRC6	NM_016252.3(BIRC6):c.5207C>T:p.Pro1736Leu	coding	Benign
2	32477493	G	A	G32477493A	BIRC6	NM_016252.3(BIRC6):c.6978G>A:p.Glu2326=	coding	Benign
2	32491450	T	G	T32491450G	BIRC6	NM_016252.3(BIRC6):c.8232T>G:p.Thr2744=	coding	Benign
2	32510566	C	G	C32510566G	BIRC6	NM_016252.3(BIRC6):c.10278C>G:p.Leu3426=	coding	Benign
2	32515228	C	G	C32515228G	BIRC6	NM_016252.3(BIRC6):c.10807C>G:p.Leu3603Val	coding	Benign
2	32518906	A	G	A32518906G	BIRC6	NM_016252.3(BIRC6):c.11583A>G:p.Pro3861=	coding	Benign
2	32547915	G	A	G32547915A	BIRC6	NM_016252.3(BIRC6):c.12876G>A:p.Gly4292=	coding	Benign
2	32547945	T	C	T32547945C	BIRC6	NM_016252.3(BIRC6):c.12906T>C:p.Ser4302=	coding	Benign
2	32549438	C	T	C32549438T	BIRC6	NM_016252.3(BIRC6):c.13101C>T:p.Ser4367=	coding	Benign
2	32593943	G	A	G32593943A	BIRC6	NM_016252.3(BIRC6):c.13384G>A:p.Val4462Ile	coding	Benign
2	32593957	G	A	G32593957A	BIRC6	NM_016252.3(BIRC6):c.13398G>A:p.Ala4466=	coding	Benign
2	32597951	C	A	C32597951A	BIRC6	NM_016252.3(BIRC6):c.13813C>A:p.Arg4605=	coding	Benign
2	32597959	T	C	T32597959C	BIRC6	NM_016252.3(BIRC6):c.13821T>C:p.Asp4607=	coding	Benign
2	33188841	T	C	T33188841C	LTBP1	NM_206943.3(LTBP1):c.1691T>C:p.Ile564Thr	coding	Benign
2	33257364	G	A	G33257364A	LTBP1	NM_206943.3(LTBP1):c.2248G>A:p.Val750Ile	coding	Benign
2	33262794	A	G	A33262794G	LTBP1	NM_206943.3(LTBP1):c.2491A>G:p.Thr831Ala	coding	Benign
2	33263290	A	G	A33263290G	LTBP1	NM_206943.3(LTBP1):c.2519-4A>G	noncoding	Benign
2	33274972	T	C	T33274972C	LTBP1	NM_206943.3(LTBP1):c.2751T>C:p.Asp917=	coding	Benign
2	33275889	C	T	C33275889T	LTBP1	NM_206943.3(LTBP1):c.2958C>T:p.Ser986=	coding	Benign
2	33280135	G	A	G33280135A	LTBP1	NM_206943.3(LTBP1):c.3089G>A:p.Arg1030Gln	coding	Benign
2	33300491	G	T	G33300491T	LTBP1	NM_206943.3(LTBP1):c.3276G>T:p.Gly1092=	coding	Benign
2	33315242	A	G	A33315242G	LTBP1	NM_206943.3(LTBP1):c.3703A>G:p.Ile1235Val	coding	Benign
2	33342904	C	T	C33342904T	LTBP1	NM_206943.3(LTBP1):c.3797C>T:p.Ser1266Phe	coding	Benign
2	33397215	C	G	C33397215G	LTBP1	NM_206943.3(LTBP1):c.4917C>G:p.Val1639=	coding	Benign
2	33522003	C	T	C33522003T	RASGRP3	NM_001139488.2(RASGRP3):c.417C>T:p.Ser139=	coding	Benign
2	36356616	T	C	T36356616C	CRIM1	NM_016441.3(CRIM1):c.324T>C:p.Val108=	coding	Benign
2	36356628	G	A	G36356628A	CRIM1	NM_016441.3(CRIM1):c.331+5G>A	noncoding	Benign
2	36441451	A	G	A36441451G	CRIM1	NM_016441.3(CRIM1):c.699A>G:p.Lys233=	coding	Benign
2	36442673	C	G	C36442673G	CRIM1	NM_016441.3(CRIM1):c.807C>G:p.Pro269=	coding	Benign
2	36476974	C	T	C36476974T	CRIM1	NM_016441.3(CRIM1):c.1077C>T:p.Cys359=	coding	Benign
2	36479528	C	G	C36479528G	CRIM1	NM_016441.3(CRIM1):c.1206C>G:p.Gly402=	coding	Benign
2	36479627	G	A	G36479627A	CRIM1	NM_016441.3(CRIM1):c.1305G>A:p.Ala435=	coding	Benign
2	36479645	C	G	C36479645G	CRIM1	NM_016441.3(CRIM1):c.1323C>G:p.Thr441=	coding	Benign
2	36499357	C	G	C36499357G	CRIM1	NM_016441.3(CRIM1):c.1501+10C>G	noncoding	Benign
2	36513644	C	T	C36513644T	CRIM1	NM_016441.3(CRIM1):c.1869C>T:p.His623=	coding	Benign
2	36544482	C	T	C36544482T	CRIM1	NM_016441.3(CRIM1):c.2730C>T:p.Ile910=	coding	Benign
2	36548576	A	G	A36548576G	CRIM1	NM_016441.3(CRIM1):c.2986A>G:p.Arg996Gly	coding	Benign
2	36773813	C	G	C36773813G	VIT	NM_053276.4(VIT):c.702C>G:p.Tyr234Ter	coding	Benign
2	37126321	A	G	A37126321G	EIF2AK2	NM_001135651.3(EIF2AK2):c.876T>C:p.Thr292=	coding	Benign
2	37231670	G	C	G37231670C	NDUFAF7	NM_144736.5(NDUFAF7):c.-36G>C	noncoding	Benign
2	37231755	G	A	G37231755A	NDUFAF7	NM_144736.5(NDUFAF7):c.50G>A:p.Arg17His	coding	Benign
2	37232065	C	T	C37232065T	NDUFAF7	NM_144736.5(NDUFAF7):c.56-41C>T	noncoding	Benign
2	37232165	C	G	C37232165G	NDUFAF7	NM_144736.5(NDUFAF7):c.115C>G:p.Pro39Ala	coding	Benign
2	37232527	G	T	G37232527T	NDUFAF7	NM_144736.5(NDUFAF7):c.216+261G>T	noncoding	Benign
2	37237883	A	C	A37237883C	NDUFAF7	NM_144736.5(NDUFAF7):c.408+16A>C	noncoding	Benign
2	37241305	T	G	T37241305G	NDUFAF7	NM_144736.5(NDUFAF7):c.409-273T>G	noncoding	Benign
2	37241421	G	T	G37241421T	NDUFAF7	NM_144736.5(NDUFAF7):c.409-157G>T	noncoding	Benign
2	37241694	G	A	G37241694A	NDUFAF7	NM_144736.5(NDUFAF7):c.525G>A:p.Pro175=	coding	Benign
2	37242707	A	T	A37242707T	NDUFAF7	NM_144736.5(NDUFAF7):c.681+14A>T	noncoding	Benign
2	37243971	C	A	C37243971A	NDUFAF7	NM_144736.5(NDUFAF7):c.790C>A:p.Gln264Lys	coding	Benign
2	37246442	T	C	T37246442C	NDUFAF7	NM_144736.5(NDUFAF7):c.936+247T>C	noncoding	Benign
2	37246512	A	C	A37246512C	NDUFAF7	NM_144736.5(NDUFAF7):c.936+317A>C	noncoding	Benign
2	37247437	T	G	T37247437G	NDUFAF7	NM_144736.5(NDUFAF7):c.937-19T>G	noncoding	Benign
2	37247971	C	G	C37247971G	NDUFAF7	NM_144736.5(NDUFAF7):c.1111-164C>G	noncoding	Benign
2	37248130	T	C	T37248130C	NDUFAF7	NM_144736.5(NDUFAF7):c.1111-5T>C	noncoding	Benign
2	37372799	T	C	T37372799C	QPCT	NM_012413.4(QPCT):c.1058T>C:p.Val353Ala	coding	Benign
2	37951734	A	G	A37951734G	RMDN2	NM_001170791.3(RMDN2):c.452+22005A>G	coding	Benign
2	37951929	G	A	G37951929A	RMDN2	NM_001170791.3(RMDN2):c.453-22111G>A	coding	Benign
2	38068313	T	A	T38068313A	CYP1B1	NM_000104.3(CYP1B1):c.*2409A>T	noncoding	Benign
2	38068851	G	A	G38068851A	CYP1B1	NM_000104.3(CYP1B1):c.*1871C>T	noncoding	Benign
2	38069747	T	C	T38069747C	CYP1B1	NM_000104.3(CYP1B1):c.*975A>G	noncoding	Benign
2	38070027	C	A	C38070027A	CYP1B1	NM_000104.3(CYP1B1):c.*695G>T	noncoding	Benign
2	38070372	G	T	G38070372T	CYP1B1	NM_000104.3(CYP1B1):c.*350C>A	noncoding	Benign
2	38070894	A	G	A38070894G	CYP1B1	NM_000104.4(CYP1B1):c.1460T>C:p.Leu487Pro	coding	Pathogenic
2	38070949	G	A	G38070949A	CYP1B1	NM_000104.3(CYP1B1):c.1405C>T:p.Arg469Trp	coding	Pathogenic
2	38070962	T	A	T38070962A	CYP1B1	NM_000104.3(CYP1B1):c.1392A>T:p.Ser464=	coding	Benign
2	38070996	T	C	T38070996C	CYP1B1	NM_000104.3(CYP1B1):c.1358A>G:p.Asn453Ser	coding	Benign/Likely_benign
2	38071007	A	G	A38071007G	CYP1B1	NM_000104.3(CYP1B1):c.1347T>C:p.Asp449=	coding	Benign
2	38071023	C	T	C38071023T	CYP1B1	NM_000104.3(CYP1B1):c.1331G>A:p.Arg444Gln	coding	Pathogenic
2	38071024	G	A	G38071024A	CYP1B1	NM_000104.3(CYP1B1):c.1330C>T:p.Arg444Ter	coding	Pathogenic
2	38071026	G	C	G38071026C	CYP1B1	NM_000104.3(CYP1B1):c.1328C>G:p.Ala443Gly	coding	Benign/Likely_benign
2	38071052	C	T	C38071052T	CYP1B1	NM_000104.3(CYP1B1):c.1302G>A:p.Trp434Ter	coding	Pathogenic
2	38071060	G	C	G38071060C	CYP1B1	NM_000104.3(CYP1B1):c.1294C>G:p.Leu432Val	coding	Benign
2	38071087	T	A	T38071087A	CYP1B1	NM_000104.3(CYP1B1):c.1267A>T:p.Asn423Tyr	coding	Pathogenic
2	38071185	C	T	C38071185T	CYP1B1	NM_000104.3(CYP1B1):c.1169G>A:p.Arg390His	coding	Pathogenic/Likely_pathogenic
2	38071195	C	T	C38071195T	CYP1B1	NM_000104.3(CYP1B1):c.1159G>A:p.Glu387Lys	coding	Pathogenic
2	38071261	C	A	C38071261A	CYP1B1	NM_000104.3(CYP1B1):c.1093G>T:p.Gly365Trp	coding	Pathogenic
2	38071313	G	C	G38071313C	CYP1B1	NM_000104.4(CYP1B1):c.1044-3C>G	noncoding	Pathogenic
2	38074606	G	T	G38074606T	CYP1B1	NM_000104.3(CYP1B1):c.783C>A:p.Phe261Leu	coding	Pathogenic
2	38074660	C	G	C38074660G	CYP1B1	NM_000104.3(CYP1B1):c.729G>C:p.Val243=	coding	Benign
2	38074695	C	G	C38074695G	CYP1B1	NM_000104.3(CYP1B1):c.694G>C:p.Gly232Arg	coding	Pathogenic
2	38074795	G	A	G38074795A	CYP1B1	NM_000104.3(CYP1B1):c.594C>T:p.Val198=	coding	Benign
2	38074825	G	T	G38074825T	CYP1B1	NM_000104.3(CYP1B1):c.564C>A:p.Gly188=	coding	Benign
2	38074872	C	T	C38074872T	CYP1B1	NM_000104.4(CYP1B1):c.517G>A:p.Glu173Lys	coding	Pathogenic
2	38075034	C	A	C38075034A	CYP1B1	NM_000104.3(CYP1B1):c.355G>T:p.Ala119Ser	coding	Benign
2	38075207	C	T	C38075207T	CYP1B1	NM_000104.3(CYP1B1):c.182G>A:p.Gly61Glu	coding	Pathogenic
2	38075218	C	T	C38075218T	CYP1B1	NM_000104.3(CYP1B1):c.171G>A:p.Trp57Ter	coding	Pathogenic
2	38075247	G	C	G38075247C	CYP1B1	NM_000104.3(CYP1B1):c.142C>G:p.Arg48Gly	coding	Benign
2	38075387	A	G	A38075387G	CYP1B1	NM_000104.3(CYP1B1):c.2T>C:p.Met1Thr	coding	Pathogenic
2	38075401	G	A	G38075401A	CYP1B1	NM_000104.3(CYP1B1):c.-1-12C>T	noncoding	Benign
2	38075792	G	A	G38075792A	CYP1B1	NM_000104.3(CYP1B1):c.-14C>T	noncoding	Benign
2	38076063	G	A	G38076063A	CYP1B1	NM_000104.3(CYP1B1):c.-285C>T	noncoding	Pathogenic
2	38300305	T	A	T38300305A	ATL2	NM_001135673.4(ATL2):c.1095A>T:p.Gly365=	coding	Benign
2	38981603	G	A	G38981603A	SOS1	NM_005633.3(SOS1):c.*4221C>T	noncoding	Benign/Likely_benign
2	38981906	A	G	A38981906G	SOS1	NM_005633.3(SOS1):c.*3918T>C	noncoding	Benign
2	38982100	A	G	A38982100G	SOS1	NM_005633.3(SOS1):c.*3724T>C	noncoding	Benign
2	38982232	G	A	G38982232A	SOS1	NM_005633.3(SOS1):c.*3592C>T	noncoding	Benign/Likely_benign
2	38982255	A	G	A38982255G	SOS1	NM_005633.4(SOS1):c.*3569T>C	noncoding	Benign/Likely_benign
2	38982285	A	G	A38982285G	SOS1	NM_005633.3(SOS1):c.*3539T>C	noncoding	Benign
2	38982366	T	G	T38982366G	SOS1	NM_005633.4(SOS1):c.*3458A>C	noncoding	Benign/Likely_benign
2	38982457	C	T	C38982457T	SOS1	NM_005633.4(SOS1):c.*3367G>A	noncoding	Benign/Likely_benign
2	38982841	G	A	G38982841A	SOS1	NM_005633.3(SOS1):c.*2983C>T	noncoding	Benign/Likely_benign
2	38983250	T	C	T38983250C	SOS1	NM_005633.4(SOS1):c.*2574A>G	noncoding	Benign/Likely_benign
2	38983257	A	T	A38983257T	SOS1	NM_005633.3(SOS1):c.*2567T>A	noncoding	Benign
2	38983307	G	A	G38983307A	SOS1	NM_005633.4(SOS1):c.*2517C>T	noncoding	Benign/Likely_benign
2	38983664	G	A	G38983664A	SOS1	NM_005633.4(SOS1):c.*2160C>T	noncoding	Benign/Likely_benign
2	38983686	C	A	C38983686A	SOS1	NM_005633.4(SOS1):c.*2138G>T	noncoding	Benign/Likely_benign
2	38983980	T	C	T38983980C	SOS1	NM_005633.3(SOS1):c.*1844A>G	noncoding	Benign
2	38984093	T	C	T38984093C	SOS1	NM_005633.3(SOS1):c.*1731A>G	noncoding	Benign/Likely_benign
2	38984272	A	T	A38984272T	SOS1	NM_005633.3(SOS1):c.*1552T>A	noncoding	Benign/Likely_benign
2	38984308	C	T	C38984308T	SOS1	NM_005633.3(SOS1):c.*1516G>A	noncoding	Benign/Likely_benign
2	38984739	T	C	T38984739C	SOS1	NM_005633.4(SOS1):c.*1085A>G	noncoding	Benign/Likely_benign
2	38985019	G	T	G38985019T	SOS1	NM_005633.3(SOS1):c.*805C>A	noncoding	Benign
2	38985496	T	C	T38985496C	SOS1	NM_005633.3(SOS1):c.*328A>G	noncoding	Benign
2	38985780	A	G	A38985780G	SOS1	NM_005633.4(SOS1):c.*44T>C	noncoding	Benign/Likely_benign
2	38985820	G	A	G38985820A	SOS1	NM_005633.3(SOS1):c.*4C>T	noncoding	Benign
2	38986120	G	T	G38986120T	SOS1	NM_005633.3(SOS1):c.3706C>A:p.Pro1236Thr	coding	Benign/Likely_benign
2	38986274	A	C	A38986274C	SOS1	NM_005633.3(SOS1):c.3552T>G:p.Pro1184=	coding	Benign
2	38989263	T	C	T38989263C	SOS1	NM_005633.3(SOS1):c.3391+7A>G	noncoding	Benign
2	38989267	A	G	A38989267G	SOS1	NM_005633.3(SOS1):c.3391+3T>C	noncoding	Benign
2	38989304	G	A	G38989304A	SOS1	NM_005633.3(SOS1):c.3357C>T:p.Thr1119=	coding	Benign/Likely_benign
2	38989334	A	C	A38989334C	SOS1	NM_005633.3(SOS1):c.3347-20T>G	noncoding	Benign
2	38989632	T	C	T38989632C	SOS1	NM_005633.3(SOS1):c.3347-318A>G	noncoding	Benign
2	38995335	G	C	G38995335C	SOS1	NM_005633.4(SOS1):c.3134C>G:p.Pro1045Arg	coding	Pathogenic
2	38996890	T	C	T38996890C	SOS1	NM_005633.3(SOS1):c.3081+32A>G	noncoding	Benign
2	38996896	C	T	C38996896T	SOS1	NM_005633.3(SOS1):c.3081+26G>A	noncoding	Benign
2	38996909	T	C	T38996909C	SOS1	NM_005633.3(SOS1):c.3081+13A>G	noncoding	Benign
2	38996931	G	A	G38996931A	SOS1	NM_005633.3(SOS1):c.3072C>T:p.Leu1024=	coding	Benign
2	38996971	T	C	T38996971C	SOS1	NM_005633.3(SOS1):c.3032A>G:p.Asn1011Ser	coding	Benign
2	38997006	A	G	A38997006G	SOS1	NM_005633.3(SOS1):c.2997T>C:p.Asn999=	coding	Benign
2	38997015	C	T	C38997015T	SOS1	NM_005633.3(SOS1):c.2988G>A:p.Pro996=	coding	Benign
2	38997210	G	T	G38997210T	SOS1	NM_005633.3(SOS1):c.2964+43C>A	noncoding	Benign
2	38997221	A	C	A38997221C	SOS1	NM_005633.3(SOS1):c.2964+32T>G	noncoding	Benign
2	38997236	T	C	T38997236C	SOS1	NM_005633.3(SOS1):c.2964+17A>G	noncoding	Benign
2	39006359	G	A	G39006359A	SOS1	NM_005633.3(SOS1):c.2791+53C>T	noncoding	Benign
2	39006443	C	T	C39006443T	SOS1	NM_005633.3(SOS1):c.2760G>A:p.Arg920=	coding	Benign
2	39007017	A	G	A39007017G	SOS1	NM_005633.3(SOS1):c.2673+14T>C	noncoding	Benign
2	39007168	C	T	C39007168T	SOS1	NM_005633.3(SOS1):c.2536G>A:p.Glu846Lys	coding	Pathogenic
2	39012145	G	T	G39012145T	SOS1	NM_005633.3(SOS1):c.2371C>A:p.Leu791Ile	coding	Benign
2	39012278	A	G	A39012278G	SOS1	NM_005633.3(SOS1):c.2238T>C:p.Asn746=	coding	Benign
2	39012319	T	A	T39012319A	SOS1	NM_005633.3(SOS1):c.2197A>T:p.Ile733Phe	coding	Pathogenic/Likely_pathogenic
2	39012333	T	A	T39012333A	SOS1	NM_005633.3(SOS1):c.2183A>T:p.Lys728Ile	coding	Pathogenic/Likely_pathogenic
2	39013454	A	C	A39013454C	SOS1	NM_005633.3(SOS1):c.2167+6T>G	noncoding	Benign
2	39013505	C	T	C39013505T	SOS1	NM_005633.3(SOS1):c.2122G>A:p.Ala708Thr	coding	Benign
2	39013523	A	G	A39013523G	SOS1	NM_005633.3(SOS1):c.2104T>C:p.Tyr702His	coding	Pathogenic
2	39013920	C	G	C39013920G	SOS1	NM_005633.3(SOS1):c.2010G>C:p.Leu670Phe	coding	Benign
2	39013966	G	A	G39013966A	SOS1	NM_005633.3(SOS1):c.1964C>T:p.Pro655Leu	coding	Benign
2	39013968	C	T	C39013968T	SOS1	NM_005633.3(SOS1):c.1962G>A:p.Glu654=	coding	Benign/Likely_benign
2	39013977	T	C	T39013977C	SOS1	NM_005633.3(SOS1):c.1953A>G:p.Pro651=	coding	Benign/Likely_benign
2	39014033	G	A	G39014033A	SOS1	NM_005633.3(SOS1):c.1941-44C>T	noncoding	Benign
2	39022268	C	G	C39022268G	SOS1	NM_005633.3(SOS1):c.1858+302G>C	noncoding	Benign
2	39022428	T	C	T39022428C	SOS1	NM_005633.3(SOS1):c.1858+142A>G	noncoding	Benign
2	39022574	G	A	G39022574A	SOS1	NM_005633.3(SOS1):c.1854C>T:p.Tyr618=	coding	Benign/Likely_benign
2	39022656	T	C	T39022656C	SOS1	NM_005633.3(SOS1):c.1772A>G:p.Asn591Ser	coding	Benign
2	39022658	C	T	C39022658T	SOS1	NM_005633.3(SOS1):c.1770G>A:p.Glu590=	coding	Benign
2	39022772	C	A	C39022772A	SOS1	NM_005633.3(SOS1):c.1656G>T:p.Arg552Ser	coding	Pathogenic
2	39022772	C	G	C39022772G	SOS1	NM_005633.3(SOS1):c.1656G>C:p.Arg552Ser	coding	Pathogenic
2	39022773	C	G	C39022773G	SOS1	NM_005633.3(SOS1):c.1655G>C:p.Arg552Thr	coding	Pathogenic
2	39022773	C	T	C39022773T	SOS1	NM_005633.3(SOS1):c.1655G>A:p.Arg552Lys	coding	Pathogenic
2	39022774	T	C	T39022774C	SOS1	NM_005633.3(SOS1):c.1654A>G:p.Arg552Gly	coding	Pathogenic
2	39022779	A	G	A39022779G	SOS1	NM_005633.3(SOS1):c.1649T>C:p.Leu550Pro	coding	Pathogenic
2	39022784	A	T	A39022784T	SOS1	NM_005633.3(SOS1):c.1644T>A:p.Ser548Arg	coding	Pathogenic
2	39022786	T	G	T39022786G	SOS1	NM_005633.3(SOS1):c.1642A>C:p.Ser548Arg	coding	Pathogenic
2	39022862	A	G	A39022862G	SOS1	NM_005633.3(SOS1):c.1566T>C:p.Asn522=	coding	Benign/Likely_benign
2	39022998	T	C	T39022998C	SOS1	NM_005633.3(SOS1):c.1430A>G:p.Gln477Arg	coding	Pathogenic
2	39023106	C	T	C39023106T	SOS1	NM_005633.3(SOS1):c.1322G>A:p.Cys441Tyr	coding	Pathogenic
2	39023118	A	C	A39023118C	SOS1	NM_005633.3(SOS1):c.1310T>G:p.Ile437Ser	coding	Pathogenic
2	39023118	A	G	A39023118G	SOS1	NM_005633.3(SOS1):c.1310T>C:p.Ile437Thr	coding	Pathogenic/Likely_pathogenic
2	39023128	C	G	C39023128G	SOS1	NM_005633.3(SOS1):c.1300G>C:p.Gly434Arg	coding	Pathogenic
2	39023128	C	T	C39023128T	SOS1	NM_005633.3(SOS1):c.1300G>A:p.Gly434Arg	coding	Pathogenic
2	39023131	C	T	C39023131T	SOS1	NM_005633.3(SOS1):c.1297G>A:p.Glu433Lys	coding	Pathogenic
2	39023134	A	G	A39023134G	SOS1	NM_005633.3(SOS1):c.1294T>C:p.Trp432Arg	coding	Pathogenic
2	39023198	C	T	C39023198T	SOS1	NM_005633.3(SOS1):c.1230G>A:p.Gln410=	coding	Benign
2	39023245	A	G	A39023245G	SOS1	NM_005633.3(SOS1):c.1203-20T>C	noncoding	Benign
2	39023532	A	G	A39023532G	SOS1	NM_005633.3(SOS1):c.1203-307T>C	noncoding	Benign
2	39024080	T	C	T39024080C	SOS1	NM_005633.3(SOS1):c.1132A>G:p.Thr378Ala	coding	Pathogenic/Likely_pathogenic
2	39034927	C	T	C39034927T	SOS1	NM_005633.3(SOS1):c.1074+285G>A	noncoding	Benign
2	39035207	C	G	C39035207G	SOS1	NM_005633.3(SOS1):c.1074+5G>C	noncoding	Benign
2	39035268	G	A	G39035268A	SOS1	NM_005633.3(SOS1):c.1018C>T:p.Pro340Ser	coding	Benign
2	39035440	C	A	C39035440A	SOS1	NM_005633.3(SOS1):c.925G>T:p.Asp309Tyr	coding	Pathogenic
2	39050925	C	T	C39050925T	SOS1	NM_005633.3(SOS1):c.864+219G>A	noncoding	Benign
2	39051202	A	C	A39051202C	SOS1	NM_005633.3(SOS1):c.806T>G:p.Met269Arg	coding	Pathogenic
2	39051202	A	G	A39051202G	SOS1	NM_005633.3(SOS1):c.806T>C:p.Met269Thr	coding	Pathogenic
2	39051211	G	T	G39051211T	SOS1	NM_005633.3(SOS1):c.797C>A:p.Thr266Lys	coding	Pathogenic
2	39051259	A	G	A39051259G	SOS1	NM_005633.3(SOS1):c.749T>C:p.Val250Ala	coding	Benign
2	39054589	G	C	G39054589C	SOS1	NM_005633.3(SOS1):c.720+25C>G	noncoding	Benign
2	39054764	G	A	G39054764A	SOS1	NM_005633.3(SOS1):c.570C>T:p.Asp190=	coding	Benign
2	39054781	T	C	T39054781C	SOS1	NM_005633.3(SOS1):c.553A>G:p.Ile185Val	coding	Benign
2	39056693	G	C	G39056693C	SOS1	NM_005633.3(SOS1):c.510+9C>G	noncoding	Benign
2	39056704	T	C	T39056704C	SOS1	NM_005633.3(SOS1):c.508A>G:p.Lys170Glu	coding	Pathogenic
2	39058658	G	A	G39058658A	SOS1	NM_005633.3(SOS1):c.345+15C>T	noncoding	Benign
2	39058696	C	T	C39058696T	SOS1	NM_005633.3(SOS1):c.322G>A:p.Glu108Lys	coding	Pathogenic
2	39058765	A	T	A39058765T	SOS1	NM_005633.3(SOS1):c.253T>A:p.Trp85Arg	coding	Pathogenic
2	39067612	A	G	A39067612G	SOS1	NM_005633.3(SOS1):c.213+16T>C	noncoding	Benign/Likely_benign
2	39067646	T	G	T39067646G	SOS1	NM_005633.3(SOS1):c.195A>C:p.Arg65=	coding	Benign
2	39067700	A	G	A39067700G	SOS1	NM_005633.3(SOS1):c.141T>C:p.Tyr47=	coding	Benign
2	39120327	G	A	G39120327A	SOS1	NM_005633.3(SOS1):c.87+9C>T	noncoding	Benign/Likely_benign
2	39120350	G	A	G39120350A	SOS1	NM_005633.3(SOS1):c.73C>T:p.Pro25Ser	coding	Benign
2	39120431	C	T	C39120431T	SOS1	NM_005633.3(SOS1):c.-9G>A	noncoding	Benign
2	39120469	G	C	G39120469C	SOS1	NM_005633.3(SOS1):c.-47C>G	noncoding	Benign
2	40115390	G	T	G40115390T	SLC8A1	NM_021097.4(SLC8A1):c.2785C>A:p.Arg929=	coding	Benign
2	40115460	G	T	G40115460T	SLC8A1	NM_021097.4(SLC8A1):c.2715C>A:p.Gly905=	coding	Benign
2	40115550	C	T	C40115550T	SLC8A1	NM_021097.4(SLC8A1):c.2625G>A:p.Ala875=	coding	Benign
2	40428718	G	A	G40428718A	SLC8A1	NM_021097.4(SLC8A1):c.1563C>T:p.Leu521=	coding	Benign
2	42263316	G	A	G42263316A	EML4	NM_019063.5(EML4):c.641+10G>A	noncoding	Benign
2	42280908	C	T	C42280908T	EML4	NM_019063.5(EML4):c.726C>T:p.Ser242=	coding	Benign
2	42325463	C	G	C42325463G	EML4	NM_019063.5(EML4):c.2155-4C>G	noncoding	Benign
2	42763077	G	A	G42763077A	OXER1	NM_148962.4(OXER1):c.1103C>T:p.Ala368Val	coding	Benign
2	42763238	A	G	A42763238G	OXER1	NM_148962.4(OXER1):c.942T>C:p.Phe314=	coding	Benign
2	42769785	C	T	C42769785T	HAAO	NM_012205.3(HAAO):c.558G>A:p.Trp186Ter	coding	Pathogenic
2	43320533	G	A	G43320533A	THADA	NM_022065.4(THADA):c.4351C>T:p.Pro1451Ser	coding	Benign
2	43398139	C	A	C43398139A	THADA	NM_022065.4(THADA):c.4059G>T:p.Arg1353Ser	coding	Benign
2	43551817	T	C	T43551817C	THADA	NM_022065.4(THADA):c.2919A>G:p.Glu973=	coding	Benign
2	43556551	G	A	G43556551A	THADA	NM_001271643.2(THADA):c.2468C>T:p.Ser823Leu	coding	Benign
2	43586943	C	T	C43586943T	THADA	NM_001271643.2(THADA):c.362G>A:p.Arg121His	coding	Benign
2	43774140	T	C	T43774140C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.2T>C:p.Met1Thr	coding	Pathogenic
2	43789685	A	C	A43789685C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.284A>C:p.Asp95Ala	coding	Benign
2	43794485	C	G	C43794485G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.349C>G:p.Leu117Val	coding	Pathogenic
2	43794508	G	A	G43794508A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.372G>A:p.Trp124Ter	coding	Pathogenic
2	43794537	C	T	C43794537T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.401C>T:p.Thr134Ile	coding	Benign
2	43794627	T	C	T43794627C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.491T>C:p.Met164Thr	coding	Benign
2	43795896	G	A	G43795896A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.514G>A:p.Glu172Lys	coding	Benign
2	43795915	C	T	C43795915T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.533C>T:p.Pro178Leu	coding	Benign
2	43795928	C	T	C43795928T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.546C>T:p.Val182=	coding	Benign
2	43796760	C	T	C43796760T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.619C>T:p.Arg207Ter	coding	Pathogenic
2	43800845	C	T	C43800845T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.659C>T:p.Thr220Ile	coding	Pathogenic
2	43801700	G	A	G43801700A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.793G>A:p.Gly265Ser	coding	Benign
2	43804715	G	A	G43804715A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.876G>A:p.Val292=	coding	Benign
2	43805247	G	A	G43805247A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.993+1G>A	coding	Pathogenic
2	43805249	A	G	A43805249G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.993+3A>G	noncoding	Pathogenic
2	43809711	G	T	G43809711T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.1000G>T:p.Glu334Ter	coding	Pathogenic
2	43809753	G	C	G43809753C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.1042G>C:p.Glu348Gln	coding	Benign
2	43812494	G	A	G43812494A	ABCG5	NM_022436.3(ABCG5):c.*622C>T	noncoding	Benign
2	43812581	G	A	G43812581A	ABCG5	NM_022436.3(ABCG5):c.*535C>T	noncoding	Benign
2	43812594	C	T	C43812594T	ABCG5	NM_022436.3(ABCG5):c.*522G>A	noncoding	Benign
2	43812700	C	T	C43812700T	ABCG5	NM_022436.3(ABCG5):c.*416G>A	noncoding	Benign
2	43812717	G	A	G43812717A	ABCG5	NM_022436.3(ABCG5):c.*399C>T	noncoding	Benign
2	43812736	A	C	A43812736C	ABCG5	NM_022436.3(ABCG5):c.*380T>G	noncoding	Benign
2	43813208	T	C	T43813208C	ABCG5	NM_022436.3(ABCG5):c.1864A>G:p.Met622Val	coding	Benign/Likely_benign
2	43813262	G	C	G43813262C	ABCG5	NM_022436.3(ABCG5):c.1810C>G:p.Gln604Glu	coding	Benign
2	43813316	A	C	A43813316C	ABCG5	NM_022436.3(ABCG5):c.1763-7T>G	noncoding	Benign
2	43820014	G	C	G43820014C	ABCG5	NM_022436.3(ABCG5):c.1550C>G:p.Thr517Ser	coding	Benign
2	43820072	G	A	G43820072A	ABCG5	NM_022436.3(ABCG5):c.1492C>T:p.Arg498Ter	coding	Pathogenic
2	43822924	G	A	G43822924A	ABCG5	NM_022436.3(ABCG5):c.1336C>T:p.Arg446Ter	coding	Pathogenic
2	43823953	G	A	G43823953A	ABCG5	NM_022436.3(ABCG5):c.1284C>T:p.Gly428=	coding	Benign/Likely_benign
2	43823981	C	G	C43823981G	ABCG5	NM_022436.3(ABCG5):c.1256G>C:p.Arg419Pro	coding	Pathogenic
2	43823981	C	T	C43823981T	ABCG5	NM_022436.3(ABCG5):c.1256G>A:p.Arg419His	coding	Pathogenic
2	43824009	T	G	T43824009G	ABCG5	NM_022436.3(ABCG5):c.1228A>C:p.Asn410His	coding	Benign/Likely_benign
2	43824015	G	A	G43824015A	ABCG5	NM_022436.3(ABCG5):c.1222C>T:p.Arg408Ter	coding	Pathogenic
2	43824071	C	T	C43824071T	ABCG5	NM_022436.3(ABCG5):c.1166G>A:p.Arg389His	coding	Pathogenic
2	43824896	G	A	G43824896A	ABCG5	NM_022436.3(ABCG5):c.897C>T:p.Asp299=	coding	Benign
2	43825008	T	C	T43825008C	ABCG5	NM_022436.3(ABCG5):c.785A>G:p.Lys262Arg	coding	Benign
2	43825028	C	A	C43825028A	ABCG5	NM_022436.3(ABCG5):c.775-10G>T	noncoding	Benign
2	43826429	G	A	G43826429A	ABCG5	NM_022436.3(ABCG5):c.727C>T:p.Arg243Ter	coding	Pathogenic
2	43831868	C	T	C43831868T	ABCG5	NM_022436.3(ABCG5):c.403-1G>A	coding	Pathogenic
2	43831869	T	C	T43831869C	ABCG5	NM_022436.3(ABCG5):c.403-2A>G	noncoding	Pathogenic
2	43837870	C	A	C43837870A	ABCG5	NM_022436.3(ABCG5):c.229G>T:p.Glu77Ter	coding	Pathogenic
2	43837951	G	A	G43837951A	ABCG5;ABCG8	NM_022436.3(ABCG5):c.148C>T:p.Arg50Cys	coding	Benign/Likely_benign
2	43838541	C	A	C43838541A	ABCG5	NM_022436.3(ABCG5):c.139G>T:p.Val47Phe	coding	Benign
2	43838634	G	A	G43838634A	ABCG5	NM_022436.3(ABCG5):c.46C>T:p.Gln16Ter	coding	Pathogenic
2	43838653	G	A	G43838653A	ABCG5	NM_022436.3(ABCG5):c.27C>T:p.Pro9=	coding	Benign/Likely_benign
2	43838797	T	G	T43838797G	ABCG5	NM_022436.3(ABCG5):c.-118A>C	noncoding	Benign/Likely_benign
2	43839035	T	G	T43839035G	ABCG8	NM_022437.3(ABCG8):c.-19T>G	noncoding	Benign
2	43839039	A	C	A43839039C	ABCG8	NM_022437.3(ABCG8):c.-15A>C	noncoding	Benign/Likely_benign
2	43839104	C	A	C43839104A	ABCG8	NM_022437.3(ABCG8):c.51C>A:p.Pro17=	coding	Benign
2	43844500	C	T	C43844500T	ABCG8	NM_022437.3(ABCG8):c.64-7C>T	noncoding	Benign
2	43844505	A	G	A43844505G	ABCG8	NM_022437.3(ABCG8):c.64-2A>G	noncoding	Pathogenic
2	43844537	A	G	A43844537G	ABCG8	NM_022437.3(ABCG8):c.94A>G:p.Ser32Gly	coding	Benign
2	43844563	C	A	C43844563A	ABCG8	NM_022437.3(ABCG8):c.120C>A:p.Tyr40Ter	coding	Pathogenic
2	43844597	C	G	C43844597G	ABCG8	NM_022437.3(ABCG8):c.154C>G:p.Leu52Val	coding	Benign
2	43844604	A	G	A43844604G	ABCG8	NM_022437.3(ABCG8):c.161A>G:p.Tyr54Cys	coding	Benign
2	43844621	C	T	C43844621T	ABCG8	NM_022437.3(ABCG8):c.165+13C>T	noncoding	Benign
2	43846228	G	A	G43846228A	ABCG8	NM_022437.3(ABCG8):c.239G>A:p.Cys80Tyr	coding	Benign
2	43846309	C	G	C43846309G	ABCG8	NM_022437.3(ABCG8):c.320C>G:p.Ser107Ter	coding	Pathogenic
2	43851714	G	A	G43851714A	ABCG8	NM_022437.3(ABCG8):c.453G>A:p.Val151=	coding	Benign
2	43851752	G	A	G43851752A	ABCG8	NM_022437.3(ABCG8):c.491G>A:p.Arg164Gln	coding	Benign/Likely_benign
2	43852420	G	A	G43852420A	ABCG8	NM_022437.3(ABCG8):c.628G>A:p.Val210Met	coding	Benign
2	43852467	G	A	G43852467A	ABCG8	NM_022437.3(ABCG8):c.675G>A:p.Val225=	coding	Benign
2	43852483	C	A	C43852483A	ABCG8	NM_022437.3(ABCG8):c.691C>A:p.Pro231Thr	coding	Pathogenic
2	43852808	C	T	C43852808T	ABCG8	NM_022437.3(ABCG8):c.904C>T:p.Gln302Ter	coding	Pathogenic
2	43872094	G	A	G43872094A	ABCG8	NM_022437.3(ABCG8):c.1083G>A:p.Trp361Ter	coding	Pathogenic
2	43872294	C	A	C43872294A	ABCG8	NM_022437.3(ABCG8):c.1199C>A:p.Thr400Lys	coding	Benign
2	43873809	C	T	C43873809T	ABCG8	NM_022437.3(ABCG8):c.1234C>T:p.Arg412Ter	coding	Pathogenic
2	43873940	C	T	C43873940T	ABCG8	NM_022437.3(ABCG8):c.1365C>T:p.Ile455=	coding	Benign
2	43874399	C	T	C43874399T	ABCG8	NM_022437.3(ABCG8):c.1412-8C>T	noncoding	Benign
2	43875163	G	A	G43875163A	ABCG8	NM_022437.3(ABCG8):c.1506G>A:p.Pro502=	coding	Benign/Likely_benign
2	43875265	G	A	G43875265A	ABCG8	NM_022437.3(ABCG8):c.1608G>A:p.Trp536Ter	coding	Pathogenic
2	43875352	C	T	C43875352T	ABCG8	NM_022437.3(ABCG8):c.1695C>T:p.Ala565=	coding	Benign
2	43875373	C	T	C43875373T	ABCG8	NM_022437.3(ABCG8):c.1716C>T:p.Leu572=	coding	Benign
2	43875377	G	A	G43875377A	ABCG8	NM_022437.3(ABCG8):c.1720G>A:p.Gly574Arg	coding	Pathogenic/Likely_pathogenic
2	43875428	C	T	C43875428T	ABCG8	NM_022437.3(ABCG8):c.1756+15C>T	noncoding	Benign
2	43877586	C	T	C43877586T	ABCG8	NM_022437.3(ABCG8):c.1782C>T:p.Ser594=	coding	Benign/Likely_benign
2	43877591	T	G	T43877591G	ABCG8	NM_022437.3(ABCG8):c.1787T>G:p.Leu596Arg	coding	Pathogenic
2	43877786	T	C	T43877786C	ABCG8	NM_022437.3(ABCG8):c.1895T>C:p.Val632Ala	coding	Benign
2	43877854	A	G	A43877854G	ABCG8	NM_022437.3(ABCG8):c.1963A>G:p.Met655Val	coding	Benign
2	43886424	T	A	T43886424A	LRPPRC	NM_133259.4(LRPPRC):c.*2176A>T	noncoding	Benign
2	43886559	G	A	G43886559A	LRPPRC	NM_133259.4(LRPPRC):c.*2041C>T	noncoding	Benign
2	43887229	G	A	G43887229A	LRPPRC	NM_133259.4(LRPPRC):c.*1371C>T	noncoding	Benign
2	43887257	C	G	C43887257G	LRPPRC	NM_133259.4(LRPPRC):c.*1343G>C	noncoding	Benign
2	43887265	A	G	A43887265G	LRPPRC	NM_133259.4(LRPPRC):c.*1335T>C	noncoding	Benign
2	43887512	C	G	C43887512G	LRPPRC	NM_133259.4(LRPPRC):c.*1088G>C	noncoding	Benign
2	43887775	T	C	T43887775C	LRPPRC	NM_133259.4(LRPPRC):c.*825A>G	noncoding	Benign
2	43887866	T	C	T43887866C	LRPPRC	NM_133259.4(LRPPRC):c.*734A>G	noncoding	Benign
2	43888044	T	A	T43888044A	LRPPRC	NM_133259.4(LRPPRC):c.*556A>T	noncoding	Benign
2	43888961	C	T	C43888961T	LRPPRC	NM_133259.4(LRPPRC):c.4129-305G>A	noncoding	Benign
2	43889784	C	T	C43889784T	LRPPRC	NM_133259.4(LRPPRC):c.4078G>A:p.Ala1360Thr	coding	Benign/Likely_benign
2	43889907	A	C	A43889907C	LRPPRC	NM_133259.4(LRPPRC):c.3986-31T>G	noncoding	Benign
2	43894567	G	T	G43894567T	LRPPRC	NM_133259.4(LRPPRC):c.3963C>A:p.Tyr1321Ter	coding	Pathogenic
2	43894789	T	C	T43894789C	LRPPRC	NM_133259.4(LRPPRC):c.3901-160A>G	noncoding	Benign
2	43894804	A	G	A43894804G	LRPPRC	NM_133259.4(LRPPRC):c.3901-175T>C	noncoding	Benign
2	43896619	G	A	G43896619A	LRPPRC	NM_133259.4(LRPPRC):c.3900+15C>T	noncoding	Benign
2	43896620	G	A	G43896620A	LRPPRC	NM_133259.4(LRPPRC):c.3900+14C>T	noncoding	Benign
2	43896633	C	G	C43896633G	LRPPRC	NM_133259.4(LRPPRC):c.3900+1G>C	noncoding	Pathogenic
2	43896916	T	C	T43896916C	LRPPRC	NM_133259.4(LRPPRC):c.3826-208A>G	noncoding	Benign
2	43899204	G	A	G43899204A	LRPPRC	NM_133259.4(LRPPRC):c.3825+15C>T	noncoding	Benign
2	43899580	T	C	T43899580C	LRPPRC	NM_133259.4(LRPPRC):c.3595A>G:p.Asn1199Asp	coding	Benign
2	43899608	G	A	G43899608A	LRPPRC	NM_133259.4(LRPPRC):c.3570-3C>T	noncoding	Benign
2	43901365	G	C	G43901365C	LRPPRC	NM_133259.4(LRPPRC):c.3524C>G:p.Ser1175Ter	coding	Pathogenic
2	43901492	G	A	G43901492A	LRPPRC	NM_133259.4(LRPPRC):c.3397C>T:p.Gln1133Ter	coding	Pathogenic
2	43901773	C	T	C43901773T	LRPPRC	NM_133259.4(LRPPRC):c.3365-249G>A	noncoding	Benign
2	43912847	G	A	G43912847A	LRPPRC	NM_133259.4(LRPPRC):c.3149-289C>T	noncoding	Benign
2	43918660	C	T	C43918660T	LRPPRC	NM_133259.4(LRPPRC):c.2897-262G>A	noncoding	Benign
2	43918698	A	C	A43918698C	LRPPRC	NM_133259.4(LRPPRC):c.2897-300T>G	noncoding	Benign
2	43925051	T	C	T43925051C	LRPPRC	NM_133259.4(LRPPRC):c.2896+16A>G	noncoding	Benign
2	43925390	T	A	T43925390A	LRPPRC	NM_133259.4(LRPPRC):c.2806-233A>T	noncoding	Benign
2	43925937	C	A	C43925937A	LRPPRC	NM_133259.4(LRPPRC):c.2761G>T:p.Ala921Ser	coding	Benign
2	43926191	G	C	G43926191C	LRPPRC	NM_133259.4(LRPPRC):c.2737-230C>G	noncoding	Benign
2	43934821	T	C	T43934821C	LRPPRC	NM_133259.4(LRPPRC):c.2562A>G:p.Val854=	coding	Benign
2	43935027	A	G	A43935027G	LRPPRC	NM_133259.4(LRPPRC):c.2505-149T>C	noncoding	Benign
2	43935181	T	C	T43935181C	LRPPRC	NM_133259.4(LRPPRC):c.2505-303A>G	noncoding	Benign
2	43943442	A	T	A43943442T	LRPPRC	NM_133259.4(LRPPRC):c.2504+245T>A	noncoding	Benign
2	43943710	T	C	T43943710C	LRPPRC	NM_133259.4(LRPPRC):c.2481A>G:p.Pro827=	coding	Benign
2	43943796	T	A	T43943796A	LRPPRC	NM_133259.4(LRPPRC):c.2395A>T:p.Arg799Ter	coding	Pathogenic
2	43943866	T	C	T43943866C	LRPPRC	NM_133259.4(LRPPRC):c.2325A>G:p.Lys775=	coding	Benign
2	43945497	T	C	T43945497C	LRPPRC	NM_133259.4(LRPPRC):c.2211-80A>G	noncoding	Benign
2	43946205	T	C	T43946205C	LRPPRC	NM_133259.4(LRPPRC):c.2118A>G:p.Glu706=	coding	Benign/Likely_benign
2	43947829	T	A	T43947829A	LRPPRC	NM_133259.4(LRPPRC):c.1921-54A>T	noncoding	Benign
2	43948121	C	A	C43948121A	LRPPRC	NM_133259.4(LRPPRC):c.1920+1G>T	noncoding	Pathogenic
2	43948154	G	A	G43948154A	LRPPRC	NM_133259.4(LRPPRC):c.1888C>T:p.Leu630=	coding	Benign
2	43948227	A	C	A43948227C	LRPPRC	NM_133259.4(LRPPRC):c.1843-28T>G	noncoding	Benign
2	43948413	A	G	A43948413G	LRPPRC	NM_133259.4(LRPPRC):c.1841T>C:p.Met614Thr	coding	Benign
2	43948532	C	T	C43948532T	LRPPRC	NM_133259.4(LRPPRC):c.1736-14G>A	noncoding	Benign
2	43950421	C	T	C43950421T	LRPPRC	NM_133259.4(LRPPRC):c.1677+152G>A	noncoding	Benign
2	43950562	G	C	G43950562C	LRPPRC	NM_133259.4(LRPPRC):c.1677+11C>G	noncoding	Benign
2	43950895	T	C	T43950895C	LRPPRC	NM_133259.4(LRPPRC):c.1650-295A>G	noncoding	Benign
2	43960594	G	C	G43960594C	LRPPRC	NM_133259.4(LRPPRC):c.1529C>G:p.Ala510Gly	coding	Benign
2	43960632	T	A	T43960632A	LRPPRC	NM_133259.4(LRPPRC):c.1491A>T:p.Glu497Asp	coding	Benign
2	43963572	C	T	C43963572T	LRPPRC	NM_133259.4(LRPPRC):c.1488+16G>A	noncoding	Benign
2	43963644	T	C	T43963644C	LRPPRC	NM_133259.4(LRPPRC):c.1432A>G:p.Thr478Ala	coding	Benign
2	43974120	T	C	T43974120C	LRPPRC	NM_133259.4(LRPPRC):c.1155+30A>G	noncoding	Benign
2	43974237	T	C	T43974237C	LRPPRC	NM_133259.4(LRPPRC):c.1068A>G:p.Gln356=	coding	Benign
2	43974244	G	A	G43974244A	LRPPRC	NM_133259.4(LRPPRC):c.1061C>T:p.Ala354Val	coding	Pathogenic
2	43975089	A	G	A43975089G	LRPPRC	NM_133259.4(LRPPRC):c.864+2T>C	noncoding	Pathogenic
2	43975287	A	G	A43975287G	LRPPRC	NM_133259.4(LRPPRC):c.738-70T>C	noncoding	Benign
2	43976440	G	A	G43976440A	LRPPRC	NM_133259.4(LRPPRC):c.651-211C>T	noncoding	Benign
2	43977408	G	C	G43977408C	LRPPRC	NM_133259.4(LRPPRC):c.470-132C>G	noncoding	Benign
2	43977578	T	C	T43977578C	LRPPRC	NM_133259.4(LRPPRC):c.470-302A>G	noncoding	Benign
2	43979660	A	C	A43979660C	LRPPRC	NM_133259.4(LRPPRC):c.469+166T>G	noncoding	Benign
2	43979967	T	C	T43979967C	LRPPRC	NM_133259.4(LRPPRC):c.347-19A>G	noncoding	Benign
2	43982301	G	A	G43982301A	LRPPRC	NM_133259.4(LRPPRC):c.283C>T:p.Arg95Ter	coding	Pathogenic
2	43982338	C	T	C43982338T	LRPPRC	NM_133259.4(LRPPRC):c.246G>A:p.Gln82=	coding	Benign
2	43982667	C	A	C43982667A	LRPPRC	NM_133259.4(LRPPRC):c.150-233G>T	noncoding	Benign
2	43995523	A	G	A43995523G	LRPPRC	NM_133259.4(LRPPRC):c.149+276T>C	noncoding	Benign
2	43995779	G	C	G43995779C	LRPPRC	NM_133259.4(LRPPRC):c.149+20C>G	noncoding	Benign
2	43995780	A	G	A43995780G	LRPPRC	NM_133259.4(LRPPRC):c.149+19T>C	noncoding	Benign
2	43995907	G	C	G43995907C	LRPPRC	NM_133259.4(LRPPRC):c.41C>G:p.Ala14Gly	coding	Benign
2	43995958	T	C	T43995958C	LRPPRC	NM_133259.4(LRPPRC):c.-11A>G	noncoding	Benign
2	43995992	C	T	C43995992T	LRPPRC	NM_133259.3(LRPPRC):c.-45G>A	noncoding	Benign
2	43996219	C	G	C43996219G	LRPPRC	NC_000002.12:g.43996219C>G	noncoding	Benign
2	44218547	A	G	A44218547G	PPM1B	NM_002706.6(PPM1B):c.1134+10A>G	noncoding	Benign
2	44275649	A	C	A44275649C	SLC3A1	NM_000341.4(SLC3A1):c.114A>C:p.Gly38=	coding	Benign
2	44280827	G	A	G44280827A	SLC3A1	NM_000341.4(SLC3A1):c.542G>A:p.Arg181Gln	coding	Pathogenic
2	44281423	C	T	C44281423T	SLC3A1	NM_000341.4(SLC3A1):c.647C>T:p.Thr216Met	coding	Pathogenic
2	44281448	A	G	A44281448G	SLC3A1	NM_000341.4(SLC3A1):c.672A>G:p.Gln224=	coding	Benign
2	44286074	C	T	C44286074T	SLC3A1	NM_000341.4(SLC3A1):c.808C>T:p.Arg270Ter	coding	Pathogenic
2	44299965	C	G	C44299965G	SLC3A1	NM_000341.4(SLC3A1):c.892-6C>G	noncoding	Benign/Likely_benign
2	44301002	G	A	G44301002A	SLC3A1	NM_000341.4(SLC3A1):c.1012-1G>A	noncoding	Pathogenic
2	44301026	G	A	G44301026A	SLC3A1	NM_000341.4(SLC3A1):c.1035G>A:p.Glu345=	coding	Benign/Likely_benign
2	44301075	C	G	C44301075G	SLC3A1	NM_000341.4(SLC3A1):c.1084C>G:p.Arg362Gly	coding	Pathogenic
2	44301104	C	A	C44301104A	SLC3A1	NM_000341.4(SLC3A1):c.1113C>A:p.Tyr371Ter	coding	Pathogenic
2	44304340	T	A	T44304340A	SLC3A1	NM_000341.4(SLC3A1):c.1332+2T>A	noncoding	Pathogenic
2	44304345	C	T	C44304345T	SLC3A1	NM_000341.4(SLC3A1):c.1332+7C>T	noncoding	Benign
2	44312607	C	T	C44312607T	SLC3A1	NM_000341.4(SLC3A1):c.1354C>T:p.Arg452Trp	coding	Pathogenic
2	44312653	T	C	T44312653C	SLC3A1	NM_000341.4(SLC3A1):c.1400T>C:p.Met467Thr	coding	Pathogenic
2	44312667	C	T	C44312667T	SLC3A1	NM_000341.4(SLC3A1):c.1414C>T:p.Leu472Phe	coding	Pathogenic
2	44312754	G	T	G44312754T	SLC3A1	NM_000341.4(SLC3A1):c.1500+1G>T	coding	Pathogenic
2	44313906	C	T	C44313906T	SLC3A1	NM_000341.4(SLC3A1):c.1572C>T:p.Asn524=	coding	Benign
2	44313931	T	A	T44313931A	SLC3A1	NM_000341.4(SLC3A1):c.1597T>A:p.Tyr533Asn	coding	Pathogenic
2	44320221	C	T	C44320221T	SLC3A1	NM_000341.4(SLC3A1):c.1640C>T:p.Ser547Leu	coding	Pathogenic
2	44320435	G	A	G44320435A	SLC3A1	NM_000341.4(SLC3A1):c.1854G>A:p.Met618Ile	coding	Benign
2	44320536	C	G	C44320536G	SLC3A1	NM_000341.4(SLC3A1):c.1955C>G:p.Thr652Arg	coding	Pathogenic
2	44320614	T	C	T44320614C	SLC3A1	NM_000341.4(SLC3A1):c.2033T>C:p.Leu678Pro	coding	Pathogenic
2	44320770	T	C	T44320770C	SLC3A1	NM_000341.4(SLC3A1):c.*131T>C	noncoding	Benign
2	44321418	C	T	C44321418T	PREPL	NM_000341.4(SLC3A1):c.*779C>T	coding	Benign/Likely_benign
2	44321419	G	A	G44321419A	PREPL	NM_001171613.2(PREPL):c.1854C>T:p.Tyr618=	coding	Benign
2	44322828	T	C	T44322828C	PREPL	NM_001171603.1(PREPL):c.1923A>G:p.Ala641=	coding	Benign
2	44323389	T	C	T44323389C	PREPL	NM_001171603.1(PREPL):c.1769A>G:p.Asn590Ser	coding	Benign
2	44326704	G	A	G44326704A	PREPL	NM_001171603.1(PREPL):c.1746+8C>T	noncoding	Benign
2	44326854	A	C	A44326854C	PREPL	NM_001171603.1(PREPL):c.1604T>G:p.Leu535Ter	coding	Pathogenic
2	44326929	C	G	C44326929G	PREPL	NM_001171603.1(PREPL):c.1530-1G>C	coding	Pathogenic
2	44338350	C	T	C44338350T	PREPL	NM_001171603.1(PREPL):c.1155+1G>A	noncoding	Pathogenic
2	44339233	G	A	G44339233A	PREPL	NM_001171603.1(PREPL):c.883C>T:p.Arg295Ter	coding	Pathogenic
2	44342475	G	A	G44342475A	PREPL	NM_001171603.1(PREPL):c.694C>T:p.Arg232Ter	coding	Pathogenic
2	44343791	G	T	G44343791T	PREPL	NM_001171613.2(PREPL):c.303C>A:p.Ser101Arg	coding	Benign
2	44343845	G	C	G44343845C	PREPL	NM_001171613.2(PREPL):c.249C>G:p.Ala83=	coding	Benign
2	44343869	A	T	A44343869T	PREPL	NM_001171603.1(PREPL):c.492T>A:p.Ala164=	coding	Benign
2	44343945	T	C	T44343945C	PREPL	NM_001171603.1(PREPL):c.416A>G:p.Asn139Ser	coding	Benign
2	44346303	G	A	G44346303A	PREPL	NM_001171603.1(PREPL):c.307C>T:p.Gln103Ter	coding	Pathogenic
2	44359567	T	A	T44359567A	PREPL	NM_001171603.1(PREPL):c.149A>T:p.Lys50Met	coding	Benign
2	44359634	A	C	A44359634C	PREPL	NM_001171613.2(PREPL):c.-49+1746T>G	coding	Benign
2	44359645	T	C	T44359645C	PREPL	NM_001171613.2(PREPL):c.-49+1735A>G	coding	Benign
2	44766513	C	T	C44766513T	CAMKMT	NM_024766.5(CAMKMT):c.846C>T:p.Ile282=	coding	Benign
2	44942162	G	T	G44942162T	SIX3	NM_005413.4(SIX3):c.58G>T:p.Ala20Ser	coding	Benign
2	44942194	G	T	G44942194T	SIX3	NM_005413.4(SIX3):c.90G>T:p.Ala30=	coding	Benign
2	44942213	G	T	G44942213T	SIX3	NM_005413.4(SIX3):c.109G>T:p.Gly37Cys	coding	Benign/Likely_benign
2	44942323	C	T	C44942323T	SIX3	NM_005413.4(SIX3):c.219C>T:p.Pro73=	coding	Benign/Likely_benign
2	44942392	T	A	T44942392A	SIX3	NM_005413.4(SIX3):c.288T>A:p.Cys96Ter	coding	Pathogenic
2	44942443	G	T	G44942443T	SIX3	NM_005413.4(SIX3):c.339G>T:p.Trp113Cys	coding	Pathogenic
2	44942452	C	T	C44942452T	SIX3	NM_005413.4(SIX3):c.348C>T:p.Pro116=	coding	Benign
2	44942489	G	T	G44942489T	SIX3	NM_005413.4(SIX3):c.385G>T:p.Glu129Ter	coding	Pathogenic
2	44942603	G	T	G44942603T	SIX3	NM_005413.4(SIX3):c.499G>T:p.Ala167Ser	coding	Pathogenic
2	44942611	G	A	G44942611A	SIX3	NM_005413.4(SIX3):c.507G>A:p.Trp169Ter	coding	Pathogenic
2	44942629	G	A	G44942629A	SIX3	NM_005413.4(SIX3):c.525G>A:p.Gln175=	coding	Benign/Likely_benign
2	44942680	C	T	C44942680T	SIX3	NM_005413.4(SIX3):c.576C>T:p.Arg192=	coding	Benign
2	44942780	C	G	C44942780G	SIX3	NM_005413.4(SIX3):c.676C>G:p.Leu226Val	coding	Pathogenic
2	44942824	G	T	G44942824T	SIX3	NM_005413.4(SIX3):c.720G>T:p.Ala240=	coding	Benign/Likely_benign
2	44942853	T	C	T44942853C	SIX3	NM_005413.4(SIX3):c.749T>C:p.Val250Ala	coding	Pathogenic
2	44943014	G	A	G44943014A	SIX3	NM_005413.4(SIX3):c.806+104G>A	noncoding	Benign
2	44944407	C	T	C44944407T	SIX3	NM_005413.4(SIX3):c.807-161C>T	noncoding	Benign
2	44944591	C	A	C44944591A	SIX3	NM_005413.4(SIX3):c.830C>A:p.Pro277Gln	coding	Benign
2	44944670	G	C	G44944670C	SIX3	NM_005413.4(SIX3):c.909G>C:p.Pro303=	coding	Benign
2	44944703	A	G	A44944703G	SIX3	NM_005413.4(SIX3):c.942A>G:p.Ala314=	coding	Benign
2	46007502	A	G	A46007502G	PRKCE	NM_005400.3(PRKCE):c.1104A>G:p.Ser368=	coding	Benign
2	46010391	G	A	G46010391A	PRKCE	NM_005400.3(PRKCE):c.1311G>A:p.Lys437=	coding	Benign
2	46010445	A	G	A46010445G	PRKCE	NM_005400.3(PRKCE):c.1365A>G:p.Thr455=	coding	Benign
2	46151104	G	A	G46151104A	PRKCE	NM_005400.3(PRKCE):c.1795G>A:p.Glu599Lys	coding	Pathogenic
2	46159645	G	A	G46159645A	PRKCE	NM_005400.3(PRKCE):c.1960G>A:p.Ala654Thr	coding	Benign
2	46297441	C	T	C46297441T	EPAS1	NM_001430.5(EPAS1):c.-471C>T	noncoding	Benign
2	46297772	G	A	G46297772A	EPAS1	NM_001430.5(EPAS1):c.-140G>A	noncoding	Benign
2	46297944	G	C	G46297944C	EPAS1	NM_001430.5(EPAS1):c.26+7G>C	noncoding	Benign
2	46346887	G	A	G46346887A	EPAS1	NM_001430.5(EPAS1):c.41G>A:p.Arg14Lys	coding	Benign
2	46346992	C	A	C46346992A	EPAS1	NM_001430.5(EPAS1):c.146C>A:p.Ser49Tyr	coding	Benign
2	46356139	C	A	C46356139A	EPAS1	NM_001430.5(EPAS1):c.218-12C>A	noncoding	Benign
2	46356139	C	T	C46356139T	EPAS1	NM_001430.5(EPAS1):c.218-12C>T	noncoding	Benign
2	46356140	C	G	C46356140G	EPAS1	NM_001430.5(EPAS1):c.218-11C>G	noncoding	Benign
2	46356140	C	T	C46356140T	EPAS1	NM_001430.5(EPAS1):c.218-11C>T	noncoding	Benign
2	46356141	C	A	C46356141A	EPAS1	NM_001430.5(EPAS1):c.218-10C>A	noncoding	Benign/Likely_benign
2	46356142	C	T	C46356142T	EPAS1	NM_001430.5(EPAS1):c.218-9C>T	noncoding	Benign
2	46356278	C	T	C46356278T	EPAS1	NM_001430.5(EPAS1):c.345C>T:p.Ile115=	coding	Benign
2	46360874	G	A	G46360874A	EPAS1	NM_001430.5(EPAS1):c.574-11G>A	noncoding	Benign
2	46360880	C	G	C46360880G	EPAS1	NM_001430.5(EPAS1):c.574-5C>G	noncoding	Benign
2	46361079	C	T	C46361079T	EPAS1	NM_001430.5(EPAS1):c.768C>T:p.Tyr256=	coding	Benign
2	46361098	G	T	G46361098T	EPAS1	NM_001430.5(EPAS1):c.779+8G>T	noncoding	Benign
2	46369812	T	A	T46369812A	EPAS1	NM_001430.5(EPAS1):c.780-15T>A	noncoding	Benign
2	46369905	C	T	C46369905T	EPAS1	NM_001430.5(EPAS1):c.858C>T:p.Ser286=	coding	Benign
2	46375796	C	T	C46375796T	EPAS1	NM_001430.5(EPAS1):c.993C>T:p.Asn331=	coding	Benign
2	46376524	T	C	T46376524C	EPAS1	NM_001430.5(EPAS1):c.1035-15T>C	noncoding	Benign
2	46376532	C	G	C46376532G	EPAS1	NM_001430.5(EPAS1):c.1035-7C>G	noncoding	Benign
2	46376533	C	G	C46376533G	EPAS1	NM_001430.5(EPAS1):c.1035-6C>G	noncoding	Benign
2	46376581	T	C	T46376581C	EPAS1	NM_001430.5(EPAS1):c.1077T>C:p.Thr359=	coding	Benign
2	46376608	G	A	G46376608A	EPAS1	NM_001430.5(EPAS1):c.1104G>A:p.Met368Ile	coding	Benign/Likely_benign
2	46376617	C	T	C46376617T	EPAS1	NM_001430.5(EPAS1):c.1113C>T:p.Asn371=	coding	Benign
2	46376695	C	T	C46376695T	EPAS1	NM_001430.5(EPAS1):c.1191C>T:p.Pro397=	coding	Benign
2	46376722	C	G	C46376722G	EPAS1	NM_001430.5(EPAS1):c.1218C>G:p.Thr406=	coding	Benign
2	46376732	G	A	G46376732A	EPAS1	NM_001430.5(EPAS1):c.1228G>A:p.Ala410Thr	coding	Benign
2	46380275	A	G	A46380275G	EPAS1	NM_001430.5(EPAS1):c.1603A>G:p.Met535Val	coding	Pathogenic
2	46380281	G	A	G46380281A	EPAS1	NM_001430.5(EPAS1):c.1609G>A:p.Gly537Arg	coding	Pathogenic
2	46380281	G	T	G46380281T	EPAS1	NM_001430.5(EPAS1):c.1609G>T:p.Gly537Trp	coding	Pathogenic
2	46380330	C	T	C46380330T	EPAS1	NM_001430.5(EPAS1):c.1658C>T:p.Ala553Val	coding	Benign
2	46380409	G	A	G46380409A	EPAS1	NM_001430.5(EPAS1):c.1737G>A:p.Pro579=	coding	Benign
2	46380496	C	G	C46380496G	EPAS1	NM_001430.5(EPAS1):c.1824C>G:p.Phe608Leu	coding	Benign
2	46380505	C	T	C46380505T	EPAS1	NM_001430.5(EPAS1):c.1833C>T:p.Ala611=	coding	Benign
2	46380580	T	C	T46380580C	EPAS1	NM_001430.5(EPAS1):c.1908T>C:p.Asn636=	coding	Benign
2	46380682	T	C	T46380682C	EPAS1	NM_001430.5(EPAS1):c.2010T>C:p.Pro670=	coding	Benign
2	46381663	A	G	A46381663G	EPAS1	NM_001430.5(EPAS1):c.2113A>G:p.Lys705Glu	coding	Benign
2	46381716	G	A	G46381716A	EPAS1	NM_001430.5(EPAS1):c.2166G>A:p.Leu722=	coding	Benign
2	46381721	G	A	G46381721A	EPAS1	NM_001430.5(EPAS1):c.2171G>A:p.Gly724Glu	coding	Benign
2	46382057	C	T	C46382057T	EPAS1	NM_001430.5(EPAS1):c.2255C>T:p.Pro752Leu	coding	Benign
2	46382078	A	G	A46382078G	EPAS1	NM_001430.5(EPAS1):c.2276A>G:p.Asn759Ser	coding	Benign
2	46382433	A	C	A46382433C	EPAS1	NM_001430.5(EPAS1):c.2296A>C:p.Thr766Pro	coding	Benign
2	46382490	C	A	C46382490A	EPAS1	NM_001430.5(EPAS1):c.2353C>A:p.Pro785Thr	coding	Benign
2	46382594	G	A	G46382594A	EPAS1	NM_001430.5(EPAS1):c.2457G>A:p.Val819=	coding	Benign
2	46384520	C	T	C46384520T	EPAS1	NM_001430.5(EPAS1):c.2473C>T:p.Arg825Trp	coding	Benign
2	46384558	C	T	C46384558T	EPAS1	NM_001430.5(EPAS1):c.2511C>T:p.Pro837=	coding	Benign
2	46384714	C	T	C46384714T	EPAS1	NM_001430.5(EPAS1):c.*54C>T	noncoding	Benign
2	46384771	A	G	A46384771G	EPAS1	NM_001430.5(EPAS1):c.*111A>G	noncoding	Benign
2	46384868	T	C	T46384868C	EPAS1	NM_001430.5(EPAS1):c.*208T>C	noncoding	Benign
2	46384922	A	G	A46384922G	EPAS1	NM_001430.5(EPAS1):c.*262A>G	noncoding	Benign
2	46385009	T	C	T46385009C	EPAS1	NM_001430.5(EPAS1):c.*349T>C	noncoding	Benign
2	46385014	G	C	G46385014C	EPAS1	NM_001430.5(EPAS1):c.*354G>C	noncoding	Benign
2	46385172	A	G	A46385172G	EPAS1	NM_001430.5(EPAS1):c.*512A>G	noncoding	Benign
2	46385235	A	C	A46385235C	EPAS1	NM_001430.5(EPAS1):c.*575A>C	noncoding	Benign
2	46385262	G	C	G46385262C	EPAS1	NM_001430.5(EPAS1):c.*602G>C	noncoding	Benign
2	46385468	C	A	C46385468A	EPAS1	NM_001430.5(EPAS1):c.*808C>A	noncoding	Benign
2	46385502	A	C	A46385502C	EPAS1	NM_001430.5(EPAS1):c.*842A>C	noncoding	Benign
2	46385513	G	A	G46385513A	EPAS1	NM_001430.5(EPAS1):c.*853G>A	noncoding	Benign
2	46385867	A	C	A46385867C	EPAS1	NM_001430.5(EPAS1):c.*1207A>C	noncoding	Benign
2	46385899	A	G	A46385899G	EPAS1	NM_001430.5(EPAS1):c.*1239A>G	noncoding	Benign
2	46385920	T	C	T46385920C	EPAS1	NM_001430.5(EPAS1):c.*1260T>C	noncoding	Benign
2	46385932	C	T	C46385932T	EPAS1	NM_001430.5(EPAS1):c.*1272C>T	noncoding	Benign
2	46385935	C	A	C46385935A	EPAS1	NM_001430.5(EPAS1):c.*1275C>A	noncoding	Benign
2	46385936	G	A	G46385936A	EPAS1	NM_001430.5(EPAS1):c.*1276G>A	noncoding	Benign
2	46386226	T	C	T46386226C	EPAS1	NM_001430.5(EPAS1):c.*1566T>C	noncoding	Benign
2	46386274	C	T	C46386274T	EPAS1	NM_001430.5(EPAS1):c.*1614C>T	noncoding	Benign
2	46386384	G	A	G46386384A	EPAS1	NM_001430.5(EPAS1):c.*1724G>A	noncoding	Benign
2	46386538	T	C	T46386538C	EPAS1	NM_001430.5(EPAS1):c.*1878T>C	noncoding	Benign
2	46614980	A	G	A46614980G	PIGF	NM_002643.4(PIGF):c.185T>C:p.Val62Ala	coding	Benign
2	46758587	C	T	C46758587T	SOCS5	NM_144949.3(SOCS5):c.57C>T:p.Phe19=	coding	Benign
2	46759670	C	A	C46759670A	SOCS5	NM_144949.3(SOCS5):c.1140C>A:p.Pro380=	coding	Benign
2	46760006	C	T	C46760006T	SOCS5	NM_144949.3(SOCS5):c.1476C>T:p.Ile492=	coding	Benign
2	46902145	A	G	A46902145G	MCFD2	NM_001171506.2(MCFD2):c.*3318T>C	noncoding	Benign
2	46902363	G	C	G46902363C	MCFD2	NM_001171506.2(MCFD2):c.*3100C>G	noncoding	Benign
2	46902788	G	C	G46902788C	MCFD2	NM_001171506.2(MCFD2):c.*2675C>G	noncoding	Benign
2	46902805	G	A	G46902805A	MCFD2	NM_001171506.2(MCFD2):c.*2658C>T	noncoding	Benign
2	46905330	T	A	T46905330A	MCFD2	NM_001171506.2(MCFD2):c.*133A>T	noncoding	Benign
2	46905390	T	C	T46905390C	MCFD2	NM_001171506.2(MCFD2):c.*73A>G	noncoding	Benign
2	46905497	A	G	A46905497G	MCFD2	NM_001171506.2(MCFD2):c.407T>C:p.Ile136Thr	coding	Pathogenic
2	46905517	G	C	G46905517C	MCFD2	NM_001171506.2(MCFD2):c.387C>G:p.Asp129Glu	coding	Pathogenic
2	46907809	C	T	C46907809T	MCFD2	NM_001171506.2(MCFD2):c.309+1G>A	noncoding	Pathogenic
2	46907878	C	A	C46907878A	MCFD2	NM_001171506.2(MCFD2):c.241G>T:p.Asp81Tyr	coding	Pathogenic
2	46941635	C	G	C46941635G	TTC7A	NM_020458.4(TTC7A):c.94C>G:p.Leu32Val	coding	Benign
2	46941699	G	C	G46941699C	TTC7A	NM_020458.4(TTC7A):c.158G>C:p.Ser53Thr	coding	Benign
2	46941717	C	G	C46941717G	TTC7A	NM_020458.4(TTC7A):c.176C>G:p.Pro59Arg	coding	Benign/Likely_benign
2	46950458	A	T	A46950458T	TTC7A	NM_020458.4(TTC7A):c.280A>T:p.Lys94Ter	coding	Pathogenic
2	46950464	G	T	G46950464T	TTC7A	NM_020458.4(TTC7A):c.286G>T:p.Glu96Ter	coding	Pathogenic
2	46950478	C	T	C46950478T	TTC7A	NM_020458.4(TTC7A):c.300C>T:p.Ser100=	coding	Benign
2	46956927	G	A	G46956927A	TTC7A	NM_020458.4(TTC7A):c.437G>A:p.Arg146Gln	coding	Benign
2	46975018	G	T	G46975018T	TTC7A	NM_020458.4(TTC7A):c.563G>T:p.Arg188Leu	coding	Benign/Likely_benign
2	46975025	A	G	A46975025G	TTC7A	NM_020458.4(TTC7A):c.570A>G:p.Thr190=	coding	Benign
2	46975095	T	C	T46975095C	TTC7A	NM_020458.4(TTC7A):c.640T>C:p.Leu214=	coding	Benign
2	46978782	C	T	C46978782T	TTC7A	NM_020458.4(TTC7A):c.649-10C>T	noncoding	Benign/Likely_benign
2	46978809	G	A	G46978809A	TTC7A	NM_020458.4(TTC7A):c.666G>A:p.Thr222=	coding	Benign
2	46993478	C	T	C46993478T	TTC7A	NM_020458.4(TTC7A):c.793C>T:p.Arg265Trp	coding	Pathogenic
2	46993514	C	T	C46993514T	TTC7A	NM_020458.4(TTC7A):c.829C>T:p.Gln277Ter	coding	Pathogenic
2	46994356	G	T	G46994356T	TTC7A	NM_020458.4(TTC7A):c.844-1G>T	noncoding	Pathogenic
2	46994383	C	G	C46994383G	TTC7A	NM_020458.4(TTC7A):c.870C>G:p.Val290=	coding	Benign
2	46994386	G	C	G46994386C	TTC7A	NM_020458.4(TTC7A):c.873G>C:p.Leu291=	coding	Benign
2	46995142	C	G	C46995142G	TTC7A	NM_020458.4(TTC7A):c.1008C>G:p.Tyr336Ter	coding	Pathogenic
2	46995160	C	T	C46995160T	TTC7A	NM_020458.4(TTC7A):c.1026C>T:p.Ile342=	coding	Benign
2	47005909	G	A	G47005909A	TTC7A	NM_020458.4(TTC7A):c.1066-13G>A	noncoding	Benign
2	47005928	C	T	C47005928T	TTC7A	NM_020458.4(TTC7A):c.1072C>T:p.Arg358Ter	coding	Pathogenic
2	47005951	G	T	G47005951T	TTC7A	NM_020458.4(TTC7A):c.1095G>T:p.Val365=	coding	Benign
2	47005985	C	G	C47005985G	TTC7A	NM_020458.4(TTC7A):c.1129C>G:p.Gln377Glu	coding	Benign/Likely_benign
2	47006639	A	G	A47006639G	TTC7A	NM_020458.4(TTC7A):c.1204-2A>G	noncoding	Pathogenic
2	47006687	G	A	G47006687A	TTC7A	NM_020458.4(TTC7A):c.1250G>A:p.Trp417Ter	coding	Pathogenic/Likely_pathogenic
2	47011330	G	T	G47011330T	TTC7A	NM_020458.4(TTC7A):c.1288-1G>T	noncoding	Pathogenic
2	47011391	G	A	G47011391A	TTC7A	NM_020458.4(TTC7A):c.1348G>A:p.Val450Met	coding	Benign/Likely_benign
2	47022084	T	A	T47022084A	TTC7A	NM_020458.4(TTC7A):c.1510+105T>A	noncoding	Pathogenic
2	47024294	C	T	C47024294T	TTC7A	NM_020458.4(TTC7A):c.1576C>T:p.Gln526Ter	coding	Pathogenic
2	47024334	C	T	C47024334T	TTC7A	NM_020458.4(TTC7A):c.1616C>T:p.Ser539Leu	coding	Pathogenic
2	47024335	G	A	G47024335A	TTC7A	NM_020458.4(TTC7A):c.1617G>A:p.Ser539=	coding	Benign
2	47024371	G	C	G47024371C	TTC7A	NM_020458.4(TTC7A):c.1641+12G>C	noncoding	Benign
2	47029387	G	C	G47029387C	TTC7A	NM_020458.4(TTC7A):c.1802+3G>C	noncoding	Pathogenic
2	47046372	C	T	C47046372T	TTC7A	NM_020458.4(TTC7A):c.1860C>T:p.Leu620=	coding	Benign
2	47046381	C	A	C47046381A	TTC7A	NM_020458.4(TTC7A):c.1869C>A:p.Cys623Ter	coding	Pathogenic
2	47051789	G	C	G47051789C	TTC7A	NM_020458.4(TTC7A):c.2061G>C:p.Glu687Asp	coding	Benign
2	47051813	C	G	C47051813G	TTC7A	NM_020458.4(TTC7A):c.2085C>G:p.Pro695=	coding	Benign
2	47060786	C	A	C47060786A	TTC7A	NM_020458.4(TTC7A):c.2170C>A:p.Gln724Lys	coding	Benign/Likely_benign
2	47060818	C	T	C47060818T	TTC7A	NM_020458.4(TTC7A):c.2202C>T:p.Ile734=	coding	Benign
2	47060827	G	A	G47060827A	TTC7A	NM_020458.4(TTC7A):c.2211G>A:p.Ala737=	coding	Benign
2	47073743	G	A	G47073743A	TTC7A	NM_020458.4(TTC7A):c.2397G>A:p.Gln799=	coding	Benign
2	47073791	G	A	G47073791A	TTC7A	NM_020458.4(TTC7A):c.2445G>A:p.Ala815=	coding	Benign
2	47073800	C	T	C47073800T	TTC7A	NM_020458.4(TTC7A):c.2454C>T:p.Gly818=	coding	Benign
2	47073806	C	T	C47073806T	TTC7A	NM_020458.4(TTC7A):c.2460C>T:p.Gly820=	coding	Benign/Likely_benign
2	47073816	C	T	C47073816T	TTC7A	NM_020458.4(TTC7A):c.2470C>T:p.Gln824Ter	coding	Pathogenic
2	47073840	G	A	G47073840A	TTC7A	NM_020458.4(TTC7A):c.2494G>A:p.Ala832Thr	coding	Pathogenic
2	47073861	G	A	G47073861A	TTC7A	NM_020458.4(TTC7A):c.2515G>A:p.Ala839Thr	coding	Pathogenic
2	47161626	C	G	C47161626G	CALM2	NM_001743.6(CALM2):c.421+97G>C	noncoding	Benign
2	47161627	A	G	A47161627G	CALM2	NM_001743.6(CALM2):c.421+96T>C	noncoding	Benign
2	47161705	T	C	T47161705C	CALM2	NM_001743.6(CALM2):c.421+18A>G	noncoding	Benign
2	47161730	G	C	G47161730C	CALM2	NM_001743.6(CALM2):c.414C>G:p.Asn138Lys	coding	Pathogenic
2	47161737	T	G	T47161737G	CALM2	NM_001743.6(CALM2):c.407A>C:p.Gln136Pro	coding	Pathogenic/Likely_pathogenic
2	47161744	C	G	C47161744G	CALM2	NM_001743.6(CALM2):c.400G>C:p.Asp134His	coding	Pathogenic/Likely_pathogenic
2	47161748	A	C	A47161748C	CALM2	NM_001743.6(CALM2):c.396T>G:p.Asp132Glu	coding	Pathogenic
2	47161749	T	C	T47161749C	CALM2	NM_001743.6(CALM2):c.395A>G:p.Asp132Gly	coding	Pathogenic
2	47161851	T	A	T47161851A	CALM2	NM_001743.6(CALM2):c.293A>T:p.Asn98Ile	coding	Pathogenic/Likely_pathogenic
2	47161851	T	C	T47161851C	CALM2	NM_001743.6(CALM2):c.293A>G:p.Asn98Ser	coding	Pathogenic/Likely_pathogenic
2	47161857	T	A	T47161857A	CALM2	NM_001743.6(CALM2):c.287A>T:p.Asp96Val	coding	Pathogenic
2	47162328	G	A	G47162328A	CALM2	NM_001743.6(CALM2):c.243C>T:p.Asp81=	coding	Benign/Likely_benign
2	47162331	T	A	T47162331A	CALM2	NM_001743.6(CALM2):c.240A>T:p.Thr80=	coding	Benign
2	47162887	C	T	C47162887T	CALM2	NM_001743.6(CALM2):c.35-225G>A	noncoding	Benign
2	47162919	T	C	T47162919C	CALM2	NM_001743.6(CALM2):c.35-257A>G	noncoding	Benign
2	47369510	C	T	C47369510T	EPCAM	NM_002354.2(EPCAM):c.5C>T:p.Ala2Val	coding	Benign/Likely_benign
2	47369555	C	A	C47369555A	EPCAM	NM_002354.2(EPCAM):c.50C>A:p.Thr17Lys	coding	Benign
2	47369568	C	G	C47369568G	EPCAM	NM_002354.2(EPCAM):c.63C>G:p.Ala21=	coding	Benign
2	47369587	G	T	G47369587T	EPCAM	NM_002354.2(EPCAM):c.76+6G>T	noncoding	Benign
2	47369602	G	C	G47369602C	EPCAM	NM_002354.3(EPCAM):c.76+21G>C	noncoding	Benign
2	47373452	T	A	T47373452A	EPCAM	NM_002354.2(EPCAM):c.77-11T>A	noncoding	Benign
2	47373492	G	A	G47373492A	EPCAM	NM_002354.2(EPCAM):c.106G>A:p.Val36Ile	coding	Benign
2	47373519	C	T	C47373519T	EPCAM	NM_002354.2(EPCAM):c.133C>T:p.Gln45Ter	coding	Pathogenic
2	47373521	A	G	A47373521G	EPCAM	NM_002354.2(EPCAM):c.135A>G:p.Gln45=	coding	Benign
2	47373545	A	C	A47373545C	EPCAM	NM_002354.2(EPCAM):c.159A>C:p.Ala53=	coding	Benign/Likely_benign
2	47373820	G	A	G47373820A	EPCAM	NM_002354.2(EPCAM):c.197G>A:p.Cys66Tyr	coding	Pathogenic
2	47373888	C	T	C47373888T	EPCAM	NM_002354.3(EPCAM):c.265C>T:p.Gln89Ter	coding	Pathogenic
2	47373890	G	C	G47373890C	EPCAM	NM_002354.3(EPCAM):c.267G>C:p.Gln89His	coding	Benign/Likely_benign
2	47373967	T	C	T47373967C	EPCAM	NM_002354.3(EPCAM):c.344T>C:p.Met115Thr	coding	Benign
2	47373968	G	A	G47373968A	EPCAM	NM_002354.2(EPCAM):c.345G>A:p.Met115Ile	coding	Benign
2	47374035	C	T	C47374035T	EPCAM	NM_002354.2(EPCAM):c.412C>T:p.Arg138Ter	coding	Pathogenic
2	47375214	A	G	A47375214G	EPCAM	NM_002354.2(EPCAM):c.426-20A>G	noncoding	Benign
2	47375237	G	A	G47375237A	EPCAM	NM_002354.2(EPCAM):c.429G>A:p.Trp143Ter	coding	Pathogenic
2	47375266	G	C	G47375266C	EPCAM	NM_002354.2(EPCAM):c.458G>C:p.Arg153Thr	coding	Benign/Likely_benign
2	47375300	G	A	G47375300A	EPCAM	NM_002354.2(EPCAM):c.491+1G>A	coding	Pathogenic
2	47375300	G	T	G47375300T	EPCAM	NM_002354.2(EPCAM):c.491+1G>T	coding	Pathogenic
2	47375318	A	T	A47375318T	EPCAM	NM_002354.2(EPCAM):c.491+19A>T	noncoding	Benign
2	47377009	T	C	T47377009C	EPCAM	NM_002354.2(EPCAM):c.492-5T>C	noncoding	Benign/Likely_benign
2	47377012	A	G	A47377012G	EPCAM	NM_002354.2(EPCAM):c.492-2A>G	noncoding	Pathogenic
2	47377037	C	T	C47377037T	EPCAM	NM_002354.2(EPCAM):c.515C>T:p.Thr172Met	coding	Benign
2	47377045	C	T	C47377045T	EPCAM	NM_002354.2(EPCAM):c.523C>T:p.Gln175Ter	coding	Pathogenic
2	47378939	A	G	A47378939G	EPCAM	NM_002354.2(EPCAM):c.556-14A>G	noncoding	Pathogenic
2	47379064	A	G	A47379064G	EPCAM	NM_002354.2(EPCAM):c.657+10A>G	noncoding	Benign
2	47379942	A	G	A47379942G	EPCAM	NM_002354.3(EPCAM):c.831A>G	coding	Benign/Likely_benign
2	47379969	G	A	G47379969A	EPCAM	NM_002354.2(EPCAM):c.858G>A:p.Leu286=	coding	Benign/Likely_benign
2	47385159	C	T	C47385159T	EPCAM	NM_002354.2(EPCAM):c.859-7C>T	noncoding	Benign
2	47385160	A	G	A47385160G	EPCAM	NM_002354.2(EPCAM):c.859-6A>G	noncoding	Benign
2	47386560	T	C	T47386560C	EPCAM	NM_002354.3(EPCAM):c.904-12T>C	noncoding	Benign
2	47402759	T	G	T47402759G	MSH2	NM_000251.2(MSH2):c.-68-365T>G	noncoding	Benign
2	47403007	C	A	C47403007A	MSH2	NM_000251.2(MSH2):c.-185C>A	noncoding	Benign/Likely_benign
2	47403074	T	C	T47403074C	MSH2	NM_000251.2(MSH2):c.-118T>C	noncoding	Benign
2	47403169	C	G	C47403169G	MSH2	NM_000251.2(MSH2):c.-23C>G	noncoding	Benign
2	47403198	G	T	G47403198T	MSH2	NM_000251.2(MSH2):c.7G>T:p.Val3Leu	coding	Benign
2	47403210	G	T	G47403210T	MSH2	NM_000251.3(MSH2):c.19G>T:p.Glu7Ter	coding	Pathogenic
2	47403214	C	T	C47403214T	MSH2	NM_000251.2(MSH2):c.23C>T:p.Thr8Met	coding	Benign
2	47403219	C	T	C47403219T	MSH2	NM_000251.2(MSH2):c.28C>T:p.Gln10Ter	coding	Pathogenic
2	47403261	C	T	C47403261T	MSH2	NM_000251.2(MSH2):c.70C>T:p.Gln24Ter	coding	Pathogenic
2	47403273	G	T	G47403273T	MSH2	NM_000251.2(MSH2):c.82G>T:p.Glu28Ter	coding	Pathogenic
2	47403276	A	T	A47403276T	MSH2	NM_000251.2(MSH2):c.85A>T:p.Lys29Ter	coding	Pathogenic
2	47403320	T	G	T47403320G	MSH2	NM_000251.2(MSH2):c.129T>G:p.Tyr43Ter	coding	Pathogenic
2	47403333	G	T	G47403333T	MSH2	NM_000251.2(MSH2):c.142G>T:p.Glu48Ter	coding	Pathogenic
2	47403357	G	T	G47403357T	MSH2	NM_000251.2(MSH2):c.166G>T:p.Glu56Ter	coding	Pathogenic
2	47403366	A	T	A47403366T	MSH2	NM_000251.2(MSH2):c.175A>T:p.Lys59Ter	coding	Pathogenic
2	47403372	C	T	C47403372T	MSH2	NM_000251.2(MSH2):c.181C>T:p.Gln61Ter	coding	Pathogenic
2	47403389	C	A	C47403389A	MSH2	NM_000251.2(MSH2):c.198C>A:p.Tyr66Ter	coding	Pathogenic
2	47403389	C	G	C47403389G	MSH2	NM_000251.3(MSH2):c.198C>G:p.Tyr66Ter	coding	Pathogenic
2	47403403	G	C	G47403403C	MSH2	NM_000251.3(MSH2):c.211+1G>C	coding	Pathogenic
2	47403403	G	T	G47403403T	MSH2	NM_000251.2(MSH2):c.211+1G>T	coding	Pathogenic
2	47403411	C	G	C47403411G	MSH2	NM_000251.3(MSH2):c.211+9C>G	noncoding	Benign
2	47403500	T	C	T47403500C	MSH2	NM_000251.2(MSH2):c.211+98T>C	noncoding	Benign
2	47403573	G	A	G47403573A	MSH2	NM_000251.2(MSH2):c.211+171G>A	noncoding	Benign
2	47408400	G	A	G47408400A	MSH2	NM_000251.2(MSH2):c.212-1G>A	noncoding	Pathogenic
2	47408406	A	T	A47408406T	MSH2	NM_000251.2(MSH2):c.217A>T:p.Lys73Ter	coding	Pathogenic
2	47408415	C	T	C47408415T	MSH2	NM_000251.2(MSH2):c.226C>T:p.Gln76Ter	coding	Pathogenic
2	47408433	A	T	A47408433T	MSH2	NM_000251.2(MSH2):c.244A>T:p.Lys82Ter	coding	Pathogenic
2	47408478	C	T	C47408478T	MSH2	NM_000251.2(MSH2):c.289C>T:p.Gln97Ter	coding	Pathogenic
2	47408483	T	A	T47408483A	MSH2	NM_000251.2(MSH2):c.294T>A:p.Tyr98Ter	coding	Pathogenic
2	47408490	G	T	G47408490T	MSH2	NM_000251.2(MSH2):c.301G>T:p.Glu101Ter	coding	Pathogenic
2	47408506	G	A	G47408506A	MSH2	NM_000251.2(MSH2):c.317G>A:p.Arg106Lys	coding	Benign
2	47408526	A	T	A47408526T	MSH2	NM_000251.3(MSH2):c.337A>T:p.Lys113Ter	coding	Pathogenic
2	47408528	G	A	G47408528A	MSH2	NM_000251.3(MSH2):c.339G>A:p.Lys113=	coding	Benign
2	47408529	G	T	G47408529T	MSH2	NM_000251.2(MSH2):c.340G>T:p.Glu114Ter	coding	Pathogenic/Likely_pathogenic
2	47408539	G	A	G47408539A	MSH2	NM_000251.2(MSH2):c.350G>A:p.Trp117Ter	coding	Pathogenic
2	47408543	T	G	T47408543G	MSH2	NM_000251.2(MSH2):c.354T>G:p.Tyr118Ter	coding	Pathogenic/Likely_pathogenic
2	47408552	T	G	T47408552G	MSH2	NM_000251.2(MSH2):c.363T>G:p.Tyr121Ter	coding	Pathogenic
2	47408556	G	A	G47408556A	MSH2	NM_000251.2(MSH2):c.366+1G>A	coding	Pathogenic/Likely_pathogenic
2	47408557	T	C	T47408557C	MSH2	NM_000251.2(MSH2):c.366+2T>C	noncoding	Pathogenic
2	47410075	A	T	A47410075T	MSH2	NM_000251.2(MSH2):c.367-19A>T	noncoding	Benign/Likely_benign
2	47410107	A	G	A47410107G	MSH2	NM_000251.3(MSH2):c.380A>G:p.Asn127Ser	coding	Benign
2	47410115	C	T	C47410115T	MSH2	NM_000251.2(MSH2):c.388C>T:p.Gln130Ter	coding	Pathogenic
2	47410152	C	A	C47410152A	MSH2	NM_000251.2(MSH2):c.425C>A:p.Ser142Ter	coding	Pathogenic
2	47410152	C	G	C47410152G	MSH2	NM_000251.2(MSH2):c.425C>G:p.Ser142Ter	coding	Pathogenic
2	47410199	C	T	C47410199T	MSH2	NM_000251.2(MSH2):c.472C>T:p.Gln158Ter	coding	Pathogenic
2	47410205	C	T	C47410205T	MSH2	NM_000251.2(MSH2):c.478C>T:p.Gln160Ter	coding	Pathogenic
2	47410209	T	A	T47410209A	MSH2	NM_000251.2(MSH2):c.482T>A:p.Val161Asp	coding	Pathogenic
2	47410211	G	A	G47410211A	MSH2	NM_000251.2(MSH2):c.484G>A:p.Gly162Arg	coding	Pathogenic
2	47410215	T	A	T47410215A	MSH2	NM_000251.2(MSH2):c.488T>A:p.Val163Asp	coding	Pathogenic
2	47410215	T	G	T47410215G	MSH2	NM_000251.2(MSH2):c.488T>G:p.Val163Gly	coding	Pathogenic
2	47410217	G	A	G47410217A	MSH2	NM_000251.3(MSH2):c.490G>A	coding	Pathogenic
2	47410222	T	G	T47410222G	MSH2	NM_000251.2(MSH2):c.495T>G:p.Tyr165Ter	coding	Pathogenic
2	47410226	G	C	G47410226C	MSH2	NM_000251.2(MSH2):c.499G>C:p.Asp167His	coding	Benign
2	47410235	C	T	C47410235T	MSH2	NM_000251.2(MSH2):c.508C>T:p.Gln170Ter	coding	Pathogenic
2	47410245	T	G	T47410245G	MSH2	NM_000251.2(MSH2):c.518T>G:p.Leu173Arg	coding	Pathogenic
2	47410256	G	T	G47410256T	MSH2	NM_000251.2(MSH2):c.529G>T:p.Glu177Ter	coding	Pathogenic
2	47410274	C	T	C47410274T	MSH2	NM_000251.2(MSH2):c.547C>T:p.Gln183Ter	coding	Pathogenic
2	47410287	T	C	T47410287C	MSH2	NM_000251.2(MSH2):c.560T>C:p.Leu187Pro	coding	Pathogenic
2	47410287	T	G	T47410287G	MSH2	NM_000251.2(MSH2):c.560T>G:p.Leu187Arg	coding	Pathogenic
2	47410300	C	T	C47410300T	MSH2	NM_000251.2(MSH2):c.573C>T:p.Leu191=	coding	Benign
2	47410304	C	T	C47410304T	MSH2	NM_000251.2(MSH2):c.577C>T:p.Gln193Ter	coding	Pathogenic
2	47410319	G	T	G47410319T	MSH2	NM_000251.2(MSH2):c.592G>T:p.Glu198Ter	coding	Pathogenic
2	47410320	A	G	A47410320G	MSH2	NM_000251.2(MSH2):c.593A>G:p.Glu198Gly	coding	Benign
2	47410321	A	G	A47410321G	MSH2	NM_000251.2(MSH2):c.594A>G:p.Glu198=	coding	Benign/Likely_benign
2	47410322	T	C	T47410322C	MSH2	NM_000251.2(MSH2):c.595T>C:p.Cys199Arg	coding	Pathogenic
2	47410326	T	A	T47410326A	MSH2	NM_000251.2(MSH2):c.599T>A:p.Val200Asp	coding	Pathogenic
2	47410329	T	A	T47410329A	MSH2	NM_000251.2(MSH2):c.602T>A:p.Leu201Ter	coding	Pathogenic
2	47410337	G	T	G47410337T	MSH2	NM_000251.2(MSH2):c.610G>T:p.Gly204Ter	coding	Pathogenic
2	47410340	G	T	G47410340T	MSH2	NM_000251.2(MSH2):c.613G>T:p.Glu205Ter	coding	Pathogenic
2	47410369	A	G	A47410369G	MSH2	NM_000251.2(MSH2):c.642A>G:p.Arg214=	coding	Benign/Likely_benign
2	47410370	C	T	C47410370T	MSH2	NM_000251.2(MSH2):c.643C>T:p.Gln215Ter	coding	Pathogenic
2	47410373	G	A	G47410373A	MSH2	NM_000251.2(MSH2):c.645+1G>A	coding	Pathogenic
2	47410374	T	C	T47410374C	MSH2	NM_000251.3(MSH2):c.645+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	47410374	T	G	T47410374G	MSH2	NM_000251.2(MSH2):c.645+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	47412242	T	C	T47412242C	MSH2	NM_000251.2(MSH2):c.646-172T>C	noncoding	Benign
2	47412276	A	G	A47412276G	MSH2	NM_000251.2(MSH2):c.646-138A>G	noncoding	Benign
2	47412398	A	T	A47412398T	MSH2	NM_000251.2(MSH2):c.646-16A>T	noncoding	Benign/Likely_benign
2	47412411	T	G	T47412411G	MSH2	NM_000251.2(MSH2):c.646-3T>G	noncoding	Pathogenic
2	47412413	G	C	G47412413C	MSH2	NM_000251.2(MSH2):c.646-1G>C	noncoding	Pathogenic
2	47412420	C	T	C47412420T	MSH2	NM_000251.2(MSH2):c.652C>T:p.Gln218Ter	coding	Pathogenic
2	47412453	A	T	A47412453T	MSH2	NM_000251.2(MSH2):c.685A>T:p.Lys229Ter	coding	Pathogenic
2	47412482	T	G	T47412482G	MSH2	NM_000251.3(MSH2):c.714T>G:p.Tyr238Ter	coding	Pathogenic
2	47412483	C	T	C47412483T	MSH2	NM_000251.2(MSH2):c.715C>T:p.Gln239Ter	coding	Pathogenic
2	47412504	A	T	A47412504T	MSH2	NM_000251.2(MSH2):c.736A>T:p.Lys246Ter	coding	Pathogenic
2	47412516	G	T	G47412516T	MSH2	NM_000251.2(MSH2):c.748G>T:p.Gly250Ter	coding	Pathogenic
2	47412522	C	T	C47412522T	MSH2	NM_000251.2(MSH2):c.754C>T:p.Gln252Ter	coding	Pathogenic
2	47412558	C	T	C47412558T	MSH2	NM_000251.2(MSH2):c.790C>T:p.Gln264Ter	coding	Pathogenic
2	47412561	G	A	G47412561A	MSH2	NM_000251.2(MSH2):c.792+1G>A	coding	Pathogenic
2	47414246	G	A	G47414246A	MSH2	NM_000251.2(MSH2):c.793-23G>A	noncoding	Benign
2	47414267	A	G	A47414267G	MSH2	NM_000251.3(MSH2):c.793-2A>G	noncoding	Pathogenic
2	47414268	G	A	G47414268A	MSH2	NM_000251.2(MSH2):c.793-1G>A	noncoding	Pathogenic/Likely_pathogenic
2	47414279	C	A	C47414279A	MSH2	NM_000251.3(MSH2):c.803C>A:p.Ser268Ter	coding	Pathogenic
2	47414291	C	T	C47414291T	MSH2	NM_000251.3(MSH2):c.815C>T:p.Ala272Val	coding	Benign
2	47414306	T	A	T47414306A	MSH2	NM_000251.2(MSH2):c.830T>A:p.Leu277Ter	coding	Pathogenic
2	47414306	T	G	T47414306G	MSH2	NM_000251.2(MSH2):c.830T>G:p.Leu277Ter	coding	Pathogenic
2	47414308	G	T	G47414308T	MSH2	NM_000251.2(MSH2):c.832G>T:p.Glu278Ter	coding	Pathogenic
2	47414318	C	A	C47414318A	MSH2	NM_000251.2(MSH2):c.842C>A:p.Ser281Ter	coding	Pathogenic
2	47414318	C	G	C47414318G	MSH2	NM_000251.2(MSH2):c.842C>G:p.Ser281Ter	coding	Pathogenic
2	47414335	G	T	G47414335T	MSH2	NM_000251.2(MSH2):c.859G>T:p.Gly287Ter	coding	Pathogenic
2	47414338	C	T	C47414338T	MSH2	NM_000251.2(MSH2):c.862C>T:p.Gln288Ter	coding	Pathogenic
2	47414344	G	T	G47414344T	MSH2	NM_000251.2(MSH2):c.868G>T:p.Glu290Ter	coding	Pathogenic
2	47414368	C	T	C47414368T	MSH2	NM_000251.2(MSH2):c.892C>T:p.Gln298Ter	coding	Pathogenic
2	47414373	T	G	T47414373G	MSH2	NM_000251.2(MSH2):c.897T>G:p.Tyr299Ter	coding	Pathogenic
2	47414377	A	T	A47414377T	MSH2	NM_000251.2(MSH2):c.901A>T:p.Lys301Ter	coding	Pathogenic
2	47414381	T	A	T47414381A	MSH2	NM_000251.2(MSH2):c.905T>A:p.Leu302Ter	coding	Pathogenic
2	47414405	T	C	T47414405C	MSH2	NM_000251.2(MSH2):c.929T>C:p.Leu310Pro	coding	Pathogenic
2	47414416	C	T	C47414416T	MSH2	NM_000251.2(MSH2):c.940C>T:p.Gln314Ter	coding	Pathogenic
2	47414418	G	A	G47414418A	MSH2	NM_000251.2(MSH2):c.942G>A:p.Gln314=	coding	Pathogenic
2	47414419	G	A	G47414419A	MSH2	NM_000251.3(MSH2):c.942+1G>A	coding	Pathogenic/Likely_pathogenic
2	47414420	T	A	T47414420A	MSH2	NM_000251.2(MSH2):c.942+2T>A	noncoding	Pathogenic/Likely_pathogenic
2	47414420	T	C	T47414420C	MSH2	NM_000251.2(MSH2):c.942+2T>C	noncoding	Pathogenic
2	47414421	A	T	A47414421T	MSH2	NM_000251.3(MSH2):c.942+3A>T	noncoding	Pathogenic
2	47414423	A	G	A47414423G	MSH2	NM_000251.3(MSH2):c.942+5A>G	noncoding	Benign
2	47416295	G	T	G47416295T	MSH2	NM_000251.2(MSH2):c.943-1G>T	noncoding	Pathogenic
2	47416318	G	A	G47416318A	MSH2	NM_000251.2(MSH2):c.965G>A:p.Gly322Asp	coding	Benign
2	47416323	C	T	C47416323T	MSH2	NM_000251.2(MSH2):c.970C>T:p.Gln324Ter	coding	Pathogenic
2	47416342	T	C	T47416342C	MSH2	NM_000251.2(MSH2):c.989T>C:p.Leu330Pro	coding	Pathogenic
2	47416350	T	C	T47416350C	MSH2	NM_000251.2(MSH2):c.997T>C:p.Cys333Arg	coding	Pathogenic/Likely_pathogenic
2	47416351	G	A	G47416351A	MSH2	NM_000251.2(MSH2):c.998G>A:p.Cys333Tyr	coding	Pathogenic
2	47416352	T	G	T47416352G	MSH2	NM_000251.2(MSH2):c.999T>G:p.Cys333Trp	coding	Pathogenic
2	47416353	A	T	A47416353T	MSH2	NM_000251.2(MSH2):c.1000A>T:p.Lys334Ter	coding	Pathogenic
2	47416362	C	T	C47416362T	MSH2	NM_000251.2(MSH2):c.1009C>T:p.Gln337Ter	coding	Pathogenic
2	47416366	G	A	G47416366A	MSH2	NM_000251.3(MSH2):c.1013G>A	coding	Pathogenic
2	47416383	C	T	C47416383T	MSH2	NM_000251.2(MSH2):c.1030C>T:p.Gln344Ter	coding	Pathogenic
2	47416387	G	A	G47416387A	MSH2	NM_000251.2(MSH2):c.1034G>A:p.Trp345Ter	coding	Pathogenic
2	47416388	G	A	G47416388A	MSH2	NM_000251.2(MSH2):c.1035G>A:p.Trp345Ter	coding	Pathogenic
2	47416395	C	T	C47416395T	MSH2	NM_000251.2(MSH2):c.1042C>T:p.Gln348Ter	coding	Pathogenic
2	47416399	C	G	C47416399G	MSH2	NM_000251.2(MSH2):c.1046C>G:p.Pro349Arg	coding	Pathogenic
2	47416399	C	T	C47416399T	MSH2	NM_000251.2(MSH2):c.1046C>T:p.Pro349Leu	coding	Pathogenic
2	47416428	A	T	A47416428T	MSH2	NM_000251.2(MSH2):c.1075A>T:p.Arg359Ter	coding	Pathogenic
2	47416430	G	A	G47416430A	MSH2	NM_000251.2(MSH2):c.1076+1G>A	coding	Pathogenic
2	47419829	C	T	C47419829T	MSH2	NM_000251.2(MSH2):c.1076+3400C>T	noncoding	Benign
2	47427705	G	T	G47427705T	MSH2	NM_000251.2(MSH2):c.1077-2037G>T	noncoding	Benign
2	47429662	G	A	G47429662A	MSH2	NM_000251.2(MSH2):c.1077-80G>A	noncoding	Benign
2	47429732	T	C	T47429732C	MSH2	NM_000251.2(MSH2):c.1077-10T>C	noncoding	Benign
2	47429740	A	C	A47429740C	MSH2	NM_000251.2(MSH2):c.1077-2A>C	noncoding	Pathogenic
2	47429742	A	T	A47429742T	MSH2	NM_000251.2(MSH2):c.1077A>T:p.Arg359Ser	coding	Pathogenic
2	47429755	G	T	G47429755T	MSH2	NM_000251.3(MSH2):c.1090G>T:p.Glu364Ter	coding	Pathogenic
2	47429767	G	T	G47429767T	MSH2	NM_000251.3(MSH2):c.1102G>T:p.Glu368Ter	coding	Pathogenic
2	47429776	G	T	G47429776T	MSH2	NM_000251.2(MSH2):c.1111G>T:p.Glu371Ter	coding	Pathogenic
2	47429785	C	T	C47429785T	MSH2	NM_000251.2(MSH2):c.1120C>T:p.Gln374Ter	coding	Pathogenic
2	47429794	C	T	C47429794T	MSH2	NM_000251.2(MSH2):c.1129C>T:p.Gln377Ter	coding	Pathogenic
2	47429796	A	G	A47429796G	MSH2	NM_000251.2(MSH2):c.1131A>G:p.Gln377=	coding	Benign/Likely_benign
2	47429804	T	G	T47429804G	MSH2	NM_000251.2(MSH2):c.1139T>G:p.Leu380Ter	coding	Pathogenic
2	47429812	C	T	C47429812T	MSH2	NM_000251.3(MSH2):c.1147C>T:p.Arg383Ter	coding	Pathogenic
2	47429830	C	T	C47429830T	MSH2	NM_000251.3(MSH2):c.1165C>T:p.Arg389Ter	coding	Pathogenic
2	47429833	C	T	C47429833T	MSH2	NM_000251.3(MSH2):c.1168C>T:p.Leu390Phe	coding	Benign
2	47429848	C	T	C47429848T	MSH2	NM_000251.2(MSH2):c.1183C>T:p.Gln395Ter	coding	Pathogenic
2	47429854	C	T	C47429854T	MSH2	NM_000251.2(MSH2):c.1189C>T:p.Gln397Ter	coding	Pathogenic
2	47429869	C	T	C47429869T	MSH2	NM_000251.2(MSH2):c.1204C>T:p.Gln402Ter	coding	Pathogenic
2	47429880	C	A	C47429880A	MSH2	NM_000251.2(MSH2):c.1215C>A:p.Tyr405Ter	coding	Pathogenic
2	47429880	C	G	C47429880G	MSH2	NM_000251.2(MSH2):c.1215C>G:p.Tyr405Ter	coding	Pathogenic
2	47429881	C	T	C47429881T	MSH2	NM_000251.2(MSH2):c.1216C>T:p.Arg406Ter	coding	Pathogenic
2	47429889	T	G	T47429889G	MSH2	NM_000251.2(MSH2):c.1224T>G:p.Tyr408Ter	coding	Pathogenic/Likely_pathogenic
2	47429890	C	T	C47429890T	MSH2	NM_000251.2(MSH2):c.1225C>T:p.Gln409Ter	coding	Pathogenic
2	47429902	C	T	C47429902T	MSH2	NM_000251.2(MSH2):c.1237C>T:p.Gln413Ter	coding	Pathogenic
2	47429920	C	T	C47429920T	MSH2	NM_000251.2(MSH2):c.1255C>T:p.Gln419Ter	coding	Pathogenic
2	47429929	G	T	G47429929T	MSH2	NM_000251.2(MSH2):c.1264G>T:p.Glu422Ter	coding	Pathogenic
2	47429938	G	T	G47429938T	MSH2	NM_000251.2(MSH2):c.1273G>T:p.Glu425Ter	coding	Pathogenic
2	47429942	G	A	G47429942A	MSH2	NM_000251.2(MSH2):c.1276+1G>A	coding	Pathogenic
2	47429943	T	C	T47429943C	MSH2	NM_000251.2(MSH2):c.1276+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	47429992	C	A	C47429992A	MSH2	NM_000251.2(MSH2):c.1276+51C>A	noncoding	Benign
2	47438558	T	G	T47438558G	MSH2	NM_000251.2(MSH2):c.1277-6990T>G	noncoding	Benign
2	47439699	T	C	T47439699C	MSH2	NM_000251.2(MSH2):c.1277-5849T>C	noncoding	Benign
2	47444603	A	C	A47444603C	MSH2	NM_000251.2(MSH2):c.1277-945A>C	noncoding	Benign
2	47445336	T	A	T47445336A	MSH2	NM_000251.2(MSH2):c.1277-212T>A	noncoding	Benign
2	47445430	G	A	G47445430A	MSH2	NM_000251.2(MSH2):c.1277-118G>A	noncoding	Benign
2	47445540	T	C	T47445540C	MSH2	NM_000251.2(MSH2):c.1277-8T>C	noncoding	Benign/Likely_benign
2	47445546	A	G	A47445546G	MSH2	NM_000251.3(MSH2):c.1277-2A>G	noncoding	Pathogenic
2	47445547	G	T	G47445547T	MSH2	NM_000251.3(MSH2):c.1277-1G>T	noncoding	Pathogenic
2	47445556	C	T	C47445556T	MSH2	NM_000251.2(MSH2):c.1285C>T:p.Gln429Ter	coding	Pathogenic
2	47445559	A	T	A47445559T	MSH2	NM_000251.2(MSH2):c.1288A>T:p.Lys430Ter	coding	Pathogenic
2	47445563	T	A	T47445563A	MSH2	NM_000251.2(MSH2):c.1292T>A:p.Leu431Ter	coding	Pathogenic
2	47445582	G	T	G47445582T	MSH2	NM_000251.2(MSH2):c.1311G>T:p.Val437=	coding	Benign/Likely_benign
2	47445590	T	C	T47445590C	MSH2	NM_000251.2(MSH2):c.1319T>C:p.Leu440Pro	coding	Pathogenic
2	47445616	A	T	A47445616T	MSH2	NM_000251.2(MSH2):c.1345A>T:p.Lys449Ter	coding	Pathogenic
2	47445622	C	T	C47445622T	MSH2	NM_000251.2(MSH2):c.1351C>T:p.Gln451Ter	coding	Pathogenic
2	47445625	G	T	G47445625T	MSH2	NM_000251.2(MSH2):c.1354G>T:p.Glu452Ter	coding	Pathogenic
2	47445629	T	A	T47445629A	MSH2	NM_000251.2(MSH2):c.1358T>A:p.Met453Lys	coding	Pathogenic
2	47445644	T	G	T47445644G	MSH2	NM_000251.2(MSH2):c.1373T>G:p.Leu458Ter	coding	Pathogenic
2	47445655	C	T	C47445655T	MSH2	NM_000251.3(MSH2):c.1384C>T:p.Gln462Ter	coding	Pathogenic/Likely_pathogenic
2	47462781	G	A	G47462781A	MSH2	NM_000251.2(MSH2):c.1387-250G>A	noncoding	Benign
2	47463022	T	A	T47463022A	MSH2	NM_000251.2(MSH2):c.1387-9T>A	noncoding	Pathogenic
2	47463023	G	T	G47463023T	MSH2	NM_000251.2(MSH2):c.1387-8G>T	noncoding	Benign
2	47463034	G	T	G47463034T	MSH2	NM_000251.2(MSH2):c.1390G>T:p.Glu464Ter	coding	Pathogenic
2	47463043	G	T	G47463043T	MSH2	NM_000251.2(MSH2):c.1399G>T:p.Glu467Ter	coding	Pathogenic
2	47463062	C	G	C47463062G	MSH2	NM_000251.2(MSH2):c.1418C>G:p.Ser473Ter	coding	Pathogenic
2	47463086	T	A	T47463086A	MSH2	NM_000251.2(MSH2):c.1442T>A:p.Leu481Ter	coding	Pathogenic
2	47463086	T	G	T47463086G	MSH2	NM_000251.2(MSH2):c.1442T>G:p.Leu481Ter	coding	Pathogenic
2	47463088	A	T	A47463088T	MSH2	NM_000251.2(MSH2):c.1444A>T:p.Arg482Ter	coding	Pathogenic
2	47463091	G	T	G47463091T	MSH2	NM_000251.2(MSH2):c.1447G>T:p.Glu483Ter	coding	Pathogenic
2	47463109	G	T	G47463109T	MSH2	NM_000251.2(MSH2):c.1465G>T:p.Glu489Ter	coding	Pathogenic
2	47463115	A	T	A47463115T	MSH2	NM_000251.3(MSH2):c.1471A>T:p.Lys491Ter	coding	Pathogenic
2	47463121	C	T	C47463121T	MSH2	NM_000251.2(MSH2):c.1477C>T:p.Gln493Ter	coding	Pathogenic
2	47463125	C	G	C47463125G	MSH2	NM_000251.2(MSH2):c.1481C>G:p.Ser494Ter	coding	Pathogenic
2	47463131	T	A	T47463131A	MSH2	NM_000251.2(MSH2):c.1487T>A:p.Leu496Ter	coding	Pathogenic
2	47463156	T	C	T47463156C	MSH2	NM_000251.2(MSH2):c.1510+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	47463265	T	C	T47463265C	MSH2	NM_000251.2(MSH2):c.1510+111T>C	noncoding	Benign
2	47463269	A	G	A47463269G	MSH2	NM_000251.2(MSH2):c.1510+115A>G	noncoding	Benign
2	47463272	T	C	T47463272C	MSH2	NM_000251.2(MSH2):c.1510+118T>C	noncoding	Benign
2	47465142	C	T	C47465142T	MSH2	NM_000251.2(MSH2):c.1511-1516C>T	noncoding	Benign
2	47466567	G	T	G47466567T	MSH2	NM_000251.2(MSH2):c.1511-91G>T	noncoding	Benign
2	47466649	A	T	A47466649T	MSH2	NM_000251.3(MSH2):c.1511-9A>T	noncoding	Benign
2	47466656	A	G	A47466656G	MSH2	NM_000251.2(MSH2):c.1511-2A>G	noncoding	Pathogenic
2	47466657	G	A	G47466657A	MSH2	NM_000251.2(MSH2):c.1511-1G>A	noncoding	Pathogenic/Likely_pathogenic
2	47466672	A	T	A47466672T	MSH2	NM_000251.2(MSH2):c.1525A>T:p.Lys509Ter	coding	Pathogenic
2	47466675	C	T	C47466675T	MSH2	NM_000251.2(MSH2):c.1528C>T:p.Gln510Ter	coding	Pathogenic
2	47466681	A	T	A47466681T	MSH2	NM_000251.3(MSH2):c.1534A>T:p.Lys512Ter	coding	Pathogenic
2	47466699	C	T	C47466699T	MSH2	NM_000251.2(MSH2):c.1552C>T:p.Gln518Ter	coding	Pathogenic
2	47466710	T	A	T47466710A	MSH2	NM_000251.2(MSH2):c.1563T>A:p.Tyr521Ter	coding	Pathogenic
2	47466713	C	A	C47466713A	MSH2	NM_000251.2(MSH2):c.1566C>A:p.Tyr522Ter	coding	Pathogenic
2	47466713	C	G	C47466713G	MSH2	NM_000251.2(MSH2):c.1566C>G:p.Tyr522Ter	coding	Pathogenic
2	47466728	T	A	T47466728A	MSH2	NM_000251.3(MSH2):c.1581T>A:p.Cys527Ter	coding	Pathogenic
2	47466756	A	T	A47466756T	MSH2	NM_000251.3(MSH2):c.1609A>T:p.Lys537Ter	coding	Pathogenic
2	47466795	A	T	A47466795T	MSH2	NM_000251.2(MSH2):c.1648A>T:p.Lys550Ter	coding	Pathogenic
2	47466807	A	G	A47466807G	MSH2	NM_000251.2(MSH2):c.1660A>G:p.Ser554Gly	coding	Pathogenic
2	47466807	A	T	A47466807T	MSH2	NM_000251.2(MSH2):c.1660A>T:p.Ser554Cys	coding	Pathogenic
2	47466808	G	A	G47466808A	MSH2	NM_000251.2(MSH2):c.1661G>A:p.Ser554Asn	coding	Pathogenic/Likely_pathogenic
2	47466808	G	C	G47466808C	MSH2	NM_000251.2(MSH2):c.1661G>C:p.Ser554Thr	coding	Pathogenic
2	47466809	G	C	G47466809C	MSH2	NM_000251.3(MSH2):c.1661+1G>C	coding	Pathogenic
2	47466814	C	A	C47466814A	MSH2	NM_000251.2(MSH2):c.1661+6C>A	noncoding	Benign
2	47466820	G	A	G47466820A	MSH2	NM_000251.3(MSH2):c.1661+12G>A	noncoding	Benign
2	47466825	T	G	T47466825G	MSH2	NM_000251.2(MSH2):c.1661+17T>G	noncoding	Benign/Likely_benign
2	47466898	T	C	T47466898C	MSH2	NM_000251.2(MSH2):c.1661+90T>C	noncoding	Benign
2	47470956	G	A	G47470956A	MSH2	NM_000251.2(MSH2):c.1662-9G>A	noncoding	Benign
2	47470964	G	A	G47470964A	MSH2	NM_000251.3(MSH2):c.1662-1G>A	noncoding	Pathogenic
2	47470969	T	C	T47470969C	MSH2	NM_000251.2(MSH2):c.1666T>C:p.Leu556=	coding	Benign
2	47470970	T	A	T47470970A	MSH2	NM_000251.3(MSH2):c.1667T>A:p.Leu556Ter	coding	Pathogenic
2	47470984	G	T	G47470984T	MSH2	NM_000251.2(MSH2):c.1681G>T:p.Glu561Ter	coding	Pathogenic
2	47470987	G	T	G47470987T	MSH2	NM_000251.2(MSH2):c.1684G>T:p.Glu562Ter	coding	Pathogenic
2	47470993	A	G	A47470993G	MSH2	NM_000251.3(MSH2):c.1690A>G:p.Thr564Ala	coding	Benign
2	47470996	A	T	A47470996T	MSH2	NM_000251.2(MSH2):c.1693A>T:p.Lys565Ter	coding	Pathogenic
2	47471002	A	T	A47471002T	MSH2	NM_000251.2(MSH2):c.1699A>T:p.Lys567Ter	coding	Pathogenic
2	47471023	C	T	C47471023T	MSH2	NM_000251.2(MSH2):c.1720C>T:p.Gln574Ter	coding	Pathogenic
2	47471041	G	T	G47471041T	MSH2	NM_000251.2(MSH2):c.1738G>T:p.Glu580Ter	coding	Pathogenic
2	47471060	C	G	C47471060G	MSH2	NM_000251.2(MSH2):c.1757C>G:p.Ser586Ter	coding	Pathogenic
2	47471062	G	C	G47471062C	MSH2	NM_000251.2(MSH2):c.1759G>C:p.Gly587Arg	coding	Pathogenic
2	47471062	G	T	G47471062T	MSH2	NM_000251.2(MSH2):c.1759G>T:p.Gly587Cys	coding	Pathogenic
2	47471063	G	T	G47471063T	MSH2	NM_000251.2(MSH2):c.1759+1G>T	coding	Pathogenic/Likely_pathogenic
2	47471064	T	A	T47471064A	MSH2	NM_000251.2(MSH2):c.1759+2T>A	noncoding	Pathogenic
2	47471169	A	G	A47471169G	MSH2	NM_000251.2(MSH2):c.1759+107A>G	noncoding	Benign
2	47471245	G	A	G47471245A	MSH2	NM_000251.2(MSH2):c.1759+183G>A	noncoding	Benign
2	47471563	A	G	A47471563G	MSH2	NM_000251.2(MSH2):c.1759+501A>G	noncoding	Benign
2	47474899	A	T	A47474899T	MSH2	NM_000251.2(MSH2):c.1760-126A>T	noncoding	Benign
2	47474963	G	A	G47474963A	MSH2	NM_000251.2(MSH2):c.1760-62G>A	noncoding	Benign
2	47475009	T	G	T47475009G	MSH2	NM_000251.2(MSH2):c.1760-16T>G	noncoding	Benign/Likely_benign
2	47475029	T	G	T47475029G	MSH2	NM_000251.3(MSH2):c.1764T>G	coding	Pathogenic
2	47475042	C	T	C47475042T	MSH2	NM_000251.2(MSH2):c.1777C>T:p.Gln593Ter	coding	Pathogenic
2	47475049	T	G	T47475049G	MSH2	NM_000251.2(MSH2):c.1784T>G:p.Leu595Arg	coding	Pathogenic/Likely_pathogenic
2	47475066	C	T	C47475066T	MSH2	NM_000251.2(MSH2):c.1801C>T:p.Gln601Ter	coding	Pathogenic
2	47475100	C	G	C47475100G	MSH2	NM_000251.2(MSH2):c.1835C>G:p.Ser612Ter	coding	Pathogenic
2	47475105	G	T	G47475105T	MSH2	NM_000251.3(MSH2):c.1840G>T:p.Gly614Ter	coding	Pathogenic
2	47475122	T	G	T47475122G	MSH2	NM_000251.2(MSH2):c.1857T>G:p.Tyr619Ter	coding	Pathogenic
2	47475126	C	T	C47475126T	MSH2	NM_000251.2(MSH2):c.1861C>T:p.Arg621Ter	coding	Pathogenic
2	47475130	C	T	C47475130T	MSH2	NM_000251.2(MSH2):c.1865C>T:p.Pro622Leu	coding	Pathogenic
2	47475147	G	T	G47475147T	MSH2	NM_000251.2(MSH2):c.1882G>T:p.Gly628Ter	coding	Pathogenic
2	47475150	C	T	C47475150T	MSH2	NM_000251.2(MSH2):c.1885C>T:p.Gln629Ter	coding	Pathogenic
2	47475151	A	G	A47475151G	MSH2	NM_000251.2(MSH2):c.1886A>G:p.Gln629Arg	coding	Benign
2	47475153	G	T	G47475153T	MSH2	NM_000251.2(MSH2):c.1888G>T:p.Gly630Ter	coding	Pathogenic
2	47475166	T	G	T47475166G	MSH2	NM_000251.2(MSH2):c.1901T>G:p.Leu634Ter	coding	Pathogenic
2	47475171	G	C	G47475171C	MSH2	NM_000251.2(MSH2):c.1906G>C:p.Ala636Pro	coding	Pathogenic
2	47475180	C	T	C47475180T	MSH2	NM_000251.2(MSH2):c.1915C>T:p.His639Tyr	coding	Pathogenic
2	47475198	C	T	C47475198T	MSH2	NM_000251.2(MSH2):c.1933C>T:p.Gln645Ter	coding	Pathogenic
2	47475204	G	T	G47475204T	MSH2	NM_000251.2(MSH2):c.1939G>T:p.Glu647Ter	coding	Pathogenic
2	47475233	C	A	C47475233A	MSH2	NM_000251.2(MSH2):c.1968C>A:p.Tyr656Ter	coding	Pathogenic
2	47475233	C	G	C47475233G	MSH2	NM_000251.2(MSH2):c.1968C>G:p.Tyr656Ter	coding	Pathogenic
2	47475249	C	T	C47475249T	MSH2	NM_000251.3(MSH2):c.1984C>T:p.Gln662Ter	coding	Pathogenic/Likely_pathogenic
2	47475272	T	C	T47475272C	MSH2	NM_000251.2(MSH2):c.2005+2T>C	noncoding	Pathogenic
2	47476102	A	G	A47476102G	MSH2	NM_000251.2(MSH2):c.2006-265A>G	noncoding	Benign
2	47476240	C	T	C47476240T	MSH2	NM_000251.2(MSH2):c.2006-127C>T	noncoding	Benign
2	47476361	T	C	T47476361C	MSH2	NM_000251.3(MSH2):c.2006-6T>C	noncoding	Benign
2	47476362	T	A	T47476362A	MSH2	NM_000251.2(MSH2):c.2006-5T>A	noncoding	Pathogenic
2	47476367	G	T	G47476367T	MSH2	NM_000251.2(MSH2):c.2006G>T:p.Gly669Val	coding	Pathogenic
2	47476388	C	G	C47476388G	MSH2	NM_000251.2(MSH2):c.2027C>G:p.Ser676Ter	coding	Pathogenic
2	47476395	T	A	T47476395A	MSH2	NM_000251.2(MSH2):c.2034T>A:p.Tyr678Ter	coding	Pathogenic
2	47476399	C	T	C47476399T	MSH2	NM_000251.3(MSH2):c.2038C>T:p.Arg680Ter	coding	Pathogenic
2	47476402	C	T	C47476402T	MSH2	NM_000251.2(MSH2):c.2041C>T:p.Gln681Ter	coding	Pathogenic
2	47476408	G	A	G47476408A	MSH2	NM_000251.2(MSH2):c.2047G>A:p.Gly683Arg	coding	Pathogenic
2	47476424	T	G	T47476424G	MSH2	NM_000251.2(MSH2):c.2063T>G:p.Met688Arg	coding	Pathogenic
2	47476435	G	A	G47476435A	MSH2	NM_000251.2(MSH2):c.2074G>A:p.Gly692Arg	coding	Pathogenic/Likely_pathogenic
2	47476440	T	A	T47476440A	MSH2	NM_000251.2(MSH2):c.2079T>A:p.Cys693Ter	coding	Pathogenic
2	47476444	G	A	G47476444A	MSH2	NM_000251.2(MSH2):c.2083G>A:p.Val695Met	coding	Pathogenic
2	47476448	C	T	C47476448T	MSH2	NM_000251.2(MSH2):c.2087C>T:p.Pro696Leu	coding	Pathogenic
2	47476450	T	C	T47476450C	MSH2	NM_000251.2(MSH2):c.2089T>C:p.Cys697Arg	coding	Pathogenic
2	47476451	G	T	G47476451T	MSH2	NM_000251.2(MSH2):c.2090G>T:p.Cys697Phe	coding	Pathogenic
2	47476452	T	A	T47476452A	MSH2	NM_000251.2(MSH2):c.2091T>A:p.Cys697Ter	coding	Pathogenic
2	47476457	C	G	C47476457G	MSH2	NM_000251.2(MSH2):c.2096C>G:p.Ser699Ter	coding	Pathogenic
2	47476492	C	T	C47476492T	MSH2	NM_000251.3(MSH2):c.2131C>T:p.Arg711Ter	coding	Pathogenic
2	47476513	C	T	C47476513T	MSH2	NM_000251.3(MSH2):c.2152C>T:p.Gln718Ter	coding	Pathogenic
2	47476522	G	T	G47476522T	MSH2	NM_000251.2(MSH2):c.2161G>T:p.Gly721Ter	coding	Pathogenic
2	47476552	G	T	G47476552T	MSH2	NM_000251.2(MSH2):c.2191G>T:p.Glu731Ter	coding	Pathogenic
2	47476566	C	A	C47476566A	MSH2	NM_000251.2(MSH2):c.2205C>A:p.Ile735=	coding	Benign/Likely_benign
2	47476746	G	A	G47476746A	MSH2	NM_000251.2(MSH2):c.2210+175G>A	noncoding	Benign
2	47476845	T	G	T47476845G	MSH2	NM_000251.2(MSH2):c.2210+274T>G	noncoding	Benign
2	47476888	G	C	G47476888C	MSH2	NM_000251.2(MSH2):c.2210+317G>C	noncoding	Benign
2	47478270	A	G	A47478270G	MSH2	NM_000251.2(MSH2):c.2211-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	47478289	C	A	C47478289A	MSH2	NM_000251.2(MSH2):c.2228C>A:p.Ser743Ter	coding	Pathogenic
2	47478289	C	G	C47478289G	MSH2	NM_000251.2(MSH2):c.2228C>G:p.Ser743Ter	coding	Pathogenic
2	47478292	T	G	T47478292G	MSH2	NM_000251.2(MSH2):c.2231T>G:p.Leu744Ter	coding	Pathogenic
2	47478306	G	T	G47478306T	MSH2	NM_000251.3(MSH2):c.2245G>T:p.Glu749Ter	coding	Pathogenic
2	47478309	T	C	T47478309C	MSH2	NM_000251.2(MSH2):c.2248T>C:p.Leu750=	coding	Benign/Likely_benign
2	47478312	G	A	G47478312A	MSH2	NM_000251.2(MSH2):c.2251G>A:p.Gly751Arg	coding	Pathogenic
2	47478336	G	T	G47478336T	MSH2	NM_000251.2(MSH2):c.2275G>T:p.Gly759Ter	coding	Pathogenic
2	47478337	G	A	G47478337A	MSH2	NM_000251.2(MSH2):c.2276G>A:p.Gly759Glu	coding	Benign
2	47478352	G	A	G47478352A	MSH2	NM_000251.2(MSH2):c.2291G>A:p.Trp764Ter	coding	Pathogenic
2	47478353	G	A	G47478353A	MSH2	NM_000251.2(MSH2):c.2292G>A:p.Trp764Ter	coding	Pathogenic
2	47478361	C	G	C47478361G	MSH2	NM_000251.2(MSH2):c.2300C>G:p.Ser767Ter	coding	Pathogenic
2	47478368	C	G	C47478368G	MSH2	NM_000251.2(MSH2):c.2307C>G:p.Tyr769Ter	coding	Pathogenic
2	47478395	C	A	C47478395A	MSH2	NM_000251.2(MSH2):c.2334C>A:p.Cys778Ter	coding	Pathogenic
2	47478416	T	C	T47478416C	MSH2	NM_000251.2(MSH2):c.2355T>C:p.His785=	coding	Benign/Likely_benign
2	47478483	G	T	G47478483T	MSH2	NM_000251.2(MSH2):c.2422G>T:p.Glu808Ter	coding	Pathogenic
2	47478486	G	T	G47478486T	MSH2	NM_000251.2(MSH2):c.2425G>T:p.Glu809Ter	coding	Pathogenic/Likely_pathogenic
2	47478493	T	G	T47478493G	MSH2	NM_000251.2(MSH2):c.2432T>G:p.Leu811Ter	coding	Pathogenic
2	47478507	C	T	C47478507T	MSH2	NM_000251.2(MSH2):c.2446C>T:p.Gln816Ter	coding	Pathogenic
2	47480694	A	G	A47480694G	MSH2	NM_000251.2(MSH2):c.2459-2A>G	noncoding	Pathogenic
2	47480707	C	T	C47480707T	MSH2	NM_000251.2(MSH2):c.2470C>T:p.Gln824Ter	coding	Pathogenic
2	47480770	A	T	A47480770T	MSH2	NM_000251.3(MSH2):c.2533A>T:p.Lys845Ter	coding	Pathogenic
2	47480773	C	T	C47480773T	MSH2	NM_000251.2(MSH2):c.2536C>T:p.Gln846Ter	coding	Pathogenic
2	47480794	G	T	G47480794T	MSH2	NM_000251.2(MSH2):c.2557G>T:p.Glu853Ter	coding	Pathogenic
2	47480800	C	T	C47480800T	MSH2	NM_000251.2(MSH2):c.2563C>T:p.Gln855Ter	coding	Pathogenic
2	47480805	T	A	T47480805A	MSH2	NM_000251.3(MSH2):c.2568T>A:p.Tyr856Ter	coding	Pathogenic
2	47480809	G	T	G47480809T	MSH2	NM_000251.3(MSH2):c.2572G>T:p.Gly858Ter	coding	Pathogenic
2	47480812	G	T	G47480812T	MSH2	NM_000251.2(MSH2):c.2575G>T:p.Glu859Ter	coding	Pathogenic
2	47480816	C	A	C47480816A	MSH2	NM_000251.2(MSH2):c.2579C>A:p.Ser860Ter	coding	Pathogenic
2	47480818	C	T	C47480818T	MSH2	NM_000251.3(MSH2):c.2581C>T:p.Gln861Ter	coding	Pathogenic
2	47480821	G	T	G47480821T	MSH2	NM_000251.3(MSH2):c.2584G>T:p.Gly862Ter	coding	Pathogenic
2	47480859	T	A	T47480859A	MSH2	NM_000251.2(MSH2):c.2622T>A:p.Tyr874Ter	coding	Pathogenic
2	47480863	G	T	G47480863T	MSH2	NM_000251.2(MSH2):c.2626G>T:p.Glu876Ter	coding	Pathogenic
2	47480866	A	T	A47480866T	MSH2	NM_000251.3(MSH2):c.2629A>T:p.Arg877Ter	coding	Pathogenic
2	47480871	G	A	G47480871A	MSH2	NM_000251.2(MSH2):c.2634G>A:p.Glu878=	coding	Pathogenic
2	47480873	T	C	T47480873C	MSH2	NM_000251.2(MSH2):c.2634+2T>C	noncoding	Pathogenic
2	47480873	T	G	T47480873G	MSH2	NM_000251.2(MSH2):c.2634+2T>G	noncoding	Pathogenic
2	47480876	G	C	G47480876C	MSH2	NM_000251.2(MSH2):c.2634+5G>C	noncoding	Pathogenic
2	47482565	T	C	T47482565C	MSH2	NM_000251.2(MSH2):c.2635-214T>C	noncoding	Benign
2	47482755	A	G	A47482755G	MSH2	NM_000251.3(MSH2):c.2635-24A>G	noncoding	Pathogenic
2	47482778	G	A	G47482778A	MSH2	NM_000251.2(MSH2):c.2635-1G>A	noncoding	Pathogenic
2	47482778	G	C	G47482778C	MSH2	NM_000251.2(MSH2):c.2635-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	47482779	C	T	C47482779T	MSH2	NM_000251.2(MSH2):c.2635C>T:p.Gln879Ter	coding	Pathogenic
2	47482797	C	T	C47482797T	MSH2	NM_000251.2(MSH2):c.2653C>T:p.Gln885Ter	coding	Pathogenic
2	47482800	G	T	G47482800T	MSH2	NM_000251.2(MSH2):c.2656G>T:p.Glu886Ter	coding	Pathogenic
2	47482812	A	T	A47482812T	MSH2	NM_000251.2(MSH2):c.2668A>T:p.Lys890Ter	coding	Pathogenic
2	47482910	T	C	T47482910C	MSH2	NM_000251.2(MSH2):c.2766T>C:p.Phe922=	coding	Benign
2	47482946	G	A	G47482946A	MSH2	NM_000251.2(MSH2):c.2802G>A:p.Thr934=	coding	Benign/Likely_benign
2	47483078	T	C	T47483078C	MSH2	NM_000251.2(MSH2):c.*129T>C	noncoding	Benign
2	47485641	A	C	A47485641C	MSH2	NM_000251.2(MSH2):c.*251+2441A>C	noncoding	Benign
2	47487280	G	A	G47487280A	MSH2	NM_000251.2(MSH2):c.*272+4059G>A	noncoding	Benign
2	47512367	G	T	G47512367T	MSH2	NM_022055.2(KCNK12):c.*8540C>A	noncoding	Benign
2	47512372	G	T	G47512372T	MSH2	NM_022055.2(KCNK12):c.*8535C>A	noncoding	Benign
2	47512393	C	T	C47512393T	MSH2	NM_022055.2(KCNK12):c.*8514G>A	noncoding	Benign
2	47512412	A	G	A47512412G	MSH2	NG_007110.2:g.114289A>G	noncoding	Benign
2	47512428	C	T	C47512428T	MSH2	NM_022055.2(KCNK12):c.*8479G>A	noncoding	Benign
2	47512435	C	G	C47512435G	MSH2	NM_022055.2(KCNK12):c.*8472G>C	noncoding	Benign
2	47512439	G	C	G47512439C	MSH2	NM_022055.2(KCNK12):c.*8468C>G	noncoding	Benign
2	47521249	G	A	G47521249A	KCNK12	NM_022055.2(KCNK12):c.951C>T:p.Cys317=	coding	Benign
2	47521348	G	A	G47521348A	KCNK12	NM_022055.2(KCNK12):c.852C>T:p.Ile284=	coding	Benign
2	47782677	T	G	T47782677G	MSH6	NM_000179.2(MSH6):c.-557T>G	noncoding	Benign
2	47782786	G	A	G47782786A	MSH6	NM_000179.2(MSH6):c.-448G>A	noncoding	Benign
2	47783024	C	T	C47783024T	MSH6	NM_000179.2(MSH6):c.-210C>T	noncoding	Benign
2	47783075	C	T	C47783075T	MSH6	NM_000179.2(MSH6):c.-159C>T	noncoding	Benign
2	47783216	G	T	G47783216T	MSH6	NM_000179.2(MSH6):c.-18G>T	noncoding	Benign/Likely_benign
2	47783228	G	T	G47783228T	MSH6	NM_000179.2(MSH6):c.-6G>T	noncoding	Benign/Likely_benign
2	47783236	G	C	G47783236C	MSH6	NM_000179.2(MSH6):c.3G>C:p.Met1Ile	coding	Pathogenic
2	47783243	C	T	C47783243T	MSH6	NM_000179.3(MSH6):c.10C>T:p.Gln4Ter	coding	Pathogenic/Likely_pathogenic
2	47783335	C	A	C47783335A	MSH6	NM_000179.2(MSH6):c.102C>A:p.Ala34=	coding	Benign/Likely_benign
2	47783335	C	T	C47783335T	MSH6	NM_000179.2(MSH6):c.102C>T:p.Ala34=	coding	Benign/Likely_benign
2	47783349	G	A	G47783349A	MSH6	NM_000179.3(MSH6):c.116G>A:p.Gly39Glu	coding	Benign
2	47783387	G	T	G47783387T	MSH6	NM_000179.2(MSH6):c.154G>T:p.Glu52Ter	coding	Pathogenic
2	47783411	T	C	T47783411C	MSH6	NM_000179.2(MSH6):c.178T>C:p.Leu60=	coding	Benign/Likely_benign
2	47783419	C	A	C47783419A	MSH6	NM_000179.3(MSH6):c.186C>A:p.Arg62=	coding	Benign
2	47783453	G	T	G47783453T	MSH6	NM_000179.2(MSH6):c.220G>T:p.Gly74Ter	coding	Pathogenic
2	47783503	T	G	T47783503G	MSH6	NM_000179.2(MSH6):c.260+10T>G	noncoding	Benign/Likely_benign
2	47783515	C	G	C47783515G	MSH6	NM_000179.2(MSH6):c.260+22C>G	noncoding	Benign
2	47785707	C	T	C47785707T	MSH6	NM_000179.2(MSH6):c.260+2214C>T	noncoding	Benign
2	47785960	A	G	A47785960G	MSH6	NM_000179.2(MSH6):c.260+2467A>G	noncoding	Benign
2	47790891	A	G	A47790891G	MSH6	NM_000179.2(MSH6):c.261-36A>G	noncoding	Benign
2	47790913	C	A	C47790913A	MSH6	NM_000179.2(MSH6):c.261-14C>A	noncoding	Benign/Likely_benign
2	47790926	G	C	G47790926C	MSH6	NM_000179.2(MSH6):c.261-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	47790942	A	G	A47790942G	MSH6	NM_000179.3(MSH6):c.276A>G:p.Pro92=	coding	Benign
2	47790981	G	A	G47790981A	MSH6	NM_000179.2(MSH6):c.315G>A:p.Trp105Ter	coding	Pathogenic
2	47790987	T	C	T47790987C	MSH6	NM_000179.2(MSH6):c.321T>C:p.Pro107=	coding	Benign/Likely_benign
2	47791043	C	G	C47791043G	MSH6	NM_000179.2(MSH6):c.377C>G:p.Ser126Ter	coding	Pathogenic
2	47791059	A	C	A47791059C	MSH6	NM_000179.2(MSH6):c.393A>C:p.Val131=	coding	Benign/Likely_benign
2	47791060	C	T	C47791060T	MSH6	NM_000179.2(MSH6):c.394C>T:p.Gln132Ter	coding	Pathogenic
2	47791092	G	A	G47791092A	MSH6	NM_000179.2(MSH6):c.426G>A:p.Trp142Ter	coding	Pathogenic
2	47791097	G	T	G47791097T	MSH6	NM_000179.3(MSH6):c.431G>T:p.Ser144Ile	coding	Benign
2	47791125	T	A	T47791125A	MSH6	NM_000179.2(MSH6):c.457+2T>A	noncoding	Pathogenic
2	47791175	T	A	T47791175A	MSH6	NM_000179.2(MSH6):c.457+52T>A	noncoding	Benign
2	47791517	T	C	T47791517C	MSH6	NM_000179.2(MSH6):c.457+394T>C	noncoding	Benign
2	47792346	T	C	T47792346C	MSH6	NM_000179.2(MSH6):c.457+1223T>C	noncoding	Benign
2	47795897	C	G	C47795897G	MSH6	NM_000179.2(MSH6):c.461C>G:p.Ser154Ter	coding	Pathogenic
2	47795899	A	T	A47795899T	MSH6	NM_000179.2(MSH6):c.463A>T:p.Lys155Ter	coding	Pathogenic
2	47795903	C	G	C47795903G	MSH6	NM_000179.2(MSH6):c.467C>G:p.Ser156Ter	coding	Pathogenic
2	47795914	C	T	C47795914T	MSH6	NM_000179.2(MSH6):c.478C>T:p.Gln160Ter	coding	Pathogenic
2	47795934	C	G	C47795934G	MSH6	NM_000179.3(MSH6):c.498C>G:p.Tyr166Ter	coding	Pathogenic
2	47795976	T	C	T47795976C	MSH6	NM_000179.3(MSH6):c.540T>C:p.Asp180=	coding	Benign
2	47796001	A	T	A47796001T	MSH6	NM_000179.2(MSH6):c.565A>T:p.Lys189Ter	coding	Pathogenic
2	47796035	C	A	C47796035A	MSH6	NM_000179.2(MSH6):c.599C>A:p.Ser200Ter	coding	Pathogenic
2	47796035	C	G	C47796035G	MSH6	NM_000179.2(MSH6):c.599C>G:p.Ser200Ter	coding	Pathogenic
2	47796220	A	G	A47796220G	MSH6	NM_000179.2(MSH6):c.627+157A>G	noncoding	Benign
2	47797263	T	C	T47797263C	MSH6	NM_000179.2(MSH6):c.627+1200T>C	noncoding	Benign
2	47798555	C	T	C47798555T	MSH6	NM_000179.2(MSH6):c.628-56C>T	noncoding	Benign
2	47798594	C	A	C47798594A	MSH6	NM_000179.2(MSH6):c.628-17C>A	noncoding	Benign/Likely_benign
2	47798609	A	G	A47798609G	MSH6	NM_000179.2(MSH6):c.628-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	47798625	C	A	C47798625A	MSH6	NM_000179.2(MSH6):c.642C>A:p.Tyr214Ter	coding	Pathogenic
2	47798625	C	G	C47798625G	MSH6	NM_000179.2(MSH6):c.642C>G:p.Tyr214Ter	coding	Pathogenic
2	47798625	C	T	C47798625T	MSH6	NM_000179.3(MSH6):c.642C>T:p.Tyr214=	coding	Benign
2	47798635	A	T	A47798635T	MSH6	NM_000179.2(MSH6):c.652A>T:p.Lys218Ter	coding	Pathogenic
2	47798677	C	T	C47798677T	MSH6	NM_000179.2(MSH6):c.694C>T:p.Gln232Ter	coding	Pathogenic
2	47798689	C	T	C47798689T	MSH6	NM_000179.2(MSH6):c.706C>T:p.Gln236Ter	coding	Pathogenic
2	47798701	C	T	C47798701T	MSH6	NM_000179.2(MSH6):c.718C>T:p.Arg240Ter	coding	Pathogenic
2	47798713	C	T	C47798713T	MSH6	NM_000179.2(MSH6):c.730C>T:p.Gln244Ter	coding	Pathogenic
2	47798725	C	T	C47798725T	MSH6	NM_000179.2(MSH6):c.742C>T:p.Arg248Ter	coding	Pathogenic
2	47798738	C	G	C47798738G	MSH6	NM_000179.2(MSH6):c.755C>G:p.Ser252Ter	coding	Pathogenic
2	47798797	G	T	G47798797T	MSH6	NM_000179.2(MSH6):c.814G>T:p.Glu272Ter	coding	Pathogenic
2	47798800	G	T	G47798800T	MSH6	NM_000179.2(MSH6):c.817G>T:p.Gly273Ter	coding	Pathogenic
2	47798839	G	T	G47798839T	MSH6	NM_000179.2(MSH6):c.856G>T:p.Glu286Ter	coding	Pathogenic
2	47798875	C	T	C47798875T	MSH6	NM_000179.3(MSH6):c.892C>T:p.Arg298Ter	coding	Pathogenic
2	47798884	A	T	A47798884T	MSH6	NM_000179.3(MSH6):c.901A>T:p.Lys301Ter	coding	Pathogenic
2	47798935	G	T	G47798935T	MSH6	NM_000179.2(MSH6):c.952G>T:p.Glu318Ter	coding	Pathogenic
2	47798940	G	A	G47798940A	MSH6	NM_000179.2(MSH6):c.957G>A:p.Thr319=	coding	Benign/Likely_benign
2	47798940	G	C	G47798940C	MSH6	NM_000179.2(MSH6):c.957G>C:p.Thr319=	coding	Benign/Likely_benign
2	47798956	C	T	C47798956T	MSH6	NM_000179.2(MSH6):c.973C>T:p.Gln325Ter	coding	Pathogenic
2	47798967	C	T	C47798967T	MSH6	NM_000179.2(MSH6):c.984C>T:p.Ser328=	coding	Benign/Likely_benign
2	47798972	C	A	C47798972A	MSH6	NM_000179.2(MSH6):c.989C>A:p.Ser330Ter	coding	Pathogenic
2	47798995	A	T	A47798995T	MSH6	NM_000179.2(MSH6):c.1012A>T:p.Arg338Ter	coding	Pathogenic
2	47799013	C	T	C47799013T	MSH6	NM_000179.2(MSH6):c.1030C>T:p.Gln344Ter	coding	Pathogenic
2	47799022	G	T	G47799022T	MSH6	NM_000179.3(MSH6):c.1039G>T:p.Glu347Ter	coding	Pathogenic
2	47799028	C	T	C47799028T	MSH6	NM_000179.2(MSH6):c.1045C>T:p.Gln349Ter	coding	Pathogenic
2	47799083	A	G	A47799083G	MSH6	NM_000179.2(MSH6):c.1100A>G:p.His367Arg	coding	Pathogenic
2	47799092	T	C	T47799092C	MSH6	NM_000179.2(MSH6):c.1109T>C:p.Leu370Ser	coding	Pathogenic/Likely_pathogenic
2	47799098	G	A	G47799098A	MSH6	NM_000179.2(MSH6):c.1115G>A:p.Trp372Ter	coding	Pathogenic
2	47799147	C	T	C47799147T	MSH6	NM_000179.3(MSH6):c.1164C>T:p.His388=	coding	Benign
2	47799159	T	C	T47799159C	MSH6	NM_000179.2(MSH6):c.1176T>C:p.Asp392=	coding	Benign/Likely_benign
2	47799169	C	G	C47799169G	MSH6	NM_000179.2(MSH6):c.1186C>G:p.Leu396Val	coding	Benign
2	47799176	T	A	T47799176A	MSH6	NM_000179.2(MSH6):c.1193T>A:p.Val398Glu	coding	Pathogenic
2	47799221	G	A	G47799221A	MSH6	NM_000179.2(MSH6):c.1238G>A:p.Trp413Ter	coding	Pathogenic
2	47799224	G	A	G47799224A	MSH6	NM_000179.2(MSH6):c.1241G>A:p.Trp414Ter	coding	Pathogenic
2	47799225	G	A	G47799225A	MSH6	NM_000179.3(MSH6):c.1242G>A:p.Trp414Ter	coding	Pathogenic
2	47799226	C	T	C47799226T	MSH6	NM_000179.2(MSH6):c.1243C>T:p.Gln415Ter	coding	Pathogenic
2	47799238	C	T	C47799238T	MSH6	NM_000179.2(MSH6):c.1255C>T:p.Gln419Ter	coding	Pathogenic
2	47799264	C	A	C47799264A	MSH6	NM_000179.3(MSH6):c.1281C>A:p.Tyr427Ter	coding	Pathogenic
2	47799264	C	G	C47799264G	MSH6	NM_000179.2(MSH6):c.1281C>G:p.Tyr427Ter	coding	Pathogenic
2	47799282	T	A	T47799282A	MSH6	NM_000179.2(MSH6):c.1299T>A:p.Tyr433Ter	coding	Pathogenic
2	47799282	T	G	T47799282G	MSH6	NM_000179.2(MSH6):c.1299T>G:p.Tyr433Ter	coding	Pathogenic
2	47799291	C	A	C47799291A	MSH6	NM_000179.2(MSH6):c.1308C>A:p.Tyr436Ter	coding	Pathogenic
2	47799291	C	G	C47799291G	MSH6	NM_000179.2(MSH6):c.1308C>G:p.Tyr436Ter	coding	Pathogenic
2	47799328	C	T	C47799328T	MSH6	NM_000179.2(MSH6):c.1345C>T:p.Leu449=	coding	Benign
2	47799329	T	C	T47799329C	MSH6	NM_000179.3(MSH6):c.1346T>C:p.Leu449Pro	coding	Pathogenic
2	47799350	G	A	G47799350A	MSH6	NM_000179.2(MSH6):c.1367G>A:p.Trp456Ter	coding	Pathogenic
2	47799351	G	A	G47799351A	MSH6	NM_000179.3(MSH6):c.1368G>A:p.Trp456Ter	coding	Pathogenic
2	47799370	G	T	G47799370T	MSH6	NM_000179.2(MSH6):c.1387G>T:p.Glu463Ter	coding	Pathogenic
2	47799390	T	A	T47799390A	MSH6	NM_000179.2(MSH6):c.1407T>A:p.Tyr469Ter	coding	Pathogenic
2	47799406	C	T	C47799406T	MSH6	NM_000179.2(MSH6):c.1423C>T:p.Gln475Ter	coding	Pathogenic
2	47799422	T	A	T47799422A	MSH6	NM_000179.2(MSH6):c.1439T>A:p.Val480Glu	coding	Pathogenic
2	47799427	C	T	C47799427T	MSH6	NM_000179.2(MSH6):c.1444C>T:p.Arg482Ter	coding	Pathogenic
2	47799433	G	T	G47799433T	MSH6	NM_000179.2(MSH6):c.1450G>T:p.Glu484Ter	coding	Pathogenic
2	47799460	G	T	G47799460T	MSH6	NM_000179.2(MSH6):c.1477G>T:p.Glu493Ter	coding	Pathogenic
2	47799466	C	T	C47799466T	MSH6	NM_000179.3(MSH6):c.1483C>T	coding	Pathogenic
2	47799492	C	T	C47799492T	MSH6	NM_000179.2(MSH6):c.1509C>T:p.Ser503=	coding	Benign/Likely_benign
2	47799498	T	A	T47799498A	MSH6	NM_000179.2(MSH6):c.1515T>A:p.Tyr505Ter	coding	Pathogenic
2	47799498	T	G	T47799498G	MSH6	NM_000179.2(MSH6):c.1515T>G:p.Tyr505Ter	coding	Pathogenic
2	47799555	C	A	C47799555A	MSH6	NM_000179.2(MSH6):c.1572C>A:p.Tyr524Ter	coding	Pathogenic
2	47799555	C	G	C47799555G	MSH6	NM_000179.2(MSH6):c.1572C>G:p.Tyr524Ter	coding	Pathogenic
2	47799674	C	A	C47799674A	MSH6	NM_000179.2(MSH6):c.1691C>A:p.Ser564Ter	coding	Pathogenic/Likely_pathogenic
2	47799674	C	G	C47799674G	MSH6	NM_000179.2(MSH6):c.1691C>G:p.Ser564Ter	coding	Pathogenic
2	47799679	G	T	G47799679T	MSH6	NM_000179.2(MSH6):c.1696G>T:p.Gly566Ter	coding	Pathogenic
2	47799697	C	T	C47799697T	MSH6	NM_000179.2(MSH6):c.1714C>T:p.Gln572Ter	coding	Pathogenic
2	47799704	C	G	C47799704G	MSH6	NM_000179.3(MSH6):c.1721C>G:p.Ser574Ter	coding	Pathogenic
2	47799722	C	A	C47799722A	MSH6	NM_000179.3(MSH6):c.1739C>A:p.Ser580Ter	coding	Pathogenic
2	47799750	T	A	T47799750A	MSH6	NM_000179.2(MSH6):c.1767T>A:p.Tyr589Ter	coding	Pathogenic
2	47799759	A	T	A47799759T	MSH6	NM_000179.2(MSH6):c.1776A>T:p.Val592=	coding	Benign/Likely_benign
2	47799772	G	T	G47799772T	MSH6	NM_000179.2(MSH6):c.1789G>T:p.Glu597Ter	coding	Pathogenic
2	47799778	G	T	G47799778T	MSH6	NM_000179.2(MSH6):c.1795G>T:p.Gly599Ter	coding	Pathogenic
2	47799788	C	A	C47799788A	MSH6	NM_000179.2(MSH6):c.1805C>A:p.Ser602Ter	coding	Pathogenic/Likely_pathogenic
2	47799788	C	G	C47799788G	MSH6	NM_000179.3(MSH6):c.1805C>G:p.Ser602Ter	coding	Pathogenic
2	47799792	G	A	G47799792A	MSH6	NM_000179.2(MSH6):c.1809G>A:p.Lys603=	coding	Benign/Likely_benign
2	47799818	C	A	C47799818A	MSH6	NM_000179.2(MSH6):c.1835C>A:p.Ser612Ter	coding	Pathogenic
2	47799818	C	G	C47799818G	MSH6	NM_000179.2(MSH6):c.1835C>G:p.Ser612Ter	coding	Pathogenic
2	47799852	C	T	C47799852T	MSH6	NM_000179.2(MSH6):c.1869C>T:p.Pro623=	coding	Benign/Likely_benign
2	47799859	C	T	C47799859T	MSH6	NM_000179.2(MSH6):c.1876C>T:p.Gln626Ter	coding	Pathogenic
2	47799866	G	A	G47799866A	MSH6	NM_000179.2(MSH6):c.1883G>A:p.Trp628Ter	coding	Pathogenic/Likely_pathogenic
2	47799884	T	A	T47799884A	MSH6	NM_000179.2(MSH6):c.1901T>A:p.Leu634Ter	coding	Pathogenic
2	47799900	G	A	G47799900A	MSH6	NM_000179.2(MSH6):c.1917G>A:p.Glu639=	coding	Benign/Likely_benign
2	47799904	G	T	G47799904T	MSH6	NM_000179.2(MSH6):c.1921G>T:p.Glu641Ter	coding	Pathogenic
2	47799916	G	T	G47799916T	MSH6	NM_000179.2(MSH6):c.1933G>T:p.Glu645Ter	coding	Pathogenic
2	47799952	C	T	C47799952T	MSH6	NM_000179.2(MSH6):c.1969C>T:p.Gln657Ter	coding	Pathogenic
2	47799976	G	T	G47799976T	MSH6	NM_000179.3(MSH6):c.1993G>T:p.Glu665Ter	coding	Pathogenic
2	47800044	T	A	T47800044A	MSH6	NM_000179.2(MSH6):c.2061T>A:p.Cys687Ter	coding	Pathogenic
2	47800053	C	A	C47800053A	MSH6	NM_000179.2(MSH6):c.2070C>A:p.Tyr690Ter	coding	Pathogenic
2	47800065	C	A	C47800065A	MSH6	NM_000179.3(MSH6):c.2082C>A:p.Cys694Ter	coding	Pathogenic
2	47800088	C	G	C47800088G	MSH6	NM_000179.2(MSH6):c.2105C>G:p.Ser702Ter	coding	Pathogenic
2	47800105	G	T	G47800105T	MSH6	NM_000179.2(MSH6):c.2122G>T:p.Glu708Ter	coding	Pathogenic
2	47800110	T	A	T47800110A	MSH6	NM_000179.2(MSH6):c.2127T>A:p.Tyr709Ter	coding	Pathogenic
2	47800170	C	A	C47800170A	MSH6	NM_000179.2(MSH6):c.2187C>A:p.Ala729=	coding	Benign/Likely_benign
2	47800174	C	T	C47800174T	MSH6	NM_000179.2(MSH6):c.2191C>T:p.Gln731Ter	coding	Pathogenic
2	47800177	C	T	C47800177T	MSH6	NM_000179.3(MSH6):c.2194C>T:p.Arg732Ter	coding	Pathogenic
2	47800202	T	G	T47800202G	MSH6	NM_000179.3(MSH6):c.2219T>G:p.Leu740Ter	coding	Pathogenic
2	47800222	C	T	C47800222T	MSH6	NM_000179.2(MSH6):c.2239C>T:p.Leu747=	coding	Benign/Likely_benign
2	47800236	T	C	T47800236C	MSH6	NM_000179.2(MSH6):c.2253T>C:p.Asn751=	coding	Benign
2	47800255	C	T	C47800255T	MSH6	NM_000179.3(MSH6):c.2272C>T:p.Leu758=	coding	Benign
2	47800278	C	A	C47800278A	MSH6	NM_000179.2(MSH6):c.2295C>A:p.Cys765Ter	coding	Pathogenic
2	47800283	C	T	C47800283T	MSH6	NM_000179.2(MSH6):c.2300C>T:p.Thr767Ile	coding	Pathogenic
2	47800297	C	A	C47800297A	MSH6	NM_000179.2(MSH6):c.2314C>A:p.Arg772=	coding	Benign/Likely_benign
2	47800297	C	T	C47800297T	MSH6	NM_000179.2(MSH6):c.2314C>T:p.Arg772Trp	coding	Pathogenic
2	47800313	G	A	G47800313A	MSH6	NM_000179.2(MSH6):c.2330G>A:p.Trp777Ter	coding	Pathogenic
2	47800314	G	A	G47800314A	MSH6	NM_000179.2(MSH6):c.2331G>A:p.Trp777Ter	coding	Pathogenic
2	47800369	G	T	G47800369T	MSH6	NM_000179.2(MSH6):c.2386G>T:p.Glu796Ter	coding	Pathogenic
2	47800402	G	T	G47800402T	MSH6	NM_000179.3(MSH6):c.2419G>T:p.Glu807Ter	coding	Pathogenic
2	47800486	C	T	C47800486T	MSH6	NM_000179.2(MSH6):c.2503C>T:p.Gln835Ter	coding	Pathogenic
2	47800533	C	A	C47800533A	MSH6	NM_000179.2(MSH6):c.2550C>A:p.Tyr850Ter	coding	Pathogenic
2	47800533	C	G	C47800533G	MSH6	NM_000179.2(MSH6):c.2550C>G:p.Tyr850Ter	coding	Pathogenic
2	47800612	G	T	G47800612T	MSH6	NM_000179.3(MSH6):c.2629G>T:p.Glu877Ter	coding	Pathogenic
2	47800616	T	C	T47800616C	MSH6	NM_000179.2(MSH6):c.2633T>C:p.Val878Ala	coding	Benign
2	47800630	A	T	A47800630T	MSH6	NM_000179.3(MSH6):c.2647A>T:p.Lys883Ter	coding	Pathogenic
2	47800636	A	T	A47800636T	MSH6	NM_000179.2(MSH6):c.2653A>T:p.Lys885Ter	coding	Pathogenic
2	47800645	A	T	A47800645T	MSH6	NM_000179.3(MSH6):c.2662A>T:p.Lys888Ter	coding	Pathogenic
2	47800663	C	T	C47800663T	MSH6	NM_000179.2(MSH6):c.2680C>T:p.Gln894Ter	coding	Pathogenic
2	47800697	T	A	T47800697A	MSH6	NM_000179.2(MSH6):c.2714T>A:p.Leu905Ter	coding	Pathogenic
2	47800707	A	G	A47800707G	MSH6	NM_000179.2(MSH6):c.2724A>G:p.Glu908=	coding	Benign/Likely_benign
2	47800714	C	T	C47800714T	MSH6	NM_000179.2(MSH6):c.2731C>T:p.Arg911Ter	coding	Pathogenic
2	47800718	G	A	G47800718A	MSH6	NM_000179.2(MSH6):c.2735G>A:p.Trp912Ter	coding	Pathogenic
2	47800719	G	A	G47800719A	MSH6	NM_000179.3(MSH6):c.2736G>A:p.Trp912Ter	coding	Pathogenic
2	47800747	C	T	C47800747T	MSH6	NM_000179.2(MSH6):c.2764C>T:p.Arg922Ter	coding	Pathogenic
2	47800794	T	G	T47800794G	MSH6	NM_000179.3(MSH6):c.2811T>G:p.Tyr937Ter	coding	Pathogenic
2	47800798	C	T	C47800798T	MSH6	NM_000179.2(MSH6):c.2815C>T:p.Gln939Ter	coding	Pathogenic
2	47800819	G	T	G47800819T	MSH6	NM_000179.3(MSH6):c.2836G>T	coding	Pathogenic
2	47800825	G	T	G47800825T	MSH6	NM_000179.2(MSH6):c.2842G>T:p.Glu948Ter	coding	Pathogenic
2	47800845	C	G	C47800845G	MSH6	NM_000179.2(MSH6):c.2862C>G:p.Tyr954Ter	coding	Pathogenic
2	47800875	T	A	T47800875A	MSH6	NM_000179.3(MSH6):c.2892T>A:p.Cys964Ter	coding	Pathogenic
2	47800887	C	G	C47800887G	MSH6	NM_000179.2(MSH6):c.2904C>G:p.Val968=	coding	Benign/Likely_benign
2	47800893	G	A	G47800893A	MSH6	NM_000179.2(MSH6):c.2910G>A:p.Trp970Ter	coding	Pathogenic
2	47800908	C	T	C47800908T	MSH6	NM_000179.2(MSH6):c.2925C>T:p.Asn975=	coding	Benign/Likely_benign
2	47800914	C	A	C47800914A	MSH6	NM_000179.2(MSH6):c.2931C>A:p.Tyr977Ter	coding	Pathogenic
2	47800914	C	G	C47800914G	MSH6	NM_000179.2(MSH6):c.2931C>G:p.Tyr977Ter	coding	Pathogenic
2	47800915	C	T	C47800915T	MSH6	NM_000179.2(MSH6):c.2932C>T:p.Gln978Ter	coding	Pathogenic
2	47800952	T	A	T47800952A	MSH6	NM_000179.3(MSH6):c.2969T>A:p.Leu990Ter	coding	Pathogenic
2	47800965	C	G	C47800965G	MSH6	NM_000179.2(MSH6):c.2982C>G:p.Tyr994Ter	coding	Pathogenic
2	47800966	G	T	G47800966T	MSH6	NM_000179.2(MSH6):c.2983G>T:p.Glu995Ter	coding	Pathogenic
2	47800972	A	T	A47800972T	MSH6	NM_000179.2(MSH6):c.2989A>T:p.Lys997Ter	coding	Pathogenic
2	47800996	C	T	C47800996T	MSH6	NM_000179.2(MSH6):c.3013C>T:p.Arg1005Ter	coding	Pathogenic
2	47801001	C	A	C47801001A	MSH6	NM_000179.3(MSH6):c.3018C>A:p.Tyr1006Ter	coding	Pathogenic/Likely_pathogenic
2	47801001	C	G	C47801001G	MSH6	NM_000179.2(MSH6):c.3018C>G:p.Tyr1006Ter	coding	Pathogenic
2	47801003	G	A	G47801003A	MSH6	NM_000179.3(MSH6):c.3020G>A:p.Trp1007Ter	coding	Pathogenic
2	47801004	G	A	G47801004A	MSH6	NM_000179.2(MSH6):c.3021G>A:p.Trp1007Ter	coding	Pathogenic
2	47801007	C	T	C47801007T	MSH6	NM_000179.2(MSH6):c.3024C>T:p.Thr1008=	coding	Benign/Likely_benign
2	47801047	G	T	G47801047T	MSH6	NM_000179.2(MSH6):c.3064G>T:p.Glu1022Ter	coding	Pathogenic
2	47801050	G	T	G47801050T	MSH6	NM_000179.2(MSH6):c.3067G>T:p.Glu1023Ter	coding	Pathogenic
2	47801066	C	G	C47801066G	MSH6	NM_000179.2(MSH6):c.3083C>G:p.Ser1028Ter	coding	Pathogenic
2	47801071	A	T	A47801071T	MSH6	NM_000179.2(MSH6):c.3088A>T:p.Lys1030Ter	coding	Pathogenic
2	47801086	C	T	C47801086T	MSH6	NM_000179.2(MSH6):c.3103C>T:p.Arg1035Ter	coding	Pathogenic
2	47801107	A	T	A47801107T	MSH6	NM_000179.3(MSH6):c.3124A>T:p.Lys1042Ter	coding	Pathogenic
2	47801115	C	A	C47801115A	MSH6	NM_000179.3(MSH6):c.3132C>A:p.Tyr1044Ter	coding	Pathogenic
2	47801115	C	G	C47801115G	MSH6	NM_000179.3(MSH6):c.3132C>G:p.Tyr1044Ter	coding	Pathogenic
2	47801123	G	A	G47801123A	MSH6	NM_000179.2(MSH6):c.3140G>A:p.Trp1047Ter	coding	Pathogenic
2	47801124	G	A	G47801124A	MSH6	NM_000179.3(MSH6):c.3141G>A:p.Trp1047Ter	coding	Pathogenic
2	47801125	C	T	C47801125T	MSH6	NM_000179.2(MSH6):c.3142C>T:p.Gln1048Ter	coding	Pathogenic
2	47801142	T	A	T47801142A	MSH6	NM_000179.2(MSH6):c.3159T>A:p.Cys1053Ter	coding	Pathogenic
2	47801145	C	T	C47801145T	MSH6	NM_000179.2(MSH6):c.3162C>T:p.Ile1054=	coding	Benign/Likely_benign
2	47801156	G	A	G47801156A	MSH6	NM_000179.2(MSH6):c.3172+1G>A	coding	Pathogenic
2	47801157	T	G	T47801157G	MSH6	NM_000179.3(MSH6):c.3172+2T>G	noncoding	Pathogenic
2	47801175	T	C	T47801175C	MSH6	NM_000179.2(MSH6):c.3172+20T>C	noncoding	Benign
2	47801326	C	T	C47801326T	MSH6	NM_000179.2(MSH6):c.3172+171C>T	noncoding	Benign
2	47803319	G	C	G47803319C	MSH6	NM_000179.2(MSH6):c.3173-101G>C	noncoding	Benign
2	47803326	A	G	A47803326G	MSH6	NM_000179.2(MSH6):c.3173-94A>G	noncoding	Benign
2	47803402	T	A	T47803402A	MSH6	NM_000179.2(MSH6):c.3173-18T>A	noncoding	Benign/Likely_benign
2	47803402	T	C	T47803402C	MSH6	NM_000179.2(MSH6):c.3173-18T>C	noncoding	Benign/Likely_benign
2	47803418	A	T	A47803418T	MSH6	NM_000179.2(MSH6):c.3173-2A>T	noncoding	Pathogenic
2	47803419	G	C	G47803419C	MSH6	NM_000179.3(MSH6):c.3173-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	47803435	T	G	T47803435G	MSH6	NM_000179.2(MSH6):c.3188T>G:p.Leu1063Arg	coding	Pathogenic
2	47803449	C	T	C47803449T	MSH6	NM_000179.3(MSH6):c.3202C>T	coding	Pathogenic
2	47803493	G	C	G47803493C	MSH6	NM_000179.2(MSH6):c.3246G>C:p.Pro1082=	coding	Benign/Likely_benign
2	47803493	G	T	G47803493T	MSH6	NM_000179.3(MSH6):c.3246G>T:p.Pro1082=	coding	Benign
2	47803511	C	T	C47803511T	MSH6	NM_000179.2(MSH6):c.3264C>T:p.Phe1088=	coding	Benign/Likely_benign
2	47803512	T	C	T47803512C	MSH6	NM_000179.2(MSH6):c.3265T>C:p.Leu1089=	coding	Benign/Likely_benign
2	47803547	G	A	G47803547A	MSH6	NM_000179.2(MSH6):c.3300G>A:p.Thr1100=	coding	Benign/Likely_benign
2	47803553	T	A	T47803553A	MSH6	NM_000179.2(MSH6):c.3306T>A:p.Thr1102=	coding	Benign
2	47803602	G	T	G47803602T	MSH6	NM_000179.2(MSH6):c.3355G>T:p.Glu1119Ter	coding	Pathogenic
2	47803605	G	T	G47803605T	MSH6	NM_000179.2(MSH6):c.3358G>T:p.Glu1120Ter	coding	Pathogenic
2	47803608	G	T	G47803608T	MSH6	NM_000179.3(MSH6):c.3361G>T:p.Glu1121Ter	coding	Pathogenic
2	47803614	G	T	G47803614T	MSH6	NM_000179.2(MSH6):c.3367G>T:p.Glu1123Ter	coding	Pathogenic
2	47803631	T	C	T47803631C	MSH6	NM_000179.2(MSH6):c.3384T>C:p.Tyr1128=	coding	Benign/Likely_benign
2	47803646	T	C	T47803646C	MSH6	NM_000179.2(MSH6):c.3399T>C:p.Thr1133=	coding	Benign/Likely_benign
2	47803683	C	T	C47803683T	MSH6	NM_000179.2(MSH6):c.3436C>T:p.Gln1146Ter	coding	Pathogenic
2	47803699	A	T	A47803699T	MSH6	NM_000179.3(MSH6):c.3438+14A>T	noncoding	Benign
2	47804894	C	T	C47804894T	MSH6	NM_000179.2(MSH6):c.3439-16C>T	noncoding	Benign
2	47804920	T	A	T47804920A	MSH6	NM_000179.2(MSH6):c.3449T>A:p.Leu1150Ter	coding	Pathogenic
2	47804934	C	T	C47804934T	MSH6	NM_000179.2(MSH6):c.3463C>T:p.Gln1155Ter	coding	Pathogenic/Likely_pathogenic
2	47804948	C	A	C47804948A	MSH6	NM_000179.3(MSH6):c.3477C>A	coding	Pathogenic/Likely_pathogenic
2	47804948	C	G	C47804948G	MSH6	NM_000179.2(MSH6):c.3477C>G:p.Tyr1159Ter	coding	Pathogenic
2	47804958	G	T	G47804958T	MSH6	NM_000179.2(MSH6):c.3487G>T:p.Glu1163Ter	coding	Pathogenic
2	47804997	A	T	A47804997T	MSH6	NM_000179.2(MSH6):c.3526A>T:p.Arg1176Ter	coding	Pathogenic
2	47805010	C	G	C47805010G	MSH6	NM_000179.2(MSH6):c.3539C>G:p.Ser1180Ter	coding	Pathogenic
2	47805025	C	G	C47805025G	MSH6	NM_000179.3(MSH6):c.3554C>G:p.Ser1185Ter	coding	Pathogenic
2	47805028	G	A	G47805028A	MSH6	NM_000179.2(MSH6):c.3556+1G>A	coding	Pathogenic
2	47805028	G	T	G47805028T	MSH6	NM_000179.2(MSH6):c.3556+1G>T	coding	Pathogenic
2	47805173	G	A	G47805173A	MSH6	NM_000179.2(MSH6):c.3556+146G>A	noncoding	Benign
2	47805187	T	C	T47805187C	MSH6	NM_000179.2(MSH6):c.3556+160T>C	noncoding	Benign
2	47805615	A	T	A47805615T	MSH6	NM_000179.2(MSH6):c.3557-3A>T	noncoding	Benign
2	47805647	G	T	G47805647T	MSH6	NM_000179.3(MSH6):c.3586G>T:p.Glu1196Ter	coding	Pathogenic
2	47805693	T	C	T47805693C	MSH6	NM_000179.2(MSH6):c.3632T>C:p.Leu1211Pro	coding	Pathogenic
2	47805798	T	C	T47805798C	MSH6	NM_000179.2(MSH6):c.3646+91T>C	noncoding	Benign
2	47806197	T	G	T47806197G	MSH6	NM_000179.2(MSH6):c.3647-7T>G	noncoding	Benign/Likely_benign
2	47806198	T	C	T47806198C	MSH6	NM_000179.2(MSH6):c.3647-6T>C	noncoding	Benign/Likely_benign
2	47806202	A	C	A47806202C	MSH6	NM_000179.2(MSH6):c.3647-2A>C	noncoding	Pathogenic
2	47806203	G	A	G47806203A	MSH6	NM_000179.2(MSH6):c.3647-1G>A	noncoding	Pathogenic
2	47806257	G	T	G47806257T	MSH6	NM_000179.3(MSH6):c.3700G>T:p.Glu1234Ter	coding	Pathogenic
2	47806286	A	G	A47806286G	MSH6	NM_000179.2(MSH6):c.3729A>G:p.Thr1243=	coding	Benign/Likely_benign
2	47806325	T	G	T47806325G	MSH6	NM_000179.2(MSH6):c.3768T>G:p.Tyr1256Ter	coding	Pathogenic
2	47806329	C	T	C47806329T	MSH6	NM_000179.2(MSH6):c.3772C>T:p.Gln1258Ter	coding	Pathogenic
2	47806350	G	T	G47806350T	MSH6	NM_000179.2(MSH6):c.3793G>T:p.Gly1265Ter	coding	Pathogenic
2	47806372	G	T	G47806372T	MSH6	NM_000179.2(MSH6):c.3801+14G>T	noncoding	Benign/Likely_benign
2	47806375	T	C	T47806375C	MSH6	NM_000179.2(MSH6):c.3801+17T>C	noncoding	Benign/Likely_benign
2	47806412	C	G	C47806412G	MSH6	NM_000179.2(MSH6):c.3802-40C>G	noncoding	Benign
2	47806451	G	C	G47806451C	MSH6	NM_000179.3(MSH6):c.3802-1G>C	noncoding	Pathogenic
2	47806488	C	T	C47806488T	MSH6	NM_000179.2(MSH6):c.3838C>T:p.Gln1280Ter	coding	Pathogenic
2	47806502	G	A	G47806502A	MSH6	NM_000179.2(MSH6):c.3852G>A:p.Thr1284=	coding	Benign/Likely_benign
2	47806502	G	T	G47806502T	MSH6	NM_000179.2(MSH6):c.3852G>T:p.Thr1284=	coding	Benign/Likely_benign
2	47806511	T	G	T47806511G	MSH6	NM_000179.3(MSH6):c.3861T>G:p.Tyr1287Ter	coding	Pathogenic
2	47806590	C	T	C47806590T	MSH6	NM_000179.2(MSH6):c.3940C>T:p.Gln1314Ter	coding	Pathogenic
2	47806610	A	G	A47806610G	MSH6	NM_000179.2(MSH6):c.3960A>G:p.Ala1320=	coding	Benign/Likely_benign
2	47806614	G	T	G47806614T	MSH6	NM_000179.3(MSH6):c.3964G>T	coding	Pathogenic
2	47806623	A	T	A47806623T	MSH6	NM_000179.2(MSH6):c.3973A>T:p.Lys1325Ter	coding	Pathogenic
2	47806641	C	T	C47806641T	MSH6	NM_000179.3(MSH6):c.3991C>T:p.Arg1331Ter	coding	Pathogenic
2	47806651	G	A	G47806651A	MSH6	NM_000179.3(MSH6):c.4001G>A:p.Arg1334Gln	coding	Pathogenic
2	47806653	T	C	T47806653C	MSH6	NM_000179.2(MSH6):c.4001+2T>C	noncoding	Pathogenic
2	47806760	T	C	T47806760C	MSH6	NM_000179.2(MSH6):c.4002-19T>C	noncoding	Benign/Likely_benign
2	47806877	G	A	G47806877A	MSH6	NM_000179.2(MSH6):c.*17G>A	noncoding	Benign/Likely_benign
2	47808144	C	A	C47808144A	FBXO11	NM_001190274.2(FBXO11):c.2758G>T:p.Glu920Ter	coding	Pathogenic
2	47808173	T	C	T47808173C	FBXO11	NM_001190274.2(FBXO11):c.2729A>G:p.Asp910Gly	coding	Pathogenic
2	47823147	T	C	T47823147C	FBXO11	NM_025133.4(FBXO11):c.1360A>G:p.Ile454Val	coding	Pathogenic
2	47823181	T	C	T47823181C	FBXO11	NM_001190274.2(FBXO11):c.1578A>G:p.Ala526=	coding	Benign
2	47823258	G	A	G47823258A	FBXO11	NM_025133.4(FBXO11):c.1249C>T:p.Gln417Ter	coding	Pathogenic
2	47834712	C	T	C47834712T	FBXO11	NM_001190274.2(FBXO11):c.802-1G>A	coding	Pathogenic
2	47839447	T	A	T47839447A	FBXO11	NM_025133.4(FBXO11):c.162A>T:p.Arg54Ser	coding	Pathogenic
2	47839485	T	A	T47839485A	FBXO11	NM_025133.4(FBXO11):c.124A>T:p.Thr42Ser	coding	Benign
2	47905482	G	A	G47905482A	FBXO11	NM_001190274.2(FBXO11):c.232+7C>T	noncoding	Benign
2	48346736	A	G	A48346736G	FOXN2	NM_002158.4(FOXN2):c.522A>G:p.Glu174=	coding	Benign
2	48375092	A	T	A48375092T	FOXN2	NM_002158.4(FOXN2):c.945A>T:p.Ala315=	coding	Benign
2	48495758	G	T	G48495758T	PPP1R21	NM_001135629.3(PPP1R21):c.1679G>T:p.Gly560Val	coding	Benign
2	48580986	G	T	G48580986T	STON1	NM_001198595.1(STON1):c.353G>T:p.Gly118Val	coding	Benign
2	48687162	C	T	C48687162T	LHCGR	NM_000233.4(LHCGR):c.*535G>A	coding	Benign/Likely_benign
2	48687169	A	G	A48687169G	LHCGR	NM_000233.4(LHCGR):c.*528T>C	coding	Benign
2	48687337	C	T	C48687337T	LHCGR	NM_000233.4(LHCGR):c.*360G>A	coding	Benign
2	48687476	C	G	C48687476G	LHCGR	NM_000233.4(LHCGR):c.*221G>C	coding	Benign
2	48687549	A	G	A48687549G	LHCGR	NM_000233.4(LHCGR):c.*148T>C	coding	Benign
2	48687566	G	A	G48687566A	LHCGR	NM_000233.4(LHCGR):c.*131C>T	coding	Benign/Likely_benign
2	48687675	A	C	A48687675C	LHCGR	NM_000233.4(LHCGR):c.*22T>G	coding	Benign/Likely_benign
2	48687922	T	A	T48687922A	LHCGR	NM_000233.4(LHCGR):c.1875A>T:p.Ile625=	coding	Benign/Likely_benign
2	48687923	A	T	A48687923T	LHCGR	NM_000233.4(LHCGR):c.1874T>A:p.Ile625Lys	coding	Pathogenic
2	48687928	A	C	A48687928C	LHCGR	NM_000233.4(LHCGR):c.1869T>G:p.Tyr623Ter	coding	Pathogenic
2	48687950	G	T	G48687950T	LHCGR	NM_000233.4(LHCGR):c.1847C>A:p.Ser616Tyr	coding	Pathogenic
2	48688020	C	G	C48688020G	LHCGR	NM_000233.4(LHCGR):c.1777G>C:p.Ala593Pro	coding	Pathogenic
2	48688064	T	C	T48688064C	LHCGR	NM_000233.4(LHCGR):c.1733A>G:p.Asp578Gly	coding	Pathogenic
2	48688065	C	G	C48688065G	LHCGR	NM_000233.4(LHCGR):c.1732G>C:p.Asp578His	coding	Pathogenic
2	48688067	G	A	G48688067A	LHCGR	NM_000233.4(LHCGR):c.1730C>T:p.Thr577Ile	coding	Pathogenic
2	48688074	T	G	T48688074G	LHCGR	NM_000233.4(LHCGR):c.1723A>C:p.Ile575Leu	coding	Pathogenic
2	48688082	G	A	G48688082A	LHCGR	NM_000233.4(LHCGR):c.1715C>T:p.Ala572Val	coding	Pathogenic
2	48688084	C	T	C48688084T	LHCGR	NM_000233.4(LHCGR):c.1713G>A:p.Met571Ile	coding	Pathogenic
2	48688094	G	A	G48688094A	LHCGR	NM_000233.4(LHCGR):c.1703C>T:p.Ala568Val	coding	Pathogenic
2	48688106	T	C	T48688106C	LHCGR	NM_000233.4(LHCGR):c.1691A>G:p.Asp564Gly	coding	Pathogenic
2	48688128	C	T	C48688128T	LHCGR	NM_000233.4(LHCGR):c.1669G>A:p.Glu557Lys	coding	Benign/Likely_benign
2	48688137	G	A	G48688137A	LHCGR	NM_000233.4(LHCGR):c.1660C>T:p.Arg554Ter	coding	Pathogenic
2	48688162	G	T	G48688162T	LHCGR	NM_000233.4(LHCGR):c.1635C>A:p.Cys545Ter	coding	Pathogenic
2	48688170	A	G	A48688170G	LHCGR	NM_000233.4(LHCGR):c.1627T>C:p.Cys543Arg	coding	Pathogenic
2	48688173	T	G	T48688173G	LHCGR	NM_000233.4(LHCGR):c.1624A>C:p.Ile542Leu	coding	Pathogenic
2	48688292	A	G	A48688292G	LHCGR	NM_000233.4(LHCGR):c.1505T>C:p.Leu502Pro	coding	Pathogenic
2	48688427	A	C	A48688427C	LHCGR	NM_000233.4(LHCGR):c.1370T>G:p.Leu457Arg	coding	Pathogenic
2	48688604	A	G	A48688604G	LHCGR	NM_000233.4(LHCGR):c.1193T>C:p.Met398Thr	coding	Pathogenic/Likely_pathogenic
2	48688679	G	A	G48688679A	LHCGR	NM_000233.4(LHCGR):c.1118C>T:p.Ala373Val	coding	Pathogenic
2	48688694	A	G	A48688694G	LHCGR	NM_000233.4(LHCGR):c.1103T>C:p.Leu368Pro	coding	Pathogenic
2	48688732	A	G	A48688732G	LHCGR	NM_000233.4(LHCGR):c.1065T>C:p.Asp355=	coding	Benign
2	48688737	C	T	C48688737T	LHCGR	NM_000233.4(LHCGR):c.1060G>A:p.Glu354Lys	coding	Pathogenic
2	48688770	A	T	A48688770T	LHCGR	NM_000233.4(LHCGR):c.1027T>A:p.Cys343Ser	coding	Pathogenic
2	48688787	A	G	A48688787G	LHCGR	NM_000233.4(LHCGR):c.1010T>C:p.Leu337Ser	coding	Benign/Likely_benign
2	48694236	T	C	T48694236C	LHCGR	NM_000233.4(LHCGR):c.935A>G:p.Asn312Ser	coding	Benign
2	48694299	T	C	T48694299C	LHCGR	NM_000233.4(LHCGR):c.872A>G:p.Asn291Ser	coding	Benign
2	48698607	C	T	C48698607T	LHCGR	NM_000233.4(LHCGR):c.866+8G>A	noncoding	Benign
2	48708939	T	C	T48708939C	LHCGR	NM_000233.4(LHCGR):c.680+9A>G	noncoding	Benign
2	48709006	C	T	C48709006T	LHCGR	NM_000233.4(LHCGR):c.622G>A:p.Val208Ile	coding	Benign
2	48709018	G	A	G48709018A	LHCGR	NM_000233.4(LHCGR):c.610C>T:p.Leu204=	coding	Benign/Likely_benign
2	48709027	G	A	G48709027A	LHCGR	NM_000233.4(LHCGR):c.606-5C>T	noncoding	Benign/Likely_benign
2	48714011	A	C	A48714011C	LHCGR	NM_000233.4(LHCGR):c.580T>G:p.Phe194Val	coding	Pathogenic
2	48723638	C	A	C48723638A	LHCGR	NM_000233.4(LHCGR):c.442G>T:p.Glu148Ter	coding	Pathogenic
2	48723650	C	A	C48723650A	LHCGR	NM_000233.4(LHCGR):c.430G>T:p.Val144Phe	coding	Pathogenic
2	48723689	A	G	A48723689G	LHCGR	NM_000233.4(LHCGR):c.391T>C:p.Cys131Arg	coding	Pathogenic
2	48725674	A	G	A48725674G	LHCGR	NM_000233.4(LHCGR):c.383+2T>C	noncoding	Pathogenic
2	48725689	G	A	G48725689A	LHCGR	NM_000233.4(LHCGR):c.370C>T:p.Arg124Ter	coding	Pathogenic
2	48755729	C	A	C48755729A	LHCGR	NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A	coding	Benign
2	48962477	G	A	G48962477A	FSHR	NM_000145.3(FSHR):c.*256C>T	noncoding	Benign
2	48962782	C	T	C48962782T	FSHR	NM_000145.3(FSHR):c.2039G>A:p.Ser680Asn	coding	Benign
2	48963061	G	T	G48963061T	FSHR	NM_000145.3(FSHR):c.1760C>A:p.Pro587His	coding	Pathogenic/Likely_pathogenic
2	48963104	G	A	G48963104A	FSHR	NM_000145.3(FSHR):c.1717C>T:p.Arg573Cys	coding	Pathogenic
2	48963122	C	T	C48963122T	FSHR	NM_000145.3(FSHR):c.1699G>A:p.Asp567Asn	coding	Pathogenic
2	48963187	A	G	A48963187G	FSHR	NM_000145.3(FSHR):c.1634T>C:p.Ile545Thr	coding	Pathogenic
2	48963266	G	T	G48963266T	FSHR	NM_000145.3(FSHR):c.1555C>A:p.Pro519Thr	coding	Pathogenic
2	48963475	G	A	G48963475A	FSHR	NM_000145.3(FSHR):c.1346C>T:p.Thr449Ile	coding	Pathogenic
2	48963476	T	C	T48963476C	FSHR	NM_000145.3(FSHR):c.1345A>G:p.Thr449Ala	coding	Pathogenic
2	48963566	C	T	C48963566T	FSHR	NM_000145.3(FSHR):c.1255G>A:p.Ala419Thr	coding	Pathogenic
2	48963902	C	T	C48963902T	FSHR	NM_000145.3(FSHR):c.919G>A:p.Ala307Thr	coding	Benign
2	48982977	G	A	G48982977A	FSHR	NM_000145.3(FSHR):c.603C>T:p.Ser201=	coding	Benign/Likely_benign
2	48983125	G	A	G48983125A	FSHR	NM_000145.3(FSHR):c.566C>T:p.Ala189Val	coding	Pathogenic
2	48990629	G	T	G48990629T	FSHR	NM_000145.3(FSHR):c.383C>A:p.Ser128Tyr	coding	Pathogenic
2	48990646	A	T	A48990646T	FSHR	NM_000145.4(FSHR):c.375-9T>A	noncoding	Benign
2	49154416	A	G	A49154416G	FSHR	NM_000145.3(FSHR):c.2T>C:p.Met1Thr	coding	Pathogenic
2	49154446	C	T	C49154446T	FSHR	NM_000145.3(FSHR):c.-29G>A	noncoding	Benign
2	49919066	C	T	C49919066T	NRXN1	NM_001330078.2(NRXN1):c.*2878G>A	noncoding	Benign
2	49919433	C	G	C49919433G	NRXN1	NM_001330078.2(NRXN1):c.*2511G>C	noncoding	Benign
2	49919572	C	T	C49919572T	NRXN1	NM_001330078.2(NRXN1):c.*2372G>A	noncoding	Benign
2	49919839	T	G	T49919839G	NRXN1	NM_001330078.2(NRXN1):c.*2105A>C	noncoding	Benign
2	49920033	C	A	C49920033A	NRXN1	NM_001330078.2(NRXN1):c.*1911G>T	noncoding	Benign
2	49920252	A	G	A49920252G	NRXN1	NM_001330078.2(NRXN1):c.*1692T>C	noncoding	Benign
2	49920405	G	C	G49920405C	NRXN1	NM_001330078.2(NRXN1):c.*1539C>G	noncoding	Benign
2	49920579	T	C	T49920579C	NRXN1	NM_001330078.2(NRXN1):c.*1365A>G	noncoding	Benign
2	49920617	G	C	G49920617C	NRXN1	NM_001330078.2(NRXN1):c.*1327C>G	noncoding	Benign
2	49921404	A	T	A49921404T	NRXN1	NM_001330078.2(NRXN1):c.*540T>A	noncoding	Benign
2	49921834	C	T	C49921834T	NRXN1	NM_001330078.2(NRXN1):c.*110G>A	noncoding	Benign
2	49921926	C	G	C49921926G	NRXN1	NM_001330078.2(NRXN1):c.*18G>C	noncoding	Benign
2	49921995	C	T	C49921995T	NRXN1	NM_001330078.2(NRXN1):c.4473G>A:p.Ala1491=	coding	Benign/Likely_benign
2	49922130	A	G	A49922130G	NRXN1	NM_001330078.2(NRXN1):c.4338T>C:p.Leu1446=	coding	Benign/Likely_benign
2	49922264	G	A	G49922264A	NRXN1	NM_001330078.2(NRXN1):c.4217-13C>T	noncoding	Benign
2	49922267	T	G	T49922267G	NRXN1	NM_001330078.2(NRXN1):c.4217-16A>C	noncoding	Benign
2	49922372	A	G	A49922372G	NRXN1	NM_001330078.2(NRXN1):c.4217-121T>C	noncoding	Benign
2	49943591	G	C	G49943591C	NRXN1	NM_001330078.2(NRXN1):c.4216+113C>G	noncoding	Benign
2	49943687	A	T	A49943687T	NRXN1	NM_001330078.2(NRXN1):c.4216+17T>A	noncoding	Benign
2	49973972	A	G	A49973972G	NRXN1	NM_001330078.2(NRXN1):c.4129-30181T>C	noncoding	Benign
2	50053331	C	T	C50053331T	NRXN1	NM_001330078.2(NRXN1):c.4068G>A:p.Thr1356=	coding	Benign
2	50053466	T	C	T50053466C	NRXN1	NM_001330078.2(NRXN1):c.3933A>G:p.Ala1311=	coding	Benign/Likely_benign
2	50091523	G	C	G50091523C	NRXN1	NM_001330078.2(NRXN1):c.3547-29C>G	noncoding	Benign
2	50091656	C	T	C50091656T	NRXN1	NM_001330078.2(NRXN1):c.3547-162G>A	noncoding	Benign
2	50091807	A	G	A50091807G	NRXN1	NM_001330078.2(NRXN1):c.3547-313T>C	noncoding	Benign
2	50236562	G	A	G50236562A	NRXN1	NM_001330078.2(NRXN1):c.3546+227C>T	noncoding	Benign
2	50236563	A	G	A50236563G	NRXN1	NM_001330078.2(NRXN1):c.3546+226T>C	noncoding	Benign
2	50236893	G	A	G50236893A	NRXN1	NM_001330078.2(NRXN1):c.3442C>T:p.Arg1148Ter	coding	Pathogenic
2	50236927	C	T	C50236927T	NRXN1	NM_001330078.2(NRXN1):c.3408G>A:p.Thr1136=	coding	Benign/Likely_benign
2	50346673	T	A	T50346673A	NRXN1	NM_001330078.2(NRXN1):c.3365-109703A>T	noncoding	Benign
2	50346679	T	C	T50346679C	NRXN1	NM_001330078.2(NRXN1):c.3365-109709A>G	noncoding	Benign
2	50346800	C	T	C50346800T	NRXN1	NM_001330078.2(NRXN1):c.3365-109830G>A	coding	Benign
2	50346863	C	T	C50346863T	NRXN1	NM_001330078.2(NRXN1):c.3365-109893G>A	coding	Benign
2	50346900	C	A	C50346900A	NRXN1	NM_001330078.2(NRXN1):c.3365-109930G>T	coding	Benign
2	50465321	T	A	T50465321A	NRXN1	NM_001330078.2(NRXN1):c.3364+121A>T	noncoding	Benign
2	50465422	A	G	A50465422G	NRXN1	NM_001330078.2(NRXN1):c.3364+20T>C	noncoding	Benign
2	50465557	G	A	G50465557A	NRXN1	NM_001330078.2(NRXN1):c.3249C>T:p.Pro1083=	coding	Benign/Likely_benign
2	50465563	T	C	T50465563C	NRXN1	NM_001330078.2(NRXN1):c.3245-2A>G	noncoding	Pathogenic
2	50465802	A	G	A50465802G	NRXN1	NM_001330078.2(NRXN1):c.3245-241T>C	noncoding	Benign
2	50472067	C	A	C50472067A	NRXN1	NM_001330078.2(NRXN1):c.3244+231G>T	noncoding	Benign
2	50472167	T	A	T50472167A	NRXN1	NM_001330078.2(NRXN1):c.3244+131A>T	noncoding	Benign
2	50472169	G	T	G50472169T	NRXN1	NM_001330078.2(NRXN1):c.3244+129C>A	noncoding	Benign
2	50472620	C	T	C50472620T	NRXN1	NM_001330078.2(NRXN1):c.3071-149G>A	noncoding	Benign
2	50472752	T	C	T50472752C	NRXN1	NM_001330078.2(NRXN1):c.3071-281A>G	noncoding	Benign
2	50472755	C	T	C50472755T	NRXN1	NM_001330078.2(NRXN1):c.3071-284G>A	noncoding	Benign
2	50495790	G	T	G50495790T	NRXN1	NM_001330078.2(NRXN1):c.3070+115C>A	noncoding	Benign
2	50496039	G	C	G50496039C	NRXN1	NM_001330078.2(NRXN1):c.2936C>G:p.Ser979Ter	coding	Pathogenic
2	50497102	A	G	A50497102G	NRXN1	NM_001330078.2(NRXN1):c.2879+231T>C	noncoding	Benign
2	50497151	A	G	A50497151G	NRXN1	NM_001330078.2(NRXN1):c.2879+182T>C	noncoding	Benign
2	50497313	T	C	T50497313C	NRXN1	NM_001330078.2(NRXN1):c.2879+20A>G	noncoding	Benign
2	50498014	C	G	C50498014G	NRXN1	NM_001330078.2(NRXN1):c.2498-300G>C	noncoding	Benign
2	50498016	C	A	C50498016A	NRXN1	NM_001330078.2(NRXN1):c.2498-302G>T	noncoding	Benign
2	50506407	G	T	G50506407T	NRXN1	NM_001330078.2(NRXN1):c.2497+88C>A	noncoding	Benign
2	50506571	G	A	G50506571A	NRXN1	NM_001330078.2(NRXN1):c.2421C>T:p.Asn807=	coding	Benign/Likely_benign
2	50506607	G	C	G50506607C	NRXN1	NM_001330078.2(NRXN1):c.2385C>G:p.Pro795=	coding	Benign/Likely_benign
2	50506820	T	C	T50506820C	NRXN1	NM_001330078.2(NRXN1):c.2375-203A>G	noncoding	Benign
2	50531209	G	T	G50531209T	NRXN1	NM_001330078.2(NRXN1):c.2347+18C>A	noncoding	Benign
2	50531261	T	C	T50531261C	NRXN1	NM_001330078.2(NRXN1):c.2313A>G:p.Leu771=	coding	Benign
2	50531300	G	T	G50531300T	NRXN1	NM_001330078.2(NRXN1):c.2274C>A:p.Thr758=	coding	Benign/Likely_benign
2	50531381	G	A	G50531381A	NRXN1	NM_001330078.2(NRXN1):c.2193C>T:p.Leu731=	coding	Benign/Likely_benign
2	50538090	A	G	A50538090G	NRXN1	NM_001330078.2(NRXN1):c.2143+163T>C	noncoding	Benign
2	50538234	T	C	T50538234C	NRXN1	NM_001330078.2(NRXN1):c.2143+19A>G	noncoding	Benign
2	50538287	G	A	G50538287A	NRXN1	NM_001330078.2(NRXN1):c.2109C>T:p.Ser703=	coding	Benign/Likely_benign
2	50538311	C	T	C50538311T	NRXN1	NM_001330078.2(NRXN1):c.2085G>A:p.Trp695Ter	coding	Pathogenic
2	50538563	A	G	A50538563G	NRXN1	NM_001330078.2(NRXN1):c.1833T>C:p.Asp611=	coding	Benign
2	50538652	G	A	G50538652A	NRXN1	NM_001330078.2(NRXN1):c.1760-16C>T	noncoding	Benign
2	50538869	T	A	T50538869A	NRXN1	NM_001330078.2(NRXN1):c.1760-233A>T	noncoding	Benign
2	50553081	T	G	T50553081G	NRXN1	NM_001330078.2(NRXN1):c.1321-56A>C	noncoding	Benign
2	50553237	T	C	T50553237C	NRXN1	NM_001330078.2(NRXN1):c.1321-212A>G	noncoding	Benign
2	50553254	G	A	G50553254A	NRXN1	NM_001330078.2(NRXN1):c.1321-229C>T	noncoding	Benign
2	50619875	A	G	A50619875G	NRXN1	NM_001330078.2(NRXN1):c.1320+147T>C	noncoding	Benign
2	50620057	G	A	G50620057A	NRXN1	NM_001330078.2(NRXN1):c.1285C>T:p.Pro429Ser	coding	Benign/Likely_benign
2	50623202	T	A	T50623202A	NRXN1	NM_001330078.2(NRXN1):c.1134+112A>T	noncoding	Benign
2	50623306	G	A	G50623306A	NRXN1	NM_001330078.2(NRXN1):c.1134+8C>T	noncoding	Benign/Likely_benign
2	50623548	G	A	G50623548A	NRXN1	NM_001330078.2(NRXN1):c.900C>T:p.Pro300=	coding	Benign
2	50921602	G	A	G50921602A	NRXN1	NM_001330078.2(NRXN1):c.832+267C>T	noncoding	Benign
2	50921734	T	A	T50921734A	NRXN1	NM_001330078.2(NRXN1):c.832+135A>T	noncoding	Benign
2	50921934	T	C	T50921934C	NRXN1	NM_001330078.2(NRXN1):c.821-54A>G	noncoding	Benign
2	50921964	T	C	T50921964C	NRXN1	NM_001330078.2(NRXN1):c.821-84A>G	noncoding	Benign
2	50922680	C	T	C50922680T	NRXN1	NM_001330078.2(NRXN1):c.798G>A:p.Ala266=	coding	Benign/Likely_benign
2	50925956	C	A	C50925956A	NRXN1	NM_001330078.2(NRXN1):c.773-1G>T	coding	Pathogenic
2	51026095	G	C	G51026095C	NRXN1	NM_001330078.2(NRXN1):c.772+1407C>G	noncoding	Benign
2	51026362	C	T	C51026362T	NRXN1	NM_001330078.2(NRXN1):c.772+1140G>A	noncoding	Benign/Likely_benign
2	51026487	G	T	G51026487T	NRXN1	NM_001330078.2(NRXN1):c.772+1015C>A	noncoding	Benign
2	51027340	G	A	G51027340A	NRXN1	NM_001330078.2(NRXN1):c.772+162C>T	noncoding	Benign
2	51027400	C	G	C51027400G	NRXN1	NM_001330078.2(NRXN1):c.772+102G>C	noncoding	Benign
2	51027763	G	A	G51027763A	NRXN1	NM_001330078.2(NRXN1):c.511C>T:p.Leu171=	coding	Benign
2	51027773	G	C	G51027773C	NRXN1	NM_001330078.2(NRXN1):c.501C>G:p.Leu167=	coding	Benign/Likely_benign
2	51027950	C	T	C51027950T	NRXN1	NM_001330078.2(NRXN1):c.324G>A:p.Pro108=	coding	Benign/Likely_benign
2	51028013	G	T	G51028013T	NRXN1	NM_001330078.2(NRXN1):c.261C>A:p.Gly87=	coding	Benign/Likely_benign
2	51028052	G	A	G51028052A	NRXN1	NM_001330078.2(NRXN1):c.222C>T:p.Gly74=	coding	Benign/Likely_benign
2	51028294	G	T	G51028294T	NRXN1	NM_001330078.2(NRXN1):c.-21C>A	noncoding	Benign
2	51028301	T	G	T51028301G	NRXN1	NM_001330078.2(NRXN1):c.-28A>C	noncoding	Benign
2	51028554	A	G	A51028554G	NRXN1	NM_001330078.2(NRXN1):c.-281T>C	noncoding	Benign
2	51028694	T	G	T51028694G	NRXN1	NM_001330078.2(NRXN1):c.-421A>C	noncoding	Benign
2	51028836	C	G	C51028836G	NRXN1	NM_001330078.2(NRXN1):c.-563G>C	noncoding	Benign
2	51028875	C	T	C51028875T	NRXN1	NM_001330078.2(NRXN1):c.-602G>A	noncoding	Benign
2	51029156	A	G	A51029156G	NRXN1	NM_001330078.2(NRXN1):c.-883T>C	noncoding	Benign
2	51032010	A	G	A51032010G	NRXN1	NM_001330078.2(NRXN1):c.-951T>C	noncoding	Benign
2	53809234	T	C	T53809234C	ERLEC1	NM_015701.5(ERLEC1):c.1062T>C:p.Tyr354=	coding	Benign
2	54255705	G	A	G54255705A	TSPYL6	NM_001003937.3(TSPYL6):c.447C>T:p.Asp149=	coding	Benign
2	54255805	G	A	G54255805A	TSPYL6	NM_001003937.3(TSPYL6):c.347C>T:p.Pro116Leu	coding	Benign
2	54255852	C	G	C54255852G	TSPYL6	NM_001003937.3(TSPYL6):c.300G>C:p.Ala100=	coding	Benign
2	54255864	C	G	C54255864G	TSPYL6	NM_001003937.3(TSPYL6):c.288G>C:p.Glu96Asp	coding	Benign
2	54255942	A	G	A54255942G	TSPYL6	NM_001003937.3(TSPYL6):c.210T>C:p.Thr70=	coding	Benign
2	54255973	G	A	G54255973A	TSPYL6	NM_001003937.3(TSPYL6):c.179C>T:p.Ala60Val	coding	Benign
2	54256000	G	A	G54256000A	TSPYL6	NM_001003937.3(TSPYL6):c.152C>T:p.Pro51Leu	coding	Benign
2	54256092	C	T	C54256092T	TSPYL6	NM_001003937.3(TSPYL6):c.60G>A:p.Pro20=	coding	Benign
2	54256141	G	A	G54256141A	TSPYL6	NM_001003937.3(TSPYL6):c.11C>T:p.Pro4Leu	coding	Benign
2	54256151	T	C	T54256151C	TSPYL6	NM_001003937.3(TSPYL6):c.1A>G:p.Met1Val	coding	Benign
2	54612196	C	T	C54612196T	SPTBN1	NM_003128.3(SPTBN1):c.336C>T:p.Cys112=	coding	Benign
2	54621396	A	G	A54621396G	SPTBN1	NM_003128.3(SPTBN1):c.764-4A>G	noncoding	Benign
2	54626060	C	T	C54626060T	SPTBN1	NM_003128.3(SPTBN1):c.1470C>T:p.Ala490=	coding	Benign
2	54628093	A	G	A54628093G	SPTBN1	NM_003128.3(SPTBN1):c.1645-4A>G	noncoding	Benign
2	54631044	C	T	C54631044T	SPTBN1	NM_003128.3(SPTBN1):c.2997C>T:p.Thr999=	coding	Benign
2	54645920	C	T	C54645920T	SPTBN1	NM_003128.3(SPTBN1):c.4495-8C>T	noncoding	Benign
2	54649653	C	T	C54649653T	SPTBN1	NM_003128.3(SPTBN1):c.5241C>T:p.Thr1747=	coding	Benign
2	54659198	G	A	G54659198A	SPTBN1	NM_003128.3(SPTBN1):c.6288G>A:p.Arg2096=	coding	Benign
2	54664623	G	A	G54664623A	SPTBN1	NM_003128.3(SPTBN1):c.6591G>A:p.Ser2197=	coding	Benign
2	54827700	C	T	C54827700T	EML6	NM_001039753.2(EML6):c.660C>T:p.Ile220=	coding	Benign
2	54866819	C	T	C54866819T	EML6	NM_001039753.2(EML6):c.1986C>T:p.His662=	coding	Benign
2	54928348	C	T	C54928348T	EML6	NM_001039753.2(EML6):c.3711C>T:p.His1237=	coding	Benign
2	54952616	G	A	G54952616A	EML6	NM_001039753.2(EML6):c.4236G>A:p.Glu1412=	coding	Benign
2	54959094	T	C	T54959094C	EML6	NM_001039753.2(EML6):c.4696-10T>C	noncoding	Benign
2	55025123	T	C	T55025123C	RTN4	NM_020532.5(RTN4):c.2976A>G:p.Pro992=	coding	Benign
2	55025340	G	C	G55025340C	RTN4	NM_020532.5(RTN4):c.2759C>G:p.Ser920Cys	coding	Benign
2	55025404	C	G	C55025404G	RTN4	NM_020532.5(RTN4):c.2695G>C:p.Glu899Gln	coding	Benign
2	55026241	A	G	A55026241G	RTN4	NM_020532.5(RTN4):c.1858T>C:p.Leu620=	coding	Benign
2	55026750	G	A	G55026750A	RTN4	NM_020532.5(RTN4):c.1349C>T:p.Thr450Met	coding	Benign
2	55026780	C	T	C55026780T	RTN4	NM_020532.5(RTN4):c.1319G>A:p.Ser440Asn	coding	Benign
2	55234828	C	A	C55234828A	RPS27A	NM_001135592.2(RPS27A):c.190-3C>A	noncoding	Benign
2	55254132	G	C	G55254132C	MTIF2	NM_002453.3(MTIF2):c.573C>G:p.His191Gln	coding	Pathogenic
2	55291767	T	C	T55291767C	CCDC88A	NM_001365480.1(CCDC88A):c.5560A>G:p.Lys1854Glu	coding	Benign
2	55295828	T	C	T55295828C	CCDC88A	NM_001365480.1(CCDC88A):c.5320A>G:p.Thr1774Ala	coding	Benign
2	55296406	C	G	C55296406G	CCDC88A	NM_001365480.1(CCDC88A):c.4943G>C:p.Arg1648Thr	coding	Benign
2	55302043	G	C	G55302043C	CCDC88A	NM_001365480.1(CCDC88A):c.4501C>G:p.Leu1501Val	coding	Benign
2	55312442	T	C	T55312442C	CCDC88A	NM_001365480.1(CCDC88A):c.4071A>G:p.Arg1357=	coding	Benign
2	55315951	T	C	T55315951C	CCDC88A	NM_001365480.1(CCDC88A):c.3910A>G:p.Thr1304Ala	coding	Benign
2	55315966	A	G	A55315966G	CCDC88A	NM_001365480.1(CCDC88A):c.3895T>C:p.Leu1299=	coding	Benign
2	55317349	A	C	A55317349C	CCDC88A	NM_001365480.1(CCDC88A):c.3603T>G:p.Arg1201=	coding	Benign
2	55332628	C	T	C55332628T	CCDC88A	NM_001365480.1(CCDC88A):c.2793G>A:p.Glu931=	coding	Benign
2	55334786	A	G	A55334786G	CCDC88A	NM_001365480.1(CCDC88A):c.2035T>C:p.Leu679=	coding	Benign
2	55336673	G	A	G55336673A	CCDC88A	NM_001365480.1(CCDC88A):c.1656+8C>T	noncoding	Benign
2	55339533	C	G	C55339533G	CCDC88A	NM_001365480.1(CCDC88A):c.1449G>C:p.Val483=	coding	Benign
2	55339575	A	G	A55339575G	CCDC88A	NM_001365480.1(CCDC88A):c.1407T>C:p.Asn469=	coding	Benign
2	55346187	C	T	C55346187T	CCDC88A	NM_001365480.1(CCDC88A):c.1029G>A:p.Lys343=	coding	Benign
2	55346339	C	T	C55346339T	CCDC88A	NM_001365480.1(CCDC88A):c.883-6G>A	noncoding	Benign
2	55388814	T	C	T55388814C	CCDC88A	NM_001365480.1(CCDC88A):c.237A>G:p.Leu79=	coding	Benign
2	55640638	C	A	C55640638A	PNPT1	NM_033109.5(PNPT1):c.2137G>T:p.Asp713Tyr	coding	Pathogenic
2	55640710	A	G	A55640710G	PNPT1	NM_033109.5(PNPT1):c.2070-5T>C	noncoding	Benign
2	55643184	T	C	T55643184C	PNPT1	NM_033109.5(PNPT1):c.2043A>G:p.Val681=	coding	Benign
2	55643394	C	T	C55643394T	PNPT1	NM_033109.5(PNPT1):c.1938G>A:p.Thr646=	coding	Benign
2	55643692	A	G	A55643692G	PNPT1	NM_033109.5(PNPT1):c.1907-267T>C	noncoding	Benign
2	55645353	A	C	A55645353C	PNPT1	NM_033109.5(PNPT1):c.1818T>G:p.Val606=	coding	Pathogenic
2	55645403	T	C	T55645403C	PNPT1	NM_033109.5(PNPT1):c.1768A>G:p.Asn590Asp	coding	Benign
2	55646166	T	A	T55646166A	PNPT1	NM_033109.5(PNPT1):c.1738+93A>T	noncoding	Benign
2	55646222	G	C	G55646222C	PNPT1	NM_033109.5(PNPT1):c.1738+37C>G	noncoding	Benign
2	55646250	C	G	C55646250G	PNPT1	NM_033109.5(PNPT1):c.1738+9G>C	noncoding	Benign
2	55646457	G	A	G55646457A	PNPT1	NM_033109.5(PNPT1):c.1632C>T:p.Asp544=	coding	Benign
2	55646470	T	C	T55646470C	PNPT1	NM_033109.5(PNPT1):c.1619A>G:p.Asn540Ser	coding	Pathogenic
2	55647421	C	G	C55647421G	PNPT1	NM_033109.5(PNPT1):c.1528G>C:p.Ala510Pro	coding	Pathogenic
2	55654681	C	T	C55654681T	PNPT1	NM_033109.5(PNPT1):c.1495+219G>A	noncoding	Benign
2	55654900	C	G	C55654900G	PNPT1	NM_033109.5(PNPT1):c.1495G>C:p.Gly499Arg	coding	Pathogenic
2	55656148	T	C	T55656148C	PNPT1	NM_033109.5(PNPT1):c.1424A>G:p.Glu475Gly	coding	Pathogenic
2	55656182	G	A	G55656182A	PNPT1	NM_033109.5(PNPT1):c.1390C>T:p.Arg464Ter	coding	Pathogenic
2	55656182	G	T	G55656182T	PNPT1	NM_033109.5(PNPT1):c.1390C>A:p.Arg464=	coding	Benign
2	55656578	C	A	C55656578A	PNPT1	NM_033109.5(PNPT1):c.1285-207G>T	noncoding	Benign
2	55656598	C	A	C55656598A	PNPT1	NM_033109.5(PNPT1):c.1285-227G>T	noncoding	Benign
2	55660190	C	T	C55660190T	PNPT1	NM_033109.5(PNPT1):c.1251G>A:p.Gly417=	coding	Benign/Likely_benign
2	55661927	G	A	G55661927A	PNPT1	NM_033109.5(PNPT1):c.1247+29C>T	noncoding	Benign
2	55662319	G	A	G55662319A	PNPT1	NM_033109.5(PNPT1):c.1177-293C>T	noncoding	Benign
2	55662331	G	A	G55662331A	PNPT1	NM_033109.5(PNPT1):c.1177-305C>T	noncoding	Benign
2	55667007	T	C	T55667007C	PNPT1	NM_033109.5(PNPT1):c.1160A>G:p.Gln387Arg	coding	Pathogenic
2	55667097	T	A	T55667097A	PNPT1	NM_033109.5(PNPT1):c.1074-4A>T	noncoding	Benign
2	55667108	G	A	G55667108A	PNPT1	NM_033109.5(PNPT1):c.1074-15C>T	noncoding	Benign
2	55667112	T	C	T55667112C	PNPT1	NM_033109.5(PNPT1):c.1074-19A>G	noncoding	Benign
2	55667293	G	A	G55667293A	PNPT1	NM_033109.5(PNPT1):c.1074-200C>T	noncoding	Benign
2	55668170	T	C	T55668170C	PNPT1	NM_033109.5(PNPT1):c.977-212A>G	noncoding	Benign
2	55668186	T	C	T55668186C	PNPT1	NM_033109.5(PNPT1):c.977-228A>G	noncoding	Benign
2	55671155	C	G	C55671155G	PNPT1	NM_033109.5(PNPT1):c.976+164G>C	noncoding	Benign
2	55671351	T	C	T55671351C	PNPT1	NM_033109.5(PNPT1):c.944A>G:p.Lys315Arg	coding	Benign/Likely_benign
2	55671794	A	G	A55671794G	PNPT1	NM_033109.5(PNPT1):c.918+201T>C	noncoding	Benign
2	55671795	C	T	C55671795T	PNPT1	NM_033109.5(PNPT1):c.918+200G>A	noncoding	Benign
2	55672007	G	A	G55672007A	PNPT1	NM_033109.5(PNPT1):c.906C>T:p.Tyr302=	coding	Benign
2	55672093	A	T	A55672093T	PNPT1	NM_033109.5(PNPT1):c.867-47T>A	noncoding	Benign
2	55672290	T	C	T55672290C	PNPT1	NM_033109.5(PNPT1):c.867-244A>G	noncoding	Benign
2	55672898	A	T	A55672898T	PNPT1	NM_033109.5(PNPT1):c.861T>A:p.Thr287=	coding	Benign
2	55672907	C	G	C55672907G	PNPT1	NM_033109.5(PNPT1):c.852G>C:p.Val284=	coding	Benign/Likely_benign
2	55672970	T	C	T55672970C	PNPT1	NM_033109.5(PNPT1):c.789A>G:p.Val263=	coding	Benign
2	55672999	G	T	G55672999T	PNPT1	NM_033109.5(PNPT1):c.760C>A:p.Gln254Lys	coding	Pathogenic
2	55673148	A	G	A55673148G	PNPT1	NM_033109.5(PNPT1):c.680-69T>C	noncoding	Benign
2	55679801	A	G	A55679801G	PNPT1	NM_033109.5(PNPT1):c.566-6T>C	noncoding	Benign
2	55683831	C	T	C55683831T	PNPT1	NM_033109.5(PNPT1):c.407G>A:p.Arg136His	coding	Pathogenic
2	55683835	C	T	C55683835T	PNPT1	NM_033109.5(PNPT1):c.404-1G>A	coding	Pathogenic
2	55684985	T	C	T55684985C	PNPT1	NM_033109.5(PNPT1):c.361A>G:p.Ile121Val	coding	Benign
2	55687486	T	C	T55687486C	PNPT1	NM_033109.5(PNPT1):c.222+159A>G	noncoding	Benign
2	55687659	A	G	A55687659G	PNPT1	NM_033109.5(PNPT1):c.208T>C:p.Ser70Pro	coding	Pathogenic
2	55693528	T	C	T55693528C	PNPT1	NM_033109.5(PNPT1):c.161+135A>G	noncoding	Benign
2	55693614	C	T	C55693614T	PNPT1	NM_033109.5(PNPT1):c.161+49G>A	noncoding	Benign
2	55693702	C	G	C55693702G	PNPT1	NM_033109.5(PNPT1):c.122G>C:p.Ser41Thr	coding	Benign/Likely_benign
2	55866010	C	T	C55866010T	EFEMP1	NM_001039348.3(EFEMP1):c.*1063G>A	noncoding	Benign
2	55866047	G	A	G55866047A	EFEMP1	NM_001039348.3(EFEMP1):c.*1026C>T	noncoding	Benign
2	55866069	G	C	G55866069C	EFEMP1	NM_001039348.3(EFEMP1):c.*1004C>G	noncoding	Benign
2	55866111	G	T	G55866111T	EFEMP1	NM_001039348.3(EFEMP1):c.*962C>A	noncoding	Benign
2	55866273	G	A	G55866273A	EFEMP1	NM_001039348.3(EFEMP1):c.*800C>T	noncoding	Benign
2	55866378	A	G	A55866378G	EFEMP1	NM_001039348.3(EFEMP1):c.*695T>C	noncoding	Benign
2	55866386	A	G	A55866386G	EFEMP1	NM_001039348.3(EFEMP1):c.*687T>C	noncoding	Benign
2	55866405	G	A	G55866405A	EFEMP1	NM_001039348.3(EFEMP1):c.*668C>T	noncoding	Benign
2	55866424	G	A	G55866424A	EFEMP1	NM_001039348.3(EFEMP1):c.*649C>T	noncoding	Benign
2	55866566	G	A	G55866566A	EFEMP1	NM_001039348.3(EFEMP1):c.*507C>T	noncoding	Benign
2	55866825	T	G	T55866825G	EFEMP1	NM_001039348.3(EFEMP1):c.*248A>C	noncoding	Benign
2	55866905	T	C	T55866905C	EFEMP1	NM_001039348.3(EFEMP1):c.*168A>G	noncoding	Benign
2	55870880	C	T	C55870880T	EFEMP1	NM_001039348.3(EFEMP1):c.1160G>A:p.Arg387Gln	coding	Benign
2	55871091	G	A	G55871091A	EFEMP1	NM_001039348.3(EFEMP1):c.1033C>T:p.Arg345Trp	coding	Pathogenic
2	55871137	G	A	G55871137A	EFEMP1	NM_001039348.3(EFEMP1):c.1001-14C>T	noncoding	Benign
2	55881606	A	G	A55881606G	EFEMP1	NM_001039348.3(EFEMP1):c.640+6T>C	noncoding	Benign/Likely_benign
2	55881637	A	T	A55881637T	EFEMP1	NM_001039348.3(EFEMP1):c.615T>A:p.Tyr205Ter	coding	Pathogenic
2	55881745	C	T	C55881745T	EFEMP1	NM_001039348.3(EFEMP1):c.518-11G>A	noncoding	Benign
2	55881747	T	C	T55881747C	EFEMP1	NM_001039348.3(EFEMP1):c.518-13A>G	noncoding	Benign
2	55917693	G	A	G55917693A	EFEMP1	NM_001039348.3(EFEMP1):c.489C>T:p.Tyr163=	coding	Benign
2	55917795	T	C	T55917795C	EFEMP1	NM_001039348.3(EFEMP1):c.387A>G:p.Glu129=	coding	Benign
2	55917885	G	A	G55917885A	EFEMP1	NM_001039348.3(EFEMP1):c.297C>T:p.Thr99=	coding	Benign
2	55917936	T	C	T55917936C	EFEMP1	NM_001039348.3(EFEMP1):c.246A>G:p.Glu82=	coding	Benign
2	55917975	G	T	G55917975T	EFEMP1	NM_001039348.3(EFEMP1):c.207C>A:p.Leu69=	coding	Benign
2	55922907	A	T	A55922907T	EFEMP1	NM_001039348.3(EFEMP1):c.-16T>A	noncoding	Benign
2	55923714	T	C	T55923714C	EFEMP1	NM_001039348.3(EFEMP1):c.-52A>G	noncoding	Benign
2	55923722	C	T	C55923722T	EFEMP1	NM_001039348.3(EFEMP1):c.-60G>A	noncoding	Benign
2	55923726	G	A	G55923726A	EFEMP1	NM_001039348.3(EFEMP1):c.-64C>T	noncoding	Benign
2	55923729	C	T	C55923729T	EFEMP1	NM_001039348.3(EFEMP1):c.-67G>A	noncoding	Benign
2	55923750	G	A	G55923750A	EFEMP1	NM_001039348.3(EFEMP1):c.-88C>T	noncoding	Benign
2	55923767	G	A	G55923767A	EFEMP1	NM_001039348.3(EFEMP1):c.-105C>T	noncoding	Benign
2	55923858	G	A	G55923858A	EFEMP1	NM_001039348.2(EFEMP1):c.-196C>T	noncoding	Benign
2	55924030	C	G	C55924030G	EFEMP1	NM_001039348.2(EFEMP1):c.-368G>C	noncoding	Benign
2	55924122	G	T	G55924122T	EFEMP1	NM_001039348.2(EFEMP1):c.-460C>A	noncoding	Benign
2	58159670	T	C	T58159670C	FANCL	NM_018062.4(FANCL):c.*95A>G	coding	Benign
2	58160108	C	T	C58160108T	FANCL	NM_018062.4(FANCL):c.1092G>A:p.Lys364=	coding	Pathogenic
2	58160123	A	G	A58160123G	FANCL	NM_001114636.1(FANCL):c.1092T>C:p.Cys364=	coding	Benign
2	58161561	A	G	A58161561G	FANCL	NM_001114636.1(FANCL):c.996T>C:p.Ser332=	coding	Benign
2	58163033	A	G	A58163033G	FANCL	NM_001114636.1(FANCL):c.832T>C:p.Leu278=	coding	Benign/Likely_benign
2	58163454	A	C	A58163454C	FANCL	NM_001114636.1(FANCL):c.770T>G:p.Phe257Cys	coding	Benign/Likely_benign
2	58163470	T	C	T58163470C	FANCL	NM_018062.4(FANCL):c.739A>G:p.Met247Val	coding	Benign
2	58165745	T	C	T58165745C	FANCL	NM_001114636.1(FANCL):c.685A>G:p.Thr229Ala	coding	Benign/Likely_benign
2	58198660	A	T	A58198660T	FANCL	NM_018062.4(FANCL):c.474T>A:p.Tyr158Ter	coding	Pathogenic
2	58204199	A	G	A58204199G	FANCL	NM_001114636.1(FANCL):c.402T>C:p.Ser134=	coding	Benign/Likely_benign
2	58204275	G	C	G58204275C	FANCL	NM_001114636.1(FANCL):c.375-49C>G	noncoding	Benign
2	58206240	A	G	A58206240G	FANCL	NM_001114636.1(FANCL):c.375-2014T>C	noncoding	Benign
2	58206259	G	C	G58206259C	FANCL	NM_018062.4(FANCL):c.375-2033C>G	noncoding	Pathogenic
2	58226795	A	G	A58226795G	FANCL	NM_001114636.1(FANCL):c.217-11T>C	noncoding	Benign
2	58229819	G	A	G58229819A	FANCL	NM_001114636.1(FANCL):c.211C>T:p.Gln71Ter	coding	Pathogenic
2	58232097	G	A	G58232097A	FANCL	NM_001114636.1(FANCL):c.112C>T:p.Leu38Phe	coding	Benign/Likely_benign
2	58232101	G	C	G58232101C	FANCL	NM_001114636.1(FANCL):c.108C>G:p.Phe36Leu	coding	Benign/Likely_benign
2	58241221	A	G	A58241221G	FANCL	NM_018062.4(FANCL):c.93T>C:p.Ala31=	coding	Benign
2	58241278	G	T	G58241278T	FANCL	NM_018062.4(FANCL):c.36C>A:p.Cys12Ter	coding	Pathogenic
2	58241352	T	C	T58241352C	FANCL	NM_001114636.1(FANCL):c.-39A>G	noncoding	Benign
2	60461081	C	A	C60461081A	BCL11A	NM_022893.4(BCL11A):c.1831G>T:p.Glu611Ter	coding	Pathogenic
2	60461196	G	A	G60461196A	BCL11A	NM_022893.4(BCL11A):c.1716C>T:p.Arg572=	coding	Benign
2	60461249	T	A	T60461249A	BCL11A	NM_022893.4(BCL11A):c.1663A>T:p.Met555Leu	coding	Pathogenic
2	60461317	G	A	G60461317A	BCL11A	NM_022893.4(BCL11A):c.1595C>T:p.Ala532Val	coding	Benign
2	60461349	C	T	C60461349T	BCL11A	NM_022893.4(BCL11A):c.1563G>A:p.Ala521=	coding	Benign
2	60461604	G	A	G60461604A	BCL11A	NM_022893.4(BCL11A):c.1308C>T:p.Val436=	coding	Benign
2	60461793	C	T	C60461793T	BCL11A	NM_022893.4(BCL11A):c.1119G>A:p.Pro373=	coding	Benign
2	60461960	T	A	T60461960A	BCL11A	NM_022893.4(BCL11A):c.952A>T:p.Arg318Ter	coding	Pathogenic
2	60462012	C	T	C60462012T	BCL11A	NM_022893.4(BCL11A):c.900G>A:p.Val300=	coding	Benign
2	60462372	G	C	G60462372C	BCL11A	NM_022893.4(BCL11A):c.540C>G:p.Thr180=	coding	Benign
2	60462383	G	A	G60462383A	BCL11A	NM_022893.4(BCL11A):c.529C>T:p.Gln177Ter	coding	Pathogenic
2	60493111	C	T	C60493111T	BCL11A	NM_022893.4(BCL11A):c.386-24278G>A	noncoding	Benign
2	60545969	A	G	A60545969G	BCL11A	NM_022893.4(BCL11A):c.385+2T>C	noncoding	Pathogenic
2	60545986	G	A	G60545986A	BCL11A	NM_022893.4(BCL11A):c.370C>T:p.Gln124Ter	coding	Pathogenic
2	60546093	G	T	G60546093T	BCL11A	NM_022893.4(BCL11A):c.263C>A:p.Ser88Ter	coding	Pathogenic
2	60546158	G	T	G60546158T	BCL11A	NM_022893.4(BCL11A):c.198C>A:p.His66Gln	coding	Pathogenic
2	60546213	C	A	C60546213A	BCL11A	NM_022893.4(BCL11A):c.143G>T:p.Cys48Phe	coding	Pathogenic
2	60546217	T	G	T60546217G	BCL11A	NM_022893.4(BCL11A):c.139A>C:p.Thr47Pro	coding	Pathogenic
2	60546301	C	G	C60546301G	BCL11A	NM_022893.4(BCL11A):c.56-1G>C	coding	Pathogenic
2	60894435	A	G	A60894435G	REL	NM_001291746.2(REL):c.192A>G:p.Thr64=	coding	Benign
2	60921756	C	A	C60921756A	REL	NM_001291746.2(REL):c.992-7C>A	noncoding	Pathogenic
2	60921853	C	G	C60921853G	REL	NM_001291746.2(REL):c.1082C>G:p.Pro361Arg	coding	Benign
2	60921972	A	G	A60921972G	REL	NM_001291746.2(REL):c.1201A>G:p.Thr401Ala	coding	Benign
2	60922403	T	C	T60922403C	REL	NM_001291746.2(REL):c.1632T>C:p.Asn544=	coding	Benign
2	61031555	T	A	T61031555A	PEX13	NM_002618.4(PEX13):c.229T>A:p.Ser77Thr	coding	Benign/Likely_benign
2	61031791	T	G	T61031791G	PEX13	NM_002618.4(PEX13):c.465T>G:p.Tyr155Ter	coding	Pathogenic
2	61031834	C	T	C61031834T	PEX13	NM_002618.4(PEX13):c.508C>T:p.Arg170Ter	coding	Pathogenic
2	61031912	C	T	C61031912T	PEX13	NM_002618.4(PEX13):c.586C>T:p.Gln196Ter	coding	Pathogenic
2	61032000	A	G	A61032000G	PEX13	NM_002618.4(PEX13):c.674A>G:p.Asp225Gly	coding	Benign/Likely_benign
2	61032028	G	A	G61032028A	PEX13	NM_002618.4(PEX13):c.702G>A:p.Trp234Ter	coding	Pathogenic
2	61048495	T	G	T61048495G	PEX13	NM_002618.4(PEX13):c.937T>G:p.Trp313Gly	coding	Pathogenic
2	61048535	T	C	T61048535C	PEX13	NM_002618.4(PEX13):c.977T>C:p.Ile326Thr	coding	Pathogenic
2	61048602	T	C	T61048602C	PEX13	NM_002618.4(PEX13):c.1044T>C:p.Val348=	coding	Benign/Likely_benign
2	61048636	C	G	C61048636G	PEX13	NM_002618.4(PEX13):c.1078C>G:p.Leu360Val	coding	Benign
2	61048648	G	T	G61048648T	PEX13	NM_002618.4(PEX13):c.1090G>T:p.Ala364Ser	coding	Benign
2	61049128	G	A	G61049128A	PEX13	NM_002618.4(PEX13):c.*358G>A	noncoding	Benign
2	61049964	G	A	G61049964A	PEX13	NM_002618.4(PEX13):c.*1194G>A	noncoding	Benign
2	61050422	G	A	G61050422A	PEX13	NM_002618.4(PEX13):c.*1652G>A	noncoding	Benign
2	61050917	A	G	A61050917G	PEX13	NM_002618.4(PEX13):c.*2147A>G	noncoding	Benign
2	61188284	C	G	C61188284G	USP34	NM_014709.4(USP34):c.10459G>C:p.Asp3487His	coding	Benign
2	61283155	A	C	A61283155C	USP34	NM_014709.4(USP34):c.4988T>G:p.Leu1663Arg	coding	Benign
2	61339689	G	A	G61339689A	USP34	NM_014709.4(USP34):c.2501-8C>T	noncoding	Benign
2	61343960	T	G	T61343960G	USP34	NM_014709.4(USP34):c.2355A>C:p.Ser785=	coding	Benign
2	61348277	G	A	G61348277A	USP34	NM_014709.4(USP34):c.1878C>T:p.Asp626=	coding	Benign
2	61349269	T	G	T61349269G	USP34	NM_014709.4(USP34):c.1524A>C:p.Arg508Ser	coding	Benign
2	61484076	C	T	C61484076T	XPO1	NM_003400.4(XPO1):c.2538G>A:p.Thr846=	coding	Benign
2	61488631	G	A	G61488631A	XPO1	NM_003400.4(XPO1):c.2163C>T:p.Tyr721=	coding	Benign
2	61495589	G	T	G61495589T	XPO1	NM_003400.4(XPO1):c.913C>A:p.Arg305=	coding	Benign
2	61496870	T	C	T61496870C	XPO1	NM_003400.4(XPO1):c.888+9A>G	noncoding	Benign
2	61825245	A	G	A61825245G	FAM161A	NM_001201543.2(FAM161A):c.*1210T>C	noncoding	Benign
2	61826144	T	G	T61826144G	FAM161A	NM_001201543.2(FAM161A):c.*311A>C	noncoding	Benign
2	61826155	A	G	A61826155G	FAM161A	NM_001201543.2(FAM161A):c.*300T>C	noncoding	Benign
2	61827151	C	A	C61827151A	FAM161A	NM_001201543.2(FAM161A):c.1959G>T:p.Glu653Asp	coding	Benign
2	61836075	G	A	G61836075A	FAM161A	NM_001201543.2(FAM161A):c.1786C>T:p.Arg596Ter	coding	Pathogenic
2	61838623	G	A	G61838623A	FAM161A	NM_001201543.2(FAM161A):c.1666C>T:p.Gln556Ter	coding	Pathogenic
2	61838634	A	C	A61838634C	FAM161A	NM_001201543.2(FAM161A):c.1655T>G:p.Met552Arg	coding	Benign
2	61838716	C	T	C61838716T	FAM161A	NM_001201543.2(FAM161A):c.1584-11G>A	noncoding	Benign
2	61839437	G	A	G61839437A	FAM161A	NM_001201543.2(FAM161A):c.1567C>T:p.Arg523Ter	coding	Pathogenic
2	61839453	C	T	C61839453T	FAM161A	NM_001201543.2(FAM161A):c.1551G>A:p.Thr517=	coding	Benign
2	61839540	C	T	C61839540T	FAM161A	NM_001201543.2(FAM161A):c.1464G>A:p.Trp488Ter	coding	Pathogenic
2	61839695	T	A	T61839695A	FAM161A	NM_001201543.2(FAM161A):c.1309A>T:p.Arg437Ter	coding	Pathogenic
2	61839710	C	A	C61839710A	FAM161A	NM_001201543.2(FAM161A):c.1294G>T:p.Glu432Ter	coding	Pathogenic
2	61839792	A	G	A61839792G	FAM161A	NM_001201543.2(FAM161A):c.1212T>C:p.Cys404=	coding	Benign
2	61839792	A	T	A61839792T	FAM161A	NM_001201543.2(FAM161A):c.1212T>A:p.Cys404Ter	coding	Pathogenic/Likely_pathogenic
2	61839799	G	C	G61839799C	FAM161A	NM_001201543.2(FAM161A):c.1205C>G:p.Ser402Ter	coding	Pathogenic/Likely_pathogenic
2	61839944	G	A	G61839944A	FAM161A	NM_001201543.2(FAM161A):c.1060C>T:p.Arg354Ter	coding	Pathogenic
2	61840001	G	A	G61840001A	FAM161A	NM_001201543.2(FAM161A):c.1003C>T:p.Arg335Ter	coding	Pathogenic
2	61840061	T	A	T61840061A	FAM161A	NM_001201543.2(FAM161A):c.943A>T:p.Lys315Ter	coding	Pathogenic
2	61840098	T	C	T61840098C	FAM161A	NM_001201543.2(FAM161A):c.906A>G:p.Gln302=	coding	Benign/Likely_benign
2	61840157	G	A	G61840157A	FAM161A	NM_001201543.2(FAM161A):c.847C>T:p.Arg283Ter	coding	Pathogenic/Likely_pathogenic
2	61840298	T	C	T61840298C	FAM161A	NM_001201543.2(FAM161A):c.706A>G:p.Ile236Val	coding	Benign
2	61840319	G	A	G61840319A	FAM161A	NM_001201543.2(FAM161A):c.685C>T:p.Arg229Ter	coding	Pathogenic
2	61840588	G	A	G61840588A	FAM161A	NM_001201543.2(FAM161A):c.423-7C>T	noncoding	Benign/Likely_benign
2	61842165	G	A	G61842165A	FAM161A	NM_001201543.2(FAM161A):c.379C>T:p.Gln127Ter	coding	Pathogenic
2	61842223	T	C	T61842223C	FAM161A	NM_001201543.2(FAM161A):c.321A>G:p.Ile107Met	coding	Benign
2	61842267	C	A	C61842267A	FAM161A	NM_001201543.2(FAM161A):c.277G>T:p.Glu93Ter	coding	Pathogenic
2	61842292	G	A	G61842292A	FAM161A	NM_001201543.2(FAM161A):c.252C>T:p.Asn84=	coding	Benign
2	61853877	A	C	A61853877C	FAM161A	NM_001201543.2(FAM161A):c.165T>G:p.Ala55=	coding	Benign
2	61854082	A	G	A61854082G	FAM161A	NM_032180.2(FAM161A):c.-41T>C	noncoding	Benign
2	62222529	G	A	G62222529A	B3GNT2	NM_006577.6(B3GNT2):c.309G>A:p.Thr103=	coding	Benign
2	62222628	T	A	T62222628A	B3GNT2	NM_006577.6(B3GNT2):c.408T>A:p.Asp136Glu	coding	Benign
2	62222628	T	G	T62222628G	B3GNT2	NM_006577.6(B3GNT2):c.408T>G:p.Asp136Glu	coding	Benign
2	62222781	A	G	A62222781G	B3GNT2	NM_006577.6(B3GNT2):c.561A>G:p.Pro187=	coding	Benign
2	62747391	G	C	G62747391C	EHBP1	NM_001142616.3(EHBP1):c.105-4G>C	noncoding	Benign
2	63053017	A	T	A63053017T	OTX1	NM_014562.4(OTX1):c.27A>T:p.Pro9=	coding	Benign
2	63055927	G	A	G63055927A	OTX1	NM_014562.4(OTX1):c.676G>A:p.Gly226Ser	coding	Benign
2	63121683	T	C	T63121683C	WDPCP	NM_015910.7(WDPCP):c.*323A>G	noncoding	Benign
2	63121811	C	T	C63121811T	WDPCP	NM_015910.7(WDPCP):c.*195G>A	noncoding	Benign
2	63174669	C	A	C63174669A	WDPCP	NM_015910.7(WDPCP):c.2078+1G>T	noncoding	Pathogenic
2	63174685	T	C	T63174685C	WDPCP	NM_015910.7(WDPCP):c.2063A>G:p.Asn688Ser	coding	Benign/Likely_benign
2	63174838	G	A	G63174838A	WDPCP	NM_015910.7(WDPCP):c.1916-6C>T	noncoding	Benign
2	63259294	C	T	C63259294T	WDPCP	NM_015910.7(WDPCP):c.1915+13G>A	noncoding	Benign
2	63404150	C	G	C63404150G	WDPCP	NM_015910.7(WDPCP):c.1333G>C:p.Ala445Pro	coding	Benign/Likely_benign
2	63433768	C	T	C63433768T	WDPCP	NM_015910.7(WDPCP):c.802G>A:p.Gly268Ser	coding	Benign
2	63492933	T	A	T63492933A	WDPCP	NM_015910.7(WDPCP):c.83A>T:p.Asp28Val	coding	Benign/Likely_benign
2	63492941	C	A	C63492941A	WDPCP	NM_015910.7(WDPCP):c.76-1G>T	coding	Pathogenic
2	63492955	A	T	A63492955T	WDPCP	NM_015910.7(WDPCP):c.76-15T>A	noncoding	Benign
2	63588204	G	T	G63588204T	WDPCP	NM_015910.7(WDPCP):c.68C>A:p.Pro23Gln	coding	Benign/Likely_benign
2	63597558	C	T	C63597558T	MDH1	NM_005917.4(MDH1):c.359C>T:p.Ala120Val	coding	Pathogenic
2	63856320	A	G	A63856320G	UGP2	NM_006759.4(UGP2):c.34A>G	coding	Pathogenic
2	63899588	G	A	G63899588A	VPS54	NM_016516.3(VPS54):c.2626-7C>T	noncoding	Benign
2	63933730	G	C	G63933730C	VPS54	NM_016516.3(VPS54):c.1682C>G:p.Ser561Cys	coding	Benign
2	63981790	G	A	G63981790A	VPS54	NM_016516.3(VPS54):c.234C>T:p.Asn78=	coding	Benign
2	64458296	T	C	T64458296C	LGALSL	NM_014181.3(LGALSL):c.387T>C:p.Leu129=	coding	Benign
2	65010728	C	T	C65010728T	SLC1A4	NM_003038.5(SLC1A4):c.765C>T:p.Asn255=	coding	Benign
2	65010729	G	A	G65010729A	SLC1A4	NM_003038.5(SLC1A4):c.766G>A:p.Glu256Lys	coding	Pathogenic
2	65018177	G	A	G65018177A	SLC1A4	NM_003038.5(SLC1A4):c.1141G>A:p.Gly381Arg	coding	Pathogenic
2	65018242	C	T	C65018242T	SLC1A4	NM_003038.5(SLC1A4):c.1206C>T:p.Asn402=	coding	Benign
2	65018668	G	A	G65018668A	SLC1A4	NM_003038.5(SLC1A4):c.1353G>A:p.Val451=	coding	Benign
2	65018673	G	A	G65018673A	SLC1A4	NM_003038.5(SLC1A4):c.1358G>A:p.Trp453Ter	coding	Pathogenic
2	65018680	G	A	G65018680A	SLC1A4	NM_003038.5(SLC1A4):c.1364+1G>A	coding	Pathogenic
2	65020916	C	T	C65020916T	SLC1A4	NM_003038.5(SLC1A4):c.1369C>T:p.Arg457Trp	coding	Pathogenic/Likely_pathogenic
2	65020927	G	A	G65020927A	SLC1A4	NM_003038.5(SLC1A4):c.1380G>A:p.Thr460=	coding	Benign/Likely_benign
2	65020997	A	G	A65020997G	SLC1A4	NM_003038.5(SLC1A4):c.1450A>G:p.Lys484Glu	coding	Benign
2	65021068	G	A	G65021068A	SLC1A4	NM_003038.5(SLC1A4):c.1521G>A:p.Ser507=	coding	Benign
2	65071746	G	A	G65071746A	CEP68	NM_015147.3(CEP68):c.650G>A:p.Arg217His	coding	Benign
2	65072196	T	A	T65072196A	CEP68	NM_015147.3(CEP68):c.1100T>A:p.Phe367Tyr	coding	Benign
2	65072437	G	A	G65072437A	CEP68	NM_015147.3(CEP68):c.1341G>A:p.Ser447=	coding	Benign
2	65072794	C	T	C65072794T	CEP68	NM_015147.3(CEP68):c.1698C>T:p.His566=	coding	Benign
2	65072830	G	A	G65072830A	CEP68	NM_015147.3(CEP68):c.1734G>A:p.Gln578=	coding	Benign
2	65072854	G	A	G65072854A	CEP68	NM_015147.3(CEP68):c.1758G>A:p.Leu586=	coding	Benign
2	65072916	T	C	T65072916C	CEP68	NM_015147.3(CEP68):c.1820T>C:p.Val607Ala	coding	Benign
2	65074413	C	G	C65074413G	CEP68	NM_015147.3(CEP68):c.2007+9C>G	noncoding	Benign
2	65088545	T	C	T65088545C	RAB1A	NM_004161.5(RAB1A):c.566A>G:p.Asn189Ser	coding	Benign
2	65344842	G	A	G65344842A	SPRED2	NM_181784.3(SPRED2):c.81C>T:p.Ser27=	coding	Benign
2	66568725	C	T	C66568725T	MEIS1	NM_002398.3(MEIS1):c.1083C>T:p.Asp361=	coding	Benign
2	67397496	G	T	G67397496T	ETAA1	NM_019002.4(ETAA1):c.48G>T:p.Thr16=	coding	Benign
2	67404446	A	G	A67404446G	ETAA1	NM_019002.4(ETAA1):c.1764A>G:p.Glu588=	coding	Benign
2	67405265	A	G	A67405265G	ETAA1	NM_019002.4(ETAA1):c.2583A>G:p.Pro861=	coding	Benign
2	68047299	T	C	T68047299C	C1D	NM_173177.3(C1D):c.12A>G:p.Glu4=	coding	Benign
2	68158384	G	C	G68158384C	PNO1	NM_020143.4(PNO1):c.212G>C:p.Gly71Ala	coding	Benign
2	68388414	A	C	A68388414C	PLEK	NM_002664.3(PLEK):c.685A>C:p.Asn229His	coding	Benign
2	68813279	T	C	T68813279C	ARHGAP25	NM_001007231.3(ARHGAP25):c.675-8T>C	noncoding	Benign
2	68822390	G	A	G68822390A	ARHGAP25	NM_001007231.3(ARHGAP25):c.1251G>A:p.Ala417=	coding	Benign
2	68822597	G	A	G68822597A	ARHGAP25	NM_001007231.3(ARHGAP25):c.1458G>A:p.Thr486=	coding	Benign
2	68866156	G	T	G68866156T	BMP10	NM_014482.3(BMP10):c.750C>A:p.Asn250Lys	coding	Benign
2	68952842	A	G	A68952842G	GKN2	NM_182536.3(GKN2):c.12+8T>C	noncoding	Benign
2	68980063	G	A	G68980063A	GKN1	NM_019617.4(GKN1):c.463+3G>A	noncoding	Benign
2	69044779	C	T	C69044779T	ANTXR1	NM_018153.3(ANTXR1):c.262C>T:p.Arg88Ter	coding	Pathogenic
2	69181897	C	A	C69181897A	ANTXR1	NM_032208.2(ANTXR1):c.1185+16C>A	noncoding	Benign
2	69245213	A	G	A69245213G	ANTXR1	NM_032208.2(ANTXR1):c.1435-12A>G	noncoding	Pathogenic
2	69319823	A	G	A69319823G	GFPT1	NM_002056.4(GFPT1):c.*6366T>C	noncoding	Benign
2	69320095	G	A	G69320095A	GFPT1	NM_002056.4(GFPT1):c.*6094C>T	noncoding	Benign
2	69320104	G	C	G69320104C	GFPT1	NM_002056.4(GFPT1):c.*6085C>G	noncoding	Benign
2	69321188	C	T	C69321188T	GFPT1	NM_002056.4(GFPT1):c.*5001G>A	noncoding	Benign
2	69321363	T	G	T69321363G	GFPT1	NM_002056.4(GFPT1):c.*4826A>C	noncoding	Benign
2	69321459	C	T	C69321459T	GFPT1	NM_002056.4(GFPT1):c.*4730G>A	noncoding	Benign
2	69321786	C	A	C69321786A	GFPT1	NM_001244710.2(GFPT1):c.*4403G>T	noncoding	Benign
2	69322130	T	C	T69322130C	GFPT1	NM_002056.4(GFPT1):c.*4059A>G	noncoding	Benign
2	69322136	A	T	A69322136T	GFPT1	NM_002056.4(GFPT1):c.*4053T>A	noncoding	Benign
2	69322408	C	A	C69322408A	GFPT1	NM_002056.4(GFPT1):c.*3781G>T	noncoding	Benign
2	69322844	G	A	G69322844A	GFPT1	NM_002056.4(GFPT1):c.*3345C>T	noncoding	Benign
2	69322904	T	C	T69322904C	GFPT1	NM_002056.4(GFPT1):c.*3285A>G	noncoding	Benign
2	69323098	T	G	T69323098G	GFPT1	NM_002056.4(GFPT1):c.*3091A>C	noncoding	Benign
2	69323124	C	T	C69323124T	GFPT1	NM_002056.4(GFPT1):c.*3065G>A	noncoding	Benign
2	69323282	G	A	G69323282A	GFPT1	NM_001244710.2(GFPT1):c.*2907C>T	noncoding	Benign
2	69323504	T	C	T69323504C	GFPT1	NM_002056.4(GFPT1):c.*2685A>G	noncoding	Benign
2	69324945	C	A	C69324945A	GFPT1	NM_002056.4(GFPT1):c.*1244G>T	noncoding	Benign
2	69325104	T	C	T69325104C	GFPT1	NM_002056.4(GFPT1):c.*1085A>G	noncoding	Benign
2	69325319	G	T	G69325319T	GFPT1	NM_002056.4(GFPT1):c.*870C>A	noncoding	Benign
2	69325389	C	A	C69325389A	GFPT1	NM_002056.4(GFPT1):c.*800G>T	noncoding	Benign
2	69325586	C	T	C69325586T	GFPT1	NM_002056.4(GFPT1):c.*603G>A	noncoding	Benign
2	69329012	A	C	A69329012C	GFPT1	NM_002056.4(GFPT1):c.1671+285T>G	noncoding	Benign
2	69338213	T	C	T69338213C	GFPT1	NM_002056.4(GFPT1):c.1271-158A>G	noncoding	Benign
2	69345897	T	C	T69345897C	GFPT1	NM_001244710.1(GFPT1):c.1105+7A>G	noncoding	Benign
2	69345913	C	A	C69345913A	GFPT1	NM_002056.4(GFPT1):c.1042G>T:p.Asp348Tyr	coding	Pathogenic
2	69346141	T	C	T69346141C	GFPT1	NM_002056.4(GFPT1):c.956-142A>G	noncoding	Benign
2	69348198	G	A	G69348198A	GFPT1	NM_002056.4(GFPT1):c.928C>T:p.Gln310Ter	coding	Pathogenic
2	69348216	G	A	G69348216A	GFPT1	NM_001244710.2(GFPT1):c.964C>T:p.Arg322Ter	coding	Pathogenic
2	69354279	C	T	C69354279T	GFPT1	NM_002056.4(GFPT1):c.685+210G>A	coding	Pathogenic
2	69354314	T	C	T69354314C	GFPT1	NM_001244710.1(GFPT1):c.686-2A>G	noncoding	Pathogenic
2	69354499	G	A	G69354499A	GFPT1	NM_001244710.1(GFPT1):c.675C>T:p.Leu225=	coding	Benign
2	69356290	G	A	G69356290A	GFPT1	NM_002056.4(GFPT1):c.605+206C>T	noncoding	Benign
2	69356552	A	G	A69356552G	GFPT1	NM_001244710.1(GFPT1):c.549T>C:p.Gly183=	coding	Benign/Likely_benign
2	69358044	A	G	A69358044G	GFPT1	NM_002056.4(GFPT1):c.543+285T>C	noncoding	Benign
2	69358420	G	T	G69358420T	GFPT1	NM_002056.4(GFPT1):c.452C>A:p.Thr151Lys	coding	Pathogenic
2	69358778	C	A	C69358778A	GFPT1	NM_002056.4(GFPT1):c.409-315G>T	noncoding	Benign
2	69359161	A	C	A69359161C	GFPT1	NM_002056.4(GFPT1):c.408+107T>G	noncoding	Benign
2	69359238	A	G	A69359238G	GFPT1	NM_002056.4(GFPT1):c.408+30T>C	noncoding	Benign
2	69359261	T	A	T69359261A	GFPT1	NM_002056.4(GFPT1):c.408+7A>T	noncoding	Benign
2	69363563	G	A	G69363563A	GFPT1	NM_002056.4(GFPT1):c.331C>T:p.Arg111Cys	coding	Pathogenic/Likely_pathogenic
2	69369996	G	A	G69369996A	GFPT1	NM_002056.4(GFPT1):c.223+5C>T	noncoding	Benign/Likely_benign
2	69370077	A	G	A69370077G	GFPT1	NM_001244710.1(GFPT1):c.147T>C:p.Asp49=	coding	Benign
2	69370120	T	C	T69370120C	GFPT1	NM_002056.4(GFPT1):c.116-12A>G	noncoding	Benign/Likely_benign
2	69374078	T	C	T69374078C	GFPT1	NM_002056.4(GFPT1):c.43A>G:p.Thr15Ala	coding	Pathogenic
2	69374080	C	A	C69374080A	GFPT1	NM_002056.4(GFPT1):c.41G>T:p.Arg14Leu	coding	Pathogenic
2	69374370	G	A	G69374370A	GFPT1	NM_002056.4(GFPT1):c.8-257C>T	noncoding	Benign
2	69386794	T	C	T69386794C	GFPT1	NM_002056.4(GFPT1):c.7+271A>G	noncoding	Benign
2	69386826	A	G	A69386826G	GFPT1	NM_002056.4(GFPT1):c.7+239T>C	noncoding	Benign
2	69387029	A	G	A69387029G	GFPT1	NM_002056.4(GFPT1):c.7+36T>C	noncoding	Benign
2	69400462	C	A	C69400462A	NFU1	NM_001002755.4(NFU1):c.622G>T:p.Gly208Cys	coding	Pathogenic
2	69400787	G	A	G69400787A	NFU1	NM_001002755.3(NFU1):c.546-249C>T	noncoding	Benign
2	69406017	C	T	C69406017T	NFU1	NM_015700.4(NFU1):c.473+5G>A	noncoding	Pathogenic
2	69406023	G	A	G69406023A	NFU1	NM_001002755.4(NFU1):c.544C>T:p.Arg182Trp	coding	Pathogenic
2	69406250	A	T	A69406250T	NFU1	NM_001002755.3(NFU1):c.485-168T>A	noncoding	Benign
2	69415258	A	G	A69415258G	NFU1	NM_001002755.4(NFU1):c.411T>C:p.Ile137=	coding	Benign
2	69415483	G	A	G69415483A	NFU1	NM_001002755.3(NFU1):c.370-184C>T	noncoding	Benign
2	69419606	T	A	T69419606A	NFU1	NM_001002755.3(NFU1):c.303-2A>T	noncoding	Pathogenic
2	69419818	C	T	C69419818T	NFU1	NM_001002755.3(NFU1):c.303-214G>A	noncoding	Benign
2	69423598	G	A	G69423598A	NFU1	NM_001002755.3(NFU1):c.286C>T:p.Arg96Cys	coding	Benign
2	69431917	C	A	C69431917A	NFU1	NM_001002755.4(NFU1):c.151G>T:p.Ala51Ser	coding	Benign
2	69431994	A	T	A69431994T	NFU1	NM_001002755.4(NFU1):c.74T>A:p.Met25Lys	coding	Benign
2	69432270	T	A	T69432270A	NFU1	NM_001002755.3(NFU1):c.63-265A>T	noncoding	Benign
2	69437281	A	G	A69437281G	NFU1	NM_001002755.3(NFU1):c.62+80T>C	coding	Benign
2	69437352	G	A	G69437352A	NFU1	NM_001002755.3(NFU1):c.62+9C>T	coding	Benign
2	69437428	T	C	T69437428C	NFU1	NM_001002755.4(NFU1):c.-6A>G	noncoding	Benign
2	69437588	A	G	A69437588G	NFU1	NM_001002756.2(NFU1):c.-543T>C	noncoding	Benign
2	69437789	A	T	A69437789T	NFU1	NM_001374284.1(NFU1):c.-11+264T>A	noncoding	Benign
2	69437844	C	T	C69437844T	NFU1	NM_001374284.1(NFU1):c.-11+209G>A	noncoding	Benign
2	69437880	C	G	C69437880G	NFU1	NM_001374284.1(NFU1):c.-11+173G>C	noncoding	Benign
2	69507428	A	C	A69507428C	AAK1	NM_014911.4(AAK1):c.2157T>G:p.Leu719=	coding	Benign
2	69507504	G	A	G69507504A	AAK1	NM_014911.4(AAK1):c.2081C>T:p.Thr694Met	coding	Benign
2	69812682	C	T	C69812682T	ANXA4	NM_001153.5(ANXA4):c.507C>T:p.Asp169=	coding	Benign
2	69818669	C	T	C69818669T	ANXA4	NM_001153.5(ANXA4):c.699C>T:p.Ser233=	coding	Benign
2	69844206	T	C	T69844206C	GMCL1	NM_178439.5(GMCL1):c.758+10T>C	noncoding	Benign
2	69869846	G	A	G69869846A	GMCL1	NM_178439.5(GMCL1):c.1346G>A:p.Arg449Gln	coding	Benign
2	69960749	G	T	G69960749T	ASPRV1	NM_152792.2(ASPRV1):c.940C>A:p.Pro314Thr	coding	Pathogenic
2	69960757	C	G	C69960757G	ASPRV1	NM_152792.2(ASPRV1):c.932G>C:p.Arg311Pro	coding	Pathogenic
2	69961094	T	C	T69961094C	ASPRV1	NM_152792.2(ASPRV1):c.595A>G:p.Lys199Glu	coding	Pathogenic
2	70212730	C	T	C70212730T	TIA1	NM_022173.4(TIA1):c.1150G>A:p.Glu384Lys	coding	Pathogenic
2	70212758	C	T	C70212758T	TIA1	NM_022173.4(TIA1):c.1122G>A:p.Gln374=	coding	Benign
2	70212779	A	G	A70212779G	TIA1	NM_022173.4(TIA1):c.1101T>C:p.Asn367=	coding	Benign
2	70212794	C	T	C70212794T	TIA1	NM_022173.4(TIA1):c.1086G>A:p.Pro362=	coding	Benign
2	70214405	A	G	A70214405G	TIA1	NM_022173.4(TIA1):c.978T>C:p.Gly326=	coding	Benign
2	70214430	T	C	T70214430C	TIA1	NM_022173.4(TIA1):c.953A>G:p.Gln318Arg	coding	Benign/Likely_benign
2	70214436	G	C	G70214436C	TIA1	NM_022173.4(TIA1):c.947C>G:p.Ala316Gly	coding	Benign
2	70214459	C	T	C70214459T	TIA1	NM_022173.4(TIA1):c.924G>A:p.Gln308=	coding	Benign
2	70236127	T	C	T70236127C	TIA1	NM_022173.4(TIA1):c.75A>G:p.Gln25=	coding	Benign
2	70236172	G	A	G70236172A	TIA1	NM_022173.4(TIA1):c.30C>T:p.Tyr10=	coding	Benign
2	70277267	A	G	A70277267G	PCYOX1	NM_016297.4(PCYOX1):c.1393A>G:p.Ser465Gly	coding	Benign
2	70300842	G	A	G70300842A	FAM136A	NM_001329752.2(FAM136A):c.547C>T:p.Gln183Ter	coding	Pathogenic
2	70301940	G	A	G70301940A	FAM136A	NM_001329752.2(FAM136A):c.72C>T:p.Asn24=	coding	Benign
2	70456379	C	T	C70456379T	TGFA	NM_003236.4(TGFA):c.325G>A:p.Val109Met	coding	Benign
2	70456428	A	G	A70456428G	TGFA	NM_003236.4(TGFA):c.276T>C:p.Ala92=	coding	Benign
2	70514890	C	T	C70514890T	TGFA	NM_003236.4(TGFA):c.63G>A:p.Gln21=	coding	Benign
2	70514916	T	C	T70514916C	TGFA	NM_003236.4(TGFA):c.41-4A>G	noncoding	Benign
2	70683711	C	A	C70683711A	ADD2	NM_001617.4(ADD2):c.1005G>T:p.Glu335Asp	coding	Benign
2	70706327	C	T	C70706327T	ADD2	NM_001617.4(ADD2):c.82G>A:p.Asp28Asn	coding	Benign
2	70706359	C	T	C70706359T	ADD2	NM_001617.4(ADD2):c.50G>A:p.Gly17Glu	coding	Benign
2	70777314	T	G	T70777314G	FIGLA	NM_001004311.3(FIGLA):c.*53A>C	noncoding	Benign
2	70777360	T	C	T70777360C	FIGLA	NM_001004311.3(FIGLA):c.*7A>G	noncoding	Benign
2	70777362	A	T	A70777362T	FIGLA	NM_001004311.3(FIGLA):c.*5T>A	noncoding	Benign
2	70777656	C	T	C70777656T	FIGLA	NM_001004311.3(FIGLA):c.625G>A:p.Val209Ile	coding	Benign
2	70785472	G	A	G70785472A	FIGLA	NM_001004311.3(FIGLA):c.552C>T:p.His184=	coding	Benign
2	70785602	C	G	C70785602G	FIGLA	NM_001004311.3(FIGLA):c.422G>C:p.Ser141Thr	coding	Benign
2	70787799	T	A	T70787799A	FIGLA	NM_001004311.3(FIGLA):c.234A>T:p.Ile78=	coding	Benign
2	70790393	C	T	C70790393T	FIGLA	NM_001004311.3(FIGLA):c.231+15G>A	noncoding	Benign
2	70790555	G	T	G70790555T	FIGLA	NM_001004311.3(FIGLA):c.84C>A:p.Asp28Glu	coding	Benign
2	70790637	A	G	A70790637G	FIGLA	NM_001004311.3(FIGLA):c.2T>C:p.Met1Thr	coding	Pathogenic
2	70809799	C	T	C70809799T	CLEC4F	NM_173535.3(CLEC4F):c.1598G>A:p.Gly533Asp	coding	Benign
2	70816275	A	G	A70816275G	CLEC4F	NM_173535.3(CLEC4F):c.1106T>C:p.Val369Ala	coding	Benign
2	70816677	G	A	G70816677A	CLEC4F	NM_173535.3(CLEC4F):c.704C>T:p.Thr235Met	coding	Benign
2	70816944	T	C	T70816944C	CLEC4F	NM_173535.3(CLEC4F):c.437A>G:p.Asn146Ser	coding	Benign
2	70831747	A	G	A70831747G	CD207	NM_015717.5(CD207):c.790T>C:p.Trp264Arg	coding	Pathogenic
2	70834014	C	T	C70834014T	CD207	NM_015717.5(CD207):c.197G>A:p.Arg66Gln	coding	Benign
2	70900691	C	G	C70900691G	VAX2	NM_012476.3(VAX2):c.70C>G:p.Arg24Gly	coding	Benign
2	70935866	A	G	A70935866G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.-89A>G	noncoding	Benign
2	70935921	C	T	C70935921T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.-34C>T	noncoding	Benign
2	70935956	T	C	T70935956C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.2T>C:p.Met1Thr	coding	Benign
2	70935981	T	C	T70935981C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.27T>C:p.Pro9=	coding	Benign
2	70935994	G	A	G70935994A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.40G>A:p.Gly14Ser	coding	Benign/Likely_benign
2	70936043	C	T	C70936043T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.89C>T:p.Thr30Ile	coding	Benign
2	70936045	C	T	C70936045T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.91C>T:p.Arg31Ter	coding	Pathogenic
2	70943677	C	T	C70943677T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.138C>T:p.Ser46=	coding	Benign
2	70943683	C	T	C70943683T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.144C>T:p.Asn48=	coding	Benign/Likely_benign
2	70957956	A	C	A70957956C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.175-90A>C	noncoding	Benign
2	70958045	G	C	G70958045C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.175-1G>C	noncoding	Pathogenic
2	70958103	G	A	G70958103A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.232G>A:p.Gly78Arg	coding	Pathogenic
2	70958106	C	T	C70958106T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.235C>T:p.Gln79Ter	coding	Pathogenic
2	70958113	T	C	T70958113C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.242T>C:p.Leu81Pro	coding	Pathogenic/Likely_pathogenic
2	70958399	C	T	C70958399T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.340C>T:p.Arg114Ter	coding	Pathogenic
2	70959962	C	T	C70959962T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.469C>T:p.Arg157Cys	coding	Pathogenic
2	70959974	G	A	G70959974A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.481G>A:p.Glu161Lys	coding	Benign
2	70960079	G	A	G70960079A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.585+1G>A	coding	Pathogenic
2	70960942	C	T	C70960942T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.607C>T:p.Gln203Ter	coding	Pathogenic
2	70960989	C	T	C70960989T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.654C>T:p.Asp218=	coding	Benign
2	70961694	G	A	G70961694A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.785+1G>A	coding	Pathogenic
2	70961703	C	T	C70961703T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.785+10C>T	noncoding	Benign/Likely_benign
2	70962727	T	C	T70962727C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.786-50T>C	noncoding	Benign
2	70962921	T	C	T70962921C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.909+21T>C	noncoding	Benign
2	70963195	C	T	C70963195T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.943C>T:p.Arg315Ter	coding	Pathogenic/Likely_pathogenic
2	70963254	C	T	C70963254T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1002C>T:p.Arg334=	coding	Benign
2	70963275	C	T	C70963275T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1023C>T:p.Ser341=	coding	Benign/Likely_benign
2	70963289	C	G	C70963289G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1037C>G:p.Pro346Arg	coding	Pathogenic
2	70964543	G	C	G70964543C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1248+1G>C	coding	Pathogenic
2	70964551	A	G	A70964551G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1248+9A>G	noncoding	Benign
2	70964738	C	G	C70964738G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1251C>G:p.Tyr417Ter	coding	Pathogenic
2	70964807	T	G	T70964807G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1320T>G:p.Ser440=	coding	Benign
2	70964965	C	G	C70964965G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1386C>G:p.Tyr462Ter	coding	Pathogenic/Likely_pathogenic
2	70965127	C	A	C70965127A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.*6C>A	noncoding	Benign/Likely_benign
2	70965133	G	A	G70965133A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.*12G>A	noncoding	Benign
2	70965189	C	T	C70965189T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.*68C>T	noncoding	Benign
2	70965201	C	T	C70965201T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.*80C>T	noncoding	Benign
2	71109708	C	T	C71109708T	MCEE	NM_032601.4(MCEE):c.*262G>A	noncoding	Benign
2	71110073	C	T	C71110073T	MCEE	NM_032601.4(MCEE):c.428G>A:p.Arg143His	coding	Benign
2	71124273	C	A	C71124273A	MCEE	NM_032601.4(MCEE):c.311G>T:p.Arg104Leu	coding	Benign
2	71124357	G	A	G71124357A	MCEE	NM_032601.4(MCEE):c.227C>T:p.Ala76Val	coding	Benign
2	71124445	G	A	G71124445A	MCEE	NM_032601.4(MCEE):c.139C>T:p.Arg47Ter	coding	Pathogenic
2	71124464	A	G	A71124464G	MCEE	NM_032601.4(MCEE):c.120T>C:p.Gly40=	coding	Benign/Likely_benign
2	71132930	C	A	C71132930A	MPHOSPH10	NM_005791.3(MPHOSPH10):c.122C>A:p.Ser41Tyr	coding	Benign
2	71133226	G	A	G71133226A	MPHOSPH10	NM_005791.3(MPHOSPH10):c.418G>A:p.Asp140Asn	coding	Benign
2	71133269	A	G	A71133269G	MPHOSPH10	NM_005791.3(MPHOSPH10):c.461A>G:p.Asn154Ser	coding	Benign
2	71133527	T	C	T71133527C	MPHOSPH10	NM_005791.3(MPHOSPH10):c.719T>C:p.Ile240Thr	coding	Benign
2	71426555	G	A	G71426555A	ZNF638	NM_014497.5(ZNF638):c.4686G>A:p.Lys1562=	coding	Benign
2	71426990	T	C	T71426990C	ZNF638	NM_014497.5(ZNF638):c.5121T>C:p.Thr1707=	coding	Benign
2	71453502	T	C	T71453502C	DYSF	NC_000002.12:g.71453502T>C	noncoding	Benign
2	71453820	C	A	C71453820A	DYSF	NM_003494.4(DYSF):c.-179C>A	noncoding	Benign
2	71453965	G	T	G71453965T	DYSF	NM_003494.4(DYSF):c.-34G>T	noncoding	Benign
2	71466523	C	T	C71466523T	DYSF	NM_003494.4(DYSF):c.88+12437C>T	noncoding	Benign
2	71466573	C	A	C71466573A	DYSF	NM_003494.4(DYSF):c.88+12487C>A	noncoding	Benign
2	71466675	T	C	T71466675C	DYSF	NM_003494.4(DYSF):c.88+12589T>C	noncoding	Benign
2	71466715	G	A	G71466715A	DYSF	NM_001130987.2(DYSF):c.-128G>A	coding	Benign
2	71466813	G	A	G71466813A	DYSF	NM_001130987.2(DYSF):c.-30G>A	coding	Benign
2	71467213	A	G	A71467213G	DYSF	NM_001130987.2(DYSF):c.91+280A>G	noncoding	Benign
2	71480939	G	A	G71480939A	DYSF	NM_001130987.2(DYSF):c.147+1G>A	coding	Pathogenic
2	71481602	T	C	T71481602C	DYSF	NM_001130987.2(DYSF):c.148-277T>C	noncoding	Benign
2	71481878	G	A	G71481878A	DYSF	NM_001130987.2(DYSF):c.148-1G>A	noncoding	Pathogenic
2	71481890	G	A	G71481890A	DYSF	NM_001130987.2(DYSF):c.159G>A:p.Trp53Ter	coding	Pathogenic
2	71481990	G	A	G71481990A	DYSF	NM_001130987.2(DYSF):c.239+20G>A	noncoding	Benign
2	71482001	C	G	C71482001G	DYSF	NM_001130987.2(DYSF):c.239+31C>G	noncoding	Benign
2	71502925	G	A	G71502925A	DYSF	NM_001130987.2(DYSF):c.240-289G>A	noncoding	Benign
2	71503242	C	T	C71503242T	DYSF	NM_001130987.2(DYSF):c.268C>T:p.Arg90Ter	coding	Pathogenic
2	71503308	C	T	C71503308T	DYSF	NM_001130987.2(DYSF):c.334C>T:p.Gln112Ter	coding	Pathogenic
2	71511822	C	T	C71511822T	DYSF	NM_001130987.2(DYSF):c.361C>T:p.Gln121Ter	coding	Pathogenic
2	71511857	C	T	C71511857T	DYSF	NM_001130987.2(DYSF):c.396C>T:p.Pro132=	coding	Benign/Likely_benign
2	71511890	C	T	C71511890T	DYSF	NM_001130987.2(DYSF):c.429C>T:p.Ser143=	coding	Benign/Likely_benign
2	71511923	T	G	T71511923G	DYSF	NM_001130987.2(DYSF):c.460+2T>G	noncoding	Benign
2	71511938	G	C	G71511938C	DYSF	NM_001130987.2(DYSF):c.460+17G>C	noncoding	Benign
2	71512071	A	G	A71512071G	DYSF	NM_001130987.2(DYSF):c.460+150A>G	noncoding	Benign
2	71512143	G	A	G71512143A	DYSF	NM_001130987.2(DYSF):c.460+222G>A	noncoding	Benign
2	71512164	G	A	G71512164A	DYSF	NM_001130987.2(DYSF):c.460+243G>A	noncoding	Benign
2	71513784	C	T	C71513784T	DYSF	NM_001130987.2(DYSF):c.622C>T:p.Gln208Ter	coding	Pathogenic
2	71513823	C	G	C71513823G	DYSF	NM_001130987.2(DYSF):c.661C>G:p.Leu221Val	coding	Benign/Likely_benign
2	71513828	T	C	T71513828C	DYSF	NM_001130987.2(DYSF):c.666T>C:p.Pro222=	coding	Benign/Likely_benign
2	71513868	C	T	C71513868T	DYSF	NM_001130987.2(DYSF):c.706C>T:p.Arg236Ter	coding	Pathogenic
2	71513919	C	T	C71513919T	DYSF	NM_001130987.2(DYSF):c.757C>T:p.Gln253Ter	coding	Pathogenic
2	71513922	G	C	G71513922C	DYSF	NM_001130987.2(DYSF):c.759+1G>C	coding	Pathogenic
2	71514127	G	C	G71514127C	DYSF	NM_001130987.2(DYSF):c.759+206G>C	noncoding	Benign
2	71515606	C	T	C71515606T	DYSF	NM_001130987.2(DYSF):c.760-17C>T	noncoding	Benign
2	71515714	C	T	C71515714T	DYSF	NM_001130987.2(DYSF):c.851C>T:p.Thr284Met	coding	Pathogenic/Likely_pathogenic
2	71515749	G	T	G71515749T	DYSF	NM_001130987.2(DYSF):c.886G>T:p.Glu296Ter	coding	Pathogenic
2	71515753	T	A	T71515753A	DYSF	NM_001130987.2(DYSF):c.888+2T>A	noncoding	Pathogenic
2	71515762	T	C	T71515762C	DYSF	NM_001130987.2(DYSF):c.888+11T>C	noncoding	Benign/Likely_benign
2	71515848	T	C	T71515848C	DYSF	NM_001130987.2(DYSF):c.888+97T>C	noncoding	Benign
2	71516076	G	A	G71516076A	DYSF	NM_001130987.2(DYSF):c.889-104G>A	noncoding	Benign
2	71516112	G	A	G71516112A	DYSF	NM_001130987.2(DYSF):c.889-68G>A	noncoding	Benign
2	71516178	A	G	A71516178G	DYSF	NM_001130987.2(DYSF):c.889-2A>G	noncoding	Pathogenic
2	71516244	T	G	T71516244G	DYSF	NM_001130987.2(DYSF):c.951+2T>G	noncoding	Pathogenic
2	71516246	T	C	T71516246C	DYSF	NM_001130987.2(DYSF):c.951+4T>C	noncoding	Benign/Likely_benign
2	71516281	T	C	T71516281C	DYSF	NM_001130987.2(DYSF):c.951+39T>C	noncoding	Benign/Likely_benign
2	71516324	A	G	A71516324G	DYSF	NM_001130987.2(DYSF):c.951+82A>G	noncoding	Benign
2	71516325	C	T	C71516325T	DYSF	NM_001130987.2(DYSF):c.951+83C>T	noncoding	Benign
2	71516510	T	C	T71516510C	DYSF	NM_001130987.2(DYSF):c.951+268T>C	noncoding	Benign
2	71516854	C	T	C71516854T	DYSF	NM_001130987.2(DYSF):c.952-135C>T	noncoding	Benign
2	71516996	A	T	A71516996T	DYSF	NM_001130987.2(DYSF):c.959A>T:p.Asp320Val	coding	Pathogenic/Likely_pathogenic
2	71517028	G	A	G71517028A	DYSF	NM_001130987.2(DYSF):c.991G>A:p.Gly331Arg	coding	Pathogenic
2	71517028	G	C	G71517028C	DYSF	NM_001130987.2(DYSF):c.991G>C:p.Gly331Arg	coding	Pathogenic
2	71517028	G	T	G71517028T	DYSF	NM_001130987.2(DYSF):c.991G>T:p.Gly331Trp	coding	Pathogenic
2	71517255	C	T	C71517255T	DYSF	NM_001130987.2(DYSF):c.1002+216C>T	noncoding	Benign
2	71520105	A	G	A71520105G	DYSF	NM_001130987.2(DYSF):c.1003-73A>G	noncoding	Benign
2	71520209	G	A	G71520209A	DYSF	NM_001130987.2(DYSF):c.1033+1G>A	coding	Pathogenic
2	71520210	T	C	T71520210C	DYSF	NM_001130987.2(DYSF):c.1033+2T>C	noncoding	Pathogenic
2	71520302	G	T	G71520302T	DYSF	NM_001130987.2(DYSF):c.1033+94G>T	noncoding	Benign
2	71520438	G	T	G71520438T	DYSF	NM_001130987.2(DYSF):c.1033+230G>T	noncoding	Benign
2	71520593	C	G	C71520593G	DYSF	NM_001130987.2(DYSF):c.1034-196C>G	noncoding	Benign
2	71520721	T	C	T71520721C	DYSF	NM_001130987.2(DYSF):c.1034-68T>C	noncoding	Benign
2	71520725	C	T	C71520725T	DYSF	NM_001130987.2(DYSF):c.1034-64C>T	noncoding	Benign
2	71520769	G	A	G71520769A	DYSF	NM_001130987.2(DYSF):c.1034-20G>A	noncoding	Benign
2	71520793	C	T	C71520793T	DYSF	NM_001130987.2(DYSF):c.1038C>T:p.His346=	coding	Benign/Likely_benign
2	71520816	T	C	T71520816C	DYSF	NM_001130987.2(DYSF):c.1061T>C:p.Leu354Pro	coding	Pathogenic/Likely_pathogenic
2	71520871	C	A	C71520871A	DYSF	NM_001130987.2(DYSF):c.1116C>A:p.Ser372Arg	coding	Pathogenic/Likely_pathogenic
2	71520900	C	T	C71520900T	DYSF	NM_001130987.2(DYSF):c.1145C>T:p.Ala382Val	coding	Benign/Likely_benign
2	71520905	G	A	G71520905A	DYSF	NM_001130987.2(DYSF):c.1149+1G>A	coding	Pathogenic/Likely_pathogenic
2	71520907	G	C	G71520907C	DYSF	NM_001130987.2(DYSF):c.1149+3G>C	noncoding	Pathogenic
2	71520909	G	A	G71520909A	DYSF	NM_001130987.2(DYSF):c.1149+5G>A	noncoding	Pathogenic
2	71520958	C	T	C71520958T	DYSF	NM_001130987.2(DYSF):c.1149+54C>T	noncoding	Benign
2	71526295	C	T	C71526295T	DYSF	NM_001130987.2(DYSF):c.1225C>T:p.Arg409Ter	coding	Pathogenic/Likely_pathogenic
2	71526331	G	A	G71526331A	DYSF	NM_001130987.2(DYSF):c.1261G>A:p.Glu421Lys	coding	Pathogenic
2	71526334	G	A	G71526334A	DYSF	NM_001130987.2(DYSF):c.1264G>A:p.Asp422Asn	coding	Pathogenic/Likely_pathogenic
2	71526343	C	T	C71526343T	DYSF	NM_001130987.2(DYSF):c.1273C>T:p.Gln425Ter	coding	Pathogenic
2	71526357	C	T	C71526357T	DYSF	NM_001130987.2(DYSF):c.1276+11C>T	noncoding	Benign/Likely_benign
2	71528250	A	G	A71528250G	DYSF	NM_001130987.2(DYSF):c.1277-48A>G	noncoding	Benign
2	71528309	G	A	G71528309A	DYSF	NM_001130987.2(DYSF):c.1288G>A:p.Val430Met	coding	Benign/Likely_benign
2	71528403	T	C	T71528403C	DYSF	NM_001130987.2(DYSF):c.1380+2T>C	noncoding	Pathogenic
2	71528537	C	T	C71528537T	DYSF	NM_001130987.2(DYSF):c.1380+136C>T	noncoding	Benign
2	71535019	A	G	A71535019G	DYSF	NM_001130987.2(DYSF):c.1381-2A>G	noncoding	Pathogenic
2	71535090	G	A	G71535090A	DYSF	NM_001130987.2(DYSF):c.1449+1G>A	coding	Pathogenic
2	71535102	C	T	C71535102T	DYSF	NM_001130987.2(DYSF):c.1449+13C>T	noncoding	Benign
2	71535180	A	G	A71535180G	DYSF	NM_001130987.2(DYSF):c.1450-88A>G	noncoding	Benign
2	71535282	C	A	C71535282A	DYSF	NM_001130987.2(DYSF):c.1464C>A:p.Cys488Ter	coding	Pathogenic
2	71535311	G	A	G71535311A	DYSF	NM_001130987.2(DYSF):c.1493G>A:p.Trp498Ter	coding	Pathogenic
2	71538994	G	T	G71538994T	DYSF	NM_001130987.2(DYSF):c.1494-163G>T	noncoding	Benign
2	71539155	A	G	A71539155G	DYSF	NM_001130987.2(DYSF):c.1494-2A>G	noncoding	Pathogenic
2	71539156	G	A	G71539156A	DYSF	NM_001130987.2(DYSF):c.1494-1G>A	noncoding	Pathogenic/Likely_pathogenic
2	71539181	C	T	C71539181T	DYSF	NM_001130987.2(DYSF):c.1518C>T:p.Ile506=	coding	Benign
2	71539230	G	T	G71539230T	DYSF	NM_001130987.2(DYSF):c.1567G>T:p.Glu523Ter	coding	Pathogenic
2	71539239	G	T	G71539239T	DYSF	NM_001130987.2(DYSF):c.1576G>T:p.Val526Leu	coding	Pathogenic
2	71539240	G	A	G71539240A	DYSF	NM_001130987.2(DYSF):c.1576+1G>A	coding	Pathogenic
2	71539357	G	A	G71539357A	DYSF	NM_001130987.2(DYSF):c.1576+118G>A	noncoding	Benign
2	71539492	T	A	T71539492A	DYSF	NM_001130987.2(DYSF):c.1576+253T>A	noncoding	Benign
2	71549215	C	T	C71549215T	DYSF	NM_001130987.2(DYSF):c.1577-1826C>T	noncoding	Benign
2	71549216	A	G	A71549216G	DYSF	NM_001130987.2(DYSF):c.1577-1825A>G	noncoding	Benign
2	71549349	G	A	G71549349A	DYSF	NM_001130987.2(DYSF):c.1577-1692G>A	noncoding	Pathogenic
2	71549386	C	G	C71549386G	DYSF	NM_001130987.2(DYSF):c.1577-1655C>G	coding	Pathogenic
2	71549406	C	G	C71549406G	DYSF	NM_001130987.2(DYSF):c.1577-1635C>G	noncoding	Benign/Likely_benign
2	71550938	G	A	G71550938A	DYSF	NM_001130987.2(DYSF):c.1577-103G>A	noncoding	Benign
2	71551039	A	G	A71551039G	DYSF	NM_001130987.2(DYSF):c.1577-2A>G	noncoding	Pathogenic
2	71551040	G	A	G71551040A	DYSF	NM_001130987.2(DYSF):c.1577-1G>A	noncoding	Pathogenic
2	71551090	C	T	C71551090T	DYSF	NM_001130987.2(DYSF):c.1626C>T:p.Asn542=	coding	Benign/Likely_benign
2	71551158	T	A	T71551158A	DYSF	NM_001130987.2(DYSF):c.1692+2T>A	noncoding	Pathogenic
2	71551545	C	T	C71551545T	DYSF	NM_001130987.2(DYSF):c.1693-62C>T	noncoding	Benign
2	71551601	T	A	T71551601A	DYSF	NM_001130987.2(DYSF):c.1693-6T>A	noncoding	Pathogenic
2	71551631	C	T	C71551631T	DYSF	NM_001130987.2(DYSF):c.1717C>T:p.Arg573Trp	coding	Pathogenic
2	71551635	T	C	T71551635C	DYSF	NM_001130987.2(DYSF):c.1721T>C:p.Leu574Pro	coding	Pathogenic
2	71551676	C	T	C71551676T	DYSF	NM_001130987.2(DYSF):c.1762C>T:p.Gln588Ter	coding	Pathogenic
2	71551699	G	A	G71551699A	DYSF	NM_001130987.2(DYSF):c.1785G>A:p.Ala595=	coding	Benign/Likely_benign
2	71551902	G	A	G71551902A	DYSF	NM_001130987.2(DYSF):c.1806+182G>A	noncoding	Benign
2	71551985	C	T	C71551985T	DYSF	NM_001130987.2(DYSF):c.1806+265C>T	noncoding	Benign
2	71552723	T	C	T71552723C	DYSF	NM_001130987.2(DYSF):c.1807-288T>C	noncoding	Benign
2	71552987	C	G	C71552987G	DYSF	NM_001130987.2(DYSF):c.1807-24C>G	noncoding	Benign
2	71553016	C	G	C71553016G	DYSF	NM_001130987.2(DYSF):c.1812C>G:p.Tyr604Ter	coding	Pathogenic
2	71553071	C	T	C71553071T	DYSF	NM_001130987.2(DYSF):c.1867C>T:p.Gln623Ter	coding	Pathogenic
2	71553085	T	C	T71553085C	DYSF	NM_001130987.2(DYSF):c.1881T>C:p.Asp627=	coding	Benign
2	71553092	C	T	C71553092T	DYSF	NM_001130987.2(DYSF):c.1888C>T:p.Gln630Ter	coding	Pathogenic
2	71553109	C	T	C71553109T	DYSF	NM_001130987.2(DYSF):c.1905C>T:p.Ile635=	coding	Benign
2	71553110	G	C	G71553110C	DYSF	NM_001130987.2(DYSF):c.1906G>C:p.Gly636Arg	coding	Pathogenic/Likely_pathogenic
2	71553118	C	T	C71553118T	DYSF	NM_001130987.2(DYSF):c.1914C>T:p.Tyr638=	coding	Benign/Likely_benign
2	71553119	G	A	G71553119A	DYSF	NM_001130987.2(DYSF):c.1915G>A:p.Gly639Arg	coding	Pathogenic/Likely_pathogenic
2	71553131	G	T	G71553131T	DYSF	NM_001130987.2(DYSF):c.1927G>T:p.Asp643Tyr	coding	Pathogenic
2	71553169	C	A	C71553169A	DYSF	NM_001130987.2(DYSF):c.1965C>A:p.Tyr655Ter	coding	Pathogenic
2	71553691	T	C	T71553691C	DYSF	NM_001130987.2(DYSF):c.1985-116T>C	noncoding	Benign
2	71553776	C	A	C71553776A	DYSF	NM_001130987.2(DYSF):c.1985-31C>A	noncoding	Benign/Likely_benign
2	71553832	G	A	G71553832A	DYSF	NM_001130987.2(DYSF):c.2010G>A:p.Trp670Ter	coding	Pathogenic
2	71555634	C	G	C71555634G	DYSF	NM_001130987.2(DYSF):c.2110-331C>G	noncoding	Benign
2	71555922	G	T	G71555922T	DYSF	NM_001130987.2(DYSF):c.2110-43G>T	noncoding	Benign/Likely_benign
2	71555980	C	T	C71555980T	DYSF	NM_001130987.2(DYSF):c.2125C>T:p.Gln709Ter	coding	Pathogenic
2	71556087	C	T	C71556087T	DYSF	NM_001130987.2(DYSF):c.2216+16C>T	noncoding	Benign
2	71561750	A	G	A71561750G	DYSF	NM_001130987.2(DYSF):c.2217-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	71561751	G	T	G71561751T	DYSF	NM_001130987.2(DYSF):c.2217-1G>T	noncoding	Pathogenic
2	71561837	C	T	C71561837T	DYSF	NM_001130987.2(DYSF):c.2302C>T:p.Gln768Ter	coding	Pathogenic
2	71561879	G	T	G71561879T	DYSF	NM_001130987.2(DYSF):c.2344G>T:p.Glu782Ter	coding	Pathogenic
2	71561900	C	T	C71561900T	DYSF	NM_001130987.2(DYSF):c.2365C>T:p.Gln789Ter	coding	Pathogenic
2	71561913	G	A	G71561913A	DYSF	NM_001130987.2(DYSF):c.2378G>A:p.Trp793Ter	coding	Pathogenic
2	71561945	G	A	G71561945A	DYSF	NM_001130987.2(DYSF):c.2409+1G>A	coding	Pathogenic
2	71564069	C	T	C71564069T	DYSF	NM_001130987.2(DYSF):c.2421C>T:p.Ser807=	coding	Benign/Likely_benign
2	71564074	C	G	C71564074G	DYSF	NM_001130987.2(DYSF):c.2426C>G:p.Pro809Arg	coding	Pathogenic
2	71564090	G	A	G71564090A	DYSF	NM_001130987.2(DYSF):c.2442G>A:p.Trp814Ter	coding	Pathogenic
2	71564121	C	T	C71564121T	DYSF	NM_001130987.2(DYSF):c.2473C>T:p.Gln825Ter	coding	Pathogenic
2	71564196	C	T	C71564196T	DYSF	NM_001130987.2(DYSF):c.2548C>T:p.Gln850Ter	coding	Pathogenic
2	71564202	A	G	A71564202G	DYSF	NM_001130987.2(DYSF):c.2554A>G:p.Ile852Val	coding	Benign/Likely_benign
2	71564447	G	T	G71564447T	DYSF	NM_001130987.2(DYSF):c.2565+234G>T	noncoding	Benign
2	71567953	T	A	T71567953A	DYSF	NM_001130987.2(DYSF):c.2568T>A:p.Tyr856Ter	coding	Pathogenic
2	71568022	A	T	A71568022T	DYSF	NM_001130987.2(DYSF):c.2637A>T:p.Ser879=	coding	Benign
2	71568027	A	C	A71568027C	DYSF	NM_001130987.2(DYSF):c.2642A>C:p.Asp881Ala	coding	Benign/Likely_benign
2	71568083	G	A	G71568083A	DYSF	NM_001130987.2(DYSF):c.2697+1G>A	coding	Pathogenic/Likely_pathogenic
2	71568083	G	C	G71568083C	DYSF	NM_001130987.2(DYSF):c.2697+1G>C	coding	Pathogenic
2	71568170	A	G	A71568170G	DYSF	NM_001130987.2(DYSF):c.2698-2A>G	noncoding	Pathogenic
2	71568181	G	T	G71568181T	DYSF	NM_001130987.2(DYSF):c.2707G>T:p.Glu903Ter	coding	Pathogenic
2	71568291	G	A	G71568291A	DYSF	NM_001130987.2(DYSF):c.2817G>A:p.Ser939=	coding	Benign/Likely_benign
2	71568300	G	A	G71568300A	DYSF	NM_001130987.2(DYSF):c.2826G>A:p.Trp942Ter	coding	Pathogenic
2	71568330	G	A	G71568330A	DYSF	NM_001130987.2(DYSF):c.2856G>A:p.Pro952=	coding	Benign/Likely_benign
2	71568339	G	A	G71568339A	DYSF	NM_001130987.2(DYSF):c.2864+1G>A	coding	Pathogenic/Likely_pathogenic
2	71568340	T	A	T71568340A	DYSF	NM_001130987.2(DYSF):c.2864+2T>A	noncoding	Pathogenic
2	71568422	G	C	G71568422C	DYSF	NM_001130987.2(DYSF):c.2864+84G>C	noncoding	Benign
2	71569735	C	G	C71569735G	DYSF	NM_001130987.2(DYSF):c.2865-85C>G	noncoding	Benign
2	71569818	A	C	A71569818C	DYSF	NM_001130987.2(DYSF):c.2865-2A>C	noncoding	Pathogenic
2	71569878	C	T	C71569878T	DYSF	NM_001130987.2(DYSF):c.2923C>T:p.Gln975Ter	coding	Pathogenic
2	71569884	C	T	C71569884T	DYSF	NM_001130987.2(DYSF):c.2929C>T:p.Arg977Trp	coding	Pathogenic
2	71569903	G	A	G71569903A	DYSF	NM_001130987.2(DYSF):c.2948G>A:p.Trp983Ter	coding	Pathogenic
2	71570046	A	C	A71570046C	DYSF	NM_001130987.2(DYSF):c.2979+112A>C	noncoding	Benign
2	71570235	G	T	G71570235T	DYSF	NM_001130987.2(DYSF):c.2986G>T:p.Glu996Ter	coding	Pathogenic
2	71570277	T	C	T71570277C	DYSF	NM_001130987.2(DYSF):c.3028T>C:p.Trp1010Arg	coding	Pathogenic/Likely_pathogenic
2	71570300	G	T	G71570300T	DYSF	NM_001130987.2(DYSF):c.3051G>T:p.Trp1017Cys	coding	Pathogenic
2	71570336	T	C	T71570336C	DYSF	NM_001130987.2(DYSF):c.3085+2T>C	noncoding	Pathogenic
2	71570582	G	A	G71570582A	DYSF	NM_001130987.2(DYSF):c.3086-17G>A	noncoding	Benign
2	71570608	A	G	A71570608G	DYSF	NM_001130987.2(DYSF):c.3095A>G:p.Tyr1032Cys	coding	Pathogenic/Likely_pathogenic
2	71570632	G	A	G71570632A	DYSF	NM_001130987.2(DYSF):c.3119G>A:p.Arg1040Gln	coding	Benign/Likely_benign
2	71570679	C	T	C71570679T	DYSF	NM_001130987.2(DYSF):c.3166C>T:p.Arg1056Ter	coding	Pathogenic
2	71570680	G	A	G71570680A	DYSF	NM_001130987.2(DYSF):c.3167G>A:p.Arg1056Gln	coding	Pathogenic/Likely_pathogenic
2	71570704	G	A	G71570704A	DYSF	NM_001130987.2(DYSF):c.3191G>A:p.Arg1064His	coding	Pathogenic/Likely_pathogenic
2	71573892	G	A	G71573892A	DYSF	NM_001130987.2(DYSF):c.3229-306G>A	noncoding	Benign
2	71574137	G	C	G71574137C	DYSF	NM_001130987.2(DYSF):c.3229-61G>C	noncoding	Benign
2	71574253	G	A	G71574253A	DYSF	NM_001130987.2(DYSF):c.3284G>A:p.Trp1095Ter	coding	Pathogenic
2	71574306	C	T	C71574306T	DYSF	NM_001130987.2(DYSF):c.3337C>T:p.Arg1113Cys	coding	Benign/Likely_benign
2	71574330	A	T	A71574330T	DYSF	NM_001130987.2(DYSF):c.3361A>T:p.Lys1121Ter	coding	Pathogenic
2	71589472	G	C	G71589472C	DYSF	NM_001130987.2(DYSF):c.3403-121G>C	noncoding	Benign
2	71589481	T	C	T71589481C	DYSF	NM_001130987.2(DYSF):c.3403-112T>C	noncoding	Benign
2	71589591	A	G	A71589591G	DYSF	NM_001130987.2(DYSF):c.3403-2A>G	noncoding	Pathogenic
2	71589873	A	G	A71589873G	DYSF	NM_001130987.2(DYSF):c.3496+187A>G	noncoding	Benign
2	71590178	A	G	A71590178G	DYSF	NM_001130987.2(DYSF):c.3497-33A>G	noncoding	Pathogenic
2	71590212	T	A	T71590212A	DYSF	NM_001130987.2(DYSF):c.3498T>A:p.Tyr1166Ter	coding	Pathogenic/Likely_pathogenic
2	71590246	C	T	C71590246T	DYSF	NM_001130987.2(DYSF):c.3532C>T:p.Gln1178Ter	coding	Pathogenic
2	71598308	G	C	G71598308C	DYSF	NM_001130987.2(DYSF):c.3575-256G>C	noncoding	Benign
2	71598547	C	T	C71598547T	DYSF	NM_001130987.2(DYSF):c.3575-17C>T	noncoding	Benign
2	71598644	C	T	C71598644T	DYSF	NM_001130987.2(DYSF):c.3655C>T:p.Gln1219Ter	coding	Pathogenic
2	71598730	C	A	C71598730A	DYSF	NM_001130987.2(DYSF):c.3741C>A:p.Tyr1247Ter	coding	Pathogenic
2	71598745	T	A	T71598745A	DYSF	NM_001130987.2(DYSF):c.3756T>A:p.Tyr1252Ter	coding	Pathogenic
2	71598878	T	C	T71598878C	DYSF	NM_001130987.2(DYSF):c.3756+133T>C	noncoding	Benign
2	71598879	A	T	A71598879T	DYSF	NM_001130987.2(DYSF):c.3756+134A>T	noncoding	Benign
2	71598947	T	C	T71598947C	DYSF	NM_001130987.2(DYSF):c.3756+202T>C	noncoding	Benign
2	71598972	C	T	C71598972T	DYSF	NM_001130987.2(DYSF):c.3756+227C>T	noncoding	Benign
2	71600425	C	T	C71600425T	DYSF	NM_001130987.2(DYSF):c.3757-277C>T	noncoding	Benign
2	71600690	C	T	C71600690T	DYSF	NM_001130987.2(DYSF):c.3757-12C>T	noncoding	Benign/Likely_benign
2	71600700	A	G	A71600700G	DYSF	NM_001130987.2(DYSF):c.3757-2A>G	noncoding	Pathogenic
2	71600769	G	A	G71600769A	DYSF	NM_001130987.2(DYSF):c.3824G>A:p.Trp1275Ter	coding	Pathogenic
2	71600804	G	T	G71600804T	DYSF	NM_001130987.2(DYSF):c.3859G>T:p.Glu1287Ter	coding	Pathogenic
2	71600831	C	T	C71600831T	DYSF	NM_001130987.2(DYSF):c.3886C>T:p.Gln1296Ter	coding	Pathogenic
2	71601293	A	T	A71601293T	DYSF	NM_001130987.2(DYSF):c.3898-206A>T	noncoding	Benign
2	71602691	G	T	G71602691T	DYSF	NM_001130987.2(DYSF):c.3928-85G>T	noncoding	Benign
2	71602789	C	G	C71602789G	DYSF	NM_001130987.2(DYSF):c.3941C>G:p.Ser1314Ter	coding	Pathogenic
2	71611166	C	T	C71611166T	DYSF	NM_001130987.2(DYSF):c.3958-79C>T	noncoding	Benign
2	71611255	C	A	C71611255A	DYSF	NM_001130987.2(DYSF):c.3968C>A:p.Thr1323Lys	coding	Benign/Likely_benign
2	71611313	C	T	C71611313T	DYSF	NM_001130987.2(DYSF):c.4026C>T:p.Asn1342=	coding	Benign
2	71611329	C	T	C71611329T	DYSF	NM_001130987.2(DYSF):c.4042C>T:p.Gln1348Ter	coding	Pathogenic
2	71611333	G	T	G71611333T	DYSF	NM_001130987.2(DYSF):c.4046G>T:p.Arg1349Leu	coding	Benign/Likely_benign
2	71611425	C	T	C71611425T	DYSF	NM_001130987.2(DYSF):c.4060-40C>T	noncoding	Benign
2	71611467	C	A	C71611467A	DYSF	NM_001130987.2(DYSF):c.4062C>A:p.Ile1354=	coding	Benign
2	71611481	T	C	T71611481C	DYSF	NM_001130987.2(DYSF):c.4076T>C:p.Leu1359Pro	coding	Pathogenic/Likely_pathogenic
2	71611527	C	T	C71611527T	DYSF	NM_001130987.2(DYSF):c.4122C>T:p.Ser1374=	coding	Benign/Likely_benign
2	71611540	T	C	T71611540C	DYSF	NM_001130987.2(DYSF):c.4135T>C:p.Cys1379Arg	coding	Pathogenic
2	71611549	C	T	C71611549T	DYSF	NM_001130987.2(DYSF):c.4144C>T:p.Gln1382Ter	coding	Pathogenic
2	71611558	C	T	C71611558T	DYSF	NM_001130987.2(DYSF):c.4153C>T:p.Gln1385Ter	coding	Pathogenic
2	71611621	G	T	G71611621T	DYSF	NM_001130987.2(DYSF):c.4216G>T:p.Glu1406Ter	coding	Pathogenic
2	71611627	G	C	G71611627C	DYSF	NM_001130987.2(DYSF):c.4221+1G>C	coding	Pathogenic
2	71611722	C	T	C71611722T	DYSF	NM_001130987.2(DYSF):c.4221+96C>T	noncoding	Benign
2	71611745	A	G	A71611745G	DYSF	NM_001130987.2(DYSF):c.4221+119A>G	noncoding	Benign
2	71612621	G	A	G71612621A	DYSF	NM_001130987.2(DYSF):c.4222-20G>A	noncoding	Benign
2	71612667	C	A	C71612667A	DYSF	NM_001130987.2(DYSF):c.4248C>A:p.Cys1416Ter	coding	Pathogenic
2	71612701	C	T	C71612701T	DYSF	NM_001130987.2(DYSF):c.4282C>T:p.Gln1428Ter	coding	Pathogenic
2	71612726	G	A	G71612726A	DYSF	NM_001130987.2(DYSF):c.4307G>A:p.Gly1436Asp	coding	Pathogenic/Likely_pathogenic
2	71612772	C	G	C71612772G	DYSF	NM_001130987.2(DYSF):c.4353C>G:p.Tyr1451Ter	coding	Pathogenic
2	71613088	C	T	C71613088T	DYSF	NM_001130987.2(DYSF):c.4388-246C>T	noncoding	Benign
2	71613376	A	G	A71613376G	DYSF	NM_001130987.2(DYSF):c.4430A>G:p.Asp1477Gly	coding	Benign
2	71613390	G	T	G71613390T	DYSF	NM_001130987.2(DYSF):c.4444G>T:p.Glu1482Ter	coding	Pathogenic
2	71613408	C	T	C71613408T	DYSF	NM_001130987.2(DYSF):c.4462C>T:p.Gln1488Ter	coding	Pathogenic/Likely_pathogenic
2	71620813	C	A	C71620813A	DYSF	NM_001130987.2(DYSF):c.4527+204C>A	noncoding	Benign
2	71643838	C	T	C71643838T	DYSF	NM_001130987.2(DYSF):c.4528-127C>T	noncoding	Benign
2	71643909	A	G	A71643909G	DYSF	NM_001130987.2(DYSF):c.4528-56A>G	noncoding	Benign
2	71643988	G	A	G71643988A	DYSF	NM_001130987.2(DYSF):c.4551G>A:p.Trp1517Ter	coding	Pathogenic
2	71644013	G	T	G71644013T	DYSF	NM_001130987.2(DYSF):c.4576G>T:p.Glu1526Ter	coding	Pathogenic
2	71644027	C	A	C71644027A	DYSF	NM_001130987.2(DYSF):c.4590C>A:p.Cys1530Ter	coding	Pathogenic
2	71644106	A	G	A71644106G	DYSF	NM_001130987.2(DYSF):c.4626+43A>G	noncoding	Benign
2	71655857	C	T	C71655857T	DYSF	NM_001130987.2(DYSF):c.4627-305C>T	noncoding	Benign
2	71658965	C	T	C71658965T	DYSF	NM_001130987.2(DYSF):c.4843C>T:p.Gln1615Ter	coding	Pathogenic
2	71658995	C	T	C71658995T	DYSF	NM_001130987.2(DYSF):c.4873C>T:p.Arg1625Ter	coding	Pathogenic
2	71659031	A	T	A71659031T	DYSF	NM_001130987.2(DYSF):c.4909A>T:p.Lys1637Ter	coding	Pathogenic
2	71659034	G	T	G71659034T	DYSF	NM_001130987.2(DYSF):c.4911+1G>T	coding	Pathogenic/Likely_pathogenic
2	71661900	G	T	G71661900T	DYSF	NM_001130987.2(DYSF):c.5003+1249G>T	noncoding	Pathogenic
2	71661971	A	G	A71661971G	DYSF	NM_001130987.2(DYSF):c.5003+1320A>G	noncoding	Benign
2	71662026	C	G	C71662026G	DYSF	NM_001130987.2(DYSF):c.5003+1375C>G	noncoding	Benign
2	71662031	G	A	G71662031A	DYSF	NM_001130987.2(DYSF):c.5003+1380G>A	noncoding	Benign
2	71662044	G	A	G71662044A	DYSF	NM_001130987.2(DYSF):c.5003+1393G>A	noncoding	Benign
2	71664106	C	T	C71664106T	DYSF	NM_001130987.2(DYSF):c.5004-162C>T	noncoding	Benign
2	71664231	C	T	C71664231T	DYSF	NM_001130987.2(DYSF):c.5004-37C>T	noncoding	Benign
2	71664267	G	A	G71664267A	DYSF	NM_001130987.2(DYSF):c.5004-1G>A	noncoding	Pathogenic
2	71664275	G	T	G71664275T	DYSF	NM_001130987.2(DYSF):c.5011G>T:p.Glu1671Ter	coding	Pathogenic
2	71664322	C	A	C71664322A	DYSF	NM_001130987.2(DYSF):c.5058C>A:p.Leu1686=	coding	Benign/Likely_benign
2	71664350	G	T	G71664350T	DYSF	NM_001130987.2(DYSF):c.5086G>T:p.Glu1696Ter	coding	Pathogenic
2	71664439	G	A	G71664439A	DYSF	NM_001130987.2(DYSF):c.5174+1G>A	coding	Pathogenic
2	71664443	G	A	G71664443A	DYSF	NM_001130987.2(DYSF):c.5174+5G>A	noncoding	Pathogenic
2	71665181	C	T	C71665181T	DYSF	NM_001130987.2(DYSF):c.5194C>T:p.Arg1732Trp	coding	Pathogenic/Likely_pathogenic
2	71665187	C	T	C71665187T	DYSF	NM_001130987.2(DYSF):c.5200C>T:p.Gln1734Ter	coding	Pathogenic/Likely_pathogenic
2	71665298	G	T	G71665298T	DYSF	NM_001130987.2(DYSF):c.5311G>T:p.Glu1771Ter	coding	Pathogenic
2	71665305	G	A	G71665305A	DYSF	NM_001130987.2(DYSF):c.5317+1G>A	coding	Pathogenic
2	71667151	A	G	A71667151G	DYSF	NM_001130987.2(DYSF):c.5318-225A>G	noncoding	Benign
2	71667376	A	G	A71667376G	DYSF	NM_001130987.2(DYSF):c.5318A>G:p.Glu1773Gly	coding	Pathogenic
2	71667441	C	T	C71667441T	DYSF	NM_001130987.2(DYSF):c.5383C>T:p.Gln1795Ter	coding	Pathogenic
2	71667477	C	T	C71667477T	DYSF	NM_001130987.2(DYSF):c.5419C>T:p.Arg1807Trp	coding	Pathogenic/Likely_pathogenic
2	71668752	A	C	A71668752C	DYSF	NM_001130987.2(DYSF):c.5458-2A>C	noncoding	Pathogenic/Likely_pathogenic
2	71668753	G	A	G71668753A	DYSF	NM_001130987.2(DYSF):c.5458-1G>A	noncoding	Pathogenic
2	71668763	C	T	C71668763T	DYSF	NM_001130987.2(DYSF):c.5467C>T:p.Gln1823Ter	coding	Pathogenic
2	71668770	G	A	G71668770A	DYSF	NM_001130987.2(DYSF):c.5474G>A:p.Trp1825Ter	coding	Pathogenic
2	71668842	G	A	G71668842A	DYSF	NM_001130987.2(DYSF):c.5546G>A:p.Arg1849Lys	coding	Pathogenic/Likely_pathogenic
2	71668843	G	T	G71668843T	DYSF	NM_001130987.2(DYSF):c.5546+1G>T	coding	Pathogenic
2	71668844	T	A	T71668844A	DYSF	NM_001130987.2(DYSF):c.5546+2T>A	noncoding	Pathogenic
2	71669179	G	T	G71669179T	DYSF	NM_001130987.2(DYSF):c.5614G>T:p.Glu1872Ter	coding	Pathogenic
2	71669191	G	A	G71669191A	DYSF	NM_001130987.2(DYSF):c.5626G>A:p.Asp1876Asn	coding	Pathogenic
2	71669207	G	A	G71669207A	DYSF	NM_001130987.2(DYSF):c.5642G>A:p.Gly1881Asp	coding	Pathogenic
2	71669208	G	A	G71669208A	DYSF	NM_001130987.2(DYSF):c.5642+1G>A	coding	Pathogenic
2	71669608	G	A	G71669608A	DYSF	NM_001130987.2(DYSF):c.5646G>A:p.Trp1882Ter	coding	Pathogenic
2	71669686	G	A	G71669686A	DYSF	NM_001130987.2(DYSF):c.5724G>A:p.Trp1908Ter	coding	Pathogenic
2	71669705	G	A	G71669705A	DYSF	NM_001130987.2(DYSF):c.5743G>A:p.Asp1915Asn	coding	Benign/Likely_benign
2	71669723	C	T	C71669723T	DYSF	NM_001130987.2(DYSF):c.5761C>T:p.Gln1921Ter	coding	Pathogenic
2	71669945	A	G	A71669945G	DYSF	NM_001130987.2(DYSF):c.5784+199A>G	noncoding	Benign
2	71673373	C	T	C71673373T	DYSF	NM_001130987.2(DYSF):c.5785-824C>T	noncoding	Pathogenic
2	71674012	G	A	G71674012A	DYSF	NM_001130987.2(DYSF):c.5785-185G>A	noncoding	Benign
2	71674156	C	T	C71674156T	DYSF	NM_001130987.2(DYSF):c.5785-41C>T	noncoding	Benign
2	71674190	G	A	G71674190A	DYSF	NM_001130987.2(DYSF):c.5785-7G>A	noncoding	Pathogenic
2	71674242	C	T	C71674242T	DYSF	NM_001130987.2(DYSF):c.5830C>T:p.Arg1944Ter	coding	Pathogenic
2	71674262	G	A	G71674262A	DYSF	NM_001130987.2(DYSF):c.5850G>A:p.Trp1950Ter	coding	Pathogenic
2	71674297	G	A	G71674297A	DYSF	NM_001130987.2(DYSF):c.5884+1G>A	coding	Pathogenic/Likely_pathogenic
2	71679041	T	C	T71679041C	DYSF	NM_001130987.2(DYSF):c.5885-16T>C	noncoding	Benign
2	71679110	A	T	A71679110T	DYSF	NM_001130987.2(DYSF):c.5938A>T:p.Lys1980Ter	coding	Pathogenic
2	71679148	A	C	A71679148C	DYSF	NM_001130987.2(DYSF):c.5976A>C:p.Pro1992=	coding	Benign/Likely_benign
2	71679173	C	T	C71679173T	DYSF	NM_001130987.2(DYSF):c.6001C>T:p.Gln2001Ter	coding	Pathogenic
2	71679193	G	A	G71679193A	DYSF	NM_001130987.2(DYSF):c.6021G>A:p.Trp2007Ter	coding	Pathogenic
2	71679236	G	A	G71679236A	DYSF	NM_001130987.2(DYSF):c.6063+1G>A	coding	Pathogenic
2	71680728	A	G	A71680728G	DYSF	NM_001130987.2(DYSF):c.6064-273A>G	noncoding	Benign
2	71680800	G	T	G71680800T	DYSF	NM_001130987.2(DYSF):c.6064-201G>T	noncoding	Benign
2	71681000	G	C	G71681000C	DYSF	NM_001130987.2(DYSF):c.6064-1G>C	noncoding	Pathogenic
2	71681076	G	T	G71681076T	DYSF	NM_001130987.2(DYSF):c.6139G>T:p.Glu2047Ter	coding	Pathogenic
2	71682233	T	C	T71682233C	DYSF	NM_001130987.2(DYSF):c.6174-297T>C	noncoding	Benign
2	71682597	C	T	C71682597T	DYSF	NM_001130987.2(DYSF):c.6241C>T:p.Arg2081Cys	coding	Pathogenic/Likely_pathogenic
2	71682608	G	A	G71682608A	DYSF	NM_001130987.2(DYSF):c.6252G>A:p.Trp2084Ter	coding	Pathogenic
2	71682692	C	T	C71682692T	DYSF	NM_001130987.2(DYSF):c.6321+15C>T	noncoding	Benign/Likely_benign
2	72132349	G	A	G72132349A	CYP26B1	NM_019885.3(CYP26B1):c.1417C>T:p.Arg473Cys	coding	Benign
2	72132507	G	C	G72132507C	CYP26B1	NM_019885.3(CYP26B1):c.1259C>G:p.Ala420Gly	coding	Benign/Likely_benign
2	72133031	C	T	C72133031T	CYP26B1	NM_019885.3(CYP26B1):c.1138G>A:p.Glu380Lys	coding	Benign
2	72133059	G	A	G72133059A	CYP26B1	NM_019885.3(CYP26B1):c.1110C>T:p.Gly370=	coding	Benign
2	72133071	C	T	C72133071T	CYP26B1	NM_019885.3(CYP26B1):c.1098G>A:p.Thr366=	coding	Benign
2	72133081	C	A	C72133081A	CYP26B1	NM_019885.3(CYP26B1):c.1088G>T:p.Arg363Leu	coding	Pathogenic
2	72134791	G	A	G72134791A	CYP26B1	NM_019885.3(CYP26B1):c.831C>T:p.His277=	coding	Benign
2	72135137	T	C	T72135137C	CYP26B1	NM_019885.3(CYP26B1):c.705+7A>G	noncoding	Benign
2	72135345	T	C	T72135345C	CYP26B1	NM_019885.3(CYP26B1):c.504A>G:p.Thr168=	coding	Benign
2	72135413	A	G	A72135413G	CYP26B1	NM_019885.3(CYP26B1):c.436T>C:p.Ser146Pro	coding	Pathogenic
2	72147771	C	G	C72147771G	CYP26B1	NM_019885.3(CYP26B1):c.64G>C:p.Val22Leu	coding	Benign
2	72147784	C	T	C72147784T	CYP26B1	NM_019885.3(CYP26B1):c.51G>A:p.Ala17=	coding	Benign
2	72179342	T	C	T72179342C	EXOC6B	NM_015189.3(EXOC6B):c.2429A>G:p.His810Arg	coding	Benign
2	72480655	T	A	T72480655A	EXOC6B	NM_015189.3(EXOC6B):c.1761A>T:p.Thr587=	coding	Benign
2	72492312	G	C	G72492312C	EXOC6B	NM_015189.3(EXOC6B):c.1665+6C>G	noncoding	Benign
2	72492402	C	A	C72492402A	EXOC6B	NM_015189.3(EXOC6B):c.1581G>T:p.Arg527=	coding	Benign
2	72499934	C	T	C72499934T	EXOC6B	NM_015189.3(EXOC6B):c.1206G>A:p.Lys402=	coding	Benign
2	72513174	T	G	T72513174G	EXOC6B	NM_015189.3(EXOC6B):c.1125A>C:p.Glu375Asp	coding	Benign
2	72559462	A	T	A72559462T	EXOC6B	NM_015189.3(EXOC6B):c.906T>A:p.Tyr302Ter	coding	Pathogenic
2	72575489	T	C	T72575489C	EXOC6B	NM_015189.3(EXOC6B):c.846+3A>G	noncoding	Benign
2	72887426	C	G	C72887426G	SPR	NM_003124.5(SPR):c.-7C>G	noncoding	Benign
2	72887544	G	A	G72887544A	SPR	NM_003124.5(SPR):c.112G>A:p.Val38Ile	coding	Benign/Likely_benign
2	72887736	G	T	G72887736T	SPR	NM_003124.5(SPR):c.304G>T:p.Gly102Cys	coding	Pathogenic
2	72888312	A	G	A72888312G	SPR	NM_003124.5(SPR):c.305-2A>G	noncoding	Pathogenic
2	72888364	C	T	C72888364T	SPR	NM_003124.5(SPR):c.355C>T:p.Gln119Ter	coding	Pathogenic
2	72888378	C	G	C72888378G	SPR	NM_003124.5(SPR):c.369C>G:p.Tyr123Ter	coding	Pathogenic
2	72888457	A	G	A72888457G	SPR	NM_003124.5(SPR):c.448A>G:p.Arg150Gly	coding	Pathogenic
2	72888497	C	T	C72888497T	SPR	NM_003124.5(SPR):c.488C>T:p.Pro163Leu	coding	Pathogenic
2	72888596	A	G	A72888596G	SPR	NM_003124.5(SPR):c.587A>G:p.Tyr196Cys	coding	Pathogenic
2	72891345	A	G	A72891345G	SPR	NM_003124.5(SPR):c.596-2A>G	noncoding	Pathogenic
2	72891406	C	T	C72891406T	SPR	NM_003124.5(SPR):c.655C>T:p.Arg219Ter	coding	Pathogenic
2	72891502	A	T	A72891502T	SPR	NM_003124.5(SPR):c.751A>T:p.Lys251Ter	coding	Pathogenic
2	72891536	A	G	A72891536G	SPR	NM_003124.5(SPR):c.785A>G:p.Ter262=	coding	Benign
2	72891969	G	A	G72891969A	SPR	NM_003124.5(SPR):c.*432G>A	noncoding	Benign
2	73075533	G	A	G73075533A	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.3963C>T:p.Gly1321=	coding	Benign
2	73075623	G	A	G73075623A	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.3873C>T:p.Asp1291=	coding	Benign
2	73088042	C	T	C73088042T	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.1568+8G>A	noncoding	Benign
2	73088140	G	A	G73088140A	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.1478C>T:p.Ala493Val	coding	Benign
2	73088328	C	T	C73088328T	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.1290G>A:p.Glu430=	coding	Benign
2	73112543	G	C	G73112543C	RAB11FIP5	NM_001371272.1(RAB11FIP5):c.235C>G:p.Pro79Ala	coding	Benign
2	73220775	G	A	G73220775A	SMYD5	NM_006062.3(SMYD5):c.460G>A:p.Ala154Thr	coding	Benign
2	73221873	C	T	C73221873T	SMYD5	NM_006062.3(SMYD5):c.585C>T:p.Asn195=	coding	Benign
2	73252803	C	T	C73252803T	CCT7	NM_006429.4(CCT7):c.1574C>T:p.Ser525Leu	coding	Pathogenic
2	73265273	G	A	G73265273A	FBXO41	NM_001080410.4(FBXO41):c.1564+9C>T	noncoding	Benign
2	73291607	A	G	A73291607G	EGR4	NM_001965.4(EGR4):c.1311T>C:p.Pro437=	coding	Benign
2	73291997	C	T	C73291997T	EGR4	NM_001965.4(EGR4):c.921G>A:p.Thr307=	coding	Benign
2	73292008	G	A	G73292008A	EGR4	NM_001965.4(EGR4):c.910C>T:p.Leu304=	coding	Benign
2	73386151	C	T	C73386151T	ALMS1	NM_015120.4(ALMS1):c.286C>T:p.Gln96Ter	coding	Pathogenic/Likely_pathogenic
2	73386166	G	T	G73386166T	ALMS1	NM_015120.4(ALMS1):c.301G>T:p.Glu101Ter	coding	Pathogenic
2	73386213	G	A	G73386213A	ALMS1	NM_015120.4(ALMS1):c.327+21G>A	noncoding	Benign
2	73408647	G	A	G73408647A	ALMS1	NM_001378454.1(ALMS1):c.350G>A:p.Trp117Ter	coding	Pathogenic
2	73408652	C	T	C73408652T	ALMS1	NM_015120.4(ALMS1):c.358C>T:p.Gln120Ter	coding	Pathogenic/Likely_pathogenic
2	73408664	C	T	C73408664T	ALMS1	NM_001378454.1(ALMS1):c.367C>T:p.Gln123Ter	coding	Pathogenic
2	73408724	C	T	C73408724T	ALMS1	NM_015120.4(ALMS1):c.430C>T:p.Gln144Ter	coding	Pathogenic/Likely_pathogenic
2	73419219	G	T	G73419219T	ALMS1	NM_001378454.1(ALMS1):c.547G>T:p.Glu183Ter	coding	Pathogenic
2	73419261	C	T	C73419261T	ALMS1	NM_001378454.1(ALMS1):c.589C>T:p.Gln197Ter	coding	Pathogenic
2	73422878	C	A	C73422878A	ALMS1	NM_015120.4(ALMS1):c.671C>A:p.Ser224Tyr	coding	Benign/Likely_benign
2	73422881	C	A	C73422881A	ALMS1	NM_015120.4(ALMS1):c.674C>A:p.Pro225His	coding	Benign
2	73422919	G	T	G73422919T	ALMS1	NM_015120.4(ALMS1):c.712G>T:p.Glu238Ter	coding	Pathogenic/Likely_pathogenic
2	73422994	T	A	T73422994A	ALMS1	NM_015120.4(ALMS1):c.767+20T>A	noncoding	Benign
2	73424462	G	A	G73424462A	ALMS1	NM_015120.4(ALMS1):c.800G>A:p.Trp267Ter	coding	Pathogenic
2	73424470	C	T	C73424470T	ALMS1	NM_015120.4(ALMS1):c.808C>T:p.Arg270Ter	coding	Pathogenic
2	73424590	C	T	C73424590T	ALMS1	NM_015120.4(ALMS1):c.928C>T:p.Gln310Ter	coding	Pathogenic
2	73424607	T	C	T73424607C	ALMS1	NM_015120.4(ALMS1):c.945T>C:p.Pro315=	coding	Benign
2	73424610	T	C	T73424610C	ALMS1	NM_015120.4(ALMS1):c.948T>C:p.Ser316=	coding	Benign/Likely_benign
2	73424629	G	T	G73424629T	ALMS1	NM_001378454.1(ALMS1):c.964G>T:p.Glu322Ter	coding	Pathogenic
2	73424640	G	A	G73424640A	ALMS1	NM_015120.4(ALMS1):c.978G>A:p.Ser326=	coding	Benign
2	73424716	C	T	C73424716T	ALMS1	NM_015120.4(ALMS1):c.1054C>T:p.Arg352Ter	coding	Pathogenic
2	73424809	A	G	A73424809G	ALMS1	NM_015120.4(ALMS1):c.1147A>G:p.Thr383Ala	coding	Benign
2	73424839	C	T	C73424839T	ALMS1	NM_001378454.1(ALMS1):c.1174C>T:p.Arg392Cys	coding	Benign
2	73424847	T	C	T73424847C	ALMS1	NM_015120.4(ALMS1):c.1185T>C:p.Tyr395=	coding	Benign/Likely_benign
2	73424873	C	G	C73424873G	ALMS1	NM_015120.4(ALMS1):c.1211C>G:p.Ser404Ter	coding	Pathogenic
2	73426482	G	A	G73426482A	ALMS1	NM_015120.4(ALMS1):c.1270G>A:p.Val424Ile	coding	Benign/Likely_benign
2	73448254	C	G	C73448254G	ALMS1	NM_015120.4(ALMS1):c.1730C>G:p.Ser577Ter	coding	Pathogenic
2	73448343	G	T	G73448343T	ALMS1	NM_015120.4(ALMS1):c.1819G>T:p.Gly607Ter	coding	Pathogenic
2	73448398	A	G	A73448398G	ALMS1	NM_001378454.1(ALMS1):c.1871A>G:p.His624Arg	coding	Benign/Likely_benign
2	73448424	C	T	C73448424T	ALMS1	NM_001378454.1(ALMS1):c.1897C>T:p.Gln633Ter	coding	Pathogenic
2	73448426	A	G	A73448426G	ALMS1	NM_001378454.1(ALMS1):c.1899A>G:p.Gln633=	coding	Benign
2	73448542	T	G	T73448542G	ALMS1	NM_001378454.1(ALMS1):c.2015T>G:p.Val672Gly	coding	Benign
2	73448565	C	T	C73448565T	ALMS1	NM_001378454.1(ALMS1):c.2038C>T:p.Arg680Ter	coding	Pathogenic
2	73448614	C	A	C73448614A	ALMS1	NM_001378454.1(ALMS1):c.2087C>A:p.Ser696Ter	coding	Pathogenic
2	73448717	C	T	C73448717T	ALMS1	NM_001378454.1(ALMS1):c.2190C>T:p.Phe730=	coding	Benign
2	73448730	C	T	C73448730T	ALMS1	NM_001378454.1(ALMS1):c.2203C>T:p.Gln735Ter	coding	Pathogenic
2	73448846	G	A	G73448846A	ALMS1	NM_001378454.1(ALMS1):c.2319G>A:p.Leu773=	coding	Benign
2	73448853	C	T	C73448853T	ALMS1	NM_015120.4(ALMS1):c.2329C>T:p.Gln777Ter	coding	Pathogenic
2	73448881	A	G	A73448881G	ALMS1	NM_015120.4(ALMS1):c.2357A>G:p.Glu786Gly	coding	Benign
2	73448943	G	C	G73448943C	ALMS1	NM_015120.4(ALMS1):c.2419G>C:p.Val807Leu	coding	Benign/Likely_benign
2	73448994	C	T	C73448994T	ALMS1	NM_001378454.1(ALMS1):c.2467C>T:p.Gln823Ter	coding	Pathogenic
2	73449062	C	T	C73449062T	ALMS1	NM_001378454.1(ALMS1):c.2535C>T:p.Asp845=	coding	Benign
2	73449144	C	T	C73449144T	ALMS1	NM_001378454.1(ALMS1):c.2617C>T:p.Gln873Ter	coding	Pathogenic
2	73449185	A	G	A73449185G	ALMS1	NM_015120.4(ALMS1):c.2661A>G:p.Lys887=	coding	Benign/Likely_benign
2	73449188	A	G	A73449188G	ALMS1	NM_015120.4(ALMS1):c.2664A>G:p.Val888=	coding	Benign
2	73449257	C	T	C73449257T	ALMS1	NM_015120.4(ALMS1):c.2733C>T:p.His911=	coding	Benign/Likely_benign
2	73449282	C	T	C73449282T	ALMS1	NM_001378454.1(ALMS1):c.2755C>T:p.Gln919Ter	coding	Pathogenic
2	73449291	C	T	C73449291T	ALMS1	NM_015120.4(ALMS1):c.2767C>T:p.Leu923=	coding	Benign/Likely_benign
2	73449346	T	A	T73449346A	ALMS1	NM_015120.4(ALMS1):c.2822T>A:p.Leu941Ter	coding	Pathogenic
2	73449538	C	G	C73449538G	ALMS1	NM_001378454.1(ALMS1):c.3011C>G:p.Ser1004Ter	coding	Pathogenic
2	73449578	G	A	G73449578A	ALMS1	NM_001378454.1(ALMS1):c.3051G>A:p.Trp1017Ter	coding	Pathogenic
2	73449663	C	T	C73449663T	ALMS1	NM_001378454.1(ALMS1):c.3136C>T:p.Gln1046Ter	coding	Pathogenic
2	73449677	C	A	C73449677A	ALMS1	NM_001378454.1(ALMS1):c.3150C>A:p.Tyr1050Ter	coding	Pathogenic
2	73449720	T	C	T73449720C	ALMS1	NM_015120.4(ALMS1):c.3196T>C:p.Ser1066Pro	coding	Benign/Likely_benign
2	73449793	C	G	C73449793G	ALMS1	NM_015120.4(ALMS1):c.3269C>G:p.Thr1090Arg	coding	Benign/Likely_benign
2	73449834	C	G	C73449834G	ALMS1	NM_015120.4(ALMS1):c.3310C>G:p.Pro1104Ala	coding	Benign
2	73449838	G	A	G73449838A	ALMS1	NM_015120.4(ALMS1):c.3314G>A:p.Gly1105Asp	coding	Benign/Likely_benign
2	73449852	C	T	C73449852T	ALMS1	NM_001378454.1(ALMS1):c.3325C>T:p.Gln1109Ter	coding	Pathogenic
2	73450259	G	A	G73450259A	ALMS1	NM_015120.4(ALMS1):c.3735G>A:p.Lys1245=	coding	Benign/Likely_benign
2	73450394	T	G	T73450394G	ALMS1	NM_015120.4(ALMS1):c.3870T>G:p.Tyr1290Ter	coding	Pathogenic
2	73450421	A	G	A73450421G	ALMS1	NM_001378454.1(ALMS1):c.3894A>G:p.Gln1298=	coding	Benign
2	73450426	C	A	C73450426A	ALMS1	NM_015120.4(ALMS1):c.3902C>A:p.Ser1301Ter	coding	Pathogenic
2	73450681	C	G	C73450681G	ALMS1	NM_015120.4(ALMS1):c.4157C>G:p.Thr1386Arg	coding	Benign
2	73450706	A	G	A73450706G	ALMS1	NM_001378454.1(ALMS1):c.4179A>G:p.Gln1393=	coding	Benign
2	73450707	C	T	C73450707T	ALMS1	NM_015120.4(ALMS1):c.4183C>T:p.Gln1395Ter	coding	Pathogenic
2	73450765	G	C	G73450765C	ALMS1	NM_015120.4(ALMS1):c.4241G>C:p.Gly1414Ala	coding	Benign
2	73450771	G	C	G73450771C	ALMS1	NM_001378454.1(ALMS1):c.4244G>C:p.Gly1415Ala	coding	Benign
2	73450845	C	T	C73450845T	ALMS1	NM_001378454.1(ALMS1):c.4318C>T:p.Gln1440Ter	coding	Pathogenic
2	73450917	C	T	C73450917T	ALMS1	NM_015120.4(ALMS1):c.4393C>T:p.Gln1465Ter	coding	Pathogenic
2	73451132	A	G	A73451132G	ALMS1	NM_015120.4(ALMS1):c.4608A>G:p.Gln1536=	coding	Benign/Likely_benign
2	73451461	C	A	C73451461A	ALMS1	NM_001378454.1(ALMS1):c.4934C>A:p.Ser1645Ter	coding	Pathogenic
2	73451489	G	T	G73451489T	ALMS1	NM_001378454.1(ALMS1):c.4962G>T:p.Lys1654Asn	coding	Benign
2	73451669	T	G	T73451669G	ALMS1	NM_015120.4(ALMS1):c.5145T>G:p.Tyr1715Ter	coding	Pathogenic
2	73451696	A	G	A73451696G	ALMS1	NM_015120.4(ALMS1):c.5172A>G:p.Gln1724=	coding	Benign
2	73451724	C	T	C73451724T	ALMS1	NM_015120.4(ALMS1):c.5200C>T:p.Gln1734Ter	coding	Pathogenic/Likely_pathogenic
2	73451772	A	G	A73451772G	ALMS1	NM_015120.4(ALMS1):c.5248A>G:p.Thr1750Ala	coding	Benign/Likely_benign
2	73451886	A	G	A73451886G	ALMS1	NM_001378454.1(ALMS1):c.5359A>G:p.Asn1787Asp	coding	Benign
2	73451907	C	T	C73451907T	ALMS1	NM_001378454.1(ALMS1):c.5380C>T:p.Gln1794Ter	coding	Pathogenic
2	73451960	G	C	G73451960C	ALMS1	NM_001378454.1(ALMS1):c.5433G>C:p.Lys1811Asn	coding	Benign
2	73451984	G	A	G73451984A	ALMS1	NM_015120.4(ALMS1):c.5460G>A:p.Glu1820=	coding	Benign/Likely_benign
2	73451990	G	A	G73451990A	ALMS1	NM_015120.4(ALMS1):c.5466G>A:p.Pro1822=	coding	Benign
2	73452114	C	T	C73452114T	ALMS1	NM_015120.4(ALMS1):c.5590C>T:p.Gln1864Ter	coding	Pathogenic
2	73452147	A	G	A73452147G	ALMS1	NM_015120.4(ALMS1):c.5623A>G:p.Lys1875Glu	coding	Benign
2	73452153	A	G	A73452153G	ALMS1	NM_001378454.1(ALMS1):c.5626A>G:p.Ile1876Val	coding	Benign
2	73452313	G	A	G73452313A	ALMS1	NM_001378454.1(ALMS1):c.5786G>A:p.Arg1929Gln	coding	Benign
2	73452430	C	G	C73452430G	ALMS1	NM_015120.4(ALMS1):c.5906C>G:p.Ser1969Ter	coding	Pathogenic
2	73452453	C	T	C73452453T	ALMS1	NM_001378454.1(ALMS1):c.5926C>T:p.Gln1976Ter	coding	Pathogenic
2	73452534	A	G	A73452534G	ALMS1	NM_015120.4(ALMS1):c.6010A>G:p.Ile2004Val	coding	Benign/Likely_benign
2	73452609	T	C	T73452609C	ALMS1	NM_015120.4(ALMS1):c.6085T>C:p.Ser2029Pro	coding	Benign/Likely_benign
2	73452621	G	T	G73452621T	ALMS1	NM_001378454.1(ALMS1):c.6094G>T:p.Gly2032Ter	coding	Pathogenic
2	73452739	T	C	T73452739C	ALMS1	NM_001378454.1(ALMS1):c.6212T>C:p.Ile2071Thr	coding	Benign
2	73452829	C	A	C73452829A	ALMS1	NM_001378454.1(ALMS1):c.6302C>A:p.Ser2101Ter	coding	Pathogenic
2	73452829	C	T	C73452829T	ALMS1	NM_001378454.1(ALMS1):c.6302C>T:p.Ser2101Leu	coding	Benign
2	73452863	T	A	T73452863A	ALMS1	NM_001378454.1(ALMS1):c.6336T>A:p.Ser2112Arg	coding	Benign
2	73452960	C	T	C73452960T	ALMS1	NM_015120.4(ALMS1):c.6436C>T:p.Arg2146Ter	coding	Pathogenic
2	73452991	A	G	A73452991G	ALMS1	NM_015120.4(ALMS1):c.6467A>G:p.Asp2156Gly	coding	Benign/Likely_benign
2	73453080	C	T	C73453080T	ALMS1	NM_001378454.1(ALMS1):c.6553C>T:p.Pro2185Ser	coding	Benign/Likely_benign
2	73453279	A	G	A73453279G	ALMS1	NM_015120.4(ALMS1):c.6755A>G:p.Asp2252Gly	coding	Benign/Likely_benign
2	73453324	T	A	T73453324A	ALMS1	NM_015120.4(ALMS1):c.6800T>A:p.Leu2267Ter	coding	Pathogenic/Likely_pathogenic
2	73453381	G	C	G73453381C	ALMS1	NM_001378454.1(ALMS1):c.6854G>C:p.Arg2285Pro	coding	Benign
2	73453659	C	T	C73453659T	ALMS1	NM_015120.4(ALMS1):c.7135C>T:p.Leu2379Phe	coding	Pathogenic
2	73453771	C	A	C73453771A	ALMS1	NM_015120.4(ALMS1):c.7247C>A:p.Ser2416Ter	coding	Pathogenic
2	73453795	A	G	A73453795G	ALMS1	NM_015120.4(ALMS1):c.7271A>G:p.Asn2424Ser	coding	Benign/Likely_benign
2	73453840	C	A	C73453840A	ALMS1	NM_015120.4(ALMS1):c.7316C>A:p.Ser2439Ter	coding	Pathogenic
2	73453926	G	T	G73453926T	ALMS1	NM_001378454.1(ALMS1):c.7399G>T:p.Glu2467Ter	coding	Pathogenic
2	73453960	C	G	C73453960G	ALMS1	NM_001378454.1(ALMS1):c.7433C>G:p.Ser2478Ter	coding	Pathogenic
2	73454058	C	T	C73454058T	ALMS1	NM_001378454.1(ALMS1):c.7531C>T:p.Arg2511Ter	coding	Pathogenic
2	73454999	A	G	A73454999G	ALMS1	NM_015120.4(ALMS1):c.7541-163A>G	noncoding	Benign
2	73455296	G	A	G73455296A	ALMS1	NM_015120.4(ALMS1):c.7677+1G>A	coding	Pathogenic
2	73489490	C	G	C73489490G	ALMS1	NM_015120.4(ALMS1):c.7675-144C>G	noncoding	Benign
2	73489683	G	A	G73489683A	ALMS1	NM_001378454.1(ALMS1):c.7724G>A:p.Ser2575Asn	coding	Benign
2	73489745	C	T	C73489745T	ALMS1	NM_015120.4(ALMS1):c.7789C>T:p.Gln2597Ter	coding	Pathogenic
2	73489964	C	T	C73489964T	ALMS1	NM_015120.4(ALMS1):c.8008C>T:p.Arg2670Ter	coding	Pathogenic
2	73489976	G	C	G73489976C	ALMS1	NM_001378454.1(ALMS1):c.8017G>C:p.Asp2673His	coding	Benign
2	73490120	C	T	C73490120T	ALMS1	NM_015120.4(ALMS1):c.8164C>T:p.Arg2722Ter	coding	Pathogenic
2	73490339	C	T	C73490339T	ALMS1	NM_015120.4(ALMS1):c.8383C>T:p.Gln2795Ter	coding	Pathogenic
2	73490440	G	T	G73490440T	ALMS1	NM_001378454.1(ALMS1):c.8481G>T:p.Arg2827Ser	coding	Benign
2	73490505	G	A	G73490505A	ALMS1	NM_015120.4(ALMS1):c.8549G>A:p.Arg2850Lys	coding	Benign
2	73490522	G	T	G73490522T	ALMS1	NM_001378454.1(ALMS1):c.8563G>T:p.Gly2855Ter	coding	Pathogenic
2	73490529	A	G	A73490529G	ALMS1	NM_001378454.1(ALMS1):c.8570A>G:p.Asn2857Ser	coding	Benign
2	73490701	A	G	A73490701G	ALMS1	NM_015120.4(ALMS1):c.8745A>G:p.Val2915=	coding	Benign/Likely_benign
2	73490722	C	A	C73490722A	ALMS1	NM_015120.4(ALMS1):c.8766C>A:p.Cys2922Ter	coding	Pathogenic
2	73490738	C	T	C73490738T	ALMS1	NM_001378454.1(ALMS1):c.8779C>T:p.Arg2927Ter	coding	Pathogenic
2	73491150	T	G	T73491150G	ALMS1	NM_015120.4(ALMS1):c.9194T>G:p.Leu3065Ter	coding	Pathogenic
2	73491497	C	T	C73491497T	ALMS1	NM_015120.4(ALMS1):c.9541C>T:p.Arg3181Ter	coding	Pathogenic
2	73519516	T	C	T73519516C	ALMS1	NM_015120.4(ALMS1):c.9540-259T>C	noncoding	Benign
2	73519796	C	T	C73519796T	ALMS1	NM_001378454.1(ALMS1):c.9561C>T:p.Thr3187=	coding	Benign
2	73520002	C	G	C73520002G	ALMS1	NM_015120.4(ALMS1):c.9770C>G:p.Ser3257Cys	coding	Benign/Likely_benign
2	73534754	G	A	G73534754A	ALMS1	NM_015120.4(ALMS1):c.9782-70G>A	noncoding	Benign
2	73534815	C	T	C73534815T	ALMS1	NM_001378454.1(ALMS1):c.9782-9C>T	noncoding	Benign
2	73534969	C	T	C73534969T	ALMS1	NM_015120.4(ALMS1):c.9910+20C>T	noncoding	Benign
2	73535109	A	G	A73535109G	ALMS1	NM_015120.4(ALMS1):c.9907+160A>G	noncoding	Benign
2	73535258	G	A	G73535258A	ALMS1	NM_015120.4(ALMS1):c.9907+309G>A	noncoding	Benign
2	73550273	A	G	A73550273G	ALMS1	NM_001378454.1(ALMS1):c.9914A>G:p.Asn3305Ser	coding	Benign
2	73550333	C	G	C73550333G	ALMS1	NM_001378454.1(ALMS1):c.9974C>G:p.Ser3325Ter	coding	Pathogenic
2	73557350	T	A	T73557350A	ALMS1	NM_001378454.1(ALMS1):c.10209T>A:p.Thr3403=	coding	Benign
2	73559030	G	C	G73559030C	ALMS1	NM_001378454.1(ALMS1):c.10272G>C:p.Lys3424Asn	coding	Benign/Likely_benign
2	73559061	A	G	A73559061G	ALMS1	NM_015120.4(ALMS1):c.10306A>G:p.Lys3436Glu	coding	Benign
2	73559093	C	T	C73559093T	ALMS1	NM_015120.4(ALMS1):c.10338C>T:p.Pro3446=	coding	Benign
2	73559115	A	T	A73559115T	ALMS1	NM_001378454.1(ALMS1):c.10357A>T:p.Lys3453Ter	coding	Pathogenic
2	73572023	C	A	C73572023A	ALMS1	NM_015120.4(ALMS1):c.10385-239C>A	noncoding	Benign
2	73572341	A	G	A73572341G	ALMS1	NM_001378454.1(ALMS1):c.10464A>G:p.Val3488=	coding	Benign/Likely_benign
2	73572357	C	T	C73572357T	ALMS1	NM_015120.4(ALMS1):c.10483C>T:p.Gln3495Ter	coding	Pathogenic
2	73572505	C	G	C73572505G	ALMS1	NM_001378454.1(ALMS1):c.10628C>G:p.Thr3543Ser	coding	Benign/Likely_benign
2	73572628	A	T	A73572628T	ALMS1	NM_015120.4(ALMS1):c.10754A>T:p.Gln3585Leu	coding	Benign/Likely_benign
2	73572699	C	T	C73572699T	ALMS1	NM_015120.4(ALMS1):c.10825C>T:p.Arg3609Ter	coding	Pathogenic
2	73572759	C	T	C73572759T	ALMS1	NM_015120.4(ALMS1):c.10885C>T:p.Arg3629Ter	coding	Pathogenic
2	73572819	G	T	G73572819T	ALMS1	NM_015120.4(ALMS1):c.10945G>T:p.Glu3649Ter	coding	Pathogenic
2	73572849	C	T	C73572849T	ALMS1	NM_001378454.1(ALMS1):c.10972C>T:p.Arg3658Ter	coding	Pathogenic
2	73572865	G	A	G73572865A	ALMS1	NM_001378454.1(ALMS1):c.10988G>A:p.Trp3663Ter	coding	Pathogenic
2	73572866	G	A	G73572866A	ALMS1	NM_015120.4(ALMS1):c.10992G>A:p.Trp3664Ter	coding	Pathogenic
2	73572924	G	T	G73572924T	ALMS1	NM_001378454.1(ALMS1):c.11047G>T:p.Glu3683Ter	coding	Pathogenic
2	73572931	G	A	G73572931A	ALMS1	NM_001378454.1(ALMS1):c.11054G>A:p.Ser3685Asn	coding	Benign
2	73572981	C	T	C73572981T	ALMS1	NM_001378454.1(ALMS1):c.11104C>T:p.Arg3702Ter	coding	Pathogenic
2	73572994	C	G	C73572994G	ALMS1	NM_015120.4(ALMS1):c.11120C>G:p.Ser3707Cys	coding	Benign
2	73573081	C	A	C73573081A	ALMS1	NM_015120.4(ALMS1):c.11207C>A:p.Ser3736Ter	coding	Pathogenic
2	73573143	G	A	G73573143A	ALMS1	NM_001378454.1(ALMS1):c.11266G>A:p.Gly3756Ser	coding	Benign
2	73573290	C	T	C73573290T	ALMS1	NM_001378454.1(ALMS1):c.11413C>T:p.Arg3805Ter	coding	Pathogenic
2	73573323	C	T	C73573323T	ALMS1	NM_015120.4(ALMS1):c.11449C>T:p.Gln3817Ter	coding	Pathogenic
2	73573358	C	G	C73573358G	ALMS1	NM_015120.4(ALMS1):c.11484C>G:p.Ser3828Arg	coding	Benign
2	73573400	G	A	G73573400A	ALMS1	NM_001378454.1(ALMS1):c.11523G>A:p.Glu3841=	coding	Benign
2	73599454	C	T	C73599454T	ALMS1	NM_015120.4(ALMS1):c.11604C>T:p.Phe3868=	coding	Benign/Likely_benign
2	73599640	A	G	A73599640G	ALMS1	NM_015120.4(ALMS1):c.11668+119A>G	noncoding	Benign
2	73600754	C	T	C73600754T	ALMS1	NM_015120.4(ALMS1):c.11748C>T:p.Ser3916=	coding	Benign/Likely_benign
2	73600793	G	A	G73600793A	ALMS1	NM_015120.4(ALMS1):c.11787G>A:p.Trp3929Ter	coding	Pathogenic
2	73600830	G	A	G73600830A	ALMS1	NM_001378454.1(ALMS1):c.11821G>A:p.Gly3941Ser	coding	Benign/Likely_benign
2	73600899	G	A	G73600899A	ALMS1	NM_015120.4(ALMS1):c.11875+18G>A	noncoding	Benign/Likely_benign
2	73601183	T	C	T73601183C	ALMS1	NM_001378454.1(ALMS1):c.11873-12T>C	noncoding	Benign
2	73601313	G	A	G73601313A	ALMS1	NM_015120.4(ALMS1):c.11994G>A:p.Trp3998Ter	coding	Pathogenic/Likely_pathogenic
2	73601411	G	A	G73601411A	ALMS1	NM_001378454.1(ALMS1):c.12089G>A:p.Arg4030Lys	coding	Benign
2	73602245	C	T	C73602245T	ALMS1	NM_001378454.1(ALMS1):c.12175C>T:p.Leu4059=	coding	Benign
2	73602275	C	T	C73602275T	ALMS1	NM_015120.4(ALMS1):c.12208C>T:p.Gln4070Ter	coding	Pathogenic
2	73602373	G	A	G73602373A	ALMS1	NM_015120.4(ALMS1):c.12301+5G>A	noncoding	Benign/Likely_benign
2	73602551	C	T	C73602551T	ALMS1	NM_015120.4(ALMS1):c.12298+183C>T	noncoding	Benign
2	73603322	A	T	A73603322T	ALMS1	NM_015120.4(ALMS1):c.12365+18A>T	noncoding	Benign/Likely_benign
2	73603327	A	T	A73603327T	ALMS1	NM_015120.4(ALMS1):c.12362+23A>T	noncoding	Benign
2	73603328	C	T	C73603328T	ALMS1	NM_015120.4(ALMS1):c.12362+24C>T	noncoding	Benign
2	73603331	A	G	A73603331G	ALMS1	NM_015120.4(ALMS1):c.12362+27A>G	noncoding	Benign
2	73603361	C	T	C73603361T	ALMS1	NM_015120.4(ALMS1):c.12362+57C>T	noncoding	Benign
2	73608485	C	T	C73608485T	ALMS1	NM_001378454.1(ALMS1):c.12373C>T:p.Gln4125Ter	coding	Pathogenic
2	73609766	G	C	G73609766C	ALMS1	NM_001378454.1(ALMS1):c.*154G>C	noncoding	Benign
2	73609879	T	A	T73609879A	ALMS1	NM_015120.4(ALMS1):c.*267T>A	noncoding	Benign
2	73730025	T	C	T73730025C	TPRKB	NM_016058.4(TPRKB):c.446A>G:p.Tyr149Cys	coding	Pathogenic
2	73730594	A	G	A73730594G	TPRKB	NM_016058.4(TPRKB):c.407T>C:p.Leu136Pro	coding	Pathogenic
2	73730611	C	T	C73730611T	TPRKB	NM_016058.5(TPRKB):c.390G>A:p.Gln130=	coding	Benign
2	73766413	G	C	G73766413C	DUSP11	NM_003584.2(DUSP11):c.935+5C>G	noncoding	Benign
2	73775051	C	G	C73775051G	DUSP11	NM_003584.2(DUSP11):c.319-7G>C	noncoding	Benign
2	73780092	C	T	C73780092T	DUSP11	NM_003584.2(DUSP11):c.24G>A:p.Glu8=	coding	Benign
2	73830968	C	T	C73830968T	STAMBP	NM_213622.4(STAMBP):c.112C>T:p.Arg38Cys	coding	Pathogenic/Likely_pathogenic
2	73845186	T	A	T73845186A	STAMBP	NM_213622.4(STAMBP):c.299T>A:p.Phe100Tyr	coding	Pathogenic
2	73847383	G	A	G73847383A	STAMBP	NM_213622.4(STAMBP):c.376-4G>A	noncoding	Benign
2	73847429	C	T	C73847429T	STAMBP	NM_213622.4(STAMBP):c.418C>T:p.Gln140Ter	coding	Pathogenic
2	73847543	C	T	C73847543T	STAMBP	NM_213622.4(STAMBP):c.532C>T:p.Arg178Ter	coding	Pathogenic
2	73847660	C	T	C73847660T	STAMBP	NM_213622.4(STAMBP):c.649C>T:p.Gln217Ter	coding	Pathogenic
2	73847718	C	T	C73847718T	STAMBP	NM_213622.4(STAMBP):c.707C>T:p.Ser236Phe	coding	Pathogenic
2	73850446	C	T	C73850446T	STAMBP	NM_213622.4(STAMBP):c.938C>T:p.Thr313Ile	coding	Pathogenic
2	73862254	C	T	C73862254T	STAMBP	NM_213622.4(STAMBP):c.1270C>T:p.Arg424Ter	coding	Pathogenic
2	73901424	G	A	G73901424A	ACTG2	NM_001615.4(ACTG2):c.113G>A:p.Arg38His	coding	Pathogenic
2	73901427	C	T	C73901427T	ACTG2	NM_001615.4(ACTG2):c.116C>T:p.Pro39Leu	coding	Pathogenic
2	73901429	C	T	C73901429T	ACTG2	NM_001615.4(ACTG2):c.118C>T:p.Arg40Cys	coding	Pathogenic/Likely_pathogenic
2	73901430	G	A	G73901430A	ACTG2	NM_001615.4(ACTG2):c.119G>A:p.Arg40His	coding	Pathogenic
2	73902367	T	C	T73902367C	ACTG2	NM_001615.4(ACTG2):c.134T>C:p.Met45Thr	coding	Pathogenic
2	73902420	C	G	C73902420G	ACTG2	NM_001615.4(ACTG2):c.187C>G:p.Arg63Gly	coding	Pathogenic
2	73902421	G	A	G73902421A	ACTG2	NM_001615.4(ACTG2):c.188G>A:p.Arg63Gln	coding	Pathogenic
2	73902479	C	T	C73902479T	ACTG2	NM_001615.4(ACTG2):c.246C>T:p.Asp82=	coding	Benign
2	73902698	C	A	C73902698A	ACTG2	NM_001615.4(ACTG2):c.255+210C>A	noncoding	Pathogenic
2	73908771	A	G	A73908771G	ACTG2	NM_001615.4(ACTG2):c.354A>G:p.Glu118=	coding	Benign
2	73909088	T	A	T73909088A	ACTG2	NM_001615.4(ACTG2):c.400T>A:p.Tyr134Asn	coding	Pathogenic
2	73909130	C	A	C73909130A	ACTG2	NM_001615.4(ACTG2):c.442C>A:p.Arg148Ser	coding	Pathogenic
2	73913489	C	T	C73913489T	ACTG2	NM_001615.4(ACTG2):c.456C>T:p.Ile152=	coding	Benign
2	73913565	C	T	C73913565T	ACTG2	NM_001615.4(ACTG2):c.532C>T:p.Arg178Cys	coding	Pathogenic
2	73913566	G	A	G73913566A	ACTG2	NM_001615.4(ACTG2):c.533G>A:p.Arg178His	coding	Pathogenic
2	73913566	G	T	G73913566T	ACTG2	NM_001615.4(ACTG2):c.533G>T:p.Arg178Leu	coding	Pathogenic
2	73913617	C	T	C73913617T	ACTG2	NM_001615.4(ACTG2):c.584C>T:p.Thr195Ile	coding	Pathogenic
2	73913626	G	A	G73913626A	ACTG2	NM_001615.4(ACTG2):c.593G>A:p.Gly198Asp	coding	Pathogenic
2	73913646	G	A	G73913646A	ACTG2	NM_001615.4(ACTG2):c.613G>A:p.Ala205Thr	coding	Pathogenic
2	73914835	C	T	C73914835T	ACTG2	NM_001615.4(ACTG2):c.769C>T:p.Arg257Cys	coding	Pathogenic
2	73914836	G	A	G73914836A	ACTG2	NM_001615.4(ACTG2):c.770G>A:p.Arg257His	coding	Pathogenic
2	73916747	C	T	C73916747T	ACTG2	NM_001615.4(ACTG2):c.969C>T:p.Pro323=	coding	Benign
2	73926863	G	A	G73926863A	DGUOK	NM_080916.2(DGUOK):c.-48G>A	noncoding	Benign/Likely_benign
2	73927033	C	G	C73927033G	DGUOK	NM_080916.3(DGUOK):c.123C>G:p.Leu41=	coding	Benign/Likely_benign
2	73927040	G	A	G73927040A	DGUOK	NM_080916.3(DGUOK):c.130G>A:p.Glu44Lys	coding	Pathogenic
2	73927047	A	G	A73927047G	DGUOK	NM_080916.3(DGUOK):c.137A>G:p.Asn46Ser	coding	Pathogenic/Likely_pathogenic
2	73927061	C	T	C73927061T	DGUOK	NM_080916.3(DGUOK):c.142+9C>T	noncoding	Benign/Likely_benign
2	73938729	G	A	G73938729A	DGUOK	NM_080916.3(DGUOK):c.143-181G>A	noncoding	Benign
2	73938926	G	A	G73938926A	DGUOK	NM_080916.3(DGUOK):c.159G>A:p.Thr53=	coding	Benign
2	73938953	C	A	C73938953A	DGUOK	NM_080916.3(DGUOK):c.186C>A:p.Tyr62Ter	coding	Pathogenic
2	73938962	G	A	G73938962A	DGUOK	NM_080916.3(DGUOK):c.195G>A:p.Trp65Ter	coding	Pathogenic
2	73939299	T	A	T73939299A	DGUOK	NM_080916.3(DGUOK):c.255+277T>A	noncoding	Benign
2	73946529	A	C	A73946529C	DGUOK	NM_080916.3(DGUOK):c.256-190A>C	noncoding	Benign
2	73946776	C	T	C73946776T	DGUOK	NM_080916.3(DGUOK):c.313C>T:p.Arg105Ter	coding	Pathogenic
2	73946886	G	A	G73946886A	DGUOK	NM_080916.3(DGUOK):c.423G>A:p.Glu141=	coding	Benign/Likely_benign
2	73946888	G	A	G73946888A	DGUOK	NM_080916.3(DGUOK):c.425G>A:p.Arg142Lys	coding	Pathogenic
2	73946907	G	A	G73946907A	DGUOK	NM_080916.3(DGUOK):c.443+1G>A	coding	Pathogenic
2	73950574	C	G	C73950574G	DGUOK	NM_080916.3(DGUOK):c.444-11C>G	noncoding	Pathogenic/Likely_pathogenic
2	73950635	A	T	A73950635T	DGUOK	NM_080916.3(DGUOK):c.494A>T:p.Glu165Val	coding	Pathogenic
2	73950650	A	G	A73950650G	DGUOK	NM_080916.3(DGUOK):c.509A>G:p.Gln170Arg	coding	Benign/Likely_benign
2	73950732	G	A	G73950732A	DGUOK	NM_080916.3(DGUOK):c.591G>A:p.Gln197=	coding	Pathogenic
2	73950953	T	C	T73950953C	DGUOK	NM_080916.3(DGUOK):c.591+221T>C	noncoding	Benign
2	73957191	G	T	G73957191T	DGUOK	NM_080916.3(DGUOK):c.658G>T:p.Glu220Ter	coding	Pathogenic
2	73957212	G	A	G73957212A	DGUOK	NM_080916.3(DGUOK):c.679G>A:p.Glu227Lys	coding	Pathogenic
2	73958187	T	C	T73958187C	DGUOK	NM_080916.3(DGUOK):c.749T>C:p.Leu250Ser	coding	Pathogenic
2	73958201	G	T	G73958201T	DGUOK	NM_080916.3(DGUOK):c.763G>T:p.Asp255Tyr	coding	Pathogenic
2	73958235	T	G	T73958235G	DGUOK	NM_080916.3(DGUOK):c.797T>G:p.Leu266Arg	coding	Pathogenic
2	73958749	A	T	A73958749T	DGUOK	NM_080916.3(DGUOK):c.*13A>T	noncoding	Benign
2	73958855	C	T	C73958855T	DGUOK	NM_080916.3(DGUOK):c.*119C>T	noncoding	Benign
2	74047617	T	C	T74047617C	TET3	NM_001287491.2(TET3):c.1700T>C:p.Val567Ala	coding	Benign
2	74047851	C	T	C74047851T	TET3	NM_001287491.2(TET3):c.1934C>T:p.Pro645Leu	coding	Benign
2	74048052	G	A	G74048052A	TET3	NM_001287491.2(TET3):c.2135G>A:p.Arg712Gln	coding	Benign
2	74073606	C	T	C74073606T	TET3	NM_001287491.2(TET3):c.2552C>T:p.Thr851Met	coding	Pathogenic/Likely_pathogenic
2	74087872	G	T	G74087872T	TET3	NM_001287491.2(TET3):c.2722G>T:p.Val908Leu	coding	Pathogenic/Likely_pathogenic
2	74087955	C	T	C74087955T	TET3	NM_001287491.2(TET3):c.2805C>T:p.Leu935=	coding	Benign
2	74093614	T	G	T74093614G	TET3	NM_001287491.2(TET3):c.3215T>G:p.Phe1072Cys	coding	Pathogenic/Likely_pathogenic
2	74093625	G	A	G74093625A	TET3	NM_001287491.2(TET3):c.3226G>A:p.Ala1076Thr	coding	Pathogenic/Likely_pathogenic
2	74101747	C	T	C74101747T	TET3	NM_001287491.2(TET3):c.4959C>T:p.Gly1653=	coding	Benign
2	74101871	C	T	C74101871T	TET3	NM_001287491.2(TET3):c.5083C>T:p.Gln1695Ter	coding	Pathogenic/Likely_pathogenic
2	74101960	G	A	G74101960A	TET3	NM_001287491.2(TET3):c.5172G>A:p.Gln1724=	coding	Benign
2	74135676	A	C	A74135676C	BOLA3	NM_212552.3(BOLA3):c.259-18T>G	noncoding	Benign
2	74135863	T	A	T74135863A	BOLA3	NM_212552.3(BOLA3):c.259-205A>T	noncoding	Benign
2	74142024	A	T	A74142024T	BOLA3	NM_212552.3(BOLA3):c.258+248T>A	noncoding	Benign
2	74142263	T	G	T74142263G	BOLA3	NM_212552.3(BOLA3):c.258+9A>C	noncoding	Benign/Likely_benign
2	74142330	A	T	A74142330T	BOLA3	NM_212552.3(BOLA3):c.200T>A:p.Ile67Asn	coding	Pathogenic
2	74144868	G	A	G74144868A	BOLA3	NM_212552.3(BOLA3):c.169+321C>T	noncoding	Benign
2	74145048	G	A	G74145048A	BOLA3	NM_212552.3(BOLA3):c.169+141C>T	noncoding	Benign
2	74145222	G	A	G74145222A	BOLA3	NM_212552.3(BOLA3):c.136C>T:p.Arg46Ter	coding	Pathogenic
2	74145551	A	C	A74145551C	BOLA3	NM_212552.3(BOLA3):c.55-248T>G	noncoding	Benign
2	74147514	C	T	C74147514T	BOLA3	NM_212552.3(BOLA3):c.54+307G>A	noncoding	Benign
2	74147830	C	A	C74147830A	BOLA3	NM_212552.3(BOLA3):c.45G>T:p.Gly15=	coding	Benign
2	74231293	G	A	G74231293A	SLC4A5	NM_133478.3(SLC4A5):c.2790C>T:p.Thr930=	coding	Benign
2	74361332	G	A	G74361332A	DCTN1	NM_004082.4(DCTN1):c.*167C>T	noncoding	Benign
2	74361377	T	G	T74361377G	DCTN1	NM_004082.4(DCTN1):c.*122A>C	noncoding	Benign
2	74361442	G	A	G74361442A	DCTN1	NM_004082.4(DCTN1):c.*57C>T	noncoding	Benign
2	74361478	G	A	G74361478A	DCTN1	NM_004082.4(DCTN1):c.*21C>T	noncoding	Benign
2	74361537	C	G	C74361537G	DCTN1	NM_004082.5(DCTN1):c.3799G>C:p.Glu1267Gln	coding	Benign
2	74361554	C	T	C74361554T	DCTN1	NM_004082.4(DCTN1):c.3782G>A:p.Arg1261Gln	coding	Benign/Likely_benign
2	74361590	G	A	G74361590A	DCTN1	NM_004082.4(DCTN1):c.3746C>T:p.Thr1249Ile	coding	Benign/Likely_benign
2	74362108	G	C	G74362108C	DCTN1	NM_004082.4(DCTN1):c.3643C>G:p.Pro1215Ala	coding	Benign/Likely_benign
2	74362161	G	C	G74362161C	DCTN1	NM_004082.4(DCTN1):c.3610-20C>G	noncoding	Benign
2	74362665	G	A	G74362665A	DCTN1	NM_004082.4(DCTN1):c.3594C>T:p.Thr1198=	coding	Benign
2	74362686	C	T	C74362686T	DCTN1	NM_004082.4(DCTN1):c.3573G>A:p.Gln1191=	coding	Benign
2	74362713	C	T	C74362713T	DCTN1	NM_004082.4(DCTN1):c.3546G>A:p.Ser1182=	coding	Benign
2	74362986	G	A	G74362986A	DCTN1	NM_004082.4(DCTN1):c.3529+8C>T	noncoding	Benign
2	74363004	G	A	G74363004A	DCTN1	NM_004082.4(DCTN1):c.3519C>T:p.Arg1173=	coding	Benign
2	74363025	C	T	C74363025T	DCTN1	NM_004082.4(DCTN1):c.3498G>A:p.Thr1166=	coding	Benign
2	74363033	T	C	T74363033C	DCTN1	NM_004082.4(DCTN1):c.3490A>G:p.Thr1164Ala	coding	Benign/Likely_benign
2	74363045	T	G	T74363045G	DCTN1	NM_004082.4(DCTN1):c.3478A>C:p.Asn1160His	coding	Benign
2	74363281	G	A	G74363281A	DCTN1	NM_004082.5(DCTN1):c.3345+13C>T	noncoding	Benign/Likely_benign
2	74365592	G	C	G74365592C	DCTN1	NM_004082.4(DCTN1):c.2952C>G:p.Ala984=	coding	Benign/Likely_benign
2	74365974	G	C	G74365974C	DCTN1	NM_004082.4(DCTN1):c.2805C>G:p.Ile935Met	coding	Benign/Likely_benign
2	74365985	G	A	G74365985A	DCTN1	NM_004082.5(DCTN1):c.2794C>T:p.Arg932Cys	coding	Benign
2	74366031	C	T	C74366031T	DCTN1	NM_004082.5(DCTN1):c.2761-13G>A	noncoding	Benign
2	74366355	G	A	G74366355A	DCTN1	NM_004082.4(DCTN1):c.2649C>T:p.Ser883=	coding	Benign
2	74366358	G	A	G74366358A	DCTN1	NM_004082.4(DCTN1):c.2646C>T:p.Ser882=	coding	Benign/Likely_benign
2	74366582	C	T	C74366582T	DCTN1	NM_004082.4(DCTN1):c.2505G>A:p.Thr835=	coding	Benign/Likely_benign
2	74366801	T	C	T74366801C	DCTN1	NM_004082.4(DCTN1):c.2448A>G:p.Ala816=	coding	Benign
2	74366817	G	C	G74366817C	DCTN1	NM_004082.4(DCTN1):c.2432C>G:p.Pro811Arg	coding	Benign/Likely_benign
2	74367103	G	A	G74367103A	DCTN1	NM_004082.4(DCTN1):c.2258C>T:p.Thr753Met	coding	Benign/Likely_benign
2	74367392	T	C	T74367392C	DCTN1	NM_004082.4(DCTN1):c.2213A>G:p.Gln738Arg	coding	Benign
2	74367744	A	G	A74367744G	DCTN1	NM_004082.4(DCTN1):c.2136T>C:p.Asp712=	coding	Benign
2	74367861	G	A	G74367861A	DCTN1	NM_004082.4(DCTN1):c.2019C>T:p.Ala673=	coding	Benign/Likely_benign
2	74367887	G	A	G74367887A	DCTN1	NM_004082.4(DCTN1):c.2016-23C>T	noncoding	Benign
2	74367988	C	T	C74367988T	DCTN1	NM_004082.4(DCTN1):c.1998G>A:p.Thr666=	coding	Benign
2	74368760	C	T	C74368760T	DCTN1	NM_004082.4(DCTN1):c.1822G>A:p.Val608Met	coding	Benign
2	74368887	G	A	G74368887A	DCTN1	NM_004082.4(DCTN1):c.1702-7C>T	noncoding	Benign
2	74369182	T	C	T74369182C	DCTN1	NM_004082.4(DCTN1):c.1617A>G:p.Glu539=	coding	Benign
2	74369194	T	C	T74369194C	DCTN1	NM_004082.4(DCTN1):c.1605A>G:p.Thr535=	coding	Benign
2	74369380	G	T	G74369380T	DCTN1	NM_004082.4(DCTN1):c.1504C>A:p.Arg502Ser	coding	Benign/Likely_benign
2	74370072	G	A	G74370072A	DCTN1	NM_004082.4(DCTN1):c.1288-3C>T	noncoding	Benign
2	74370498	C	T	C74370498T	DCTN1	NM_004082.4(DCTN1):c.1095G>A:p.Glu365=	coding	Benign
2	74370670	G	A	G74370670A	DCTN1	NM_004082.4(DCTN1):c.999C>T:p.Asp333=	coding	Benign
2	74370670	G	C	G74370670C	DCTN1	NM_004082.4(DCTN1):c.999C>G:p.Asp333Glu	coding	Benign/Likely_benign
2	74370810	G	T	G74370810T	DCTN1	NM_004082.4(DCTN1):c.859C>A:p.Leu287Met	coding	Benign
2	74370811	C	A	C74370811A	DCTN1	NM_004082.4(DCTN1):c.858G>T:p.Ala286=	coding	Benign
2	74371012	G	C	G74371012C	DCTN1	NM_004082.4(DCTN1):c.810C>G:p.Ala270=	coding	Benign
2	74371034	C	A	C74371034A	DCTN1	NM_004082.4(DCTN1):c.788G>T:p.Ser263Ile	coding	Benign/Likely_benign
2	74371191	C	T	C74371191T	DCTN1	NM_004082.4(DCTN1):c.646-15G>A	noncoding	Benign
2	74371555	C	A	C74371555A	DCTN1	NM_004082.4(DCTN1):c.627G>T:p.Pro209=	coding	Benign
2	74371585	C	T	C74371585T	DCTN1	NM_004082.4(DCTN1):c.597G>A:p.Pro199=	coding	Benign/Likely_benign
2	74371612	C	T	C74371612T	DCTN1	NM_004082.4(DCTN1):c.570G>A:p.Pro190=	coding	Benign/Likely_benign
2	74371624	C	T	C74371624T	DCTN1	NM_004082.4(DCTN1):c.558G>A:p.Pro186=	coding	Benign/Likely_benign
2	74377768	T	C	T74377768C	DCTN1	NM_004082.4(DCTN1):c.280-42A>G	noncoding	Benign
2	74377992	G	A	G74377992A	DCTN1	NM_004082.4(DCTN1):c.279+8C>T	noncoding	Benign/Likely_benign
2	74378046	T	C	T74378046C	DCTN1	NM_004082.4(DCTN1):c.233A>G:p.Tyr78Cys	coding	Pathogenic
2	74378058	T	G	T74378058G	DCTN1	NM_004082.4(DCTN1):c.221A>C:p.Gln74Pro	coding	Pathogenic
2	74378065	T	G	T74378065G	DCTN1	NM_004082.4(DCTN1):c.214A>C:p.Thr72Pro	coding	Pathogenic
2	74378067	C	G	C74378067G	DCTN1	NM_004082.4(DCTN1):c.212G>C:p.Gly71Ala	coding	Pathogenic
2	74378067	C	T	C74378067T	DCTN1	NM_004082.4(DCTN1):c.212G>A:p.Gly71Glu	coding	Pathogenic
2	74378068	C	T	C74378068T	DCTN1	NM_004082.4(DCTN1):c.211G>A:p.Gly71Arg	coding	Pathogenic
2	74378079	C	T	C74378079T	DCTN1	NM_004082.4(DCTN1):c.200G>A:p.Gly67Asp	coding	Pathogenic
2	74378104	C	T	C74378104T	DCTN1	NM_004082.4(DCTN1):c.175G>A:p.Gly59Ser	coding	Pathogenic
2	74378123	A	C	A74378123C	DCTN1	NM_004082.4(DCTN1):c.156T>G:p.Phe52Leu	coding	Pathogenic
2	74378185	G	A	G74378185A	DCTN1	NM_004082.5(DCTN1):c.94C>T:p.Arg32Cys	coding	Benign
2	74378207	G	A	G74378207A	DCTN1	NM_004082.4(DCTN1):c.72C>T:p.Ala24=	coding	Benign
2	74378256	C	A	C74378256A	DCTN1	NM_004082.4(DCTN1):c.34-11G>T	noncoding	Benign
2	74430655	C	T	C74430655T	RTKN	NM_001015055.2(RTKN):c.334G>A:p.Ala112Thr	coding	Benign
2	74461436	C	T	C74461436T	MOGS	NM_006302.3(MOGS):c.2353G>A:p.Gly785Ser	coding	Benign
2	74461677	G	A	G74461677A	MOGS	NM_006302.3(MOGS):c.2112C>T:p.Pro704=	coding	Benign
2	74461757	G	A	G74461757A	MOGS	NM_006302.3(MOGS):c.2032C>T:p.Arg678Trp	coding	Benign
2	74461772	C	T	C74461772T	MOGS	NM_006302.3(MOGS):c.2017G>A:p.Val673Ile	coding	Benign
2	74461835	A	G	A74461835G	MOGS	NM_006302.3(MOGS):c.1954T>C:p.Phe652Leu	coding	Pathogenic
2	74461845	C	T	C74461845T	MOGS	NM_006302.3(MOGS):c.1944G>A:p.Glu648=	coding	Benign/Likely_benign
2	74461951	C	T	C74461951T	MOGS	NM_006302.3(MOGS):c.1838G>A:p.Arg613Gln	coding	Benign/Likely_benign
2	74461988	G	A	G74461988A	MOGS	NM_006302.3(MOGS):c.1801C>T:p.Arg601Ter	coding	Pathogenic
2	74462202	G	A	G74462202A	MOGS	NM_006302.3(MOGS):c.1587C>T:p.Asp529=	coding	Benign/Likely_benign
2	74462332	C	G	C74462332G	MOGS	NM_006302.3(MOGS):c.1457G>C:p.Arg486Thr	coding	Pathogenic
2	74462544	G	C	G74462544C	MOGS	NM_006302.3(MOGS):c.1245C>G:p.Ile415Met	coding	Benign
2	74462895	G	A	G74462895A	MOGS	NM_006302.3(MOGS):c.894C>T:p.Leu298=	coding	Benign
2	74462908	G	A	G74462908A	MOGS	NM_006302.3(MOGS):c.881C>T:p.Pro294Leu	coding	Benign/Likely_benign
2	74462912	G	A	G74462912A	MOGS	NM_006302.3(MOGS):c.877C>T:p.Pro293Ser	coding	Benign
2	74462913	G	T	G74462913T	MOGS	NM_006302.3(MOGS):c.876C>A:p.Ala292=	coding	Benign
2	74463251	C	T	C74463251T	MOGS	NM_006302.3(MOGS):c.715G>A:p.Asp239Asn	coding	Benign
2	74464705	G	A	G74464705A	MOGS	NM_006302.3(MOGS):c.370C>T:p.Gln124Ter	coding	Pathogenic
2	74465064	C	T	C74465064T	MOGS	NM_006302.3(MOGS):c.184G>A:p.Val62Met	coding	Benign
2	74465163	G	C	G74465163C	MOGS	NM_006302.3(MOGS):c.85C>G:p.Arg29Gly	coding	Benign/Likely_benign
2	74465236	G	C	G74465236C	MOGS	NM_006302.3(MOGS):c.12C>G:p.Gly4=	coding	Benign/Likely_benign
2	74499487	T	A	T74499487A	LBX2	NM_001282430.2(LBX2):c.51A>T:p.Ala17=	coding	Benign
2	74515055	C	G	C74515055G	TLX2	NM_016170.5(TLX2):c.249C>G:p.Val83=	coding	Benign
2	74516012	C	T	C74516012T	TLX2	NM_016170.5(TLX2):c.678C>T:p.Arg226=	coding	Benign
2	74529421	G	C	G74529421C	HTRA2	NM_181575.5(AUP1):c.129C>G:p.Leu43=	coding	Benign
2	74529861	G	A	G74529861A	HTRA2	NM_013247.4(HTRA2):c.-146G>A	noncoding	Benign
2	74530427	G	T	G74530427T	HTRA2	NM_013247.4(HTRA2):c.421G>T:p.Ala141Ser	coding	Benign
2	74530486	C	G	C74530486G	HTRA2	NM_013247.4(HTRA2):c.480C>G:p.Ala160=	coding	Benign
2	74530608	C	T	C74530608T	HTRA2	NM_013247.4(HTRA2):c.507-9C>T	noncoding	Benign
2	74531106	G	C	G74531106C	HTRA2	NM_013247.4(HTRA2):c.906+1G>C	coding	Pathogenic
2	74531539	G	A	G74531539A	HTRA2	NM_013247.4(HTRA2):c.940-58G>A	noncoding	Benign
2	74531807	G	A	G74531807A	HTRA2	NM_013247.4(HTRA2):c.1046-49G>A	noncoding	Benign
2	74532698	G	A	G74532698A	HTRA2	NM_032603.5(LOXL3):c.*908C>T	coding	Benign/Likely_benign
2	74532714	G	A	G74532714A	HTRA2	NM_032603.5(LOXL3):c.*892C>T	coding	Pathogenic
2	74533079	C	T	C74533079T	HTRA2	NM_032603.5(LOXL3):c.*527G>A	noncoding	Benign
2	74533369	C	A	C74533369A	HTRA2	NM_032603.5(LOXL3):c.*237G>T	noncoding	Benign
2	74533428	T	A	T74533428A	HTRA2	NM_032603.5(LOXL3):c.*178A>T	noncoding	Benign
2	74533516	A	G	A74533516G	HTRA2	NM_032603.5(LOXL3):c.*90T>C	noncoding	Benign
2	74534412	T	A	T74534412A	LOXL3	NM_032603.5(LOXL3):c.1843A>T:p.Ile615Phe	coding	Benign
2	74536120	C	T	C74536120T	LOXL3	NM_032603.5(LOXL3):c.1124G>A:p.Arg375His	coding	Benign
2	74536323	C	T	C74536323T	LOXL3	NM_032603.5(LOXL3):c.1061G>A:p.Arg354Gln	coding	Benign
2	74536467	C	T	C74536467T	LOXL3	NM_032603.5(LOXL3):c.917G>A:p.Arg306His	coding	Benign
2	74550345	C	A	C74550345A	LOXL3	NM_032603.5(LOXL3):c.317G>T:p.Arg106Leu	coding	Benign
2	74552556	G	C	G74552556C	LOXL3	NM_032603.5(LOXL3):c.79C>G:p.Pro27Ala	coding	Benign/Likely_benign
2	74558875	C	T	C74558875T	M1AP	NM_138804.5(M1AP):c.1435-1G>A	coding	Pathogenic
2	74877202	G	A	G74877202A	HK2	NM_000189.5(HK2):c.912G>A:p.Glu304=	coding	Benign
2	74880544	C	T	C74880544T	HK2	NM_000189.5(HK2):c.1545C>T:p.Tyr515=	coding	Benign
2	74958847	G	A	G74958847A	POLE4	NM_019896.4(POLE4):c.168G>A:p.Val56=	coding	Benign
2	75671975	T	C	T75671975C	GCFC2	NM_003203.5(GCFC2):c.1931A>G:p.Glu644Gly	coding	Benign
2	79027078	C	T	C79027078T	REG3G	NM_001008387.3(REG3G):c.240C>T:p.Leu80=	coding	Benign
2	79027823	G	A	G79027823A	REG3G	NM_001008387.3(REG3G):c.350G>A:p.Gly117Glu	coding	Benign
2	79120891	G	C	G79120891C	REG1A	NM_002909.5(REG1A):c.30G>C:p.Leu10=	coding	Benign
2	79123164	G	A	G79123164A	REG1A	NM_002909.5(REG1A):c.450G>A:p.Lys150=	coding	Benign
2	79157582	C	T	C79157582T	REG3A	NM_002580.3(REG3A):c.450G>A:p.Ser150=	coding	Benign
2	79159337	C	T	C79159337T	REG3A	NM_002580.3(REG3A):c.69G>A:p.Gln23=	coding	Benign
2	79858113	G	A	G79858113A	CTNNA2	NM_001164883.1(CTNNA2):c.399G>A:p.Ala133=	coding	Benign
2	80302808	C	T	C80302808T	LRRTM1	NM_178839.5(LRRTM1):c.1012G>A:p.Gly338Ser	coding	Benign
2	80393245	T	C	T80393245C	CTNNA2	NM_001164883.1(CTNNA2):c.1091T>C:p.Ile364Thr	coding	Benign
2	80419535	C	T	C80419535T	CTNNA2	NM_001164883.1(CTNNA2):c.1224C>T:p.Ser408=	coding	Benign
2	80546003	C	T	C80546003T	CTNNA2	NM_004389.3(CTNNA2):c.1480C>T:p.Arg494Ter	coding	Pathogenic
2	80555751	G	A	G80555751A	CTNNA2	NM_001164883.1(CTNNA2):c.1599G>A:p.Val533=	coding	Benign
2	80555763	C	T	C80555763T	CTNNA2	NM_001164883.1(CTNNA2):c.1611C>T:p.Asp537=	coding	Benign
2	80581744	G	A	G80581744A	CTNNA2	NM_001164883.1(CTNNA2):c.1932G>A:p.Gln644=	coding	Benign
2	80608229	C	T	C80608229T	CTNNA2	NM_001164883.1(CTNNA2):c.2295+4050C>T	coding	Pathogenic
2	80647798	C	T	C80647798T	CTNNA2	NM_004389.3(CTNNA2):c.2644C>T:p.Arg882Ter	coding	Pathogenic
2	84423539	T	C	T84423539C	SUCLG1	NM_003849.4(SUCLG1):c.*207A>G	noncoding	Benign/Likely_benign
2	84423583	A	G	A84423583G	SUCLG1	NM_003849.4(SUCLG1):c.*163T>C	noncoding	Benign
2	84433116	G	A	G84433116A	SUCLG1	NM_003849.4(SUCLG1):c.673+236C>T	noncoding	Benign
2	84433398	T	G	T84433398G	SUCLG1	NM_003849.4(SUCLG1):c.627A>C:p.Ala209=	coding	Benign/Likely_benign
2	84433442	G	A	G84433442A	SUCLG1	NM_003849.4(SUCLG1):c.590-7C>T	noncoding	Benign/Likely_benign
2	84440740	C	T	C84440740T	SUCLG1	NM_003849.4(SUCLG1):c.589+307G>A	noncoding	Benign
2	84441031	T	C	T84441031C	SUCLG1	NM_003849.4(SUCLG1):c.589+16A>G	noncoding	Benign
2	84441088	A	G	A84441088G	SUCLG1	NM_003849.4(SUCLG1):c.548T>C:p.Ile183Thr	coding	Pathogenic
2	84441269	G	C	G84441269C	SUCLG1	NM_003849.4(SUCLG1):c.509C>G:p.Pro170Arg	coding	Pathogenic
2	84441330	G	A	G84441330A	SUCLG1	NM_003849.4(SUCLG1):c.448C>T:p.Gln150Ter	coding	Pathogenic
2	84443293	A	G	A84443293G	SUCLG1	NM_003849.4(SUCLG1):c.309T>C:p.Thr103=	coding	Benign
2	84443311	G	A	G84443311A	SUCLG1	NM_003849.4(SUCLG1):c.291C>T:p.Gly97=	coding	Benign/Likely_benign
2	84443348	C	G	C84443348G	SUCLG1	NM_003849.4(SUCLG1):c.254G>C:p.Gly85Ala	coding	Pathogenic
2	84449640	T	C	T84449640C	SUCLG1	NM_003849.4(SUCLG1):c.201+9A>G	noncoding	Benign/Likely_benign
2	84449648	C	A	C84449648A	SUCLG1	NM_003849.4(SUCLG1):c.201+1G>T	noncoding	Pathogenic
2	84450016	A	G	A84450016G	SUCLG1	NM_003849.4(SUCLG1):c.98-264T>C	noncoding	Benign
2	84459170	C	G	C84459170G	SUCLG1	NM_003849.4(SUCLG1):c.97+3G>C	noncoding	Pathogenic
2	84459230	T	A	T84459230A	SUCLG1	NM_003849.4(SUCLG1):c.40A>T:p.Met14Leu	coding	Pathogenic
2	84459486	A	G	A84459486G	SUCLG1	NM_003849.3(SUCLG1):c.-217T>C	noncoding	Benign
2	84459633	A	G	A84459633G	SUCLG1	NC_000002.12:g.84459633A>G	noncoding	Benign
2	84517989	C	T	C84517989T	DNAH6	NM_001370.2(DNAH6):c.163C>T:p.His55Tyr	coding	Benign
2	84525660	A	C	A84525660C	DNAH6	NM_001370.2(DNAH6):c.321A>C:p.Pro107=	coding	Benign
2	84528925	G	A	G84528925A	DNAH6	NM_001370.2(DNAH6):c.421G>A:p.Val141Met	coding	Benign
2	84544356	G	A	G84544356A	DNAH6	NM_001370.2(DNAH6):c.786G>A:p.Leu262=	coding	Benign
2	84544443	C	T	C84544443T	DNAH6	NM_001370.2(DNAH6):c.873C>T:p.Ser291=	coding	Benign
2	84573481	C	A	C84573481A	DNAH6	NM_001370.2(DNAH6):c.1818C>A:p.Ala606=	coding	Benign
2	84588891	A	G	A84588891G	DNAH6	NM_001370.2(DNAH6):c.2547A>G:p.Gln849=	coding	Benign
2	84604362	G	A	G84604362A	DNAH6	NM_001370.2(DNAH6):c.2892G>A:p.Arg964=	coding	Benign
2	84621328	C	T	C84621328T	DNAH6	NM_001370.2(DNAH6):c.3930C>T:p.Asp1310=	coding	Benign
2	84624887	C	T	C84624887T	DNAH6	NM_001370.2(DNAH6):c.4354-15C>T	noncoding	Benign
2	84634599	C	T	C84634599T	DNAH6	NM_001370.2(DNAH6):c.4611C>T:p.Ile1537=	coding	Benign
2	84637344	G	C	G84637344C	DNAH6	NM_001370.2(DNAH6):c.4788G>C:p.Ala1596=	coding	Benign
2	84637385	T	C	T84637385C	DNAH6	NM_001370.2(DNAH6):c.4821+8T>C	noncoding	Benign
2	84653321	G	C	G84653321C	DNAH6	NM_001370.2(DNAH6):c.5081G>C:p.Gly1694Ala	coding	Benign
2	84669294	C	A	C84669294A	DNAH6	NM_001370.2(DNAH6):c.6090C>A:p.Pro2030=	coding	Benign
2	84670377	A	G	A84670377G	DNAH6	NM_001370.2(DNAH6):c.6356A>G:p.Tyr2119Cys	coding	Benign
2	84670393	A	G	A84670393G	DNAH6	NM_001370.2(DNAH6):c.6372A>G:p.Leu2124=	coding	Benign
2	84688599	G	A	G84688599A	DNAH6	NM_001370.2(DNAH6):c.7292+6G>A	noncoding	Benign
2	84694309	A	G	A84694309G	DNAH6	NM_001370.2(DNAH6):c.7353A>G:p.Thr2451=	coding	Benign
2	84697659	G	C	G84697659C	DNAH6	NM_001370.2(DNAH6):c.7609G>C:p.Glu2537Gln	coding	Benign
2	84697699	T	C	T84697699C	DNAH6	NM_001370.2(DNAH6):c.7649T>C:p.Val2550Ala	coding	Benign
2	84699632	G	A	G84699632A	DNAH6	NM_001370.2(DNAH6):c.7716G>A:p.Leu2572=	coding	Benign
2	84705712	G	A	G84705712A	DNAH6	NM_001370.2(DNAH6):c.8692G>A:p.Val2898Ile	coding	Benign
2	84705742	G	A	G84705742A	DNAH6	NM_001370.2(DNAH6):c.8722G>A:p.Ala2908Thr	coding	Benign
2	84718345	G	A	G84718345A	DNAH6	NM_001370.2(DNAH6):c.9753G>A:p.Leu3251=	coding	Benign
2	84722639	C	T	C84722639T	DNAH6	NM_001370.2(DNAH6):c.9807C>T:p.Ala3269=	coding	Benign
2	84733470	C	G	C84733470G	DNAH6	NM_001370.2(DNAH6):c.10233C>G:p.Pro3411=	coding	Benign/Likely_benign
2	84745077	C	T	C84745077T	DNAH6	NM_001370.2(DNAH6):c.10343-3C>T	noncoding	Benign
2	84796430	A	G	A84796430G	DNAH6	NM_001370.2(DNAH6):c.11359+5A>G	noncoding	Benign
2	84797607	C	T	C84797607T	DNAH6	NM_001370.2(DNAH6):c.11430C>T:p.Ile3810=	coding	Benign
2	84805725	G	A	G84805725A	DNAH6	NM_001370.2(DNAH6):c.11542G>A:p.Gly3848Ser	coding	Benign
2	84805745	T	C	T84805745C	DNAH6	NM_001370.2(DNAH6):c.11562T>C:p.Asn3854=	coding	Benign
2	84813138	C	T	C84813138T	DNAH6	NM_001370.2(DNAH6):c.11998+8C>T	noncoding	Benign
2	84813139	G	A	G84813139A	DNAH6	NM_001370.2(DNAH6):c.11998+9G>A	noncoding	Benign
2	84816001	A	G	A84816001G	DNAH6	NM_001370.2(DNAH6):c.12291A>G:p.Gln4097=	coding	Benign
2	84819312	A	C	A84819312C	DNAH6	NM_001370.2(DNAH6):c.12381A>C:p.Ser4127=	coding	Benign
2	84819350	G	A	G84819350A	DNAH6	NM_001370.2(DNAH6):c.12419G>A:p.Arg4140Gln	coding	Benign
2	84819402	C	T	C84819402T	DNAH6	NM_001370.2(DNAH6):c.12471C>T:p.Ser4157=	coding	Benign
2	85049523	C	T	C85049523T	KCMF1	NM_020122.5(KCMF1):c.759C>T:p.Asn253=	coding	Benign
2	85053283	T	C	T85053283C	KCMF1	NM_020122.5(KCMF1):c.1020T>C:p.Asp340=	coding	Benign
2	85283531	T	A	T85283531A	TCF7L1	NM_031283.3(TCF7L1):c.478T>A:p.Ser160Thr	coding	Benign
2	85343265	G	T	G85343265T	RETSAT	NM_017750.4(RETSAT):c.1810C>A:p.Arg604=	coding	Benign
2	85344309	C	T	C85344309T	RETSAT	NM_017750.4(RETSAT):c.1296G>A:p.Ala432=	coding	Benign
2	85344310	G	A	G85344310A	RETSAT	NM_017750.4(RETSAT):c.1295C>T:p.Ala432Val	coding	Benign
2	85350059	G	A	G85350059A	RETSAT	NM_017750.4(RETSAT):c.780C>T:p.Ser260=	coding	Benign
2	85354463	G	A	G85354463A	RETSAT	NM_017750.4(RETSAT):c.45C>T:p.Ala15=	coding	Benign
2	85363163	C	T	C85363163T	ELMOD3	NM_001135022.2(ELMOD3):c.196C>T:p.Arg66Cys	coding	Benign
2	85368695	C	T	C85368695T	ELMOD3	NM_001135022.2(ELMOD3):c.209C>T:p.Thr70Ile	coding	Benign
2	85369783	A	G	A85369783G	ELMOD3	NM_001135022.2(ELMOD3):c.313A>G:p.Ser105Gly	coding	Benign
2	85371504	C	T	C85371504T	ELMOD3	NM_001135022.2(ELMOD3):c.549C>T:p.Thr183=	coding	Benign/Likely_benign
2	85371517	G	A	G85371517A	ELMOD3	NM_001135022.2(ELMOD3):c.562G>A:p.Asp188Asn	coding	Benign
2	85389806	T	C	T85389806C	ELMOD3	NM_001135022.2(ELMOD3):c.794T>C:p.Leu265Ser	coding	Pathogenic
2	85390187	G	A	G85390187A	ELMOD3	NM_001135022.2(ELMOD3):c.865G>A:p.Ala289Thr	coding	Benign/Likely_benign
2	85390204	C	T	C85390204T	ELMOD3	NM_001135022.2(ELMOD3):c.882C>T:p.His294=	coding	Benign
2	85390417	C	G	C85390417G	ELMOD3	NM_001135022.2(ELMOD3):c.943+152C>G	coding	Benign
2	85390456	C	T	C85390456T	ELMOD3	NM_001135022.2(ELMOD3):c.943+191C>T	coding	Benign
2	85390845	C	A	C85390845A	ELMOD3	NM_001135022.2(ELMOD3):c.1029C>A:p.Ala343=	coding	Benign
2	85398051	G	A	G85398051A	CAPG	NM_001747.4(CAPG):c.861C>T:p.Asn287=	coding	Benign
2	85398769	T	C	T85398769C	CAPG	NM_001747.4(CAPG):c.680A>G:p.Lys227Arg	coding	Benign
2	85539422	C	T	C85539422T	MAT2A	NM_005911.6(MAT2A):c.91+44C>T	noncoding	Benign
2	85541099	A	G	A85541099G	MAT2A	NM_005911.6(MAT2A):c.108A>G:p.Gln36=	coding	Benign/Likely_benign
2	85541207	A	G	A85541207G	MAT2A	NM_005911.6(MAT2A):c.169+47A>G	noncoding	Benign
2	85541447	G	A	G85541447A	MAT2A	NM_005911.6(MAT2A):c.292+70G>A	noncoding	Benign
2	85541658	G	T	G85541658T	MAT2A	NM_005911.6(MAT2A):c.318G>T:p.Val106=	coding	Benign/Likely_benign
2	85541810	G	A	G85541810A	MAT2A	NM_005911.6(MAT2A):c.406-19G>A	noncoding	Benign
2	85541861	T	C	T85541861C	MAT2A	NM_005911.6(MAT2A):c.438T>C:p.Thr146=	coding	Benign/Likely_benign
2	85541924	A	G	A85541924G	MAT2A	NM_005911.6(MAT2A):c.501A>G:p.Leu167=	coding	Benign/Likely_benign
2	85542123	G	A	G85542123A	MAT2A	NM_005911.6(MAT2A):c.550-32G>A	noncoding	Benign
2	85542588	C	G	C85542588G	MAT2A	NM_005911.6(MAT2A):c.792C>G:p.Arg264=	coding	Benign
2	85542609	T	C	T85542609C	MAT2A	NM_005911.6(MAT2A):c.813T>C:p.Tyr271=	coding	Benign
2	85542852	A	G	A85542852G	MAT2A	NM_005911.6(MAT2A):c.952-49A>G	noncoding	Benign
2	85545094	A	G	A85545094G	GGCX	NM_000821.7(GGCX):c.*4840T>C	noncoding	Benign
2	85545505	C	T	C85545505T	GGCX	NM_000821.7(GGCX):c.*4429G>A	noncoding	Benign
2	85546129	T	C	T85546129C	GGCX	NM_000821.7(GGCX):c.*3805A>G	noncoding	Benign
2	85546863	A	G	A85546863G	GGCX	NM_000821.7(GGCX):c.*3071T>C	noncoding	Benign
2	85546881	T	C	T85546881C	GGCX	NM_000821.7(GGCX):c.*3053A>G	noncoding	Benign
2	85546887	C	T	C85546887T	GGCX	NM_000821.7(GGCX):c.*3047G>A	noncoding	Benign
2	85546960	C	T	C85546960T	GGCX	NM_000821.7(GGCX):c.*2974G>A	noncoding	Benign
2	85546985	G	A	G85546985A	GGCX	NM_000821.7(GGCX):c.*2949C>T	noncoding	Benign
2	85547553	G	A	G85547553A	GGCX	NM_000821.7(GGCX):c.*2381C>T	noncoding	Benign
2	85548885	A	T	A85548885T	GGCX	NM_000821.7(GGCX):c.*1049T>A	noncoding	Benign
2	85549032	A	G	A85549032G	GGCX	NM_000821.7(GGCX):c.*902T>C	noncoding	Benign
2	85549709	C	T	C85549709T	GGCX	NM_000821.7(GGCX):c.*225G>A	noncoding	Benign
2	85551007	G	C	G85551007C	GGCX	NM_000821.7(GGCX):c.1806C>G:p.Val602=	coding	Benign
2	85551548	C	T	C85551548T	GGCX	NM_000821.7(GGCX):c.1672G>A:p.Gly558Arg	coding	Pathogenic
2	85551841	G	A	G85551841A	GGCX	NM_000821.7(GGCX):c.1580C>T:p.Thr527Ile	coding	Benign
2	85551919	C	G	C85551919G	GGCX	NM_000821.7(GGCX):c.1502G>C:p.Trp501Ser	coding	Pathogenic
2	85551927	G	A	G85551927A	GGCX	NM_000821.7(GGCX):c.1494C>T:p.Arg498=	coding	Benign
2	85551943	C	G	C85551943G	GGCX	NM_000821.7(GGCX):c.1478G>C:p.Trp493Ser	coding	Pathogenic
2	85551967	C	G	C85551967G	GGCX	NM_000821.7(GGCX):c.1454G>C:p.Arg485Pro	coding	Pathogenic
2	85552428	C	T	C85552428T	GGCX	NM_000821.7(GGCX):c.1427G>A:p.Arg476His	coding	Pathogenic
2	85552429	G	A	G85552429A	GGCX	NM_000821.7(GGCX):c.1426C>T:p.Arg476Cys	coding	Pathogenic
2	85552984	G	A	G85552984A	GGCX	NM_000821.7(GGCX):c.1242C>T:p.Thr414=	coding	Benign
2	85553008	G	A	G85553008A	GGCX	NM_000821.7(GGCX):c.1218C>T:p.Arg406=	coding	Benign
2	85553045	A	C	A85553045C	GGCX	NM_000821.7(GGCX):c.1181T>G:p.Leu394Arg	coding	Pathogenic
2	85553267	G	A	G85553267A	GGCX	NM_000821.7(GGCX):c.1120C>T:p.Gln374Ter	coding	Pathogenic
2	85553413	C	T	C85553413T	GGCX	NM_000821.7(GGCX):c.974G>A:p.Arg325Gln	coding	Benign
2	85553488	G	A	G85553488A	GGCX	NM_000821.7(GGCX):c.899C>T:p.Ser300Phe	coding	Pathogenic
2	85553491	A	G	A85553491G	GGCX	NM_000821.7(GGCX):c.896T>C:p.Phe299Ser	coding	Pathogenic
2	85554195	G	T	G85554195T	GGCX	NM_000821.7(GGCX):c.837C>A:p.Gly279=	coding	Benign
2	85554269	C	T	C85554269T	GGCX	NM_000821.7(GGCX):c.763G>A:p.Val255Met	coding	Pathogenic
2	85556218	G	A	G85556218A	GGCX	NM_000821.7(GGCX):c.582C>T:p.His194=	coding	Benign/Likely_benign
2	85558463	T	C	T85558463C	GGCX	NM_000821.7(GGCX):c.516A>G:p.Thr172=	coding	Benign
2	85558951	G	A	G85558951A	GGCX	NM_000821.7(GGCX):c.339C>T:p.Asp113=	coding	Benign
2	85559076	C	A	C85559076A	GGCX	NM_000821.7(GGCX):c.215-1G>T	coding	Pathogenic
2	85560938	C	T	C85560938T	GGCX	NM_000821.7(GGCX):c.91G>A:p.Asp31Asn	coding	Benign
2	85658845	G	A	G85658845A	SFTPB	NM_000542.5(SFTPB):c.*857C>T	noncoding	Benign
2	85661536	C	T	C85661536T	SFTPB	NM_000542.5(SFTPB):c.1084-1G>A	coding	Pathogenic
2	85662083	C	T	C85662083T	SFTPB	NM_000542.5(SFTPB):c.1029G>A:p.Thr343=	coding	Benign/Likely_benign
2	85663648	T	G	T85663648G	SFTPB	NM_000542.5(SFTPB):c.856+16A>C	noncoding	Benign
2	85663673	C	T	C85663673T	SFTPB	NM_000542.5(SFTPB):c.847G>A:p.Ala283Thr	coding	Benign
2	85663677	G	A	G85663677A	SFTPB	NM_000542.5(SFTPB):c.843C>T:p.Asp281=	coding	Benign
2	85663705	C	T	C85663705T	SFTPB	NM_000542.5(SFTPB):c.815G>A:p.Arg272His	coding	Benign
2	85663812	G	A	G85663812A	SFTPB	NM_000542.5(SFTPB):c.708C>T:p.Arg236=	coding	Benign
2	85663814	G	A	G85663814A	SFTPB	NM_000542.5(SFTPB):c.706C>T:p.Arg236Cys	coding	Pathogenic
2	85665328	G	A	G85665328A	SFTPB	NM_000542.5(SFTPB):c.633C>T:p.Cys211=	coding	Benign/Likely_benign
2	85665370	G	A	G85665370A	SFTPB	NM_000542.5(SFTPB):c.591C>T:p.Ser197=	coding	Benign
2	85665659	C	T	C85665659T	SFTPB	NM_000542.5(SFTPB):c.529G>A:p.Val177Ile	coding	Benign
2	85665723	C	A	C85665723A	SFTPB	NM_000542.5(SFTPB):c.465G>T:p.Gly155=	coding	Pathogenic
2	85666608	A	C	A85666608C	SFTPB	NM_000542.5(SFTPB):c.393+9T>G	noncoding	Benign/Likely_benign
2	85666618	G	A	G85666618A	SFTPB	NM_000542.5(SFTPB):c.392C>T:p.Thr131Ile	coding	Benign
2	85666719	C	T	C85666719T	SFTPB	NM_000542.5(SFTPB):c.291G>A:p.Glu97=	coding	Benign/Likely_benign
2	85667185	G	T	G85667185T	SFTPB	NM_000542.5(SFTPB):c.196-8C>A	noncoding	Benign
2	85668136	C	T	C85668136T	SFTPB	NM_000542.5(SFTPB):c.48G>A:p.Thr16=	coding	Benign
2	85668215	T	G	T85668215G	SFTPB	NM_198843.3(SFTPB):c.-32A>C	coding	Benign
2	85694426	C	T	C85694426T	GNLY	NM_006433.5(GNLY):c.8C>T:p.Thr3Ile	coding	Benign
2	85694429	G	A	G85694429A	GNLY	NM_006433.5(GNLY):c.11G>A:p.Trp4Ter	coding	Benign
2	85695345	T	C	T85695345C	GNLY	NM_006433.5(GNLY):c.78T>C:p.Pro26=	coding	Benign
2	85839550	C	T	C85839550T	ST3GAL5	NM_003896.4(ST3GAL5):c.*594G>A	noncoding	Benign
2	85839662	C	T	C85839662T	ST3GAL5	NM_003896.4(ST3GAL5):c.*482G>A	noncoding	Benign
2	85840146	A	G	A85840146G	ST3GAL5	NM_003896.4(ST3GAL5):c.1255T>C:p.Ter419Arg	coding	Pathogenic
2	85840377	C	T	C85840377T	ST3GAL5	NM_003896.4(ST3GAL5):c.1024G>A:p.Gly342Ser	coding	Pathogenic
2	85844542	G	A	G85844542A	ST3GAL5	NM_003896.4(ST3GAL5):c.862C>T:p.Arg288Ter	coding	Pathogenic
2	85844559	G	A	G85844559A	ST3GAL5	NM_003896.4(ST3GAL5):c.850-5C>T	noncoding	Benign
2	85847875	G	A	G85847875A	ST3GAL5	NM_003896.4(ST3GAL5):c.648C>T:p.Phe216=	coding	Benign/Likely_benign
2	85847939	C	G	C85847939G	ST3GAL5	NM_003896.4(ST3GAL5):c.584G>C:p.Cys195Ser	coding	Pathogenic
2	85861188	T	C	T85861188C	ST3GAL5	NM_003896.4(ST3GAL5):c.311A>G:p.His104Arg	coding	Benign
2	85863421	C	T	C85863421T	ST3GAL5	NM_003896.4(ST3GAL5):c.147G>A:p.Trp49Ter	coding	Pathogenic
2	85888827	G	A	G85888827A	ST3GAL5	NM_003896.4(ST3GAL5):c.79C>T:p.Arg27Ter	coding	Pathogenic
2	85888869	G	A	G85888869A	ST3GAL5	NM_003896.4(ST3GAL5):c.37C>T:p.Pro13Ser	coding	Benign
2	85889045	G	T	G85889045T	ST3GAL5	NM_003896.3(ST3GAL5):c.-140C>A	noncoding	Benign
2	85889046	A	G	A85889046G	ST3GAL5	NM_003896.3(ST3GAL5):c.-141T>C	noncoding	Benign
2	86028042	C	T	C86028042T	POLR1A	NM_015425.6(POLR1A):c.4905G>A:p.Ala1635=	coding	Benign
2	86028643	G	A	G86028643A	POLR1A	NM_015425.6(POLR1A):c.4848C>T:p.Ala1616=	coding	Benign
2	86028667	T	C	T86028667C	POLR1A	NM_015425.6(POLR1A):c.4824A>G:p.Ile1608Met	coding	Benign
2	86031436	T	C	T86031436C	POLR1A	NM_015425.6(POLR1A):c.4472A>G:p.Glu1491Gly	coding	Benign
2	86031598	C	T	C86031598T	POLR1A	NM_015425.6(POLR1A):c.4310G>A:p.Gly1437Asp	coding	Benign
2	86040463	G	A	G86040463A	POLR1A	NM_015425.6(POLR1A):c.3669C>T:p.Ser1223=	coding	Benign
2	86044268	C	T	C86044268T	POLR1A	NM_015425.6(POLR1A):c.3006G>A:p.Gln1002=	coding	Benign
2	86048991	G	A	G86048991A	POLR1A	NM_015425.6(POLR1A):c.2527C>T:p.Arg843Ter	coding	Pathogenic
2	86049192	T	C	T86049192C	POLR1A	NM_015425.6(POLR1A):c.2443A>G:p.Ile815Val	coding	Benign
2	86053004	C	T	C86053004T	POLR1A	NM_015425.6(POLR1A):c.2209-4G>A	noncoding	Benign
2	86065292	C	T	C86065292T	POLR1A	NM_015425.6(POLR1A):c.2040G>A:p.Pro680=	coding	Benign
2	86065376	G	C	G86065376C	POLR1A	NM_015425.6(POLR1A):c.1956C>G:p.His652Gln	coding	Benign
2	86070063	C	T	C86070063T	POLR1A	NM_015425.6(POLR1A):c.1821G>A:p.Glu607=	coding	Benign
2	86070107	C	G	C86070107G	POLR1A	NM_015425.6(POLR1A):c.1777G>C:p.Glu593Gln	coding	Pathogenic
2	86070156	C	T	C86070156T	POLR1A	NM_015425.6(POLR1A):c.1728G>A:p.Arg576=	coding	Benign
2	86070277	G	A	G86070277A	POLR1A	NM_015425.6(POLR1A):c.1612-5C>T	noncoding	Benign
2	86078184	C	T	C86078184T	POLR1A	NM_015425.6(POLR1A):c.1187G>A:p.Ser396Asn	coding	Benign/Likely_benign
2	86088657	G	A	G86088657A	POLR1A	NM_015425.6(POLR1A):c.639C>T:p.Ser213=	coding	Benign
2	86089825	T	G	T86089825G	POLR1A	NM_015425.6(POLR1A):c.537A>C:p.Ala179=	coding	Benign
2	86089889	C	G	C86089889G	POLR1A	NM_015425.6(POLR1A):c.473G>C:p.Arg158Pro	coding	Benign/Likely_benign
2	86098734	A	G	A86098734G	POLR1A	NM_015425.6(POLR1A):c.309T>C:p.Ser103=	coding	Benign
2	86118919	A	G	A86118919G	PTCD3	NM_017952.6(PTCD3):c.415-2A>G	noncoding	Pathogenic
2	86132409	A	G	A86132409G	PTCD3	NM_017952.6(PTCD3):c.1358A>G:p.His453Arg	coding	Pathogenic
2	86144525	G	A	G86144525A	IMMT	NM_006839.2(IMMT):c.2020C>T:p.Leu674=	coding	Benign
2	86162071	G	C	G86162071C	IMMT	NM_006839.2(IMMT):c.801C>G:p.Gly267=	coding	Benign
2	86171254	A	G	A86171254G	IMMT	NM_006839.2(IMMT):c.513T>C:p.Thr171=	coding	Benign
2	86171296	C	A	C86171296A	IMMT	NM_006839.2(IMMT):c.471G>T:p.Ser157=	coding	Benign
2	86181295	A	G	A86181295G	IMMT	NM_006839.2(IMMT):c.119+4T>C	noncoding	Benign
2	86214180	A	C	A86214180C	REEP1	NM_001371279.1(REEP1):c.*2859T>G	noncoding	Benign
2	86214214	T	G	T86214214G	REEP1	NM_001371279.1(REEP1):c.*2825A>C	noncoding	Benign
2	86214255	C	T	C86214255T	REEP1	NM_001371279.1(REEP1):c.*2784G>A	noncoding	Benign
2	86214273	A	G	A86214273G	REEP1	NM_001371279.1(REEP1):c.*2766T>C	noncoding	Benign
2	86214554	C	T	C86214554T	REEP1	NM_001371279.1(REEP1):c.*2485G>A	noncoding	Benign
2	86215052	C	T	C86215052T	REEP1	NM_001371279.1(REEP1):c.*1987G>A	noncoding	Benign
2	86215641	C	T	C86215641T	REEP1	NM_001371279.1(REEP1):c.*1398G>A	noncoding	Benign
2	86215709	T	A	T86215709A	REEP1	NM_001371279.1(REEP1):c.*1330A>T	noncoding	Benign
2	86215782	G	A	G86215782A	REEP1	NM_001371279.1(REEP1):c.*1257C>T	noncoding	Benign
2	86216133	G	A	G86216133A	REEP1	NM_001371279.1(REEP1):c.*906C>T	noncoding	Benign
2	86216376	C	G	C86216376G	REEP1	NM_001371279.1(REEP1):c.*663G>C	noncoding	Benign
2	86216409	C	T	C86216409T	REEP1	NM_001371279.1(REEP1):c.*630G>A	noncoding	Benign
2	86216530	A	G	A86216530G	REEP1	NM_001371279.1(REEP1):c.*509T>C	noncoding	Benign
2	86216945	A	G	A86216945G	REEP1	NM_001371279.1(REEP1):c.*94T>C	noncoding	Benign/Likely_benign
2	86217126	G	A	G86217126A	REEP1	NM_001371279.1(REEP1):c.784-16C>T	noncoding	Benign
2	86217127	A	C	A86217127C	REEP1	NM_001371279.1(REEP1):c.784-17T>G	noncoding	Benign
2	86217129	A	C	A86217129C	REEP1	NM_001371279.1(REEP1):c.784-19T>G	noncoding	Benign
2	86232624	C	T	C86232624T	REEP1	NM_001371279.1(REEP1):c.595+1G>A	noncoding	Pathogenic
2	86232638	G	A	G86232638A	REEP1	NM_001371279.1(REEP1):c.582C>T:p.Ser194=	coding	Benign/Likely_benign
2	86232734	G	A	G86232734A	REEP1	NM_001371279.1(REEP1):c.486C>T:p.Asp162=	coding	Benign/Likely_benign
2	86251746	A	C	A86251746C	REEP1	NM_001371279.1(REEP1):c.417+211T>G	noncoding	Benign
2	86251779	G	A	G86251779A	REEP1	NM_001371279.1(REEP1):c.417+178C>T	noncoding	Benign
2	86251959	T	A	T86251959A	REEP1	NM_001371279.1(REEP1):c.415A>T:p.Lys139Ter	coding	Pathogenic
2	86251993	G	A	G86251993A	REEP1	NM_001371279.1(REEP1):c.381C>T:p.Asn127=	coding	Benign
2	86252029	G	T	G86252029T	REEP1	NM_001371279.1(REEP1):c.345C>A:p.Tyr115Ter	coding	Pathogenic
2	86252037	G	A	G86252037A	REEP1	NM_001371279.1(REEP1):c.337C>T:p.Arg113Ter	coding	Pathogenic
2	86254712	C	T	C86254712T	REEP1	NM_001371279.1(REEP1):c.285G>A:p.Thr95=	coding	Benign
2	86254802	A	T	A86254802T	REEP1	NM_001371279.1(REEP1):c.195T>A:p.Tyr65Ter	coding	Pathogenic
2	86254816	T	C	T86254816C	REEP1	NM_001371279.1(REEP1):c.183-2A>G	noncoding	Pathogenic
2	86263965	C	T	C86263965T	REEP1	NM_001371279.1(REEP1):c.182G>A:p.Trp61Ter	coding	Pathogenic
2	86264034	C	T	C86264034T	REEP1	NM_001371279.1(REEP1):c.113G>A:p.Trp38Ter	coding	Pathogenic
2	86264211	G	T	G86264211T	REEP1	NM_001371279.1(REEP1):c.106-170C>A	noncoding	Benign
2	86281956	T	C	T86281956C	REEP1	NM_001371279.1(REEP1):c.105+214A>G	noncoding	Benign
2	86281979	C	T	C86281979T	REEP1	NM_001371279.1(REEP1):c.105+191G>A	noncoding	Benign
2	86282215	C	T	C86282215T	REEP1	NM_001371279.1(REEP1):c.60G>A:p.Ala20=	coding	Benign
2	86282216	G	T	G86282216T	REEP1	NM_001371279.1(REEP1):c.59C>A:p.Ala20Glu	coding	Pathogenic
2	86337235	C	A	C86337235A	REEP1	NM_001371279.1(REEP1):c.32+244G>T	noncoding	Benign
2	86337367	C	A	C86337367A	REEP1	NM_001371279.1(REEP1):c.32+112G>T	noncoding	Benign
2	86338007	C	A	C86338007A	REEP1	NM_001164730.2(REEP1):c.53+17G>T	noncoding	Benign
2	86338344	T	C	T86338344C	REEP1	NC_000002.12:g.86338344T>C	noncoding	Benign
2	86482581	C	T	C86482581T	KDM3A	NM_018433.6(KDM3A):c.2809C>T:p.Leu937=	coding	Benign
2	86491237	C	T	C86491237T	KDM3A	NM_018433.6(KDM3A):c.3847C>T:p.Leu1283=	coding	Benign
2	86789383	A	G	A86789383G	CD8A	NM_001768.7(CD8A):c.565T>C:p.Leu189=	coding	Benign
2	86789439	G	A	G86789439A	CD8A	NM_001768.6(CD8A):c.515-6C>T	noncoding	Benign
2	86789707	C	T	C86789707T	CD8A	NM_001768.6(CD8A):c.447G>A:p.Ala149=	coding	Benign
2	86789749	C	T	C86789749T	CD8A	NM_001768.6(CD8A):c.405G>A:p.Ala135=	coding	Benign
2	86790400	C	T	C86790400T	CD8A	NM_001768.6(CD8A):c.331G>A:p.Gly111Ser	coding	Pathogenic
2	86790433	G	A	G86790433A	CD8A	NM_001768.6(CD8A):c.298C>T:p.Leu100Phe	coding	Benign
2	86790452	C	T	C86790452T	CD8A	NM_001768.7(CD8A):c.279G>A:p.Arg93=	coding	Benign
2	86790539	G	T	G86790539T	CD8A	NM_001768.7(CD8A):c.192C>A:p.Ala64=	coding	Benign
2	86790560	G	A	G86790560A	CD8A	NM_001768.6(CD8A):c.171C>T:p.Leu57=	coding	Benign
2	86790578	C	A	C86790578A	CD8A	NM_001768.6(CD8A):c.153G>T:p.Thr51=	coding	Benign
2	86790592	G	A	G86790592A	CD8A	NM_001768.6(CD8A):c.139C>T:p.Leu47=	coding	Benign
2	88087989	C	A	C88087989A	SMYD1	NM_198274.4(SMYD1):c.442C>A:p.Arg148=	coding	Benign
2	88096694	G	A	G88096694A	SMYD1	NM_198274.4(SMYD1):c.798G>A:p.Leu266=	coding	Benign
2	88103066	G	T	G88103066T	SMYD1	NM_198274.4(SMYD1):c.897G>T:p.Gln299His	coding	Benign
2	88556729	G	C	G88556729C	EIF2AK3	NM_004836.6(EIF2AK3):c.*1007C>G	noncoding	Benign
2	88557796	T	C	T88557796C	EIF2AK3	NM_004836.7(EIF2AK3):c.3291A>G:p.Ser1097=	coding	Benign
2	88570873	C	T	C88570873T	EIF2AK3	NM_004836.7(EIF2AK3):c.2985+1G>A	noncoding	Pathogenic
2	88574725	G	A	G88574725A	EIF2AK3	NM_004836.7(EIF2AK3):c.2758C>T:p.Gln920Ter	coding	Pathogenic
2	88574776	G	A	G88574776A	EIF2AK3	NM_004836.7(EIF2AK3):c.2707C>T:p.Arg903Ter	coding	Pathogenic
2	88574951	A	G	A88574951G	EIF2AK3	NM_004836.7(EIF2AK3):c.2532T>C:p.Ser844=	coding	Benign
2	88575373	C	A	C88575373A	EIF2AK3	NM_004836.7(EIF2AK3):c.2110G>T:p.Ala704Ser	coding	Benign
2	88576576	C	T	C88576576T	EIF2AK3	NM_004836.7(EIF2AK3):c.2014G>A:p.Glu672Lys	coding	Benign/Likely_benign
2	88579613	T	C	T88579613C	EIF2AK3	NM_004836.7(EIF2AK3):c.1791A>G:p.Gln597=	coding	Benign
2	88583424	T	A	T88583424A	EIF2AK3	NM_004836.7(EIF2AK3):c.1763+6A>T	noncoding	Benign
2	88583430	C	T	C88583430T	EIF2AK3	NM_004836.7(EIF2AK3):c.1763G>A:p.Arg588Gln	coding	Pathogenic
2	88583437	T	A	T88583437A	EIF2AK3	NM_004836.7(EIF2AK3):c.1756A>T:p.Ile586Leu	coding	Benign
2	88585952	C	T	C88585952T	EIF2AK3	NM_004836.7(EIF2AK3):c.1539G>A:p.Lys513=	coding	Benign
2	88588875	G	A	G88588875A	EIF2AK3	NM_004836.7(EIF2AK3):c.1192C>T:p.Gln398Ter	coding	Pathogenic
2	88590826	C	A	C88590826A	EIF2AK3	NM_004836.7(EIF2AK3):c.994G>T:p.Glu332Ter	coding	Pathogenic
2	88590914	T	G	T88590914G	EIF2AK3	NM_004836.7(EIF2AK3):c.906A>C:p.Glu302Asp	coding	Benign
2	88593334	G	A	G88593334A	EIF2AK3	NM_004836.7(EIF2AK3):c.705C>T:p.Ile235=	coding	Benign
2	88595605	T	C	T88595605C	EIF2AK3	NM_004836.7(EIF2AK3):c.497A>G:p.Gln166Arg	coding	Benign
2	88613755	G	C	G88613755C	EIF2AK3	NM_004836.7(EIF2AK3):c.407C>G:p.Ser136Cys	coding	Benign
2	88627121	C	T	C88627121T	EIF2AK3	NM_004836.7(EIF2AK3):c.154G>A:p.Ala52Thr	coding	Benign/Likely_benign
2	88627206	G	A	G88627206A	EIF2AK3	NM_004836.7(EIF2AK3):c.69C>T:p.Leu23=	coding	Benign
2	88627446	G	A	G88627446A	EIF2AK3	NM_004836.7(EIF2AK3):c.-172C>T	noncoding	Benign
2	88691703	A	G	A88691703G	RPIA	NM_144563.3(RPIA):c.5A>G:p.Gln2Arg	coding	Benign
2	88691782	C	T	C88691782T	RPIA	NM_144563.3(RPIA):c.84C>T:p.Gly28=	coding	Benign
2	88691804	C	A	C88691804A	RPIA	NM_144563.3(RPIA):c.106C>A:p.Leu36Ile	coding	Benign
2	88700008	G	A	G88700008A	RPIA	NM_144563.3(RPIA):c.347-1G>A	noncoding	Pathogenic
2	88729279	C	T	C88729279T	RPIA	NM_144563.3(RPIA):c.404C>T:p.Ala135Val	coding	Pathogenic
2	88734602	C	T	C88734602T	RPIA	NM_144563.3(RPIA):c.513C>T:p.Leu171=	coding	Benign
2	88736565	G	C	G88736565C	RPIA	NM_144563.3(RPIA):c.627G>C:p.Trp209Cys	coding	Pathogenic
2	88736571	G	A	G88736571A	RPIA	NM_144563.3(RPIA):c.633G>A:p.Lys211=	coding	Benign
2	88750000	A	G	A88750000G	RPIA	NM_144563.3(RPIA):c.858A>G:p.Leu286=	coding	Benign
2	88750609	T	G	T88750609G	RPIA	NM_144563.3(RPIA):c.*531T>G	noncoding	Benign
2	95277422	G	A	G95277422A	PROM2	NM_001165978.3(PROM2):c.831G>A:p.Gln277=	coding	Benign
2	96032075	G	A	G96032075A	GPAT2	NM_001321525.1(GPAT2):c.135C>T:p.Pro45=	coding	Benign
2	96115583	G	A	G96115583A	ADRA2B	NM_000682.7(ADRA2B):c.567C>T:p.Ile189=	coding	Benign
2	96116030	G	A	G96116030A	ADRA2B	NM_000682.7(ADRA2B):c.120C>T:p.Ser40=	coding	Benign
2	96129826	C	T	C96129826T	ASTL	NM_001002036.3(ASTL):c.872G>A:p.Arg291Lys	coding	Benign
2	96132712	C	T	C96132712T	ASTL	NM_001002036.3(ASTL):c.465G>A:p.Ser155=	coding	Benign
2	96144788	G	A	G96144788A	DUSP2	NM_004418.4(DUSP2):c.483C>T:p.Ser161=	coding	Benign
2	96250224	C	G	C96250224G	TMEM127	NM_017849.4(TMEM127):c.*3584G>C	noncoding	Benign
2	96250239	G	A	G96250239A	TMEM127	NM_017849.3(TMEM127):c.*3569C>T	noncoding	Benign
2	96250599	T	C	T96250599C	TMEM127	NM_017849.3(TMEM127):c.*3209A>G	noncoding	Benign
2	96250842	G	C	G96250842C	TMEM127	NM_017849.3(TMEM127):c.*2966C>G	noncoding	Benign
2	96250963	A	C	A96250963C	TMEM127	NM_017849.3(TMEM127):c.*2845T>G	noncoding	Benign
2	96251508	C	T	C96251508T	TMEM127	NM_017849.3(TMEM127):c.*2300G>A	noncoding	Benign
2	96251722	G	A	G96251722A	TMEM127	NM_017849.3(TMEM127):c.*2086C>T	noncoding	Benign
2	96251796	G	A	G96251796A	TMEM127	NM_017849.3(TMEM127):c.*2012C>T	noncoding	Benign
2	96251850	T	G	T96251850G	TMEM127	NM_017849.3(TMEM127):c.*1958A>C	noncoding	Benign
2	96252036	C	T	C96252036T	TMEM127	NM_017849.3(TMEM127):c.*1772G>A	noncoding	Benign
2	96252085	G	A	G96252085A	TMEM127	NM_017849.3(TMEM127):c.*1723C>T	noncoding	Benign
2	96252303	T	C	T96252303C	TMEM127	NM_017849.4(TMEM127):c.*1505A>G	noncoding	Benign
2	96252502	G	A	G96252502A	TMEM127	NM_017849.3(TMEM127):c.*1306C>T	noncoding	Benign
2	96252507	A	G	A96252507G	TMEM127	NM_017849.3(TMEM127):c.*1301T>C	noncoding	Benign
2	96252575	G	A	G96252575A	TMEM127	NM_017849.3(TMEM127):c.*1233C>T	noncoding	Benign
2	96252645	G	A	G96252645A	TMEM127	NM_017849.3(TMEM127):c.*1163C>T	noncoding	Benign
2	96253306	G	A	G96253306A	TMEM127	NM_017849.3(TMEM127):c.*502C>T	noncoding	Benign
2	96253470	C	T	C96253470T	TMEM127	NM_017849.3(TMEM127):c.*338G>A	noncoding	Benign
2	96253751	G	A	G96253751A	TMEM127	NM_017849.3(TMEM127):c.*57C>T	noncoding	Benign
2	96253758	G	A	G96253758A	TMEM127	NM_017849.3(TMEM127):c.*50C>T	noncoding	Benign
2	96253904	C	T	C96253904T	TMEM127	NM_017849.4(TMEM127):c.621G>A:p.Ala207=	coding	Benign
2	96253953	G	A	G96253953A	TMEM127	NM_017849.3(TMEM127):c.572C>T:p.Thr191Met	coding	Benign/Likely_benign
2	96253960	G	A	G96253960A	TMEM127	NM_017849.3(TMEM127):c.565C>T:p.Leu189=	coding	Benign/Likely_benign
2	96253991	G	A	G96253991A	TMEM127	NM_017849.3(TMEM127):c.534C>T:p.Tyr178=	coding	Benign/Likely_benign
2	96254050	G	A	G96254050A	TMEM127	NM_017849.3(TMEM127):c.475C>T:p.Gln159Ter	coding	Pathogenic
2	96254056	G	A	G96254056A	TMEM127	NM_017849.3(TMEM127):c.469C>T:p.Gln157Ter	coding	Pathogenic
2	96254061	A	T	A96254061T	TMEM127	NM_017849.3(TMEM127):c.464T>A:p.Leu155Ter	coding	Pathogenic/Likely_pathogenic
2	96254099	G	A	G96254099A	TMEM127	NM_017849.3(TMEM127):c.426C>T:p.Thr142=	coding	Benign/Likely_benign
2	96254117	T	C	T96254117C	TMEM127	NM_017849.3(TMEM127):c.410-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	96254117	T	G	T96254117G	TMEM127	NM_017849.3(TMEM127):c.410-2A>C	noncoding	Pathogenic
2	96254788	C	G	C96254788G	TMEM127	NM_017849.3(TMEM127):c.409+45G>C	noncoding	Benign
2	96254826	G	A	G96254826A	TMEM127	NM_017849.3(TMEM127):c.409+7C>T	noncoding	Benign/Likely_benign
2	96254832	C	A	C96254832A	TMEM127	NM_017849.3(TMEM127):c.409+1G>T	noncoding	Pathogenic
2	96254848	C	T	C96254848T	TMEM127	NM_017849.3(TMEM127):c.394G>A:p.Ala132Thr	coding	Benign/Likely_benign
2	96254872	T	A	T96254872A	TMEM127	NM_017849.4(TMEM127):c.370A>T:p.Lys124Ter	coding	Pathogenic
2	96254974	C	T	C96254974T	TMEM127	NM_001193304.3(TMEM127):c.268G>A:p.Val90Met	coding	Benign/Likely_benign
2	96254998	C	G	C96254998G	TMEM127	NM_017849.3(TMEM127):c.245-1G>C	coding	Pathogenic/Likely_pathogenic
2	96255155	T	G	T96255155G	TMEM127	NM_017849.3(TMEM127):c.245-158A>C	noncoding	Benign
2	96265174	C	T	C96265174T	TMEM127	NM_017849.3(TMEM127):c.208G>A:p.Asp70Asn	coding	Benign/Likely_benign
2	96265224	C	T	C96265224T	TMEM127	NM_017849.3(TMEM127):c.158G>A:p.Trp53Ter	coding	Pathogenic
2	96265309	T	A	T96265309A	TMEM127	NM_017849.4(TMEM127):c.73A>T:p.Lys25Ter	coding	Pathogenic
2	96265329	G	A	G96265329A	TMEM127	NM_017849.3(TMEM127):c.53C>T:p.Pro18Leu	coding	Benign/Likely_benign
2	96265379	C	A	C96265379A	TMEM127	NM_017849.3(TMEM127):c.3G>T:p.Met1Ile	coding	Pathogenic
2	96265379	C	T	C96265379T	TMEM127	NM_017849.3(TMEM127):c.3G>A:p.Met1Ile	coding	Pathogenic
2	96265380	A	C	A96265380C	TMEM127	NM_017849.4(TMEM127):c.2T>G:p.Met1Arg	coding	Pathogenic
2	96265440	G	A	G96265440A	TMEM127	NM_017849.3(TMEM127):c.-59C>T	noncoding	Benign
2	96265468	G	A	G96265468A	TMEM127	NM_017849.3(TMEM127):c.-87C>T	noncoding	Benign
2	96266108	T	C	T96266108C	TMEM127	NM_017849.3(TMEM127):c.-371A>G	noncoding	Benign
2	96274755	G	C	G96274755C	SNRNP200	NM_014014.5(SNRNP200):c.*257C>G	noncoding	Benign
2	96275115	T	C	T96275115C	SNRNP200	NM_014014.5(SNRNP200):c.6308A>G:p.Asn2103Ser	coding	Pathogenic
2	96277190	C	T	C96277190T	SNRNP200	NM_014014.5(SNRNP200):c.5983G>A:p.Ala1995Thr	coding	Benign
2	96277230	A	G	A96277230G	SNRNP200	NM_014014.5(SNRNP200):c.5943T>C:p.Ser1981=	coding	Benign/Likely_benign
2	96277240	C	G	C96277240G	SNRNP200	NM_014014.5(SNRNP200):c.5933G>C:p.Gly1978Ala	coding	Benign
2	96277695	G	C	G96277695C	SNRNP200	NM_014014.5(SNRNP200):c.5775C>G:p.Ala1925=	coding	Benign
2	96277704	G	A	G96277704A	SNRNP200	NM_014014.5(SNRNP200):c.5766C>T:p.Leu1922=	coding	Benign/Likely_benign
2	96277897	G	A	G96277897A	SNRNP200	NM_014014.5(SNRNP200):c.5664C>T:p.His1888=	coding	Benign/Likely_benign
2	96277907	T	C	T96277907C	SNRNP200	NM_014014.5(SNRNP200):c.5654A>G:p.Asn1885Ser	coding	Pathogenic
2	96278309	G	A	G96278309A	SNRNP200	NM_014014.5(SNRNP200):c.5538C>T:p.Ile1846=	coding	Benign/Likely_benign
2	96278617	G	A	G96278617A	SNRNP200	NM_014014.5(SNRNP200):c.5418C>T:p.Asp1806=	coding	Benign
2	96278649	G	A	G96278649A	SNRNP200	NM_014014.5(SNRNP200):c.5386C>T:p.Leu1796=	coding	Benign
2	96278815	G	A	G96278815A	SNRNP200	NM_014014.5(SNRNP200):c.5317C>T:p.Leu1773=	coding	Benign
2	96279004	G	C	G96279004C	SNRNP200	NM_014014.5(SNRNP200):c.5134-6C>G	noncoding	Benign/Likely_benign
2	96284585	C	T	C96284585T	SNRNP200	NM_014014.5(SNRNP200):c.4165G>A:p.Val1389Ile	coding	Benign/Likely_benign
2	96285264	T	A	T96285264A	SNRNP200	NM_014014.5(SNRNP200):c.4080A>T:p.Ala1360=	coding	Benign/Likely_benign
2	96286390	G	A	G96286390A	SNRNP200	NM_014014.5(SNRNP200):c.3924C>T:p.Pro1308=	coding	Benign
2	96286438	C	T	C96286438T	SNRNP200	NM_014014.5(SNRNP200):c.3876G>A:p.Pro1292=	coding	Benign
2	96286863	G	A	G96286863A	SNRNP200	NM_014014.5(SNRNP200):c.3654C>T:p.Ser1218=	coding	Benign
2	96287095	A	G	A96287095G	SNRNP200	NM_014014.5(SNRNP200):c.3550T>C:p.Leu1184=	coding	Benign
2	96287913	T	C	T96287913C	SNRNP200	NM_014014.5(SNRNP200):c.3315A>G:p.Ala1105=	coding	Benign/Likely_benign
2	96287959	C	A	C96287959A	SNRNP200	NM_014014.5(SNRNP200):c.3269G>T:p.Arg1090Leu	coding	Pathogenic
2	96287968	G	A	G96287968A	SNRNP200	NM_014014.5(SNRNP200):c.3260C>T:p.Ser1087Leu	coding	Pathogenic
2	96289315	T	C	T96289315C	SNRNP200	NM_014014.5(SNRNP200):c.3005A>G:p.Asn1002Ser	coding	Benign/Likely_benign
2	96289939	T	C	T96289939C	SNRNP200	NM_014014.5(SNRNP200):c.2800A>G:p.Thr934Ala	coding	Benign/Likely_benign
2	96290415	G	C	G96290415C	SNRNP200	NM_014014.5(SNRNP200):c.2653C>G:p.Gln885Glu	coding	Pathogenic
2	96290475	C	T	C96290475T	SNRNP200	NM_014014.5(SNRNP200):c.2593G>A:p.Gly865Ser	coding	Pathogenic/Likely_pathogenic
2	96290823	G	A	G96290823A	SNRNP200	NM_014014.5(SNRNP200):c.2422-8C>T	noncoding	Benign
2	96293066	T	C	T96293066C	SNRNP200	NM_014014.5(SNRNP200):c.2066A>G:p.Tyr689Cys	coding	Pathogenic/Likely_pathogenic
2	96293085	C	A	C96293085A	SNRNP200	NM_014014.5(SNRNP200):c.2047G>T:p.Val683Leu	coding	Pathogenic
2	96293090	C	T	C96293090T	SNRNP200	NM_014014.5(SNRNP200):c.2042G>A:p.Arg681His	coding	Pathogenic
2	96293091	G	A	G96293091A	SNRNP200	NM_014014.5(SNRNP200):c.2041C>T:p.Arg681Cys	coding	Pathogenic/Likely_pathogenic
2	96293498	A	G	A96293498G	SNRNP200	NM_014014.5(SNRNP200):c.1854T>C:p.His618=	coding	Benign/Likely_benign
2	96296986	G	A	G96296986A	SNRNP200	NM_014014.5(SNRNP200):c.1462C>T:p.Leu488Phe	coding	Pathogenic
2	96297681	T	C	T96297681C	SNRNP200	NM_014014.5(SNRNP200):c.1159A>G:p.Met387Val	coding	Benign/Likely_benign
2	96298965	G	A	G96298965A	SNRNP200	NM_014014.5(SNRNP200):c.732C>T:p.Leu244=	coding	Benign
2	96299335	C	T	C96299335T	SNRNP200	NM_014014.5(SNRNP200):c.723G>A:p.Ser241=	coding	Benign
2	96303267	C	T	C96303267T	SNRNP200	NM_014014.5(SNRNP200):c.273G>A:p.Ser91=	coding	Benign
2	96303341	T	A	T96303341A	SNRNP200	NM_014014.5(SNRNP200):c.210-11A>T	noncoding	Benign
2	96304824	C	G	C96304824G	SNRNP200	NM_014014.5(SNRNP200):c.90G>C:p.Arg30=	coding	Benign/Likely_benign
2	96305518	G	A	G96305518A	SNRNP200	NM_014014.5(SNRNP200):c.-81C>T	noncoding	Benign
2	96344170	A	G	A96344170G	NCAPH	NM_015341.5(NCAPH):c.661A>G:p.Arg221Gly	coding	Benign
2	96351838	C	T	C96351838T	NCAPH	NM_015341.5(NCAPH):c.728C>T:p.Pro243Leu	coding	Pathogenic
2	96353406	A	G	A96353406G	NCAPH	NM_015341.5(NCAPH):c.1002+9A>G	noncoding	Benign
2	96684376	C	T	C96684376T	FER1L5	NM_001293083.2(FER1L5):c.1719C>T:p.Ala573=	coding	Benign
2	96711646	G	A	G96711646A	LMAN2L	NM_001142292.1(LMAN2L):c.817+10C>T	noncoding	Benign
2	96739883	C	T	C96739883T	LMAN2L	NM_001322346.1(LMAN2L):c.-195G>A	coding	Pathogenic
2	96761398	G	A	G96761398A	CNNM4	NM_020184.4(CNNM4):c.399G>A:p.Val133=	coding	Benign/Likely_benign
2	96761598	C	A	C96761598A	CNNM4	NM_020184.4(CNNM4):c.599C>A:p.Ser200Tyr	coding	Pathogenic
2	96761706	G	A	G96761706A	CNNM4	NM_020184.4(CNNM4):c.707G>A:p.Arg236Gln	coding	Pathogenic/Likely_pathogenic
2	96761970	T	C	T96761970C	CNNM4	NM_020184.4(CNNM4):c.971T>C:p.Leu324Pro	coding	Pathogenic
2	96762219	G	T	G96762219T	CNNM4	NM_020184.4(CNNM4):c.1220G>T:p.Arg407Leu	coding	Pathogenic
2	96797070	C	T	C96797070T	CNNM4	NM_020184.4(CNNM4):c.1461C>T:p.Phe487=	coding	Benign/Likely_benign
2	96797103	C	A	C96797103A	CNNM4	NM_020184.4(CNNM4):c.1494C>A:p.Asp498Glu	coding	Pathogenic
2	96797512	G	A	G96797512A	CNNM4	NM_020184.4(CNNM4):c.1547-1G>A	noncoding	Pathogenic
2	96797521	C	T	C96797521T	CNNM4	NM_020184.4(CNNM4):c.1555C>T:p.Arg519Ter	coding	Pathogenic
2	96799056	G	C	G96799056C	CNNM4	NM_020184.4(CNNM4):c.1682-1G>C	noncoding	Pathogenic
2	96799065	C	T	C96799065T	CNNM4	NM_020184.4(CNNM4):c.1690C>T:p.Gln564Ter	coding	Pathogenic
2	96799118	C	G	C96799118G	CNNM4	NM_020184.4(CNNM4):c.1743C>G:p.Tyr581Ter	coding	Pathogenic
2	96799199	G	A	G96799199A	CNNM4	NM_020184.4(CNNM4):c.1824G>A:p.Pro608=	coding	Benign
2	96799235	G	A	G96799235A	CNNM4	NM_020184.4(CNNM4):c.1851+9G>A	noncoding	Benign/Likely_benign
2	96799647	C	T	C96799647T	CNNM4	NM_020184.4(CNNM4):c.1947C>T:p.Ser649=	coding	Benign
2	96809338	C	T	C96809338T	CNNM4	NM_020184.4(CNNM4):c.2149C>T:p.Gln717Ter	coding	Pathogenic
2	96809608	C	T	C96809608T	CNNM4	NM_020184.4(CNNM4):c.*91C>T	noncoding	Benign
2	96810077	T	C	T96810077C	CNNM4	NM_020184.4(CNNM4):c.*560T>C	noncoding	Benign
2	96810482	A	G	A96810482G	CNNM4	NM_020184.4(CNNM4):c.*965A>G	noncoding	Benign
2	96810761	C	T	C96810761T	CNNM4	NM_020184.4(CNNM4):c.*1244C>T	noncoding	Benign
2	96810999	C	T	C96810999T	CNNM4	NM_020184.4(CNNM4):c.*1482C>T	noncoding	Benign
2	96811033	C	T	C96811033T	CNNM4	NM_020184.4(CNNM4):c.*1516C>T	noncoding	Benign
2	96811210	G	A	G96811210A	CNNM4	NM_020184.4(CNNM4):c.*1693G>A	noncoding	Benign
2	96811507	T	A	T96811507A	CNNM4	NM_020184.4(CNNM4):c.*1990T>A	noncoding	Benign
2	96811637	C	T	C96811637T	CNNM4	NM_020184.4(CNNM4):c.*2120C>T	noncoding	Benign
2	97713589	C	A	C97713589A	ZAP70	NM_001079.3(ZAP70):c.-186C>A	noncoding	Benign
2	97713925	T	A	T97713925A	ZAP70	NM_001079.3(ZAP70):c.-91T>A	noncoding	Benign
2	97713957	T	C	T97713957C	ZAP70	NM_001079.3(ZAP70):c.-59T>C	noncoding	Benign
2	97724141	G	A	G97724141A	ZAP70	NM_001079.3(ZAP70):c.105G>A:p.Leu35=	coding	Benign
2	97724153	C	A	C97724153A	ZAP70	NM_001079.3(ZAP70):c.117C>A:p.Cys39Ter	coding	Pathogenic
2	97724275	C	A	C97724275A	ZAP70	NM_001079.3(ZAP70):c.239C>A:p.Pro80Gln	coding	Pathogenic
2	97724297	C	G	C97724297G	ZAP70	NM_001079.4(ZAP70):c.261C>G:p.Tyr87Ter	coding	Pathogenic
2	97724319	C	T	C97724319T	ZAP70	NM_001079.4(ZAP70):c.283C>T:p.Pro95Ser	coding	Pathogenic
2	97725136	G	A	G97725136A	ZAP70	NM_001079.3(ZAP70):c.447G>A:p.Val149=	coding	Benign
2	97725153	C	T	C97725153T	ZAP70	NM_001079.3(ZAP70):c.464C>T:p.Thr155Met	coding	Benign
2	97725163	C	T	C97725163T	ZAP70	NM_001079.3(ZAP70):c.474C>T:p.His158=	coding	Benign/Likely_benign
2	97725220	T	C	T97725220C	ZAP70	NM_001079.3(ZAP70):c.531T>C:p.Leu177=	coding	Benign
2	97725265	C	G	C97725265G	ZAP70	NM_001079.3(ZAP70):c.563+13C>G	noncoding	Benign
2	97732893	C	T	C97732893T	ZAP70	NM_001079.3(ZAP70):c.574C>T:p.Arg192Trp	coding	Pathogenic
2	97732991	C	T	C97732991T	ZAP70	NM_001079.3(ZAP70):c.672C>T:p.Pro224=	coding	Benign/Likely_benign
2	97733316	C	T	C97733316T	ZAP70	NM_001079.3(ZAP70):c.810C>T:p.Leu270=	coding	Benign/Likely_benign
2	97733464	G	A	G97733464A	ZAP70	NM_001079.3(ZAP70):c.838-80G>A	noncoding	Pathogenic
2	97734504	C	T	C97734504T	ZAP70	NM_001079.3(ZAP70):c.890-16C>T	coding	Benign
2	97734709	G	C	G97734709C	ZAP70	NM_001079.3(ZAP70):c.1079G>C:p.Arg360Pro	coding	Pathogenic
2	97735466	G	A	G97735466A	ZAP70	NM_001079.3(ZAP70):c.1289+10G>A	noncoding	Benign
2	97737576	C	T	C97737576T	ZAP70	NM_001079.3(ZAP70):c.1393C>T:p.Arg465Cys	coding	Pathogenic
2	97737577	G	A	G97737577A	ZAP70	NM_001079.3(ZAP70):c.1394G>A:p.Arg465His	coding	Pathogenic
2	97737676	G	T	G97737676T	ZAP70	NM_001079.4(ZAP70):c.1482+11G>T	noncoding	Benign
2	97737828	C	A	C97737828A	ZAP70	NM_001079.3(ZAP70):c.1554C>A:p.Ser518Arg	coding	Pathogenic
2	97737879	C	T	C97737879T	ZAP70	NM_001079.3(ZAP70):c.1605C>T:p.Tyr535=	coding	Benign
2	97737904	G	A	G97737904A	ZAP70	NM_001079.3(ZAP70):c.1623+7G>A	noncoding	Benign
2	97737984	G	A	G97737984A	ZAP70	NM_001079.3(ZAP70):c.1624-11G>A	noncoding	Pathogenic
2	97738009	G	A	G97738009A	ZAP70	NM_001079.3(ZAP70):c.1638G>A:p.Pro546=	coding	Benign
2	97738048	G	A	G97738048A	ZAP70	NM_001079.4(ZAP70):c.1677G>A:p.Glu559=	coding	Benign
2	97738085	A	T	A97738085T	ZAP70	NM_001079.3(ZAP70):c.1714A>T:p.Met572Leu	coding	Pathogenic
2	97739527	G	A	G97739527A	ZAP70	NM_001079.3(ZAP70):c.*29G>A	noncoding	Benign
2	97739787	G	C	G97739787C	ZAP70	NM_001079.3(ZAP70):c.*289G>C	noncoding	Benign
2	97927482	C	T	C97927482T	TMEM131	NM_015348.2(TMEM131):c.193G>A:p.Val65Ile	coding	Benign
2	98121391	C	T	C98121391T	VWA3B	NM_144992.5(VWA3B):c.635C>T:p.Thr212Met	coding	Benign
2	98121411	G	T	G98121411T	VWA3B	NM_144992.5(VWA3B):c.655G>T:p.Glu219Ter	coding	Benign
2	98121421	G	A	G98121421A	VWA3B	NM_144992.5(VWA3B):c.665G>A:p.Arg222His	coding	Benign
2	98128277	T	C	T98128277C	VWA3B	NM_144992.5(VWA3B):c.741T>C:p.Pro247=	coding	Benign
2	98133840	G	A	G98133840A	VWA3B	NM_144992.5(VWA3B):c.889G>A:p.Glu297Lys	coding	Benign
2	98162934	G	A	G98162934A	VWA3B	NM_144992.5(VWA3B):c.1072G>A:p.Val358Met	coding	Benign
2	98162955	G	A	G98162955A	VWA3B	NM_144992.5(VWA3B):c.1093G>A:p.Asp365Asn	coding	Benign
2	98181046	C	T	C98181046T	VWA3B	NM_144992.5(VWA3B):c.1145C>T:p.Ser382Leu	coding	Benign
2	98194441	A	G	A98194441G	VWA3B	NM_144992.5(VWA3B):c.1686A>G:p.Glu562=	coding	Benign
2	98194469	C	T	C98194469T	VWA3B	NM_144992.5(VWA3B):c.1714C>T:p.Gln572Ter	coding	Benign
2	98211947	C	T	C98211947T	VWA3B	NM_144992.5(VWA3B):c.1755C>T:p.Asn585=	coding	Benign
2	98217874	A	C	A98217874C	VWA3B	NM_144992.5(VWA3B):c.1865A>C:p.Lys622Thr	coding	Pathogenic
2	98236669	C	T	C98236669T	VWA3B	NM_144992.5(VWA3B):c.2612C>T:p.Pro871Leu	coding	Benign
2	98256142	T	A	T98256142A	VWA3B	NM_144992.5(VWA3B):c.2811T>A:p.Val937=	coding	Benign
2	98290534	A	C	A98290534C	VWA3B	NM_144992.5(VWA3B):c.3069A>C:p.Pro1023=	coding	Benign
2	98298036	C	G	C98298036G	VWA3B	NM_144992.5(VWA3B):c.3282+5C>G	noncoding	Benign
2	98300087	T	C	T98300087C	VWA3B	NM_144992.5(VWA3B):c.3291T>C:p.Asp1097=	coding	Benign
2	98300192	A	G	A98300192G	VWA3B	NM_144992.5(VWA3B):c.3396A>G:p.Thr1132=	coding	Benign
2	98346286	C	T	C98346286T	CNGA3	NM_001298.2(CNGA3):c.-286C>T	noncoding	Benign
2	98370042	C	T	C98370042T	CNGA3	NM_001298.3(CNGA3):c.67C>T:p.Arg23Ter	coding	Pathogenic
2	98370047	T	C	T98370047C	CNGA3	NM_001298.3(CNGA3):c.72T>C:p.Asp24=	coding	Benign
2	98370056	C	T	C98370056T	CNGA3	NM_001298.3(CNGA3):c.81C>T:p.Arg27=	coding	Benign
2	98377671	A	G	A98377671G	CNGA3	NM_001298.3(CNGA3):c.102-16A>G	noncoding	Benign
2	98377696	G	A	G98377696A	CNGA3	NM_001298.3(CNGA3):c.111G>A:p.Ser37=	coding	Benign
2	98377846	T	G	T98377846G	CNGA3	NM_001298.3(CNGA3):c.215+46T>G	noncoding	Benign
2	98380299	G	T	G98380299T	CNGA3	NM_001298.3(CNGA3):c.340G>T:p.Glu114Ter	coding	Pathogenic
2	98380312	A	G	A98380312G	CNGA3	NM_001298.3(CNGA3):c.353A>G:p.Gln118Arg	coding	Benign
2	98383384	G	A	G98383384A	CNGA3	NM_001298.3(CNGA3):c.396-4G>A	noncoding	Benign/Likely_benign
2	98389666	C	T	C98389666T	CNGA3	NM_001298.3(CNGA3):c.458C>T:p.Thr153Met	coding	Benign
2	98389696	C	T	C98389696T	CNGA3	NM_001298.3(CNGA3):c.488C>T:p.Pro163Leu	coding	Pathogenic
2	98389721	G	A	G98389721A	CNGA3	NM_001298.3(CNGA3):c.513G>A:p.Trp171Ter	coding	Pathogenic
2	98389768	T	C	T98389768C	CNGA3	NM_001298.3(CNGA3):c.560T>C:p.Ile187Thr	coding	Pathogenic
2	98391869	G	A	G98391869A	CNGA3	NM_001298.3(CNGA3):c.572G>A:p.Cys191Tyr	coding	Pathogenic/Likely_pathogenic
2	98391889	G	A	G98391889A	CNGA3	NM_001298.3(CNGA3):c.592G>A:p.Glu198Lys	coding	Benign/Likely_benign
2	98391922	T	C	T98391922C	CNGA3	NM_001298.3(CNGA3):c.625T>C:p.Ser209Pro	coding	Pathogenic
2	98391958	C	T	C98391958T	CNGA3	NM_001298.3(CNGA3):c.661C>T:p.Arg221Ter	coding	Pathogenic
2	98391964	C	G	C98391964G	CNGA3	NM_001298.3(CNGA3):c.667C>G:p.Arg223Gly	coding	Pathogenic
2	98391964	C	T	C98391964T	CNGA3	NM_001298.3(CNGA3):c.667C>T:p.Arg223Trp	coding	Pathogenic
2	98391965	G	A	G98391965A	CNGA3	NM_001298.3(CNGA3):c.668G>A:p.Arg223Gln	coding	Pathogenic
2	98395874	A	T	A98395874T	CNGA3	NM_001298.3(CNGA3):c.704A>T:p.Asp235Val	coding	Pathogenic
2	98395948	G	A	G98395948A	CNGA3	NM_001298.3(CNGA3):c.778G>A:p.Asp260Asn	coding	Pathogenic/Likely_pathogenic
2	98395960	T	A	T98395960A	CNGA3	NM_001298.3(CNGA3):c.790T>A:p.Leu264Ile	coding	Benign
2	98395999	C	T	C98395999T	CNGA3	NM_001298.3(CNGA3):c.829C>T:p.Arg277Cys	coding	Pathogenic/Likely_pathogenic
2	98396000	G	A	G98396000A	CNGA3	NM_001298.3(CNGA3):c.830G>A:p.Arg277His	coding	Pathogenic
2	98396017	C	T	C98396017T	CNGA3	NM_001298.3(CNGA3):c.847C>T:p.Arg283Trp	coding	Pathogenic/Likely_pathogenic
2	98396018	G	A	G98396018A	CNGA3	NM_001298.3(CNGA3):c.848G>A:p.Arg283Gln	coding	Pathogenic
2	98396042	C	G	C98396042G	CNGA3	NM_001298.3(CNGA3):c.872C>G:p.Thr291Arg	coding	Pathogenic
2	98396076	G	T	G98396076T	CNGA3	NM_001298.3(CNGA3):c.906G>T:p.Arg302Ser	coding	Pathogenic
2	98396125	T	C	T98396125C	CNGA3	NM_001298.3(CNGA3):c.955T>C:p.Cys319Arg	coding	Pathogenic
2	98396155	G	T	G98396155T	CNGA3	NM_001298.3(CNGA3):c.985G>T:p.Gly329Cys	coding	Pathogenic
2	98396191	T	C	T98396191C	CNGA3	NM_001298.3(CNGA3):c.1021T>C:p.Ser341Pro	coding	Pathogenic
2	98396284	C	T	C98396284T	CNGA3	NM_001298.3(CNGA3):c.1114C>T:p.Pro372Ser	coding	Pathogenic
2	98396398	C	T	C98396398T	CNGA3	NM_001298.3(CNGA3):c.1228C>T:p.Arg410Trp	coding	Pathogenic
2	98396425	T	C	T98396425C	CNGA3	NM_001298.3(CNGA3):c.1255T>C:p.Ser419Pro	coding	Pathogenic
2	98396449	C	T	C98396449T	CNGA3	NM_001298.3(CNGA3):c.1279C>T:p.Arg427Cys	coding	Pathogenic
2	98396476	C	T	C98396476T	CNGA3	NM_001298.3(CNGA3):c.1306C>T:p.Arg436Trp	coding	Pathogenic
2	98396485	C	T	C98396485T	CNGA3	NM_001298.3(CNGA3):c.1315C>T:p.Arg439Trp	coding	Pathogenic
2	98396490	G	A	G98396490A	CNGA3	NM_001298.3(CNGA3):c.1320G>A:p.Trp440Ter	coding	Pathogenic
2	98396504	G	A	G98396504A	CNGA3	NM_001298.3(CNGA3):c.1334G>A:p.Trp445Ter	coding	Pathogenic
2	98396755	G	A	G98396755A	CNGA3	NM_001298.3(CNGA3):c.1585G>A:p.Val529Met	coding	Pathogenic
2	98396796	C	T	C98396796T	CNGA3	NM_001298.3(CNGA3):c.1626C>T:p.Ser542=	coding	Benign
2	98396811	C	A	C98396811A	CNGA3	NM_001298.3(CNGA3):c.1641C>A:p.Phe547Leu	coding	Pathogenic/Likely_pathogenic
2	98396812	G	A	G98396812A	CNGA3	NM_001298.3(CNGA3):c.1642G>A:p.Gly548Arg	coding	Pathogenic
2	98396858	G	A	G98396858A	CNGA3	NM_001298.3(CNGA3):c.1688G>A:p.Arg563His	coding	Pathogenic
2	98396864	C	T	C98396864T	CNGA3	NM_001298.3(CNGA3):c.1694C>T:p.Thr565Met	coding	Pathogenic
2	98396876	G	A	G98396876A	CNGA3	NM_001298.3(CNGA3):c.1706G>A:p.Arg569His	coding	Pathogenic
2	98396916	C	T	C98396916T	CNGA3	NM_001298.3(CNGA3):c.1746C>T:p.Asp582=	coding	Benign/Likely_benign
2	98396938	G	A	G98396938A	CNGA3	NM_001298.3(CNGA3):c.1768G>A:p.Glu590Lys	coding	Pathogenic
2	98396947	G	A	G98396947A	CNGA3	NM_001298.3(CNGA3):c.1777G>A:p.Glu593Lys	coding	Pathogenic
2	98397829	C	T	C98397829T	CNGA3	NM_001298.3(CNGA3):c.*574C>T	noncoding	Benign
2	98398093	T	C	T98398093C	CNGA3	NM_001298.3(CNGA3):c.*838T>C	noncoding	Benign
2	98520695	C	T	C98520695T	INPP4A	NM_001134225.2(INPP4A):c.115C>T:p.Gln39Ter	coding	Pathogenic
2	98539535	T	C	T98539535C	INPP4A	NM_001134225.2(INPP4A):c.678T>C:p.Gly226=	coding	Benign
2	98543988	C	T	C98543988T	INPP4A	NM_001134225.2(INPP4A):c.930C>T:p.Thr310=	coding	Benign
2	98554381	T	C	T98554381C	INPP4A	NM_001134225.2(INPP4A):c.1458T>C:p.Thr486=	coding	Benign
2	98563574	C	T	C98563574T	INPP4A	NM_001134225.2(INPP4A):c.1965C>T:p.Ser655=	coding	Benign
2	98563577	G	C	G98563577C	INPP4A	NM_001134225.2(INPP4A):c.1968G>C:p.Ala656=	coding	Benign
2	98564645	C	T	C98564645T	INPP4A	NM_001134225.2(INPP4A):c.2034C>T:p.Thr678=	coding	Benign
2	98564771	G	A	G98564771A	INPP4A	NM_001134225.2(INPP4A):c.2152+8G>A	noncoding	Benign
2	98572867	G	C	G98572867C	INPP4A	NM_001134225.2(INPP4A):c.2571G>C:p.Leu857=	coding	Benign
2	98601088	C	T	C98601088T	COA5	NM_001008215.3(COA5):c.184-295G>A	noncoding	Benign
2	98604134	C	G	C98604134G	COA5	NM_001008215.3(COA5):c.157G>C:p.Ala53Pro	coding	Pathogenic
2	98604244	T	C	T98604244C	COA5	NM_001008215.3(COA5):c.100-53A>G	noncoding	Benign
2	98608535	C	G	C98608535G	COA5	NC_000002.12:g.98608535C>G	noncoding	Benign
2	98608705	C	T	C98608705T	COA5	NM_014044.7(UNC50):c.-26C>T	noncoding	Benign
2	98639948	C	T	C98639948T	MGAT4A	NM_012214.3(MGAT4A):c.1182G>A:p.Ala394=	coding	Benign
2	98655513	T	C	T98655513C	MGAT4A	NM_012214.3(MGAT4A):c.706A>G:p.Thr236Ala	coding	Benign
2	98796191	C	T	C98796191T	CRACDL	NM_207362.3(CRACDL):c.2678G>A:p.Arg893Gln	coding	Benign
2	98797362	G	A	G98797362A	CRACDL	NM_207362.3(CRACDL):c.2592C>T:p.Pro864=	coding	Benign
2	99065002	A	C	A99065002C	TSGA10	NM_025244.4(TSGA10):c.1341T>G:p.Thr447=	coding	Benign
2	99068884	A	C	A99068884C	TSGA10	NM_025244.4(TSGA10):c.1218+4T>G	noncoding	Benign
2	99071838	G	A	G99071838A	TSGA10	NM_025244.4(TSGA10):c.975C>T:p.Asp325=	coding	Benign
2	99078791	A	G	A99078791G	TSGA10	NM_025244.4(TSGA10):c.750T>C:p.Ile250=	coding	Benign
2	99155070	C	T	C99155070T	LIPT1	NM_145199.3(LIPT1):c.-2+19C>T	noncoding	Benign
2	99156388	C	T	C99156388T	LIPT1	NM_145199.3(LIPT1):c.-2+1337C>T	noncoding	Benign
2	99156389	G	A	G99156389A	LIPT1	NM_145199.3(LIPT1):c.-2+1338G>A	noncoding	Benign
2	99156412	T	C	T99156412C	LIPT1	NM_145199.3(LIPT1):c.-2+1361T>C	noncoding	Benign
2	99162249	C	G	C99162249G	LIPT1	NM_145199.3(LIPT1):c.292C>G:p.Arg98Gly	coding	Pathogenic
2	99162272	A	G	A99162272G	LIPT1	NM_145199.3(LIPT1):c.315A>G:p.Thr105=	coding	Benign
2	99162492	A	G	A99162492G	LIPT1	NM_145199.3(LIPT1):c.535A>G:p.Thr179Ala	coding	Pathogenic
2	99162522	T	C	T99162522C	LIPT1	NM_145199.3(LIPT1):c.565T>C:p.Leu189=	coding	Benign
2	99162570	A	G	A99162570G	LIPT1	NM_145199.3(LIPT1):c.613A>G:p.Thr205Ala	coding	Benign
2	99162668	T	C	T99162668C	LIPT1	NM_145199.3(LIPT1):c.711T>C:p.Ala237=	coding	Benign
2	99162832	C	G	C99162832G	LIPT1	NM_145199.3(LIPT1):c.875C>G:p.Ser292Ter	coding	Pathogenic
2	99360559	A	T	A99360559T	EIF5B	NM_015904.4(EIF5B):c.246+10A>T	noncoding	Benign
2	99361611	A	T	A99361611T	EIF5B	NM_015904.4(EIF5B):c.710A>T:p.Glu237Val	coding	Benign
2	99364399	T	C	T99364399C	EIF5B	NM_015904.4(EIF5B):c.1266T>C:p.Thr422=	coding	Benign
2	99376556	A	G	A99376556G	EIF5B	NM_015904.4(EIF5B):c.1762A>G:p.Ser588Gly	coding	Benign
2	99402793	A	T	A99402793T	REV1	NM_016316.4(REV1):c.3392T>A:p.Leu1131His	coding	Benign
2	99404456	T	C	T99404456C	REV1	NM_016316.4(REV1):c.3033A>G:p.Pro1011=	coding	Benign
2	100006808	C	T	C100006808T	AFF3	NM_002285.3(AFF3):c.697G>A:p.Ala233Thr	coding	Pathogenic
2	100006824	G	A	G100006824A	AFF3	NM_002285.3(AFF3):c.681C>T:p.Val227=	coding	Benign
2	100295518	C	T	C100295518T	LONRF2	NM_198461.4(LONRF2):c.1512G>A:p.Leu504=	coding	Benign
2	100470489	A	G	A100470489G	NMS	NM_001011717.1(NMS):c.1A>G:p.Met1Val	coding	Benign
2	100968275	C	T	C100968275T	NPAS2	NM_002518.4(NPAS2):c.908-6C>T	noncoding	Benign
2	100974814	A	G	A100974814G	NPAS2	NM_002518.4(NPAS2):c.1152A>G:p.Ser384=	coding	Benign
2	100974878	C	G	C100974878G	NPAS2	NM_002518.4(NPAS2):c.1216C>G:p.His406Asp	coding	Benign
2	100974889	G	A	G100974889A	NPAS2	NM_002518.4(NPAS2):c.1227G>A:p.Ser409=	coding	Benign
2	100974910	C	T	C100974910T	NPAS2	NM_002518.4(NPAS2):c.1248C>T:p.His416=	coding	Benign
2	100990771	T	C	T100990771C	NPAS2	NM_002518.4(NPAS2):c.2019-9T>C	noncoding	Benign
2	100990829	G	A	G100990829A	NPAS2	NM_002518.4(NPAS2):c.2068G>A:p.Ala690Thr	coding	Benign
2	100993350	C	T	C100993350T	NPAS2	NM_002518.4(NPAS2):c.2115C>T:p.Tyr705=	coding	Benign
2	100995572	C	T	C100995572T	NPAS2	NM_002518.4(NPAS2):c.2465C>T:p.Pro822Leu	coding	Benign
2	101008064	A	G	A101008064G	TBC1D8	NM_001330348.1(TBC1D8):c.3225T>C:p.Phe1075=	coding	Benign
2	101040286	C	T	C101040286T	TBC1D8	NM_001330348.1(TBC1D8):c.972G>A:p.Thr324=	coding	Benign
2	101054214	G	A	G101054214A	TBC1D8	NM_001330348.1(TBC1D8):c.525C>T:p.Val175=	coding	Benign
2	101418897	G	A	G101418897A	RFX8	NM_001145664.2(RFX8):c.305C>T:p.Pro102Leu	coding	Benign
2	101834405	G	A	G101834405A	MAP4K4	NM_145686.3(MAP4K4):c.640-4G>A	noncoding	Benign
2	101859759	G	A	G101859759A	MAP4K4	NM_145686.3(MAP4K4):c.1506G>A:p.Pro502=	coding	Benign
2	101887813	C	T	C101887813T	MAP4K4	NM_145686.3(MAP4K4):c.3474C>T:p.Ile1158=	coding	Benign
2	102009746	A	G	A102009746G	IL1R2	NM_004633.4(IL1R2):c.252A>G:p.Thr84=	coding	Benign
2	102019665	G	A	G102019665A	IL1R2	NM_004633.4(IL1R2):c.541G>A:p.Glu181Lys	coding	Benign
2	102022183	T	G	T102022183G	IL1R2	NM_004633.4(IL1R2):c.689-4T>G	noncoding	Benign
2	102171877	A	G	A102171877G	IL1R1	NM_000877.4(IL1R1):c.798A>G:p.Val266=	coding	Benign
2	102175500	C	T	C102175500T	IL1R1	NM_000877.4(IL1R1):c.1158C>T:p.Asp386=	coding	Benign
2	102212160	T	C	T102212160C	IL1RL2	NM_003854.4(IL1RL2):c.710T>C:p.Ile237Thr	coding	Benign
2	102225960	G	A	G102225960A	IL1RL2	NM_003854.4(IL1RL2):c.1054G>A:p.Val352Ile	coding	Benign
2	102340194	T	C	T102340194C	IL1RL1	NM_016232.5(IL1RL1):c.369T>C:p.Ser123=	coding	Benign
2	102340676	C	T	C102340676T	IL1RL1	NM_016232.5(IL1RL1):c.458C>T:p.Ala153Val	coding	Benign
2	102342258	G	A	G102342258A	IL1RL1	NM_016232.5(IL1RL1):c.646G>A:p.Ala216Thr	coding	Benign
2	102343318	C	T	C102343318T	IL1RL1	NM_016232.5(IL1RL1):c.873C>T:p.Asp291=	coding	Benign
2	102347959	A	G	A102347959G	IL1RL1	NM_016232.5(IL1RL1):c.985A>G:p.Ile329Val	coding	Benign
2	102349148	G	A	G102349148A	IL1RL1	NM_016232.5(IL1RL1):c.1187G>A:p.Arg396His	coding	Benign
2	102351579	G	A	G102351579A	IL1RL1	NM_016232.5(IL1RL1):c.1329G>A:p.Arg443=	coding	Benign
2	102351783	G	A	G102351783A	IL1RL1	NM_016232.5(IL1RL1):c.1533G>A:p.Lys511=	coding	Benign
2	102362681	C	G	C102362681G	IL18R1	NM_003855.5(IL18R1):c.21C>G:p.Pro7=	coding	Benign
2	102375947	C	T	C102375947T	IL18R1	NM_003855.5(IL18R1):c.509C>T:p.Thr170Met	coding	Benign
2	102445316	G	A	G102445316A	IL18RAP	NM_003853.3(IL18RAP):c.1048G>A:p.Val350Ile	coding	Benign
2	102473809	T	C	T102473809C	SLC9A4	NM_001011552.4(SLC9A4):c.50T>C:p.Leu17Pro	coding	Benign
2	102718524	G	C	G102718524C	MFSD9	NM_032718.5(MFSD9):c.1321C>G:p.Pro441Ala	coding	Benign
2	102718719	C	T	C102718719T	MFSD9	NM_032718.5(MFSD9):c.1126G>A:p.Ala376Thr	coding	Benign
2	102726887	C	A	C102726887A	MFSD9	NM_032718.5(MFSD9):c.385G>T:p.Ala129Ser	coding	Benign
2	102764375	G	A	G102764375A	TMEM182	NM_144632.5(TMEM182):c.279G>A:p.Pro93=	coding	Benign
2	104856178	C	A	C104856178A	POU3F3	NM_006236.3(POU3F3):c.668C>A:p.Ser223Ter	coding	Pathogenic
2	104856595	G	T	G104856595T	POU3F3	NM_006236.3(POU3F3):c.1085G>T:p.Arg362Leu	coding	Pathogenic
2	104856794	C	A	C104856794A	POU3F3	NM_006236.3(POU3F3):c.1284C>A:p.Cys428Ter	coding	Pathogenic
2	104856877	A	G	A104856877G	POU3F3	NM_006236.3(POU3F3):c.1367A>G:p.Asn456Ser	coding	Pathogenic
2	105269464	C	T	C105269464T	TGFBRAP1	NM_004257.6(TGFBRAP1):c.2214G>A:p.Val738=	coding	Benign
2	105272937	C	T	C105272937T	TGFBRAP1	NM_004257.6(TGFBRAP1):c.1890G>A:p.Lys630=	coding	Benign
2	105296492	G	C	G105296492C	TGFBRAP1	NM_004257.6(TGFBRAP1):c.902C>G:p.Thr301Arg	coding	Benign
2	105307807	C	T	C105307807T	TGFBRAP1	NM_004257.6(TGFBRAP1):c.495G>A:p.Ser165=	coding	Benign
2	105307840	G	A	G105307840A	TGFBRAP1	NM_004257.6(TGFBRAP1):c.462C>T:p.Tyr154=	coding	Benign
2	105361304	G	A	G105361304A	FHL2	NM_001318895.3(FHL2):c.819C>T:p.Pro273=	coding	Benign
2	105361319	G	A	G105361319A	FHL2	NM_001318895.3(FHL2):c.804C>T:p.Asp268=	coding	Benign
2	105361444	G	C	G105361444C	FHL2	NM_001318895.3(FHL2):c.689-10C>G	noncoding	Benign
2	105361446	G	C	G105361446C	FHL2	NM_001318895.3(FHL2):c.689-12C>G	noncoding	Benign
2	105363273	C	A	C105363273A	FHL2	NM_001318895.3(FHL2):c.688+12G>T	noncoding	Benign
2	105363295	G	A	G105363295A	FHL2	NM_001318895.3(FHL2):c.678C>T:p.Asn226=	coding	Benign
2	105363443	C	T	C105363443T	FHL2	NM_001318895.3(FHL2):c.530G>A:p.Arg177Gln	coding	Benign
2	105367669	C	G	C105367669G	FHL2	NM_201555.2(FHL2):c.402G>C:p.Gln134His	coding	Benign
2	105373569	G	A	G105373569A	FHL2	NM_001318895.3(FHL2):c.321C>T:p.Thr107=	coding	Benign/Likely_benign
2	105373683	C	T	C105373683T	FHL2	NM_001318895.3(FHL2):c.207G>A:p.Ser69=	coding	Benign/Likely_benign
2	105373698	G	A	G105373698A	FHL2	NM_001318895.3(FHL2):c.192C>T:p.Ala64=	coding	Benign/Likely_benign
2	105386397	G	A	G105386397A	FHL2	NM_001318895.3(FHL2):c.120C>T:p.Cys40=	coding	Benign
2	105386408	C	A	C105386408A	FHL2	NM_001318895.3(FHL2):c.109G>T:p.Ala37Ser	coding	Benign/Likely_benign
2	105386409	G	A	G105386409A	FHL2	NM_201555.2(FHL2):c.108C>T:p.Phe36=	coding	Benign
2	105386432	C	T	C105386432T	FHL2	NM_001318895.3(FHL2):c.85G>A:p.Val29Met	coding	Benign/Likely_benign
2	105386433	G	A	G105386433A	FHL2	NM_001318895.3(FHL2):c.84C>T:p.Cys28=	coding	Benign/Likely_benign
2	106073912	G	A	G106073912A	ECRG4	NM_032411.3(ECRG4):c.154G>A:p.Ala52Thr	coding	Benign
2	107871445	A	G	A107871445G	RGPD4	NM_182588.2(RGPD4):c.3441A>G:p.Leu1147=	coding	Benign
2	107988298	A	G	A107988298G	SLC5A7	NM_021815.5(SLC5A7):c.143A>G:p.Asp48Gly	coding	Pathogenic
2	107992192	A	G	A107992192G	SLC5A7	NM_021815.5(SLC5A7):c.265A>G:p.Ile89Val	coding	Benign
2	107997863	T	C	T107997863C	SLC5A7	NM_021815.5(SLC5A7):c.474T>C:p.Asp158=	coding	Benign
2	107997866	G	A	G107997866A	SLC5A7	NM_021815.5(SLC5A7):c.477G>A:p.Val159=	coding	Benign
2	108002012	A	G	A108002012G	SLC5A7	NM_021815.5(SLC5A7):c.713A>G:p.Tyr238Cys	coding	Benign
2	108002058	C	T	C108002058T	SLC5A7	NM_021815.5(SLC5A7):c.741+18C>T	noncoding	Benign
2	108006133	C	T	C108006133T	SLC5A7	NM_021815.5(SLC5A7):c.826C>T:p.Leu276=	coding	Benign
2	108008651	G	A	G108008651A	SLC5A7	NM_021815.5(SLC5A7):c.1082G>A:p.Arg361Gln	coding	Pathogenic
2	108010363	C	T	C108010363T	SLC5A7	NM_021815.5(SLC5A7):c.1245C>T:p.Ile415=	coding	Benign
2	108010558	A	G	A108010558G	SLC5A7	NM_021815.5(SLC5A7):c.1440A>G:p.Lys480=	coding	Benign
2	108247302	G	A	G108247302A	SULT1C3	NM_001008743.3(SULT1C3):c.108G>A:p.Trp36Ter	coding	Benign
2	108252454	G	A	G108252454A	SULT1C3	NM_001008743.3(SULT1C3):c.262G>A:p.Ala88Thr	coding	Benign
2	108258814	G	A	G108258814A	SULT1C3	NM_001008743.3(SULT1C3):c.607G>A:p.Glu203Lys	coding	Benign
2	108293799	C	T	C108293799T	SULT1C2	NM_001056.4(SULT1C2):c.132C>T:p.Ile44=	coding	Benign
2	108294279	G	A	G108294279A	SULT1C2	NM_001056.4(SULT1C2):c.202G>A:p.Val68Met	coding	Benign
2	108304705	G	A	G108304705A	SULT1C2	NM_001056.4(SULT1C2):c.502+5G>A	noncoding	Benign
2	108305433	C	T	C108305433T	SULT1C2	NM_001056.4(SULT1C2):c.616C>T:p.Arg206Trp	coding	Benign
2	108452435	C	G	C108452435G	GCC2	NM_181453.4(GCC2):c.185C>G:p.Pro62Arg	coding	Benign
2	108470109	A	G	A108470109G	GCC2	NM_181453.4(GCC2):c.780A>G:p.Glu260=	coding	Benign
2	108470358	A	G	A108470358G	GCC2	NM_181453.4(GCC2):c.1029A>G:p.Glu343=	coding	Benign
2	108471107	C	G	C108471107G	GCC2	NM_181453.4(GCC2):c.1778C>G:p.Thr593Ser	coding	Benign
2	108482461	A	G	A108482461G	GCC2	NM_181453.4(GCC2):c.3345+10A>G	noncoding	Benign
2	108483075	C	G	C108483075G	GCC2	NM_181453.4(GCC2):c.3359C>G:p.Thr1120Ser	coding	Benign
2	108492780	G	T	G108492780T	GCC2	NM_181453.4(GCC2):c.4437G>T:p.Pro1479=	coding	Benign
2	108680689	C	G	C108680689G	LIMS1	NM_001193485.3(LIMS1):c.974-6C>G	noncoding	Benign
2	108680724	G	A	G108680724A	LIMS1	NM_001193485.3(LIMS1):c.1003G>A:p.Val335Met	coding	Benign
2	108719562	C	T	C108719562T	RANBP2	NM_006267.5(RANBP2):c.-45C>T	noncoding	Benign
2	108719689	C	G	C108719689G	RANBP2	NM_006267.5(RANBP2):c.72+11C>G	noncoding	Benign
2	108729126	T	A	T108729126A	RANBP2	NM_006267.5(RANBP2):c.73-6T>A	noncoding	Benign/Likely_benign
2	108730858	C	G	C108730858G	RANBP2	NM_006267.5(RANBP2):c.225C>G:p.Asn75Lys	coding	Benign
2	108730871	G	A	G108730871A	RANBP2	NM_006267.5(RANBP2):c.238G>A:p.Val80Ile	coding	Benign/Likely_benign
2	108731491	T	G	T108731491G	RANBP2	NM_006267.5(RANBP2):c.405+17T>G	noncoding	Benign
2	108736086	G	A	G108736086A	RANBP2	NM_006267.5(RANBP2):c.637-18G>A	noncoding	Benign
2	108736195	T	C	T108736195C	RANBP2	NM_006267.5(RANBP2):c.728T>C:p.Met243Thr	coding	Benign
2	108740522	G	C	G108740522C	RANBP2	NM_006267.5(RANBP2):c.816G>C:p.Leu272Phe	coding	Benign
2	108740540	G	A	G108740540A	RANBP2	NM_006267.5(RANBP2):c.834G>A:p.Leu278=	coding	Benign
2	108748907	A	T	A108748907T	RANBP2	NM_006267.5(RANBP2):c.1064-13A>T	noncoding	Benign
2	108748943	C	T	C108748943T	RANBP2	NM_006267.5(RANBP2):c.1087C>T:p.Arg363Cys	coding	Benign
2	108748964	A	G	A108748964G	RANBP2	NM_006267.5(RANBP2):c.1108A>G:p.Lys370Glu	coding	Benign
2	108749065	C	T	C108749065T	RANBP2	NM_006267.5(RANBP2):c.1209C>T:p.Ser403=	coding	Benign/Likely_benign
2	108751521	A	G	A108751521G	RANBP2	NM_006267.5(RANBP2):c.1456-7A>G	noncoding	Benign
2	108753428	A	G	A108753428G	RANBP2	NM_006267.5(RANBP2):c.1920A>G:p.Ala640=	coding	Benign/Likely_benign
2	108753474	A	G	A108753474G	RANBP2	NM_006267.5(RANBP2):c.1966A>G:p.Ile656Val	coding	Pathogenic
2	108753806	A	G	A108753806G	RANBP2	NM_006267.5(RANBP2):c.2056-19A>G	noncoding	Benign
2	108753942	A	G	A108753942G	RANBP2	NM_006267.5(RANBP2):c.2173A>G:p.Ser725Gly	coding	Benign/Likely_benign
2	108754914	C	T	C108754914T	RANBP2	NM_006267.5(RANBP2):c.2212C>T:p.Pro738Ser	coding	Benign
2	108755032	A	G	A108755032G	RANBP2	NM_006267.5(RANBP2):c.2330A>G:p.His777Arg	coding	Benign
2	108755041	C	T	C108755041T	RANBP2	NM_006267.5(RANBP2):c.2339C>T:p.Pro780Leu	coding	Benign
2	108755053	G	A	G108755053A	RANBP2	NM_006267.5(RANBP2):c.2351G>A:p.Arg784Lys	coding	Benign/Likely_benign
2	108755198	G	A	G108755198A	RANBP2	NM_006267.5(RANBP2):c.2405G>A:p.Arg802Gln	coding	Benign
2	108758466	T	C	T108758466C	RANBP2	NM_006267.5(RANBP2):c.2520T>C:p.Arg840=	coding	Benign/Likely_benign
2	108758496	A	G	A108758496G	RANBP2	NM_006267.5(RANBP2):c.2550A>G:p.Ser850=	coding	Benign
2	108758505	T	A	T108758505A	RANBP2	NM_006267.5(RANBP2):c.2559T>A:p.Asp853Glu	coding	Benign
2	108758508	A	G	A108758508G	RANBP2	NM_006267.5(RANBP2):c.2562A>G:p.Gly854=	coding	Benign
2	108762123	A	G	A108762123G	RANBP2	NM_006267.5(RANBP2):c.2625A>G:p.Val875=	coding	Benign
2	108763494	G	A	G108763494A	RANBP2	NM_006267.5(RANBP2):c.2955G>A:p.Pro985=	coding	Benign
2	108763521	A	T	A108763521T	RANBP2	NM_006267.5(RANBP2):c.2982A>T:p.Ala994=	coding	Benign
2	108763572	G	A	G108763572A	RANBP2	NM_006267.5(RANBP2):c.3033G>A:p.Pro1011=	coding	Benign/Likely_benign
2	108763701	G	T	G108763701T	RANBP2	NM_006267.5(RANBP2):c.3162G>T:p.Gln1054His	coding	Benign
2	108763702	C	T	C108763702T	RANBP2	NM_006267.5(RANBP2):c.3163C>T:p.Pro1055Ser	coding	Benign
2	108763950	A	C	A108763950C	RANBP2	NM_006267.5(RANBP2):c.3411A>C:p.Pro1137=	coding	Benign
2	108764000	A	T	A108764000T	RANBP2	NM_006267.5(RANBP2):c.3461A>T:p.His1154Leu	coding	Benign
2	108764040	T	C	T108764040C	RANBP2	NM_006267.5(RANBP2):c.3501T>C:p.Asp1167=	coding	Benign
2	108764136	G	A	G108764136A	RANBP2	NM_006267.5(RANBP2):c.3597G>A:p.Ala1199=	coding	Benign
2	108764151	C	T	C108764151T	RANBP2	NM_006267.5(RANBP2):c.3612C>T:p.Phe1204=	coding	Benign
2	108764494	G	C	G108764494C	RANBP2	NM_006267.5(RANBP2):c.3955G>C:p.Ala1319Pro	coding	Benign
2	108764982	A	G	A108764982G	RANBP2	NM_006267.5(RANBP2):c.4443A>G:p.Gly1481=	coding	Benign
2	108765069	A	G	A108765069G	RANBP2	NM_006267.5(RANBP2):c.4530A>G:p.Leu1510=	coding	Benign/Likely_benign
2	108765265	A	T	A108765265T	RANBP2	NM_006267.5(RANBP2):c.4726A>T:p.Thr1576Ser	coding	Benign/Likely_benign
2	108765299	G	T	G108765299T	RANBP2	NM_006267.5(RANBP2):c.4760G>T:p.Gly1587Val	coding	Benign
2	108765365	A	T	A108765365T	RANBP2	NM_006267.5(RANBP2):c.4826A>T:p.Gln1609Leu	coding	Benign
2	108765756	C	T	C108765756T	RANBP2	NM_006267.5(RANBP2):c.5217C>T:p.Ala1739=	coding	Benign/Likely_benign
2	108765906	T	G	T108765906G	RANBP2	NM_006267.5(RANBP2):c.5367T>G:p.Val1789=	coding	Benign
2	108766480	T	A	T108766480A	RANBP2	NM_006267.5(RANBP2):c.5941T>A:p.Ser1981Thr	coding	Benign
2	108766809	G	A	G108766809A	RANBP2	NM_006267.5(RANBP2):c.6270G>A:p.Thr2090=	coding	Benign
2	108767148	G	A	G108767148A	RANBP2	NM_006267.5(RANBP2):c.6609G>A:p.Ala2203=	coding	Benign
2	108767151	C	A	C108767151A	RANBP2	NM_006267.5(RANBP2):c.6612C>A:p.Ala2204=	coding	Benign/Likely_benign
2	108767151	C	T	C108767151T	RANBP2	NM_006267.5(RANBP2):c.6612C>T:p.Ala2204=	coding	Benign
2	108767202	A	G	A108767202G	RANBP2	NM_006267.5(RANBP2):c.6663A>G:p.Thr2221=	coding	Benign
2	108767711	C	G	C108767711G	RANBP2	NM_006267.5(RANBP2):c.7172C>G:p.Thr2391Ser	coding	Benign
2	108768013	A	C	A108768013C	RANBP2	NM_006267.5(RANBP2):c.7474A>C:p.Thr2492Pro	coding	Benign
2	108768038	C	T	C108768038T	RANBP2	NM_006267.5(RANBP2):c.7499C>T:p.Thr2500Ile	coding	Benign/Likely_benign
2	108768209	A	G	A108768209G	RANBP2	NM_006267.5(RANBP2):c.7670A>G:p.Asn2557Ser	coding	Benign
2	108768293	T	C	T108768293C	RANBP2	NM_006267.5(RANBP2):c.7754T>C:p.Ile2585Thr	coding	Benign
2	108768392	A	G	A108768392G	RANBP2	NM_006267.5(RANBP2):c.7849+4A>G	noncoding	Benign
2	108771695	T	G	T108771695G	RANBP2	NM_006267.5(RANBP2):c.7850-6T>G	noncoding	Benign
2	108771714	A	G	A108771714G	RANBP2	NM_006267.5(RANBP2):c.7863A>G:p.Lys2621=	coding	Benign
2	108775846	A	G	A108775846G	RANBP2	NM_006267.5(RANBP2):c.8407A>G:p.Ile2803Val	coding	Benign
2	108781255	G	T	G108781255T	RANBP2	NM_006267.5(RANBP2):c.8600-14G>T	noncoding	Benign
2	108781340	G	A	G108781340A	RANBP2	NM_006267.5(RANBP2):c.8671G>A:p.Gly2891Ser	coding	Benign
2	108783811	C	T	C108783811T	RANBP2	NM_006267.5(RANBP2):c.9585C>T:p.Gly3195=	coding	Benign
2	108894481	G	A	G108894481A	EDAR	NM_022336.4(EDAR):c.*2426C>T	noncoding	Benign
2	108894766	A	G	A108894766G	EDAR	NM_022336.4(EDAR):c.*2141T>C	noncoding	Benign
2	108894829	A	G	A108894829G	EDAR	NM_022336.4(EDAR):c.*2078T>C	noncoding	Benign
2	108895007	G	A	G108895007A	EDAR	NM_022336.4(EDAR):c.*1900C>T	noncoding	Benign/Likely_benign
2	108895133	C	T	C108895133T	EDAR	NM_022336.4(EDAR):c.*1774G>A	noncoding	Benign
2	108895229	G	A	G108895229A	EDAR	NM_022336.4(EDAR):c.*1678C>T	noncoding	Benign
2	108895309	A	G	A108895309G	EDAR	NM_022336.4(EDAR):c.*1598T>C	noncoding	Benign
2	108895659	C	A	C108895659A	EDAR	NM_022336.4(EDAR):c.*1248G>T	noncoding	Benign/Likely_benign
2	108895774	G	A	G108895774A	EDAR	NM_022336.4(EDAR):c.*1133C>T	noncoding	Benign
2	108895778	T	C	T108895778C	EDAR	NM_022336.4(EDAR):c.*1129A>G	noncoding	Benign
2	108895800	G	A	G108895800A	EDAR	NM_022336.4(EDAR):c.*1107C>T	noncoding	Benign/Likely_benign
2	108895908	G	A	G108895908A	EDAR	NM_022336.4(EDAR):c.*999C>T	noncoding	Benign/Likely_benign
2	108895972	G	A	G108895972A	EDAR	NM_022336.4(EDAR):c.*935C>T	noncoding	Benign/Likely_benign
2	108896012	G	A	G108896012A	EDAR	NM_022336.4(EDAR):c.*895C>T	noncoding	Benign/Likely_benign
2	108896150	A	G	A108896150G	EDAR	NM_022336.4(EDAR):c.*757T>C	noncoding	Benign/Likely_benign
2	108896579	C	T	C108896579T	EDAR	NM_022336.4(EDAR):c.*328G>A	noncoding	Benign/Likely_benign
2	108896653	G	A	G108896653A	EDAR	NM_022336.4(EDAR):c.*254C>T	noncoding	Benign
2	108896865	C	A	C108896865A	EDAR	NM_022336.4(EDAR):c.*42G>T	noncoding	Benign
2	108896949	C	T	C108896949T	EDAR	NM_022336.4(EDAR):c.1305G>A:p.Ala435=	coding	Benign
2	108896954	A	C	A108896954C	EDAR	NM_022336.4(EDAR):c.1300T>G:p.Trp434Gly	coding	Pathogenic
2	108896995	C	T	C108896995T	EDAR	NM_022336.4(EDAR):c.1259G>A:p.Arg420Gln	coding	Pathogenic/Likely_pathogenic
2	108897046	G	A	G108897046A	EDAR	NM_022336.4(EDAR):c.1208C>T:p.Thr403Met	coding	Pathogenic
2	108897075	G	A	G108897075A	EDAR	NM_022336.4(EDAR):c.1179C>T:p.Asp393=	coding	Benign
2	108897110	C	T	C108897110T	EDAR	NM_022336.4(EDAR):c.1144G>A:p.Gly382Ser	coding	Pathogenic
2	108897111	G	A	G108897111A	EDAR	NM_022336.4(EDAR):c.1143C>T:p.Phe381=	coding	Benign
2	108897116	T	G	T108897116G	EDAR	NM_022336.4(EDAR):c.1138A>C:p.Ser380Arg	coding	Benign
2	108897130	C	T	C108897130T	EDAR	NM_022336.4(EDAR):c.1124G>A:p.Arg375His	coding	Pathogenic
2	108897133	C	T	C108897133T	EDAR	NM_022336.4(EDAR):c.1121G>A:p.Trp374Ter	coding	Pathogenic
2	108897145	A	G	A108897145G	EDAR	NM_022336.4(EDAR):c.1109T>C:p.Val370Ala	coding	Benign
2	108897181	C	T	C108897181T	EDAR	NM_022336.4(EDAR):c.1073G>A:p.Arg358Gln	coding	Pathogenic
2	108897182	G	A	G108897182A	EDAR	NM_022336.4(EDAR):c.1072C>T:p.Arg358Ter	coding	Pathogenic
2	108897194	C	A	C108897194A	EDAR	NM_022336.4(EDAR):c.1060G>T:p.Glu354Ter	coding	Pathogenic
2	108897198	G	A	G108897198A	EDAR	NM_022336.4(EDAR):c.1056C>T:p.Cys352=	coding	Benign
2	108906264	G	A	G108906264A	EDAR	NM_022336.4(EDAR):c.1024+44C>T	noncoding	Benign
2	108906353	T	A	T108906353A	EDAR	NM_022336.4(EDAR):c.979A>T:p.Lys327Ter	coding	Pathogenic
2	108907863	G	A	G108907863A	EDAR	NM_022336.4(EDAR):c.960C>T:p.Ala320=	coding	Benign/Likely_benign
2	108907892	C	A	C108907892A	EDAR	NM_022336.4(EDAR):c.931G>T:p.Glu311Ter	coding	Pathogenic
2	108907920	G	T	G108907920T	EDAR	NM_022336.4(EDAR):c.903C>A:p.Cys301Ter	coding	Pathogenic
2	108907952	C	T	C108907952T	EDAR	NM_022336.4(EDAR):c.871G>A:p.Ala291Thr	coding	Pathogenic
2	108907953	G	A	G108907953A	EDAR	NM_022336.4(EDAR):c.870C>T:p.Pro290=	coding	Benign
2	108907974	G	A	G108907974A	EDAR	NM_022336.4(EDAR):c.849C>T:p.Ser283=	coding	Benign
2	108908001	G	T	G108908001T	EDAR	NM_022336.4(EDAR):c.822C>A:p.Ser274=	coding	Benign/Likely_benign
2	108908010	A	G	A108908010G	EDAR	NM_022336.4(EDAR):c.813T>C:p.Asp271=	coding	Benign
2	108910459	C	T	C108910459T	EDAR	NM_022336.4(EDAR):c.803+1G>A	noncoding	Pathogenic
2	108910513	G	A	G108910513A	EDAR	NM_022336.4(EDAR):c.750C>T:p.Ser250=	coding	Benign
2	108910527	C	T	C108910527T	EDAR	NM_022336.4(EDAR):c.736G>A:p.Val246Met	coding	Benign
2	108910631	G	A	G108910631A	EDAR	NM_022336.4(EDAR):c.731-99C>T	noncoding	Benign
2	108910783	C	T	C108910783T	EDAR	NM_022336.4(EDAR):c.723G>A:p.Glu241=	coding	Benign
2	108910917	A	G	A108910917G	EDAR	NM_022336.4(EDAR):c.655+30T>C	noncoding	Benign
2	108912677	C	T	C108912677T	EDAR	NM_022336.4(EDAR):c.529+1G>A	noncoding	Pathogenic
2	108923367	C	T	C108923367T	EDAR	NM_022336.4(EDAR):c.442+1G>A	noncoding	Pathogenic
2	108923406	C	T	C108923406T	EDAR	NM_022336.4(EDAR):c.404G>A:p.Cys135Tyr	coding	Pathogenic
2	108923457	C	T	C108923457T	EDAR	NM_022336.4(EDAR):c.357-4G>A	noncoding	Benign/Likely_benign
2	108929216	C	T	C108929216T	EDAR	NM_022336.4(EDAR):c.338G>A:p.Cys113Tyr	coding	Pathogenic
2	108929225	T	G	T108929225G	EDAR	NM_022336.4(EDAR):c.329A>C:p.Asp110Ala	coding	Pathogenic
2	108929235	T	C	T108929235C	EDAR	NM_022336.4(EDAR):c.319A>G:p.Met107Val	coding	Benign/Likely_benign
2	108929262	G	A	G108929262A	EDAR	NM_022336.4(EDAR):c.292C>T:p.Arg98Trp	coding	Pathogenic/Likely_pathogenic
2	108929276	C	G	C108929276G	EDAR	NM_022336.4(EDAR):c.278G>C:p.Cys93Ser	coding	Pathogenic
2	108929288	C	T	C108929288T	EDAR	NM_022336.4(EDAR):c.266G>A:p.Arg89His	coding	Pathogenic/Likely_pathogenic
2	108929311	T	C	T108929311C	EDAR	NM_022336.4(EDAR):c.243A>G:p.Lys81=	coding	Benign
2	108929342	C	T	C108929342T	EDAR	NM_022336.4(EDAR):c.212G>A:p.Cys71Tyr	coding	Pathogenic
2	108929347	G	A	G108929347A	RANBP2;EDAR	NM_022336.4(EDAR):c.207C>T:p.Tyr69=	coding	Benign/Likely_benign
2	108930201	G	T	G108930201T	EDAR	NM_022336.4(EDAR):c.93C>A:p.Cys31Ter	coding	Pathogenic
2	108930217	G	A	G108930217A	EDAR	NM_022336.4(EDAR):c.77C>T:p.Ala26Val	coding	Pathogenic
2	108930237	A	T	A108930237T	EDAR	NM_022336.4(EDAR):c.57T>A:p.Ser19=	coding	Benign
2	108930963	C	T	C108930963T	EDAR	NM_022336.4(EDAR):c.51+1G>A	noncoding	Pathogenic
2	108930972	C	T	C108930972T	EDAR	NM_022336.4(EDAR):c.43G>A:p.Val15Ile	coding	Benign
2	108931046	G	A	G108931046A	EDAR	NM_022336.4(EDAR):c.-18-14C>T	noncoding	Benign
2	108989311	G	A	G108989311A	EDAR	NM_022336.3(EDAR):c.-370C>T	noncoding	Benign
2	110123912	T	C	T110123912C	NPHP1	NM_000272.4(NPHP1):c.2081A>G:p.Gln694Arg	coding	Benign/Likely_benign
2	110125673	C	T	C110125673T	NPHP1	NM_001128178.3(NPHP1):c.1725G>A:p.Trp575Ter	coding	Pathogenic
2	110129185	C	A	C110129185A	NPHP1	NM_000272.4(NPHP1):c.1884+1G>T	noncoding	Pathogenic
2	110143523	G	A	G110143523A	NPHP1	NM_000272.4(NPHP1):c.1697+19C>T	noncoding	Benign
2	110144532	C	A	C110144532A	NPHP1	NM_001128178.3(NPHP1):c.1390G>T:p.Glu464Ter	coding	Pathogenic
2	110144616	A	G	A110144616G	NPHP1	NM_000272.4(NPHP1):c.1521-47T>C	noncoding	Benign
2	110147907	C	T	C110147907T	NPHP1	NM_000272.4(NPHP1):c.1437+9G>A	noncoding	Benign/Likely_benign
2	110161686	G	A	G110161686A	NPHP1	NM_000272.4(NPHP1):c.1039C>T:p.Arg347Ter	coding	Pathogenic
2	110161744	C	T	C110161744T	NPHP1	NM_000272.4(NPHP1):c.1028-47G>A	noncoding	Benign
2	110163043	A	G	A110163043G	NPHP1	NM_000272.4(NPHP1):c.1027+5T>C	noncoding	Benign
2	110163048	C	T	C110163048T	NPHP1	NM_000272.4(NPHP1):c.1027G>A:p.Gly343Arg	coding	Pathogenic
2	110163071	G	A	G110163071A	NPHP1	NM_000272.4(NPHP1):c.1004C>T:p.Thr335Met	coding	Benign
2	110163152	C	T	C110163152T	NPHP1	NM_000272.4(NPHP1):c.940-17G>A	noncoding	Benign/Likely_benign
2	110164629	C	T	C110164629T	NPHP1	NM_000272.4(NPHP1):c.830G>A:p.Arg277Gln	coding	Benign/Likely_benign
2	110164649	G	A	G110164649A	NPHP1	NM_000272.4(NPHP1):c.810C>T:p.Cys270=	coding	Benign
2	110164666	T	A	T110164666A	NPHP1	NM_000272.4(NPHP1):c.793A>T:p.Asn265Tyr	coding	Benign
2	110165091	G	A	G110165091A	NPHP1	NM_000272.4(NPHP1):c.689C>T:p.Ala230Val	coding	Benign/Likely_benign
2	110165126	C	T	C110165126T	NPHP1	NM_000272.4(NPHP1):c.654G>A:p.Glu218=	coding	Benign
2	110165137	C	A	C110165137A	NPHP1	NM_001128178.3(NPHP1):c.643G>T:p.Glu215Ter	coding	Pathogenic
2	110169890	A	G	A110169890G	NPHP1	NM_000272.4(NPHP1):c.438T>C:p.Asn146=	coding	Benign/Likely_benign
2	110169913	C	A	C110169913A	NPHP1	NM_000272.4(NPHP1):c.415G>T:p.Glu139Ter	coding	Pathogenic
2	110178422	C	T	C110178422T	NPHP1	NM_000272.4(NPHP1):c.329+1G>A	noncoding	Pathogenic
2	110201431	T	G	T110201431G	NPHP1	NM_000272.4(NPHP1):c.133A>C:p.Ile45Leu	coding	Benign/Likely_benign
2	110201449	G	T	G110201449T	NPHP1	NM_000272.4(NPHP1):c.115C>A:p.Pro39Thr	coding	Benign
2	110201484	A	T	A110201484T	NPHP1	NM_000272.4(NPHP1):c.80T>A:p.Leu27Ter	coding	Pathogenic
2	110204955	C	A	C110204955A	NPHP1	NM_000272.4(NPHP1):c.14G>T:p.Arg5Leu	coding	Benign/Likely_benign
2	110639768	C	T	C110639768T	BUB1	NM_004336.5(BUB1):c.3036G>A:p.Glu1012=	coding	Benign
2	110641309	G	A	G110641309A	BUB1	NM_004336.5(BUB1):c.2781C>T:p.Asn927=	coding	Benign
2	110641789	G	A	G110641789A	BUB1	NM_004336.5(BUB1):c.2478C>T:p.Ala826=	coding	Benign
2	110658451	G	T	G110658451T	BUB1	NM_004336.5(BUB1):c.1475C>A:p.Ser492Tyr	coding	Pathogenic
2	110658729	A	G	A110658729G	BUB1	NM_004336.5(BUB1):c.1290T>C:p.His430=	coding	Benign
2	110661776	T	C	T110661776C	BUB1	NM_004336.5(BUB1):c.1023A>G:p.Pro341=	coding	Benign
2	110666253	C	T	C110666253T	BUB1	NM_004336.5(BUB1):c.957+10G>A	noncoding	Benign
2	110667666	A	G	A110667666G	BUB1	NM_004336.5(BUB1):c.660T>C:p.Ser220=	coding	Benign
2	110670559	C	T	C110670559T	BUB1	NM_004336.5(BUB1):c.432G>A:p.Gln144=	coding	Benign
2	110672660	C	T	C110672660T	BUB1	NM_004336.5(BUB1):c.422+1G>A	noncoding	Pathogenic
2	110672804	C	A	C110672804A	BUB1	NM_004336.5(BUB1):c.279G>T:p.Gly93=	coding	Benign
2	110674374	G	C	G110674374C	BUB1	NM_004336.5(BUB1):c.27-9C>G	noncoding	Benign
2	111123784	C	T	C111123784T	BCL2L11	NM_138621.5(BCL2L11):c.39C>T:p.Asp13=	coding	Benign
2	111778687	G	T	G111778687T	ANAPC1	NM_022662.4(ANAPC1):c.5373C>A:p.Ile1791=	coding	Benign
2	111794817	C	T	C111794817T	ANAPC1	NM_022662.4(ANAPC1):c.4373+1G>A	noncoding	Pathogenic
2	111794850	C	T	C111794850T	ANAPC1	NM_022662.4(ANAPC1):c.4341G>A:p.Pro1447=	coding	Benign
2	111825043	G	A	G111825043A	ANAPC1	NM_022662.4(ANAPC1):c.2742-7C>T	noncoding	Benign
2	111825365	G	A	G111825365A	ANAPC1	NM_022662.4(ANAPC1):c.2705-198C>T	noncoding	Pathogenic/Likely_pathogenic
2	111831398	G	A	G111831398A	ANAPC1	NM_022662.4(ANAPC1):c.2513C>T:p.Thr838Met	coding	Benign
2	111834618	G	A	G111834618A	ANAPC1	NM_022662.4(ANAPC1):c.2370C>T:p.Leu790=	coding	Benign
2	111834672	C	T	C111834672T	ANAPC1	NM_022662.4(ANAPC1):c.2316G>A:p.Glu772=	coding	Benign
2	111856852	G	A	G111856852A	ANAPC1	NM_022662.4(ANAPC1):c.1393C>T:p.Gln465Ter	coding	Benign
2	111868027	A	G	A111868027G	ANAPC1	NM_022662.4(ANAPC1):c.681T>C:p.Ser227=	coding	Benign
2	111878858	C	T	C111878858T	ANAPC1	NM_022662.4(ANAPC1):c.327G>A:p.Gln109=	coding	Benign
2	111898795	A	T	A111898795T	MERTK	NM_006343.3(MERTK):c.60A>T:p.Arg20Ser	coding	Benign/Likely_benign
2	111898797	G	A	G111898797A	MERTK	NM_006343.3(MERTK):c.61+1G>A	coding	Pathogenic
2	111898815	G	A	G111898815A	MERTK	NM_006343.3(MERTK):c.61+19G>A	noncoding	Benign
2	111929160	A	G	A111929160G	MERTK	NM_006343.3(MERTK):c.102A>G:p.Leu34=	coding	Benign/Likely_benign
2	111929289	C	T	C111929289T	MERTK	NM_006343.3(MERTK):c.231C>T:p.Asn77=	coding	Benign
2	111929383	A	T	A111929383T	MERTK	NM_006343.3(MERTK):c.325A>T:p.Lys109Ter	coding	Pathogenic/Likely_pathogenic
2	111929411	G	A	G111929411A	MERTK	NM_006343.3(MERTK):c.353G>A:p.Ser118Asn	coding	Benign
2	111945070	C	T	C111945070T	MERTK	NM_006343.3(MERTK):c.583+10C>T	noncoding	Benign
2	111947393	G	T	G111947393T	MERTK	NM_006343.3(MERTK):c.584-1G>T	noncoding	Pathogenic
2	111947566	A	G	A111947566G	MERTK	NM_006343.3(MERTK):c.756A>G:p.Pro252=	coding	Benign/Likely_benign
2	111947580	T	C	T111947580C	MERTK	NM_006343.3(MERTK):c.757+13T>C	noncoding	Benign
2	111965215	G	A	G111965215A	MERTK	NM_006343.3(MERTK):c.782G>A:p.Ser261Asn	coding	Benign
2	111965277	G	A	G111965277A	MERTK	NM_006343.3(MERTK):c.844G>A:p.Ala282Thr	coding	Benign/Likely_benign
2	111975288	G	T	G111975288T	MERTK;LOC112806037	NM_006343.3(MERTK):c.961-1G>T	noncoding	Pathogenic
2	111982984	A	G	A111982984G	MERTK	NM_006343.3(MERTK):c.1287A>G:p.Ala429=	coding	Benign
2	111982994	G	C	G111982994C	MERTK	NM_006343.3(MERTK):c.1296+1G>C	coding	Pathogenic
2	111994307	A	G	A111994307G	MERTK	NM_006343.3(MERTK):c.1353A>G:p.Gln451=	coding	Benign/Likely_benign
2	111994351	G	A	G111994351A	MERTK	NM_006343.3(MERTK):c.1397G>A:p.Arg466Lys	coding	Benign
2	111997365	A	G	A111997365G	MERTK	NM_006343.3(MERTK):c.1493A>G:p.Asn498Ser	coding	Benign
2	111997366	C	T	C111997366T	MERTK	NM_006343.3(MERTK):c.1494C>T:p.Asn498=	coding	Benign
2	111997424	A	G	A111997424G	MERTK	NM_006343.3(MERTK):c.1552A>G:p.Ile518Val	coding	Benign
2	111997478	T	G	T111997478G	MERTK	NM_006343.3(MERTK):c.1604+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	112001199	A	G	A112001199G	MERTK	NM_006343.3(MERTK):c.1605-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	112003902	A	T	A112003902T	MERTK	NM_006343.3(MERTK):c.1787-2A>T	noncoding	Pathogenic
2	112003960	A	T	A112003960T	MERTK	NM_006343.3(MERTK):c.1843A>T:p.Lys615Ter	coding	Pathogenic
2	112008383	T	A	T112008383A	MERTK	NM_006343.3(MERTK):c.1868T>A:p.Leu623Ter	coding	Pathogenic
2	112008396	A	G	A112008396G	MERTK	NM_006343.3(MERTK):c.1881A>G:p.Ser627=	coding	Benign
2	112008466	C	T	C112008466T	MERTK	NM_006343.3(MERTK):c.1951C>T:p.Arg651Ter	coding	Pathogenic
2	112008483	C	G	C112008483G	MERTK	NM_006343.3(MERTK):c.1960+8C>G	noncoding	Benign
2	112009971	C	G	C112009971G	MERTK	NM_006343.3(MERTK):c.1984C>G:p.Gln662Glu	coding	Benign
2	112010068	T	G	T112010068G	MERTK	NM_006343.3(MERTK):c.2079+2T>G	noncoding	Pathogenic
2	112019402	C	A	C112019402A	MERTK	NM_006343.3(MERTK):c.2080-11C>A	noncoding	Benign
2	112019497	C	T	C112019497T	MERTK	NM_006343.3(MERTK):c.2164C>T:p.Arg722Ter	coding	Pathogenic/Likely_pathogenic
2	112019512	C	T	C112019512T	MERTK	NM_006343.3(MERTK):c.2179C>T:p.Arg727Ter	coding	Pathogenic
2	112019523	G	T	G112019523T	MERTK	NM_006343.3(MERTK):c.2189+1G>T	coding	Pathogenic
2	112021451	C	T	C112021451T	MERTK	NM_006343.3(MERTK):c.2219C>T:p.Ala740Val	coding	Pathogenic
2	112021494	C	G	C112021494G	MERTK	NM_006343.3(MERTK):c.2262C>G:p.Tyr754Ter	coding	Pathogenic/Likely_pathogenic
2	112021555	C	T	C112021555T	MERTK	NM_006343.3(MERTK):c.2323C>T:p.Arg775Ter	coding	Pathogenic
2	112022395	G	A	G112022395A	MERTK	NM_006343.3(MERTK):c.2486+1G>A	coding	Pathogenic
2	112028371	G	A	G112028371A	MERTK	NM_006343.3(MERTK):c.2507G>A:p.Cys836Tyr	coding	Pathogenic
2	112028394	C	T	C112028394T	MERTK	NM_006343.3(MERTK):c.2530C>T:p.Arg844Cys	coding	Pathogenic
2	112028472	G	A	G112028472A	MERTK	NM_006343.3(MERTK):c.2608G>A:p.Val870Ile	coding	Benign
2	112028715	G	A	G112028715A	MERTK	NM_006343.3(MERTK):c.2851G>A:p.Ala951Thr	coding	Benign/Likely_benign
2	112028780	G	A	G112028780A	MERTK	NM_006343.3(MERTK):c.2916G>A:p.Ser972=	coding	Benign
2	112236575	C	T	C112236575T	ZC3H8	NM_032494.3(ZC3H8):c.491G>A:p.Gly164Asp	coding	Benign
2	112238491	T	C	T112238491C	ZC3H8	NM_032494.3(ZC3H8):c.194A>G:p.His65Arg	coding	Benign
2	112494134	A	T	A112494134T	TTL	NM_153712.5(TTL):c.237-9A>T	noncoding	Benign
2	112494303	G	A	G112494303A	TTL	NM_153712.5(TTL):c.397G>A:p.Ala133Thr	coding	Benign
2	112494341	C	T	C112494341T	TTL	NM_153712.5(TTL):c.435C>T:p.Asn145=	coding	Benign
2	112501339	C	T	C112501339T	TTL	NM_153712.5(TTL):c.603C>T:p.Ile201=	coding	Benign
2	112568874	T	A	T112568874A	POLR1B	NM_019014.6(POLR1B):c.2046T>A:p.Ser682Arg	coding	Pathogenic
2	112575328	C	A	C112575328A	POLR1B	NM_019014.6(POLR1B):c.3007C>A:p.Arg1003Ser	coding	Pathogenic
2	112575328	C	T	C112575328T	POLR1B	NM_019014.6(POLR1B):c.3007C>T:p.Arg1003Cys	coding	Pathogenic
2	112659206	G	A	G112659206A	SLC20A1	NM_005415.5(SLC20A1):c.1051G>A:p.Ala351Thr	coding	Benign
2	112738875	C	T	C112738875T	CKAP2L	NM_152515.5(CKAP2L):c.2186G>A:p.Arg729His	coding	Benign
2	112738876	G	A	G112738876A	CKAP2L	NM_152515.5(CKAP2L):c.2185C>T:p.Arg729Cys	coding	Benign
2	112738977	C	T	C112738977T	CKAP2L	NM_152515.5(CKAP2L):c.2084G>A:p.Arg695Gln	coding	Benign
2	112739003	A	G	A112739003G	CKAP2L	NM_152515.5(CKAP2L):c.2058T>C:p.Pro686=	coding	Benign
2	112742705	C	T	C112742705T	CKAP2L	NM_152515.5(CKAP2L):c.1822+1G>A	noncoding	Pathogenic
2	112752314	T	C	T112752314C	CKAP2L	NM_152515.5(CKAP2L):c.1555A>G:p.Ser519Gly	coding	Benign
2	112756449	T	C	T112756449C	CKAP2L	NM_152515.5(CKAP2L):c.922A>G:p.Ser308Gly	coding	Benign
2	112756986	A	G	A112756986G	CKAP2L	NM_152515.5(CKAP2L):c.385T>C:p.Ser129Pro	coding	Benign
2	112757149	G	A	G112757149A	CKAP2L	NM_152515.5(CKAP2L):c.222C>T:p.Ile74=	coding	Benign
2	112764597	A	G	A112764597G	CKAP2L	NM_152515.5(CKAP2L):c.2T>C:p.Met1Thr	coding	Pathogenic
2	112779574	C	T	C112779574T	IL1A	NM_000575.5(IL1A):c.412G>A:p.Asp138Asn	coding	Benign
2	112781647	G	A	G112781647A	IL1A	NM_000575.5(IL1A):c.276C>T:p.Ile92=	coding	Benign
2	112833504	G	A	G112833504A	IL1B	NM_000576.3(IL1B):c.171C>T:p.Tyr57=	coding	Benign
2	112833537	G	A	G112833537A	IL1B	NM_000576.3(IL1B):c.138C>T:p.Gly46=	coding	Benign
2	112833585	G	A	G112833585A	IL1B	NM_000576.3(IL1B):c.100-10C>T	noncoding	Benign
2	112913833	A	G	A112913833G	IL37	NM_014439.3(IL37):c.124A>G:p.Thr42Ala	coding	Benign
2	112918606	C	T	C112918606T	IL37	NM_014439.3(IL37):c.454C>T:p.Arg152Trp	coding	Benign
2	113060902	T	C	T113060902C	IL36RN	NM_173170.1(IL36RN):c.80T>C:p.Leu27Pro	coding	Pathogenic
2	113060926	A	G	A113060926G	IL36RN	NM_173170.1(IL36RN):c.104A>G:p.Lys35Arg	coding	Pathogenic
2	113062148	A	G	A113062148G	IL36RN	NM_173170.1(IL36RN):c.140A>G:p.Asn47Ser	coding	Benign
2	113062454	C	T	C113062454T	IL36RN	NM_012275.3(IL36RN):c.245C>T:p.Pro82Leu	coding	Benign/Likely_benign
2	113062577	C	G	C113062577G	IL36RN	NM_173170.1(IL36RN):c.368C>G:p.Thr123Arg	coding	Pathogenic
2	113062578	G	C	G113062578C	IL36RN	NM_173170.1(IL36RN):c.369G>C:p.Thr123=	coding	Benign
2	113062899	T	C	T113062899C	IL36RN	NM_173170.1(IL36RN):c.*222T>C	noncoding	Benign
2	113062953	A	G	A113062953G	IL36RN	NM_173170.1(IL36RN):c.*276A>G	noncoding	Benign
2	113063003	C	A	C113063003A	IL36RN	NM_173170.1(IL36RN):c.*326C>A	noncoding	Benign
2	113063078	A	T	A113063078T	IL36RN	NM_173170.1(IL36RN):c.*401A>T	noncoding	Benign
2	113063095	A	G	A113063095G	IL36RN	NM_173170.1(IL36RN):c.*418A>G	noncoding	Benign
2	113063155	T	C	T113063155C	IL36RN	NM_173170.1(IL36RN):c.*478T>C	noncoding	Benign
2	113063237	C	G	C113063237G	IL36RN	NM_173170.1(IL36RN):c.*560C>G	noncoding	Benign
2	113063505	G	A	G113063505A	IL36RN	NM_173170.1(IL36RN):c.*828G>A	noncoding	Benign
2	113063540	C	T	C113063540T	IL36RN	NM_173170.1(IL36RN):c.*863C>T	noncoding	Benign
2	113063612	G	C	G113063612C	IL36RN	NM_173170.1(IL36RN):c.*935G>C	noncoding	Benign
2	113063623	T	C	T113063623C	IL36RN	NM_173170.1(IL36RN):c.*946T>C	noncoding	Benign
2	113063759	C	A	C113063759A	IL36RN	NM_173170.1(IL36RN):c.*1082C>A	noncoding	Benign
2	113064076	T	C	T113064076C	IL36RN	NM_173170.1(IL36RN):c.*1399T>C	noncoding	Benign
2	113064310	C	T	C113064310T	IL36RN	NM_173170.1(IL36RN):c.*1633C>T	noncoding	Benign
2	113064311	A	G	A113064311G	IL36RN	NM_173170.1(IL36RN):c.*1634A>G	noncoding	Benign
2	113064558	G	T	G113064558T	IL36RN	NM_173170.1(IL36RN):c.*1881G>T	noncoding	Benign
2	113064591	C	T	C113064591T	IL36RN	NM_173170.1(IL36RN):c.*1914C>T	noncoding	Benign
2	113064664	G	A	G113064664A	IL36RN	NM_173170.1(IL36RN):c.*1987G>A	noncoding	Benign
2	113117932	G	A	G113117932A	IL1RN	NM_173841.2(IL1RN):c.-87G>A	noncoding	Benign
2	113117988	A	G	A113117988G	IL1RN	NM_173841.2(IL1RN):c.-31A>G	noncoding	Benign
2	113118007	G	C	G113118007C	IL1RN	NM_173841.3(IL1RN):c.-12G>C	noncoding	Benign
2	113127693	G	A	G113127693A	IL1RN	NM_173842.3(IL1RN):c.69G>A:p.Thr23=	coding	Benign/Likely_benign
2	113127745	G	A	G113127745A	IL1RN	NM_173841.2(IL1RN):c.125+5G>A	noncoding	Benign
2	113129619	C	T	C113129619T	IL1RN	NM_173842.3(IL1RN):c.160C>T:p.Gln54Ter	coding	Pathogenic
2	113129630	T	C	T113129630C	IL1RN	NM_173842.3(IL1RN):c.171T>C:p.Ala57=	coding	Benign
2	113129906	C	T	C113129906T	IL1RN	NM_173841.2(IL1RN):c.214+242C>T	noncoding	Benign
2	113131068	G	T	G113131068T	IL1RN	NM_173842.3(IL1RN):c.229G>T:p.Glu77Ter	coding	Pathogenic
2	113131076	T	C	T113131076C	IL1RN	NM_173842.3(IL1RN):c.237T>C:p.His79=	coding	Benign
2	113132707	G	A	G113132707A	IL1RN	NM_173842.3(IL1RN):c.370G>A:p.Ala124Thr	coding	Benign
2	113132727	T	C	T113132727C	IL1RN	NM_173842.3(IL1RN):c.390T>C:p.Ser130=	coding	Benign
2	113132796	C	T	C113132796T	IL1RN	NM_173842.3(IL1RN):c.459C>T:p.Asp153=	coding	Benign/Likely_benign
2	113132802	C	T	C113132802T	IL1RN	NM_173842.3(IL1RN):c.465C>T:p.Pro155=	coding	Benign
2	113133009	C	G	C113133009G	IL1RN	NM_173841.2(IL1RN):c.*138C>G	noncoding	Benign
2	113133033	C	T	C113133033T	IL1RN	NM_173841.2(IL1RN):c.*162C>T	noncoding	Benign
2	113133182	G	A	G113133182A	IL1RN	NM_173841.2(IL1RN):c.*311G>A	noncoding	Benign
2	113133408	G	A	G113133408A	IL1RN	NM_173842.3(IL1RN):c.*537G>A	noncoding	Benign
2	113133829	C	T	C113133829T	IL1RN	NM_173841.2(IL1RN):c.*958C>T	noncoding	Benign
2	113133835	G	A	G113133835A	IL1RN	NM_173841.2(IL1RN):c.*964G>A	noncoding	Benign
2	113216055	G	A	G113216055A	PAX8	NM_003466.4(PAX8):c.*2478C>T	noncoding	Benign
2	113216224	T	C	T113216224C	PAX8	NM_003466.4(PAX8):c.*2309A>G	noncoding	Benign
2	113216387	T	C	T113216387C	PAX8	NM_003466.4(PAX8):c.*2146A>G	noncoding	Benign
2	113216619	G	C	G113216619C	PAX8	NM_003466.4(PAX8):c.*1914C>G	noncoding	Benign
2	113217489	T	G	T113217489G	PAX8	NM_003466.4(PAX8):c.*1044A>C	noncoding	Benign
2	113217527	T	G	T113217527G	PAX8	NM_003466.4(PAX8):c.*1006A>C	noncoding	Benign
2	113217533	A	G	A113217533G	PAX8	NM_003466.4(PAX8):c.*1000T>C	noncoding	Benign
2	113218569	T	C	T113218569C	PAX8	NM_003466.4(PAX8):c.1317A>G:p.Ala439=	coding	Benign/Likely_benign
2	113220126	G	A	G113220126A	PAX8	NM_003466.4(PAX8):c.1242C>T:p.Ser414=	coding	Benign/Likely_benign
2	113227201	G	A	G113227201A	PAX8	NM_003466.4(PAX8):c.1143C>T:p.Ser381=	coding	Benign
2	113235521	G	C	G113235521C	PAX8	NM_003466.4(PAX8):c.960C>G:p.Thr320=	coding	Benign
2	113241623	C	T	C113241623T	PAX8	NM_003466.4(PAX8):c.705G>A:p.Pro235=	coding	Benign
2	113242764	T	C	T113242764C	PAX8	NM_003466.4(PAX8):c.404A>G:p.Lys135Arg	coding	Benign/Likely_benign
2	113244444	A	G	A113244444G	PAX8	NM_003466.4(PAX8):c.372T>C:p.Ser124=	coding	Benign
2	113244494	G	A	G113244494A	PAX8	NM_003466.4(PAX8):c.322C>T:p.Arg108Ter	coding	Pathogenic
2	113246760	A	C	A113246760C	PAX8	NM_003466.4(PAX8):c.185T>G:p.Leu62Arg	coding	Pathogenic
2	113246775	C	T	C113246775T	PAX8	NM_003466.4(PAX8):c.170G>A:p.Cys57Tyr	coding	Pathogenic
2	113246785	T	C	T113246785C	PAX8	NM_003466.4(PAX8):c.160A>G:p.Ser54Gly	coding	Pathogenic
2	113246802	G	A	G113246802A	PAX8	NM_003466.4(PAX8):c.143C>T:p.Ser48Phe	coding	Pathogenic
2	113246826	T	G	T113246826G	PAX8	NM_003466.4(PAX8):c.119A>C:p.Gln40Pro	coding	Pathogenic
2	113246853	C	T	C113246853T	PAX8	NM_003466.4(PAX8):c.92G>A:p.Arg31His	coding	Pathogenic
2	113246854	G	A	G113246854A	PAX8;PAX8-AS1	NM_003466.4(PAX8):c.91C>T:p.Arg31Cys	coding	Pathogenic
2	115739743	A	C	A115739743C	DPP10	NM_020868.6(DPP10):c.702A>C:p.Glu234Asp	coding	Benign
2	115768323	C	T	C115768323T	DPP10	NM_020868.6(DPP10):c.1140C>T:p.Asp380=	coding	Benign
2	115782403	A	G	A115782403G	DPP10	NM_020868.6(DPP10):c.1531+4A>G	noncoding	Benign
2	115814815	C	T	C115814815T	DPP10	NM_020868.6(DPP10):c.1723C>T:p.Leu575=	coding	Benign
2	115814893	G	A	G115814893A	DPP10	NM_020868.6(DPP10):c.1801G>A:p.Gly601Ser	coding	Benign
2	115814918	T	G	T115814918G	DPP10	NM_020868.6(DPP10):c.1826T>G:p.Leu609Arg	coding	Benign
2	117819702	G	A	G117819702A	DDX18	NM_006773.4(DDX18):c.424G>A:p.Glu142Lys	coding	Benign
2	117821194	G	A	G117821194A	DDX18	NM_006773.4(DDX18):c.548G>A:p.Cys183Tyr	coding	Benign
2	117821760	C	G	C117821760G	DDX18	NM_006773.4(DDX18):c.751+10C>G	noncoding	Benign
2	117824613	G	A	G117824613A	DDX18	NM_006773.4(DDX18):c.1111G>A:p.Val371Ile	coding	Benign
2	117825035	T	C	T117825035C	DDX18	NM_006773.4(DDX18):c.1302T>C:p.Ser434=	coding	Benign
2	117826298	C	G	C117826298G	DDX18	NM_006773.4(DDX18):c.1551C>G:p.Ala517=	coding	Benign
2	117829456	C	T	C117829456T	DDX18	NM_006773.4(DDX18):c.1860C>T:p.Phe620=	coding	Benign
2	118103297	T	C	T118103297C	INSIG2	NM_016133.4(INSIG2):c.345T>C:p.Phe115=	coding	Benign
2	118107180	A	G	A118107180G	INSIG2	NM_016133.4(INSIG2):c.627A>G:p.Gln209=	coding	Benign
2	118982178	T	C	T118982178C	MARCO	NM_006770.3(MARCO):c.924T>C:p.Val308=	coding	Benign
2	119158174	G	T	G119158174T	C1QL2	NM_182528.4(C1QL2):c.96C>A:p.Ile32=	coding	Benign
2	119245748	G	A	G119245748A	STEAP3	NM_182915.3(STEAP3):c.282G>A:p.Pro94=	coding	Benign
2	119245796	C	A	C119245796A	STEAP3	NM_182915.3(STEAP3):c.330C>A:p.Cys110Ter	coding	Pathogenic
2	119247691	G	A	G119247691A	STEAP3	NM_182915.3(STEAP3):c.535G>A:p.Gly179Ser	coding	Benign
2	119247801	C	G	C119247801G	STEAP3	NM_182915.3(STEAP3):c.645C>G:p.Pro215=	coding	Benign
2	119248037	G	A	G119248037A	STEAP3	NM_182915.3(STEAP3):c.881G>A:p.Arg294His	coding	Benign
2	119248055	G	A	G119248055A	STEAP3	NM_182915.3(STEAP3):c.899G>A:p.Arg300His	coding	Benign
2	119248167	C	T	C119248167T	STEAP3	NM_182915.3(STEAP3):c.1011C>T:p.Arg337=	coding	Benign
2	119263059	C	T	C119263059T	STEAP3	NM_182915.3(STEAP3):c.1218C>T:p.Ser406=	coding	Benign
2	119263110	C	T	C119263110T	STEAP3	NM_182915.3(STEAP3):c.1269C>T:p.Tyr423=	coding	Benign
2	119263179	G	A	G119263179A	STEAP3	NM_182915.3(STEAP3):c.1338G>A:p.Leu446=	coding	Benign
2	119372310	G	A	G119372310A	DBI	NM_001079862.3(DBI):c.256G>A:p.Gly86Arg	coding	Benign
2	119437097	G	A	G119437097A	TMEM37	NM_183240.3(TMEM37):c.230G>A:p.Gly77Asp	coding	Benign
2	119440195	G	A	G119440195A	SCTR	NM_002980.3(SCTR):c.1245C>T:p.Pro415=	coding	Benign
2	119453277	G	A	G119453277A	SCTR	NM_002980.3(SCTR):c.851+10C>T	noncoding	Benign
2	119461998	C	T	C119461998T	SCTR	NM_002980.3(SCTR):c.639G>A:p.Ala213=	coding	Benign
2	119464135	G	A	G119464135A	SCTR	NM_002980.3(SCTR):c.624C>T:p.Cys208=	coding	Benign
2	119464191	G	A	G119464191A	SCTR	NM_002980.3(SCTR):c.568C>T:p.Leu190=	coding	Benign
2	119473530	C	T	C119473530T	SCTR	NM_002980.3(SCTR):c.328G>A:p.Asp110Asn	coding	Benign
2	120164909	A	T	A120164909T	EPB41L5	NM_020909.4(EPB41L5):c.1961A>T:p.Gln654Leu	coding	Benign
2	120797314	G	A	G120797314A	GLI2	NM_001374353.1(GLI2):c.-7G>A	noncoding	Benign/Likely_benign
2	120797320	G	C	G120797320C	GLI2	NM_001374353.1(GLI2):c.-1G>C	noncoding	Benign
2	120797449	A	C	A120797449C	GLI2	NM_001374353.1(GLI2):c.129A>C:p.Ala43=	coding	Benign
2	120927087	C	G	C120927087G	GLI2	NM_001374353.1(GLI2):c.149-274C>G	noncoding	Benign
2	120951279	C	T	C120951279T	GLI2	NM_001374353.1(GLI2):c.291C>T:p.Asp97=	coding	Benign
2	120951309	G	A	G120951309A	GLI2	NM_001374353.1(GLI2):c.321G>A:p.Pro107=	coding	Benign
2	120951515	G	A	G120951515A	GLI2	NM_001374353.1(GLI2):c.457+70G>A	noncoding	Benign
2	120955333	C	T	C120955333T	GLI2	NM_001374353.1(GLI2):c.546C>T:p.Leu182=	coding	Benign
2	120955382	G	A	G120955382A	GLI2	NM_001374353.1(GLI2):c.595G>A:p.Gly199Ser	coding	Benign/Likely_benign
2	120955446	C	G	C120955446G	GLI2	NM_001374353.1(GLI2):c.643+16C>G	noncoding	Benign
2	120955454	G	A	G120955454A	GLI2	NM_001374353.1(GLI2):c.643+24G>A	noncoding	Benign
2	120955465	T	C	T120955465C	GLI2	NM_001374353.1(GLI2):c.643+35T>C	noncoding	Benign
2	120968790	C	T	C120968790T	GLI2	NM_001374353.1(GLI2):c.720C>T:p.Asp240=	coding	Benign
2	120968871	G	A	G120968871A	GLI2	NM_001374353.1(GLI2):c.801G>A:p.Ser267=	coding	Benign
2	120968873	C	T	C120968873T	GLI2	NM_001374353.1(GLI2):c.803C>T:p.Ala268Val	coding	Benign/Likely_benign
2	120968916	G	C	G120968916C	GLI2	NM_001374353.1(GLI2):c.845+1G>C	coding	Pathogenic
2	120970510	C	G	C120970510G	GLI2	NM_001374353.1(GLI2):c.963C>G:p.Pro321=	coding	Benign
2	120971914	C	T	C120971914T	GLI2	NM_001374353.1(GLI2):c.1060-27C>T	noncoding	Benign
2	120972019	G	T	G120972019T	GLI2	NM_001374353.1(GLI2):c.1138G>T:p.Glu380Ter	coding	Pathogenic
2	120972110	T	C	T120972110C	GLI2	NM_001374353.1(GLI2):c.1182+47T>C	noncoding	Benign
2	120975035	G	A	G120975035A	GLI2	NM_001374353.1(GLI2):c.1243G>A:p.Val415Met	coding	Benign
2	120975052	C	T	C120975052T	GLI2	NM_001374353.1(GLI2):c.1260C>T:p.Thr420=	coding	Benign
2	120975064	G	A	G120975064A	GLI2	NM_001374353.1(GLI2):c.1272G>A:p.Trp424Ter	coding	Pathogenic
2	120978486	G	A	G120978486A	GLI2	NM_001374353.1(GLI2):c.1370G>A:p.Trp457Ter	coding	Pathogenic
2	120978499	G	A	G120978499A	GLI2	NM_001374353.1(GLI2):c.1383G>A:p.Thr461=	coding	Benign
2	120978500	C	G	C120978500G	GLI2	NM_001374353.1(GLI2):c.1384C>G:p.Arg462Gly	coding	Pathogenic
2	120978559	G	A	G120978559A	GLI2	NM_001374353.1(GLI2):c.1443G>A:p.Thr481=	coding	Benign
2	120982781	C	T	C120982781T	GLI2	NM_001374353.1(GLI2):c.1533C>T:p.Thr511=	coding	Benign
2	120982803	G	T	G120982803T	GLI2	NM_001374353.1(GLI2):c.1555G>T:p.Glu519Ter	coding	Pathogenic
2	120982929	C	T	C120982929T	GLI2	NM_001374353.1(GLI2):c.1632+49C>T	noncoding	Benign
2	120984454	C	T	C120984454T	GLI2	NM_001374353.1(GLI2):c.1633-17C>T	noncoding	Benign
2	120984500	C	T	C120984500T	GLI2	NM_001374353.1(GLI2):c.1662C>T:p.Cys554=	coding	Benign
2	120984548	G	A	G120984548A	GLI2	NM_001374353.1(GLI2):c.1710G>A:p.Thr570=	coding	Benign/Likely_benign
2	120984589	A	G	A120984589G	GLI2	NM_001374353.1(GLI2):c.1751A>G:p.Asn584Ser	coding	Benign
2	120984646	C	T	C120984646T	GLI2	NM_001374353.1(GLI2):c.1808C>T:p.Thr603Met	coding	Benign/Likely_benign
2	120984656	C	A	C120984656A	GLI2	NM_001374353.1(GLI2):c.1818C>A:p.Gly606=	coding	Benign/Likely_benign
2	120984731	C	T	C120984731T	GLI2	NM_001374353.1(GLI2):c.1893C>T:p.Thr631=	coding	Benign
2	120986307	G	A	G120986307A	GLI2	NM_001374353.1(GLI2):c.1935G>A:p.Ser645=	coding	Benign/Likely_benign
2	120986409	A	G	A120986409G	GLI2	NM_001374353.1(GLI2):c.2037A>G:p.Ala679=	coding	Benign/Likely_benign
2	120986508	C	A	C120986508A	GLI2	NM_001374353.1(GLI2):c.2136C>A:p.Phe712Leu	coding	Benign
2	120986571	T	G	T120986571G	GLI2	NM_001374353.1(GLI2):c.2199T>G:p.Thr733=	coding	Benign/Likely_benign
2	120986583	G	T	G120986583T	GLI2	NM_001374353.1(GLI2):c.2211G>T:p.Arg737=	coding	Benign/Likely_benign
2	120986649	A	G	A120986649G	GLI2	NM_001374353.1(GLI2):c.2242+35A>G	noncoding	Benign
2	120988204	G	A	G120988204A	GLI2	NM_001374353.1(GLI2):c.2243-4G>A	noncoding	Benign
2	120988622	C	G	C120988622G	GLI2	NM_001374353.1(GLI2):c.2657C>G:p.Thr886Ser	coding	Benign
2	120988854	C	T	C120988854T	GLI2	NM_001374353.1(GLI2):c.2889C>T:p.Ser963=	coding	Benign/Likely_benign
2	120988932	C	T	C120988932T	GLI2	NM_001374353.1(GLI2):c.2967C>T:p.Gly989=	coding	Benign/Likely_benign
2	120988962	C	T	C120988962T	GLI2	NM_001374353.1(GLI2):c.2997C>T:p.Asp999=	coding	Benign
2	120989263	G	T	G120989263T	GLI2	NM_001374353.1(GLI2):c.3298G>T:p.Val1100Leu	coding	Benign/Likely_benign
2	120989352	G	A	G120989352A	GLI2	NM_001374353.1(GLI2):c.3387G>A:p.Trp1129Ter	coding	Pathogenic
2	120989374	G	A	G120989374A	GLI2	NM_001374353.1(GLI2):c.3409G>A:p.Val1137Ile	coding	Benign
2	120989380	G	T	G120989380T	GLI2	NM_001374353.1(GLI2):c.3415G>T:p.Ala1139Ser	coding	Benign
2	120989442	G	T	G120989442T	GLI2	NM_001374353.1(GLI2):c.3477G>T:p.Gln1159His	coding	Benign
2	120989504	G	A	G120989504A	GLI2	NM_001374353.1(GLI2):c.3539G>A:p.Gly1180Asp	coding	Benign/Likely_benign
2	120989581	C	T	C120989581T	GLI2	NM_001374353.1(GLI2):c.3616C>T:p.Gln1206Ter	coding	Pathogenic
2	120989796	G	A	G120989796A	GLI2	NM_001374353.1(GLI2):c.3831G>A:p.Thr1277=	coding	Benign
2	120989830	G	A	G120989830A	GLI2	NM_001374353.1(GLI2):c.3865G>A:p.Asp1289Asn	coding	Benign
2	120989853	A	G	A120989853G	GLI2	NM_001374353.1(GLI2):c.3888A>G:p.Pro1296=	coding	Benign
2	120989857	C	T	C120989857T	GLI2	NM_001374353.1(GLI2):c.3892C>T:p.Pro1298Ser	coding	Benign/Likely_benign
2	120989944	C	T	C120989944T	GLI2	NM_001374353.1(GLI2):c.3979C>T:p.Leu1327=	coding	Benign/Likely_benign
2	120989968	A	G	A120989968G	GLI2	NM_001374353.1(GLI2):c.4003A>G:p.Met1335Val	coding	Benign/Likely_benign
2	120990121	A	G	A120990121G	GLI2	NM_001374353.1(GLI2):c.4156A>G:p.Met1386Val	coding	Benign
2	120990135	G	A	G120990135A	GLI2	NM_001374353.1(GLI2):c.4170G>A:p.Pro1390=	coding	Benign/Likely_benign
2	120990246	G	A	G120990246A	GLI2	NM_001374353.1(GLI2):c.4281G>A:p.Met1427Ile	coding	Benign/Likely_benign
2	120990247	C	T	C120990247T	GLI2	NM_001374353.1(GLI2):c.4282C>T:p.Leu1428Phe	coding	Benign/Likely_benign
2	120990411	T	C	T120990411C	GLI2	NM_001374353.1(GLI2):c.4446T>C:p.Thr1482=	coding	Benign/Likely_benign
2	120990472	G	A	G120990472A	GLI2	NM_001374353.1(GLI2):c.4507G>A:p.Asp1503Asn	coding	Benign/Likely_benign
2	120990474	T	G	T120990474G	GLI2	NM_001374353.1(GLI2):c.4509T>G:p.Asp1503Glu	coding	Benign
2	120990495	T	C	T120990495C	GLI2	NM_001374353.1(GLI2):c.4530T>C:p.Gly1510=	coding	Benign/Likely_benign
2	120990536	C	A	C120990536A	GLI2	NM_001374353.1(GLI2):c.4571C>A:p.Ser1524Tyr	coding	Benign
2	120990542	G	A	G120990542A	GLI2	NM_001374353.1(GLI2):c.4577G>A:p.Arg1526His	coding	Benign/Likely_benign
2	120990577	T	C	T120990577C	GLI2	NM_001374353.1(GLI2):c.4612T>C:p.Ser1538Pro	coding	Benign/Likely_benign
2	120990717	C	T	C120990717T	GLI2	NM_001374353.1(GLI2):c.*42C>T	noncoding	Benign
2	120991094	C	T	C120991094T	GLI2	NM_001374353.1(GLI2):c.*419C>T	noncoding	Benign
2	120991491	G	C	G120991491C	GLI2	NM_001374353.1(GLI2):c.*816G>C	noncoding	Benign
2	120992050	A	C	A120992050C	GLI2	NM_001374353.1(GLI2):c.*1375A>C	noncoding	Benign
2	120992460	A	G	A120992460G	GLI2	NM_001374353.1(GLI2):c.*1785A>G	noncoding	Benign
2	120992501	T	G	T120992501G	GLI2	NM_001374353.1(GLI2):c.*1826T>G	noncoding	Benign
2	120992570	G	A	G120992570A	GLI2	NM_001374353.1(GLI2):c.*1895G>A	noncoding	Benign
2	121235262	A	C	A121235262C	TFCP2L1	NM_014553.3(TFCP2L1):c.1053T>G:p.Gly351=	coding	Benign
2	121242351	C	T	C121242351T	TFCP2L1	NM_014553.3(TFCP2L1):c.768+8G>A	noncoding	Benign
2	121249631	G	A	G121249631A	TFCP2L1	NM_014553.3(TFCP2L1):c.231C>T:p.Ile77=	coding	Benign
2	121281207	G	A	G121281207A	TFCP2L1	NM_014553.3(TFCP2L1):c.127C>T:p.Arg43Cys	coding	Benign
2	121367637	G	A	G121367637A	CLASP1	NM_015282.3(CLASP1):c.3837C>T:p.Thr1279=	coding	Benign
2	121425215	C	T	C121425215T	CLASP1	NM_015282.3(CLASP1):c.2136G>A:p.Pro712=	coding	Benign
2	121530887	C	T	C121530887T	RNU4ATAC	NM_015282.3(CLASP1):c.196-562G>A	coding	Pathogenic
2	121530892	C	T	C121530892T	RNU4ATAC	NR_023343.1(RNU4ATAC):n.13C>T	coding	Pathogenic
2	121530895	G	A	G121530895A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.16G>A	coding	Pathogenic
2	121530916	G	A	G121530916A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.37G>A	coding	Pathogenic
2	121530919	C	T	C121530919T	RNU4ATAC	NM_015282.3(CLASP1):c.196-594G>A	coding	Pathogenic
2	121530925	G	A	G121530925A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.46G>A	coding	Pathogenic
2	121530929	G	A	G121530929A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.50G>A	coding	Pathogenic
2	121530929	G	C	G121530929C	RNU4ATAC	NM_015282.3(CLASP1):c.196-604C>G	coding	Pathogenic
2	121530930	G	A	G121530930A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.51G>A	coding	Pathogenic
2	121530932	C	G	C121530932G	RNU4ATAC	NM_015282.3(CLASP1):c.196-607G>C	coding	Pathogenic
2	121530934	G	A	G121530934A	RNU4ATAC	NR_023343.1(RNU4ATAC):n.55G>A	coding	Pathogenic
2	121530945	G	C	G121530945C	RNU4ATAC	NM_015282.3(CLASP1):c.196-620C>G	coding	Pathogenic
2	121530990	G	A	G121530990A	RNU4ATAC	NM_015282.3(CLASP1):c.196-665C>T	coding	Pathogenic
2	121530997	T	C	T121530997C	RNU4ATAC	NM_015282.3(CLASP1):c.196-672A>G	coding	Pathogenic
2	121531003	G	A	G121531003A	RNU4ATAC	NM_015282.3(CLASP1):c.196-678C>T	coding	Pathogenic
2	124025730	A	C	A124025730C	CNTNAP5	NM_130773.4(CNTNAP5):c.80A>C:p.Asn27Thr	coding	Benign
2	124524296	C	T	C124524296T	CNTNAP5	NM_130773.4(CNTNAP5):c.1325-7C>T	noncoding	Benign
2	124609850	C	T	C124609850T	CNTNAP5	NM_130773.4(CNTNAP5):c.1803C>T:p.Ala601=	coding	Benign
2	124747304	T	C	T124747304C	CNTNAP5	NM_130773.4(CNTNAP5):c.2150T>C:p.Val717Ala	coding	Benign
2	124747395	A	C	A124747395C	CNTNAP5	NM_130773.4(CNTNAP5):c.2231+10A>C	noncoding	Benign
2	124790146	C	G	C124790146G	CNTNAP5	NM_130773.4(CNTNAP5):c.2989+5C>G	noncoding	Benign
2	124798232	T	C	T124798232C	CNTNAP5	NM_130773.4(CNTNAP5):c.3126T>C:p.Leu1042=	coding	Benign
2	124903004	G	A	G124903004A	CNTNAP5	NM_130773.4(CNTNAP5):c.3556G>A:p.Ala1186Thr	coding	Benign
2	126690264	C	T	C126690264T	GYPC	NM_002101.5(GYPC):c.59C>T:p.Pro20Leu	coding	Benign
2	126693955	C	G	C126693955G	GYPC	NM_002101.5(GYPC):c.190+8C>G	noncoding	Benign
2	126695967	T	C	T126695967C	GYPC	NM_002101.5(GYPC):c.212T>C:p.Ile71Thr	coding	Benign
2	127048444	G	T	G127048444T	BIN1	NM_139343.3(BIN1):c.*82C>A	noncoding	Benign
2	127048595	C	T	C127048595T	BIN1	NM_139343.3(BIN1):c.1713G>A:p.Trp571Ter	coding	Pathogenic
2	127050278	C	T	C127050278T	BIN1	NM_139343.3(BIN1):c.1674+143G>A	noncoding	Benign
2	127050365	C	T	C127050365T	BIN1	NM_139343.3(BIN1):c.1674+56G>A	noncoding	Benign
2	127050484	G	A	G127050484A	BIN1	NM_139343.3(BIN1):c.1611C>T:p.Asp537=	coding	Benign/Likely_benign
2	127050500	G	A	G127050500A	BIN1	NM_139343.3(BIN1):c.1595C>T:p.Thr532Met	coding	Benign/Likely_benign
2	127050540	C	G	C127050540G	BIN1	NM_139343.3(BIN1):c.1573-18G>C	noncoding	Benign
2	127050551	C	G	C127050551G	BIN1	NM_139343.3(BIN1):c.1573-29G>C	noncoding	Benign
2	127050585	G	A	G127050585A	BIN1	NM_139343.3(BIN1):c.1573-63C>T	noncoding	Benign
2	127050594	G	A	G127050594A	BIN1	NM_139343.3(BIN1):c.1573-72C>T	noncoding	Benign
2	127050650	A	T	A127050650T	BIN1	NM_139343.3(BIN1):c.1573-128T>A	noncoding	Benign
2	127050956	G	A	G127050956A	BIN1	NM_139343.3(BIN1):c.1462-44C>T	noncoding	Benign
2	127051333	G	A	G127051333A	BIN1	NM_139343.3(BIN1):c.1372-90C>T	noncoding	Benign
2	127051932	T	G	T127051932G	BIN1	NM_139343.3(BIN1):c.1371+323A>C	noncoding	Benign
2	127051933	A	C	A127051933C	BIN1	NM_139343.3(BIN1):c.1371+322T>G	noncoding	Benign
2	127052254	C	A	C127052254A	BIN1	NM_139343.3(BIN1):c.1371+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	127052264	C	A	C127052264A	BIN1	NM_139343.3(BIN1):c.1362G>T:p.Gly454=	coding	Benign/Likely_benign
2	127052334	G	A	G127052334A	BIN1	NM_139343.3(BIN1):c.1292C>T:p.Pro431Leu	coding	Benign/Likely_benign
2	127053121	C	T	C127053121T	BIN1	NM_139343.3(BIN1):c.1263+301G>A	noncoding	Benign
2	127053466	G	A	G127053466A	BIN1	NM_139343.3(BIN1):c.1240-21C>T	noncoding	Benign
2	127054198	C	T	C127054198T	BIN1	NM_139343.3(BIN1):c.1132-186G>A	noncoding	Benign
2	127054234	C	T	C127054234T	BIN1	NM_139343.3(BIN1):c.1132-222G>A	noncoding	Benign
2	127057149	A	G	A127057149G	BIN1	NM_139343.3(BIN1):c.1131+324T>C	noncoding	Benign
2	127057200	G	A	G127057200A	BIN1	NM_139343.3(BIN1):c.1131+273C>T	noncoding	Benign
2	127057205	G	A	G127057205A	BIN1	NM_139343.3(BIN1):c.1131+268C>T	noncoding	Benign
2	127057259	T	C	T127057259C	BIN1	NM_139343.3(BIN1):c.1131+214A>G	noncoding	Benign
2	127057455	G	A	G127057455A	BIN1	NM_139343.3(BIN1):c.1131+18C>T	noncoding	Benign
2	127057617	G	A	G127057617A	BIN1	NM_139343.3(BIN1):c.1003-16C>T	noncoding	Benign/Likely_benign
2	127057662	G	A	G127057662A	BIN1	NM_139343.3(BIN1):c.1003-61C>T	noncoding	Benign
2	127058848	A	G	A127058848G	BIN1	NM_139343.3(BIN1):c.1002+163T>C	noncoding	Benign
2	127058899	A	G	A127058899G	BIN1	NM_139343.3(BIN1):c.1002+112T>C	noncoding	Benign
2	127058960	G	A	G127058960A	BIN1	NM_139343.3(BIN1):c.1002+51C>T	noncoding	Benign
2	127059056	G	A	G127059056A	BIN1	NM_139343.3(BIN1):c.957C>T:p.Ala319=	coding	Benign/Likely_benign
2	127059119	C	T	C127059119T	BIN1	NM_139343.3(BIN1):c.894G>A:p.Ser298=	coding	Benign/Likely_benign
2	127059160	G	A	G127059160A	BIN1	NM_139343.3(BIN1):c.858-5C>T	noncoding	Benign/Likely_benign
2	127059167	G	T	G127059167T	BIN1	NM_139343.3(BIN1):c.858-12C>A	noncoding	Benign
2	127060445	C	T	C127060445T	BIN1	NM_139343.3(BIN1):c.858-1290G>A	noncoding	Benign
2	127060830	G	A	G127060830A	BIN1	NM_139343.3(BIN1):c.857+1285C>T	noncoding	Benign
2	127062201	C	T	C127062201T	BIN1	NM_139343.3(BIN1):c.775-4G>A	noncoding	Benign
2	127063509	C	T	C127063509T	BIN1	NM_139343.3(BIN1):c.774+62G>A	noncoding	Benign
2	127063631	G	A	G127063631A	BIN1	NM_139343.3(BIN1):c.714C>T:p.Tyr238=	coding	Benign
2	127063876	C	T	C127063876T	BIN1	NM_139343.3(BIN1):c.698+57G>A	noncoding	Benign
2	127063877	G	A	G127063877A	BIN1	NM_139343.3(BIN1):c.698+56C>T	noncoding	Benign
2	127063923	T	C	T127063923C	BIN1	NM_139343.3(BIN1):c.698+10A>G	noncoding	Benign
2	127064263	G	C	G127064263C	BIN1	NM_139343.3(BIN1):c.613-245C>G	noncoding	Benign
2	127068392	G	A	G127068392A	BIN1	NM_139343.3(BIN1):c.520-137C>T	noncoding	Benign
2	127068683	A	G	A127068683G	BIN1	NM_139343.3(BIN1):c.519+241T>C	noncoding	Benign
2	127068957	A	G	A127068957G	BIN1	NM_139343.3(BIN1):c.486T>C:p.Thr162=	coding	Benign/Likely_benign
2	127068992	C	T	C127068992T	BIN1	NM_139343.3(BIN1):c.451G>A:p.Asp151Asn	coding	Pathogenic
2	127069056	A	G	A127069056G	BIN1	NM_139343.3(BIN1):c.412-25T>C	noncoding	Benign
2	127069257	G	A	G127069257A	BIN1	NM_139343.3(BIN1):c.412-226C>T	noncoding	Benign
2	127076387	C	T	C127076387T	BIN1	NM_139343.3(BIN1):c.165+239G>A	noncoding	Benign
2	127076560	T	C	T127076560C	BIN1	NM_139343.3(BIN1):c.165+66A>G	noncoding	Benign
2	127076686	C	A	C127076686A	BIN1	NM_139343.3(BIN1):c.105G>T:p.Lys35Asn	coding	Pathogenic
2	127076793	C	T	C127076793T	BIN1	NM_139343.3(BIN1):c.85-87G>A	noncoding	Benign
2	127076808	T	C	T127076808C	BIN1	NM_139343.3(BIN1):c.85-102A>G	noncoding	Benign
2	127076883	T	C	T127076883C	BIN1	NM_139343.3(BIN1):c.85-177A>G	noncoding	Benign
2	127076952	C	T	C127076952T	BIN1	NM_139343.3(BIN1):c.85-246G>A	noncoding	Benign
2	127077004	G	C	G127077004C	BIN1	NM_139343.3(BIN1):c.85-298C>G	noncoding	Benign
2	127106624	C	A	C127106624A	BIN1	NM_139343.3(BIN1):c.84+236G>T	noncoding	Benign
2	127106970	G	A	G127106970A	BIN1	NM_139343.3(BIN1):c.-27C>T	noncoding	Benign
2	127107345	C	G	C127107345G	BIN1	NC_000002.12:g.127107345C>G	noncoding	Benign
2	127107346	G	C	G127107346C	BIN1	NC_000002.12:g.127107346G>C	noncoding	Benign
2	127107524	G	A	G127107524A	BIN1	NC_000002.12:g.127107524G>A	noncoding	Benign
2	127107528	C	T	C127107528T	BIN1	NC_000002.12:g.127107528C>T	noncoding	Benign
2	127187314	G	A	G127187314A	CYP27C1	NM_001367502.1(CYP27C1):c.1571C>T:p.Thr524Met	coding	Benign
2	127257337	C	T	C127257337T	ERCC3	NM_000122.1(ERCC3):c.*259G>A	noncoding	Benign
2	127257419	T	C	T127257419C	ERCC3	NM_000122.1(ERCC3):c.*177A>G	noncoding	Benign
2	127257567	G	A	G127257567A	ERCC3	NM_000122.1(ERCC3):c.*29C>T	noncoding	Benign
2	127259310	A	G	A127259310G	ERCC3	NM_000122.2(ERCC3):c.2203T>C:p.Ser735Pro	coding	Benign
2	127271485	T	A	T127271485A	ERCC3	NM_000122.2(ERCC3):c.1828-32A>T	noncoding	Benign
2	127271486	G	A	G127271486A	ERCC3	NM_000122.2(ERCC3):c.1828-33C>T	noncoding	Benign
2	127271488	G	A	G127271488A	ERCC3	NM_000122.2(ERCC3):c.1828-35C>T	noncoding	Benign
2	127271489	G	A	G127271489A	ERCC3	NM_000122.2(ERCC3):c.1828-36C>T	noncoding	Benign
2	127272949	G	A	G127272949A	ERCC3	NM_000122.2(ERCC3):c.1743C>T:p.Tyr581=	coding	Benign
2	127279270	G	A	G127279270A	ERCC3	NM_000122.1(ERCC3):c.1633C>T:p.Gln545Ter	coding	Pathogenic
2	127280489	C	T	C127280489T	ERCC3	NM_000122.1(ERCC3):c.1485G>A:p.Glu495=	coding	Benign
2	127286710	G	A	G127286710A	ERCC3	NM_000122.2(ERCC3):c.1335C>T:p.Thr445=	coding	Benign
2	127286772	G	A	G127286772A	ERCC3	NM_000122.1(ERCC3):c.1273C>T:p.Arg425Ter	coding	Pathogenic
2	127286926	C	T	C127286926T	ERCC3	NM_000122.1(ERCC3):c.1119G>A:p.Gln373=	coding	Benign
2	127288657	T	C	T127288657C	ERCC3	NM_000122.1(ERCC3):c.1027+3A>G	noncoding	Benign
2	127288679	C	T	C127288679T	ERCC3	NM_000122.2(ERCC3):c.1008G>A:p.Gly336=	coding	Benign
2	127289731	C	T	C127289731T	ERCC3	NM_000122.1(ERCC3):c.615G>A:p.Glu205=	coding	Benign
2	127289763	G	A	G127289763A	ERCC3	NM_000122.1(ERCC3):c.583C>T:p.Arg195Ter	coding	Pathogenic
2	127292609	C	T	C127292609T	ERCC3	NM_000122.1(ERCC3):c.471+1G>A	noncoding	Pathogenic
2	127292621	G	A	G127292621A	ERCC3	NM_000122.2(ERCC3):c.460C>T:p.Gln154Ter	coding	Pathogenic
2	127292726	T	G	T127292726G	ERCC3	NM_000122.1(ERCC3):c.355A>C:p.Thr119Pro	coding	Pathogenic
2	127292756	G	A	G127292756A	ERCC3	NM_000122.1(ERCC3):c.325C>T:p.Arg109Ter	coding	Pathogenic/Likely_pathogenic
2	127292785	A	G	A127292785G	ERCC3	NM_000122.1(ERCC3):c.296T>C:p.Phe99Ser	coding	Pathogenic
2	127294150	G	A	G127294150A	ERCC3	NM_000122.1(ERCC3):c.-69C>T	noncoding	Benign
2	127317689	A	G	A127317689G	MAP3K2	NM_006609.5(MAP3K2):c.1266T>C:p.Tyr422=	coding	Benign
2	127322212	G	T	G127322212T	MAP3K2	NM_006609.5(MAP3K2):c.879C>A:p.Thr293=	coding	Benign
2	127418464	A	T	A127418464T	PROC	NM_000312.3(PROC):c.-50A>T	noncoding	Benign
2	127419983	G	A	G127419983A	PROC	NM_000312.4(PROC):c.41G>A:p.Trp14Ter	coding	Pathogenic
2	127420008	T	C	T127420008C	PROC	NM_000312.3(PROC):c.66T>C:p.Pro22=	coding	Benign/Likely_benign
2	127421336	C	T	C127421336T	PROC	NM_000312.4(PROC):c.124C>T:p.Arg42Cys	coding	Pathogenic
2	127421381	C	T	C127421381T	PROC	NM_000312.3(PROC):c.169C>T:p.Arg57Trp	coding	Pathogenic/Likely_pathogenic
2	127421397	A	C	A127421397C	PROC	NM_000312.3(PROC):c.185A>C:p.Glu62Ala	coding	Pathogenic
2	127421438	G	A	G127421438A	PROC	NM_000312.3(PROC):c.226G>A:p.Val76Met	coding	Pathogenic
2	127423111	G	T	G127423111T	PROC	NM_000312.3(PROC):c.340G>T:p.Gly114Cys	coding	Pathogenic
2	127423170	C	T	C127423170T	PROC	NM_000312.3(PROC):c.399C>T:p.Arg133=	coding	Benign/Likely_benign
2	127423172	G	A	G127423172A	PROC	NM_000312.3(PROC):c.400+1G>A	coding	Pathogenic
2	127423184	G	A	G127423184A	PROC	NM_000312.3(PROC):c.400+13G>A	noncoding	Benign
2	127423296	G	T	G127423296T	PROC	NM_000312.3(PROC):c.423G>T:p.Ser141=	coding	Benign
2	127423319	A	C	A127423319C	PROC	NM_000312.3(PROC):c.446A>C:p.His149Pro	coding	Pathogenic
2	127426079	C	T	C127426079T	PROC	NM_000312.3(PROC):c.536-6C>T	noncoding	Benign
2	127426144	C	T	C127426144T	PROC	NM_000312.4(PROC):c.595C>T:p.Arg199Ter	coding	Pathogenic
2	127426179	G	A	G127426179A	PROC	NM_000312.3(PROC):c.630G>A:p.Pro210=	coding	Benign/Likely_benign
2	127426180	C	T	C127426180T	PROC	NM_000312.3(PROC):c.631C>T:p.Arg211Trp	coding	Pathogenic/Likely_pathogenic
2	127426207	C	T	C127426207T	PROC	NM_000312.3(PROC):c.658C>T:p.Arg220Trp	coding	Pathogenic
2	127426208	G	A	G127426208A	PROC	NM_000312.3(PROC):c.659G>A:p.Arg220Gln	coding	Pathogenic/Likely_pathogenic
2	127426227	G	C	G127426227C	PROC	NM_000312.3(PROC):c.678G>C:p.Gln226His	coding	Pathogenic
2	127426236	C	T	C127426236T	PROC	NM_000312.3(PROC):c.678+9C>T	noncoding	Pathogenic
2	127427166	G	A	G127427166A	PROC	NM_000312.4(PROC):c.740G>A:p.Trp247Ter	coding	Pathogenic
2	127427194	T	C	T127427194C	PROC	NM_000312.3(PROC):c.768T>C:p.Asp256=	coding	Benign
2	127428426	C	T	C127428426T	PROC	NM_000312.3(PROC):c.866C>T:p.Pro289Leu	coding	Pathogenic
2	127428449	G	C	G127428449C	PROC	NM_000312.3(PROC):c.889G>C:p.Asp297His	coding	Pathogenic
2	127428451	C	T	C127428451T	PROC	NM_000312.3(PROC):c.891C>T:p.Asp297=	coding	Benign/Likely_benign
2	127428462	C	T	C127428462T	PROC	NM_000312.3(PROC):c.902C>T:p.Ala301Val	coding	Pathogenic
2	127428484	C	T	C127428484T	PROC	NM_000312.4(PROC):c.924C>T:p.Pro308=	coding	Benign/Likely_benign
2	127428485	G	A	G127428485A	PROC	NM_000312.3(PROC):c.925G>A:p.Ala309Thr	coding	Pathogenic
2	127428487	C	T	C127428487T	PROC	NM_000312.3(PROC):c.927C>T:p.Ala309=	coding	Benign/Likely_benign
2	127428560	G	A	G127428560A	PROC	NM_000312.3(PROC):c.1000G>A:p.Gly334Ser	coding	Pathogenic
2	127428575	G	A	G127428575A	PROC	NM_000312.3(PROC):c.1015G>A:p.Val339Met	coding	Pathogenic
2	127428587	G	A	G127428587A	PROC	NM_000312.3(PROC):c.1027G>A:p.Gly343Ser	coding	Pathogenic
2	127428602	C	T	C127428602T	PROC	NM_000312.3(PROC):c.1042C>T:p.Arg348Ter	coding	Pathogenic
2	127428667	G	A	G127428667A	PROC	NM_000312.3(PROC):c.1107G>A:p.Pro369=	coding	Benign/Likely_benign
2	127428721	T	C	T127428721C	PROC	NM_000312.3(PROC):c.1161T>C:p.Cys387=	coding	Benign/Likely_benign
2	127428776	A	G	A127428776G	PROC	NM_000312.3(PROC):c.1216A>G:p.Met406Val	coding	Pathogenic/Likely_pathogenic
2	127428892	G	C	G127428892C	PROC	NM_000312.3(PROC):c.1332G>C:p.Trp444Cys	coding	Pathogenic
2	127428895	C	G	C127428895G	PROC	NM_000312.3(PROC):c.1335C>G:p.Ile445Met	coding	Pathogenic
2	127503518	T	C	T127503518C	IWS1	NM_017969.3(IWS1):c.1278A>G:p.Ser426=	coding	Benign
2	127505036	C	T	C127505036T	IWS1	NM_017969.3(IWS1):c.867G>A:p.Ser289=	coding	Benign
2	127566753	G	A	G127566753A	MYO7B	NM_001080527.1(MYO7B):c.396G>A:p.Pro132=	coding	Benign
2	127624198	A	G	A127624198G	MYO7B	NM_001080527.1(MYO7B):c.3847A>G:p.Ile1283Val	coding	Benign
2	127629686	G	A	G127629686A	MYO7B	NM_001080527.1(MYO7B):c.4588G>A:p.Val1530Ile	coding	Benign
2	127634598	C	T	C127634598T	MYO7B	NM_001080527.1(MYO7B):c.5550C>T:p.Val1850=	coding	Benign
2	127639339	A	G	A127639339G	LIMS2	NM_017980.4(LIMS2):c.1040T>C:p.Leu347Pro	coding	Pathogenic
2	127640153	G	C	G127640153C	LIMS2	NM_001136037.3(LIMS2):c.869-8C>G	noncoding	Benign
2	127640307	G	A	G127640307A	LIMS2	NM_017980.4(LIMS2):c.837C>T:p.Asp279=	coding	Benign
2	127642088	G	A	G127642088A	LIMS2	NM_001136037.3(LIMS2):c.687C>T:p.Gly229=	coding	Benign
2	127642115	G	A	G127642115A	LIMS2	NM_017980.4(LIMS2):c.666C>T:p.Cys222=	coding	Benign
2	127642991	G	T	G127642991T	LIMS2	NM_001136037.3(LIMS2):c.507C>A:p.Ile169=	coding	Benign
2	127643033	C	T	C127643033T	LIMS2	NM_017980.4(LIMS2):c.471G>A:p.Lys157=	coding	Benign
2	127643047	G	A	G127643047A	LIMS2	NM_001136037.3(LIMS2):c.451C>T:p.Arg151Cys	coding	Benign/Likely_benign
2	127643076	C	T	C127643076T	LIMS2	NM_001136037.3(LIMS2):c.426-4G>A	noncoding	Benign
2	127650815	C	T	C127650815T	GPR17	NM_001161415.1(GPR17):c.164C>T:p.Thr55Met	coding	Benign
2	127651269	G	A	G127651269A	GPR17	NM_001161415.1(GPR17):c.618G>A:p.Thr206=	coding	Benign
2	127654492	C	T	C127654492T	LIMS2	NM_001136037.3(LIMS2):c.357G>A:p.Pro119=	coding	Benign
2	127654879	G	A	G127654879A	LIMS2	NM_001136037.3(LIMS2):c.255C>T:p.Tyr85=	coding	Benign
2	127657535	G	A	G127657535A	LIMS2	NM_001136037.3(LIMS2):c.105C>T:p.Ala35=	coding	Benign
2	127664301	C	T	C127664301T	LIMS2	NM_017980.4(LIMS2):c.83+5G>A	noncoding	Benign
2	127873991	C	G	C127873991G	AMMECR1L	NM_001199140.2(AMMECR1L):c.244G>C:p.Ala82Pro	coding	Benign
2	128107929	C	T	C128107929T	UGGT1	NM_020120.4(UGGT1):c.278-9C>T	noncoding	Benign
2	128113210	A	G	A128113210G	UGGT1	NM_020120.4(UGGT1):c.648A>G:p.Ser216=	coding	Benign
2	128129068	G	A	G128129068A	UGGT1	NM_020120.4(UGGT1):c.1266G>A:p.Glu422=	coding	Benign
2	128145957	C	T	C128145957T	UGGT1	NM_020120.4(UGGT1):c.2006C>T:p.Ala669Val	coding	Benign
2	128170312	A	T	A128170312T	UGGT1	NM_020120.4(UGGT1):c.2946A>T:p.Glu982Asp	coding	Benign
2	128171201	C	T	C128171201T	UGGT1	NM_020120.4(UGGT1):c.3025-4C>T	noncoding	Benign
2	128173894	T	C	T128173894C	UGGT1	NM_020120.4(UGGT1):c.3408T>C:p.Thr1136=	coding	Benign
2	128173902	A	G	A128173902G	UGGT1	NM_020120.4(UGGT1):c.3416A>G:p.Asn1139Ser	coding	Benign
2	128176837	C	T	C128176837T	UGGT1	NM_020120.4(UGGT1):c.3563C>T:p.Pro1188Leu	coding	Benign
2	128177917	A	G	A128177917G	UGGT1	NM_020120.4(UGGT1):c.3710A>G:p.Lys1237Arg	coding	Benign
2	128187475	G	A	G128187475A	UGGT1	NM_020120.4(UGGT1):c.4503G>A:p.Pro1501=	coding	Benign
2	128187547	C	T	C128187547T	UGGT1	NM_020120.4(UGGT1):c.4575C>T:p.Ile1525=	coding	Benign
2	128187578	C	T	C128187578T	UGGT1	NM_020120.4(UGGT1):c.4606C>T:p.Leu1536=	coding	Benign
2	128187595	A	G	A128187595G	UGGT1	NM_020120.4(UGGT1):c.4623A>G:p.Thr1541=	coding	Benign
2	128189709	T	G	T128189709G	UGGT1	NM_020120.4(UGGT1):c.4643-8T>G	noncoding	Benign
2	128268277	C	T	C128268277T	HS6ST1	NM_004807.3(HS6ST1):c.1121G>A:p.Ser374Asn	coding	Benign
2	128268653	G	T	G128268653T	HS6ST1	NM_004807.3(HS6ST1):c.745C>A:p.Arg249Ser	coding	Benign/Likely_benign
2	130152756	G	A	G130152756A	SMPD4	NM_017951.4(SMPD4):c.2400C>T:p.Ala800=	coding	Benign
2	130155095	C	T	C130155095T	SMPD4	NM_017951.4(SMPD4):c.1570+1G>A	noncoding	Pathogenic
2	130155268	C	T	C130155268T	SMPD4	NM_017951.4(SMPD4):c.1407-9G>A	noncoding	Pathogenic
2	130173278	C	A	C130173278A	SMPD4	NM_017951.4(SMPD4):c.462+1G>T	noncoding	Pathogenic
2	130191918	G	A	G130191918A	TUBA3E	NM_207312.3(TUBA3E):c.1266C>T:p.Arg422=	coding	Benign
2	130194181	G	T	G130194181T	TUBA3E	NM_207312.3(TUBA3E):c.661C>A:p.Arg221Ser	coding	Benign
2	130195145	G	A	G130195145A	TUBA3E	NM_207312.3(TUBA3E):c.309C>T:p.Tyr103=	coding	Benign
2	130195152	C	T	C130195152T	TUBA3E	NM_207312.3(TUBA3E):c.302G>A:p.Ser101Asn	coding	Benign
2	130339144	C	T	C130339144T	CCDC115	NM_032357.4(CCDC115):c.519G>A:p.Lys173=	coding	Benign
2	130339219	G	A	G130339219A	CCDC115	NM_032357.4(CCDC115):c.444C>T:p.Ala148=	coding	Benign
2	130342034	A	G	A130342034G	CCDC115	NM_032357.4(CCDC115):c.92T>C:p.Leu31Ser	coding	Pathogenic
2	130342095	C	A	C130342095A	CCDC115	NM_032357.4(CCDC115):c.31G>T:p.Asp11Tyr	coding	Pathogenic
2	130598664	G	T	G130598664T	CFC1	NM_032545.3(CFC1):c.225C>A:p.Pro75=	coding	Benign
2	130598749	C	T	C130598749T	CFC1	NM_032545.3(CFC1):c.140G>A:p.Arg47Gln	coding	Benign
2	130946613	G	C	G130946613C	ARHGEF4	NM_001367493.1(ARHGEF4):c.3963G>C:p.Trp1321Cys	coding	Benign
2	131038975	G	A	G131038975A	ARHGEF4	NM_001367493.1(ARHGEF4):c.4248G>A:p.Glu1416=	coding	Benign
2	131041952	C	T	C131041952T	ARHGEF4	NM_001367493.1(ARHGEF4):c.5025+8C>T	noncoding	Benign
2	132417483	G	A	G132417483A	GPR39	NM_001508.3(GPR39):c.441G>A:p.Ser147=	coding	Benign
2	132417677	A	G	A132417677G	GPR39	NM_001508.3(GPR39):c.635A>G:p.Asn212Ser	coding	Benign
2	132645123	C	A	C132645123A	GPR39	NM_001508.3(GPR39):c.879C>A:p.Ala293=	coding	Benign
2	132728835	A	T	A132728835T	NCKAP5	NM_207363.3(NCKAP5):c.5561T>A:p.Val1854Asp	coding	Benign
2	132731761	G	A	G132731761A	NCKAP5	NM_207363.3(NCKAP5):c.5419C>T:p.Arg1807Cys	coding	Benign
2	132781130	G	A	G132781130A	NCKAP5	NM_207363.3(NCKAP5):c.4971C>T:p.Gly1657=	coding	Benign
2	132781973	G	A	G132781973A	NCKAP5	NM_207363.3(NCKAP5):c.4838C>T:p.Thr1613Met	coding	Benign
2	132783061	G	C	G132783061C	NCKAP5	NM_207363.3(NCKAP5):c.3750C>G:p.Ser1250=	coding	Benign
2	132783141	G	A	G132783141A	NCKAP5	NM_207363.3(NCKAP5):c.3670C>T:p.Pro1224Ser	coding	Benign
2	132783181	T	C	T132783181C	NCKAP5	NM_207363.3(NCKAP5):c.3630A>G:p.Leu1210=	coding	Benign
2	132783849	T	A	T132783849A	NCKAP5	NM_207363.3(NCKAP5):c.2962A>T:p.Thr988Ser	coding	Benign
2	132784078	C	T	C132784078T	NCKAP5	NM_207363.3(NCKAP5):c.2733G>A:p.Thr911=	coding	Benign
2	132785122	C	T	C132785122T	NCKAP5	NM_207363.3(NCKAP5):c.1689G>A:p.Arg563=	coding	Benign
2	132785418	G	A	G132785418A	NCKAP5	NM_207363.3(NCKAP5):c.1393C>T:p.His465Tyr	coding	Benign
2	132790047	G	A	G132790047A	NCKAP5	NM_207363.3(NCKAP5):c.1068C>T:p.His356=	coding	Benign
2	132868942	A	T	A132868942T	NCKAP5	NM_207363.3(NCKAP5):c.681T>A:p.Thr227=	coding	Benign
2	132963781	C	T	C132963781T	NCKAP5	NM_207363.3(NCKAP5):c.518G>A:p.Ser173Asn	coding	Benign
2	134838715	A	T	A134838715T	ACMSD	NM_138326.3(ACMSD):c.33A>T:p.Pro11=	coding	Benign
2	135052463	A	C	A135052463C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.52A>C:p.Thr18Pro	coding	Pathogenic
2	135052482	A	T	A135052482T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.71A>T:p.Glu24Val	coding	Pathogenic
2	135052779	C	T	C135052779T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.74+294C>T	noncoding	Benign
2	135093380	A	G	A135093380G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.284-235A>G	noncoding	Benign
2	135093688	A	G	A135093688G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.357A>G:p.Val119=	coding	Benign
2	135113257	G	T	G135113257T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.469G>T:p.Gly157Ter	coding	Pathogenic
2	135113271	G	A	G135113271A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.482+1G>A	coding	Pathogenic
2	135115076	C	A	C135115076A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.483-140C>A	noncoding	Benign
2	135115293	G	C	G135115293C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.560G>C:p.Arg187Pro	coding	Pathogenic
2	135115372	A	G	A135115372G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.639A>G:p.Lys213=	coding	Benign
2	135120817	A	G	A135120817G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.649-2A>G	noncoding	Pathogenic
2	135120839	G	T	G135120839T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.669G>T:p.Leu223Phe	coding	Benign
2	135120919	G	A	G135120919A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.748+1G>A	coding	Pathogenic
2	135126250	G	A	G135126250A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.899+1G>A	coding	Pathogenic/Likely_pathogenic
2	135126596	A	G	A135126596G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.913A>G:p.Ile305Val	coding	Benign
2	135130027	C	T	C135130027T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1006C>T:p.Arg336Cys	coding	Benign/Likely_benign
2	135130030	C	T	C135130030T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1009C>T:p.Arg337Ter	coding	Pathogenic/Likely_pathogenic
2	135130060	C	T	C135130060T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1039C>T:p.Arg347Ter	coding	Pathogenic
2	135130062	A	G	A135130062G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1041A>G:p.Arg347=	coding	Benign
2	135130323	T	C	T135130323C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1067-229T>C	noncoding	Benign
2	135132893	A	G	A135132893G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1237-2A>G	noncoding	Pathogenic
2	135132968	C	G	C135132968G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1310C>G:p.Ser437Ter	coding	Pathogenic
2	135132983	A	G	A135132983G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1325A>G:p.Tyr442Cys	coding	Benign/Likely_benign
2	135133711	T	C	T135133711C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1327-150T>C	noncoding	Benign
2	135133944	C	A	C135133944A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1410C>A:p.Tyr470Ter	coding	Pathogenic
2	135134005	C	T	C135134005T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1471C>T:p.Arg491Ter	coding	Pathogenic
2	135135563	G	A	G135135563A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1555-1G>A	noncoding	Pathogenic
2	135135743	G	A	G135135743A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1734G>A:p.Trp578Ter	coding	Pathogenic
2	135135802	A	G	A135135802G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1793A>G:p.Asn598Ser	coding	Benign
2	135135917	C	G	C135135917G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1908C>G:p.Tyr636Ter	coding	Pathogenic
2	135150437	G	A	G135150437A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1992G>A:p.Ser664=	coding	Benign
2	135150456	C	T	C135150456T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2011C>T:p.Arg671Ter	coding	Pathogenic
2	135153690	G	A	G135153690A	RAB3GAP1	NM_001172435.2(RAB3GAP1):c.2103G>A:p.Trp701Ter	coding	Pathogenic
2	135153852	T	C	T135153852C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2265T>C:p.Phe755=	coding	Benign
2	135162538	C	T	C135162538T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2290-17C>T	noncoding	Benign
2	135162755	C	T	C135162755T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2394C>T:p.Leu798=	coding	Benign
2	135162824	C	T	C135162824T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2463C>T:p.Phe821=	coding	Benign
2	135162986	G	T	G135162986T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2491G>T:p.Glu831Ter	coding	Pathogenic
2	135164629	T	G	T135164629G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2642T>G:p.Leu881Ter	coding	Pathogenic
2	135168635	C	G	C135168635G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2800C>G:p.Pro934Ala	coding	Benign
2	135168739	T	C	T135168739C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2904T>C:p.Phe968=	coding	Benign/Likely_benign
2	135168916	C	G	C135168916G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*135C>G	noncoding	Benign
2	135168952	G	A	G135168952A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*171G>A	noncoding	Benign
2	135169185	C	T	C135169185T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*404C>T	noncoding	Benign
2	135169773	G	A	G135169773A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*992G>A	noncoding	Benign
2	135169776	T	C	T135169776C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*995T>C	noncoding	Benign
2	135169858	T	C	T135169858C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*1077T>C	noncoding	Benign
2	135170159	T	C	T135170159C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*1378T>C	noncoding	Benign
2	135170607	G	C	G135170607C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*1826G>C	noncoding	Benign
2	135207432	A	G	A135207432G	ZRANB3	NM_032143.4(ZRANB3):c.3009+2T>C	noncoding	Benign
2	135230654	C	T	C135230654T	ZRANB3	NM_032143.4(ZRANB3):c.1813G>A:p.Val605Met	coding	Benign
2	135230712	G	A	G135230712A	ZRANB3	NM_032143.4(ZRANB3):c.1755C>T:p.Asp585=	coding	Benign
2	135788274	C	G	C135788274G	LCT	NM_002299.4(LCT):c.*50G>C	noncoding	Benign
2	135788340	G	T	G135788340T	LCT	NM_002299.4(LCT):c.5768C>A:p.Pro1923Gln	coding	Benign/Likely_benign
2	135788540	A	G	A135788540G	LCT	NM_002299.4(LCT):c.5568T>C:p.Ala1856=	coding	Benign
2	135798089	T	C	T135798089C	LCT	NM_002299.4(LCT):c.4916A>G:p.Asn1639Ser	coding	Benign
2	135800696	C	T	C135800696T	LCT	NM_002299.4(LCT):c.4777G>A:p.Val1593Met	coding	Benign/Likely_benign
2	135803987	G	A	G135803987A	LCT	NM_002299.4(LCT):c.4606C>T:p.Leu1536=	coding	Benign
2	135804902	G	A	G135804902A	LCT	NM_002299.4(LCT):c.4329C>T:p.Gly1443=	coding	Benign
2	135807131	A	T	A135807131T	LCT	NM_002299.4(LCT):c.4170T>A:p.Tyr1390Ter	coding	Pathogenic
2	135808750	C	T	C135808750T	LCT	NM_002299.4(LCT):c.3597G>A:p.Ala1199=	coding	Benign/Likely_benign
2	135809633	T	C	T135809633C	LCT	NM_002299.4(LCT):c.2714A>G:p.Asp905Gly	coding	Benign/Likely_benign
2	135809641	C	T	C135809641T	LCT	NM_002299.4(LCT):c.2706G>A:p.Thr902=	coding	Benign
2	135817629	G	T	G135817629T	LCT	NM_002299.4(LCT):c.1419C>A:p.Gly473=	coding	Benign
2	135817730	C	T	C135817730T	LCT	NM_002299.4(LCT):c.1318G>A:p.Val440Ile	coding	Benign
2	135817842	G	A	G135817842A	LCT	NM_002299.4(LCT):c.1206C>T:p.Ala402=	coding	Benign
2	135817964	T	C	T135817964C	LCT	NM_002299.4(LCT):c.1084A>G:p.Ile362Val	coding	Benign
2	135829593	C	G	C135829593G	LCT	NM_002299.4(LCT):c.804G>C:p.Gln268His	coding	Pathogenic
2	135833176	C	T	C135833176T	LCT	NM_002299.4(LCT):c.655G>A:p.Val219Ile	coding	Benign
2	135836588	G	A	G135836588A	LCT	NM_002299.4(LCT):c.582C>T:p.Thr194=	coding	Benign
2	135836716	C	T	C135836716T	LCT	NM_002299.4(LCT):c.454G>A:p.Ala152Thr	coding	Benign/Likely_benign
2	135836852	G	A	G135836852A	LCT	NM_002299.4(LCT):c.318C>T:p.Asp106=	coding	Benign/Likely_benign
2	135836869	T	C	T135836869C	LCT	NM_002299.4(LCT):c.301A>G:p.Ser101Gly	coding	Benign
2	135840873	A	G	A135840873G	MCM6	NM_005915.6(MCM6):c.2428T>C:p.Tyr810His	coding	Benign
2	135844626	G	A	G135844626A	MCM6	NM_005915.6(MCM6):c.2268C>T:p.Ile756=	coding	Benign
2	135870364	G	A	G135870364A	MCM6	NM_005915.6(MCM6):c.255-3C>T	noncoding	Benign
2	135876357	G	A	G135876357A	MCM6	NM_005915.6(MCM6):c.9C>T:p.Leu3=	coding	Benign
2	135907342	G	C	G135907342C	DARS1	NM_001349.4(DARS1):c.1480C>G:p.Arg494Gly	coding	Pathogenic
2	135907405	A	G	A135907405G	DARS1	NM_001349.4(DARS1):c.1417T>C:p.Leu473=	coding	Benign
2	135911121	G	A	G135911121A	DARS1	NM_001349.4(DARS1):c.1414+18C>T	noncoding	Benign
2	135911174	C	T	C135911174T	DARS1	NM_001349.4(DARS1):c.1379G>A:p.Arg460His	coding	Pathogenic
2	135911368	T	C	T135911368C	DARS1	NM_001349.4(DARS1):c.1342+14A>G	noncoding	Benign
2	135916233	C	A	C135916233A	DARS1	NM_001349.4(DARS1):c.1099G>T:p.Asp367Tyr	coding	Pathogenic
2	135920573	T	A	T135920573A	DARS1	NM_001349.4(DARS1):c.839A>T:p.His280Leu	coding	Pathogenic
2	135920591	G	A	G135920591A	DARS1	NM_001349.4(DARS1):c.821C>T:p.Ala274Val	coding	Pathogenic
2	135922793	T	C	T135922793C	DARS1	NM_001349.4(DARS1):c.802A>G:p.Ile268Val	coding	Benign
2	135922829	T	G	T135922829G	DARS1	NM_001349.4(DARS1):c.766A>C:p.Met256Leu	coding	Pathogenic
2	135932855	A	G	A135932855G	DARS1	NM_001349.4(DARS1):c.505-13T>C	noncoding	Benign
2	135985510	G	C	G135985510C	DARS1	NM_001349.4(DARS1):c.-42C>G	noncoding	Benign
2	136114901	C	A	C136114901A	CXCR4	NM_003467.2(CXCR4):c.1027G>T:p.Glu343Ter	coding	Pathogenic
2	136114915	G	C	G136114915C	CXCR4	NM_003467.2(CXCR4):c.1013C>G:p.Ser338Ter	coding	Pathogenic
2	136114928	G	A	G136114928A	CXCR4	NM_001008540.2(CXCR4):c.1012C>T:p.Arg338Ter	coding	Pathogenic
2	136115145	G	A	G136115145A	CXCR4	NM_003467.2(CXCR4):c.783C>T:p.Ile261=	coding	Benign
2	136115417	C	T	C136115417T	CXCR4	NM_003467.3(CXCR4):c.511G>A:p.Asp171Asn	coding	Benign
2	136115514	G	A	G136115514A	CXCR4	NM_003467.2(CXCR4):c.414C>T:p.Ile138=	coding	Benign
2	136115757	T	C	T136115757C	CXCR4	NM_003467.3(CXCR4):c.171A>G:p.Gly57=	coding	Benign
2	136115771	T	G	T136115771G	CXCR4	NM_003467.3(CXCR4):c.157A>C:p.Ile53Leu	coding	Benign
2	137970206	G	A	G137970206A	HNMT	NM_006895.3(HNMT):c.179G>A:p.Gly60Asp	coding	Pathogenic
2	137970207	C	T	C137970207T	HNMT	NM_006895.3(HNMT):c.180C>T:p.Gly60=	coding	Benign
2	138002119	G	A	G138002119A	HNMT	NM_006895.3(HNMT):c.354G>A:p.Glu118=	coding	Benign
2	138013874	T	C	T138013874C	HNMT	NM_006895.3(HNMT):c.623T>C:p.Leu208Pro	coding	Pathogenic
2	138671153	G	A	G138671153A	NXPH2	NM_007226.3(NXPH2):c.564C>T:p.Arg188=	coding	Benign
2	140234776	C	A	C140234776A	LRP1B	NM_018557.3(LRP1B):c.13659+10G>T	noncoding	Benign
2	140322048	G	A	G140322048A	LRP1B	NM_018557.3(LRP1B):c.12555C>T:p.Cys4185=	coding	Benign
2	140324044	G	A	G140324044A	LRP1B	NM_018557.3(LRP1B):c.12363C>T:p.Ile4121=	coding	Benign
2	140356355	G	T	G140356355T	LRP1B	NM_018557.3(LRP1B):c.11517C>A:p.Asn3839Lys	coding	Benign
2	140356361	C	T	C140356361T	LRP1B	NM_018557.3(LRP1B):c.11511G>A:p.Met3837Ile	coding	Benign
2	140358851	C	T	C140358851T	LRP1B	NM_018557.3(LRP1B):c.11227G>A:p.Gly3743Ser	coding	Benign
2	140503098	G	C	G140503098C	LRP1B	NM_018557.3(LRP1B):c.8527C>G:p.Arg2843Gly	coding	Benign
2	140506803	C	T	C140506803T	LRP1B	NM_018557.3(LRP1B):c.8514G>A:p.Pro2838=	coding	Benign
2	140516935	G	A	G140516935A	LRP1B	NM_018557.3(LRP1B):c.8103C>T:p.Cys2701=	coding	Benign
2	140516995	T	C	T140516995C	LRP1B	NM_018557.3(LRP1B):c.8043A>G:p.Lys2681=	coding	Benign
2	140525856	A	G	A140525856G	LRP1B	NM_018557.3(LRP1B):c.8014T>C:p.Leu2672=	coding	Benign
2	140525923	G	A	G140525923A	LRP1B	NM_018557.3(LRP1B):c.7947C>T:p.Thr2649=	coding	Benign
2	140700613	C	A	C140700613A	LRP1B	NM_018557.3(LRP1B):c.6436G>T:p.Val2146Phe	coding	Benign
2	140701791	C	T	C140701791T	LRP1B	NM_018557.3(LRP1B):c.6357G>A:p.Thr2119=	coding	Benign
2	140702263	G	A	G140702263A	LRP1B	NM_018557.3(LRP1B):c.6180C>T:p.Arg2060=	coding	Benign
2	140769245	G	C	G140769245C	LRP1B	NM_018557.3(LRP1B):c.5726C>G:p.Thr1909Ser	coding	Benign
2	140868104	G	A	G140868104A	LRP1B	NM_018557.3(LRP1B):c.4329C>T:p.Asp1443=	coding	Benign
2	140950243	G	C	G140950243C	LRP1B	NM_018557.3(LRP1B):c.3128C>G:p.Thr1043Ser	coding	Benign
2	140989664	G	A	G140989664A	LRP1B	NM_018557.3(LRP1B):c.2645-7C>T	noncoding	Benign
2	140994029	G	A	G140994029A	LRP1B	NM_018557.3(LRP1B):c.2610C>T:p.Cys870=	coding	Benign
2	140994107	T	C	T140994107C	LRP1B	NM_018557.3(LRP1B):c.2532A>G:p.Ile844Met	coding	Benign
2	141015881	T	C	T141015881C	LRP1B	NM_018557.3(LRP1B):c.2005A>G:p.Ile669Val	coding	Benign
2	141058926	A	G	A141058926G	LRP1B	NM_018557.3(LRP1B):c.1365T>C:p.Asn455=	coding	Benign
2	141188525	G	A	G141188525A	LRP1B	NM_018557.3(LRP1B):c.909C>T:p.Val303=	coding	Benign
2	141247282	C	T	C141247282T	LRP1B	NM_018557.3(LRP1B):c.536G>A:p.Ser179Asn	coding	Benign
2	142885441	C	T	C142885441T	KYNU	NM_003937.3(KYNU):c.74C>T:p.Thr25Met	coding	Benign
2	142885490	C	T	C142885490T	KYNU	NM_003937.3(KYNU):c.123C>T:p.His41=	coding	Benign
2	142918608	G	T	G142918608T	KYNU	NM_003937.3(KYNU):c.170-1G>T	noncoding	Pathogenic
2	142927694	G	C	G142927694C	KYNU	NM_003937.3(KYNU):c.326G>C:p.Trp109Ser	coding	Pathogenic
2	142956235	T	A	T142956235A	KYNU	NM_003937.3(KYNU):c.468T>A:p.Tyr156Ter	coding	Pathogenic/Likely_pathogenic
2	142960626	G	A	G142960626A	KYNU	NM_003937.3(KYNU):c.585G>A:p.Gly195=	coding	Benign
2	142960633	A	G	A142960633G	KYNU	NM_003937.3(KYNU):c.592A>G:p.Thr198Ala	coding	Pathogenic
2	142960779	G	A	G142960779A	KYNU	NM_003937.3(KYNU):c.729+9G>A	noncoding	Benign
2	142985113	T	C	T142985113C	KYNU	NM_003937.3(KYNU):c.759T>C:p.His253=	coding	Benign
2	143033269	G	A	G143033269A	KYNU	NM_003937.3(KYNU):c.989G>A:p.Arg330Gln	coding	Pathogenic
2	143040433	T	C	T143040433C	KYNU	NM_003937.3(KYNU):c.1047T>C:p.Phe349=	coding	Benign
2	143042056	C	T	C143042056T	KYNU	NM_003937.3(KYNU):c.1282C>T:p.Arg428Trp	coding	Pathogenic
2	143947121	C	A	C143947121A	GTDC1	NM_001006636.5(GTDC1):c.1308G>T:p.Pro436=	coding	Benign
2	144141915	A	G	A144141915G	GTDC1	NM_001006636.5(GTDC1):c.488T>C:p.Ile163Thr	coding	Benign
2	144389560	A	G	A144389560G	ZEB2	NM_014795.4(ZEB2):c.3536T>C:p.Ile1179Thr	coding	Benign
2	144389625	G	A	G144389625A	ZEB2	NM_014795.4(ZEB2):c.3471C>T:p.Asp1157=	coding	Benign
2	144389740	T	C	T144389740C	ZEB2	NM_014795.4(ZEB2):c.3356A>G:p.Gln1119Arg	coding	Pathogenic
2	144389769	G	T	G144389769T	ZEB2	NM_014795.4(ZEB2):c.3327C>A:p.Asn1109Lys	coding	Benign
2	144389811	C	T	C144389811T	ZEB2	NM_014795.4(ZEB2):c.3285G>A:p.Ala1095=	coding	Benign
2	144389853	G	T	G144389853T	ZEB2	NM_014795.4(ZEB2):c.3243C>A:p.Cys1081Ter	coding	Pathogenic
2	144389878	T	C	T144389878C	ZEB2	NM_014795.4(ZEB2):c.3218A>G:p.His1073Arg	coding	Pathogenic
2	144389882	G	A	G144389882A	ZEB2	NM_014795.4(ZEB2):c.3214C>T:p.Gln1072Ter	coding	Pathogenic
2	144389885	A	G	A144389885G	ZEB2	NM_014795.4(ZEB2):c.3211T>C:p.Ser1071Pro	coding	Pathogenic
2	144389890	G	T	G144389890T	ZEB2	NM_014795.4(ZEB2):c.3206C>A:p.Ser1069Ter	coding	Pathogenic
2	144389926	C	T	C144389926T	ZEB2	NM_014795.4(ZEB2):c.3170G>A:p.Cys1057Tyr	coding	Pathogenic
2	144389950	T	G	T144389950G	ZEB2	NM_014795.4(ZEB2):c.3146A>C:p.His1049Pro	coding	Pathogenic
2	144389959	G	T	G144389959T	ZEB2	NM_014795.4(ZEB2):c.3137C>A:p.Ser1046Ter	coding	Pathogenic
2	144389962	T	C	T144389962C	ZEB2	NM_014795.4(ZEB2):c.3134A>G:p.His1045Arg	coding	Pathogenic
2	144389987	T	A	T144389987A	ZEB2	NM_014795.4(ZEB2):c.3109A>T:p.Lys1037Ter	coding	Pathogenic
2	144390191	C	T	C144390191T	ZEB2	NM_014795.4(ZEB2):c.3068-163G>A	noncoding	Benign
2	144396406	T	A	T144396406A	ZEB2	NM_014795.4(ZEB2):c.3067+6A>T	noncoding	Benign/Likely_benign
2	144396411	C	T	C144396411T	ZEB2	NM_014795.4(ZEB2):c.3067+1G>A	noncoding	Pathogenic
2	144396433	G	A	G144396433A	ZEB2	NM_014795.4(ZEB2):c.3046C>T:p.Arg1016Ter	coding	Pathogenic/Likely_pathogenic
2	144396454	G	A	G144396454A	ZEB2	NM_014795.4(ZEB2):c.3025C>T:p.Gln1009Ter	coding	Pathogenic
2	144396506	G	A	G144396506A	ZEB2	NM_014795.4(ZEB2):c.2973C>T:p.Ile991=	coding	Benign/Likely_benign
2	144396571	G	A	G144396571A	ZEB2	NM_014795.4(ZEB2):c.2908C>T:p.Gln970Ter	coding	Pathogenic
2	144396585	A	T	A144396585T	ZEB2	NM_014795.4(ZEB2):c.2894T>A:p.Leu965Ter	coding	Pathogenic
2	144396596	C	T	C144396596T	ZEB2	NM_014795.4(ZEB2):c.2887-4G>A	noncoding	Benign
2	144398164	T	C	T144398164C	ZEB2	NM_014795.4(ZEB2):c.2886+137A>G	noncoding	Benign
2	144398287	A	G	A144398287G	ZEB2	NM_014795.4(ZEB2):c.2886+14T>C	noncoding	Benign
2	144398383	A	G	A144398383G	ZEB2	NM_014795.4(ZEB2):c.2804T>C:p.Met935Thr	coding	Benign
2	144398426	G	A	G144398426A	ZEB2	NM_014795.4(ZEB2):c.2761C>T:p.Arg921Ter	coding	Pathogenic
2	144398486	G	A	G144398486A	ZEB2	NM_014795.4(ZEB2):c.2701C>T:p.Gln901Ter	coding	Pathogenic
2	144398578	G	T	G144398578T	ZEB2	NM_014795.4(ZEB2):c.2609C>A:p.Ser870Ter	coding	Pathogenic
2	144398586	C	T	C144398586T	ZEB2	NM_014795.4(ZEB2):c.2601G>A:p.Lys867=	coding	Benign/Likely_benign
2	144398622	G	C	G144398622C	ZEB2	NM_014795.4(ZEB2):c.2565C>G:p.Asn855Lys	coding	Benign
2	144398632	G	C	G144398632C	ZEB2	NM_014795.4(ZEB2):c.2555C>G:p.Ser852Ter	coding	Pathogenic
2	144398649	A	T	A144398649T	ZEB2	NM_014795.4(ZEB2):c.2538T>A:p.His846Gln	coding	Benign
2	144398762	C	A	C144398762A	ZEB2	NM_014795.4(ZEB2):c.2425G>T:p.Glu809Ter	coding	Pathogenic
2	144398826	A	G	A144398826G	ZEB2	NM_014795.4(ZEB2):c.2361T>C:p.Asn787=	coding	Benign/Likely_benign
2	144398932	G	A	G144398932A	ZEB2	NM_014795.4(ZEB2):c.2255C>T:p.Thr752Met	coding	Benign/Likely_benign
2	144398957	T	C	T144398957C	ZEB2	NM_014795.4(ZEB2):c.2230A>G:p.Ile744Val	coding	Benign/Likely_benign
2	144398981	T	C	T144398981C	ZEB2	NM_014795.4(ZEB2):c.2206A>G:p.Met736Val	coding	Benign/Likely_benign
2	144398982	A	G	A144398982G	ZEB2	NM_014795.4(ZEB2):c.2205T>C:p.Pro735=	coding	Benign
2	144398984	G	A	G144398984A	ZEB2	NM_014795.4(ZEB2):c.2203C>T:p.Pro735Ser	coding	Benign
2	144399045	C	T	C144399045T	ZEB2	NM_014795.4(ZEB2):c.2142G>A:p.Pro714=	coding	Benign/Likely_benign
2	144399046	G	A	G144399046A	ZEB2	NM_014795.4(ZEB2):c.2141C>T:p.Pro714Leu	coding	Benign/Likely_benign
2	144399068	A	T	A144399068T	ZEB2	NM_014795.4(ZEB2):c.2119T>A:p.Ser707Thr	coding	Benign
2	144399085	G	T	G144399085T	ZEB2	NM_014795.4(ZEB2):c.2102C>A:p.Ser701Ter	coding	Pathogenic
2	144399087	G	C	G144399087C	ZEB2	NM_014795.4(ZEB2):c.2100C>G:p.Tyr700Ter	coding	Pathogenic
2	144399092	G	A	G144399092A	ZEB2	NM_014795.4(ZEB2):c.2095C>T:p.Gln699Ter	coding	Pathogenic
2	144399104	G	A	G144399104A	ZEB2	NM_014795.4(ZEB2):c.2083C>T:p.Arg695Ter	coding	Pathogenic
2	144399115	C	T	C144399115T	ZEB2	NM_014795.4(ZEB2):c.2072G>A:p.Trp691Ter	coding	Pathogenic
2	144399231	G	T	G144399231T	ZEB2	NM_014795.4(ZEB2):c.1956C>A:p.Tyr652Ter	coding	Pathogenic
2	144399311	C	A	C144399311A	ZEB2	NM_014795.4(ZEB2):c.1876G>T:p.Gly626Ter	coding	Pathogenic
2	144399339	A	C	A144399339C	ZEB2	NM_014795.4(ZEB2):c.1848T>G:p.Pro616=	coding	Benign/Likely_benign
2	144399347	G	A	G144399347A	ZEB2	NM_014795.4(ZEB2):c.1840C>T:p.Leu614=	coding	Benign/Likely_benign
2	144399362	C	A	C144399362A	ZEB2	NM_014795.4(ZEB2):c.1825G>T:p.Glu609Ter	coding	Pathogenic
2	144399381	G	C	G144399381C	ZEB2	NM_014795.4(ZEB2):c.1806C>G:p.Tyr602Ter	coding	Pathogenic
2	144399438	G	T	G144399438T	ZEB2	NM_014795.4(ZEB2):c.1749C>A:p.Cys583Ter	coding	Pathogenic
2	144399542	T	A	T144399542A	ZEB2	NM_014795.4(ZEB2):c.1645A>T:p.Arg549Ter	coding	Pathogenic
2	144399547	G	C	G144399547C	ZEB2	NM_014795.4(ZEB2):c.1640C>G:p.Ser547Ter	coding	Pathogenic
2	144399600	C	T	C144399600T	ZEB2	NM_014795.4(ZEB2):c.1587G>A:p.Thr529=	coding	Benign
2	144399654	G	A	G144399654A	ZEB2	NM_014795.4(ZEB2):c.1533C>T:p.Val511=	coding	Benign
2	144399698	G	A	G144399698A	ZEB2	NM_014795.4(ZEB2):c.1489C>T:p.Gln497Ter	coding	Pathogenic
2	144399707	G	A	G144399707A	ZEB2	NM_014795.4(ZEB2):c.1480C>T:p.Pro494Ser	coding	Benign/Likely_benign
2	144399720	A	T	A144399720T	ZEB2	NM_014795.4(ZEB2):c.1467T>A:p.Tyr489Ter	coding	Pathogenic
2	144399736	G	T	G144399736T	ZEB2	NM_014795.4(ZEB2):c.1451C>A:p.Ser484Ter	coding	Pathogenic
2	144399749	C	A	C144399749A	ZEB2	NM_014795.4(ZEB2):c.1438G>T:p.Ala480Ser	coding	Benign/Likely_benign
2	144399753	G	T	G144399753T	ZEB2	NM_014795.4(ZEB2):c.1434C>A:p.Cys478Ter	coding	Pathogenic
2	144399777	A	T	A144399777T	ZEB2	NM_014795.4(ZEB2):c.1410T>A:p.Thr470=	coding	Benign/Likely_benign
2	144399806	G	A	G144399806A	ZEB2	NM_014795.4(ZEB2):c.1381C>T:p.Gln461Ter	coding	Pathogenic
2	144399851	G	A	G144399851A	ZEB2	NM_014795.4(ZEB2):c.1336C>T:p.Pro446Ser	coding	Benign/Likely_benign
2	144399878	G	A	G144399878A	ZEB2	NM_014795.4(ZEB2):c.1309C>T:p.Gln437Ter	coding	Pathogenic
2	144399910	A	C	A144399910C	ZEB2	NM_014795.4(ZEB2):c.1277T>G:p.Leu426Ter	coding	Pathogenic
2	144399910	A	T	A144399910T	ZEB2	NM_014795.4(ZEB2):c.1277T>A:p.Leu426Ter	coding	Pathogenic
2	144399911	A	T	A144399911T	ZEB2	NM_014795.4(ZEB2):c.1276T>A:p.Leu426Ile	coding	Benign/Likely_benign
2	144400026	T	C	T144400026C	ZEB2	NM_014795.4(ZEB2):c.1161A>G:p.Leu387=	coding	Benign/Likely_benign
2	144400081	A	T	A144400081T	ZEB2	NM_014795.4(ZEB2):c.1106T>A:p.Leu369Ter	coding	Pathogenic
2	144400085	G	A	G144400085A	ZEB2	NM_014795.4(ZEB2):c.1102C>T:p.Gln368Ter	coding	Pathogenic
2	144400160	G	A	G144400160A	ZEB2	NM_014795.4(ZEB2):c.1027C>T:p.Arg343Ter	coding	Pathogenic
2	144400190	T	A	T144400190A	ZEB2	NM_014795.4(ZEB2):c.997A>T:p.Lys333Ter	coding	Pathogenic
2	144400206	C	T	C144400206T	ZEB2	NM_014795.4(ZEB2):c.981G>A:p.Ser327=	coding	Benign/Likely_benign
2	144400207	G	T	G144400207T	ZEB2	NM_014795.4(ZEB2):c.980C>A:p.Ser327Ter	coding	Pathogenic
2	144400257	G	A	G144400257A	ZEB2	NM_014795.4(ZEB2):c.930C>T:p.Tyr310=	coding	Benign
2	144400257	G	T	G144400257T	ZEB2	NM_014795.4(ZEB2):c.930C>A:p.Tyr310Ter	coding	Pathogenic
2	144400291	A	G	A144400291G	ZEB2	NM_014795.4(ZEB2):c.917-21T>C	noncoding	Benign
2	144400545	A	G	A144400545G	ZEB2	NM_014795.4(ZEB2):c.917-275T>C	noncoding	Benign
2	144401194	C	T	C144401194T	ZEB2	NM_014795.4(ZEB2):c.916+5G>A	noncoding	Pathogenic
2	144401211	G	A	G144401211A	ZEB2	NM_014795.4(ZEB2):c.904C>T:p.Arg302Ter	coding	Pathogenic
2	144401292	G	A	G144401292A	ZEB2	NM_014795.4(ZEB2):c.823C>T:p.Gln275Ter	coding	Pathogenic
2	144401308	C	A	C144401308A	ZEB2	NM_014795.4(ZEB2):c.808-1G>T	coding	Pathogenic
2	144401309	T	C	T144401309C	ZEB2	NM_014795.4(ZEB2):c.808-2A>G	noncoding	Pathogenic
2	144401538	T	G	T144401538G	ZEB2	NM_014795.4(ZEB2):c.808-231A>C	noncoding	Benign
2	144403913	C	G	C144403913G	ZEB2	NM_014795.4(ZEB2):c.807+3G>C	noncoding	Benign/Likely_benign
2	144403913	C	T	C144403913T	ZEB2	NM_014795.4(ZEB2):c.807+3G>A	noncoding	Benign
2	144403918	G	A	G144403918A	ZEB2	NM_014795.4(ZEB2):c.805C>T:p.Gln269Ter	coding	Pathogenic
2	144403925	C	G	C144403925G	ZEB2	NM_014795.4(ZEB2):c.798G>C:p.Gly266=	coding	Benign/Likely_benign
2	144403955	G	A	G144403955A	ZEB2	NM_014795.4(ZEB2):c.768C>T:p.Leu256=	coding	Benign
2	144403964	G	A	G144403964A	ZEB2	NM_014795.4(ZEB2):c.759C>T:p.Arg253=	coding	Benign/Likely_benign
2	144404020	C	A	C144404020A	ZEB2	NM_014795.4(ZEB2):c.703G>T:p.Glu235Ter	coding	Pathogenic
2	144404021	G	A	G144404021A	ZEB2	NM_014795.4(ZEB2):c.702C>T:p.His234=	coding	Benign/Likely_benign
2	144404049	G	T	G144404049T	ZEB2	NM_014795.4(ZEB2):c.674C>A:p.Ser225Ter	coding	Pathogenic
2	144404063	G	C	G144404063C	ZEB2	NM_014795.4(ZEB2):c.660C>G:p.Tyr220Ter	coding	Pathogenic
2	144404335	A	G	A144404335G	ZEB2	NM_014795.4(ZEB2):c.593-205T>C	noncoding	Benign
2	144404369	T	G	T144404369G	ZEB2	NM_014795.4(ZEB2):c.593-239A>C	noncoding	Benign
2	144404377	T	G	T144404377G	ZEB2	NM_014795.4(ZEB2):c.593-247A>C	noncoding	Benign
2	144404926	G	A	G144404926A	ZEB2	NM_014795.4(ZEB2):c.502C>T:p.Gln168Ter	coding	Pathogenic
2	144404935	C	A	C144404935A	ZEB2	NM_014795.4(ZEB2):c.493G>T:p.Glu165Ter	coding	Pathogenic
2	144404939	G	A	G144404939A	ZEB2	NM_014795.4(ZEB2):c.489C>T:p.Ile163=	coding	Benign/Likely_benign
2	144404966	C	T	C144404966T	ZEB2	NM_014795.4(ZEB2):c.462G>A:p.Glu154=	coding	Benign/Likely_benign
2	144405217	A	C	A144405217C	ZEB2	NM_014795.4(ZEB2):c.404-193T>G	noncoding	Benign
2	144424778	G	A	G144424778A	ZEB2	NM_014795.4(ZEB2):c.403+18C>T	noncoding	Benign/Likely_benign
2	144424804	T	C	T144424804C	ZEB2	NM_014795.4(ZEB2):c.395A>G:p.Asn132Ser	coding	Benign/Likely_benign
2	144424824	C	T	C144424824T	ZEB2	NM_014795.4(ZEB2):c.375G>A:p.Thr125=	coding	Benign
2	144424848	A	T	A144424848T	ZEB2	NM_014795.4(ZEB2):c.351T>A:p.Tyr117Ter	coding	Pathogenic
2	144429768	C	A	C144429768A	ZEB2	NM_014795.4(ZEB2):c.331+1G>T	noncoding	Pathogenic
2	144429803	G	A	G144429803A	ZEB2	NM_014795.4(ZEB2):c.297C>T:p.Asn99=	coding	Benign/Likely_benign
2	144429820	C	A	C144429820A	ZEB2	NM_014795.4(ZEB2):c.280G>T:p.Glu94Ter	coding	Pathogenic
2	144429858	C	G	C144429858G	ZEB2	NM_014795.4(ZEB2):c.242G>C:p.Arg81Thr	coding	Benign
2	144429876	C	T	C144429876T	ZEB2	NM_014795.4(ZEB2):c.224G>A:p.Ser75Asn	coding	Benign
2	144429950	G	A	G144429950A	ZEB2	NM_014795.4(ZEB2):c.150C>T:p.Asp50=	coding	Benign
2	144429961	C	A	C144429961A	ZEB2	NM_014795.4(ZEB2):c.139G>T:p.Ala47Ser	coding	Benign/Likely_benign
2	144430216	T	C	T144430216C	ZEB2	NM_014795.4(ZEB2):c.74-190A>G	noncoding	Benign
2	144517099	C	A	C144517099A	ZEB2	NM_014795.4(ZEB2):c.73+179G>T	noncoding	Benign
2	144517276	A	G	A144517276G	ZEB2	NM_014795.4(ZEB2):c.73+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	144517284	T	A	T144517284A	ZEB2	NM_014795.4(ZEB2):c.67A>T:p.Lys23Ter	coding	Pathogenic
2	144517341	G	C	G144517341C	ZEB2	NM_014795.4(ZEB2):c.10C>G:p.Pro4Ala	coding	Benign/Likely_benign
2	144517420	C	T	C144517420T	ZEB2	NM_014795.4(ZEB2):c.-69-1G>A	noncoding	Pathogenic
2	147938389	T	C	T147938389C	ORC4	NM_181741.4(ORC4):c.963A>G:p.Leu321=	coding	Benign
2	147948209	A	C	A147948209C	ORC4	NM_181741.4(ORC4):c.604T>G:p.Leu202Val	coding	Benign
2	147952440	T	C	T147952440C	ORC4	NM_181741.4(ORC4):c.521A>G:p.Tyr174Cys	coding	Pathogenic/Likely_pathogenic
2	147958859	T	C	T147958859C	ORC4	NM_181741.4(ORC4):c.233A>G:p.Asn78Ser	coding	Benign
2	147972798	G	C	G147972798C	ORC4	NM_181741.4(ORC4):c.166C>G:p.Leu56Val	coding	Benign
2	147975958	T	C	T147975958C	ORC4	NM_181741.4(ORC4):c.1A>G:p.Met1Val	coding	Pathogenic
2	148458195	T	C	T148458195C	MBD5	NM_018328.4(MBD5):c.-556-8T>C	noncoding	Benign
2	148458833	G	A	G148458833A	MBD5	NM_018328.4(MBD5):c.75G>A:p.Trp25Ter	coding	Pathogenic
2	148459092	A	G	A148459092G	MBD5	NM_018328.4(MBD5):c.113+221A>G	noncoding	Benign
2	148462624	A	G	A148462624G	MBD5	NM_018328.4(MBD5):c.156A>G:p.Thr52=	coding	Benign
2	148463723	G	C	G148463723C	MBD5	NM_018328.4(MBD5):c.217-16G>C	noncoding	Benign
2	148463738	G	C	G148463738C	MBD5	NM_001378120.1(MBD5):c.217-1G>C	noncoding	Pathogenic
2	148463819	A	G	A148463819G	MBD5	NM_018328.4(MBD5):c.297A>G:p.Leu99=	coding	Benign
2	148463920	G	A	G148463920A	MBD5	NM_018328.4(MBD5):c.397+1G>A	coding	Pathogenic
2	148468329	C	T	C148468329T	MBD5	NM_018328.4(MBD5):c.398-12C>T	noncoding	Benign
2	148468383	C	G	C148468383G	MBD5	NM_018328.4(MBD5):c.440C>G:p.Ser147Ter	coding	Pathogenic
2	148468414	A	G	A148468414G	MBD5	NM_018328.4(MBD5):c.471A>G:p.Thr157=	coding	Benign/Likely_benign
2	148468489	T	G	T148468489G	MBD5	NM_018328.4(MBD5):c.546T>G:p.Tyr182Ter	coding	Pathogenic
2	148468544	C	T	C148468544T	MBD5	NM_018328.4(MBD5):c.601C>T:p.Gln201Ter	coding	Pathogenic
2	148468631	C	T	C148468631T	MBD5	NM_018328.4(MBD5):c.688C>T:p.Gln230Ter	coding	Pathogenic
2	148468728	A	G	A148468728G	MBD5	NM_018328.4(MBD5):c.785A>G:p.Asn262Ser	coding	Benign
2	148468814	A	G	A148468814G	MBD5	NM_018328.5(MBD5):c.871A>G:p.Met291Val	coding	Benign
2	148468916	C	T	C148468916T	MBD5	NM_018328.4(MBD5):c.973C>T:p.Arg325Ter	coding	Pathogenic
2	148468982	C	T	C148468982T	MBD5	NM_018328.4(MBD5):c.1039C>T:p.Gln347Ter	coding	Pathogenic
2	148469192	A	G	A148469192G	MBD5	NM_018328.4(MBD5):c.1249A>G:p.Met417Val	coding	Benign
2	148469311	G	T	G148469311T	MBD5	NM_018328.4(MBD5):c.1368G>T:p.Ser456=	coding	Benign/Likely_benign
2	148469478	C	T	C148469478T	MBD5	NM_018328.4(MBD5):c.1535C>T:p.Ser512Phe	coding	Benign/Likely_benign
2	148469492	C	T	C148469492T	MBD5	NM_018328.4(MBD5):c.1549C>T:p.Gln517Ter	coding	Pathogenic
2	148469539	A	G	A148469539G	MBD5	NM_018328.4(MBD5):c.1596A>G:p.Val532=	coding	Benign
2	148469581	C	T	C148469581T	MBD5	NM_018328.4(MBD5):c.1638C>T:p.Ala546=	coding	Benign/Likely_benign
2	148469702	C	T	C148469702T	MBD5	NM_018328.4(MBD5):c.1759C>T:p.Gln587Ter	coding	Pathogenic
2	148469973	G	A	G148469973A	MBD5	NM_018328.4(MBD5):c.2030G>A:p.Ser677Asn	coding	Benign/Likely_benign
2	148470105	C	T	C148470105T	MBD5	NM_018328.4(MBD5):c.2162C>T:p.Pro721Leu	coding	Benign/Likely_benign
2	148470217	C	T	C148470217T	MBD5	NM_018328.4(MBD5):c.2274C>T:p.Ala758=	coding	Benign
2	148483092	T	G	T148483092G	MBD5	NM_018328.4(MBD5):c.2519-18T>G	noncoding	Benign
2	148485940	A	G	A148485940G	MBD5	NM_018328.4(MBD5):c.3044A>G:p.Gln1015Arg	coding	Benign/Likely_benign
2	148489377	T	C	T148489377C	MBD5	NM_018328.4(MBD5):c.3055-9T>C	noncoding	Benign/Likely_benign
2	148489425	A	T	A148489425T	MBD5	NM_018328.4(MBD5):c.3094A>T:p.Ile1032Leu	coding	Benign
2	148489574	T	A	T148489574A	MBD5	NM_018328.4(MBD5):c.3243T>A:p.Gly1081=	coding	Benign/Likely_benign
2	148489610	C	T	C148489610T	MBD5	NM_018328.4(MBD5):c.3279C>T:p.Val1093=	coding	Benign/Likely_benign
2	148489641	A	G	A148489641G	MBD5	NM_018328.4(MBD5):c.3310A>G:p.Ile1104Val	coding	Benign/Likely_benign
2	148489821	G	A	G148489821A	MBD5	NM_018328.4(MBD5):c.3490G>A:p.Ala1164Thr	coding	Benign/Likely_benign
2	148489831	C	T	C148489831T	MBD5	NM_018328.4(MBD5):c.3500C>T:p.Pro1167Leu	coding	Benign/Likely_benign
2	148489926	G	A	G148489926A	MBD5	NM_018328.4(MBD5):c.3595G>A:p.Gly1199Arg	coding	Benign/Likely_benign
2	148489990	G	A	G148489990A	MBD5	NM_018328.5(MBD5):c.3659G>A:p.Gly1220Asp	coding	Benign
2	148490033	C	T	C148490033T	MBD5	NM_018328.4(MBD5):c.3702C>T:p.Val1234=	coding	Benign/Likely_benign
2	148490061	C	T	C148490061T	MBD5	NM_001378120.1(MBD5):c.4429C>T:p.Gln1477Ter	coding	Pathogenic
2	148490070	A	G	A148490070G	MBD5	NM_018328.4(MBD5):c.3739A>G:p.Ile1247Val	coding	Benign
2	148490227	G	A	G148490227A	MBD5	NM_018328.4(MBD5):c.3896G>A:p.Arg1299Gln	coding	Benign/Likely_benign
2	148490566	C	A	C148490566A	MBD5	NM_018328.4(MBD5):c.4235C>A:p.Ser1412Ter	coding	Pathogenic
2	148490844	A	C	A148490844C	MBD5	NM_018328.4(MBD5):c.4263+250A>C	noncoding	Benign
2	148502379	C	T	C148502379T	MBD5	NM_018328.4(MBD5):c.4264-57C>T	noncoding	Benign
2	148502380	G	A	G148502380A	MBD5	NM_018328.4(MBD5):c.4264-56G>A	noncoding	Benign
2	148502425	C	T	C148502425T	MBD5	NM_018328.4(MBD5):c.4264-11C>T	noncoding	Benign
2	148645035	C	T	C148645035T	EPC2	NM_015630.4(EPC2):c.18C>T:p.Phe6=	coding	Benign
2	148754142	C	T	C148754142T	EPC2	NM_015630.4(EPC2):c.666+9C>T	noncoding	Benign
2	148761874	A	G	A148761874G	EPC2	NM_015630.4(EPC2):c.759A>G:p.Arg253=	coding	Benign
2	148781756	G	A	G148781756A	EPC2	NM_015630.4(EPC2):c.1833G>A:p.Ser611=	coding	Benign
2	148781756	G	T	G148781756T	EPC2	NM_015630.4(EPC2):c.1833G>T:p.Ser611=	coding	Benign
2	148875574	G	A	G148875574A	KIF5C	NM_004522.3(KIF5C):c.-44G>A	noncoding	Benign
2	148937098	A	T	A148937098T	KIF5C	NM_004522.3(KIF5C):c.292-186A>T	noncoding	Benign
2	148941699	G	A	G148941699A	KIF5C	NM_004522.3(KIF5C):c.445+41G>A	noncoding	Benign
2	148941998	G	A	G148941998A	KIF5C	NM_004522.3(KIF5C):c.501+8G>A	noncoding	Benign
2	148942702	T	C	T148942702C	KIF5C	NM_004522.3(KIF5C):c.531T>C:p.Pro177=	coding	Benign
2	148946843	A	T	A148946843T	KIF5C	NM_004522.3(KIF5C):c.590-56A>T	noncoding	Benign
2	148947018	G	A	G148947018A	KIF5C	NM_004522.3(KIF5C):c.709G>A:p.Glu237Lys	coding	Pathogenic
2	148947019	A	T	A148947019T	KIF5C	NM_004522.3(KIF5C):c.710A>T:p.Glu237Val	coding	Pathogenic
2	148949874	C	T	C148949874T	KIF5C	NM_004522.3(KIF5C):c.750C>T:p.Asp250=	coding	Benign
2	148949958	C	T	C148949958T	KIF5C	NM_004522.3(KIF5C):c.819+15C>T	noncoding	Benign
2	148961785	T	G	T148961785G	KIF5C	NM_004522.3(KIF5C):c.969-186T>G	noncoding	Benign
2	148978750	G	A	G148978750A	KIF5C	NM_004522.3(KIF5C):c.1294-172G>A	noncoding	Benign
2	148981618	T	G	T148981618G	KIF5C	NM_004522.3(KIF5C):c.1569+57T>G	noncoding	Benign
2	148994555	C	T	C148994555T	KIF5C	NM_004522.3(KIF5C):c.2023+17C>T	noncoding	Benign
2	148994725	T	C	T148994725C	KIF5C	NM_004522.3(KIF5C):c.2023+187T>C	noncoding	Benign
2	148994757	C	T	C148994757T	KIF5C	NM_004522.3(KIF5C):c.2023+219C>T	noncoding	Benign
2	148996967	G	A	G148996967A	KIF5C	NM_004522.3(KIF5C):c.2024-297G>A	noncoding	Benign
2	148998468	C	T	C148998468T	KIF5C	NM_004522.3(KIF5C):c.2169C>T:p.Asp723=	coding	Benign
2	148998811	A	G	A148998811G	KIF5C	NM_004522.3(KIF5C):c.2210+302A>G	noncoding	Benign
2	149001085	T	C	T149001085C	KIF5C	NM_004522.3(KIF5C):c.2373+303T>C	noncoding	Benign
2	149005511	G	C	G149005511C	KIF5C	NM_004522.3(KIF5C):c.2445+47G>C	noncoding	Benign
2	149005747	A	G	A149005747G	KIF5C	NM_004522.3(KIF5C):c.2445+283A>G	noncoding	Benign
2	149010366	A	C	A149010366C	KIF5C	NM_004522.3(KIF5C):c.2767+15A>C	noncoding	Benign
2	149468745	C	T	C149468745T	LYPD6	NM_194317.5(LYPD6):c.318C>T:p.Gly106=	coding	Benign
2	149569810	T	C	T149569810C	MMADHC	NM_015702.3(MMADHC):c.*164A>G	noncoding	Benign
2	149569848	T	C	T149569848C	MMADHC	NM_015702.3(MMADHC):c.*126A>G	noncoding	Benign
2	149569885	A	G	A149569885G	MMADHC	NM_015702.3(MMADHC):c.*89T>C	noncoding	Benign
2	149570089	A	G	A149570089G	MMADHC	NM_015702.3(MMADHC):c.776T>C:p.Leu259Pro	coding	Pathogenic
2	149570117	G	A	G149570117A	MMADHC	NM_015702.3(MMADHC):c.748C>T:p.Arg250Ter	coding	Pathogenic
2	149570119	T	C	T149570119C	MMADHC	NM_015702.3(MMADHC):c.746A>G:p.Tyr249Cys	coding	Pathogenic
2	149571135	G	A	G149571135A	MMADHC	NM_015702.3(MMADHC):c.646C>T:p.Arg216Ter	coding	Pathogenic
2	149571164	T	C	T149571164C	MMADHC	NM_015702.3(MMADHC):c.617A>G:p.Asn206Ser	coding	Benign/Likely_benign
2	149575775	G	T	G149575775T	MMADHC	NM_015702.3(MMADHC):c.545C>A:p.Thr182Asn	coding	Pathogenic
2	149576176	T	A	T149576176A	MMADHC	NM_015702.3(MMADHC):c.478+261A>T	noncoding	Benign
2	149576431	A	C	A149576431C	MMADHC	NM_015702.3(MMADHC):c.478+6T>G	noncoding	Benign
2	149576442	C	T	C149576442T	MMADHC	NM_015702.3(MMADHC):c.473G>A:p.Arg158Gln	coding	Benign/Likely_benign
2	149576443	G	A	G149576443A	MMADHC	NM_015702.3(MMADHC):c.472C>T:p.Arg158Ter	coding	Pathogenic
2	149576462	C	T	C149576462T	MMADHC	NM_015702.3(MMADHC):c.453G>A:p.Gln151=	coding	Benign
2	149576487	C	A	C149576487A	MMADHC	NM_015702.3(MMADHC):c.428G>T:p.Ser143Ile	coding	Benign
2	149576495	G	A	G149576495A	MMADHC	NM_015702.3(MMADHC):c.420C>T:p.Tyr140=	coding	Benign/Likely_benign
2	149576503	C	T	C149576503T	MMADHC	NM_015702.3(MMADHC):c.412G>A:p.Glu138Lys	coding	Benign
2	149579643	G	A	G149579643A	MMADHC	NM_015702.3(MMADHC):c.160C>T:p.Arg54Ter	coding	Pathogenic
2	149582194	T	G	T149582194G	MMADHC	NM_015702.3(MMADHC):c.87A>C:p.Lys29Asn	coding	Benign/Likely_benign
2	149587105	G	A	G149587105A	MMADHC	NM_015702.3(MMADHC):c.-8C>T	noncoding	Benign/Likely_benign
2	149587146	A	G	A149587146G	MMADHC	NM_015702.3(MMADHC):c.-49T>C	noncoding	Benign
2	149587756	T	C	T149587756C	MMADHC	NM_015702.3(MMADHC):c.-145A>G	noncoding	Benign/Likely_benign
2	150470170	A	G	A150470170G	RND3	NM_001254738.1(RND3):c.552T>C:p.Asn184=	coding	Benign
2	150487403	T	C	T150487403C	RND3	NM_001254738.1(RND3):c.15A>G:p.Arg5=	coding	Benign
2	151463987	T	C	T151463987C	RIF1	NM_018151.5(RIF1):c.4467T>C:p.Thr1489=	coding	Benign
2	151464068	T	C	T151464068C	RIF1	NM_018151.5(RIF1):c.4548T>C:p.Asp1516=	coding	Benign
2	151485796	G	A	G151485796A	NEB	NM_001271208.2(NEB):c.25647C>T:p.Thr8549=	coding	Benign
2	151485967	A	G	A151485967G	NEB	NM_001271208.2(NEB):c.25510-34T>C	noncoding	Benign
2	151489980	A	C	A151489980C	NEB	NM_001271208.2(NEB):c.25500T>G:p.Ser8500=	coding	Benign
2	151490039	G	A	G151490039A	NEB	NM_001271208.2(NEB):c.25441C>T:p.Arg8481Ter	coding	Pathogenic
2	151490410	G	T	G151490410T	NEB	NM_001271208.2(NEB):c.25364C>A:p.Ser8455Ter	coding	Pathogenic
2	151490465	T	C	T151490465C	NEB	NM_001271208.2(NEB):c.25309A>G:p.Ile8437Val	coding	Benign
2	151490486	G	A	G151490486A	NEB	NM_001271208.2(NEB):c.25288C>T:p.Arg8430Ter	coding	Pathogenic/Likely_pathogenic
2	151490495	C	A	C151490495A	NEB	NM_001271208.2(NEB):c.25279G>T:p.Glu8427Ter	coding	Pathogenic
2	151490508	C	T	C151490508T	NEB	NM_001271208.2(NEB):c.25266G>A:p.Gln8422=	coding	Benign/Likely_benign
2	151491671	C	T	C151491671T	NEB	NM_001271208.2(NEB):c.25255+12G>A	noncoding	Benign
2	151491697	A	C	A151491697C	NEB	NM_001271208.2(NEB):c.25241T>G:p.Leu8414Ter	coding	Pathogenic
2	151492328	T	A	T151492328A	NEB	NM_001271208.2(NEB):c.24979-47A>T	noncoding	Benign
2	151492512	G	A	G151492512A	NEB	NM_001271208.2(NEB):c.24871-18C>T	noncoding	Benign
2	151493859	G	C	G151493859C	NEB	NM_001271208.2(NEB):c.24693C>G:p.Tyr8231Ter	coding	Pathogenic
2	151494161	C	T	C151494161T	NEB	NM_001271208.2(NEB):c.24684G>A:p.Ser8228=	coding	Pathogenic/Likely_pathogenic
2	151496308	G	A	G151496308A	NEB	NM_001271208.2(NEB):c.24559C>T:p.Arg8187Ter	coding	Pathogenic/Likely_pathogenic
2	151496329	C	G	C151496329G	NEB	NM_001271208.2(NEB):c.24538G>C:p.Ala8180Pro	coding	Benign
2	151496360	G	C	G151496360C	NEB	NM_001271208.2(NEB):c.24507C>G:p.Tyr8169Ter	coding	Pathogenic
2	151497662	C	T	C151497662T	NEB	NM_001271208.2(NEB):c.24369G>A:p.Met8123Ile	coding	Benign/Likely_benign
2	151497706	C	A	C151497706A	NEB	NM_001271208.2(NEB):c.24325G>T:p.Glu8109Ter	coding	Pathogenic/Likely_pathogenic
2	151497725	G	A	G151497725A	NEB	NM_001271208.2(NEB):c.24313-7C>T	noncoding	Benign/Likely_benign
2	151498261	G	T	G151498261T	NEB	NM_001271208.2(NEB):c.24311C>A:p.Ser8104Ter	coding	Pathogenic
2	151498295	G	A	G151498295A	NEB	NM_001271208.2(NEB):c.24277C>T:p.Gln8093Ter	coding	Pathogenic
2	151499297	C	T	C151499297T	NEB	NM_001271208.2(NEB):c.24219+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151499356	G	A	G151499356A	NEB	NM_001271208.2(NEB):c.24161C>T:p.Pro8054Leu	coding	Benign/Likely_benign
2	151501423	G	A	G151501423A	NEB	NM_001271208.2(NEB):c.24094C>T:p.Arg8032Ter	coding	Pathogenic/Likely_pathogenic
2	151506189	G	A	G151506189A	NEB	NM_001271208.2(NEB):c.23731C>T:p.Gln7911Ter	coding	Pathogenic
2	151506216	T	G	T151506216G	NEB	NM_001271208.2(NEB):c.23704A>C:p.Lys7902Gln	coding	Benign
2	151506954	C	T	C151506954T	NEB	NM_001271208.2(NEB):c.23616G>A:p.Thr7872=	coding	Benign
2	151506970	G	A	G151506970A	NEB	NM_001271208.2(NEB):c.23600C>T:p.Thr7867Ile	coding	Benign/Likely_benign
2	151508075	G	A	G151508075A	NEB	NM_001271208.2(NEB):c.23486C>T:p.Ser7829Leu	coding	Benign/Likely_benign
2	151513538	A	G	A151513538G	NEB	NM_001271208.2(NEB):c.23346+42T>C	noncoding	Benign
2	151513681	G	A	G151513681A	NEB	NM_001271208.2(NEB):c.23245C>T:p.Arg7749Ter	coding	Pathogenic
2	151514390	C	T	C151514390T	NEB	NM_001271208.2(NEB):c.23160G>A:p.Gly7720=	coding	Benign
2	151516460	C	T	C151516460T	NEB	NM_001271208.2(NEB):c.23009G>A:p.Gly7670Glu	coding	Benign
2	151516533	G	A	G151516533A	NEB	NM_001271208.2(NEB):c.22936C>T:p.Arg7646Ter	coding	Pathogenic
2	151518286	G	A	G151518286A	NEB	NM_001271208.2(NEB):c.22905+32C>T	noncoding	Benign
2	151518326	G	A	G151518326A	NEB	NM_001271208.2(NEB):c.22897C>T:p.Gln7633Ter	coding	Pathogenic
2	151519015	C	A	C151519015A	NEB	NM_001271208.2(NEB):c.22750G>T:p.Glu7584Ter	coding	Pathogenic
2	151519070	C	G	C151519070G	NEB	NM_001271208.2(NEB):c.22696-1G>C	coding	Pathogenic/Likely_pathogenic
2	151524310	C	G	C151524310G	NEB	NM_001271208.2(NEB):c.22584+1G>C	noncoding	Pathogenic
2	151524311	C	G	C151524311G	NEB;RIF1	NM_001271208.2(NEB):c.22584G>C:p.Gln7528His	coding	Pathogenic
2	151524362	G	A	G151524362A	NEB	NM_001271208.2(NEB):c.22533C>T:p.Leu7511=	coding	Benign/Likely_benign
2	151524562	G	A	G151524562A	NEB	NM_001271208.2(NEB):c.22432C>T:p.Arg7478Ter	coding	Pathogenic
2	151525265	G	C	G151525265C	NEB	NM_001271208.2(NEB):c.22275C>G:p.Tyr7425Ter	coding	Pathogenic/Likely_pathogenic
2	151525940	C	G	C151525940G	NEB	NM_001271208.2(NEB):c.22266+18G>C	noncoding	Benign
2	151525975	T	G	T151525975G	NEB	NM_001271208.2(NEB):c.22249A>C:p.Thr7417Pro	coding	Pathogenic
2	151526245	T	C	T151526245C	NEB	NM_001271208.2(NEB):c.22068A>G:p.Lys7356=	coding	Benign
2	151527007	C	T	C151527007T	NEB	NM_001271208.2(NEB):c.21961G>A:p.Asp7321Asn	coding	Benign
2	151527483	C	T	C151527483T	NEB	NM_001271208.2(NEB):c.21943G>A:p.Asp7315Asn	coding	Benign
2	151531039	T	C	T151531039C	NEB	NM_001271208.2(NEB):c.21690A>G:p.Thr7230=	coding	Benign
2	151531078	G	A	G151531078A	NEB	NM_001271208.2(NEB):c.21651C>T:p.Asn7217=	coding	Benign
2	151531795	G	A	G151531795A	NEB	NM_001271208.2(NEB):c.21624C>T:p.Ser7208=	coding	Benign
2	151531823	C	T	C151531823T	NEB	NM_001271208.2(NEB):c.21596G>A:p.Arg7199His	coding	Benign/Likely_benign
2	151531888	G	T	G151531888T	NEB	NM_001271208.2(NEB):c.21531C>A:p.Tyr7177Ter	coding	Pathogenic
2	151531895	A	G	A151531895G	NEB	NM_001271208.2(NEB):c.21524T>C:p.Ile7175Thr	coding	Benign/Likely_benign
2	151533477	A	G	A151533477G	NEB	NM_001271208.2(NEB):c.21487T>C:p.Leu7163=	coding	Benign
2	151537898	G	A	G151537898A	NEB	NM_001271208.2(NEB):c.21076C>T:p.Arg7026Ter	coding	Pathogenic/Likely_pathogenic
2	151537930	G	C	G151537930C	NEB	NM_001271208.2(NEB):c.21044C>G:p.Ser7015Cys	coding	Benign/Likely_benign
2	151538020	T	G	T151538020G	NEB	NM_001271208.2(NEB):c.20998-44A>C	noncoding	Benign
2	151540428	A	T	A151540428T	NEB	NM_001271208.2(NEB):c.20808T>A:p.Tyr6936Ter	coding	Pathogenic
2	151540718	G	A	G151540718A	NEB	NM_001271208.2(NEB):c.20766C>T:p.Asp6922=	coding	Benign
2	151541531	G	C	G151541531C	NEB	NM_001271208.2(NEB):c.20598C>G:p.Gly6866=	coding	Benign
2	151545962	G	A	G151545962A	NEB	NM_001271208.2(NEB):c.20503C>T:p.Arg6835Ter	coding	Pathogenic
2	151546000	T	G	T151546000G	NEB	NM_001271208.2(NEB):c.20467-2A>C	noncoding	Pathogenic
2	151546002	A	T	A151546002T	NEB	NM_001271208.2(NEB):c.20467-4T>A	noncoding	Benign/Likely_benign
2	151547704	T	A	T151547704A	NEB	NM_001271208.2(NEB):c.20192A>T:p.Asp6731Val	coding	Benign
2	151547780	C	T	C151547780T	NEB	NM_001271208.2(NEB):c.20158-42G>A	noncoding	Benign
2	151548306	A	T	A151548306T	NEB	NM_001164508.2(NEB):c.20157+2T>A	noncoding	Pathogenic
2	151548376	C	T	C151548376T	NEB	NM_001271208.2(NEB):c.20089G>A:p.Gly6697Arg	coding	Benign/Likely_benign
2	151548387	G	A	G151548387A	NEB	NM_001271208.2(NEB):c.20078C>T:p.Thr6693Ile	coding	Benign/Likely_benign
2	151551753	G	C	G151551753C	NEB	NM_001271208.2(NEB):c.19929C>G:p.Tyr6643Ter	coding	Pathogenic
2	151551831	A	T	A151551831T	NEB	NM_001271208.2(NEB):c.19851T>A:p.Tyr6617Ter	coding	Pathogenic
2	151552708	G	C	G151552708C	NEB	NM_001271208.2(NEB):c.19800C>G:p.Tyr6600Ter	coding	Pathogenic
2	151552782	G	A	G151552782A	NEB	NM_001271208.2(NEB):c.19732-6C>T	noncoding	Benign
2	151553464	A	G	A151553464G	NEB	NM_001271208.2(NEB):c.19665T>C:p.Ile6555=	coding	Benign/Likely_benign
2	151554954	G	A	G151554954A	NEB	NM_001271208.2(NEB):c.19405C>T:p.Arg6469Ter	coding	Pathogenic
2	151554982	G	A	G151554982A	NEB	NM_001271208.2(NEB):c.19377C>T:p.Asp6459=	coding	Benign
2	151560550	G	A	G151560550A	NEB	NM_001271208.2(NEB):c.19314+42C>T	noncoding	Benign
2	151560595	G	A	G151560595A	NEB	NM_001271208.2(NEB):c.19311C>T:p.Ser6437=	coding	Benign
2	151560611	T	C	T151560611C	NEB	NM_001271208.2(NEB):c.19295A>G:p.Gln6432Arg	coding	Benign/Likely_benign
2	151560620	G	T	G151560620T	NEB	NM_001271208.2(NEB):c.19286C>A:p.Ala6429Asp	coding	Benign
2	151560621	C	T	C151560621T	NEB	NM_001271208.2(NEB):c.19285G>A:p.Ala6429Thr	coding	Benign
2	151561114	G	A	G151561114A	NEB	NM_001271208.2(NEB):c.19102-6C>T	noncoding	Benign
2	151561167	G	A	G151561167A	NEB	NM_001271208.2(NEB):c.19101+41C>T	noncoding	Benign
2	151561212	C	A	C151561212A	NEB	NM_001271208.2(NEB):c.19097G>T:p.Ser6366Ile	coding	Pathogenic
2	151561253	C	A	C151561253A	NEB	NM_001271208.2(NEB):c.19056G>T:p.Thr6352=	coding	Benign/Likely_benign
2	151561322	A	G	A151561322G	NEB	NM_001271208.2(NEB):c.18997-10T>C	noncoding	Benign/Likely_benign
2	151562637	G	A	G151562637A	NEB	NM_001271208.2(NEB):c.18865C>T:p.Arg6289Ter	coding	Pathogenic/Likely_pathogenic
2	151562641	G	A	G151562641A	NEB	NM_001271208.2(NEB):c.18861C>T:p.Arg6287=	coding	Benign/Likely_benign
2	151562694	G	A	G151562694A	NEB	NM_001271208.2(NEB):c.18808C>T:p.Arg6270Ter	coding	Pathogenic
2	151562719	C	T	C151562719T	NEB	NM_001271208.2(NEB):c.18783G>A:p.Gln6261=	coding	Benign
2	151563606	C	G	C151563606G	NEB	NM_001271208.2(NEB):c.18693G>C:p.Ala6231=	coding	Benign
2	151563623	G	A	G151563623A	NEB	NM_001271208.2(NEB):c.18676C>T:p.Gln6226Ter	coding	Pathogenic
2	151563751	G	A	G151563751A	NEB	NM_001271208.2(NEB):c.18580-32C>T	noncoding	Benign
2	151563847	C	T	C151563847T	NEB	NM_001271208.2(NEB):c.18555G>A:p.Lys6185=	coding	Benign
2	151563871	G	A	G151563871A	NEB	NM_001271208.2(NEB):c.18531C>T:p.Arg6177=	coding	Benign
2	151565562	C	G	C151565562G	NEB	NM_001271208.2(NEB):c.18305G>C:p.Arg6102Thr	coding	Benign
2	151565573	A	G	A151565573G	NEB	NM_001271208.2(NEB):c.18294T>C:p.Tyr6098=	coding	Benign
2	151565822	T	C	T151565822C	NEB	NM_001271208.2(NEB):c.18157-2A>G	noncoding	Pathogenic
2	151567200	G	A	G151567200A	NEB	NM_001271208.2(NEB):c.18124C>T:p.Gln6042Ter	coding	Pathogenic
2	151567211	T	C	T151567211C	NEB	NM_001271208.2(NEB):c.18113A>G:p.Asn6038Ser	coding	Benign
2	151567437	C	T	C151567437T	NEB	NM_001271208.2(NEB):c.17887G>A:p.Val5963Ile	coding	Benign/Likely_benign
2	151567480	C	T	C151567480T	NEB	NM_001271208.2(NEB):c.17845-1G>A	coding	Pathogenic
2	151567481	T	A	T151567481A	NEB	NM_001271208.2(NEB):c.17845-2A>T	noncoding	Pathogenic
2	151568168	T	C	T151568168C	NEB	NM_001271208.2(NEB):c.17747A>G:p.Lys5916Arg	coding	Benign/Likely_benign
2	151568651	C	T	C151568651T	NEB	NM_001271208.2(NEB):c.17601G>A:p.Val5867=	coding	Benign
2	151570096	G	T	G151570096T	NEB	NM_001271208.2(NEB):c.17415C>A:p.Tyr5805Ter	coding	Pathogenic
2	151570207	C	T	C151570207T	NEB	NM_001271208.2(NEB):c.17304G>A:p.Leu5768=	coding	Benign/Likely_benign
2	151570249	C	T	C151570249T	NEB	NM_001271208.2(NEB):c.17262G>A:p.Trp5754Ter	coding	Pathogenic
2	151570496	C	T	C151570496T	NEB	NM_001271208.2(NEB):c.17118+1G>A	noncoding	Pathogenic
2	151570566	C	A	C151570566A	NEB	NM_001271208.2(NEB):c.17049G>T:p.Ala5683=	coding	Benign/Likely_benign
2	151575797	T	C	T151575797C	NEB	NM_001271208.2(NEB):c.16911A>G:p.Pro5637=	coding	Benign
2	151576271	G	A	G151576271A	NEB	NM_001271208.2(NEB):c.16788C>T:p.Asn5596=	coding	Benign/Likely_benign
2	151576297	A	T	A151576297T	NEB	NM_001271208.2(NEB):c.16762T>A:p.Ser5588Thr	coding	Benign
2	151576372	G	A	G151576372A	NEB	NM_001271208.2(NEB):c.16705-18C>T	noncoding	Benign
2	151579326	C	G	C151579326G	NEB	NM_001271208.2(NEB):c.16704+12G>C	noncoding	Benign
2	151579373	T	C	T151579373C	NEB	NM_001271208.2(NEB):c.16669A>G:p.Ile5557Val	coding	Benign
2	151579420	C	T	C151579420T	NEB	NM_001271208.2(NEB):c.16622G>A:p.Arg5541His	coding	Benign
2	151579422	A	T	A151579422T	NEB	NM_001271208.2(NEB):c.16620T>A:p.Tyr5540Ter	coding	Pathogenic
2	151579498	T	G	T151579498G	NEB	NM_001271208.2(NEB):c.16544A>C:p.Lys5515Thr	coding	Benign
2	151579500	G	C	G151579500C	NEB	NM_001271208.2(NEB):c.16542C>G:p.Ala5514=	coding	Benign
2	151579592	C	T	C151579592T	NEB	NM_001271208.2(NEB):c.16450G>A:p.Ala5484Thr	coding	Benign/Likely_benign
2	151579593	G	A	G151579593A	NEB	NM_001271208.2(NEB):c.16449C>T:p.Ser5483=	coding	Benign
2	151581472	T	C	T151581472C	NEB	NM_001271208.2(NEB):c.16284+11A>G	noncoding	Benign
2	151581477	T	C	T151581477C	NEB	NM_001271208.2(NEB):c.16284+6A>G	noncoding	Benign
2	151581498	G	A	G151581498A	NEB	NM_001271208.2(NEB):c.16269C>T:p.Ala5423=	coding	Benign/Likely_benign
2	151582622	A	G	A151582622G	NEB	NM_001271208.2(NEB):c.16021T>C:p.Leu5341=	coding	Benign/Likely_benign
2	151583609	T	A	T151583609A	NEB	NM_001271208.2(NEB):c.15821A>T:p.Asn5274Ile	coding	Benign/Likely_benign
2	151583649	C	A	C151583649A	NEB	NM_001271208.2(NEB):c.15781G>T:p.Glu5261Ter	coding	Pathogenic
2	151589956	T	C	T151589956C	NEB	NM_001271208.2(NEB):c.15179A>G:p.His5060Arg	coding	Benign/Likely_benign
2	151590049	T	G	T151590049G	NEB	NM_001271208.2(NEB):c.15086A>C:p.Lys5029Thr	coding	Benign/Likely_benign
2	151591368	A	T	A151591368T	NEB	NM_001271208.2(NEB):c.14914T>A:p.Ser4972Thr	coding	Benign/Likely_benign
2	151592126	T	C	T151592126C	NEB	NM_001271208.2(NEB):c.14734A>G:p.Asn4912Asp	coding	Benign
2	151600441	C	G	C151600441G	NEB	NM_001271208.2(NEB):c.13788+1G>C	noncoding	Pathogenic
2	151600441	C	T	C151600441T	NEB	NM_001271208.2(NEB):c.13788+1G>A	noncoding	Pathogenic
2	151600450	G	A	G151600450A	NEB	NM_001271208.2(NEB):c.13780C>T:p.Gln4594Ter	coding	Pathogenic
2	151600457	G	T	G151600457T	NEB	NM_001271208.2(NEB):c.13773C>A:p.Tyr4591Ter	coding	Pathogenic
2	151600474	G	A	G151600474A	NEB	NM_001271208.2(NEB):c.13756C>T:p.Gln4586Ter	coding	Pathogenic
2	151600526	A	T	A151600526T	NEB	NM_001271208.2(NEB):c.13704T>A:p.Tyr4568Ter	coding	Pathogenic
2	151600602	T	G	T151600602G	NEB	NM_001271208.2(NEB):c.13628A>C:p.Lys4543Thr	coding	Benign/Likely_benign
2	151600604	G	C	G151600604C	NEB	NM_001271208.2(NEB):c.13626C>G:p.Ala4542=	coding	Benign/Likely_benign
2	151600693	T	A	T151600693A	NEB	NM_001271208.2(NEB):c.13537A>T:p.Lys4513Ter	coding	Pathogenic
2	151601901	G	A	G151601901A	NEB	NM_001271208.2(NEB):c.13476C>T:p.Asp4492=	coding	Benign/Likely_benign
2	151601936	G	A	G151601936A	NEB	NM_001271208.2(NEB):c.13441C>T:p.Gln4481Ter	coding	Pathogenic
2	151601957	G	A	G151601957A	NEB	NM_001271208.2(NEB):c.13420C>T:p.Arg4474Ter	coding	Pathogenic
2	151602576	T	C	T151602576C	NEB	NM_001271208.2(NEB):c.13368+11A>G	noncoding	Benign/Likely_benign
2	151602602	G	A	G151602602A	NEB	NM_001271208.2(NEB):c.13353C>T:p.Ala4451=	coding	Benign/Likely_benign
2	151602679	C	T	C151602679T	NEB	NM_001271208.2(NEB):c.13276G>A:p.Asp4426Asn	coding	Benign/Likely_benign
2	151603685	G	A	G151603685A	NEB	NM_001271208.2(NEB):c.13147C>T:p.Gln4383Ter	coding	Pathogenic/Likely_pathogenic
2	151603727	G	A	G151603727A	NEB	NM_001271208.2(NEB):c.13105C>T:p.Leu4369=	coding	Benign/Likely_benign
2	151604628	G	A	G151604628A	NEB	NM_001271208.2(NEB):c.12991C>T:p.Gln4331Ter	coding	Pathogenic
2	151606620	C	A	C151606620A	NEB	NM_001271208.2(NEB):c.12733G>T:p.Glu4245Ter	coding	Pathogenic
2	151606669	A	C	A151606669C	NEB	NM_001271208.2(NEB):c.12684T>G:p.Tyr4228Ter	coding	Pathogenic
2	151606686	C	T	C151606686T	NEB	NM_001271208.2(NEB):c.12667G>A:p.Ala4223Thr	coding	Benign/Likely_benign
2	151606705	G	C	G151606705C	NEB	NM_001271208.2(NEB):c.12648C>G:p.Tyr4216Ter	coding	Pathogenic
2	151606717	T	C	T151606717C	NEB	NM_001271208.2(NEB):c.12640-4A>G	noncoding	Benign
2	151607503	C	T	C151607503T	NEB	NM_001271208.2(NEB):c.12639+1G>A	noncoding	Pathogenic
2	151608550	C	A	C151608550A	NEB	NM_001271208.2(NEB):c.12457G>T:p.Glu4153Ter	coding	Pathogenic
2	151608574	C	A	C151608574A	NEB	NM_001271208.2(NEB):c.12433G>T:p.Glu4145Ter	coding	Pathogenic
2	151609992	C	T	C151609992T	NEB	NM_001271208.2(NEB):c.12147G>A:p.Lys4049=	coding	Benign/Likely_benign
2	151610487	C	T	C151610487T	NEB	NM_001271208.2(NEB):c.12018+29G>A	noncoding	Benign
2	151610515	C	T	C151610515T	NEB	NM_001271208.2(NEB):c.12018+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151610867	C	T	C151610867T	NEB	NM_001271208.2(NEB):c.11806-1G>A	coding	Pathogenic/Likely_pathogenic
2	151612222	A	G	A151612222G	NEB	NM_001271208.2(NEB):c.11769T>C:p.Ile3923=	coding	Benign
2	151612262	T	C	T151612262C	NEB	NM_001271208.2(NEB):c.11729A>G:p.Asp3910Gly	coding	Benign/Likely_benign
2	151612364	C	T	C151612364T	NEB	NM_001271208.2(NEB):c.11627G>A:p.Trp3876Ter	coding	Pathogenic
2	151614344	C	A	C151614344A	NEB	NM_001271208.2(NEB):c.11533G>T:p.Glu3845Ter	coding	Pathogenic
2	151617364	A	T	A151617364T	NEB	NM_001271208.2(NEB):c.11181T>A:p.Asp3727Glu	coding	Benign
2	151617381	G	A	G151617381A	NEB	NM_001271208.2(NEB):c.11164C>T:p.Arg3722Ter	coding	Pathogenic
2	151617397	C	G	C151617397G	NEB	NM_001271208.2(NEB):c.11148G>C:p.Met3716Ile	coding	Benign
2	151617472	C	A	C151617472A	NEB	NM_001271208.2(NEB):c.11077-4G>T	noncoding	Benign/Likely_benign
2	151617487	A	G	A151617487G	NEB	NM_001271208.2(NEB):c.11077-19T>C	noncoding	Benign
2	151618347	C	T	C151618347T	NEB	NM_001271208.2(NEB):c.11004G>A:p.Thr3668=	coding	Benign
2	151618452	C	T	C151618452T	NEB	NM_001271208.2(NEB):c.10899G>A:p.Trp3633Ter	coding	Pathogenic
2	151619424	T	G	T151619424G	NEB	NM_001271208.2(NEB):c.10872+27A>C	noncoding	Benign
2	151619450	C	A	C151619450A	NEB	NM_001271208.2(NEB):c.10872+1G>T	noncoding	Pathogenic
2	151619450	C	T	C151619450T	NEB	NM_001164508.2(NEB):c.10872+1G>A	noncoding	Pathogenic
2	151619514	C	G	C151619514G	NEB	NM_001271208.2(NEB):c.10809G>C:p.Trp3603Cys	coding	Benign
2	151619616	C	T	C151619616T	NEB	NM_001271208.2(NEB):c.10707G>A:p.Lys3569=	coding	Benign
2	151619711	G	A	G151619711A	NEB	NM_001271208.2(NEB):c.10612C>T:p.Arg3538Ter	coding	Pathogenic/Likely_pathogenic
2	151621016	C	T	C151621016T	NEB	NM_001271208.2(NEB):c.10463G>A:p.Arg3488His	coding	Benign
2	151625525	T	C	T151625525C	NEB	NM_001271208.2(NEB):c.10452+9A>G	noncoding	Benign
2	151626996	G	A	G151626996A	NEB	NM_001271208.2(NEB):c.10347+6C>T	noncoding	Benign
2	151627005	G	A	G151627005A	NEB	NM_001271208.2(NEB):c.10344C>T:p.Asn3448=	coding	Benign
2	151627011	A	G	A151627011G	NEB	NM_001271208.2(NEB):c.10338T>C:p.Asn3446=	coding	Benign
2	151627080	C	T	C151627080T	NEB	NM_001271208.2(NEB):c.10269G>A:p.Pro3423=	coding	Benign/Likely_benign
2	151627712	A	C	A151627712C	NEB	NM_001271208.2(NEB):c.9954T>G:p.Tyr3318Ter	coding	Pathogenic
2	151629595	G	A	G151629595A	NEB	NM_001271208.2(NEB):c.9775C>T:p.Arg3259Ter	coding	Pathogenic
2	151630708	C	T	C151630708T	NEB	NM_001271208.2(NEB):c.9723+7G>A	noncoding	Benign/Likely_benign
2	151630821	T	C	T151630821C	NEB	NM_001271208.2(NEB):c.9619-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	151631294	A	T	A151631294T	NEB	NM_001271208.2(NEB):c.9467T>A:p.Ile3156Asn	coding	Benign/Likely_benign
2	151633705	A	G	A151633705G	NEB	NM_001271208.2(NEB):c.9363T>C:p.Pro3121=	coding	Benign
2	151633714	T	C	T151633714C	NEB	NM_001271208.2(NEB):c.9354A>G:p.Thr3118=	coding	Benign/Likely_benign
2	151633753	G	T	G151633753T	NEB	NM_001271208.2(NEB):c.9315C>A:p.Val3105=	coding	Benign/Likely_benign
2	151633944	A	G	A151633944G	NEB	NM_001271208.2(NEB):c.9124T>C:p.Cys3042Arg	coding	Benign
2	151636257	C	T	C151636257T	NEB	NM_001271208.2(NEB):c.9072G>A:p.Ala3024=	coding	Benign/Likely_benign
2	151636277	C	T	C151636277T	NEB	NM_001271208.2(NEB):c.9052G>A:p.Asp3018Asn	coding	Benign
2	151636283	G	A	G151636283A	NEB	NM_001271208.2(NEB):c.9046C>T:p.Arg3016Ter	coding	Pathogenic
2	151636348	A	G	A151636348G	NEB	NM_001271208.2(NEB):c.8995-14T>C	noncoding	Benign
2	151640012	A	G	A151640012G	NEB	NM_001271208.2(NEB):c.8734T>C:p.Ser2912Pro	coding	Benign
2	151640394	G	A	G151640394A	NEB	NM_001271208.2(NEB):c.8646C>T:p.Asp2882=	coding	Benign
2	151640397	G	A	G151640397A	NEB	NM_001271208.2(NEB):c.8643C>T:p.Ser2881=	coding	Benign/Likely_benign
2	151640448	A	G	A151640448G	NEB	NM_001271208.2(NEB):c.8592T>C:p.Asp2864=	coding	Benign
2	151640574	G	A	G151640574A	NEB	NM_001271208.2(NEB):c.8466C>T:p.His2822=	coding	Benign
2	151642612	T	C	T151642612C	NEB	NM_001271208.2(NEB):c.8335A>G:p.Ile2779Val	coding	Benign/Likely_benign
2	151642629	C	T	C151642629T	NEB	NM_001271208.2(NEB):c.8318G>A:p.Arg2773Gln	coding	Benign
2	151642764	C	T	C151642764T	NEB	NM_001271208.2(NEB):c.8265+1G>A	noncoding	Pathogenic
2	151642841	T	C	T151642841C	NEB	NM_001271208.2(NEB):c.8189A>G:p.Asp2730Gly	coding	Benign
2	151643344	T	A	T151643344A	NEB	NM_001271208.2(NEB):c.7966A>T:p.Lys2656Ter	coding	Pathogenic
2	151643817	C	T	C151643817T	NEB	NM_001164508.2(NEB):c.7956+1G>A	noncoding	Pathogenic
2	151643882	C	T	C151643882T	NEB	NM_001271208.2(NEB):c.7892G>A:p.Trp2631Ter	coding	Pathogenic
2	151643935	C	G	C151643935G	NEB	NM_001271208.2(NEB):c.7839G>C:p.Lys2613Asn	coding	Benign
2	151646152	G	T	G151646152T	NEB	NM_001271208.2(NEB):c.7514C>A:p.Ala2505Glu	coding	Benign/Likely_benign
2	151650297	C	T	C151650297T	NEB	NM_001271208.2(NEB):c.7310G>A:p.Arg2437Gln	coding	Benign
2	151650354	C	T	C151650354T	NEB	NM_001271208.2(NEB):c.7253G>A:p.Trp2418Ter	coding	Pathogenic
2	151655260	A	G	A151655260G	NEB	NM_001271208.2(NEB):c.6807+10T>C	noncoding	Benign
2	151655264	A	C	A151655264C	NEB	NM_001271208.2(NEB):c.6807+6T>G	noncoding	Benign
2	151655360	A	C	A151655360C	NEB	NM_001271208.2(NEB):c.6717T>G:p.Ile2239Met	coding	Benign
2	151655904	G	C	G151655904C	NEB	NM_001271208.2(NEB):c.6615C>G:p.Arg2205=	coding	Benign/Likely_benign
2	151655977	C	T	C151655977T	NEB	NM_001271208.2(NEB):c.6542G>A:p.Trp2181Ter	coding	Pathogenic
2	151656263	G	A	G151656263A	NEB	NM_001271208.2(NEB):c.6385C>T:p.Gln2129Ter	coding	Pathogenic
2	151656466	T	C	T151656466C	NEB	NM_001271208.2(NEB):c.6184-2A>G	noncoding	Pathogenic
2	151656478	A	T	A151656478T	NEB	NM_001271208.2(NEB):c.6184-14T>A	noncoding	Benign
2	151658000	T	C	T151658000C	NEB	NM_001271208.2(NEB):c.6166A>G:p.Arg2056Gly	coding	Benign/Likely_benign
2	151658007	C	T	C151658007T	NEB	NM_001271208.2(NEB):c.6159G>A:p.Lys2053=	coding	Benign/Likely_benign
2	151659071	C	T	C151659071T	NEB	NM_001271208.2(NEB):c.6069G>A:p.Met2023Ile	coding	Benign/Likely_benign
2	151659169	G	A	G151659169A	NEB	NM_001271208.2(NEB):c.5971C>T:p.His1991Tyr	coding	Benign
2	151662137	C	T	C151662137T	NEB	NM_001271208.2(NEB):c.5968G>A:p.Glu1990Lys	coding	Benign/Likely_benign
2	151662303	G	A	G151662303A	NEB	NM_001271208.2(NEB):c.5802C>T:p.Gly1934=	coding	Benign/Likely_benign
2	151662333	G	A	G151662333A	NEB	NM_001271208.2(NEB):c.5772C>T:p.Tyr1924=	coding	Benign
2	151663513	A	G	A151663513G	NEB	NM_001271208.2(NEB):c.5763+35T>C	noncoding	Benign
2	151663544	G	A	G151663544A	NEB	NM_001271208.2(NEB):c.5763+4C>T	noncoding	Benign
2	151663593	G	A	G151663593A	NEB	NM_001271208.2(NEB):c.5718C>T:p.Ala1906=	coding	Benign/Likely_benign
2	151663737	G	C	G151663737C	NEB	NM_001271208.2(NEB):c.5574C>G:p.Tyr1858Ter	coding	Pathogenic
2	151663744	C	T	C151663744T	NEB	NM_001271208.2(NEB):c.5567G>A:p.Arg1856Gln	coding	Benign/Likely_benign
2	151664582	C	T	C151664582T	NEB	NM_001271208.2(NEB):c.5370G>A:p.Glu1790=	coding	Benign
2	151664588	C	T	C151664588T	NEB	NM_001271208.2(NEB):c.5364G>A:p.Trp1788Ter	coding	Pathogenic
2	151665469	A	G	A151665469G	NEB	NM_001271208.2(NEB):c.5102T>C:p.Val1701Ala	coding	Benign
2	151666042	T	C	T151666042C	NEB	NM_001271208.2(NEB):c.5031+48A>G	noncoding	Benign
2	151666141	G	A	G151666141A	NEB	NM_001271208.2(NEB):c.4980C>T:p.Pro1660=	coding	Benign/Likely_benign
2	151671058	C	T	C151671058T	NEB	NM_001271208.2(NEB):c.4471G>A:p.Val1491Met	coding	Benign
2	151671094	C	T	C151671094T	NEB	NM_001271208.2(NEB):c.4435G>A:p.Val1479Ile	coding	Benign
2	151671112	G	A	G151671112A	NEB	NM_001271208.2(NEB):c.4417C>T:p.Arg1473Ter	coding	Pathogenic
2	151671122	C	G	C151671122G	NEB	NM_001271208.2(NEB):c.4407G>C:p.Glu1469Asp	coding	Benign
2	151674466	T	A	T151674466A	NEB	NM_001271208.2(NEB):c.3987+11A>T	noncoding	Benign
2	151674476	C	T	C151674476T	NEB	NM_001271208.2(NEB):c.3987+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151674563	A	G	A151674563G	NEB	NM_001271208.2(NEB):c.3901T>C:p.Tyr1301His	coding	Benign
2	151674586	T	C	T151674586C	NEB	NM_001271208.2(NEB):c.3880-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	151675267	C	A	C151675267A	NEB	NM_001271208.2(NEB):c.3879+20G>T	noncoding	Benign
2	151675285	A	G	A151675285G	NEB	NM_001271208.2(NEB):c.3879+2T>C	noncoding	Pathogenic
2	151675286	C	T	C151675286T	NEB	NM_001271208.2(NEB):c.3879+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151675308	G	T	G151675308T	NEB	NM_001271208.2(NEB):c.3858C>A:p.Cys1286Ter	coding	Pathogenic/Likely_pathogenic
2	151675340	G	T	G151675340T	NEB	NM_001271208.2(NEB):c.3826C>A:p.Pro1276Thr	coding	Benign/Likely_benign
2	151675365	A	G	A151675365G	NEB	NM_001271208.2(NEB):c.3801T>C:p.Asp1267=	coding	Benign/Likely_benign
2	151675397	A	G	A151675397G	NEB	NM_001271208.2(NEB):c.3775-6T>C	noncoding	Benign
2	151677564	C	T	C151677564T	NEB	NM_001271208.2(NEB):c.3774+1G>A	noncoding	Pathogenic
2	151677700	G	A	G151677700A	NEB	NM_001271208.2(NEB):c.3639C>T:p.Val1213=	coding	Benign/Likely_benign
2	151677703	G	A	G151677703A	NEB	NM_001271208.2(NEB):c.3636C>T:p.Asp1212=	coding	Benign/Likely_benign
2	151677875	C	T	C151677875T	NEB	NM_001271208.2(NEB):c.3567+1G>A	noncoding	Pathogenic
2	151678031	T	C	T151678031C	NEB	NM_001271208.2(NEB):c.3412A>G:p.Asn1138Asp	coding	Benign
2	151678095	G	A	G151678095A	NEB	NM_001271208.2(NEB):c.3348C>T:p.Asn1116=	coding	Benign
2	151679720	C	A	C151679720A	NEB	NM_001271208.2(NEB):c.3255+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	151679720	C	T	C151679720T	NEB	NM_001271208.2(NEB):c.3255+1G>A	noncoding	Pathogenic
2	151679728	G	A	G151679728A	NEB	NM_001271208.2(NEB):c.3248C>T:p.Ala1083Val	coding	Benign
2	151679785	T	C	T151679785C	NEB	NM_001271208.2(NEB):c.3191A>G:p.Tyr1064Cys	coding	Benign/Likely_benign
2	151679913	C	T	C151679913T	NEB	NM_001271208.2(NEB):c.3147+5G>A	noncoding	Benign
2	151679984	T	A	T151679984A	NEB	NM_001271208.2(NEB):c.3081A>T:p.Lys1027Asn	coding	Benign
2	151680837	C	T	C151680837T	NEB	NM_001271208.2(NEB):c.2944-9G>A	noncoding	Benign
2	151682661	C	T	C151682661T	NEB	NM_001271208.2(NEB):c.2943+1G>A	noncoding	Pathogenic
2	151682685	G	A	G151682685A	NEB	NM_001271208.2(NEB):c.2920C>T:p.Arg974Ter	coding	Pathogenic
2	151684781	G	A	G151684781A	NEB	NM_001271208.2(NEB):c.2832C>T:p.Ser944=	coding	Benign/Likely_benign
2	151684966	G	A	G151684966A	NEB	NM_001271208.2(NEB):c.2647C>T:p.Arg883Ter	coding	Pathogenic
2	151684973	G	A	G151684973A	NEB	NM_001271208.2(NEB):c.2640C>T:p.Arg880=	coding	Benign/Likely_benign
2	151687452	C	A	C151687452A	NEB	NM_001271208.2(NEB):c.2604G>T:p.Leu868=	coding	Benign/Likely_benign
2	151687453	A	G	A151687453G	NEB	NM_001271208.2(NEB):c.2603T>C:p.Leu868Pro	coding	Benign
2	151687547	C	A	C151687547A	NEB	NM_001271208.2(NEB):c.2524-15G>T	noncoding	Benign/Likely_benign
2	151688364	C	T	C151688364T	NEB	NM_001271208.2(NEB):c.2343G>A:p.Lys781=	coding	Benign/Likely_benign
2	151688389	T	C	T151688389C	NEB	NM_001271208.2(NEB):c.2318A>G:p.Tyr773Cys	coding	Benign
2	151691875	G	A	G151691875A	NEB	NM_001271208.2(NEB):c.2200C>T:p.Gln734Ter	coding	Pathogenic
2	151692278	G	A	G151692278A	NEB	NM_001271208.2(NEB):c.1981C>T:p.Leu661=	coding	Benign/Likely_benign
2	151694363	T	C	T151694363C	NEB	NM_001271208.2(NEB):c.1856A>G:p.Lys619Arg	coding	Benign/Likely_benign
2	151694380	G	A	G151694380A	NEB	NM_001271208.2(NEB):c.1839C>T:p.Ser613=	coding	Benign
2	151694638	A	C	A151694638C	NEB	NM_001271208.2(NEB):c.1675-9T>G	noncoding	Benign
2	151695548	A	C	A151695548C	NEB	NM_001271208.2(NEB):c.1674+30T>G	noncoding	Benign
2	151695576	A	G	A151695576G	NEB	NM_001271208.2(NEB):c.1674+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	151695577	C	T	C151695577T	NEB	NM_001271208.2(NEB):c.1674+1G>A	noncoding	Pathogenic
2	151695684	T	C	T151695684C	NEB	NM_001271208.2(NEB):c.1570-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	151696648	G	A	G151696648A	NEB	NM_001271208.2(NEB):c.1558C>T:p.Gln520Ter	coding	Pathogenic
2	151696736	C	T	C151696736T	NEB	NM_001271208.2(NEB):c.1471-1G>A	coding	Pathogenic
2	151697205	G	A	G151697205A	NEB	NM_001271208.2(NEB):c.1413C>T:p.Phe471=	coding	Benign/Likely_benign
2	151697640	G	C	G151697640C	NEB	NM_001271208.2(NEB):c.1161C>G:p.Tyr387Ter	coding	Pathogenic/Likely_pathogenic
2	151706832	T	C	T151706832C	NEB	NM_001271208.2(NEB):c.1152+49A>G	noncoding	Benign
2	151706880	C	A	C151706880A	NEB	NM_001271208.2(NEB):c.1152+1G>T	noncoding	Pathogenic
2	151706880	C	G	C151706880G	NEB	NM_001271208.2(NEB):c.1152+1G>C	noncoding	Pathogenic
2	151706880	C	T	C151706880T	NEB	NM_001271208.2(NEB):c.1152+1G>A	noncoding	Pathogenic
2	151709754	G	A	G151709754A	NEB	NM_001271208.2(NEB):c.937C>T:p.Gln313Ter	coding	Pathogenic
2	151710447	T	C	T151710447C	NEB	NM_001271208.2(NEB):c.914A>G:p.Asp305Gly	coding	Benign/Likely_benign
2	151710498	T	C	T151710498C	NEB	NM_001271208.2(NEB):c.863A>G:p.Lys288Arg	coding	Benign
2	151717467	A	G	A151717467G	NEB	NM_001271208.2(NEB):c.771T>C:p.Ala257=	coding	Benign
2	151723424	C	T	C151723424T	NEB	NM_001271208.2(NEB):c.675G>A:p.Pro225=	coding	Benign/Likely_benign
2	151723466	C	T	C151723466T	NEB	NM_001271208.2(NEB):c.633G>A:p.Trp211Ter	coding	Pathogenic
2	151724245	G	A	G151724245A	NEB	NM_001271208.2(NEB):c.612+15C>T	noncoding	Benign/Likely_benign
2	151724252	A	G	A151724252G	NEB	NM_001271208.2(NEB):c.612+8T>C	noncoding	Benign
2	151724292	G	A	G151724292A	NEB	NM_001271208.2(NEB):c.580C>T:p.Gln194Ter	coding	Pathogenic
2	151724871	G	A	G151724871A	NEB	NM_001271208.2(NEB):c.493C>T:p.Gln165Ter	coding	Pathogenic
2	151724895	T	C	T151724895C	NEB	NM_001271208.2(NEB):c.469A>G:p.Ile157Val	coding	Benign
2	151724952	G	A	G151724952A	NEB	NM_001271208.2(NEB):c.412C>T:p.Arg138Ter	coding	Pathogenic/Likely_pathogenic
2	151727689	A	G	A151727689G	NEB	NM_001271208.2(NEB):c.294+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	151727790	C	T	C151727790T	NEB	NM_001271208.2(NEB):c.195G>A:p.Pro65=	coding	Benign/Likely_benign
2	151729614	C	T	C151729614T	NEB	NM_001271208.2(NEB):c.78+1G>A	noncoding	Pathogenic
2	151729657	C	T	C151729657T	NEB	NM_001271208.2(NEB):c.37-1G>A	coding	Pathogenic/Likely_pathogenic
2	151832979	C	A	C151832979A	CACNB4	NM_000726.4(CACNB4):c.*6140G>T	noncoding	Benign/Likely_benign
2	151833264	T	G	T151833264G	CACNB4	NM_000726.4(CACNB4):c.*5855A>C	noncoding	Benign/Likely_benign
2	151833497	G	A	G151833497A	CACNB4	NM_000726.4(CACNB4):c.*5622C>T	noncoding	Benign/Likely_benign
2	151833557	T	C	T151833557C	CACNB4	NM_000726.4(CACNB4):c.*5562A>G	noncoding	Benign/Likely_benign
2	151833734	G	A	G151833734A	CACNB4	NM_000726.4(CACNB4):c.*5385C>T	noncoding	Benign
2	151833747	A	G	A151833747G	CACNB4	NM_000726.4(CACNB4):c.*5372T>C	noncoding	Benign/Likely_benign
2	151834090	A	G	A151834090G	CACNB4	NM_000726.4(CACNB4):c.*5029T>C	noncoding	Benign
2	151834143	A	G	A151834143G	CACNB4	NM_000726.4(CACNB4):c.*4976T>C	noncoding	Benign/Likely_benign
2	151834150	C	T	C151834150T	CACNB4	NM_000726.4(CACNB4):c.*4969G>A	noncoding	Benign/Likely_benign
2	151834346	T	C	T151834346C	CACNB4	NM_000726.4(CACNB4):c.*4773A>G	noncoding	Benign/Likely_benign
2	151834348	C	T	C151834348T	CACNB4	NM_000726.4(CACNB4):c.*4771G>A	noncoding	Benign/Likely_benign
2	151834549	A	G	A151834549G	CACNB4	NM_000726.4(CACNB4):c.*4570T>C	noncoding	Benign/Likely_benign
2	151834980	T	G	T151834980G	CACNB4	NM_000726.5(CACNB4):c.*4139A>C	noncoding	Benign
2	151835315	C	G	C151835315G	CACNB4	NM_000726.4(CACNB4):c.*3804G>C	noncoding	Benign
2	151835962	A	T	A151835962T	CACNB4	NM_000726.4(CACNB4):c.*3157T>A	noncoding	Benign
2	151836003	T	C	T151836003C	CACNB4	NM_000726.5(CACNB4):c.*3116A>G	noncoding	Benign
2	151836234	A	G	A151836234G	CACNB4	NM_000726.4(CACNB4):c.*2885T>C	noncoding	Benign/Likely_benign
2	151836282	T	C	T151836282C	CACNB4	NM_000726.4(CACNB4):c.*2837A>G	noncoding	Benign/Likely_benign
2	151836341	T	G	T151836341G	CACNB4	NM_000726.4(CACNB4):c.*2778A>C	noncoding	Benign/Likely_benign
2	151836390	C	T	C151836390T	CACNB4	NM_000726.4(CACNB4):c.*2729G>A	noncoding	Benign/Likely_benign
2	151836424	C	A	C151836424A	CACNB4	NM_000726.4(CACNB4):c.*2695G>T	noncoding	Benign/Likely_benign
2	151836436	A	G	A151836436G	CACNB4	NM_000726.5(CACNB4):c.*2683T>C	noncoding	Benign
2	151836728	A	C	A151836728C	CACNB4	NM_000726.4(CACNB4):c.*2391T>G	noncoding	Benign/Likely_benign
2	151836909	T	C	T151836909C	CACNB4	NM_000726.4(CACNB4):c.*2210A>G	noncoding	Benign/Likely_benign
2	151836956	C	T	C151836956T	CACNB4	NM_000726.4(CACNB4):c.*2163G>A	noncoding	Benign/Likely_benign
2	151837177	A	G	A151837177G	CACNB4	NM_000726.4(CACNB4):c.*1942T>C	noncoding	Benign/Likely_benign
2	151837210	G	A	G151837210A	CACNB4	NM_000726.4(CACNB4):c.*1909C>T	noncoding	Benign/Likely_benign
2	151837305	C	T	C151837305T	CACNB4	NM_000726.4(CACNB4):c.*1814G>A	noncoding	Benign/Likely_benign
2	151837463	A	G	A151837463G	CACNB4	NM_000726.4(CACNB4):c.*1656T>C	noncoding	Benign/Likely_benign
2	151837835	A	C	A151837835C	CACNB4	NM_000726.4(CACNB4):c.*1284T>G	noncoding	Benign/Likely_benign
2	151837933	C	A	C151837933A	CACNB4	NM_000726.4(CACNB4):c.*1186G>T	noncoding	Benign
2	151837934	A	G	A151837934G	CACNB4	NM_000726.4(CACNB4):c.*1185T>C	noncoding	Benign
2	151838026	A	G	A151838026G	CACNB4	NM_000726.4(CACNB4):c.*1093T>C	noncoding	Benign/Likely_benign
2	151838110	G	A	G151838110A	CACNB4	NM_000726.4(CACNB4):c.*1009C>T	noncoding	Benign/Likely_benign
2	151838229	C	G	C151838229G	CACNB4	NM_000726.4(CACNB4):c.*890G>C	noncoding	Benign
2	151838254	C	T	C151838254T	CACNB4	NM_000726.4(CACNB4):c.*865G>A	noncoding	Benign/Likely_benign
2	151838591	T	A	T151838591A	CACNB4	NM_000726.4(CACNB4):c.*528A>T	noncoding	Benign/Likely_benign
2	151838676	T	C	T151838676C	CACNB4	NM_000726.4(CACNB4):c.*443A>G	noncoding	Benign/Likely_benign
2	151838677	C	T	C151838677T	CACNB4	NM_000726.4(CACNB4):c.*442G>A	noncoding	Benign
2	151838695	T	G	T151838695G	CACNB4	NM_000726.5(CACNB4):c.*424A>C	noncoding	Benign
2	151839115	A	G	A151839115G	CACNB4	NM_000726.4(CACNB4):c.*4T>C	noncoding	Benign/Likely_benign
2	151839269	C	T	C151839269T	CACNB4	NM_000726.4(CACNB4):c.1413G>A:p.Arg471=	coding	Benign/Likely_benign
2	151839382	A	G	A151839382G	CACNB4	NM_000726.4(CACNB4):c.1303-3T>C	noncoding	Benign/Likely_benign
2	151841966	C	T	C151841966T	CACNB4	NM_000726.4(CACNB4):c.1239G>A:p.Leu413=	coding	Benign
2	151842014	C	A	C151842014A	CACNB4	NM_000726.4(CACNB4):c.1191G>T:p.Ala397=	coding	Benign
2	151842014	C	T	C151842014T	CACNB4	NM_000726.4(CACNB4):c.1191G>A:p.Ala397=	coding	Benign/Likely_benign
2	151853430	A	G	A151853430G	CACNB4	NM_000726.4(CACNB4):c.1116+18T>C	noncoding	Benign
2	151853531	A	G	A151853531G	CACNB4	NM_000726.4(CACNB4):c.1033T>C:p.Leu345=	coding	Benign/Likely_benign
2	151860787	A	G	A151860787G	CACNB4	NM_000726.4(CACNB4):c.792T>C:p.Ser264=	coding	Benign
2	151860808	C	T	C151860808T	CACNB4	NM_000726.4(CACNB4):c.771G>A:p.Thr257=	coding	Benign/Likely_benign
2	151860817	A	T	A151860817T	CACNB4	NM_000726.4(CACNB4):c.762T>A:p.Ile254=	coding	Benign
2	151870575	T	C	T151870575C	CACNB4	NM_000726.4(CACNB4):c.655A>G:p.Met219Val	coding	Benign
2	151870876	C	T	C151870876T	CACNB4	NM_000726.4(CACNB4):c.599-15G>A	noncoding	Benign/Likely_benign
2	151870877	G	A	G151870877A	CACNB4	NM_000726.4(CACNB4):c.599-16C>T	noncoding	Benign
2	151876417	G	A	G151876417A	CACNB4	NM_000726.4(CACNB4):c.521+9C>T	noncoding	Benign/Likely_benign
2	151880866	G	A	G151880866A	CACNB4	NM_000726.4(CACNB4):c.324C>T:p.Asp108=	coding	Benign
2	151880938	T	C	T151880938C	CACNB4	NM_000726.4(CACNB4):c.268-16A>G	noncoding	Benign
2	151883296	T	A	T151883296A	CACNB4	NM_000726.4(CACNB4):c.222A>T:p.Arg74=	coding	Benign/Likely_benign
2	152098958	G	T	G152098958T	CACNB4	NM_000726.4(CACNB4):c.54C>A:p.Pro18=	coding	Benign/Likely_benign
2	152098967	C	T	C152098967T	CACNB4	NM_000726.4(CACNB4):c.45G>A:p.Pro15=	coding	Benign/Likely_benign
2	152099036	C	A	C152099036A	CACNB4	NM_000726.4(CACNB4):c.-25G>T	noncoding	Benign
2	152611598	A	G	A152611598G	FMNL2	NM_052905.4(FMNL2):c.1055A>G:p.Tyr352Cys	coding	Benign
2	152664205	T	C	T152664205C	PRPF40A	NM_017892.4(PRPF40A):c.1812A>G:p.Ser604=	coding	Benign
2	152718791	G	T	G152718791T	ARL6IP6	NM_152522.7(ARL6IP6):c.167G>T:p.Arg56Leu	coding	Benign
2	152720525	A	G	A152720525G	ARL6IP6	NM_152522.7(ARL6IP6):c.401-8A>G	noncoding	Benign
2	154855301	T	C	T154855301C	KCNJ3	NM_002239.4(KCNJ3):c.1494T>C:p.Asp498=	coding	Benign
2	156325392	G	T	G156325392T	NR4A2	NM_006186.4(NR4A2):c.*352C>A	noncoding	Benign
2	156325413	A	C	A156325413C	NR4A2	NM_006186.4(NR4A2):c.*331T>G	noncoding	Benign
2	156329455	G	T	G156329455T	NR4A2	NM_006186.4(NR4A2):c.732C>A:p.Leu244=	coding	Benign/Likely_benign
2	156329698	G	T	G156329698T	NR4A2	NM_006186.4(NR4A2):c.489C>A:p.Ile163=	coding	Benign
2	156329830	C	A	C156329830A	NR4A2	NM_006186.4(NR4A2):c.357G>T:p.Ser119=	coding	Benign
2	156579109	T	C	T156579109C	GPD2	NM_000408.5(GPD2):c.1904T>C:p.Phe635Ser	coding	Pathogenic
2	157325489	C	T	C157325489T	ERMN	NM_020711.3(ERMN):c.154G>A:p.Ala52Thr	coding	Benign
2	157544545	A	G	A157544545G	ACVR1C	NM_145259.3(ACVR1C):c.843T>C:p.Tyr281=	coding	Benign
2	157544593	T	C	T157544593C	ACVR1C	NM_145259.3(ACVR1C):c.795A>G:p.Gln265=	coding	Benign
2	157550337	T	G	T157550337G	ACVR1C	NM_145259.3(ACVR1C):c.600A>C:p.Ile200=	coding	Benign
2	157556189	T	G	T157556189G	ACVR1C	NM_145259.3(ACVR1C):c.448A>C:p.Asn150His	coding	Benign
2	157736740	T	A	T157736740A	ACVR1	NM_001111067.4(ACVR1):c.*791A>T	noncoding	Benign
2	157736769	T	C	T157736769C	ACVR1	NM_001111067.4(ACVR1):c.*762A>G	noncoding	Benign
2	157736845	A	G	A157736845G	ACVR1	NM_001111067.4(ACVR1):c.*686T>C	noncoding	Benign
2	157737173	C	T	C157737173T	ACVR1	NM_001111067.4(ACVR1):c.*358G>A	noncoding	Benign
2	157737348	C	T	C157737348T	ACVR1	NM_001111067.4(ACVR1):c.*183G>A	noncoding	Benign
2	157737379	C	T	C157737379T	ACVR1	NM_001111067.4(ACVR1):c.*152G>A	noncoding	Benign
2	157737393	C	T	C157737393T	ACVR1	NM_001111067.4(ACVR1):c.*138G>A	noncoding	Benign
2	157737484	G	A	G157737484A	ACVR1	NM_001111067.4(ACVR1):c.*47C>T	noncoding	Benign
2	157737486	C	A	C157737486A	ACVR1	NM_001111067.4(ACVR1):c.*45G>T	noncoding	Benign
2	157737548	A	G	A157737548G	ACVR1	NM_001111067.4(ACVR1):c.1513T>C:p.Leu505=	coding	Benign
2	157737555	G	A	G157737555A	ACVR1	NM_001111067.4(ACVR1):c.1506C>T:p.Leu502=	coding	Benign
2	157761013	G	A	G157761013A	ACVR1	NM_001111067.4(ACVR1):c.1131C>T:p.Gly377=	coding	Benign
2	157761020	C	G	C157761020G	ACVR1	NM_001111067.4(ACVR1):c.1124G>C:p.Arg375Pro	coding	Pathogenic
2	157761058	G	T	G157761058T	ACVR1	NM_001111067.4(ACVR1):c.1086C>A:p.Ser362=	coding	Benign
2	157761077	C	T	C157761077T	ACVR1	NM_001111067.4(ACVR1):c.1067G>A:p.Gly356Asp	coding	Pathogenic
2	157766004	C	T	C157766004T	ACVR1	NM_001111067.4(ACVR1):c.983G>A:p.Gly328Glu	coding	Pathogenic/Likely_pathogenic
2	157766005	C	A	C157766005A	ACVR1	NM_001111067.4(ACVR1):c.982G>T:p.Gly328Trp	coding	Pathogenic
2	157766005	C	T	C157766005T	ACVR1	NM_001111067.4(ACVR1):c.982G>A:p.Gly328Arg	coding	Pathogenic
2	157766117	C	T	C157766117T	ACVR1	NM_001111067.4(ACVR1):c.870G>A:p.Ser290=	coding	Benign
2	157770384	C	G	C157770384G	ACVR1	NM_001111067.4(ACVR1):c.774G>C:p.Arg258Ser	coding	Pathogenic
2	157770468	C	T	C157770468T	ACVR1	NM_001111067.4(ACVR1):c.690G>A:p.Glu230=	coding	Benign
2	157774081	G	A	G157774081A	ACVR1	NM_001111067.4(ACVR1):c.643+7C>T	noncoding	Benign
2	157774114	C	T	C157774114T	ACVR1	NM_001111067.4(ACVR1):c.617G>A:p.Arg206His	coding	Pathogenic
2	157774126	C	A	C157774126A	ACVR1	NM_001111067.4(ACVR1):c.605G>T:p.Arg202Ile	coding	Pathogenic
2	157774144	A	G	A157774144G	ACVR1	NM_001111067.4(ACVR1):c.587T>C:p.Leu196Pro	coding	Pathogenic
2	157778190	C	T	C157778190T	ACVR1	NM_001111067.4(ACVR1):c.484G>A:p.Val162Met	coding	Benign
2	157778224	T	C	T157778224C	ACVR1	NM_001111067.4(ACVR1):c.450A>G:p.Lys150=	coding	Benign
2	157780398	G	A	G157780398A	ACVR1	NM_001111067.4(ACVR1):c.270C>T:p.Ala90=	coding	Benign
2	157780527	G	C	G157780527C	ACVR1	NM_001111067.4(ACVR1):c.141C>G:p.His47Gln	coding	Benign/Likely_benign
2	157780569	G	A	G157780569A	ACVR1	NM_001111067.4(ACVR1):c.99C>T:p.Tyr33=	coding	Benign
2	157799450	G	C	G157799450C	ACVR1	NM_001111067.4(ACVR1):c.44C>G:p.Ala15Gly	coding	Benign
2	157818390	T	C	T157818390C	ACVR1	NM_001111067.4(ACVR1):c.-13A>G	noncoding	Benign
2	157818430	G	A	G157818430A	ACVR1	NM_001111067.4(ACVR1):c.-53C>T	noncoding	Benign
2	157818569	G	A	G157818569A	ACVR1	NM_001111067.4(ACVR1):c.-182-10C>T	noncoding	Benign
2	157874877	T	C	T157874877C	ACVR1	NM_001111067.4(ACVR1):c.-183+919A>G	noncoding	Benign
2	158115152	A	C	A158115152C	UPP2	NM_173355.4(UPP2):c.232A>C:p.Met78Leu	coding	Benign
2	158121416	A	C	A158121416C	UPP2	NM_173355.4(UPP2):c.462A>C:p.Ala154=	coding	Benign
2	158176586	C	T	C158176586T	CCDC148	NM_138803.4(CCDC148):c.1564G>A:p.Glu522Lys	coding	Benign
2	158250862	T	C	T158250862C	CCDC148	NM_138803.4(CCDC148):c.1161A>G:p.Glu387=	coding	Benign
2	158250873	G	A	G158250873A	CCDC148	NM_138803.4(CCDC148):c.1150C>T:p.Leu384=	coding	Benign
2	158309623	T	A	T158309623A	CCDC148	NM_138803.4(CCDC148):c.920A>T:p.Tyr307Phe	coding	Benign
2	158340336	T	C	T158340336C	CCDC148	NM_138803.4(CCDC148):c.392A>G:p.Gln131Arg	coding	Benign
2	158345242	T	G	T158345242G	CCDC148	NM_138803.4(CCDC148):c.224A>C:p.Gln75Pro	coding	Benign
2	158621122	G	T	G158621122T	PKP4	NM_003628.5(PKP4):c.412+1G>T	coding	Benign
2	158661414	C	T	C158661414T	PKP4	NM_003628.5(PKP4):c.2175C>T:p.Ile725=	coding	Benign
2	159097783	C	A	C159097783A	TANC1	NM_033394.3(TANC1):c.208C>A:p.Leu70Met	coding	Benign
2	159163390	C	T	C159163390T	TANC1	NM_033394.3(TANC1):c.790C>T:p.Arg264Cys	coding	Benign
2	159230129	G	T	G159230129T	TANC1	NM_033394.3(TANC1):c.4703G>T:p.Gly1568Val	coding	Benign
2	159348842	A	G	A159348842G	BAZ2B	NM_013450.4(BAZ2B):c.5138-9T>C	noncoding	Benign
2	159349108	T	A	T159349108A	BAZ2B	NM_013450.4(BAZ2B):c.5036A>T:p.Glu1679Val	coding	Pathogenic
2	159350063	C	T	C159350063T	BAZ2B	NM_013450.4(BAZ2B):c.4508G>A:p.Ser1503Asn	coding	Benign
2	159382787	A	G	A159382787G	BAZ2B	NM_013450.4(BAZ2B):c.3777T>C:p.His1259=	coding	Benign
2	159430931	C	T	C159430931T	BAZ2B	NM_013450.4(BAZ2B):c.2126G>A:p.Cys709Tyr	coding	Pathogenic
2	159430993	A	C	A159430993C	BAZ2B	NM_013450.4(BAZ2B):c.2064T>G:p.Gly688=	coding	Benign
2	159446850	G	A	G159446850A	BAZ2B	NM_013450.4(BAZ2B):c.628C>T:p.Arg210Ter	coding	Pathogenic
2	159854943	T	C	T159854943C	LY75	NM_002349.4(LY75):c.2384-4A>G	noncoding	Benign
2	159872571	A	G	A159872571G	LY75	NM_002349.4(LY75):c.1997T>C:p.Val666Ala	coding	Benign
2	159875633	G	A	G159875633A	LY75	NM_002349.4(LY75):c.1785C>T:p.Gly595=	coding	Benign
2	159878679	C	A	C159878679A	LY75	NM_002349.4(LY75):c.1558G>T:p.Asp520Tyr	coding	Benign
2	159878680	C	A	C159878680A	LY75	NM_002349.4(LY75):c.1557G>T:p.Glu519Asp	coding	Benign
2	159879264	C	T	C159879264T	LY75	NM_002349.4(LY75):c.1510G>A:p.Asp504Asn	coding	Benign
2	159881206	G	A	G159881206A	LY75	NM_002349.4(LY75):c.1281C>T:p.Asn427=	coding	Benign
2	159882292	G	A	G159882292A	LY75	NM_002349.4(LY75):c.1078C>T:p.Arg360Cys	coding	Benign
2	160101832	T	C	T160101832C	ITGB6	NM_000888.5(ITGB6):c.2271A>G:p.Gly757=	coding	Benign
2	160126416	G	A	G160126416A	ITGB6	NM_000888.5(ITGB6):c.1846C>T:p.Arg616Ter	coding	Pathogenic
2	160126522	C	T	C160126522T	ITGB6	NM_000888.5(ITGB6):c.1740G>A:p.Thr580=	coding	Benign
2	160137462	G	A	G160137462A	ITGB6	NM_000888.5(ITGB6):c.1632C>T:p.Cys544=	coding	Benign
2	160137686	C	T	C160137686T	ITGB6	NM_000888.5(ITGB6):c.1408G>A:p.Gly470Arg	coding	Benign
2	160137782	C	T	C160137782T	ITGB6	NM_000888.5(ITGB6):c.1312G>A:p.Val438Met	coding	Benign
2	160138119	G	A	G160138119A	ITGB6	NM_000888.5(ITGB6):c.1188C>T:p.Asn396=	coding	Benign
2	160169287	T	C	T160169287C	ITGB6	NM_000888.5(ITGB6):c.942A>G:p.Gln314=	coding	Benign
2	160172592	C	T	C160172592T	ITGB6	NM_000888.5(ITGB6):c.898G>A:p.Glu300Lys	coding	Pathogenic
2	160172665	A	T	A160172665T	ITGB6	NM_000888.5(ITGB6):c.825T>A:p.His275Gln	coding	Pathogenic
2	160174016	G	C	G160174016C	ITGB6	NM_000888.5(ITGB6):c.717C>G:p.Pro239=	coding	Benign
2	160174088	T	C	T160174088C	ITGB6	NM_000888.5(ITGB6):c.645A>G:p.Pro215=	coding	Benign
2	160195376	G	T	G160195376T	ITGB6	NM_000888.5(ITGB6):c.586C>A:p.Pro196Thr	coding	Pathogenic
2	160195535	C	T	C160195535T	ITGB6	NM_000888.5(ITGB6):c.427G>A:p.Ala143Thr	coding	Pathogenic
2	160196406	T	C	T160196406C	ITGB6	NM_000888.5(ITGB6):c.156A>G:p.Pro52=	coding	Benign
2	160200020	C	T	C160200020T	ITGB6	NM_000888.5(ITGB6):c.44G>A:p.Arg15Lys	coding	Benign
2	161223924	C	G	C161223924G	TANK	NM_001199135.3(TANK):c.337C>G:p.Gln113Glu	coding	Benign
2	161231044	T	C	T161231044C	TANK	NM_001199135.3(TANK):c.594T>C:p.Ala198=	coding	Benign
2	161231523	C	T	C161231523T	TANK	NM_001199135.3(TANK):c.1073C>T:p.Pro358Leu	coding	Benign
2	161231557	T	C	T161231557C	TANK	NM_001199135.3(TANK):c.1101+6T>C	noncoding	Benign
2	161367778	C	A	C161367778A	PSMD14	NM_005805.6(PSMD14):c.121-6C>A	noncoding	Benign
2	161416464	C	G	C161416464G	TBR1	NM_006593.4(TBR1):c.54C>G:p.Leu18=	coding	Benign
2	161417077	G	C	G161417077C	TBR1	NM_006593.4(TBR1):c.667G>C:p.Glu223Gln	coding	Pathogenic
2	161417796	G	T	G161417796T	TBR1	NM_006593.4(TBR1):c.813G>T:p.Trp271Cys	coding	Pathogenic
2	161419040	A	G	A161419040G	TBR1	NM_006593.4(TBR1):c.1118A>G:p.Gln373Arg	coding	Pathogenic/Likely_pathogenic
2	161420201	A	G	A161420201G	TBR1	NM_006593.4(TBR1):c.1134A>G:p.Thr378=	coding	Benign
2	161420232	A	G	A161420232G	TBR1	NM_006593.4(TBR1):c.1165A>G:p.Lys389Glu	coding	Pathogenic
2	161424237	G	A	G161424237A	TBR1	NM_006593.4(TBR1):c.*10G>A	noncoding	Benign
2	161839904	C	T	C161839904T	SLC4A10	NM_001178015.2(SLC4A10):c.393C>T:p.Asp131=	coding	Benign
2	161904136	C	A	C161904136A	SLC4A10	NM_001178015.2(SLC4A10):c.1575C>A:p.Ile525=	coding	Benign
2	161947688	C	T	C161947688T	SLC4A10	NM_001178015.2(SLC4A10):c.2226C>T:p.Thr742=	coding	Benign
2	161957159	C	T	C161957159T	SLC4A10	NM_001178015.2(SLC4A10):c.2712C>T:p.Leu904=	coding	Benign
2	161965134	C	T	C161965134T	SLC4A10	NM_001178015.2(SLC4A10):c.3120C>T:p.Pro1040=	coding	Benign
2	162008558	A	G	A162008558G	DPP4	NM_001935.4(DPP4):c.1987+4T>C	noncoding	Benign
2	162008614	G	A	G162008614A	DPP4	NM_001935.4(DPP4):c.1935C>T:p.Gly645=	coding	Benign
2	162009238	C	T	C162009238T	DPP4	NM_001935.4(DPP4):c.1887+3G>A	noncoding	Benign
2	162018839	C	G	C162018839G	DPP4	NM_001935.4(DPP4):c.1310G>C:p.Ser437Thr	coding	Benign
2	162073412	C	T	C162073412T	DPP4	NM_001935.4(DPP4):c.81G>A:p.Leu27=	coding	Benign
2	162073445	C	T	C162073445T	DPP4	NM_001935.4(DPP4):c.48G>A:p.Ala16=	coding	Benign
2	162144091	T	C	T162144091C	GCG	NM_002054.5(GCG):c.472A>G:p.Ile158Val	coding	Benign
2	162147348	C	T	C162147348T	GCG	NM_002054.5(GCG):c.254+5G>A	noncoding	Benign
2	162172868	T	C	T162172868C	FAP	NM_004460.5(FAP):c.2124A>G:p.Gln708=	coding	Benign
2	162174974	G	T	G162174974T	FAP	NM_004460.5(FAP):c.1870-8C>A	noncoding	Benign
2	162189181	A	G	A162189181G	FAP	NM_004460.5(FAP):c.1550-9T>C	noncoding	Benign
2	162198785	G	A	G162198785A	FAP	NM_004460.5(FAP):c.1374C>T:p.Tyr458=	coding	Benign
2	162218062	G	A	G162218062A	FAP	NM_004460.5(FAP):c.686C>T:p.Thr229Met	coding	Benign
2	162218114	G	A	G162218114A	FAP	NM_004460.5(FAP):c.634C>T:p.Leu212Phe	coding	Benign
2	162219085	T	G	T162219085G	FAP	NM_004460.5(FAP):c.585A>C:p.Gly195=	coding	Benign
2	162224526	A	G	A162224526G	FAP	NM_004460.5(FAP):c.300T>C:p.Ala100=	coding	Benign
2	162226627	G	T	G162226627T	FAP	NM_004460.5(FAP):c.92-6C>A	noncoding	Benign
2	162267332	G	A	G162267332A	IFIH1	NM_022168.4(IFIH1):c.2946C>T:p.Leu982=	coding	Benign
2	162267383	G	A	G162267383A	IFIH1	NM_022168.4(IFIH1):c.2899-4C>T	noncoding	Benign
2	162267511	T	C	T162267511C	IFIH1	NM_022168.4(IFIH1):c.2866A>G:p.Ile956Val	coding	Pathogenic
2	162267541	C	T	C162267541T	IFIH1	NM_022168.4(IFIH1):c.2836G>A:p.Ala946Thr	coding	Benign
2	162268086	C	T	C162268086T	IFIH1	NM_022168.4(IFIH1):c.2807+1G>A	noncoding	Benign
2	162268109	C	T	C162268109T	IFIH1	NM_022168.4(IFIH1):c.2785G>A:p.Val929Ile	coding	Benign
2	162268110	G	A	G162268110A	IFIH1	NM_022168.4(IFIH1):c.2784C>T:p.His928=	coding	Benign
2	162268127	T	C	T162268127C	IFIH1	NM_022168.4(IFIH1):c.2767A>G:p.Ile923Val	coding	Benign
2	162268212	C	T	C162268212T	IFIH1	NM_022168.4(IFIH1):c.2682G>A:p.Lys894=	coding	Benign
2	162272281	A	T	A162272281T	IFIH1	NM_022168.4(IFIH1):c.2561T>A:p.Met854Lys	coding	Pathogenic
2	162272298	A	C	A162272298C	IFIH1	NM_022168.4(IFIH1):c.2544T>G:p.Asp848Glu	coding	Pathogenic
2	162272314	T	C	T162272314C	IFIH1	NM_022168.4(IFIH1):c.2528A>G:p.His843Arg	coding	Benign
2	162272356	G	C	G162272356C	IFIH1	NM_022168.4(IFIH1):c.2486C>G:p.Thr829Ser	coding	Pathogenic
2	162272371	C	T	C162272371T	IFIH1	NM_022168.4(IFIH1):c.2471G>A:p.Arg824Lys	coding	Pathogenic
2	162272373	G	A	G162272373A	IFIH1	NM_022168.4(IFIH1):c.2469C>T:p.Ala823=	coding	Benign
2	162272377	C	T	C162272377T	IFIH1	NM_022168.4(IFIH1):c.2465G>A:p.Arg822Gln	coding	Pathogenic
2	162272394	A	T	A162272394T	IFIH1	NM_022168.4(IFIH1):c.2455-7T>A	noncoding	Benign
2	162273786	T	C	T162273786C	IFIH1	NM_022168.4(IFIH1):c.2454+9A>G	noncoding	Benign
2	162273789	A	G	A162273789G	IFIH1	NM_022168.4(IFIH1):c.2454+6T>C	noncoding	Benign
2	162273810	T	A	T162273810A	IFIH1	NM_022168.4(IFIH1):c.2439A>T:p.Glu813Asp	coding	Pathogenic
2	162273842	T	A	T162273842A	IFIH1	NM_022168.4(IFIH1):c.2407A>T:p.Ile803Phe	coding	Pathogenic
2	162273845	T	C	T162273845C	IFIH1	NM_022168.4(IFIH1):c.2404A>G:p.Asn802Asp	coding	Pathogenic
2	162273907	C	T	C162273907T	IFIH1	NM_022168.4(IFIH1):c.2342G>A:p.Gly781Glu	coding	Pathogenic
2	162273913	C	T	C162273913T	IFIH1	NM_022168.4(IFIH1):c.2336G>A:p.Arg779His	coding	Pathogenic/Likely_pathogenic
2	162273914	G	A	G162273914A	IFIH1	NM_022168.4(IFIH1):c.2335C>T:p.Arg779Cys	coding	Pathogenic
2	162273932	C	G	C162273932G	IFIH1	NM_022168.4(IFIH1):c.2317G>C:p.Glu773Gln	coding	Pathogenic
2	162276752	C	T	C162276752T	IFIH1	NM_022168.4(IFIH1):c.2239G>A:p.Val747Ile	coding	Benign
2	162276832	C	T	C162276832T	IFIH1	NM_022168.4(IFIH1):c.2159G>A:p.Arg720Gln	coding	Pathogenic
2	162276835	G	A	G162276835A	IFIH1	NM_022168.4(IFIH1):c.2156C>T:p.Ala719Val	coding	Pathogenic
2	162276876	T	G	T162276876G	IFIH1	NM_022168.4(IFIH1):c.2115A>C:p.Arg705Ser	coding	Benign
2	162277560	C	A	C162277560A	IFIH1	NM_022168.4(IFIH1):c.1899G>T:p.Glu633Asp	coding	Benign
2	162277593	C	T	C162277593T	IFIH1	NM_022168.4(IFIH1):c.1866G>A:p.Ala622=	coding	Benign
2	162278223	T	C	T162278223C	IFIH1	NM_022168.4(IFIH1):c.1747A>G:p.Ile583Val	coding	Pathogenic
2	162278232	G	A	G162278232A	IFIH1	NM_022168.4(IFIH1):c.1738C>T:p.Gln580Ter	coding	Pathogenic
2	162278247	T	C	T162278247C	IFIH1	NM_022168.4(IFIH1):c.1723A>G:p.Thr575Ala	coding	Benign
2	162281369	C	T	C162281369T	IFIH1	NM_022168.4(IFIH1):c.1483G>A:p.Gly495Arg	coding	Pathogenic
2	162281371	C	A	C162281371A	IFIH1	NM_022168.4(IFIH1):c.1481G>T:p.Gly494Val	coding	Benign
2	162281387	C	T	C162281387T	IFIH1	NM_022168.4(IFIH1):c.1465G>A:p.Ala489Thr	coding	Pathogenic
2	162281498	C	T	C162281498T	IFIH1	NM_022168.4(IFIH1):c.1354G>A:p.Ala452Thr	coding	Pathogenic
2	162281505	G	C	G162281505C	IFIH1	NM_022168.4(IFIH1):c.1347C>G:p.Asn449Lys	coding	Pathogenic
2	162281521	T	C	T162281521C	IFIH1	NM_022168.4(IFIH1):c.1331A>G:p.Glu444Gly	coding	Pathogenic
2	162281524	T	C	T162281524C	IFIH1	NM_022168.4(IFIH1):c.1328A>G:p.Asp443Gly	coding	Pathogenic
2	162282494	T	G	T162282494G	IFIH1	NM_022168.4(IFIH1):c.1178A>C:p.Asp393Ala	coding	Pathogenic
2	162282507	C	T	C162282507T	IFIH1	NM_022168.4(IFIH1):c.1165G>A:p.Gly389Arg	coding	Pathogenic
2	162282558	G	A	G162282558A	IFIH1	NM_022168.4(IFIH1):c.1114C>T:p.Leu372Phe	coding	Pathogenic
2	162288184	T	C	T162288184C	IFIH1	NM_022168.4(IFIH1):c.1046A>G:p.Lys349Arg	coding	Benign
2	162288221	T	C	T162288221C	IFIH1	NM_022168.4(IFIH1):c.1009A>G:p.Arg337Gly	coding	Pathogenic
2	162288238	G	A	G162288238A	IFIH1	NM_022168.4(IFIH1):c.992C>T:p.Thr331Ile	coding	Pathogenic
2	162288238	G	C	G162288238C	IFIH1	NM_022168.4(IFIH1):c.992C>G:p.Thr331Arg	coding	Pathogenic
2	162306825	G	A	G162306825A	IFIH1	NM_022168.4(IFIH1):c.653C>T:p.Pro218Leu	coding	Benign
2	162317881	G	A	G162317881A	IFIH1	NM_022168.4(IFIH1):c.427C>T:p.Leu143=	coding	Benign
2	162318050	G	C	G162318050C	IFIH1	NM_022168.4(IFIH1):c.258C>G:p.Thr86=	coding	Benign
2	162318131	A	G	A162318131G	IFIH1	NM_022168.4(IFIH1):c.177T>C:p.Val59=	coding	Benign
2	162318205	G	A	G162318205A	IFIH1	NM_022168.4(IFIH1):c.103C>T:p.Leu35=	coding	Benign
2	162394477	G	A	G162394477A	KCNH7	NM_033272.4(KCNH7):c.2622C>T:p.Leu874=	coding	Benign
2	162517926	G	A	G162517926A	KCNH7	NM_033272.4(KCNH7):c.696C>T:p.Ser232=	coding	Benign
2	164502282	G	A	G164502282A	GRB14	NM_004490.3(GRB14):c.1077C>T:p.Gly359=	coding	Benign
2	165090201	G	A	G165090201A	SCN3A	NM_006922.4(SCN3A):c.5952C>T:p.Asp1984=	coding	Benign/Likely_benign
2	165090294	G	A	G165090294A	SCN3A	NM_006922.4(SCN3A):c.5859C>T:p.Ser1953=	coding	Benign
2	165090483	A	G	A165090483G	SCN3A	NM_006922.4(SCN3A):c.5670T>C:p.Pro1890=	coding	Benign
2	165090495	G	A	G165090495A	SCN3A	NM_006922.4(SCN3A):c.5658C>T:p.Val1886=	coding	Benign
2	165090569	C	A	C165090569A	SCN3A	NM_006922.4(SCN3A):c.5584G>T:p.Gly1862Cys	coding	Benign
2	165090651	A	G	A165090651G	SCN3A	NM_006922.4(SCN3A):c.5502T>C:p.Leu1834=	coding	Benign
2	165090746	C	T	C165090746T	SCN3A	NM_006922.4(SCN3A):c.5407G>A:p.Asp1803Asn	coding	Benign
2	165090921	T	C	T165090921C	SCN3A	NM_006922.4(SCN3A):c.5232A>G:p.Pro1744=	coding	Benign
2	165090933	G	A	G165090933A	SCN3A	NM_006922.4(SCN3A):c.5220C>T:p.Asp1740=	coding	Benign
2	165091032	G	T	G165091032T	SCN3A	NM_006922.4(SCN3A):c.5121C>A:p.Thr1707=	coding	Benign
2	165091275	G	A	G165091275A	SCN3A	NM_006922.4(SCN3A):c.4878C>T:p.Ala1626=	coding	Benign
2	165092247	T	C	T165092247C	SCN3A	NM_006922.4(SCN3A):c.4807+7A>G	noncoding	Benign
2	165092297	G	C	G165092297C	SCN3A	NM_006922.4(SCN3A):c.4764C>G:p.Gly1588=	coding	Benign
2	165094434	A	G	A165094434G	SCN3A	NM_006922.4(SCN3A):c.4476T>C:p.Tyr1492=	coding	Benign
2	165097493	G	A	G165097493A	SCN3A	NM_006922.4(SCN3A):c.3998C>T:p.Pro1333Leu	coding	Pathogenic
2	165112891	G	A	G165112891A	SCN3A	NM_006922.4(SCN3A):c.3837C>T:p.Ile1279=	coding	Benign
2	165127774	C	T	C165127774T	SCN3A	NM_006922.4(SCN3A):c.3250G>A:p.Val1084Ile	coding	Benign/Likely_benign
2	165130238	A	G	A165130238G	SCN3A	NM_006922.4(SCN3A):c.2624T>C:p.Ile875Thr	coding	Pathogenic/Likely_pathogenic
2	165131262	T	G	T165131262G	SCN3A	NM_006922.4(SCN3A):c.2547A>C:p.Val849=	coding	Benign
2	165131366	C	T	C165131366T	SCN3A	NM_006922.4(SCN3A):c.2443G>A:p.Asp815Asn	coding	Pathogenic
2	165131426	T	C	T165131426C	SCN3A	NM_006922.4(SCN3A):c.2392-9A>G	noncoding	Benign
2	165137966	A	G	A165137966G	SCN3A	NM_006922.4(SCN3A):c.2304T>C:p.Ile768=	coding	Benign/Likely_benign
2	165138089	C	T	C165138089T	SCN3A	NM_006922.4(SCN3A):c.2181G>A:p.Pro727=	coding	Benign
2	165139510	C	T	C165139510T	SCN3A	NM_006922.4(SCN3A):c.2118G>A:p.Val706=	coding	Benign
2	165139597	T	A	T165139597A	SCN3A	NM_006922.4(SCN3A):c.2031A>T:p.Thr677=	coding	Benign
2	165146969	G	A	G165146969A	SCN3A	NM_006922.4(SCN3A):c.1441C>T:p.Leu481=	coding	Benign
2	165162340	G	A	G165162340A	SCN3A	NM_006922.4(SCN3A):c.999C>T:p.Asp333=	coding	Benign
2	165162783	A	G	A165162783G	SCN3A	NM_006922.4(SCN3A):c.740T>C:p.Leu247Pro	coding	Pathogenic
2	165164383	G	A	G165164383A	SCN3A	NM_006922.4(SCN3A):c.602+9C>T	noncoding	Benign
2	165164442	C	T	C165164442T	SCN3A	NM_006922.4(SCN3A):c.552G>A:p.Thr184=	coding	Benign
2	165176224	A	G	A165176224G	SCN3A	NM_006922.4(SCN3A):c.171T>C:p.Ala57=	coding	Benign
2	165295830	C	T	C165295830T	SCN2A	NM_001040142.2(SCN2A):c.7C>T:p.Gln3Ter	coding	Pathogenic
2	165295834	C	G	C165295834G	SCN2A	NM_001040142.2(SCN2A):c.11C>G:p.Ser4Ter	coding	Pathogenic
2	165295879	G	A	G165295879A	SCN2A	NM_001040142.2(SCN2A):c.56G>A:p.Arg19Lys	coding	Benign
2	165295893	G	A	G165295893A	SCN2A	NM_001040142.2(SCN2A):c.70G>A:p.Ala24Thr	coding	Benign/Likely_benign
2	165295905	C	T	C165295905T	SCN2A	NM_001040142.2(SCN2A):c.82C>T:p.Arg28Cys	coding	Benign/Likely_benign
2	165295990	T	A	T165295990A	SCN2A	NM_001040142.2(SCN2A):c.167T>A:p.Leu56Ter	coding	Pathogenic
2	165296000	A	C	A165296000C	SCN2A	NM_001040142.2(SCN2A):c.177A>C:p.Gly59=	coding	Benign
2	165296075	C	A	C165296075A	SCN2A	NM_001040142.2(SCN2A):c.252C>A:p.Tyr84Ter	coding	Pathogenic
2	165296141	G	A	G165296141A	SCN2A	NM_001040142.2(SCN2A):c.267+51G>A	noncoding	Benign
2	165296751	T	C	T165296751C	SCN2A	NM_001040142.2(SCN2A):c.268-266T>C	noncoding	Benign
2	165297053	C	T	C165297053T	SCN2A	NM_001040142.2(SCN2A):c.304C>T:p.Arg102Ter	coding	Pathogenic
2	165297137	T	C	T165297137C	SCN2A	NM_001040142.2(SCN2A):c.386+2T>C	noncoding	Pathogenic
2	165297152	C	T	C165297152T	SCN2A	NM_001040142.2(SCN2A):c.386+17C>T	noncoding	Benign
2	165307838	G	A	G165307838A	SCN2A	NM_001040142.2(SCN2A):c.387-10G>A	noncoding	Benign
2	165307846	A	G	A165307846G	SCN2A	NM_001040142.2(SCN2A):c.387-2A>G	noncoding	Pathogenic
2	165308377	G	A	G165308377A	SCN2A	NM_001040142.2(SCN2A):c.477-289G>A	noncoding	Benign
2	165308706	A	T	A165308706T	SCN2A	NM_001040142.2(SCN2A):c.517A>T:p.Lys173Ter	coding	Pathogenic
2	165308708	A	G	A165308708G	SCN2A	NM_001040142.2(SCN2A):c.519A>G:p.Lys173=	coding	Benign
2	165308762	G	T	G165308762T	SCN2A	NM_001040142.2(SCN2A):c.573G>T:p.Trp191Cys	coding	Pathogenic
2	165308795	G	A	G165308795A	SCN2A	NM_001040142.2(SCN2A):c.605+1G>A	coding	Pathogenic
2	165308795	G	T	G165308795T	SCN2A	NM_001040142.2(SCN2A):c.605+1G>T	coding	Pathogenic
2	165309193	A	G	A165309193G	SCN2A	NM_001040142.2(SCN2A):c.606-159A>G	coding	Pathogenic/Likely_pathogenic
2	165309393	T	G	T165309393G	SCN2A	NM_001040142.2(SCN2A):c.647T>G:p.Leu216Trp	coding	Pathogenic/Likely_pathogenic
2	165309404	A	G	A165309404G	SCN2A	NM_001040142.2(SCN2A):c.658A>G:p.Arg220Gly	coding	Pathogenic
2	165309414	G	A	G165309414A	SCN2A	NM_001040142.2(SCN2A):c.668G>A:p.Arg223Gln	coding	Pathogenic/Likely_pathogenic
2	165310162	C	T	C165310162T	SCN2A	NM_001040142.2(SCN2A):c.698-161C>T	noncoding	Benign
2	165310344	C	T	C165310344T	SCN2A	NM_001040142.2(SCN2A):c.719C>T:p.Ala240Val	coding	Pathogenic/Likely_pathogenic
2	165310379	A	G	A165310379G	SCN2A	NM_001040142.2(SCN2A):c.754A>G:p.Met252Val	coding	Pathogenic
2	165310406	G	A	G165310406A	SCN2A	NM_001040142.2(SCN2A):c.781G>A:p.Val261Met	coding	Pathogenic
2	165310406	G	T	G165310406T	SCN2A	NM_001040142.2(SCN2A):c.781G>T:p.Val261Leu	coding	Pathogenic
2	165310427	C	T	C165310427T	SCN2A	NM_001040142.2(SCN2A):c.802C>T:p.Gln268Ter	coding	Pathogenic
2	165310448	C	T	C165310448T	SCN2A	NM_001040142.2(SCN2A):c.823C>T:p.Arg275Ter	coding	Pathogenic
2	165310462	G	A	G165310462A	SCN2A	NM_001040142.2(SCN2A):c.837G>A:p.Leu279=	coding	Benign
2	165310468	G	A	G165310468A	SCN2A	NM_001040142.2(SCN2A):c.843G>A:p.Trp281Ter	coding	Pathogenic
2	165310504	T	G	T165310504G	SCN2A	NM_001040142.2(SCN2A):c.879T>G:p.Thr293=	coding	Benign/Likely_benign
2	165310585	T	C	T165310585C	SCN2A	NM_001040142.2(SCN2A):c.960T>C:p.Ile320=	coding	Benign/Likely_benign
2	165310656	T	A	T165310656A	SCN2A	NM_001040142.2(SCN2A):c.970+61T>A	noncoding	Benign
2	165312036	T	G	T165312036G	SCN2A	NM_001040142.2(SCN2A):c.982T>G:p.Phe328Val	coding	Benign/Likely_benign
2	165312081	G	C	G165312081C	SCN2A	NM_001040142.2(SCN2A):c.1027G>C:p.Asp343His	coding	Pathogenic
2	165312081	G	T	G165312081T	SCN2A	NM_001040142.2(SCN2A):c.1027G>T:p.Asp343Tyr	coding	Pathogenic
2	165312082	A	T	A165312082T	SCN2A	NM_001040142.2(SCN2A):c.1028A>T:p.Asp343Val	coding	Pathogenic
2	165313322	T	A	T165313322A	SCN2A	NM_001040142.2(SCN2A):c.1035-298T>A	noncoding	Benign
2	165313563	A	G	A165313563G	SCN2A	NM_001040142.2(SCN2A):c.1035-57A>G	noncoding	Benign
2	165313617	T	C	T165313617C	SCN2A	NM_001040142.2(SCN2A):c.1035-3T>C	noncoding	Benign
2	165313621	C	T	C165313621T	SCN2A	NM_001040142.2(SCN2A):c.1036C>T:p.Gln346Ter	coding	Pathogenic
2	165313722	T	C	T165313722C	SCN2A	NM_001040142.2(SCN2A):c.1137T>C:p.Arg379=	coding	Benign
2	165313732	C	G	C165313732G	SCN2A	NM_001040142.2(SCN2A):c.1147C>G:p.Gln383Glu	coding	Pathogenic
2	165313944	C	T	C165313944T	SCN2A	NM_001040142.2(SCN2A):c.1219C>T:p.Leu407=	coding	Benign
2	165314014	A	C	A165314014C	SCN2A	NM_001040142.2(SCN2A):c.1289A>C:p.Glu430Ala	coding	Pathogenic
2	165314067	C	T	C165314067T	SCN2A	NM_001040142.2(SCN2A):c.1342C>T:p.Gln448Ter	coding	Pathogenic
2	165314088	A	T	A165314088T	SCN2A	NM_001040142.2(SCN2A):c.1363A>T:p.Lys455Ter	coding	Pathogenic
2	165314297	A	C	A165314297C	SCN2A	NM_001040142.2(SCN2A):c.1383+189A>C	noncoding	Benign
2	165315503	A	G	A165315503G	SCN2A	NM_001040142.2(SCN2A):c.1416A>G:p.Arg472=	coding	Benign/Likely_benign
2	165315566	G	A	G165315566A	SCN2A	NM_001040142.2(SCN2A):c.1479G>A:p.Leu493=	coding	Benign
2	165315623	A	G	A165315623G	SCN2A	NM_001040142.2(SCN2A):c.1536A>G:p.Glu512=	coding	Benign/Likely_benign
2	165315658	G	A	G165315658A	SCN2A	NM_001040142.2(SCN2A):c.1571G>A:p.Arg524Gln	coding	Benign/Likely_benign
2	165315687	A	T	A165315687T	SCN2A	NM_001040142.2(SCN2A):c.1600A>T:p.Arg534Ter	coding	Pathogenic
2	165322847	C	A	C165322847A	SCN2A	NM_001040142.2(SCN2A):c.1672-309C>A	noncoding	Benign
2	165323140	C	T	C165323140T	SCN2A	NM_001040142.2(SCN2A):c.1672-16C>T	noncoding	Benign
2	165323209	G	A	G165323209A	SCN2A	NM_001040142.2(SCN2A):c.1725G>A:p.Ala575=	coding	Benign/Likely_benign
2	165323231	C	T	C165323231T	SCN2A	NM_001040142.2(SCN2A):c.1747C>T:p.Arg583Ter	coding	Pathogenic
2	165323269	T	C	T165323269C	SCN2A	NM_001040142.2(SCN2A):c.1785T>C:p.Asp595=	coding	Benign
2	165323303	C	T	C165323303T	SCN2A	NM_001040142.2(SCN2A):c.1819C>T:p.Arg607Ter	coding	Pathogenic
2	165323326	G	T	G165323326T	SCN2A	NM_001040142.2(SCN2A):c.1842G>T:p.Pro614=	coding	Benign
2	165323443	G	A	G165323443A	SCN2A	NM_001040142.2(SCN2A):c.1959G>A:p.Val653=	coding	Benign
2	165323455	C	T	C165323455T	SCN2A	NM_001040142.2(SCN2A):c.1971C>T:p.Val657=	coding	Benign/Likely_benign
2	165323837	T	A	T165323837A	SCN2A	NM_001040142.2(SCN2A):c.2016+337T>A	noncoding	Benign
2	165326704	G	T	G165326704T	SCN2A	NM_001040142.2(SCN2A):c.2017-148G>T	noncoding	Benign
2	165326763	A	G	A165326763G	SCN2A	NM_001040142.2(SCN2A):c.2017-89A>G	noncoding	Benign
2	165326869	A	G	A165326869G	SCN2A	NM_001040142.2(SCN2A):c.2034A>G:p.Thr678=	coding	Benign/Likely_benign
2	165326918	T	C	T165326918C	SCN2A	NM_001040142.2(SCN2A):c.2083T>C:p.Leu695=	coding	Benign/Likely_benign
2	165326992	A	G	A165326992G	SCN2A	NM_001040142.2(SCN2A):c.2149+8A>G	noncoding	Benign
2	165327003	G	A	G165327003A	SCN2A	NM_001040142.2(SCN2A):c.2149+19G>A	noncoding	Benign
2	165327067	C	T	C165327067T	SCN2A	NM_001040142.2(SCN2A):c.2149+83C>T	noncoding	Benign
2	165331024	T	C	T165331024C	SCN2A	NM_001040142.2(SCN2A):c.2150-306T>C	noncoding	Benign
2	165331125	T	G	T165331125G	SCN2A	NM_001040142.2(SCN2A):c.2150-205T>G	noncoding	Benign
2	165331355	C	T	C165331355T	SCN2A	NM_001040142.2(SCN2A):c.2175C>T:p.Cys725=	coding	Benign
2	165331362	T	C	T165331362C	SCN2A	NM_001040142.2(SCN2A):c.2182T>C:p.Cys728Arg	coding	Pathogenic
2	165331497	A	G	A165331497G	SCN2A	NM_001040142.2(SCN2A):c.2317A>G:p.Thr773Ala	coding	Pathogenic
2	165331536	C	T	C165331536T	SCN2A	NM_001040142.2(SCN2A):c.2356C>T:p.Gln786Ter	coding	Pathogenic
2	165331569	G	A	G165331569A	SCN2A	NM_001040142.2(SCN2A):c.2388+1G>A	coding	Pathogenic
2	165342016	A	G	A165342016G	SCN2A	NM_001040142.2(SCN2A):c.2389-280A>G	noncoding	Benign
2	165342278	A	C	A165342278C	SCN2A	NM_001040142.2(SCN2A):c.2389-18A>C	noncoding	Benign
2	165342411	T	G	T165342411G	SCN2A	NM_001040142.2(SCN2A):c.2504T>G:p.Leu835Ter	coding	Pathogenic
2	165342455	C	T	C165342455T	SCN2A	NM_001040142.2(SCN2A):c.2548C>T:p.Arg850Ter	coding	Pathogenic/Likely_pathogenic
2	165342465	G	A	G165342465A	SCN2A	NM_001040142.2(SCN2A):c.2558G>A:p.Arg853Gln	coding	Pathogenic/Likely_pathogenic
2	165342470	G	T	G165342470T	SCN2A	NM_001040142.2(SCN2A):c.2562+1G>T	coding	Pathogenic
2	165342471	T	C	T165342471C	SCN2A	NM_001040142.2(SCN2A):c.2562+2T>C	noncoding	Pathogenic
2	165342474	A	G	A165342474G	SCN2A	NM_001040142.2(SCN2A):c.2562+5A>G	noncoding	Benign/Likely_benign
2	165342774	T	A	T165342774A	SCN2A	NM_001040142.2(SCN2A):c.2562+305T>A	noncoding	Benign
2	165344371	A	G	A165344371G	SCN2A	NM_001040142.2(SCN2A):c.2563-184A>G	noncoding	Benign
2	165344558	C	T	C165344558T	SCN2A	NM_001040142.2(SCN2A):c.2566C>T:p.Arg856Ter	coding	Pathogenic/Likely_pathogenic
2	165344559	G	A	G165344559A	SCN2A	NM_001040142.2(SCN2A):c.2567G>A:p.Arg856Gln	coding	Pathogenic/Likely_pathogenic
2	165344619	A	G	A165344619G	SCN2A	NM_001040142.2(SCN2A):c.2627A>G:p.Asn876Ser	coding	Pathogenic/Likely_pathogenic
2	165344627	G	A	G165344627A	SCN2A	NM_001040142.2(SCN2A):c.2635G>A:p.Gly879Arg	coding	Pathogenic
2	165344637	G	A	G165344637A	SCN2A	NM_001040142.2(SCN2A):c.2645G>A:p.Gly882Glu	coding	Pathogenic
2	165344666	G	A	G165344666A	SCN2A	NM_001040142.2(SCN2A):c.2674G>A:p.Val892Ile	coding	Pathogenic/Likely_pathogenic
2	165344679	C	T	C165344679T	SCN2A	NM_001040142.2(SCN2A):c.2687C>T:p.Ala896Val	coding	Pathogenic/Likely_pathogenic
2	165344698	C	G	C165344698G	SCN2A	NM_001040142.2(SCN2A):c.2706C>G:p.Leu902=	coding	Benign/Likely_benign
2	165344707	G	C	G165344707C	SCN2A	NM_001040142.2(SCN2A):c.2715G>C:p.Lys905Asn	coding	Pathogenic
2	165344715	A	G	A165344715G	SCN2A	NM_001040142.2(SCN2A):c.2723A>G:p.Lys908Arg	coding	Benign/Likely_benign
2	165344801	C	T	C165344801T	SCN2A	NM_001040142.2(SCN2A):c.2809C>T:p.Arg937Cys	coding	Pathogenic
2	165344802	G	A	G165344802A	SCN2A	NM_001040142.2(SCN2A):c.2810G>A:p.Arg937His	coding	Pathogenic
2	165344851	C	T	C165344851T	SCN2A	NM_001040142.2(SCN2A):c.2859C>T:p.Val953=	coding	Benign/Likely_benign
2	165344869	C	A	C165344869A	SCN2A	NM_001040142.2(SCN2A):c.2877C>A:p.Cys959Ter	coding	Pathogenic
2	165344919	G	A	G165344919A	SCN2A	NM_001040142.2(SCN2A):c.2919+8G>A	noncoding	Benign/Likely_benign
2	165354232	G	T	G165354232T	SCN2A	NM_001040142.2(SCN2A):c.2960G>T:p.Ser987Ile	coding	Pathogenic/Likely_pathogenic
2	165354267	G	A	G165354267A	SCN2A	NM_001040142.2(SCN2A):c.2995G>A:p.Glu999Lys	coding	Pathogenic/Likely_pathogenic
2	165354395	G	A	G165354395A	SCN2A	NM_001040142.2(SCN2A):c.3123G>A:p.Pro1041=	coding	Benign/Likely_benign
2	165354485	A	C	A165354485C	SCN2A	NM_001040142.2(SCN2A):c.3213A>C:p.Gly1071=	coding	Benign
2	165354644	C	T	C165354644T	SCN2A	NM_001040142.2(SCN2A):c.3372C>T:p.Ser1124=	coding	Benign
2	165364799	A	G	A165364799G	SCN2A	NM_001040142.2(SCN2A):c.3400-344A>G	noncoding	Benign
2	165365072	C	T	C165365072T	SCN2A	NM_001040142.2(SCN2A):c.3400-71C>T	noncoding	Benign
2	165365196	C	T	C165365196T	SCN2A	NM_001040142.2(SCN2A):c.3453C>T:p.Pro1151=	coding	Benign/Likely_benign
2	165367290	G	A	G165367290A	SCN2A	NM_001040142.2(SCN2A):c.3594G>A:p.Arg1198=	coding	Benign/Likely_benign
2	165367327	G	A	G165367327A	SCN2A	NM_001040142.2(SCN2A):c.3631G>A:p.Glu1211Lys	coding	Pathogenic/Likely_pathogenic
2	165367390	A	G	A165367390G	SCN2A	NM_001040142.2(SCN2A):c.3675+19A>G	noncoding	Benign
2	165367537	G	A	G165367537A	SCN2A	NM_001040142.2(SCN2A):c.3675+166G>A	noncoding	Benign
2	165367595	A	C	A165367595C	SCN2A	NM_001040142.2(SCN2A):c.3675+224A>C	noncoding	Benign
2	165367665	G	C	G165367665C	SCN2A	NM_001040142.2(SCN2A):c.3675+294G>C	noncoding	Benign
2	165369848	G	C	G165369848C	SCN2A	NM_001040142.2(SCN2A):c.3676-278G>C	noncoding	Benign
2	165370147	G	T	G165370147T	SCN2A	NM_001040142.2(SCN2A):c.3697G>T:p.Glu1233Ter	coding	Pathogenic
2	165370153	C	T	C165370153T	SCN2A	NM_001040142.2(SCN2A):c.3703C>T:p.Arg1235Ter	coding	Pathogenic
2	165370468	A	G	A165370468G	SCN2A	NM_001040142.2(SCN2A):c.3849+169A>G	noncoding	Benign
2	165370540	T	G	T165370540G	SCN2A	NM_001040142.2(SCN2A):c.3849+241T>G	noncoding	Benign
2	165370597	A	G	A165370597G	SCN2A	NM_001040142.2(SCN2A):c.3849+298A>G	noncoding	Benign
2	165372886	A	G	A165372886G	SCN2A	NM_001040142.2(SCN2A):c.3850-339A>G	noncoding	Benign
2	165372999	C	T	C165372999T	SCN2A	NM_001040142.2(SCN2A):c.3850-226C>T	noncoding	Benign
2	165373223	A	G	A165373223G	SCN2A	NM_001040142.2(SCN2A):c.3850-2A>G	noncoding	Pathogenic
2	165373267	G	T	G165373267T	SCN2A	NM_001040142.2(SCN2A):c.3892G>T:p.Glu1298Ter	coding	Pathogenic
2	165373319	G	A	G165373319A	SCN2A	NM_001040142.2(SCN2A):c.3944G>A:p.Arg1315Lys	coding	Pathogenic
2	165373322	C	T	C165373322T	SCN2A	NM_001040142.2(SCN2A):c.3947C>T:p.Ala1316Val	coding	Pathogenic/Likely_pathogenic
2	165373329	C	A	C165373329A	SCN2A	NM_001040142.2(SCN2A):c.3954C>A:p.Ser1318=	coding	Benign/Likely_benign
2	165373331	G	A	G165373331A	SCN2A	NM_001040142.2(SCN2A):c.3956G>A:p.Arg1319Gln	coding	Pathogenic
2	165373331	G	T	G165373331T	SCN2A	NM_001040142.2(SCN2A):c.3956G>T:p.Arg1319Leu	coding	Pathogenic
2	165373342	A	G	A165373342G	SCN2A	NM_001040142.2(SCN2A):c.3967A>G:p.Met1323Val	coding	Pathogenic
2	165373420	T	A	T165373420A	SCN2A	NM_001040142.2(SCN2A):c.3972+73T>A	noncoding	Benign
2	165374689	T	A	T165374689A	SCN2A	NM_001040142.2(SCN2A):c.3977T>A:p.Val1326Asp	coding	Pathogenic
2	165374697	G	T	G165374697T	SCN2A	NM_001040142.2(SCN2A):c.3985G>T:p.Ala1329Ser	coding	Pathogenic
2	165374700	C	T	C165374700T	SCN2A	NM_001040142.2(SCN2A):c.3988C>T:p.Leu1330Phe	coding	Pathogenic
2	165374737	T	C	T165374737C	SCN2A	NM_001040142.2(SCN2A):c.4025T>C:p.Leu1342Pro	coding	Pathogenic/Likely_pathogenic
2	165374748	A	G	A165374748G	SCN2A	NM_001040142.2(SCN2A):c.4036A>G:p.Ile1346Val	coding	Pathogenic
2	165374822	C	T	C165374822T	SCN2A	NM_001040142.2(SCN2A):c.4110C>T:p.Thr1370=	coding	Benign
2	165375124	A	G	A165375124G	SCN2A	NM_001040142.2(SCN2A):c.4254+158A>G	noncoding	Benign
2	165377566	A	G	A165377566G	SCN2A	NM_001040142.2(SCN2A):c.4255-31A>G	noncoding	Benign
2	165377609	G	T	G165377609T	SCN2A	NM_001040142.2(SCN2A):c.4267G>T:p.Gly1423Ter	coding	Pathogenic
2	165377629	T	C	T165377629C	SCN2A	NM_001040142.2(SCN2A):c.4287T>C:p.Tyr1429=	coding	Benign/Likely_benign
2	165377645	C	T	C165377645T	SCN2A	NM_001040142.2(SCN2A):c.4303C>T:p.Arg1435Ter	coding	Pathogenic/Likely_pathogenic
2	165377651	G	A	G165377651A	SCN2A	NM_001040142.2(SCN2A):c.4308+1G>A	coding	Pathogenic
2	165377652	T	C	T165377652C	SCN2A	NM_001040142.2(SCN2A):c.4308+2T>C	noncoding	Pathogenic
2	165377855	A	G	A165377855G	SCN2A	NM_001040142.2(SCN2A):c.4308+205A>G	noncoding	Benign
2	165380633	T	G	T165380633G	SCN2A	NM_001040142.2(SCN2A):c.4350T>G:p.Tyr1450Ter	coding	Pathogenic
2	165380702	A	G	A165380702G	SCN2A	NM_001040142.2(SCN2A):c.4419A>G:p.Ile1473Met	coding	Pathogenic
2	165381114	A	G	A165381114G	SCN2A	NM_001040142.2(SCN2A):c.4468A>G:p.Met1490Val	coding	Pathogenic/Likely_pathogenic
2	165381163	C	A	C165381163A	SCN2A	NM_001040142.2(SCN2A):c.4517C>A:p.Ser1506Ter	coding	Pathogenic
2	165381185	A	T	A165381185T	SCN2A	NM_001040142.2(SCN2A):c.4539A>T:p.Ile1513=	coding	Benign/Likely_benign
2	165381524	T	C	T165381524C	SCN2A	NM_001040142.2(SCN2A):c.4551+327T>C	noncoding	Benign
2	165386785	C	T	C165386785T	SCN2A	NM_001040142.2(SCN2A):c.4591C>T:p.Gln1531Ter	coding	Pathogenic
2	165386827	A	G	A165386827G	SCN2A	NM_001040142.2(SCN2A):c.4633A>G:p.Met1545Val	coding	Pathogenic/Likely_pathogenic
2	165386881	C	G	C165386881G	SCN2A	NM_001040142.2(SCN2A):c.4687C>G:p.Leu1563Val	coding	Pathogenic
2	165386912	T	C	T165386912C	SCN2A	NM_001040142.2(SCN2A):c.4718T>C:p.Leu1573Pro	coding	Pathogenic
2	165386920	G	A	G165386920A	SCN2A	NM_001040142.2(SCN2A):c.4726G>A:p.Gly1576Arg	coding	Pathogenic
2	165386960	A	G	A165386960G	SCN2A	NM_001040142.2(SCN2A):c.4766A>G:p.Tyr1589Cys	coding	Pathogenic/Likely_pathogenic
2	165386971	G	A	G165386971A	SCN2A	NM_001040142.2(SCN2A):c.4777G>A:p.Gly1593Arg	coding	Pathogenic
2	165388666	G	A	G165388666A	SCN2A	NM_001040142.2(SCN2A):c.4860G>A:p.Val1620=	coding	Benign/Likely_benign
2	165388671	C	G	C165388671G	SCN2A	NM_001040142.2(SCN2A):c.4865C>G:p.Pro1622Arg	coding	Pathogenic
2	165388682	C	T	C165388682T	SCN2A	NM_001040142.2(SCN2A):c.4876C>T:p.Arg1626Ter	coding	Pathogenic
2	165388692	G	T	G165388692T	SCN2A	NM_001040142.2(SCN2A):c.4886G>T:p.Arg1629Leu	coding	Pathogenic
2	165388710	G	A	G165388710A	SCN2A	NM_001040142.2(SCN2A):c.4904G>A:p.Arg1635Gln	coding	Pathogenic
2	165388720	T	A	T165388720A	SCN2A	NM_001040142.2(SCN2A):c.4914T>A:p.Arg1638=	coding	Benign
2	165388721	C	T	C165388721T	SCN2A	NM_001040142.2(SCN2A):c.4915C>T:p.Leu1639=	coding	Benign
2	165388750	G	A	G165388750A	SCN2A	NM_001040142.2(SCN2A):c.4944G>A:p.Thr1648=	coding	Benign/Likely_benign
2	165388755	T	C	T165388755C	SCN2A	NM_001040142.2(SCN2A):c.4949T>C:p.Leu1650Pro	coding	Pathogenic
2	165388773	C	T	C165388773T	SCN2A	NM_001040142.2(SCN2A):c.4967C>T:p.Ser1656Phe	coding	Pathogenic
2	165388782	C	T	C165388782T	SCN2A	NM_001040142.2(SCN2A):c.4976C>T:p.Ala1659Val	coding	Pathogenic/Likely_pathogenic
2	165388795	C	T	C165388795T	SCN2A	NM_001040142.2(SCN2A):c.4989C>T:p.Ile1663=	coding	Benign/Likely_benign
2	165388925	C	T	C165388925T	SCN2A	NM_001040142.2(SCN2A):c.5119C>T:p.Leu1707=	coding	Benign
2	165389035	A	G	A165389035G	SCN2A	NM_001040142.2(SCN2A):c.5229A>G:p.Lys1743=	coding	Benign/Likely_benign
2	165389078	A	C	A165389078C	SCN2A	NM_001040142.2(SCN2A):c.5272A>C:p.Ser1758Arg	coding	Pathogenic
2	165389114	A	T	A165389114T	SCN2A	NM_001040142.2(SCN2A):c.5308A>T:p.Met1770Leu	coding	Pathogenic
2	165389123	G	A	G165389123A	SCN2A	NM_001040142.2(SCN2A):c.5317G>A:p.Ala1773Thr	coding	Pathogenic/Likely_pathogenic
2	165389124	C	A	C165389124A	SCN2A	NM_001040142.2(SCN2A):c.5318C>A:p.Ala1773Glu	coding	Pathogenic
2	165389124	C	T	C165389124T	SCN2A	NM_001040142.2(SCN2A):c.5318C>T:p.Ala1773Val	coding	Pathogenic/Likely_pathogenic
2	165389132	C	T	C165389132T	SCN2A	NM_001040142.2(SCN2A):c.5326C>T:p.Leu1776=	coding	Benign
2	165389170	G	A	G165389170A	SCN2A	NM_001040142.2(SCN2A):c.5364G>A:p.Glu1788=	coding	Benign/Likely_benign
2	165389194	G	A	G165389194A	SCN2A	NM_001040142.2(SCN2A):c.5388G>A:p.Glu1796=	coding	Benign
2	165389323	C	T	C165389323T	SCN2A	NM_001040142.2(SCN2A):c.5517C>T:p.Leu1839=	coding	Benign/Likely_benign
2	165389450	C	G	C165389450G	SCN2A	NM_001040142.2(SCN2A):c.5644C>G:p.Arg1882Gly	coding	Pathogenic
2	165389450	C	T	C165389450T	SCN2A	NM_001040142.2(SCN2A):c.5644C>T:p.Arg1882Ter	coding	Pathogenic
2	165389451	G	T	G165389451T	SCN2A	NM_001040142.2(SCN2A):c.5645G>T:p.Arg1882Leu	coding	Pathogenic
2	165389563	C	T	C165389563T	SCN2A	NM_001040142.2(SCN2A):c.5757C>T:p.Tyr1919=	coding	Benign
2	165389716	G	A	G165389716A	SCN2A	NM_001040142.2(SCN2A):c.5910G>A:p.Thr1970=	coding	Benign
2	165389725	C	T	C165389725T	SCN2A	NM_001040142.2(SCN2A):c.5919C>T:p.Pro1973=	coding	Benign
2	165389737	T	C	T165389737C	SCN2A	NM_001040142.2(SCN2A):c.5931T>C:p.Ser1977=	coding	Benign
2	165390241	C	T	C165390241T	SCN2A	NM_001040142.2(SCN2A):c.*417C>T	noncoding	Benign
2	165390381	G	A	G165390381A	SCN2A	NM_001040142.2(SCN2A):c.*557G>A	noncoding	Benign
2	165390677	C	T	C165390677T	SCN2A	NM_001040142.2(SCN2A):c.*853C>T	noncoding	Benign
2	165390860	T	C	T165390860C	SCN2A	NM_001040142.2(SCN2A):c.*1036T>C	noncoding	Benign
2	165390880	T	C	T165390880C	SCN2A	NM_001040142.2(SCN2A):c.*1056T>C	noncoding	Benign
2	165391298	G	A	G165391298A	SCN2A	NM_001040142.2(SCN2A):c.*1474G>A	noncoding	Benign
2	165391331	T	G	T165391331G	SCN2A	NM_001040142.2(SCN2A):c.*1507T>G	noncoding	Benign
2	165391537	G	A	G165391537A	SCN2A	NM_001040142.2(SCN2A):c.*1713G>A	noncoding	Benign
2	165391577	C	T	C165391577T	SCN2A	NM_001040142.2(SCN2A):c.*1753C>T	noncoding	Benign
2	165391582	C	T	C165391582T	SCN2A	NM_001040142.2(SCN2A):c.*1758C>T	noncoding	Benign
2	165392046	G	A	G165392046A	SCN2A	NM_001040142.2(SCN2A):c.*2222G>A	noncoding	Benign
2	165392188	T	G	T165392188G	SCN2A	NM_001040142.2(SCN2A):c.*2364T>G	noncoding	Benign
2	165392246	G	T	G165392246T	SCN2A	NM_001040142.2(SCN2A):c.*2422G>T	noncoding	Benign
2	165392247	A	G	A165392247G	SCN2A	NM_001040142.2(SCN2A):c.*2423A>G	noncoding	Benign
2	165392264	C	G	C165392264G	SCN2A	NM_001040142.2(SCN2A):c.*2440C>G	noncoding	Benign
2	165679078	G	A	G165679078A	CSRNP3	NM_001172173.2(CSRNP3):c.1083G>A:p.Thr361=	coding	Benign
2	165679246	C	A	C165679246A	CSRNP3	NM_001172173.2(CSRNP3):c.1251C>A:p.Ala417=	coding	Benign
2	165747998	T	C	T165747998C	GALNT3	NM_004482.4(GALNT3):c.*783A>G	noncoding	Benign
2	165748266	C	T	C165748266T	GALNT3	NM_004482.4(GALNT3):c.*515G>A	noncoding	Benign
2	165748500	A	T	A165748500T	GALNT3	NM_004482.4(GALNT3):c.*281T>A	noncoding	Benign
2	165748595	G	A	G165748595A	GALNT3	NM_004482.4(GALNT3):c.*186C>T	noncoding	Benign
2	165748856	A	G	A165748856G	GALNT3	NM_004482.4(GALNT3):c.1827T>C:p.Asn609=	coding	Benign
2	165749747	G	A	G165749747A	GALNT3	NM_004482.4(GALNT3):c.1774C>T:p.Gln592Ter	coding	Pathogenic
2	165749801	A	C	A165749801C	GALNT3	NM_004482.4(GALNT3):c.1720T>G:p.Cys574Gly	coding	Pathogenic
2	165749816	C	T	C165749816T	GALNT3	NM_004482.4(GALNT3):c.1705G>A:p.Val569Ile	coding	Benign
2	165754626	C	T	C165754626T	GALNT3	NM_004482.4(GALNT3):c.1626+1G>A	noncoding	Pathogenic
2	165754927	C	T	C165754927T	GALNT3	NM_004482.4(GALNT3):c.1524+5G>A	noncoding	Pathogenic
2	165754931	C	T	C165754931T	GALNT3	NM_004482.4(GALNT3):c.1524+1G>A	noncoding	Pathogenic
2	165755015	G	A	G165755015A	GALNT3	NM_004482.4(GALNT3):c.1441C>T:p.Gln481Ter	coding	Pathogenic
2	165758862	G	T	G165758862T	GALNT3	NM_004482.4(GALNT3):c.1076C>A:p.Thr359Lys	coding	Pathogenic
2	165759443	A	C	A165759443C	GALNT3	NM_004482.4(GALNT3):c.966T>G:p.Tyr322Ter	coding	Pathogenic
2	165759508	C	T	C165759508T	GALNT3	NM_004482.4(GALNT3):c.901G>A:p.Val301Ile	coding	Benign/Likely_benign
2	165761928	G	T	G165761928T	GALNT3	NM_004482.4(GALNT3):c.815C>A:p.Thr272Lys	coding	Pathogenic
2	165761944	C	A	C165761944A	GALNT3	NM_004482.4(GALNT3):c.799G>T:p.Val267Phe	coding	Benign
2	165764903	C	T	C165764903T	GALNT3	NM_004482.4(GALNT3):c.669G>A:p.Val223=	coding	Benign
2	165765058	T	A	T165765058A	GALNT3	NM_004482.4(GALNT3):c.516-2A>T	noncoding	Pathogenic
2	165770196	G	A	G165770196A	GALNT3	NM_004482.4(GALNT3):c.505C>T:p.Arg169Ter	coding	Pathogenic
2	165770217	G	A	G165770217A	GALNT3	NM_004482.4(GALNT3):c.484C>T:p.Arg162Ter	coding	Pathogenic
2	165770294	T	C	T165770294C	GALNT3	NM_004482.4(GALNT3):c.407A>G:p.Glu136Gly	coding	Benign
2	165770569	T	C	T165770569C	GALNT3	NM_004482.4(GALNT3):c.132A>G:p.Gln44=	coding	Benign
2	165794201	A	T	A165794201T	GALNT3	NM_004482.4(GALNT3):c.-295T>A	noncoding	Benign
2	165873650	C	A	C165873650A	TTC21B	NM_024753.5(TTC21B):c.*1105G>T	noncoding	Benign
2	165873781	G	C	G165873781C	TTC21B	NM_024753.5(TTC21B):c.*974C>G	noncoding	Benign
2	165873877	T	C	T165873877C	TTC21B	NM_024753.5(TTC21B):c.*878A>G	noncoding	Benign
2	165874650	C	T	C165874650T	TTC21B	NM_024753.5(TTC21B):c.*105G>A	noncoding	Benign
2	165883873	A	G	A165883873G	TTC21B	NM_024753.5(TTC21B):c.3605T>C:p.Leu1202Pro	coding	Pathogenic
2	165883959	A	G	A165883959G	TTC21B	NM_024753.5(TTC21B):c.3519T>C:p.Thr1173=	coding	Benign
2	165884068	C	T	C165884068T	TTC21B	NM_024753.5(TTC21B):c.3460-50G>A	noncoding	Benign
2	165888322	A	G	A165888322G	TTC21B	NM_024753.5(TTC21B):c.3416T>C:p.Val1139Ala	coding	Benign/Likely_benign
2	165888704	T	C	T165888704C	TTC21B	NM_024753.5(TTC21B):c.3264-230A>G	noncoding	Benign
2	165891275	A	G	A165891275G	TTC21B	NM_024753.5(TTC21B):c.2951-287T>C	noncoding	Benign
2	165898670	A	G	A165898670G	TTC21B	NM_024753.5(TTC21B):c.2950+16T>C	noncoding	Benign
2	165899882	T	C	T165899882C	TTC21B	NM_024753.5(TTC21B):c.2758-2A>G	noncoding	Pathogenic
2	165901737	G	A	G165901737A	TTC21B	NM_024753.5(TTC21B):c.2742C>T:p.Cys914=	coding	Benign
2	165907746	G	A	G165907746A	TTC21B	NM_024753.5(TTC21B):c.2500C>T:p.Gln834Ter	coding	Pathogenic
2	165907803	T	G	T165907803G	TTC21B	NM_024753.5(TTC21B):c.2462-19A>C	noncoding	Benign
2	165908088	T	C	T165908088C	TTC21B	NM_024753.5(TTC21B):c.2462-304A>G	noncoding	Benign
2	165911403	C	G	C165911403G	TTC21B	NM_024753.5(TTC21B):c.2385G>C:p.Leu795=	coding	Benign
2	165911404	A	G	A165911404G	TTC21B	NM_024753.5(TTC21B):c.2384T>C:p.Leu795Pro	coding	Pathogenic
2	165911454	G	A	G165911454A	TTC21B	NM_024753.5(TTC21B):c.2334C>T:p.Tyr778=	coding	Benign
2	165911753	T	C	T165911753C	TTC21B	NM_024753.5(TTC21B):c.2323-288A>G	noncoding	Benign
2	165912511	T	C	T165912511C	TTC21B	NM_024753.5(TTC21B):c.2322+3A>G	noncoding	Benign/Likely_benign
2	165913561	T	C	T165913561C	TTC21B	NM_024753.5(TTC21B):c.2211+13A>G	noncoding	Benign
2	165913610	A	G	A165913610G	TTC21B	NM_024753.5(TTC21B):c.2175T>C:p.Phe725=	coding	Benign
2	165914871	T	C	T165914871C	TTC21B	NM_024753.5(TTC21B):c.2138+330A>G	noncoding	Benign
2	165915153	C	T	C165915153T	TTC21B	NM_024753.5(TTC21B):c.2138+48G>A	noncoding	Benign
2	165915340	G	A	G165915340A	TTC21B	NM_024753.5(TTC21B):c.1999C>T:p.Gln667Ter	coding	Pathogenic
2	165915374	C	T	C165915374T	TTC21B	NM_024753.5(TTC21B):c.1965G>A:p.Arg655=	coding	Benign
2	165917286	T	C	T165917286C	TTC21B	NM_024753.5(TTC21B):c.1870A>G:p.Ile624Val	coding	Benign/Likely_benign
2	165917289	A	G	A165917289G	TTC21B	NM_024753.5(TTC21B):c.1867T>C:p.Leu623=	coding	Benign/Likely_benign
2	165917461	G	A	G165917461A	TTC21B	NM_024753.5(TTC21B):c.1695C>T:p.Tyr565=	coding	Benign
2	165919294	A	T	A165919294T	TTC21B	NM_024753.5(TTC21B):c.1656T>A:p.Cys552Ter	coding	Pathogenic
2	165919379	G	C	G165919379C	TTC21B	NM_024753.5(TTC21B):c.1571C>G:p.Ser524Cys	coding	Benign/Likely_benign
2	165924648	G	A	G165924648A	TTC21B	NM_024753.5(TTC21B):c.1417C>T:p.Leu473Phe	coding	Benign
2	165924678	G	A	G165924678A	TTC21B	NM_024753.5(TTC21B):c.1387C>T:p.Pro463Ser	coding	Benign
2	165929290	G	A	G165929290A	TTC21B	NM_024753.5(TTC21B):c.1231C>T:p.Arg411Ter	coding	Pathogenic
2	165929627	G	C	G165929627C	TTC21B	NM_024753.5(TTC21B):c.1185+23C>G	noncoding	Benign
2	165931814	T	C	T165931814C	TTC21B	NM_024753.5(TTC21B):c.838A>G:p.Met280Val	coding	Benign/Likely_benign
2	165931826	T	C	T165931826C	TTC21B	NM_024753.5(TTC21B):c.826A>G:p.Thr276Ala	coding	Benign
2	165933044	C	T	C165933044T	TTC21B	NM_024753.5(TTC21B):c.724G>A:p.Asp242Asn	coding	Benign/Likely_benign
2	165941053	C	T	C165941053T	TTC21B	NM_024753.5(TTC21B):c.684G>A:p.Trp228Ter	coding	Pathogenic
2	165941072	T	A	T165941072A	TTC21B	NM_024753.5(TTC21B):c.665A>T:p.Gln222Leu	coding	Benign/Likely_benign
2	165941111	G	A	G165941111A	TTC21B	NM_024753.5(TTC21B):c.626C>T:p.Pro209Leu	coding	Pathogenic
2	165941136	C	T	C165941136T	TTC21B	NM_024753.5(TTC21B):c.601G>A:p.Val201Met	coding	Benign
2	165941149	A	C	A165941149C	TTC21B	NM_024753.5(TTC21B):c.588T>G:p.Gly196=	coding	Benign/Likely_benign
2	165945372	T	G	T165945372G	TTC21B	NM_024753.5(TTC21B):c.429+152A>C	noncoding	Benign
2	165949506	T	C	T165949506C	TTC21B	NM_024753.5(TTC21B):c.152-2A>G	noncoding	Pathogenic
2	165949615	G	T	G165949615T	TTC21B	NM_024753.5(TTC21B):c.131C>A:p.Ala44Asp	coding	Pathogenic
2	165949632	G	C	G165949632C	TTC21B	NM_024753.5(TTC21B):c.114C>G:p.Val38=	coding	Benign
2	165953850	C	T	C165953850T	TTC21B	NM_024753.4(TTC21B):c.-145G>A	noncoding	Benign
2	165954114	T	C	T165954114C	TTC21B	NC_000002.12:g.165954114T>C	noncoding	Benign
2	165989284	G	A	G165989284A	SCN1A	NM_001165963.4(SCN1A):c.*1961C>T	noncoding	Benign/Likely_benign
2	165989293	A	G	A165989293G	SCN1A	NM_001165963.4(SCN1A):c.*1952T>C	noncoding	Benign/Likely_benign
2	165989506	G	A	G165989506A	SCN1A	NM_001165963.4(SCN1A):c.*1739C>T	noncoding	Benign
2	165989552	T	C	T165989552C	SCN1A	NM_001165963.4(SCN1A):c.*1693A>G	noncoding	Benign/Likely_benign
2	165989592	G	A	G165989592A	SCN1A	NM_001165963.4(SCN1A):c.*1653C>T	noncoding	Benign/Likely_benign
2	165990021	C	T	C165990021T	SCN1A	NM_001165963.4(SCN1A):c.*1224G>A	noncoding	Benign/Likely_benign
2	165990220	A	G	A165990220G	SCN1A	NM_001165963.4(SCN1A):c.*1025T>C	noncoding	Benign/Likely_benign
2	165990524	T	C	T165990524C	SCN1A	NM_001165963.4(SCN1A):c.*721A>G	noncoding	Benign
2	165990657	T	C	T165990657C	SCN1A	NM_001165963.4(SCN1A):c.*588A>G	noncoding	Benign/Likely_benign
2	165991225	T	C	T165991225C	SCN1A	NM_001165963.4(SCN1A):c.*20A>G	noncoding	Benign
2	165991411	A	G	A165991411G	SCN1A	NM_001165963.4(SCN1A):c.5864T>C:p.Ile1955Thr	coding	Benign/Likely_benign
2	165991493	G	C	G165991493C	SCN1A	NM_001165963.4(SCN1A):c.5782C>G:p.Arg1928Gly	coding	Benign/Likely_benign
2	165991495	C	G	C165991495G	SCN1A	NM_001165963.4(SCN1A):c.5780G>C:p.Arg1927Thr	coding	Pathogenic
2	165991497	G	C	G165991497C	SCN1A	NM_001165963.4(SCN1A):c.5778C>G:p.Tyr1926Ter	coding	Pathogenic
2	165991509	A	G	A165991509G	SCN1A	NM_001165963.4(SCN1A):c.5766T>C:p.Ile1922=	coding	Benign/Likely_benign
2	165991510	A	C	A165991510C	SCN1A	NM_001165963.4(SCN1A):c.5765T>G:p.Ile1922Ser	coding	Pathogenic
2	165991529	C	A	C165991529A	SCN1A	NM_001165963.4(SCN1A):c.5746G>T:p.Glu1916Ter	coding	Pathogenic
2	165991541	G	A	G165991541A	SCN1A	NM_001165963.4(SCN1A):c.5734C>T:p.Arg1912Ter	coding	Pathogenic
2	165991549	G	A	G165991549A	SCN1A	NM_001165963.4(SCN1A):c.5726C>T:p.Thr1909Ile	coding	Pathogenic/Likely_pathogenic
2	165991565	G	A	G165991565A	SCN1A	NM_001165963.4(SCN1A):c.5710C>T:p.Gln1904Ter	coding	Pathogenic
2	165991601	G	A	G165991601A	SCN1A	NM_001165963.4(SCN1A):c.5674C>T:p.Arg1892Ter	coding	Pathogenic
2	165991613	G	A	G165991613A	SCN1A	NM_001165963.4(SCN1A):c.5662C>T:p.Gln1888Ter	coding	Pathogenic
2	165991619	G	A	G165991619A	SCN1A	NM_001165963.4(SCN1A):c.5656C>T:p.Arg1886Ter	coding	Pathogenic
2	165991704	C	T	C165991704T	SCN1A	NM_001165963.4(SCN1A):c.5571G>A:p.Val1857=	coding	Benign
2	165991708	A	T	A165991708T	SCN1A	NM_001165963.4(SCN1A):c.5567T>A:p.Met1856Lys	coding	Pathogenic
2	165991720	A	G	A165991720G	SCN1A	NM_001165963.4(SCN1A):c.5555T>C:p.Met1852Thr	coding	Pathogenic
2	165991739	T	A	T165991739A	SCN1A	NM_001165963.4(SCN1A):c.5536A>T:p.Lys1846Ter	coding	Pathogenic
2	165991760	G	C	G165991760C	SCN1A	NM_001165963.4(SCN1A):c.5515C>G:p.Leu1839Val	coding	Pathogenic
2	165991769	C	A	C165991769A	SCN1A	NM_001165963.4(SCN1A):c.5506G>T:p.Glu1836Ter	coding	Pathogenic/Likely_pathogenic
2	165991783	A	C	A165991783C	SCN1A	NM_001165963.4(SCN1A):c.5492T>G:p.Phe1831Cys	coding	Pathogenic
2	165991805	C	A	C165991805A	SCN1A	NM_001165963.4(SCN1A):c.5470G>T:p.Glu1824Ter	coding	Pathogenic
2	165991814	G	A	G165991814A	SCN1A	NM_001165963.4(SCN1A):c.5461C>T:p.Gln1821Ter	coding	Pathogenic
2	165991839	C	T	C165991839T	SCN1A	NM_001165963.4(SCN1A):c.5436G>A:p.Trp1812Ter	coding	Pathogenic
2	165991840	C	T	C165991840T	SCN1A	NM_001165963.4(SCN1A):c.5435G>A:p.Trp1812Ter	coding	Pathogenic
2	165991853	A	G	A165991853G	SCN1A	NM_001165963.4(SCN1A):c.5422T>C:p.Phe1808Leu	coding	Pathogenic
2	165991857	C	T	C165991857T	SCN1A	NM_001165963.4(SCN1A):c.5418G>A:p.Glu1806=	coding	Benign/Likely_benign
2	165991859	C	A	C165991859A	SCN1A	NM_001165963.4(SCN1A):c.5416G>T:p.Glu1806Ter	coding	Pathogenic
2	165991871	C	A	C165991871A	SCN1A	NM_001165963.4(SCN1A):c.5404G>T:p.Glu1802Ter	coding	Pathogenic
2	165991887	A	T	A165991887T	SCN1A	NM_001165963.4(SCN1A):c.5388T>A:p.Ser1796Arg	coding	Pathogenic
2	165991919	G	A	G165991919A	SCN1A	NM_001165963.4(SCN1A):c.5356C>T:p.Leu1786=	coding	Benign
2	165991927	G	A	G165991927A	SCN1A	NM_001165963.4(SCN1A):c.5348C>T:p.Ala1783Val	coding	Pathogenic
2	165991928	C	T	C165991928T	SCN1A	NM_001165963.4(SCN1A):c.5347G>A:p.Ala1783Thr	coding	Pathogenic
2	165991929	G	C	G165991929C	SCN1A	NM_001165963.4(SCN1A):c.5346C>G:p.Ile1782Met	coding	Pathogenic
2	165991934	A	G	A165991934G	SCN1A	NM_001165963.4(SCN1A):c.5341T>C:p.Tyr1781His	coding	Pathogenic
2	165991963	A	C	A165991963C	SCN1A	NM_006920.6(SCN1A):c.5279T>G:p.Ile1760Ser	coding	Pathogenic
2	165991989	T	C	T165991989C	SCN1A	NM_001165963.4(SCN1A):c.5286A>G:p.Gly1762=	coding	Benign/Likely_benign
2	165991990	C	T	C165991990T	SCN1A	NM_001165963.4(SCN1A):c.5285G>A:p.Gly1762Glu	coding	Pathogenic
2	165992006	C	G	C165992006G	SCN1A	NM_001165963.4(SCN1A):c.5269G>C:p.Gly1757Arg	coding	Pathogenic
2	165992011	T	C	T165992011C	SCN1A	NM_001165963.4(SCN1A):c.5264A>G:p.Asp1755Gly	coding	Pathogenic
2	165992012	C	A	C165992012A	SCN1A	NM_001165963.4(SCN1A):c.5263G>T:p.Asp1755Tyr	coding	Pathogenic
2	165992053	C	G	C165992053G	SCN1A	NM_001165963.4(SCN1A):c.5222G>C:p.Cys1741Ser	coding	Pathogenic
2	165992053	C	T	C165992053T	SCN1A	NM_001165963.4(SCN1A):c.5222G>A:p.Cys1741Tyr	coding	Pathogenic
2	165992057	C	T	C165992057T	SCN1A	NM_001165963.4(SCN1A):c.5218G>A:p.Asp1740Asn	coding	Pathogenic/Likely_pathogenic
2	165992107	G	A	G165992107A	SCN1A	NM_001165963.4(SCN1A):c.5168C>T:p.Ser1723Phe	coding	Pathogenic/Likely_pathogenic
2	165992113	G	T	G165992113T	SCN1A	NM_001165963.4(SCN1A):c.5162C>A:p.Thr1721Lys	coding	Pathogenic
2	165992122	A	G	A165992122G	SCN1A	NM_001165963.4(SCN1A):c.5153T>C:p.Phe1718Ser	coding	Pathogenic
2	165992129	A	G	A165992129G	SCN1A	NM_001165963.4(SCN1A):c.5146T>C:p.Cys1716Arg	coding	Pathogenic
2	165992149	G	A	G165992149A	SCN1A	NM_001165963.4(SCN1A):c.5126C>T:p.Thr1709Ile	coding	Pathogenic
2	165992167	T	A	T165992167A	SCN1A	NM_001165963.4(SCN1A):c.5108A>T:p.Asp1703Val	coding	Pathogenic
2	165992169	A	T	A165992169T	SCN1A	NM_001165963.4(SCN1A):c.5106T>A:p.Asp1702Glu	coding	Pathogenic
2	165992193	A	C	A165992193C	SCN1A	NM_001165963.4(SCN1A):c.5082T>G:p.Tyr1694Ter	coding	Pathogenic
2	165992212	C	A	C165992212A	SCN1A	NM_001165963.4(SCN1A):c.5063G>T:p.Gly1688Val	coding	Pathogenic
2	165992222	C	G	C165992222G	SCN1A	NM_001165963.4(SCN1A):c.5053G>C:p.Ala1685Pro	coding	Pathogenic
2	165992261	T	G	T165992261G	SCN1A	NM_001165963.4(SCN1A):c.5014A>C:p.Asn1672His	coding	Pathogenic
2	165992269	G	T	G165992269T	SCN1A	NM_001165963.4(SCN1A):c.5006C>A:p.Ala1669Glu	coding	Pathogenic
2	165992272	G	C	G165992272C	SCN1A	NM_001165963.4(SCN1A):c.5003C>G:p.Pro1668Arg	coding	Pathogenic
2	165992278	G	A	G165992278A	SCN1A	NM_001165963.4(SCN1A):c.4997C>T:p.Ser1666Phe	coding	Pathogenic/Likely_pathogenic
2	165992285	T	G	T165992285G	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.4990A>C:p.Met1664Leu	coding	Pathogenic
2	165992290	G	A	G165992290A	SCN1A	NM_001165963.4(SCN1A):c.4985C>T:p.Ala1662Val	coding	Pathogenic
2	165992296	A	G	A165992296G	SCN1A	NM_001165963.4(SCN1A):c.4979T>C:p.Leu1660Pro	coding	Pathogenic
2	165992299	A	G	A165992299G	SCN1A	NM_001165963.4(SCN1A):c.4976T>C:p.Leu1659Pro	coding	Pathogenic
2	165992306	G	A	G165992306A	SCN1A	NM_001165963.4(SCN1A):c.4969C>T:p.Arg1657Cys	coding	Pathogenic
2	165992307	G	C	G165992307C	SCN1A	NM_001165963.4(SCN1A):c.4968C>G:p.Ile1656Met	coding	Pathogenic
2	165992330	G	A	G165992330A	SCN1A	NM_001165963.4(SCN1A):c.4945C>T:p.Leu1649=	coding	Benign/Likely_benign
2	165992332	C	A	C165992332A	SCN1A	NM_001165963.4(SCN1A):c.4943G>T:p.Arg1648Leu	coding	Pathogenic
2	165992332	C	T	C165992332T	SCN1A	NM_001165963.4(SCN1A):c.4943G>A:p.Arg1648His	coding	Pathogenic
2	165992333	G	A	G165992333A	SCN1A	NM_001165963.4(SCN1A):c.4942C>T:p.Arg1648Cys	coding	Pathogenic
2	165992341	C	G	C165992341G	SCN1A	NM_001165963.4(SCN1A):c.4934G>C:p.Arg1645Pro	coding	Pathogenic
2	165992341	C	T	C165992341T	SCN1A	NM_001165963.4(SCN1A):c.4934G>A:p.Arg1645Gln	coding	Pathogenic
2	165992342	G	A	G165992342A	SCN1A	NM_001165963.4(SCN1A):c.4933C>T:p.Arg1645Ter	coding	Pathogenic
2	165992344	C	T	C165992344T	SCN1A	NM_001165963.4(SCN1A):c.4931G>A:p.Gly1644Asp	coding	Pathogenic
2	165992360	G	C	G165992360C	SCN1A	NM_006920.6(SCN1A):c.4882C>G:p.Arg1628Gly	coding	Pathogenic
2	165992362	A	T	A165992362T	SCN1A	NM_001165963.4(SCN1A):c.4913T>A:p.Ile1638Asn	coding	Pathogenic/Likely_pathogenic
2	165992368	C	T	C165992368T	SCN1A	NM_001165963.4(SCN1A):c.4907G>A:p.Arg1636Gln	coding	Pathogenic/Likely_pathogenic
2	165992369	G	A	G165992369A	SCN1A	NM_001165963.4(SCN1A):c.4906C>T:p.Arg1636Ter	coding	Pathogenic
2	165992370	G	A	G165992370A	SCN1A	NM_001165963.4(SCN1A):c.4905C>T:p.Phe1635=	coding	Benign/Likely_benign
2	165992423	C	G	C165992423G	SCN1A	NM_006920.6(SCN1A):c.4820-1G>C	coding	Pathogenic
2	165992693	A	G	A165992693G	SCN1A	NM_006920.6(SCN1A):c.4820-271T>C	noncoding	Benign
2	165994145	C	A	C165994145A	SCN1A	NM_006920.6(SCN1A):c.4819+1G>T	noncoding	Pathogenic
2	165994167	C	A	C165994167A	SCN1A	NM_001165963.4(SCN1A):c.4831G>T:p.Val1611Phe	coding	Pathogenic
2	165994176	C	A	C165994176A	SCN1A	NM_001165963.4(SCN1A):c.4822G>T:p.Asp1608Tyr	coding	Pathogenic/Likely_pathogenic
2	165994187	C	T	C165994187T	SCN1A	NM_001165963.4(SCN1A):c.4811G>A:p.Trp1604Ter	coding	Pathogenic
2	165994204	A	C	A165994204C	SCN1A	NM_001165963.4(SCN1A):c.4794T>G:p.Tyr1598Ter	coding	Pathogenic
2	165994212	G	A	G165994212A	SCN1A	NM_001165963.4(SCN1A):c.4786C>T:p.Arg1596Cys	coding	Pathogenic/Likely_pathogenic
2	165994226	T	A	T165994226A	SCN1A	NM_001165963.4(SCN1A):c.4772A>T:p.Lys1591Ile	coding	Pathogenic
2	165994232	A	C	A165994232C	SCN1A	NM_001165963.4(SCN1A):c.4766T>G:p.Val1589Gly	coding	Pathogenic
2	165994234	A	T	A165994234T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.4764T>A:p.Cys1588Ter	coding	Pathogenic
2	165994236	A	G	A165994236G	SCN1A	NM_001165963.4(SCN1A):c.4762T>C:p.Cys1588Arg	coding	Pathogenic/Likely_pathogenic
2	165994241	C	T	C165994241T	SCN1A	NM_001165963.4(SCN1A):c.4757G>A:p.Gly1586Glu	coding	Pathogenic
2	165994294	A	T	A165994294T	SCN1A	NM_006920.6(SCN1A):c.4671T>A:p.Tyr1557Ter	coding	Pathogenic
2	165994305	G	A	G165994305A	SCN1A	NM_006920.6(SCN1A):c.4660C>T:p.Gln1554Ter	coding	Pathogenic
2	165994317	C	A	C165994317A	SCN1A	NM_001165963.4(SCN1A):c.4681G>T:p.Glu1561Ter	coding	Pathogenic
2	165994342	A	T	A165994342T	SCN1A	NM_006920.6(SCN1A):c.4623T>A:p.Cys1541Ter	coding	Pathogenic
2	165994365	T	C	T165994365C	SCN1A	NM_001165963.4(SCN1A):c.4633A>G:p.Ile1545Val	coding	Pathogenic
2	165994526	G	A	G165994526A	SCN1A	NM_006920.6(SCN1A):c.4549-110C>T	noncoding	Benign
2	165996008	C	G	C165996008G	SCN1A	NM_006920.6(SCN1A):c.4548+5G>C	noncoding	Pathogenic
2	165996012	C	T	C165996012T	SCN1A	NM_001165963.4(SCN1A):c.4581+1G>A	noncoding	Pathogenic
2	165996021	G	A	G165996021A	SCN1A	NM_001165963.4(SCN1A):c.4573C>T:p.Arg1525Ter	coding	Pathogenic
2	165996043	T	C	T165996043C	SCN1A	NM_001165963.4(SCN1A):c.4551A>G:p.Lys1517=	coding	Benign/Likely_benign
2	165996045	T	A	T165996045A	SCN1A	NM_001165963.4(SCN1A):c.4549A>T:p.Lys1517Ter	coding	Pathogenic
2	165996046	C	T	C165996046T	SCN1A	NM_001165963.4(SCN1A):c.4548G>A:p.Ser1516=	coding	Benign/Likely_benign
2	165996047	G	C	G165996047C	SCN1A	NM_001165963.4(SCN1A):c.4547C>G:p.Ser1516Trp	coding	Pathogenic
2	165996047	G	T	G165996047T	SCN1A	NM_001165963.4(SCN1A):c.4547C>A:p.Ser1516Ter	coding	Pathogenic
2	165996053	A	C	A165996053C	SCN1A	NM_001165963.4(SCN1A):c.4541T>G:p.Leu1514Ter	coding	Pathogenic
2	165996073	G	C	G165996073C	SCN1A	NM_001165963.4(SCN1A):c.4521C>G:p.Tyr1507Ter	coding	Pathogenic
2	165996088	T	C	T165996088C	SCN1A	NM_001165963.4(SCN1A):c.4506A>G:p.Glu1502=	coding	Benign
2	165996090	C	A	C165996090A	SCN1A	NM_001165963.4(SCN1A):c.4504G>T:p.Glu1502Ter	coding	Pathogenic
2	165996099	A	G	A165996099G	SCN1A	NM_001165963.4(SCN1A):c.4495T>C:p.Phe1499Leu	coding	Pathogenic
2	165996118	G	A	G165996118A	SCN1A	NM_006920.6(SCN1A):c.4444-1C>T	coding	Pathogenic
2	165996455	A	T	A165996455T	SCN1A	NM_006920.6(SCN1A):c.4444-338T>A	noncoding	Benign
2	165998037	T	A	T165998037A	SCN1A	NM_006920.6(SCN1A):c.4443+1A>T	noncoding	Pathogenic
2	165998037	T	C	T165998037C	SCN1A	NM_006920.6(SCN1A):c.4443+1A>G	noncoding	Pathogenic
2	165998047	C	G	C165998047G	SCN1A	NM_001165963.4(SCN1A):c.4467G>C:p.Gln1489His	coding	Pathogenic
2	165998049	G	T	G165998049T	SCN1A	NM_001165963.4(SCN1A):c.4465C>A:p.Gln1489Lys	coding	Pathogenic
2	165998073	C	T	C165998073T	SCN1A	NM_001165963.4(SCN1A):c.4441G>A:p.Val1481Ile	coding	Pathogenic/Likely_pathogenic
2	165998086	G	T	G165998086T	SCN1A	NM_006920.6(SCN1A):c.4395C>A:p.Asn1465Lys	coding	Pathogenic/Likely_pathogenic
2	165998102	G	A	G165998102A	SCN1A	NM_001165963.4(SCN1A):c.4412C>T:p.Ser1471Phe	coding	Pathogenic
2	165998121	T	C	T165998121C	SCN1A	NM_001165963.4(SCN1A):c.4393A>G:p.Ile1465Val	coding	Benign/Likely_benign
2	165998128	G	A	G165998128A	SCN1A	NM_001165963.4(SCN1A):c.4386C>T:p.Tyr1462=	coding	Benign
2	165998130	A	G	A165998130G	SCN1A	NM_001165963.4(SCN1A):c.4384T>C:p.Tyr1462His	coding	Pathogenic
2	165998162	G	A	G165998162A	SCN1A	NM_001165963.4(SCN1A):c.4352C>T:p.Pro1451Leu	coding	Pathogenic/Likely_pathogenic
2	165998163	G	C	G165998163C	SCN1A	NM_001165963.4(SCN1A):c.4351C>G:p.Pro1451Ala	coding	Pathogenic
2	165998163	G	T	G165998163T	SCN1A	NM_001165963.4(SCN1A):c.4351C>A:p.Pro1451Thr	coding	Pathogenic
2	165998176	C	T	C165998176T	SCN1A	NM_006920.6(SCN1A):c.4306-1G>A	coding	Pathogenic
2	165999719	T	G	T165999719G	SCN1A	NM_006920.6(SCN1A):c.4305+4A>C	noncoding	Pathogenic
2	165999722	C	A	C165999722A	SCN1A	NM_006920.6(SCN1A):c.4305+1G>T	noncoding	Pathogenic
2	165999722	C	G	C165999722G	SCN1A	NM_006920.6(SCN1A):c.4305+1G>C	noncoding	Pathogenic
2	165999728	T	A	T165999728A	SCN1A	NM_001165963.4(SCN1A):c.4333A>T:p.Arg1445Ter	coding	Pathogenic
2	165999730	G	T	G165999730T	SCN1A	NM_001165963.4(SCN1A):c.4331C>A:p.Ser1444Tyr	coding	Pathogenic
2	165999744	A	G	A165999744G	SCN1A	NM_001165963.4(SCN1A):c.4317T>C:p.Tyr1439=	coding	Benign
2	165999759	C	T	C165999759T	SCN1A	NM_001165963.4(SCN1A):c.4302G>A:p.Trp1434Ter	coding	Pathogenic
2	165999760	C	T	C165999760T	SCN1A	NM_001165963.4(SCN1A):c.4301G>A:p.Trp1434Ter	coding	Pathogenic
2	165999761	A	G	A165999761G	SCN1A	NM_001165963.4(SCN1A):c.4300T>C:p.Trp1434Arg	coding	Pathogenic
2	165999763	C	T	C165999763T	SCN1A	NM_001165963.4(SCN1A):c.4298G>A:p.Gly1433Glu	coding	Pathogenic
2	165999764	C	G	C165999764G	SCN1A	NM_001165963.4(SCN1A):c.4297G>C:p.Gly1433Arg	coding	Pathogenic
2	165999766	T	A	T165999766A	SCN1A	NM_006920.6(SCN1A):c.4262A>T:p.Lys1421Ile	coding	Pathogenic
2	165999776	C	T	C165999776T	SCN1A	NM_001165963.4(SCN1A):c.4285G>A:p.Ala1429Thr	coding	Pathogenic
2	166002470	A	G	A166002470G	SCN1A	NM_006920.6(SCN1A):c.4251+2T>C	noncoding	Pathogenic
2	166002471	C	A	C166002471A	SCN1A	NM_006920.6(SCN1A):c.4251+1G>T	noncoding	Pathogenic
2	166002473	A	G	A166002473G	SCN1A	NM_001165963.4(SCN1A):c.4283T>C:p.Val1428Ala	coding	Pathogenic
2	166002474	C	A	C166002474A	SCN1A	NM_001165963.4(SCN1A):c.4282G>T:p.Val1428Phe	coding	Pathogenic
2	166002490	A	T	A166002490T	SCN1A	NM_001165963.4(SCN1A):c.4266T>A:p.Tyr1422Ter	coding	Pathogenic
2	166002532	C	T	C166002532T	SCN1A	NM_001165963.4(SCN1A):c.4224G>A:p.Trp1408Ter	coding	Pathogenic
2	166002533	C	T	C166002533T	SCN1A	NM_001165963.4(SCN1A):c.4223G>A:p.Trp1408Ter	coding	Pathogenic
2	166002537	G	A	G166002537A	SCN1A	NM_001165963.4(SCN1A):c.4219C>T:p.Arg1407Ter	coding	Pathogenic
2	166002568	G	T	G166002568T	SCN1A	NM_001165963.4(SCN1A):c.4188C>A:p.Cys1396Ter	coding	Pathogenic
2	166002588	C	G	C166002588G	SCN1A	NM_001165963.4(SCN1A):c.4168G>C:p.Val1390Leu	coding	Pathogenic
2	166002588	C	T	C166002588T	SCN1A	NM_001165963.4(SCN1A):c.4168G>A:p.Val1390Met	coding	Pathogenic
2	166002647	G	A	G166002647A	SCN1A	NM_001165963.4(SCN1A):c.4109C>T:p.Ala1370Val	coding	Pathogenic
2	166002662	C	T	C166002662T	SCN1A	NM_001165963.4(SCN1A):c.4094G>A:p.Gly1365Asp	coding	Pathogenic
2	166002668	A	T	A166002668T	SCN1A	NM_001165963.4(SCN1A):c.4088T>A:p.Ile1363Asn	coding	Pathogenic
2	166002670	G	C	G166002670C	SCN1A	NM_001165963.4(SCN1A):c.4086C>G:p.Ser1362Arg	coding	Pathogenic
2	166002695	C	A	C166002695A	SCN1A	NM_001165963.4(SCN1A):c.4061G>T:p.Cys1354Phe	coding	Pathogenic
2	166002699	C	A	C166002699A	SCN1A	NM_001165963.4(SCN1A):c.4057G>T:p.Val1353Phe	coding	Pathogenic
2	166002699	C	G	C166002699G	SCN1A	NM_001165963.4(SCN1A):c.4057G>C:p.Val1353Leu	coding	Pathogenic
2	166002712	C	T	C166002712T	SCN1A	NM_001165963.4(SCN1A):c.4044G>A:p.Met1348Ile	coding	Pathogenic
2	166002729	C	G	C166002729G	SCN1A	NM_001165963.4(SCN1A):c.4027G>C:p.Ala1343Pro	coding	Pathogenic
2	166002732	C	A	C166002732A	SCN1A	NM_006920.6(SCN1A):c.3991G>T:p.Gly1331Ter	coding	Pathogenic
2	166002740	G	A	G166002740A	SCN1A	NM_001165963.4(SCN1A):c.4016C>T:p.Ala1339Val	coding	Pathogenic
2	166002740	G	T	G166002740T	SCN1A	NM_001165963.4(SCN1A):c.4016C>A:p.Ala1339Asp	coding	Pathogenic
2	166002743	T	G	T166002743G	SCN1A	NM_001165963.4(SCN1A):c.4013A>C:p.Asn1338Thr	coding	Pathogenic
2	166002753	C	T	C166002753T	SCN1A	NM_001165963.4(SCN1A):c.4003G>A:p.Val1335Met	coding	Pathogenic
2	166002754	C	T	C166002754T	SCN1A	NM_006920.6(SCN1A):c.3970-1G>A	coding	Pathogenic
2	166007268	C	G	C166007268G	SCN1A	NM_001165963.4(SCN1A):c.4002+2451G>C	noncoding	Pathogenic
2	166009717	A	G	A166009717G	SCN1A	NM_006920.6(SCN1A):c.3969+2T>C	noncoding	Pathogenic
2	166009718	C	A	C166009718A	SCN1A	NM_001165963.4(SCN1A):c.4002+1G>T	noncoding	Pathogenic
2	166009736	G	A	G166009736A	SCN1A	NM_001165963.4(SCN1A):c.3985C>T:p.Arg1329Ter	coding	Pathogenic
2	166009773	C	T	C166009773T	SCN1A	NM_001165963.4(SCN1A):c.3948G>A:p.Arg1316=	coding	Benign/Likely_benign
2	166009795	A	T	A166009795T	SCN1A	NM_006920.6(SCN1A):c.3893T>A:p.Leu1298His	coding	Pathogenic
2	166009822	G	C	G166009822C	SCN1A	NM_001165963.4(SCN1A):c.3899C>G:p.Thr1300Arg	coding	Pathogenic
2	166009835	A	G	A166009835G	SCN1A	NM_001165963.4(SCN1A):c.3886T>C:p.Leu1296=	coding	Benign/Likely_benign
2	166009842	C	A	C166009842A	SCN1A	NM_006920.6(SCN1A):c.3847-1G>T	coding	Pathogenic
2	166009843	T	C	T166009843C	SCN1A	NM_006920.6(SCN1A):c.3847-2A>G	noncoding	Pathogenic
2	166010179	A	G	A166010179G	SCN1A	NM_006920.6(SCN1A):c.3847-338T>C	noncoding	Benign
2	166012108	C	A	C166012108A	SCN1A	NM_006920.6(SCN1A):c.3846+1G>T	noncoding	Pathogenic
2	166012128	A	G	A166012128G	SCN1A	NM_001165963.4(SCN1A):c.3860T>C:p.Leu1287Pro	coding	Pathogenic
2	166012130	C	T	C166012130T	SCN1A	NM_001165963.4(SCN1A):c.3858G>A:p.Trp1286Ter	coding	Pathogenic
2	166012131	C	T	C166012131T	SCN1A	NM_001165963.4(SCN1A):c.3857G>A:p.Trp1286Ter	coding	Pathogenic
2	166012136	C	T	C166012136T	SCN1A	NM_001165963.4(SCN1A):c.3852G>A:p.Trp1284Ter	coding	Pathogenic
2	166012159	G	A	G166012159A	SCN1A	NM_001165963.4(SCN1A):c.3829C>T:p.Gln1277Ter	coding	Pathogenic
2	166012160	A	T	A166012160T	SCN1A	NM_001165963.4(SCN1A):c.3828T>A:p.Tyr1276Ter	coding	Pathogenic
2	166012166	A	C	A166012166C	SCN1A	NM_001165963.4(SCN1A):c.3822T>G:p.Tyr1274Ter	coding	Pathogenic
2	166012167	T	G	T166012167G	SCN1A	NM_001165963.4(SCN1A):c.3821A>C:p.Tyr1274Ser	coding	Pathogenic
2	166012170	G	A	G166012170A	SCN1A	NM_001165963.4(SCN1A):c.3818C>T:p.Ala1273Val	coding	Pathogenic/Likely_pathogenic
2	166012176	C	T	C166012176T	SCN1A	NM_001165963.4(SCN1A):c.3812G>A:p.Trp1271Ter	coding	Pathogenic
2	166012179	T	G	T166012179G	SCN1A	NM_001165963.4(SCN1A):c.3809A>C:p.Lys1270Thr	coding	Pathogenic
2	166012184	A	G	A166012184G	SCN1A	NM_001165963.4(SCN1A):c.3804T>C:p.Leu1268=	coding	Benign/Likely_benign
2	166012205	G	C	G166012205C	SCN1A	NM_001165963.4(SCN1A):c.3783C>G:p.Tyr1261Ter	coding	Pathogenic
2	166012210	T	G	T166012210G	SCN1A	NM_001165963.4(SCN1A):c.3778A>C:p.Thr1260Pro	coding	Pathogenic
2	166012225	C	G	C166012225G	SCN1A	NM_001165963.4(SCN1A):c.3763G>C:p.Ala1255Pro	coding	Pathogenic
2	166012226	A	T	A166012226T	SCN1A	NM_001165963.4(SCN1A):c.3762T>A:p.Tyr1254Ter	coding	Pathogenic
2	166012231	C	A	C166012231A	SCN1A	NM_001165963.4(SCN1A):c.3757G>T:p.Glu1253Ter	coding	Pathogenic
2	166012254	C	T	C166012254T	SCN1A	NM_001165963.4(SCN1A):c.3734G>A:p.Arg1245Gln	coding	Pathogenic/Likely_pathogenic
2	166012255	G	A	G166012255A	SCN1A	NM_001165963.4(SCN1A):c.3733C>T:p.Arg1245Ter	coding	Pathogenic
2	166012258	G	A	G166012258A	SCN1A	NM_001165963.4(SCN1A):c.3730C>T:p.Gln1244Ter	coding	Pathogenic
2	166012265	A	G	A166012265G	SCN1A	NM_001165963.4(SCN1A):c.3723T>C:p.Tyr1241=	coding	Benign/Likely_benign
2	166012282	C	G	C166012282G	SCN1A	NM_001165963.4(SCN1A):c.3706G>C:p.Ala1236Pro	coding	Pathogenic/Likely_pathogenic
2	166012283	C	G	C166012283G	SCN1A	NM_001165963.4(SCN1A):c.3706-1G>C	coding	Pathogenic
2	166012284	T	A	T166012284A	SCN1A	NM_006920.6(SCN1A):c.3673-2A>T	noncoding	Pathogenic
2	166013732	A	C	A166013732C	SCN1A	NM_006920.6(SCN1A):c.3672+12T>G	noncoding	Benign/Likely_benign
2	166013742	A	T	A166013742T	SCN1A	NM_006920.6(SCN1A):c.3672+2T>A	noncoding	Pathogenic
2	166013743	C	A	C166013743A	SCN1A	NM_006920.6(SCN1A):c.3672+1G>T	noncoding	Pathogenic
2	166013743	C	T	C166013743T	SCN1A	NM_006920.6(SCN1A):c.3672+1G>A	noncoding	Pathogenic
2	166013792	C	T	C166013792T	SCN1A	NM_001165963.4(SCN1A):c.3657G>A:p.Trp1219Ter	coding	Pathogenic
2	166013793	C	T	C166013793T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3656G>A:p.Trp1219Ter	coding	Pathogenic
2	166013812	G	A	G166013812A	SCN1A	NM_001165963.4(SCN1A):c.3637C>T:p.Arg1213Ter	coding	Pathogenic
2	166013820	G	T	G166013820T	SCN1A	NM_001165963.4(SCN1A):c.3629C>A:p.Thr1210Lys	coding	Pathogenic
2	166013834	C	T	C166013834T	SCN1A	NM_001165963.4(SCN1A):c.3615G>A:p.Trp1205Ter	coding	Pathogenic
2	166013838	C	T	C166013838T	SCN1A	NM_001165963.4(SCN1A):c.3611G>A:p.Trp1204Ter	coding	Pathogenic
2	166013839	A	G	A166013839G	SCN1A	NM_001165963.4(SCN1A):c.3610T>C:p.Trp1204Arg	coding	Pathogenic
2	166013842	G	A	G166013842A	SCN1A	NM_001165963.4(SCN1A):c.3607C>T:p.Gln1203Ter	coding	Pathogenic
2	166014144	G	C	G166014144C	SCN1A	NM_006920.6(SCN1A):c.3518-246C>G	noncoding	Benign
2	166015395	C	A	C166015395A	SCN1A	NM_006920.6(SCN1A):c.3517+212G>T	noncoding	Benign
2	166015596	C	A	C166015596A	SCN1A	NM_006920.6(SCN1A):c.3517+11G>T	noncoding	Benign
2	166015605	A	G	A166015605G	SCN1A	NM_006920.6(SCN1A):c.3517+2T>C	noncoding	Pathogenic
2	166015606	C	T	C166015606T	SCN1A	NM_006920.6(SCN1A):c.3517+1G>A	noncoding	Pathogenic
2	166015631	C	A	C166015631A	SCN1A	NM_001165963.4(SCN1A):c.3526G>T:p.Glu1176Ter	coding	Pathogenic
2	166015661	G	A	G166015661A	SCN1A	NM_001165963.4(SCN1A):c.3496C>T:p.Gln1166Ter	coding	Pathogenic
2	166015702	G	T	G166015702T	SCN1A	NM_001165963.4(SCN1A):c.3455C>A:p.Ser1152Ter	coding	Pathogenic
2	166015718	C	A	C166015718A	SCN1A	NM_001165963.4(SCN1A):c.3439G>T:p.Glu1147Ter	coding	Pathogenic
2	166035832	G	C	G166035832C	SCN1A	NM_006920.6(SCN1A):c.3396+216C>G	noncoding	Benign
2	166035836	A	G	A166035836G	SCN1A	NM_006920.6(SCN1A):c.3396+212T>C	noncoding	Benign
2	166036116	C	A	C166036116A	SCN1A	NM_001165963.4(SCN1A):c.3361G>T:p.Glu1121Ter	coding	Pathogenic
2	166036147	A	G	A166036147G	SCN1A	NM_001165963.4(SCN1A):c.3330T>C:p.Ser1110=	coding	Benign/Likely_benign
2	166036166	G	C	G166036166C	SCN1A	NM_006920.6(SCN1A):c.3278C>G:p.Ser1093Ter	coding	Pathogenic
2	166036171	G	T	G166036171T	SCN1A	NM_001165963.4(SCN1A):c.3306C>A:p.Tyr1102Ter	coding	Pathogenic
2	166036182	C	A	C166036182A	SCN1A	NM_001165963.4(SCN1A):c.3295G>T:p.Glu1099Ter	coding	Pathogenic
2	166036278	C	T	C166036278T	SCN1A	NM_001165963.4(SCN1A):c.3199G>A:p.Ala1067Thr	coding	Benign
2	166036294	A	T	A166036294T	SCN1A	NM_001165963.4(SCN1A):c.3183T>A:p.Cys1061Ter	coding	Pathogenic
2	166036371	G	A	G166036371A	SCN1A	NM_001165963.4(SCN1A):c.3106C>T:p.Gln1036Ter	coding	Pathogenic
2	166036384	A	T	A166036384T	SCN1A	NM_001165963.4(SCN1A):c.3093T>A:p.Tyr1031Ter	coding	Pathogenic
2	166036494	A	G	A166036494G	SCN1A	NM_001165963.4(SCN1A):c.2983T>C:p.Phe995Leu	coding	Pathogenic
2	166036521	G	A	G166036521A	SCN1A	NM_001165963.4(SCN1A):c.2956C>T:p.Leu986Phe	coding	Pathogenic
2	166036529	A	T	A166036529T	SCN1A	NM_001165963.4(SCN1A):c.2948T>A:p.Val983Asp	coding	Pathogenic
2	166036530	C	T	C166036530T	SCN1A	NM_001165963.4(SCN1A):c.2947G>A:p.Val983Ile	coding	Pathogenic
2	166036571	G	A	G166036571A	SCN1A	NM_006920.6(SCN1A):c.2914-41C>T	noncoding	Benign
2	166037720	T	C	T166037720C	SCN1A	NM_006920.6(SCN1A):c.2913+56A>G	noncoding	Benign
2	166037757	A	G	A166037757G	SCN1A	NM_006920.6(SCN1A):c.2913+19T>C	noncoding	Benign
2	166037771	C	T	C166037771T	SCN1A	NM_006920.6(SCN1A):c.2913+5G>A	noncoding	Pathogenic
2	166037774	A	C	A166037774C	SCN1A	NM_006920.6(SCN1A):c.2913+2T>G	noncoding	Pathogenic
2	166037775	C	A	C166037775A	SCN1A	NM_006920.6(SCN1A):c.2913+1G>T	noncoding	Pathogenic
2	166037786	C	T	C166037786T	SCN1A	NM_001165963.4(SCN1A):c.2936G>A:p.Gly979Glu	coding	Pathogenic
2	166037787	C	T	C166037787T	SCN1A	NM_001165963.4(SCN1A):c.2935G>A:p.Gly979Arg	coding	Pathogenic
2	166037793	C	T	C166037793T	SCN1A	NM_001165963.4(SCN1A):c.2929G>A:p.Val977Met	coding	Pathogenic
2	166037819	C	A	C166037819A	SCN1A	NM_001165963.4(SCN1A):c.2903G>T:p.Cys968Phe	coding	Pathogenic
2	166037829	G	A	G166037829A	SCN1A	NM_001165963.4(SCN1A):c.2893C>T:p.Gln965Ter	coding	Pathogenic
2	166037833	A	G	A166037833G	SCN1A	NM_001165963.4(SCN1A):c.2889T>C:p.Ala963=	coding	Benign/Likely_benign
2	166037843	A	C	A166037843C	SCN1A	NM_001165963.4(SCN1A):c.2879T>G:p.Met960Arg	coding	Pathogenic
2	166037843	A	G	A166037843G	SCN1A	NM_001165963.4(SCN1A):c.2879T>C:p.Met960Thr	coding	Pathogenic
2	166037845	A	T	A166037845T	SCN1A	NM_001165963.4(SCN1A):c.2877T>A:p.Cys959Ter	coding	Pathogenic
2	166037846	C	T	C166037846T	SCN1A	NM_001165963.4(SCN1A):c.2876G>A:p.Cys959Tyr	coding	Pathogenic
2	166037855	A	G	A166037855G	SCN1A	NM_001165963.4(SCN1A):c.2867T>C:p.Met956Thr	coding	Pathogenic/Likely_pathogenic
2	166037862	C	T	C166037862T	SCN1A	NM_001165963.4(SCN1A):c.2860G>A:p.Glu954Lys	coding	Pathogenic
2	166037868	A	C	A166037868C	SCN1A	NM_001165963.4(SCN1A):c.2854T>G:p.Trp952Gly	coding	Pathogenic
2	166037873	C	T	C166037873T	SCN1A	NM_001165963.4(SCN1A):c.2849G>A:p.Gly950Glu	coding	Pathogenic
2	166037876	C	G	C166037876G	SCN1A	NM_001165963.4(SCN1A):c.2846G>C:p.Cys949Ser	coding	Pathogenic
2	166037885	C	G	C166037885G	SCN1A	NM_001165963.4(SCN1A):c.2837G>C:p.Arg946Pro	coding	Pathogenic
2	166037885	C	T	C166037885T	SCN1A	NM_001165963.4(SCN1A):c.2837G>A:p.Arg946His	coding	Pathogenic
2	166037886	G	A	G166037886A	SCN1A	NM_001165963.4(SCN1A):c.2836C>T:p.Arg946Cys	coding	Pathogenic
2	166037891	A	G	A166037891G	SCN1A	NM_001165963.4(SCN1A):c.2831T>C:p.Val944Ala	coding	Pathogenic
2	166037903	G	A	G166037903A	SCN1A	NM_001165963.4(SCN1A):c.2819C>T:p.Ser940Phe	coding	Pathogenic/Likely_pathogenic
2	166037905	G	T	G166037905T	SCN1A	NM_001165963.4(SCN1A):c.2817C>A:p.His939Gln	coding	Pathogenic
2	166037907	G	A	G166037907A	SCN1A	NM_001165963.4(SCN1A):c.2815C>T:p.His939Tyr	coding	Pathogenic
2	166037916	C	A	C166037916A	SCN1A	NM_001165963.4(SCN1A):c.2806G>T:p.Asp936Tyr	coding	Pathogenic
2	166037920	C	T	C166037920T	SCN1A	NM_001165963.4(SCN1A):c.2802G>A:p.Met934Ile	coding	Pathogenic
2	166037922	T	C	T166037922C	SCN1A	NM_001165963.4(SCN1A):c.2800A>G:p.Met934Val	coding	Pathogenic
2	166037925	G	A	G166037925A	SCN1A	NM_001165963.4(SCN1A):c.2797C>T:p.His933Tyr	coding	Pathogenic
2	166037926	C	T	C166037926T	SCN1A	NM_001165963.4(SCN1A):c.2796G>A:p.Trp932Ter	coding	Pathogenic
2	166037930	C	A	C166037930A	SCN1A	NM_006920.6(SCN1A):c.2759G>T:p.Arg920Leu	coding	Pathogenic
2	166037930	C	G	C166037930G	SCN1A	NM_001165963.4(SCN1A):c.2792G>C:p.Arg931Pro	coding	Pathogenic
2	166037930	C	T	C166037930T	SCN1A	NM_001165963.4(SCN1A):c.2792G>A:p.Arg931His	coding	Pathogenic
2	166037931	G	A	G166037931A	SCN1A	NM_001165963.4(SCN1A):c.2791C>T:p.Arg931Cys	coding	Pathogenic/Likely_pathogenic
2	166037940	G	A	G166037940A	SCN1A	NM_001165963.4(SCN1A):c.2782C>T:p.Gln928Ter	coding	Pathogenic
2	166037942	C	A	C166037942A	SCN1A	NM_001165963.4(SCN1A):c.2780G>T:p.Cys927Phe	coding	Pathogenic
2	166037994	G	T	G166037994T	SCN1A	NM_001165963.4(SCN1A):c.2728C>A:p.Gln910Lys	coding	Pathogenic
2	166038031	C	A	C166038031A	SCN1A	NM_006920.6(SCN1A):c.2658G>T:p.Leu886Phe	coding	Pathogenic
2	166038032	A	G	A166038032G	SCN1A	NM_001165963.4(SCN1A):c.2690T>C:p.Leu897Ser	coding	Pathogenic
2	166038044	A	T	A166038044T	SCN1A	NM_001165963.4(SCN1A):c.2678T>A:p.Leu893Ter	coding	Pathogenic
2	166038053	A	G	A166038053G	SCN1A	NM_001165963.4(SCN1A):c.2669T>C:p.Leu890Pro	coding	Pathogenic
2	166038095	A	C	A166038095C	SCN1A	NM_001165963.4(SCN1A):c.2627T>G:p.Leu876Ter	coding	Pathogenic
2	166038098	G	A	G166038098A	SCN1A	NM_001165963.4(SCN1A):c.2624C>T:p.Thr875Met	coding	Pathogenic/Likely_pathogenic
2	166038107	G	T	G166038107T	SCN1A	NM_001165963.4(SCN1A):c.2615C>A:p.Ser872Tyr	coding	Pathogenic
2	166038129	G	A	G166038129A	SCN1A	NM_001165963.4(SCN1A):c.2593C>T:p.Arg865Ter	coding	Pathogenic
2	166038134	T	C	T166038134C	SCN1A	NM_006920.6(SCN1A):c.2557-2A>G	noncoding	Pathogenic
2	166038417	T	C	T166038417C	SCN1A	NM_006920.6(SCN1A):c.2557-285A>G	noncoding	Benign
2	166039215	T	C	T166039215C	SCN1A	NM_006920.6(SCN1A):c.2556+208A>G	noncoding	Benign
2	166039251	A	G	A166039251G	SCN1A	NM_006920.6(SCN1A):c.2556+172T>C	noncoding	Benign
2	166039309	A	G	A166039309G	SCN1A	NM_006920.6(SCN1A):c.2556+114T>C	noncoding	Benign
2	166039420	T	A	T166039420A	SCN1A	NM_006920.6(SCN1A):c.2556+3A>T	noncoding	Pathogenic
2	166039422	C	A	C166039422A	SCN1A	NM_006920.6(SCN1A):c.2556+1G>T	noncoding	Pathogenic
2	166039424	A	C	A166039424C	SCN1A	NM_001165963.4(SCN1A):c.2588T>G:p.Leu863Trp	coding	Pathogenic
2	166039428	G	A	G166039428A	SCN1A	NM_001165963.4(SCN1A):c.2584C>T:p.Arg862Ter	coding	Pathogenic
2	166039428	G	C	G166039428C	SCN1A	NM_001165963.4(SCN1A):c.2584C>G:p.Arg862Gly	coding	Pathogenic
2	166039433	G	T	G166039433T	SCN1A	NM_001165963.4(SCN1A):c.2579C>A:p.Ser860Ter	coding	Pathogenic
2	166039436	C	T	C166039436T	SCN1A	NM_001165963.4(SCN1A):c.2576G>A:p.Arg859His	coding	Pathogenic
2	166039437	G	A	G166039437A	SCN1A	NM_001165963.4(SCN1A):c.2575C>T:p.Arg859Cys	coding	Pathogenic
2	166039439	A	G	A166039439G	SCN1A	NM_001165963.4(SCN1A):c.2573T>C:p.Leu858Pro	coding	Pathogenic
2	166039475	T	C	T166039475C	SCN1A	NM_001165963.4(SCN1A):c.2537A>G:p.Glu846Gly	coding	Pathogenic
2	166039517	C	T	C166039517T	SCN1A	NM_001165963.4(SCN1A):c.2495G>A:p.Trp832Ter	coding	Pathogenic
2	166039533	A	C	A166039533C	SCN1A	NM_001165963.4(SCN1A):c.2479T>G:p.Tyr827Asp	coding	Pathogenic
2	166039591	G	A	G166039591A	SCN1A	NM_001165963.4(SCN1A):c.2421C>T:p.Phe807=	coding	Benign/Likely_benign
2	166039597	C	T	C166039597T	SCN1A	NM_006920.6(SCN1A):c.2383-1G>A	coding	Pathogenic
2	166039777	T	G	T166039777G	SCN1A	NM_006920.6(SCN1A):c.2383-181A>C	noncoding	Benign
2	166039852	G	A	G166039852A	SCN1A	NM_006920.6(SCN1A):c.2383-256C>T	noncoding	Benign
2	166041230	C	G	C166041230G	SCN1A	NM_006920.6(SCN1A):c.2382+1G>C	noncoding	Pathogenic
2	166041230	C	T	C166041230T	SCN1A	NM_006920.6(SCN1A):c.2382+1G>A	noncoding	Pathogenic
2	166041293	T	C	T166041293C	SCN1A	NM_001165963.4(SCN1A):c.2353A>G:p.Met785Val	coding	Pathogenic/Likely_pathogenic
2	166041343	G	A	G166041343A	SCN1A	NM_001165963.4(SCN1A):c.2303C>T:p.Pro768Leu	coding	Pathogenic
2	166041354	A	G	A166041354G	SCN1A	NM_001165963.4(SCN1A):c.2292T>C:p.Val764=	coding	Benign
2	166041354	A	T	A166041354T	SCN1A	NM_001165963.4(SCN1A):c.2292T>A:p.Val764=	coding	Benign
2	166041380	T	A	T166041380A	SCN1A	NM_006920.6(SCN1A):c.2233A>T:p.Lys745Ter	coding	Pathogenic
2	166041385	C	A	C166041385A	SCN1A	NM_001165963.4(SCN1A):c.2261G>T:p.Trp754Leu	coding	Pathogenic
2	166041385	C	T	C166041385T	SCN1A	NM_001165963.4(SCN1A):c.2261G>A:p.Trp754Ter	coding	Pathogenic
2	166041403	C	T	C166041403T	SCN1A	NM_006920.6(SCN1A):c.2210G>A:p.Trp737Ter	coding	Pathogenic
2	166041432	C	T	C166041432T	SCN1A	NM_006920.6(SCN1A):c.2181G>A:p.Trp727Ter	coding	Pathogenic
2	166041433	C	A	C166041433A	SCN1A	NM_001165963.4(SCN1A):c.2213G>T:p.Trp738Leu	coding	Pathogenic
2	166041433	C	T	C166041433T	SCN1A	NM_001165963.4(SCN1A):c.2213G>A:p.Trp738Ter	coding	Pathogenic
2	166041470	C	A	C166041470A	SCN1A	NM_006920.6(SCN1A):c.2144-1G>T	coding	Pathogenic
2	166041479	G	A	G166041479A	SCN1A	NM_006920.6(SCN1A):c.2144-10C>T	noncoding	Benign
2	166041507	G	T	G166041507T	SCN1A	NM_006920.6(SCN1A):c.2144-38C>A	noncoding	Benign
2	166041739	T	C	T166041739C	SCN1A	NM_006920.6(SCN1A):c.2144-270A>G	noncoding	Benign
2	166042275	T	C	T166042275C	SCN1A	NM_006920.6(SCN1A):c.2143+17A>G	noncoding	Benign
2	166042289	A	T	A166042289T	SCN1A	NM_006920.6(SCN1A):c.2143+3T>A	noncoding	Pathogenic
2	166042334	G	A	G166042334A	SCN1A	NM_001165963.4(SCN1A):c.2134C>T:p.Arg712Ter	coding	Pathogenic
2	166042337	G	A	G166042337A	SCN1A	NM_006920.6(SCN1A):c.2098C>T:p.Gln700Ter	coding	Pathogenic
2	166042397	T	A	T166042397A	SCN1A	NM_001165963.4(SCN1A):c.2071A>T:p.Lys691Ter	coding	Pathogenic
2	166042425	C	T	C166042425T	SCN1A	NM_001165963.4(SCN1A):c.2044-1G>A	coding	Pathogenic
2	166042444	T	C	T166042444C	SCN1A	NM_006920.6(SCN1A):c.2011-20A>G	noncoding	Benign
2	166042592	T	A	T166042592A	SCN1A	NM_006920.6(SCN1A):c.2011-168A>T	noncoding	Benign
2	166043368	G	A	G166043368A	SCN1A	NM_006920.6(SCN1A):c.2010+334C>T	noncoding	Benign
2	166043562	C	T	C166043562T	SCN1A	NM_006920.6(SCN1A):c.2010+140G>A	noncoding	Benign
2	166043742	G	A	G166043742A	SCN1A	NM_001165963.4(SCN1A):c.1970C>T:p.Pro657Leu	coding	Pathogenic
2	166043754	A	T	A166043754T	SCN1A	NM_001165963.4(SCN1A):c.1958T>A:p.Leu653Ter	coding	Pathogenic
2	166043829	G	T	G166043829T	SCN1A	NM_001165963.4(SCN1A):c.1883C>A:p.Ser628Ter	coding	Pathogenic
2	166043836	T	C	T166043836C	SCN1A	NM_001165963.4(SCN1A):c.1876A>G:p.Ser626Gly	coding	Pathogenic
2	166043864	C	G	C166043864G	SCN1A	NM_001165963.4(SCN1A):c.1848G>C:p.Glu616Asp	coding	Pathogenic
2	166043869	C	A	C166043869A	SCN1A	NM_001165963.4(SCN1A):c.1843G>T:p.Gly615Ter	coding	Pathogenic
2	166043875	G	A	G166043875A	SCN1A	NM_001165963.4(SCN1A):c.1837C>T:p.Arg613Ter	coding	Pathogenic
2	166043878	G	A	G166043878A	SCN1A	NM_001165963.4(SCN1A):c.1834C>T:p.Arg612Ter	coding	Pathogenic
2	166043901	C	T	C166043901T	SCN1A	NM_001165963.4(SCN1A):c.1811G>A:p.Arg604His	coding	Benign/Likely_benign
2	166043908	C	A	C166043908A	SCN1A	NM_001165963.4(SCN1A):c.1804G>T:p.Glu602Ter	coding	Pathogenic
2	166043917	C	A	C166043917A	SCN1A	NM_001165963.4(SCN1A):c.1795G>T:p.Glu599Ter	coding	Pathogenic
2	166043974	G	A	G166043974A	SCN1A	NM_001165963.4(SCN1A):c.1738C>T:p.Arg580Ter	coding	Pathogenic
2	166044010	G	A	G166044010A	SCN1A	NM_001165963.4(SCN1A):c.1702C>T:p.Arg568Ter	coding	Pathogenic
2	166044051	T	G	T166044051G	SCN1A	NM_006920.6(SCN1A):c.1663-2A>C	noncoding	Pathogenic
2	166044052	A	G	A166044052G	SCN1A	NM_006920.6(SCN1A):c.1663-3T>C	noncoding	Benign
2	166044096	A	C	A166044096C	SCN1A	NM_006920.6(SCN1A):c.1663-47T>G	noncoding	Benign
2	166045034	G	T	G166045034T	SCN1A	NM_006920.6(SCN1A):c.1662+9C>A	noncoding	Benign/Likely_benign
2	166045040	T	C	T166045040C	SCN1A	NM_006920.6(SCN1A):c.1662+3A>G	noncoding	Pathogenic
2	166045041	A	G	A166045041G	SCN1A	NM_006920.6(SCN1A):c.1662+2T>C	noncoding	Pathogenic
2	166045042	C	A	C166045042A	SCN1A	NM_006920.6(SCN1A):c.1662+1G>T	noncoding	Pathogenic
2	166045042	C	T	C166045042T	SCN1A	NM_006920.6(SCN1A):c.1662+1G>A	noncoding	Pathogenic
2	166045043	C	G	C166045043G	SCN1A	NM_001165963.4(SCN1A):c.1662G>C:p.Gln554His	coding	Pathogenic
2	166045043	C	T	C166045043T	SCN1A	NM_001165963.4(SCN1A):c.1662G>A:p.Gln554=	coding	Pathogenic
2	166045081	G	A	G166045081A	SCN1A	NM_001165963.4(SCN1A):c.1624C>T:p.Arg542Ter	coding	Pathogenic
2	166045081	G	T	G166045081T	SCN1A	NM_001165963.4(SCN1A):c.1624C>A:p.Arg542=	coding	Benign/Likely_benign
2	166045156	C	A	C166045156A	SCN1A	NM_001165963.4(SCN1A):c.1549G>T:p.Glu517Ter	coding	Pathogenic
2	166045162	T	A	T166045162A	SCN1A	NM_006920.6(SCN1A):c.1543A>T:p.Lys515Ter	coding	Pathogenic
2	166045166	T	C	T166045166C	SCN1A	NM_001165963.4(SCN1A):c.1539A>G:p.Glu513=	coding	Benign
2	166045189	G	A	G166045189A	SCN1A	NM_001165963.4(SCN1A):c.1516C>T:p.Gln506Ter	coding	Pathogenic
2	166045327	G	A	G166045327A	SCN1A	NM_001165963.4(SCN1A):c.1378C>T:p.Gln460Ter	coding	Pathogenic
2	166045593	A	T	A166045593T	SCN1A	NM_006920.6(SCN1A):c.1378-266T>A	noncoding	Benign
2	166046718	C	T	C166046718T	SCN1A	NM_006920.6(SCN1A):c.1377+52G>A	noncoding	Benign
2	166046760	G	A	G166046760A	SCN1A	NM_006920.6(SCN1A):c.1377+10C>T	noncoding	Benign
2	166046769	C	G	C166046769G	SCN1A	NM_006920.6(SCN1A):c.1377+1G>C	noncoding	Pathogenic
2	166046793	T	A	T166046793A	SCN1A	NM_001165963.4(SCN1A):c.1354A>T:p.Lys452Ter	coding	Pathogenic
2	166046799	G	A	G166046799A	SCN1A	NM_001165963.4(SCN1A):c.1348C>T:p.Gln450Ter	coding	Pathogenic
2	166046802	C	A	C166046802A	SCN1A	NM_001165963.4(SCN1A):c.1345G>T:p.Glu449Ter	coding	Pathogenic
2	166046841	C	A	C166046841A	SCN1A	NM_001165963.4(SCN1A):c.1306G>T:p.Glu436Ter	coding	Pathogenic
2	166046862	G	A	G166046862A	SCN1A	NM_001165963.4(SCN1A):c.1285C>T:p.Gln429Ter	coding	Pathogenic
2	166046869	G	C	G166046869C	SCN1A	NM_001165963.4(SCN1A):c.1278C>G:p.Tyr426Ter	coding	Pathogenic
2	166046869	G	T	G166046869T	SCN1A	NM_001165963.4(SCN1A):c.1278C>A:p.Tyr426Ter	coding	Pathogenic
2	166046870	T	C	T166046870C	SCN1A	NM_001165963.4(SCN1A):c.1277A>G:p.Tyr426Cys	coding	Pathogenic
2	166046882	A	G	A166046882G	SCN1A	NM_001165963.4(SCN1A):c.1265T>C:p.Val422Ala	coding	Pathogenic
2	166046888	G	A	G166046888A	SCN1A	NM_001165963.4(SCN1A):c.1259C>T:p.Ala420Val	coding	Pathogenic
2	166046910	A	T	A166046910T	SCN1A	NM_001165963.4(SCN1A):c.1237T>A:p.Tyr413Asn	coding	Pathogenic
2	166046935	T	C	T166046935C	SCN1A	NM_001165963.4(SCN1A):c.1212A>G:p.Val404=	coding	Benign
2	166046948	A	T	A166046948T	SCN1A	NM_001165963.4(SCN1A):c.1199T>A:p.Met400Lys	coding	Pathogenic
2	166046952	A	C	A166046952C	SCN1A	NM_001165963.4(SCN1A):c.1195T>G:p.Tyr399Asp	coding	Pathogenic
2	166046969	C	G	C166046969G	SCN1A	NM_001165963.4(SCN1A):c.1178G>C:p.Arg393Pro	coding	Pathogenic
2	166046969	C	T	C166046969T	SCN1A	NM_001165963.4(SCN1A):c.1178G>A:p.Arg393His	coding	Pathogenic/Likely_pathogenic
2	166046970	G	A	G166046970A	SCN1A	NM_001165963.4(SCN1A):c.1177C>T:p.Arg393Cys	coding	Pathogenic
2	166046970	G	T	G166046970T	SCN1A	NM_001165963.4(SCN1A):c.1177C>A:p.Arg393Ser	coding	Pathogenic
2	166047150	T	C	T166047150C	SCN1A	NM_006920.6(SCN1A):c.1171-174A>G	noncoding	Benign
2	166047246	C	A	C166047246A	SCN1A	NM_006920.6(SCN1A):c.1171-270G>T	noncoding	Benign
2	166047515	G	A	G166047515A	SCN1A	NM_006920.6(SCN1A):c.1170+112C>T	noncoding	Benign
2	166047552	G	T	G166047552T	SCN1A	NM_006920.6(SCN1A):c.1170+75C>A	noncoding	Benign
2	166047622	C	T	C166047622T	SCN1A	NM_006920.6(SCN1A):c.1170+5G>A	noncoding	Pathogenic
2	166047626	C	A	C166047626A	SCN1A	NM_006920.6(SCN1A):c.1170+1G>T	noncoding	Pathogenic
2	166047626	C	T	C166047626T	SCN1A	NM_006920.6(SCN1A):c.1170+1G>A	noncoding	Pathogenic
2	166047627	C	T	C166047627T	SCN1A	NM_001165963.4(SCN1A):c.1170G>A:p.Leu390=	coding	Pathogenic
2	166047635	A	G	A166047635G	SCN1A	NM_001165963.4(SCN1A):c.1162T>C:p.Tyr388His	coding	Pathogenic
2	166047644	C	G	C166047644G	SCN1A	NM_001165963.4(SCN1A):c.1153G>C:p.Glu385Gln	coding	Pathogenic
2	166047646	C	T	C166047646T	SCN1A	NM_001165963.4(SCN1A):c.1151G>A:p.Trp384Ter	coding	Pathogenic
2	166047647	A	T	A166047647T	SCN1A	NM_001165963.4(SCN1A):c.1150T>A:p.Trp384Arg	coding	Pathogenic/Likely_pathogenic
2	166047651	G	T	G166047651T	SCN1A	NM_001165963.4(SCN1A):c.1146C>A:p.Asp382Glu	coding	Pathogenic
2	166047661	A	T	A166047661T	SCN1A	NM_001165963.4(SCN1A):c.1136T>A:p.Met379Lys	coding	Pathogenic
2	166047668	G	A	G166047668A	SCN1A	NM_001165963.4(SCN1A):c.1129C>T:p.Arg377Ter	coding	Pathogenic
2	166047679	A	T	A166047679T	SCN1A	NM_001165963.4(SCN1A):c.1118T>A:p.Leu373Ter	coding	Pathogenic
2	166047721	T	A	T166047721A	SCN1A	NM_001165963.4(SCN1A):c.1076A>T:p.Asn359Ile	coding	Pathogenic
2	166047725	G	A	G166047725A	SCN1A	NM_001165963.4(SCN1A):c.1072C>T:p.Pro358Ser	coding	Pathogenic
2	166047732	A	G	A166047732G	SCN1A	NM_001165963.4(SCN1A):c.1065T>C:p.Gly355=	coding	Benign/Likely_benign
2	166047749	T	C	T166047749C	SCN1A	NM_001165963.4(SCN1A):c.1048A>G:p.Met350Val	coding	Pathogenic
2	166047750	A	C	A166047750C	SCN1A	NM_006920.6(SCN1A):c.1047T>G:p.Tyr349Ter	coding	Pathogenic
2	166047751	T	C	T166047751C	SCN1A	NM_001165963.4(SCN1A):c.1046A>G:p.Tyr349Cys	coding	Pathogenic
2	166047763	C	A	C166047763A	SCN1A	NM_001165963.4(SCN1A):c.1034G>T:p.Cys345Phe	coding	Pathogenic
2	166047763	C	T	C166047763T	SCN1A	NM_006920.6(SCN1A):c.1034G>A:p.Cys345Tyr	coding	Pathogenic
2	166047764	A	G	A166047764G	SCN1A	NM_001165963.4(SCN1A):c.1033T>C:p.Cys345Arg	coding	Pathogenic
2	166047769	C	G	C166047769G	SCN1A	NM_006920.6(SCN1A):c.1029-1G>C	coding	Pathogenic
2	166047836	G	A	G166047836A	SCN1A	NM_006920.6(SCN1A):c.1029-68C>T	noncoding	Benign
2	166047945	G	A	G166047945A	SCN1A	NM_006920.6(SCN1A):c.1029-177C>T	noncoding	Benign
2	166048774	G	T	G166048774T	SCN1A	NM_006920.6(SCN1A):c.1028+112C>A	noncoding	Benign
2	166048865	A	G	A166048865G	SCN1A	NM_006920.6(SCN1A):c.1028+21T>C	noncoding	Benign
2	166048884	A	G	A166048884G	SCN1A	NM_001165963.4(SCN1A):c.1028+2T>C	noncoding	Pathogenic
2	166048885	C	A	C166048885A	SCN1A	NM_006920.6(SCN1A):c.1028+1G>T	noncoding	Pathogenic
2	166048885	C	T	C166048885T	SCN1A	NM_006920.6(SCN1A):c.1028+1G>A	noncoding	Pathogenic
2	166048889	G	A	G166048889A	SCN1A	NM_001165963.4(SCN1A):c.1025C>T:p.Ala342Val	coding	Pathogenic
2	166048890	C	A	C166048890A	SCN1A	NM_001165963.4(SCN1A):c.1024G>T:p.Ala342Ser	coding	Pathogenic
2	166048907	C	T	C166048907T	SCN1A	NM_001165963.4(SCN1A):c.1007G>A:p.Cys336Tyr	coding	Pathogenic
2	166048929	C	A	C166048929A	SCN1A	NM_001165963.4(SCN1A):c.985G>T:p.Gly329Cys	coding	Pathogenic/Likely_pathogenic
2	166048940	T	C	T166048940C	SCN1A	NM_006920.6(SCN1A):c.974A>G:p.Tyr325Cys	coding	Pathogenic
2	166048950	C	T	C166048950T	SCN1A	NM_006920.6(SCN1A):c.965-1G>A	coding	Pathogenic/Likely_pathogenic
2	166048970	G	A	G166048970A	SCN1A	NM_006920.6(SCN1A):c.965-21C>T	noncoding	Benign
2	166049062	T	A	T166049062A	SCN1A	NM_006920.6(SCN1A):c.965-113A>T	noncoding	Benign
2	166049164	A	G	A166049164G	SCN1A	NM_006920.6(SCN1A):c.965-215T>C	noncoding	Benign
2	166049259	C	G	C166049259G	SCN1A	NM_006920.6(SCN1A):c.965-310G>C	noncoding	Benign
2	166051461	C	T	C166051461T	SCN1A	NM_006920.6(SCN1A):c.964+258G>A	noncoding	Benign
2	166051678	A	T	A166051678T	SCN1A	NM_006920.6(SCN1A):c.964+41T>A	noncoding	Benign
2	166051705	A	C	A166051705C	SCN1A	NM_006920.6(SCN1A):c.964+14T>G	noncoding	Pathogenic
2	166051718	C	G	C166051718G	SCN1A	NM_001165963.4(SCN1A):c.964+1G>C	noncoding	Pathogenic
2	166051718	C	T	C166051718T	SCN1A	NM_006920.6(SCN1A):c.964+1G>A	noncoding	Pathogenic
2	166051841	G	A	G166051841A	SCN1A	NM_001165963.4(SCN1A):c.842C>T:p.Pro281Leu	coding	Pathogenic
2	166051841	G	C	G166051841C	SCN1A	NM_006920.6(SCN1A):c.842C>G:p.Pro281Arg	coding	Pathogenic
2	166051844	C	T	C166051844T	SCN1A	NM_001165963.4(SCN1A):c.839G>A:p.Trp280Ter	coding	Pathogenic
2	166051845	A	G	A166051845G	SCN1A	NM_001165963.4(SCN1A):c.838T>C:p.Trp280Arg	coding	Pathogenic
2	166051857	T	G	T166051857G	SCN1A	NM_001165963.4(SCN1A):c.826A>C:p.Lys276Gln	coding	Pathogenic
2	166051906	G	T	G166051906T	SCN1A	NM_001165963.4(SCN1A):c.777C>A:p.Ser259Arg	coding	Pathogenic
2	166051914	A	G	A166051914G	SCN1A	NM_001165963.4(SCN1A):c.769T>C:p.Cys257Arg	coding	Pathogenic/Likely_pathogenic
2	166051936	A	C	A166051936C	SCN1A	NM_001165963.4(SCN1A):c.747T>G:p.Asp249Glu	coding	Pathogenic
2	166051944	G	C	G166051944C	SCN1A	NM_001165963.4(SCN1A):c.739C>G:p.Leu247Val	coding	Pathogenic
2	166051955	G	T	G166051955T	SCN1A	NM_001165963.4(SCN1A):c.728C>A:p.Ser243Tyr	coding	Pathogenic
2	166051967	G	A	G166051967A	SCN1A	NM_001165963.4(SCN1A):c.716C>T:p.Ala239Val	coding	Pathogenic
2	166051967	G	C	G166051967C	SCN1A	NM_001165963.4(SCN1A):c.716C>G:p.Ala239Gly	coding	Pathogenic
2	166051968	C	T	C166051968T	SCN1A	NM_001165963.4(SCN1A):c.715G>A:p.Ala239Thr	coding	Pathogenic
2	166051976	A	G	A166051976G	SCN1A	NM_001165963.4(SCN1A):c.707T>C:p.Ile236Thr	coding	Pathogenic
2	166052594	C	T	C166052594T	SCN1A	NM_006920.6(SCN1A):c.694+258G>A	noncoding	Benign
2	166052668	C	T	C166052668T	SCN1A	NM_006920.6(SCN1A):c.694+184G>A	noncoding	Benign
2	166052847	C	T	C166052847T	SCN1A	NM_006920.6(SCN1A):c.694+5G>A	noncoding	Pathogenic
2	166052866	A	C	A166052866C	SCN1A	NM_001165963.4(SCN1A):c.680T>G:p.Ile227Ser	coding	Pathogenic
2	166052869	G	A	G166052869A	SCN1A	NM_001165963.4(SCN1A):c.677C>T:p.Thr226Met	coding	Pathogenic
2	166052869	G	C	G166052869C	SCN1A	NM_001165963.4(SCN1A):c.677C>G:p.Thr226Arg	coding	Pathogenic
2	166052871	C	G	C166052871G	SCN1A	NM_001165963.4(SCN1A):c.675G>C:p.Lys225Asn	coding	Pathogenic
2	166052882	G	A	G166052882A	SCN1A	NM_001165963.4(SCN1A):c.664C>T:p.Arg222Ter	coding	Pathogenic/Likely_pathogenic
2	166052884	A	G	A166052884G	SCN1A	NM_001165963.4(SCN1A):c.662T>C:p.Leu221Pro	coding	Pathogenic
2	166052902	A	T	A166052902T	SCN1A	NM_001165963.4(SCN1A):c.644T>A:p.Leu215Ter	coding	Pathogenic
2	166052944	C	T	C166052944T	SCN1A	NM_006920.6(SCN1A):c.603-1G>A	coding	Pathogenic
2	166052945	T	C	T166052945C	SCN1A	NM_006920.6(SCN1A):c.603-2A>G	noncoding	Pathogenic
2	166053049	C	A	C166053049A	SCN1A	NM_006920.6(SCN1A):c.603-106G>T	noncoding	Benign
2	166053185	A	G	A166053185G	SCN1A	NM_006920.6(SCN1A):c.603-242T>C	noncoding	Benign
2	166054635	T	G	T166054635G	SCN1A	NM_006920.6(SCN1A):c.602+3A>C	noncoding	Pathogenic
2	166054637	C	A	C166054637A	SCN1A	NM_006920.6(SCN1A):c.602+1G>T	noncoding	Pathogenic
2	166054637	C	G	C166054637G	SCN1A	NM_006920.6(SCN1A):c.602+1G>C	noncoding	Pathogenic
2	166054637	C	T	C166054637T	SCN1A	NM_006920.6(SCN1A):c.602+1G>A	noncoding	Pathogenic
2	166054660	C	A	C166054660A	SCN1A	NM_001165963.4(SCN1A):c.580G>T:p.Asp194Tyr	coding	Pathogenic
2	166054660	C	T	C166054660T	SCN1A	NM_001165963.4(SCN1A):c.580G>A:p.Asp194Asn	coding	Pathogenic
2	166054664	C	T	C166054664T	SCN1A	NM_001165963.4(SCN1A):c.576G>A:p.Trp192Ter	coding	Pathogenic
2	166054665	C	T	C166054665T	SCN1A	NM_006920.6(SCN1A):c.575G>A:p.Trp192Ter	coding	Pathogenic
2	166054672	A	G	A166054672G	SCN1A	NM_001165963.4(SCN1A):c.568T>C:p.Trp190Arg	coding	Pathogenic
2	166054701	A	T	A166054701T	SCN1A	NM_001165963.4(SCN1A):c.539T>A:p.Leu180Ter	coding	Pathogenic
2	166054710	C	A	C166054710A	SCN1A	NM_001165963.4(SCN1A):c.530G>T:p.Gly177Val	coding	Pathogenic
2	166054710	C	T	C166054710T	SCN1A	NM_001165963.4(SCN1A):c.530G>A:p.Gly177Glu	coding	Pathogenic
2	166054717	C	T	C166054717T	SCN1A	NM_001165963.4(SCN1A):c.523G>A:p.Ala175Thr	coding	Pathogenic
2	166054753	C	A	C166054753A	SCN1A	NM_001165963.4(SCN1A):c.487G>T:p.Gly163Ter	coding	Pathogenic
2	166054767	C	T	C166054767T	SCN1A	NM_001165963.4(SCN1A):c.474-1G>A	coding	Pathogenic
2	166054879	A	G	A166054879G	SCN1A	NM_006920.6(SCN1A):c.474-113T>C	noncoding	Benign
2	166055076	T	C	T166055076C	SCN1A	NM_006920.6(SCN1A):c.474-310A>G	noncoding	Benign
2	166056247	C	T	C166056247T	SCN1A	NM_006920.6(SCN1A):c.473+164G>A	noncoding	Benign
2	166056410	C	G	C166056410G	SCN1A	NM_006920.6(SCN1A):c.473+1G>C	noncoding	Pathogenic
2	166056425	C	T	C166056425T	SCN1A	NM_001165963.4(SCN1A):c.459G>A:p.Trp153Ter	coding	Pathogenic
2	166056450	A	G	A166056450G	SCN1A	NM_001165963.4(SCN1A):c.434T>C:p.Met145Thr	coding	Pathogenic
2	166056450	A	T	A166056450T	SCN1A	NM_001165963.4(SCN1A):c.434T>A:p.Met145Lys	coding	Pathogenic
2	166056451	T	C	T166056451C	SCN1A	NM_001165963.4(SCN1A):c.433A>G:p.Met145Val	coding	Pathogenic
2	166056501	G	C	G166056501C	SCN1A	NM_006920.6(SCN1A):c.384-1C>G	noncoding	Pathogenic
2	166056520	C	G	C166056520G	SCN1A	NM_006920.6(SCN1A):c.384-20G>C	noncoding	Benign
2	166058385	A	G	A166058385G	SCN1A	NM_006920.6(SCN1A):c.383+185T>C	noncoding	Benign
2	166058504	A	G	A166058504G	SCN1A	NM_006920.6(SCN1A):c.383+66T>C	noncoding	Benign
2	166058569	T	C	T166058569C	SCN1A	NM_006920.6(SCN1A):c.383+1A>G	coding	Pathogenic
2	166058573	T	A	T166058573A	SCN1A	NM_001165963.4(SCN1A):c.380A>T:p.His127Leu	coding	Pathogenic
2	166058599	C	A	C166058599A	SCN1A	NM_001165963.4(SCN1A):c.354G>T:p.Arg118Ser	coding	Pathogenic/Likely_pathogenic
2	166058603	A	G	A166058603G	SCN1A	NM_001165963.4(SCN1A):c.350T>C:p.Leu117Pro	coding	Pathogenic/Likely_pathogenic
2	166058608	A	G	A166058608G	SCN1A	NM_001165963.4(SCN1A):c.345T>C:p.Asn115=	coding	Benign/Likely_benign
2	166058608	A	T	A166058608T	SCN1A	NM_001165963.4(SCN1A):c.345T>A:p.Asn115Lys	coding	Pathogenic
2	166058615	G	A	G166058615A	SCN1A	NM_006920.6(SCN1A):c.338C>T:p.Pro113Leu	coding	Pathogenic
2	166058616	G	T	G166058616T	SCN1A	NM_001165963.4(SCN1A):c.337C>A:p.Pro113Thr	coding	Pathogenic
2	166058626	G	C	G166058626C	SCN1A	NM_001165963.4(SCN1A):c.327C>G:p.Tyr109Ter	coding	Pathogenic
2	166058630	A	G	A166058630G	SCN1A	NM_001165963.4(SCN1A):c.323T>C:p.Leu108Pro	coding	Pathogenic
2	166058639	G	A	G166058639A	SCN1A	NM_001165963.4(SCN1A):c.314C>T:p.Thr105Ile	coding	Pathogenic
2	166058645	C	A	C166058645A	SCN1A	NM_001165963.4(SCN1A):c.308G>T:p.Ser103Ile	coding	Pathogenic
2	166058651	C	A	C166058651A	SCN1A	NM_001165963.4(SCN1A):c.302G>T:p.Arg101Leu	coding	Pathogenic
2	166058651	C	T	C166058651T	SCN1A	NM_001165963.4(SCN1A):c.302G>A:p.Arg101Gln	coding	Pathogenic
2	166058652	G	A	G166058652A	SCN1A	NM_001165963.4(SCN1A):c.301C>T:p.Arg101Trp	coding	Pathogenic
2	166058684	A	G	A166058684G	SCN1A	NM_001165963.4(SCN1A):c.269T>C:p.Phe90Ser	coding	Pathogenic/Likely_pathogenic
2	166058689	C	T	C166058689T	SCN1A	NM_006920.6(SCN1A):c.265-1G>A	coding	Pathogenic
2	166058692	T	C	T166058692C	SCN1A	NM_006920.6(SCN1A):c.265-4A>G	noncoding	Benign/Likely_benign
2	166058825	C	A	C166058825A	SCN1A	NM_006920.6(SCN1A):c.265-137G>T	noncoding	Benign
2	166073353	C	G	C166073353G	SCN1A	NM_006920.6(SCN1A):c.264+5G>C	noncoding	Pathogenic
2	166073353	C	T	C166073353T	SCN1A	NM_006920.6(SCN1A):c.264+5G>A	noncoding	Pathogenic/Likely_pathogenic
2	166073371	T	C	T166073371C	SCN1A	NM_001165963.4(SCN1A):c.251A>G:p.Tyr84Cys	coding	Pathogenic/Likely_pathogenic
2	166073373	G	T	G166073373T	SCN1A	NM_001165963.4(SCN1A):c.249C>A:p.Tyr83Ter	coding	Pathogenic
2	166073387	C	T	C166073387T	SCN1A	NM_001165963.4(SCN1A):c.235G>A:p.Asp79Asn	coding	Pathogenic
2	166073501	T	A	T166073501A	SCN1A	NM_001165963.4(SCN1A):c.121A>T:p.Lys41Ter	coding	Pathogenic
2	166073552	C	T	C166073552T	SCN1A	NM_001165963.4(SCN1A):c.70G>A:p.Ala24Thr	coding	Pathogenic
2	166073554	G	A	G166073554A	SCN1A	NM_001165963.4(SCN1A):c.68C>T:p.Ala23Val	coding	Benign/Likely_benign
2	166073619	C	T	C166073619T	SCN1A	NM_001165963.4(SCN1A):c.3G>A:p.Met1Ile	coding	Pathogenic
2	166073620	A	G	A166073620G	SCN1A	NM_001165963.4(SCN1A):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
2	166195355	T	C	T166195355C	SCN9A	NM_001365536.1(SCN9A):c.*3317A>G	noncoding	Benign/Likely_benign
2	166195634	G	A	G166195634A	SCN9A	NM_001365536.1(SCN9A):c.*3038C>T	noncoding	Benign/Likely_benign
2	166196132	G	A	G166196132A	SCN9A	NM_001365536.1(SCN9A):c.*2540C>T	noncoding	Benign
2	166196349	C	A	C166196349A	SCN9A	NM_001365536.1(SCN9A):c.*2323G>T	noncoding	Benign/Likely_benign
2	166196360	T	A	T166196360A	SCN9A	NM_001365536.1(SCN9A):c.*2312A>T	noncoding	Benign/Likely_benign
2	166196375	T	A	T166196375A	SCN9A	NM_001365536.1(SCN9A):c.*2297A>T	noncoding	Benign
2	166196460	A	G	A166196460G	SCN9A	NM_001365536.1(SCN9A):c.*2212T>C	noncoding	Benign/Likely_benign
2	166196517	C	T	C166196517T	SCN9A	NM_001365536.1(SCN9A):c.*2155G>A	noncoding	Benign/Likely_benign
2	166196518	G	C	G166196518C	SCN9A	NM_001365536.1(SCN9A):c.*2154C>G	noncoding	Benign
2	166196526	C	G	C166196526G	SCN9A	NM_001365536.1(SCN9A):c.*2146G>C	noncoding	Benign
2	166196536	G	C	G166196536C	SCN9A	NM_001365536.1(SCN9A):c.*2136C>G	noncoding	Benign
2	166196876	G	A	G166196876A	SCN9A	NM_001365536.1(SCN9A):c.*1796C>T	noncoding	Benign
2	166196898	C	T	C166196898T	SCN9A	NM_001365536.1(SCN9A):c.*1774G>A	noncoding	Benign
2	166197012	C	T	C166197012T	SCN9A	NM_001365536.1(SCN9A):c.*1660G>A	noncoding	Benign
2	166197180	G	C	G166197180C	SCN9A	NM_001365536.1(SCN9A):c.*1492C>G	noncoding	Benign
2	166197488	A	C	A166197488C	SCN9A	NM_001365536.1(SCN9A):c.*1184T>G	noncoding	Benign
2	166197659	G	A	G166197659A	SCN9A	NM_001365536.1(SCN9A):c.*1013C>T	noncoding	Benign
2	166197714	G	A	G166197714A	SCN9A	NM_001365536.1(SCN9A):c.*958C>T	noncoding	Benign/Likely_benign
2	166197752	A	T	A166197752T	SCN9A	NM_001365536.1(SCN9A):c.*920T>A	noncoding	Benign/Likely_benign
2	166198295	G	C	G166198295C	SCN9A	NM_001365536.1(SCN9A):c.*377C>G	noncoding	Benign/Likely_benign
2	166198310	G	A	G166198310A	SCN9A	NM_001365536.1(SCN9A):c.*362C>T	noncoding	Benign/Likely_benign
2	166198435	G	C	G166198435C	SCN9A	NM_001365536.1(SCN9A):c.*237C>G	noncoding	Benign
2	166198437	A	G	A166198437G	SCN9A	NM_001365536.1(SCN9A):c.*235T>C	noncoding	Benign/Likely_benign
2	166198468	C	T	C166198468T	SCN9A	NM_001365536.1(SCN9A):c.*204G>A	noncoding	Benign/Likely_benign
2	166198543	G	A	G166198543A	SCN9A	NM_001365536.1(SCN9A):c.*129C>T	noncoding	Benign
2	166198547	G	A	G166198547A	SCN9A	NM_001365536.1(SCN9A):c.*125C>T	noncoding	Benign/Likely_benign
2	166198654	T	C	T166198654C	SCN9A	NM_001365536.1(SCN9A):c.*18A>G	noncoding	Benign/Likely_benign
2	166198860	G	A	G166198860A	SCN9A	NM_001365536.1(SCN9A):c.5779C>T:p.Leu1927Phe	coding	Benign/Likely_benign
2	166198883	T	C	T166198883C	SCN9A	NM_001365536.1(SCN9A):c.5756A>G:p.Asp1919Gly	coding	Benign
2	166199394	G	A	G166199394A	SCN9A	NM_001365536.1(SCN9A):c.5245C>T:p.Leu1749=	coding	Benign
2	166199711	G	T	G166199711T	SCN9A	NM_001365536.1(SCN9A):c.4928C>A:p.Ala1643Glu	coding	Pathogenic
2	166199827	C	A	C166199827A	SCN9A	NM_001365536.1(SCN9A):c.4812G>T:p.Val1604=	coding	Benign
2	166203939	A	T	A166203939T	SCN9A	NM_001365536.1(SCN9A):c.4774+16T>A	noncoding	Benign
2	166203996	C	T	C166203996T	SCN9A	NM_001365536.1(SCN9A):c.4733G>A:p.Trp1578Ter	coding	Pathogenic/Likely_pathogenic
2	166204359	C	A	C166204359A	SCN9A	NM_001365536.1(SCN9A):c.4503+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	166204368	G	A	G166204368A	SCN9A	NM_001365536.1(SCN9A):c.4495C>T:p.Arg1499Ter	coding	Pathogenic
2	166204439	G	A	G166204439A	SCN9A	NM_001365536.1(SCN9A):c.4424C>T:p.Thr1475Ile	coding	Pathogenic
2	166204446	A	C	A166204446C	SCN9A	NM_001365536.1(SCN9A):c.4417T>G:p.Phe1473Val	coding	Pathogenic
2	166204448	A	G	A166204448G	SCN9A	NM_001365536.1(SCN9A):c.4415T>C:p.Ile1472Thr	coding	Pathogenic
2	166204448	A	T	A166204448T	SCN9A	NM_001365536.1(SCN9A):c.4415T>A:p.Ile1472Asn	coding	Pathogenic
2	166204478	C	A	C166204478A	SCN9A	NM_001365536.1(SCN9A):c.4399-14G>T	noncoding	Benign/Likely_benign
2	166226587	A	C	A166226587C	SCN9A	NM_001365536.1(SCN9A):c.4378T>G:p.Phe1460Val	coding	Pathogenic
2	166226609	G	A	G166226609A	SCN9A	NM_001365536.1(SCN9A):c.4356C>T:p.Phe1452=	coding	Benign/Likely_benign
2	166226650	C	T	C166226650T	SCN9A	NM_001365536.1(SCN9A):c.4315G>A:p.Val1439Ile	coding	Benign/Likely_benign
2	166228721	G	A	G166228721A	SCN9A	NM_001365536.1(SCN9A):c.4176C>T:p.Val1392=	coding	Benign
2	166228902	C	T	C166228902T	SCN9A	NM_001365536.1(SCN9A):c.3995G>A:p.Trp1332Ter	coding	Pathogenic
2	166228969	C	A	C166228969A	SCN9A	NM_001365536.1(SCN9A):c.3928G>T:p.Val1310Phe	coding	Pathogenic
2	166228971	A	T	A166228971T	SCN9A	NM_001365536.1(SCN9A):c.3926T>A:p.Val1309Asp	coding	Pathogenic
2	166228972	C	A	C166228972A	SCN9A	NM_001365536.1(SCN9A):c.3925G>T:p.Val1309Phe	coding	Pathogenic
2	166233466	T	C	T166233466C	SCN9A	NM_001365536.1(SCN9A):c.3802-4A>G	noncoding	Benign
2	166233470	A	G	A166233470G	SCN9A	NM_001365536.1(SCN9A):c.3802-8T>C	noncoding	Benign
2	166238115	C	T	C166238115T	SCN9A	NM_001365536.1(SCN9A):c.3780G>A:p.Trp1260Ter	coding	Pathogenic
2	166238220	G	T	G166238220T	SCN9A	NM_001365536.1(SCN9A):c.3675C>A:p.Ile1225=	coding	Benign
2	166242648	A	G	A166242648G	SCN9A;SCN1A-AS1	NM_001365536.1(SCN9A):c.3481T>C:p.Trp1161Arg	coding	Benign
2	166251751	A	G	A166251751G	SCN9A	NM_001365536.1(SCN9A):c.3472+14T>C	noncoding	Benign/Likely_benign
2	166251875	C	T	C166251875T	SCN9A	NM_001365536.1(SCN9A):c.3362G>A:p.Arg1121Gln	coding	Benign/Likely_benign
2	166272462	G	A	G166272462A	SCN9A	NM_001365536.1(SCN9A):c.3288C>T:p.Ser1096=	coding	Benign
2	166272563	C	A	C166272563A	SCN9A	NM_001365536.1(SCN9A):c.3187G>T:p.Gly1063Ter	coding	Pathogenic
2	166272881	T	C	T166272881C	SCN9A	NM_001365536.1(SCN9A):c.2875-6A>G	noncoding	Benign/Likely_benign
2	166277004	G	C	G166277004C	SCN9A	NM_001365536.1(SCN9A):c.2853C>G:p.Val951=	coding	Benign
2	166277030	T	G	T166277030G	SCN9A	NM_001365536.1(SCN9A):c.2827A>C:p.Met943Leu	coding	Benign/Likely_benign
2	166277124	G	A	G166277124A	SCN9A	NM_001365536.1(SCN9A):c.2733C>T:p.Asn911=	coding	Benign
2	166277133	C	T	C166277133T	SCN9A	NM_001365536.1(SCN9A):c.2724G>A:p.Trp908Ter	coding	Pathogenic
2	166277134	C	T	C166277134T	SCN9A	NM_001365536.1(SCN9A):c.2723G>A:p.Trp908Ter	coding	Pathogenic
2	166277237	C	G	C166277237G	SCN9A	NM_001365536.1(SCN9A):c.2620G>C:p.Ala874Pro	coding	Pathogenic
2	166277244	T	C	T166277244C	SCN9A	NM_001365536.1(SCN9A):c.2613A>G:p.Leu871=	coding	Benign
2	166277251	A	T	A166277251T	SCN9A	NM_001365536.1(SCN9A):c.2606T>A:p.Leu869His	coding	Pathogenic
2	166277252	G	A	G166277252A	SCN9A	NM_001365536.1(SCN9A):c.2605C>T:p.Leu869Phe	coding	Pathogenic
2	166277256	A	T	A166277256T	SCN9A	NM_001365536.1(SCN9A):c.2601T>A:p.Gly867=	coding	Benign
2	166277281	A	G	A166277281G	SCN9A	NM_001365536.1(SCN9A):c.2576T>C:p.Ile859Thr	coding	Pathogenic
2	166277336	G	A	G166277336A	SCN9A	NM_001365536.1(SCN9A):c.2521C>T:p.Arg841Ter	coding	Pathogenic
2	166278134	G	A	G166278134A	SCN9A	NM_001365536.1(SCN9A):c.2517+6C>T	noncoding	Benign/Likely_benign
2	166278154	G	A	G166278154A	SCN9A	NM_001365536.1(SCN9A):c.2503C>T:p.Arg835Ter	coding	Pathogenic
2	166278156	A	C	A166278156C	SCN9A	NM_001365536.1(SCN9A):c.2501T>G:p.Leu834Arg	coding	Pathogenic
2	166278220	T	C	T166278220C	SCN9A	NM_001365536.1(SCN9A):c.2437A>G:p.Ser813Gly	coding	Benign/Likely_benign
2	166278233	C	T	C166278233T	SCN9A	NM_001365536.1(SCN9A):c.2424G>A:p.Trp808Ter	coding	Pathogenic
2	166278248	A	G	A166278248G	SCN9A	NM_001365536.1(SCN9A):c.2409T>C:p.Tyr803=	coding	Benign/Likely_benign
2	166278265	T	C	T166278265C	SCN9A	NM_001365536.1(SCN9A):c.2392A>G:p.Met798Val	coding	Benign/Likely_benign
2	166278333	T	A	T166278333A	SCN9A	NM_001365536.1(SCN9A):c.2344-20A>T	noncoding	Benign
2	166280510	C	G	C166280510G	SCN9A	NM_001365536.1(SCN9A):c.2190G>C:p.Trp730Cys	coding	Benign/Likely_benign
2	166280535	A	G	A166280535G	SCN9A	NM_001365536.1(SCN9A):c.2165T>C:p.Leu722Ser	coding	Benign/Likely_benign
2	166280559	C	T	C166280559T	SCN9A	NM_001365536.1(SCN9A):c.2141G>A:p.Trp714Ter	coding	Pathogenic
2	166280609	G	A	G166280609A	SCN9A	NM_001365536.1(SCN9A):c.2105-14C>T	noncoding	Benign
2	166280610	C	T	C166280610T	SCN9A	NM_001365536.1(SCN9A):c.2105-15G>A	noncoding	Benign
2	166284523	G	C	G166284523C	SCN9A	NM_001365536.1(SCN9A):c.1904C>G:p.Ser635Ter	coding	Pathogenic
2	166284560	C	T	C166284560T	SCN9A	NM_001365536.1(SCN9A):c.1867G>A:p.Asp623Asn	coding	Pathogenic
2	166284589	G	A	G166284589A	SCN9A	NM_001365536.1(SCN9A):c.1838C>T:p.Pro613Leu	coding	Benign/Likely_benign
2	166284599	G	T	G166284599T	SCN9A	NM_001365536.1(SCN9A):c.1828C>A:p.Pro610Thr	coding	Benign/Likely_benign
2	166284785	G	A	G166284785A	SCN9A	NM_001365536.1(SCN9A):c.1642C>T:p.Arg548Ter	coding	Pathogenic
2	166286371	G	A	G166286371A	SCN9A	NM_001365536.1(SCN9A):c.1567C>T:p.Arg523Ter	coding	Pathogenic
2	166286469	C	T	C166286469T	SCN9A	NM_001365536.1(SCN9A):c.1469G>A:p.Ser490Asn	coding	Benign/Likely_benign
2	166286540	G	A	G166286540A	SCN9A	NM_001365536.1(SCN9A):c.1398C>T:p.Ser466=	coding	Benign/Likely_benign
2	166286562	G	C	G166286562C	SCN9A	NM_001365536.1(SCN9A):c.1376C>G:p.Ser459Ter	coding	Pathogenic
2	166288464	A	T	A166288464T	SCN9A	NM_001365536.1(SCN9A):c.1287T>A:p.Arg429=	coding	Benign
2	166288485	T	C	T166288485C	SCN9A	NM_001365536.1(SCN9A):c.1266A>G:p.Glu422=	coding	Benign
2	166288566	G	C	G166288566C	SCN9A	NM_001365536.1(SCN9A):c.1185C>G:p.Asn395Lys	coding	Pathogenic
2	166288566	G	T	G166288566T	SCN9A	NM_001365536.1(SCN9A):c.1185C>A:p.Asn395Lys	coding	Pathogenic
2	166288596	C	A	C166288596A	SCN9A	NM_001365536.1(SCN9A):c.1155G>T:p.Val385=	coding	Benign
2	166288632	A	G	A166288632G	SCN9A	NM_001365536.1(SCN9A):c.1119T>C:p.Ala373=	coding	Benign
2	166293354	G	T	G166293354T	SCN9A	NM_001365536.1(SCN9A):c.984C>A:p.Tyr328Ter	coding	Pathogenic
2	166293374	T	C	T166293374C	SCN9A	NM_002977.3(SCN9A):c.966-2A>G	noncoding	Pathogenic
2	166303162	G	A	G166303162A	SCN9A	NM_001365536.1(SCN9A):c.829C>T:p.Arg277Ter	coding	Pathogenic
2	166303290	A	G	A166303290G	SCN9A	NM_001365536.1(SCN9A):c.701T>C:p.Ile234Thr	coding	Pathogenic
2	166304225	A	G	A166304225G	SCN9A	NM_001365536.1(SCN9A):c.688+13T>C	noncoding	Benign
2	166304279	A	G	A166304279G	SCN9A	NM_001365536.1(SCN9A):c.647T>C:p.Phe216Ser	coding	Pathogenic
2	166304286	G	A	G166304286A	SCN9A	NM_001365536.1(SCN9A):c.640C>T:p.Arg214Ter	coding	Pathogenic
2	166304310	T	C	T166304310C	SCN9A	NM_001365536.1(SCN9A):c.616A>G:p.Asn206Asp	coding	Benign
2	166305818	C	T	C166305818T	SCN9A	NM_001365536.1(SCN9A):c.570G>A:p.Trp190Ter	coding	Pathogenic
2	166305834	C	T	C166305834T	SCN9A	NM_001365536.1(SCN9A):c.554G>A:p.Arg185His	coding	Benign/Likely_benign
2	166306531	G	T	G166306531T	SCN9A	NM_001365536.1(SCN9A):c.446C>A:p.Pro149Gln	coding	Pathogenic
2	166306533	T	C	T166306533C	SCN9A	NM_001365536.1(SCN9A):c.444A>G:p.Pro148=	coding	Benign
2	166306571	T	C	T166306571C	SCN9A	NM_001365536.1(SCN9A):c.406A>G:p.Ile136Val	coding	Pathogenic
2	166311583	C	T	C166311583T	SCN9A	NM_001365536.1(SCN9A):c.174G>A:p.Gln58=	coding	Benign
2	166311624	C	A	C166311624A	SCN9A	NM_001365536.1(SCN9A):c.133G>T:p.Glu45Ter	coding	Pathogenic
2	166375929	C	G	C166375929G	SCN9A	NM_001365536.1(SCN9A):c.-283G>C	noncoding	Benign/Likely_benign
2	166375936	A	G	A166375936G	SCN9A	NM_001365536.1(SCN9A):c.-290T>C	noncoding	Benign
2	166375940	A	G	A166375940G	SCN9A	NM_001365536.1(SCN9A):c.-294T>C	noncoding	Benign/Likely_benign
2	166375953	C	A	C166375953A	SCN9A	NM_002977.3(SCN9A):c.-307G>T	noncoding	Benign
2	166405739	G	A	G166405739A	SCN7A	NM_002976.3(SCN7A):c.4890C>T:p.Thr1630=	coding	Benign
2	166406387	C	T	C166406387T	SCN7A	NM_002976.3(SCN7A):c.4242G>A:p.Val1414=	coding	Benign
2	166409708	C	T	C166409708T	SCN7A	NM_002976.3(SCN7A):c.3939G>A:p.Ala1313=	coding	Benign
2	166409802	G	A	G166409802A	SCN7A	NM_002976.3(SCN7A):c.3845C>T:p.Ala1282Val	coding	Benign
2	166409912	A	G	A166409912G	SCN7A	NM_002976.3(SCN7A):c.3735T>C:p.Phe1245=	coding	Benign
2	166416782	G	A	G166416782A	SCN7A	NM_002976.3(SCN7A):c.3339C>T:p.Asn1113=	coding	Benign
2	166421306	T	A	T166421306A	SCN7A	NM_002976.3(SCN7A):c.3028-9A>T	noncoding	Benign
2	166423252	T	C	T166423252C	SCN7A	NM_002976.3(SCN7A):c.3027+7A>G	noncoding	Benign
2	166427931	C	T	C166427931T	SCN7A	NM_002976.3(SCN7A):c.2710G>A:p.Gly904Arg	coding	Benign
2	166432706	T	C	T166432706C	SCN7A	NM_002976.3(SCN7A):c.2204A>G:p.Lys735Arg	coding	Benign
2	166441505	C	T	C166441505T	SCN7A	NM_002976.3(SCN7A):c.2048G>A:p.Arg683Gln	coding	Benign
2	166441583	A	G	A166441583G	SCN7A	NM_002976.3(SCN7A):c.1970T>C:p.Val657Ala	coding	Benign
2	166441611	G	A	G166441611A	SCN7A	NM_002976.3(SCN7A):c.1942C>T:p.Leu648=	coding	Benign
2	166443505	T	A	T166443505A	SCN7A	NM_002976.3(SCN7A):c.1798A>T:p.Met600Leu	coding	Benign
2	166443618	T	C	T166443618C	SCN7A	NM_002976.3(SCN7A):c.1685A>G:p.Tyr562Cys	coding	Benign
2	166444849	T	C	T166444849C	SCN7A	NM_002976.3(SCN7A):c.1539A>G:p.Ile513Met	coding	Benign
2	166473845	C	T	C166473845T	SCN7A	NM_002976.3(SCN7A):c.397G>A:p.Val133Ile	coding	Benign
2	166903492	A	G	A166903492G	XIRP2	NM_152381.6(XIRP2):c.10A>G:p.Met4Val	coding	Benign
2	166903521	G	A	G166903521A	XIRP2	NM_152381.6(XIRP2):c.39G>A:p.Arg13=	coding	Benign
2	167135972	G	A	G167135972A	XIRP2	NM_152381.5(XIRP2):c.472G>A:p.Glu158Lys	coding	Benign
2	167184577	C	T	C167184577T	XIRP2	NM_152381.6(XIRP2):c.563-26158C>T	coding	Benign
2	167184588	T	C	T167184588C	XIRP2	NM_152381.6(XIRP2):c.563-26147T>C	coding	Benign
2	167218195	G	T	G167218195T	XIRP2	NM_152381.6(XIRP2):c.753G>T:p.Val251=	coding	Benign
2	167218196	C	T	C167218196T	XIRP2	NM_152381.6(XIRP2):c.754C>T:p.Pro252Ser	coding	Benign
2	167239898	A	T	A167239898T	XIRP2	NM_152381.6(XIRP2):c.902A>T:p.Gln301Leu	coding	Benign
2	167240705	A	C	A167240705C	XIRP2	NM_152381.6(XIRP2):c.1011A>C:p.Ala337=	coding	Benign
2	167242806	T	C	T167242806C	XIRP2	NM_152381.6(XIRP2):c.1414T>C:p.Ser472Pro	coding	Benign
2	167242990	G	A	G167242990A	XIRP2	NM_152381.6(XIRP2):c.1598G>A:p.Ser533Asn	coding	Benign
2	167243441	C	T	C167243441T	XIRP2	NM_152381.6(XIRP2):c.2049C>T:p.Asp683=	coding	Benign
2	167243600	C	T	C167243600T	XIRP2	NM_152381.6(XIRP2):c.2208C>T:p.Phe736=	coding	Benign
2	167243703	C	T	C167243703T	XIRP2	NM_152381.6(XIRP2):c.2311C>T:p.Arg771Trp	coding	Benign
2	167243949	C	T	C167243949T	XIRP2	NM_152381.6(XIRP2):c.2557C>T:p.Leu853=	coding	Benign
2	167243979	C	T	C167243979T	XIRP2	NM_152381.6(XIRP2):c.2587C>T:p.Gln863Ter	coding	Benign
2	167244483	G	A	G167244483A	XIRP2	NM_152381.6(XIRP2):c.3091G>A:p.Glu1031Lys	coding	Benign
2	167245060	T	C	T167245060C	XIRP2	NM_152381.6(XIRP2):c.3668T>C:p.Ile1223Thr	coding	Benign
2	167245186	C	T	C167245186T	XIRP2	NM_152381.6(XIRP2):c.3794C>T:p.Thr1265Ile	coding	Benign
2	167245346	C	G	C167245346G	XIRP2	NM_152381.6(XIRP2):c.3954C>G:p.Thr1318=	coding	Benign
2	167245435	G	A	G167245435A	XIRP2	NM_152381.6(XIRP2):c.4043G>A:p.Arg1348Gln	coding	Benign
2	167246107	T	C	T167246107C	XIRP2	NM_152381.6(XIRP2):c.4715T>C:p.Ile1572Thr	coding	Benign
2	167246307	C	A	C167246307A	XIRP2	NM_152381.6(XIRP2):c.4915C>A:p.Gln1639Lys	coding	Benign
2	167246373	C	A	C167246373A	XIRP2	NM_152381.6(XIRP2):c.4981C>A:p.Gln1661Lys	coding	Benign
2	167246380	T	C	T167246380C	XIRP2	NM_152381.6(XIRP2):c.4988T>C:p.Ile1663Thr	coding	Benign
2	167246461	C	T	C167246461T	XIRP2	NM_152381.6(XIRP2):c.5069C>T:p.Thr1690Ile	coding	Benign
2	167246506	G	A	G167246506A	XIRP2	NM_152381.6(XIRP2):c.5114G>A:p.Arg1705His	coding	Benign
2	167246734	T	C	T167246734C	XIRP2	NM_152381.6(XIRP2):c.5342T>C:p.Ile1781Thr	coding	Benign
2	167246908	G	A	G167246908A	XIRP2	NM_152381.6(XIRP2):c.5516G>A:p.Gly1839Asp	coding	Benign
2	167247440	T	C	T167247440C	XIRP2	NM_152381.6(XIRP2):c.6048T>C:p.Val2016=	coding	Benign
2	167247673	C	G	C167247673G	XIRP2	NM_152381.6(XIRP2):c.6281C>G:p.Thr2094Arg	coding	Benign
2	167248006	A	C	A167248006C	XIRP2	NM_152381.6(XIRP2):c.6614A>C:p.Asn2205Thr	coding	Benign
2	167249020	C	T	C167249020T	XIRP2	NM_152381.6(XIRP2):c.7628C>T:p.Pro2543Leu	coding	Benign
2	167249248	G	A	G167249248A	XIRP2	NM_152381.6(XIRP2):c.7856G>A:p.Arg2619Gln	coding	Benign
2	167249700	C	T	C167249700T	XIRP2	NM_152381.6(XIRP2):c.8308C>T:p.His2770Tyr	coding	Benign
2	167249897	A	G	A167249897G	XIRP2	NM_152381.6(XIRP2):c.8505A>G:p.Leu2835=	coding	Benign
2	167249969	T	C	T167249969C	XIRP2	NM_152381.6(XIRP2):c.8577T>C:p.Asp2859=	coding	Benign
2	167250518	G	A	G167250518A	XIRP2	NM_152381.6(XIRP2):c.9126G>A:p.Pro3042=	coding	Benign
2	167250525	A	G	A167250525G	XIRP2	NM_152381.6(XIRP2):c.9133A>G:p.Lys3045Glu	coding	Benign
2	167250841	A	G	A167250841G	XIRP2	NM_152381.6(XIRP2):c.9449A>G:p.Tyr3150Cys	coding	Benign
2	167250842	T	C	T167250842C	XIRP2	NM_152381.6(XIRP2):c.9450T>C:p.Tyr3150=	coding	Benign
2	167250843	G	C	G167250843C	XIRP2	NM_152381.6(XIRP2):c.9451G>C:p.Val3151Leu	coding	Benign
2	167251227	T	C	T167251227C	XIRP2	NM_152381.6(XIRP2):c.9835T>C:p.Ser3279Pro	coding	Benign
2	167251502	A	G	A167251502G	XIRP2	NM_152381.6(XIRP2):c.10110A>G:p.Thr3370=	coding	Benign
2	167251735	G	A	G167251735A	XIRP2	NM_152381.6(XIRP2):c.10343G>A:p.Gly3448Asp	coding	Benign
2	168715009	C	T	C168715009T	CERS6	NM_203463.3(CERS6):c.618C>T:p.Gly206=	coding	Benign
2	168715100	C	G	C168715100G	CERS6	NM_203463.3(CERS6):c.709C>G:p.Leu237Val	coding	Benign
2	168834321	G	A	G168834321A	NOSTRIN	NM_001171631.1(NOSTRIN):c.500G>A:p.Arg167Gln	coding	Benign
2	168860907	C	T	C168860907T	NOSTRIN	NM_001171631.1(NOSTRIN):c.1463C>T:p.Pro488Leu	coding	Benign
2	168923202	T	C	T168923202C	ABCB11	NM_003742.4(ABCB11):c.*420A>G	noncoding	Benign
2	168923254	C	T	C168923254T	ABCB11	NM_003742.4(ABCB11):c.*368G>A	noncoding	Benign
2	168923386	T	C	T168923386C	ABCB11	NM_003742.4(ABCB11):c.*236A>G	noncoding	Benign
2	168924730	C	T	C168924730T	ABCB11	NM_003742.4(ABCB11):c.3692G>A:p.Arg1231Gln	coding	Pathogenic
2	168924731	G	A	G168924731A	ABCB11	NM_003742.4(ABCB11):c.3691C>T:p.Arg1231Trp	coding	Pathogenic
2	168924753	C	G	C168924753G	ABCB11	NM_003742.4(ABCB11):c.3669G>C:p.Glu1223Asp	coding	Pathogenic
2	168927317	G	A	G168927317A	ABCB11	NM_003742.4(ABCB11):c.3457C>T:p.Arg1153Cys	coding	Pathogenic
2	168927339	T	C	T168927339C	ABCB11	NM_003742.4(ABCB11):c.3435A>G:p.Lys1145=	coding	Benign/Likely_benign
2	168930694	G	A	G168930694A	ABCB11	NM_003742.4(ABCB11):c.3382C>T:p.Arg1128Cys	coding	Pathogenic
2	168930746	C	T	C168930746T	ABCB11	NM_003742.4(ABCB11):c.3330G>A:p.Ala1110=	coding	Benign/Likely_benign
2	168930808	G	A	G168930808A	ABCB11	NM_003742.4(ABCB11):c.3268C>T:p.Arg1090Ter	coding	Pathogenic
2	168930818	T	C	T168930818C	ABCB11	NM_003742.4(ABCB11):c.3258A>G:p.Thr1086=	coding	Benign
2	168932420	C	T	C168932420T	ABCB11	NM_003742.4(ABCB11):c.3170G>A:p.Arg1057Gln	coding	Benign
2	168932421	G	A	G168932421A	ABCB11	NM_003742.4(ABCB11):c.3169C>T:p.Arg1057Ter	coding	Pathogenic
2	168932442	G	A	G168932442A	ABCB11	NM_003742.4(ABCB11):c.3148C>T:p.Arg1050Cys	coding	Pathogenic
2	168932506	T	C	T168932506C	ABCB11	NM_003742.4(ABCB11):c.3084A>G:p.Ala1028=	coding	Benign
2	168935255	C	T	C168935255T	ABCB11	NM_003742.4(ABCB11):c.2985G>A:p.Ala995=	coding	Benign/Likely_benign
2	168935296	C	T	C168935296T	ABCB11	NM_003742.4(ABCB11):c.2944G>A:p.Gly982Arg	coding	Pathogenic
2	168935297	G	A	G168935297A	ABCB11	NM_003742.4(ABCB11):c.2943C>T:p.Tyr981=	coding	Benign/Likely_benign
2	168935398	G	A	G168935398A	ABCB11	NM_003742.4(ABCB11):c.2842C>T:p.Arg948Cys	coding	Pathogenic
2	168936262	G	A	G168936262A	ABCB11	NM_003742.4(ABCB11):c.2782C>T:p.Arg928Ter	coding	Pathogenic
2	168944621	G	A	G168944621A	ABCB11	NM_003742.4(ABCB11):c.2594C>T:p.Ala865Val	coding	Benign/Likely_benign
2	168944721	G	A	G168944721A	ABCB11	NM_003742.4(ABCB11):c.2494C>T:p.Arg832Cys	coding	Pathogenic/Likely_pathogenic
2	168944893	T	C	T168944893C	ABCB11	NM_003742.4(ABCB11):c.2412A>G:p.Ala804=	coding	Benign
2	168944925	G	A	G168944925A	ABCB11	NM_003742.4(ABCB11):c.2380C>T:p.Gln794Ter	coding	Pathogenic
2	168944978	A	G	A168944978G	ABCB11	NM_003742.4(ABCB11):c.2344-17T>C	noncoding	Benign
2	168957991	A	T	A168957991T	ABCB11	NM_003742.4(ABCB11):c.2316T>A:p.Tyr772Ter	coding	Pathogenic
2	168958011	C	T	C168958011T	ABCB11	NM_003742.4(ABCB11):c.2296G>A:p.Gly766Arg	coding	Pathogenic
2	168958145	G	T	G168958145T	ABCB11	NM_003742.4(ABCB11):c.2179-17C>A	noncoding	Benign
2	168964205	C	T	C168964205T	ABCB11	NM_003742.4(ABCB11):c.2178+1G>A	noncoding	Pathogenic
2	168964250	A	G	A168964250G	ABCB11	NM_003742.4(ABCB11):c.2134T>C:p.Leu712=	coding	Benign/Likely_benign
2	168964283	A	G	A168964283G	ABCB11	NM_003742.4(ABCB11):c.2101T>C:p.Ser701Pro	coding	Benign/Likely_benign
2	168964291	C	T	C168964291T	ABCB11	NM_003742.4(ABCB11):c.2093G>A:p.Arg698His	coding	Benign/Likely_benign
2	168968473	T	C	T168968473C	ABCB11	NM_003742.4(ABCB11):c.2029A>G:p.Met677Val	coding	Benign
2	168968498	A	C	A168968498C	ABCB11	NM_003742.4(ABCB11):c.2012-8T>G	noncoding	Pathogenic/Likely_pathogenic
2	168969552	C	T	C168969552T	ABCB11	NM_003742.4(ABCB11):c.1810-1G>A	coding	Pathogenic
2	168970063	C	A	C168970063A	ABCB11	NM_003742.4(ABCB11):c.1791G>T:p.Val597=	coding	Benign/Likely_benign
2	168970082	T	C	T168970082C	ABCB11	NM_003742.4(ABCB11):c.1772A>G:p.Asn591Ser	coding	Benign
2	168970091	G	A	G168970091A	ABCB11	NM_003742.4(ABCB11):c.1763C>T:p.Ala588Val	coding	Pathogenic
2	168970131	G	A	G168970131A	ABCB11	NM_003742.4(ABCB11):c.1723C>T:p.Arg575Ter	coding	Pathogenic
2	168970146	C	T	C168970146T	ABCB11	NM_003742.4(ABCB11):c.1708G>A:p.Ala570Thr	coding	Pathogenic/Likely_pathogenic
2	168971849	G	T	G168971849T	ABCB11	NM_003742.4(ABCB11):c.1636C>A:p.Gln546Lys	coding	Benign/Likely_benign
2	168971880	G	A	G168971880A	ABCB11	NM_003742.4(ABCB11):c.1605C>T:p.Ala535=	coding	Benign/Likely_benign
2	168972040	T	C	T168972040C	ABCB11	NM_003742.4(ABCB11):c.1445A>G:p.Asp482Gly	coding	Pathogenic
2	168973733	A	T	A168973733T	ABCB11	NM_003742.4(ABCB11):c.1416T>A:p.Tyr472Ter	coding	Pathogenic
2	168973740	C	T	C168973740T	ABCB11	NM_003742.4(ABCB11):c.1409G>A:p.Arg470Gln	coding	Pathogenic
2	168973741	G	A	G168973741A	ABCB11	NM_003742.4(ABCB11):c.1408C>T:p.Arg470Ter	coding	Pathogenic
2	168973818	A	G	A168973818G	ABCB11	NM_003742.4(ABCB11):c.1331T>C:p.Val444Ala	coding	Benign
2	168976590	C	G	C168976590G	ABCB11	NM_003742.4(ABCB11):c.1295G>C:p.Arg432Thr	coding	Pathogenic
2	168979878	C	T	C168979878T	ABCB11	NM_003742.4(ABCB11):c.1185G>A:p.Glu395=	coding	Benign
2	168979907	C	A	C168979907A	ABCB11	NM_003742.4(ABCB11):c.1156G>T:p.Gly386Ter	coding	Pathogenic
2	168986092	T	A	T168986092A	ABCB11	NM_003742.4(ABCB11):c.1083+18A>T	noncoding	Benign
2	168986124	C	A	C168986124A	ABCB11	NM_003742.4(ABCB11):c.1069G>T:p.Gly357Ter	coding	Pathogenic
2	168986236	T	C	T168986236C	ABCB11	NM_003742.4(ABCB11):c.957A>G:p.Gly319=	coding	Benign
2	168986299	T	C	T168986299C	ABCB11	NM_003742.4(ABCB11):c.909-15A>G	noncoding	Benign
2	168986301	C	T	C168986301T	ABCB11	NM_003742.4(ABCB11):c.909-17G>A	noncoding	Benign
2	168990800	C	A	C168990800A	ABCB11	NM_003742.4(ABCB11):c.908+1G>T	noncoding	Pathogenic
2	168990800	C	T	C168990800T	ABCB11	NM_003742.4(ABCB11):c.908+1G>A	noncoding	Pathogenic
2	168990819	T	C	T168990819C	ABCB11	NM_003742.4(ABCB11):c.890A>G:p.Glu297Gly	coding	Pathogenic
2	168990862	C	A	C168990862A	ABCB11	NM_003742.4(ABCB11):c.847G>T:p.Glu283Ter	coding	Pathogenic
2	168990902	A	G	A168990902G	ABCB11	NM_003742.4(ABCB11):c.807T>C:p.Tyr269=	coding	Benign
2	168993878	T	C	T168993878C	ABCB11	NM_003742.4(ABCB11):c.616A>G:p.Ile206Val	coding	Benign
2	168996619	C	T	C168996619T	ABCB11	NM_003742.4(ABCB11):c.477+16G>A	noncoding	Benign
2	168996703	C	A	C168996703A	ABCB11	NM_003742.4(ABCB11):c.409G>T:p.Glu137Ter	coding	Pathogenic
2	168996710	G	A	G168996710A	ABCB11	NM_003742.4(ABCB11):c.402C>T:p.Ile134=	coding	Benign
2	168996713	G	A	G168996713A	ABCB11	NM_003742.4(ABCB11):c.399C>T:p.Asn133=	coding	Benign
2	168996723	C	A	C168996723A	ABCB11	NM_003742.4(ABCB11):c.390-1G>T	coding	Pathogenic
2	169013264	C	T	C169013264T	ABCB11	NM_003742.4(ABCB11):c.389+8G>A	noncoding	Benign
2	169013391	A	G	A169013391G	ABCB11	NM_003742.4(ABCB11):c.270T>C:p.Phe90=	coding	Benign
2	169013494	G	C	G169013494C	ABCB11	NM_003742.4(ABCB11):c.167C>G:p.Ser56Ter	coding	Pathogenic
2	169014300	T	G	T169014300G	ABCB11	NM_003742.4(ABCB11):c.150+3A>C	noncoding	Pathogenic
2	169014302	C	T	C169014302T	ABCB11	NM_003742.4(ABCB11):c.150+1G>A	noncoding	Pathogenic
2	169014345	A	G	A169014345G	ABCB11	NM_003742.4(ABCB11):c.108T>C:p.Asp36=	coding	Benign
2	169014372	A	G	A169014372G	ABCB11	NM_003742.4(ABCB11):c.99-18T>C	noncoding	Benign
2	169018104	G	A	G169018104A	ABCB11	NM_003742.4(ABCB11):c.22C>T:p.Arg8Ter	coding	Pathogenic
2	169031294	A	G	A169031294G	ABCB11	NM_003742.4(ABCB11):c.-97T>C	noncoding	Benign
2	169128119	A	G	A169128119G	LRP2	NM_004525.3(LRP2):c.*544T>C	noncoding	Benign
2	169128410	A	G	A169128410G	LRP2	NM_004525.3(LRP2):c.*253T>C	noncoding	Benign
2	169128696	G	A	G169128696A	LRP2	NM_004525.3(LRP2):c.13935C>T:p.Thr4645=	coding	Benign
2	169128729	G	C	G169128729C	LRP2	NM_004525.3(LRP2):c.13902C>G:p.Thr4634=	coding	Benign
2	169128828	C	T	C169128828T	LRP2	NM_004525.3(LRP2):c.13803G>A:p.Met4601Ile	coding	Benign
2	169137378	G	C	G169137378C	LRP2	NM_004525.3(LRP2):c.13620+14C>G	noncoding	Benign
2	169137467	C	T	C169137467T	LRP2	NM_004525.3(LRP2):c.13545G>A:p.Gly4515=	coding	Benign
2	169139560	C	T	C169139560T	LRP2	NM_004525.3(LRP2):c.13250G>A:p.Gly4417Asp	coding	Benign
2	169140499	G	A	G169140499A	LRP2	NM_004525.3(LRP2):c.13155C>T:p.His4385=	coding	Benign
2	169140520	G	C	G169140520C	LRP2	NM_004525.3(LRP2):c.13134C>G:p.Pro4378=	coding	Benign/Likely_benign
2	169140541	G	A	G169140541A	LRP2	NM_004525.3(LRP2):c.13113C>T:p.Ile4371=	coding	Benign
2	169146727	C	T	C169146727T	LRP2	NM_004525.3(LRP2):c.12811+12G>A	noncoding	Benign
2	169146922	T	G	T169146922G	LRP2	NM_004525.3(LRP2):c.12628A>C:p.Ile4210Leu	coding	Benign
2	169151039	G	A	G169151039A	LRP2	NM_004525.3(LRP2):c.12462-13C>T	noncoding	Benign
2	169152880	C	T	C169152880T	LRP2	NM_004525.3(LRP2):c.12380G>A:p.Arg4127His	coding	Benign/Likely_benign
2	169152881	G	T	G169152881T	LRP2	NM_004525.3(LRP2):c.12379C>A:p.Arg4127Ser	coding	Benign/Likely_benign
2	169152971	A	T	A169152971T	LRP2	NM_004525.3(LRP2):c.12296-7T>A	noncoding	Benign/Likely_benign
2	169154475	T	C	T169154475C	LRP2	NM_004525.3(LRP2):c.12280A>G:p.Lys4094Glu	coding	Benign
2	169156270	A	G	A169156270G	LRP2	NM_004525.3(LRP2):c.12151+4T>C	noncoding	Benign
2	169157394	A	C	A169157394C	LRP2	NM_004525.3(LRP2):c.11996T>G:p.Val3999Gly	coding	Benign
2	169162605	A	C	A169162605C	LRP2	NM_004525.3(LRP2):c.11759-5T>G	noncoding	Benign
2	169162611	A	C	A169162611C	LRP2	NM_004525.3(LRP2):c.11759-11T>G	noncoding	Benign
2	169168573	A	G	A169168573G	LRP2	NM_004525.3(LRP2):c.11601T>C:p.Cys3867=	coding	Benign
2	169169745	A	G	A169169745G	LRP2	NM_004525.3(LRP2):c.11454T>C:p.Asp3818=	coding	Benign
2	169170585	G	A	G169170585A	LRP2	NM_004525.3(LRP2):c.11346C>T:p.Asn3782=	coding	Benign
2	169172034	G	A	G169172034A	LRP2	NM_004525.3(LRP2):c.11244C>T:p.Asn3748=	coding	Benign/Likely_benign
2	169173147	C	T	C169173147T	LRP2	NM_004525.3(LRP2):c.11092G>A:p.Val3698Met	coding	Benign/Likely_benign
2	169174129	C	T	C169174129T	LRP2	NM_004525.3(LRP2):c.10804G>A:p.Ala3602Thr	coding	Benign/Likely_benign
2	169175314	C	T	C169175314T	LRP2	NM_004525.3(LRP2):c.10647G>A:p.Pro3549=	coding	Benign
2	169176479	C	T	C169176479T	LRP2	NM_004525.3(LRP2):c.10503G>A:p.Gln3501=	coding	Benign
2	169176579	G	A	G169176579A	LRP2	NM_004525.3(LRP2):c.10403C>T:p.Pro3468Leu	coding	Benign/Likely_benign
2	169177963	G	A	G169177963A	LRP2	NM_004525.3(LRP2):c.10233C>T:p.Phe3411=	coding	Benign/Likely_benign
2	169178001	G	A	G169178001A	LRP2	NM_004525.3(LRP2):c.10195C>T:p.Arg3399Ter	coding	Pathogenic
2	169182251	C	T	C169182251T	LRP2	NM_004525.3(LRP2):c.9914G>A:p.Arg3305His	coding	Benign
2	169185735	T	C	T169185735C	LRP2	NM_004525.3(LRP2):c.9613A>G:p.Asn3205Asp	coding	Benign
2	169185935	C	T	C169185935T	LRP2	NM_004525.3(LRP2):c.9413G>A:p.Arg3138His	coding	Benign
2	169186006	G	A	G169186006A	LRP2	NM_004525.3(LRP2):c.9342C>T:p.Cys3114=	coding	Benign/Likely_benign
2	169188016	G	A	G169188016A	LRP2	NM_004525.3(LRP2):c.9282C>T:p.Cys3094=	coding	Benign
2	169188064	G	A	G169188064A	LRP2	NM_004525.3(LRP2):c.9234C>T:p.His3078=	coding	Benign
2	169188151	G	A	G169188151A	LRP2	NM_004525.3(LRP2):c.9147C>T:p.Phe3049=	coding	Benign/Likely_benign
2	169188273	A	G	A169188273G	LRP2	NM_004525.3(LRP2):c.9033-8T>C	noncoding	Benign
2	169188274	T	C	T169188274C	LRP2	NM_004525.3(LRP2):c.9033-9A>G	noncoding	Benign
2	169193900	G	A	G169193900A	LRP2	NM_004525.3(LRP2):c.8699-8C>T	noncoding	Benign/Likely_benign
2	169196995	C	T	C169196995T	LRP2	NM_004525.3(LRP2):c.8614G>A:p.Ala2872Thr	coding	Benign
2	169198922	A	G	A169198922G	LRP2	NM_004525.3(LRP2):c.8453-11T>C	noncoding	Benign
2	169201627	C	T	C169201627T	LRP2	NM_004525.3(LRP2):c.8452+1G>A	noncoding	Pathogenic
2	169204069	T	C	T169204069C	LRP2	NM_004525.3(LRP2):c.7918A>G:p.Ile2640Val	coding	Benign
2	169204070	T	G	T169204070G	LRP2	NM_004525.3(LRP2):c.7917A>C:p.Gly2639=	coding	Benign
2	169204093	T	C	T169204093C	LRP2	NM_004525.3(LRP2):c.7894A>G:p.Asn2632Asp	coding	Benign
2	169205568	G	C	G169205568C	LRP2	NM_004525.3(LRP2):c.7626C>G:p.Arg2542=	coding	Benign
2	169206467	T	C	T169206467C	LRP2	NM_004525.3(LRP2):c.7253A>G:p.Glu2418Gly	coding	Benign
2	169206753	G	A	G169206753A	LRP2	NM_004525.3(LRP2):c.6967C>T:p.Leu2323=	coding	Benign/Likely_benign
2	169206766	G	A	G169206766A	LRP2	NM_004525.3(LRP2):c.6954C>T:p.Asp2318=	coding	Benign
2	169206910	C	T	C169206910T	LRP2	NM_004525.3(LRP2):c.6810G>A:p.Val2270=	coding	Benign
2	169206961	A	G	A169206961G	LRP2	NM_004525.3(LRP2):c.6759T>C:p.Asp2253=	coding	Benign
2	169211981	C	T	C169211981T	LRP2	NM_004525.3(LRP2):c.6267G>A:p.Pro2089=	coding	Benign
2	169212054	A	G	A169212054G	LRP2	NM_004525.3(LRP2):c.6194T>C:p.Ile2065Thr	coding	Benign
2	169212200	G	A	G169212200A	LRP2	NM_004525.3(LRP2):c.6048C>T:p.Ala2016=	coding	Benign
2	169212203	G	A	G169212203A	LRP2	NM_004525.3(LRP2):c.6045C>T:p.Ala2015=	coding	Benign
2	169213642	G	A	G169213642A	LRP2	NM_004525.3(LRP2):c.6040+15C>T	noncoding	Benign
2	169213662	C	T	C169213662T	LRP2	NM_004525.3(LRP2):c.6035G>A:p.Arg2012Lys	coding	Benign
2	169213838	T	C	T169213838C	LRP2	NM_004525.3(LRP2):c.5859A>G:p.Arg1953=	coding	Benign
2	169216377	G	C	G169216377C	LRP2	NM_004525.3(LRP2):c.5702C>G:p.Ala1901Gly	coding	Benign
2	169225300	G	A	G169225300A	LRP2	NM_004525.3(LRP2):c.5538+10C>T	noncoding	Benign
2	169225465	G	C	G169225465C	LRP2	NM_004525.3(LRP2):c.5395-12C>G	noncoding	Benign
2	169226426	T	C	T169226426C	LRP2	NM_004525.3(LRP2):c.5390A>G:p.Asn1797Ser	coding	Benign
2	169226449	C	T	C169226449T	LRP2	NM_004525.3(LRP2):c.5367G>A:p.Glu1789=	coding	Benign
2	169226523	C	T	C169226523T	LRP2	NM_004525.3(LRP2):c.5293G>A:p.Val1765Met	coding	Benign/Likely_benign
2	169231841	G	A	G169231841A	LRP2	NM_004525.3(LRP2):c.5100C>T:p.Ser1700=	coding	Benign
2	169233424	C	T	C169233424T	LRP2	NM_004525.3(LRP2):c.5085G>A:p.Ser1695=	coding	Benign/Likely_benign
2	169233585	T	C	T169233585C	LRP2	NM_004525.3(LRP2):c.4924A>G:p.Ile1642Val	coding	Benign
2	169235885	A	G	A169235885G	LRP2	NM_004525.3(LRP2):c.4875T>C:p.Cys1625=	coding	Benign
2	169238253	G	C	G169238253C	LRP2	NM_004525.3(LRP2):c.4344C>G:p.Ala1448=	coding	Benign
2	169239508	G	A	G169239508A	LRP2	NM_004525.3(LRP2):c.4294+19C>T	noncoding	Benign
2	169239585	C	G	C169239585G	LRP2	NM_004525.3(LRP2):c.4236G>C:p.Arg1412=	coding	Benign
2	169239781	A	G	A169239781G	LRP2	NM_004525.3(LRP2):c.4046-6T>C	noncoding	Benign
2	169241197	T	G	T169241197G	LRP2	NM_004525.3(LRP2):c.3836A>C:p.Asp1279Ala	coding	Benign
2	169242936	T	G	T169242936G	LRP2	NM_004525.3(LRP2):c.3667+20A>C	noncoding	Benign
2	169242943	A	T	A169242943T	LRP2	NM_004525.3(LRP2):c.3667+13T>A	noncoding	Benign
2	169242963	T	C	T169242963C	LRP2	NM_004525.3(LRP2):c.3660A>G:p.Ala1220=	coding	Benign
2	169242964	G	A	G169242964A	LRP2	NM_004525.3(LRP2):c.3659C>T:p.Ala1220Val	coding	Benign
2	169243385	A	C	A169243385C	LRP2	NM_004525.3(LRP2):c.3550+18T>G	noncoding	Benign
2	169243389	G	A	G169243389A	LRP2	NM_004525.3(LRP2):c.3550+14C>T	noncoding	Benign
2	169243501	G	A	G169243501A	LRP2	NM_004525.3(LRP2):c.3452C>T:p.Pro1151Leu	coding	Benign
2	169243519	G	A	G169243519A	LRP2	NM_004525.3(LRP2):c.3434C>T:p.Ser1145Leu	coding	Benign
2	169244683	C	T	C169244683T	LRP2	NM_004525.3(LRP2):c.3430+10G>A	noncoding	Benign
2	169246814	G	A	G169246814A	LRP2	NM_004525.3(LRP2):c.3081C>T:p.Gly1027=	coding	Benign
2	169246826	T	C	T169246826C	LRP2	NM_004525.3(LRP2):c.3069A>G:p.Thr1023=	coding	Benign
2	169246841	G	T	G169246841T	LRP2	NM_004525.3(LRP2):c.3054C>A:p.Thr1018=	coding	Benign
2	169246961	C	T	C169246961T	LRP2	NM_004525.3(LRP2):c.2934G>A:p.Thr978=	coding	Benign
2	169246962	G	A	G169246962A	LRP2	NM_004525.3(LRP2):c.2933C>T:p.Thr978Met	coding	Benign
2	169256150	T	C	T169256150C	LRP2	NM_004525.3(LRP2):c.2726A>G:p.His909Arg	coding	Benign
2	169256237	C	T	C169256237T	LRP2	NM_004525.3(LRP2):c.2640-1G>A	coding	Pathogenic
2	169257123	C	T	C169257123T	LRP2	NM_004525.3(LRP2):c.2639+1G>A	noncoding	Pathogenic
2	169257127	C	G	C169257127G	LRP2	NM_004525.3(LRP2):c.2636G>C:p.Trp879Ser	coding	Benign
2	169257243	T	C	T169257243C	LRP2	NM_004525.3(LRP2):c.2520A>G:p.Leu840=	coding	Benign
2	169259027	G	A	G169259027A	LRP2	NM_004525.3(LRP2):c.2511C>T:p.Ala837=	coding	Benign/Likely_benign
2	169259064	A	C	A169259064C	LRP2	NM_004525.3(LRP2):c.2474T>G:p.Leu825Ter	coding	Pathogenic
2	169259078	T	C	T169259078C	LRP2	NM_004525.3(LRP2):c.2460A>G:p.Thr820=	coding	Benign
2	169259162	A	G	A169259162G	LRP2	NM_004525.3(LRP2):c.2376T>C:p.Asp792=	coding	Benign
2	169271049	G	A	G169271049A	LRP2	NM_004525.3(LRP2):c.2175C>T:p.Thr725=	coding	Benign/Likely_benign
2	169272964	G	A	G169272964A	LRP2	NM_004525.3(LRP2):c.2079C>T:p.Phe693=	coding	Benign/Likely_benign
2	169273018	G	A	G169273018A	LRP2	NM_004525.3(LRP2):c.2025C>T:p.Val675=	coding	Benign
2	169273019	A	G	A169273019G	LRP2	NM_004525.3(LRP2):c.2024T>C:p.Val675Ala	coding	Benign
2	169273037	C	T	C169273037T	LRP2	NM_004525.3(LRP2):c.2006G>A:p.Gly669Asp	coding	Benign/Likely_benign
2	169273072	A	T	A169273072T	LRP2	NM_004525.3(LRP2):c.1976-5T>A	noncoding	Benign
2	169275142	G	A	G169275142A	LRP2	NM_004525.3(LRP2):c.1869C>T:p.Ala623=	coding	Benign
2	169279591	A	T	A169279591T	LRP2	NM_004525.3(LRP2):c.1346T>A:p.Phe449Tyr	coding	Benign
2	169280348	A	C	A169280348C	LRP2	NM_004525.3(LRP2):c.1341+2T>G	noncoding	Pathogenic
2	169280527	C	T	C169280527T	LRP2	NM_004525.3(LRP2):c.1172-8G>A	noncoding	Benign
2	169282877	A	C	A169282877C	LRP2	NM_004525.3(LRP2):c.1167T>G:p.Asp389Glu	coding	Benign
2	169282951	G	A	G169282951A	LRP2	NM_004525.3(LRP2):c.1093C>T:p.Arg365Ter	coding	Pathogenic
2	169290876	A	G	A169290876G	LRP2	NM_004525.3(LRP2):c.891T>C:p.Asp297=	coding	Benign
2	169290935	G	A	G169290935A	LRP2	NM_004525.3(LRP2):c.832C>T:p.Arg278Ter	coding	Pathogenic
2	169290992	C	G	C169290992G	LRP2	NM_004525.3(LRP2):c.775G>C:p.Gly259Arg	coding	Benign
2	169290999	T	C	T169290999C	LRP2	NM_004525.3(LRP2):c.770-2A>G	noncoding	Pathogenic
2	169292235	A	G	A169292235G	LRP2	NM_004525.3(LRP2):c.769+18T>C	noncoding	Benign
2	169292244	C	T	C169292244T	LRP2	NM_004525.3(LRP2):c.769+9G>A	noncoding	Benign
2	169294161	G	A	G169294161A	LRP2	NM_004525.3(LRP2):c.639C>T:p.Asp213=	coding	Benign
2	169307306	G	T	G169307306T	LRP2	NM_004525.3(LRP2):c.402C>A:p.Pro134=	coding	Benign
2	169307317	T	C	T169307317C	LRP2	NM_004525.3(LRP2):c.391A>G:p.Arg131Gly	coding	Benign/Likely_benign
2	169318824	T	C	T169318824C	LRP2	NM_004525.3(LRP2):c.248A>G:p.Asn83Ser	coding	Benign
2	169320815	G	C	G169320815C	LRP2	NM_004525.3(LRP2):c.149C>G:p.Thr50Ser	coding	Benign/Likely_benign
2	169320872	G	A	G169320872A	LRP2	NM_004525.3(LRP2):c.92C>T:p.Ala31Val	coding	Benign
2	169362306	T	C	T169362306C	LRP2	NM_004525.3(LRP2):c.79+15A>G	noncoding	Benign
2	169362314	C	T	C169362314T	LRP2	NM_004525.3(LRP2):c.79+7G>A	noncoding	Benign
2	169362337	C	G	C169362337G	LRP2	NM_004525.3(LRP2):c.63G>C:p.Ala21=	coding	Benign
2	169479514	G	C	G169479514C	BBS5	NM_152384.3(BBS5):c.-40G>C	noncoding	Benign
2	169479555	T	A	T169479555A	BBS5	NM_152384.3(BBS5):c.2T>A:p.Met1Lys	coding	Pathogenic
2	169479592	C	G	C169479592G	BBS5	NM_152384.3(BBS5):c.39C>G:p.Val13=	coding	Benign
2	169482299	C	T	C169482299T	BBS5	NM_152384.3(BBS5):c.108C>T:p.Ser36=	coding	Benign
2	169487068	G	A	G169487068A	BBS5	NM_152384.3(BBS5):c.143-1G>A	noncoding	Pathogenic
2	169487092	A	G	A169487092G	BBS5	NM_152384.3(BBS5):c.166A>G:p.Arg56Gly	coding	Pathogenic
2	169487103	G	A	G169487103A	BBS5	NM_152384.3(BBS5):c.177G>A:p.Trp59Ter	coding	Pathogenic
2	169487116	T	C	T169487116C	BBS5	NM_152384.3(BBS5):c.190T>C:p.Leu64=	coding	Benign
2	169487804	A	G	A169487804G	BBS5	NM_152384.3(BBS5):c.209-2A>G	noncoding	Pathogenic
2	169487811	G	A	G169487811A	BBS5	NM_152384.3(BBS5):c.214G>A:p.Gly72Ser	coding	Pathogenic
2	169487857	T	C	T169487857C	BBS5	NM_152384.3(BBS5):c.258+2T>C	noncoding	Pathogenic
2	169487993	C	T	C169487993T	BBS5	NM_152384.3(BBS5):c.265C>T:p.Arg89Ter	coding	Pathogenic
2	169488013	C	T	C169488013T	BBS5	NM_152384.3(BBS5):c.285C>T:p.Leu95=	coding	Benign
2	169492900	G	A	G169492900A	BBS5	NM_152384.3(BBS5):c.413G>A:p.Arg138His	coding	Pathogenic
2	169492912	T	A	T169492912A	BBS5	NM_152384.3(BBS5):c.425T>A:p.Leu142Ter	coding	Pathogenic
2	169492988	T	A	T169492988A	BBS5	NM_152384.3(BBS5):c.501T>A:p.Val167=	coding	Benign
2	169493012	A	G	A169493012G	BBS5	NM_152384.3(BBS5):c.522+3A>G	noncoding	Pathogenic
2	169493765	A	G	A169493765G	BBS5	NM_152384.3(BBS5):c.547A>G:p.Thr183Ala	coding	Pathogenic
2	169493785	G	A	G169493785A	BBS5	NM_152384.3(BBS5):c.567G>A:p.Trp189Ter	coding	Pathogenic
2	169497626	G	C	G169497626C	BBS5	NM_152384.3(BBS5):c.619-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	169497628	G	A	G169497628A	BBS5	NM_152384.3(BBS5):c.620G>A:p.Arg207His	coding	Benign
2	169499554	C	T	C169499554T	BBS5	NM_152384.3(BBS5):c.750C>T:p.Ile250=	coding	Benign/Likely_benign
2	169503090	T	G	T169503090G	BBS5	NM_152384.3(BBS5):c.817-5T>G	noncoding	Benign
2	169509786	C	T	C169509786T	KLHL41	NM_006063.3(KLHL41):c.8C>T:p.Ser3Phe	coding	Benign
2	169509793	G	A	G169509793A	KLHL41	NM_006063.3(KLHL41):c.15G>A:p.Arg5=	coding	Benign
2	169510297	A	G	A169510297G	KLHL41	NM_006063.3(KLHL41):c.519A>G:p.Gln173=	coding	Benign
2	169510430	G	A	G169510430A	KLHL41	NM_006063.3(KLHL41):c.652G>A:p.Val218Met	coding	Benign
2	169510462	A	C	A169510462C	KLHL41	NM_006063.3(KLHL41):c.684A>C:p.Thr228=	coding	Benign
2	169510589	G	A	G169510589A	KLHL41	NM_006063.3(KLHL41):c.811G>A:p.Ala271Thr	coding	Benign
2	169510641	T	G	T169510641G	KLHL41	NM_006063.3(KLHL41):c.863T>G:p.Leu288Arg	coding	Benign
2	169514701	C	T	C169514701T	KLHL41	NM_006063.3(KLHL41):c.1238C>T:p.Ser413Leu	coding	Pathogenic
2	169514714	A	G	A169514714G	KLHL41	NM_006063.3(KLHL41):c.1251A>G:p.Val417=	coding	Benign
2	169518254	A	G	A169518254G	KLHL41	NM_006063.3(KLHL41):c.1441A>G:p.Met481Val	coding	Benign/Likely_benign
2	169525612	T	C	T169525612C	KLHL41	NM_006063.3(KLHL41):c.1737T>C:p.Ala579=	coding	Benign
2	169531376	G	C	G169531376C	FASTKD1	NM_024622.6(FASTKD1):c.2303C>G:p.Ser768Ter	coding	Benign
2	169531449	A	T	A169531449T	FASTKD1	NM_024622.6(FASTKD1):c.2230T>A:p.Tyr744Asn	coding	Pathogenic
2	169606064	T	A	T169606064A	PPIG	NM_004792.3(PPIG):c.162T>A:p.Thr54=	coding	Benign
2	169636743	A	G	A169636743G	PPIG	NM_004792.3(PPIG):c.1485A>G:p.Glu495=	coding	Benign
2	169637167	C	G	C169637167G	PPIG	NM_004792.3(PPIG):c.1909C>G:p.Gln637Glu	coding	Benign
2	169637274	T	C	T169637274C	PPIG	NM_004792.3(PPIG):c.2016T>C:p.Asn672=	coding	Benign
2	169735805	A	G	A169735805G	KLHL23	NM_144711.6(KLHL23):c.791A>G:p.His264Arg	coding	Benign
2	169800972	T	C	T169800972C	SSB	NM_003142.5(SSB):c.12T>C:p.Asn4=	coding	Benign
2	170008896	G	A	G170008896A	UBR3	NM_172070.4(UBR3):c.4323G>A:p.Pro1441=	coding	Benign
2	170217316	T	C	T170217316C	MYO3B	NM_138995.5(MYO3B):c.527-3T>C	noncoding	Benign
2	170369229	A	G	A170369229G	MYO3B	NM_138995.5(MYO3B):c.823A>G:p.Ile275Val	coding	Benign
2	170542920	A	G	A170542920G	MYO3B	NM_138995.5(MYO3B):c.3590A>G:p.Gln1197Arg	coding	Benign
2	170543884	T	C	T170543884C	MYO3B	NM_138995.5(MYO3B):c.3637-8T>C	noncoding	Benign
2	170816868	G	A	G170816868A	GAD1	NM_013445.3(GAD1):c.-248G>A	noncoding	Benign
2	170816954	G	A	G170816954A	GAD1	NM_000817.3(GAD1):c.-158G>A	noncoding	Benign
2	170816965	G	A	G170816965A	GAD1	NM_000817.3(GAD1):c.-147G>A	noncoding	Benign
2	170818626	C	G	C170818626G	GAD1	NM_000817.3(GAD1):c.35C>G:p.Ser12Cys	coding	Pathogenic
2	170818671	C	A	C170818671A	GAD1	NM_000817.3(GAD1):c.80C>A:p.Thr27Lys	coding	Benign
2	170822115	T	C	T170822115C	GAD1	NM_000817.3(GAD1):c.111T>C:p.His37=	coding	Benign
2	170846075	G	A	G170846075A	GAD1	NM_000817.3(GAD1):c.1002+12G>A	noncoding	Benign
2	170857054	C	T	C170857054T	GAD1	NM_000817.3(GAD1):c.1450C>T:p.Leu484=	coding	Benign
2	170857077	T	C	T170857077C	GAD1	NM_000817.3(GAD1):c.1473T>C:p.Tyr491=	coding	Benign/Likely_benign
2	170858877	G	A	G170858877A	GAD1	NM_000817.3(GAD1):c.1595G>A:p.Arg532Gln	coding	Benign
2	170859949	A	G	A170859949G	GAD1	NM_000817.3(GAD1):c.*67A>G	noncoding	Benign
2	170860395	C	T	C170860395T	GAD1	NM_000817.3(GAD1):c.*513C>T	noncoding	Benign
2	170860582	C	T	C170860582T	GAD1	NM_000817.3(GAD1):c.*700C>T	noncoding	Benign
2	170860685	T	C	T170860685C	GAD1	NM_000817.3(GAD1):c.*803T>C	noncoding	Benign
2	170860890	C	T	C170860890T	GAD1	NM_000817.3(GAD1):c.*1008C>T	noncoding	Benign
2	170965849	C	T	C170965849T	GORASP2	NM_015530.5(GORASP2):c.1078C>T:p.Leu360=	coding	Benign
2	170966015	C	T	C170966015T	GORASP2	NM_015530.5(GORASP2):c.1244C>T:p.Thr415Met	coding	Benign
2	171331828	A	C	A171331828C	METTL8	NM_001321157.2(METTL8):c.840T>G:p.Ala280=	coding	Benign
2	171434662	C	T	C171434662T	DCAF17	NM_025000.4(DCAF17):c.85C>T:p.Gln29Ter	coding	Pathogenic
2	171435068	C	A	C171435068A	DCAF17	NM_025000.4(DCAF17):c.127-15C>A	noncoding	Benign/Likely_benign
2	171435106	C	T	C171435106T	DCAF17	NM_025000.4(DCAF17):c.150C>T:p.Val50=	coding	Benign
2	171448667	C	T	C171448667T	DCAF17	NM_025000.4(DCAF17):c.322-14C>T	noncoding	Benign
2	171448700	C	A	C171448700A	DCAF17	NM_025000.4(DCAF17):c.341C>A:p.Ser114Ter	coding	Pathogenic
2	171448746	G	A	G171448746A	DCAF17	NM_025000.4(DCAF17):c.387G>A:p.Trp129Ter	coding	Pathogenic
2	171453141	T	A	T171453141A	DCAF17	NM_025000.4(DCAF17):c.555T>A:p.His185Gln	coding	Benign
2	171468955	G	A	G171468955A	DCAF17	NM_025000.4(DCAF17):c.906G>A:p.Trp302Ter	coding	Pathogenic
2	171468988	G	A	G171468988A	DCAF17	NM_025000.4(DCAF17):c.939G>A:p.Gln313=	coding	Benign
2	171473883	A	G	A171473883G	DCAF17	NM_025000.4(DCAF17):c.999A>G:p.Gln333=	coding	Benign
2	171473981	T	G	T171473981G	DCAF17	NM_025000.4(DCAF17):c.1091+6T>G	noncoding	Pathogenic
2	171480031	C	T	C171480031T	DCAF17	NM_025000.4(DCAF17):c.1267-7C>T	noncoding	Benign
2	171480091	T	C	T171480091C	DCAF17	NM_025000.4(DCAF17):c.1320T>C:p.Ala440=	coding	Benign
2	171480198	G	T	G171480198T	DCAF17	NM_025000.4(DCAF17):c.1422+5G>T	noncoding	Pathogenic
2	171481302	T	A	T171481302A	DCAF17	NM_025000.4(DCAF17):c.*188T>A	noncoding	Benign
2	171481464	G	A	G171481464A	DCAF17	NM_025000.4(DCAF17):c.*350G>A	noncoding	Benign
2	171481492	T	C	T171481492C	DCAF17	NM_025000.4(DCAF17):c.*378T>C	noncoding	Benign
2	171481684	G	A	G171481684A	DCAF17	NM_025000.4(DCAF17):c.*570G>A	noncoding	Benign
2	171481790	T	G	T171481790G	DCAF17	NM_025000.4(DCAF17):c.*676T>G	noncoding	Benign
2	171482119	A	G	A171482119G	DCAF17	NM_025000.4(DCAF17):c.*1005A>G	noncoding	Benign
2	171482148	G	A	G171482148A	DCAF17	NM_025000.4(DCAF17):c.*1034G>A	noncoding	Benign
2	171482635	A	G	A171482635G	DCAF17	NM_025000.4(DCAF17):c.*1521A>G	noncoding	Benign
2	171483079	A	G	A171483079G	DCAF17	NM_025000.4(DCAF17):c.*1965A>G	noncoding	Benign
2	171483297	C	G	C171483297G	DCAF17	NM_025000.4(DCAF17):c.*2183C>G	noncoding	Benign
2	171483454	C	T	C171483454T	DCAF17	NM_025000.4(DCAF17):c.*2340C>T	noncoding	Benign
2	171483462	G	A	G171483462A	DCAF17	NM_025000.4(DCAF17):c.*2348G>A	noncoding	Benign
2	171483539	T	A	T171483539A	DCAF17	NM_025000.4(DCAF17):c.*2425T>A	noncoding	Benign
2	171483587	G	A	G171483587A	DCAF17	NM_025000.4(DCAF17):c.*2473G>A	noncoding	Benign
2	171483889	G	T	G171483889T	DCAF17	NM_025000.4(DCAF17):c.*2775G>T	noncoding	Benign
2	171483909	T	C	T171483909C	DCAF17	NM_025000.4(DCAF17):c.*2795T>C	noncoding	Benign
2	171484226	C	G	C171484226G	DCAF17	NM_025000.4(DCAF17):c.*3112C>G	noncoding	Benign
2	171484817	A	G	A171484817G	DCAF17	NM_025000.4(DCAF17):c.*3703A>G	noncoding	Benign
2	171484826	A	G	A171484826G	DCAF17	NM_025000.4(DCAF17):c.*3712A>G	noncoding	Benign
2	171484943	G	A	G171484943A	DCAF17	NM_025000.4(DCAF17):c.*3829G>A	noncoding	Benign
2	171725602	T	G	T171725602G	DYNC1I2	NM_001378.3(DYNC1I2):c.512-16T>G	noncoding	Benign
2	171725714	G	A	G171725714A	DYNC1I2	NM_001378.3(DYNC1I2):c.607+1G>A	coding	Pathogenic
2	171726051	A	G	A171726051G	DYNC1I2	NM_001378.3(DYNC1I2):c.740A>G:p.Tyr247Cys	coding	Pathogenic
2	171726291	C	T	C171726291T	DYNC1I2	NM_001378.3(DYNC1I2):c.868C>T:p.Gln290Ter	coding	Pathogenic
2	171787612	A	G	A171787612G	SLC25A12	NM_003705.5(SLC25A12):c.1794T>C:p.Tyr598=	coding	Benign
2	171787637	T	C	T171787637C	SLC25A12	NM_003705.5(SLC25A12):c.1769A>G:p.Gln590Arg	coding	Pathogenic
2	171791578	C	T	C171791578T	SLC25A12	NM_003705.5(SLC25A12):c.1458G>A:p.Ala486=	coding	Benign/Likely_benign
2	171793655	C	T	C171793655T	SLC25A12	NM_003705.5(SLC25A12):c.1418G>A:p.Arg473Gln	coding	Benign
2	171793735	T	G	T171793735G	SLC25A12	NM_003705.5(SLC25A12):c.1338A>C:p.Pro446=	coding	Benign
2	171813322	G	C	G171813322C	SLC25A12	NM_003705.5(SLC25A12):c.1171+17C>G	noncoding	Benign
2	171815176	G	T	G171815176T	SLC25A12	NM_003705.5(SLC25A12):c.957C>A:p.Ile319=	coding	Benign
2	171834750	C	T	C171834750T	SLC25A12	NM_003705.5(SLC25A12):c.728G>A:p.Arg243Lys	coding	Benign
2	171837270	G	A	G171837270A	SLC25A12	NM_003705.5(SLC25A12):c.466-3C>T	noncoding	Benign
2	171868791	A	G	A171868791G	SLC25A12	NM_003705.5(SLC25A12):c.99T>C:p.Tyr33=	coding	Benign
2	172101552	C	A	C172101552A	DLX2	NM_004405.4(DLX2):c.495G>T:p.Ala165=	coding	Benign
2	172102284	C	G	C172102284G	DLX2	NM_004405.4(DLX2):c.255G>C:p.Ala85=	coding	Benign
2	172427651	G	A	G172427651A	ITGA6	NM_001079818.3(ITGA6):c.-138G>A	noncoding	Benign
2	172427775	C	G	C172427775G	ITGA6	NM_001079818.3(ITGA6):c.-14C>G	noncoding	Benign
2	172427981	A	G	A172427981G	ITGA6	NM_001079818.3(ITGA6):c.182+11A>G	noncoding	Benign
2	172427985	C	T	C172427985T	ITGA6	NM_001079818.3(ITGA6):c.182+15C>T	noncoding	Benign
2	172469112	C	A	C172469112A	ITGA6	NM_001079818.3(ITGA6):c.388-13C>A	noncoding	Benign
2	172474279	A	C	A172474279C	ITGA6	NM_001079818.3(ITGA6):c.986+14A>C	noncoding	Benign
2	172475080	G	A	G172475080A	ITGA6	NM_001079818.3(ITGA6):c.1138G>A:p.Ala380Thr	coding	Benign
2	172476521	A	T	A172476521T	ITGA6	NM_001079818.3(ITGA6):c.1388+8A>T	noncoding	Benign
2	172479746	A	G	A172479746G	ITGA6	NM_001079818.3(ITGA6):c.1487+7A>G	noncoding	Benign
2	172485154	A	G	A172485154G	ITGA6	NM_001079818.3(ITGA6):c.1744A>G:p.Ile582Val	coding	Benign
2	172487375	C	T	C172487375T	ITGA6	NM_001079818.3(ITGA6):c.2082C>T:p.Asp694=	coding	Benign
2	172487429	A	T	A172487429T	ITGA6	NM_001079818.3(ITGA6):c.2136A>T:p.Ala712=	coding	Benign
2	172487730	C	G	C172487730G	ITGA6	NM_001079818.3(ITGA6):c.2247C>G:p.Val749=	coding	Benign/Likely_benign
2	172487779	G	T	G172487779T	ITGA6	NM_001079818.3(ITGA6):c.2296G>T:p.Asp766Tyr	coding	Benign
2	172488237	G	C	G172488237C	ITGA6	NM_001079818.3(ITGA6):c.2505+9G>C	noncoding	Benign/Likely_benign
2	172489517	C	T	C172489517T	ITGA6	NM_001079818.3(ITGA6):c.2538C>T:p.Leu846=	coding	Benign/Likely_benign
2	172491072	G	A	G172491072A	ITGA6	NM_001079818.3(ITGA6):c.2728G>A:p.Asp910Asn	coding	Benign/Likely_benign
2	172491230	G	A	G172491230A	ITGA6	NM_001079818.3(ITGA6):c.2788G>A:p.Val930Met	coding	Benign
2	172491262	G	A	G172491262A	ITGA6	NM_001079818.3(ITGA6):c.2820G>A:p.Pro940=	coding	Benign
2	172491304	G	C	G172491304C	ITGA6	NM_001079818.3(ITGA6):c.2862G>C:p.Ser954=	coding	Benign
2	172497969	C	T	C172497969T	ITGA6	NM_001079818.3(ITGA6):c.2989-6C>T	noncoding	Benign
2	172501879	G	A	G172501879A	ITGA6	NM_001079818.3(ITGA6):c.3115-2212G>A	coding	Benign/Likely_benign
2	172504126	T	C	T172504126C	ITGA6	NM_001079818.3(ITGA6):c.3150T>C:p.Ser1050=	coding	Benign
2	172504503	A	G	A172504503G	ITGA6	NM_001079818.3(ITGA6):c.*251A>G	noncoding	Benign
2	172504663	C	T	C172504663T	ITGA6	NM_001079818.3(ITGA6):c.*411C>T	noncoding	Benign
2	172505262	A	G	A172505262G	ITGA6	NM_001079818.3(ITGA6):c.*1010A>G	noncoding	Benign
2	172505527	G	T	G172505527T	ITGA6	NM_001079818.3(ITGA6):c.*1275G>T	noncoding	Benign
2	172505723	G	T	G172505723T	ITGA6	NM_001079818.3(ITGA6):c.*1471G>T	noncoding	Benign
2	172505877	T	C	T172505877C	ITGA6	NM_001079818.3(ITGA6):c.*1625T>C	noncoding	Benign
2	172506156	T	G	T172506156G	ITGA6	NM_001079818.3(ITGA6):c.*1904T>G	noncoding	Benign
2	172506377	C	T	C172506377T	ITGA6	NM_001079818.3(ITGA6):c.*2125C>T	noncoding	Benign
2	172506417	T	C	T172506417C	ITGA6	NM_001079818.3(ITGA6):c.*2165T>C	noncoding	Benign
2	172506442	T	C	T172506442C	ITGA6	NM_001079818.3(ITGA6):c.*2190T>C	noncoding	Benign
2	172961223	A	G	A172961223G	RAPGEF4	NM_007023.4(RAPGEF4):c.693A>G:p.Thr231=	coding	Benign
2	172967362	T	C	T172967362C	RAPGEF4	NM_007023.4(RAPGEF4):c.922T>C:p.Cys308Arg	coding	Benign
2	172996521	A	G	A172996521G	RAPGEF4	NM_007023.4(RAPGEF4):c.1546A>G:p.Ile516Val	coding	Benign
2	173001330	G	A	G173001330A	RAPGEF4	NM_007023.4(RAPGEF4):c.1644G>A:p.Pro548=	coding	Benign
2	173018762	C	T	C173018762T	RAPGEF4	NM_007023.4(RAPGEF4):c.2115C>T:p.Ser705=	coding	Benign
2	173018765	G	A	G173018765A	RAPGEF4	NM_007023.4(RAPGEF4):c.2118G>A:p.Gly706=	coding	Benign
2	173182851	T	C	T173182851C	MAP3K20	NM_016653.3(MAP3K20):c.248-3T>C	noncoding	Benign
2	173191110	G	A	G173191110A	MAP3K20	NM_016653.3(MAP3K20):c.515G>A:p.Trp172Ter	coding	Pathogenic
2	173209784	C	T	C173209784T	MAP3K20	NM_016653.3(MAP3K20):c.800C>T:p.Thr267Met	coding	Benign
2	173209827	G	A	G173209827A	MAP3K20	NM_016653.3(MAP3K20):c.843G>A:p.Ala281=	coding	Benign
2	173232359	T	G	T173232359G	MAP3K20	NM_016653.3(MAP3K20):c.1103T>G:p.Phe368Cys	coding	Pathogenic
2	173266394	C	T	C173266394T	MAP3K20	NM_016653.3(MAP3K20):c.2047C>T:p.Arg683Cys	coding	Benign
2	173266698	A	C	A173266698C	MAP3K20	NM_016653.3(MAP3K20):c.2351A>C:p.Lys784Thr	coding	Benign
2	173363322	A	C	A173363322C	CDCA7	NM_031942.5(CDCA7):c.481A>C:p.Arg161=	coding	Benign
2	173364899	G	A	G173364899A	CDCA7	NM_031942.5(CDCA7):c.804G>A:p.Gly268=	coding	Benign
2	173366304	C	T	C173366304T	CDCA7	NM_031942.5(CDCA7):c.1057C>T:p.Arg353Cys	coding	Pathogenic
2	173366305	G	A	G173366305A	CDCA7	NM_031942.5(CDCA7):c.1058G>A:p.Arg353His	coding	Pathogenic
2	173366324	C	G	C173366324G	CDCA7	NM_031942.5(CDCA7):c.1077C>G:p.Thr359=	coding	Benign
2	173366357	C	T	C173366357T	CDCA7	NM_031942.5(CDCA7):c.1110C>T:p.Gly370=	coding	Benign
2	173366395	G	A	G173366395A	CDCA7	NM_031942.5(CDCA7):c.1148G>A:p.Arg383His	coding	Pathogenic
2	173910145	T	G	T173910145G	SP3	NM_003111.4(SP3):c.2142A>C:p.Thr714=	coding	Benign
2	173918700	G	A	G173918700A	SP3	NM_003111.4(SP3):c.1725C>T:p.His575=	coding	Benign
2	173954946	T	C	T173954946C	SP3	NM_003111.4(SP3):c.1566A>G:p.Gln522=	coding	Benign
2	174440032	A	G	A174440032G	GPR155	NM_152529.7(GPR155):c.2178T>C:p.Leu726=	coding	Benign
2	174442157	T	C	T174442157C	GPR155	NM_001033045.4(GPR155):c.2136A>G:p.Gly712=	coding	Benign
2	174460053	G	A	G174460053A	GPR155	NM_001033045.4(GPR155):c.1596C>T:p.Ile532=	coding	Benign
2	174469004	A	G	A174469004G	GPR155	NM_152529.7(GPR155):c.1090T>C:p.Leu364=	coding	Benign
2	174567080	G	A	G174567080A	WIPF1	NM_001375834.1(WIPF1):c.1446C>T:p.Asn482=	coding	Benign/Likely_benign
2	174567113	C	T	C174567113T	WIPF1	NM_001077269.1(WIPF1):c.1413G>A:p.Thr471=	coding	Benign
2	174567902	G	C	G174567902C	WIPF1	NM_001077269.1(WIPF1):c.1301C>G:p.Ser434Ter	coding	Pathogenic
2	174567907	T	C	T174567907C	WIPF1	NM_001077269.1(WIPF1):c.1296A>G:p.Pro432=	coding	Benign
2	174567976	A	G	A174567976G	WIPF1	NM_001375834.1(WIPF1):c.1227T>C:p.Ser409=	coding	Benign
2	174568039	G	A	G174568039A	WIPF1	NM_001375834.1(WIPF1):c.1164C>T:p.Asn388=	coding	Benign
2	174572096	G	A	G174572096A	WIPF1	NM_001375834.1(WIPF1):c.709C>T:p.Gln237Ter	coding	Pathogenic
2	174572212	G	A	G174572212A	WIPF1	NM_001375834.1(WIPF1):c.593C>T:p.Pro198Leu	coding	Benign
2	174575223	G	C	G174575223C	WIPF1	NM_001077269.1(WIPF1):c.339C>G:p.Ser113=	coding	Benign
2	174575354	C	T	C174575354T	WIPF1	NM_001077269.1(WIPF1):c.208G>A:p.Gly70Ser	coding	Benign/Likely_benign
2	174581413	A	G	A174581413G	WIPF1	NM_001077269.1(WIPF1):c.78T>C:p.Asn26=	coding	Benign
2	174585532	C	T	C174585532T	WIPF1	NM_001077269.1(WIPF1):c.42G>A:p.Thr14=	coding	Benign
2	174747698	G	T	G174747698T	CHRNA1	NM_001039523.3(CHRNA1):c.*426C>A	noncoding	Benign
2	174747906	G	A	G174747906A	CHRNA1	NM_000079.4(CHRNA1):c.*218C>T	noncoding	Benign/Likely_benign
2	174748177	C	T	C174748177T	CHRNA1	NM_001039523.3(CHRNA1):c.1396G>A:p.Gly466Arg	coding	Pathogenic/Likely_pathogenic
2	174748184	G	C	G174748184C	CHRNA1	NM_001039523.3(CHRNA1):c.1389C>G:p.Cys463Trp	coding	Pathogenic
2	174748293	G	A	G174748293A	CHRNA1	NM_001039523.3(CHRNA1):c.1318-38C>T	noncoding	Benign
2	174748331	A	C	A174748331C	CHRNA1	NM_001039523.3(CHRNA1):c.1318-76T>G	noncoding	Benign
2	174748387	G	A	G174748387A	CHRNA1	NM_001039523.3(CHRNA1):c.1318-132C>T	noncoding	Benign
2	174748441	A	C	A174748441C	CHRNA1	NM_001039523.3(CHRNA1):c.1317+139T>G	noncoding	Benign
2	174748545	A	T	A174748545T	CHRNA1	NM_001039523.3(CHRNA1):c.1317+35T>A	noncoding	Benign
2	174748589	C	A	C174748589A	CHRNA1	NM_001039523.3(CHRNA1):c.1308G>T:p.Glu436Asp	coding	Benign/Likely_benign
2	174748749	T	A	T174748749A	CHRNA1	NM_001039523.3(CHRNA1):c.1148A>T:p.Asp383Val	coding	Benign
2	174748872	T	C	T174748872C	CHRNA1	NM_001039523.3(CHRNA1):c.1078-53A>G	noncoding	Benign
2	174749988	G	A	G174749988A	CHRNA1	NM_001039523.3(CHRNA1):c.1035C>T:p.His345=	coding	Benign
2	174750035	C	T	C174750035T	CHRNA1	NM_001039523.3(CHRNA1):c.988G>A:p.Val330Ile	coding	Pathogenic
2	174750082	C	A	C174750082A	CHRNA1	NM_001039523.3(CHRNA1):c.941G>T:p.Ser314Ile	coding	Pathogenic
2	174750104	C	A	C174750104A	CHRNA1	NM_000079.4(CHRNA1):c.844G>T:p.Glu282Ter	coding	Pathogenic
2	174750122	A	G	A174750122G	CHRNA1	NM_001039523.3(CHRNA1):c.901T>C:p.Phe301Leu	coding	Pathogenic
2	174750127	G	A	G174750127A	CHRNA1	NM_001039523.3(CHRNA1):c.896C>T:p.Thr299Ile	coding	Pathogenic
2	174750304	C	T	C174750304T	CHRNA1	NM_001039523.3(CHRNA1):c.854-135G>A	noncoding	Benign
2	174753524	A	C	A174753524C	CHRNA1	NM_001039523.3(CHRNA1):c.832T>G:p.Phe278Val	coding	Pathogenic
2	174753544	G	T	G174753544T	CHRNA1	NM_001039523.3(CHRNA1):c.812C>A:p.Ser271Tyr	coding	Pathogenic
2	174753558	G	A	G174753558A	CHRNA1	NM_001039523.3(CHRNA1):c.798C>T:p.Pro266=	coding	Benign/Likely_benign
2	174753570	G	C	G174753570C	CHRNA1	NM_001039523.3(CHRNA1):c.786C>G:p.Asn262Lys	coding	Pathogenic
2	174753570	G	T	G174753570T	CHRNA1	NM_001039523.3(CHRNA1):c.786C>A:p.Asn262Lys	coding	Pathogenic
2	174753595	C	A	C174753595A	CHRNA1	NM_001039523.3(CHRNA1):c.761G>T:p.Arg254Leu	coding	Pathogenic
2	174753638	C	T	C174753638T	CHRNA1	NM_001039523.3(CHRNA1):c.718G>A:p.Asp240Asn	coding	Benign/Likely_benign
2	174753660	G	A	G174753660A	CHRNA1	NM_001039523.3(CHRNA1):c.696C>T:p.Ser232=	coding	Benign/Likely_benign
2	174754215	C	G	C174754215G	CHRNA1	NM_001039523.3(CHRNA1):c.615+4G>C	noncoding	Benign
2	174754242	C	T	C174754242T	CHRNA1	NM_001039523.3(CHRNA1):c.592G>A:p.Gly198Ser	coding	Pathogenic
2	174754305	C	G	C174754305G	CHRNA1	NM_001039523.3(CHRNA1):c.529G>C:p.Val177Leu	coding	Pathogenic
2	174754389	T	A	T174754389A	CHRNA1	NM_000079.4(CHRNA1):c.370A>T:p.Lys124Ter	coding	Pathogenic
2	174758060	G	A	G174758060A	CHRNA1	NM_001039523.3(CHRNA1):c.235-40C>T	noncoding	Benign
2	174759035	C	T	C174759035T	CHRNA1	NM_001039523.3(CHRNA1):c.234+296G>A	noncoding	Benign
2	174759502	G	A	G174759502A	CHRNA1	NM_001039523.3(CHRNA1):c.175C>T:p.Gln59Ter	coding	Pathogenic
2	174759869	G	A	G174759869A	CHRNA1	NM_001039523.3(CHRNA1):c.44-236C>T	noncoding	Benign
2	174764119	T	C	T174764119C	CHRNA1	NM_001039523.3(CHRNA1):c.43+233A>G	noncoding	Benign
2	174764293	C	A	C174764293A	CHRNA1	NM_001039523.3(CHRNA1):c.43+59G>T	noncoding	Benign
2	174799439	C	T	C174799439T	CHN1	NM_001822.7(CHN1):c.*677G>A	noncoding	Benign
2	174800088	A	G	A174800088G	CHN1	NM_001822.7(CHN1):c.*28T>C	noncoding	Benign
2	174800128	G	A	G174800128A	CHN1	NM_001822.7(CHN1):c.1368C>T:p.Asp456=	coding	Benign
2	174811538	C	T	C174811538T	CHN1	NM_001822.7(CHN1):c.937G>A:p.Glu313Lys	coding	Pathogenic
2	174811560	T	C	T174811560C	CHN1	NM_001822.7(CHN1):c.915A>G:p.Val305=	coding	Benign
2	174811569	T	C	T174811569C	CHN1	NM_001822.7(CHN1):c.906A>G:p.Leu302=	coding	Benign
2	174812294	C	T	C174812294T	CHN1	NM_001822.7(CHN1):c.886+15G>A	noncoding	Benign
2	174812440	G	T	G174812440T	CHN1	NM_001822.7(CHN1):c.755C>A:p.Pro252Gln	coding	Pathogenic
2	174812441	G	A	G174812441A	CHN1	NM_001822.7(CHN1):c.754C>T:p.Pro252Ser	coding	Pathogenic
2	174824464	C	T	C174824464T	CHN1	NM_001822.7(CHN1):c.682G>A:p.Gly228Ser	coding	Pathogenic
2	174824478	G	A	G174824478A	CHN1	NM_001822.7(CHN1):c.668C>T:p.Ala223Val	coding	Pathogenic
2	174824485	A	G	A174824485G	CHN1	NM_001822.7(CHN1):c.661T>C:p.Tyr221His	coding	Pathogenic
2	174877962	A	G	A174877962G	CHN1	NM_001822.7(CHN1):c.427T>C:p.Tyr143His	coding	Pathogenic
2	174877967	G	A	G174877967A	CHN1	NM_001822.7(CHN1):c.422C>T:p.Pro141Leu	coding	Pathogenic
2	174878011	A	C	A174878011C	CHN1	NM_001822.7(CHN1):c.378T>G:p.Ile126Met	coding	Pathogenic
2	174944935	G	A	G174944935A	CHN1	NM_001822.7(CHN1):c.67C>T:p.Leu23=	coding	Benign/Likely_benign
2	174944936	C	T	C174944936T	CHN1	NM_001822.7(CHN1):c.66G>A:p.Gln22=	coding	Benign
2	174944942	T	A	T174944942A	CHN1	NM_001822.7(CHN1):c.60A>T:p.Leu20Phe	coding	Pathogenic
2	175004980	C	T	C175004980T	CHN1	NM_001822.7(CHN1):c.-68G>A	noncoding	Benign
2	175074807	G	A	G175074807A	ATF2	NM_001880.4(ATF2):c.1320C>T:p.Asp440=	coding	Benign
2	175093202	G	A	G175093202A	ATF2	NM_001880.4(ATF2):c.1044C>T:p.Asn348=	coding	Benign
2	175178369	A	G	A175178369G	ATP5MC3	NM_001689.5(ATP5MC3):c.348T>C:p.Tyr116=	coding	Benign
2	175180088	C	T	C175180088T	ATP5MC3	NM_001689.5(ATP5MC3):c.120+10G>A	noncoding	Benign
2	175180161	T	C	T175180161C	ATP5MC3	NM_001689.5(ATP5MC3):c.57A>G:p.Arg19=	coding	Benign
2	175939613	G	A	G175939613A	LNPK	NM_030650.3(LNPK):c.751C>T:p.Arg251Ter	coding	Pathogenic
2	175995609	A	T	A175995609T	LNPK	NM_030650.3(LNPK):c.-25T>A	coding	Benign
2	176080575	G	C	G176080575C	EVX2	NM_001080458.1(EVX2):c.963C>G:p.Thr321=	coding	Benign
2	176092931	C	T	C176092931T	HOXD13	NM_000523.4(HOXD13):c.41C>T:p.Ala14Val	coding	Benign/Likely_benign
2	176093094	G	A	G176093094A	HOXD13	NM_000523.4(HOXD13):c.204G>A:p.Ala68=	coding	Benign
2	176093157	G	A	G176093157A	HOXD13	NM_000523.4(HOXD13):c.267G>A:p.Ser89=	coding	Benign
2	176093204	A	C	A176093204C	HOXD13	NM_000523.4(HOXD13):c.314A>C:p.Lys105Thr	coding	Benign
2	176093283	C	T	C176093283T	HOXD13	NM_000523.4(HOXD13):c.393C>T:p.Phe131=	coding	Benign
2	176093390	A	G	A176093390G	HOXD13	NM_000523.4(HOXD13):c.500A>G:p.Tyr167Cys	coding	Benign
2	176093573	G	C	G176093573C	HOXD13	NM_000523.4(HOXD13):c.683G>C:p.Gly228Ala	coding	Pathogenic
2	176093573	G	T	G176093573T	HOXD13	NM_000523.4(HOXD13):c.683G>T:p.Gly228Val	coding	Pathogenic
2	176093632	C	T	C176093632T	HOXD13	NM_000523.4(HOXD13):c.742C>T:p.Gln248Ter	coding	Pathogenic
2	176093672	G	A	G176093672A	HOXD13	NM_000523.4(HOXD13):c.781+1G>A	coding	Pathogenic
2	176094518	C	T	C176094518T	HOXD13	NM_000523.4(HOXD13):c.820C>T:p.Arg274Ter	coding	Pathogenic/Likely_pathogenic
2	176094614	C	G	C176094614G	HOXD13	NM_000523.4(HOXD13):c.916C>G:p.Arg306Gly	coding	Pathogenic
2	176094614	C	T	C176094614T	HOXD13	NM_000523.4(HOXD13):c.916C>T:p.Arg306Trp	coding	Pathogenic
2	176094615	G	A	G176094615A	HOXD13	NM_000523.4(HOXD13):c.917G>A:p.Arg306Gln	coding	Pathogenic
2	176094645	C	G	C176094645G	HOXD13	NM_000523.4(HOXD13):c.947C>G:p.Ser316Cys	coding	Pathogenic
2	176094662	A	C	A176094662C	HOXD13	NM_000523.4(HOXD13):c.964A>C:p.Ile322Leu	coding	Pathogenic
2	176094671	C	A	C176094671A	HOXD13	NM_000523.4(HOXD13):c.973C>A:p.Gln325Lys	coding	Pathogenic
2	176094672	A	G	A176094672G	HOXD13	NM_000523.4(HOXD13):c.974A>G:p.Gln325Arg	coding	Pathogenic
2	176109004	A	G	A176109004G	HOXD11	NM_021192.3(HOXD11):c.879A>G:p.Lys293=	coding	Benign
2	176109079	G	A	G176109079A	HOXD11	NM_021192.3(HOXD11):c.954G>A:p.Arg318=	coding	Benign
2	176117205	T	G	T176117205G	HOXD10	NM_002148.3(HOXD10):c.372T>G:p.Ile124Met	coding	Benign
2	176117298	T	C	T176117298C	HOXD10	NM_002148.3(HOXD10):c.465T>C:p.Ser155=	coding	Benign
2	176117597	G	A	G176117597A	HOXD10	NM_002148.4(HOXD10):c.745+19G>A	noncoding	Benign
2	176118951	T	C	T176118951C	HOXD10	NM_002148.4(HOXD10):c.746-3T>C	noncoding	Benign
2	176118976	A	C	A176118976C	HOXD10	NM_002148.4(HOXD10):c.768A>C:p.Pro256=	coding	Benign
2	176119164	T	A	T176119164A	HOXD10	NM_002148.3(HOXD10):c.956T>A:p.Met319Lys	coding	Pathogenic
2	176119195	G	C	G176119195C	HOXD10	NM_002148.3(HOXD10):c.987G>C:p.Arg329=	coding	Benign
2	176119206	T	C	T176119206C	HOXD10	NM_002148.3(HOXD10):c.998T>C:p.Leu333Pro	coding	Benign
2	176119233	T	C	T176119233C	HOXD10	NM_002148.3(HOXD10):c.*2T>C	noncoding	Benign
2	176119278	G	T	G176119278T	HOXD10	NM_002148.3(HOXD10):c.*47G>T	noncoding	Benign
2	176119286	G	T	G176119286T	HOXD10	NM_002148.3(HOXD10):c.*55G>T	noncoding	Benign
2	176119510	G	A	G176119510A	HOXD10	NM_002148.3(HOXD10):c.*279G>A	noncoding	Benign
2	176119726	A	T	A176119726T	HOXD10	NM_002148.3(HOXD10):c.*495A>T	noncoding	Benign
2	176119816	C	T	C176119816T	HOXD10	NM_002148.3(HOXD10):c.*585C>T	noncoding	Benign
2	176119874	C	T	C176119874T	HOXD10	NM_002148.4(HOXD10):c.*643C>T	noncoding	Benign
2	176122788	G	C	G176122788C	HOXD9	NM_014213.4(HOXD9):c.20G>C:p.Gly7Ala	coding	Benign
2	176124037	C	T	C176124037T	HOXD9	NM_014213.4(HOXD9):c.921C>T:p.Asn307=	coding	Benign
2	176151768	C	T	C176151768T	HOXD4	NM_014621.3(HOXD4):c.135C>T:p.Asp45=	coding	Benign
2	176152072	G	T	G176152072T	HOXD4	NM_014621.3(HOXD4):c.433+6G>T	noncoding	Benign
2	176169267	A	C	A176169267C	HOXD3	NM_006898.5(HOXD3):c.153A>C:p.Pro51=	coding	Benign
2	176269631	T	A	T176269631A	MTX2	NM_006554.5(MTX2):c.2T>A:p.Met1Lys	coding	Pathogenic
2	176330583	G	C	G176330583C	MTX2	NM_006554.5(MTX2):c.544-1G>C	noncoding	Pathogenic
2	177231257	C	T	C177231257T	NFE2L2	NM_006164.5(NFE2L2):c.1346G>A:p.Arg449His	coding	Benign
2	177232457	A	C	A177232457C	NFE2L2	NM_006164.5(NFE2L2):c.529T>G:p.Leu177Val	coding	Benign
2	177234076	C	T	C177234076T	NFE2L2	NM_006164.5(NFE2L2):c.241G>A:p.Gly81Ser	coding	Pathogenic
2	177234078	G	T	G177234078T	NFE2L2	NM_006164.5(NFE2L2):c.239C>A:p.Thr80Lys	coding	Pathogenic
2	177234082	C	T	C177234082T	NFE2L2	NM_006164.5(NFE2L2):c.235G>A:p.Glu79Lys	coding	Pathogenic/Likely_pathogenic
2	177234189	C	T	C177234189T	NFE2L2	NM_006164.5(NFE2L2):c.128G>A:p.Arg43Gln	coding	Benign
2	177234226	C	T	C177234226T	NFE2L2	NM_006164.5(NFE2L2):c.91G>A:p.Gly31Arg	coding	Pathogenic/Likely_pathogenic
2	177392486	G	A	G177392486A	AGPS	NC_000002.12:g.177392486G>A	noncoding	Benign
2	177392663	G	A	G177392663A	AGPS	NC_000002.12:g.177392663G>A	noncoding	Benign
2	177392824	G	A	G177392824A	AGPS	NM_003659.4(AGPS):c.35G>A:p.Gly12Asp	coding	Benign/Likely_benign
2	177392936	C	T	C177392936T	AGPS	NM_003659.4(AGPS):c.147C>T:p.Pro49=	coding	Benign/Likely_benign
2	177392946	C	T	C177392946T	AGPS	NM_003659.4(AGPS):c.157C>T:p.Leu53=	coding	Benign/Likely_benign
2	177392975	A	G	A177392975G	AGPS	NM_003659.4(AGPS):c.186A>G:p.Arg62=	coding	Benign
2	177392996	A	G	A177392996G	AGPS	NM_003659.4(AGPS):c.207A>G:p.Ala69=	coding	Benign
2	177420264	A	C	A177420264C	AGPS	NM_003659.4(AGPS):c.261-5A>C	noncoding	Benign
2	177434133	G	A	G177434133A	AGPS	NM_003659.4(AGPS):c.351-194G>A	noncoding	Benign
2	177436866	C	T	C177436866T	AGPS	NM_003659.4(AGPS):c.544C>T:p.Arg182Ter	coding	Pathogenic
2	177437329	A	G	A177437329G	AGPS	NM_003659.4(AGPS):c.637+275A>G	noncoding	Benign
2	177440709	A	G	A177440709G	AGPS	NM_003659.4(AGPS):c.638-256A>G	noncoding	Benign
2	177461948	C	T	C177461948T	AGPS	NM_003659.4(AGPS):c.926C>T:p.Thr309Ile	coding	Pathogenic
2	177481846	T	G	T177481846G	AGPS	NM_003659.4(AGPS):c.1106-213T>G	noncoding	Benign
2	177482105	C	A	C177482105A	AGPS	NM_003659.4(AGPS):c.1152C>A:p.Val384=	coding	Benign/Likely_benign
2	177482126	C	G	C177482126G	AGPS	NM_003659.4(AGPS):c.1173C>G:p.Gly391=	coding	Benign
2	177492917	G	C	G177492917C	AGPS	NM_003659.4(AGPS):c.1234-231G>C	noncoding	Benign
2	177493170	G	A	G177493170A	AGPS	NM_003659.4(AGPS):c.1256G>A:p.Arg419His	coding	Pathogenic
2	177493344	C	T	C177493344T	AGPS	NM_003659.4(AGPS):c.1285+145C>T	noncoding	Benign
2	177493505	G	T	G177493505T	AGPS	NM_003659.4(AGPS):c.1285+306G>T	noncoding	Benign
2	177499661	T	C	T177499661C	AGPS	NM_003659.4(AGPS):c.1406T>C:p.Leu469Pro	coding	Pathogenic
2	177505312	T	C	T177505312C	AGPS	NM_003659.4(AGPS):c.1476-194T>C	noncoding	Benign
2	177521255	T	C	T177521255C	AGPS	NM_003659.4(AGPS):c.1698-14T>C	noncoding	Benign/Likely_benign
2	177521274	C	T	C177521274T	AGPS	NM_003659.4(AGPS):c.1703C>T:p.Thr568Met	coding	Pathogenic
2	177521275	G	A	G177521275A	AGPS	NM_003659.4(AGPS):c.1704G>A:p.Thr568=	coding	Benign
2	177523436	T	G	T177523436G	AGPS	NM_003659.4(AGPS):c.1798-312T>G	noncoding	Benign
2	177538058	G	T	G177538058T	AGPS	NM_003659.4(AGPS):c.1856-16G>T	noncoding	Benign
2	177538572	C	G	C177538572G	AGPS	NM_003659.4(AGPS):c.*377C>G	noncoding	Benign
2	177538572	C	T	C177538572T	AGPS	NM_003659.4(AGPS):c.*377C>T	noncoding	Benign
2	177538747	T	G	T177538747G	AGPS	NM_003659.4(AGPS):c.*552T>G	noncoding	Benign
2	177539060	A	G	A177539060G	AGPS	NM_003659.4(AGPS):c.*865A>G	noncoding	Benign
2	177539301	A	T	A177539301T	AGPS	NM_003659.4(AGPS):c.*1106A>T	noncoding	Benign
2	177539559	A	G	A177539559G	AGPS	NM_003659.4(AGPS):c.*1364A>G	noncoding	Benign
2	177539914	G	A	G177539914A	AGPS	NM_003659.4(AGPS):c.*1719G>A	noncoding	Benign
2	177540061	A	G	A177540061G	AGPS	NM_003659.4(AGPS):c.*1866A>G	noncoding	Benign
2	177540286	T	C	T177540286C	AGPS	NM_003659.4(AGPS):c.*2091T>C	noncoding	Benign
2	177540743	A	G	A177540743G	AGPS	NM_003659.4(AGPS):c.*2548A>G	noncoding	Benign
2	177540831	G	C	G177540831C	AGPS	NM_003659.4(AGPS):c.*2636G>C	noncoding	Benign
2	177541240	C	T	C177541240T	AGPS	NM_003659.4(AGPS):c.*3045C>T	noncoding	Benign
2	177541753	C	T	C177541753T	AGPS	NM_003659.4(AGPS):c.*3558C>T	noncoding	Benign
2	177542089	A	G	A177542089G	AGPS	NM_003659.4(AGPS):c.*3894A>G	noncoding	Benign
2	177542293	C	T	C177542293T	AGPS	NM_003659.4(AGPS):c.*4098C>T	noncoding	Benign
2	177542448	C	A	C177542448A	AGPS	NM_003659.4(AGPS):c.*4253C>A	noncoding	Benign
2	177542813	A	G	A177542813G	AGPS	NM_003659.4(AGPS):c.*4618A>G	noncoding	Benign
2	177543016	C	T	C177543016T	AGPS	NM_003659.4(AGPS):c.*4821C>T	noncoding	Benign
2	177543169	T	C	T177543169C	AGPS	NM_003659.4(AGPS):c.*4974T>C	noncoding	Benign
2	177663872	C	A	C177663872A	PDE11A	NM_016953.4(PDE11A):c.2640G>T:p.Leu880Phe	coding	Benign
2	177663880	T	C	T177663880C	PDE11A	NM_016953.4(PDE11A):c.2632A>G:p.Met878Val	coding	Benign/Likely_benign
2	177680861	G	A	G177680861A	PDE11A	NM_016953.4(PDE11A):c.2388C>T:p.Tyr796=	coding	Benign
2	177697343	C	T	C177697343T	PDE11A	NM_016953.4(PDE11A):c.2334G>A:p.Thr778=	coding	Benign
2	177711777	G	A	G177711777A	PDE11A	NM_016953.4(PDE11A):c.2145C>T:p.Phe715=	coding	Benign
2	177727651	C	T	C177727651T	PDE11A	NM_016953.4(PDE11A):c.2043+7G>A	noncoding	Benign
2	177727724	C	A	C177727724A	PDE11A	NM_016953.4(PDE11A):c.1977G>T:p.Arg659=	coding	Benign
2	177728107	G	A	G177728107A	PDE11A	NM_016953.4(PDE11A):c.1854C>T:p.Leu618=	coding	Benign
2	177769368	T	C	T177769368C	PDE11A	NM_016953.4(PDE11A):c.1743A>G:p.Leu581=	coding	Benign
2	177817929	T	C	T177817929C	PDE11A	NM_016953.4(PDE11A):c.1577-4A>G	noncoding	Benign
2	177840266	C	T	C177840266T	PDE11A	NM_016953.4(PDE11A):c.1485G>A:p.Pro495=	coding	Benign
2	178071639	G	A	G178071639A	PDE11A	NM_016953.4(PDE11A):c.799C>T:p.Leu267=	coding	Benign
2	178071781	G	A	G178071781A	PDE11A	NM_016953.4(PDE11A):c.657C>T:p.Thr219=	coding	Benign
2	178071834	G	A	G178071834A	PDE11A	NM_016953.4(PDE11A):c.604C>T:p.Arg202Cys	coding	Benign
2	178072291	T	C	T178072291C	PDE11A	NM_016953.4(PDE11A):c.147A>G:p.Leu49=	coding	Benign
2	178123571	A	G	A178123571G	RBM45	NM_152945.4(RBM45):c.903A>G:p.Lys301=	coding	Benign
2	178123592	G	A	G178123592A	RBM45	NM_152945.4(RBM45):c.924G>A:p.Gln308=	coding	Benign
2	178431897	C	T	C178431897T	PRKRA	NM_003690.5(PRKRA):c.*200G>A	noncoding	Benign
2	178431899	G	A	G178431899A	PRKRA	NM_003690.5(PRKRA):c.*198C>T	noncoding	Benign
2	178431938	A	G	A178431938G	PRKRA	NM_003690.5(PRKRA):c.*159T>C	noncoding	Benign
2	178432094	G	A	G178432094A	PRKRA	NM_003690.5(PRKRA):c.*3C>T	noncoding	Benign
2	178432244	G	A	G178432244A	PRKRA	NM_003690.5(PRKRA):c.795C>T:p.Ser265=	coding	Benign
2	178436244	G	A	G178436244A	PRKRA	NM_003690.5(PRKRA):c.685C>T:p.Leu229=	coding	Benign
2	178436252	A	T	A178436252T	PRKRA	NM_003690.5(PRKRA):c.677T>A:p.Ile226Asn	coding	Benign
2	178436264	G	A	G178436264A	PRKRA	NM_003690.5(PRKRA):c.665C>T:p.Pro222Leu	coding	Pathogenic
2	178441670	A	G	A178441670G	PRKRA	NM_003690.5(PRKRA):c.549T>C:p.Asn183=	coding	Benign
2	178443387	A	G	A178443387G	PRKRA	NM_003690.5(PRKRA):c.397-3T>C	noncoding	Benign
2	178444438	G	A	G178444438A	PRKRA	NM_003690.5(PRKRA):c.380C>T:p.Pro127Leu	coding	Benign
2	178450304	T	C	T178450304C	PRKRA	NM_003690.5(PRKRA):c.173A>G:p.Asp58Gly	coding	Benign/Likely_benign
2	178450999	G	A	G178450999A	PRKRA;PJVK	NM_003690.5(PRKRA):c.32C>T:p.Pro11Leu	coding	Benign/Likely_benign
2	178451030	T	G	T178451030G	PRKRA;PJVK	NM_003690.5(PRKRA):c.1A>C:p.Met1Leu	coding	Benign/Likely_benign
2	178451054	C	T	C178451054T	PRKRA;PJVK	NM_003690.5(PRKRA):c.-24G>A	noncoding	Benign/Likely_benign
2	178453567	C	G	C178453567G	PJVK	NM_001042702.4(PJVK):c.158C>G:p.Ser53Ter	coding	Pathogenic
2	178453570	C	T	C178453570T	PJVK	NM_001042702.5(PJVK):c.161C>T:p.Thr54Ile	coding	Pathogenic
2	178454526	C	T	C178454526T	PJVK	NM_001042702.4(PJVK):c.406C>T:p.Arg136Ter	coding	Pathogenic
2	178456101	C	T	C178456101T	PJVK	NM_001042702.5(PJVK):c.499C>T:p.Arg167Ter	coding	Pathogenic
2	178456149	C	T	C178456149T	PJVK	NM_001042702.5(PJVK):c.547C>T:p.Arg183Trp	coding	Pathogenic
2	178461089	G	A	G178461089A	PJVK	NM_001042702.5(PJVK):c.874G>A:p.Gly292Arg	coding	Benign/Likely_benign
2	178526348	C	A	C178526348A	TTN	NM_001267550.2(TTN):c.*664G>T	noncoding	Benign/Likely_benign
2	178526882	C	G	C178526882G	TTN	NM_001267550.2(TTN):c.*130G>C	noncoding	Benign/Likely_benign
2	178527098	G	A	G178527098A	TTN	NM_001267550.2(TTN):c.107890C>T:p.Gln35964Ter	coding	Pathogenic
2	178527121	A	G	A178527121G	TTN	NM_001267550.2(TTN):c.107867T>C:p.Leu35956Pro	coding	Pathogenic
2	178527148	A	T	A178527148T	TTN	NM_001267550.2(TTN):c.107840T>A:p.Ile35947Asn	coding	Pathogenic
2	178527151	T	G	T178527151G	TTN	NM_001267550.2(TTN):c.107837A>C:p.His35946Pro	coding	Pathogenic
2	178527288	T	C	T178527288C	TTN	NM_001267550.2(TTN):c.107700A>G:p.Glu35900=	coding	Benign/Likely_benign
2	178527300	C	T	C178527300T	TTN	NM_001267550.2(TTN):c.107688G>A:p.Pro35896=	coding	Benign/Likely_benign
2	178527353	A	T	A178527353T	TTN	NM_001267550.2(TTN):c.107681-46T>A	noncoding	Benign
2	178527548	G	A	G178527548A	TTN	NM_001267550.2(TTN):c.107578C>T:p.Gln35860Ter	coding	Pathogenic/Likely_pathogenic
2	178528058	G	A	G178528058A	TTN	NM_001267550.2(TTN):c.107377+216C>T	noncoding	Benign
2	178528273	C	G	C178528273G	TTN	NM_001267550.2(TTN):c.107377+1G>C	noncoding	Pathogenic
2	178528273	C	T	C178528273T	TTN	NM_001267550.2(TTN):c.107377+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	178528300	G	C	G178528300C	TTN	NM_001267550.2(TTN):c.107351C>G:p.Ser35784Ter	coding	Pathogenic
2	178528384	A	G	A178528384G	TTN	NM_001267550.2(TTN):c.107267T>C:p.Val35756Ala	coding	Benign/Likely_benign
2	178528797	G	A	G178528797A	TTN	NM_001267550.2(TTN):c.106954C>T:p.Arg35652Ter	coding	Pathogenic
2	178528894	G	A	G178528894A	TTN	NM_001267550.2(TTN):c.106857C>T:p.Asn35619=	coding	Benign
2	178528963	T	A	T178528963A	TTN	NM_001267550.2(TTN):c.106788A>T:p.Thr35596=	coding	Benign/Likely_benign
2	178529113	C	T	C178529113T	TTN	NM_001267550.2(TTN):c.106638G>A:p.Arg35546=	coding	Benign/Likely_benign
2	178529132	A	G	A178529132G	TTN	NM_001267550.2(TTN):c.106619T>C:p.Ile35540Thr	coding	Benign/Likely_benign
2	178529959	C	T	C178529959T	TTN	NM_001267550.2(TTN):c.106531+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	178530015	A	G	A178530015G	TTN	NM_001267550.2(TTN):c.106476T>C:p.Cys35492=	coding	Benign/Likely_benign
2	178530118	T	C	T178530118C	TTN	NM_001267550.2(TTN):c.106375-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	178530340	C	G	C178530340G	TTN	NM_001267550.2(TTN):c.106275G>C:p.Gly35425=	coding	Benign/Likely_benign
2	178530827	G	A	G178530827A	TTN	NM_001267550.2(TTN):c.105788C>T:p.Ala35263Val	coding	Benign/Likely_benign
2	178530828	C	A	C178530828A	TTN	NM_001267550.2(TTN):c.105787G>T:p.Ala35263Ser	coding	Benign/Likely_benign
2	178530833	G	A	G178530833A	TTN	NM_001267550.2(TTN):c.105782C>T:p.Pro35261Leu	coding	Benign/Likely_benign
2	178530834	G	A	G178530834A	TTN	NM_001267550.2(TTN):c.105781C>T:p.Pro35261Ser	coding	Benign
2	178530846	C	T	C178530846T	TTN	NM_001267550.2(TTN):c.105769G>A:p.Glu35257Lys	coding	Benign/Likely_benign
2	178530861	G	A	G178530861A	TTN	NM_001267550.2(TTN):c.105754C>T:p.Arg35252Ter	coding	Pathogenic/Likely_pathogenic
2	178531033	G	A	G178531033A	TTN	NM_001267550.2(TTN):c.105582C>T:p.Ser35194=	coding	Benign
2	178531086	C	T	C178531086T	TTN	NM_001267550.2(TTN):c.105529G>A:p.Val35177Met	coding	Benign/Likely_benign
2	178531147	C	T	C178531147T	TTN	NM_001267550.2(TTN):c.105468G>A:p.Pro35156=	coding	Benign/Likely_benign
2	178531192	G	C	G178531192C	TTN	NM_001267550.2(TTN):c.105423C>G:p.Tyr35141Ter	coding	Pathogenic/Likely_pathogenic
2	178531231	T	C	T178531231C	TTN	NM_001267550.2(TTN):c.105384A>G:p.Ala35128=	coding	Benign
2	178531435	C	G	C178531435G	TTN	NM_001267550.2(TTN):c.105180G>C:p.Glu35060Asp	coding	Benign/Likely_benign
2	178531530	A	G	A178531530G	TTN	NM_001267550.2(TTN):c.105085T>C:p.Leu35029=	coding	Benign
2	178531627	G	A	G178531627A	TTN	NM_001267550.2(TTN):c.104988C>T:p.Val34996=	coding	Benign
2	178531924	C	T	C178531924T	TTN	NM_001267550.2(TTN):c.104691G>A:p.Ser34897=	coding	Benign/Likely_benign
2	178532023	C	T	C178532023T	TTN	NM_001267550.2(TTN):c.104592G>A:p.Pro34864=	coding	Benign/Likely_benign
2	178532039	C	T	C178532039T	TTN	NM_001267550.2(TTN):c.104576G>A:p.Arg34859Gln	coding	Benign/Likely_benign
2	178532202	G	A	G178532202A	TTN	NM_001267550.2(TTN):c.104413C>T:p.Arg34805Ter	coding	Pathogenic/Likely_pathogenic
2	178532238	T	G	T178532238G	TTN	NM_001267550.2(TTN):c.104377A>C:p.Met34793Leu	coding	Benign/Likely_benign
2	178532268	G	A	G178532268A	TTN	NM_001267550.2(TTN):c.104347C>T:p.Leu34783Phe	coding	Benign
2	178532410	C	T	C178532410T	TTN	NM_001267550.2(TTN):c.104205G>A:p.Thr34735=	coding	Benign
2	178532834	C	T	C178532834T	TTN	NM_001267550.2(TTN):c.103781G>A:p.Arg34594His	coding	Benign/Likely_benign
2	178533091	G	A	G178533091A	TTN	NM_001267550.2(TTN):c.103524C>T:p.Val34508=	coding	Benign/Likely_benign
2	178533250	G	A	G178533250A	TTN	NM_001267550.2(TTN):c.103365C>T:p.Arg34455=	coding	Benign/Likely_benign
2	178533782	C	A	C178533782A	TTN	NM_001267550.2(TTN):c.102833G>T:p.Gly34278Val	coding	Benign/Likely_benign
2	178533783	C	A	C178533783A	TTN	NM_001267550.2(TTN):c.102832G>T:p.Gly34278Ter	coding	Benign
2	178534092	G	A	G178534092A	TTN	NM_001267550.2(TTN):c.102523C>T:p.Arg34175Ter	coding	Pathogenic/Likely_pathogenic
2	178534096	G	A	G178534096A	TTN	NM_001267550.2(TTN):c.102519C>T:p.Gly34173=	coding	Benign
2	178534812	T	C	T178534812C	TTN	NM_001267550.2(TTN):c.101803A>G:p.Ile33935Val	coding	Benign/Likely_benign
2	178534918	G	A	G178534918A	TTN	NM_001267550.2(TTN):c.101697C>T:p.Asp33899=	coding	Benign/Likely_benign
2	178535209	G	C	G178535209C	TTN	NM_001267550.2(TTN):c.101406C>G:p.Val33802=	coding	Benign/Likely_benign
2	178535404	G	A	G178535404A	TTN	NM_001267550.2(TTN):c.101211C>T:p.Leu33737=	coding	Benign
2	178535551	A	G	A178535551G	TTN	NM_001267550.2(TTN):c.101064T>C:p.Asp33688=	coding	Benign
2	178535790	G	A	G178535790A	TTN	NM_001267550.2(TTN):c.100825C>T:p.Arg33609Ter	coding	Pathogenic/Likely_pathogenic
2	178535858	G	A	G178535858A	TTN	NM_001267550.2(TTN):c.100766-9C>T	noncoding	Benign/Likely_benign
2	178535859	A	G	A178535859G	TTN	NM_133378.4(TTN):c.93062-10T>C	noncoding	Benign
2	178536168	C	T	C178536168T	TTN	NM_001267550.2(TTN):c.100579G>A:p.Val33527Ile	coding	Benign/Likely_benign
2	178536288	G	A	G178536288A	TTN	NM_001267550.2(TTN):c.100459C>T:p.Pro33487Ser	coding	Benign/Likely_benign
2	178536793	A	T	A178536793T	TTN	NM_001267550.2(TTN):c.100171+145T>A	noncoding	Benign
2	178537013	C	T	C178537013T	TTN	NM_001267550.2(TTN):c.100096G>A:p.Val33366Ile	coding	Benign/Likely_benign
2	178537014	C	T	C178537014T	TTN	NM_001267550.2(TTN):c.100095G>A:p.Arg33365=	coding	Benign
2	178537015	C	T	C178537015T	TTN	NM_001267550.2(TTN):c.100094G>A:p.Arg33365Gln	coding	Benign/Likely_benign
2	178537050	A	T	A178537050T	TTN	NM_001267550.2(TTN):c.100059T>A:p.Ile33353=	coding	Benign/Likely_benign
2	178537140	G	A	G178537140A	TTN	NM_001267550.2(TTN):c.99969C>T:p.Ile33323=	coding	Benign/Likely_benign
2	178537253	G	A	G178537253A	TTN	NM_001267550.2(TTN):c.99866-10C>T	noncoding	Benign/Likely_benign
2	178537397	G	A	G178537397A	TTN	NM_001267550.2(TTN):c.99810C>T:p.Val33270=	coding	Benign/Likely_benign
2	178537495	G	A	G178537495A	TTN	NM_001267550.2(TTN):c.99712C>T:p.Gln33238Ter	coding	Pathogenic
2	178537862	A	C	A178537862C	TTN	NM_001267550.2(TTN):c.99345T>G:p.Gly33115=	coding	Benign/Likely_benign
2	178538718	A	G	A178538718G	TTN	NM_001267550.2(TTN):c.99111T>C:p.Tyr33037=	coding	Benign/Likely_benign
2	178538945	C	T	C178538945T	TTN	NM_001267550.2(TTN):c.98989+1G>A	coding	Pathogenic/Likely_pathogenic
2	178539023	C	T	C178539023T	TTN	NM_001267550.2(TTN):c.98912G>A:p.Arg32971His	coding	Benign
2	178539214	G	T	G178539214T	TTN	NM_001267550.2(TTN):c.98721C>A:p.Leu32907=	coding	Benign/Likely_benign
2	178539470	T	C	T178539470C	TTN	NM_001267550.2(TTN):c.98595A>G:p.Glu32865=	coding	Benign/Likely_benign
2	178539566	G	A	G178539566A	TTN	NM_001267550.2(TTN):c.98499C>T:p.Leu32833=	coding	Benign/Likely_benign
2	178539626	C	T	C178539626T	TTN	NM_001267550.2(TTN):c.98439G>A:p.Val32813=	coding	Benign
2	178539676	T	C	T178539676C	TTN	NM_001267550.2(TTN):c.98389A>G:p.Asn32797Asp	coding	Benign
2	178539698	C	T	C178539698T	TTN	NM_001267550.2(TTN):c.98367G>A:p.Lys32789=	coding	Benign/Likely_benign
2	178539901	T	A	T178539901A	TTN	NM_001267550.2(TTN):c.98164A>T:p.Ile32722Phe	coding	Benign/Likely_benign
2	178540057	A	T	A178540057T	TTN	NM_001267550.2(TTN):c.98098+11T>A	noncoding	Benign
2	178540059	A	T	A178540059T	TTN	NM_001267550.2(TTN):c.98098+9T>A	noncoding	Benign
2	178541080	A	G	A178541080G	TTN	NM_001267550.2(TTN):c.97795+202T>C	noncoding	Benign
2	178541276	C	A	C178541276A	TTN	NM_001267550.2(TTN):c.97795+6G>T	noncoding	Benign
2	178541464	C	T	C178541464T	TTN	NM_001267550.2(TTN):c.97613G>A:p.Arg32538His	coding	Benign/Likely_benign
2	178541499	G	A	G178541499A	TTN	NM_001267550.2(TTN):c.97578C>T:p.Asp32526=	coding	Benign
2	178541517	C	T	C178541517T	TTN	NM_001267550.2(TTN):c.97560G>A:p.Trp32520Ter	coding	Pathogenic
2	178542001	A	G	A178542001G	TTN	NM_001267550.2(TTN):c.97492+263T>C	noncoding	Benign
2	178542263	C	G	C178542263G	TTN	NM_001267550.2(TTN):c.97492+1G>C	coding	Pathogenic/Likely_pathogenic
2	178542292	A	G	A178542292G	TTN	NM_001267550.2(TTN):c.97464T>C:p.Ser32488=	coding	Benign/Likely_benign
2	178542579	A	C	A178542579C	TTN	NM_001267550.2(TTN):c.97193-16T>G	noncoding	Benign
2	178542894	A	G	A178542894G	TTN	NM_001267550.2(TTN):c.96960T>C:p.Ala32320=	coding	Benign/Likely_benign
2	178542910	G	A	G178542910A	TTN	NM_001267550.2(TTN):c.96944C>T:p.Thr32315Ile	coding	Benign/Likely_benign
2	178543061	G	A	G178543061A	TTN	NM_001267550.2(TTN):c.96904+8C>T	noncoding	Benign/Likely_benign
2	178543276	G	A	G178543276A	TTN	NM_001267550.2(TTN):c.96697C>T:p.Arg32233Ter	coding	Pathogenic
2	178543832	A	C	A178543832C	TTN	NM_001267550.2(TTN):c.96310+2T>G	noncoding	Pathogenic
2	178543964	A	G	A178543964G	TTN	NM_001267550.2(TTN):c.96180T>C:p.Ile32060=	coding	Benign/Likely_benign
2	178543986	A	G	A178543986G	TTN	NM_001267550.2(TTN):c.96158T>C:p.Ile32053Thr	coding	Benign
2	178544036	C	T	C178544036T	TTN	NM_001267550.2(TTN):c.96108G>A:p.Val32036=	coding	Benign
2	178544648	A	G	A178544648G	TTN	NM_001267550.2(TTN):c.95723-142T>C	noncoding	Benign
2	178545555	A	G	A178545555G	TTN	NM_001267550.2(TTN):c.95555T>C:p.Leu31852Pro	coding	Benign/Likely_benign
2	178545557	G	A	G178545557A	TTN	NM_001267550.2(TTN):c.95553C>T:p.Ser31851=	coding	Benign/Likely_benign
2	178545830	T	C	T178545830C	TTN	NM_001267550.2(TTN):c.95406A>G:p.Arg31802=	coding	Benign/Likely_benign
2	178545878	G	C	G178545878C	TTN	NM_001267550.2(TTN):c.95358C>G:p.Asn31786Lys	coding	Pathogenic
2	178545977	G	A	G178545977A	TTN	NM_001267550.2(TTN):c.95259C>T:p.Leu31753=	coding	Benign/Likely_benign
2	178546031	G	A	G178546031A	TTN	NM_001267550.2(TTN):c.95205C>T:p.Asp31735=	coding	Benign/Likely_benign
2	178546041	G	A	G178546041A	TTN	NM_001267550.2(TTN):c.95195C>T:p.Pro31732Leu	coding	Pathogenic/Likely_pathogenic
2	178546050	C	A	C178546050A	TTN	NM_001267550.2(TTN):c.95186G>T:p.Trp31729Leu	coding	Pathogenic
2	178546051	A	G	A178546051G	TTN	NM_001267550.2(TTN):c.95185T>C:p.Trp31729Arg	coding	Pathogenic
2	178546088	G	A	G178546088A	TTN	NM_001267550.2(TTN):c.95148C>T:p.Thr31716=	coding	Benign/Likely_benign
2	178546102	A	G	A178546102G	TTN	NM_001267550.2(TTN):c.95134T>C:p.Cys31712Arg	coding	Pathogenic
2	178546284	T	C	T178546284C	TTN	NM_001267550.2(TTN):c.95047A>G:p.Ser31683Gly	coding	Benign/Likely_benign
2	178546296	C	T	C178546296T	TTN	NM_001267550.2(TTN):c.95035G>A:p.Asp31679Asn	coding	Benign/Likely_benign
2	178546323	G	A	G178546323A	TTN	NM_001267550.2(TTN):c.95008C>T:p.Arg31670Ter	coding	Pathogenic
2	178546938	A	G	A178546938G	TTN	NM_001267550.2(TTN):c.94523-33T>C	noncoding	Benign
2	178547061	A	G	A178547061G	TTN	NM_001267550.2(TTN):c.94464T>C:p.Ala31488=	coding	Benign/Likely_benign
2	178547234	C	A	C178547234A	TTN	NM_001267550.2(TTN):c.94291G>T:p.Glu31431Ter	coding	Pathogenic
2	178547464	T	A	T178547464A	TTN	NM_001267550.2(TTN):c.94162A>T:p.Arg31388Ter	coding	Pathogenic
2	178547580	C	T	C178547580T	TTN	NM_001267550.2(TTN):c.94046G>A:p.Arg31349His	coding	Benign/Likely_benign
2	178547725	C	T	C178547725T	TTN	NM_001267550.2(TTN):c.93901G>A:p.Val31301Ile	coding	Benign/Likely_benign
2	178547758	G	A	G178547758A	TTN	NM_001267550.2(TTN):c.93868C>T:p.Leu31290=	coding	Benign/Likely_benign
2	178548182	G	A	G178548182A	TTN	NM_001267550.2(TTN):c.93444C>T:p.Tyr31148=	coding	Benign/Likely_benign
2	178548239	G	A	G178548239A	TTN	NM_001267550.2(TTN):c.93387C>T:p.Ser31129=	coding	Benign/Likely_benign
2	178548383	G	A	G178548383A	TTN	NM_001267550.2(TTN):c.93243C>T:p.Ala31081=	coding	Benign
2	178548460	G	A	G178548460A	TTN	NM_001267550.2(TTN):c.93166C>T:p.Arg31056Ter	coding	Pathogenic/Likely_pathogenic
2	178548725	G	A	G178548725A	TTN	NM_001267550.2(TTN):c.92901C>T:p.Ser30967=	coding	Benign/Likely_benign
2	178548911	G	A	G178548911A	TTN	NM_001267550.2(TTN):c.92715C>T:p.Gly30905=	coding	Benign
2	178549309	G	A	G178549309A	TTN	NM_001267550.2(TTN):c.92317C>T:p.Arg30773Ter	coding	Pathogenic/Likely_pathogenic
2	178549435	T	C	T178549435C	TTN	NM_001267550.2(TTN):c.92191A>G:p.Ile30731Val	coding	Benign/Likely_benign
2	178549559	C	T	C178549559T	TTN	NM_001267550.2(TTN):c.92152+11G>A	noncoding	Benign
2	178549591	C	T	C178549591T	TTN	NM_001267550.2(TTN):c.92131G>A:p.Val30711Met	coding	Benign/Likely_benign
2	178549785	T	C	T178549785C	TTN	NM_001267550.2(TTN):c.91937A>G:p.Asn30646Ser	coding	Benign/Likely_benign
2	178549786	T	C	T178549786C	TTN	NM_001267550.2(TTN):c.91936A>G:p.Asn30646Asp	coding	Benign
2	178549838	T	A	T178549838A	TTN	NM_001267550.2(TTN):c.91884A>T:p.Arg30628Ser	coding	Benign/Likely_benign
2	178549906	C	A	C178549906A	TTN	NM_001267550.2(TTN):c.91853-37G>T	noncoding	Benign
2	178549978	A	T	A178549978T	TTN	NM_001267550.2(TTN):c.91852+8T>A	noncoding	Benign/Likely_benign
2	178550265	T	C	T178550265C	TTN	NM_001267550.2(TTN):c.91573A>G:p.Ile30525Val	coding	Benign/Likely_benign
2	178550266	T	C	T178550266C	TTN	NM_001267550.2(TTN):c.91572A>G:p.Pro30524=	coding	Benign
2	178550286	G	A	G178550286A	TTN	NM_001267550.2(TTN):c.91565-13C>T	noncoding	Benign/Likely_benign
2	178551811	C	T	C178551811T	TTN	NM_001267550.2(TTN):c.91089G>A:p.Lys30363=	coding	Benign/Likely_benign
2	178551829	A	C	A178551829C	TTN	NM_001267550.2(TTN):c.91071T>G:p.Thr30357=	coding	Benign
2	178551866	C	T	C178551866T	TTN	NM_001267550.2(TTN):c.91034G>A:p.Trp30345Ter	coding	Pathogenic
2	178551932	C	T	C178551932T	TTN	NM_001267550.2(TTN):c.90968G>A:p.Arg30323Lys	coding	Benign/Likely_benign
2	178552194	C	A	C178552194A	TTN	NM_001267550.2(TTN):c.90706G>T:p.Glu30236Ter	coding	Pathogenic
2	178552203	G	A	G178552203A	TTN	NM_001267550.2(TTN):c.90697C>T:p.Arg30233Ter	coding	Pathogenic/Likely_pathogenic
2	178552906	C	T	C178552906T	TTN	NM_001267550.2(TTN):c.89994G>A:p.Ser29998=	coding	Benign/Likely_benign
2	178553328	G	A	G178553328A	TTN	NM_001267550.2(TTN):c.89572C>T:p.Gln29858Ter	coding	Pathogenic
2	178553688	T	A	T178553688A	TTN	NM_001267550.2(TTN):c.89317A>T:p.Ile29773Leu	coding	Benign/Likely_benign
2	178553725	A	T	A178553725T	TTN	NM_001267550.2(TTN):c.89280T>A:p.Tyr29760Ter	coding	Pathogenic
2	178554094	G	A	G178554094A	TTN	NM_001267550.2(TTN):c.89017C>T:p.Arg29673Ter	coding	Pathogenic/Likely_pathogenic
2	178554234	G	A	G178554234A	TTN	NM_001267550.2(TTN):c.88895-18C>T	noncoding	Benign
2	178554489	G	A	G178554489A	TTN	NM_001267550.2(TTN):c.88858C>T:p.Leu29620=	coding	Benign/Likely_benign
2	178554496	G	C	G178554496C	TTN	NM_001267550.2(TTN):c.88851C>G:p.Gly29617=	coding	Benign
2	178554510	T	A	T178554510A	TTN	NM_001267550.2(TTN):c.88837A>T:p.Lys29613Ter	coding	Pathogenic/Likely_pathogenic
2	178554522	G	A	G178554522A	TTN	NM_001267550.2(TTN):c.88825C>T:p.Arg29609Ter	coding	Pathogenic/Likely_pathogenic
2	178554949	C	T	C178554949T	TTN	NM_001267550.2(TTN):c.88510G>A:p.Asp29504Asn	coding	Benign/Likely_benign
2	178554983	G	C	G178554983C	TTN	NM_001267550.2(TTN):c.88476C>G:p.Thr29492=	coding	Benign/Likely_benign
2	178555052	C	T	C178555052T	TTN	NM_001267550.2(TTN):c.88407G>A:p.Ala29469=	coding	Benign/Likely_benign
2	178556567	C	T	C178556567T	TTN	NM_001267550.2(TTN):c.88306+281G>A	noncoding	Benign
2	178556857	C	T	C178556857T	TTN	NM_001267550.2(TTN):c.88297G>A:p.Asp29433Asn	coding	Benign/Likely_benign
2	178556882	C	T	C178556882T	TTN	NM_001267550.2(TTN):c.88272G>A:p.Glu29424=	coding	Benign
2	178556967	A	G	A178556967G	TTN	NM_001267550.2(TTN):c.88187T>C:p.Ile29396Thr	coding	Benign/Likely_benign
2	178557231	C	A	C178557231A	TTN	NM_001267550.2(TTN):c.88009+22G>T	noncoding	Benign
2	178557385	G	A	G178557385A	TTN	NM_001267550.2(TTN):c.87877C>T:p.Arg29293Cys	coding	Benign/Likely_benign
2	178557511	G	A	G178557511A	TTN	NM_001267550.2(TTN):c.87751C>T:p.Arg29251Ter	coding	Pathogenic
2	178557685	A	G	A178557685G	TTN	NM_001267550.2(TTN):c.87669T>C:p.His29223=	coding	Benign/Likely_benign
2	178557795	C	A	C178557795A	TTN	NM_001267550.2(TTN):c.87559G>T:p.Glu29187Ter	coding	Pathogenic
2	178558118	G	C	G178558118C	TTN	NM_001267550.2(TTN):c.87236C>G:p.Ser29079Ter	coding	Pathogenic
2	178558372	A	G	A178558372G	TTN	NM_001267550.2(TTN):c.87087T>C:p.Leu29029=	coding	Benign/Likely_benign
2	178558419	G	A	G178558419A	TTN	NM_001267550.2(TTN):c.87040C>T:p.Arg29014Ter	coding	Pathogenic
2	178558453	A	G	A178558453G	TTN	NM_001267550.2(TTN):c.87006T>C:p.Val29002=	coding	Benign
2	178559155	A	G	A178559155G	TTN	NM_001267550.2(TTN):c.86821+156T>C	noncoding	Benign
2	178559309	A	T	A178559309T	TTN	NM_001267550.2(TTN):c.86821+2T>A	noncoding	Pathogenic/Likely_pathogenic
2	178559321	T	C	T178559321C	TTN	NM_001267550.2(TTN):c.86811A>G:p.Val28937=	coding	Benign/Likely_benign
2	178559658	A	C	A178559658C	TTN	NM_001267550.2(TTN):c.86474T>G:p.Leu28825Ter	coding	Pathogenic/Likely_pathogenic
2	178559695	C	A	C178559695A	TTN	NM_001267550.2(TTN):c.86437G>T:p.Glu28813Ter	coding	Pathogenic/Likely_pathogenic
2	178559769	C	T	C178559769T	TTN	NM_001267550.2(TTN):c.86363G>A:p.Trp28788Ter	coding	Pathogenic
2	178559831	C	T	C178559831T	TTN	NM_001267550.2(TTN):c.86301G>A:p.Lys28767=	coding	Benign/Likely_benign
2	178560016	G	A	G178560016A	TTN	NM_001267550.2(TTN):c.86116C>T:p.Arg28706Ter	coding	Pathogenic/Likely_pathogenic
2	178560269	A	G	A178560269G	TTN	NM_001267550.2(TTN):c.85863T>C:p.Tyr28621=	coding	Benign/Likely_benign
2	178560314	A	T	A178560314T	TTN	NM_001267550.2(TTN):c.85818T>A:p.Tyr28606Ter	coding	Pathogenic
2	178560364	G	A	G178560364A	TTN	NM_001267550.2(TTN):c.85768C>T:p.Arg28590Ter	coding	Pathogenic/Likely_pathogenic
2	178560441	T	A	T178560441A	TTN	NM_001267550.2(TTN):c.85691A>T:p.Lys28564Ile	coding	Benign/Likely_benign
2	178560588	A	C	A178560588C	TTN	NM_001267550.2(TTN):c.85544T>G:p.Leu28515Ter	coding	Pathogenic
2	178561042	G	A	G178561042A	TTN	NM_001267550.2(TTN):c.85090C>T:p.Arg28364Ter	coding	Pathogenic/Likely_pathogenic
2	178561235	C	T	C178561235T	TTN	NM_001267550.2(TTN):c.84897G>A:p.Trp28299Ter	coding	Pathogenic
2	178561313	C	T	C178561313T	TTN	NM_001267550.2(TTN):c.84819G>A:p.Trp28273Ter	coding	Pathogenic
2	178561671	G	A	G178561671A	TTN	NM_001267550.2(TTN):c.84461C>T:p.Pro28154Leu	coding	Benign/Likely_benign
2	178561679	T	C	T178561679C	TTN	NM_001267550.2(TTN):c.84453A>G:p.Pro28151=	coding	Benign/Likely_benign
2	178561780	G	A	G178561780A	TTN	NM_001267550.2(TTN):c.84352C>T:p.Arg28118Cys	coding	Benign/Likely_benign
2	178562091	G	C	G178562091C	TTN	NM_001267550.2(TTN):c.84041C>G:p.Ser28014Ter	coding	Pathogenic
2	178562459	A	G	A178562459G	TTN	NM_001267550.2(TTN):c.83673T>C:p.Gly27891=	coding	Benign
2	178562617	G	A	G178562617A	TTN	NM_001267550.2(TTN):c.83515C>T:p.Arg27839Ter	coding	Pathogenic/Likely_pathogenic
2	178562809	T	C	T178562809C	TTN	NM_001267550.2(TTN):c.83323A>G:p.Ile27775Val	coding	Benign/Likely_benign
2	178562860	A	G	A178562860G	TTN	NM_001267550.2(TTN):c.83272T>C:p.Phe27758Leu	coding	Benign
2	178563028	G	A	G178563028A	TTN	NM_001267550.2(TTN):c.83104C>T:p.Arg27702Ter	coding	Pathogenic
2	178563076	C	T	C178563076T	TTN	NM_001267550.2(TTN):c.83056G>A:p.Val27686Ile	coding	Benign/Likely_benign
2	178563334	C	T	C178563334T	TTN	NM_001267550.2(TTN):c.82798G>A:p.Ala27600Thr	coding	Benign/Likely_benign
2	178563335	G	A	G178563335A	TTN	NM_001267550.2(TTN):c.82797C>T:p.Gly27599=	coding	Benign/Likely_benign
2	178563392	C	T	C178563392T	TTN	NM_001267550.2(TTN):c.82740G>A:p.Thr27580=	coding	Benign/Likely_benign
2	178563440	C	T	C178563440T	TTN	NM_001267550.2(TTN):c.82692G>A:p.Ala27564=	coding	Benign/Likely_benign
2	178563475	C	A	C178563475A	TTN	NM_001267550.2(TTN):c.82657G>T:p.Gly27553Ter	coding	Pathogenic
2	178563493	C	A	C178563493A	TTN	NM_001267550.2(TTN):c.82639G>T:p.Glu27547Ter	coding	Pathogenic/Likely_pathogenic
2	178563557	C	T	C178563557T	TTN	NM_001267550.2(TTN):c.82575G>A:p.Thr27525=	coding	Benign/Likely_benign
2	178563635	G	A	G178563635A	TTN	NM_001267550.2(TTN):c.82497C>T:p.Thr27499=	coding	Benign/Likely_benign
2	178563747	G	T	G178563747T	TTN	NM_001267550.2(TTN):c.82385C>A:p.Thr27462Lys	coding	Benign/Likely_benign
2	178564051	G	C	G178564051C	TTN	NM_001267550.2(TTN):c.82081C>G:p.Pro27361Ala	coding	Benign/Likely_benign
2	178564096	G	A	G178564096A	TTN	NM_001267550.2(TTN):c.82036C>T:p.Gln27346Ter	coding	Pathogenic/Likely_pathogenic
2	178564168	T	A	T178564168A	TTN	NM_001267550.2(TTN):c.81964A>T:p.Arg27322Ter	coding	Pathogenic
2	178564174	C	T	C178564174T	TTN	NM_001267550.2(TTN):c.81958G>A:p.Ala27320Thr	coding	Benign/Likely_benign
2	178564277	G	A	G178564277A	TTN	NM_001267550.2(TTN):c.81855C>T:p.Ile27285=	coding	Benign/Likely_benign
2	178564408	C	A	C178564408A	TTN	NM_001267550.2(TTN):c.81724G>T:p.Glu27242Ter	coding	Pathogenic
2	178564795	C	A	C178564795A	TTN	NM_001267550.2(TTN):c.81337G>T:p.Glu27113Ter	coding	Pathogenic
2	178564811	G	C	G178564811C	TTN	NM_001267550.2(TTN):c.81321C>G:p.Tyr27107Ter	coding	Pathogenic/Likely_pathogenic
2	178565075	A	G	A178565075G	TTN	NM_001267550.2(TTN):c.81057T>C:p.Thr27019=	coding	Benign/Likely_benign
2	178565095	G	A	G178565095A	TTN	NM_001267550.2(TTN):c.81037C>T:p.Arg27013Ter	coding	Pathogenic/Likely_pathogenic
2	178565333	G	T	G178565333T	TTN	NM_001267550.2(TTN):c.80799C>A:p.Thr26933=	coding	Benign/Likely_benign
2	178565416	G	A	G178565416A	TTN	NM_001267550.2(TTN):c.80716C>T:p.Arg26906Ter	coding	Pathogenic
2	178565432	T	C	T178565432C	TTN	NM_001267550.2(TTN):c.80700A>G:p.Glu26900=	coding	Benign
2	178565471	G	A	G178565471A	TTN	NM_001267550.2(TTN):c.80661C>T:p.Asn26887=	coding	Benign/Likely_benign
2	178565497	G	T	G178565497T	TTN	NM_001267550.2(TTN):c.80635C>A:p.Gln26879Lys	coding	Benign/Likely_benign
2	178566191	T	C	T178566191C	TTN	NM_001267550.2(TTN):c.79941A>G:p.Gln26647=	coding	Benign/Likely_benign
2	178566270	G	A	G178566270A	TTN	NM_001267550.2(TTN):c.79862C>T:p.Thr26621Met	coding	Benign/Likely_benign
2	178566339	A	C	A178566339C	TTN	NM_001267550.2(TTN):c.79793T>G:p.Leu26598Ter	coding	Pathogenic/Likely_pathogenic
2	178566349	C	G	C178566349G	TTN	NM_001267550.2(TTN):c.79783G>C:p.Asp26595His	coding	Benign/Likely_benign
2	178566432	T	C	T178566432C	TTN	NM_001267550.2(TTN):c.79700A>G:p.Asn26567Ser	coding	Benign/Likely_benign
2	178566443	G	T	G178566443T	TTN	NM_001267550.2(TTN):c.79689C>A:p.Val26563=	coding	Benign/Likely_benign
2	178566520	T	C	T178566520C	TTN	NM_001267550.2(TTN):c.79612A>G:p.Thr26538Ala	coding	Benign/Likely_benign
2	178566529	G	A	G178566529A	TTN	NM_001267550.2(TTN):c.79603C>T:p.Gln26535Ter	coding	Pathogenic
2	178566814	G	A	G178566814A	TTN	NM_001267550.2(TTN):c.79318C>T:p.Arg26440Cys	coding	Benign/Likely_benign
2	178566815	G	A	G178566815A	TTN	NM_001267550.2(TTN):c.79317C>T:p.Arg26439=	coding	Benign
2	178566867	A	G	A178566867G	TTN	NM_001267550.2(TTN):c.79265T>C:p.Ile26422Thr	coding	Benign/Likely_benign
2	178567070	A	T	A178567070T	TTN	NM_001267550.2(TTN):c.79062T>A:p.Gly26354=	coding	Benign
2	178567141	G	A	G178567141A	TTN	NM_001267550.2(TTN):c.78991C>T:p.Arg26331Ter	coding	Pathogenic/Likely_pathogenic
2	178567141	G	T	G178567141T	TTN	NM_001267550.2(TTN):c.78991C>A:p.Arg26331=	coding	Benign/Likely_benign
2	178567190	A	G	A178567190G	TTN	NM_001267550.2(TTN):c.78942T>C:p.Asp26314=	coding	Benign/Likely_benign
2	178567458	A	G	A178567458G	TTN	NM_001267550.2(TTN):c.78674T>C:p.Ile26225Thr	coding	Benign/Likely_benign
2	178567728	C	T	C178567728T	TTN	NM_001267550.2(TTN):c.78404G>A:p.Trp26135Ter	coding	Pathogenic/Likely_pathogenic
2	178567954	C	A	C178567954A	TTN	NM_001267550.2(TTN):c.78178G>T:p.Glu26060Ter	coding	Pathogenic/Likely_pathogenic
2	178567985	T	C	T178567985C	TTN	NM_001267550.2(TTN):c.78147A>G:p.Gln26049=	coding	Benign/Likely_benign
2	178568494	T	C	T178568494C	TTN	NM_001267550.2(TTN):c.77638A>G:p.Thr25880Ala	coding	Benign/Likely_benign
2	178568695	G	A	G178568695A	TTN	NM_001267550.2(TTN):c.77437C>T:p.Gln25813Ter	coding	Pathogenic
2	178568853	T	C	T178568853C	TTN	NM_001267550.2(TTN):c.77279A>G:p.Asn25760Ser	coding	Benign/Likely_benign
2	178568854	T	C	T178568854C	TTN	NM_001267550.2(TTN):c.77278A>G:p.Asn25760Asp	coding	Benign
2	178569267	C	T	C178569267T	TTN	NM_001267550.2(TTN):c.76865G>A:p.Trp25622Ter	coding	Pathogenic/Likely_pathogenic
2	178569278	T	C	T178569278C	TTN	NM_001267550.2(TTN):c.76854A>G:p.Val25618=	coding	Benign/Likely_benign
2	178569329	C	T	C178569329T	TTN	NM_001267550.2(TTN):c.76803G>A:p.Thr25601=	coding	Benign
2	178569393	G	A	G178569393A	TTN	NM_001267550.2(TTN):c.76739C>T:p.Thr25580Met	coding	Benign/Likely_benign
2	178569412	A	G	A178569412G	TTN	NM_001267550.2(TTN):c.76720T>C:p.Tyr25574His	coding	Benign/Likely_benign
2	178569415	G	A	G178569415A	TTN	NM_001267550.2(TTN):c.76717C>T:p.Arg25573Ter	coding	Pathogenic/Likely_pathogenic
2	178569609	G	T	G178569609T	TTN	NM_001267550.2(TTN):c.76523C>A:p.Pro25508Gln	coding	Benign
2	178569789	C	T	C178569789T	TTN	NM_001267550.2(TTN):c.76343G>A:p.Ser25448Asn	coding	Benign/Likely_benign
2	178569854	C	T	C178569854T	TTN	NM_001267550.2(TTN):c.76278G>A:p.Trp25426Ter	coding	Pathogenic
2	178570610	T	G	T178570610G	TTN	NM_001267550.2(TTN):c.75522A>C:p.Ala25174=	coding	Benign
2	178570663	G	A	G178570663A	TTN	NM_001267550.2(TTN):c.75469C>T:p.Arg25157Ter	coding	Pathogenic/Likely_pathogenic
2	178570691	T	C	T178570691C	TTN	NM_001267550.2(TTN):c.75441A>G:p.Lys25147=	coding	Benign/Likely_benign
2	178570804	G	A	G178570804A	TTN	NM_001267550.2(TTN):c.75328C>T:p.Arg25110Ter	coding	Pathogenic/Likely_pathogenic
2	178570882	G	A	G178570882A	TTN	NM_001267550.2(TTN):c.75250C>T:p.Arg25084Ter	coding	Pathogenic/Likely_pathogenic
2	178571160	A	G	A178571160G	TTN	NM_001267550.2(TTN):c.74972T>C:p.Ile24991Thr	coding	Benign/Likely_benign
2	178571167	C	T	C178571167T	TTN	NM_001267550.2(TTN):c.74965G>A:p.Val24989Met	coding	Benign/Likely_benign
2	178571293	G	A	G178571293A	TTN	NM_001267550.2(TTN):c.74839C>T:p.Arg24947Cys	coding	Benign/Likely_benign
2	178571565	C	T	C178571565T	TTN	NM_001267550.2(TTN):c.74567G>A:p.Trp24856Ter	coding	Pathogenic
2	178571794	G	A	G178571794A	TTN	NM_001267550.2(TTN):c.74338C>T:p.Arg24780Ter	coding	Pathogenic/Likely_pathogenic
2	178571942	A	C	A178571942C	TTN	NM_001267550.2(TTN):c.74190T>G:p.Gly24730=	coding	Benign/Likely_benign
2	178572286	G	A	G178572286A	TTN	NM_001267550.2(TTN):c.73846C>T:p.Arg24616Ter	coding	Pathogenic/Likely_pathogenic
2	178572628	C	A	C178572628A	TTN	NM_001267550.2(TTN):c.73504G>T:p.Glu24502Ter	coding	Pathogenic
2	178572689	G	T	G178572689T	TTN	NM_001267550.2(TTN):c.73443C>A:p.Tyr24481Ter	coding	Pathogenic
2	178572796	G	A	G178572796A	TTN	NM_001267550.2(TTN):c.73336C>T:p.Leu24446=	coding	Benign/Likely_benign
2	178573226	A	T	A178573226T	TTN	NM_001267550.2(TTN):c.72906T>A:p.Ala24302=	coding	Benign/Likely_benign
2	178573508	T	C	T178573508C	TTN	NM_001267550.2(TTN):c.72624A>G:p.Pro24208=	coding	Benign/Likely_benign
2	178574019	G	A	G178574019A	TTN	NM_001267550.2(TTN):c.72113C>T:p.Thr24038Met	coding	Benign/Likely_benign
2	178574027	A	G	A178574027G	TTN	NM_001267550.2(TTN):c.72105T>C:p.Phe24035=	coding	Benign/Likely_benign
2	178574099	T	C	T178574099C	TTN	NM_001267550.2(TTN):c.72033A>G:p.Pro24011=	coding	Benign/Likely_benign
2	178574139	C	T	C178574139T	TTN	NM_001267550.2(TTN):c.71993G>A:p.Arg23998His	coding	Benign
2	178574192	C	T	C178574192T	TTN	NM_001267550.2(TTN):c.71940G>A:p.Leu23980=	coding	Benign/Likely_benign
2	178574530	G	A	G178574530A	TTN	NM_001267550.2(TTN):c.71602C>T:p.Arg23868Ter	coding	Pathogenic/Likely_pathogenic
2	178574569	C	A	C178574569A	TTN	NM_001267550.2(TTN):c.71563G>T:p.Gly23855Ter	coding	Pathogenic
2	178574763	C	T	C178574763T	TTN	NM_001267550.2(TTN):c.71369G>A:p.Arg23790His	coding	Benign/Likely_benign
2	178574811	C	T	C178574811T	TTN	NM_001267550.2(TTN):c.71321G>A:p.Trp23774Ter	coding	Pathogenic/Likely_pathogenic
2	178575134	T	C	T178575134C	TTN	NM_001267550.2(TTN):c.70998A>G:p.Thr23666=	coding	Benign/Likely_benign
2	178575154	G	A	G178575154A	TTN	NM_001267550.2(TTN):c.70978C>T:p.Arg23660Ter	coding	Pathogenic
2	178575225	C	T	C178575225T	TTN	NM_001267550.2(TTN):c.70907G>A:p.Arg23636His	coding	Benign/Likely_benign
2	178575256	C	A	C178575256A	TTN	NM_001267550.2(TTN):c.70876G>T:p.Glu23626Ter	coding	Pathogenic
2	178575302	G	A	G178575302A	TTN	NM_001267550.2(TTN):c.70830C>T:p.Ser23610=	coding	Benign
2	178575371	C	A	C178575371A	TTN	NM_001267550.2(TTN):c.70761G>T:p.Gly23587=	coding	Benign
2	178575418	G	A	G178575418A	TTN	NM_001267550.2(TTN):c.70714C>T:p.Gln23572Ter	coding	Pathogenic
2	178575436	C	G	C178575436G	TTN	NM_001267550.2(TTN):c.70696G>C:p.Gly23566Arg	coding	Benign/Likely_benign
2	178575626	C	A	C178575626A	TTN	NM_001267550.2(TTN):c.70506G>T:p.Gly23502=	coding	Benign/Likely_benign
2	178575752	C	T	C178575752T	TTN	NM_001267550.2(TTN):c.70380G>A:p.Leu23460=	coding	Benign/Likely_benign
2	178575827	C	T	C178575827T	TTN	NM_001267550.2(TTN):c.70305G>A:p.Thr23435=	coding	Benign/Likely_benign
2	178575882	A	G	A178575882G	TTN	NM_001267550.2(TTN):c.70250T>C:p.Ile23417Thr	coding	Benign/Likely_benign
2	178575970	G	A	G178575970A	TTN	NM_001267550.2(TTN):c.70162C>T:p.Arg23388Ter	coding	Pathogenic/Likely_pathogenic
2	178576392	G	A	G178576392A	TTN	NM_001267550.2(TTN):c.69740C>T:p.Pro23247Leu	coding	Benign/Likely_benign
2	178576393	G	A	G178576393A	TTN	NM_001267550.2(TTN):c.69739C>T:p.Pro23247Ser	coding	Benign
2	178576417	C	A	C178576417A	TTN	NM_001267550.2(TTN):c.69716-1G>T	coding	Pathogenic
2	178576568	T	C	T178576568C	TTN	NM_001267550.2(TTN):c.69676A>G:p.Ser23226Gly	coding	Benign/Likely_benign
2	178576659	G	A	G178576659A	TTN	NM_001267550.2(TTN):c.69585C>T:p.Ser23195=	coding	Benign/Likely_benign
2	178576913	C	G	C178576913G	TTN	NM_001267550.2(TTN):c.69412+10G>C	noncoding	Benign/Likely_benign
2	178577085	G	A	G178577085A	TTN	NM_001267550.2(TTN):c.69250C>T:p.Arg23084Ter	coding	Pathogenic
2	178577104	A	G	A178577104G	TTN	NM_001267550.2(TTN):c.69231T>C:p.Leu23077=	coding	Benign/Likely_benign
2	178577190	T	C	T178577190C	TTN	NM_001267550.2(TTN):c.69145A>G:p.Ile23049Val	coding	Benign/Likely_benign
2	178577191	T	C	T178577191C	TTN	NM_001267550.2(TTN):c.69144A>G:p.Glu23048=	coding	Benign
2	178577206	G	A	G178577206A	TTN	NM_001267550.2(TTN):c.69129C>T:p.Pro23043=	coding	Benign
2	178577603	G	T	G178577603T	TTN	NM_001267550.2(TTN):c.68823C>A:p.Tyr22941Ter	coding	Pathogenic
2	178577973	C	T	C178577973T	TTN	NM_001267550.2(TTN):c.68527+15G>A	noncoding	Benign
2	178578017	G	C	G178578017C	TTN	NM_001267550.2(TTN):c.68498C>G:p.Ser22833Ter	coding	Pathogenic
2	178578058	C	G	C178578058G	TTN	NM_001267550.2(TTN):c.68457G>C:p.Met22819Ile	coding	Benign
2	178578066	G	A	G178578066A	TTN	NM_001267550.2(TTN):c.68449C>T:p.Arg22817Ter	coding	Pathogenic/Likely_pathogenic
2	178578490	T	G	T178578490G	TTN	NM_001267550.2(TTN):c.68329+121A>C	noncoding	Benign
2	178578813	A	G	A178578813G	TTN	NM_001267550.2(TTN):c.68217T>C:p.His22739=	coding	Benign
2	178578870	G	A	G178578870A	TTN	NM_001267550.2(TTN):c.68160C>T:p.Ala22720=	coding	Benign/Likely_benign
2	178578951	C	T	C178578951T	TTN	NM_001267550.2(TTN):c.68079G>A:p.Thr22693=	coding	Benign/Likely_benign
2	178579410	A	G	A178579410G	TTN	NM_001267550.2(TTN):c.67637-17T>C	noncoding	Benign
2	178579559	A	G	A178579559G	TTN	NM_001267550.2(TTN):c.67636+2T>C	noncoding	Benign
2	178579562	A	G	A178579562G	TTN	NM_001267550.2(TTN):c.67635T>C:p.Val22545=	coding	Benign/Likely_benign
2	178579655	A	C	A178579655C	TTN	NM_001267550.2(TTN):c.67542T>G:p.Thr22514=	coding	Benign/Likely_benign
2	178579702	G	A	G178579702A	TTN	NM_001267550.2(TTN):c.67495C>T:p.Arg22499Ter	coding	Pathogenic/Likely_pathogenic
2	178579782	C	T	C178579782T	TTN	NM_001267550.2(TTN):c.67415G>A:p.Trp22472Ter	coding	Pathogenic
2	178579850	T	G	T178579850G	TTN	NM_001267550.2(TTN):c.67349-2A>C	noncoding	Pathogenic
2	178579928	C	G	C178579928G	TTN	NM_001267550.2(TTN):c.67348+11G>C	noncoding	Benign/Likely_benign
2	178580015	G	T	G178580015T	TTN	NM_001267550.2(TTN):c.67272C>A:p.Tyr22424Ter	coding	Pathogenic
2	178580041	C	G	C178580041G	TTN	NM_001267550.2(TTN):c.67246G>C:p.Ala22416Pro	coding	Benign
2	178580212	C	T	C178580212T	TTN	NM_001267550.2(TTN):c.67075G>A:p.Val22359Ile	coding	Benign/Likely_benign
2	178580230	C	G	C178580230G	TTN	NM_001267550.2(TTN):c.67058-1G>C	coding	Pathogenic
2	178580245	G	A	G178580245A	TTN	NM_001267550.2(TTN):c.67058-16C>T	noncoding	Benign
2	178580402	T	C	T178580402C	TTN	NM_001267550.2(TTN):c.66977A>G:p.Lys22326Arg	coding	Benign/Likely_benign
2	178581497	A	T	A178581497T	TTN	NM_001267550.2(TTN):c.66769+2T>A	noncoding	Pathogenic
2	178581650	G	T	G178581650T	TTN	NM_001267550.2(TTN):c.66618C>A:p.Cys22206Ter	coding	Pathogenic
2	178581654	C	T	C178581654T	TTN	NM_001267550.2(TTN):c.66614G>A:p.Arg22205Lys	coding	Benign/Likely_benign
2	178581692	G	T	G178581692T	TTN	NM_001267550.2(TTN):c.66576C>A:p.Leu22192=	coding	Benign/Likely_benign
2	178582280	C	T	C178582280T	TTN	NM_001267550.2(TTN):c.66160+16G>A	noncoding	Benign
2	178582566	T	A	T178582566A	TTN	NM_001267550.2(TTN):c.65890A>T:p.Lys21964Ter	coding	Pathogenic
2	178583060	G	T	G178583060T	TTN	NM_001267550.2(TTN):c.65743C>A:p.Gln21915Lys	coding	Benign/Likely_benign
2	178583121	T	C	T178583121C	TTN	NM_001267550.2(TTN):c.65682A>G:p.Thr21894=	coding	Benign
2	178583181	A	G	A178583181G	TTN	NM_001267550.2(TTN):c.65622T>C:p.Thr21874=	coding	Benign
2	178583588	A	C	A178583588C	TTN	NM_001267550.2(TTN):c.65575+19T>G	coding	Benign
2	178583666	G	A	G178583666A	TTN	NM_001267550.2(TTN):c.65516C>T:p.Ala21839Val	coding	Benign/Likely_benign
2	178584184	G	A	G178584184A	TTN	NM_001267550.2(TTN):c.65275+92C>T	noncoding	Benign
2	178584404	G	A	G178584404A	TTN	NM_001267550.2(TTN):c.65147C>T:p.Ser21716Leu	coding	Benign/Likely_benign
2	178584459	G	A	G178584459A	TTN	NM_001267550.2(TTN):c.65092C>T:p.Arg21698Cys	coding	Benign/Likely_benign
2	178584552	G	A	G178584552A	TTN	NM_001267550.2(TTN):c.64999C>T:p.Arg21667Ter	coding	Pathogenic/Likely_pathogenic
2	178586693	G	A	G178586693A	TTN	NM_001267550.2(TTN):c.64208C>T:p.Thr21403Ile	coding	Benign/Likely_benign
2	178587173	A	C	A178587173C	TTN	NM_001267550.2(TTN):c.64038T>G:p.Tyr21346Ter	coding	Pathogenic
2	178587179	G	A	G178587179A	TTN	NM_001267550.2(TTN):c.64032C>T:p.Asn21344=	coding	Benign/Likely_benign
2	178587230	T	C	T178587230C	TTN	NM_001267550.2(TTN):c.63981A>G:p.Val21327=	coding	Benign/Likely_benign
2	178587335	G	A	G178587335A	TTN	NM_001267550.2(TTN):c.63876C>T:p.Asn21292=	coding	Benign/Likely_benign
2	178587684	G	A	G178587684A	TTN	NM_001267550.2(TTN):c.63625C>T:p.Arg21209Ter	coding	Pathogenic/Likely_pathogenic
2	178588699	C	T	C178588699T	TTN	NM_001267550.2(TTN):c.63026G>A:p.Arg21009Gln	coding	Benign/Likely_benign
2	178588700	G	A	G178588700A	TTN	NM_001267550.2(TTN):c.63025C>T:p.Arg21009Ter	coding	Pathogenic/Likely_pathogenic
2	178588702	G	A	G178588702A	TTN	NM_001267550.2(TTN):c.63023C>T:p.Thr21008Ile	coding	Benign/Likely_benign
2	178589003	G	A	G178589003A	TTN	NM_001267550.2(TTN):c.62722C>T:p.Arg20908Ter	coding	Pathogenic/Likely_pathogenic
2	178589214	A	G	A178589214G	TTN	NM_001267550.2(TTN):c.62511T>C:p.Ser20837=	coding	Benign/Likely_benign
2	178589508	A	T	A178589508T	TTN	NM_001267550.2(TTN):c.62217T>A:p.Tyr20739Ter	coding	Pathogenic/Likely_pathogenic
2	178589547	A	G	A178589547G	TTN	NM_001267550.2(TTN):c.62178T>C:p.Thr20726=	coding	Benign/Likely_benign
2	178589576	T	C	T178589576C	TTN	NM_001267550.2(TTN):c.62149A>G:p.Arg20717Gly	coding	Benign/Likely_benign
2	178589667	A	G	A178589667G	TTN	NM_001267550.2(TTN):c.62058T>C:p.Tyr20686=	coding	Benign
2	178589849	G	A	G178589849A	TTN	NM_001267550.2(TTN):c.61876C>T:p.Arg20626Ter	coding	Pathogenic/Likely_pathogenic
2	178589985	A	G	A178589985G	TTN	NM_001267550.2(TTN):c.61740T>C:p.Asn20580=	coding	Benign
2	178590480	T	C	T178590480C	TTN	NM_001267550.2(TTN):c.61245A>G:p.Thr20415=	coding	Benign
2	178590904	G	A	G178590904A	TTN	NM_001267550.2(TTN):c.60821C>T:p.Pro20274Leu	coding	Benign/Likely_benign
2	178590992	G	A	G178590992A	TTN	NM_001267550.2(TTN):c.60733C>T:p.Arg20245Ter	coding	Pathogenic
2	178591104	A	G	A178591104G	TTN	NM_001267550.2(TTN):c.60621T>C:p.Tyr20207=	coding	Benign
2	178591235	C	G	C178591235G	TTN	NM_001267550.2(TTN):c.60490G>C:p.Val20164Leu	coding	Benign/Likely_benign
2	178591493	C	T	C178591493T	TTN	NM_001267550.2(TTN):c.60232G>A:p.Val20078Met	coding	Benign/Likely_benign
2	178591621	C	T	C178591621T	TTN	NM_001267550.2(TTN):c.60198G>A:p.Pro20066=	coding	Benign/Likely_benign
2	178591698	G	A	G178591698A	TTN	NM_001267550.2(TTN):c.60121C>T:p.Gln20041Ter	coding	Pathogenic
2	178591764	C	T	C178591764T	TTN	NM_001267550.2(TTN):c.60055G>A:p.Glu20019Lys	coding	Benign/Likely_benign
2	178591842	C	A	C178591842A	TTN	NM_001267550.2(TTN):c.59977G>T:p.Glu19993Ter	coding	Pathogenic
2	178591876	G	T	G178591876T	TTN	NM_001267550.2(TTN):c.59943C>A:p.Pro19981=	coding	Benign/Likely_benign
2	178591977	C	T	C178591977T	TTN	NM_001267550.2(TTN):c.59926+1G>A	noncoding	Pathogenic
2	178592420	G	A	G178592420A	TTN	NM_001267550.2(TTN):c.59585C>T:p.Pro19862Leu	coding	Benign/Likely_benign
2	178592421	G	A	G178592421A	TTN	NM_001267550.2(TTN):c.59584C>T:p.Pro19862Ser	coding	Benign
2	178592652	C	A	C178592652A	TTN	NM_001267550.2(TTN):c.59353G>T:p.Glu19785Ter	coding	Pathogenic
2	178592804	G	A	G178592804A	TTN	NM_001267550.2(TTN):c.59315C>T:p.Pro19772Leu	coding	Benign/Likely_benign
2	178592954	A	G	A178592954G	TTN	NM_001267550.2(TTN):c.59165T>C:p.Val19722Ala	coding	Benign/Likely_benign
2	178593275	G	A	G178593275A	TTN	NM_001267550.2(TTN):c.58933C>T:p.Leu19645=	coding	Benign
2	178593339	T	C	T178593339C	TTN	NM_001267550.2(TTN):c.58869A>G:p.Lys19623=	coding	Benign/Likely_benign
2	178593688	T	C	T178593688C	TTN	NM_001267550.2(TTN):c.58612A>G:p.Thr19538Ala	coding	Benign/Likely_benign
2	178593864	C	T	C178593864T	TTN	NM_001267550.2(TTN):c.58436G>A:p.Arg19479His	coding	Benign/Likely_benign
2	178594123	C	A	C178594123A	TTN	NM_001267550.2(TTN):c.58270G>T:p.Glu19424Ter	coding	Pathogenic
2	178594238	G	T	G178594238T	TTN	NM_001267550.2(TTN):c.58155C>A:p.Pro19385=	coding	Benign/Likely_benign
2	178594932	C	T	C178594932T	TTN	NM_001267550.2(TTN):c.57848-286G>A	noncoding	Benign
2	178595506	C	G	C178595506G	TTN	NM_001267550.2(TTN):c.57847+1G>C	noncoding	Pathogenic
2	178595584	C	T	C178595584T	TTN	NM_001267550.2(TTN):c.57770G>A:p.Arg19257Gln	coding	Benign
2	178595671	C	T	C178595671T	TTN	NM_001267550.2(TTN):c.57683G>A:p.Arg19228His	coding	Benign/Likely_benign
2	178595706	G	A	G178595706A	TTN	NM_001267550.2(TTN):c.57648C>T:p.Ile19216=	coding	Benign/Likely_benign
2	178597232	C	T	C178597232T	TTN	NM_001267550.2(TTN):c.57544+306G>A	noncoding	Benign
2	178597415	A	G	A178597415G	TTN	NM_001267550.2(TTN):c.57544+123T>C	noncoding	Benign
2	178597605	G	A	G178597605A	TTN	NM_001267550.2(TTN):c.57477C>T:p.Gly19159=	coding	Benign
2	178597618	C	T	C178597618T	TTN	NM_001267550.2(TTN):c.57464G>A:p.Arg19155Lys	coding	Benign/Likely_benign
2	178597620	C	T	C178597620T	TTN	NM_001267550.2(TTN):c.57462G>A:p.Gln19154=	coding	Benign/Likely_benign
2	178597751	G	A	G178597751A	TTN	NM_001267550.2(TTN):c.57331C>T:p.Arg19111Ter	coding	Pathogenic/Likely_pathogenic
2	178597767	A	G	A178597767G	TTN	NM_001267550.2(TTN):c.57315T>C:p.His19105=	coding	Benign
2	178598800	G	A	G178598800A	TTN	NM_001267550.2(TTN):c.56910C>T:p.Gly18970=	coding	Benign/Likely_benign
2	178598879	A	T	A178598879T	TTN	NM_001267550.2(TTN):c.56831T>A:p.Leu18944Ter	coding	Pathogenic
2	178598904	G	A	G178598904A	TTN	NM_001267550.2(TTN):c.56806C>T:p.Arg18936Ter	coding	Pathogenic/Likely_pathogenic
2	178599264	C	T	C178599264T	TTN	NM_001267550.2(TTN):c.56529G>A:p.Thr18843=	coding	Benign/Likely_benign
2	178599800	T	C	T178599800C	TTN	NM_001267550.2(TTN):c.56101A>G:p.Asn18701Asp	coding	Benign/Likely_benign
2	178599862	A	T	A178599862T	TTN	NM_001267550.2(TTN):c.56051-12T>A	noncoding	Benign
2	178600972	A	G	A178600972G	TTN	NM_001267550.2(TTN):c.55932T>C:p.Phe18644=	coding	Benign/Likely_benign
2	178600975	T	C	T178600975C	TTN	NM_001267550.2(TTN):c.55929A>G:p.Gln18643=	coding	Benign/Likely_benign
2	178601358	G	A	G178601358A	TTN	NM_001267550.2(TTN):c.55639C>T:p.Gln18547Ter	coding	Pathogenic
2	178601485	G	A	G178601485A	TTN	NM_001267550.2(TTN):c.55512C>T:p.Asp18504=	coding	Benign/Likely_benign
2	178601548	G	A	G178601548A	TTN	NM_001267550.2(TTN):c.55449C>T:p.Pro18483=	coding	Benign/Likely_benign
2	178601739	G	A	G178601739A	TTN	NM_001267550.2(TTN):c.55351C>T:p.Arg18451Ter	coding	Pathogenic/Likely_pathogenic
2	178602373	C	T	C178602373T	TTN	NM_001267550.2(TTN):c.55029G>A:p.Arg18343=	coding	Benign/Likely_benign
2	178602455	G	C	G178602455C	TTN	NM_001267550.2(TTN):c.54947C>G:p.Thr18316Ser	coding	Benign/Likely_benign
2	178602595	T	C	T178602595C	TTN	NM_001267550.2(TTN):c.54812-5A>G	noncoding	Benign/Likely_benign
2	178604659	A	G	A178604659G	TTN	NM_001267550.2(TTN):c.54381+49T>C	noncoding	Benign
2	178604881	T	G	T178604881G	TTN	NM_001267550.2(TTN):c.54208A>C:p.Arg18070=	coding	Benign/Likely_benign
2	178605011	G	A	G178605011A	TTN	NM_001267550.2(TTN):c.54166C>T:p.Arg18056Ter	coding	Pathogenic/Likely_pathogenic
2	178605072	C	T	C178605072T	TTN	NM_001267550.2(TTN):c.54105G>A:p.Ala18035=	coding	Benign/Likely_benign
2	178605234	T	A	T178605234A	TTN	NM_001267550.2(TTN):c.53943A>T:p.Gly17981=	coding	Benign
2	178605320	C	A	C178605320A	TTN	NM_001267550.2(TTN):c.53882-25G>T	coding	Benign
2	178605642	C	A	C178605642A	TTN	NM_001267550.2(TTN):c.53653G>T:p.Glu17885Ter	coding	Pathogenic/Likely_pathogenic
2	178605696	C	A	C178605696A	TTN	NM_001267550.2(TTN):c.53599G>T:p.Glu17867Ter	coding	Pathogenic/Likely_pathogenic
2	178607247	C	T	C178607247T	TTN	NM_001267550.2(TTN):c.53355G>A:p.Trp17785Ter	coding	Pathogenic
2	178607332	C	A	C178607332A	TTN	NM_001267550.2(TTN):c.53288-18G>T	noncoding	Benign
2	178607496	A	G	A178607496G	TTN	NM_001267550.2(TTN):c.53192T>C:p.Ile17731Thr	coding	Benign/Likely_benign
2	178607522	G	A	G178607522A	TTN	NM_001267550.2(TTN):c.53166C>T:p.Asn17722=	coding	Benign/Likely_benign
2	178607565	T	A	T178607565A	TTN	NM_001267550.2(TTN):c.53123A>T:p.Lys17708Ile	coding	Benign/Likely_benign
2	178607588	A	C	A178607588C	TTN	NM_001267550.2(TTN):c.53100T>G:p.Pro17700=	coding	Benign/Likely_benign
2	178607775	C	T	C178607775T	TTN	NM_001267550.2(TTN):c.53002+10G>A	noncoding	Benign/Likely_benign
2	178607825	C	T	C178607825T	TTN	NM_001267550.2(TTN):c.52962G>A:p.Pro17654=	coding	Benign/Likely_benign
2	178607870	A	G	A178607870G	TTN	NM_001267550.2(TTN):c.52917T>C:p.Asp17639=	coding	Benign/Likely_benign
2	178607930	G	T	G178607930T	TTN	NM_001267550.2(TTN):c.52857C>A:p.Cys17619Ter	coding	Pathogenic
2	178607966	A	G	A178607966G	TTN	NM_001267550.2(TTN):c.52821T>C:p.Asp17607=	coding	Benign/Likely_benign
2	178608098	T	C	T178608098C	TTN	NM_001267550.2(TTN):c.52706-17A>G	noncoding	Benign
2	178608199	T	A	T178608199A	TTN;TTN-AS1	NM_001267550.2(TTN):c.52684A>T:p.Lys17562Ter	coding	Pathogenic
2	178608410	C	T	C178608410T	TTN	NM_001267550.2(TTN):c.52473G>A:p.Trp17491Ter	coding	Pathogenic
2	178608493	C	T	C178608493T	TTN	NM_001267550.2(TTN):c.52406-16G>A	noncoding	Benign
2	178609302	G	C	G178609302C	TTN	NM_001267550.2(TTN):c.52008C>G:p.Val17336=	coding	Benign
2	178609319	C	G	C178609319G	TTN	NM_001267550.2(TTN):c.51991G>C:p.Glu17331Gln	coding	Benign/Likely_benign
2	178609489	G	T	G178609489T	TTN	NM_001267550.2(TTN):c.51821C>A:p.Ser17274Ter	coding	Pathogenic
2	178609670	G	T	G178609670T	TTN	NM_001267550.2(TTN):c.51739+14C>A	noncoding	Benign/Likely_benign
2	178609683	C	G	C178609683G	TTN	NM_001267550.2(TTN):c.51739+1G>C	noncoding	Pathogenic/Likely_pathogenic
2	178609739	C	T	C178609739T	TTN	NM_001267550.2(TTN):c.51684G>A:p.Ala17228=	coding	Benign/Likely_benign
2	178609769	G	C	G178609769C	TTN	NM_001267550.2(TTN):c.51654C>G:p.Tyr17218Ter	coding	Pathogenic
2	178609842	C	T	C178609842T	TTN	NM_001267550.2(TTN):c.51581G>A:p.Trp17194Ter	coding	Pathogenic
2	178609941	G	A	G178609941A	TTN	NM_001267550.2(TTN):c.51482C>T:p.Ala17161Val	coding	Benign/Likely_benign
2	178609987	C	G	C178609987G	TTN;TTN-AS1	NM_001267550.2(TTN):c.51437-1G>C	coding	Pathogenic
2	178610090	G	A	G178610090A	TTN	NM_001267550.2(TTN):c.51436C>T:p.Gln17146Ter	coding	Pathogenic/Likely_pathogenic
2	178611002	T	A	T178611002A	TTN	NM_001267550.2(TTN):c.51127A>T:p.Lys17043Ter	coding	Pathogenic
2	178611135	A	G	A178611135G	TTN	NM_001267550.2(TTN):c.50994T>C:p.Ser16998=	coding	Benign
2	178611269	T	A	T178611269A	TTN	NM_001267550.2(TTN):c.50860A>T:p.Lys16954Ter	coding	Pathogenic/Likely_pathogenic
2	178611280	T	G	T178611280G	TTN	NM_001256850.1(TTN):c.45935-9A>C	noncoding	Benign/Likely_benign
2	178611408	C	A	C178611408A	TTN	NM_001267550.2(TTN):c.50821G>T:p.Glu16941Ter	coding	Pathogenic
2	178611738	G	A	G178611738A	TTN	NM_001267550.2(TTN):c.50551+20C>T	noncoding	Benign
2	178612115	G	A	G178612115A	TTN	NM_001267550.2(TTN):c.50296C>T:p.Arg16766Ter	coding	Pathogenic/Likely_pathogenic
2	178612355	G	A	G178612355A	TTN	NM_001267550.2(TTN):c.50170C>T:p.Arg16724Ter	coding	Pathogenic/Likely_pathogenic
2	178612442	G	A	G178612442A	TTN	NM_001267550.2(TTN):c.50083C>T:p.Arg16695Ter	coding	Pathogenic
2	178612477	A	T	A178612477T	TTN;TTN-AS1	NM_001267550.2(TTN):c.50048T>A:p.Ile16683Asn	coding	Pathogenic
2	178612527	A	G	A178612527G	TTN	NM_001267550.2(TTN):c.49998T>C:p.Asn16666=	coding	Benign/Likely_benign
2	178612540	T	G	T178612540G	TTN	NM_001267550.2(TTN):c.49985A>C:p.Asn16662Thr	coding	Benign/Likely_benign
2	178612567	G	C	G178612567C	TTN	NM_001267550.2(TTN):c.49958C>G:p.Ser16653Ter	coding	Pathogenic
2	178612777	C	T	C178612777T	TTN	NM_001267550.2(TTN):c.49944G>A:p.Lys16648=	coding	Benign/Likely_benign
2	178612990	A	G	A178612990G	TTN	NM_001267550.2(TTN):c.49731T>C:p.His16577=	coding	Benign
2	178613145	A	G	A178613145G	TTN	NM_001267550.2(TTN):c.49648+16T>C	noncoding	Benign
2	178613840	T	G	T178613840G	TTN	NM_001267550.2(TTN):c.49443A>C:p.Pro16481=	coding	Benign/Likely_benign
2	178613870	C	T	C178613870T	TTN	NM_001267550.2(TTN):c.49413G>A:p.Trp16471Ter	coding	Pathogenic
2	178613912	T	A	T178613912A	TTN	NM_001267550.2(TTN):c.49371A>T:p.Leu16457=	coding	Benign/Likely_benign
2	178613938	C	T	C178613938T	TTN	NM_001256850.1(TTN):c.44423-1G>A	coding	Pathogenic/Likely_pathogenic
2	178613939	T	A	T178613939A	TTN	NM_001267550.2(TTN):c.49346-2A>T	noncoding	Pathogenic/Likely_pathogenic
2	178614051	C	T	C178614051T	TTN	NM_001267550.2(TTN):c.49345+1G>A	coding	Pathogenic
2	178614297	G	T	G178614297T	TTN	NM_001267550.2(TTN):c.49100C>A:p.Ser16367Ter	coding	Pathogenic
2	178614518	C	T	C178614518T	TTN	NM_001267550.2(TTN):c.48996G>A:p.Glu16332=	coding	Benign
2	178615014	G	A	G178615014A	TTN	NM_001267550.2(TTN):c.48639-46C>T	noncoding	Benign
2	178615633	G	A	G178615633A	TTN	NM_001267550.2(TTN):c.48460+8C>T	noncoding	Benign/Likely_benign
2	178616485	C	T	C178616485T	TTN	NM_001267550.2(TTN):c.48306G>A:p.Trp16102Ter	coding	Pathogenic
2	178616508	G	A	G178616508A	TTN	NM_001267550.2(TTN):c.48283C>T:p.Arg16095Ter	coding	Pathogenic
2	178616934	T	C	T178616934C	TTN	NM_001267550.2(TTN):c.47955A>G:p.Pro15985=	coding	Benign/Likely_benign
2	178617031	T	G	T178617031G	TTN	NM_001267550.2(TTN):c.47876-18A>C	noncoding	Benign
2	178617362	C	T	C178617362T	TTN	NM_001267550.2(TTN):c.47723G>A:p.Arg15908His	coding	Benign/Likely_benign
2	178617857	G	A	G178617857A	TTN	NM_001267550.2(TTN):c.47494C>T:p.Arg15832Ter	coding	Pathogenic/Likely_pathogenic
2	178617872	G	A	G178617872A	TTN	NM_001267550.2(TTN):c.47479C>T:p.Gln15827Ter	coding	Pathogenic
2	178617951	C	T	C178617951T	TTN	NM_001267550.2(TTN):c.47400G>A:p.Lys15800=	coding	Benign/Likely_benign
2	178618080	A	G	A178618080G	TTN	NM_001267550.2(TTN):c.47271T>C:p.Asp15757=	coding	Benign/Likely_benign
2	178618510	G	C	G178618510C	TTN	NM_001267550.2(TTN):c.46967-19C>G	noncoding	Benign
2	178618858	T	C	T178618858C	TTN	NM_003319.4(TTN):c.19502-5A>G	noncoding	Benign/Likely_benign
2	178618865	G	A	G178618865A	TTN	NM_001267550.2(TTN):c.46697-12C>T	noncoding	Benign
2	178619327	C	T	C178619327T	TTN	NM_001267550.2(TTN):c.46696+294G>A	noncoding	Benign
2	178619624	C	A	C178619624A	TTN	NM_001267550.2(TTN):c.46693G>T:p.Ala15565Ser	coding	Benign/Likely_benign
2	178620872	A	G	A178620872G	TTN	NM_001267550.2(TTN):c.45738T>C:p.Ala15246=	coding	Benign/Likely_benign
2	178621192	G	A	G178621192A	TTN	NM_001267550.2(TTN):c.45526C>T:p.Leu15176=	coding	Benign/Likely_benign
2	178621381	A	G	A178621381G	TTN	NM_001267550.2(TTN):c.45350-13T>C	noncoding	Benign/Likely_benign
2	178621452	A	T	A178621452T	TTN	NM_001267550.2(TTN):c.45349+23T>A	noncoding	Benign
2	178621618	T	A	T178621618A	TTN	NM_001267550.2(TTN):c.45206A>T:p.Glu15069Val	coding	Benign/Likely_benign
2	178621649	C	T	C178621649T	TTN	NM_001267550.2(TTN):c.45175G>A:p.Ala15059Thr	coding	Benign/Likely_benign
2	178621650	G	A	G178621650A	TTN	NM_001267550.2(TTN):c.45174C>T:p.Gly15058=	coding	Benign/Likely_benign
2	178621704	A	C	A178621704C	TTN	NM_001267550.2(TTN):c.45120T>G:p.Ile15040Met	coding	Benign/Likely_benign
2	178621751	T	C	T178621751C	TTN	NM_001267550.2(TTN):c.45083-10A>G	noncoding	Benign/Likely_benign
2	178621869	G	A	G178621869A	TTN	NM_001267550.2(TTN):c.45053C>T:p.Ala15018Val	coding	Benign/Likely_benign
2	178622411	A	T	A178622411T	TTN	NM_001267550.2(TTN):c.44913+259T>A	noncoding	Benign
2	178622956	T	G	T178622956G	TTN	NM_001267550.2(TTN):c.44816-189A>C	noncoding	Benign
2	178624496	A	G	A178624496G	TTN	NM_001267550.2(TTN):c.44784T>C:p.Asp14928=	coding	Benign/Likely_benign
2	178624999	A	G	A178624999G	TTN	NM_001267550.2(TTN):c.44549-268T>C	noncoding	Benign
2	178625264	T	C	T178625264C	TTN	NM_001267550.2(TTN):c.44548+9A>G	noncoding	Benign/Likely_benign
2	178625292	G	A	G178625292A	TTN	NM_001267550.2(TTN):c.44529C>T:p.His14843=	coding	Benign/Likely_benign
2	178631015	C	G	C178631015G	TTN	NM_001267550.2(TTN):c.44014+19G>C	noncoding	Benign
2	178632190	T	C	T178632190C	TTN	NM_001267550.2(TTN):c.43704A>G:p.Val14568=	coding	Benign/Likely_benign
2	178632291	G	A	G178632291A	TTN	NM_001267550.2(TTN):c.43603C>T:p.Arg14535Cys	coding	Benign/Likely_benign
2	178632298	A	G	A178632298G	TTN	NM_001267550.2(TTN):c.43596T>C:p.Asn14532=	coding	Benign
2	178632406	C	T	C178632406T	TTN	NM_001267550.2(TTN):c.43488G>A:p.Arg14496=	coding	Benign/Likely_benign
2	178633315	T	C	T178633315C	TTN	NM_001267550.2(TTN):c.42958A>G:p.Lys14320Glu	coding	Benign/Likely_benign
2	178633576	T	C	T178633576C	TTN	NM_001267550.2(TTN):c.42783A>G:p.Lys14261=	coding	Benign
2	178634311	A	G	A178634311G	TTN	NM_001267550.2(TTN):c.42415+55T>C	noncoding	Benign
2	178634562	G	A	G178634562A	TTN	NM_001267550.2(TTN):c.42219C>T:p.Phe14073=	coding	Benign/Likely_benign
2	178634625	G	A	G178634625A	TTN	NM_001267550.2(TTN):c.42156C>T:p.Ile14052=	coding	Benign/Likely_benign
2	178634803	T	C	T178634803C	TTN	NM_001267550.2(TTN):c.42071A>G:p.His14024Arg	coding	Benign/Likely_benign
2	178635159	A	G	A178635159G	TTN	NM_001267550.2(TTN):c.42024+6T>C	noncoding	Benign/Likely_benign
2	178635320	A	G	A178635320G	TTN	NM_001267550.2(TTN):c.41885-16T>C	noncoding	Benign
2	178635514	G	A	G178635514A	TTN	NM_001267550.2(TTN):c.41810C>T:p.Ala13937Val	coding	Benign/Likely_benign
2	178636063	A	G	A178636063G	TTN	NM_001267550.2(TTN):c.41508T>C:p.Ala13836=	coding	Benign/Likely_benign
2	178636717	A	G	A178636717G	TTN	NM_001267550.2(TTN):c.41010T>C:p.Asp13670=	coding	Benign/Likely_benign
2	178637353	G	A	G178637353A	TTN	NM_001267550.2(TTN):c.40927+16C>T	noncoding	Benign
2	178637662	A	G	A178637662G	TTN	NM_001267550.2(TTN):c.40877-243T>C	noncoding	Benign
2	178640033	G	T	G178640033T	TTN	NM_001267550.2(TTN):c.40786+15C>A	noncoding	Benign
2	178642280	C	T	C178642280T	TTN	NM_001267550.2(TTN):c.40515G>A:p.Pro13505=	coding	Benign/Likely_benign
2	178642614	A	G	A178642614G	TTN	NM_001267550.2(TTN):c.40478-297T>C	noncoding	Benign
2	178644773	G	A	G178644773A	TTN	NM_001267550.2(TTN):c.40409-157C>T	noncoding	Benign
2	178646532	G	A	G178646532A	TTN	NM_001267550.2(TTN):c.40250C>T:p.Pro13417Leu	coding	Benign/Likely_benign
2	178647374	C	T	C178647374T	TTN	NM_001267550.2(TTN):c.40141+7G>A	noncoding	Benign
2	178649196	A	T	A178649196T	TTN	NM_001267550.2(TTN):c.40057+52T>A	noncoding	Benign
2	178649342	A	C	A178649342C	TTN	NM_001267550.2(TTN):c.39974-11T>G	noncoding	Pathogenic
2	178649481	G	A	G178649481A	TTN	NM_001267550.2(TTN):c.39973+73C>T	noncoding	Benign
2	178649706	T	C	T178649706C	TTN	NM_001267550.2(TTN):c.39896-75A>G	noncoding	Benign
2	178650745	G	A	G178650745A	TTN	NM_001267550.2(TTN):c.39709+6C>T	noncoding	Benign/Likely_benign
2	178650756	G	C	G178650756C	TTN	NM_001267550.2(TTN):c.39704C>G:p.Pro13235Arg	coding	Benign
2	178650770	C	T	C178650770T	TTN	NM_001267550.2(TTN):c.39690G>A:p.Ala13230=	coding	Benign/Likely_benign
2	178651047	A	G	A178651047G	TTN	NM_001267550.2(TTN):c.39625+196T>C	noncoding	Benign
2	178651980	G	A	G178651980A	TTN	NM_001267550.2(TTN):c.39296-13C>T	noncoding	Benign
2	178652292	A	T	A178652292T	TTN	NM_001267550.2(TTN):c.39183T>A:p.Pro13061=	coding	Benign/Likely_benign
2	178652448	T	G	T178652448G	TTN	NM_001267550.2(TTN):c.39127+10A>C	noncoding	Benign/Likely_benign
2	178652500	G	T	G178652500T	TTN	NM_001267550.2(TTN):c.39085C>A:p.Pro13029Thr	coding	Benign/Likely_benign
2	178652503	C	T	C178652503T	TTN	NM_001267550.2(TTN):c.39082G>A:p.Val13028Met	coding	Benign/Likely_benign
2	178652528	C	T	C178652528T	TTN	NM_001267550.2(TTN):c.39057G>A:p.Pro13019=	coding	Benign/Likely_benign
2	178652540	C	G	C178652540G	TTN	NM_001267550.2(TTN):c.39045G>C:p.Val13015=	coding	Benign/Likely_benign
2	178652690	C	A	C178652690A	TTN	NM_001267550.2(TTN):c.39006G>T:p.Ser13002=	coding	Benign
2	178652852	A	C	A178652852C	TTN	NM_001267550.2(TTN):c.38955T>G:p.Val12985=	coding	Benign
2	178652878	G	A	G178652878A	TTN	NM_001267550.2(TTN):c.38929C>T:p.Pro12977Ser	coding	Benign/Likely_benign
2	178652927	T	C	T178652927C	TTN	NM_001267550.2(TTN):c.38880A>G:p.Pro12960=	coding	Benign
2	178653276	A	G	A178653276G	TTN	NM_001267550.2(TTN):c.38753T>C:p.Leu12918Ser	coding	Benign
2	178653325	A	G	A178653325G	TTN	NM_001267550.2(TTN):c.38708-4T>C	noncoding	Benign/Likely_benign
2	178653350	A	G	A178653350G	TTN	NM_001267550.2(TTN):c.38708-29T>C	noncoding	Benign
2	178654210	T	C	T178654210C	TTN	NM_001267550.2(TTN):c.38378A>G:p.Lys12793Arg	coding	Benign
2	178654265	G	A	G178654265A	TTN	NM_001267550.2(TTN):c.38323C>T:p.Leu12775Phe	coding	Benign
2	178654485	C	T	C178654485T	TTN	NM_001267550.2(TTN):c.38256G>A:p.Pro12752=	coding	Benign/Likely_benign
2	178657580	C	A	C178657580A	TTN	NM_001267550.2(TTN):c.37956G>T:p.Val12652=	coding	Benign/Likely_benign
2	178657610	G	A	G178657610A	TTN	NM_001267550.2(TTN):c.37955-29C>T	noncoding	Benign
2	178658147	A	G	A178658147G	TTN	NM_001267550.2(TTN):c.37722T>C:p.Val12574=	coding	Benign/Likely_benign
2	178658278	C	T	C178658278T	TTN	NM_001267550.2(TTN):c.37705G>A:p.Val12569Ile	coding	Benign
2	178658641	G	A	G178658641A	TTN	NM_001267550.2(TTN):c.37543+64C>T	noncoding	Benign
2	178658787	T	A	T178658787A	TTN	NM_001267550.2(TTN):c.37461A>T:p.Glu12487Asp	coding	Benign
2	178661797	G	A	G178661797A	TTN	NM_001267550.2(TTN):c.37247C>T:p.Ser12416Leu	coding	Benign/Likely_benign
2	178661846	A	G	A178661846G	TTN	NM_001267550.2(TTN):c.37202-4T>C	noncoding	Benign
2	178662014	G	A	G178662014A	TTN	NM_001267550.2(TTN):c.37135C>T:p.Gln12379Ter	coding	Pathogenic
2	178662368	G	A	G178662368A	TTN	NM_001267550.2(TTN):c.37009C>T:p.Pro12337Ser	coding	Benign
2	178662748	C	T	C178662748T	TTN	NM_001267550.2(TTN):c.36855G>A:p.Pro12285=	coding	Benign/Likely_benign
2	178663071	T	C	T178663071C	TTN	NM_001267550.2(TTN):c.36701-16A>G	noncoding	Benign/Likely_benign
2	178663290	T	C	T178663290C	TTN	NM_001267550.2(TTN):c.36676A>G:p.Lys12226Glu	coding	Benign/Likely_benign
2	178663341	C	A	C178663341A	TTN	NM_001267550.2(TTN):c.36625G>T:p.Val12209Leu	coding	Benign
2	178663608	T	C	T178663608C	TTN	NM_001267550.2(TTN):c.36532+19A>G	noncoding	Benign
2	178663651	C	T	C178663651T	TTN	NM_001267550.2(TTN):c.36508G>A:p.Glu12170Lys	coding	Benign
2	178663670	C	T	C178663670T	TTN	NM_001267550.2(TTN):c.36489G>A:p.Ala12163=	coding	Benign/Likely_benign
2	178664032	T	C	T178664032C	TTN	NM_001267550.2(TTN):c.36347A>G:p.Glu12116Gly	coding	Benign/Likely_benign
2	178664061	T	C	T178664061C	TTN	NM_001267550.2(TTN):c.36318A>G:p.Lys12106=	coding	Benign
2	178664080	T	A	T178664080A	TTN	NM_001267550.2(TTN):c.36299A>T:p.Glu12100Val	coding	Benign
2	178664094	G	A	G178664094A	TTN	NM_001267550.2(TTN):c.36285C>T:p.His12095=	coding	Benign/Likely_benign
2	178664262	C	T	C178664262T	TTN	NM_001267550.2(TTN):c.36281-164G>A	noncoding	Benign
2	178664546	A	G	A178664546G	TTN	NM_001267550.2(TTN):c.36203-9T>C	noncoding	Benign
2	178664730	T	G	T178664730G	TTN	NM_001267550.2(TTN):c.36126A>C:p.Glu12042Asp	coding	Benign
2	178667129	G	A	G178667129A	TTN	NM_001267550.2(TTN):c.35797+107C>T	noncoding	Benign
2	178669457	T	C	T178669457C	TTN	NM_001267550.2(TTN):c.35471-10A>G	noncoding	Benign
2	178671182	T	C	T178671182C	TTN	NM_001267550.2(TTN):c.35228-12A>G	noncoding	Benign
2	178672157	C	A	C178672157A	TTN	NM_001267550.2(TTN):c.35041G>T:p.Glu11681Ter	coding	Pathogenic
2	178672228	C	T	C178672228T	TTN	NM_001267550.2(TTN):c.34970G>A:p.Arg11657His	coding	Benign/Likely_benign
2	178672498	T	C	T178672498C	TTN	NM_001267550.2(TTN):c.34856-17A>G	noncoding	Benign
2	178673650	T	C	T178673650C	TTN	NM_001267550.2(TTN):c.34769A>G:p.Glu11590Gly	coding	Benign/Likely_benign
2	178674306	G	T	G178674306T	TTN	NM_001256850.1(TTN):c.33586+8C>A	noncoding	Benign/Likely_benign
2	178675176	C	A	C178675176A	TTN	NM_001267550.2(TTN):c.34538-63G>T	noncoding	Benign
2	178675236	T	C	T178675236C	TTN	NM_001267550.2(TTN):c.34538-123A>G	noncoding	Benign
2	178675703	C	A	C178675703A	TTN	NM_001267550.2(TTN):c.34505G>T:p.Gly11502Val	coding	Benign
2	178675907	C	T	C178675907T	TTN	NM_001267550.2(TTN):c.34453+14G>A	noncoding	Benign/Likely_benign
2	178675909	G	T	G178675909T	TTN	NM_001267550.2(TTN):c.34453+12C>A	noncoding	Benign/Likely_benign
2	178677506	G	A	G178677506A	TTN	NM_001267550.2(TTN):c.34291+115C>T	noncoding	Benign
2	178678332	A	G	A178678332G	TTN	NM_001267550.2(TTN):c.33910+82T>C	noncoding	Benign
2	178678490	C	T	C178678490T	TTN	NM_001267550.2(TTN):c.33834G>A:p.Glu11278=	coding	Benign
2	178678730	A	T	A178678730T	TTN	NM_001267550.2(TTN):c.33826+17T>A	noncoding	Benign
2	178678746	C	T	C178678746T	TTN	NM_001267550.2(TTN):c.33826+1G>A	noncoding	Pathogenic
2	178678978	G	A	G178678978A	TTN	NM_001267550.2(TTN):c.33743-148C>T	noncoding	Benign
2	178679328	T	C	T178679328C	TTN	NM_001267550.2(TTN):c.33742+11A>G	noncoding	Benign/Likely_benign
2	178679331	G	A	G178679331A	TTN	NM_001267550.2(TTN):c.33742+8C>T	noncoding	Benign/Likely_benign
2	178679579	G	A	G178679579A	TTN	NM_001267550.2(TTN):c.33664+20C>T	noncoding	Benign
2	178679700	A	G	A178679700G	TTN	NM_001267550.2(TTN):c.33581-18T>C	noncoding	Benign
2	178679842	C	A	C178679842A	TTN	NM_001267550.2(TTN):c.33580+52G>T	noncoding	Benign
2	178681069	A	G	A178681069G	TTN	NM_001267550.2(TTN):c.33340+10T>C	noncoding	Benign/Likely_benign
2	178681132	C	T	C178681132T	TTN	NM_001267550.2(TTN):c.33287G>A:p.Arg11096His	coding	Benign/Likely_benign
2	178682566	G	A	G178682566A	TTN	NM_001267550.2(TTN):c.33094+131C>T	noncoding	Benign
2	178682773	T	C	T178682773C	TTN	NM_001267550.2(TTN):c.33018A>G:p.Thr11006=	coding	Benign/Likely_benign
2	178683133	A	G	A178683133G	TTN	NM_001267550.2(TTN):c.32887+78T>C	noncoding	Benign
2	178683301	A	T	A178683301T	TTN	NM_001267550.2(TTN):c.32807-10T>A	noncoding	Benign/Likely_benign
2	178684062	C	G	C178684062G	TTN	NM_001267550.2(TTN):c.32743G>C:p.Ala10915Pro	coding	Benign/Likely_benign
2	178684321	C	T	C178684321T	TTN	NM_001267550.2(TTN):c.32722+9G>A	noncoding	Benign/Likely_benign
2	178684404	C	T	C178684404T	TTN	NM_001267550.2(TTN):c.32648G>A:p.Arg10883Lys	coding	Benign/Likely_benign
2	178684755	A	G	A178684755G	TTN	NM_001267550.2(TTN):c.32555-6T>C	noncoding	Benign/Likely_benign
2	178685342	T	C	T178685342C	TTN	NM_001267550.2(TTN):c.32393-12A>G	noncoding	Benign/Likely_benign
2	178685543	C	T	C178685543T	TTN	NM_001267550.2(TTN):c.32367G>A:p.Lys10789=	coding	Benign/Likely_benign
2	178685560	G	C	G178685560C	TTN	NM_001267550.2(TTN):c.32350C>G:p.Leu10784Val	coding	Benign/Likely_benign
2	178685599	C	T	C178685599T	TTN	NM_001267550.2(TTN):c.32312-1G>A	coding	Pathogenic
2	178688168	C	T	C178688168T	TTN	NM_001267550.2(TTN):c.32254G>A:p.Val10752Ile	coding	Benign/Likely_benign
2	178689099	T	C	T178689099C	TTN	NM_001267550.2(TTN):c.32049A>G:p.Lys10683=	coding	Benign/Likely_benign
2	178689190	G	A	G178689190A	TTN	NM_001267550.2(TTN):c.32012-54C>T	noncoding	Benign
2	178689280	G	C	G178689280C	TTN	NM_001267550.2(TTN):c.32011+10C>G	noncoding	Benign
2	178689578	C	T	C178689578T	TTN	NM_001267550.2(TTN):c.31864G>A:p.Gly10622Arg	coding	Benign/Likely_benign
2	178689612	T	C	T178689612C	TTN	NM_001267550.2(TTN):c.31847-17A>G	noncoding	Benign/Likely_benign
2	178692457	T	C	T178692457C	TTN	NM_001267550.2(TTN):c.31678+40A>G	noncoding	Benign
2	178693555	T	A	T178693555A	TTN	NM_001267550.2(TTN):c.31594+54A>T	noncoding	Benign
2	178693639	T	C	T178693639C	TTN	NM_001267550.2(TTN):c.31564A>G:p.Ile10522Val	coding	Benign/Likely_benign
2	178696106	G	A	G178696106A	TTN	NM_001267550.2(TTN):c.30966C>T:p.Asp10322=	coding	Benign
2	178696120	C	T	C178696120T	TTN	NM_001267550.2(TTN):c.30952G>A:p.Glu10318Lys	coding	Benign/Likely_benign
2	178696184	T	C	T178696184C	TTN	NM_001267550.2(TTN):c.30888A>G:p.Lys10296=	coding	Benign/Likely_benign
2	178697413	T	C	T178697413C	TTN	NM_001267550.2(TTN):c.30755-245A>G	noncoding	Benign
2	178698932	G	A	G178698932A	TTN	NM_001267550.2(TTN):c.30683-18C>T	noncoding	Benign
2	178701513	G	A	G178701513A	TTN	NM_001267550.2(TTN):c.30598+15C>T	noncoding	Benign
2	178702149	T	C	T178702149C	TTN	NM_001267550.2(TTN):c.30511+19A>G	noncoding	Benign
2	178702235	C	T	C178702235T	TTN	NM_001267550.2(TTN):c.30444G>A:p.Ser10148=	coding	Benign/Likely_benign
2	178702461	G	A	G178702461A	TTN	NM_001267550.2(TTN):c.30426C>T:p.Asp10142=	coding	Benign/Likely_benign
2	178702503	A	G	A178702503G	TTN	NM_001267550.2(TTN):c.30384T>C:p.Asp10128=	coding	Benign/Likely_benign
2	178702671	A	C	A178702671C	TTN	NM_001267550.2(TTN):c.30224-8T>G	noncoding	Benign/Likely_benign
2	178702907	T	C	T178702907C	TTN	NM_001267550.2(TTN):c.30224-244A>G	noncoding	Benign
2	178703955	C	T	C178703955T	TTN	NM_001267550.2(TTN):c.30223+192G>A	noncoding	Benign
2	178704408	C	G	C178704408G	TTN	NM_001267550.2(TTN):c.29963-1G>C	coding	Pathogenic
2	178704660	T	A	T178704660A	TTN	NM_001267550.2(TTN):c.29812A>T:p.Thr9938Ser	coding	Benign/Likely_benign
2	178704673	C	T	C178704673T	TTN	NM_001267550.2(TTN):c.29799G>A:p.Ser9933=	coding	Benign
2	178704709	A	G	A178704709G	TTN	NM_001267550.2(TTN):c.29763T>C:p.Ile9921=	coding	Benign
2	178704978	A	G	A178704978G	TTN	NM_001267550.2(TTN):c.29605-12T>C	noncoding	Benign/Likely_benign
2	178705387	A	T	A178705387T	TTN	NM_001267550.2(TTN):c.29421-30T>A	noncoding	Benign
2	178706549	G	A	G178706549A	TTN	NM_001267550.2(TTN):c.29325C>T:p.Asn9775=	coding	Benign
2	178706696	G	T	G178706696T	TTN	NM_001267550.2(TTN):c.29178C>A:p.Ile9726=	coding	Benign/Likely_benign
2	178706721	A	G	A178706721G	TTN	NM_001267550.2(TTN):c.29153T>C:p.Ile9718Thr	coding	Benign/Likely_benign
2	178706868	C	T	C178706868T	TTN	NM_001267550.2(TTN):c.29128G>A:p.Val9710Ile	coding	Benign/Likely_benign
2	178706970	C	T	C178706970T	TTN	NM_001267550.2(TTN):c.29042-16G>A	noncoding	Benign
2	178707215	C	T	C178707215T	TTN	NM_001267550.2(TTN):c.29042-261G>A	noncoding	Benign
2	178707245	G	C	G178707245C	TTN	NM_001267550.2(TTN):c.29041+281C>G	noncoding	Benign
2	178707381	A	G	A178707381G	TTN	NM_001267550.2(TTN):c.29041+145T>C	noncoding	Benign
2	178707597	G	A	G178707597A	TTN	NM_001267550.2(TTN):c.28970C>T:p.Ser9657Leu	coding	Benign/Likely_benign
2	178709641	C	T	C178709641T	TTN	NM_001267550.2(TTN):c.28678G>A:p.Asp9560Asn	coding	Benign/Likely_benign
2	178709642	G	A	G178709642A	TTN	NM_001267550.2(TTN):c.28677C>T:p.Asn9559=	coding	Benign/Likely_benign
2	178709657	C	T	C178709657T	TTN	NM_001267550.2(TTN):c.28662G>A:p.Arg9554=	coding	Benign
2	178709988	A	G	A178709988G	TTN	NM_001267550.2(TTN):c.28463-132T>C	noncoding	Benign
2	178710784	C	T	C178710784T	TTN	NM_001267550.2(TTN):c.28313G>A:p.Arg9438Gln	coding	Benign/Likely_benign
2	178711674	C	T	C178711674T	TTN	NM_001267550.2(TTN):c.27886+270G>A	noncoding	Benign
2	178711869	A	T	A178711869T	TTN	NM_001267550.2(TTN):c.27886+75T>A	noncoding	Benign
2	178711984	G	A	G178711984A	TTN	NM_001267550.2(TTN):c.27846C>T:p.Ser9282=	coding	Benign/Likely_benign
2	178712315	C	A	C178712315A	TTN	NM_001267550.2(TTN):c.27607G>T:p.Glu9203Ter	coding	Pathogenic
2	178712752	G	A	G178712752A	TTN	NM_001267550.2(TTN):c.27273C>T:p.Cys9091=	coding	Benign/Likely_benign
2	178713143	T	C	T178713143C	TTN	NM_001267550.2(TTN):c.26991A>G:p.Thr8997=	coding	Benign/Likely_benign
2	178713751	C	A	C178713751A	TTN	NM_001267550.2(TTN):c.26761+146G>T	noncoding	Benign
2	178713976	C	T	C178713976T	TTN	NM_001267550.2(TTN):c.26682G>A:p.Pro8894=	coding	Benign/Likely_benign
2	178713977	G	A	G178713977A	TTN	NM_001267550.2(TTN):c.26681C>T:p.Pro8894Leu	coding	Benign/Likely_benign
2	178714003	G	A	G178714003A	TTN	NM_001267550.2(TTN):c.26655C>T:p.Ser8885=	coding	Benign
2	178714210	A	G	A178714210G	TTN	NM_001267550.2(TTN):c.26483-35T>C	noncoding	Benign
2	178714366	T	C	T178714366C	TTN	NM_001267550.2(TTN):c.26408A>G:p.Asn8803Ser	coding	Benign/Likely_benign
2	178714485	T	C	T178714485C	TTN	NM_001267550.2(TTN):c.26289A>G:p.Glu8763=	coding	Benign
2	178714529	C	T	C178714529T	TTN	NM_001267550.2(TTN):c.26245G>A:p.Val8749Ile	coding	Benign/Likely_benign
2	178714639	G	A	G178714639A	TTN	NM_001267550.2(TTN):c.26201-66C>T	noncoding	Benign
2	178714967	T	A	T178714967A	TTN	NM_001267550.2(TTN):c.26200+19A>T	noncoding	Benign
2	178715095	T	A	T178715095A	TTN	NM_001267550.2(TTN):c.26091A>T:p.Leu8697=	coding	Benign
2	178715250	G	A	G178715250A	TTN	NM_001267550.2(TTN):c.25936C>T:p.Arg8646Cys	coding	Benign/Likely_benign
2	178715341	A	C	A178715341C	TTN	NM_001267550.2(TTN):c.25922-77T>G	noncoding	Benign
2	178715366	A	C	A178715366C	TTN	NM_001267550.2(TTN):c.25922-102T>G	noncoding	Benign
2	178715473	C	T	C178715473T	TTN	NM_001267550.2(TTN):c.25921+20G>A	noncoding	Benign/Likely_benign
2	178715483	G	A	G178715483A	TTN	NM_001267550.2(TTN):c.25921+10C>T	noncoding	Benign
2	178715605	C	T	C178715605T	TTN	NM_001267550.2(TTN):c.25809G>A:p.Ser8603=	coding	Benign/Likely_benign
2	178715707	A	G	A178715707G	TTN	NM_001267550.2(TTN):c.25707T>C:p.Tyr8569=	coding	Benign
2	178715798	C	T	C178715798T	TTN	NM_001267550.2(TTN):c.25640-24G>A	noncoding	Benign
2	178715856	T	C	T178715856C	TTN	NM_001267550.2(TTN):c.25640-82A>G	noncoding	Benign
2	178716913	T	A	T178716913A	TTN	NM_001267550.2(TTN):c.25639+182A>T	noncoding	Benign
2	178717108	C	A	C178717108A	TTN	NM_001267550.2(TTN):c.25626G>T:p.Gln8542His	coding	Benign
2	178717108	C	T	C178717108T	TTN	NM_001267550.2(TTN):c.25626G>A:p.Gln8542=	coding	Benign
2	178717336	A	T	A178717336T	TTN	NM_001267550.2(TTN):c.25398T>A:p.Asp8466Glu	coding	Benign/Likely_benign
2	178717435	C	T	C178717435T	TTN	NM_001267550.2(TTN):c.25352-53G>A	noncoding	Benign
2	178717600	C	T	C178717600T	TTN	NM_001267550.2(TTN):c.25274G>A:p.Ser8425Asn	coding	Benign/Likely_benign
2	178717651	G	A	G178717651A	TTN	NM_001267550.2(TTN):c.25223C>T:p.Thr8408Ile	coding	Benign/Likely_benign
2	178717665	A	G	A178717665G	TTN	NM_001267550.2(TTN):c.25209T>C:p.Asp8403=	coding	Benign/Likely_benign
2	178717740	T	C	T178717740C	TTN	NM_001267550.2(TTN):c.25134A>G:p.Ala8378=	coding	Benign/Likely_benign
2	178717810	G	T	G178717810T	TTN	NM_001267550.2(TTN):c.25064C>A:p.Ala8355Glu	coding	Benign/Likely_benign
2	178717878	A	G	A178717878G	TTN	NM_001267550.2(TTN):c.25063+65T>C	noncoding	Benign
2	178717998	G	A	G178717998A	TTN	NM_001267550.2(TTN):c.25008C>T:p.Cys8336=	coding	Benign/Likely_benign
2	178718033	T	C	T178718033C	TTN	NM_001267550.2(TTN):c.24973A>G:p.Lys8325Glu	coding	Benign/Likely_benign
2	178718097	C	T	C178718097T	TTN	NM_001267550.2(TTN):c.24909G>A:p.Lys8303=	coding	Benign/Likely_benign
2	178718126	T	C	T178718126C	TTN	NM_001267550.2(TTN):c.24880A>G:p.Arg8294Gly	coding	Benign/Likely_benign
2	178718527	T	C	T178718527C	TTN	NM_001267550.2(TTN):c.24579A>G:p.Thr8193=	coding	Benign/Likely_benign
2	178718590	G	A	G178718590A	TTN	NM_001267550.2(TTN):c.24516C>T:p.Thr8172=	coding	Benign/Likely_benign
2	178718616	A	G	A178718616G	TTN	NM_001267550.2(TTN):c.24506-16T>C	noncoding	Benign
2	178718671	T	C	T178718671C	TTN	NM_001267550.2(TTN):c.24505+24A>G	noncoding	Benign
2	178718682	G	A	G178718682A	TTN	NM_001267550.2(TTN):c.24505+13C>T	noncoding	Benign/Likely_benign
2	178718729	G	A	G178718729A	TTN	NM_001267550.2(TTN):c.24471C>T:p.Gly8157=	coding	Benign/Likely_benign
2	178718769	T	G	T178718769G	TTN	NM_001267550.2(TTN):c.24431A>C:p.Glu8144Ala	coding	Benign/Likely_benign
2	178718855	G	A	G178718855A	TTN	NM_001267550.2(TTN):c.24345C>T:p.Ser8115=	coding	Benign/Likely_benign
2	178718988	G	A	G178718988A	TTN	NM_001267550.2(TTN):c.24227-15C>T	noncoding	Benign/Likely_benign
2	178719195	G	A	G178719195A	TTN	NM_001267550.2(TTN):c.24195C>T:p.Ser8065=	coding	Benign/Likely_benign
2	178719230	T	A	T178719230A	TTN	NM_001267550.2(TTN):c.24160A>T:p.Ile8054Leu	coding	Benign/Likely_benign
2	178719240	G	A	G178719240A	TTN	NM_001267550.2(TTN):c.24150C>T:p.Ser8050=	coding	Benign/Likely_benign
2	178719567	G	A	G178719567A	TTN	NM_001267550.2(TTN):c.23925C>T:p.Ser7975=	coding	Benign/Likely_benign
2	178719639	G	T	G178719639T	TTN	NM_001267550.2(TTN):c.23853C>A:p.Ala7951=	coding	Benign/Likely_benign
2	178720530	G	C	G178720530C	TTN	NM_001267550.2(TTN):c.23232C>G:p.Asn7744Lys	coding	Benign/Likely_benign
2	178720539	C	T	C178720539T	TTN	NM_001267550.2(TTN):c.23223G>A:p.Gln7741=	coding	Benign
2	178720666	A	G	A178720666G	TTN	NM_001267550.2(TTN):c.23099-3T>C	noncoding	Benign
2	178721018	C	T	C178721018T	TTN	NM_001267550.2(TTN):c.23001G>A:p.Thr7667=	coding	Benign/Likely_benign
2	178721877	C	G	C178721877G	TTN	NM_001267550.2(TTN):c.22786G>C:p.Asp7596His	coding	Benign/Likely_benign
2	178721971	T	A	T178721971A	TTN	NM_001267550.2(TTN):c.22692A>T:p.Thr7564=	coding	Benign/Likely_benign
2	178722052	A	G	A178722052G	TTN	NM_001267550.2(TTN):c.22611T>C:p.His7537=	coding	Benign/Likely_benign
2	178722403	C	G	C178722403G	TTN	NM_001267550.2(TTN):c.22384G>C:p.Asp7462His	coding	Benign/Likely_benign
2	178722819	A	G	A178722819G	TTN	NM_001267550.2(TTN):c.22080T>C:p.Asp7360=	coding	Benign
2	178722822	T	A	T178722822A	TTN	NM_001267550.2(TTN):c.22077A>T:p.Gly7359=	coding	Benign/Likely_benign
2	178722825	T	C	T178722825C	TTN	NM_001267550.2(TTN):c.22074A>G:p.Lys7358=	coding	Benign/Likely_benign
2	178722960	T	C	T178722960C	TTN	NM_001267550.2(TTN):c.21962-23A>G	noncoding	Benign
2	178723228	G	T	G178723228T	TTN	NM_001267550.2(TTN):c.21779C>A:p.Ser7260Tyr	coding	Benign/Likely_benign
2	178723611	G	C	G178723611C	TTN	NM_001267550.2(TTN):c.21489C>G:p.Thr7163=	coding	Benign/Likely_benign
2	178724269	C	T	C178724269T	TTN	NM_001267550.2(TTN):c.21106G>A:p.Asp7036Asn	coding	Benign/Likely_benign
2	178724331	G	A	G178724331A	TTN	NM_001267550.2(TTN):c.21044C>T:p.Ala7015Val	coding	Benign
2	178724514	G	A	G178724514A	TTN	NM_001267550.2(TTN):c.20861C>T:p.Ala6954Val	coding	Benign
2	178725350	G	A	G178725350A	TTN	NM_001267550.2(TTN):c.20836+18C>T	noncoding	Benign
2	178725367	C	T	C178725367T	TTN	NM_001267550.2(TTN):c.20836+1G>A	noncoding	Pathogenic
2	178725396	C	T	C178725396T	TTN	NM_001267550.2(TTN):c.20808G>A:p.Arg6936=	coding	Benign/Likely_benign
2	178725432	C	T	C178725432T	TTN	NM_001267550.2(TTN):c.20772G>A:p.Lys6924=	coding	Benign/Likely_benign
2	178725602	C	T	C178725602T	TTN	NM_001267550.2(TTN):c.20602G>A:p.Gly6868Arg	coding	Benign/Likely_benign
2	178726328	A	C	A178726328C	TTN	NM_001267550.2(TTN):c.20276-282T>G	noncoding	Benign
2	178727129	C	T	C178727129T	TTN	NM_001267550.2(TTN):c.20236G>A:p.Ala6746Thr	coding	Benign/Likely_benign
2	178727218	A	T	A178727218T	TTN	NM_001267550.2(TTN):c.20147T>A:p.Met6716Lys	coding	Benign/Likely_benign
2	178727223	G	A	G178727223A	TTN	NM_001267550.2(TTN):c.20142C>T:p.Tyr6714=	coding	Benign/Likely_benign
2	178727340	G	T	G178727340T	TTN	NM_001267550.2(TTN):c.20025C>A:p.Ala6675=	coding	Benign/Likely_benign
2	178727602	G	A	G178727602A	TTN	NM_001267550.2(TTN):c.19976C>T:p.Thr6659Met	coding	Benign/Likely_benign
2	178727760	T	C	T178727760C	TTN	NM_001267550.2(TTN):c.19818A>G:p.Lys6606=	coding	Benign/Likely_benign
2	178727997	A	G	A178727997G	TTN	NM_001267550.2(TTN):c.19714+113T>C	noncoding	Benign
2	178728543	A	G	A178728543G	TTN	NM_001267550.2(TTN):c.19383T>C:p.Asn6461=	coding	Benign/Likely_benign
2	178728625	C	T	C178728625T	TTN	NM_001267550.2(TTN):c.19301G>A:p.Ser6434Asn	coding	Benign/Likely_benign
2	178728722	T	C	T178728722C	TTN	NM_001267550.2(TTN):c.19204A>G:p.Met6402Val	coding	Benign/Likely_benign
2	178728735	C	T	C178728735T	TTN	NM_001267550.2(TTN):c.19191G>A:p.Thr6397=	coding	Benign/Likely_benign
2	178728770	G	A	G178728770A	TTN	NM_001267550.2(TTN):c.19156C>T:p.Gln6386Ter	coding	Pathogenic
2	178729034	T	C	T178729034C	TTN	NM_001267550.2(TTN):c.19004A>G:p.Asp6335Gly	coding	Benign/Likely_benign
2	178729096	G	A	G178729096A	TTN	NM_001267550.2(TTN):c.18942C>T:p.Thr6314=	coding	Benign/Likely_benign
2	178729135	G	A	G178729135A	TTN	NM_001267550.2(TTN):c.18903C>T:p.Thr6301=	coding	Benign
2	178729497	C	G	C178729497G	TTN	NM_001267550.2(TTN):c.18659G>C:p.Cys6220Ser	coding	Benign/Likely_benign
2	178729722	C	G	C178729722G	TTN	NM_001267550.2(TTN):c.18531G>C:p.Val6177=	coding	Benign/Likely_benign
2	178729797	A	G	A178729797G	TTN	NM_001267550.2(TTN):c.18456T>C:p.His6152=	coding	Benign/Likely_benign
2	178729863	T	A	T178729863A	TTN	NM_001267550.2(TTN):c.18390A>T:p.Thr6130=	coding	Benign/Likely_benign
2	178729890	C	T	C178729890T	TTN	NM_001267550.2(TTN):c.18363G>A:p.Gln6121=	coding	Benign/Likely_benign
2	178730325	G	A	G178730325A	TTN	NM_001267550.2(TTN):c.18075C>T:p.Pro6025=	coding	Benign/Likely_benign
2	178730346	T	G	T178730346G	TTN	NM_001267550.2(TTN):c.18054A>C:p.Pro6018=	coding	Benign
2	178730390	C	G	C178730390G	TTN	NM_001267550.2(TTN):c.18029-19G>C	noncoding	Benign
2	178730544	C	T	C178730544T	TTN	NM_001267550.2(TTN):c.17989G>A:p.Ala5997Thr	coding	Benign/Likely_benign
2	178730645	T	C	T178730645C	TTN	NM_001267550.2(TTN):c.17888A>G:p.Glu5963Gly	coding	Benign/Likely_benign
2	178730801	T	C	T178730801C	TTN	NM_001267550.2(TTN):c.17741-9A>G	noncoding	Benign/Likely_benign
2	178731447	G	A	G178731447A	TTN	NM_001267550.2(TTN):c.17319C>T:p.Asp5773=	coding	Benign/Likely_benign
2	178731454	G	C	G178731454C	TTN	NM_001267550.2(TTN):c.17312C>G:p.Thr5771Ser	coding	Benign/Likely_benign
2	178731466	C	T	C178731466T	TTN	NM_001267550.2(TTN):c.17300G>A:p.Ser5767Asn	coding	Benign/Likely_benign
2	178731760	G	A	G178731760A	TTN	NM_001267550.2(TTN):c.17115C>T:p.Gly5705=	coding	Benign/Likely_benign
2	178732430	C	T	C178732430T	TTN	NM_001267550.2(TTN):c.16621+10G>A	noncoding	Benign
2	178732532	T	C	T178732532C	TTN	NM_001267550.2(TTN):c.16529A>G:p.Tyr5510Cys	coding	Benign/Likely_benign
2	178732639	T	C	T178732639C	TTN	NM_001267550.2(TTN):c.16422A>G:p.Gln5474=	coding	Benign/Likely_benign
2	178732686	T	G	T178732686G	TTN	NM_001267550.2(TTN):c.16375A>C:p.Lys5459Gln	coding	Benign
2	178733081	G	A	G178733081A	TTN	NM_001267550.2(TTN):c.16095C>T:p.Asn5365=	coding	Benign/Likely_benign
2	178733130	T	G	T178733130G	TTN	NM_001267550.2(TTN):c.16055-9A>C	noncoding	Benign/Likely_benign
2	178733276	C	T	C178733276T	TTN	NM_001267550.2(TTN):c.16017G>A:p.Val5339=	coding	Benign
2	178733387	G	A	G178733387A	TTN	NM_001267550.2(TTN):c.15906C>T:p.Val5302=	coding	Benign/Likely_benign
2	178733433	G	A	G178733433A	TTN	NM_001267550.2(TTN):c.15860C>T:p.Thr5287Met	coding	Benign/Likely_benign
2	178733443	C	T	C178733443T	TTN	NM_001267550.2(TTN):c.15850G>A:p.Val5284Met	coding	Benign/Likely_benign
2	178733501	A	G	A178733501G	TTN	NM_001267550.2(TTN):c.15792T>C:p.Ile5264=	coding	Benign/Likely_benign
2	178733672	C	T	C178733672T	TTN	NM_001267550.2(TTN):c.15717G>A:p.Thr5239=	coding	Benign/Likely_benign
2	178733805	T	C	T178733805C	TTN	NM_001267550.2(TTN):c.15584A>G:p.Glu5195Gly	coding	Benign/Likely_benign
2	178733828	C	A	C178733828A	TTN	NM_001267550.2(TTN):c.15561G>T:p.Leu5187=	coding	Benign
2	178733828	C	T	C178733828T	TTN	NM_001267550.2(TTN):c.15561G>A:p.Leu5187=	coding	Benign/Likely_benign
2	178733837	G	A	G178733837A	TTN	NM_001267550.2(TTN):c.15552C>T:p.Thr5184=	coding	Benign/Likely_benign
2	178733847	C	G	C178733847G	TTN	NM_001267550.2(TTN):c.15542G>C:p.Gly5181Ala	coding	Benign/Likely_benign
2	178734327	C	T	C178734327T	TTN	NM_001267550.2(TTN):c.15496+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	178734746	C	T	C178734746T	TTN	NM_001267550.2(TTN):c.15178G>A:p.Val5060Ile	coding	Benign/Likely_benign
2	178734908	T	C	T178734908C	TTN	NM_001267550.2(TTN):c.15016A>G:p.Lys5006Glu	coding	Benign
2	178734940	G	C	G178734940C	TTN	NM_001267550.2(TTN):c.14984C>G:p.Pro4995Arg	coding	Benign/Likely_benign
2	178735502	G	A	G178735502A	TTN	NM_001267550.2(TTN):c.14935+9C>T	noncoding	Benign/Likely_benign
2	178735548	A	G	A178735548G	TTN	NM_001267550.2(TTN):c.14898T>C:p.Ala4966=	coding	Benign/Likely_benign
2	178735662	G	T	G178735662T	TTN	NM_001267550.2(TTN):c.14784C>A:p.Leu4928=	coding	Benign/Likely_benign
2	178735681	C	T	C178735681T	TTN	NM_001267550.2(TTN):c.14765G>A:p.Ser4922Asn	coding	Benign/Likely_benign
2	178735836	G	A	G178735836A	TTN	NM_001267550.2(TTN):c.14610C>T:p.Ser4870=	coding	Benign
2	178735921	C	T	C178735921T	TTN	NM_001267550.2(TTN):c.14525G>A:p.Arg4842Lys	coding	Benign/Likely_benign
2	178736330	A	G	A178736330G	TTN	NM_001267550.2(TTN):c.14372-256T>C	noncoding	Benign
2	178738498	G	A	G178738498A	TTN	NM_001267550.2(TTN):c.14093-138C>T	noncoding	Benign
2	178739229	G	A	G178739229A	TTN	NM_001267550.2(TTN):c.14004C>T:p.Thr4668=	coding	Benign/Likely_benign
2	178739257	T	C	T178739257C	TTN	NM_001267550.2(TTN):c.13976A>G:p.Tyr4659Cys	coding	Benign/Likely_benign
2	178739374	C	T	C178739374T	TTN	NM_001267550.2(TTN):c.13859G>A:p.Gly4620Asp	coding	Benign/Likely_benign
2	178739433	T	G	T178739433G	TTN	NM_001267550.2(TTN):c.13800A>C:p.Leu4600Phe	coding	Benign
2	178739527	C	T	C178739527T	TTN	NM_001267550.2(TTN):c.13706G>A:p.Ser4569Asn	coding	Benign
2	178739639	T	G	T178739639G	TTN	NM_001267550.2(TTN):c.13594A>C:p.Thr4532Pro	coding	Benign
2	178739946	A	G	A178739946G	TTN	NM_001267550.2(TTN):c.13287T>C:p.Ala4429=	coding	Benign/Likely_benign
2	178740015	G	A	G178740015A	TTN	NM_001267550.2(TTN):c.13218C>T:p.Ala4406=	coding	Benign
2	178740031	C	T	C178740031T	TTN	NM_001267550.2(TTN):c.13202G>A:p.Arg4401Gln	coding	Benign/Likely_benign
2	178740039	T	C	T178740039C	TTN	NM_001267550.2(TTN):c.13194A>G:p.Gln4398=	coding	Benign/Likely_benign
2	178740125	G	A	G178740125A	TTN	NM_001267550.2(TTN):c.13108C>T:p.Gln4370Ter	coding	Pathogenic
2	178740247	C	T	C178740247T	TTN	NM_001267550.2(TTN):c.12986G>A:p.Arg4329Lys	coding	Benign/Likely_benign
2	178740278	C	T	C178740278T	TTN	NM_001267550.2(TTN):c.12955G>A:p.Ala4319Thr	coding	Benign/Likely_benign
2	178740453	C	A	C178740453A	TTN	NM_001267550.2(TTN):c.12780G>T:p.Ala4260=	coding	Benign
2	178740453	C	T	C178740453T	TTN	NM_001267550.2(TTN):c.12780G>A:p.Ala4260=	coding	Benign
2	178740500	T	G	T178740500G	TTN	NM_001267550.2(TTN):c.12733A>C:p.Asn4245His	coding	Benign/Likely_benign
2	178740653	T	A	T178740653A	TTN	NM_001267550.2(TTN):c.12580A>T:p.Ile4194Phe	coding	Benign/Likely_benign
2	178740978	A	G	A178740978G	TTN	NM_001267550.2(TTN):c.12255T>C:p.Ile4085=	coding	Benign
2	178740998	T	C	T178740998C	TTN	NM_001267550.2(TTN):c.12235A>G:p.Ile4079Val	coding	Benign
2	178741000	G	A	G178741000A	TTN	NM_001267550.2(TTN):c.12233C>T:p.Thr4078Ile	coding	Benign
2	178741116	G	A	G178741116A	TTN	NM_001267550.2(TTN):c.12117C>T:p.Pro4039=	coding	Benign
2	178741209	G	A	G178741209A	TTN	NM_001267550.2(TTN):c.12024C>T:p.Leu4008=	coding	Benign/Likely_benign
2	178741242	A	G	A178741242G	TTN	NM_001267550.2(TTN):c.11991T>C:p.Ile3997=	coding	Benign/Likely_benign
2	178741264	G	A	G178741264A	TTN	NM_001267550.2(TTN):c.11969C>T:p.Pro3990Leu	coding	Benign
2	178741422	A	G	A178741422G	TTN	NM_001267550.2(TTN):c.11811T>C:p.Pro3937=	coding	Benign/Likely_benign
2	178741514	G	C	G178741514C	TTN	NM_001267550.2(TTN):c.11719C>G:p.Leu3907Val	coding	Benign/Likely_benign
2	178741811	G	A	G178741811A	TTN	NM_001267550.2(TTN):c.11422C>T:p.Pro3808Ser	coding	Benign
2	178741863	T	C	T178741863C	TTN	NM_001267550.2(TTN):c.11370A>G:p.Gln3790=	coding	Benign/Likely_benign
2	178745436	A	T	A178745436T	TTN	NM_001267550.2(TTN):c.11312-3515T>A	coding	Benign
2	178745750	A	G	A178745750G	TTN	NM_001267550.2(TTN):c.11312-3829T>C	coding	Benign
2	178745892	C	G	C178745892G	TTN	NM_001267550.2(TTN):c.11312-3971G>C	coding	Benign
2	178745968	C	T	C178745968T	TTN	NM_001267550.2(TTN):c.11312-4047G>A	coding	Benign
2	178746254	A	G	A178746254G	TTN	NM_001267550.2(TTN):c.11312-4333T>C	coding	Benign
2	178746419	C	T	C178746419T	TTN	NM_001267550.2(TTN):c.11312-4498G>A	coding	Benign/Likely_benign
2	178746953	G	A	G178746953A	TTN	NM_001267550.2(TTN):c.11312-5032C>T	coding	Benign
2	178746984	C	A	C178746984A	TTN	NM_001267550.2(TTN):c.11312-5063G>T	coding	Benign
2	178747124	C	T	C178747124T	TTN	NM_001267550.2(TTN):c.11312-5203G>A	coding	Benign
2	178747148	A	G	A178747148G	TTN	NM_001267550.2(TTN):c.11312-5227T>C	coding	Benign
2	178747172	G	T	G178747172T	TTN	NM_001267550.2(TTN):c.11312-5251C>A	coding	Benign
2	178747205	A	G	A178747205G	TTN	NM_001267550.2(TTN):c.11312-5284T>C	coding	Benign
2	178747207	G	A	G178747207A	TTN	NM_001267550.2(TTN):c.11312-5286C>T	coding	Benign/Likely_benign
2	178747580	C	T	C178747580T	TTN	NM_001267550.2(TTN):c.11311+5544G>A	coding	Benign
2	178747646	A	C	A178747646C	TTN	NM_001267550.2(TTN):c.11311+5478T>G	coding	Benign/Likely_benign
2	178747656	C	T	C178747656T	TTN	NM_001267550.2(TTN):c.11311+5468G>A	coding	Benign
2	178747784	G	A	G178747784A	TTN	NM_001267550.2(TTN):c.11311+5340C>T	coding	Benign/Likely_benign
2	178747908	C	T	C178747908T	TTN	NM_001267550.2(TTN):c.11311+5216G>A	coding	Benign/Likely_benign
2	178748156	A	G	A178748156G	TTN	NM_001267550.2(TTN):c.11311+4968T>C	coding	Benign
2	178748186	G	A	G178748186A	TTN	NM_001267550.2(TTN):c.11311+4938C>T	coding	Benign/Likely_benign
2	178748420	G	C	G178748420C	TTN	NM_001267550.2(TTN):c.11311+4704C>G	coding	Benign
2	178748464	T	C	T178748464C	TTN	NM_001267550.2(TTN):c.11311+4660A>G	coding	Benign
2	178748531	A	C	A178748531C	TTN	NM_001267550.2(TTN):c.11311+4593T>G	coding	Benign
2	178748537	C	T	C178748537T	TTN	NM_001267550.2(TTN):c.11311+4587G>A	coding	Benign/Likely_benign
2	178748541	T	G	T178748541G	TTN	NM_001267550.2(TTN):c.11311+4583A>C	coding	Benign/Likely_benign
2	178748767	C	T	C178748767T	TTN	NM_001267550.2(TTN):c.11311+4357G>A	coding	Benign
2	178748786	T	G	T178748786G	TTN	NM_001267550.2(TTN):c.11311+4338A>C	coding	Benign/Likely_benign
2	178748792	G	A	G178748792A	TTN	NM_001267550.2(TTN):c.11311+4332C>T	coding	Benign
2	178748922	T	G	T178748922G	TTN	NM_001267550.2(TTN):c.11311+4202A>C	coding	Benign
2	178748924	G	A	G178748924A	TTN	NM_001267550.2(TTN):c.11311+4200C>T	coding	Benign
2	178748945	A	G	A178748945G	TTN	NM_001267550.2(TTN):c.11311+4179T>C	coding	Benign
2	178749235	C	T	C178749235T	TTN	NM_001267550.2(TTN):c.11311+3889G>A	coding	Benign
2	178749332	T	C	T178749332C	TTN	NM_001267550.2(TTN):c.11311+3792A>G	coding	Benign
2	178749676	T	C	T178749676C	TTN	NM_001267550.2(TTN):c.11311+3448A>G	coding	Benign
2	178750225	A	G	A178750225G	TTN	NM_001267550.2(TTN):c.11311+2899T>C	coding	Benign
2	178750333	C	T	C178750333T	TTN	NM_001267550.2(TTN):c.11311+2791G>A	coding	Benign/Likely_benign
2	178750594	G	T	G178750594T	TTN	NM_001267550.2(TTN):c.11311+2530C>A	coding	Benign
2	178750659	G	C	G178750659C	TTN	NM_001267550.2(TTN):c.11311+2465C>G	coding	Benign/Likely_benign
2	178750808	T	A	T178750808A	TTN	NM_001267550.2(TTN):c.11311+2316A>T	coding	Benign
2	178751160	T	C	T178751160C	TTN	NM_001267550.2(TTN):c.11311+1964A>G	coding	Benign
2	178751204	C	G	C178751204G	TTN	NM_001267550.2(TTN):c.11311+1920G>C	coding	Benign
2	178751267	T	C	T178751267C	TTN	NM_001267550.2(TTN):c.11311+1857A>G	coding	Benign
2	178751394	T	C	T178751394C	TTN	NM_001267550.2(TTN):c.11311+1730A>G	coding	Benign
2	178751480	A	G	A178751480G	TTN	NM_001267550.2(TTN):c.11311+1644T>C	coding	Benign/Likely_benign
2	178751483	G	A	G178751483A	TTN	NM_001267550.2(TTN):c.11311+1641C>T	coding	Benign/Likely_benign
2	178751752	G	A	G178751752A	TTN	NM_001267550.2(TTN):c.11311+1372C>T	coding	Benign/Likely_benign
2	178751783	A	G	A178751783G	TTN	NM_001267550.2(TTN):c.11311+1341T>C	coding	Benign/Likely_benign
2	178752840	C	T	C178752840T	TTN	NM_001267550.2(TTN):c.11311+284G>A	noncoding	Benign
2	178756224	C	T	C178756224T	TTN	NM_001267550.2(TTN):c.11252G>A:p.Gly3751Asp	coding	Benign
2	178756457	G	A	G178756457A	TTN	NM_001267550.2(TTN):c.11019C>T:p.Cys3673=	coding	Benign
2	178756545	C	T	C178756545T	TTN	NM_001267550.2(TTN):c.10931G>A:p.Ser3644Asn	coding	Benign/Likely_benign
2	178756622	T	G	T178756622G	TTN	NM_001267550.2(TTN):c.10854A>C:p.Gln3618His	coding	Benign
2	178756626	G	A	G178756626A	TTN	NM_001267550.2(TTN):c.10850C>T:p.Ser3617Phe	coding	Benign
2	178756750	T	C	T178756750C	TTN	NM_001267550.2(TTN):c.10726A>G:p.Thr3576Ala	coding	Benign/Likely_benign
2	178756776	C	T	C178756776T	TTN	NM_001267550.2(TTN):c.10700G>A:p.Ser3567Asn	coding	Benign
2	178757612	C	T	C178757612T	TTN	NM_001267550.2(TTN):c.10608G>A:p.Gln3536=	coding	Benign
2	178757842	G	C	G178757842C	TTN	NM_001267550.2(TTN):c.10378C>G:p.Pro3460Ala	coding	Benign/Likely_benign
2	178758078	A	G	A178758078G	TTN	NM_001267550.2(TTN):c.10304-162T>C	noncoding	Benign
2	178758850	G	T	G178758850T	TTN	NM_001267550.2(TTN):c.10303+134C>A	noncoding	Benign
2	178759031	C	T	C178759031T	TTN	NM_001267550.2(TTN):c.10256G>A:p.Ser3419Asn	coding	Benign
2	178764191	C	T	C178764191T	TTN	NM_001267550.2(TTN):c.10100G>A:p.Arg3367Gln	coding	Benign/Likely_benign
2	178764636	T	C	T178764636C	TTN	NM_001267550.2(TTN):c.9879A>G:p.Glu3293=	coding	Benign
2	178764726	G	A	G178764726A	TTN	NM_001267550.2(TTN):c.9789C>T:p.Ser3263=	coding	Benign/Likely_benign
2	178764734	C	T	C178764734T	TTN	NM_001267550.2(TTN):c.9781G>A:p.Val3261Met	coding	Benign
2	178766364	A	T	A178766364T	TTN	NM_001267550.2(TTN):c.9703+17T>A	noncoding	Benign
2	178766487	T	C	T178766487C	TTN	NM_001267550.2(TTN):c.9597A>G:p.Glu3199=	coding	Benign
2	178766565	G	A	G178766565A	TTN	NM_001267550.2(TTN):c.9519C>T:p.Asp3173=	coding	Benign/Likely_benign
2	178766635	A	C	A178766635C	TTN	NM_001267550.2(TTN):c.9472-23T>G	noncoding	Benign
2	178767769	T	C	T178767769C	TTN	NM_001267550.2(TTN):c.9461A>G:p.Lys3154Arg	coding	Benign/Likely_benign
2	178768363	A	G	A178768363G	TTN	NM_001267550.2(TTN):c.9164-208T>C	noncoding	Benign
2	178768460	T	C	T178768460C	TTN	NM_001267550.2(TTN):c.9163+213A>G	noncoding	Benign
2	178768550	C	T	C178768550T	TTN	NM_001267550.2(TTN):c.9163+123G>A	noncoding	Benign
2	178768686	T	C	T178768686C	TTN	NM_001267550.2(TTN):c.9150A>G:p.Thr3050=	coding	Benign/Likely_benign
2	178768917	G	C	G178768917C	TTN	NM_001267550.2(TTN):c.8919C>G:p.Ser2973=	coding	Benign
2	178769663	A	T	A178769663T	TTN	NM_001267550.2(TTN):c.8902+16T>A	noncoding	Benign
2	178769694	T	G	T178769694G	TTN	NM_001267550.2(TTN):c.8887A>C:p.Thr2963Pro	coding	Benign
2	178770209	C	T	C178770209T	TTN	NM_001267550.2(TTN):c.8492G>A:p.Ser2831Asn	coding	Benign/Likely_benign
2	178770234	C	A	C178770234A	TTN	NM_001267550.2(TTN):c.8467G>T:p.Val2823Phe	coding	Benign/Likely_benign
2	178771123	T	C	T178771123C	TTN	NM_001267550.2(TTN):c.8116+88A>G	noncoding	Benign
2	178771192	C	T	C178771192T	TTN	NM_001267550.2(TTN):c.8116+19G>A	noncoding	Benign
2	178771530	T	A	T178771530A	TTN	NM_001267550.2(TTN):c.7856-59A>T	noncoding	Benign
2	178773134	C	G	C178773134G	TTN	NM_001267550.2(TTN):c.7830G>C:p.Met2610Ile	coding	Benign/Likely_benign
2	178773224	A	C	A178773224C	TTN	NM_001267550.2(TTN):c.7740T>G:p.Ile2580Met	coding	Benign/Likely_benign
2	178773511	G	A	G178773511A	TTN	NM_001267550.2(TTN):c.7545C>T:p.Tyr2515=	coding	Benign/Likely_benign
2	178773526	T	C	T178773526C	TTN	NM_001267550.2(TTN):c.7530A>G:p.Ser2510=	coding	Benign/Likely_benign
2	178773994	C	T	C178773994T	TTN	NM_001267550.2(TTN):c.7174G>A:p.Gly2392Ser	coding	Benign/Likely_benign
2	178774241	G	A	G178774241A	TTN	NM_001267550.2(TTN):c.7023C>T:p.Asp2341=	coding	Benign/Likely_benign
2	178774984	C	A	C178774984A	TTN	NM_001267550.2(TTN):c.6727G>T:p.Asp2243Tyr	coding	Benign/Likely_benign
2	178775511	A	G	A178775511G	TTN	NM_001267550.2(TTN):c.6353T>C:p.Ile2118Thr	coding	Benign/Likely_benign
2	178775702	G	A	G178775702A	TTN	NM_001267550.2(TTN):c.6162C>T:p.Ala2054=	coding	Benign/Likely_benign
2	178775823	G	A	G178775823A	TTN	NM_001267550.2(TTN):c.6041C>T:p.Thr2014Ile	coding	Benign
2	178775989	A	T	A178775989T	TTN	NM_001267550.2(TTN):c.5875T>A:p.Phe1959Ile	coding	Benign
2	178776167	G	A	G178776167A	TTN	NM_001267550.2(TTN):c.5697C>T:p.Ile1899=	coding	Benign/Likely_benign
2	178776476	A	G	A178776476G	TTN	NM_001267550.2(TTN):c.5388T>C:p.Asp1796=	coding	Benign
2	178776633	G	A	G178776633A	TTN	NM_001267550.2(TTN):c.5231C>T:p.Pro1744Leu	coding	Benign/Likely_benign
2	178776866	T	A	T178776866A	TTN	NM_001267550.2(TTN):c.4998A>T:p.Thr1666=	coding	Benign
2	178777224	G	A	G178777224A	TTN	NM_001267550.2(TTN):c.4739C>T:p.Thr1580Met	coding	Benign/Likely_benign
2	178777248	C	T	C178777248T	TTN	NM_001267550.2(TTN):c.4715G>A:p.Arg1572Gln	coding	Benign/Likely_benign
2	178777292	C	T	C178777292T	TTN	NM_001267550.2(TTN):c.4671G>A:p.Met1557Ile	coding	Benign/Likely_benign
2	178777412	C	A	C178777412A	TTN	NM_001267550.2(TTN):c.4645+8G>T	coding	Benign/Likely_benign
2	178777435	T	C	T178777435C	TTN	NM_001267550.2(TTN):c.4630A>G:p.Ile1544Val	coding	Benign/Likely_benign
2	178777698	G	A	G178777698A	TTN	NM_001267550.2(TTN):c.4480+6C>T	coding	Benign
2	178777837	T	C	T178777837C	TTN	NM_001267550.2(TTN):c.4347A>G:p.Ser1449=	coding	Benign/Likely_benign
2	178777856	A	G	A178777856G	TTN	NM_001267550.2(TTN):c.4328T>C:p.Leu1443Pro	coding	Benign/Likely_benign
2	178777862	C	G	C178777862G	TTN	NM_001267550.2(TTN):c.4322G>C:p.Arg1441Pro	coding	Benign/Likely_benign
2	178777938	G	A	G178777938A	TTN	NM_001267550.2(TTN):c.4246C>T:p.Arg1416Cys	coding	Benign/Likely_benign
2	178778155	T	C	T178778155C	TTN	NM_001267550.2(TTN):c.4209-180A>G	coding	Benign
2	178778818	T	C	T178778818C	TTN	NM_001267550.2(TTN):c.4208+56A>G	noncoding	Benign
2	178778905	T	C	T178778905C	TTN	NM_001267550.2(TTN):c.4177A>G:p.Ile1393Val	coding	Benign/Likely_benign
2	178779089	G	A	G178779089A	TTN	NM_001267550.2(TTN):c.3993C>T:p.Ile1331=	coding	Benign/Likely_benign
2	178779308	G	A	G178779308A	TTN	NM_001267550.2(TTN):c.3884C>T:p.Ser1295Leu	coding	Benign
2	178779433	T	C	T178779433C	TTN	NM_001267550.2(TTN):c.3759A>G:p.Arg1253=	coding	Benign
2	178779700	C	T	C178779700T	TTN	NM_001267550.2(TTN):c.3730-238G>A	noncoding	Benign
2	178780061	G	A	G178780061A	TTN	NM_001267550.2(TTN):c.3668C>T:p.Ala1223Val	coding	Benign/Likely_benign
2	178780128	T	C	T178780128C	TTN	NM_001267550.2(TTN):c.3601A>G:p.Lys1201Glu	coding	Benign
2	178780850	C	T	C178780850T	TTN	NM_001267550.2(TTN):c.3523+271G>A	noncoding	Benign
2	178781004	C	A	C178781004A	TTN	NM_001267550.2(TTN):c.3523+117G>T	noncoding	Benign
2	178782349	C	T	C178782349T	TTN	NM_001267550.2(TTN):c.3243G>A:p.Ala1081=	coding	Benign
2	178782819	A	G	A178782819G	TTN	NM_001267550.2(TTN):c.3087T>C:p.Tyr1029=	coding	Benign
2	178782957	G	A	G178782957A	TTN	NM_001267550.2(TTN):c.2949C>T:p.Ile983=	coding	Benign/Likely_benign
2	178783097	G	A	G178783097A	TTN	NM_001267550.2(TTN):c.2842-33C>T	noncoding	Benign
2	178783780	T	G	T178783780G	TTN	NM_001267550.2(TTN):c.2781A>C:p.Thr927=	coding	Benign/Likely_benign
2	178784052	G	A	G178784052A	TTN	NM_001267550.2(TTN):c.2775+18C>T	noncoding	Benign
2	178784066	C	T	C178784066T	TTN	NM_001267550.2(TTN):c.2775+4G>A	noncoding	Benign/Likely_benign
2	178784115	G	A	G178784115A	TTN	NM_001267550.2(TTN):c.2730C>T:p.Thr910=	coding	Benign/Likely_benign
2	178784622	G	A	G178784622A	TTN	NM_001267550.2(TTN):c.2494-271C>T	noncoding	Benign
2	178785668	G	A	G178785668A	TTN	NM_001267550.2(TTN):c.2445C>T:p.His815=	coding	Benign
2	178785681	G	A	G178785681A	TTN	NM_001267550.2(TTN):c.2432C>T:p.Thr811Ile	coding	Benign/Likely_benign
2	178785846	A	G	A178785846G	TTN	NM_001267550.2(TTN):c.2370+2T>C	noncoding	Pathogenic
2	178785938	G	A	G178785938A	TTN	NM_001267550.2(TTN):c.2280C>T:p.Val760=	coding	Benign/Likely_benign
2	178785948	G	A	G178785948A	TTN	NM_001267550.2(TTN):c.2270C>T:p.Pro757Leu	coding	Benign/Likely_benign
2	178785974	C	T	C178785974T	TTN	NM_001267550.2(TTN):c.2244G>A:p.Glu748=	coding	Benign
2	178785990	G	A	G178785990A	TTN	NM_001267550.2(TTN):c.2228C>T:p.Ala743Val	coding	Pathogenic
2	178785992	G	T	G178785992T	TTN	NM_001267550.2(TTN):c.2226C>A:p.Ser742=	coding	Benign/Likely_benign
2	178785999	C	A	C178785999A	TTN	NM_001267550.2(TTN):c.2219G>T:p.Arg740Leu	coding	Pathogenic
2	178786067	G	A	G178786067A	TTN	NM_001267550.2(TTN):c.2151C>T:p.Pro717=	coding	Benign/Likely_benign
2	178786227	G	A	G178786227A	TTN	NM_001267550.2(TTN):c.2077-86C>T	noncoding	Benign
2	178789586	A	G	A178789586G	TTN	NM_001267550.2(TTN):c.1939-89T>C	noncoding	Benign
2	178789968	C	G	C178789968G	TTN	NM_001267550.2(TTN):c.1938+10G>C	noncoding	Benign/Likely_benign
2	178790737	G	A	G178790737A	TTN	NM_001267550.2(TTN):c.1771C>T:p.Gln591Ter	coding	Pathogenic
2	178790897	T	C	T178790897C	TTN	NM_001267550.2(TTN):c.1663-52A>G	noncoding	Benign
2	178791755	G	A	G178791755A	TTN	NM_001267550.2(TTN):c.1662+317C>T	noncoding	Benign
2	178791952	T	C	T178791952C	TTN	NM_001267550.2(TTN):c.1662+120A>G	noncoding	Benign
2	178792201	C	T	C178792201T	TTN	NM_001267550.2(TTN):c.1537-4G>A	noncoding	Benign/Likely_benign
2	178793448	C	T	C178793448T	TTN	NM_001267550.2(TTN):c.1492G>A:p.Val498Ile	coding	Benign/Likely_benign
2	178794381	T	C	T178794381C	TTN	NM_001267550.2(TTN):c.1398+18A>G	noncoding	Benign
2	178794383	G	A	G178794383A	TTN	NM_001267550.2(TTN):c.1398+16C>T	noncoding	Benign
2	178794391	G	A	G178794391A	TTN	NM_001267550.2(TTN):c.1398+8C>T	noncoding	Benign/Likely_benign
2	178794567	C	T	C178794567T	TTN	NM_001267550.2(TTN):c.1246-16G>A	noncoding	Benign
2	178794946	C	T	C178794946T	TTN	NM_001267550.2(TTN):c.1221G>A:p.Glu407=	coding	Benign
2	178795088	C	G	C178795088G	TTN	NM_001267550.2(TTN):c.1079G>C:p.Arg360Thr	coding	Benign/Likely_benign
2	178795164	C	T	C178795164T	TTN	NM_001267550.2(TTN):c.1003G>A:p.Val335Met	coding	Benign/Likely_benign
2	178795185	G	A	G178795185A	TTN	NM_001267550.2(TTN):c.982C>T:p.Arg328Cys	coding	Benign/Likely_benign
2	178795197	G	A	G178795197A	TTN	NM_001267550.2(TTN):c.970C>T:p.Pro324Ser	coding	Benign/Likely_benign
2	178799824	C	T	C178799824T	TTN	NM_001267550.2(TTN):c.669+1G>A	noncoding	Pathogenic
2	178800417	C	T	C178800417T	TTN	NM_001267550.2(TTN):c.561G>A:p.Ser187=	coding	Benign/Likely_benign
2	178800436	C	T	C178800436T	TTN	NM_001267550.2(TTN):c.542G>A:p.Ser181Asn	coding	Benign/Likely_benign
2	178800552	G	A	G178800552A	TTN	NM_001267550.2(TTN):c.426C>T:p.Ala142=	coding	Benign/Likely_benign
2	178802144	C	T	C178802144T	TTN	NM_001267550.2(TTN):c.289G>A:p.Val97Met	coding	Benign/Likely_benign
2	178802255	C	A	C178802255A	TTN	NM_001267550.2(TTN):c.178G>T:p.Asp60Tyr	coding	Benign/Likely_benign
2	178802256	G	A	G178802256A	TTN	NM_001267550.2(TTN):c.177C>T:p.Ser59=	coding	Benign/Likely_benign
2	178802363	C	T	C178802363T	TTN	NM_001267550.2(TTN):c.92-22G>A	noncoding	Benign
2	178807306	C	T	C178807306T	TTN	NM_001267550.2(TTN):c.-108G>A	noncoding	Benign/Likely_benign
2	178850169	G	A	G178850169A	CCDC141	NM_173648.4(CCDC141):c.3245-8C>T	noncoding	Benign
2	178884953	T	C	T178884953C	CCDC141	NM_173648.4(CCDC141):c.1667A>G:p.Tyr556Cys	coding	Benign
2	178888532	G	A	G178888532A	CCDC141	NM_173648.4(CCDC141):c.1402C>T:p.Arg468Trp	coding	Benign
2	178944651	C	G	C178944651G	CCDC141	NM_173648.4(CCDC141):c.781G>C:p.Val261Leu	coding	Benign
2	179116713	C	T	C179116713T	SESTD1	NM_178123.5(SESTD1):c.1602G>A:p.Thr534=	coding	Benign
2	179121862	G	C	G179121862C	SESTD1	NM_178123.5(SESTD1):c.1350C>G:p.Ser450=	coding	Benign
2	179443283	G	A	G179443283A	ZNF385B	NM_152520.6(ZNF385B):c.1428C>T:p.Ala476=	coding	Benign
2	179444981	A	G	A179444981G	ZNF385B	NM_152520.6(ZNF385B):c.1141-4T>C	noncoding	Benign
2	179769508	C	A	C179769508A	ZNF385B	NM_152520.6(ZNF385B):c.293G>T:p.Ser98Ile	coding	Benign
2	179769594	G	A	G179769594A	ZNF385B	NM_152520.6(ZNF385B):c.207C>T:p.Asn69=	coding	Benign
2	179769705	G	A	G179769705A	ZNF385B	NM_152520.6(ZNF385B):c.96C>T:p.Asn32=	coding	Benign
2	179945634	T	A	T179945634A	CWC22	NM_020943.3(CWC22):c.2222A>T:p.Asp741Val	coding	Benign
2	179970702	T	C	T179970702C	CWC22	NM_020943.3(CWC22):c.1095A>G:p.Gln365=	coding	Benign
2	181480276	A	C	A181480276C	ITGA4	NM_000885.6(ITGA4):c.754+10A>C	noncoding	Benign
2	181485875	A	G	A181485875G	ITGA4	NM_000885.6(ITGA4):c.1042-6A>G	noncoding	Benign
2	181494819	A	G	A181494819G	ITGA4	NM_000885.6(ITGA4):c.1339+7A>G	noncoding	Benign
2	181509795	A	C	A181509795C	ITGA4	NM_000885.6(ITGA4):c.1833A>C:p.Ile611=	coding	Benign
2	181511753	T	A	T181511753A	ITGA4	NM_000885.6(ITGA4):c.1900T>A:p.Ser634Thr	coding	Benign
2	181522305	A	C	A181522305C	ITGA4	NM_000885.6(ITGA4):c.2037A>C:p.Leu679=	coding	Benign
2	181524215	G	A	G181524215A	ITGA4	NM_000885.6(ITGA4):c.2214G>A:p.Ala738=	coding	Benign
2	181530514	G	T	G181530514T	ITGA4	NM_000885.6(ITGA4):c.2539-10G>T	noncoding	Benign
2	181536839	C	T	C181536839T	CERKL	NM_201548.5(CERKL):c.*1345G>A	noncoding	Benign
2	181537025	G	A	G181537025A	CERKL	NM_201548.5(CERKL):c.*1159C>T	noncoding	Benign
2	181537230	G	T	G181537230T	CERKL	NM_201548.5(CERKL):c.*954C>A	noncoding	Benign
2	181537304	C	T	C181537304T	CERKL	NM_201548.5(CERKL):c.*880G>A	noncoding	Benign
2	181537764	C	T	C181537764T	CERKL	NM_201548.5(CERKL):c.*420G>A	noncoding	Benign
2	181537837	T	C	T181537837C	CERKL	NM_201548.5(CERKL):c.*347A>G	noncoding	Benign
2	181539124	G	A	G181539124A	CERKL	NM_201548.5(CERKL):c.1506C>T:p.Asp502=	coding	Benign
2	181539167	T	C	T181539167C	CERKL	NM_201548.5(CERKL):c.1463A>G:p.Glu488Gly	coding	Benign
2	181539168	C	A	C181539168A	CERKL	NM_201548.5(CERKL):c.1462G>T:p.Glu488Ter	coding	Pathogenic
2	181544702	G	A	G181544702A	CERKL	NM_201548.5(CERKL):c.1363C>T:p.Gln455Ter	coding	Pathogenic
2	181544718	A	T	A181544718T	CERKL	NM_201548.5(CERKL):c.1347T>A:p.Tyr449Ter	coding	Pathogenic
2	181548532	A	G	A181548532G	CERKL	NM_201548.5(CERKL):c.1133+13T>C	noncoding	Benign
2	181548741	G	A	G181548741A	CERKL	NM_201548.5(CERKL):c.1012C>T:p.Arg338Ter	coding	Pathogenic
2	181548832	G	T	G181548832T	CERKL	NM_201548.5(CERKL):c.921C>A:p.Cys307Ter	coding	Pathogenic
2	181548875	A	T	A181548875T	CERKL	NM_201548.5(CERKL):c.896-18T>A	noncoding	Benign
2	181549631	T	C	T181549631C	CERKL	NM_201548.5(CERKL):c.895+3A>G	noncoding	Benign
2	181558574	A	G	A181558574G	CERKL	NM_201548.5(CERKL):c.812T>C:p.Ile271Thr	coding	Pathogenic/Likely_pathogenic
2	181558617	G	A	G181558617A	CERKL	NM_201548.5(CERKL):c.769C>T:p.Arg257Ter	coding	Pathogenic
2	181558626	C	A	C181558626A	CERKL	NM_201548.5(CERKL):c.760G>T:p.Glu254Ter	coding	Pathogenic
2	181558652	A	G	A181558652G	CERKL	NM_201548.5(CERKL):c.734T>C:p.Leu245Pro	coding	Pathogenic
2	181558709	C	T	C181558709T	CERKL	NM_201548.5(CERKL):c.678-1G>A	coding	Pathogenic
2	181565477	C	T	C181565477T	CERKL	NM_201548.5(CERKL):c.677+581G>A	coding	Pathogenic
2	181565480	A	G	A181565480G	CERKL	NM_201548.5(CERKL):c.677+578T>C	coding	Benign
2	181565492	C	A	C181565492A	CERKL	NM_201548.5(CERKL):c.677+566G>T	coding	Benign
2	181573768	T	A	T181573768A	CERKL	NM_201548.5(CERKL):c.598A>T:p.Lys200Ter	coding	Pathogenic
2	181603943	G	C	G181603943C	CERKL	NM_201548.5(CERKL):c.375C>G:p.Cys125Trp	coding	Pathogenic/Likely_pathogenic
2	181603984	G	A	G181603984A	CERKL	NM_201548.5(CERKL):c.334C>T:p.Gln112Ter	coding	Pathogenic
2	181604020	A	C	A181604020C	CERKL	NM_201548.5(CERKL):c.298T>G:p.Ser100Ala	coding	Benign
2	181604076	T	G	T181604076G	CERKL	NM_201548.5(CERKL):c.242A>C:p.Asp81Ala	coding	Benign
2	181604091	A	T	A181604091T	CERKL	NM_201548.5(CERKL):c.239-12T>A	noncoding	Benign
2	181656768	C	T	C181656768T	CERKL	NM_201548.5(CERKL):c.238+1G>A	noncoding	Pathogenic
2	181656808	C	T	C181656808T	CERKL	NM_201548.5(CERKL):c.199G>A:p.Ala67Thr	coding	Benign/Likely_benign
2	181656851	G	A	G181656851A	CERKL	NM_201548.5(CERKL):c.156C>T:p.Phe52=	coding	Benign
2	181656909	A	C	A181656909C	CERKL	NM_201548.5(CERKL):c.98T>G:p.Leu33Ter	coding	Pathogenic/Likely_pathogenic
2	181676195	C	T	C181676195T	NEUROD1	NM_002500.4(NEUROD1):c.*1595G>A	noncoding	Benign
2	181676451	A	G	A181676451G	NEUROD1	NM_002500.4(NEUROD1):c.*1339T>C	noncoding	Benign
2	181676757	A	C	A181676757C	NEUROD1	NM_002500.4(NEUROD1):c.*1033T>G	noncoding	Benign
2	181677784	G	T	G181677784T	NEUROD1	NM_002500.5(NEUROD1):c.*6C>A	noncoding	Benign
2	181678271	G	T	G181678271T	NEUROD1	NM_002500.4(NEUROD1):c.590C>A:p.Pro197His	coding	Benign
2	181678529	C	A	C181678529A	NEUROD1	NM_002500.4(NEUROD1):c.332G>T:p.Arg111Leu	coding	Pathogenic
2	181678552	G	C	G181678552C	NEUROD1	NM_002500.4(NEUROD1):c.309C>G:p.Arg103=	coding	Pathogenic
2	181678728	T	C	T181678728C	NEUROD1	NM_002500.4(NEUROD1):c.133=:p.Ala45=	coding	Benign
2	181678732	G	T	G181678732T	NEUROD1	NM_002500.4(NEUROD1):c.129C>A:p.Leu43=	coding	Benign
2	181678827	C	G	C181678827G	NEUROD1	NM_002500.5(NEUROD1):c.34G>C:p.Gly12Arg	coding	Benign
2	181680483	G	A	G181680483A	NEUROD1	NM_002500.4(NEUROD1):c.-65C>T	noncoding	Benign
2	181680491	C	T	C181680491T	NEUROD1	NM_002500.4(NEUROD1):c.-73G>A	noncoding	Benign
2	182834921	A	G	A182834921G	FRZB	NM_001463.4(FRZB):c.906T>C:p.Asp302=	coding	Benign
2	182834955	A	G	A182834955G	FRZB	NM_001463.4(FRZB):c.872T>C:p.Met291Thr	coding	Benign
2	184866467	G	A	G184866467A	ZNF804A	NM_194250.2(ZNF804A):c.210G>A:p.Gln70=	coding	Benign
2	184936584	C	T	C184936584T	ZNF804A	NM_194250.2(ZNF804A):c.1188C>T:p.Pro396=	coding	Benign
2	184936869	C	T	C184936869T	ZNF804A	NM_194250.2(ZNF804A):c.1473C>T:p.Asp491=	coding	Benign
2	184937029	G	A	G184937029A	ZNF804A	NM_194250.2(ZNF804A):c.1633G>A:p.Gly545Ser	coding	Benign
2	184938405	A	T	A184938405T	ZNF804A	NM_194250.2(ZNF804A):c.3009A>T:p.Pro1003=	coding	Benign
2	184938753	A	G	A184938753G	ZNF804A	NM_194250.2(ZNF804A):c.3357A>G:p.Ala1119=	coding	Benign
2	185796083	G	A	G185796083A	FSIP2	NM_173651.4(FSIP2):c.8947G>A:p.Gly2983Ser	coding	Benign
2	185807090	T	C	T185807090C	FSIP2	NM_173651.4(FSIP2):c.17784T>C:p.Tyr5928=	coding	Benign
2	186625505	G	A	G186625505A	ITGAV	NM_002210.5(ITGAV):c.441G>A:p.Glu147=	coding	Benign
2	186636125	C	T	C186636125T	ITGAV	NM_002210.5(ITGAV):c.675C>T:p.Tyr225=	coding	Benign
2	186640975	T	A	T186640975A	ITGAV	NM_002210.5(ITGAV):c.956+8T>A	noncoding	Benign
2	186656392	G	A	G186656392A	ITGAV	NM_002210.5(ITGAV):c.1710G>A:p.Ala570=	coding	Benign
2	186676848	G	A	G186676848A	ITGAV	NM_002210.5(ITGAV):c.2964G>A:p.Ala988=	coding	Benign
2	186694320	G	A	G186694320A	FAM171B	NM_177454.4(FAM171B):c.147G>A:p.Gln49=	coding	Benign
2	186740273	G	A	G186740273A	FAM171B	NM_177454.4(FAM171B):c.284G>A:p.Arg95His	coding	Benign
2	186740319	G	A	G186740319A	FAM171B	NM_177454.4(FAM171B):c.330G>A:p.Thr110=	coding	Benign
2	186751157	C	T	C186751157T	FAM171B	NM_177454.4(FAM171B):c.748C>T:p.Pro250Ser	coding	Benign
2	186761905	G	A	G186761905A	FAM171B	NM_177454.4(FAM171B):c.1563G>A:p.Ala521=	coding	Benign
2	186762814	C	T	C186762814T	FAM171B	NM_177454.4(FAM171B):c.2472C>T:p.Pro824=	coding	Benign
2	186833202	T	C	T186833202C	ZSWIM2	NM_182521.3(ZSWIM2):c.859A>G:p.Lys287Glu	coding	Benign
2	187346278	C	A	C187346278A	CALCRL	NM_005795.6(CALCRL):c.1292G>T:p.Gly431Val	coding	Benign
2	187360602	G	A	G187360602A	CALCRL	NM_005795.6(CALCRL):c.777C>T:p.Gly259=	coding	Benign
2	187484116	A	G	A187484116G	TFPI	NM_006287.6(TFPI):c.628+8T>C	noncoding	Benign
2	187484906	G	T	G187484906T	TFPI	NM_006287.6(TFPI):c.440C>A:p.Thr147Lys	coding	Benign
2	187496871	A	G	A187496871G	TFPI	NM_006287.6(TFPI):c.319+10T>C	noncoding	Benign
2	188974372	T	G	T188974372G	COL3A1	NC_000002.12:g.188974372T>G	noncoding	Benign
2	188974410	G	A	G188974410A	COL3A1	NM_000090.3(COL3A1):c.-80G>A	noncoding	Benign
2	188974519	G	A	G188974519A	COL3A1	NM_000090.3(COL3A1):c.30G>A:p.Trp10Ter	coding	Pathogenic
2	188974772	T	C	T188974772C	COL3A1	NM_000090.3(COL3A1):c.79+204T>C	noncoding	Benign
2	188984744	C	T	C188984744T	COL3A1	NM_000090.3(COL3A1):c.80-16C>T	noncoding	Benign
2	188984747	A	C	A188984747C	COL3A1	NM_000090.3(COL3A1):c.80-13A>C	noncoding	Benign/Likely_benign
2	188984794	C	G	C188984794G	COL3A1	NM_000090.3(COL3A1):c.114C>G:p.Ser38=	coding	Benign/Likely_benign
2	188984814	G	A	G188984814A	COL3A1	NM_000090.3(COL3A1):c.134G>A:p.Trp45Ter	coding	Pathogenic
2	188985047	A	G	A188985047G	COL3A1	NM_000090.3(COL3A1):c.282+85A>G	noncoding	Benign
2	188985737	G	C	G188985737C	COL3A1	NM_000090.3(COL3A1):c.406G>C:p.Gly136Arg	coding	Pathogenic
2	188985968	T	C	T188985968C	COL3A1	NM_000090.3(COL3A1):c.447+190T>C	noncoding	Benign
2	188987389	T	A	T188987389A	COL3A1	NM_000090.3(COL3A1):c.528+250T>A	noncoding	Benign
2	188988091	G	A	G188988091A	COL3A1	NM_000090.3(COL3A1):c.539G>A:p.Gly180Asp	coding	Pathogenic
2	188988099	G	A	G188988099A	COL3A1	NM_000090.3(COL3A1):c.547G>A:p.Gly183Ser	coding	Pathogenic
2	188988099	G	C	G188988099C	COL3A1	NM_000090.3(COL3A1):c.547G>C:p.Gly183Arg	coding	Pathogenic
2	188988099	G	T	G188988099T	COL3A1	NM_000090.3(COL3A1):c.547G>T:p.Gly183Cys	coding	Pathogenic
2	188988100	G	A	G188988100A	COL3A1	NM_000090.3(COL3A1):c.548G>A:p.Gly183Asp	coding	Pathogenic
2	188988100	G	C	G188988100C	COL3A1	NM_000090.3(COL3A1):c.548G>C:p.Gly183Ala	coding	Pathogenic
2	188988108	G	A	G188988108A	COL3A1	NM_000090.3(COL3A1):c.556G>A:p.Gly186Ser	coding	Pathogenic
2	188988117	G	C	G188988117C	COL3A1	NM_000090.3(COL3A1):c.565G>C:p.Gly189Arg	coding	Pathogenic
2	188988127	G	T	G188988127T	COL3A1	NM_000090.3(COL3A1):c.575G>T:p.Gly192Val	coding	Pathogenic
2	188988135	G	C	G188988135C	COL3A1	NM_000090.3(COL3A1):c.582+1G>C:p.Gly177_Pro194del	coding	Pathogenic
2	188988139	G	A	G188988139A	COL3A1	NM_000090.3(COL3A1):c.582+5G>A:p.Gly177_Pro194del	noncoding	Pathogenic/Likely_pathogenic
2	188988139	G	T	G188988139T	COL3A1	NM_000090.3(COL3A1):c.582+5G>T:p.Gly177_Pro194del	noncoding	Pathogenic
2	188988140	T	A	T188988140A	COL3A1	NM_000090.3(COL3A1):c.582+6T>A:p.Gly177_Pro194del	noncoding	Pathogenic
2	188988140	T	C	T188988140C	COL3A1	NM_000090.3(COL3A1):c.582+6T>C	noncoding	Pathogenic
2	188988582	C	T	C188988582T	COL3A1	NM_000090.3(COL3A1):c.583-8C>T	noncoding	Benign
2	188988590	G	C	G188988590C	COL3A1	NM_000090.3(COL3A1):c.583G>C:p.Gly195Arg	coding	Pathogenic
2	188988599	G	A	G188988599A	COL3A1	NM_000090.3(COL3A1):c.592G>A:p.Gly198Arg	coding	Pathogenic
2	188988608	G	C	G188988608C	COL3A1	NM_000090.3(COL3A1):c.601G>C:p.Gly201Arg	coding	Pathogenic
2	188988617	G	A	G188988617A	COL3A1	NM_000090.3(COL3A1):c.610G>A:p.Gly204Ser	coding	Pathogenic
2	188988618	G	A	G188988618A	COL3A1	NM_000090.3(COL3A1):c.611G>A:p.Gly204Asp	coding	Pathogenic
2	188988626	G	T	G188988626T	COL3A1	NM_000090.3(COL3A1):c.619G>T:p.Gly207Trp	coding	Pathogenic
2	188988627	G	T	G188988627T	COL3A1	NM_000090.3(COL3A1):c.620G>T:p.Gly207Val	coding	Pathogenic
2	188988636	G	T	G188988636T	COL3A1	NM_000090.3(COL3A1):c.629G>T:p.Gly210Val	coding	Pathogenic
2	188988644	G	A	G188988644A	COL3A1	NM_000090.3(COL3A1):c.636+1G>A:p.Gly195_Ser212del	coding	Pathogenic
2	188988648	G	A	G188988648A	COL3A1	NM_000090.3(COL3A1):c.636+5G>A:p.Gly195_Ser212del	noncoding	Pathogenic
2	188989153	G	A	G188989153A	COL3A1	NM_000090.3(COL3A1):c.637-243G>A	noncoding	Benign
2	188989396	G	A	G188989396A	COL3A1	NM_000090.3(COL3A1):c.637G>A:p.Gly213Ser	coding	Pathogenic
2	188989406	G	A	G188989406A	COL3A1	NM_000090.3(COL3A1):c.647G>A:p.Gly216Glu	coding	Pathogenic
2	188989414	G	T	G188989414T	COL3A1	NM_000090.3(COL3A1):c.655G>T:p.Gly219Cys	coding	Pathogenic
2	188989415	G	A	G188989415A	COL3A1	NM_000090.3(COL3A1):c.656G>A:p.Gly219Asp	coding	Pathogenic
2	188989415	G	C	G188989415C	COL3A1	NM_000090.3(COL3A1):c.656G>C:p.Gly219Ala	coding	Pathogenic
2	188989424	G	A	G188989424A	COL3A1	NM_000090.3(COL3A1):c.665G>A:p.Gly222Asp	coding	Pathogenic
2	188989424	G	T	G188989424T	COL3A1	NM_000090.3(COL3A1):c.665G>T:p.Gly222Val	coding	Pathogenic
2	188989433	G	T	G188989433T	COL3A1	NM_000090.3(COL3A1):c.674G>T:p.Gly225Val	coding	Pathogenic
2	188989441	G	C	G188989441C	COL3A1	NM_000090.3(COL3A1):c.682G>C:p.Gly228Arg	coding	Pathogenic
2	188989442	G	A	G188989442A	COL3A1	NM_000090.3(COL3A1):c.683G>A:p.Gly228Glu	coding	Pathogenic
2	188989450	G	A	G188989450A	COL3A1	NM_000090.3(COL3A1):c.690+1G>A:p.Gly213_Asp230del	coding	Pathogenic
2	188989451	T	A	T188989451A	COL3A1	NM_000090.3(COL3A1):c.690+2T>A:p.Gly213_Asp230del	noncoding	Pathogenic
2	188989451	T	G	T188989451G	COL3A1	NM_000090.3(COL3A1):c.690+2T>G:p.Gly213_Asp230del	noncoding	Pathogenic
2	188989473	G	T	G188989473T	COL3A1	NM_000090.3(COL3A1):c.690+24G>T	noncoding	Benign
2	188989611	A	G	A188989611G	COL3A1	NM_000090.3(COL3A1):c.690+162A>G	noncoding	Benign
2	188989622	T	A	T188989622A	COL3A1	NM_000090.3(COL3A1):c.690+173T>A	noncoding	Benign
2	188989623	T	C	T188989623C	COL3A1	NM_000090.3(COL3A1):c.690+174T>C	noncoding	Benign
2	188990094	A	G	A188990094G	COL3A1	NM_000090.3(COL3A1):c.691-2A>G	noncoding	Pathogenic
2	188990106	G	A	G188990106A	COL3A1	NM_000090.3(COL3A1):c.701G>A:p.Gly234Asp	coding	Pathogenic
2	188990117	C	T	C188990117T	COL3A1	NM_000090.3(COL3A1):c.712C>T:p.Arg238Ter	coding	Pathogenic/Likely_pathogenic
2	188990123	G	C	G188990123C	COL3A1	NM_000090.3(COL3A1):c.718G>C:p.Gly240Arg	coding	Pathogenic
2	188990129	C	T	C188990129T	COL3A1	NM_000090.4(COL3A1):c.724C>T:p.Arg242Ter	coding	Pathogenic
2	188990133	G	A	G188990133A	COL3A1	NM_000090.3(COL3A1):c.728G>A:p.Gly243Glu	coding	Pathogenic
2	188990133	G	T	G188990133T	COL3A1	NM_000090.3(COL3A1):c.728G>T:p.Gly243Val	coding	Pathogenic
2	188990142	G	A	G188990142A	COL3A1	NM_000090.3(COL3A1):c.737G>A:p.Gly246Glu	coding	Pathogenic
2	188990308	G	T	G188990308T	COL3A1	NM_000090.3(COL3A1):c.746G>T:p.Gly249Val	coding	Pathogenic
2	188990316	G	C	G188990316C	COL3A1	NM_000090.3(COL3A1):c.754G>C:p.Gly252Arg	coding	Pathogenic
2	188990317	G	A	G188990317A	COL3A1	NM_000090.3(COL3A1):c.755G>A:p.Gly252Asp	coding	Pathogenic
2	188990317	G	T	G188990317T	COL3A1	NM_000090.3(COL3A1):c.755G>T:p.Gly252Val	coding	Pathogenic
2	188990326	G	A	G188990326A	COL3A1	NM_000090.3(COL3A1):c.764G>A:p.Gly255Glu	coding	Pathogenic
2	188990326	G	T	G188990326T	COL3A1	NM_000090.3(COL3A1):c.764G>T:p.Gly255Val	coding	Pathogenic
2	188990344	G	A	G188990344A	COL3A1	NM_000090.3(COL3A1):c.782G>A:p.Gly261Asp	coding	Pathogenic
2	188990353	G	A	G188990353A	COL3A1	NM_000090.3(COL3A1):c.791G>A:p.Gly264Glu	coding	Pathogenic
2	188990361	G	A	G188990361A	COL3A1	NM_000090.3(COL3A1):c.798+1G>A:p.Phe268Leufs*10	coding	Pathogenic
2	188990701	C	G	C188990701G	COL3A1	NM_000090.3(COL3A1):c.799-303C>G	noncoding	Benign
2	188990918	A	G	A188990918G	COL3A1	NM_000090.3(COL3A1):c.799-86A>G	noncoding	Benign
2	188990948	T	A	T188990948A	COL3A1	NM_000090.3(COL3A1):c.799-56T>A	noncoding	Benign
2	188990993	A	T	A188990993T	COL3A1	NM_000090.4(COL3A1):c.799-11A>T	noncoding	Benign/Likely_benign
2	188991004	G	A	G188991004A	COL3A1	NM_000090.3(COL3A1):c.799G>A:p.Gly267Ser	coding	Pathogenic
2	188991005	G	T	G188991005T	COL3A1	NM_000090.3(COL3A1):c.800G>T:p.Gly267Val	coding	Pathogenic
2	188991014	G	A	G188991014A	COL3A1	NM_000090.3(COL3A1):c.809G>A:p.Gly270Glu	coding	Pathogenic
2	188991016	C	T	C188991016T	COL3A1	NM_000090.3(COL3A1):c.811C>T:p.Arg271Ter	coding	Pathogenic
2	188991017	G	A	G188991017A	COL3A1	NM_000090.3(COL3A1):c.812G>A:p.Arg271Gln	coding	Benign/Likely_benign
2	188991031	G	A	G188991031A	COL3A1	NM_000090.3(COL3A1):c.826G>A:p.Gly276Ser	coding	Pathogenic
2	188991032	G	A	G188991032A	COL3A1	NM_000090.3(COL3A1):c.827G>A:p.Gly276Asp	coding	Pathogenic
2	188991041	G	A	G188991041A	COL3A1	NM_000090.3(COL3A1):c.836G>A:p.Gly279Asp	coding	Pathogenic
2	188991049	G	A	G188991049A	COL3A1	NM_000090.3(COL3A1):c.844G>A:p.Gly282Arg	coding	Pathogenic
2	188991050	G	T	G188991050T	COL3A1	NM_000090.3(COL3A1):c.845G>T:p.Gly282Val	coding	Pathogenic
2	188991360	A	G	A188991360G	COL3A1	NM_000090.3(COL3A1):c.853-127A>G	noncoding	Benign
2	188991532	G	A	G188991532A	COL3A1	NM_000090.3(COL3A1):c.897+1G>A	coding	Pathogenic
2	188991664	T	C	T188991664C	COL3A1	NM_000090.3(COL3A1):c.898-5T>C	noncoding	Benign/Likely_benign
2	188991668	G	C	G188991668C	COL3A1	NM_000090.3(COL3A1):c.898-1G>C:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991670	G	A	G188991670A	COL3A1	NM_000090.3(COL3A1):c.899G>A:p.Gly300Asp	coding	Pathogenic
2	188991670	G	T	G188991670T	COL3A1	NM_000090.3(COL3A1):c.899G>T:p.Gly300Val	coding	Pathogenic
2	188991678	G	A	G188991678A	COL3A1	NM_000090.3(COL3A1):c.907G>A:p.Gly303Arg	coding	Pathogenic
2	188991715	G	C	G188991715C	COL3A1	NM_000090.3(COL3A1):c.944G>C:p.Gly315Ala	coding	Pathogenic
2	188991723	G	A	G188991723A	COL3A1	NM_000090.3(COL3A1):c.951+1G>A:p.Gly300_Ala317del	coding	Pathogenic
2	188991724	T	A	T188991724A	COL3A1	NM_000090.3(COL3A1):c.951+2T>A:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991724	T	C	T188991724C	COL3A1	NM_000090.3(COL3A1):c.951+2T>C:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991725	G	T	G188991725T	COL3A1	NM_000090.3(COL3A1):c.951+3G>T:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991726	A	T	A188991726T	COL3A1	NM_000090.3(COL3A1):c.951+4A>T:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991727	G	A	G188991727A	COL3A1	NM_000090.3(COL3A1):c.951+5G>A:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991728	T	A	T188991728A	COL3A1	NM_000090.3(COL3A1):c.951+6T>A:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991728	T	C	T188991728C	COL3A1	NM_000090.3(COL3A1):c.951+6T>C:p.Gly300_Ala317del	noncoding	Pathogenic
2	188991945	C	T	C188991945T	COL3A1	NM_000090.3(COL3A1):c.951+223C>T	noncoding	Benign
2	188992185	G	A	G188992185A	COL3A1	NM_000090.3(COL3A1):c.953G>A:p.Gly318Asp	coding	Pathogenic
2	188992194	G	A	G188992194A	COL3A1	NM_000090.3(COL3A1):c.962G>A:p.Gly321Asp	coding	Pathogenic/Likely_pathogenic
2	188992194	G	T	G188992194T	COL3A1	NM_000090.3(COL3A1):c.962G>T:p.Gly321Val	coding	Pathogenic
2	188992202	G	A	G188992202A	COL3A1	NM_000090.3(COL3A1):c.970G>A:p.Gly324Ser	coding	Pathogenic/Likely_pathogenic
2	188992208	C	T	C188992208T	COL3A1	NM_000090.3(COL3A1):c.976C>T:p.Arg326Ter	coding	Pathogenic
2	188992229	G	A	G188992229A	COL3A1	NM_000090.3(COL3A1):c.996+1G>A:p.Gly318_Pro332del	coding	Pathogenic
2	188992230	T	A	T188992230A	COL3A1	NM_000090.3(COL3A1):c.996+2T>A:p.Gly318_Pro332del	noncoding	Pathogenic
2	188992877	A	G	A188992877G	COL3A1	NM_000090.3(COL3A1):c.997-10A>G:p.Pro332_Gly333insFFQ	noncoding	Pathogenic
2	188992885	A	G	A188992885G	COL3A1	NM_000090.3(COL3A1):c.997-2A>G:p.Gly333_Lys350del+	noncoding	Pathogenic
2	188992886	G	C	G188992886C	COL3A1	NM_000090.3(COL3A1):c.997-1G>C:p.Gly333_Lys350del+	noncoding	Pathogenic/Likely_pathogenic
2	188992914	G	A	G188992914A	COL3A1	NM_000090.3(COL3A1):c.1024G>A:p.Gly342Arg	coding	Pathogenic/Likely_pathogenic
2	188992923	G	A	G188992923A	COL3A1	NM_000090.3(COL3A1):c.1033G>A:p.Gly345Arg	coding	Pathogenic
2	188993348	G	A	G188993348A	COL3A1	NM_000090.4(COL3A1):c.1051-13G>A	noncoding	Benign/Likely_benign
2	188993397	G	A	G188993397A	COL3A1	NM_000090.3(COL3A1):c.1087G>A:p.Gly363Ser	coding	Pathogenic
2	188993406	G	A	G188993406A	COL3A1	NM_000090.3(COL3A1):c.1096G>A:p.Gly366Arg	coding	Pathogenic
2	188993416	G	A	G188993416A	COL3A1	NM_000090.3(COL3A1):c.1106G>A:p.Gly369Glu	coding	Pathogenic
2	188993425	G	T	G188993425T	COL3A1	NM_000090.3(COL3A1):c.1115G>T:p.Gly372Val	coding	Pathogenic
2	188993434	G	A	G188993434A	COL3A1	NM_000090.3(COL3A1):c.1124G>A:p.Gly375Glu	coding	Pathogenic
2	188993452	G	A	G188993452A	COL3A1	NM_000090.3(COL3A1):c.1142G>A:p.Gly381Asp	coding	Pathogenic
2	188993460	G	A	G188993460A	COL3A1	NM_000090.3(COL3A1):c.1149+1G>A:p.Gly351_Pro383del	coding	Pathogenic
2	188993460	G	T	G188993460T	COL3A1	NM_000090.3(COL3A1):c.1149+1G>T:p.Gly351_Pro383del	coding	Pathogenic
2	188993464	G	A	G188993464A	COL3A1	NM_000090.3(COL3A1):c.1149+5G>A:p.Gly351_Pro383del	noncoding	Pathogenic
2	188994037	G	C	G188994037C	COL3A1	NM_000090.3(COL3A1):c.1150-1G>C:p.Gly384_Met398del	noncoding	Pathogenic
2	188994083	G	A	G188994083A	COL3A1	NM_000090.3(COL3A1):c.1194+1G>A:p.Gly384_Met398del	coding	Pathogenic
2	188994083	G	C	G188994083C	COL3A1	NM_000090.3(COL3A1):c.1194+1G>C:p.Gly384_Met398del	coding	Pathogenic
2	188994261	G	A	G188994261A	COL3A1	NM_000090.3(COL3A1):c.1222G>A:p.Gly408Arg	coding	Pathogenic
2	188994279	G	T	G188994279T	COL3A1	NM_000090.3(COL3A1):c.1240G>T:p.Gly414Cys	coding	Pathogenic
2	188994288	G	A	G188994288A	COL3A1	NM_000090.3(COL3A1):c.1249G>A:p.Gly417Arg	coding	Pathogenic
2	188994296	C	T	C188994296T	COL3A1	NM_000090.3(COL3A1):c.1257C>T:p.Ala419=	coding	Benign
2	188994297	G	A	G188994297A	COL3A1	NM_000090.3(COL3A1):c.1258G>A:p.Gly420Ser	coding	Pathogenic/Likely_pathogenic
2	188994307	G	A	G188994307A	COL3A1	NM_000090.3(COL3A1):c.1268G>A:p.Gly423Asp	coding	Pathogenic
2	188994321	C	T	C188994321T	COL3A1	NM_000090.3(COL3A1):c.1282C>T:p.Arg428Ter	coding	Pathogenic
2	188994347	T	A	T188994347A	COL3A1	NM_000090.4(COL3A1):c.1293+15T>A	noncoding	Benign
2	188994538	T	G	T188994538G	COL3A1	NM_000090.3(COL3A1):c.1294-3T>G:p.Gly432_Arg449del	noncoding	Pathogenic
2	188994577	G	A	G188994577A	COL3A1	NM_000090.3(COL3A1):c.1330G>A:p.Gly444Arg	coding	Pathogenic/Likely_pathogenic
2	188994577	G	C	G188994577C	COL3A1	NM_000090.3(COL3A1):c.1330G>C:p.Gly444Arg	coding	Pathogenic
2	188994594	C	T	C188994594T	COL3A1	NM_000090.4(COL3A1):c.1347C>T:p.Arg449=	coding	Benign/Likely_benign
2	188994595	G	A	G188994595A	COL3A1	NM_000090.3(COL3A1):c.1347+1G>A:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	coding	Pathogenic/Likely_pathogenic
2	188994595	G	T	G188994595T	COL3A1	NM_000090.3(COL3A1):c.1347+1G>T:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	coding	Pathogenic
2	188994597	A	C	A188994597C	COL3A1	NM_000090.3(COL3A1):c.1347+3A>C:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	noncoding	Pathogenic
2	188994599	G	C	G188994599C	COL3A1	NM_000090.3(COL3A1):c.1347+5G>C:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	noncoding	Pathogenic
2	188994711	T	C	T188994711C	COL3A1	NM_000090.3(COL3A1):c.1348-13T>C	noncoding	Benign
2	188994734	G	A	G188994734A	COL3A1	NM_000090.3(COL3A1):c.1358G>A:p.Gly453Asp	coding	Pathogenic
2	188994760	G	A	G188994760A	COL3A1	NM_000090.3(COL3A1):c.1384G>A:p.Gly462Ser	coding	Pathogenic
2	188995036	T	G	T188995036G	COL3A1	NM_000090.3(COL3A1):c.1456-10T>G:p.Arg485_Gly486insTyrPheGln	noncoding	Pathogenic
2	188995047	G	T	G188995047T	COL3A1	NM_000090.4(COL3A1):c.1457G>T:p.Gly486Val	coding	Pathogenic
2	188995056	G	A	G188995056A	COL3A1	NM_000090.3(COL3A1):c.1466G>A:p.Gly489Glu	coding	Pathogenic
2	188995061	C	T	C188995061T	COL3A1	NM_000090.3(COL3A1):c.1471C>T:p.Arg491Ter	coding	Pathogenic
2	188995065	G	A	G188995065A	COL3A1	NM_000090.3(COL3A1):c.1475G>A:p.Gly492Glu	coding	Pathogenic
2	188995065	G	T	G188995065T	COL3A1	NM_000090.3(COL3A1):c.1475G>T:p.Gly492Val	coding	Pathogenic
2	188995066	A	C	A188995066C	COL3A1	NM_000090.3(COL3A1):c.1476A>C:p.Gly492=	coding	Benign/Likely_benign
2	188995091	G	A	G188995091A	COL3A1	NM_000090.3(COL3A1):c.1501G>A:p.Gly501Arg	coding	Pathogenic
2	188995092	G	A	G188995092A	COL3A1	NM_000090.3(COL3A1):c.1502G>A:p.Gly501Glu	coding	Pathogenic
2	188995104	A	G	A188995104G	COL3A1	NM_000090.3(COL3A1):c.1509+5A>G	noncoding	Benign/Likely_benign
2	188995106	A	C	A188995106C	COL3A1	NM_000090.3(COL3A1):c.1509+7A>C	noncoding	Benign
2	188995402	C	T	C188995402T	COL3A1	NM_000090.3(COL3A1):c.1510-290C>T	noncoding	Benign
2	188995418	G	T	G188995418T	COL3A1	NM_000090.3(COL3A1):c.1510-274G>T	noncoding	Benign
2	188995693	G	T	G188995693T	COL3A1	NM_000090.3(COL3A1):c.1511G>T:p.Gly504Val	coding	Pathogenic
2	188995732	C	T	C188995732T	COL3A1	NM_000090.3(COL3A1):c.1550C>T:p.Pro517Leu	coding	Benign/Likely_benign
2	188995738	G	A	G188995738A	COL3A1	NM_000090.3(COL3A1):c.1556G>A:p.Gly519Glu	coding	Pathogenic
2	188995904	A	C	A188995904C	COL3A1	NM_000090.3(COL3A1):c.1608+114A>C	noncoding	Benign
2	188995931	A	G	A188995931G	COL3A1	NM_000090.3(COL3A1):c.1608+141A>G	noncoding	Benign
2	188996066	T	C	T188996066C	COL3A1	NM_000090.3(COL3A1):c.1609-59T>C	noncoding	Benign
2	188996133	C	T	C188996133T	COL3A1	NM_000090.3(COL3A1):c.1617C>T:p.Pro539=	coding	Benign/Likely_benign
2	188996134	G	A	G188996134A	COL3A1	NM_000090.3(COL3A1):c.1618G>A:p.Gly540Arg	coding	Pathogenic
2	188996162	G	A	G188996162A	COL3A1	NM_000090.3(COL3A1):c.1646G>A:p.Gly549Glu	coding	Pathogenic
2	188996170	G	A	G188996170A	COL3A1	NM_000090.4(COL3A1):c.1654G>A:p.Gly552Arg	coding	Pathogenic
2	188996171	G	A	G188996171A	COL3A1	NM_000090.3(COL3A1):c.1655G>A:p.Gly552Glu	coding	Pathogenic
2	188996175	T	A	T188996175A	COL3A1	NM_000090.3(COL3A1):c.1659T>A:p.Pro553=	coding	Benign
2	188996179	G	A	G188996179A	COL3A1	NM_000090.3(COL3A1):c.1662+1G>A:p.Gly537_Pro554del	coding	Pathogenic
2	188996179	G	C	G188996179C	COL3A1	NM_000090.3(COL3A1):c.1662+1G>C:p.Gly537_Pro554del	coding	Pathogenic
2	188996179	G	T	G188996179T	COL3A1	NM_000090.3(COL3A1):c.1662+1G>T:p.Gly537_Pro554del	coding	Pathogenic
2	188996419	C	T	C188996419T	COL3A1	NM_000090.3(COL3A1):c.1684C>T:p.Arg562Ter	coding	Pathogenic
2	188996432	C	T	C188996432T	COL3A1	NM_000090.3(COL3A1):c.1697C>T:p.Pro566Leu	coding	Benign/Likely_benign
2	188996479	G	A	G188996479A	COL3A1	NM_000090.3(COL3A1):c.1744G>A:p.Gly582Ser	coding	Pathogenic
2	188996479	G	C	G188996479C	COL3A1	NM_000090.3(COL3A1):c.1744G>C:p.Gly582Arg	coding	Pathogenic
2	188996498	T	C	T188996498C	COL3A1	NM_000090.3(COL3A1):c.1761+2T>C:p.Gly555_Asp587del	noncoding	Pathogenic
2	188996498	T	G	T188996498G	COL3A1	NM_000090.3(COL3A1):c.1761+2T>G:p.Gly555_Asp587del	noncoding	Pathogenic
2	188996501	G	T	G188996501T	COL3A1	NM_000090.3(COL3A1):c.1761+5G>T	noncoding	Pathogenic
2	188997163	A	G	A188997163G	COL3A1	NM_000090.3(COL3A1):c.1762-2A>G:p.Gly588_Gln605del	noncoding	Pathogenic
2	188997166	G	A	G188997166A	COL3A1	NM_000090.3(COL3A1):c.1763G>A:p.Gly588Asp	coding	Pathogenic/Likely_pathogenic
2	188997173	T	C	T188997173C	COL3A1	NM_000090.3(COL3A1):c.1770T>C:p.Pro590=	coding	Benign
2	188997189	C	T	C188997189T	COL3A1	NM_000090.3(COL3A1):c.1786C>T:p.Arg596Ter	coding	Pathogenic
2	188997207	C	A	C188997207A	COL3A1	NM_000090.3(COL3A1):c.1804C>A:p.Pro602Thr	coding	Benign/Likely_benign
2	188997211	G	A	G188997211A	COL3A1	NM_000090.3(COL3A1):c.1808G>A:p.Gly603Asp	coding	Pathogenic
2	188997211	G	T	G188997211T	COL3A1	NM_000090.3(COL3A1):c.1808G>T:p.Gly603Val	coding	Pathogenic
2	188997236	A	G	A188997236G	COL3A1	NM_000090.3(COL3A1):c.1815+18A>G	noncoding	Benign
2	188997317	T	C	T188997317C	COL3A1	NM_000090.3(COL3A1):c.1816-19T>C	noncoding	Benign/Likely_benign
2	188997322	G	C	G188997322C	COL3A1	NM_000090.4(COL3A1):c.1816-14G>C	noncoding	Benign
2	188997336	G	C	G188997336C	COL3A1	NM_000090.3(COL3A1):c.1816G>C:p.Gly606Arg	coding	Pathogenic
2	188997364	G	A	G188997364A	COL3A1	NM_000090.3(COL3A1):c.1844G>A:p.Gly615Glu	coding	Pathogenic
2	188997371	G	A	G188997371A	COL3A1	NM_000090.4(COL3A1):c.1851G>A:p.Gln617=	coding	Benign
2	188997381	G	C	G188997381C	COL3A1	NM_000090.3(COL3A1):c.1861G>C:p.Gly621Arg	coding	Pathogenic
2	188997381	G	T	G188997381T	COL3A1	NM_000090.3(COL3A1):c.1861G>T:p.Gly621Trp	coding	Pathogenic
2	188997382	G	A	G188997382A	COL3A1	NM_000090.3(COL3A1):c.1862G>A:p.Gly621Glu	coding	Pathogenic
2	188997382	G	T	G188997382T	COL3A1	NM_000090.3(COL3A1):c.1862G>T:p.Gly621Val	coding	Pathogenic
2	188997390	G	C	G188997390C	COL3A1	NM_000090.3(COL3A1):c.1869+1G>C:p.Gly606_Thr623del	coding	Pathogenic
2	188997394	G	A	G188997394A	COL3A1	NM_000090.3(COL3A1):c.1869+5G>A	noncoding	Pathogenic
2	188997394	G	T	G188997394T	COL3A1	NM_000090.3(COL3A1):c.1869+5G>T:p.Gly606_Thr623del	noncoding	Pathogenic
2	188997477	C	T	C188997477T	COL3A1	NM_000090.3(COL3A1):c.1869+88C>T	noncoding	Benign
2	188997523	G	A	G188997523A	COL3A1	NM_000090.3(COL3A1):c.1869+134G>A	noncoding	Benign
2	188997626	G	A	G188997626A	COL3A1	NM_000090.3(COL3A1):c.1870-74G>A	noncoding	Benign
2	188997686	T	C	T188997686C	COL3A1	NM_000090.4(COL3A1):c.1870-14T>C	noncoding	Benign
2	188997698	A	G	A188997698G	COL3A1	NM_000090.3(COL3A1):c.1870-2A>G:p.Gly624_Gln641del	noncoding	Pathogenic
2	188997698	A	T	A188997698T	COL3A1	NM_000090.3(COL3A1):c.1870-2A>T:p.Gly624_Gln641del	noncoding	Pathogenic
2	188997728	G	A	G188997728A	COL3A1	NM_000090.3(COL3A1):c.1898G>A:p.Gly633Glu	coding	Pathogenic
2	188997736	G	C	G188997736C	COL3A1	NM_000090.3(COL3A1):c.1906G>C:p.Gly636Arg	coding	Pathogenic
2	188997745	G	A	G188997745A	COL3A1	NM_000090.3(COL3A1):c.1915G>A:p.Gly639Arg	coding	Pathogenic
2	188997745	G	C	G188997745C	COL3A1	NM_000090.3(COL3A1):c.1915G>C:p.Gly639Arg	coding	Pathogenic
2	188997746	G	A	G188997746A	COL3A1	NM_000090.3(COL3A1):c.1916G>A:p.Gly639Glu	coding	Pathogenic
2	188997754	G	A	G188997754A	COL3A1	NM_000090.3(COL3A1):c.1923+1G>A:p.Gly624_Gln641del	coding	Pathogenic
2	188997754	G	C	G188997754C	COL3A1	NM_000090.3(COL3A1):c.1923+1G>C:p.Gly624_Gln641del	coding	Pathogenic
2	188998082	A	C	A188998082C	COL3A1	NM_000090.3(COL3A1):c.1924-184A>C	noncoding	Benign
2	188998164	G	A	G188998164A	COL3A1	NM_000090.3(COL3A1):c.1924-102G>A	noncoding	Benign
2	188998267	G	T	G188998267T	COL3A1	NM_000090.3(COL3A1):c.1925G>T:p.Gly642Val	coding	Pathogenic
2	188998269	T	C	T188998269C	COL3A1	NM_000090.3(COL3A1):c.1927T>C:p.Leu643=	coding	Benign
2	188998303	G	A	G188998303A	COL3A1	NM_000090.3(COL3A1):c.1961G>A:p.Gly654Glu	coding	Pathogenic
2	188998312	G	A	G188998312A	COL3A1	NM_000090.3(COL3A1):c.1970G>A:p.Gly657Glu	coding	Pathogenic
2	188998321	T	G	T188998321G	COL3A1	NM_000090.3(COL3A1):c.1977+2T>G:p.Gly642_Pro659del	noncoding	Pathogenic
2	188998328	C	T	C188998328T	COL3A1	NM_000090.3(COL3A1):c.1977+9C>T	noncoding	Benign
2	188998663	C	T	C188998663T	COL3A1	NM_000090.4(COL3A1):c.1978-11C>T	noncoding	Benign
2	188998675	G	A	G188998675A	COL3A1	NM_000090.3(COL3A1):c.1979G>A:p.Gly660Asp	coding	Pathogenic
2	188998683	G	C	G188998683C	COL3A1	NM_000090.3(COL3A1):c.1987G>C:p.Gly663Arg	coding	Pathogenic
2	188998684	G	A	G188998684A	COL3A1	NM_000090.3(COL3A1):c.1988G>A:p.Gly663Asp	coding	Pathogenic
2	188998691	C	T	C188998691T	COL3A1	NM_000090.3(COL3A1):c.1995C>T:p.Ala665=	coding	Benign/Likely_benign
2	188998698	C	T	C188998698T	COL3A1	NM_000090.3(COL3A1):c.2002C>T:p.Pro668Ser	coding	Benign/Likely_benign
2	188998718	G	A	G188998718A	COL3A1	NM_000090.3(COL3A1):c.2022G>A:p.Lys674=	coding	Pathogenic
2	188998718	G	T	G188998718T	COL3A1	NM_000090.3(COL3A1):c.2022G>T:p.Lys674Asn	coding	Pathogenic
2	188998720	T	C	T188998720C	COL3A1	NM_000090.3(COL3A1):c.2022+2T>C:p.Gly660_Lys674del	noncoding	Pathogenic
2	188998723	T	C	T188998723C	COL3A1	NM_000090.3(COL3A1):c.2022+5T>C	noncoding	Benign
2	188999284	G	A	G188999284A	COL3A1	NM_000090.3(COL3A1):c.2023-1G>A:p.Gly675Valfs*116	noncoding	Pathogenic
2	188999286	G	T	G188999286T	COL3A1	NM_000090.3(COL3A1):c.2024G>T:p.Gly675Val	coding	Pathogenic
2	188999297	G	A	G188999297A	COL3A1	NM_000090.3(COL3A1):c.2035G>A:p.Ala679Thr	coding	Benign/Likely_benign
2	188999313	G	A	G188999313A	COL3A1	NM_000090.3(COL3A1):c.2051G>A:p.Gly684Glu	coding	Pathogenic
2	188999313	G	T	G188999313T	COL3A1	NM_000090.3(COL3A1):c.2051G>T:p.Gly684Val	coding	Pathogenic
2	188999318	C	G	C188999318G	COL3A1	NM_000090.3(COL3A1):c.2056C>G:p.Pro686Ala	coding	Benign/Likely_benign
2	188999321	G	C	G188999321C	COL3A1	NM_000090.3(COL3A1):c.2059G>C:p.Gly687Arg	coding	Pathogenic
2	188999330	G	A	G188999330A	COL3A1	NM_000090.3(COL3A1):c.2068G>A:p.Gly690Arg	coding	Pathogenic
2	188999331	G	T	G188999331T	COL3A1	NM_000090.3(COL3A1):c.2069G>T:p.Gly690Val	coding	Pathogenic
2	188999349	G	A	G188999349A	COL3A1	NM_000090.3(COL3A1):c.2087G>A:p.Gly696Asp	coding	Pathogenic
2	188999354	G	A	G188999354A	COL3A1	NM_000090.4(COL3A1):c.2092G>A:p.Ala698Thr	coding	Benign
2	188999357	G	C	G188999357C	COL3A1	NM_000090.3(COL3A1):c.2095G>C:p.Gly699Arg	coding	Pathogenic
2	188999358	G	A	G188999358A	COL3A1	NM_000090.3(COL3A1):c.2096G>A:p.Gly699Asp	coding	Pathogenic
2	188999358	G	T	G188999358T	COL3A1	NM_000090.3(COL3A1):c.2096G>T:p.Gly699Val	coding	Pathogenic
2	188999367	G	A	G188999367A	COL3A1	NM_000090.3(COL3A1):c.2105G>A:p.Gly702Asp	coding	Pathogenic
2	188999367	G	T	G188999367T	COL3A1	NM_000090.3(COL3A1):c.2105G>T:p.Gly702Val	coding	Pathogenic
2	188999375	G	A	G188999375A	COL3A1	NM_000090.3(COL3A1):c.2113G>A:p.Gly705Arg	coding	Pathogenic
2	188999376	G	A	G188999376A	COL3A1	NM_000090.3(COL3A1):c.2114G>A:p.Gly705Glu	coding	Pathogenic
2	188999384	G	C	G188999384C	COL3A1	NM_000090.3(COL3A1):c.2121+1G>C:p.Gly675_Lys707del	coding	Pathogenic
2	188999401	C	A	C188999401A	COL3A1	NM_000090.3(COL3A1):c.2121+18C>A	noncoding	Benign
2	188999479	G	A	G188999479A	COL3A1	NM_000090.3(COL3A1):c.2131G>A:p.Gly711Ser	coding	Pathogenic
2	188999488	G	A	G188999488A	COL3A1	NM_000090.3(COL3A1):c.2140G>A:p.Gly714Arg	coding	Pathogenic
2	188999489	G	A	G188999489A	COL3A1	NM_000090.3(COL3A1):c.2141G>A:p.Gly714Glu	coding	Pathogenic
2	188999498	G	A	G188999498A	COL3A1	NM_000090.3(COL3A1):c.2150G>A:p.Gly717Asp	coding	Pathogenic
2	188999516	G	A	G188999516A	COL3A1	NM_000090.3(COL3A1):c.2168G>A:p.Gly723Asp	coding	Pathogenic
2	188999524	G	A	G188999524A	COL3A1	NM_000090.3(COL3A1):c.2176G>A:p.Gly726Arg	coding	Pathogenic
2	188999525	G	A	G188999525A	COL3A1	NM_000090.3(COL3A1):c.2177G>A:p.Gly726Glu	coding	Pathogenic
2	188999533	G	A	G188999533A	COL3A1	NM_000090.3(COL3A1):c.2185G>A:p.Gly729Arg	coding	Pathogenic
2	188999534	G	A	G188999534A	COL3A1	NM_000090.3(COL3A1):c.2186G>A:p.Gly729Glu	coding	Pathogenic
2	188999542	G	A	G188999542A	COL3A1	NM_000090.3(COL3A1):c.2194G>A:p.Gly732Arg	coding	Pathogenic/Likely_pathogenic
2	188999551	G	A	G188999551A	COL3A1	NM_000090.3(COL3A1):c.2203G>A:p.Gly735Arg	coding	Pathogenic
2	188999560	G	A	G188999560A	COL3A1	NM_000090.3(COL3A1):c.2212G>A:p.Gly738Ser	coding	Pathogenic
2	188999560	G	T	G188999560T	COL3A1	NM_000090.3(COL3A1):c.2212G>T:p.Gly738Cys	coding	Pathogenic
2	188999561	G	T	G188999561T	COL3A1	NM_000090.3(COL3A1):c.2213G>T:p.Gly738Val	coding	Pathogenic
2	188999569	G	A	G188999569A	COL3A1	NM_000090.3(COL3A1):c.2221G>A:p.Gly741Ser	coding	Pathogenic
2	188999569	G	T	G188999569T	COL3A1	NM_000090.3(COL3A1):c.2221G>T:p.Gly741Cys	coding	Pathogenic
2	188999570	G	A	G188999570A	COL3A1	NM_000090.3(COL3A1):c.2222G>A:p.Gly741Asp	coding	Pathogenic
2	188999843	G	T	G188999843T	COL3A1	NM_000090.3(COL3A1):c.2231G>T:p.Gly744Val	coding	Pathogenic
2	188999856	T	C	T188999856C	COL3A1	NM_000090.4(COL3A1):c.2244T>C:p.Gly748=	coding	Benign
2	188999879	G	A	G188999879A	COL3A1	NM_000090.4(COL3A1):c.2267G>A:p.Gly756Glu	coding	Pathogenic/Likely_pathogenic
2	188999888	G	A	G188999888A	COL3A1	NM_000090.3(COL3A1):c.2276G>A:p.Gly759Asp	coding	Pathogenic
2	189000114	C	T	C189000114T	COL3A1	NM_000090.3(COL3A1):c.2283+219C>T	noncoding	Benign
2	189001395	A	G	A189001395G	COL3A1	NM_000090.3(COL3A1):c.2284-2A>G:p.Gly762_Lys779del	noncoding	Pathogenic
2	189001397	G	C	G189001397C	COL3A1	NM_000090.3(COL3A1):c.2284G>C:p.Gly762Arg	coding	Pathogenic
2	189001398	G	A	G189001398A	COL3A1	NM_000090.3(COL3A1):c.2285G>A:p.Gly762Asp	coding	Pathogenic
2	189001398	G	T	G189001398T	COL3A1	NM_000090.3(COL3A1):c.2285G>T:p.Gly762Val	coding	Pathogenic
2	189001406	G	A	G189001406A	COL3A1	NM_000090.3(COL3A1):c.2293G>A:p.Gly765Ser	coding	Pathogenic
2	189001407	G	T	G189001407T	COL3A1	NM_000090.3(COL3A1):c.2294G>T:p.Gly765Val	coding	Pathogenic
2	189001450	G	A	G189001450A	COL3A1	NM_000090.3(COL3A1):c.2337G>A:p.Lys779=	coding	Pathogenic
2	189001451	G	A	G189001451A	COL3A1	NM_000090.3(COL3A1):c.2337+1G>A:p.Gly762_Lys779del	coding	Pathogenic
2	189001452	T	C	T189001452C	COL3A1	NM_000090.3(COL3A1):c.2337+2T>C:p.Gly762_Lys779del	noncoding	Pathogenic
2	189001473	T	A	T189001473A	COL3A1	NM_000090.3(COL3A1):c.2337+23T>A	noncoding	Benign
2	189001534	A	G	A189001534G	COL3A1	NM_000090.3(COL3A1):c.2338-2A>G	noncoding	Pathogenic
2	189001553	C	G	C189001553G	COL3A1	NM_000090.3(COL3A1):c.2355C>G:p.Pro785=	coding	Benign/Likely_benign
2	189001554	G	A	G189001554A	COL3A1	NM_000090.3(COL3A1):c.2356G>A:p.Gly786Arg	coding	Pathogenic
2	189001555	G	T	G189001555T	COL3A1	NM_000090.3(COL3A1):c.2357G>T:p.Gly786Val	coding	Pathogenic
2	189002066	A	G	A189002066G	COL3A1	NM_000090.3(COL3A1):c.2392-232A>G	noncoding	Benign
2	189002296	A	C	A189002296C	COL3A1	NM_000090.3(COL3A1):c.2392-2A>C	noncoding	Pathogenic
2	189002308	G	A	G189002308A	COL3A1	NM_000090.3(COL3A1):c.2402G>A:p.Gly801Asp	coding	Pathogenic
2	189002316	G	A	G189002316A	COL3A1	NM_000090.3(COL3A1):c.2410G>A:p.Gly804Ser	coding	Pathogenic
2	189002343	G	A	G189002343A	COL3A1	NM_000090.3(COL3A1):c.2437G>A:p.Gly813Ser	coding	Pathogenic
2	189002351	T	G	T189002351G	COL3A1	NM_000090.3(COL3A1):c.2445T>G:p.Pro815=	coding	Benign/Likely_benign
2	189002418	A	G	A189002418G	COL3A1	NM_000090.3(COL3A1):c.2445+67A>G	noncoding	Benign
2	189002479	G	A	G189002479A	COL3A1	NM_000090.3(COL3A1):c.2445+128G>A	noncoding	Benign
2	189002513	C	T	C189002513T	COL3A1	NM_000090.3(COL3A1):c.2445+162C>T	noncoding	Benign
2	189002991	G	T	G189002991T	COL3A1	NM_000090.3(COL3A1):c.2482G>T:p.Gly828Trp	coding	Pathogenic
2	189003002	T	C	T189003002C	COL3A1	NM_000090.3(COL3A1):c.2493T>C:p.Gly831=	coding	Benign/Likely_benign
2	189003010	G	A	G189003010A	COL3A1	NM_000090.3(COL3A1):c.2501G>A:p.Gly834Asp	coding	Pathogenic
2	189003019	G	A	G189003019A	COL3A1	NM_000090.3(COL3A1):c.2510G>A:p.Gly837Asp	coding	Pathogenic
2	189003063	G	A	G189003063A	COL3A1	NM_000090.3(COL3A1):c.2553+1G>A:p.Gly816_Ala851del	coding	Pathogenic
2	189003063	G	C	G189003063C	COL3A1	NM_000090.3(COL3A1):c.2553+1G>C:p.Gly816_Ala851del	coding	Pathogenic
2	189003064	T	C	T189003064C	COL3A1	NM_000090.3(COL3A1):c.2553+2T>C:p.Gly816_Ala851del	noncoding	Pathogenic
2	189003065	A	T	A189003065T	COL3A1	NM_000090.3(COL3A1):c.2553+3A>T:p.Gly816_Ala851del	noncoding	Pathogenic
2	189003067	G	T	G189003067T	COL3A1	NM_000090.3(COL3A1):c.2553+5G>T	noncoding	Pathogenic
2	189003410	G	A	G189003410A	COL3A1	NM_000090.3(COL3A1):c.2554-1G>A:p.Gly852Valfs*384	noncoding	Pathogenic
2	189003411	G	T	G189003411T	COL3A1	NM_000090.3(COL3A1):c.2554G>T:p.Gly852Cys	coding	Pathogenic
2	189003412	G	A	G189003412A	COL3A1	NM_000090.3(COL3A1):c.2555G>A:p.Gly852Asp	coding	Pathogenic
2	189003421	G	A	G189003421A	COL3A1	NM_000090.3(COL3A1):c.2564G>A:p.Gly855Asp	coding	Pathogenic
2	189003426	C	T	C189003426T	COL3A1	NM_000090.3(COL3A1):c.2569C>T:p.Gln857Ter	coding	Pathogenic
2	189003430	G	T	G189003430T	COL3A1	NM_000090.3(COL3A1):c.2573G>T:p.Gly858Val	coding	Pathogenic
2	189003457	G	A	G189003457A	COL3A1	NM_000090.3(COL3A1):c.2600G>A:p.Gly867Asp	coding	Pathogenic
2	189003469	G	A	G189003469A	COL3A1	NM_000090.3(COL3A1):c.2607+5G>A:p.Gly852_Pro869del	noncoding	Pathogenic
2	189003469	G	T	G189003469T	COL3A1	NM_000090.3(COL3A1):c.2607+5G>T:p.Gly852_Pro869del	noncoding	Pathogenic
2	189003655	G	A	G189003655A	COL3A1	NM_000090.3(COL3A1):c.2608-79G>A	noncoding	Benign
2	189003684	C	T	C189003684T	COL3A1	NM_000090.3(COL3A1):c.2608-50C>T	noncoding	Benign
2	189003762	G	T	G189003762T	COL3A1	NM_000090.3(COL3A1):c.2636G>T:p.Gly879Val	coding	Pathogenic
2	189003771	G	A	G189003771A	COL3A1	NM_000090.3(COL3A1):c.2645G>A:p.Gly882Asp	coding	Pathogenic
2	189003809	T	A	T189003809A	COL3A1	NM_000090.3(COL3A1):c.2661+22T>A	noncoding	Benign
2	189003890	G	C	G189003890C	COL3A1	NM_000090.3(COL3A1):c.2662-92G>C	noncoding	Benign
2	189003992	G	A	G189003992A	COL3A1	NM_000090.4(COL3A1):c.2672G>A:p.Gly891Glu	coding	Pathogenic
2	189004001	G	C	G189004001C	COL3A1	NM_000090.3(COL3A1):c.2681G>C:p.Gly894Ala	coding	Pathogenic
2	189004019	G	A	G189004019A	COL3A1	NM_000090.3(COL3A1):c.2699G>A:p.Gly900Asp	coding	Pathogenic
2	189004020	C	T	C189004020T	COL3A1	NM_000090.3(COL3A1):c.2700C>T:p.Gly900=	coding	Benign/Likely_benign
2	189004028	G	A	G189004028A	COL3A1	NM_000090.3(COL3A1):c.2708G>A:p.Gly903Glu	coding	Pathogenic
2	189004046	G	T	G189004046T	COL3A1	NM_000090.3(COL3A1):c.2726G>T:p.Gly909Val	coding	Pathogenic
2	189004055	G	A	G189004055A	COL3A1	NM_000090.3(COL3A1):c.2735G>A:p.Gly912Asp	coding	Pathogenic
2	189004073	G	A	G189004073A	COL3A1	NM_000090.3(COL3A1):c.2753G>A:p.Gly918Glu	coding	Pathogenic
2	189004090	G	A	G189004090A	COL3A1	NM_000090.3(COL3A1):c.2770G>A:p.Gly924Ser	coding	Pathogenic
2	189004090	G	T	G189004090T	COL3A1	NM_000090.3(COL3A1):c.2770G>T:p.Gly924Cys	coding	Pathogenic
2	189004091	G	A	G189004091A	COL3A1	NM_000090.3(COL3A1):c.2771G>A:p.Gly924Asp	coding	Pathogenic
2	189004091	G	T	G189004091T	COL3A1	NM_000090.3(COL3A1):c.2771G>T:p.Gly924Val	coding	Pathogenic
2	189004100	G	A	G189004100A	COL3A1	NM_000090.3(COL3A1):c.2780G>A:p.Gly927Asp	coding	Pathogenic
2	189004125	T	C	T189004125C	COL3A1	NM_000090.3(COL3A1):c.2805T>C:p.Pro935=	coding	Benign/Likely_benign
2	189004126	G	C	G189004126C	COL3A1	NM_000090.3(COL3A1):c.2806G>C:p.Gly936Arg	coding	Pathogenic
2	189004135	G	A	G189004135A	COL3A1	NM_000090.3(COL3A1):c.2815G>A:p.Gly939Ser	coding	Pathogenic
2	189004144	G	A	G189004144A	COL3A1	NM_000090.3(COL3A1):c.2823+1G>A:p.Gly942Valfs*28	coding	Pathogenic
2	189004256	G	A	G189004256A	COL3A1	NM_000090.3(COL3A1):c.2824-1G>A:p.Gly942Glufs*294	noncoding	Pathogenic
2	189004258	G	A	G189004258A	COL3A1	NM_000090.3(COL3A1):c.2825G>A:p.Gly942Glu	coding	Pathogenic
2	189004275	G	A	G189004275A	COL3A1	NM_000090.3(COL3A1):c.2842G>A:p.Gly948Arg	coding	Pathogenic
2	189004293	G	A	G189004293A	COL3A1	NM_000090.3(COL3A1):c.2860G>A:p.Gly954Arg	coding	Pathogenic
2	189004294	G	A	G189004294A	COL3A1	NM_000090.3(COL3A1):c.2861G>A:p.Gly954Glu	coding	Pathogenic
2	189004302	G	T	G189004302T	COL3A1	NM_000090.3(COL3A1):c.2869G>T:p.Gly957Cys	coding	Pathogenic
2	189004303	G	A	G189004303A	COL3A1	NM_000090.3(COL3A1):c.2870G>A:p.Gly957Asp	coding	Pathogenic
2	189004303	G	T	G189004303T	COL3A1	NM_000090.3(COL3A1):c.2870G>T:p.Gly957Val	coding	Pathogenic
2	189004312	G	T	G189004312T	COL3A1	NM_000090.3(COL3A1):c.2879G>T:p.Gly960Val	coding	Pathogenic
2	189004320	G	C	G189004320C	COL3A1	NM_000090.3(COL3A1):c.2887G>C:p.Gly963Arg	coding	Pathogenic
2	189004320	G	T	G189004320T	COL3A1	NM_000090.3(COL3A1):c.2887G>T:p.Gly963Cys	coding	Pathogenic
2	189004321	G	A	G189004321A	COL3A1	NM_000090.3(COL3A1):c.2888G>A:p.Gly963Asp	coding	Pathogenic
2	189004321	G	T	G189004321T	COL3A1	NM_000090.4(COL3A1):c.2888G>T:p.Gly963Val	coding	Pathogenic
2	189004330	G	T	G189004330T	COL3A1	NM_000090.3(COL3A1):c.2897G>T:p.Gly966Val	coding	Pathogenic
2	189004338	G	A	G189004338A	COL3A1	NM_000090.3(COL3A1):c.2905G>A:p.Gly969Arg	coding	Pathogenic
2	189004348	G	A	G189004348A	COL3A1	NM_000090.3(COL3A1):c.2915G>A:p.Gly972Asp	coding	Pathogenic
2	189004348	G	C	G189004348C	COL3A1	NM_000090.3(COL3A1):c.2915G>C:p.Gly972Ala	coding	Pathogenic
2	189004357	G	T	G189004357T	COL3A1	NM_000090.3(COL3A1):c.2924G>T:p.Gly975Val	coding	Pathogenic
2	189004365	G	A	G189004365A	COL3A1	NM_000090.3(COL3A1):c.2931+1G>A:p.Gly942_Lys977del	coding	Pathogenic
2	189005350	G	A	G189005350A	COL3A1	NM_000090.4(COL3A1):c.2932G>A:p.Gly978Ser	coding	Pathogenic
2	189005351	G	A	G189005351A	COL3A1	NM_000090.3(COL3A1):c.2933G>A:p.Gly978Asp	coding	Pathogenic
2	189005353	G	T	G189005353T	COL3A1	NM_000090.3(COL3A1):c.2935G>T:p.Glu979Ter	coding	Pathogenic
2	189005359	G	A	G189005359A	COL3A1	NM_000090.3(COL3A1):c.2941G>A:p.Gly981Arg	coding	Pathogenic
2	189005359	G	C	G189005359C	COL3A1	NM_000090.3(COL3A1):c.2941G>C:p.Gly981Arg	coding	Pathogenic
2	189005376	C	T	C189005376T	COL3A1	NM_000090.3(COL3A1):c.2958C>T:p.Asn986=	coding	Benign/Likely_benign
2	189005377	G	A	G189005377A	COL3A1	NM_000090.3(COL3A1):c.2959G>A:p.Gly987Ser	coding	Pathogenic
2	189005395	G	T	G189005395T	COL3A1	NM_000090.3(COL3A1):c.2977G>T:p.Gly993Cys	coding	Pathogenic
2	189005396	G	A	G189005396A	COL3A1	NM_000090.3(COL3A1):c.2978G>A:p.Gly993Asp	coding	Pathogenic
2	189005405	G	A	G189005405A	COL3A1	NM_000090.3(COL3A1):c.2987G>A:p.Gly996Glu	coding	Pathogenic
2	189005413	G	A	G189005413A	COL3A1	NM_000090.3(COL3A1):c.2995G>A:p.Gly999Ser	coding	Pathogenic
2	189005413	G	C	G189005413C	COL3A1	NM_000090.3(COL3A1):c.2995G>C:p.Gly999Arg	coding	Pathogenic
2	189005441	G	A	G189005441A	COL3A1	NM_000090.3(COL3A1):c.3023G>A:p.Gly1008Asp	coding	Pathogenic
2	189005450	G	A	G189005450A	COL3A1	NM_000090.3(COL3A1):c.3032G>A:p.Gly1011Glu	coding	Pathogenic
2	189005458	G	A	G189005458A	COL3A1	NM_000090.3(COL3A1):c.3039+1G>A:p.Asp1013_Gly1014insMSSSFYSTSQ	coding	Pathogenic
2	189005462	G	A	G189005462A	COL3A1	NM_000090.3(COL3A1):c.3039+5G>A:p.Asp1013_Gly1014insVNSSFYSTSQ	noncoding	Pathogenic
2	189005463	T	C	T189005463C	COL3A1	NM_000090.3(COL3A1):c.3039+6T>C:p.Asp1013_Gly1014insVSSSFYSTSQ	noncoding	Pathogenic
2	189005473	T	G	T189005473G	COL3A1	NM_000090.3(COL3A1):c.3039+16T>G	noncoding	Benign
2	189006207	G	A	G189006207A	COL3A1	NM_000090.3(COL3A1):c.3041G>A:p.Gly1014Glu	coding	Pathogenic
2	189006227	C	A	C189006227A	COL3A1	NM_000090.3(COL3A1):c.3061C>A:p.Leu1021Ile	coding	Benign/Likely_benign
2	189006236	C	T	C189006236T	COL3A1	NM_000090.3(COL3A1):c.3070C>T:p.Arg1024Ter	coding	Pathogenic
2	189006260	G	A	G189006260A	COL3A1	NM_000090.3(COL3A1):c.3093+1G>A	coding	Pathogenic
2	189006261	T	C	T189006261C	COL3A1	NM_000090.3(COL3A1):c.3093+2T>C:p.Gly1014_Lys1031del	noncoding	Pathogenic
2	189006261	T	G	T189006261G	COL3A1	NM_000090.3(COL3A1):c.3093+2T>G:p.Gly1014_Lys1031del	noncoding	Pathogenic
2	189006346	G	T	G189006346T	COL3A1	NM_000090.3(COL3A1):c.3095G>T:p.Gly1032Val	coding	Pathogenic
2	189006355	G	T	G189006355T	COL3A1	NM_000090.3(COL3A1):c.3104G>T:p.Gly1035Val	coding	Pathogenic
2	189006363	G	C	G189006363C	COL3A1	NM_000090.3(COL3A1):c.3112G>C:p.Gly1038Arg	coding	Pathogenic/Likely_pathogenic
2	189006373	G	T	G189006373T	COL3A1	NM_000090.3(COL3A1):c.3122G>T:p.Gly1041Val	coding	Pathogenic
2	189006383	C	T	C189006383T	COL3A1	NM_000090.3(COL3A1):c.3132C>T:p.Gly1044=	coding	Benign/Likely_benign
2	189006391	G	A	G189006391A	COL3A1	NM_000090.3(COL3A1):c.3140G>A:p.Gly1047Asp	coding	Pathogenic
2	189006400	G	A	G189006400A	COL3A1	NM_000090.3(COL3A1):c.3149G>A:p.Gly1050Asp	coding	Pathogenic
2	189006400	G	T	G189006400T	COL3A1	NM_000090.3(COL3A1):c.3149G>T:p.Gly1050Val	coding	Pathogenic
2	189006408	G	C	G189006408C	COL3A1	NM_000090.3(COL3A1):c.3157G>C:p.Gly1053Arg	coding	Pathogenic
2	189006418	G	A	G189006418A	COL3A1	NM_000090.3(COL3A1):c.3167G>A:p.Gly1056Asp	coding	Pathogenic
2	189006427	G	T	G189006427T	COL3A1	NM_000090.3(COL3A1):c.3176G>T:p.Gly1059Val	coding	Pathogenic
2	189006444	G	A	G189006444A	COL3A1	NM_000090.3(COL3A1):c.3193G>A:p.Gly1065Arg	coding	Pathogenic
2	189006445	G	A	G189006445A	COL3A1	NM_000090.3(COL3A1):c.3194G>A:p.Gly1065Glu	coding	Pathogenic
2	189006847	A	G	A189006847G	COL3A1	NM_000090.3(COL3A1):c.3202-90A>G	noncoding	Benign
2	189006897	G	A	G189006897A	COL3A1	NM_000090.3(COL3A1):c.3202-40G>A	noncoding	Benign
2	189006901	C	T	C189006901T	COL3A1	NM_000090.3(COL3A1):c.3202-36C>T	noncoding	Benign
2	189006938	G	T	G189006938T	COL3A1	NM_000090.3(COL3A1):c.3203G>T:p.Gly1068Val	coding	Pathogenic
2	189006947	G	T	G189006947T	COL3A1	NM_000090.3(COL3A1):c.3212G>T:p.Gly1071Val	coding	Pathogenic/Likely_pathogenic
2	189006955	G	A	G189006955A	COL3A1	NM_000090.3(COL3A1):c.3220G>A:p.Gly1074Ser	coding	Pathogenic
2	189006963	C	T	C189006963T	COL3A1	NM_000090.3(COL3A1):c.3228C>T:p.Pro1076=	coding	Benign/Likely_benign
2	189006965	G	T	G189006965T	COL3A1	NM_000090.3(COL3A1):c.3230G>T:p.Gly1077Val	coding	Pathogenic
2	189006974	G	A	G189006974A	COL3A1	NM_000090.3(COL3A1):c.3239G>A:p.Gly1080Asp	coding	Pathogenic
2	189006991	G	A	G189006991A	COL3A1	NM_000090.3(COL3A1):c.3255+1G>A:p.Gly1068_Pro1085del	coding	Pathogenic
2	189006991	G	C	G189006991C	COL3A1	NM_000090.3(COL3A1):c.3255+1G>C	coding	Pathogenic
2	189006995	G	A	G189006995A	COL3A1	NM_000090.3(COL3A1):c.3255+5G>A:p.Gly1068_Pro1085del	noncoding	Pathogenic
2	189007472	G	A	G189007472A	COL3A1	NM_000090.3(COL3A1):c.3256-28G>A	noncoding	Benign
2	189007501	G	T	G189007501T	COL3A1	NM_000090.3(COL3A1):c.3257G>T:p.Gly1086Val	coding	Pathogenic
2	189007510	G	A	G189007510A	COL3A1	NM_000090.3(COL3A1):c.3266G>A:p.Gly1089Asp	coding	Pathogenic
2	189007519	G	T	G189007519T	COL3A1	NM_000090.3(COL3A1):c.3275G>T:p.Gly1092Val	coding	Pathogenic
2	189007528	G	A	G189007528A	COL3A1	NM_000090.3(COL3A1):c.3284G>A:p.Gly1095Asp	coding	Pathogenic
2	189007537	G	T	G189007537T	COL3A1	NM_000090.3(COL3A1):c.3293G>T:p.Gly1098Val	coding	Pathogenic
2	189007545	G	A	G189007545A	COL3A1	NM_000090.3(COL3A1):c.3301G>A:p.Gly1101Arg	coding	Pathogenic
2	189007546	G	A	G189007546A	COL3A1	NM_000090.3(COL3A1):c.3302G>A:p.Gly1101Glu	coding	Pathogenic
2	189007569	C	T	C189007569T	COL3A1	NM_000090.3(COL3A1):c.3325C>T:p.Arg1109Ter	coding	Pathogenic
2	189007580	T	C	T189007580C	COL3A1	NM_000090.3(COL3A1):c.3336T>C:p.Pro1112=	coding	Benign
2	189007591	G	T	G189007591T	COL3A1	NM_000090.3(COL3A1):c.3347G>T:p.Gly1116Val	coding	Pathogenic
2	189007628	G	C	G189007628C	COL3A1	NM_000090.3(COL3A1):c.3363+21G>C	noncoding	Benign
2	189007883	A	C	A189007883C	COL3A1	NM_000090.3(COL3A1):c.3364-2A>C:p.Gly1122_Arg1139del	noncoding	Pathogenic
2	189007911	C	T	C189007911T	COL3A1	NM_000090.3(COL3A1):c.3390C>T:p.Ile1130=	coding	Benign/Likely_benign
2	189007912	G	A	G189007912A	COL3A1	NM_000090.3(COL3A1):c.3391G>A:p.Gly1131Ser	coding	Pathogenic
2	189007931	G	A	G189007931A	COL3A1	NM_000090.3(COL3A1):c.3410G>A:p.Gly1137Asp	coding	Pathogenic
2	189007939	G	A	G189007939A	COL3A1	NM_000090.3(COL3A1):c.3417+1G>A:p.Gly1122_Arg1139del+	coding	Pathogenic
2	189007939	G	C	G189007939C	COL3A1	NM_000090.3(COL3A1):c.3417+1G>C:p.Gly1122_Arg1139del+	coding	Pathogenic
2	189007939	G	T	G189007939T	COL3A1	NM_000090.3(COL3A1):c.3417+1G>T:p.Gly1122_Arg1139del+	coding	Pathogenic
2	189007943	G	A	G189007943A	COL3A1	NM_000090.3(COL3A1):c.3417+5G>A:p.Gly1122_Arg1139del+	noncoding	Pathogenic
2	189008033	A	G	A189008033G	COL3A1	NM_000090.3(COL3A1):c.3418-2A>G:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW	noncoding	Pathogenic
2	189008033	A	T	A189008033T	COL3A1	NM_000090.3(COL3A1):c.3418-2A>T:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL	noncoding	Pathogenic
2	189008034	G	T	G189008034T	COL3A1	NM_000090.3(COL3A1):c.3418-1G>T:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY	noncoding	Pathogenic
2	189008036	G	A	G189008036A	COL3A1	NM_000090.3(COL3A1):c.3419G>A:p.Gly1140Glu	coding	Pathogenic
2	189008090	G	A	G189008090A	COL3A1	NM_000090.3(COL3A1):c.3473G>A:p.Gly1158Asp	coding	Pathogenic
2	189008099	G	T	G189008099T	COL3A1	NM_000090.3(COL3A1):c.3482G>T:p.Gly1161Val	coding	Pathogenic
2	189008107	G	A	G189008107A	COL3A1	NM_000090.3(COL3A1):c.3490G>A:p.Gly1164Arg	coding	Pathogenic
2	189008107	G	C	G189008107C	COL3A1	NM_000090.3(COL3A1):c.3490G>C:p.Gly1164Arg	coding	Pathogenic
2	189008107	G	T	G189008107T	COL3A1	NM_000090.3(COL3A1):c.3490G>T:p.Gly1164Trp	coding	Pathogenic
2	189008108	G	T	G189008108T	COL3A1	NM_000090.3(COL3A1):c.3491G>T:p.Gly1164Val	coding	Pathogenic
2	189008113	C	T	C189008113T	COL3A1	NM_000090.3(COL3A1):c.3496C>T:p.Arg1166Ter	coding	Pathogenic
2	189008116	G	A	G189008116A	COL3A1	NM_000090.3(COL3A1):c.3499G>A:p.Gly1167Ser	coding	Pathogenic
2	189008116	G	C	G189008116C	COL3A1	NM_000090.3(COL3A1):c.3499G>C:p.Gly1167Arg	coding	Pathogenic
2	189008116	G	T	G189008116T	COL3A1	NM_000090.3(COL3A1):c.3499G>T:p.Gly1167Cys	coding	Pathogenic
2	189008117	G	A	G189008117A	COL3A1	NM_000090.3(COL3A1):c.3500G>A:p.Gly1167Asp	coding	Pathogenic/Likely_pathogenic
2	189008117	G	T	G189008117T	COL3A1	NM_000090.3(COL3A1):c.3500G>T:p.Gly1167Val	coding	Pathogenic
2	189008125	G	A	G189008125A	COL3A1	NM_000090.3(COL3A1):c.3508G>A:p.Gly1170Ser	coding	Pathogenic
2	189008126	G	A	G189008126A	COL3A1	NM_000090.3(COL3A1):c.3509G>A:p.Gly1170Asp	coding	Pathogenic
2	189008126	G	T	G189008126T	COL3A1	NM_000090.3(COL3A1):c.3509G>T:p.Gly1170Val	coding	Pathogenic
2	189008134	G	A	G189008134A	COL3A1	NM_000090.3(COL3A1):c.3517G>A:p.Gly1173Arg	coding	Pathogenic
2	189008135	G	T	G189008135T	COL3A1	NM_000090.3(COL3A1):c.3518G>T:p.Gly1173Val	coding	Pathogenic
2	189008161	G	A	G189008161A	COL3A1	NM_000090.3(COL3A1):c.3525+19G>A	noncoding	Benign
2	189008165	G	C	G189008165C	COL3A1	NM_000090.3(COL3A1):c.3525+23G>C	noncoding	Benign
2	189008925	G	A	G189008925A	COL3A1	NM_000090.3(COL3A1):c.3527G>A:p.Gly1176Asp	coding	Pathogenic
2	189008925	G	T	G189008925T	COL3A1	NM_000090.4(COL3A1):c.3527G>T:p.Gly1176Val	coding	Pathogenic
2	189008933	G	C	G189008933C	COL3A1	NM_000090.3(COL3A1):c.3535G>C:p.Gly1179Arg	coding	Pathogenic
2	189008934	G	T	G189008934T	COL3A1	NM_000090.3(COL3A1):c.3536G>T:p.Gly1179Val	coding	Pathogenic
2	189008935	C	A	C189008935A	COL3A1	NM_000090.3(COL3A1):c.3537C>A:p.Gly1179=	coding	Benign/Likely_benign
2	189008942	G	A	G189008942A	COL3A1	NM_000090.3(COL3A1):c.3544G>A:p.Gly1182Arg	coding	Pathogenic
2	189008942	G	C	G189008942C	COL3A1	NM_000090.3(COL3A1):c.3544G>C:p.Gly1182Arg	coding	Pathogenic
2	189008943	G	A	G189008943A	COL3A1	NM_000090.3(COL3A1):c.3545G>A:p.Gly1182Glu	coding	Pathogenic
2	189008943	G	T	G189008943T	COL3A1	NM_000090.3(COL3A1):c.3545G>T:p.Gly1182Val	coding	Pathogenic
2	189008952	G	T	G189008952T	COL3A1	NM_000090.3(COL3A1):c.3554G>T:p.Gly1185Val	coding	Pathogenic
2	189008960	G	A	G189008960A	COL3A1	NM_000090.3(COL3A1):c.3562G>A:p.Gly1188Arg	coding	Pathogenic
2	189008961	G	A	G189008961A	COL3A1	NM_000090.3(COL3A1):c.3563G>A:p.Gly1188Glu	coding	Pathogenic
2	189008970	G	A	G189008970A	COL3A1	NM_000090.3(COL3A1):c.3572G>A:p.Gly1191Asp	coding	Pathogenic
2	189009011	A	G	A189009011G	COL3A1	NM_000090.4(COL3A1):c.3613A>G:p.Ile1205Val	coding	Benign
2	189009040	C	A	C189009040A	COL3A1	NM_000090.3(COL3A1):c.3642C>A:p.Gly1214=	coding	Benign/Likely_benign
2	189009052	G	T	G189009052T	COL3A1	NM_000090.3(COL3A1):c.3654G>T:p.Pro1218=	coding	Benign
2	189009172	C	T	C189009172T	COL3A1	NM_000090.3(COL3A1):c.3774C>T:p.Pro1258=	coding	Benign/Likely_benign
2	189009175	T	C	T189009175C	COL3A1	NM_000090.3(COL3A1):c.3777T>C:p.Ala1259=	coding	Benign/Likely_benign
2	189010147	C	A	C189010147A	COL3A1	NM_000090.3(COL3A1):c.3824-31C>A	noncoding	Benign
2	189010187	G	A	G189010187A	COL3A1	NM_000090.3(COL3A1):c.3833G>A:p.Trp1278Ter	coding	Pathogenic
2	189010201	C	T	C189010201T	COL3A1	NM_000090.3(COL3A1):c.3847C>T:p.Gln1283Ter	coding	Pathogenic
2	189010217	A	T	A189010217T	COL3A1	NM_000090.3(COL3A1):c.3863A>T:p.Asp1288Val	coding	Pathogenic
2	189010320	G	A	G189010320A	COL3A1	NM_000090.3(COL3A1):c.3966G>A:p.Glu1322=	coding	Benign/Likely_benign
2	189010366	G	T	G189010366T	COL3A1	NM_000090.3(COL3A1):c.4011+1G>T	coding	Pathogenic
2	189010373	A	C	A189010373C	COL3A1	NM_000090.3(COL3A1):c.4011+8A>C	noncoding	Benign
2	189010399	A	G	A189010399G	COL3A1	NM_000090.3(COL3A1):c.4011+34A>G	noncoding	Benign/Likely_benign
2	189010695	T	G	T189010695G	COL3A1	NM_000090.4(COL3A1):c.4059T>G:p.His1353Gln	coding	Benign
2	189010708	C	T	C189010708T	COL3A1	NM_000090.3(COL3A1):c.4072C>T:p.Arg1358Ter	coding	Pathogenic
2	189010723	C	T	C189010723T	COL3A1	NM_000090.3(COL3A1):c.4087C>T:p.Arg1363Ter	coding	Pathogenic/Likely_pathogenic
2	189010890	G	A	G189010890A	COL3A1	NM_000090.3(COL3A1):c.4254G>A:p.Thr1418=	coding	Pathogenic
2	189011362	G	A	G189011362A	COL3A1	NM_000090.3(COL3A1):c.4255-266G>A	noncoding	Benign
2	189011640	G	T	G189011640T	COL3A1	NM_000090.3(COL3A1):c.4267G>T:p.Glu1423Ter	coding	Pathogenic
2	189011646	A	G	A189011646G	COL3A1	NM_000090.3(COL3A1):c.4273A>G:p.Ser1425Gly	coding	Benign/Likely_benign
2	189011772	T	C	T189011772C	COL3A1	NM_000090.3(COL3A1):c.4399T>C:p.Ter1467Gln	coding	Pathogenic
2	189011808	T	G	T189011808G	COL3A1	NM_000090.3(COL3A1):c.*34T>G	noncoding	Benign
2	189011817	A	G	A189011817G	COL3A1	NM_000090.3(COL3A1):c.*43A>G	noncoding	Benign
2	189011862	C	T	C189011862T	COL3A1	NM_000090.3(COL3A1):c.*88C>T	noncoding	Benign
2	189012128	C	T	C189012128T	COL3A1	NM_000090.3(COL3A1):c.*354C>T	noncoding	Benign
2	189012366	T	A	T189012366A	COL3A1	NM_000090.3(COL3A1):c.*592T>A	noncoding	Benign
2	189012396	T	C	T189012396C	COL3A1	NM_000090.3(COL3A1):c.*622T>C	noncoding	Benign
2	189012448	G	A	G189012448A	COL3A1	NM_000090.3(COL3A1):c.*674G>A	noncoding	Benign
2	189012602	G	T	G189012602T	COL3A1	NM_000090.4(COL3A1):c.*828G>T	noncoding	Benign
2	189031939	A	T	A189031939T	COL5A2	NM_000393.5(COL5A2):c.*2131T>A	noncoding	Benign/Likely_benign
2	189032008	C	T	C189032008T	COL5A2	NM_000393.5(COL5A2):c.*2062G>A	noncoding	Benign/Likely_benign
2	189032110	T	C	T189032110C	COL5A2	NM_000393.5(COL5A2):c.*1960A>G	noncoding	Benign/Likely_benign
2	189032166	G	A	G189032166A	COL5A2	NM_000393.5(COL5A2):c.*1904C>T	noncoding	Benign/Likely_benign
2	189032218	A	G	A189032218G	COL5A2	NM_000393.5(COL5A2):c.*1852T>C	noncoding	Benign/Likely_benign
2	189032401	C	T	C189032401T	COL5A2	NM_000393.5(COL5A2):c.*1669G>A	noncoding	Benign/Likely_benign
2	189032668	A	C	A189032668C	COL5A2	NM_000393.5(COL5A2):c.*1402T>G	noncoding	Benign/Likely_benign
2	189032670	T	C	T189032670C	COL5A2	NM_000393.5(COL5A2):c.*1400A>G	noncoding	Benign/Likely_benign
2	189032691	T	C	T189032691C	COL5A2	NM_000393.5(COL5A2):c.*1379A>G	noncoding	Benign/Likely_benign
2	189032905	C	T	C189032905T	COL5A2	NM_000393.5(COL5A2):c.*1165G>A	noncoding	Benign/Likely_benign
2	189032994	C	T	C189032994T	COL5A2	NM_000393.5(COL5A2):c.*1076G>A	noncoding	Benign/Likely_benign
2	189033272	T	C	T189033272C	COL5A2	NM_000393.5(COL5A2):c.*798A>G	noncoding	Benign/Likely_benign
2	189033431	C	T	C189033431T	COL5A2	NM_000393.5(COL5A2):c.*639G>A	noncoding	Benign/Likely_benign
2	189033509	A	G	A189033509G	COL5A2	NM_000393.5(COL5A2):c.*561T>C	noncoding	Benign/Likely_benign
2	189033545	T	C	T189033545C	COL5A2	NM_000393.5(COL5A2):c.*525A>G	noncoding	Benign
2	189033555	G	A	G189033555A	COL5A2	NM_000393.5(COL5A2):c.*515C>T	noncoding	Benign/Likely_benign
2	189033594	A	G	A189033594G	COL5A2	NM_000393.5(COL5A2):c.*476T>C	noncoding	Benign
2	189033624	C	T	C189033624T	COL5A2	NM_000393.5(COL5A2):c.*446G>A	noncoding	Benign/Likely_benign
2	189033634	T	C	T189033634C	COL5A2	NM_000393.5(COL5A2):c.*436A>G	noncoding	Benign
2	189033647	G	A	G189033647A	COL5A2	NM_000393.5(COL5A2):c.*423C>T	noncoding	Benign/Likely_benign
2	189033678	A	G	A189033678G	COL5A2	NM_000393.5(COL5A2):c.*392T>C	noncoding	Benign/Likely_benign
2	189033679	T	C	T189033679C	COL5A2	NM_000393.5(COL5A2):c.*391A>G	noncoding	Benign/Likely_benign
2	189033772	C	T	C189033772T	COL5A2	NM_000393.5(COL5A2):c.*298G>A	noncoding	Benign/Likely_benign
2	189034024	G	T	G189034024T	COL5A2	NM_000393.5(COL5A2):c.*46C>A	noncoding	Benign/Likely_benign
2	189034121	G	A	G189034121A	COL5A2	NM_000393.5(COL5A2):c.4449C>T:p.Gly1483=	coding	Benign/Likely_benign
2	189034181	T	C	T189034181C	COL5A2	NM_000393.5(COL5A2):c.4389A>G:p.Glu1463=	coding	Benign/Likely_benign
2	189034815	T	C	T189034815C	COL5A2	NM_000393.5(COL5A2):c.4353+101A>G	noncoding	Benign
2	189034846	T	C	T189034846C	COL5A2	NM_000393.5(COL5A2):c.4353+70A>G	noncoding	Benign
2	189035029	C	T	C189035029T	COL5A2	NM_000393.5(COL5A2):c.4240G>A:p.Asp1414Asn	coding	Benign/Likely_benign
2	189035072	C	T	C189035072T	COL5A2	NM_000393.5(COL5A2):c.4197G>A:p.Gln1399=	coding	Benign/Likely_benign
2	189035166	A	G	A189035166G	COL5A2	NM_000393.5(COL5A2):c.4114-11T>C	noncoding	Benign/Likely_benign
2	189035367	C	T	C189035367T	COL5A2	NM_000393.5(COL5A2):c.4114-212G>A	noncoding	Benign
2	189036334	C	T	C189036334T	COL5A2	NM_000393.5(COL5A2):c.4113+282G>A	noncoding	Benign
2	189036393	C	A	C189036393A	COL5A2	NM_000393.5(COL5A2):c.4113+223G>T	noncoding	Benign
2	189036569	G	A	G189036569A	COL5A2	NM_000393.5(COL5A2):c.4113+47C>T	noncoding	Benign
2	189039360	A	G	A189039360G	COL5A2	NM_000393.5(COL5A2):c.3837T>C:p.Ile1279=	coding	Benign/Likely_benign
2	189039477	A	G	A189039477G	COL5A2	NM_000393.5(COL5A2):c.3720T>C:p.Tyr1240=	coding	Benign/Likely_benign
2	189039507	T	G	T189039507G	COL5A2	NM_000393.5(COL5A2):c.3690A>C:p.Thr1230=	coding	Benign/Likely_benign
2	189039508	G	C	G189039508C	COL5A2	NM_000393.5(COL5A2):c.3689C>G:p.Thr1230Arg	coding	Benign/Likely_benign
2	189041468	C	T	C189041468T	COL5A2	NM_000393.5(COL5A2):c.3633+118G>A	noncoding	Benign
2	189042017	G	A	G189042017A	COL5A2	NM_000393.5(COL5A2):c.3526-324C>T	noncoding	Benign
2	189043089	G	A	G189043089A	COL5A2	NM_000393.5(COL5A2):c.3471+62C>T	noncoding	Benign
2	189043157	G	A	G189043157A	COL5A2	NM_000393.5(COL5A2):c.3465C>T:p.Gly1155=	coding	Benign
2	189043177	C	G	C189043177G	COL5A2	NM_000393.5(COL5A2):c.3445G>C:p.Gly1149Arg	coding	Pathogenic
2	189043275	G	A	G189043275A	COL5A2	NM_000393.5(COL5A2):c.3364-17C>T	noncoding	Benign/Likely_benign
2	189045800	C	T	C189045800T	COL5A2	NM_000393.5(COL5A2):c.3309G>A:p.Pro1103=	coding	Pathogenic
2	189048264	T	C	T189048264C	COL5A2	NM_000393.5(COL5A2):c.3148-2A>G	noncoding	Pathogenic
2	189048547	C	T	C189048547T	COL5A2	NM_000393.5(COL5A2):c.3148-285G>A	noncoding	Benign
2	189049022	T	C	T189049022C	COL5A2	NM_000393.5(COL5A2):c.3147+325A>G	noncoding	Benign
2	189049396	G	A	G189049396A	COL5A2	NM_000393.5(COL5A2):c.3098C>T:p.Pro1033Leu	coding	Benign/Likely_benign
2	189049619	C	T	C189049619T	COL5A2	NM_000393.5(COL5A2):c.3040-165G>A	noncoding	Benign
2	189050562	T	C	T189050562C	COL5A2	NM_000393.5(COL5A2):c.3039+7A>G	noncoding	Benign
2	189050587	G	A	G189050587A	COL5A2	NM_000393.5(COL5A2):c.3021C>T:p.Pro1007=	coding	Benign/Likely_benign
2	189051384	C	G	C189051384G	COL5A2	NM_000393.5(COL5A2):c.2867G>C:p.Arg956Pro	coding	Benign
2	189051399	C	T	C189051399T	COL5A2	NM_000393.5(COL5A2):c.2852G>A:p.Gly951Glu	coding	Benign/Likely_benign
2	189051464	C	T	C189051464T	COL5A2	NM_000393.5(COL5A2):c.2787G>A:p.Ala929=	coding	Benign/Likely_benign
2	189051486	T	C	T189051486C	COL5A2	NM_000393.5(COL5A2):c.2770-5A>G	noncoding	Benign
2	189051787	T	C	T189051787C	COL5A2	NM_000393.5(COL5A2):c.2770-306A>G	noncoding	Benign
2	189052153	T	A	T189052153A	COL5A2	NM_000393.5(COL5A2):c.2769+19A>T	noncoding	Benign
2	189052229	G	A	G189052229A	COL5A2	NM_000393.5(COL5A2):c.2716-4C>T	noncoding	Benign
2	189052511	T	A	T189052511A	COL5A2	NM_000393.5(COL5A2):c.2715+238A>T	noncoding	Benign
2	189052512	T	A	T189052512A	COL5A2	NM_000393.5(COL5A2):c.2715+237A>T	noncoding	Benign
2	189052513	T	A	T189052513A	COL5A2	NM_000393.5(COL5A2):c.2715+236A>T	noncoding	Benign
2	189052738	A	G	A189052738G	COL5A2	NM_000393.5(COL5A2):c.2715+11T>C	noncoding	Benign
2	189052752	C	T	C189052752T	COL5A2	NM_000393.5(COL5A2):c.2712G>A:p.Pro904=	coding	Benign/Likely_benign
2	189052891	C	T	C189052891T	COL5A2	NM_000393.5(COL5A2):c.2661+20G>A	noncoding	Benign
2	189053010	G	A	G189053010A	COL5A2	NM_000393.5(COL5A2):c.2562C>T:p.Asp854=	coding	Benign/Likely_benign
2	189053032	T	C	T189053032C	COL5A2	NM_000393.5(COL5A2):c.2554-14A>G	noncoding	Benign/Likely_benign
2	189053611	T	C	T189053611C	COL5A2	NM_000393.5(COL5A2):c.2500-134A>G	noncoding	Benign
2	189053896	G	A	G189053896A	COL5A2	NM_000393.5(COL5A2):c.2498C>T:p.Pro833Leu	coding	Benign/Likely_benign
2	189054061	C	T	C189054061T	COL5A2	NM_000393.5(COL5A2):c.2445+98G>A	noncoding	Benign
2	189056988	T	G	T189056988G	COL5A2	NM_000393.5(COL5A2):c.2376A>C:p.Gly792=	coding	Benign/Likely_benign
2	189057032	A	G	A189057032G	COL5A2	NM_000393.5(COL5A2):c.2338-6T>C	noncoding	Benign/Likely_benign
2	189057350	A	T	A189057350T	COL5A2	NM_000393.5(COL5A2):c.2307T>A:p.Ile769=	coding	Benign
2	189058378	A	G	A189058378G	COL5A2	NM_000393.5(COL5A2):c.2229+51T>C	noncoding	Benign
2	189058675	T	C	T189058675C	COL5A2	NM_000393.5(COL5A2):c.2131-148A>G	noncoding	Benign
2	189058708	A	C	A189058708C	COL5A2	NM_000393.5(COL5A2):c.2130+141T>G	noncoding	Benign
2	189060587	G	C	G189060587C	COL5A2	NM_000393.5(COL5A2):c.2085+143C>G	noncoding	Benign
2	189060790	C	T	C189060790T	COL5A2	NM_000393.5(COL5A2):c.2032-7G>A	noncoding	Benign/Likely_benign
2	189060822	T	A	T189060822A	COL5A2	NM_000393.5(COL5A2):c.2032-39A>T	noncoding	Benign
2	189061283	T	C	T189061283C	COL5A2	NM_000393.5(COL5A2):c.2031+279A>G	noncoding	Benign
2	189061561	C	A	C189061561A	COL5A2	NM_000393.5(COL5A2):c.2031+1G>T	noncoding	Pathogenic
2	189062780	C	G	C189062780G	COL5A2	NM_000393.5(COL5A2):c.1977+85G>C	noncoding	Benign
2	189062853	A	C	A189062853C	COL5A2	NM_000393.5(COL5A2):c.1977+12T>G	noncoding	Benign/Likely_benign
2	189062922	G	C	G189062922C	COL5A2	NM_000393.5(COL5A2):c.1924-4C>G	noncoding	Pathogenic
2	189064548	T	C	T189064548C	COL5A2	NM_000393.5(COL5A2):c.1716+9A>G	noncoding	Benign/Likely_benign
2	189064674	G	C	G189064674C	COL5A2	NM_000393.5(COL5A2):c.1618-19C>G	noncoding	Benign/Likely_benign
2	189065000	T	C	T189065000C	COL5A2	NM_000393.5(COL5A2):c.1617+4A>G	noncoding	Pathogenic
2	189066128	G	A	G189066128A	COL5A2	NM_000393.5(COL5A2):c.1563+262C>T	noncoding	Benign
2	189066418	A	G	A189066418G	COL5A2	NM_000393.5(COL5A2):c.1535T>C:p.Val512Ala	coding	Benign/Likely_benign
2	189066517	A	G	A189066517G	COL5A2	NM_000393.5(COL5A2):c.1456-20T>C	noncoding	Benign
2	189066723	C	A	C189066723A	COL5A2	NM_000393.5(COL5A2):c.1455+6G>T	noncoding	Benign/Likely_benign
2	189066723	C	T	C189066723T	COL5A2	NM_000393.5(COL5A2):c.1455+6G>A	noncoding	Benign/Likely_benign
2	189066730	G	T	G189066730T	COL5A2	NM_000393.5(COL5A2):c.1454C>A:p.Pro485Gln	coding	Benign/Likely_benign
2	189068016	G	A	G189068016A	COL5A2	NM_000393.5(COL5A2):c.1400C>T:p.Pro467Leu	coding	Benign/Likely_benign
2	189068038	G	A	G189068038A	COL5A2	NM_000393.5(COL5A2):c.1378C>T:p.Pro460Ser	coding	Benign/Likely_benign
2	189068227	G	A	G189068227A	COL5A2	NM_000393.5(COL5A2):c.1301C>T:p.Thr434Met	coding	Benign/Likely_benign
2	189068855	G	A	G189068855A	COL5A2	NM_000393.5(COL5A2):c.1188C>T:p.Gly396=	coding	Benign
2	189068861	C	T	C189068861T	COL5A2	NM_000393.5(COL5A2):c.1182G>A:p.Ala394=	coding	Benign/Likely_benign
2	189071961	T	G	T189071961G	COL5A2	NM_000393.5(COL5A2):c.1158+79A>C	noncoding	Benign
2	189075378	A	G	A189075378G	COL5A2	NM_000393.5(COL5A2):c.1104+15T>C	noncoding	Benign/Likely_benign
2	189075416	T	G	T189075416G	COL5A2	NM_000393.5(COL5A2):c.1081A>C:p.Met361Leu	coding	Benign/Likely_benign
2	189078540	C	G	C189078540G	COL5A2	NM_000393.5(COL5A2):c.1035G>C:p.Gly345=	coding	Benign/Likely_benign
2	189078578	G	A	G189078578A	COL5A2	NM_000393.5(COL5A2):c.1006-9C>T	noncoding	Benign/Likely_benign
2	189079093	G	A	G189079093A	COL5A2	NM_000393.5(COL5A2):c.975C>T:p.Pro325=	coding	Benign/Likely_benign
2	189079750	C	T	C189079750T	COL5A2	NM_000393.5(COL5A2):c.960+228G>A	noncoding	Benign
2	189080688	G	A	G189080688A	COL5A2	NM_000393.5(COL5A2):c.906+302C>T	noncoding	Benign
2	189081340	T	C	T189081340C	COL5A2	NM_000393.5(COL5A2):c.853-297A>G	noncoding	Benign
2	189083970	G	A	G189083970A	COL5A2	NM_000393.5(COL5A2):c.852+14C>T	noncoding	Benign/Likely_benign
2	189084874	T	C	T189084874C	COL5A2	NM_000393.5(COL5A2):c.798+286A>G	noncoding	Benign
2	189084902	A	G	A189084902G	COL5A2	NM_000393.5(COL5A2):c.798+258T>C	noncoding	Benign
2	189085150	G	A	G189085150A	COL5A2	NM_000393.5(COL5A2):c.798+10C>T	noncoding	Benign
2	189085208	C	T	C189085208T	COL5A2	NM_000393.5(COL5A2):c.750G>A:p.Pro250=	coding	Benign/Likely_benign
2	189086721	C	A	C189086721A	COL5A2	NM_000393.5(COL5A2):c.690+5G>T	noncoding	Pathogenic
2	189088782	C	T	C189088782T	COL5A2	NM_000393.5(COL5A2):c.568-10G>A	noncoding	Benign/Likely_benign
2	189088953	T	G	T189088953G	COL5A2	NM_000393.5(COL5A2):c.568-181A>C	noncoding	Benign
2	189092035	T	C	T189092035C	COL5A2	NM_000393.5(COL5A2):c.567+275A>G	noncoding	Benign
2	189092745	G	A	G189092745A	COL5A2	NM_000393.5(COL5A2):c.457-325C>T	noncoding	Benign
2	189097346	A	T	A189097346T	COL5A2	NM_000393.5(COL5A2):c.403-16T>A	noncoding	Benign
2	189097372	T	C	T189097372C	COL5A2	NM_000393.5(COL5A2):c.403-42A>G	noncoding	Benign
2	189098775	G	A	G189098775A	COL5A2	NM_000393.5(COL5A2):c.370-16C>T	noncoding	Benign/Likely_benign
2	189099060	C	T	C189099060T	COL5A2	NM_000393.5(COL5A2):c.370-301G>A	noncoding	Benign
2	189100165	A	G	A189100165G	COL5A2	NM_000393.5(COL5A2):c.337-26T>C	noncoding	Benign
2	189100449	T	C	T189100449C	COL5A2	NM_000393.5(COL5A2):c.337-310A>G	noncoding	Benign
2	189110068	G	A	G189110068A	COL5A2	NM_000393.5(COL5A2):c.322+157C>T	noncoding	Benign
2	189110232	G	T	G189110232T	COL5A2	NM_000393.5(COL5A2):c.315C>A:p.Thr105=	coding	Benign
2	189110286	C	T	C189110286T	COL5A2	NM_000393.5(COL5A2):c.261G>A:p.Thr87=	coding	Benign/Likely_benign
2	189110298	G	A	G189110298A	COL5A2	NM_000393.5(COL5A2):c.249C>T:p.Ala83=	coding	Benign/Likely_benign
2	189110349	A	G	A189110349G	COL5A2	NM_000393.5(COL5A2):c.198T>C:p.Asn66=	coding	Benign/Likely_benign
2	189110361	A	G	A189110361G	COL5A2	NM_000393.5(COL5A2):c.186T>C:p.Cys62=	coding	Benign/Likely_benign
2	189110461	A	C	A189110461C	COL5A2	NM_000393.5(COL5A2):c.98-12T>G	noncoding	Benign/Likely_benign
2	189110689	T	A	T189110689A	COL5A2	NM_000393.5(COL5A2):c.98-240A>T	noncoding	Benign
2	189179572	G	A	G189179572A	COL5A2	NM_000393.5(COL5A2):c.33C>T:p.Leu11=	coding	Benign/Likely_benign
2	189179638	G	A	G189179638A	COL5A2	NM_000393.5(COL5A2):c.-34C>T	noncoding	Benign/Likely_benign
2	189179654	G	A	G189179654A	COL5A2	NM_000393.5(COL5A2):c.-50C>T	noncoding	Benign/Likely_benign
2	189560748	T	C	T189560748C	SLC40A1	NM_014585.5(SLC40A1):c.*1130A>G	noncoding	Benign
2	189560755	G	A	G189560755A	SLC40A1	NM_014585.5(SLC40A1):c.*1123C>T	noncoding	Benign
2	189561045	A	G	A189561045G	SLC40A1	NM_014585.6(SLC40A1):c.*833T>C	noncoding	Benign
2	189561589	C	A	C189561589A	SLC40A1	NM_014585.5(SLC40A1):c.*289G>T	noncoding	Benign
2	189561828	C	T	C189561828T	SLC40A1	NM_014585.5(SLC40A1):c.*50G>A	noncoding	Benign
2	189561913	T	C	T189561913C	SLC40A1	NM_014585.5(SLC40A1):c.1681A>G:p.Arg561Gly	coding	Benign
2	189561940	C	T	C189561940T	SLC40A1	NM_014585.5(SLC40A1):c.1654G>A:p.Ala552Thr	coding	Benign
2	189562002	A	G	A189562002G	SLC40A1	NM_014585.6(SLC40A1):c.1592T>C:p.Val531Ala	coding	Pathogenic
2	189562025	G	A	G189562025A	SLC40A1	NM_014585.5(SLC40A1):c.1569C>T:p.Leu523=	coding	Benign
2	189562113	C	T	C189562113T	SLC40A1	NM_014585.5(SLC40A1):c.1481G>A:p.Gly494Asp	coding	Pathogenic
2	189562125	C	T	C189562125T	SLC40A1	NM_014585.5(SLC40A1):c.1469G>A:p.Gly490Asp	coding	Pathogenic
2	189563658	G	A	G189563658A	SLC40A1	NM_014585.6(SLC40A1):c.1328C>T:p.Pro443Leu	coding	Benign
2	189563692	T	C	T189563692C	SLC40A1	NM_014585.6(SLC40A1):c.1294A>G:p.Met432Val	coding	Benign
2	189563734	T	C	T189563734C	SLC40A1	NM_014585.5(SLC40A1):c.1252A>G:p.Ile418Val	coding	Benign
2	189563783	G	A	G189563783A	SLC40A1	NM_014585.5(SLC40A1):c.1203C>T:p.Ser401=	coding	Benign
2	189563854	A	G	A189563854G	SLC40A1	NM_014585.5(SLC40A1):c.1132T>C:p.Leu378=	coding	Benign
2	189563937	G	T	G189563937T	SLC40A1	NM_014585.5(SLC40A1):c.1049C>A:p.Ala350Asp	coding	Pathogenic
2	189564018	C	A	C189564018A	SLC40A1	NM_014585.5(SLC40A1):c.968G>T:p.Gly323Val	coding	Pathogenic
2	189564177	T	A	T189564177A	SLC40A1	NM_014585.5(SLC40A1):c.809A>T:p.Asp270Val	coding	Pathogenic
2	189564186	C	T	C189564186T	SLC40A1	NM_014585.5(SLC40A1):c.800G>A:p.Gly267Asp	coding	Pathogenic
2	189565340	T	C	T189565340C	SLC40A1	NM_014585.5(SLC40A1):c.760+14A>G	noncoding	Benign
2	189565370	C	A	C189565370A	SLC40A1	NM_014585.5(SLC40A1):c.744G>T:p.Gln248His	coding	Benign/Likely_benign
2	189565451	A	G	A189565451G	SLC40A1	NM_014585.5(SLC40A1):c.663T>C:p.Val221=	coding	Benign
2	189565468	T	C	T189565468C	SLC40A1	NM_014585.6(SLC40A1):c.646A>G:p.Met216Val	coding	Benign
2	189565488	G	A	G189565488A	SLC40A1	NM_014585.6(SLC40A1):c.626C>T:p.Ser209Leu	coding	Pathogenic
2	189565568	C	A	C189565568A	SLC40A1	NM_014585.5(SLC40A1):c.546G>T:p.Gln182His	coding	Pathogenic
2	189565570	G	C	G189565570C	SLC40A1	NM_014585.5(SLC40A1):c.544C>G:p.Gln182Glu	coding	Pathogenic
2	189565572	T	A	T189565572A	SLC40A1	NM_014585.5(SLC40A1):c.542A>T:p.Asp181Val	coding	Pathogenic
2	189565573	C	T	C189565573T	SLC40A1	NM_014585.5(SLC40A1):c.541G>A:p.Asp181Asn	coding	Pathogenic
2	189565581	C	T	C189565581T	SLC40A1	NM_014585.6(SLC40A1):c.533G>A:p.Arg178Gln	coding	Pathogenic
2	189571750	A	G	A189571750G	SLC40A1	NM_014585.5(SLC40A1):c.479T>C:p.Val160Ala	coding	Pathogenic
2	189571759	T	C	T189571759C	SLC40A1	NM_014585.5(SLC40A1):c.470A>G:p.Asp157Gly	coding	Pathogenic
2	189571799	T	C	T189571799C	SLC40A1	NM_014585.6(SLC40A1):c.430A>G:p.Asn144Asp	coding	Pathogenic
2	189571799	T	G	T189571799G	SLC40A1	NM_014585.5(SLC40A1):c.430A>C:p.Asn144His	coding	Pathogenic
2	189571855	A	T	A189571855T	SLC40A1	NM_014585.5(SLC40A1):c.388-14T>A	noncoding	Benign
2	189572846	G	A	G189572846A	SLC40A1	NM_014585.5(SLC40A1):c.387C>T:p.Leu129=	coding	Benign
2	189572906	G	A	G189572906A	SLC40A1	NM_014585.5(SLC40A1):c.327C>T:p.Ile109=	coding	Benign
2	189575193	C	A	C189575193A	SLC40A1	NM_014585.5(SLC40A1):c.239G>T:p.Gly80Val	coding	Pathogenic
2	189575202	G	T	G189575202T	SLC40A1	NM_014585.5(SLC40A1):c.230C>A:p.Ala77Asp	coding	Pathogenic
2	189575240	G	A	G189575240A	SLC40A1	NM_014585.6(SLC40A1):c.192C>T:p.Tyr64=	coding	Benign
2	189580468	G	C	G189580468C	SLC40A1	NM_014585.5(SLC40A1):c.-8C>G	noncoding	Benign
2	189580483	T	C	T189580483C	SLC40A1	NM_014585.5(SLC40A1):c.-23A>G	noncoding	Benign
2	189580558	C	G	C189580558G	SLC40A1	NM_014585.5(SLC40A1):c.-98G>C	noncoding	Benign
2	189580665	T	G	T189580665G	SLC40A1	NM_014585.5(SLC40A1):c.-205A>C	noncoding	Pathogenic
2	189676766	T	G	T189676766G	ANKAR	NM_144708.3(ANKAR):c.276T>G:p.Thr92=	coding	Benign
2	189676771	T	G	T189676771G	ANKAR	NM_144708.3(ANKAR):c.281T>G:p.Leu94Arg	coding	Benign
2	189689541	A	G	A189689541G	ANKAR	NM_144708.3(ANKAR):c.616A>G:p.Thr206Ala	coding	Benign
2	189693182	G	A	G189693182A	ANKAR	NM_144708.3(ANKAR):c.1307+5G>A	noncoding	Benign
2	189694986	A	C	A189694986C	ANKAR	NM_144708.3(ANKAR):c.1313A>C:p.Tyr438Ser	coding	Benign
2	189707071	A	G	A189707071G	ANKAR	NM_144708.3(ANKAR):c.2044A>G:p.Thr682Ala	coding	Benign
2	189719684	G	A	G189719684A	ANKAR	NM_144708.3(ANKAR):c.2337G>A:p.Leu779=	coding	Benign
2	189728034	C	T	C189728034T	ANKAR	NM_144708.3(ANKAR):c.2814C>T:p.Asn938=	coding	Benign
2	189741426	A	C	A189741426C	ANKAR	NM_144708.3(ANKAR):c.3785A>C:p.Tyr1262Ser	coding	Benign
2	189744778	C	T	C189744778T	ANKAR	NM_144708.3(ANKAR):c.4047C>T:p.Ile1349=	coding	Benign
2	189746578	A	T	A189746578T	ANKAR	NM_144708.3(ANKAR):c.4256A>T:p.Gln1419Leu	coding	Benign
2	189754274	A	G	A189754274G	OSGEPL1	NM_022353.3(OSGEPL1):c.681T>C:p.His227=	coding	Benign
2	189761562	T	G	T189761562G	OSGEPL1	NM_022353.3(OSGEPL1):c.79A>C:p.Asn27His	coding	Benign
2	189795777	T	C	T189795777C	PMS1	NM_000534.5(PMS1):c.141T>C:p.Tyr47=	coding	Benign
2	189795810	G	T	G189795810T	PMS1	NM_000534.5(PMS1):c.174G>T:p.Gly58=	coding	Benign
2	189805681	T	C	T189805681C	PMS1	NM_000534.5(PMS1):c.345T>C:p.Asp115=	coding	Benign
2	189854453	T	C	T189854453C	PMS1	NM_000534.5(PMS1):c.1181T>C:p.Met394Thr	coding	Benign
2	189854773	G	A	G189854773A	PMS1	NM_000534.5(PMS1):c.1501G>A:p.Gly501Arg	coding	Benign
2	189854915	A	G	A189854915G	PMS1	NM_000534.5(PMS1):c.1643A>G:p.Lys548Arg	coding	Benign
2	189867833	T	C	T189867833C	PMS1	NM_000534.5(PMS1):c.2377T>C:p.Tyr793His	coding	Benign
2	189867873	C	G	C189867873G	PMS1	NM_000534.5(PMS1):c.2417C>G:p.Thr806Ser	coding	Benign
2	189877298	A	G	A189877298G	PMS1	NM_000534.5(PMS1):c.2661A>G:p.Gln887=	coding	Benign
2	190055744	G	C	G190055744C	MSTN	NM_005259.3(MSTN):c.*1514C>G	noncoding	Benign
2	190055808	A	G	A190055808G	MSTN	NM_005259.3(MSTN):c.*1450T>C	noncoding	Benign
2	190055896	T	C	T190055896C	MSTN	NM_005259.3(MSTN):c.*1362A>G	noncoding	Benign
2	190055926	T	C	T190055926C	MSTN	NM_005259.3(MSTN):c.*1332A>G	noncoding	Benign
2	190056055	C	G	C190056055G	MSTN	NM_005259.3(MSTN):c.*1203G>C	noncoding	Benign
2	190056516	G	A	G190056516A	MSTN	NM_005259.3(MSTN):c.*742C>T	noncoding	Benign
2	190056765	C	T	C190056765T	MSTN	NM_005259.3(MSTN):c.*493G>A	noncoding	Benign
2	190056863	T	G	T190056863G	MSTN	NM_005259.3(MSTN):c.*395A>C	noncoding	Benign
2	190056968	G	A	G190056968A	MSTN	NM_005259.3(MSTN):c.*290C>T	noncoding	Benign
2	190056985	G	C	G190056985C	MSTN	NM_005259.3(MSTN):c.*273C>G	noncoding	Benign
2	190057123	C	T	C190057123T	MSTN	NM_005259.3(MSTN):c.*135G>A	noncoding	Benign
2	190057218	C	A	C190057218A	MSTN	NM_005259.3(MSTN):c.*40G>T	noncoding	Benign
2	190057588	C	T	C190057588T	MSTN	NM_005259.3(MSTN):c.798G>A:p.Arg266=	coding	Benign
2	190060054	T	C	T190060054C	MSTN	NM_005259.3(MSTN):c.747+8A>G	noncoding	Benign
2	190060135	A	G	A190060135G	MSTN	NM_005259.3(MSTN):c.674T>C:p.Ile225Thr	coding	Benign/Likely_benign
2	190060258	G	A	G190060258A	MSTN	NM_005259.3(MSTN):c.551C>T:p.Thr184Ile	coding	Benign
2	190060319	C	T	C190060319T	MSTN	NM_005259.3(MSTN):c.490G>A:p.Glu164Lys	coding	Benign/Likely_benign
2	190060351	T	C	T190060351C	MSTN	NM_005259.3(MSTN):c.458A>G:p.Lys153Arg	coding	Benign
2	190060423	A	C	A190060423C	MSTN	NM_005259.3(MSTN):c.386T>G:p.Met129Arg	coding	Benign/Likely_benign
2	190062219	C	T	C190062219T	MSTN	NM_005259.3(MSTN):c.373+5G>A	noncoding	Pathogenic
2	190062291	G	A	G190062291A	MSTN	NM_005259.3(MSTN):c.306C>T:p.Ser102=	coding	Benign
2	190062417	G	A	G190062417A	MSTN	NM_005259.3(MSTN):c.180C>T:p.Ile60=	coding	Benign/Likely_benign
2	190062434	C	T	C190062434T	MSTN	NM_005259.3(MSTN):c.163G>A:p.Ala55Thr	coding	Benign
2	190062613	T	G	T190062613G	MSTN	NM_005259.3(MSTN):c.-17A>C	noncoding	Benign
2	190208887	A	T	A190208887T	HIBCH	NM_014362.4(HIBCH):c.1038T>A:p.Val346=	coding	Benign/Likely_benign
2	190208892	C	T	C190208892T	HIBCH	NM_014362.4(HIBCH):c.1033G>A:p.Gly345Ser	coding	Pathogenic
2	190213010	T	C	T190213010C	HIBCH	NM_014362.4(HIBCH):c.957A>G:p.Ser319=	coding	Benign/Likely_benign
2	190213017	C	T	C190213017T	HIBCH	NM_014362.4(HIBCH):c.950G>A:p.Gly317Glu	coding	Pathogenic
2	190244943	C	A	C190244943A	HIBCH	NM_014362.4(HIBCH):c.835G>T:p.Glu279Ter	coding	Pathogenic
2	190246153	C	T	C190246153T	HIBCH	NM_014362.4(HIBCH):c.809+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	190246200	G	A	G190246200A	HIBCH	NM_014362.4(HIBCH):c.763C>T:p.Arg255Ter	coding	Pathogenic
2	190249655	T	G	T190249655G	HIBCH	NM_014362.4(HIBCH):c.735A>C:p.Glu245Asp	coding	Benign
2	190252143	C	A	C190252143A	HIBCH	NM_014362.4(HIBCH):c.663+19G>T	noncoding	Benign
2	190252230	C	A	C190252230A	HIBCH	NM_014362.4(HIBCH):c.595G>T:p.Gly199Ter	coding	Pathogenic
2	190261141	A	T	A190261141T	HIBCH	NM_014362.4(HIBCH):c.517+15T>A	noncoding	Benign
2	190261155	C	T	C190261155T	HIBCH	NM_014362.4(HIBCH):c.517+1G>A	noncoding	Pathogenic
2	190261185	C	A	C190261185A	HIBCH	NM_014362.4(HIBCH):c.488G>T:p.Cys163Phe	coding	Pathogenic
2	190261185	C	G	C190261185G	HIBCH	NM_014362.4(HIBCH):c.488G>C:p.Cys163Ser	coding	Benign
2	190287577	T	A	T190287577A	HIBCH	NM_014362.4(HIBCH):c.438+9A>T	noncoding	Benign/Likely_benign
2	190294607	A	C	A190294607C	HIBCH	NM_014362.4(HIBCH):c.243T>G:p.Thr81=	coding	Benign/Likely_benign
2	190294639	A	C	A190294639C	HIBCH	NM_014362.4(HIBCH):c.220-9T>G	noncoding	Pathogenic
2	190296818	G	A	G190296818A	HIBCH	NM_014362.4(HIBCH):c.214C>T:p.Leu72=	coding	Benign/Likely_benign
2	190296896	T	C	T190296896C	HIBCH	NM_014362.4(HIBCH):c.136A>G:p.Thr46Ala	coding	Benign
2	190296956	G	C	G190296956C	HIBCH	NM_014362.4(HIBCH):c.79-3C>G	noncoding	Pathogenic
2	190319749	A	G	A190319749G	HIBCH	NM_014362.4(HIBCH):c.2T>C:p.Met1Thr	coding	Benign
2	190319798	C	T	C190319798T	HIBCH	NM_014362.4(HIBCH):c.-48G>A	noncoding	Benign
2	190360201	C	T	C190360201T	INPP1	NM_001128928.2(INPP1):c.99C>T:p.Ile33=	coding	Benign
2	190436190	T	C	T190436190C	MFSD6	NM_017694.4(MFSD6):c.161T>C:p.Ile54Thr	coding	Benign
2	190436227	C	T	C190436227T	MFSD6	NM_017694.4(MFSD6):c.198C>T:p.Asn66=	coding	Benign
2	190436914	C	T	C190436914T	MFSD6	NM_017694.4(MFSD6):c.885C>T:p.Val295=	coding	Benign
2	190436974	G	A	G190436974A	MFSD6	NM_017694.4(MFSD6):c.945G>A:p.Gln315=	coding	Benign
2	190881325	C	T	C190881325T	GLS	NM_014905.4(GLS):c.241C>T:p.Gln81Ter	coding	Pathogenic
2	190902026	G	A	G190902026A	GLS	NM_014905.4(GLS):c.815G>A:p.Arg272Lys	coding	Pathogenic
2	190905126	C	T	C190905126T	GLS	NM_014905.4(GLS):c.938C>T:p.Pro313Leu	coding	Pathogenic
2	190930456	C	G	C190930456G	GLS	NM_014905.4(GLS):c.1445C>G:p.Ser482Cys	coding	Pathogenic
2	190953597	A	C	A190953597C	GLS	NM_014905.5(GLS):c.1683A>C:p.Ala561=	coding	Benign
2	190969304	T	C	T190969304C	STAT1	NM_007315.3(STAT1):c.*1399A>G	noncoding	Benign
2	190969643	T	G	T190969643G	STAT1	NM_007315.3(STAT1):c.*1060A>C	noncoding	Benign
2	190969701	A	G	A190969701G	STAT1	NM_007315.3(STAT1):c.*1002T>C	noncoding	Benign
2	190969761	T	C	T190969761C	STAT1	NM_007315.3(STAT1):c.*942A>G	noncoding	Benign
2	190969926	T	C	T190969926C	STAT1	NM_007315.4(STAT1):c.*777A>G	noncoding	Benign
2	190970042	A	G	A190970042G	STAT1	NM_007315.3(STAT1):c.*661T>C	noncoding	Benign
2	190970168	G	A	G190970168A	STAT1	NM_007315.3(STAT1):c.*535C>T	noncoding	Benign
2	190970339	C	G	C190970339G	STAT1	NM_007315.4(STAT1):c.*364G>C	noncoding	Benign
2	190970549	A	G	A190970549G	STAT1	NM_007315.3(STAT1):c.*154T>C	noncoding	Benign
2	190974932	A	C	A190974932C	STAT1	NM_007315.3(STAT1):c.2136T>G:p.Val712=	coding	Benign
2	190975830	A	G	A190975830G	STAT1	NM_007315.3(STAT1):c.2117T>C:p.Leu706Ser	coding	Pathogenic
2	190976880	T	C	T190976880C	STAT1	NM_007315.3(STAT1):c.2019A>G:p.Lys673=	coding	Benign
2	190976881	T	C	T190976881C	STAT1	NM_007315.3(STAT1):c.2018A>G:p.Lys673Arg	coding	Pathogenic
2	190976990	T	C	T190976990C	STAT1	NM_007315.3(STAT1):c.1909A>G:p.Lys637Glu	coding	Pathogenic
2	190977033	G	A	G190977033A	STAT1	NM_007315.3(STAT1):c.1874-8C>T	noncoding	Benign
2	190978857	G	A	G190978857A	STAT1	NM_007315.3(STAT1):c.1872C>T:p.Gly624=	coding	Benign
2	190978930	A	G	A190978930G	STAT1	NM_007315.3(STAT1):c.1799T>C:p.Leu600Pro	coding	Pathogenic
2	190979759	C	T	C190979759T	STAT1	NM_007315.3(STAT1):c.1727+13G>A	noncoding	Benign
2	190979760	G	A	G190979760A	STAT1	NM_007315.3(STAT1):c.1727+12C>T	noncoding	Benign
2	190983699	C	A	C190983699A	STAT1	NM_007315.3(STAT1):c.1389G>T:p.Gln463His	coding	Pathogenic
2	190984302	A	C	A190984302C	STAT1	NM_007315.3(STAT1):c.1347+8T>G	noncoding	Benign
2	190984343	T	C	T190984343C	STAT1	NM_007315.3(STAT1):c.1314A>G:p.Gln438=	coding	Benign
2	190985612	C	T	C190985612T	STAT1	NM_007315.3(STAT1):c.1263+7G>A	noncoding	Benign/Likely_benign
2	190985625	C	T	C190985625T	STAT1	NM_007315.3(STAT1):c.1257G>A:p.Thr419=	coding	Benign
2	190985669	C	A	C190985669A	STAT1	NM_007315.3(STAT1):c.1222-9G>T	noncoding	Benign
2	190986910	C	G	C190986910G	STAT1	NM_007315.4(STAT1):c.1165G>C:p.Val389Leu	coding	Pathogenic
2	190986920	C	T	C190986920T	STAT1	NM_007315.3(STAT1):c.1155G>A:p.Thr385=	coding	Benign/Likely_benign
2	190986921	G	A	G190986921A	STAT1	NM_007315.3(STAT1):c.1154C>T:p.Thr385Met	coding	Pathogenic
2	190986924	C	T	C190986924T	STAT1	NM_007315.3(STAT1):c.1151G>A:p.Gly384Asp	coding	Pathogenic
2	190987029	C	T	C190987029T	STAT1	NM_007315.3(STAT1):c.1127+10G>A	noncoding	Benign/Likely_benign
2	190987030	G	A	G190987030A	STAT1	NM_007315.4(STAT1):c.1127+9C>T	noncoding	Benign
2	190987050	A	G	A190987050G	STAT1	NM_007315.3(STAT1):c.1116T>C:p.Asn372=	coding	Benign
2	190989605	G	C	G190989605C	STAT1	NM_007315.3(STAT1):c.1097+10C>G	noncoding	Benign
2	190989649	T	C	T190989649C	STAT1	NM_007315.3(STAT1):c.1063A>G:p.Asn355Asp	coding	Pathogenic
2	190991275	C	T	C190991275T	STAT1	NM_007315.3(STAT1):c.990G>A:p.Gln330=	coding	Benign/Likely_benign
2	190991307	C	G	C190991307G	STAT1	NM_007315.3(STAT1):c.958G>C:p.Glu320Gln	coding	Pathogenic
2	190995139	T	C	T190995139C	STAT1	NM_007315.3(STAT1):c.866A>G:p.Tyr289Cys	coding	Pathogenic
2	190995143	T	C	T190995143C	STAT1	NM_007315.3(STAT1):c.862A>G:p.Thr288Ala	coding	Pathogenic
2	190995148	T	A	T190995148A	STAT1	NM_007315.3(STAT1):c.857A>T:p.Lys286Ile	coding	Pathogenic
2	190995151	T	C	T190995151C	STAT1	NM_007315.3(STAT1):c.854A>G:p.Gln285Arg	coding	Pathogenic
2	190995173	T	C	T190995173C	STAT1	NM_139266.2(STAT1):c.832A>G:p.Lys278Glu	coding	Pathogenic
2	190995180	C	T	C190995180T	STAT1	NM_007315.3(STAT1):c.825G>A:p.Gln275=	coding	Benign/Likely_benign
2	190995184	C	T	C190995184T	STAT1	NM_007315.3(STAT1):c.821G>A:p.Arg274Gln	coding	Pathogenic
2	190995185	G	A	G190995185A	STAT1	NM_007315.3(STAT1):c.820C>T:p.Arg274Trp	coding	Pathogenic
2	190995193	T	G	T190995193G	STAT1	NM_007315.3(STAT1):c.812A>C:p.Gln271Pro	coding	Pathogenic
2	190995205	G	A	G190995205A	STAT1	NM_007315.3(STAT1):c.800C>T:p.Ala267Val	coding	Pathogenic
2	190998020	G	A	G190998020A	STAT1	NM_007315.3(STAT1):c.634-13C>T	noncoding	Benign
2	190998211	A	T	A190998211T	STAT1	NM_007315.3(STAT1):c.633+6T>A	noncoding	Benign/Likely_benign
2	190998244	C	T	C190998244T	STAT1	NM_007315.3(STAT1):c.606G>A:p.Met202Ile	coding	Pathogenic
2	190998246	T	C	T190998246C	STAT1	NM_007315.3(STAT1):c.604A>G:p.Met202Val	coding	Pathogenic
2	190998247	C	A	C190998247A	STAT1	NM_007315.3(STAT1):c.603G>T:p.Lys201Asn	coding	Pathogenic
2	190999630	G	T	G190999630T	STAT1	NM_007315.3(STAT1):c.537C>A:p.Asn179Lys	coding	Pathogenic
2	190999659	A	T	A190999659T	STAT1	NM_007315.3(STAT1):c.508T>A:p.Tyr170Asn	coding	Pathogenic
2	190999673	T	C	T190999673C	STAT1	NM_007315.3(STAT1):c.494A>G:p.Asp165Gly	coding	Pathogenic
2	190999674	C	G	C190999674G	STAT1	NM_007315.3(STAT1):c.493G>C:p.Asp165His	coding	Pathogenic
2	190999712	C	G	C190999712G	STAT1	NM_007315.3(STAT1):c.463-8G>C	noncoding	Benign
2	191007581	G	A	G191007581A	STAT1	NM_007315.3(STAT1):c.354C>T:p.Asn118=	coding	Benign
2	191009941	A	G	A191009941G	STAT1	NM_007315.4(STAT1):c.63T>C:p.Leu21=	coding	Benign
2	191013663	C	G	C191013663G	STAT1	NM_007315.3(STAT1):c.-140G>C	noncoding	Benign
2	191014051	G	C	G191014051C	STAT1	NM_007315.4(STAT1):c.-189C>G	noncoding	Benign
2	191014075	G	A	G191014075A	STAT1	NM_007315.3(STAT1):c.-213C>T	noncoding	Benign
2	191014160	G	A	G191014160A	STAT1	NM_007315.3(STAT1):c.-298C>T	noncoding	Benign
2	191014190	G	A	G191014190A	STAT1	NM_007315.3(STAT1):c.-328C>T	noncoding	Benign
2	191036258	A	G	A191036258G	STAT4	NM_003151.4(STAT4):c.1476T>C:p.Ser492=	coding	Benign
2	191039295	G	T	G191039295T	STAT4	NM_003151.4(STAT4):c.1338C>A:p.Thr446=	coding	Benign
2	191041116	G	A	G191041116A	STAT4	NM_003151.4(STAT4):c.1284C>T:p.Ser428=	coding	Benign
2	191058115	G	A	G191058115A	STAT4	NM_003151.4(STAT4):c.1113-4C>T	noncoding	Benign
2	191064800	G	A	G191064800A	STAT4	NM_003151.4(STAT4):c.782+7C>T	noncoding	Benign
2	191076281	T	C	T191076281C	STAT4	NM_003151.4(STAT4):c.318A>G:p.Ser106=	coding	Benign
2	191148090	A	G	A191148090G	STAT4	NM_003151.4(STAT4):c.114T>C:p.Ile38=	coding	Benign
2	191296213	C	T	C191296213T	MYO1B	NM_001130158.3(MYO1B):c.238C>T:p.Leu80=	coding	Benign
2	191390304	G	A	G191390304A	MYO1B	NM_001130158.3(MYO1B):c.1794G>A:p.Pro598=	coding	Benign
2	191396434	A	G	A191396434G	MYO1B	NM_001130158.3(MYO1B):c.2232A>G:p.Gln744=	coding	Benign
2	191402636	G	A	G191402636A	MYO1B	NM_001130158.3(MYO1B):c.2474G>A:p.Arg825Gln	coding	Benign
2	191836682	T	C	T191836682C	CAVIN2	NM_004657.6(CAVIN2):c.519A>G:p.Lys173=	coding	Benign
2	191846728	C	T	C191846728T	CAVIN2	NM_004657.6(CAVIN2):c.198G>A:p.Val66=	coding	Benign
2	192057773	G	A	G192057773A	TMEFF2	NM_016192.4(TMEFF2):c.442C>T:p.His148Tyr	coding	Benign
2	195738049	G	A	G195738049A	DNAH7	NM_018897.3(DNAH7):c.11947C>T:p.Arg3983Trp	coding	Benign
2	195756164	T	C	T195756164C	DNAH7	NM_018897.3(DNAH7):c.11555A>G:p.Asn3852Ser	coding	Benign
2	195777963	C	T	C195777963T	DNAH7	NM_018897.3(DNAH7):c.10901G>A:p.Arg3634Gln	coding	Benign
2	195787135	A	G	A195787135G	DNAH7	NM_018897.3(DNAH7):c.10753T>C:p.Phe3585Leu	coding	Pathogenic
2	195799353	G	A	G195799353A	DNAH7	NM_018897.3(DNAH7):c.10296C>T:p.Phe3432=	coding	Benign
2	195799359	C	T	C195799359T	DNAH7	NM_018897.3(DNAH7):c.10290G>A:p.Leu3430=	coding	Benign
2	195808780	C	T	C195808780T	DNAH7	NM_018897.3(DNAH7):c.9985G>A:p.Asp3329Asn	coding	Benign
2	195808809	A	G	A195808809G	DNAH7	NM_018897.3(DNAH7):c.9956T>C:p.Leu3319Pro	coding	Benign
2	195816822	G	A	G195816822A	DNAH7	NM_018897.3(DNAH7):c.9567C>T:p.Ala3189=	coding	Benign
2	195824412	G	C	G195824412C	DNAH7	NM_018897.3(DNAH7):c.9134C>G:p.Pro3045Arg	coding	Benign
2	195834202	A	G	A195834202G	DNAH7	NM_018897.3(DNAH7):c.9100+4T>C	noncoding	Benign
2	195853370	G	A	G195853370A	DNAH7	NM_018897.3(DNAH7):c.8754C>T:p.Leu2918=	coding	Benign
2	195855923	A	G	A195855923G	DNAH7	NM_018897.3(DNAH7):c.8483T>C:p.Met2828Thr	coding	Benign
2	195855942	C	T	C195855942T	DNAH7	NM_018897.3(DNAH7):c.8464G>A:p.Gly2822Arg	coding	Benign
2	195857424	C	T	C195857424T	DNAH7	NM_018897.3(DNAH7):c.8367G>A:p.Ala2789=	coding	Benign
2	195857582	C	T	C195857582T	DNAH7	NM_018897.3(DNAH7):c.8209G>A:p.Gly2737Ser	coding	Pathogenic
2	195858636	T	C	T195858636C	DNAH7	NM_018897.3(DNAH7):c.7905A>G:p.Val2635=	coding	Benign
2	195858800	C	T	C195858800T	DNAH7	NM_018897.3(DNAH7):c.7741G>A:p.Val2581Ile	coding	Benign
2	195864278	G	C	G195864278C	DNAH7	NM_018897.3(DNAH7):c.7377C>G:p.Asn2459Lys	coding	Benign
2	195864865	C	A	C195864865A	DNAH7	NM_018897.3(DNAH7):c.6790G>T:p.Asp2264Tyr	coding	Benign
2	195864926	T	G	T195864926G	DNAH7	NM_018897.3(DNAH7):c.6729A>C:p.Glu2243Asp	coding	Benign
2	195873641	T	C	T195873641C	DNAH7	NM_018897.3(DNAH7):c.6340A>G:p.Thr2114Ala	coding	Benign
2	195876536	G	C	G195876536C	DNAH7	NM_018897.3(DNAH7):c.6117+8C>G	noncoding	Benign
2	195876602	A	G	A195876602G	DNAH7	NM_018897.3(DNAH7):c.6059T>C:p.Met2020Thr	coding	Benign
2	195884779	C	T	C195884779T	DNAH7	NM_018897.3(DNAH7):c.5569G>A:p.Val1857Ile	coding	Benign
2	195884788	T	C	T195884788C	DNAH7	NM_018897.3(DNAH7):c.5560A>G:p.Ile1854Val	coding	Benign
2	195886147	C	T	C195886147T	DNAH7	NM_018897.3(DNAH7):c.5532G>A:p.Leu1844=	coding	Benign
2	195900374	G	A	G195900374A	DNAH7	NM_018897.3(DNAH7):c.4456C>T:p.Arg1486Cys	coding	Benign
2	195906730	G	T	G195906730T	DNAH7	NM_018897.3(DNAH7):c.4264C>A:p.Pro1422Thr	coding	Benign
2	195910126	A	G	A195910126G	DNAH7	NM_018897.3(DNAH7):c.4005T>C:p.Thr1335=	coding	Benign
2	195926552	T	G	T195926552G	DNAH7	NM_018897.3(DNAH7):c.3486A>C:p.Ala1162=	coding	Benign
2	195926573	A	G	A195926573G	DNAH7	NM_018897.3(DNAH7):c.3472-7T>C	noncoding	Benign
2	195957280	A	G	A195957280G	DNAH7	NM_018897.3(DNAH7):c.3059T>C:p.Ile1020Thr	coding	Benign
2	195960532	G	C	G195960532C	DNAH7	NM_018897.3(DNAH7):c.2619C>G:p.Val873=	coding	Benign
2	195972277	T	C	T195972277C	DNAH7	NM_018897.3(DNAH7):c.2023A>G:p.Lys675Glu	coding	Benign
2	195987187	G	A	G195987187A	DNAH7	NM_018897.3(DNAH7):c.1633C>T:p.Arg545Cys	coding	Benign
2	195988043	C	T	C195988043T	DNAH7	NM_018897.3(DNAH7):c.1540G>A:p.Ala514Thr	coding	Benign
2	195988063	C	T	C195988063T	DNAH7	NM_018897.3(DNAH7):c.1520G>A:p.Arg507Gln	coding	Benign
2	195988163	C	T	C195988163T	DNAH7	NM_018897.3(DNAH7):c.1420G>A:p.Glu474Lys	coding	Benign
2	196000744	C	T	C196000744T	DNAH7	NM_018897.3(DNAH7):c.1313G>A:p.Ser438Asn	coding	Benign
2	196000783	A	G	A196000783G	DNAH7	NM_018897.3(DNAH7):c.1274T>C:p.Ile425Thr	coding	Benign
2	196001696	C	T	C196001696T	DNAH7	NM_018897.3(DNAH7):c.1152G>A:p.Thr384=	coding	Benign
2	196001709	A	C	A196001709C	DNAH7	NM_018897.3(DNAH7):c.1139T>G:p.Met380Arg	coding	Benign/Likely_benign
2	196026866	G	A	G196026866A	DNAH7	NM_018897.3(DNAH7):c.561C>T:p.His187=	coding	Benign
2	196028022	C	T	C196028022T	DNAH7	NM_018897.3(DNAH7):c.424G>A:p.Ala142Thr	coding	Benign
2	196047343	A	G	A196047343G	DNAH7	NM_018897.3(DNAH7):c.398+9T>C	noncoding	Benign
2	196048356	T	A	T196048356A	DNAH7	NM_018897.3(DNAH7):c.190A>T:p.Ser64Cys	coding	Benign
2	196201379	T	A	T196201379A	HECW2	NM_001348768.2(HECW2):c.4617A>T:p.Thr1539=	coding	Benign
2	196215918	G	A	G196215918A	HECW2	NM_001348768.2(HECW2):c.4554C>T:p.Asn1518=	coding	Benign
2	196220846	A	G	A196220846G	HECW2	NM_001348768.2(HECW2):c.4242T>C:p.Ile1414=	coding	Benign
2	196220907	T	C	T196220907C	HECW2	NM_001348768.2(HECW2):c.4181A>G:p.Asn1394Ser	coding	Benign
2	196222337	T	C	T196222337C	HECW2	NM_001348768.2(HECW2):c.4020A>G:p.Leu1340=	coding	Benign
2	196225800	G	A	G196225800A	HECW2	NM_001348768.2(HECW2):c.3988C>T:p.Arg1330Trp	coding	Pathogenic
2	196242147	T	C	T196242147C	HECW2	NM_001348768.2(HECW2):c.3587A>G:p.Lys1196Arg	coding	Pathogenic
2	196242157	A	C	A196242157C	HECW2	NM_001348768.2(HECW2):c.3577T>G:p.Phe1193Val	coding	Pathogenic
2	196274012	A	G	A196274012G	HECW2	NM_001348768.2(HECW2):c.3238+9T>C	noncoding	Benign
2	196274090	C	T	C196274090T	HECW2	NM_001348768.2(HECW2):c.3169G>A:p.Val1057Ile	coding	Benign
2	196292558	G	A	G196292558A	HECW2	NM_001348768.2(HECW2):c.3000+7C>T	noncoding	Benign
2	196306604	G	T	G196306604T	HECW2	NM_001348768.2(HECW2):c.2698C>A:p.Arg900=	coding	Benign
2	196318544	T	C	T196318544C	HECW2	NM_001348768.2(HECW2):c.2338+8A>G	noncoding	Benign
2	196318608	C	T	C196318608T	HECW2	NM_001348768.2(HECW2):c.2282G>A:p.Gly761Glu	coding	Benign
2	196318643	A	G	A196318643G	HECW2	NM_001348768.2(HECW2):c.2247T>C:p.Ala749=	coding	Benign
2	196318650	G	A	G196318650A	HECW2	NM_001348768.2(HECW2):c.2240C>T:p.Ala747Val	coding	Benign
2	196318651	C	G	C196318651G	HECW2	NM_001348768.2(HECW2):c.2239G>C:p.Ala747Pro	coding	Benign
2	196318661	C	A	C196318661A	HECW2	NM_001348768.2(HECW2):c.2229G>T:p.Leu743=	coding	Benign
2	196318670	C	G	C196318670G	HECW2	NM_001348768.2(HECW2):c.2220G>C:p.Arg740Ser	coding	Benign
2	196318914	C	T	C196318914T	HECW2	NM_001348768.2(HECW2):c.1976G>A:p.Arg659Gln	coding	Benign
2	196319339	T	G	T196319339G	HECW2	NM_001348768.2(HECW2):c.1551A>C:p.Glu517Asp	coding	Benign
2	196319613	T	C	T196319613C	HECW2	NM_001348768.2(HECW2):c.1277A>G:p.Asn426Ser	coding	Benign
2	196319673	G	A	G196319673A	HECW2	NM_001348768.2(HECW2):c.1217C>T:p.Thr406Ile	coding	Benign
2	196319828	G	A	G196319828A	HECW2	NM_001348768.2(HECW2):c.1062C>T:p.Asp354=	coding	Benign
2	196319878	T	A	T196319878A	HECW2	NM_001348768.2(HECW2):c.1012A>T:p.Ile338Leu	coding	Benign
2	196319894	T	C	T196319894C	HECW2	NM_001348768.2(HECW2):c.996A>G:p.Pro332=	coding	Benign
2	196320391	G	A	G196320391A	HECW2	NM_001348768.2(HECW2):c.933C>T:p.His311=	coding	Benign
2	196325007	G	A	G196325007A	HECW2	NM_001348768.2(HECW2):c.714C>T:p.Asn238=	coding	Benign
2	196329613	T	C	T196329613C	HECW2	NM_001348768.2(HECW2):c.533A>G:p.Asn178Ser	coding	Benign
2	196343657	G	A	G196343657A	HECW2	NM_001348768.2(HECW2):c.400C>T:p.Pro134Ser	coding	Benign
2	196343710	G	A	G196343710A	HECW2	NM_001348768.2(HECW2):c.347C>T:p.Thr116Ile	coding	Benign
2	196433208	T	C	T196433208C	HECW2	NM_001348768.2(HECW2):c.216A>G:p.Gln72=	coding	Benign
2	196433217	C	T	C196433217T	HECW2	NM_001348768.2(HECW2):c.207G>A:p.Thr69=	coding	Benign
2	196433235	G	A	G196433235A	HECW2	NM_001348768.2(HECW2):c.189C>T:p.Ala63=	coding	Benign
2	196433256	C	T	C196433256T	HECW2	NM_001348768.2(HECW2):c.168G>A:p.Glu56=	coding	Benign
2	196842747	A	G	A196842747G	PGAP1	NM_024989.4(PGAP1):c.2604T>C:p.Asn868=	coding	Benign
2	196847053	C	T	C196847053T	PGAP1	NM_024989.4(PGAP1):c.2100G>A:p.Leu700=	coding	Benign
2	196847146	G	A	G196847146A	PGAP1	NM_024989.4(PGAP1):c.2007C>T:p.Ala669=	coding	Benign
2	196847937	T	G	T196847937G	PGAP1	NM_024989.4(PGAP1):c.1952+10A>C	noncoding	Benign
2	196847946	C	A	C196847946A	PGAP1	NM_024989.4(PGAP1):c.1952+1G>T	noncoding	Pathogenic
2	196848040	G	A	G196848040A	PGAP1	NM_024989.4(PGAP1):c.1862-3C>T	noncoding	Benign
2	196865000	A	G	A196865000G	PGAP1	NM_024989.4(PGAP1):c.1848T>C:p.Ser616=	coding	Benign
2	196870955	G	C	G196870955C	PGAP1	NM_024989.4(PGAP1):c.1753C>G:p.Gln585Glu	coding	Benign/Likely_benign
2	196873007	A	T	A196873007T	PGAP1	NM_024989.4(PGAP1):c.1572T>A:p.Tyr524Ter	coding	Pathogenic
2	196873581	T	C	T196873581C	PGAP1	NM_024989.4(PGAP1):c.1501-2A>G	noncoding	Pathogenic
2	196875776	G	A	G196875776A	PGAP1	NM_024989.4(PGAP1):c.1396C>T:p.Gln466Ter	coding	Pathogenic
2	196890913	T	C	T196890913C	PGAP1	NM_024989.4(PGAP1):c.1090-2A>G	noncoding	Pathogenic
2	196897130	C	T	C196897130T	PGAP1	NM_024989.4(PGAP1):c.927+1G>A	noncoding	Pathogenic
2	196897152	A	G	A196897152G	PGAP1	NM_024989.4(PGAP1):c.906T>C:p.Leu302=	coding	Benign/Likely_benign
2	196902616	A	C	A196902616C	PGAP1	NM_024989.4(PGAP1):c.776T>G:p.Leu259Ter	coding	Pathogenic
2	196912997	A	C	A196912997C	PGAP1	NM_024989.4(PGAP1):c.534T>G:p.Leu178=	coding	Benign
2	196916468	G	A	G196916468A	PGAP1	NM_024989.4(PGAP1):c.427C>T:p.Gln143Ter	coding	Pathogenic
2	197392312	A	G	A197392312G	SF3B1	NM_012433.4(SF3B1):c.3906T>C:p.Tyr1302=	coding	Benign
2	197392351	G	A	G197392351A	SF3B1	NM_012433.4(SF3B1):c.3867C>T:p.Asn1289=	coding	Benign
2	197393196	G	A	G197393196A	SF3B1	NM_012433.4(SF3B1):c.3540-8C>T	noncoding	Benign
2	197398035	A	G	A197398035G	SF3B1	NM_012433.4(SF3B1):c.3216T>C:p.Ala1072=	coding	Benign
2	197402104	G	T	G197402104T	SF3B1	NM_012433.4(SF3B1):c.2104C>A:p.Arg702=	coding	Benign
2	197402635	C	A	C197402635A	SF3B1	NM_012433.3(SF3B1):c.1998G>T:p.Lys666Asn	coding	Pathogenic
2	197405293	T	C	T197405293C	SF3B1	NM_012433.4(SF3B1):c.1419A>G:p.Gln473=	coding	Benign
2	197408043	T	G	T197408043G	SF3B1	NM_012433.4(SF3B1):c.1194A>C:p.Pro398=	coding	Benign
2	197408082	A	C	A197408082C	SF3B1	NM_012433.4(SF3B1):c.1155T>G:p.Ala385=	coding	Benign
2	197416735	A	T	A197416735T	SF3B1	NM_012433.4(SF3B1):c.666+6T>A	noncoding	Benign
2	197416765	T	C	T197416765C	SF3B1	NM_012433.4(SF3B1):c.642A>G:p.Lys214=	coding	Benign
2	197418542	A	G	A197418542G	SF3B1	NM_012433.4(SF3B1):c.462T>C:p.Asp154=	coding	Benign
2	197423841	G	A	G197423841A	SF3B1	NM_012433.4(SF3B1):c.162C>T:p.Tyr54=	coding	Benign
2	197487080	C	G	C197487080G	HSPD1	NM_002156.5(HSPD1):c.1688G>C:p.Gly563Ala	coding	Benign
2	197487981	A	G	A197487981G	HSPD1	NM_002156.5(HSPD1):c.1446T>C:p.Asn482=	coding	Benign
2	197487993	G	C	G197487993C	HSPD1	NM_002156.5(HSPD1):c.1434C>G:p.Thr478=	coding	Benign
2	197488347	A	G	A197488347G	HSPD1	NM_002156.5(HSPD1):c.1360T>C:p.Leu454=	coding	Benign
2	197488500	G	A	G197488500A	HSPD1	NM_002156.5(HSPD1):c.1216-9C>T	noncoding	Benign
2	197489077	G	A	G197489077A	HSPD1	NM_002156.5(HSPD1):c.1140C>T:p.Val380=	coding	Benign
2	197494149	G	A	G197494149A	HSPD1	NM_002156.5(HSPD1):c.700+8C>T	noncoding	Benign/Likely_benign
2	197494303	G	C	G197494303C	HSPD1	NM_002156.5(HSPD1):c.607-53C>G	noncoding	Benign
2	197494660	T	C	T197494660C	HSPD1	NM_002156.5(HSPD1):c.603A>G:p.Val201=	coding	Benign
2	197494702	A	G	A197494702G	HSPD1	NM_002156.5(HSPD1):c.561T>C:p.Ser187=	coding	Benign
2	197495386	C	T	C197495386T	HSPD1	NM_002156.5(HSPD1):c.428-10G>A	noncoding	Benign
2	197497183	G	A	G197497183A	HSPD1	NM_002156.5(HSPD1):c.384C>T:p.Phe128=	coding	Benign
2	197497275	C	T	C197497275T	HSPD1	NM_002156.5(HSPD1):c.292G>A:p.Val98Ile	coding	Pathogenic
2	197497294	T	C	T197497294C	HSPD1	NM_002156.5(HSPD1):c.273A>G:p.Lys91=	coding	Benign
2	197498705	G	A	G197498705A	HSPD1	NM_002156.5(HSPD1):c.144C>T:p.Ala48=	coding	Benign
2	197498763	T	C	T197498763C	HSPD1	NM_002156.5(HSPD1):c.86A>G:p.Asp29Gly	coding	Pathogenic
2	197498780	A	G	A197498780G	HSPD1	NM_002156.5(HSPD1):c.69T>C:p.Thr23=	coding	Benign
2	197498831	T	C	T197498831C	HSPD1	NM_002156.5(HSPD1):c.18A>G:p.Thr6=	coding	Benign
2	197498870	G	A	G197498870A	HSPD1	NM_002156.5(HSPD1):c.-2-20C>T	noncoding	Benign
2	197499767	G	A	G197499767A	HSPD1	NM_002156.5(HSPD1):c.-3+15C>T	noncoding	Benign
2	197499794	G	A	G197499794A	HSPD1	NM_002156.5(HSPD1):c.-15C>T	noncoding	Benign
2	197499799	G	C	G197499799C	HSPD1	NM_002156.5(HSPD1):c.-20C>G	noncoding	Benign
2	197705417	G	A	G197705417A	MARS2	NM_138395.4(MARS2):c.12G>A:p.Thr4=	coding	Benign
2	197705429	C	G	C197705429G	MARS2	NM_138395.4(MARS2):c.24C>G:p.Arg8=	coding	Benign
2	197705465	C	T	C197705465T	MARS2	NM_138395.4(MARS2):c.60C>T:p.Leu20=	coding	Benign/Likely_benign
2	197705529	G	A	G197705529A	MARS2	NM_138395.4(MARS2):c.124G>A:p.Asp42Asn	coding	Benign/Likely_benign
2	197705727	C	T	C197705727T	MARS2	NM_138395.4(MARS2):c.322C>T:p.Leu108=	coding	Benign
2	197705829	C	T	C197705829T	MARS2	NM_138395.4(MARS2):c.424C>T:p.Arg142Trp	coding	Pathogenic
2	197705876	C	T	C197705876T	MARS2	NM_138395.4(MARS2):c.471C>T:p.Arg157=	coding	Benign
2	197705955	C	T	C197705955T	MARS2	NM_138395.4(MARS2):c.550C>T:p.Gln184Ter	coding	Pathogenic
2	197706011	A	G	A197706011G	MARS2	NM_138395.4(MARS2):c.606A>G:p.Pro202=	coding	Benign
2	197706153	C	T	C197706153T	MARS2	NM_138395.4(MARS2):c.748C>T:p.Leu250=	coding	Benign
2	197706578	G	C	G197706578C	MARS2	NM_138395.4(MARS2):c.1173G>C:p.Val391=	coding	Benign
2	197706692	C	T	C197706692T	MARS2	NM_138395.4(MARS2):c.1287C>T:p.Phe429=	coding	Benign
2	197706702	C	G	C197706702G	MARS2	NM_138395.4(MARS2):c.1297C>G:p.Pro433Ala	coding	Benign/Likely_benign
2	197706985	T	C	T197706985C	MARS2	NM_138395.4(MARS2):c.1580T>C:p.Val527Ala	coding	Benign
2	197707020	C	T	C197707020T	MARS2	NM_138395.4(MARS2):c.1615C>T:p.Leu539=	coding	Benign
2	198085563	G	T	G198085563T	PLCL1	NM_006226.4(PLCL1):c.2046G>T:p.Thr682=	coding	Benign
2	198101320	G	A	G198101320A	PLCL1	NM_006226.4(PLCL1):c.2955G>A:p.Ala985=	coding	Benign
2	199272237	C	T	C199272237T	SATB2	NM_001172509.2(SATB2):c.2176G>A:p.Ala726Thr	coding	Benign/Likely_benign
2	199272278	T	C	T199272278C	SATB2	NM_001172509.2(SATB2):c.2135A>G:p.Lys712Arg	coding	Benign
2	199272292	G	A	G199272292A	SATB2	NM_001172509.2(SATB2):c.2121C>T:p.Ser707=	coding	Benign/Likely_benign
2	199272339	C	A	C199272339A	SATB2	NM_001172509.2(SATB2):c.2074G>T:p.Glu692Ter	coding	Pathogenic
2	199272595	C	A	C199272595A	SATB2	NM_001172509.2(SATB2):c.1818G>T:p.Pro606=	coding	Benign/Likely_benign
2	199272651	G	A	G199272651A	SATB2	NM_001172509.2(SATB2):c.1762C>T:p.Gln588Ter	coding	Pathogenic
2	199272657	G	A	G199272657A	SATB2	NM_001172509.2(SATB2):c.1756C>T:p.Gln586Ter	coding	Pathogenic/Likely_pathogenic
2	199272664	A	G	A199272664G	SATB2	NM_001172509.2(SATB2):c.1749T>C:p.His583=	coding	Benign
2	199308957	C	T	C199308957T	SATB2	NM_001172509.2(SATB2):c.1543G>A:p.Gly515Ser	coding	Pathogenic
2	199308961	T	G	T199308961G	SATB2	NM_001172509.2(SATB2):c.1543-4A>C	noncoding	Benign
2	199323807	C	T	C199323807T	SATB2	NM_001172509.2(SATB2):c.1538G>A:p.Ser513Asn	coding	Pathogenic
2	199323850	T	A	T199323850A	SATB2	NM_001172509.2(SATB2):c.1495A>T:p.Lys499Ter	coding	Pathogenic
2	199323868	G	A	G199323868A	SATB2	NM_001172509.2(SATB2):c.1477C>T:p.Gln493Ter	coding	Pathogenic
2	199323904	T	C	T199323904C	SATB2	NM_001172509.2(SATB2):c.1441A>G:p.Ile481Val	coding	Benign
2	199323911	G	A	G199323911A	SATB2	NM_001172509.2(SATB2):c.1434C>T:p.Gly478=	coding	Benign
2	199328709	G	A	G199328709A	SATB2	NM_001172509.2(SATB2):c.1375C>T:p.Arg459Ter	coding	Pathogenic
2	199328798	C	T	C199328798T	SATB2	NM_001172509.2(SATB2):c.1286G>A:p.Arg429Gln	coding	Pathogenic
2	199328799	G	A	G199328799A	SATB2	NM_001172509.2(SATB2):c.1285C>T:p.Arg429Ter	coding	Pathogenic
2	199328859	G	A	G199328859A	SATB2	NM_001172509.2(SATB2):c.1225C>T:p.Gln409Ter	coding	Pathogenic
2	199328888	C	T	C199328888T	SATB2	NM_001172509.2(SATB2):c.1196G>A:p.Arg399His	coding	Pathogenic
2	199328897	T	C	T199328897C	SATB2	NM_001172509.2(SATB2):c.1187A>G:p.Glu396Gly	coding	Pathogenic
2	199328898	C	G	C199328898G	SATB2	NM_001172509.2(SATB2):c.1186G>C:p.Glu396Gln	coding	Pathogenic
2	199328911	C	T	C199328911T	SATB2	NM_001172509.2(SATB2):c.1174-1G>A	coding	Pathogenic
2	199348703	G	A	G199348703A	SATB2	NM_001172509.2(SATB2):c.1171C>T:p.Gln391Ter	coding	Pathogenic
2	199348709	G	A	G199348709A	SATB2	NM_001172509.2(SATB2):c.1165C>T:p.Arg389Cys	coding	Pathogenic
2	199348732	A	C	A199348732C	SATB2	NM_001172509.2(SATB2):c.1142T>G:p.Val381Gly	coding	Pathogenic
2	199348734	A	T	A199348734T	SATB2	NM_001172509.2(SATB2):c.1140T>A:p.Ala380=	coding	Benign
2	199348839	G	T	G199348839T	SATB2	NM_001172509.2(SATB2):c.1035C>A:p.Ile345=	coding	Benign
2	199348877	G	A	G199348877A	SATB2	NM_001172509.2(SATB2):c.997C>T:p.Gln333Ter	coding	Pathogenic
2	199348980	A	T	A199348980T	SATB2	NM_001172509.2(SATB2):c.894T>A:p.Leu298=	coding	Benign
2	199349006	G	A	G199349006A	SATB2	NM_001172509.2(SATB2):c.868C>T:p.Gln290Ter	coding	Pathogenic
2	199349012	C	T	C199349012T	SATB2	NM_001172509.2(SATB2):c.862G>A:p.Ala288Thr	coding	Benign
2	199349021	G	A	G199349021A	SATB2	NM_001172509.2(SATB2):c.853C>T:p.Gln285Ter	coding	Pathogenic
2	199349027	G	A	G199349027A	SATB2	NM_001172509.2(SATB2):c.847C>T:p.Arg283Ter	coding	Pathogenic
2	199349030	T	C	T199349030C	SATB2	NM_001172509.2(SATB2):c.844A>G:p.Ile282Val	coding	Benign
2	199349126	G	A	G199349126A	SATB2	NM_001172509.2(SATB2):c.748C>T:p.Gln250Ter	coding	Pathogenic
2	199349142	G	C	G199349142C	SATB2	NM_001172509.2(SATB2):c.732C>G:p.Asp244Glu	coding	Benign
2	199349142	G	T	G199349142T	SATB2	NM_001172509.2(SATB2):c.732C>A:p.Asp244Glu	coding	Benign
2	199349159	G	A	G199349159A	SATB2	NM_001172509.2(SATB2):c.715C>T:p.Arg239Ter	coding	Pathogenic
2	199380363	C	T	C199380363T	SATB2	NM_001172509.2(SATB2):c.597+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	199380399	G	A	G199380399A	SATB2	NM_001172509.2(SATB2):c.562C>T:p.Gln188Ter	coding	Pathogenic
2	199380408	C	A	C199380408A	SATB2	NM_001172509.2(SATB2):c.553G>T:p.Glu185Ter	coding	Pathogenic
2	199380411	T	A	T199380411A	SATB2	NM_001172509.2(SATB2):c.550A>T:p.Lys184Ter	coding	Pathogenic
2	199380479	T	C	T199380479C	SATB2	NM_001172509.2(SATB2):c.482A>G:p.Lys161Arg	coding	Benign
2	199380489	T	C	T199380489C	SATB2	NM_001172509.2(SATB2):c.474-2A>G	noncoding	Pathogenic
2	199381762	G	A	G199381762A	SATB2	NM_001172509.2(SATB2):c.405C>T:p.Pro135=	coding	Benign/Likely_benign
2	199433336	A	C	A199433336C	SATB2	NM_001172509.2(SATB2):c.346+2T>G	noncoding	Pathogenic
2	199433341	G	A	G199433341A	SATB2	NM_001172509.2(SATB2):c.343C>T:p.Gln115Ter	coding	Pathogenic
2	199433347	G	A	G199433347A	SATB2	NM_001172509.2(SATB2):c.337C>T:p.Gln113Ter	coding	Pathogenic
2	199433366	A	C	A199433366C	SATB2	NM_001172509.2(SATB2):c.318T>G:p.Tyr106Ter	coding	Pathogenic
2	199433378	C	T	C199433378T	SATB2	NM_001172509.2(SATB2):c.306G>A:p.Leu102=	coding	Benign
2	199433459	A	T	A199433459T	SATB2	NM_001172509.2(SATB2):c.225T>A:p.Tyr75Ter	coding	Pathogenic
2	199433474	G	A	G199433474A	SATB2	NM_001172509.2(SATB2):c.210C>T:p.Asp70=	coding	Benign/Likely_benign
2	199433489	G	A	G199433489A	SATB2	NM_001172509.2(SATB2):c.195C>T:p.Val65=	coding	Benign
2	199455914	C	A	C199455914A	SATB2	NM_001172509.2(SATB2):c.124G>T:p.Gly42Ter	coding	Pathogenic
2	200490143	G	A	G200490143A	KCTD18	NM_152387.4(KCTD18):c.1238C>T:p.Ala413Val	coding	Benign
2	200490375	C	A	C200490375A	KCTD18	NM_152387.4(KCTD18):c.1006G>T:p.Gly336Cys	coding	Benign
2	200571292	A	G	A200571292G	SGO2	NM_152524.6(SGO2):c.946A>G:p.Asn316Asp	coding	Benign
2	200571375	G	T	G200571375T	SGO2	NM_152524.6(SGO2):c.1029G>T:p.Glu343Asp	coding	Benign
2	200571756	A	C	A200571756C	SGO2	NM_152524.6(SGO2):c.1410A>C:p.Leu470=	coding	Benign
2	200599700	G	A	G200599700A	AOX1	NM_001159.4(AOX1):c.390G>A:p.Arg130=	coding	Benign
2	200605631	G	A	G200605631A	AOX1	NM_001159.4(AOX1):c.907+3G>A	noncoding	Benign
2	200609017	A	G	A200609017G	AOX1	NM_001159.4(AOX1):c.941A>G:p.Gln314Arg	coding	Benign
2	200616016	T	C	T200616016C	AOX1	NM_001159.4(AOX1):c.1657T>C:p.Leu553=	coding	Benign
2	200620738	T	A	T200620738A	AOX1	NM_001159.4(AOX1):c.1793T>A:p.Ile598Asn	coding	Benign
2	200627439	A	G	A200627439G	AOX1	NM_001159.4(AOX1):c.2211A>G:p.Gln737=	coding	Benign
2	200656886	C	T	C200656886T	AOX1	NM_001159.4(AOX1):c.3120C>T:p.Val1040=	coding	Benign
2	200659241	C	G	C200659241G	AOX1	NM_001159.4(AOX1):c.3248C>G:p.Ala1083Gly	coding	Benign
2	200668740	C	T	C200668740T	AOX1	NM_001159.4(AOX1):c.3735C>T:p.Pro1245=	coding	Benign
2	200668797	A	G	A200668797G	AOX1	NM_001159.4(AOX1):c.3792A>G:p.Ser1264=	coding	Benign
2	200891952	A	G	A200891952G	NIF3L1	NM_001136039.2(NIF3L1):c.9A>G:p.Ser3=	coding	Benign
2	201072325	T	C	T201072325C	NDUFB3	NM_002491.3(NDUFB3):c.-3+266T>C	noncoding	Benign
2	201072375	A	G	A201072375G	NDUFB3	NM_002491.3(NDUFB3):c.-3+316A>G	noncoding	Benign
2	201078708	A	G	A201078708G	NDUFB3	NM_002491.3(NDUFB3):c.-2-173A>G	noncoding	Benign
2	201078946	T	C	T201078946C	NDUFB3	NM_002491.3(NDUFB3):c.64T>C:p.Trp22Arg	coding	Pathogenic/Likely_pathogenic
2	201085526	G	T	G201085526T	NDUFB3	NM_002491.3(NDUFB3):c.208G>T:p.Gly70Ter	coding	Pathogenic/Likely_pathogenic
2	201145378	C	A	C201145378A	CFLAR	NM_003879.7(CFLAR):c.607C>A:p.Leu203Ile	coding	Benign
2	201160763	G	A	G201160763A	CFLAR	NM_003879.7(CFLAR):c.1125G>A:p.Val375=	coding	Benign
2	201182956	T	C	T201182956C	CASP10	NM_032977.3(CASP10):c.-360T>C	noncoding	Benign
2	201183110	C	T	C201183110T	CASP10	NM_032977.3(CASP10):c.-206C>T	noncoding	Benign
2	201185826	A	G	A201185826G	CASP10	NM_032977.3(CASP10):c.49A>G:p.Lys17Glu	coding	Benign
2	201185951	C	T	C201185951T	CASP10	NM_032977.3(CASP10):c.174C>T:p.Ala58=	coding	Benign/Likely_benign
2	201185954	A	G	A201185954G	CASP10	NM_032977.4(CASP10):c.177A>G:p.Ser59=	coding	Benign
2	201186132	C	T	C201186132T	CASP10	NM_032977.3(CASP10):c.347+8C>T	noncoding	Benign/Likely_benign
2	201186133	G	T	G201186133T	CASP10	NM_032977.3(CASP10):c.347+9G>T	noncoding	Benign
2	201193076	A	C	A201193076C	CASP10	NM_032977.4(CASP10):c.534A>C:p.Val178=	coding	Benign
2	201195930	A	G	A201195930G	CASP10	NM_032977.3(CASP10):c.666A>G:p.Thr222=	coding	Benign
2	201205929	C	T	C201205929T	CASP10	NM_001230.5(CASP10):c.685-2146C>T	coding	Pathogenic
2	201209057	T	G	T201209057G	CASP10	NM_032977.4(CASP10):c.923-13T>G	noncoding	Benign
2	201209058	G	T	G201209058T	CASP10	NM_032977.3(CASP10):c.923-12G>T	noncoding	Benign
2	201209067	C	T	C201209067T	CASP10	NM_032977.3(CASP10):c.923-3C>T	noncoding	Benign
2	201209077	G	T	G201209077T	CASP10	NM_032977.4(CASP10):c.930G>T:p.Leu310=	coding	Benign/Likely_benign
2	201209215	G	T	G201209215T	CASP10	NM_032977.3(CASP10):c.1068G>T:p.Leu356=	coding	Benign
2	201209363	A	T	A201209363T	CASP10	NM_032977.3(CASP10):c.1216A>T:p.Ile406Leu	coding	Benign/Likely_benign
2	201209375	G	A	G201209375A	CASP10	NM_032977.3(CASP10):c.1228G>A:p.Val410Ile	coding	Benign
2	201209388	C	T	C201209388T	CASP10	NM_032976.3(CASP10):c.*327C>T	coding	Pathogenic
2	201209443	C	T	C201209443T	CASP10	NM_032977.3(CASP10):c.1296C>T:p.Ala432=	coding	Benign
2	201209484	A	G	A201209484G	CASP10	NM_032977.3(CASP10):c.1337A>G:p.Tyr446Cys	coding	Benign
2	201209494	T	C	T201209494C	CASP10	NM_032977.3(CASP10):c.1347T>C:p.Phe449=	coding	Benign/Likely_benign
2	201209570	C	G	C201209570G	CASP10	NM_032977.3(CASP10):c.1415+8C>G	noncoding	Benign/Likely_benign
2	201217736	T	A	T201217736A	CASP10	NM_032977.4(CASP10):c.1564T>A:p.Leu522Ile	coding	Benign
2	201217818	T	G	T201217818G	CASP10	NM_032977.3(CASP10):c.*77T>G	coding	Benign
2	201218784	C	T	C201218784T	CASP10	NM_032977.3(CASP10):c.*1043C>T	coding	Benign
2	201219334	T	C	T201219334C	CASP10	NM_032977.3(CASP10):c.*1593T>C	coding	Benign
2	201219429	A	G	A201219429G	CASP10	NM_032977.3(CASP10):c.*1688A>G	coding	Benign
2	201219534	C	A	C201219534A	CASP10	NM_032977.3(CASP10):c.*1793C>A	coding	Benign
2	201219655	C	T	C201219655T	CASP10	NM_032977.4(CASP10):c.*1914C>T	coding	Benign
2	201219661	G	C	G201219661C	CASP10	NM_032977.3(CASP10):c.*1920G>C	coding	Benign
2	201219696	G	A	G201219696A	CASP10	NM_032977.3(CASP10):c.*1955G>A	coding	Benign
2	201220030	A	C	A201220030C	CASP10	NM_032977.3(CASP10):c.*2289A>C	coding	Benign
2	201220760	C	T	C201220760T	CASP10	NM_032977.3(CASP10):c.*3019C>T	coding	Benign
2	201220812	G	A	G201220812A	CASP10	NM_032977.3(CASP10):c.*3071G>A	coding	Benign
2	201220878	G	C	G201220878C	CASP10	NM_032977.3(CASP10):c.*3137G>C	coding	Benign
2	201221254	A	G	A201221254G	CASP10	NM_032977.3(CASP10):c.*3513A>G	coding	Benign
2	201233603	T	G	T201233603G	CASP8	NM_001228.4(CASP8):c.-143T>G	noncoding	Benign
2	201258233	T	C	T201258233C	CASP8	NM_001228.4(CASP8):c.-26-8228T>C	coding	Benign
2	201258272	A	G	A201258272G	CASP8	NM_001228.4(CASP8):c.-26-8189A>G	coding	Benign
2	201266688	C	T	C201266688T	CASP8	NM_001372051.1(CASP8):c.202C>T:p.Arg68Ter	coding	Pathogenic
2	201269598	T	C	T201269598C	CASP8	NM_001228.4(CASP8):c.394T>C:p.Leu132=	coding	Benign
2	201271549	C	T	C201271549T	CASP8	NM_001372051.1(CASP8):c.339C>T:p.Ser113=	coding	Benign/Likely_benign
2	201276908	C	T	C201276908T	CASP8	NM_001372051.1(CASP8):c.742C>T:p.Arg248Trp	coding	Pathogenic
2	201276955	A	G	A201276955G	CASP8	NM_001372051.1(CASP8):c.789A>G:p.Thr263=	coding	Benign
2	201284866	G	C	G201284866C	CASP8	NM_001372051.1(CASP8):c.853G>C:p.Asp285His	coding	Benign
2	201284973	G	A	G201284973A	CASP8	NM_001372051.1(CASP8):c.960G>A:p.Lys320=	coding	Benign
2	201285316	C	T	C201285316T	CASP8	NM_001372051.1(CASP8):c.1303C>T:p.Arg435Ter	coding	Pathogenic
2	201287439	T	A	T201287439A	CASP8	NM_001372051.1(CASP8):c.*845T>A	noncoding	Benign
2	201289477	C	T	C201289477T	CASP8	NM_001127391.3(FLACC1):c.1122G>A:p.Thr374=	coding	Benign
2	201387893	G	A	G201387893A	TRAK2	NM_015049.3(TRAK2):c.1506C>T:p.Phe502=	coding	Benign
2	201389335	G	A	G201389335A	TRAK2	NM_015049.3(TRAK2):c.1362C>T:p.Leu454=	coding	Benign
2	201389798	T	C	T201389798C	TRAK2	NM_015049.3(TRAK2):c.1193+3A>G	noncoding	Benign
2	201475734	T	C	T201475734C	STRADB	NM_018571.6(STRADB):c.540T>C:p.Cys180=	coding	Benign
2	201622766	C	G	C201622766G	TMEM237	NM_001044385.3(TMEM237):c.*1489G>C	noncoding	Benign
2	201623691	A	G	A201623691G	TMEM237	NM_001044385.3(TMEM237):c.*564T>C	noncoding	Benign
2	201626051	A	G	A201626051G	TMEM237	NM_001044385.3(TMEM237):c.1134T>C:p.Tyr378=	coding	Benign
2	201626089	C	A	C201626089A	TMEM237	NM_001044385.3(TMEM237):c.1096G>T:p.Ala366Ser	coding	Benign
2	201627272	G	A	G201627272A	TMEM237	NM_001044385.3(TMEM237):c.1037+49C>T	noncoding	Benign
2	201628075	C	A	C201628075A	TMEM237	NM_001044385.3(TMEM237):c.943+1G>T	noncoding	Pathogenic
2	201628118	G	A	G201628118A	TMEM237	NM_001044385.3(TMEM237):c.901C>T:p.Arg301Ter	coding	Pathogenic
2	201629728	C	A	C201629728A	TMEM237	NM_001044385.3(TMEM237):c.677+1G>T	noncoding	Pathogenic
2	201629728	C	T	C201629728T	TMEM237	NM_001044385.3(TMEM237):c.677+1G>A	noncoding	Pathogenic
2	201632050	C	T	C201632050T	TMEM237	NM_001044385.3(TMEM237):c.553+1G>A	noncoding	Pathogenic
2	201633304	T	C	T201633304C	TMEM237	NM_001044385.3(TMEM237):c.395+7A>G	noncoding	Benign
2	201633433	T	C	T201633433C	TMEM237	NM_001044385.3(TMEM237):c.275-2A>G	noncoding	Pathogenic
2	201636482	T	C	T201636482C	TMEM237	NM_001044385.3(TMEM237):c.274+266A>G	noncoding	Benign
2	201636725	T	C	T201636725C	TMEM237	NM_001044385.3(TMEM237):c.274+23A>G	noncoding	Benign
2	201636828	T	C	T201636828C	TMEM237	NM_001044385.3(TMEM237):c.194A>G:p.Asn65Ser	coding	Benign/Likely_benign
2	201638981	C	T	C201638981T	TMEM237	NM_001044385.3(TMEM237):c.136+8G>A	noncoding	Benign/Likely_benign
2	201640264	G	A	G201640264A	TMEM237	NM_001044385.3(TMEM237):c.76C>T:p.Gln26Ter	noncoding	Pathogenic
2	201640271	A	G	A201640271G	TMEM237	NM_001044385.3(TMEM237):c.75-6T>C	noncoding	Benign
2	201640278	A	G	A201640278G	TMEM237	NM_001044385.3(TMEM237):c.75-13T>C	noncoding	Benign
2	201640822	G	A	G201640822A	TMEM237	NM_001044385.3(TMEM237):c.74+71C>T	noncoding	Benign
2	201640915	G	A	G201640915A	TMEM237	NM_001044385.3(TMEM237):c.52C>T:p.Arg18Ter	coding	Pathogenic
2	201642630	G	C	G201642630C	TMEM237	NM_001044385.3(TMEM237):c.42+729C>G	coding	Benign
2	201643392	A	C	A201643392C	TMEM237	NM_001044385.3(TMEM237):c.9T>G:p.Thr3=	coding	Benign
2	201643404	G	C	G201643404C	TMEM237	NM_001044385.3(TMEM237):c.-4C>G	noncoding	Benign
2	201643412	C	T	C201643412T	TMEM237	NM_001044385.3(TMEM237):c.-12G>A	noncoding	Benign
2	201643776	G	A	G201643776A	TMEM237	NC_000002.12:g.201643776G>A	noncoding	Benign
2	201675255	A	G	A201675255G	MPP4	NM_033066.3(MPP4):c.946T>C:p.Trp316Arg	coding	Pathogenic
2	201700649	G	A	G201700649A	ALS2	NM_020919.4(ALS2):c.*1202C>T	noncoding	Benign
2	201700847	C	T	C201700847T	ALS2	NM_020919.4(ALS2):c.*1004G>A	noncoding	Benign
2	201700958	G	A	G201700958A	ALS2	NM_020919.4(ALS2):c.*893C>T	noncoding	Benign
2	201701008	C	T	C201701008T	ALS2	NM_020919.4(ALS2):c.*843G>A	noncoding	Benign
2	201701404	C	T	C201701404T	ALS2	NM_020919.4(ALS2):c.*447G>A	noncoding	Benign
2	201701746	T	G	T201701746G	ALS2	NM_020919.4(ALS2):c.*105A>C	noncoding	Benign
2	201704160	G	A	G201704160A	ALS2	NM_020919.4(ALS2):c.4897C>T:p.Gln1633Ter	coding	Pathogenic
2	201704528	C	T	C201704528T	ALS2	NM_020919.4(ALS2):c.4764G>A:p.Ala1588=	coding	Benign
2	201705468	T	C	T201705468C	ALS2	NM_020919.4(ALS2):c.4581-7A>G	noncoding	Benign/Likely_benign
2	201705509	A	G	A201705509G	ALS2	NM_020919.4(ALS2):c.4581-48T>C	noncoding	Benign
2	201706839	C	T	C201706839T	ALS2	NM_020919.4(ALS2):c.4580+7G>A	noncoding	Benign
2	201707891	G	A	G201707891A	ALS2	NM_020919.4(ALS2):c.4381C>T:p.Arg1461Ter	coding	Pathogenic
2	201711098	G	A	G201711098A	ALS2	NM_020919.4(ALS2):c.4015C>T:p.Leu1339=	coding	Benign
2	201715647	G	A	G201715647A	ALS2	NM_020919.4(ALS2):c.4004+25C>T	noncoding	Benign
2	201715791	C	T	C201715791T	ALS2	NM_020919.4(ALS2):c.3885G>A:p.Ala1295=	coding	Benign
2	201723371	C	A	C201723371A	ALS2	NM_020919.4(ALS2):c.3583G>T:p.Gly1195Ter	coding	Pathogenic
2	201723434	T	A	T201723434A	ALS2	NM_020919.4(ALS2):c.3520A>T:p.Lys1174Ter	coding	Pathogenic
2	201723437	C	T	C201723437T	ALS2	NM_020919.4(ALS2):c.3517G>A:p.Glu1173Lys	coding	Benign
2	201724345	C	T	C201724345T	ALS2	NM_020919.4(ALS2):c.3462G>A:p.Gln1154=	coding	Benign/Likely_benign
2	201724392	G	A	G201724392A	ALS2	NM_020919.4(ALS2):c.3415C>T:p.Arg1139Ter	coding	Pathogenic/Likely_pathogenic
2	201725394	A	G	A201725394G	ALS2	NM_020919.4(ALS2):c.3309T>C:p.His1103=	coding	Benign/Likely_benign
2	201726854	G	A	G201726854A	ALS2	NM_020919.4(ALS2):c.2992C>T:p.Arg998Ter	coding	Pathogenic
2	201726868	T	C	T201726868C	ALS2	NM_020919.4(ALS2):c.2980-2A>G	noncoding	Pathogenic
2	201727791	C	T	C201727791T	ALS2	NM_020919.4(ALS2):c.2842-16G>A	noncoding	Benign
2	201728557	G	A	G201728557A	ALS2	NM_020919.4(ALS2):c.2796C>T:p.Ser932=	coding	Benign
2	201728592	G	A	G201728592A	ALS2	NM_020919.4(ALS2):c.2761C>T:p.Arg921Ter	coding	Pathogenic
2	201728616	G	A	G201728616A	ALS2	NM_020919.4(ALS2):c.2737C>T:p.Arg913Ter	coding	Pathogenic
2	201733390	C	T	C201733390T	ALS2	NM_020919.4(ALS2):c.2466G>A:p.Val822=	coding	Benign
2	201741804	G	A	G201741804A	ALS2	NM_020919.4(ALS2):c.2221C>T:p.Arg741Ter	coding	Pathogenic
2	201744285	G	A	G201744285A	ALS2	NM_020919.4(ALS2):c.2143C>T:p.Gln715Ter	coding	Pathogenic
2	201744426	C	A	C201744426A	ALS2	NM_020919.4(ALS2):c.2002G>T:p.Gly668Ter	coding	Pathogenic
2	201744431	T	A	T201744431A	ALS2	NM_020919.4(ALS2):c.1999-2A>T	noncoding	Pathogenic
2	201746643	G	A	G201746643A	ALS2	NM_020919.4(ALS2):c.1921C>T:p.Gln641Ter	coding	Pathogenic
2	201753209	G	T	G201753209T	ALS2	NM_020919.4(ALS2):c.1674C>A:p.Gly558=	coding	Benign
2	201753231	A	T	A201753231T	ALS2	NM_020919.4(ALS2):c.1652T>A:p.Leu551Ter	coding	Pathogenic
2	201754524	C	T	C201754524T	ALS2	NM_020919.4(ALS2):c.1619G>A:p.Gly540Glu	coding	Pathogenic
2	201754565	T	C	T201754565C	ALS2	NM_020919.4(ALS2):c.1578A>G:p.Thr526=	coding	Benign/Likely_benign
2	201754672	C	A	C201754672A	ALS2	NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG	coding	Pathogenic
2	201757640	A	C	A201757640C	ALS2	NM_020919.4(ALS2):c.1233T>G:p.Tyr411Ter	coding	Pathogenic
2	201757786	T	C	T201757786C	ALS2	NM_020919.4(ALS2):c.1114-27A>G	noncoding	Benign
2	201760892	C	T	C201760892T	ALS2	NM_020919.4(ALS2):c.1102G>A:p.Val368Met	coding	Benign
2	201760950	G	C	G201760950C	ALS2	NM_020919.4(ALS2):c.1044C>G:p.Tyr348Ter	coding	Pathogenic
2	201761393	G	A	G201761393A	ALS2	NM_020919.4(ALS2):c.601C>T:p.Arg201Ter	coding	Pathogenic/Likely_pathogenic
2	201761519	C	T	C201761519T	ALS2	NM_020919.4(ALS2):c.475G>A:p.Glu159Lys	coding	Benign
2	201761524	C	T	C201761524T	ALS2	NM_020919.4(ALS2):c.470G>A:p.Cys157Tyr	coding	Pathogenic/Likely_pathogenic
2	201761714	T	C	T201761714C	ALS2	NM_020919.4(ALS2):c.280A>G:p.Ile94Val	coding	Benign
2	201768859	A	G	A201768859G	ALS2	NM_020919.4(ALS2):c.20+7T>C	noncoding	Benign
2	201780911	C	G	C201780911G	ALS2	NM_020919.4(ALS2):c.-95G>C	noncoding	Benign
2	202035234	G	A	G202035234A	FZD7	NM_003507.1(FZD7):c.587G>A:p.Gly196Glu	coding	Benign
2	202035874	G	A	G202035874A	FZD7	NM_003507.1(FZD7):c.1227G>A:p.Gly409=	coding	Benign
2	202376548	A	G	A202376548G	BMPR2	NM_001204.7(BMPR2):c.-927A>G	noncoding	Benign
2	202376771	C	G	C202376771G	BMPR2	NM_001204.7(BMPR2):c.-704C>G	noncoding	Benign
2	202377174	G	A	G202377174A	BMPR2	NM_001204.7(BMPR2):c.-301G>A	noncoding	Benign
2	202377382	A	G	A202377382G	BMPR2	NM_001204.7(BMPR2):c.-93A>G	noncoding	Benign
2	202377483	C	A	C202377483A	BMPR2	NM_001204.7(BMPR2):c.9C>A:p.Ser3=	coding	Benign
2	202377490	C	T	C202377490T	BMPR2	NM_001204.7(BMPR2):c.16C>T:p.Gln6Ter	coding	Pathogenic
2	202377501	G	A	G202377501A	BMPR2	NM_001204.7(BMPR2):c.27G>A:p.Trp9Ter	coding	Pathogenic
2	202377502	C	T	C202377502T	BMPR2	NM_001204.7(BMPR2):c.28C>T:p.Arg10Trp	coding	Pathogenic
2	202377512	G	A	G202377512A	BMPR2	NM_001204.7(BMPR2):c.38G>A:p.Trp13Ter	coding	Pathogenic
2	202377513	G	A	G202377513A	BMPR2	NM_001204.7(BMPR2):c.39G>A:p.Trp13Ter	coding	Pathogenic
2	202377521	G	A	G202377521A	BMPR2	NM_001204.7(BMPR2):c.47G>A:p.Trp16Ter	coding	Pathogenic
2	202377522	G	A	G202377522A	BMPR2	NM_001204.7(BMPR2):c.48G>A:p.Trp16Ter	coding	Pathogenic
2	202377537	C	T	C202377537T	BMPR2	NM_001204.7(BMPR2):c.63C>T:p.Val21=	coding	Benign
2	202377545	C	A	C202377545A	BMPR2	NM_001204.7(BMPR2):c.71C>A:p.Ala24Glu	coding	Pathogenic
2	202377551	G	T	G202377551T	BMPR2	NM_001204.7(BMPR2):c.76+1G>T	coding	Pathogenic
2	202377552	T	C	T202377552C	BMPR2	NM_001204.7(BMPR2):c.76+2T>C	noncoding	Pathogenic
2	202377555	G	A	G202377555A	BMPR2	NM_001204.7(BMPR2):c.76+5G>A	noncoding	Pathogenic/Likely_pathogenic
2	202464808	G	A	G202464808A	BMPR2	NM_001204.7(BMPR2):c.77-1G>A	noncoding	Pathogenic
2	202464813	G	A	G202464813A	BMPR2	NM_001204.7(BMPR2):c.81G>A:p.Ser27=	coding	Benign
2	202464814	C	T	C202464814T	BMPR2	NM_001204.7(BMPR2):c.82C>T:p.Gln28Ter	coding	Pathogenic
2	202464818	A	G	A202464818G	BMPR2	NM_001204.7(BMPR2):c.86A>G:p.Asn29Ser	coding	Benign
2	202464820	C	T	C202464820T	BMPR2	NM_001204.7(BMPR2):c.88C>T:p.Gln30Ter	coding	Pathogenic
2	202464823	G	T	G202464823T	BMPR2	NM_001204.7(BMPR2):c.91G>T:p.Glu31Ter	coding	Pathogenic
2	202464832	T	C	T202464832C	BMPR2	NM_001204.7(BMPR2):c.100T>C:p.Cys34Arg	coding	Pathogenic
2	202464852	T	G	T202464852G	BMPR2	NM_001204.7(BMPR2):c.120T>G:p.Tyr40Ter	coding	Pathogenic
2	202464856	C	T	C202464856T	BMPR2	NM_001204.7(BMPR2):c.124C>T:p.Gln42Ter	coding	Pathogenic
2	202464857	A	G	A202464857G	BMPR2	NM_001204.7(BMPR2):c.125A>G:p.Gln42Arg	coding	Pathogenic
2	202464872	G	A	G202464872A	BMPR2	NM_001204.7(BMPR2):c.140G>A:p.Gly47Asp	coding	Pathogenic
2	202464910	T	C	T202464910C	BMPR2	NM_001204.7(BMPR2):c.178T>C:p.Cys60Arg	coding	Pathogenic
2	202464910	T	G	T202464910G	BMPR2	NM_001204.7(BMPR2):c.178T>G:p.Cys60Gly	coding	Pathogenic
2	202464911	G	A	G202464911A	BMPR2	NM_001204.7(BMPR2):c.179G>A:p.Cys60Tyr	coding	Pathogenic
2	202464928	T	C	T202464928C	BMPR2	NM_001204.7(BMPR2):c.196T>C:p.Cys66Arg	coding	Pathogenic
2	202464928	T	G	T202464928G	BMPR2	NM_001204.7(BMPR2):c.196T>G:p.Cys66Gly	coding	Pathogenic
2	202464929	G	A	G202464929A	BMPR2	NM_001204.7(BMPR2):c.197G>A:p.Cys66Tyr	coding	Pathogenic
2	202464932	A	G	A202464932G	BMPR2	NM_001204.7(BMPR2):c.200A>G:p.Tyr67Cys	coding	Pathogenic
2	202464933	T	G	T202464933G	BMPR2	NM_001204.7(BMPR2):c.201T>G:p.Tyr67Ter	coding	Pathogenic
2	202464935	G	A	G202464935A	BMPR2	NM_001204.7(BMPR2):c.203G>A:p.Gly68Asp	coding	Pathogenic
2	202464950	C	G	C202464950G	BMPR2	NM_001204.7(BMPR2):c.218C>G:p.Ser73Ter	coding	Pathogenic
2	202464976	C	T	C202464976T	BMPR2	NM_001204.7(BMPR2):c.244C>T:p.Gln82Ter	coding	Pathogenic
2	202464978	A	C	A202464978C	BMPR2	NM_001204.7(BMPR2):c.246A>C:p.Gln82His	coding	Pathogenic
2	202464979	G	A	G202464979A	BMPR2	NM_001204.7(BMPR2):c.247G>A:p.Gly83Arg	coding	Pathogenic
2	202464980	G	A	G202464980A	BMPR2	NM_001204.7(BMPR2):c.247+1G>A	coding	Pathogenic
2	202464985	T	G	T202464985G	BMPR2	NM_001204.7(BMPR2):c.247+6T>G	noncoding	Pathogenic
2	202467516	T	C	T202467516C	BMPR2	NM_001204.7(BMPR2):c.248-3T>C	noncoding	Benign
2	202467516	T	G	T202467516G	BMPR2	NM_001204.7(BMPR2):c.248-3T>G	noncoding	Pathogenic
2	202467518	G	A	G202467518A	BMPR2	NM_001204.7(BMPR2):c.248-1G>A	noncoding	Pathogenic
2	202467519	G	A	G202467519A	BMPR2	NM_001204.7(BMPR2):c.248G>A:p.Gly83Glu	coding	Pathogenic
2	202467521	T	C	T202467521C	BMPR2	NM_001204.7(BMPR2):c.250T>C:p.Cys84Arg	coding	Pathogenic
2	202467521	T	G	T202467521G	BMPR2	NM_001204.7(BMPR2):c.250T>G:p.Cys84Gly	coding	Pathogenic
2	202467522	G	A	G202467522A	BMPR2	NM_001204.7(BMPR2):c.251G>A:p.Cys84Tyr	coding	Pathogenic
2	202467522	G	T	G202467522T	BMPR2	NM_001204.7(BMPR2):c.251G>T:p.Cys84Phe	coding	Pathogenic
2	202467526	G	A	G202467526A	BMPR2	NM_001204.7(BMPR2):c.255G>A:p.Trp85Ter	coding	Pathogenic
2	202467545	C	T	C202467545T	BMPR2	NM_001204.7(BMPR2):c.274C>T:p.Gln92Ter	coding	Pathogenic
2	202467551	T	C	T202467551C	BMPR2	NM_001204.7(BMPR2):c.280T>C:p.Cys94Arg	coding	Pathogenic
2	202467551	T	G	T202467551G	BMPR2	NM_001204.7(BMPR2):c.280T>G:p.Cys94Gly	coding	Pathogenic
2	202467559	T	G	T202467559G	BMPR2	NM_001204.7(BMPR2):c.288T>G:p.Tyr96Ter	coding	Pathogenic
2	202467563	G	T	G202467563T	BMPR2	NM_001204.7(BMPR2):c.292G>T:p.Glu98Ter	coding	Pathogenic
2	202467566	T	C	T202467566C	BMPR2	NM_001204.7(BMPR2):c.295T>C:p.Cys99Arg	coding	Pathogenic
2	202467567	G	A	G202467567A	BMPR2	NM_001204.7(BMPR2):c.296G>A:p.Cys99Tyr	coding	Pathogenic
2	202467567	G	T	G202467567T	BMPR2	NM_001204.7(BMPR2):c.296G>T:p.Cys99Phe	coding	Pathogenic
2	202467575	A	G	A202467575G	BMPR2	NM_001204.7(BMPR2):c.304A>G:p.Thr102Ala	coding	Pathogenic
2	202467590	T	C	T202467590C	BMPR2	NM_001204.7(BMPR2):c.319T>C:p.Ser107Pro	coding	Pathogenic
2	202467591	C	G	C202467591G	BMPR2	NM_001204.7(BMPR2):c.320C>G:p.Ser107Ter	coding	Pathogenic
2	202467609	A	G	A202467609G	BMPR2	NM_001204.7(BMPR2):c.338A>G:p.Tyr113Cys	coding	Pathogenic
2	202467610	C	A	C202467610A	BMPR2	NM_001204.7(BMPR2):c.339C>A:p.Tyr113Ter	coding	Pathogenic
2	202467610	C	G	C202467610G	BMPR2	NM_001204.7(BMPR2):c.339C>G:p.Tyr113Ter	coding	Pathogenic
2	202467617	T	C	T202467617C	BMPR2	NM_001204.7(BMPR2):c.346T>C:p.Cys116Arg	coding	Pathogenic
2	202467620	T	C	T202467620C	BMPR2	NM_001204.7(BMPR2):c.349T>C:p.Cys117Arg	coding	Pathogenic
2	202467620	T	G	T202467620G	BMPR2	NM_001204.7(BMPR2):c.349T>G:p.Cys117Gly	coding	Pathogenic
2	202467621	G	A	G202467621A	BMPR2	NM_001204.7(BMPR2):c.350G>A:p.Cys117Tyr	coding	Pathogenic
2	202467621	G	C	G202467621C	BMPR2	NM_001204.7(BMPR2):c.350G>C:p.Cys117Ser	coding	Pathogenic
2	202467625	T	G	T202467625G	BMPR2	NM_001204.7(BMPR2):c.354T>G:p.Cys118Trp	coding	Pathogenic
2	202467638	T	A	T202467638A	BMPR2	NM_001204.7(BMPR2):c.367T>A:p.Cys123Ser	coding	Pathogenic
2	202467638	T	C	T202467638C	BMPR2	NM_001204.7(BMPR2):c.367T>C:p.Cys123Arg	coding	Pathogenic
2	202467641	A	G	A202467641G	BMPR2	NM_001204.7(BMPR2):c.370A>G:p.Asn124Asp	coding	Pathogenic
2	202467648	A	G	A202467648G	BMPR2	NM_001204.7(BMPR2):c.377A>G:p.Asn126Ser	coding	Pathogenic/Likely_pathogenic
2	202467690	G	C	G202467690C	BMPR2	NM_001204.7(BMPR2):c.418+1G>C	coding	Pathogenic
2	202467692	A	T	A202467692T	BMPR2	NM_001204.7(BMPR2):c.418+3A>T	noncoding	Pathogenic
2	202467694	G	A	G202467694A	BMPR2	NM_001204.7(BMPR2):c.418+5G>A	noncoding	Pathogenic/Likely_pathogenic
2	202513709	T	C	T202513709C	BMPR2	NM_001204.7(BMPR2):c.419-10T>C	noncoding	Pathogenic
2	202513739	C	T	C202513739T	BMPR2	NM_001204.7(BMPR2):c.439C>T:p.Arg147Ter	coding	Pathogenic
2	202513770	C	G	C202513770G	BMPR2	NM_001204.7(BMPR2):c.470C>G:p.Ser157Ter	coding	Pathogenic
2	202513782	T	A	T202513782A	BMPR2	NM_001204.7(BMPR2):c.482T>A:p.Leu161Ter	coding	Pathogenic
2	202513807	C	A	C202513807A	BMPR2	NM_001204.7(BMPR2):c.507C>A:p.Cys169Ter	coding	Pathogenic
2	202513816	C	G	C202513816G	BMPR2	NM_001204.7(BMPR2):c.516C>G:p.Tyr172Ter	coding	Pathogenic
2	202513831	T	C	T202513831C	BMPR2	NM_001204.7(BMPR2):c.529+2T>C	noncoding	Pathogenic
2	202514899	C	T	C202514899T	BMPR2	NM_001204.7(BMPR2):c.541C>T:p.Gln181Ter	coding	Pathogenic
2	202514907	T	C	T202514907C	BMPR2	NM_001204.7(BMPR2):c.549T>C:p.Leu183=	coding	Benign
2	202514914	A	G	A202514914G	BMPR2	NM_001204.7(BMPR2):c.556A>G:p.Met186Val	coding	Pathogenic
2	202514941	G	T	G202514941T	BMPR2	NM_001204.7(BMPR2):c.583G>T:p.Glu195Ter	coding	Pathogenic
2	202514958	A	C	A202514958C	BMPR2	NM_001204.7(BMPR2):c.600A>C:p.Leu200=	coding	Benign
2	202514962	A	T	A202514962T	BMPR2	NM_001204.7(BMPR2):c.604A>T:p.Asn202Tyr	coding	Pathogenic
2	202514980	G	A	G202514980A	BMPR2	NM_001204.7(BMPR2):c.621+1G>A	coding	Pathogenic
2	202514987	T	C	T202514987C	BMPR2	NM_001204.7(BMPR2):c.621+8T>C	noncoding	Benign
2	202515016	C	G	C202515016G	BMPR2	NM_001204.7(BMPR2):c.621+37C>G	noncoding	Benign/Likely_benign
2	202518787	A	T	A202518787T	BMPR2	NM_001204.7(BMPR2):c.622-35A>T	noncoding	Benign
2	202518831	C	T	C202518831T	BMPR2	NM_001204.7(BMPR2):c.631C>T:p.Arg211Ter	coding	Pathogenic
2	202518837	C	T	C202518837T	BMPR2	NM_001204.7(BMPR2):c.637C>T:p.Arg213Ter	coding	Pathogenic
2	202518842	T	G	T202518842G	BMPR2	NM_001204.7(BMPR2):c.642T>G:p.Tyr214Ter	coding	Pathogenic
2	202518874	G	A	G202518874A	BMPR2	NM_001204.7(BMPR2):c.674G>A:p.Arg225His	coding	Benign
2	202518890	A	T	A202518890T	BMPR2	NM_001204.7(BMPR2):c.690A>T:p.Lys230Asn	coding	Pathogenic
2	202518912	C	T	C202518912T	BMPR2	NM_001204.7(BMPR2):c.712C>T:p.Gln238Ter	coding	Pathogenic
2	202518927	G	A	G202518927A	BMPR2	NM_001204.7(BMPR2):c.727G>A:p.Glu243Lys	coding	Pathogenic
2	202518927	G	C	G202518927C	BMPR2	NM_001204.7(BMPR2):c.727G>C:p.Glu243Gln	coding	Pathogenic
2	202518927	G	T	G202518927T	BMPR2	NM_001204.7(BMPR2):c.727G>T:p.Glu243Ter	coding	Pathogenic
2	202518993	G	T	G202518993T	BMPR2	NM_001204.7(BMPR2):c.793G>T:p.Glu265Ter	coding	Pathogenic
2	202518994	A	G	A202518994G	BMPR2	NM_001204.7(BMPR2):c.794A>G:p.Glu265Gly	coding	Pathogenic
2	202519030	T	C	T202519030C	BMPR2	NM_001204.7(BMPR2):c.830T>C:p.Leu277Pro	coding	Pathogenic
2	202519043	C	G	C202519043G	BMPR2	NM_001204.7(BMPR2):c.843C>G:p.Tyr281Ter	coding	Pathogenic
2	202519046	T	A	T202519046A	BMPR2	NM_001204.7(BMPR2):c.846T>A:p.Tyr282Ter	coding	Pathogenic
2	202519046	T	G	T202519046G	BMPR2	NM_001204.7(BMPR2):c.846T>G:p.Tyr282Ter	coding	Pathogenic
2	202519053	G	A	G202519053A	BMPR2	NM_001204.7(BMPR2):c.852+1G>A	coding	Pathogenic
2	202519053	G	C	G202519053C	BMPR2	NM_001204.7(BMPR2):c.852+1G>C	coding	Pathogenic
2	202520085	A	G	A202520085G	BMPR2	NM_001204.7(BMPR2):c.853-2A>G	noncoding	Pathogenic
2	202520086	G	A	G202520086A	BMPR2	NM_001204.7(BMPR2):c.853-1G>A	noncoding	Pathogenic/Likely_pathogenic
2	202520086	G	C	G202520086C	BMPR2	NM_001204.7(BMPR2):c.853-1G>C	noncoding	Pathogenic
2	202520094	T	A	T202520094A	BMPR2	NM_001204.7(BMPR2):c.860T>A:p.Leu287Ter	coding	Pathogenic
2	202520106	T	G	T202520106G	BMPR2	NM_001204.7(BMPR2):c.872T>G:p.Leu291Ter	coding	Pathogenic
2	202520127	G	A	G202520127A	BMPR2	NM_001204.7(BMPR2):c.893G>A:p.Trp298Ter	coding	Pathogenic
2	202520142	G	A	G202520142A	BMPR2	NM_001204.7(BMPR2):c.908G>A:p.Arg303His	coding	Pathogenic
2	202520162	A	T	A202520162T	BMPR2	NM_001204.7(BMPR2):c.928A>T:p.Arg310Ter	coding	Pathogenic
2	202520166	G	A	G202520166A	BMPR2	NM_001204.7(BMPR2):c.932G>A:p.Gly311Glu	coding	Pathogenic
2	202520171	G	C	G202520171C	BMPR2	NM_001204.7(BMPR2):c.937G>C:p.Ala313Pro	coding	Pathogenic
2	202520195	C	T	C202520195T	BMPR2	NM_001204.7(BMPR2):c.961C>T:p.Arg321Ter	coding	Pathogenic
2	202520203	T	C	T202520203C	BMPR2	NM_001204.7(BMPR2):c.967+2T>C	noncoding	Pathogenic
2	202520206	G	C	G202520206C	BMPR2	NM_001204.7(BMPR2):c.967+5G>C	noncoding	Pathogenic
2	202520206	G	T	G202520206T	BMPR2	NM_001204.7(BMPR2):c.967+5G>T	noncoding	Pathogenic
2	202530791	C	G	C202530791G	BMPR2	NM_001204.7(BMPR2):c.968-3C>G	noncoding	Pathogenic
2	202530792	A	C	A202530792C	BMPR2	NM_001204.7(BMPR2):c.968-2A>C	noncoding	Pathogenic
2	202530793	G	T	G202530793T	BMPR2	NM_001204.7(BMPR2):c.968-1G>T	noncoding	Pathogenic
2	202530807	T	C	T202530807C	BMPR2	NM_001204.7(BMPR2):c.981T>C:p.Pro327=	coding	Benign/Likely_benign
2	202530818	A	G	A202530818G	BMPR2	NM_001204.7(BMPR2):c.992A>G:p.His331Arg	coding	Pathogenic
2	202530820	C	T	C202530820T	BMPR2	NM_001204.7(BMPR2):c.994C>T:p.Arg332Ter	coding	Pathogenic
2	202530827	T	G	T202530827G	BMPR2	NM_001204.7(BMPR2):c.1001T>G:p.Leu334Ter	coding	Pathogenic
2	202530842	T	A	T202530842A	BMPR2	NM_001204.7(BMPR2):c.1016T>A:p.Val339Asp	coding	Pathogenic
2	202530845	T	C	T202530845C	BMPR2	NM_001204.7(BMPR2):c.1019T>C:p.Leu340Pro	coding	Pathogenic
2	202530865	T	C	T202530865C	BMPR2	NM_001204.7(BMPR2):c.1039T>C:p.Cys347Arg	coding	Pathogenic
2	202530866	G	A	G202530866A	BMPR2	NM_001204.7(BMPR2):c.1040G>A:p.Cys347Tyr	coding	Pathogenic
2	202530868	G	A	G202530868A	BMPR2	NM_001204.7(BMPR2):c.1042G>A:p.Val348Ile	coding	Benign/Likely_benign
2	202530952	G	T	G202530952T	BMPR2	NM_001204.7(BMPR2):c.1126G>T:p.Glu376Ter	coding	Pathogenic
2	202530955	G	A	G202530955A	BMPR2	NM_001204.7(BMPR2):c.1128+1G>A	coding	Pathogenic
2	202530955	G	C	G202530955C	BMPR2	NM_001204.7(BMPR2):c.1128+1G>C	coding	Pathogenic
2	202530955	G	T	G202530955T	BMPR2	NM_001204.7(BMPR2):c.1128+1G>T	coding	Pathogenic
2	202530956	T	G	T202530956G	BMPR2	NM_001204.7(BMPR2):c.1128+2T>G	noncoding	Pathogenic
2	202532582	C	G	C202532582G	BMPR2	NM_001204.7(BMPR2):c.1129-3C>G	noncoding	Pathogenic
2	202532602	T	G	T202532602G	BMPR2	NM_001204.7(BMPR2):c.1146T>G:p.Tyr382Ter	coding	Pathogenic
2	202532607	C	T	C202532607T	BMPR2	NM_001204.7(BMPR2):c.1151C>T:p.Ala384Val	coding	Pathogenic
2	202532612	G	A	G202532612A	BMPR2	NM_001204.7(BMPR2):c.1156G>A:p.Glu386Lys	coding	Pathogenic
2	202532612	G	C	G202532612C	BMPR2	NM_001204.7(BMPR2):c.1156G>C:p.Glu386Gln	coding	Pathogenic
2	202532613	A	C	A202532613C	BMPR2	NM_001204.7(BMPR2):c.1157A>C:p.Glu386Ala	coding	Pathogenic
2	202532613	A	G	A202532613G	BMPR2	NM_001204.7(BMPR2):c.1157A>G:p.Glu386Gly	coding	Pathogenic
2	202532613	A	T	A202532613T	BMPR2	NM_001204.7(BMPR2):c.1157A>T:p.Glu386Val	coding	Pathogenic
2	202532627	G	A	G202532627A	BMPR2	NM_001204.7(BMPR2):c.1171G>A:p.Ala391Thr	coding	Pathogenic
2	202532631	T	C	T202532631C	BMPR2	NM_001204.7(BMPR2):c.1175T>C:p.Val392Ala	coding	Pathogenic
2	202532652	C	G	C202532652G	BMPR2	NM_001204.7(BMPR2):c.1196C>G:p.Ser399Ter	coding	Pathogenic
2	202532658	T	C	T202532658C	BMPR2	NM_001204.7(BMPR2):c.1202T>C:p.Leu401Ser	coding	Pathogenic/Likely_pathogenic
2	202532663	C	T	C202532663T	BMPR2	NM_001204.7(BMPR2):c.1207C>T:p.Gln403Ter	coding	Pathogenic
2	202532676	A	C	A202532676C	BMPR2	NM_001204.7(BMPR2):c.1220A>C:p.Tyr407Ser	coding	Pathogenic
2	202532677	T	G	T202532677G	BMPR2	NM_001204.7(BMPR2):c.1221T>G:p.Tyr407Ter	coding	Pathogenic
2	202532684	G	A	G202532684A	BMPR2	NM_001204.7(BMPR2):c.1228G>A:p.Gly410Arg	coding	Pathogenic
2	202532684	G	C	G202532684C	BMPR2	NM_001204.7(BMPR2):c.1228G>C:p.Gly410Arg	coding	Pathogenic
2	202532697	G	A	G202532697A	BMPR2	NM_001204.7(BMPR2):c.1241G>A:p.Trp414Ter	coding	Pathogenic
2	202532698	G	A	G202532698A	BMPR2	NM_001204.7(BMPR2):c.1242G>A:p.Trp414Ter	coding	Pathogenic
2	202532699	G	T	G202532699T	BMPR2	NM_001204.7(BMPR2):c.1243G>T:p.Glu415Ter	coding	Pathogenic
2	202532713	A	T	A202532713T	BMPR2	NM_001204.7(BMPR2):c.1257A>T:p.Arg419Ser	coding	Pathogenic
2	202532714	T	C	T202532714C	BMPR2	NM_001204.7(BMPR2):c.1258T>C:p.Cys420Arg	coding	Pathogenic
2	202532715	G	A	G202532715A	BMPR2	NM_001204.7(BMPR2):c.1259G>A:p.Cys420Tyr	coding	Pathogenic
2	202532735	A	G	A202532735G	BMPR2	NM_001204.7(BMPR2):c.1276+3A>G	noncoding	Pathogenic
2	202532735	A	T	A202532735T	BMPR2	NM_001204.7(BMPR2):c.1276+3A>T	noncoding	Pathogenic
2	202532736	A	G	A202532736G	BMPR2	NM_001204.7(BMPR2):c.1276+4A>G	noncoding	Pathogenic
2	202542302	A	C	A202542302C	BMPR2	NM_001204.7(BMPR2):c.1277-9A>C	noncoding	Pathogenic
2	202542302	A	G	A202542302G	BMPR2	NM_001204.7(BMPR2):c.1277-9A>G	noncoding	Pathogenic
2	202542303	A	G	A202542303G	BMPR2	NM_001204.7(BMPR2):c.1277-8A>G	noncoding	Pathogenic
2	202542330	C	G	C202542330G	BMPR2	NM_001204.7(BMPR2):c.1296C>G:p.Tyr432Ter	coding	Pathogenic
2	202542331	C	T	C202542331T	BMPR2	NM_001204.7(BMPR2):c.1297C>T:p.Gln433Ter	coding	Pathogenic
2	202542380	T	G	T202542380G	BMPR2	NM_001204.7(BMPR2):c.1346T>G:p.Met449Arg	coding	Pathogenic
2	202542382	C	T	C202542382T	BMPR2	NM_001204.7(BMPR2):c.1348C>T:p.Gln450Ter	coding	Pathogenic
2	202542431	G	A	G202542431A	BMPR2	NM_001204.7(BMPR2):c.1397G>A:p.Trp466Ter	coding	Pathogenic
2	202542432	G	A	G202542432A	BMPR2	NM_001204.7(BMPR2):c.1398G>A:p.Trp466Ter	coding	Pathogenic
2	202542436	G	T	G202542436T	BMPR2	NM_001204.7(BMPR2):c.1402G>T:p.Glu468Ter	coding	Pathogenic
2	202542448	G	A	G202542448A	BMPR2	NM_001204.7(BMPR2):c.1413+1G>A	coding	Pathogenic
2	202542450	A	T	A202542450T	BMPR2	NM_001204.7(BMPR2):c.1413+3A>T	noncoding	Pathogenic
2	202552713	C	T	C202552713T	BMPR2	NM_001204.7(BMPR2):c.1414-3C>T	noncoding	Benign
2	202552714	A	T	A202552714T	BMPR2	NM_001204.7(BMPR2):c.1414-2A>T	noncoding	Pathogenic
2	202552726	C	A	C202552726A	BMPR2	NM_001204.7(BMPR2):c.1424C>A:p.Ser475Ter	coding	Pathogenic
2	202552734	G	T	G202552734T	BMPR2	NM_001204.7(BMPR2):c.1432G>T:p.Glu478Ter	coding	Pathogenic
2	202552743	G	T	G202552743T	BMPR2	NM_001204.7(BMPR2):c.1441G>T:p.Glu481Ter	coding	Pathogenic
2	202552749	T	C	T202552749C	BMPR2	NM_001204.7(BMPR2):c.1447T>C:p.Cys483Arg	coding	Pathogenic
2	202552753	G	A	G202552753A	BMPR2	NM_001204.7(BMPR2):c.1451G>A:p.Trp484Ter	coding	Pathogenic
2	202552755	G	A	G202552755A	BMPR2	NM_001204.7(BMPR2):c.1453G>A:p.Asp485Asn	coding	Pathogenic
2	202552756	A	G	A202552756G	BMPR2	NM_001204.7(BMPR2):c.1454A>G:p.Asp485Gly	coding	Pathogenic
2	202552758	C	T	C202552758T	BMPR2	NM_001204.7(BMPR2):c.1456C>T:p.Gln486Ter	coding	Pathogenic
2	202552762	A	T	A202552762T	BMPR2	NM_001204.7(BMPR2):c.1460A>T:p.Asp487Val	coding	Pathogenic
2	202552771	C	T	C202552771T	BMPR2	NM_001204.7(BMPR2):c.1469C>T:p.Ala490Val	coding	Pathogenic
2	202552773	C	T	C202552773T	BMPR2	NM_001204.7(BMPR2):c.1471C>T:p.Arg491Trp	coding	Pathogenic
2	202552774	G	A	G202552774A	BMPR2	NM_001204.7(BMPR2):c.1472G>A:p.Arg491Gln	coding	Pathogenic
2	202552785	C	T	C202552785T	BMPR2	NM_001204.7(BMPR2):c.1483C>T:p.Gln495Ter	coding	Pathogenic
2	202552788	T	C	T202552788C	BMPR2	NM_001204.7(BMPR2):c.1486T>C:p.Cys496Arg	coding	Pathogenic
2	202552789	G	A	G202552789A	BMPR2	NM_001204.7(BMPR2):c.1487G>A:p.Cys496Tyr	coding	Pathogenic
2	202552825	G	A	G202552825A	BMPR2	NM_001204.7(BMPR2):c.1523G>A:p.Trp508Ter	coding	Pathogenic
2	202552827	G	T	G202552827T	BMPR2	NM_001204.7(BMPR2):c.1525G>T:p.Glu509Ter	coding	Pathogenic
2	202552837	A	C	A202552837C	BMPR2	NM_001204.7(BMPR2):c.1535A>C:p.Lys512Thr	coding	Pathogenic
2	202552859	T	A	T202552859A	BMPR2	NM_001204.7(BMPR2):c.1557T>A:p.Asn519Lys	coding	Pathogenic
2	202555136	A	G	A202555136G	BMPR2	NM_001204.7(BMPR2):c.1587-116A>G	noncoding	Benign
2	202555294	T	G	T202555294G	BMPR2	NM_001204.7(BMPR2):c.1629T>G:p.Tyr543Ter	coding	Pathogenic
2	202555352	G	A	G202555352A	BMPR2	NM_001204.7(BMPR2):c.1687G>A:p.Val563Met	coding	Pathogenic
2	202555415	C	T	C202555415T	BMPR2	NM_001204.7(BMPR2):c.1750C>T:p.Arg584Ter	coding	Pathogenic
2	202555431	A	G	A202555431G	BMPR2	NM_001204.7(BMPR2):c.1766A>G:p.Tyr589Cys	coding	Benign
2	202555436	C	T	C202555436T	BMPR2	NM_001204.7(BMPR2):c.1771C>T:p.Arg591Ter	coding	Pathogenic
2	202555454	C	T	C202555454T	BMPR2	NM_001204.7(BMPR2):c.1789C>T:p.Arg597Ter	coding	Pathogenic
2	202555634	C	T	C202555634T	BMPR2	NM_001204.7(BMPR2):c.1969C>T:p.Gln657Ter	coding	Pathogenic
2	202555643	G	T	G202555643T	BMPR2	NM_001204.7(BMPR2):c.1978G>T:p.Glu660Ter	coding	Pathogenic
2	202555646	G	T	G202555646T	BMPR2	NM_001204.7(BMPR2):c.1981G>T:p.Glu661Ter	coding	Pathogenic
2	202555679	G	T	G202555679T	BMPR2	NM_001204.7(BMPR2):c.2014G>T:p.Glu672Ter	coding	Pathogenic
2	202555789	C	G	C202555789G	BMPR2	NM_001204.7(BMPR2):c.2124C>G:p.Tyr708Ter	coding	Pathogenic
2	202555823	C	T	C202555823T	BMPR2	NM_001204.7(BMPR2):c.2158C>T:p.Gln720Ter	coding	Pathogenic
2	202555989	G	A	G202555989A	BMPR2	NM_001204.7(BMPR2):c.2324G>A:p.Ser775Asn	coding	Benign
2	202556165	C	T	C202556165T	BMPR2	NM_001204.7(BMPR2):c.2500C>T:p.Gln834Ter	coding	Pathogenic
2	202556198	G	T	G202556198T	BMPR2	NM_001204.7(BMPR2):c.2533G>T:p.Glu845Ter	coding	Pathogenic
2	202556213	C	T	C202556213T	BMPR2	NM_001204.7(BMPR2):c.2548C>T:p.Gln850Ter	coding	Pathogenic
2	202556253	G	A	G202556253A	BMPR2	NM_001204.7(BMPR2):c.2588G>A:p.Ser863Asn	coding	Pathogenic
2	202556282	C	T	C202556282T	BMPR2	NM_001204.7(BMPR2):c.2617C>T:p.Arg873Ter	coding	Pathogenic
2	202556285	G	T	G202556285T	BMPR2	NM_001204.7(BMPR2):c.2620G>T:p.Glu874Ter	coding	Pathogenic
2	202556291	C	T	C202556291T	BMPR2	NM_001204.7(BMPR2):c.2626C>T:p.Gln876Ter	coding	Pathogenic
2	202556360	C	T	C202556360T	BMPR2	NM_001204.7(BMPR2):c.2695C>T:p.Arg899Ter	coding	Pathogenic
2	202556361	G	C	G202556361C	BMPR2	NM_001204.7(BMPR2):c.2696G>C:p.Arg899Pro	coding	Pathogenic
2	202556373	A	G	A202556373G	BMPR2	NM_001204.7(BMPR2):c.2708A>G:p.Asn903Ser	coding	Pathogenic/Likely_pathogenic
2	202556395	T	A	T202556395A	BMPR2	NM_001204.7(BMPR2):c.2730T>A:p.Cys910Ter	coding	Pathogenic
2	202556402	C	T	C202556402T	BMPR2	NM_001204.7(BMPR2):c.2737C>T:p.Gln913Ter	coding	Pathogenic
2	202556413	T	C	T202556413C	BMPR2	NM_001204.7(BMPR2):c.2748T>C:p.Leu916=	coding	Benign
2	202556417	C	T	C202556417T	BMPR2	NM_001204.7(BMPR2):c.2752C>T:p.Gln918Ter	coding	Pathogenic
2	202556454	C	G	C202556454G	BMPR2	NM_001204.7(BMPR2):c.2789C>G:p.Ser930Ter	coding	Pathogenic
2	202556476	G	A	G202556476A	BMPR2	NM_001204.7(BMPR2):c.2811G>A:p.Arg937=	coding	Benign
2	202559774	A	G	A202559774G	BMPR2	NM_001204.7(BMPR2):c.2945A>G:p.Lys982Arg	coding	Pathogenic
2	202560052	C	T	C202560052T	BMPR2	NM_001204.7(BMPR2):c.*106C>T	noncoding	Benign
2	202560076	G	C	G202560076C	BMPR2	NM_001204.7(BMPR2):c.*130G>C	noncoding	Benign
2	202560167	C	T	C202560167T	BMPR2	NM_001204.7(BMPR2):c.*221C>T	noncoding	Benign
2	202560324	T	G	T202560324G	BMPR2	NM_001204.7(BMPR2):c.*378T>G	noncoding	Benign
2	202560567	G	A	G202560567A	BMPR2	NM_001204.7(BMPR2):c.*621G>A	noncoding	Benign
2	202560752	C	T	C202560752T	BMPR2	NM_001204.7(BMPR2):c.*806C>T	noncoding	Benign
2	202560941	G	A	G202560941A	BMPR2	NM_001204.7(BMPR2):c.*995G>A	noncoding	Benign
2	202561172	C	A	C202561172A	BMPR2	NM_001204.7(BMPR2):c.*1226C>A	noncoding	Benign
2	202561182	C	A	C202561182A	BMPR2	NM_001204.7(BMPR2):c.*1236C>A	noncoding	Benign
2	202561252	A	C	A202561252C	BMPR2	NM_001204.7(BMPR2):c.*1306A>C	noncoding	Benign
2	202561412	T	G	T202561412G	BMPR2	NM_001204.7(BMPR2):c.*1466T>G	noncoding	Benign
2	202561678	T	C	T202561678C	BMPR2	NM_001204.7(BMPR2):c.*1732T>C	noncoding	Benign
2	202561917	C	T	C202561917T	BMPR2	NM_001204.7(BMPR2):c.*1971C>T	noncoding	Benign
2	202561945	T	G	T202561945G	BMPR2	NM_001204.7(BMPR2):c.*1999T>G	noncoding	Benign
2	202562119	A	G	A202562119G	BMPR2	NM_001204.7(BMPR2):c.*2173A>G	noncoding	Benign
2	202562715	T	A	T202562715A	BMPR2	NM_001204.7(BMPR2):c.*2769T>A	noncoding	Benign
2	202562847	A	C	A202562847C	BMPR2	NM_001204.7(BMPR2):c.*2901A>C	noncoding	Benign
2	202562885	A	G	A202562885G	BMPR2	NM_001204.7(BMPR2):c.*2939A>G	noncoding	Benign
2	202563007	A	G	A202563007G	BMPR2	NM_001204.7(BMPR2):c.*3061A>G	noncoding	Benign
2	202563853	G	C	G202563853C	BMPR2	NM_001204.7(BMPR2):c.*3907G>C	noncoding	Benign
2	202564530	T	A	T202564530A	BMPR2	NM_001204.7(BMPR2):c.*4584T>A	noncoding	Benign
2	202564849	A	C	A202564849C	BMPR2	NM_001204.7(BMPR2):c.*4903A>C	noncoding	Benign
2	202564851	C	A	C202564851A	BMPR2	NM_001204.7(BMPR2):c.*4905C>A	noncoding	Benign
2	202565073	C	T	C202565073T	BMPR2	NM_001204.7(BMPR2):c.*5127C>T	noncoding	Benign
2	202565189	T	C	T202565189C	BMPR2	NM_001204.7(BMPR2):c.*5243T>C	noncoding	Benign
2	202565733	T	G	T202565733G	BMPR2	NM_001204.7(BMPR2):c.*5787T>G	noncoding	Benign
2	202565944	G	A	G202565944A	BMPR2	NM_001204.7(BMPR2):c.*5998G>A	noncoding	Benign
2	202566054	G	T	G202566054T	BMPR2	NM_001204.7(BMPR2):c.*6108G>T	noncoding	Benign
2	202566300	C	A	C202566300A	BMPR2	NM_001204.7(BMPR2):c.*6354C>A	noncoding	Benign
2	202566641	C	T	C202566641T	BMPR2	NM_001204.7(BMPR2):c.*6695C>T	noncoding	Benign
2	202566825	A	G	A202566825G	BMPR2	NM_001204.7(BMPR2):c.*6879A>G	noncoding	Benign
2	202567081	A	G	A202567081G	BMPR2	NM_001204.7(BMPR2):c.*7135A>G	noncoding	Benign
2	202567252	A	G	A202567252G	BMPR2	NM_001204.7(BMPR2):c.*7306A>G	noncoding	Benign
2	202567334	C	T	C202567334T	BMPR2	NM_001204.7(BMPR2):c.*7388C>T	noncoding	Benign
2	202567442	T	C	T202567442C	BMPR2	NM_001204.7(BMPR2):c.*7496T>C	noncoding	Benign
2	202567722	C	T	C202567722T	BMPR2	NM_001204.7(BMPR2):c.*7776C>T	noncoding	Benign
2	202969913	A	T	A202969913T	CARF	NM_024744.17(CARF):c.954-6A>T	noncoding	Benign
2	202974364	C	T	C202974364T	CARF	NM_024744.17(CARF):c.1362C>T:p.Pro454=	coding	Benign
2	202977292	G	A	G202977292A	CARF	NM_024744.17(CARF):c.1518G>A:p.Gly506=	coding	Benign
2	202982142	C	T	C202982142T	CARF	NM_024744.17(CARF):c.1760C>T:p.Pro587Leu	coding	Benign
2	202983619	A	G	A202983619G	CARF	NM_024744.17(CARF):c.2173A>G:p.Thr725Ala	coding	Benign
2	203057352	A	G	A203057352G	NBEAL1	NM_001114132.1(NBEAL1):c.414A>G:p.Glu138=	coding	Benign
2	203107796	G	A	G203107796A	NBEAL1	NM_001114132.1(NBEAL1):c.1470G>A:p.Gly490=	coding	Benign
2	203113065	T	C	T203113065C	NBEAL1	NM_001114132.1(NBEAL1):c.2166T>C:p.Pro722=	coding	Benign
2	203130355	G	A	G203130355A	NBEAL1	NM_001114132.1(NBEAL1):c.3356G>A:p.Arg1119His	coding	Benign
2	203132011	G	A	G203132011A	NBEAL1	NM_001114132.1(NBEAL1):c.3516G>A:p.Glu1172=	coding	Benign
2	203144736	A	T	A203144736T	NBEAL1	NM_001114132.1(NBEAL1):c.4898A>T:p.Tyr1633Phe	coding	Benign
2	203172719	G	T	G203172719T	NBEAL1	NM_001114132.1(NBEAL1):c.6112-10G>T	noncoding	Benign
2	203193834	C	G	C203193834G	NBEAL1	NM_001114132.1(NBEAL1):c.6874C>G:p.Gln2292Glu	coding	Benign
2	203201533	G	A	G203201533A	NBEAL1	NM_001114132.1(NBEAL1):c.7152-10G>A	noncoding	Benign
2	203208712	G	A	G203208712A	NBEAL1	NM_001114132.1(NBEAL1):c.7495G>A:p.Gly2499Ser	coding	Benign
2	203289852	T	G	T203289852G	CYP20A1	NM_177538.3(CYP20A1):c.1059T>G:p.Ile353Met	coding	Benign
2	203296499	G	A	G203296499A	CYP20A1	NM_177538.3(CYP20A1):c.1174G>A:p.Glu392Lys	coding	Benign
2	203726685	G	A	G203726685A	CD28	NM_006139.4(CD28):c.105G>A:p.Ala35=	coding	Benign
2	203867991	A	G	A203867991G	CTLA4	NM_005214.5(CTLA4):c.49A>G:p.Thr17Ala	coding	Benign
2	203868002	G	A	G203868002A	CTLA4	NM_005214.5(CTLA4):c.60G>A:p.Trp20Ter	coding	Pathogenic
2	203868017	G	C	G203868017C	CTLA4	NM_005214.5(CTLA4):c.75G>C:p.Leu25=	coding	Benign
2	203868047	C	A	C203868047A	CTLA4	NM_005214.5(CTLA4):c.105C>A:p.Cys35Ter	coding	Pathogenic
2	203870627	C	T	C203870627T	CTLA4	NM_005214.5(CTLA4):c.151C>T:p.Arg51Ter	coding	Pathogenic
2	203870699	C	T	C203870699T	CTLA4	NM_005214.5(CTLA4):c.223C>T:p.Arg75Trp	coding	Pathogenic
2	203870825	C	T	C203870825T	CTLA4	NM_005214.5(CTLA4):c.349C>T:p.Gln117Ter	coding	Pathogenic
2	203870888	C	A	C203870888A	CTLA4	NM_005214.5(CTLA4):c.412C>A:p.Pro138Thr	coding	Pathogenic
2	203870892	A	G	A203870892G	CTLA4	NM_005214.5(CTLA4):c.416A>G:p.Tyr139Cys	coding	Pathogenic
2	203870896	C	A	C203870896A	CTLA4	NM_005214.5(CTLA4):c.420C>A:p.Tyr140Ter	coding	Pathogenic
2	203871377	G	T	G203871377T	CTLA4	NM_005214.5(CTLA4):c.458-1G>T	noncoding	Pathogenic
2	203871492	G	C	G203871492C	CTLA4	NM_005214.5(CTLA4):c.567+5G>C	noncoding	Pathogenic
2	203936854	C	T	C203936854T	ICOS	NM_012092.3(ICOS):c.40C>T:p.Arg14Cys	coding	Benign
2	203955727	A	G	A203955727G	ICOS	NM_012092.3(ICOS):c.150A>G:p.Gln50=	coding	Benign
2	203956771	C	T	C203956771T	ICOS	NM_012092.4(ICOS):c.501+6C>T	noncoding	Benign
2	203956772	G	A	G203956772A	ICOS	NM_012092.3(ICOS):c.501+7G>A	noncoding	Benign
2	203959601	A	C	A203959601C	ICOS	NM_012092.4(ICOS):c.*2A>C	noncoding	Benign
2	203959632	T	C	T203959632C	ICOS	NM_012092.3(ICOS):c.*33T>C	noncoding	Benign
2	203959929	G	A	G203959929A	ICOS	NM_012092.3(ICOS):c.*330G>A	noncoding	Benign
2	203960454	T	C	T203960454C	ICOS	NM_012092.3(ICOS):c.*855T>C	noncoding	Benign
2	203960458	A	T	A203960458T	ICOS	NM_012092.3(ICOS):c.*859A>T	noncoding	Benign
2	203960563	T	C	T203960563C	ICOS	NM_012092.3(ICOS):c.*964T>C	noncoding	Benign
2	203960623	C	T	C203960623T	ICOS	NM_012092.3(ICOS):c.*1024C>T	noncoding	Benign
2	203960694	A	G	A203960694G	ICOS	NM_012092.3(ICOS):c.*1095A>G	noncoding	Benign
2	203960848	G	A	G203960848A	ICOS	NM_012092.3(ICOS):c.*1249G>A	noncoding	Benign
2	203960861	A	G	A203960861G	ICOS	NM_012092.3(ICOS):c.*1262A>G	noncoding	Benign
2	203961006	G	A	G203961006A	ICOS	NM_012092.3(ICOS):c.*1407G>A	noncoding	Benign
2	203961372	G	C	G203961372C	ICOS	NM_012092.3(ICOS):c.*1773G>C	noncoding	Benign
2	204686210	C	T	C204686210T	PARD3B	NM_001302769.2(PARD3B):c.150C>T:p.His50=	coding	Benign
2	205697593	C	T	C205697593T	NRP2	NM_003872.3(NRP2):c.123C>T:p.Thr41=	coding	Benign
2	205716309	A	G	A205716309G	NRP2	NM_003872.3(NRP2):c.368A>G:p.Lys123Arg	coding	Benign
2	205716328	C	A	C205716328A	NRP2	NM_003872.3(NRP2):c.387C>A:p.Ala129=	coding	Benign
2	205723846	G	A	G205723846A	NRP2	NM_003872.3(NRP2):c.726G>A:p.Thr242=	coding	Benign
2	205725952	G	A	G205725952A	NRP2	NM_003872.3(NRP2):c.860G>A:p.Arg287Gln	coding	Benign
2	205726054	A	T	A205726054T	NRP2	NM_003872.3(NRP2):c.962A>T:p.Asn321Ile	coding	Benign
2	205740521	A	G	A205740521G	NRP2	NM_003872.3(NRP2):c.1149A>G:p.Val383=	coding	Benign
2	205743360	C	T	C205743360T	NRP2	NM_003872.3(NRP2):c.1449C>T:p.Pro483=	coding	Benign
2	205745841	G	A	G205745841A	NRP2	NM_003872.3(NRP2):c.1737G>A:p.Ser579=	coding	Benign
2	205794956	C	T	C205794956T	NRP2	NM_003872.3(NRP2):c.2679C>T:p.Ser893=	coding	Benign
2	206009583	T	C	T206009583C	INO80D	NM_017759.5(INO80D):c.1754A>G:p.His585Arg	coding	Benign
2	206056266	C	T	C206056266T	INO80D	NM_017759.5(INO80D):c.896G>A:p.Arg299Gln	coding	Benign
2	206123452	T	C	T206123452C	NDUFS1	NM_005006.7(NDUFS1):c.*733A>G	noncoding	Benign
2	206123611	A	C	A206123611C	NDUFS1	NM_005006.7(NDUFS1):c.*574T>G	noncoding	Benign/Likely_benign
2	206123728	A	T	A206123728T	NDUFS1	NM_005006.7(NDUFS1):c.*457T>A	noncoding	Benign
2	206123786	C	T	C206123786T	NDUFS1	NM_005006.7(NDUFS1):c.*399G>A	noncoding	Benign/Likely_benign
2	206123849	C	A	C206123849A	NDUFS1	NM_005006.7(NDUFS1):c.*336G>T	noncoding	Benign
2	206124027	A	G	A206124027G	NDUFS1	NM_005006.7(NDUFS1):c.*158T>C	noncoding	Benign/Likely_benign
2	206124132	A	C	A206124132C	NDUFS1	NM_005006.7(NDUFS1):c.*53T>G	noncoding	Benign/Likely_benign
2	206124446	C	A	C206124446A	NDUFS1	NM_005006.7(NDUFS1):c.2093-170G>T	noncoding	Benign
2	206126260	A	G	A206126260G	NDUFS1	NM_005006.7(NDUFS1):c.2092+279T>C	noncoding	Benign
2	206126692	T	A	T206126692A	NDUFS1	NM_005006.7(NDUFS1):c.2019+18A>T	noncoding	Benign
2	206127826	C	T	C206127826T	NDUFS1	NM_005006.7(NDUFS1):c.1855G>A:p.Asp619Asn	coding	Pathogenic
2	206127898	T	C	T206127898C	NDUFS1	NM_005006.7(NDUFS1):c.1783A>G:p.Thr595Ala	coding	Pathogenic
2	206130127	G	A	G206130127A	NDUFS1	NM_005006.7(NDUFS1):c.1669C>T:p.Arg557Ter	coding	Pathogenic
2	206132695	G	A	G206132695A	NDUFS1	NM_005006.7(NDUFS1):c.1553+250C>T	noncoding	Benign
2	206133107	T	G	T206133107G	NDUFS1	NM_005006.7(NDUFS1):c.1393-2A>C	noncoding	Pathogenic
2	206133112	A	T	A206133112T	NDUFS1	NM_005006.7(NDUFS1):c.1393-7T>A	noncoding	Benign/Likely_benign
2	206133326	A	G	A206133326G	NDUFS1	NM_005006.7(NDUFS1):c.1393-221T>C	noncoding	Benign
2	206141952	T	C	T206141952C	NDUFS1	NM_005006.7(NDUFS1):c.1251A>G:p.Arg417=	coding	Benign
2	206142403	C	T	C206142403T	NDUFS1	NM_005006.7(NDUFS1):c.1133+283G>A	noncoding	Benign
2	206142453	G	A	G206142453A	NDUFS1	NM_005006.7(NDUFS1):c.1133+233C>T	noncoding	Benign
2	206142666	C	T	C206142666T	NDUFS1	NM_005006.7(NDUFS1):c.1133+20G>A	noncoding	Benign
2	206142790	A	C	A206142790C	NDUFS1	NM_005006.7(NDUFS1):c.1029T>G:p.Gly343=	coding	Benign
2	206144030	G	A	G206144030A	NDUFS1	NM_005006.7(NDUFS1):c.975C>T:p.Arg325=	coding	Benign/Likely_benign
2	206144039	C	A	C206144039A	NDUFS1	NM_005006.7(NDUFS1):c.966G>T:p.Ala322=	coding	Benign
2	206145009	T	C	T206145009C	NDUFS1	NM_005006.7(NDUFS1):c.755A>G:p.Asp252Gly	coding	Pathogenic
2	206146919	G	A	G206146919A	NDUFS1	NM_005006.7(NDUFS1):c.721C>T:p.Arg241Trp	coding	Pathogenic
2	206146949	G	C	G206146949C	NDUFS1	NM_005006.7(NDUFS1):c.691C>G:p.Leu231Val	coding	Pathogenic
2	206146957	A	G	A206146957G	NDUFS1	NM_005006.7(NDUFS1):c.683T>C:p.Val228Ala	coding	Pathogenic/Likely_pathogenic
2	206147517	G	T	G206147517T	NDUFS1	NM_005006.7(NDUFS1):c.551+14C>A	noncoding	Benign/Likely_benign
2	206147759	A	G	A206147759G	NDUFS1	NM_005006.7(NDUFS1):c.414T>C:p.Asp138=	coding	Benign/Likely_benign
2	206152449	G	A	G206152449A	NDUFS1	NM_005006.7(NDUFS1):c.123C>T:p.Val41=	coding	Benign/Likely_benign
2	206152508	G	A	G206152508A	NDUFS1	NM_005006.7(NDUFS1):c.64C>T:p.Arg22Ter	coding	Pathogenic
2	206159383	G	C	G206159383C	NDUFS1	NM_005006.7(NDUFS1):c.-47C>G	noncoding	Benign
2	206161480	G	A	G206161480A	EEF1B2	NM_001959.4(EEF1B2):c.330+8G>A	noncoding	Benign
2	206162090	C	A	C206162090A	EEF1B2	NM_001959.4(EEF1B2):c.383C>A:p.Ser128Ter	coding	Pathogenic
2	206305278	G	A	G206305278A	ZDBF2	NM_020923.3(ZDBF2):c.750G>A:p.Ser250=	coding	Benign
2	206305280	A	G	A206305280G	ZDBF2	NM_020923.3(ZDBF2):c.752A>G:p.Tyr251Cys	coding	Benign
2	206305316	G	A	G206305316A	ZDBF2	NM_020923.3(ZDBF2):c.788G>A:p.Arg263His	coding	Benign
2	206305473	G	T	G206305473T	ZDBF2	NM_020923.3(ZDBF2):c.945G>T:p.Met315Ile	coding	Benign
2	206305620	G	T	G206305620T	ZDBF2	NM_020923.3(ZDBF2):c.1092G>T:p.Met364Ile	coding	Benign
2	206306010	G	A	G206306010A	ZDBF2	NM_020923.3(ZDBF2):c.1482G>A:p.Thr494=	coding	Benign
2	206306378	G	A	G206306378A	ZDBF2	NM_020923.3(ZDBF2):c.1850G>A:p.Arg617His	coding	Benign
2	206306587	C	T	C206306587T	ZDBF2	NM_020923.3(ZDBF2):c.2059C>T:p.Arg687Cys	coding	Benign
2	206308046	A	G	A206308046G	ZDBF2	NM_020923.3(ZDBF2):c.3518A>G:p.Asn1173Ser	coding	Benign
2	206308165	C	T	C206308165T	ZDBF2	NM_020923.3(ZDBF2):c.3637C>T:p.Arg1213Trp	coding	Benign
2	206309296	A	G	A206309296G	ZDBF2	NM_020923.3(ZDBF2):c.4768A>G:p.Thr1590Ala	coding	Benign
2	206309685	G	A	G206309685A	ZDBF2	NM_020923.3(ZDBF2):c.5157G>A:p.Ala1719=	coding	Benign
2	206310483	C	A	C206310483A	ZDBF2	NM_020923.3(ZDBF2):c.5955C>A:p.Val1985=	coding	Benign
2	206310752	G	T	G206310752T	ZDBF2	NM_020923.3(ZDBF2):c.6224G>T:p.Arg2075Met	coding	Benign
2	206588163	C	T	C206588163T	ADAM23	NM_003812.4(ADAM23):c.1852+9C>T	noncoding	Benign
2	206594737	T	C	T206594737C	ADAM23	NM_003812.4(ADAM23):c.2079T>C:p.Ser693=	coding	Benign
2	206596141	C	G	C206596141G	ADAM23	NM_003812.4(ADAM23):c.2338C>G:p.Pro780Ala	coding	Benign
2	206765614	C	T	C206765614T	FASTKD2	NM_001136193.2(FASTKD2):c.-184C>T	noncoding	Benign
2	206765636	C	T	C206765636T	FASTKD2	NM_001136193.2(FASTKD2):c.-162C>T	noncoding	Benign/Likely_benign
2	206765747	A	G	A206765747G	FASTKD2	NM_001136193.2(FASTKD2):c.-51A>G	noncoding	Benign/Likely_benign
2	206766737	G	A	G206766737A	FASTKD2	NM_001136193.2(FASTKD2):c.44G>A:p.Ser15Asn	coding	Benign
2	206766885	T	C	T206766885C	FASTKD2	NM_001136193.2(FASTKD2):c.192T>C:p.Phe64=	coding	Benign
2	206767306	C	T	C206767306T	FASTKD2	NM_001136193.2(FASTKD2):c.613C>T:p.Arg205Ter	coding	Pathogenic
2	206767449	G	A	G206767449A	FASTKD2	NM_001136193.2(FASTKD2):c.756G>A:p.Gln252=	coding	Benign/Likely_benign
2	206767457	T	C	T206767457C	FASTKD2	NM_001136193.2(FASTKD2):c.764T>C:p.Leu255Pro	coding	Pathogenic
2	206767488	T	C	T206767488C	FASTKD2	NM_001136193.2(FASTKD2):c.777+18T>C	noncoding	Benign
2	206770181	C	T	C206770181T	FASTKD2	NM_001136193.2(FASTKD2):c.868C>T:p.Arg290Ter	coding	Pathogenic
2	206770870	G	T	G206770870T	FASTKD2	NM_001136193.2(FASTKD2):c.882-312G>T	noncoding	Benign
2	206771057	G	A	G206771057A	FASTKD2	NM_001136193.2(FASTKD2):c.882-125G>A	noncoding	Benign
2	206771881	G	A	G206771881A	FASTKD2	NM_001136193.2(FASTKD2):c.991-13G>A	noncoding	Benign
2	206771993	G	A	G206771993A	FASTKD2	NM_001136193.2(FASTKD2):c.1090G>A:p.Asp364Asn	coding	Benign/Likely_benign
2	206772253	A	G	A206772253G	FASTKD2	NM_001136193.2(FASTKD2):c.1187A>G:p.Asn396Ser	coding	Benign/Likely_benign
2	206772329	A	C	A206772329C	FASTKD2	NM_001136193.2(FASTKD2):c.1254+9A>C	noncoding	Benign/Likely_benign
2	206774170	A	C	A206774170C	FASTKD2	NM_001136193.2(FASTKD2):c.1255-55A>C	noncoding	Benign
2	206774264	C	T	C206774264T	FASTKD2	NM_001136193.2(FASTKD2):c.1294C>T:p.Arg432Ter	coding	Pathogenic
2	206787058	G	A	G206787058A	FASTKD2	NM_001136193.2(FASTKD2):c.1594+159G>A	noncoding	Benign
2	206788032	C	T	C206788032T	FASTKD2	NM_001136193.2(FASTKD2):c.1690C>T:p.Gln564Ter	coding	Pathogenic
2	206788977	G	A	G206788977A	FASTKD2	NM_001136193.2(FASTKD2):c.1898+74G>A	noncoding	Benign
2	206789046	A	G	A206789046G	FASTKD2	NM_001136193.2(FASTKD2):c.1898+143A>G	noncoding	Benign
2	206790837	A	C	A206790837C	FASTKD2	NM_001136193.2(FASTKD2):c.2013+151A>C	noncoding	Benign
2	206791811	T	C	T206791811C	FASTKD2	NM_001136193.2(FASTKD2):c.*9T>C	noncoding	Benign
2	206792359	A	G	A206792359G	FASTKD2	NM_001136193.2(FASTKD2):c.*557A>G	noncoding	Benign
2	206792429	T	C	T206792429C	FASTKD2	NM_001136193.2(FASTKD2):c.*627T>C	noncoding	Benign
2	206792474	T	A	T206792474A	FASTKD2	NM_001136193.2(FASTKD2):c.*672T>A	noncoding	Benign
2	206793871	T	A	T206793871A	FASTKD2	NM_001136193.2(FASTKD2):c.*2069T>A	noncoding	Benign
2	206794290	T	C	T206794290C	FASTKD2	NM_001136193.2(FASTKD2):c.*2488T>C	noncoding	Benign
2	206794807	A	G	A206794807G	FASTKD2	NM_001136193.2(FASTKD2):c.*3005A>G	noncoding	Benign
2	207088517	G	A	G207088517A	KLF7	NM_003709.4(KLF7):c.798C>T:p.Leu266=	coding	Benign
2	207088525	C	T	C207088525T	KLF7	NM_003709.4(KLF7):c.790G>A:p.Asp264Asn	coding	Pathogenic/Likely_pathogenic
2	207124261	G	A	G207124261A	KLF7	NM_003709.4(KLF7):c.246C>T:p.Leu82=	coding	Benign
2	207560327	G	A	G207560327A	CREB1	NM_004379.5(CREB1):c.216G>A:p.Ala72=	coding	Benign
2	207575339	A	G	A207575339G	CREB1	NM_004379.5(CREB1):c.573A>G:p.Gln191=	coding	Benign
2	207575348	C	G	C207575348G	CREB1	NM_004379.5(CREB1):c.582C>G:p.Thr194=	coding	Benign
2	207597017	C	T	C207597017T	CREB1	NM_004379.5(CREB1):c.943C>T:p.Leu315=	coding	Benign
2	207767024	G	A	G207767024A	FZD5	NM_003468.4(FZD5):c.1716C>T:p.Pro572=	coding	Benign
2	207767060	G	A	G207767060A	FZD5	NM_003468.4(FZD5):c.1680C>T:p.Ser560=	coding	Benign
2	207767209	G	A	G207767209A	FZD5	NM_003468.4(FZD5):c.1531C>T:p.Leu511=	coding	Benign
2	207767372	G	A	G207767372A	FZD5	NM_003468.4(FZD5):c.1368C>T:p.Leu456=	coding	Benign
2	207767503	G	A	G207767503A	FZD5	NM_003468.4(FZD5):c.1237C>T:p.Leu413=	coding	Benign
2	207768650	G	A	G207768650A	FZD5	NM_003468.4(FZD5):c.90C>T:p.Ala30=	coding	Benign
2	208121661	A	G	A208121661G	CRYGD	NM_006891.4(CRYGD):c.*12T>C	noncoding	Benign
2	208121699	G	A	G208121699A	CRYGD	NM_006891.4(CRYGD):c.499C>T:p.Leu167=	coding	Benign
2	208121719	G	A	G208121719A	CRYGD	NM_006891.4(CRYGD):c.479C>T:p.Thr160Met	coding	Benign
2	208121728	C	T	C208121728T	CRYGD	NM_006891.4(CRYGD):c.470G>A:p.Trp157Ter	coding	Pathogenic
2	208121780	G	A	G208121780A	CRYGD	NM_006891.4(CRYGD):c.418C>T:p.Arg140Ter	coding	Pathogenic
2	208121796	G	T	G208121796T	CRYGD	NM_006891.4(CRYGD):c.402C>A:p.Tyr134Ter	coding	Pathogenic
2	208121822	C	T	C208121822T	CRYGD	NM_006891.4(CRYGD):c.376G>A:p.Val126Met	coding	Benign
2	208121913	T	C	T208121913C	CRYGD	NM_006891.4(CRYGD):c.285A>G:p.Arg95=	coding	Benign
2	208124102	A	T	A208124102T	CRYGD	NM_006891.4(CRYGD):c.252+10T>A	noncoding	Benign
2	208124105	T	C	T208124105C	CRYGD	NM_006891.4(CRYGD):c.252+7A>G	noncoding	Benign
2	208124172	G	C	G208124172C	CRYGD	NM_006891.4(CRYGD):c.192C>G:p.Ala64=	coding	Benign
2	208124175	A	G	A208124175G	CRYGD	NM_006891.4(CRYGD):c.189T>C:p.Tyr63=	coding	Benign/Likely_benign
2	208124188	C	T	C208124188T	CRYGD	NM_006891.4(CRYGD):c.176G>A:p.Arg59His	coding	Pathogenic
2	208124234	T	C	T208124234C	CRYGD	NM_006891.4(CRYGD):c.130A>G:p.Met44Val	coding	Benign
2	208124255	G	T	G208124255T	CRYGD	NM_006891.4(CRYGD):c.109C>A:p.Arg37Ser	coding	Pathogenic
2	208124294	G	A	G208124294A	CRYGD	NM_006891.4(CRYGD):c.70C>T:p.Pro24Ser	coding	Pathogenic
2	208124294	G	T	G208124294T	CRYGD	NM_006891.4(CRYGD):c.70C>A:p.Pro24Thr	coding	Pathogenic
2	208124301	G	A	G208124301A	CRYGD	NM_006891.4(CRYGD):c.63C>T:p.Ser21=	coding	Benign
2	208124313	A	G	A208124313G	CRYGD	NM_006891.4(CRYGD):c.51T>C:p.Tyr17=	coding	Benign
2	208124321	G	A	G208124321A	CRYGD	NM_006891.4(CRYGD):c.43C>T:p.Arg15Cys	coding	Pathogenic
2	208124361	G	C	G208124361C	CRYGD	NM_006891.4(CRYGD):c.10-7C>G	noncoding	Benign
2	208124445	G	A	G208124445A	CRYGD	NM_006891.4(CRYGD):c.9+20C>T	noncoding	Benign
2	208124450	G	A	G208124450A	CRYGD	NM_006891.4(CRYGD):c.9+15C>T	noncoding	Benign
2	208124512	G	A	G208124512A	CRYGD	NM_006891.4(CRYGD):c.-39C>T	noncoding	Benign
2	208124513	G	A	G208124513A	CRYGD	NM_006891.4(CRYGD):c.-40C>T	noncoding	Benign
2	208128231	G	A	G208128231A	CRYGC	NM_020989.4(CRYGC):c.497C>T:p.Ser166Phe	coding	Pathogenic
2	208128257	C	T	C208128257T	CRYGC	NM_020989.4(CRYGC):c.471G>A:p.Trp157Ter	coding	Pathogenic
2	208128258	C	T	C208128258T	CRYGC	NM_020989.4(CRYGC):c.470G>A:p.Trp157Ter	coding	Pathogenic
2	208128296	G	C	G208128296C	CRYGC	NM_020989.4(CRYGC):c.432C>G:p.Tyr144Ter	coding	Pathogenic
2	208128301	G	A	G208128301A	CRYGC	NM_020989.4(CRYGC):c.427C>T:p.Gln143Ter	coding	Pathogenic
2	208128326	G	C	G208128326C	CRYGC;LOC100507443	NM_020989.4(CRYGC):c.402C>G:p.Tyr134Ter	coding	Pathogenic
2	208128343	C	A	C208128343A	CRYGC	NM_020989.4(CRYGC):c.385G>T:p.Gly129Cys	coding	Pathogenic
2	208128371	G	A	G208128371A	CRYGC	NM_020989.4(CRYGC):c.357C>T:p.Ser119=	coding	Benign
2	208128411	C	T	C208128411T	CRYGC	NM_020989.4(CRYGC):c.317G>A:p.Ser106Asn	coding	Benign
2	208129550	C	T	C208129550T	CRYGC	NM_020989.4(CRYGC):c.143G>A:p.Arg48His	coding	Benign
2	208129570	G	A	G208129570A	CRYGC	NM_020989.4(CRYGC):c.123C>T:p.Gly41=	coding	Benign
2	208129573	G	A	G208129573A	CRYGC	NM_020989.4(CRYGC):c.120C>T:p.Ser40=	coding	Benign
2	208129609	C	T	C208129609T	CRYGC	NM_020989.4(CRYGC):c.84G>A:p.Pro28=	coding	Benign
2	208129680	T	G	T208129680G	CRYGC	NM_020989.4(CRYGC):c.13A>C:p.Thr5Pro	coding	Pathogenic
2	208129693	A	G	A208129693G	CRYGC	NM_020989.4(CRYGC):c.10-10T>C	noncoding	Benign
2	208142653	G	A	G208142653A	CRYGB	NM_005210.4(CRYGB):c.513C>T:p.Val171=	coding	Benign
2	208142835	T	G	T208142835G	CRYGB	NM_005210.4(CRYGB):c.331A>C:p.Ile111Leu	coding	Benign
2	208142854	T	C	T208142854C	CRYGB	NM_005210.4(CRYGB):c.312A>G:p.Ser104=	coding	Benign
2	208145834	A	G	A208145834G	CRYGB	NM_005210.4(CRYGB):c.192T>C:p.Pro64=	coding	Benign
2	208145851	G	A	G208145851A	CRYGB	NM_005210.4(CRYGB):c.175C>T:p.Arg59Trp	coding	Benign
2	208161034	G	A	G208161034A	CRYGA	NM_014617.4(CRYGA):c.295C>T:p.Arg99Ter	coding	Benign
2	208163217	C	T	C208163217T	CRYGA	NM_014617.4(CRYGA):c.239G>A:p.Arg80His	coding	Pathogenic
2	208237174	C	T	C208237174T	IDH1	NM_001282386.1(IDH1):c.1155-5G>A	noncoding	Benign
2	208242136	C	T	C208242136T	IDH1	NM_001282386.1(IDH1):c.708G>A:p.Lys236=	coding	Benign
2	208242151	A	G	A208242151G	IDH1	NM_001282386.1(IDH1):c.699-6T>C	noncoding	Benign
2	208243593	C	T	C208243593T	IDH1	NM_005896.4(IDH1):c.532G>A:p.Val178Ile	coding	Benign
2	208245428	T	C	T208245428C	IDH1	NM_001282386.1(IDH1):c.415-4A>G	noncoding	Benign
2	208248388	C	A	C208248388A	IDH1	NM_001282386.1(IDH1):c.395G>T:p.Arg132Leu	coding	Pathogenic/Likely_pathogenic
2	208248388	C	G	C208248388G	IDH1	NM_001282386.1(IDH1):c.395G>C:p.Arg132Pro	coding	Pathogenic
2	208248388	C	T	C208248388T	IDH1	NM_001282386.1(IDH1):c.395G>A:p.Arg132His	coding	Pathogenic
2	208248389	G	C	G208248389C	IDH1	NM_001282386.1(IDH1):c.394C>G:p.Arg132Gly	coding	Pathogenic/Likely_pathogenic
2	208248389	G	T	G208248389T	IDH1	NM_001282386.1(IDH1):c.394C>A:p.Arg132Ser	coding	Pathogenic/Likely_pathogenic
2	208248468	G	A	G208248468A	IDH1	NM_005896.4(IDH1):c.315C>T:p.Gly105=	coding	Benign
2	208248572	C	T	C208248572T	IDH1	NM_001282386.1(IDH1):c.211G>A:p.Val71Ile	coding	Benign
2	208248664	G	A	G208248664A	IDH1	NM_001282386.1(IDH1):c.123-4C>T	noncoding	Benign
2	208266265	A	G	A208266265G	PIKFYVE	NM_015040.4(PIKFYVE):c.-160A>G	noncoding	Benign
2	208266291	C	T	C208266291T	PIKFYVE	NM_015040.4(PIKFYVE):c.-134C>T	noncoding	Benign
2	208273573	C	T	C208273573T	PIKFYVE	NM_015040.4(PIKFYVE):c.173-11C>T	noncoding	Benign
2	208273644	A	T	A208273644T	PIKFYVE	NM_015040.4(PIKFYVE):c.233A>T:p.Gln78Leu	coding	Benign
2	208273690	A	G	A208273690G	PIKFYVE	NM_015040.4(PIKFYVE):c.279A>G:p.Lys93=	coding	Benign
2	208300927	G	T	G208300927T	PIKFYVE	NM_015040.4(PIKFYVE):c.1051-10G>T	noncoding	Benign
2	208304198	C	T	C208304198T	PIKFYVE	NM_015040.4(PIKFYVE):c.1348C>T:p.Pro450Ser	coding	Benign
2	208314312	G	A	G208314312A	PIKFYVE	NM_015040.4(PIKFYVE):c.1715G>A:p.Arg572Gln	coding	Benign
2	208314367	C	T	C208314367T	PIKFYVE	NM_015040.4(PIKFYVE):c.1770C>T:p.Asn590=	coding	Benign
2	208315215	A	G	A208315215G	PIKFYVE	NM_015040.4(PIKFYVE):c.1849A>G:p.Met617Val	coding	Benign
2	208315320	G	A	G208315320A	PIKFYVE	NM_015040.4(PIKFYVE):c.1954G>A:p.Val652Ile	coding	Benign
2	208315349	C	A	C208315349A	PIKFYVE	NM_015040.4(PIKFYVE):c.1983C>A:p.Ile661=	coding	Benign
2	208317875	T	G	T208317875G	PIKFYVE	NM_015040.4(PIKFYVE):c.2016T>G:p.Gly672=	coding	Benign
2	208320256	G	A	G208320256A	PIKFYVE	NM_015040.4(PIKFYVE):c.2087G>A:p.Ser696Asn	coding	Benign
2	208320275	C	T	C208320275T	PIKFYVE	NM_015040.4(PIKFYVE):c.2106C>T:p.Pro702=	coding	Benign
2	208320333	A	G	A208320333G	PIKFYVE	NM_015040.4(PIKFYVE):c.2164A>G:p.Thr722Ala	coding	Benign
2	208320353	G	A	G208320353A	PIKFYVE	NM_015040.4(PIKFYVE):c.2184G>A:p.Val728=	coding	Benign
2	208324127	A	T	A208324127T	PIKFYVE	NM_015040.4(PIKFYVE):c.2191-15A>T	noncoding	Benign
2	208324136	A	T	A208324136T	PIKFYVE	NM_015040.4(PIKFYVE):c.2191-6A>T	noncoding	Benign
2	208324294	T	A	T208324294A	PIKFYVE	NM_015040.4(PIKFYVE):c.2331+12T>A	noncoding	Benign
2	208325346	T	C	T208325346C	PIKFYVE	NM_015040.4(PIKFYVE):c.2535T>C:p.Ser845=	coding	Benign
2	208325360	C	T	C208325360T	PIKFYVE	NM_015040.4(PIKFYVE):c.2549C>T:p.Ala850Val	coding	Benign
2	208325529	C	T	C208325529T	PIKFYVE	NM_015040.4(PIKFYVE):c.2718C>T:p.Tyr906=	coding	Benign
2	208325606	T	C	T208325606C	PIKFYVE	NM_015040.4(PIKFYVE):c.2795T>C:p.Leu932Ser	coding	Benign
2	208325607	G	A	G208325607A	PIKFYVE	NM_015040.4(PIKFYVE):c.2796G>A:p.Leu932=	coding	Benign
2	208325613	T	A	T208325613A	PIKFYVE	NM_015040.4(PIKFYVE):c.2802T>A:p.Ile934=	coding	Benign
2	208325692	A	G	A208325692G	PIKFYVE	NM_015040.4(PIKFYVE):c.2881A>G:p.Thr961Ala	coding	Benign
2	208325703	G	A	G208325703A	PIKFYVE	NM_015040.4(PIKFYVE):c.2892G>A:p.Pro964=	coding	Benign
2	208325706	G	A	G208325706A	PIKFYVE	NM_015040.4(PIKFYVE):c.2895G>A:p.Ala965=	coding	Benign
2	208325773	C	T	C208325773T	PIKFYVE	NM_015040.4(PIKFYVE):c.2962C>T:p.Gln988Ter	coding	Pathogenic
2	208325795	A	T	A208325795T	PIKFYVE	NM_015040.4(PIKFYVE):c.2984A>T:p.Gln995Leu	coding	Benign
2	208325804	C	G	C208325804G	PIKFYVE	NM_015040.4(PIKFYVE):c.2993C>G:p.Thr998Ser	coding	Benign
2	208325908	T	G	T208325908G	PIKFYVE	NM_015040.4(PIKFYVE):c.3097T>G:p.Ser1033Ala	coding	Benign
2	208325925	A	G	A208325925G	PIKFYVE	NM_015040.4(PIKFYVE):c.3114A>G:p.Arg1038=	coding	Benign
2	208326119	A	G	A208326119G	PIKFYVE	NM_015040.4(PIKFYVE):c.3308A>G:p.Lys1103Arg	coding	Pathogenic
2	208326165	A	G	A208326165G	PIKFYVE	NM_015040.4(PIKFYVE):c.3354A>G:p.Gly1118=	coding	Benign
2	208326270	C	T	C208326270T	PIKFYVE	NM_015040.4(PIKFYVE):c.3459C>T:p.Ala1153=	coding	Benign
2	208326358	C	A	C208326358A	PIKFYVE	NM_015040.4(PIKFYVE):c.3547C>A:p.Gln1183Lys	coding	Benign
2	208326375	T	C	T208326375C	PIKFYVE	NM_015040.4(PIKFYVE):c.3564T>C:p.Asn1188=	coding	Benign
2	208328294	C	A	C208328294A	PIKFYVE	NM_015040.4(PIKFYVE):c.3719+14C>A	noncoding	Benign
2	208335319	C	T	C208335319T	PIKFYVE	NM_015040.4(PIKFYVE):c.4156C>T:p.Arg1386Trp	coding	Benign
2	208335378	A	G	A208335378G	PIKFYVE	NM_015040.4(PIKFYVE):c.4215A>G:p.Leu1405=	coding	Benign
2	208336116	C	G	C208336116G	PIKFYVE	NM_015040.4(PIKFYVE):c.4436C>G:p.Thr1479Ser	coding	Benign
2	208336135	G	A	G208336135A	PIKFYVE	NM_015040.4(PIKFYVE):c.4455G>A:p.Ser1485=	coding	Benign
2	208336902	A	C	A208336902C	PIKFYVE	NM_015040.4(PIKFYVE):c.4585A>C:p.Arg1529=	coding	Benign
2	208338525	A	G	A208338525G	PIKFYVE	NM_015040.4(PIKFYVE):c.4629A>G:p.Ala1543=	coding	Benign
2	208339476	A	G	A208339476G	PIKFYVE	NM_015040.4(PIKFYVE):c.4731A>G:p.Gln1577=	coding	Benign
2	208339519	G	A	G208339519A	PIKFYVE	NM_015040.4(PIKFYVE):c.4774G>A:p.Gly1592Arg	coding	Benign
2	208340002	T	C	T208340002C	PIKFYVE	NM_015040.4(PIKFYVE):c.4811-9T>C	noncoding	Benign
2	208340014	T	G	T208340014G	PIKFYVE	NM_015040.4(PIKFYVE):c.4814T>G:p.Val1605Gly	coding	Benign
2	208342541	A	C	A208342541C	PIKFYVE	NM_015040.4(PIKFYVE):c.4932-13A>C	noncoding	Benign
2	208342611	C	T	C208342611T	PIKFYVE	NM_015040.4(PIKFYVE):c.4989C>T:p.Cys1663=	coding	Benign
2	208345103	G	A	G208345103A	PIKFYVE	NM_015040.4(PIKFYVE):c.5028-8G>A	noncoding	Benign
2	208347971	G	C	G208347971C	PIKFYVE	NM_015040.4(PIKFYVE):c.5322G>C:p.Gln1774His	coding	Benign
2	208347983	G	A	G208347983A	PIKFYVE	NM_015040.4(PIKFYVE):c.5334G>A:p.Thr1778=	coding	Benign
2	208347992	G	A	G208347992A	PIKFYVE	NM_015040.4(PIKFYVE):c.5343G>A:p.Glu1781=	coding	Benign
2	208350046	A	G	A208350046G	PIKFYVE	NM_015040.4(PIKFYVE):c.5397A>G:p.Thr1799=	coding	Benign
2	208350095	A	T	A208350095T	PIKFYVE	NM_015040.4(PIKFYVE):c.5434+12A>T	noncoding	Benign
2	208350847	T	C	T208350847C	PIKFYVE	NM_015040.4(PIKFYVE):c.5511T>C:p.Ile1837=	coding	Benign
2	208350862	A	G	A208350862G	PIKFYVE	NM_015040.4(PIKFYVE):c.5526A>G:p.Glu1842=	coding	Benign
2	208350909	G	A	G208350909A	PIKFYVE	NM_015040.4(PIKFYVE):c.5573G>A:p.Arg1858Gln	coding	Benign
2	208350930	C	T	C208350930T	PIKFYVE	NM_015040.4(PIKFYVE):c.5594C>T:p.Ala1865Val	coding	Benign
2	208352665	G	T	G208352665T	PIKFYVE	NM_015040.4(PIKFYVE):c.5727G>T:p.Ala1909=	coding	Benign
2	208354113	G	A	G208354113A	PIKFYVE	NM_015040.4(PIKFYVE):c.6060G>A:p.Leu2020=	coding	Benign
2	208355383	T	C	T208355383C	PIKFYVE	NM_015040.4(PIKFYVE):c.*78T>C	noncoding	Benign
2	208355433	G	T	G208355433T	PIKFYVE	NM_015040.4(PIKFYVE):c.*128G>T	noncoding	Benign
2	208355514	G	C	G208355514C	PIKFYVE	NM_015040.4(PIKFYVE):c.*209G>C	noncoding	Benign
2	208355515	G	A	G208355515A	PIKFYVE	NM_015040.4(PIKFYVE):c.*210G>A	noncoding	Benign
2	208356403	A	G	A208356403G	PIKFYVE	NM_015040.4(PIKFYVE):c.*1098A>G	noncoding	Benign
2	208356567	T	G	T208356567G	PIKFYVE	NM_015040.4(PIKFYVE):c.*1262T>G	noncoding	Benign
2	208356804	T	G	T208356804G	PIKFYVE	NM_015040.4(PIKFYVE):c.*1499T>G	noncoding	Benign
2	208357228	A	G	A208357228G	PIKFYVE	NM_015040.4(PIKFYVE):c.*1923A>G	noncoding	Benign
2	208357243	G	C	G208357243C	PIKFYVE	NM_015040.4(PIKFYVE):c.*1938G>C	noncoding	Benign
2	208357283	T	C	T208357283C	PIKFYVE	NM_015040.4(PIKFYVE):c.*1978T>C	noncoding	Benign
2	208357448	G	C	G208357448C	PIKFYVE	NM_015040.4(PIKFYVE):c.*2143G>C	noncoding	Benign
2	208357478	C	T	C208357478T	PIKFYVE	NM_015040.4(PIKFYVE):c.*2173C>T	noncoding	Benign
2	208357490	C	G	C208357490G	PIKFYVE	NM_015040.4(PIKFYVE):c.*2185C>G	noncoding	Benign
2	208357552	A	G	A208357552G	PIKFYVE	NM_015040.4(PIKFYVE):c.*2247A>G	noncoding	Benign
2	208357854	G	A	G208357854A	PIKFYVE	NM_015040.4(PIKFYVE):c.*2549G>A	noncoding	Benign
2	208357998	A	G	A208357998G	PIKFYVE	NM_015040.4(PIKFYVE):c.*2693A>G	noncoding	Benign
2	208358043	A	G	A208358043G	PIKFYVE	NM_015040.4(PIKFYVE):c.*2738A>G	noncoding	Benign
2	208358405	T	G	T208358405G	PIKFYVE	NM_015040.4(PIKFYVE):c.*3100T>G	noncoding	Benign
2	208358629	A	G	A208358629G	PIKFYVE	NM_015040.4(PIKFYVE):c.*3324A>G	noncoding	Benign
2	208407049	C	A	C208407049A	PTH2R	NM_005048.4(PTH2R):c.6C>A:p.Ala2=	coding	Benign
2	208459943	G	A	G208459943A	PTH2R	NM_005048.4(PTH2R):c.963G>A:p.Pro321=	coding	Benign
2	208489005	C	T	C208489005T	PTH2R	NM_005048.4(PTH2R):c.1077-7C>T	noncoding	Benign
2	209653333	G	A	G209653333A	MAP2	NM_001039538.2(MAP2):c.163G>A:p.Glu55Lys	coding	Benign
2	209692696	G	A	G209692696A	MAP2	NM_001039538.2(MAP2):c.455-7581G>A	coding	Benign
2	209692706	A	G	A209692706G	MAP2	NM_001039538.2(MAP2):c.455-7571A>G	coding	Benign
2	209693389	G	T	G209693389T	MAP2	NM_001039538.2(MAP2):c.455-6888G>T	coding	Benign
2	209693410	G	T	G209693410T	MAP2	NM_001039538.2(MAP2):c.455-6867G>T	coding	Benign
2	209694207	T	C	T209694207C	MAP2	NM_001039538.2(MAP2):c.455-6070T>C	coding	Benign
2	209694450	T	C	T209694450C	MAP2	NM_001039538.2(MAP2):c.455-5827T>C	coding	Benign
2	209694515	C	T	C209694515T	MAP2	NM_001039538.2(MAP2):c.455-5762C>T	coding	Benign
2	209694693	G	A	G209694693A	MAP2	NM_001039538.2(MAP2):c.455-5584G>A	coding	Benign
2	209695097	A	T	A209695097T	MAP2	NM_001039538.2(MAP2):c.455-5180A>T	coding	Benign
2	209695557	G	A	G209695557A	MAP2	NM_001039538.2(MAP2):c.455-4720G>A	coding	Benign
2	209705582	C	T	C209705582T	MAP2	NM_001039538.2(MAP2):c.690C>T:p.Asp230=	coding	Benign
2	209710248	G	T	G209710248T	MAP2	NM_001039538.2(MAP2):c.1170G>T:p.Gly390=	coding	Benign
2	209730193	A	G	A209730193G	MAP2	NM_001039538.2(MAP2):c.1476A>G:p.Gln492=	coding	Benign
2	209772171	G	A	G209772171A	UNC80	NM_001371986.1(UNC80):c.92+7G>A	noncoding	Benign/Likely_benign
2	209775898	C	T	C209775898T	UNC80	NM_032504.1(UNC80):c.151C>T:p.Arg51Ter	coding	Pathogenic
2	209775927	C	T	C209775927T	UNC80	NM_001371986.1(UNC80):c.180C>T:p.Gly60=	coding	Benign
2	209777350	C	T	C209777350T	UNC80	NM_001371986.1(UNC80):c.391C>T:p.Arg131Trp	coding	Benign
2	209777363	C	T	C209777363T	UNC80	NM_032504.1(UNC80):c.404C>T:p.Thr135Ile	coding	Benign/Likely_benign
2	209777479	C	T	C209777479T	UNC80	NM_032504.1(UNC80):c.520C>T:p.Arg174Ter	coding	Pathogenic
2	209777564	G	A	G209777564A	UNC80	NM_032504.1(UNC80):c.600+5G>A	noncoding	Benign
2	209786065	G	A	G209786065A	UNC80	NM_032504.1(UNC80):c.601-1G>A	noncoding	Pathogenic
2	209786137	C	T	C209786137T	UNC80	NM_032504.1(UNC80):c.672C>T:p.Pro224=	coding	Benign
2	209789572	T	C	T209789572C	UNC80	NM_001371986.1(UNC80):c.765T>C:p.Cys255=	coding	Benign/Likely_benign
2	209813655	A	G	A209813655G	UNC80	NM_001371986.1(UNC80):c.1014A>G:p.Leu338=	coding	Benign
2	209817844	G	T	G209817844T	UNC80	NM_001371986.1(UNC80):c.1585G>T:p.Ala529Ser	coding	Benign
2	209817879	C	G	C209817879G	UNC80	NM_001371986.1(UNC80):c.1620C>G:p.Ser540=	coding	Benign
2	209817901	A	G	A209817901G	UNC80	NM_001371986.1(UNC80):c.1642A>G:p.Ser548Gly	coding	Benign
2	209817918	C	G	C209817918G	UNC80	NM_001371986.1(UNC80):c.1659C>G:p.Pro553=	coding	Benign
2	209819006	C	T	C209819006T	UNC80	NM_001371986.1(UNC80):c.1707C>T:p.Ile569=	coding	Benign
2	209819024	G	A	G209819024A	UNC80	NM_001371986.1(UNC80):c.1725G>A:p.Ala575=	coding	Benign
2	209819117	G	A	G209819117A	UNC80	NM_001371986.1(UNC80):c.1818G>A:p.Pro606=	coding	Benign
2	209820354	G	C	G209820354C	UNC80	NM_001371986.1(UNC80):c.2006G>C:p.Ser669Thr	coding	Benign
2	209820568	T	A	T209820568A	UNC80	NM_001371986.1(UNC80):c.2220T>A:p.Gly740=	coding	Benign
2	209825969	G	A	G209825969A	UNC80	NM_001371986.1(UNC80):c.2394G>A:p.Lys798=	coding	Benign
2	209829280	C	T	C209829280T	UNC80	NM_032504.1(UNC80):c.2527C>T:p.Arg843Ter	coding	Pathogenic
2	209834969	T	C	T209834969C	UNC80	NM_001371986.1(UNC80):c.3000T>C:p.Cys1000=	coding	Benign
2	209839258	A	G	A209839258G	UNC80	NM_001371986.1(UNC80):c.3078A>G:p.Lys1026=	coding	Benign
2	209839382	T	G	T209839382G	UNC80	NM_001371986.1(UNC80):c.3202T>G:p.Ser1068Ala	coding	Benign
2	209839439	A	G	A209839439G	UNC80	NM_032504.1(UNC80):c.3256+3A>G	noncoding	Benign/Likely_benign
2	209840555	G	A	G209840555A	UNC80	NM_001371986.1(UNC80):c.3264G>A:p.Lys1088=	coding	Benign
2	209842349	G	C	G209842349C	UNC80	NM_001371986.1(UNC80):c.3358-1G>C	noncoding	Pathogenic
2	209877966	C	T	C209877966T	UNC80	NM_001371986.1(UNC80):c.3853C>T:p.Arg1285Ter	coding	Pathogenic
2	209878039	C	T	C209878039T	UNC80	NM_001371986.1(UNC80):c.3926C>T:p.Thr1309Ile	coding	Benign
2	209888100	G	A	G209888100A	UNC80	NM_001371986.1(UNC80):c.4116G>A:p.Leu1372=	coding	Benign
2	209888128	G	T	G209888128T	UNC80	NM_032504.1(UNC80):c.4150G>T:p.Glu1384Ter	coding	Pathogenic
2	209896308	T	C	T209896308C	UNC80	NM_001371986.1(UNC80):c.4481-5T>C	noncoding	Benign
2	209912674	T	G	T209912674G	UNC80	NM_001371986.1(UNC80):c.4890+7T>G	noncoding	Benign
2	209918627	C	T	C209918627T	UNC80	NM_001371986.1(UNC80):c.5307C>T:p.Ser1769=	coding	Benign
2	209929933	C	T	C209929933T	UNC80	NM_032504.1(UNC80):c.5671C>T:p.Arg1891Ter	coding	Pathogenic
2	209933917	C	T	C209933917T	UNC80	NM_001371986.1(UNC80):c.6090C>T:p.Tyr2030=	coding	Benign
2	209933975	G	C	G209933975C	UNC80	NM_001371986.1(UNC80):c.6148G>C:p.Val2050Leu	coding	Benign
2	209933992	C	T	C209933992T	UNC80	NM_001371986.1(UNC80):c.6165C>T:p.Thr2055=	coding	Benign
2	209936927	C	T	C209936927T	UNC80	NM_001371986.1(UNC80):c.6357C>T:p.Tyr2119=	coding	Benign
2	209941467	G	A	G209941467A	UNC80	NM_032504.1(UNC80):c.6695G>A:p.Trp2232Ter	coding	Pathogenic
2	209957656	C	T	C209957656T	UNC80	NM_001371986.1(UNC80):c.7470C>T:p.Ala2490=	coding	Benign
2	209972219	C	A	C209972219A	UNC80	NM_001371986.1(UNC80):c.8275C>A:p.Pro2759Thr	coding	Benign
2	209972258	C	T	C209972258T	UNC80	NM_032504.1(UNC80):c.8116C>T:p.Arg2706Ter	coding	Pathogenic
2	209976120	G	A	G209976120A	UNC80	NM_001371986.1(UNC80):c.8589G>A:p.Ala2863=	coding	Benign
2	209978558	G	A	G209978558A	UNC80	NM_001371986.1(UNC80):c.8968G>A:p.Val2990Met	coding	Benign
2	209978668	G	A	G209978668A	UNC80	NM_001371986.1(UNC80):c.9078G>A:p.Ser3026=	coding	Benign
2	209982201	C	T	C209982201T	UNC80	NM_001371986.1(UNC80):c.9141C>T:p.Ser3047=	coding	Benign
2	209993367	G	A	G209993367A	UNC80	NM_001371986.1(UNC80):c.9449G>A:p.Arg3150His	coding	Benign
2	209993421	C	T	C209993421T	UNC80	NM_032504.1(UNC80):c.9305C>T:p.Pro3102Leu	coding	Benign/Likely_benign
2	209994170	C	G	C209994170G	UNC80	NM_001371986.1(UNC80):c.9614C>G:p.Ala3205Gly	coding	Benign
2	209995372	C	G	C209995372G	UNC80	NM_032504.1(UNC80):c.9554C>G:p.Thr3185Arg	coding	Benign/Likely_benign
2	209995427	T	C	T209995427C	UNC80	NM_001371986.1(UNC80):c.9807T>C:p.Pro3269=	coding	Benign
2	209995553	G	A	G209995553A	UNC80	NM_001371986.1(UNC80):c.9933G>A:p.Glu3311=	coding	Benign
2	209995565	G	A	G209995565A	UNC80	NM_001371986.1(UNC80):c.9945G>A:p.Thr3315=	coding	Benign
2	210023010	T	C	T210023010C	KANSL1L	NM_152519.4(KANSL1L):c.2903A>G:p.Asp968Gly	coding	Benign
2	210104242	T	C	T210104242C	KANSL1L	NM_152519.4(KANSL1L):c.1290A>G:p.Gln430=	coding	Benign
2	210195326	T	G	T210195326G	ACADL	NM_001608.4(ACADL):c.997A>C:p.Lys333Gln	coding	Benign
2	210203383	C	A	C210203383A	ACADL	NM_001608.4(ACADL):c.932G>T:p.Arg311Met	coding	Benign
2	210205746	G	A	G210205746A	ACADL	NM_001608.4(ACADL):c.654C>T:p.Val218=	coding	Benign
2	210293802	T	C	T210293802C	MYL1	NM_079420.3(MYL1):c.479-2A>G	noncoding	Pathogenic
2	210441437	A	C	A210441437C	LANCL1	NM_006055.3(LANCL1):c.414T>G:p.Ile138Met	coding	Benign
2	210472037	G	T	G210472037T	LANCL1	NM_006055.3(LANCL1):c.121C>A:p.Arg41=	coding	Benign
2	210477414	T	G	T210477414G	CPS1	NC_000002.12:g.210477414T>G	noncoding	Benign
2	210477748	G	A	G210477748A	CPS1	NM_001122633.3(CPS1):c.-34G>A	noncoding	Benign
2	210477778	G	A	G210477778A	CPS1	NM_001122633.3(CPS1):c.-16+12G>A	noncoding	Benign
2	210556705	T	G	T210556705G	CPS1	NM_001875.5(CPS1):c.-29T>G	coding	Benign
2	210573301	C	T	C210573301T	CPS1	NM_001875.5(CPS1):c.130C>T:p.Gln44Ter	coding	Pathogenic
2	210573672	G	A	G210573672A	CPS1	NM_001875.5(CPS1):c.236+265G>A	noncoding	Benign
2	210579728	T	C	T210579728C	CPS1	NM_001875.5(CPS1):c.486T>C:p.Tyr162=	coding	Benign/Likely_benign
2	210579729	G	T	G210579729T	CPS1	NM_001875.5(CPS1):c.487G>T:p.Gly163Ter	coding	Pathogenic
2	210582613	A	T	A210582613T	CPS1	NM_001875.5(CPS1):c.529-4A>T	noncoding	Benign/Likely_benign
2	210590618	T	C	T210590618C	CPS1	NM_001875.5(CPS1):c.841-182T>C	noncoding	Benign
2	210591886	C	T	C210591886T	CPS1	NM_001875.5(CPS1):c.1003C>T:p.Gln335Ter	coding	Pathogenic
2	210591893	A	G	A210591893G	CPS1	NM_001875.5(CPS1):c.1010A>G:p.His337Arg	coding	Pathogenic
2	210591913	A	G	A210591913G	CPS1	NM_001875.5(CPS1):c.1030A>G:p.Thr344Ala	coding	Benign
2	210591913	A	T	A210591913T	CPS1	NM_001875.5(CPS1):c.1030A>T:p.Thr344Ser	coding	Benign
2	210591915	C	T	C210591915T	CPS1	NM_001875.5(CPS1):c.1032C>T:p.Thr344=	coding	Benign
2	210591951	C	G	C210591951G	CPS1	NM_001875.5(CPS1):c.1068C>G:p.Val356=	coding	Benign
2	210594503	T	C	T210594503C	CPS1	NM_001875.5(CPS1):c.1165-5T>C	noncoding	Benign/Likely_benign
2	210594543	A	G	A210594543G	CPS1	NM_001875.5(CPS1):c.1200A>G:p.Lys400=	coding	Benign/Likely_benign
2	210594557	C	A	C210594557A	CPS1	NM_001875.5(CPS1):c.1214C>A:p.Thr405Asn	coding	Benign/Likely_benign
2	210595552	C	G	C210595552G	CPS1	NM_001875.5(CPS1):c.1329C>G:p.Tyr443Ter	coding	Pathogenic
2	210595589	G	A	G210595589A	CPS1	NM_001875.5(CPS1):c.1359+7G>A	noncoding	Benign
2	210599428	T	C	T210599428C	CPS1	NM_001875.5(CPS1):c.1416T>C:p.Asn472=	coding	Benign/Likely_benign
2	210599449	G	A	G210599449A	CPS1	NM_001875.5(CPS1):c.1437G>A:p.Ala479=	coding	Benign/Likely_benign
2	210600636	C	T	C210600636T	CPS1	NM_001875.5(CPS1):c.1631C>T:p.Thr544Met	coding	Pathogenic
2	210602197	G	A	G210602197A	CPS1	NM_001875.5(CPS1):c.1708-5G>A	noncoding	Benign
2	210605177	C	T	C210605177T	CPS1	NM_001875.5(CPS1):c.1912C>T:p.Arg638Ter	coding	Pathogenic
2	210605178	G	C	G210605178C	CPS1	NM_001875.5(CPS1):c.1913G>C:p.Arg638Pro	coding	Pathogenic
2	210605362	T	C	T210605362C	CPS1	NM_001875.5(CPS1):c.1981+116T>C	noncoding	Benign
2	210606910	C	T	C210606910T	CPS1	NM_001875.5(CPS1):c.2161C>T:p.Arg721Ter	coding	Pathogenic/Likely_pathogenic
2	210608346	G	T	G210608346T	CPS1	NM_001875.5(CPS1):c.2193-15G>T	noncoding	Benign
2	210608433	C	A	C210608433A	CPS1	NM_001875.5(CPS1):c.2265C>A:p.Ser755=	coding	Benign
2	210608433	C	T	C210608433T	CPS1	NM_001875.5(CPS1):c.2265C>T:p.Ser755=	coding	Benign/Likely_benign
2	210608520	A	G	A210608520G	CPS1	NM_001875.5(CPS1):c.2352A>G:p.Thr784=	coding	Benign/Likely_benign
2	210608527	C	T	C210608527T	CPS1	NM_001875.5(CPS1):c.2359C>T:p.Arg787Ter	coding	Pathogenic
2	210608577	T	G	T210608577G	CPS1	NM_001875.5(CPS1):c.2391+18T>G	noncoding	Benign
2	210612119	C	A	C210612119A	CPS1	NM_001875.5(CPS1):c.2394C>A:p.Val798=	coding	Benign
2	210612132	C	A	C210612132A	CPS1	NM_001875.5(CPS1):c.2407C>A:p.Arg803Ser	coding	Pathogenic
2	210612132	C	G	C210612132G	CPS1	NM_001875.5(CPS1):c.2407C>G:p.Arg803Gly	coding	Pathogenic
2	210612146	G	A	G210612146A	CPS1	NM_001875.5(CPS1):c.2421G>A:p.Glu807=	coding	Benign/Likely_benign
2	210612173	C	T	C210612173T	CPS1	NM_001875.5(CPS1):c.2448C>T:p.Cys816=	coding	Benign
2	210612273	C	G	C210612273G	CPS1	NM_001875.5(CPS1):c.2548C>G:p.Arg850Gly	coding	Pathogenic
2	210612274	G	A	G210612274A	CPS1	NM_001875.5(CPS1):c.2549G>A:p.Arg850His	coding	Pathogenic
2	210616450	G	T	G210616450T	CPS1	NM_001875.5(CPS1):c.2596G>T:p.Glu866Ter	coding	Pathogenic
2	210616477	A	G	A210616477G	CPS1	NM_001875.5(CPS1):c.2623A>G:p.Lys875Glu	coding	Benign
2	210616533	C	G	C210616533G	CPS1	NM_001875.5(CPS1):c.2679C>G:p.Gly893=	coding	Benign
2	210639132	A	G	A210639132G	CPS1	NM_001875.5(CPS1):c.2830-18A>G	noncoding	Benign
2	210640045	G	A	G210640045A	CPS1	NM_001875.5(CPS1):c.2945G>A:p.Gly982Asp	coding	Pathogenic
2	210642553	C	T	C210642553T	CPS1	NM_001875.5(CPS1):c.3029C>T:p.Thr1010Met	coding	Benign
2	210642557	G	C	G210642557C	CPS1	NM_001875.5(CPS1):c.3033G>C:p.Val1011=	coding	Benign/Likely_benign
2	210648491	G	A	G210648491A	CPS1	NM_001875.5(CPS1):c.3355G>A:p.Ala1119Thr	coding	Benign/Likely_benign
2	210650334	A	T	A210650334T	CPS1	NM_001875.5(CPS1):c.3405-29A>T	noncoding	Benign
2	210654018	G	A	G210654018A	CPS1	NM_001875.5(CPS1):c.3481-7G>A	noncoding	Benign
2	210654081	C	T	C210654081T	CPS1	NM_001875.5(CPS1):c.3537C>T:p.Asp1179=	coding	Benign/Likely_benign
2	210654103	G	C	G210654103C	CPS1	NM_001875.5(CPS1):c.3558+1G>C	coding	Pathogenic
2	210658439	A	G	A210658439G	CPS1	NM_001875.5(CPS1):c.3667-160A>G	noncoding	Benign
2	210658619	G	T	G210658619T	CPS1	NM_001875.5(CPS1):c.3687G>T:p.Lys1229Asn	coding	Benign/Likely_benign
2	210658733	C	T	C210658733T	CPS1	NM_001875.5(CPS1):c.3756+45C>T	noncoding	Benign
2	210660512	C	T	C210660512T	CPS1	NM_001875.5(CPS1):c.3784C>T:p.Arg1262Ter	coding	Pathogenic
2	210660643	T	A	T210660643A	CPS1	NM_001875.5(CPS1):c.3915T>A:p.Tyr1305Ter	coding	Pathogenic
2	210663175	G	A	G210663175A	CPS1	NM_001875.5(CPS1):c.3980G>A:p.Cys1327Tyr	coding	Pathogenic
2	210663277	T	C	T210663277C	CPS1	NM_001875.5(CPS1):c.4002+80T>C	noncoding	Benign
2	210668258	C	T	C210668258T	CPS1	NM_001875.5(CPS1):c.4075C>T:p.Gln1359Ter	coding	Pathogenic
2	210674426	G	A	G210674426A	CPS1	NM_001875.5(CPS1):c.4102-476G>A	noncoding	Benign
2	210674547	T	C	T210674547C	CPS1	NM_001875.5(CPS1):c.4102-355T>C	noncoding	Benign
2	210674578	C	T	C210674578T	CPS1	NM_001875.5(CPS1):c.4102-324C>T	noncoding	Benign
2	210675783	C	A	C210675783A	CPS1	NM_001875.5(CPS1):c.4217C>A:p.Thr1406Asn	coding	Benign
2	210675826	C	G	C210675826G	CPS1	NM_001875.5(CPS1):c.4260C>G:p.Leu1420=	coding	Benign
2	210676139	T	G	T210676139G	CPS1	NM_001875.5(CPS1):c.4274+299T>G	noncoding	Benign
2	210676997	A	G	A210676997G	CPS1	NM_001875.5(CPS1):c.4275-10A>G	noncoding	Benign
2	210677089	C	T	C210677089T	CPS1	NM_001875.5(CPS1):c.4357C>T:p.Arg1453Trp	coding	Pathogenic
2	210677140	T	A	T210677140A	CPS1	NM_001875.5(CPS1):c.4404+4T>A	noncoding	Benign
2	210678299	T	A	T210678299A	CPS1	NM_001875.5(CPS1):c.*314T>A	noncoding	Benign
2	210678331	T	C	T210678331C	CPS1	NM_001875.5(CPS1):c.*346T>C	noncoding	Benign
2	210678365	C	G	C210678365G	CPS1	NM_001875.5(CPS1):c.*380C>G	noncoding	Benign
2	210678423	T	G	T210678423G	CPS1	NM_001875.5(CPS1):c.*438T>G	noncoding	Benign
2	210678643	A	G	A210678643G	CPS1	NM_001875.5(CPS1):c.*658A>G	noncoding	Benign
2	210678739	T	G	T210678739G	CPS1	NM_001875.5(CPS1):c.*754T>G	noncoding	Benign
2	210678814	T	C	T210678814C	CPS1	NM_001875.5(CPS1):c.*829T>C	noncoding	Benign
2	211383719	G	A	G211383719A	ERBB4	NM_005235.3(ERBB4):c.3823C>T:p.Arg1275Trp	coding	Pathogenic
2	211383948	G	A	G211383948A	ERBB4	NM_005235.3(ERBB4):c.3594C>T:p.Ala1198=	coding	Benign
2	211424241	C	T	C211424241T	ERBB4	NM_005235.3(ERBB4):c.2780G>A:p.Arg927Gln	coding	Pathogenic
2	211424276	G	A	G211424276A	ERBB4	NM_005235.3(ERBB4):c.2745C>T:p.Thr915=	coding	Benign
2	211623922	T	C	T211623922C	ERBB4	NM_005235.3(ERBB4):c.2202A>G:p.Lys734=	coding	Benign
2	211623952	A	G	A211623952G	ERBB4	NM_005235.3(ERBB4):c.2172T>C:p.Leu724=	coding	Benign
2	211624053	C	T	C211624053T	ERBB4	NM_005235.3(ERBB4):c.2080-9G>A	noncoding	Benign
2	211673262	G	A	G211673262A	ERBB4	NM_005235.3(ERBB4):c.1623-5C>T	noncoding	Benign
2	211704198	C	T	C211704198T	ERBB4	NM_005235.3(ERBB4):c.1199-4G>A	noncoding	Benign
2	211705339	G	T	G211705339T	ERBB4	NM_005235.3(ERBB4):c.1177C>A:p.Arg393=	coding	Benign
2	211947543	C	T	C211947543T	ERBB4	NM_005235.3(ERBB4):c.308G>A:p.Arg103His	coding	Benign
2	212538468	C	T	C212538468T	ERBB4	NM_005235.3(ERBB4):c.63G>A:p.Gln21=	coding	Benign
2	213056961	T	C	T213056961C	IKZF2	NM_016260.3(IKZF2):c.278A>G:p.Asn93Ser	coding	Benign
2	213489990	C	A	C213489990A	SPAG16	NM_024532.5(SPAG16):c.970C>A:p.Pro324Thr	coding	Benign
2	213862481	G	T	G213862481T	SPAG16	NM_024532.5(SPAG16):c.1071-4G>T	noncoding	Benign
2	214728557	C	T	C214728557T	BARD1	NM_000465.4(BARD1):c.*119G>A	noncoding	Benign
2	214728743	C	T	C214728743T	BARD1	NM_000465.4(BARD1):c.2267G>A:p.Trp756Ter	coding	Pathogenic/Likely_pathogenic
2	214728798	T	C	T214728798C	BARD1	NM_000465.4(BARD1):c.2212A>G:p.Ile738Val	coding	Benign/Likely_benign
2	214728867	G	A	G214728867A	BARD1	NM_000465.4(BARD1):c.2143C>T:p.Gln715Ter	coding	Pathogenic
2	214728960	T	A	T214728960A	BARD1	NM_000465.4(BARD1):c.2050A>T:p.Lys684Ter	coding	Pathogenic/Likely_pathogenic
2	214729019	G	A	G214729019A	BARD1	NM_000465.4(BARD1):c.2002-11C>T	noncoding	Benign/Likely_benign
2	214730416	G	A	G214730416A	BARD1	NM_000465.4(BARD1):c.1996C>T:p.Gln666Ter	coding	Pathogenic/Likely_pathogenic
2	214730479	A	G	A214730479G	BARD1	NM_000465.4(BARD1):c.1933T>C:p.Cys645Arg	coding	Benign/Likely_benign
2	214730491	G	A	G214730491A	BARD1	NM_000465.4(BARD1):c.1921C>T:p.Arg641Ter	coding	Pathogenic
2	214730507	C	T	C214730507T	BARD1	NM_000465.4(BARD1):c.1905G>A:p.Trp635Ter	coding	Pathogenic
2	214730508	C	T	C214730508T	BARD1	NM_000465.4(BARD1):c.1904G>A:p.Trp635Ter	coding	Pathogenic
2	214745083	C	T	C214745083T	BARD1	NM_000465.4(BARD1):c.1887G>A:p.Trp629Ter	coding	Pathogenic
2	214745084	C	T	C214745084T	BARD1	NM_000465.4(BARD1):c.1886G>A:p.Trp629Ter	coding	Pathogenic
2	214745127	G	A	G214745127A	BARD1	NM_000465.4(BARD1):c.1843C>T:p.Gln615Ter	coding	Pathogenic
2	214745160	C	T	C214745160T	BARD1	NM_000465.4(BARD1):c.1811-1G>A	coding	Pathogenic
2	214745161	T	C	T214745161C	BARD1	NM_000465.4(BARD1):c.1811-2A>G	noncoding	Pathogenic
2	214745401	A	G	A214745401G	BARD1	NM_000465.4(BARD1):c.1811-242T>C	noncoding	Benign
2	214745744	T	C	T214745744C	BARD1	NM_000465.4(BARD1):c.1788A>G:p.Lys596=	coding	Benign/Likely_benign
2	214745788	G	A	G214745788A	BARD1	NM_000465.4(BARD1):c.1744C>T:p.Gln582Ter	coding	Pathogenic
2	214745794	C	T	C214745794T	BARD1	NM_000465.4(BARD1):c.1738G>A:p.Glu580Lys	coding	Benign/Likely_benign
2	214745872	G	C	G214745872C	BARD1	NM_000465.4(BARD1):c.1678-18C>G	noncoding	Benign/Likely_benign
2	214745874	T	C	T214745874C	BARD1	NM_000465.4(BARD1):c.1678-20A>G	noncoding	Benign/Likely_benign
2	214752454	C	G	C214752454G	BARD1	NM_000465.4(BARD1):c.1670G>C:p.Cys557Ser	coding	Benign
2	214752472	G	C	G214752472C	BARD1	NM_000465.4(BARD1):c.1652C>G:p.Ser551Ter	coding	Pathogenic/Likely_pathogenic
2	214752485	C	A	C214752485A	BARD1	NM_000465.4(BARD1):c.1639G>T:p.Glu547Ter	coding	Pathogenic
2	214752502	G	T	G214752502T	BARD1	NM_000465.4(BARD1):c.1622C>A:p.Ser541Ter	coding	Pathogenic
2	214767468	G	A	G214767468A	BARD1	NM_000465.4(BARD1):c.1568+14C>T	noncoding	Benign
2	214767531	C	T	C214767531T	BARD1	NM_000465.4(BARD1):c.1519G>A:p.Val507Met	coding	Benign/Likely_benign
2	214767532	A	G	A214767532G	BARD1	NM_000465.4(BARD1):c.1518T>C:p.His506=	coding	Benign
2	214767535	C	A	C214767535A	BARD1	NM_000465.4(BARD1):c.1515G>T:p.Gly505=	coding	Benign/Likely_benign
2	214767559	T	C	T214767559C	BARD1	NM_000465.4(BARD1):c.1491A>G:p.Pro497=	coding	Benign/Likely_benign
2	214767563	G	C	G214767563C	BARD1	NM_000465.4(BARD1):c.1487C>G:p.Ser496Ter	coding	Pathogenic
2	214767643	G	T	G214767643T	BARD1	NM_000465.4(BARD1):c.1407C>A:p.Cys469Ter	coding	Pathogenic
2	214769233	A	T	A214769233T	BARD1	NM_000465.4(BARD1):c.1394T>A:p.Leu465Ter	coding	Pathogenic
2	214769242	C	T	C214769242T	BARD1	NM_000465.4(BARD1):c.1385G>A:p.Trp462Ter	coding	Pathogenic
2	214769282	G	A	G214769282A	BARD1	NM_000465.4(BARD1):c.1345C>T:p.Gln449Ter	coding	Pathogenic/Likely_pathogenic
2	214769289	G	C	G214769289C	BARD1	NM_000465.4(BARD1):c.1338C>G:p.Tyr446Ter	coding	Pathogenic
2	214769289	G	T	G214769289T	BARD1	NM_000465.4(BARD1):c.1338C>A:p.Tyr446Ter	coding	Pathogenic
2	214769313	C	T	C214769313T	BARD1	NM_000465.4(BARD1):c.1315-1G>A	coding	Pathogenic
2	214769314	T	C	T214769314C	BARD1	NM_000465.4(BARD1):c.1315-2A>G	noncoding	Pathogenic
2	214769331	C	T	C214769331T	BARD1	NM_000465.4(BARD1):c.1315-19G>A	noncoding	Benign
2	214780592	C	A	C214780592A	BARD1	NM_000465.4(BARD1):c.1282G>T:p.Gly428Ter	coding	Pathogenic
2	214780658	G	A	G214780658A	BARD1	NM_000465.4(BARD1):c.1216C>T:p.Arg406Ter	coding	Pathogenic/Likely_pathogenic
2	214780662	G	C	G214780662C	BARD1	NM_000465.4(BARD1):c.1212C>G:p.Tyr404Ter	coding	Pathogenic
2	214780669	G	C	G214780669C	BARD1	NM_000465.4(BARD1):c.1205C>G:p.Ser402Ter	coding	Pathogenic
2	214780669	G	T	G214780669T	BARD1	NM_000465.4(BARD1):c.1205C>A:p.Ser402Ter	coding	Pathogenic/Likely_pathogenic
2	214780671	A	G	A214780671G	BARD1	NM_000465.4(BARD1):c.1203T>C:p.Ser401=	coding	Benign/Likely_benign
2	214780678	A	C	A214780678C	BARD1	NM_000465.4(BARD1):c.1196T>G:p.Leu399Ter	coding	Pathogenic/Likely_pathogenic
2	214780702	G	C	G214780702C	BARD1	NM_000465.4(BARD1):c.1172C>G:p.Ser391Ter	coding	Pathogenic
2	214780702	G	T	G214780702T	BARD1	NM_000465.4(BARD1):c.1172C>A:p.Ser391Ter	coding	Pathogenic
2	214780718	C	A	C214780718A	BARD1	NM_000465.4(BARD1):c.1156G>T:p.Glu386Ter	coding	Pathogenic
2	214780740	C	G	C214780740G	BARD1	NM_000465.4(BARD1):c.1134G>C:p.Arg378Ser	coding	Benign
2	214780763	T	A	T214780763A	BARD1	NM_000465.4(BARD1):c.1111A>T:p.Lys371Ter	coding	Pathogenic
2	214780813	G	C	G214780813C	BARD1	NM_000465.4(BARD1):c.1061C>G:p.Ser354Ter	coding	Pathogenic
2	214780815	G	C	G214780815C	BARD1	NM_000465.4(BARD1):c.1059C>G:p.Pro353=	coding	Benign/Likely_benign
2	214780821	C	G	C214780821G	BARD1	NM_000465.4(BARD1):c.1053G>C:p.Thr351=	coding	Benign
2	214780821	C	T	C214780821T	BARD1	NM_000465.4(BARD1):c.1053G>A:p.Thr351=	coding	Benign/Likely_benign
2	214780871	T	A	T214780871A	BARD1	NM_000465.4(BARD1):c.1003A>T:p.Arg335Ter	coding	Pathogenic
2	214780927	A	C	A214780927C	BARD1	NM_000465.4(BARD1):c.947T>G:p.Leu316Ter	coding	Pathogenic
2	214780940	T	A	T214780940A	BARD1	NM_000465.4(BARD1):c.934A>T:p.Lys312Ter	coding	Pathogenic
2	214780970	T	A	T214780970A	BARD1	NM_000465.4(BARD1):c.904A>T:p.Lys302Ter	coding	Pathogenic
2	214781050	A	T	A214781050T	BARD1	NM_000465.4(BARD1):c.824T>A:p.Leu275Ter	coding	Pathogenic
2	214781066	C	A	C214781066A	BARD1	NM_000465.4(BARD1):c.808G>T:p.Glu270Ter	coding	Pathogenic
2	214781095	A	C	A214781095C	BARD1	NM_000465.4(BARD1):c.779T>G:p.Leu260Ter	coding	Pathogenic
2	214781136	T	C	T214781136C	BARD1	NM_000465.4(BARD1):c.738A>G:p.Pro246=	coding	Benign/Likely_benign
2	214781141	G	A	G214781141A	BARD1	NM_000465.4(BARD1):c.733C>T:p.Gln245Ter	coding	Pathogenic
2	214781165	G	A	G214781165A	BARD1	NM_000465.4(BARD1):c.709C>T:p.Gln237Ter	coding	Pathogenic
2	214781174	C	A	C214781174A	BARD1	NM_000465.4(BARD1):c.700G>T:p.Glu234Ter	coding	Pathogenic
2	214781201	C	A	C214781201A	BARD1	NM_000465.4(BARD1):c.673G>T:p.Glu225Ter	coding	Pathogenic
2	214781220	C	T	C214781220T	BARD1	NM_000465.4(BARD1):c.654G>A:p.Trp218Ter	coding	Pathogenic
2	214781221	C	T	C214781221T	BARD1	NM_000465.4(BARD1):c.653G>A:p.Trp218Ter	coding	Pathogenic
2	214781242	A	C	A214781242C	BARD1	NM_000465.4(BARD1):c.632T>G:p.Leu211Ter	coding	Pathogenic
2	214781242	A	T	A214781242T	BARD1	NM_000465.4(BARD1):c.632T>A:p.Leu211Ter	coding	Pathogenic/Likely_pathogenic
2	214781254	T	C	T214781254C	BARD1	NM_000465.4(BARD1):c.620A>G:p.Lys207Arg	coding	Benign/Likely_benign
2	214781258	G	A	G214781258A	BARD1	NM_000465.4(BARD1):c.616C>T:p.Gln206Ter	coding	Pathogenic
2	214781265	T	G	T214781265G	BARD1	NM_000465.4(BARD1):c.609A>C:p.Gly203=	coding	Benign/Likely_benign
2	214781267	C	A	C214781267A	BARD1	NM_000465.4(BARD1):c.607G>T:p.Gly203Ter	coding	Pathogenic
2	214781348	G	A	G214781348A	BARD1	NM_000465.4(BARD1):c.526C>T:p.Gln176Ter	coding	Pathogenic
2	214781378	G	A	G214781378A	BARD1	NM_000465.4(BARD1):c.496C>T:p.Gln166Ter	coding	Pathogenic
2	214781384	G	A	G214781384A	BARD1	NM_000465.4(BARD1):c.490C>T:p.Gln164Ter	coding	Pathogenic
2	214781411	T	A	T214781411A	BARD1	NM_000465.4(BARD1):c.463A>T:p.Arg155Ter	coding	Pathogenic
2	214781426	G	A	G214781426A	BARD1	NM_000465.4(BARD1):c.448C>T:p.Arg150Ter	coding	Pathogenic
2	214781436	C	T	C214781436T	BARD1	NM_000465.4(BARD1):c.438G>A:p.Trp146Ter	coding	Pathogenic
2	214781501	C	A	C214781501A	BARD1	NM_000465.4(BARD1):c.373G>T:p.Glu125Ter	coding	Pathogenic
2	214792280	A	G	A214792280G	BARD1	NM_000465.4(BARD1):c.364+17T>C	noncoding	Benign/Likely_benign
2	214792313	A	G	A214792313G	BARD1	NM_000465.4(BARD1):c.348T>C:p.His116=	coding	Benign/Likely_benign
2	214792327	G	A	G214792327A	BARD1	NM_000465.4(BARD1):c.334C>T:p.Arg112Ter	coding	Pathogenic
2	214792333	T	A	T214792333A	BARD1	NM_000465.4(BARD1):c.328A>T:p.Lys110Ter	coding	Pathogenic
2	214792363	G	A	G214792363A	BARD1	NM_000465.4(BARD1):c.298C>T:p.Gln100Ter	coding	Pathogenic
2	214792384	G	A	G214792384A	BARD1	NM_000465.4(BARD1):c.277C>T:p.Gln93Ter	coding	Pathogenic
2	214792389	C	T	C214792389T	BARD1	NM_000465.4(BARD1):c.272G>A:p.Trp91Ter	coding	Pathogenic
2	214792414	A	G	A214792414G	BARD1	NM_000465.4(BARD1):c.247T>C:p.Cys83Arg	coding	Pathogenic/Likely_pathogenic
2	214792417	C	A	C214792417A	BARD1	NM_000465.4(BARD1):c.244G>T:p.Gly82Ter	coding	Pathogenic
2	214792454	T	A	T214792454A	BARD1	NM_000465.4(BARD1):c.216-9A>T	noncoding	Benign
2	214796956	G	C	G214796956C	BARD1	NM_000465.4(BARD1):c.215+105C>G	noncoding	Benign
2	214797049	G	A	G214797049A	BARD1	NM_000465.4(BARD1):c.215+12C>T	noncoding	Benign/Likely_benign
2	214797064	C	T	C214797064T	BARD1	NM_000465.4(BARD1):c.212G>A:p.Cys71Tyr	coding	Pathogenic
2	214797086	C	A	C214797086A	BARD1	NM_000465.4(BARD1):c.190G>T:p.Gly64Ter	coding	Pathogenic
2	214809468	C	T	C214809468T	BARD1	NM_000465.4(BARD1):c.102G>A:p.Trp34Ter	coding	Pathogenic/Likely_pathogenic
2	214809480	A	T	A214809480T	BARD1	NM_000465.4(BARD1):c.90T>A:p.Gly30=	coding	Benign/Likely_benign
2	214809491	C	A	C214809491A	BARD1	NM_000465.4(BARD1):c.79G>T:p.Glu27Ter	coding	Pathogenic/Likely_pathogenic
2	214809500	G	A	G214809500A	BARD1	NM_000465.4(BARD1):c.70C>T:p.Pro24Ser	coding	Benign
2	214809513	C	T	C214809513T	BARD1	NM_000465.4(BARD1):c.57G>A:p.Glu19=	coding	Benign/Likely_benign
2	214809537	C	A	C214809537A	BARD1	NM_000465.4(BARD1):c.33G>T:p.Gln11His	coding	Benign/Likely_benign
2	214809599	C	G	C214809599G	BARD1	NM_000465.4(BARD1):c.-30G>C	noncoding	Benign
2	214809617	A	G	A214809617G	BARD1	NM_000465.4(BARD1):c.-48T>C	noncoding	Benign
2	214809647	C	T	C214809647T	BARD1	NM_000465.4(BARD1):c.-78G>A	noncoding	Benign
2	214809652	G	A	G214809652A	BARD1	NM_000465.4(BARD1):c.-83C>T	noncoding	Benign/Likely_benign
2	214931753	A	G	A214931753G	ABCA12	NM_173076.3(ABCA12):c.*881T>C	noncoding	Benign
2	214931844	T	C	T214931844C	ABCA12	NM_173076.3(ABCA12):c.*790A>G	noncoding	Benign
2	214932149	A	G	A214932149G	ABCA12	NM_173076.3(ABCA12):c.*485T>C	noncoding	Benign
2	214932324	T	C	T214932324C	ABCA12	NM_173076.3(ABCA12):c.*310A>G	noncoding	Benign
2	214932608	C	T	C214932608T	ABCA12	NM_173076.3(ABCA12):c.*26G>A	noncoding	Benign
2	214937608	G	A	G214937608A	ABCA12	NM_173076.3(ABCA12):c.7444C>T:p.Arg2482Ter	coding	Pathogenic
2	214947573	G	A	G214947573A	ABCA12	NM_173076.3(ABCA12):c.7105-17C>T	noncoding	Benign
2	214948607	C	T	C214948607T	ABCA12	NM_173076.3(ABCA12):c.7093G>A:p.Asp2365Asn	coding	Benign
2	214950912	T	C	T214950912C	ABCA12	NM_173076.3(ABCA12):c.6819A>G:p.Val2273=	coding	Benign/Likely_benign
2	214951083	C	A	C214951083A	ABCA12	NM_173076.3(ABCA12):c.6648G>T:p.Arg2216Ser	coding	Benign
2	214953891	G	A	G214953891A	ABCA12	NM_173076.3(ABCA12):c.6610C>T:p.Arg2204Ter	coding	Pathogenic
2	214954000	G	A	G214954000A	ABCA12	NM_173076.3(ABCA12):c.6501C>T:p.Asp2167=	coding	Benign/Likely_benign
2	214955196	C	A	C214955196A	ABCA12	NM_173076.3(ABCA12):c.6393+6G>T	noncoding	Benign
2	214955242	G	C	G214955242C	ABCA12	NM_173076.3(ABCA12):c.6353C>G:p.Ser2118Ter	coding	Pathogenic
2	214955289	G	A	G214955289A	ABCA12	NM_173076.3(ABCA12):c.6306C>T:p.Tyr2102=	coding	Benign
2	214956737	A	T	A214956737T	ABCA12	NM_173076.3(ABCA12):c.6159T>A:p.Ile2053=	coding	Benign
2	214958415	G	C	G214958415C	ABCA12	NM_173076.3(ABCA12):c.5979C>G:p.Ile1993Met	coding	Benign
2	214959038	G	A	G214959038A	ABCA12	NM_173076.3(ABCA12):c.5925C>T:p.Asp1975=	coding	Benign
2	214966945	A	C	A214966945C	ABCA12	NM_173076.3(ABCA12):c.5787T>G:p.Tyr1929Ter	coding	Pathogenic
2	214970344	T	A	T214970344A	ABCA12	NM_173076.3(ABCA12):c.5619A>T:p.Val1873=	coding	Benign
2	214970346	C	T	C214970346T	ABCA12	NM_173076.3(ABCA12):c.5617G>A:p.Val1873Ile	coding	Benign/Likely_benign
2	214974058	A	G	A214974058G	ABCA12	NM_173076.3(ABCA12):c.5469-16T>C	noncoding	Benign
2	214974832	G	C	G214974832C	ABCA12	NM_173076.3(ABCA12):c.5414C>G:p.Ser1805Ter	coding	Pathogenic
2	214974846	C	T	C214974846T	ABCA12	NM_173076.3(ABCA12):c.5400G>A:p.Thr1800=	coding	Benign
2	214975784	C	G	C214975784G	ABCA12	NM_173076.3(ABCA12):c.5381+1G>C	noncoding	Pathogenic
2	214975805	G	A	G214975805A	ABCA12	NM_173076.3(ABCA12):c.5361C>T:p.Ser1787=	coding	Benign
2	214975935	C	T	C214975935T	ABCA12	NM_173076.3(ABCA12):c.5231G>A:p.Trp1744Ter	coding	Pathogenic
2	214978830	C	T	C214978830T	ABCA12	NM_173076.3(ABCA12):c.4951G>A:p.Gly1651Ser	coding	Pathogenic
2	214978840	G	A	G214978840A	ABCA12	NM_173076.3(ABCA12):c.4941C>T:p.Ile1647=	coding	Benign
2	214980608	C	T	C214980608T	ABCA12	NM_173076.3(ABCA12):c.4615G>A:p.Glu1539Lys	coding	Pathogenic
2	214980609	G	A	G214980609A	ABCA12	NM_173076.3(ABCA12):c.4614C>T:p.Asp1538=	coding	Benign
2	214982225	C	T	C214982225T	ABCA12	NM_173076.3(ABCA12):c.4541G>A:p.Arg1514His	coding	Pathogenic
2	214983661	G	A	G214983661A	ABCA12	NM_173076.3(ABCA12):c.4368C>T:p.His1456=	coding	Benign
2	214983804	T	C	T214983804C	ABCA12	NM_173076.3(ABCA12):c.4225A>G:p.Ile1409Val	coding	Benign/Likely_benign
2	214986522	A	G	A214986522G	ABCA12	NM_173076.3(ABCA12):c.4163+20T>C	noncoding	Benign
2	214986563	C	T	C214986563T	ABCA12	NM_173076.3(ABCA12):c.4142G>A:p.Gly1381Glu	coding	Pathogenic
2	214986566	T	C	T214986566C	ABCA12	NM_173076.3(ABCA12):c.4139A>G:p.Asn1380Ser	coding	Pathogenic/Likely_pathogenic
2	214986579	A	G	A214986579G	ABCA12	NM_173076.3(ABCA12):c.4126T>C:p.Leu1376=	coding	Benign
2	214986597	C	A	C214986597A	ABCA12	NM_173076.3(ABCA12):c.4108G>T:p.Glu1370Ter	coding	Pathogenic
2	214987734	G	A	G214987734A	ABCA12	NM_173076.3(ABCA12):c.3889C>T:p.Arg1297Ter	coding	Pathogenic
2	214989432	C	T	C214989432T	ABCA12	NM_173076.3(ABCA12):c.3726G>A:p.Pro1242=	coding	Benign
2	214989568	G	A	G214989568A	ABCA12	NM_173076.3(ABCA12):c.3678C>T:p.Tyr1226=	coding	Benign
2	214990791	C	T	C214990791T	ABCA12	NM_173076.3(ABCA12):c.3535G>A:p.Gly1179Arg	coding	Pathogenic
2	214990845	T	A	T214990845A	ABCA12	NM_173076.3(ABCA12):c.3481A>T:p.Met1161Leu	coding	Benign/Likely_benign
2	214997733	T	A	T214997733A	ABCA12	NM_173076.3(ABCA12):c.3256A>T:p.Lys1086Ter	coding	Pathogenic
2	215000851	T	C	T215000851C	ABCA12	NM_173076.3(ABCA12):c.3033A>G:p.Pro1011=	coding	Benign
2	215004300	C	T	C215004300T	ABCA12	NM_173076.3(ABCA12):c.2593-1G>A	coding	Pathogenic
2	215011442	A	T	A215011442T	ABCA12	NM_173076.3(ABCA12):c.2329T>A:p.Ser777Thr	coding	Benign
2	215011476	C	T	C215011476T	ABCA12	NM_173076.3(ABCA12):c.2295G>A:p.Glu765=	coding	Benign
2	215011631	G	A	G215011631A	ABCA12	NM_173076.3(ABCA12):c.2140C>T:p.Arg714Ter	coding	Pathogenic
2	215011647	T	C	T215011647C	ABCA12	NM_173076.3(ABCA12):c.2124A>G:p.Ala708=	coding	Benign
2	215011969	A	C	A215011969C	ABCA12	NM_173076.3(ABCA12):c.2121+2T>G	noncoding	Pathogenic
2	215015523	C	G	C215015523G	ABCA12	NM_173076.3(ABCA12):c.1923G>C:p.Leu641=	coding	Benign/Likely_benign
2	215015554	C	T	C215015554T	ABCA12	NM_173076.3(ABCA12):c.1892G>A:p.Arg631Gln	coding	Benign
2	215018025	G	T	G215018025T	ABCA12	NM_173076.3(ABCA12):c.1765C>A:p.Pro589Thr	coding	Benign/Likely_benign
2	215019344	T	C	T215019344C	ABCA12	NM_173076.3(ABCA12):c.1649A>G:p.Glu550Gly	coding	Benign
2	215019368	A	G	A215019368G	ABCA12	NM_173076.3(ABCA12):c.1625T>C:p.Val542Ala	coding	Benign
2	215019656	C	T	C215019656T	ABCA12	NM_173076.3(ABCA12):c.1428G>A:p.Ala476=	coding	Benign
2	215019708	C	G	C215019708G	ABCA12	NM_173076.3(ABCA12):c.1376G>C:p.Ser459Thr	coding	Benign
2	215019784	G	A	G215019784A	ABCA12	NM_173076.3(ABCA12):c.1300C>T:p.Arg434Ter	coding	Pathogenic
2	215025738	A	G	A215025738G	ABCA12	NM_173076.3(ABCA12):c.1222T>C:p.Ser408Pro	coding	Benign/Likely_benign
2	215026935	G	A	G215026935A	ABCA12	NM_173076.3(ABCA12):c.1065C>T:p.Leu355=	coding	Benign
2	215026946	A	T	A215026946T	ABCA12	NM_173076.3(ABCA12):c.1062-8T>A	noncoding	Benign/Likely_benign
2	215036964	G	A	G215036964A	ABCA12	NM_173076.3(ABCA12):c.974C>T:p.Ser325Phe	coding	Benign/Likely_benign
2	215037050	C	T	C215037050T	ABCA12	NM_173076.3(ABCA12):c.888G>A:p.Val296=	coding	Benign
2	215045850	G	A	G215045850A	ABCA12	NM_173076.3(ABCA12):c.859C>T:p.Arg287Ter	coding	Pathogenic
2	215045850	G	C	G215045850C	ABCA12	NM_173076.3(ABCA12):c.859C>G:p.Arg287Gly	coding	Benign
2	215045888	T	C	T215045888C	ABCA12	NM_173076.3(ABCA12):c.821A>G:p.Gln274Arg	coding	Benign
2	215046000	T	G	T215046000G	ABCA12	NM_173076.3(ABCA12):c.709A>C:p.Asn237His	coding	Benign
2	215049722	C	G	C215049722G	ABCA12	NM_173076.3(ABCA12):c.597G>C:p.Trp199Cys	coding	Benign
2	215049723	C	T	C215049723T	ABCA12	NM_173076.3(ABCA12):c.596G>A:p.Trp199Ter	coding	Pathogenic
2	215049767	T	C	T215049767C	ABCA12	NM_173076.3(ABCA12):c.552A>G:p.Leu184=	coding	Benign
2	215049770	T	C	T215049770C	ABCA12	NM_173076.3(ABCA12):c.549A>G:p.Glu183=	coding	Benign/Likely_benign
2	215064205	G	A	G215064205A	ABCA12	NM_173076.3(ABCA12):c.178C>T:p.Arg60Ter	coding	Pathogenic
2	215312147	C	T	C215312147T	ATIC	NM_004044.7(ATIC):c.5C>T:p.Ala2Val	coding	Benign
2	215319657	T	A	T215319657A	ATIC	NM_004044.7(ATIC):c.224-8T>A	noncoding	Benign
2	215319722	A	G	A215319722G	ATIC	NM_004044.7(ATIC):c.281A>G:p.Asn94Ser	coding	Benign
2	215325297	C	G	C215325297G	ATIC	NM_004044.7(ATIC):c.347C>G:p.Thr116Ser	coding	Benign
2	215326863	T	G	T215326863G	ATIC	NM_004044.7(ATIC):c.573T>G:p.Asp191Glu	coding	Benign
2	215326885	A	G	A215326885G	ATIC	NM_004044.7(ATIC):c.595A>G:p.Lys199Glu	coding	Benign
2	215326890	C	T	C215326890T	ATIC	NM_004044.7(ATIC):c.600C>T:p.Gly200=	coding	Benign
2	215334951	G	A	G215334951A	ATIC	NM_004044.7(ATIC):c.955G>A:p.Val319Ile	coding	Benign
2	215344785	G	A	G215344785A	ATIC	NM_004044.7(ATIC):c.1234G>A:p.Glu412Lys	coding	Benign/Likely_benign
2	215344828	A	G	A215344828G	ATIC	NM_004044.7(ATIC):c.1277A>G:p.Lys426Arg	coding	Pathogenic
2	215346926	T	C	T215346926C	ATIC	NM_004044.7(ATIC):c.1488T>C:p.Thr496=	coding	Benign
2	215346932	C	G	C215346932G	ATIC	NM_004044.7(ATIC):c.1494C>G:p.Thr498=	coding	Benign
2	215346937	G	A	G215346937A	ATIC	NM_004044.7(ATIC):c.1499G>A:p.Gly500Asp	coding	Benign
2	215349244	A	T	A215349244T	ATIC	NM_004044.7(ATIC):c.1654A>T:p.Lys552Ter	coding	Pathogenic
2	215349546	C	T	C215349546T	ATIC	NM_004044.7(ATIC):c.1670C>T:p.Ala557Val	coding	Benign/Likely_benign
2	215364948	G	A	G215364948A	FN1	NM_212482.3(FN1):c.7182C>T:p.His2394=	coding	Benign
2	215367856	T	C	T215367856C	FN1	NM_212482.3(FN1):c.7018+7A>G	noncoding	Benign
2	215375685	A	C	A215375685C	FN1	NM_002026.3(FN1):c.5648T>G:p.Leu1883Arg	coding	Pathogenic
2	215375685	A	G	A215375685G	FN1	NM_212482.3(FN1):c.5921T>C:p.Leu1974Pro	coding	Pathogenic
2	215376610	C	G	C215376610G	FN1	NM_212482.3(FN1):c.5775G>C:p.Trp1925Cys	coding	Pathogenic
2	215376612	A	T	A215376612T	FN1	NM_002026.3(FN1):c.5500T>A:p.Trp1834Arg	coding	Pathogenic
2	215379220	T	G	T215379220G	FN1	NM_212482.3(FN1):c.5532A>C:p.Arg1844=	coding	Benign
2	215384123	G	A	G215384123A	FN1	NM_212482.3(FN1):c.4791C>T:p.Ser1597=	coding	Benign
2	215391665	T	C	T215391665C	FN1	NM_212482.3(FN1):c.4219A>G:p.Ile1407Val	coding	Benign
2	215391720	G	A	G215391720A	FN1	NM_212482.3(FN1):c.4164C>T:p.Asn1388=	coding	Benign
2	215391738	T	C	T215391738C	FN1	NM_212482.3(FN1):c.4146A>G:p.Pro1382=	coding	Benign
2	215393163	G	A	G215393163A	FN1	NM_212482.3(FN1):c.3837C>T:p.Thr1279=	coding	Benign
2	215397128	C	T	C215397128T	FN1	NM_212482.3(FN1):c.3604+9G>A	noncoding	Benign
2	215399298	T	G	T215399298G	FN1	NM_212482.3(FN1):c.3307A>C:p.Ile1103Leu	coding	Benign
2	215404453	G	A	G215404453A	FN1	NM_212482.3(FN1):c.3189C>T:p.Thr1063=	coding	Benign
2	215404524	T	C	T215404524C	FN1	NM_212482.3(FN1):c.3118A>G:p.Arg1040Gly	coding	Benign
2	215404591	C	A	C215404591A	FN1	NM_212482.3(FN1):c.3051G>T:p.Trp1017Cys	coding	Pathogenic
2	215406306	T	C	T215406306C	FN1	NM_212482.3(FN1):c.2918A>G:p.Tyr973Cys	coding	Pathogenic
2	215406395	G	A	G215406395A	FN1	NM_212482.3(FN1):c.2829C>T:p.Pro943=	coding	Benign
2	215406416	G	C	G215406416C	FN1	NM_212482.3(FN1):c.2808C>G:p.Gly936=	coding	Benign
2	215407248	G	A	G215407248A	FN1	NM_212482.3(FN1):c.2592C>T:p.Ser864=	coding	Benign
2	215409718	G	A	G215409718A	FN1	NM_212482.3(FN1):c.2144C>T:p.Thr715Met	coding	Benign
2	215409732	G	A	G215409732A	FN1	NM_212482.3(FN1):c.2130C>T:p.Thr710=	coding	Benign
2	215409733	G	A	G215409733A	FN1	NM_212482.3(FN1):c.2129C>T:p.Thr710Ile	coding	Benign
2	215420677	G	A	G215420677A	FN1	NM_212482.3(FN1):c.1671C>T:p.Pro557=	coding	Benign
2	215420722	G	A	G215420722A	FN1	NM_212482.3(FN1):c.1626C>T:p.Asn542=	coding	Benign
2	215420807	T	C	T215420807C	FN1	NM_212482.3(FN1):c.1547-6A>G	noncoding	Benign
2	215422107	G	A	G215422107A	FN1	NM_212482.3(FN1):c.1530C>T:p.Ala510=	coding	Benign
2	215422212	C	G	C215422212G	FN1	NM_212482.3(FN1):c.1425G>C:p.Gly475=	coding	Benign
2	215423382	G	T	G215423382T	FN1	NM_212482.3(FN1):c.1361C>A:p.Ala454Asp	coding	Benign
2	215424219	G	A	G215424219A	FN1	NM_212482.3(FN1):c.1143C>T:p.Asp381=	coding	Benign
2	215424252	C	T	C215424252T	FN1	NM_212482.3(FN1):c.1110G>A:p.Thr370=	coding	Benign
2	215424261	A	G	A215424261G	FN1	NM_212482.3(FN1):c.1101T>C:p.Asn367=	coding	Benign
2	215425107	G	A	G215425107A	FN1	NM_212482.3(FN1):c.1023C>T:p.Ser341=	coding	Benign
2	215430714	C	G	C215430714G	FN1	NM_002026.3(FN1):c.685+1G>C	noncoding	Pathogenic
2	215430809	G	T	G215430809T	FN1	NM_212482.3(FN1):c.591C>A:p.Val197=	coding	Benign
2	215433426	T	G	T215433426G	FN1	NM_212482.3(FN1):c.313A>C:p.Thr105Pro	coding	Benign
2	215434774	G	T	G215434774T	FN1	NM_212482.3(FN1):c.199C>A:p.Arg67=	coding	Benign
2	215435682	A	C	A215435682C	FN1	NM_212482.3(FN1):c.121T>G:p.Ser41Ala	coding	Benign
2	215435686	G	C	G215435686C	FN1	NM_212482.3(FN1):c.117C>G:p.Pro39=	coding	Benign
2	215435747	G	A	G215435747A	FN1	NM_212482.3(FN1):c.56C>T:p.Thr19Ile	coding	Benign
2	215435749	C	G	C215435749G	FN1	NM_212482.3(FN1):c.54G>C:p.Gly18=	coding	Benign
2	215435759	T	A	T215435759A	FN1	NM_002026.3(FN1):c.44A>T:p.Gln15Leu	coding	Benign
2	215435763	C	G	C215435763G	FN1	NM_212482.3(FN1):c.40G>C:p.Val14Leu	coding	Benign
2	216058896	C	G	C216058896G	PECR	NM_018441.6(PECR):c.505G>C:p.Val169Leu	coding	Benign
2	216066394	A	G	A216066394G	PECR	NM_018441.6(PECR):c.249T>C:p.Asn83=	coding	Benign
2	216066460	T	C	T216066460C	PECR	NM_018441.6(PECR):c.183A>G:p.Glu61=	coding	Benign
2	216141316	T	C	T216141316C	XRCC5	NM_021141.4(XRCC5):c.1473T>C:p.Phe491=	coding	Benign
2	216204378	T	C	T216204378C	XRCC5	NM_021141.4(XRCC5):c.2166T>C:p.Gly722=	coding	Benign
2	216259654	C	T	C216259654T	MARCHF4	NM_020814.3(MARCHF4):c.891G>A:p.Ser297=	coding	Benign
2	216412526	C	T	C216412526T	SMARCAL1	NM_014140.3(SMARCAL1):c.-218C>T	noncoding	Benign
2	216414753	C	T	C216414753T	SMARCAL1	NM_014140.3(SMARCAL1):c.49C>T:p.Arg17Ter	coding	Pathogenic
2	216414776	A	G	A216414776G	SMARCAL1	NM_014140.3(SMARCAL1):c.72A>G:p.Arg24=	coding	Benign
2	216414804	C	T	C216414804T	SMARCAL1	NM_014140.3(SMARCAL1):c.100C>T:p.Gln34Ter	coding	Pathogenic
2	216414831	G	A	G216414831A	SMARCAL1	NM_014140.3(SMARCAL1):c.127G>A:p.Ala43Thr	coding	Benign
2	216415045	G	A	G216415045A	SMARCAL1	NM_014140.3(SMARCAL1):c.341G>A:p.Arg114His	coding	Benign
2	216415127	T	C	T216415127C	SMARCAL1	NM_014140.3(SMARCAL1):c.423T>C:p.Tyr141=	coding	Benign
2	216415149	C	T	C216415149T	SMARCAL1	NM_014140.4(SMARCAL1):c.445C>T:p.Gln149Ter	coding	Pathogenic
2	216415307	G	C	G216415307C	SMARCAL1	NM_014140.3(SMARCAL1):c.603G>C:p.Gly201=	coding	Benign/Likely_benign
2	216415427	C	A	C216415427A	SMARCAL1	NM_001127207.2(SMARCAL1):c.723C>A:p.Cys241Ter	coding	Pathogenic
2	216420297	A	G	A216420297G	SMARCAL1	NM_014140.3(SMARCAL1):c.863-2A>G	noncoding	Pathogenic
2	216420337	C	G	C216420337G	SMARCAL1	NM_014140.3(SMARCAL1):c.901C>G:p.Pro301Ala	coding	Benign
2	216420381	C	G	C216420381G	SMARCAL1	NM_014140.3(SMARCAL1):c.945C>G:p.Ser315Arg	coding	Benign
2	216420396	C	T	C216420396T	SMARCAL1	NM_014140.3(SMARCAL1):c.960C>T:p.Ala320=	coding	Benign
2	216423665	G	C	G216423665C	SMARCAL1	NM_014140.3(SMARCAL1):c.1129G>C:p.Glu377Gln	coding	Benign
2	216423668	G	T	G216423668T	SMARCAL1	NM_014140.3(SMARCAL1):c.1132G>T:p.Glu378Ter	coding	Pathogenic
2	216428660	G	A	G216428660A	SMARCAL1	NM_014140.3(SMARCAL1):c.1212G>A:p.Ala404=	coding	Benign/Likely_benign
2	216428691	A	G	A216428691G	SMARCAL1	NM_014140.3(SMARCAL1):c.1243A>G:p.Ser415Gly	coding	Benign
2	216428719	A	T	A216428719T	SMARCAL1	NM_014140.3(SMARCAL1):c.1271A>T:p.Asp424Val	coding	Benign/Likely_benign
2	216432866	C	T	C216432866T	SMARCAL1	NM_014140.3(SMARCAL1):c.1483C>T:p.Gln495Ter	coding	Pathogenic
2	216435351	G	A	G216435351A	SMARCAL1	NM_014140.4(SMARCAL1):c.1499G>A:p.Trp500Ter	coding	Pathogenic
2	216435386	G	A	G216435386A	SMARCAL1	NM_014140.4(SMARCAL1):c.1534G>A:p.Val512Met	coding	Benign
2	216435495	T	A	T216435495A	SMARCAL1	NM_014140.3(SMARCAL1):c.1643T>A:p.Ile548Asn	coding	Pathogenic
2	216438462	C	T	C216438462T	SMARCAL1	NM_014140.4(SMARCAL1):c.1687C>T:p.Arg563Ter	coding	Pathogenic
2	216447043	C	T	C216447043T	SMARCAL1	NM_014140.4(SMARCAL1):c.1736C>T:p.Ser579Leu	coding	Pathogenic
2	216447063	C	T	C216447063T	SMARCAL1	NM_014140.3(SMARCAL1):c.1756C>T:p.Arg586Trp	coding	Pathogenic
2	216450927	C	T	C216450927T	SMARCAL1	NM_014140.3(SMARCAL1):c.1933C>T:p.Arg645Cys	coding	Pathogenic
2	216450941	C	T	C216450941T	SMARCAL1	NM_014140.3(SMARCAL1):c.1947C>T:p.Asp649=	coding	Benign
2	216450989	C	T	C216450989T	SMARCAL1	NM_014140.3(SMARCAL1):c.1995C>T:p.Ala665=	coding	Benign/Likely_benign
2	216451064	T	C	T216451064C	SMARCAL1	NM_014140.3(SMARCAL1):c.2070T>C:p.Thr690=	coding	Benign
2	216464684	T	C	T216464684C	SMARCAL1	NM_014140.3(SMARCAL1):c.2141+17T>C	noncoding	Benign
2	216468028	G	A	G216468028A	SMARCAL1	NM_014140.3(SMARCAL1):c.2226G>A:p.Thr742=	coding	Benign/Likely_benign
2	216475315	G	A	G216475315A	SMARCAL1	NM_014140.3(SMARCAL1):c.2291G>A:p.Arg764Gln	coding	Pathogenic
2	216475345	C	A	C216475345A	SMARCAL1	NM_014140.3(SMARCAL1):c.2321C>A:p.Ser774Ter	coding	Pathogenic
2	216477140	G	A	G216477140A	SMARCAL1	NM_014140.4(SMARCAL1):c.2459G>A:p.Arg820His	coding	Pathogenic/Likely_pathogenic
2	216478216	G	T	G216478216T	SMARCAL1	NM_001127207.2(SMARCAL1):c.2542G>T:p.Glu848Ter	coding	Pathogenic
2	216482761	C	T	C216482761T	SMARCAL1	NM_014140.4(SMARCAL1):c.2649C>T:p.Tyr883=	coding	Benign
2	217804558	G	A	G217804558A	TNS1	NM_022648.6(TNS1):c.5109C>T:p.Asn1703=	coding	Benign
2	217817897	C	T	C217817897T	TNS1	NM_022648.6(TNS1):c.4123G>A:p.Ala1375Thr	coding	Benign
2	217818200	G	T	G217818200T	TNS1	NM_022648.6(TNS1):c.3820C>A:p.Arg1274=	coding	Benign
2	217818510	G	A	G217818510A	TNS1	NM_022648.6(TNS1):c.3510C>T:p.Gly1170=	coding	Benign
2	217821806	G	T	G217821806T	TNS1	NM_022648.6(TNS1):c.3194C>A:p.Thr1065Asn	coding	Benign
2	217836045	G	A	G217836045A	TNS1	NM_022648.6(TNS1):c.2799C>T:p.Ile933=	coding	Benign
2	217848972	C	T	C217848972T	TNS1	NM_022648.6(TNS1):c.1170G>A:p.Ser390=	coding	Benign
2	217849049	G	C	G217849049C	TNS1	NM_022648.6(TNS1):c.1093C>G:p.Leu365Val	coding	Benign
2	217880959	G	A	G217880959A	TNS1	NM_022648.6(TNS1):c.993C>T:p.Asp331=	coding	Benign
2	217897855	C	G	C217897855G	TNS1	NM_022648.6(TNS1):c.111G>C:p.Arg37=	coding	Benign
2	217897950	T	C	T217897950C	TNS1	NM_022648.6(TNS1):c.16A>G:p.Thr6Ala	coding	Benign
2	218134891	C	T	C218134891T	CXCR2	NM_001557.4(CXCR2):c.90C>T:p.Pro30=	coding	Benign
2	218135470	A	G	A218135470G	CXCR2	NM_001557.4(CXCR2):c.669A>G:p.Pro223=	coding	Benign
2	218135522	G	A	G218135522A	CXCR2	NM_001557.4(CXCR2):c.721G>A:p.Ala241Thr	coding	Benign
2	218135842	C	T	C218135842T	CXCR2	NM_001557.4(CXCR2):c.1041C>T:p.Ser347=	coding	Benign
2	218164187	G	A	G218164187A	CXCR1	NM_000634.3(CXCR1):c.1025C>T:p.Ser342Leu	coding	Benign
2	218164579	G	T	G218164579T	CXCR1	NM_000634.3(CXCR1):c.633C>A:p.Phe211Leu	coding	Benign
2	218164924	G	A	G218164924A	CXCR1	NM_000634.3(CXCR1):c.288C>T:p.Ala96=	coding	Benign
2	218217477	C	T	C218217477T	ARPC2	NM_152862.3(ARPC2):c.7C>T:p.Leu3=	coding	Benign
2	218249361	C	T	C218249361T	ARPC2	NM_152862.3(ARPC2):c.677-3C>T	noncoding	Benign
2	218262745	C	G	C218262745G	GPBAR1	NM_170699.3(GPBAR1):c.21C>G:p.Gly7=	coding	Benign
2	218263229	G	A	G218263229A	GPBAR1	NM_170699.3(GPBAR1):c.505G>A:p.Glu169Lys	coding	Benign
2	218263360	C	T	C218263360T	GPBAR1	NM_170699.3(GPBAR1):c.636C>T:p.Ser212=	coding	Benign/Likely_benign
2	218263611	A	G	A218263611G	GPBAR1	NM_170699.3(GPBAR1):c.887A>G:p.Gln296Arg	coding	Benign
2	218270555	C	T	C218270555T	PNKD	NM_015488.5(PNKD):c.20C>T:p.Ala7Val	coding	Pathogenic
2	218270561	C	T	C218270561T	PNKD	NM_015488.5(PNKD):c.26C>T:p.Ala9Val	coding	Pathogenic
2	218271410	G	C	G218271410C	PNKD	NM_015488.5(PNKD):c.97G>C:p.Ala33Pro	coding	Benign
2	218272729	G	A	G218272729A	PNKD	NM_015488.5(PNKD):c.236+1180G>A	coding	Benign
2	218339752	G	T	G218339752T	PNKD	NM_015488.5(PNKD):c.237-31G>T	noncoding	Benign
2	218339774	G	A	G218339774A	PNKD	NM_015488.5(PNKD):c.237-9G>A	noncoding	Benign/Likely_benign
2	218339800	G	A	G218339800A	PNKD	NM_015488.5(PNKD):c.254G>A:p.Arg85His	coding	Benign/Likely_benign
2	218339811	G	A	G218339811A	PNKD	NM_015488.5(PNKD):c.265G>A:p.Gly89Arg	coding	Benign/Likely_benign
2	218339867	C	T	C218339867T	PNKD	NM_015488.5(PNKD):c.321C>T:p.Gly107=	coding	Benign
2	218339877	A	G	A218339877G	PNKD	NM_015488.5(PNKD):c.331A>G:p.Thr111Ala	coding	Benign/Likely_benign
2	218339896	A	G	A218339896G	PNKD	NM_015488.5(PNKD):c.350A>G:p.Asn117Ser	coding	Benign
2	218339910	C	T	C218339910T	PNKD	NM_015488.5(PNKD):c.352+12C>T	noncoding	Benign
2	218340005	C	T	C218340005T	PNKD	NM_015488.5(PNKD):c.353-24C>T	noncoding	Benign
2	218340131	G	A	G218340131A	PNKD	NM_015488.5(PNKD):c.455G>A:p.Arg152Gln	coding	Benign
2	218340717	C	T	C218340717T	PNKD	NM_015488.5(PNKD):c.466-11C>T	noncoding	Benign
2	218340725	C	A	C218340725A	PNKD	NM_015488.5(PNKD):c.466-3C>A	noncoding	Benign/Likely_benign
2	218340748	G	A	G218340748A	PNKD	NM_015488.5(PNKD):c.486G>A:p.Gly162=	coding	Benign
2	218340799	C	T	C218340799T	PNKD	NM_015488.5(PNKD):c.524+13C>T	noncoding	Benign
2	218341569	G	A	G218341569A	PNKD	NM_015488.5(PNKD):c.560G>A:p.Arg187Gln	coding	Benign
2	218342015	C	A	C218342015A	PNKD	NM_015488.5(PNKD):c.652C>A:p.Arg218=	coding	Benign
2	218342016	G	A	G218342016A	PNKD	NM_015488.5(PNKD):c.653G>A:p.Arg218Gln	coding	Benign/Likely_benign
2	218342156	C	T	C218342156T	PNKD	NM_015488.5(PNKD):c.781+12C>T	noncoding	Benign/Likely_benign
2	218343553	C	T	C218343553T	PNKD	NM_015488.5(PNKD):c.835C>T:p.Leu279=	coding	Benign
2	218344473	A	G	A218344473G	PNKD	NM_015488.5(PNKD):c.887A>G:p.Glu296Gly	coding	Benign
2	218344505	G	A	G218344505A	PNKD	NM_015488.5(PNKD):c.919G>A:p.Glu307Lys	coding	Benign/Likely_benign
2	218344516	C	G	C218344516G	PNKD	NM_015488.5(PNKD):c.930C>G:p.Ala310=	coding	Benign
2	218344525	G	A	G218344525A	PNKD	NM_015488.5(PNKD):c.939G>A:p.Arg313=	coding	Benign
2	218344545	G	A	G218344545A	PNKD	NM_015488.5(PNKD):c.959G>A:p.Arg320Gln	coding	Benign/Likely_benign
2	218345014	C	T	C218345014T	PNKD	NM_015488.5(PNKD):c.*33C>T	noncoding	Benign
2	218345019	G	A	G218345019A	PNKD	NM_015488.5(PNKD):c.*38G>A	noncoding	Benign
2	218345073	C	A	C218345073A	PNKD	NM_015488.5(PNKD):c.*92C>A	noncoding	Benign
2	218345162	G	C	G218345162C	PNKD	NM_015488.5(PNKD):c.*181G>C	noncoding	Benign
2	218345192	C	T	C218345192T	PNKD	NM_015488.5(PNKD):c.*211C>T	noncoding	Benign
2	218345432	A	G	A218345432G	PNKD	NM_015488.5(PNKD):c.*451A>G	noncoding	Benign
2	218345488	G	C	G218345488C	PNKD	NM_015488.5(PNKD):c.*507G>C	noncoding	Benign
2	218345588	T	C	T218345588C	PNKD	NM_015488.5(PNKD):c.*607T>C	noncoding	Benign
2	218345883	T	C	T218345883C	PNKD	NM_015488.5(PNKD):c.*902T>C	noncoding	Benign
2	218345963	C	T	C218345963T	PNKD	NM_015488.5(PNKD):c.*982C>T	noncoding	Benign
2	218345973	C	G	C218345973G	PNKD	NM_015488.5(PNKD):c.*992C>G	noncoding	Benign
2	218346058	G	A	G218346058A	PNKD	NM_015488.5(PNKD):c.*1077G>A	noncoding	Benign
2	218346120	C	G	C218346120G	PNKD	NM_015488.5(PNKD):c.*1139C>G	noncoding	Benign
2	218346122	G	A	G218346122A	PNKD	NM_015488.5(PNKD):c.*1141G>A	noncoding	Benign
2	218346174	C	T	C218346174T	PNKD	NM_015488.5(PNKD):c.*1193C>T	noncoding	Benign
2	218346530	G	A	G218346530A	PNKD	NM_015488.5(PNKD):c.*1549G>A	noncoding	Benign
2	218346646	G	A	G218346646A	PNKD	NM_015488.5(PNKD):c.*1665G>A	noncoding	Benign
2	218346704	T	C	T218346704C	PNKD	NM_015488.5(PNKD):c.*1723T>C	noncoding	Benign
2	218346706	T	C	T218346706C	PNKD	NM_015488.5(PNKD):c.*1725T>C	noncoding	Benign
2	218387156	T	G	T218387156G	SLC11A1	NM_000578.4(SLC11A1):c.501-4T>G	noncoding	Benign
2	218387181	C	T	C218387181T	SLC11A1	NM_000578.4(SLC11A1):c.522C>T:p.Val174=	coding	Benign
2	218392974	A	C	A218392974C	SLC11A1	NM_000578.4(SLC11A1):c.1165-7A>C	noncoding	Benign
2	218394133	T	C	T218394133C	SLC11A1	NM_000578.4(SLC11A1):c.1328T>C:p.Val443Ala	coding	Benign
2	218394735	G	A	G218394735A	SLC11A1	NM_000578.4(SLC11A1):c.1492G>A:p.Gly498Ser	coding	Benign
2	218401662	G	A	G218401662A	CTDSP1	NM_021198.3(CTDSP1):c.166G>A:p.Ala56Thr	coding	Benign
2	218401670	C	T	C218401670T	CTDSP1	NM_021198.3(CTDSP1):c.174C>T:p.Ser58=	coding	Benign
2	218429598	G	C	G218429598C	VIL1	NM_007127.3(VIL1):c.772G>C:p.Val258Leu	coding	Benign
2	218435387	C	A	C218435387A	VIL1	NM_007127.3(VIL1):c.1779C>A:p.Asn593Lys	coding	Benign
2	218436543	C	T	C218436543T	VIL1	NM_007127.3(VIL1):c.1888C>T:p.Arg630Cys	coding	Benign
2	218437171	C	T	C218437171T	VIL1	NM_007127.3(VIL1):c.2019C>T:p.Ala673=	coding	Benign
2	218454943	C	T	C218454943T	USP37	NM_020935.3(USP37):c.2927G>A:p.Arg976His	coding	Benign
2	218466124	G	A	G218466124A	USP37	NM_020935.3(USP37):c.2352C>T:p.Asn784=	coding	Benign
2	218510021	G	C	G218510021C	USP37	NM_020935.3(USP37):c.983C>G:p.Pro328Arg	coding	Benign
2	218648656	G	A	G218648656A	ZNF142	NM_001379659.1(ZNF142):c.1852C>T:p.Arg618Ter	coding	Pathogenic
2	218659756	A	G	A218659756G	BCS1L	NM_001079866.2(BCS1L):c.-50+13A>G	noncoding	Benign
2	218660284	G	A	G218660284A	BCS1L	NM_001079866.2(BCS1L):c.-50+541G>A	noncoding	Benign
2	218660612	C	T	C218660612T	BCS1L	NM_001079866.2(BCS1L):c.-49-327C>T	noncoding	Benign
2	218661090	G	C	G218661090C	BCS1L	NM_001079866.2(BCS1L):c.103G>C:p.Gly35Arg	coding	Pathogenic
2	218661120	C	T	C218661120T	BCS1L	NM_001079866.2(BCS1L):c.133C>T:p.Arg45Cys	coding	Pathogenic
2	218661129	A	G	A218661129G	BCS1L	NM_001079866.2(BCS1L):c.142A>G:p.Met48Val	coding	Benign/Likely_benign
2	218661135	A	G	A218661135G	BCS1L	NM_001079866.2(BCS1L):c.148A>G:p.Thr50Ala	coding	Pathogenic
2	218661153	C	T	C218661153T	BCS1L	NM_001079866.2(BCS1L):c.166C>T:p.Arg56Ter	coding	Pathogenic
2	218661219	A	G	A218661219G	BCS1L	NM_001079866.2(BCS1L):c.232A>G:p.Ser78Gly	coding	Pathogenic
2	218661232	C	A	C218661232A	BCS1L	NM_001079866.2(BCS1L):c.245C>A:p.Ser82Ter	coding	Pathogenic/Likely_pathogenic
2	218661283	C	T	C218661283T	BCS1L	NM_001079866.2(BCS1L):c.296C>T:p.Pro99Leu	coding	Pathogenic/Likely_pathogenic
2	218661440	C	T	C218661440T	BCS1L	NM_001079866.2(BCS1L):c.355C>T:p.Arg119Ter	coding	Pathogenic
2	218661515	C	T	C218661515T	BCS1L	NM_001079866.2(BCS1L):c.430C>T:p.Arg144Ter	coding	Pathogenic
2	218661750	C	T	C218661750T	BCS1L	NM_001079866.2(BCS1L):c.461-9C>T	noncoding	Benign/Likely_benign
2	218661762	G	C	G218661762C	BCS1L	NM_001079866.2(BCS1L):c.464G>C:p.Arg155Pro	coding	Pathogenic
2	218661826	G	A	G218661826A	BCS1L	NM_001079866.2(BCS1L):c.528G>A:p.Trp176Ter	coding	Pathogenic
2	218661846	G	A	G218661846A	BCS1L	NM_001079866.2(BCS1L):c.548G>A:p.Arg183His	coding	Pathogenic
2	218661854	C	T	C218661854T	BCS1L	NM_001079866.2(BCS1L):c.556C>T:p.Arg186Ter	coding	Pathogenic/Likely_pathogenic
2	218661896	C	T	C218661896T	BCS1L	NM_001079866.2(BCS1L):c.598C>T:p.Arg200Ter	coding	Pathogenic
2	218661926	G	A	G218661926A	BCS1L	NM_001079866.2(BCS1L):c.628G>A:p.Asp210Asn	coding	Benign/Likely_benign
2	218662016	C	T	C218662016T	BCS1L	NM_001079866.2(BCS1L):c.655+63C>T	noncoding	Benign
2	218662565	T	A	T218662565A	BCS1L	NM_001079866.2(BCS1L):c.775T>A:p.Ser259Thr	coding	Benign/Likely_benign
2	218662620	G	A	G218662620A	BCS1L	NM_001079866.2(BCS1L):c.830G>A:p.Ser277Asn	coding	Pathogenic
2	218662680	G	T	G218662680T	BCS1L	NM_001079866.2(BCS1L):c.889+1G>T	coding	Pathogenic/Likely_pathogenic
2	218662894	T	A	T218662894A	BCS1L	NM_001079866.2(BCS1L):c.901T>A:p.Tyr301Asn	coding	Pathogenic
2	218662896	C	G	C218662896G	BCS1L	NM_001079866.2(BCS1L):c.903C>G:p.Tyr301Ter	coding	Pathogenic
2	218662989	C	T	C218662989T	BCS1L	NM_001079866.2(BCS1L):c.996C>T:p.Asn332=	coding	Benign
2	218663016	G	A	G218663016A	BCS1L	NM_001079866.2(BCS1L):c.1007+16G>A	noncoding	Benign
2	218663143	T	C	T218663143C	BCS1L	NM_001079866.2(BCS1L):c.1017T>C:p.Pro339=	coding	Benign
2	218663183	G	A	G218663183A	BCS1L	NM_001079866.2(BCS1L):c.1057G>A:p.Val353Met	coding	Pathogenic
2	218679929	G	A	G218679929A	STK36	NM_015690.5(STK36):c.985G>A:p.Asp329Asn	coding	Benign
2	218680624	T	C	T218680624C	STK36	NM_015690.5(STK36):c.1158T>C:p.Asp386=	coding	Benign/Likely_benign
2	218685093	C	A	C218685093A	STK36	NM_015690.5(STK36):c.1245C>A:p.Asp415Glu	coding	Benign
2	218689909	C	T	C218689909T	STK36	NM_015690.5(STK36):c.1611C>T:p.Ala537=	coding	Benign
2	218690539	G	A	G218690539A	STK36	NM_015690.5(STK36):c.1748G>A:p.Arg583Gln	coding	Benign
2	218693283	A	C	A218693283C	STK36	NM_015690.5(STK36):c.2087A>C:p.Gln696Pro	coding	Benign
2	218694266	T	C	T218694266C	STK36	NM_015690.5(STK36):c.2339T>C:p.Met780Thr	coding	Benign
2	218694295	C	G	C218694295G	STK36	NM_015690.5(STK36):c.2368C>G:p.Leu790Val	coding	Benign
2	218696531	G	A	G218696531A	STK36	NM_015690.5(STK36):c.2516G>A:p.Arg839Gln	coding	Benign
2	218696533	T	G	T218696533G	STK36	NM_015690.5(STK36):c.2518T>G:p.Leu840Val	coding	Benign
2	218697128	C	T	C218697128T	STK36	NM_015690.5(STK36):c.2676C>T:p.Pro892=	coding	Benign
2	218697952	G	A	G218697952A	STK36	NM_015690.5(STK36):c.3008G>A:p.Gly1003Asp	coding	Benign
2	218699084	C	T	C218699084T	STK36	NM_015690.5(STK36):c.3540C>T:p.Ala1180=	coding	Benign
2	218737787	G	A	G218737787A	TTLL4	NM_014640.5(TTLL4):c.111G>A:p.Ser37=	coding	Benign
2	218737817	G	T	G218737817T	TTLL4	NM_014640.5(TTLL4):c.141G>T:p.Gln47His	coding	Benign
2	218748884	C	T	C218748884T	TTLL4	NM_014640.5(TTLL4):c.2550C>T:p.Ser850=	coding	Benign
2	218754293	G	A	G218754293A	TTLL4	NM_014640.5(TTLL4):c.3504G>A:p.Thr1168=	coding	Benign
2	218782425	G	A	G218782425A	CYP27A1	NM_000784.4(CYP27A1):c.243G>A:p.Leu81=	coding	Benign/Likely_benign
2	218809575	A	G	A218809575G	CYP27A1	NM_000784.4(CYP27A1):c.256-2A>G	noncoding	Pathogenic
2	218809576	G	T	G218809576T	CYP27A1	NM_000784.4(CYP27A1):c.256-1G>T	noncoding	Pathogenic/Likely_pathogenic
2	218809577	G	A	G218809577A	CYP27A1	NM_000784.4(CYP27A1):c.256G>A:p.Val86Met	coding	Benign/Likely_benign
2	218809700	C	T	C218809700T	CYP27A1	NM_000784.4(CYP27A1):c.379C>T:p.Arg127Trp	coding	Pathogenic/Likely_pathogenic
2	218809701	G	A	G218809701A	CYP27A1	NM_000784.4(CYP27A1):c.380G>A:p.Arg127Gln	coding	Pathogenic/Likely_pathogenic
2	218809720	G	A	G218809720A	CYP27A1	NM_000784.4(CYP27A1):c.399G>A:p.Trp133Ter	coding	Pathogenic
2	218809754	G	A	G218809754A	CYP27A1	NM_000784.4(CYP27A1):c.433G>A:p.Gly145Arg	coding	Pathogenic
2	218809755	G	A	G218809755A	CYP27A1	NM_000784.4(CYP27A1):c.434G>A:p.Gly145Glu	coding	Pathogenic
2	218809759	G	A	G218809759A	CYP27A1	NM_000784.4(CYP27A1):c.438G>A:p.Pro146=	coding	Benign
2	218809768	G	A	G218809768A	CYP27A1	NM_000784.4(CYP27A1):c.446+1G>A	coding	Pathogenic
2	218809768	G	T	G218809768T	CYP27A1	NM_000784.4(CYP27A1):c.446+1G>T	coding	Pathogenic
2	218812250	C	T	C218812250T	CYP27A1	NM_000784.4(CYP27A1):c.475C>T:p.Gln159Ter	coding	Pathogenic/Likely_pathogenic
2	218812281	C	T	C218812281T	CYP27A1	NM_000784.4(CYP27A1):c.506C>T:p.Ala169Val	coding	Benign/Likely_benign
2	218812299	C	T	C218812299T	CYP27A1	NM_000784.4(CYP27A1):c.524C>T:p.Thr175Met	coding	Benign/Likely_benign
2	218812337	C	T	C218812337T	CYP27A1	NM_000784.4(CYP27A1):c.562C>T:p.Arg188Ter	coding	Pathogenic
2	218812358	G	T	G218812358T	CYP27A1	NM_000784.4(CYP27A1):c.583G>T:p.Glu195Ter	coding	Pathogenic
2	218812421	G	C	G218812421C	CYP27A1	NM_000784.4(CYP27A1):c.646G>C:p.Ala216Pro	coding	Pathogenic/Likely_pathogenic
2	218812551	G	T	G218812551T	CYP27A1	NM_000784.4(CYP27A1):c.647-1G>T	noncoding	Pathogenic
2	218812578	C	T	C218812578T	CYP27A1	NM_000784.4(CYP27A1):c.673C>T:p.Arg225Cys	coding	Benign/Likely_benign
2	218812596	C	T	C218812596T	CYP27A1	NM_000784.4(CYP27A1):c.691C>T:p.Arg231Ter	coding	Pathogenic
2	218812657	C	A	C218812657A	CYP27A1	NM_000784.4(CYP27A1):c.752C>A:p.Ser251Ter	coding	Pathogenic
2	218812684	G	A	G218812684A	CYP27A1	NM_000784.4(CYP27A1):c.779G>A:p.Trp260Ter	coding	Pathogenic
2	218812713	C	T	C218812713T	CYP27A1	NM_000784.4(CYP27A1):c.808C>T:p.Arg270Ter	coding	Pathogenic
2	218812750	G	A	G218812750A	CYP27A1	NM_000784.4(CYP27A1):c.844+1G>A	coding	Pathogenic
2	218812923	G	A	G218812923A	CYP27A1	NM_000784.4(CYP27A1):c.845-1G>A	noncoding	Pathogenic
2	218812929	A	T	A218812929T	CYP27A1	NM_000784.4(CYP27A1):c.850A>T:p.Lys284Ter	coding	Pathogenic
2	218812931	G	A	G218812931A	CYP27A1	NM_000784.4(CYP27A1):c.852G>A:p.Lys284=	coding	Benign
2	218812965	C	T	C218812965T	CYP27A1	NM_000784.4(CYP27A1):c.886C>T:p.Gln296Ter	coding	Pathogenic
2	218812967	A	G	A218812967G	CYP27A1	NM_000784.4(CYP27A1):c.888A>G:p.Gln296=	coding	Benign
2	218813000	G	A	G218813000A	CYP27A1	NM_000784.4(CYP27A1):c.921G>A:p.Val307=	coding	Benign/Likely_benign
2	218813095	C	T	C218813095T	CYP27A1	NM_000784.4(CYP27A1):c.1016C>T:p.Thr339Met	coding	Pathogenic/Likely_pathogenic
2	218813096	G	C	G218813096C	CYP27A1	NM_000784.4(CYP27A1):c.1017G>C:p.Thr339=	coding	Pathogenic
2	218814064	A	G	A218814064G	CYP27A1	NM_000784.4(CYP27A1):c.1061A>G:p.Asp354Gly	coding	Pathogenic
2	218814075	C	T	C218814075T	CYP27A1	NM_000784.4(CYP27A1):c.1072C>T:p.Gln358Ter	coding	Pathogenic/Likely_pathogenic
2	218814107	G	A	G218814107A	CYP27A1	NM_000784.4(CYP27A1):c.1104G>A:p.Val368=	coding	Benign
2	218814186	C	T	C218814186T	CYP27A1	NM_000784.4(CYP27A1):c.1183C>T:p.Arg395Cys	coding	Pathogenic/Likely_pathogenic
2	218814188	G	A	G218814188A	CYP27A1	NM_000784.4(CYP27A1):c.1184+1G>A	coding	Pathogenic
2	218814378	A	G	A218814378G	CYP27A1	NM_000784.4(CYP27A1):c.1185-2A>G	noncoding	Pathogenic
2	218814379	G	A	G218814379A	CYP27A1	NM_000784.4(CYP27A1):c.1185-1G>A	noncoding	Pathogenic
2	218814379	G	T	G218814379T	CYP27A1	NM_000784.4(CYP27A1):c.1185-1G>T	noncoding	Pathogenic
2	218814397	C	G	C218814397G	CYP27A1	NM_000784.4(CYP27A1):c.1202C>G:p.Pro401Arg	coding	Pathogenic
2	218814408	C	T	C218814408T	CYP27A1	NM_000784.4(CYP27A1):c.1213C>T:p.Arg405Trp	coding	Pathogenic
2	218814409	G	A	G218814409A	CYP27A1	NM_000784.4(CYP27A1):c.1214G>A:p.Arg405Gln	coding	Pathogenic/Likely_pathogenic
2	218814417	G	T	G218814417T	CYP27A1	NM_000784.4(CYP27A1):c.1222G>T:p.Glu408Ter	coding	Pathogenic
2	218814433	T	A	T218814433A	CYP27A1	NM_000784.4(CYP27A1):c.1238T>A:p.Val413Asp	coding	Pathogenic
2	218814459	G	A	G218814459A	CYP27A1	NM_000784.4(CYP27A1):c.1263+1G>A	coding	Pathogenic
2	218814463	G	T	G218814463T	CYP27A1	NM_000784.4(CYP27A1):c.1263+5G>T	noncoding	Pathogenic
2	218814544	G	A	G218814544A	CYP27A1	NM_000784.4(CYP27A1):c.1264-1G>A	noncoding	Pathogenic
2	218814655	C	A	C218814655A	CYP27A1	NM_000784.4(CYP27A1):c.1374C>A:p.Pro458=	coding	Benign
2	218814662	C	T	C218814662T	CYP27A1	NM_000784.4(CYP27A1):c.1381C>T:p.Gln461Ter	coding	Pathogenic
2	218814683	C	T	C218814683T	CYP27A1	NM_000784.4(CYP27A1):c.1402C>T:p.Pro468Ser	coding	Pathogenic
2	218814696	G	C	G218814696C	CYP27A1	NM_000784.4(CYP27A1):c.1415G>C:p.Gly472Ala	coding	Pathogenic
2	218814701	C	T	C218814701T	CYP27A1	NM_000784.4(CYP27A1):c.1420C>T:p.Arg474Trp	coding	Pathogenic/Likely_pathogenic
2	218814702	G	A	G218814702A	CYP27A1	NM_000784.4(CYP27A1):c.1421G>A:p.Arg474Gln	coding	Pathogenic
2	218814909	A	C	A218814909C	CYP27A1	NM_000784.4(CYP27A1):c.1477-2A>C	noncoding	Pathogenic
2	218814939	C	A	C218814939A	CYP27A1	NM_000784.4(CYP27A1):c.1505C>A:p.Ala502Asp	coding	Benign/Likely_benign
2	218829993	G	A	G218829993A	PRKAG3	NM_017431.3(PRKAG3):c.618C>T:p.Phe206=	coding	Benign
2	218831762	G	A	G218831762A	PRKAG3	NM_017431.3(PRKAG3):c.9C>T:p.Pro3=	coding	Benign
2	218881022	G	A	G218881022A	WNT10A	NM_025216.3(WNT10A):c.27G>A:p.Trp9Ter	coding	Pathogenic
2	218881080	C	T	C218881080T	WNT10A	NM_025216.3(WNT10A):c.85C>T:p.Leu29=	coding	Benign
2	218882255	C	T	C218882255T	WNT10A	NM_025216.3(WNT10A):c.208C>T:p.Arg70Trp	coding	Benign/Likely_benign
2	218882281	C	T	C218882281T	WNT10A	NM_025216.3(WNT10A):c.234C>T:p.His78=	coding	Benign/Likely_benign
2	218882357	C	T	C218882357T	WNT10A	NM_025216.3(WNT10A):c.310C>T:p.Arg104Cys	coding	Pathogenic
2	218882368	C	A	C218882368A	WNT10A	NM_025216.3(WNT10A):c.321C>A:p.Cys107Ter	coding	Pathogenic
2	218889989	C	T	C218889989T	WNT10A	NM_025216.3(WNT10A):c.382C>T:p.Arg128Ter	coding	Pathogenic/Likely_pathogenic
2	218889990	G	A	G218889990A	WNT10A	NM_025216.3(WNT10A):c.383G>A:p.Arg128Gln	coding	Pathogenic/Likely_pathogenic
2	218889998	G	A	G218889998A	WNT10A	NM_025216.3(WNT10A):c.391G>A:p.Ala131Thr	coding	Pathogenic/Likely_pathogenic
2	218890141	A	G	A218890141G	WNT10A	NM_025216.3(WNT10A):c.534A>G:p.Gln178=	coding	Benign/Likely_benign
2	218890198	C	T	C218890198T	WNT10A	NM_025216.3(WNT10A):c.591C>T:p.Ala197=	coding	Benign
2	218890239	G	A	G218890239A	WNT10A	NM_025216.3(WNT10A):c.632G>A:p.Trp211Ter	coding	Pathogenic
2	218890257	A	G	A218890257G	WNT10A	NM_025216.3(WNT10A):c.650A>G:p.Asp217Gly	coding	Pathogenic
2	218890271	G	T	G218890271T	WNT10A	NM_025216.3(WNT10A):c.664G>T:p.Glu222Ter	coding	Pathogenic
2	218890304	G	T	G218890304T	WNT10A	NM_025216.3(WNT10A):c.697G>T:p.Glu233Ter	coding	Pathogenic
2	218890349	C	T	C218890349T	WNT10A	NM_025216.3(WNT10A):c.742C>T:p.Arg248Ter	coding	Pathogenic
2	218890364	G	A	G218890364A	WNT10A	NM_025216.3(WNT10A):c.756+1G>A	coding	Pathogenic
2	218892820	C	G	C218892820G	WNT10A	NM_025216.3(WNT10A):c.803C>G:p.Ser268Ter	coding	Pathogenic
2	218892831	C	T	C218892831T	WNT10A	NM_025216.3(WNT10A):c.814C>T:p.Gln272Ter	coding	Pathogenic
2	218892834	C	A	C218892834A	WNT10A	NM_025216.3(WNT10A):c.817C>A:p.Leu273Ile	coding	Benign
2	218892843	T	A	T218892843A	WNT10A	NM_025216.3(WNT10A):c.826T>A:p.Cys276Ser	coding	Pathogenic
2	218892847	G	A	G218892847A	WNT10A	NM_025216.3(WNT10A):c.830G>A:p.Trp277Ter	coding	Pathogenic
2	218893020	G	A	G218893020A	WNT10A	NM_025216.3(WNT10A):c.1003G>A:p.Asp335Asn	coding	Benign/Likely_benign
2	218893145	C	A	C218893145A	WNT10A	NM_025216.3(WNT10A):c.1128C>A:p.Cys376Ter	coding	Pathogenic
2	218893185	G	T	G218893185T	WNT10A	NM_025216.3(WNT10A):c.1168G>T:p.Glu390Ter	coding	Pathogenic/Likely_pathogenic
2	218893193	C	A	C218893193A	WNT10A	NM_025216.3(WNT10A):c.1176C>A:p.Cys392Ter	coding	Pathogenic
2	218893216	G	A	G218893216A	WNT10A	NM_025216.3(WNT10A):c.1199G>A:p.Cys400Tyr	coding	Pathogenic
2	218893702	C	T	C218893702T	WNT10A	NM_025216.3(WNT10A):c.*431C>T	noncoding	Benign/Likely_benign
2	218981970	C	A	C218981970A	FEV	NM_017521.3(FEV):c.414G>T:p.Pro138=	coding	Benign
2	219002940	C	T	C219002940T	CFAP65	NM_194302.4(CFAP65):c.5775G>A:p.Pro1925=	coding	Benign
2	219002997	C	T	C219002997T	CFAP65	NM_194302.4(CFAP65):c.5718G>A:p.Leu1906=	coding	Benign
2	219004065	G	A	G219004065A	CFAP65	NM_194302.4(CFAP65):c.5442C>T:p.Ile1814=	coding	Benign
2	219004166	C	A	C219004166A	CFAP65	NM_194302.4(CFAP65):c.5341G>T:p.Glu1781Ter	coding	Pathogenic
2	219005519	A	G	A219005519G	CFAP65	NM_194302.4(CFAP65):c.4966T>C:p.Ser1656Pro	coding	Benign
2	219009087	C	T	C219009087T	CFAP65	NM_194302.4(CFAP65):c.4634G>A:p.Arg1545Gln	coding	Benign
2	219009154	G	A	G219009154A	CFAP65	NM_194302.4(CFAP65):c.4567C>T:p.Leu1523=	coding	Benign
2	219013954	G	A	G219013954A	CFAP65	NM_194302.4(CFAP65):c.3693C>T:p.Arg1231=	coding	Benign
2	219019598	C	G	C219019598G	CFAP65	NM_194302.4(CFAP65):c.3381G>C:p.Leu1127=	coding	Benign
2	219022231	G	A	G219022231A	CFAP65	NM_194302.4(CFAP65):c.2919C>T:p.Pro973=	coding	Benign
2	219023352	C	T	C219023352T	CFAP65	NM_194302.4(CFAP65):c.2675G>A:p.Trp892Ter	coding	Pathogenic
2	219026087	G	A	G219026087A	CFAP65	NM_194302.4(CFAP65):c.2284C>T:p.Arg762Ter	coding	Pathogenic
2	219026092	C	T	C219026092T	CFAP65	NM_194302.4(CFAP65):c.2279G>A:p.Arg760Gln	coding	Benign
2	219027904	C	T	C219027904T	CFAP65	NM_194302.4(CFAP65):c.1957G>A:p.Val653Ile	coding	Benign
2	219054422	G	A	G219054422A	IHH	NM_002181.3(IHH):c.*785C>T	noncoding	Benign
2	219054959	G	T	G219054959T	IHH	NM_002181.4(IHH):c.*248C>A	noncoding	Benign
2	219055032	G	C	G219055032C	IHH	NM_002181.4(IHH):c.*175C>G	noncoding	Benign
2	219055124	T	A	T219055124A	IHH	NM_002181.4(IHH):c.*83A>T	noncoding	Benign
2	219055182	C	A	C219055182A	IHH	NM_002181.4(IHH):c.*25G>T	noncoding	Benign
2	219055194	C	T	C219055194T	IHH	NM_002181.4(IHH):c.*13G>A	noncoding	Benign
2	219055221	C	T	C219055221T	IHH	NM_002181.4(IHH):c.1222G>A:p.Gly408Arg	coding	Benign
2	219055313	G	A	G219055313A	IHH	NM_002181.4(IHH):c.1130C>T:p.Pro377Leu	coding	Benign
2	219055315	A	G	A219055315G	IHH	NM_002181.4(IHH):c.1128T>C:p.Thr376=	coding	Benign
2	219055474	G	A	G219055474A	IHH	NM_002181.4(IHH):c.969C>T:p.His323=	coding	Benign
2	219055534	G	A	G219055534A	IHH	NM_002181.4(IHH):c.909C>T:p.Tyr303=	coding	Benign
2	219055570	C	T	C219055570T	IHH	NM_002181.4(IHH):c.873G>A:p.Arg291=	coding	Benign/Likely_benign
2	219055585	C	T	C219055585T	IHH	NM_002181.4(IHH):c.858G>A:p.Pro286=	coding	Benign/Likely_benign
2	219055586	G	A	G219055586A	IHH	NM_002181.4(IHH):c.857C>T:p.Pro286Leu	coding	Benign
2	219055624	G	A	G219055624A	IHH	NM_002181.4(IHH):c.819C>T:p.Pro273=	coding	Benign
2	219055627	T	C	T219055627C	IHH	NM_002181.4(IHH):c.816A>G:p.Thr272=	coding	Benign
2	219055688	T	C	T219055688C	IHH	NM_002181.4(IHH):c.755A>G:p.His252Arg	coding	Benign
2	219055690	A	G	A219055690G	IHH	NM_002181.4(IHH):c.753T>C:p.Pro251=	coding	Benign
2	219055726	G	A	G219055726A	IHH	NM_002181.4(IHH):c.717C>T:p.Thr239=	coding	Benign
2	219055825	G	A	G219055825A	IHH	NM_002181.4(IHH):c.618C>T:p.Ala206=	coding	Benign
2	219055843	C	T	C219055843T	IHH	NM_002181.4(IHH):c.600G>A:p.Thr200=	coding	Benign
2	219055855	G	A	G219055855A	IHH	NM_002181.4(IHH):c.588C>T:p.Ala196=	coding	Benign
2	219057441	A	G	A219057441G	IHH	NM_002181.4(IHH):c.569T>C:p.Val190Ala	coding	Pathogenic
2	219057549	G	A	G219057549A	IHH	NM_002181.4(IHH):c.461C>T:p.Thr154Ile	coding	Pathogenic
2	219057619	C	T	C219057619T	IHH	NM_002181.4(IHH):c.391G>A:p.Glu131Lys	coding	Pathogenic
2	219057621	G	T	G219057621T	IHH	NM_002181.4(IHH):c.389C>A:p.Thr130Asn	coding	Pathogenic
2	219057627	C	T	C219057627T	IHH	NM_002181.4(IHH):c.383G>A:p.Arg128Gln	coding	Pathogenic
2	219060145	G	A	G219060145A	IHH	NM_002181.4(IHH):c.315+8C>T	noncoding	Benign
2	219060168	G	T	G219060168T	IHH	NM_002181.4(IHH):c.300C>A:p.Asp100Glu	coding	Pathogenic
2	219060170	C	T	C219060170T	IHH	NM_002181.4(IHH):c.298G>A:p.Asp100Asn	coding	Pathogenic
2	219060184	T	C	T219060184C	IHH	NM_002181.4(IHH):c.284A>G:p.Glu95Gly	coding	Pathogenic
2	219060185	C	T	C219060185T	IHH	NM_002181.4(IHH):c.283G>A:p.Glu95Lys	coding	Pathogenic
2	219060239	G	T	G219060239T	IHH	NM_002181.4(IHH):c.229C>A:p.Arg77Ser	coding	Benign
2	219060240	C	T	C219060240T	IHH	NM_002181.4(IHH):c.228G>A:p.Glu76=	coding	Benign
2	219060241	T	G	T219060241G	IHH	NM_002181.4(IHH):c.227A>C:p.Glu76Ala	coding	Benign
2	219060261	G	T	G219060261T	IHH	NM_002181.4(IHH):c.207C>A:p.Gly69=	coding	Benign/Likely_benign
2	219060331	G	A	G219060331A	IHH	NM_002181.4(IHH):c.137C>T:p.Pro46Leu	coding	Pathogenic
2	219077304	T	A	T219077304A	NHEJ1	NM_024782.2(NHEJ1):c.767A>T:p.Gln256Leu	coding	Benign
2	219077371	T	A	T219077371A	NHEJ1	NM_024782.2(NHEJ1):c.707-7A>T	noncoding	Benign/Likely_benign
2	219078082	G	T	G219078082T	NHEJ1	NM_024782.2(NHEJ1):c.706+7C>A	noncoding	Benign
2	219078152	G	A	G219078152A	NHEJ1	NM_024782.2(NHEJ1):c.643C>T:p.Gln215Ter	coding	Pathogenic
2	219146708	T	C	T219146708C	NHEJ1	NM_024782.2(NHEJ1):c.560A>G:p.Asn187Ser	coding	Benign
2	219146736	G	A	G219146736A	NHEJ1	NM_024782.2(NHEJ1):c.532C>T:p.Arg178Ter	coding	Pathogenic
2	219146740	T	A	T219146740A	NHEJ1	NM_024782.2(NHEJ1):c.530-2A>T	noncoding	Pathogenic
2	219147735	T	G	T219147735G	NHEJ1	NM_024782.2(NHEJ1):c.451A>C:p.Arg151=	coding	Benign
2	219157493	G	T	G219157493T	NHEJ1	NM_024782.3(NHEJ1):c.369C>A:p.Cys123Ter	coding	Pathogenic
2	219157495	A	G	A219157495G	NHEJ1	NM_024782.2(NHEJ1):c.367T>C:p.Cys123Arg	coding	Pathogenic
2	219158194	G	C	G219158194C	NHEJ1	NM_024782.2(NHEJ1):c.169C>G:p.Arg57Gly	coding	Pathogenic
2	219158323	C	T	C219158323T	NHEJ1	NM_024782.2(NHEJ1):c.40G>A:p.Ala14Thr	coding	Benign
2	219158327	T	C	T219158327C	NHEJ1	NM_024782.2(NHEJ1):c.36A>G:p.Pro12=	coding	Benign
2	219169529	C	G	C219169529G	SLC23A3	NM_001144889.2(SLC23A3):c.312G>C:p.Met104Ile	coding	Benign
2	219210036	G	C	G219210036C	ABCB6	NM_005689.4(ABCB6):c.2431C>G:p.Leu811Val	coding	Pathogenic
2	219210799	C	T	C219210799T	ABCB6	NM_005689.4(ABCB6):c.2168G>A:p.Arg723Gln	coding	Pathogenic
2	219213310	C	T	C219213310T	ABCB6	NM_005689.4(ABCB6):c.1736G>A:p.Gly579Glu	coding	Pathogenic
2	219213495	G	T	G219213495T	ABCB6	NM_005689.4(ABCB6):c.1663C>A:p.Gln555Lys	coding	Pathogenic
2	219214414	A	G	A219214414G	ABCB6	NM_005689.4(ABCB6):c.1361T>C:p.Val454Ala	coding	Benign
2	219216027	C	T	C219216027T	ABCB6	NM_005689.4(ABCB6):c.1124G>A:p.Arg375Gln	coding	Pathogenic
2	219216028	G	A	G219216028A	ABCB6	NM_005689.4(ABCB6):c.1123C>T:p.Arg375Trp	coding	Pathogenic
2	219216084	A	G	A219216084G	ABCB6	NM_005689.4(ABCB6):c.1067T>C:p.Leu356Pro	coding	Pathogenic
2	219216694	G	A	G219216694A	ABCB6	NM_005689.4(ABCB6):c.826C>T:p.Arg276Trp	coding	Benign
2	219216781	G	A	G219216781A	ABCB6	NM_005689.4(ABCB6):c.739C>T:p.Arg247Cys	coding	Benign
2	219216841	G	A	G219216841A	ABCB6	NM_005689.4(ABCB6):c.688-9C>T	noncoding	Benign
2	219218166	T	C	T219218166C	ABCB6	NM_005689.4(ABCB6):c.508A>G:p.Ser170Gly	coding	Pathogenic
2	219218505	C	T	C219218505T	ABCB6	NM_005689.4(ABCB6):c.169G>A:p.Ala57Thr	coding	Pathogenic
2	219224027	T	C	T219224027C	ATG9A	NM_001077198.3(ATG9A):c.1266-5A>G	noncoding	Benign
2	219225104	G	A	G219225104A	ATG9A	NM_001077198.3(ATG9A):c.483C>T:p.His161=	coding	Benign
2	219231956	A	C	A219231956C	ANKZF1	NM_018089.3(ANKZF1):c.177A>C:p.Arg59Ser	coding	Benign
2	219232564	G	A	G219232564A	ANKZF1	NM_018089.3(ANKZF1):c.439G>A:p.Glu147Lys	coding	Benign
2	219233429	A	G	A219233429G	ANKZF1	NM_018089.3(ANKZF1):c.815A>G:p.Tyr272Cys	coding	Benign
2	219234191	A	C	A219234191C	ANKZF1	NM_018089.3(ANKZF1):c.1107A>C:p.Val369=	coding	Benign
2	219234991	C	T	C219234991T	ANKZF1	NM_018089.3(ANKZF1):c.1370C>T:p.Thr457Ile	coding	Benign
2	219235490	C	T	C219235490T	ANKZF1	NM_018089.3(ANKZF1):c.1708C>T:p.Pro570Ser	coding	Benign
2	219235754	G	A	G219235754A	ANKZF1	NM_018089.3(ANKZF1):c.1850G>A:p.Arg617Gln	coding	Benign
2	219237136	T	C	T219237136C	GLB1L	NM_001286423.2(GLB1L):c.1901A>G:p.His634Arg	coding	Benign
2	219239841	A	T	A219239841T	GLB1L	NM_001286423.2(GLB1L):c.722-8T>A	noncoding	Benign
2	219250479	C	T	C219250479T	TUBA4A	NM_006000.3(TUBA4A):c.1220G>A:p.Trp407Ter	coding	Pathogenic
2	219250552	C	T	C219250552T	TUBA4A	NM_006000.3(TUBA4A):c.1147G>A:p.Ala383Thr	coding	Pathogenic
2	219250700	G	A	G219250700A	TUBA4A	NM_006000.3(TUBA4A):c.999C>T:p.Ala333=	coding	Benign
2	219250740	C	T	C219250740T	TUBA4A	NM_006000.3(TUBA4A):c.959G>A:p.Arg320His	coding	Pathogenic
2	219250741	G	A	G219250741A	TUBA4A	NM_006000.3(TUBA4A):c.958C>T:p.Arg320Cys	coding	Pathogenic
2	219250790	T	C	T219250790C	TUBA4A	NM_006000.3(TUBA4A):c.909A>G:p.Val303=	coding	Benign
2	219251056	G	A	G219251056A	TUBA4A	NM_006000.3(TUBA4A):c.643C>T:p.Arg215Cys	coding	Pathogenic
2	219251266	T	G	T219251266G	TUBA4A	NM_006000.3(TUBA4A):c.433A>C:p.Thr145Pro	coding	Pathogenic
2	219251616	A	G	A219251616G	TUBA4A	NM_006000.3(TUBA4A):c.324T>C:p.Tyr108=	coding	Benign
2	219279538	T	G	T219279538G	DNAJB2	NM_006736.6(DNAJB2):c.-37+20T>G	noncoding	Benign
2	219279688	G	C	G219279688C	DNAJB2	NM_006736.6(DNAJB2):c.-36-110G>C	noncoding	Benign
2	219280564	C	T	C219280564T	DNAJB2	NM_006736.6(DNAJB2):c.66-14C>T	noncoding	Benign
2	219281474	G	T	G219281474T	DNAJB2	NM_006736.6(DNAJB2):c.176-244G>T	noncoding	Benign
2	219281680	C	T	C219281680T	DNAJB2	NM_006736.6(DNAJB2):c.176-38C>T	noncoding	Benign
2	219281929	G	A	G219281929A	DNAJB2	NM_006736.6(DNAJB2):c.230-10G>A	noncoding	Benign
2	219282007	G	A	G219282007A	DNAJB2	NM_006736.6(DNAJB2):c.298G>A:p.Glu100Lys	coding	Benign/Likely_benign
2	219282052	G	T	G219282052T	DNAJB2	NM_001039550.2(DNAJB2):c.343G>T:p.Glu115Ter	coding	Pathogenic
2	219282062	G	A	G219282062A	DNAJB2	NM_006736.6(DNAJB2):c.352+1G>A	coding	Pathogenic
2	219282386	G	T	G219282386T	DNAJB2	NM_006736.6(DNAJB2):c.352+325G>T	noncoding	Benign
2	219282878	C	T	C219282878T	DNAJB2	NM_006736.6(DNAJB2):c.394C>T:p.Arg132Ter	coding	Pathogenic
2	219283010	C	T	C219283010T	DNAJB2	NM_006736.6(DNAJB2):c.445+81C>T	noncoding	Benign
2	219283045	C	T	C219283045T	DNAJB2	NM_006736.6(DNAJB2):c.446-88C>T	noncoding	Benign
2	219283125	G	A	G219283125A	DNAJB2	NM_006736.6(DNAJB2):c.446-8G>A	noncoding	Benign
2	219284631	G	A	G219284631A	DNAJB2	NM_006736.6(DNAJB2):c.620-1G>A	noncoding	Pathogenic
2	219284820	G	C	G219284820C	DNAJB2	NM_006736.6(DNAJB2):c.808G>C:p.Gly270Arg	coding	Benign
2	219301715	C	T	C219301715T	PTPRN	NM_002846.4(PTPRN):c.999G>A:p.Ala333=	coding	Benign
2	219307517	G	A	G219307517A	PTPRN	NM_002846.4(PTPRN):c.207C>T:p.Ala69=	coding	Benign
2	219382145	G	A	G219382145A	DNPEP	NM_012100.4(DNPEP):c.937-6C>T	noncoding	Benign
2	219386047	T	C	T219386047C	DNPEP	NM_012100.4(DNPEP):c.511A>G:p.Ile171Val	coding	Benign
2	219418233	C	T	C219418233T	DES	NC_000002.12:g.219418233C>T	noncoding	Benign
2	219418419	G	A	G219418419A	DES	NM_001927.4(DES):c.-44G>A	noncoding	Benign/Likely_benign
2	219418469	C	T	C219418469T	DES	NM_001927.4(DES):c.7C>T:p.Gln3Ter	coding	Pathogenic
2	219418497	C	T	C219418497T	DES	NM_001927.4(DES):c.35C>T:p.Ser12Phe	coding	Pathogenic/Likely_pathogenic
2	219418500	C	T	C219418500T	DES	NM_001927.4(DES):c.38C>T:p.Ser13Phe	coding	Pathogenic
2	219418508	C	T	C219418508T	DES	NM_001927.4(DES):c.46C>T:p.Arg16Cys	coding	Pathogenic
2	219418537	A	G	A219418537G	DES	NM_001927.4(DES):c.75A>G:p.Pro25=	coding	Benign
2	219418555	T	C	T219418555C	DES	NM_001927.4(DES):c.93T>C:p.Ser31=	coding	Benign
2	219418561	C	T	C219418561T	DES	NM_001927.4(DES):c.99C>T:p.Pro33=	coding	Benign/Likely_benign
2	219418576	G	A	G219418576A	DES	NM_001927.4(DES):c.114G>A:p.Ala38=	coding	Benign
2	219418705	C	T	C219418705T	DES	NM_001927.4(DES):c.243C>T:p.Ser81=	coding	Benign/Likely_benign
2	219418784	G	T	G219418784T	DES	NM_001927.4(DES):c.322G>T:p.Glu108Ter	coding	Pathogenic
2	219418786	G	A	G219418786A	DES	NM_001927.4(DES):c.324G>A:p.Glu108=	coding	Benign/Likely_benign
2	219418820	G	C	G219418820C	DES	NM_001927.4(DES):c.358G>C:p.Ala120Pro	coding	Pathogenic
2	219418834	G	A	G219418834A	DES	NM_001927.4(DES):c.372G>A:p.Glu124=	coding	Benign/Likely_benign
2	219418835	A	T	A219418835T	DES	NM_001927.4(DES):c.373A>T:p.Lys125Ter	coding	Pathogenic
2	219418856	C	T	C219418856T	DES	NM_001927.4(DES):c.394C>T:p.Gln132Ter	coding	Pathogenic
2	219418870	C	T	C219418870T	DES	NM_001927.4(DES):c.408C>T:p.Leu136=	coding	Benign/Likely_benign
2	219418976	C	T	C219418976T	DES	NM_001927.4(DES):c.514C>T:p.Gln172Ter	coding	Pathogenic
2	219419051	G	A	G219419051A	DES	NM_001927.4(DES):c.578+11G>A	noncoding	Benign
2	219420057	C	T	C219420057T	DES	NM_001927.4(DES):c.579-38C>T	noncoding	Benign
2	219420150	C	T	C219420150T	DES	NM_001927.4(DES):c.634C>T:p.Arg212Ter	coding	Pathogenic
2	219420235	G	A	G219420235A	DES	NM_001927.4(DES):c.640-16G>A	noncoding	Benign
2	219420280	T	C	T219420280C	DES	NM_001927.4(DES):c.669T>C:p.Ile223=	coding	Benign/Likely_benign
2	219420346	G	A	G219420346A	DES	NM_001927.4(DES):c.735G>A:p.Glu245=	coding	Pathogenic/Likely_pathogenic
2	219420346	G	C	G219420346C	DES	NM_001927.4(DES):c.735G>C:p.Glu245Asp	coding	Pathogenic
2	219420347	G	A	G219420347A	DES	NM_001927.4(DES):c.735+1G>A	coding	Pathogenic/Likely_pathogenic
2	219420349	A	G	A219420349G	DES	NM_001927.4(DES):c.735+3A>G	noncoding	Pathogenic
2	219420366	C	T	C219420366T	DES	NM_001927.4(DES):c.735+20C>T	noncoding	Benign
2	219420460	C	A	C219420460A	DES	NM_001927.4(DES):c.736-35C>A	noncoding	Benign/Likely_benign
2	219420551	C	T	C219420551T	DES	NM_001927.4(DES):c.792C>T:p.Asp264=	coding	Benign/Likely_benign
2	219420587	C	T	C219420587T	DES	NM_001927.4(DES):c.828C>T:p.Asp276=	coding	Benign
2	219420672	C	T	C219420672T	DES	NM_001927.4(DES):c.897+16C>T	noncoding	Benign
2	219420842	C	T	C219420842T	DES	NM_001927.4(DES):c.912C>T:p.Thr304=	coding	Benign/Likely_benign
2	219420939	G	C	G219420939C	DES	NM_001927.4(DES):c.1009G>C:p.Ala337Pro	coding	Pathogenic
2	219420943	T	G	T219420943G	DES	NM_001927.4(DES):c.1013T>G:p.Leu338Arg	coding	Pathogenic/Likely_pathogenic
2	219420944	G	C	G219420944C	DES	NM_001927.4(DES):c.1014G>C:p.Leu338=	coding	Benign
2	219421340	A	G	A219421340G	DES	NM_001927.4(DES):c.1024A>G:p.Asn342Asp	coding	Pathogenic
2	219421342	C	T	C219421342T	DES	NM_001927.4(DES):c.1026C>T:p.Asn342=	coding	Benign/Likely_benign
2	219421350	T	C	T219421350C	DES	NM_001927.4(DES):c.1034T>C:p.Leu345Pro	coding	Pathogenic
2	219421359	A	C	A219421359C	DES	NM_001927.4(DES):c.1043A>C:p.Gln348Pro	coding	Pathogenic
2	219421365	G	C	G219421365C	DES	NM_001927.4(DES):c.1049G>C:p.Arg350Pro	coding	Pathogenic
2	219421385	G	C	G219421385C	DES	NM_001927.4(DES):c.1069G>C:p.Ala357Pro	coding	Pathogenic
2	219421394	G	C	G219421394C	DES	NM_001927.4(DES):c.1078G>C:p.Ala360Pro	coding	Pathogenic
2	219421420	G	A	G219421420A	DES	NM_001927.4(DES):c.1104G>A:p.Ala368=	coding	Benign
2	219421425	T	C	T219421425C	DES	NM_001927.4(DES):c.1109T>C:p.Leu370Pro	coding	Pathogenic
2	219421470	T	C	T219421470C	DES	NM_001927.4(DES):c.1154T>C:p.Leu385Pro	coding	Pathogenic
2	219421482	A	C	A219421482C	DES	NM_001927.4(DES):c.1166A>C:p.Gln389Pro	coding	Pathogenic
2	219421494	A	T	A219421494T	DES	NM_001927.4(DES):c.1178A>T:p.Asn393Ile	coding	Pathogenic
2	219421532	C	T	C219421532T	DES	NM_001927.4(DES):c.1216C>T:p.Arg406Trp	coding	Pathogenic/Likely_pathogenic
2	219421553	G	A	G219421553A	DES	NM_001927.4(DES):c.1237G>A:p.Glu413Lys	coding	Pathogenic/Likely_pathogenic
2	219421553	G	T	G219421553T	DES	NM_001927.4(DES):c.1237G>T:p.Glu413Ter	coding	Pathogenic
2	219421824	G	A	G219421824A	DES	NM_001927.4(DES):c.1244+264G>A	noncoding	Benign
2	219423787	C	T	C219423787T	DES	NM_001927.4(DES):c.1255C>T:p.Pro419Ser	coding	Pathogenic/Likely_pathogenic
2	219423817	C	T	C219423817T	DES	NM_001927.4(DES):c.1285C>T:p.Arg429Ter	coding	Pathogenic/Likely_pathogenic
2	219425399	C	T	C219425399T	DES	NM_001927.4(DES):c.1289-264C>T	noncoding	Benign
2	219425661	A	G	A219425661G	DES	NM_001927.4(DES):c.1289-2A>G	noncoding	Pathogenic
2	219425699	C	T	C219425699T	DES	NM_001927.4(DES):c.1325C>T:p.Thr442Ile	coding	Pathogenic
2	219425734	C	T	C219425734T	DES	NM_001927.4(DES):c.1360C>T:p.Arg454Trp	coding	Pathogenic/Likely_pathogenic
2	219425746	G	C	G219425746C	DES	NM_001927.4(DES):c.1371+1G>C	coding	Pathogenic
2	219425952	G	A	G219425952A	DES	NM_001927.4(DES):c.1375G>A:p.Val459Ile	coding	Benign/Likely_benign
2	219426458	G	T	G219426458T	DES	NM_001927.4(DES):c.*468G>T	noncoding	Benign/Likely_benign
2	219426465	T	G	T219426465G	DES	NM_001927.4(DES):c.*475T>G	noncoding	Benign/Likely_benign
2	219426652	G	A	G219426652A	DES	NM_001927.4(DES):c.*662G>A	noncoding	Benign/Likely_benign
2	219426752	T	C	T219426752C	DES	NM_001927.3(DES):c.*762T>C	noncoding	Benign
2	219435130	C	T	C219435130T	SPEG	NM_005876.5(SPEG):c.153C>T:p.Asn51=	coding	Benign
2	219444966	G	A	G219444966A	SPEG	NM_005876.5(SPEG):c.620G>A:p.Arg207His	coding	Benign
2	219445170	C	T	C219445170T	SPEG	NM_005876.5(SPEG):c.815+9C>T	noncoding	Benign
2	219448142	C	T	C219448142T	SPEG	NM_005876.5(SPEG):c.984C>T:p.Pro328=	coding	Benign
2	219448648	A	T	A219448648T	SPEG	NM_005876.5(SPEG):c.1490A>T:p.Glu497Val	coding	Benign
2	219448958	G	C	G219448958C	SPEG	NM_005876.5(SPEG):c.1800G>C:p.Arg600=	coding	Benign
2	219449045	G	A	G219449045A	SPEG	NM_005876.5(SPEG):c.1887G>A:p.Arg629=	coding	Benign
2	219451271	C	T	C219451271T	SPEG	NM_005876.5(SPEG):c.2249C>T:p.Pro750Leu	coding	Benign
2	219451272	G	A	G219451272A	SPEG	NM_005876.5(SPEG):c.2250G>A:p.Pro750=	coding	Benign
2	219462396	C	T	C219462396T	SPEG	NM_005876.5(SPEG):c.2705+10C>T	noncoding	Benign
2	219464586	C	T	C219464586T	SPEG	NM_005876.5(SPEG):c.2859C>T:p.Cys953=	coding	Benign
2	219467235	C	T	C219467235T	SPEG	NM_005876.5(SPEG):c.2943C>T:p.Ala981=	coding	Benign
2	219467296	C	T	C219467296T	SPEG	NM_005876.5(SPEG):c.3004C>T:p.Leu1002=	coding	Benign
2	219467334	A	G	A219467334G	SPEG	NM_005876.5(SPEG):c.3042A>G:p.Lys1014=	coding	Benign
2	219467352	T	C	T219467352C	SPEG	NM_005876.5(SPEG):c.3060T>C:p.Asp1020=	coding	Benign
2	219468599	G	A	G219468599A	SPEG	NM_005876.5(SPEG):c.3164G>A:p.Arg1055Gln	coding	Benign
2	219468740	C	T	C219468740T	SPEG	NM_005876.5(SPEG):c.3301+4C>T	noncoding	Benign
2	219468865	C	T	C219468865T	SPEG	NM_005876.5(SPEG):c.3308C>T:p.Pro1103Leu	coding	Benign
2	219468920	G	A	G219468920A	SPEG	NM_005876.5(SPEG):c.3363G>A:p.Leu1121=	coding	Benign
2	219472968	G	A	G219472968A	SPEG	NM_005876.5(SPEG):c.4019G>A:p.Arg1340Gln	coding	Benign
2	219473732	C	T	C219473732T	SPEG	NM_005876.5(SPEG):c.4276C>T:p.Arg1426Ter	coding	Pathogenic
2	219473838	C	T	C219473838T	SPEG	NM_005876.5(SPEG):c.4382C>T:p.Ala1461Val	coding	Benign
2	219473875	G	C	G219473875C	SPEG	NM_005876.5(SPEG):c.4419G>C:p.Gln1473His	coding	Benign
2	219477282	G	A	G219477282A	SPEG	NM_005876.5(SPEG):c.4566G>A:p.Glu1522=	coding	Benign
2	219477404	C	T	C219477404T	SPEG	NM_005876.5(SPEG):c.4688C>T:p.Ala1563Val	coding	Benign
2	219478006	G	T	G219478006T	SPEG	NM_005876.5(SPEG):c.4928G>T:p.Arg1643Leu	coding	Benign
2	219479994	G	A	G219479994A	SPEG	NM_005876.5(SPEG):c.5196G>A:p.Ala1732=	coding	Benign
2	219480040	C	T	C219480040T	SPEG	NM_005876.5(SPEG):c.5242C>T:p.Leu1748=	coding	Benign
2	219483214	G	A	G219483214A	SPEG	NM_005876.5(SPEG):c.5751G>A:p.Gly1917=	coding	Benign
2	219483871	G	C	G219483871C	SPEG	NM_005876.5(SPEG):c.6408G>C:p.Ala2136=	coding	Benign
2	219484029	C	T	C219484029T	SPEG	NM_005876.5(SPEG):c.6566C>T:p.Pro2189Leu	coding	Benign
2	219484155	C	A	C219484155A	SPEG	NM_005876.5(SPEG):c.6692C>A:p.Pro2231His	coding	Benign
2	219484158	C	A	C219484158A	SPEG	NM_005876.5(SPEG):c.6695C>A:p.Pro2232His	coding	Benign
2	219484160	C	T	C219484160T	SPEG	NM_005876.5(SPEG):c.6697C>T:p.Gln2233Ter	coding	Pathogenic
2	219484245	C	T	C219484245T	SPEG	NM_005876.5(SPEG):c.6782C>T:p.Pro2261Leu	coding	Benign
2	219484633	C	T	C219484633T	SPEG	NM_005876.5(SPEG):c.7170C>T:p.Arg2390=	coding	Benign
2	219484663	C	A	C219484663A	SPEG	NM_005876.5(SPEG):c.7200C>A:p.Val2400=	coding	Benign
2	219484878	G	A	G219484878A	SPEG	NM_005876.5(SPEG):c.7415G>A:p.Gly2472Asp	coding	Benign
2	219489174	G	T	G219489174T	SPEG	NM_005876.5(SPEG):c.8270G>T:p.Gly2757Val	coding	Pathogenic
2	219489454	C	T	C219489454T	SPEG	NM_005876.5(SPEG):c.8436C>T:p.Pro2812=	coding	Benign
2	219489520	G	A	G219489520A	SPEG	NM_005876.5(SPEG):c.8502G>A:p.Ser2834=	coding	Benign
2	219489553	T	C	T219489553C	SPEG	NM_005876.5(SPEG):c.8535T>C:p.Pro2845=	coding	Benign
2	219489637	G	A	G219489637A	SPEG	NM_005876.5(SPEG):c.8619G>A:p.Lys2873=	coding	Benign
2	219489669	C	T	C219489669T	SPEG	NM_005876.5(SPEG):c.8651C>T:p.Pro2884Leu	coding	Benign
2	219489713	C	T	C219489713T	SPEG	NM_005876.5(SPEG):c.8695C>T:p.Pro2899Ser	coding	Benign
2	219490400	G	A	G219490400A	SPEG	NM_005876.5(SPEG):c.8922-9G>A	noncoding	Benign
2	219490807	A	G	A219490807G	SPEG	NM_005876.5(SPEG):c.9236A>G:p.His3079Arg	coding	Benign
2	219492155	C	T	C219492155T	SPEG	NM_005876.5(SPEG):c.9506C>T:p.Thr3169Met	coding	Benign
2	219500030	G	A	G219500030A	GMPPA	NM_013335.4(GMPPA):c.40+15G>A	noncoding	Benign/Likely_benign
2	219501527	C	T	C219501527T	GMPPA	NM_013335.4(GMPPA):c.190C>T:p.Pro64Ser	coding	Benign/Likely_benign
2	219501550	C	T	C219501550T	GMPPA	NM_013335.4(GMPPA):c.213C>T:p.Ala71=	coding	Benign
2	219501903	C	T	C219501903T	GMPPA	NM_013335.4(GMPPA):c.295C>T:p.Arg99Ter	coding	Pathogenic
2	219501974	C	G	C219501974G	GMPPA	NM_013335.4(GMPPA):c.366C>G:p.Pro122=	coding	Benign/Likely_benign
2	219502393	G	A	G219502393A	GMPPA	NM_013335.4(GMPPA):c.441G>A:p.Thr147=	coding	Benign
2	219504088	G	A	G219504088A	GMPPA	NM_013335.4(GMPPA):c.495G>A:p.Leu165=	coding	Benign
2	219504138	G	A	G219504138A	GMPPA	NM_013335.4(GMPPA):c.545G>A:p.Gly182Asp	coding	Pathogenic
2	219505470	C	T	C219505470T	GMPPA	NM_013335.4(GMPPA):c.768C>T:p.Tyr256=	coding	Benign/Likely_benign
2	219505556	G	A	G219505556A	GMPPA	NM_013335.4(GMPPA):c.853+1G>A	coding	Pathogenic
2	219506024	G	A	G219506024A	GMPPA	NM_013335.4(GMPPA):c.945G>A:p.Glu315=	coding	Benign
2	219506260	A	C	A219506260C	GMPPA	NM_013335.4(GMPPA):c.1000A>C:p.Thr334Pro	coding	Pathogenic
2	219506313	C	G	C219506313G	GMPPA	NM_013335.4(GMPPA):c.1053C>G:p.Ala351=	coding	Benign
2	219506440	C	T	C219506440T	GMPPA	NM_013335.4(GMPPA):c.1162+18C>T	noncoding	Benign
2	219515063	G	A	G219515063A	ASIC4	NM_182847.2(ASIC4):c.720G>A:p.Pro240=	coding	Benign
2	219515105	A	G	A219515105G	ASIC4	NM_182847.2(ASIC4):c.762A>G:p.Ala254=	coding	Benign
2	219532351	G	A	G219532351A	ASIC4	NM_182847.2(ASIC4):c.1273G>A:p.Ala425Thr	coding	Benign
2	219537655	G	T	G219537655T	ASIC4	NM_182847.2(ASIC4):c.1749G>T:p.Arg583=	coding	Benign
2	219539614	C	T	C219539614T	CHPF	NM_024536.6(CHPF):c.2097G>A:p.Glu699=	coding	Benign
2	219543397	A	G	A219543397G	CHPF	NM_024536.6(CHPF):c.142T>C:p.Ser48Pro	coding	Benign
2	219551536	C	T	C219551536T	OBSL1	NM_015311.3(OBSL1):c.5676G>A:p.Leu1892=	coding	Benign/Likely_benign
2	219552220	G	C	G219552220C	OBSL1	NM_015311.3(OBSL1):c.5309-4C>G	noncoding	Benign
2	219552544	C	T	C219552544T	OBSL1	NM_015311.3(OBSL1):c.5300G>A:p.Arg1767Gln	coding	Benign
2	219552564	G	A	G219552564A	OBSL1	NM_015311.3(OBSL1):c.5280C>T:p.Pro1760=	coding	Benign
2	219552642	G	T	G219552642T	OBSL1	NM_015311.3(OBSL1):c.5202C>A:p.Asp1734Glu	coding	Benign
2	219554480	C	G	C219554480G	OBSL1	NM_015311.3(OBSL1):c.4870G>C:p.Val1624Leu	coding	Benign
2	219554514	T	C	T219554514C	OBSL1	NM_015311.3(OBSL1):c.4836A>G:p.Thr1612=	coding	Benign
2	219554617	T	C	T219554617C	OBSL1	NM_015311.3(OBSL1):c.4733A>G:p.Gln1578Arg	coding	Benign
2	219556063	G	A	G219556063A	OBSL1	NM_015311.3(OBSL1):c.4566C>T:p.Cys1522=	coding	Benign
2	219556234	A	G	A219556234G	OBSL1	NM_015311.3(OBSL1):c.4395T>C:p.Asp1465=	coding	Benign
2	219556266	A	G	A219556266G	OBSL1	NM_015311.3(OBSL1):c.4363T>C:p.Leu1455=	coding	Benign
2	219556268	C	T	C219556268T	OBSL1	NM_015311.3(OBSL1):c.4361G>A:p.Arg1454Gln	coding	Benign
2	219556598	C	T	C219556598T	OBSL1	NM_015311.3(OBSL1):c.4192G>A:p.Val1398Ile	coding	Benign
2	219556673	C	T	C219556673T	OBSL1	NM_015311.3(OBSL1):c.4117G>A:p.Glu1373Lys	coding	Benign
2	219556695	C	G	C219556695G	OBSL1	NM_015311.3(OBSL1):c.4095G>C:p.Glu1365Asp	coding	Benign
2	219556734	C	A	C219556734A	OBSL1	NM_015311.3(OBSL1):c.4067-11G>T	noncoding	Benign
2	219556735	G	A	G219556735A	OBSL1	NM_015311.3(OBSL1):c.4067-12C>T	noncoding	Benign
2	219557377	G	C	G219557377C	OBSL1	NM_015311.3(OBSL1):c.4032C>G:p.Pro1344=	coding	Benign
2	219557404	G	A	G219557404A	OBSL1	NM_015311.3(OBSL1):c.4005C>T:p.Asp1335=	coding	Benign/Likely_benign
2	219557454	G	A	G219557454A	OBSL1	NM_015311.3(OBSL1):c.3955C>T:p.Gln1319Ter	coding	Pathogenic
2	219557459	A	T	A219557459T	OBSL1	NM_015311.3(OBSL1):c.3950T>A:p.Leu1317Gln	coding	Benign/Likely_benign
2	219557860	G	A	G219557860A	OBSL1	NM_015311.3(OBSL1):c.3753C>T:p.Pro1251=	coding	Benign
2	219557861	G	A	G219557861A	OBSL1	NM_015311.3(OBSL1):c.3752C>T:p.Pro1251Leu	coding	Benign
2	219557964	C	T	C219557964T	OBSL1	NM_015311.3(OBSL1):c.3649G>A:p.Glu1217Lys	coding	Benign/Likely_benign
2	219558009	C	T	C219558009T	OBSL1	NM_015311.3(OBSL1):c.3604G>A:p.Ala1202Thr	coding	Benign
2	219558052	A	G	A219558052G	OBSL1	NM_015311.3(OBSL1):c.3561T>C:p.Pro1187=	coding	Benign
2	219558287	C	T	C219558287T	OBSL1	NM_015311.3(OBSL1):c.3399G>A:p.Gly1133=	coding	Benign
2	219558296	A	G	A219558296G	OBSL1	NM_015311.3(OBSL1):c.3390T>C:p.Gly1130=	coding	Benign
2	219558403	C	T	C219558403T	OBSL1	NM_015311.3(OBSL1):c.3283G>A:p.Ala1095Thr	coding	Benign
2	219559292	G	A	G219559292A	OBSL1	NM_015311.3(OBSL1):c.3159C>T:p.Pro1053=	coding	Benign/Likely_benign
2	219559448	G	A	G219559448A	OBSL1	NM_015311.3(OBSL1):c.3003C>T:p.Ala1001=	coding	Benign
2	219559470	C	T	C219559470T	OBSL1	NM_015311.3(OBSL1):c.2981G>A:p.Arg994His	coding	Benign
2	219562532	G	A	G219562532A	OBSL1	NM_015311.3(OBSL1):c.2823C>T:p.Ser941=	coding	Benign
2	219562625	G	T	G219562625T	OBSL1	NM_015311.3(OBSL1):c.2730C>A:p.Ala910=	coding	Benign
2	219562673	G	A	G219562673A	OBSL1	NM_015311.3(OBSL1):c.2682C>T:p.Asp894=	coding	Benign
2	219563457	G	A	G219563457A	OBSL1	NM_015311.3(OBSL1):c.2578C>T:p.Pro860Ser	coding	Benign
2	219563458	C	A	C219563458A	OBSL1	NM_015311.3(OBSL1):c.2577G>T:p.Gly859=	coding	Benign
2	219563635	G	A	G219563635A	OBSL1	NM_015311.3(OBSL1):c.2408-8C>T	noncoding	Benign
2	219565411	C	T	C219565411T	OBSL1	NM_015311.3(OBSL1):c.2238G>A:p.Pro746=	coding	Benign/Likely_benign
2	219565459	G	C	G219565459C	OBSL1	NM_015311.3(OBSL1):c.2190C>G:p.Thr730=	coding	Benign
2	219565481	C	T	C219565481T	OBSL1	NM_015311.3(OBSL1):c.2168G>A:p.Arg723Lys	coding	Benign
2	219566909	G	T	G219566909T	OBSL1	NM_015311.3(OBSL1):c.2055C>A:p.Ala685=	coding	Benign
2	219566932	G	A	G219566932A	OBSL1	NM_015311.3(OBSL1):c.2032C>T:p.Gln678Ter	coding	Pathogenic
2	219566965	C	T	C219566965T	OBSL1	NM_015311.3(OBSL1):c.1999G>A:p.Ala667Thr	coding	Benign
2	219567080	G	A	G219567080A	OBSL1	NM_015311.3(OBSL1):c.1884C>T:p.Tyr628=	coding	Benign
2	219567292	G	A	G219567292A	OBSL1	NM_015311.3(OBSL1):c.1818C>T:p.Phe606=	coding	Benign
2	219567376	C	T	C219567376T	OBSL1	NM_015311.3(OBSL1):c.1734G>A:p.Pro578=	coding	Benign/Likely_benign
2	219567740	G	A	G219567740A	OBSL1	NM_015311.3(OBSL1):c.1512C>T:p.Thr504=	coding	Benign
2	219567787	G	A	G219567787A	OBSL1	NM_015311.3(OBSL1):c.1465C>T:p.Arg489Ter	coding	Pathogenic
2	219568092	C	T	C219568092T	OBSL1	NM_015311.3(OBSL1):c.1245G>A:p.Arg415=	coding	Benign
2	219568188	G	T	G219568188T	OBSL1	NM_015311.3(OBSL1):c.1149C>A:p.Cys383Ter	coding	Pathogenic
2	219568235	G	A	G219568235A	OBSL1	NM_015311.3(OBSL1):c.1102C>T:p.Arg368Cys	coding	Benign
2	219570312	A	G	A219570312G	OBSL1	NM_015311.3(OBSL1):c.921T>C:p.Leu307=	coding	Benign
2	219570330	G	A	G219570330A	OBSL1	NM_015311.3(OBSL1):c.903C>T:p.Gly301=	coding	Benign
2	219570382	C	T	C219570382T	OBSL1	NM_015311.3(OBSL1):c.851G>A:p.Arg284His	coding	Benign/Likely_benign
2	219570482	C	A	C219570482A	OBSL1	NM_015311.3(OBSL1):c.751G>T:p.Ala251Ser	coding	Benign
2	219570504	C	T	C219570504T	OBSL1	NM_015311.3(OBSL1):c.729G>A:p.Pro243=	coding	Benign/Likely_benign
2	219570633	C	T	C219570633T	OBSL1	NM_015311.3(OBSL1):c.600G>A:p.Arg200=	coding	Benign
2	219570653	G	A	G219570653A	OBSL1	NM_015311.3(OBSL1):c.580C>T:p.Leu194=	coding	Benign
2	219570810	C	T	C219570810T	OBSL1	NM_015311.3(OBSL1):c.423G>A:p.Arg141=	coding	Benign/Likely_benign
2	219571114	G	C	G219571114C	OBSL1	NM_015311.3(OBSL1):c.119C>G:p.Pro40Arg	coding	Benign
2	219571137	C	T	C219571137T	OBSL1	NM_015311.3(OBSL1):c.96G>A:p.Lys32=	coding	Benign
2	219571274	A	G	A219571274G	OBSL1	NM_015311.3(OBSL1):c.-42T>C	noncoding	Benign
2	219571440	C	G	C219571440G	OBSL1	NM_015311.3(OBSL1):c.-208G>C	noncoding	Benign
2	219572503	C	T	C219572503T	INHA	NM_002191.4(INHA):c.129C>T:p.Pro43=	coding	Benign
2	219572569	G	T	G219572569T	INHA	NM_002191.4(INHA):c.195G>T:p.Gly65=	coding	Benign
2	219574752	C	T	C219574752T	INHA	NM_002191.4(INHA):c.327C>T:p.Gly109=	coding	Benign
2	219575194	G	A	G219575194A	INHA	NM_002191.4(INHA):c.769G>A:p.Ala257Thr	coding	Benign/Likely_benign
2	219628514	C	T	C219628514T	SLC4A3	NM_005070.4(SLC4A3):c.161C>T:p.Pro54Leu	coding	Benign
2	219632980	C	T	C219632980T	SLC4A3	NM_005070.4(SLC4A3):c.1248C>T:p.Ser416=	coding	Benign
2	219636333	C	T	C219636333T	SLC4A3	NM_005070.4(SLC4A3):c.2223C>T:p.Ser741=	coding	Benign
2	219636360	C	T	C219636360T	SLC4A3	NM_005070.4(SLC4A3):c.2250C>T:p.Leu750=	coding	Benign
2	219637644	G	C	G219637644C	SLC4A3	NM_005070.4(SLC4A3):c.2599G>C:p.Asp867His	coding	Benign
2	219637685	C	T	C219637685T	SLC4A3	NM_005070.4(SLC4A3):c.2640C>T:p.Thr880=	coding	Benign
2	221426097	C	T	C221426097T	EPHA4	NM_004438.5(EPHA4):c.2892G>A:p.Lys964=	coding	Benign
2	221426613	G	C	G221426613C	EPHA4	NM_004438.5(EPHA4):c.2697C>G:p.Asn899Lys	coding	Benign
2	221434262	C	T	C221434262T	EPHA4	NM_004438.5(EPHA4):c.2376G>A:p.Ala792=	coding	Benign
2	221456620	G	A	G221456620A	EPHA4	NM_004438.5(EPHA4):c.1596C>T:p.Thr532=	coding	Benign
2	221457953	G	A	G221457953A	EPHA4	NM_004438.5(EPHA4):c.1356C>T:p.Val452=	coding	Benign
2	221482470	G	T	G221482470T	EPHA4	NM_004438.5(EPHA4):c.1200C>A:p.Ile400=	coding	Benign
2	221482650	G	A	G221482650A	EPHA4	NM_004438.5(EPHA4):c.1020C>T:p.Asn340=	coding	Benign
2	221563735	G	A	G221563735A	EPHA4	NM_004438.5(EPHA4):c.819C>T:p.Cys273=	coding	Benign
2	221563966	T	C	T221563966C	EPHA4	NM_004438.5(EPHA4):c.588A>G:p.Ser196=	coding	Benign
2	222201724	G	A	G222201724A	PAX3	NM_181458.4(PAX3):c.1420+220C>T	coding	Benign
2	222201758	C	T	C222201758T	PAX3	NM_181458.4(PAX3):c.1420+186G>A	coding	Benign
2	222201840	C	T	C222201840T	PAX3	NM_181458.4(PAX3):c.1420+104G>A	coding	Benign
2	222201889	G	A	G222201889A	PAX3	NM_181458.4(PAX3):c.1420+55C>T	coding	Benign
2	222202134	G	C	G222202134C	PAX3	NM_181458.4(PAX3):c.1230C>G:p.Tyr410Ter	coding	Pathogenic
2	222202200	C	G	C222202200G	PAX3	NM_181458.4(PAX3):c.1174-10G>C	noncoding	Benign
2	222220147	G	C	G222220147C	PAX3	NM_181458.4(PAX3):c.1166C>G:p.Ser389Ter	coding	Pathogenic
2	222220195	G	A	G222220195A	PAX3	NM_181458.4(PAX3):c.1118C>T:p.Pro373Leu	coding	Benign/Likely_benign
2	222220242	G	A	G222220242A	PAX3	NM_181458.4(PAX3):c.1071C>T:p.Pro357=	coding	Benign
2	222220310	G	A	G222220310A	PAX3	NM_181458.4(PAX3):c.1003C>T:p.Pro335Ser	coding	Benign
2	222221301	C	A	C222221301A	PAX3	NM_181458.4(PAX3):c.879G>T:p.Gly293=	coding	Benign/Likely_benign
2	222221307	G	A	G222221307A	PAX3	NM_181458.4(PAX3):c.873C>T:p.Pro291=	coding	Benign/Likely_benign
2	222221359	C	T	C222221359T	PAX3	NM_181457.4(PAX3):c.821G>A:p.Trp274Ter	coding	Pathogenic
2	222221368	C	T	C222221368T	PAX3	NM_181458.4(PAX3):c.812G>A:p.Arg271His	coding	Pathogenic
2	222221369	G	A	G222221369A	PAX3	NM_181458.4(PAX3):c.811C>T:p.Arg271Cys	coding	Pathogenic
2	222221372	G	A	G222221372A	PAX3	NM_181458.4(PAX3):c.808C>T:p.Arg270Cys	coding	Pathogenic
2	222221373	G	A	G222221373A	PAX3	NM_181458.4(PAX3):c.807C>T:p.Asn269=	coding	Benign
2	222232086	G	A	G222232086A	PAX3	NM_181458.4(PAX3):c.784C>T:p.Arg262Ter	coding	Pathogenic
2	222232155	C	A	C222232155A	PAX3	NM_181458.4(PAX3):c.715G>T:p.Glu239Ter	coding	Pathogenic
2	222232202	C	T	C222232202T	PAX3	NM_181458.4(PAX3):c.668G>A:p.Arg223Gln	coding	Pathogenic
2	222232203	G	A	G222232203A	PAX3	NM_181457.4(PAX3):c.667C>T:p.Arg223Ter	coding	Pathogenic
2	222232268	G	C	G222232268C	PAX3	NM_181457.4(PAX3):c.602C>G:p.Ser201Ter	coding	Pathogenic
2	222294110	T	C	T222294110C	PAX3	NM_181458.4(PAX3):c.586+57A>G	coding	Benign/Likely_benign
2	222294170	G	A	G222294170A	PAX3	NM_181457.4(PAX3):c.583C>T:p.Arg195Ter	coding	Pathogenic
2	222295564	T	A	T222295564A	PAX3	NM_181458.4(PAX3):c.415A>T:p.Lys139Ter	coding	Pathogenic
2	222296887	C	A	C222296887A	PAX3	NM_181458.4(PAX3):c.321+91G>T	noncoding	Benign
2	222296968	G	T	G222296968T	PAX3	NM_181458.4(PAX3):c.321+10C>A	noncoding	Benign
2	222297031	A	G	A222297031G	PAX3	NM_181458.4(PAX3):c.268T>C:p.Tyr90His	coding	Pathogenic
2	222297048	G	A	G222297048A	PAX3	NM_181458.4(PAX3):c.251C>T:p.Ser84Phe	coding	Pathogenic
2	222297057	C	G	C222297057G	PAX3	NM_181457.3(PAX3):c.242G>C:p.Gly81Ala	coding	Pathogenic
2	222297061	G	C	G222297061C	PAX3	NM_181458.4(PAX3):c.238C>G:p.His80Asp	coding	Pathogenic
2	222297081	G	A	G222297081A	PAX3	NM_181458.4(PAX3):c.218C>T:p.Ser73Leu	coding	Pathogenic
2	222297132	C	A	C222297132A	PAX3	NM_181458.4(PAX3):c.167G>T:p.Arg56Leu	coding	Pathogenic
2	222297143	G	C	G222297143C	PAX3	NM_181458.4(PAX3):c.156C>G:p.Pro52=	coding	Benign
2	222297150	G	A	G222297150A	PAX3	NM_181458.4(PAX3):c.149C>T:p.Pro50Leu	coding	Pathogenic
2	222297157	C	G	C222297157G	PAX3	NM_181458.4(PAX3):c.142G>C:p.Gly48Arg	coding	Pathogenic/Likely_pathogenic
2	222297158	G	C	G222297158C	PAX3	NM_181458.4(PAX3):c.141C>G:p.Asn47Lys	coding	Pathogenic
2	222297160	T	G	T222297160G	PAX3	NM_181458.4(PAX3):c.139A>C:p.Asn47His	coding	Pathogenic
2	222297170	A	G	A222297170G	PAX3	NM_181458.4(PAX3):c.129T>C:p.Gly43=	coding	Benign
2	222297172	C	A	C222297172A	PAX3	NM_181458.4(PAX3):c.127G>T:p.Gly43Cys	coding	Pathogenic
2	222297173	G	T	G222297173T	PAX3	NM_181458.4(PAX3):c.126C>A:p.Gly42=	coding	Benign
2	222298820	G	A	G222298820A	PAX3	NM_181458.4(PAX3):c.-205C>T	noncoding	Benign
2	222298974	C	A	C222298974A	PAX3	NM_181458.4(PAX3):c.-359G>T	noncoding	Benign
2	222613892	T	G	T222613892G	FARSB	NM_005687.5(FARSB):c.1381A>C:p.Thr461Pro	coding	Pathogenic
2	222623699	C	T	C222623699T	FARSB	NM_005687.5(FARSB):c.1202G>A:p.Arg401Gln	coding	Pathogenic
2	222630112	C	T	C222630112T	FARSB	NM_005687.5(FARSB):c.848+1G>A	noncoding	Pathogenic
2	222631606	T	C	T222631606C	FARSB	NM_005687.5(FARSB):c.784A>G:p.Lys262Glu	coding	Pathogenic
2	222631623	G	A	G222631623A	FARSB	NM_005687.5(FARSB):c.767C>T:p.Thr256Met	coding	Pathogenic/Likely_pathogenic
2	222631635	A	G	A222631635G	FARSB	NM_005687.5(FARSB):c.755T>C:p.Phe252Ser	coding	Pathogenic
2	222642894	A	G	A222642894G	FARSB	NM_005687.5(FARSB):c.226T>C:p.Cys76Arg	coding	Pathogenic
2	222689414	C	T	C222689414T	MOGAT1	NM_058165.3(MOGAT1):c.423C>T:p.His141=	coding	Benign
2	222694392	C	A	C222694392A	MOGAT1	NM_058165.3(MOGAT1):c.509C>A:p.Ser170Tyr	coding	Benign
2	222908805	C	T	C222908805T	ACSL3	NM_004457.5(ACSL3):c.33C>T:p.Thr11=	coding	Benign
2	222916468	A	G	A222916468G	ACSL3	NM_004457.5(ACSL3):c.528A>G:p.Ala176=	coding	Benign
2	222934572	G	A	G222934572A	ACSL3	NM_004457.5(ACSL3):c.1890G>A:p.Lys630=	coding	Benign
2	223597489	G	A	G223597489A	SCG2	NM_003469.5(SCG2):c.1794C>T:p.Asn598=	coding	Benign
2	223957073	A	T	A223957073T	MRPL44	NC_000002.12:g.223957073A>T	noncoding	Benign
2	223957952	T	C	T223957952C	MRPL44	NM_022915.4(MRPL44):c.179+301T>C	noncoding	Benign
2	223959285	C	A	C223959285A	MRPL44	NM_022915.4(MRPL44):c.180-249C>A	noncoding	Benign
2	223959767	C	T	C223959767T	MRPL44	NM_022915.4(MRPL44):c.413C>T:p.Thr138Ile	coding	Benign
2	223959821	T	G	T223959821G	MRPL44	NM_022915.4(MRPL44):c.467T>G:p.Leu156Arg	coding	Pathogenic/Likely_pathogenic
2	223959900	A	G	A223959900G	MRPL44	NM_022915.4(MRPL44):c.546A>G:p.Glu182=	coding	Benign
2	223959978	T	C	T223959978C	MRPL44	NM_022915.4(MRPL44):c.624T>C:p.Pro208=	coding	Benign
2	223960006	C	T	C223960006T	MRPL44	NM_022915.4(MRPL44):c.648+4C>T	noncoding	Benign
2	223963581	G	A	G223963581A	MRPL44	NM_022915.4(MRPL44):c.649-175G>A	noncoding	Benign
2	223963779	T	A	T223963779A	MRPL44	NM_022915.4(MRPL44):c.672T>A:p.Thr224=	coding	Benign
2	223963907	T	A	T223963907A	MRPL44	NM_022915.4(MRPL44):c.800T>A:p.Leu267Ter	coding	Pathogenic
2	223963952	C	T	C223963952T	MRPL44	NM_022915.4(MRPL44):c.827+18C>T	noncoding	Benign
2	223966850	G	C	G223966850C	MRPL44	NM_022915.4(MRPL44):c.828-13G>C	noncoding	Benign
2	224470254	T	C	T224470254C	CUL3	NM_003590.5(CUL3):c.*3991A>G	noncoding	Benign
2	224470272	A	T	A224470272T	CUL3	NM_003590.5(CUL3):c.*3973T>A	noncoding	Benign
2	224470456	G	A	G224470456A	CUL3	NM_003590.5(CUL3):c.*3789C>T	noncoding	Benign
2	224470573	A	G	A224470573G	CUL3	NM_003590.5(CUL3):c.*3672T>C	noncoding	Benign
2	224470782	A	G	A224470782G	CUL3	NM_003590.5(CUL3):c.*3463T>C	noncoding	Benign/Likely_benign
2	224470878	A	G	A224470878G	CUL3	NM_003590.5(CUL3):c.*3367T>C	noncoding	Benign
2	224471089	T	C	T224471089C	CUL3	NM_003590.5(CUL3):c.*3156A>G	noncoding	Benign/Likely_benign
2	224471097	T	C	T224471097C	CUL3	NM_003590.5(CUL3):c.*3148A>G	noncoding	Benign
2	224471300	C	G	C224471300G	CUL3	NM_003590.5(CUL3):c.*2945G>C	noncoding	Benign/Likely_benign
2	224471322	T	G	T224471322G	CUL3	NM_003590.5(CUL3):c.*2923A>C	noncoding	Benign/Likely_benign
2	224471333	A	G	A224471333G	CUL3	NM_003590.5(CUL3):c.*2912T>C	noncoding	Benign/Likely_benign
2	224471382	A	C	A224471382C	CUL3	NM_003590.5(CUL3):c.*2863T>G	noncoding	Benign/Likely_benign
2	224471592	C	T	C224471592T	CUL3	NM_003590.5(CUL3):c.*2653G>A	noncoding	Benign
2	224471814	C	A	C224471814A	CUL3	NM_003590.5(CUL3):c.*2431G>T	noncoding	Benign
2	224472052	C	T	C224472052T	CUL3	NM_003590.5(CUL3):c.*2193G>A	noncoding	Benign
2	224472053	A	G	A224472053G	CUL3	NM_003590.5(CUL3):c.*2192T>C	noncoding	Benign
2	224472172	T	C	T224472172C	CUL3	NM_003590.5(CUL3):c.*2073A>G	noncoding	Benign
2	224472373	C	G	C224472373G	CUL3	NM_003590.5(CUL3):c.*1872G>C	noncoding	Benign/Likely_benign
2	224472471	C	A	C224472471A	CUL3	NM_003590.5(CUL3):c.*1774G>T	noncoding	Benign
2	224472762	G	C	G224472762C	CUL3	NM_003590.5(CUL3):c.*1483C>G	noncoding	Benign/Likely_benign
2	224472842	T	G	T224472842G	CUL3	NM_003590.5(CUL3):c.*1403A>C	noncoding	Benign/Likely_benign
2	224473305	G	A	G224473305A	CUL3	NM_003590.5(CUL3):c.*940C>T	noncoding	Benign
2	224473349	C	G	C224473349G	CUL3	NM_003590.5(CUL3):c.*896G>C	noncoding	Benign/Likely_benign
2	224474121	G	A	G224474121A	CUL3	NM_003590.5(CUL3):c.*124C>T	noncoding	Benign
2	224478323	G	A	G224478323A	CUL3	NM_003590.5(CUL3):c.2052C>T:p.Ser684=	coding	Benign/Likely_benign
2	224481878	A	G	A224481878G	CUL3	NM_003590.5(CUL3):c.2029+14T>C	noncoding	Benign/Likely_benign
2	224481929	T	C	T224481929C	CUL3	NM_003590.5(CUL3):c.1992A>G:p.Gln664=	coding	Benign
2	224482019	G	A	G224482019A	CUL3	NM_003590.5(CUL3):c.1902C>T:p.Leu634=	coding	Benign
2	224482087	T	G	T224482087G	CUL3	NM_003590.5(CUL3):c.1843-9A>C	noncoding	Benign
2	224495980	A	T	A224495980T	CUL3	NM_003590.5(CUL3):c.1708-14T>A	noncoding	Benign
2	224497761	C	T	C224497761T	CUL3	NM_003590.5(CUL3):c.1699G>A:p.Val567Ile	coding	Benign
2	224497809	G	A	G224497809A	CUL3	NM_003590.5(CUL3):c.1651C>T:p.Gln551Ter	coding	Pathogenic
2	224500392	T	A	T224500392A	CUL3	NM_003590.5(CUL3):c.1581A>T:p.Ala527=	coding	Benign/Likely_benign
2	224502952	C	T	C224502952T	CUL3	NM_003590.5(CUL3):c.1485+13G>A	noncoding	Benign
2	224503049	C	T	C224503049T	CUL3	NM_003590.5(CUL3):c.1401G>A:p.Thr467=	coding	Benign
2	224503649	T	C	T224503649C	CUL3	NM_003590.5(CUL3):c.1377+3A>G	noncoding	Pathogenic
2	224503651	C	G	C224503651G	CUL3	NM_003590.5(CUL3):c.1377+1G>C	noncoding	Pathogenic
2	224503653	T	C	T224503653C	CUL3	NM_003590.5(CUL3):c.1376A>G:p.Lys459Arg	coding	Pathogenic
2	224503791	T	C	T224503791C	CUL3	NM_003590.5(CUL3):c.1238A>G:p.Asp413Gly	coding	Pathogenic
2	224503793	C	T	C224503793T	CUL3	NM_003590.5(CUL3):c.1236G>A:p.Leu412=	coding	Pathogenic
2	224503823	C	T	C224503823T	CUL3	NM_003590.5(CUL3):c.1207-1G>A	coding	Pathogenic
2	224503825	G	A	G224503825A	CUL3	NM_003590.5(CUL3):c.1207-3C>T	noncoding	Pathogenic
2	224503827	A	T	A224503827T	CUL3	NM_003590.5(CUL3):c.1207-5T>A	noncoding	Pathogenic
2	224503834	A	C	A224503834C	CUL3	NM_003590.5(CUL3):c.1207-12T>G	noncoding	Pathogenic
2	224503848	T	C	T224503848C	CUL3	NM_003590.5(CUL3):c.1207-26A>G	noncoding	Pathogenic
2	224503850	A	C	A224503850C	CUL3	NM_003590.5(CUL3):c.1207-28T>G	noncoding	Pathogenic
2	224511341	C	G	C224511341G	CUL3	NM_003590.5(CUL3):c.883+13G>C	noncoding	Benign/Likely_benign
2	224511544	T	G	T224511544G	CUL3	NM_003590.5(CUL3):c.693A>C:p.Ser231=	coding	Benign/Likely_benign
2	224513537	G	C	G224513537C	CUL3	NM_003590.5(CUL3):c.641C>G:p.Ala214Gly	coding	Pathogenic
2	224513578	G	C	G224513578C	CUL3	NM_003590.5(CUL3):c.600C>G:p.Val200=	coding	Benign/Likely_benign
2	224513635	G	A	G224513635A	CUL3	NM_003590.5(CUL3):c.543C>T:p.Gly181=	coding	Benign
2	224557650	G	A	G224557650A	CUL3	NM_003590.5(CUL3):c.264+9C>T	noncoding	Benign/Likely_benign
2	224569728	A	G	A224569728G	CUL3	NM_003590.5(CUL3):c.67-11872T>C	coding	Benign
2	224584989	G	A	G224584989A	CUL3	NM_003590.5(CUL3):c.21C>T:p.Gly7=	coding	Benign
2	224585152	C	T	C224585152T	CUL3	NM_003590.5(CUL3):c.-143G>A	noncoding	Benign
2	224585229	G	A	G224585229A	CUL3	NM_003590.5(CUL3):c.-220C>T	noncoding	Benign
2	224585298	C	T	C224585298T	CUL3	NM_003590.5(CUL3):c.-289G>A	noncoding	Benign
2	224773259	G	A	G224773259A	DOCK10	NM_014689.3(DOCK10):c.6102C>T:p.Asp2034=	coding	Benign
2	224775068	G	A	G224775068A	DOCK10	NM_014689.3(DOCK10):c.5850C>T:p.Thr1950=	coding	Benign
2	224800267	T	C	T224800267C	DOCK10	NM_014689.3(DOCK10):c.4394-4A>G	noncoding	Benign
2	224805210	C	T	C224805210T	DOCK10	NM_014689.3(DOCK10):c.4047G>A:p.Ser1349=	coding	Benign
2	224874723	T	G	T224874723G	DOCK10	NM_014689.3(DOCK10):c.960A>C:p.Glu320Asp	coding	Benign
2	225651472	G	C	G225651472C	NYAP2	NM_020864.1(NYAP2):c.1869G>C:p.Thr623=	coding	Benign
2	226795160	C	T	C226795160T	IRS1	NM_005544.2(IRS1):c.3579G>A:p.Gln1193=	coding	Benign
2	226795250	T	G	T226795250G	IRS1	NM_005544.2(IRS1):c.3489A>C:p.Pro1163=	coding	Benign
2	226795330	C	T	C226795330T	IRS1	NM_005544.2(IRS1):c.3409G>A:p.Asp1137Asn	coding	Benign
2	226795925	A	G	A226795925G	IRS1	NM_005544.2(IRS1):c.2814T>C:p.Thr938=	coding	Benign
2	226795973	C	T	C226795973T	IRS1	NM_005544.2(IRS1):c.2766G>A:p.Arg922=	coding	Benign
2	226796065	T	C	T226796065C	IRS1	NM_005544.2(IRS1):c.2674A>G:p.Ser892Gly	coding	Benign
2	226796381	A	G	A226796381G	IRS1	NM_005544.2(IRS1):c.2358T>C:p.His786=	coding	Benign
2	226796399	C	T	C226796399T	IRS1	NM_005544.2(IRS1):c.2340G>A:p.Pro780=	coding	Benign
2	226796735	G	A	G226796735A	IRS1	NM_005544.2(IRS1):c.2004C>T:p.Ser668=	coding	Benign
2	226796753	G	A	G226796753A	IRS1	NM_005544.2(IRS1):c.1986C>T:p.Tyr662=	coding	Benign
2	226796916	G	C	G226796916C	IRS1	NM_005544.2(IRS1):c.1823C>G:p.Thr608Arg	coding	Pathogenic
2	226797205	C	G	C226797205G	IRS1	NM_005544.2(IRS1):c.1534G>C:p.Ala512Pro	coding	Benign
2	226797299	G	A	G226797299A	IRS1	NM_005544.2(IRS1):c.1440C>T:p.Asn480=	coding	Benign
2	226797473	A	G	A226797473G	IRS1	NM_005544.2(IRS1):c.1266T>C:p.Asp422=	coding	Benign
2	226798607	G	A	G226798607A	IRS1	NM_005544.2(IRS1):c.132C>T:p.Leu44=	coding	Benign
2	226995471	C	T	C226995471T	RHBDD1	NM_001167608.3(RHBDD1):c.897C>T:p.Leu299=	coding	Benign
2	227002723	G	C	G227002723C	COL4A4	NM_000092.4(COL4A4):c.*4602C>G	noncoding	Benign
2	227003003	G	A	G227003003A	COL4A4	NM_000092.4(COL4A4):c.*4322C>T	noncoding	Benign
2	227004138	C	T	C227004138T	COL4A4	NM_000092.4(COL4A4):c.*3187G>A	noncoding	Benign
2	227005860	A	T	A227005860T	COL4A4	NM_000092.5(COL4A4):c.*1465T>A	noncoding	Benign
2	227007081	G	A	G227007081A	COL4A4	NM_000092.4(COL4A4):c.*244C>T	noncoding	Benign
2	227007382	T	C	T227007382C	COL4A4	NM_000092.4(COL4A4):c.5016A>G:p.Glu1672=	coding	Benign/Likely_benign
2	227007466	G	A	G227007466A	COL4A4	NM_000092.5(COL4A4):c.4932C>T:p.Phe1644=	coding	Benign
2	227007475	G	T	G227007475T	COL4A4	NM_000092.4(COL4A4):c.4923C>A:p.Cys1641Ter	coding	Pathogenic
2	227007541	A	G	A227007541G	COL4A4	NM_000092.4(COL4A4):c.4857T>C:p.Pro1619=	coding	Benign/Likely_benign
2	227008059	G	A	G227008059A	COL4A4	NM_000092.4(COL4A4):c.4768C>T:p.Gln1590Ter	coding	Pathogenic
2	227008096	C	T	C227008096T	COL4A4	NM_000092.4(COL4A4):c.4731G>A:p.Ala1577=	coding	Benign/Likely_benign
2	227008171	C	T	C227008171T	COL4A4	NM_000092.5(COL4A4):c.4656G>A:p.Met1552Ile	coding	Benign
2	227008204	G	C	G227008204C	COL4A4	NM_000092.4(COL4A4):c.4623C>G:p.Tyr1541Ter	coding	Pathogenic/Likely_pathogenic
2	227008279	T	C	T227008279C	COL4A4	NM_000092.5(COL4A4):c.4548A>G:p.Val1516=	coding	Benign
2	227008312	A	G	A227008312G	COL4A4	NM_000092.5(COL4A4):c.4523-8T>C	noncoding	Benign
2	227010313	C	T	C227010313T	COL4A4	NM_000092.5(COL4A4):c.4522G>A:p.Gly1508Ser	coding	Pathogenic
2	227010501	C	T	C227010501T	COL4A4	NM_000092.4(COL4A4):c.4334G>A:p.Gly1445Glu	coding	Pathogenic
2	227022057	A	G	A227022057G	COL4A4	NM_000092.5(COL4A4):c.4207T>C:p.Ser1403Pro	coding	Benign
2	227022069	T	A	T227022069A	COL4A4	NM_000092.4(COL4A4):c.4195A>T:p.Met1399Leu	coding	Benign/Likely_benign
2	227022135	G	A	G227022135A	COL4A4	NM_000092.4(COL4A4):c.4129C>T:p.Arg1377Ter	coding	Pathogenic
2	227025818	G	A	G227025818A	COL4A4	NM_000092.4(COL4A4):c.4082-8C>T	noncoding	Benign/Likely_benign
2	227027903	C	T	C227027903T	COL4A4	NM_000092.5(COL4A4):c.4080G>A:p.Pro1360=	coding	Benign
2	227027942	T	C	T227027942C	COL4A4	NM_000092.4(COL4A4):c.4041A>G:p.Leu1347=	coding	Benign
2	227030453	A	G	A227030453G	COL4A4	NM_000092.5(COL4A4):c.3963T>C:p.Asp1321=	coding	Benign/Likely_benign
2	227030483	G	C	G227030483C	COL4A4	NM_000092.5(COL4A4):c.3933C>G:p.Tyr1311Ter	coding	Pathogenic/Likely_pathogenic
2	227030531	A	G	A227030531G	COL4A4	NM_000092.5(COL4A4):c.3885T>C:p.Gly1295=	coding	Benign
2	227030545	G	C	G227030545C	COL4A4	NM_000092.5(COL4A4):c.3871C>G:p.Pro1291Ala	coding	Benign/Likely_benign
2	227031936	C	G	C227031936G	COL4A4	NM_000092.5(COL4A4):c.3817+9G>C	noncoding	Benign
2	227032049	G	T	G227032049T	COL4A4	NM_000092.4(COL4A4):c.3713C>A:p.Ser1238Ter	coding	Pathogenic
2	227032149	T	C	T227032149C	COL4A4	NM_000092.5(COL4A4):c.3705A>G:p.Pro1235=	coding	Benign
2	227032170	C	T	C227032170T	COL4A4	NM_000092.5(COL4A4):c.3684G>A:p.Lys1228=	coding	Benign
2	227032253	C	T	C227032253T	COL4A4	NM_000092.4(COL4A4):c.3601G>A:p.Gly1201Ser	coding	Pathogenic
2	227032260	C	T	C227032260T	COL4A4	NM_000092.5(COL4A4):c.3594G>A:p.Gly1198=	coding	Benign
2	227042167	T	C	T227042167C	COL4A4	NM_000092.4(COL4A4):c.3486A>G:p.Pro1162=	coding	Benign/Likely_benign
2	227047531	G	A	G227047531A	COL4A4	NM_000092.5(COL4A4):c.3233C>T:p.Ala1078Val	coding	Benign
2	227047532	C	T	C227047532T	COL4A4	NM_000092.5(COL4A4):c.3232G>A:p.Ala1078Thr	coding	Benign
2	227051109	T	A	T227051109A	COL4A4	NM_000092.5(COL4A4):c.3018A>T:p.Arg1006Ser	coding	Benign
2	227051116	G	A	G227051116A	COL4A4	NM_000092.5(COL4A4):c.3011C>T:p.Pro1004Leu	coding	Benign
2	227051141	C	T	C227051141T	COL4A4	NM_000092.4(COL4A4):c.2986G>A:p.Gly996Arg	coding	Pathogenic
2	227051159	C	G	C227051159G	COL4A4	NM_000092.5(COL4A4):c.2969-1G>C	coding	Pathogenic
2	227051208	T	C	T227051208C	COL4A4	NM_000092.4(COL4A4):c.2969-50A>G	noncoding	Benign
2	227052366	T	G	T227052366G	COL4A4	NM_000092.4(COL4A4):c.2907A>C:p.Ser969=	coding	Benign/Likely_benign
2	227052367	G	C	G227052367C	COL4A4	NM_000092.5(COL4A4):c.2906C>G	coding	Pathogenic
2	227052374	T	C	T227052374C	COL4A4	NM_000092.5(COL4A4):c.2899A>G:p.Ile967Val	coding	Benign
2	227052395	C	G	C227052395G	COL4A4	NM_000092.4(COL4A4):c.2878G>C:p.Gly960Arg	coding	Pathogenic
2	227052395	C	T	C227052395T	COL4A4	NM_000092.4(COL4A4):c.2878G>A:p.Gly960Arg	coding	Pathogenic/Likely_pathogenic
2	227052396	G	A	G227052396A	COL4A4	NM_000092.4(COL4A4):c.2877C>T:p.Pro959=	coding	Benign/Likely_benign
2	227054658	C	T	C227054658T	COL4A4	NM_000092.4(COL4A4):c.2796G>A:p.Lys932=	coding	Benign
2	227054663	C	T	C227054663T	COL4A4	NM_000092.4(COL4A4):c.2791G>A:p.Ala931Thr	coding	Benign/Likely_benign
2	227054720	C	T	C227054720T	COL4A4	NM_000092.4(COL4A4):c.2734G>A:p.Gly912Ser	coding	Pathogenic
2	227055971	C	T	C227055971T	COL4A4	NM_000092.4(COL4A4):c.2690G>A:p.Gly897Glu	coding	Pathogenic/Likely_pathogenic
2	227056121	A	G	A227056121G	COL4A4	NM_000092.5(COL4A4):c.2546-6T>C	noncoding	Benign
2	227057296	A	T	A227057296T	COL4A4	NM_000092.5(COL4A4):c.2545+143T>A	noncoding	Benign
2	227057545	T	A	T227057545A	COL4A4	NM_000092.4(COL4A4):c.2439A>T:p.Gly813=	coding	Benign/Likely_benign
2	227057605	A	G	A227057605G	COL4A4	NM_000092.5(COL4A4):c.2384-5T>C	noncoding	Benign
2	227059421	T	A	T227059421A	COL4A4	NM_000092.4(COL4A4):c.2367A>T:p.Gly789=	coding	Benign/Likely_benign
2	227059512	G	A	G227059512A	COL4A4	NM_000092.4(COL4A4):c.2276C>T:p.Pro759Leu	coding	Benign
2	227059638	A	C	A227059638C	COL4A4	NM_000092.4(COL4A4):c.2165-15T>G	noncoding	Benign
2	227060058	C	T	C227060058T	COL4A4	NM_000092.4(COL4A4):c.2164+78G>A	noncoding	Benign
2	227060190	C	T	C227060190T	COL4A4	NM_000092.4(COL4A4):c.2110G>A:p.Gly704Arg	coding	Pathogenic
2	227062520	T	C	T227062520C	COL4A4	NM_000092.4(COL4A4):c.2056+10A>G	noncoding	Benign/Likely_benign
2	227062578	C	T	C227062578T	COL4A4	NM_000092.4(COL4A4):c.2008G>A:p.Val670Ile	coding	Benign/Likely_benign
2	227077960	G	A	G227077960A	COL4A4	NM_000092.5(COL4A4):c.1921C>T:p.Arg641Ter	coding	Pathogenic
2	227078048	A	G	A227078048G	COL4A4	NM_000092.4(COL4A4):c.1833T>C:p.Gly611=	coding	Benign/Likely_benign
2	227078060	C	T	C227078060T	COL4A4	NM_000092.5(COL4A4):c.1821G>A:p.Ala607=	coding	Benign
2	227080464	T	C	T227080464C	COL4A4	NM_000092.5(COL4A4):c.1782A>G:p.Glu594=	coding	Benign
2	227080465	T	C	T227080465C	COL4A4	NM_000092.4(COL4A4):c.1781A>G:p.Glu594Gly	coding	Benign/Likely_benign
2	227082177	C	G	C227082177G	COL4A4	NM_000092.5(COL4A4):c.1634G>C:p.Gly545Ala	coding	Benign
2	227088652	C	T	C227088652T	COL4A4	NM_000092.4(COL4A4):c.1623+1G>A	noncoding	Pathogenic
2	227088673	C	A	C227088673A	COL4A4	NM_000092.4(COL4A4):c.1603G>T:p.Glu535Ter	coding	Pathogenic
2	227088678	C	T	C227088678T	COL4A4	NM_000092.4(COL4A4):c.1598G>A:p.Gly533Asp	coding	Pathogenic
2	227089883	G	A	G227089883A	COL4A4	NM_000092.5(COL4A4):c.1444C>T:p.Pro482Ser	coding	Benign
2	227089886	C	T	C227089886T	COL4A4	NM_000092.4(COL4A4):c.1441G>A:p.Gly481Ser	coding	Pathogenic
2	227089925	G	A	G227089925A	COL4A4	NM_000092.5(COL4A4):c.1402C>T:p.Gln468Ter	coding	Pathogenic
2	227089931	C	T	C227089931T	COL4A4	NM_000092.4(COL4A4):c.1396G>A:p.Gly466Arg	coding	Pathogenic
2	227094171	A	G	A227094171G	COL4A4	NM_000092.5(COL4A4):c.1323T>C:p.Pro441=	coding	Benign/Likely_benign
2	227098696	G	A	G227098696A	COL4A4	NM_000092.5(COL4A4):c.1202C>T:p.Ala401Val	coding	Benign/Likely_benign
2	227098780	C	T	C227098780T	COL4A4	NM_000092.4(COL4A4):c.1118G>A:p.Gly373Glu	coding	Pathogenic
2	227098800	T	G	T227098800G	COL4A4	NM_000092.4(COL4A4):c.1100-2A>C	noncoding	Pathogenic
2	227099674	G	A	G227099674A	COL4A4	NM_000092.5(COL4A4):c.1045C>T	coding	Pathogenic/Likely_pathogenic
2	227101892	A	G	A227101892G	COL4A4	NM_000092.5(COL4A4):c.948T>C:p.Tyr316=	coding	Benign
2	227104040	G	A	G227104040A	COL4A4	NM_000092.5(COL4A4):c.748C>T:p.Gln250Ter	coding	Pathogenic
2	227108860	C	T	C227108860T	COL4A4	NM_000092.4(COL4A4):c.666G>A:p.Pro222=	coding	Benign
2	227109157	T	C	T227109157C	COL4A4	NM_000092.4(COL4A4):c.657+67A>G	noncoding	Benign
2	227109162	C	T	C227109162T	COL4A4	NM_000092.4(COL4A4):c.657+62G>A	noncoding	Benign
2	227109176	T	C	T227109176C	COL4A4	NM_000092.4(COL4A4):c.657+48A>G	noncoding	Benign
2	227109286	C	A	C227109286A	COL4A4	NM_000092.5(COL4A4):c.595G>T:p.Gly199Ter	coding	Pathogenic
2	227118688	C	A	C227118688A	COL4A4	NM_000092.4(COL4A4):c.446G>T:p.Gly149Val	coding	Pathogenic
2	227121111	C	G	C227121111G	COL4A4	NM_000092.5(COL4A4):c.230G>C:p.Gly77Ala	coding	Pathogenic
2	227121143	T	C	T227121143C	COL4A4	NM_000092.4(COL4A4):c.198A>G:p.Pro66=	coding	Benign/Likely_benign
2	227144528	T	C	T227144528C	COL4A4	NM_000092.4(COL4A4):c.102A>G:p.Gln34=	coding	Benign
2	227147403	G	A	G227147403A	COL4A4	NM_000092.5(COL4A4):c.71+10C>T	noncoding	Benign
2	227147412	C	T	C227147412T	COL4A4	NM_000092.5(COL4A4):c.71+1G>A	noncoding	Pathogenic
2	227147467	A	G	A227147467G	COL4A4	NM_000092.5(COL4A4):c.17T>C:p.Ile6Thr	coding	Benign
2	227147485	G	A	G227147485A	COL4A4	NM_000092.5(COL4A4):c.-2C>T	noncoding	Benign
2	227147498	A	G	A227147498G	COL4A4	NM_000092.4(COL4A4):c.-15T>C	noncoding	Benign/Likely_benign
2	227147562	G	A	G227147562A	COL4A4	NM_000092.4(COL4A4):c.-79C>T	noncoding	Benign
2	227164754	C	T	C227164754T	COL4A3	NM_000091.5(COL4A3):c.28C>T:p.Gln10Ter	coding	Pathogenic
2	227164771	G	A	G227164771A	COL4A3	NM_000091.5(COL4A3):c.45G>A:p.Pro15=	coding	Benign
2	227164797	C	G	C227164797G	COL4A3	NM_000091.4(COL4A3):c.71C>G:p.Ala24Gly	coding	Benign
2	227164799	C	T	C227164799T	COL4A3	NM_000091.4(COL4A3):c.73C>T:p.Pro25Ser	coding	Benign
2	227237964	C	T	C227237964T	COL4A3	NM_000091.5(COL4A3):c.88-4C>T	noncoding	Benign
2	227238007	G	C	G227238007C	COL4A3	NM_000091.5(COL4A3):c.127G>C:p.Gly43Arg	coding	Benign
2	227238022	A	T	A227238022T	COL4A3	NM_000091.5(COL4A3):c.142A>T:p.Lys48Ter	coding	Pathogenic
2	227238036	C	A	C227238036A	COL4A3	NM_000091.5(COL4A3):c.144+12C>A	noncoding	Benign
2	227240220	G	T	G227240220T	COL4A3	NM_000091.4(COL4A3):c.222G>T:p.Pro74=	coding	Benign/Likely_benign
2	227244346	G	C	G227244346C	COL4A3	NM_000091.5(COL4A3):c.261G>C:p.Thr87=	coding	Benign
2	227245975	C	A	C227245975A	COL4A3	NM_000091.4(COL4A3):c.346C>A:p.Pro116Thr	coding	Benign/Likely_benign
2	227245980	C	A	C227245980A	COL4A3	NM_000091.5(COL4A3):c.351C>A:p.Tyr117Ter	coding	Pathogenic
2	227246017	G	A	G227246017A	COL4A3	NM_000091.5(COL4A3):c.387+1G>A	coding	Pathogenic
2	227246688	G	T	G227246688T	COL4A3	NM_000091.4(COL4A3):c.391G>T:p.Glu131Ter	coding	Pathogenic/Likely_pathogenic
2	227246696	G	A	G227246696A	COL4A3	NM_000091.4(COL4A3):c.399G>A:p.Gly133=	coding	Benign
2	227246719	T	C	T227246719C	COL4A3	NM_000091.5(COL4A3):c.422T>C:p.Leu141Pro	coding	Benign
2	227248459	A	G	A227248459G	COL4A3	NM_000091.5(COL4A3):c.485A>G:p.Glu162Gly	coding	Benign
2	227248494	G	A	G227248494A	COL4A3	NM_000091.4(COL4A3):c.520G>A:p.Gly174Arg	coding	Pathogenic
2	227251131	A	C	A227251131C	COL4A3	NM_000091.4(COL4A3):c.547-9A>C	noncoding	Benign
2	227251363	G	A	G227251363A	COL4A3	NM_000091.4(COL4A3):c.637G>A:p.Gly213Arg	coding	Pathogenic
2	227253638	G	T	G227253638T	COL4A3	NM_000091.4(COL4A3):c.765G>T:p.Thr255=	coding	Pathogenic
2	227253640	T	C	T227253640C	COL4A3	NM_000091.4(COL4A3):c.765+2T>C	noncoding	Pathogenic
2	227254099	G	A	G227254099A	COL4A3	NM_000091.5(COL4A3):c.766-13G>A	noncoding	Benign
2	227254151	G	A	G227254151A	COL4A3	NM_000091.5(COL4A3):c.805G>A:p.Glu269Lys	coding	Benign
2	227254194	A	G	A227254194G	COL4A3	NM_000091.4(COL4A3):c.828+20A>G	noncoding	Benign
2	227254745	G	A	G227254745A	COL4A3	NM_000091.4(COL4A3):c.888+30G>A	noncoding	Benign
2	227256035	G	T	G227256035T	COL4A3	NM_000091.5(COL4A3):c.898G>T:p.Gly300Ter	coding	Pathogenic
2	227256084	T	C	T227256084C	COL4A3	NM_000091.5(COL4A3):c.933+14T>C	noncoding	Benign
2	227256385	G	T	G227256385T	COL4A3	NM_000091.5(COL4A3):c.976G>T:p.Asp326Tyr	coding	Benign
2	227256431	T	G	T227256431G	COL4A3	NM_000091.4(COL4A3):c.987+35T>G	noncoding	Benign
2	227257613	G	C	G227257613C	COL4A3	NM_000091.4(COL4A3):c.998G>C:p.Gly333Ala	coding	Pathogenic
2	227257621	G	T	G227257621T	COL4A3	NM_000091.4(COL4A3):c.1006G>T:p.Gly336Cys	coding	Pathogenic/Likely_pathogenic
2	227259775	G	A	G227259775A	COL4A3	NM_000091.4(COL4A3):c.1030-18G>A	noncoding	Benign
2	227259814	C	T	C227259814T	COL4A3	NM_000091.4(COL4A3):c.1051C>T:p.Gln351Ter	coding	Pathogenic
2	227261062	T	C	T227261062C	COL4A3	NM_000091.4(COL4A3):c.1115-20T>C	noncoding	Benign
2	227263804	G	A	G227263804A	COL4A3	NM_000091.4(COL4A3):c.1175G>A:p.Gly392Glu	coding	Pathogenic
2	227263824	C	T	C227263824T	COL4A3	NM_000091.5(COL4A3):c.1195C>T:p.Leu399=	coding	Benign
2	227263845	C	T	C227263845T	COL4A3	NM_000091.4(COL4A3):c.1216C>T:p.Arg406Ter	coding	Pathogenic
2	227263852	G	A	G227263852A	COL4A3	NM_000091.5(COL4A3):c.1223G>A:p.Arg408His	coding	Benign
2	227266453	A	G	A227266453G	COL4A3	NM_000091.5(COL4A3):c.1352A>G:p.His451Arg	coding	Benign/Likely_benign
2	227266454	C	T	C227266454T	COL4A3	NM_000091.5(COL4A3):c.1353C>T:p.His451=	coding	Benign/Likely_benign
2	227266499	T	C	T227266499C	COL4A3	NM_000091.4(COL4A3):c.1398T>C:p.Asp466=	coding	Benign/Likely_benign
2	227267034	G	A	G227267034A	COL4A3;MFF-DT	NM_000091.5(COL4A3):c.1450G>A:p.Gly484Arg	coding	Pathogenic
2	227267036	G	A	G227267036A	COL4A3	NM_000091.5(COL4A3):c.1452G>A:p.Gly484=	coding	Benign
2	227267089	G	A	G227267089A	COL4A3;MFF-DT	NM_000091.4(COL4A3):c.1504+1G>A	coding	Pathogenic
2	227269899	T	C	T227269899C	COL4A3	NM_000091.5(COL4A3):c.1505-11T>C	noncoding	Benign
2	227269908	A	C	A227269908C	COL4A3	NM_000091.5(COL4A3):c.1505-2A>C	noncoding	Pathogenic
2	227269964	G	A	G227269964A	COL4A3	NM_000091.5(COL4A3):c.1559G>A:p.Gly520Asp	coding	Pathogenic
2	227270710	G	A	G227270710A	COL4A3	NM_000091.4(COL4A3):c.1576-60G>A	noncoding	Benign
2	227270755	T	G	T227270755G	COL4A3	NM_000091.5(COL4A3):c.1576-15T>G	noncoding	Benign
2	227270788	G	T	G227270788T	COL4A3	NM_000091.4(COL4A3):c.1594G>T:p.Gly532Cys	coding	Pathogenic/Likely_pathogenic
2	227270915	C	T	C227270915T	COL4A3	NM_000091.5(COL4A3):c.1721C>T:p.Pro574Leu	coding	Benign
2	227273021	G	A	G227273021A	COL4A3	NM_000091.5(COL4A3):c.1831G>A:p.Gly611Arg	coding	Pathogenic
2	227279793	G	A	G227279793A	COL4A3	NM_000091.5(COL4A3):c.2126G>A	coding	Pathogenic
2	227279823	C	G	C227279823G	COL4A3	NM_000091.5(COL4A3):c.2156C>G:p.Ser719Ter	coding	Pathogenic
2	227280569	G	T	G227280569T	COL4A3	NM_000091.5(COL4A3):c.2353G>T:p.Glu785Ter	coding	Pathogenic
2	227280587	C	T	C227280587T	COL4A3	NM_000091.5(COL4A3):c.2371C>T	coding	Pathogenic/Likely_pathogenic
2	227280970	G	A	G227280970A	COL4A3	NM_000091.4(COL4A3):c.2452G>A:p.Gly818Arg	coding	Pathogenic
2	227282373	G	A	G227282373A	COL4A3	NM_000091.5(COL4A3):c.2497G>A:p.Gly833Ser	coding	Pathogenic
2	227282377	A	G	A227282377G	COL4A3	NM_000091.4(COL4A3):c.2501A>G:p.Lys834Arg	coding	Benign/Likely_benign
2	227283825	C	T	C227283825T	COL4A3	NM_000091.5(COL4A3):c.2715C>T:p.Pro905=	coding	Benign/Likely_benign
2	227283857	G	T	G227283857T	COL4A3	NM_000091.5(COL4A3):c.2746+1G>T	coding	Pathogenic
2	227284210	G	T	G227284210T	COL4A3	NM_000091.5(COL4A3):c.2747-1G>T	noncoding	Pathogenic
2	227284346	G	T	G227284346T	COL4A3;MFF-DT	NM_000091.4(COL4A3):c.2881+1G>T	coding	Pathogenic
2	227289154	C	T	C227289154T	COL4A3	NM_000091.4(COL4A3):c.2886C>T:p.Phe962=	coding	Benign/Likely_benign
2	227290049	C	T	C227290049T	COL4A3	NM_000091.4(COL4A3):c.3031C>T:p.Arg1011Cys	coding	Benign/Likely_benign
2	227290062	G	A	G227290062A	COL4A3	NM_000091.5(COL4A3):c.3044G>A	coding	Pathogenic
2	227290785	C	T	C227290785T	COL4A3	NM_000091.4(COL4A3):c.3109C>T:p.Arg1037Ter	coding	Pathogenic
2	227290810	G	T	G227290810T	COL4A3	NM_000091.5(COL4A3):c.3134G>T:p.Gly1045Val	coding	Pathogenic
2	227293210	G	A	G227293210A	COL4A3	NM_000091.4(COL4A3):c.3230G>A:p.Gly1077Asp	coding	Pathogenic
2	227293230	G	T	G227293230T	COL4A3	NM_000091.4(COL4A3):c.3250G>T:p.Glu1084Ter	coding	Pathogenic
2	227293246	G	A	G227293246A	COL4A3	NM_000091.4(COL4A3):c.3266G>A:p.Gly1089Asp	coding	Pathogenic
2	227294562	G	A	G227294562A	COL4A3	NM_000091.4(COL4A3):c.3410G>A:p.Gly1137Asp	coding	Pathogenic
2	227294925	C	T	C227294925T	COL4A3	NM_000091.4(COL4A3):c.3419-39C>T	noncoding	Benign
2	227294950	T	G	T227294950G	COL4A3	NM_000091.4(COL4A3):c.3419-14T>G	noncoding	Benign
2	227295044	G	A	G227295044A	COL4A3	NM_000091.4(COL4A3):c.3499G>A:p.Gly1167Arg	coding	Pathogenic/Likely_pathogenic
2	227297664	T	C	T227297664C	COL4A3	NM_000091.4(COL4A3):c.3566-10T>C	noncoding	Benign/Likely_benign
2	227297672	A	G	A227297672G	COL4A3	NM_000091.5(COL4A3):c.3566-2A>G	noncoding	Pathogenic
2	227297683	G	A	G227297683A	COL4A3	NM_000091.4(COL4A3):c.3575G>A:p.Gly1192Glu	coding	Pathogenic
2	227297727	G	C	G227297727C	COL4A3	NM_000091.5(COL4A3):c.3619G>C:p.Gly1207Arg	coding	Pathogenic
2	227297728	G	A	G227297728A	COL4A3	NM_000091.4(COL4A3):c.3620G>A:p.Gly1207Glu	coding	Pathogenic
2	227297735	G	A	G227297735A	COL4A3	NM_000091.4(COL4A3):c.3627G>A:p.Met1209Ile	coding	Benign/Likely_benign
2	227298737	C	A	C227298737A	COL4A3	NM_000091.5(COL4A3):c.3807C>A:p.Asp1269Glu	coding	Benign
2	227303110	G	A	G227303110A	COL4A3	NM_000091.4(COL4A3):c.3955G>A:p.Gly1319Arg	coding	Pathogenic
2	227303894	G	T	G227303894T	COL4A3	NM_000091.5(COL4A3):c.3991G>T:p.Gly1331Ter	coding	Pathogenic
2	227304032	C	A	C227304032A	COL4A3	NM_000091.5(COL4A3):c.4041C>A:p.Asp1347Glu	coding	Benign
2	227305066	G	T	G227305066T	COL4A3	NM_000091.5(COL4A3):c.4235G>T:p.Gly1412Val	coding	Pathogenic
2	227307805	C	T	C227307805T	COL4A3	NM_000091.5(COL4A3):c.4348C>T:p.Arg1450Ter	coding	Pathogenic
2	227307837	T	C	T227307837C	COL4A3	NM_000091.4(COL4A3):c.4380T>C:p.Cys1460=	coding	Benign/Likely_benign
2	227307839	C	T	C227307839T	COL4A3	NM_000091.4(COL4A3):c.4382C>T:p.Pro1461Leu	coding	Pathogenic
2	227307898	C	T	C227307898T	COL4A3	NM_000091.4(COL4A3):c.4441C>T:p.Arg1481Ter	coding	Pathogenic
2	227308910	A	T	A227308910T	COL4A3	NM_000091.4(COL4A3):c.4474A>T:p.Ser1492Cys	coding	Pathogenic
2	227308920	A	G	A227308920G	COL4A3	NM_000091.5(COL4A3):c.4484A>G:p.Gln1495Arg	coding	Benign/Likely_benign
2	227308922	C	T	C227308922T	COL4A3	NM_000091.4(COL4A3):c.4486C>T:p.Arg1496Ter	coding	Pathogenic/Likely_pathogenic
2	227308982	C	T	C227308982T	COL4A3	NM_000091.4(COL4A3):c.4546C>T:p.Arg1516Ter	coding	Pathogenic/Likely_pathogenic
2	227309228	G	A	G227309228A	COL4A3	NM_000091.4(COL4A3):c.4665G>A:p.Ala1555=	coding	Benign/Likely_benign
2	227309270	A	T	A227309270T	COL4A3	NM_000091.4(COL4A3):c.4707A>T:p.Pro1569=	coding	Benign/Likely_benign
2	227310839	G	T	G227310839T	COL4A3	NM_000091.4(COL4A3):c.4819G>T:p.Glu1607Ter	coding	Pathogenic
2	227310845	C	T	C227310845T	COL4A3	NM_000091.4(COL4A3):c.4825C>T:p.Arg1609Ter	coding	Pathogenic
2	227312047	A	G	A227312047G	COL4A3	NM_000091.4(COL4A3):c.*177A>G	noncoding	Benign
2	227312156	C	T	C227312156T	COL4A3	NM_000091.4(COL4A3):c.*286C>T	noncoding	Benign
2	227312185	A	C	A227312185C	COL4A3	NM_000091.4(COL4A3):c.*315A>C	noncoding	Benign
2	227312459	C	T	C227312459T	COL4A3	NM_000091.4(COL4A3):c.*589C>T	noncoding	Benign
2	227312465	A	T	A227312465T	COL4A3	NM_000091.4(COL4A3):c.*595A>T	noncoding	Benign
2	227312763	C	T	C227312763T	COL4A3	NM_000091.4(COL4A3):c.*893C>T	noncoding	Benign
2	227312851	C	T	C227312851T	COL4A3	NM_000091.4(COL4A3):c.*981C>T	noncoding	Benign
2	227313035	G	A	G227313035A	COL4A3	NM_000091.4(COL4A3):c.*1165G>A	noncoding	Benign
2	227313109	C	G	C227313109G	COL4A3	NM_000091.4(COL4A3):c.*1239C>G	noncoding	Benign
2	227313533	G	C	G227313533C	COL4A3	NM_000091.4(COL4A3):c.*1663G>C	noncoding	Benign
2	227313551	A	G	A227313551G	COL4A3	NM_000091.4(COL4A3):c.*1681A>G	noncoding	Benign
2	227313739	C	A	C227313739A	COL4A3	NM_000091.5(COL4A3):c.*1869C>A	noncoding	Benign
2	227313929	C	G	C227313929G	COL4A3	NM_000091.4(COL4A3):c.*2059C>G	noncoding	Benign
2	227314064	A	C	A227314064C	COL4A3	NM_000091.4(COL4A3):c.*2194A>C	noncoding	Benign
2	227314322	T	C	T227314322C	COL4A3	NM_000091.4(COL4A3):c.*2452T>C	noncoding	Benign
2	227314522	G	A	G227314522A	COL4A3	NM_000091.4(COL4A3):c.*2652G>A	noncoding	Benign
2	227314612	C	T	C227314612T	COL4A3	NM_000091.4(COL4A3):c.*2742C>T	noncoding	Benign
2	227329764	A	T	A227329764T	MFF	NM_001277062.2(MFF):c.-40-862A>T	coding	Benign
2	227329765	G	T	G227329765T	MFF	NM_001277062.2(MFF):c.-40-861G>T	coding	Benign
2	227329937	C	T	C227329937T	MFF	NM_001277062.2(MFF):c.-40-689C>T	noncoding	Benign
2	227330332	G	A	G227330332A	MFF	NM_001277062.2(MFF):c.-40-294G>A	noncoding	Benign
2	227330335	G	A	G227330335A	MFF	NM_001277062.2(MFF):c.-40-291G>A	noncoding	Benign
2	227330777	C	T	C227330777T	MFF	NM_001277062.2(MFF):c.112C>T:p.Gln38Ter	coding	Pathogenic/Likely_pathogenic
2	227332522	G	A	G227332522A	MFF	NM_001277062.2(MFF):c.285G>A:p.Thr95=	coding	Benign
2	227332772	A	G	A227332772G	MFF	NM_001277062.2(MFF):c.351+184A>G	noncoding	Benign
2	227343060	C	A	C227343060A	MFF	NM_001277062.2(MFF):c.440+2680C>A	noncoding	Benign
2	227352544	C	A	C227352544A	MFF	NM_001277062.2(MFF):c.630C>A:p.Ala210=	coding	Benign
2	227355445	C	T	C227355445T	MFF	NM_001277062.2(MFF):c.660-232C>T	noncoding	Benign
2	227355511	T	C	T227355511C	MFF	NM_001277062.2(MFF):c.660-166T>C	noncoding	Benign
2	227355572	A	G	A227355572G	MFF	NM_001277062.2(MFF):c.660-105A>G	noncoding	Benign
2	227355617	G	A	G227355617A	MFF	NM_001277062.2(MFF):c.660-60G>A	noncoding	Benign
2	227355756	C	T	C227355756T	MFF	NM_001277062.2(MFF):c.739C>T:p.Arg247Ter	coding	Pathogenic
2	227356053	T	C	T227356053C	MFF	NM_001277062.2(MFF):c.744+292T>C	noncoding	Benign
2	227357009	A	G	A227357009G	MFF	NM_001277062.2(MFF):c.768A>G:p.Leu256=	coding	Benign
2	227685713	T	C	T227685713C	SLC19A3	NM_025243.4(SLC19A3):c.*1684A>G	noncoding	Benign
2	227686307	C	T	C227686307T	SLC19A3	NM_025243.4(SLC19A3):c.*1090G>A	noncoding	Benign
2	227686891	G	A	G227686891A	SLC19A3	NM_025243.4(SLC19A3):c.*506C>T	noncoding	Benign
2	227687194	G	A	G227687194A	SLC19A3	NM_025243.4(SLC19A3):c.*203C>T	noncoding	Benign
2	227687282	G	C	G227687282C	SLC19A3	NM_025243.4(SLC19A3):c.*115C>G	noncoding	Benign
2	227687294	G	T	G227687294T	SLC19A3	NM_025243.4(SLC19A3):c.*103C>A	noncoding	Benign
2	227687556	G	C	G227687556C	SLC19A3	NM_025243.4(SLC19A3):c.1332C>G:p.Ser444Arg	coding	Pathogenic
2	227687696	G	A	G227687696A	SLC19A3	NM_025243.4(SLC19A3):c.1315-123C>T	noncoding	Benign
2	227687993	C	T	C227687993T	SLC19A3	NM_025243.4(SLC19A3):c.1314+173G>A	noncoding	Benign
2	227688045	G	T	G227688045T	SLC19A3	NM_025243.4(SLC19A3):c.1314+121C>A	noncoding	Benign
2	227688165	C	T	C227688165T	SLC19A3	NM_025243.4(SLC19A3):c.1314+1G>A	noncoding	Pathogenic
2	227688216	T	C	T227688216C	SLC19A3	NM_025243.4(SLC19A3):c.1264A>G:p.Thr422Ala	coding	Pathogenic
2	227688354	G	A	G227688354A	SLC19A3	NM_025243.4(SLC19A3):c.1173-47C>T	noncoding	Benign
2	227695616	T	C	T227695616C	SLC19A3	NM_025243.4(SLC19A3):c.1172+273A>G	noncoding	Benign
2	227695680	T	C	T227695680C	SLC19A3	NM_025243.4(SLC19A3):c.1172+209A>G	noncoding	Benign
2	227695693	T	A	T227695693A	SLC19A3	NM_025243.4(SLC19A3):c.1172+196A>T	noncoding	Benign
2	227695907	A	C	A227695907C	SLC19A3	NM_025243.4(SLC19A3):c.1154T>G:p.Leu385Arg	coding	Pathogenic
2	227695929	T	C	T227695929C	SLC19A3	NM_025243.4(SLC19A3):c.1132A>G:p.Ile378Val	coding	Benign/Likely_benign
2	227696012	A	G	A227696012G	SLC19A3	NM_025243.4(SLC19A3):c.1049T>C:p.Val350Ala	coding	Benign
2	227696095	T	C	T227696095C	SLC19A3	NM_025243.4(SLC19A3):c.980-14A>G	noncoding	Pathogenic
2	227696286	C	T	C227696286T	SLC19A3	NM_025243.4(SLC19A3):c.980-205G>A	noncoding	Benign
2	227696316	C	T	C227696316T	SLC19A3	NM_025243.4(SLC19A3):c.980-235G>A	noncoding	Benign
2	227696327	C	T	C227696327T	SLC19A3	NM_025243.4(SLC19A3):c.980-246G>A	noncoding	Benign
2	227698643	C	T	C227698643T	SLC19A3	NM_025243.4(SLC19A3):c.979+93G>A	noncoding	Benign
2	227698694	C	G	C227698694G	SLC19A3	NM_025243.4(SLC19A3):c.979+42G>C	noncoding	Benign
2	227698717	T	C	T227698717C	SLC19A3	NM_025243.4(SLC19A3):c.979+19A>G	noncoding	Benign
2	227698753	G	A	G227698753A	SLC19A3	NM_025243.4(SLC19A3):c.962C>T:p.Ala321Val	coding	Pathogenic
2	227698757	C	G	C227698757G	SLC19A3	NM_025243.4(SLC19A3):c.958G>C:p.Glu320Gln	coding	Pathogenic
2	227698821	A	C	A227698821C	SLC19A3	NM_025243.4(SLC19A3):c.894T>G:p.Tyr298Ter	coding	Pathogenic
2	227698861	C	T	C227698861T	SLC19A3	NM_025243.4(SLC19A3):c.854G>A:p.Trp285Ter	coding	Pathogenic
2	227698865	A	G	A227698865G	SLC19A3	NM_025243.4(SLC19A3):c.850T>C:p.Trp284Arg	coding	Pathogenic
2	227698959	C	T	C227698959T	SLC19A3	NM_025243.4(SLC19A3):c.756G>A:p.Leu252=	coding	Benign
2	227699166	A	G	A227699166G	SLC19A3	NM_025243.4(SLC19A3):c.549T>C:p.Ala183=	coding	Benign
2	227699169	C	T	C227699169T	SLC19A3	NM_025243.4(SLC19A3):c.546G>A:p.Val182=	coding	Benign/Likely_benign
2	227699174	A	G	A227699174G	SLC19A3	NM_025243.4(SLC19A3):c.541T>C:p.Ser181Pro	coding	Pathogenic
2	227699195	C	T	C227699195T	SLC19A3	NM_025243.4(SLC19A3):c.520G>A:p.Val174Ile	coding	Benign
2	227699251	G	A	G227699251A	SLC19A3	NM_025243.4(SLC19A3):c.464C>T:p.Ser155Leu	coding	Pathogenic
2	227699280	G	A	G227699280A	SLC19A3	NM_025243.4(SLC19A3):c.435C>T:p.Ser145=	coding	Benign
2	227699331	G	C	G227699331C	SLC19A3	NM_025243.4(SLC19A3):c.384C>G:p.Tyr128Ter	coding	Pathogenic
2	227699378	A	G	A227699378G	SLC19A3	NM_025243.4(SLC19A3):c.337T>C:p.Tyr113His	coding	Pathogenic/Likely_pathogenic
2	227699406	C	T	C227699406T	SLC19A3	NM_025243.4(SLC19A3):c.309G>A:p.Val103=	coding	Benign/Likely_benign
2	227699435	A	G	A227699435G	SLC19A3	NM_025243.4(SLC19A3):c.280T>C:p.Trp94Arg	coding	Pathogenic
2	227699450	T	G	T227699450G	SLC19A3	NM_025243.4(SLC19A3):c.265A>C:p.Ser89Arg	coding	Pathogenic
2	227699518	A	G	A227699518G	SLC19A3	NM_025243.4(SLC19A3):c.197T>C:p.Leu66Pro	coding	Pathogenic
2	227699526	G	T	G227699526T	SLC19A3	NM_025243.4(SLC19A3):c.189C>A:p.Tyr63Ter	coding	Pathogenic
2	227699875	A	T	A227699875T	SLC19A3	NM_025243.4(SLC19A3):c.151-311T>A	noncoding	Benign
2	227701966	T	G	T227701966G	SLC19A3	NM_025243.4(SLC19A3):c.150+203A>C	noncoding	Benign
2	227701971	T	C	T227701971C	SLC19A3	NM_025243.4(SLC19A3):c.150+198A>G	noncoding	Benign
2	227702189	T	C	T227702189C	SLC19A3	NM_025243.4(SLC19A3):c.130A>G:p.Lys44Glu	coding	Pathogenic
2	227702220	T	C	T227702220C	SLC19A3	NM_025243.4(SLC19A3):c.99A>G:p.Pro33=	coding	Benign/Likely_benign
2	227702251	C	A	C227702251A	SLC19A3	NM_025243.4(SLC19A3):c.68G>T:p.Gly23Val	coding	Pathogenic
2	227702277	G	A	G227702277A	SLC19A3	NM_025243.4(SLC19A3):c.42C>T:p.Tyr14=	coding	Benign
2	227702299	G	T	G227702299T	SLC19A3	NM_025243.4(SLC19A3):c.20C>A:p.Ser7Ter	coding	Pathogenic
2	227702301	A	T	A227702301T	SLC19A3	NM_025243.4(SLC19A3):c.18T>A:p.Thr6=	coding	Benign/Likely_benign
2	227702330	T	C	T227702330C	SLC19A3	NM_025243.4(SLC19A3):c.-2-10A>G	noncoding	Benign
2	227718030	G	A	G227718030A	SLC19A3	NM_025243.3(SLC19A3):c.-90C>T	noncoding	Benign
2	227816337	C	T	C227816337T	CCL20	NM_004591.3(CCL20):c.222C>T:p.Cys74=	coding	Benign
2	227871710	G	T	G227871710T	DAW1	NM_178821.3(DAW1):c.21G>T:p.Leu7=	coding	Benign
2	227981848	C	G	C227981848G	SPHKAP	NM_001142644.2(SPHKAP):c.4972G>C:p.Val1658Leu	coding	Benign
2	227991277	C	T	C227991277T	SPHKAP	NM_001142644.2(SPHKAP):c.4771G>A:p.Glu1591Lys	coding	Benign
2	227993525	G	T	G227993525T	SPHKAP	NM_001142644.2(SPHKAP):c.4721+9C>A	noncoding	Benign
2	229366881	C	T	C229366881T	DNER	NM_139072.4(DNER):c.2094G>A:p.Arg698=	coding	Benign
2	229367103	G	A	G229367103A	DNER	NM_139072.4(DNER):c.1872C>T:p.Ser624=	coding	Benign
2	229367112	T	C	T229367112C	DNER	NM_139072.4(DNER):c.1863A>G:p.Gln621=	coding	Benign
2	229407275	G	A	G229407275A	DNER	NM_139072.4(DNER):c.1680C>T:p.Ser560=	coding	Benign
2	229447500	G	A	G229447500A	DNER	NM_139072.4(DNER):c.1302C>T:p.Cys434=	coding	Benign
2	229588498	G	A	G229588498A	DNER	NM_139072.4(DNER):c.586-10C>T	noncoding	Benign
2	229591625	C	T	C229591625T	DNER	NM_139072.4(DNER):c.540G>A:p.Pro180=	coding	Benign
2	229591740	G	A	G229591740A	DNER	NM_139072.4(DNER):c.425C>T:p.Thr142Ile	coding	Benign
2	229771636	C	A	C229771636A	TRIP12	NM_001284214.2(TRIP12):c.5614-4G>T	noncoding	Benign
2	229785842	C	T	C229785842T	TRIP12	NM_001284214.2(TRIP12):c.4928G>A:p.Arg1643Gln	coding	Pathogenic
2	229787503	A	G	A229787503G	TRIP12	NM_001284214.2(TRIP12):c.4914+2T>C	noncoding	Pathogenic
2	229791963	G	A	G229791963A	TRIP12	NM_001284214.2(TRIP12):c.4237C>T:p.Gln1413Ter	coding	Pathogenic
2	229793078	G	A	G229793078A	TRIP12	NM_001284214.2(TRIP12):c.3955C>T:p.Gln1319Ter	coding	Pathogenic
2	229795178	C	T	C229795178T	TRIP12	NM_001284214.2(TRIP12):c.3887+1G>A	noncoding	Pathogenic
2	229795231	G	A	G229795231A	TRIP12	NM_001348323.3(TRIP12):c.3916C>T:p.Gln1306Ter	coding	Pathogenic
2	229797814	C	T	C229797814T	TRIP12	NM_001348323.3(TRIP12):c.3500G>A:p.Trp1167Ter	coding	Pathogenic
2	229798874	C	T	C229798874T	TRIP12	NM_001284214.2(TRIP12):c.3401+1G>A	noncoding	Pathogenic
2	229802292	G	A	G229802292A	TRIP12	NM_001284214.2(TRIP12):c.3085C>T:p.Gln1029Ter	coding	Pathogenic
2	229810980	A	G	A229810980G	TRIP12	NM_001284214.2(TRIP12):c.2121T>C:p.Thr707=	coding	Benign
2	229815092	G	A	G229815092A	TRIP12	NM_001284214.2(TRIP12):c.1731+7C>T	noncoding	Benign
2	229815146	G	A	G229815146A	TRIP12	NM_001348323.3(TRIP12):c.1684C>T:p.Arg562Ter	coding	Pathogenic
2	229815179	G	A	G229815179A	TRIP12	NM_001284214.2(TRIP12):c.1651C>T:p.Arg551Ter	coding	Pathogenic
2	229818362	A	G	A229818362G	TRIP12	NM_001284214.2(TRIP12):c.1599+2T>C	noncoding	Pathogenic
2	229830774	C	A	C229830774A	TRIP12	NM_001348323.3(TRIP12):c.1336G>T:p.Glu446Ter	coding	Pathogenic
2	230046220	C	T	C230046220T	SLC16A14	NM_152527.5(SLC16A14):c.906G>A:p.Ser302=	coding	Benign
2	230170643	C	T	C230170643T	SP110	NM_004509.4(SP110):c.1934G>A:p.Arg645His	coding	Benign
2	230172052	T	C	T230172052C	SP110	NM_080424.4(SP110):c.1815+14A>G	noncoding	Benign
2	230172144	C	T	C230172144T	SP110	NM_080424.4(SP110):c.1737G>A:p.Met579Ile	coding	Benign
2	230172150	G	A	G230172150A	SP110	NM_080424.4(SP110):c.1731C>T:p.Cys577=	coding	Benign
2	230172900	A	G	A230172900G	SP110	NM_080424.4(SP110):c.1650T>C:p.Gly550=	coding	Benign
2	230172903	G	A	G230172903A	SP110	NM_004509.4(SP110):c.1647C>T:p.Cys549=	coding	Benign
2	230177560	A	G	A230177560G	SP110	NM_080424.4(SP110):c.1568T>C:p.Met523Thr	coding	Benign
2	230177664	G	A	G230177664A	SP110	NM_004509.4(SP110):c.1464C>T:p.Cys488=	coding	Benign/Likely_benign
2	230178157	C	T	C230178157T	SP110	NM_004509.4(SP110):c.1447G>A:p.Gly483Arg	coding	Benign
2	230178191	C	T	C230178191T	SP110	NM_004509.4(SP110):c.1413G>A:p.Ala471=	coding	Benign
2	230185999	A	G	A230185999G	SP110	NM_080424.4(SP110):c.1274T>C:p.Leu425Ser	coding	Benign
2	230186154	T	C	T230186154C	SP110	NM_080424.4(SP110):c.1130-11A>G	noncoding	Benign
2	230200914	G	A	G230200914A	SP110	NM_004509.4(SP110):c.1100C>T:p.Thr367Met	coding	Benign/Likely_benign
2	230202589	C	G	C230202589G	SP110	NM_004509.4(SP110):c.1038G>C:p.Ser346=	coding	Benign
2	230202597	G	A	G230202597A	SP110	NM_080424.4(SP110):c.1030C>T:p.Arg344Ter	coding	Pathogenic
2	230202649	A	C	A230202649C	SP110	NM_004509.4(SP110):c.978T>G:p.Thr326=	coding	Benign
2	230207994	C	T	C230207994T	SP110	NM_080424.4(SP110):c.895G>A:p.Gly299Arg	coding	Benign
2	230211476	T	C	T230211476C	SP110	NM_004509.4(SP110):c.745A>G:p.Met249Val	coding	Benign
2	230212395	C	T	C230212395T	SP110	NM_080424.4(SP110):c.619G>A:p.Glu207Lys	coding	Benign
2	230212397	G	A	G230212397A	SP110	NM_080424.4(SP110):c.617C>T:p.Ala206Val	coding	Benign
2	230212439	G	A	G230212439A	SP110	NM_080424.4(SP110):c.584-9C>T	noncoding	Benign
2	230212440	G	C	G230212440C	SP110	NM_004509.4(SP110):c.584-10C>G	noncoding	Benign/Likely_benign
2	230212753	T	C	T230212753C	SP110	NM_004509.4(SP110):c.583+8A>G	noncoding	Benign
2	230212802	A	C	A230212802C	SP110	NM_004509.4(SP110):c.542T>G:p.Leu181Arg	coding	Benign
2	230212822	G	A	G230212822A	SP110	NM_004509.4(SP110):c.522C>T:p.Pro174=	coding	Benign/Likely_benign
2	230212961	G	A	G230212961A	SP110	NM_080424.4(SP110):c.383C>T:p.Ala128Val	coding	Benign
2	230212968	C	T	C230212968T	SP110	NM_004509.4(SP110):c.376G>A:p.Gly126Ser	coding	Benign
2	230213010	A	G	A230213010G	SP110	NM_080424.4(SP110):c.334T>C:p.Trp112Arg	coding	Benign
2	230237140	T	G	T230237140G	SP140	NM_007237.5(SP140):c.117T>G:p.Pro39=	coding	Benign
2	230241495	T	C	T230241495C	SP140	NM_007237.5(SP140):c.490+8T>C	noncoding	Benign
2	230255494	G	C	G230255494C	SP140	NM_007237.5(SP140):c.1202G>C:p.Arg401Pro	coding	Benign
2	230270578	T	C	T230270578C	SP140	NM_007237.5(SP140):c.1445-8T>C	noncoding	Benign
2	230284359	G	A	G230284359A	SP140	NM_007237.5(SP140):c.1512G>A:p.Gly504=	coding	Benign
2	230287918	C	T	C230287918T	SP140	NM_007237.5(SP140):c.1672C>T:p.Arg558Cys	coding	Benign
2	230401811	G	A	G230401811A	SP140L	NM_138402.5(SP140L):c.1644+4G>A	noncoding	Benign
2	230462469	C	T	C230462469T	SP100	NM_001080391.2(SP100):c.1008C>T:p.Asp336=	coding	Benign
2	230877483	G	T	G230877483T	ITM2C	NM_030926.6(ITM2C):c.645G>T:p.Gly215=	coding	Benign
2	230877499	C	T	C230877499T	ITM2C	NM_030926.6(ITM2C):c.661C>T:p.Leu221=	coding	Benign
2	230910656	C	T	C230910656T	GPR55	NM_005683.4(GPR55):c.307G>A:p.Val103Ile	coding	Benign
2	231078656	C	T	C231078656T	PSMD1	NM_002807.4(PSMD1):c.1072-3C>T	noncoding	Benign
2	231108649	G	A	G231108649A	HTR2B	NM_000867.5(HTR2B):c.1314C>T:p.Asn438=	coding	Benign
2	231108702	T	C	T231108702C	HTR2B	NM_000867.5(HTR2B):c.1261A>G:p.Met421Val	coding	Benign
2	231109129	C	T	C231109129T	HTR2B	NM_000867.5(HTR2B):c.834G>A:p.Pro278=	coding	Benign
2	231109341	C	A	C231109341A	HTR2B	NM_000867.5(HTR2B):c.622G>T:p.Val208Leu	coding	Benign
2	231123613	C	T	C231123613T	HTR2B	NM_000867.5(HTR2B):c.152G>A:p.Gly51Glu	coding	Benign
2	231123674	A	G	A231123674G	HTR2B	NM_000867.5(HTR2B):c.91T>C:p.Trp31Arg	coding	Benign
2	231163682	A	G	A231163682G	PSMD1	NM_002807.4(PSMD1):c.2436A>G:p.Ala812=	coding	Benign
2	231165191	T	C	T231165191C	PSMD1	NM_002807.4(PSMD1):c.2482-9T>C	noncoding	Benign
2	231206248	A	G	A231206248G	ARMC9	NM_001352754.2(ARMC9):c.10A>G:p.Ile4Val	coding	Benign
2	231206294	G	T	G231206294T	ARMC9	NM_001352754.2(ARMC9):c.51+5G>T	noncoding	Pathogenic/Likely_pathogenic
2	231214858	G	A	G231214858A	ARMC9	NM_001352754.2(ARMC9):c.205G>A:p.Gly69Arg	coding	Pathogenic/Likely_pathogenic
2	231214912	C	T	C231214912T	ARMC9	NM_001352754.2(ARMC9):c.259C>T:p.Arg87Ter	coding	Pathogenic/Likely_pathogenic
2	231222761	A	G	A231222761G	ARMC9	NM_001352754.2(ARMC9):c.538A>G:p.Ile180Val	coding	Benign
2	231235227	T	C	T231235227C	ARMC9	NM_001352754.2(ARMC9):c.626T>C:p.Ile209Thr	coding	Benign
2	231235266	G	A	G231235266A	ARMC9	NM_001352754.2(ARMC9):c.665G>A:p.Arg222His	coding	Benign
2	231240041	G	A	G231240041A	ARMC9	NM_001352754.2(ARMC9):c.879G>A:p.Thr293=	coding	Pathogenic/Likely_pathogenic
2	231262306	C	A	C231262306A	ARMC9	NM_001352754.2(ARMC9):c.1027C>A:p.Arg343Ser	coding	Pathogenic/Likely_pathogenic
2	231262306	C	T	C231262306T	ARMC9	NM_001352754.2(ARMC9):c.1027C>T:p.Arg343Cys	coding	Pathogenic
2	231271027	C	T	C231271027T	ARMC9	NM_001352754.2(ARMC9):c.1165C>T:p.Gln389Ter	coding	Pathogenic
2	231271029	G	A	G231271029A	ARMC9	NM_001352754.2(ARMC9):c.1167G>A:p.Gln389=	coding	Benign
2	231272980	A	G	A231272980G	ARMC9	NM_001352754.2(ARMC9):c.1236A>G:p.Thr412=	coding	Benign
2	231273058	C	G	C231273058G	ARMC9	NM_001352754.2(ARMC9):c.1314C>G:p.Ala438=	coding	Benign
2	231276637	C	T	C231276637T	ARMC9	NM_001352754.2(ARMC9):c.1336C>T:p.Arg446Cys	coding	Pathogenic/Likely_pathogenic
2	231276642	G	A	G231276642A	ARMC9	NM_001352754.2(ARMC9):c.1341G>A:p.Pro447=	coding	Benign
2	231276775	G	A	G231276775A	ARMC9	NM_001352754.2(ARMC9):c.1474G>A:p.Gly492Arg	coding	Pathogenic/Likely_pathogenic
2	231276776	G	C	G231276776C	ARMC9	NM_001352754.2(ARMC9):c.1474+1G>C	coding	Pathogenic/Likely_pathogenic
2	231278397	C	T	C231278397T	ARMC9	NM_001352754.2(ARMC9):c.1490C>T:p.Ala497Val	coding	Benign
2	231278465	A	G	A231278465G	ARMC9	NM_001352754.2(ARMC9):c.1551+7A>G	noncoding	Benign
2	231282066	C	T	C231282066T	ARMC9	NM_001352754.2(ARMC9):c.1559C>T:p.Pro520Leu	coding	Pathogenic/Likely_pathogenic
2	231282067	G	A	G231282067A	ARMC9	NM_001352754.2(ARMC9):c.1560G>A:p.Pro520=	coding	Benign
2	231291349	C	T	C231291349T	ARMC9	NM_001352754.2(ARMC9):c.1627-4C>T	noncoding	Benign
2	231345065	G	A	G231345065A	ARMC9	NM_001352754.2(ARMC9):c.1969G>A:p.Gly657Ser	coding	Benign
2	231370101	G	A	G231370101A	ARMC9	NM_001352754.2(ARMC9):c.2410G>A:p.Ala804Thr	coding	Benign
2	231455391	C	T	C231455391T	NCL	NM_005381.3(NCL):c.2056+10G>A	noncoding	Benign
2	231455570	G	A	G231455570A	NCL	NM_005381.3(NCL):c.1887C>T:p.Ala629=	coding	Benign
2	231456087	T	C	T231456087C	NCL	NM_005381.3(NCL):c.1755A>G:p.Glu585=	coding	Benign
2	231456731	G	A	G231456731A	NCL	NM_005381.3(NCL):c.1605C>T:p.Asp535=	coding	Benign
2	231460754	A	G	A231460754G	NCL	NM_005381.3(NCL):c.726T>C:p.Asp242=	coding	Benign
2	231461565	C	G	C231461565G	NCL	NM_005381.3(NCL):c.588G>C:p.Glu196Asp	coding	Benign
2	231461806	T	G	T231461806G	NCL	NM_005381.3(NCL):c.347A>C:p.Lys116Thr	coding	Benign
2	231525205	G	A	G231525205A	NMUR1	NM_006056.5(NMUR1):c.1119C>T:p.Leu373=	coding	Benign
2	231528246	G	A	G231528246A	NMUR1	NM_006056.5(NMUR1):c.775C>T:p.Arg259Trp	coding	Benign
2	231528486	G	A	G231528486A	NMUR1	NM_006056.5(NMUR1):c.535C>T:p.Arg179Cys	coding	Benign
2	231528541	A	G	A231528541G	NMUR1	NM_006056.5(NMUR1):c.480T>C:p.Tyr160=	coding	Benign
2	231528889	G	A	G231528889A	NMUR1	NM_006056.5(NMUR1):c.132C>T:p.Asp44=	coding	Benign
2	231737179	T	G	T231737179G	PDE6D	NM_002601.4(PDE6D):c.371+8A>C	noncoding	Benign/Likely_benign
2	231738139	C	T	C231738139T	PDE6D	NM_002601.4(PDE6D):c.140-1G>A	coding	Pathogenic
2	231926198	G	A	G231926198A	NPPC	NM_024409.4(NPPC):c.52C>T:p.Leu18Phe	coding	Benign
2	232014961	C	T	C232014961T	DIS3L2	NM_152383.5(DIS3L2):c.34C>T:p.Pro12Ser	coding	Benign
2	232024329	C	T	C232024329T	DIS3L2	NM_152383.5(DIS3L2):c.263C>T:p.Pro88Leu	coding	Benign/Likely_benign
2	232029964	C	A	C232029964A	DIS3L2	NM_152383.4(DIS3L2):c.265-15C>A	noncoding	Benign
2	232029988	C	T	C232029988T	DIS3L2	NM_152383.5(DIS3L2):c.274C>T:p.Arg92Ter	coding	Pathogenic
2	232087546	C	T	C232087546T	DIS3L2	NM_152383.5(DIS3L2):c.426C>T:p.Pro142=	coding	Benign
2	232087576	A	G	A232087576G	DIS3L2	NM_152383.5(DIS3L2):c.456A>G:p.Gln152=	coding	Benign
2	232087625	C	T	C232087625T	DIS3L2	NM_152383.5(DIS3L2):c.505C>T:p.Gln169Ter	coding	Pathogenic
2	232130729	T	G	T232130729G	DIS3L2	NM_152383.5(DIS3L2):c.702+10T>G	coding	Benign/Likely_benign
2	232136502	C	T	C232136502T	DIS3L2	NM_152383.5(DIS3L2):c.733C>T:p.Arg245Ter	coding	Pathogenic
2	232136643	C	A	C232136643A	DIS3L2	NM_152383.5(DIS3L2):c.874C>A:p.Arg292=	coding	Benign
2	232163527	A	G	A232163527G	DIS3L2	NM_152383.5(DIS3L2):c.1019A>G:p.Tyr340Cys	coding	Benign
2	232163604	G	T	G232163604T	DIS3L2	NM_152383.5(DIS3L2):c.1096G>T:p.Glu366Ter	coding	Pathogenic
2	232210363	C	T	C232210363T	DIS3L2	NM_152383.5(DIS3L2):c.1162C>T:p.Arg388Ter	coding	Pathogenic
2	232210371	C	T	C232210371T	DIS3L2	NM_152383.5(DIS3L2):c.1170C>T:p.Leu390=	coding	Benign
2	232263229	G	A	G232263229A	DIS3L2	NM_152383.5(DIS3L2):c.1448G>A:p.Arg483Gln	coding	Benign
2	232263247	G	A	G232263247A	DIS3L2	NM_152383.5(DIS3L2):c.1466G>A:p.Cys489Tyr	coding	Pathogenic
2	232263269	T	C	T232263269C	DIS3L2	NM_152383.5(DIS3L2):c.1488T>C:p.His496=	coding	Benign
2	232263351	G	A	G232263351A	DIS3L2	NM_152383.5(DIS3L2):c.1570G>A:p.Glu524Lys	coding	Benign
2	232329883	C	T	C232329883T	DIS3L2	NM_152383.5(DIS3L2):c.1810C>T:p.Gln604Ter	coding	Pathogenic
2	232329984	A	C	A232329984C	DIS3L2	NM_152383.5(DIS3L2):c.1911A>C:p.Ala637=	coding	Benign
2	232333870	C	T	C232333870T	DIS3L2	NM_152383.5(DIS3L2):c.2041C>T:p.Gln681Ter	coding	Pathogenic
2	232334380	C	T	C232334380T	DIS3L2	NM_152383.5(DIS3L2):c.2170C>T:p.Arg724Ter	coding	Pathogenic
2	232334397	C	T	C232334397T	DIS3L2	NM_152383.5(DIS3L2):c.2187C>T:p.Pro729=	coding	Benign
2	232334711	C	T	C232334711T	DIS3L2	NM_152383.5(DIS3L2):c.2370C>T:p.Gly790=	coding	Benign/Likely_benign
2	232335883	C	T	C232335883T	DIS3L2	NM_152383.4(DIS3L2):c.2496+9C>T	coding	Benign
2	232336618	A	G	A232336618G	DIS3L2	NM_152383.5(DIS3L2):c.2646A>G:p.Ser882=	coding	Benign
2	232336643	G	A	G232336643A	DIS3L2	NM_152383.5(DIS3L2):c.*13G>A	coding	Benign
2	232336707	G	T	G232336707T	DIS3L2	NM_152383.5(DIS3L2):c.*77G>T	coding	Benign
2	232336733	A	G	A232336733G	DIS3L2	NM_152383.5(DIS3L2):c.*103A>G	coding	Benign
2	232336743	T	G	T232336743G	DIS3L2	NM_152383.5(DIS3L2):c.*113T>G	coding	Benign
2	232336885	C	T	C232336885T	DIS3L2	NM_152383.5(DIS3L2):c.*255C>T	coding	Benign
2	232336944	A	T	A232336944T	DIS3L2	NM_152383.5(DIS3L2):c.*314A>T	coding	Benign
2	232336945	G	C	G232336945C	DIS3L2	NM_152383.5(DIS3L2):c.*315G>C	coding	Benign
2	232378876	C	T	C232378876T	ALPP	NM_001632.3(ALPP):c.74C>T:p.Pro25Leu	coding	Benign
2	232379002	C	T	C232379002T	ALPP	NM_001632.5(ALPP):c.108C>T:p.Arg36=	coding	Benign
2	232379003	G	C	G232379003C	ALPP	NM_001632.5(ALPP):c.109G>C:p.Glu37Gln	coding	Benign
2	232379807	C	A	C232379807A	ALPP	NM_001632.5(ALPP):c.528C>A:p.Ala176=	coding	Benign
2	232379936	C	T	C232379936T	ALPP	NM_001632.5(ALPP):c.657C>T:p.Asp219=	coding	Benign
2	232380220	G	C	G232380220C	ALPP	NM_001632.5(ALPP):c.692G>C:p.Arg231Pro	coding	Benign
2	232380258	A	G	A232380258G	ALPP	NM_001632.5(ALPP):c.730A>G:p.Ser244Gly	coding	Benign
2	232380750	C	T	C232380750T	ALPP	NM_001632.5(ALPP):c.993C>T:p.Phe331=	coding	Benign
2	232406918	C	T	C232406918T	ALPG	NM_031313.3(ALPG):c.24C>T:p.Leu8=	coding	Benign
2	232407142	C	T	C232407142T	ALPG	NM_031313.3(ALPG):c.153C>T:p.Ala51=	coding	Benign
2	232407381	C	T	C232407381T	ALPG	NM_031313.3(ALPG):c.280C>T:p.Pro94Ser	coding	Benign
2	232407385	A	T	A232407385T	ALPG	NM_031313.3(ALPG):c.284A>T:p.Tyr95Phe	coding	Benign
2	232407743	C	T	C232407743T	ALPG	NM_031313.3(ALPG):c.450C>T:p.Ser150=	coding	Benign
2	232407885	T	C	T232407885C	ALPG	NM_031313.3(ALPG):c.516T>C:p.His172=	coding	Benign
2	232408301	C	G	C232408301G	ALPG	NM_031313.3(ALPG):c.683C>G:p.Pro228Arg	coding	Benign
2	232408308	G	A	G232408308A	ALPG	NM_031313.3(ALPG):c.690G>A:p.Gly230=	coding	Benign
2	232409766	G	C	G232409766C	ALPG	NM_031313.3(ALPG):c.1493G>C:p.Arg498Pro	coding	Benign
2	232480203	A	G	A232480203G	ECEL1	NM_004826.4(ECEL1):c.2278T>C:p.Cys760Arg	coding	Pathogenic
2	232480452	C	T	C232480452T	ECEL1	NM_004826.4(ECEL1):c.2175G>A:p.Ser725=	coding	Benign
2	232480716	A	T	A232480716T	ECEL1	NM_004826.4(ECEL1):c.2151+2T>A	noncoding	Pathogenic
2	232480764	C	T	C232480764T	ECEL1	NM_004826.4(ECEL1):c.2105G>A:p.Arg702Gln	coding	Benign
2	232481123	C	T	C232481123T	ECEL1	NM_004826.4(ECEL1):c.2023G>A:p.Ala675Thr	coding	Pathogenic
2	232481151	G	A	G232481151A	ECEL1	NM_004826.4(ECEL1):c.1995C>T:p.Asn665=	coding	Benign
2	232481859	C	T	C232481859T	ECEL1	NM_004826.4(ECEL1):c.1797-10G>A	noncoding	Benign
2	232482613	G	A	G232482613A	ECEL1	NM_004826.4(ECEL1):c.1686-5C>T	noncoding	Benign
2	232482850	C	A	C232482850A	ECEL1	NM_004826.4(ECEL1):c.1685+1G>T	noncoding	Pathogenic
2	232482880	C	T	C232482880T	ECEL1	NM_004826.4(ECEL1):c.1656G>A:p.Lys552=	coding	Benign/Likely_benign
2	232482887	G	C	G232482887C	ECEL1	NM_004826.4(ECEL1):c.1649C>G:p.Ser550Ter	coding	Pathogenic
2	232483104	C	T	C232483104T	ECEL1	NM_004826.4(ECEL1):c.1581+1G>A	noncoding	Pathogenic
2	232483415	C	T	C232483415T	ECEL1	NM_004826.4(ECEL1):c.1506+1G>A	noncoding	Pathogenic
2	232483423	C	T	C232483423T	ECEL1	NM_004826.4(ECEL1):c.1499G>A:p.Arg500Gln	coding	Benign
2	232483446	G	A	G232483446A	ECEL1	NM_004826.4(ECEL1):c.1476C>T:p.Asp492=	coding	Benign
2	232483452	C	T	C232483452T	ECEL1	NM_004826.4(ECEL1):c.1470G>A:p.Trp490Ter	coding	Pathogenic
2	232484141	C	G	C232484141G	ECEL1	NM_004826.4(ECEL1):c.1267G>C:p.Glu423Gln	coding	Benign
2	232484156	G	A	G232484156A	ECEL1	NM_004826.4(ECEL1):c.1252C>T:p.Arg418Cys	coding	Pathogenic
2	232484156	G	T	G232484156T	ECEL1	NM_004826.4(ECEL1):c.1252C>A:p.Arg418Ser	coding	Pathogenic
2	232484198	G	A	G232484198A	ECEL1	NM_004826.4(ECEL1):c.1210C>T:p.Arg404Cys	coding	Pathogenic
2	232484469	T	A	T232484469A	ECEL1	NM_004826.4(ECEL1):c.1184+3A>T	noncoding	Pathogenic
2	232484472	C	T	C232484472T	ECEL1	NM_004826.4(ECEL1):c.1184G>A:p.Arg395Gln	coding	Pathogenic
2	232484509	G	A	G232484509A	ECEL1	NM_004826.4(ECEL1):c.1147C>T:p.Gln383Ter	coding	Pathogenic
2	232484863	G	A	G232484863A	ECEL1	NM_004826.4(ECEL1):c.997C>T:p.Arg333Ter	coding	Pathogenic
2	232484878	G	A	G232484878A	ECEL1	NM_004826.4(ECEL1):c.982C>T:p.His328Tyr	coding	Benign
2	232484900	G	C	G232484900C	ECEL1	NM_004826.4(ECEL1):c.967-7C>G	noncoding	Benign/Likely_benign
2	232485078	T	C	T232485078C	ECEL1	NM_004826.4(ECEL1):c.869A>G:p.Tyr290Cys	coding	Pathogenic
2	232485910	C	G	C232485910G	ECEL1	NM_004826.4(ECEL1):c.744G>C:p.Thr248=	coding	Benign
2	232485934	G	T	G232485934T	ECEL1	NM_004826.4(ECEL1):c.720C>A:p.Ser240Arg	coding	Benign
2	232486064	C	T	C232486064T	ECEL1	NM_004826.4(ECEL1):c.590G>A:p.Gly197Asp	coding	Pathogenic
2	232486228	G	T	G232486228T	ECEL1	NM_004826.4(ECEL1):c.426C>A:p.Asp142Glu	coding	Benign
2	232486243	G	A	G232486243A	ECEL1	NM_004826.4(ECEL1):c.411C>T:p.Arg137=	coding	Benign
2	232486326	G	C	G232486326C	ECEL1	NM_004826.4(ECEL1):c.328C>G:p.Arg110Gly	coding	Benign
2	232486650	C	A	C232486650A	ECEL1	NM_004826.4(ECEL1):c.4G>T:p.Glu2Ter	coding	Pathogenic
2	232520686	G	A	G232520686A	PRSS56	NM_001195129.2(PRSS56):c.88G>A:p.Ala30Thr	coding	Benign
2	232521438	C	G	C232521438G	PRSS56	NM_001195129.2(PRSS56):c.205+10C>G	noncoding	Benign
2	232521442	C	A	C232521442A	PRSS56	NM_001195129.2(PRSS56):c.205+14C>A	noncoding	Benign
2	232521821	G	C	G232521821C	PRSS56	NM_001195129.2(PRSS56):c.211G>C:p.Gly71Arg	coding	Benign
2	232522594	C	G	C232522594G	PRSS56	NM_001195129.2(PRSS56):c.526C>G:p.Arg176Gly	coding	Pathogenic
2	232522755	G	A	G232522755A	PRSS56	NM_001195129.2(PRSS56):c.600G>A:p.Pro200=	coding	Benign
2	232523062	G	A	G232523062A	PRSS56	NM_001195129.2(PRSS56):c.709G>A:p.Gly237Arg	coding	Pathogenic
2	232523492	G	C	G232523492C	PRSS56	NM_001195129.2(PRSS56):c.926G>C:p.Trp309Ser	coding	Pathogenic
2	232523524	G	A	G232523524A	PRSS56	NM_001195129.2(PRSS56):c.958G>A:p.Gly320Arg	coding	Pathogenic
2	232523942	T	C	T232523942C	PRSS56	NM_001195129.2(PRSS56):c.1183T>C:p.Cys395Arg	coding	Pathogenic
2	232524054	C	A	C232524054A	PRSS56	NM_001195129.2(PRSS56):c.1202C>A:p.Ala401Glu	coding	Pathogenic
2	232524103	T	G	T232524103G	PRSS56	NM_001195129.2(PRSS56):c.1251T>G:p.Pro417=	coding	Benign
2	232524854	C	T	C232524854T	PRSS56	NM_001195129.2(PRSS56):c.1521+10C>T	noncoding	Benign
2	232525208	A	G	A232525208G	PRSS56	NM_001195129.2(PRSS56):c.1522-8A>G	noncoding	Benign
2	232525249	G	A	G232525249A	PRSS56	NM_001195129.2(PRSS56):c.1555G>A:p.Gly519Arg	coding	Pathogenic
2	232525489	C	G	C232525489G	PRSS56	NM_001195129.2(PRSS56):c.1795C>G:p.Pro599Ala	coding	Benign
2	232526227	A	G	A232526227G	CHRND	NM_000751.3(CHRND):c.12A>G:p.Pro4=	coding	Benign
2	232526593	C	G	C232526593G	CHRND	NM_000751.3(CHRND):c.117C>G:p.Asn39Lys	coding	Benign
2	232526596	G	A	G232526596A	CHRND	NM_000751.3(CHRND):c.120G>A:p.Lys40=	coding	Benign
2	232526664	T	C	T232526664C	CHRND	NM_000751.3(CHRND):c.188T>C:p.Leu63Pro	coding	Pathogenic
2	232526753	A	G	A232526753G	CHRND	NM_000751.3(CHRND):c.198+79A>G	noncoding	Benign
2	232527436	G	A	G232527436A	CHRND	NM_000751.3(CHRND):c.234G>A:p.Trp78Ter	coding	Pathogenic
2	232527438	T	A	T232527438A	CHRND	NM_000751.3(CHRND):c.236T>A:p.Ile79Lys	coding	Pathogenic
2	232527440	G	A	G232527440A	CHRND	NM_000751.3(CHRND):c.238G>A:p.Glu80Lys	coding	Pathogenic
2	232527445	C	T	C232527445T	CHRND	NM_000751.3(CHRND):c.243C>T:p.His81=	coding	Benign/Likely_benign
2	232528301	T	C	T232528301C	CHRND	NM_000751.3(CHRND):c.283T>C:p.Phe95Leu	coding	Pathogenic
2	232528963	G	T	G232528963T	CHRND	NM_000751.3(CHRND):c.611G>T:p.Gly204Val	coding	Benign
2	232529931	G	A	G232529931A	CHRND	NM_000751.3(CHRND):c.620-8G>A	noncoding	Benign
2	232530131	C	A	C232530131A	CHRND	NM_000751.3(CHRND):c.812C>A:p.Pro271Gln	coding	Pathogenic
2	232531315	G	A	G232531315A	CHRND	NM_000751.3(CHRND):c.821-37G>A	noncoding	Benign
2	232531411	C	T	C232531411T	CHRND	NM_000751.3(CHRND):c.880C>T:p.Leu294Phe	coding	Pathogenic
2	232531665	T	C	T232531665C	CHRND	NM_000751.3(CHRND):c.1047+9T>C	noncoding	Benign
2	232534087	G	A	G232534087A	CHRND	NM_000751.3(CHRND):c.1204G>A:p.Glu402Lys	coding	Pathogenic
2	232534216	G	A	G232534216A	CHRND	NM_000751.3(CHRND):c.1253-8G>A	noncoding	Benign
2	232534349	G	T	G232534349T	CHRND	NM_000751.3(CHRND):c.1371+7G>T	noncoding	Benign
2	232535148	C	T	C232535148T	CHRND	NM_000751.3(CHRND):c.1390C>T:p.Arg464Ter	coding	Pathogenic
2	232535235	G	A	G232535235A	CHRND	NM_000751.3(CHRND):c.1477G>A:p.Val493Ile	coding	Benign
2	232535364	A	G	A232535364G	CHRNG;CHRND	NM_000751.3(CHRND):c.*52A>G	noncoding	Benign/Likely_benign
2	232535736	C	T	C232535736T	CHRND	NM_000751.3(CHRND):c.*424C>T	noncoding	Benign/Likely_benign
2	232535859	G	C	G232535859C	CHRND;CHRNG	NM_000751.3(CHRND):c.*547G>C	noncoding	Benign/Likely_benign
2	232536197	T	C	T232536197C	CHRNG;CHRND	NM_000751.3(CHRND):c.*885T>C	noncoding	Benign/Likely_benign
2	232536337	A	G	A232536337G	CHRND	NM_000751.3(CHRND):c.*1025A>G	noncoding	Benign/Likely_benign
2	232536552	T	C	T232536552C	CHRND	NM_000751.3(CHRND):c.*1240T>C	noncoding	Benign
2	232540072	C	T	C232540072T	CHRNG	NM_005199.5(CHRNG):c.136C>T:p.Arg46Ter	coding	Pathogenic
2	232540080	G	A	G232540080A	CHRNG	NM_005199.5(CHRNG):c.144G>A:p.Ser48=	coding	Benign/Likely_benign
2	232540387	C	T	C232540387T	CHRNG	NM_005199.5(CHRNG):c.202C>T:p.Arg68Ter	coding	Pathogenic/Likely_pathogenic
2	232540597	T	C	T232540597C	CHRNG	NM_005199.5(CHRNG):c.241-5T>C	noncoding	Benign/Likely_benign
2	232540602	C	T	C232540602T	CHRNG	NM_005199.5(CHRNG):c.241C>T:p.Gln81Ter	coding	Pathogenic
2	232540617	C	T	C232540617T	CHRNG	NM_005199.5(CHRNG):c.256C>T:p.Arg86Cys	coding	Pathogenic/Likely_pathogenic
2	232540635	C	T	C232540635T	CHRNG	NM_005199.5(CHRNG):c.274C>T:p.Arg92Ter	coding	Pathogenic
2	232540681	T	G	T232540681G	CHRNG	NM_005199.5(CHRNG):c.320T>G:p.Val107Gly	coding	Pathogenic
2	232541451	C	G	C232541451G	CHRNG	NM_005199.5(CHRNG):c.428C>G:p.Pro143Arg	coding	Pathogenic
2	232541468	G	A	G232541468A	CHRND;CHRNG	NM_005199.5(CHRNG):c.445G>A:p.Ala149Thr	coding	Benign/Likely_benign
2	232542410	C	T	C232542410T	CHRNG	NM_005199.5(CHRNG):c.507-13C>T	noncoding	Benign/Likely_benign
2	232542992	C	T	C232542992T	CHRNG	NM_005199.5(CHRNG):c.715C>T:p.Arg239Cys	coding	Pathogenic/Likely_pathogenic
2	232543573	C	T	C232543573T	CHRNG	NM_005199.5(CHRNG):c.921-12C>T	noncoding	Benign
2	232543724	A	C	A232543724C	CHRNG	NM_005199.5(CHRNG):c.1035+25A>C	noncoding	Benign
2	232543748	C	T	C232543748T	CHRNG	NM_005199.5(CHRNG):c.1035+49C>T	noncoding	Benign
2	232544474	G	A	G232544474A	CHRNG	NM_005199.5(CHRNG):c.1143G>A:p.Trp381Ter	coding	Pathogenic
2	232544541	C	T	C232544541T	CHRNG	NM_005199.5(CHRNG):c.1210C>T:p.Gln404Ter	coding	Pathogenic
2	232545570	C	T	C232545570T	CHRNG	NM_005199.5(CHRNG):c.1408C>T:p.Arg470Ter	coding	Pathogenic
2	232545584	C	T	C232545584T	CHRNG	NM_005199.5(CHRNG):c.1422C>T:p.Arg474=	coding	Benign
2	232545793	T	C	T232545793C	CHRNG	NM_005199.5(CHRNG):c.*77T>C	noncoding	Benign/Likely_benign
2	232546193	C	A	C232546193A	CHRNG	NM_005199.5(CHRNG):c.*477C>A	noncoding	Benign/Likely_benign
2	232546212	A	G	A232546212G	CHRNG	NM_005199.5(CHRNG):c.*496A>G	noncoding	Benign
2	232546284	C	T	C232546284T	CHRNG	NM_005199.5(CHRNG):c.*568C>T	noncoding	Benign
2	232766352	T	C	T232766352C	KCNJ13	NM_002242.4(KCNJ13):c.*1839A>G	coding	Benign
2	232768056	T	C	T232768056C	KCNJ13	NM_002242.4(KCNJ13):c.*135A>G	coding	Benign
2	232768552	A	G	A232768552G	KCNJ13	NM_002242.4(KCNJ13):c.722T>C:p.Leu241Pro	coding	Pathogenic
2	232768619	G	A	G232768619A	KCNJ13	NM_002242.4(KCNJ13):c.655C>T:p.Gln219Ter	coding	Pathogenic
2	232768750	G	A	G232768750A	KCNJ13	NM_002242.4(KCNJ13):c.524C>T:p.Thr175Ile	coding	Benign
2	232768778	G	A	G232768778A	KCNJ13	NM_002242.4(KCNJ13):c.496C>T:p.Arg166Ter	coding	Pathogenic
2	232768790	G	A	G232768790A	KCNJ13	NM_002242.4(KCNJ13):c.484C>T:p.Arg162Trp	coding	Pathogenic
2	232771004	A	G	A232771004G	KCNJ13	NM_002242.4(KCNJ13):c.359T>C:p.Ile120Thr	coding	Pathogenic/Likely_pathogenic
2	232771205	C	T	C232771205T	KCNJ13	NM_002242.4(KCNJ13):c.158G>A:p.Trp53Ter	coding	Pathogenic
2	232796136	G	A	G232796136A	GIGYF2	NM_015575.4(GIGYF2):c.1554G>A:p.Glu518=	coding	Benign
2	232844096	A	G	A232844096G	GIGYF2	NM_015575.4(GIGYF2):c.2940A>G:p.Gln980=	coding	Benign
2	232847339	G	A	G232847339A	GIGYF2	NM_015575.4(GIGYF2):c.3461-9G>A	noncoding	Benign
2	232847538	G	A	G232847538A	GIGYF2	NM_015575.4(GIGYF2):c.3651G>A:p.Pro1217=	coding	Benign
2	232847586	G	A	G232847586A	GIGYF2	NM_015575.4(GIGYF2):c.3684+15G>A	noncoding	Benign
2	232891481	C	T	C232891481T	NGEF	NM_019850.3(NGEF):c.1149G>A:p.Glu383=	coding	Benign
2	233274722	A	G	A233274722G	ATG16L1	NM_030803.7(ATG16L1):c.898A>G:p.Thr300Ala	coding	Benign
2	233294314	C	T	C233294314T	ATG16L1	NM_030803.7(ATG16L1):c.1788C>T:p.Asp596=	coding	Benign
2	233309264	G	A	G233309264A	SAG	NM_000541.5(SAG):c.75G>A:p.Ser25=	coding	Pathogenic
2	233316092	G	A	G233316092A	SAG	NM_000541.5(SAG):c.93G>A:p.Gly31=	coding	Benign
2	233316137	T	G	T233316137G	SAG	NM_000541.5(SAG):c.136+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	233316139	A	G	A233316139G	SAG	NM_000541.5(SAG):c.136+4A>G	noncoding	Benign
2	233320649	C	T	C233320649T	SAG	NM_000541.5(SAG):c.201C>T:p.Cys67=	coding	Benign/Likely_benign
2	233320674	A	G	A233320674G	SAG	NM_000541.5(SAG):c.226A>G:p.Ile76Val	coding	Benign
2	233320769	G	C	G233320769C	SAG	NM_000541.5(SAG):c.321G>C:p.Leu107=	coding	Benign
2	233320834	C	T	C233320834T	SAG	NM_000541.5(SAG):c.375+11C>T	noncoding	Benign/Likely_benign
2	233327103	G	C	G233327103C	SAG	NM_000541.5(SAG):c.436-18G>C	noncoding	Benign
2	233327174	C	T	C233327174T	SAG	NM_000541.5(SAG):c.489C>T:p.Ala163=	coding	Benign
2	233328488	C	T	C233328488T	SAG	NM_000541.5(SAG):c.523C>T:p.Arg175Ter	coding	Pathogenic
2	233328536	C	T	C233328536T	SAG	NM_000541.5(SAG):c.571C>T:p.Gln191Ter	coding	Pathogenic
2	233328542	C	T	C233328542T	SAG	NM_000541.5(SAG):c.577C>T:p.Arg193Ter	coding	Pathogenic
2	233328614	G	C	G233328614C	SAG	NM_000541.5(SAG):c.648+1G>C	coding	Pathogenic
2	233335029	C	T	C233335029T	SAG	NM_000541.5(SAG):c.874C>T:p.Arg292Ter	coding	Pathogenic
2	233335071	G	T	G233335071T	SAG	NM_000541.5(SAG):c.916G>T:p.Glu306Ter	coding	Pathogenic
2	233342258	T	C	T233342258C	SAG	NM_000541.5(SAG):c.1047-13T>C	noncoding	Benign
2	233346401	A	C	A233346401C	SAG	NM_000541.5(SAG):c.1103-2A>C	noncoding	Pathogenic
2	233346901	G	A	G233346901A	SAG	NM_000541.5(SAG):c.1207G>A:p.Val403Ile	coding	Benign
2	233346902	T	C	T233346902C	SAG	NM_000541.5(SAG):c.1208T>C:p.Val403Ala	coding	Benign
2	233346919	C	T	C233346919T	SAG	NM_000541.5(SAG):c.*7C>T	noncoding	Benign
2	233347001	C	T	C233347001T	SAG	NM_000541.5(SAG):c.*89C>T	noncoding	Benign/Likely_benign
2	233441962	C	T	C233441962T	DGKD	NM_152879.3(DGKD):c.1161C>T:p.Leu387=	coding	Benign
2	233445646	C	T	C233445646T	DGKD	NM_152879.3(DGKD):c.1218C>T:p.Leu406=	coding	Benign
2	233448385	C	T	C233448385T	DGKD	NM_152879.3(DGKD):c.1614+10C>T	noncoding	Benign
2	233449192	C	G	C233449192G	DGKD	NM_152879.3(DGKD):c.1704C>G:p.Pro568=	coding	Benign
2	233451017	C	T	C233451017T	DGKD	NM_152879.3(DGKD):c.2134C>T:p.Leu712=	coding	Benign
2	233454883	A	G	A233454883G	DGKD	NM_152879.3(DGKD):c.2375+10A>G	noncoding	Benign
2	233468417	C	T	C233468417T	DGKD	NM_152879.3(DGKD):c.3425-6C>T	noncoding	Benign
2	233551502	C	T	C233551502T	USP40	NM_018218.3(USP40):c.711G>A:p.Lys237=	coding	Benign
2	233556972	G	A	G233556972A	USP40	NM_018218.3(USP40):c.429C>T:p.Ser143=	coding	Benign
2	233637119	T	C	T233637119C	UGT1A10	NM_019075.2(UGT1A10):c.597T>C:p.Asp199=	coding	Benign
2	233672159	G	A	G233672159A	UGT1A9	NM_021027.3(UGT1A9):c.225G>A:p.Lys75=	coding	Benign
2	233681970	C	A	C233681970A	UGT1A7	NM_021027.3(UGT1A9):c.855+9181C>A	coding	Benign
2	233682324	T	G	T233682324G	UGT1A7	NM_021027.3(UGT1A9):c.855+9535T>G	coding	Benign
2	233682328	C	A	C233682328A	UGT1A7	NM_021027.3(UGT1A9):c.855+9539C>A	coding	Benign
2	233682329	G	A	G233682329A	UGT1A7	NM_021027.3(UGT1A9):c.855+9540G>A	coding	Benign
2	233682559	T	C	T233682559C	UGT1A7	NM_021027.3(UGT1A9):c.855+9770T>C	coding	Benign
2	233682693	G	A	G233682693A	UGT1A7	NM_021027.3(UGT1A9):c.855+9904G>A	coding	Benign
2	233693023	T	G	T233693023G	UGT1A6	NM_001072.4(UGT1A6):c.19T>G:p.Ser7Ala	coding	Benign
2	233693109	C	T	C233693109T	UGT1A;UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A9	NM_001072.4(UGT1A6):c.105C>T:p.Asp35=	coding	Benign
2	233693319	A	G	A233693319G	UGT1A6	NM_001072.4(UGT1A6):c.315A>G:p.Leu105=	coding	Benign
2	233693545	A	G	A233693545G	UGT1A6	NM_001072.4(UGT1A6):c.541A>G:p.Thr181Ala	coding	Benign
2	233693556	A	C	A233693556C	UGT1A6	NM_001072.4(UGT1A6):c.552A>C:p.Arg184Ser	coding	Benign
2	233693631	G	T	G233693631T	UGT1A6	NM_001072.4(UGT1A6):c.627G>T:p.Val209=	coding	Benign
2	233713733	C	A	C233713733A	UGT1A5	NM_001072.4(UGT1A6):c.861+19868C>A	coding	Benign
2	233713736	G	C	G233713736C	UGT1A5	NM_001072.4(UGT1A6):c.861+19871G>C	coding	Benign
2	233713766	G	C	G233713766C	UGT1A5	NM_001072.4(UGT1A6):c.861+19901G>C	coding	Benign
2	233713774	T	C	T233713774C	UGT1A5	NM_001072.4(UGT1A6):c.861+19909T>C	coding	Benign
2	233713840	C	T	C233713840T	UGT1A5	NM_001072.4(UGT1A6):c.861+19975C>T	coding	Benign
2	233743622	C	T	C233743622T	DNAJB3	NM_001072.4(UGT1A6):c.862-23412C>T	coding	Benign
2	233760331	T	G	T233760331G	UGT1A1	NM_000463.3(UGT1A1):c.44T>G:p.Leu15Arg	coding	Pathogenic
2	233760432	C	T	C233760432T	UGT1A1	NM_001072.4(UGT1A6):c.862-6602C>T	coding	Pathogenic
2	233760509	C	A	C233760509A	UGT1A1	NM_001072.4(UGT1A6):c.862-6525C>A	coding	Pathogenic
2	233760912	C	T	C233760912T	UGT1A1	NM_001072.4(UGT1A6):c.862-6122C>T	coding	Pathogenic/Likely_pathogenic
2	233761127	C	A	C233761127A	UGT1A1	NM_001072.4(UGT1A6):c.862-5907C>A	coding	Pathogenic
2	233761152	G	C	G233761152C	UGT1A1	NM_001072.4(UGT1A6):c.862-5882G>C	coding	Pathogenic
2	233764076	T	G	T233764076G	UGT1A1	NM_000463.3(UGT1A1):c.864+2925T>G	noncoding	Benign
2	233767092	G	A	G233767092A	UGT1A1	NM_001072.4(UGT1A6):c.920G>A:p.Gly307Glu	coding	Pathogenic
2	233767160	C	T	C233767160T	UGT1A1	NM_000463.3(UGT1A1):c.991C>T:p.Gln331Ter	coding	Pathogenic
2	233767161	A	G	A233767161G	UGT1A1	NM_000463.3(UGT1A1):c.992A>G:p.Gln331Arg	coding	Pathogenic
2	233767858	C	T	C233767858T	UGT1A1	NM_001072.4(UGT1A6):c.1003C>T:p.Arg335Trp	coding	Pathogenic
2	233767873	C	T	C233767873T	UGT1A1	NM_000463.3(UGT1A1):c.1021C>T:p.Arg341Ter	coding	Pathogenic
2	233767921	C	T	C233767921T	UGT1A1	NM_001072.4(UGT1A6):c.1066C>T:p.Gln356Ter	coding	Pathogenic
2	233767922	A	G	A233767922G	UGT1A1	NM_000463.3(UGT1A1):c.1070A>G:p.Gln357Arg	coding	Pathogenic
2	233767937	G	T	G233767937T	UGT1A1	NM_001072.4(UGT1A6):c.1081+1G>T	coding	Pathogenic
2	233768218	A	G	A233768218G	UGT1A1	NM_001072.4(UGT1A6):c.1082-2A>G	noncoding	Pathogenic
2	233768259	C	T	C233768259T	UGT1A1	NM_001072.4(UGT1A6):c.1121C>T:p.Ser374Phe	coding	Pathogenic
2	233772413	T	G	T233772413G	UGT1A1	NM_001072.4(UGT1A6):c.1453T>G:p.Tyr485Asp	coding	Pathogenic/Likely_pathogenic
2	233772770	T	C	T233772770C	UGT1A1	NM_001072.4(UGT1A6):c.*211T>C	noncoding	Benign/Likely_benign
2	233772898	G	C	G233772898C	UGT1A1	NM_001072.4(UGT1A6):c.*339G>C	noncoding	Benign/Likely_benign
2	233772999	G	C	G233772999C	UGT1A1	NM_001072.4(UGT1A6):c.*440G>C	noncoding	Benign/Likely_benign
2	233805011	G	A	G233805011A	MROH2A	NM_001367507.1(MROH2A):c.1952G>A:p.Arg651Gln	coding	Benign
2	233942727	C	G	C233942727G	TRPM8	NM_024080.5(TRPM8):c.678C>G:p.Leu226=	coding	Benign
2	233954006	C	T	C233954006T	TRPM8	NM_024080.5(TRPM8):c.1230C>T:p.Tyr410=	coding	Benign
2	233955260	A	C	A233955260C	TRPM8	NM_024080.5(TRPM8):c.1362+10A>C	noncoding	Benign
2	233960798	T	C	T233960798C	TRPM8	NM_024080.5(TRPM8):c.1385T>C:p.Met462Thr	coding	Benign
2	233961048	G	A	G233961048A	TRPM8	NM_024080.5(TRPM8):c.1635G>A:p.Glu545=	coding	Benign
2	233981788	A	G	A233981788G	TRPM8	NM_024080.5(TRPM8):c.2462A>G:p.Asn821Ser	coding	Benign
2	233983211	C	A	C233983211A	TRPM8	NM_024080.5(TRPM8):c.2748C>A:p.Pro916=	coding	Benign
2	234051059	G	T	G234051059T	SPP2	NM_006944.3(SPP2):c.174G>T:p.Pro58=	coding	Benign
2	234496004	C	A	C234496004A	ARL4C	NM_001282431.2(ARL4C):c.575+8G>T	coding	Benign
2	235041540	C	A	C235041540A	SH3BP4	NM_014521.3(SH3BP4):c.771C>A:p.Ser257=	coding	Benign
2	235042179	C	T	C235042179T	SH3BP4	NM_014521.3(SH3BP4):c.1410C>T:p.Ile470=	coding	Benign
2	235042239	G	A	G235042239A	SH3BP4	NM_014521.3(SH3BP4):c.1470G>A:p.Thr490=	coding	Benign
2	235042284	G	C	G235042284C	SH3BP4	NM_014521.3(SH3BP4):c.1515G>C:p.Leu505=	coding	Benign
2	235043115	G	A	G235043115A	SH3BP4	NM_014521.3(SH3BP4):c.2346G>A:p.Pro782=	coding	Benign
2	235053808	G	A	G235053808A	SH3BP4	NM_014521.3(SH3BP4):c.2884G>A:p.Val962Met	coding	Benign
2	235741027	A	G	A235741027G	AGAP1	NM_001037131.3(AGAP1):c.375A>G:p.Glu125=	coding	Benign
2	235744805	G	A	G235744805A	AGAP1	NM_001037131.3(AGAP1):c.504G>A:p.Thr168=	coding	Benign
2	236123930	C	T	C236123930T	AGAP1	NM_001037131.3(AGAP1):c.2382C>T:p.Asp794=	coding	Benign
2	236166184	C	T	C236166184T	GBX2	NM_001485.4(GBX2):c.777G>A:p.Leu259=	coding	Benign
2	236167612	C	G	C236167612G	GBX2	NM_001485.4(GBX2):c.360G>C:p.Glu120Asp	coding	Benign
2	236581068	C	T	C236581068T	ACKR3	NM_020311.3(ACKR3):c.603C>T:p.Pro201=	coding	Benign
2	236581095	C	T	C236581095T	ACKR3	NM_020311.3(ACKR3):c.630C>T:p.Ile210=	coding	Benign
2	236581153	G	A	G236581153A	ACKR3	NM_020311.3(ACKR3):c.688G>A:p.Val230Ile	coding	Benign
2	237324109	C	A	C237324109A	COL6A3	NM_004369.3(COL6A3):c.*665G>T	noncoding	Benign
2	237324111	A	C	A237324111C	COL6A3	NM_004369.3(COL6A3):c.*663T>G	noncoding	Benign
2	237324168	T	A	T237324168A	COL6A3	NM_004369.3(COL6A3):c.*606A>T	noncoding	Benign
2	237324767	C	G	C237324767G	COL6A3	NM_004369.4(COL6A3):c.*7G>C	noncoding	Benign
2	237324840	G	A	G237324840A	COL6A3	NM_004369.3(COL6A3):c.9494-26C>T	noncoding	Benign
2	237325022	T	A	T237325022A	COL6A3	NM_004369.3(COL6A3):c.9494-208A>T	noncoding	Benign
2	237325642	A	G	A237325642G	COL6A3	NM_004369.3(COL6A3):c.9411T>C:p.Cys3137=	coding	Benign/Likely_benign
2	237325728	T	A	T237325728A	COL6A3	NM_004369.3(COL6A3):c.9329-4A>T	noncoding	Benign/Likely_benign
2	237333533	G	C	G237333533C	COL6A3	NM_004369.3(COL6A3):c.9245C>G:p.Pro3082Arg	coding	Benign/Likely_benign
2	237333751	G	A	G237333751A	COL6A3	NM_004369.3(COL6A3):c.9230-203C>T	noncoding	Benign
2	237334381	A	T	A237334381T	COL6A3	NM_004369.3(COL6A3):c.9229+245T>A	noncoding	Benign
2	237334642	G	A	G237334642A	COL6A3	NM_004369.3(COL6A3):c.9213C>T:p.His3071=	coding	Benign
2	237334649	G	A	G237334649A	COL6A3	NM_004369.3(COL6A3):c.9206C>T:p.Thr3069Ile	coding	Benign
2	237334662	G	A	G237334662A	COL6A3	NM_004369.3(COL6A3):c.9193C>T:p.Gln3065Ter	coding	Pathogenic
2	237334707	C	T	C237334707T	COL6A3	NM_004369.3(COL6A3):c.9148G>A:p.Ala3050Thr	coding	Benign
2	237334726	G	A	G237334726A	COL6A3	NM_004369.3(COL6A3):c.9129C>T:p.Arg3043=	coding	Benign
2	237334732	C	T	C237334732T	COL6A3	NM_004369.3(COL6A3):c.9123G>A:p.Thr3041=	coding	Benign
2	237334786	G	A	G237334786A	COL6A3	NM_004369.3(COL6A3):c.9069C>T:p.Thr3023=	coding	Benign/Likely_benign
2	237334821	C	G	C237334821G	COL6A3	NM_004369.3(COL6A3):c.9034G>C:p.Ala3012Pro	coding	Benign
2	237334824	T	C	T237334824C	COL6A3	NM_004369.4(COL6A3):c.9031A>G:p.Arg3011Gly	coding	Benign
2	237334838	T	C	T237334838C	COL6A3	NM_004369.3(COL6A3):c.9017A>G:p.Lys3006Arg	coding	Benign/Likely_benign
2	237334843	G	A	G237334843A	COL6A3	NM_004369.3(COL6A3):c.9012C>T:p.Ser3004=	coding	Benign/Likely_benign
2	237334890	C	G	C237334890G	COL6A3	NM_004369.3(COL6A3):c.8966-1G>C	coding	Pathogenic
2	237335013	C	T	C237335013T	COL6A3	NM_004369.3(COL6A3):c.8966-124G>A	noncoding	Benign
2	237335207	G	T	G237335207T	COL6A3	NM_004369.3(COL6A3):c.8966-318C>A	noncoding	Benign
2	237335210	C	G	C237335210G	COL6A3	NM_004369.3(COL6A3):c.8966-321G>C	noncoding	Benign
2	237335833	C	T	C237335833T	COL6A3	NM_004369.3(COL6A3):c.8965+302G>A	noncoding	Benign
2	237335883	A	G	A237335883G	COL6A3	NM_004369.3(COL6A3):c.8965+252T>C	noncoding	Benign
2	237335932	T	C	T237335932C	COL6A3	NM_004369.3(COL6A3):c.8965+203A>G	noncoding	Benign
2	237336138	T	C	T237336138C	COL6A3	NM_004369.3(COL6A3):c.8962A>G:p.Met2988Val	coding	Benign
2	237336278	G	A	G237336278A	COL6A3	NM_004369.3(COL6A3):c.8822C>T:p.Ala2941Val	coding	Benign/Likely_benign
2	237336280	C	T	C237336280T	COL6A3	NM_004369.3(COL6A3):c.8820G>A:p.Thr2940=	coding	Benign
2	237336296	G	A	G237336296A	COL6A3	NM_004369.3(COL6A3):c.8804C>T:p.Ala2935Val	coding	Benign/Likely_benign
2	237336320	A	G	A237336320G	COL6A3	NM_004369.3(COL6A3):c.8780T>C:p.Met2927Thr	coding	Benign
2	237336355	C	T	C237336355T	COL6A3	NM_004369.3(COL6A3):c.8745G>A:p.Ala2915=	coding	Benign
2	237336365	G	A	G237336365A	COL6A3	NM_004369.3(COL6A3):c.8735C>T:p.Pro2912Leu	coding	Benign
2	237336528	C	T	C237336528T	COL6A3	NM_004369.3(COL6A3):c.8572G>A:p.Val2858Ile	coding	Benign/Likely_benign
2	237339091	C	G	C237339091G	COL6A3	NM_004369.3(COL6A3):c.8491G>C:p.Asp2831His	coding	Benign
2	237339151	G	A	G237339151A	COL6A3	NM_004369.3(COL6A3):c.8465-34C>T	noncoding	Benign
2	237340210	G	A	G237340210A	COL6A3	NM_004369.3(COL6A3):c.8464+242C>T	noncoding	Benign
2	237340256	A	T	A237340256T	COL6A3	NM_004369.3(COL6A3):c.8464+196T>A	noncoding	Benign
2	237340458	C	T	C237340458T	COL6A3	NM_004369.3(COL6A3):c.8458G>A:p.Val2820Ile	coding	Benign/Likely_benign
2	237340465	T	C	T237340465C	COL6A3	NM_004369.3(COL6A3):c.8451A>G:p.Pro2817=	coding	Benign
2	237340531	G	A	G237340531A	COL6A3	NM_004369.3(COL6A3):c.8385C>T:p.Phe2795=	coding	Benign
2	237340570	C	T	C237340570T	COL6A3	NM_004369.3(COL6A3):c.8346G>A:p.Glu2782=	coding	Benign/Likely_benign
2	237340635	G	A	G237340635A	COL6A3	NM_004369.4(COL6A3):c.8281C>T:p.Gln2761Ter	coding	Pathogenic
2	237340771	T	C	T237340771C	COL6A3	NM_004369.3(COL6A3):c.8145A>G:p.Leu2715=	coding	Benign
2	237340819	C	T	C237340819T	COL6A3	NM_004369.3(COL6A3):c.8097G>A:p.Val2699=	coding	Benign/Likely_benign
2	237340906	C	T	C237340906T	COL6A3	NM_004369.3(COL6A3):c.8010G>A:p.Ala2670=	coding	Benign
2	237340909	G	A	G237340909A	COL6A3	NM_004369.3(COL6A3):c.8007C>T:p.His2669=	coding	Benign/Likely_benign
2	237340921	T	G	T237340921G	COL6A3	NM_004369.3(COL6A3):c.7995A>C:p.Ala2665=	coding	Benign
2	237340987	C	T	C237340987T	COL6A3	NM_004369.3(COL6A3):c.7929G>A:p.Ala2643=	coding	Benign
2	237340988	G	A	G237340988A	COL6A3	NM_004369.3(COL6A3):c.7928C>T:p.Ala2643Val	coding	Benign/Likely_benign
2	237341074	G	A	G237341074A	COL6A3	NM_004369.3(COL6A3):c.7842C>T:p.Ser2614=	coding	Benign
2	237341137	G	A	G237341137A	COL6A3	NM_004369.3(COL6A3):c.7779C>T:p.Ile2593=	coding	Benign/Likely_benign
2	237341413	G	A	G237341413A	COL6A3	NM_004369.3(COL6A3):c.7766-263C>T	noncoding	Benign
2	237342196	G	A	G237342196A	COL6A3	NM_004369.3(COL6A3):c.7669-35C>T	noncoding	Benign
2	237342392	T	G	T237342392G	COL6A3	NM_004369.3(COL6A3):c.7669-231A>C	noncoding	Benign
2	237344329	C	G	C237344329G	COL6A3	NM_004369.3(COL6A3):c.7668+21G>C	noncoding	Benign/Likely_benign
2	237344352	G	A	G237344352A	COL6A3	NM_004369.4(COL6A3):c.7666C>T:p.Gln2556Ter	coding	Pathogenic
2	237344373	G	A	G237344373A	COL6A3	NM_004369.4(COL6A3):c.7645C>T:p.Arg2549Trp	coding	Benign
2	237344422	C	T	C237344422T	COL6A3	NM_004369.3(COL6A3):c.7596G>A:p.Lys2532=	coding	Benign
2	237344506	G	A	G237344506A	COL6A3	NM_004369.3(COL6A3):c.7512C>T:p.Asn2504=	coding	Benign
2	237344509	C	T	C237344509T	COL6A3	NM_004369.3(COL6A3):c.7509G>A:p.Arg2503=	coding	Benign
2	237344618	G	A	G237344618A	COL6A3	NM_004369.3(COL6A3):c.7400C>T:p.Ser2467Leu	coding	Benign/Likely_benign
2	237344659	C	T	C237344659T	COL6A3	NM_004369.3(COL6A3):c.7359G>A:p.Glu2453=	coding	Benign/Likely_benign
2	237344689	G	A	G237344689A	COL6A3	NM_004369.3(COL6A3):c.7329C>T:p.Ala2443=	coding	Benign
2	237344710	C	T	C237344710T	COL6A3	NM_004369.3(COL6A3):c.7308G>A:p.Glu2436=	coding	Benign/Likely_benign
2	237344875	C	T	C237344875T	COL6A3	NM_004369.3(COL6A3):c.7175-32G>A	noncoding	Benign
2	237345010	C	T	C237345010T	COL6A3	NM_004369.3(COL6A3):c.7162+48G>A	noncoding	Benign
2	237345456	G	C	G237345456C	COL6A3	NM_004369.3(COL6A3):c.7093-243C>G	noncoding	Benign
2	237346477	C	T	C237346477T	COL6A3	NM_004369.3(COL6A3):c.7092+26G>A	noncoding	Benign
2	237346509	T	G	T237346509G	COL6A3	NM_004369.3(COL6A3):c.7086A>C:p.Gly2362=	coding	Benign
2	237346642	G	A	G237346642A	COL6A3	NM_004369.3(COL6A3):c.7030-77C>T	noncoding	Benign
2	237347528	C	T	C237347528T	COL6A3	NM_004369.3(COL6A3):c.7029+279G>A	noncoding	Benign
2	237347536	C	T	C237347536T	COL6A3	NM_004369.3(COL6A3):c.7029+271G>A	noncoding	Benign
2	237347812	G	A	G237347812A	COL6A3	NM_004369.3(COL6A3):c.7024C>T:p.Arg2342Ter	coding	Pathogenic
2	237347855	T	C	T237347855C	COL6A3	NM_004369.3(COL6A3):c.6981A>G:p.Glu2327=	coding	Benign
2	237347864	G	A	G237347864A	COL6A3	NM_004369.3(COL6A3):c.6972C>T:p.Asn2324=	coding	Benign/Likely_benign
2	237347929	T	C	T237347929C	COL6A3	NM_004369.3(COL6A3):c.6967-60A>G	noncoding	Benign
2	237348182	G	A	G237348182A	COL6A3	NM_004369.3(COL6A3):c.6966+167C>T	noncoding	Benign
2	237348370	G	A	G237348370A	COL6A3	NM_004369.3(COL6A3):c.6945C>T:p.Phe2315=	coding	Benign
2	237348484	C	A	C237348484A	COL6A3	NM_004369.3(COL6A3):c.6931-100G>T	noncoding	Benign
2	237348570	C	G	C237348570G	COL6A3	NM_004369.3(COL6A3):c.6930+43G>C	noncoding	Benign
2	237348585	G	A	G237348585A	COL6A3	NM_004369.3(COL6A3):c.6930+28C>T	noncoding	Benign
2	237348608	C	T	C237348608T	COL6A3	NM_004369.4(COL6A3):c.6930+5G>A	noncoding	Pathogenic
2	237348710	A	G	A237348710G	COL6A3	NM_004369.3(COL6A3):c.6880-47T>C	noncoding	Benign
2	237348891	T	C	T237348891C	COL6A3	NM_004369.3(COL6A3):c.6880-228A>G	noncoding	Benign
2	237350132	G	A	G237350132A	COL6A3	NM_004369.3(COL6A3):c.6879+15C>T	noncoding	Benign
2	237350171	C	G	C237350171G	COL6A3	NM_004369.3(COL6A3):c.6855G>C:p.Gly2285=	coding	Benign
2	237350208	C	G	C237350208G	COL6A3	NM_004369.4(COL6A3):c.6818G>C:p.Gly2273Ala	coding	Benign
2	237350473	C	T	C237350473T	COL6A3	NM_004369.3(COL6A3):c.6817-264G>A	noncoding	Benign
2	237351032	G	A	G237351032A	COL6A3	NM_004369.3(COL6A3):c.6816+98C>T	noncoding	Benign
2	237352469	G	A	G237352469A	COL6A3	NM_004369.3(COL6A3):c.6753+53C>T	noncoding	Benign
2	237352470	C	A	C237352470A	COL6A3	NM_004369.3(COL6A3):c.6753+52G>T	noncoding	Benign
2	237352524	G	A	G237352524A	COL6A3	NM_004369.3(COL6A3):c.6751C>T:p.Arg2251Trp	coding	Benign/Likely_benign
2	237352699	C	T	C237352699T	COL6A3	NM_004369.3(COL6A3):c.6691-115G>A	noncoding	Benign
2	237353101	T	C	T237353101C	COL6A3	NM_004369.3(COL6A3):c.6690+240A>G	noncoding	Benign
2	237353103	T	G	T237353103G	COL6A3	NM_004369.3(COL6A3):c.6690+238A>C	noncoding	Benign
2	237353207	T	C	T237353207C	COL6A3	NM_004369.3(COL6A3):c.6690+134A>G	noncoding	Benign
2	237353378	G	A	G237353378A	COL6A3	NM_004369.3(COL6A3):c.6653C>T:p.Pro2218Leu	coding	Benign
2	237353636	G	A	G237353636A	COL6A3	NM_004369.3(COL6A3):c.6628-233C>T	noncoding	Benign
2	237354908	G	A	G237354908A	COL6A3	NM_004369.3(COL6A3):c.6618C>T:p.Pro2206=	coding	Benign/Likely_benign
2	237354922	G	A	G237354922A	COL6A3	NM_004369.3(COL6A3):c.6604C>T:p.Arg2202Ter	coding	Pathogenic
2	237354950	T	A	T237354950A	COL6A3	NM_004369.3(COL6A3):c.6592-16A>T	noncoding	Benign
2	237357041	C	T	C237357041T	COL6A3	NM_004369.3(COL6A3):c.6591+297G>A	noncoding	Benign
2	237357503	C	T	C237357503T	COL6A3	NM_004369.3(COL6A3):c.6538-112G>A	noncoding	Benign
2	237357605	G	C	G237357605C	COL6A3	NM_004369.3(COL6A3):c.6537+212C>G	noncoding	Benign
2	237357990	G	A	G237357990A	COL6A3	NM_004369.3(COL6A3):c.6472-108C>T	noncoding	Benign
2	237358415	G	A	G237358415A	COL6A3	NM_004369.3(COL6A3):c.6471+106C>T	noncoding	Benign
2	237358944	G	A	G237358944A	COL6A3	NM_004369.3(COL6A3):c.6408+91C>T	noncoding	Benign
2	237358991	T	C	T237358991C	COL6A3	NM_004369.3(COL6A3):c.6408+44A>G	noncoding	Benign/Likely_benign
2	237359074	C	T	C237359074T	COL6A3	NM_004369.3(COL6A3):c.6369G>A:p.Leu2123=	coding	Benign
2	237359205	C	A	C237359205A	COL6A3	NM_004369.3(COL6A3):c.6354+1G>T	noncoding	Pathogenic
2	237359205	C	T	C237359205T	COL6A3	NM_004369.3(COL6A3):c.6354+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	237359252	T	C	T237359252C	COL6A3	NM_004369.3(COL6A3):c.6310-2A>G	noncoding	Pathogenic
2	237359359	T	C	T237359359C	COL6A3	NM_004369.3(COL6A3):c.6309+3A>G	noncoding	Pathogenic
2	237359361	C	A	C237359361A	COL6A3	NM_004369.3(COL6A3):c.6309+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	237359361	C	T	C237359361T	COL6A3	NM_004369.3(COL6A3):c.6309+1G>A	noncoding	Pathogenic
2	237359362	C	T	C237359362T	COL6A3	NM_004369.3(COL6A3):c.6309G>A:p.Lys2103=	coding	Pathogenic
2	237359378	C	A	C237359378A	COL6A3	NM_004369.3(COL6A3):c.6293G>T:p.Gly2098Val	coding	Pathogenic
2	237359811	A	C	A237359811C	COL6A3	NM_004369.3(COL6A3):c.6282+277T>G	noncoding	Benign
2	237360038	G	A	G237360038A	COL6A3	NM_004369.3(COL6A3):c.6282+50C>T	noncoding	Benign
2	237360087	C	T	C237360087T	COL6A3	NM_004369.3(COL6A3):c.6282+1G>A	noncoding	Pathogenic
2	237360131	C	T	C237360131T	COL6A3	NM_004369.3(COL6A3):c.6239G>A:p.Gly2080Asp	coding	Pathogenic
2	237360132	C	G	C237360132G	COL6A3	NM_004369.3(COL6A3):c.6238G>C:p.Gly2080Arg	coding	Pathogenic
2	237360140	C	A	C237360140A	COL6A3	NM_004369.3(COL6A3):c.6230G>T:p.Gly2077Val	coding	Pathogenic
2	237360140	C	T	C237360140T	COL6A3	NM_004369.3(COL6A3):c.6230G>A:p.Gly2077Asp	coding	Pathogenic
2	237360150	C	T	C237360150T	COL6A3	NM_004369.3(COL6A3):c.6220G>A:p.Gly2074Ser	coding	Pathogenic
2	237360162	G	A	G237360162A	COL6A3	NM_004369.3(COL6A3):c.6211-3C>T	noncoding	Benign
2	237360949	A	G	A237360949G	COL6A3	NM_004369.3(COL6A3):c.6210+172T>C	noncoding	Benign
2	237361120	C	T	C237361120T	COL6A3	NM_004369.3(COL6A3):c.6210+1G>A	noncoding	Pathogenic
2	237361138	C	G	C237361138G	COL6A3	NM_004369.3(COL6A3):c.6193G>C:p.Gly2065Arg	coding	Pathogenic/Likely_pathogenic
2	237361150	G	A	G237361150A	COL6A3	NM_004369.3(COL6A3):c.6181C>T:p.Arg2061Ter	coding	Pathogenic
2	237361156	C	A	C237361156A	COL6A3	NM_004369.3(COL6A3):c.6175G>T:p.Gly2059Cys	coding	Pathogenic
2	237361173	C	A	C237361173A	COL6A3	NM_004369.3(COL6A3):c.6158G>T:p.Gly2053Val	coding	Pathogenic/Likely_pathogenic
2	237361174	C	A	C237361174A	COL6A3	NM_004369.3(COL6A3):c.6157G>T:p.Gly2053Cys	coding	Pathogenic
2	237361176	T	G	T237361176G	COL6A3	NM_004369.3(COL6A3):c.6157-2A>C	noncoding	Pathogenic
2	237361190	C	T	C237361190T	COL6A3	NM_004369.3(COL6A3):c.6157-16G>A	noncoding	Benign
2	237361228	C	G	C237361228G	COL6A3	NM_004369.3(COL6A3):c.6157-54G>C	noncoding	Benign
2	237361685	T	C	T237361685C	COL6A3	NM_004369.3(COL6A3):c.6156+54A>G	noncoding	Benign
2	237361735	G	A	G237361735A	COL6A3	NM_004369.3(COL6A3):c.6156+4C>T	noncoding	Benign
2	237361738	C	A	C237361738A	COL6A3	NM_004369.4(COL6A3):c.6156+1G>T	noncoding	Pathogenic
2	237361738	C	T	C237361738T	COL6A3	NM_004369.3(COL6A3):c.6156+1G>A	noncoding	Pathogenic
2	237361790	C	T	C237361790T	COL6A3	NM_004369.3(COL6A3):c.6105G>A:p.Lys2035=	coding	Benign
2	237361833	T	C	T237361833C	COL6A3	NM_004369.3(COL6A3):c.6064-2A>G	noncoding	Pathogenic
2	237361837	G	A	G237361837A	COL6A3	NM_004369.3(COL6A3):c.6064-6C>T	noncoding	Benign/Likely_benign
2	237362083	A	G	A237362083G	COL6A3	NM_004369.3(COL6A3):c.6064-252T>C	noncoding	Benign
2	237363263	G	A	G237363263A	COL6A3	NM_004369.3(COL6A3):c.6053C>T:p.Ala2018Val	coding	Benign/Likely_benign
2	237363341	A	G	A237363341G	COL6A3	NM_004369.4(COL6A3):c.5975T>C:p.Met1992Thr	coding	Benign
2	237364322	C	G	C237364322G	COL6A3	NM_004369.3(COL6A3):c.5917+28G>C	noncoding	Benign
2	237365686	G	T	G237365686T	COL6A3	NM_004369.3(COL6A3):c.5838+12C>A	noncoding	Benign
2	237365697	C	A	C237365697A	COL6A3	NM_004369.3(COL6A3):c.5838+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	237365716	G	A	G237365716A	COL6A3	NM_004369.3(COL6A3):c.5820C>T:p.Ser1940=	coding	Benign/Likely_benign
2	237365824	G	A	G237365824A	COL6A3	NM_004369.3(COL6A3):c.5712C>T:p.Asp1904=	coding	Benign/Likely_benign
2	237365927	C	T	C237365927T	COL6A3	NM_004369.3(COL6A3):c.5609G>A:p.Ser1870Asn	coding	Benign/Likely_benign
2	237366185	C	A	C237366185A	COL6A3	NM_004369.3(COL6A3):c.5501-150G>T	noncoding	Benign
2	237366926	T	C	T237366926C	COL6A3	NM_004369.4(COL6A3):c.5261A>G:p.Lys1754Arg	coding	Benign/Likely_benign
2	237367010	A	C	A237367010C	COL6A3	NM_004369.3(COL6A3):c.5177T>G:p.Leu1726Arg	coding	Pathogenic
2	237367064	T	C	T237367064C	COL6A3	NM_004369.4(COL6A3):c.5123A>G:p.Lys1708Arg	coding	Benign
2	237367087	C	T	C237367087T	COL6A3	NM_004369.3(COL6A3):c.5100G>A:p.Arg1700=	coding	Benign
2	237367128	G	A	G237367128A	COL6A3	NM_004369.3(COL6A3):c.5059C>T:p.Pro1687Ser	coding	Benign/Likely_benign
2	237367151	C	T	C237367151T	COL6A3	NM_004369.3(COL6A3):c.5036G>A:p.Gly1679Glu	coding	Pathogenic/Likely_pathogenic
2	237367177	A	T	A237367177T	COL6A3	NM_004369.3(COL6A3):c.5010T>A:p.Tyr1670Ter	coding	Pathogenic
2	237367275	C	T	C237367275T	COL6A3	NM_004369.4(COL6A3):c.4912G>A:p.Ala1638Thr	coding	Benign/Likely_benign
2	237368568	C	T	C237368568T	COL6A3	NM_004369.3(COL6A3):c.4895G>A:p.Arg1632Gln	coding	Benign
2	237368628	G	T	G237368628T	COL6A3	NM_004369.3(COL6A3):c.4835C>A:p.Ser1612Ter	coding	Pathogenic
2	237368736	C	T	C237368736T	COL6A3	NM_004369.3(COL6A3):c.4727G>A:p.Arg1576Gln	coding	Benign
2	237368780	C	T	C237368780T	COL6A3	NM_004369.3(COL6A3):c.4683G>A:p.Gln1561=	coding	Benign/Likely_benign
2	237368930	C	A	C237368930A	COL6A3	NM_004369.3(COL6A3):c.4533G>T:p.Gly1511=	coding	Benign
2	237369097	G	A	G237369097A	COL6A3	NM_004369.3(COL6A3):c.4366C>T:p.Arg1456Ter	coding	Pathogenic
2	237369152	A	G	A237369152G	COL6A3	NM_004369.3(COL6A3):c.4311T>C:p.Ile1437=	coding	Benign
2	237369490	T	G	T237369490G	COL6A3	NM_004369.3(COL6A3):c.4286-313A>C	noncoding	Benign
2	237369499	G	A	G237369499A	COL6A3	NM_004369.3(COL6A3):c.4286-322C>T	noncoding	Benign
2	237371715	C	T	C237371715T	COL6A3	NM_004369.3(COL6A3):c.4285+17G>A	coding	Benign/Likely_benign
2	237371723	C	T	C237371723T	COL6A3	NM_004369.3(COL6A3):c.4285+9G>A	coding	Benign/Likely_benign
2	237371796	G	C	G237371796C	COL6A3	NM_004369.4(COL6A3):c.4221C>G:p.Pro1407=	coding	Benign
2	237371833	C	T	C237371833T	COL6A3	NM_004369.3(COL6A3):c.4184G>A:p.Arg1395Gln	coding	Benign/Likely_benign
2	237371834	G	A	G237371834A	COL6A3	NM_004369.3(COL6A3):c.4183C>T:p.Arg1395Trp	coding	Benign/Likely_benign
2	237371848	G	A	G237371848A	COL6A3	NM_004369.3(COL6A3):c.4169C>T:p.Ser1390Leu	coding	Benign/Likely_benign
2	237371910	G	A	G237371910A	COL6A3	NM_004369.3(COL6A3):c.4107C>T:p.Ile1369=	coding	Benign/Likely_benign
2	237371927	C	T	C237371927T	COL6A3	NM_004369.3(COL6A3):c.4090G>A:p.Val1364Met	coding	Benign/Likely_benign
2	237371985	C	T	C237371985T	COL6A3	NM_004369.3(COL6A3):c.4032G>A:p.Ser1344=	coding	Benign/Likely_benign
2	237372012	G	A	G237372012A	COL6A3	NM_004369.3(COL6A3):c.4005C>T:p.Gly1335=	coding	Benign/Likely_benign
2	237372138	A	C	A237372138C	COL6A3	NM_004369.3(COL6A3):c.3879T>G:p.Asp1293Glu	coding	Benign
2	237372444	A	G	A237372444G	COL6A3	NM_004369.3(COL6A3):c.3680-107T>C	noncoding	Benign
2	237374515	G	A	G237374515A	COL6A3	NM_004369.4(COL6A3):c.3576C>T:p.Arg1192=	coding	Benign
2	237374635	G	A	G237374635A	COL6A3	NM_004369.3(COL6A3):c.3456C>T:p.Ser1152=	coding	Benign/Likely_benign
2	237374645	C	T	C237374645T	COL6A3	NM_004369.3(COL6A3):c.3446G>A:p.Arg1149Gln	coding	Benign/Likely_benign
2	237374671	C	T	C237374671T	COL6A3	NM_004369.3(COL6A3):c.3420G>A:p.Thr1140=	coding	Benign/Likely_benign
2	237374829	T	G	T237374829G	COL6A3	NM_004369.3(COL6A3):c.3262A>C:p.Lys1088Gln	coding	Benign
2	237374886	C	T	C237374886T	COL6A3	NM_004369.3(COL6A3):c.3205G>A:p.Val1069Met	coding	Benign/Likely_benign
2	237374900	C	T	C237374900T	COL6A3	NM_004369.3(COL6A3):c.3191G>A:p.Arg1064Gln	coding	Benign/Likely_benign
2	237374962	G	A	G237374962A	COL6A3	NM_004369.3(COL6A3):c.3129C>T:p.Gly1043=	coding	Benign
2	237375003	C	T	C237375003T	COL6A3	NM_004369.3(COL6A3):c.3088G>A:p.Val1030Met	coding	Benign/Likely_benign
2	237375036	C	T	C237375036T	COL6A3	NM_004369.3(COL6A3):c.3071-16G>A	noncoding	Benign/Likely_benign
2	237375306	A	G	A237375306G	COL6A3	NM_004369.3(COL6A3):c.3071-286T>C	noncoding	Benign
2	237376788	G	A	G237376788A	COL6A3	NM_004369.3(COL6A3):c.3054C>T:p.Asn1018=	coding	Benign/Likely_benign
2	237376833	T	A	T237376833A	COL6A3	NM_004369.3(COL6A3):c.3009A>T:p.Gly1003=	coding	Benign
2	237377222	G	A	G237377222A	COL6A3	NM_004369.3(COL6A3):c.2620C>T:p.Arg874Ter	coding	Pathogenic
2	237377336	G	A	G237377336A	COL6A3	NM_004369.3(COL6A3):c.2506C>T:p.Arg836Ter	coding	Pathogenic
2	237378645	C	A	C237378645A	COL6A3	NM_004369.3(COL6A3):c.2488G>T:p.Ala830Ser	coding	Benign
2	237378670	A	G	A237378670G	COL6A3	NM_004369.3(COL6A3):c.2463T>C:p.Ser821=	coding	Benign/Likely_benign
2	237378702	G	A	G237378702A	COL6A3	NM_004369.3(COL6A3):c.2431C>T:p.Gln811Ter	coding	Pathogenic
2	237378714	C	T	C237378714T	COL6A3	NM_004369.3(COL6A3):c.2419G>A:p.Ala807Thr	coding	Benign
2	237378856	A	C	A237378856C	COL6A3	NM_004369.3(COL6A3):c.2277T>G:p.Tyr759Ter	coding	Pathogenic
2	237378928	G	A	G237378928A	COL6A3	NM_004369.3(COL6A3):c.2205C>T:p.Gly735=	coding	Benign/Likely_benign
2	237378971	G	C	G237378971C	COL6A3	NM_004369.4(COL6A3):c.2162C>G:p.Ser721Ter	coding	Pathogenic
2	237378986	C	T	C237378986T	COL6A3	NM_004369.3(COL6A3):c.2147G>A:p.Gly716Asp	coding	Benign/Likely_benign
2	237379103	C	T	C237379103T	COL6A3	NM_004369.3(COL6A3):c.2030G>A:p.Arg677His	coding	Benign/Likely_benign
2	237379157	C	T	C237379157T	COL6A3	NM_004369.3(COL6A3):c.1976G>A:p.Arg659His	coding	Benign
2	237379219	C	T	C237379219T	COL6A3	NM_004369.3(COL6A3):c.1914G>A:p.Arg638=	coding	Benign
2	237380972	G	A	G237380972A	COL6A3	NM_004369.4(COL6A3):c.1840C>T:p.Gln614Ter	coding	Pathogenic
2	237380987	G	A	G237380987A	COL6A3	NM_004369.4(COL6A3):c.1825C>T:p.Arg609Ter	coding	Pathogenic
2	237381021	G	A	G237381021A	COL6A3	NM_004369.3(COL6A3):c.1791C>T:p.Phe597=	coding	Benign/Likely_benign
2	237381026	C	A	C237381026A	COL6A3	NM_004369.3(COL6A3):c.1786G>T:p.Ala596Ser	coding	Benign/Likely_benign
2	237381051	G	A	G237381051A	COL6A3	NM_004369.3(COL6A3):c.1761C>T:p.Ala587=	coding	Benign/Likely_benign
2	237381113	G	A	G237381113A	COL6A3	NM_004369.3(COL6A3):c.1699C>T:p.Gln567Ter	coding	Pathogenic
2	237381174	G	A	G237381174A	COL6A3	NM_004369.3(COL6A3):c.1638C>T:p.Ala546=	coding	Benign
2	237381225	T	C	T237381225C	COL6A3	NM_004369.3(COL6A3):c.1587A>G:p.Leu529=	coding	Benign
2	237381334	A	G	A237381334G	COL6A3	NM_004369.3(COL6A3):c.1478T>C:p.Val493Ala	coding	Benign/Likely_benign
2	237381337	G	C	G237381337C	COL6A3	NM_004369.3(COL6A3):c.1475C>G:p.Thr492Ser	coding	Benign
2	237381341	C	G	C237381341G	COL6A3	NM_004369.3(COL6A3):c.1471G>C:p.Asp491His	coding	Benign
2	237381419	G	A	G237381419A	COL6A3	NM_004369.3(COL6A3):c.1393C>T:p.Arg465Ter	coding	Pathogenic
2	237381423	G	A	G237381423A	COL6A3	NM_004369.3(COL6A3):c.1389C>T:p.Ala463=	coding	Benign
2	237381516	T	C	T237381516C	COL6A3	NM_004369.3(COL6A3):c.1313-17A>G	noncoding	Benign/Likely_benign
2	237381802	A	G	A237381802G	COL6A3	NM_004369.3(COL6A3):c.1313-303T>C	noncoding	Benign
2	237387630	C	T	C237387630T	COL6A3	NM_004369.3(COL6A3):c.1264G>A:p.Val422Met	coding	Benign/Likely_benign
2	237387646	C	T	C237387646T	COL6A3	NM_004369.3(COL6A3):c.1248G>A:p.Leu416=	coding	Benign/Likely_benign
2	237387663	G	C	G237387663C	COL6A3	NM_004369.3(COL6A3):c.1231C>G:p.Leu411Val	coding	Benign/Likely_benign
2	237387666	C	T	C237387666T	COL6A3	NM_004369.3(COL6A3):c.1228G>A:p.Asp410Asn	coding	Benign/Likely_benign
2	237387712	G	A	G237387712A	COL6A3	NM_004369.3(COL6A3):c.1182C>T:p.Thr394=	coding	Benign/Likely_benign
2	237387936	C	T	C237387936T	COL6A3	NM_004369.3(COL6A3):c.958G>A:p.Ala320Thr	coding	Benign/Likely_benign
2	237388012	G	A	G237388012A	COL6A3	NM_004369.3(COL6A3):c.882C>T:p.Phe294=	coding	Benign
2	237388119	C	T	C237388119T	COL6A3	NM_004369.3(COL6A3):c.775G>A:p.Ala259Thr	coding	Benign/Likely_benign
2	237388126	G	A	G237388126A	COL6A3	NM_004369.3(COL6A3):c.768C>T:p.Val256=	coding	Benign
2	237388164	T	C	T237388164C	COL6A3	NM_004369.3(COL6A3):c.730A>G:p.Ile244Val	coding	Benign/Likely_benign
2	237395004	T	A	T237395004A	COL6A3	NM_004369.3(COL6A3):c.292A>T:p.Thr98Ser	coding	Benign/Likely_benign
2	237395121	G	A	G237395121A	COL6A3	NM_004369.3(COL6A3):c.175C>T:p.Arg59Ter	coding	Pathogenic/Likely_pathogenic
2	237396568	C	T	C237396568T	COL6A3	NM_004369.3(COL6A3):c.91+159G>A	noncoding	Benign
2	237396712	G	A	G237396712A	COL6A3	NM_004369.3(COL6A3):c.91+15C>T	noncoding	Benign
2	237396716	C	G	C237396716G	COL6A3	NM_004369.3(COL6A3):c.91+11G>C	noncoding	Benign/Likely_benign
2	237396742	G	A	G237396742A	COL6A3	NM_004369.3(COL6A3):c.76C>T:p.Gln26Ter	coding	Pathogenic
2	237396784	C	T	C237396784T	COL6A3	NM_004369.3(COL6A3):c.34G>A:p.Val12Ile	coding	Benign/Likely_benign
2	237396804	C	T	C237396804T	COL6A3	NM_004369.4(COL6A3):c.14G>A:p.Arg5Gln	coding	Benign
2	237413936	A	G	A237413936G	COL6A3	NM_004369.3(COL6A3):c.-31+17T>C	noncoding	Benign
2	237414037	C	T	C237414037T	COL6A3	NM_004369.3(COL6A3):c.-115G>A	noncoding	Benign
2	237414069	C	T	C237414069T	COL6A3	NM_004369.3(COL6A3):c.-147G>A	noncoding	Benign
2	237414086	A	C	A237414086C	COL6A3	NM_004369.3(COL6A3):c.-164T>G	noncoding	Benign
2	237493465	A	G	A237493465G	MLPH	NM_024101.7(MLPH):c.39A>G:p.Glu13=	coding	Benign
2	237493496	C	T	C237493496T	MLPH	NM_024101.7(MLPH):c.70C>T:p.Arg24Ter	coding	Pathogenic
2	237493529	C	T	C237493529T	MLPH	NM_024101.7(MLPH):c.103C>T:p.Arg35Trp	coding	Pathogenic
2	237510595	G	A	G237510595A	MLPH	NM_024101.7(MLPH):c.132G>A:p.Lys44=	coding	Benign
2	237510979	G	A	G237510979A	MLPH	NM_024101.7(MLPH):c.333-10G>A	coding	Benign
2	237511028	T	C	T237511028C	MLPH	NM_024101.7(MLPH):c.372T>C:p.His124=	coding	Benign
2	237518615	G	A	G237518615A	MLPH	NM_024101.7(MLPH):c.522G>A:p.Glu174=	coding	Benign
2	237534614	C	T	C237534614T	MLPH	NM_024101.7(MLPH):c.1071C>T:p.Tyr357=	coding	Benign
2	237540927	G	A	G237540927A	MLPH	NM_024101.7(MLPH):c.1416G>A:p.Thr472=	coding	Benign/Likely_benign
2	237542628	C	T	C237542628T	MLPH	NM_024101.7(MLPH):c.1508C>T:p.Ser503Leu	coding	Benign
2	237546598	C	T	C237546598T	MLPH	NM_024101.7(MLPH):c.1540-8C>T	noncoding	Benign
2	237552371	G	A	G237552371A	MLPH	NM_024101.7(MLPH):c.1710G>A:p.Val570=	coding	Benign
2	237552434	C	T	C237552434T	MLPH	NM_024101.7(MLPH):c.1773C>T:p.Phe591=	coding	Benign
2	237749309	C	T	C237749309T	LRRFIP1	NM_001137550.2(LRRFIP1):c.780C>T:p.Ser260=	coding	Benign
2	237911726	C	A	C237911726A	RAMP1	NM_005855.4(RAMP1):c.390C>A:p.Thr130=	coding	Benign
2	237911738	G	A	G237911738A	RAMP1	NM_005855.4(RAMP1):c.402G>A:p.Thr134=	coding	Benign
2	238068120	A	G	A238068120G	SCLY	NM_016510.7(SCLY):c.258A>G:p.Ile86Met	coding	Benign
2	238081843	C	T	C238081843T	SCLY	NM_016510.7(SCLY):c.612+7C>T	noncoding	Benign
2	238083297	T	C	T238083297C	SCLY	NM_016510.7(SCLY):c.827T>C:p.Phe276Ser	coding	Benign
2	238093915	G	A	G238093915A	SCLY	NM_016510.7(SCLY):c.976G>A:p.Val326Ile	coding	Benign
2	238098250	G	A	G238098250A	SCLY	NM_016510.7(SCLY):c.1233G>A:p.Arg411=	coding	Benign
2	238098292	C	T	C238098292T	SCLY	NM_016510.7(SCLY):c.1275C>T:p.Ala425=	coding	Benign
2	238104670	G	A	G238104670A	ESPNL	NM_194312.4(ESPNL):c.500G>A:p.Arg167Gln	coding	Benign
2	238125333	C	T	C238125333T	ESPNL	NM_194312.4(ESPNL):c.1051C>T:p.Arg351Cys	coding	Benign
2	238170635	G	A	G238170635A	ILKAP	NM_030768.3(ILKAP):c.1080C>T:p.Asp360=	coding	Benign
2	238253441	G	A	G238253441A	PER2	NM_022817.3(PER2):c.2582C>T:p.Ala861Val	coding	Benign
2	238253557	C	T	C238253557T	PER2	NM_022817.3(PER2):c.2466G>A:p.Pro822=	coding	Benign
2	238255792	C	T	C238255792T	PER2	NM_022817.3(PER2):c.2185G>A:p.Val729Ile	coding	Benign
2	238257003	T	C	T238257003C	PER2	NM_022817.3(PER2):c.1984A>G:p.Ser662Gly	coding	Pathogenic
2	238258367	C	T	C238258367T	PER2	NM_022817.3(PER2):c.1809G>A:p.Leu603=	coding	Benign
2	238262297	G	A	G238262297A	PER2	NM_022817.3(PER2):c.1201C>T:p.Arg401Cys	coding	Benign
2	238262319	G	A	G238262319A	PER2	NM_022817.3(PER2):c.1179C>T:p.Phe393=	coding	Benign
2	238271406	C	T	C238271406T	PER2	NM_022817.3(PER2):c.678G>A:p.Lys226=	coding	Benign
2	238273100	G	A	G238273100A	PER2	NM_022817.3(PER2):c.540C>T:p.Ser180=	coding	Benign
2	238275771	G	A	G238275771A	PER2	NM_022817.3(PER2):c.420C>T:p.Tyr140=	coding	Benign
2	238275789	C	T	C238275789T	PER2	NM_022817.3(PER2):c.402G>A:p.Thr134=	coding	Benign
2	238275882	C	A	C238275882A	PER2	NM_022817.3(PER2):c.309G>T:p.Ser103=	coding	Benign
2	238320713	T	G	T238320713G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.51T>G:p.Ile17Met	coding	Pathogenic
2	238325347	C	T	C238325347T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.165C>T:p.Asp55=	coding	Benign
2	238325351	G	A	G238325351A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.169G>A:p.Glu57Lys	coding	Pathogenic
2	238328704	G	A	G238328704A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.373G>A:p.Val125Met	coding	Pathogenic
2	238328705	T	C	T238328705C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.374T>C:p.Val125Ala	coding	Pathogenic
2	238328794	C	T	C238328794T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.463C>T:p.Arg155Ter	coding	Pathogenic
2	238328937	C	T	C238328937T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.510C>T:p.Asp170=	coding	Benign
2	238329205	G	A	G238329205A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.778G>A:p.Glu260Lys	coding	Benign
2	238333959	G	C	G238333959C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.988-1G>C	noncoding	Pathogenic
2	238347483	A	T	A238347483T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1282+8A>T	noncoding	Benign
2	238348839	C	G	C238348839G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1358C>G:p.Ser453Cys	coding	Pathogenic
2	238349319	G	T	G238349319T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1368-6G>T	noncoding	Benign
2	238352934	T	G	T238352934G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1559T>G:p.Met520Arg	coding	Pathogenic
2	238352956	T	G	T238352956G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1575+6T>G	noncoding	Pathogenic
2	238397683	G	A	G238397683A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1910+4G>A	noncoding	Benign
2	238848408	C	T	C238848408T	TWIST2	NM_001271893.4(TWIST2):c.193C>T:p.Gln65Ter	coding	Pathogenic
2	238848438	G	A	G238848438A	TWIST2	NM_001271893.4(TWIST2):c.223G>A:p.Glu75Lys	coding	Pathogenic
2	238848438	G	C	G238848438C	TWIST2	NM_001271893.4(TWIST2):c.223G>C:p.Glu75Gln	coding	Pathogenic
2	238848439	A	C	A238848439C	TWIST2	NM_001271893.4(TWIST2):c.224A>C:p.Glu75Ala	coding	Pathogenic
2	238848570	C	T	C238848570T	TWIST2	NM_001271893.4(TWIST2):c.355C>T:p.Gln119Ter	coding	Pathogenic
2	239066815	G	A	G239066815A	HDAC4	NM_006037.3(HDAC4):c.2895C>T:p.Gly965=	coding	Benign
2	239084181	C	T	C239084181T	HDAC4	NM_006037.3(HDAC4):c.2491G>A:p.Val831Met	coding	Benign
2	239090026	C	T	C239090026T	HDAC4	NM_006037.3(HDAC4):c.2356G>A:p.Ala786Thr	coding	Benign/Likely_benign
2	239090078	C	T	C239090078T	HDAC4	NM_006037.3(HDAC4):c.2304G>A:p.Ala768=	coding	Benign
2	239102846	C	T	C239102846T	HDAC4	NM_006037.3(HDAC4):c.2148G>A:p.Ser716=	coding	Benign/Likely_benign
2	239102901	G	A	G239102901A	HDAC4	NM_006037.3(HDAC4):c.2098-5C>T	noncoding	Benign
2	239108179	G	A	G239108179A	HDAC4	NM_006037.3(HDAC4):c.1968C>T:p.Leu656=	coding	Benign
2	239108189	G	A	G239108189A	HDAC4	NM_006037.3(HDAC4):c.1964-6C>T	noncoding	Benign
2	239111516	C	T	C239111516T	HDAC4	NM_006037.3(HDAC4):c.1963+10G>A	noncoding	Benign
2	239111551	G	A	G239111551A	HDAC4	NM_006037.3(HDAC4):c.1938C>T:p.Pro646=	coding	Benign/Likely_benign
2	239111623	G	A	G239111623A	HDAC4	NM_006037.3(HDAC4):c.1866C>T:p.Gly622=	coding	Benign
2	239111695	C	T	C239111695T	HDAC4	NM_006037.3(HDAC4):c.1794G>A:p.Glu598=	coding	Benign
2	239115046	C	T	C239115046T	HDAC4	NM_006037.3(HDAC4):c.1776+7G>A	noncoding	Benign
2	239115152	C	T	C239115152T	HDAC4	NM_006037.3(HDAC4):c.1677G>A:p.Lys559=	coding	Benign
2	239115176	G	A	G239115176A	HDAC4	NM_006037.3(HDAC4):c.1653C>T:p.His551=	coding	Benign
2	239115218	G	A	G239115218A	HDAC4	NM_006037.3(HDAC4):c.1611C>T:p.Asp537=	coding	Benign
2	239134339	C	T	C239134339T	HDAC4	NM_006037.3(HDAC4):c.1200G>A:p.Ser400=	coding	Benign
2	239134419	C	T	C239134419T	HDAC4	NM_006037.3(HDAC4):c.1120G>A:p.Glu374Lys	coding	Benign
2	239134438	C	T	C239134438T	HDAC4	NM_006037.3(HDAC4):c.1101G>A:p.Thr367=	coding	Benign
2	239134517	G	C	G239134517C	HDAC4	NM_006037.3(HDAC4):c.1095+10C>G	noncoding	Benign
2	239134602	G	A	G239134602A	HDAC4	NM_006037.3(HDAC4):c.1020C>T:p.Ala340=	coding	Benign
2	239139703	A	G	A239139703G	HDAC4	NM_006037.3(HDAC4):c.959T>C:p.Val320Ala	coding	Benign
2	239139704	C	T	C239139704T	HDAC4	NM_006037.3(HDAC4):c.958G>A:p.Val320Ile	coding	Benign/Likely_benign
2	239139705	G	A	G239139705A	HDAC4	NM_006037.3(HDAC4):c.957C>T:p.Ala319=	coding	Benign
2	239139707	C	T	C239139707T	HDAC4	NM_006037.3(HDAC4):c.955G>A:p.Ala319Thr	coding	Benign
2	239139720	G	A	G239139720A	HDAC4	NM_006037.3(HDAC4):c.942C>T:p.Asn314=	coding	Benign
2	239139792	G	A	G239139792A	HDAC4	NM_006037.3(HDAC4):c.870C>T:p.Ser290=	coding	Benign
2	239144705	G	A	G239144705A	HDAC4	NM_006037.3(HDAC4):c.743C>T:p.Pro248Leu	coding	Pathogenic/Likely_pathogenic
2	239156701	C	T	C239156701T	HDAC4	NM_006037.3(HDAC4):c.684G>A:p.Pro228=	coding	Benign
2	239156727	C	T	C239156727T	HDAC4	NM_006037.3(HDAC4):c.658G>A:p.Gly220Arg	coding	Benign
2	239176450	C	T	C239176450T	HDAC4	NM_006037.3(HDAC4):c.453G>A:p.Lys151=	coding	Benign
2	239189950	C	T	C239189950T	HDAC4	NM_006037.3(HDAC4):c.222G>A:p.Glu74=	coding	Benign/Likely_benign
2	239190061	C	T	C239190061T	HDAC4	NM_006037.3(HDAC4):c.111G>A:p.Ala37=	coding	Benign
2	239957574	G	A	G239957574A	NDUFA10	NM_004544.4(NDUFA10):c.*3544C>T	noncoding	Benign/Likely_benign
2	239957668	C	T	C239957668T	NDUFA10	NM_004544.4(NDUFA10):c.*3450G>A	noncoding	Benign
2	239957769	C	T	C239957769T	NDUFA10	NM_004544.4(NDUFA10):c.*3349G>A	noncoding	Benign/Likely_benign
2	239957914	G	A	G239957914A	NDUFA10	NM_004544.4(NDUFA10):c.*3204C>T	noncoding	Benign
2	239958043	A	C	A239958043C	NDUFA10	NM_004544.4(NDUFA10):c.*3075T>G	noncoding	Benign/Likely_benign
2	239958516	G	A	G239958516A	NDUFA10	NM_004544.4(NDUFA10):c.*2602C>T	noncoding	Benign
2	239958607	G	A	G239958607A	NDUFA10	NM_004544.4(NDUFA10):c.*2511C>T	noncoding	Benign/Likely_benign
2	239958623	G	A	G239958623A	NDUFA10	NM_004544.4(NDUFA10):c.*2495C>T	noncoding	Benign/Likely_benign
2	239958809	C	T	C239958809T	NDUFA10	NM_004544.4(NDUFA10):c.*2309G>A	noncoding	Benign
2	239958916	G	A	G239958916A	NDUFA10	NM_004544.4(NDUFA10):c.*2202C>T	noncoding	Benign/Likely_benign
2	239959161	C	T	C239959161T	NDUFA10	NM_004544.4(NDUFA10):c.*1957G>A	noncoding	Benign
2	239959240	G	A	G239959240A	NDUFA10	NM_004544.4(NDUFA10):c.*1878C>T	noncoding	Benign/Likely_benign
2	239959736	G	A	G239959736A	NDUFA10	NM_004544.4(NDUFA10):c.*1382C>T	noncoding	Benign/Likely_benign
2	239959889	G	C	G239959889C	NDUFA10	NM_004544.4(NDUFA10):c.*1229C>G	noncoding	Benign
2	239959901	T	C	T239959901C	NDUFA10	NM_004544.4(NDUFA10):c.*1217A>G	noncoding	Benign/Likely_benign
2	239959929	G	A	G239959929A	NDUFA10	NM_004544.4(NDUFA10):c.*1189C>T	noncoding	Benign
2	239960487	G	A	G239960487A	NDUFA10	NM_004544.4(NDUFA10):c.*631C>T	noncoding	Benign
2	239960680	G	A	G239960680A	NDUFA10	NM_004544.4(NDUFA10):c.*438C>T	noncoding	Benign
2	239960704	C	T	C239960704T	NDUFA10	NM_004544.4(NDUFA10):c.*414G>A	noncoding	Benign
2	239960711	G	A	G239960711A	NDUFA10	NM_004544.4(NDUFA10):c.*407C>T	noncoding	Benign/Likely_benign
2	239960722	G	C	G239960722C	NDUFA10	NM_004544.4(NDUFA10):c.*396C>G	noncoding	Benign
2	239960810	G	A	G239960810A	NDUFA10	NM_004544.4(NDUFA10):c.*308C>T	noncoding	Benign
2	239961116	G	A	G239961116A	NDUFA10	NM_004544.4(NDUFA10):c.*2C>T	noncoding	Benign
2	239961274	C	G	C239961274G	NDUFA10	NM_004544.4(NDUFA10):c.1000-88G>C	noncoding	Benign
2	239961378	C	T	C239961378T	NDUFA10	NM_004544.4(NDUFA10):c.1000-192G>A	noncoding	Benign
2	239989891	C	T	C239989891T	NDUFA10	NM_004544.4(NDUFA10):c.999+183G>A	noncoding	Benign
2	240005017	T	C	T240005017C	NDUFA10	NM_004544.4(NDUFA10):c.890+193A>G	noncoding	Benign
2	240005129	A	G	A240005129G	NDUFA10	NM_004544.4(NDUFA10):c.890+81T>C	noncoding	Benign
2	240005219	A	G	A240005219G	NDUFA10	NM_004544.4(NDUFA10):c.881T>C:p.Leu294Pro	coding	Pathogenic
2	240007142	G	A	G240007142A	NDUFA10	NM_004544.4(NDUFA10):c.804+174C>T	noncoding	Benign
2	240007349	T	C	T240007349C	NDUFA10	NM_004544.4(NDUFA10):c.771A>G:p.Gln257=	coding	Benign
2	240007638	A	G	A240007638G	NDUFA10	NM_004544.4(NDUFA10):c.750-268T>C	noncoding	Benign
2	240007649	G	A	G240007649A	NDUFA10	NM_004544.4(NDUFA10):c.750-279C>T	noncoding	Benign
2	240011333	G	A	G240011333A	NDUFA10	NM_004544.4(NDUFA10):c.749+284C>T	noncoding	Benign
2	240011339	G	A	G240011339A	NDUFA10	NM_004544.4(NDUFA10):c.749+278C>T	noncoding	Benign
2	240011614	C	T	C240011614T	NDUFA10	NM_004544.4(NDUFA10):c.749+3G>A	noncoding	Benign
2	240011654	C	T	C240011654T	NDUFA10	NM_004544.4(NDUFA10):c.712G>A:p.Glu238Lys	coding	Benign/Likely_benign
2	240014662	G	A	G240014662A	NDUFA10	NM_004544.4(NDUFA10):c.669+77C>T	noncoding	Benign
2	240015176	C	T	C240015176T	NDUFA10	NM_004544.4(NDUFA10):c.548-316G>A	noncoding	Benign
2	240018317	G	A	G240018317A	NDUFA10	NM_004544.4(NDUFA10):c.547+236C>T	noncoding	Benign
2	240018384	G	A	G240018384A	NDUFA10	NM_004544.4(NDUFA10):c.547+169C>T	noncoding	Benign
2	240021232	T	C	T240021232C	NDUFA10	NM_004544.4(NDUFA10):c.425A>G:p.Gln142Arg	coding	Pathogenic
2	240021431	G	A	G240021431A	NDUFA10	NM_004544.4(NDUFA10):c.245-19C>T	noncoding	Benign
2	240022005	C	T	C240022005T	NDUFA10	NM_004544.4(NDUFA10):c.244+167G>A	noncoding	Benign
2	240022222	T	C	T240022222C	NDUFA10	NM_004544.4(NDUFA10):c.194A>G:p.Asn65Ser	coding	Benign/Likely_benign
2	240022311	T	C	T240022311C	NDUFA10	NM_004544.4(NDUFA10):c.105A>G:p.Lys35=	coding	Benign
2	240025278	C	T	C240025278T	NDUFA10	NM_004544.4(NDUFA10):c.24G>A:p.Leu8=	coding	Benign
2	240025297	G	C	G240025297C	NDUFA10	NM_004544.4(NDUFA10):c.5C>G:p.Ala2Gly	coding	Benign
2	240025301	T	C	T240025301C	NDUFA10	NM_004544.4(NDUFA10):c.1A>G:p.Met1Val	coding	Pathogenic
2	240029627	T	A	T240029627A	OR6B2	NM_001005853.1(OR6B2):c.803A>T:p.Gln268Leu	coding	Benign
2	240030066	G	A	G240030066A	OR6B2	NM_001005853.1(OR6B2):c.364C>T:p.Arg122Cys	coding	Benign
2	240045930	G	A	G240045930A	OR6B3	NM_173351.1(OR6B3):c.143C>T:p.Thr48Ile	coding	Benign
2	240462246	C	T	C240462246T	GPC1	NM_002081.3(GPC1):c.381C>T:p.Pro127=	coding	Benign
2	240465497	C	T	C240465497T	GPC1	NM_002081.3(GPC1):c.1293C>T:p.Asp431=	coding	Benign
2	240500539	G	A	G240500539A	ANKMY1	NM_001282771.3(ANKMY1):c.2553C>T:p.Ala851=	coding	Benign
2	240524238	G	A	G240524238A	ANKMY1	NM_001282771.3(ANKMY1):c.1479C>T:p.Arg493=	coding	Benign
2	240529333	G	T	G240529333T	ANKMY1	NM_001282771.3(ANKMY1):c.657C>A:p.Ala219=	coding	Benign
2	240529355	C	G	C240529355G	ANKMY1	NM_001282771.3(ANKMY1):c.635G>C:p.Ser212Thr	coding	Benign
2	240573229	C	T	C240573229T	RNPEPL1	NM_018226.6(RNPEPL1):c.789C>T:p.Ala263=	coding	Benign
2	240575118	A	G	A240575118G	RNPEPL1	NM_018226.6(RNPEPL1):c.1377A>G:p.Pro459=	coding	Benign
2	240587011	C	G	C240587011G	CAPN10	NM_023083.4(CAPN10):c.100C>G:p.Leu34Val	coding	Benign
2	240592060	C	A	C240592060A	CAPN10	NM_023083.4(CAPN10):c.598C>A:p.Pro200Thr	coding	Benign
2	240594045	G	A	G240594045A	CAPN10	NM_023083.4(CAPN10):c.828G>A:p.Glu276=	coding	Benign
2	240596418	G	A	G240596418A	CAPN10	NM_023083.4(CAPN10):c.1378G>A:p.Glu460Lys	coding	Benign
2	240596460	C	A	C240596460A	CAPN10	NM_023083.4(CAPN10):c.1420C>A:p.Leu474Met	coding	Benign
2	240596469	G	A	G240596469A	CAPN10	NM_023083.4(CAPN10):c.1429G>A:p.Ala477Thr	coding	Benign
2	240596471	G	A	G240596471A	CAPN10	NM_023083.4(CAPN10):c.1431G>A:p.Ala477=	coding	Benign
2	240596909	C	T	C240596909T	CAPN10	NM_023083.4(CAPN10):c.1710C>T:p.Thr570=	coding	Benign
2	240597889	T	C	T240597889C	CAPN10	NM_023083.4(CAPN10):c.1745T>C:p.Val582Ala	coding	Benign
2	240630025	G	A	G240630025A	GPR35	NM_001195381.2(GPR35):c.166G>A:p.Ala56Thr	coding	Benign
2	240630037	G	A	G240630037A	GPR35	NM_001195381.2(GPR35):c.178G>A:p.Val60Ile	coding	Benign
2	240630075	G	C	G240630075C	GPR35	NM_001195381.2(GPR35):c.216G>C:p.Ala72=	coding	Benign
2	240630118	C	T	C240630118T	GPR35	NM_001195381.2(GPR35):c.259C>T:p.Arg87Cys	coding	Benign
2	240630178	G	A	G240630178A	GPR35	NM_001195381.2(GPR35):c.319G>A:p.Val107Met	coding	Benign
2	240630252	G	A	G240630252A	GPR35	NM_001195381.2(GPR35):c.393G>A:p.Arg131=	coding	Benign
2	240630328	G	A	G240630328A	GPR35	NM_001195381.2(GPR35):c.469G>A:p.Gly157Arg	coding	Benign
2	240630429	C	T	C240630429T	GPR35	NM_001195381.2(GPR35):c.570C>T:p.Gly190=	coding	Benign
2	240630618	C	T	C240630618T	GPR35	NM_001195381.2(GPR35):c.759C>T:p.Asn253=	coding	Benign
2	240630630	C	T	C240630630T	GPR35	NM_001195381.2(GPR35):c.771C>T:p.Phe257=	coding	Benign
2	240630690	C	T	C240630690T	GPR35	NM_001195381.2(GPR35):c.831C>T:p.Asn277=	coding	Benign
2	240630810	G	A	G240630810A	GPR35	NM_001195381.2(GPR35):c.951G>A:p.Ala317=	coding	Benign
2	240713870	A	G	A240713870G	KIF1A	NM_004321.7(KIF1A):c.*3494T>C	noncoding	Benign
2	240714326	A	T	A240714326T	KIF1A	NM_004321.7(KIF1A):c.*3038T>A	noncoding	Benign
2	240714788	T	C	T240714788C	KIF1A	NM_004321.7(KIF1A):c.*2576A>G	noncoding	Benign
2	240714821	G	A	G240714821A	KIF1A	NM_004321.7(KIF1A):c.*2543C>T	noncoding	Benign
2	240715107	G	A	G240715107A	KIF1A	NM_004321.7(KIF1A):c.*2257C>T	noncoding	Benign
2	240715541	G	A	G240715541A	KIF1A	NM_004321.7(KIF1A):c.*1823C>T	noncoding	Benign
2	240715621	C	T	C240715621T	KIF1A	NM_004321.7(KIF1A):c.*1743G>A	noncoding	Benign
2	240715670	G	A	G240715670A	KIF1A	NM_004321.7(KIF1A):c.*1694C>T	noncoding	Benign
2	240715679	C	G	C240715679G	KIF1A	NM_004321.7(KIF1A):c.*1685G>C	noncoding	Benign
2	240716127	G	A	G240716127A	KIF1A	NM_004321.7(KIF1A):c.*1237C>T	noncoding	Benign
2	240716177	G	A	G240716177A	KIF1A	NM_004321.7(KIF1A):c.*1187C>T	noncoding	Benign
2	240716359	C	T	C240716359T	KIF1A	NM_004321.7(KIF1A):c.*1005G>A	noncoding	Benign
2	240719150	C	T	C240719150T	KIF1A	NM_004321.7(KIF1A):c.4767G>A:p.Thr1589=	coding	Benign/Likely_benign
2	240719598	T	C	T240719598C	KIF1A	NM_004321.7(KIF1A):c.4718+176A>G	noncoding	Benign
2	240719758	G	A	G240719758A	KIF1A	NM_004321.7(KIF1A):c.4718+16C>T	noncoding	Benign/Likely_benign
2	240719814	G	A	G240719814A	KIF1A	NM_004321.7(KIF1A):c.4678C>T:p.Gln1560Ter	coding	Pathogenic
2	240719920	C	T	C240719920T	KIF1A	NM_004321.7(KIF1A):c.4572G>A:p.Pro1524=	coding	Benign/Likely_benign
2	240719951	C	A	C240719951A	KIF1A	NM_004321.7(KIF1A):c.4566-25G>T	noncoding	Benign
2	240720970	G	T	G240720970T	KIF1A	NM_004321.7(KIF1A):c.4509C>A:p.Thr1503=	coding	Benign/Likely_benign
2	240721561	T	C	T240721561C	KIF1A	NM_004321.7(KIF1A):c.4440+246A>G	noncoding	Benign
2	240723503	G	A	G240723503A	KIF1A	NM_004321.7(KIF1A):c.4071C>T:p.Gly1357=	coding	Benign/Likely_benign
2	240723566	G	A	G240723566A	KIF1A	NM_004321.7(KIF1A):c.4016-8C>T	noncoding	Benign
2	240723602	C	T	C240723602T	KIF1A	NM_004321.7(KIF1A):c.4016-44G>A	noncoding	Benign
2	240725384	C	T	C240725384T	KIF1A	NM_004321.7(KIF1A):c.3840G>A:p.Pro1280=	coding	Benign
2	240737056	G	A	G240737056A	KIF1A	NM_004321.7(KIF1A):c.3704+7C>T	noncoding	Benign/Likely_benign
2	240737512	G	T	G240737512T	KIF1A	NM_004321.7(KIF1A):c.3599-344C>A	noncoding	Benign
2	240740047	A	G	A240740047G	KIF1A	NM_004321.7(KIF1A):c.3598+11T>C	noncoding	Benign
2	240740107	A	G	A240740107G	KIF1A	NM_004321.7(KIF1A):c.3549T>C:p.His1183=	coding	Benign/Likely_benign
2	240740133	G	A	G240740133A	KIF1A	NM_004321.7(KIF1A):c.3523C>T:p.Arg1175Ter	coding	Pathogenic
2	240740289	G	A	G240740289A	KIF1A	NM_004321.7(KIF1A):c.3513+9C>T	noncoding	Benign/Likely_benign
2	240741216	G	T	G240741216T	KIF1A	NM_004321.7(KIF1A):c.3446+53C>A	noncoding	Benign
2	240741227	G	C	G240741227C	KIF1A	NM_004321.7(KIF1A):c.3446+42C>G	noncoding	Benign
2	240741337	C	T	C240741337T	KIF1A	NM_004321.7(KIF1A):c.3378G>A:p.Pro1126=	coding	Benign/Likely_benign
2	240741385	G	A	G240741385A	KIF1A	NM_004321.7(KIF1A):c.3338-8C>T	noncoding	Benign
2	240745243	T	C	T240745243C	KIF1A	NM_004321.7(KIF1A):c.3162+184A>G	noncoding	Benign
2	240745610	G	A	G240745610A	KIF1A	NM_004321.7(KIF1A):c.3072-93C>T	noncoding	Benign
2	240745785	C	T	C240745785T	KIF1A	NM_004321.7(KIF1A):c.3024G>A:p.Gln1008=	coding	Benign
2	240745830	G	A	G240745830A	KIF1A	NM_004321.7(KIF1A):c.2979C>T:p.His993=	coding	Benign
2	240745899	T	G	T240745899G	KIF1A	NM_004321.7(KIF1A):c.2910A>C:p.Pro970=	coding	Benign
2	240746031	C	T	C240746031T	KIF1A	NM_004321.7(KIF1A):c.2899+8G>A	noncoding	Benign
2	240746109	G	T	G240746109T	KIF1A	NM_004321.7(KIF1A):c.2829C>A:p.Ile943=	coding	Benign/Likely_benign
2	240746169	G	A	G240746169A	KIF1A	NM_004321.7(KIF1A):c.2769C>T:p.Ser923=	coding	Benign
2	240746256	C	T	C240746256T	KIF1A	NM_004321.7(KIF1A):c.2761-79G>A	noncoding	Benign
2	240746405	C	T	C240746405T	KIF1A	NM_004321.7(KIF1A):c.2761-228G>A	noncoding	Benign
2	240747372	G	A	G240747372A	KIF1A	NM_004321.7(KIF1A):c.2675-51C>T	noncoding	Benign
2	240750416	G	A	G240750416A	KIF1A	NM_004321.7(KIF1A):c.2674+13C>T	noncoding	Benign
2	240750565	C	T	C240750565T	KIF1A	NM_004321.7(KIF1A):c.2556-18G>A	noncoding	Benign
2	240750778	C	A	C240750778A	KIF1A	NM_004321.7(KIF1A):c.2556-231G>T	noncoding	Benign
2	240758239	T	C	T240758239C	KIF1A	NM_004321.7(KIF1A):c.2555+121A>G	noncoding	Benign
2	240758353	C	T	C240758353T	KIF1A	NM_004321.7(KIF1A):c.2555+7G>A	noncoding	Benign/Likely_benign
2	240758505	G	A	G240758505A	KIF1A	NM_004321.7(KIF1A):c.2418-8C>T	noncoding	Benign/Likely_benign
2	240760724	G	A	G240760724A	KIF1A	NM_004321.7(KIF1A):c.2358C>T:p.Ala786=	coding	Benign/Likely_benign
2	240760759	G	A	G240760759A	KIF1A	NM_004321.7(KIF1A):c.2323C>T:p.Arg775Ter	coding	Pathogenic/Likely_pathogenic
2	240760890	G	T	G240760890T	KIF1A	NM_004321.7(KIF1A):c.2239-47C>A	noncoding	Benign
2	240760901	C	T	C240760901T	KIF1A	NM_004321.7(KIF1A):c.2239-58G>A	noncoding	Benign
2	240761129	G	A	G240761129A	KIF1A	NM_004321.7(KIF1A):c.2238+100C>T	noncoding	Benign
2	240761259	G	A	G240761259A	KIF1A	NM_004321.7(KIF1A):c.2208C>T:p.Ala736=	coding	Benign
2	240762488	C	T	C240762488T	KIF1A	NM_004321.7(KIF1A):c.2089+231G>A	noncoding	Benign
2	240763087	G	A	G240763087A	KIF1A	NM_004321.7(KIF1A):c.1927C>T:p.Gln643Ter	coding	Pathogenic
2	240763144	T	A	T240763144A	KIF1A	NM_004321.7(KIF1A):c.1922+22A>T	noncoding	Benign
2	240766616	G	A	G240766616A	KIF1A	NM_004321.7(KIF1A):c.1657+299C>T	noncoding	Benign
2	240767340	T	C	T240767340C	KIF1A	NM_004321.7(KIF1A):c.1476A>G:p.Pro492=	coding	Benign/Likely_benign
2	240767600	C	T	C240767600T	KIF1A	NM_004321.7(KIF1A):c.1471-255G>A	noncoding	Benign
2	240769258	C	T	C240769258T	KIF1A	NM_004321.7(KIF1A):c.1395-50G>A	noncoding	Benign
2	240769618	G	A	G240769618A	KIF1A	NM_004321.7(KIF1A):c.1394+9C>T	noncoding	Benign/Likely_benign
2	240770666	A	G	A240770666G	KIF1A	NM_004321.7(KIF1A):c.1314+305T>C	noncoding	Benign
2	240771374	G	A	G240771374A	KIF1A	NM_004321.7(KIF1A):c.1181-270C>T	noncoding	Benign
2	240773254	T	C	T240773254C	KIF1A	NM_004321.7(KIF1A):c.1040A>G:p.Tyr347Cys	coding	Pathogenic
2	240773485	C	A	C240773485A	KIF1A	NM_004321.7(KIF1A):c.1038-229G>T	noncoding	Benign
2	240774012	T	C	T240774012C	KIF1A	NM_004321.7(KIF1A):c.1037+171A>G	noncoding	Benign
2	240774229	A	G	A240774229G	KIF1A	NM_004321.7(KIF1A):c.991T>C:p.Leu331=	coding	Benign
2	240775863	G	A	G240775863A	KIF1A	NM_004321.7(KIF1A):c.946C>T:p.Arg316Trp	coding	Pathogenic
2	240775889	C	T	C240775889T	KIF1A	NM_004321.7(KIF1A):c.920G>A:p.Arg307Gln	coding	Pathogenic/Likely_pathogenic
2	240775895	G	A	G240775895A	KIF1A	NM_004321.7(KIF1A):c.914C>T:p.Pro305Leu	coding	Pathogenic/Likely_pathogenic
2	240782785	G	A	G240782785A	KIF1A	NM_004321.7(KIF1A):c.865-178C>T	noncoding	Benign
2	240783028	G	A	G240783028A	KIF1A	NM_004321.7(KIF1A):c.864+16C>T	noncoding	Benign
2	240783087	G	A	G240783087A	KIF1A	NM_004321.7(KIF1A):c.821C>T:p.Ser274Leu	coding	Pathogenic/Likely_pathogenic
2	240783109	C	T	C240783109T	KIF1A	NM_004321.7(KIF1A):c.799G>A:p.Glu267Lys	coding	Pathogenic
2	240783196	A	G	A240783196G	KIF1A	NM_004321.7(KIF1A):c.799-87T>C	noncoding	Benign
2	240783344	A	G	A240783344G	KIF1A	NM_004321.7(KIF1A):c.799-235T>C	noncoding	Benign
2	240783553	G	A	G240783553A	KIF1A	NM_004321.7(KIF1A):c.798+186C>T	noncoding	Benign
2	240783764	G	A	G240783764A	KIF1A	NM_004321.7(KIF1A):c.773C>T:p.Thr258Met	coding	Pathogenic/Likely_pathogenic
2	240783773	G	A	G240783773A	KIF1A	NM_004321.7(KIF1A):c.764C>T:p.Ala255Val	coding	Pathogenic
2	240783776	C	G	C240783776G	KIF1A	NM_004321.7(KIF1A):c.761G>C:p.Arg254Pro	coding	Pathogenic
2	240783776	C	T	C240783776T	KIF1A	NM_004321.7(KIF1A):c.761G>A:p.Arg254Gln	coding	Pathogenic/Likely_pathogenic
2	240783777	G	A	G240783777A	KIF1A	NM_004321.7(KIF1A):c.760C>T:p.Arg254Trp	coding	Pathogenic/Likely_pathogenic
2	240783780	C	T	C240783780T	KIF1A	NM_004321.7(KIF1A):c.757G>A:p.Glu253Lys	coding	Pathogenic
2	240785059	G	C	G240785059C	KIF1A	NM_004321.7(KIF1A):c.650C>G:p.Ser217Cys	coding	Pathogenic
2	240785062	C	T	C240785062T	KIF1A	NM_004321.7(KIF1A):c.647G>A:p.Arg216His	coding	Pathogenic/Likely_pathogenic
2	240785063	G	A	G240785063A	KIF1A	NM_004321.7(KIF1A):c.646C>T:p.Arg216Cys	coding	Pathogenic
2	240785066	T	G	T240785066G	KIF1A	NM_004321.7(KIF1A):c.643A>C:p.Ser215Arg	coding	Pathogenic
2	240785091	C	T	C240785091T	KIF1A	NM_004321.7(KIF1A):c.618G>A:p.Ala206=	coding	Benign
2	240786220	G	A	G240786220A	KIF1A	NM_004321.7(KIF1A):c.608+115C>T	noncoding	Benign
2	240786300	G	A	G240786300A	KIF1A	NM_004321.7(KIF1A):c.608+35C>T	noncoding	Benign
2	240786348	C	T	C240786348T	KIF1A	NM_004321.8(KIF1A):c.595G>A:p.Gly199Arg	coding	Pathogenic/Likely_pathogenic
2	240786431	T	G	T240786431G	KIF1A	NM_004321.7(KIF1A):c.512A>C:p.His171Pro	coding	Pathogenic
2	240786437	C	T	C240786437T	KIF1A	NM_004321.7(KIF1A):c.506G>A:p.Arg169Lys	coding	Pathogenic
2	240786791	G	A	G240786791A	KIF1A	NM_004321.7(KIF1A):c.430-278C>T	noncoding	Benign
2	240786796	G	A	G240786796A	KIF1A	NM_004321.7(KIF1A):c.430-283C>T	noncoding	Benign
2	240786802	T	C	T240786802C	KIF1A	NM_004321.7(KIF1A):c.430-289A>G	noncoding	Benign
2	240786803	G	A	G240786803A	KIF1A	NM_004321.7(KIF1A):c.430-290C>T	noncoding	Benign
2	240786821	T	A	T240786821A	KIF1A	NM_004321.7(KIF1A):c.430-308A>T	noncoding	Benign
2	240786825	A	G	A240786825G	KIF1A	NM_004321.7(KIF1A):c.430-312T>C	noncoding	Benign
2	240786984	C	T	C240786984T	KIF1A	NM_004321.7(KIF1A):c.429+267G>A	noncoding	Benign
2	240787229	A	G	A240787229G	KIF1A	NM_004321.7(KIF1A):c.429+22T>C	noncoding	Benign
2	240787287	G	A	G240787287A	KIF1A	NM_004321.7(KIF1A):c.393C>T:p.Asn131=	coding	Benign
2	240788031	G	C	G240788031C	KIF1A	NM_004321.7(KIF1A):c.363+20C>G	noncoding	Benign
2	240788035	G	C	G240788035C	KIF1A	NM_004321.7(KIF1A):c.363+16C>G	noncoding	Benign
2	240788064	C	A	C240788064A	KIF1A	NM_004321.7(KIF1A):c.350G>T:p.Gly117Val	coding	Pathogenic
2	240788106	T	G	T240788106G	KIF1A	NM_004321.7(KIF1A):c.308A>C:p.Lys103Thr	coding	Pathogenic
2	240788110	C	T	C240788110T	KIF1A	NM_004321.7(KIF1A):c.304G>A:p.Gly102Ser	coding	Pathogenic/Likely_pathogenic
2	240788118	G	A	G240788118A	KIF1A	NM_004321.7(KIF1A):c.296C>T:p.Thr99Met	coding	Pathogenic
2	240788149	A	C	A240788149C	KIF1A	NM_004321.7(KIF1A):c.265T>G:p.Tyr89Asp	coding	Pathogenic
2	240788180	G	A	G240788180A	KIF1A	NM_004321.7(KIF1A):c.234C>T:p.Gly78=	coding	Benign
2	240788183	G	A	G240788183A	KIF1A	NM_004321.7(KIF1A):c.231C>T:p.Ile77=	coding	Benign/Likely_benign
2	240788208	G	A	G240788208A	KIF1A	NM_004321.7(KIF1A):c.206C>T:p.Ser69Leu	coding	Pathogenic/Likely_pathogenic
2	240788240	G	A	G240788240A	KIF1A	NM_004321.7(KIF1A):c.184-10C>T	noncoding	Benign/Likely_benign
2	240789221	G	A	G240789221A	KIF1A	NM_004321.7(KIF1A):c.183+15C>T	noncoding	Benign
2	240789246	G	A	G240789246A	KIF1A	NM_004321.7(KIF1A):c.173C>T:p.Ser58Leu	coding	Pathogenic/Likely_pathogenic
2	240789426	C	T	C240789426T	KIF1A	NM_004321.7(KIF1A):c.107-114G>A	noncoding	Benign
2	240797600	C	A	C240797600A	KIF1A	NM_004321.7(KIF1A):c.106+47G>T	noncoding	Benign
2	240797715	C	T	C240797715T	KIF1A	NM_004321.7(KIF1A):c.38G>A:p.Arg13His	coding	Pathogenic/Likely_pathogenic
2	240868843	G	A	G240868843A	AGXT	NM_000030.3(AGXT):c.-23G>A	noncoding	Benign
2	240868867	T	C	T240868867C	AGXT	NM_000030.3(AGXT):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
2	240868868	G	T	G240868868T	AGXT	NM_000030.3(AGXT):c.3G>T:p.Met1Ile	coding	Pathogenic
2	240868887	G	C	G240868887C	AGXT	NM_000030.3(AGXT):c.22G>C:p.Val8Leu	coding	Pathogenic
2	240868891	C	A	C240868891A	AGXT	NM_000030.3(AGXT):c.26C>A:p.Thr9Asn	coding	Benign/Likely_benign
2	240868893	C	T	C240868893T	AGXT	NM_000030.3(AGXT):c.28C>T:p.Pro10Ser	coding	Pathogenic
2	240868897	C	T	C240868897T	AGXT	NM_000030.3(AGXT):c.32C>T:p.Pro11Leu	coding	Benign/Likely_benign
2	240868930	A	G	A240868930G	AGXT	NM_000030.3(AGXT):c.65A>G:p.Asn22Ser	coding	Benign
2	240868932	C	T	C240868932T	AGXT	NM_000030.3(AGXT):c.67C>T:p.Gln23Ter	coding	Pathogenic
2	240868939	T	G	T240868939G	AGXT	NM_000030.3(AGXT):c.74T>G:p.Leu25Arg	coding	Pathogenic
2	240868942	T	C	T240868942C	AGXT	NM_000030.3(AGXT):c.77T>C:p.Leu26Pro	coding	Pathogenic
2	240868971	C	T	C240868971T	AGXT	NM_000030.3(AGXT):c.106C>T:p.Arg36Cys	coding	Pathogenic/Likely_pathogenic
2	240868972	G	A	G240868972A	AGXT	NM_000030.3(AGXT):c.107G>A:p.Arg36His	coding	Pathogenic
2	240868986	G	A	G240868986A	AGXT	NM_000030.3(AGXT):c.121G>A:p.Gly41Arg	coding	Pathogenic
2	240868987	G	A	G240868987A	AGXT	NM_000030.3(AGXT):c.122G>A:p.Gly41Glu	coding	Pathogenic
2	240868990	G	A	G240868990A	AGXT	NM_000030.3(AGXT):c.125G>A:p.Gly42Glu	coding	Pathogenic
2	240869004	G	A	G240869004A	AGXT	NM_000030.3(AGXT):c.139G>A:p.Gly47Arg	coding	Pathogenic
2	240869046	A	G	A240869046G	AGXT	NM_000030.3(AGXT):c.165+16A>G	noncoding	Benign
2	240869070	A	C	A240869070C	AGXT	NM_000030.3(AGXT):c.165+40A>C	noncoding	Benign
2	240869156	C	T	C240869156T	AGXT	NM_000030.3(AGXT):c.166-14C>T	noncoding	Benign/Likely_benign
2	240869169	G	A	G240869169A	AGXT	NM_000030.3(AGXT):c.166-1G>A	noncoding	Pathogenic
2	240869171	T	A	T240869171A	AGXT	NM_000030.3(AGXT):c.167T>A:p.Ile56Asn	coding	Pathogenic
2	240869179	G	A	G240869179A	AGXT	NM_000030.3(AGXT):c.175G>A:p.Glu59Lys	coding	Pathogenic
2	240869191	G	C	G240869191C	AGXT	NM_000030.3(AGXT):c.187G>C:p.Gly63Arg	coding	Pathogenic
2	240869202	C	G	C240869202G	AGXT	NM_000030.3(AGXT):c.198C>G:p.Tyr66Ter	coding	Pathogenic
2	240869209	C	T	C240869209T	AGXT	NM_000030.3(AGXT):c.205C>T:p.Gln69Ter	coding	Pathogenic
2	240869213	C	A	C240869213A	AGXT	NM_000030.3(AGXT):c.209C>A:p.Thr70Asn	coding	Pathogenic
2	240869246	C	A	C240869246A	AGXT	NM_000030.3(AGXT):c.242C>A:p.Ser81Ter	coding	Pathogenic
2	240869246	C	T	C240869246T	AGXT	NM_000030.3(AGXT):c.242C>T:p.Ser81Leu	coding	Pathogenic
2	240869248	G	C	G240869248C	AGXT	NM_000030.3(AGXT):c.244G>C:p.Gly82Arg	coding	Pathogenic
2	240869252	A	G	A240869252G	AGXT	NM_000030.3(AGXT):c.248A>G:p.His83Arg	coding	Pathogenic
2	240869258	C	A	C240869258A	AGXT	NM_000030.3(AGXT):c.254C>A:p.Ala85Asp	coding	Pathogenic
2	240869268	C	T	C240869268T	AGXT	NM_000030.3(AGXT):c.264C>T:p.Ala88=	coding	Benign
2	240869287	G	A	G240869287A	AGXT	NM_000030.3(AGXT):c.283G>A:p.Glu95Lys	coding	Pathogenic
2	240869306	T	C	T240869306C	AGXT	NM_000030.3(AGXT):c.302T>C:p.Leu101Pro	coding	Pathogenic/Likely_pathogenic
2	240869326	T	C	T240869326C	AGXT	NM_000030.3(AGXT):c.322T>C:p.Trp108Arg	coding	Pathogenic/Likely_pathogenic
2	240869327	G	A	G240869327A	AGXT	NM_000030.3(AGXT):c.323G>A:p.Trp108Ter	coding	Pathogenic
2	240869328	G	T	G240869328T	AGXT	NM_000030.3(AGXT):c.324G>T:p.Trp108Cys	coding	Pathogenic
2	240869330	G	T	G240869330T	AGXT	NM_000030.3(AGXT):c.326G>T:p.Gly109Val	coding	Pathogenic
2	240869335	C	T	C240869335T	AGXT	NM_000030.3(AGXT):c.331C>T:p.Arg111Ter	coding	Pathogenic
2	240869336	G	A	G240869336A	AGXT	NM_000030.3(AGXT):c.332G>A:p.Arg111Gln	coding	Pathogenic
2	240869339	C	A	C240869339A	AGXT	NM_000030.3(AGXT):c.335C>A:p.Ala112Asp	coding	Pathogenic
2	240869353	G	T	G240869353T	AGXT	NM_000030.3(AGXT):c.349G>T:p.Glu117Ter	coding	Pathogenic
2	240869357	G	A	G240869357A	AGXT	NM_000030.3(AGXT):c.353G>A:p.Arg118His	coding	Pathogenic
2	240869363	G	T	G240869363T	AGXT	NM_000030.3(AGXT):c.358+1G>T	coding	Pathogenic
2	240869364	T	G	T240869364G	AGXT	NM_000030.3(AGXT):c.358+2T>G	noncoding	Pathogenic
2	240869375	C	T	C240869375T	AGXT	NM_000030.3(AGXT):c.358+13C>T	noncoding	Benign
2	240870649	C	T	C240870649T	AGXT	NM_000030.3(AGXT):c.364C>T:p.Arg122Ter	coding	Pathogenic
2	240870656	A	C	A240870656C	AGXT	NM_000030.3(AGXT):c.371A>C:p.His124Pro	coding	Pathogenic
2	240870694	C	T	C240870694T	AGXT	NM_000030.3(AGXT):c.409C>T:p.Gln137Ter	coding	Pathogenic
2	240870708	G	T	G240870708T	AGXT	NM_000030.3(AGXT):c.423G>T:p.Glu141Asp	coding	Pathogenic
2	240871347	A	G	A240871347G	AGXT	NM_000030.3(AGXT):c.424-2A>G	noncoding	Pathogenic
2	240871374	T	C	T240871374C	AGXT	NM_000030.3(AGXT):c.449T>C:p.Leu150Pro	coding	Pathogenic
2	240871379	T	A	T240871379A	AGXT	NM_000030.3(AGXT):c.454T>A:p.Phe152Ile	coding	Pathogenic
2	240871382	T	G	T240871382G	AGXT	NM_000030.3(AGXT):c.457T>G:p.Leu153Val	coding	Pathogenic
2	240871391	G	A	G240871391A	AGXT	NM_000030.3(AGXT):c.466G>A:p.Gly156Arg	coding	Pathogenic
2	240871391	G	C	G240871391C	AGXT	NM_000030.3(AGXT):c.466G>C:p.Gly156Arg	coding	Pathogenic
2	240871398	C	A	C240871398A	AGXT	NM_000030.3(AGXT):c.473C>A:p.Ser158Ter	coding	Pathogenic
2	240871398	C	T	C240871398T	AGXT	NM_000030.3(AGXT):c.473C>T:p.Ser158Leu	coding	Pathogenic/Likely_pathogenic
2	240871406	G	A	G240871406A	AGXT	NM_000030.3(AGXT):c.481G>A:p.Gly161Ser	coding	Pathogenic
2	240871406	G	C	G240871406C	AGXT	NM_000030.3(AGXT):c.481G>C:p.Gly161Arg	coding	Pathogenic
2	240871406	G	T	G240871406T	AGXT	NM_000030.3(AGXT):c.481G>T:p.Gly161Cys	coding	Pathogenic/Likely_pathogenic
2	240871422	T	C	T240871422C	AGXT	NM_000030.3(AGXT):c.497T>C:p.Leu166Pro	coding	Pathogenic
2	240871433	G	A	G240871433A	AGXT	NM_000030.3(AGXT):c.508G>A:p.Gly170Arg	coding	Pathogenic/Likely_pathogenic
2	240871443	G	A	G240871443A	AGXT	NM_000030.3(AGXT):c.518G>A:p.Cys173Tyr	coding	Pathogenic
2	240871444	C	A	C240871444A	AGXT	NM_000030.3(AGXT):c.519C>A:p.Cys173Ter	coding	Pathogenic
2	240872978	G	A	G240872978A	AGXT	NM_000030.3(AGXT):c.525-1G>A	noncoding	Pathogenic
2	240873001	G	A	G240873001A	AGXT	NM_000030.3(AGXT):c.547G>A:p.Asp183Asn	coding	Pathogenic
2	240873011	C	T	C240873011T	AGXT	NM_000030.3(AGXT):c.557C>T:p.Ala186Val	coding	Benign/Likely_benign
2	240873022	G	A	G240873022A	AGXT	NM_000030.3(AGXT):c.568G>A:p.Gly190Arg	coding	Pathogenic/Likely_pathogenic
2	240873027	C	T	C240873027T	AGXT	NM_000030.3(AGXT):c.573C>T:p.Thr191=	coding	Benign
2	240873037	A	C	A240873037C	AGXT	NM_000030.3(AGXT):c.583A>C:p.Met195Leu	coding	Pathogenic
2	240873038	T	G	T240873038G	AGXT	NM_000030.3(AGXT):c.584T>G:p.Met195Arg	coding	Pathogenic
2	240873044	G	A	G240873044A	AGXT	NM_000030.3(AGXT):c.590G>A:p.Arg197Gln	coding	Benign/Likely_benign
2	240873049	G	A	G240873049A	AGXT	NM_000030.3(AGXT):c.595G>A:p.Gly199Ser	coding	Pathogenic
2	240873976	A	G	A240873976G	AGXT	NM_000030.3(AGXT):c.596-2A>G	noncoding	Pathogenic
2	240873985	C	A	C240873985A	AGXT	NM_000030.3(AGXT):c.603C>A:p.Asp201Glu	coding	Pathogenic
2	240873987	T	A	T240873987A	AGXT	NM_000030.3(AGXT):c.605T>A:p.Ile202Asn	coding	Pathogenic
2	240873994	C	A	C240873994A	AGXT	NM_000030.3(AGXT):c.612C>A:p.Tyr204Ter	coding	Pathogenic
2	240873995	T	C	T240873995C	AGXT	NM_000030.3(AGXT):c.613T>C:p.Ser205Pro	coding	Pathogenic
2	240873996	C	A	C240873996A	AGXT	NM_000030.3(AGXT):c.614C>A:p.Ser205Ter	coding	Pathogenic
2	240873996	C	T	C240873996T	AGXT	NM_000030.3(AGXT):c.614C>T:p.Ser205Leu	coding	Pathogenic
2	240874010	G	C	G240874010C	AGXT	NM_000030.3(AGXT):c.628G>C:p.Ala210Pro	coding	Pathogenic
2	240874028	G	A	G240874028A	AGXT	NM_000030.3(AGXT):c.646G>A:p.Gly216Arg	coding	Pathogenic
2	240874036	G	A	G240874036A	AGXT	NM_000030.3(AGXT):c.654G>A:p.Ser218=	coding	Benign
2	240874043	T	C	T240874043C	AGXT	NM_000030.3(AGXT):c.661T>C:p.Ser221Pro	coding	Pathogenic
2	240874063	G	A	G240874063A	AGXT	NM_000030.3(AGXT):c.680+1G>A	coding	Pathogenic
2	240874063	G	C	G240874063C	AGXT	NM_000030.3(AGXT):c.680+1G>C	coding	Pathogenic
2	240874064	T	A	T240874064A	AGXT	NM_000030.3(AGXT):c.680+2T>A	noncoding	Pathogenic
2	240874067	G	C	G240874067C	AGXT	NM_000030.3(AGXT):c.680+5G>C	noncoding	Pathogenic
2	240874079	C	T	C240874079T	AGXT	NM_000030.3(AGXT):c.680+17C>T	noncoding	Benign
2	240875125	C	T	C240875125T	AGXT	NM_000030.3(AGXT):c.697C>T:p.Arg233Cys	coding	Pathogenic/Likely_pathogenic
2	240875126	G	T	G240875126T	AGXT	NM_000030.3(AGXT):c.698G>T:p.Arg233Leu	coding	Pathogenic
2	240875133	G	A	G240875133A	AGXT	NM_000030.3(AGXT):c.705G>A:p.Thr235=	coding	Benign
2	240875155	G	C	G240875155C	AGXT	NM_000030.3(AGXT):c.727G>C:p.Asp243His	coding	Pathogenic
2	240875159	T	C	T240875159C	AGXT	NM_000030.3(AGXT):c.731T>C:p.Ile244Thr	coding	Pathogenic
2	240875160	C	A	C240875160A	AGXT	NM_000030.3(AGXT):c.732C>A:p.Ile244=	coding	Benign/Likely_benign
2	240875166	G	A	G240875166A	AGXT	NM_000030.3(AGXT):c.738G>A:p.Trp246Ter	coding	Pathogenic
2	240875181	G	A	G240875181A	AGXT	NM_000030.3(AGXT):c.753G>A:p.Trp251Ter	coding	Pathogenic
2	240875185	T	C	T240875185C	AGXT	NM_000030.3(AGXT):c.757T>C:p.Cys253Arg	coding	Pathogenic
2	240875205	G	A	G240875205A	AGXT	NM_000030.3(AGXT):c.776+1G>A	coding	Pathogenic
2	240875205	G	C	G240875205C	AGXT	NM_000030.3(AGXT):c.776+1G>C	coding	Pathogenic
2	240875933	A	G	A240875933G	AGXT	NM_000030.3(AGXT):c.777-2A>G	noncoding	Pathogenic
2	240875934	G	C	G240875934C	AGXT	NM_000030.3(AGXT):c.777-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	240875941	T	A	T240875941A	AGXT	NM_000030.3(AGXT):c.783T>A:p.His261Gln	coding	Pathogenic
2	240875963	C	T	C240875963T	AGXT	NM_000030.3(AGXT):c.805C>T:p.Leu269=	coding	Benign
2	240875964	T	C	T240875964C	AGXT	NM_000030.3(AGXT):c.806T>C:p.Leu269Pro	coding	Pathogenic
2	240875981	A	C	A240875981C	AGXT	NM_000030.3(AGXT):c.823A>C:p.Ser275Arg	coding	Pathogenic
2	240875994	T	C	T240875994C	AGXT	NM_000030.3(AGXT):c.836T>C:p.Ile279Thr	coding	Benign/Likely_benign
2	240875997	C	T	C240875997T	AGXT	NM_000030.3(AGXT):c.839C>T:p.Ala280Val	coding	Benign
2	240875999	G	T	G240875999T	AGXT	NM_000030.3(AGXT):c.841G>T:p.Glu281Ter	coding	Pathogenic
2	240876002	C	T	C240876002T	AGXT	NM_000030.3(AGXT):c.844C>T:p.Gln282Ter	coding	Pathogenic
2	240876004	G	C	G240876004C	AGXT	NM_000030.3(AGXT):c.846G>C:p.Gln282His	coding	Pathogenic
2	240876005	G	A	G240876005A	AGXT	NM_000030.3(AGXT):c.846+1G>A	coding	Pathogenic
2	240876005	G	T	G240876005T	AGXT	NM_000030.3(AGXT):c.846+1G>T	coding	Pathogenic
2	240877534	C	G	C240877534G	AGXT	NM_000030.3(AGXT):c.847-3C>G	noncoding	Pathogenic
2	240877541	T	C	T240877541C	AGXT	NM_000030.3(AGXT):c.851T>C:p.Leu284Pro	coding	Pathogenic
2	240877543	G	T	G240877543T	AGXT	NM_000030.3(AGXT):c.853G>T:p.Glu285Ter	coding	Pathogenic
2	240877583	T	C	T240877583C	AGXT	NM_000030.3(AGXT):c.893T>C:p.Leu298Pro	coding	Pathogenic
2	240877612	C	T	C240877612T	AGXT	NM_000030.3(AGXT):c.922C>T:p.Gln308Ter	coding	Pathogenic
2	240877633	G	T	G240877633T	AGXT	NM_000030.3(AGXT):c.942+1G>T	coding	Pathogenic
2	240878021	G	A	G240878021A	AGXT	NM_000030.3(AGXT):c.943-1G>A	noncoding	Pathogenic
2	240878026	T	C	T240878026C	AGXT	NM_000030.3(AGXT):c.947T>C:p.Leu316Pro	coding	Pathogenic
2	240878035	C	T	C240878035T	AGXT	NM_000030.3(AGXT):c.956C>T:p.Pro319Leu	coding	Pathogenic
2	240878055	G	A	G240878055A	AGXT	NM_000030.3(AGXT):c.976G>A:p.Val326Ile	coding	Benign
2	240878076	A	T	A240878076T	AGXT	NM_000030.3(AGXT):c.997A>T:p.Arg333Ter	coding	Pathogenic
2	240878086	T	A	T240878086A	AGXT	NM_000030.3(AGXT):c.1007T>A:p.Val336Asp	coding	Pathogenic
2	240878093	C	G	C240878093G	AGXT	NM_000030.3(AGXT):c.1014C>G:p.Tyr338Ter	coding	Pathogenic
2	240878099	A	G	A240878099G	AGXT	NM_000030.3(AGXT):c.1020A>G:p.Ile340Met	coding	Benign/Likely_benign
2	240878102	C	A	C240878102A	AGXT	NM_000030.3(AGXT):c.1023C>A:p.Asp341Glu	coding	Benign
2	240878124	G	A	G240878124A	AGXT	NM_000030.3(AGXT):c.1045G>A:p.Gly349Ser	coding	Pathogenic
2	240878151	G	A	G240878151A	AGXT	NM_000030.3(AGXT):c.1071+1G>A	coding	Pathogenic
2	240878718	T	C	T240878718C	AGXT	NM_000030.3(AGXT):c.1076T>C:p.Leu359Pro	coding	Pathogenic
2	240878744	G	A	G240878744A	AGXT	NM_000030.3(AGXT):c.1102G>A:p.Ala368Thr	coding	Pathogenic
2	240878790	C	A	C240878790A	AGXT	NM_000030.3(AGXT):c.1148C>A:p.Ala383Asp	coding	Pathogenic
2	240878793	T	C	T240878793C	AGXT	NM_000030.3(AGXT):c.1151T>C:p.Leu384Pro	coding	Pathogenic
2	240878862	C	A	C240878862A	AGXT	NM_000030.3(AGXT):c.*41C>A	noncoding	Benign
2	240879110	A	C	A240879110C	AGXT	NM_000030.3(AGXT):c.*289A>C	noncoding	Benign
2	241034585	C	G	C241034585G	SNED1	NM_001080437.3(SNED1):c.660C>G:p.Gly220=	coding	Benign
2	241037292	C	T	C241037292T	SNED1	NM_001080437.3(SNED1):c.984C>T:p.His328=	coding	Benign
2	241040361	G	T	G241040361T	SNED1	NM_001080437.3(SNED1):c.1221G>T:p.Gly407=	coding	Benign
2	241064938	G	A	G241064938A	SNED1	NM_001080437.3(SNED1):c.2694G>A:p.Thr898=	coding	Benign
2	241070110	G	A	G241070110A	SNED1	NM_001080437.3(SNED1):c.3498G>A:p.Pro1166=	coding	Benign
2	241073344	A	G	A241073344G	SNED1	NM_001080437.3(SNED1):c.3896A>G:p.His1299Arg	coding	Benign
2	241073367	G	A	G241073367A	SNED1	NM_001080437.3(SNED1):c.3916+3G>A	noncoding	Benign
2	241106582	C	T	C241106582T	PASK	NM_015148.4(PASK):c.3956G>A:p.Arg1319His	coding	Benign
2	241106611	G	A	G241106611A	PASK	NM_015148.4(PASK):c.3927C>T:p.Gly1309=	coding	Benign
2	241124043	C	T	C241124043T	PASK	NM_015148.4(PASK):c.2810G>A:p.Arg937His	coding	Benign
2	241126220	A	G	A241126220G	PASK	NM_015148.4(PASK):c.2695T>C:p.Tyr899His	coding	Benign
2	241126341	C	T	C241126341T	PASK	NM_015148.4(PASK):c.2574G>A:p.Thr858=	coding	Benign
2	241126366	G	A	G241126366A	PASK	NM_015148.4(PASK):c.2549C>T:p.Thr850Met	coding	Benign
2	241126383	T	C	T241126383C	PASK	NM_015148.4(PASK):c.2532A>G:p.Pro844=	coding	Benign
2	241126548	C	T	C241126548T	PASK	NM_015148.4(PASK):c.2367G>A:p.Ser789=	coding	Benign
2	241126571	C	G	C241126571G	PASK	NM_015148.4(PASK):c.2344G>C:p.Gly782Arg	coding	Benign
2	241126830	C	G	C241126830G	PASK	NM_015148.4(PASK):c.2085G>C:p.Ser695=	coding	Benign
2	241126835	C	T	C241126835T	PASK	NM_015148.4(PASK):c.2080G>A:p.Val694Met	coding	Benign
2	241132974	G	A	G241132974A	PASK	NM_015148.4(PASK):c.1363C>T:p.Arg455Trp	coding	Benign
2	241138679	G	A	G241138679A	PASK	NM_015148.4(PASK):c.716C>T:p.Ser239Leu	coding	Benign
2	241140050	C	G	C241140050G	PASK	NM_015148.4(PASK):c.435G>C:p.Leu145=	coding	Benign
2	241140647	C	T	C241140647T	PASK	NM_015148.4(PASK):c.303G>A:p.Pro101=	coding	Benign
2	241182715	A	G	A241182715G	PPP1R7	NM_002712.3(PPP1R7):c.975A>G:p.Thr325=	coding	Benign
2	241239892	G	A	G241239892A	HDLBP	NM_005336.5(HDLBP):c.2391+9C>T	noncoding	Benign
2	241240094	C	T	C241240094T	HDLBP	NM_005336.5(HDLBP):c.2198G>A:p.Arg733His	coding	Benign
2	241240105	A	G	A241240105G	HDLBP	NM_005336.5(HDLBP):c.2187T>C:p.Thr729=	coding	Benign
2	241242667	G	A	G241242667A	HDLBP	NM_005336.5(HDLBP):c.1962C>T:p.Ala654=	coding	Benign
2	241249964	G	A	G241249964A	HDLBP	NM_005336.5(HDLBP):c.1389C>T:p.Asp463=	coding	Benign
2	241253501	C	T	C241253501T	HDLBP	NM_005336.5(HDLBP):c.1189-4G>A	noncoding	Benign
2	241255132	G	A	G241255132A	HDLBP	NM_005336.5(HDLBP):c.1107C>T:p.Val369=	coding	Benign
2	241256304	C	G	C241256304G	HDLBP	NM_005336.5(HDLBP):c.753G>C:p.Glu251Asp	coding	Benign
2	241264600	T	C	T241264600C	HDLBP	NM_005336.5(HDLBP):c.82A>G:p.Thr28Ala	coding	Benign
2	241337694	G	A	G241337694A	SEPTIN2	NM_004404.5(SEPTIN2):c.498G>A:p.Ala166=	coding	Benign
2	241373128	A	C	A241373128C	FARP2	NM_014808.4(FARP2):c.21A>C:p.Thr7=	coding	Benign
2	241373241	A	G	A241373241G	FARP2	NM_014808.4(FARP2):c.134A>G:p.His45Arg	coding	Benign
2	241413302	C	G	C241413302G	FARP2	NM_014808.4(FARP2):c.509-5C>G	noncoding	Benign
2	241435038	C	T	C241435038T	FARP2	NM_014808.4(FARP2):c.1100+8C>T	noncoding	Benign
2	241441561	C	T	C241441561T	FARP2	NM_014808.4(FARP2):c.1411+5C>T	noncoding	Benign
2	241462601	G	A	G241462601A	FARP2	NM_014808.4(FARP2):c.1666G>A:p.Val556Ile	coding	Benign
2	241475910	C	T	C241475910T	FARP2	NM_014808.4(FARP2):c.2185C>T:p.Arg729Trp	coding	Benign
2	241490012	C	T	C241490012T	FARP2	NM_014808.4(FARP2):c.2472C>T:p.Tyr824=	coding	Benign
2	241491080	A	C	A241491080C	FARP2	NM_014808.4(FARP2):c.2524A>C:p.Lys842Gln	coding	Benign
2	241491100	C	T	C241491100T	FARP2	NM_014808.4(FARP2):c.2544C>T:p.Asn848=	coding	Benign
2	241491173	C	T	C241491173T	FARP2	NM_014808.4(FARP2):c.2617C>T:p.Pro873Ser	coding	Benign
2	241651116	C	T	C241651116T	ATG4B	NM_013325.5(ATG4B):c.112+5C>T	noncoding	Benign
2	241686681	G	A	G241686681A	DTYMK	NM_012145.4(DTYMK):c.103C>T:p.His35Tyr	coding	Benign
2	241709346	C	T	C241709346T	ING5	NM_032329.6(ING5):c.240C>T:p.Asp80=	coding	Benign
2	241734689	A	G	A241734689G	D2HGDH	NM_152783.5(D2HGDH):c.-99A>G	noncoding	Benign
2	241735134	C	G	C241735134G	D2HGDH	NM_152783.5(D2HGDH):c.-91C>G	noncoding	Benign
2	241735267	C	G	C241735267G	D2HGDH	NM_152783.5(D2HGDH):c.43C>G:p.Arg15Gly	coding	Benign/Likely_benign
2	241735388	G	A	G241735388A	D2HGDH	NM_152783.5(D2HGDH):c.164G>A:p.Arg55Gln	coding	Benign/Likely_benign
2	241735525	G	A	G241735525A	D2HGDH	NM_152783.5(D2HGDH):c.292+9G>A	noncoding	Benign/Likely_benign
2	241741010	A	G	A241741010G	D2HGDH	NM_152783.5(D2HGDH):c.293-23A>G	noncoding	Pathogenic
2	241742524	T	G	T241742524G	D2HGDH	NM_152783.5(D2HGDH):c.440T>G:p.Ile147Ser	coding	Pathogenic
2	241743671	T	G	T241743671G	D2HGDH	NM_152783.5(D2HGDH):c.540T>G:p.Tyr180Ter	coding	Pathogenic
2	241744700	T	C	T241744700C	D2HGDH	NM_152783.5(D2HGDH):c.685-9T>C	noncoding	Benign/Likely_benign
2	241744707	A	G	A241744707G	D2HGDH	NM_152783.5(D2HGDH):c.685-2A>G	noncoding	Pathogenic
2	241748951	C	T	C241748951T	D2HGDH	NM_152783.5(D2HGDH):c.854-1200C>T	noncoding	Benign
2	241750287	G	A	G241750287A	D2HGDH	NM_152783.5(D2HGDH):c.990G>A:p.Pro330=	coding	Benign
2	241751260	G	A	G241751260A	D2HGDH	NM_152783.5(D2HGDH):c.1012G>A:p.Val338Ile	coding	Benign/Likely_benign
2	241751311	G	A	G241751311A	D2HGDH	NM_152783.5(D2HGDH):c.1063G>A:p.Gly355Ser	coding	Benign/Likely_benign
2	241751314	C	T	C241751314T	D2HGDH	NM_152783.5(D2HGDH):c.1066C>T:p.His356Tyr	coding	Benign/Likely_benign
2	241751330	C	T	C241751330T	D2HGDH	NM_152783.5(D2HGDH):c.1082C>T:p.Ala361Val	coding	Benign/Likely_benign
2	241751355	T	C	T241751355C	D2HGDH	NM_152783.5(D2HGDH):c.1107T>C:p.Asp369=	coding	Benign/Likely_benign
2	241751371	G	T	G241751371T	D2HGDH	NM_152783.5(D2HGDH):c.1123G>T:p.Asp375Tyr	coding	Pathogenic
2	241767695	C	T	C241767695T	D2HGDH	NM_152783.5(D2HGDH):c.1307-15C>T	noncoding	Benign
2	241767711	A	G	A241767711G	D2HGDH	NM_152783.5(D2HGDH):c.1308A>G:p.Gly436=	coding	Benign/Likely_benign
2	241767718	A	G	A241767718G	D2HGDH	NM_152783.5(D2HGDH):c.1315A>G:p.Asn439Asp	coding	Pathogenic
2	241767734	T	C	T241767734C	D2HGDH	NM_152783.5(D2HGDH):c.1331T>C:p.Val444Ala	coding	Pathogenic
2	241767780	C	A	C241767780A	D2HGDH	NM_152783.5(D2HGDH):c.1377C>A:p.Pro459=	coding	Benign
2	241767789	C	T	C241767789T	D2HGDH	NM_152783.5(D2HGDH):c.1386C>T:p.Tyr462=	coding	Benign/Likely_benign
2	241767798	G	A	G241767798A	D2HGDH	NM_152783.5(D2HGDH):c.1395G>A:p.Thr465=	coding	Benign/Likely_benign
2	241767879	G	A	G241767879A	D2HGDH	NM_152783.5(D2HGDH):c.1476G>A:p.Pro492=	coding	Benign
2	241767995	C	T	C241767995T	D2HGDH	NM_152783.5(D2HGDH):c.*26C>T	noncoding	Benign
2	241767996	C	T	C241767996T	D2HGDH	NM_152783.5(D2HGDH):c.*27C>T	noncoding	Benign
2	241768062	T	C	T241768062C	D2HGDH	NM_152783.5(D2HGDH):c.*93T>C	noncoding	Benign
2	241768223	G	A	G241768223A	D2HGDH	NM_152783.5(D2HGDH):c.*254G>A	noncoding	Benign
2	241768235	G	A	G241768235A	D2HGDH	NM_152783.5(D2HGDH):c.*266G>A	noncoding	Benign
2	241768396	G	A	G241768396A	D2HGDH	NM_152783.5(D2HGDH):c.*427G>A	noncoding	Benign
2	241768402	G	T	G241768402T	D2HGDH	NM_152783.5(D2HGDH):c.*433G>T	noncoding	Benign
2	241768418	C	T	C241768418T	D2HGDH	NM_152783.5(D2HGDH):c.*449C>T	noncoding	Benign
2	241768630	C	T	C241768630T	D2HGDH	NM_152783.5(D2HGDH):c.*661C>T	noncoding	Benign
2	241768657	G	A	G241768657A	D2HGDH	NM_152783.5(D2HGDH):c.*688G>A	noncoding	Benign
2	241768747	C	T	C241768747T	D2HGDH	NM_152783.5(D2HGDH):c.*778C>T	noncoding	Benign
2	241768770	A	G	A241768770G	D2HGDH	NM_152783.5(D2HGDH):c.*801A>G	noncoding	Benign
2	241858753	C	T	C241858753T	PDCD1	NM_005018.3(PDCD1):c.76+10G>A	noncoding	Benign
2	241871734	C	T	C241871734T	RTP5	NM_173821.3(RTP5):c.179C>T:p.Pro60Leu	coding	Benign
3	319864	T	G	T319864G	CHL1	NM_006614.4(CHL1):c.88T>G:p.Ser30Ala	coding	Benign
3	325956	T	A	T325956A	CHL1	NM_006614.4(CHL1):c.92-3T>A	noncoding	Benign
3	328173	G	A	G328173A	CHL1	NM_006614.4(CHL1):c.204G>A:p.Ser68=	coding	Benign
3	328248	G	A	G328248A	CHL1	NM_006614.4(CHL1):c.279G>A:p.Arg93=	coding	Benign
3	342051	G	A	G342051A	CHL1	NM_006614.4(CHL1):c.648G>A:p.Gln216=	coding	Benign
3	343008	C	T	C343008T	CHL1	NM_006614.4(CHL1):c.704C>T:p.Ser235Leu	coding	Benign
3	349456	G	A	G349456A	CHL1	NM_006614.4(CHL1):c.946G>A:p.Val316Ile	coding	Benign
3	360434	C	A	C360434A	CHL1	NM_006614.4(CHL1):c.1306+10C>A	noncoding	Benign
3	360434	C	T	C360434T	CHL1	NM_006614.4(CHL1):c.1306+10C>T	noncoding	Benign
3	361787	T	C	T361787C	CHL1	NM_006614.4(CHL1):c.1395T>C:p.Ala465=	coding	Benign
3	382595	C	T	C382595T	CHL1	NM_006614.4(CHL1):c.2100C>T:p.Phe700=	coding	Benign
3	389282	G	C	G389282C	CHL1	NM_006614.4(CHL1):c.2278G>C:p.Gly760Arg	coding	Benign
3	389377	T	C	T389377C	CHL1	NM_006614.4(CHL1):c.2373T>C:p.Pro791=	coding	Benign
3	401704	C	T	C401704T	CHL1	NM_006614.4(CHL1):c.3458+6C>T	noncoding	Benign
3	405606	C	T	C405606T	CHL1	NM_006614.4(CHL1):c.3570C>T:p.Leu1190=	coding	Benign
3	1227923	C	T	C1227923T	CNTN6	NM_001289080.2(CNTN6):c.288C>T:p.Gly96=	coding	Benign
3	1227974	G	A	G1227974A	CNTN6	NM_001289080.2(CNTN6):c.339G>A:p.Lys113=	coding	Benign
3	1278457	C	T	C1278457T	CNTN6	NM_001289080.2(CNTN6):c.403C>T:p.Arg135Ter	coding	Benign
3	1278503	T	C	T1278503C	CNTN6	NM_001289080.2(CNTN6):c.449T>C:p.Phe150Ser	coding	Benign
3	1295687	T	C	T1295687C	CNTN6	NM_001289080.2(CNTN6):c.541T>C:p.Leu181=	coding	Benign
3	1329889	G	T	G1329889T	CNTN6	NM_001289080.2(CNTN6):c.1318G>T:p.Ala440Ser	coding	Benign
3	1352351	C	G	C1352351G	CNTN6	NM_001289080.2(CNTN6):c.1392C>G:p.Leu464=	coding	Benign
3	1372443	A	G	A1372443G	CNTN6	NM_001289080.2(CNTN6):c.1637A>G:p.Lys546Arg	coding	Benign
3	1372482	A	T	A1372482T	CNTN6	NM_001289080.2(CNTN6):c.1668+8A>T	noncoding	Benign
3	1383034	G	A	G1383034A	CNTN6	NM_001289080.2(CNTN6):c.2259G>A:p.Val753=	coding	Benign
3	1403334	A	G	A1403334G	CNTN6	NM_001289080.2(CNTN6):c.3003A>G:p.Gly1001=	coding	Benign
3	1403401	A	C	A1403401C	CNTN6	NM_001289080.2(CNTN6):c.3070A>C:p.Ile1024Leu	coding	Benign
3	2571548	G	C	G2571548C	CNTN4	NM_175607.3(CNTN4):c.45G>C:p.Leu15Phe	coding	Benign
3	2745549	C	T	C2745549T	CNTN4	NM_175607.3(CNTN4):c.210C>T:p.Asp70=	coding	Benign
3	2745654	G	A	G2745654A	CNTN4	NM_175607.3(CNTN4):c.315G>A:p.Ser105=	coding	Benign
3	2866762	T	C	T2866762C	CNTN4	NM_175607.3(CNTN4):c.465T>C:p.Tyr155=	coding	Benign
3	2866828	G	A	G2866828A	CNTN4	NM_175607.3(CNTN4):c.531G>A:p.Gly177=	coding	Benign
3	2883154	G	A	G2883154A	CNTN4	NM_175607.3(CNTN4):c.662G>A:p.Gly221Asp	coding	Benign
3	2900804	G	A	G2900804A	CNTN4	NM_175607.3(CNTN4):c.1060G>A:p.Glu354Lys	coding	Benign
3	2988444	T	C	T2988444C	CNTN4	NM_175607.3(CNTN4):c.1458T>C:p.Ala486=	coding	Benign
3	3030893	A	C	A3030893C	CNTN4	NM_175607.3(CNTN4):c.1701A>C:p.Gln567His	coding	Benign
3	3030951	G	T	G3030951T	CNTN4	NM_175607.3(CNTN4):c.1759G>T:p.Ala587Ser	coding	Benign
3	3040078	T	C	T3040078C	CNTN4	NM_175607.3(CNTN4):c.2205T>C:p.Tyr735=	coding	Benign
3	3053863	A	G	A3053863G	CNTN4	NM_175607.3(CNTN4):c.2868A>G:p.Thr956=	coding	Benign
3	3097862	G	A	G3097862A	IL5RA	NM_000564.4(IL5RA):c.709+8C>T	noncoding	Benign
3	3098226	T	C	T3098226C	IL5RA	NM_000564.4(IL5RA):c.432A>G:p.Ser144=	coding	Benign
3	3129107	C	G	C3129107G	TRNT1	NM_182916.3(TRNT1):c.67C>G:p.Pro23Ala	coding	Benign
3	3129108	C	T	C3129108T	TRNT1	NM_182916.3(TRNT1):c.68C>T:p.Pro23Leu	coding	Benign
3	3129173	C	T	C3129173T	TRNT1	NM_182916.3(TRNT1):c.133C>T:p.Leu45=	coding	Benign
3	3129282	T	C	T3129282C	TRNT1	NM_182916.3(TRNT1):c.148+94T>C	noncoding	Benign
3	3137342	T	C	T3137342C	TRNT1	NM_182916.3(TRNT1):c.231T>C:p.Asp77=	coding	Benign/Likely_benign
3	3137442	A	G	A3137442G	TRNT1	NM_182916.3(TRNT1):c.331A>G:p.Ile111Val	coding	Benign
3	3137716	A	G	A3137716G	TRNT1	NM_182916.3(TRNT1):c.342+263A>G	noncoding	Benign
3	3140303	A	T	A3140303T	TRNT1	NM_182916.3(TRNT1):c.343-207A>T	noncoding	Benign
3	3140610	C	T	C3140610T	TRNT1	NM_182916.3(TRNT1):c.443C>T:p.Ala148Val	coding	Pathogenic
3	3140611	G	T	G3140611T	TRNT1	NM_182916.3(TRNT1):c.444G>T:p.Ala148=	coding	Benign
3	3140628	C	T	C3140628T	TRNT1	NM_182916.3(TRNT1):c.461C>T:p.Thr154Ile	coding	Pathogenic
3	3140801	A	G	A3140801G	TRNT1	NM_182916.3(TRNT1):c.481+153A>G	noncoding	Benign
3	3144599	T	C	T3144599C	TRNT1	NM_182916.3(TRNT1):c.497T>C:p.Leu166Ser	coding	Pathogenic
3	3144640	A	T	A3144640T	TRNT1	NM_182916.3(TRNT1):c.538A>T:p.Lys180Ter	coding	Pathogenic
3	3144671	G	T	G3144671T	TRNT1	NM_182916.3(TRNT1):c.569G>T:p.Arg190Ile	coding	Pathogenic
3	3144711	G	T	G3144711T	TRNT1	NM_182916.3(TRNT1):c.608+1G>T	coding	Pathogenic
3	3145035	T	G	T3145035G	TRNT1	NM_182916.3(TRNT1):c.608+325T>G	noncoding	Benign
3	3146404	T	C	T3146404C	TRNT1	NM_182916.3(TRNT1):c.609-26T>C	noncoding	Pathogenic
3	3146489	T	C	T3146489C	TRNT1	NM_182916.3(TRNT1):c.668T>C:p.Ile223Thr	coding	Pathogenic
3	3147217	A	C	A3147217C	TRNT1	NM_182916.3(TRNT1):c.803-233A>C	noncoding	Benign
3	3147230	C	G	C3147230G	TRNT1	NM_182916.3(TRNT1):c.803-220C>G	noncoding	Benign
3	3147376	G	A	G3147376A	TRNT1	NM_182916.3(TRNT1):c.803-74G>A	noncoding	Benign
3	3147592	C	T	C3147592T	TRNT1	NM_182916.3(TRNT1):c.945C>T:p.Ile315=	coding	Benign/Likely_benign
3	3147595	A	G	A3147595G	TRNT1	NM_182916.3(TRNT1):c.948A>G:p.Ala316=	coding	Benign
3	3147704	G	A	G3147704A	TRNT1	NM_182916.3(TRNT1):c.1056+1G>A	coding	Pathogenic
3	3147714	A	G	A3147714G	TRNT1	NM_182916.3(TRNT1):c.1056+11A>G	noncoding	Benign
3	3150939	G	A	G3150939A	CRBN	NM_016302.3(CRBN):c.1255C>T:p.Arg419Ter	coding	Pathogenic
3	3150952	A	G	A3150952G	CRBN	NM_016302.3(CRBN):c.1242T>C:p.Phe414=	coding	Benign
3	3150985	C	T	C3150985T	CRBN	NM_016302.3(CRBN):c.1209G>A:p.Thr403=	coding	Benign
3	3154746	C	T	C3154746T	CRBN	NM_016302.4(CRBN):c.835+1G>A	noncoding	Pathogenic
3	3172865	T	C	T3172865C	CRBN	NM_016302.3(CRBN):c.438A>G:p.Glu146=	coding	Benign
3	3174217	G	A	G3174217A	CRBN	NM_016302.3(CRBN):c.219C>T:p.His73=	coding	Benign
3	3174270	A	G	A3174270G	CRBN	NM_016302.3(CRBN):c.175-9T>C	noncoding	Benign
3	3845037	C	T	C3845037T	LRRN1	NM_020873.7(LRRN1):c.396C>T:p.Thr132=	coding	Benign
3	3845100	C	T	C3845100T	LRRN1	NM_020873.7(LRRN1):c.459C>T:p.Asn153=	coding	Benign
3	3845949	C	T	C3845949T	LRRN1	NM_020873.7(LRRN1):c.1308C>T:p.Asn436=	coding	Benign
3	3846288	C	T	C3846288T	LRRN1	NM_020873.7(LRRN1):c.1647C>T:p.Val549=	coding	Benign
3	3846468	C	T	C3846468T	LRRN1	NM_020873.7(LRRN1):c.1827C>T:p.Cys609=	coding	Benign
3	3846745	A	C	A3846745C	LRRN1	NM_020873.7(LRRN1):c.2104A>C:p.Thr702Pro	coding	Benign
3	4361227	C	A	C4361227A	SUMF1	NM_182760.4(SUMF1):c.*917G>T	noncoding	Benign
3	4361339	G	A	G4361339A	SUMF1	NM_182760.4(SUMF1):c.*805C>T	noncoding	Benign
3	4361469	T	G	T4361469G	SUMF1	NM_182760.4(SUMF1):c.*675A>C	noncoding	Benign
3	4361576	C	T	C4361576T	SUMF1	NM_182760.4(SUMF1):c.*568G>A	noncoding	Benign
3	4361592	A	C	A4361592C	SUMF1	NM_182760.4(SUMF1):c.*552T>G	noncoding	Benign
3	4361626	A	G	A4361626G	SUMF1	NM_182760.4(SUMF1):c.*518T>C	noncoding	Benign
3	4361673	A	C	A4361673C	SUMF1	NM_182760.4(SUMF1):c.*471T>G	noncoding	Benign
3	4361746	G	A	G4361746A	SUMF1	NM_182760.4(SUMF1):c.*398C>T	noncoding	Benign
3	4361852	A	T	A4361852T	SUMF1	NM_182760.4(SUMF1):c.*292T>A	noncoding	Benign
3	4361853	C	T	C4361853T	SUMF1	NM_182760.4(SUMF1):c.*291G>A	noncoding	Benign
3	4361930	T	C	T4361930C	SUMF1	NM_182760.4(SUMF1):c.*214A>G	noncoding	Benign
3	4361934	G	A	G4361934A	SUMF1	NM_182760.4(SUMF1):c.*210C>T	noncoding	Benign
3	4361955	C	T	C4361955T	SUMF1	NM_182760.4(SUMF1):c.*189G>A	noncoding	Benign
3	4362052	T	C	T4362052C	SUMF1	NM_182760.4(SUMF1):c.*92A>G	noncoding	Benign
3	4362083	A	G	A4362083G	SUMF1	NM_182760.4(SUMF1):c.*61T>C	noncoding	Benign
3	4362133	T	A	T4362133A	SUMF1	NM_182760.4(SUMF1):c.*11A>T	noncoding	Benign
3	4362134	T	C	T4362134C	SUMF1	NM_182760.4(SUMF1):c.*10A>G	noncoding	Benign
3	4362153	A	G	A4362153G	SUMF1	NM_182760.4(SUMF1):c.1116T>C:p.Thr372=	coding	Benign
3	4362192	C	T	C4362192T	SUMF1	NM_182760.4(SUMF1):c.1077G>A:p.Ser359=	coding	Benign/Likely_benign
3	4362193	G	T	G4362193T	SUMF1	NM_182760.4(SUMF1):c.1076C>A:p.Ser359Ter	coding	Pathogenic
3	4362223	C	T	C4362223T	SUMF1	NM_182760.4(SUMF1):c.1046G>A:p.Arg349Gln	coding	Pathogenic
3	4362224	G	A	G4362224A	SUMF1	NM_182760.4(SUMF1):c.1045C>T:p.Arg349Trp	coding	Pathogenic/Likely_pathogenic
3	4362227	C	G	C4362227G	SUMF1	NM_182760.4(SUMF1):c.1042G>C:p.Ala348Pro	coding	Pathogenic
3	4362236	G	A	G4362236A	SUMF1	NM_182760.4(SUMF1):c.1033C>T:p.Arg345Cys	coding	Pathogenic
3	4362403	A	G	A4362403G	SUMF1	NM_182760.4(SUMF1):c.1015-149T>C	noncoding	Benign
3	4376338	A	G	A4376338G	SUMF1	NM_182760.4(SUMF1):c.1006T>C:p.Cys336Arg	coding	Pathogenic
3	4376365	G	A	G4376365A	SUMF1	NM_182760.4(SUMF1):c.979C>T:p.Arg327Ter	coding	Pathogenic
3	4410858	T	C	T4410858C	SUMF1	NM_182760.4(SUMF1):c.954+7A>G	noncoding	Benign
3	4410992	C	T	C4410992T	SUMF1	NM_182760.4(SUMF1):c.841-14G>A	noncoding	Benign
3	4411053	G	A	G4411053A	SUMF1	NM_182760.4(SUMF1):c.841-75C>T	noncoding	Benign
3	4417180	C	A	C4417180A	SUMF1	NM_182760.4(SUMF1):c.788G>T:p.Gly263Val	coding	Pathogenic
3	4418076	C	T	C4418076T	SUMF1	NM_182760.4(SUMF1):c.659G>A:p.Trp220Ter	coding	Pathogenic
3	4418082	C	T	C4418082T	SUMF1	NM_182760.4(SUMF1):c.653G>A:p.Cys218Tyr	coding	Pathogenic
3	4418093	C	T	C4418093T	SUMF1	NM_182760.4(SUMF1):c.642G>A:p.Ala214=	coding	Benign/Likely_benign
3	4418288	A	G	A4418288G	SUMF1	NM_182760.4(SUMF1):c.603-156T>C	noncoding	Benign
3	4419885	G	A	G4419885A	SUMF1	NM_182760.4(SUMF1):c.602+179C>T	noncoding	Benign
3	4420014	C	T	C4420014T	SUMF1	NM_182760.4(SUMF1):c.602+50G>A	noncoding	Benign
3	4420051	G	A	G4420051A	SUMF1	NM_182760.4(SUMF1):c.602+13C>T	noncoding	Benign
3	4420124	A	C	A4420124C	SUMF1	NM_182760.4(SUMF1):c.542T>G:p.Leu181Ter	coding	Pathogenic
3	4420137	C	G	C4420137G	SUMF1	NM_182760.4(SUMF1):c.529G>C:p.Ala177Pro	coding	Pathogenic
3	4449322	A	G	A4449322G	SUMF1	NM_182760.4(SUMF1):c.463T>C:p.Ser155Pro	coding	Pathogenic/Likely_pathogenic
3	4449577	T	G	T4449577G	SUMF1	NM_182760.4(SUMF1):c.445-237A>C	noncoding	Benign
3	4452849	T	C	T4452849C	SUMF1	NM_182760.4(SUMF1):c.444+27A>G	noncoding	Benign
3	4452983	C	T	C4452983T	SUMF1	NM_182760.4(SUMF1):c.337G>A:p.Glu113Lys	coding	Pathogenic
3	4466980	G	C	G4466980C	SUMF1	NM_182760.4(SUMF1):c.266C>G:p.Ser89Ter	coding	Pathogenic
3	4467058	C	T	C4467058T	SUMF1	NM_182760.4(SUMF1):c.188G>A:p.Ser63Asn	coding	Benign
3	4467118	G	A	G4467118A	SUMF1	NM_182760.4(SUMF1):c.128C>T:p.Ala43Val	coding	Benign/Likely_benign
3	4467151	G	A	G4467151A	SUMF1	NM_182760.4(SUMF1):c.95C>T:p.Ala32Val	coding	Benign
3	4467187	A	C	A4467187C	SUMF1	NM_182760.4(SUMF1):c.59T>G:p.Leu20Arg	coding	Benign
3	4467245	T	C	T4467245C	SUMF1	NM_182760.4(SUMF1):c.1A>G:p.Met1Val	coding	Pathogenic
3	4467254	G	A	G4467254A	SUMF1	NM_182760.4(SUMF1):c.-9C>T	noncoding	Benign
3	4493357	A	T	A4493357T	ITPR1	NM_001168272.2(ITPR1):c.-341A>T	noncoding	Benign
3	4493383	C	T	C4493383T	ITPR1	NM_001168272.2(ITPR1):c.-315C>T	noncoding	Benign
3	4493454	G	A	G4493454A	ITPR1	NM_002222.6(ITPR1):c.-244G>A	noncoding	Benign
3	4494442	A	G	A4494442G	ITPR1	NM_002222.6(ITPR1):c.-81A>G	noncoding	Benign
3	4516548	G	A	G4516548A	ITPR1	NM_002222.6(ITPR1):c.57G>A:p.Ala19=	coding	Benign
3	4516557	G	A	G4516557A	ITPR1	NM_002222.6(ITPR1):c.66G>A:p.Ser22=	coding	Benign/Likely_benign
3	4521072	C	T	C4521072T	ITPR1	NM_002222.6(ITPR1):c.141C>T:p.Asn47=	coding	Benign/Likely_benign
3	4627794	C	G	C4627794G	ITPR1	NM_002222.6(ITPR1):c.195C>G:p.Arg65=	coding	Benign
3	4642164	C	T	C4642164T	ITPR1	NM_002222.6(ITPR1):c.438C>T:p.Ala146=	coding	Benign
3	4644128	C	T	C4644128T	ITPR1	NM_001168272.1(ITPR1):c.526-8C>T	noncoding	Benign
3	4645373	A	T	A4645373T	ITPR1	NM_002222.6(ITPR1):c.625-14A>T	noncoding	Benign
3	4645678	C	T	C4645678T	ITPR1	NM_001378452.1(ITPR1):c.805C>T:p.Arg269Trp	coding	Pathogenic/Likely_pathogenic
3	4652149	C	T	C4652149T	ITPR1	NM_002222.6(ITPR1):c.882C>T:p.Gly294=	coding	Benign
3	4652197	G	A	G4652197A	ITPR1	NM_002222.6(ITPR1):c.930G>A:p.Thr310=	coding	Benign
3	4658118	C	T	C4658118T	ITPR1	NM_002222.6(ITPR1):c.952-6C>T	noncoding	Benign
3	4658160	C	A	C4658160A	ITPR1	NM_002222.6(ITPR1):c.988C>A:p.Arg330=	coding	Benign
3	4658161	G	A	G4658161A	ITPR1	NM_002222.6(ITPR1):c.989G>A:p.Arg330Gln	coding	Benign/Likely_benign
3	4658252	G	A	G4658252A	ITPR1	NM_002222.6(ITPR1):c.1080G>A:p.Leu360=	coding	Benign
3	4658252	G	C	G4658252C	ITPR1	NM_002222.6(ITPR1):c.1080G>C:p.Leu360=	coding	Benign
3	4658283	C	G	C4658283G	ITPR1	NM_002222.6(ITPR1):c.1106+5C>G	noncoding	Benign
3	4661097	G	A	G4661097A	ITPR1	NM_002222.6(ITPR1):c.1206+10G>A	noncoding	Benign
3	4662080	A	T	A4662080T	ITPR1	NM_001099952.3(ITPR1):c.1252-2A>T	noncoding	Pathogenic
3	4662081	G	C	G4662081C	ITPR1	NM_002222.6(ITPR1):c.1207-1G>C	noncoding	Pathogenic
3	4662132	G	A	G4662132A	ITPR1	NM_002222.6(ITPR1):c.1257G>A:p.Pro419=	coding	Benign
3	4662253	C	T	C4662253T	ITPR1	NM_002222.6(ITPR1):c.1367+11C>T	noncoding	Benign
3	4662255	G	A	G4662255A	ITPR1	NM_002222.6(ITPR1):c.1367+13G>A	noncoding	Benign
3	4663101	C	T	C4663101T	ITPR1	NM_002222.6(ITPR1):c.1404C>T:p.Phe468=	coding	Benign/Likely_benign
3	4663149	C	T	C4663149T	ITPR1	NM_002222.6(ITPR1):c.1452C>T:p.Phe484=	coding	Benign/Likely_benign
3	4663188	A	G	A4663188G	ITPR1	NM_002222.6(ITPR1):c.1491A>G:p.Glu497=	coding	Benign
3	4663209	C	T	C4663209T	ITPR1	NM_001168272.1(ITPR1):c.1509+3C>T	noncoding	Benign
3	4665285	A	G	A4665285G	ITPR1	NM_002222.6(ITPR1):c.1657A>G:p.Arg553Gly	coding	Pathogenic
3	4667467	A	G	A4667467G	ITPR1	NM_002222.6(ITPR1):c.1759A>G:p.Asn587Asp	coding	Pathogenic
3	4667556	C	T	C4667556T	ITPR1	NM_002222.6(ITPR1):c.1841+7C>T	noncoding	Benign
3	4669693	C	T	C4669693T	ITPR1	NM_002222.6(ITPR1):c.1881C>T:p.Asn627=	coding	Benign
3	4670722	T	G	T4670722G	ITPR1	NM_002222.6(ITPR1):c.1962-7T>G	noncoding	Benign
3	4670729	G	A	G4670729A	ITPR1	NM_002222.6(ITPR1):c.1962G>A:p.Lys654=	coding	Benign
3	4670904	C	T	C4670904T	ITPR1	NM_002222.6(ITPR1):c.2137C>T:p.Arg713Ter	coding	Pathogenic
3	4670939	C	T	C4670939T	ITPR1	NM_001168272.2(ITPR1):c.2159+13C>T	noncoding	Benign
3	4673157	G	A	G4673157A	ITPR1	NM_002222.6(ITPR1):c.2181G>A:p.Ala727=	coding	Benign/Likely_benign
3	4673211	G	T	G4673211T	ITPR1	NM_002222.6(ITPR1):c.2235G>T:p.Leu745=	coding	Benign
3	4673236	A	G	A4673236G	ITPR1	NM_002222.6(ITPR1):c.2260A>G:p.Met754Val	coding	Benign
3	4673265	C	T	C4673265T	ITPR1	NM_002222.6(ITPR1):c.2289C>T:p.Leu763=	coding	Benign
3	4673364	T	A	T4673364A	ITPR1	NM_002222.6(ITPR1):c.2388T>A:p.Ile796=	coding	Benign
3	4673370	G	A	G4673370A	ITPR1	NM_002222.6(ITPR1):c.2394G>A:p.Ser798=	coding	Benign
3	4675085	G	A	G4675085A	ITPR1	NM_002222.6(ITPR1):c.2571G>A:p.Arg857=	coding	Benign/Likely_benign
3	4675127	A	C	A4675127C	ITPR1	NM_002222.6(ITPR1):c.2613A>C:p.Leu871=	coding	Benign
3	4675196	G	A	G4675196A	ITPR1	NM_002222.6(ITPR1):c.2682G>A:p.Lys894=	coding	Benign/Likely_benign
3	4675202	G	A	G4675202A	ITPR1	NM_001168272.1(ITPR1):c.2688G>A:p.Ala896=	coding	Benign
3	4676696	G	A	G4676696A	ITPR1	NM_002222.6(ITPR1):c.2790G>A:p.Met930Ile	coding	Benign
3	4680642	A	G	A4680642G	ITPR1	NM_002222.6(ITPR1):c.2985A>G:p.Ser995=	coding	Benign/Likely_benign
3	4683431	C	T	C4683431T	ITPR1	NM_002222.6(ITPR1):c.3135C>T:p.Thr1045=	coding	Benign/Likely_benign
3	4683472	C	T	C4683472T	ITPR1	NM_002222.6(ITPR1):c.3176C>T:p.Pro1059Leu	coding	Pathogenic
3	4683555	G	A	G4683555A	ITPR1	NM_002222.6(ITPR1):c.3255+4G>A	noncoding	Benign
3	4683563	C	T	C4683563T	ITPR1	NM_002222.6(ITPR1):c.3255+12C>T	noncoding	Benign
3	4683761	A	G	A4683761G	ITPR1	NM_001378452.1(ITPR1):c.3461A>G:p.Asp1154Gly	coding	Benign/Likely_benign
3	4685161	C	T	C4685161T	ITPR1	NM_002222.6(ITPR1):c.3585C>T:p.Gly1195=	coding	Benign/Likely_benign
3	4685164	G	A	G4685164A	ITPR1	NM_002222.6(ITPR1):c.3588G>A:p.Ala1196=	coding	Benign/Likely_benign
3	4685173	G	A	G4685173A	ITPR1	NM_002222.6(ITPR1):c.3597G>A:p.Val1199=	coding	Benign/Likely_benign
3	4688497	C	T	C4688497T	ITPR1	NM_002222.6(ITPR1):c.3633C>T:p.Ala1211=	coding	Benign
3	4688557	C	T	C4688557T	ITPR1	NM_002222.6(ITPR1):c.3693C>T:p.Cys1231=	coding	Benign/Likely_benign
3	4691260	T	C	T4691260C	ITPR1	NM_002222.6(ITPR1):c.3873T>C:p.Asn1291=	coding	Benign
3	4693687	G	C	G4693687C	ITPR1	NM_002222.6(ITPR1):c.4155G>C:p.Leu1385=	coding	Benign
3	4693711	C	T	C4693711T	ITPR1	NM_001168272.1(ITPR1):c.4206C>T:p.Arg1402=	coding	Benign
3	4693714	G	T	G4693714T	ITPR1	NM_002222.6(ITPR1):c.4182G>T:p.Val1394=	coding	Benign
3	4693723	C	G	C4693723G	ITPR1	NM_002222.6(ITPR1):c.4191C>G:p.His1397Gln	coding	Benign/Likely_benign
3	4697153	A	G	A4697153G	ITPR1	NM_002222.6(ITPR1):c.4216A>G:p.Ile1406Val	coding	Benign
3	4699842	T	C	T4699842C	ITPR1	NM_001168272.1(ITPR1):c.4392T>C:p.His1464=	coding	Benign
3	4699878	C	T	C4699878T	ITPR1	NM_002222.6(ITPR1):c.4401C>T:p.Ile1467=	coding	Benign/Likely_benign
3	4702916	C	T	C4702916T	ITPR1	NM_002222.6(ITPR1):c.4551C>T:p.Ser1517=	coding	Benign
3	4706193	G	A	G4706193A	ITPR1	NM_002222.6(ITPR1):c.4612G>A:p.Val1538Met	coding	Pathogenic
3	4706208	C	T	C4706208T	ITPR1	NM_002222.6(ITPR1):c.4627C>T:p.Gln1543Ter	coding	Pathogenic
3	4706346	T	C	T4706346C	ITPR1	NM_002222.6(ITPR1):c.4765T>C:p.Leu1589=	coding	Benign/Likely_benign
3	4710336	C	T	C4710336T	ITPR1	NM_002222.6(ITPR1):c.4782C>T:p.Ser1594=	coding	Benign/Likely_benign
3	4725578	T	C	T4725578C	ITPR1	NM_001168272.1(ITPR1):c.5124T>C:p.Thr1708=	coding	Benign
3	4733224	C	T	C4733224T	ITPR1	NM_002222.6(ITPR1):c.5164+4C>T	noncoding	Benign
3	4735276	C	T	C4735276T	ITPR1	NM_002222.6(ITPR1):c.5277C>T:p.Asn1759=	coding	Benign/Likely_benign
3	4735314	T	C	T4735314C	ITPR1	NM_001099952.3(ITPR1):c.5360T>C:p.Leu1787Pro	coding	Pathogenic
3	4766606	T	G	T4766606G	ITPR1	NM_002222.6(ITPR1):c.5432T>G:p.Val1811Gly	coding	Benign/Likely_benign
3	4768674	C	T	C4768674T	ITPR1	NM_002222.6(ITPR1):c.5700C>T:p.Asp1900=	coding	Benign
3	4775379	G	A	G4775379A	ITPR1	NM_002222.6(ITPR1):c.5928G>A:p.Ala1976=	coding	Benign
3	4775409	C	T	C4775409T	ITPR1	NM_002222.6(ITPR1):c.5958C>T:p.Thr1986=	coding	Benign/Likely_benign
3	4779584	A	G	A4779584G	ITPR1	NM_002222.6(ITPR1):c.6137A>G:p.Glu2046Gly	coding	Pathogenic
3	4779606	C	T	C4779606T	ITPR1	NM_002222.6(ITPR1):c.6159C>T:p.Asn2053=	coding	Benign/Likely_benign
3	4782678	C	T	C4782678T	ITPR1	NM_002222.6(ITPR1):c.6258C>T:p.Asn2086=	coding	Benign/Likely_benign
3	4782744	A	T	A4782744T	ITPR1	NM_002222.6(ITPR1):c.6321+3A>T	noncoding	Pathogenic
3	4782748	T	C	T4782748C	ITPR1	NM_002222.6(ITPR1):c.6321+7T>C	noncoding	Benign
3	4788027	A	G	A4788027G	ITPR1	NM_002222.6(ITPR1):c.6507A>G:p.Lys2169=	coding	Benign
3	4788048	A	G	A4788048G	ITPR1	NM_002222.6(ITPR1):c.6528A>G:p.Thr2176=	coding	Benign
3	4788144	G	T	G4788144T	ITPR1	NM_002222.6(ITPR1):c.6619+5G>T	noncoding	Pathogenic
3	4788147	C	G	C4788147G	ITPR1	NM_002222.6(ITPR1):c.6619+8C>G	noncoding	Benign/Likely_benign
3	4795168	G	A	G4795168A	ITPR1	NM_002222.6(ITPR1):c.6723G>A:p.Pro2241=	coding	Benign/Likely_benign
3	4800486	C	T	C4800486T	ITPR1	NM_001168272.1(ITPR1):c.6948C>T:p.Ile2316=	coding	Benign
3	4800547	C	T	C4800547T	ITPR1	NM_002222.6(ITPR1):c.6865C>T:p.Leu2289=	coding	Benign
3	4800561	C	T	C4800561T	ITPR1	NM_001168272.1(ITPR1):c.7023C>T:p.Val2341=	coding	Benign
3	4800591	C	T	C4800591T	ITPR1	NM_002222.6(ITPR1):c.6909C>T:p.Gly2303=	coding	Benign/Likely_benign
3	4811344	T	C	T4811344C	ITPR1	NM_002222.6(ITPR1):c.7163T>C:p.Leu2388Pro	coding	Pathogenic
3	4811381	C	T	C4811381T	ITPR1	NM_002222.6(ITPR1):c.7200C>T:p.Phe2400=	coding	Benign/Likely_benign
3	4813164	C	T	C4813164T	ITPR1	NM_001168272.2(ITPR1):c.7446C>T:p.Ser2482=	coding	Benign
3	4813179	C	T	C4813179T	ITPR1	NM_002222.6(ITPR1):c.7317C>T:p.Ser2439=	coding	Benign/Likely_benign
3	4813182	T	C	T4813182C	ITPR1	NM_002222.6(ITPR1):c.7320T>C:p.Asp2440=	coding	Benign
3	4814496	T	C	T4814496C	ITPR1	NM_002222.6(ITPR1):c.7446T>C:p.Thr2482=	coding	Benign
3	4814520	C	T	C4814520T	ITPR1	NM_001168272.1(ITPR1):c.7614C>T:p.Ser2538=	coding	Benign
3	4814521	G	A	G4814521A	ITPR1	NM_002222.6(ITPR1):c.7471G>A:p.Gly2491Arg	coding	Pathogenic/Likely_pathogenic
3	4814521	G	C	G4814521C	ITPR1	NM_002222.6(ITPR1):c.7471G>C:p.Gly2491Arg	coding	Pathogenic
3	4814550	G	A	G4814550A	ITPR1	NM_002222.6(ITPR1):c.7500G>A:p.Lys2500=	coding	Benign
3	4814565	A	G	A4814565G	ITPR1	NM_002222.6(ITPR1):c.7512+3A>G	noncoding	Benign
3	4815088	C	T	C4815088T	ITPR1	NM_002222.6(ITPR1):c.7548C>T:p.Leu2516=	coding	Benign
3	4815135	G	A	G4815135A	ITPR1	NM_002222.6(ITPR1):c.7595G>A:p.Gly2532Glu	coding	Pathogenic
3	4815144	T	A	T4815144A	ITPR1	NM_002222.6(ITPR1):c.7604T>A:p.Ile2535Asn	coding	Pathogenic
3	4815144	T	C	T4815144C	ITPR1	NM_002222.6(ITPR1):c.7604T>C:p.Ile2535Thr	coding	Pathogenic
3	4815154	T	G	T4815154G	ITPR1	NM_002222.6(ITPR1):c.7614T>G:p.Phe2538Leu	coding	Pathogenic
3	4815205	G	A	G4815205A	ITPR1	NM_001168272.1(ITPR1):c.7809G>A:p.Thr2603=	coding	Benign
3	4818200	C	T	C4818200T	ITPR1	NM_002222.6(ITPR1):c.7797C>T:p.Thr2599=	coding	Benign/Likely_benign
3	4818224	C	T	C4818224T	ITPR1	NM_001168272.1(ITPR1):c.7965C>T:p.Tyr2655=	coding	Benign
3	4836911	C	A	C4836911A	ITPR1	NM_002222.6(ITPR1):c.7977C>A:p.Gly2659=	coding	Benign
3	4846272	G	C	G4846272C	ITPR1	NM_002222.6(ITPR1):c.*47G>C	noncoding	Benign
3	4846273	T	G	T4846273G	ITPR1	NM_002222.6(ITPR1):c.*48T>G	noncoding	Benign
3	4846346	G	C	G4846346C	ITPR1	NM_002222.6(ITPR1):c.*121G>C	noncoding	Benign
3	4846868	A	T	A4846868T	ITPR1	NM_002222.6(ITPR1):c.*643A>T	noncoding	Benign
3	4847002	C	T	C4847002T	ITPR1	NM_002222.6(ITPR1):c.*777C>T	noncoding	Benign
3	4847072	G	A	G4847072A	ITPR1	NM_002222.6(ITPR1):c.*847G>A	noncoding	Benign
3	4847204	A	T	A4847204T	ITPR1	NM_001168272.2(ITPR1):c.*979A>T	noncoding	Benign
3	4847233	A	G	A4847233G	ITPR1	NM_002222.6(ITPR1):c.*1008A>G	noncoding	Benign
3	4847381	A	C	A4847381C	ITPR1	NM_002222.6(ITPR1):c.*1156A>C	noncoding	Benign
3	4847421	T	C	T4847421C	ITPR1	NM_002222.6(ITPR1):c.*1196T>C	noncoding	Benign
3	4847610	A	G	A4847610G	ITPR1	NM_002222.6(ITPR1):c.*1385A>G	noncoding	Benign
3	4847756	G	T	G4847756T	ITPR1	NM_002222.6(ITPR1):c.*1531G>T	noncoding	Benign
3	4847758	G	A	G4847758A	ITPR1	NM_002222.6(ITPR1):c.*1533G>A	noncoding	Benign
3	6861469	G	C	G6861469C	GRM7	NM_000844.4(GRM7):c.81G>C:p.Ala27=	coding	Benign
3	6861487	C	A	C6861487A	GRM7	NM_000844.4(GRM7):c.99C>A:p.Arg33=	coding	Benign
3	6861502	C	T	C6861502T	GRM7	NM_000844.4(GRM7):c.114C>T:p.Tyr38=	coding	Benign
3	6861532	C	T	C6861532T	GRM7	NM_000844.4(GRM7):c.144C>T:p.Asp48=	coding	Benign
3	6861849	T	C	T6861849C	GRM7	NM_000844.4(GRM7):c.461T>C:p.Ile154Thr	coding	Pathogenic/Likely_pathogenic
3	7146484	C	A	C7146484A	GRM7	NM_000844.4(GRM7):c.552C>A:p.Pro184=	coding	Benign
3	7146493	T	C	T7146493C	GRM7	NM_000844.4(GRM7):c.561T>C:p.Ser187=	coding	Benign
3	7298706	C	T	C7298706T	GRM7	NM_000844.4(GRM7):c.759C>T:p.Ser253=	coding	Benign
3	7306645	G	A	G7306645A	GRM7	NM_000844.4(GRM7):c.1026G>A:p.Thr342=	coding	Benign
3	7452611	G	A	G7452611A	GRM7	NM_000844.4(GRM7):c.1179G>A:p.Gln393=	coding	Benign
3	7452612	G	A	G7452612A	GRM7	NM_000844.4(GRM7):c.1180G>A:p.Glu394Lys	coding	Pathogenic
3	7578656	C	T	C7578656T	GRM7	NM_000844.4(GRM7):c.1750C>T:p.Leu584=	coding	Benign
3	7578663	G	A	G7578663A	GRM7	NM_000844.4(GRM7):c.1757G>A:p.Trp586Ter	coding	Pathogenic
3	7578878	C	T	C7578878T	GRM7	NM_000844.4(GRM7):c.1972C>T:p.Arg658Trp	coding	Pathogenic/Likely_pathogenic
3	7578879	G	A	G7578879A	GRM7	NM_000844.4(GRM7):c.1973G>A:p.Arg658Gln	coding	Pathogenic
3	7578881	C	T	C7578881T	GRM7	NM_000844.4(GRM7):c.1975C>T:p.Arg659Ter	coding	Pathogenic
3	7578930	C	A	C7578930A	GRM7	NM_000844.4(GRM7):c.2024C>A:p.Thr675Lys	coding	Pathogenic/Likely_pathogenic
3	7579294	G	A	G7579294A	GRM7	NM_000844.4(GRM7):c.2388G>A:p.Thr796=	coding	Benign
3	7579345	A	G	A7579345G	GRM7	NM_000844.4(GRM7):c.2439A>G:p.Gln813=	coding	Benign
3	7680174	G	C	G7680174C	GRM7	NM_000844.4(GRM7):c.2577G>C:p.Arg859=	coding	Benign
3	7680268	G	A	G7680268A	GRM7	NM_000844.4(GRM7):c.2671G>A:p.Glu891Lys	coding	Pathogenic
3	8627716	G	A	G8627716A	SSUH2	NM_001256748.2(SSUH2):c.656C>T:p.Ala219Val	coding	Benign
3	8633761	C	T	C8633761T	SSUH2	NM_001256748.2(SSUH2):c.244G>A:p.Ala82Thr	coding	Benign
3	8635815	G	A	G8635815A	SSUH2	NM_001256748.2(SSUH2):c.71C>T:p.Pro24Leu	coding	Benign
3	8733467	C	T	C8733467T	CAV3	NM_033337.2(CAV3):c.-410C>T	noncoding	Benign
3	8733537	C	A	C8733537A	CAV3	NM_033337.2(CAV3):c.-340C>A	noncoding	Benign
3	8733693	G	T	G8733693T	CAV3	NM_033337.2(CAV3):c.-184G>T	noncoding	Benign
3	8733830	C	T	C8733830T	CAV3	NM_033337.2(CAV3):c.-47C>T	noncoding	Benign
3	8733862	C	A	C8733862A	CAV3	NM_033337.3(CAV3):c.-15C>A	noncoding	Benign
3	8733876	G	A	G8733876A	CAV3	NM_033337.3(CAV3):c.-1G>A	noncoding	Benign/Likely_benign
3	8733903	C	T	C8733903T	CAV3	NM_033337.3(CAV3):c.27C>T:p.Leu9=	coding	Benign/Likely_benign
3	8733906	G	A	G8733906A	CAV3	NM_033337.2(CAV3):c.30G>A:p.Glu10=	coding	Benign
3	8733916	G	C	G8733916C	CAV3	NM_033337.2(CAV3):c.40G>C:p.Val14Leu	coding	Pathogenic
3	8733933	C	A	C8733933A	CAV3	NM_033337.3(CAV3):c.57C>A:p.Cys19Ter	coding	Pathogenic
3	8733956	G	A	G8733956A	CAV3;SSUH2	NM_033337.2(CAV3):c.80G>A:p.Arg27Gln	coding	Pathogenic
3	8733960	C	A	C8733960A	CAV3	NM_033337.2(CAV3):c.84C>A:p.Asp28Glu	coding	Pathogenic
3	8733962	C	T	C8733962T	CAV3	NM_033337.2(CAV3):c.86C>T:p.Pro29Leu	coding	Pathogenic
3	8733975	C	T	C8733975T	CAV3	NM_033337.3(CAV3):c.99C>T:p.Asn33=	coding	Benign/Likely_benign
3	8733992	T	C	T8733992C	CAV3	NM_033337.2(CAV3):c.114+2T>C	noncoding	Pathogenic
3	8734161	C	G	C8734161G	CAV3	NM_033337.2(CAV3):c.114+171C>G	noncoding	Benign
3	8745437	G	T	G8745437T	CAV3	NM_033337.2(CAV3):c.115-89G>T	noncoding	Benign
3	8745503	G	C	G8745503C	CAV3	NM_033337.2(CAV3):c.115-23G>C	noncoding	Benign
3	8745534	T	C	T8745534C	CAV3	NM_033337.3(CAV3):c.123T>C:p.Phe41=	coding	Benign/Likely_benign
3	8745547	G	A	G8745547A	CAV3	NM_033337.2(CAV3):c.136G>A:p.Ala46Thr	coding	Pathogenic
3	8745577	G	A	G8745577A	CAV3	NM_033337.3(CAV3):c.166G>A:p.Gly56Ser	coding	Benign/Likely_benign
3	8745579	C	T	C8745579T	CAV3	NM_033337.3(CAV3):c.168C>T:p.Gly56=	coding	Benign/Likely_benign
3	8745582	G	A	G8745582A	CAV3	NM_033337.3(CAV3):c.171G>A:p.Val57=	coding	Benign/Likely_benign
3	8745615	C	A	C8745615A	CAV3	NM_033337.3(CAV3):c.204C>A:p.Ser68=	coding	Benign/Likely_benign
3	8745664	G	A	G8745664A	CAV3	NM_033337.2(CAV3):c.253G>A:p.Ala85Thr	coding	Pathogenic
3	8745712	T	C	T8745712C	CAV3	NM_033337.2(CAV3):c.301T>C:p.Trp101Arg	coding	Pathogenic
3	8745725	C	T	C8745725T	CAV3	NM_033337.2(CAV3):c.314C>T:p.Pro105Leu	coding	Pathogenic
3	8745834	C	G	C8745834G	CAV3	NM_033337.2(CAV3):c.423C>G:p.Ser141Arg	coding	Pathogenic
3	8745887	G	A	G8745887A	CAV3	NM_033337.3(CAV3):c.*20G>A	noncoding	Benign
3	8745905	G	C	G8745905C	CAV3	NM_033337.3(CAV3):c.*38G>C	noncoding	Benign
3	8746143	C	T	C8746143T	CAV3	NM_033337.2(CAV3):c.*276C>T	noncoding	Benign/Likely_benign
3	8746207	G	A	G8746207A	CAV3	NM_033337.3(CAV3):c.*340G>A	noncoding	Benign
3	8746410	T	C	T8746410C	CAV3	NM_033337.2(CAV3):c.*543T>C	noncoding	Benign/Likely_benign
3	8746436	G	A	G8746436A	CAV3	NM_033337.3(CAV3):c.*569G>A	noncoding	Benign
3	8746465	G	C	G8746465C	CAV3	NM_033337.3(CAV3):c.*598G>C	noncoding	Benign
3	8746512	A	T	A8746512T	CAV3	NM_033337.2(CAV3):c.*645A>T	noncoding	Benign/Likely_benign
3	8746650	A	G	A8746650G	CAV3	NM_033337.2(CAV3):c.*783A>G	noncoding	Benign/Likely_benign
3	8746678	C	G	C8746678G	CAV3	NM_033337.2(CAV3):c.*811C>G	noncoding	Benign/Likely_benign
3	8753043	C	T	C8753043T	OXTR	NM_000916.3(OXTR):c.1104G>A:p.Ser368=	coding	Benign
3	8753079	G	T	G8753079T	OXTR	NM_000916.3(OXTR):c.1068C>A:p.Arg356=	coding	Benign
3	8753132	C	T	C8753132T	OXTR	NM_000916.3(OXTR):c.1015G>A:p.Glu339Lys	coding	Benign
3	8767572	G	C	G8767572C	OXTR	NM_000916.3(OXTR):c.616C>G:p.Leu206Val	coding	Benign
3	8767673	A	G	A8767673G	OXTR	NM_000916.3(OXTR):c.515T>C:p.Val172Ala	coding	Benign
3	8767837	G	A	G8767837A	OXTR	NM_000916.3(OXTR):c.351C>T:p.Tyr117=	coding	Benign
3	8985578	C	T	C8985578T	SRGAP3	NM_014850.4(SRGAP3):c.3241G>A:p.Val1081Met	coding	Benign
3	8985783	G	A	G8985783A	SRGAP3	NM_014850.4(SRGAP3):c.3036C>T:p.Pro1012=	coding	Benign
3	8990581	C	T	C8990581T	SRGAP3	NM_014850.4(SRGAP3):c.2817G>A:p.Ser939=	coding	Benign
3	8990718	T	C	T8990718C	SRGAP3	NM_014850.4(SRGAP3):c.2680A>G:p.Ser894Gly	coding	Benign
3	8992929	G	A	G8992929A	SRGAP3	NM_014850.4(SRGAP3):c.2535C>T:p.Tyr845=	coding	Benign
3	8994375	G	A	G8994375A	SRGAP3	NM_014850.4(SRGAP3):c.2376C>T:p.Leu792=	coding	Benign
3	9010372	G	A	G9010372A	SRGAP3	NM_014850.4(SRGAP3):c.2163C>T:p.Ser721=	coding	Benign
3	9013774	T	C	T9013774C	SRGAP3	NM_014850.4(SRGAP3):c.1882A>G:p.Ile628Val	coding	Benign
3	9026972	A	C	A9026972C	SRGAP3	NM_014850.4(SRGAP3):c.1563T>G:p.Leu521=	coding	Benign
3	9058299	G	C	G9058299C	SRGAP3	NM_014850.4(SRGAP3):c.975C>G:p.Val325=	coding	Benign
3	9058404	G	A	G9058404A	SRGAP3	NM_014850.4(SRGAP3):c.870C>T:p.Asn290=	coding	Benign
3	9060332	G	A	G9060332A	SRGAP3	NM_014850.4(SRGAP3):c.700C>T:p.Leu234=	coding	Benign
3	9064537	C	T	C9064537T	SRGAP3	NM_014850.4(SRGAP3):c.531G>A:p.Ala177=	coding	Benign
3	9248901	A	G	A9248901G	SRGAP3	NM_014850.4(SRGAP3):c.51T>C:p.Tyr17=	coding	Benign
3	9434386	G	A	G9434386A	SETD5	NM_001080517.3(SETD5):c.230G>A:p.Arg77His	coding	Benign
3	9440474	C	T	C9440474T	SETD5	NM_001080517.3(SETD5):c.586C>T:p.Gln196Ter	coding	Pathogenic
3	9440497	T	G	T9440497G	SETD5	NM_001080517.3(SETD5):c.609T>G:p.Thr203=	coding	Benign
3	9441704	C	T	C9441704T	SETD5	NM_001080517.3(SETD5):c.922C>T:p.Arg308Ter	coding	Pathogenic/Likely_pathogenic
3	9441750	G	A	G9441750A	SETD5	NM_001080517.3(SETD5):c.959+9G>A	noncoding	Benign
3	9442246	G	T	G9442246T	SETD5	NM_001080517.3(SETD5):c.1077+1G>T	coding	Pathogenic
3	9445055	A	T	A9445055T	SETD5	NM_001080517.3(SETD5):c.1195A>T:p.Lys399Ter	coding	Pathogenic
3	9445066	T	A	T9445066A	SETD5	NM_001080517.3(SETD5):c.1206T>A:p.Cys402Ter	coding	Pathogenic
3	9445193	C	T	C9445193T	SETD5	NM_001080517.3(SETD5):c.1333C>T:p.Arg445Ter	coding	Pathogenic
3	9445656	G	A	G9445656A	SETD5	NM_001080517.3(SETD5):c.1441-1G>A	noncoding	Pathogenic
3	9445714	C	T	C9445714T	SETD5	NM_001080517.3(SETD5):c.1498C>T:p.Gln500Ter	coding	Pathogenic
3	9445731	T	C	T9445731C	SETD5	NM_001080517.3(SETD5):c.1515T>C:p.His505=	coding	Benign
3	9447065	A	T	A9447065T	SETD5	NM_001080517.3(SETD5):c.1540A>T:p.Lys514Ter	coding	Pathogenic
3	9447240	C	G	C9447240G	SETD5	NM_001080517.3(SETD5):c.1715C>G:p.Ser572Ter	coding	Pathogenic
3	9447684	A	T	A9447684T	SETD5	NM_001080517.3(SETD5):c.1783-2A>T	noncoding	Pathogenic
3	9447685	G	C	G9447685C	SETD5	NM_001080517.3(SETD5):c.1783-1G>C	noncoding	Pathogenic
3	9447755	C	T	C9447755T	SETD5	NM_001080517.3(SETD5):c.1852C>T:p.Arg618Ter	coding	Pathogenic
3	9447807	A	G	A9447807G	SETD5	NM_001080517.3(SETD5):c.1904A>G:p.Gln635Arg	coding	Pathogenic
3	9447818	C	T	C9447818T	SETD5	NM_001080517.3(SETD5):c.1915C>T:p.Gln639Ter	coding	Pathogenic
3	9447821	C	T	C9447821T	SETD5	NM_001080517.3(SETD5):c.1918C>T:p.Gln640Ter	coding	Pathogenic
3	9447870	T	G	T9447870G	SETD5	NM_001080517.3(SETD5):c.1967T>G:p.Leu656Ter	coding	Pathogenic
3	9448427	C	T	C9448427T	SETD5	NM_001080517.3(SETD5):c.2143C>T:p.Gln715Ter	coding	Pathogenic
3	9448563	C	A	C9448563A	SETD5	NM_001080517.3(SETD5):c.2279C>A:p.Ser760Ter	coding	Pathogenic
3	9448586	C	T	C9448586T	SETD5	NM_001080517.3(SETD5):c.2302C>T:p.Arg768Ter	coding	Pathogenic
3	9453732	A	G	A9453732G	SETD5	NM_001080517.3(SETD5):c.2347-7A>G	noncoding	Pathogenic
3	9453748	A	T	A9453748T	SETD5	NM_001080517.3(SETD5):c.2356A>T:p.Lys786Ter	coding	Pathogenic
3	9453751	C	T	C9453751T	SETD5	NM_001080517.3(SETD5):c.2359C>T:p.Gln787Ter	coding	Pathogenic
3	9464492	T	G	T9464492G	SETD5	NM_001080517.3(SETD5):c.2544T>G:p.Leu848=	coding	Benign
3	9464601	T	C	T9464601C	SETD5	NM_001080517.3(SETD5):c.2653T>C:p.Tyr885His	coding	Benign
3	9470468	C	T	C9470468T	SETD5	NM_001080517.3(SETD5):c.2734C>T:p.Arg912Ter	coding	Pathogenic
3	9470735	C	T	C9470735T	SETD5	NM_001080517.3(SETD5):c.3001C>T:p.Arg1001Ter	coding	Pathogenic
3	9473228	C	T	C9473228T	SETD5	NM_001080517.3(SETD5):c.3196-8C>T	noncoding	Benign
3	9473254	C	T	C9473254T	SETD5	NM_001080517.3(SETD5):c.3214C>T:p.Arg1072Ter	coding	Pathogenic
3	9473364	C	T	C9473364T	SETD5	NM_001080517.3(SETD5):c.3324C>T:p.Ser1108=	coding	Benign
3	9473449	A	G	A9473449G	SETD5	NM_001080517.3(SETD5):c.3409A>G:p.Met1137Val	coding	Benign/Likely_benign
3	9474471	C	T	C9474471T	SETD5	NM_001080517.3(SETD5):c.3520C>T:p.Arg1174Ter	coding	Pathogenic
3	9474477	C	T	C9474477T	SETD5	NM_001080517.3(SETD5):c.3526C>T:p.Arg1176Ter	coding	Pathogenic
3	9474515	C	T	C9474515T	SETD5	NM_001080517.3(SETD5):c.3564C>T:p.Ser1188=	coding	Benign
3	9474537	G	T	G9474537T	SETD5	NM_001080517.3(SETD5):c.3586G>T:p.Glu1196Ter	coding	Pathogenic
3	9474551	A	G	A9474551G	SETD5	NM_001080517.3(SETD5):c.3600A>G:p.Thr1200=	coding	Benign
3	9475653	G	A	G9475653A	SETD5	NM_001080517.3(SETD5):c.3891G>A:p.Thr1297=	coding	Benign
3	9475877	C	T	C9475877T	SETD5	NM_001080517.3(SETD5):c.4115C>T:p.Thr1372Ile	coding	Benign
3	9649649	G	A	G9649649A	MTMR14	NM_001077525.3(MTMR14):c.66G>A:p.Gln22=	coding	Benign
3	9671060	G	A	G9671060A	MTMR14	NM_001077525.3(MTMR14):c.567G>A:p.Thr189=	coding	Benign/Likely_benign
3	9684962	C	T	C9684962T	MTMR14	NM_001077525.3(MTMR14):c.1125C>T:p.Phe375=	coding	Benign
3	9689035	T	C	T9689035C	MTMR14	NM_001077525.3(MTMR14):c.1386T>C:p.Tyr462=	coding	Benign
3	9734143	G	A	G9734143A	BRPF1	NM_001003694.2(BRPF1):c.3G>A:p.Met1Ile	coding	Pathogenic
3	9734203	C	T	C9734203T	BRPF1	NM_001003694.2(BRPF1):c.63C>T:p.Tyr21=	coding	Benign
3	9734335	G	A	G9734335A	BRPF1	NM_001003694.2(BRPF1):c.195G>A:p.Gly65=	coding	Benign
3	9734426	C	T	C9734426T	BRPF1	NM_001003694.2(BRPF1):c.286C>T:p.Gln96Ter	coding	Pathogenic
3	9734437	G	A	G9734437A	BRPF1	NM_001003694.2(BRPF1):c.297G>A:p.Val99=	coding	Benign
3	9734494	G	T	G9734494T	BRPF1	NM_001003694.2(BRPF1):c.354G>T:p.Val118=	coding	Benign
3	9739053	C	T	C9739053T	BRPF1	NM_001003694.2(BRPF1):c.654C>T:p.Asp218=	coding	Benign
3	9739122	G	A	G9739122A	BRPF1	NM_001003694.2(BRPF1):c.723G>A:p.Pro241=	coding	Benign
3	9739303	C	T	C9739303T	BRPF1	NM_001003694.2(BRPF1):c.904C>T:p.Gln302Ter	coding	Pathogenic
3	9739507	C	T	C9739507T	BRPF1	NM_001003694.2(BRPF1):c.1108C>T:p.Pro370Ser	coding	Pathogenic
3	9739564	T	C	T9739564C	BRPF1	NM_001003694.2(BRPF1):c.1165T>C:p.Cys389Arg	coding	Pathogenic
3	9739617	C	G	C9739617G	BRPF1	NM_001003694.2(BRPF1):c.1218C>G:p.Tyr406Ter	coding	Pathogenic
3	9739762	C	T	C9739762T	BRPF1	NM_001003694.2(BRPF1):c.1363C>T:p.Arg455Ter	coding	Pathogenic
3	9743254	G	A	G9743254A	BRPF1	NM_001003694.2(BRPF1):c.2311+1G>A	coding	Pathogenic
3	9743582	C	T	C9743582T	BRPF1	NM_001003694.2(BRPF1):c.2316C>T:p.Ala772=	coding	Benign
3	9743763	C	T	C9743763T	BRPF1	NM_001003694.2(BRPF1):c.2497C>T:p.Arg833Ter	coding	Pathogenic
3	9743809	G	A	G9743809A	BRPF1	NM_001003694.2(BRPF1):c.2543G>A:p.Arg848Gln	coding	Benign
3	9745024	C	T	C9745024T	BRPF1	NM_001003694.2(BRPF1):c.2937C>T:p.Gly979=	coding	Benign
3	9745069	C	G	C9745069G	BRPF1	NM_001003694.2(BRPF1):c.2982C>G:p.Tyr994Ter	coding	Pathogenic
3	9745904	C	T	C9745904T	BRPF1	NM_001003694.2(BRPF1):c.3298C>T:p.Arg1100Ter	coding	Pathogenic
3	9750423	G	A	G9750423A	OGG1	NM_002542.5(OGG1):c.137G>A:p.Arg46Gln	coding	Pathogenic
3	9757056	T	C	T9757056C	OGG1	NM_002542.5(OGG1):c.949-5T>C	coding	Benign
3	9785375	C	T	C9785375T	TADA3	NM_001278270.1(TADA3):c.861G>A:p.Gly287=	coding	Benign
3	9789739	C	T	C9789739T	TADA3	NM_001278270.1(TADA3):c.432G>A:p.Arg144=	coding	Benign
3	9825800	C	T	C9825800T	TTLL3	NM_001025930.5(TTLL3):c.1155C>T:p.His385=	coding	Benign
3	9826993	G	A	G9826993A	TTLL3	NM_001025930.5(TTLL3):c.1304-4G>A	noncoding	Benign
3	9867248	T	C	T9867248C	CIDEC	NM_001321142.2(CIDEC):c.603A>G:p.Val201=	coding	Benign
3	9867295	C	A	C9867295A	CIDEC	NM_001321142.2(CIDEC):c.556G>T:p.Glu186Ter	coding	Pathogenic
3	9870266	A	G	A9870266G	CIDEC	NM_001321142.2(CIDEC):c.264T>C:p.Asp88=	coding	Benign
3	9877092	A	G	A9877092G	CIDEC	NM_001321142.2(CIDEC):c.181T>C:p.Tyr61His	coding	Benign
3	9877098	T	C	T9877098C	CIDEC	NM_001321142.2(CIDEC):c.175A>G:p.Met59Val	coding	Benign
3	9877127	G	A	G9877127A	CIDEC	NM_001321142.2(CIDEC):c.146C>T:p.Thr49Met	coding	Benign
3	9890723	A	G	A9890723G	JAGN1	NM_032492.4(JAGN1):c.1A>G:p.Met1Val	coding	Benign/Likely_benign
3	9890725	G	A	G9890725A	JAGN1	NM_032492.4(JAGN1):c.3G>A:p.Met1Ile	coding	Pathogenic
3	9890743	G	C	G9890743C	JAGN1	NM_032492.4(JAGN1):c.21G>C:p.Pro7=	coding	Benign
3	9890762	G	A	G9890762A	JAGN1	NM_032492.4(JAGN1):c.40G>A:p.Gly14Ser	coding	Pathogenic
3	9890781	G	A	G9890781A	JAGN1	NM_032492.4(JAGN1):c.59G>A:p.Arg20Gln	coding	Pathogenic
3	9892955	C	T	C9892955T	JAGN1	NM_032492.4(JAGN1):c.130C>T:p.His44Tyr	coding	Pathogenic
3	9893069	A	G	A9893069G	JAGN1	NM_032492.4(JAGN1):c.244A>G:p.Ile82Val	coding	Benign
3	9893122	C	G	C9893122G	JAGN1	NM_032492.4(JAGN1):c.297C>G:p.Tyr99Ter	coding	Pathogenic
3	9893140	C	A	C9893140A	JAGN1	NM_032492.4(JAGN1):c.315C>A:p.Ile105=	coding	Benign
3	9893228	G	A	G9893228A	JAGN1	NM_032492.4(JAGN1):c.403G>A:p.Ala135Thr	coding	Benign
3	9893310	A	G	A9893310G	JAGN1	NM_032492.4(JAGN1):c.485A>G:p.Gln162Arg	coding	Pathogenic
3	9893323	C	T	C9893323T	JAGN1	NM_032492.4(JAGN1):c.498C>T:p.Ser166=	coding	Benign
3	9902952	C	T	C9902952T	IL17RE	NM_153480.2(IL17RE):c.20C>T:p.Ala7Val	coding	Benign
3	9907090	A	G	A9907090G	IL17RE	NM_153480.2(IL17RE):c.656A>G:p.Tyr219Cys	coding	Benign
3	9910875	C	A	C9910875A	IL17RE	NM_153480.2(IL17RE):c.813C>A:p.Asp271Glu	coding	Benign
3	9910984	G	A	G9910984A	IL17RE	NM_153480.2(IL17RE):c.922G>A:p.Asp308Asn	coding	Benign
3	9917327	C	G	C9917327G	IL17RC	NM_153460.4(IL17RC):c.12C>G:p.Pro4=	coding	Benign
3	9917349	C	T	C9917349T	IL17RC	NM_153460.4(IL17RC):c.34C>T:p.Leu12=	coding	Benign
3	9917444	C	T	C9917444T	IL17RC	NM_153460.4(IL17RC):c.105+24C>T	coding	Benign
3	9917482	G	A	G9917482A	IL17RC	NM_153460.4(IL17RC):c.105+62G>A	coding	Benign
3	9917726	G	A	G9917726A	IL17RC	NM_153460.4(IL17RC):c.119G>A:p.Arg40His	coding	Benign
3	9917948	G	A	G9917948A	IL17RC	NM_153460.4(IL17RC):c.153G>A:p.Gly51=	coding	Benign
3	9917981	G	A	G9917981A	IL17RC	NM_153460.4(IL17RC):c.186G>A:p.Ala62=	coding	Benign
3	9917994	C	T	C9917994T	IL17RC	NM_153460.4(IL17RC):c.199C>T:p.Gln67Ter	coding	Pathogenic
3	9920938	C	T	C9920938T	IL17RC	NM_153460.4(IL17RC):c.591C>T:p.Leu197=	coding	Benign
3	9920977	C	T	C9920977T	IL17RC	NM_153460.4(IL17RC):c.622+8C>T	noncoding	Benign
3	9923898	G	A	G9923898A	IL17RC	NM_153460.4(IL17RC):c.640G>A:p.Val214Met	coding	Benign
3	9924029	T	A	T9924029A	IL17RC	NM_153460.4(IL17RC):c.762+9T>A	coding	Benign
3	9924243	G	C	G9924243C	IL17RC	NM_153460.4(IL17RC):c.774G>C:p.Gln258His	coding	Benign
3	9928162	C	T	C9928162T	IL17RC	NM_153460.4(IL17RC):c.823-4C>T	noncoding	Benign
3	9928340	C	T	C9928340T	IL17RC	NM_153460.4(IL17RC):c.913C>T:p.Arg305Ter	coding	Pathogenic
3	9928378	C	T	C9928378T	IL17RC	NM_153460.4(IL17RC):c.951C>T:p.Asp317=	coding	Benign
3	9928379	G	A	G9928379A	IL17RC	NM_153460.4(IL17RC):c.952G>A:p.Ala318Thr	coding	Benign
3	9928397	G	A	G9928397A	IL17RC	NM_153460.4(IL17RC):c.970G>A:p.Ala324Thr	coding	Benign
3	9928437	C	T	C9928437T	IL17RC	NM_153460.4(IL17RC):c.1010C>T:p.Pro337Leu	coding	Benign
3	9930918	G	A	G9930918A	IL17RC	NM_153460.4(IL17RC):c.1362G>A:p.Ala454=	coding	Benign
3	9932859	G	C	G9932859C	IL17RC	NM_153460.4(IL17RC):c.1522+1G>C	coding	Benign
3	9933090	C	G	C9933090G	IL17RC	NM_153460.4(IL17RC):c.1660C>G:p.Leu554Val	coding	Benign
3	9933110	G	A	G9933110A	IL17RC	NM_153460.4(IL17RC):c.1680G>A:p.Val560=	coding	Benign
3	9933242	C	G	C9933242G	IL17RC	NM_153460.4(IL17RC):c.1812C>G:p.Gly604=	coding	Benign
3	9933455	G	A	G9933455A	IL17RC	NM_153460.4(IL17RC):c.2025G>A:p.Gly675=	coding	Benign
3	9934927	T	G	T9934927G	CRELD1	NM_001077415.3(CRELD1):c.257+10T>G	noncoding	Benign
3	9938029	C	G	C9938029G	CRELD1	NM_001077415.3(CRELD1):c.383C>G:p.Pro128Arg	coding	Benign
3	9940887	C	T	C9940887T	CRELD1	NM_001077415.3(CRELD1):c.498C>T:p.Tyr166=	coding	Benign/Likely_benign
3	9941005	G	A	G9941005A	CRELD1	NM_001077415.3(CRELD1):c.616G>A:p.Ala206Thr	coding	Benign
3	9943171	C	T	C9943171T	CRELD1	NM_001077415.3(CRELD1):c.912C>T:p.Leu304=	coding	Benign
3	9943412	G	A	G9943412A	CRELD1	NM_001077415.3(CRELD1):c.945G>A:p.Pro315=	coding	Benign
3	9943972	C	T	C9943972T	CRELD1	NM_001077415.3(CRELD1):c.1049-393C>T	coding	Benign
3	9944013	C	T	C9944013T	CRELD1	NM_001077415.3(CRELD1):c.1049-352C>T	coding	Benign
3	9944420	G	A	G9944420A	CRELD1	NM_001077415.3(CRELD1):c.1104G>A:p.Gln368=	coding	Benign
3	10028652	G	C	G10028652C	FANCD2	NM_033084.5(FANCD2):c.-6G>C	noncoding	Benign
3	10028659	T	C	T10028659C	FANCD2	NM_001018115.3(FANCD2):c.2T>C:p.Met1Thr	coding	Pathogenic
3	10028733	G	C	G10028733C	FANCD2	NM_033084.5(FANCD2):c.64+12G>C	noncoding	Benign
3	10032962	G	C	G10032962C	FANCD2	NM_033084.5(FANCD2):c.195G>C:p.Gln65His	coding	Benign
3	10032981	T	G	T10032981G	FANCD2	NM_033084.5(FANCD2):c.205+9T>G	noncoding	Benign
3	10034467	A	T	A10034467T	FANCD2	NM_001018115.3(FANCD2):c.206-2A>T	noncoding	Pathogenic
3	10034797	A	G	A10034797G	FANCD2	NM_001018115.3(FANCD2):c.376A>G:p.Ser126Gly	coding	Pathogenic
3	10036271	A	G	A10036271G	FANCD2	NM_001018115.2(FANCD2):c.439-16A>G	noncoding	Benign
3	10039303	A	G	A10039303G	FANCD2	NM_033084.5(FANCD2):c.516A>G:p.Ile172Met	coding	Benign
3	10039690	G	A	G10039690A	FANCD2	NM_001018115.2(FANCD2):c.571-31G>A	noncoding	Benign
3	10039727	A	G	A10039727G	FANCD2	NM_033084.5(FANCD2):c.577A>G:p.Thr193Ala	coding	Benign
3	10039842	T	G	T10039842G	FANCD2	NM_001018115.3(FANCD2):c.692T>G:p.Leu231Arg	coding	Pathogenic
3	10039861	G	C	G10039861C	FANCD2	NM_001018115.2(FANCD2):c.695+16G>C	noncoding	Benign
3	10041485	C	T	C10041485T	FANCD2	NM_033084.5(FANCD2):c.696-138C>T	noncoding	Benign
3	10041502	C	G	C10041502G	FANCD2	NM_001018115.3(FANCD2):c.696-121C>G	noncoding	Pathogenic
3	10041621	A	T	A10041621T	FANCD2	NM_001018115.3(FANCD2):c.696-2A>T	noncoding	Pathogenic
3	10041684	C	T	C10041684T	FANCD2	NM_033084.5(FANCD2):c.757C>T:p.Arg253Ter	coding	Pathogenic
3	10041709	A	T	A10041709T	FANCD2	NM_001018115.3(FANCD2):c.782A>T:p.Lys261Met	coding	Pathogenic
3	10042540	C	T	C10042540T	FANCD2	NM_001018115.2(FANCD2):c.784-19C>T	noncoding	Benign
3	10043065	C	T	C10043065T	FANCD2	NM_033084.5(FANCD2):c.904C>T:p.Arg302Trp	coding	Pathogenic/Likely_pathogenic
3	10043119	C	T	C10043119T	FANCD2	NM_033084.5(FANCD2):c.958C>T:p.Gln320Ter	coding	Pathogenic
3	10043144	G	A	G10043144A	FANCD2	NM_033084.5(FANCD2):c.983G>A:p.Arg328Gln	coding	Benign/Likely_benign
3	10043446	C	G	C10043446G	FANCD2	NM_001018115.2(FANCD2):c.990-38C>G	noncoding	Benign
3	10043483	G	A	G10043483A	FANCD2	NM_033084.5(FANCD2):c.990-1G>A	noncoding	Pathogenic
3	10043586	G	A	G10043586A	FANCD2	NM_001018115.3(FANCD2):c.1092G>A:p.Trp364Ter	coding	Pathogenic
3	10043852	A	G	A10043852G	FANCD2	NM_033084.5(FANCD2):c.1122A>G:p.Val374=	coding	Benign
3	10046555	G	A	G10046555A	FANCD2	NM_001018115.3(FANCD2):c.1135-25G>A	noncoding	Benign
3	10046582	G	T	G10046582T	FANCD2	NM_033084.5(FANCD2):c.1137G>T:p.Val379=	coding	Benign
3	10046601	T	G	T10046601G	FANCD2	NM_033084.5(FANCD2):c.1156T>G:p.Phe386Val	coding	Benign
3	10046615	C	T	C10046615T	FANCD2	NM_033084.5(FANCD2):c.1170C>T:p.Ser390=	coding	Benign/Likely_benign
3	10046624	T	C	T10046624C	FANCD2	NM_033084.5(FANCD2):c.1179T>C:p.Thr393=	coding	Benign/Likely_benign
3	10046659	A	G	A10046659G	FANCD2	NM_033084.5(FANCD2):c.1214A>G:p.Asn405Ser	coding	Benign
3	10046720	C	T	C10046720T	FANCD2	NM_033084.5(FANCD2):c.1275C>T:p.Tyr425=	coding	Benign
3	10046738	C	T	C10046738T	FANCD2	NM_001018115.3(FANCD2):c.1278+15C>T	noncoding	Benign
3	10047974	C	G	C10047974G	FANCD2	NM_033084.5(FANCD2):c.1336C>G:p.Leu446Val	coding	Benign/Likely_benign
3	10048005	T	G	T10048005G	FANCD2	NM_033084.5(FANCD2):c.1367T>G:p.Leu456Arg	coding	Benign/Likely_benign
3	10048008	T	C	T10048008C	FANCD2	NM_001018115.3(FANCD2):c.1370T>C:p.Leu457Pro	coding	Pathogenic
3	10048039	G	A	G10048039A	FANCD2	NM_033084.5(FANCD2):c.1401G>A:p.Thr467=	coding	Benign
3	10048054	A	G	A10048054G	FANCD2	NM_033084.5(FANCD2):c.1413+3A>G	noncoding	Benign
3	10048065	T	C	T10048065C	FANCD2	NM_033084.5(FANCD2):c.1413+14T>C	noncoding	Benign
3	10048089	A	C	A10048089C	FANCD2	NM_001018115.2(FANCD2):c.1413+38A>C	noncoding	Benign
3	10049351	T	C	T10049351C	FANCD2	NM_001018115.2(FANCD2):c.1414-23T>C	noncoding	Benign
3	10049365	C	T	C10049365T	FANCD2	NM_033084.5(FANCD2):c.1414-9C>T	noncoding	Benign
3	10049469	C	T	C10049469T	FANCD2	NM_033084.5(FANCD2):c.1509C>T:p.Asn503=	coding	Benign
3	10052475	A	G	A10052475G	FANCD2	NM_033084.5(FANCD2):c.1634A>G:p.Asn545Ser	coding	Benign/Likely_benign
3	10060312	A	G	A10060312G	FANCD2	NM_033084.5(FANCD2):c.1675A>G:p.Ile559Val	coding	Benign
3	10063832	A	C	A10063832C	FANCD2	NM_033084.5(FANCD2):c.1868A>C:p.Gln623Pro	coding	Benign/Likely_benign
3	10064340	T	G	T10064340G	FANCD2	NM_001018115.3(FANCD2):c.1948-16T>G	noncoding	Pathogenic
3	10064350	C	A	C10064350A	FANCD2	NM_001018115.3(FANCD2):c.1948-6C>A	noncoding	Pathogenic
3	10064724	C	T	C10064724T	FANCD2	NM_033084.5(FANCD2):c.2022-5C>T	noncoding	Benign/Likely_benign
3	10064831	T	C	T10064831C	FANCD2	NM_033084.5(FANCD2):c.2124T>C:p.Phe708=	coding	Benign
3	10064848	C	T	C10064848T	FANCD2	NM_033084.5(FANCD2):c.2141C>T:p.Pro714Leu	coding	Benign
3	10064855	C	G	C10064855G	FANCD2	NM_033084.5(FANCD2):c.2148C>G:p.Thr716=	coding	Benign
3	10065429	G	A	G10065429A	FANCD2;LOC107303338	NM_001018115.3(FANCD2):c.2204G>A:p.Arg735Gln	coding	Pathogenic
3	10065531	A	G	A10065531G	FANCD2	NM_001018115.2(FANCD2):c.2269+37A>G	noncoding	Benign
3	10065836	G	T	G10065836T	FANCD2	NM_001018115.2(FANCD2):c.2270-28G>T	noncoding	Benign
3	10067227	C	T	C10067227T	FANCD2	NM_001018115.3(FANCD2):c.2404C>T:p.Gln802Ter	coding	Pathogenic
3	10067267	G	A	G10067267A	FANCD2	NM_033084.5(FANCD2):c.2444G>A:p.Arg815Gln	coding	Pathogenic
3	10067307	G	A	G10067307A	FANCD2	NM_033084.5(FANCD2):c.2484G>A:p.Lys828=	coding	Benign/Likely_benign
3	10067310	C	G	C10067310G	FANCD2	NM_033084.5(FANCD2):c.2487C>G:p.Tyr829Ter	coding	Pathogenic/Likely_pathogenic
3	10073349	G	T	G10073349T	FANCD2	NM_033084.5(FANCD2):c.2702G>T:p.Gly901Val	coding	Benign
3	10073359	C	T	C10073359T	FANCD2	NM_033084.5(FANCD2):c.2712C>T:p.Asn904=	coding	Benign
3	10073363	G	A	G10073363A	FANCD2	NM_001018115.3(FANCD2):c.2715+1G>A	coding	Pathogenic
3	10074537	C	T	C10074537T	FANCD2	NM_033084.5(FANCD2):c.2723C>T:p.Thr908Ile	coding	Benign
3	10078098	A	G	A10078098G	FANCD2	NM_033084.5(FANCD2):c.2877A>G:p.Gln959=	coding	Benign/Likely_benign
3	10078233	T	C	T10078233C	FANCD2	NM_001018115.2(FANCD2):c.2976+36T>C	noncoding	Benign
3	10087244	C	T	C10087244T	FANCD2	NM_173472.2(FANCD2OS):c.44-5713G>A	coding	Benign/Likely_benign
3	10088523	C	T	C10088523T	FANCD2	NM_001018115.3(FANCD2):c.3541C>T:p.Gln1181Ter	coding	Pathogenic
3	10090314	C	A	C10090314A	FANCD2	NM_001018115.3(FANCD2):c.3706C>A:p.Arg1236Ser	coding	Pathogenic
3	10092206	G	A	G10092206A	FANCD2	NM_001018115.3(FANCD2):c.3803G>A:p.Trp1268Ter	coding	Pathogenic
3	10092265	A	G	A10092265G	FANCD2	NM_173472.2(FANCD2OS):c.44-10734T>C	noncoding	Benign
3	10095282	G	A	G10095282A	FANCD2	NM_173472.2(FANCD2OS):c.43+8916C>T	noncoding	Benign/Likely_benign
3	10096385	T	G	T10096385G	FANCD2	NM_173472.2(FANCD2OS):c.43+7813A>C	coding	Benign
3	10096505	T	C	T10096505C	FANCD2	NM_173472.2(FANCD2OS):c.43+7693A>G	noncoding	Benign
3	10098987	G	A	G10098987A	FANCD2	NM_173472.2(FANCD2OS):c.43+5211C>T	coding	Benign
3	10099012	A	G	A10099012G	FANCD2	NM_173472.2(FANCD2OS):c.43+5186T>C	coding	Benign
3	10099381	T	G	T10099381G	FANCD2	NM_173472.2(FANCD2OS):c.43+4817A>C	coding	Benign
3	10099488	G	A	G10099488A	FANCD2	NM_173472.2(FANCD2OS):c.43+4710C>T	coding	Benign
3	10099500	C	T	C10099500T	FANCD2	NM_173472.2(FANCD2OS):c.43+4698G>A	coding	Benign
3	10101265	C	T	C10101265T	FANCD2	NM_173472.2(FANCD2OS):c.43+2933G>A	noncoding	Benign
3	10141653	G	A	G10141653A	VHL	NM_000551.3(VHL):c.-195G>A	noncoding	Benign
3	10141771	C	T	C10141771T	VHL	NM_000551.3(VHL):c.-77C>T	noncoding	Benign/Likely_benign
3	10141822	C	G	C10141822G	VHL	NM_000551.3(VHL):c.-26C>G	noncoding	Benign
3	10141921	C	T	C10141921T	VHL	NM_000551.3(VHL):c.74C>T:p.Pro25Leu	coding	Benign/Likely_benign
3	10141997	C	G	C10141997G	VHL	NM_000551.4(VHL):c.150C>G:p.Ala50=	coding	Benign/Likely_benign
3	10142030	C	T	C10142030T	VHL	NM_000551.3(VHL):c.183C>T:p.Pro61=	coding	Benign/Likely_benign
3	10142038	G	C	G10142038C	VHL	NM_000551.3(VHL):c.191G>C:p.Arg64Pro	coding	Pathogenic/Likely_pathogenic
3	10142040	T	C	T10142040C	VHL	NM_000551.3(VHL):c.193T>C:p.Ser65Pro	coding	Pathogenic
3	10142041	C	A	C10142041A	VHL	NM_000551.3(VHL):c.194C>A:p.Ser65Ter	coding	Pathogenic
3	10142041	C	G	C10142041G	VHL	NM_000551.4(VHL):c.194C>G:p.Ser65Trp	coding	Pathogenic
3	10142041	C	T	C10142041T	VHL	NM_000551.3(VHL):c.194C>T:p.Ser65Leu	coding	Pathogenic
3	10142050	C	A	C10142050A	VHL	NM_000551.3(VHL):c.203C>A:p.Ser68Ter	coding	Pathogenic
3	10142055	G	A	G10142055A	VHL	NM_000551.4(VHL):c.208G>A:p.Glu70Lys	coding	Pathogenic/Likely_pathogenic
3	10142055	G	T	G10142055T	VHL	NM_000551.3(VHL):c.208G>T:p.Glu70Ter	coding	Pathogenic
3	10142060	C	T	C10142060T	VHL	NM_000551.3(VHL):c.213C>T:p.Pro71=	coding	Benign/Likely_benign
3	10142064	C	T	C10142064T	VHL	NM_000551.3(VHL):c.217C>T:p.Gln73Ter	coding	Pathogenic
3	10142069	C	A	C10142069A	VHL	NM_000551.4(VHL):c.222C>A:p.Val74=	coding	Pathogenic
3	10142079	A	C	A10142079C	VHL	NM_000551.3(VHL):c.232A>C:p.Asn78His	coding	Pathogenic
3	10142079	A	G	A10142079G	VHL	NM_000551.3(VHL):c.232A>G:p.Asn78Asp	coding	Pathogenic
3	10142080	A	G	A10142080G	VHL	NM_000551.3(VHL):c.233A>G:p.Asn78Ser	coding	Pathogenic
3	10142085	A	C	A10142085C	VHL	NM_000551.3(VHL):c.238A>C:p.Ser80Arg	coding	Pathogenic
3	10142086	G	T	G10142086T	VHL	NM_000551.3(VHL):c.239G>T:p.Ser80Ile	coding	Pathogenic
3	10142092	G	C	G10142092C	VHL	NM_000551.3(VHL):c.245G>C:p.Arg82Pro	coding	Pathogenic
3	10142092	G	T	G10142092T	VHL	NM_000551.3(VHL):c.245G>T:p.Arg82Leu	coding	Pathogenic
3	10142093	C	T	C10142093T	VHL	NM_000551.3(VHL):c.246C>T:p.Arg82=	coding	Benign/Likely_benign
3	10142097	G	C	G10142097C	VHL	NM_000551.3(VHL):c.250G>C:p.Val84Leu	coding	Pathogenic
3	10142097	G	T	G10142097T	VHL	NM_000551.4(VHL):c.250G>T:p.Val84Leu	coding	Pathogenic
3	10142103	C	G	C10142103G	VHL	NM_000551.3(VHL):c.256C>G:p.Pro86Ala	coding	Pathogenic/Likely_pathogenic
3	10142103	C	T	C10142103T	VHL	NM_000551.4(VHL):c.256C>T:p.Pro86Ser	coding	Pathogenic/Likely_pathogenic
3	10142104	C	G	C10142104G	VHL	NM_000551.3(VHL):c.257C>G:p.Pro86Arg	coding	Pathogenic
3	10142104	C	T	C10142104T	VHL	NM_000551.3(VHL):c.257C>T:p.Pro86Leu	coding	Pathogenic
3	10142109	T	A	T10142109A	VHL	NM_000551.3(VHL):c.262T>A:p.Trp88Arg	coding	Pathogenic
3	10142109	T	C	T10142109C	VHL	NM_000551.3(VHL):c.262T>C:p.Trp88Arg	coding	Pathogenic
3	10142110	G	A	G10142110A	VHL	NM_000551.3(VHL):c.263G>A:p.Trp88Ter	coding	Pathogenic
3	10142110	G	C	G10142110C	VHL	NM_000551.3(VHL):c.263G>C:p.Trp88Ser	coding	Pathogenic
3	10142111	G	A	G10142111A	VHL	NM_000551.4(VHL):c.264G>A:p.Trp88Ter	coding	Pathogenic
3	10142111	G	C	G10142111C	VHL	NM_000551.3(VHL):c.264G>C:p.Trp88Cys	coding	Pathogenic
3	10142111	G	T	G10142111T	VHL	NM_000551.3(VHL):c.264G>T:p.Trp88Cys	coding	Pathogenic/Likely_pathogenic
3	10142113	T	C	T10142113C	VHL	NM_000551.3(VHL):c.266T>C:p.Leu89Pro	coding	Pathogenic/Likely_pathogenic
3	10142124	G	A	G10142124A	VHL	NM_000551.3(VHL):c.277G>A:p.Gly93Ser	coding	Pathogenic
3	10142124	G	T	G10142124T	VHL	NM_000551.3(VHL):c.277G>T:p.Gly93Cys	coding	Pathogenic
3	10142125	G	A	G10142125A	VHL	NM_000551.3(VHL):c.278G>A:p.Gly93Asp	coding	Pathogenic
3	10142127	G	T	G10142127T	VHL	NM_000551.3(VHL):c.280G>T:p.Glu94Ter	coding	Pathogenic
3	10142133	C	T	C10142133T	VHL	NM_000551.3(VHL):c.286C>T:p.Gln96Ter	coding	Pathogenic
3	10142139	T	C	T10142139C	VHL	NM_000551.3(VHL):c.292T>C:p.Tyr98His	coding	Pathogenic
3	10142140	A	C	A10142140C	VHL	NM_000551.3(VHL):c.293A>C:p.Tyr98Ser	coding	Pathogenic
3	10142140	A	G	A10142140G	VHL	NM_000551.3(VHL):c.293A>G:p.Tyr98Cys	coding	Pathogenic
3	10142141	C	G	C10142141G	VHL	NM_000551.3(VHL):c.294C>G:p.Tyr98Ter	coding	Pathogenic
3	10142160	A	C	A10142160C	VHL	NM_000551.3(VHL):c.313A>C:p.Thr105Pro	coding	Pathogenic
3	10142166	C	G	C10142166G	VHL	NM_000551.4(VHL):c.319C>G:p.Arg107Gly	coding	Pathogenic/Likely_pathogenic
3	10142167	G	A	G10142167A	VHL	NM_000551.3(VHL):c.320G>A:p.Arg107His	coding	Pathogenic
3	10142178	A	G	A10142178G	VHL	NM_000551.3(VHL):c.331A>G:p.Ser111Gly	coding	Pathogenic/Likely_pathogenic
3	10142178	A	T	A10142178T	VHL	NM_000551.3(VHL):c.331A>T:p.Ser111Cys	coding	Pathogenic
3	10142179	G	A	G10142179A	VHL	NM_000551.3(VHL):c.332G>A:p.Ser111Asn	coding	Pathogenic
3	10142180	C	G	C10142180G	VHL	NM_000551.3(VHL):c.333C>G:p.Ser111Arg	coding	Pathogenic/Likely_pathogenic
3	10142181	T	A	T10142181A	VHL	NM_000551.3(VHL):c.334T>A:p.Tyr112Asn	coding	Pathogenic
3	10142181	T	C	T10142181C	VHL	NM_000551.3(VHL):c.334T>C:p.Tyr112His	coding	Pathogenic
3	10142183	C	G	C10142183G	VHL	NM_000551.3(VHL):c.336C>G:p.Tyr112Ter	coding	Pathogenic/Likely_pathogenic
3	10142184	C	T	C10142184T	VHL	NM_000551.3(VHL):c.337C>T:p.Arg113Ter	coding	Pathogenic
3	10142187	G	A	G10142187A	VHL	NM_000551.3(VHL):c.340G>A:p.Gly114Ser	coding	Pathogenic
3	10142187	G	C	G10142187C	VHL	NM_000551.3(VHL):c.340G>C:p.Gly114Arg	coding	Pathogenic
3	10142188	G	A	G10142188A	VHL	NM_000551.3(VHL):c.340+1G>A	coding	Pathogenic
3	10142192	G	C	G10142192C	VHL	NM_000551.4(VHL):c.340+5G>C	noncoding	Benign/Likely_benign
3	10146477	G	A	G10146477A	VHL	NM_000551.3(VHL):c.341-37G>A	noncoding	Benign
3	10146512	A	G	A10146512G	VHL	NM_000551.3(VHL):c.341-2A>G	noncoding	Pathogenic
3	10146513	G	A	G10146513A	VHL	NM_000551.4(VHL):c.341-1G>A	noncoding	Pathogenic
3	10146518	C	A	C10146518A	VHL	NM_000551.3(VHL):c.345C>A:p.His115Gln	coding	Pathogenic/Likely_pathogenic
3	10146522	T	G	T10146522G	VHL	NM_000551.4(VHL):c.349T>G:p.Trp117Gly	coding	Pathogenic
3	10146523	G	A	G10146523A	VHL	NM_000551.3(VHL):c.350G>A:p.Trp117Ter	coding	Pathogenic
3	10146524	G	T	G10146524T	VHL	NM_000551.3(VHL):c.351G>T:p.Trp117Cys	coding	Pathogenic
3	10146526	T	C	T10146526C	VHL	NM_000551.3(VHL):c.353T>C:p.Leu118Pro	coding	Pathogenic
3	10146526	T	G	T10146526G	VHL	NM_000551.3(VHL):c.353T>G:p.Leu118Arg	coding	Pathogenic
3	10146528	T	C	T10146528C	VHL	NM_000551.3(VHL):c.355T>C:p.Phe119Leu	coding	Pathogenic
3	10146530	C	G	C10146530G	VHL	NM_000551.3(VHL):c.357C>G:p.Phe119Leu	coding	Pathogenic
3	10146535	A	G	A10146535G	VHL	NM_000551.3(VHL):c.362A>G:p.Asp121Gly	coding	Pathogenic/Likely_pathogenic
3	10146547	A	C	A10146547C	VHL	NM_000551.3(VHL):c.374A>C:p.His125Pro	coding	Pathogenic
3	10146561	G	C	G10146561C	VHL	NM_000551.3(VHL):c.388G>C:p.Val130Leu	coding	Pathogenic
3	10146567	C	T	C10146567T	VHL	NM_000551.3(VHL):c.394C>T:p.Gln132Ter	coding	Pathogenic
3	10146568	A	C	A10146568C	VHL	NM_000551.3(VHL):c.395A>C:p.Gln132Pro	coding	Pathogenic
3	10146578	A	C	A10146578C	VHL	NM_198156.3(VHL):c.341-3209A>C	coding	Pathogenic
3	10146580	T	C	T10146580C	VHL	NM_000551.3(VHL):c.407T>C:p.Phe136Ser	coding	Pathogenic/Likely_pathogenic
3	10146587	A	G	A10146587G	VHL	NM_000551.4(VHL):c.414A>G:p.Pro138=	coding	Pathogenic
3	10146603	G	T	G10146603T	VHL	NM_000551.3(VHL):c.430G>T:p.Gly144Ter	coding	Pathogenic
3	10146606	C	T	C10146606T	VHL	NM_000551.3(VHL):c.433C>T:p.Gln145Ter	coding	Pathogenic
3	10146618	G	A	G10146618A	VHL	NM_000551.3(VHL):c.445G>A:p.Ala149Thr	coding	Pathogenic
3	10146618	G	T	G10146618T	VHL	NM_000551.3(VHL):c.445G>T:p.Ala149Ser	coding	Pathogenic
3	10146625	T	C	T10146625C	VHL	NM_000551.3(VHL):c.452T>C:p.Ile151Thr	coding	Pathogenic
3	10146625	T	G	T10146625G	VHL	NM_000551.3(VHL):c.452T>G:p.Ile151Ser	coding	Pathogenic
3	10146634	C	T	C10146634T	VHL	NM_000551.3(VHL):c.461C>T:p.Pro154Leu	coding	Pathogenic
3	10146637	G	A	G10146637A	VHL	NM_000551.3(VHL):c.463+1G>A	coding	Pathogenic
3	10146637	G	C	G10146637C	VHL	NM_000551.3(VHL):c.463+1G>C	coding	Pathogenic
3	10146638	T	C	T10146638C	VHL	NM_000551.3(VHL):c.463+2T>C	noncoding	Pathogenic
3	10149634	C	G	C10149634G	VHL	NM_000551.3(VHL):c.464-153C>G	noncoding	Benign
3	10149777	G	A	G10149777A	VHL	NM_000551.3(VHL):c.464-10G>A	noncoding	Benign/Likely_benign
3	10149785	A	G	A10149785G	VHL	NM_000551.3(VHL):c.464-2A>G	noncoding	Pathogenic
3	10149786	G	A	G10149786A	VHL	NM_000551.4(VHL):c.464-1G>A	noncoding	Pathogenic
3	10149786	G	C	G10149786C	VHL	NM_000551.3(VHL):c.464-1G>C	noncoding	Pathogenic
3	10149786	G	T	G10149786T	VHL	NM_000551.3(VHL):c.464-1G>T	noncoding	Pathogenic
3	10149790	A	G	A10149790G	VHL	NM_000551.4(VHL):c.467A>G:p.Tyr156Cys	coding	Pathogenic/Likely_pathogenic
3	10149793	C	T	C10149793T	VHL	NM_000551.3(VHL):c.470C>T:p.Thr157Ile	coding	Pathogenic
3	10149795	C	G	C10149795G	VHL	NM_000551.3(VHL):c.472C>G:p.Leu158Val	coding	Pathogenic
3	10149796	T	C	T10149796C	VHL	NM_000551.3(VHL):c.473T>C:p.Leu158Pro	coding	Pathogenic
3	10149804	C	G	C10149804G	VHL	NM_000551.3(VHL):c.481C>G:p.Arg161Gly	coding	Pathogenic
3	10149804	C	T	C10149804T	VHL	NM_000551.4(VHL):c.481C>T:p.Arg161Ter	coding	Pathogenic
3	10149805	G	A	G10149805A	VHL	NM_000551.3(VHL):c.482G>A:p.Arg161Gln	coding	Pathogenic
3	10149807	T	C	T10149807C	VHL	NM_000551.3(VHL):c.484T>C:p.Cys162Arg	coding	Pathogenic
3	10149808	G	A	G10149808A	VHL	NM_000551.3(VHL):c.485G>A:p.Cys162Tyr	coding	Pathogenic
3	10149808	G	T	G10149808T	VHL	NM_000551.4(VHL):c.485G>T:p.Cys162Phe	coding	Pathogenic
3	10149809	C	A	C10149809A	VHL	NM_000551.3(VHL):c.486C>A:p.Cys162Ter	coding	Pathogenic
3	10149813	C	T	C10149813T	VHL	NM_000551.3(VHL):c.490C>T:p.Gln164Ter	coding	Pathogenic
3	10149814	A	G	A10149814G	VHL	NM_000551.3(VHL):c.491A>G:p.Gln164Arg	coding	Pathogenic/Likely_pathogenic
3	10149815	G	T	G10149815T	VHL	NM_000551.3(VHL):c.492G>T:p.Gln164His	coding	Pathogenic
3	10149819	G	T	G10149819T	VHL	NM_000551.3(VHL):c.496G>T:p.Val166Phe	coding	Pathogenic
3	10149820	T	A	T10149820A	VHL	NM_000551.3(VHL):c.497T>A:p.Val166Asp	coding	Pathogenic
3	10149820	T	C	T10149820C	VHL	NM_000551.4(VHL):c.497T>C:p.Val166Ala	coding	Pathogenic/Likely_pathogenic
3	10149822	C	G	C10149822G	VHL	NM_000551.3(VHL):c.499C>G:p.Arg167Gly	coding	Pathogenic/Likely_pathogenic
3	10149822	C	T	C10149822T	VHL	NM_000551.3(VHL):c.499C>T:p.Arg167Trp	coding	Pathogenic
3	10149823	G	C	G10149823C	VHL	NM_000551.3(VHL):c.500G>C:p.Arg167Pro	coding	Pathogenic/Likely_pathogenic
3	10149823	G	T	G10149823T	VHL	NM_000551.3(VHL):c.500G>T:p.Arg167Leu	coding	Pathogenic
3	10149832	T	A	T10149832A	VHL	NM_000551.3(VHL):c.509T>A:p.Val170Asp	coding	Pathogenic
3	10149840	G	T	G10149840T	VHL	NM_000551.4(VHL):c.517G>T:p.Glu173Ter	coding	Pathogenic
3	10149847	A	G	A10149847G	VHL	NM_000551.3(VHL):c.524A>G:p.Tyr175Cys	coding	Pathogenic/Likely_pathogenic
3	10149848	C	G	C10149848G	VHL	NM_000551.3(VHL):c.525C>G:p.Tyr175Ter	coding	Pathogenic
3	10149852	A	T	A10149852T	VHL	NM_000551.3(VHL):c.529A>T:p.Arg177Ter	coding	Pathogenic
3	10149856	T	A	T10149856A	VHL	NM_000551.3(VHL):c.533T>A:p.Leu178Gln	coding	Pathogenic
3	10149856	T	C	T10149856C	VHL	NM_000551.3(VHL):c.533T>C:p.Leu178Pro	coding	Pathogenic/Likely_pathogenic
3	10149856	T	G	T10149856G	VHL	NM_000551.3(VHL):c.533T>G:p.Leu178Arg	coding	Pathogenic
3	10149871	C	A	C10149871A	VHL	NM_000551.3(VHL):c.548C>A:p.Ser183Ter	coding	Pathogenic
3	10149874	T	C	T10149874C	VHL	NM_000551.3(VHL):c.551T>C:p.Leu184Pro	coding	Pathogenic/Likely_pathogenic
3	10149875	C	T	C10149875T	VHL	NM_000551.3(VHL):c.552C>T:p.Leu184=	coding	Benign/Likely_benign
3	10149878	C	G	C10149878G	VHL	NM_000551.3(VHL):c.555C>G:p.Tyr185Ter	coding	Pathogenic
3	10149906	C	T	C10149906T	VHL	NM_000551.3(VHL):c.583C>T:p.Gln195Ter	coding	Pathogenic
3	10149909	A	T	A10149909T	VHL	NM_000551.3(VHL):c.586A>T:p.Lys196Ter	coding	Pathogenic
3	10150035	C	T	C10150035T	VHL	NM_000551.4(VHL):c.*70C>T	noncoding	Benign
3	10150259	G	A	G10150259A	VHL	NM_000551.3(VHL):c.*294G>A	noncoding	Benign
3	10150268	A	T	A10150268T	VHL	NM_000551.3(VHL):c.*303A>T	noncoding	Benign
3	10150356	C	T	C10150356T	VHL	NM_000551.4(VHL):c.*391C>T	noncoding	Benign
3	10150539	T	C	T10150539C	VHL	NM_000551.3(VHL):c.*574T>C	noncoding	Benign
3	10150678	T	C	T10150678C	VHL	NM_000551.4(VHL):c.*713T>C	noncoding	Benign
3	10150683	T	C	T10150683C	VHL	NM_000551.4(VHL):c.*718T>C	noncoding	Benign
3	10150689	T	G	T10150689G	VHL	NM_000551.3(VHL):c.*724T>G	noncoding	Benign
3	10150785	A	G	A10150785G	VHL	NM_000551.3(VHL):c.*820A>G	noncoding	Benign
3	10151187	A	G	A10151187G	VHL	NM_000551.4(VHL):c.*1222A>G	noncoding	Benign
3	10151266	G	A	G10151266A	VHL	NM_000551.4(VHL):c.*1301G>A	noncoding	Benign
3	10151293	C	A	C10151293A	VHL	NM_000551.3(VHL):c.*1328C>A	noncoding	Benign
3	10151384	A	G	A10151384G	VHL	NM_000551.3(VHL):c.*1419A>G	noncoding	Benign
3	10151417	A	T	A10151417T	VHL	NM_000551.3(VHL):c.*1452A>T	noncoding	Benign
3	10151645	T	C	T10151645C	VHL	NM_000551.3(VHL):c.*1680T>C	noncoding	Benign
3	10151686	C	G	C10151686G	VHL	NM_000551.3(VHL):c.*1721C>G	noncoding	Benign
3	10151724	A	G	A10151724G	VHL	NM_000551.4(VHL):c.*1759A>G	noncoding	Benign
3	10151752	G	A	G10151752A	VHL	NM_000551.4(VHL):c.*1787G>A	noncoding	Benign
3	10152433	C	T	C10152433T	VHL	NM_000551.3(VHL):c.*2468C>T	noncoding	Benign
3	10153488	T	G	T10153488G	VHL	NM_000551.3(VHL):c.*3523T>G	noncoding	Benign
3	10153568	C	T	C10153568T	VHL	NM_000551.3(VHL):c.*3603C>T	noncoding	Benign
3	10153582	G	A	G10153582A	VHL	NM_000551.4(VHL):c.*3617G>A	noncoding	Benign
3	10338242	G	A	G10338242A	ATP2B2	NM_001001331.4(ATP2B2):c.3354C>T:p.His1118=	coding	Benign
3	10338266	G	A	G10338266A	ATP2B2	NM_001001331.4(ATP2B2):c.3330C>T:p.Asn1110=	coding	Benign
3	10338326	C	T	C10338326T	ATP2B2	NM_001001331.4(ATP2B2):c.3270G>A:p.Lys1090=	coding	Benign
3	10340604	C	T	C10340604T	ATP2B2	NM_001001331.4(ATP2B2):c.3018G>A:p.Gln1006=	coding	Benign
3	10340655	C	T	C10340655T	ATP2B2	NM_001001331.4(ATP2B2):c.2967G>A:p.Ser989=	coding	Benign
3	10359892	C	T	C10359892T	ATP2B2	NM_001001331.4(ATP2B2):c.1891G>A:p.Val631Met	coding	Benign
3	10371842	G	A	G10371842A	ATP2B2	NM_001001331.4(ATP2B2):c.1626C>T:p.Ile542=	coding	Benign
3	10375493	C	T	C10375493T	ATP2B2	NM_001001331.4(ATP2B2):c.1353G>A:p.Leu451=	coding	Benign
3	10379252	G	A	G10379252A	ATP2B2	NM_001001331.4(ATP2B2):c.1033C>T:p.Gln345Ter	coding	Pathogenic
3	10385333	G	C	G10385333C	ATP2B2	NM_001001331.4(ATP2B2):c.941-6C>G	noncoding	Benign
3	10402221	T	C	T10402221C	ATP2B2	NM_001001331.4(ATP2B2):c.525A>G:p.Lys175=	coding	Benign
3	10410682	C	A	C10410682A	ATP2B2	NM_001001331.4(ATP2B2):c.333G>T:p.Leu111=	coding	Benign
3	10449546	T	C	T10449546C	ATP2B2	NM_001001331.4(ATP2B2):c.-3A>G	noncoding	Benign
3	10874978	G	A	G10874978A	SLC6A11	NM_014229.3(SLC6A11):c.774G>A:p.Ala258=	coding	Benign
3	10875021	G	A	G10875021A	SLC6A11	NM_014229.3(SLC6A11):c.817G>A:p.Val273Ile	coding	Benign
3	10933240	C	T	C10933240T	SLC6A11	NM_014229.3(SLC6A11):c.1461C>T:p.Ile487=	coding	Benign
3	10934147	T	C	T10934147C	SLC6A11	NM_014229.3(SLC6A11):c.1556T>C:p.Met519Thr	coding	Benign
3	11017217	G	A	G11017217A	SLC6A1	NM_003042.4(SLC6A1):c.6G>A:p.Ala2=	coding	Benign/Likely_benign
3	11017341	C	T	C11017341T	SLC6A1	NM_003042.4(SLC6A1):c.130C>T:p.Arg44Trp	coding	Pathogenic/Likely_pathogenic
3	11017342	G	A	G11017342A	SLC6A1	NM_003042.4(SLC6A1):c.131G>A:p.Arg44Gln	coding	Pathogenic/Likely_pathogenic
3	11017349	G	A	G11017349A	SLC6A1	NM_003042.4(SLC6A1):c.138G>A:p.Thr46=	coding	Benign
3	11017366	A	T	A11017366T	SLC6A1;SLC6A1-AS1	NM_003042.4(SLC6A1):c.155A>T:p.Asp52Val	coding	Pathogenic
3	11017367	C	G	C11017367G	SLC6A1-AS1;SLC6A1	NM_003042.4(SLC6A1):c.156C>G:p.Asp52Glu	coding	Pathogenic
3	11017369	T	C	T11017369C	SLC6A1;SLC6A1-AS1	NM_003042.4(SLC6A1):c.158T>C:p.Phe53Ser	coding	Pathogenic
3	11017433	C	A	C11017433A	SLC6A1	NM_003042.4(SLC6A1):c.222C>A:p.Cys74Ter	coding	Pathogenic
3	11018631	G	A	G11018631A	SLC6A1	NM_003042.4(SLC6A1):c.404G>A:p.Trp135Ter	coding	Pathogenic
3	11018638	C	T	C11018638T	SLC6A1	NM_003042.4(SLC6A1):c.411C>T:p.Asn137=	coding	Benign
3	11018704	T	C	T11018704C	SLC6A1	NM_003042.4(SLC6A1):c.471+6T>C	noncoding	Benign
3	11020276	A	G	A11020276G	SLC6A1	NM_003042.4(SLC6A1):c.535A>G:p.Met179Val	coding	Benign
3	11022338	G	A	G11022338A	SLC6A1	NM_003042.4(SLC6A1):c.584G>A:p.Arg195His	coding	Benign
3	11022405	G	A	G11022405A	SLC6A1	NM_003042.4(SLC6A1):c.651G>A:p.Thr217=	coding	Benign/Likely_benign
3	11022405	G	T	G11022405T	SLC6A1	NM_003042.4(SLC6A1):c.651G>T:p.Thr217=	coding	Benign
3	11022414	C	A	C11022414A	SLC6A1	NM_003042.4(SLC6A1):c.660C>A:p.Ile220=	coding	Benign
3	11022458	G	A	G11022458A	SLC6A1	NM_003042.4(SLC6A1):c.704G>A:p.Trp235Ter	coding	Pathogenic
3	11025441	C	T	C11025441T	SLC6A1	NM_003042.4(SLC6A1):c.715-8C>T	noncoding	Benign
3	11025472	C	A	C11025472A	SLC6A1	NM_003042.4(SLC6A1):c.738C>A:p.Tyr246Ter	coding	Pathogenic
3	11025514	G	A	G11025514A	SLC6A1	NM_003042.4(SLC6A1):c.780G>A:p.Thr260=	coding	Benign
3	11025543	T	C	T11025543C	SLC6A1	NM_003042.4(SLC6A1):c.809T>C:p.Phe270Ser	coding	Pathogenic
3	11025564	G	A	G11025564A	SLC6A1	NM_003042.4(SLC6A1):c.830G>A:p.Arg277His	coding	Pathogenic
3	11025580	C	T	C11025580T	SLC6A1	NM_003042.4(SLC6A1):c.846C>T:p.Ser282=	coding	Benign
3	11025771	A	G	A11025771G	SLC6A1	NM_003042.4(SLC6A1):c.850-2A>G	noncoding	Pathogenic
3	11025786	C	T	C11025786T	SLC6A1	NM_003042.4(SLC6A1):c.863C>T:p.Ala288Val	coding	Pathogenic/Likely_pathogenic
3	11025808	A	T	A11025808T	SLC6A1	NM_003042.4(SLC6A1):c.885A>T:p.Ser295=	coding	Benign
3	11025812	G	A	G11025812A	SLC6A1	NM_003042.4(SLC6A1):c.889G>A:p.Gly297Arg	coding	Pathogenic/Likely_pathogenic
3	11025835	C	A	C11025835A	SLC6A1	NM_003042.4(SLC6A1):c.912C>A:p.Ile304=	coding	Benign
3	11025835	C	T	C11025835T	SLC6A1	NM_003042.4(SLC6A1):c.912C>T:p.Ile304=	coding	Benign/Likely_benign
3	11025842	G	A	G11025842A	SLC6A1	NM_003042.4(SLC6A1):c.919G>A:p.Gly307Arg	coding	Pathogenic/Likely_pathogenic
3	11026241	C	T	C11026241T	SLC6A1	NM_003042.4(SLC6A1):c.960C>T:p.Ser320=	coding	Benign
3	11026248	G	A	G11026248A	SLC6A1	NM_003042.4(SLC6A1):c.967G>A:p.Val323Ile	coding	Pathogenic
3	11026280	C	T	C11026280T	SLC6A1	NM_003042.4(SLC6A1):c.999C>T:p.Phe333=	coding	Benign/Likely_benign
3	11026281	G	C	G11026281C	SLC6A1	NM_003042.4(SLC6A1):c.1000G>C:p.Ala334Pro	coding	Pathogenic
3	11026283	A	G	A11026283G	SLC6A1	NM_003042.4(SLC6A1):c.1002A>G:p.Ala334=	coding	Benign
3	11026305	G	A	G11026305A	SLC6A1	NM_003042.4(SLC6A1):c.1024G>A:p.Val342Met	coding	Pathogenic
3	11026351	C	T	C11026351T	SLC6A1	NM_003042.4(SLC6A1):c.1070C>T:p.Ala357Val	coding	Pathogenic
3	11028845	C	T	C11028845T	SLC6A1	NM_003042.4(SLC6A1):c.1189C>T:p.Gln397Ter	coding	Pathogenic
3	11029220	G	A	G11029220A	SLC6A1	NM_003042.4(SLC6A1):c.1192-1G>A	noncoding	Pathogenic
3	11029272	C	A	C11029272A	SLC6A1	NM_003042.4(SLC6A1):c.1243C>A:p.Leu415Ile	coding	Benign/Likely_benign
3	11029304	T	G	T11029304G	SLC6A1	NM_003042.4(SLC6A1):c.1275T>G:p.Ala425=	coding	Benign/Likely_benign
3	11031230	C	G	C11031230G	SLC6A1	NM_003042.4(SLC6A1):c.1377C>G:p.Ser459Arg	coding	Pathogenic
3	11033647	C	A	C11033647A	SLC6A1	NM_003042.4(SLC6A1):c.1435C>A:p.Arg479=	coding	Benign
3	11033647	C	T	C11033647T	SLC6A1	NM_003042.4(SLC6A1):c.1435C>T:p.Arg479Ter	coding	Pathogenic
3	11033712	G	A	G11033712A	SLC6A1	NM_003042.4(SLC6A1):c.1500G>A:p.Trp500Ter	coding	Pathogenic
3	11034598	G	A	G11034598A	SLC6A1	NM_003042.4(SLC6A1):c.1595G>A:p.Trp532Ter	coding	Pathogenic
3	11034603	C	T	C11034603T	SLC6A1	NM_003042.4(SLC6A1):c.1600C>T:p.Gln534Ter	coding	Pathogenic
3	11034650	C	T	C11034650T	SLC6A1	NM_003042.4(SLC6A1):c.1647C>T:p.Pro549=	coding	Benign
3	11034651	G	A	G11034651A	SLC6A1	NM_003042.4(SLC6A1):c.1648G>A:p.Gly550Arg	coding	Pathogenic/Likely_pathogenic
3	11036898	G	A	G11036898A	SLC6A1	NM_003042.4(SLC6A1):c.1732G>A:p.Val578Ile	coding	Benign
3	11036913	G	C	G11036913C	SLC6A1	NM_003042.4(SLC6A1):c.1747G>C:p.Gly583Arg	coding	Benign
3	11259079	G	A	G11259079A	HRH1	NM_001098212.2(HRH1):c.42G>A:p.Met14Ile	coding	Benign
3	11259094	G	C	G11259094C	HRH1	NM_001098212.2(HRH1):c.57G>C:p.Lys19Asn	coding	Benign
3	11260014	G	A	G11260014A	HRH1	NM_001098212.2(HRH1):c.977G>A:p.Arg326Gln	coding	Benign
3	11260082	G	C	G11260082C	HRH1	NM_001098212.2(HRH1):c.1045G>C:p.Asp349His	coding	Benign
3	11331420	C	T	C11331420T	ATG7	NM_006395.3(ATG7):c.759C>T:p.Ala253=	coding	Benign
3	11340637	G	T	G11340637T	ATG7	NM_006395.3(ATG7):c.890-8G>T	noncoding	Benign
3	11340638	C	T	C11340638T	ATG7	NM_006395.3(ATG7):c.890-7C>T	noncoding	Benign
3	11340731	A	C	A11340731C	ATG7	NM_006395.3(ATG7):c.976A>C:p.Lys326Gln	coding	Benign
3	11364686	C	T	C11364686T	ATG7	NM_006395.3(ATG7):c.1827C>T:p.Asp609=	coding	Benign
3	12158778	C	T	C12158778T	TIMP4	NM_003256.4(TIMP4):c.63G>A:p.Leu21=	coding	Benign
3	12351571	C	T	C12351571T	PPARG	NM_015869.4(PPARG):c.-22C>T	noncoding	Benign/Likely_benign
3	12381349	C	A	C12381349A	PPARG	NM_001354669.1(PPARG):c.-180C>A	coding	Pathogenic
3	12392701	T	A	T12392701A	PPARG	NM_005037.5(PPARG):c.484T>A:p.Cys162Ser	coding	Pathogenic
3	12392713	C	T	C12392713T	PPARG	NM_005037.5(PPARG):c.496C>T:p.Arg166Trp	coding	Pathogenic
3	12416775	C	G	C12416775G	PPARG	NM_015869.4(PPARG):c.891C>G:p.Pro297=	coding	Benign
3	12416825	A	C	A12416825C	PPARG	NM_001330615.1(PPARG):c.735+10744A>C	coding	Pathogenic
3	12416831	G	A	G12416831A	PPARG	NM_001330615.1(PPARG):c.735+10750G>A	coding	Pathogenic
3	12416836	G	A	G12416836A	PPARG	NM_001330615.1(PPARG):c.735+10755G>A	coding	Pathogenic
3	12416868	C	A	C12416868A	PPARG	NM_015869.5(PPARG):c.984C>A:p.Ala328=	coding	Benign
3	12416923	A	T	A12416923T	PPARG	NM_001330615.1(PPARG):c.735+10842A>T	coding	Pathogenic
3	12416937	C	T	C12416937T	PPARG	NM_015869.5(PPARG):c.1053C>T:p.His351=	coding	Benign
3	12417048	T	A	T12417048A	PPARG	NM_001330615.1(PPARG):c.735+10967T>A	coding	Pathogenic
3	12433900	C	T	C12433900T	PPARG	NM_005037.5(PPARG):c.1189C>T:p.Arg397Cys	coding	Pathogenic
3	12433998	A	G	A12433998G	PPARG	NM_015869.4(PPARG):c.1371A>G:p.Ser457=	coding	Benign/Likely_benign
3	12434052	G	A	G12434052A	PPARG	NM_015869.5(PPARG):c.1425G>A:p.Thr475=	coding	Benign
3	12434079	C	T	C12434079T	PPARG	NM_015869.4(PPARG):c.1452C>T:p.Ile484=	coding	Benign/Likely_benign
3	12484678	G	A	G12484678A	TSEN2	NM_025265.4(TSEN2):c.-220G>A	noncoding	Benign
3	12484689	G	T	G12484689T	TSEN2	NM_025265.4(TSEN2):c.-209G>T	noncoding	Benign
3	12484699	G	T	G12484699T	TSEN2	NM_025265.4(TSEN2):c.-199G>T	noncoding	Benign
3	12489866	A	C	A12489866C	TSEN2	NM_025265.4(TSEN2):c.66A>C:p.Pro22=	coding	Benign/Likely_benign
3	12489908	A	G	A12489908G	TSEN2	NM_025265.4(TSEN2):c.108A>G:p.Glu36=	coding	Benign
3	12489922	G	A	G12489922A	TSEN2	NM_025265.4(TSEN2):c.122G>A:p.Arg41His	coding	Benign
3	12489922	G	C	G12489922C	TSEN2	NM_025265.4(TSEN2):c.122G>C:p.Arg41Pro	coding	Benign
3	12489922	G	T	G12489922T	TSEN2	NM_025265.4(TSEN2):c.122G>T:p.Arg41Leu	coding	Benign
3	12489962	G	A	G12489962A	TSEN2	NM_025265.4(TSEN2):c.162G>A:p.Ala54=	coding	Benign
3	12489962	G	C	G12489962C	TSEN2	NM_025265.4(TSEN2):c.162G>C:p.Ala54=	coding	Benign
3	12491836	A	C	A12491836C	TSEN2	NM_025265.4(TSEN2):c.190-300A>C	noncoding	Benign
3	12496514	C	G	C12496514G	TSEN2	NM_025265.4(TSEN2):c.272-4C>G	noncoding	Benign/Likely_benign
3	12503280	G	A	G12503280A	TSEN2	NM_025265.4(TSEN2):c.327G>A:p.Glu109=	coding	Benign
3	12503330	G	A	G12503330A	TSEN2	NM_025265.4(TSEN2):c.377G>A:p.Arg126His	coding	Benign
3	12503342	A	C	A12503342C	TSEN2	NM_025265.4(TSEN2):c.389A>C:p.Lys130Thr	coding	Benign/Likely_benign
3	12503358	G	A	G12503358A	TSEN2	NM_025265.4(TSEN2):c.405G>A:p.Pro135=	coding	Benign/Likely_benign
3	12503592	T	C	T12503592C	TSEN2	NM_025265.4(TSEN2):c.639T>C:p.Asp213=	coding	Benign
3	12503644	C	T	C12503644T	TSEN2	NM_025265.4(TSEN2):c.691C>T:p.Gln231Ter	coding	Pathogenic
3	12505192	A	G	A12505192G	TSEN2	NM_025265.4(TSEN2):c.870A>G:p.Pro290=	coding	Benign/Likely_benign
3	12516627	A	G	A12516627G	TSEN2	NM_025265.4(TSEN2):c.926A>G:p.Tyr309Cys	coding	Pathogenic
3	12516635	G	A	G12516635A	TSEN2	NM_025265.4(TSEN2):c.934G>A:p.Gly312Arg	coding	Pathogenic
3	12519061	G	A	G12519061A	TSEN2	NM_025265.4(TSEN2):c.963G>A:p.Glu321=	coding	Benign
3	12529487	T	C	T12529487C	TSEN2	NM_025265.4(TSEN2):c.1137-275T>C	noncoding	Benign
3	12531837	A	G	A12531837G	TSEN2	NM_025265.4(TSEN2):c.1338+178A>G	noncoding	Benign
3	12532499	T	C	T12532499C	TSEN2	NM_025265.4(TSEN2):c.1339-163T>C	noncoding	Benign
3	12532673	G	A	G12532673A	TSEN2	NM_025265.4(TSEN2):c.1350G>A:p.Leu450=	coding	Benign
3	12532799	G	A	G12532799A	TSEN2	NM_025265.4(TSEN2):c.*78G>A	noncoding	Benign
3	12533013	G	T	G12533013T	TSEN2	NM_025265.4(TSEN2):c.*292G>T	noncoding	Benign
3	12583908	T	C	T12583908C	RAF1	NM_001354689.3(RAF1):c.*606A>G	noncoding	Benign/Likely_benign
3	12583958	C	T	C12583958T	RAF1	NM_001354689.3(RAF1):c.*556G>A	noncoding	Benign/Likely_benign
3	12584019	G	A	G12584019A	RAF1	NM_001354689.3(RAF1):c.*495C>T	noncoding	Benign/Likely_benign
3	12584110	C	T	C12584110T	RAF1	NM_001354689.3(RAF1):c.*404G>A	noncoding	Benign/Likely_benign
3	12584166	A	G	A12584166G	RAF1	NM_001354689.3(RAF1):c.*348T>C	noncoding	Benign
3	12584248	G	A	G12584248A	RAF1	NM_001354689.3(RAF1):c.*266C>T	noncoding	Benign
3	12584354	G	A	G12584354A	RAF1	NM_001354689.3(RAF1):c.*160C>T	noncoding	Benign/Likely_benign
3	12584404	A	G	A12584404G	RAF1	NM_001354689.3(RAF1):c.*110T>C	noncoding	Benign/Likely_benign
3	12584431	G	A	G12584431A	RAF1	NM_001354689.3(RAF1):c.*83C>T	noncoding	Benign
3	12584520	G	A	G12584520A	RAF1	NM_001354689.3(RAF1):c.2001C>T:p.Val667=	coding	Benign
3	12584539	G	A	G12584539A	RAF1	NM_001354689.3(RAF1):c.1982C>T:p.Thr661Met	coding	Pathogenic
3	12584547	C	T	C12584547T	RAF1	NM_001354689.3(RAF1):c.1974G>A:p.Thr658=	coding	Benign
3	12584624	G	C	G12584624C	RAF1	NM_001354689.3(RAF1):c.1897C>G:p.Leu633Val	coding	Pathogenic
3	12584631	T	C	T12584631C	RAF1	NM_001354689.3(RAF1):c.1890A>G:p.Gln630=	coding	Benign
3	12584653	A	G	A12584653G	RAF1	NM_001354689.3(RAF1):c.1868T>C:p.Leu623Pro	coding	Pathogenic
3	12584895	T	C	T12584895C	RAF1	NM_001354689.3(RAF1):c.1815A>G:p.Val605=	coding	Benign
3	12584994	A	G	A12584994G	RAF1	NM_001354689.3(RAF1):c.1729-13T>C	noncoding	Benign
3	12585017	G	A	G12585017A	RAF1	NM_001354689.3(RAF1):c.1729-36C>T	noncoding	Benign
3	12585103	C	A	C12585103A	RAF1	NM_001354689.3(RAF1):c.1728+19G>T	noncoding	Benign
3	12585118	T	C	T12585118C	RAF1	NM_001354689.3(RAF1):c.1728+4A>G	noncoding	Benign
3	12585161	C	G	C12585161G	RAF1	NM_001354689.3(RAF1):c.1689G>C:p.Thr563=	coding	Benign
3	12585161	C	T	C12585161T	RAF1	NM_001354689.3(RAF1):c.1689G>A:p.Thr563=	coding	Benign
3	12585203	C	T	C12585203T	RAF1	NM_001354689.3(RAF1):c.1647G>A:p.Ser549=	coding	Benign
3	12585264	C	T	C12585264T	RAF1	NM_001354689.3(RAF1):c.1597-11G>A	noncoding	Benign
3	12585745	G	A	G12585745A	RAF1	NM_001354689.3(RAF1):c.1532C>T:p.Thr511Ile	coding	Pathogenic
3	12585760	T	C	T12585760C	RAF1	NM_001354689.3(RAF1):c.1517A>G:p.Asp506Gly	coding	Pathogenic/Likely_pathogenic
3	12585761	C	T	C12585761T	RAF1	NM_001354689.3(RAF1):c.1516G>A:p.Asp506Asn	coding	Pathogenic
3	12585794	A	G	A12585794G	RAF1	NM_001354689.3(RAF1):c.1483T>C:p.Phe495Leu	coding	Pathogenic/Likely_pathogenic
3	12586041	G	A	G12586041A	RAF1	NM_001354689.3(RAF1):c.1478-242C>T	noncoding	Benign
3	12587421	G	C	G12587421C	RAF1	NM_001354689.3(RAF1):c.1477+170C>G	noncoding	Benign
3	12590889	T	C	T12590889C	RAF1	NM_001354689.3(RAF1):c.1339A>G:p.Ser447Gly	coding	Pathogenic
3	12591153	G	C	G12591153C	RAF1	NM_001354689.3(RAF1):c.1254-179C>G	noncoding	Benign
3	12591584	A	G	A12591584G	RAF1	NM_001354689.3(RAF1):c.1253+124T>C	noncoding	Benign
3	12591669	A	G	A12591669G	RAF1	NM_001354689.3(RAF1):c.1253+39T>C	noncoding	Benign
3	12591690	C	G	C12591690G	RAF1	NM_001354689.3(RAF1):c.1253+18G>C	noncoding	Benign
3	12591760	C	T	C12591760T	RAF1	NM_001354689.3(RAF1):c.1201G>A:p.Asp401Asn	coding	Benign
3	12592053	T	C	T12592053C	RAF1	NM_001354689.3(RAF1):c.1169-261A>G	noncoding	Benign
3	12599717	C	G	C12599717G	RAF1	NM_001354689.3(RAF1):c.1142G>C:p.Gly381Ala	coding	Pathogenic
3	12600019	A	G	A12600019G	RAF1	NM_001354689.3(RAF1):c.1050+133T>C	noncoding	Benign
3	12600219	G	A	G12600219A	RAF1	NM_001354689.3(RAF1):c.983C>T:p.Pro328Leu	coding	Benign
3	12604182	A	G	A12604182G	RAF1	NM_001354689.3(RAF1):c.788T>C:p.Val263Ala	coding	Pathogenic
3	12604182	A	T	A12604182T	RAF1	NM_001354689.3(RAF1):c.788T>A:p.Val263Asp	coding	Pathogenic/Likely_pathogenic
3	12604184	A	T	A12604184T	RAF1	NM_001354689.3(RAF1):c.786T>A:p.Asn262Lys	coding	Pathogenic
3	12604188	G	A	G12604188A	RAF1	NM_001354689.3(RAF1):c.782C>T:p.Pro261Leu	coding	Pathogenic
3	12604188	G	C	G12604188C	RAF1	NM_001354689.3(RAF1):c.782C>G:p.Pro261Arg	coding	Pathogenic/Likely_pathogenic
3	12604189	G	A	G12604189A	RAF1	NM_001354689.3(RAF1):c.781C>T:p.Pro261Ser	coding	Pathogenic
3	12604189	G	C	G12604189C	RAF1	NM_001354689.3(RAF1):c.781C>G:p.Pro261Ala	coding	Pathogenic/Likely_pathogenic
3	12604189	G	T	G12604189T	RAF1	NM_001354689.3(RAF1):c.781C>A:p.Pro261Thr	coding	Pathogenic
3	12604194	G	A	G12604194A	RAF1	NM_001354689.3(RAF1):c.776C>T:p.Ser259Phe	coding	Pathogenic
3	12604194	G	C	G12604194C	RAF1	NM_001354689.3(RAF1):c.776C>G:p.Ser259Cys	coding	Pathogenic/Likely_pathogenic
3	12604194	G	T	G12604194T	RAF1	NM_001354689.3(RAF1):c.776C>A:p.Ser259Tyr	coding	Pathogenic
3	12604195	A	C	A12604195C	RAF1	NM_001354689.3(RAF1):c.775T>G:p.Ser259Ala	coding	Pathogenic
3	12604195	A	T	A12604195T	RAF1	NM_001354689.3(RAF1):c.775T>A:p.Ser259Thr	coding	Pathogenic
3	12604200	G	A	G12604200A	RAF1	NM_001354689.3(RAF1):c.770C>T:p.Ser257Leu	coding	Pathogenic
3	12604202	C	A	C12604202A	RAF1	NM_001354689.3(RAF1):c.768G>T:p.Arg256Ser	coding	Pathogenic
3	12604204	T	C	T12604204C	RAF1	NM_001354689.3(RAF1):c.766A>G:p.Arg256Gly	coding	Pathogenic/Likely_pathogenic
3	12604261	C	T	C12604261T	RAF1	NM_001354689.3(RAF1):c.709G>A:p.Ala237Thr	coding	Pathogenic
3	12604501	T	C	T12604501C	RAF1	NM_001354689.3(RAF1):c.681-212A>G	noncoding	Benign
3	12605958	A	G	A12605958G	RAF1	NM_001354689.3(RAF1):c.680+243T>C	noncoding	Benign
3	12605959	A	T	A12605959T	RAF1	NM_001354689.3(RAF1):c.680+242T>A	noncoding	Benign
3	12606242	A	G	A12606242G	RAF1	NM_001354689.3(RAF1):c.639T>C:p.Thr213=	coding	Benign
3	12608504	T	G	T12608504G	RAF1	NM_001354689.3(RAF1):c.581+262A>C	noncoding	Benign
3	12608777	G	A	G12608777A	RAF1	NM_001354689.3(RAF1):c.570C>T:p.Ile190=	coding	Benign/Likely_benign
3	12608842	C	G	C12608842G	RAF1	NM_001354689.3(RAF1):c.505G>C:p.Gly169Arg	coding	Pathogenic/Likely_pathogenic
3	12609349	A	T	A12609349T	RAF1	NM_001354689.3(RAF1):c.321-14T>A	noncoding	Benign/Likely_benign
3	12611931	T	C	T12611931C	RAF1	NM_001354689.3(RAF1):c.320+19A>G	noncoding	Benign
3	12612058	T	C	T12612058C	RAF1	NM_001354689.3(RAF1):c.212A>G:p.Asn71Ser	coding	Benign
3	12612079	A	G	A12612079G	RAF1	NM_001354689.3(RAF1):c.208-17T>C	noncoding	Benign
3	12612301	A	G	A12612301G	RAF1	NM_001354689.3(RAF1):c.208-239T>C	noncoding	Benign
3	12618603	C	T	C12618603T	RAF1	NM_001354689.3(RAF1):c.119G>A:p.Arg40His	coding	Benign
3	12618628	T	C	T12618628C	RAF1	NM_001354689.3(RAF1):c.94A>G:p.Ile32Val	coding	Benign
3	12618967	G	C	G12618967C	RAF1	NM_001354689.3(RAF1):c.-26-220C>G	noncoding	Benign
3	12663990	C	G	C12663990G	RAF1	NM_001354689.3(RAF1):c.-204G>C	noncoding	Benign
3	12664053	C	T	C12664053T	RAF1	NM_001354689.3(RAF1):c.-267G>A	noncoding	Benign
3	12664067	G	C	G12664067C	RAF1	NM_001354689.3(RAF1):c.-281C>G	noncoding	Benign
3	12664202	G	C	G12664202C	RAF1	NM_002880.3(RAF1):c.-415-1C>G	noncoding	Benign/Likely_benign
3	12816405	C	T	C12816405T	CAND2	NM_001162499.2(CAND2):c.1473C>T:p.Ser491=	coding	Benign
3	12817058	A	G	A12817058G	CAND2	NM_001162499.2(CAND2):c.2126A>G:p.His709Arg	coding	Benign
3	12820101	G	A	G12820101A	CAND2	NM_001162499.2(CAND2):c.2960G>A:p.Arg987Gln	coding	Benign
3	12825511	C	T	C12825511T	CAND2	NM_001162499.2(CAND2):c.3082C>T:p.Arg1028Cys	coding	Benign
3	12831496	C	T	C12831496T	CAND2	NM_001162499.2(CAND2):c.3407C>T:p.Ala1136Val	coding	Benign
3	12901078	C	T	C12901078T	IQSEC1	NM_001134382.3(IQSEC1):c.3250G>A:p.Val1084Met	coding	Benign
3	12901126	C	T	C12901126T	IQSEC1	NM_001134382.3(IQSEC1):c.3202G>A:p.Ala1068Thr	coding	Benign
3	12901211	C	T	C12901211T	IQSEC1	NM_001134382.3(IQSEC1):c.3117G>A:p.Pro1039=	coding	Benign
3	12901261	C	G	C12901261G	IQSEC1	NM_001134382.3(IQSEC1):c.3067G>C:p.Ala1023Pro	coding	Benign
3	12901289	C	T	C12901289T	IQSEC1	NM_001134382.3(IQSEC1):c.3039G>A:p.Leu1013=	coding	Benign
3	12935489	G	A	G12935489A	IQSEC1	NM_001134382.3(IQSEC1):c.1527C>T:p.Ile509=	coding	Benign
3	12935588	C	T	C12935588T	IQSEC1	NM_001134382.3(IQSEC1):c.1428G>A:p.Ser476=	coding	Benign
3	12935870	C	T	C12935870T	IQSEC1	NM_001134382.3(IQSEC1):c.1146G>A:p.Ser382=	coding	Benign
3	12935988	G	A	G12935988A	IQSEC1	NM_001134382.3(IQSEC1):c.1028C>T:p.Thr343Met	coding	Pathogenic
3	12936054	C	T	C12936054T	IQSEC1	NM_001134382.3(IQSEC1):c.962G>A:p.Arg321Gln	coding	Pathogenic
3	12936210	G	A	G12936210A	IQSEC1	NM_001134382.3(IQSEC1):c.806C>T:p.Thr269Ile	coding	Benign
3	12936221	G	A	G12936221A	IQSEC1	NM_001134382.3(IQSEC1):c.795C>T:p.Thr265=	coding	Benign
3	12936398	G	C	G12936398C	IQSEC1	NM_001134382.3(IQSEC1):c.618C>G:p.Pro206=	coding	Benign
3	12941715	C	A	C12941715A	IQSEC1	NM_001134382.3(IQSEC1):c.174G>T:p.Pro58=	coding	Benign
3	13321672	G	A	G13321672A	NUP210	NM_024923.4(NUP210):c.5079C>T:p.Ala1693=	coding	Benign
3	13339919	C	T	C13339919T	NUP210	NM_024923.4(NUP210):c.3406G>A:p.Gly1136Ser	coding	Benign
3	13343248	A	G	A13343248G	NUP210	NM_024923.4(NUP210):c.2891T>C:p.Val964Ala	coding	Benign
3	13570526	G	A	G13570526A	FBLN2	NM_001004019.2(FBLN2):c.171G>A:p.Thr57=	coding	Benign
3	13571286	G	A	G13571286A	FBLN2	NM_001004019.2(FBLN2):c.931G>A:p.Ala311Thr	coding	Benign
3	13619797	C	T	C13619797T	FBLN2	NM_001004019.2(FBLN2):c.2121C>T:p.Gly707=	coding	Benign
3	13628993	C	A	C13628993A	FBLN2	NM_001004019.2(FBLN2):c.2658C>A:p.Asn886Lys	coding	Benign
3	13637649	G	A	G13637649A	FBLN2	NM_001004019.2(FBLN2):c.3426G>A:p.Thr1142=	coding	Benign
3	13819120	G	A	G13819120A	WNT7A	NM_004625.4(WNT7A):c.874C>T:p.Arg292Cys	coding	Pathogenic
3	13819313	C	T	C13819313T	WNT7A	NM_004625.4(WNT7A):c.681G>A:p.Val227=	coding	Benign
3	13819330	G	A	G13819330A	WNT7A	NM_004625.4(WNT7A):c.664C>T:p.Arg222Trp	coding	Pathogenic
3	13819370	C	T	C13819370T	WNT7A	NM_004625.4(WNT7A):c.624G>A:p.Ser208=	coding	Benign
3	13819384	C	T	C13819384T	WNT7A	NM_004625.4(WNT7A):c.610G>A:p.Gly204Ser	coding	Pathogenic/Likely_pathogenic
3	13854703	G	A	G13854703A	WNT7A	NM_004625.4(WNT7A):c.399C>T:p.Cys133=	coding	Benign/Likely_benign
3	13854715	G	A	G13854715A	WNT7A	NM_004625.4(WNT7A):c.387C>T:p.Ser129=	coding	Benign
3	13854777	C	T	C13854777T	WNT7A	NM_004625.4(WNT7A):c.325G>A:p.Ala109Thr	coding	Pathogenic
3	13854798	G	A	G13854798A	WNT7A	NM_004625.4(WNT7A):c.304C>T:p.Arg102Trp	coding	Pathogenic
3	13875031	C	T	C13875031T	WNT7A	NM_004625.4(WNT7A):c.214G>A:p.Glu72Lys	coding	Pathogenic
3	13875170	G	A	G13875170A	WNT7A	NM_004625.4(WNT7A):c.75C>T:p.Gly25=	coding	Benign/Likely_benign
3	13875183	G	A	G13875183A	WNT7A	NM_004625.4(WNT7A):c.72-10C>T	noncoding	Benign
3	13879757	G	A	G13879757A	WNT7A	NM_004625.4(WNT7A):c.60C>T:p.Tyr20=	coding	Benign
3	14113201	C	T	C14113201T	CHCHD4	NM_001098502.2(CHCHD4):c.122-7G>A	noncoding	Benign
3	14124780	C	T	C14124780T	TMEM43	NM_001098502.2(CHCHD4):c.-104G>A	noncoding	Benign
3	14124894	T	C	T14124894C	TMEM43	NM_024334.2(TMEM43):c.-300T>C	noncoding	Benign
3	14125191	A	T	A14125191T	TMEM43	NM_024334.2(TMEM43):c.-3A>T	noncoding	Benign/Likely_benign
3	14125335	C	T	C14125335T	TMEM43	NM_024334.2(TMEM43):c.12+130C>T	noncoding	Benign
3	14125372	C	T	C14125372T	TMEM43	NM_024334.2(TMEM43):c.12+167C>T	noncoding	Benign
3	14129444	C	A	C14129444A	TMEM43	NM_024334.3(TMEM43):c.45C>A:p.Val15=	coding	Benign/Likely_benign
3	14129481	C	T	C14129481T	TMEM43	NM_024334.3(TMEM43):c.82C>T:p.Arg28Trp	coding	Benign/Likely_benign
3	14129708	C	T	C14129708T	TMEM43	NM_024334.2(TMEM43):c.162+147C>T	noncoding	Benign
3	14130575	C	T	C14130575T	TMEM43	NM_024334.2(TMEM43):c.163-247C>T	noncoding	Benign
3	14130808	C	T	C14130808T	TMEM43	NM_024334.3(TMEM43):c.163-14C>T	noncoding	Benign
3	14130816	T	A	T14130816A	TMEM43	NM_024334.2(TMEM43):c.163-6T>A	noncoding	Benign
3	14130881	C	T	C14130881T	TMEM43	NM_024334.3(TMEM43):c.222C>T:p.Pro74=	coding	Benign/Likely_benign
3	14130905	G	A	G14130905A	TMEM43	NM_024334.2(TMEM43):c.246G>A:p.Pro82=	coding	Benign/Likely_benign
3	14130912	G	A	G14130912A	TMEM43	NM_024334.2(TMEM43):c.253G>A:p.Glu85Lys	coding	Pathogenic
3	14130938	C	T	C14130938T	TMEM43	NM_024334.2(TMEM43):c.279C>T:p.Gly93=	coding	Benign/Likely_benign
3	14131327	C	T	C14131327T	TMEM43	NM_024334.2(TMEM43):c.298-253C>T	noncoding	Benign
3	14131474	C	T	C14131474T	TMEM43	NM_024334.2(TMEM43):c.298-106C>T	noncoding	Benign
3	14131690	G	A	G14131690A	TMEM43	NM_024334.2(TMEM43):c.392+16G>A	noncoding	Benign
3	14131795	C	G	C14131795G	TMEM43	NM_024334.2(TMEM43):c.392+121C>G	noncoding	Benign
3	14132463	G	T	G14132463T	TMEM43	NM_024334.2(TMEM43):c.393-83G>T	noncoding	Benign
3	14132555	C	T	C14132555T	TMEM43	NM_024334.3(TMEM43):c.402C>T:p.Thr134=	coding	Benign/Likely_benign
3	14132646	T	C	T14132646C	TMEM43	NM_024334.2(TMEM43):c.442+51T>C	noncoding	Benign
3	14132857	C	T	C14132857T	TMEM43	NM_024334.2(TMEM43):c.443-9C>T	noncoding	Benign
3	14132927	A	T	A14132927T	TMEM43	NM_024334.3(TMEM43):c.504A>T:p.Lys168Asn	coding	Benign
3	14132954	G	T	G14132954T	TMEM43	NM_024334.2(TMEM43):c.512+19G>T	noncoding	Benign
3	14133742	C	T	C14133742T	TMEM43	NM_024334.2(TMEM43):c.516C>T:p.Ala172=	coding	Benign
3	14133762	T	C	T14133762C	TMEM43	NM_024334.3(TMEM43):c.536T>C:p.Met179Thr	coding	Benign
3	14133805	G	A	G14133805A	TMEM43	NM_024334.2(TMEM43):c.579G>A:p.Ser193=	coding	Benign/Likely_benign
3	14134884	A	G	A14134884G	TMEM43	NM_024334.3(TMEM43):c.698A>G:p.Tyr233Cys	coding	Benign
3	14134898	G	A	G14134898A	TMEM43	NM_024334.3(TMEM43):c.705+7G>A	noncoding	Benign/Likely_benign
3	14134946	G	A	G14134946A	TMEM43	NM_024334.2(TMEM43):c.705+55G>A	noncoding	Benign
3	14135229	C	T	C14135229T	TMEM43	NM_024334.2(TMEM43):c.777C>T:p.His259=	coding	Benign/Likely_benign
3	14135248	A	G	A14135248G	TMEM43	NM_024334.2(TMEM43):c.780+16A>G	noncoding	Benign
3	14135529	A	G	A14135529G	TMEM43	NM_024334.2(TMEM43):c.781-278A>G	noncoding	Benign
3	14135694	T	C	T14135694C	TMEM43	NM_024334.2(TMEM43):c.781-113T>C	noncoding	Benign
3	14135824	G	A	G14135824A	TMEM43	NM_024334.2(TMEM43):c.798G>A:p.Arg266=	coding	Benign/Likely_benign
3	14135855	A	T	A14135855T	TMEM43	NM_024334.3(TMEM43):c.829A>T:p.Thr277Ser	coding	Benign/Likely_benign
3	14135890	C	T	C14135890T	TMEM43	NM_024334.2(TMEM43):c.864C>T:p.His288=	coding	Benign/Likely_benign
3	14136244	A	C	A14136244C	TMEM43	NM_024334.2(TMEM43):c.882+336A>C	noncoding	Benign
3	14139052	A	G	A14139052G	TMEM43	NM_024334.2(TMEM43):c.883-128A>G	noncoding	Benign
3	14139133	C	T	C14139133T	TMEM43	NM_024334.2(TMEM43):c.883-47C>T	noncoding	Benign
3	14139193	G	C	G14139193C	TMEM43	NM_024334.2(TMEM43):c.896G>C:p.Arg299Thr	coding	Benign/Likely_benign
3	14139206	C	T	C14139206T	TMEM43	NM_024334.3(TMEM43):c.909C>T:p.Ser303=	coding	Benign
3	14139218	G	A	G14139218A	TMEM43	NM_024334.3(TMEM43):c.921G>A:p.Lys307=	coding	Benign
3	14139231	C	T	C14139231T	TMEM43	NM_024334.3(TMEM43):c.934C>T:p.Arg312Trp	coding	Benign/Likely_benign
3	14139250	C	T	C14139250T	TMEM43	NM_024334.3(TMEM43):c.953C>T:p.Ala318Val	coding	Benign/Likely_benign
3	14139558	G	A	G14139558A	TMEM43	NM_024334.2(TMEM43):c.1000+261G>A	noncoding	Benign
3	14141552	G	A	G14141552A	TMEM43	NM_024334.2(TMEM43):c.1001-41G>A	noncoding	Benign
3	14141665	C	T	C14141665T	TMEM43	NM_024334.3(TMEM43):c.1073C>T:p.Ser358Leu	coding	Pathogenic
3	14141688	G	A	G14141688A	TMEM43	NM_024334.3(TMEM43):c.1096G>A:p.Ala366Thr	coding	Benign
3	14141910	T	C	T14141910C	XPC;TMEM43	NM_024334.2(TMEM43):c.*115T>C	noncoding	Benign/Likely_benign
3	14142514	G	T	G14142514T	XPC;TMEM43	NM_024334.2(TMEM43):c.*719G>T	noncoding	Benign/Likely_benign
3	14145257	C	G	C14145257G	XPC;TMEM43	NM_004628.5(XPC):c.*684G>C	noncoding	Benign/Likely_benign
3	14145323	T	C	T14145323C	XPC;TMEM43	NM_004628.5(XPC):c.*618A>G	noncoding	Benign/Likely_benign
3	14145330	A	T	A14145330T	XPC;TMEM43	NM_004628.5(XPC):c.*611T>A	noncoding	Benign/Likely_benign
3	14145845	G	C	G14145845C	XPC;TMEM43	NM_004628.5(XPC):c.*96C>G	noncoding	Benign/Likely_benign
3	14145982	T	G	T14145982G	XPC	NM_004628.5(XPC):c.2782A>C:p.Lys928Gln	coding	Benign/Likely_benign
3	14146199	T	C	T14146199C	XPC	NM_004628.4(XPC):c.2605-40A>G	noncoding	Benign
3	14147262	G	C	G14147262C	XPC	NM_004628.4(XPC):c.2604+28C>G	noncoding	Benign
3	14147299	G	A	G14147299A	XPC	NM_004628.5(XPC):c.2595C>T:p.Tyr865=	coding	Benign
3	14148012	A	G	A14148012G	XPC;TMEM43	NM_004628.4(XPC):c.2421-11T>C	noncoding	Benign/Likely_benign
3	14148732	C	G	C14148732G	XPC	NM_004628.4(XPC):c.2251-1G>C	coding	Pathogenic
3	14148737	T	G	T14148737G	XPC	NM_004628.4(XPC):c.2251-6A>C	noncoding	Benign
3	14148768	G	C	G14148768C	XPC	NM_004628.4(XPC):c.2251-37C>G	noncoding	Benign
3	14148832	T	G	T14148832G	XPC	NM_004628.5(XPC):c.2232A>C:p.Pro744=	coding	Benign
3	14148846	C	A	C14148846A	XPC	NM_004628.5(XPC):c.2218G>T:p.Glu740Ter	coding	Pathogenic/Likely_pathogenic
3	14152376	T	A	T14152376A	XPC	NM_004628.5(XPC):c.2074A>T:p.Lys692Ter	coding	Pathogenic
3	14152384	G	A	G14152384A	XPC	NM_004628.5(XPC):c.2066C>T:p.Thr689Met	coding	Benign
3	14152389	C	T	C14152389T	XPC	NM_004628.5(XPC):c.2061G>A:p.Arg687=	coding	Benign
3	14156333	A	C	A14156333C	XPC	NM_004628.4(XPC):c.2033+2T>G	noncoding	Pathogenic
3	14156340	G	A	G14156340A	XPC	NM_004628.5(XPC):c.2028C>T:p.Tyr676=	coding	Benign
3	14156384	C	A	C14156384A	XPC	NM_004628.5(XPC):c.1984G>T:p.Glu662Ter	coding	Pathogenic
3	14156474	G	A	G14156474A	XPC	NM_004628.4(XPC):c.1894C>T:p.Gln632Ter	coding	Pathogenic
3	14156487	A	T	A14156487T	XPC	NM_001354727.2(XPC):c.1872+1524T>A	coding	Benign
3	14158010	C	G	C14158010G	XPC	NM_004628.4(XPC):c.1872+1G>C	noncoding	Pathogenic
3	14158042	A	G	A14158042G	XPC	NM_004628.5(XPC):c.1841T>C:p.Phe614Ser	coding	Benign
3	14158103	G	A	G14158103A	XPC	NM_004628.5(XPC):c.1780C>T:p.Arg594Cys	coding	Benign/Likely_benign
3	14158148	G	A	G14158148A	XPC	NM_004628.5(XPC):c.1735C>T:p.Arg579Ter	coding	Pathogenic
3	14158149	G	T	G14158149T	XPC	NM_004628.5(XPC):c.1734C>A:p.Val578=	coding	Benign
3	14158179	A	T	A14158179T	XPC	NM_004628.5(XPC):c.1704T>A:p.Tyr568Ter	coding	Pathogenic
3	14158206	G	C	G14158206C	XPC	NM_004628.5(XPC):c.1677C>G:p.Tyr559Ter	coding	Pathogenic
3	14158206	G	T	G14158206T	XPC	NM_004628.5(XPC):c.1677C>A:p.Tyr559Ter	coding	Pathogenic
3	14158344	C	G	C14158344G	XPC	NM_004628.5(XPC):c.1539G>C:p.Met513Ile	coding	Benign
3	14158386	C	T	C14158386T	XPC	NM_004628.5(XPC):c.1497G>A:p.Ala499=	coding	Benign
3	14158387	G	A	G14158387A	XPC	NM_004628.5(XPC):c.1496C>T:p.Ala499Val	coding	Benign
3	14158408	C	T	C14158408T	XPC	NM_004628.5(XPC):c.1475G>A:p.Arg492His	coding	Benign
3	14158440	C	A	C14158440A	XPC	NM_004628.5(XPC):c.1443G>T:p.Lys481Asn	coding	Benign/Likely_benign
3	14158521	A	G	A14158521G	XPC	NM_004628.5(XPC):c.1362T>C:p.Asp454=	coding	Benign
3	14158640	G	A	G14158640A	XPC	NM_004628.5(XPC):c.1243C>T:p.Arg415Ter	coding	Pathogenic
3	14158883	G	A	G14158883A	XPC	NM_004628.5(XPC):c.1000C>T:p.Pro334Ser	coding	Benign/Likely_benign
3	14159773	G	A	G14159773A	XPC	NM_004628.5(XPC):c.958C>T:p.Gln320Ter	coding	Pathogenic/Likely_pathogenic
3	14159792	G	A	G14159792A	XPC	NM_004628.5(XPC):c.939C>T:p.Thr313=	coding	Benign
3	14159852	T	C	T14159852C	XPC	NM_004628.4(XPC):c.901-22A>G	noncoding	Benign
3	14164836	G	A	G14164836A	XPC	NM_004628.5(XPC):c.877C>T:p.Arg293Ter	coding	Pathogenic
3	14164853	A	C	A14164853C	XPC	NM_004628.5(XPC):c.860T>G:p.Phe287Cys	coding	Benign
3	14164948	G	A	G14164948A	XPC	NM_004628.4(XPC):c.780-15C>T	noncoding	Benign
3	14165468	G	A	G14165468A	XPC	NM_004628.5(XPC):c.739C>T:p.Arg247Ter	coding	Pathogenic
3	14165549	G	A	G14165549A	XPC	NM_004628.5(XPC):c.658C>T:p.Arg220Ter	coding	Pathogenic
3	14165587	T	G	T14165587G	XPC	NM_004628.4(XPC):c.622-2A>C	noncoding	Pathogenic
3	14165601	G	C	G14165601C	XPC	NM_004628.4(XPC):c.622-16C>G	noncoding	Benign
3	14167125	G	C	G14167125C	XPC	NM_004628.4(XPC):c.621+44C>G	noncoding	Benign
3	14168330	G	A	G14168330A	XPC	NM_004628.5(XPC):c.463C>T:p.Arg155Ter	coding	Pathogenic
3	14168389	A	T	A14168389T	XPC	NM_004628.4(XPC):c.413-9T>A	noncoding	Pathogenic
3	14170547	G	A	G14170547A	XPC	NM_004628.5(XPC):c.303C>T:p.Asp101=	coding	Benign
3	14170550	C	T	C14170550T	XPC	NM_004628.5(XPC):c.300G>A:p.Arg100=	coding	Benign
3	14173019	G	A	G14173019A	XPC	NM_004628.5(XPC):c.147C>T:p.Ser49=	coding	Benign/Likely_benign
3	14173024	G	A	G14173024A	XPC	NM_004628.5(XPC):c.142C>T:p.Leu48Phe	coding	Benign
3	14178514	G	A	G14178514A	XPC	NM_004628.5(XPC):c.55C>T:p.Gln19Ter	coding	Pathogenic/Likely_pathogenic
3	14178523	G	C	G14178523C	XPC	NM_004628.5(XPC):c.46C>G:p.Leu16Val	coding	Benign
3	14178595	C	G	C14178595G	XPC	NM_004628.5(XPC):c.-27G>C	noncoding	Benign
3	14178639	G	A	G14178639A	XPC	NM_004628.4(XPC):c.-71C>T	noncoding	Benign
3	14181574	C	T	C14181574T	LSM3	NM_014463.3(LSM3):c.36C>T:p.Asn12=	coding	Benign
3	14654515	A	G	A14654515G	CCDC174	NM_016474.5(CCDC174):c.132A>G:p.Pro44=	coding	Benign
3	14661587	G	A	G14661587A	CCDC174	NM_016474.5(CCDC174):c.365G>A:p.Arg122His	coding	Benign
3	14665062	C	T	C14665062T	CCDC174	NM_016474.5(CCDC174):c.520C>T:p.Arg174Cys	coding	Benign
3	14667469	A	C	A14667469C	CCDC174	NM_016474.5(CCDC174):c.770A>C:p.Lys257Thr	coding	Benign
3	14670025	C	A	C14670025A	CCDC174	NM_016474.5(CCDC174):c.1044C>A:p.Val348=	coding	Benign
3	14670886	T	A	T14670886A	CCDC174	NM_016474.5(CCDC174):c.1106-10T>A	noncoding	Benign/Likely_benign
3	14671080	A	C	A14671080C	CCDC174	NM_016474.5(CCDC174):c.1290A>C:p.Gly430=	coding	Benign
3	14671194	A	G	A14671194G	CCDC174	NM_016474.5(CCDC174):c.1404A>G:p.Ter468Trp	coding	Pathogenic
3	14820278	G	A	G14820278A	FGD5	NM_152536.4(FGD5):c.1207G>A:p.Gly403Arg	coding	Benign
3	14820295	C	T	C14820295T	FGD5	NM_152536.4(FGD5):c.1224C>T:p.Pro408=	coding	Benign
3	14820869	C	T	C14820869T	FGD5	NM_152536.4(FGD5):c.1798C>T:p.His600Tyr	coding	Benign
3	14821531	C	T	C14821531T	FGD5	NM_152536.4(FGD5):c.2460C>T:p.Tyr820=	coding	Benign
3	14821553	G	A	G14821553A	FGD5	NM_152536.4(FGD5):c.2482G>A:p.Ala828Thr	coding	Benign
3	14821589	G	A	G14821589A	FGD5	NM_152536.4(FGD5):c.2518G>A:p.Ala840Thr	coding	Benign
3	14897679	C	G	C14897679G	FGD5	NM_152536.4(FGD5):c.2909+10C>G	noncoding	Benign
3	14897999	C	T	C14897999T	FGD5	NM_152536.4(FGD5):c.2970C>T:p.His990=	coding	Benign
3	14922527	T	C	T14922527C	FGD5	NM_152536.4(FGD5):c.3786T>C:p.His1262=	coding	Benign
3	15023315	T	A	T15023315A	NR2C2	NM_003298.5(NR2C2):c.729T>A:p.Thr243=	coding	Benign
3	15059395	G	A	G15059395A	MRPS25	NM_022497.5(MRPS25):c.215C>T:p.Pro72Leu	coding	Pathogenic
3	15073869	G	A	G15073869A	RBSN	NM_022340.4(RBSN):c.2268C>T:p.Cys756=	coding	Benign
3	15074055	G	A	G15074055A	RBSN	NM_022340.4(RBSN):c.2082C>T:p.Asp694=	coding	Benign
3	15074871	C	T	C15074871T	RBSN	NM_022340.4(RBSN):c.1266G>A:p.Ala422=	coding	Benign
3	15075615	C	T	C15075615T	RBSN	NM_022340.4(RBSN):c.1197G>A:p.Val399=	coding	Benign
3	15077098	C	T	C15077098T	RBSN	NM_022340.4(RBSN):c.1065G>A:p.Gln355=	coding	Benign
3	15082357	C	T	C15082357T	RBSN	NM_022340.4(RBSN):c.840+10G>A	noncoding	Benign
3	15082360	G	A	G15082360A	RBSN	NM_022340.4(RBSN):c.840+7C>T	noncoding	Benign
3	15256306	A	G	A15256306G	SH3BP5	NM_004844.5(SH3BP5):c.1151-3T>C	coding	Benign
3	15434411	G	A	G15434411A	EAF1	NM_033083.7(EAF1):c.399G>A:p.Thr133=	coding	Benign
3	15436433	C	T	C15436433T	EAF1	NM_033083.7(EAF1):c.618C>T:p.Asp206=	coding	Benign
3	15450249	G	A	G15450249A	COLQ	NM_005677.4(COLQ):c.*1395C>T	noncoding	Benign
3	15450643	C	T	C15450643T	COLQ	NM_005677.4(COLQ):c.*1001G>A	noncoding	Benign
3	15450650	C	T	C15450650T	COLQ	NM_005677.4(COLQ):c.*994G>A	noncoding	Benign
3	15451129	G	A	G15451129A	COLQ	NM_005677.4(COLQ):c.*515C>T	noncoding	Benign
3	15451152	C	T	C15451152T	COLQ	NM_005677.4(COLQ):c.*492G>A	noncoding	Benign
3	15451279	T	A	T15451279A	COLQ	NM_005677.4(COLQ):c.*365A>T	noncoding	Benign
3	15451300	G	A	G15451300A	COLQ	NM_005677.4(COLQ):c.*344C>T	noncoding	Benign
3	15451674	G	T	G15451674T	COLQ	NM_005677.4(COLQ):c.1338C>A:p.Ile446=	coding	Benign
3	15453794	G	T	G15453794T	COLQ	NM_005677.4(COLQ):c.1298+35C>A	noncoding	Benign
3	15453795	A	T	A15453795T	COLQ	NM_005677.4(COLQ):c.1298+34T>A	noncoding	Benign
3	15453826	T	C	T15453826C	COLQ	NM_005677.4(COLQ):c.1298+3A>G	noncoding	Pathogenic
3	15453838	T	G	T15453838G	COLQ	NM_005677.4(COLQ):c.1289A>C:p.Tyr430Ser	coding	Pathogenic
3	15453846	G	T	G15453846T	COLQ	NM_005677.4(COLQ):c.1281C>A:p.Cys427Ter	coding	Pathogenic
3	15453879	G	A	G15453879A	COLQ	NM_005677.4(COLQ):c.1248C>T:p.Asp416=	coding	Benign
3	15453898	C	T	C15453898T	COLQ	NM_005677.4(COLQ):c.1229G>A:p.Arg410Gln	coding	Pathogenic
3	15453899	G	A	G15453899A	COLQ	NM_005677.4(COLQ):c.1228C>T:p.Arg410Trp	coding	Pathogenic/Likely_pathogenic
3	15454137	T	C	T15454137C	COLQ	NM_005677.4(COLQ):c.1196-206A>G	noncoding	Benign
3	15454147	A	G	A15454147G	COLQ	NM_005677.4(COLQ):c.1196-216T>C	noncoding	Benign
3	15454152	C	T	C15454152T	COLQ	NM_005677.4(COLQ):c.1196-221G>A	noncoding	Benign
3	15454257	G	A	G15454257A	COLQ	NM_005677.4(COLQ):c.1196-326C>T	noncoding	Benign
3	15455898	C	T	C15455898T	COLQ	NM_005677.4(COLQ):c.1195+1G>A	noncoding	Pathogenic
3	15455986	C	T	C15455986T	COLQ	NM_005677.4(COLQ):c.1108G>A:p.Asp370Asn	coding	Benign/Likely_benign
3	15456013	G	A	G15456013A	COLQ	NM_005677.4(COLQ):c.1081C>T:p.Pro361Ser	coding	Benign/Likely_benign
3	15456754	T	C	T15456754C	COLQ	NM_005677.4(COLQ):c.955-175A>G	noncoding	Benign
3	15456765	G	A	G15456765A	COLQ	NM_005677.4(COLQ):c.955-186C>T	noncoding	Benign
3	15458197	G	A	G15458197A	COLQ	NM_005677.4(COLQ):c.943C>T:p.Arg315Ter	coding	Pathogenic
3	15458206	T	C	T15458206C	COLQ	NM_005677.4(COLQ):c.934A>G:p.Ser312Gly	coding	Benign
3	15458296	T	A	T15458296A	COLQ	NM_005677.4(COLQ):c.844A>T:p.Arg282Ter	coding	Pathogenic
3	15466254	G	A	G15466254A	COLQ	NM_005677.4(COLQ):c.814+87C>T	noncoding	Benign
3	15466366	C	T	C15466366T	COLQ	NM_005677.4(COLQ):c.789G>A:p.Pro263=	coding	Benign/Likely_benign
3	15466437	C	A	C15466437A	COLQ	NM_005677.4(COLQ):c.718G>T:p.Gly240Ter	coding	Pathogenic
3	15467820	C	G	C15467820G	COLQ	NM_005677.4(COLQ):c.718-1383G>C	noncoding	Benign
3	15470574	G	A	G15470574A	COLQ	NM_005677.4(COLQ):c.679C>T:p.Arg227Ter	coding	Pathogenic
3	15470613	C	A	C15470613A	COLQ	NM_005677.4(COLQ):c.640G>T:p.Glu214Ter	coding	Pathogenic
3	15474188	C	T	C15474188T	COLQ	NM_005677.4(COLQ):c.600+40G>A	noncoding	Benign
3	15474287	T	C	T15474287C	COLQ	NM_005677.4(COLQ):c.556-15A>G	noncoding	Benign
3	15474411	C	G	C15474411G	COLQ	NM_005677.4(COLQ):c.556-139G>C	noncoding	Benign
3	15474953	T	C	T15474953C	COLQ	NM_005677.4(COLQ):c.529-2A>G	noncoding	Pathogenic
3	15474974	T	C	T15474974C	COLQ	NM_005677.4(COLQ):c.529-23A>G	noncoding	Benign
3	15475313	C	T	C15475313T	COLQ	NM_005677.4(COLQ):c.528+112G>A	noncoding	Benign
3	15475403	T	C	T15475403C	COLQ	NM_005677.4(COLQ):c.528+22A>G	noncoding	Benign
3	15475447	G	C	G15475447C	COLQ	NM_005677.4(COLQ):c.506C>G:p.Ser169Ter	coding	Pathogenic
3	15475518	G	A	G15475518A	COLQ	NM_005677.4(COLQ):c.466-31C>T	noncoding	Benign
3	15477224	G	C	G15477224C	COLQ	NM_005677.4(COLQ):c.394-27C>G	noncoding	Benign
3	15477334	G	A	G15477334A	COLQ	NM_005677.4(COLQ):c.394-137C>T	noncoding	Benign
3	15477382	T	C	T15477382C	COLQ	NM_005677.4(COLQ):c.394-185A>G	noncoding	Benign
3	15478737	C	T	C15478737T	COLQ	NM_005677.4(COLQ):c.393+240G>A	noncoding	Benign
3	15478966	G	A	G15478966A	COLQ	NM_005677.4(COLQ):c.393+11C>T	noncoding	Benign/Likely_benign
3	15478976	C	T	C15478976T	COLQ	NM_005677.4(COLQ):c.393+1G>A	noncoding	Pathogenic
3	15479132	T	G	T15479132G	COLQ	NM_005677.4(COLQ):c.367-129A>C	noncoding	Benign
3	15479170	G	T	G15479170T	COLQ	NM_005677.4(COLQ):c.367-167C>A	noncoding	Benign
3	15479331	T	C	T15479331C	COLQ	NM_005677.4(COLQ):c.366+7A>G	noncoding	Benign
3	15487898	C	A	C15487898A	COLQ	NM_005677.4(COLQ):c.321+308G>T	noncoding	Benign
3	15488036	T	C	T15488036C	COLQ	NM_005677.4(COLQ):c.321+170A>G	noncoding	Benign
3	15488227	G	A	G15488227A	COLQ	NM_005677.4(COLQ):c.300C>T:p.Ser100=	coding	Benign/Likely_benign
3	15488236	C	T	C15488236T	COLQ	NM_005677.4(COLQ):c.291G>A:p.Ser97=	coding	Benign/Likely_benign
3	15488308	C	T	C15488308T	COLQ	NM_005677.4(COLQ):c.220-1G>A	coding	Pathogenic
3	15489524	C	G	C15489524G	COLQ	NM_005677.4(COLQ):c.219+1G>C	noncoding	Pathogenic
3	15521294	T	C	T15521294C	COLQ	NM_005677.4(COLQ):c.106+226A>G	noncoding	Benign
3	15521671	C	T	C15521671T	COLQ	NM_005677.4(COLQ):c.-46G>A	noncoding	Benign
3	15521761	C	G	C15521761G	COLQ	NM_005677.3(COLQ):c.-136G>C	noncoding	Benign
3	15573200	C	T	C15573200T	HACL1	NM_012260.4(HACL1):c.952G>A:p.Ala318Thr	coding	Benign
3	15582929	C	T	C15582929T	HACL1	NM_012260.4(HACL1):c.615G>A:p.Thr205=	coding	Benign
3	15601817	C	T	C15601817T	BTD	NM_001370658.1(BTD):c.-94C>T	coding	Benign/Likely_benign
3	15635515	G	T	G15635515T	BTD	NM_001370658.1(BTD):c.76G>T:p.Glu26Ter	coding	Pathogenic
3	15635539	G	T	G15635539T	BTD	NM_001370658.1(BTD):c.100G>T:p.Glu34Ter	coding	Pathogenic
3	15635550	T	G	T15635550G	BTD	NM_001370658.1(BTD):c.111T>G:p.Tyr37Ter	coding	Pathogenic
3	15635563	G	A	G15635563A	BTD	NM_001370658.1(BTD):c.124G>A:p.Val42Met	coding	Pathogenic
3	15635563	G	T	G15635563T	BTD	NM_001370658.1(BTD):c.124G>T:p.Val42Leu	coding	Pathogenic
3	15635569	G	A	G15635569A	BTD	NM_001370658.1(BTD):c.130G>A:p.Glu44Lys	coding	Pathogenic
3	15635571	G	C	G15635571C	BTD	NM_001370658.1(BTD):c.132G>C:p.Glu44Asp	coding	Pathogenic
3	15635573	A	G	A15635573G	BTD	NM_001370658.1(BTD):c.134A>G:p.His45Arg	coding	Pathogenic
3	15635581	A	G	A15635581G	BTD	NM_001370658.1(BTD):c.142A>G:p.Ile48Val	coding	Benign
3	15635590	C	T	C15635590T	BTD	NM_001370658.1(BTD):c.151C>T:p.Leu51=	coding	Benign
3	15635613	C	T	C15635613T	BTD	NM_001370658.1(BTD):c.174C>T:p.Ser58=	coding	Benign
3	15635614	C	T	C15635614T	BTD	NM_001370658.1(BTD):c.175C>T:p.Arg59Cys	coding	Pathogenic/Likely_pathogenic
3	15635624	C	A	C15635624A	BTD	NM_001370658.1(BTD):c.185C>A:p.Ala62Asp	coding	Pathogenic
3	15635636	T	G	T15635636G	BTD	NM_001370658.1(BTD):c.197T>G:p.Met66Arg	coding	Pathogenic
3	15635641	C	T	C15635641T	BTD	NM_001370658.1(BTD):c.202C>T:p.Gln68Ter	coding	Pathogenic
3	15635662	C	T	C15635662T	BTD	NM_001370658.1(BTD):c.223C>T:p.Gln75Ter	coding	Pathogenic
3	15635677	G	A	G15635677A	BTD	NM_001370658.1(BTD):c.238G>A:p.Ala80Thr	coding	Pathogenic
3	15635689	G	A	G15635689A	BTD	NM_001370658.1(BTD):c.249+1G>A	coding	Pathogenic
3	15641908	G	T	G15641908T	BTD	NM_001370658.1(BTD):c.250G>T:p.Asp84Tyr	coding	Pathogenic
3	15641924	T	G	T15641924G	BTD	NM_001370658.1(BTD):c.266T>G:p.Val89Gly	coding	Pathogenic
3	15641932	G	A	G15641932A	BTD	NM_001370658.1(BTD):c.274G>A:p.Glu92Lys	coding	Pathogenic
3	15641939	G	T	G15641939T	BTD	NM_001370658.1(BTD):c.281G>T:p.Gly94Val	coding	Pathogenic/Likely_pathogenic
3	15641980	T	G	T15641980G	BTD	NM_001370658.1(BTD):c.322T>G:p.Phe108Val	coding	Pathogenic
3	15642042	C	A	C15642042A	BTD	NM_001370658.1(BTD):c.384C>A:p.Arg128=	coding	Benign
3	15642043	T	C	T15642043C	BTD	NM_001370658.1(BTD):c.385T>C:p.Phe129Leu	coding	Pathogenic
3	15642052	A	C	A15642052C	BTD	NM_001370658.1(BTD):c.394A>C:p.Thr132Pro	coding	Pathogenic
3	15642057	G	A	G15642057A	BTD	NM_001370658.1(BTD):c.399G>A:p.Glu133=	coding	Pathogenic/Likely_pathogenic
3	15644322	C	T	C15644322T	BTD	NM_001370658.1(BTD):c.406C>T:p.Gln136Ter	coding	Pathogenic
3	15644326	G	A	G15644326A	BTD	NM_001370658.1(BTD):c.410G>A:p.Arg137His	coding	Pathogenic
3	15644374	T	G	T15644374G	BTD	NM_001370658.1(BTD):c.458T>G:p.Leu153Arg	coding	Pathogenic
3	15644384	G	T	G15644384T	BTD	NM_001370658.1(BTD):c.468G>T:p.Lys156Asn	coding	Pathogenic
3	15644413	G	A	G15644413A	BTD	NM_001370658.1(BTD):c.497G>A:p.Cys166Tyr	coding	Pathogenic/Likely_pathogenic
3	15644415	C	T	C15644415T	BTD	NM_001370658.1(BTD):c.499C>T:p.Pro167Ser	coding	Pathogenic
3	15644440	A	G	A15644440G	BTD	NM_001370658.1(BTD):c.524A>G:p.Asn175Ser	coding	Pathogenic
3	15644443	C	G	C15644443G	BTD	NM_001370658.1(BTD):c.527C>G:p.Thr176Arg	coding	Pathogenic
3	15644451	G	A	G15644451A	BTD	NM_001370658.1(BTD):c.535G>A:p.Val179Met	coding	Pathogenic/Likely_pathogenic
3	15644461	A	T	A15644461T	BTD	NM_001370658.1(BTD):c.545A>T:p.Asn182Ile	coding	Pathogenic
3	15644482	G	A	G15644482A	BTD	NM_001370658.1(BTD):c.566G>A:p.Arg189His	coding	Pathogenic/Likely_pathogenic
3	15644487	C	T	C15644487T	BTD	NM_001370658.1(BTD):c.571C>T:p.Arg191Cys	coding	Pathogenic
3	15644499	C	T	C15644499T	BTD	NM_001370658.1(BTD):c.583C>T:p.Leu195Phe	coding	Pathogenic
3	15644502	T	A	T15644502A	BTD	NM_001370658.1(BTD):c.586T>A:p.Tyr196Asn	coding	Pathogenic
3	15644508	G	C	G15644508C	BTD	NM_001370658.1(BTD):c.592G>C:p.Glu198Gln	coding	Pathogenic
3	15644510	G	C	G15644510C	BTD	NM_001370658.1(BTD):c.594G>C:p.Glu198Asp	coding	Pathogenic
3	15644520	G	C	G15644520C	BTD	NM_001370658.1(BTD):c.604G>C:p.Asp202His	coding	Pathogenic
3	15644539	A	G	A15644539G	BTD	NM_001370658.1(BTD):c.623A>G:p.Asp208Gly	coding	Pathogenic
3	15644551	T	C	T15644551C	BTD	NM_001370658.1(BTD):c.635T>C:p.Phe212Ser	coding	Pathogenic
3	15644557	C	T	C15644557T	BTD	NM_001370658.1(BTD):c.641C>T:p.Thr214Ile	coding	Pathogenic/Likely_pathogenic
3	15644611	A	G	A15644611G	BTD	NM_001370658.1(BTD):c.695A>G:p.Asp232Gly	coding	Pathogenic
3	15644614	C	T	C15644614T	BTD	NM_001370658.1(BTD):c.698C>T:p.Pro233Leu	coding	Pathogenic
3	15644626	T	A	T15644626A	BTD	NM_001370658.1(BTD):c.710T>A:p.Val237Asp	coding	Pathogenic
3	15644639	C	G	C15644639G	BTD	NM_001370658.1(BTD):c.723C>G:p.Tyr241Ter	coding	Pathogenic
3	15644650	A	T	A15644650T	BTD	NM_001370658.1(BTD):c.734A>T:p.His245Leu	coding	Pathogenic
3	15644688	C	G	C15644688G	BTD	NM_001370658.1(BTD):c.772C>G:p.Leu258Val	coding	Pathogenic
3	15644692	T	A	T15644692A	BTD	NM_001370658.1(BTD):c.776T>A:p.Leu259Ter	coding	Pathogenic
3	15644692	T	G	T15644692G	BTD	NM_001370658.1(BTD):c.776T>G:p.Leu259Trp	coding	Pathogenic
3	15644712	A	G	A15644712G	BTD	NM_001370658.1(BTD):c.796A>G:p.Lys266Glu	coding	Pathogenic
3	15644721	G	C	G15644721C	BTD	NM_001370658.1(BTD):c.805G>C:p.Ala269Pro	coding	Pathogenic
3	15644743	T	G	T15644743G	BTD	NM_001370658.1(BTD):c.827T>G:p.Val276Gly	coding	Pathogenic
3	15644751	G	C	G15644751C	BTD	NM_001370658.1(BTD):c.835G>C:p.Ala279Pro	coding	Pathogenic/Likely_pathogenic
3	15644752	C	T	C15644752T	BTD	NM_001370658.1(BTD):c.836C>T:p.Ala279Val	coding	Pathogenic
3	15644785	G	A	G15644785A	BTD	NM_001370658.1(BTD):c.869G>A:p.Gly290Glu	coding	Pathogenic
3	15644788	G	A	G15644788A	BTD	NM_001370658.1(BTD):c.872G>A:p.Ser291Asn	coding	Pathogenic
3	15644789	T	G	T15644789G	BTD	NM_001370658.1(BTD):c.873T>G:p.Ser291Arg	coding	Pathogenic
3	15644857	T	A	T15644857A	BTD	NM_001370658.1(BTD):c.941T>A:p.Ile314Asn	coding	Pathogenic
3	15644918	G	A	G15644918A	BTD	NM_001370658.1(BTD):c.1002G>A:p.Thr334=	coding	Benign/Likely_benign
3	15644937	T	G	T15644937G	BTD	NM_001370658.1(BTD):c.1021T>G:p.Phe341Val	coding	Pathogenic
3	15644941	T	A	T15644941A	BTD	NM_001370658.1(BTD):c.1025T>A:p.Leu342Ter	coding	Pathogenic/Likely_pathogenic
3	15644952	T	C	T15644952C	BTD	NM_001370658.1(BTD):c.1036T>C:p.Ser346Pro	coding	Pathogenic
3	15644982	C	T	C15644982T	BTD	NM_001370658.1(BTD):c.1066C>T:p.Gln356Ter	coding	Pathogenic
3	15645013	G	A	G15645013A	BTD	NM_001370658.1(BTD):c.1097G>A:p.Trp366Ter	coding	Pathogenic
3	15645027	C	T	C15645027T	BTD	NM_001370658.1(BTD):c.1111C>T:p.Pro371Ser	coding	Benign/Likely_benign
3	15645070	T	C	T15645070C	BTD	NM_001370658.1(BTD):c.1154T>C:p.Leu385Pro	coding	Pathogenic
3	15645105	G	T	G15645105T	BTD	NM_001370658.1(BTD):c.1189G>T:p.Val397Phe	coding	Pathogenic
3	15645109	G	C	G15645109C	BTD	NM_001370658.1(BTD):c.1193G>C:p.Cys398Ser	coding	Pathogenic
3	15645124	G	C	G15645124C	BTD	NM_001370658.1(BTD):c.1208G>C:p.Cys403Ser	coding	Pathogenic
3	15645127	G	A	G15645127A	BTD	NM_001370658.1(BTD):c.1211G>A:p.Cys404Tyr	coding	Pathogenic/Likely_pathogenic
3	15645127	G	C	G15645127C	BTD	NM_001370658.1(BTD):c.1211G>C:p.Cys404Ser	coding	Pathogenic
3	15645131	T	G	T15645131G	BTD	NM_001370658.1(BTD):c.1215T>G:p.Tyr405Ter	coding	Pathogenic
3	15645140	C	A	C15645140A	BTD	NM_001370658.1(BTD):c.1224C>A:p.Tyr408Ter	coding	Pathogenic
3	15645140	C	T	C15645140T	BTD	NM_001370658.1(BTD):c.1224C>T:p.Tyr408=	coding	Benign/Likely_benign
3	15645169	A	G	A15645169G	BTD	NM_001370658.1(BTD):c.1253A>G:p.Tyr418Cys	coding	Pathogenic
3	15645189	G	A	G15645189A	BTD	NM_001370658.1(BTD):c.1273G>A:p.Gly425Arg	coding	Pathogenic
3	15645190	G	T	G15645190T	BTD	NM_001370658.1(BTD):c.1274G>T:p.Gly425Val	coding	Pathogenic
3	15645208	G	A	G15645208A	BTD	NM_001370658.1(BTD):c.1292G>A:p.Gly431Asp	coding	Pathogenic
3	15645224	A	C	A15645224C	BTD	NM_001370658.1(BTD):c.1308A>C:p.Gln436His	coding	Pathogenic
3	15645225	G	A	G15645225A	BTD	NM_001370658.1(BTD):c.1309G>A:p.Val437Met	coding	Pathogenic
3	15645269	T	C	T15645269C	BTD	NM_001370658.1(BTD):c.1353T>C:p.Cys451=	coding	Benign
3	15645303	G	T	G15645303T	BTD	NM_001370658.1(BTD):c.1387G>T:p.Glu463Ter	coding	Pathogenic
3	15645315	T	C	T15645315C	BTD	NM_001370658.1(BTD):c.1399T>C:p.Trp467Arg	coding	Pathogenic
3	15645319	G	A	G15645319A	BTD	NM_001370658.1(BTD):c.1403G>A:p.Gly468Asp	coding	Pathogenic
3	15645345	C	T	C15645345T	BTD	NM_001370658.1(BTD):c.1429C>T:p.Pro477Ser	coding	Pathogenic
3	15645367	T	A	T15645367A	BTD	NM_001370658.1(BTD):c.1451T>A:p.Met484Lys	coding	Pathogenic
3	15645381	C	T	C15645381T	BTD	NM_001370658.1(BTD):c.1465C>T:p.Pro489Ser	coding	Pathogenic
3	15645382	C	G	C15645382G	BTD	NM_001370658.1(BTD):c.1466C>G:p.Pro489Arg	coding	Pathogenic
3	15645413	T	G	T15645413G	BTD	NM_001370658.1(BTD):c.1497T>G:p.Tyr499Ter	coding	Pathogenic
3	15645451	C	T	C15645451T	BTD	NM_001370658.1(BTD):c.1535C>T:p.Thr512Met	coding	Pathogenic
3	15645457	C	T	C15645457T	BTD	NM_001370658.1(BTD):c.1541C>T:p.Ala514Val	coding	Pathogenic
3	15645466	G	A	G15645466A	BTD	NM_001370658.1(BTD):c.1550G>A:p.Gly517Glu	coding	Pathogenic
3	15645468	C	T	C15645468T	BTD	NM_001370658.1(BTD):c.1552C>T:p.Arg518Cys	coding	Pathogenic
3	15645469	G	A	G15645469A	BTD	NM_001370658.1(BTD):c.1553G>A:p.Arg518His	coding	Pathogenic
3	15645483	G	C	G15645483C	BTD	NM_001370658.1(BTD):c.1567G>C:p.Asp523His	coding	Pathogenic
3	15645484	A	T	A15645484T	BTD	NM_001370658.1(BTD):c.1568A>T:p.Asp523Val	coding	Pathogenic
3	15645485	C	A	C15645485A	BTD	NM_001370658.1(BTD):c.1569C>A:p.Asp523Glu	coding	Pathogenic
3	17014786	C	T	C17014786T	PLCL2	NM_001144382.2(PLCL2):c.2893C>T:p.Pro965Ser	coding	Benign
3	17089910	T	G	T17089910G	PLCL2	NM_001144382.2(PLCL2):c.3382T>G:p.Ter1128Gly	coding	Benign
3	18394794	T	C	T18394794C	SATB1	NM_002971.6(SATB1):c.874A>G:p.Ser292Gly	coding	Benign
3	18397295	A	G	A18397295G	SATB1	NM_002971.6(SATB1):c.640-5T>C	noncoding	Benign
3	19451301	G	T	G19451301T	KCNH8	NM_144633.3(KCNH8):c.1722G>T:p.Pro574=	coding	Benign
3	19456866	A	G	A19456866G	KCNH8	NM_144633.3(KCNH8):c.1924A>G:p.Ile642Val	coding	Benign
3	19533725	G	C	G19533725C	KCNH8	NM_144633.3(KCNH8):c.2950G>C:p.Glu984Gln	coding	Benign
3	19983742	A	G	A19983742G	RAB5A	NM_004162.5(RAB5A):c.567A>G:p.Pro189=	coding	Benign
3	20111614	C	T	C20111614T	KAT2B	NM_003884.5(KAT2B):c.870C>T:p.Asn290=	coding	Benign
3	20147957	G	A	G20147957A	KAT2B	NM_003884.5(KAT2B):c.2120-6G>A	noncoding	Benign
3	20147980	C	A	C20147980A	KAT2B	NM_003884.5(KAT2B):c.2137C>A:p.Pro713Thr	coding	Benign
3	20174566	T	G	T20174566G	SGO1	NM_001199251.3(SGO1):c.965A>C:p.Gln322Pro	coding	Benign
3	20174877	C	T	C20174877T	SGO1	NM_001199251.3(SGO1):c.654G>A:p.Gly218=	coding	Benign
3	20175019	A	G	A20175019G	SGO1	NM_001199251.3(SGO1):c.512T>C:p.Val171Ala	coding	Benign
3	20183961	T	C	T20183961C	SGO1	NM_001199251.3(SGO1):c.67A>G:p.Lys23Glu	coding	Pathogenic
3	20183998	G	T	G20183998T	SGO1	NM_001199251.3(SGO1):c.30C>A:p.Ser10=	coding	Benign
3	21564619	C	T	C21564619T	ZNF385D	NM_024697.3(ZNF385D):c.231G>A:p.Lys77=	coding	Benign
3	23887582	C	T	C23887582T	UBE2E1	NM_003341.5(UBE2E1):c.219C>T:p.Gly73=	coding	Benign
3	23889189	T	C	T23889189C	UBE2E1	NM_003341.5(UBE2E1):c.414T>C:p.Asn138=	coding	Benign
3	23917934	C	G	C23917934G	RPL15	NM_001253383.3(RPL15):c.75C>G:p.Val25=	coding	Benign/Likely_benign
3	23918510	C	T	C23918510T	RPL15	NM_002948.5(RPL15):c.243C>T:p.Tyr81=	coding	Benign
3	23918549	T	C	T23918549C	RPL15	NM_002948.5(RPL15):c.282T>C:p.Phe94=	coding	Benign
3	23918589	G	C	G23918589C	RPL15	NM_001253383.3(RPL15):c.309+13G>C	noncoding	Benign
3	23919194	A	G	A23919194G	RPL15	NM_001253383.3(RPL15):c.310-2A>G	noncoding	Pathogenic
3	23956113	C	T	C23956113T	NR1D2	NM_005126.5(NR1D2):c.360C>T:p.Cys120=	coding	Benign
3	24117156	C	T	C24117156T	THRB	NM_001354712.2(THRB):c.*5728G>A	noncoding	Benign
3	24117183	T	A	T24117183A	THRB	NM_001354712.2(THRB):c.*5701A>T	noncoding	Benign
3	24117200	C	T	C24117200T	THRB	NM_001354712.2(THRB):c.*5684G>A	noncoding	Benign
3	24117351	C	T	C24117351T	THRB	NM_001354712.2(THRB):c.*5533G>A	noncoding	Benign
3	24117455	G	C	G24117455C	THRB	NM_001354712.2(THRB):c.*5429C>G	noncoding	Benign
3	24117517	G	A	G24117517A	THRB	NM_001354712.2(THRB):c.*5367C>T	noncoding	Benign
3	24117532	G	A	G24117532A	THRB	NM_001354712.2(THRB):c.*5352C>T	noncoding	Benign
3	24117622	G	A	G24117622A	THRB	NM_001354712.2(THRB):c.*5262C>T	noncoding	Benign
3	24117896	A	G	A24117896G	THRB	NM_001354712.2(THRB):c.*4988T>C	noncoding	Benign
3	24117909	C	G	C24117909G	THRB	NM_001354712.2(THRB):c.*4975G>C	noncoding	Benign
3	24117967	C	T	C24117967T	THRB	NM_001354712.2(THRB):c.*4917G>A	noncoding	Benign
3	24118060	G	A	G24118060A	THRB	NM_001354712.2(THRB):c.*4824C>T	noncoding	Benign
3	24118088	A	G	A24118088G	THRB	NM_001354712.2(THRB):c.*4796T>C	noncoding	Benign
3	24118122	C	T	C24118122T	THRB	NM_001354712.2(THRB):c.*4762G>A	noncoding	Benign
3	24118544	C	T	C24118544T	THRB	NM_001354712.2(THRB):c.*4340G>A	noncoding	Benign
3	24118679	T	C	T24118679C	THRB	NM_001354712.2(THRB):c.*4205A>G	noncoding	Benign
3	24118695	C	G	C24118695G	THRB	NM_001354712.2(THRB):c.*4189G>C	noncoding	Benign
3	24118755	G	C	G24118755C	THRB	NM_001354712.2(THRB):c.*4129C>G	noncoding	Benign
3	24118955	C	T	C24118955T	THRB	NM_001354712.2(THRB):c.*3929G>A	noncoding	Benign
3	24119289	C	G	C24119289G	THRB	NM_001354712.2(THRB):c.*3595G>C	noncoding	Benign
3	24119425	G	A	G24119425A	THRB	NM_001354712.2(THRB):c.*3459C>T	noncoding	Benign
3	24119527	G	C	G24119527C	THRB	NM_001354712.2(THRB):c.*3357C>G	noncoding	Benign
3	24119592	C	T	C24119592T	THRB	NM_001354712.2(THRB):c.*3292G>A	noncoding	Benign
3	24119721	T	C	T24119721C	THRB	NM_001354712.2(THRB):c.*3163A>G	noncoding	Benign
3	24119741	A	G	A24119741G	THRB	NM_001354712.2(THRB):c.*3143T>C	noncoding	Benign
3	24119867	G	A	G24119867A	THRB	NM_001354712.2(THRB):c.*3017C>T	noncoding	Benign
3	24119908	C	T	C24119908T	THRB	NM_001354712.2(THRB):c.*2976G>A	noncoding	Benign
3	24119972	T	C	T24119972C	THRB	NM_001354712.2(THRB):c.*2912A>G	noncoding	Benign
3	24120002	C	T	C24120002T	THRB	NM_001354712.2(THRB):c.*2882G>A	noncoding	Benign
3	24120098	C	A	C24120098A	THRB	NM_001354712.2(THRB):c.*2786G>T	noncoding	Benign
3	24120247	C	A	C24120247A	THRB	NM_001354712.2(THRB):c.*2637G>T	noncoding	Benign
3	24120268	A	C	A24120268C	THRB	NM_001354712.2(THRB):c.*2616T>G	noncoding	Benign
3	24120350	C	T	C24120350T	THRB	NM_001354712.2(THRB):c.*2534G>A	noncoding	Benign
3	24120368	T	C	T24120368C	THRB	NM_001354712.2(THRB):c.*2516A>G	noncoding	Benign
3	24120537	G	C	G24120537C	THRB	NM_001354712.2(THRB):c.*2347C>G	noncoding	Benign
3	24120538	A	G	A24120538G	THRB	NM_001354712.2(THRB):c.*2346T>C	noncoding	Benign
3	24120568	T	C	T24120568C	THRB	NM_001354712.2(THRB):c.*2316A>G	noncoding	Benign
3	24120740	C	G	C24120740G	THRB	NM_001354712.2(THRB):c.*2144G>C	noncoding	Benign
3	24120779	A	C	A24120779C	THRB	NM_001354712.2(THRB):c.*2105T>G	noncoding	Benign
3	24120925	G	A	G24120925A	THRB	NM_001354712.2(THRB):c.*1959C>T	noncoding	Benign
3	24121222	A	G	A24121222G	THRB	NM_001354712.2(THRB):c.*1662T>C	noncoding	Benign
3	24121323	A	C	A24121323C	THRB	NM_001354712.2(THRB):c.*1561T>G	noncoding	Benign
3	24121475	A	G	A24121475G	THRB	NM_001354712.2(THRB):c.*1409T>C	noncoding	Benign
3	24121509	G	A	G24121509A	THRB	NM_001354712.2(THRB):c.*1375C>T	noncoding	Benign
3	24121530	T	C	T24121530C	THRB	NM_001354712.2(THRB):c.*1354A>G	noncoding	Benign
3	24121550	G	A	G24121550A	THRB	NM_001354712.2(THRB):c.*1334C>T	noncoding	Benign
3	24121600	T	G	T24121600G	THRB	NM_001354712.2(THRB):c.*1284A>C	noncoding	Benign
3	24121780	A	G	A24121780G	THRB	NM_001354712.2(THRB):c.*1104T>C	noncoding	Benign
3	24121835	C	T	C24121835T	THRB	NM_001354712.2(THRB):c.*1049G>A	noncoding	Benign
3	24122154	C	G	C24122154G	THRB	NM_001354712.2(THRB):c.*730G>C	noncoding	Benign
3	24122214	T	C	T24122214C	THRB	NM_001354712.2(THRB):c.*670A>G	noncoding	Benign
3	24122282	C	G	C24122282G	THRB	NM_001354712.2(THRB):c.*602G>C	noncoding	Benign
3	24122416	C	T	C24122416T	THRB	NM_001354712.2(THRB):c.*468G>A	noncoding	Benign
3	24122430	A	C	A24122430C	THRB	NM_001354712.2(THRB):c.*454T>G	noncoding	Benign
3	24122473	T	C	T24122473C	THRB	NM_001354712.2(THRB):c.*411A>G	noncoding	Benign
3	24122523	C	T	C24122523T	THRB	NM_001354712.2(THRB):c.*361G>A	noncoding	Benign
3	24122689	G	A	G24122689A	THRB	NM_001354712.2(THRB):c.*195C>T	noncoding	Benign
3	24122777	C	G	C24122777G	THRB	NM_001354712.2(THRB):c.*107G>C	noncoding	Benign
3	24122892	C	T	C24122892T	THRB	NM_001354712.2(THRB):c.1378G>A:p.Glu460Lys	coding	Pathogenic
3	24122894	A	C	A24122894C	THRB	NM_001354712.2(THRB):c.1376T>G:p.Phe459Cys	coding	Pathogenic
3	24122912	G	T	G24122912T	THRB	NM_001354712.2(THRB):c.1358C>A:p.Pro453His	coding	Pathogenic
3	24122913	G	A	G24122913A	THRB	NM_001354712.2(THRB):c.1357C>T:p.Pro453Ser	coding	Pathogenic
3	24122913	G	C	G24122913C	THRB	NM_001354712.2(THRB):c.1357C>G:p.Pro453Ala	coding	Pathogenic
3	24122913	G	T	G24122913T	THRB	NM_001354712.2(THRB):c.1357C>A:p.Pro453Thr	coding	Pathogenic
3	24122921	A	T	A24122921T	THRB	NM_001354712.2(THRB):c.1349T>A:p.Leu450His	coding	Pathogenic
3	24122922	G	A	G24122922A	THRB	NM_001354712.2(THRB):c.1348C>T:p.Leu450Phe	coding	Pathogenic
3	24122934	A	G	A24122934G	THRB	NM_001354712.2(THRB):c.1336T>C:p.Cys446Arg	coding	Pathogenic
3	24122943	T	C	T24122943C	THRB	NM_001354712.2(THRB):c.1327A>G:p.Lys443Glu	coding	Pathogenic
3	24122957	C	T	C24122957T	THRB	NM_001354712.2(THRB):c.1313G>A:p.Arg438His	coding	Pathogenic
3	24122958	G	A	G24122958A	THRB	NM_001354712.2(THRB):c.1312C>T:p.Arg438Cys	coding	Pathogenic
3	24122965	A	C	A24122965C	THRB	NM_001354712.2(THRB):c.1305T>G:p.His435Gln	coding	Pathogenic
3	24122968	G	T	G24122968T	THRB	NM_001354712.2(THRB):c.1302C>A:p.Cys434Ter	coding	Pathogenic
3	24122971	G	A	G24122971A	THRB	NM_001354712.2(THRB):c.1299C>T:p.Ala433=	coding	Benign
3	24122984	C	T	C24122984T	THRB	NM_001354712.2(THRB):c.1286G>A:p.Arg429Gln	coding	Pathogenic
3	24123019	A	G	A24123019G	THRB	NM_001354712.2(THRB):c.1251T>C:p.Phe417=	coding	Benign/Likely_benign
3	24123122	C	T	C24123122T	THRB	NM_001354712.2(THRB):c.1148G>A:p.Arg383His	coding	Pathogenic
3	24127490	C	T	C24127490T	THRB	NM_001354712.2(THRB):c.1144+9G>A	noncoding	Benign
3	24127603	C	T	C24127603T	THRB	NM_001354712.2(THRB):c.1040G>A:p.Gly347Glu	coding	Pathogenic
3	24127609	C	A	C24127609A	THRB	NM_001354712.2(THRB):c.1034G>T:p.Gly345Val	coding	Pathogenic
3	24127609	C	T	C24127609T	THRB	NM_001354712.2(THRB):c.1034G>A:p.Gly345Asp	coding	Pathogenic
3	24127610	C	G	C24127610G	THRB	NM_001354712.2(THRB):c.1033G>C:p.Gly345Arg	coding	Pathogenic
3	24127610	C	T	C24127610T	THRB	NM_001354712.2(THRB):c.1033G>A:p.Gly345Ser	coding	Pathogenic
3	24127612	C	T	C24127612T	THRB	NM_001354712.2(THRB):c.1031G>A:p.Gly344Glu	coding	Pathogenic
3	24127623	C	G	C24127623G	THRB	NM_001354712.2(THRB):c.1020G>C:p.Gln340His	coding	Pathogenic
3	24127631	G	A	G24127631A	THRB	NM_001354712.2(THRB):c.1012C>T:p.Arg338Trp	coding	Pathogenic
3	24127634	T	C	T24127634C	THRB	NM_001354712.2(THRB):c.1009A>G:p.Thr337Ala	coding	Pathogenic
3	24127663	G	T	G24127663T	THRB	NM_001354712.2(THRB):c.980C>A:p.Thr327Asn	coding	Pathogenic
3	24127679	C	G	C24127679G	THRB	NM_001354712.2(THRB):c.964G>C:p.Asp322His	coding	Pathogenic
3	24127684	C	A	C24127684A	THRB	NM_001354712.2(THRB):c.959G>T:p.Arg320Leu	coding	Pathogenic
3	24127684	C	T	C24127684T	THRB	NM_001354712.2(THRB):c.959G>A:p.Arg320His	coding	Pathogenic/Likely_pathogenic
3	24127685	G	A	G24127685A	THRB	NM_001354712.2(THRB):c.958C>T:p.Arg320Cys	coding	Pathogenic
3	24127694	C	T	C24127694T	THRB	NM_001354712.2(THRB):c.949G>A:p.Ala317Thr	coding	Pathogenic
3	24127696	C	T	C24127696T	THRB	NM_001354712.2(THRB):c.947G>A:p.Arg316His	coding	Pathogenic
3	24127702	G	A	G24127702A	THRB	NM_001354712.2(THRB):c.941C>T:p.Ser314Phe	coding	Pathogenic
3	24127705	A	G	A24127705G	THRB	NM_001354712.2(THRB):c.938T>C:p.Met313Thr	coding	Pathogenic
3	24127714	A	G	A24127714G	THRB	NM_001354712.2(THRB):c.929T>C:p.Met310Thr	coding	Pathogenic
3	24127715	T	A	T24127715A	THRB	NM_001354712.2(THRB):c.928A>T:p.Met310Leu	coding	Pathogenic
3	24127715	T	C	T24127715C	THRB	NM_001354712.2(THRB):c.928A>G:p.Met310Val	coding	Pathogenic
3	24133398	G	C	G24133398C	THRB	NM_001354712.2(THRB):c.803C>G:p.Ala268Gly	coding	Pathogenic/Likely_pathogenic
3	24143504	G	A	G24143504A	THRB	NM_001354712.2(THRB):c.735C>T:p.Phe245=	coding	Benign
3	24143511	C	T	C24143511T	THRB	NM_001354712.2(THRB):c.728G>A:p.Arg243Gln	coding	Pathogenic
3	24143512	G	A	G24143512A	THRB	NM_001354712.2(THRB):c.727C>T:p.Arg243Trp	coding	Pathogenic
3	24143539	C	T	C24143539T	THRB	NM_001354712.2(THRB):c.700G>A:p.Ala234Thr	coding	Pathogenic
3	24190182	T	C	T24190182C	THRB	NM_001354712.2(THRB):c.175A>G:p.Ile59Val	coding	Benign
3	24190195	C	T	C24190195T	THRB	NM_001354712.2(THRB):c.162G>A:p.Ser54=	coding	Benign
3	24190213	C	T	C24190213T	THRB	NM_001354712.2(THRB):c.144G>A:p.Thr48=	coding	Benign
3	24190290	G	A	G24190290A	THRB	NM_001354712.2(THRB):c.67C>T:p.Arg23Ter	coding	Pathogenic
3	25461184	C	G	C25461184G	RARB	NM_000965.4(RARB):c.158-9C>G	noncoding	Benign
3	25461305	G	A	G25461305A	RARB	NM_000965.4(RARB):c.270G>A:p.Gly90=	coding	Benign
3	25501230	C	T	C25501230T	RARB	NM_000965.4(RARB):c.355C>T:p.Arg119Ter	coding	Pathogenic
3	25580704	C	T	C25580704T	RARB	NM_000965.4(RARB):c.768C>T:p.Ala256=	coding	Benign
3	25593676	C	A	C25593676A	RARB	NM_000965.4(RARB):c.960C>A:p.Gly320=	coding	Benign
3	25596424	A	G	A25596424G	RARB	NM_000965.4(RARB):c.1155A>G:p.Ala385=	coding	Benign
3	25596428	C	A	C25596428A	RARB	NM_000965.4(RARB):c.1159C>A:p.Arg387Ser	coding	Pathogenic
3	25596428	C	T	C25596428T	RARB	NM_000965.4(RARB):c.1159C>T:p.Arg387Cys	coding	Pathogenic/Likely_pathogenic
3	25596585	G	C	G25596585C	RARB	NM_000965.4(RARB):c.1316G>C:p.Ser439Thr	coding	Benign
3	25599443	T	C	T25599443C	TOP2B	NM_001330700.1(TOP2B):c.4702A>G:p.Thr1568Ala	coding	Benign
3	25615437	A	G	A25615437G	TOP2B	NM_001330700.1(TOP2B):c.3501T>C:p.Asp1167=	coding	Benign
3	25624775	T	C	T25624775C	TOP2B	NM_001330700.1(TOP2B):c.2253A>G:p.Leu751=	coding	Benign
3	25719556	A	G	A25719556G	NGLY1	NM_018297.4(NGLY1):c.1869T>C:p.Gly623=	coding	Benign/Likely_benign
3	25720013	C	A	C25720013A	NGLY1	NM_018297.4(NGLY1):c.1789+1G>T	noncoding	Pathogenic
3	25720081	T	C	T25720081C	NGLY1	NM_018297.4(NGLY1):c.1722A>G:p.Gln574=	coding	Benign/Likely_benign
3	25720179	G	A	G25720179A	NGLY1	NM_018297.4(NGLY1):c.1624C>T:p.Arg542Ter	coding	Pathogenic
3	25729140	C	T	C25729140T	NGLY1	NM_018297.4(NGLY1):c.1604G>A:p.Trp535Ter	coding	Pathogenic
3	25729293	C	G	C25729293G	NGLY1	NM_018297.4(NGLY1):c.1451G>C:p.Cys484Ser	coding	Benign
3	25729308	G	A	G25729308A	NGLY1	NM_018297.4(NGLY1):c.1436C>T:p.Thr479Ile	coding	Benign
3	25732339	G	A	G25732339A	NGLY1	NM_018297.4(NGLY1):c.1405C>T:p.Arg469Ter	coding	Pathogenic
3	25732480	G	A	G25732480A	NGLY1	NM_018297.4(NGLY1):c.1264C>T:p.Gln422Ter	coding	Pathogenic
3	25733865	A	C	A25733865C	NGLY1	NM_018297.4(NGLY1):c.1260+7T>G	noncoding	Benign
3	25733901	G	A	G25733901A	NGLY1	NM_018297.4(NGLY1):c.1231C>T:p.Arg411Ter	coding	Pathogenic/Likely_pathogenic
3	25733931	T	A	T25733931A	NGLY1	NM_018297.4(NGLY1):c.1201A>T:p.Arg401Ter	coding	Pathogenic
3	25733963	C	G	C25733963G	NGLY1	NM_018297.4(NGLY1):c.1169G>C:p.Arg390Pro	coding	Pathogenic
3	25733983	C	G	C25733983G	NGLY1	NM_018297.4(NGLY1):c.1150-1G>C	coding	Pathogenic/Likely_pathogenic
3	25737376	G	A	G25737376A	NGLY1	NM_018297.4(NGLY1):c.961C>T:p.Arg321Ter	coding	Pathogenic/Likely_pathogenic
3	25737406	C	T	C25737406T	NGLY1	NM_018297.4(NGLY1):c.931G>A:p.Glu311Lys	coding	Pathogenic/Likely_pathogenic
3	25739569	G	A	G25739569A	NGLY1	NM_018297.4(NGLY1):c.881+8C>T	noncoding	Benign/Likely_benign
3	25739572	C	A	C25739572A	NGLY1	NM_018297.4(NGLY1):c.881+5G>T	noncoding	Pathogenic
3	25739587	G	A	G25739587A	NGLY1	NM_018297.4(NGLY1):c.871C>T:p.Arg291Ter	coding	Pathogenic/Likely_pathogenic
3	25739728	A	G	A25739728G	NGLY1	NM_018297.4(NGLY1):c.730T>C:p.Trp244Arg	coding	Pathogenic
3	25751134	G	A	G25751134A	NGLY1	NM_018297.4(NGLY1):c.622C>T:p.Gln208Ter	coding	Pathogenic
3	25751206	C	A	C25751206A	NGLY1	NM_018297.4(NGLY1):c.550G>T:p.Val184Phe	coding	Benign
3	25764211	G	C	G25764211C	NGLY1	NM_018297.4(NGLY1):c.347C>G:p.Ser116Ter	coding	Pathogenic
3	25778566	A	T	A25778566T	NGLY1	NM_018297.4(NGLY1):c.246+8T>A	noncoding	Benign
3	25778702	A	G	A25778702G	NGLY1	NM_018297.4(NGLY1):c.132-14T>C	noncoding	Benign
3	25783268	G	A	G25783268A	NGLY1	NM_018297.4(NGLY1):c.123C>T:p.Asn41=	coding	Benign
3	25783398	C	T	C25783398T	NGLY1	NM_018297.4(NGLY1):c.-8G>A	coding	Benign
3	26710245	C	T	C26710245T	LRRC3B	NM_001317808.1(LRRC3B):c.573C>T:p.Asp191=	coding	Benign
3	27192217	G	A	G27192217A	NEK10	NM_152534.4(NEK10):c.2317C>T:p.Arg773Cys	coding	Pathogenic
3	27201558	G	A	G27201558A	NEK10	NM_152534.4(NEK10):c.2243C>T:p.Pro748Leu	coding	Pathogenic
3	27284640	T	C	T27284640C	NEK10	NM_199347.4(NEK10):c.1976A>G:p.Asn659Ser	coding	Benign
3	27297174	C	G	C27297174G	NEK10	NM_152534.4(NEK10):c.1230+5G>C	noncoding	Pathogenic
3	27297207	T	C	T27297207C	NEK10	NM_199347.4(NEK10):c.1202A>G:p.Asn401Ser	coding	Benign
3	27717265	G	A	G27717265A	EOMES	NM_001278182.2(EOMES):c.1923C>T:p.Pro641=	coding	Benign
3	27721936	G	C	G27721936C	EOMES	NM_001278182.2(EOMES):c.359C>G:p.Ala120Gly	coding	Benign
3	29762904	T	A	T29762904A	RBMS3	NM_001003793.3(RBMS3):c.558-6T>A	noncoding	Benign
3	29762949	T	C	T29762949C	RBMS3	NM_001003793.3(RBMS3):c.597T>C:p.His199=	coding	Benign
3	29884215	A	G	A29884215G	RBMS3	NM_001003793.3(RBMS3):c.791+7A>G	noncoding	Benign
3	29897394	G	A	G29897394A	RBMS3	NM_001003793.3(RBMS3):c.807G>A:p.Pro269=	coding	Benign
3	29936079	C	T	C29936079T	RBMS3	NM_001003793.3(RBMS3):c.940-7C>T	noncoding	Benign
3	29988140	T	C	T29988140C	RBMS3	NM_001003793.3(RBMS3):c.1099-3T>C	noncoding	Benign
3	29988205	G	A	G29988205A	RBMS3	NM_001003793.3(RBMS3):c.1161G>A:p.Pro387=	coding	Benign
3	30606756	C	G	C30606756G	TGFBR2	NM_003242.6(TGFBR2):c.-128C>G	noncoding	Benign
3	30606958	A	G	A30606958G	TGFBR2	NM_003242.6(TGFBR2):c.75A>G:p.Pro25=	coding	Benign/Likely_benign
3	30623215	C	T	C30623215T	TGFBR2	NM_003242.6(TGFBR2):c.94+16238C>T	coding	Benign/Likely_benign
3	30644922	A	G	A30644922G	TGFBR2	NM_003242.6(TGFBR2):c.263+7A>G	noncoding	Benign
3	30649981	G	A	G30649981A	TGFBR2	NM_003242.6(TGFBR2):c.264-289G>A	noncoding	Benign
3	30650235	T	G	T30650235G	TGFBR2	NM_003242.6(TGFBR2):c.264-35T>G	noncoding	Benign/Likely_benign
3	30650727	T	C	T30650727C	TGFBR2	NM_003242.6(TGFBR2):c.454+267T>C	noncoding	Benign
3	30671335	A	C	A30671335C	TGFBR2	NM_003242.6(TGFBR2):c.455-303A>C	noncoding	Benign
3	30671634	T	A	T30671634A	TGFBR2	NM_003242.6(TGFBR2):c.455-4T>A	noncoding	Benign
3	30671754	G	A	G30671754A	TGFBR2	NM_003242.6(TGFBR2):c.571G>A:p.Val191Ile	coding	Benign/Likely_benign
3	30672014	G	T	G30672014T	TGFBR2	NM_003242.6(TGFBR2):c.831G>T:p.Lys277Asn	coding	Pathogenic
3	30672098	C	T	C30672098T	TGFBR2	NM_003242.6(TGFBR2):c.915C>T:p.Leu305=	coding	Benign/Likely_benign
3	30672106	T	C	T30672106C	TGFBR2	NM_003242.6(TGFBR2):c.923T>C:p.Leu308Pro	coding	Pathogenic
3	30672143	A	G	A30672143G	TGFBR2	NM_003242.6(TGFBR2):c.960A>G:p.Gln320=	coding	Benign
3	30672167	C	T	C30672167T	TGFBR2	NM_003242.6(TGFBR2):c.984C>T:p.His328=	coding	Benign/Likely_benign
3	30672170	C	T	C30672170T	TGFBR2	NM_003242.6(TGFBR2):c.987C>T:p.Ala329=	coding	Benign
3	30672182	A	G	A30672182G	TGFBR2	NM_003242.6(TGFBR2):c.999A>G:p.Leu333=	coding	Benign
3	30672189	T	A	T30672189A	TGFBR2	NM_003242.6(TGFBR2):c.1006T>A:p.Tyr336Asn	coding	Pathogenic
3	30672189	T	G	T30672189G	TGFBR2	NM_003242.6(TGFBR2):c.1006T>G:p.Tyr336Asp	coding	Pathogenic
3	30672197	G	A	G30672197A	TGFBR2	NM_003242.6(TGFBR2):c.1014G>A:p.Thr338=	coding	Benign/Likely_benign
3	30672245	C	T	C30672245T	TGFBR2	NM_003242.6(TGFBR2):c.1062C>T:p.Leu354=	coding	Benign/Likely_benign
3	30672250	G	C	G30672250C	TGFBR2	NM_003242.6(TGFBR2):c.1067G>C:p.Arg356Pro	coding	Pathogenic
3	30672252	G	T	G30672252T	TGFBR2	NM_003242.6(TGFBR2):c.1069G>T:p.Gly357Trp	coding	Pathogenic
3	30672308	C	T	C30672308T	TGFBR2	NM_003242.6(TGFBR2):c.1125C>T:p.Ile375=	coding	Benign/Likely_benign
3	30672319	A	T	A30672319T	TGFBR2	NM_003242.6(TGFBR2):c.1136A>T:p.Asp379Val	coding	Pathogenic
3	30672350	C	T	C30672350T	TGFBR2	NM_003242.6(TGFBR2):c.1167C>T:p.Asn389=	coding	Benign
3	30672361	G	A	G30672361A	TGFBR2	NM_003242.6(TGFBR2):c.1178G>A:p.Cys393Tyr	coding	Pathogenic
3	30674111	A	G	A30674111G	TGFBR2	NM_003242.6(TGFBR2):c.1261A>G:p.Thr421Ala	coding	Pathogenic
3	30674116	A	G	A30674116G	TGFBR2	NM_003242.6(TGFBR2):c.1266A>G:p.Ala422=	coding	Benign
3	30674121	A	G	A30674121G	TGFBR2	NM_003242.6(TGFBR2):c.1271A>G:p.Tyr424Cys	coding	Pathogenic
3	30674123	A	G	A30674123G	TGFBR2	NM_003242.6(TGFBR2):c.1273A>G:p.Met425Val	coding	Pathogenic
3	30674126	G	A	G30674126A	TGFBR2	NM_003242.6(TGFBR2):c.1276G>A:p.Ala426Thr	coding	Pathogenic
3	30674127	C	A	C30674127A	TGFBR2	NM_003242.6(TGFBR2):c.1277C>A:p.Ala426Asp	coding	Pathogenic
3	30674129	C	T	C30674129T	TGFBR2	NM_003242.6(TGFBR2):c.1279C>T:p.Pro427Ser	coding	Pathogenic
3	30674130	C	T	C30674130T	TGFBR2	NM_003242.6(TGFBR2):c.1280C>T:p.Pro427Leu	coding	Pathogenic
3	30674186	G	A	G30674186A	TGFBR2	NM_003242.6(TGFBR2):c.1336G>A:p.Asp446Asn	coding	Pathogenic/Likely_pathogenic
3	30674196	C	G	C30674196G	TGFBR2	NM_003242.6(TGFBR2):c.1346C>G:p.Ser449Cys	coding	Pathogenic
3	30674196	C	T	C30674196T	TGFBR2	NM_003242.6(TGFBR2):c.1346C>T:p.Ser449Phe	coding	Pathogenic
3	30674228	C	T	C30674228T	TGFBR2	NM_003242.6(TGFBR2):c.1378C>T:p.Arg460Cys	coding	Pathogenic
3	30674229	G	A	G30674229A	TGFBR2	NM_003242.6(TGFBR2):c.1379G>A:p.Arg460His	coding	Pathogenic
3	30674229	G	T	G30674229T	TGFBR2	NM_003242.6(TGFBR2):c.1379G>T:p.Arg460Leu	coding	Pathogenic
3	30674231	T	C	T30674231C	TGFBR2	NM_003242.6(TGFBR2):c.1381T>C:p.Cys461Arg	coding	Pathogenic
3	30688144	G	A	G30688144A	TGFBR2	NM_003242.6(TGFBR2):c.1397-240G>A	noncoding	Benign
3	30688244	A	C	A30688244C	TGFBR2	NM_003242.6(TGFBR2):c.1397-140A>C	noncoding	Benign
3	30688382	A	G	A30688382G	TGFBR2	NM_003242.6(TGFBR2):c.1397-2A>G	noncoding	Pathogenic
3	30688383	G	A	G30688383A	TGFBR2	NM_003242.6(TGFBR2):c.1397-1G>A	noncoding	Pathogenic
3	30688395	T	G	T30688395G	TGFBR2	NM_003242.6(TGFBR2):c.1408T>G:p.Tyr470Asp	coding	Pathogenic/Likely_pathogenic
3	30688396	A	G	A30688396G	TGFBR2	NM_003242.6(TGFBR2):c.1409A>G:p.Tyr470Cys	coding	Pathogenic
3	30688445	C	T	C30688445T	TGFBR2	NM_003242.6(TGFBR2):c.1458C>T:p.Ser486=	coding	Benign/Likely_benign
3	30688470	C	T	C30688470T	TGFBR2	NM_003242.6(TGFBR2):c.1483C>T:p.Arg495Ter	coding	Pathogenic
3	30688499	G	A	G30688499A	TGFBR2	NM_003242.6(TGFBR2):c.1512G>A:p.Trp504Ter	coding	Pathogenic
3	30688511	G	A	G30688511A	TGFBR2	NM_003242.6(TGFBR2):c.1524G>A:p.Gln508=	coding	Pathogenic
3	30688512	G	T	G30688512T	TGFBR2	NM_003242.6(TGFBR2):c.1524+1G>T	coding	Pathogenic
3	30688741	C	G	C30688741G	TGFBR2	NM_003242.6(TGFBR2):c.1524+230C>G	noncoding	Benign
3	30691412	C	T	C30691412T	TGFBR2	NM_003242.6(TGFBR2):c.1525-8C>T	noncoding	Benign/Likely_benign
3	30691443	G	A	G30691443A	TGFBR2	NM_003242.6(TGFBR2):c.1548G>A:p.Thr516=	coding	Benign/Likely_benign
3	30691465	G	A	G30691465A	TGFBR2	NM_003242.6(TGFBR2):c.1570G>A:p.Asp524Asn	coding	Pathogenic
3	30691471	G	C	G30691471C	TGFBR2	NM_003242.6(TGFBR2):c.1576G>C:p.Glu526Gln	coding	Pathogenic
3	30691477	C	T	C30691477T	TGFBR2	NM_003242.6(TGFBR2):c.1582C>T:p.Arg528Cys	coding	Pathogenic
3	30691478	G	A	G30691478A	TGFBR2	NM_003242.6(TGFBR2):c.1583G>A:p.Arg528His	coding	Pathogenic
3	30691497	G	A	G30691497A	TGFBR2	NM_003242.6(TGFBR2):c.1602G>A:p.Val534=	coding	Benign/Likely_benign
3	30691504	C	T	C30691504T	TGFBR2	NM_003242.6(TGFBR2):c.1609C>T:p.Arg537Cys	coding	Pathogenic
3	30692346	C	G	C30692346G	TGFBR2	NM_003242.6(TGFBR2):c.*747C>G	noncoding	Benign
3	30693120	G	A	G30693120A	TGFBR2	NM_003242.6(TGFBR2):c.*1521G>A	noncoding	Benign
3	30693408	A	G	A30693408G	TGFBR2	NM_003242.6(TGFBR2):c.*1809A>G	noncoding	Benign
3	30693664	C	T	C30693664T	TGFBR2	NM_003242.6(TGFBR2):c.*2065C>T	noncoding	Benign
3	30693684	T	A	T30693684A	TGFBR2	NM_003242.6(TGFBR2):c.*2085T>A	noncoding	Benign
3	31576453	T	C	T31576453C	STT3B	NM_178862.3(STT3B):c.372T>C:p.Asn124=	coding	Benign
3	31579862	A	G	A31579862G	STT3B	NM_178862.3(STT3B):c.477A>G:p.Thr159=	coding	Benign
3	31596870	T	G	T31596870G	STT3B	NM_178862.3(STT3B):c.777+7T>G	noncoding	Benign
3	31600343	C	A	C31600343A	STT3B	NM_178862.3(STT3B):c.778-17C>A	noncoding	Benign
3	31624950	C	T	C31624950T	STT3B	NM_178862.3(STT3B):c.1764C>T:p.Tyr588=	coding	Benign
3	31626141	T	C	T31626141C	STT3B	NM_178862.3(STT3B):c.2073+14T>C	noncoding	Benign
3	31633069	A	G	A31633069G	STT3B	NM_178862.3(STT3B):c.2322A>G:p.Ala774=	coding	Benign/Likely_benign
3	31635989	C	A	C31635989A	STT3B	NM_178862.3(STT3B):c.2406C>A:p.Thr802=	coding	Benign
3	31989652	G	A	G31989652A	ZNF860	NM_001137674.3(ZNF860):c.573G>A:p.Thr191=	coding	Benign
3	32106421	G	A	G32106421A	GPD1L	NM_015141.3(GPD1L):c.-291G>A	noncoding	Benign
3	32106485	T	G	T32106485G	GPD1L	NM_015141.3(GPD1L):c.-227T>G	noncoding	Benign
3	32127948	G	A	G32127948A	GPD1L	NM_015141.3(GPD1L):c.48-128G>A	noncoding	Benign
3	32128109	T	C	T32128109C	GPD1L	NM_015141.3(GPD1L):c.81T>C:p.Asn27=	coding	Benign
3	32128428	T	G	T32128428G	GPD1L	NM_015141.3(GPD1L):c.225+175T>G	noncoding	Benign
3	32138735	G	A	G32138735A	GPD1L	NM_015141.3(GPD1L):c.366+8G>A	noncoding	Benign
3	32139911	A	G	A32139911G	GPD1L	NM_015141.3(GPD1L):c.367-317A>G	noncoding	Benign
3	32140192	G	A	G32140192A	GPD1L	NM_015141.3(GPD1L):c.367-36G>A	noncoding	Benign
3	32140257	G	A	G32140257A	GPD1L	NM_015141.3(GPD1L):c.396G>A:p.Lys132=	coding	Benign
3	32140269	C	T	C32140269T	GPD1L	NM_015141.3(GPD1L):c.408C>T:p.Asp136=	coding	Benign
3	32140326	C	T	C32140326T	GPD1L	NM_015141.3(GPD1L):c.465C>T:p.Ala155=	coding	Benign/Likely_benign
3	32146388	A	G	A32146388G	GPD1L	NM_015141.3(GPD1L):c.506-234A>G	noncoding	Benign
3	32146451	G	T	G32146451T	GPD1L	NM_015141.3(GPD1L):c.506-171G>T	noncoding	Benign
3	32146514	G	A	G32146514A	GPD1L	NM_015141.3(GPD1L):c.506-108G>A	noncoding	Benign
3	32146689	C	G	C32146689G	GPD1L	NM_015141.3(GPD1L):c.573C>G:p.Thr191=	coding	Benign
3	32158631	A	G	A32158631G	GPD1L	NM_015141.3(GPD1L):c.619-245A>G	noncoding	Benign
3	32158741	G	A	G32158741A	GPD1L	NM_015141.3(GPD1L):c.619-135G>A	noncoding	Benign
3	32158830	T	C	T32158830C	GPD1L	NM_015141.3(GPD1L):c.619-46T>C	noncoding	Benign
3	32158867	C	G	C32158867G	GPD1L	NM_015141.3(GPD1L):c.619-9C>G	noncoding	Benign/Likely_benign
3	32159070	G	T	G32159070T	GPD1L	NM_015141.3(GPD1L):c.813G>T:p.Arg271=	coding	Benign/Likely_benign
3	32159085	C	T	C32159085T	GPD1L	NM_015141.3(GPD1L):c.828C>T:p.Ala276=	coding	Benign/Likely_benign
3	32159420	C	T	C32159420T	GPD1L	NM_015141.3(GPD1L):c.853-148C>T	noncoding	Benign
3	32159421	G	A	G32159421A	GPD1L	NM_015141.3(GPD1L):c.853-147G>A	noncoding	Benign
3	32165523	G	A	G32165523A	GPD1L	NM_015141.3(GPD1L):c.960-291G>A	noncoding	Benign
3	32165835	G	A	G32165835A	GPD1L	NM_015141.3(GPD1L):c.981G>A:p.Val327=	coding	Benign/Likely_benign
3	32873811	T	C	T32873811C	TRIM71	NM_001039111.3(TRIM71):c.853-7T>C	noncoding	Benign
3	32891027	G	A	G32891027A	TRIM71	NM_001039111.3(TRIM71):c.1823G>A:p.Arg608His	coding	Pathogenic
3	32891591	G	A	G32891591A	TRIM71	NM_001039111.3(TRIM71):c.2387G>A:p.Arg796His	coding	Pathogenic
3	32891637	G	A	G32891637A	TRIM71	NM_001039111.3(TRIM71):c.2433G>A:p.Ala811=	coding	Benign
3	32996691	A	G	A32996691G	GLB1	NM_000404.4(GLB1):c.*354T>C	noncoding	Benign
3	32996863	T	C	T32996863C	GLB1	NM_000404.4(GLB1):c.*182A>G	noncoding	Benign
3	32997246	C	T	C32997246T	GLB1	NM_000404.4(GLB1):c.1833G>A:p.Ser611=	coding	Benign/Likely_benign
3	32997255	C	G	C32997255G	GLB1	NM_000404.4(GLB1):c.1824G>C:p.Leu608=	coding	Benign
3	32997308	A	T	A32997308T	GLB1	NM_000404.4(GLB1):c.1771T>A:p.Tyr591Asn	coding	Pathogenic
3	32997311	G	A	G32997311A	GLB1	NM_000404.4(GLB1):c.1768C>T:p.Arg590Cys	coding	Pathogenic
3	33014057	T	C	T33014057C	GLB1	NM_000404.4(GLB1):c.1733A>G:p.Lys578Arg	coding	Pathogenic/Likely_pathogenic
3	33014144	G	A	G33014144A	GLB1	NM_000404.4(GLB1):c.1646C>T:p.Pro549Leu	coding	Pathogenic/Likely_pathogenic
3	33014196	T	C	T33014196C	GLB1	NM_000404.4(GLB1):c.1594A>G:p.Ser532Gly	coding	Benign/Likely_benign
3	33014213	C	T	C33014213T	GLB1	NM_000404.4(GLB1):c.1577G>A:p.Gly526Asp	coding	Benign/Likely_benign
3	33014229	A	G	A33014229G	GLB1	NM_000404.4(GLB1):c.1561T>C:p.Cys521Arg	coding	Benign
3	33014263	C	A	C33014263A	GLB1	NM_000404.4(GLB1):c.1527G>T:p.Trp509Cys	coding	Pathogenic
3	33014292	T	C	T33014292C	GLB1	NM_000404.4(GLB1):c.1498A>G:p.Thr500Ala	coding	Pathogenic/Likely_pathogenic
3	33014312	T	C	T33014312C	GLB1	NM_000404.4(GLB1):c.1480-2A>G	noncoding	Pathogenic
3	33016708	C	T	C33016708T	GLB1	NM_000404.4(GLB1):c.1479+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	33016743	C	T	C33016743T	GLB1	NM_000404.4(GLB1):c.1445G>A:p.Arg482His	coding	Pathogenic
3	33016818	C	T	C33016818T	GLB1	NM_000404.4(GLB1):c.1370G>A:p.Arg457Gln	coding	Pathogenic
3	33016819	G	A	G33016819A	GLB1	NM_000404.4(GLB1):c.1369C>T:p.Arg457Ter	coding	Pathogenic
3	33018470	C	T	C33018470T	GLB1	NM_000404.4(GLB1):c.1325G>A:p.Arg442Gln	coding	Pathogenic/Likely_pathogenic
3	33018474	C	T	C33018474T	GLB1	NM_000404.4(GLB1):c.1321G>A:p.Asp441Asn	coding	Pathogenic/Likely_pathogenic
3	33018477	G	A	G33018477A	GLB1	NM_000404.4(GLB1):c.1318C>T:p.His440Tyr	coding	Pathogenic
3	33018482	C	T	C33018482T	GLB1	NM_000404.4(GLB1):c.1313G>A:p.Gly438Glu	coding	Pathogenic
3	33018489	G	A	G33018489A	GLB1	NM_000404.4(GLB1):c.1306C>T:p.Leu436Phe	coding	Benign/Likely_benign
3	33018540	G	A	G33018540A	GLB1	NM_000404.4(GLB1):c.1255C>T:p.Arg419Trp	coding	Pathogenic
3	33018541	G	C	G33018541C	GLB1	NM_000404.4(GLB1):c.1254C>G:p.Tyr418Ter	coding	Pathogenic
3	33021558	A	G	A33021558G	GLB1	NM_000404.4(GLB1):c.1233+8T>C	noncoding	Benign/Likely_benign
3	33021590	G	C	G33021590C	GLB1	NM_000404.4(GLB1):c.1209C>G:p.Pro403=	coding	Benign
3	33021657	T	C	T33021657C	GLB1	NM_000404.4(GLB1):c.1144-2A>G	noncoding	Pathogenic/Likely_pathogenic
3	33046137	G	A	G33046137A	GLB1	NM_000404.4(GLB1):c.1051C>T:p.Arg351Ter	coding	Pathogenic
3	33051698	T	C	T33051698C	GLB1	NM_000404.4(GLB1):c.955+60A>G	noncoding	Benign
3	33051782	C	T	C33051782T	GLB1	NM_000404.4(GLB1):c.931G>A:p.Gly311Arg	coding	Pathogenic
3	33051791	A	G	A33051791G	GLB1	NM_000404.4(GLB1):c.922T>C:p.Phe308Leu	coding	Pathogenic
3	33051895	G	A	G33051895A	GLB1	NM_000404.4(GLB1):c.902C>T:p.Ala301Val	coding	Pathogenic
3	33051956	G	A	G33051956A	GLB1	NM_000404.4(GLB1):c.841C>T:p.His281Tyr	coding	Pathogenic/Likely_pathogenic
3	33051979	C	A	C33051979A	GLB1	NM_000404.4(GLB1):c.818G>T:p.Trp273Leu	coding	Pathogenic
3	33051989	A	C	A33051989C	GLB1	NM_000404.4(GLB1):c.808T>G:p.Tyr270Asp	coding	Pathogenic/Likely_pathogenic
3	33052023	G	A	G33052023A	GLB1	NM_000404.4(GLB1):c.793-19C>T	noncoding	Benign
3	33052136	A	C	A33052136C	GLB1	NM_000404.4(GLB1):c.793-132T>G	noncoding	Benign
3	33053481	C	A	C33053481A	GLB1	NM_000404.4(GLB1):c.792+10G>T	noncoding	Benign/Likely_benign
3	33053527	G	A	G33053527A	GLB1	NM_000404.4(GLB1):c.756C>T:p.Phe252=	coding	Benign/Likely_benign
3	33053551	T	C	T33053551C	GLB1	NM_000404.4(GLB1):c.734-2A>G	noncoding	Pathogenic
3	33058088	C	T	C33058088T	GLB1	NM_000404.4(GLB1):c.733+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	33058106	G	A	G33058106A	GLB1	NM_000404.4(GLB1):c.716C>T:p.Thr239Met	coding	Pathogenic
3	33058200	G	A	G33058200A	GLB1	NM_000404.4(GLB1):c.622C>T:p.Arg208Cys	coding	Pathogenic
3	33058220	C	T	C33058220T	GLB1	NM_000404.4(GLB1):c.602G>A:p.Arg201His	coding	Pathogenic
3	33058270	C	G	C33058270G	GLB1	NM_000404.4(GLB1):c.553-1G>C	coding	Pathogenic
3	33058388	T	C	T33058388C	GLB1	NM_000404.4(GLB1):c.553-119A>G	noncoding	Benign
3	33065442	C	T	C33065442T	GLB1	NM_000404.4(GLB1):c.552+21G>A	noncoding	Benign
3	33065551	A	C	A33065551C	GLB1	NM_000404.4(GLB1):c.464T>G:p.Leu155Arg	coding	Pathogenic
3	33065568	A	G	A33065568G	GLB1	NM_000404.4(GLB1):c.458-11T>C	noncoding	Benign
3	33068228	A	G	A33068228G	GLB1	NM_000404.4(GLB1):c.457+2T>C	noncoding	Pathogenic
3	33068244	C	T	C33068244T	GLB1	NM_000404.4(GLB1):c.443G>A:p.Arg148His	coding	Pathogenic/Likely_pathogenic
3	33068245	G	A	G33068245A	GLB1	NM_000404.4(GLB1):c.442C>T:p.Arg148Cys	coding	Pathogenic/Likely_pathogenic
3	33068245	G	T	G33068245T	GLB1	NM_000404.4(GLB1):c.442C>A:p.Arg148Ser	coding	Pathogenic/Likely_pathogenic
3	33068291	C	T	C33068291T	GLB1	NM_000404.4(GLB1):c.397-1G>A	coding	Pathogenic/Likely_pathogenic
3	33068698	G	T	G33068698T	GLB1	NM_000404.4(GLB1):c.396+122C>A	noncoding	Benign
3	33068818	A	G	A33068818G	GLB1	NM_000404.4(GLB1):c.396+2T>C	noncoding	Pathogenic
3	33068849	C	T	C33068849T	GLB1	NM_000404.4(GLB1):c.367G>A:p.Gly123Arg	coding	Pathogenic/Likely_pathogenic
3	33068891	G	A	G33068891A	GLB1	NM_000404.4(GLB1):c.325C>T:p.Arg109Trp	coding	Benign/Likely_benign
3	33068940	C	T	C33068940T	GLB1	NM_000404.4(GLB1):c.276G>A:p.Trp92Ter	coding	Pathogenic
3	33068969	A	G	A33068969G	GLB1	NM_000404.4(GLB1):c.247T>C:p.Tyr83His	coding	Pathogenic
3	33069164	T	C	T33069164C	GLB1	NM_000404.4(GLB1):c.246-194A>G	noncoding	Benign
3	33072543	C	T	C33072543T	GLB1	NM_000404.4(GLB1):c.245+1G>A	noncoding	Pathogenic
3	33072587	G	A	G33072587A	GLB1	NM_000404.4(GLB1):c.202C>T:p.Arg68Trp	coding	Pathogenic/Likely_pathogenic
3	33072613	C	T	C33072613T	GLB1	NM_000404.4(GLB1):c.176G>A:p.Arg59His	coding	Pathogenic/Likely_pathogenic
3	33072614	G	A	G33072614A	GLB1	NM_000404.4(GLB1):c.175C>T:p.Arg59Cys	coding	Pathogenic/Likely_pathogenic
3	33072618	G	C	G33072618C	GLB1	NM_000404.4(GLB1):c.171C>G:p.Tyr57Ter	coding	Pathogenic/Likely_pathogenic
3	33072637	A	G	A33072637G	GLB1	NM_000404.4(GLB1):c.152T>C:p.Ile51Thr	coding	Pathogenic
3	33097052	A	G	A33097052G	GLB1	NM_000404.4(GLB1):c.34T>C:p.Leu12=	coding	Benign
3	33097057	G	A	G33097057A	GLB1	NM_000404.4(GLB1):c.29C>T:p.Pro10Leu	coding	Benign
3	33097122	G	C	G33097122C	GLB1	NM_000404.4(GLB1):c.-37C>G	noncoding	Benign
3	33113893	T	C	T33113893C	CRTAP	NM_006371.4(CRTAP):c.-185T>C	noncoding	Benign
3	33114080	G	A	G33114080A	CRTAP	NM_006371.4(CRTAP):c.3G>A:p.Met1Ile	coding	Pathogenic
3	33114195	G	T	G33114195T	CRTAP	NM_006371.4(CRTAP):c.118G>T:p.Glu40Ter	coding	Pathogenic
3	33114275	C	A	C33114275A	CRTAP	NM_006371.4(CRTAP):c.198C>A:p.Tyr66Ter	coding	Pathogenic
3	33114290	G	A	G33114290A	CRTAP	NM_006371.4(CRTAP):c.213G>A:p.Leu71=	coding	Benign
3	33114521	C	G	C33114521G	CRTAP	NM_006371.4(CRTAP):c.444C>G:p.Tyr148Ter	coding	Pathogenic
3	33114549	G	C	G33114549C	CRTAP	NM_006371.4(CRTAP):c.471+1G>C	coding	Pathogenic
3	33114550	C	A	C33114550A	CRTAP	NM_006371.5(CRTAP):c.471+2C>A	noncoding	Pathogenic/Likely_pathogenic
3	33114704	T	C	T33114704C	CRTAP	NM_006371.4(CRTAP):c.471+156T>C	noncoding	Benign
3	33120406	C	T	C33120406T	CRTAP	NM_006371.4(CRTAP):c.534C>T:p.Asp178=	coding	Benign
3	33120430	A	G	A33120430G	CRTAP	NM_006371.4(CRTAP):c.558A>G:p.Ala186=	coding	Benign
3	33120433	T	G	T33120433G	CRTAP	NM_006371.4(CRTAP):c.561T>G:p.Tyr187Ter	coding	Pathogenic
3	33124392	T	C	T33124392C	CRTAP	NM_006371.4(CRTAP):c.622-16T>C	noncoding	Benign
3	33124409	G	A	G33124409A	CRTAP	NM_006371.5(CRTAP):c.623G>A:p.Ser208Asn	coding	Benign
3	33124427	T	C	T33124427C	CRTAP	NM_006371.4(CRTAP):c.641T>C:p.Val214Ala	coding	Benign
3	33129971	C	T	C33129971T	CRTAP	NM_006371.4(CRTAP):c.826C>T:p.Gln276Ter	coding	Pathogenic
3	33130033	C	T	C33130033T	CRTAP	NM_006371.4(CRTAP):c.888C>T:p.Thr296=	coding	Benign/Likely_benign
3	33130167	A	G	A33130167G	CRTAP	NM_006371.4(CRTAP):c.922+100A>G	noncoding	Benign
3	33132664	T	G	T33132664G	CRTAP	NM_006371.4(CRTAP):c.1032T>G:p.Thr344=	coding	Benign
3	33132676	G	A	G33132676A	CRTAP	NM_006371.4(CRTAP):c.1044G>A:p.Ser348=	coding	Benign
3	33133936	C	A	C33133936A	CRTAP	NM_006371.4(CRTAP):c.1069-246C>A	noncoding	Benign
3	33134301	C	A	C33134301A	CRTAP	NM_006371.4(CRTAP):c.1152+36C>A	noncoding	Benign
3	33134362	A	G	A33134362G	CRTAP	NM_006371.4(CRTAP):c.1152+97A>G	noncoding	Benign
3	33143225	C	A	C33143225A	CRTAP	NM_006371.4(CRTAP):c.*777C>A	noncoding	Benign
3	33143430	A	G	A33143430G	CRTAP	NM_006371.5(CRTAP):c.*982A>G	noncoding	Benign
3	33143915	G	A	G33143915A	CRTAP	NM_006371.4(CRTAP):c.*1467G>A	noncoding	Benign
3	33144367	A	G	A33144367G	CRTAP	NM_006371.4(CRTAP):c.*1919A>G	noncoding	Benign
3	33144595	A	G	A33144595G	CRTAP	NM_006371.4(CRTAP):c.*2147A>G	noncoding	Benign
3	33144864	T	C	T33144864C	CRTAP	NM_006371.4(CRTAP):c.*2416T>C	noncoding	Benign
3	33145076	G	A	G33145076A	CRTAP	NM_006371.5(CRTAP):c.*2628G>A	noncoding	Benign
3	33145349	G	C	G33145349C	CRTAP	NM_006371.4(CRTAP):c.*2901G>C	noncoding	Benign
3	33145453	G	A	G33145453A	CRTAP	NM_006371.4(CRTAP):c.*3005G>A	noncoding	Benign
3	33145590	G	A	G33145590A	CRTAP	NM_006371.4(CRTAP):c.*3142G>A	noncoding	Benign
3	33145593	A	G	A33145593G	CRTAP	NM_006371.4(CRTAP):c.*3145A>G	noncoding	Benign
3	33145691	A	C	A33145691C	CRTAP	NM_006371.4(CRTAP):c.*3243A>C	noncoding	Benign
3	33145912	A	C	A33145912C	CRTAP	NM_006371.4(CRTAP):c.*3464A>C	noncoding	Benign
3	33145933	G	A	G33145933A	CRTAP	NM_006371.4(CRTAP):c.*3485G>A	noncoding	Benign
3	33146241	C	T	C33146241T	CRTAP	NM_006371.4(CRTAP):c.*3793C>T	noncoding	Benign
3	33146339	C	T	C33146339T	CRTAP	NM_006371.4(CRTAP):c.*3891C>T	noncoding	Benign
3	33146397	C	T	C33146397T	CRTAP	NM_006371.4(CRTAP):c.*3949C>T	noncoding	Benign
3	33146704	A	G	A33146704G	CRTAP	NM_006371.4(CRTAP):c.*4256A>G	noncoding	Benign
3	33147071	A	C	A33147071C	CRTAP	NM_006371.5(CRTAP):c.*4623A>C	noncoding	Benign
3	33147222	C	T	C33147222T	CRTAP	NM_006371.4(CRTAP):c.*4774C>T	noncoding	Benign
3	33594977	G	A	G33594977A	CLASP2	NM_015097.3(CLASP2):c.1952-9C>T	noncoding	Benign
3	33603076	A	G	A33603076G	CLASP2	NM_015097.3(CLASP2):c.1803T>C:p.Arg601=	coding	Benign
3	33606653	A	G	A33606653G	CLASP2	NM_015097.3(CLASP2):c.1635T>C:p.Ser545=	coding	Benign
3	33684374	C	T	C33684374T	CLASP2	NM_015097.3(CLASP2):c.629G>A:p.Gly210Glu	coding	Benign
3	33717832	G	A	G33717832A	CLASP2	NM_015097.3(CLASP2):c.171C>T:p.Gly57=	coding	Benign
3	33842000	G	A	G33842000A	PDCD6IP	NM_013374.6(PDCD6IP):c.1285G>A:p.Gly429Ser	coding	Benign
3	33865245	T	C	T33865245C	PDCD6IP	NM_013374.6(PDCD6IP):c.2247T>C:p.Pro749=	coding	Benign
3	33865331	G	C	G33865331C	PDCD6IP	NM_013374.6(PDCD6IP):c.2333G>C:p.Gly778Ala	coding	Benign
3	33865365	G	A	G33865365A	PDCD6IP	NM_013374.6(PDCD6IP):c.2367G>A:p.Thr789=	coding	Benign
3	36380681	A	C	A36380681C	STAC	NM_003149.2(STAC):c.38A>C:p.Asp13Ala	coding	Benign
3	36504411	A	G	A36504411G	STAC	NM_003149.2(STAC):c.785A>G:p.Asn262Ser	coding	Benign
3	36988684	C	A	C36988684A	MLH1	NM_014805.4(EPM2AIP1):c.*2570G>T	noncoding	Benign
3	36992693	G	A	G36992693A	EPM2AIP1	NM_014805.4(EPM2AIP1):c.385C>T:p.Leu129=	coding	Benign
3	36993455	G	A	G36993455A	MLH1	NM_000249.3(MLH1):c.-93G>A	noncoding	Benign
3	36993521	C	A	C36993521A	MLH1	NM_000249.3(MLH1):c.-27C>A	noncoding	Pathogenic/Likely_pathogenic
3	36993548	A	G	A36993548G	MLH1	NM_000249.3(MLH1):c.1A>G:p.Met1Val	coding	Pathogenic
3	36993549	T	A	T36993549A	MLH1	NM_000249.3(MLH1):c.2T>A:p.Met1Lys	coding	Pathogenic
3	36993549	T	C	T36993549C	MLH1	NM_000249.3(MLH1):c.2T>C:p.Met1Thr	coding	Pathogenic
3	36993549	T	G	T36993549G	MLH1	NM_000249.3(MLH1):c.2T>G:p.Met1Arg	coding	Pathogenic
3	36993550	G	A	G36993550A	MLH1	NM_000249.3(MLH1):c.3G>A:p.Met1Ile	coding	Pathogenic
3	36993552	C	A	C36993552A	MLH1	NM_000249.3(MLH1):c.5C>A:p.Ser2Ter	coding	Pathogenic
3	36993571	T	A	T36993571A	MLH1	NM_000249.3(MLH1):c.24T>A:p.Ile8=	coding	Benign/Likely_benign
3	36993584	G	T	G36993584T	MLH1	NM_000249.3(MLH1):c.37G>T:p.Glu13Ter	coding	Pathogenic
3	36993602	A	T	A36993602T	MLH1	NM_000249.3(MLH1):c.55A>T:p.Ile19Phe	coding	Pathogenic
3	36993609	C	A	C36993609A	MLH1	NM_000249.3(MLH1):c.62C>A:p.Ala21Glu	coding	Pathogenic
3	36993609	C	T	C36993609T	MLH1	NM_000249.3(MLH1):c.62C>T:p.Ala21Val	coding	Pathogenic
3	36993612	G	C	G36993612C	MLH1	NM_000249.4(MLH1):c.65G>C:p.Gly22Ala	coding	Benign
3	36993614	G	T	G36993614T	MLH1	NM_000249.3(MLH1):c.67G>T:p.Glu23Ter	coding	Pathogenic
3	36993623	C	T	C36993623T	MLH1	NM_000249.3(MLH1):c.76C>T:p.Gln26Ter	coding	Pathogenic
3	36993630	C	T	C36993630T	MLH1	NM_000249.3(MLH1):c.83C>T:p.Pro28Leu	coding	Pathogenic
3	36993633	C	G	C36993633G	MLH1	NM_000249.3(MLH1):c.86C>G:p.Ala29Gly	coding	Pathogenic
3	36993651	T	G	T36993651G	MLH1	NM_000249.3(MLH1):c.104T>G:p.Met35Arg	coding	Pathogenic
3	36993656	G	T	G36993656T	MLH1	NM_000249.3(MLH1):c.109G>T:p.Glu37Ter	coding	Pathogenic
3	36993659	A	C	A36993659C	MLH1	NM_000249.3(MLH1):c.112A>C:p.Asn38His	coding	Pathogenic
3	36993660	A	C	A36993660C	MLH1	NM_000249.3(MLH1):c.113A>C:p.Asn38Thr	coding	Pathogenic
3	36993660	A	G	A36993660G	MLH1	NM_000249.3(MLH1):c.113A>G:p.Asn38Ser	coding	Pathogenic
3	36993661	C	G	C36993661G	MLH1	NM_000249.3(MLH1):c.114C>G:p.Asn38Lys	coding	Pathogenic
3	36993668	G	C	G36993668C	MLH1	NM_000249.3(MLH1):c.116+5G>C	noncoding	Pathogenic
3	36993677	C	G	C36993677G	MLH1	NM_000249.3(MLH1):c.116+14C>G	noncoding	Benign/Likely_benign
3	36993883	T	G	T36993883G	MLH1	NM_000249.3(MLH1):c.116+220T>G	coding	Benign
3	36996617	A	G	A36996617G	MLH1	NM_000249.3(MLH1):c.117-2A>G	noncoding	Pathogenic
3	36996618	G	A	G36996618A	MLH1	NM_000249.3(MLH1):c.117-1G>A	noncoding	Pathogenic
3	36996623	G	C	G36996623C	MLH1	NM_000249.3(MLH1):c.121G>C:p.Asp41His	coding	Pathogenic
3	36996624	A	G	A36996624G	MLH1	NM_000249.3(MLH1):c.122A>G:p.Asp41Gly	coding	Pathogenic
3	36996629	A	T	A36996629T	MLH1	NM_000249.4(MLH1):c.127A>T:p.Lys43Ter	coding	Pathogenic
3	36996633	C	A	C36996633A	MLH1	NM_000249.3(MLH1):c.131C>A:p.Ser44Tyr	coding	Pathogenic
3	36996633	C	T	C36996633T	MLH1	NM_000249.3(MLH1):c.131C>T:p.Ser44Phe	coding	Pathogenic
3	36996644	C	T	C36996644T	MLH1	NM_000249.3(MLH1):c.142C>T:p.Gln48Ter	coding	Pathogenic
3	36996648	T	A	T36996648A	MLH1	NM_000249.3(MLH1):c.146T>A:p.Val49Glu	coding	Pathogenic
3	36996680	C	T	C36996680T	MLH1	NM_000249.4(MLH1):c.178C>T:p.Gln60Ter	coding	Pathogenic
3	36996686	C	T	C36996686T	MLH1	NM_000249.3(MLH1):c.184C>T:p.Gln62Ter	coding	Pathogenic
3	36996689	G	A	G36996689A	MLH1	NM_000249.3(MLH1):c.187G>A:p.Asp63Asn	coding	Pathogenic/Likely_pathogenic
3	36996691	C	A	C36996691A	MLH1	NM_000249.3(MLH1):c.189C>A:p.Asp63Glu	coding	Pathogenic
3	36996701	G	A	G36996701A	MLH1	NM_000249.4(MLH1):c.199G>A:p.Gly67Arg	coding	Pathogenic
3	36996701	G	C	G36996701C	MLH1	NM_000249.3(MLH1):c.199G>C:p.Gly67Arg	coding	Pathogenic
3	36996701	G	T	G36996701T	MLH1	NM_000249.3(MLH1):c.199G>T:p.Gly67Trp	coding	Pathogenic
3	36996702	G	A	G36996702A	MLH1	NM_000249.3(MLH1):c.200G>A:p.Gly67Glu	coding	Pathogenic
3	36996711	T	G	T36996711G	MLH1	NM_000249.3(MLH1):c.207+2T>G	noncoding	Pathogenic
3	36996714	G	C	G36996714C	MLH1	NM_000249.3(MLH1):c.207+5G>C	noncoding	Pathogenic/Likely_pathogenic
3	36996721	C	T	C36996721T	MLH1	NM_000249.3(MLH1):c.207+12C>T	noncoding	Benign/Likely_benign
3	36997280	C	T	C36997280T	MLH1	NM_000249.3(MLH1):c.207+571C>T	coding	Benign
3	36997288	C	G	C36997288G	MLH1	NM_000249.3(MLH1):c.207+579C>G	coding	Benign
3	37000953	A	C	A37000953C	MLH1	NM_000249.3(MLH1):c.208-2A>C	noncoding	Pathogenic
3	37000953	A	G	A37000953G	MLH1	NM_000249.3(MLH1):c.208-2A>G	noncoding	Pathogenic
3	37000954	G	A	G37000954A	MLH1	NM_000249.3(MLH1):c.208-1G>A	noncoding	Pathogenic
3	37000958	G	T	G37000958T	MLH1	NM_000249.3(MLH1):c.211G>T:p.Glu71Ter	coding	Pathogenic
3	37000976	T	C	T37000976C	MLH1	NM_000249.3(MLH1):c.229T>C:p.Cys77Arg	coding	Pathogenic
3	37000977	G	A	G37000977A	MLH1	NM_000249.3(MLH1):c.230G>A:p.Cys77Tyr	coding	Pathogenic
3	37000992	C	T	C37000992T	MLH1	NM_000249.3(MLH1):c.245C>T:p.Thr82Ile	coding	Pathogenic
3	37001003	C	T	C37001003T	MLH1	NM_000249.3(MLH1):c.256C>T:p.Gln86Ter	coding	Pathogenic
3	37001012	G	T	G37001012T	MLH1	NM_000249.3(MLH1):c.265G>T:p.Glu89Ter	coding	Pathogenic
3	37001019	T	G	T37001019G	MLH1	NM_000249.3(MLH1):c.272T>G:p.Leu91Ter	coding	Pathogenic
3	37001045	C	T	C37001045T	MLH1	NM_000249.3(MLH1):c.298C>T:p.Arg100Ter	coding	Pathogenic
3	37001046	G	C	G37001046C	MLH1	NM_000249.3(MLH1):c.299G>C:p.Arg100Pro	coding	Pathogenic
3	37001053	G	C	G37001053C	MLH1	NM_000249.3(MLH1):c.306G>C:p.Glu102Asp	coding	Pathogenic
3	37001054	G	A	G37001054A	MLH1	NM_000249.3(MLH1):c.306+1G>A	coding	Pathogenic
3	37001055	T	G	T37001055G	MLH1	NM_000249.3(MLH1):c.306+2T>G	noncoding	Pathogenic
3	37001058	G	A	G37001058A	MLH1	NM_000249.3(MLH1):c.306+5G>A	noncoding	Pathogenic
3	37001469	A	C	A37001469C	MLH1	NM_000249.3(MLH1):c.306+416A>C	noncoding	Benign
3	37002998	A	T	A37002998T	MLH1	NM_000249.3(MLH1):c.307-1403A>T	noncoding	Benign
3	37004372	C	A	C37004372A	MLH1	NM_000249.3(MLH1):c.307-29C>A	noncoding	Benign
3	37004399	A	G	A37004399G	MLH1	NM_000249.3(MLH1):c.307-2A>G	noncoding	Pathogenic/Likely_pathogenic
3	37004414	T	A	T37004414A	MLH1	NM_000249.3(MLH1):c.320T>A:p.Ile107Lys	coding	Pathogenic
3	37004414	T	G	T37004414G	MLH1	NM_000249.3(MLH1):c.320T>G:p.Ile107Arg	coding	Pathogenic
3	37004444	C	T	C37004444T	MLH1	NM_000249.4(MLH1):c.350C>T:p.Thr117Met	coding	Pathogenic
3	37004461	A	T	A37004461T	MLH1	NM_000249.3(MLH1):c.367A>T:p.Lys123Ter	coding	Pathogenic
3	37004472	C	G	C37004472G	MLH1	NM_000249.3(MLH1):c.378C>G:p.Tyr126Ter	coding	Pathogenic
3	37004474	G	A	G37004474A	MLH1	NM_000249.3(MLH1):c.380G>A:p.Arg127Lys	coding	Pathogenic
3	37004475	G	T	G37004475T	MLH1	NM_000249.3(MLH1):c.380+1G>T	coding	Pathogenic
3	37004476	T	A	T37004476A	MLH1	NM_000249.3(MLH1):c.380+2T>A	noncoding	Pathogenic
3	37004594	G	A	G37004594A	MLH1	NM_000249.3(MLH1):c.380+120G>A	noncoding	Benign
3	37006950	A	G	A37006950G	MLH1	NM_000249.3(MLH1):c.381-41A>G	noncoding	Benign
3	37006989	A	T	A37006989T	MLH1	NM_000249.4(MLH1):c.381-2A>T	noncoding	Pathogenic
3	37006990	G	A	G37006990A	MLH1	NM_000249.3(MLH1):c.381-1G>A	noncoding	Pathogenic/Likely_pathogenic
3	37006992	G	C	G37006992C	MLH1	NM_000249.3(MLH1):c.382G>C:p.Ala128Pro	coding	Pathogenic
3	37007000	C	G	C37007000G	MLH1	NM_000249.3(MLH1):c.390C>G:p.Tyr130Ter	coding	Pathogenic
3	37007002	C	A	C37007002A	MLH1	NM_000249.3(MLH1):c.392C>A:p.Ser131Ter	coding	Pathogenic
3	37007002	C	G	C37007002G	MLH1	NM_000249.3(MLH1):c.392C>G:p.Ser131Ter	coding	Pathogenic
3	37007004	G	C	G37007004C	MLH1	NM_000249.4(MLH1):c.394G>C:p.Asp132His	coding	Benign
3	37007007	G	T	G37007007T	MLH1	NM_000249.3(MLH1):c.397G>T:p.Gly133Ter	coding	Pathogenic
3	37007046	C	T	C37007046T	MLH1	NM_000249.3(MLH1):c.436C>T:p.Gln146Ter	coding	Pathogenic
3	37007055	C	T	C37007055T	MLH1	NM_000249.3(MLH1):c.445C>T:p.Gln149Ter	coding	Pathogenic
3	37007064	G	C	G37007064C	MLH1	NM_000249.3(MLH1):c.453+1G>C	coding	Pathogenic
3	37007065	T	C	T37007065C	MLH1	NM_000249.3(MLH1):c.453+2T>C	noncoding	Pathogenic
3	37007065	T	G	T37007065G	MLH1	NM_000249.3(MLH1):c.453+2T>G	noncoding	Pathogenic
3	37007088	A	G	A37007088G	MLH1	NM_000249.3(MLH1):c.453+25A>G	noncoding	Benign
3	37007142	A	G	A37007142G	MLH1	NM_000249.3(MLH1):c.453+79A>G	noncoding	Benign
3	37007251	C	T	C37007251T	MLH1	NM_000249.3(MLH1):c.453+188C>T	noncoding	Benign
3	37007617	C	T	C37007617T	MLH1	NM_000249.3(MLH1):c.453+554C>T	noncoding	Benign
3	37008763	T	C	T37008763C	MLH1	NM_000249.3(MLH1):c.454-51T>C	noncoding	Benign
3	37008813	G	A	G37008813A	MLH1	NM_000249.3(MLH1):c.454-1G>A	noncoding	Pathogenic
3	37008813	G	C	G37008813C	MLH1	NM_000249.3(MLH1):c.454-1G>C	noncoding	Pathogenic/Likely_pathogenic
3	37008824	T	G	T37008824G	MLH1	NM_000249.3(MLH1):c.464T>G:p.Leu155Arg	coding	Pathogenic
3	37008834	C	T	C37008834T	MLH1	NM_000249.3(MLH1):c.474C>T:p.Asn158=	coding	Benign
3	37008847	A	C	A37008847C	MLH1	NM_000249.3(MLH1):c.487A>C:p.Arg163=	coding	Benign/Likely_benign
3	37008857	T	A	T37008857A	MLH1	NM_000249.3(MLH1):c.497T>A:p.Leu166Ter	coding	Pathogenic
3	37008874	G	T	G37008874T	MLH1	NM_000249.4(MLH1):c.514G>T:p.Glu172Ter	coding	Pathogenic
3	37008892	G	T	G37008892T	MLH1	NM_000249.3(MLH1):c.532G>T:p.Glu178Ter	coding	Pathogenic
3	37008903	C	T	C37008903T	MLH1	NM_000249.3(MLH1):c.543C>T:p.Gly181=	coding	Pathogenic
3	37008904	A	G	A37008904G	MLH1	NM_000249.3(MLH1):c.544A>G:p.Arg182Gly	coding	Pathogenic
3	37008905	G	A	G37008905A	MLH1	NM_000249.3(MLH1):c.545G>A:p.Arg182Lys	coding	Pathogenic
3	37008906	G	T	G37008906T	MLH1	NM_000249.3(MLH1):c.545+1G>T	coding	Pathogenic
3	37008907	T	C	T37008907C	MLH1	NM_000249.4(MLH1):c.545+2T>C	noncoding	Pathogenic
3	37008908	A	G	A37008908G	MLH1	NM_000249.3(MLH1):c.545+3A>G	noncoding	Pathogenic
3	37008925	A	T	A37008925T	MLH1	NM_000249.3(MLH1):c.545+20A>T	noncoding	Benign
3	37011629	T	C	T37011629C	MLH1	NM_000249.3(MLH1):c.546-191T>C	noncoding	Benign
3	37011818	A	C	A37011818C	MLH1	NM_000249.3(MLH1):c.546-2A>C	noncoding	Pathogenic
3	37011818	A	G	A37011818G	MLH1	NM_000249.3(MLH1):c.546-2A>G	noncoding	Pathogenic
3	37011818	A	T	A37011818T	MLH1	NM_000249.4(MLH1):c.546-2A>T	noncoding	Pathogenic
3	37011825	C	G	C37011825G	MLH1	NM_000249.3(MLH1):c.551C>G:p.Ser184Ter	coding	Pathogenic
3	37011828	T	G	T37011828G	MLH1	NM_000249.3(MLH1):c.554T>G:p.Val185Gly	coding	Pathogenic
3	37011852	C	G	C37011852G	MLH1	NM_000249.3(MLH1):c.578C>G:p.Ser193Ter	coding	Pathogenic
3	37011853	A	G	A37011853G	MLH1	NM_000249.3(MLH1):c.579A>G:p.Ser193=	coding	Benign/Likely_benign
3	37011857	A	T	A37011857T	MLH1	NM_000249.3(MLH1):c.583A>T:p.Lys195Ter	coding	Pathogenic
3	37011860	A	T	A37011860T	MLH1	NM_000249.3(MLH1):c.586A>T:p.Lys196Ter	coding	Pathogenic
3	37011863	G	T	G37011863T	MLH1	NM_000249.3(MLH1):c.588+1G>T	coding	Pathogenic
3	37011867	G	A	G37011867A	MLH1	NM_000249.3(MLH1):c.588+5G>A	noncoding	Pathogenic
3	37011873	G	C	G37011873C	MLH1	NM_000249.3(MLH1):c.588+11G>C	noncoding	Benign
3	37012009	A	G	A37012009G	MLH1	NM_000249.3(MLH1):c.589-2A>G	noncoding	Pathogenic
3	37012010	G	A	G37012010A	MLH1	NM_000249.4(MLH1):c.589-1G>A	noncoding	Pathogenic
3	37012011	C	T	C37012011T	MLH1	NM_000249.3(MLH1):c.589C>T:p.Gln197Ter	coding	Pathogenic
3	37012059	G	A	G37012059A	MLH1	NM_000249.4(MLH1):c.637G>A:p.Val213Met	coding	Benign
3	37012077	A	C	A37012077C	MLH1	NM_000249.3(MLH1):c.655A>C:p.Ile219Leu	coding	Benign
3	37012077	A	G	A37012077G	MLH1	NM_000249.4(MLH1):c.655A>G:p.Ile219Val	coding	Benign
3	37012098	C	T	C37012098T	MLH1	NM_000249.3(MLH1):c.676C>T:p.Arg226Ter	coding	Pathogenic
3	37012099	G	A	G37012099A	MLH1	NM_000249.4(MLH1):c.677G>A:p.Arg226Gln	coding	Pathogenic
3	37012100	G	T	G37012100T	MLH1	NM_000249.3(MLH1):c.677+1G>T	coding	Pathogenic
3	37012102	A	G	A37012102G	MLH1	NM_000249.3(MLH1):c.677+3A>G	noncoding	Pathogenic
3	37013951	C	T	C37013951T	MLH1	NM_000249.4(MLH1):c.678-481C>T	noncoding	Benign
3	37014430	A	T	A37014430T	MLH1	NM_000249.4(MLH1):c.678-2A>T	noncoding	Pathogenic
3	37014431	G	C	G37014431C	MLH1	NM_000249.3(MLH1):c.678-1G>C	noncoding	Pathogenic
3	37014442	G	T	G37014442T	MLH1	NM_000249.4(MLH1):c.688G>T:p.Glu230Ter	coding	Pathogenic
3	37014453	T	A	T37014453A	MLH1	NM_000249.3(MLH1):c.699T>A:p.Cys233Ter	coding	Pathogenic
3	37014485	G	A	G37014485A	MLH1	NM_000249.3(MLH1):c.731G>A:p.Gly244Asp	coding	Pathogenic
3	37014489	C	A	C37014489A	MLH1	NM_000249.3(MLH1):c.735C>A:p.Tyr245Ter	coding	Pathogenic
3	37014489	C	G	C37014489G	MLH1	NM_000249.3(MLH1):c.735C>G:p.Tyr245Ter	coding	Pathogenic
3	37014493	T	C	T37014493C	MLH1	NM_000249.3(MLH1):c.739T>C:p.Ser247Pro	coding	Pathogenic
3	37014507	C	G	C37014507G	MLH1	NM_000249.3(MLH1):c.753C>G:p.Tyr251Ter	coding	Pathogenic
3	37014509	C	A	C37014509A	MLH1	NM_000249.3(MLH1):c.755C>A:p.Ser252Ter	coding	Pathogenic
3	37014509	C	G	C37014509G	MLH1	NM_000249.4(MLH1):c.755C>G:p.Ser252Ter	coding	Pathogenic
3	37014522	C	A	C37014522A	MLH1	NM_000249.3(MLH1):c.768C>A:p.Cys256Ter	coding	Pathogenic
3	37014533	T	G	T37014533G	MLH1	NM_000249.3(MLH1):c.779T>G:p.Leu260Arg	coding	Pathogenic
3	37014545	G	A	G37014545A	MLH1	NM_000249.3(MLH1):c.790+1G>A	coding	Pathogenic
3	37014546	T	A	T37014546A	MLH1	NM_000249.3(MLH1):c.790+2T>A	noncoding	Pathogenic
3	37014546	T	C	T37014546C	MLH1	NM_000249.3(MLH1):c.790+2T>C	noncoding	Pathogenic
3	37014547	A	T	A37014547T	MLH1	NM_000249.3(MLH1):c.790+3A>T	noncoding	Pathogenic
3	37014548	A	G	A37014548G	MLH1	NM_000249.3(MLH1):c.790+4A>G	noncoding	Pathogenic/Likely_pathogenic
3	37014549	G	A	G37014549A	MLH1	NM_000249.3(MLH1):c.790+5G>A	noncoding	Pathogenic
3	37014549	G	T	G37014549T	MLH1	NM_000249.3(MLH1):c.790+5G>T	noncoding	Pathogenic
3	37014554	A	G	A37014554G	MLH1	NM_000249.3(MLH1):c.790+10A>G	noncoding	Benign
3	37015499	C	A	C37015499A	MLH1	NM_000249.3(MLH1):c.790+955C>A	noncoding	Benign
3	37016100	C	T	C37016100T	MLH1	NM_000249.3(MLH1):c.791-1406C>T	noncoding	Benign
3	37017284	T	G	T37017284G	MLH1	NM_000249.3(MLH1):c.791-222T>G	noncoding	Benign
3	37017501	T	G	T37017501G	MLH1	NM_000249.4(MLH1):c.791-5T>G	noncoding	Pathogenic
3	37017504	A	T	A37017504T	MLH1	NM_000249.3(MLH1):c.791-2A>T	noncoding	Pathogenic
3	37017505	G	A	G37017505A	MLH1	NM_000249.4(MLH1):c.791-1G>A	noncoding	Pathogenic/Likely_pathogenic
3	37017505	G	C	G37017505C	MLH1	NM_000249.3(MLH1):c.791-1G>C	noncoding	Pathogenic
3	37017508	C	A	C37017508A	MLH1	NM_000249.3(MLH1):c.793C>A:p.Arg265Ser	coding	Pathogenic
3	37017508	C	T	C37017508T	MLH1	NM_000249.4(MLH1):c.793C>T:p.Arg265Cys	coding	Pathogenic
3	37017518	A	G	A37017518G	MLH1	NM_000249.4(MLH1):c.803A>G:p.Glu268Gly	coding	Benign
3	37017521	C	G	C37017521G	MLH1	NM_000249.3(MLH1):c.806C>G:p.Ser269Ter	coding	Pathogenic
3	37017530	T	A	T37017530A	MLH1	NM_000249.3(MLH1):c.815T>A:p.Leu272Ter	coding	Pathogenic
3	37017542	T	G	T37017542G	MLH1	NM_000249.3(MLH1):c.827T>G:p.Ile276Arg	coding	Pathogenic
3	37017555	T	A	T37017555A	MLH1	NM_000249.3(MLH1):c.840T>A:p.Tyr280Ter	coding	Pathogenic
3	37017557	C	T	C37017557T	MLH1	NM_000249.3(MLH1):c.842C>T:p.Ala281Val	coding	Pathogenic
3	37017566	T	A	T37017566A	MLH1	NM_000249.3(MLH1):c.851T>A:p.Leu284Ter	coding	Pathogenic
3	37017597	C	T	C37017597T	MLH1	NM_000249.3(MLH1):c.882C>T:p.Leu294=	coding	Pathogenic
3	37017598	A	C	A37017598C	MLH1	NM_000249.3(MLH1):c.883A>C:p.Ser295Arg	coding	Pathogenic
3	37017598	A	G	A37017598G	MLH1	NM_000249.3(MLH1):c.883A>G:p.Ser295Gly	coding	Pathogenic
3	37017599	G	A	G37017599A	MLH1	NM_000249.3(MLH1):c.884G>A:p.Ser295Asn	coding	Pathogenic
3	37017603	A	G	A37017603G	MLH1	NM_000249.3(MLH1):c.884+4A>G	noncoding	Pathogenic
3	37020229	G	C	G37020229C	MLH1	NM_000249.4(MLH1):c.885-81G>C	noncoding	Benign
3	37020309	G	A	G37020309A	MLH1	NM_000249.3(MLH1):c.885-1G>A	noncoding	Pathogenic/Likely_pathogenic
3	37020312	T	G	T37020312G	MLH1	NM_000249.3(MLH1):c.887T>G:p.Leu296Ter	coding	Pathogenic
3	37020314	G	T	G37020314T	MLH1	NM_000249.3(MLH1):c.889G>T:p.Glu297Ter	coding	Pathogenic
3	37020326	C	T	C37020326T	MLH1	NM_000249.4(MLH1):c.901C>T:p.Gln301Ter	coding	Pathogenic
3	37020343	T	A	T37020343A	MLH1	NM_000249.3(MLH1):c.918T>A:p.Asn306Lys	coding	Pathogenic
3	37020379	C	T	C37020379T	MLH1	NM_000249.3(MLH1):c.954C>T:p.His318=	coding	Benign/Likely_benign
3	37020380	G	T	G37020380T	MLH1	NM_000249.3(MLH1):c.955G>T:p.Glu319Ter	coding	Pathogenic
3	37020383	G	T	G37020383T	MLH1	NM_000249.3(MLH1):c.958G>T:p.Glu320Ter	coding	Pathogenic
3	37020395	G	T	G37020395T	MLH1	NM_000249.3(MLH1):c.970G>T:p.Glu324Ter	coding	Pathogenic
3	37020402	T	C	T37020402C	MLH1	NM_000249.4(MLH1):c.977T>C:p.Val326Ala	coding	Benign
3	37020404	C	T	C37020404T	MLH1	NM_000249.3(MLH1):c.979C>T:p.Gln327Ter	coding	Pathogenic
3	37020407	C	T	C37020407T	MLH1	NM_000249.3(MLH1):c.982C>T:p.Gln328Ter	coding	Pathogenic
3	37020411	A	C	A37020411C	MLH1	NM_000249.3(MLH1):c.986A>C:p.His329Pro	coding	Pathogenic
3	37020445	C	G	C37020445G	MLH1	NM_000249.3(MLH1):c.1020C>G:p.Ser340=	coding	Benign/Likely_benign
3	37020454	C	A	C37020454A	MLH1	NM_000249.4(MLH1):c.1029C>A:p.Tyr343Ter	coding	Pathogenic
3	37020462	A	G	A37020462G	MLH1	NM_000249.3(MLH1):c.1037A>G:p.Gln346Arg	coding	Pathogenic
3	37020463	G	A	G37020463A	MLH1	NM_000249.3(MLH1):c.1038G>A:p.Gln346=	coding	Pathogenic
3	37020463	G	C	G37020463C	MLH1	NM_000249.3(MLH1):c.1038G>C:p.Gln346His	coding	Pathogenic
3	37020463	G	T	G37020463T	MLH1	NM_000249.3(MLH1):c.1038G>T:p.Gln346His	coding	Pathogenic
3	37020549	T	C	T37020549C	MLH1	NM_000249.3(MLH1):c.1038+86T>C	noncoding	Benign
3	37021468	G	T	G37021468T	MLH1	NM_000249.3(MLH1):c.1038+1005G>T	noncoding	Benign
3	37025559	A	G	A37025559G	MLH1	NM_000249.3(MLH1):c.1039-78A>G	noncoding	Benign
3	37025602	A	T	A37025602T	MLH1	NM_000249.4(MLH1):c.1039-35A>T	noncoding	Benign
3	37025608	A	T	A37025608T	MLH1	NM_000249.3(MLH1):c.1039-29A>T	noncoding	Benign
3	37025610	T	A	T37025610A	MLH1	NM_000249.3(MLH1):c.1039-27T>A	noncoding	Benign
3	37025611	T	A	T37025611A	MLH1	NM_000249.3(MLH1):c.1039-26T>A	noncoding	Benign
3	37025614	T	A	T37025614A	MLH1	NM_000249.3(MLH1):c.1039-23T>A	noncoding	Benign
3	37025629	T	A	T37025629A	MLH1	NM_000249.4(MLH1):c.1039-8T>A	noncoding	Benign
3	37025635	A	C	A37025635C	MLH1	NM_000249.3(MLH1):c.1039-2A>C	noncoding	Pathogenic
3	37025636	G	A	G37025636A	MLH1	NM_000249.3(MLH1):c.1039-1G>A	noncoding	Pathogenic
3	37025638	C	A	C37025638A	MLH1	NM_000249.4(MLH1):c.1040C>A:p.Thr347Asn	coding	Benign
3	37025648	A	G	A37025648G	MLH1	NM_000249.3(MLH1):c.1050A>G:p.Pro350=	coding	Benign/Likely_benign
3	37025649	G	T	G37025649T	MLH1	NM_000249.3(MLH1):c.1051G>T:p.Gly351Ter	coding	Pathogenic
3	37025679	A	T	A37025679T	MLH1	NM_000249.4(MLH1):c.1081A>T:p.Lys361Ter	coding	Pathogenic
3	37025726	T	C	T37025726C	MLH1	NM_000249.3(MLH1):c.1128T>C:p.Asp376=	coding	Benign
3	37025749	T	A	T37025749A	MLH1	NM_000249.4(MLH1):c.1151T>A:p.Val384Asp	coding	Benign
3	37025766	G	T	G37025766T	MLH1	NM_000249.3(MLH1):c.1168G>T:p.Glu390Ter	coding	Pathogenic
3	37025769	C	T	C37025769T	MLH1	NM_000249.3(MLH1):c.1171C>T:p.Gln391Ter	coding	Pathogenic
3	37025790	C	T	C37025790T	MLH1	NM_000249.3(MLH1):c.1192C>T:p.Gln398Ter	coding	Pathogenic
3	37025815	G	A	G37025815A	MLH1	NM_000249.4(MLH1):c.1217G>A:p.Ser406Asn	coding	Benign
3	37025817	C	T	C37025817T	MLH1	NM_000249.3(MLH1):c.1219C>T:p.Gln407Ter	coding	Pathogenic/Likely_pathogenic
3	37025823	C	T	C37025823T	MLH1	NM_000249.3(MLH1):c.1225C>T:p.Gln409Ter	coding	Pathogenic
3	37025844	A	T	A37025844T	MLH1	NM_000249.3(MLH1):c.1246A>T:p.Lys416Ter	coding	Pathogenic
3	37025874	C	T	C37025874T	MLH1	NM_000249.4(MLH1):c.1276C>T:p.Gln426Ter	coding	Pathogenic
3	37025877	C	T	C37025877T	MLH1	NM_000249.3(MLH1):c.1279C>T:p.Gln427Ter	coding	Pathogenic
3	37025913	G	T	G37025913T	MLH1	NM_000249.3(MLH1):c.1315G>T:p.Glu439Ter	coding	Pathogenic
3	37025919	G	A	G37025919A	MLH1	NM_000249.4(MLH1):c.1321G>A:p.Ala441Thr	coding	Benign
3	37025931	C	T	C37025931T	MLH1	NM_000249.3(MLH1):c.1333C>T:p.Gln445Ter	coding	Pathogenic
3	37025940	G	T	G37025940T	MLH1	NM_000249.4(MLH1):c.1342G>T:p.Glu448Ter	coding	Pathogenic
3	37025974	C	A	C37025974A	MLH1	NM_000249.4(MLH1):c.1376C>A:p.Ser459Ter	coding	Pathogenic
3	37025979	A	T	A37025979T	MLH1	NM_000249.4(MLH1):c.1381A>T:p.Lys461Ter	coding	Pathogenic
3	37026008	G	C	G37026008C	MLH1	NM_000249.3(MLH1):c.1409+1G>C	coding	Pathogenic
3	37026008	G	T	G37026008T	MLH1	NM_000249.3(MLH1):c.1409+1G>T	coding	Pathogenic/Likely_pathogenic
3	37028730	C	T	C37028730T	MLH1	NM_000249.3(MLH1):c.1410-54C>T	noncoding	Benign
3	37028774	T	G	T37028774G	MLH1	NM_000249.3(MLH1):c.1410-10T>G	noncoding	Benign/Likely_benign
3	37028833	C	T	C37028833T	MLH1	NM_000249.3(MLH1):c.1459C>T:p.Arg487Ter	coding	Pathogenic
3	37028836	A	T	A37028836T	MLH1	NM_000249.3(MLH1):c.1462A>T:p.Lys488Ter	coding	Pathogenic
3	37028902	C	T	C37028902T	MLH1	NM_000249.3(MLH1):c.1528C>T:p.Gln510Ter	coding	Pathogenic
3	37028908	G	T	G37028908T	MLH1	NM_000249.3(MLH1):c.1534G>T:p.Glu512Ter	coding	Pathogenic
3	37028920	C	T	C37028920T	MLH1	NM_000249.3(MLH1):c.1546C>T:p.Gln516Ter	coding	Pathogenic
3	37028923	G	T	G37028923T	MLH1	NM_000249.3(MLH1):c.1549G>T:p.Gly517Ter	coding	Pathogenic
3	37028933	G	A	G37028933A	MLH1	NM_000249.3(MLH1):c.1558+1G>A	coding	Pathogenic/Likely_pathogenic
3	37028933	G	T	G37028933T	MLH1	NM_000249.3(MLH1):c.1558+1G>T	coding	Pathogenic
3	37028946	G	A	G37028946A	MLH1	NM_000249.3(MLH1):c.1558+14G>A	noncoding	Benign
3	37031136	A	C	A37031136C	MLH1	NM_000249.3(MLH1):c.1558+2204A>C	noncoding	Benign
3	37033177	A	G	A37033177G	MLH1	NM_000249.3(MLH1):c.1558+4245A>G	noncoding	Benign
3	37040184	A	G	A37040184G	MLH1	NM_000249.3(MLH1):c.1559-2A>G	noncoding	Pathogenic
3	37040184	A	T	A37040184T	MLH1	NM_000249.3(MLH1):c.1559-2A>T	noncoding	Pathogenic
3	37040185	G	T	G37040185T	MLH1	NM_000249.3(MLH1):c.1559-1G>T	noncoding	Pathogenic
3	37040201	T	A	T37040201A	MLH1	NM_000249.3(MLH1):c.1574T>A:p.Leu525Ter	coding	Pathogenic
3	37040217	C	T	C37040217T	MLH1	NM_000249.3(MLH1):c.1590C>T:p.Phe530=	coding	Benign/Likely_benign
3	37040236	C	T	C37040236T	MLH1	NM_000249.3(MLH1):c.1609C>T:p.Gln537Ter	coding	Pathogenic
3	37040240	G	A	G37040240A	MLH1	NM_000249.3(MLH1):c.1613G>A:p.Trp538Ter	coding	Pathogenic
3	37040241	G	A	G37040241A	MLH1	NM_000249.3(MLH1):c.1614G>A:p.Trp538Ter	coding	Pathogenic
3	37040251	C	T	C37040251T	MLH1	NM_000249.3(MLH1):c.1624C>T:p.Gln542Ter	coding	Pathogenic
3	37040267	T	A	T37040267A	MLH1	NM_000249.3(MLH1):c.1640T>A:p.Leu547Ter	coding	Pathogenic
3	37040267	T	G	T37040267G	MLH1	NM_000249.3(MLH1):c.1640T>G:p.Leu547Ter	coding	Pathogenic
3	37040271	C	G	C37040271G	MLH1	NM_000249.3(MLH1):c.1644C>G:p.Tyr548Ter	coding	Pathogenic
3	37040276	T	C	T37040276C	MLH1	NM_000249.3(MLH1):c.1649T>C:p.Leu550Pro	coding	Pathogenic
3	37040279	A	G	A37040279G	MLH1	NM_000249.3(MLH1):c.1652A>G:p.Asn551Ser	coding	Benign
3	37040294	G	A	G37040294A	MLH1	NM_000249.3(MLH1):c.1667G>A:p.Ser556Asn	coding	Pathogenic/Likely_pathogenic
3	37040294	G	T	G37040294T	MLH1	NM_000249.3(MLH1):c.1667G>T:p.Ser556Ile	coding	Pathogenic
3	37040295	G	A	G37040295A	MLH1	NM_000249.3(MLH1):c.1667+1G>A	coding	Pathogenic/Likely_pathogenic
3	37040296	T	C	T37040296C	MLH1	NM_000249.3(MLH1):c.1667+2T>C	noncoding	Pathogenic/Likely_pathogenic
3	37041383	T	C	T37041383C	MLH1	NM_000249.3(MLH1):c.1668-885T>C	noncoding	Benign
3	37042014	C	T	C37042014T	MLH1	NM_000249.3(MLH1):c.1668-254C>T	noncoding	Benign
3	37042083	T	C	T37042083C	MLH1	NM_000249.3(MLH1):c.1668-185T>C	noncoding	Benign
3	37042249	A	G	A37042249G	MLH1	NM_000249.4(MLH1):c.1668-19A>G	noncoding	Benign
3	37042269	G	T	G37042269T	MLH1	NM_000249.3(MLH1):c.1669G>T:p.Glu557Ter	coding	Pathogenic
3	37042272	G	T	G37042272T	MLH1	NM_000249.3(MLH1):c.1672G>T:p.Glu558Ter	coding	Pathogenic
3	37042283	C	G	C37042283G	MLH1	NM_000249.3(MLH1):c.1683C>G:p.Tyr561Ter	coding	Pathogenic
3	37042284	C	T	C37042284T	MLH1	NM_000249.3(MLH1):c.1684C>T:p.Gln562Ter	coding	Pathogenic
3	37042298	T	A	T37042298A	MLH1	NM_000249.3(MLH1):c.1698T>A:p.Tyr566Ter	coding	Pathogenic
3	37042331	G	A	G37042331A	MLH1	NM_000249.3(MLH1):c.1731G>A:p.Ser577=	coding	Pathogenic
3	37042332	G	A	G37042332A	MLH1	NM_000249.3(MLH1):c.1731+1G>A	coding	Pathogenic
3	37042333	T	C	T37042333C	MLH1	NM_000249.3(MLH1):c.1731+2T>C	noncoding	Pathogenic/Likely_pathogenic
3	37042335	A	G	A37042335G	MLH1	NM_000249.3(MLH1):c.1731+4A>G	noncoding	Pathogenic
3	37042336	G	A	G37042336A	MLH1	NM_000249.3(MLH1):c.1731+5G>A	noncoding	Pathogenic
3	37047255	A	T	A37047255T	MLH1	NM_000249.4(MLH1):c.1732-264A>T	noncoding	Pathogenic
3	37047500	T	A	T37047500A	MLH1	NM_000249.3(MLH1):c.1732-19T>A	noncoding	Benign/Likely_benign
3	37047517	A	C	A37047517C	MLH1	NM_000249.3(MLH1):c.1732-2A>C	noncoding	Pathogenic
3	37047517	A	T	A37047517T	MLH1	NM_000249.3(MLH1):c.1732-2A>T	noncoding	Pathogenic
3	37047518	G	A	G37047518A	MLH1	NM_000249.3(MLH1):c.1732-1G>A	noncoding	Pathogenic
3	37047520	A	G	A37047520G	MLH1	NM_000249.4(MLH1):c.1733A>G:p.Glu578Gly	coding	Benign
3	37047532	T	C	T37047532C	MLH1	NM_000249.3(MLH1):c.1745T>C:p.Leu582Pro	coding	Pathogenic
3	37047556	T	G	T37047556G	MLH1	NM_000249.3(MLH1):c.1769T>G:p.Leu590Ter	coding	Pathogenic
3	37047577	G	A	G37047577A	MLH1	NM_000249.3(MLH1):c.1790G>A:p.Trp597Ter	coding	Pathogenic
3	37047578	G	A	G37047578A	MLH1	NM_000249.3(MLH1):c.1791G>A:p.Trp597Ter	coding	Pathogenic
3	37047586	A	G	A37047586G	MLH1	NM_000249.3(MLH1):c.1799A>G:p.Glu600Gly	coding	Benign
3	37047597	A	T	A37047597T	MLH1	NM_000249.3(MLH1):c.1810A>T:p.Lys604Ter	coding	Pathogenic
3	37047639	A	G	A37047639G	MLH1	NM_000249.4(MLH1):c.1852A>G:p.Lys618Glu	coding	Benign/Likely_benign
3	37047639	A	T	A37047639T	MLH1	NM_000249.3(MLH1):c.1852A>T:p.Lys618Ter	coding	Pathogenic
3	37047640	A	C	A37047640C	MLH1	NM_000249.4(MLH1):c.1853A>C:p.Lys618Thr	coding	Benign
3	37047652	T	A	T37047652A	MLH1	NM_000249.3(MLH1):c.1865T>A:p.Leu622His	coding	Pathogenic
3	37047652	T	C	T37047652C	MLH1	NM_000249.3(MLH1):c.1865T>C:p.Leu622Pro	coding	Pathogenic
3	37047662	T	G	T37047662G	MLH1	NM_000249.3(MLH1):c.1875T>G:p.Tyr625Ter	coding	Pathogenic
3	37047670	T	A	T37047670A	MLH1	NM_000249.3(MLH1):c.1883T>A:p.Leu628Ter	coding	Pathogenic
3	37047683	G	A	G37047683A	MLH1	NM_000249.3(MLH1):c.1896G>A:p.Glu632=	coding	Pathogenic
3	37048500	C	G	C37048500G	MLH1	NM_000249.4(MLH1):c.1897-17C>G	noncoding	Benign/Likely_benign
3	37048517	G	T	G37048517T	MLH1	NM_000249.3(MLH1):c.1897G>T:p.Glu633Ter	coding	Pathogenic
3	37048532	G	T	G37048532T	MLH1	NM_000249.3(MLH1):c.1912G>T:p.Gly638Ter	coding	Pathogenic
3	37048562	C	T	C37048562T	MLH1	NM_000249.3(MLH1):c.1942C>T:p.Pro648Ser	coding	Pathogenic
3	37048579	G	T	G37048579T	MLH1	NM_000249.4(MLH1):c.1959G>T:p.Leu653=	coding	Benign
3	37048581	C	T	C37048581T	MLH1	NM_000249.3(MLH1):c.1961C>T:p.Pro654Leu	coding	Pathogenic
3	37048595	C	T	C37048595T	MLH1	NM_000249.3(MLH1):c.1975C>T:p.Arg659Ter	coding	Pathogenic
3	37048596	G	C	G37048596C	MLH1	NM_000249.3(MLH1):c.1976G>C:p.Arg659Pro	coding	Pathogenic
3	37048596	G	T	G37048596T	MLH1	NM_000249.3(MLH1):c.1976G>T:p.Arg659Leu	coding	Pathogenic
3	37048599	T	C	T37048599C	MLH1	NM_000249.3(MLH1):c.1979T>C:p.Leu660Pro	coding	Pathogenic
3	37048609	G	A	G37048609A	MLH1	NM_000249.3(MLH1):c.1989G>A:p.Glu663=	coding	Pathogenic
3	37048609	G	C	G37048609C	MLH1	NM_000249.3(MLH1):c.1989G>C:p.Glu663Asp	coding	Pathogenic
3	37048609	G	T	G37048609T	MLH1	NM_000249.3(MLH1):c.1989G>T:p.Glu663Asp	coding	Pathogenic
3	37048610	G	A	G37048610A	MLH1	NM_000249.3(MLH1):c.1989+1G>A	coding	Pathogenic
3	37048610	G	T	G37048610T	MLH1	NM_000249.3(MLH1):c.1989+1G>T	coding	Pathogenic
3	37048614	G	C	G37048614C	MLH1	NM_000249.3(MLH1):c.1989+5G>C	noncoding	Pathogenic/Likely_pathogenic
3	37048783	C	T	C37048783T	MLH1	NM_000249.3(MLH1):c.1990-121C>T	noncoding	Benign
3	37048902	A	G	A37048902G	MLH1	NM_000249.3(MLH1):c.1990-2A>G	noncoding	Pathogenic
3	37048903	G	A	G37048903A	MLH1	NM_000249.3(MLH1):c.1990-1G>A	noncoding	Pathogenic
3	37048903	G	C	G37048903C	MLH1	NM_000249.3(MLH1):c.1990-1G>C	noncoding	Pathogenic/Likely_pathogenic
3	37048911	G	A	G37048911A	MLH1	NM_000249.3(MLH1):c.1997G>A:p.Trp666Ter	coding	Pathogenic
3	37048912	G	A	G37048912A	MLH1	NM_000249.3(MLH1):c.1998G>A:p.Trp666Ter	coding	Pathogenic
3	37048925	G	T	G37048925T	MLH1	NM_000249.3(MLH1):c.2011G>T:p.Glu671Ter	coding	Pathogenic
3	37048946	A	T	A37048946T	MLH1	NM_000249.3(MLH1):c.2032A>T:p.Lys678Ter	coding	Pathogenic/Likely_pathogenic
3	37048949	G	T	G37048949T	MLH1	NM_000249.3(MLH1):c.2035G>T:p.Glu679Ter	coding	Pathogenic
3	37048954	C	A	C37048954A	MLH1	NM_000249.3(MLH1):c.2040C>A:p.Cys680Ter	coding	Pathogenic
3	37048955	G	A	G37048955A	MLH1	NM_000249.3(MLH1):c.2041G>A:p.Ala681Thr	coding	Pathogenic
3	37048973	C	T	C37048973T	MLH1	NM_000249.3(MLH1):c.2059C>T:p.Arg687Trp	coding	Pathogenic
3	37048979	C	T	C37048979T	MLH1	NM_000249.4(MLH1):c.2065C>T:p.Gln689Ter	coding	Pathogenic
3	37048980	A	G	A37048980G	MLH1	NM_000249.4(MLH1):c.2066A>G:p.Gln689Arg	coding	Benign
3	37048984	C	A	C37048984A	MLH1	NM_000249.3(MLH1):c.2070C>A:p.Tyr690Ter	coding	Pathogenic
3	37048984	C	G	C37048984G	MLH1	NM_000249.3(MLH1):c.2070C>G:p.Tyr690Ter	coding	Pathogenic
3	37048988	T	C	T37048988C	MLH1	NM_000249.3(MLH1):c.2074T>C:p.Ser692Pro	coding	Benign
3	37048998	C	A	C37048998A	MLH1	NM_000249.3(MLH1):c.2084C>A:p.Ser695Ter	coding	Pathogenic
3	37049007	C	G	C37049007G	MLH1	NM_000249.3(MLH1):c.2093C>G:p.Ser698Ter	coding	Pathogenic
3	37049012	C	T	C37049012T	MLH1	NM_000249.3(MLH1):c.2098C>T:p.Gln700Ter	coding	Pathogenic
3	37049015	C	T	C37049015T	MLH1	NM_000249.3(MLH1):c.2101C>T:p.Gln701Ter	coding	Pathogenic
3	37049017	G	C	G37049017C	MLH1	NM_000249.3(MLH1):c.2103G>C:p.Gln701His	coding	Pathogenic
3	37049018	G	A	G37049018A	MLH1	NM_000249.3(MLH1):c.2103+1G>A	coding	Pathogenic
3	37050467	C	T	C37050467T	MLH1	NM_000249.3(MLH1):c.2104-19C>T	noncoding	Benign/Likely_benign
3	37050475	G	A	G37050475A	MLH1	NM_000249.3(MLH1):c.2104-11G>A	noncoding	Benign/Likely_benign
3	37050484	A	T	A37050484T	MLH1	NM_000249.3(MLH1):c.2104-2A>T	noncoding	Pathogenic
3	37050517	G	A	G37050517A	MLH1	NM_000249.3(MLH1):c.2135G>A:p.Trp712Ter	coding	Pathogenic
3	37050518	G	A	G37050518A	MLH1	NM_000249.3(MLH1):c.2136G>A:p.Trp712Ter	coding	Pathogenic
3	37050523	G	A	G37050523A	MLH1	NM_000249.3(MLH1):c.2141G>A:p.Trp714Ter	coding	Pathogenic
3	37050524	G	A	G37050524A	MLH1	NM_000249.3(MLH1):c.2142G>A:p.Trp714Ter	coding	Pathogenic
3	37050528	G	A	G37050528A	MLH1	NM_001167617.2(MLH1):c.1852G>A:p.Val618Met	coding	Benign
3	37050534	C	T	C37050534T	MLH1	NM_000249.4(MLH1):c.2152C>T:p.His718Tyr	coding	Benign
3	37050545	T	A	T37050545A	MLH1	NM_000249.3(MLH1):c.2163T>A:p.Tyr721Ter	coding	Pathogenic
3	37050576	A	T	A37050576T	MLH1	NM_000249.3(MLH1):c.2194A>T:p.Lys732Ter	coding	Pathogenic
3	37050588	G	T	G37050588T	MLH1	NM_000249.3(MLH1):c.2206G>T:p.Glu736Ter	coding	Pathogenic
3	37050594	G	T	G37050594T	MLH1	NM_000249.3(MLH1):c.2212G>T:p.Gly738Ter	coding	Pathogenic
3	37050606	C	T	C37050606T	MLH1	NM_000249.3(MLH1):c.2224C>T:p.Gln742Ter	coding	Pathogenic
3	37050628	T	C	T37050628C	MLH1	NM_000249.3(MLH1):c.2246T>C:p.Leu749Pro	coding	Pathogenic
3	37050645	A	G	A37050645G	MLH1	NM_000249.3(MLH1):c.2263A>G:p.Arg755Gly	coding	Pathogenic
3	37050653	A	C	A37050653C	MLH1	NM_000249.4(MLH1):c.2271A>C:p.Ter757Tyr	coding	Pathogenic
3	37053579	C	T	C37053579T	MLH1	NM_006309.4(LRRFIP2):c.*272G>A	noncoding	Benign
3	37058868	A	C	A37058868C	LRRFIP2	NM_006309.4(LRRFIP2):c.1792T>G:p.Cys598Gly	coding	Benign
3	37102931	A	G	A37102931G	LRRFIP2	NM_006309.4(LRRFIP2):c.866T>C:p.Leu289Ser	coding	Benign
3	37281968	C	T	C37281968T	GOLGA4	NM_001172713.2(GOLGA4):c.239C>T:p.Thr80Ile	coding	Benign
3	37323682	A	T	A37323682T	GOLGA4	NM_001172713.2(GOLGA4):c.1862A>T:p.Asn621Ile	coding	Benign
3	37326541	A	G	A37326541G	GOLGA4	NM_001172713.2(GOLGA4):c.4721A>G:p.Asn1574Ser	coding	Benign
3	37327668	C	G	C37327668G	GOLGA4	NM_001172713.2(GOLGA4):c.5848C>G:p.Leu1950Val	coding	Benign
3	37329075	A	T	A37329075T	GOLGA4	NM_001172713.2(GOLGA4):c.6240A>T:p.Arg2080Ser	coding	Benign
3	37337743	C	T	C37337743T	GOLGA4	NM_001172713.2(GOLGA4):c.6441+9C>T	noncoding	Benign
3	37471115	C	A	C37471115A	ITGA9	NM_002207.3(ITGA9):c.294C>A:p.Thr98=	coding	Benign
3	37494493	C	G	C37494493G	ITGA9	NM_002207.3(ITGA9):c.545-8C>G	noncoding	Benign
3	37494565	C	T	C37494565T	ITGA9	NM_002207.3(ITGA9):c.609C>T:p.Thr203=	coding	Benign
3	37506010	G	A	G37506010A	ITGA9	NM_002207.3(ITGA9):c.753G>A:p.Val251=	coding	Benign
3	37508677	T	A	T37508677A	ITGA9	NM_002207.3(ITGA9):c.897+50T>A	noncoding	Benign
3	37533460	G	A	G37533460A	ITGA9	NM_002207.3(ITGA9):c.1520G>A:p.Gly507Glu	coding	Benign
3	37542558	G	A	G37542558A	ITGA9	NM_002207.3(ITGA9):c.1662G>A:p.Thr554=	coding	Benign
3	37542595	C	T	C37542595T	ITGA9	NM_002207.3(ITGA9):c.1689+10C>T	noncoding	Benign
3	37629385	G	C	G37629385C	ITGA9	NM_002207.3(ITGA9):c.1839+49G>C	noncoding	Benign
3	37732734	A	G	A37732734G	ITGA9	NM_002207.3(ITGA9):c.2090A>G:p.Glu697Gly	coding	Benign
3	37777549	G	A	G37777549A	ITGA9	NM_002207.3(ITGA9):c.2667+32G>A	noncoding	Benign
3	37779975	G	A	G37779975A	ITGA9	NM_002207.3(ITGA9):c.2741G>A:p.Arg914His	coding	Benign
3	37803900	G	A	G37803900A	ITGA9	NM_002207.3(ITGA9):c.2967G>A:p.Val989=	coding	Benign
3	37803927	C	T	C37803927T	ITGA9	NM_002207.3(ITGA9):c.2994C>T:p.Ala998=	coding	Benign
3	38006990	G	A	G38006990A	VILL	NM_015873.3(VILL):c.2506G>A:p.Glu836Lys	coding	Benign
3	38008506	G	A	G38008506A	PLCD1	NM_006225.4(PLCD1):c.1854C>T:p.Arg618=	coding	Benign
3	38009108	C	T	C38009108T	PLCD1	NM_006225.4(PLCD1):c.1657G>A:p.Ala553Thr	coding	Pathogenic
3	38009324	G	A	G38009324A	PLCD1	NM_006225.4(PLCD1):c.1554C>T:p.Tyr518=	coding	Benign
3	38009716	G	A	G38009716A	PLCD1	NM_006225.4(PLCD1):c.1383C>T:p.Asp461=	coding	Benign
3	38009945	G	A	G38009945A	PLCD1	NM_006225.4(PLCD1):c.1246C>T:p.Arg416Ter	coding	Pathogenic
3	38010458	C	T	C38010458T	PLCD1	NM_006225.4(PLCD1):c.895G>A:p.Gly299Ser	coding	Benign
3	38010476	G	A	G38010476A	PLCD1	NM_006225.4(PLCD1):c.877C>T:p.Arg293Cys	coding	Benign
3	38011269	C	T	C38011269T	PLCD1	NM_006225.4(PLCD1):c.735G>A:p.Ala245=	coding	Benign
3	38011338	C	T	C38011338T	PLCD1	NM_006225.4(PLCD1):c.666G>A:p.Ala222=	coding	Benign
3	38011442	A	G	A38011442G	PLCD1	NM_006225.4(PLCD1):c.562T>C:p.Cys188Arg	coding	Pathogenic
3	38045674	C	T	C38045674T	DLEC1	NM_007335.4(DLEC1):c.543C>T:p.Ser181=	coding	Benign
3	38059754	C	T	C38059754T	DLEC1	NM_007335.4(DLEC1):c.575C>T:p.Ser192Phe	coding	Benign
3	38063875	C	G	C38063875G	DLEC1	NM_007335.4(DLEC1):c.1129C>G:p.Pro377Ala	coding	Benign
3	38084169	G	A	G38084169A	DLEC1	NM_007335.4(DLEC1):c.1185G>A:p.Ala395=	coding	Benign
3	38096578	G	A	G38096578A	DLEC1	NM_007335.4(DLEC1):c.2181G>A:p.Ala727=	coding	Benign
3	38097791	C	T	C38097791T	DLEC1	NM_007335.4(DLEC1):c.2613C>T:p.Leu871=	coding	Benign
3	38097833	C	T	C38097833T	DLEC1	NM_007335.4(DLEC1):c.2655C>T:p.Asn885=	coding	Benign
3	38108452	A	T	A38108452T	DLEC1	NM_007335.4(DLEC1):c.3066A>T:p.Lys1022Asn	coding	Benign
3	38111681	A	G	A38111681G	DLEC1	NM_007335.4(DLEC1):c.3448A>G:p.Asn1150Asp	coding	Benign
3	38112369	T	C	T38112369C	DLEC1	NM_007335.4(DLEC1):c.3666+8T>C	noncoding	Benign
3	38114355	T	C	T38114355C	DLEC1	NM_007335.4(DLEC1):c.3680T>C:p.Leu1227Pro	coding	Benign
3	38115001	C	T	C38115001T	DLEC1	NM_007335.4(DLEC1):c.3804C>T:p.Ser1268=	coding	Benign
3	38121775	C	T	C38121775T	DLEC1	NM_007335.4(DLEC1):c.5014C>T:p.Leu1672=	coding	Benign
3	38138736	C	G	C38138736G	MYD88	NM_002468.5(MYD88):c.36C>G:p.Ala12=	coding	Benign
3	38138780	T	C	T38138780C	MYD88	NM_002468.5(MYD88):c.80T>C:p.Met27Thr	coding	Benign
3	38138961	C	T	C38138961T	MYD88	NM_002468.5(MYD88):c.261C>T:p.Gly87=	coding	Benign
3	38138970	C	G	C38138970G	MYD88	NM_002468.5(MYD88):c.270C>G:p.Leu90=	coding	Benign
3	38138978	T	C	T38138978C	MYD88	NM_002468.5(MYD88):c.278T>C:p.Leu93Pro	coding	Pathogenic
3	38140503	G	A	G38140503A	MYD88	NM_002468.5(MYD88):c.579G>A:p.Val193=	coding	Benign
3	38140510	C	T	C38140510T	MYD88	NM_002468.5(MYD88):c.586C>T:p.Arg196Cys	coding	Pathogenic
3	38140528	A	C	A38140528C	MYD88	NM_002468.5(MYD88):c.604A>C:p.Thr202Pro	coding	Benign
3	38140571	T	C	T38140571C	MYD88	NM_002468.5(MYD88):c.644+3T>C	coding	Benign
3	38306349	C	A	C38306349A	SLC22A14	NM_004803.4(SLC22A14):c.323C>A:p.Pro108His	coding	Benign
3	38307558	A	C	A38307558C	SLC22A14	NM_004803.4(SLC22A14):c.621-8A>C	noncoding	Benign
3	38307717	T	C	T38307717C	SLC22A14	NM_004803.4(SLC22A14):c.772T>C:p.Leu258=	coding	Benign
3	38315684	C	T	C38315684T	SLC22A14	NM_004803.4(SLC22A14):c.1505C>T:p.Thr502Ile	coding	Benign
3	38365626	G	A	G38365626A	XYLB	NM_005108.4(XYLB):c.397G>A:p.Asp133Asn	coding	Benign
3	38376154	A	G	A38376154G	XYLB	NM_005108.4(XYLB):c.1042A>G:p.Asn348Asp	coding	Benign
3	38477353	G	A	G38477353A	ACVR2B	NM_001106.4(ACVR2B):c.119G>A:p.Arg40His	coding	Benign/Likely_benign
3	38477381	C	T	C38477381T	ACVR2B	NM_001106.4(ACVR2B):c.147C>T:p.Cys49=	coding	Benign
3	38477933	A	G	A38477933G	ACVR2B	NM_001106.4(ACVR2B):c.333A>G:p.Glu111=	coding	Benign
3	38478523	G	A	G38478523A	ACVR2B	NM_001106.4(ACVR2B):c.666+5G>A	noncoding	Benign
3	38479665	T	C	T38479665C	ACVR2B	NM_001106.4(ACVR2B):c.811-13T>C	noncoding	Benign
3	38479666	G	A	G38479666A	ACVR2B	NM_001106.4(ACVR2B):c.811-12G>A	noncoding	Benign/Likely_benign
3	38481384	C	T	C38481384T	ACVR2B	NM_001106.4(ACVR2B):c.993C>T:p.Ser331=	coding	Benign
3	38482193	C	T	C38482193T	ACVR2B	NM_001106.4(ACVR2B):c.1075-5C>T	noncoding	Benign/Likely_benign
3	38482263	C	T	C38482263T	ACVR2B	NM_001106.4(ACVR2B):c.1140C>T:p.Ala380=	coding	Benign
3	38482567	G	T	G38482567T	ACVR2B	NM_001106.4(ACVR2B):c.1344+7G>T	noncoding	Benign
3	38483237	C	T	C38483237T	ACVR2B	NM_001106.4(ACVR2B):c.1444C>T:p.Arg482Trp	coding	Benign/Likely_benign
3	38483245	G	A	G38483245A	ACVR2B	NM_001106.4(ACVR2B):c.1452G>A:p.Ser484=	coding	Benign/Likely_benign
3	38483251	C	T	C38483251T	ACVR2B	NM_001106.4(ACVR2B):c.1458C>T:p.Asn486=	coding	Benign
3	38483273	G	A	G38483273A	ACVR2B	NM_001106.4(ACVR2B):c.1480G>A:p.Val494Ile	coding	Pathogenic
3	38483347	T	C	T38483347C	ACVR2B	NM_001106.4(ACVR2B):c.*15T>C	noncoding	Benign
3	38483419	A	G	A38483419G	ACVR2B	NM_001106.4(ACVR2B):c.*87A>G	noncoding	Benign
3	38483465	A	T	A38483465T	ACVR2B	NM_001106.4(ACVR2B):c.*133A>T	noncoding	Benign
3	38483536	C	T	C38483536T	ACVR2B	NM_001106.4(ACVR2B):c.*204C>T	noncoding	Benign
3	38483670	C	G	C38483670G	ACVR2B	NM_001106.4(ACVR2B):c.*338C>G	noncoding	Benign
3	38483726	G	A	G38483726A	ACVR2B	NM_001106.4(ACVR2B):c.*394G>A	noncoding	Benign
3	38483752	A	G	A38483752G	ACVR2B	NM_001106.4(ACVR2B):c.*420A>G	noncoding	Benign
3	38483759	C	G	C38483759G	ACVR2B	NM_001106.4(ACVR2B):c.*427C>G	noncoding	Benign
3	38483808	C	T	C38483808T	ACVR2B	NM_001106.4(ACVR2B):c.*476C>T	noncoding	Benign
3	38483815	C	T	C38483815T	ACVR2B	NM_001106.4(ACVR2B):c.*483C>T	noncoding	Benign
3	38483833	G	C	G38483833C	ACVR2B	NM_001106.4(ACVR2B):c.*501G>C	noncoding	Benign
3	38483924	C	T	C38483924T	ACVR2B	NM_001106.4(ACVR2B):c.*592C>T	noncoding	Benign
3	38484076	T	C	T38484076C	ACVR2B	NM_001106.4(ACVR2B):c.*744T>C	noncoding	Benign
3	38484097	G	A	G38484097A	ACVR2B	NM_001106.4(ACVR2B):c.*765G>A	noncoding	Benign
3	38484243	C	T	C38484243T	ACVR2B	NM_001106.4(ACVR2B):c.*911C>T	noncoding	Benign
3	38484373	A	C	A38484373C	ACVR2B	NM_001106.4(ACVR2B):c.*1041A>C	noncoding	Benign
3	38484374	G	A	G38484374A	ACVR2B	NM_001106.4(ACVR2B):c.*1042G>A	noncoding	Benign
3	38484707	C	T	C38484707T	ACVR2B	NM_001106.4(ACVR2B):c.*1375C>T	noncoding	Benign
3	38484708	G	A	G38484708A	ACVR2B	NM_001106.4(ACVR2B):c.*1376G>A	noncoding	Benign
3	38484761	C	T	C38484761T	ACVR2B	NM_001106.4(ACVR2B):c.*1429C>T	noncoding	Benign
3	38485223	G	C	G38485223C	ACVR2B	NM_001106.4(ACVR2B):c.*1891G>C	noncoding	Benign
3	38485289	T	G	T38485289G	ACVR2B	NM_001106.4(ACVR2B):c.*1957T>G	noncoding	Benign
3	38485337	C	T	C38485337T	ACVR2B	NM_001106.4(ACVR2B):c.*2005C>T	noncoding	Benign
3	38485374	C	T	C38485374T	ACVR2B	NM_001106.4(ACVR2B):c.*2042C>T	noncoding	Benign
3	38485612	A	G	A38485612G	ACVR2B	NM_001106.4(ACVR2B):c.*2280A>G	noncoding	Benign
3	38485724	T	C	T38485724C	ACVR2B	NM_001106.4(ACVR2B):c.*2392T>C	noncoding	Benign
3	38485757	G	A	G38485757A	ACVR2B	NM_001106.4(ACVR2B):c.*2425G>A	noncoding	Benign
3	38486232	T	C	T38486232C	ACVR2B	NM_001106.4(ACVR2B):c.*2900T>C	noncoding	Benign
3	38486422	C	T	C38486422T	ACVR2B	NM_001106.4(ACVR2B):c.*3090C>T	noncoding	Benign
3	38486459	G	A	G38486459A	ACVR2B	NM_001106.4(ACVR2B):c.*3127G>A	noncoding	Benign
3	38486501	T	A	T38486501A	ACVR2B	NM_001106.4(ACVR2B):c.*3169T>A	noncoding	Benign
3	38486648	G	A	G38486648A	ACVR2B	NM_001106.4(ACVR2B):c.*3316G>A	noncoding	Benign
3	38486666	G	T	G38486666T	ACVR2B	NM_001106.4(ACVR2B):c.*3334G>T	noncoding	Benign
3	38486902	A	G	A38486902G	ACVR2B	NM_001106.4(ACVR2B):c.*3570A>G	noncoding	Benign
3	38487046	G	T	G38487046T	ACVR2B	NM_001106.4(ACVR2B):c.*3714G>T	noncoding	Benign
3	38487080	G	T	G38487080T	ACVR2B	NM_001106.4(ACVR2B):c.*3748G>T	noncoding	Benign
3	38487288	A	G	A38487288G	ACVR2B	NM_001106.4(ACVR2B):c.*3956A>G	noncoding	Benign
3	38487550	A	G	A38487550G	ACVR2B	NM_001106.4(ACVR2B):c.*4218A>G	noncoding	Benign
3	38487755	A	G	A38487755G	ACVR2B	NM_001106.4(ACVR2B):c.*4423A>G	noncoding	Benign
3	38487949	C	G	C38487949G	ACVR2B	NM_001106.4(ACVR2B):c.*4617C>G	noncoding	Benign
3	38488295	T	A	T38488295A	ACVR2B	NM_001106.4(ACVR2B):c.*4963T>A	noncoding	Benign
3	38488327	C	T	C38488327T	ACVR2B	NM_001106.4(ACVR2B):c.*4995C>T	noncoding	Benign
3	38488334	C	T	C38488334T	ACVR2B	NM_001106.4(ACVR2B):c.*5002C>T	noncoding	Benign
3	38488588	A	G	A38488588G	ACVR2B	NM_001106.4(ACVR2B):c.*5256A>G	noncoding	Benign
3	38489032	A	C	A38489032C	ACVR2B	NM_001106.4(ACVR2B):c.*5700A>C	noncoding	Benign
3	38489233	C	T	C38489233T	ACVR2B	NM_001106.4(ACVR2B):c.*5901C>T	noncoding	Benign
3	38489488	C	T	C38489488T	ACVR2B	NM_001106.4(ACVR2B):c.*6156C>T	noncoding	Benign
3	38489505	A	C	A38489505C	ACVR2B	NM_001106.4(ACVR2B):c.*6173A>C	noncoding	Benign
3	38489720	T	G	T38489720G	ACVR2B	NM_001106.4(ACVR2B):c.*6388T>G	noncoding	Benign
3	38489885	G	A	G38489885A	ACVR2B	NM_001106.4(ACVR2B):c.*6553G>A	noncoding	Benign
3	38489970	C	T	C38489970T	ACVR2B	NM_001106.4(ACVR2B):c.*6638C>T	noncoding	Benign
3	38490280	G	A	G38490280A	ACVR2B	NM_001106.4(ACVR2B):c.*6948G>A	noncoding	Benign
3	38490711	G	A	G38490711A	ACVR2B	NM_001106.4(ACVR2B):c.*7379G>A	noncoding	Benign
3	38490745	T	C	T38490745C	ACVR2B	NM_001106.4(ACVR2B):c.*7413T>C	noncoding	Benign
3	38490951	C	T	C38490951T	ACVR2B	NM_001106.4(ACVR2B):c.*7619C>T	noncoding	Benign
3	38491020	G	A	G38491020A	ACVR2B	NM_001106.4(ACVR2B):c.*7688G>A	noncoding	Benign
3	38491358	C	T	C38491358T	ACVR2B	NM_001106.4(ACVR2B):c.*8026C>T	noncoding	Benign
3	38491473	C	A	C38491473A	ACVR2B	NM_001106.4(ACVR2B):c.*8141C>A	noncoding	Benign
3	38491519	G	A	G38491519A	ACVR2B	NM_001106.4(ACVR2B):c.*8187G>A	noncoding	Benign
3	38491844	A	C	A38491844C	ACVR2B	NM_001106.4(ACVR2B):c.*8512A>C	noncoding	Benign
3	38492651	T	A	T38492651A	ACVR2B	NM_001106.4(ACVR2B):c.*9319T>A	noncoding	Benign
3	38492803	C	T	C38492803T	ACVR2B	NM_001106.4(ACVR2B):c.*9471C>T	noncoding	Benign
3	38548437	C	T	C38548437T	SCN5A	NM_000335.5(SCN5A):c.*1884G>A	noncoding	Benign/Likely_benign
3	38548784	A	G	A38548784G	SCN5A	NM_198056.2(SCN5A):c.*1537T>C	noncoding	Benign/Likely_benign
3	38549037	C	T	C38549037T	SCN5A	NM_000335.5(SCN5A):c.*1284G>A	noncoding	Benign/Likely_benign
3	38549156	G	A	G38549156A	SCN5A	NM_198056.2(SCN5A):c.*1165C>T	noncoding	Benign/Likely_benign
3	38549358	G	A	G38549358A	SCN5A	NM_198056.2(SCN5A):c.*963C>T	noncoding	Benign/Likely_benign
3	38549359	A	T	A38549359T	SCN5A	NM_198056.2(SCN5A):c.*962T>A	noncoding	Benign/Likely_benign
3	38549568	G	A	G38549568A	SCN5A	NM_198056.2(SCN5A):c.*753C>T	noncoding	Benign/Likely_benign
3	38549707	C	T	C38549707T	SCN5A	NM_000335.5(SCN5A):c.*614G>A	noncoding	Benign
3	38550162	G	A	G38550162A	SCN5A	NM_198056.2(SCN5A):c.*159C>T	noncoding	Benign/Likely_benign
3	38550198	T	C	T38550198C	SCN5A	NM_198056.2(SCN5A):c.*123A>G	noncoding	Benign/Likely_benign
3	38550324	C	T	C38550324T	SCN5A	NM_198056.2(SCN5A):c.6048G>A:p.Val2016=	coding	Pathogenic
3	38550366	G	A	G38550366A	SCN5A	NM_198056.2(SCN5A):c.6006C>T:p.Ala2002=	coding	Benign/Likely_benign
3	38550521	C	A	C38550521A	SCN5A	NM_000335.5(SCN5A):c.5848G>T:p.Val1950Leu	coding	Benign/Likely_benign
3	38550528	G	A	G38550528A	SCN5A	NM_000335.5(SCN5A):c.5841C>T:p.Ile1947=	coding	Benign/Likely_benign
3	38550570	G	A	G38550570A	SCN5A	NM_000335.5(SCN5A):c.5799C>T:p.Ser1933=	coding	Benign/Likely_benign
3	38550576	C	T	C38550576T	SCN5A	NM_000335.5(SCN5A):c.5793G>A:p.Ala1931=	coding	Benign/Likely_benign
3	38550660	C	T	C38550660T	SCN5A	NM_198056.2(SCN5A):c.5712G>A:p.Ser1904=	coding	Benign/Likely_benign
3	38550782	C	A	C38550782A	SCN5A	NM_198056.2(SCN5A):c.5590G>T:p.Glu1864Ter	coding	Pathogenic
3	38550915	A	G	A38550915G	SCN5A	NM_000335.5(SCN5A):c.5454T>C:p.Asp1818=	coding	Benign/Likely_benign
3	38550944	C	A	C38550944A	SCN5A	NM_198056.2(SCN5A):c.5428G>T:p.Glu1810Ter	coding	Pathogenic
3	38550986	C	A	C38550986A	SCN5A	NM_198056.2(SCN5A):c.5386G>T:p.Glu1796Ter	coding	Pathogenic
3	38550988	T	C	T38550988C	SCN5A	NM_198056.2(SCN5A):c.5384A>G:p.Tyr1795Cys	coding	Pathogenic
3	38550989	A	G	A38550989G	SCN5A	NM_000335.4(SCN5A):c.5380T>C:p.Tyr1794His	coding	Pathogenic
3	38551022	C	T	C38551022T	SCN5A	NM_000335.5(SCN5A):c.5347G>A:p.Glu1783Lys	coding	Pathogenic/Likely_pathogenic
3	38551068	A	G	A38551068G	SCN5A	NM_198056.2(SCN5A):c.5304T>C:p.Ile1768=	coding	Benign
3	38551070	T	C	T38551070C	SCN5A	NM_198056.2(SCN5A):c.5302A>G:p.Ile1768Val	coding	Pathogenic
3	38551076	T	A	T38551076A	SCN5A	NM_198056.2(SCN5A):c.5296A>T:p.Met1766Leu	coding	Pathogenic
3	38551085	C	T	C38551085T	SCN5A	NM_198056.2(SCN5A):c.5287G>A:p.Val1763Met	coding	Pathogenic
3	38551093	A	C	A38551093C	SCN5A	NM_198056.2(SCN5A):c.5279T>G:p.Phe1760Cys	coding	Pathogenic
3	38551145	C	T	C38551145T	SCN5A	NM_198056.2(SCN5A):c.5227G>A:p.Gly1743Arg	coding	Pathogenic
3	38551197	C	T	C38551197T	SCN5A	NM_198056.2(SCN5A):c.5175G>A:p.Pro1725=	coding	Benign/Likely_benign
3	38551243	G	A	G38551243A	SCN5A	NM_198056.2(SCN5A):c.5129C>T:p.Ser1710Leu	coding	Pathogenic/Likely_pathogenic
3	38551308	G	A	G38551308A	SCN5A	NM_000335.5(SCN5A):c.5061C>T:p.Ile1687=	coding	Benign/Likely_benign
3	38551437	C	T	C38551437T	SCN5A	NM_198056.2(SCN5A):c.4935G>A:p.Thr1645=	coding	Benign/Likely_benign
3	38551441	C	T	C38551441T	SCN5A	NM_198056.2(SCN5A):c.4931G>A:p.Arg1644His	coding	Pathogenic
3	38551460	G	A	G38551460A	SCN5A	NM_198056.2(SCN5A):c.4912C>T:p.Arg1638Ter	coding	Pathogenic/Likely_pathogenic
3	38551478	G	A	G38551478A	SCN5A	NM_198056.2(SCN5A):c.4894C>T:p.Arg1632Cys	coding	Pathogenic
3	38551482	T	A	T38551482A	SCN5A	NM_198056.2(SCN5A):c.4890A>T:p.Ile1630=	coding	Benign/Likely_benign
3	38551504	C	T	C38551504T	SCN5A	NM_198056.2(SCN5A):c.4868G>A:p.Arg1623Gln	coding	Pathogenic
3	38551505	G	A	G38551505A	SCN5A	NM_198056.2(SCN5A):c.4867C>T:p.Arg1623Ter	coding	Pathogenic
3	38551524	G	A	G38551524A	SCN5A	NM_000335.5(SCN5A):c.4845C>T:p.Phe1615=	coding	Benign/Likely_benign
3	38551563	G	A	G38551563A	SCN5A	NM_198056.2(SCN5A):c.4814-5C>T	noncoding	Benign/Likely_benign
3	38554017	T	G	T38554017G	SCN5A	NM_198056.2(SCN5A):c.4813+262A>C	noncoding	Benign
3	38554279	C	G	C38554279G	SCN5A	NM_198056.2(SCN5A):c.4813G>C:p.Gly1605Arg	coding	Pathogenic
3	38554304	G	A	G38554304A	SCN5A	NM_198056.2(SCN5A):c.4788C>T:p.Phe1596=	coding	Benign/Likely_benign
3	38554309	C	T	C38554309T	SCN5A	NM_198056.2(SCN5A):c.4783G>A:p.Asp1595Asn	coding	Pathogenic
3	38554320	C	T	C38554320T	SCN5A	NM_198056.2(SCN5A):c.4772G>A:p.Trp1591Ter	coding	Pathogenic
3	38554372	C	A	C38554372A	SCN5A	NM_198056.2(SCN5A):c.4720G>T:p.Glu1574Ter	coding	Pathogenic/Likely_pathogenic
3	38555317	T	G	T38555317G	SCN5A	NM_198056.2(SCN5A):c.4542+339A>C	noncoding	Benign
3	38555363	T	C	T38555363C	SCN5A	NM_198056.2(SCN5A):c.4542+293A>G	noncoding	Benign
3	38555727	G	A	G38555727A	SCN5A	NM_198056.2(SCN5A):c.4471C>T:p.Gln1491Ter	coding	Pathogenic
3	38556067	A	G	A38556067G	SCN5A	NM_198056.2(SCN5A):c.4438-307T>C	noncoding	Benign
3	38556376	C	T	C38556376T	SCN5A	NM_198056.2(SCN5A):c.4437+65G>A	noncoding	Benign
3	38556505	G	T	G38556505T	SCN5A	NM_198056.2(SCN5A):c.4373C>A:p.Ser1458Tyr	coding	Pathogenic
3	38556576	A	G	A38556576G	SCN5A	NM_000335.5(SCN5A):c.4299T>C:p.Tyr1433=	coding	Benign/Likely_benign
3	38556844	C	T	C38556844T	SCN5A	NM_198056.2(SCN5A):c.4300-266G>A	noncoding	Benign
3	38556908	G	A	G38556908A	SCN5A	NM_198056.2(SCN5A):c.4299+323C>T	noncoding	Benign
3	38556968	C	T	C38556968T	SCN5A	NM_198056.2(SCN5A):c.4299+263G>A	noncoding	Benign
3	38557115	C	T	C38557115T	SCN5A	NM_198056.2(SCN5A):c.4299+116G>A	noncoding	Benign
3	38557268	C	T	C38557268T	SCN5A	NM_001099405.1(SCN5A):c.4246-690G>A	coding	Pathogenic
3	38557465	A	G	A38557465G	SCN5A	NM_198056.2(SCN5A):c.4246-181T>C	noncoding	Benign
3	38557546	G	A	G38557546A	SCN5A	NM_198056.2(SCN5A):c.4246-262C>T	noncoding	Benign
3	38560146	C	G	C38560146G	SCN5A	NM_198056.2(SCN5A):c.4245+1G>C	noncoding	Pathogenic/Likely_pathogenic
3	38560170	C	T	C38560170T	SCN5A	NM_198056.2(SCN5A):c.4222G>A:p.Gly1408Arg	coding	Pathogenic
3	38560189	G	A	G38560189A	SCN5A	NM_198056.2(SCN5A):c.4203C>T:p.Asn1401=	coding	Benign/Likely_benign
3	38560210	G	C	G38560210C	SCN5A	NM_198056.2(SCN5A):c.4182C>G:p.Tyr1394Ter	coding	Pathogenic
3	38560245	G	A	G38560245A	SCN5A	NM_198056.2(SCN5A):c.4147C>T:p.Gln1383Ter	coding	Pathogenic/Likely_pathogenic
3	38560306	C	T	C38560306T	SCN5A	NM_000335.5(SCN5A):c.4083G>A:p.Arg1361=	coding	Benign/Likely_benign
3	38560318	C	T	C38560318T	SCN5A	NM_198056.2(SCN5A):c.4074G>A:p.Gly1358=	coding	Benign/Likely_benign
3	38560336	G	A	G38560336A	SCN5A	NM_198056.2(SCN5A):c.4056C>T:p.Gly1352=	coding	Benign
3	38560357	C	T	C38560357T	SCN5A	NM_198056.2(SCN5A):c.4035G>A:p.Trp1345Ter	coding	Pathogenic
3	38560397	G	A	G38560397A	SCN5A	NM_198056.2(SCN5A):c.3995C>T:p.Pro1332Leu	coding	Pathogenic
3	38560398	G	A	G38560398A	SCN5A	NM_198056.2(SCN5A):c.3994C>T:p.Pro1332Ser	coding	Pathogenic
3	38560404	C	T	C38560404T	SCN5A	NM_198056.2(SCN5A):c.3988G>A:p.Ala1330Thr	coding	Pathogenic/Likely_pathogenic
3	38560416	C	A	C38560416A	SCN5A	NM_198056.2(SCN5A):c.3976G>T:p.Ala1326Ser	coding	Pathogenic
3	38560418	T	C	T38560418C	SCN5A	NM_198056.2(SCN5A):c.3974A>G:p.Asn1325Ser	coding	Pathogenic
3	38562310	C	T	C38562310T	SCN5A	NM_198056.2(SCN5A):c.3963+105G>A	noncoding	Benign
3	38562413	A	G	A38562413G	SCN5A	NM_000335.4(SCN5A):c.3960+2T>C	noncoding	Pathogenic
3	38562422	C	A	C38562422A	SCN5A	NM_000335.5(SCN5A):c.3953G>T:p.Gly1318Val	coding	Pathogenic/Likely_pathogenic
3	38562432	G	A	G38562432A	SCN5A	NM_198056.2(SCN5A):c.3946C>T:p.Arg1316Ter	coding	Pathogenic/Likely_pathogenic
3	38562456	G	A	G38562456A	SCN5A	NM_000335.4(SCN5A):c.3919C>T:p.Leu1307Phe	coding	Benign/Likely_benign
3	38562466	C	T	C38562466T	SCN5A	NM_198056.2(SCN5A):c.3912G>A:p.Thr1304=	coding	Benign/Likely_benign
3	38562496	G	A	G38562496A	SCN5A	NM_000335.5(SCN5A):c.3879C>T:p.Ala1293=	coding	Benign/Likely_benign
3	38566392	C	T	C38566392T	SCN5A	NM_000335.5(SCN5A):c.3837+17G>A	noncoding	Benign
3	38566408	C	T	C38566408T	SCN5A	NM_198056.2(SCN5A):c.3840+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	38566426	C	A	C38566426A	SCN5A	NM_198056.2(SCN5A):c.3823G>T:p.Asp1275Tyr	coding	Pathogenic
3	38566426	C	T	C38566426T	SCN5A	NM_198056.2(SCN5A):c.3823G>A:p.Asp1275Asn	coding	Pathogenic
3	38566437	C	T	C38566437T	SCN5A	NM_198056.2(SCN5A):c.3812G>A:p.Trp1271Ter	coding	Pathogenic
3	38566439	G	A	G38566439A	SCN5A	NM_198056.2(SCN5A):c.3810C>T:p.Ala1270=	coding	Benign/Likely_benign
3	38566558	C	A	C38566558A	SCN5A	NM_000335.5(SCN5A):c.3688G>T:p.Glu1230Ter	coding	Pathogenic
3	38575287	A	G	A38575287G	SCN5A	NM_000335.5(SCN5A):c.3663+10T>C	noncoding	Benign/Likely_benign
3	38575341	C	A	C38575341A	SCN5A	NM_198056.2(SCN5A):c.3622G>T:p.Glu1208Ter	coding	Pathogenic
3	38575342	G	A	G38575342A	SCN5A	NM_000335.5(SCN5A):c.3618C>T:p.Phe1206=	coding	Benign/Likely_benign
3	38575385	C	T	C38575385T	SCN5A	NM_000335.5(SCN5A):c.3575G>A:p.Arg1192Gln	coding	Benign/Likely_benign
3	38575388	C	T	C38575388T	SCN5A	NM_198056.2(SCN5A):c.3575G>A:p.Trp1192Ter	coding	Pathogenic
3	38575390	C	T	C38575390T	SCN5A	NM_198056.2(SCN5A):c.3573G>A:p.Trp1191Ter	coding	Pathogenic/Likely_pathogenic
3	38575410	G	A	G38575410A	SCN5A	NM_198056.2(SCN5A):c.3553C>T:p.Gln1185Ter	coding	Pathogenic
3	38575423	C	T	C38575423T	SCN5A	NM_198056.2(SCN5A):c.3540G>A:p.Ala1180=	coding	Benign/Likely_benign
3	38576649	C	T	C38576649T	SCN5A	NM_198056.2(SCN5A):c.3511+12G>A	noncoding	Benign
3	38576651	G	A	G38576651A	SCN5A	NM_000335.5(SCN5A):c.3508+10C>T	noncoding	Benign/Likely_benign
3	38576701	G	A	G38576701A	SCN5A	NM_198056.2(SCN5A):c.3471C>T:p.Leu1157=	coding	Benign/Likely_benign
3	38576715	G	A	G38576715A	SCN5A	NM_000335.5(SCN5A):c.3454C>T:p.Gln1152Ter	coding	Pathogenic
3	38576797	T	A	T38576797A	SCN5A	NM_198056.2(SCN5A):c.3391-16A>T	noncoding	Benign/Likely_benign
3	38579372	G	A	G38579372A	SCN5A	NM_198056.2(SCN5A):c.3352C>T:p.Gln1118Ter	coding	Pathogenic/Likely_pathogenic
3	38579439	C	T	C38579439T	SCN5A	NM_198056.2(SCN5A):c.3285G>A:p.Trp1095Ter	coding	Pathogenic/Likely_pathogenic
3	38579455	G	A	G38579455A	SCN5A	NM_000335.5(SCN5A):c.3266C>T:p.Pro1089Leu	coding	Benign/Likely_benign
3	38579478	C	T	C38579478T	SCN5A	NM_000335.5(SCN5A):c.3243G>A:p.Val1081=	coding	Benign/Likely_benign
3	38579746	C	G	C38579746G	SCN5A	NM_198056.2(SCN5A):c.3229-251G>C	noncoding	Benign
3	38580976	T	C	T38580976C	SCN5A	NM_000335.5(SCN5A):c.3183A>G:p.Glu1061=	coding	Benign/Likely_benign
3	38581111	C	T	C38581111T	SCN5A	NM_198056.2(SCN5A):c.3048G>A:p.Thr1016=	coding	Benign/Likely_benign
3	38581170	C	A	C38581170A	SCN5A	NM_198056.2(SCN5A):c.2989G>T:p.Ala997Ser	coding	Pathogenic
3	38581226	C	T	C38581226T	SCN5A	NM_198056.2(SCN5A):c.2933G>A:p.Trp978Ter	coding	Pathogenic
3	38581373	T	C	T38581373C	SCN5A	NM_198056.2(SCN5A):c.2788-2A>G	noncoding	Pathogenic
3	38581377	G	A	G38581377A	SCN5A	NM_000335.5(SCN5A):c.2788-6C>T	noncoding	Benign/Likely_benign
3	38585437	T	C	T38585437C	SCN5A	NM_198056.2(SCN5A):c.2787+254A>G	noncoding	Benign
3	38585674	G	T	G38585674T	SCN5A	NM_198056.2(SCN5A):c.2787+17C>A	noncoding	Benign
3	38585689	A	T	A38585689T	SCN5A	NM_000335.5(SCN5A):c.2787+2T>A	noncoding	Pathogenic
3	38585749	G	A	G38585749A	SCN5A	NM_198056.2(SCN5A):c.2729C>T:p.Ser910Leu	coding	Pathogenic/Likely_pathogenic
3	38585842	C	T	C38585842T	SCN5A	NM_198056.2(SCN5A):c.2636G>A:p.Trp879Ter	coding	Pathogenic
3	38585846	G	A	G38585846A	SCN5A	NM_198056.2(SCN5A):c.2632C>T:p.Arg878Cys	coding	Pathogenic/Likely_pathogenic
3	38585903	G	A	G38585903A	SCN5A	NM_198056.2(SCN5A):c.2575C>T:p.Gln859Ter	coding	Pathogenic/Likely_pathogenic
3	38585951	T	C	T38585951C	SCN5A	NM_198056.2(SCN5A):c.2527A>G:p.Thr843Ala	coding	Pathogenic
3	38585996	G	C	G38585996C	SCN5A	NM_000335.5(SCN5A):c.2482C>G:p.Leu828Val	coding	Pathogenic
3	38586012	C	T	C38586012T	SCN5A	NM_000335.5(SCN5A):c.2466G>A:p.Trp822Ter	coding	Pathogenic
3	38586038	G	A	G38586038A	SCN5A	NM_000335.5(SCN5A):c.2440C>T:p.Arg814Trp	coding	Pathogenic/Likely_pathogenic
3	38586138	A	G	A38586138G	SCN5A	NM_198056.2(SCN5A):c.2437-97T>C	noncoding	Benign
3	38586334	A	G	A38586334G	SCN5A	NM_198056.2(SCN5A):c.2437-293T>C	noncoding	Benign
3	38587151	A	G	A38587151G	SCN5A	NM_198056.2(SCN5A):c.2436+249T>C	noncoding	Benign
3	38587170	C	A	C38587170A	SCN5A	NM_198056.2(SCN5A):c.2436+230G>T	noncoding	Benign
3	38587545	A	G	A38587545G	SCN5A	NM_198056.2(SCN5A):c.2291T>C:p.Met764Thr	coding	Pathogenic
3	38587591	A	G	A38587591G	SCN5A	NM_198056.2(SCN5A):c.2263-18T>C	noncoding	Benign
3	38597737	C	T	C38597737T	SCN5A	NM_198056.2(SCN5A):c.2254G>A:p.Gly752Arg	coding	Pathogenic/Likely_pathogenic
3	38597738	G	A	G38597738A	SCN5A	NM_198056.2(SCN5A):c.2253C>T:p.Val751=	coding	Benign/Likely_benign
3	38598916	A	T	A38598916T	SCN5A	NM_198056.2(SCN5A):c.2023+2T>A	noncoding	Pathogenic
3	38598927	C	T	C38598927T	SCN5A	NM_198056.2(SCN5A):c.2014G>A:p.Ala672Thr	coding	Benign/Likely_benign
3	38598974	G	A	G38598974A	SCN5A	NM_000335.5(SCN5A):c.1967C>T:p.Pro656Leu	coding	Benign/Likely_benign
3	38598978	C	A	C38598978A	SCN5A	NM_000335.5(SCN5A):c.1963G>T:p.Glu655Ter	coding	Pathogenic
3	38599051	C	T	C38599051T	SCN5A	NM_198056.2(SCN5A):c.1891-1G>A	coding	Pathogenic
3	38603750	G	A	G38603750A	SCN5A	NM_000335.5(SCN5A):c.1852C>T:p.Leu618Phe	coding	Benign/Likely_benign
3	38603760	T	C	T38603760C	SCN5A	NM_198056.2(SCN5A):c.1842A>G:p.Pro614=	coding	Benign/Likely_benign
3	38603887	G	T	G38603887T	SCN5A	NM_000335.5(SCN5A):c.1715C>A:p.Ala572Asp	coding	Benign/Likely_benign
3	38603929	T	C	T38603929C	SCN5A	NM_000335.5(SCN5A):c.1673A>G:p.His558Arg	coding	Benign/Likely_benign
3	38603945	C	A	C38603945A	SCN5A	NM_000335.5(SCN5A):c.1657G>T:p.Glu553Ter	coding	Pathogenic
3	38603964	A	G	A38603964G	SCN5A	NM_198056.2(SCN5A):c.1638T>C:p.Asp546=	coding	Benign/Likely_benign
3	38603999	G	A	G38603999A	SCN5A	NM_000335.5(SCN5A):c.1603C>T:p.Arg535Ter	coding	Pathogenic
3	38604015	A	G	A38604015G	SCN5A	NM_000335.5(SCN5A):c.1587T>C:p.Ile529=	coding	Benign/Likely_benign
3	38604031	G	T	G38604031T	SCN5A	NM_000335.5(SCN5A):c.1571C>A:p.Ser524Tyr	coding	Benign/Likely_benign
3	38604062	C	A	C38604062A	SCN5A	NM_000335.4(SCN5A):c.1540G>T:p.Gly514Cys	coding	Pathogenic
3	38604261	A	G	A38604261G	SCN5A	NM_198056.2(SCN5A):c.1519-178T>C	noncoding	Benign
3	38604508	C	T	C38604508T	SCN5A	NM_198056.2(SCN5A):c.1518+221G>A	noncoding	Benign
3	38604768	C	T	C38604768T	SCN5A	NM_000335.5(SCN5A):c.1479G>A:p.Arg493=	coding	Benign/Likely_benign
3	38604837	G	C	G38604837C	SCN5A	NM_000335.4(SCN5A):c.1410C>G:p.Asn470Lys	coding	Pathogenic
3	38604866	A	C	A38604866C	SCN5A	NM_000335.5(SCN5A):c.1381T>G:p.Leu461Val	coding	Benign/Likely_benign
3	38604932	C	T	C38604932T	SCN5A	NM_001099404.1(SCN5A):c.1339-24G>A	noncoding	Benign
3	38605134	C	T	C38605134T	SCN5A	NM_198056.2(SCN5A):c.1339-226G>A	noncoding	Benign
3	38605949	A	T	A38605949T	SCN5A	NM_198056.2(SCN5A):c.1338+2T>A	noncoding	Pathogenic/Likely_pathogenic
3	38605954	G	A	G38605954A	SCN5A	NM_198056.2(SCN5A):c.1335C>T:p.His445=	coding	Benign/Likely_benign
3	38605987	G	A	G38605987A	SCN5A	NM_000335.5(SCN5A):c.1302C>T:p.Phe434=	coding	Benign/Likely_benign
3	38606008	G	A	G38606008A	SCN5A	NM_198056.2(SCN5A):c.1281C>T:p.Thr427=	coding	Benign/Likely_benign
3	38606053	G	A	G38606053A	SCN5A	NM_000335.5(SCN5A):c.1236C>T:p.Val412=	coding	Benign/Likely_benign
3	38606058	C	T	C38606058T	SCN5A	NM_000335.4(SCN5A):c.1231G>A:p.Val411Met	coding	Pathogenic
3	38606071	G	C	G38606071C	SCN5A	NM_198056.2(SCN5A):c.1218C>G:p.Asn406Lys	coding	Pathogenic
3	38606094	G	A	G38606094A	SCN5A	NM_000335.5(SCN5A):c.1195C>T:p.Leu399=	coding	Benign/Likely_benign
3	38606122	G	T	G38606122T	SCN5A	NM_198056.2(SCN5A):c.1167C>A:p.Tyr389Ter	coding	Pathogenic
3	38606151	G	T	G38606151T	SCN5A	NM_000335.5(SCN5A):c.1141-3C>A	noncoding	Benign/Likely_benign
3	38606152	G	A	G38606152A	SCN5A	NM_198056.2(SCN5A):c.1141-4C>T	noncoding	Benign
3	38606289	G	C	G38606289C	SCN5A	NM_198056.2(SCN5A):c.1141-141C>G	noncoding	Benign
3	38606674	G	A	G38606674A	SCN5A	NM_198056.2(SCN5A):c.1135C>T:p.Gln379Ter	coding	Pathogenic
3	38606675	A	T	A38606675T	SCN5A	NM_198056.2(SCN5A):c.1134T>A:p.Tyr378Ter	coding	Pathogenic
3	38606682	C	T	C38606682T	SCN5A	NM_198056.2(SCN5A):c.1127G>A:p.Arg376His	coding	Pathogenic/Likely_pathogenic
3	38606688	C	T	C38606688T	SCN5A	NM_198056.2(SCN5A):c.1121G>A:p.Trp374Ter	coding	Pathogenic
3	38606699	C	T	C38606699T	SCN5A	NM_000335.5(SCN5A):c.1110G>A:p.Thr370=	coding	Benign/Likely_benign
3	38606709	C	T	C38606709T	SCN5A	NM_198056.2(SCN5A):c.1100G>A:p.Arg367His	coding	Pathogenic
3	38606710	G	A	G38606710A	SCN5A	NM_198056.2(SCN5A):c.1099C>T:p.Arg367Cys	coding	Pathogenic/Likely_pathogenic
3	38606729	C	T	C38606729T	SCN5A	NM_198056.2(SCN5A):c.1080G>A:p.Trp360Ter	coding	Pathogenic
3	38606743	C	T	C38606743T	SCN5A	NM_198056.2(SCN5A):c.1066G>A:p.Asp356Asn	coding	Pathogenic/Likely_pathogenic
3	38606744	G	A	G38606744A	SCN5A	NM_198056.2(SCN5A):c.1065C>T:p.Phe355=	coding	Benign/Likely_benign
3	38606759	G	A	G38606759A	SCN5A	NM_198056.2(SCN5A):c.1050C>T:p.His350=	coding	Benign/Likely_benign
3	38606792	G	A	G38606792A	SCN5A	NM_000335.5(SCN5A):c.1017C>T:p.Tyr339=	coding	Benign
3	38608195	G	A	G38608195A	SCN5A	NM_000335.5(SCN5A):c.954C>T:p.Asn318=	coding	Benign/Likely_benign
3	38608433	T	C	T38608433C	SCN5A	NM_198056.2(SCN5A):c.935-219A>G	noncoding	Benign
3	38608481	C	G	C38608481G	SCN5A	NM_198056.2(SCN5A):c.935-267G>C	noncoding	Benign
3	38609764	C	A	C38609764A	SCN5A	NM_198056.2(SCN5A):c.904G>T:p.Glu302Ter	coding	Pathogenic
3	38609783	C	T	C38609783T	SCN5A	NM_198056.2(SCN5A):c.885G>A:p.Glu295=	coding	Benign/Likely_benign
3	38609812	C	A	C38609812A	SCN5A	NM_000335.5(SCN5A):c.856G>T:p.Ala286Ser	coding	Benign/Likely_benign
3	38609823	C	T	C38609823T	SCN5A	NM_198056.2(SCN5A):c.845G>A:p.Arg282His	coding	Pathogenic
3	38609873	G	A	G38609873A	SCN5A	NM_198056.2(SCN5A):c.795C>T:p.Ala265=	coding	Benign
3	38613480	G	A	G38613480A	SCN5A	NM_198056.2(SCN5A):c.703+263C>T	noncoding	Benign
3	38613698	G	T	G38613698T	SCN5A	NM_198056.2(SCN5A):c.703+45C>A	noncoding	Benign
3	38613744	T	G	T38613744G	SCN5A	NM_198056.2(SCN5A):c.702A>C:p.Ser234=	coding	Pathogenic
3	38613773	G	A	G38613773A	SCN5A	NM_000335.4(SCN5A):c.673C>T:p.Arg225Trp	coding	Pathogenic/Likely_pathogenic
3	38613781	C	T	C38613781T	SCN5A	NM_000335.5(SCN5A):c.665G>A:p.Arg222Gln	coding	Pathogenic
3	38613782	G	A	G38613782A	SCN5A	NM_198056.2(SCN5A):c.664C>T:p.Arg222Ter	coding	Pathogenic
3	38613824	C	A	C38613824A	SCN5A	NM_000335.5(SCN5A):c.622G>T:p.Glu208Ter	coding	Pathogenic
3	38614030	C	T	C38614030T	SCN5A	NM_198056.2(SCN5A):c.612-196G>A	coding	Benign/Likely_benign
3	38620842	C	T	C38620842T	SCN5A	NM_198056.2(SCN5A):c.611+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	38620919	G	A	G38620919A	SCN5A	NM_000335.5(SCN5A):c.535C>T:p.Arg179Ter	coding	Pathogenic/Likely_pathogenic
3	38622216	C	T	C38622216T	SCN5A	NM_198056.2(SCN5A):c.482+184G>A	noncoding	Benign
3	38622384	C	G	C38622384G	SCN5A	NM_198056.2(SCN5A):c.482+16G>C	noncoding	Benign
3	38622405	A	C	A38622405C	SCN5A	NM_000335.5(SCN5A):c.477T>G:p.Tyr159Ter	coding	Pathogenic
3	38622414	C	T	C38622414T	SCN5A	NM_198056.2(SCN5A):c.468G>A:p.Trp156Ter	coding	Pathogenic
3	38622415	C	T	C38622415T	SCN5A	NM_198056.2(SCN5A):c.467G>A:p.Trp156Ter	coding	Pathogenic
3	38622426	G	A	G38622426A	SCN5A	NM_000335.5(SCN5A):c.456C>T:p.Asp152=	coding	Benign/Likely_benign
3	38622447	G	T	G38622447T	SCN5A	NM_198056.2(SCN5A):c.435C>A:p.Cys145Ter	coding	Pathogenic
3	38622673	T	G	T38622673G	SCN5A	NM_198056.2(SCN5A):c.393-184A>C	noncoding	Benign
3	38629983	C	T	C38629983T	SCN5A	NM_198056.2(SCN5A):c.392+328G>A	noncoding	Benign
3	38630069	A	G	A38630069G	SCN5A	NM_198056.2(SCN5A):c.392+242T>C	noncoding	Benign
3	38630277	G	T	G38630277T	SCN5A	NM_198056.2(SCN5A):c.392+34C>A	noncoding	Benign
3	38630341	C	T	C38630341T	SCN5A	NM_198056.2(SCN5A):c.362G>A:p.Arg121Gln	coding	Pathogenic
3	38630342	G	A	G38630342A	SCN5A	NM_198056.2(SCN5A):c.361C>T:p.Arg121Trp	coding	Pathogenic/Likely_pathogenic
3	38630343	G	A	G38630343A	SCN5A	NM_198056.2(SCN5A):c.360C>T:p.Ile120=	coding	Benign/Likely_benign
3	38630349	G	A	G38630349A	SCN5A	NM_000335.5(SCN5A):c.354C>T:p.His118=	coding	Benign/Likely_benign
3	38630392	C	T	C38630392T	SCN5A	NM_198056.2(SCN5A):c.311G>A:p.Arg104Gln	coding	Pathogenic
3	38630453	G	A	G38630453A	SCN5A	NM_000335.4(SCN5A):c.274-24C>T	noncoding	Benign
3	38630454	C	T	C38630454T	SCN5A	NM_198056.2(SCN5A):c.274-25G>A	noncoding	Benign
3	38633048	T	C	T38633048C	SCN5A	NM_198056.2(SCN5A):c.260A>G:p.Tyr87Cys	coding	Pathogenic
3	38633104	A	T	A38633104T	SCN5A	NM_198056.2(SCN5A):c.204T>A:p.Tyr68Ter	coding	Pathogenic
3	38633181	G	A	G38633181A	SCN5A	NM_000335.5(SCN5A):c.127C>T:p.Arg43Ter	coding	Pathogenic
3	38633190	G	A	G38633190A	SCN5A	NM_000335.5(SCN5A):c.118C>T:p.Gln40Ter	coding	Pathogenic
3	38633208	G	A	G38633208A	SCN5A	NM_000335.5(SCN5A):c.100C>T:p.Arg34Cys	coding	Benign/Likely_benign
3	38633221	T	C	T38633221C	SCN5A	NM_000335.5(SCN5A):c.87A>G:p.Ala29=	coding	Benign/Likely_benign
3	38633266	G	A	G38633266A	SCN5A	NM_198056.2(SCN5A):c.42C>T:p.Arg14=	coding	Benign/Likely_benign
3	38633499	C	T	C38633499T	SCN5A	NM_198056.2(SCN5A):c.-52-140G>A	noncoding	Benign
3	38697386	T	C	T38697386C	SCN10A	NM_006514.3(SCN10A):c.5834A>G:p.Glu1945Gly	coding	Benign/Likely_benign
3	38697563	G	A	G38697563A	SCN10A	NM_006514.3(SCN10A):c.5657C>T:p.Ala1886Val	coding	Benign/Likely_benign
3	38697592	G	C	G38697592C	SCN10A	NM_006514.3(SCN10A):c.5628C>G:p.Thr1876=	coding	Benign
3	38697724	A	G	A38697724G	SCN10A	NM_006514.3(SCN10A):c.5496T>C:p.Thr1832=	coding	Benign/Likely_benign
3	38697925	C	T	C38697925T	SCN10A	NM_006514.3(SCN10A):c.5295G>A:p.Ser1765=	coding	Benign/Likely_benign
3	38698003	G	A	G38698003A	SCN10A	NM_006514.3(SCN10A):c.5217C>T:p.Asp1739=	coding	Benign
3	38698083	T	C	T38698083C	SCN10A	NM_006514.3(SCN10A):c.5137=:p.Val1713=	coding	Benign
3	38698131	C	T	C38698131T	SCN10A	NM_006514.3(SCN10A):c.5089G>A:p.Val1697Ile	coding	Benign
3	38698173	G	A	G38698173A	SCN10A	NM_006514.3(SCN10A):c.5047C>T:p.Pro1683Ser	coding	Benign
3	38698236	C	T	C38698236T	SCN10A	NM_006514.3(SCN10A):c.4984G>A:p.Gly1662Ser	coding	Benign/Likely_benign
3	38698348	G	A	G38698348A	SCN10A	NM_006514.3(SCN10A):c.4872C>T:p.Phe1624=	coding	Benign
3	38698354	A	G	A38698354G	SCN10A	NM_006514.3(SCN10A):c.4866T>C:p.Ser1622=	coding	Benign
3	38698510	C	T	C38698510T	SCN10A	NM_006514.3(SCN10A):c.4710G>A:p.Thr1570=	coding	Benign
3	38698526	C	T	C38698526T	SCN10A	NM_006514.3(SCN10A):c.4694G>A:p.Ser1565Asn	coding	Benign/Likely_benign
3	38698540	A	C	A38698540C	SCN10A	NM_006514.3(SCN10A):c.4680T>G:p.Leu1560=	coding	Benign
3	38701823	G	A	G38701823A	SCN10A	NM_006514.3(SCN10A):c.4657+16C>T	noncoding	Benign
3	38701840	C	T	C38701840T	SCN10A	NM_006514.3(SCN10A):c.4656G>A:p.Ala1552=	coding	Benign
3	38701981	C	T	C38701981T	SCN10A	NM_006514.3(SCN10A):c.4515G>A:p.Thr1505=	coding	Benign/Likely_benign
3	38702080	G	A	G38702080A	SCN10A	NM_006514.3(SCN10A):c.4416C>T:p.Ile1472=	coding	Benign/Likely_benign
3	38707286	C	T	C38707286T	SCN10A	NM_006514.3(SCN10A):c.4379G>A:p.Arg1460Gln	coding	Benign/Likely_benign
3	38707342	T	C	T38707342C	SCN10A	NM_006514.3(SCN10A):c.4323A>G:p.Lys1441=	coding	Benign
3	38707535	T	A	T38707535A	SCN10A	NM_006514.3(SCN10A):c.4282-152A>T	noncoding	Benign
3	38707548	C	T	C38707548T	SCN10A	NM_006514.3(SCN10A):c.4282-165G>A	noncoding	Benign
3	38710916	G	A	G38710916A	SCN10A	NM_006514.3(SCN10A):c.4090-19C>T	noncoding	Benign
3	38712241	A	T	A38712241T	SCN10A	NM_006514.3(SCN10A):c.4009T>A:p.Ser1337Thr	coding	Benign
3	38712340	C	T	C38712340T	SCN10A	NM_006514.3(SCN10A):c.3910G>A:p.Ala1304Thr	coding	Pathogenic
3	38712486	C	T	C38712486T	SCN10A	NM_006514.3(SCN10A):c.3805-41G>A	noncoding	Benign
3	38712601	G	A	G38712601A	SCN10A	NM_006514.3(SCN10A):c.3805-156C>T	noncoding	Benign
3	38712685	T	C	T38712685C	SCN10A	NM_006514.3(SCN10A):c.3805-240A>G	noncoding	Benign
3	38714146	A	G	A38714146G	SCN10A	NM_006514.3(SCN10A):c.3682-66T>C	noncoding	Benign
3	38714286	T	A	T38714286A	SCN10A	NM_006514.3(SCN10A):c.3682-206A>T	noncoding	Benign
3	38714409	A	G	A38714409G	SCN10A	NM_006514.3(SCN10A):c.3682-329T>C	noncoding	Benign
3	38718792	G	A	G38718792A	SCN10A	NM_006514.3(SCN10A):c.3542C>T:p.Thr1181Met	coding	Benign
3	38719015	C	A	C38719015A	SCN10A	NM_006514.3(SCN10A):c.3508-189G>T	noncoding	Benign
3	38722372	G	C	G38722372C	SCN10A	NM_006514.3(SCN10A):c.3393C>G:p.Thr1131=	coding	Benign
3	38723167	G	T	G38723167T	SCN10A	NM_006514.3(SCN10A):c.3352+263C>A	noncoding	Benign
3	38723291	G	T	G38723291T	SCN10A	NM_006514.3(SCN10A):c.3352+139C>A	noncoding	Benign
3	38723491	G	C	G38723491C	SCN10A	NM_006514.3(SCN10A):c.3291C>G:p.Ile1097Met	coding	Benign
3	38723507	A	G	A38723507G	SCN10A	NM_006514.3(SCN10A):c.3275T>C:p.Leu1092Pro	coding	Benign
3	38723544	C	T	C38723544T	SCN10A	NM_006514.3(SCN10A):c.3238G>A:p.Asp1080Asn	coding	Benign/Likely_benign
3	38723573	G	A	G38723573A	SCN10A	NM_006514.3(SCN10A):c.3229-20C>T	noncoding	Benign
3	38724857	T	C	T38724857C	SCN10A	NM_006514.3(SCN10A):c.3228+317A>G	noncoding	Benign
3	38725184	A	G	A38725184G	SCN10A	NM_006514.3(SCN10A):c.3218T>C:p.Val1073Ala	coding	Benign
3	38725210	C	T	C38725210T	SCN10A	NM_006514.3(SCN10A):c.3192G>A:p.Thr1064=	coding	Benign
3	38725269	G	T	G38725269T	SCN10A	NM_006514.3(SCN10A):c.3133C>A:p.Pro1045Thr	coding	Benign
3	38725334	A	G	A38725334G	SCN10A	NM_006514.3(SCN10A):c.3088-20T>C	noncoding	Benign
3	38726591	G	A	G38726591A	SCN10A	NM_006514.3(SCN10A):c.3087+15C>T	noncoding	Benign
3	38726756	G	A	G38726756A	SCN10A	NM_006514.3(SCN10A):c.2937C>T:p.Gly979=	coding	Benign
3	38726809	T	C	T38726809C	SCN10A	NM_006514.3(SCN10A):c.2884A>G:p.Ile962Val	coding	Benign
3	38726843	T	C	T38726843C	SCN10A	NM_006514.3(SCN10A):c.2850A>G:p.Lys950=	coding	Benign
3	38726879	G	A	G38726879A	SCN10A	NM_006514.3(SCN10A):c.2814C>T:p.Phe938=	coding	Benign
3	38727147	G	C	G38727147C	SCN10A	NM_006514.3(SCN10A):c.2641-95C>G	noncoding	Benign
3	38728372	C	A	C38728372A	SCN10A	NM_006514.3(SCN10A):c.2640+170G>T	noncoding	Benign
3	38729148	C	G	C38729148G	SCN10A	NM_006514.3(SCN10A):c.2281-247G>C	noncoding	Benign
3	38739217	G	A	G38739217A	SCN10A	NM_006514.3(SCN10A):c.2280+298C>T	noncoding	Benign
3	38742247	G	A	G38742247A	SCN10A	NM_006514.3(SCN10A):c.2106+44C>T	noncoding	Benign
3	38742354	G	A	G38742354A	SCN10A	NM_006514.3(SCN10A):c.2043C>T:p.Phe681=	coding	Benign
3	38742448	A	T	A38742448T	SCN10A	NM_006514.3(SCN10A):c.1949T>A:p.Met650Lys	coding	Benign/Likely_benign
3	38742538	T	C	T38742538C	SCN10A	NM_006514.3(SCN10A):c.1868-9A>G	noncoding	Benign
3	38742565	A	C	A38742565C	SCN10A	NM_006514.3(SCN10A):c.1868-36T>G	noncoding	Benign
3	38742647	T	G	T38742647G	SCN10A	NM_006514.3(SCN10A):c.1868-118A>C	noncoding	Benign
3	38742737	T	G	T38742737G	SCN10A	NM_006514.3(SCN10A):c.1868-208A>C	noncoding	Benign
3	38749991	C	T	C38749991T	SCN10A	NM_006514.3(SCN10A):c.1867+82G>A	noncoding	Benign
3	38750016	C	T	C38750016T	SCN10A	NM_006514.3(SCN10A):c.1867+57G>A	noncoding	Benign
3	38750172	C	T	C38750172T	SCN10A	NM_006514.3(SCN10A):c.1768G>A:p.Gly590Arg	coding	Benign
3	38752449	A	G	A38752449G	SCN10A	NM_006514.3(SCN10A):c.1525T>C:p.Ser509Pro	coding	Benign
3	38752498	G	A	G38752498A	SCN10A	NM_006514.3(SCN10A):c.1476C>T:p.Leu492=	coding	Benign
3	38752777	T	C	T38752777C	SCN10A	NM_006514.3(SCN10A):c.1462-265A>G	noncoding	Benign
3	38755494	A	G	A38755494G	SCN10A	NM_006514.3(SCN10A):c.1461+294T>C	noncoding	Benign
3	38755796	G	A	G38755796A	SCN10A	NM_006514.3(SCN10A):c.1453C>T:p.Arg485Cys	coding	Benign/Likely_benign
3	38755962	C	T	C38755962T	SCN10A	NM_006514.3(SCN10A):c.1291-4G>A	noncoding	Benign/Likely_benign
3	38755963	G	A	G38755963A	SCN10A	NM_006514.3(SCN10A):c.1291-5C>T	noncoding	Benign
3	38756437	C	T	C38756437T	SCN10A	NM_006514.3(SCN10A):c.1290+237G>A	noncoding	Benign
3	38756680	C	T	C38756680T	SCN10A	NM_006514.3(SCN10A):c.1284G>A:p.Glu428=	coding	Benign
3	38756807	A	C	A38756807C	SCN10A	NM_006514.3(SCN10A):c.1157T>G:p.Phe386Cys	coding	Benign
3	38757345	C	T	C38757345T	SCN10A	NM_006514.3(SCN10A):c.951-186G>A	noncoding	Benign
3	38760760	A	G	A38760760G	SCN10A	NM_006514.3(SCN10A):c.884-13T>C	noncoding	Benign
3	38763548	T	G	T38763548G	SCN10A	NM_006514.3(SCN10A):c.648A>C:p.Thr216=	coding	Benign/Likely_benign
3	38763578	T	C	T38763578C	SCN10A	NM_006514.3(SCN10A):c.618A>G:p.Ile206Met	coding	Benign
3	38763639	C	G	C38763639G	SCN10A	NM_006514.3(SCN10A):c.600-43G>C	noncoding	Benign
3	38771518	T	C	T38771518C	SCN10A	NM_006514.3(SCN10A):c.471-111A>G	noncoding	Benign
3	38788964	C	T	C38788964T	SCN10A	NM_006514.3(SCN10A):c.462G>A:p.Glu154=	coding	Benign
3	38789045	C	T	C38789045T	SCN10A	NM_006514.3(SCN10A):c.390-9G>A	noncoding	Benign
3	38792154	C	A	C38792154A	SCN10A	NM_006514.3(SCN10A):c.285G>T:p.Leu95=	coding	Benign
3	38793608	T	A	T38793608A	SCN10A	NM_006514.3(SCN10A):c.270+133A>T	noncoding	Benign
3	38793743	G	A	G38793743A	SCN10A	NM_006514.3(SCN10A):c.268C>T:p.Arg90Trp	coding	Benign
3	38793958	G	A	G38793958A	SCN10A	NM_006514.3(SCN10A):c.53C>T:p.Pro18Leu	coding	Benign/Likely_benign
3	38793966	G	A	G38793966A	SCN10A	NM_006514.3(SCN10A):c.45C>T:p.Arg15=	coding	Benign
3	38846736	C	T	C38846736T	SCN11A	NM_001349253.2(SCN11A):c.5334G>A:p.Leu1778=	coding	Benign
3	38846901	G	A	G38846901A	SCN11A	NM_001349253.2(SCN11A):c.5169C>T:p.Pro1723=	coding	Benign
3	38847009	G	A	G38847009A	SCN11A	NM_001349253.2(SCN11A):c.5061C>T:p.Phe1687=	coding	Benign
3	38847033	G	A	G38847033A	SCN11A	NM_001349253.2(SCN11A):c.5037C>T:p.Arg1679=	coding	Benign
3	38847120	A	G	A38847120G	SCN11A	NM_001349253.2(SCN11A):c.4950T>C:p.Ala1650=	coding	Benign
3	38847244	G	A	G38847244A	SCN11A	NM_001349253.2(SCN11A):c.4826C>T:p.Thr1609Ile	coding	Benign
3	38847387	C	G	C38847387G	SCN11A	NM_001349253.2(SCN11A):c.4683G>C:p.Leu1561=	coding	Benign
3	38847672	G	A	G38847672A	SCN11A	NM_001349253.2(SCN11A):c.4398C>T:p.Arg1466=	coding	Benign
3	38850578	C	T	C38850578T	SCN11A	NM_001349253.2(SCN11A):c.4230G>A:p.Thr1410=	coding	Benign
3	38867368	G	A	G38867368A	SCN11A	NM_001349253.2(SCN11A):c.3904C>T:p.Leu1302Phe	coding	Pathogenic
3	38867453	T	C	T38867453C	SCN11A	NM_001349253.2(SCN11A):c.3819A>G:p.Glu1273=	coding	Benign
3	38872185	G	C	G38872185C	SCN11A	NM_001349253.2(SCN11A):c.3495+8C>G	noncoding	Benign
3	38883320	G	C	G38883320C	SCN11A	NM_001349253.2(SCN11A):c.3132C>G:p.Asn1044Lys	coding	Benign
3	38885346	G	A	G38885346A	SCN11A	NM_001349253.2(SCN11A):c.3006C>T:p.Gly1002=	coding	Benign
3	38885421	C	G	C38885421G	SCN11A	NM_001349253.2(SCN11A):c.2950-19G>C	noncoding	Benign
3	38894643	C	T	C38894643T	SCN11A	NM_001349253.2(SCN11A):c.2725G>A:p.Val909Ile	coding	Benign
3	38894722	G	A	G38894722A	SCN11A	NM_001349253.2(SCN11A):c.2646C>T:p.Pro882=	coding	Benign
3	38894936	A	G	A38894936G	SCN11A	NM_001349253.2(SCN11A):c.2432T>C:p.Leu811Pro	coding	Pathogenic
3	38894945	G	C	G38894945C	SCN11A	NM_001349253.2(SCN11A):c.2423C>G:p.Ala808Gly	coding	Pathogenic
3	38897047	T	C	T38897047C	SCN11A	NM_001349253.2(SCN11A):c.2201A>G:p.Lys734Arg	coding	Benign
3	38899975	A	T	A38899975T	SCN11A	NM_001349253.2(SCN11A):c.1941T>A:p.Ile647=	coding	Benign
3	38900083	G	T	G38900083T	SCN11A	NM_001349253.2(SCN11A):c.1843-10C>A	noncoding	Benign
3	38904069	A	G	A38904069G	SCN11A	NM_001349253.2(SCN11A):c.1638T>C:p.Cys546=	coding	Benign
3	38904075	G	T	G38904075T	SCN11A	NM_001349253.2(SCN11A):c.1632C>A:p.Leu544=	coding	Benign
3	38905220	A	G	A38905220G	SCN11A	NM_001349253.2(SCN11A):c.1575T>C:p.Ala525=	coding	Benign
3	38907980	C	T	C38907980T	SCN11A	NM_001349253.2(SCN11A):c.1442G>A:p.Gly481Glu	coding	Benign
3	38909109	A	G	A38909109G	SCN11A	NM_001349253.2(SCN11A):c.1187T>C:p.Leu396Pro	coding	Pathogenic
3	38909154	A	G	A38909154G	SCN11A	NM_001349253.2(SCN11A):c.1142T>C:p.Ile381Thr	coding	Pathogenic
3	38909187	C	T	C38909187T	SCN11A	NM_001349253.2(SCN11A):c.1109G>A:p.Arg370His	coding	Benign
3	38910105	C	T	C38910105T	SCN11A	NM_001349253.2(SCN11A):c.1062G>A:p.Arg354=	coding	Benign
3	38921205	T	G	T38921205G	SCN11A	NM_001349253.2(SCN11A):c.763A>C:p.Asn255His	coding	Benign
3	38921208	C	A	C38921208A	SCN11A	NM_001349253.2(SCN11A):c.760G>T:p.Val254Phe	coding	Benign
3	38921211	G	A	G38921211A	SCN11A	NM_001349253.2(SCN11A):c.757C>T:p.Leu253=	coding	Benign
3	38925454	G	A	G38925454A	SCN11A	NM_001349253.2(SCN11A):c.673C>T:p.Arg225Cys	coding	Pathogenic
3	38926819	T	A	T38926819A	SCN11A	NM_001349253.2(SCN11A):c.601A>T:p.Ile201Phe	coding	Benign
3	38950162	G	A	G38950162A	SCN11A	NM_001349253.2(SCN11A):c.201C>T:p.Gly67=	coding	Benign
3	38950300	G	A	G38950300A	SCN11A	NM_001349253.2(SCN11A):c.63C>T:p.Ser21=	coding	Benign
3	38950315	G	A	G38950315A	SCN11A	NM_001349253.2(SCN11A):c.48C>T:p.Phe16=	coding	Benign
3	39063106	T	C	T39063106C	WDR48	NM_020839.4(WDR48):c.105T>C:p.Ala35=	coding	Benign
3	39098264	C	T	C39098264T	GORASP1	NM_031899.3(GORASP1):c.1295G>A:p.Ser432Asn	coding	Benign
3	39098287	C	A	C39098287A	GORASP1	NM_031899.3(GORASP1):c.1272G>T:p.Gly424=	coding	Benign
3	39100508	C	T	C39100508T	GORASP1	NM_031899.3(GORASP1):c.567-5G>A	noncoding	Benign
3	39102753	G	A	G39102753A	GORASP1	NM_031899.3(GORASP1):c.273C>T:p.Gly91=	coding	Benign
3	39110923	A	G	A39110923G	TTC21A	NM_145755.2(TTC21A):c.341A>G:p.Tyr114Cys	coding	Pathogenic
3	39114743	G	A	G39114743A	TTC21A	NM_145755.2(TTC21A):c.716+1G>A	coding	Pathogenic
3	39130347	C	T	C39130347T	TTC21A	NM_145755.2(TTC21A):c.2329C>T:p.Gln777Ter	coding	Pathogenic
3	39136512	G	T	G39136512T	TTC21A	NM_145755.2(TTC21A):c.3116+5G>T	noncoding	Pathogenic
3	39184031	G	C	G39184031C	XIRP1	NM_194293.4(XIRP1):c.5415C>G:p.Leu1805=	coding	Benign
3	39184058	G	C	G39184058C	XIRP1	NM_194293.4(XIRP1):c.5388C>G:p.Pro1796=	coding	Benign
3	39184094	C	T	C39184094T	XIRP1	NM_194293.4(XIRP1):c.5352G>A:p.Met1784Ile	coding	Benign
3	39184276	T	C	T39184276C	XIRP1	NM_194293.4(XIRP1):c.5170A>G:p.Ile1724Val	coding	Benign
3	39184325	C	A	C39184325A	XIRP1	NM_194293.4(XIRP1):c.5121G>T:p.Gln1707His	coding	Benign
3	39184680	G	A	G39184680A	XIRP1	NM_194293.4(XIRP1):c.4766C>T:p.Thr1589Ile	coding	Benign
3	39184944	A	G	A39184944G	XIRP1	NM_194293.4(XIRP1):c.4502T>C:p.Val1501Ala	coding	Benign
3	39184946	G	A	G39184946A	XIRP1	NM_194293.4(XIRP1):c.4500C>T:p.Ala1500=	coding	Benign
3	39185385	G	A	G39185385A	XIRP1	NM_194293.4(XIRP1):c.4061C>T:p.Ser1354Leu	coding	Benign
3	39185683	G	A	G39185683A	XIRP1	NM_194293.4(XIRP1):c.3763C>T:p.Pro1255Ser	coding	Benign
3	39186264	G	A	G39186264A	XIRP1	NM_194293.4(XIRP1):c.3182C>T:p.Ala1061Val	coding	Benign
3	39186590	C	T	C39186590T	XIRP1	NM_194293.4(XIRP1):c.2856G>A:p.Pro952=	coding	Benign
3	39187023	G	A	G39187023A	XIRP1	NM_194293.4(XIRP1):c.2423C>T:p.Ser808Leu	coding	Benign
3	39187120	G	A	G39187120A	XIRP1	NM_194293.4(XIRP1):c.2326C>T:p.Arg776Trp	coding	Benign
3	39187196	G	A	G39187196A	XIRP1	NM_194293.4(XIRP1):c.2250C>T:p.Leu750=	coding	Benign
3	39187281	G	A	G39187281A	XIRP1	NM_194293.4(XIRP1):c.2165C>T:p.Ala722Val	coding	Benign
3	39187442	A	T	A39187442T	XIRP1	NM_194293.4(XIRP1):c.2004T>A:p.Leu668=	coding	Benign
3	39187520	C	T	C39187520T	XIRP1	NM_194293.4(XIRP1):c.1926G>A:p.Arg642=	coding	Benign
3	39187606	C	T	C39187606T	XIRP1	NM_194293.4(XIRP1):c.1840G>A:p.Val614Ile	coding	Benign
3	39187651	C	T	C39187651T	XIRP1	NM_194293.4(XIRP1):c.1795G>A:p.Glu599Lys	coding	Benign
3	39187705	G	T	G39187705T	XIRP1	NM_194293.4(XIRP1):c.1741C>A:p.Pro581Thr	coding	Benign
3	39187794	C	T	C39187794T	XIRP1	NM_194293.4(XIRP1):c.1652G>A:p.Arg551Gln	coding	Benign
3	39265456	A	G	A39265456G	CX3CR1	NM_001337.4(CX3CR1):c.1054T>C:p.Leu352=	coding	Benign
3	39265745	C	T	C39265745T	CX3CR1	NM_001337.4(CX3CR1):c.765G>A:p.Thr255=	coding	Benign
3	39266054	G	A	G39266054A	CX3CR1	NM_001337.4(CX3CR1):c.456C>T:p.Gly152=	coding	Benign
3	39266471	C	A	C39266471A	CX3CR1	NM_001337.4(CX3CR1):c.39G>T:p.Glu13Asp	coding	Benign
3	39383422	A	C	A39383422C	SLC25A38	NM_017875.4(SLC25A38):c.-303A>C	noncoding	Benign/Likely_benign
3	39383516	A	G	A39383516G	SLC25A38	NM_017875.4(SLC25A38):c.-209A>G	noncoding	Benign/Likely_benign
3	39389493	A	C	A39389493C	SLC25A38	NM_017875.4(SLC25A38):c.70-2A>C	noncoding	Pathogenic
3	39389590	G	A	G39389590A	SLC25A38	NM_017875.4(SLC25A38):c.165G>A:p.Leu55=	coding	Benign
3	39389591	C	T	C39389591T	SLC25A38	NM_017875.4(SLC25A38):c.166C>T:p.Gln56Ter	coding	Pathogenic
3	39390756	C	T	C39390756T	SLC25A38	NM_017875.4(SLC25A38):c.276+249C>T	noncoding	Benign
3	39391440	G	A	G39391440A	SLC25A38	NM_017875.4(SLC25A38):c.277-1G>A	noncoding	Pathogenic
3	39391513	C	T	C39391513T	SLC25A38	NM_017875.4(SLC25A38):c.349C>T:p.Arg117Ter	coding	Pathogenic
3	39391546	A	G	A39391546G	SLC25A38	NM_017875.4(SLC25A38):c.382A>G:p.Met128Val	coding	Benign/Likely_benign
3	39392312	G	A	G39392312A	SLC25A38	NM_017875.4(SLC25A38):c.625+291G>A	noncoding	Benign
3	39394574	A	T	A39394574T	SLC25A38	NM_017875.4(SLC25A38):c.790A>T:p.Lys264Ter	coding	Pathogenic
3	39394736	A	C	A39394736C	SLC25A38	NM_017875.4(SLC25A38):c.792+160A>C	noncoding	Benign
3	39394747	T	A	T39394747A	SLC25A38	NM_017875.4(SLC25A38):c.792+171T>A	noncoding	Benign
3	39394816	T	C	T39394816C	SLC25A38	NM_017875.4(SLC25A38):c.792+240T>C	noncoding	Benign
3	39396223	A	T	A39396223T	SLC25A38	NM_017875.4(SLC25A38):c.793-175A>T	noncoding	Benign
3	39396224	T	A	T39396224A	SLC25A38	NM_017875.4(SLC25A38):c.793-174T>A	noncoding	Benign
3	39396732	T	G	T39396732G	SLC25A38	NM_017875.4(SLC25A38):c.*212T>G	noncoding	Benign
3	39396830	A	T	A39396830T	SLC25A38	NM_017875.4(SLC25A38):c.*310A>T	noncoding	Benign
3	39396992	G	T	G39396992T	SLC25A38	NM_017875.4(SLC25A38):c.*472G>T	noncoding	Benign/Likely_benign
3	39397108	T	A	T39397108A	SLC25A38	NM_017875.4(SLC25A38):c.*588T>A	noncoding	Benign/Likely_benign
3	39407646	T	C	T39407646C	RPSA	NM_002295.6(RPSA):c.-8T>C	noncoding	Benign
3	39407678	C	T	C39407678T	RPSA	NM_002295.6(RPSA):c.25C>T:p.Gln9Ter	coding	Pathogenic
3	39408633	C	A	C39408633A	RPSA	NM_002295.6(RPSA):c.161C>A:p.Thr54Asn	coding	Pathogenic
3	39408644	C	T	C39408644T	RPSA	NM_002295.6(RPSA):c.172C>T:p.Leu58Phe	coding	Pathogenic
3	39410816	T	C	T39410816C	RPSA	NM_002295.6(RPSA):c.315T>C:p.Pro105=	coding	Benign
3	39411669	G	A	G39411669A	RPSA	NM_002295.6(RPSA):c.519G>A:p.Leu173=	coding	Benign
3	39411688	C	G	C39411688G	RPSA	NM_002295.6(RPSA):c.538C>G:p.Arg180Gly	coding	Pathogenic
3	39411688	C	T	C39411688T	RPSA	NM_002295.6(RPSA):c.538C>T:p.Arg180Trp	coding	Pathogenic
3	39411706	C	T	C39411706T	RPSA	NM_002295.6(RPSA):c.556C>T:p.Arg186Cys	coding	Pathogenic
3	40044269	G	A	G40044269A	MYRIP	NM_015460.4(MYRIP):c.330G>A:p.Ala110=	coding	Benign
3	40167243	G	A	G40167243A	MYRIP	NM_015460.4(MYRIP):c.729+4G>A	noncoding	Benign
3	40182317	C	T	C40182317T	MYRIP	NM_015460.4(MYRIP):c.971C>T:p.Pro324Leu	coding	Benign
3	40189926	G	A	G40189926A	MYRIP	NM_015460.4(MYRIP):c.1128G>A:p.Thr376=	coding	Benign
3	40244574	G	A	G40244574A	MYRIP	NM_015460.4(MYRIP):c.2229G>A:p.Thr743=	coding	Benign
3	41224522	A	G	A41224522G	CTNNB1	NM_001904.4(CTNNB1):c.14-4A>G	noncoding	Benign
3	41224607	A	G	A41224607G	CTNNB1	NM_001904.4(CTNNB1):c.95A>G:p.Asp32Gly	coding	Pathogenic/Likely_pathogenic
3	41224610	C	A	C41224610A	CTNNB1	NM_001904.4(CTNNB1):c.98C>A:p.Ser33Tyr	coding	Pathogenic/Likely_pathogenic
3	41224622	C	A	C41224622A	CTNNB1	NM_001904.4(CTNNB1):c.110C>A:p.Ser37Tyr	coding	Pathogenic/Likely_pathogenic
3	41224622	C	G	C41224622G	CTNNB1	NM_001904.4(CTNNB1):c.110C>G:p.Ser37Cys	coding	Pathogenic/Likely_pathogenic
3	41224622	C	T	C41224622T	CTNNB1	NM_001904.4(CTNNB1):c.110C>T:p.Ser37Phe	coding	Pathogenic/Likely_pathogenic
3	41224634	C	T	C41224634T	CTNNB1	NM_001904.4(CTNNB1):c.122C>T:p.Thr41Ile	coding	Pathogenic/Likely_pathogenic
3	41224645	T	C	T41224645C	CTNNB1	NM_001904.4(CTNNB1):c.133T>C:p.Ser45Pro	coding	Pathogenic/Likely_pathogenic
3	41224646	C	A	C41224646A	CTNNB1	NM_001904.4(CTNNB1):c.134C>A:p.Ser45Tyr	coding	Pathogenic/Likely_pathogenic
3	41224710	G	A	G41224710A	CTNNB1	NM_001904.4(CTNNB1):c.198G>A:p.Trp66Ter	coding	Pathogenic
3	41224980	C	T	C41224980T	CTNNB1	NM_001904.4(CTNNB1):c.268C>T:p.Arg90Ter	coding	Pathogenic
3	41224986	C	T	C41224986T	CTNNB1	NM_001904.4(CTNNB1):c.274C>T:p.Gln92Ter	coding	Pathogenic
3	41224995	C	T	C41224995T	CTNNB1	NM_001904.4(CTNNB1):c.283C>T:p.Arg95Ter	coding	Pathogenic
3	41225049	C	T	C41225049T	CTNNB1	NM_001904.4(CTNNB1):c.337C>T:p.Gln113Ter	coding	Pathogenic
3	41225132	T	C	T41225132C	CTNNB1	NM_001904.4(CTNNB1):c.420T>C:p.Ile140=	coding	Benign
3	41225208	G	C	G41225208C	CTNNB1	NM_001904.4(CTNNB1):c.495+1G>C	coding	Pathogenic
3	41225391	A	T	A41225391T	CTNNB1	NM_001904.4(CTNNB1):c.553A>T:p.Arg185Ter	coding	Pathogenic
3	41225480	C	G	C41225480G	CTNNB1	NM_001904.4(CTNNB1):c.642C>G:p.Thr214=	coding	Benign/Likely_benign
3	41225480	C	T	C41225480T	CTNNB1	NM_001904.4(CTNNB1):c.642C>T:p.Thr214=	coding	Benign
3	41225713	T	G	T41225713G	CTNNB1	NM_001904.4(CTNNB1):c.788T>G:p.Leu263Ter	coding	Pathogenic
3	41225721	C	T	C41225721T	CTNNB1	NM_001904.4(CTNNB1):c.796C>T:p.Gln266Ter	coding	Pathogenic
3	41225766	A	T	A41225766T	CTNNB1	NM_001904.4(CTNNB1):c.841A>T:p.Lys281Ter	coding	Pathogenic
3	41225785	A	G	A41225785G	CTNNB1	NM_001904.4(CTNNB1):c.860A>G:p.Asn287Ser	coding	Benign/Likely_benign
3	41225850	C	T	C41225850T	CTNNB1	NM_001904.4(CTNNB1):c.925C>T:p.Gln309Ter	coding	Pathogenic
3	41225853	G	T	G41225853T	CTNNB1	NM_001904.4(CTNNB1):c.928G>T:p.Glu310Ter	coding	Pathogenic
3	41227206	A	G	A41227206G	CTNNB1	NM_001904.4(CTNNB1):c.937-2A>G	noncoding	Pathogenic
3	41227270	C	A	C41227270A	CTNNB1	NM_001904.4(CTNNB1):c.999C>A:p.Tyr333Ter	coding	Pathogenic
3	41227270	C	G	C41227270G	CTNNB1	NM_001904.4(CTNNB1):c.999C>G:p.Tyr333Ter	coding	Pathogenic
3	41227285	G	A	G41227285A	CTNNB1	NM_001904.4(CTNNB1):c.1014G>A:p.Trp338Ter	coding	Pathogenic
3	41227294	C	T	C41227294T	CTNNB1	NM_001904.4(CTNNB1):c.1023C>T:p.Ser341=	coding	Benign
3	41227353	G	A	G41227353A	CTNNB1	NM_001904.4(CTNNB1):c.1081+1G>A	coding	Pathogenic
3	41233349	C	T	C41233349T	CTNNB1	NM_001904.4(CTNNB1):c.1090C>T:p.Gln364Ter	coding	Pathogenic
3	41233414	C	A	C41233414A	CTNNB1	NM_001904.4(CTNNB1):c.1155C>A:p.Leu385=	coding	Benign
3	41233615	T	C	T41233615C	CTNNB1	NM_001904.4(CTNNB1):c.1272T>C:p.Leu424=	coding	Benign/Likely_benign
3	41233640	A	T	A41233640T	CTNNB1	NM_001904.4(CTNNB1):c.1297A>T:p.Lys433Ter	coding	Pathogenic
3	41233763	C	T	C41233763T	CTNNB1	NM_001904.4(CTNNB1):c.1420C>T:p.Arg474Ter	coding	Pathogenic
3	41233787	C	T	C41233787T	CTNNB1	NM_001904.4(CTNNB1):c.1444C>T:p.Gln482Ter	coding	Pathogenic
3	41233859	C	T	C41233859T	CTNNB1	NM_001904.4(CTNNB1):c.1516C>T:p.Leu506=	coding	Benign
3	41234157	C	T	C41234157T	CTNNB1	NM_001904.4(CTNNB1):c.1543C>T:p.Arg515Ter	coding	Pathogenic
3	41234194	T	A	T41234194A	CTNNB1	NM_001904.4(CTNNB1):c.1580T>A:p.Leu527Ter	coding	Pathogenic
3	41234202	C	T	C41234202T	CTNNB1	NM_001904.4(CTNNB1):c.1588C>T:p.Gln530Ter	coding	Pathogenic
3	41234217	C	T	C41234217T	CTNNB1	NM_001904.4(CTNNB1):c.1603C>T:p.Arg535Ter	coding	Pathogenic
3	41234267	G	A	G41234267A	CTNNB1	NM_001904.4(CTNNB1):c.1653G>A:p.Thr551=	coding	Benign
3	41234286	C	T	C41234286T	CTNNB1	NM_001904.4(CTNNB1):c.1672C>T:p.Gln558Ter	coding	Pathogenic
3	41234297	G	C	G41234297C	CTNNB1	NM_001904.4(CTNNB1):c.1683G>C:p.Val561=	coding	Pathogenic
3	41234302	G	C	G41234302C	CTNNB1	NM_001904.4(CTNNB1):c.1683+5G>C	noncoding	Pathogenic
3	41235799	C	T	C41235799T	CTNNB1	NM_001904.4(CTNNB1):c.1759C>T:p.Arg587Ter	coding	Pathogenic/Likely_pathogenic
3	41235825	C	T	C41235825T	CTNNB1	NM_001904.4(CTNNB1):c.1785C>T:p.Thr595=	coding	Benign
3	41236412	C	T	C41236412T	CTNNB1	NM_001904.4(CTNNB1):c.1867C>T:p.Gln623Ter	coding	Pathogenic
3	41236445	G	T	G41236445T	CTNNB1	NM_001904.4(CTNNB1):c.1900G>T:p.Glu634Ter	coding	Pathogenic
3	41236595	T	G	T41236595G	CTNNB1	NM_001904.4(CTNNB1):c.1962T>G:p.Tyr654Ter	coding	Pathogenic
3	41236614	C	T	C41236614T	CTNNB1	NM_001904.4(CTNNB1):c.1981C>T:p.Arg661Ter	coding	Pathogenic
3	41236616	A	C	A41236616C	CTNNB1	NM_001904.4(CTNNB1):c.1983A>C:p.Arg661=	coding	Benign
3	41236691	G	A	G41236691A	CTNNB1	NM_001904.4(CTNNB1):c.2058G>A:p.Glu686=	coding	Benign
3	41236702	G	A	G41236702A	CTNNB1	NM_001904.4(CTNNB1):c.2069G>A:p.Trp690Ter	coding	Pathogenic
3	41236711	T	C	T41236711C	CTNNB1	NM_001904.4(CTNNB1):c.2076+2T>C	noncoding	Pathogenic
3	41238067	C	T	C41238067T	CTNNB1	NM_001904.4(CTNNB1):c.2128C>T:p.Arg710Cys	coding	Pathogenic
3	41239316	C	T	C41239316T	CTNNB1	NM_001904.4(CTNNB1):c.2320C>T:p.Leu774=	coding	Benign
3	41239336	C	T	C41239336T	CTNNB1	NM_001904.4(CTNNB1):c.2340C>T:p.Asp780=	coding	Benign
3	41455578	T	C	T41455578C	ULK4	NM_017886.4(ULK4):c.3411A>G:p.Ser1137=	coding	Benign
3	41566050	C	T	C41566050T	ULK4	NM_017886.4(ULK4):c.3201G>A:p.Ser1067=	coding	Benign
3	41800224	A	C	A41800224C	ULK4	NM_017886.4(ULK4):c.1918T>G:p.Ser640Ala	coding	Benign
3	41883904	A	G	A41883904G	ULK4	NM_017886.4(ULK4):c.1626T>C:p.Ala542=	coding	Benign
3	41883906	C	T	C41883906T	ULK4	NM_017886.4(ULK4):c.1624G>A:p.Ala542Thr	coding	Benign
3	41883931	T	C	T41883931C	ULK4	NM_017886.4(ULK4):c.1599A>G:p.Val533=	coding	Benign
3	41895508	C	T	C41895508T	ULK4	NM_017886.4(ULK4):c.1577+10G>A	noncoding	Benign
3	41897008	G	C	G41897008C	ULK4	NM_017886.4(ULK4):c.1349-5C>G	noncoding	Benign
3	41898501	T	A	T41898501A	ULK4	NM_017886.4(ULK4):c.1288-9A>T	noncoding	Benign
3	41900837	G	T	G41900837T	ULK4	NM_017886.4(ULK4):c.1183-8C>A	noncoding	Benign
3	41915974	T	G	T41915974G	ULK4	NM_017886.4(ULK4):c.803+3A>C	noncoding	Benign
3	41918514	T	C	T41918514C	ULK4	NM_017886.4(ULK4):c.670A>G:p.Ile224Val	coding	Benign
3	41954644	T	C	T41954644C	ULK4	NM_017886.4(ULK4):c.116A>G:p.Lys39Arg	coding	Benign
3	42091491	G	A	G42091491A	TRAK1	NM_001042646.3(TRAK1):c.22G>A:p.Gly8Arg	coding	Benign
3	42176807	C	G	C42176807G	TRAK1	NM_001042646.3(TRAK1):c.287-7C>G	noncoding	Benign
3	42176812	A	C	A42176812C	TRAK1	NM_001042646.3(TRAK1):c.287-2A>C	noncoding	Pathogenic
3	42176812	A	G	A42176812G	TRAK1	NM_001042646.3(TRAK1):c.287-2A>G	noncoding	Pathogenic
3	42201046	C	T	C42201046T	TRAK1	NM_001042646.3(TRAK1):c.1419C>T:p.Ala473=	coding	Benign
3	42223223	C	G	C42223223G	TRAK1	NM_001042646.3(TRAK1):c.2348C>G:p.Pro783Arg	coding	Benign/Likely_benign
3	42404114	A	G	A42404114G	LYZL4	NM_144634.4(LYZL4):c.303T>C:p.Asn101=	coding	Benign
3	42525927	G	A	G42525927A	VIPR1	NM_004624.4(VIPR1):c.333G>A:p.Thr111=	coding	Benign
3	42525971	A	G	A42525971G	VIPR1	NM_004624.4(VIPR1):c.377A>G:p.Asp126Gly	coding	Benign
3	42525981	G	A	G42525981A	VIPR1	NM_004624.4(VIPR1):c.387G>A:p.Ala129=	coding	Benign
3	42527470	C	T	C42527470T	VIPR1	NM_004624.4(VIPR1):c.477C>T:p.Val159=	coding	Benign
3	42528101	C	T	C42528101T	VIPR1	NM_004624.4(VIPR1):c.614C>T:p.Ser205Leu	coding	Benign
3	42535047	G	A	G42535047A	VIPR1	NM_004624.4(VIPR1):c.1083G>A:p.Pro361=	coding	Benign
3	42536101	G	A	G42536101A	VIPR1	NM_004624.4(VIPR1):c.1194G>A:p.Glu398=	coding	Benign
3	42536241	G	T	G42536241T	VIPR1	NM_004624.4(VIPR1):c.1334G>T:p.Arg445Leu	coding	Benign
3	42633618	T	G	T42633618G	NKTR	NM_005385.4(NKTR):c.812T>G:p.Val271Gly	coding	Benign
3	42685226	G	A	G42685226A	KLHL40	NC_000003.12:g.42685226G>A	noncoding	Benign
3	42685829	G	T	G42685829T	KLHL40	NM_152393.4(KLHL40):c.211G>T:p.Glu71Ter	coding	Pathogenic
3	42685895	G	C	G42685895C	KLHL40	NM_152393.4(KLHL40):c.277G>C:p.Glu93Gln	coding	Benign/Likely_benign
3	42685942	A	G	A42685942G	KLHL40	NM_152393.4(KLHL40):c.324A>G:p.Ala108=	coding	Benign
3	42686065	C	T	C42686065T	KLHL40	NM_152393.4(KLHL40):c.447C>T:p.Ala149=	coding	Benign/Likely_benign
3	42686218	G	A	G42686218A	KLHL40	NM_152393.4(KLHL40):c.600G>A:p.Arg200=	coding	Benign/Likely_benign
3	42686220	G	A	G42686220A	KLHL40	NM_152393.4(KLHL40):c.602G>A:p.Trp201Ter	coding	Pathogenic
3	42686220	G	T	G42686220T	KLHL40	NM_152393.4(KLHL40):c.602G>T:p.Trp201Leu	coding	Pathogenic
3	42686266	G	T	G42686266T	KLHL40	NM_152393.4(KLHL40):c.648G>T:p.Ala216=	coding	Benign/Likely_benign
3	42686490	A	C	A42686490C	KLHL40	NM_152393.4(KLHL40):c.872A>C:p.Lys291Thr	coding	Benign
3	42686652	A	G	A42686652G	KLHL40	NM_152393.4(KLHL40):c.1034A>G:p.Asn345Ser	coding	Benign
3	42686671	C	T	C42686671T	KLHL40	NM_152393.4(KLHL40):c.1053C>T:p.His351=	coding	Benign
3	42686722	C	T	C42686722T	KLHL40	NM_152393.4(KLHL40):c.1104C>T:p.Phe368=	coding	Benign
3	42688240	C	G	C42688240G	KLHL40	NM_152393.4(KLHL40):c.1251C>G:p.Val417=	coding	Benign
3	42688309	A	G	A42688309G	KLHL40	NM_152393.4(KLHL40):c.1313+7A>G	noncoding	Benign/Likely_benign
3	42688691	C	A	C42688691A	KLHL40	NM_152393.4(KLHL40):c.1395C>A:p.Tyr465Ter	coding	Pathogenic
3	42688701	G	T	G42688701T	KLHL40	NM_152393.4(KLHL40):c.1405G>T:p.Gly469Cys	coding	Pathogenic
3	42688726	G	A	G42688726A	KLHL40	NM_152393.4(KLHL40):c.1421+9G>A	noncoding	Benign
3	42688945	C	T	C42688945T	KLHL40	NM_152393.4(KLHL40):c.1498C>T:p.Arg500Cys	coding	Pathogenic/Likely_pathogenic
3	42688987	G	A	G42688987A	KLHL40	NM_152393.4(KLHL40):c.1540G>A:p.Val514Met	coding	Benign
3	42689029	G	A	G42689029A	KLHL40	NM_152393.4(KLHL40):c.1582G>A:p.Glu528Lys	coding	Pathogenic
3	42690641	A	G	A42690641G	KLHL40	NM_152393.4(KLHL40):c.1608-218A>G	noncoding	Benign
3	42690744	T	C	T42690744C	KLHL40	NM_152393.4(KLHL40):c.1608-115T>C	noncoding	Benign
3	42690863	G	C	G42690863C	KLHL40	NM_152393.4(KLHL40):c.1612G>C:p.Ala538Pro	coding	Pathogenic
3	42690871	C	T	C42690871T	KLHL40	NM_152393.4(KLHL40):c.1620C>T:p.Phe540=	coding	Benign
3	42690989	C	A	C42690989A	KLHL40	NM_152393.4(KLHL40):c.1738C>A:p.Leu580Ile	coding	Benign
3	42691682	G	C	G42691682C	KLHL40	NM_152393.4(KLHL40):c.1755-200G>C	noncoding	Benign
3	42691849	T	C	T42691849C	KLHL40	NM_152393.4(KLHL40):c.1755-33T>C	noncoding	Benign
3	42691928	G	A	G42691928A	KLHL40	NM_152393.4(KLHL40):c.1801G>A:p.Ala601Thr	coding	Benign
3	42691952	C	T	C42691952T	KLHL40	NM_152393.4(KLHL40):c.1825C>T:p.Leu609=	coding	Benign
3	42691976	T	C	T42691976C	KLHL40	NM_152393.4(KLHL40):c.1849T>C:p.Cys617Arg	coding	Benign
3	42874613	C	T	C42874613T	CYP8B1	NM_004391.3(CYP8B1):c.1204G>A:p.Val402Ile	coding	Benign
3	42874746	G	A	G42874746A	CYP8B1	NM_004391.3(CYP8B1):c.1071C>T:p.Leu357=	coding	Benign
3	42874748	G	A	G42874748A	CYP8B1	NM_004391.3(CYP8B1):c.1069C>T:p.Leu357Phe	coding	Benign
3	42875019	C	A	C42875019A	CYP8B1	NM_004391.3(CYP8B1):c.798G>T:p.Gly266=	coding	Benign
3	42875104	T	C	T42875104C	CYP8B1	NM_004391.3(CYP8B1):c.713A>G:p.Lys238Arg	coding	Benign
3	42875387	G	A	G42875387A	CYP8B1	NM_004391.3(CYP8B1):c.430C>T:p.Leu144=	coding	Benign
3	43032879	G	C	G43032879C	GASK1A	NM_001129908.3(GASK1A):c.616G>C:p.Ala206Pro	coding	Benign
3	43079687	C	T	C43079687T	POMGNT2	NM_032806.6(POMGNT2):c.*2G>A	noncoding	Benign
3	43079944	G	A	G43079944A	POMGNT2	NM_032806.6(POMGNT2):c.1488C>T:p.Gly496=	coding	Benign
3	43080047	C	A	C43080047A	POMGNT2	NM_032806.6(POMGNT2):c.1385G>T:p.Arg462Leu	coding	Benign
3	43080048	G	A	G43080048A	POMGNT2	NM_032806.6(POMGNT2):c.1384C>T:p.Arg462Trp	coding	Benign/Likely_benign
3	43080067	C	T	C43080067T	POMGNT2	NM_032806.6(POMGNT2):c.1365G>A:p.Pro455=	coding	Benign
3	43080099	G	A	G43080099A	POMGNT2	NM_032806.6(POMGNT2):c.1333C>T:p.Arg445Ter	coding	Pathogenic
3	43080199	C	T	C43080199T	POMGNT2	NM_032806.6(POMGNT2):c.1233G>A:p.Gln411=	coding	Benign
3	43080216	C	A	C43080216A	POMGNT2	NM_032806.6(POMGNT2):c.1216G>T:p.Glu406Ter	coding	Pathogenic
3	43080466	G	C	G43080466C	POMGNT2	NM_032806.6(POMGNT2):c.966C>G:p.Ser322=	coding	Benign/Likely_benign
3	43080670	C	T	C43080670T	POMGNT2	NM_032806.6(POMGNT2):c.762G>A:p.Lys254=	coding	Benign
3	43080674	G	A	G43080674A	POMGNT2	NM_032806.6(POMGNT2):c.758C>T:p.Pro253Leu	coding	Pathogenic
3	43080687	G	A	G43080687A	POMGNT2	NM_032806.6(POMGNT2):c.745C>T:p.Gln249Ter	coding	Pathogenic
3	43080842	C	T	C43080842T	POMGNT2	NM_032806.6(POMGNT2):c.590G>A:p.Trp197Ter	coding	Pathogenic
3	43080895	C	G	C43080895G	POMGNT2	NM_032806.6(POMGNT2):c.537G>C:p.Leu179=	coding	Benign
3	43080921	C	T	C43080921T	POMGNT2	NM_032806.6(POMGNT2):c.511G>A:p.Asp171Asn	coding	Pathogenic
3	43080938	A	G	A43080938G	POMGNT2	NM_032806.6(POMGNT2):c.494T>C:p.Met165Thr	coding	Pathogenic
3	43080959	C	T	C43080959T	POMGNT2	NM_032806.6(POMGNT2):c.473G>A:p.Arg158His	coding	Pathogenic/Likely_pathogenic
3	43081068	C	T	C43081068T	POMGNT2	NM_032806.6(POMGNT2):c.364G>A:p.Val122Met	coding	Benign/Likely_benign
3	43081193	C	T	C43081193T	POMGNT2	NM_032806.6(POMGNT2):c.239G>A:p.Arg80His	coding	Benign/Likely_benign
3	43081279	G	A	G43081279A	POMGNT2	NM_032806.6(POMGNT2):c.153C>T:p.Ile51=	coding	Benign/Likely_benign
3	43081474	G	A	G43081474A	POMGNT2	NM_032806.6(POMGNT2):c.-43C>T	noncoding	Benign
3	43105817	A	G	A43105817G	POMGNT2	NM_032806.6(POMGNT2):c.-106+19T>C	noncoding	Benign
3	43303224	G	T	G43303224T	SNRK	NM_017719.5(SNRK):c.21G>T:p.Gly7=	coding	Benign
3	43303248	A	G	A43303248G	SNRK	NM_017719.5(SNRK):c.45A>G:p.Leu15=	coding	Benign
3	43303615	A	C	A43303615C	SNRK	NM_017719.5(SNRK):c.412A>C:p.Arg138=	coding	Benign
3	43340293	C	T	C43340293T	SNRK	NM_017719.5(SNRK):c.738C>T:p.Ile246=	coding	Benign
3	43347747	C	T	C43347747T	SNRK	NM_017719.5(SNRK):c.1488C>T:p.Asp496=	coding	Benign
3	43348017	A	G	A43348017G	SNRK	NM_017719.5(SNRK):c.1758A>G:p.Pro586=	coding	Benign
3	43366462	G	A	G43366462A	ANO10	NM_018075.5(ANO10):c.*444C>T	noncoding	Benign
3	43366474	C	A	C43366474A	ANO10	NM_018075.5(ANO10):c.*432G>T	noncoding	Benign
3	43366710	G	T	G43366710T	ANO10	NM_018075.5(ANO10):c.*196C>A	noncoding	Benign
3	43372837	C	T	C43372837T	ANO10	NM_018075.5(ANO10):c.1915-5863G>A	coding	Benign
3	43549835	G	A	G43549835A	ANO10	NM_018075.5(ANO10):c.1682C>T:p.Thr561Met	coding	Benign
3	43549850	T	A	T43549850A	ANO10	NM_018075.5(ANO10):c.1669-2A>T	noncoding	Pathogenic
3	43549856	A	C	A43549856C	ANO10	NM_018075.5(ANO10):c.1669-8T>G	noncoding	Benign/Likely_benign
3	43555417	A	C	A43555417C	ANO10	NM_018075.5(ANO10):c.1529T>G:p.Leu510Arg	coding	Pathogenic
3	43561219	C	A	C43561219A	ANO10	NM_018075.5(ANO10):c.1476+1G>T	noncoding	Pathogenic
3	43561311	C	T	C43561311T	ANO10	NM_018075.5(ANO10):c.1385G>A:p.Arg462Gln	coding	Benign
3	43565644	T	C	T43565644C	ANO10	NM_018075.5(ANO10):c.1293+9A>G	noncoding	Benign
3	43576710	C	A	C43576710A	ANO10	NM_018075.5(ANO10):c.1144G>T:p.Glu382Ter	coding	Pathogenic
3	43576788	T	C	T43576788C	ANO10	NM_018075.5(ANO10):c.1066A>G:p.Ser356Gly	coding	Benign
3	43576829	C	T	C43576829T	ANO10	NM_018075.5(ANO10):c.1025G>A:p.Trp342Ter	coding	Pathogenic
3	43576845	A	C	A43576845C	ANO10	NM_018075.5(ANO10):c.1009T>G:p.Phe337Val	coding	Pathogenic
3	43577012	A	G	A43577012G	ANO10	NM_018075.5(ANO10):c.842T>C:p.Phe281Ser	coding	Benign
3	43577066	C	T	C43577066T	ANO10	NM_018075.5(ANO10):c.788G>A:p.Arg263His	coding	Benign
3	43577227	A	G	A43577227G	ANO10	NM_018075.5(ANO10):c.627T>C:p.Ala209=	coding	Benign
3	43580459	G	A	G43580459A	ANO10	NM_018075.5(ANO10):c.486C>T:p.Leu162=	coding	Benign
3	43580474	T	C	T43580474C	ANO10	NM_018075.5(ANO10):c.473-2A>G	noncoding	Pathogenic
3	43598668	T	C	T43598668C	ANO10	NM_018075.5(ANO10):c.338-2A>G	noncoding	Pathogenic/Likely_pathogenic
3	43600383	C	T	C43600383T	ANO10	NM_018075.5(ANO10):c.337+1G>A	noncoding	Pathogenic
3	43600415	G	T	G43600415T	ANO10	NM_018075.5(ANO10):c.306C>A:p.Tyr102Ter	coding	Pathogenic
3	43605779	T	G	T43605779G	ANO10	NM_018075.5(ANO10):c.74A>C:p.Gln25Pro	coding	Benign/Likely_benign
3	43605851	A	G	A43605851G	ANO10	NM_018075.5(ANO10):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
3	43621987	G	A	G43621987A	ANO10	NM_018075.5(ANO10):c.-90C>T	noncoding	Benign
3	43690974	C	T	C43690974T	ABHD5	NM_016006.6(ABHD5):c.-19C>T	noncoding	Benign
3	43691004	G	A	G43691004A	ABHD5	NM_016006.6(ABHD5):c.12G>A:p.Glu4=	coding	Benign
3	43691008	G	T	G43691008T	ABHD5	NM_016006.6(ABHD5):c.16G>T:p.Glu6Ter	coding	Pathogenic
3	43691011	G	A	G43691011A	ABHD5	NM_016006.6(ABHD5):c.19G>A:p.Glu7Lys	coding	Pathogenic
3	43691031	C	T	C43691031T	ABHD5	NM_016006.6(ABHD5):c.39C>T:p.Thr13=	coding	Benign/Likely_benign
3	43699326	C	G	C43699326G	ABHD5	NM_016006.6(ABHD5):c.98C>G:p.Ser33Ter	coding	Pathogenic
3	43702213	A	G	A43702213G	ABHD5	NM_016006.6(ABHD5):c.134-2A>G	noncoding	Pathogenic
3	43702283	T	C	T43702283C	ABHD5	NM_016006.6(ABHD5):c.202T>C:p.Phe68Leu	coding	Benign
3	43702296	T	C	T43702296C	ABHD5	NM_016006.6(ABHD5):c.215T>C:p.Ile72Thr	coding	Benign/Likely_benign
3	43702421	C	T	C43702421T	ABHD5	NM_016006.6(ABHD5):c.340C>T:p.Arg114Ter	coding	Pathogenic
3	43702422	G	T	G43702422T	ABHD5	NM_016006.6(ABHD5):c.341G>T:p.Arg114Leu	coding	Benign/Likely_benign
3	43702470	A	C	A43702470C	ABHD5	NM_016006.6(ABHD5):c.389A>C:p.Gln130Pro	coding	Pathogenic
3	43711752	C	T	C43711752T	ABHD5	NM_016006.6(ABHD5):c.550C>T:p.Arg184Ter	coding	Pathogenic
3	43717670	G	A	G43717670A	ABHD5	NM_016006.6(ABHD5):c.774-1G>A	noncoding	Pathogenic
3	43717675	G	A	G43717675A	ABHD5	NM_016006.6(ABHD5):c.778G>A:p.Glu260Lys	coding	Pathogenic
3	43717707	T	A	T43717707A	ABHD5	NM_016006.6(ABHD5):c.810T>A:p.Tyr270Ter	coding	Pathogenic
3	43717708	G	A	G43717708A	ABHD5	NM_016006.6(ABHD5):c.811G>A:p.Gly271Arg	coding	Pathogenic
3	43717831	C	T	C43717831T	ABHD5	NM_016006.6(ABHD5):c.934C>T:p.Arg312Ter	coding	Pathogenic
3	43718570	T	G	T43718570G	ABHD5	NM_016006.6(ABHD5):c.*38T>G	noncoding	Benign
3	43718813	C	A	C43718813A	ABHD5	NM_016006.6(ABHD5):c.*281C>A	noncoding	Benign
3	43719642	G	C	G43719642C	ABHD5	NM_016006.6(ABHD5):c.*1110G>C	noncoding	Benign
3	43719949	A	G	A43719949G	ABHD5	NM_016006.6(ABHD5):c.*1417A>G	noncoding	Benign
3	43720145	T	C	T43720145C	ABHD5	NM_016006.6(ABHD5):c.*1613T>C	noncoding	Benign
3	43720194	A	G	A43720194G	ABHD5	NM_016006.6(ABHD5):c.*1662A>G	noncoding	Benign
3	43720288	G	T	G43720288T	ABHD5	NM_016006.6(ABHD5):c.*1756G>T	noncoding	Benign
3	43720289	A	G	A43720289G	ABHD5	NM_016006.6(ABHD5):c.*1757A>G	noncoding	Benign
3	43720366	C	G	C43720366G	ABHD5	NM_016006.6(ABHD5):c.*1834C>G	noncoding	Benign
3	43720395	G	A	G43720395A	ABHD5	NM_016006.6(ABHD5):c.*1863G>A	noncoding	Benign
3	43720669	A	G	A43720669G	ABHD5	NM_016006.6(ABHD5):c.*2137A>G	noncoding	Benign
3	43720856	G	T	G43720856T	ABHD5	NM_016006.6(ABHD5):c.*2324G>T	noncoding	Benign
3	43720995	A	G	A43720995G	ABHD5	NM_016006.6(ABHD5):c.*2463A>G	noncoding	Benign
3	43721040	A	G	A43721040G	ABHD5	NM_016006.6(ABHD5):c.*2508A>G	noncoding	Benign
3	44243654	A	G	A44243654G	TOPAZ1	NM_001145030.2(TOPAZ1):c.1148A>G:p.Lys383Arg	coding	Benign
3	44244715	A	G	A44244715G	TOPAZ1	NM_001145030.2(TOPAZ1):c.2209A>G:p.Met737Val	coding	Benign
3	44245140	T	C	T44245140C	TOPAZ1	NM_001145030.2(TOPAZ1):c.2634T>C:p.Asn878=	coding	Benign
3	44304029	G	A	G44304029A	TOPAZ1	NM_001145030.2(TOPAZ1):c.3812G>A:p.Arg1271Gln	coding	Benign
3	44306341	A	G	A44306341G	TOPAZ1	NM_001145030.2(TOPAZ1):c.4055A>G:p.Gln1352Arg	coding	Benign
3	44321172	A	C	A44321172C	TOPAZ1	NM_001145030.2(TOPAZ1):c.4452A>C:p.Pro1484=	coding	Benign
3	44800391	G	C	G44800391C	KIF15	NM_020242.3(KIF15):c.1176G>C:p.Ala392=	coding	Benign
3	44801451	C	A	C44801451A	KIF15	NM_020242.3(KIF15):c.1224C>A:p.Asp408Glu	coding	Benign
3	44801948	A	G	A44801948G	KIF15	NM_020242.3(KIF15):c.1483A>G:p.Asn495Asp	coding	Benign
3	44813068	C	T	C44813068T	KIF15	NM_020242.3(KIF15):c.2278-7C>T	noncoding	Benign
3	44813122	T	G	T44813122G	KIF15	NM_020242.3(KIF15):c.2325T>G:p.Leu775=	coding	Benign
3	44815007	A	G	A44815007G	KIF15	NM_020242.3(KIF15):c.2480A>G:p.Asn827Ser	coding	Benign
3	44826033	A	G	A44826033G	KIF15	NM_020242.3(KIF15):c.2550-6A>G	noncoding	Benign
3	44826100	C	G	C44826100G	KIF15	NM_020242.3(KIF15):c.2611C>G:p.Gln871Glu	coding	Benign
3	44830889	T	C	T44830889C	KIF15	NM_020242.3(KIF15):c.3049-7T>C	noncoding	Benign
3	44830958	A	G	A44830958G	KIF15	NM_020242.3(KIF15):c.3111A>G:p.Glu1037=	coding	Benign
3	44838351	C	T	C44838351T	KIF15	NM_020242.3(KIF15):c.3248C>T:p.Ser1083Leu	coding	Benign
3	44841094	C	G	C44841094G	KIF15	NM_020242.3(KIF15):c.3441C>G:p.His1147Gln	coding	Benign
3	44851796	A	C	A44851796C	KIF15	NM_020242.3(KIF15):c.3816A>C:p.Glu1272Asp	coding	Benign
3	44852693	C	T	C44852693T	KIF15	NM_020242.3(KIF15):c.4125C>T:p.Ala1375=	coding	Benign
3	44885368	C	T	C44885368T	TGM4	NM_003241.4(TGM4):c.63C>T:p.Ala21=	coding	Benign
3	44885414	C	A	C44885414A	TGM4	NM_003241.4(TGM4):c.109C>A:p.Arg37=	coding	Benign
3	44906988	G	A	G44906988A	TGM4	NM_003241.4(TGM4):c.1115G>A:p.Arg372His	coding	Benign
3	44907055	C	T	C44907055T	TGM4	NM_003241.4(TGM4):c.1182C>T:p.Leu394=	coding	Benign
3	45085861	C	T	C45085861T	CDCP1	NM_022842.5(CDCP1):c.2288G>A:p.Arg763Gln	coding	Benign
3	45091380	C	T	C45091380T	CDCP1	NM_022842.5(CDCP1):c.1786G>A:p.Gly596Ser	coding	Benign
3	45110579	C	T	C45110579T	CDCP1	NM_022842.5(CDCP1):c.918G>A:p.Ala306=	coding	Benign
3	45391634	G	A	G45391634A	LARS2	NM_015340.4(LARS2):c.-36G>A	noncoding	Benign
3	45394475	T	C	T45394475C	LARS2	NM_015340.4(LARS2):c.22T>C:p.Leu8=	coding	Benign
3	45394610	T	C	T45394610C	LARS2	NM_015340.4(LARS2):c.157T>C:p.Leu53=	coding	Benign
3	45394981	G	A	G45394981A	LARS2	NM_015340.4(LARS2):c.234+294G>A	noncoding	Benign
3	45400233	G	A	G45400233A	LARS2	NM_015340.4(LARS2):c.235-12G>A	noncoding	Benign/Likely_benign
3	45400265	C	T	C45400265T	LARS2	NM_015340.4(LARS2):c.255C>T:p.Tyr85=	coding	Benign/Likely_benign
3	45417241	A	G	A45417241G	LARS2	NM_015340.4(LARS2):c.364-241A>G	noncoding	Benign
3	45417259	C	T	C45417259T	LARS2	NM_015340.4(LARS2):c.364-223C>T	noncoding	Benign
3	45417489	A	T	A45417489T	LARS2	NM_015340.4(LARS2):c.371A>T:p.Asn124Ile	coding	Pathogenic
3	45417795	T	G	T45417795G	LARS2	NM_015340.4(LARS2):c.455+222T>G	noncoding	Benign
3	45419422	T	C	T45419422C	LARS2	NM_015340.4(LARS2):c.456-247T>C	noncoding	Benign
3	45419867	A	G	A45419867G	LARS2	NM_015340.4(LARS2):c.516+138A>G	noncoding	Benign
3	45419991	A	G	A45419991G	LARS2	NM_015340.4(LARS2):c.516+262A>G	noncoding	Benign
3	45474156	T	C	T45474156C	LARS2	NM_015340.4(LARS2):c.751-87T>C	noncoding	Benign
3	45474257	G	A	G45474257A	LARS2	NM_015340.4(LARS2):c.765G>A:p.Ala255=	coding	Benign/Likely_benign
3	45476267	G	A	G45476267A	LARS2	NM_015340.4(LARS2):c.859-201G>A	noncoding	Benign
3	45476307	T	C	T45476307C	LARS2	NM_015340.4(LARS2):c.859-161T>C	noncoding	Benign
3	45476508	C	T	C45476508T	LARS2	NM_015340.4(LARS2):c.899C>T:p.Thr300Met	coding	Pathogenic
3	45476554	G	C	G45476554C	LARS2	NM_015340.4(LARS2):c.945G>C:p.Ser315=	coding	Benign
3	45476581	C	A	C45476581A	LARS2	NM_015340.4(LARS2):c.972C>A:p.His324Gln	coding	Benign
3	45485607	C	G	C45485607G	LARS2	NM_015340.4(LARS2):c.1019-85C>G	noncoding	Benign
3	45485726	T	C	T45485726C	LARS2	NM_015340.4(LARS2):c.1053T>C:p.Leu351=	coding	Benign
3	45485992	T	C	T45485992C	LARS2	NM_015340.4(LARS2):c.1123+196T>C	noncoding	Benign
3	45486016	T	G	T45486016G	LARS2	NM_015340.4(LARS2):c.1123+220T>G	noncoding	Benign
3	45488704	C	T	C45488704T	LARS2	NM_015340.4(LARS2):c.1131C>T:p.Pro377=	coding	Benign
3	45488770	A	G	A45488770G	LARS2	NM_015340.4(LARS2):c.1197A>G:p.Glu399=	coding	Benign
3	45488909	G	A	G45488909A	LARS2	NM_015340.4(LARS2):c.1239+97G>A	noncoding	Benign
3	45491566	C	T	C45491566T	LARS2	NM_015340.4(LARS2):c.1289C>T:p.Ala430Val	coding	Pathogenic
3	45491732	G	A	G45491732A	LARS2	NM_015340.4(LARS2):c.1455G>A:p.Ala485=	coding	Benign
3	45496316	C	A	C45496316A	LARS2	NM_015340.4(LARS2):c.1565C>A:p.Thr522Asn	coding	Pathogenic/Likely_pathogenic
3	45496381	G	A	G45496381A	LARS2	NM_015340.4(LARS2):c.1622+8G>A	noncoding	Benign/Likely_benign
3	45496416	G	A	G45496416A	LARS2	NM_015340.4(LARS2):c.1622+43G>A	noncoding	Benign
3	45500511	C	T	C45500511T	LARS2	NM_015340.4(LARS2):c.1692C>T:p.Ala564=	coding	Benign/Likely_benign
3	45500591	T	C	T45500591C	LARS2	NM_015340.4(LARS2):c.1760+12T>C	noncoding	Benign
3	45513153	G	C	G45513153C	LARS2	NM_015340.4(LARS2):c.1779G>C:p.Leu593=	coding	Benign/Likely_benign
3	45513552	C	A	C45513552A	LARS2	NM_015340.4(LARS2):c.1861+317C>A	noncoding	Benign
3	45516118	C	T	C45516118T	LARS2	NM_015340.4(LARS2):c.1886C>T:p.Thr629Met	coding	Pathogenic
3	45516144	G	A	G45516144A	LARS2	NM_015340.4(LARS2):c.1912G>A:p.Glu638Lys	coding	Pathogenic
3	45516215	G	A	G45516215A	LARS2	NM_015340.4(LARS2):c.1983G>A:p.Thr661=	coding	Benign
3	45516219	C	T	C45516219T	LARS2	NM_015340.4(LARS2):c.1987C>T:p.Arg663Trp	coding	Pathogenic
3	45517982	T	C	T45517982C	LARS2	NM_015340.4(LARS2):c.2124T>C:p.Ser708=	coding	Benign
3	45518027	T	C	T45518027C	LARS2	NM_015340.4(LARS2):c.2169T>C:p.Ala723=	coding	Benign
3	45518039	G	T	G45518039T	LARS2	NM_015340.4(LARS2):c.2181G>T:p.Lys727Asn	coding	Benign
3	45518129	C	T	C45518129T	LARS2	NM_015340.4(LARS2):c.2214+57C>T	noncoding	Benign
3	45519995	C	T	C45519995T	LARS2	NM_015340.4(LARS2):c.2215-224C>T	noncoding	Benign
3	45524011	C	T	C45524011T	LARS2	NM_015340.4(LARS2):c.2307C>T:p.Ser769=	coding	Benign/Likely_benign
3	45524062	A	G	A45524062G	LARS2	NM_015340.4(LARS2):c.2358A>G:p.Val786=	coding	Benign
3	45524373	G	A	G45524373A	LARS2	NM_015340.4(LARS2):c.2404+265G>A	noncoding	Benign
3	45541805	C	T	C45541805T	LARS2	NM_015340.4(LARS2):c.2405-24C>T	noncoding	Benign
3	45541917	G	T	G45541917T	LARS2	NM_015340.4(LARS2):c.2493G>T:p.Glu831Asp	coding	Benign
3	45547365	T	C	T45547365C	LARS2	NM_015340.4(LARS2):c.2547T>C:p.Ala849=	coding	Benign
3	45596139	C	T	C45596139T	LIMD1	NM_014240.3(LIMD1):c.1260C>T:p.Asp420=	coding	Benign
3	45596273	A	G	A45596273G	LIMD1	NM_014240.3(LIMD1):c.1394A>G:p.Lys465Arg	coding	Benign
3	45755459	C	T	C45755459T	SLC6A20	NM_020208.4(SLC6A20):c.*3519G>A	noncoding	Benign
3	45755860	T	C	T45755860C	SLC6A20	NM_020208.4(SLC6A20):c.*3118A>G	noncoding	Benign
3	45756293	A	G	A45756293G	SLC6A20	NM_020208.4(SLC6A20):c.*2685T>C	noncoding	Benign
3	45756499	T	C	T45756499C	SLC6A20	NM_020208.4(SLC6A20):c.*2479A>G	noncoding	Benign
3	45756734	C	T	C45756734T	SLC6A20	NM_020208.4(SLC6A20):c.*2244G>A	noncoding	Benign
3	45757786	A	G	A45757786G	SLC6A20	NM_020208.4(SLC6A20):c.*1192T>C	noncoding	Benign
3	45757792	A	G	A45757792G	SLC6A20	NM_020208.4(SLC6A20):c.*1186T>C	noncoding	Benign
3	45758379	C	T	C45758379T	SLC6A20	NM_020208.4(SLC6A20):c.*599G>A	noncoding	Benign
3	45758441	A	G	A45758441G	SLC6A20	NM_020208.4(SLC6A20):c.*537T>C	noncoding	Benign
3	45762899	C	T	C45762899T	SLC6A20	NM_020208.4(SLC6A20):c.1463+14G>A	noncoding	Benign
3	45771294	G	A	G45771294A	SLC6A20	NM_020208.4(SLC6A20):c.858C>T:p.Thr286=	coding	Benign
3	45772501	G	A	G45772501A	SLC6A20	NM_020208.4(SLC6A20):c.693+4C>T	noncoding	Benign
3	45772602	G	A	G45772602A	SLC6A20	NM_020208.4(SLC6A20):c.596C>T:p.Thr199Met	coding	Benign
3	45775836	C	T	C45775836T	SLC6A20	NM_020208.4(SLC6A20):c.507G>A:p.Glu169=	coding	Benign
3	45775926	A	G	A45775926G	SLC6A20	NM_020208.4(SLC6A20):c.417T>C:p.Cys139=	coding	Benign
3	45780081	G	C	G45780081C	SLC6A20	NM_020208.4(SLC6A20):c.282C>G:p.Val94=	coding	Benign
3	45796394	G	C	G45796394C	SLC6A20	NM_020208.4(SLC6A20):c.26C>G:p.Ala9Gly	coding	Benign
3	45796521	G	T	G45796521T	SLC6A20	NM_020208.4(SLC6A20):c.-102C>A	noncoding	Benign
3	45827459	C	A	C45827459A	LZTFL1	NM_020347.4(LZTFL1):c.778G>T:p.Glu260Ter	coding	Pathogenic
3	45834246	T	G	T45834246G	LZTFL1	NM_020347.4(LZTFL1):c.376A>C:p.Asn126His	coding	Benign
3	45835591	G	A	G45835591A	LZTFL1	NM_020347.4(LZTFL1):c.322C>T:p.Arg108Ter	coding	Pathogenic
3	45835653	A	G	A45835653G	LZTFL1	NM_020347.4(LZTFL1):c.260T>C:p.Leu87Pro	coding	Pathogenic
3	45901194	C	T	C45901194T	CCR9	NM_031200.3(CCR9):c.406C>T:p.Leu136=	coding	Benign
3	45918023	A	T	A45918023T	FYCO1	NM_024513.4(FYCO1):c.*3742T>A	noncoding	Benign
3	45918267	T	C	T45918267C	FYCO1	NM_024513.4(FYCO1):c.*3498A>G	noncoding	Benign
3	45918326	T	A	T45918326A	FYCO1	NM_024513.4(FYCO1):c.*3439A>T	noncoding	Benign
3	45918587	C	A	C45918587A	FYCO1	NM_024513.4(FYCO1):c.*3178G>T	noncoding	Benign
3	45918928	G	C	G45918928C	FYCO1	NM_024513.4(FYCO1):c.*2837C>G	noncoding	Benign
3	45919070	T	A	T45919070A	FYCO1	NM_024513.4(FYCO1):c.*2695A>T	noncoding	Benign
3	45919154	T	C	T45919154C	FYCO1	NM_024513.4(FYCO1):c.*2611A>G	noncoding	Benign
3	45919208	C	T	C45919208T	FYCO1	NM_024513.4(FYCO1):c.*2557G>A	noncoding	Benign
3	45919359	C	T	C45919359T	FYCO1	NM_024513.4(FYCO1):c.*2406G>A	noncoding	Benign
3	45919705	G	T	G45919705T	FYCO1	NM_024513.4(FYCO1):c.*2060C>A	noncoding	Benign
3	45920346	G	A	G45920346A	FYCO1	NM_024513.4(FYCO1):c.*1419C>T	noncoding	Benign
3	45920350	C	T	C45920350T	FYCO1	NM_024513.4(FYCO1):c.*1415G>A	noncoding	Benign
3	45920462	G	C	G45920462C	FYCO1	NM_024513.4(FYCO1):c.*1303C>G	noncoding	Benign
3	45920709	G	A	G45920709A	FYCO1	NM_024513.4(FYCO1):c.*1056C>T	noncoding	Benign
3	45921103	C	G	C45921103G	FYCO1	NM_024513.4(FYCO1):c.*662G>C	noncoding	Benign
3	45921111	A	G	A45921111G	FYCO1	NM_024513.4(FYCO1):c.*654T>C	noncoding	Benign
3	45921260	T	C	T45921260C	FYCO1	NM_024513.4(FYCO1):c.*505A>G	noncoding	Benign
3	45921299	G	A	G45921299A	FYCO1	NM_024513.4(FYCO1):c.*466C>T	noncoding	Benign
3	45921310	T	C	T45921310C	FYCO1	NM_024513.4(FYCO1):c.*455A>G	noncoding	Benign
3	45921450	C	T	C45921450T	FYCO1	NM_024513.4(FYCO1):c.*315G>A	noncoding	Benign
3	45921457	T	C	T45921457C	FYCO1	NM_024513.4(FYCO1):c.*308A>G	noncoding	Benign
3	45921574	C	T	C45921574T	FYCO1	NM_024513.4(FYCO1):c.*191G>A	noncoding	Benign
3	45921744	G	A	G45921744A	FYCO1	NM_024513.4(FYCO1):c.*21C>T	noncoding	Benign
3	45923698	G	A	G45923698A	FYCO1	NM_024513.4(FYCO1):c.4319C>T:p.Thr1440Ile	coding	Benign/Likely_benign
3	45923752	G	A	G45923752A	FYCO1	NM_024513.4(FYCO1):c.4265C>T:p.Thr1422Met	coding	Benign
3	45931175	C	T	C45931175T	FYCO1	NM_024513.4(FYCO1):c.4147G>A:p.Glu1383Lys	coding	Benign
3	45931176	G	A	G45931176A	FYCO1	NM_024513.4(FYCO1):c.4146C>T:p.Ala1382=	coding	Benign
3	45931195	A	G	A45931195G	FYCO1	NM_024513.4(FYCO1):c.4127T>C:p.Leu1376Pro	coding	Pathogenic
3	45931236	C	T	C45931236T	FYCO1	NM_024513.4(FYCO1):c.4086G>A:p.Glu1362=	coding	Benign
3	45947033	C	T	C45947033T	CXCR6	NM_006564.2(CXCR6):c.552C>T:p.Asp184=	coding	Benign
3	45947183	C	T	C45947183T	CXCR6	NM_006564.2(CXCR6):c.702C>T:p.Phe234=	coding	Benign
3	45955269	G	A	G45955269A	FYCO1	NM_024513.4(FYCO1):c.3924C>T:p.Leu1308=	coding	Benign
3	45958418	T	C	T45958418C	FYCO1	NM_024513.4(FYCO1):c.3789A>G:p.Thr1263=	coding	Benign
3	45958428	G	C	G45958428C	FYCO1	NM_024513.4(FYCO1):c.3779C>G:p.Pro1260Arg	coding	Benign/Likely_benign
3	45958502	G	T	G45958502T	FYCO1	NM_024513.4(FYCO1):c.3705C>A:p.Gly1235=	coding	Benign/Likely_benign
3	45959378	G	A	G45959378A	FYCO1	NM_024513.4(FYCO1):c.3587+15C>T	noncoding	Benign
3	45962243	C	T	C45962243T	FYCO1	NM_024513.4(FYCO1):c.3419G>A:p.Arg1140Gln	coding	Benign
3	45964371	G	T	G45964371T	FYCO1	NM_024513.4(FYCO1):c.3234C>A:p.Asp1078Glu	coding	Benign
3	45964393	T	C	T45964393C	FYCO1	NM_024513.4(FYCO1):c.3212A>G:p.Gln1071Arg	coding	Benign
3	45965111	C	G	C45965111G	FYCO1	NM_024513.4(FYCO1):c.3072G>C:p.Glu1024Asp	coding	Benign
3	45966331	G	T	G45966331T	FYCO1	NM_024513.4(FYCO1):c.3003C>A:p.Asn1001Lys	coding	Benign
3	45966333	T	C	T45966333C	FYCO1	NM_024513.4(FYCO1):c.3001A>G:p.Asn1001Asp	coding	Benign
3	45966354	C	T	C45966354T	FYCO1	NM_024513.4(FYCO1):c.2980G>A:p.Glu994Lys	coding	Benign
3	45966520	C	T	C45966520T	FYCO1	NM_024513.4(FYCO1):c.2814G>A:p.Glu938=	coding	Benign/Likely_benign
3	45966528	C	T	C45966528T	FYCO1	NM_024513.4(FYCO1):c.2806G>A:p.Ala936Thr	coding	Benign
3	45966585	C	T	C45966585T	FYCO1	NM_024513.4(FYCO1):c.2749G>A:p.Val917Met	coding	Benign
3	45966595	G	A	G45966595A	FYCO1	NM_024513.4(FYCO1):c.2739C>T:p.Cys913=	coding	Benign
3	45966616	A	G	A45966616G	FYCO1	NM_024513.4(FYCO1):c.2718T>C:p.Ala906=	coding	Benign
3	45967040	C	T	C45967040T	FYCO1	NM_024513.4(FYCO1):c.2294G>A:p.Arg765His	coding	Benign
3	45967128	G	A	G45967128A	FYCO1	NM_024513.4(FYCO1):c.2206C>T:p.Gln736Ter	coding	Pathogenic
3	45967155	G	T	G45967155T	FYCO1	NM_024513.4(FYCO1):c.2179C>A:p.His727Asn	coding	Benign
3	45967298	G	A	G45967298A	FYCO1	NM_024513.4(FYCO1):c.2036C>T:p.Ala679Val	coding	Benign
3	45967491	G	A	G45967491A	FYCO1	NM_024513.4(FYCO1):c.1843C>T:p.Arg615Trp	coding	Benign
3	45967788	G	A	G45967788A	FYCO1	NM_024513.4(FYCO1):c.1546C>T:p.Gln516Ter	coding	Pathogenic
3	45967796	C	T	C45967796T	FYCO1	NM_024513.4(FYCO1):c.1538G>A:p.Arg513Gln	coding	Benign
3	45967860	G	A	G45967860A	FYCO1	NM_024513.4(FYCO1):c.1474C>T:p.Arg492Trp	coding	Benign/Likely_benign
3	45967895	G	A	G45967895A	FYCO1	NM_024513.4(FYCO1):c.1439C>T:p.Thr480Met	coding	Benign/Likely_benign
3	45967923	G	A	G45967923A	FYCO1	NM_024513.4(FYCO1):c.1411C>T:p.Arg471Ter	coding	Pathogenic
3	45967995	G	A	G45967995A	FYCO1	NM_024513.4(FYCO1):c.1339C>T:p.Arg447Cys	coding	Benign
3	45967999	C	T	C45967999T	FYCO1	NM_024513.4(FYCO1):c.1335G>A:p.Leu445=	coding	Benign
3	45968009	C	T	C45968009T	FYCO1	NM_024513.4(FYCO1):c.1325G>A:p.Arg442Gln	coding	Benign
3	45968128	C	T	C45968128T	FYCO1	NM_024513.4(FYCO1):c.1206G>A:p.Glu402=	coding	Benign
3	45968192	G	A	G45968192A	FYCO1	NM_024513.4(FYCO1):c.1142C>T:p.Thr381Met	coding	Benign
3	45968271	G	A	G45968271A	FYCO1	NM_024513.4(FYCO1):c.1063C>T:p.Arg355Trp	coding	Benign
3	45968289	G	A	G45968289A	FYCO1	NM_024513.4(FYCO1):c.1045C>T:p.Gln349Ter	coding	Pathogenic
3	45968318	C	T	C45968318T	FYCO1	NM_024513.4(FYCO1):c.1016G>A:p.Arg339Gln	coding	Benign
3	45968372	C	G	C45968372G	FYCO1	NM_024513.4(FYCO1):c.962G>C:p.Gly321Ala	coding	Benign
3	45968489	C	T	C45968489T	FYCO1	NM_024513.4(FYCO1):c.845G>A:p.Arg282His	coding	Benign
3	45968515	T	C	T45968515C	FYCO1	NM_024513.4(FYCO1):c.819A>G:p.Gln273=	coding	Benign
3	45968585	C	T	C45968585T	FYCO1	NM_024513.4(FYCO1):c.749G>A:p.Arg250Gln	coding	Benign
3	45968621	T	G	T45968621G	FYCO1	NM_024513.4(FYCO1):c.713A>C:p.Glu238Ala	coding	Benign
3	45968687	G	A	G45968687A	FYCO1	NM_024513.4(FYCO1):c.647C>T:p.Ser216Phe	coding	Benign
3	45969660	C	A	C45969660A	FYCO1	NM_024513.4(FYCO1):c.630+15G>T	noncoding	Benign
3	45975359	A	T	A45975359T	FYCO1	NM_024513.4(FYCO1):c.289-14T>A	noncoding	Benign
3	45979726	G	T	G45979726T	FYCO1	NM_024513.4(FYCO1):c.267C>A:p.Arg89=	coding	Benign
3	46203247	C	T	C46203247T	CCR1	NM_001295.3(CCR1):c.1067G>A:p.Ter356=	coding	Benign
3	46203300	C	T	C46203300T	CCR1	NM_001295.3(CCR1):c.1014G>A:p.Arg338=	coding	Benign
3	46203411	G	A	G46203411A	CCR1	NM_001295.3(CCR1):c.903C>T:p.Tyr301=	coding	Benign
3	46203443	A	G	A46203443G	CCR1	NM_001295.3(CCR1):c.871T>C:p.Tyr291His	coding	Benign
3	46203933	C	T	C46203933T	CCR1	NM_001295.3(CCR1):c.381G>A:p.Leu127=	coding	Benign
3	46204152	C	G	C46204152G	CCR1	NM_001295.3(CCR1):c.162G>C:p.Leu54=	coding	Benign
3	46357683	G	T	G46357683T	CCR2	NM_001123041.2(CCR2):c.156G>T:p.Val52=	coding	Benign
3	46373570	G	A	G46373570A	CCR5	NM_000579.3(CCR5):c.668G>A:p.Arg223Gln	coding	Benign
3	46373906	C	T	C46373906T	CCR5	NM_000579.3(CCR5):c.1004C>T:p.Ala335Val	coding	Benign
3	46409113	A	C	A46409113C	CCRL2	NM_003965.5(CCRL2):c.1034A>C:p.Ter345Ser	coding	Benign
3	46445350	C	A	C46445350A	LTF	NM_002343.6(LTF):c.1444G>T:p.Val482Leu	coding	Benign
3	46446446	C	T	C46446446T	LTF	NM_002343.6(LTF):c.1351G>A:p.Val451Met	coding	Benign
3	46455420	G	A	G46455420A	LTF	NM_002343.6(LTF):c.522C>T:p.Ala174=	coding	Benign
3	46455878	G	T	G46455878T	LTF	NM_002343.6(LTF):c.417C>A:p.Arg139=	coding	Benign
3	46459678	A	T	A46459678T	LTF	NM_002343.6(LTF):c.185T>A:p.Ile62Asn	coding	Benign
3	46521579	G	A	G46521579A	LRRC2	NM_024512.5(LRRC2):c.1009C>T:p.Arg337Cys	coding	Benign
3	46521635	G	A	G46521635A	LRRC2	NM_024512.5(LRRC2):c.953C>T:p.Pro318Leu	coding	Benign
3	46532867	T	G	T46532867G	LRRC2	NM_024512.5(LRRC2):c.533A>C:p.Tyr178Ser	coding	Benign
3	46539186	A	T	A46539186T	LRRC2	NM_024512.5(LRRC2):c.349T>A:p.Leu117Met	coding	Benign
3	46579809	T	G	T46579809G	TDGF1	NM_003212.4(TDGF1):c.294T>G:p.Pro98=	coding	Benign
3	46579846	C	G	C46579846G	TDGF1	NM_003212.4(TDGF1):c.331C>G:p.Arg111Gly	coding	Benign
3	46579943	A	G	A46579943G	TDGF1	NM_003212.4(TDGF1):c.339-8A>G	noncoding	Benign
3	46579986	C	T	C46579986T	TDGF1	NM_003212.4(TDGF1):c.374C>T:p.Pro125Leu	coding	Pathogenic
3	46581136	C	G	C46581136G	TDGF1	NM_003212.4(TDGF1):c.453C>G:p.Gly151=	coding	Benign
3	46701451	C	A	C46701451A	TMIE	NM_147196.2(TMIE):c.-37C>A	noncoding	Benign/Likely_benign
3	46701579	A	G	A46701579G	TMIE	NM_147196.2(TMIE):c.92A>G:p.Glu31Gly	coding	Pathogenic
3	46705866	G	A	G46705866A	TMIE	NM_147196.2(TMIE):c.170G>A:p.Trp57Ter	coding	Pathogenic
3	46709155	C	T	C46709155T	TMIE	NM_147196.2(TMIE):c.241C>T:p.Arg81Cys	coding	Pathogenic
3	46709164	C	T	C46709164T	TMIE	NM_147196.2(TMIE):c.250C>T:p.Arg84Trp	coding	Pathogenic
3	46710663	G	A	G46710663A	TMIE	NM_147196.2(TMIE):c.*975G>A	noncoding	Benign
3	46714257	G	A	G46714257A	PRSS50	NM_013270.5(PRSS50):c.715C>T:p.Arg239Cys	coding	Benign
3	46717452	C	T	C46717452T	PRSS50	NM_013270.5(PRSS50):c.292G>A:p.Val98Ile	coding	Benign
3	46858026	C	T	C46858026T	MYL3	NM_000258.2(MYL3):c.*89G>A	noncoding	Benign
3	46858235	G	A	G46858235A	MYL3	NM_000258.3(MYL3):c.*9C>T	noncoding	Benign
3	46858241	G	A	G46858241A	MYL3	NM_000258.3(MYL3):c.*3C>T	noncoding	Benign
3	46858365	C	T	C46858365T	MYL3	NM_000258.2(MYL3):c.559+19G>A	noncoding	Benign
3	46858378	G	A	G46858378A	MYL3	NM_000258.3(MYL3):c.559+6C>T	noncoding	Benign/Likely_benign
3	46858475	G	T	G46858475T	MYL3	NM_000258.3(MYL3):c.482-14C>A	noncoding	Benign/Likely_benign
3	46858478	G	A	G46858478A	MYL3	NM_000258.2(MYL3):c.482-17C>T	noncoding	Benign
3	46859479	C	A	C46859479A	MYL3	NM_000258.3(MYL3):c.477G>T:p.Thr159=	coding	Benign/Likely_benign
3	46859493	G	C	G46859493C	MYL3	NM_000258.2(MYL3):c.463C>G:p.His155Asp	coding	Pathogenic/Likely_pathogenic
3	46859511	T	C	T46859511C	MYL3	NM_000258.2(MYL3):c.445A>G:p.Met149Val	coding	Pathogenic
3	46859545	C	A	C46859545A	MYL3	NM_000258.2(MYL3):c.411G>T:p.Leu137=	coding	Benign/Likely_benign
3	46859575	T	G	T46859575G	MYL3	NM_000258.2(MYL3):c.381A>C:p.Thr127=	coding	Benign
3	46859905	C	T	C46859905T	MYL3	NM_000258.2(MYL3):c.308-257G>A	noncoding	Benign
3	46860639	T	G	T46860639G	MYL3	NM_000258.2(MYL3):c.307+37A>C	noncoding	Benign
3	46860697	G	A	G46860697A	MYL3	NM_000258.2(MYL3):c.286C>T:p.Leu96=	coding	Benign/Likely_benign
3	46860702	C	T	C46860702T	MYL3	NM_000258.3(MYL3):c.281G>A:p.Arg94His	coding	Pathogenic/Likely_pathogenic
3	46860722	G	A	G46860722A	MYL3	NM_000258.2(MYL3):c.261C>T:p.Pro87=	coding	Benign/Likely_benign
3	46860952	C	G	C46860952G	MYL3	NM_000258.2(MYL3):c.157+8G>C	noncoding	Benign/Likely_benign
3	46861001	C	A	C46861001A	MYL3	NM_000258.3(MYL3):c.130-14G>T	noncoding	Benign/Likely_benign
3	46863069	G	T	G46863069T	MYL3	NM_000258.2(MYL3):c.129+193C>A	noncoding	Benign
3	46863218	C	A	C46863218A	MYL3	NM_000258.2(MYL3):c.129+44G>T	noncoding	Benign
3	46863322	G	A	G46863322A	MYL3	NM_000258.3(MYL3):c.69C>T:p.Pro23=	coding	Benign
3	46863417	G	A	G46863417A	MYL3	NM_000258.2(MYL3):c.-27C>T	noncoding	Benign
3	46883646	G	A	G46883646A	PTH1R	NM_000316.3(PTH1R):c.75+12G>A	noncoding	Benign
3	46893959	G	A	G46893959A	PTH1R	NM_000316.3(PTH1R):c.128G>A:p.Arg43His	coding	Benign/Likely_benign
3	46895772	G	A	G46895772A	PTH1R	NM_000316.3(PTH1R):c.216G>A:p.Ala72=	coding	Benign
3	46895855	G	A	G46895855A	PTH1R	NM_000316.3(PTH1R):c.299G>A:p.Gly100Asp	coding	Benign/Likely_benign
3	46895866	C	T	C46895866T	PTH1R	NM_000316.3(PTH1R):c.310C>T:p.Arg104Ter	coding	Pathogenic
3	46897898	G	A	G46897898A	PTH1R	NM_000316.3(PTH1R):c.357G>A:p.Pro119=	coding	Benign/Likely_benign
3	46897916	G	A	G46897916A	PTH1R	NM_000316.3(PTH1R):c.375G>A:p.Glu125=	coding	Benign/Likely_benign
3	46897936	C	T	C46897936T	PTH1R	NM_000316.3(PTH1R):c.395C>T:p.Pro132Leu	coding	Pathogenic
3	46898085	C	A	C46898085A	PTH1R	NM_000316.3(PTH1R):c.436C>A:p.Arg146=	coding	Benign/Likely_benign
3	46898097	C	T	C46898097T	PTH1R	NM_000316.3(PTH1R):c.448C>T:p.Arg150Cys	coding	Benign/Likely_benign
3	46898112	G	T	G46898112T	PTH1R	NM_000316.3(PTH1R):c.463G>T:p.Glu155Ter	coding	Pathogenic
3	46898206	T	C	T46898206C	PTH1R	NM_000316.3(PTH1R):c.543+14T>C	noncoding	Benign
3	46898445	T	A	T46898445A	PTH1R	NM_000316.3(PTH1R):c.611T>A:p.Val204Glu	coding	Pathogenic
3	46898691	A	G	A46898691G	PTH1R	NM_000316.3(PTH1R):c.668A>G:p.His223Arg	coding	Pathogenic
3	46898794	C	A	C46898794A	PTH1R	NM_000316.3(PTH1R):c.771C>A:p.Thr257=	coding	Benign/Likely_benign
3	46901411	C	G	C46901411G	PTH1R	NM_000316.3(PTH1R):c.1050-3C>G	noncoding	Pathogenic
3	46901797	G	A	G46901797A	PTH1R	NM_000316.3(PTH1R):c.1148G>A:p.Arg383Gln	coding	Pathogenic
3	46902542	A	C	A46902542C	PTH1R	NM_000316.3(PTH1R):c.1228A>C:p.Thr410Pro	coding	Pathogenic
3	46902543	C	G	C46902543G	PTH1R	NM_000316.3(PTH1R):c.1229C>G:p.Thr410Arg	coding	Pathogenic
3	46902544	G	A	G46902544A	PTH1R	NM_000316.3(PTH1R):c.1230G>A:p.Thr410=	coding	Benign
3	46902619	G	A	G46902619A	PTH1R	NM_000316.3(PTH1R):c.1305G>A:p.Thr435=	coding	Benign/Likely_benign
3	46902768	T	G	T46902768G	PTH1R	NM_000316.3(PTH1R):c.1373T>G:p.Ile458Arg	coding	Pathogenic
3	46902784	T	C	T46902784C	PTH1R	NM_000316.3(PTH1R):c.1389T>C:p.Asn463=	coding	Benign
3	46902805	G	A	G46902805A	PTH1R	NM_000316.3(PTH1R):c.1395+15G>A	noncoding	Benign
3	46903327	C	T	C46903327T	PTH1R	NM_000316.3(PTH1R):c.1453C>T:p.Arg485Ter	coding	Pathogenic
3	46903510	G	A	G46903510A	PTH1R	NM_000316.3(PTH1R):c.1636G>A:p.Glu546Lys	coding	Benign
3	46988740	C	G	C46988740G	NBEAL2	NM_015175.2(NBEAL2):c.123C>G:p.Ser41=	coding	Benign
3	46988888	C	T	C46988888T	NBEAL2	NM_015175.3(NBEAL2):c.187C>T:p.Leu63=	coding	Benign
3	46989292	C	G	C46989292G	NBEAL2	NM_015175.2(NBEAL2):c.384C>G:p.Gly128=	coding	Benign
3	46991623	A	C	A46991623C	NBEAL2	NM_015175.3(NBEAL2):c.860A>C:p.Asp287Ala	coding	Benign
3	46991644	C	G	C46991644G	NBEAL2	NM_015175.2(NBEAL2):c.881C>G:p.Ser294Ter	coding	Pathogenic
3	46992447	C	T	C46992447T	NBEAL2	NM_015175.2(NBEAL2):c.1033-28C>T	noncoding	Benign
3	46992480	C	T	C46992480T	NBEAL2	NM_015175.2(NBEAL2):c.1038C>T:p.Tyr346=	coding	Benign/Likely_benign
3	46993986	T	C	T46993986C	NBEAL2	NM_015175.2(NBEAL2):c.1163T>C:p.Leu388Pro	coding	Pathogenic
3	46994410	C	T	C46994410T	NBEAL2	NM_015175.2(NBEAL2):c.1198-45C>T	noncoding	Benign
3	46995075	G	A	G46995075A	NBEAL2	NM_015175.2(NBEAL2):c.1340G>A:p.Arg447His	coding	Benign
3	46995086	C	G	C46995086G	NBEAL2	NM_015175.3(NBEAL2):c.1351C>G:p.Pro451Ala	coding	Benign
3	46995088	G	A	G46995088A	NBEAL2	NM_015175.2(NBEAL2):c.1353G>A:p.Pro451=	coding	Benign
3	46995115	G	A	G46995115A	NBEAL2	NM_015175.2(NBEAL2):c.1380G>A:p.Pro460=	coding	Benign
3	46995266	C	G	C46995266G	NBEAL2	NM_015175.2(NBEAL2):c.1531C>G:p.Arg511Gly	coding	Benign
3	46995487	G	A	G46995487A	NBEAL2	NM_015175.3(NBEAL2):c.1752G>A:p.Thr584=	coding	Benign
3	46995524	C	T	C46995524T	NBEAL2	NM_015175.2(NBEAL2):c.1789C>T:p.Arg597Ter	coding	Pathogenic
3	46995528	G	A	G46995528A	NBEAL2	NM_015175.2(NBEAL2):c.1793G>A:p.Trp598Ter	coding	Pathogenic
3	46995558	G	A	G46995558A	NBEAL2	NM_001365116.2(NBEAL2):c.1721G>A:p.Trp574Ter	coding	Pathogenic
3	46995613	C	A	C46995613A	NBEAL2	NM_015175.3(NBEAL2):c.1878C>A:p.Leu626=	coding	Benign
3	46995743	A	T	A46995743T	NBEAL2	NM_015175.2(NBEAL2):c.1928A>T:p.Glu643Val	coding	Pathogenic
3	46996315	G	A	G46996315A	NBEAL2	NM_015175.3(NBEAL2):c.2196G>A:p.Thr732=	coding	Benign
3	46996350	C	T	C46996350T	NBEAL2	NM_015175.2(NBEAL2):c.2231C>T:p.Pro744Leu	coding	Benign
3	46996475	G	A	G46996475A	NBEAL2	NM_015175.3(NBEAL2):c.2356G>A:p.Ala786Thr	coding	Benign
3	46996495	G	A	G46996495A	NBEAL2	NM_015175.2(NBEAL2):c.2376G>A:p.Arg792=	coding	Benign/Likely_benign
3	46996564	G	A	G46996564A	NBEAL2	NM_015175.2(NBEAL2):c.2445G>A:p.Ala815=	coding	Benign
3	46997258	G	A	G46997258A	NBEAL2	NM_015175.3(NBEAL2):c.2650-1G>A	noncoding	Pathogenic
3	46997310	C	T	C46997310T	NBEAL2	NM_015175.2(NBEAL2):c.2701C>T:p.Arg901Ter	coding	Pathogenic
3	46998144	C	T	C46998144T	NBEAL2	NM_015175.2(NBEAL2):c.3036C>T:p.Ser1012=	coding	Benign/Likely_benign
3	46998228	T	G	T46998228G	NBEAL2	NM_015175.3(NBEAL2):c.3118+2T>G	noncoding	Pathogenic
3	46999363	C	T	C46999363T	NBEAL2	NM_015175.2(NBEAL2):c.3592C>T:p.Gln1198Ter	coding	Pathogenic
3	47000180	G	T	G47000180T	NBEAL2	NM_015175.2(NBEAL2):c.4081G>T:p.Glu1361Ter	coding	Pathogenic
3	47000269	G	A	G47000269A	NBEAL2	NM_015175.2(NBEAL2):c.4170G>A:p.Ser1390=	coding	Benign
3	47000356	G	A	G47000356A	NBEAL2	NM_015175.2(NBEAL2):c.4257G>A:p.Pro1419=	coding	Benign
3	47000997	A	G	A47000997G	NBEAL2	NM_015175.3(NBEAL2):c.4306-4A>G	noncoding	Benign
3	47001278	G	T	G47001278T	NBEAL2	NM_015175.3(NBEAL2):c.4485-1G>T	noncoding	Pathogenic
3	47001748	C	T	C47001748T	NBEAL2	NM_015175.2(NBEAL2):c.4704C>T:p.Asn1568=	coding	Benign
3	47001896	C	T	C47001896T	NBEAL2	NM_015175.2(NBEAL2):c.4783-24C>T	noncoding	Benign
3	47002048	C	T	C47002048T	NBEAL2	NM_015175.2(NBEAL2):c.4911C>T:p.Ser1637=	coding	Benign
3	47002132	G	A	G47002132A	NBEAL2	NM_015175.2(NBEAL2):c.4995G>A:p.Val1665=	coding	Benign
3	47002240	C	T	C47002240T	NBEAL2	NM_015175.2(NBEAL2):c.5103C>T:p.Phe1701=	coding	Benign/Likely_benign
3	47002632	A	T	A47002632T	NBEAL2	NM_015175.2(NBEAL2):c.5302-13A>T	noncoding	Benign
3	47003250	A	C	A47003250C	NBEAL2	NM_015175.2(NBEAL2):c.5661A>C:p.Pro1887=	coding	Benign
3	47004249	C	G	C47004249G	NBEAL2	NM_015175.2(NBEAL2):c.6054C>G:p.Pro2018=	coding	Benign
3	47004356	C	T	C47004356T	NBEAL2	NM_015175.2(NBEAL2):c.6161C>T:p.Ser2054Phe	coding	Benign
3	47004508	G	A	G47004508A	NBEAL2	NM_015175.3(NBEAL2):c.6212G>A:p.Arg2071His	coding	Benign
3	47004976	C	T	C47004976T	NBEAL2	NM_015175.2(NBEAL2):c.6299C>T:p.Pro2100Leu	coding	Pathogenic
3	47004995	C	T	C47004995T	NBEAL2	NM_015175.2(NBEAL2):c.6318C>T:p.Tyr2106=	coding	Benign
3	47005055	C	T	C47005055T	NBEAL2	NM_015175.3(NBEAL2):c.6378C>T:p.Ile2126=	coding	Benign
3	47005352	G	C	G47005352C	NBEAL2	NM_015175.2(NBEAL2):c.6560+31G>C	noncoding	Benign
3	47005552	C	T	C47005552T	NBEAL2	NM_015175.3(NBEAL2):c.6624C>T:p.Ser2208=	coding	Benign
3	47005868	A	C	A47005868C	NBEAL2	NM_015175.2(NBEAL2):c.6801+21A>C	noncoding	Benign
3	47006072	T	C	T47006072C	NBEAL2	NM_015175.2(NBEAL2):c.6919+9T>C	noncoding	Benign
3	47006164	G	C	G47006164C	NBEAL2	NM_015175.3(NBEAL2):c.6920-1G>C	noncoding	Pathogenic
3	47007577	C	T	C47007577T	NBEAL2	NM_015175.2(NBEAL2):c.7387C>T:p.Gln2463Ter	coding	Pathogenic
3	47007703	A	G	A47007703G	NBEAL2	NM_015175.2(NBEAL2):c.7507+6A>G	noncoding	Benign
3	47007920	G	A	G47007920A	NBEAL2	NM_015175.3(NBEAL2):c.7602+10G>A	noncoding	Benign/Likely_benign
3	47008318	A	C	A47008318C	NBEAL2	NM_015175.3(NBEAL2):c.7755A>C:p.Gly2585=	coding	Benign
3	47008399	G	A	G47008399A	NBEAL2	NM_015175.3(NBEAL2):c.7836G>A:p.Gln2612=	coding	Benign
3	47009499	C	A	C47009499A	NBEAL2	NM_015175.2(NBEAL2):c.*179C>A	noncoding	Benign
3	47009536	A	G	A47009536G	NBEAL2	NM_015175.2(NBEAL2):c.*216A>G	noncoding	Benign
3	47037732	A	G	A47037732G	SETD2	NM_014159.7(SETD2):c.7284T>C:p.Asp2428=	coding	Benign
3	47046517	A	G	A47046517G	SETD2	NM_014159.7(SETD2):c.7068T>C:p.Val2356=	coding	Benign
3	47046525	T	C	T47046525C	SETD2	NM_014159.7(SETD2):c.7060A>G:p.Thr2354Ala	coding	Benign
3	47046615	C	A	C47046615A	SETD2	NM_014159.6(SETD2):c.6970G>T:p.Ala2324Ser	coding	Benign
3	47057098	A	C	A47057098C	SETD2	NM_014159.7(SETD2):c.6686T>G:p.Val2229Gly	coding	Benign
3	47057442	A	T	A47057442T	SETD2	NM_014159.7(SETD2):c.6342T>A:p.Asn2114Lys	coding	Benign
3	47062220	C	T	C47062220T	SETD2	NM_014159.6(SETD2):c.6236G>A:p.Ser2079Asn	coding	Benign
3	47062283	T	C	T47062283C	SETD2	NM_014159.7(SETD2):c.6173A>G:p.Asn2058Ser	coding	Benign
3	47083767	T	C	T47083767C	SETD2	NM_014159.6(SETD2):c.6013A>G:p.Ile2005Val	coding	Benign
3	47083771	C	T	C47083771T	SETD2	NM_014159.7(SETD2):c.6009G>A:p.Val2003=	coding	Benign
3	47083895	G	A	G47083895A	SETD2	NM_014159.7(SETD2):c.5885C>T:p.Pro1962Leu	coding	Benign
3	47083929	T	C	T47083929C	SETD2	NM_014159.6(SETD2):c.5851A>G:p.Thr1951Ala	coding	Benign
3	47083951	G	C	G47083951C	SETD2	NM_014159.6(SETD2):c.5829C>G:p.Asn1943Lys	coding	Benign
3	47083962	T	C	T47083962C	SETD2	NM_014159.7(SETD2):c.5818A>G:p.Ser1940Gly	coding	Benign
3	47083968	C	T	C47083968T	SETD2	NM_014159.7(SETD2):c.5812G>A:p.Val1938Ile	coding	Benign
3	47084019	C	A	C47084019A	SETD2	NM_014159.7(SETD2):c.5761G>T:p.Glu1921Ter	coding	Pathogenic
3	47084336	A	C	A47084336C	SETD2	NM_014159.7(SETD2):c.5444T>G:p.Leu1815Trp	coding	Pathogenic
3	47088119	G	A	G47088119A	SETD2	NM_014159.7(SETD2):c.5271C>T:p.Leu1757=	coding	Benign
3	47097970	A	C	A47097970C	SETD2	NM_014159.6(SETD2):c.5127T>G:p.Ser1709=	coding	Benign
3	47101476	T	C	T47101476C	SETD2	NM_014159.7(SETD2):c.4997A>G:p.Tyr1666Cys	coding	Pathogenic/Likely_pathogenic
3	47101575	C	G	C47101575G	SETD2	NM_014159.7(SETD2):c.4918-20G>C	noncoding	Benign
3	47103391	A	T	A47103391T	SETD2	NM_014159.7(SETD2):c.4872T>A:p.Ser1624=	coding	Benign
3	47106062	G	A	G47106062A	SETD2	NM_014159.7(SETD2):c.4774C>T:p.Arg1592Ter	coding	Pathogenic
3	47120316	T	A	T47120316A	SETD2	NM_014159.7(SETD2):c.4320A>T:p.Pro1440=	coding	Benign
3	47120443	A	G	A47120443G	SETD2	NM_014159.7(SETD2):c.4193T>C:p.Ile1398Thr	coding	Benign
3	47120577	G	A	G47120577A	SETD2	NM_014159.7(SETD2):c.4059C>T:p.Ser1353=	coding	Benign
3	47120625	T	C	T47120625C	SETD2	NM_014159.7(SETD2):c.4011A>G:p.Glu1337=	coding	Benign
3	47120786	G	T	G47120786T	SETD2	NM_014159.7(SETD2):c.3850C>A:p.His1284Asn	coding	Benign
3	47120996	T	C	T47120996C	SETD2	NM_014159.6(SETD2):c.3640A>G:p.Asn1214Asp	coding	Benign
3	47121069	G	A	G47121069A	SETD2	NM_014159.7(SETD2):c.3567C>T:p.Thr1189=	coding	Benign
3	47121171	A	G	A47121171G	SETD2	NM_014159.7(SETD2):c.3465T>C:p.Asn1155=	coding	Benign
3	47121210	T	G	T47121210G	SETD2	NM_014159.6(SETD2):c.3426A>C:p.Glu1142Asp	coding	Benign
3	47121387	T	G	T47121387G	SETD2	NM_014159.7(SETD2):c.3249A>C:p.Thr1083=	coding	Benign
3	47121484	G	A	G47121484A	SETD2	NM_014159.7(SETD2):c.3152C>T:p.Ser1051Leu	coding	Benign
3	47121610	A	G	A47121610G	SETD2	NM_014159.7(SETD2):c.3026T>C:p.Met1009Thr	coding	Benign
3	47121657	A	C	A47121657C	SETD2	NM_014159.6(SETD2):c.2979T>G:p.Ser993=	coding	Benign
3	47121838	C	A	C47121838A	SETD2	NM_014159.7(SETD2):c.2798G>T:p.Gly933Val	coding	Benign
3	47121842	C	T	C47121842T	SETD2	NM_014159.7(SETD2):c.2794G>A:p.Val932Ile	coding	Benign
3	47121853	G	C	G47121853C	SETD2	NM_014159.7(SETD2):c.2783C>G:p.Thr928Arg	coding	Benign
3	47121860	T	C	T47121860C	SETD2	NM_014159.7(SETD2):c.2776A>G:p.Lys926Glu	coding	Benign
3	47121932	C	G	C47121932G	SETD2	NM_014159.7(SETD2):c.2704G>C:p.Glu902Gln	coding	Benign
3	47122033	T	C	T47122033C	SETD2	NM_014159.7(SETD2):c.2603A>G:p.Asp868Gly	coding	Benign
3	47122093	G	A	G47122093A	SETD2	NM_014159.7(SETD2):c.2543C>T:p.Ala848Val	coding	Benign/Likely_benign
3	47122184	T	G	T47122184G	SETD2	NM_014159.7(SETD2):c.2452A>C:p.Lys818Gln	coding	Benign
3	47122186	A	G	A47122186G	SETD2	NM_014159.7(SETD2):c.2450T>C:p.Met817Thr	coding	Benign
3	47122234	T	C	T47122234C	SETD2	NM_014159.7(SETD2):c.2402A>G:p.Asn801Ser	coding	Benign
3	47122322	T	C	T47122322C	SETD2	NM_014159.6(SETD2):c.2314A>G:p.Lys772Glu	coding	Benign
3	47122334	C	G	C47122334G	SETD2	NM_014159.7(SETD2):c.2302G>C:p.Val768Leu	coding	Benign/Likely_benign
3	47122342	A	C	A47122342C	SETD2	NM_014159.7(SETD2):c.2294T>G:p.Val765Gly	coding	Benign
3	47122521	C	T	C47122521T	SETD2	NM_014159.6(SETD2):c.2115G>A:p.Ser705=	coding	Benign
3	47122523	A	C	A47122523C	SETD2	NM_014159.7(SETD2):c.2113T>G:p.Ser705Ala	coding	Benign
3	47122607	G	A	G47122607A	SETD2	NM_014159.7(SETD2):c.2029C>T:p.Pro677Ser	coding	Benign
3	47122787	G	T	G47122787T	SETD2	NM_014159.7(SETD2):c.1849C>A:p.Pro617Thr	coding	Benign
3	47122846	C	T	C47122846T	SETD2	NM_014159.7(SETD2):c.1790G>A:p.Gly597Asp	coding	Benign
3	47122949	T	C	T47122949C	SETD2	NM_014159.7(SETD2):c.1687A>G:p.Ile563Val	coding	Benign
3	47123431	C	T	C47123431T	SETD2	NM_014159.6(SETD2):c.1205G>A:p.Arg402Gln	coding	Benign
3	47123615	A	T	A47123615T	SETD2	NM_014159.6(SETD2):c.1021T>A:p.Phe341Ile	coding	Benign
3	47123651	G	T	G47123651T	SETD2	NM_014159.7(SETD2):c.985C>A:p.Arg329=	coding	Benign
3	47123816	G	A	G47123816A	SETD2	NM_014159.7(SETD2):c.820C>T:p.Gln274Ter	coding	Pathogenic
3	47123837	C	T	C47123837T	SETD2	NM_014159.7(SETD2):c.799G>A:p.Val267Ile	coding	Benign
3	47123972	G	T	G47123972T	SETD2	NM_014159.7(SETD2):c.664C>A:p.Leu222Ile	coding	Benign
3	47124058	G	A	G47124058A	SETD2	NM_014159.7(SETD2):c.578C>T:p.Pro193Leu	coding	Benign
3	47124079	G	A	G47124079A	SETD2	NM_014159.7(SETD2):c.557C>T:p.Pro186Leu	coding	Benign
3	47124136	G	A	G47124136A	SETD2	NM_014159.7(SETD2):c.500C>T:p.Pro167Leu	coding	Benign
3	47124161	T	C	T47124161C	SETD2	NM_014159.7(SETD2):c.475A>G:p.Thr159Ala	coding	Benign
3	47124301	G	A	G47124301A	SETD2	NM_014159.7(SETD2):c.335C>T:p.Ser112Leu	coding	Benign
3	47406724	G	A	G47406724A	PTPN23	NM_015466.4(PTPN23):c.781G>A:p.Glu261Lys	coding	Benign
3	47407348	A	G	A47407348G	PTPN23	NM_015466.4(PTPN23):c.904A>G:p.Met302Val	coding	Pathogenic
3	47409040	C	T	C47409040T	PTPN23	NM_015466.4(PTPN23):c.1595C>T:p.Pro532Leu	coding	Pathogenic
3	47409073	C	T	C47409073T	PTPN23	NM_015466.4(PTPN23):c.1628C>T:p.Pro543Leu	coding	Benign
3	47409521	C	G	C47409521G	PTPN23	NM_015466.4(PTPN23):c.1902C>G:p.Asn634Lys	coding	Pathogenic
3	47411384	C	T	C47411384T	PTPN23	NM_015466.4(PTPN23):c.3586C>T:p.Arg1196Ter	coding	Pathogenic
3	47411889	G	T	G47411889T	PTPN23	NM_015466.4(PTPN23):c.3995G>T:p.Arg1332Leu	coding	Pathogenic/Likely_pathogenic
3	47412169	G	T	G47412169T	PTPN23	NM_015466.4(PTPN23):c.4149G>T:p.Pro1383=	coding	Benign
3	47412929	T	C	T47412929C	PTPN23	NM_015466.4(PTPN23):c.4655T>C:p.Leu1552Pro	coding	Benign
3	47413929	G	A	G47413929A	SCAP	NM_012235.4(SCAP):c.3765C>T:p.Asn1255=	coding	Benign
3	47414034	G	C	G47414034C	SCAP	NM_012235.4(SCAP):c.3660C>G:p.Gly1220=	coding	Benign
3	47414198	C	T	C47414198T	SCAP	NM_012235.4(SCAP):c.3576G>A:p.Lys1192=	coding	Benign
3	47414240	C	T	C47414240T	SCAP	NM_012235.4(SCAP):c.3534G>A:p.Leu1178=	coding	Benign
3	47414632	C	A	C47414632A	SCAP	NM_012235.4(SCAP):c.3327G>T:p.Ser1109=	coding	Benign
3	47418852	G	A	G47418852A	SCAP	NM_012235.4(SCAP):c.1941-9C>T	noncoding	Benign
3	47498277	C	T	C47498277T	ELP6	NM_001031703.3(ELP6):c.672+9G>A	noncoding	Benign
3	47577648	C	A	C47577648A	CSPG5	NM_006574.4(CSPG5):c.378G>T:p.Thr126=	coding	Benign
3	47676680	T	C	T47676680C	SMARCC1	NM_003074.4(SMARCC1):c.1674A>G:p.Val558=	coding	Benign
3	47846462	A	G	A47846462G	DHX30	NM_138615.3(DHX30):c.1390A>G:p.Thr464Ala	coding	Pathogenic
3	47846550	G	A	G47846550A	DHX30	NM_138615.3(DHX30):c.1478G>A:p.Arg493His	coding	Pathogenic
3	47846757	A	G	A47846757G	DHX30	NM_138615.3(DHX30):c.1685A>G:p.His562Arg	coding	Pathogenic
3	47848235	G	A	G47848235A	DHX30	NM_138615.3(DHX30):c.2342G>A:p.Gly781Asp	coding	Pathogenic
3	47848237	C	T	C47848237T	DHX30	NM_138615.3(DHX30):c.2344C>T:p.Arg782Trp	coding	Pathogenic
3	47848246	C	T	C47848246T	DHX30	NM_138615.3(DHX30):c.2353C>T:p.Arg785Cys	coding	Pathogenic
3	47849188	C	T	C47849188T	DHX30	NM_138615.3(DHX30):c.2930-4C>T	noncoding	Benign
3	47849510	G	A	G47849510A	DHX30	NM_138615.3(DHX30):c.3147G>A:p.Arg1049=	coding	Benign
3	47872008	C	T	C47872008T	MAP4	NM_002375.5(MAP4):c.2415G>A:p.Gln805=	coding	Benign
3	47977856	A	C	A47977856C	MAP4	NM_002375.5(MAP4):c.292+9T>G	noncoding	Benign
3	47998750	A	G	A47998750G	MAP4	NM_002375.5(MAP4):c.111T>C:p.Val37=	coding	Benign
3	48187876	C	A	C48187876A	CDC25A	NM_001789.3(CDC25A):c.72G>T:p.Gln24His	coding	Benign
3	48224434	A	G	A48224434G	CAMP	NM_004345.5(CAMP):c.282A>G:p.Pro94=	coding	Benign
3	48225345	A	G	A48225345G	CAMP	NM_004345.5(CAMP):c.434A>G:p.Lys145Arg	coding	Benign
3	48247686	G	A	G48247686A	ZNF589	NM_016089.3(ZNF589):c.96+9G>A	noncoding	Benign
3	48268752	A	C	A48268752C	ZNF589	NM_016089.3(ZNF589):c.1061A>C:p.His354Pro	coding	Benign
3	48409714	G	A	G48409714A	PLXNB1	NM_001130082.3(PLXNB1):c.5796C>T:p.Phe1932=	coding	Benign
3	48410881	G	A	G48410881A	PLXNB1	NM_001130082.3(PLXNB1):c.5403C>T:p.Arg1801=	coding	Benign
3	48412609	C	T	C48412609T	PLXNB1	NM_001130082.3(PLXNB1):c.4866G>A:p.Thr1622=	coding	Benign
3	48418036	G	A	G48418036A	PLXNB1	NM_001130082.3(PLXNB1):c.3249C>T:p.Asp1083=	coding	Benign
3	48419748	G	A	G48419748A	PLXNB1	NM_001130082.3(PLXNB1):c.2538C>T:p.Gly846=	coding	Benign
3	48419774	C	A	C48419774A	PLXNB1	NM_001130082.3(PLXNB1):c.2512G>T:p.Ala838Ser	coding	Benign
3	48419904	G	C	G48419904C	PLXNB1	NM_001130082.3(PLXNB1):c.2382C>G:p.Pro794=	coding	Benign
3	48420028	G	A	G48420028A	PLXNB1	NM_001130082.3(PLXNB1):c.2258C>T:p.Ser753Leu	coding	Benign
3	48420121	G	A	G48420121A	PLXNB1	NM_001130082.3(PLXNB1):c.2165C>T:p.Ser722Leu	coding	Benign
3	48420874	C	T	C48420874T	PLXNB1	NM_001130082.3(PLXNB1):c.1893G>A:p.Ala631=	coding	Benign
3	48420922	G	A	G48420922A	PLXNB1	NM_001130082.3(PLXNB1):c.1845C>T:p.Gly615=	coding	Benign
3	48423559	G	A	G48423559A	PLXNB1	NM_001130082.3(PLXNB1):c.1053C>T:p.Thr351=	coding	Benign
3	48424231	G	A	G48424231A	PLXNB1	NM_001130082.3(PLXNB1):c.381C>T:p.Leu127=	coding	Benign
3	48424513	C	A	C48424513A	PLXNB1	NM_001130082.3(PLXNB1):c.99G>T:p.Thr33=	coding	Benign
3	48432676	T	C	T48432676C	CCDC51	NM_001256964.2(CCDC51):c.968A>G:p.Gln323Arg	coding	Benign
3	48433151	G	A	G48433151A	CCDC51	NM_001256964.2(CCDC51):c.493C>T:p.Arg165Cys	coding	Benign
3	48434997	G	A	G48434997A	CCDC51	NM_001256964.2(CCDC51):c.132C>T:p.Pro44=	coding	Benign
3	48446956	C	T	C48446956T	ATRIP	NM_130384.3(ATRIP):c.111C>T:p.Phe37=	coding	Benign
3	48450125	C	T	C48450125T	ATRIP	NM_130384.3(ATRIP):c.336C>T:p.Phe112=	coding	Benign
3	48450162	A	C	A48450162C	ATRIP	NM_130384.3(ATRIP):c.373A>C:p.Lys125Gln	coding	Benign
3	48460521	C	T	C48460521T	ATRIP	NM_130384.3(ATRIP):c.1467C>T:p.Ser489=	coding	Benign
3	48463833	C	T	C48463833T	ATRIP	NM_130384.3(ATRIP):c.1834C>T:p.Leu612=	coding	Benign
3	48464880	G	A	G48464880A	ATRIP	NM_130384.3(ATRIP):c.2105G>A:p.Arg702Gln	coding	Benign
3	48465010	G	A	G48465010A	ATRIP	NM_130384.3(ATRIP):c.2235G>A:p.Leu745=	coding	Benign
3	48465049	C	T	C48465049T	ATRIP	NM_130384.3(ATRIP):c.2274C>T:p.Leu758=	coding	Benign
3	48465515	G	A	G48465515A	ATRIP	NM_130384.3(ATRIP):c.2337G>A:p.Ala779=	coding	Benign
3	48466268	T	C	T48466268C	TREX1	NM_033629.6(TREX1):c.-68T>C	noncoding	Benign
3	48466707	G	A	G48466707A	TREX1	NM_033629.6(TREX1):c.52G>A:p.Asp18Asn	coding	Pathogenic
3	48466853	G	A	G48466853A	TREX1	NM_033629.6(TREX1):c.198G>A:p.Lys66=	coding	Benign
3	48466945	G	A	G48466945A	TREX1	NM_033629.6(TREX1):c.290G>A:p.Arg97His	coding	Pathogenic/Likely_pathogenic
3	48467020	T	C	T48467020C	TREX1	NM_033629.6(TREX1):c.365T>C:p.Val122Ala	coding	Pathogenic
3	48467117	T	C	T48467117C	TREX1	NM_033629.6(TREX1):c.462T>C:p.Asp154=	coding	Benign
3	48467163	G	T	G48467163T	TREX1	NM_033629.6(TREX1):c.508G>T:p.Glu170Ter	coding	Pathogenic
3	48467186	T	C	T48467186C	TREX1	NM_033629.6(TREX1):c.531T>C:p.Tyr177=	coding	Benign
3	48467253	G	A	G48467253A	TREX1	NM_033629.6(TREX1):c.598G>A:p.Asp200Asn	coding	Pathogenic
3	48467257	T	A	T48467257A	TREX1	NM_033629.6(TREX1):c.602T>A:p.Val201Asp	coding	Pathogenic
3	48467284	G	A	G48467284A	TREX1	NM_033629.6(TREX1):c.629G>A:p.Trp210Ter	coding	Pathogenic
3	48467498	C	T	C48467498T	TREX1	NM_033629.6(TREX1):c.843C>T:p.Ala281=	coding	Benign
3	48467567	G	A	G48467567A	TREX1	NM_033629.6(TREX1):c.912G>A:p.Leu304=	coding	Benign
3	48467637	T	C	T48467637C	TREX1	NM_033629.6(TREX1):c.*37T>C	noncoding	Benign
3	48564190	C	G	C48564190G	COL7A1	NM_000094.4(COL7A1):c.*216G>C	noncoding	Benign
3	48564341	A	G	A48564341G	COL7A1	NM_000094.3(COL7A1):c.*65T>C	noncoding	Benign
3	48564922	G	C	G48564922C	COL7A1	NM_000094.4(COL7A1):c.8679C>G:p.Tyr2893Ter	coding	Pathogenic
3	48565458	G	A	G48565458A	COL7A1	NM_000094.3(COL7A1):c.8479C>T:p.Gln2827Ter	coding	Pathogenic
3	48565465	G	A	G48565465A	COL7A1	NM_000094.3(COL7A1):c.8472C>T:p.Ala2824=	coding	Benign
3	48565636	G	A	G48565636A	COL7A1	NM_000094.3(COL7A1):c.8440C>T:p.Arg2814Ter	coding	Pathogenic
3	48566281	A	T	A48566281T	COL7A1	NM_000094.3(COL7A1):c.8393T>A:p.Met2798Lys	coding	Pathogenic
3	48566539	G	A	G48566539A	COL7A1	NM_000094.3(COL7A1):c.8329C>T:p.Arg2777Ter	coding	Pathogenic
3	48566583	C	G	C48566583G	COL7A1	NM_000094.3(COL7A1):c.8305-20G>C	noncoding	Benign
3	48566686	C	T	C48566686T	COL7A1	NM_000094.3(COL7A1):c.8278G>A:p.Gly2760Arg	coding	Pathogenic
3	48566719	C	T	C48566719T	COL7A1	NM_000094.3(COL7A1):c.8245G>A:p.Gly2749Arg	coding	Pathogenic
3	48566731	G	A	G48566731A	COL7A1	NM_000094.4(COL7A1):c.8233C>T:p.Arg2745Ter	coding	Pathogenic
3	48566977	C	T	C48566977T	COL7A1	NM_000094.4(COL7A1):c.8156G>A:p.Gly2719Asp	coding	Pathogenic
3	48567135	C	A	C48567135A	COL7A1	NM_000094.3(COL7A1):c.8102G>T:p.Gly2701Val	coding	Pathogenic
3	48567143	G	A	G48567143A	COL7A1	NM_000094.3(COL7A1):c.8094C>T:p.Gly2698=	coding	Benign
3	48567184	G	A	G48567184A	COL7A1	NM_000094.4(COL7A1):c.8053C>T:p.Arg2685Ter	coding	Pathogenic
3	48567194	G	A	G48567194A	COL7A1	NM_000094.3(COL7A1):c.8047-4C>T	noncoding	Benign
3	48567608	C	T	C48567608T	COL7A1	NM_000094.3(COL7A1):c.8012G>A:p.Gly2671Glu	coding	Pathogenic
3	48568098	C	A	C48568098A	COL7A1	NM_000094.3(COL7A1):c.7867G>T:p.Gly2623Cys	coding	Pathogenic
3	48568100	C	T	C48568100T	COL7A1	NM_000094.3(COL7A1):c.7865G>A:p.Arg2622Gln	coding	Pathogenic
3	48568137	G	A	G48568137A	COL7A1	NM_000094.3(COL7A1):c.7828C>T:p.Arg2610Ter	coding	Pathogenic
3	48568819	C	T	C48568819T	COL7A1	NM_000094.3(COL7A1):c.7723G>A:p.Gly2575Arg	coding	Pathogenic
3	48568854	C	T	C48568854T	COL7A1	NM_000094.3(COL7A1):c.7688G>A:p.Gly2563Asp	coding	Pathogenic
3	48568861	G	A	G48568861A	COL7A1	NM_000094.3(COL7A1):c.7687-6C>T	noncoding	Benign
3	48570129	C	T	C48570129T	COL7A1	NM_000094.3(COL7A1):c.7485+5G>A	noncoding	Pathogenic
3	48570157	G	A	G48570157A	COL7A1	NM_000094.3(COL7A1):c.7462C>T:p.Gln2488Ter	coding	Pathogenic
3	48570177	C	T	C48570177T	COL7A1	NM_000094.3(COL7A1):c.7442G>A:p.Gly2481Asp	coding	Pathogenic
3	48570304	G	A	G48570304A	COL7A1	NM_000094.3(COL7A1):c.7411C>T:p.Arg2471Ter	coding	Pathogenic
3	48570639	C	T	C48570639T	COL7A1	NM_000094.3(COL7A1):c.7344G>A:p.Val2448=	coding	Pathogenic
3	48570670	G	C	G48570670C	COL7A1	NM_000094.3(COL7A1):c.7313C>G:p.Pro2438Arg	coding	Benign
3	48570697	G	A	G48570697A	COL7A1	NM_000094.3(COL7A1):c.7286C>T:p.Pro2429Leu	coding	Benign
3	48570899	G	A	G48570899A	COL7A1	NM_000094.3(COL7A1):c.7234C>T:p.Arg2412Ter	coding	Pathogenic
3	48570914	C	T	C48570914T	COL7A1	NM_000094.3(COL7A1):c.7219G>A:p.Gly2407Ser	coding	Pathogenic
3	48570942	G	T	G48570942T	COL7A1	NM_000094.3(COL7A1):c.7191C>A:p.Pro2397=	coding	Benign/Likely_benign
3	48571269	C	T	C48571269T	COL7A1	NM_000094.3(COL7A1):c.7078G>A:p.Gly2360Arg	coding	Pathogenic
3	48572126	C	T	C48572126T	COL7A1	NM_000094.4(COL7A1):c.7023+1G>A	noncoding	Pathogenic
3	48572138	G	A	G48572138A	COL7A1	NM_000094.3(COL7A1):c.7012C>T:p.Arg2338Ter	coding	Pathogenic
3	48572142	C	T	C48572142T	COL7A1	NM_000094.3(COL7A1):c.7008G>A:p.Gly2336=	coding	Benign/Likely_benign
3	48572156	G	A	G48572156A	COL7A1	NM_000094.4(COL7A1):c.6994C>T:p.Arg2332Ter	coding	Pathogenic
3	48572412	C	T	C48572412T	COL7A1	NM_000094.3(COL7A1):c.6946G>A:p.Gly2316Arg	coding	Pathogenic
3	48572430	G	C	G48572430C	COL7A1	NM_000094.3(COL7A1):c.6937-9C>G	noncoding	Benign
3	48572667	T	C	T48572667C	COL7A1	NM_000094.3(COL7A1):c.6900+4A>G	noncoding	Pathogenic
3	48572670	C	T	C48572670T	COL7A1	NM_000094.3(COL7A1):c.6900+1G>A	noncoding	Pathogenic
3	48572712	C	T	C48572712T	COL7A1	NM_000094.3(COL7A1):c.6859G>A:p.Gly2287Arg	coding	Pathogenic
3	48572729	C	G	C48572729G	COL7A1	NM_000094.3(COL7A1):c.6842G>C:p.Gly2281Ala	coding	Pathogenic
3	48572912	G	A	G48572912A	COL7A1	NM_000094.3(COL7A1):c.6781C>T:p.Arg2261Ter	coding	Pathogenic
3	48572923	C	G	C48572923G	COL7A1	NM_000094.3(COL7A1):c.6770G>C:p.Gly2257Ala	coding	Pathogenic
3	48572924	C	T	C48572924T	COL7A1	NM_000094.3(COL7A1):c.6769G>A:p.Gly2257Arg	coding	Pathogenic
3	48572941	C	T	C48572941T	COL7A1	NM_000094.3(COL7A1):c.6752G>A:p.Gly2251Glu	coding	Pathogenic
3	48572942	C	T	C48572942T	COL7A1	NM_000094.3(COL7A1):c.6751G>A:p.Gly2251Arg	coding	Pathogenic
3	48573026	G	A	G48573026A	COL7A1	NM_000094.4(COL7A1):c.6745C>T:p.Gln2249Ter	coding	Pathogenic
3	48573047	C	G	C48573047G	COL7A1	NM_000094.3(COL7A1):c.6724G>C:p.Gly2242Arg	coding	Pathogenic
3	48573047	C	T	C48573047T	COL7A1	NM_000094.3(COL7A1):c.6724G>A:p.Gly2242Arg	coding	Pathogenic
3	48573192	G	T	G48573192T	COL7A1	NM_000094.3(COL7A1):c.6696C>A:p.Pro2232=	coding	Benign/Likely_benign
3	48573234	G	C	G48573234C	COL7A1	NM_000094.3(COL7A1):c.6654C>G:p.Gly2218=	coding	Benign
3	48574262	C	A	C48574262A	COL7A1	NM_000094.4(COL7A1):c.6501G>T:p.Pro2167=	coding	Pathogenic
3	48574263	G	A	G48574263A	COL7A1	NM_000094.3(COL7A1):c.6500C>T:p.Pro2167Leu	coding	Benign
3	48574550	C	G	C48574550G	COL7A1	NM_000094.3(COL7A1):c.6394G>C:p.Gly2132Arg	coding	Pathogenic
3	48574713	C	T	C48574713T	COL7A1	NM_000094.3(COL7A1):c.6357G>A:p.Pro2119=	coding	Benign/Likely_benign
3	48575081	C	T	C48575081T	COL7A1	NM_000094.3(COL7A1):c.6262G>A:p.Gly2088Arg	coding	Pathogenic/Likely_pathogenic
3	48575116	C	T	C48575116T	COL7A1	NM_000094.3(COL7A1):c.6227G>A:p.Gly2076Asp	coding	Pathogenic
3	48575125	C	A	C48575125A	COL7A1	NM_000094.3(COL7A1):c.6218G>T:p.Gly2073Val	coding	Pathogenic
3	48575132	G	A	G48575132A	COL7A1	NM_000094.3(COL7A1):c.6217-6C>T	noncoding	Benign
3	48575218	G	A	G48575218A	COL7A1	NM_000094.3(COL7A1):c.6205C>T:p.Arg2069Cys	coding	Pathogenic
3	48575233	C	T	C48575233T	COL7A1	NM_000094.3(COL7A1):c.6190G>A:p.Gly2064Arg	coding	Pathogenic
3	48575236	G	A	G48575236A	COL7A1	NM_000094.3(COL7A1):c.6187C>T:p.Arg2063Trp	coding	Pathogenic
3	48575343	T	C	T48575343C	COL7A1	NM_000094.3(COL7A1):c.6176A>G:p.Glu2059Gly	coding	Pathogenic
3	48575355	C	T	C48575355T	COL7A1	NM_000094.3(COL7A1):c.6164G>A:p.Gly2055Glu	coding	Pathogenic
3	48575392	C	A	C48575392A	COL7A1	NM_000094.3(COL7A1):c.6127G>T:p.Gly2043Trp	coding	Pathogenic
3	48575392	C	T	C48575392T	COL7A1	NM_000094.3(COL7A1):c.6127G>A:p.Gly2043Arg	coding	Pathogenic
3	48575401	C	T	C48575401T	COL7A1	NM_000094.3(COL7A1):c.6118G>A:p.Gly2040Ser	coding	Pathogenic
3	48575409	C	T	C48575409T	COL7A1	NM_000094.3(COL7A1):c.6110G>A:p.Gly2037Glu	coding	Pathogenic
3	48575410	C	T	C48575410T	COL7A1	NM_000094.3(COL7A1):c.6109G>A:p.Gly2037Arg	coding	Pathogenic
3	48575418	C	G	C48575418G	COL7A1	NM_000094.3(COL7A1):c.6101G>C:p.Gly2034Ala	coding	Pathogenic
3	48575419	C	T	C48575419T	COL7A1	NM_000094.3(COL7A1):c.6100G>A:p.Gly2034Arg	coding	Pathogenic
3	48575429	G	A	G48575429A	COL7A1	NM_000094.3(COL7A1):c.6090C>T:p.Ser2030=	coding	Benign
3	48575437	C	T	C48575437T	COL7A1	NM_000094.3(COL7A1):c.6082G>A:p.Gly2028Arg	coding	Pathogenic
3	48575475	C	T	C48575475T	COL7A1	NM_000094.3(COL7A1):c.6044G>A:p.Gly2015Glu	coding	Pathogenic
3	48575497	G	A	G48575497A	COL7A1	NM_000094.3(COL7A1):c.6022C>T:p.Arg2008Cys	coding	Pathogenic
3	48575497	G	C	G48575497C	COL7A1	NM_000094.4(COL7A1):c.6022C>G:p.Arg2008Gly	coding	Pathogenic
3	48575502	C	T	C48575502T	COL7A1	NM_000094.3(COL7A1):c.6017G>A:p.Gly2006Asp	coding	Pathogenic
3	48575512	C	T	C48575512T	COL7A1	NM_000094.3(COL7A1):c.6007G>A:p.Gly2003Arg	coding	Pathogenic
3	48575531	G	A	G48575531A	COL7A1	NM_000094.3(COL7A1):c.5988C>T:p.Ile1996=	coding	Benign/Likely_benign
3	48575673	G	A	G48575673A	COL7A1	NM_000094.3(COL7A1):c.5932C>T:p.Arg1978Ter	coding	Pathogenic
3	48575695	G	A	G48575695A	COL7A1	NM_000094.3(COL7A1):c.5910C>T:p.Phe1970=	coding	Benign/Likely_benign
3	48575736	G	A	G48575736A	COL7A1	NM_000094.3(COL7A1):c.5869C>T:p.Arg1957Trp	coding	Pathogenic
3	48576272	G	A	G48576272A	COL7A1	NM_000094.3(COL7A1):c.5797C>T:p.Arg1933Ter	coding	Pathogenic
3	48576291	G	A	G48576291A	COL7A1	NM_000094.3(COL7A1):c.5778C>T:p.Leu1926=	coding	Benign
3	48576558	C	A	C48576558A	COL7A1	NM_000094.3(COL7A1):c.5701-1G>T	coding	Pathogenic
3	48576720	G	A	G48576720A	COL7A1	NM_000094.4(COL7A1):c.5656C>T:p.Gln1886Ter	coding	Pathogenic
3	48576771	C	G	C48576771G	COL7A1	NM_000094.3(COL7A1):c.5605G>C:p.Gly1869Arg	coding	Pathogenic/Likely_pathogenic
3	48576898	C	T	C48576898T	COL7A1	NM_000094.3(COL7A1):c.5590G>A:p.Ala1864Thr	coding	Benign
3	48576903	G	C	G48576903C	COL7A1	NM_000094.3(COL7A1):c.5585C>G:p.Ser1862Ter	coding	Pathogenic
3	48578320	C	T	C48578320T	COL7A1	NM_000094.3(COL7A1):c.5532+1G>A	noncoding	Pathogenic
3	48578354	G	A	G48578354A	COL7A1	NM_000094.3(COL7A1):c.5499C>T:p.Gly1833=	coding	Pathogenic
3	48578497	C	T	C48578497T	COL7A1	NM_000094.3(COL7A1):c.5443G>A:p.Gly1815Arg	coding	Pathogenic
3	48578516	C	G	C48578516G	COL7A1	NM_000094.3(COL7A1):c.5425-1G>C	coding	Pathogenic
3	48579192	C	T	C48579192T	COL7A1	NM_000094.3(COL7A1):c.5388+5G>A	noncoding	Pathogenic
3	48579241	C	A	C48579241A	COL7A1	NM_000094.3(COL7A1):c.5344G>T:p.Gly1782Ter	coding	Pathogenic
3	48579241	C	T	C48579241T	COL7A1	NM_000094.3(COL7A1):c.5344G>A:p.Gly1782Arg	coding	Pathogenic
3	48579362	C	G	C48579362G	COL7A1	NM_000094.3(COL7A1):c.5307+7G>C	noncoding	Benign
3	48579376	C	T	C48579376T	COL7A1	NM_000094.3(COL7A1):c.5300G>A:p.Gly1767Glu	coding	Pathogenic
3	48579385	C	G	C48579385G	COL7A1	NM_000094.3(COL7A1):c.5291G>C:p.Gly1764Ala	coding	Pathogenic
3	48579403	C	A	C48579403A	COL7A1	NM_000094.3(COL7A1):c.5273G>T:p.Gly1758Val	coding	Pathogenic
3	48579492	G	A	G48579492A	COL7A1	NM_000094.3(COL7A1):c.5259C>T:p.Pro1753=	coding	Benign/Likely_benign
3	48579635	G	A	G48579635A	COL7A1	NM_000094.4(COL7A1):c.5188C>T:p.Arg1730Ter	coding	Pathogenic
3	48579650	C	T	C48579650T	COL7A1	NM_000094.3(COL7A1):c.5173G>A:p.Gly1725Arg	coding	Pathogenic
3	48579820	G	A	G48579820A	COL7A1	NM_000094.3(COL7A1):c.5125-6C>T	noncoding	Benign
3	48580301	G	A	G48580301A	COL7A1	NM_000094.3(COL7A1):c.5096C>T:p.Pro1699Leu	coding	Pathogenic
3	48580586	G	A	G48580586A	COL7A1	NM_000094.3(COL7A1):c.5047C>T:p.Arg1683Ter	coding	Pathogenic
3	48580598	C	T	C48580598T	COL7A1	NM_000094.3(COL7A1):c.5035G>A:p.Gly1679Arg	coding	Pathogenic
3	48580606	C	T	C48580606T	COL7A1	NM_000094.3(COL7A1):c.5027G>A:p.Gly1676Glu	coding	Pathogenic
3	48581129	C	T	C48581129T	COL7A1	NM_000094.3(COL7A1):c.4928G>A:p.Gly1643Asp	coding	Pathogenic
3	48581265	G	A	G48581265A	COL7A1	NM_000094.3(COL7A1):c.4894C>T:p.Arg1632Ter	coding	Pathogenic
3	48581271	G	A	G48581271A	COL7A1	NM_000094.3(COL7A1):c.4888C>T:p.Arg1630Ter	coding	Pathogenic
3	48581483	C	G	C48581483G	COL7A1	NM_000094.3(COL7A1):c.4783G>C:p.Gly1595Arg	coding	Pathogenic
3	48581695	G	A	G48581695A	COL7A1	NM_000094.3(COL7A1):c.4722+11C>T	noncoding	Benign
3	48581758	C	T	C48581758T	COL7A1	NM_000094.3(COL7A1):c.4670G>A:p.Gly1557Glu	coding	Pathogenic
3	48582345	C	T	C48582345T	COL7A1	NM_000094.3(COL7A1):c.4613G>A:p.Arg1538His	coding	Benign
3	48582346	G	A	G48582346A	COL7A1	NM_000094.4(COL7A1):c.4612C>T:p.Arg1538Cys	coding	Benign/Likely_benign
3	48582512	C	T	C48582512T	COL7A1	NM_000094.3(COL7A1):c.4565G>A:p.Gly1522Glu	coding	Pathogenic
3	48582616	C	T	C48582616T	COL7A1	NM_000094.3(COL7A1):c.4556G>A:p.Gly1519Asp	coding	Pathogenic
3	48583014	C	T	C48583014T	COL7A1	NM_000094.3(COL7A1):c.4517G>A:p.Arg1506Gln	coding	Benign
3	48583059	A	G	A48583059G	COL7A1	NM_000094.3(COL7A1):c.4483-11T>C	noncoding	Benign
3	48583161	C	T	C48583161T	COL7A1	NM_000094.3(COL7A1):c.4448G>A:p.Gly1483Asp	coding	Pathogenic
3	48584376	C	G	C48584376G	COL7A1	NM_000094.3(COL7A1):c.4120-1G>C	coding	Pathogenic
3	48584484	C	A	C48584484A	COL7A1	NM_000094.3(COL7A1):c.4119+1G>T	noncoding	Pathogenic
3	48584536	G	A	G48584536A	COL7A1	NM_000094.3(COL7A1):c.4068C>T:p.Ile1356=	coding	Benign
3	48584557	C	A	C48584557A	COL7A1	NM_000094.4(COL7A1):c.4048-1G>T	coding	Pathogenic
3	48584742	C	G	C48584742G	COL7A1	NM_000094.3(COL7A1):c.4039G>C:p.Gly1347Arg	coding	Pathogenic
3	48584754	G	A	G48584754A	COL7A1	NM_000094.3(COL7A1):c.4027C>T:p.Arg1343Ter	coding	Pathogenic
3	48584763	G	A	G48584763A	COL7A1	NM_000094.4(COL7A1):c.4018C>T:p.Arg1340Ter	coding	Pathogenic
3	48584909	C	T	C48584909T	COL7A1	NM_000094.3(COL7A1):c.4011+1G>A	noncoding	Pathogenic
3	48585025	G	A	G48585025A	COL7A1	NM_000094.3(COL7A1):c.3975+11C>T	noncoding	Benign
3	48585562	C	T	C48585562T	COL7A1	NM_000094.3(COL7A1):c.3889G>A:p.Glu1297Lys	coding	Benign/Likely_benign
3	48585691	G	A	G48585691A	COL7A1	NM_000094.3(COL7A1):c.3830C>T:p.Pro1277Leu	coding	Benign
3	48585815	C	T	C48585815T	COL7A1	NM_000094.4(COL7A1):c.3786+15G>A	noncoding	Benign
3	48586095	A	T	A48586095T	COL7A1	NM_000094.4(COL7A1):c.3702T>A:p.Cys1234Ter	coding	Pathogenic
3	48586166	G	A	G48586166A	COL7A1	NM_000094.3(COL7A1):c.3631C>T:p.Gln1211Ter	coding	Pathogenic
3	48586607	C	T	C48586607T	COL7A1	NM_000094.3(COL7A1):c.3359G>A:p.Arg1120Lys	coding	Benign/Likely_benign
3	48587109	C	T	C48587109T	COL7A1	NM_000094.3(COL7A1):c.3140-1G>A	coding	Pathogenic
3	48587178	C	T	C48587178T	COL7A1	NM_000094.3(COL7A1):c.3139+12G>A	noncoding	Benign
3	48587423	G	A	G48587423A	COL7A1	NM_000094.3(COL7A1):c.2989C>T:p.Gln997Ter	coding	Pathogenic
3	48587833	T	C	T48587833C	COL7A1	NM_000094.3(COL7A1):c.2817A>G:p.Pro939=	coding	Benign
3	48587884	G	A	G48587884A	COL7A1	NM_000094.3(COL7A1):c.2766C>T:p.Asp922=	coding	Benign
3	48588280	A	G	A48588280G	COL7A1	NM_000094.3(COL7A1):c.2710+2T>C	noncoding	Pathogenic
3	48588293	C	T	C48588293T	COL7A1	NM_000094.3(COL7A1):c.2699G>A:p.Trp900Ter	coding	Pathogenic
3	48589312	C	T	C48589312T	COL7A1	NM_000094.3(COL7A1):c.2314+15G>A	noncoding	Benign
3	48589399	C	T	C48589399T	COL7A1	NM_000094.3(COL7A1):c.2242G>A:p.Glu748Lys	coding	Benign/Likely_benign
3	48590197	G	A	G48590197A	COL7A1	NM_000094.3(COL7A1):c.2050+16C>T	noncoding	Benign
3	48590258	G	A	G48590258A	COL7A1	NM_000094.3(COL7A1):c.2005C>T:p.Arg669Ter	coding	Pathogenic
3	48590529	C	A	C48590529A	COL7A1	NM_000094.3(COL7A1):c.1836G>T:p.Thr612=	coding	Benign
3	48590581	G	A	G48590581A	COL7A1	NM_000094.3(COL7A1):c.1784C>T:p.Pro595Leu	coding	Benign
3	48590585	C	G	C48590585G	COL7A1	NM_000094.3(COL7A1):c.1781-1G>C	coding	Pathogenic
3	48590721	G	A	G48590721A	COL7A1	NM_000094.3(COL7A1):c.1732C>T:p.Arg578Ter	coding	Pathogenic
3	48590817	C	T	C48590817T	COL7A1	NM_000094.3(COL7A1):c.1637-1G>A	coding	Pathogenic/Likely_pathogenic
3	48591472	C	T	C48591472T	COL7A1	NM_000094.3(COL7A1):c.1628G>A:p.Ser543Asn	coding	Benign
3	48591527	G	A	G48591527A	COL7A1	NM_000094.3(COL7A1):c.1573C>T:p.Arg525Ter	coding	Pathogenic
3	48591536	G	A	G48591536A	COL7A1	NM_000094.4(COL7A1):c.1564C>T:p.Gln522Ter	coding	Pathogenic
3	48591573	G	A	G48591573A	COL7A1	NM_000094.3(COL7A1):c.1527C>T:p.Ser509=	coding	Benign/Likely_benign
3	48591797	T	C	T48591797C	COL7A1	NM_000094.3(COL7A1):c.1383A>G:p.Val461=	coding	Benign
3	48592151	G	C	G48592151C	COL7A1	NM_000094.3(COL7A1):c.1191C>G:p.Thr397=	coding	Benign
3	48592613	G	T	G48592613T	COL7A1	NM_000094.3(COL7A1):c.933C>A:p.Tyr311Ter	coding	Pathogenic
3	48592819	G	A	G48592819A	COL7A1	NM_000094.3(COL7A1):c.802C>T:p.Pro268Ser	coding	Benign/Likely_benign
3	48592870	G	A	G48592870A	COL7A1	NM_000094.3(COL7A1):c.751C>T:p.Gln251Ter	coding	Pathogenic
3	48592915	G	A	G48592915A	COL7A1	NM_000094.3(COL7A1):c.706C>T:p.Arg236Ter	coding	Pathogenic
3	48592946	T	C	T48592946C	COL7A1	NM_000094.3(COL7A1):c.683-8A>G	noncoding	Benign
3	48593101	C	T	C48593101T	COL7A1	NM_000094.3(COL7A1):c.682+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	48593231	G	A	G48593231A	COL7A1	NM_000094.3(COL7A1):c.553C>T:p.Arg185Ter	coding	Pathogenic
3	48593538	T	C	T48593538C	COL7A1	NM_000094.3(COL7A1):c.425A>G:p.Lys142Arg	coding	Pathogenic
3	48593554	G	A	G48593554A	COL7A1	NM_000094.3(COL7A1):c.409C>T:p.Arg137Ter	coding	Pathogenic
3	48593697	C	G	C48593697G	COL7A1	NM_000094.3(COL7A1):c.267-1G>C	coding	Pathogenic
3	48594545	G	A	G48594545A	COL7A1	NM_000094.3(COL7A1):c.89C>T:p.Thr30Ile	coding	Benign
3	48595076	T	C	T48595076C	COL7A1	NM_000094.3(COL7A1):c.84A>G:p.Arg28=	coding	Pathogenic
3	48595102	G	A	G48595102A	COL7A1	NM_000094.3(COL7A1):c.58C>T:p.Arg20Ter	coding	Pathogenic
3	48595106	C	G	C48595106G	COL7A1	NM_000094.3(COL7A1):c.54G>C:p.Ala18=	coding	Benign/Likely_benign
3	48595159	T	C	T48595159C	COL7A1	NM_000094.3(COL7A1):c.1A>G:p.Met1Val	coding	Pathogenic
3	48628021	G	A	G48628021A	SLC26A6	NM_022911.3(SLC26A6):c.1818C>T:p.Gly606=	coding	Benign
3	48639681	C	G	C48639681G	CELSR3	NM_001407.3(CELSR3):c.9904G>C:p.Asp3302His	coding	Benign
3	48639758	G	A	G48639758A	CELSR3	NM_001407.3(CELSR3):c.9827C>T:p.Pro3276Leu	coding	Benign
3	48639983	C	T	C48639983T	CELSR3	NM_001407.3(CELSR3):c.9602G>A:p.Arg3201Gln	coding	Benign
3	48642819	G	A	G48642819A	CELSR3	NM_001407.3(CELSR3):c.8472C>T:p.Gly2824=	coding	Benign
3	48645053	C	T	C48645053T	CELSR3	NM_001407.3(CELSR3):c.7954G>A:p.Val2652Ile	coding	Benign
3	48645117	C	T	C48645117T	CELSR3	NM_001407.3(CELSR3):c.7890G>A:p.Met2630Ile	coding	Benign
3	48646202	C	T	C48646202T	CELSR3	NM_001407.3(CELSR3):c.7351G>A:p.Gly2451Arg	coding	Benign
3	48657038	C	T	C48657038T	CELSR3	NM_001407.3(CELSR3):c.4059G>A:p.Gln1353=	coding	Benign
3	48659977	G	A	G48659977A	CELSR3	NM_001407.3(CELSR3):c.2658C>T:p.Asp886=	coding	Benign
3	48660055	A	C	A48660055C	CELSR3	NM_001407.3(CELSR3):c.2580T>G:p.Ser860Arg	coding	Benign
3	48662252	C	A	C48662252A	CELSR3	NM_001407.3(CELSR3):c.383G>T:p.Gly128Val	coding	Benign
3	48679684	G	A	G48679684A	NCKIPSD	NM_016453.4(NCKIPSD):c.1380C>T:p.Leu460=	coding	Benign
3	48857012	C	T	C48857012T	SLC25A20	NM_000387.6(SLC25A20):c.*698G>A	noncoding	Benign
3	48857353	G	A	G48857353A	SLC25A20	NM_000387.6(SLC25A20):c.*357C>T	noncoding	Benign
3	48858577	C	T	C48858577T	SLC25A20	NM_000387.6(SLC25A20):c.773G>A:p.Arg258Gln	coding	Benign/Likely_benign
3	48859097	T	C	T48859097C	SLC25A20	NM_000387.6(SLC25A20):c.713A>G:p.Gln238Arg	coding	Pathogenic
3	48859119	C	G	C48859119G	SLC25A20	NM_000387.6(SLC25A20):c.691G>C:p.Asp231His	coding	Pathogenic
3	48859587	C	T	C48859587T	SLC25A20	NM_000387.6(SLC25A20):c.576G>A:p.Trp192Ter	coding	Pathogenic
3	48859645	A	G	A48859645G	SLC25A20	NM_000387.6(SLC25A20):c.536-18T>C	noncoding	Benign
3	48862545	G	A	G48862545A	SLC25A20	NM_000387.6(SLC25A20):c.532C>T:p.Arg178Ter	coding	Pathogenic
3	48862581	G	A	G48862581A	SLC25A20	NM_000387.6(SLC25A20):c.496C>T:p.Arg166Ter	coding	Pathogenic
3	48862914	G	A	G48862914A	SLC25A20	NM_000387.6(SLC25A20):c.418-255C>T	noncoding	Benign
3	48884031	T	A	T48884031A	SLC25A20	NM_000387.6(SLC25A20):c.292A>T:p.Lys98Ter	coding	Pathogenic
3	48884126	T	G	T48884126G	SLC25A20	NM_000387.6(SLC25A20):c.199-2A>C	noncoding	Pathogenic
3	48884134	A	C	A48884134C	SLC25A20	NM_000387.6(SLC25A20):c.199-10T>G	noncoding	Pathogenic
3	48892074	T	A	T48892074A	SLC25A20	NM_000387.6(SLC25A20):c.106-2A>T	noncoding	Pathogenic
3	48898785	G	A	G48898785A	SLC25A20	NM_000387.6(SLC25A20):c.10C>T:p.Gln4Ter	coding	Pathogenic
3	49005046	G	A	G49005046A	P4HTM	NM_177939.3(P4HTM):c.1073G>A:p.Arg358His	coding	Pathogenic
3	49006809	C	T	C49006809T	P4HTM	NM_177939.3(P4HTM):c.1411C>T:p.Gln471Ter	coding	Pathogenic
3	49016236	G	T	G49016236T	DALRD3	NM_001009996.3(DALRD3):c.1251C>A:p.Tyr417Ter	coding	Pathogenic
3	49022146	T	C	T49022146C	NDUFAF3	NM_199069.2(NDUFAF3):c.2T>C:p.Met1Thr	coding	Pathogenic
3	49022497	G	C	G49022497C	NDUFAF3	NM_199069.2(NDUFAF3):c.229G>C:p.Gly77Arg	coding	Pathogenic
3	49022523	G	A	G49022523A	NDUFAF3	NM_199069.2(NDUFAF3):c.255G>A:p.Ser85=	coding	Benign
3	49022903	G	C	G49022903C	NDUFAF3	NM_199069.2(NDUFAF3):c.365G>C:p.Arg122Pro	coding	Pathogenic
3	49028810	C	T	C49028810T	IMPDH2	NM_000884.3(IMPDH2):c.99-4G>A	noncoding	Benign
3	49030617	G	A	G49030617A	QRICH1	NM_198880.3(QRICH1):c.2166C>T:p.Asp722=	coding	Benign
3	49032715	G	A	G49032715A	QRICH1	NM_198880.3(QRICH1):c.1954C>T:p.Arg652Ter	coding	Pathogenic
3	49046490	G	A	G49046490A	QRICH1	NM_198880.3(QRICH1):c.1606C>T:p.Arg536Ter	coding	Pathogenic
3	49047207	G	A	G49047207A	QRICH1	NM_198880.3(QRICH1):c.1378C>T:p.Gln460Ter	coding	Pathogenic
3	49098373	C	T	C49098373T	QARS1	NM_005051.3(QARS1):c.2064G>A:p.Glu688=	coding	Benign/Likely_benign
3	49098499	G	C	G49098499C	QARS1	NM_005051.3(QARS1):c.1957-19C>G	noncoding	Benign
3	49098686	C	G	C49098686G	QARS1	NM_005051.3(QARS1):c.1870G>C:p.Glu624Gln	coding	Benign
3	49099169	G	A	G49099169A	QARS1	NM_005051.3(QARS1):c.1699C>T:p.Arg567Ter	coding	Pathogenic
3	49099197	C	A	C49099197A	QARS1	NM_005051.3(QARS1):c.1671G>T:p.Val557=	coding	Benign/Likely_benign
3	49099233	T	C	T49099233C	QARS1	NM_005051.3(QARS1):c.1635A>G:p.Gln545=	coding	Benign
3	49099270	G	C	G49099270C	QARS1	NM_005051.3(QARS1):c.1615-17C>G	noncoding	Benign
3	49099391	G	A	G49099391A	QARS1	NM_005051.3(QARS1):c.1567C>T:p.Arg523Ter	coding	Pathogenic
3	49099511	G	A	G49099511A	QARS1	NM_005051.3(QARS1):c.1525C>T:p.Arg509Trp	coding	Benign/Likely_benign
3	49099610	C	T	C49099610T	QARS1	NM_005051.3(QARS1):c.1426G>A:p.Val476Ile	coding	Benign/Likely_benign
3	49099754	C	T	C49099754T	QARS1	NM_005051.3(QARS1):c.1388+7G>A	noncoding	Benign/Likely_benign
3	49099762	G	A	G49099762A	QARS1	NM_005051.3(QARS1):c.1387C>T:p.Arg463Ter	coding	Pathogenic
3	49099948	A	G	A49099948G	QARS1	NM_005051.3(QARS1):c.1295+13T>C	noncoding	Benign
3	49100273	G	A	G49100273A	QARS1	NM_005051.3(QARS1):c.1081C>T:p.Arg361Ter	coding	Pathogenic
3	49100296	C	A	C49100296A	QARS1	NM_005051.3(QARS1):c.1058G>T:p.Gly353Val	coding	Pathogenic
3	49100370	C	G	C49100370G	QARS1	NM_005051.3(QARS1):c.1055+10G>C	noncoding	Benign/Likely_benign
3	49100421	A	G	A49100421G	QARS1	NM_005051.3(QARS1):c.1014T>C:p.Tyr338=	coding	Benign
3	49100471	G	T	G49100471T	QARS1	NM_005051.3(QARS1):c.977-13C>A	noncoding	Benign
3	49101377	T	C	T49101377C	QARS1	NM_005051.3(QARS1):c.854A>G:p.Asn285Ser	coding	Benign
3	49101858	G	A	G49101858A	QARS1	NM_005051.3(QARS1):c.673C>T:p.Arg225Trp	coding	Benign
3	49103683	G	A	G49103683A	QARS1	NM_005051.3(QARS1):c.399C>T:p.His133=	coding	Benign
3	49104420	A	G	A49104420G	QARS1	NM_005051.3(QARS1):c.169T>C:p.Tyr57His	coding	Pathogenic
3	49104426	G	A	G49104426A	QARS1	NM_005051.3(QARS1):c.163C>T:p.Leu55=	coding	Benign
3	49104455	C	A	C49104455A	QARS1	NM_005051.3(QARS1):c.134G>T:p.Gly45Val	coding	Pathogenic/Likely_pathogenic
3	49104600	G	A	G49104600A	QARS1	NM_005051.3(QARS1):c.117+17C>T	noncoding	Benign/Likely_benign
3	49110703	C	A	C49110703A	USP19	NM_001199160.1(USP19):c.3692+8G>T	noncoding	Benign
3	49114756	A	G	A49114756G	USP19	NM_001199160.1(USP19):c.2286+7T>C	noncoding	Benign
3	49115756	C	A	C49115756A	USP19	NM_001199162.1(USP19):c.1624G>T:p.Val542Leu	coding	Pathogenic
3	49115844	C	A	C49115844A	USP19	NM_001199162.1(USP19):c.1536G>T:p.Glu512Asp	coding	Pathogenic
3	49116057	C	T	C49116057T	USP19	NM_001199160.1(USP19):c.1461G>A:p.Pro487=	coding	Benign
3	49121330	C	T	C49121330T	LAMB2	NM_002292.4(LAMB2):c.5293G>A:p.Ala1765Thr	coding	Benign
3	49121527	T	C	T49121527C	LAMB2	NM_002292.4(LAMB2):c.5166A>G:p.Gln1722=	coding	Benign/Likely_benign
3	49121723	C	A	C49121723A	LAMB2	NM_002292.4(LAMB2):c.5061G>T:p.Thr1687=	coding	Benign/Likely_benign
3	49121757	C	A	C49121757A	LAMB2	NM_002292.4(LAMB2):c.5027G>T:p.Gly1676Val	coding	Benign/Likely_benign
3	49121758	C	T	C49121758T	LAMB2	NM_002292.4(LAMB2):c.5026G>A:p.Gly1676Arg	coding	Benign/Likely_benign
3	49121927	T	C	T49121927C	LAMB2	NM_002292.4(LAMB2):c.4923+17A>G	noncoding	Benign
3	49122170	G	A	G49122170A	LAMB2	NM_002292.4(LAMB2):c.4774C>T:p.Arg1592Trp	coding	Benign
3	49122182	G	A	G49122182A	LAMB2	NM_002292.4(LAMB2):c.4762C>T:p.Gln1588Ter	coding	Pathogenic
3	49122703	C	T	C49122703T	LAMB2	NM_002292.4(LAMB2):c.4573+1G>A	noncoding	Pathogenic
3	49123113	C	T	C49123113T	LAMB2	NM_002292.4(LAMB2):c.4224+19G>A	noncoding	Benign
3	49123134	G	A	G49123134A	LAMB2	NM_002292.4(LAMB2):c.4222C>T:p.Leu1408=	coding	Benign
3	49123193	C	T	C49123193T	LAMB2	NM_002292.4(LAMB2):c.4163G>A:p.Arg1388Gln	coding	Benign/Likely_benign
3	49123322	C	T	C49123322T	LAMB2	NM_002292.4(LAMB2):c.4034G>A:p.Arg1345His	coding	Benign
3	49123571	C	A	C49123571A	LAMB2	NM_002292.4(LAMB2):c.3858G>T:p.Val1286=	coding	Benign/Likely_benign
3	49124082	C	T	C49124082T	LAMB2	NM_002292.4(LAMB2):c.3443G>A:p.Arg1148His	coding	Benign
3	49124227	T	C	T49124227C	LAMB2	NM_002292.4(LAMB2):c.3387A>G:p.Gln1129=	coding	Benign
3	49124397	C	T	C49124397T	LAMB2	NM_002292.4(LAMB2):c.3325G>A:p.Glu1109Lys	coding	Benign
3	49124627	A	G	A49124627G	LAMB2	NM_002292.4(LAMB2):c.3110-15T>C	noncoding	Benign
3	49124739	G	A	G49124739A	LAMB2	NM_002292.4(LAMB2):c.3071C>T:p.Pro1024Leu	coding	Benign/Likely_benign
3	49124851	C	T	C49124851T	LAMB2	NM_002292.4(LAMB2):c.2959G>A:p.Glu987Lys	coding	Benign
3	49124920	G	A	G49124920A	LAMB2	NM_002292.4(LAMB2):c.2890C>T:p.Arg964Ter	coding	Pathogenic
3	49125150	C	T	C49125150T	LAMB2	NM_002292.4(LAMB2):c.2740G>A:p.Gly914Arg	coding	Benign
3	49125300	G	A	G49125300A	LAMB2	NM_002292.4(LAMB2):c.2673C>T:p.Gly891=	coding	Benign
3	49125304	G	A	G49125304A	LAMB2	NM_002292.4(LAMB2):c.2669C>T:p.Thr890Ile	coding	Benign/Likely_benign
3	49125468	G	A	G49125468A	LAMB2	NM_002292.4(LAMB2):c.2505C>T:p.His835=	coding	Benign
3	49126421	C	G	C49126421G	LAMB2	NM_002292.4(LAMB2):c.2095G>C:p.Gly699Arg	coding	Benign
3	49126449	G	C	G49126449C	LAMB2	NM_002292.4(LAMB2):c.2067C>G:p.Tyr689Ter	coding	Pathogenic
3	49128787	G	A	G49128787A	LAMB2	NM_002292.4(LAMB2):c.1764C>T:p.Pro588=	coding	Benign
3	49129027	C	T	C49129027T	LAMB2	NM_002292.4(LAMB2):c.1724G>A:p.Arg575Gln	coding	Benign
3	49130023	C	T	C49130023T	LAMB2	NM_002292.4(LAMB2):c.1226-5G>A	noncoding	Benign
3	49130263	G	A	G49130263A	LAMB2	NM_002292.4(LAMB2):c.1193C>T:p.Thr398Ile	coding	Benign
3	49130334	A	T	A49130334T	LAMB2	NM_002292.4(LAMB2):c.1122T>A:p.Cys374Ter	coding	Pathogenic
3	49130815	A	G	A49130815G	LAMB2	NM_002292.4(LAMB2):c.961T>C:p.Cys321Arg	coding	Pathogenic
3	49131128	C	T	C49131128T	LAMB2	NM_002292.4(LAMB2):c.737G>A:p.Arg246Gln	coding	Pathogenic
3	49131129	G	A	G49131129A	LAMB2	NM_002292.4(LAMB2):c.736C>T:p.Arg246Trp	coding	Pathogenic
3	49131673	G	A	G49131673A	LAMB2	NM_002292.4(LAMB2):c.510C>T:p.Arg170=	coding	Benign/Likely_benign
3	49132135	T	C	T49132135C	LAMB2	NM_002292.4(LAMB2):c.440A>G:p.His147Arg	coding	Pathogenic
3	49132349	G	A	G49132349A	LAMB2	NM_002292.4(LAMB2):c.306C>T:p.Asn102=	coding	Benign
3	49132394	C	T	C49132394T	LAMB2	NM_002292.4(LAMB2):c.261G>A:p.Lys87=	coding	Benign/Likely_benign
3	49171662	C	T	C49171662T	KLHDC8B	NM_173546.3(KLHDC8B):c.-158C>T	noncoding	Pathogenic
3	49276695	C	T	C49276695T	C3orf62	NM_198562.3(C3orf62):c.178G>A:p.Val60Met	coding	Benign
3	49283991	T	C	T49283991C	USP4	NM_003363.4(USP4):c.2536A>G:p.Ile846Val	coding	Benign
3	49294431	T	C	T49294431C	USP4	NM_003363.4(USP4):c.1859A>G:p.Tyr620Cys	coding	Benign
3	49357401	G	A	G49357401A	GPX1	NM_000581.4(GPX1):c.599C>T:p.Pro200Leu	coding	Benign
3	49358048	C	A	C49358048A	GPX1	NM_000581.4(GPX1):c.231G>T:p.Pro77=	coding	Benign
3	49368494	G	A	G49368494A	RHOA	NM_001664.4(RHOA):c.211C>T:p.Pro71Ser	coding	Pathogenic
3	49375451	C	T	C49375451T	RHOA	NM_001664.4(RHOA):c.139G>A:p.Glu47Lys	coding	Pathogenic
3	49375563	C	T	C49375563T	RHOA	NM_001664.4(RHOA):c.27G>A:p.Val9=	coding	Benign
3	49416844	G	A	G49416844A	AMT	NM_000481.4(AMT):c.*696C>T	noncoding	Benign
3	49417816	A	G	A49417816G	AMT	NM_000481.3(AMT):c.1033+2T>C	noncoding	Pathogenic
3	49417892	C	T	C49417892T	AMT	NM_000481.4(AMT):c.959G>A:p.Arg320His	coding	Pathogenic
3	49417897	C	T	C49417897T	AMT	NM_000481.4(AMT):c.954G>A:p.Arg318=	coding	Benign
3	49417953	T	C	T49417953C	AMT	NM_000481.4(AMT):c.898A>G:p.Met300Val	coding	Benign/Likely_benign
3	49417965	G	A	G49417965A	AMT	NM_000481.4(AMT):c.886C>T:p.Arg296Cys	coding	Pathogenic
3	49417974	C	T	C49417974T	AMT	NM_000481.3(AMT):c.878-1G>A	coding	Pathogenic
3	49418978	C	T	C49418978T	AMT	NM_000481.4(AMT):c.870G>A:p.Trp290Ter	coding	Pathogenic
3	49419042	C	T	C49419042T	AMT	NM_000481.4(AMT):c.806G>A:p.Gly269Asp	coding	Pathogenic
3	49419054	C	T	C49419054T	AMT	NM_000481.4(AMT):c.794G>A:p.Arg265His	coding	Pathogenic/Likely_pathogenic
3	49419291	C	T	C49419291T	AMT	NM_000481.4(AMT):c.665G>A:p.Arg222His	coding	Pathogenic
3	49419292	G	A	G49419292A	AMT	NM_000481.4(AMT):c.664C>T:p.Arg222Cys	coding	Pathogenic/Likely_pathogenic
3	49419750	C	G	C49419750G	AMT	NM_000481.4(AMT):c.510G>C:p.Val170=	coding	Benign
3	49420209	A	G	A49420209G	AMT	NM_000481.3(AMT):c.471+2T>C	noncoding	Pathogenic
3	49422106	G	A	G49422106A	AMT	NM_000481.4(AMT):c.256C>T:p.Gln86Ter	coding	Pathogenic
3	49422132	G	A	G49422132A	AMT	NM_000481.4(AMT):c.230C>T:p.Ser77Leu	coding	Pathogenic/Likely_pathogenic
3	49422145	G	A	G49422145A	AMT	NM_000481.4(AMT):c.217C>T:p.Arg73Cys	coding	Pathogenic/Likely_pathogenic
3	49422198	C	T	C49422198T	AMT	NM_000481.4(AMT):c.164G>A:p.Trp55Ter	coding	Pathogenic
3	49422237	T	C	T49422237C	AMT	NM_000481.4(AMT):c.125A>G:p.His42Arg	coding	Pathogenic
3	49422451	C	T	C49422451T	AMT	NM_000481.4(AMT):c.-1G>A	coding	Benign
3	49422505	G	A	G49422505A	AMT	NM_032316.3(NICN1):c.*2328C>T	noncoding	Pathogenic
3	49470414	G	A	G49470414A	DAG1	NM_004393.6(DAG1):c.-136G>A	noncoding	Benign
3	49510128	T	C	T49510128C	DAG1	NM_004393.6(DAG1):c.-116-291T>C	noncoding	Benign
3	49510575	C	G	C49510575G	DAG1	NM_004393.6(DAG1):c.41C>G:p.Ser14Trp	coding	Benign
3	49510754	G	A	G49510754A	DAG1	NM_004393.6(DAG1):c.220G>A:p.Val74Ile	coding	Pathogenic
3	49510769	C	T	C49510769T	DAG1	NM_004393.6(DAG1):c.235C>T:p.Arg79Ter	coding	Pathogenic
3	49510793	A	G	A49510793G	DAG1	NM_004393.6(DAG1):c.259A>G:p.Ile87Val	coding	Benign/Likely_benign
3	49510820	G	A	G49510820A	DAG1	NM_001165928.3(DAG1):c.285+1G>A	coding	Pathogenic
3	49510861	T	C	T49510861C	DAG1	NM_004393.6(DAG1):c.285+42T>C	noncoding	Benign
3	49530662	G	A	G49530662A	DAG1	NM_004393.6(DAG1):c.286-135G>A	noncoding	Benign
3	49530841	G	A	G49530841A	DAG1	NM_004393.6(DAG1):c.330G>A:p.Trp110Ter	coding	Pathogenic
3	49530842	G	A	G49530842A	DAG1	NM_004393.6(DAG1):c.331G>A:p.Asp111Asn	coding	Benign
3	49530895	G	T	G49530895T	DAG1	NM_004393.6(DAG1):c.384G>T:p.Val128=	coding	Benign/Likely_benign
3	49531744	G	A	G49531744A	DAG1	NM_004393.6(DAG1):c.1233G>A:p.Val411=	coding	Benign/Likely_benign
3	49532212	C	T	C49532212T	DAG1	NM_004393.6(DAG1):c.1701C>T:p.Ser567=	coding	Benign
3	49532742	G	C	G49532742C	DAG1	NM_004393.6(DAG1):c.2231G>C:p.Ser744Thr	coding	Benign
3	49532767	C	T	C49532767T	DAG1	NM_004393.6(DAG1):c.2256C>T:p.His752=	coding	Benign
3	49532782	C	T	C49532782T	DAG1	NM_004393.6(DAG1):c.2271C>T:p.Ala757=	coding	Benign
3	49533031	T	C	T49533031C	DAG1	NM_004393.6(DAG1):c.2520T>C:p.Thr840=	coding	Benign/Likely_benign
3	49642697	G	A	G49642697A	BSN	NM_003458.4(BSN):c.1063G>A:p.Ala355Thr	coding	Benign
3	49650722	C	T	C49650722T	BSN	NM_003458.4(BSN):c.1629C>T:p.Ala543=	coding	Benign
3	49655001	C	T	C49655001T	BSN	NM_003458.4(BSN):c.5445C>T:p.Asp1815=	coding	Benign
3	49655271	C	T	C49655271T	BSN	NM_003458.4(BSN):c.5715C>T:p.Tyr1905=	coding	Benign
3	49655496	G	A	G49655496A	BSN	NM_003458.4(BSN):c.5940G>A:p.Leu1980=	coding	Benign
3	49661065	G	A	G49661065A	BSN	NM_003458.4(BSN):c.9220G>A:p.Gly3074Arg	coding	Benign
3	49661091	C	T	C49661091T	BSN	NM_003458.4(BSN):c.9246C>T:p.Thr3082=	coding	Benign
3	49664477	C	T	C49664477T	BSN	NM_003458.4(BSN):c.11663C>T:p.Pro3888Leu	coding	Benign
3	49664526	A	G	A49664526G	BSN	NM_003458.4(BSN):c.11712A>G:p.Ala3904=	coding	Benign
3	49685273	G	A	G49685273A	MST1	NM_020998.3(MST1):c.1533C>T:p.Ser511=	coding	Benign
3	49687032	C	G	C49687032G	MST1	NM_020998.3(MST1):c.643G>C:p.Gly215Arg	coding	Benign
3	49702671	C	T	C49702671T	RNF123	NM_022064.5(RNF123):c.1668C>T:p.Cys556=	coding	Benign
3	49720606	G	C	G49720606C	RNF123	NM_022064.5(RNF123):c.3596G>C:p.Gly1199Ala	coding	Benign
3	49721835	C	T	C49721835T	GMPPB	NM_021971.4(GMPPB):c.1000G>A:p.Asp334Asn	coding	Pathogenic/Likely_pathogenic
3	49722057	G	A	G49722057A	GMPPB	NM_021971.4(GMPPB):c.859C>T:p.Arg287Trp	coding	Pathogenic
3	49722126	G	A	G49722126A	GMPPB	NM_021971.4(GMPPB):c.790C>T:p.Gln264Ter	coding	Pathogenic
3	49722343	A	G	A49722343G	GMPPB	NM_021971.4(GMPPB):c.656T>C:p.Ile219Thr	coding	Pathogenic
3	49722604	G	A	G49722604A	GMPPB	NM_021971.4(GMPPB):c.553C>T:p.Arg185Cys	coding	Pathogenic/Likely_pathogenic
3	49722641	G	A	G49722641A	GMPPB	NM_021971.4(GMPPB):c.516C>T:p.Asn172=	coding	Benign/Likely_benign
3	49722667	G	A	G49722667A	GMPPB	NM_021971.4(GMPPB):c.490C>T:p.Gln164Ter	coding	Pathogenic
3	49722699	G	A	G49722699A	GMPPB	NM_021971.4(GMPPB):c.458C>T:p.Thr153Ile	coding	Pathogenic/Likely_pathogenic
3	49722998	G	C	G49722998C	GMPPB	NM_021971.4(GMPPB):c.376C>G:p.His126Asp	coding	Benign
3	49723044	G	A	G49723044A	GMPPB	NM_021971.4(GMPPB):c.330C>T:p.Asp110=	coding	Benign
3	49723066	G	A	G49723066A	GMPPB	NM_021971.4(GMPPB):c.308C>T:p.Pro103Leu	coding	Pathogenic
3	49723115	C	T	C49723115T	GMPPB	NM_021971.4(GMPPB):c.260-1G>A	coding	Pathogenic
3	49723293	G	A	G49723293A	GMPPB	NM_021971.4(GMPPB):c.220C>T:p.Arg74Ter	coding	Pathogenic
3	49723618	G	A	G49723618A	GMPPB	NM_021971.4(GMPPB):c.109C>T:p.Gln37Ter	coding	Pathogenic
3	49723648	C	G	C49723648G	GMPPB	NM_021971.4(GMPPB):c.79G>C:p.Asp27His	coding	Pathogenic/Likely_pathogenic
3	49723663	G	A	G49723663A	GMPPB	NM_021971.4(GMPPB):c.64C>T:p.Pro22Ser	coding	Pathogenic
3	49724138	G	A	G49724138A	GMPPB	NM_013334.3(GMPPB):c.-412C>T	noncoding	Benign
3	49724172	C	T	C49724172T	GMPPB	NM_013334.3(GMPPB):c.-446G>A	noncoding	Benign
3	49724180	C	T	C49724180T	GMPPB	NM_013334.3(GMPPB):c.-454G>A	noncoding	Benign
3	49808093	T	C	T49808093C	UBA7	NM_003335.3(UBA7):c.2450A>G:p.His817Arg	coding	Benign
3	49809100	C	A	C49809100A	UBA7	NM_003335.3(UBA7):c.2223G>T:p.Leu741=	coding	Benign
3	49829234	G	A	G49829234A	TRAIP	NM_005879.3(TRAIP):c.1288-9C>T	noncoding	Benign
3	49829476	C	G	C49829476G	TRAIP	NM_005879.3(TRAIP):c.1269G>C:p.Arg423=	coding	Benign
3	49841890	G	A	G49841890A	TRAIP	NM_005879.3(TRAIP):c.553C>T:p.Arg185Ter	coding	Pathogenic
3	49843906	C	T	C49843906T	TRAIP	NM_005879.3(TRAIP):c.303G>A:p.Gln101=	coding	Benign
3	49848209	A	C	A49848209C	TRAIP	NM_005879.3(TRAIP):c.99-9T>G	noncoding	Benign
3	49856402	G	A	G49856402A	TRAIP	NM_005879.3(TRAIP):c.52C>T:p.Arg18Cys	coding	Pathogenic
3	49887514	G	A	G49887514A	MST1R	NM_002447.4(MST1R):c.3996C>T:p.Pro1332=	coding	Benign
3	49890602	G	A	G49890602A	MST1R	NM_002447.4(MST1R):c.3693C>T:p.Arg1231=	coding	Benign
3	49896028	C	T	C49896028T	MST1R	NM_002447.4(MST1R):c.2729G>A:p.Arg910Gln	coding	Benign
3	49898070	T	A	T49898070A	MST1R	NM_002447.4(MST1R):c.1861A>T:p.Lys621Ter	coding	Benign
3	49898093	T	G	T49898093G	MST1R	NM_002447.4(MST1R):c.1838A>C:p.Gln613Pro	coding	Benign
3	49898927	C	T	C49898927T	MST1R	NM_002447.4(MST1R):c.1488G>A:p.Gln496=	coding	Benign
3	49899175	T	C	T49899175C	MST1R	NM_002447.4(MST1R):c.1319A>G:p.Asn440Ser	coding	Benign
3	49903066	A	G	A49903066G	MST1R	NM_002447.4(MST1R):c.544T>C:p.Leu182=	coding	Benign
3	49903387	G	T	G49903387T	MST1R	NM_002447.4(MST1R):c.223C>A:p.Arg75Ser	coding	Benign
3	49968593	G	A	G49968593A	RBM6	NM_005777.3(RBM6):c.1168G>A:p.Gly390Ser	coding	Benign
3	50059680	A	G	A50059680G	RBM6	NM_005777.3(RBM6):c.2162A>G:p.Asn721Ser	coding	Benign
3	50066325	G	A	G50066325A	RBM6	NM_005777.3(RBM6):c.2766G>A:p.Gln922=	coding	Benign
3	50176800	C	T	C50176800T	SEMA3F	NM_004186.5(SEMA3F):c.582C>T:p.Leu194=	coding	Benign
3	50191596	G	C	G50191596C	GNAT1	NM_144499.2(GNAT1):c.-130G>C	noncoding	Benign
3	50191724	C	G	C50191724G	GNAT1	NM_144499.3(GNAT1):c.-2C>G	noncoding	Benign
3	50191763	G	A	G50191763A	GNAT1	NM_144499.3(GNAT1):c.38G>A:p.Arg13Lys	coding	Benign
3	50191808	G	A	G50191808A	GNAT1	NM_144499.3(GNAT1):c.83G>A:p.Arg28Gln	coding	Benign
3	50193139	G	A	G50193139A	GNAT1	NM_144499.3(GNAT1):c.113G>A:p.Gly38Asp	coding	Pathogenic
3	50193143	G	A	G50193143A	GNAT1	NM_144499.3(GNAT1):c.117G>A:p.Glu39=	coding	Benign
3	50193356	G	A	G50193356A	GNAT1	NM_144499.3(GNAT1):c.241G>A:p.Val81Ile	coding	Benign
3	50193508	C	T	C50193508T	GNAT1	NM_144499.3(GNAT1):c.294C>T:p.Asp98=	coding	Benign
3	50193600	A	G	A50193600G	GNAT1	NM_144499.3(GNAT1):c.386A>G:p.Asp129Gly	coding	Pathogenic
3	50193609	T	G	T50193609G	GNAT1	NM_144499.3(GNAT1):c.395T>G:p.Ile132Ser	coding	Benign
3	50193625	G	A	G50193625A	GNAT1	NM_144499.3(GNAT1):c.411G>A:p.Glu137=	coding	Benign
3	50193763	G	T	G50193763T	GNAT1	NM_144499.3(GNAT1):c.460G>T:p.Asp154Tyr	coding	Pathogenic
3	50194111	C	G	C50194111G	GNAT1	NM_144499.3(GNAT1):c.598C>G:p.Gln200Glu	coding	Pathogenic
3	50194188	C	T	C50194188T	GNAT1	NM_144499.3(GNAT1):c.675C>T:p.Ala225=	coding	Benign
3	50194778	C	T	C50194778T	GNAT1	NM_144499.3(GNAT1):c.876C>T:p.Tyr292=	coding	Benign/Likely_benign
3	50194841	G	A	G50194841A	GNAT1	NM_144499.3(GNAT1):c.939G>A:p.Lys313=	coding	Benign
3	50195449	C	G	C50195449G	GNAT1	NM_144499.3(GNAT1):c.*183C>G	noncoding	Benign
3	50195676	A	G	A50195676G	GNAT1	NM_144499.3(GNAT1):c.*410A>G	noncoding	Benign
3	50195782	T	G	T50195782G	GNAT1	NM_144499.3(GNAT1):c.*516T>G	noncoding	Benign
3	50195884	C	T	C50195884T	GNAT1	NM_144499.3(GNAT1):c.*618C>T	noncoding	Benign
3	50196440	G	A	G50196440A	GNAT1	NM_144499.3(GNAT1):c.*1174G>A	noncoding	Benign
3	50196453	G	A	G50196453A	GNAT1	NM_144499.3(GNAT1):c.*1187G>A	noncoding	Benign
3	50196663	G	T	G50196663T	GNAT1	NM_144499.3(GNAT1):c.*1397G>T	noncoding	Benign
3	50196693	A	G	A50196693G	GNAT1	NM_144499.3(GNAT1):c.*1427A>G	noncoding	Benign
3	50256262	C	G	C50256262G	GNAI2	NM_002070.4(GNAI2):c.535C>G:p.Arg179Gly	coding	Pathogenic
3	50256262	C	T	C50256262T	GNAI2	NM_002070.4(GNAI2):c.535C>T:p.Arg179Cys	coding	Pathogenic
3	50256263	G	A	G50256263A	GNAI2	NM_002070.4(GNAI2):c.536G>A:p.Arg179His	coding	Pathogenic
3	50256729	T	A	T50256729A	GNAI2	NM_002070.4(GNAI2):c.600T>A:p.Phe200Leu	coding	Pathogenic
3	50274045	G	A	G50274045A	SEMA3B	NM_001290060.2(SEMA3B):c.1125G>A:p.Pro375=	coding	Benign
3	50290414	C	G	C50290414G	IFRD2	NM_006764.4(IFRD2):c.429G>C:p.Glu143Asp	coding	Benign
3	50299991	G	A	G50299991A	HYAL1	NM_033159.4(HYAL1):c.*492C>T	noncoding	Benign
3	50300262	A	G	A50300262G	HYAL1	NM_033159.4(HYAL1):c.*221T>C	noncoding	Benign
3	50300514	G	C	G50300514C	HYAL1	NM_033159.4(HYAL1):c.1277C>G:p.Ala426Gly	coding	Benign
3	50300616	G	A	G50300616A	HYAL1	NM_033159.4(HYAL1):c.1175C>T:p.Thr392Met	coding	Benign
3	50302184	G	C	G50302184C	HYAL1	NM_033159.4(HYAL1):c.773C>G:p.Ser258Ter	coding	Pathogenic
3	50302191	C	T	C50302191T	HYAL1	NM_033159.4(HYAL1):c.766G>A:p.Gly256Arg	coding	Benign
3	50302212	G	A	G50302212A	HYAL1	NM_033159.4(HYAL1):c.745C>T:p.Pro249Ser	coding	Benign
3	50302336	G	T	G50302336T	HYAL1	NM_033159.4(HYAL1):c.621C>A:p.Cys207Ter	coding	Pathogenic
3	50302516	G	C	G50302516C	HYAL1	NM_033159.4(HYAL1):c.441C>G:p.Tyr147Ter	coding	Pathogenic
3	50302573	G	A	G50302573A	HYAL1	NM_033159.4(HYAL1):c.384C>T:p.Ile128=	coding	Benign
3	50302634	C	T	C50302634T	HYAL1	NM_033159.4(HYAL1):c.323G>A:p.Arg108His	coding	Benign
3	50302687	C	G	C50302687G	HYAL1	NM_033159.4(HYAL1):c.270G>C:p.Glu90Asp	coding	Benign/Likely_benign
3	50302824	C	A	C50302824A	HYAL1	NM_033159.4(HYAL1):c.133G>T:p.Glu45Ter	coding	Pathogenic
3	50303895	C	T	C50303895T	HYAL1	NM_153281.1(HYAL1):c.-132G>A	noncoding	Benign
3	50319737	A	G	A50319737G	HYAL2	NM_003773.5(HYAL2):c.753T>C:p.Ser251=	coding	Benign
3	50331566	G	A	G50331566A	RASSF1	NM_170714.2(RASSF1):c.765C>T:p.His255=	coding	Benign
3	50331836	T	C	T50331836C	RASSF1	NM_170714.2(RASSF1):c.495A>G:p.Thr165=	coding	Benign
3	50341826	G	A	G50341826A	ZMYND10	NM_015896.4(ZMYND10):c.1105C>T:p.Arg369Trp	coding	Benign
3	50341858	T	C	T50341858C	ZMYND10	NM_015896.4(ZMYND10):c.1073A>G:p.Gln358Arg	coding	Benign
3	50341912	C	T	C50341912T	ZMYND10	NM_015896.4(ZMYND10):c.1019G>A:p.Arg340Gln	coding	Benign
3	50342044	G	T	G50342044T	ZMYND10	NM_015896.4(ZMYND10):c.970C>A:p.Pro324Thr	coding	Benign
3	50342047	G	A	G50342047A	ZMYND10	NM_015896.4(ZMYND10):c.967C>T:p.Gln323Ter	coding	Pathogenic
3	50342393	T	A	T50342393A	ZMYND10	NM_015896.4(ZMYND10):c.873+4A>T	noncoding	Benign
3	50342473	A	G	A50342473G	ZMYND10	NM_015896.4(ZMYND10):c.797T>C:p.Leu266Pro	coding	Pathogenic
3	50342543	G	A	G50342543A	ZMYND10	NM_015896.4(ZMYND10):c.727C>T:p.Arg243Cys	coding	Benign
3	50343306	C	T	C50343306T	ZMYND10	NM_015896.4(ZMYND10):c.510+1G>A	noncoding	Pathogenic
3	50343337	C	T	C50343337T	ZMYND10	NM_015896.4(ZMYND10):c.480G>A:p.Gly160=	coding	Benign
3	50343339	C	T	C50343339T	ZMYND10	NM_015896.4(ZMYND10):c.478G>A:p.Gly160Arg	coding	Benign
3	50343622	A	G	A50343622G	ZMYND10	NM_015896.4(ZMYND10):c.319-6T>C	noncoding	Benign
3	50345495	A	G	A50345495G	ZMYND10	NM_015896.4(ZMYND10):c.85T>C:p.Ser29Pro	coding	Pathogenic
3	50345533	A	C	A50345533C	ZMYND10	NM_015896.4(ZMYND10):c.47T>G:p.Val16Gly	coding	Pathogenic
3	50347891	G	A	G50347891A	NPRL2	NM_006545.5(NPRL2):c.943C>T:p.Gln315Ter	coding	Pathogenic
3	50348173	G	A	G50348173A	NPRL2	NM_006545.5(NPRL2):c.883C>T:p.Arg295Ter	coding	Pathogenic
3	50348958	C	T	C50348958T	NPRL2	NM_006545.5(NPRL2):c.501G>A:p.Pro167=	coding	Benign
3	50349690	A	G	A50349690G	NPRL2	NM_006545.5(NPRL2):c.314T>C:p.Leu105Pro	coding	Pathogenic
3	50364700	G	A	G50364700A	CACNA2D2	NM_001174051.3(CACNA2D2):c.3419C>T:p.Pro1140Leu	coding	Benign/Likely_benign
3	50364705	C	T	C50364705T	CACNA2D2	NM_001174051.3(CACNA2D2):c.3414G>A:p.Pro1138=	coding	Benign
3	50364729	G	A	G50364729A	CACNA2D2	NM_001174051.3(CACNA2D2):c.3390C>T:p.Leu1130=	coding	Benign/Likely_benign
3	50364749	C	T	C50364749T	CACNA2D2	NM_001174051.3(CACNA2D2):c.3370G>A:p.Val1124Ile	coding	Benign
3	50364878	C	G	C50364878G	CACNA2D2	NM_001174051.3(CACNA2D2):c.3312+10G>C	noncoding	Benign
3	50365146	A	G	A50365146G	CACNA2D2	NM_001174051.3(CACNA2D2):c.3158T>C:p.Leu1053Pro	coding	Pathogenic
3	50365164	A	G	A50365164G	CACNA2D2	NM_001174051.3(CACNA2D2):c.3140T>C:p.Leu1047Pro	coding	Pathogenic
3	50365633	C	T	C50365633T	CACNA2D2	NM_001174051.3(CACNA2D2):c.2992G>A:p.Asp998Asn	coding	Pathogenic
3	50375821	C	T	C50375821T	CACNA2D2	NM_001174051.3(CACNA2D2):c.1833G>A:p.Lys611=	coding	Benign/Likely_benign
3	50376141	C	T	C50376141T	CACNA2D2	NM_001174051.3(CACNA2D2):c.1674G>A:p.Val558=	coding	Benign
3	50377473	G	A	G50377473A	CACNA2D2	NM_006030.4(CACNA2D2):c.1620C>T:p.Asn540=	coding	Benign
3	50377538	G	A	G50377538A	CACNA2D2	NM_001174051.3(CACNA2D2):c.1555C>T:p.Gln519Ter	coding	Pathogenic
3	50378095	T	C	T50378095C	CACNA2D2	NM_001174051.3(CACNA2D2):c.1392A>G:p.Glu464=	coding	Benign
3	50378998	G	T	G50378998T	CACNA2D2	NM_001174051.3(CACNA2D2):c.1261-5C>A	noncoding	Benign
3	50384233	G	A	G50384233A	CACNA2D2	NM_001174051.3(CACNA2D2):c.615C>T:p.Tyr205=	coding	Benign
3	50476135	C	T	C50476135T	CACNA2D2	NM_001174051.3(CACNA2D2):c.271G>A:p.Val91Ile	coding	Benign
3	50476182	C	T	C50476182T	CACNA2D2	NM_006030.4(CACNA2D2):c.224G>A:p.Arg75Gln	coding	Benign
3	50607715	C	T	C50607715T	CISH	NM_013324.6(CISH):c.720G>A:p.Leu240=	coding	Benign
3	50607865	G	A	G50607865A	CISH	NM_013324.6(CISH):c.570C>T:p.Ser190=	coding	Benign
3	50644422	T	C	T50644422C	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.518T>C:p.Leu173Pro	coding	Pathogenic
3	51064505	C	T	C51064505T	DOCK3	NM_004947.5(DOCK3):c.373C>T:p.Leu125=	coding	Benign
3	51064514	C	T	C51064514T	DOCK3	NM_004947.5(DOCK3):c.382C>T:p.Gln128Ter	coding	Pathogenic
3	51208772	A	G	A51208772G	DOCK3	NM_004947.5(DOCK3):c.1038-2A>G	noncoding	Pathogenic
3	51214170	G	A	G51214170A	DOCK3	NM_004947.5(DOCK3):c.1175G>A:p.Arg392Gln	coding	Pathogenic
3	51228655	C	T	C51228655T	DOCK3	NM_004947.5(DOCK3):c.1648-6C>T	noncoding	Benign/Likely_benign
3	51229554	G	A	G51229554A	DOCK3	NM_004947.5(DOCK3):c.1862G>A:p.Arg621Gln	coding	Benign
3	51341357	A	G	A51341357G	DOCK3	NM_004947.5(DOCK3):c.3887A>G:p.Lys1296Arg	coding	Pathogenic
3	51374476	C	T	C51374476T	DOCK3	NM_004947.5(DOCK3):c.5301C>T:p.Pro1767=	coding	Benign
3	51389023	C	T	C51389023T	MANF	NM_006010.6(MANF):c.483C>T:p.Ile161=	coding	Benign
3	51627761	T	C	T51627761C	RAD54L2	NM_015106.4(RAD54L2):c.341+7T>C	noncoding	Benign
3	51637240	C	G	C51637240G	RAD54L2	NM_015106.4(RAD54L2):c.1419C>G:p.Ala473=	coding	Benign
3	51638225	A	G	A51638225G	RAD54L2	NM_015106.4(RAD54L2):c.1764A>G:p.Arg588=	coding	Benign
3	51646299	T	C	T51646299C	RAD54L2	NM_015106.4(RAD54L2):c.2844T>C:p.His948=	coding	Benign
3	51662493	C	T	C51662493T	RAD54L2	NM_015106.4(RAD54L2):c.3477C>T:p.Pro1159=	coding	Benign
3	51712832	C	T	C51712832T	GRM2	NM_000839.5(GRM2):c.810C>T:p.Thr270=	coding	Benign
3	51715089	A	G	A51715089G	GRM2	NM_000839.5(GRM2):c.1316A>G:p.Asn439Ser	coding	Benign
3	51717744	C	T	C51717744T	GRM2	NM_000839.5(GRM2):c.2472C>T:p.Asn824=	coding	Benign
3	51718088	G	A	G51718088A	GRM2	NM_000839.5(GRM2):c.2595G>A:p.Val865=	coding	Benign
3	51943369	C	T	C51943369T	PARP3	NM_001003931.3(PARP3):c.35C>T:p.Pro12Leu	coding	Benign
3	51943476	G	T	G51943476T	PARP3	NM_001003931.3(PARP3):c.142G>T:p.Ala48Ser	coding	Benign
3	51943496	C	T	C51943496T	PARP3	NM_001003931.3(PARP3):c.162C>T:p.Arg54=	coding	Benign
3	51944587	G	A	G51944587A	PARP3	NM_001003931.3(PARP3):c.522+9G>A	noncoding	Benign
3	51946220	G	A	G51946220A	PARP3	NM_001003931.3(PARP3):c.1174G>A:p.Gly392Ser	coding	Benign
3	51984133	C	G	C51984133G	ACY1	NM_000666.3(ACY1):c.69C>G:p.Arg23=	coding	Benign
3	51984145	C	G	C51984145G	ACY1	NM_000666.3(ACY1):c.81C>G:p.Pro27=	coding	Benign
3	51985247	G	C	G51985247C	ACY1	NM_000666.3(ACY1):c.135G>C:p.Leu45=	coding	Benign
3	51986254	G	A	G51986254A	ACY1	NM_000666.3(ACY1):c.360-1G>A	noncoding	Pathogenic
3	51986395	C	T	C51986395T	ACY1	NM_000666.3(ACY1):c.437-20C>T	noncoding	Benign
3	51986588	C	A	C51986588A	ACY1	NM_000666.3(ACY1):c.527-17C>A	noncoding	Benign
3	51986614	A	G	A51986614G	ACY1	NM_000666.3(ACY1):c.536A>G:p.Asn179Ser	coding	Benign/Likely_benign
3	51986993	C	T	C51986993T	ACY1	NM_000666.3(ACY1):c.589C>T:p.Arg197Trp	coding	Pathogenic
3	51987076	A	G	A51987076G	ACY1	NM_000666.3(ACY1):c.657+15A>G	noncoding	Benign
3	51987188	A	C	A51987188C	ACY1	NM_000666.3(ACY1):c.699A>C:p.Glu233Asp	coding	Pathogenic
3	51987300	A	G	A51987300G	ACY1	NM_000666.3(ACY1):c.708-9A>G	noncoding	Benign
3	51988836	T	C	T51988836C	ACY1	NM_000666.3(ACY1):c.1062+10T>C	noncoding	Benign
3	52122445	A	C	A52122445C	POC1A	NM_015426.5(POC1A):c.915T>G:p.Val305=	coding	Benign
3	52125149	C	T	C52125149T	POC1A	NM_015426.5(POC1A):c.846G>A:p.Thr282=	coding	Benign
3	52147039	A	G	A52147039G	POC1A	NM_015426.5(POC1A):c.512T>C:p.Leu171Pro	coding	Pathogenic
3	52149311	G	A	G52149311A	POC1A	NM_015426.5(POC1A):c.354C>T:p.Phe118=	coding	Benign
3	52149850	G	A	G52149850A	POC1A	NM_015426.5(POC1A):c.241C>T:p.Arg81Ter	coding	Pathogenic
3	52149942	G	A	G52149942A	POC1A	NM_015426.5(POC1A):c.149C>T:p.Pro50Leu	coding	Benign
3	52199279	G	A	G52199279A	ALAS1	NM_000688.6(ALAS1):c.38G>A:p.Arg13Gln	coding	Benign
3	52221223	G	A	G52221223A	TLR9	NM_017442.3(TLR9):c.3093C>T:p.Ala1031=	coding	Benign
3	52221728	C	T	C52221728T	TLR9	NM_017442.3(TLR9):c.2588G>A:p.Arg863Gln	coding	Benign
3	52221904	C	T	C52221904T	TLR9	NM_017442.3(TLR9):c.2412G>A:p.Gln804=	coding	Benign
3	52222627	G	A	G52222627A	TLR9	NM_017442.3(TLR9):c.1689C>T:p.Gly563=	coding	Benign
3	52222789	C	T	C52222789T	TLR9	NM_017442.3(TLR9):c.1527G>A:p.Ser509=	coding	Benign
3	52223167	C	T	C52223167T	TLR9	NM_017442.3(TLR9):c.1149G>A:p.Thr383=	coding	Benign
3	52223620	G	A	G52223620A	TLR9	NM_017442.3(TLR9):c.696C>T:p.Ile232=	coding	Benign
3	52223875	G	T	G52223875T	TLR9	NM_017442.3(TLR9):c.441C>A:p.Ser147=	coding	Benign
3	52224303	G	A	G52224303A	TLR9	NM_017442.3(TLR9):c.13C>T:p.Arg5Cys	coding	Benign
3	52290363	C	T	C52290363T	GLYCTK	NM_145262.4(GLYCTK):c.21C>T:p.Val7=	coding	Benign
3	52290421	C	T	C52290421T	GLYCTK	NM_145262.4(GLYCTK):c.79C>T:p.Arg27Cys	coding	Benign
3	52291035	G	A	G52291035A	GLYCTK	NM_145262.4(GLYCTK):c.453G>A:p.Ala151=	coding	Benign
3	52292397	A	G	A52292397G	GLYCTK	NM_145262.4(GLYCTK):c.843A>G:p.Pro281=	coding	Benign
3	52292735	C	T	C52292735T	GLYCTK	NM_145262.4(GLYCTK):c.1181C>T:p.Thr394Ile	coding	Benign/Likely_benign
3	52292805	G	A	G52292805A	GLYCTK	NM_145262.4(GLYCTK):c.1251G>A:p.Ser417=	coding	Benign
3	52293022	C	T	C52293022T	GLYCTK	NM_145262.4(GLYCTK):c.1468C>T:p.His490Tyr	coding	Benign
3	52293120	T	C	T52293120C	GLYCTK	NM_145262.4(GLYCTK):c.1566T>C:p.Pro522=	coding	Benign
3	52326302	T	C	T52326302C	DNAH1	NM_015512.5(DNAH1):c.569T>C:p.Ile190Thr	coding	Benign
3	52326309	C	A	C52326309A	DNAH1	NM_015512.5(DNAH1):c.576C>A:p.Ile192=	coding	Benign
3	52331207	G	A	G52331207A	DNAH1	NM_015512.5(DNAH1):c.931G>A:p.Asp311Asn	coding	Benign
3	52331209	C	T	C52331209T	DNAH1	NM_015512.5(DNAH1):c.933C>T:p.Asp311=	coding	Benign
3	52331245	C	T	C52331245T	DNAH1	NM_015512.5(DNAH1):c.969C>T:p.Asp323=	coding	Benign
3	52332280	A	G	A52332280G	DNAH1	NM_015512.5(DNAH1):c.1172A>G:p.Tyr391Cys	coding	Benign
3	52332352	A	G	A52332352G	DNAH1	NM_015512.5(DNAH1):c.1244A>G:p.Lys415Arg	coding	Benign
3	52344486	G	T	G52344486T	DNAH1	NM_015512.5(DNAH1):c.1287-4G>T	noncoding	Benign
3	52344490	G	A	G52344490A	DNAH1	NM_015512.5(DNAH1):c.1287G>A:p.Ser429=	coding	Benign
3	52344524	G	C	G52344524C	DNAH1	NM_015512.5(DNAH1):c.1321G>C:p.Val441Leu	coding	Benign
3	52345604	C	T	C52345604T	DNAH1	NM_015512.5(DNAH1):c.1554C>T:p.Ala518=	coding	Benign
3	52345622	C	T	C52345622T	DNAH1	NM_015512.5(DNAH1):c.1572C>T:p.Thr524=	coding	Benign
3	52345640	C	T	C52345640T	DNAH1	NM_015512.5(DNAH1):c.1590C>T:p.His530=	coding	Benign
3	52346574	A	C	A52346574C	DNAH1	NM_015512.5(DNAH1):c.1759A>C:p.Asn587His	coding	Benign
3	52346604	C	T	C52346604T	DNAH1	NM_015512.5(DNAH1):c.1789C>T:p.Arg597Cys	coding	Benign
3	52346669	A	C	A52346669C	DNAH1	NM_015512.5(DNAH1):c.1854A>C:p.Ser618=	coding	Benign
3	52347825	C	T	C52347825T	DNAH1	NM_015512.5(DNAH1):c.1957C>T:p.Pro653Ser	coding	Benign
3	52347837	C	G	C52347837G	DNAH1	NM_015512.5(DNAH1):c.1969C>G:p.Pro657Ala	coding	Benign
3	52347849	A	G	A52347849G	DNAH1	NM_015512.5(DNAH1):c.1981A>G:p.Met661Val	coding	Benign
3	52347854	C	T	C52347854T	DNAH1	NM_015512.5(DNAH1):c.1986C>T:p.Asp662=	coding	Benign
3	52348985	G	A	G52348985A	DNAH1	NM_015512.5(DNAH1):c.2204G>A:p.Ser735Asn	coding	Benign
3	52349202	C	G	C52349202G	DNAH1	NM_015512.5(DNAH1):c.2308C>G:p.Gln770Glu	coding	Benign
3	52349231	G	T	G52349231T	DNAH1	NM_015512.5(DNAH1):c.2337G>T:p.Val779=	coding	Benign
3	52349324	C	T	C52349324T	DNAH1	NM_015512.5(DNAH1):c.2430C>T:p.Thr810=	coding	Benign
3	52350578	A	G	A52350578G	DNAH1	NM_015512.5(DNAH1):c.2717A>G:p.Asp906Gly	coding	Benign
3	52350585	T	C	T52350585C	DNAH1	NM_015512.5(DNAH1):c.2724T>C:p.Asn908=	coding	Benign
3	52351976	A	G	A52351976G	DNAH1	NM_015512.5(DNAH1):c.2744A>G:p.Asn915Ser	coding	Benign
3	52352060	T	C	T52352060C	DNAH1	NM_015512.5(DNAH1):c.2828T>C:p.Ile943Thr	coding	Benign
3	52352599	C	T	C52352599T	DNAH1	NM_015512.5(DNAH1):c.2919C>T:p.His973=	coding	Benign
3	52353165	G	A	G52353165A	DNAH1	NM_015512.5(DNAH1):c.3090G>A:p.Ala1030=	coding	Benign
3	52353186	G	A	G52353186A	DNAH1	NM_015512.5(DNAH1):c.3111G>A:p.Ser1037=	coding	Benign
3	52353276	C	T	C52353276T	DNAH1	NM_015512.5(DNAH1):c.3201C>T:p.Cys1067=	coding	Benign
3	52353613	A	C	A52353613C	DNAH1	NM_015512.5(DNAH1):c.3460A>C:p.Lys1154Gln	coding	Pathogenic
3	52356610	C	G	C52356610G	DNAH1	NM_015512.5(DNAH1):c.3694-4C>G	noncoding	Benign
3	52356756	A	G	A52356756G	DNAH1	NM_015512.5(DNAH1):c.3836A>G:p.Lys1279Arg	coding	Benign
3	52357615	T	G	T52357615G	DNAH1	NM_015512.5(DNAH1):c.3860T>G:p.Val1287Gly	coding	Pathogenic
3	52357719	A	C	A52357719C	DNAH1	NM_015512.5(DNAH1):c.3964A>C:p.Arg1322=	coding	Benign
3	52357997	C	T	C52357997T	DNAH1	NM_015512.5(DNAH1):c.4080C>T:p.Ile1360=	coding	Benign
3	52358734	C	T	C52358734T	DNAH1	NM_015512.5(DNAH1):c.4263C>T:p.Pro1421=	coding	Benign
3	52359332	G	A	G52359332A	DNAH1	NM_015512.5(DNAH1):c.4353G>A:p.Glu1451=	coding	Benign
3	52359344	C	T	C52359344T	DNAH1	NM_015512.5(DNAH1):c.4365C>T:p.Ala1455=	coding	Benign
3	52360012	G	A	G52360012A	DNAH1	NM_015512.5(DNAH1):c.4504G>A:p.Val1502Met	coding	Benign
3	52360039	G	A	G52360039A	DNAH1	NM_015512.5(DNAH1):c.4531G>A:p.Val1511Met	coding	Benign
3	52360327	A	G	A52360327G	DNAH1	NM_015512.5(DNAH1):c.4588A>G:p.Asn1530Asp	coding	Benign
3	52362394	C	T	C52362394T	DNAH1	NM_015512.5(DNAH1):c.4987C>T:p.Arg1663Cys	coding	Benign
3	52362504	A	T	A52362504T	DNAH1	NM_015512.5(DNAH1):c.5094+3A>T	noncoding	Benign
3	52363004	C	T	C52363004T	DNAH1	NM_015512.5(DNAH1):c.5104C>T:p.Arg1702Ter	coding	Pathogenic
3	52363082	A	T	A52363082T	DNAH1	NM_015512.5(DNAH1):c.5182A>T:p.Ser1728Cys	coding	Benign
3	52364681	C	T	C52364681T	DNAH1	NM_015512.5(DNAH1):c.5288C>T:p.Ser1763Leu	coding	Benign
3	52364691	G	A	G52364691A	DNAH1	NM_015512.5(DNAH1):c.5298G>A:p.Gly1766=	coding	Benign
3	52364835	G	A	G52364835A	DNAH1	NM_015512.5(DNAH1):c.5334G>A:p.Glu1778=	coding	Benign
3	52364919	C	T	C52364919T	DNAH1	NM_015512.5(DNAH1):c.5418C>T:p.Ser1806=	coding	Benign
3	52366724	G	A	G52366724A	DNAH1	NM_015512.5(DNAH1):c.5611-9G>A	noncoding	Benign
3	52366724	G	C	G52366724C	DNAH1	NM_015512.5(DNAH1):c.5611-9G>C	noncoding	Benign
3	52366791	G	T	G52366791T	DNAH1	NM_015512.5(DNAH1):c.5669G>T:p.Gly1890Val	coding	Benign
3	52366796	A	C	A52366796C	DNAH1	NM_015512.5(DNAH1):c.5674A>C:p.Met1892Leu	coding	Benign
3	52366812	A	G	A52366812G	DNAH1	NM_015512.5(DNAH1):c.5690A>G:p.Asn1897Ser	coding	Benign
3	52366819	C	T	C52366819T	DNAH1	NM_015512.5(DNAH1):c.5697C>T:p.Tyr1899=	coding	Benign
3	52366853	C	T	C52366853T	DNAH1	NM_015512.5(DNAH1):c.5731C>T:p.Leu1911=	coding	Benign
3	52368762	G	A	G52368762A	DNAH1	NM_015512.5(DNAH1):c.5787G>A:p.Ser1929=	coding	Benign
3	52368828	G	A	G52368828A	DNAH1	NM_015512.5(DNAH1):c.5853G>A:p.Val1951=	coding	Benign
3	52369869	A	C	A52369869C	DNAH1	NM_015512.5(DNAH1):c.5988A>C:p.Ser1996=	coding	Benign
3	52370095	G	A	G52370095A	DNAH1	NM_015512.5(DNAH1):c.6139-15G>A	noncoding	Benign
3	52370100	C	T	C52370100T	DNAH1	NM_015512.5(DNAH1):c.6139-10C>T	noncoding	Benign
3	52370162	A	G	A52370162G	DNAH1	NM_015512.5(DNAH1):c.6191A>G:p.Asn2064Ser	coding	Benign
3	52370175	C	T	C52370175T	DNAH1	NM_015512.5(DNAH1):c.6204C>T:p.Thr2068=	coding	Benign
3	52370629	C	T	C52370629T	DNAH1	NM_015512.5(DNAH1):c.6411C>T:p.Asn2137=	coding	Benign
3	52370735	A	G	A52370735G	DNAH1	NM_015512.5(DNAH1):c.6435A>G:p.Pro2145=	coding	Benign
3	52372379	G	A	G52372379A	DNAH1	NM_015512.5(DNAH1):c.6819G>A:p.Leu2273=	coding	Benign
3	52373025	C	T	C52373025T	DNAH1	NM_015512.5(DNAH1):c.6957C>T:p.His2319=	coding	Benign
3	52375274	C	T	C52375274T	DNAH1	NM_015512.5(DNAH1):c.7020C>T:p.Val2340=	coding	Benign
3	52375397	C	G	C52375397G	DNAH1	NM_015512.5(DNAH1):c.7143C>G:p.Ile2381Met	coding	Benign
3	52375405	A	G	A52375405G	DNAH1	NM_015512.5(DNAH1):c.7151A>G:p.Asn2384Ser	coding	Benign
3	52375992	G	C	G52375992C	DNAH1	NM_015512.5(DNAH1):c.7197G>C:p.Val2399=	coding	Benign
3	52378592	A	G	A52378592G	DNAH1	NM_015512.5(DNAH1):c.7199-10A>G	noncoding	Benign
3	52378778	G	A	G52378778A	DNAH1	NM_015512.5(DNAH1):c.7375G>A:p.Glu2459Lys	coding	Benign
3	52380096	C	T	C52380096T	DNAH1	NM_015512.5(DNAH1):c.7569C>T:p.Ser2523=	coding	Benign
3	52380099	T	C	T52380099C	DNAH1	NM_015512.5(DNAH1):c.7572T>C:p.Asp2524=	coding	Benign
3	52381825	C	T	C52381825T	DNAH1	NM_015512.5(DNAH1):c.7794C>T:p.Leu2598=	coding	Benign
3	52382362	C	T	C52382362T	DNAH1	NM_015512.5(DNAH1):c.7848C>T:p.Tyr2616=	coding	Benign
3	52383578	A	G	A52383578G	DNAH1	NM_015512.5(DNAH1):c.8134A>G:p.Met2712Val	coding	Benign
3	52383924	A	G	A52383924G	DNAH1	NM_015512.5(DNAH1):c.8215A>G:p.Ile2739Val	coding	Benign
3	52383975	G	A	G52383975A	DNAH1	NM_015512.5(DNAH1):c.8266G>A:p.Val2756Met	coding	Benign
3	52385360	A	G	A52385360G	DNAH1	NM_015512.5(DNAH1):c.8538A>G:p.Val2846=	coding	Benign
3	52386159	G	A	G52386159A	DNAH1	NM_015512.5(DNAH1):c.8626-1G>A	noncoding	Pathogenic
3	52386299	C	T	C52386299T	DNAH1	NM_015512.5(DNAH1):c.8765C>T:p.Ala2922Val	coding	Benign
3	52388284	C	T	C52388284T	DNAH1	NM_015512.5(DNAH1):c.9121C>T:p.Arg3041Cys	coding	Benign
3	52388586	C	T	C52388586T	DNAH1	NM_015512.5(DNAH1):c.9340C>T:p.Gln3114Ter	coding	Pathogenic
3	52389575	C	T	C52389575T	DNAH1	NM_015512.5(DNAH1):c.9610C>T:p.Arg3204Ter	coding	Pathogenic
3	52390937	C	T	C52390937T	DNAH1	NM_015512.5(DNAH1):c.9624C>T:p.Ile3208=	coding	Benign
3	52391220	C	T	C52391220T	DNAH1	NM_015512.5(DNAH1):c.9783C>T:p.Arg3261=	coding	Benign
3	52391244	C	T	C52391244T	DNAH1	NM_015512.5(DNAH1):c.9807C>T:p.Asn3269=	coding	Benign
3	52391486	C	T	C52391486T	DNAH1	NM_015512.5(DNAH1):c.9935C>T:p.Thr3312Met	coding	Benign
3	52392491	G	C	G52392491C	DNAH1	NM_015512.5(DNAH1):c.10080G>C:p.Gln3360His	coding	Benign
3	52392856	G	A	G52392856A	DNAH1	NM_015512.5(DNAH1):c.10305G>A:p.Thr3435=	coding	Benign
3	52392868	C	T	C52392868T	DNAH1	NM_015512.5(DNAH1):c.10317C>T:p.Ile3439=	coding	Benign
3	52392967	C	T	C52392967T	DNAH1	NM_015512.5(DNAH1):c.10416C>T:p.Tyr3472=	coding	Benign
3	52392973	T	C	T52392973C	DNAH1	NM_015512.5(DNAH1):c.10422T>C:p.Leu3474=	coding	Benign
3	52393441	C	T	C52393441T	DNAH1	NM_015512.5(DNAH1):c.10582C>T:p.Leu3528=	coding	Benign
3	52394474	C	T	C52394474T	DNAH1	NM_015512.5(DNAH1):c.10636C>T:p.Arg3546Ter	coding	Pathogenic
3	52394608	C	T	C52394608T	DNAH1	NM_015512.5(DNAH1):c.10770C>T:p.Phe3590=	coding	Benign
3	52394972	C	A	C52394972A	DNAH1	NM_015512.5(DNAH1):c.10881C>A:p.Val3627=	coding	Benign
3	52395382	A	G	A52395382G	DNAH1	NM_015512.5(DNAH1):c.11043A>G:p.Thr3681=	coding	Benign
3	52395394	C	T	C52395394T	DNAH1	NM_015512.5(DNAH1):c.11055C>T:p.Ala3685=	coding	Benign
3	52395555	G	A	G52395555A	DNAH1	NM_015512.5(DNAH1):c.11136G>A:p.Arg3712=	coding	Benign
3	52395649	C	T	C52395649T	DNAH1	NM_015512.5(DNAH1):c.11230C>T:p.Arg3744Cys	coding	Benign
3	52396510	G	A	G52396510A	DNAH1	NM_015512.5(DNAH1):c.11402G>A:p.Gly3801Asp	coding	Benign
3	52396681	C	T	C52396681T	DNAH1	NM_015512.5(DNAH1):c.11494C>T:p.Arg3832Cys	coding	Benign
3	52396682	G	A	G52396682A	DNAH1	NM_015512.5(DNAH1):c.11495G>A:p.Arg3832His	coding	Benign
3	52396975	G	A	G52396975A	DNAH1	NM_015512.5(DNAH1):c.11718G>A:p.Val3906=	coding	Benign
3	52397706	G	A	G52397706A	DNAH1	NM_015512.5(DNAH1):c.11788-1G>A	noncoding	Pathogenic
3	52398043	C	T	C52398043T	DNAH1	NM_015512.5(DNAH1):c.11970C>T:p.Asp3990=	coding	Benign
3	52398857	C	A	C52398857A	DNAH1	NM_015512.5(DNAH1):c.12097C>A:p.Arg4033=	coding	Benign
3	52399099	G	A	G52399099A	DNAH1	NM_015512.5(DNAH1):c.12339G>A:p.Trp4113Ter	coding	Pathogenic
3	52399135	A	T	A52399135T	DNAH1	NM_015512.5(DNAH1):c.12375A>T:p.Thr4125=	coding	Benign
3	52399729	A	G	A52399729G	DNAH1	NM_015512.5(DNAH1):c.12626A>G:p.Gln4209Arg	coding	Benign
3	52401124	C	G	C52401124G	BAP1	NM_004656.4(BAP1):c.*1164G>C	noncoding	Benign
3	52401314	G	A	G52401314A	BAP1	NM_004656.4(BAP1):c.*974C>T	noncoding	Benign
3	52401645	C	T	C52401645T	BAP1	NM_004656.4(BAP1):c.*643G>A	noncoding	Benign
3	52401715	C	T	C52401715T	BAP1	NM_004656.4(BAP1):c.*573G>A	noncoding	Benign
3	52401896	G	A	G52401896A	BAP1	NM_004656.4(BAP1):c.*392C>T	noncoding	Benign
3	52401903	T	A	T52401903A	BAP1	NM_004656.4(BAP1):c.*385A>T	noncoding	Benign
3	52401988	T	C	T52401988C	BAP1	NM_004656.4(BAP1):c.*300A>G	noncoding	Benign
3	52402243	G	C	G52402243C	BAP1	NM_004656.4(BAP1):c.*45C>G	noncoding	Benign
3	52402251	C	T	C52402251T	BAP1	NM_004656.4(BAP1):c.*37G>A	noncoding	Benign
3	52402423	T	C	T52402423C	BAP1	NM_004656.4(BAP1):c.2057-2A>G	noncoding	Pathogenic
3	52402425	C	A	C52402425A	BAP1	NM_004656.4(BAP1):c.2057-4G>T	noncoding	Benign/Likely_benign
3	52402608	G	A	G52402608A	BAP1	NM_004656.4(BAP1):c.2050C>T:p.Gln684Ter	coding	Pathogenic
3	52402665	G	A	G52402665A	BAP1	NM_004656.4(BAP1):c.1993C>T:p.Gln665Ter	coding	Pathogenic
3	52402787	T	A	T52402787A	BAP1	NM_004656.4(BAP1):c.1975A>T:p.Lys659Ter	coding	Pathogenic
3	52402800	T	G	T52402800G	BAP1	NM_004656.4(BAP1):c.1962A>C:p.Val654=	coding	Benign/Likely_benign
3	52402824	A	T	A52402824T	BAP1	NM_004656.4(BAP1):c.1938T>A:p.Tyr646Ter	coding	Pathogenic
3	52402872	C	T	C52402872T	BAP1	NM_004656.4(BAP1):c.1891-1G>A	coding	Pathogenic/Likely_pathogenic
3	52403190	G	A	G52403190A	BAP1	NM_004656.4(BAP1):c.1838C>T:p.Thr613Met	coding	Benign/Likely_benign
3	52403242	T	C	T52403242C	BAP1	NM_004656.4(BAP1):c.1786A>G:p.Ser596Gly	coding	Benign
3	52403251	G	A	G52403251A	BAP1	NM_004656.4(BAP1):c.1777C>T:p.Gln593Ter	coding	Pathogenic
3	52403415	C	T	C52403415T	BAP1	NM_004656.4(BAP1):c.1729+1G>A	noncoding	Pathogenic
3	52403416	C	A	C52403416A	BAP1	NM_004656.4(BAP1):c.1729G>T:p.Glu577Ter	coding	Pathogenic
3	52403732	A	C	A52403732C	BAP1	NM_004656.4(BAP1):c.1413T>G:p.Ala471=	coding	Benign
3	52403766	G	C	G52403766C	BAP1	NM_004656.4(BAP1):c.1379C>G:p.Ser460Ter	coding	Pathogenic
3	52403766	G	T	G52403766T	BAP1	NM_004656.4(BAP1):c.1379C>A:p.Ser460Ter	coding	Pathogenic
3	52403807	G	A	G52403807A	BAP1	NM_004656.4(BAP1):c.1338C>T:p.Asn446=	coding	Benign/Likely_benign
3	52403824	G	A	G52403824A	BAP1	NM_004656.4(BAP1):c.1321C>T:p.Gln441Ter	coding	Pathogenic
3	52403825	C	T	C52403825T	BAP1	NM_004656.4(BAP1):c.1320G>A:p.Leu440=	coding	Benign/Likely_benign
3	52403832	G	T	G52403832T	BAP1	NM_004656.4(BAP1):c.1313C>A:p.Ser438Ter	coding	Pathogenic
3	52403877	G	T	G52403877T	BAP1	NM_004656.4(BAP1):c.1268C>A:p.Thr423Lys	coding	Benign/Likely_benign
3	52403891	A	T	A52403891T	BAP1	NM_004656.4(BAP1):c.1254T>A:p.Tyr418Ter	coding	Pathogenic
3	52404411	C	T	C52404411T	BAP1	NM_004656.4(BAP1):c.1250+42G>A	noncoding	Benign
3	52404529	G	A	G52404529A	BAP1	NM_004656.4(BAP1):c.1174C>T:p.Gln392Ter	coding	Pathogenic
3	52404550	G	A	G52404550A	BAP1	NM_004656.4(BAP1):c.1153C>T:p.Arg385Ter	coding	Pathogenic
3	52405128	A	C	A52405128C	BAP1	NM_004656.4(BAP1):c.1098T>G:p.Tyr366Ter	coding	Pathogenic
3	52405163	G	A	G52405163A	BAP1	NM_004656.4(BAP1):c.1063C>T:p.Gln355Ter	coding	Pathogenic
3	52405200	G	A	G52405200A	BAP1	NM_004656.4(BAP1):c.1026C>T:p.Ser342=	coding	Benign/Likely_benign
3	52405224	T	C	T52405224C	BAP1	NM_004656.4(BAP1):c.1002A>G:p.Leu334=	coding	Benign/Likely_benign
3	52405266	G	A	G52405266A	BAP1	NM_004656.4(BAP1):c.960C>T:p.Cys320=	coding	Benign/Likely_benign
3	52405270	G	C	G52405270C	BAP1	NM_004656.4(BAP1):c.956C>G:p.Ser319Ter	coding	Pathogenic
3	52405784	G	T	G52405784T	BAP1	NM_004656.4(BAP1):c.912C>A:p.Ala304=	coding	Benign/Likely_benign
3	52405827	T	C	T52405827C	BAP1	NM_004656.4(BAP1):c.869A>G:p.Asn290Ser	coding	Benign/Likely_benign
3	52405891	C	A	C52405891A	BAP1	NM_004656.4(BAP1):c.805G>T:p.Glu269Ter	coding	Pathogenic
3	52405897	G	A	G52405897A	BAP1	NM_004656.4(BAP1):c.799C>T:p.Gln267Ter	coding	Pathogenic
3	52406253	C	T	C52406253T	BAP1	NM_004656.4(BAP1):c.783G>A:p.Gln261=	coding	Benign/Likely_benign
3	52406258	G	A	G52406258A	BAP1	NM_004656.4(BAP1):c.778C>T:p.Gln260Ter	coding	Pathogenic
3	52406279	G	A	G52406279A	BAP1	NM_004656.4(BAP1):c.757C>T:p.Gln253Ter	coding	Pathogenic
3	52406364	G	A	G52406364A	BAP1	NM_004656.4(BAP1):c.672C>T:p.His224=	coding	Benign/Likely_benign
3	52406837	G	A	G52406837A	BAP1	NM_004656.4(BAP1):c.651C>T:p.Ala217=	coding	Benign/Likely_benign
3	52406896	C	A	C52406896A	BAP1	NM_004656.4(BAP1):c.592G>T:p.Glu198Ter	coding	Pathogenic
3	52406901	C	T	C52406901T	BAP1	NM_004656.4(BAP1):c.587G>A:p.Trp196Ter	coding	Pathogenic
3	52407210	C	A	C52407210A	BAP1	NM_004656.4(BAP1):c.544G>T:p.Glu182Ter	coding	Pathogenic
3	52407220	G	A	G52407220A	BAP1	NM_004656.4(BAP1):c.534C>T:p.Gly178=	coding	Benign/Likely_benign
3	52407235	A	C	A52407235C	BAP1	NM_004656.4(BAP1):c.519T>G:p.Tyr173Ter	coding	Pathogenic
3	52407235	A	G	A52407235G	BAP1	NM_004656.4(BAP1):c.519T>C:p.Tyr173=	coding	Benign/Likely_benign
3	52407253	C	T	C52407253T	BAP1	NM_004656.4(BAP1):c.501G>A:p.Ala167=	coding	Benign/Likely_benign
3	52407291	T	A	T52407291A	BAP1	NM_004656.4(BAP1):c.463A>T:p.Lys155Ter	coding	Pathogenic
3	52407318	T	C	T52407318C	BAP1	NM_004656.4(BAP1):c.438-2A>G	noncoding	Pathogenic
3	52408039	G	A	G52408039A	BAP1	NM_004656.4(BAP1):c.294C>T:p.Ser98=	coding	Benign/Likely_benign
3	52408045	C	T	C52408045T	BAP1	NM_004656.4(BAP1):c.288G>A:p.Leu96=	coding	Benign
3	52408056	T	C	T52408056C	BAP1	NM_004656.4(BAP1):c.277A>G:p.Thr93Ala	coding	Pathogenic
3	52408548	T	A	T52408548A	BAP1	NM_004656.4(BAP1):c.181A>T:p.Lys61Ter	coding	Pathogenic
3	52408551	G	A	G52408551A	BAP1	NM_004656.4(BAP1):c.178C>T:p.Arg60Ter	coding	Pathogenic
3	52408574	C	T	C52408574T	BAP1	NM_004656.4(BAP1):c.155G>A:p.Trp52Ter	coding	Pathogenic
3	52408596	C	A	C52408596A	BAP1	NM_004656.4(BAP1):c.133G>T:p.Gly45Ter	coding	Pathogenic
3	52409553	C	T	C52409553T	BAP1	NM_004656.4(BAP1):c.122+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	52409558	G	A	G52409558A	BAP1	NM_004656.4(BAP1):c.118C>T:p.Gln40Ter	coding	Pathogenic
3	52409864	C	T	C52409864T	BAP1	NM_004656.4(BAP1):c.15G>A:p.Trp5Ter	coding	Pathogenic
3	52409877	A	G	A52409877G	BAP1	NM_004656.4(BAP1):c.2T>C:p.Met1Thr	coding	Pathogenic
3	52409888	G	A	G52409888A	BAP1	NM_004656.4(BAP1):c.-10C>T	noncoding	Benign
3	52422817	C	T	C52422817T	PHF7	NM_016483.7(PHF7):c.855C>T:p.Cys285=	coding	Benign
3	52422820	C	T	C52422820T	PHF7	NM_016483.7(PHF7):c.858C>T:p.Ser286=	coding	Benign
3	52423266	C	T	C52423266T	PHF7	NM_016483.7(PHF7):c.1095C>T:p.Ser365=	coding	Benign
3	52440464	A	G	A52440464G	SEMA3G	NM_020163.3(SEMA3G):c.1056T>C:p.Val352=	coding	Benign
3	52441580	A	G	A52441580G	SEMA3G	NM_020163.3(SEMA3G):c.661T>C:p.Leu221=	coding	Benign
3	52451320	G	T	G52451320T	TNNC1	NM_003280.3(TNNC1):c.455-14C>A	noncoding	Benign
3	52451521	A	G	A52451521G	TNNC1	NM_003280.3(TNNC1):c.324T>C:p.Ala108=	coding	Benign/Likely_benign
3	52451735	C	T	C52451735T	TNNC1	NM_003280.3(TNNC1):c.317+9G>A	noncoding	Benign/Likely_benign
3	52451810	C	T	C52451810T	TNNC1	NM_003280.3(TNNC1):c.251G>A:p.Cys84Tyr	coding	Pathogenic
3	52451854	G	A	G52451854A	TNNC1	NM_003280.3(TNNC1):c.207C>T:p.Ser69=	coding	Benign
3	52451863	G	A	G52451863A	TNNC1	NM_003280.3(TNNC1):c.203-5C>T	noncoding	Benign/Likely_benign
3	52452107	G	A	G52452107A	TNNC1	NM_003280.3(TNNC1):c.201C>T:p.Asp67=	coding	Benign/Likely_benign
3	52452217	C	A	C52452217A	TNNC1	NM_003280.3(TNNC1):c.91G>T:p.Ala31Ser	coding	Pathogenic
3	52452217	C	T	C52452217T	TNNC1	NM_003280.3(TNNC1):c.91G>A:p.Ala31Thr	coding	Pathogenic
3	52454186	C	T	C52454186T	TNNC1	NC_000003.12:g.52454186C>T	noncoding	Benign
3	52473778	G	A	G52473778A	NISCH	NM_007184.4(NISCH):c.714G>A:p.Ser238=	coding	Benign
3	52479825	A	G	A52479825G	NISCH	NM_007184.4(NISCH):c.1379A>G:p.Lys460Arg	coding	Benign
3	52480255	C	T	C52480255T	NISCH	NM_007184.4(NISCH):c.1488C>T:p.Pro496=	coding	Benign
3	52485779	C	T	C52485779T	NISCH	NM_007184.4(NISCH):c.1655C>T:p.Ala552Val	coding	Benign
3	52487364	T	C	T52487364C	NISCH	NM_007184.4(NISCH):c.1872T>C:p.Ala624=	coding	Benign
3	52488281	G	A	G52488281A	NISCH	NM_007184.4(NISCH):c.2789G>A:p.Arg930His	coding	Benign
3	52488575	C	T	C52488575T	NISCH	NM_007184.4(NISCH):c.3083C>T:p.Ala1028Val	coding	Benign
3	52490811	C	T	C52490811T	NISCH	NM_007184.4(NISCH):c.3720C>T:p.Phe1240=	coding	Benign
3	52502648	C	T	C52502648T	STAB1	NM_015136.3(STAB1):c.504C>T:p.His168=	coding	Benign
3	52505661	A	G	A52505661G	STAB1	NM_015136.3(STAB1):c.1582-7A>G	noncoding	Benign
3	52505772	C	T	C52505772T	STAB1	NM_015136.3(STAB1):c.1686C>T:p.Leu562=	coding	Benign
3	52506793	G	A	G52506793A	STAB1	NM_015136.3(STAB1):c.1932G>A:p.Pro644=	coding	Benign
3	52510139	C	T	C52510139T	STAB1	NM_015136.3(STAB1):c.2535-3C>T	noncoding	Benign
3	52512856	G	A	G52512856A	STAB1	NM_015136.3(STAB1):c.3056G>A:p.Arg1019His	coding	Benign
3	52513985	C	T	C52513985T	STAB1	NM_015136.3(STAB1):c.3447+4C>T	noncoding	Benign
3	52520230	G	A	G52520230A	STAB1	NM_015136.3(STAB1):c.5439G>A:p.Leu1813=	coding	Benign
3	52520926	C	T	C52520926T	STAB1	NM_015136.3(STAB1):c.5829C>T:p.Gly1943=	coding	Benign
3	52522168	C	G	C52522168G	STAB1	NM_015136.3(STAB1):c.6403C>G:p.Pro2135Ala	coding	Benign
3	52522483	C	T	C52522483T	STAB1	NM_015136.3(STAB1):c.6610+9C>T	noncoding	Benign
3	52522592	C	T	C52522592T	STAB1	NM_015136.3(STAB1):c.6648C>T:p.Ser2216=	coding	Benign
3	52609327	T	G	T52609327G	PBRM1	NM_018313.5(PBRM1):c.2553A>C:p.Ala851=	coding	Benign
3	52627335	G	A	G52627335A	PBRM1	NM_018313.5(PBRM1):c.1479C>T:p.Ile493=	coding	Benign
3	52668490	T	C	T52668490C	PBRM1	NM_018313.5(PBRM1):c.384+8A>G	noncoding	Benign
3	52785103	G	A	G52785103A	ITIH1	NM_002215.4(ITIH1):c.1467G>A:p.Gln489=	coding	Benign
3	52789848	A	T	A52789848T	ITIH1	NM_002215.4(ITIH1):c.2315A>T:p.Gln772Leu	coding	Benign
3	52796531	C	T	C52796531T	ITIH3	NM_002217.3(ITIH3):c.165C>T:p.Thr55=	coding	Benign
3	52797174	C	T	C52797174T	ITIH3	NM_002217.3(ITIH3):c.456C>T:p.Phe152=	coding	Benign
3	52799869	C	T	C52799869T	ITIH3	NM_002217.3(ITIH3):c.1023C>T:p.Pro341=	coding	Benign
3	52802517	G	A	G52802517A	ITIH3	NM_002217.3(ITIH3):c.1567G>A:p.Gly523Arg	coding	Benign
3	52807095	A	G	A52807095G	ITIH3	NM_002217.3(ITIH3):c.2251A>G:p.Thr751Ala	coding	Benign
3	52814021	C	T	C52814021T	ITIH4	NM_002218.5(ITIH4):c.2677G>A:p.Gly893Ser	coding	Benign
3	52818164	G	A	G52818164A	ITIH4	NM_002218.5(ITIH4):c.2184C>T:p.Pro728=	coding	Benign
3	52818171	G	A	G52818171A	ITIH4	NM_002218.5(ITIH4):c.2180-3C>T	noncoding	Benign
3	52823967	C	T	C52823967T	ITIH4	NM_002218.5(ITIH4):c.1209G>A:p.Arg403=	coding	Benign
3	52824206	A	G	A52824206G	ITIH4	NM_002218.5(ITIH4):c.1155T>C:p.Asp385=	coding	Benign
3	52826860	G	A	G52826860A	ITIH4	NM_002218.5(ITIH4):c.450C>T:p.Leu150=	coding	Benign
3	52826947	G	A	G52826947A	ITIH4	NM_002218.5(ITIH4):c.363C>T:p.Thr121=	coding	Benign
3	52827097	C	T	C52827097T	ITIH4	NM_002218.5(ITIH4):c.352G>A:p.Val118Ile	coding	Benign
3	52920549	G	A	G52920549A	SFMBT1	NM_016329.4(SFMBT1):c.1360C>T:p.Arg454Cys	coding	Benign
3	52928240	G	A	G52928240A	SFMBT1	NM_016329.4(SFMBT1):c.999C>T:p.Phe333=	coding	Benign
3	52928298	C	A	C52928298A	SFMBT1	NM_016329.4(SFMBT1):c.941G>T:p.Arg314Leu	coding	Benign
3	52930407	A	G	A52930407G	SFMBT1	NM_016329.4(SFMBT1):c.819T>C:p.His273=	coding	Benign
3	52932300	A	G	A52932300G	SFMBT1	NM_016329.4(SFMBT1):c.462T>C:p.Asn154=	coding	Benign
3	53089248	A	G	A53089248G	RFT1	NM_052859.4(RFT1):c.*2655T>C	noncoding	Benign
3	53089257	A	G	A53089257G	RFT1	NM_052859.4(RFT1):c.*2646T>C	noncoding	Benign
3	53089470	G	A	G53089470A	RFT1	NM_052859.4(RFT1):c.*2433C>T	noncoding	Benign
3	53089928	G	A	G53089928A	RFT1	NM_052859.4(RFT1):c.*1975C>T	noncoding	Benign
3	53090099	G	A	G53090099A	RFT1	NM_052859.4(RFT1):c.*1804C>T	noncoding	Benign
3	53090100	A	T	A53090100T	RFT1	NM_052859.4(RFT1):c.*1803T>A	noncoding	Benign
3	53090370	C	T	C53090370T	RFT1	NM_052859.4(RFT1):c.*1533G>A	noncoding	Benign
3	53090894	C	T	C53090894T	RFT1	NM_052859.4(RFT1):c.*1009G>A	noncoding	Benign
3	53091281	G	C	G53091281C	RFT1	NM_052859.4(RFT1):c.*622C>G	noncoding	Benign
3	53091413	A	T	A53091413T	RFT1	NM_052859.4(RFT1):c.*490T>A	noncoding	Benign
3	53091453	G	A	G53091453A	RFT1	NM_052859.4(RFT1):c.*450C>T	noncoding	Benign
3	53091569	T	C	T53091569C	RFT1	NM_052859.4(RFT1):c.*334A>G	noncoding	Benign
3	53091757	G	A	G53091757A	RFT1	NM_052859.4(RFT1):c.*146C>T	noncoding	Benign
3	53091906	T	C	T53091906C	RFT1	NM_052859.4(RFT1):c.1623A>G:p.Thr541=	coding	Benign
3	53092502	C	T	C53092502T	RFT1	NM_052859.4(RFT1):c.1325G>A:p.Arg442Gln	coding	Pathogenic
3	53092605	T	C	T53092605C	RFT1	NM_052859.4(RFT1):c.1222A>G:p.Met408Val	coding	Pathogenic
3	53105706	C	T	C53105706T	RFT1	NM_052859.4(RFT1):c.924G>A:p.Leu308=	coding	Benign/Likely_benign
3	53105738	C	T	C53105738T	RFT1	NM_052859.4(RFT1):c.892G>A:p.Glu298Lys	coding	Pathogenic
3	53105743	A	C	A53105743C	RFT1	NM_052859.4(RFT1):c.887T>G:p.Ile296Arg	coding	Pathogenic
3	53105743	A	T	A53105743T	RFT1	NM_052859.4(RFT1):c.887T>A:p.Ile296Lys	coding	Pathogenic
3	53111830	C	T	C53111830T	RFT1	NM_052859.4(RFT1):c.775G>A:p.Gly259Ser	coding	Pathogenic
3	53119948	G	A	G53119948A	RFT1	NM_052859.4(RFT1):c.632C>T:p.Thr211Ile	coding	Benign/Likely_benign
3	53121704	C	T	C53121704T	RFT1	NM_052859.4(RFT1):c.553G>A:p.Ala185Thr	coding	Benign
3	53121764	C	T	C53121764T	RFT1	NM_052859.4(RFT1):c.493G>A:p.Val165Ile	coding	Benign
3	53122376	T	C	T53122376C	RFT1	NM_052859.4(RFT1):c.454A>G:p.Lys152Glu	coding	Pathogenic
3	53122583	T	A	T53122583A	RFT1	NM_052859.4(RFT1):c.267-20A>T	noncoding	Benign
3	53123791	G	A	G53123791A	RFT1	NM_052859.4(RFT1):c.199C>T:p.Arg67Cys	coding	Pathogenic
3	53126008	G	A	G53126008A	RFT1	NM_052859.4(RFT1):c.64-14C>T	noncoding	Benign/Likely_benign
3	53179641	T	C	T53179641C	PRKCD	NM_006254.4(PRKCD):c.180T>C:p.Asp60=	coding	Benign
3	53179675	G	C	G53179675C	PRKCD	NM_006254.4(PRKCD):c.214G>C:p.Val72Leu	coding	Benign
3	53179785	C	A	C53179785A	PRKCD	NM_006254.4(PRKCD):c.315+9C>A	noncoding	Benign/Likely_benign
3	53181732	C	T	C53181732T	PRKCD	NM_006254.4(PRKCD):c.571C>T:p.Gln191Ter	coding	Pathogenic
3	53183152	C	T	C53183152T	PRKCD	NM_006254.4(PRKCD):c.603C>T:p.Ile201=	coding	Benign
3	53183535	C	T	C53183535T	PRKCD	NM_006254.4(PRKCD):c.741C>T:p.Cys247=	coding	Benign
3	53185627	A	G	A53185627G	PRKCD	NM_006254.4(PRKCD):c.912A>G:p.Ser304=	coding	Benign
3	53186199	G	A	G53186199A	PRKCD	NM_006254.4(PRKCD):c.1119G>A:p.Glu373=	coding	Benign
3	53186346	C	T	C53186346T	PRKCD	NM_006254.4(PRKCD):c.1260+6C>T	noncoding	Benign
3	53186642	G	A	G53186642A	PRKCD	NM_006254.4(PRKCD):c.1299G>A:p.Gly433=	coding	Benign
3	53186696	G	A	G53186696A	PRKCD	NM_006254.4(PRKCD):c.1352+1G>A	coding	Pathogenic
3	53188745	C	T	C53188745T	PRKCD	NM_006254.4(PRKCD):c.1441C>T:p.Leu481=	coding	Benign
3	53188832	G	A	G53188832A	PRKCD	NM_006254.4(PRKCD):c.1528G>A:p.Gly510Ser	coding	Pathogenic
3	53188866	G	A	G53188866A	PRKCD	NM_006254.4(PRKCD):c.1554+8G>A	noncoding	Benign
3	53189254	C	T	C53189254T	PRKCD	NM_006254.4(PRKCD):c.1743+8C>T	noncoding	Benign
3	53189911	C	G	C53189911G	PRKCD	NM_006254.4(PRKCD):c.1782C>G:p.Thr594=	coding	Benign
3	53189969	C	T	C53189969T	PRKCD	NM_006254.4(PRKCD):c.1840C>T:p.Arg614Trp	coding	Pathogenic
3	53189986	T	C	T53189986C	PRKCD	NM_006254.4(PRKCD):c.1857T>C:p.Pro619=	coding	Benign
3	53192161	G	A	G53192161A	PRKCD	NM_006254.4(PRKCD):c.1926G>A:p.Ala642=	coding	Benign
3	53225838	T	C	T53225838C	TKT	NM_001064.4(TKT):c.1790A>G:p.Lys597Arg	coding	Benign
3	53225846	T	C	T53225846C	TKT	NM_001064.4(TKT):c.1782A>G:p.Arg594=	coding	Benign
3	53229096	T	C	T53229096C	TKT	NM_001064.4(TKT):c.1306A>G:p.Met436Val	coding	Benign
3	53229317	G	A	G53229317A	TKT	NM_001064.4(TKT):c.1227C>T:p.Asn409=	coding	Benign
3	53229335	G	C	G53229335C	TKT	NM_001064.4(TKT):c.1209C>G:p.Ala403=	coding	Benign
3	53230612	G	A	G53230612A	TKT	NM_001064.4(TKT):c.952C>T:p.Arg318Cys	coding	Pathogenic
3	53233271	C	T	C53233271T	TKT	NM_001064.4(TKT):c.633G>A:p.Trp211Ter	coding	Pathogenic
3	53240295	G	A	G53240295A	TKT	NM_001064.4(TKT):c.393C>T:p.Ala131=	coding	Benign
3	53241129	T	G	T53241129G	TKT	NM_001064.4(TKT):c.339+3A>C	noncoding	Benign/Likely_benign
3	53292112	G	A	G53292112A	DCP1A	NM_018403.7(DCP1A):c.1340C>T:p.Ala447Val	coding	Benign
3	53497348	C	T	C53497348T	CACNA1D	NM_001128840.3(CACNA1D):c.264C>T:p.Tyr88=	coding	Benign
3	53651012	T	C	T53651012C	CACNA1D	NM_001128840.3(CACNA1D):c.623+94T>C	noncoding	Benign
3	53666346	A	G	A53666346G	CACNA1D	NM_001128840.3(CACNA1D):c.927A>G:p.Val309=	coding	Benign
3	53666373	G	A	G53666373A	CACNA1D	NM_001128840.3(CACNA1D):c.954G>A:p.Ala318=	coding	Benign/Likely_benign
3	53666523	T	C	T53666523C	CACNA1D	NM_001128840.3(CACNA1D):c.1104T>C:p.Asp368=	coding	Benign
3	53673723	C	T	C53673723T	CACNA1D	NM_001128840.3(CACNA1D):c.1220+597C>T	coding	Pathogenic
3	53673804	G	A	G53673804A	CACNA1D	NM_001128840.3(CACNA1D):c.1220+678G>A	coding	Pathogenic/Likely_pathogenic
3	53673826	C	T	C53673826T	CACNA1D	NM_001128840.3(CACNA1D):c.1220+700C>T	noncoding	Benign
3	53702770	G	A	G53702770A	CACNA1D	NM_001128840.3(CACNA1D):c.1350G>A:p.Pro450=	coding	Benign
3	53718317	C	T	C53718317T	CACNA1D	NM_001128840.3(CACNA1D):c.1407C>T:p.Ser469=	coding	Benign
3	53719702	G	A	G53719702A	CACNA1D	NM_001128840.3(CACNA1D):c.1479-53G>A	noncoding	Benign
3	53722455	T	C	T53722455C	CACNA1D	NM_001128840.3(CACNA1D):c.1647T>C:p.Asp549=	coding	Benign
3	53730470	C	G	C53730470G	CACNA1D	NM_001128840.3(CACNA1D):c.2250C>G:p.Ile750Met	coding	Pathogenic/Likely_pathogenic
3	53731999	T	C	T53731999C	CACNA1D	NM_001128840.3(CACNA1D):c.2407-17T>C	noncoding	Benign
3	53732893	T	G	T53732893G	CACNA1D	NM_001128840.3(CACNA1D):c.2552T>G:p.Leu851Trp	coding	Benign/Likely_benign
3	53735452	C	T	C53735452T	CACNA1D	NM_001128840.3(CACNA1D):c.2700C>T:p.Ser900=	coding	Benign
3	53743052	C	T	C53743052T	CACNA1D	NM_001128840.3(CACNA1D):c.2853C>T:p.Cys951=	coding	Benign/Likely_benign
3	53747296	C	G	C53747296G	CACNA1D	NM_001128840.3(CACNA1D):c.3168-6C>G	noncoding	Benign/Likely_benign
3	53747413	G	A	G53747413A	CACNA1D	NM_001128840.3(CACNA1D):c.3279G>A:p.Ala1093=	coding	Benign/Likely_benign
3	53749314	A	G	A53749314G	CACNA1D	NM_001128840.3(CACNA1D):c.3361A>G:p.Ile1121Val	coding	Benign
3	53753566	C	T	C53753566T	CACNA1D	NM_001128840.3(CACNA1D):c.3676-6C>T	noncoding	Benign
3	53762094	C	G	C53762094G	CACNA1D	NM_001128840.3(CACNA1D):c.3870+13C>G	noncoding	Benign
3	53769994	C	T	C53769994T	CACNA1D	NM_001128840.3(CACNA1D):c.3892C>T:p.Pro1298Ser	coding	Benign/Likely_benign
3	53770462	C	T	C53770462T	CACNA1D	NM_001128840.3(CACNA1D):c.3954C>T:p.Phe1318=	coding	Benign
3	53780124	C	T	C53780124T	CACNA1D	NM_001128840.3(CACNA1D):c.4686C>T:p.Thr1562=	coding	Benign/Likely_benign
3	53801272	C	T	C53801272T	CACNA1D	NM_001128840.3(CACNA1D):c.5255C>T:p.Thr1752Ile	coding	Benign
3	53801300	C	T	C53801300T	CACNA1D	NM_001128840.3(CACNA1D):c.5283C>T:p.Ala1761=	coding	Benign
3	53803592	G	T	G53803592T	CACNA1D	NM_001128840.3(CACNA1D):c.5585+20G>T	noncoding	Benign
3	53803635	C	T	C53803635T	CACNA1D	NM_001128840.3(CACNA1D):c.5585+63C>T	noncoding	Benign
3	53810157	G	A	G53810157A	CACNA1D	NM_001128840.3(CACNA1D):c.6051G>A:p.Pro2017=	coding	Benign
3	53810217	A	G	A53810217G	CACNA1D	NM_001128840.3(CACNA1D):c.6111A>G:p.Thr2037=	coding	Benign/Likely_benign
3	53811102	T	C	T53811102C	CACNA1D	NM_001128840.3(CACNA1D):c.6193-11T>C	noncoding	Benign
3	53811268	C	T	C53811268T	CACNA1D	NM_001128840.3(CACNA1D):c.6348C>T:p.Asn2116=	coding	Benign
3	53811313	G	A	G53811313A	CACNA1D	NM_001128840.3(CACNA1D):c.6393G>A:p.Gln2131=	coding	Benign
3	53811357	G	A	G53811357A	CACNA1D	NM_001128840.3(CACNA1D):c.6437G>A:p.Arg2146Lys	coding	Benign/Likely_benign
3	53811364	G	A	G53811364A	CACNA1D	NM_001128840.3(CACNA1D):c.6444G>A:p.Glu2148=	coding	Benign/Likely_benign
3	53822641	G	A	G53822641A	CHDH	NM_018397.5(CHDH):c.705C>T:p.Gly235=	coding	Benign
3	53822645	G	A	G53822645A	CHDH	NM_018397.5(CHDH):c.704-3C>T	noncoding	Benign
3	53823754	C	A	C53823754A	CHDH	NM_018397.5(CHDH):c.255G>T:p.Ser85=	coding	Benign
3	53823874	C	T	C53823874T	CHDH	NM_018397.5(CHDH):c.135G>A:p.Val45=	coding	Benign
3	53877758	A	C	A53877758C	ACTR8	NM_022899.5(ACTR8):c.406-7T>G	noncoding	Benign
3	54891399	C	T	C54891399T	CACNA2D3	NM_018398.3(CACNA2D3):c.2195C>T:p.Thr732Met	coding	Benign
3	54918617	C	T	C54918617T	LRTM1	NM_020678.4(LRTM1):c.880G>A:p.Val294Ile	coding	Benign
3	54918700	C	A	C54918700A	LRTM1	NM_020678.4(LRTM1):c.797G>T:p.Arg266Leu	coding	Benign
3	54918704	C	G	C54918704G	LRTM1	NM_020678.4(LRTM1):c.793G>C:p.Glu265Gln	coding	Benign
3	54924736	G	A	G54924736A	LRTM1	NM_020678.4(LRTM1):c.487C>T:p.Arg163Ter	coding	Benign
3	55074140	G	A	G55074140A	CACNA2D3	NM_018398.3(CACNA2D3):c.3210G>A:p.Ala1070=	coding	Benign
3	55470385	A	G	A55470385G	WNT5A	NM_003392.4(WNT5A):c.850T>C:p.Leu284=	coding	Benign
3	55470413	C	T	C55470413T	WNT5A	NM_003392.4(WNT5A):c.822G>A:p.Ala274=	coding	Benign
3	55470428	C	T	C55470428T	WNT5A	NM_003392.4(WNT5A):c.807G>A:p.Lys269=	coding	Benign
3	55474433	G	A	G55474433A	WNT5A	NM_003392.4(WNT5A):c.588C>T:p.Phe196=	coding	Benign
3	55474476	C	G	C55474476G	WNT5A	NM_003392.4(WNT5A):c.545G>C:p.Cys182Ser	coding	Pathogenic
3	55474477	A	G	A55474477G	WNT5A	NM_003392.4(WNT5A):c.544T>C:p.Cys182Arg	coding	Pathogenic
3	55474519	C	T	C55474519T	WNT5A	NM_003392.4(WNT5A):c.502G>A:p.Ala168Thr	coding	Benign
3	55474616	C	A	C55474616A	WNT5A	NM_003392.4(WNT5A):c.405G>T:p.Thr135=	coding	Benign
3	55479448	T	C	T55479448C	WNT5A	NM_003392.4(WNT5A):c.257A>G:p.Tyr86Cys	coding	Pathogenic
3	55479457	C	G	C55479457G	WNT5A	NM_003392.4(WNT5A):c.248G>C:p.Cys83Ser	coding	Pathogenic
3	55480815	G	C	G55480815C	WNT5A	NM_003392.4(WNT5A):c.110C>G:p.Ala37Gly	coding	Benign
3	55480911	A	G	A55480911G	WNT5A	NM_003392.4(WNT5A):c.14T>C:p.Ile5Thr	coding	Benign/Likely_benign
3	56633868	G	T	G56633868T	TASOR	NM_001112736.2(TASOR):c.2923C>A:p.Gln975Lys	coding	Benign
3	56673673	A	G	A56673673G	TASOR	NM_001112736.2(TASOR):c.384T>C:p.Asn128=	coding	Benign
3	57097779	C	G	C57097779G	IL17RD	NM_017563.5(IL17RD):c.1924G>C:p.Ala642Pro	coding	Benign
3	57097973	G	T	G57097973T	IL17RD	NM_017563.5(IL17RD):c.1730C>A:p.Pro577Gln	coding	Pathogenic
3	57098006	G	A	G57098006A	IL17RD	NM_017563.5(IL17RD):c.1697C>T:p.Pro566Leu	coding	Benign
3	57098047	A	G	A57098047G	IL17RD	NM_017563.5(IL17RD):c.1656T>C:p.Phe552=	coding	Benign
3	57098119	G	C	G57098119C	IL17RD	NM_017563.5(IL17RD):c.1584C>G:p.Gly528=	coding	Benign
3	57098158	G	A	G57098158A	IL17RD	NM_017563.5(IL17RD):c.1545C>T:p.Asp515=	coding	Benign
3	57098300	G	A	G57098300A	IL17RD	NM_017563.5(IL17RD):c.1403C>T:p.Ser468Leu	coding	Pathogenic
3	57098320	G	A	G57098320A	IL17RD	NM_017563.5(IL17RD):c.1383C>T:p.Leu461=	coding	Benign
3	57198276	C	T	C57198276T	HESX1	NM_003865.3(HESX1):c.479G>A:p.Arg160His	coding	Pathogenic
3	57198277	G	A	G57198277A	HESX1	NM_003865.3(HESX1):c.478C>T:p.Arg160Cys	coding	Pathogenic
3	57198405	C	T	C57198405T	HESX1	NM_003865.3(HESX1):c.445G>A:p.Glu149Lys	coding	Pathogenic
3	57198476	T	C	T57198476C	HESX1	NM_003865.3(HESX1):c.374A>G:p.Asn125Ser	coding	Benign/Likely_benign
3	57198751	A	G	A57198751G	HESX1	NM_003865.3(HESX1):c.357+2T>C	noncoding	Pathogenic
3	57198785	G	A	G57198785A	HESX1	NM_003865.3(HESX1):c.325C>T:p.Arg109Ter	coding	Pathogenic
3	57198797	A	C	A57198797C	HESX1	NM_003865.3(HESX1):c.313T>G:p.Trp105Gly	coding	Pathogenic
3	57199829	G	A	G57199829A	HESX1	NM_003865.3(HESX1):c.90C>T:p.Asp30=	coding	Benign/Likely_benign
3	57199842	A	G	A57199842G	HESX1	NM_003865.3(HESX1):c.77T>C:p.Ile26Thr	coding	Pathogenic
3	57199901	C	G	C57199901G	HESX1	NM_003865.3(HESX1):c.18G>C:p.Gln6His	coding	Pathogenic
3	57238050	T	C	T57238050C	APPL1	NM_012096.3(APPL1):c.219T>C:p.Phe73=	coding	Benign
3	57238087	T	C	T57238087C	APPL1	NM_012096.3(APPL1):c.256T>C:p.Leu86=	coding	Benign
3	57238111	G	A	G57238111A	APPL1	NM_012096.3(APPL1):c.280G>A:p.Asp94Asn	coding	Pathogenic
3	57249498	C	G	C57249498G	APPL1	NM_012096.3(APPL1):c.1002C>G:p.Asp334Glu	coding	Benign
3	57257010	A	G	A57257010G	APPL1	NM_012096.3(APPL1):c.1206A>G:p.Pro402=	coding	Benign
3	57260016	T	A	T57260016A	APPL1	NM_012096.3(APPL1):c.1655T>A:p.Leu552Ter	coding	Pathogenic
3	57301848	C	T	C57301848T	DNAH12	NM_001366028.2(DNAH12):c.11281G>A:p.Gly3761Ser	coding	Benign
3	57352120	C	G	C57352120G	DNAH12	NM_001366028.2(DNAH12):c.9639G>C:p.Leu3213=	coding	Benign
3	57428344	G	A	G57428344A	DNAH12	NM_001366028.2(DNAH12):c.5253+289C>T	coding	Benign
3	57428370	T	A	T57428370A	DNAH12	NM_001366028.2(DNAH12):c.5253+263A>T	coding	Benign
3	57428707	A	G	A57428707G	DNAH12	NM_001366028.2(DNAH12):c.5179T>C:p.Tyr1727His	coding	Benign
3	57433770	C	T	C57433770T	DNAH12	NM_001366028.2(DNAH12):c.4714G>A:p.Asp1572Asn	coding	Benign
3	57445261	G	A	G57445261A	DNAH12	NM_001366028.2(DNAH12):c.4338C>T:p.Tyr1446=	coding	Benign
3	57446258	G	A	G57446258A	DNAH12	NM_001366028.2(DNAH12):c.3952C>T:p.Leu1318=	coding	Benign
3	57458090	T	C	T57458090C	DNAH12	NM_001366028.2(DNAH12):c.3053+9A>G	noncoding	Benign
3	57470644	T	C	T57470644C	DNAH12	NM_001366028.2(DNAH12):c.1912-8A>G	noncoding	Benign
3	57483370	C	T	C57483370T	DNAH12	NM_001366028.2(DNAH12):c.1650+6G>A	noncoding	Benign
3	57489624	T	G	T57489624G	DNAH12	NM_001366028.2(DNAH12):c.1399A>C:p.Thr467Pro	coding	Benign
3	57508411	A	C	A57508411C	DNAH12	NM_198564.3(DNAH12):c.672T>G:p.Asp224Glu	coding	Benign
3	57831481	C	T	C57831481T	SLMAP	NM_007159.4(SLMAP):c.297C>T:p.Ser99=	coding	Benign
3	57849792	A	G	A57849792G	SLMAP	NM_007159.4(SLMAP):c.495A>G:p.Leu165=	coding	Benign
3	57860850	C	A	C57860850A	SLMAP	NM_007159.4(SLMAP):c.828+11C>A	noncoding	Benign
3	57871712	A	G	A57871712G	SLMAP	NM_007159.4(SLMAP):c.1198+14A>G	noncoding	Benign
3	57890057	A	G	A57890057G	SLMAP	NM_007159.4(SLMAP):c.1215A>G:p.Glu405=	coding	Benign
3	57896874	C	T	C57896874T	SLMAP	NM_007159.4(SLMAP):c.1341C>T:p.Asp447=	coding	Benign
3	57912604	T	C	T57912604C	SLMAP	NM_007159.4(SLMAP):c.1821T>C:p.Ser607=	coding	Benign
3	57912649	T	A	T57912649A	SLMAP	NM_007159.4(SLMAP):c.1866T>A:p.Leu622=	coding	Benign
3	57913192	A	G	A57913192G	SLMAP	NM_007159.4(SLMAP):c.1953A>G:p.Ala651=	coding	Benign
3	57913201	C	T	C57913201T	SLMAP	NM_007159.4(SLMAP):c.1962C>T:p.Thr654=	coding	Benign
3	57916912	G	A	G57916912A	SLMAP	NM_007159.4(SLMAP):c.2043G>A:p.Gln681=	coding	Benign
3	58008534	C	T	C58008534T	FLNB	NM_001457.4(FLNB):c.-31C>T	noncoding	Benign
3	58008813	G	A	G58008813A	FLNB	NM_001457.4(FLNB):c.249G>A:p.Ala83=	coding	Benign
3	58008864	C	A	C58008864A	FLNB	NM_001457.4(FLNB):c.292+8C>A	noncoding	Benign
3	58008992	T	A	T58008992A	FLNB	NM_001457.4(FLNB):c.292+136T>A	noncoding	Benign
3	58076783	G	A	G58076783A	FLNB	NM_001457.4(FLNB):c.293-263G>A	noncoding	Benign
3	58077115	A	T	A58077115T	FLNB	NM_001457.4(FLNB):c.362A>T:p.Tyr121Phe	coding	Benign/Likely_benign
3	58077195	T	A	T58077195A	FLNB	NM_001457.4(FLNB):c.442T>A:p.Trp148Arg	coding	Pathogenic
3	58077235	T	G	T58077235G	FLNB	NM_001457.4(FLNB):c.482T>G:p.Phe161Cys	coding	Pathogenic
3	58077255	G	A	G58077255A	FLNB	NM_001457.4(FLNB):c.502G>A:p.Gly168Ser	coding	Pathogenic
3	58077265	T	A	T58077265A	FLNB	NM_001457.4(FLNB):c.512T>A:p.Leu171Gln	coding	Pathogenic
3	58077265	T	G	T58077265G	FLNB	NM_001457.4(FLNB):c.512T>G:p.Leu171Arg	coding	Pathogenic
3	58077270	G	A	G58077270A	FLNB	NM_001457.4(FLNB):c.517G>A:p.Ala173Thr	coding	Pathogenic
3	58077271	C	T	C58077271T	FLNB	NM_001457.4(FLNB):c.518C>T:p.Ala173Val	coding	Pathogenic
3	58077576	G	C	G58077576C	FLNB	NM_001457.4(FLNB):c.541+282G>C	noncoding	Benign
3	58077582	G	C	G58077582C	FLNB	NM_001457.4(FLNB):c.541+288G>C	noncoding	Benign
3	58077604	C	T	C58077604T	FLNB	NM_001457.4(FLNB):c.541+310C>T	noncoding	Benign
3	58078717	G	T	G58078717T	FLNB	NM_001457.4(FLNB):c.542G>T:p.Gly181Val	coding	Pathogenic
3	58078724	C	G	C58078724G	FLNB	NM_001457.4(FLNB):c.549C>G:p.Cys183Trp	coding	Pathogenic
3	58078777	C	T	C58078777T	FLNB	NM_001457.4(FLNB):c.602C>T:p.Ala201Val	coding	Pathogenic
3	58078779	A	G	A58078779G	FLNB	NM_001457.4(FLNB):c.604A>G:p.Met202Val	coding	Pathogenic
3	58078783	A	C	A58078783C	FLNB	NM_001457.4(FLNB):c.608A>C:p.Gln203Pro	coding	Pathogenic
3	58078804	G	T	G58078804T	FLNB	NM_001457.4(FLNB):c.629G>T:p.Gly210Val	coding	Pathogenic
3	58081658	G	A	G58081658A	FLNB	NM_001457.4(FLNB):c.669G>A:p.Pro223=	coding	Benign/Likely_benign
3	58081668	G	A	G58081668A	FLNB	NM_001457.4(FLNB):c.679G>A:p.Glu227Lys	coding	Pathogenic
3	58081689	C	G	C58081689G	FLNB	NM_001457.4(FLNB):c.700C>G:p.Leu234Val	coding	Pathogenic
3	58081692	T	C	T58081692C	FLNB	NM_001457.4(FLNB):c.703T>C:p.Ser235Pro	coding	Pathogenic
3	58081709	C	T	C58081709T	FLNB	NM_001457.4(FLNB):c.720C>T:p.Ala240=	coding	Benign
3	58082068	C	T	C58082068T	FLNB	NM_001457.4(FLNB):c.787+292C>T	noncoding	Benign
3	58094840	C	T	C58094840T	FLNB	NM_001457.4(FLNB):c.792C>T:p.Ile264=	coding	Benign
3	58095229	G	T	G58095229T	FLNB	NM_001457.4(FLNB):c.906+275G>T	noncoding	Benign
3	58096161	T	C	T58096161C	FLNB	NM_001457.4(FLNB):c.927T>C:p.Ser309=	coding	Benign
3	58097874	C	T	C58097874T	FLNB	NM_001457.4(FLNB):c.1044C>T:p.Asp348=	coding	Benign/Likely_benign
3	58097911	G	A	G58097911A	FLNB	NM_001457.4(FLNB):c.1081G>A:p.Gly361Ser	coding	Pathogenic
3	58097912	G	A	G58097912A	FLNB	NM_001457.4(FLNB):c.1082G>A:p.Gly361Asp	coding	Pathogenic
3	58097918	G	A	G58097918A	FLNB	NM_001457.4(FLNB):c.1088G>A:p.Gly363Glu	coding	Pathogenic
3	58097937	C	T	C58097937T	FLNB	NM_001457.4(FLNB):c.1107C>T:p.Asn369=	coding	Benign
3	58098841	C	T	C58098841T	FLNB	NM_001457.4(FLNB):c.1278C>T:p.His426=	coding	Benign/Likely_benign
3	58099068	A	G	A58099068G	FLNB	NM_001457.4(FLNB):c.1345+160A>G	noncoding	Benign
3	58099168	A	C	A58099168C	FLNB	NM_001457.4(FLNB):c.1345+260A>C	noncoding	Benign
3	58103789	A	G	A58103789G	FLNB	NM_001457.4(FLNB):c.1484-170A>G	noncoding	Benign
3	58104124	G	A	G58104124A	FLNB	NM_001457.4(FLNB):c.1610+39G>A	noncoding	Benign
3	58105076	G	A	G58105076A	FLNB	NM_001457.4(FLNB):c.1611-4G>A	noncoding	Benign
3	58105173	G	A	G58105173A	FLNB	NM_001457.4(FLNB):c.1704G>A:p.Ala568=	coding	Benign/Likely_benign
3	58105371	C	T	C58105371T	FLNB	NM_001457.4(FLNB):c.1747+155C>T	noncoding	Benign
3	58106619	A	G	A58106619G	FLNB	NM_001457.4(FLNB):c.1748-61A>G	noncoding	Benign
3	58106801	C	T	C58106801T	FLNB	NM_001457.4(FLNB):c.1869C>T:p.Asp623=	coding	Benign
3	58106851	C	T	C58106851T	FLNB	NM_001457.4(FLNB):c.1919C>T:p.Thr640Met	coding	Benign/Likely_benign
3	58108461	C	T	C58108461T	FLNB	NM_001457.4(FLNB):c.1945C>T:p.Arg649Ter	coding	Pathogenic
3	58110068	C	T	C58110068T	FLNB	NM_001457.4(FLNB):c.2382C>T:p.Asp794=	coding	Benign/Likely_benign
3	58110138	C	T	C58110138T	FLNB	NM_001457.4(FLNB):c.2452C>T:p.Arg818Ter	coding	Pathogenic
3	58111799	C	T	C58111799T	FLNB	NM_001457.4(FLNB):c.2493C>T:p.Pro831=	coding	Benign/Likely_benign
3	58111800	G	A	G58111800A	FLNB	NM_001457.4(FLNB):c.2494G>A:p.Ala832Thr	coding	Benign/Likely_benign
3	58111829	T	G	T58111829G	FLNB	NM_001457.4(FLNB):c.2523T>G:p.Pro841=	coding	Benign
3	58119150	G	A	G58119150A	FLNB	NM_001457.4(FLNB):c.2863+161G>A	noncoding	Benign
3	58121284	G	A	G58121284A	FLNB	NM_001457.4(FLNB):c.2907G>A:p.Arg969=	coding	Benign
3	58121308	G	A	G58121308A	FLNB	NM_001457.4(FLNB):c.2931G>A:p.Leu977=	coding	Benign/Likely_benign
3	58121455	C	T	C58121455T	FLNB	NM_001457.4(FLNB):c.3078C>T:p.Pro1026=	coding	Benign
3	58121467	C	T	C58121467T	FLNB	NM_001457.4(FLNB):c.3090C>T:p.Tyr1030=	coding	Benign/Likely_benign
3	58122788	T	C	T58122788C	FLNB	NM_001457.4(FLNB):c.3127-305T>C	noncoding	Benign
3	58122824	T	C	T58122824C	FLNB	NM_001457.4(FLNB):c.3127-269T>C	noncoding	Benign
3	58123129	G	A	G58123129A	FLNB	NM_001457.4(FLNB):c.3163G>A:p.Val1055Met	coding	Benign/Likely_benign
3	58123206	G	A	G58123206A	FLNB	NM_001457.4(FLNB):c.3240G>A:p.Pro1080=	coding	Benign/Likely_benign
3	58123230	C	T	C58123230T	FLNB	NM_001457.4(FLNB):c.3264C>T:p.Ser1088=	coding	Benign/Likely_benign
3	58123435	G	A	G58123435A	FLNB	NM_001457.4(FLNB):c.3469G>A:p.Asp1157Asn	coding	Benign
3	58123501	G	A	G58123501A	FLNB	NM_001457.4(FLNB):c.3535G>A:p.Glu1179Lys	coding	Benign
3	58124021	T	A	T58124021A	FLNB	NM_001457.4(FLNB):c.3725-311T>A	noncoding	Benign
3	58124045	A	G	A58124045G	FLNB	NM_001457.4(FLNB):c.3725-287A>G	noncoding	Benign
3	58124378	G	A	G58124378A	FLNB	NM_001457.4(FLNB):c.3771G>A:p.Pro1257=	coding	Benign/Likely_benign
3	58124392	G	C	G58124392C	FLNB	NM_001457.4(FLNB):c.3785G>C:p.Gly1262Ala	coding	Benign/Likely_benign
3	58124464	C	T	C58124464T	FLNB	NM_001457.4(FLNB):c.3857C>T:p.Ala1286Val	coding	Benign
3	58125612	C	T	C58125612T	FLNB	NM_001457.4(FLNB):c.3930C>T:p.Asp1310=	coding	Benign
3	58126034	G	A	G58126034A	FLNB	NM_001457.4(FLNB):c.4061+291G>A	noncoding	Benign
3	58126597	T	G	T58126597G	FLNB	NM_001457.4(FLNB):c.4062-5T>G	noncoding	Benign
3	58126713	A	G	A58126713G	FLNB	NM_001457.4(FLNB):c.4173A>G:p.Ala1391=	coding	Benign
3	58126761	C	T	C58126761T	FLNB	NM_001457.4(FLNB):c.4221C>T:p.Pro1407=	coding	Benign
3	58126770	A	G	A58126770G	FLNB	NM_001457.4(FLNB):c.4222+8A>G	noncoding	Benign/Likely_benign
3	58130589	A	G	A58130589G	FLNB	NM_001457.4(FLNB):c.4223-152A>G	noncoding	Benign
3	58130810	T	G	T58130810G	FLNB	NM_001457.4(FLNB):c.4292T>G:p.Leu1431Arg	coding	Pathogenic
3	58130880	G	A	G58130880A	FLNB	NM_001457.4(FLNB):c.4362G>A:p.Pro1454=	coding	Benign/Likely_benign
3	58130895	T	C	T58130895C	FLNB	NM_001457.4(FLNB):c.4377T>C:p.Val1459=	coding	Benign/Likely_benign
3	58130916	T	A	T58130916A	FLNB	NM_001457.4(FLNB):c.4390+8T>A	noncoding	Benign/Likely_benign
3	58131648	T	G	T58131648G	FLNB	NM_001457.4(FLNB):c.4390+740T>G	noncoding	Benign
3	58131937	G	A	G58131937A	FLNB	NM_001457.4(FLNB):c.4391-871G>A	coding	Benign
3	58132828	G	A	G58132828A	FLNB	NM_001457.4(FLNB):c.4411G>A:p.Val1471Met	coding	Benign
3	58133208	A	G	A58133208G	FLNB	NM_001457.4(FLNB):c.4514+277A>G	noncoding	Benign
3	58134783	G	A	G58134783A	FLNB	NM_001457.4(FLNB):c.4671+11G>A	noncoding	Benign/Likely_benign
3	58136063	G	A	G58136063A	FLNB	NM_001457.4(FLNB):c.4756G>A:p.Gly1586Arg	coding	Pathogenic
3	58136082	T	A	T58136082A	FLNB	NM_001457.4(FLNB):c.4775T>A:p.Val1592Asp	coding	Pathogenic
3	58136111	T	C	T58136111C	FLNB	NM_001457.4(FLNB):c.4804T>C:p.Ser1602Pro	coding	Pathogenic
3	58136115	C	T	C58136115T	FLNB	NM_001457.4(FLNB):c.4808C>T:p.Pro1603Leu	coding	Pathogenic
3	58136142	G	A	G58136142A	FLNB	NM_001457.4(FLNB):c.4835G>A:p.Gly1612Asp	coding	Pathogenic
3	58136433	T	C	T58136433C	FLNB	NM_001457.4(FLNB):c.4861+265T>C	noncoding	Benign
3	58138292	C	T	C58138292T	FLNB	NM_001457.4(FLNB):c.4872C>T:p.Ile1624=	coding	Benign/Likely_benign
3	58138347	G	T	G58138347T	FLNB	NM_001457.4(FLNB):c.4927G>T:p.Ala1643Ser	coding	Pathogenic
3	58138348	C	T	C58138348T	FLNB	NM_001457.4(FLNB):c.4928C>T:p.Ala1643Val	coding	Pathogenic
3	58138491	G	A	G58138491A	FLNB	NM_001457.4(FLNB):c.5071G>A:p.Gly1691Ser	coding	Pathogenic
3	58138511	C	T	C58138511T	FLNB	NM_001457.4(FLNB):c.5091C>T:p.Asn1697=	coding	Benign
3	58142100	C	T	C58142100T	FLNB	NM_001457.4(FLNB):c.5181+171C>T	noncoding	Benign
3	58143202	G	C	G58143202C	FLNB	NM_001457.4(FLNB):c.5285-271G>C	noncoding	Benign
3	58143723	A	G	A58143723G	FLNB	NM_001457.4(FLNB):c.5425+110A>G	noncoding	Benign
3	58145788	C	T	C58145788T	FLNB	NM_001457.4(FLNB):c.5426-133C>T	noncoding	Benign
3	58145911	G	A	G58145911A	FLNB	NM_001457.4(FLNB):c.5426-10G>A	noncoding	Benign
3	58145940	C	T	C58145940T	FLNB	NM_001457.4(FLNB):c.5445C>T:p.Tyr1815=	coding	Benign/Likely_benign
3	58145995	G	A	G58145995A	FLNB	NM_001457.4(FLNB):c.5500G>A:p.Gly1834Arg	coding	Pathogenic
3	58146043	G	T	G58146043T	FLNB	NM_001457.4(FLNB):c.5548G>T:p.Gly1850Ter	coding	Pathogenic
3	58146252	C	T	C58146252T	FLNB	NM_001457.4(FLNB):c.5554+203C>T	noncoding	Benign
3	58146911	G	A	G58146911A	FLNB	NM_001457.4(FLNB):c.5646G>A:p.Pro1882=	coding	Benign/Likely_benign
3	58147081	G	A	G58147081A	FLNB	NM_001457.4(FLNB):c.5728+88G>A	noncoding	Benign
3	58147082	C	T	C58147082T	FLNB	NM_001457.4(FLNB):c.5728+89C>T	noncoding	Benign
3	58148072	G	C	G58148072C	FLNB	NM_001457.4(FLNB):c.5729-134G>C	noncoding	Benign
3	58148246	C	T	C58148246T	FLNB	NM_001457.4(FLNB):c.5769C>T:p.Ala1923=	coding	Benign/Likely_benign
3	58148262	G	A	G58148262A	FLNB	NM_001457.4(FLNB):c.5785G>A:p.Asp1929Asn	coding	Benign/Likely_benign
3	58148372	A	G	A58148372G	FLNB	NM_001457.4(FLNB):c.5887+8A>G	noncoding	Benign/Likely_benign
3	58148771	C	T	C58148771T	FLNB	NM_001457.4(FLNB):c.6010C>T:p.Arg2004Ter	coding	Pathogenic
3	58148778	A	G	A58148778G	FLNB	NM_001457.4(FLNB):c.6017A>G:p.Lys2006Arg	coding	Benign/Likely_benign
3	58149989	C	T	C58149989T	FLNB	NM_001457.4(FLNB):c.6231C>T:p.Asp2077=	coding	Benign/Likely_benign
3	58150324	C	T	C58150324T	FLNB	NM_001457.4(FLNB):c.6367+97C>T	noncoding	Benign
3	58153423	G	A	G58153423A	FLNB	NM_001457.4(FLNB):c.6416G>A:p.Arg2139His	coding	Benign
3	58153445	G	A	G58153445A	FLNB	NM_001457.4(FLNB):c.6438G>A:p.Val2146=	coding	Benign
3	58153623	G	T	G58153623T	FLNB	NM_001457.4(FLNB):c.6616G>T:p.Gly2206Ter	coding	Pathogenic
3	58153649	T	C	T58153649C	FLNB	NM_001457.4(FLNB):c.6634+8T>C	noncoding	Benign
3	58154798	C	T	C58154798T	FLNB	NM_001457.4(FLNB):c.6642C>T:p.Phe2214=	coding	Benign/Likely_benign
3	58154836	C	G	C58154836G	FLNB	NM_001457.4(FLNB):c.6680C>G:p.Ser2227Cys	coding	Benign/Likely_benign
3	58154840	C	T	C58154840T	FLNB	NM_001457.4(FLNB):c.6684C>T:p.Ile2228=	coding	Benign/Likely_benign
3	58154897	G	A	G58154897A	FLNB	NM_001457.4(FLNB):c.6741G>A:p.Ser2247=	coding	Benign/Likely_benign
3	58155041	G	A	G58155041A	FLNB	NM_001457.4(FLNB):c.6772+113G>A	noncoding	Benign
3	58159536	G	A	G58159536A	FLNB	NM_001457.4(FLNB):c.6889-18G>A	noncoding	Benign
3	58159621	T	C	T58159621C	FLNB	NM_001457.4(FLNB):c.6956T>C:p.Ile2319Thr	coding	Benign/Likely_benign
3	58163161	T	G	T58163161G	FLNB	NM_001457.4(FLNB):c.7029T>G:p.Tyr2343Ter	coding	Pathogenic
3	58163231	G	A	G58163231A	FLNB	NM_001457.4(FLNB):c.7099G>A:p.Val2367Ile	coding	Benign/Likely_benign
3	58163315	G	A	G58163315A	FLNB	NM_001457.4(FLNB):c.7183G>A:p.Glu2395Lys	coding	Benign
3	58163350	C	G	C58163350G	FLNB	NM_001457.4(FLNB):c.7198+20C>G	noncoding	Benign/Likely_benign
3	58168450	G	A	G58168450A	FLNB	NM_001457.4(FLNB):c.7209G>A:p.Ser2403=	coding	Benign
3	58168600	C	T	C58168600T	FLNB	NM_001457.4(FLNB):c.7359C>T:p.Ser2453=	coding	Benign
3	58168863	C	G	C58168863G	FLNB	NM_001457.4(FLNB):c.7417+205C>G	noncoding	Benign
3	58168944	T	C	T58168944C	FLNB	NM_001457.4(FLNB):c.7417+286T>C	noncoding	Benign
3	58169503	C	G	C58169503G	FLNB	NM_001457.4(FLNB):c.7418-87C>G	noncoding	Benign
3	58170449	G	A	G58170449A	FLNB	NM_001457.4(FLNB):c.7622-126G>A	noncoding	Benign
3	58170621	C	T	C58170621T	FLNB	NM_001457.4(FLNB):c.7668C>T:p.Cys2556=	coding	Benign
3	58170962	C	T	C58170962T	FLNB	NM_001457.4(FLNB):c.*200C>T	noncoding	Benign
3	58171241	G	T	G58171241T	FLNB	NM_001457.4(FLNB):c.*479G>T	noncoding	Benign
3	58171343	C	T	C58171343T	FLNB	NM_001457.4(FLNB):c.*581C>T	noncoding	Benign
3	58171354	C	G	C58171354G	FLNB	NM_001457.4(FLNB):c.*592C>G	noncoding	Benign
3	58171419	T	C	T58171419C	FLNB	NM_001457.4(FLNB):c.*657T>C	noncoding	Benign
3	58171437	G	A	G58171437A	FLNB	NM_001457.4(FLNB):c.*675G>A	noncoding	Benign
3	58171792	G	C	G58171792C	FLNB	NM_001457.4(FLNB):c.*1030G>C	noncoding	Benign
3	58171884	T	C	T58171884C	FLNB	NM_001457.4(FLNB):c.*1122T>C	noncoding	Benign
3	58171979	G	A	G58171979A	FLNB	NM_001457.4(FLNB):c.*1217G>A	noncoding	Benign
3	58172132	G	A	G58172132A	FLNB	NM_001457.4(FLNB):c.*1370G>A	noncoding	Benign
3	58201000	C	T	C58201000T	DNASE1L3	NM_004944.4(DNASE1L3):c.543G>A:p.Ala181=	coding	Benign
3	58201042	C	T	C58201042T	DNASE1L3	NM_004944.4(DNASE1L3):c.501G>A:p.Glu167=	coding	Benign
3	58205547	C	G	C58205547G	DNASE1L3	NM_004944.4(DNASE1L3):c.244G>C:p.Gly82Arg	coding	Benign
3	58208237	G	A	G58208237A	DNASE1L3	NM_004944.4(DNASE1L3):c.211C>T:p.Leu71=	coding	Benign
3	58274820	C	T	C58274820T	ABHD6	NM_001320126.2(ABHD6):c.681+5C>T	noncoding	Benign
3	58316507	A	G	A58316507G	RPP14	NM_001098783.2(RPP14):c.163-8A>G	noncoding	Benign
3	58316983	G	A	G58316983A	RPP14	NM_001098783.2(RPP14):c.308G>A:p.Arg103Gln	coding	Benign
3	58391835	G	A	G58391835A	PXK	NM_017771.5(PXK):c.603G>A:p.Leu201=	coding	Benign
3	58410115	A	T	A58410115T	PXK	NM_017771.5(PXK):c.1421A>T:p.Asn474Ile	coding	Benign
3	58427678	T	C	T58427678C	PDHB	NM_000925.4(PDHB):c.*356A>G	noncoding	Benign
3	58427681	A	G	A58427681G	PDHB	NM_000925.4(PDHB):c.*353T>C	noncoding	Benign
3	58427738	G	C	G58427738C	PDHB	NM_000925.4(PDHB):c.*296C>G	noncoding	Benign
3	58427791	T	G	T58427791G	PDHB	NM_000925.4(PDHB):c.*243A>C	noncoding	Benign
3	58427935	G	A	G58427935A	PDHB	NM_000925.4(PDHB):c.*99C>T	noncoding	Benign
3	58427942	G	T	G58427942T	PDHB	NM_000925.4(PDHB):c.*92C>A	noncoding	Benign
3	58428084	G	A	G58428084A	PDHB	NM_000925.4(PDHB):c.1030C>T:p.Pro344Ser	coding	Pathogenic
3	58428158	T	A	T58428158A	PDHB	NM_000925.4(PDHB):c.956A>T:p.Asp319Val	coding	Pathogenic
3	58428325	C	G	C58428325G	PDHB	NM_000925.4(PDHB):c.935-146G>C	noncoding	Benign
3	58428491	A	G	A58428491G	PDHB	NM_000925.4(PDHB):c.916T>C:p.Cys306Arg	coding	Pathogenic
3	58429536	T	A	T58429536A	PDHB	NM_000925.4(PDHB):c.792+172A>T	noncoding	Benign
3	58430752	C	G	C58430752G	PDHB	NM_000925.4(PDHB):c.494G>C:p.Trp165Ser	coding	Pathogenic
3	58430808	C	T	C58430808T	PDHB	NM_000925.4(PDHB):c.438G>A:p.Gly146=	coding	Benign
3	58430811	T	C	T58430811C	PDHB	NM_000925.4(PDHB):c.435A>G:p.Arg145=	coding	Benign
3	58430820	T	C	T58430820C	PDHB	NM_000925.4(PDHB):c.426A>G:p.Ile142Met	coding	Pathogenic
3	58430851	T	C	T58430851C	PDHB	NM_000925.4(PDHB):c.395A>G:p.Tyr132Cys	coding	Pathogenic
3	58430932	C	T	C58430932T	PDHB	NM_000925.4(PDHB):c.314G>A:p.Arg105Gln	coding	Pathogenic
3	58430936	A	C	A58430936C	PDHB	NM_000925.4(PDHB):c.310T>G:p.Leu104Val	coding	Pathogenic
3	58431179	T	G	T58431179G	PDHB	NM_000925.4(PDHB):c.304-237A>C	noncoding	Benign
3	58431577	A	G	A58431577G	PDHB	NM_000925.4(PDHB):c.303+16T>C	noncoding	Benign
3	58431594	A	G	A58431594G	PDHB	NM_000925.4(PDHB):c.302T>C:p.Met101Thr	coding	Pathogenic
3	58431595	T	C	T58431595C	PDHB	NM_000925.4(PDHB):c.301A>G:p.Met101Val	coding	Pathogenic
3	58431608	A	G	A58431608G	PDHB	NM_000925.4(PDHB):c.288T>C:p.Ala96=	coding	Benign/Likely_benign
3	58431868	T	G	T58431868G	PDHB	NM_000925.4(PDHB):c.204+9A>C	noncoding	Benign/Likely_benign
3	58431883	T	C	T58431883C	PDHB	NM_000925.4(PDHB):c.198A>G:p.Ala66=	coding	Benign/Likely_benign
3	58431949	A	G	A58431949G	PDHB	NM_000925.4(PDHB):c.132T>C:p.Asp44=	coding	Benign/Likely_benign
3	58431975	G	A	G58431975A	PDHB	NM_000925.4(PDHB):c.106C>T:p.Arg36Cys	coding	Pathogenic
3	58432200	A	C	A58432200C	PDHB	NM_000925.4(PDHB):c.97-216T>G	noncoding	Benign
3	58432202	T	C	T58432202C	PDHB	NM_000925.4(PDHB):c.97-218A>G	noncoding	Benign
3	58433835	C	T	C58433835T	PDHB	NM_001173468.1(PDHB):c.-26G>A	noncoding	Benign
3	58524467	G	A	G58524467A	ACOX2	NM_003500.4(ACOX2):c.1485C>T:p.Cys495=	coding	Benign
3	58530591	G	A	G58530591A	ACOX2	NM_003500.4(ACOX2):c.867C>T:p.Asn289=	coding	Benign
3	58531357	A	G	A58531357G	ACOX2	NM_003500.4(ACOX2):c.713T>C:p.Ile238Thr	coding	Benign
3	58531723	G	A	G58531723A	ACOX2	NM_003500.4(ACOX2):c.673C>T:p.Arg225Trp	coding	Pathogenic
3	58534476	A	T	A58534476T	ACOX2	NM_003500.4(ACOX2):c.207T>A:p.Tyr69Ter	coding	Pathogenic
3	58535079	A	G	A58535079G	ACOX2	NM_003500.4(ACOX2):c.28T>C:p.Leu10=	coding	Benign
3	58569801	T	C	T58569801C	FAM107A	NM_001076778.3(FAM107A):c.60A>G:p.Glu20=	coding	Benign
3	58870245	G	A	G58870245A	CFAP20DC	NM_198463.4(CFAP20DC):c.405C>T:p.Ile135=	coding	Benign
3	58884595	C	T	C58884595T	CFAP20DC	NM_198463.4(CFAP20DC):c.290G>A:p.Arg97His	coding	Benign
3	60536957	C	A	C60536957A	FHIT	NM_002012.4(FHIT):c.6G>T:p.Ser2=	coding	Benign
3	61562327	C	T	C61562327T	PTPRG	NM_002841.4(PTPRG):c.40C>T:p.Leu14=	coding	Benign
3	61748966	G	A	G61748966A	PTPRG	NM_002841.4(PTPRG):c.174G>A:p.Pro58=	coding	Benign
3	62195079	T	C	T62195079C	PTPRG	NM_002841.4(PTPRG):c.1236T>C:p.His412=	coding	Benign
3	62273025	G	A	G62273025A	PTPRG	NM_002841.4(PTPRG):c.3262G>A:p.Val1088Ile	coding	Benign
3	62493639	A	G	A62493639G	CADPS	NM_003716.4(CADPS):c.2727+6T>C	noncoding	Benign
3	62557421	G	A	G62557421A	CADPS	NM_003716.4(CADPS):c.1737C>T:p.Tyr579=	coding	Benign
3	62585179	A	G	A62585179G	CADPS	NM_003716.4(CADPS):c.1577+6T>C	noncoding	Benign
3	62753720	G	A	G62753720A	CADPS	NM_003716.4(CADPS):c.609C>T:p.Ser203=	coding	Benign
3	63912809	T	G	T63912809G	ATXN7	NM_001177387.1(ATXN7):c.211T>G:p.Ser71Ala	coding	Benign
3	63982277	G	A	G63982277A	ATXN7	NM_001177387.1(ATXN7):c.844G>A:p.Val282Met	coding	Benign
3	64094254	C	T	C64094254T	PRICKLE2	NM_198859.4(PRICKLE2):c.*4797G>A	noncoding	Benign
3	64094318	C	T	C64094318T	PRICKLE2	NM_198859.4(PRICKLE2):c.*4733G>A	noncoding	Benign
3	64094813	G	A	G64094813A	PRICKLE2	NM_198859.4(PRICKLE2):c.*4238C>T	noncoding	Benign
3	64095560	T	C	T64095560C	PRICKLE2	NM_198859.4(PRICKLE2):c.*3491A>G	noncoding	Benign
3	64095718	A	G	A64095718G	PRICKLE2	NM_198859.4(PRICKLE2):c.*3333T>C	noncoding	Benign
3	64096160	G	A	G64096160A	PRICKLE2	NM_198859.4(PRICKLE2):c.*2891C>T	noncoding	Benign
3	64096254	T	A	T64096254A	PRICKLE2	NM_198859.4(PRICKLE2):c.*2797A>T	noncoding	Benign
3	64096279	T	C	T64096279C	PRICKLE2	NM_198859.4(PRICKLE2):c.*2772A>G	noncoding	Benign
3	64096327	G	T	G64096327T	PRICKLE2	NM_198859.4(PRICKLE2):c.*2724C>A	noncoding	Benign
3	64096484	T	A	T64096484A	PRICKLE2	NM_198859.4(PRICKLE2):c.*2567A>T	noncoding	Benign
3	64096604	C	T	C64096604T	PRICKLE2	NM_198859.4(PRICKLE2):c.*2447G>A	noncoding	Benign
3	64097288	C	T	C64097288T	PRICKLE2	NM_198859.4(PRICKLE2):c.*1763G>A	noncoding	Benign
3	64097446	A	C	A64097446C	PRICKLE2	NM_198859.4(PRICKLE2):c.*1605T>G	noncoding	Benign
3	64097462	C	T	C64097462T	PRICKLE2	NM_198859.4(PRICKLE2):c.*1589G>A	noncoding	Benign
3	64097741	G	A	G64097741A	PRICKLE2	NM_198859.4(PRICKLE2):c.*1310C>T	noncoding	Benign
3	64097774	G	C	G64097774C	PRICKLE2	NM_198859.4(PRICKLE2):c.*1277C>G	noncoding	Benign
3	64098007	G	A	G64098007A	PRICKLE2	NM_198859.4(PRICKLE2):c.*1044C>T	noncoding	Benign
3	64098356	T	G	T64098356G	PRICKLE2	NM_198859.4(PRICKLE2):c.*695A>C	noncoding	Benign
3	64099773	C	A	C64099773A	PRICKLE2	NM_198859.4(PRICKLE2):c.1813G>T:p.Val605Phe	coding	Pathogenic
3	64146939	C	T	C64146939T	PRICKLE2	NM_198859.4(PRICKLE2):c.1551G>A:p.Gln517=	coding	Benign
3	64146963	C	T	C64146963T	PRICKLE2	NM_198859.4(PRICKLE2):c.1527G>A:p.Glu509=	coding	Benign/Likely_benign
3	64147455	G	C	G64147455C	PRICKLE2	NM_198859.4(PRICKLE2):c.1035C>G:p.Gly345=	coding	Benign
3	64147506	G	A	G64147506A	PRICKLE2	NM_198859.4(PRICKLE2):c.984C>T:p.Asn328=	coding	Benign
3	64147674	A	G	A64147674G	PRICKLE2	NM_198859.4(PRICKLE2):c.816T>C:p.Asp272=	coding	Benign
3	64157183	C	T	C64157183T	PRICKLE2	NM_198859.4(PRICKLE2):c.579G>A:p.Pro193=	coding	Benign
3	64157318	G	A	G64157318A	PRICKLE2	NM_198859.4(PRICKLE2):c.444C>T:p.Arg148=	coding	Benign/Likely_benign
3	64157324	C	T	C64157324T	PRICKLE2	NM_198859.4(PRICKLE2):c.438G>A:p.Ala146=	coding	Benign/Likely_benign
3	64160069	A	G	A64160069G	PRICKLE2	NM_198859.4(PRICKLE2):c.267T>C:p.Tyr89=	coding	Benign
3	64160083	T	C	T64160083C	PRICKLE2	NM_198859.4(PRICKLE2):c.259-6A>G	noncoding	Benign
3	64163133	A	C	A64163133C	PRICKLE2	NM_198859.4(PRICKLE2):c.145-4T>G	noncoding	Benign
3	64198774	A	G	A64198774G	PRICKLE2	NM_198859.4(PRICKLE2):c.144+10T>C	coding	Benign
3	64198922	C	T	C64198922T	PRICKLE2	NM_198859.4(PRICKLE2):c.6G>A:p.Val2=	coding	Benign
3	64224937	C	T	C64224937T	PRICKLE2	NM_198859.4(PRICKLE2):c.-68G>A	noncoding	Benign
3	64225426	G	A	G64225426A	PRICKLE2	NM_198859.4(PRICKLE2):c.-557C>T	noncoding	Benign
3	64522219	T	C	T64522219C	ADAMTS9	NM_182920.2(ADAMTS9):c.5760A>G:p.Gly1920=	coding	Benign
3	64522237	T	C	T64522237C	ADAMTS9	NM_182920.2(ADAMTS9):c.5742A>G:p.Lys1914=	coding	Benign
3	64546890	G	A	G64546890A	ADAMTS9	NM_182920.2(ADAMTS9):c.4932C>T:p.Thr1644=	coding	Benign
3	64546902	G	A	G64546902A	ADAMTS9	NM_182920.2(ADAMTS9):c.4920C>T:p.Ser1640=	coding	Benign
3	64550972	C	T	C64550972T	ADAMTS9	NM_182920.2(ADAMTS9):c.4789G>A:p.Val1597Met	coding	Benign
3	64550973	G	A	G64550973A	ADAMTS9	NM_182920.2(ADAMTS9):c.4788C>T:p.Asp1596=	coding	Benign
3	64602181	G	A	G64602181A	ADAMTS9	NM_182920.2(ADAMTS9):c.3780C>T:p.Thr1260=	coding	Benign
3	64604338	G	A	G64604338A	ADAMTS9	NM_182920.2(ADAMTS9):c.3475-7C>T	noncoding	Benign
3	64613337	C	A	C64613337A	ADAMTS9	NM_182920.2(ADAMTS9):c.3354+8G>T	noncoding	Benign
3	64615408	G	A	G64615408A	ADAMTS9	NM_182920.2(ADAMTS9):c.3102C>T:p.Asp1034=	coding	Benign
3	64641911	C	A	C64641911A	ADAMTS9	NM_182920.2(ADAMTS9):c.1793G>T:p.Gly598Val	coding	Benign
3	64686610	G	A	G64686610A	ADAMTS9	NM_182920.2(ADAMTS9):c.474C>T:p.Thr158=	coding	Benign
3	64686825	C	A	C64686825A	ADAMTS9	NM_182920.2(ADAMTS9):c.259G>T:p.Ala87Ser	coding	Benign
3	64686858	T	C	T64686858C	ADAMTS9	NM_182920.2(ADAMTS9):c.226A>G:p.Ile76Val	coding	Benign
3	64687619	C	A	C64687619A	ADAMTS9	NM_182920.2(ADAMTS9):c.39G>T:p.Leu13=	coding	Benign
3	66220525	G	C	G66220525C	SLC25A26	NM_173471.3(SLC25A26):c.-353-217G>C	noncoding	Benign
3	66220535	C	T	C66220535T	SLC25A26	NM_173471.3(SLC25A26):c.-353-207C>T	noncoding	Benign
3	66220543	G	A	G66220543A	SLC25A26	NM_173471.3(SLC25A26):c.-353-199G>A	noncoding	Benign
3	66220743	T	A	T66220743A	SLC25A26	NM_173471.3(SLC25A26):c.-352T>A	noncoding	Benign
3	66220821	C	G	C66220821G	SLC25A26	NM_173471.3(SLC25A26):c.-274C>G	noncoding	Benign
3	66221128	G	A	G66221128A	SLC25A26	NM_173471.3(SLC25A26):c.33+1G>A	coding	Pathogenic
3	66221164	C	T	C66221164T	SLC25A26	NM_173471.3(SLC25A26):c.33+37C>T	noncoding	Benign
3	66221177	T	C	T66221177C	SLC25A26	NM_173471.3(SLC25A26):c.33+50T>C	noncoding	Benign
3	66236234	G	A	G66236234A	SLC25A26	NM_173471.3(SLC25A26):c.34-310G>A	noncoding	Benign
3	66236253	G	A	G66236253A	SLC25A26	NM_173471.3(SLC25A26):c.34-291G>A	noncoding	Benign
3	66236384	G	A	G66236384A	SLC25A26	NM_173471.3(SLC25A26):c.34-160G>A	noncoding	Benign
3	66236407	G	T	G66236407T	SLC25A26	NM_173471.3(SLC25A26):c.34-137G>T	noncoding	Benign
3	66236408	C	G	C66236408G	SLC25A26	NM_173471.3(SLC25A26):c.34-136C>G	noncoding	Benign
3	66236632	G	A	G66236632A	SLC25A26	NM_173471.3(SLC25A26):c.122G>A:p.Ser41Asn	coding	Benign
3	66236910	A	C	A66236910C	SLC25A26	NM_173471.3(SLC25A26):c.190+210A>C	noncoding	Benign
3	66236939	A	C	A66236939C	SLC25A26	NM_173471.3(SLC25A26):c.190+239A>C	noncoding	Benign
3	66243056	G	A	G66243056A	SLC25A26	NM_173471.3(SLC25A26):c.191-147G>A	noncoding	Benign
3	66243158	T	C	T66243158C	SLC25A26	NM_173471.3(SLC25A26):c.191-45T>C	noncoding	Benign
3	66243264	A	G	A66243264G	SLC25A26	NM_173471.3(SLC25A26):c.252A>G:p.Ser84=	coding	Benign
3	66243342	T	C	T66243342C	SLC25A26	NM_173471.3(SLC25A26):c.300+30T>C	noncoding	Benign
3	66243362	A	G	A66243362G	SLC25A26	NM_173471.3(SLC25A26):c.300+50A>G	noncoding	Benign
3	66243427	T	C	T66243427C	SLC25A26	NM_173471.3(SLC25A26):c.300+115T>C	noncoding	Benign
3	66261894	C	A	C66261894A	SLC25A26	NM_173471.3(SLC25A26):c.301-157C>A	noncoding	Benign
3	66262055	C	T	C66262055T	SLC25A26	NM_173471.3(SLC25A26):c.305C>T:p.Ala102Val	coding	Pathogenic
3	66263369	T	G	T66263369G	SLC25A26	NM_173471.3(SLC25A26):c.443T>G:p.Val148Gly	coding	Pathogenic
3	66263371	T	G	T66263371G	SLC25A26	NM_173471.3(SLC25A26):c.445T>G:p.Leu149Val	coding	Benign
3	66346421	G	A	G66346421A	SLC25A26	NM_173471.3(SLC25A26):c.498+13G>A	noncoding	Benign
3	66362627	A	G	A66362627G	SLC25A26	NM_173471.3(SLC25A26):c.499-233A>G	noncoding	Benign
3	66362687	G	T	G66362687T	SLC25A26	NM_173471.3(SLC25A26):c.499-173G>T	noncoding	Benign
3	66362706	T	A	T66362706A	SLC25A26	NM_173471.3(SLC25A26):c.499-154T>A	noncoding	Benign
3	66369298	C	G	C66369298G	SLC25A26	NM_173471.3(SLC25A26):c.569-180C>G	noncoding	Benign
3	66369459	T	C	T66369459C	SLC25A26	NM_173471.3(SLC25A26):c.569-19T>C	noncoding	Benign
3	66369505	C	T	C66369505T	SLC25A26	NM_173471.3(SLC25A26):c.596C>T:p.Pro199Leu	coding	Pathogenic
3	66369518	A	G	A66369518G	SLC25A26	NM_173471.3(SLC25A26):c.609A>G:p.Ala203=	coding	Benign
3	66369532	C	T	C66369532T	SLC25A26	NM_173471.3(SLC25A26):c.623C>T:p.Thr208Met	coding	Benign
3	66370223	C	T	C66370223T	SLC25A26	NM_173471.3(SLC25A26):c.634-306C>T	noncoding	Benign
3	66370723	T	C	T66370723C	SLC25A26	NM_173471.3(SLC25A26):c.707+121T>C	noncoding	Benign
3	66377461	A	G	A66377461G	SLC25A26	NM_173471.3(SLC25A26):c.708-229A>G	noncoding	Benign
3	66380387	T	G	T66380387G	LRIG1	NM_015541.2(LRIG1):c.3158A>C:p.Gln1053Pro	coding	Benign
3	66380680	G	A	G66380680A	LRIG1	NM_015541.2(LRIG1):c.2952C>T:p.Ala984=	coding	Benign
3	66382293	T	C	T66382293C	LRIG1	NM_015541.2(LRIG1):c.2597A>G:p.Asn866Ser	coding	Benign
3	66383252	A	G	A66383252G	LRIG1	NM_015541.2(LRIG1):c.2221T>C:p.Leu741=	coding	Benign
3	66383311	G	A	G66383311A	LRIG1	NM_015541.2(LRIG1):c.2162C>T:p.Pro721Leu	coding	Benign
3	66383999	G	C	G66383999C	LRIG1	NM_015541.2(LRIG1):c.2063C>G:p.Thr688Ser	coding	Benign
3	66384219	T	C	T66384219C	LRIG1	NM_015541.2(LRIG1):c.1843A>G:p.Met615Val	coding	Benign
3	66386156	G	A	G66386156A	LRIG1	NM_015541.2(LRIG1):c.1614C>T:p.Thr538=	coding	Benign
3	66394191	G	A	G66394191A	LRIG1	NM_015541.2(LRIG1):c.1317C>T:p.Ser439=	coding	Benign
3	66410216	G	A	G66410216A	LRIG1	NM_015541.2(LRIG1):c.848C>T:p.Thr283Met	coding	Benign
3	66500332	G	C	G66500332C	LRIG1	NM_015541.2(LRIG1):c.76C>G:p.Leu26Val	coding	Benign
3	66500338	G	C	G66500338C	LRIG1	NM_015541.2(LRIG1):c.70C>G:p.Leu24Val	coding	Benign
3	67360679	C	T	C67360679T	SUCLG2	NM_001177599.1(SUCLG2):c.1273G>A:p.Val425Ile	coding	Benign
3	67360742	A	G	A67360742G	SUCLG2	NM_001177599.1(SUCLG2):c.1210T>C:p.Tyr404His	coding	Benign
3	67400773	G	A	G67400773A	SUCLG2	NM_001177599.1(SUCLG2):c.1141C>T:p.Arg381Trp	coding	Benign
3	67495820	T	C	T67495820C	SUCLG2	NM_001177599.1(SUCLG2):c.1040A>G:p.Lys347Arg	coding	Benign
3	67518274	T	C	T67518274C	SUCLG2	NM_001177599.1(SUCLG2):c.633A>G:p.Leu211=	coding	Benign
3	67528200	C	T	C67528200T	SUCLG2	NM_001177599.1(SUCLG2):c.349G>A:p.Ala117Thr	coding	Benign
3	67529077	C	G	C67529077G	SUCLG2	NM_001177599.1(SUCLG2):c.326+10G>C	noncoding	Benign
3	67529111	T	C	T67529111C	SUCLG2	NM_001177599.1(SUCLG2):c.302A>G:p.Lys101Arg	coding	Benign/Likely_benign
3	67609616	G	A	G67609616A	SUCLG2	NM_001177599.1(SUCLG2):c.85-20C>T	noncoding	Benign
3	68733148	C	T	C68733148T	TAFA4	NM_182522.5(TAFA4):c.417G>A:p.Thr139=	coding	Benign
3	68978436	C	T	C68978436T	EOGT	NM_001278689.2(EOGT):c.1335-1G>A	coding	Pathogenic
3	68979697	G	A	G68979697A	EOGT	NM_001278689.2(EOGT):c.1305C>T:p.Phe435=	coding	Benign
3	68979765	G	A	G68979765A	EOGT	NM_001278689.2(EOGT):c.1237C>T:p.Leu413=	coding	Benign
3	68982812	T	C	T68982812C	EOGT	NM_001278689.2(EOGT):c.1213A>G:p.Arg405Gly	coding	Benign
3	68982855	T	C	T68982855C	EOGT	NM_001278689.2(EOGT):c.1170A>G:p.Lys390=	coding	Benign
3	68987467	C	T	C68987467T	EOGT	NM_001278689.2(EOGT):c.1130G>A:p.Arg377Gln	coding	Pathogenic
3	68998026	G	A	G68998026A	EOGT	NM_001278689.2(EOGT):c.816C>T:p.Ile272=	coding	Benign
3	68998059	G	A	G68998059A	EOGT	NM_001278689.2(EOGT):c.783C>T:p.His261=	coding	Benign/Likely_benign
3	69004378	C	G	C69004378G	EOGT	NM_001278689.2(EOGT):c.620G>C:p.Trp207Ser	coding	Pathogenic
3	69004435	T	A	T69004435A	EOGT	NM_001278689.2(EOGT):c.563A>T:p.Lys188Ile	coding	Benign/Likely_benign
3	69004436	T	A	T69004436A	EOGT	NM_001278689.2(EOGT):c.562A>T:p.Lys188Ter	coding	Benign/Likely_benign
3	69005190	T	C	T69005190C	EOGT	NM_001278689.2(EOGT):c.465A>G:p.Arg155=	coding	Benign
3	69007729	C	T	C69007729T	EOGT	NM_001278689.2(EOGT):c.404G>A:p.Cys135Tyr	coding	Pathogenic
3	69008427	C	A	C69008427A	EOGT	NM_001278689.2(EOGT):c.311+1G>T	noncoding	Pathogenic
3	69009632	C	T	C69009632T	EOGT	NM_001278689.2(EOGT):c.210+5G>A	noncoding	Benign
3	69009776	G	C	G69009776C	EOGT	NM_001278689.2(EOGT):c.71C>G:p.Pro24Arg	coding	Benign
3	69109099	G	A	G69109099A	LMOD3	NM_198271.4(LMOD3):c.1679C>T:p.Ala560Val	coding	Benign
3	69118700	G	T	G69118700T	LMOD3	NM_198271.4(LMOD3):c.1655C>A:p.Pro552His	coding	Benign
3	69118727	C	A	C69118727A	LMOD3	NM_198271.4(LMOD3):c.1628G>T:p.Arg543Leu	coding	Pathogenic
3	69118738	T	C	T69118738C	LMOD3	NM_198271.5(LMOD3):c.1617A>G:p.Leu539=	coding	Benign
3	69118862	C	T	C69118862T	LMOD3	NM_198271.4(LMOD3):c.1493G>A:p.Arg498Gln	coding	Benign
3	69119042	T	A	T69119042A	LMOD3	NM_198271.4(LMOD3):c.1313A>T:p.Lys438Met	coding	Benign
3	69119085	A	G	A69119085G	LMOD3	NM_198271.4(LMOD3):c.1270T>C:p.Leu424=	coding	Benign
3	69119098	C	G	C69119098G	LMOD3	NM_198271.4(LMOD3):c.1257G>C:p.Met419Ile	coding	Benign
3	69119129	T	C	T69119129C	LMOD3	NM_198271.4(LMOD3):c.1226A>G:p.Gln409Arg	coding	Benign
3	69119154	G	A	G69119154A	LMOD3	NM_198271.4(LMOD3):c.1201C>T:p.Arg401Ter	coding	Pathogenic
3	69119211	G	A	G69119211A	LMOD3	NM_198271.4(LMOD3):c.1144C>T:p.Pro382Ser	coding	Benign
3	69119286	C	A	C69119286A	LMOD3	NM_198271.4(LMOD3):c.1069G>T:p.Glu357Ter	coding	Pathogenic
3	69119477	C	T	C69119477T	LMOD3	NM_198271.4(LMOD3):c.878G>A:p.Gly293Asp	coding	Benign
3	69119518	C	T	C69119518T	LMOD3	NM_198271.5(LMOD3):c.837G>A:p.Lys279=	coding	Benign
3	69119596	A	G	A69119596G	LMOD3	NM_198271.4(LMOD3):c.759T>C:p.Pro253=	coding	Benign
3	69119713	C	T	C69119713T	LMOD3	NM_198271.4(LMOD3):c.642G>A:p.Ser214=	coding	Benign
3	69119929	T	C	T69119929C	LMOD3	NM_198271.4(LMOD3):c.426A>G:p.Glu142=	coding	Benign
3	69119929	T	G	T69119929G	LMOD3	NM_198271.4(LMOD3):c.426A>C:p.Glu142Asp	coding	Benign
3	69122134	G	T	G69122134T	LMOD3	NM_198271.4(LMOD3):c.253C>A:p.Leu85Met	coding	Benign/Likely_benign
3	69122135	C	T	C69122135T	LMOD3	NM_198271.4(LMOD3):c.252G>A:p.Met84Ile	coding	Benign/Likely_benign
3	69122139	C	T	C69122139T	LMOD3	NM_198271.4(LMOD3):c.248G>A:p.Arg83His	coding	Benign
3	69122252	G	A	G69122252A	LMOD3	NM_198271.4(LMOD3):c.135C>T:p.Asp45=	coding	Benign
3	69122255	A	G	A69122255G	LMOD3	NM_198271.4(LMOD3):c.132T>C:p.Pro44=	coding	Benign
3	69879359	G	A	G69879359A	MITF	NM_001354604.2(MITF):c.330G>A:p.Thr110=	coding	Benign
3	69879526	G	A	G69879526A	MITF	NM_001354604.2(MITF):c.354+143G>A	noncoding	Benign
3	69936687	G	A	G69936687A	MITF	NM_001354604.2(MITF):c.355-1135G>A	coding	Benign
3	69936709	C	T	C69936709T	MITF	NM_001354604.2(MITF):c.355-1113C>T	coding	Benign/Likely_benign
3	69936756	G	A	G69936756A	MITF	NM_001354604.2(MITF):c.355-1066G>A	coding	Pathogenic
3	69937628	A	C	A69937628C	MITF	NM_001354604.2(MITF):c.355-194A>C	noncoding	Benign
3	69937833	C	T	C69937833T	MITF	NM_001354604.2(MITF):c.366C>T:p.His122=	coding	Benign/Likely_benign
3	69937864	C	T	C69937864T	MITF	NM_001354604.2(MITF):c.397C>T:p.Gln133Ter	coding	Pathogenic
3	69938175	C	T	C69938175T	MITF	NM_001354604.2(MITF):c.582+126C>T	noncoding	Benign
3	69938556	C	T	C69938556T	MITF	NM_001354604.2(MITF):c.582+507C>T	coding	Benign
3	69939164	C	T	C69939164T	MITF	NM_001354604.2(MITF):c.649C>T:p.Arg217Ter	coding	Pathogenic/Likely_pathogenic
3	69941273	C	G	C69941273G	MITF	NM_001354604.2(MITF):c.704C>G:p.Ser235Ter	coding	Pathogenic
3	69949049	A	C	A69949049C	MITF	NM_001354604.2(MITF):c.763-2A>C	noncoding	Pathogenic
3	69949096	C	T	C69949096T	MITF	NM_001354604.2(MITF):c.808C>T:p.Leu270=	coding	Pathogenic
3	69949177	C	G	C69949177G	MITF	NM_001354604.2(MITF):c.880+9C>G	noncoding	Benign/Likely_benign
3	69951813	G	A	G69951813A	MITF	NM_001354604.2(MITF):c.882G>A:p.Ala294=	coding	Benign
3	69951870	G	C	G69951870C	MITF	NM_001354604.2(MITF):c.939G>C:p.Lys313Asn	coding	Pathogenic
3	69951878	A	G	A69951878G	MITF	NM_001354604.2(MITF):c.947A>G:p.His316Arg	coding	Pathogenic
3	69951882	C	G	C69951882G	MITF	NM_001354604.2(MITF):c.951C>G:p.Asn317Lys	coding	Pathogenic
3	69951884	T	C	T69951884C	MITF	NM_001354604.2(MITF):c.953T>C:p.Leu318Pro	coding	Pathogenic/Likely_pathogenic
3	69956454	G	A	G69956454A	MITF	NM_001354604.2(MITF):c.956-1G>A	noncoding	Pathogenic
3	69956460	C	T	C69956460T	MITF	NM_001354604.2(MITF):c.961C>T:p.Arg321Ter	coding	Pathogenic
3	69956469	A	G	A69956469G	MITF	NM_001354604.2(MITF):c.970A>G:p.Arg324Gly	coding	Pathogenic
3	69956496	G	T	G69956496T	MITF	NM_001354604.2(MITF):c.997G>T:p.Glu333Ter	coding	Pathogenic
3	69956521	C	G	C69956521G	MITF	NM_001354604.2(MITF):c.1022C>G:p.Ser341Ter	coding	Pathogenic
3	69956531	G	A	G69956531A	MITF	NM_001354604.2(MITF):c.1031+1G>A	coding	Pathogenic/Likely_pathogenic
3	69956544	C	T	C69956544T	MITF	NM_001354604.2(MITF):c.1031+14C>T	noncoding	Benign
3	69959284	G	A	G69959284A	MITF	NM_001354604.2(MITF):c.1043G>A:p.Trp348Ter	coding	Pathogenic
3	69959310	T	C	T69959310C	MITF	NM_001354604.2(MITF):c.1069T>C:p.Ser357Pro	coding	Pathogenic
3	69959325	C	T	C69959325T	MITF	NM_001354604.2(MITF):c.1084C>T:p.Arg362Ter	coding	Pathogenic/Likely_pathogenic
3	69959370	C	T	C69959370T	MITF	NM_001354604.2(MITF):c.1129C>T:p.Arg377Ter	coding	Pathogenic
3	69959637	G	T	G69959637T	MITF	NM_001354604.2(MITF):c.1179+217G>T	noncoding	Benign
3	69964836	T	C	T69964836C	MITF	NM_001354604.2(MITF):c.1180-11T>C	noncoding	Benign/Likely_benign
3	69964849	A	G	A69964849G	MITF	NM_001354604.2(MITF):c.1182A>G:p.Glu394=	coding	Benign/Likely_benign
3	69964880	T	C	T69964880C	MITF	NM_001354604.2(MITF):c.1213T>C:p.Ser405Pro	coding	Pathogenic
3	69964889	C	G	C69964889G	MITF	NM_001354604.2(MITF):c.1222C>G:p.Pro408Ala	coding	Benign/Likely_benign
3	69964897	G	A	G69964897A	MITF	NM_001354604.2(MITF):c.1230G>A:p.Thr410=	coding	Pathogenic
3	69964947	T	C	T69964947C	MITF	NM_001354604.2(MITF):c.1280T>C:p.Val427Ala	coding	Benign/Likely_benign
3	69965048	C	A	C69965048A	MITF	NM_001354604.2(MITF):c.1381C>A:p.Leu461Ile	coding	Benign
3	69965184	G	A	G69965184A	MITF	NM_001354604.2(MITF):c.1517G>A:p.Gly506Glu	coding	Benign
3	69965233	G	A	G69965233A	MITF	NM_001354604.2(MITF):c.1566G>A:p.Thr522=	coding	Benign
3	69965236	G	A	G69965236A	MITF	NM_001354604.2(MITF):c.1569G>A:p.Glu523=	coding	Benign
3	69965240	A	G	A69965240G	MITF	NM_001354604.2(MITF):c.1573A>G:p.Thr525Ala	coding	Benign/Likely_benign
3	69965260	T	C	T69965260C	MITF	NM_001354604.2(MITF):c.*12T>C	noncoding	Benign/Likely_benign
3	69965272	G	A	G69965272A	MITF	NM_001354604.2(MITF):c.*24G>A	noncoding	Benign
3	69965296	T	C	T69965296C	MITF	NM_001354604.2(MITF):c.*48T>C	noncoding	Benign
3	69965476	C	T	C69965476T	MITF	NM_001354604.2(MITF):c.*228C>T	noncoding	Benign
3	69965483	T	C	T69965483C	MITF	NM_001354604.2(MITF):c.*235T>C	noncoding	Benign
3	69965534	G	A	G69965534A	MITF	NM_001354604.2(MITF):c.*286G>A	noncoding	Benign
3	69965627	T	C	T69965627C	MITF	NM_001354604.2(MITF):c.*379T>C	noncoding	Benign
3	69965695	C	A	C69965695A	MITF	NM_001354604.2(MITF):c.*447C>A	noncoding	Benign
3	69966072	T	A	T69966072A	MITF	NM_001354604.2(MITF):c.*824T>A	noncoding	Benign
3	69966084	G	T	G69966084T	MITF	NM_001354604.2(MITF):c.*836G>T	noncoding	Benign
3	69966349	G	A	G69966349A	MITF	NM_001354604.2(MITF):c.*1101G>A	noncoding	Benign
3	69966398	T	C	T69966398C	MITF	NM_001354604.2(MITF):c.*1150T>C	noncoding	Benign
3	69966496	T	C	T69966496C	MITF	NM_001354604.2(MITF):c.*1248T>C	noncoding	Benign
3	69966518	G	A	G69966518A	MITF	NM_001354604.2(MITF):c.*1270G>A	noncoding	Benign
3	69966739	A	G	A69966739G	MITF	NM_001354604.2(MITF):c.*1491A>G	noncoding	Benign
3	69967189	A	G	A69967189G	MITF	NM_001354604.2(MITF):c.*1941A>G	noncoding	Benign/Likely_benign
3	69967277	A	T	A69967277T	MITF	NM_001354604.2(MITF):c.*2029A>T	noncoding	Benign
3	69967316	C	T	C69967316T	MITF	NM_001354604.2(MITF):c.*2068C>T	noncoding	Benign
3	69967418	A	G	A69967418G	MITF	NM_001354604.2(MITF):c.*2170A>G	noncoding	Benign
3	69967706	G	A	G69967706A	MITF	NM_001354604.2(MITF):c.*2458G>A	noncoding	Benign
3	69967753	C	T	C69967753T	MITF	NM_001354604.2(MITF):c.*2505C>T	noncoding	Benign
3	69967828	C	T	C69967828T	MITF	NM_001354604.2(MITF):c.*2580C>T	noncoding	Benign
3	69967921	T	G	T69967921G	MITF	NM_001354604.2(MITF):c.*2673T>G	noncoding	Benign
3	69968116	T	C	T69968116C	MITF	NM_001354604.2(MITF):c.*2868T>C	noncoding	Benign
3	69968172	C	T	C69968172T	MITF	NM_001354604.2(MITF):c.*2924C>T	noncoding	Benign
3	69968281	A	G	A69968281G	MITF	NM_001354604.2(MITF):c.*3033A>G	noncoding	Benign
3	70959396	A	G	A70959396G	FOXP1	NM_032682.5(FOXP1):c.1890-5T>C	noncoding	Benign
3	70965870	G	T	G70965870T	FOXP1	NM_032682.5(FOXP1):c.1889+20C>A	noncoding	Benign
3	70965889	C	A	C70965889A	FOXP1	NM_032682.5(FOXP1):c.1889+1G>T	noncoding	Pathogenic
3	70965954	C	T	C70965954T	FOXP1	NM_032682.6(FOXP1):c.1825G>A:p.Ala609Thr	coding	Benign/Likely_benign
3	70970749	T	C	T70970749C	FOXP1	NM_032682.6(FOXP1):c.1709A>G:p.Asn570Ser	coding	Benign/Likely_benign
3	70970756	G	A	G70970756A	FOXP1	NM_032682.6(FOXP1):c.1702C>T:p.Pro568Ser	coding	Benign/Likely_benign
3	70970806	C	T	C70970806T	FOXP1	NM_032682.5(FOXP1):c.1653-1G>A	coding	Pathogenic
3	70970807	T	A	T70970807A	FOXP1	NM_032682.5(FOXP1):c.1653-2A>T	noncoding	Pathogenic
3	70972577	G	A	G70972577A	FOXP1	NM_032682.6(FOXP1):c.1630C>T:p.Arg544Ter	coding	Pathogenic
3	70972583	G	A	G70972583A	FOXP1	NM_032682.6(FOXP1):c.1624C>T:p.Gln542Ter	coding	Pathogenic
3	70972607	A	G	A70972607G	FOXP1	NM_032682.6(FOXP1):c.1600T>C:p.Trp534Arg	coding	Pathogenic
3	70972634	G	A	G70972634A	FOXP1	NM_032682.6(FOXP1):c.1573C>T:p.Arg525Ter	coding	Pathogenic
3	70972666	C	T	C70972666T	FOXP1	NM_032682.6(FOXP1):c.1541G>A:p.Arg514His	coding	Pathogenic/Likely_pathogenic
3	70972667	G	A	G70972667A	FOXP1	NM_032682.6(FOXP1):c.1540C>T:p.Arg514Cys	coding	Pathogenic
3	70976964	G	A	G70976964A	FOXP1	NM_032682.6(FOXP1):c.1507C>T:p.Arg503Ter	coding	Pathogenic
3	70976982	G	A	G70976982A	FOXP1	NM_032682.6(FOXP1):c.1489C>T:p.Arg497Ter	coding	Pathogenic
3	70976995	A	T	A70976995T	FOXP1	NM_032682.6(FOXP1):c.1476T>A:p.Tyr492Ter	coding	Pathogenic
3	70977634	T	C	T70977634C	FOXP1	NM_032682.6(FOXP1):c.1428+9A>G	noncoding	Benign
3	70977658	T	C	T70977658C	FOXP1	NM_032682.6(FOXP1):c.1413A>G:p.Ala471=	coding	Benign
3	70977662	T	A	T70977662A	FOXP1	NM_001349338.3(FOXP1):c.1409A>T:p.Tyr470Phe	coding	Pathogenic
3	70977662	T	C	T70977662C	FOXP1	NM_032682.6(FOXP1):c.1409A>G:p.Tyr470Cys	coding	Pathogenic
3	70977677	C	G	C70977677G	FOXP1	NM_032682.6(FOXP1):c.1394G>C:p.Arg465Thr	coding	Pathogenic
3	70977678	T	C	T70977678C	FOXP1	NM_032682.6(FOXP1):c.1393A>G:p.Arg465Gly	coding	Pathogenic/Likely_pathogenic
3	70977721	T	A	T70977721A	FOXP1	NM_001349338.3(FOXP1):c.1350A>T:p.Ala450=	coding	Pathogenic
3	70977827	C	G	C70977827G	FOXP1	NM_032682.5(FOXP1):c.1348+1G>C	noncoding	Pathogenic
3	70977843	C	T	C70977843T	FOXP1	NM_032682.6(FOXP1):c.1333G>A:p.Val445Met	coding	Benign
3	70977847	G	C	G70977847C	FOXP1	NM_032682.6(FOXP1):c.1329C>G:p.Tyr443Ter	coding	Pathogenic
3	70977847	G	T	G70977847T	FOXP1	NM_032682.6(FOXP1):c.1329C>A:p.Tyr443Ter	coding	Pathogenic
3	70977857	G	C	G70977857C	FOXP1	NM_001349338.3(FOXP1):c.1319C>G:p.Ser440Ter	coding	Pathogenic
3	70977859	G	C	G70977859C	FOXP1	NM_032682.6(FOXP1):c.1317C>G:p.Tyr439Ter	coding	Pathogenic
3	70977859	G	T	G70977859T	FOXP1	NM_032682.6(FOXP1):c.1317C>A:p.Tyr439Ter	coding	Pathogenic
3	70977943	G	A	G70977943A	FOXP1	NM_032682.6(FOXP1):c.1233C>T:p.Thr411=	coding	Benign
3	70978048	C	T	C70978048T	FOXP1	NM_032682.5(FOXP1):c.1147-19G>A	noncoding	Benign
3	70987989	C	G	C70987989G	FOXP1	NM_032682.5(FOXP1):c.1146+5G>C	noncoding	Pathogenic
3	70987993	C	T	C70987993T	FOXP1	NM_032682.5(FOXP1):c.1146+1G>A	noncoding	Pathogenic
3	71001061	T	G	T71001061G	FOXP1	NM_032682.5(FOXP1):c.975-2A>C	noncoding	Pathogenic
3	71015654	C	G	C71015654G	FOXP1	NM_032682.6(FOXP1):c.870-1G>C	coding	Pathogenic
3	71041327	C	T	C71041327T	FOXP1	NM_001244808.2(FOXP1):c.869+1G>A	noncoding	Pathogenic
3	71046963	G	C	G71046963C	FOXP1	NM_032682.6(FOXP1):c.643C>G:p.Pro215Ala	coding	Benign/Likely_benign
3	71046984	G	A	G71046984A	FOXP1	NM_032682.6(FOXP1):c.622C>T:p.Gln208Ter	coding	Pathogenic
3	71047008	G	A	G71047008A	FOXP1	NM_032682.6(FOXP1):c.598C>T:p.Gln200Ter	coding	Pathogenic
3	71047032	G	A	G71047032A	FOXP1	NM_032682.6(FOXP1):c.574C>T:p.Gln192Ter	coding	Pathogenic
3	71047077	G	A	G71047077A	FOXP1	NM_032682.6(FOXP1):c.529C>T:p.Gln177Ter	coding	Pathogenic
3	71198259	C	T	C71198259T	FOXP1	NM_032682.6(FOXP1):c.123G>A:p.Thr41=	coding	Benign/Likely_benign
3	71198275	C	T	C71198275T	FOXP1	NM_032682.6(FOXP1):c.107G>A:p.Arg36Gln	coding	Benign
3	71772782	G	T	G71772782T	PROK2	NM_001126128.2(PROK2):c.332C>A:p.Pro111Gln	coding	Benign
3	71781190	T	C	T71781190C	PROK2	NM_001126128.2(PROK2):c.222+277A>G	noncoding	Benign
3	71781472	G	A	G71781472A	PROK2	NM_001126128.2(PROK2):c.217C>T:p.Arg73Cys	coding	Pathogenic
3	71781588	C	T	C71781588T	PROK2	NM_001126128.2(PROK2):c.101G>A:p.Cys34Tyr	coding	Pathogenic
3	71784959	C	G	C71784959G	PROK2	NM_001126128.2(PROK2):c.94G>C:p.Gly32Arg	coding	Pathogenic
3	71784969	G	C	G71784969C	PROK2	NM_001126128.2(PROK2):c.84C>G:p.Ala28=	coding	Benign/Likely_benign
3	71784983	C	G	C71784983G	PROK2	NM_001126128.2(PROK2):c.70G>C:p.Ala24Pro	coding	Pathogenic
3	71785056	G	T	G71785056T	PROK2	NM_001126128.2(PROK2):c.-4C>A	noncoding	Benign
3	71785087	T	C	T71785087C	PROK2	NM_001126128.2(PROK2):c.-35A>G	noncoding	Benign
3	72750397	C	T	C72750397T	SHQ1	NM_018130.3(SHQ1):c.1621G>A:p.Glu541Lys	coding	Benign
3	72812680	A	G	A72812680G	SHQ1	NM_018130.3(SHQ1):c.1051T>C:p.Leu351=	coding	Benign
3	72832463	T	C	T72832463C	SHQ1	NM_018130.3(SHQ1):c.505A>G:p.Ile169Val	coding	Benign
3	72841130	C	T	C72841130T	SHQ1	NM_018130.3(SHQ1):c.401G>A:p.Cys134Tyr	coding	Benign
3	72842349	G	A	G72842349A	SHQ1	NM_018130.3(SHQ1):c.262C>T:p.Leu88=	coding	Benign
3	72848316	T	C	T72848316C	SHQ1	NM_018130.3(SHQ1):c.25A>G:p.Ser9Gly	coding	Benign
3	72922258	A	G	A72922258G	GXYLT2	NM_001080393.2(GXYLT2):c.523A>G:p.Ile175Val	coding	Benign
3	72922263	A	G	A72922263G	GXYLT2	NM_001080393.2(GXYLT2):c.528A>G:p.Thr176=	coding	Benign
3	73384579	C	T	C73384579T	PDZRN3	NM_015009.3(PDZRN3):c.1987G>A:p.Gly663Ser	coding	Benign
3	73384940	C	G	C73384940G	PDZRN3	NM_015009.3(PDZRN3):c.1636-10G>C	noncoding	Benign
3	73388034	A	G	A73388034G	PDZRN3	NM_015009.3(PDZRN3):c.1452T>C:p.Ala484=	coding	Benign
3	73404390	G	A	G73404390A	PDZRN3	NM_015009.3(PDZRN3):c.924C>T:p.Asn308=	coding	Benign
3	74266626	T	C	T74266626C	CNTN3	NM_020872.2(CNTN3):c.2841A>G:p.Gln947=	coding	Benign
3	74285307	G	A	G74285307A	CNTN3	NM_020872.2(CNTN3):c.2702C>T:p.Thr901Met	coding	Benign
3	74301523	G	A	G74301523A	CNTN3	NM_020872.2(CNTN3):c.1970C>T:p.Thr657Met	coding	Benign
3	74301718	T	C	T74301718C	CNTN3	NM_020872.2(CNTN3):c.1874A>G:p.His625Arg	coding	Benign
3	74302712	A	T	A74302712T	CNTN3	NM_020872.2(CNTN3):c.1764T>A:p.Ser588=	coding	Benign
3	74365709	T	C	T74365709C	CNTN3	NM_020872.2(CNTN3):c.947-7A>G	noncoding	Benign
3	74369922	G	A	G74369922A	CNTN3	NM_020872.2(CNTN3):c.728C>T:p.Ser243Leu	coding	Benign
3	74424945	T	G	T74424945G	CNTN3	NM_020872.2(CNTN3):c.359-5A>C	noncoding	Benign
3	74499795	T	A	T74499795A	CNTN3	NM_020872.2(CNTN3):c.56-10A>T	noncoding	Benign
3	75741362	T	C	T75741362C	ZNF717	NM_001290208.3(ZNF717):c.191A>G:p.Tyr64Cys	coding	Benign
3	75937512	C	A	C75937512A	ROBO2	NM_001128929.3(ROBO2):c.19C>A:p.Arg7Ser	noncoding	Benign
3	75937566	G	A	G75937566A	ROBO2	NM_001128929.3(ROBO2):c.73G>A:p.Val25Met	noncoding	Benign
3	77040244	T	C	T77040244C	ROBO2	NM_001128929.3(ROBO2):c.110-57770T>C	noncoding	Benign
3	77040327	G	A	G77040327A	ROBO2	NM_001128929.3(ROBO2):c.110-57687G>A	noncoding	Benign
3	77040382	G	C	G77040382C	ROBO2	NM_001128929.3(ROBO2):c.110-57632G>C	noncoding	Benign
3	77040548	T	G	T77040548G	ROBO2	NM_001128929.3(ROBO2):c.110-57466T>G	noncoding	Benign
3	77098000	G	T	G77098000T	ROBO2	NM_001128929.3(ROBO2):c.110-14G>T	noncoding	Benign
3	77098046	C	A	C77098046A	ROBO2	NM_001128929.3(ROBO2):c.142C>A:p.Arg48=	coding	Benign
3	77098123	G	T	G77098123T	ROBO2	NM_001128929.3(ROBO2):c.219G>T:p.Arg73=	coding	Benign
3	77477487	C	T	C77477487T	ROBO2	NM_001128929.3(ROBO2):c.510C>T:p.Cys170=	coding	Benign
3	77477496	C	T	C77477496T	ROBO2	NM_001128929.3(ROBO2):c.519C>T:p.Pro173=	coding	Benign
3	77481096	C	T	C77481096T	ROBO2	NM_001128929.3(ROBO2):c.595-3C>T	noncoding	Benign
3	77522768	T	A	T77522768A	ROBO2	NM_001128929.3(ROBO2):c.855-7T>A	noncoding	Benign
3	77522898	C	T	C77522898T	ROBO2	NM_001128929.3(ROBO2):c.978C>T:p.Val326=	coding	Benign
3	77546393	A	G	A77546393G	ROBO2	NM_001128929.3(ROBO2):c.1038A>G:p.Thr346=	coding	Benign
3	77550808	G	A	G77550808A	ROBO2	NM_001128929.3(ROBO2):c.1108-10G>A	noncoding	Benign
3	77557996	G	T	G77557996T	ROBO2	NM_001128929.3(ROBO2):c.1332G>T:p.Thr444=	coding	Benign
3	77563191	A	T	A77563191T	ROBO2	NM_001128929.3(ROBO2):c.1592A>T:p.Asn531Ile	coding	Benign/Likely_benign
3	77565010	A	G	A77565010G	ROBO2	NM_001128929.3(ROBO2):c.1787A>G:p.Tyr596Cys	coding	Benign
3	77565064	T	C	T77565064C	ROBO2	NM_001128929.3(ROBO2):c.1841T>C:p.Ile614Thr	coding	Benign
3	77565128	C	G	C77565128G	ROBO2	NM_001128929.3(ROBO2):c.1897+8C>G	noncoding	Benign
3	77568407	T	C	T77568407C	ROBO2	NM_001128929.3(ROBO2):c.1992T>C:p.Thr664=	coding	Benign
3	77574545	G	A	G77574545A	ROBO2	NM_001128929.3(ROBO2):c.2066G>A:p.Arg689His	coding	Benign
3	77574601	C	T	C77574601T	ROBO2	NM_001128929.3(ROBO2):c.2122C>T:p.Pro708Ser	coding	Benign
3	77579935	C	A	C77579935A	ROBO2	NM_001128929.3(ROBO2):c.2377-12C>A	noncoding	Benign
3	77580012	C	T	C77580012T	ROBO2	NM_001128929.3(ROBO2):c.2442C>T:p.Ser814=	coding	Benign/Likely_benign
3	77580050	G	A	G77580050A	ROBO2	NM_001128929.3(ROBO2):c.2480G>A:p.Arg827Gln	coding	Benign
3	77595193	C	T	C77595193T	ROBO2	NM_001128929.3(ROBO2):c.2774+9C>T	noncoding	Benign
3	77602412	A	G	A77602412G	ROBO2	NM_001128929.3(ROBO2):c.3105A>G:p.Gln1035=	coding	Benign
3	77617535	C	T	C77617535T	ROBO2	NM_001128929.3(ROBO2):c.3364C>T:p.Pro1122Ser	coding	Benign
3	77617627	C	T	C77617627T	ROBO2	NM_001128929.3(ROBO2):c.3456C>T:p.Gly1152=	coding	Benign
3	77622335	C	T	C77622335T	ROBO2	NM_001128929.3(ROBO2):c.3711C>T:p.Ala1237=	coding	Benign
3	77622378	G	A	G77622378A	ROBO2	NM_001128929.3(ROBO2):c.3754G>A:p.Ala1252Thr	coding	Pathogenic
3	77622425	T	C	T77622425C	ROBO2	NM_001128929.3(ROBO2):c.3801T>C:p.Ser1267=	coding	Benign
3	77634985	G	A	G77634985A	ROBO2	NM_001128929.3(ROBO2):c.3924G>A:p.Lys1308=	coding	Benign
3	77644807	C	T	C77644807T	ROBO2	NM_001128929.3(ROBO2):c.4086C>T:p.Thr1362=	coding	Benign
3	77644825	C	T	C77644825T	ROBO2	NM_001128929.3(ROBO2):c.4104C>T:p.Gly1368=	coding	Benign/Likely_benign
3	77644909	G	C	G77644909C	ROBO2	NM_001128929.3(ROBO2):c.4183+5G>C	noncoding	Benign
3	77646103	G	A	G77646103A	ROBO2	NM_001128929.3(ROBO2):c.*48G>A	noncoding	Benign
3	77646176	G	A	G77646176A	ROBO2	NM_001128929.3(ROBO2):c.*121G>A	noncoding	Benign
3	77646541	A	T	A77646541T	ROBO2	NM_001128929.3(ROBO2):c.*486A>T	noncoding	Benign
3	77646665	T	C	T77646665C	ROBO2	NM_001128929.3(ROBO2):c.*610T>C	noncoding	Benign
3	77646754	G	T	G77646754T	ROBO2	NM_001128929.3(ROBO2):c.*699G>T	noncoding	Benign
3	77646826	T	C	T77646826C	ROBO2	NM_001128929.3(ROBO2):c.*771T>C	noncoding	Benign
3	77647040	C	A	C77647040A	ROBO2	NM_001128929.3(ROBO2):c.*985C>A	noncoding	Benign
3	77647095	T	G	T77647095G	ROBO2	NM_001128929.3(ROBO2):c.*1040T>G	noncoding	Benign
3	77647102	T	C	T77647102C	ROBO2	NM_001128929.3(ROBO2):c.*1047T>C	noncoding	Benign
3	77647107	G	A	G77647107A	ROBO2	NM_001128929.3(ROBO2):c.*1052G>A	noncoding	Benign
3	77647116	C	T	C77647116T	ROBO2	NM_001128929.3(ROBO2):c.*1061C>T	noncoding	Benign
3	77647169	G	A	G77647169A	ROBO2	NM_001128929.3(ROBO2):c.*1114G>A	noncoding	Benign
3	77647271	C	T	C77647271T	ROBO2	NM_001128929.3(ROBO2):c.*1216C>T	noncoding	Benign
3	77647345	G	T	G77647345T	ROBO2	NM_001128929.3(ROBO2):c.*1290G>T	noncoding	Benign
3	77647794	A	G	A77647794G	ROBO2	NM_001128929.3(ROBO2):c.*1739A>G	noncoding	Benign
3	77647809	C	T	C77647809T	ROBO2	NM_001128929.3(ROBO2):c.*1754C>T	noncoding	Benign
3	77647838	C	T	C77647838T	ROBO2	NM_001128929.3(ROBO2):c.*1783C>T	noncoding	Benign
3	77648013	C	T	C77648013T	ROBO2	NM_001128929.3(ROBO2):c.*1958C>T	noncoding	Benign
3	77648014	G	C	G77648014C	ROBO2	NM_001128929.3(ROBO2):c.*1959G>C	noncoding	Benign
3	77648251	G	A	G77648251A	ROBO2	NM_001128929.3(ROBO2):c.*2196G>A	noncoding	Benign
3	77648514	T	C	T77648514C	ROBO2	NM_001128929.3(ROBO2):c.*2459T>C	noncoding	Benign
3	77648689	T	C	T77648689C	ROBO2	NM_001128929.3(ROBO2):c.*2634T>C	noncoding	Benign
3	77648723	T	G	T77648723G	ROBO2	NM_001128929.3(ROBO2):c.*2668T>G	noncoding	Benign
3	77648730	C	G	C77648730G	ROBO2	NM_001128929.3(ROBO2):c.*2675C>G	noncoding	Benign
3	77648767	C	T	C77648767T	ROBO2	NM_001128929.3(ROBO2):c.*2712C>T	noncoding	Benign
3	77648792	G	A	G77648792A	ROBO2	NM_001128929.3(ROBO2):c.*2737G>A	noncoding	Benign
3	77648802	C	A	C77648802A	ROBO2	NM_001128929.3(ROBO2):c.*2747C>A	noncoding	Benign
3	77648844	G	A	G77648844A	ROBO2	NM_001128929.3(ROBO2):c.*2789G>A	noncoding	Benign
3	77648874	T	G	T77648874G	ROBO2	NM_001128929.3(ROBO2):c.*2819T>G	noncoding	Benign
3	77648920	T	C	T77648920C	ROBO2	NM_001128929.3(ROBO2):c.*2865T>C	noncoding	Benign
3	77649019	A	T	A77649019T	ROBO2	NM_001128929.3(ROBO2):c.*2964A>T	noncoding	Benign
3	77649056	A	G	A77649056G	ROBO2	NM_001128929.3(ROBO2):c.*3001A>G	noncoding	Benign
3	77649206	A	G	A77649206G	ROBO2	NM_001128929.3(ROBO2):c.*3151A>G	noncoding	Benign
3	77649238	G	A	G77649238A	ROBO2	NM_001128929.3(ROBO2):c.*3183G>A	noncoding	Benign
3	77649291	G	A	G77649291A	ROBO2	NM_001128929.3(ROBO2):c.*3236G>A	noncoding	Benign
3	77649308	C	T	C77649308T	ROBO2	NM_001128929.3(ROBO2):c.*3253C>T	noncoding	Benign
3	77649673	T	C	T77649673C	ROBO2	NM_001128929.3(ROBO2):c.*3618T>C	noncoding	Benign
3	77649780	T	C	T77649780C	ROBO2	NM_001128929.3(ROBO2):c.*3725T>C	noncoding	Benign
3	77649928	C	T	C77649928T	ROBO2	NM_001128929.3(ROBO2):c.*3873C>T	noncoding	Benign
3	77649978	C	T	C77649978T	ROBO2	NM_001128929.3(ROBO2):c.*3923C>T	noncoding	Benign
3	78606869	A	G	A78606869G	ROBO1	NM_002941.4(ROBO1):c.4608T>C:p.Asp1536=	coding	Benign
3	78606878	T	G	T78606878G	ROBO1	NM_002941.4(ROBO1):c.4599A>C:p.Glu1533Asp	coding	Benign
3	78627373	A	G	A78627373G	ROBO1	NM_002941.4(ROBO1):c.3823T>C:p.Leu1275=	coding	Benign
3	78627551	T	C	T78627551C	ROBO1	NM_002941.4(ROBO1):c.3645A>G:p.Pro1215=	coding	Benign
3	78633966	G	T	G78633966T	ROBO1	NM_002941.4(ROBO1):c.3450C>A:p.Tyr1150Ter	coding	Pathogenic
3	78635900	G	A	G78635900A	ROBO1	NM_002941.4(ROBO1):c.3246C>T:p.Asn1082=	coding	Benign
3	78636044	C	T	C78636044T	ROBO1	NM_002941.4(ROBO1):c.3102G>A:p.Glu1034=	coding	Benign
3	78646171	G	A	G78646171A	ROBO1	NM_002941.4(ROBO1):c.2859C>T:p.Gly953=	coding	Benign
3	78651779	C	T	C78651779T	ROBO1	NM_002941.4(ROBO1):c.2765G>A:p.Arg922His	coding	Benign
3	78651939	C	T	C78651939T	ROBO1	NM_002941.4(ROBO1):c.2615-10G>A	noncoding	Benign
3	78661139	T	A	T78661139A	ROBO1	NM_002941.4(ROBO1):c.2211A>T:p.Val737=	coding	Benign
3	78661986	A	C	A78661986C	ROBO1	NM_002941.4(ROBO1):c.2088+7T>G	noncoding	Benign
3	78668181	A	G	A78668181G	ROBO1	NM_002941.4(ROBO1):c.1752T>C:p.Asn584=	coding	Benign
3	78685855	G	A	G78685855A	ROBO1	NM_002941.4(ROBO1):c.1233C>T:p.Gly411=	coding	Benign
3	78685864	G	A	G78685864A	ROBO1	NM_002941.4(ROBO1):c.1224C>T:p.Ser408=	coding	Benign
3	78688663	C	T	C78688663T	ROBO1	NM_002941.4(ROBO1):c.1155G>A:p.Arg385=	coding	Benign
3	78688747	G	T	G78688747T	ROBO1	NM_002941.4(ROBO1):c.1071C>A:p.Pro357=	coding	Benign
3	78717394	C	T	C78717394T	ROBO1	NM_002941.4(ROBO1):c.798G>A:p.Lys266=	coding	Benign
3	78717822	C	G	C78717822G	ROBO1	NM_002941.4(ROBO1):c.719G>C:p.Cys240Ser	coding	Pathogenic
3	78717842	A	G	A78717842G	ROBO1	NM_002941.4(ROBO1):c.699T>C:p.Ser233=	coding	Benign
3	78746863	G	A	G78746863A	ROBO1	NM_002941.4(ROBO1):c.537C>T:p.Val179=	coding	Benign
3	79125469	C	T	C79125469T	ROBO1	NM_002941.4(ROBO1):c.159G>A:p.Ser53=	coding	Benign
3	79589817	C	A	C79589817A	ROBO1	NM_002941.4(ROBO1):c.88+7G>T	noncoding	Benign
3	81489884	A	T	A81489884T	GBE1	NM_000158.4(GBE1):c.*523T>A	noncoding	Benign
3	81489913	T	A	T81489913A	GBE1	NM_000158.4(GBE1):c.*494A>T	noncoding	Benign
3	81490231	C	T	C81490231T	GBE1	NM_000158.4(GBE1):c.*176G>A	noncoding	Benign
3	81490255	G	T	G81490255T	GBE1	NM_000158.4(GBE1):c.*152C>A	noncoding	Benign
3	81499127	G	A	G81499127A	GBE1	NM_000158.4(GBE1):c.2035C>T:p.Arg679Cys	coding	Benign/Likely_benign
3	81499145	C	T	C81499145T	GBE1	NM_000158.4(GBE1):c.2017G>A:p.Ala673Thr	coding	Benign/Likely_benign
3	81499146	C	T	C81499146T	GBE1	NM_000158.4(GBE1):c.2016G>A:p.Glu672=	coding	Benign
3	81535220	G	A	G81535220A	GBE1	NM_000158.4(GBE1):c.1909C>T:p.Arg637Ter	coding	Pathogenic/Likely_pathogenic
3	81536926	C	T	C81536926T	GBE1	NM_000158.4(GBE1):c.1788G>A:p.Trp596Ter	coding	Pathogenic
3	81536940	C	A	C81536940A	GBE1	NM_000158.4(GBE1):c.1774G>T:p.Glu592Ter	coding	Pathogenic
3	81536998	G	A	G81536998A	GBE1	NM_000158.4(GBE1):c.1716C>T:p.Asp572=	coding	Benign
3	81537071	C	T	C81537071T	GBE1	NM_000158.4(GBE1):c.1643G>A:p.Trp548Ter	coding	Pathogenic
3	81537080	T	C	T81537080C	GBE1	NM_000158.4(GBE1):c.1634A>G:p.His545Arg	coding	Pathogenic
3	81577972	C	T	C81577972T	GBE1	NM_000158.4(GBE1):c.1571G>A:p.Arg524Gln	coding	Pathogenic
3	81577973	G	A	G81577973A	GBE1	NM_000158.4(GBE1):c.1570C>T:p.Arg524Ter	coding	Pathogenic
3	81577999	C	T	C81577999T	GBE1	NM_000158.4(GBE1):c.1544G>A:p.Arg515His	coding	Pathogenic/Likely_pathogenic
3	81578000	G	A	G81578000A	GBE1	NM_000158.4(GBE1):c.1543C>T:p.Arg515Cys	coding	Pathogenic/Likely_pathogenic
3	81578024	T	C	T81578024C	GBE1	NM_000158.4(GBE1):c.1519A>G:p.Thr507Ala	coding	Benign
3	81581225	G	C	G81581225C	GBE1	NM_000158.4(GBE1):c.1386C>G:p.Tyr462Ter	coding	Pathogenic
3	81581266	C	A	C81581266A	GBE1	NM_000158.4(GBE1):c.1345G>T:p.Glu449Ter	coding	Pathogenic
3	81586127	G	A	G81586127A	GBE1	NM_000158.4(GBE1):c.1300C>T:p.Arg434Ter	coding	Pathogenic
3	81594024	C	A	C81594024A	GBE1	NM_000158.4(GBE1):c.993-1G>T	coding	Pathogenic
3	81642787	T	G	T81642787G	GBE1	NM_000158.4(GBE1):c.986A>C:p.Tyr329Ser	coding	Pathogenic
3	81642914	C	G	C81642914G	GBE1	NM_000158.4(GBE1):c.859G>C:p.Val287Leu	coding	Benign
3	81642934	C	T	C81642934T	GBE1	NM_000158.4(GBE1):c.839G>A:p.Gly280Asp	coding	Benign/Likely_benign
3	81642989	G	A	G81642989A	GBE1	NM_000158.4(GBE1):c.784C>T:p.Arg262Cys	coding	Pathogenic
3	81642991	C	T	C81642991T	GBE1	NM_000158.4(GBE1):c.783-1G>A	coding	Pathogenic
3	81646403	A	T	A81646403T	GBE1	NM_000158.4(GBE1):c.771T>A:p.Phe257Leu	coding	Pathogenic
3	81646466	C	G	C81646466G	GBE1	NM_000158.4(GBE1):c.708G>C:p.Gln236His	coding	Pathogenic
3	81648851	C	G	C81648851G	GBE1	NM_000158.4(GBE1):c.691+5G>C	noncoding	Pathogenic
3	81648854	A	G	A81648854G	GBE1	NM_000158.4(GBE1):c.691+2T>C	noncoding	Pathogenic
3	81648876	A	G	A81648876G	GBE1	NM_000158.4(GBE1):c.671T>C:p.Leu224Pro	coding	Pathogenic/Likely_pathogenic
3	81648907	C	T	C81648907T	GBE1	NM_000158.4(GBE1):c.640G>A:p.Ala214Thr	coding	Benign/Likely_benign
3	81648968	C	T	C81648968T	GBE1	NM_000158.4(GBE1):c.579G>A:p.Lys193=	coding	Benign
3	81648979	T	C	T81648979C	GBE1	NM_000158.4(GBE1):c.568A>G:p.Arg190Gly	coding	Benign
3	81670852	C	A	C81670852A	GBE1	NM_000158.4(GBE1):c.415G>T:p.Gly139Ter	coding	Pathogenic
3	81670925	G	A	G81670925A	GBE1	NM_000158.4(GBE1):c.342C>T:p.Tyr114=	coding	Benign
3	81670931	G	T	G81670931T	GBE1	NM_000158.4(GBE1):c.336C>A:p.Tyr112Ter	coding	Pathogenic
3	81705581	A	G	A81705581G	GBE1	NM_000158.4(GBE1):c.176T>C:p.Ile59Thr	coding	Benign
3	81761364	T	G	T81761364G	GBE1	NM_000158.4(GBE1):c.143+11A>C	noncoding	Benign/Likely_benign
3	81761365	C	A	C81761365A	GBE1	NM_000158.4(GBE1):c.143+10G>T	noncoding	Benign
3	81761374	C	T	C81761374T	GBE1	NM_000158.4(GBE1):c.143+1G>A	noncoding	Pathogenic
3	81761400	G	T	G81761400T	GBE1	NM_000158.4(GBE1):c.118C>A:p.Pro40Thr	coding	Benign/Likely_benign
3	81761494	C	T	C81761494T	GBE1	NM_000158.4(GBE1):c.24G>A:p.Ala8=	coding	Benign/Likely_benign
3	81761545	C	A	C81761545A	GBE1	NM_000158.4(GBE1):c.-28G>T	noncoding	Benign/Likely_benign
3	85886263	C	T	C85886263T	CADM2	NM_001167675.2(CADM2):c.465C>T:p.Cys155=	coding	Benign
3	85979286	A	G	A85979286G	CADM2	NM_001167674.2(CADM2):c.1063+3A>G	noncoding	Benign
3	86065615	T	C	T86065615C	CADM2	NM_001167675.2(CADM2):c.981T>C:p.Ala327=	coding	Benign
3	86065684	G	C	G86065684C	CADM2	NM_001167675.2(CADM2):c.1050G>C:p.Thr350=	coding	Benign
3	87227372	C	A	C87227372A	CHMP2B	NM_014043.4(CHMP2B):c.-151C>A	noncoding	Benign
3	87227421	C	T	C87227421T	CHMP2B	NM_014043.4(CHMP2B):c.-102C>T	noncoding	Benign
3	87227549	C	T	C87227549T	CHMP2B	NM_014043.4(CHMP2B):c.27C>T:p.Thr9=	coding	Benign
3	87227564	C	T	C87227564T	CHMP2B	NM_014043.4(CHMP2B):c.34+8C>T	noncoding	Benign
3	87240692	C	T	C87240692T	CHMP2B	NM_014043.4(CHMP2B):c.35-7C>T	noncoding	Benign
3	87245779	A	G	A87245779G	CHMP2B	NM_014043.4(CHMP2B):c.192A>G:p.Gln64=	coding	Benign
3	87245899	T	C	T87245899C	CHMP2B	NM_014043.4(CHMP2B):c.312T>C:p.Thr104=	coding	Benign
3	87249917	T	C	T87249917C	CHMP2B	NM_014043.4(CHMP2B):c.364T>C:p.Leu122=	coding	Benign
3	87249925	A	C	A87249925C	CHMP2B	NM_014043.4(CHMP2B):c.372A>C:p.Thr124=	coding	Benign
3	87253421	G	T	G87253421T	CHMP2B	NM_014043.4(CHMP2B):c.442G>T:p.Asp148Tyr	coding	Pathogenic
3	87253472	C	T	C87253472T	CHMP2B	NM_014043.4(CHMP2B):c.493C>T:p.Gln165Ter	coding	Pathogenic
3	87253711	G	A	G87253711A	CHMP2B	NM_014043.4(CHMP2B):c.532-1G>A	noncoding	Pathogenic
3	87253729	A	G	A87253729G	CHMP2B	NM_014043.4(CHMP2B):c.549A>G:p.Ser183=	coding	Benign/Likely_benign
3	87253736	C	T	C87253736T	CHMP2B	NM_014043.4(CHMP2B):c.556C>T:p.Arg186Ter	coding	Pathogenic
3	87253740	G	A	G87253740A	CHMP2B	NM_014043.4(CHMP2B):c.560G>A:p.Ser187Asn	coding	Benign
3	87253798	A	C	A87253798C	CHMP2B	NM_014043.4(CHMP2B):c.618A>C:p.Gln206His	coding	Pathogenic
3	87254053	T	C	T87254053C	CHMP2B	NM_014043.4(CHMP2B):c.*231T>C	noncoding	Benign
3	87254566	C	A	C87254566A	CHMP2B	NM_014043.4(CHMP2B):c.*744C>A	noncoding	Benign
3	87254658	T	C	T87254658C	CHMP2B	NM_014043.4(CHMP2B):c.*836T>C	noncoding	Benign
3	87254686	G	A	G87254686A	CHMP2B	NM_014043.4(CHMP2B):c.*864G>A	noncoding	Benign
3	87254893	A	G	A87254893G	CHMP2B	NM_014043.4(CHMP2B):c.*1071A>G	noncoding	Benign
3	87255012	G	T	G87255012T	CHMP2B	NM_014043.4(CHMP2B):c.*1190G>T	noncoding	Benign/Likely_benign
3	87255077	G	T	G87255077T	CHMP2B	NM_014043.4(CHMP2B):c.*1255G>T	noncoding	Benign
3	87255198	G	C	G87255198C	CHMP2B	NM_014043.4(CHMP2B):c.*1376G>C	noncoding	Benign
3	87255230	A	G	A87255230G	CHMP2B	NM_014043.4(CHMP2B):c.*1408A>G	noncoding	Benign
3	87255325	G	C	G87255325C	CHMP2B	NM_014043.4(CHMP2B):c.*1503G>C	noncoding	Benign/Likely_benign
3	87255410	C	T	C87255410T	CHMP2B	NM_014043.4(CHMP2B):c.*1588C>T	noncoding	Benign
3	87255411	G	A	G87255411A	POU1F1;CHMP2B	NM_014043.4(CHMP2B):c.*1589G>A	noncoding	Benign/Likely_benign
3	87255432	C	T	C87255432T	CHMP2B	NM_014043.4(CHMP2B):c.*1610C>T	noncoding	Benign
3	87259754	T	A	T87259754A	POU1F1;CHMP2B	NM_000306.4(POU1F1):c.*140A>T	noncoding	Benign/Likely_benign
3	87259755	A	T	A87259755T	POU1F1;CHMP2B	NM_000306.4(POU1F1):c.*139T>A	noncoding	Benign/Likely_benign
3	87259756	A	T	A87259756T	POU1F1;CHMP2B	NM_000306.4(POU1F1):c.*138T>A	noncoding	Benign/Likely_benign
3	87260022	C	A	C87260022A	POU1F1	NM_000306.4(POU1F1):c.748G>T:p.Glu250Ter	coding	Pathogenic
3	87260055	G	A	G87260055A	POU1F1	NM_000306.4(POU1F1):c.715C>T:p.Pro239Ser	coding	Pathogenic
3	87260082	C	T	C87260082T	POU1F1	NM_000306.4(POU1F1):c.688G>A:p.Glu230Lys	coding	Pathogenic
3	87260109	C	T	C87260109T	POU1F1;CHMP2B	NM_000306.4(POU1F1):c.666-5G>A	noncoding	Benign/Likely_benign
3	87261272	C	A	C87261272A	POU1F1	NM_000306.4(POU1F1):c.665+1G>T	noncoding	Pathogenic
3	87262098	A	G	A87262098G	POU1F1	NM_000306.4(POU1F1):c.577T>C:p.Trp193Arg	coding	Pathogenic
3	87262138	G	C	G87262138C	POU1F1	NM_000306.4(POU1F1):c.537C>G:p.Ser179Arg	coding	Pathogenic
3	87262161	G	A	G87262161A	POU1F1	NM_000306.4(POU1F1):c.514C>T:p.Arg172Ter	coding	Pathogenic
3	87262203	C	G	C87262203G	POU1F1	NM_000306.4(POU1F1):c.472G>C:p.Ala158Pro	coding	Pathogenic
3	87264294	T	A	T87264294A	POU1F1	NM_000306.4(POU1F1):c.433A>T:p.Lys145Ter	coding	Pathogenic
3	87264299	C	T	C87264299T	POU1F1	NM_000306.4(POU1F1):c.428G>A:p.Arg143Gln	coding	Pathogenic
3	87264323	A	C	A87264323C	POU1F1	NM_000306.4(POU1F1):c.404T>G:p.Phe135Cys	coding	Pathogenic
3	87273422	T	A	T87273422A	POU1F1	NM_000306.4(POU1F1):c.143-4A>T	coding	Benign
3	87276392	G	A	G87276392A	POU1F1	NM_000306.4(POU1F1):c.71C>T:p.Pro24Leu	coding	Pathogenic
3	89210450	C	T	C89210450T	EPHA3	NM_005233.6(EPHA3):c.744C>T:p.Gly248=	coding	Benign
3	89431343	C	G	C89431343G	EPHA3	NM_005233.6(EPHA3):c.2330C>G:p.Ala777Gly	coding	Benign
3	89450365	C	T	C89450365T	EPHA3	NM_005233.6(EPHA3):c.2685C>T:p.Ala895=	coding	Benign
3	93873725	T	G	T93873725G	PROS1	NM_000313.3(PROS1):c.*520A>C	noncoding	Benign
3	93874245	T	A	T93874245A	PROS1	NM_000313.3(PROS1):c.2031A>T:p.Ter677Tyr	coding	Pathogenic
3	93874275	T	C	T93874275C	PROS1	NM_000313.3(PROS1):c.2001A>G:p.Pro667=	coding	Benign
3	93874280	A	G	A93874280G	PROS1	NM_000313.3(PROS1):c.1996T>C:p.Cys666Arg	coding	Pathogenic
3	93874357	A	G	A93874357G	PROS1	NM_000313.4(PROS1):c.1919T>C:p.Met640Thr	coding	Pathogenic
3	93874360	C	T	C93874360T	PROS1	NM_000313.3(PROS1):c.1916G>A:p.Cys639Tyr	coding	Pathogenic
3	93877123	T	C	T93877123C	PROS1	NM_000313.3(PROS1):c.1713A>G:p.Gln571=	coding	Benign
3	93877156	A	T	A93877156T	PROS1	NM_000313.3(PROS1):c.1680T>A:p.Tyr560Ter	coding	Pathogenic/Likely_pathogenic
3	93879279	C	T	C93879279T	PROS1	NM_000313.3(PROS1):c.1528G>A:p.Val510Met	coding	Benign
3	93879313	A	G	A93879313G	PROS1	NM_000313.3(PROS1):c.1494T>C:p.Asn498=	coding	Benign/Likely_benign
3	93884774	G	A	G93884774A	PROS1	NM_000313.4(PROS1):c.1446C>T:p.Gly482=	coding	Benign/Likely_benign
3	93884869	G	A	G93884869A	PROS1	NM_000313.3(PROS1):c.1351C>T:p.Arg451Ter	coding	Pathogenic/Likely_pathogenic
3	93886455	C	A	C93886455A	PROS1	NM_000313.3(PROS1):c.1204G>T:p.Glu402Ter	coding	Pathogenic
3	93886504	C	T	C93886504T	PROS1	NM_000313.3(PROS1):c.1156-1G>A	coding	Pathogenic
3	93892929	G	C	G93892929C	PROS1	NM_000313.4(PROS1):c.1155+4C>G	noncoding	Benign
3	93892939	C	T	C93892939T	PROS1	NM_000313.4(PROS1):c.1149G>A:p.Trp383Ter	coding	Pathogenic
3	93893025	G	A	G93893025A	PROS1	NM_000313.3(PROS1):c.1063C>T:p.Arg355Cys	coding	Pathogenic
3	93893056	G	A	G93893056A	PROS1	NM_000313.3(PROS1):c.1032C>T:p.Ile344=	coding	Benign/Likely_benign
3	93898462	G	A	G93898462A	PROS1	NM_000313.3(PROS1):c.835C>T:p.Gln279Ter	coding	Pathogenic
3	93898524	T	C	T93898524C	PROS1	NM_000313.3(PROS1):c.773A>G:p.Asn258Ser	coding	Pathogenic
3	93900830	T	C	T93900830C	PROS1	NM_000313.3(PROS1):c.701A>G:p.Tyr234Cys	coding	Pathogenic
3	93905799	T	C	T93905799C	PROS1	NM_000313.3(PROS1):c.586A>G:p.Lys196Glu	coding	Pathogenic
3	93905804	G	T	G93905804T	PROS1	NM_000313.4(PROS1):c.581C>A:p.Ser194Ter	coding	Pathogenic
3	93905917	T	A	T93905917A	PROS1	NM_000313.4(PROS1):c.470-2A>T	noncoding	Pathogenic
3	93927401	G	C	G93927401C	PROS1	NM_000313.4(PROS1):c.83C>G:p.Ser28Ter	coding	Pathogenic
3	93927408	C	G	C93927408G	PROS1	NM_000313.3(PROS1):c.77-1G>C	coding	Pathogenic
3	93973702	G	T	G93973702T	PROS1	NM_000313.4(PROS1):c.48C>A:p.Leu16=	coding	Benign
3	93995879	T	G	T93995879G	ARL13B	NM_001174150.2(ARL13B):c.65T>G:p.Val22Gly	coding	Pathogenic
3	93995919	C	T	C93995919T	ARL13B	NM_001174150.2(ARL13B):c.105C>T:p.Thr35=	coding	Benign/Likely_benign
3	94003364	A	G	A94003364G	ARL13B	NM_001174150.2(ARL13B):c.131-295A>G	noncoding	Benign
3	94003658	G	T	G94003658T	ARL13B	NM_001174150.2(ARL13B):c.131-1G>T	noncoding	Pathogenic
3	94003764	G	A	G94003764A	ARL13B	NM_001174150.2(ARL13B):c.236G>A:p.Arg79Gln	coding	Pathogenic
3	94003774	G	A	G94003774A	ARL13B	NM_001174150.2(ARL13B):c.246G>A:p.Trp82Ter	coding	Pathogenic
3	94003785	A	G	A94003785G	ARL13B	NM_001174150.2(ARL13B):c.257A>G:p.Tyr86Cys	coding	Pathogenic
3	94035411	A	G	A94035411G	ARL13B	NM_001174150.2(ARL13B):c.461A>G:p.Asn154Ser	coding	Pathogenic
3	94036663	C	T	C94036663T	ARL13B	NM_001174150.2(ARL13B):c.598C>T:p.Arg200Cys	coding	Pathogenic
3	94036736	G	A	G94036736A	ARL13B	NM_001174150.2(ARL13B):c.671G>A:p.Arg224Gln	coding	Benign
3	94040235	A	G	A94040235G	ARL13B	NM_001174150.2(ARL13B):c.798+247A>G	noncoding	Benign
3	94049358	G	A	G94049358A	ARL13B	NM_001174150.2(ARL13B):c.1025-48G>A	noncoding	Benign
3	94049424	C	G	C94049424G	ARL13B	NM_001174150.2(ARL13B):c.1043C>G:p.Thr348Ser	coding	Benign
3	94050868	C	G	C94050868G	ARL13B	NM_001174150.2(ARL13B):c.1186C>G:p.Pro396Ala	coding	Benign/Likely_benign
3	94051088	A	G	A94051088G	ARL13B	NM_001174150.2(ARL13B):c.1210+196A>G	noncoding	Benign
3	94084279	C	T	C94084279T	NSUN3	NM_022072.5(NSUN3):c.295C>T:p.Arg99Ter	coding	Pathogenic
3	94084405	G	C	G94084405C	NSUN3	NM_022072.5(NSUN3):c.421G>C:p.Ala141Pro	coding	Pathogenic
3	94084438	T	A	T94084438A	NSUN3	NM_022072.5(NSUN3):c.454T>A:p.Cys152Ser	coding	Pathogenic
3	96814839	C	T	C96814839T	EPHA6	NM_001080448.3(EPHA6):c.216C>T:p.Thr72=	coding	Benign
3	97768199	C	G	C97768199G	ARL6	NM_001278293.3(ARL6):c.92C>G:p.Thr31Arg	coding	Pathogenic
3	97768199	C	T	C97768199T	ARL6	NM_001278293.3(ARL6):c.92C>T:p.Thr31Met	coding	Pathogenic
3	97780221	G	C	G97780221C	ARL6	NM_001278293.3(ARL6):c.185+1G>C	coding	Pathogenic
3	97780597	T	C	T97780597C	ARL6	NM_001278293.3(ARL6):c.186-18T>C	noncoding	Benign
3	97780621	A	G	A97780621G	ARL6	NM_001278293.3(ARL6):c.192A>G:p.Ser64=	coding	Benign
3	97784966	C	T	C97784966T	ARL6	NM_001278293.3(ARL6):c.266C>T:p.Ala89Val	coding	Pathogenic
3	97784972	T	C	T97784972C	ARL6	NM_001278293.3(ARL6):c.272T>C:p.Ile91Thr	coding	Pathogenic
3	97784991	T	A	T97784991A	ARL6	NM_001278293.3(ARL6):c.291T>A:p.Ser97Arg	coding	Pathogenic
3	97788002	G	A	G97788002A	ARL6	NM_001278293.3(ARL6):c.362G>A:p.Arg121His	coding	Pathogenic/Likely_pathogenic
3	97788004	C	T	C97788004T	ARL6	NM_001278293.3(ARL6):c.364C>T:p.Arg122Ter	coding	Pathogenic
3	97791763	C	T	C97791763T	ARL6	NM_001278293.3(ARL6):c.480-8C>T	noncoding	Benign/Likely_benign
3	97791800	T	G	T97791800G	ARL6	NM_001278293.3(ARL6):c.509T>G:p.Leu170Trp	coding	Pathogenic
3	97791819	G	T	G97791819T	ARL6	NM_001278293.3(ARL6):c.528G>T:p.Trp176Cys	coding	Pathogenic
3	97791826	G	A	G97791826A	ARL6	NM_001278293.3(ARL6):c.535G>A:p.Asp179Asn	coding	Pathogenic
3	97798274	G	C	G97798274C	ARL6	NM_001278293.3(ARL6):c.*225G>C	noncoding	Benign
3	97798304	C	T	C97798304T	ARL6	NM_001278293.3(ARL6):c.*255C>T	noncoding	Benign/Likely_benign
3	97875417	G	A	G97875417A	CRYBG3	NM_153605.4(CRYBG3):c.4223G>A:p.Gly1408Glu	coding	Benign
3	97875489	C	T	C97875489T	CRYBG3	NM_153605.4(CRYBG3):c.4295C>T:p.Ser1432Leu	coding	Benign
3	97876178	C	A	C97876178A	CRYBG3	NM_153605.4(CRYBG3):c.4984C>A:p.Pro1662Thr	coding	Benign
3	97876535	G	A	G97876535A	CRYBG3	NM_153605.4(CRYBG3):c.5341G>A:p.Val1781Met	coding	Benign
3	98087607	G	T	G98087607T	OR5AC2	NM_054106.1(OR5AC2):c.435G>T:p.Gln145His	coding	Benign
3	98532367	A	G	A98532367G	GPR15	NM_005290.4(GPR15):c.334A>G:p.Met112Val	coding	Benign
3	98532771	C	T	C98532771T	GPR15	NM_005290.4(GPR15):c.738C>T:p.Val246=	coding	Benign
3	98579578	T	C	T98579578C	CPOX	NM_000097.7(CPOX):c.*1105A>G	noncoding	Benign
3	98579611	G	A	G98579611A	CPOX	NM_000097.7(CPOX):c.*1072C>T	noncoding	Benign
3	98579756	C	T	C98579756T	CPOX	NM_000097.7(CPOX):c.*927G>A	noncoding	Benign
3	98580004	C	T	C98580004T	CPOX	NM_000097.7(CPOX):c.*679G>A	noncoding	Benign
3	98580088	G	T	G98580088T	CPOX	NM_000097.7(CPOX):c.*595C>A	noncoding	Benign
3	98580208	A	T	A98580208T	CPOX	NM_000097.7(CPOX):c.*475T>A	noncoding	Benign
3	98580302	G	A	G98580302A	CPOX	NM_000097.7(CPOX):c.*381C>T	noncoding	Benign
3	98580354	C	G	C98580354G	CPOX	NM_000097.7(CPOX):c.*329G>C	noncoding	Benign
3	98580456	C	T	C98580456T	CPOX	NM_000097.7(CPOX):c.*227G>A	noncoding	Benign
3	98580488	A	G	A98580488G	CPOX	NM_000097.7(CPOX):c.*195T>C	noncoding	Benign
3	98580521	T	G	T98580521G	CPOX	NM_000097.7(CPOX):c.*162A>C	noncoding	Benign
3	98580547	C	G	C98580547G	CPOX	NM_000097.7(CPOX):c.*136G>C	noncoding	Benign
3	98580588	C	T	C98580588T	CPOX	NM_000097.7(CPOX):c.*95G>A	noncoding	Benign
3	98580610	A	G	A98580610G	CPOX	NM_000097.7(CPOX):c.*73T>C	noncoding	Benign
3	98581404	T	C	T98581404C	CPOX	NM_000097.7(CPOX):c.1277+3A>G	noncoding	Pathogenic
3	98585427	T	C	T98585427C	CPOX	NM_000097.7(CPOX):c.1172+14A>G	noncoding	Benign
3	98585464	C	T	C98585464T	CPOX	NM_000097.7(CPOX):c.1149G>A:p.Leu383=	coding	Benign
3	98585475	G	C	G98585475C	CPOX	NM_000097.7(CPOX):c.1138C>G:p.Gln380Glu	coding	Benign
3	98585505	T	C	T98585505C	CPOX	NM_000097.7(CPOX):c.1108A>G:p.Lys370Glu	coding	Benign
3	98585559	G	A	G98585559A	CPOX	NM_000097.7(CPOX):c.1054C>T:p.Arg352Cys	coding	Benign
3	98585622	G	A	G98585622A	CPOX	NM_000097.7(CPOX):c.991C>T:p.Arg331Trp	coding	Pathogenic
3	98585623	T	C	T98585623C	CPOX	NM_000097.7(CPOX):c.990A>G:p.Glu330=	coding	Benign
3	98585631	G	A	G98585631A	CPOX	NM_000097.7(CPOX):c.982C>T:p.Arg328Cys	coding	Pathogenic
3	98585633	T	C	T98585633C	CPOX	NM_000097.7(CPOX):c.980A>G:p.His327Arg	coding	Pathogenic
3	98585674	G	A	G98585674A	CPOX	NM_000097.7(CPOX):c.954-15C>T	noncoding	Benign
3	98588783	G	C	G98588783C	CPOX	NM_000097.7(CPOX):c.883C>G:p.His295Asp	coding	Pathogenic
3	98588786	C	T	C98588786T	CPOX	NM_000097.7(CPOX):c.880G>A:p.Val294Ile	coding	Benign
3	98588831	C	G	C98588831G	CPOX	NM_000097.7(CPOX):c.835G>C:p.Gly279Arg	coding	Pathogenic
3	98588852	T	G	T98588852G	CPOX	NM_000097.7(CPOX):c.814A>C:p.Asn272His	coding	Benign
3	98590677	T	C	T98590677C	CPOX	NM_000097.7(CPOX):c.766A>G:p.Thr256Ala	coding	Benign
3	98590726	A	T	A98590726T	CPOX	NM_000097.7(CPOX):c.717T>A:p.Cys239Ter	coding	Pathogenic
3	98590727	C	T	C98590727T	CPOX	NM_000097.7(CPOX):c.716G>A:p.Cys239Tyr	coding	Benign
3	98591061	T	C	T98591061C	CPOX	NM_000097.7(CPOX):c.651A>G:p.Glu217=	coding	Benign/Likely_benign
3	98591089	G	A	G98591089A	CPOX	NM_000097.7(CPOX):c.623C>T:p.Ser208Phe	coding	Pathogenic
3	98591100	C	T	C98591100T	CPOX	NM_000097.7(CPOX):c.612G>A:p.Gly204=	coding	Benign/Likely_benign
3	98591158	G	A	G98591158A	CPOX	NM_000097.7(CPOX):c.557-3C>T	noncoding	Benign
3	98592940	C	T	C98592940T	CPOX	NM_000097.7(CPOX):c.556+9G>A	noncoding	Benign
3	98592995	T	C	T98592995C	CPOX	NM_000097.7(CPOX):c.510A>G:p.Val170=	coding	Benign
3	98593027	G	A	G98593027A	CPOX	NM_000097.7(CPOX):c.478C>T:p.Gln160Ter	coding	Pathogenic
3	98593168	G	A	G98593168A	CPOX	NM_000097.7(CPOX):c.337C>T:p.Leu113=	coding	Benign
3	98593206	T	A	T98593206A	CPOX	NM_000097.7(CPOX):c.299A>T:p.Glu100Val	coding	Benign
3	98593221	T	C	T98593221C	CPOX	NM_000097.7(CPOX):c.284A>G:p.His95Arg	coding	Benign
3	98593253	C	T	C98593253T	CPOX	NM_000097.7(CPOX):c.252G>A:p.Gly84=	coding	Benign
3	98593283	C	T	C98593283T	CPOX	NM_000097.7(CPOX):c.222G>A:p.Val74=	coding	Benign
3	98593293	C	G	C98593293G	CPOX	NM_000097.7(CPOX):c.212G>C:p.Gly71Ala	coding	Benign
3	98593340	G	A	G98593340A	CPOX	NM_000097.7(CPOX):c.165C>T:p.Gly55=	coding	Benign
3	98593420	G	A	G98593420A	CPOX	NM_000097.7(CPOX):c.85C>T:p.Gln29Ter	coding	Pathogenic
3	98593472	G	A	G98593472A	CPOX	NM_000097.7(CPOX):c.33C>T:p.Gly11=	coding	Benign
3	98593558	G	A	G98593558A	CPOX	NM_000097.7(CPOX):c.-54C>T	noncoding	Benign
3	98593559	C	G	C98593559G	CPOX	NM_000097.7(CPOX):c.-55G>C	noncoding	Benign
3	98593560	C	G	C98593560G	CPOX	NM_000097.7(CPOX):c.-56G>C	noncoding	Benign
3	98817808	T	C	T98817808C	DCBLD2	NM_080927.4(DCBLD2):c.1173A>G:p.Lys391=	coding	Benign
3	99795506	C	T	C99795506T	COL8A1	NM_020351.4(COL8A1):c.1605C>T:p.Pro535=	coding	Benign
3	100279642	T	G	T100279642G	TBC1D23	NM_001199198.3(TBC1D23):c.54-7T>G	noncoding	Benign
3	100283761	C	G	C100283761G	TBC1D23	NM_001199198.3(TBC1D23):c.426C>G:p.Arg142=	coding	Benign
3	100295302	A	G	A100295302G	TBC1D23	NM_001199198.3(TBC1D23):c.726A>G:p.Lys242=	coding	Benign
3	100316188	G	A	G100316188A	TBC1D23	NM_001199198.3(TBC1D23):c.1687+1G>A	coding	Pathogenic
3	100316188	G	C	G100316188C	TBC1D23	NM_001199198.3(TBC1D23):c.1687+1G>C	coding	Pathogenic
3	100316189	T	G	T100316189G	TBC1D23	NM_001199198.3(TBC1D23):c.1687+2T>G	noncoding	Pathogenic
3	100323623	C	G	C100323623G	TBC1D23	NM_001199198.3(TBC1D23):c.2055C>G:p.Ala685=	coding	Benign
3	100377852	A	G	A100377852G	TOMM70	NM_014820.5(TOMM70):c.945T>C:p.Ser315=	coding	Benign
3	100609889	G	C	G100609889C	ADGRG7	NM_032787.3(ADGRG7):c.33G>C:p.Val11=	coding	Benign
3	100655966	G	A	G100655966A	ADGRG7	NM_032787.3(ADGRG7):c.1794G>A:p.Gln598=	coding	Benign
3	100694798	G	A	G100694798A	ADGRG7	NM_032787.3(ADGRG7):c.2191G>A:p.Ala731Thr	coding	Benign
3	100694874	G	A	G100694874A	ADGRG7	NM_032787.3(ADGRG7):c.2267G>A:p.Arg756His	coding	Benign
3	100709442	G	T	G100709442T	TFG	NM_001007565.2(TFG):c.-44+11G>T	noncoding	Benign
3	100709616	G	C	G100709616C	TFG	NM_006070.6(TFG):c.-149G>C	noncoding	Benign
3	100714131	C	T	C100714131T	TFG	NM_006070.6(TFG):c.184+262C>T	noncoding	Benign
3	100719965	T	C	T100719965C	TFG	NM_006070.6(TFG):c.185-10T>C	noncoding	Benign
3	100720048	G	T	G100720048T	TFG	NM_006070.6(TFG):c.258G>T:p.Leu86=	coding	Benign/Likely_benign
3	100728474	C	G	C100728474G	TFG	NM_006070.6(TFG):c.269-238C>G	noncoding	Benign
3	100728572	T	A	T100728572A	TFG	NM_006070.6(TFG):c.269-140T>A	noncoding	Benign
3	100728759	C	T	C100728759T	TFG	NM_006070.6(TFG):c.316C>T:p.Arg106Cys	coding	Pathogenic
3	100728865	C	G	C100728865G	TFG	NM_006070.6(TFG):c.415+7C>G	noncoding	Benign
3	100728874	A	G	A100728874G	TFG	NM_006070.6(TFG):c.415+16A>G	noncoding	Benign
3	100732499	T	C	T100732499C	TFG	NM_006070.6(TFG):c.416-9T>C	noncoding	Benign
3	100732644	G	A	G100732644A	TFG	NM_006070.6(TFG):c.552G>A:p.Ala184=	coding	Benign
3	100732936	T	C	T100732936C	TFG	NM_006070.6(TFG):c.580+264T>C	noncoding	Benign
3	100736295	T	C	T100736295C	TFG	NM_006070.6(TFG):c.581-281T>C	noncoding	Benign
3	100736589	T	G	T100736589G	TFG	NM_006070.6(TFG):c.594T>G:p.Ala198=	coding	Benign
3	100736658	C	A	C100736658A	TFG	NM_006070.6(TFG):c.663C>A:p.Gly221=	coding	Benign
3	100736985	G	C	G100736985C	TFG	NM_006070.6(TFG):c.721+269G>C	noncoding	Benign
3	100736986	A	G	A100736986G	TFG	NM_006070.6(TFG):c.721+270A>G	noncoding	Benign
3	100744825	G	T	G100744825T	TFG	NM_006070.6(TFG):c.722-8G>T	noncoding	Benign
3	100744917	G	T	G100744917T	TFG	NM_006070.6(TFG):c.806G>T:p.Gly269Val	coding	Pathogenic
3	100745140	T	C	T100745140C	TFG	NM_006070.6(TFG):c.820+209T>C	noncoding	Benign
3	100748174	T	C	T100748174C	TFG	NM_006070.6(TFG):c.846T>C:p.Pro282=	coding	Benign
3	100748182	C	T	C100748182T	TFG	NM_006070.6(TFG):c.854C>T:p.Pro285Leu	coding	Pathogenic/Likely_pathogenic
3	100748273	G	A	G100748273A	TFG	NM_006070.6(TFG):c.945G>A:p.Pro315=	coding	Benign
3	100748418	A	C	A100748418C	TFG	NM_006070.6(TFG):c.1090A>C:p.Thr364Pro	coding	Benign
3	101222848	A	C	A101222848C	IMPG2	NM_016247.4(IMPG2):c.*4121T>G	noncoding	Benign
3	101223189	A	T	A101223189T	IMPG2	NM_016247.4(IMPG2):c.*3780T>A	noncoding	Benign
3	101224052	C	T	C101224052T	IMPG2	NM_016247.4(IMPG2):c.*2917G>A	noncoding	Benign
3	101224691	G	C	G101224691C	IMPG2	NM_016247.4(IMPG2):c.*2278C>G	noncoding	Benign
3	101225232	A	G	A101225232G	IMPG2	NM_016247.4(IMPG2):c.*1737T>C	noncoding	Benign
3	101225380	T	C	T101225380C	IMPG2	NM_016247.4(IMPG2):c.*1589A>G	noncoding	Benign
3	101226088	A	G	A101226088G	IMPG2	NM_016247.4(IMPG2):c.*881T>C	noncoding	Benign
3	101226401	G	T	G101226401T	IMPG2	NM_016247.4(IMPG2):c.*568C>A	noncoding	Benign
3	101226589	G	T	G101226589T	IMPG2	NM_016247.4(IMPG2):c.*380C>A	noncoding	Benign
3	101230998	G	A	G101230998A	IMPG2	NM_016247.4(IMPG2):c.3381C>T:p.Leu1127=	coding	Benign
3	101231117	G	A	G101231117A	IMPG2	NM_016247.4(IMPG2):c.3262C>T:p.Arg1088Ter	coding	Pathogenic/Likely_pathogenic
3	101232784	C	A	C101232784A	IMPG2	NM_016247.4(IMPG2):c.3230G>T:p.Cys1077Phe	coding	Pathogenic
3	101242820	G	A	G101242820A	IMPG2	NM_016247.4(IMPG2):c.2890C>T:p.Arg964Ter	coding	Pathogenic
3	101243615	G	A	G101243615A	IMPG2	NM_016247.4(IMPG2):c.2716C>T:p.Arg906Ter	coding	Pathogenic
3	101244057	C	T	C101244057T	IMPG2	NM_016247.4(IMPG2):c.2274G>A:p.Trp758Ter	coding	Pathogenic/Likely_pathogenic
3	101244310	G	A	G101244310A	IMPG2	NM_016247.4(IMPG2):c.2021C>T:p.Thr674Ile	coding	Benign
3	101244423	A	G	A101244423G	IMPG2	NM_016247.4(IMPG2):c.1908T>C:p.Asp636=	coding	Benign/Likely_benign
3	101244529	A	T	A101244529T	IMPG2	NM_016247.4(IMPG2):c.1802T>A:p.Leu601Ter	coding	Pathogenic
3	101244651	A	T	A101244651T	IMPG2	NM_016247.4(IMPG2):c.1680T>A:p.Tyr560Ter	coding	Pathogenic
3	101246107	T	C	T101246107C	IMPG2	NM_016247.4(IMPG2):c.1240-2A>G	noncoding	Pathogenic
3	101257542	C	T	C101257542T	IMPG2	NM_016247.4(IMPG2):c.1140G>A:p.Leu380=	coding	Benign
3	101257595	G	A	G101257595A	IMPG2	NM_016247.4(IMPG2):c.1087C>T:p.Gln363Ter	coding	Pathogenic
3	101269574	C	A	C101269574A	IMPG2	NM_016247.4(IMPG2):c.829-1G>T	coding	Pathogenic/Likely_pathogenic
3	101275653	C	T	C101275653T	IMPG2	NM_016247.4(IMPG2):c.666+10G>A	noncoding	Benign
3	101275694	G	C	G101275694C	IMPG2	NM_016247.4(IMPG2):c.635C>G:p.Ser212Ter	coding	Pathogenic
3	101291499	A	C	A101291499C	IMPG2	NM_016247.4(IMPG2):c.513T>G:p.Tyr171Ter	coding	Pathogenic/Likely_pathogenic
3	101304192	C	T	C101304192T	IMPG2	NM_016247.4(IMPG2):c.455G>A:p.Gly152Asp	coding	Pathogenic
3	101304268	G	A	G101304268A	IMPG2	NM_016247.4(IMPG2):c.379C>T:p.Arg127Ter	coding	Pathogenic
3	101320286	A	T	A101320286T	IMPG2	NM_016247.4(IMPG2):c.85+2T>A	noncoding	Pathogenic
3	101343883	C	A	C101343883A	SENP7	NM_020654.5(SENP7):c.1909G>T:p.Asp637Tyr	coding	Benign
3	101367885	T	C	T101367885C	SENP7	NM_020654.5(SENP7):c.923A>G:p.Asn308Ser	coding	Benign
3	101372080	T	A	T101372080A	SENP7	NM_020654.5(SENP7):c.724A>T:p.Thr242Ser	coding	Benign
3	101372081	C	A	C101372081A	SENP7	NM_020654.5(SENP7):c.723G>T:p.Gln241His	coding	Benign
3	101417673	T	C	T101417673C	SENP7	NM_020654.5(SENP7):c.402A>G:p.Ser134=	coding	Benign
3	101458949	T	G	T101458949G	SENP7	NM_020654.5(SENP7):c.284+6A>C	noncoding	Benign
3	101564948	C	G	C101564948G	TRMT10C	NM_017819.4(TRMT10C):c.167C>G:p.Pro56Arg	coding	Benign
3	101565273	G	C	G101565273C	TRMT10C	NM_017819.4(TRMT10C):c.492G>C:p.Lys164Asn	coding	Benign/Likely_benign
3	101565323	G	T	G101565323T	TRMT10C	NM_017819.4(TRMT10C):c.542G>T:p.Arg181Leu	coding	Pathogenic
3	101565595	A	G	A101565595G	TRMT10C	NM_017819.4(TRMT10C):c.814A>G:p.Thr272Ala	coding	Pathogenic
3	101574253	A	G	A101574253G	PCNP	NM_020357.3(PCNP):c.38A>G:p.Lys13Arg	coding	Benign
3	101590212	T	C	T101590212C	PCNP	NM_020357.3(PCNP):c.355-3T>C	noncoding	Benign
3	101652500	A	C	A101652500C	ZBTB11	NM_014415.4(ZBTB11):c.2640T>G:p.His880Gln	coding	Pathogenic
3	101656110	G	A	G101656110A	ZBTB11	NM_014415.4(ZBTB11):c.2185C>T:p.His729Tyr	coding	Pathogenic
3	101726726	G	A	G101726726A	CEP97	NM_024548.4(CEP97):c.176G>A:p.Arg59Gln	coding	Benign
3	101764975	C	T	C101764975T	CEP97	NM_024548.4(CEP97):c.2022C>T:p.Ser674=	coding	Benign
3	101816828	G	C	G101816828C	NXPE3	NM_145037.4(NXPE3):c.956G>C:p.Gly319Ala	coding	Benign
3	102477003	T	A	T102477003A	ZPLD1	NM_175056.2(ZPLD1):c.1091-9T>A	noncoding	Benign
3	105524357	C	T	C105524357T	ALCAM	NM_001627.4(ALCAM):c.243C>T:p.Asp81=	coding	Benign
3	105524365	C	T	C105524365T	ALCAM	NM_001627.4(ALCAM):c.251C>T:p.Pro84Leu	coding	Benign
3	105534787	T	C	T105534787C	ALCAM	NM_001627.4(ALCAM):c.672T>C:p.Tyr224=	coding	Benign
3	105540006	G	A	G105540006A	ALCAM	NM_001627.4(ALCAM):c.762G>A:p.Leu254=	coding	Benign
3	105545311	G	T	G105545311T	ALCAM	NM_001627.4(ALCAM):c.1080G>T:p.Arg360Ser	coding	Benign
3	105547511	C	T	C105547511T	ALCAM	NM_001627.4(ALCAM):c.1362C>T:p.Ser454=	coding	Benign
3	105552160	C	T	C105552160T	ALCAM	NM_001627.4(ALCAM):c.1524C>T:p.His508=	coding	Benign
3	105685454	C	T	C105685454T	CBLB	NM_170662.5(CBLB):c.2067G>A:p.Pro689=	coding	Benign
3	105693539	C	T	C105693539T	CBLB	NM_170662.5(CBLB):c.2009G>A:p.Arg670Gln	coding	Benign
3	105702188	C	G	C105702188G	CBLB	NM_170662.5(CBLB):c.1865G>C:p.Ser622Thr	coding	Benign
3	105734051	A	G	A105734051G	CBLB	NM_170662.5(CBLB):c.1161T>C:p.Pro387=	coding	Benign
3	107747993	C	T	C107747993T	BBX	NM_001142568.3(BBX):c.779C>T:p.Ala260Val	coding	Benign
3	107773045	G	A	G107773045A	BBX	NM_001142568.3(BBX):c.1324G>A:p.Ala442Thr	coding	Benign
3	107791303	A	G	A107791303G	BBX	NM_001142568.3(BBX):c.2353+4A>G	noncoding	Benign
3	107801219	C	T	C107801219T	BBX	NM_001142568.3(BBX):c.2676C>T:p.Ala892=	coding	Benign
3	108162535	T	C	T108162535C	IFT57	NM_018010.4(IFT57):c.1232A>G:p.Asn411Ser	coding	Benign
3	108165455	C	T	C108165455T	IFT57	NM_018010.4(IFT57):c.1020G>A:p.Thr340=	coding	Benign
3	108191521	C	T	C108191521T	IFT57	NM_018010.4(IFT57):c.777G>A:p.Lys259=	coding	Pathogenic
3	108206655	G	A	G108206655A	IFT57	NM_018010.4(IFT57):c.627C>T:p.Asn209=	coding	Benign
3	108218585	A	G	A108218585G	IFT57	NM_018010.4(IFT57):c.444T>C:p.Leu148=	coding	Benign
3	108219425	G	A	G108219425A	IFT57	NM_018010.4(IFT57):c.360C>T:p.Ser120=	coding	Benign
3	108222161	G	C	G108222161C	IFT57	NM_018010.4(IFT57):c.162C>G:p.Leu54=	coding	Benign
3	108222320	C	A	C108222320A	IFT57	NM_018010.4(IFT57):c.3G>T:p.Met1Ile	coding	Benign
3	108381559	C	A	C108381559A	MYH15	NM_014981.2(MYH15):c.5827G>T:p.Val1943Phe	coding	Benign
3	108383733	T	C	T108383733C	MYH15	NM_014981.2(MYH15):c.5692-4A>G	noncoding	Benign
3	108389002	G	A	G108389002A	MYH15	NM_014981.2(MYH15):c.5563C>T:p.Leu1855Phe	coding	Benign
3	108389081	C	A	C108389081A	MYH15	NM_014981.2(MYH15):c.5491-7G>T	noncoding	Benign
3	108394107	C	T	C108394107T	MYH15	NM_014981.2(MYH15):c.5243G>A:p.Arg1748Gln	coding	Benign
3	108398765	G	A	G108398765A	MYH15	NM_014981.2(MYH15):c.5065C>T:p.Arg1689Cys	coding	Benign
3	108408385	T	C	T108408385C	MYH15	NM_014981.2(MYH15):c.4575A>G:p.Thr1525=	coding	Benign
3	108408405	C	A	C108408405A	MYH15	NM_014981.2(MYH15):c.4556-1G>T	coding	Benign
3	108410739	C	T	C108410739T	MYH15	NM_014981.2(MYH15):c.4399G>A:p.Asp1467Asn	coding	Benign
3	108414225	T	C	T108414225C	MYH15	NM_014981.2(MYH15):c.4205+7A>G	noncoding	Benign
3	108414342	G	A	G108414342A	MYH15	NM_014981.2(MYH15):c.4095C>T:p.Val1365=	coding	Benign
3	108428486	A	G	A108428486G	MYH15	NM_014981.2(MYH15):c.3762+6T>C	noncoding	Benign
3	108428663	A	G	A108428663G	MYH15	NM_014981.2(MYH15):c.3591T>C:p.Phe1197=	coding	Benign
3	108428828	G	A	G108428828A	MYH15	NM_014981.2(MYH15):c.3426C>T:p.Ala1142=	coding	Benign
3	108437549	C	A	C108437549A	MYH15	NM_014981.2(MYH15):c.3281+5G>T	noncoding	Benign
3	108441180	C	T	C108441180T	MYH15	NM_014981.2(MYH15):c.2796G>A:p.Lys932=	coding	Benign
3	108444712	C	T	C108444712T	MYH15	NM_014981.2(MYH15):c.2643G>A:p.Gln881=	coding	Benign
3	108456888	A	G	A108456888G	MYH15	NM_014981.2(MYH15):c.2081-5T>C	noncoding	Benign
3	108464714	G	A	G108464714A	MYH15	NM_014981.2(MYH15):c.1715C>T:p.Ser572Leu	coding	Benign
3	108485212	C	T	C108485212T	MYH15	NM_014981.2(MYH15):c.1053G>A:p.Leu351=	coding	Benign
3	108569561	T	C	T108569561C	CIP2A	NM_020890.3(CIP2A):c.941A>G:p.His314Arg	coding	Benign
3	108579600	G	A	G108579600A	CIP2A	NM_020890.3(CIP2A):c.638C>T:p.Ser213Phe	coding	Benign
3	108605423	A	G	A108605423G	DZIP3	NM_014648.4(DZIP3):c.17A>G:p.Asp6Gly	coding	Benign
3	108624534	A	G	A108624534G	DZIP3	NM_014648.4(DZIP3):c.456+10A>G	noncoding	Benign
3	108849207	C	T	C108849207T	TRAT1	NM_016388.4(TRAT1):c.256C>T:p.Pro86Ser	coding	Benign
3	108986890	A	T	A108986890T	MORC1	NM_014429.4(MORC1):c.2247T>A:p.Leu749=	coding	Benign
3	109061989	T	A	T109061989A	MORC1	NM_014429.4(MORC1):c.965A>T:p.Lys322Met	coding	Benign
3	109114395	C	T	C109114395T	MORC1	NM_014429.4(MORC1):c.108G>A:p.Leu36=	coding	Benign
3	109309030	C	T	C109309030T	DPPA2	NM_138815.4(DPPA2):c.392G>A:p.Arg131Gln	coding	Benign
3	111579061	A	C	A111579061C	CD96	NM_005816.5(CD96):c.578A>C:p.Gln193Pro	coding	Benign
3	111585362	C	T	C111585362T	CD96	NM_005816.5(CD96):c.791C>T:p.Thr264Met	coding	Pathogenic
3	111623753	G	A	G111623753A	CD96	NM_005816.5(CD96):c.1181-1G>A	noncoding	Benign
3	111624334	C	A	C111624334A	CD96	NM_005816.5(CD96):c.1251C>A:p.Pro417=	coding	Benign
3	111649767	C	T	C111649767T	CD96	NM_005816.5(CD96):c.1671C>T:p.Asn557=	coding	Benign
3	111884214	G	T	G111884214T	PHLDB2	NM_001134438.2(PHLDB2):c.137G>T:p.Ser46Ile	coding	Benign
3	111884649	C	T	C111884649T	PHLDB2	NM_001134438.2(PHLDB2):c.572C>T:p.Pro191Leu	coding	Benign
3	111913651	C	T	C111913651T	PHLDB2	NM_001134438.2(PHLDB2):c.1668C>T:p.Ser556=	coding	Benign
3	111945344	A	G	A111945344G	PHLDB2	NM_001134438.2(PHLDB2):c.2474A>G:p.Asn825Ser	coding	Benign
3	111949054	G	A	G111949054A	PHLDB2	NM_001134438.2(PHLDB2):c.2610G>A:p.Ala870=	coding	Benign
3	111953975	C	T	C111953975T	PHLDB2	NM_001134438.2(PHLDB2):c.2818C>T:p.Pro940Ser	coding	Benign
3	111954014	C	T	C111954014T	PHLDB2	NM_001134438.2(PHLDB2):c.2857C>T:p.Arg953Trp	coding	Benign
3	111954033	C	T	C111954033T	PHLDB2	NM_001134438.2(PHLDB2):c.2872+4C>T	noncoding	Benign
3	112169290	A	T	A112169290T	SLC9C1	NM_183061.3(SLC9C1):c.2958T>A:p.Phe986Leu	coding	Benign
3	112202262	T	C	T112202262C	SLC9C1	NM_183061.3(SLC9C1):c.2310A>G:p.Lys770=	coding	Benign
3	112609989	G	A	G112609989A	CCDC80	NM_199511.3(CCDC80):c.2414C>T:p.Ala805Val	coding	Benign
3	112638489	G	A	G112638489A	CCDC80	NM_199511.3(CCDC80):c.1417C>T:p.His473Tyr	coding	Benign
3	112639417	G	A	G112639417A	CCDC80	NM_199511.3(CCDC80):c.489C>T:p.Tyr163=	coding	Benign
3	112639639	T	C	T112639639C	CCDC80	NM_199511.3(CCDC80):c.267A>G:p.Thr89=	coding	Benign
3	113013310	C	G	C113013310G	NEPRO	NM_015412.4(NEPRO):c.435G>C:p.Leu145Phe	coding	Pathogenic
3	113013348	C	T	C113013348T	NEPRO	NM_015412.4(NEPRO):c.397G>A:p.Glu133Lys	coding	Benign
3	113014014	G	A	G113014014A	NEPRO	NM_015412.4(NEPRO):c.280C>T:p.Arg94Cys	coding	Pathogenic
3	113279945	A	G	A113279945G	BOC	NM_001301861.2(BOC):c.2145A>G:p.Ala715=	coding	Benign
3	113281113	G	A	G113281113A	BOC	NM_001301861.2(BOC):c.2394G>A:p.Gly798=	coding	Benign
3	113283462	C	G	C113283462G	BOC	NM_001301861.2(BOC):c.2486C>G:p.Pro829Arg	coding	Benign
3	113283568	C	T	C113283568T	BOC	NM_001301861.2(BOC):c.2592C>T:p.Gly864=	coding	Benign
3	113283628	G	C	G113283628C	BOC	NM_001301861.2(BOC):c.2652G>C:p.Lys884Asn	coding	Benign
3	113284415	C	T	C113284415T	BOC	NM_001301861.2(BOC):c.2737C>T:p.Pro913Ser	coding	Benign
3	113291704	T	C	T113291704C	CFAP44	NM_001164496.2(CFAP44):c.5418A>G:p.Arg1806=	coding	Benign
3	113296800	A	T	A113296800T	CFAP44	NM_001164496.2(CFAP44):c.5163T>A:p.Asn1721Lys	coding	Benign
3	113304042	G	A	G113304042A	CFAP44	NM_001164496.2(CFAP44):c.4951C>T:p.Arg1651Trp	coding	Benign
3	113305102	A	C	A113305102C	CFAP44	NM_001164496.2(CFAP44):c.4809T>G:p.Ala1603=	coding	Benign
3	113326478	G	A	G113326478A	CFAP44	NM_001164496.2(CFAP44):c.4483C>T:p.Arg1495Trp	coding	Benign
3	113326638	C	A	C113326638A	CFAP44	NM_001164496.2(CFAP44):c.4323G>T:p.Trp1441Cys	coding	Benign
3	113330342	A	T	A113330342T	CFAP44	NM_001164496.2(CFAP44):c.3942T>A:p.Asp1314Glu	coding	Benign
3	113330369	T	C	T113330369C	CFAP44	NM_001164496.2(CFAP44):c.3915A>G:p.Gly1305=	coding	Benign
3	113330516	A	T	A113330516T	CFAP44	NM_001164496.2(CFAP44):c.3768T>A:p.Ile1256=	coding	Benign
3	113344602	C	T	C113344602T	CFAP44	NM_001164496.2(CFAP44):c.3176G>A:p.Arg1059Gln	coding	Benign
3	113344603	G	A	G113344603A	CFAP44	NM_001164496.2(CFAP44):c.3175C>T:p.Arg1059Ter	coding	Pathogenic
3	113363239	C	T	C113363239T	CFAP44	NM_001164496.2(CFAP44):c.2840G>A:p.Arg947Gln	coding	Benign
3	113366075	T	C	T113366075C	CFAP44	NM_001164496.2(CFAP44):c.2679A>G:p.Leu893=	coding	Benign
3	113373518	G	T	G113373518T	CFAP44	NM_001164496.2(CFAP44):c.2337C>A:p.Phe779Leu	coding	Benign
3	113396528	A	T	A113396528T	CFAP44	NM_001164496.2(CFAP44):c.1769T>A:p.Leu590Gln	coding	Pathogenic
3	113399951	C	T	C113399951T	CFAP44	NM_001164496.2(CFAP44):c.1524G>A:p.Met508Ile	coding	Benign
3	113400632	C	A	C113400632A	CFAP44	NM_001164496.2(CFAP44):c.1387G>T:p.Glu463Ter	coding	Pathogenic
3	113409279	G	A	G113409279A	CFAP44	NM_001164496.2(CFAP44):c.717C>T:p.Ser239=	coding	Benign
3	113420038	A	G	A113420038G	CFAP44	NM_001164496.2(CFAP44):c.549T>C:p.Gly183=	coding	Benign
3	113420116	G	T	G113420116T	CFAP44	NM_001164496.2(CFAP44):c.471C>A:p.Ala157=	coding	Benign
3	113420186	G	C	G113420186C	CFAP44	NM_001164496.2(CFAP44):c.408-7C>G	noncoding	Benign
3	113426150	G	A	G113426150A	CFAP44	NM_001164496.2(CFAP44):c.381C>T:p.Asn127=	coding	Benign
3	113426271	T	A	T113426271A	CFAP44	NM_001164496.2(CFAP44):c.260A>T:p.Gln87Leu	coding	Benign
3	113433599	C	T	C113433599T	CFAP44	NM_001164496.2(CFAP44):c.66G>A:p.Lys22=	coding	Benign
3	113723951	T	C	T113723951C	NAA50	NM_025146.4(NAA50):c.145+8A>G	noncoding	Benign
3	113784227	G	A	G113784227A	ATP6V1A	NM_001690.4(ATP6V1A):c.215G>A:p.Gly72Asp	coding	Pathogenic
3	113784310	G	T	G113784310T	ATP6V1A	NM_001690.4(ATP6V1A):c.298G>T:p.Asp100Tyr	coding	Pathogenic
3	113789819	A	G	A113789819G	ATP6V1A	NM_001690.4(ATP6V1A):c.967A>G:p.Arg323Gly	coding	Pathogenic/Likely_pathogenic
3	113794895	C	T	C113794895T	ATP6V1A	NM_001690.4(ATP6V1A):c.1012C>T:p.Arg338Cys	coding	Pathogenic
3	113794928	G	A	G113794928A	ATP6V1A	NM_001690.4(ATP6V1A):c.1045G>A:p.Asp349Asn	coding	Pathogenic
3	113795090	A	G	A113795090G	ATP6V1A	NM_001690.4(ATP6V1A):c.1112A>G:p.Asp371Gly	coding	Pathogenic
3	113798422	A	G	A113798422G	ATP6V1A	NM_001690.4(ATP6V1A):c.1470A>G:p.Ala490=	coding	Benign
3	114128842	G	A	G114128842A	DRD3	NM_000796.6(DRD3):c.1077C>T:p.His359=	coding	Benign/Likely_benign
3	114131137	T	C	T114131137C	DRD3	NM_000796.6(DRD3):c.987A>G:p.Gln329=	coding	Benign
3	114139503	C	T	C114139503T	DRD3	NM_000796.6(DRD3):c.720G>A:p.Gln240=	coding	Benign
3	114157428	G	A	G114157428A	DRD3	NM_000796.6(DRD3):c.383+2327C>T	noncoding	Benign
3	114171942	T	C	T114171942C	DRD3	NM_000796.6(DRD3):c.51A>G:p.Ala17=	coding	Benign
3	114171968	C	T	C114171968T	DRD3	NM_000796.6(DRD3):c.25G>A:p.Gly9Ser	coding	Benign/Likely_benign
3	114178954	C	T	C114178954T	DRD3	NM_000796.6(DRD3):c.-333G>A	noncoding	Benign
3	114236301	A	G	A114236301G	ZNF80	NM_007136.4(ZNF80):c.774T>C:p.Ser258=	coding	Benign
3	114236519	C	T	C114236519T	ZNF80	NM_007136.4(ZNF80):c.556G>A:p.Glu186Lys	coding	Benign
3	114236765	G	A	G114236765A	ZNF80	NM_007136.4(ZNF80):c.310C>T:p.Pro104Ser	coding	Benign
3	114236879	G	A	G114236879A	ZNF80	NM_007136.4(ZNF80):c.196C>T:p.Arg66Ter	coding	Benign
3	114237043	C	T	C114237043T	ZNF80	NM_007136.4(ZNF80):c.32G>A:p.Gly11Asp	coding	Benign
3	114339032	G	A	G114339032A	ZBTB20	NM_001348803.2(ZBTB20):c.2199C>T:p.His733=	coding	Benign
3	114339153	G	A	G114339153A	ZBTB20	NM_001348803.2(ZBTB20):c.2078C>T:p.Ala693Val	coding	Benign
3	114339161	G	T	G114339161T	ZBTB20	NM_001348803.2(ZBTB20):c.2070C>A:p.Thr690=	coding	Benign
3	114339276	T	C	T114339276C	ZBTB20	NM_001164342.2(ZBTB20):c.1955A>G:p.His652Arg	coding	Pathogenic
3	114339292	T	G	T114339292G	ZBTB20	NM_001164342.2(ZBTB20):c.1939A>C:p.Ser647Arg	coding	Pathogenic
3	114339315	C	T	C114339315T	ZBTB20	NM_001348800.3(ZBTB20):c.1916G>A:p.Cys639Tyr	coding	Pathogenic
3	114339355	C	T	C114339355T	ZBTB20	NM_001164342.2(ZBTB20):c.1876G>A:p.Val626Met	coding	Pathogenic
3	114339362	C	G	C114339362G	ZBTB20	NM_001164342.2(ZBTB20):c.1869G>C:p.Lys623Asn	coding	Pathogenic
3	114339369	A	G	A114339369G	ZBTB20	NM_001164342.2(ZBTB20):c.1862T>C:p.Leu621Pro	coding	Pathogenic/Likely_pathogenic
3	114339370	G	A	G114339370A	ZBTB20	NM_001164342.2(ZBTB20):c.1861C>T:p.Leu621Phe	coding	Pathogenic
3	114339394	G	A	G114339394A	ZBTB20	NM_001164342.2(ZBTB20):c.1837C>T:p.Arg613Cys	coding	Pathogenic
3	114339414	T	G	T114339414G	ZBTB20	NM_001348803.2(ZBTB20):c.1817A>C:p.His606Pro	coding	Pathogenic
3	114339420	T	G	T114339420G	ZBTB20	NM_001164342.2(ZBTB20):c.1811A>C:p.Lys604Thr	coding	Pathogenic
3	114339426	C	G	C114339426G	ZBTB20	NM_001164342.2(ZBTB20):c.1805G>C:p.Gly602Ala	coding	Pathogenic
3	114350276	G	A	G114350276A	ZBTB20	NM_001164342.2(ZBTB20):c.1802C>T:p.Thr601Ile	coding	Pathogenic
3	114350278	G	C	G114350278C	ZBTB20	NM_015642.6(ZBTB20):c.1581C>G:p.His527Gln	coding	Pathogenic
3	114350291	T	C	T114350291C	ZBTB20	NM_001164342.2(ZBTB20):c.1787A>G:p.His596Arg	coding	Pathogenic
3	114350292	G	A	G114350292A	ZBTB20	NM_001164342.2(ZBTB20):c.1786C>T:p.His596Tyr	coding	Pathogenic
3	114350307	G	C	G114350307C	ZBTB20	NM_001164342.2(ZBTB20):c.1771C>G:p.Gln591Glu	coding	Pathogenic
3	114350310	T	G	T114350310G	ZBTB20	NM_001164342.2(ZBTB20):c.1768A>C:p.Lys590Gln	coding	Pathogenic
3	114350318	A	C	A114350318C	ZBTB20	NM_001164342.2(ZBTB20):c.1760T>G:p.Phe587Cys	coding	Pathogenic
3	114350674	C	T	C114350674T	ZBTB20	NM_001348803.2(ZBTB20):c.1404G>A:p.Gln468=	coding	Benign
3	114350712	C	G	C114350712G	ZBTB20	NM_001348803.2(ZBTB20):c.1366G>C:p.Val456Leu	coding	Benign
3	114350760	C	T	C114350760T	ZBTB20	NM_001164342.2(ZBTB20):c.1318G>A:p.Glu440Lys	coding	Benign/Likely_benign
3	114350828	G	C	G114350828C	ZBTB20	NM_001348803.2(ZBTB20):c.1250C>G:p.Ala417Gly	coding	Benign
3	114350914	G	C	G114350914C	ZBTB20	NM_001164343.2(ZBTB20):c.945C>G:p.Asp315Glu	coding	Benign/Likely_benign
3	114351343	C	G	C114351343G	ZBTB20	NM_001348803.2(ZBTB20):c.735G>C:p.Ser245=	coding	Benign
3	114380262	T	C	T114380262C	ZBTB20	NM_001348803.2(ZBTB20):c.154A>G:p.Thr52Ala	coding	Benign
3	115663790	C	T	C115663790T	GAP43	NM_002045.4(GAP43):c.31-12223C>T	coding	Benign
3	119295013	C	T	C119295013T	ARHGAP31	NM_020754.4(ARHGAP31):c.100+9C>T	noncoding	Benign
3	119365424	C	T	C119365424T	ARHGAP31	NM_020754.4(ARHGAP31):c.203+6C>T	noncoding	Benign
3	119380897	T	G	T119380897G	ARHGAP31	NM_020754.4(ARHGAP31):c.349-7T>G	noncoding	Benign/Likely_benign
3	119380939	G	C	G119380939C	ARHGAP31	NM_020754.4(ARHGAP31):c.384G>C:p.Leu128=	coding	Benign
3	119382285	A	G	A119382285G	ARHGAP31	NM_020754.4(ARHGAP31):c.432-7A>G	noncoding	Benign
3	119383080	G	T	G119383080T	ARHGAP31	NM_020754.4(ARHGAP31):c.540-4G>T	noncoding	Benign
3	119383198	C	T	C119383198T	ARHGAP31	NM_020754.4(ARHGAP31):c.654C>T:p.Asn218=	coding	Benign
3	119390922	C	T	C119390922T	ARHGAP31	NM_020754.4(ARHGAP31):c.820C>T:p.Pro274Ser	coding	Benign/Likely_benign
3	119393521	T	C	T119393521C	ARHGAP31	NM_020754.4(ARHGAP31):c.936T>C:p.Arg312=	coding	Benign
3	119402243	C	A	C119402243A	ARHGAP31	NM_020754.4(ARHGAP31):c.1491C>A:p.Arg497=	coding	Benign
3	119402285	A	G	A119402285G	ARHGAP31	NM_020754.4(ARHGAP31):c.1533A>G:p.Thr511=	coding	Benign
3	119402349	G	A	G119402349A	ARHGAP31	NM_020754.4(ARHGAP31):c.1597G>A:p.Gly533Arg	coding	Benign
3	119402366	A	G	A119402366G	ARHGAP31	NM_020754.4(ARHGAP31):c.1614A>G:p.Glu538=	coding	Benign
3	119402370	A	G	A119402370G	ARHGAP31	NM_020754.4(ARHGAP31):c.1618A>G:p.Lys540Glu	coding	Benign
3	119409550	C	T	C119409550T	ARHGAP31	NM_020754.4(ARHGAP31):c.1700C>T:p.Pro567Leu	coding	Benign
3	119409781	A	G	A119409781G	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+5A>G	noncoding	Benign
3	119413965	C	T	C119413965T	ARHGAP31	NM_020754.4(ARHGAP31):c.2036C>T:p.Thr679Ile	coding	Benign
3	119413976	C	T	C119413976T	ARHGAP31	NM_020754.4(ARHGAP31):c.2047C>T:p.Gln683Ter	coding	Pathogenic
3	119414111	C	T	C119414111T	ARHGAP31	NM_020754.4(ARHGAP31):c.2182C>T:p.Gln728Ter	coding	Pathogenic
3	119414273	C	A	C119414273A	ARHGAP31	NM_020754.4(ARHGAP31):c.2344C>A:p.Pro782Thr	coding	Benign/Likely_benign
3	119414288	C	G	C119414288G	ARHGAP31	NM_020754.4(ARHGAP31):c.2359C>G:p.Pro787Ala	coding	Benign/Likely_benign
3	119414293	A	T	A119414293T	ARHGAP31	NM_020754.4(ARHGAP31):c.2364A>T:p.Pro788=	coding	Benign/Likely_benign
3	119414336	G	A	G119414336A	ARHGAP31	NM_020754.4(ARHGAP31):c.2407G>A:p.Gly803Ser	coding	Benign
3	119414449	C	G	C119414449G	ARHGAP31	NM_020754.4(ARHGAP31):c.2520C>G:p.Thr840=	coding	Benign
3	119415185	G	A	G119415185A	ARHGAP31	NM_020754.4(ARHGAP31):c.3256G>A:p.Ala1086Thr	coding	Benign
3	119415387	A	G	A119415387G	ARHGAP31	NM_020754.4(ARHGAP31):c.3458A>G:p.Asp1153Gly	coding	Benign
3	119416025	G	A	G119416025A	ARHGAP31	NM_020754.4(ARHGAP31):c.4096G>A:p.Val1366Met	coding	Benign
3	119416039	G	A	G119416039A	ARHGAP31	NM_020754.4(ARHGAP31):c.4110G>A:p.Lys1370=	coding	Benign
3	119416061	A	G	A119416061G	ARHGAP31	NM_020754.4(ARHGAP31):c.4132A>G:p.Ser1378Gly	coding	Benign
3	119469032	G	A	G119469032A	POGLUT1	NM_152305.3(POGLUT1):c.11G>A:p.Trp4Ter	coding	Pathogenic
3	119469884	A	C	A119469884C	POGLUT1	NM_152305.3(POGLUT1):c.150A>C:p.Ser50=	coding	Benign
3	119486846	C	T	C119486846T	POGLUT1	NM_152305.3(POGLUT1):c.652C>T:p.Arg218Ter	coding	Pathogenic
3	119486893	T	G	T119486893G	POGLUT1	NM_152305.3(POGLUT1):c.699T>G:p.Asp233Glu	coding	Pathogenic
3	119490549	A	C	A119490549C	POGLUT1	NM_152305.3(POGLUT1):c.798-2A>C	noncoding	Pathogenic
3	119490588	C	T	C119490588T	POGLUT1	NM_152305.3(POGLUT1):c.835C>T:p.Arg279Trp	coding	Pathogenic
3	119492370	T	C	T119492370C	POGLUT1	NM_152305.3(POGLUT1):c.1111T>C:p.Ser371Pro	coding	Benign
3	119503556	C	T	C119503556T	TIMMDC1	NM_016589.4(TIMMDC1):c.385C>T:p.Arg129Ter	coding	Pathogenic
3	119515865	A	G	A119515865G	TIMMDC1	NM_016589.4(TIMMDC1):c.597-1340A>G	noncoding	Pathogenic
3	119517295	T	C	T119517295C	TIMMDC1	NM_016589.4(TIMMDC1):c.687T>C:p.His229=	coding	Benign
3	119537173	G	A	G119537173A	CD80	NM_005191.4(CD80):c.664C>T:p.His222Tyr	coding	Benign
3	119544671	G	C	G119544671C	CD80	NM_005191.4(CD80):c.297C>G:p.Leu99=	coding	Benign
3	119618071	C	T	C119618071T	PLA1A	NM_015900.4(PLA1A):c.807C>T:p.Ser269=	coding	Benign
3	119619597	G	A	G119619597A	PLA1A	NM_015900.4(PLA1A):c.957G>A:p.Pro319=	coding	Benign
3	119628713	A	G	A119628713G	PLA1A	NM_015900.4(PLA1A):c.1134A>G:p.Gln378=	coding	Benign
3	119629451	A	G	A119629451G	PLA1A	NM_015900.4(PLA1A):c.1354A>G:p.Lys452Glu	coding	Benign
3	119703222	G	C	G119703222C	CFAP91	NM_033364.4(CFAP91):c.124G>C:p.Asp42His	coding	Pathogenic
3	119715744	G	A	G119715744A	CFAP91	NM_033364.4(CFAP91):c.682+1G>A	coding	Pathogenic
3	119810178	C	T	C119810178T	NR1I2	NM_003889.3(NR1I2):c.315C>T:p.Ser105=	coding	Benign
3	119811576	C	T	C119811576T	NR1I2	NM_003889.3(NR1I2):c.369C>T:p.Ala123=	coding	Benign
3	119811699	T	C	T119811699C	NR1I2	NM_003889.3(NR1I2):c.492T>C:p.Thr164=	coding	Benign
3	119812862	C	T	C119812862T	NR1I2	NM_003889.3(NR1I2):c.696C>T:p.Gly232=	coding	Benign
3	119815018	G	A	G119815018A	NR1I2	NM_003889.3(NR1I2):c.834G>A:p.Gly278=	coding	Benign
3	119843259	C	T	C119843259T	GSK3B	NM_001146156.2(GSK3B):c.1191G>A:p.Ala397=	coding	Benign
3	119863444	A	G	A119863444G	GSK3B	NM_001146156.2(GSK3B):c.1071T>C:p.Pro357=	coding	Benign
3	119923394	C	T	C119923394T	GSK3B	NM_001146156.2(GSK3B):c.456G>A:p.Thr152=	coding	Benign
3	120402809	G	A	G120402809A	FSTL1	NM_007085.5(FSTL1):c.804C>T:p.Asp268=	coding	Benign
3	120628497	C	T	C120628497T	HGD	NM_000187.4(HGD):c.1221G>A:p.Ala407=	coding	Benign/Likely_benign
3	120628527	T	G	T120628527G	HGD	NM_000187.4(HGD):c.1191A>C:p.Ala397=	coding	Benign
3	120633156	A	G	A120633156G	HGD	NM_000187.4(HGD):c.1179T>C:p.Asp393=	coding	Benign
3	120633223	T	C	T120633223C	HGD	NM_000187.4(HGD):c.1112A>G:p.His371Arg	coding	Pathogenic
3	120633233	T	C	T120633233C	HGD	NM_000187.4(HGD):c.1102A>G:p.Met368Val	coding	Pathogenic
3	120633257	C	G	C120633257G	HGD	NM_000187.4(HGD):c.1078G>C:p.Gly360Arg	coding	Pathogenic
3	120633296	G	A	G120633296A	HGD	NM_000187.4(HGD):c.1039C>T:p.Arg347Ter	coding	Pathogenic
3	120638471	C	A	C120638471A	HGD	NM_000187.4(HGD):c.990G>T:p.Arg330Ser	coding	Pathogenic
3	120638492	C	T	C120638492T	HGD	NM_000187.4(HGD):c.969G>A:p.Gly323=	coding	Benign
3	120638562	A	C	A120638562C	HGD	NM_000187.4(HGD):c.899T>G:p.Val300Gly	coding	Pathogenic/Likely_pathogenic
3	120641660	C	T	C120641660T	HGD	NM_000187.4(HGD):c.808G>A:p.Gly270Arg	coding	Pathogenic
3	120644382	G	T	G120644382T	HGD	NM_000187.4(HGD):c.711C>A:p.Arg237=	coding	Benign
3	120644405	G	A	G120644405A	HGD	NM_000187.4(HGD):c.688C>T:p.Pro230Ser	coding	Pathogenic
3	120644528	T	C	T120644528C	HGD	NM_000187.4(HGD):c.650-85A>G	noncoding	Benign
3	120647020	C	T	C120647020T	HGD	NM_000187.4(HGD):c.502G>A:p.Glu168Lys	coding	Pathogenic
3	120647041	C	T	C120647041T	HGD	NM_000187.4(HGD):c.481G>A:p.Gly161Arg	coding	Pathogenic
3	120647048	C	A	C120647048A	HGD	NM_000187.4(HGD):c.474G>T:p.Pro158=	coding	Benign/Likely_benign
3	120647876	C	G	C120647876G	HGD	NM_000187.4(HGD):c.469+1G>C	noncoding	Pathogenic
3	120650836	G	A	G120650836A	HGD	NM_000187.4(HGD):c.372C>T:p.Asp124=	coding	Benign
3	120650843	G	A	G120650843A	HGD	NM_000187.4(HGD):c.365C>T:p.Ala122Val	coding	Pathogenic/Likely_pathogenic
3	120650848	A	C	A120650848C	HGD	NM_000187.4(HGD):c.360T>G:p.Cys120Trp	coding	Pathogenic
3	120650876	C	T	C120650876T	HGD	NM_000187.4(HGD):c.343-11G>A	noncoding	Benign
3	120652643	C	T	C120652643T	HGD	NM_000187.4(HGD):c.291G>A:p.Trp97Ter	coding	Pathogenic
3	120652655	G	A	G120652655A	HGD	NM_000187.4(HGD):c.283-4C>T	noncoding	Benign
3	120670449	T	G	T120670449G	HGD	NM_000187.4(HGD):c.260A>C:p.Glu87Ala	coding	Benign
3	120670469	T	A	T120670469A	HGD	NM_000187.4(HGD):c.240A>T:p.Gln80His	coding	Benign
3	120670488	T	A	T120670488A	HGD	NM_000187.4(HGD):c.221A>T:p.Glu74Val	coding	Benign
3	120670520	C	A	C120670520A	HGD	NM_000187.4(HGD):c.189G>T:p.Arg63Ser	coding	Pathogenic
3	120674935	C	A	C120674935A	HGD	NM_000187.4(HGD):c.142G>T:p.Ala48Ser	coding	Benign/Likely_benign
3	120674937	G	A	G120674937A	HGD	NM_000187.4(HGD):c.140C>T:p.Ser47Leu	coding	Pathogenic
3	120674948	C	T	C120674948T	HGD	NM_000187.4(HGD):c.129G>A:p.Gln43=	coding	Benign/Likely_benign
3	120675864	C	T	C120675864T	HGD	NM_000187.4(HGD):c.16-1G>A	coding	Pathogenic
3	120682111	T	C	T120682111C	HGD	NM_000187.4(HGD):c.1A>G:p.Met1Val	coding	Pathogenic
3	120781218	C	T	C120781218T	GTF2E1	NM_005513.3(GTF2E1):c.1068C>T:p.Ser356=	coding	Benign
3	121487581	C	A	C121487581A	POLQ	NM_199420.4(POLQ):c.5350G>T:p.Asp1784Tyr	coding	Benign
3	121487680	C	A	C121487680A	POLQ	NM_199420.4(POLQ):c.5251G>T:p.Gly1751Trp	coding	Benign
3	121488236	C	A	C121488236A	POLQ	NM_199420.4(POLQ):c.4695G>T:p.Gln1565His	coding	Benign
3	121488296	G	T	G121488296T	POLQ	NM_199420.4(POLQ):c.4635C>A:p.His1545Gln	coding	Benign
3	121488914	A	G	A121488914G	POLQ	NM_199420.4(POLQ):c.4017T>C:p.Asn1339=	coding	Benign
3	121489764	G	A	G121489764A	POLQ	NM_199420.4(POLQ):c.3167C>T:p.Pro1056Leu	coding	Benign
3	121490040	T	G	T121490040G	POLQ	NM_199420.4(POLQ):c.2891A>C:p.Glu964Ala	coding	Benign
3	121490051	A	G	A121490051G	POLQ	NM_199420.4(POLQ):c.2880T>C:p.Asn960=	coding	Benign
3	121490168	G	A	G121490168A	POLQ	NM_199420.4(POLQ):c.2763C>T:p.His921=	coding	Benign
3	121511952	G	A	G121511952A	POLQ	NM_199420.4(POLQ):c.1546C>T:p.Arg516Cys	coding	Benign
3	121533077	C	T	C121533077T	POLQ	NM_199420.4(POLQ):c.873G>A:p.Pro291=	coding	Benign
3	121537167	G	A	G121537167A	POLQ	NM_199420.4(POLQ):c.673C>T:p.His225Tyr	coding	Benign
3	121626715	C	T	C121626715T	FBXO40	NM_016298.4(FBXO40):c.1935C>T:p.Leu645=	coding	Benign
3	121697966	G	A	G121697966A	GOLGB1	NM_001256486.2(GOLGB1):c.2557C>T:p.Leu853Phe	coding	Benign
3	121770148	C	G	C121770148G	IQCB1	NM_001023570.4(IQCB1):c.*197G>C	noncoding	Benign
3	121772620	G	A	G121772620A	IQCB1	NM_001023570.4(IQCB1):c.1504C>T:p.Arg502Ter	coding	Pathogenic
3	121772659	G	A	G121772659A	IQCB1	NM_001023570.4(IQCB1):c.1465C>T:p.Arg489Ter	coding	Pathogenic
3	121781760	A	G	A121781760G	IQCB1	NM_001023570.4(IQCB1):c.1393T>C:p.Tyr465His	coding	Benign
3	121781772	G	A	G121781772A	IQCB1	NM_001023570.4(IQCB1):c.1381C>T:p.Arg461Ter	coding	Pathogenic
3	121781790	G	A	G121781790A	IQCB1	NM_001023570.4(IQCB1):c.1363C>T:p.Arg455Ter	coding	Pathogenic
3	121781842	T	C	T121781842C	IQCB1	NM_001023570.4(IQCB1):c.1311A>G:p.Lys437=	coding	Benign/Likely_benign
3	121781850	G	A	G121781850A	IQCB1	NM_001023570.4(IQCB1):c.1303C>T:p.Arg435Cys	coding	Benign
3	121781852	C	T	C121781852T	IQCB1	NM_001023570.4(IQCB1):c.1301G>A:p.Cys434Tyr	coding	Benign
3	121788384	A	T	A121788384T	IQCB1	NM_001023570.4(IQCB1):c.1178T>A:p.Ile393Asn	coding	Benign
3	121790112	G	A	G121790112A	IQCB1	NM_001023570.4(IQCB1):c.1090C>T:p.Arg364Ter	coding	Pathogenic
3	121790133	G	A	G121790133A	IQCB1	NM_001023570.4(IQCB1):c.1069C>T:p.Gln357Ter	coding	Pathogenic
3	121790166	C	A	C121790166A	IQCB1	NM_001023570.4(IQCB1):c.1036G>T:p.Glu346Ter	coding	Pathogenic
3	121790208	G	A	G121790208A	IQCB1	NM_001023570.4(IQCB1):c.994C>T:p.Arg332Ter	coding	Pathogenic
3	121797132	C	A	C121797132A	IQCB1	NM_001023570.4(IQCB1):c.862G>T:p.Glu288Ter	coding	Pathogenic
3	121797177	C	A	C121797177A	IQCB1	NM_001023570.4(IQCB1):c.817G>T:p.Glu273Ter	coding	Pathogenic
3	121799150	A	G	A121799150G	IQCB1	NM_001023570.4(IQCB1):c.766+46T>C	noncoding	Benign
3	121799374	A	G	A121799374G	IQCB1	NM_001023570.4(IQCB1):c.588T>C:p.Ser196=	coding	Benign/Likely_benign
3	121799384	C	A	C121799384A	IQCB1	NM_001023570.4(IQCB1):c.588-10G>T	noncoding	Benign
3	121807357	G	A	G121807357A	IQCB1	NM_001023570.4(IQCB1):c.574C>T:p.Leu192=	coding	Benign
3	121807444	C	T	C121807444T	IQCB1	NM_001023570.4(IQCB1):c.488-1G>A	coding	Pathogenic
3	121808979	A	G	A121808979G	IQCB1	NM_001023570.4(IQCB1):c.424T>C:p.Phe142Leu	coding	Benign
3	121826182	T	A	T121826182A	IQCB1	NM_001023570.4(IQCB1):c.264-2A>T	noncoding	Pathogenic
3	121828519	G	A	G121828519A	IQCB1	NM_001023570.4(IQCB1):c.214C>T:p.Arg72Ter	coding	Pathogenic
3	121828680	A	G	A121828680G	IQCB1	NM_001023570.4(IQCB1):c.101-48T>C	noncoding	Benign
3	121835057	A	G	A121835057G	IQCB1	NM_001023570.4(IQCB1):c.-193T>C	noncoding	Benign
3	121872748	T	C	T121872748C	EAF2	NM_018456.6(EAF2):c.696T>C:p.Asn232=	coding	Benign
3	121928549	C	T	C121928549T	SLC15A2	NM_021082.4(SLC15A2):c.1335C>T:p.Ser445=	coding	Benign
3	121993168	C	T	C121993168T	ILDR1	NM_001199799.2(ILDR1):c.1581G>A:p.Gly527=	coding	Benign/Likely_benign
3	121993204	A	C	A121993204C	ILDR1	NM_001199799.2(ILDR1):c.1545T>G:p.Leu515=	coding	Benign
3	121993251	G	A	G121993251A	ILDR1	NM_001199799.2(ILDR1):c.1498C>T:p.His500Tyr	coding	Benign
3	121993365	G	A	G121993365A	ILDR1	NM_001199799.2(ILDR1):c.1384C>T:p.Arg462Ter	coding	Pathogenic
3	121993423	G	T	G121993423T	ILDR1	NM_001199799.2(ILDR1):c.1326C>A:p.Arg442=	coding	Benign/Likely_benign
3	121993424	C	T	C121993424T	ILDR1	NM_001199799.2(ILDR1):c.1325G>A:p.Arg442His	coding	Benign
3	121993451	C	T	C121993451T	ILDR1	NM_001199799.2(ILDR1):c.1298G>A:p.Arg433Gln	coding	Benign
3	121993511	A	G	A121993511G	ILDR1	NM_001199799.2(ILDR1):c.1238T>C:p.Ile413Thr	coding	Benign
3	121993587	A	G	A121993587G	ILDR1	NM_001199799.2(ILDR1):c.1162T>C:p.Trp388Arg	coding	Benign
3	121993614	C	A	C121993614A	ILDR1	NM_001199799.2(ILDR1):c.1135G>T:p.Glu379Ter	coding	Pathogenic
3	121993777	G	A	G121993777A	ILDR1	NM_001199799.2(ILDR1):c.972C>T:p.Val324=	coding	Benign/Likely_benign
3	121993807	G	T	G121993807T	ILDR1	NM_001199799.2(ILDR1):c.942C>A:p.Cys314Ter	coding	Pathogenic
3	121993883	A	C	A121993883C	ILDR1	NM_001199799.2(ILDR1):c.866T>G:p.Leu289Trp	coding	Pathogenic
3	121993958	G	C	G121993958C	ILDR1	NM_001199799.2(ILDR1):c.791C>G:p.Pro264Arg	coding	Benign
3	121994145	C	T	C121994145T	ILDR1	NM_001199799.2(ILDR1):c.778+37G>A	noncoding	Benign
3	121994196	G	A	G121994196A	ILDR1	NM_001199799.2(ILDR1):c.764C>T:p.Pro255Leu	coding	Benign
3	121994234	C	T	C121994234T	ILDR1	NM_001199799.2(ILDR1):c.726G>A:p.Ala242=	coding	Benign/Likely_benign
3	122001311	C	A	C122001311A	ILDR1	NM_001199799.2(ILDR1):c.643G>T:p.Glu215Ter	coding	Pathogenic
3	122001371	G	A	G122001371A	ILDR1	NM_001199799.2(ILDR1):c.583C>T:p.Gln195Ter	coding	Pathogenic
3	122006993	G	A	G122006993A	ILDR1	NM_001199799.2(ILDR1):c.227C>T:p.Ala76Val	coding	Benign/Likely_benign
3	122022075	C	T	C122022075T	ILDR1	NM_001199799.2(ILDR1):c.3G>A:p.Met1Ile	coding	Pathogenic
3	122119511	G	A	G122119511A	CD86	NM_175862.5(CD86):c.967G>A:p.Asp323Asn	coding	Benign
3	122254227	T	C	T122254227C	CASR	NM_000388.4(CASR):c.38T>C:p.Leu13Pro	coding	Pathogenic
3	122254262	C	T	C122254262T	CASR	NM_000388.4(CASR):c.73C>T:p.Arg25Ter	coding	Pathogenic/Likely_pathogenic
3	122254267	C	G	C122254267G	CASR	NM_000388.4(CASR):c.78C>G:p.Ala26=	coding	Benign
3	122254274	A	G	A122254274G	CASR	NM_000388.4(CASR):c.85A>G:p.Lys29Glu	coding	Pathogenic
3	122254304	C	G	C122254304G	CASR	NM_000388.4(CASR):c.115C>G:p.Pro39Ala	coding	Pathogenic
3	122254330	A	C	A122254330C	CASR	NM_000388.4(CASR):c.141A>C:p.Lys47Asn	coding	Pathogenic
3	122254353	C	T	C122254353T	CASR	NM_000388.4(CASR):c.164C>T:p.Pro55Leu	coding	Pathogenic
3	122254354	G	A	G122254354A	CASR	NM_000388.4(CASR):c.165G>A:p.Pro55=	coding	Benign/Likely_benign
3	122254355	G	T	G122254355T	CASR	NM_000388.4(CASR):c.166G>T:p.Glu56Ter	coding	Pathogenic
3	122254374	G	T	G122254374T	CASR	NM_000388.4(CASR):c.185G>T:p.Arg62Met	coding	Pathogenic
3	122257080	G	T	G122257080T	CASR	NM_000388.4(CASR):c.186-1G>T	noncoding	Pathogenic
3	122257175	G	T	G122257175T	CASR	NM_000388.4(CASR):c.280G>T:p.Gly94Ter	coding	Pathogenic
3	122257241	G	A	G122257241A	CASR	NM_000388.4(CASR):c.346G>A:p.Ala116Thr	coding	Pathogenic
3	122257249	C	A	C122257249A	CASR	NM_000388.4(CASR):c.354C>A:p.Asn118Lys	coding	Pathogenic
3	122257269	T	C	T122257269C	CASR	NM_000388.4(CASR):c.374T>C:p.Leu125Pro	coding	Pathogenic
3	122257274	G	A	G122257274A	CASR	NM_000388.4(CASR):c.379G>A:p.Glu127Lys	coding	Pathogenic
3	122257275	A	C	A122257275C	CASR	NM_000388.4(CASR):c.380A>C:p.Glu127Ala	coding	Pathogenic
3	122257277	T	C	T122257277C	CASR	NM_000388.4(CASR):c.382T>C:p.Phe128Leu	coding	Pathogenic
3	122257279	C	A	C122257279A	CASR	NM_000388.4(CASR):c.384C>A:p.Phe128Leu	coding	Pathogenic
3	122257281	G	A	G122257281A	CASR	NM_000388.4(CASR):c.386G>A:p.Cys129Tyr	coding	Pathogenic
3	122257288	C	G	C122257288G	CASR	NM_000388.4(CASR):c.393C>G:p.Cys131Trp	coding	Pathogenic
3	122257323	G	A	G122257323A	CASR	NM_000388.4(CASR):c.428G>A:p.Gly143Glu	coding	Pathogenic/Likely_pathogenic
3	122257347	C	T	C122257347T	CASR	NM_000388.4(CASR):c.452C>T:p.Thr151Met	coding	Pathogenic
3	122257406	G	A	G122257406A	CASR	NM_000388.4(CASR):c.492+19G>A	noncoding	Benign
3	122261549	A	G	A122261549G	CASR	NM_000388.4(CASR):c.514A>G:p.Arg172Gly	coding	Pathogenic
3	122261572	A	G	A122261572G	CASR	NM_000388.4(CASR):c.537A>G:p.Gln179=	coding	Benign/Likely_benign
3	122261574	T	G	T122261574G	CASR	NM_000388.4(CASR):c.539T>G:p.Phe180Cys	coding	Pathogenic
3	122261588	C	T	C122261588T	CASR	NM_000388.4(CASR):c.553C>T:p.Arg185Ter	coding	Pathogenic
3	122261589	G	A	G122261589A	CASR	NM_000388.4(CASR):c.554G>A:p.Arg185Gln	coding	Pathogenic
3	122261606	G	A	G122261606A	CASR	NM_000388.4(CASR):c.571G>A:p.Glu191Lys	coding	Pathogenic
3	122261608	G	A	G122261608A	CASR	NM_000388.4(CASR):c.573G>A:p.Glu191=	coding	Benign/Likely_benign
3	122261612	C	T	C122261612T	CASR	NM_000388.4(CASR):c.577C>T:p.Gln193Ter	coding	Pathogenic
3	122261687	T	G	T122261687G	CASR	NM_000388.4(CASR):c.652T>G:p.Tyr218Asp	coding	Pathogenic
3	122261693	C	T	C122261693T	CASR	NM_000388.4(CASR):c.658C>T:p.Arg220Trp	coding	Pathogenic
3	122261697	C	A	C122261697A	CASR	NM_000388.4(CASR):c.662C>A:p.Pro221Gln	coding	Pathogenic
3	122261697	C	T	C122261697T	CASR	NM_000388.4(CASR):c.662C>T:p.Pro221Leu	coding	Pathogenic
3	122261714	C	T	C122261714T	CASR	NM_000388.4(CASR):c.679C>T:p.Arg227Ter	coding	Pathogenic
3	122261715	G	A	G122261715A	CASR	NM_000388.4(CASR):c.680G>A:p.Arg227Gln	coding	Pathogenic
3	122261715	G	T	G122261715T	CASR	NM_000388.4(CASR):c.680G>T:p.Arg227Leu	coding	Pathogenic
3	122261768	C	T	C122261768T	CASR	NM_000388.4(CASR):c.733C>T:p.Gln245Ter	coding	Pathogenic
3	122261783	G	A	G122261783A	CASR	NM_000388.4(CASR):c.748G>A:p.Glu250Lys	coding	Benign/Likely_benign
3	122261924	G	A	G122261924A	CASR	NM_000388.4(CASR):c.889G>A:p.Glu297Lys	coding	Pathogenic
3	122261941	C	T	C122261941T	CASR	NM_000388.4(CASR):c.906C>T:p.Ser302=	coding	Benign/Likely_benign
3	122261950	C	A	C122261950A	CASR	NM_000388.4(CASR):c.915C>A:p.Ile305=	coding	Benign/Likely_benign
3	122262199	G	A	G122262199A	CASR	NM_000388.4(CASR):c.1164G>A:p.Ser388=	coding	Benign
3	122262209	C	T	C122262209T	CASR	NM_000388.4(CASR):c.1174C>T:p.Arg392Ter	coding	Pathogenic
3	122262320	C	T	C122262320T	CASR	NM_000388.4(CASR):c.1285C>T:p.His429Tyr	coding	Benign/Likely_benign
3	122262368	A	G	A122262368G	CASR	NM_000388.4(CASR):c.1333A>G:p.Thr445Ala	coding	Benign/Likely_benign
3	122275959	G	A	G122275959A	CASR	NM_000388.4(CASR):c.1525G>A:p.Gly509Arg	coding	Pathogenic/Likely_pathogenic
3	122282134	C	T	C122282134T	CASR	NM_000388.4(CASR):c.1630C>T:p.Arg544Ter	coding	Pathogenic
3	122282161	G	A	G122282161A	CASR	NM_000388.4(CASR):c.1657G>A:p.Gly553Arg	coding	Pathogenic
3	122282237	G	T	G122282237T	CASR	NM_000388.4(CASR):c.1732+1G>T	coding	Pathogenic
3	122282252	T	C	T122282252C	CASR	NM_000388.4(CASR):c.1732+16T>C	noncoding	Benign
3	122283699	G	A	G122283699A	CASR	NM_000388.4(CASR):c.1745G>A:p.Cys582Tyr	coding	Pathogenic
3	122283699	G	T	G122283699T	CASR	NM_000388.4(CASR):c.1745G>T:p.Cys582Phe	coding	Pathogenic
3	122283729	A	G	A122283729G	CASR	NM_000388.4(CASR):c.1775A>G:p.Asn592Ser	coding	Benign
3	122283764	G	A	G122283764A	CASR	NM_000388.4(CASR):c.1810G>A:p.Glu604Lys	coding	Pathogenic
3	122283782	G	T	G122283782T	CASR	NM_000388.4(CASR):c.1828G>T:p.Glu610Ter	coding	Pathogenic
3	122283789	T	C	T122283789C	CASR	NM_000388.4(CASR):c.1835T>C:p.Phe612Ser	coding	Pathogenic
3	122283800	C	G	C122283800G	CASR	NM_000388.4(CASR):c.1846C>G:p.Leu616Val	coding	Pathogenic
3	122283867	G	T	G122283867T	CASR	NM_000388.4(CASR):c.1913G>T:p.Arg638Leu	coding	Pathogenic
3	122283896	C	T	C122283896T	CASR	NM_000388.4(CASR):c.1942C>T:p.Arg648Ter	coding	Pathogenic
3	122283937	C	A	C122283937A	CASR	NM_000388.4(CASR):c.1983C>A:p.Cys661Ter	coding	Pathogenic
3	122283963	G	A	G122283963A	CASR	NM_000388.4(CASR):c.2009G>A:p.Gly670Glu	coding	Pathogenic
3	122283997	G	T	G122283997T	CASR	NM_000388.4(CASR):c.2043G>T:p.Gln681His	coding	Pathogenic
3	122284134	T	A	T122284134A	CASR	NM_000388.4(CASR):c.2180T>A:p.Leu727Gln	coding	Pathogenic
3	122284198	G	C	G122284198C	CASR	NM_000388.4(CASR):c.2244G>C:p.Pro748=	coding	Benign
3	122284272	T	G	T122284272G	CASR	NM_000388.4(CASR):c.2318T>G:p.Leu773Arg	coding	Pathogenic
3	122284316	T	C	T122284316C	CASR	NM_000388.4(CASR):c.2362T>C:p.Phe788Leu	coding	Pathogenic
3	122284317	T	G	T122284317G	CASR	NM_000388.4(CASR):c.2363T>G:p.Phe788Cys	coding	Pathogenic
3	122284318	C	G	C122284318G	CASR	NM_000388.4(CASR):c.2364C>G:p.Phe788Leu	coding	Pathogenic
3	122284337	C	T	C122284337T	CASR	NM_000388.4(CASR):c.2383C>T:p.Arg795Trp	coding	Pathogenic/Likely_pathogenic
3	122284342	G	A	G122284342A	CASR	NM_000388.4(CASR):c.2388G>A:p.Lys796=	coding	Benign
3	122284371	T	C	T122284371C	CASR	NM_000388.4(CASR):c.2417T>C:p.Phe806Ser	coding	Pathogenic
3	122284383	G	A	G122284383A	CASR	NM_000388.4(CASR):c.2429G>A:p.Ser810Asn	coding	Pathogenic
3	122284413	C	T	C122284413T	CASR	NM_000388.4(CASR):c.2459C>T:p.Ser820Phe	coding	Pathogenic
3	122284482	C	A	C122284482A	CASR	NM_000388.4(CASR):c.2528C>A:p.Ala843Glu	coding	Pathogenic
3	122284564	G	A	G122284564A	CASR	NM_000388.4(CASR):c.2610G>A:p.Glu870=	coding	Benign/Likely_benign
3	122284565	G	T	G122284565T	CASR	NM_000388.4(CASR):c.2611G>T:p.Glu871Ter	coding	Pathogenic
3	122284610	C	T	C122284610T	CASR	NM_000388.4(CASR):c.2656C>T:p.Arg886Trp	coding	Pathogenic
3	122284611	G	C	G122284611C	CASR	NM_000388.4(CASR):c.2657G>C:p.Arg886Pro	coding	Pathogenic
3	122284684	C	A	C122284684A	CASR	NM_000388.4(CASR):c.2730C>A:p.Pro910=	coding	Benign/Likely_benign
3	122284778	G	A	G122284778A	CASR	NM_000388.4(CASR):c.2824G>A:p.Glu942Lys	coding	Benign/Likely_benign
3	122284910	G	T	G122284910T	CASR	NM_000388.4(CASR):c.2956G>T:p.Ala986Ser	coding	Benign
3	122284922	A	G	A122284922G	CASR	NM_000388.4(CASR):c.2968A>G:p.Arg990Gly	coding	Benign
3	122284985	G	C	G122284985C	CASR	NM_000388.4(CASR):c.3031G>C:p.Glu1011Gln	coding	Benign
3	122285251	A	T	A122285251T	CASR	NM_000388.4(CASR):c.*60A>T	noncoding	Benign
3	122285278	C	T	C122285278T	CASR	NM_000388.4(CASR):c.*87C>T	noncoding	Benign/Likely_benign
3	122285765	C	G	C122285765G	CASR	NM_000388.4(CASR):c.*574C>G	noncoding	Benign
3	122286206	A	G	A122286206G	CASR	NM_000388.4(CASR):c.*1015A>G	noncoding	Benign
3	122286284	C	T	C122286284T	CASR	NM_000388.4(CASR):c.*1093C>T	noncoding	Benign
3	122286389	T	C	T122286389C	CASR	NM_000388.4(CASR):c.*1198T>C	noncoding	Benign
3	122286426	A	G	A122286426G	CASR	NM_000388.4(CASR):c.*1235A>G	noncoding	Benign
3	122325356	A	T	A122325356T	CSTA	NM_005213.4(CSTA):c.64A>T:p.Lys22Ter	coding	Pathogenic
3	122337545	A	T	A122337545T	CSTA	NM_005213.4(CSTA):c.67-2A>T	noncoding	Pathogenic
3	122341442	C	T	C122341442T	CSTA	NM_005213.4(CSTA):c.172C>T:p.Arg58Ter	coding	Pathogenic
3	122341526	C	T	C122341526T	CSTA	NM_005213.4(CSTA):c.256C>T:p.Gln86Ter	coding	Pathogenic
3	122341543	G	T	G122341543T	CSTA	NM_005213.4(CSTA):c.273G>T:p.Lys91Asn	coding	Benign
3	122433726	C	T	C122433726T	KPNA1	NM_002264.4(KPNA1):c.1185G>A:p.Arg395=	coding	Benign
3	122536993	T	C	T122536993C	PARP9	NM_001146102.2(PARP9):c.1951A>G:p.Thr651Ala	coding	Benign
3	122550697	C	T	C122550697T	PARP9	NM_001146102.2(PARP9):c.1318G>A:p.Glu440Lys	coding	Benign
3	122569465	G	T	G122569465T	DTX3L	NM_138287.3(DTX3L):c.1376G>T:p.Gly459Val	coding	Benign
3	122613219	T	C	T122613219C	PARP15	NM_001113523.3(PARP15):c.722T>C:p.Leu241Ser	coding	Benign
3	122632208	G	A	G122632208A	PARP15	NM_001113523.3(PARP15):c.1561G>A:p.Ala521Thr	coding	Benign
3	122700009	T	A	T122700009A	PARP14	NM_017554.3(PARP14):c.1455T>A:p.Ser485Arg	coding	Benign
3	122700016	G	A	G122700016A	PARP14	NM_017554.3(PARP14):c.1462G>A:p.Asp488Asn	coding	Benign
3	122700637	C	A	C122700637A	PARP14	NM_017554.3(PARP14):c.2083C>A:p.Pro695Thr	coding	Benign
3	122701146	C	T	C122701146T	PARP14	NM_017554.3(PARP14):c.2592C>T:p.Ala864=	coding	Benign
3	122718389	A	C	A122718389C	PARP14	NM_017554.3(PARP14):c.4238A>C:p.Gln1413Pro	coding	Benign
3	122718689	C	T	C122718689T	PARP14	NM_017554.3(PARP14):c.4538C>T:p.Ala1513Val	coding	Benign
3	122928583	G	A	G122928583A	SEMA5B	NM_001031702.4(SEMA5B):c.570C>T:p.Ile190=	coding	Benign
3	123284617	C	T	C123284617T	ADCY5	NM_183357.2(ADCY5):c.3777G>A:p.Pro1259=	coding	Benign
3	123284698	C	T	C123284698T	ADCY5	NM_183357.2(ADCY5):c.3696G>A:p.Thr1232=	coding	Benign
3	123289862	G	A	G123289862A	ADCY5	NM_183357.2(ADCY5):c.3420C>T:p.Tyr1140=	coding	Benign
3	123289907	G	A	G123289907A	ADCY5	NM_183357.2(ADCY5):c.3375C>T:p.Ile1125=	coding	Benign
3	123291354	A	T	A123291354T	ADCY5	NM_183357.2(ADCY5):c.3086T>A:p.Met1029Lys	coding	Pathogenic
3	123296132	G	T	G123296132T	ADCY5	NM_183357.2(ADCY5):c.3015C>A:p.Ala1005=	coding	Benign
3	123296135	G	A	G123296135A	ADCY5	NM_183357.2(ADCY5):c.3012C>T:p.His1004=	coding	Benign
3	123296216	G	T	G123296216T	ADCY5	NM_183357.2(ADCY5):c.2931C>A:p.Cys977Ter	coding	Pathogenic
3	123300155	G	A	G123300155A	ADCY5	NM_183357.2(ADCY5):c.2865C>T:p.Phe955=	coding	Benign
3	123303148	G	A	G123303148A	ADCY5	NM_183357.2(ADCY5):c.2631C>T:p.Asn877=	coding	Benign
3	123304145	G	T	G123304145T	ADCY5	NM_183357.2(ADCY5):c.2481C>A:p.Ile827=	coding	Benign
3	123319754	C	T	C123319754T	ADCY5	NM_183357.2(ADCY5):c.2176G>A:p.Ala726Thr	coding	Pathogenic
3	123319755	G	A	G123319755A	ADCY5	NM_183357.2(ADCY5):c.2175C>T:p.Asp725=	coding	Benign
3	123325321	C	A	C123325321A	ADCY5	NM_183357.2(ADCY5):c.2088+1G>T	noncoding	Pathogenic
3	123325321	C	T	C123325321T	ADCY5	NM_183357.2(ADCY5):c.2088+1G>A	noncoding	Pathogenic
3	123328819	A	G	A123328819G	ADCY5	NM_183357.2(ADCY5):c.1647-17T>C	noncoding	Benign
3	123331025	C	A	C123331025A	ADCY5	NM_183357.2(ADCY5):c.1519-9G>T	noncoding	Benign
3	123332582	G	A	G123332582A	ADCY5	NM_183357.2(ADCY5):c.1500C>T:p.Arg500=	coding	Benign
3	123332657	G	C	G123332657C	ADCY5	NM_183357.2(ADCY5):c.1425C>G:p.Ile475Met	coding	Pathogenic
3	123347909	G	A	G123347909A	ADCY5	NM_183357.2(ADCY5):c.1285-6C>T	noncoding	Benign
3	123347911	G	T	G123347911T	ADCY5	NM_183357.2(ADCY5):c.1285-8C>A	noncoding	Benign
3	123352463	C	T	C123352463T	ADCY5	NM_183357.2(ADCY5):c.1253G>A:p.Arg418Gln	coding	Pathogenic
3	123447550	G	A	G123447550A	ADCY5	NM_183357.2(ADCY5):c.996C>T:p.Thr332=	coding	Benign
3	123447583	C	T	C123447583T	ADCY5	NM_183357.2(ADCY5):c.963G>A:p.Gln321=	coding	Benign
3	123447730	G	T	G123447730T	ADCY5	NM_183357.2(ADCY5):c.816C>A:p.Ala272=	coding	Benign
3	123447878	G	T	G123447878T	ADCY5	NM_183357.2(ADCY5):c.668C>A:p.Ser223Ter	coding	Pathogenic
3	123448029	G	A	G123448029A	ADCY5	NM_183357.2(ADCY5):c.517C>T:p.Leu173=	coding	Benign
3	123448416	G	A	G123448416A	ADCY5	NM_183357.2(ADCY5):c.130C>T:p.His44Tyr	coding	Benign
3	123612296	T	C	T123612296C	MYLK	NM_053025.4(MYLK):c.*1809A>G	noncoding	Benign
3	123612567	T	C	T123612567C	MYLK	NM_053025.4(MYLK):c.*1538A>G	noncoding	Benign
3	123613493	G	T	G123613493T	MYLK	NM_053025.4(MYLK):c.*612C>A	noncoding	Benign
3	123613686	G	A	G123613686A	MYLK	NM_053025.4(MYLK):c.*419C>T	noncoding	Benign
3	123613699	C	G	C123613699G	MYLK	NM_053025.4(MYLK):c.*406G>C	noncoding	Benign
3	123614369	C	T	C123614369T	MYLK	NM_053025.4(MYLK):c.5501-20G>A	noncoding	Benign/Likely_benign
3	123618691	G	A	G123618691A	MYLK	NM_053025.4(MYLK):c.5448C>T:p.Arg1816=	coding	Benign/Likely_benign
3	123620300	A	G	A123620300G	MYLK	NM_053025.4(MYLK):c.5275T>C:p.Ser1759Pro	coding	Pathogenic/Likely_pathogenic
3	123626812	C	T	C123626812T	MYLK	NM_053025.4(MYLK):c.5238+6G>A	noncoding	Benign/Likely_benign
3	123626935	G	A	G123626935A	MYLK	NM_053025.4(MYLK):c.5121C>T:p.Arg1707=	coding	Benign/Likely_benign
3	123629509	C	T	C123629509T	MYLK	NM_053025.4(MYLK):c.5079G>A:p.Lys1693=	coding	Benign
3	123638112	G	A	G123638112A	MYLK	NM_053025.4(MYLK):c.4920C>T:p.Tyr1640=	coding	Benign/Likely_benign
3	123638190	A	G	A123638190G	MYLK	NM_053025.4(MYLK):c.4842T>C:p.Asn1614=	coding	Benign
3	123640324	C	T	C123640324T	MYLK	NM_053025.4(MYLK):c.4800G>A:p.Arg1600=	coding	Benign/Likely_benign
3	123640360	C	T	C123640360T	MYLK	NM_053025.4(MYLK):c.4764G>A:p.Pro1588=	coding	Benign/Likely_benign
3	123640516	C	T	C123640516T	MYLK	NM_053025.4(MYLK):c.4620-12G>A	noncoding	Benign/Likely_benign
3	123640522	C	T	C123640522T	MYLK	NM_053025.4(MYLK):c.4620-18G>A	noncoding	Benign/Likely_benign
3	123647372	C	A	C123647372A	MYLK	NM_053025.4(MYLK):c.4471G>T:p.Ala1491Ser	coding	Pathogenic
3	123647384	G	A	G123647384A	MYLK	NM_053025.4(MYLK):c.4459C>T:p.Arg1487Ter	coding	Pathogenic
3	123647405	G	A	G123647405A	MYLK	NM_053025.4(MYLK):c.4438C>T:p.Arg1480Ter	coding	Pathogenic
3	123649014	G	A	G123649014A	MYLK	NM_053025.4(MYLK):c.4372C>T:p.Gln1458Ter	coding	Pathogenic
3	123649037	C	T	C123649037T	MYLK	NM_053025.4(MYLK):c.4349G>A:p.Arg1450Gln	coding	Benign/Likely_benign
3	123649166	A	G	A123649166G	MYLK	NM_053025.4(MYLK):c.4317T>C:p.Asp1439=	coding	Benign
3	123649198	G	C	G123649198C	MYLK	NM_053025.4(MYLK):c.4289-4C>G	noncoding	Benign/Likely_benign
3	123649203	G	C	G123649203C	MYLK	NM_053025.4(MYLK):c.4289-9C>G	noncoding	Benign/Likely_benign
3	123657220	G	A	G123657220A	MYLK	NM_053025.4(MYLK):c.4194C>T:p.His1398=	coding	Benign
3	123657400	A	G	A123657400G	MYLK	NM_053025.4(MYLK):c.4014T>C:p.Pro1338=	coding	Benign/Likely_benign
3	123657427	A	C	A123657427C	MYLK	NM_053025.4(MYLK):c.3987T>G:p.Asp1329Glu	coding	Benign/Likely_benign
3	123664100	C	A	C123664100A	MYLK	NM_053025.4(MYLK):c.3985+5G>T	noncoding	Pathogenic
3	123666227	G	A	G123666227A	MYLK	NM_053025.4(MYLK):c.3823C>T:p.Arg1275Ter	coding	Pathogenic
3	123682213	C	T	C123682213T	MYLK	NM_053025.4(MYLK):c.3652+11G>A	noncoding	Benign
3	123682237	C	T	C123682237T	MYLK	NM_053025.4(MYLK):c.3639G>A:p.Val1213=	coding	Benign/Likely_benign
3	123692742	G	A	G123692742A	MYLK	NM_053025.4(MYLK):c.3558C>T:p.Thr1186=	coding	Benign
3	123700066	G	A	G123700066A	MYLK	NM_053025.4(MYLK):c.3402C>T:p.Asn1134=	coding	Benign
3	123700215	T	C	T123700215C	MYLK	NM_053025.4(MYLK):c.3253A>G:p.Thr1085Ala	coding	Benign
3	123700226	T	C	T123700226C	MYLK	NM_053025.4(MYLK):c.3242A>G:p.His1081Arg	coding	Benign/Likely_benign
3	123700393	G	A	G123700393A	MYLK	NM_053025.4(MYLK):c.3075C>T:p.Pro1025=	coding	Benign
3	123700441	C	T	C123700441T	MYLK	NM_053025.4(MYLK):c.3027G>A:p.Glu1009=	coding	Benign
3	123700726	G	T	G123700726T	MYLK	NM_053025.4(MYLK):c.2742C>A:p.Asp914Glu	coding	Benign/Likely_benign
3	123700840	G	A	G123700840A	MYLK	NM_053025.4(MYLK):c.2628C>T:p.Arg876=	coding	Benign/Likely_benign
3	123700886	A	G	A123700886G	MYLK	NM_053025.4(MYLK):c.2582T>C:p.Leu861Pro	coding	Benign/Likely_benign
3	123700935	G	A	G123700935A	MYLK	NM_053025.4(MYLK):c.2533C>T:p.Arg845Cys	coding	Benign/Likely_benign
3	123707753	C	G	C123707753G	MYLK	NM_053025.4(MYLK):c.2390+1G>C	noncoding	Pathogenic
3	123707756	G	A	G123707756A	MYLK	NM_053025.4(MYLK):c.2388C>T:p.Leu796=	coding	Benign/Likely_benign
3	123708737	C	T	C123708737T	MYLK	NM_053025.4(MYLK):c.2101G>A:p.Ala701Thr	coding	Benign/Likely_benign
3	123708815	C	T	C123708815T	MYLK	NM_053025.4(MYLK):c.2023G>A:p.Gly675Arg	coding	Benign/Likely_benign
3	123722120	G	A	G123722120A	MYLK	NM_053025.4(MYLK):c.1804+8C>T	noncoding	Benign
3	123725938	A	T	A123725938T	MYLK	NM_053025.4(MYLK):c.1651+6T>A	noncoding	Benign
3	123732880	G	A	G123732880A	MYLK	NM_053025.4(MYLK):c.1516+16C>T	noncoding	Benign
3	123732896	T	C	T123732896C	MYLK	NM_053025.4(MYLK):c.1516A>G:p.Arg506Gly	coding	Benign/Likely_benign
3	123732926	G	C	G123732926C	MYLK	NM_053025.4(MYLK):c.1486C>G:p.Leu496Val	coding	Benign
3	123733085	G	A	G123733085A	MYLK	NM_053025.4(MYLK):c.1327C>T:p.Pro443Ser	coding	Benign/Likely_benign
3	123733989	G	A	G123733989A	MYLK	NM_053025.4(MYLK):c.1007C>T:p.Pro336Leu	coding	Benign/Likely_benign
3	123733991	G	A	G123733991A	MYLK	NM_053025.4(MYLK):c.1005C>T:p.Thr335=	coding	Benign
3	123734012	C	T	C123734012T	MYLK	NM_053025.4(MYLK):c.984G>A:p.Ser328=	coding	Benign/Likely_benign
3	123734214	A	G	A123734214G	MYLK	NM_053025.4(MYLK):c.782T>C:p.Val261Ala	coding	Benign/Likely_benign
3	123734240	T	G	T123734240G	MYLK	NM_053025.4(MYLK):c.774-18A>C	noncoding	Benign
3	123735428	G	A	G123735428A	MYLK	NM_053025.4(MYLK):c.755-12C>T	noncoding	Benign/Likely_benign
3	123737421	G	A	G123737421A	MYLK	NM_053025.4(MYLK):c.711C>T:p.Asn237=	coding	Benign/Likely_benign
3	123737480	G	A	G123737480A	MYLK	NM_053025.4(MYLK):c.652C>T:p.Leu218=	coding	Benign
3	123739006	G	C	G123739006C	MYLK	NM_053025.4(MYLK):c.479C>G:p.Pro160Arg	coding	Benign/Likely_benign
3	123739046	G	A	G123739046A	MYLK	NM_053025.4(MYLK):c.439C>T:p.Pro147Ser	coding	Benign
3	123739939	C	G	C123739939G	MYLK	NM_053025.4(MYLK):c.422+14G>C	noncoding	Benign/Likely_benign
3	123739964	G	C	G123739964C	MYLK	NM_053025.4(MYLK):c.411C>G:p.Ser137=	coding	Benign
3	123739992	G	A	G123739992A	MYLK	NM_053025.4(MYLK):c.383C>T:p.Ala128Val	coding	Benign
3	123739993	C	T	C123739993T	MYLK	NM_053025.4(MYLK):c.382G>A:p.Ala128Thr	coding	Benign/Likely_benign
3	123752313	G	A	G123752313A	MYLK	NM_053025.4(MYLK):c.373+18C>T	noncoding	Benign/Likely_benign
3	123752444	C	T	C123752444T	MYLK	NM_053025.4(MYLK):c.260G>A:p.Gly87Glu	coding	Benign/Likely_benign
3	123793780	G	T	G123793780T	MYLK	NM_053025.4(MYLK):c.62C>A:p.Pro21His	coding	Benign/Likely_benign
3	123831616	G	A	G123831616A	MYLK	NM_053025.4(MYLK):c.-72C>T	noncoding	Benign
3	123876585	G	A	G123876585A	MYLK	NM_053025.4(MYLK):c.-153C>T	noncoding	Benign
3	123884217	A	G	A123884217G	MYLK	NM_053025.4(MYLK):c.-197T>C	noncoding	Benign
3	123969185	A	G	A123969185G	ROPN1	NM_001317774.1(ROPN1):c.609T>C:p.Phe203=	coding	Benign
3	123976912	A	C	A123976912C	ROPN1	NM_001317774.1(ROPN1):c.186T>G:p.Cys62Trp	coding	Benign
3	124055231	T	G	T124055231G	KALRN	NC_000003.11:g.123774078T>G	noncoding	Pathogenic
3	124633911	A	T	A124633911T	KALRN	NM_001024660.4(KALRN):c.5523A>T:p.Pro1841=	coding	Benign
3	124650935	G	T	G124650935T	KALRN	NM_001024660.4(KALRN):c.5789G>T:p.Arg1930Met	coding	Benign
3	124657803	C	T	C124657803T	KALRN	NM_001024660.4(KALRN):c.6033C>T:p.His2011=	coding	Benign
3	124658451	C	T	C124658451T	KALRN	NM_001024660.4(KALRN):c.6054C>T:p.Tyr2018=	coding	Benign
3	124658479	T	G	T124658479G	KALRN	NM_001024660.4(KALRN):c.6082T>G:p.Ser2028Ala	coding	Benign
3	124658490	C	T	C124658490T	KALRN	NM_001024660.4(KALRN):c.6093C>T:p.Ile2031=	coding	Benign
3	124658505	C	T	C124658505T	KALRN	NM_001024660.4(KALRN):c.6108C>T:p.Asp2036=	coding	Benign
3	124694372	C	T	C124694372T	KALRN	NM_001024660.4(KALRN):c.7446C>T:p.Cys2482=	coding	Benign
3	124719341	C	T	C124719341T	KALRN	NM_001024660.4(KALRN):c.8832C>T:p.Ser2944=	coding	Benign
3	124730362	A	G	A124730362G	UMPS	NM_000373.3(UMPS):c.-110A>G	noncoding	Benign
3	124730405	T	C	T124730405C	UMPS	NM_000373.3(UMPS):c.-67T>C	noncoding	Benign
3	124730444	A	G	A124730444G	UMPS	NM_000373.3(UMPS):c.-28A>G	noncoding	Benign
3	124730489	A	G	A124730489G	UMPS	NM_000373.4(UMPS):c.18A>G:p.Ala6=	coding	Benign/Likely_benign
3	124730492	T	C	T124730492C	UMPS	NM_000373.4(UMPS):c.21T>C:p.Ala7=	coding	Benign/Likely_benign
3	124730559	A	G	A124730559G	UMPS	NM_000373.4(UMPS):c.88A>G:p.Ser30Gly	coding	Benign/Likely_benign
3	124737583	T	G	T124737583G	UMPS	NM_000373.4(UMPS):c.326T>G:p.Val109Gly	coding	Pathogenic
3	124737593	T	A	T124737593A	UMPS	NM_000373.4(UMPS):c.336T>A:p.Thr112=	coding	Benign
3	124737927	G	T	G124737927T	UMPS	NM_000373.4(UMPS):c.670G>T:p.Glu224Ter	coding	Pathogenic
3	124740079	A	G	A124740079G	UMPS	NM_000373.4(UMPS):c.1038A>G:p.Pro346=	coding	Benign
3	124740091	T	A	T124740091A	UMPS	NM_000373.4(UMPS):c.1050T>A:p.Val350=	coding	Benign
3	124743961	C	T	C124743961T	UMPS	NM_000373.4(UMPS):c.1320C>T:p.Gly440=	coding	Benign
3	124743977	A	G	A124743977G	UMPS	NM_000373.4(UMPS):c.1336A>G:p.Ile446Val	coding	Benign
3	124744112	A	G	A124744112G	UMPS	NM_000373.4(UMPS):c.*28A>G	noncoding	Benign
3	124744809	A	T	A124744809T	UMPS	NM_000373.4(UMPS):c.*725A>T	noncoding	Benign
3	124744810	C	T	C124744810T	UMPS	NM_000373.4(UMPS):c.*726C>T	noncoding	Benign
3	124745067	C	T	C124745067T	UMPS	NM_000373.4(UMPS):c.*983C>T	noncoding	Benign
3	124745077	A	T	A124745077T	UMPS	NM_000373.4(UMPS):c.*993A>T	noncoding	Benign
3	124745135	G	T	G124745135T	UMPS	NM_000373.4(UMPS):c.*1051G>T	noncoding	Benign
3	124745172	T	G	T124745172G	UMPS	NM_000373.4(UMPS):c.*1088T>G	noncoding	Benign
3	124745295	C	A	C124745295A	UMPS	NM_000373.4(UMPS):c.*1211C>A	noncoding	Benign
3	124745403	G	A	G124745403A	UMPS	NM_000373.4(UMPS):c.*1319G>A	noncoding	Benign
3	124745410	C	A	C124745410A	UMPS	NM_000373.4(UMPS):c.*1326C>A	noncoding	Benign
3	124745795	T	G	T124745795G	UMPS	NM_000373.4(UMPS):c.*1711T>G	noncoding	Benign
3	124746015	G	A	G124746015A	UMPS	NM_000373.4(UMPS):c.*1931G>A	noncoding	Benign
3	124746698	G	A	G124746698A	UMPS	NM_000373.4(UMPS):c.*2614G>A	noncoding	Benign
3	124746802	C	T	C124746802T	UMPS	NM_000373.4(UMPS):c.*2718C>T	noncoding	Benign
3	124747460	C	T	C124747460T	UMPS	NM_000373.4(UMPS):c.*3376C>T	noncoding	Benign
3	124747498	A	G	A124747498G	UMPS	NM_000373.4(UMPS):c.*3414A>G	noncoding	Benign
3	124747621	G	A	G124747621A	UMPS	NM_000373.4(UMPS):c.*3537G>A	noncoding	Benign
3	124747673	C	T	C124747673T	UMPS	NM_000373.4(UMPS):c.*3589C>T	noncoding	Benign
3	124747869	C	G	C124747869G	UMPS	NM_000373.4(UMPS):c.*3785C>G	noncoding	Benign
3	124748336	G	T	G124748336T	UMPS	NM_000373.4(UMPS):c.*4252G>T	noncoding	Benign
3	124748362	G	A	G124748362A	UMPS	NM_000373.4(UMPS):c.*4278G>A	noncoding	Benign
3	124748400	C	A	C124748400A	UMPS	NM_000373.4(UMPS):c.*4316C>A	noncoding	Benign
3	124748428	T	C	T124748428C	UMPS	NM_000373.4(UMPS):c.*4344T>C	noncoding	Benign
3	124748514	C	T	C124748514T	UMPS	NM_000373.4(UMPS):c.*4430C>T	noncoding	Benign
3	124748569	G	T	G124748569T	UMPS	NM_000373.4(UMPS):c.*4485G>T	noncoding	Benign
3	124748570	G	A	G124748570A	UMPS	NM_000373.4(UMPS):c.*4486G>A	noncoding	Benign
3	124748801	C	T	C124748801T	UMPS	NM_000373.4(UMPS):c.*4717C>T	noncoding	Benign
3	124748823	G	T	G124748823T	UMPS	NM_000373.4(UMPS):c.*4739G>T	noncoding	Benign
3	124748990	G	C	G124748990C	UMPS	NM_000373.4(UMPS):c.*4906G>C	noncoding	Benign
3	124749098	C	T	C124749098T	UMPS	NM_000373.4(UMPS):c.*5014C>T	noncoding	Benign
3	124848500	C	T	C124848500T	ITGB5	NM_002213.5(ITGB5):c.420G>A:p.Leu140=	coding	Benign
3	125012709	G	A	G125012709A	HEG1	NM_020733.2(HEG1):c.2870C>T:p.Thr957Met	coding	Benign
3	125013582	G	A	G125013582A	HEG1	NM_020733.2(HEG1):c.1997C>T:p.Ser666Phe	coding	Benign
3	125013895	T	A	T125013895A	HEG1	NM_020733.2(HEG1):c.1684A>T:p.Thr562Ser	coding	Benign
3	125027338	C	T	C125027338T	HEG1	NM_020733.2(HEG1):c.780G>A:p.Pro260=	coding	Benign
3	125232934	T	A	T125232934A	ZNF148	NM_021964.2(ZNF148):c.1792A>T:p.Lys598Ter	coding	Pathogenic
3	125233184	C	T	C125233184T	ZNF148	NM_021964.2(ZNF148):c.1542G>A:p.Thr514=	coding	Benign
3	125233349	A	G	A125233349G	ZNF148	NM_021964.2(ZNF148):c.1377T>C:p.His459=	coding	Benign
3	125233613	C	T	C125233613T	ZNF148	NM_021964.2(ZNF148):c.1113G>A:p.Ser371=	coding	Benign
3	125233916	T	C	T125233916C	ZNF148	NM_021964.2(ZNF148):c.810A>G:p.Val270=	coding	Benign
3	126105876	C	A	C126105876A	ALDH1L1	NM_012190.4(ALDH1L1):c.2503G>T:p.Ala835Ser	coding	Benign
3	126107135	C	T	C126107135T	ALDH1L1	NM_012190.4(ALDH1L1):c.2453+6G>A	noncoding	Benign
3	126109957	C	T	C126109957T	ALDH1L1	NM_012190.4(ALDH1L1):c.2334G>A:p.Gln778=	coding	Benign
3	126136773	G	A	G126136773A	ALDH1L1	NM_012190.4(ALDH1L1):c.1335C>T:p.Thr445=	coding	Benign
3	126136883	C	T	C126136883T	ALDH1L1	NM_012190.4(ALDH1L1):c.1225G>A:p.Val409Met	coding	Benign
3	126137845	C	G	C126137845G	ALDH1L1	NM_012190.4(ALDH1L1):c.1192G>C:p.Asp398His	coding	Benign
3	126137885	A	G	A126137885G	ALDH1L1	NM_012190.4(ALDH1L1):c.1152T>C:p.Phe384=	coding	Benign
3	126153573	T	C	T126153573C	ALDH1L1	NM_012190.4(ALDH1L1):c.729A>G:p.Thr243=	coding	Benign
3	126154648	G	A	G126154648A	ALDH1L1	NM_012190.4(ALDH1L1):c.631-5C>T	noncoding	Benign
3	126157430	C	A	C126157430A	ALDH1L1	NM_012190.4(ALDH1L1):c.441G>T:p.Leu147=	coding	Benign
3	126158648	C	T	C126158648T	ALDH1L1	NM_012190.4(ALDH1L1):c.128-9G>A	noncoding	Benign
3	126160912	C	T	C126160912T	ALDH1L1	NM_012190.4(ALDH1L1):c.68G>A:p.Gly23Asp	coding	Benign
3	126488206	G	A	G126488206A	UROC1	NM_144639.3(UROC1):c.1782C>T:p.Gly594=	coding	Benign
3	126489331	G	A	G126489331A	UROC1	NM_144639.3(UROC1):c.1653C>T:p.Thr551=	coding	Benign
3	126492435	C	T	C126492435T	UROC1	NM_144639.3(UROC1):c.1591G>A:p.Ala531Thr	coding	Benign
3	126492439	G	A	G126492439A	UROC1	NM_144639.3(UROC1):c.1587C>T:p.Ala529=	coding	Benign
3	126492522	G	A	G126492522A	UROC1	NM_144639.3(UROC1):c.1510-6C>T	noncoding	Benign
3	126492524	G	A	G126492524A	UROC1	NM_144639.3(UROC1):c.1510-8C>T	noncoding	Benign
3	126496060	C	T	C126496060T	UROC1	NM_144639.3(UROC1):c.1487G>A:p.Arg496Gln	coding	Benign
3	126498082	T	C	T126498082C	UROC1	NM_144639.3(UROC1):c.1407A>G:p.Thr469=	coding	Benign
3	126498124	C	T	C126498124T	UROC1	NM_144639.3(UROC1):c.1365G>A:p.Ser455=	coding	Benign
3	126498141	G	A	G126498141A	UROC1	NM_144639.3(UROC1):c.1348C>T:p.Arg450Cys	coding	Pathogenic
3	126499368	G	A	G126499368A	UROC1	NM_144639.3(UROC1):c.1285C>T:p.Arg429Cys	coding	Benign
3	126504042	C	T	C126504042T	UROC1	NM_144639.3(UROC1):c.855G>A:p.Trp285Ter	coding	Pathogenic
3	126506008	G	A	G126506008A	UROC1	NM_144639.3(UROC1):c.606C>T:p.Tyr202=	coding	Benign
3	126507782	G	A	G126507782A	UROC1	NM_144639.3(UROC1):c.562C>T:p.Arg188Trp	coding	Benign
3	126508443	A	G	A126508443G	UROC1	NM_144639.3(UROC1):c.384T>C:p.Asn128=	coding	Benign
3	126510712	A	G	A126510712G	UROC1	NM_144639.3(UROC1):c.209T>C:p.Leu70Pro	coding	Pathogenic
3	126510728	C	A	C126510728A	UROC1	NM_144639.3(UROC1):c.193G>T:p.Ala65Ser	coding	Benign
3	126510789	C	T	C126510789T	UROC1	NM_144639.3(UROC1):c.132G>A:p.Ala44=	coding	Benign
3	126517661	C	T	C126517661T	UROC1	NM_144639.3(UROC1):c.59G>A:p.Arg20Gln	coding	Benign
3	126957428	G	A	G126957428A	CHCHD6	NM_032343.3(CHCHD6):c.579G>A:p.Val193=	coding	Benign
3	126989532	G	A	G126989532A	PLXNA1	NM_032242.3(PLXNA1):c.939G>A:p.Gln313=	coding	Benign
3	126991494	C	T	C126991494T	PLXNA1	NM_032242.3(PLXNA1):c.1305C>T:p.Thr435=	coding	Benign
3	127004918	C	T	C127004918T	PLXNA1	NM_032242.3(PLXNA1):c.1653C>T:p.Asp551=	coding	Benign
3	127014333	G	A	G127014333A	PLXNA1	NM_032242.3(PLXNA1):c.2562G>A:p.Ala854=	coding	Benign
3	127014519	C	T	C127014519T	PLXNA1	NM_032242.3(PLXNA1):c.2646C>T:p.Leu882=	coding	Benign
3	127014756	C	T	C127014756T	PLXNA1	NM_032242.3(PLXNA1):c.2802C>T:p.Asp934=	coding	Benign
3	127015324	C	T	C127015324T	PLXNA1	NM_032242.3(PLXNA1):c.3014+4C>T	noncoding	Benign
3	127017838	G	A	G127017838A	PLXNA1	NM_032242.3(PLXNA1):c.3606G>A:p.Ser1202=	coding	Benign
3	127018392	G	A	G127018392A	PLXNA1	NM_032242.3(PLXNA1):c.3759G>A:p.Gly1253=	coding	Benign
3	127018419	T	C	T127018419C	PLXNA1	NM_032242.3(PLXNA1):c.3786T>C:p.Ala1262=	coding	Benign
3	127020230	C	T	C127020230T	PLXNA1	NM_032242.3(PLXNA1):c.3924C>T:p.His1308=	coding	Benign
3	127022198	C	T	C127022198T	PLXNA1	NM_032242.3(PLXNA1):c.4152C>T:p.Arg1384=	coding	Benign
3	127022285	C	T	C127022285T	PLXNA1	NM_032242.3(PLXNA1):c.4239C>T:p.Ser1413=	coding	Benign
3	127028177	G	A	G127028177A	PLXNA1	NM_032242.3(PLXNA1):c.4510-4G>A	noncoding	Benign
3	127028983	C	A	C127028983A	PLXNA1	NM_032242.3(PLXNA1):c.4670-10C>A	noncoding	Benign
3	127029890	G	A	G127029890A	PLXNA1	NM_032242.3(PLXNA1):c.4887G>A:p.Thr1629=	coding	Benign
3	127032378	C	T	C127032378T	PLXNA1	NM_032242.3(PLXNA1):c.5232-9C>T	noncoding	Benign
3	127032824	G	A	G127032824A	PLXNA1	NM_032242.3(PLXNA1):c.5583G>A:p.Lys1861=	coding	Benign
3	127196922	G	A	G127196922A	C3orf56	NM_001007534.2(C3orf56):c.237G>A:p.Pro79=	coding	Benign
3	127197193	G	A	G127197193A	C3orf56	NM_001007534.2(C3orf56):c.508G>A:p.Val170Ile	coding	Benign
3	127575176	C	T	C127575176T	TPRA1	NM_001136053.4(TPRA1):c.854+9G>A	noncoding	Benign
3	127577014	C	G	C127577014G	TPRA1	NM_001136053.4(TPRA1):c.321G>C:p.Ser107=	coding	Benign
3	127599441	C	T	C127599441T	MCM2	NM_004526.4(MCM2):c.130C>T:p.Arg44Cys	coding	Pathogenic
3	127599515	T	G	T127599515G	MCM2	NM_004526.4(MCM2):c.204T>G:p.Asp68Glu	coding	Benign
3	127604749	G	A	G127604749A	MCM2	NM_004526.4(MCM2):c.378G>A:p.Arg126=	coding	Benign
3	127604963	C	T	C127604963T	MCM2	NM_004526.4(MCM2):c.480C>T:p.Asp160=	coding	Benign/Likely_benign
3	127604987	C	T	C127604987T	MCM2	NM_004526.4(MCM2):c.504C>T:p.Ile168=	coding	Benign
3	127606110	C	G	C127606110G	MCM2	NM_004526.4(MCM2):c.674-8C>G	noncoding	Benign
3	127606112	T	C	T127606112C	MCM2	NM_004526.4(MCM2):c.674-6T>C	noncoding	Benign
3	127606203	G	A	G127606203A	MCM2	NM_004526.4(MCM2):c.759G>A:p.Ala253=	coding	Benign
3	127608466	G	A	G127608466A	MCM2	NM_004526.4(MCM2):c.1186G>A:p.Ala396Thr	coding	Benign/Likely_benign
3	127608999	C	G	C127608999G	MCM2	NM_004526.4(MCM2):c.1404C>G:p.Ser468=	coding	Benign/Likely_benign
3	127616905	C	T	C127616905T	MCM2	NM_004526.4(MCM2):c.1560C>T:p.Leu520=	coding	Benign
3	127617001	G	A	G127617001A	MCM2	NM_004526.4(MCM2):c.1656G>A:p.Ser552=	coding	Benign
3	127618054	G	A	G127618054A	MCM2	NM_004526.4(MCM2):c.1986G>A:p.Val662=	coding	Benign
3	127618067	G	A	G127618067A	MCM2	NM_004526.4(MCM2):c.1999G>A:p.Val667Met	coding	Benign
3	127618091	A	G	A127618091G	MCM2	NM_004526.4(MCM2):c.2013+10A>G	noncoding	Benign
3	127619192	G	A	G127619192A	MCM2	NM_004526.4(MCM2):c.2179G>A:p.Ala727Thr	coding	Benign
3	127620802	C	T	C127620802T	MCM2	NM_004526.4(MCM2):c.2370C>T:p.Asp790=	coding	Benign/Likely_benign
3	127621180	G	A	G127621180A	MCM2	NM_004526.4(MCM2):c.2556G>A:p.Gly852=	coding	Benign/Likely_benign
3	127621740	C	T	C127621740T	MCM2	NM_004526.4(MCM2):c.2682C>T:p.Asp894=	coding	Benign
3	127621747	A	C	A127621747C	MCM2	NM_004526.4(MCM2):c.2689A>C:p.Arg897=	coding	Benign
3	127721125	C	T	C127721125T	MGLL	NM_007283.6(MGLL):c.438G>A:p.Pro146=	coding	Benign
3	127781859	G	A	G127781859A	MGLL	NM_007283.6(MGLL):c.192C>T:p.His64=	coding	Benign
3	128055731	T	G	T128055731G	SEC61A1	NM_013336.4(SEC61A1):c.200T>G:p.Val67Gly	coding	Pathogenic
3	128060513	T	C	T128060513C	SEC61A1	NM_013336.4(SEC61A1):c.468T>C:p.Phe156=	coding	Benign
3	128060598	A	G	A128060598G	SEC61A1	NM_013336.4(SEC61A1):c.553A>G:p.Thr185Ala	coding	Pathogenic
3	128069629	C	T	C128069629T	SEC61A1	NM_013336.4(SEC61A1):c.1398C>T:p.Ser466=	coding	Benign
3	128262143	G	A	G128262143A	EEFSEC	NM_021937.5(EEFSEC):c.540G>A:p.Pro180=	coding	Benign
3	128341750	C	T	C128341750T	EEFSEC	NM_021937.5(EEFSEC):c.1304C>T:p.Ala435Val	coding	Benign
3	128408210	T	G	T128408210G	EEFSEC	NM_021937.5(EEFSEC):c.1742T>G:p.Phe581Cys	coding	Benign
3	128408240	G	A	G128408240A	EEFSEC	NM_021937.5(EEFSEC):c.1772G>A:p.Arg591His	coding	Benign
3	128462789	T	G	T128462789G	DNAJB8	NM_153330.5(DNAJB8):c.457A>C:p.Met153Leu	coding	Benign
3	128462944	C	T	C128462944T	DNAJB8	NM_153330.5(DNAJB8):c.302G>A:p.Arg101Gln	coding	Benign
3	128463228	T	C	T128463228C	DNAJB8	NM_153330.5(DNAJB8):c.18A>G:p.Glu6=	coding	Benign
3	128479790	T	C	T128479790C	GATA2	NM_001145661.2(GATA2):c.*1229A>G	noncoding	Benign
3	128479939	C	T	C128479939T	GATA2	NM_001145661.2(GATA2):c.*1080G>A	noncoding	Benign
3	128480137	A	T	A128480137T	GATA2	NM_001145661.2(GATA2):c.*882T>A	noncoding	Benign
3	128480304	C	T	C128480304T	GATA2	NM_001145661.2(GATA2):c.*715G>A	noncoding	Benign
3	128480473	G	A	G128480473A	GATA2	NM_001145661.2(GATA2):c.*546C>T	noncoding	Benign
3	128480511	C	T	C128480511T	GATA2	NM_001145661.2(GATA2):c.*508G>A	noncoding	Benign
3	128480537	G	A	G128480537A	GATA2	NM_001145661.2(GATA2):c.*482C>T	noncoding	Benign
3	128480592	G	A	G128480592A	GATA2	NM_001145661.2(GATA2):c.*427C>T	noncoding	Benign
3	128480609	G	A	G128480609A	GATA2	NM_001145661.2(GATA2):c.*410C>T	noncoding	Benign
3	128480819	G	A	G128480819A	GATA2	NM_001145661.2(GATA2):c.*200C>T	noncoding	Benign
3	128480836	G	A	G128480836A	GATA2	NM_001145661.2(GATA2):c.*183C>T	noncoding	Benign
3	128480925	G	A	G128480925A	GATA2	NM_001145661.2(GATA2):c.*94C>T	noncoding	Benign
3	128480995	C	T	C128480995T	GATA2	NM_001145661.2(GATA2):c.*24G>A	noncoding	Benign
3	128481031	G	A	G128481031A	GATA2	NM_001145661.2(GATA2):c.1431C>T:p.Thr477=	coding	Benign
3	128481229	C	T	C128481229T	GATA2	NM_032638.5(GATA2):c.1233G>A:p.Ala411=	coding	Benign
3	128481270	G	A	G128481270A	GATA2	NM_001145661.2(GATA2):c.1192C>T:p.Arg398Trp	coding	Pathogenic
3	128481275	C	T	C128481275T	GATA2	NM_001145661.2(GATA2):c.1187G>A:p.Arg396Gln	coding	Pathogenic
3	128481276	G	A	G128481276A	GATA2	NM_032638.5(GATA2):c.1186C>T:p.Arg396Trp	coding	Pathogenic
3	128481289	T	C	T128481289C	GATA2	NM_001145661.2(GATA2):c.1173A>G:p.Glu391=	coding	Benign
3	128481616	T	C	T128481616C	GATA2	NM_001145661.2(GATA2):c.1143+203A>G	noncoding	Benign
3	128481845	A	G	A128481845G	GATA2	NM_001145661.2(GATA2):c.1117T>C:p.Cys373Arg	coding	Pathogenic
3	128481878	G	A	G128481878A	GATA2	NM_001145661.2(GATA2):c.1084C>T:p.Arg362Ter	coding	Pathogenic/Likely_pathogenic
3	128481880	C	A	C128481880A	GATA2	NM_001145661.2(GATA2):c.1082G>T:p.Arg361Leu	coding	Pathogenic
3	128481901	G	A	G128481901A	GATA2	NM_001145661.2(GATA2):c.1061C>T:p.Thr354Met	coding	Pathogenic
3	128481935	T	A	T128481935A	GATA2	NM_032638.5(GATA2):c.1027A>T:p.Arg343Ter	coding	Pathogenic/Likely_pathogenic
3	128481945	C	A	C128481945A	GATA2	NM_001145661.2(GATA2):c.1018-1G>T	coding	Pathogenic
3	128481963	G	A	G128481963A	GATA2	NM_001145661.2(GATA2):c.1018-19C>T	noncoding	Benign
3	128483288	G	A	G128483288A	GATA2	NM_001145661.2(GATA2):c.1017+572C>T	noncoding	Pathogenic
3	128483858	A	T	A128483858T	GATA2	NM_032638.5(GATA2):c.1017+2T>A	noncoding	Pathogenic
3	128483868	G	A	G128483868A	GATA2	NM_001145661.2(GATA2):c.1009C>T:p.Arg337Ter	coding	Pathogenic
3	128483889	G	A	G128483889A	GATA2	NM_001145661.2(GATA2):c.988C>T:p.Arg330Ter	coding	Pathogenic
3	128485837	G	A	G128485837A	GATA2	NM_001145661.2(GATA2):c.761C>T:p.Pro254Leu	coding	Pathogenic
3	128485850	G	C	G128485850C	GATA2	NM_001145661.2(GATA2):c.748C>G:p.Pro250Ala	coding	Benign
3	128485888	C	T	C128485888T	GATA2	NM_001145661.2(GATA2):c.710G>A:p.Gly237Asp	coding	Benign/Likely_benign
3	128485988	G	A	G128485988A	GATA2	NM_032638.5(GATA2):c.610C>T:p.Arg204Ter	coding	Pathogenic
3	128486034	C	G	C128486034G	GATA2	NM_001145661.2(GATA2):c.564G>C:p.Thr188=	coding	Benign
3	128486108	C	T	C128486108T	GATA2	NM_032638.5(GATA2):c.490G>A:p.Ala164Thr	coding	Benign
3	128486117	G	C	G128486117C	GATA2	NM_001145661.2(GATA2):c.481C>G:p.Pro161Ala	coding	Benign/Likely_benign
3	128486118	G	A	G128486118A	GATA2	NM_001145661.2(GATA2):c.480C>T:p.Thr160=	coding	Benign/Likely_benign
3	128486265	G	A	G128486265A	GATA2	NM_001145661.2(GATA2):c.333C>T:p.His111=	coding	Benign/Likely_benign
3	128486676	G	A	G128486676A	GATA2	NM_032638.5(GATA2):c.229+127C>T	noncoding	Benign
3	128486816	G	C	G128486816C	GATA2	NM_032638.5(GATA2):c.216C>G:p.Tyr72Ter	coding	Pathogenic
3	128486918	C	T	C128486918T	GATA2	NM_001145661.2(GATA2):c.114G>A:p.Gln38=	coding	Benign
3	128486966	G	C	G128486966C	GATA2	NM_001145661.2(GATA2):c.66C>G:p.Pro22=	coding	Benign/Likely_benign
3	128487017	G	C	G128487017C	GATA2	NM_032638.5(GATA2):c.15C>G:p.Pro5=	coding	Benign
3	128492907	G	A	G128492907A	GATA2	NM_032638.4(GATA2):c.-54C>T	noncoding	Benign
3	128492959	A	C	A128492959C	GATA2	NM_032638.4(GATA2):c.-106T>G	noncoding	Benign
3	128493129	A	C	A128493129C	GATA2	NM_032638.4(GATA2):c.-276T>G	noncoding	Benign
3	128620588	G	A	G128620588A	RPN1	NM_002950.4(RPN1):c.1647C>T:p.Ser549=	coding	Benign
3	128625535	T	C	T128625535C	RPN1	NM_002950.4(RPN1):c.1394A>G:p.Lys465Arg	coding	Benign
3	128637793	G	A	G128637793A	RPN1	NM_002950.4(RPN1):c.633+6C>T	noncoding	Benign
3	128637856	C	T	C128637856T	RPN1	NM_002950.4(RPN1):c.576G>A:p.Thr192=	coding	Benign
3	128726153	C	T	C128726153T	RAB7A	NM_004637.5(RAB7A):c.-215C>T	noncoding	Benign
3	128726253	C	T	C128726253T	RAB7A	NM_004637.5(RAB7A):c.-115C>T	noncoding	Benign
3	128726271	C	G	C128726271G	RAB7A	NM_004637.5(RAB7A):c.-97C>G	noncoding	Benign
3	128726339	G	T	G128726339T	RAB7A	NM_004637.5(RAB7A):c.-29G>T	noncoding	Benign
3	128795080	A	G	A128795080G	RAB7A	NM_004637.5(RAB7A):c.-8-280A>G	noncoding	Benign
3	128795218	T	G	T128795218G	RAB7A	NM_004637.5(RAB7A):c.-8-142T>G	noncoding	Benign
3	128797609	A	G	A128797609G	RAB7A	NM_004637.5(RAB7A):c.54-334A>G	noncoding	Benign
3	128797976	G	A	G128797976A	RAB7A	NM_004637.5(RAB7A):c.87G>A:p.Val29=	coding	Benign/Likely_benign
3	128806102	C	T	C128806102T	RAB7A	NM_004637.5(RAB7A):c.181-270C>T	noncoding	Benign
3	128806410	C	T	C128806410T	RAB7A	NM_004637.5(RAB7A):c.219C>T:p.Leu73=	coding	Benign
3	128806576	C	T	C128806576T	RAB7A	NM_004637.5(RAB7A):c.385C>T:p.Leu129Phe	coding	Pathogenic
3	128807364	A	G	A128807364G	RAB7A	NM_004637.5(RAB7A):c.400-179A>G	noncoding	Benign
3	128807566	C	G	C128807566G	RAB7A	NM_004637.5(RAB7A):c.423C>G:p.Ala141=	coding	Benign
3	128807614	G	T	G128807614T	RAB7A	NM_004637.6(RAB7A):c.471G>T:p.Lys157Asn	coding	Pathogenic
3	128807627	G	A	G128807627A	RAB7A	NM_004637.5(RAB7A):c.484G>A:p.Val162Met	coding	Pathogenic
3	128807638	G	A	G128807638A	RAB7A	NM_004637.5(RAB7A):c.495G>A:p.Ala165=	coding	Benign/Likely_benign
3	128813585	T	G	T128813585G	RAB7A	NM_004637.5(RAB7A):c.*163T>G	noncoding	Benign
3	128813611	A	G	A128813611G	RAB7A	NM_004637.5(RAB7A):c.*189A>G	noncoding	Benign
3	128813628	G	A	G128813628A	RAB7A	NM_004637.5(RAB7A):c.*206G>A	noncoding	Benign
3	128813651	C	T	C128813651T	RAB7A	NM_004637.6(RAB7A):c.*229C>T	noncoding	Benign
3	128814047	T	C	T128814047C	RAB7A	NM_004637.5(RAB7A):c.*625T>C	noncoding	Benign
3	128814268	A	G	A128814268G	RAB7A	NM_004637.6(RAB7A):c.*846A>G	noncoding	Benign
3	128814285	C	G	C128814285G	RAB7A	NM_004637.5(RAB7A):c.*863C>G	noncoding	Benign
3	128814419	T	C	T128814419C	RAB7A	NM_004637.5(RAB7A):c.*997T>C	noncoding	Benign
3	128814796	G	A	G128814796A	RAB7A	NM_004637.5(RAB7A):c.*1374G>A	noncoding	Benign
3	128879821	T	A	T128879821A	ACAD9	NM_014049.5(ACAD9):c.130T>A:p.Phe44Ile	coding	Pathogenic
3	128893719	A	G	A128893719G	ACAD9	NM_014049.5(ACAD9):c.346+63A>G	noncoding	Benign
3	128893816	G	C	G128893816C	ACAD9	NM_014049.5(ACAD9):c.346+160G>C	noncoding	Benign
3	128893987	C	A	C128893987A	ACAD9	NM_014049.5(ACAD9):c.346+331C>A	noncoding	Benign
3	128895161	G	A	G128895161A	ACAD9	NM_014049.5(ACAD9):c.347-149G>A	noncoding	Benign
3	128895290	C	T	C128895290T	ACAD9	NM_014049.5(ACAD9):c.347-20C>T	noncoding	Benign
3	128895342	A	C	A128895342C	ACAD9	NM_014049.5(ACAD9):c.379A>C:p.Arg127=	coding	Benign
3	128896417	C	A	C128896417A	ACAD9	NM_014049.5(ACAD9):c.454-19C>A	noncoding	Benign
3	128896491	C	T	C128896491T	ACAD9	NM_014049.5(ACAD9):c.509C>T:p.Ala170Val	coding	Pathogenic
3	128896492	G	A	G128896492A	ACAD9	NM_014049.5(ACAD9):c.510G>A:p.Ala170=	coding	Benign
3	128896556	G	A	G128896556A	ACAD9	NM_014049.5(ACAD9):c.554+20G>A	noncoding	Benign
3	128899440	T	C	T128899440C	ACAD9	NM_014049.5(ACAD9):c.787T>C:p.Leu263=	coding	Benign
3	128899450	G	A	G128899450A	ACAD9	NM_014049.5(ACAD9):c.797G>A:p.Arg266Gln	coding	Pathogenic
3	128901545	T	C	T128901545C	ACAD9	NM_014049.5(ACAD9):c.882+196T>C	noncoding	Benign
3	128901547	A	G	A128901547G	ACAD9	NM_014049.5(ACAD9):c.882+198A>G	noncoding	Benign
3	128902520	A	G	A128902520G	ACAD9	NM_014049.5(ACAD9):c.883-33A>G	noncoding	Benign
3	128903762	G	A	G128903762A	ACAD9	NM_014049.5(ACAD9):c.959-300G>A	noncoding	Benign
3	128903899	G	A	G128903899A	ACAD9	NM_014049.5(ACAD9):c.959-163G>A	noncoding	Benign
3	128904091	A	C	A128904091C	ACAD9	NM_014049.5(ACAD9):c.988A>C:p.Lys330Gln	coding	Benign/Likely_benign
3	128904385	G	T	G128904385T	ACAD9	NM_014049.5(ACAD9):c.1030-1G>T	noncoding	Pathogenic
3	128905929	T	C	T128905929C	ACAD9	NM_014049.5(ACAD9):c.1150-192T>C	noncoding	Benign
3	128906144	G	A	G128906144A	ACAD9	NM_014049.5(ACAD9):c.1173G>A:p.Trp391Ter	coding	Pathogenic
3	128906208	G	A	G128906208A	ACAD9	NM_014049.5(ACAD9):c.1237G>A:p.Glu413Lys	coding	Pathogenic/Likely_pathogenic
3	128906220	C	T	C128906220T	ACAD9	NM_014049.5(ACAD9):c.1249C>T:p.Arg417Cys	coding	Pathogenic
3	128906356	G	A	G128906356A	ACAD9	NM_014049.5(ACAD9):c.1278+107G>A	noncoding	Benign
3	128906399	C	T	C128906399T	ACAD9	NM_014049.5(ACAD9):c.1278+150C>T	noncoding	Benign
3	128906475	C	T	C128906475T	ACAD9	NM_014049.5(ACAD9):c.1278+226C>T	noncoding	Benign
3	128908178	A	G	A128908178G	ACAD9	NM_014049.5(ACAD9):c.1279-7A>G	noncoding	Benign
3	128908237	C	T	C128908237T	ACAD9	NM_014049.5(ACAD9):c.1331C>T:p.Ala444Val	coding	Benign/Likely_benign
3	128908416	T	C	T128908416C	ACAD9	NM_014049.5(ACAD9):c.1358+152T>C	noncoding	Benign
3	128908780	G	A	G128908780A	ACAD9	NM_014049.5(ACAD9):c.1359-193G>A	noncoding	Benign
3	128909043	C	T	C128909043T	ACAD9	NM_014049.5(ACAD9):c.1429C>T:p.Arg477Ter	coding	Pathogenic
3	128909044	G	A	G128909044A	ACAD9	NM_014049.5(ACAD9):c.1430G>A:p.Arg477Gln	coding	Benign
3	128909090	C	T	C128909090T	ACAD9	NM_014049.5(ACAD9):c.1476C>T:p.Pro492=	coding	Benign
3	128909156	T	C	T128909156C	ACAD9	NM_014049.5(ACAD9):c.1485+57T>C	noncoding	Benign
3	128909411	G	A	G128909411A	ACAD9	NM_014049.5(ACAD9):c.1553G>A:p.Arg518His	coding	Pathogenic
3	128909550	T	G	T128909550G	ACAD9	NM_014049.5(ACAD9):c.1563+129T>G	noncoding	Benign
3	128909966	A	G	A128909966G	ACAD9	NM_014049.5(ACAD9):c.1564-55A>G	noncoding	Benign
3	128910132	C	A	C128910132A	ACAD9	NM_014049.5(ACAD9):c.1675C>A:p.Arg559Ser	coding	Benign/Likely_benign
3	128910140	C	T	C128910140T	ACAD9	NM_014049.5(ACAD9):c.1683C>T:p.His561=	coding	Benign
3	128910144	C	G	C128910144G	ACAD9	NM_014049.5(ACAD9):c.1687C>G:p.His563Asp	coding	Pathogenic
3	128910294	G	C	G128910294C	ACAD9	NM_014049.5(ACAD9):c.1692+145G>C	noncoding	Benign
3	128910489	G	A	G128910489A	ACAD9	NM_014049.5(ACAD9):c.1693-252G>A	noncoding	Benign
3	128912633	C	T	C128912633T	ACAD9	NM_014049.5(ACAD9):c.*26C>T	noncoding	Benign
3	128912638	G	A	G128912638A	ACAD9	NM_014049.5(ACAD9):c.*31G>A	noncoding	Benign
3	128912675	C	T	C128912675T	ACAD9	NM_014049.5(ACAD9):c.*68C>T	noncoding	Benign
3	128912938	T	G	T128912938G	ACAD9	NM_014049.5(ACAD9):c.*331T>G	noncoding	Benign
3	129061545	T	C	T129061545C	GP9	NM_000174.5(GP9):c.-87T>C	noncoding	Benign
3	129061759	T	C	T129061759C	GP9	NM_000174.4(GP9):c.20T>C:p.Leu7Pro	coding	Pathogenic
3	129061809	T	C	T129061809C	GP9	NM_000174.4(GP9):c.70T>C:p.Cys24Arg	coding	Pathogenic
3	129061849	A	G	A129061849G	GP9	NM_000174.4(GP9):c.110A>G:p.Asp37Gly	coding	Pathogenic
3	129061862	C	T	C129061862T	GP9	NM_000174.4(GP9):c.123C>T:p.His41=	coding	Benign/Likely_benign
3	129061871	G	A	G129061871A	GP9	NM_000174.4(GP9):c.132G>A:p.Thr44=	coding	Benign
3	129061906	T	C	T129061906C	GP9	NM_000174.4(GP9):c.167T>C:p.Leu56Pro	coding	Pathogenic
3	129061921	A	G	A129061921G	GP9	NM_000174.4(GP9):c.182A>G:p.Asn61Ser	coding	Pathogenic/Likely_pathogenic
3	129061951	T	C	T129061951C	GP9	NM_000174.4(GP9):c.212T>C:p.Phe71Ser	coding	Pathogenic/Likely_pathogenic
3	129062184	T	C	T129062184C	GP9	NM_000174.4(GP9):c.445T>C:p.Leu149=	coding	Benign
3	129062205	G	A	G129062205A	GP9	NM_000174.4(GP9):c.466G>A:p.Ala156Thr	coding	Benign
3	129062280	C	T	C129062280T	GP9	NM_000174.4(GP9):c.*7C>T	noncoding	Benign/Likely_benign
3	129252908	C	T	C129252908T	COPG1	NM_016128.4(COPG1):c.276C>T:p.Ile92=	coding	Benign
3	129257850	G	A	G129257850A	COPG1	NM_016128.4(COPG1):c.861G>A:p.Pro287=	coding	Benign
3	129288847	G	A	G129288847A	HMCES	NM_020187.3(HMCES):c.184-7G>A	noncoding	Benign
3	129302010	C	T	C129302010T	HMCES	NM_020187.3(HMCES):c.696C>T:p.Val232=	coding	Benign
3	129432560	C	T	C129432560T	MBD4	NM_001276270.2(MBD4):c.1590G>A:p.Gly530=	coding	Benign
3	129440121	C	A	C129440121A	IFT122	NM_001280545.1(IFT122):c.-811C>A	noncoding	Benign
3	129440125	A	G	A129440125G	IFT122	NM_001280545.1(IFT122):c.-807A>G	noncoding	Benign
3	129440351	G	C	G129440351C	IFT122	NM_052989.3(IFT122):c.21G>C:p.Trp7Cys	coding	Pathogenic
3	129451899	T	C	T129451899C	IFT122	NM_052989.3(IFT122):c.109-15T>C	noncoding	Benign/Likely_benign
3	129451988	T	G	T129451988G	IFT122	NM_052989.3(IFT122):c.183T>G:p.Tyr61Ter	coding	Pathogenic
3	129461309	G	A	G129461309A	IFT122	NM_052989.3(IFT122):c.349+5G>A	noncoding	Pathogenic
3	129467081	G	A	G129467081A	IFT122	NM_052989.3(IFT122):c.740+15G>A	noncoding	Benign
3	129476323	G	T	G129476323T	IFT122	NM_052989.3(IFT122):c.825G>T:p.Lys275Asn	coding	Benign/Likely_benign
3	129476757	G	A	G129476757A	IFT122	NM_052989.3(IFT122):c.1103G>A:p.Ser368Asn	coding	Benign
3	129476767	C	T	C129476767T	IFT122	NM_052989.3(IFT122):c.1113C>T:p.Asp371=	coding	Benign
3	129476820	C	T	C129476820T	IFT122	NM_052989.3(IFT122):c.1147+19C>T	noncoding	Benign
3	129478015	G	C	G129478015C	IFT122	NM_052989.3(IFT122):c.1148-1G>C	noncoding	Pathogenic
3	129478107	G	A	G129478107A	IFT122	NM_052989.3(IFT122):c.1239G>A:p.Glu413=	coding	Benign
3	129478141	C	T	C129478141T	IFT122	NM_052989.3(IFT122):c.1273C>T:p.Arg425Trp	coding	Benign/Likely_benign
3	129481546	T	G	T129481546G	IFT122	NM_052989.3(IFT122):c.1505T>G:p.Val502Gly	coding	Pathogenic
3	129481574	G	A	G129481574A	IFT122	NM_052989.3(IFT122):c.1533G>A:p.Leu511=	coding	Benign/Likely_benign
3	129483473	C	T	C129483473T	IFT122	NM_052989.3(IFT122):c.1654-12C>T	noncoding	Benign
3	129483544	G	T	G129483544T	IFT122	NM_052989.3(IFT122):c.1713G>T:p.Ser571=	coding	Benign/Likely_benign
3	129488259	C	T	C129488259T	IFT122	NM_052989.3(IFT122):c.1854C>T:p.Ser618=	coding	Benign
3	129488313	T	C	T129488313C	IFT122	NM_052989.3(IFT122):c.1908T>C:p.Ile636=	coding	Benign/Likely_benign
3	129492133	C	T	C129492133T	IFT122	NM_052989.3(IFT122):c.1993-8C>T	noncoding	Benign/Likely_benign
3	129492134	G	C	G129492134C	IFT122	NM_052989.3(IFT122):c.1993-7G>C	noncoding	Benign
3	129492226	A	G	A129492226G	IFT122	NM_052989.3(IFT122):c.2046+32A>G	noncoding	Benign
3	129495459	G	A	G129495459A	IFT122	NM_052989.3(IFT122):c.2060G>A:p.Arg687Gln	coding	Benign/Likely_benign
3	129495553	C	T	C129495553T	IFT122	NM_052989.3(IFT122):c.2154C>T:p.His718=	coding	Benign
3	129499987	A	C	A129499987C	IFT122	NM_052989.3(IFT122):c.2294A>C:p.Lys765Thr	coding	Benign/Likely_benign
3	129500042	C	A	C129500042A	IFT122	NM_052989.3(IFT122):c.2349C>A:p.Ile783=	coding	Benign
3	129500070	T	C	T129500070C	IFT122	NM_052989.3(IFT122):c.2375+2T>C	noncoding	Pathogenic/Likely_pathogenic
3	129500101	G	T	G129500101T	IFT122	NM_052989.3(IFT122):c.2375+33G>T	noncoding	Benign
3	129502750	C	T	C129502750T	IFT122	NM_052989.3(IFT122):c.2415C>T:p.Arg805=	coding	Benign/Likely_benign
3	129502768	C	T	C129502768T	IFT122	NM_052989.3(IFT122):c.2433C>T:p.Cys811=	coding	Benign/Likely_benign
3	129504396	C	T	C129504396T	IFT122	NM_052989.3(IFT122):c.2625C>T:p.Asn875=	coding	Benign
3	129506440	G	A	G129506440A	IFT122	NM_052989.3(IFT122):c.2682G>A:p.Ala894=	coding	Benign
3	129514452	C	T	C129514452T	IFT122	NM_052989.3(IFT122):c.3051C>T:p.His1017=	coding	Benign
3	129515578	A	G	A129515578G	IFT122	NM_052989.3(IFT122):c.3244A>G:p.Ile1082Val	coding	Benign/Likely_benign
3	129515606	C	T	C129515606T	IFT122	NM_052989.3(IFT122):c.3265+7C>T	noncoding	Benign
3	129517506	G	T	G129517506T	IFT122	NM_052989.3(IFT122):c.3303G>T:p.Gly1101=	coding	Benign
3	129519147	C	T	C129519147T	IFT122	NM_052989.3(IFT122):c.3432C>T:p.Ile1144=	coding	Benign/Likely_benign
3	129519177	G	A	G129519177A	IFT122	NM_052989.3(IFT122):c.3462G>A:p.Leu1154=	coding	Benign
3	129528683	G	A	G129528683A	RHO	NM_000539.3(RHO):c.-51G>A	noncoding	Benign
3	129528708	A	G	A129528708G	RHO	NM_000539.3(RHO):c.-26A>G	noncoding	Benign
3	129528777	A	G	A129528777G	RHO	NM_000539.3(RHO):c.44A>G:p.Asn15Ser	coding	Pathogenic
3	129528783	C	T	C129528783T	RHO	NM_000539.3(RHO):c.50C>T:p.Thr17Met	coding	Pathogenic
3	129528786	G	A	G129528786A	RHO	NM_000539.3(RHO):c.53G>A:p.Gly18Asp	coding	Pathogenic
3	129528800	C	G	C129528800G	RHO	NM_000539.3(RHO):c.67C>G:p.Pro23Ala	coding	Pathogenic
3	129528801	C	A	C129528801A	RHO	NM_000539.3(RHO):c.68C>A:p.Pro23His	coding	Pathogenic
3	129528866	T	C	T129528866C	RHO	NM_000539.3(RHO):c.133T>C:p.Phe45Leu	coding	Pathogenic
3	129528870	T	G	T129528870G	RHO	NM_000539.3(RHO):c.137T>G:p.Leu46Arg	coding	Pathogenic
3	129528884	G	C	G129528884C	RHO	NM_000539.3(RHO):c.151G>C:p.Gly51Arg	coding	Pathogenic
3	129528885	G	C	G129528885C	RHO	NM_000539.3(RHO):c.152G>C:p.Gly51Ala	coding	Benign/Likely_benign
3	129528885	G	T	G129528885T	RHO	NM_000539.3(RHO):c.152G>T:p.Gly51Val	coding	Pathogenic
3	129528891	C	G	C129528891G	RHO	NM_000539.3(RHO):c.158C>G:p.Pro53Arg	coding	Pathogenic/Likely_pathogenic
3	129528906	C	G	C129528906G	RHO	NM_000539.3(RHO):c.173C>G:p.Thr58Arg	coding	Pathogenic/Likely_pathogenic
3	129528913	C	A	C129528913A	RHO	NM_000539.3(RHO):c.180C>A:p.Tyr60Ter	coding	Pathogenic/Likely_pathogenic
3	129528923	C	T	C129528923T	RHO	NM_000539.3(RHO):c.190C>T:p.Gln64Ter	coding	Pathogenic
3	129528951	A	G	A129528951G	RHO	NM_000539.3(RHO):c.218A>G:p.Asn73Ser	coding	Pathogenic
3	129528999	G	A	G129528999A	RHO	NM_000539.3(RHO):c.266G>A:p.Gly89Asp	coding	Pathogenic
3	129529002	G	A	G129529002A	RHO	NM_000539.3(RHO):c.269G>A:p.Gly90Asp	coding	Pathogenic
3	129529014	C	T	C129529014T	RHO	NM_000539.3(RHO):c.281C>T:p.Thr94Ile	coding	Pathogenic
3	129529035	G	T	G129529035T	RHO	NM_000539.3(RHO):c.302G>T:p.Gly101Val	coding	Pathogenic
3	129529049	G	A	G129529049A	RHO	NM_000539.3(RHO):c.316G>A:p.Gly106Arg	coding	Pathogenic/Likely_pathogenic
3	129529049	G	C	G129529049C	RHO	NM_000539.3(RHO):c.316G>C:p.Gly106Arg	coding	Pathogenic
3	129529058	G	A	G129529058A	RHO	NM_000539.3(RHO):c.325G>A:p.Gly109Arg	coding	Pathogenic/Likely_pathogenic
3	129529061	T	C	T129529061C	RHO	NM_000539.3(RHO):c.328T>C:p.Cys110Arg	coding	Pathogenic
3	129529062	G	A	G129529062A	RHO	NM_000539.3(RHO):c.329G>A:p.Cys110Tyr	coding	Pathogenic
3	129529074	G	A	G129529074A	RHO	NM_000539.3(RHO):c.341G>A:p.Gly114Asp	coding	Pathogenic
3	129529074	G	T	G129529074T	RHO	NM_000539.3(RHO):c.341G>T:p.Gly114Val	coding	Pathogenic
3	129529093	C	T	C129529093T	RHO	NM_000539.3(RHO):c.360C>T:p.Gly120=	coding	Benign/Likely_benign
3	129530895	C	G	C129530895G	RHO	NM_000539.3(RHO):c.381C>G:p.Ser127=	coding	Benign/Likely_benign
3	129530906	T	C	T129530906C	RHO	NM_000539.3(RHO):c.392T>C:p.Leu131Pro	coding	Pathogenic/Likely_pathogenic
3	129530917	C	T	C129530917T	RHO	NM_000539.3(RHO):c.403C>T:p.Arg135Trp	coding	Pathogenic
3	129530918	G	T	G129530918T	RHO	NM_000539.3(RHO):c.404G>T:p.Arg135Leu	coding	Pathogenic
3	129530922	C	A	C129530922A	RHO	NM_000539.3(RHO):c.408C>A:p.Tyr136Ter	coding	Pathogenic/Likely_pathogenic
3	129530962	G	A	G129530962A	RHO	NM_000539.3(RHO):c.448G>A:p.Glu150Lys	coding	Pathogenic/Likely_pathogenic
3	129530996	G	A	G129530996A	RHO	NM_000539.3(RHO):c.482G>A:p.Trp161Ter	coding	Pathogenic
3	129531005	C	A	C129531005A	RHO	NM_000539.3(RHO):c.491C>A:p.Ala164Glu	coding	Pathogenic
3	129531005	C	T	C129531005T	RHO	NM_000539.3(RHO):c.491C>T:p.Ala164Val	coding	Pathogenic/Likely_pathogenic
3	129531015	C	G	C129531015G	RHO	NM_000539.3(RHO):c.501C>G:p.Cys167Trp	coding	Pathogenic
3	129531023	C	G	C129531023G	RHO	NM_000539.3(RHO):c.509C>G:p.Pro170Arg	coding	Pathogenic/Likely_pathogenic
3	129531025	C	T	C129531025T	RHO	NM_000539.3(RHO):c.511C>T:p.Pro171Ser	coding	Pathogenic
3	129531026	C	A	C129531026A	RHO	NM_000539.3(RHO):c.512C>A:p.Pro171Gln	coding	Pathogenic
3	129531026	C	T	C129531026T	RHO	NM_000539.3(RHO):c.512C>T:p.Pro171Leu	coding	Pathogenic
3	129531033	C	T	C129531033T	RHO	NM_000539.3(RHO):c.519C>T:p.Ala173=	coding	Benign/Likely_benign
3	129531034	G	A	G129531034A	RHO	NM_000539.3(RHO):c.520G>A:p.Gly174Ser	coding	Pathogenic
3	129532253	A	G	A129532253G	RHO	NM_000539.3(RHO):c.533A>G:p.Tyr178Cys	coding	Pathogenic/Likely_pathogenic
3	129532258	C	T	C129532258T	RHO	NM_000539.3(RHO):c.538C>T:p.Pro180Ser	coding	Pathogenic
3	129532261	G	A	G129532261A	RHO	NM_000539.3(RHO):c.541G>A:p.Glu181Lys	coding	Pathogenic/Likely_pathogenic
3	129532264	G	A	G129532264A	RHO	NM_000539.3(RHO):c.544G>A:p.Gly182Ser	coding	Pathogenic
3	129532277	C	G	C129532277G	RHO	NM_000539.3(RHO):c.557C>G:p.Ser186Trp	coding	Pathogenic
3	129532278	G	A	G129532278A	RHO	NM_000539.3(RHO):c.558G>A:p.Ser186=	coding	Benign
3	129532280	G	A	G129532280A	RHO	NM_000539.3(RHO):c.560G>A:p.Cys187Tyr	coding	Pathogenic/Likely_pathogenic
3	129532282	G	A	G129532282A	RHO	NM_000539.3(RHO):c.562G>A:p.Gly188Arg	coding	Pathogenic
3	129532283	G	A	G129532283A	RHO	NM_000539.3(RHO):c.563G>A:p.Gly188Glu	coding	Pathogenic/Likely_pathogenic
3	129532288	G	A	G129532288A	RHO	NM_000539.3(RHO):c.568G>A:p.Asp190Asn	coding	Pathogenic
3	129532288	G	T	G129532288T	RHO	NM_000539.3(RHO):c.568G>T:p.Asp190Tyr	coding	Pathogenic/Likely_pathogenic
3	129532289	A	G	A129532289G	RHO	NM_000539.3(RHO):c.569A>G:p.Asp190Gly	coding	Pathogenic
3	129532340	T	G	T129532340G	RHO	NM_000539.3(RHO):c.620T>G:p.Met207Arg	coding	Pathogenic
3	129532352	A	G	A129532352G	RHO	NM_000539.3(RHO):c.632A>G:p.His211Arg	coding	Pathogenic
3	129532364	C	T	C129532364T	RHO	NM_000539.3(RHO):c.644C>T:p.Pro215Leu	coding	Pathogenic
3	129532420	C	T	C129532420T	RHO	NM_000539.3(RHO):c.696+4C>T	noncoding	Benign
3	129532636	C	T	C129532636T	RHO	NM_000539.3(RHO):c.800C>T:p.Pro267Leu	coding	Pathogenic
3	129532711	C	A	C129532711A	RHO	NM_000539.3(RHO):c.875C>A:p.Ala292Glu	coding	Pathogenic
3	129532722	A	G	A129532722G	RHO	NM_000539.3(RHO):c.886A>G:p.Lys296Glu	coding	Pathogenic
3	129532724	G	C	G129532724C	RHO	NM_000539.3(RHO):c.888G>C:p.Lys296Asn	coding	Pathogenic/Likely_pathogenic
3	129532727	C	G	C129532727G	RHO	NM_000539.3(RHO):c.891C>G:p.Ser297Arg	coding	Pathogenic
3	129532727	C	T	C129532727T	RHO	NM_000539.3(RHO):c.891C>T:p.Ser297=	coding	Benign/Likely_benign
3	129532773	G	T	G129532773T	RHO	NM_000539.3(RHO):c.936+1G>T	coding	Pathogenic/Likely_pathogenic
3	129533606	A	T	A129533606T	RHO	NM_000539.3(RHO):c.937-2A>T	noncoding	Pathogenic
3	129533640	C	T	C129533640T	RHO	NM_000539.3(RHO):c.969C>T:p.Cys323=	coding	Benign/Likely_benign
3	129533699	G	A	G129533699A	RHO	NM_000539.3(RHO):c.1028G>A:p.Ser343Asn	coding	Pathogenic/Likely_pathogenic
3	129533701	C	T	C129533701T	RHO	NM_000539.3(RHO):c.1030C>T:p.Gln344Ter	coding	Pathogenic
3	129533704	G	A	G129533704A	RHO	NM_000539.3(RHO):c.1033G>A:p.Val345Met	coding	Pathogenic/Likely_pathogenic
3	129533704	G	C	G129533704C	RHO	NM_000539.3(RHO):c.1033G>C:p.Val345Leu	coding	Pathogenic
3	129533704	G	T	G129533704T	RHO	NM_000539.3(RHO):c.1033G>T:p.Val345Leu	coding	Pathogenic
3	129533710	C	T	C129533710T	RHO	NM_000539.3(RHO):c.1039C>T:p.Pro347Ser	coding	Pathogenic
3	129533711	C	A	C129533711A	RHO	NM_000539.3(RHO):c.1040C>A:p.Pro347Gln	coding	Pathogenic
3	129533711	C	G	C129533711G	RHO	NM_000539.3(RHO):c.1040C>G:p.Pro347Arg	coding	Pathogenic/Likely_pathogenic
3	129533711	C	T	C129533711T	RHO	NM_000539.3(RHO):c.1040C>T:p.Pro347Leu	coding	Pathogenic/Likely_pathogenic
3	129533751	C	T	C129533751T	RHO	NM_000539.3(RHO):c.*33C>T	noncoding	Benign/Likely_benign
3	129533761	C	A	C129533761A	RHO	NM_000539.3(RHO):c.*43C>A	noncoding	Benign
3	129533923	C	T	C129533923T	RHO	NM_000539.3(RHO):c.*205C>T	noncoding	Benign/Likely_benign
3	129533950	A	G	A129533950G	RHO	NM_000539.3(RHO):c.*232A>G	noncoding	Benign
3	129534031	C	T	C129534031T	RHO	NM_000539.3(RHO):c.*313C>T	noncoding	Benign
3	129534185	A	G	A129534185G	RHO	NM_000539.3(RHO):c.*467A>G	noncoding	Benign/Likely_benign
3	129534206	T	C	T129534206C	RHO	NM_000539.3(RHO):c.*488T>C	noncoding	Benign
3	129534643	T	C	T129534643C	RHO	NM_000539.3(RHO):c.*925T>C	noncoding	Benign
3	129534817	G	A	G129534817A	RHO	NM_000539.3(RHO):c.*1099G>A	noncoding	Benign
3	129534918	T	C	T129534918C	RHO	NM_000539.3(RHO):c.*1200T>C	noncoding	Benign/Likely_benign
3	129534996	G	T	G129534996T	RHO	NM_000539.3(RHO):c.*1278G>T	noncoding	Benign
3	129535319	C	T	C129535319T	RHO	NM_000539.3(RHO):c.*1601C>T	noncoding	Benign
3	129560431	G	T	G129560431T	PLXND1	NM_015103.2(PLXND1):c.5032C>A:p.Leu1678Met	coding	Benign
3	129563109	G	T	G129563109T	PLXND1	NM_015103.2(PLXND1):c.4653C>A:p.Ile1551=	coding	Benign
3	129567483	C	T	C129567483T	PLXND1	NM_015103.2(PLXND1):c.4086+9G>A	noncoding	Benign
3	129570895	C	T	C129570895T	PLXND1	NM_015103.2(PLXND1):c.3641G>A:p.Arg1214Gln	coding	Benign
3	129571135	G	A	G129571135A	PLXND1	NM_015103.2(PLXND1):c.3505C>T:p.Arg1169Cys	coding	Benign
3	129571196	G	A	G129571196A	PLXND1	NM_015103.2(PLXND1):c.3444C>T:p.Asp1148=	coding	Benign
3	129571706	C	T	C129571706T	PLXND1	NM_015103.2(PLXND1):c.3216G>A:p.Thr1072=	coding	Benign
3	129572752	T	C	T129572752C	PLXND1	NM_015103.2(PLXND1):c.2938-4A>G	noncoding	Benign
3	129572832	C	A	C129572832A	PLXND1	NM_015103.2(PLXND1):c.2937+10G>T	noncoding	Benign
3	129572861	C	T	C129572861T	PLXND1	NM_015103.2(PLXND1):c.2918G>A:p.Arg973Gln	coding	Benign
3	129572905	G	C	G129572905C	PLXND1	NM_015103.2(PLXND1):c.2874C>G:p.Leu958=	coding	Benign
3	129573602	C	T	C129573602T	PLXND1	NM_015103.2(PLXND1):c.2829G>A:p.Val943=	coding	Benign
3	129573719	G	A	G129573719A	PLXND1	NM_015103.2(PLXND1):c.2712C>T:p.Asp904=	coding	Benign
3	129574348	G	A	G129574348A	PLXND1	NM_015103.2(PLXND1):c.2673C>T:p.Pro891=	coding	Benign
3	129574473	C	T	C129574473T	PLXND1	NM_015103.2(PLXND1):c.2548G>A:p.Ala850Thr	coding	Benign
3	129578400	G	A	G129578400A	PLXND1	NM_015103.2(PLXND1):c.2275C>T:p.Pro759Ser	coding	Benign
3	129583646	T	C	T129583646C	PLXND1	NM_015103.2(PLXND1):c.2162A>G:p.Gln721Arg	coding	Benign
3	129584434	G	A	G129584434A	PLXND1	NM_015103.2(PLXND1):c.1980C>T:p.Tyr660=	coding	Benign
3	129586616	C	A	C129586616A	PLXND1	NM_015103.2(PLXND1):c.1592G>T:p.Gly531Val	coding	Benign
3	129586664	T	C	T129586664C	PLXND1	NM_015103.2(PLXND1):c.1544A>G:p.Tyr515Cys	coding	Benign
3	129586695	C	G	C129586695G	PLXND1	NM_015103.2(PLXND1):c.1513G>C:p.Val505Leu	coding	Benign
3	129586697	T	C	T129586697C	PLXND1	NM_015103.2(PLXND1):c.1511A>G:p.Gln504Arg	coding	Benign
3	129586707	C	T	C129586707T	PLXND1	NM_015103.2(PLXND1):c.1501G>A:p.Glu501Lys	coding	Benign
3	129605793	A	G	A129605793G	PLXND1	NM_015103.2(PLXND1):c.847T>C:p.Phe283Leu	coding	Benign
3	129605860	G	C	G129605860C	PLXND1	NM_015103.2(PLXND1):c.780C>G:p.Ser260=	coding	Benign
3	129975838	C	G	C129975838G	TRH	NM_007117.5(TRH):c.22C>G:p.Leu8Val	coding	Benign
3	129976695	C	T	C129976695T	TRH	NM_007117.5(TRH):c.212-4C>T	noncoding	Benign
3	129976735	G	A	G129976735A	TRH	NM_007117.5(TRH):c.248G>A:p.Arg83His	coding	Benign/Likely_benign
3	129976871	T	C	T129976871C	TRH	NM_007117.5(TRH):c.384T>C:p.Asp128=	coding	Benign
3	129977050	C	T	C129977050T	TRH	NM_007117.5(TRH):c.563C>T:p.Pro188Leu	coding	Benign
3	129977087	G	A	G129977087A	TRH	NM_007117.5(TRH):c.600G>A:p.Gln200=	coding	Benign
3	129977111	T	C	T129977111C	TRH	NM_007117.5(TRH):c.624T>C:p.Leu208=	coding	Benign
3	129977182	G	A	G129977182A	TRH	NM_007117.5(TRH):c.695G>A:p.Arg232Gln	coding	Benign
3	129977198	A	G	A129977198G	TRH	NM_007117.5(TRH):c.711A>G:p.Arg237=	coding	Benign
3	130376649	C	T	C130376649T	COL6A5	NM_153264.6(COL6A5):c.480C>T:p.Asp160=	coding	Benign
3	130388639	A	C	A130388639C	COL6A5	NM_153264.6(COL6A5):c.1921A>C:p.Asn641His	coding	Benign
3	130468818	G	T	G130468818T	COL6A5	NM_153264.6(COL6A5):c.6814G>T:p.Glu2272Ter	coding	Benign
3	130469277	G	A	G130469277A	COL6A5	NM_153264.6(COL6A5):c.7273G>A:p.Val2425Ile	coding	Benign
3	130471872	G	A	G130471872A	COL6A5	NM_153264.6(COL6A5):c.7574+905G>A	coding	Benign
3	130560427	C	T	C130560427T	COL6A6	NM_001102608.2(COL6A6):c.63C>T:p.Ser21=	coding	Benign
3	130563467	G	A	G130563467A	COL6A6	NM_001102608.2(COL6A6):c.464G>A:p.Arg155Gln	coding	Benign
3	130563563	G	A	G130563563A	COL6A6	NM_001102608.2(COL6A6):c.560G>A:p.Arg187Gln	coding	Benign
3	130565219	T	C	T130565219C	COL6A6	NM_001102608.2(COL6A6):c.887T>C:p.Ile296Thr	coding	Benign
3	130566842	G	A	G130566842A	COL6A6	NM_001102608.2(COL6A6):c.1423G>A:p.Val475Ile	coding	Benign
3	130567039	C	T	C130567039T	COL6A6	NM_001102608.2(COL6A6):c.1620C>T:p.His540=	coding	Benign
3	130567195	C	T	C130567195T	COL6A6	NM_001102608.2(COL6A6):c.1776C>T:p.Tyr592=	coding	Benign
3	130568252	C	T	C130568252T	COL6A6	NM_001102608.2(COL6A6):c.2049C>T:p.Ser683=	coding	Benign
3	130570828	G	T	G130570828T	COL6A6	NM_001102608.2(COL6A6):c.2412G>T:p.Arg804=	coding	Benign
3	130571397	A	T	A130571397T	COL6A6	NM_001102608.2(COL6A6):c.2977+4A>T	noncoding	Benign
3	130574500	C	T	C130574500T	COL6A6	NM_001102608.2(COL6A6):c.3522C>T:p.Asn1174=	coding	Benign
3	130593087	C	T	C130593087T	COL6A6	NM_001102608.2(COL6A6):c.4398C>T:p.Asp1466=	coding	Benign
3	130598428	C	A	C130598428A	COL6A6	NM_001102608.2(COL6A6):c.4597C>A:p.Gln1533Lys	coding	Benign
3	130599777	C	A	C130599777A	COL6A6	NM_001102608.2(COL6A6):c.4620C>A:p.Gly1540=	coding	Benign
3	130649254	G	A	G130649254A	COL6A6	NM_001102608.2(COL6A6):c.5425G>A:p.Ala1809Thr	coding	Benign
3	130658681	C	T	C130658681T	COL6A6	NM_001102608.2(COL6A6):c.5739C>T:p.Asp1913=	coding	Benign
3	130661756	A	G	A130661756G	COL6A6	NM_001102608.2(COL6A6):c.5950A>G:p.Ile1984Val	coding	Benign
3	130662308	C	T	C130662308T	COL6A6	NM_001102608.2(COL6A6):c.6502C>T:p.Arg2168Cys	coding	Benign
3	130690650	T	C	T130690650C	PIK3R4	NM_014602.3(PIK3R4):c.3103A>G:p.Ile1035Val	coding	Benign
3	130716602	A	G	A130716602G	PIK3R4	NM_014602.3(PIK3R4):c.2128-3T>C	noncoding	Benign
3	130718421	G	C	G130718421C	PIK3R4	NM_014602.3(PIK3R4):c.2095C>G:p.Leu699Val	coding	Benign
3	130730452	A	G	A130730452G	PIK3R4	NM_014602.3(PIK3R4):c.1451-10T>C	noncoding	Benign
3	130733656	C	T	C130733656T	PIK3R4	NM_014602.3(PIK3R4):c.1342G>A:p.Val448Ile	coding	Benign
3	130744880	G	A	G130744880A	PIK3R4	NM_014602.3(PIK3R4):c.339C>T:p.Arg113=	coding	Benign
3	130894557	C	A	C130894557A	ATP2C1	NM_014382.4(ATP2C1):c.-213C>A	coding	Benign
3	130894737	T	C	T130894737C	ATP2C1	NM_001001486.2(ATP2C1):c.-33T>C	coding	Benign
3	130894790	C	G	C130894790G	ATP2C1	NM_014382.4(ATP2C1):c.6+15C>G	noncoding	Benign
3	130930533	G	A	G130930533A	ATP2C1	NM_014382.4(ATP2C1):c.117+7G>A	noncoding	Benign
3	130941625	C	T	C130941625T	ATP2C1	NM_001001486.2(ATP2C1):c.457C>T:p.Arg153Ter	coding	Pathogenic
3	130941709	G	A	G130941709A	ATP2C1	NM_014382.4(ATP2C1):c.531+10G>A	noncoding	Benign
3	130953874	T	C	T130953874C	ATP2C1	NM_014382.4(ATP2C1):c.585T>C:p.Cys195=	coding	Benign
3	130953924	C	T	C130953924T	ATP2C1	NM_001001486.2(ATP2C1):c.635C>T:p.Ser212Leu	coding	Benign
3	130953925	G	A	G130953925A	ATP2C1	NM_014382.4(ATP2C1):c.636G>A:p.Ser212=	coding	Benign
3	130955015	G	A	G130955015A	ATP2C1	NM_014382.4(ATP2C1):c.691G>A:p.Val231Ile	coding	Benign
3	130956129	G	A	G130956129A	ATP2C1	NM_014382.4(ATP2C1):c.782G>A:p.Ser261Asn	coding	Benign
3	130959276	A	G	A130959276G	ATP2C1	NM_014382.4(ATP2C1):c.834A>G:p.Gly278=	coding	Benign
3	130963970	G	A	G130963970A	ATP2C1	NM_014382.4(ATP2C1):c.900-1G>A	noncoding	Pathogenic
3	130963981	G	A	G130963981A	ATP2C1	NM_014382.4(ATP2C1):c.910G>A:p.Ala304Thr	coding	Pathogenic
3	130969331	G	A	G130969331A	ATP2C1	NM_014382.4(ATP2C1):c.1348G>A:p.Ala450Thr	coding	Benign
3	130969385	C	T	C130969385T	ATP2C1	NM_014382.4(ATP2C1):c.1402C>T:p.Arg468Ter	coding	Pathogenic
3	130975387	G	T	G130975387T	ATP2C1	NM_014382.4(ATP2C1):c.1469G>T:p.Cys490Phe	coding	Pathogenic
3	130975497	A	G	A130975497G	ATP2C1	NM_014382.4(ATP2C1):c.1570+9A>G	noncoding	Benign
3	130979301	G	C	G130979301C	ATP2C1	NM_014382.4(ATP2C1):c.1623G>C:p.Leu541Phe	coding	Benign
3	130979361	C	T	C130979361T	ATP2C1	NM_014382.4(ATP2C1):c.1683C>T:p.Ala561=	coding	Benign
3	130980591	T	C	T130980591C	ATP2C1	NM_014382.4(ATP2C1):c.1751T>C:p.Leu584Pro	coding	Pathogenic
3	130992939	G	A	G130992939A	ATP2C1	NM_014382.4(ATP2C1):c.1840-12G>A	noncoding	Benign
3	130994105	T	A	T130994105A	ATP2C1	NM_014382.4(ATP2C1):c.2057+7T>A	noncoding	Benign
3	130996750	C	T	C130996750T	ATP2C1	NM_014382.4(ATP2C1):c.2197C>T:p.Gln733Ter	coding	Pathogenic
3	130999628	G	A	G130999628A	ATP2C1	NM_014382.4(ATP2C1):c.2598G>A:p.Lys866=	coding	Benign
3	131002036	G	A	G131002036A	ATP2C1	NM_014382.4(ATP2C1):c.*686G>A	coding	Benign
3	131002348	C	T	C131002348T	ATP2C1	NM_014382.4(ATP2C1):c.*998C>T	coding	Benign
3	131002895	A	G	A131002895G	ATP2C1	NM_001001486.2(ATP2C1):c.2754+1551A>G	coding	Benign
3	131003170	A	G	A131003170G	ATP2C1	NM_014382.4(ATP2C1):c.*1820A>G	coding	Benign
3	131003189	A	G	A131003189G	ATP2C1	NM_014382.4(ATP2C1):c.*1839A>G	coding	Benign
3	131273559	T	A	T131273559A	NEK11	NM_024800.5(NEK11):c.1703T>A:p.Met568Lys	coding	Benign
3	131382112	C	G	C131382112G	NUDT16	NM_152395.3(NUDT16):c.205C>G:p.Leu69Val	coding	Benign
3	131382494	G	A	G131382494A	NUDT16	NM_152395.3(NUDT16):c.408+179G>A	coding	Benign
3	131462820	G	C	G131462820C	MRPL3	NM_007208.4(MRPL3):c.950C>G:p.Pro317Arg	coding	Pathogenic
3	131462825	T	C	T131462825C	MRPL3	NM_007208.4(MRPL3):c.945A>G:p.Pro315=	coding	Benign
3	131468099	A	G	A131468099G	MRPL3	NM_007208.4(MRPL3):c.886T>C:p.Leu296=	coding	Benign
3	131469684	T	G	T131469684G	MRPL3	NM_007208.4(MRPL3):c.816+12A>C	noncoding	Benign
3	131469730	A	G	A131469730G	MRPL3	NM_007208.4(MRPL3):c.782T>C:p.Met261Thr	coding	Benign
3	131471128	T	C	T131471128C	MRPL3	NM_007208.4(MRPL3):c.738+43A>G	noncoding	Benign
3	131487679	C	T	C131487679T	MRPL3	NM_007208.4(MRPL3):c.629+1G>A	noncoding	Pathogenic
3	131489749	C	T	C131489749T	MRPL3	NM_007208.4(MRPL3):c.568+232G>A	noncoding	Benign
3	131500226	C	T	C131500226T	MRPL3	NM_007208.4(MRPL3):c.369+204G>A	noncoding	Benign
3	131500238	G	C	G131500238C	MRPL3	NM_007208.4(MRPL3):c.369+192C>G	noncoding	Benign
3	131501280	T	A	T131501280A	MRPL3	NM_007208.4(MRPL3):c.277+251A>T	noncoding	Benign
3	131501384	A	T	A131501384T	MRPL3	NM_007208.4(MRPL3):c.277+147T>A	noncoding	Benign
3	131501513	C	T	C131501513T	MRPL3	NM_007208.4(MRPL3):c.277+18G>A	noncoding	Benign
3	131501527	T	G	T131501527G	MRPL3	NM_007208.4(MRPL3):c.277+4A>C	noncoding	Benign
3	131501706	G	A	G131501706A	MRPL3	NM_007208.4(MRPL3):c.102C>T:p.Ile34=	coding	Benign
3	132332272	T	C	T132332272C	ACP3	NM_001099.5(ACP3):c.384T>C:p.Gly128=	coding	Benign
3	132352758	T	G	T132352758G	ACP3	NM_001099.5(ACP3):c.903T>G:p.Asp301Glu	coding	Benign
3	132474926	G	A	G132474926A	DNAJC13	NM_015268.4(DNAJC13):c.2292-6G>A	noncoding	Benign
3	132479253	G	A	G132479253A	DNAJC13	NM_015268.4(DNAJC13):c.2736G>A:p.Arg912=	coding	Benign
3	132482333	A	G	A132482333G	DNAJC13	NM_015268.4(DNAJC13):c.2979+3A>G	noncoding	Benign
3	132491022	T	C	T132491022C	DNAJC13	NM_015268.4(DNAJC13):c.3594T>C:p.Thr1198=	coding	Benign
3	132495088	G	A	G132495088A	DNAJC13	NM_015268.4(DNAJC13):c.3942G>A:p.Pro1314=	coding	Benign
3	132499274	C	T	C132499274T	DNAJC13	NM_015268.4(DNAJC13):c.4305C>T:p.Leu1435=	coding	Benign
3	132499777	G	A	G132499777A	DNAJC13	NM_015268.4(DNAJC13):c.4385G>A:p.Arg1462His	coding	Benign
3	132502298	C	T	C132502298T	DNAJC13	NM_015268.4(DNAJC13):c.4546C>T:p.Arg1516Cys	coding	Benign
3	132503310	A	G	A132503310G	DNAJC13	NM_015268.4(DNAJC13):c.4813A>G:p.Ile1605Val	coding	Benign
3	132513106	G	A	G132513106A	DNAJC13	NM_015268.4(DNAJC13):c.5385+7G>A	noncoding	Benign
3	132523168	A	C	A132523168C	DNAJC13	NM_015268.4(DNAJC13):c.5855A>C:p.Asn1952Thr	coding	Benign
3	132523209	A	G	A132523209G	DNAJC13	NM_015268.4(DNAJC13):c.5886+10A>G	noncoding	Benign
3	132523587	T	G	T132523587G	DNAJC13	NM_015268.4(DNAJC13):c.5934T>G:p.Leu1978=	coding	Benign
3	132523632	C	T	C132523632T	DNAJC13	NM_015268.4(DNAJC13):c.5979C>T:p.Ala1993=	coding	Benign
3	132538170	T	C	T132538170C	DNAJC13	NM_015268.4(DNAJC13):c.6626-6T>C	noncoding	Benign
3	132538225	G	A	G132538225A	DNAJC13	NM_015268.4(DNAJC13):c.6675G>A:p.Met2225Ile	coding	Benign
3	132665825	G	A	G132665825A	UBA5	NM_198329.3(UBA5):c.-5G>A	coding	Pathogenic
3	132665830	A	G	A132665830G	UBA5	NM_001321238.1(UBA5):c.28-2988A>G	coding	Pathogenic
3	132665842	C	T	C132665842T	UBA5	NM_001321238.1(UBA5):c.28-2976C>T	coding	Pathogenic
3	132670973	G	A	G132670973A	UBA5	NM_024818.4(UBA5):c.503G>A:p.Gly168Glu	coding	Pathogenic
3	132671880	C	T	C132671880T	UBA5	NM_198329.3(UBA5):c.515C>T:p.Ala172Val	coding	Benign
3	132672101	C	T	C132672101T	UBA5	NM_024818.4(UBA5):c.736C>T:p.Arg246Ter	coding	Pathogenic
3	132672143	G	A	G132672143A	UBA5	NM_024818.4(UBA5):c.778G>A:p.Val260Met	coding	Pathogenic
3	132675290	C	A	C132675290A	UBA5	NM_024818.4(UBA5):c.855C>A:p.Tyr285Ter	coding	Pathogenic
3	132675339	C	T	C132675339T	UBA5	NM_024818.4(UBA5):c.904C>T:p.Gln302Ter	coding	Pathogenic
3	132675363	A	G	A132675363G	UBA5	NM_024818.4(UBA5):c.928A>G:p.Lys310Glu	coding	Pathogenic
3	132675374	G	A	G132675374A	UBA5	NM_198329.3(UBA5):c.771G>A:p.Glu257=	coding	Benign
3	132675903	G	A	G132675903A	UBA5	NM_024818.4(UBA5):c.1111G>A:p.Ala371Thr	coding	Pathogenic
3	132675925	T	C	T132675925C	UBA5;NPHP3-ACAD11	NM_024818.5(UBA5):c.1131+2T>C	noncoding	Pathogenic
3	132676476	G	T	G132676476T	UBA5	NM_024818.4(UBA5):c.1165G>T:p.Asp389Tyr	coding	Pathogenic
3	132681125	C	T	C132681125T	NPHP3	NM_153240.5(NPHP3):c.*785G>A	noncoding	Benign/Likely_benign
3	132681253	G	A	G132681253A	NPHP3	NM_153240.5(NPHP3):c.*657C>T	noncoding	Benign
3	132681644	C	T	C132681644T	NPHP3	NM_153240.5(NPHP3):c.*266G>A	noncoding	Benign/Likely_benign
3	132681962	C	G	C132681962G	NPHP3	NM_153240.5(NPHP3):c.3941G>C:p.Ser1314Thr	coding	Benign/Likely_benign
3	132681990	G	A	G132681990A	NPHP3	NM_153240.5(NPHP3):c.3913C>T:p.Arg1305Cys	coding	Benign/Likely_benign
3	132682413	A	G	A132682413G	NPHP3	NM_153240.5(NPHP3):c.3812+290T>C	noncoding	Benign
3	132682577	G	A	G132682577A	NPHP3	NM_153240.5(NPHP3):c.3812+126C>T	noncoding	Benign
3	132682661	G	A	G132682661A	NPHP3	NM_153240.5(NPHP3):c.3812+42C>T	noncoding	Benign
3	132682702	C	A	C132682702A	NPHP3	NM_153240.5(NPHP3):c.3812+1G>T	noncoding	Pathogenic
3	132682756	C	T	C132682756T	NPHP3	NM_153240.5(NPHP3):c.3759G>A:p.Leu1253=	coding	Benign
3	132683431	A	G	A132683431G	NPHP3	NM_153240.5(NPHP3):c.3664T>C:p.Leu1222=	coding	Benign/Likely_benign
3	132683432	G	A	G132683432A	NPHP3	NM_153240.5(NPHP3):c.3663C>T:p.Ala1221=	coding	Benign/Likely_benign
3	132683476	G	A	G132683476A	NPHP3	NM_153240.5(NPHP3):c.3619C>T:p.Arg1207Ter	coding	Pathogenic
3	132684545	C	A	C132684545A	NPHP3	NM_153240.5(NPHP3):c.3570+9G>T	noncoding	Benign/Likely_benign
3	132684552	A	T	A132684552T	NPHP3	NM_153240.5(NPHP3):c.3570+2T>A	noncoding	Pathogenic
3	132684751	G	A	G132684751A	NPHP3	NM_153240.5(NPHP3):c.3373C>T:p.Arg1125Ter	coding	Pathogenic
3	132684784	G	A	G132684784A	NPHP3	NM_153240.5(NPHP3):c.3340C>T:p.Gln1114Ter	coding	Pathogenic
3	132686280	G	C	G132686280C	NPHP3	NM_153240.5(NPHP3):c.3309C>G:p.Tyr1103Ter	coding	Pathogenic
3	132687163	T	C	T132687163C	NPHP3	NM_153240.5(NPHP3):c.3189A>G:p.Lys1063=	coding	Benign/Likely_benign
3	132687223	A	T	A132687223T	NPHP3	NM_153240.5(NPHP3):c.3129T>A:p.Tyr1043Ter	coding	Pathogenic
3	132687234	A	C	A132687234C	NPHP3	NM_153240.5(NPHP3):c.3126-8T>G	noncoding	Benign
3	132688664	G	C	G132688664C	NPHP3	NM_153240.5(NPHP3):c.3111C>G:p.Tyr1037Ter	coding	Pathogenic
3	132688682	T	C	T132688682C	NPHP3	NM_153240.5(NPHP3):c.3093A>G:p.Glu1031=	coding	Benign/Likely_benign
3	132688781	C	T	C132688781T	NPHP3	NM_153240.5(NPHP3):c.2994G>A:p.Trp998Ter	coding	Pathogenic
3	132688857	C	T	C132688857T	NPHP3	NM_153240.5(NPHP3):c.2918G>A:p.Arg973Gln	coding	Pathogenic
3	132689061	C	G	C132689061G	NPHP3	NM_153240.5(NPHP3):c.2883+13G>C	noncoding	Benign/Likely_benign
3	132689106	G	A	G132689106A	NPHP3	NM_153240.5(NPHP3):c.2851C>T:p.Arg951Ter	coding	Pathogenic
3	132690611	C	T	C132690611T	NPHP3	NM_153240.5(NPHP3):c.2610G>A:p.Pro870=	coding	Benign
3	132690657	A	G	A132690657G	NPHP3	NM_153240.5(NPHP3):c.2571-7T>C	noncoding	Benign/Likely_benign
3	132690753	C	A	C132690753A	NPHP3	NM_153240.5(NPHP3):c.2571-103G>T	noncoding	Benign
3	132691199	G	A	G132691199A	NPHP3	NM_153240.5(NPHP3):c.2563C>T:p.Gln855Ter	coding	Pathogenic
3	132691358	A	G	A132691358G	NPHP3	NM_153240.5(NPHP3):c.2476-72T>C	noncoding	Benign
3	132691370	T	C	T132691370C	NPHP3	NM_153240.5(NPHP3):c.2476-84A>G	noncoding	Benign
3	132692820	T	C	T132692820C	NPHP3	NM_153240.5(NPHP3):c.2311-2A>G	noncoding	Pathogenic
3	132695097	A	C	A132695097C	NPHP3	NM_153240.5(NPHP3):c.2172-132T>G	noncoding	Benign
3	132695152	T	C	T132695152C	NPHP3	NM_153240.5(NPHP3):c.2172-187A>G	noncoding	Benign
3	132696580	T	C	T132696580C	NPHP3	NM_153240.5(NPHP3):c.2171+151A>G	noncoding	Benign
3	132696798	G	A	G132696798A	NPHP3	NM_153240.5(NPHP3):c.2104C>T:p.Arg702Ter	coding	Pathogenic
3	132697362	C	T	C132697362T	NPHP3	NM_153240.5(NPHP3):c.1986G>A:p.Arg662=	coding	Benign/Likely_benign
3	132699352	C	T	C132699352T	NPHP3	NM_153240.5(NPHP3):c.1985+1G>A	noncoding	Pathogenic
3	132699452	T	C	T132699452C	NPHP3	NM_153240.5(NPHP3):c.1888-2A>G	noncoding	Pathogenic
3	132699988	C	T	C132699988T	NPHP3	NM_153240.5(NPHP3):c.1817G>A:p.Trp606Ter	coding	Pathogenic/Likely_pathogenic
3	132700348	G	A	G132700348A	NPHP3	NM_153240.5(NPHP3):c.1729C>T:p.Arg577Ter	coding	Pathogenic
3	132704341	C	A	C132704341A	NPHP3	NM_153240.5(NPHP3):c.1381G>T:p.Glu461Ter	coding	Pathogenic
3	132705936	A	G	A132705936G	NPHP3	NM_153240.5(NPHP3):c.1276-122T>C	noncoding	Benign
3	132708202	G	A	G132708202A	NPHP3	NM_153240.5(NPHP3):c.1174C>T:p.Arg392Ter	coding	Pathogenic
3	132713165	C	G	C132713165G	NPHP3	NM_153240.5(NPHP3):c.1079G>C:p.Ser360Thr	coding	Pathogenic
3	132713288	T	C	T132713288C	NPHP3	NM_153240.5(NPHP3):c.958-2A>G	noncoding	Pathogenic
3	132715178	A	T	A132715178T	NPHP3	NM_153240.5(NPHP3):c.864T>A:p.Thr288=	coding	Benign/Likely_benign
3	132715307	T	C	T132715307C	NPHP3	NM_153240.5(NPHP3):c.824-89A>G	noncoding	Benign
3	132715312	T	C	T132715312C	NPHP3	NM_153240.5(NPHP3):c.824-94A>G	noncoding	Benign
3	132719145	C	A	C132719145A	NPHP3	NM_153240.5(NPHP3):c.520-1G>T	coding	Pathogenic
3	132719774	C	T	C132719774T	NPHP3	NM_153240.5(NPHP3):c.450G>A:p.Ala150=	coding	Benign/Likely_benign
3	132719775	G	A	G132719775A	NPHP3	NM_153240.5(NPHP3):c.449C>T:p.Ala150Val	coding	Benign/Likely_benign
3	132719800	G	A	G132719800A	NPHP3	NM_153240.5(NPHP3):c.424C>T:p.Arg142Ter	coding	Pathogenic
3	132719875	T	C	T132719875C	NPHP3	NM_153240.5(NPHP3):c.394-45A>G	noncoding	Benign
3	132722296	G	C	G132722296C	NPHP3	NM_153240.5(NPHP3):c.60C>G:p.Tyr20Ter	coding	Pathogenic
3	132722299	C	G	C132722299G	NPHP3	NM_153240.5(NPHP3):c.57G>C:p.Thr19=	coding	Benign/Likely_benign
3	132722354	A	G	A132722354G	NPHP3	NM_153240.5(NPHP3):c.2T>C:p.Met1Thr	coding	Pathogenic
3	132722424	T	C	T132722424C	NPHP3	NM_153240.4(NPHP3):c.-69A>G	noncoding	Benign
3	133380152	G	A	G133380152A	TMEM108	NM_023943.4(TMEM108):c.441G>A:p.Pro147=	coding	Benign
3	133380452	A	G	A133380452G	TMEM108	NM_023943.4(TMEM108):c.741A>G:p.Ser247=	coding	Benign
3	133400158	G	A	G133400158A	BFSP2	NM_003571.4(BFSP2):c.75G>A:p.Ala25=	coding	Benign
3	133400183	T	C	T133400183C	BFSP2	NM_003571.4(BFSP2):c.100T>C:p.Ser34Pro	coding	Benign
3	133400245	C	T	C133400245T	BFSP2	NM_003571.4(BFSP2):c.162C>T:p.Pro54=	coding	Benign
3	133400329	T	C	T133400329C	BFSP2	NM_003571.4(BFSP2):c.246T>C:p.Ser82=	coding	Benign
3	133400368	C	T	C133400368T	BFSP2	NM_003571.4(BFSP2):c.285C>T:p.Thr95=	coding	Benign
3	133400449	G	A	G133400449A	BFSP2	NM_003571.4(BFSP2):c.366G>A:p.Val122=	coding	Benign
3	133400452	C	T	C133400452T	BFSP2	NM_003571.4(BFSP2):c.369C>T:p.His123=	coding	Benign
3	133400453	G	A	G133400453A	BFSP2	NM_003571.4(BFSP2):c.370G>A:p.Ala124Thr	coding	Benign
3	133400462	C	G	C133400462G	BFSP2	NM_003571.4(BFSP2):c.379C>G:p.Gln127Glu	coding	Benign/Likely_benign
3	133400493	G	A	G133400493A	BFSP2	NM_003571.4(BFSP2):c.410G>A:p.Arg137Gln	coding	Benign
3	133400519	C	T	C133400519T	BFSP2	NM_003571.4(BFSP2):c.436C>T:p.Arg146Cys	coding	Benign
3	133448583	C	G	C133448583G	BFSP2	NM_003571.4(BFSP2):c.667C>G:p.Leu223Val	coding	Benign
3	133448636	C	T	C133448636T	BFSP2	NM_003571.4(BFSP2):c.720C>T:p.Asn240=	coding	Benign
3	133450296	T	C	T133450296C	BFSP2	NM_003571.4(BFSP2):c.730-7T>C	noncoding	Benign/Likely_benign
3	133450432	C	T	C133450432T	BFSP2	NM_003571.4(BFSP2):c.859C>T:p.Arg287Trp	coding	Pathogenic
3	133450438	G	A	G133450438A	BFSP2	NM_003571.4(BFSP2):c.865G>A:p.Glu289Lys	coding	Benign
3	133472457	C	A	C133472457A	BFSP2	NM_003571.4(BFSP2):c.1136C>A:p.Ala379Glu	coding	Benign
3	133472541	C	A	C133472541A	BFSP2	NM_003571.4(BFSP2):c.1220C>A:p.Ala407Asp	coding	Benign
3	133475045	C	T	C133475045T	BFSP2	NM_003571.4(BFSP2):c.*73C>T	noncoding	Benign
3	133637946	G	A	G133637946A	TOPBP1	NM_007027.4(TOPBP1):c.2450C>T:p.Ser817Leu	coding	Benign
3	133746357	G	T	G133746357T	TF	NM_001354703.2(TF):c.-89-2055G>T	noncoding	Benign
3	133746439	A	G	A133746439G	TF	NM_001063.4(TF):c.-2A>G	noncoding	Benign
3	133748493	G	T	G133748493T	TF	NM_001063.4(TF):c.125G>T:p.Arg42Leu	coding	Benign
3	133748598	G	C	G133748598C	TF	NM_001063.4(TF):c.216+14G>C	noncoding	Benign
3	133753607	G	A	G133753607A	TF	NM_001063.4(TF):c.229G>A:p.Asp77Asn	coding	Pathogenic
3	133754502	G	A	G133754502A	TF	NM_001063.4(TF):c.333G>A:p.Gln111=	coding	Benign/Likely_benign
3	133754586	G	A	G133754586A	TF	NM_001063.4(TF):c.417G>A:p.Thr139=	coding	Benign
3	133754601	C	T	C133754601T	TF	NM_001063.4(TF):c.432C>T:p.Ser144=	coding	Benign
3	133755442	A	G	A133755442G	TF	NM_001063.4(TF):c.582A>G:p.Pro194=	coding	Benign
3	133755484	G	A	G133755484A	TF	NM_001063.4(TF):c.624G>A:p.Ser208=	coding	Benign
3	133755508	T	A	T133755508A	TF	NM_001063.4(TF):c.635+13T>A	noncoding	Benign
3	133756878	C	T	C133756878T	TF	NM_001063.4(TF):c.739C>T:p.Leu247=	coding	Benign
3	133756943	T	C	T133756943C	TF	NM_001063.4(TF):c.804T>C:p.His268=	coding	Benign
3	133756968	G	A	G133756968A	TF	NM_001063.4(TF):c.829G>A:p.Gly277Ser	coding	Benign
3	133756969	G	A	G133756969A	TF	NM_001063.4(TF):c.830G>A:p.Gly277Asp	coding	Pathogenic
3	133757785	A	G	A133757785G	TF	NM_001063.4(TF):c.887A>G:p.Asp296Gly	coding	Benign/Likely_benign
3	133757854	A	G	A133757854G	TF	NM_001063.4(TF):c.956A>G:p.His319Arg	coding	Benign
3	133757891	G	A	G133757891A	TF	NM_001063.4(TF):c.993G>A:p.Lys331=	coding	Benign/Likely_benign
3	133759306	G	A	G133759306A	TF	NM_001063.4(TF):c.1180G>A:p.Glu394Lys	coding	Pathogenic
3	133764879	C	T	C133764879T	TF	NM_001063.4(TF):c.1302C>T:p.Ser434=	coding	Benign/Likely_benign
3	133766376	G	C	G133766376C	TF	NM_001063.4(TF):c.1429G>C:p.Ala477Pro	coding	Pathogenic
3	133768114	G	C	G133768114C	TF	NM_001063.4(TF):c.1572G>C:p.Leu524=	coding	Benign
3	133768144	C	T	C133768144T	TF	NM_001063.4(TF):c.1602C>T:p.Tyr534=	coding	Benign/Likely_benign
3	133768156	C	T	C133768156T	TF	NM_001063.4(TF):c.1614C>T:p.Gly538=	coding	Benign
3	133775429	C	A	C133775429A	TF	NM_001063.4(TF):c.1688-4C>A	noncoding	Benign/Likely_benign
3	133775510	C	T	C133775510T	TF	NM_001063.4(TF):c.1765C>T:p.Pro589Ser	coding	Benign
3	133777112	A	G	A133777112G	TF	NM_001063.4(TF):c.1936A>G:p.Lys646Glu	coding	Pathogenic
3	133807811	C	T	C133807811T	SRPRB	NM_021203.4(SRPRB):c.315C>T:p.Val105=	coding	Benign
3	133839583	G	A	G133839583A	RAB6B	NM_016577.4(RAB6B):c.324C>T:p.Ile108=	coding	Benign
3	133934722	G	A	G133934722A	SLCO2A1	NM_005630.3(SLCO2A1):c.1923C>T:p.Gly641=	coding	Benign
3	133934740	G	A	G133934740A	SLCO2A1	NM_005630.3(SLCO2A1):c.1905C>T:p.Asn635=	coding	Benign
3	133935781	G	A	G133935781A	SLCO2A1	NM_005630.3(SLCO2A1):c.1807C>T:p.Arg603Ter	coding	Pathogenic
3	133935791	G	A	G133935791A	SLCO2A1	NM_005630.3(SLCO2A1):c.1797C>T:p.Asn599=	coding	Benign
3	133935833	C	T	C133935833T	SLCO2A1	NM_005630.3(SLCO2A1):c.1755G>A:p.Ser585=	coding	Benign
3	133945223	G	A	G133945223A	SLCO2A1	NM_005630.3(SLCO2A1):c.1333C>T:p.Arg445Cys	coding	Benign
3	133947263	G	A	G133947263A	SLCO2A1	NM_005630.3(SLCO2A1):c.1288C>T:p.Pro430Ser	coding	Benign
3	133947292	C	A	C133947292A	SLCO2A1	NM_005630.3(SLCO2A1):c.1259G>T:p.Cys420Phe	coding	Pathogenic
3	133947308	A	G	A133947308G	SLCO2A1	NM_005630.3(SLCO2A1):c.1243T>C:p.Leu415=	coding	Benign
3	133947385	C	T	C133947385T	SLCO2A1	NM_005630.3(SLCO2A1):c.1166G>A:p.Arg389His	coding	Benign
3	133948621	G	A	G133948621A	SLCO2A1	NM_005630.3(SLCO2A1):c.1020C>T:p.Ser340=	coding	Benign
3	133948892	C	T	C133948892T	SLCO2A1	NM_005630.3(SLCO2A1):c.940+1G>A	noncoding	Pathogenic
3	133951305	C	T	C133951305T	SLCO2A1	NM_005630.3(SLCO2A1):c.764G>A:p.Gly255Glu	coding	Pathogenic
3	133953715	C	T	C133953715T	SLCO2A1	NM_005630.3(SLCO2A1):c.672G>A:p.Leu224=	coding	Benign
3	133953723	C	T	C133953723T	SLCO2A1	NM_005630.3(SLCO2A1):c.664G>A:p.Gly222Arg	coding	Pathogenic
3	133953730	C	T	C133953730T	SLCO2A1	NM_005630.3(SLCO2A1):c.657G>A:p.Pro219=	coding	Benign
3	133954973	C	A	C133954973A	SLCO2A1	NM_005630.3(SLCO2A1):c.618G>T:p.Leu206=	coding	Benign
3	133955096	C	A	C133955096A	SLCO2A1	NM_005630.3(SLCO2A1):c.495G>T:p.Glu165Asp	coding	Benign
3	133973750	C	A	C133973750A	SLCO2A1	NM_005630.3(SLCO2A1):c.310G>T:p.Gly104Ter	coding	Pathogenic
3	133973790	G	C	G133973790C	SLCO2A1	NM_005630.3(SLCO2A1):c.270C>G:p.Tyr90Ter	coding	Pathogenic
3	133973807	T	A	T133973807A	SLCO2A1	NM_005630.3(SLCO2A1):c.253A>T:p.Ile85Phe	coding	Pathogenic
3	133979619	C	T	C133979619T	SLCO2A1	NM_005630.3(SLCO2A1):c.97-1G>A	coding	Pathogenic
3	134029726	G	A	G134029726A	SLCO2A1	NM_005630.3(SLCO2A1):c.77C>T:p.Ser26Leu	coding	Benign
3	134175954	T	C	T134175954C	RYK	NM_001005861.2(RYK):c.1400A>G:p.Lys467Arg	coding	Benign
3	134222543	G	C	G134222543C	RYK	NM_001005861.2(RYK):c.233-4C>G	noncoding	Benign
3	134250504	G	A	G134250504A	RYK	NM_001005861.2(RYK):c.151C>T:p.Arg51Trp	coding	Benign
3	134361528	G	A	G134361528A	AMOTL2	NM_001278683.1(AMOTL2):c.1733C>T:p.Ala578Val	coding	Benign
3	134361725	A	G	A134361725G	AMOTL2	NM_016201.4(AMOTL2):c.1362T>C:p.Arg454=	coding	Benign
3	134370916	C	T	C134370916T	AMOTL2	NM_016201.4(AMOTL2):c.518G>A:p.Arg173Gln	coding	Benign
3	134507127	T	C	T134507127C	CEP63	NM_001042384.2(CEP63):c.63T>C:p.Cys21=	coding	Benign
3	134507193	G	A	G134507193A	CEP63	NM_001042384.2(CEP63):c.129G>A:p.Trp43Ter	coding	Pathogenic
3	134537268	G	C	G134537268C	CEP63	NM_001042384.2(CEP63):c.555G>C:p.Gln185His	coding	Benign
3	134545597	C	A	C134545597A	CEP63	NM_001042384.2(CEP63):c.567C>A:p.Val189=	coding	Benign
3	134547479	A	G	A134547479G	CEP63	NM_001042384.2(CEP63):c.929+1191A>G	noncoding	Benign
3	134549149	C	A	C134549149A	CEP63	NM_001042384.2(CEP63):c.1017C>A:p.Asn339Lys	coding	Benign
3	134550059	A	G	A134550059G	CEP63	NM_001042384.2(CEP63):c.1045-4A>G	noncoding	Benign
3	134550146	G	A	G134550146A	CEP63	NM_001042384.2(CEP63):c.1128G>A:p.Gln376=	coding	Benign
3	134558270	G	A	G134558270A	CEP63	NM_001042384.2(CEP63):c.1329+6258G>A	coding	Benign
3	134558294	G	A	G134558294A	CEP63	NM_001042384.2(CEP63):c.1329+6282G>A	coding	Benign/Likely_benign
3	134559428	C	T	C134559428T	CEP63	NM_001042384.2(CEP63):c.1329+7416C>T	coding	Benign
3	134603788	G	A	G134603788A	KY	NM_178554.6(KY):c.1777C>T:p.Arg593Trp	coding	Benign
3	134603969	C	T	C134603969T	KY	NM_178554.6(KY):c.1596G>A:p.Lys532=	coding	Benign
3	134604002	G	A	G134604002A	KY	NM_178554.6(KY):c.1563C>T:p.Thr521=	coding	Benign
3	134604074	G	A	G134604074A	KY	NM_178554.6(KY):c.1491C>T:p.His497=	coding	Benign
3	134625131	G	T	G134625131T	KY	NM_178554.6(KY):c.405C>A:p.Tyr135Ter	coding	Pathogenic
3	135166038	C	T	C135166038T	EPHB1	NM_004441.5(EPHB1):c.1656C>T:p.Phe552=	coding	Benign
3	135166065	C	T	C135166065T	EPHB1	NM_004441.5(EPHB1):c.1683C>T:p.Ile561=	coding	Benign
3	135259108	G	A	G135259108A	EPHB1	NM_004441.5(EPHB1):c.2943G>A:p.Thr981=	coding	Benign
3	136078364	C	T	C136078364T	PPP2R3A	NM_002718.5(PPP2R3A):c.2545-3C>T	noncoding	Benign
3	136249986	G	C	G136249986C	PCCB	NC_000003.12:g.136249986G>C	noncoding	Benign
3	136250339	C	T	C136250339T	PCCB	NM_001178014.1(PCCB):c.-37C>T	noncoding	Benign/Likely_benign
3	136250377	T	A	T136250377A	PCCB	NM_000532.5(PCCB):c.2T>A:p.Met1Lys	coding	Pathogenic
3	136250378	G	A	G136250378A	PCCB	NM_000532.5(PCCB):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
3	136250513	G	C	G136250513C	PCCB	NM_000532.5(PCCB):c.138G>C:p.Ala46=	coding	Benign
3	136250559	G	A	G136250559A	PCCB	NM_000532.5(PCCB):c.183+1G>A	coding	Pathogenic
3	136255844	G	T	G136255844T	PCCB	NM_000532.5(PCCB):c.184-12G>T	noncoding	Benign/Likely_benign
3	136255855	G	A	G136255855A	PCCB	NM_000532.5(PCCB):c.184-1G>A	noncoding	Pathogenic/Likely_pathogenic
3	136255952	G	T	G136255952T	PCCB	NM_000532.5(PCCB):c.280G>T:p.Gly94Ter	coding	Pathogenic
3	136256582	C	T	C136256582T	PCCB	NM_000532.5(PCCB):c.331C>T:p.Arg111Ter	coding	Pathogenic/Likely_pathogenic
3	136256586	G	A	G136256586A	PCCB	NM_000532.5(PCCB):c.335G>A:p.Gly112Asp	coding	Pathogenic
3	136256588	C	T	C136256588T	PCCB	NM_000532.5(PCCB):c.337C>T:p.Arg113Ter	coding	Pathogenic
3	136256625	T	C	T136256625C	PCCB	NM_000532.5(PCCB):c.372+2T>C	noncoding	Pathogenic/Likely_pathogenic
3	136256654	T	C	T136256654C	PCCB	NM_000532.5(PCCB):c.372+31T>C	noncoding	Benign
3	136261979	G	C	G136261979C	PCCB	NM_000532.5(PCCB):c.457G>C:p.Ala153Pro	coding	Pathogenic
3	136262015	C	T	C136262015T	PCCB	NM_000532.5(PCCB):c.493C>T:p.Arg165Trp	coding	Pathogenic/Likely_pathogenic
3	136262016	G	A	G136262016A	PCCB	NM_000532.5(PCCB):c.494G>A:p.Arg165Gln	coding	Pathogenic/Likely_pathogenic
3	136262024	G	A	G136262024A	PCCB	NM_000532.5(PCCB):c.502G>A:p.Glu168Lys	coding	Pathogenic/Likely_pathogenic
3	136262027	G	T	G136262027T	PCCB	NM_000532.5(PCCB):c.505G>T:p.Gly169Ter	coding	Pathogenic
3	136283839	G	A	G136283839A	PCCB	NM_000532.5(PCCB):c.546G>A:p.Arg182=	coding	Benign/Likely_benign
3	136283855	G	A	G136283855A	PCCB	NM_000532.5(PCCB):c.562G>A:p.Gly188Arg	coding	Pathogenic/Likely_pathogenic
3	136283967	T	C	T136283967C	PCCB	NM_000532.5(PCCB):c.654+20T>C	noncoding	Benign
3	136284409	A	G	A136284409G	PCCB	NM_000532.5(PCCB):c.654+462A>G	noncoding	Pathogenic
3	136293784	C	T	C136293784T	PCCB	NM_000532.5(PCCB):c.683C>T:p.Pro228Leu	coding	Pathogenic
3	136297636	A	G	A136297636G	PCCB	NM_000532.5(PCCB):c.764-316A>G	noncoding	Benign
3	136298050	G	A	G136298050A	PCCB	NM_000532.5(PCCB):c.862G>A:p.Val288Ile	coding	Benign
3	136301087	C	A	C136301087A	PCCB	NM_000532.5(PCCB):c.942C>A:p.Tyr314Ter	coding	Pathogenic/Likely_pathogenic
3	136301112	G	T	G136301112T	PCCB	NM_000532.5(PCCB):c.966+1G>T	coding	Pathogenic
3	136316895	A	G	A136316895G	PCCB	NM_000532.5(PCCB):c.967-46A>G	noncoding	Benign
3	136316899	G	C	G136316899C	PCCB	NM_000532.5(PCCB):c.967-42G>C	noncoding	Benign
3	136317384	A	G	A136317384G	PCCB	NM_000532.5(PCCB):c.1090+320A>G	noncoding	Benign
3	136327163	C	T	C136327163T	PCCB	NM_000532.5(PCCB):c.1207C>T:p.Gln403Ter	coding	Pathogenic
3	136327166	G	A	G136327166A	PCCB	NM_000532.5(PCCB):c.1210G>A:p.Glu404Lys	coding	Pathogenic
3	136327184	C	T	C136327184T	PCCB	NM_000532.5(PCCB):c.1228C>T:p.Arg410Trp	coding	Pathogenic/Likely_pathogenic
3	136327239	C	T	C136327239T	PCCB	NM_000532.5(PCCB):c.1283C>T:p.Thr428Ile	coding	Pathogenic
3	136327264	C	A	C136327264A	PCCB	NM_000532.5(PCCB):c.1299+9C>A	noncoding	Benign/Likely_benign
3	136327635	C	T	C136327635T	PCCB	NM_000532.5(PCCB):c.1301C>T:p.Ala434Val	coding	Pathogenic/Likely_pathogenic
3	136327638	A	G	A136327638G	PCCB	NM_000532.5(PCCB):c.1304A>G:p.Tyr435Cys	coding	Pathogenic/Likely_pathogenic
3	136327650	A	G	A136327650G	PCCB	NM_000532.5(PCCB):c.1316A>G:p.Tyr439Cys	coding	Pathogenic/Likely_pathogenic
3	136327733	G	T	G136327733T	PCCB	NM_000532.5(PCCB):c.1398+1G>T	coding	Pathogenic/Likely_pathogenic
3	136328849	C	T	C136328849T	PCCB	NM_000532.5(PCCB):c.1490C>T:p.Ala497Val	coding	Benign/Likely_benign
3	136328854	C	T	C136328854T	PCCB	NM_000532.5(PCCB):c.1495C>T:p.Arg499Ter	coding	Pathogenic
3	136328859	T	C	T136328859C	PCCB	NM_000532.5(PCCB):c.1498+2T>C	noncoding	Pathogenic
3	136329135	A	G	A136329135G	PCCB	NM_000532.5(PCCB):c.1498+278A>G	noncoding	Benign
3	136329857	A	G	A136329857G	PCCB	NM_000532.5(PCCB):c.1499-48A>G	noncoding	Benign
3	136329904	G	C	G136329904C	PCCB	NM_000532.5(PCCB):c.1499-1G>C	noncoding	Pathogenic
3	136329940	C	T	C136329940T	PCCB	NM_000532.5(PCCB):c.1534C>T:p.Arg512Cys	coding	Pathogenic
3	136329946	C	T	C136329946T	PCCB	NM_000532.5(PCCB):c.1540C>T:p.Arg514Ter	coding	Pathogenic/Likely_pathogenic
3	136329962	T	C	T136329962C	PCCB	NM_000532.5(PCCB):c.1556T>C:p.Leu519Pro	coding	Pathogenic
3	136330012	A	G	A136330012G	PCCB	NM_000532.5(PCCB):c.1606A>G:p.Asn536Asp	coding	Pathogenic
3	136398785	C	T	C136398785T	STAG1	NM_005862.3(STAG1):c.2241G>A:p.Trp747Ter	coding	Pathogenic
3	136443400	T	G	T136443400G	STAG1	NM_005862.3(STAG1):c.1433A>C:p.His478Pro	coding	Pathogenic/Likely_pathogenic
3	136500243	A	G	A136500243G	STAG1	NM_005862.3(STAG1):c.882T>C:p.Gly294=	coding	Benign
3	136521243	T	C	T136521243C	STAG1	NM_005862.3(STAG1):c.646A>G:p.Arg216Gly	coding	Pathogenic/Likely_pathogenic
3	136946128	G	C	G136946128C	NCK1	NM_001291999.2(NCK1):c.772G>C:p.Gly258Arg	coding	Benign
3	136989562	C	G	C136989562G	IL20RB	NM_144717.4(IL20RB):c.528C>G:p.Ala176=	coding	Benign
3	138062836	G	A	G138062836A	DZIP1L	NM_173543.3(DZIP1L):c.2284C>T:p.Pro762Ser	coding	Benign
3	138062887	G	A	G138062887A	DZIP1L	NM_173543.3(DZIP1L):c.2233C>T:p.Arg745Cys	coding	Benign
3	138068143	G	T	G138068143T	DZIP1L	NM_173543.3(DZIP1L):c.1832+8C>A	noncoding	Benign
3	138068213	G	T	G138068213T	DZIP1L	NM_173543.3(DZIP1L):c.1770C>A:p.Pro590=	coding	Benign
3	138077520	G	A	G138077520A	DZIP1L	NM_173543.3(DZIP1L):c.1401C>T:p.Leu467=	coding	Benign
3	138088495	G	A	G138088495A	DZIP1L	NM_173543.3(DZIP1L):c.883C>T:p.Leu295=	coding	Benign
3	138103509	G	A	G138103509A	DZIP1L	NM_173543.3(DZIP1L):c.463C>T:p.Gln155Ter	coding	Pathogenic
3	138103699	C	G	C138103699G	DZIP1L	NM_173543.3(DZIP1L):c.273G>C:p.Gln91His	coding	Pathogenic
3	138103703	G	A	G138103703A	DZIP1L	NM_173543.3(DZIP1L):c.269C>T:p.Ala90Val	coding	Pathogenic
3	138162030	C	T	C138162030T	DBR1	NM_016216.4(DBR1):c.1494G>A:p.Glu498=	coding	Benign
3	138171689	C	T	C138171689T	DBR1	NM_016216.4(DBR1):c.347G>A:p.Arg116Gln	coding	Benign
3	138174667	C	T	C138174667T	DBR1	NM_016216.4(DBR1):c.129G>A:p.Val43=	coding	Benign
3	138314339	C	T	C138314339T	NME9	NM_001349018.2(NME9):c.453G>A:p.Glu151=	coding	Benign
3	138372951	G	T	G138372951T	MRAS	NM_001085049.3(MRAS):c.68G>T:p.Gly23Val	coding	Pathogenic
3	138373060	A	G	A138373060G	MRAS	NM_001085049.3(MRAS):c.177A>G:p.Gln59=	coding	Benign
3	138397342	A	G	A138397342G	MRAS	NM_001085049.3(MRAS):c.212A>G:p.Gln71Arg	coding	Pathogenic
3	138397382	G	A	G138397382A	MRAS	NM_001085049.3(MRAS):c.252G>A:p.Thr84=	coding	Benign
3	138397421	G	A	G138397421A	MRAS	NM_001085049.3(MRAS):c.291G>A:p.Lys97=	coding	Benign
3	138397436	C	T	C138397436T	MRAS	NM_001085049.3(MRAS):c.306C>T:p.His102=	coding	Benign
3	138400539	G	A	G138400539A	MRAS	NM_001085049.3(MRAS):c.453G>A:p.Pro151=	coding	Benign
3	138655397	T	G	T138655397G	PIK3CB	NM_006219.3(PIK3CB):c.3205A>C:p.Arg1069=	coding	Benign
3	138682038	T	C	T138682038C	PIK3CB	NM_006219.3(PIK3CB):c.2433A>G:p.Arg811=	coding	Benign
3	138691104	T	C	T138691104C	PIK3CB	NM_006219.3(PIK3CB):c.1932A>G:p.Gln644=	coding	Benign
3	138694824	G	A	G138694824A	PIK3CB	NM_006219.3(PIK3CB):c.1854C>T:p.Tyr618=	coding	Benign
3	138707258	T	C	T138707258C	PIK3CB	NM_006219.3(PIK3CB):c.1431A>G:p.Gly477=	coding	Benign
3	138714458	A	G	A138714458G	PIK3CB	NM_006219.3(PIK3CB):c.1302+10T>C	noncoding	Benign
3	138714459	T	C	T138714459C	PIK3CB	NM_006219.3(PIK3CB):c.1302+9A>G	noncoding	Benign
3	138945901	G	C	G138945901C	FOXL2	NM_023067.4(FOXL2):c.822C>G:p.Tyr274Ter	coding	Pathogenic
3	138945905	G	T	G138945905T	FOXL2	NM_023067.4(FOXL2):c.818C>A:p.Ser273Ter	coding	Pathogenic
3	138945939	G	A	G138945939A	FOXL2	NM_023067.4(FOXL2):c.784C>T:p.Gln262Ter	coding	Pathogenic
3	138946068	G	A	G138946068A	FOXL2	NM_023067.4(FOXL2):c.655C>T:p.Gln219Ter	coding	Pathogenic
3	138946073	G	A	G138946073A	FOXL2	NM_023067.4(FOXL2):c.650C>T:p.Ser217Phe	coding	Pathogenic
3	138946079	T	C	T138946079C	FOXL2	NM_023067.4(FOXL2):c.644A>G:p.Tyr215Cys	coding	Pathogenic
3	138946091	G	T	G138946091T	FOXL2	NM_023067.4(FOXL2):c.632C>A:p.Ser211Ter	coding	Pathogenic
3	138946111	C	T	C138946111T	FOXL2	NM_023067.4(FOXL2):c.612G>A:p.Trp204Ter	coding	Pathogenic
3	138946137	G	A	G138946137A	FOXL2	NM_023067.4(FOXL2):c.586C>T:p.Gln196Ter	coding	Pathogenic
3	138946141	G	C	G138946141C	FOXL2	NM_023067.4(FOXL2):c.582C>G:p.Tyr194Ter	coding	Pathogenic
3	138946187	G	C	G138946187C	FOXL2	NM_023067.4(FOXL2):c.536C>G:p.Ala179Gly	coding	Benign
3	138946222	G	A	G138946222A	FOXL2	NM_023067.4(FOXL2):c.501C>T:p.Phe167=	coding	Benign
3	138946233	T	A	T138946233A	FOXL2	NM_023067.4(FOXL2):c.490A>T:p.Lys164Ter	coding	Pathogenic
3	138946339	C	T	C138946339T	FOXL2	NM_023067.4(FOXL2):c.384G>A:p.Trp128Ter	coding	Pathogenic
3	138946428	G	A	G138946428A	FOXL2	NM_023067.4(FOXL2):c.295C>T:p.Gln99Ter	coding	Pathogenic
3	138946430	C	T	C138946430T	FOXL2	NM_023067.4(FOXL2):c.293G>A:p.Trp98Ter	coding	Pathogenic
3	138946472	A	C	A138946472C	FOXL2	NM_023067.4(FOXL2):c.251T>G:p.Ile84Ser	coding	Pathogenic
3	138946518	C	A	C138946518A	FOXL2	NM_023067.4(FOXL2):c.205G>T:p.Glu69Ter	coding	Pathogenic
3	138946518	C	T	C138946518T	FOXL2	NM_023067.4(FOXL2):c.205G>A:p.Glu69Lys	coding	Pathogenic
3	138946550	G	T	G138946550T	FOXL2	NM_023067.4(FOXL2):c.173C>A:p.Ser58Ter	coding	Pathogenic
3	138946552	G	C	G138946552C	FOXL2	NM_023067.4(FOXL2):c.171C>G:p.Tyr57Ter	coding	Pathogenic
3	138946563	T	C	T138946563C	FOXL2	NM_023067.4(FOXL2):c.160A>G:p.Lys54Glu	coding	Pathogenic
3	138946566	G	A	G138946566A	FOXL2	NM_023067.4(FOXL2):c.157C>T:p.Gln53Ter	coding	Pathogenic
3	138946668	C	A	C138946668A	FOXL2	NM_023067.4(FOXL2):c.55G>T:p.Glu19Ter	coding	Pathogenic
3	138946708	G	T	G138946708T	FOXL2	NM_023067.4(FOXL2):c.15C>A:p.Tyr5Ter	coding	Pathogenic
3	138946973	C	T	C138946973T	FOXL2	NM_023067.4(FOXL2):c.-251G>A	noncoding	Benign
3	139344053	G	C	G139344053C	MRPS22	NM_020191.4(MRPS22):c.27G>C:p.Leu9Phe	coding	Benign
3	139344277	G	A	G139344277A	MRPS22	NM_020191.3(MRPS22):c.172+79G>A	noncoding	Benign
3	139346587	G	A	G139346587A	MRPS22	NM_020191.3(MRPS22):c.173-291G>A	noncoding	Benign
3	139346906	A	G	A139346906G	MRPS22	NM_020191.3(MRPS22):c.201A>G:p.Lys67=	coding	Benign/Likely_benign
3	139346988	A	C	A139346988C	MRPS22	NM_020191.3(MRPS22):c.283A>C:p.Ile95Leu	coding	Benign
3	139347026	T	C	T139347026C	MRPS22	NM_020191.3(MRPS22):c.321T>C:p.Thr107=	coding	Benign/Likely_benign
3	139348309	T	G	T139348309G	MRPS22	NM_020191.3(MRPS22):c.489T>G:p.Tyr163Ter	coding	Pathogenic
3	139348416	C	T	C139348416T	MRPS22	NM_020191.3(MRPS22):c.504+92C>T	noncoding	Benign
3	139348541	A	G	A139348541G	MRPS22	NM_020191.3(MRPS22):c.504+217A>G	noncoding	Benign
3	139350183	G	A	G139350183A	MRPS22	NM_020191.3(MRPS22):c.509G>A:p.Arg170His	coding	Pathogenic
3	139350279	G	A	G139350279A	MRPS22	NM_020191.3(MRPS22):c.605G>A:p.Arg202His	coding	Pathogenic
3	139350318	T	C	T139350318C	MRPS22	NM_020191.3(MRPS22):c.644T>C:p.Leu215Pro	coding	Pathogenic
3	139350727	T	C	T139350727C	MRPS22	NM_020191.3(MRPS22):c.649-250T>C	noncoding	Benign
3	139350851	C	A	C139350851A	MRPS22	NM_020191.3(MRPS22):c.649-126C>A	noncoding	Benign
3	139351270	A	G	A139351270G	MRPS22	NM_020191.3(MRPS22):c.732+210A>G	noncoding	Benign
3	139352385	C	G	C139352385G	MRPS22	NM_020191.3(MRPS22):c.733-262C>G	noncoding	Benign
3	139352655	C	G	C139352655G	MRPS22	NM_020191.3(MRPS22):c.741C>G:p.His247Gln	coding	Benign/Likely_benign
3	139352793	G	T	G139352793T	MRPS22	NM_020191.3(MRPS22):c.878+1G>T	coding	Pathogenic/Likely_pathogenic
3	139355352	T	A	T139355352A	MRPS22	NM_020191.3(MRPS22):c.879-330T>A	noncoding	Benign
3	139356886	A	G	A139356886G	MRPS22	NM_020191.3(MRPS22):c.988-33A>G	noncoding	Benign
3	139373800	G	A	G139373800A	COPB2	NM_004766.3(COPB2):c.760C>T:p.Arg254Cys	coding	Pathogenic
3	139538885	T	C	T139538885C	RBP1	NM_002899.5(RBP1):c.334A>G:p.Met112Val	coding	Benign
3	140403621	T	G	T140403621G	CLSTN2	NM_022131.3(CLSTN2):c.233-8T>G	noncoding	Benign
3	140403768	C	A	C140403768A	CLSTN2	NM_022131.3(CLSTN2):c.372C>A:p.Ile124=	coding	Benign
3	140558844	C	T	C140558844T	CLSTN2	NM_022131.3(CLSTN2):c.2028C>T:p.Asp676=	coding	Benign
3	140562926	G	A	G140562926A	CLSTN2	NM_022131.3(CLSTN2):c.2328G>A:p.Gly776=	coding	Benign
3	141443021	G	C	G141443021C	ZBTB38	NM_001080412.3(ZBTB38):c.633G>C:p.Glu211Asp	coding	Benign
3	141444813	G	A	G141444813A	ZBTB38	NM_001080412.3(ZBTB38):c.2425G>A:p.Ala809Thr	coding	Benign
3	141445133	G	A	G141445133A	ZBTB38	NM_001080412.3(ZBTB38):c.2745G>A:p.Pro915=	coding	Benign
3	141445919	A	G	A141445919G	ZBTB38	NM_001080412.3(ZBTB38):c.3531A>G:p.Ser1177=	coding	Benign
3	141487109	C	T	C141487109T	RASA2	NM_006506.5(RASA2):c.26C>T:p.Ala9Val	coding	Benign
3	141487121	C	T	C141487121T	RASA2	NM_006506.5(RASA2):c.38C>T:p.Ser13Phe	coding	Benign
3	141516310	C	G	C141516310G	RASA2	NM_006506.4(RASA2):c.252-18C>G	noncoding	Benign
3	141529734	T	C	T141529734C	RASA2	NM_006506.5(RASA2):c.382T>C:p.Leu128=	coding	Benign
3	141553838	C	T	C141553838T	RASA2	NM_006506.4(RASA2):c.528-19C>T	noncoding	Benign
3	141553853	T	G	T141553853G	RASA2	NM_006506.5(RASA2):c.528-4T>G	noncoding	Benign/Likely_benign
3	141555885	G	A	G141555885A	RASA2	NM_006506.4(RASA2):c.657G>A:p.Pro219=	coding	Benign
3	141558970	C	T	C141558970T	RASA2	NM_006506.4(RASA2):c.761+8C>T	noncoding	Benign
3	141571088	G	A	G141571088A	RASA2	NM_006506.5(RASA2):c.1020+20G>A	noncoding	Benign
3	141574006	C	T	C141574006T	RASA2	NM_006506.5(RASA2):c.1422C>T:p.Cys474=	coding	Benign
3	141577065	G	T	G141577065T	RASA2	NM_006506.5(RASA2):c.1549G>T:p.Val517Leu	coding	Benign
3	141580380	A	G	A141580380G	RASA2	NM_006506.4(RASA2):c.1603A>G:p.Ile535Val	coding	Benign/Likely_benign
3	141586118	C	T	C141586118T	RASA2	NM_006506.5(RASA2):c.1826+20C>T	noncoding	Benign
3	141607760	T	C	T141607760C	RASA2	NM_006506.4(RASA2):c.2016T>C:p.Asn672=	coding	Benign
3	141608596	A	T	A141608596T	RASA2	NM_006506.4(RASA2):c.2124A>T:p.Gln708His	coding	Benign
3	141608635	C	T	C141608635T	RASA2	NM_006506.5(RASA2):c.2163C>T:p.Asn721=	coding	Benign/Likely_benign
3	141608687	C	G	C141608687G	RASA2	NM_006506.4(RASA2):c.2215C>G:p.Pro739Ala	coding	Benign
3	141609415	C	T	C141609415T	RASA2	NM_006506.4(RASA2):c.2226-5C>T	noncoding	Benign
3	141610061	G	C	G141610061C	RASA2	NM_006506.5(RASA2):c.2514G>C:p.Gly838=	coding	Benign
3	141610076	T	G	T141610076G	RASA2	NM_006506.4(RASA2):c.2519+10T>G	noncoding	Benign
3	142329608	A	G	A142329608G	XRN1	NM_001282857.2(XRN1):c.4230T>C:p.Tyr1410=	coding	Benign
3	142449489	C	T	C142449489T	ATR	NM_001184.4(ATR):c.7875G>A:p.Gln2625=	coding	Benign/Likely_benign
3	142449776	T	C	T142449776C	ATR	NM_001184.4(ATR):c.7762-174A>G	noncoding	Benign
3	142457435	T	G	T142457435G	ATR	NM_001184.4(ATR):c.7655+169A>C	noncoding	Benign
3	142457627	A	T	A142457627T	ATR	NM_001184.4(ATR):c.7632T>A:p.Arg2544=	coding	Benign
3	142459276	G	C	G142459276C	ATR	NM_001184.4(ATR):c.7300C>G:p.Pro2434Ala	coding	Benign
3	142459302	C	T	C142459302T	ATR	NM_001184.4(ATR):c.7274G>A:p.Arg2425Gln	coding	Benign
3	142465860	G	C	G142465860C	ATR	NM_001184.4(ATR):c.6897+464C>G	noncoding	Pathogenic
3	142466495	A	G	A142466495G	ATR	NM_001184.4(ATR):c.6726T>C:p.His2242=	coding	Benign
3	142467672	T	C	T142467672C	ATR	NM_001184.4(ATR):c.6687+262A>G	noncoding	Benign
3	142467932	A	G	A142467932G	ATR	NM_001184.4(ATR):c.6687+2T>C	noncoding	Pathogenic
3	142469458	T	C	T142469458C	ATR	NM_001184.4(ATR):c.6431A>G:p.Gln2144Arg	coding	Pathogenic
3	142469550	T	C	T142469550C	ATR	NM_001184.4(ATR):c.6339A>G:p.Val2113=	coding	Benign
3	142493223	A	G	A142493223G	ATR	NM_001184.4(ATR):c.5987T>C:p.Met1996Thr	coding	Benign
3	142496391	G	A	G142496391A	ATR	NM_001184.4(ATR):c.5868C>T:p.Tyr1956=	coding	Benign
3	142497116	C	A	C142497116A	ATR	NM_001184.4(ATR):c.5635G>T:p.Asp1879Tyr	coding	Pathogenic
3	142498695	A	G	A142498695G	ATR	NM_001184.4(ATR):c.5460T>C:p.Tyr1820=	coding	Benign/Likely_benign
3	142498815	G	A	G142498815A	ATR	NM_001184.4(ATR):c.5381-41C>T	noncoding	Benign
3	142503114	A	G	A142503114G	ATR	NM_001184.4(ATR):c.5288+248T>C	noncoding	Benign
3	142503232	C	T	C142503232T	ATR	NM_001184.4(ATR):c.5288+130G>A	noncoding	Benign
3	142503442	A	G	A142503442G	ATR	NM_001184.4(ATR):c.5208T>C:p.Tyr1736=	coding	Benign/Likely_benign
3	142503742	T	C	T142503742C	ATR	NM_001184.4(ATR):c.5197-289A>G	noncoding	Benign
3	142505265	G	A	G142505265A	ATR	NM_001184.4(ATR):c.5070C>T:p.Ala1690=	coding	Benign/Likely_benign
3	142512004	A	G	A142512004G	ATR	NM_001184.4(ATR):c.4852+256T>C	noncoding	Benign
3	142512277	T	C	T142512277C	ATR	NM_001184.4(ATR):c.4835A>G:p.Asn1612Ser	coding	Benign
3	142512292	C	T	C142512292T	ATR	NM_001184.4(ATR):c.4820G>A:p.Ser1607Asn	coding	Benign/Likely_benign
3	142512348	G	A	G142512348A	ATR	NM_001184.4(ATR):c.4764C>T:p.Leu1588=	coding	Benign/Likely_benign
3	142513500	C	A	C142513500A	ATR	NM_001184.4(ATR):c.4641+1G>T	noncoding	Pathogenic
3	142513901	A	T	A142513901T	ATR	NM_001184.4(ATR):c.4504-263T>A	noncoding	Benign
3	142515148	T	C	T142515148C	ATR	NM_001184.4(ATR):c.4503+247A>G	noncoding	Benign
3	142515692	G	A	G142515692A	ATR	NM_001184.4(ATR):c.4383-177C>T	noncoding	Benign
3	142515747	C	A	C142515747A	ATR	NM_001184.4(ATR):c.4383-232G>T	noncoding	Benign
3	142522608	T	A	T142522608A	ATR	NM_001184.4(ATR):c.4266+120A>T	noncoding	Benign
3	142524143	C	T	C142524143T	ATR	NM_001184.4(ATR):c.4002G>A:p.Gln1334=	coding	Benign
3	142536248	T	C	T142536248C	ATR	NM_001184.4(ATR):c.3726-47A>G	noncoding	Benign
3	142538505	G	A	G142538505A	ATR	NM_001184.4(ATR):c.3702C>T:p.Phe1234=	coding	Benign
3	142538927	A	G	A142538927G	ATR	NM_001184.4(ATR):c.3582-302T>C	noncoding	Benign
3	142541008	C	A	C142541008A	ATR	NM_001184.4(ATR):c.3477G>T:p.Met1159Ile	coding	Pathogenic
3	142549347	T	C	T142549347C	ATR	NM_001184.4(ATR):c.3171+132A>G	noncoding	Benign
3	142549530	C	T	C142549530T	ATR	NM_001184.4(ATR):c.3120G>A:p.Leu1040=	coding	Benign
3	142549607	G	A	G142549607A	ATR	NM_001184.4(ATR):c.3043C>T:p.Arg1015Ter	coding	Pathogenic
3	142550233	C	T	C142550233T	ATR	NM_001184.4(ATR):c.2875G>A:p.Val959Met	coding	Benign
3	142550264	T	G	T142550264G	ATR	NM_001184.4(ATR):c.2844A>C:p.Ala948=	coding	Benign/Likely_benign
3	142553472	G	A	G142553472A	ATR	NM_001184.4(ATR):c.2634-74C>T	noncoding	Benign
3	142553915	T	C	T142553915C	ATR	NM_001184.4(ATR):c.2442A>G:p.Glu814=	coding	Benign
3	142554190	T	C	T142554190C	ATR	NM_001184.4(ATR):c.2342-175A>G	noncoding	Benign
3	142555692	C	T	C142555692T	ATR	NM_001184.4(ATR):c.2341+185G>A	noncoding	Benign
3	142556439	T	C	T142556439C	ATR	NM_001184.4(ATR):c.2022A>G:p.Gly674=	coding	Pathogenic
3	142556511	C	T	C142556511T	ATR	NM_001184.4(ATR):c.1950G>A:p.Glu650=	coding	Benign
3	142558694	A	G	A142558694G	ATR	NM_001184.4(ATR):c.1815T>C:p.Asp605=	coding	Benign
3	142558733	A	T	A142558733T	ATR	NM_001184.4(ATR):c.1776T>A:p.Gly592=	coding	Benign/Likely_benign
3	142560954	T	C	T142560954C	ATR	NM_001184.4(ATR):c.1349+289A>G	noncoding	Benign
3	142561264	C	G	C142561264G	ATR	NM_001184.4(ATR):c.1328G>C:p.Arg443Thr	coding	Benign
3	142561266	T	C	T142561266C	ATR	NM_001184.4(ATR):c.1326A>G:p.Lys442=	coding	Benign
3	142562409	G	A	G142562409A	ATR	NM_001184.4(ATR):c.993C>T:p.Asp331=	coding	Benign
3	142562456	C	T	C142562456T	ATR	NM_001184.4(ATR):c.946G>A:p.Val316Ile	coding	Benign
3	142562511	C	G	C142562511G	ATR	NM_001184.4(ATR):c.891G>C:p.Lys297Asn	coding	Benign/Likely_benign
3	142562586	T	C	T142562586C	ATR	NM_001184.4(ATR):c.816A>G:p.Ser272=	coding	Benign/Likely_benign
3	142562770	A	G	A142562770G	ATR	NM_001184.4(ATR):c.632T>C:p.Met211Thr	coding	Benign/Likely_benign
3	142562979	A	G	A142562979G	ATR	NM_001184.4(ATR):c.423T>C:p.Ile141=	coding	Benign/Likely_benign
3	142563077	G	A	G142563077A	ATR	NM_001184.4(ATR):c.325C>T:p.Arg109Trp	coding	Benign
3	142563129	G	A	G142563129A	ATR	NM_001184.4(ATR):c.293-20C>T	noncoding	Benign
3	142566145	G	A	G142566145A	ATR	NM_001184.4(ATR):c.268C>T:p.His90Tyr	coding	Benign/Likely_benign
3	142567991	C	T	C142567991T	ATR	NM_001184.4(ATR):c.151+72G>A	noncoding	Benign
3	142568097	T	C	T142568097C	ATR	NM_001184.4(ATR):c.117A>G:p.Gln39=	coding	Benign/Likely_benign
3	142568205	T	A	T142568205A	ATR	NM_001184.4(ATR):c.60-51A>T	noncoding	Benign
3	142676175	T	C	T142676175C	PLS1	NM_001145319.2(PLS1):c.383T>C:p.Phe128Ser	coding	Pathogenic/Likely_pathogenic
3	142684400	A	G	A142684400G	PLS1	NM_001145319.2(PLS1):c.888+5A>G	noncoding	Benign
3	142686349	C	T	C142686349T	PLS1	NM_001145319.2(PLS1):c.954C>T:p.Ala318=	coding	Benign
3	142689660	G	A	G142689660A	PLS1	NM_001145319.2(PLS1):c.1024G>A:p.Ala342Thr	coding	Benign
3	142711992	G	T	G142711992T	PLS1	NM_001145319.2(PLS1):c.1875G>T:p.Leu625=	coding	Benign
3	142962878	G	A	G142962878A	PAQR9	NM_198504.4(PAQR9):c.459C>T:p.Phe153=	coding	Benign
3	142963166	G	A	G142963166A	PAQR9	NM_198504.4(PAQR9):c.171C>T:p.Cys57=	coding	Benign
3	143033315	A	T	A143033315T	U2SURP	NM_001080415.2(U2SURP):c.1818A>T:p.Ser606=	coding	Benign
3	143266816	G	A	G143266816A	SLC9A9	NM_173653.4(SLC9A9):c.1824C>T:p.Asp608=	coding	Benign
3	143268967	T	C	T143268967C	SLC9A9	NM_173653.4(SLC9A9):c.1618A>G:p.Ile540Val	coding	Benign
3	143363516	C	G	C143363516G	SLC9A9	NM_173653.4(SLC9A9):c.1572G>C:p.Arg524=	coding	Benign
3	143467078	A	G	A143467078G	SLC9A9	NM_173653.4(SLC9A9):c.1428T>C:p.Phe476=	coding	Benign
3	143467081	T	G	T143467081G	SLC9A9	NM_173653.4(SLC9A9):c.1425A>C:p.Val475=	coding	Benign
3	143574170	A	G	A143574170G	SLC9A9	NM_173653.4(SLC9A9):c.918T>C:p.Cys306=	coding	Benign
3	143578618	T	G	T143578618G	SLC9A9	NM_173653.4(SLC9A9):c.861A>C:p.Ala287=	coding	Benign
3	143578648	A	G	A143578648G	SLC9A9	NM_173653.4(SLC9A9):c.831T>C:p.Asn277=	coding	Benign
3	143578651	C	T	C143578651T	SLC9A9	NM_173653.4(SLC9A9):c.828G>A:p.Gly276=	coding	Benign
3	143578720	A	G	A143578720G	SLC9A9	NM_173653.4(SLC9A9):c.759T>C:p.Ser253=	coding	Benign
3	143652303	A	G	A143652303G	SLC9A9	NM_173653.4(SLC9A9):c.707T>C:p.Leu236Ser	coding	Benign
3	143794991	T	C	T143794991C	SLC9A9	NM_173653.4(SLC9A9):c.533+10A>G	noncoding	Benign
3	143832013	C	A	C143832013A	SLC9A9	NM_173653.4(SLC9A9):c.378+6G>T	noncoding	Benign
3	143832114	C	T	C143832114T	SLC9A9	NM_173653.4(SLC9A9):c.283G>A:p.Val95Ile	coding	Benign
3	143848176	C	T	C143848176T	SLC9A9	NM_173653.4(SLC9A9):c.147G>A:p.Leu49=	coding	Benign
3	146069870	G	A	G146069870A	PLOD2	NM_182943.3(PLOD2):c.*847C>T	noncoding	Benign
3	146069953	T	C	T146069953C	PLOD2	NM_182943.3(PLOD2):c.*764A>G	noncoding	Benign
3	146070546	A	C	A146070546C	PLOD2	NM_182943.3(PLOD2):c.*171T>G	noncoding	Benign
3	146070680	T	C	T146070680C	PLOD2	NM_182943.3(PLOD2):c.*37A>G	noncoding	Benign
3	146070685	A	G	A146070685G	PLOD2	NM_182943.3(PLOD2):c.*32T>C	noncoding	Benign
3	146070765	A	G	A146070765G	PLOD2	NM_182943.3(PLOD2):c.2229T>C:p.Pro743=	coding	Benign
3	146071016	T	C	T146071016C	PLOD2	NM_182943.3(PLOD2):c.2121+26A>G	noncoding	Benign
3	146071057	C	G	C146071057G	PLOD2	NM_182943.3(PLOD2):c.2106G>C:p.Val702=	coding	Benign
3	146071125	G	A	G146071125A	PLOD2	NM_182943.3(PLOD2):c.2038C>T:p.Arg680Ter	coding	Pathogenic/Likely_pathogenic
3	146071386	G	A	G146071386A	PLOD2	NM_182943.3(PLOD2):c.1886C>T:p.Thr629Ile	coding	Pathogenic
3	146071407	C	A	C146071407A	PLOD2	NM_182943.3(PLOD2):c.1865G>T:p.Gly622Val	coding	Pathogenic
3	146071416	C	T	C146071416T	PLOD2	NM_182943.3(PLOD2):c.1856G>A:p.Arg619His	coding	Pathogenic
3	146072732	T	A	T146072732A	PLOD2	NM_182943.3(PLOD2):c.1744-67A>T	noncoding	Benign
3	146076812	A	G	A146076812G	PLOD2	NM_182943.3(PLOD2):c.1647T>C:p.Asn549=	coding	Benign
3	146076815	G	A	G146076815A	PLOD2	NM_182943.3(PLOD2):c.1644C>T:p.Asn548=	coding	Benign/Likely_benign
3	146077632	G	C	G146077632C	PLOD2	NM_182943.3(PLOD2):c.1563+230C>G	noncoding	Benign
3	146077772	A	G	A146077772G	PLOD2	NM_182943.3(PLOD2):c.1563+90T>C	noncoding	Benign
3	146079104	T	C	T146079104C	PLOD2	NM_182943.3(PLOD2):c.1500+12A>G	noncoding	Benign
3	146079115	C	A	C146079115A	PLOD2	NM_182943.3(PLOD2):c.1500+1G>T	noncoding	Pathogenic
3	146085230	C	G	C146085230G	PLOD2	NM_182943.3(PLOD2):c.1171G>C:p.Val391Leu	coding	Benign
3	146085351	T	C	T146085351C	PLOD2	NM_182943.3(PLOD2):c.1128-78A>G	noncoding	Benign
3	146085355	T	A	T146085355A	PLOD2	NM_182943.3(PLOD2):c.1128-82A>T	noncoding	Benign
3	146086737	C	A	C146086737A	PLOD2	NM_182943.3(PLOD2):c.1127+50G>T	noncoding	Benign
3	146086785	A	G	A146086785G	PLOD2	NM_182943.3(PLOD2):c.1127+2T>C	noncoding	Pathogenic
3	146086806	C	T	C146086806T	PLOD2	NM_182943.3(PLOD2):c.1108G>A:p.Glu370Lys	coding	Benign/Likely_benign
3	146091542	T	C	T146091542C	PLOD2	NM_182943.3(PLOD2):c.879+258A>G	noncoding	Benign
3	146091818	G	A	G146091818A	PLOD2	NM_182943.3(PLOD2):c.861C>T:p.Val287=	coding	Benign
3	146091874	C	T	C146091874T	PLOD2	NM_182943.3(PLOD2):c.805G>A:p.Val269Ile	coding	Benign
3	146091963	T	C	T146091963C	PLOD2	NM_182943.3(PLOD2):c.778-62A>G	noncoding	Benign
3	146092224	A	C	A146092224C	PLOD2	NM_182943.3(PLOD2):c.778-323T>G	noncoding	Benign
3	146104019	A	G	A146104019G	PLOD2	NM_182943.3(PLOD2):c.679+260T>C	noncoding	Benign
3	146106238	T	C	T146106238C	PLOD2	NM_182943.3(PLOD2):c.615+294A>G	noncoding	Benign
3	146106615	G	A	G146106615A	PLOD2	NM_182943.3(PLOD2):c.532C>T:p.Arg178Cys	coding	Benign
3	146106691	A	G	A146106691G	PLOD2	NM_182943.3(PLOD2):c.503-47T>C	noncoding	Benign
3	146106717	G	A	G146106717A	PLOD2	NM_182943.3(PLOD2):c.503-73C>T	noncoding	Benign
3	146110737	G	A	G146110737A	PLOD2	NM_182943.3(PLOD2):c.339-289C>T	noncoding	Benign
3	146121108	C	T	C146121108T	PLOD2	NM_182943.3(PLOD2):c.338+4G>A	noncoding	Benign
3	146124067	T	C	T146124067C	PLOD2	NM_182943.3(PLOD2):c.201+71A>G	noncoding	Benign
3	146160834	C	G	C146160834G	PLOD2	NM_182943.3(PLOD2):c.109+47G>C	noncoding	Benign
3	146160980	A	T	A146160980T	PLOD2	NM_182943.3(PLOD2):c.10T>A:p.Cys4Ser	coding	Benign
3	146161093	C	A	C146161093A	PLOD2	NM_182943.3(PLOD2):c.-104G>T	noncoding	Benign
3	146161201	G	A	G146161201A	PLOD2	NM_000935.2(PLOD2):c.-212C>T	noncoding	Benign
3	146161401	G	A	G146161401A	PLOD2	NM_000935.2(PLOD2):c.-412C>T	noncoding	Benign
3	147390969	C	G	C147390969G	ZIC4	NM_001168379.1(ZIC4):c.1080G>C:p.Ser360=	coding	Benign
3	147390970	G	A	G147390970A	ZIC4	NM_001168378.1(ZIC4):c.1115C>T:p.Ser372Leu	coding	Benign
3	147391095	C	A	C147391095A	ZIC4	NM_001168378.1(ZIC4):c.990G>T:p.Ser330=	coding	Benign
3	147403964	C	T	C147403964T	ZIC4	NM_032153.5(ZIC4):c.-15-1152G>A	coding	Benign
3	147410517	G	A	G147410517A	ZIC1	NM_003412.4(ZIC1):c.405G>A:p.Thr135=	coding	Benign
3	147410565	C	G	C147410565G	ZIC1	NM_003412.4(ZIC1):c.453C>G:p.Ala151=	coding	Benign
3	147410835	G	A	G147410835A	ZIC1	NM_003412.4(ZIC1):c.723G>A:p.Ser241=	coding	Benign
3	147410901	C	T	C147410901T	ZIC1	NM_003412.4(ZIC1):c.789C>T:p.Gly263=	coding	Benign
3	147411057	C	T	C147411057T	ZIC1	NM_003412.4(ZIC1):c.945C>T:p.Arg315=	coding	Benign
3	147413370	C	A	C147413370A	ZIC1	NM_003412.4(ZIC1):c.1163C>A:p.Ser388Ter	coding	Pathogenic
3	147413372	C	T	C147413372T	ZIC1	NM_003412.4(ZIC1):c.1165C>T:p.Gln389Ter	coding	Pathogenic
3	147413405	G	C	G147413405C	ZIC1	NM_003412.4(ZIC1):c.1198G>C:p.Gly400Arg	coding	Pathogenic
3	147413411	G	T	G147413411T	ZIC1	NM_003412.4(ZIC1):c.1204G>T:p.Glu402Ter	coding	Pathogenic
3	147413482	C	G	C147413482G	ZIC1	NM_003412.4(ZIC1):c.1275C>G:p.Ser425=	coding	Benign
3	148697883	G	T	G148697883T	AGTR1	NM_031850.3(AGTR1):c.-329G>T	noncoding	Benign
3	148698075	C	A	C148698075A	AGTR1	NM_031850.3(AGTR1):c.-137C>A	noncoding	Benign
3	148741411	C	T	C148741411T	AGTR1	NM_000685.4(AGTR1):c.376C>T:p.Arg126Ter	coding	Pathogenic
3	148741608	C	T	C148741608T	AGTR1	NM_000685.4(AGTR1):c.573C>T:p.Leu191=	coding	Benign
3	148741765	G	T	G148741765T	AGTR1	NM_031850.3(AGTR1):c.835G>T:p.Ala279Ser	coding	Benign
3	148741880	C	T	C148741880T	AGTR1	NM_000685.4(AGTR1):c.845C>T:p.Thr282Met	coding	Pathogenic
3	148742097	A	G	A148742097G	AGTR1	NM_000685.4(AGTR1):c.1062A>G:p.Pro354=	coding	Benign
3	148742185	T	G	T148742185G	AGTR1	NM_031850.3(AGTR1):c.*70T>G	noncoding	Benign
3	148742201	A	C	A148742201C	AGTR1	NM_031850.3(AGTR1):c.*86A>C	noncoding	Benign
3	148742208	A	G	A148742208G	AGTR1	NM_031850.3(AGTR1):c.*93A>G	noncoding	Benign
3	148742250	C	T	C148742250T	AGTR1	NM_031850.3(AGTR1):c.*135C>T	noncoding	Benign
3	148742432	G	A	G148742432A	AGTR1	NM_031850.3(AGTR1):c.*317G>A	noncoding	Benign
3	148742552	G	T	G148742552T	AGTR1	NM_031850.3(AGTR1):c.*437G>T	noncoding	Benign
3	148742576	C	A	C148742576A	AGTR1	NM_031850.3(AGTR1):c.*461C>A	noncoding	Benign
3	148742913	G	A	G148742913A	AGTR1	NM_031850.3(AGTR1):c.*798G>A	noncoding	Benign
3	148844522	C	T	C148844522T	CPB1	NM_001871.3(CPB1):c.621C>T:p.Leu207=	coding	Benign
3	148844773	T	C	T148844773C	CPB1	NM_001871.3(CPB1):c.778+6T>C	noncoding	Benign
3	148859930	C	G	C148859930G	CPB1	NM_001871.3(CPB1):c.1182C>G:p.Ile394Met	coding	Benign
3	148881557	C	G	C148881557G	CPA3	NM_001870.4(CPA3):c.612C>G:p.Thr204=	coding	Benign
3	148883652	G	C	G148883652C	CPA3	NM_001870.4(CPA3):c.818G>C:p.Arg273Pro	coding	Benign
3	148883682	C	T	C148883682T	CPA3	NM_001870.4(CPA3):c.848C>T:p.Thr283Met	coding	Benign
3	148991743	C	G	C148991743G	GYG1	NM_004130.3(GYG1):c.7+96C>G	noncoding	Benign
3	148991963	G	A	G148991963A	GYG1	NM_004130.3(GYG1):c.7+316G>A	noncoding	Benign
3	148994248	C	T	C148994248T	GYG1	NM_004130.3(GYG1):c.114C>T:p.Leu38=	coding	Benign
3	148994271	C	G	C148994271G	GYG1	NM_004130.3(GYG1):c.137C>G:p.Ser46Cys	coding	Benign
3	148994280	G	C	G148994280C	GYG1	NM_004130.3(GYG1):c.143+3G>C	noncoding	Pathogenic
3	148996312	G	T	G148996312T	GYG1	NM_004130.3(GYG1):c.154G>T:p.Glu52Ter	coding	Pathogenic
3	148996317	A	G	A148996317G	GYG1	NM_004130.3(GYG1):c.159A>G:p.Thr53=	coding	Benign
3	148996406	C	T	C148996406T	GYG1	NM_004130.3(GYG1):c.248C>T:p.Thr83Met	coding	Pathogenic
3	148996730	C	T	C148996730T	GYG1	NM_004130.3(GYG1):c.319-12C>T	noncoding	Benign
3	148996875	A	T	A148996875T	GYG1	NM_004130.3(GYG1):c.452A>T:p.His151Leu	coding	Benign
3	149009180	T	G	T149009180G	GYG1	NM_004130.3(GYG1):c.482-96T>G	noncoding	Benign
3	149009346	G	A	G149009346A	GYG1	NM_004130.3(GYG1):c.552G>A:p.Pro184=	coding	Benign
3	149009649	C	T	C149009649T	GYG1	NM_004130.3(GYG1):c.608+247C>T	noncoding	Benign
3	149024053	G	A	G149024053A	GYG1	NM_004130.3(GYG1):c.609G>A:p.Val203=	coding	Benign/Likely_benign
3	149024193	G	A	G149024193A	GYG1	NM_001184721.1(GYG1):c.609-2567G>A	coding	Pathogenic
3	149024263	T	A	T149024263A	GYG1	NM_004130.4(GYG1):c.819T>A:p.Tyr273Ter	coding	Pathogenic
3	149026429	A	G	A149026429G	GYG1	NM_004130.3(GYG1):c.829-23A>G	noncoding	Benign
3	149026850	C	T	C149026850T	GYG1	NM_004130.3(GYG1):c.970C>T:p.Arg324Ter	coding	Pathogenic
3	149041582	T	C	T149041582C	HLTF	NM_003071.4(HLTF):c.2284A>G:p.Ile762Val	coding	Benign
3	149050343	T	C	T149050343C	HLTF	NM_003071.4(HLTF):c.1506A>G:p.Val502=	coding	Benign
3	149063464	C	T	C149063464T	HLTF	NM_003071.4(HLTF):c.1127G>A:p.Arg376His	coding	Benign
3	149063507	C	G	C149063507G	HLTF	NM_003071.4(HLTF):c.1084G>C:p.Glu362Gln	coding	Benign
3	149064862	T	C	T149064862C	HLTF	NM_003071.4(HLTF):c.995A>G:p.Tyr332Cys	coding	Benign
3	149071340	T	C	T149071340C	HLTF	NM_003071.4(HLTF):c.806A>G:p.Asp269Gly	coding	Benign
3	149084826	G	A	G149084826A	HLTF	NM_003071.4(HLTF):c.84C>T:p.Leu28=	coding	Benign
3	149129654	T	C	T149129654C	HPS3	NM_032383.5(HPS3):c.-70T>C	noncoding	Benign
3	149129738	C	G	C149129738G	HPS3	NM_032383.5(HPS3):c.15C>G:p.Tyr5Ter	coding	Pathogenic
3	149129881	A	G	A149129881G	HPS3	NM_032383.5(HPS3):c.158A>G:p.Gln53Arg	coding	Benign
3	149129922	C	T	C149129922T	HPS3	NM_032383.5(HPS3):c.199C>T:p.Leu67=	coding	Benign
3	149141127	G	A	G149141127A	HPS3	NM_032383.5(HPS3):c.823G>A:p.Glu275Lys	coding	Benign/Likely_benign
3	149141387	A	G	A149141387G	HPS3	NM_032383.5(HPS3):c.970+7A>G	noncoding	Benign
3	149145364	A	G	A149145364G	HPS3	NM_032383.5(HPS3):c.981A>G:p.Thr327=	coding	Benign
3	149145484	C	G	C149145484G	HPS3	NM_032383.5(HPS3):c.1101C>G:p.Tyr367Ter	coding	Pathogenic
3	149145547	G	A	G149145547A	HPS3	NM_032383.5(HPS3):c.1163+1G>A	coding	Pathogenic
3	149150574	C	T	C149150574T	HPS3	NM_032383.5(HPS3):c.1164-25C>T	noncoding	Benign
3	149153614	A	G	A149153614G	HPS3	NM_032383.5(HPS3):c.1366A>G:p.Ile456Val	coding	Benign
3	149153633	C	A	C149153633A	HPS3	NM_032383.5(HPS3):c.1385C>A:p.Ser462Ter	coding	Pathogenic
3	149155185	G	A	G149155185A	HPS3	NM_032383.5(HPS3):c.1479G>A:p.Thr493=	coding	Benign
3	149155200	G	A	G149155200A	HPS3	NM_032383.5(HPS3):c.1494G>A:p.Gln498=	coding	Benign
3	149157428	C	T	C149157428T	HPS3	NM_032383.5(HPS3):c.1588C>T:p.Arg530Ter	coding	Pathogenic
3	149157533	T	G	T149157533G	HPS3	NM_032383.5(HPS3):c.1691+2T>G	noncoding	Pathogenic
3	149158747	G	A	G149158747A	HPS3	NM_032383.5(HPS3):c.1773G>A:p.Thr591=	coding	Benign/Likely_benign
3	149158812	C	G	C149158812G	HPS3	NM_032383.5(HPS3):c.1838C>G:p.Ser613Ter	coding	Pathogenic
3	149158835	G	T	G149158835T	HPS3	NM_032383.5(HPS3):c.1861G>T:p.Glu621Ter	coding	Pathogenic
3	149158844	G	T	G149158844T	HPS3	NM_032383.5(HPS3):c.1870G>T:p.Glu624Ter	coding	Pathogenic
3	149160228	G	A	G149160228A	HPS3	NM_032383.5(HPS3):c.2055G>A:p.Leu685=	coding	Benign/Likely_benign
3	149162237	C	T	C149162237T	HPS3	NM_032383.5(HPS3):c.2196C>T:p.His732=	coding	Benign
3	149162256	G	A	G149162256A	HPS3	NM_032383.5(HPS3):c.2215G>A:p.Gly739Arg	coding	Benign
3	149162861	C	T	C149162861T	HPS3	NM_032383.5(HPS3):c.2464C>T:p.Arg822Ter	coding	Pathogenic
3	149162866	A	G	A149162866G	HPS3	NM_032383.5(HPS3):c.2469A>G:p.Thr823=	coding	Benign/Likely_benign
3	149162868	C	A	C149162868A	HPS3	NM_032383.5(HPS3):c.2471C>A:p.Ser824Ter	coding	Pathogenic
3	149163840	A	G	A149163840G	HPS3	NM_032383.5(HPS3):c.2482-2A>G	noncoding	Pathogenic
3	149163886	C	T	C149163886T	HPS3	NM_032383.5(HPS3):c.2526C>T:p.His842=	coding	Benign
3	149163887	G	A	G149163887A	HPS3	NM_032383.5(HPS3):c.2527G>A:p.Val843Ile	coding	Benign
3	149163950	G	C	G149163950C	HPS3	NM_032383.5(HPS3):c.2589+1G>C	coding	Pathogenic
3	149167290	C	T	C149167290T	HPS3	NM_032383.5(HPS3):c.2796+50C>T	noncoding	Benign
3	149170483	G	A	G149170483A	CP;HPS3	NM_032383.5(HPS3):c.2888-1612G>A	noncoding	Pathogenic
3	149172350	A	G	A149172350G	CP;HPS3	NM_032383.5(HPS3):c.*128A>G	noncoding	Benign/Likely_benign
3	149172394	G	A	G149172394A	CP;HPS3	NM_032383.5(HPS3):c.*172G>A	noncoding	Benign/Likely_benign
3	149172557	G	A	G149172557A	CP;HPS3	NM_000096.4(CP):c.*1157C>T	noncoding	Benign/Likely_benign
3	149172945	C	T	C149172945T	HPS3;CP	NM_000096.4(CP):c.*769G>A	noncoding	Benign
3	149172946	A	G	A149172946G	CP;HPS3	NM_000096.4(CP):c.*768T>C	noncoding	Benign/Likely_benign
3	149173240	A	G	A149173240G	CP;HPS3	NM_000096.4(CP):c.*474T>C	noncoding	Benign
3	149173734	T	C	T149173734C	HPS3;CP	NM_000096.4(CP):c.3182-4A>G	noncoding	Benign/Likely_benign
3	149176413	C	T	C149176413T	CP	NM_000096.4(CP):c.3019-1G>A	coding	Pathogenic
3	149177861	G	A	G149177861A	CP	NM_000096.4(CP):c.2997C>T:p.His999=	coding	Benign/Likely_benign
3	149177867	A	C	A149177867C	CP	NM_000096.4(CP):c.2991T>G:p.His997Gln	coding	Pathogenic
3	149177867	A	G	A149177867G	CP;HPS3	NM_000096.4(CP):c.2991T>C:p.His997=	coding	Benign/Likely_benign
3	149177896	C	T	C149177896T	CP	NM_000096.4(CP):c.2962G>A:p.Gly988Ser	coding	Pathogenic
3	149177905	T	C	T149177905C	CP	NM_000096.4(CP):c.2953A>G:p.Met985Val	coding	Pathogenic
3	149177980	C	T	C149177980T	CP	NM_000096.4(CP):c.2879-1G>A	coding	Pathogenic
3	149178403	A	C	A149178403C	CP	NM_000096.4(CP):c.2878+12T>G	noncoding	Benign
3	149178592	G	A	G149178592A	CP	NM_000096.4(CP):c.2701C>T:p.Arg901Ter	coding	Pathogenic
3	149178618	C	T	C149178618T	CP	NM_000096.4(CP):c.2675G>A:p.Gly892Glu	coding	Pathogenic
3	149178623	G	C	G149178623C	CP	NM_000096.4(CP):c.2670C>G:p.Tyr890Ter	coding	Pathogenic
3	149178643	A	G	A149178643G	CP	NM_000096.4(CP):c.2662-12T>C	noncoding	Benign
3	149179587	C	T	C149179587T	CP	NM_000096.4(CP):c.2630G>A:p.Trp877Ter	coding	Pathogenic
3	149181988	C	T	C149181988T	CP	NM_000096.4(CP):c.2554+17G>A	noncoding	Benign
3	149181991	G	C	G149181991C	CP	NM_000096.4(CP):c.2554+14C>G	noncoding	Benign
3	149182004	C	A	C149182004A	CP	NM_000096.4(CP):c.2554+1G>T	noncoding	Pathogenic
3	149182034	T	C	T149182034C	CP	NM_000096.4(CP):c.2525A>G:p.Glu842Gly	coding	Benign
3	149182061	G	C	G149182061C	CP	NM_000096.4(CP):c.2498C>G:p.Ser833Ter	coding	Pathogenic
3	149183513	C	T	C149183513T	CP	NM_000096.4(CP):c.2378G>A:p.Arg793His	coding	Benign/Likely_benign
3	149183617	A	C	A149183617C	CP	NM_000096.4(CP):c.2286-12T>G	noncoding	Benign
3	149183620	C	A	C149183620A	CP	NM_000096.4(CP):c.2286-15G>T	noncoding	Benign
3	149185271	C	T	C149185271T	CP	NM_000096.4(CP):c.2253G>A:p.Trp751Ter	coding	Pathogenic
3	149185393	G	T	G149185393T	CP	NM_000096.4(CP):c.2131C>A:p.Gln711Lys	coding	Pathogenic
3	149186647	T	G	T149186647G	CP	NM_000096.4(CP):c.1950A>C:p.Gly650=	coding	Benign
3	149186649	C	T	C149186649T	CP	NM_000096.4(CP):c.1948G>A:p.Gly650Arg	coding	Pathogenic/Likely_pathogenic
3	149186723	C	T	C149186723T	CP	NM_000096.4(CP):c.1874G>A:p.Gly625Glu	coding	Pathogenic
3	149186733	C	T	C149186733T	CP	NM_000096.4(CP):c.1865-1G>A	coding	Pathogenic
3	149198428	G	A	G149198428A	CP	NM_000096.4(CP):c.1652C>T:p.Thr551Ile	coding	Benign/Likely_benign
3	149198448	T	A	T149198448A	CP	NM_000096.4(CP):c.1632A>T:p.Glu544Asp	coding	Benign
3	149199877	A	G	A149199877G	CP	NM_000096.4(CP):c.1349-13T>C	noncoding	Benign
3	149202093	A	G	A149202093G	CP	NM_000096.4(CP):c.1348+9T>C	noncoding	Benign
3	149202175	A	G	A149202175G	CP	NM_000096.4(CP):c.1275T>C:p.Tyr425=	coding	Benign
3	149202243	T	C	T149202243C	CP	NM_000096.4(CP):c.1209-2A>G	noncoding	Pathogenic
3	149206167	C	T	C149206167T	CP	NM_000096.4(CP):c.1208+1G>A	noncoding	Pathogenic
3	149206253	A	G	A149206253G	CP	NM_000096.4(CP):c.1123T>C:p.Tyr375His	coding	Pathogenic
3	149206277	G	A	G149206277A	CP	NM_000096.4(CP):c.1099C>T:p.Arg367Cys	coding	Benign/Likely_benign
3	149206327	G	T	G149206327T	CP	NM_000096.4(CP):c.1049C>A:p.Ala350Asp	coding	Pathogenic
3	149207387	A	T	A149207387T	CP	NM_000096.4(CP):c.1012T>A:p.Cys338Ser	coding	Pathogenic
3	149207406	A	G	A149207406G	CP	NM_000096.4(CP):c.993T>C:p.Pro331=	coding	Benign/Likely_benign
3	149207551	C	G	C149207551G	CP	NM_000096.4(CP):c.848G>C:p.Trp283Ser	coding	Pathogenic
3	149207631	G	A	G149207631A	CP	NM_000096.4(CP):c.782-14C>T	noncoding	Benign
3	149209323	C	G	C149209323G	CP	NM_000096.4(CP):c.669G>C:p.Val223=	coding	Benign
3	149209342	A	G	A149209342G	CP	NM_000096.4(CP):c.650T>C:p.Phe217Ser	coding	Pathogenic
3	149209349	G	A	G149209349A	CP	NM_000096.4(CP):c.643C>T:p.Arg215Ter	coding	Pathogenic
3	149210166	C	T	C149210166T	CP	NM_000096.4(CP):c.607+1G>A	noncoding	Pathogenic
3	149210187	G	C	G149210187C	CP	NM_000096.4(CP):c.587C>G:p.Pro196Arg	coding	Pathogenic
3	149210226	A	G	A149210226G	CP	NM_000096.4(CP):c.548T>C:p.Ile183Thr	coding	Pathogenic
3	149210281	G	C	G149210281C	CP	NM_000096.4(CP):c.493C>G:p.Gln165Glu	coding	Pathogenic
3	149210317	C	T	C149210317T	CP	NM_000096.4(CP):c.457G>A:p.Glu153Lys	coding	Benign
3	149210380	C	T	C149210380T	CP	NM_000096.4(CP):c.395-1G>A	coding	Pathogenic
3	149212498	G	T	G149212498T	CP	NM_000096.4(CP):c.347C>A:p.Pro116His	coding	Benign
3	149212700	T	C	T149212700C	CP	NM_000096.4(CP):c.147-2A>G	noncoding	Pathogenic
3	149221646	C	T	C149221646T	CP	NM_000096.4(CP):c.146+1G>A	noncoding	Pathogenic
3	149221711	T	A	T149221711A	CP	NM_000096.4(CP):c.82A>T:p.Ile28Phe	coding	Pathogenic
3	149911994	G	A	G149911994A	RNF13	NM_007282.4(RNF13):c.517G>A:p.Val173Ile	coding	Benign
3	149960048	G	C	G149960048C	RNF13	NM_007282.4(RNF13):c.701-8G>C	noncoding	Benign
3	149960890	T	C	T149960890C	RNF13	NM_007282.4(RNF13):c.932T>C:p.Leu311Ser	coding	Pathogenic
3	149960893	T	C	T149960893C	RNF13	NM_007282.4(RNF13):c.935T>C:p.Leu312Pro	coding	Pathogenic
3	150742261	G	A	G150742261A	SIAH2	NM_005067.7(SIAH2):c.855C>T:p.Asp285=	coding	Benign
3	150742270	C	G	C150742270G	SIAH2	NM_005067.7(SIAH2):c.846G>C:p.Ser282=	coding	Benign
3	150926972	G	A	G150926972A	CLRN1	NM_174878.3(CLRN1):c.*964C>T	coding	Benign
3	150927052	T	G	T150927052G	CLRN1	NM_174878.3(CLRN1):c.*884A>C	coding	Benign
3	150927564	G	A	G150927564A	CLRN1	NM_174878.3(CLRN1):c.*372C>T	coding	Benign
3	150927621	G	A	G150927621A	CLRN1	NM_174878.3(CLRN1):c.*315C>T	coding	Benign
3	150927931	G	A	G150927931A	CLRN1	NM_174878.3(CLRN1):c.*5C>T	coding	Benign
3	150928016	G	A	G150928016A	CLRN1	NM_174878.3(CLRN1):c.619C>T:p.Arg207Ter	coding	Pathogenic
3	150928065	C	T	C150928065T	CLRN1	NM_174878.3(CLRN1):c.570G>A:p.Trp190Ter	coding	Pathogenic
3	150928107	A	C	A150928107C	CLRN1	NM_174878.3(CLRN1):c.528T>G:p.Tyr176Ter	coding	Pathogenic
3	150928174	A	C	A150928174C	CLRN1	NM_174878.3(CLRN1):c.461T>G:p.Leu154Trp	coding	Pathogenic
3	150928186	A	G	A150928186G	CLRN1	NM_174878.3(CLRN1):c.449T>C:p.Leu150Pro	coding	Pathogenic
3	150928443	A	G	A150928443G	CLRN1	NM_174878.3(CLRN1):c.434-242T>C	noncoding	Benign
3	150928492	A	T	A150928492T	CLRN1	NM_174878.3(CLRN1):c.434-291T>A	noncoding	Benign
3	150940194	T	G	T150940194G	CLRN1	NM_174878.3(CLRN1):c.433+1388A>C	noncoding	Benign
3	150940477	G	A	G150940477A	CLRN1	NM_174878.3(CLRN1):c.433+1105C>T	noncoding	Benign
3	150941581	C	T	C150941581T	CLRN1	NM_174878.3(CLRN1):c.433+1G>A	noncoding	Pathogenic
3	150941596	A	T	A150941596T	CLRN1	NM_174878.3(CLRN1):c.419T>A:p.Leu140Ter	coding	Pathogenic
3	150941647	G	T	G150941647T	CLRN1	NM_174878.3(CLRN1):c.368C>A:p.Ala123Asp	coding	Pathogenic/Likely_pathogenic
3	150941656	A	T	A150941656T	CLRN1	NM_174878.3(CLRN1):c.359T>A:p.Met120Lys	coding	Pathogenic
3	150941692	A	G	A150941692G	CLRN1	NM_174878.3(CLRN1):c.323T>C:p.Leu108Pro	coding	Pathogenic
3	150941763	T	C	T150941763C	CLRN1	NM_174878.3(CLRN1):c.254-2A>G	noncoding	Pathogenic
3	150942410	A	C	A150942410C	CLRN1	NM_052995.2(CLRN1):c.26-649T>G	noncoding	Pathogenic
3	150972520	G	T	G150972520T	CLRN1	NM_174878.3(CLRN1):c.189C>A:p.Tyr63Ter	coding	Pathogenic
3	150972565	A	C	A150972565C	CLRN1;CLRN1-AS1	NM_174878.3(CLRN1):c.144T>G:p.Asn48Lys	coding	Pathogenic
3	150972617	G	A	G150972617A	CLRN1	NM_174878.3(CLRN1):c.92C>T:p.Pro31Leu	coding	Pathogenic
3	150972642	C	A	C150972642A	CLRN1	NM_174878.3(CLRN1):c.67G>T:p.Gly23Ter	coding	Pathogenic
3	150972644	A	T	A150972644T	CLRN1	NM_174878.3(CLRN1):c.65T>A:p.Leu22His	coding	Pathogenic
3	150972652	T	A	T150972652A	CLRN1	NM_174878.3(CLRN1):c.57A>T:p.Ala19=	coding	Benign
3	150972703	T	G	T150972703G	CLRN1	NM_174878.3(CLRN1):c.6A>C:p.Pro2=	coding	Benign
3	150972779	T	C	T150972779C	CLRN1	NM_001195794.1(CLRN1):c.-71A>G	noncoding	Benign
3	151199372	C	T	C151199372T	GPR171	NM_013308.4(GPR171):c.15G>A:p.Ser5=	coding	Benign
3	151213415	G	A	G151213415A	P2RY14	NM_014879.4(P2RY14):c.902C>T:p.Pro301Leu	coding	Benign
3	151337857	T	C	T151337857C	P2RY12	NM_022788.5(P2RY12):c.989A>G:p.Glu330Gly	coding	Benign
3	151338052	C	G	C151338052G	P2RY12	NM_053002.5(MED12L):c.2146-12007C>G	coding	Pathogenic/Likely_pathogenic
3	151338053	G	A	G151338053A	P2RY12	NM_053002.5(MED12L):c.2146-12006G>A	coding	Pathogenic
3	151338079	C	T	C151338079T	P2RY12	NM_053002.5(MED12L):c.2146-11980C>T	coding	Pathogenic
3	151338386	A	G	A151338386G	P2RY12	NM_022788.5(P2RY12):c.460T>C:p.Leu154=	coding	Benign
3	151338810	A	C	A151338810C	P2RY12	NM_053002.5(MED12L):c.2146-11249A>C	coding	Benign
3	151338828	G	A	G151338828A	P2RY12	NM_053002.5(MED12L):c.2146-11231G>A	coding	Benign
3	151356046	A	G	A151356046G	MED12L	NM_022788.5(P2RY12):c.-179-15286T>C	noncoding	Benign
3	151368163	G	C	G151368163C	MED12L	NM_022788.5(P2RY12):c.-180+16529C>G	coding	Benign
3	151372635	C	T	C151372635T	MED12L	NM_022788.5(P2RY12):c.-180+12057G>A	coding	Pathogenic
3	151380112	G	A	G151380112A	MED12L	NM_022788.5(P2RY12):c.-180+4580C>T	noncoding	Pathogenic
3	151380116	G	A	G151380116A	MED12L	NM_022788.5(P2RY12):c.-180+4576C>T	coding	Pathogenic
3	151384082	G	A	G151384082A	MED12L	NM_022788.5(P2RY12):c.-180+610C>T	noncoding	Pathogenic
3	151390003	C	T	C151390003T	MED12L	NM_053002.5(MED12L):c.5371C>T:p.Arg1791Ter	coding	Pathogenic
3	151436721	C	T	C151436721T	IGSF10	NM_178822.4(IGSF10):c.7840G>A:p.Asp2614Asn	coding	Benign
3	151436993	A	G	A151436993G	IGSF10	NM_178822.4(IGSF10):c.7568T>C:p.Ile2523Thr	coding	Benign
3	151437187	T	C	T151437187C	IGSF10	NM_178822.4(IGSF10):c.7374A>G:p.Gly2458=	coding	Benign
3	151437213	G	A	G151437213A	IGSF10	NM_178822.4(IGSF10):c.7348C>T:p.Leu2450=	coding	Benign
3	151437256	A	G	A151437256G	IGSF10	NM_178822.4(IGSF10):c.7305T>C:p.Leu2435=	coding	Benign
3	151437307	G	A	G151437307A	IGSF10	NM_178822.4(IGSF10):c.7254C>T:p.Gly2418=	coding	Benign
3	151437344	G	A	G151437344A	IGSF10	NM_178822.4(IGSF10):c.7217C>T:p.Ala2406Val	coding	Benign
3	151437409	T	C	T151437409C	IGSF10	NM_178822.4(IGSF10):c.7152A>G:p.Gln2384=	coding	Benign
3	151438078	A	G	A151438078G	IGSF10	NM_178822.4(IGSF10):c.6483T>C:p.Leu2161=	coding	Benign
3	151438114	G	A	G151438114A	IGSF10	NM_178822.4(IGSF10):c.6447C>T:p.Thr2149=	coding	Benign
3	151438225	C	A	C151438225A	IGSF10	NM_178822.4(IGSF10):c.6336G>T:p.Ala2112=	coding	Benign
3	151438225	C	T	C151438225T	IGSF10	NM_178822.4(IGSF10):c.6336G>A:p.Ala2112=	coding	Benign
3	151438372	G	A	G151438372A	IGSF10	NM_178822.4(IGSF10):c.6189C>T:p.Ser2063=	coding	Benign
3	151443640	T	C	T151443640C	IGSF10	NM_178822.4(IGSF10):c.5307A>G:p.Ala1769=	coding	Benign
3	151445345	G	A	G151445345A	IGSF10	NM_178822.4(IGSF10):c.4636C>T:p.Leu1546=	coding	Benign
3	151445385	G	A	G151445385A	IGSF10	NM_178822.4(IGSF10):c.4596C>T:p.Ala1532=	coding	Benign
3	151445417	C	T	C151445417T	IGSF10	NM_178822.4(IGSF10):c.4564G>A:p.Val1522Ile	coding	Benign
3	151445835	G	A	G151445835A	IGSF10	NM_178822.4(IGSF10):c.4146C>T:p.Ala1382=	coding	Benign
3	151445872	G	A	G151445872A	IGSF10	NM_178822.4(IGSF10):c.4109C>T:p.Thr1370Ile	coding	Benign
3	151445877	G	A	G151445877A	IGSF10	NM_178822.4(IGSF10):c.4104C>T:p.Phe1368=	coding	Benign
3	151446269	T	C	T151446269C	IGSF10	NM_178822.4(IGSF10):c.3712A>G:p.Thr1238Ala	coding	Benign
3	151446886	C	T	C151446886T	IGSF10	NM_178822.4(IGSF10):c.3095G>A:p.Arg1032Gln	coding	Benign
3	151447103	C	G	C151447103G	IGSF10	NM_178822.4(IGSF10):c.2878G>C:p.Glu960Gln	coding	Benign
3	151447982	G	T	G151447982T	IGSF10	NM_178822.4(IGSF10):c.1999C>A:p.Gln667Lys	coding	Benign
3	151448261	C	T	C151448261T	IGSF10	NM_178822.4(IGSF10):c.1720G>A:p.Glu574Lys	coding	Benign
3	151453703	T	C	T151453703C	IGSF10	NM_178822.4(IGSF10):c.396A>G:p.Thr132=	coding	Benign
3	151453728	G	A	G151453728A	IGSF10	NM_178822.4(IGSF10):c.371C>T:p.Thr124Ile	coding	Benign
3	151880738	C	T	C151880738T	SUCNR1	NM_033050.6(SUCNR1):c.195C>T:p.Leu65=	coding	Benign
3	152268473	C	T	C152268473T	MBNL1	NM_001376819.1(MBNL1):c.-790+24033C>T	noncoding	Benign
3	155085050	T	C	T155085050C	MME	NM_007289.4(MME):c.161-9T>C	noncoding	Benign
3	155114990	G	C	G155114990C	MME	NM_007289.4(MME):c.197-4G>C	noncoding	Benign/Likely_benign
3	155114999	C	T	C155114999T	MME	NM_007289.4(MME):c.202C>T:p.Arg68Ter	coding	Pathogenic/Likely_pathogenic
3	155116548	G	A	G155116548A	MME	NM_000902.4(MME):c.428G>A:p.Cys143Tyr	coding	Pathogenic
3	155116561	T	A	T155116561A	MME	NM_000902.4(MME):c.439+2T>A	noncoding	Pathogenic
3	155116662	A	C	A155116662C	MME	NM_007289.3(MME):c.440-2A>C	noncoding	Pathogenic/Likely_pathogenic
3	155116719	T	C	T155116719C	MME	NM_007289.4(MME):c.495T>C:p.Tyr165=	coding	Benign
3	155116987	G	A	G155116987A	MME	NM_000902.4(MME):c.654+1G>A	coding	Pathogenic
3	155118744	A	G	A155118744G	MME	NM_000902.4(MME):c.655-2A>G	noncoding	Pathogenic
3	155118752	C	T	C155118752T	MME	NM_000902.4(MME):c.661C>T:p.Gln221Ter	coding	Pathogenic
3	155138167	G	A	G155138167A	MME	NM_007289.4(MME):c.786G>A:p.Leu262=	coding	Benign
3	155142065	G	T	G155142065T	MME	NM_007289.4(MME):c.1032G>T:p.Val344=	coding	Benign
3	155142066	G	A	G155142066A	MME	NM_007289.3(MME):c.1033G>A:p.Val345Ile	coding	Benign/Likely_benign
3	155142080	A	G	A155142080G	MME	NM_007289.4(MME):c.1047A>G:p.Pro349=	coding	Benign
3	155142233	A	G	A155142233G	MME	NM_007289.4(MME):c.1095-4A>G	noncoding	Benign
3	155143445	C	T	C155143445T	MME	NM_007289.4(MME):c.1191C>T:p.Ala397=	coding	Benign
3	155143505	G	A	G155143505A	MME	NM_007289.4(MME):c.1251G>A:p.Gly417=	coding	Benign
3	155143509	A	C	A155143509C	MME	NM_007289.4(MME):c.1255A>C:p.Met419Leu	coding	Benign
3	155144383	C	T	C155144383T	MME	NM_007289.4(MME):c.1342C>T:p.Arg448Ter	coding	Pathogenic
3	155148616	C	T	C155148616T	MME	NM_007289.3(MME):c.1564C>T:p.Gln522Ter	coding	Pathogenic
3	155168490	A	G	A155168490G	MME	NM_007289.3(MME):c.1781-2A>G	noncoding	Pathogenic
3	155168572	T	C	T155168572C	MME	NM_000902.4(MME):c.1861T>C:p.Cys621Arg	coding	Pathogenic
3	155172592	G	A	G155172592A	MME	NM_007289.4(MME):c.2133G>A:p.Val711=	coding	Benign
3	155481195	G	T	G155481195T	PLCH1	NM_014996.4(PLCH1):c.4831C>A:p.Pro1611Thr	coding	Benign
3	155482186	A	G	A155482186G	PLCH1	NM_014996.4(PLCH1):c.3840T>C:p.Asp1280=	coding	Benign
3	155482555	G	T	G155482555T	PLCH1	NM_014996.4(PLCH1):c.3471C>A:p.Asp1157Glu	coding	Benign
3	155482672	G	A	G155482672A	PLCH1	NM_014996.4(PLCH1):c.3354C>T:p.Ser1118=	coding	Benign
3	155482713	G	A	G155482713A	PLCH1	NM_014996.4(PLCH1):c.3313C>T:p.Pro1105Ser	coding	Benign
3	155486171	T	A	T155486171A	PLCH1	NM_014996.4(PLCH1):c.2620-461A>T	coding	Benign
3	155500799	C	T	C155500799T	PLCH1	NM_014996.4(PLCH1):c.1705-5G>A	noncoding	Benign
3	155828291	A	G	A155828291G	SLC33A1	NM_004733.4(SLC33A1):c.1569T>C:p.Gly523=	coding	Benign
3	155829681	T	C	T155829681C	SLC33A1	NM_004733.4(SLC33A1):c.1482+7A>G	noncoding	Benign
3	155829904	C	T	C155829904T	SLC33A1	NM_004733.4(SLC33A1):c.1267-1G>A	coding	Pathogenic
3	155833907	G	C	G155833907C	SLC33A1	NM_004733.4(SLC33A1):c.1098C>G:p.Tyr366Ter	coding	Pathogenic
3	155842548	C	T	C155842548T	SLC33A1	NM_004733.4(SLC33A1):c.847G>A:p.Glu283Lys	coding	Benign
3	155853248	T	C	T155853248C	SLC33A1	NM_004733.4(SLC33A1):c.750A>G:p.Gln250=	coding	Benign/Likely_benign
3	155853486	T	C	T155853486C	SLC33A1	NM_004733.4(SLC33A1):c.512A>G:p.Asp171Gly	coding	Benign
3	155853659	A	C	A155853659C	SLC33A1	NM_004733.4(SLC33A1):c.339T>G:p.Ser113Arg	coding	Pathogenic
3	155853670	C	G	C155853670G	SLC33A1	NM_004733.4(SLC33A1):c.328G>C:p.Ala110Pro	coding	Pathogenic
3	155853671	T	C	T155853671C	SLC33A1	NM_004733.4(SLC33A1):c.327A>G:p.Gln109=	coding	Benign
3	155853710	T	G	T155853710G	SLC33A1	NM_004733.4(SLC33A1):c.288A>C:p.Pro96=	coding	Benign
3	155853862	C	T	C155853862T	SLC33A1	NM_004733.4(SLC33A1):c.136G>A:p.Glu46Lys	coding	Benign/Likely_benign
3	155870906	G	T	G155870906T	GMPS	NM_003875.3(GMPS):c.27+9G>T	noncoding	Benign
3	155893704	A	G	A155893704G	GMPS	NM_003875.3(GMPS):c.209+5A>G	noncoding	Benign
3	155910873	G	A	G155910873A	GMPS	NM_003875.3(GMPS):c.708G>A:p.Thr236=	coding	Benign
3	155914549	C	T	C155914549T	GMPS	NM_003875.3(GMPS):c.1017C>T:p.Ile339=	coding	Benign
3	155931787	A	C	A155931787C	GMPS	NM_003875.3(GMPS):c.1583A>C:p.Tyr528Ser	coding	Benign
3	155935018	T	C	T155935018C	GMPS	NM_003875.3(GMPS):c.1779T>C:p.Phe593=	coding	Benign
3	156120696	G	C	G156120696C	KCNAB1	NM_172160.2(KCNAB1):c.85G>C:p.Ala29Pro	coding	Benign
3	156120699	G	C	G156120699C	KCNAB1	NM_172160.2(KCNAB1):c.88G>C:p.Gly30Arg	coding	Benign
3	156120848	C	T	C156120848T	KCNAB1	NM_172160.2(KCNAB1):c.237C>T:p.Ser79=	coding	Benign
3	156516319	A	G	A156516319G	KCNAB1	NM_172160.2(KCNAB1):c.915A>G:p.Gly305=	coding	Benign
3	156544421	A	G	A156544421G	SSR3	NM_001308197.1(SSR3):c.417T>C:p.Asn139=	coding	Benign
3	156694015	T	C	T156694015C	TIPARP	NM_015508.5(TIPARP):c.918-5T>C	noncoding	Benign
3	156704724	A	C	A156704724C	TIPARP	NM_015508.5(TIPARP):c.1567A>C:p.Arg523=	coding	Benign
3	157436979	T	C	T157436979C	PTX3	NM_002852.4(PTX3):c.46T>C:p.Leu16=	coding	Benign
3	157437050	T	G	T157437050G	PTX3	NM_002852.4(PTX3):c.117T>G:p.His39Gln	coding	Benign
3	157437882	A	G	A157437882G	PTX3	NM_002852.4(PTX3):c.500A>G:p.Gln167Arg	coding	Benign
3	157442628	A	T	A157442628T	PTX3	NM_002852.4(PTX3):c.795A>T:p.Gly265=	coding	Benign
3	157442912	G	A	G157442912A	PTX3	NM_002852.4(PTX3):c.1079G>A:p.Arg360Gln	coding	Benign
3	158099932	G	A	G158099932A	SHOX2	NM_001163678.2(SHOX2):c.630C>T:p.Ala210=	coding	Benign
3	158122299	G	A	G158122299A	RSRC1	NM_001271838.2(RSRC1):c.194+1G>A	coding	Pathogenic
3	158123876	C	T	C158123876T	RSRC1	NM_001271838.2(RSRC1):c.205C>T:p.Arg69Ter	coding	Pathogenic
3	158123939	C	T	C158123939T	RSRC1	NM_001271838.2(RSRC1):c.268C>T:p.Arg90Ter	coding	Pathogenic
3	158596900	G	A	G158596900A	MLF1	NM_022443.5(MLF1):c.234G>A:p.Met78Ile	coding	Benign
3	158600032	G	A	G158600032A	MLF1	NM_001369783.1(MLF1):c.472G>A:p.Ala158Thr	coding	Benign
3	158600160	C	T	C158600160T	MLF1	NM_022443.5(MLF1):c.555C>T:p.Ile185=	coding	Benign
3	158605145	T	A	T158605145A	MLF1	NM_022443.5(MLF1):c.750T>A:p.Asn250Lys	coding	Benign
3	158644249	G	T	G158644249T	GFM1	NM_024996.5(GFM1):c.-386G>T	noncoding	Benign
3	158644602	C	T	C158644602T	GFM1	NM_024996.5(GFM1):c.-33C>T	noncoding	Benign
3	158644604	A	G	A158644604G	GFM1	NM_024996.5(GFM1):c.-31A>G	noncoding	Benign
3	158644624	C	T	C158644624T	GFM1	NM_024996.5(GFM1):c.-11C>T	noncoding	Benign
3	158644637	G	A	G158644637A	GFM1	NM_024996.5(GFM1):c.3G>A:p.Met1Ile	coding	Pathogenic
3	158644652	T	C	T158644652C	GFM1	NM_024996.5(GFM1):c.18T>C:p.Ala6=	coding	Benign
3	158644711	A	G	A158644711G	GFM1	NM_024996.5(GFM1):c.77A>G:p.Lys26Arg	coding	Benign
3	158645647	C	T	C158645647T	GFM1	NM_024996.7(GFM1):c.100C>T:p.Arg34Ter	coding	Pathogenic
3	158645674	A	G	A158645674G	GFM1	NM_024996.5(GFM1):c.127A>G:p.Asn43Asp	coding	Benign/Likely_benign
3	158645686	C	T	C158645686T	GFM1	NM_024996.5(GFM1):c.139C>T:p.Arg47Ter	coding	Pathogenic
3	158645740	C	T	C158645740T	GFM1	NM_024996.5(GFM1):c.193C>T:p.Arg65Ter	coding	Pathogenic
3	158646178	A	T	A158646178T	GFM1	NM_024996.7(GFM1):c.248A>T:p.Asp83Val	coding	Pathogenic
3	158646254	C	A	C158646254A	GFM1	NM_024996.7(GFM1):c.324C>A:p.Tyr108Ter	coding	Pathogenic
3	158646520	C	T	C158646520T	GFM1	NM_024996.5(GFM1):c.367+223C>T	noncoding	Benign
3	158646725	A	G	A158646725G	GFM1	NM_024996.5(GFM1):c.368-18A>G	noncoding	Benign
3	158646851	A	G	A158646851G	GFM1	NM_024996.5(GFM1):c.476A>G:p.Asn159Ser	coding	Benign
3	158646943	A	C	A158646943C	GFM1	NM_024996.5(GFM1):c.568A>C:p.Met190Leu	coding	Benign/Likely_benign
3	158649111	G	A	G158649111A	GFM1	NM_024996.5(GFM1):c.643G>A:p.Val215Ile	coding	Benign
3	158649129	C	T	C158649129T	GFM1	NM_024996.7(GFM1):c.661C>T:p.Arg221Ter	coding	Pathogenic
3	158649156	G	A	G158649156A	GFM1	NM_024996.5(GFM1):c.688G>A:p.Gly230Ser	coding	Pathogenic
3	158649768	A	G	A158649768G	GFM1	NM_024996.5(GFM1):c.689+611A>G	noncoding	Benign
3	158652106	C	T	C158652106T	GFM1	NM_024996.5(GFM1):c.700C>T:p.Arg234Ter	coding	Pathogenic
3	158652154	C	T	C158652154T	GFM1	NM_024996.5(GFM1):c.748C>T:p.Arg250Trp	coding	Pathogenic/Likely_pathogenic
3	158652194	A	G	A158652194G	GFM1	NM_024996.7(GFM1):c.788A>G:p.Gln263Arg	coding	Benign
3	158653427	C	G	C158653427G	GFM1	NM_024996.7(GFM1):c.958C>G:p.Pro320Ala	coding	Pathogenic
3	158653429	A	C	A158653429C	GFM1	NM_024996.5(GFM1):c.960A>C:p.Pro320=	coding	Benign/Likely_benign
3	158653617	G	A	G158653617A	GFM1	NM_024996.5(GFM1):c.998+150G>A	noncoding	Benign
3	158654637	T	G	T158654637G	GFM1	NM_024996.5(GFM1):c.1083+6T>G	noncoding	Benign
3	158659047	C	T	C158659047T	GFM1	NM_024996.5(GFM1):c.1209C>T:p.Ala403=	coding	Benign
3	158661058	A	G	A158661058G	GFM1	NM_024996.5(GFM1):c.1323+83A>G	noncoding	Benign
3	158665443	T	G	T158665443G	GFM1	NM_024996.5(GFM1):c.1487T>G:p.Met496Arg	coding	Pathogenic
3	158666093	T	C	T158666093C	GFM1	NM_024996.5(GFM1):c.1519-211T>C	noncoding	Benign
3	158666331	T	C	T158666331C	GFM1	NM_024996.7(GFM1):c.1546T>C:p.Cys516Arg	coding	Pathogenic
3	158666356	C	T	C158666356T	GFM1	NM_024996.7(GFM1):c.1571C>T:p.Ala524Val	coding	Pathogenic
3	158666378	C	T	C158666378T	GFM1	NM_024996.5(GFM1):c.1593C>T:p.Ala531=	coding	Benign/Likely_benign
3	158666395	G	C	G158666395C	GFM1	NM_024996.5(GFM1):c.1601+9G>C	noncoding	Benign
3	158666424	A	G	A158666424G	GFM1	NM_020169.4(LXN):c.*222T>C	coding	Benign
3	158669002	C	T	C158669002T	LXN	NM_020169.4(LXN):c.501G>A:p.Lys167=	coding	Benign
3	158669097	C	T	C158669097T	LXN	NM_020169.4(LXN):c.406G>A:p.Val136Ile	coding	Benign
3	158671006	C	T	C158671006T	LXN	NM_020169.4(LXN):c.143G>A:p.Arg48Lys	coding	Benign
3	158672441	G	A	G158672441A	LXN	NM_020169.4(LXN):c.38C>T:p.Ala13Val	coding	Benign
3	158690175	C	A	C158690175A	GFM1	NM_024996.7(GFM1):c.1922C>A:p.Ala641Glu	coding	Pathogenic
3	158690243	G	A	G158690243A	GFM1	NM_024996.5(GFM1):c.1990G>A:p.Val664Ile	coding	Benign/Likely_benign
3	158690261	C	T	C158690261T	GFM1	NM_024996.7(GFM1):c.2008C>T:p.Arg670Ter	coding	Pathogenic
3	158690264	C	T	C158690264T	GFM1	NM_024996.5(GFM1):c.2011C>T:p.Arg671Cys	coding	Pathogenic/Likely_pathogenic
3	158690269	T	C	T158690269C	GFM1	NM_024996.7(GFM1):c.2016T>C:p.His672=	coding	Benign
3	158690312	C	T	C158690312T	GFM1	NM_024996.5(GFM1):c.2059C>T:p.Leu687=	coding	Benign/Likely_benign
3	158691122	A	G	A158691122G	GFM1	NM_024996.5(GFM1):c.2071-17A>G	noncoding	Benign
3	158691473	C	T	C158691473T	GFM1	NM_024996.5(GFM1):c.*6C>T	noncoding	Benign
3	158691693	C	T	C158691693T	GFM1	NM_024996.5(GFM1):c.*226C>T	noncoding	Benign
3	158692158	T	A	T158692158A	GFM1	NM_024996.5(GFM1):c.*691T>A	noncoding	Benign
3	158692180	C	T	C158692180T	GFM1	NM_024996.5(GFM1):c.*713C>T	noncoding	Benign
3	158692198	C	T	C158692198T	GFM1	NM_024996.5(GFM1):c.*731C>T	noncoding	Benign
3	158692233	G	T	G158692233T	GFM1	NM_024996.5(GFM1):c.*766G>T	noncoding	Benign
3	159993805	A	G	A159993805G	IL12A	NM_000882.4(IL12A):c.567A>G:p.Leu189=	coding	Benign
3	159995428	G	A	G159995428A	IL12A	NM_000882.4(IL12A):c.631G>A:p.Val211Met	coding	Benign
3	159995457	G	A	G159995457A	IL12A	NM_000882.4(IL12A):c.660G>A:p.Pro220=	coding	Benign
3	160257321	C	T	C160257321T	IFT80	NM_020800.3(IFT80):c.*1204G>A	noncoding	Benign
3	160258483	C	T	C160258483T	IFT80	NM_020800.3(IFT80):c.*42G>A	noncoding	Benign
3	160268497	A	G	A160268497G	IFT80	NM_020800.3(IFT80):c.2139T>C:p.Asp713=	coding	Benign
3	160268535	C	G	C160268535G	IFT80	NM_020800.3(IFT80):c.2101G>C:p.Ala701Pro	coding	Pathogenic
3	160277357	C	A	C160277357A	IFT80	NM_020800.3(IFT80):c.2048G>T:p.Gly683Val	coding	Pathogenic
3	160277568	A	G	A160277568G	IFT80	NM_020800.3(IFT80):c.1926+13T>C	noncoding	Benign
3	160277643	C	T	C160277643T	IFT80	NM_020800.3(IFT80):c.1864G>A:p.Ala622Thr	coding	Benign/Likely_benign
3	160279273	T	A	T160279273A	IFT80	NM_020800.3(IFT80):c.1756A>T:p.Thr586Ser	coding	Benign
3	160280770	G	A	G160280770A	IFT80	NM_020800.3(IFT80):c.1561C>T:p.Leu521Phe	coding	Pathogenic
3	160307654	G	C	G160307654C	IFT80	NM_020800.3(IFT80):c.1076+9C>G	noncoding	Benign
3	160307663	G	A	G160307663A	IFT80	NM_020800.3(IFT80):c.1076C>T:p.Ser359Phe	coding	Benign
3	160319780	T	C	T160319780C	IFT80	NM_020800.3(IFT80):c.937A>G:p.Thr313Ala	coding	Benign
3	160319784	T	C	T160319784C	IFT80	NM_020800.3(IFT80):c.933A>G:p.Thr311=	coding	Benign
3	160356069	C	T	C160356069T	IFT80	NM_020800.3(IFT80):c.721G>A:p.Gly241Arg	coding	Pathogenic
3	160357556	A	T	A160357556T	IFT80	NM_020800.3(IFT80):c.572T>A:p.Ile191Asn	coding	Pathogenic
3	160366130	C	T	C160366130T	IFT80	NM_020800.3(IFT80):c.462G>A:p.Ala154=	coding	Benign
3	160375890	G	T	G160375890T	IFT80	NM_020800.3(IFT80):c.371-10C>A	noncoding	Benign/Likely_benign
3	160377485	G	C	G160377485C	IFT80	NM_020800.3(IFT80):c.315C>G:p.His105Gln	coding	Pathogenic
3	160377518	C	T	C160377518T	IFT80	NM_020800.3(IFT80):c.282G>A:p.Lys94=	coding	Benign/Likely_benign
3	160384640	G	A	G160384640A	IFT80	NM_020800.3(IFT80):c.-40C>T	noncoding	Benign
3	160426155	A	G	A160426155G	SMC4	NM_001002800.3(SMC4):c.2560A>G:p.Lys854Glu	coding	Benign
3	160527944	T	A	T160527944A	KPNA4	NM_002268.5(KPNA4):c.556+9A>T	noncoding	Benign
3	164978936	C	T	C164978936T	SI	NM_001041.4(SI):c.*426G>A	noncoding	Benign
3	164979164	C	A	C164979164A	SI	NM_001041.4(SI):c.*198G>T	noncoding	Benign
3	164979294	A	G	A164979294G	SI	NM_001041.4(SI):c.*68T>C	noncoding	Benign
3	164982253	G	C	G164982253C	SI	NM_001041.4(SI):c.5405C>G:p.Thr1802Ser	coding	Benign
3	164987130	G	A	G164987130A	SI	NM_001041.4(SI):c.5197+8C>T	noncoding	Benign
3	164992401	G	A	G164992401A	SI	NM_001041.4(SI):c.4842-4C>T	noncoding	Benign
3	164994319	A	G	A164994319G	SI	NM_001041.4(SI):c.4779T>C:p.Phe1593=	coding	Benign
3	164994377	G	C	G164994377C	SI	NM_001041.4(SI):c.4721C>G:p.Thr1574Ser	coding	Benign
3	164996744	C	T	C164996744T	SI	NM_001041.4(SI):c.4569G>A:p.Met1523Ile	coding	Benign
3	165017621	C	T	C165017621T	SI	NM_001041.4(SI):c.3686G>A:p.Cys1229Tyr	coding	Pathogenic
3	165019655	G	A	G165019655A	SI	NM_001041.4(SI):c.3370C>T:p.Arg1124Ter	coding	Pathogenic/Likely_pathogenic
3	165019732	T	G	T165019732G	SI	NM_001041.4(SI):c.3293A>C:p.Gln1098Pro	coding	Pathogenic
3	165046869	A	G	A165046869G	SI	NM_001041.4(SI):c.1859T>C:p.Leu620Pro	coding	Pathogenic
3	165046931	C	A	C165046931A	SI	NM_001041.4(SI):c.1797G>T:p.Ala599=	coding	Benign
3	165046998	A	C	A165046998C	SI	NM_001041.4(SI):c.1730T>G:p.Val577Gly	coding	Pathogenic/Likely_pathogenic
3	165055269	G	A	G165055269A	SI	NM_001041.4(SI):c.1437C>T:p.Asn479=	coding	Benign
3	165059889	T	G	T165059889G	SI	NM_001041.4(SI):c.1146+13A>C	noncoding	Benign
3	165059893	T	C	T165059893C	SI	NM_001041.4(SI):c.1146+9A>G	noncoding	Benign
3	165060026	A	G	A165060026G	SI	NM_001041.4(SI):c.1022T>C:p.Leu341Pro	coding	Pathogenic
3	165063496	C	A	C165063496A	SI	NM_001041.4(SI):c.853G>T:p.Glu285Ter	coding	Pathogenic
3	165065377	T	C	T165065377C	SI	NM_001041.4(SI):c.691A>G:p.Thr231Ala	coding	Benign
3	165067377	T	C	T165067377C	SI	NM_001041.4(SI):c.598A>G:p.Ser200Gly	coding	Benign/Likely_benign
3	165067408	C	T	C165067408T	SI	NM_001041.4(SI):c.567G>A:p.Leu189=	coding	Benign
3	165067458	G	C	G165067458C	SI	NM_001041.4(SI):c.517C>G:p.Pro173Ala	coding	Benign/Likely_benign
3	165068718	G	A	G165068718A	SI	NM_001041.4(SI):c.483+4C>T	noncoding	Benign/Likely_benign
3	165069101	T	C	T165069101C	SI	NM_001041.4(SI):c.350A>G:p.Gln117Arg	coding	Pathogenic
3	165075970	C	A	C165075970A	SI	NM_001041.4(SI):c.43G>T:p.Val15Phe	coding	Benign
3	165188155	A	G	A165188155G	SLITRK3	NM_001318810.2(SLITRK3):c.2676T>C:p.Pro892=	coding	Benign
3	165189015	C	A	C165189015A	SLITRK3	NM_001318810.2(SLITRK3):c.1816G>T:p.Glu606Ter	coding	Pathogenic
3	165773193	C	T	C165773193T	BCHE	NM_000055.4(BCHE):c.*189G>A	noncoding	Benign
3	165773492	C	T	C165773492T	BCHE	NM_000055.2(BCHE):c.1699G>A:p.Ala567Thr	coding	Benign
3	165786142	C	T	C165786142T	BCHE	NM_000055.4(BCHE):c.1684+3G>A	noncoding	Benign
3	165786255	T	A	T165786255A	BCHE	NM_000055.4(BCHE):c.1574A>T:p.Glu525Val	coding	Pathogenic
3	165830526	C	T	C165830526T	BCHE	NM_000055.4(BCHE):c.508G>A:p.Val170Met	coding	Pathogenic
3	165830567	T	C	T165830567C	BCHE	NM_000055.4(BCHE):c.467A>G:p.Tyr156Cys	coding	Pathogenic
3	165830606	C	T	C165830606T	BCHE	NM_000055.4(BCHE):c.428G>A:p.Gly143Asp	coding	Pathogenic/Likely_pathogenic
3	165830741	T	C	T165830741C	BCHE	NM_000055.2(BCHE):c.293A>G:p.Asp98Gly	coding	Pathogenic/Likely_pathogenic
3	165837337	C	T	C165837337T	BCHE	NM_000055.4(BCHE):c.-32G>A	noncoding	Benign
3	167317503	C	T	C167317503T	ZBBX	NM_001199201.1(ZBBX):c.1078G>A:p.Asp360Asn	coding	Benign
3	167317566	G	A	G167317566A	ZBBX	NM_001199201.1(ZBBX):c.1015C>T:p.Pro339Ser	coding	Benign
3	167327953	G	A	G167327953A	ZBBX	NM_001199201.1(ZBBX):c.851C>T:p.Ala284Val	coding	Benign
3	167684361	G	A	G167684361A	PDCD10	NM_007217.4(PDCD10):c.586C>T:p.Arg196Ter	coding	Pathogenic
3	167687281	G	C	G167687281C	PDCD10	NM_007217.4(PDCD10):c.510C>G:p.Tyr170Ter	coding	Pathogenic/Likely_pathogenic
3	167687317	C	T	C167687317T	PDCD10	NM_007217.4(PDCD10):c.475-1G>A	coding	Pathogenic
3	167687606	T	C	T167687606C	PDCD10	NM_007217.4(PDCD10):c.474+9A>G	noncoding	Benign
3	167687610	C	T	C167687610T	PDCD10	NM_007217.4(PDCD10):c.474+5G>A	noncoding	Pathogenic/Likely_pathogenic
3	167687671	C	A	C167687671A	PDCD10	NM_007217.4(PDCD10):c.418G>T:p.Glu140Ter	coding	Pathogenic
3	167687696	G	C	G167687696C	PDCD10	NM_007217.4(PDCD10):c.396-3C>G	noncoding	Pathogenic
3	167695597	T	A	T167695597A	PDCD10	NM_007217.4(PDCD10):c.394A>T:p.Lys132Ter	coding	Pathogenic
3	167695606	G	A	G167695606A	PDCD10	NM_007217.4(PDCD10):c.385C>T:p.Gln129Ter	coding	Pathogenic
3	167695669	G	A	G167695669A	PDCD10	NM_007217.4(PDCD10):c.322C>T:p.Arg108Ter	coding	Pathogenic
3	167695690	G	A	G167695690A	PDCD10	NM_007217.4(PDCD10):c.301C>T:p.Gln101Ter	coding	Pathogenic
3	167695708	G	A	G167695708A	PDCD10	NM_007217.4(PDCD10):c.283C>T:p.Arg95Ter	coding	Pathogenic
3	167697008	C	T	C167697008T	PDCD10	NM_007217.4(PDCD10):c.268+1G>A	noncoding	Pathogenic
3	167697063	C	G	C167697063G	PDCD10	NM_007217.4(PDCD10):c.214G>C:p.Val72Leu	coding	Benign
3	167697099	G	A	G167697099A	PDCD10	NM_007217.4(PDCD10):c.178C>T:p.Gln60Ter	coding	Pathogenic
3	167704889	G	A	G167704889A	PDCD10	NM_007217.4(PDCD10):c.103C>T:p.Arg35Ter	coding	Pathogenic
3	167720282	A	G	A167720282G	PDCD10	NM_007217.4(PDCD10):c.-116-9T>C	noncoding	Benign
3	167734716	A	G	A167734716G	PDCD10	NM_007217.4(PDCD10):c.-308T>C	noncoding	Benign
3	167735915	G	A	G167735915A	SERPINI1;PDCD10	NM_005025.4(SERPINI1):c.-239G>A	noncoding	Benign
3	167789149	C	G	C167789149G	SERPINI1	NM_005025.4(SERPINI1):c.21C>G:p.Phe7Leu	coding	Benign
3	167789168	A	G	A167789168G	SERPINI1	NM_005025.4(SERPINI1):c.40A>G:p.Ser14Gly	coding	Benign
3	167789179	A	G	A167789179G	SERPINI1	NM_005025.4(SERPINI1):c.51A>G:p.Thr17=	coding	Benign
3	167789205	T	C	T167789205C	SERPINI1	NM_005025.4(SERPINI1):c.77T>C:p.Ile26Thr	coding	Benign
3	167789234	C	A	C167789234A	SERPINI1	NM_005025.4(SERPINI1):c.106C>A:p.Arg36Ser	coding	Benign/Likely_benign
3	167789273	T	C	T167789273C	SERPINI1	NM_005025.4(SERPINI1):c.145T>C:p.Ser49Pro	coding	Pathogenic
3	167789282	A	C	A167789282C	SERPINI1	NM_005025.4(SERPINI1):c.154A>C:p.Ser52Arg	coding	Pathogenic
3	167789336	A	G	A167789336G	SERPINI1	NM_005025.4(SERPINI1):c.208A>G:p.Lys70Glu	coding	Benign/Likely_benign
3	167789346	G	A	G167789346A	SERPINI1	NM_005025.4(SERPINI1):c.218G>A:p.Arg73His	coding	Benign
3	167789391	A	G	A167789391G	SERPINI1	NM_001122752.2(SERPINI1):c.250+13A>G	noncoding	Benign
3	167790410	G	A	G167790410A	SERPINI1	NM_005025.4(SERPINI1):c.289G>A:p.Val97Ile	coding	Benign/Likely_benign
3	167790418	T	G	T167790418G	SERPINI1	NM_005025.4(SERPINI1):c.297T>G:p.Ala99=	coding	Benign
3	167790525	C	T	C167790525T	SERPINI1	NM_005025.4(SERPINI1):c.404C>T:p.Ala135Val	coding	Benign/Likely_benign
3	167790553	T	C	T167790553C	SERPINI1	NM_005025.4(SERPINI1):c.432T>C:p.Asn144=	coding	Benign
3	167792626	A	G	A167792626G	SERPINI1	NM_005025.4(SERPINI1):c.518A>G:p.Asp173Gly	coding	Benign/Likely_benign
3	167792684	G	A	G167792684A	SERPINI1	NM_005025.4(SERPINI1):c.576G>A:p.Ser192=	coding	Benign
3	167794781	G	A	G167794781A	SERPINI1	NM_005025.4(SERPINI1):c.838G>A:p.Ala280Thr	coding	Benign
3	167794834	T	G	T167794834G	SERPINI1	NM_005025.4(SERPINI1):c.881+10T>G	noncoding	Benign
3	167823019	A	G	A167823019G	SERPINI1	NM_005025.4(SERPINI1):c.1013A>G:p.His338Arg	coding	Pathogenic
3	167825264	G	A	G167825264A	SERPINI1	NM_005025.4(SERPINI1):c.1174G>A:p.Gly392Arg	coding	Pathogenic
3	167825265	G	A	G167825265A	SERPINI1	NM_005025.4(SERPINI1):c.1175G>A:p.Gly392Glu	coding	Pathogenic
3	167825273	A	G	A167825273G	SERPINI1	NM_005025.4(SERPINI1):c.1183A>G:p.Met395Val	coding	Benign/Likely_benign
3	168027842	C	A	C168027842A	GOLIM4	NM_014498.5(GOLIM4):c.1514-5G>T	noncoding	Benign
3	168029855	T	C	T168029855C	GOLIM4	NM_014498.5(GOLIM4):c.1358A>G:p.Gln453Arg	coding	Benign
3	168030041	G	A	G168030041A	GOLIM4	NM_014498.5(GOLIM4):c.1177-5C>T	noncoding	Benign
3	169084993	T	G	T169084993G	MECOM	NM_004991.4(MECOM):c.3636A>C:p.Thr1212=	coding	Benign
3	169093016	G	A	G169093016A	MECOM	NM_004991.4(MECOM):c.3106C>T:p.Arg1036Ter	coding	Pathogenic
3	169095083	G	A	G169095083A	MECOM	NM_004991.4(MECOM):c.3012C>T:p.Asn1004=	coding	Benign
3	169100904	T	C	T169100904C	MECOM	NM_004991.4(MECOM):c.2830A>G:p.Thr944Ala	coding	Pathogenic
3	169100918	T	C	T169100918C	MECOM	NM_004991.4(MECOM):c.2816A>G:p.His939Arg	coding	Pathogenic
3	169102051	T	C	T169102051C	MECOM	NM_004991.4(MECOM):c.2771+9A>G	noncoding	Benign
3	169115610	C	G	C169115610G	MECOM	NM_004991.4(MECOM):c.2262G>C:p.Leu754Phe	coding	Benign
3	169116165	G	T	G169116165T	MECOM	NM_004991.4(MECOM):c.1707C>A:p.Pro569=	coding	Benign
3	169127852	A	G	A169127852G	MECOM	NM_004991.4(MECOM):c.822T>C:p.Asp274=	coding	Benign/Likely_benign
3	169127918	G	A	G169127918A	MECOM	NM_004991.4(MECOM):c.756C>T:p.Ser252=	coding	Benign
3	169128065	G	C	G169128065C	MECOM	NM_004991.4(MECOM):c.614-5C>G	noncoding	Benign
3	169764547	T	C	T169764547C	TERC	NR_001566.1(TERC):n.514A>G	noncoding	Benign
3	169764651	G	C	G169764651C	TERC	NR_001566.1(TERC):n.410C>G	noncoding	Pathogenic
3	169764653	G	C	G169764653C	TERC	NR_001566.1(TERC):n.408C>G	noncoding	Pathogenic
3	169764738	G	A	G169764738A	TERC	NR_001566.1(TERC):n.323C>T	noncoding	Pathogenic
3	169764739	C	T	C169764739T	TERC	NR_001566.1(TERC):n.322G>A	noncoding	Pathogenic
3	169764756	C	T	C169764756T	TERC	NR_001566.1(TERC):n.305G>A	noncoding	Pathogenic
3	169764833	C	T	C169764833T	TERC	NR_001566.1(TERC):n.228G>A	noncoding	Benign/Likely_benign
3	169764857	G	C	G169764857C	TERC	NR_001566.1(TERC):n.204C>G	noncoding	Pathogenic
3	169764881	G	A	G169764881A	TERC	NR_001566.1(TERC):n.180C>T	noncoding	Pathogenic
3	169764883	C	T	C169764883T	TERC	NR_001566.1(TERC):n.178G>A	noncoding	Pathogenic
3	169764918	C	T	C169764918T	TERC	NR_001566.1(TERC):n.143G>A	noncoding	Pathogenic
3	169764944	T	G	T169764944G	TERC	NR_001566.1(TERC):n.117A>C	noncoding	Pathogenic
3	169764945	G	A	G169764945A	TERC	NR_001566.1(TERC):n.116C>T	noncoding	Pathogenic
3	169764954	C	A	C169764954A	TERC	NR_001566.1(TERC):n.107G>T	noncoding	Pathogenic
3	169764961	A	T	A169764961T	TERC	NR_001566.1(TERC):n.100T>A	noncoding	Pathogenic
3	169764963	C	T	C169764963T	TERC	NR_001566.1(TERC):n.98G>A	noncoding	Pathogenic
3	169764989	G	C	G169764989C	TERC	NR_001566.1(TERC):n.72C>G	noncoding	Pathogenic
3	169765003	C	T	C169765003T	TERC	NR_001566.1(TERC):n.58G>A	noncoding	Benign
3	169765013	T	C	T169765013C	TERC;LOC110806306	NR_001566.1(TERC):n.48A>G	noncoding	Pathogenic
3	169765026	G	A	G169765026A	TERC	NR_001566.1(TERC):n.35C>T	noncoding	Pathogenic
3	169765059	C	G	C169765059G	TERC;LOC110806306	NR_001566.1(TERC):n.2G>C	noncoding	Pathogenic
3	169765160	G	C	G169765160C	LOC110806306	NR_001566.1(TERC):n.-100C>G	noncoding	Pathogenic
3	169975646	C	G	C169975646G	SEC62	NM_003262.4(SEC62):c.75C>G:p.Ala25=	coding	Benign
3	169982737	C	G	C169982737G	SEC62	NM_003262.4(SEC62):c.282C>G:p.Ala94=	coding	Benign
3	170361039	A	G	A170361039G	SKIL	NM_005414.5(SKIL):c.708A>G:p.Pro236=	coding	Benign
3	170392359	T	A	T170392359A	SKIL	NM_005414.5(SKIL):c.1997T>A:p.Met666Lys	coding	Benign
3	170467094	G	A	G170467094A	SLC7A14	NM_020949.3(SLC7A14):c.2277C>T:p.Ala759=	coding	Benign
3	170467145	C	T	C170467145T	SLC7A14	NM_020949.3(SLC7A14):c.2226G>A:p.Arg742=	coding	Benign
3	170467207	C	T	C170467207T	SLC7A14	NM_020949.3(SLC7A14):c.2164G>A:p.Gly722Arg	coding	Benign
3	170467249	A	C	A170467249C	SLC7A14	NM_020949.3(SLC7A14):c.2122T>G:p.Phe708Val	coding	Pathogenic
3	170480353	G	A	G170480353A	SLC7A14	NM_020949.3(SLC7A14):c.1929C>T:p.Asn643=	coding	Benign
3	170480392	A	C	A170480392C	SLC7A14	NM_020949.3(SLC7A14):c.1890T>G:p.Pro630=	coding	Benign
3	170480749	G	A	G170480749A	SLC7A14	NM_020949.3(SLC7A14):c.1533C>T:p.Tyr511=	coding	Benign
3	170480891	C	A	C170480891A	SLC7A14	NM_020949.3(SLC7A14):c.1391G>T:p.Cys464Phe	coding	Benign
3	170481153	C	T	C170481153T	SLC7A14	NM_020949.3(SLC7A14):c.1129G>A:p.Val377Ile	coding	Benign
3	170483346	A	T	A170483346T	SLC7A14	NM_020949.3(SLC7A14):c.1083T>A:p.Ile361=	coding	Benign
3	170483441	C	T	C170483441T	SLC7A14	NM_020949.3(SLC7A14):c.988G>A:p.Gly330Arg	coding	Benign
3	170486273	G	A	G170486273A	SLC7A14	NM_020949.3(SLC7A14):c.855C>T:p.Ile285=	coding	Benign
3	170486333	G	A	G170486333A	SLC7A14	NM_020949.3(SLC7A14):c.795C>T:p.Phe265=	coding	Benign
3	170501255	G	A	G170501255A	SLC7A14	NM_020949.3(SLC7A14):c.395C>T:p.Ala132Val	coding	Pathogenic
3	170996554	G	A	G170996554A	SLC2A2	NM_000340.2(SLC2A2):c.*1349C>T	noncoding	Benign
3	170996646	G	A	G170996646A	SLC2A2	NM_000340.2(SLC2A2):c.*1257C>T	noncoding	Benign
3	170996681	A	T	A170996681T	SLC2A2	NM_000340.2(SLC2A2):c.*1222T>A	noncoding	Benign
3	170996983	T	G	T170996983G	SLC2A2	NM_000340.2(SLC2A2):c.*920A>C	noncoding	Benign
3	170996994	G	A	G170996994A	SLC2A2	NM_000340.2(SLC2A2):c.*909C>T	noncoding	Benign
3	170997178	C	G	C170997178G	SLC2A2	NM_000340.2(SLC2A2):c.*725G>C	noncoding	Benign
3	170997427	A	G	A170997427G	SLC2A2	NM_000340.2(SLC2A2):c.*476T>C	noncoding	Benign
3	170997429	T	C	T170997429C	SLC2A2	NM_000340.2(SLC2A2):c.*474A>G	noncoding	Benign
3	170997547	T	A	T170997547A	SLC2A2	NM_000340.2(SLC2A2):c.*356A>T	noncoding	Benign
3	170997578	A	T	A170997578T	SLC2A2	NM_000340.2(SLC2A2):c.*325T>A	noncoding	Benign
3	170997669	G	T	G170997669T	SLC2A2	NM_000340.2(SLC2A2):c.*234C>A	noncoding	Benign
3	170997922	C	T	C170997922T	SLC2A2	NM_000340.2(SLC2A2):c.1556G>A:p.Gly519Glu	coding	Benign
3	170998041	G	A	G170998041A	SLC2A2	NM_000340.2(SLC2A2):c.1437C>T:p.Phe479=	coding	Benign
3	170998076	G	C	G170998076C	SLC2A2	NM_000340.2(SLC2A2):c.1402C>G:p.Leu468Val	coding	Benign
3	170998299	A	T	A170998299T	SLC2A2	NM_000340.2(SLC2A2):c.1268T>A:p.Val423Glu	coding	Pathogenic
3	170998308	C	T	C170998308T	SLC2A2	NM_000340.2(SLC2A2):c.1259G>A:p.Trp420Ter	coding	Pathogenic
3	170999069	A	G	A170999069G	SLC2A2	NM_000340.2(SLC2A2):c.1166T>C:p.Leu389Pro	coding	Pathogenic
3	170999142	G	A	G170999142A	SLC2A2	NM_000340.2(SLC2A2):c.1093C>T:p.Arg365Ter	coding	Pathogenic
3	170999175	A	G	A170999175G	SLC2A2	NM_000340.2(SLC2A2):c.1069-9T>C	noncoding	Benign
3	171005284	C	T	C171005284T	SLC2A2	NM_000340.2(SLC2A2):c.963+1G>A	noncoding	Pathogenic
3	171005347	G	A	G171005347A	SLC2A2	NM_000340.2(SLC2A2):c.901C>T:p.Arg301Ter	coding	Pathogenic
3	171005389	G	A	G171005389A	SLC2A2	NM_000340.2(SLC2A2):c.859C>T:p.Gln287Ter	coding	Pathogenic
3	171005487	G	A	G171005487A	SLC2A2	NM_000340.2(SLC2A2):c.776-15C>T	noncoding	Benign
3	171005942	C	T	C171005942T	SLC2A2	NM_000340.2(SLC2A2):c.775+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	171006057	G	A	G171006057A	SLC2A2	NM_000340.2(SLC2A2):c.661C>T:p.Leu221=	coding	Benign/Likely_benign
3	171006093	C	A	C171006093A	SLC2A2	NM_000340.2(SLC2A2):c.625G>T:p.Glu209Ter	coding	Pathogenic
3	171006106	C	G	C171006106G	SLC2A2	NM_000340.2(SLC2A2):c.613-1G>C	coding	Pathogenic
3	171007166	C	T	C171007166T	SLC2A2	NM_000340.2(SLC2A2):c.594G>A:p.Thr198=	coding	Benign
3	171007265	T	C	T171007265C	SLC2A2	NM_000340.2(SLC2A2):c.497-2A>G	noncoding	Pathogenic
3	171009950	T	A	T171009950A	SLC2A2	NM_000340.2(SLC2A2):c.496+8A>T	noncoding	Benign
3	171014511	G	A	G171014511A	SLC2A2	NM_000340.2(SLC2A2):c.329C>T:p.Thr110Ile	coding	Benign
3	171014539	C	T	C171014539T	SLC2A2	NM_000340.2(SLC2A2):c.301G>A:p.Val101Ile	coding	Benign/Likely_benign
3	171014637	G	A	G171014637A	SLC2A2	NM_000340.2(SLC2A2):c.203C>T:p.Pro68Leu	coding	Benign/Likely_benign
3	171014733	T	C	T171014733C	SLC2A2	NM_000340.2(SLC2A2):c.109-2A>G	noncoding	Pathogenic
3	171071247	C	T	C171071247T	TNIK	NM_015028.4(TNIK):c.3525G>A:p.Pro1175=	coding	Benign
3	171071330	T	A	T171071330A	TNIK	NM_015028.4(TNIK):c.3449-7A>T	noncoding	Benign
3	171084312	G	A	G171084312A	TNIK	NM_015028.4(TNIK):c.3012C>T:p.Ser1004=	coding	Benign
3	171101481	C	T	C171101481T	TNIK	NM_015028.4(TNIK):c.2559G>A:p.Gly853=	coding	Benign
3	171175275	C	T	C171175275T	TNIK	NM_015028.4(TNIK):c.750G>A:p.Ala250=	coding	Benign
3	171188803	G	A	G171188803A	TNIK	NM_015028.4(TNIK):c.538C>T:p.Arg180Ter	coding	Pathogenic
3	171190797	T	C	T171190797C	TNIK	NM_015028.4(TNIK):c.418-10A>G	noncoding	Benign
3	171228192	T	C	T171228192C	TNIK	NM_015028.4(TNIK):c.153A>G:p.Ala51=	coding	Benign
3	171369610	A	G	A171369610G	TNIK	NM_015028.4(TNIK):c.123+10T>C	noncoding	Benign
3	171603219	T	C	T171603219C	PLD1	NM_002662.5(PLD1):c.3084A>G:p.Glu1028=	coding	Benign
3	171603233	C	T	C171603233T	PLD1	NM_002662.5(PLD1):c.3070G>A:p.Val1024Ile	coding	Benign
3	171612277	A	G	A171612277G	PLD1	NM_002662.5(PLD1):c.2882+2T>C	noncoding	Pathogenic
3	171645024	C	T	C171645024T	PLD1	NM_002662.5(PLD1):c.2430-1G>A	coding	Pathogenic
3	171662111	G	A	G171662111A	PLD1	NM_002662.5(PLD1):c.2289C>T:p.His763=	coding	Benign
3	171687441	A	G	A171687441G	PLD1	NM_002662.5(PLD1):c.1683T>C:p.Ser561=	coding	Benign
3	171687583	G	A	G171687583A	PLD1	NM_002662.5(PLD1):c.1541C>T:p.Pro514Leu	coding	Benign
3	171688681	G	A	G171688681A	PLD1	NM_002662.5(PLD1):c.1534C>T:p.Leu512Phe	coding	Benign
3	171688850	T	C	T171688850C	PLD1	NM_002662.5(PLD1):c.1365A>G:p.Ser455=	coding	Benign
3	171692345	T	G	T171692345G	PLD1	NM_002662.5(PLD1):c.1325A>C:p.His442Pro	coding	Pathogenic
3	171699780	G	A	G171699780A	PLD1	NM_002662.5(PLD1):c.1192C>T:p.Arg398Cys	coding	Benign
3	171737907	G	C	G171737907C	PLD1	NM_002662.5(PLD1):c.145C>G:p.Pro49Ala	coding	Benign
3	171737911	G	A	G171737911A	PLD1	NM_002662.5(PLD1):c.141C>T:p.Ser47=	coding	Benign
3	171738022	A	G	A171738022G	PLD1	NM_002662.5(PLD1):c.30T>C:p.Asn10=	coding	Benign
3	172307438	C	T	C172307438T	FNDC3B	NM_022763.4(FNDC3B):c.1137C>T:p.Pro379=	coding	Benign
3	172341241	G	A	G172341241A	FNDC3B	NM_022763.4(FNDC3B):c.1971+10G>A	noncoding	Benign
3	172362804	G	C	G172362804C	FNDC3B	NM_022763.4(FNDC3B):c.2967G>C:p.Glu989Asp	coding	Benign
3	172443425	T	C	T172443425C	GHSR	NM_198407.2(GHSR):c.*1736A>G	noncoding	Benign
3	172443853	A	C	A172443853C	GHSR	NM_198407.2(GHSR):c.*1308T>G	noncoding	Benign
3	172444052	C	A	C172444052A	GHSR	NM_198407.2(GHSR):c.*1109G>T	noncoding	Benign
3	172444137	C	G	C172444137G	GHSR	NM_198407.2(GHSR):c.*1024G>C	noncoding	Benign
3	172444327	G	T	G172444327T	GHSR	NM_198407.2(GHSR):c.*834C>A	noncoding	Benign
3	172444365	T	A	T172444365A	GHSR	NM_198407.2(GHSR):c.*796A>T	noncoding	Benign
3	172444369	C	G	C172444369G	GHSR	NM_198407.2(GHSR):c.*792G>C	noncoding	Benign
3	172445039	G	A	G172445039A	GHSR	NM_198407.2(GHSR):c.*122C>T	noncoding	Benign
3	172445047	T	C	T172445047C	GHSR	NM_198407.2(GHSR):c.*114A>G	noncoding	Benign
3	172447883	G	T	G172447883T	GHSR	NM_198407.2(GHSR):c.531C>A:p.Pro177=	coding	Benign/Likely_benign
3	172447937	C	T	C172447937T	GHSR	NM_198407.2(GHSR):c.477G>A:p.Arg159=	coding	Benign
3	172447967	G	C	G172447967C	GHSR	NM_198407.2(GHSR):c.447C>G:p.Leu149=	coding	Benign
3	172447982	G	A	G172447982A	GHSR	NM_198407.2(GHSR):c.432C>T:p.Ala144=	coding	Benign
3	172448060	G	A	G172448060A	GHSR	NM_198407.2(GHSR):c.354C>T:p.Leu118=	coding	Benign
3	172448143	G	A	G172448143A	GHSR	NM_198407.2(GHSR):c.271C>T:p.Leu91Phe	coding	Benign
3	172448243	G	A	G172448243A	GHSR	NM_198407.2(GHSR):c.171C>T:p.Gly57=	coding	Benign
3	172448270	G	A	G172448270A	GHSR	NM_198407.2(GHSR):c.144C>T:p.Ala48=	coding	Benign
3	172448354	G	A	G172448354A	GHSR	NM_198407.2(GHSR):c.60C>T:p.Asp20=	coding	Benign
3	172448408	C	T	C172448408T	GHSR	NM_198407.2(GHSR):c.6G>A:p.Trp2Ter	coding	Pathogenic
3	172523280	G	A	G172523280A	TNFSF10	NM_003810.4(TNFSF10):c.105C>T:p.Tyr35=	coding	Benign
3	172523288	C	T	C172523288T	TNFSF10	NM_003810.4(TNFSF10):c.97G>A:p.Val33Ile	coding	Benign
3	172648004	G	A	G172648004A	NCEH1	NM_020792.6(NCEH1):c.249C>T:p.Thr83=	coding	Benign
3	172710939	C	T	C172710939T	NCEH1	NM_020792.6(NCEH1):c.46G>A:p.Ala16Thr	coding	Benign
3	172773917	A	G	A172773917G	ECT2	NM_001258315.2(ECT2):c.1443A>G:p.Pro481=	coding	Benign
3	172889572	A	G	A172889572G	SPATA16	NM_031955.6(SPATA16):c.1708T>C:p.Ter570Gln	coding	Benign
3	172889573	C	G	C172889573G	SPATA16	NM_031955.6(SPATA16):c.1707G>C:p.Arg569Ser	coding	Benign
3	173048987	C	T	C173048987T	SPATA16	NM_031955.6(SPATA16):c.720G>A:p.Arg240=	coding	Benign
3	173049032	G	A	G173049032A	SPATA16	NM_031955.6(SPATA16):c.675C>T:p.Ser225=	coding	Benign
3	173117292	C	T	C173117292T	SPATA16	NM_031955.6(SPATA16):c.440G>A:p.Gly147Glu	coding	Benign
3	173117335	T	C	T173117335C	SPATA16	NM_031955.6(SPATA16):c.397A>G:p.Met133Val	coding	Benign
3	173117500	C	T	C173117500T	SPATA16	NM_031955.6(SPATA16):c.232G>A:p.Glu78Lys	coding	Benign
3	173117583	T	C	T173117583C	SPATA16	NM_031955.6(SPATA16):c.149A>G:p.Asn50Ser	coding	Benign/Likely_benign
3	173117602	A	T	A173117602T	SPATA16	NM_031955.6(SPATA16):c.130T>A:p.Ser44Thr	coding	Benign
3	173807717	G	A	G173807717A	NLGN1	NM_014932.5(NLGN1):c.531G>A:p.Val177=	coding	Benign
3	174278943	A	G	A174278943G	NLGN1	NM_014932.5(NLGN1):c.942A>G:p.Arg314=	coding	Benign
3	174279309	T	C	T174279309C	NLGN1	NM_014932.5(NLGN1):c.1308T>C:p.Ile436=	coding	Benign
3	174280841	G	A	G174280841A	NLGN1	NM_014932.5(NLGN1):c.2010G>A:p.Arg670=	coding	Benign
3	174281174	T	C	T174281174C	NLGN1	NM_014932.5(NLGN1):c.2343T>C:p.Ile781=	coding	Benign
3	175471692	T	G	T175471692G	NAALADL2	NM_207015.3(NAALADL2):c.1587T>G:p.Ser529Arg	coding	Benign
3	177026463	T	C	T177026463C	TBL1XR1	NM_024665.6(TBL1XR1):c.1428A>G:p.Leu476=	coding	Benign
3	177033050	T	C	T177033050C	TBL1XR1	NM_024665.6(TBL1XR1):c.1337A>G:p.Tyr446Cys	coding	Pathogenic
3	177033051	A	C	A177033051C	TBL1XR1	NM_024665.6(TBL1XR1):c.1336T>G:p.Tyr446Asp	coding	Pathogenic
3	177033144	A	T	A177033144T	TBL1XR1	NM_024665.7(TBL1XR1):c.1251-8T>A	noncoding	Benign
3	177038112	C	T	C177038112T	TBL1XR1	NM_024665.6(TBL1XR1):c.1108G>A:p.Asp370Asn	coding	Pathogenic/Likely_pathogenic
3	177038442	G	A	G177038442A	TBL1XR1	NM_024665.6(TBL1XR1):c.926-8C>T	noncoding	Benign
3	177047365	C	A	C177047365A	TBL1XR1	NM_024665.7(TBL1XR1):c.799G>T:p.Gly267Cys	coding	Pathogenic
3	177047481	T	C	T177047481C	TBL1XR1	NM_024665.6(TBL1XR1):c.766+5A>G	noncoding	Benign
3	177047518	T	C	T177047518C	TBL1XR1	NM_024665.6(TBL1XR1):c.734A>G:p.Tyr245Cys	coding	Pathogenic
3	177050030	T	C	T177050030C	TBL1XR1	NM_024665.6(TBL1XR1):c.669A>G:p.Pro223=	coding	Benign/Likely_benign
3	177051640	T	C	T177051640C	TBL1XR1	NM_024665.6(TBL1XR1):c.291A>G:p.Gln97=	coding	Benign/Likely_benign
3	177051722	C	T	C177051722T	TBL1XR1	NM_001321195.2(TBL1XR1):c.-53G>A	coding	Pathogenic
3	177053887	T	G	T177053887G	TBL1XR1	NM_024665.6(TBL1XR1):c.90A>C:p.Ile30=	coding	Benign/Likely_benign
3	179199073	T	C	T179199073C	PIK3CA	NM_006218.4(PIK3CA):c.248T>C:p.Phe83Ser	coding	Pathogenic
3	179199088	G	A	G179199088A	PIK3CA	NM_006218.4(PIK3CA):c.263G>A:p.Arg88Gln	coding	Pathogenic
3	179199103	G	A	G179199103A	PIK3CA	NM_006218.4(PIK3CA):c.278G>A:p.Arg93Gln	coding	Pathogenic
3	179199143	C	A	C179199143A	PIK3CA	NM_006218.4(PIK3CA):c.318C>A:p.Gly106=	coding	Benign/Likely_benign
3	179199160	T	A	T179199160A	PIK3CA	NM_006218.4(PIK3CA):c.335T>A:p.Ile112Asn	coding	Pathogenic
3	179199690	G	A	G179199690A	PIK3CA	NM_006218.4(PIK3CA):c.353G>A:p.Gly118Asp	coding	Pathogenic/Likely_pathogenic
3	179199700	C	T	C179199700T	PIK3CA	NM_006218.4(PIK3CA):c.363C>T:p.Ile121=	coding	Benign
3	179199740	G	A	G179199740A	PIK3CA	NM_006218.4(PIK3CA):c.403G>A:p.Glu135Lys	coding	Pathogenic
3	179201379	G	A	G179201379A	PIK3CA	NM_006218.4(PIK3CA):c.652G>A:p.Glu218Lys	coding	Pathogenic
3	179203760	G	A	G179203760A	PIK3CA	NM_006218.4(PIK3CA):c.1030G>A:p.Val344Met	coding	Pathogenic/Likely_pathogenic
3	179203765	T	A	T179203765A	PIK3CA	NM_006218.4(PIK3CA):c.1035T>A:p.Asn345Lys	coding	Pathogenic
3	179204485	C	A	C179204485A	PIK3CA	NM_006218.4(PIK3CA):c.1060-18C>A	noncoding	Benign
3	179204486	C	A	C179204486A	PIK3CA	NM_006218.4(PIK3CA):c.1060-17C>A	noncoding	Benign
3	179204509	G	A	G179204509A	PIK3CA	NM_006218.4(PIK3CA):c.1066G>A:p.Val356Ile	coding	Pathogenic
3	179204536	G	A	G179204536A	PIK3CA	NM_006218.4(PIK3CA):c.1093G>A:p.Glu365Lys	coding	Pathogenic
3	179204576	G	A	G179204576A	PIK3CA	NM_006218.4(PIK3CA):c.1133G>A:p.Cys378Tyr	coding	Pathogenic
3	179204586	C	G	C179204586G	PIK3CA	NM_006218.4(PIK3CA):c.1143C>G:p.Pro381=	coding	Benign
3	179209622	A	G	A179209622G	PIK3CA	NM_006218.4(PIK3CA):c.1173A>G:p.Ile391Met	coding	Benign
3	179210192	T	C	T179210192C	PIK3CA	NM_006218.4(PIK3CA):c.1258T>C:p.Cys420Arg	coding	Pathogenic
3	179210291	G	A	G179210291A	PIK3CA	NM_006218.4(PIK3CA):c.1357G>A:p.Glu453Lys	coding	Pathogenic
3	179218294	G	A	G179218294A	PIK3CA	NM_006218.4(PIK3CA):c.1624G>A:p.Glu542Lys	coding	Pathogenic/Likely_pathogenic
3	179218294	G	C	G179218294C	PIK3CA	NM_006218.4(PIK3CA):c.1624G>C:p.Glu542Gln	coding	Pathogenic/Likely_pathogenic
3	179218295	A	C	A179218295C	PIK3CA	NM_006218.4(PIK3CA):c.1625A>C:p.Glu542Ala	coding	Pathogenic/Likely_pathogenic
3	179218303	G	A	G179218303A	PIK3CA	NM_006218.4(PIK3CA):c.1633G>A:p.Glu545Lys	coding	Pathogenic/Likely_pathogenic
3	179218304	A	C	A179218304C	PIK3CA	NM_006218.4(PIK3CA):c.1634A>C:p.Glu545Ala	coding	Pathogenic
3	179218304	A	G	A179218304G	PIK3CA	NM_006218.4(PIK3CA):c.1634A>G:p.Glu545Gly	coding	Pathogenic/Likely_pathogenic
3	179218304	A	T	A179218304T	PIK3CA	NM_006218.4(PIK3CA):c.1634A>T:p.Glu545Val	coding	Pathogenic
3	179218305	G	T	G179218305T	PIK3CA	NM_006218.4(PIK3CA):c.1635G>T:p.Glu545Asp	coding	Pathogenic/Likely_pathogenic
3	179218306	C	A	C179218306A	PIK3CA	NM_006218.4(PIK3CA):c.1636C>A:p.Gln546Lys	coding	Pathogenic/Likely_pathogenic
3	179218306	C	G	C179218306G	PIK3CA	NM_006218.4(PIK3CA):c.1636C>G:p.Gln546Glu	coding	Pathogenic/Likely_pathogenic
3	179218307	A	C	A179218307C	PIK3CA	NM_006218.4(PIK3CA):c.1637A>C:p.Gln546Pro	coding	Pathogenic/Likely_pathogenic
3	179218307	A	G	A179218307G	PIK3CA	NM_006218.4(PIK3CA):c.1637A>G:p.Gln546Arg	coding	Pathogenic
3	179218307	A	T	A179218307T	PIK3CA	NM_006218.4(PIK3CA):c.1637A>T:p.Gln546Leu	coding	Pathogenic/Likely_pathogenic
3	179218315	G	A	G179218315A	PIK3CA	NM_006218.4(PIK3CA):c.1645G>A:p.Asp549Asn	coding	Pathogenic
3	179219558	T	C	T179219558C	PIK3CA	NM_006218.4(PIK3CA):c.1747-13T>C	noncoding	Benign
3	179219612	A	G	A179219612G	PIK3CA	NM_006218.4(PIK3CA):c.1788A>G:p.Glu596=	coding	Benign
3	179219633	C	T	C179219633T	PIK3CA	NM_006218.4(PIK3CA):c.1809C>T:p.Asp603=	coding	Benign
3	179219719	T	G	T179219719G	PIK3CA	NM_006218.4(PIK3CA):c.1895T>G:p.Leu632Ter	coding	Pathogenic
3	179220957	A	T	A179220957T	PIK3CA	NM_006218.4(PIK3CA):c.2016-29A>T	noncoding	Benign
3	179220974	C	T	C179220974T	PIK3CA	NM_006218.4(PIK3CA):c.2016-12C>T	noncoding	Benign
3	179221146	G	A	G179221146A	PIK3CA	NM_006218.4(PIK3CA):c.2176G>A:p.Glu726Lys	coding	Pathogenic
3	179221151	A	T	A179221151T	PIK3CA	NM_006218.4(PIK3CA):c.2181A>T:p.Thr727=	coding	Benign
3	179224091	A	G	A179224091G	PIK3CA	NM_006218.4(PIK3CA):c.2198A>G:p.Lys733Arg	coding	Benign
3	179224703	T	G	T179224703G	PIK3CA	NM_006218.4(PIK3CA):c.2298T>G:p.Leu766=	coding	Benign
3	179230077	G	A	G179230077A	PIK3CA	NM_006218.4(PIK3CA):c.2740G>A:p.Gly914Arg	coding	Pathogenic/Likely_pathogenic
3	179234230	A	G	A179234230G	PIK3CA	NM_006218.4(PIK3CA):c.3073A>G:p.Thr1025Ala	coding	Pathogenic
3	179234232	C	T	C179234232T	PIK3CA	NM_006218.4(PIK3CA):c.3075C>T:p.Thr1025=	coding	Benign/Likely_benign
3	179234286	G	A	G179234286A	PIK3CA	NM_006218.4(PIK3CA):c.3129G>A:p.Met1043Ile	coding	Pathogenic/Likely_pathogenic
3	179234286	G	T	G179234286T	PIK3CA	NM_006218.4(PIK3CA):c.3129G>T:p.Met1043Ile	coding	Pathogenic
3	179234288	A	G	A179234288G	PIK3CA	NM_006218.4(PIK3CA):c.3131A>G:p.Asn1044Ser	coding	Pathogenic
3	179234296	C	T	C179234296T	PIK3CA	NM_006218.4(PIK3CA):c.3139C>T:p.His1047Tyr	coding	Pathogenic
3	179234297	A	G	A179234297G	PIK3CA	NM_006218.4(PIK3CA):c.3140A>G:p.His1047Arg	coding	Pathogenic
3	179234297	A	T	A179234297T	PIK3CA	NM_006218.4(PIK3CA):c.3140A>T:p.His1047Leu	coding	Pathogenic
3	179243237	G	C	G179243237C	KCNMB3	NM_171830.1(KCNMB3):c.495C>G:p.Asn165Lys	coding	Benign
3	179243250	T	C	T179243250C	KCNMB3	NM_171830.1(KCNMB3):c.482A>G:p.Asn161Ser	coding	Benign
3	179401210	C	T	C179401210T	GNB4	NM_021629.4(GNB4):c.*3G>A	noncoding	Benign
3	179401278	C	T	C179401278T	GNB4	NM_021629.4(GNB4):c.958G>A:p.Val320Ile	coding	Benign
3	179415051	T	C	T179415051C	GNB4	NM_021629.4(GNB4):c.268-4A>G	noncoding	Benign
3	179416517	A	G	A179416517G	GNB4	NM_021629.4(GNB4):c.243T>C:p.Ile81=	coding	Benign
3	179419416	A	G	A179419416G	GNB4	NM_021629.4(GNB4):c.186T>C:p.His62=	coding	Benign
3	179419485	A	G	A179419485G	GNB4	NM_021629.4(GNB4):c.117T>C:p.Ser39=	coding	Benign
3	179426153	A	G	A179426153G	GNB4	NM_021629.4(GNB4):c.48T>C:p.Asn16=	coding	Benign
3	179708794	C	T	C179708794T	USP13	NM_003940.3(USP13):c.642C>T:p.Cys214=	coding	Benign
3	179742292	G	A	G179742292A	USP13	NM_003940.3(USP13):c.1476G>A:p.Thr492=	coding	Benign
3	179754859	C	T	C179754859T	USP13	NM_003940.3(USP13):c.1921+5C>T	noncoding	Benign
3	180614121	C	T	C180614121T	CCDC39	NM_181426.2(CCDC39):c.*800G>A	coding	Benign
3	180614346	A	G	A180614346G	CCDC39	NM_181426.2(CCDC39):c.*575T>C	coding	Benign
3	180614375	T	G	T180614375G	CCDC39	NM_181426.2(CCDC39):c.*546A>C	coding	Benign
3	180614422	T	G	T180614422G	CCDC39	NM_181426.2(CCDC39):c.*499A>C	coding	Benign
3	180614788	T	A	T180614788A	CCDC39	NM_181426.2(CCDC39):c.*133A>T	coding	Benign
3	180616275	G	A	G180616275A	CCDC39	NM_181426.2(CCDC39):c.2669+6C>T	noncoding	Benign
3	180616354	C	A	C180616354A	CCDC39	NM_181426.2(CCDC39):c.2596G>T:p.Glu866Ter	coding	Pathogenic
3	180616551	C	A	C180616551A	CCDC39	NM_181426.2(CCDC39):c.2551G>T:p.Glu851Ter	coding	Pathogenic
3	180616670	C	T	C180616670T	CCDC39	NM_181426.2(CCDC39):c.2432G>A:p.Arg811His	coding	Benign
3	180616694	C	T	C180616694T	CCDC39	NM_181426.2(CCDC39):c.2408G>A:p.Cys803Tyr	coding	Benign/Likely_benign
3	180616835	C	T	C180616835T	CCDC39	NM_181426.2(CCDC39):c.2397G>A:p.Val799=	coding	Benign
3	180616931	C	T	C180616931T	CCDC39	NM_181426.2(CCDC39):c.2301G>A:p.Leu767=	coding	Benign
3	180616954	T	C	T180616954C	CCDC39	NM_181426.2(CCDC39):c.2278A>G:p.Thr760Ala	coding	Benign
3	180619294	G	C	G180619294C	CCDC39	NM_181426.2(CCDC39):c.2230C>G:p.Gln744Glu	coding	Benign
3	180619298	G	T	G180619298T	CCDC39	NM_181426.2(CCDC39):c.2226C>A:p.Tyr742Ter	coding	Pathogenic
3	180619381	T	G	T180619381G	CCDC39	NM_181426.2(CCDC39):c.2159-16A>C	noncoding	Benign
3	180631612	C	T	C180631612T	CCDC39	NM_181426.2(CCDC39):c.1875-20G>A	noncoding	Benign
3	180641992	C	T	C180641992T	CCDC39	NM_181426.2(CCDC39):c.1874+1G>A	noncoding	Pathogenic
3	180644119	C	T	C180644119T	CCDC39	NM_181426.2(CCDC39):c.1665+1G>A	noncoding	Pathogenic
3	180644300	T	C	T180644300C	CCDC39	NM_181426.2(CCDC39):c.1528-43A>G	noncoding	Benign
3	180647147	G	C	G180647147C	CCDC39	NM_181426.2(CCDC39):c.1459C>G:p.Leu487Val	coding	Benign
3	180647173	T	C	T180647173C	CCDC39	NM_181426.2(CCDC39):c.1433A>G:p.Gln478Arg	coding	Benign/Likely_benign
3	180648168	G	A	G180648168A	CCDC39	NM_181426.2(CCDC39):c.1359C>T:p.Ser453=	coding	Benign
3	180648279	T	C	T180648279C	CCDC39	NM_181426.2(CCDC39):c.1248A>G:p.Glu416=	coding	Benign
3	180650140	T	C	T180650140C	CCDC39	NM_181426.2(CCDC39):c.1167+1261A>G	noncoding	Pathogenic
3	180652161	A	T	A180652161T	CCDC39	NM_181426.2(CCDC39):c.1034+2T>A	noncoding	Pathogenic/Likely_pathogenic
3	180652189	C	T	C180652189T	CCDC39	NM_181426.2(CCDC39):c.1008G>A:p.Lys336=	coding	Benign/Likely_benign
3	180654750	G	C	G180654750C	CCDC39	NM_181426.2(CCDC39):c.930+12C>G	noncoding	Benign
3	180659526	C	A	C180659526A	CCDC39	NM_181426.2(CCDC39):c.664G>T:p.Glu222Ter	coding	Pathogenic
3	180659582	T	C	T180659582C	CCDC39	NM_181426.2(CCDC39):c.610-2A>G	noncoding	Pathogenic
3	180659682	C	T	C180659682T	CCDC39	NM_181426.2(CCDC39):c.604G>A:p.Ala202Thr	coding	Benign/Likely_benign
3	180659741	G	C	G180659741C	CCDC39	NM_181426.2(CCDC39):c.545C>G:p.Thr182Ser	coding	Benign
3	180660593	G	A	G180660593A	CCDC39	NM_181426.2(CCDC39):c.493C>T:p.Gln165Ter	coding	Pathogenic
3	180660614	G	C	G180660614C	CCDC39	NM_181426.2(CCDC39):c.472C>G:p.Leu158Val	coding	Benign
3	180660684	A	T	A180660684T	CCDC39	NM_181426.2(CCDC39):c.402T>A:p.Cys134Ter	coding	Pathogenic
3	180661860	C	G	C180661860G	CCDC39	NM_181426.2(CCDC39):c.357+1G>C	noncoding	Pathogenic
3	180661932	G	A	G180661932A	CCDC39	NM_181426.2(CCDC39):c.286C>T:p.Arg96Ter	coding	Pathogenic
3	180661985	C	T	C180661985T	CCDC39	NM_181426.2(CCDC39):c.233G>A:p.Arg78His	coding	Benign/Likely_benign
3	180663938	C	A	C180663938A	CCDC39	NM_181426.2(CCDC39):c.139G>T:p.Glu47Ter	coding	Pathogenic
3	180912712	C	T	C180912712T	FXR1	NM_005087.4(FXR1):c.27C>T:p.Arg9=	coding	Benign
3	180933327	C	T	C180933327T	FXR1	NM_005087.4(FXR1):c.52-7C>T	noncoding	Benign
3	180948769	A	T	A180948769T	FXR1	NM_005087.4(FXR1):c.468A>T:p.Ala156=	coding	Benign
3	180951420	C	T	C180951420T	FXR1	NM_005087.4(FXR1):c.753C>T:p.Thr251=	coding	Benign
3	180961539	T	C	T180961539C	FXR1	NM_005087.4(FXR1):c.1062T>C:p.His354=	coding	Benign
3	180984706	T	G	T180984706G	DNAJC19	NM_145261.4(DNAJC19):c.285A>C:p.Gly95=	coding	Benign/Likely_benign
3	180984722	A	G	A180984722G	DNAJC19	NM_145261.4(DNAJC19):c.281-12T>C	noncoding	Benign
3	180986003	A	T	A180986003T	DNAJC19	NM_145261.4(DNAJC19):c.210-7T>A	noncoding	Benign
3	180987023	C	G	C180987023G	DNAJC19	NM_145261.4(DNAJC19):c.130-1G>C	coding	Pathogenic
3	180988083	C	T	C180988083T	DNAJC19	NM_145261.4(DNAJC19):c.69G>A:p.Leu23=	coding	Benign
3	180988089	G	C	G180988089C	DNAJC19	NM_145261.4(DNAJC19):c.63C>G:p.Tyr21Ter	coding	Pathogenic
3	180989631	C	A	C180989631A	DNAJC19	NM_145261.4(DNAJC19):c.-29G>T	noncoding	Benign
3	181712330	C	T	C181712330T	SOX2	NM_003106.4(SOX2):c.-31C>T	noncoding	Benign
3	181712376	G	T	G181712376T	SOX2	NM_003106.4(SOX2):c.16G>T:p.Glu6Ter	coding	Pathogenic
3	181712413	C	A	C181712413A	SOX2	NM_003106.4(SOX2):c.53C>A:p.Ser18Ter	coding	Pathogenic
3	181712491	C	G	C181712491G	SOX2	NM_003106.4(SOX2):c.131C>G:p.Pro44Arg	coding	Pathogenic
3	181712498	T	G	T181712498G	SOX2	NM_003106.4(SOX2):c.138T>G:p.Asn46Lys	coding	Pathogenic
3	181712523	C	T	C181712523T	SOX2	NM_003106.4(SOX2):c.163C>T:p.Gln55Ter	coding	Pathogenic
3	181712526	C	G	C181712526G	SOX2	NM_003106.4(SOX2):c.166C>G:p.Arg56Gly	coding	Pathogenic
3	181712541	C	T	C181712541T	SOX2	NM_003106.4(SOX2):c.181C>T:p.Gln61Ter	coding	Pathogenic
3	181712581	G	C	G181712581C	SOX2	NM_003106.4(SOX2):c.221G>C:p.Arg74Pro	coding	Pathogenic
3	181712591	C	A	C181712591A	SOX2	NM_003106.4(SOX2):c.231C>A:p.Ala77=	coding	Benign
3	181712605	T	A	T181712605A	SOX2	NM_003106.4(SOX2):c.245T>A:p.Leu82Ter	coding	Pathogenic
3	181712608	C	A	C181712608A	SOX2	NM_003106.4(SOX2):c.248C>A:p.Ser83Ter	coding	Pathogenic
3	181712637	G	T	G181712637T	SOX2	NM_003106.4(SOX2):c.277G>T:p.Glu93Ter	coding	Pathogenic
3	181712650	T	C	T181712650C	SOX2	NM_003106.4(SOX2):c.290T>C:p.Leu97Pro	coding	Pathogenic
3	181712670	G	T	G181712670T	SOX2	NM_003106.4(SOX2):c.310G>T:p.Glu104Ter	coding	Pathogenic
3	181712728	A	G	A181712728G	SOX2;SOX2-OT	NM_003106.4(SOX2):c.368A>G:p.Asp123Gly	coding	Pathogenic
3	181712749	G	C	G181712749C	SOX2	NM_003106.4(SOX2):c.389G>C:p.Gly130Ala	coding	Pathogenic
3	181712813	G	A	G181712813A	SOX2	NM_003106.4(SOX2):c.453G>A:p.Ala151=	coding	Benign
3	181712823	C	T	C181712823T	SOX2	NM_003106.4(SOX2):c.463C>T:p.Gln155Ter	coding	Pathogenic
3	181712840	C	G	C181712840G	SOX2	NM_003106.4(SOX2):c.480C>G:p.Tyr160Ter	coding	Pathogenic
3	181712889	C	T	C181712889T	SOX2	NM_003106.4(SOX2):c.529C>T:p.Gln177Ter	coding	Pathogenic
3	181712900	C	G	C181712900G	SOX2	NM_003106.4(SOX2):c.540C>G:p.Tyr180Ter	coding	Pathogenic
3	181712960	C	G	C181712960G	SOX2	NM_003106.4(SOX2):c.600C>G:p.Tyr200Ter	coding	Pathogenic
3	181713194	C	T	C181713194T	SOX2	NM_003106.4(SOX2):c.834C>T:p.Leu278=	coding	Benign/Likely_benign
3	182965756	A	G	A182965756G	DCUN1D1	NM_020640.4(DCUN1D1):c.4-3T>C	noncoding	Benign
3	183015467	C	T	C183015467T	MCCC1	NM_020166.5(MCCC1):c.2149G>A:p.Glu717Lys	coding	Benign
3	183015759	T	C	T183015759C	MCCC1	NM_020166.5(MCCC1):c.2050-193A>G	noncoding	Benign
3	183017523	C	T	C183017523T	MCCC1	NM_020166.5(MCCC1):c.1978-186G>A	noncoding	Benign
3	183020177	C	A	C183020177A	MCCC1	NM_020166.5(MCCC1):c.1930G>T:p.Glu644Ter	coding	Pathogenic
3	183020499	G	A	G183020499A	MCCC1	NM_020166.5(MCCC1):c.1870-262C>T	noncoding	Benign
3	183025479	C	A	C183025479A	MCCC1	NM_020166.5(MCCC1):c.1731+276G>T	noncoding	Benign
3	183025764	A	C	A183025764C	MCCC1	NM_020166.5(MCCC1):c.1722T>G:p.Tyr574Ter	coding	Pathogenic
3	183025807	T	C	T183025807C	MCCC1	NM_020166.5(MCCC1):c.1682-3A>G	noncoding	Pathogenic
3	183034058	C	T	C183034058T	MCCC1	NM_020166.5(MCCC1):c.1614G>A:p.Ser538=	coding	Benign/Likely_benign
3	183034068	G	A	G183034068A	MCCC1	NM_020166.5(MCCC1):c.1604C>T:p.Ser535Phe	coding	Pathogenic
3	183037179	A	G	A183037179G	MCCC1	NM_020166.5(MCCC1):c.1594+39T>C	noncoding	Benign
3	183037218	C	G	C183037218G	MCCC1	NM_020166.5(MCCC1):c.1594G>C:p.Asp532His	coding	Pathogenic
3	183037285	G	T	G183037285T	MCCC1	NM_020166.5(MCCC1):c.1527C>A:p.Cys509Ter	coding	Pathogenic
3	183037313	C	T	C183037313T	MCCC1	NM_020166.5(MCCC1):c.1499G>A:p.Arg500Gln	coding	Benign/Likely_benign
3	183037421	T	G	T183037421G	MCCC1	NM_020166.5(MCCC1):c.1391A>C:p.His464Pro	coding	Benign
3	183037432	A	C	A183037432C	MCCC1	NM_020166.5(MCCC1):c.1380T>G:p.Ile460Met	coding	Pathogenic
3	183039093	A	G	A183039093G	MCCC1	NM_020166.5(MCCC1):c.1310T>C:p.Leu437Pro	coding	Pathogenic
3	183039390	T	C	T183039390C	MCCC1	NM_020166.5(MCCC1):c.1268-255A>G	noncoding	Benign
3	183041609	G	A	G183041609A	MCCC1	NM_020166.5(MCCC1):c.1225C>T:p.Arg409Ter	coding	Pathogenic
3	183041679	T	G	T183041679G	MCCC1	NM_020166.5(MCCC1):c.1155A>C:p.Arg385Ser	coding	Pathogenic
3	183041720	G	A	G183041720A	MCCC1	NM_020166.5(MCCC1):c.1114C>T:p.Gln372Ter	coding	Pathogenic
3	183041967	C	T	C183041967T	MCCC1	NM_020166.5(MCCC1):c.1084-217G>A	noncoding	Benign
3	183045228	C	T	C183045228T	MCCC1	NM_020166.5(MCCC1):c.1083+185G>A	noncoding	Benign
3	183045516	G	C	G183045516C	MCCC1	NM_020166.5(MCCC1):c.980C>G:p.Ser327Ter	coding	Pathogenic
3	183045522	A	C	A183045522C	MCCC1	NM_020166.5(MCCC1):c.974T>G:p.Met325Arg	coding	Pathogenic/Likely_pathogenic
3	183045792	G	A	G183045792A	MCCC1	NM_020166.5(MCCC1):c.956-252C>T	noncoding	Benign
3	183052169	A	G	A183052169G	MCCC1	NM_020166.5(MCCC1):c.945T>C:p.Tyr315=	coding	Benign/Likely_benign
3	183052169	A	T	A183052169T	MCCC1	NM_020166.5(MCCC1):c.945T>A:p.Tyr315Ter	coding	Pathogenic
3	183057343	G	A	G183057343A	MCCC1	NM_020166.5(MCCC1):c.841C>T:p.Arg281Ter	coding	Pathogenic
3	183057609	C	T	C183057609T	MCCC1	NM_020166.5(MCCC1):c.762-187G>A	noncoding	Benign
3	183071034	A	G	A183071034G	MCCC1	NM_020166.5(MCCC1):c.726T>C:p.Asp242=	coding	Benign
3	183071074	T	C	T183071074C	MCCC1	NM_020166.5(MCCC1):c.686A>G:p.Glu229Gly	coding	Benign
3	183071087	G	A	G183071087A	MCCC1	NM_020166.5(MCCC1):c.673C>T:p.Gln225Ter	coding	Pathogenic
3	183071121	C	T	C183071121T	MCCC1	NM_020166.5(MCCC1):c.640-1G>A	coding	Pathogenic
3	183071122	T	C	T183071122C	MCCC1	NM_020166.5(MCCC1):c.640-2A>G	noncoding	Pathogenic/Likely_pathogenic
3	183071208	A	T	A183071208T	MCCC1	NM_020166.5(MCCC1):c.639+2T>A	noncoding	Pathogenic
3	183071579	T	C	T183071579C	MCCC1	NM_020166.5(MCCC1):c.492-222A>G	noncoding	Benign
3	183072461	G	A	G183072461A	MCCC1	NM_020166.5(MCCC1):c.396C>T:p.Leu132=	coding	Benign
3	183072470	G	T	G183072470T	MCCC1	NM_020166.5(MCCC1):c.387C>A:p.Cys129Ter	coding	Pathogenic
3	183086719	G	A	G183086719A	MCCC1	NM_020166.5(MCCC1):c.343C>T:p.Gln115Ter	coding	Pathogenic
3	183092356	T	G	T183092356G	MCCC1	NM_020166.5(MCCC1):c.273+53A>C	noncoding	Benign
3	183092377	G	A	G183092377A	MCCC1	NM_020166.5(MCCC1):c.273+32C>T	noncoding	Benign
3	183092477	T	A	T183092477A	MCCC1	NM_020166.5(MCCC1):c.205A>T:p.Lys69Ter	coding	Pathogenic
3	183092514	G	C	G183092514C	MCCC1	NM_020166.5(MCCC1):c.168C>G:p.Asn56Lys	coding	Pathogenic
3	183092547	T	C	T183092547C	MCCC1	NM_020166.5(MCCC1):c.137-2A>G	noncoding	Pathogenic
3	183099464	T	C	T183099464C	MCCC1	NM_020166.5(MCCC1):c.-24A>G	noncoding	Benign/Likely_benign
3	183099465	G	T	G183099465T	MCCC1	NM_020166.5(MCCC1):c.-25C>A	noncoding	Benign
3	183099540	C	G	C183099540G	MCCC1	NM_001363880.1(MCCC1):c.-290G>C	noncoding	Benign
3	183650357	A	G	A183650357G	KLHL24	NM_017644.3(KLHL24):c.1A>G:p.Met1Val	coding	Pathogenic
3	183650357	A	T	A183650357T	KLHL24	NM_017644.3(KLHL24):c.1A>T:p.Met1Leu	coding	Pathogenic
3	183650358	T	C	T183650358C	KLHL24	NM_017644.3(KLHL24):c.2T>C:p.Met1Thr	coding	Pathogenic
3	183650359	G	A	G183650359A	KLHL24	NM_017644.3(KLHL24):c.3G>A:p.Met1Ile	coding	Pathogenic
3	183650359	G	C	G183650359C	KLHL24	NM_017644.3(KLHL24):c.3G>C:p.Met1Ile	coding	Pathogenic
3	183650359	G	T	G183650359T	KLHL24	NM_017644.3(KLHL24):c.3G>T:p.Met1Ile	coding	Pathogenic
3	183756580	C	T	C183756580T	YEATS2	NM_018023.5(YEATS2):c.1443C>T:p.Ser481=	coding	Benign
3	183758910	C	A	C183758910A	YEATS2	NM_018023.5(YEATS2):c.1601C>A:p.Thr534Lys	coding	Benign
3	183790881	G	A	G183790881A	YEATS2	NM_018023.5(YEATS2):c.2998G>A:p.Ala1000Thr	coding	Benign
3	183949767	C	T	C183949767T	ABCC5	NM_005688.4(ABCC5):c.3213G>A:p.Gln1071=	coding	Benign
3	183982764	C	T	C183982764T	ABCC5	NM_005688.4(ABCC5):c.825+10G>A	noncoding	Benign
3	184054731	C	T	C184054731T	HTR3C	NM_130770.3(HTR3C):c.78C>T:p.Asp26=	coding	Benign
3	184056961	C	A	C184056961A	HTR3C	NM_130770.3(HTR3C):c.476C>A:p.Thr159Asn	coding	Benign
3	184056965	C	T	C184056965T	HTR3C	NM_130770.3(HTR3C):c.480C>T:p.Ser160=	coding	Benign
3	184060329	G	A	G184060329A	HTR3C	NM_130770.3(HTR3C):c.1321G>A:p.Val441Ile	coding	Benign
3	184106595	T	G	T184106595G	HTR3E	NM_182589.2(HTR3E):c.1318T>G:p.Leu440Val	coding	Benign
3	184135073	A	G	A184135073G	EIF2B5	NM_003907.3(EIF2B5):c.-313A>G	noncoding	Benign
3	184135551	T	G	T184135551G	EIF2B5	NM_003907.3(EIF2B5):c.166T>G:p.Phe56Val	coding	Pathogenic
3	184135552	T	G	T184135552G	EIF2B5	NM_003907.3(EIF2B5):c.167T>G:p.Phe56Cys	coding	Pathogenic
3	184136657	G	A	G184136657A	EIF2B5	NM_003907.3(EIF2B5):c.241G>A:p.Glu81Lys	coding	Pathogenic/Likely_pathogenic
3	184136687	A	G	A184136687G	EIF2B5	NM_003907.3(EIF2B5):c.271A>G:p.Thr91Ala	coding	Pathogenic
3	184136707	G	A	G184136707A	EIF2B5	NM_003907.3(EIF2B5):c.291G>A:p.Trp97Ter	coding	Pathogenic
3	184136745	C	T	C184136745T	EIF2B5	NM_003907.3(EIF2B5):c.320+9C>T	noncoding	Benign
3	184137636	C	T	C184137636T	EIF2B5	NM_003907.3(EIF2B5):c.337C>T:p.Arg113Cys	coding	Pathogenic
3	184137637	G	A	G184137637A	EIF2B5	NM_003907.3(EIF2B5):c.338G>A:p.Arg113His	coding	Pathogenic
3	184137706	G	A	G184137706A	EIF2B5	NM_003907.3(EIF2B5):c.407G>A:p.Arg136His	coding	Pathogenic
3	184137974	C	T	C184137974T	EIF2B5	NM_003907.3(EIF2B5):c.583C>T:p.Arg195Cys	coding	Pathogenic
3	184137975	G	A	G184137975A	EIF2B5	NM_003907.3(EIF2B5):c.584G>A:p.Arg195His	coding	Pathogenic
3	184140120	G	A	G184140120A	EIF2B5	NM_003907.3(EIF2B5):c.806G>A:p.Arg269Gln	coding	Pathogenic/Likely_pathogenic
3	184140122	G	C	G184140122C	EIF2B5	NM_003907.3(EIF2B5):c.808G>C:p.Asp270His	coding	Pathogenic
3	184140499	G	C	G184140499C	EIF2B5	NM_003907.3(EIF2B5):c.925G>C:p.Val309Leu	coding	Pathogenic
3	184140517	C	T	C184140517T	EIF2B5	NM_003907.3(EIF2B5):c.943C>T:p.Arg315Cys	coding	Pathogenic
3	184140518	G	A	G184140518A	EIF2B5	NM_003907.3(EIF2B5):c.944G>A:p.Arg315His	coding	Pathogenic
3	184140589	C	T	C184140589T	EIF2B5	NM_003907.3(EIF2B5):c.1015C>T:p.Arg339Trp	coding	Pathogenic
3	184140590	G	A	G184140590A	EIF2B5	NM_003907.3(EIF2B5):c.1016G>A:p.Arg339Gln	coding	Pathogenic/Likely_pathogenic
3	184140590	G	C	G184140590C	EIF2B5	NM_003907.3(EIF2B5):c.1016G>C:p.Arg339Pro	coding	Pathogenic
3	184141925	G	T	G184141925T	EIF2B5	NM_003907.3(EIF2B5):c.1157G>T:p.Gly386Val	coding	Pathogenic
3	184141935	G	A	G184141935A	EIF2B5	NM_003907.3(EIF2B5):c.1167G>A:p.Val389=	coding	Benign
3	184142274	C	T	C184142274T	EIF2B5	NM_003907.3(EIF2B5):c.1340C>T:p.Ser447Leu	coding	Pathogenic
3	184142275	G	A	G184142275A	EIF2B5	NM_003907.3(EIF2B5):c.1341G>A:p.Ser447=	coding	Benign/Likely_benign
3	184142846	G	A	G184142846A	EIF2B5	NM_003907.3(EIF2B5):c.1614G>A:p.Pro538=	coding	Benign/Likely_benign
3	184143083	G	A	G184143083A	EIF2B5	NM_003907.3(EIF2B5):c.1686G>A:p.Gln562=	coding	Benign/Likely_benign
3	184143455	A	G	A184143455G	EIF2B5	NM_003907.3(EIF2B5):c.1759A>G:p.Ile587Val	coding	Benign
3	184144094	C	A	C184144094A	EIF2B5	NM_003907.3(EIF2B5):c.1870-5C>A	noncoding	Benign
3	184144111	T	C	T184144111C	EIF2B5	NM_003907.3(EIF2B5):c.1882T>C:p.Trp628Arg	coding	Pathogenic
3	184144175	T	C	T184144175C	EIF2B5	NM_003907.3(EIF2B5):c.1946T>C:p.Ile649Thr	coding	Pathogenic/Likely_pathogenic
3	184144610	T	C	T184144610C	EIF2B5	NM_003907.3(EIF2B5):c.2009T>C:p.Phe670Ser	coding	Pathogenic
3	184145071	T	C	T184145071C	EIF2B5	NM_003907.3(EIF2B5):c.*128T>C	noncoding	Benign
3	184164320	C	T	C184164320T	DVL3	NM_004423.4(DVL3):c.285C>T:p.Asn95=	coding	Benign
3	184164326	G	A	G184164326A	DVL3	NM_004423.4(DVL3):c.291G>A:p.Ser97=	coding	Benign
3	184164341	T	A	T184164341A	DVL3	NM_004423.4(DVL3):c.306T>A:p.Pro102=	coding	Benign
3	184164533	A	G	A184164533G	DVL3	NM_004423.4(DVL3):c.395A>G:p.Asp132Gly	coding	Benign
3	184165474	C	T	C184165474T	DVL3	NM_004423.4(DVL3):c.746C>T:p.Thr249Met	coding	Benign
3	184166120	C	T	C184166120T	DVL3	NM_004423.4(DVL3):c.764-6C>T	noncoding	Benign
3	184166169	C	T	C184166169T	DVL3	NM_004423.4(DVL3):c.807C>T:p.Asn269=	coding	Benign
3	184167644	C	T	C184167644T	DVL3	NM_004423.4(DVL3):c.1263C>T:p.Ser421=	coding	Benign
3	184168044	A	G	A184168044G	DVL3	NM_004423.4(DVL3):c.1477A>G:p.Ile493Val	coding	Benign
3	184170315	A	C	A184170315C	DVL3	NM_004423.4(DVL3):c.1715-4A>C	noncoding	Benign
3	184170317	A	C	A184170317C	DVL3	NM_004423.4(DVL3):c.1715-2A>C	noncoding	Pathogenic
3	184170317	A	G	A184170317G	DVL3	NM_004423.4(DVL3):c.1715-2A>G	noncoding	Pathogenic
3	184170318	G	A	G184170318A	DVL3	NM_004423.4(DVL3):c.1715-1G>A	noncoding	Pathogenic
3	184170392	C	T	C184170392T	DVL3	NM_004423.4(DVL3):c.1788C>T:p.Ser596=	coding	Benign
3	184170463	C	T	C184170463T	DVL3	NM_004423.4(DVL3):c.1859C>T:p.Ala620Val	coding	Benign
3	184180258	G	A	G184180258A	AP2M1	NM_004068.4(AP2M1):c.423+7G>A	noncoding	Benign
3	184180927	C	T	C184180927T	AP2M1	NM_004068.4(AP2M1):c.508C>T:p.Arg170Trp	coding	Pathogenic/Likely_pathogenic
3	184242464	A	C	A184242464C	ALG3	NM_005787.6(ALG3):c.*50T>G	noncoding	Benign
3	184242559	C	T	C184242559T	ALG3	NM_005787.6(ALG3):c.1272G>A:p.Pro424=	coding	Benign/Likely_benign
3	184242560	G	A	G184242560A	ALG3	NM_005787.6(ALG3):c.1271C>T:p.Pro424Leu	coding	Benign/Likely_benign
3	184242568	C	T	C184242568T	ALG3	NM_005787.6(ALG3):c.1263G>A:p.Trp421Ter	coding	Pathogenic
3	184242930	T	C	T184242930C	ALG3	NM_005787.6(ALG3):c.1037A>G:p.Asn346Ser	coding	Pathogenic
3	184243572	G	A	G184243572A	ALG3	NM_005787.6(ALG3):c.991C>T:p.Gln331Ter	coding	Pathogenic
3	184243609	C	T	C184243609T	ALG3	NM_005787.6(ALG3):c.954G>A:p.Ser318=	coding	Benign
3	184244046	A	G	A184244046G	ALG3	NM_005787.6(ALG3):c.727-50T>C	noncoding	Benign
3	184245212	A	G	A184245212G	ALG3	NM_005787.6(ALG3):c.591T>C:p.Gly197=	coding	Benign
3	184245291	C	T	C184245291T	ALG3	NM_005787.6(ALG3):c.512G>A:p.Arg171Gln	coding	Pathogenic
3	184245333	A	T	A184245333T	ALG3	NM_005787.6(ALG3):c.470T>A:p.Met157Lys	coding	Pathogenic
3	184245559	C	T	C184245559T	ALG3	NM_005787.6(ALG3):c.353G>A:p.Gly118Asp	coding	Pathogenic
3	184245562	C	G	C184245562G	ALG3	NM_005787.6(ALG3):c.350G>C:p.Arg117Pro	coding	Pathogenic
3	184245593	T	C	T184245593C	ALG3	NM_005787.6(ALG3):c.319A>G:p.Ile107Val	coding	Benign/Likely_benign
3	184245723	C	T	C184245723T	ALG3	NM_005787.6(ALG3):c.286G>A:p.Gly96Arg	coding	Pathogenic
3	184245798	A	G	A184245798G	ALG3	NM_005787.6(ALG3):c.211T>C:p.Trp71Arg	coding	Pathogenic
3	184257656	T	C	T184257656C	ECE2;ALG3;EEF1AKMT4;EEF1AKMT4-ECE2	NM_032331.4(EEF1AKMT4):c.380T>C:p.Val127Ala	coding	Benign
3	184278307	T	C	T184278307C	ECE2;EEF1AKMT4-ECE2	NM_001100121.2(ECE2):c.744T>C:p.Val248=	coding	Benign
3	184285529	C	T	C184285529T	ECE2;EEF1AKMT4-ECE2	NM_001100121.2(ECE2):c.1200C>T:p.Ser400=	coding	Benign
3	184287931	G	A	G184287931A	ECE2;EEF1AKMT4-ECE2	NM_001100121.2(ECE2):c.1358G>A:p.Arg453Gln	coding	Benign
3	184321878	A	G	A184321878G	EIF4G1	NM_198241.3(EIF4G1):c.1294A>G:p.Met432Val	coding	Benign
3	184325848	C	T	C184325848T	EIF4G1	NM_198241.3(EIF4G1):c.3122-3C>T	noncoding	Benign
3	184328011	A	G	A184328011G	EIF4G1	NM_198241.3(EIF4G1):c.3953+9A>G	noncoding	Benign
3	184331594	C	T	C184331594T	EIF4G1	NM_198241.3(EIF4G1):c.4383C>T:p.Phe1461=	coding	Benign
3	184331611	G	A	G184331611A	EIF4G1	NM_198241.3(EIF4G1):c.4395+5G>A	noncoding	Benign
3	184331978	C	T	C184331978T	EIF4G1	NM_198241.3(EIF4G1):c.4510C>T:p.Leu1504=	coding	Benign
3	184332019	C	T	C184332019T	EIF4G1	NM_198241.3(EIF4G1):c.4551C>T:p.Asp1517=	coding	Benign
3	184346710	T	G	T184346710G	CLCN2	NM_004366.6(CLCN2):c.2593A>C:p.Ser865Arg	coding	Pathogenic
3	184352004	T	C	T184352004C	CLCN2	NM_004366.6(CLCN2):c.2415+9A>G	noncoding	Benign
3	184352435	A	C	A184352435C	CLCN2	NM_004366.6(CLCN2):c.2271+8T>G	noncoding	Benign/Likely_benign
3	184352781	G	A	G184352781A	CLCN2	NM_004366.6(CLCN2):c.2173C>T:p.Arg725Trp	coding	Benign/Likely_benign
3	184352800	C	G	C184352800G	CLCN2	NM_004366.6(CLCN2):c.2154G>C:p.Glu718Asp	coding	Benign
3	184352815	G	A	G184352815A	CLCN2	NM_004366.6(CLCN2):c.2144-5C>T	noncoding	Benign
3	184353113	C	T	C184353113T	CLCN2	NM_004366.6(CLCN2):c.2063G>A:p.Arg688Gln	coding	Benign
3	184353297	A	T	A184353297T	CLCN2	NM_004366.6(CLCN2):c.1981T>A:p.Ser661Thr	coding	Benign/Likely_benign
3	184353321	T	A	T184353321A	CLCN2	NM_004366.6(CLCN2):c.1957A>T:p.Arg653Ter	coding	Pathogenic
3	184354113	C	T	C184354113T	CLCN2	NM_004366.6(CLCN2):c.1709G>A:p.Trp570Ter	coding	Pathogenic
3	184354548	C	T	C184354548T	CLCN2	NM_004366.6(CLCN2):c.1507G>A:p.Gly503Arg	coding	Pathogenic
3	184354556	G	A	G184354556A	CLCN2	NM_004366.6(CLCN2):c.1499C>T:p.Ala500Val	coding	Pathogenic
3	184354594	C	A	C184354594A	CLCN2	NM_004366.6(CLCN2):c.1461G>T:p.Thr487=	coding	Benign
3	184354643	C	T	C184354643T	CLCN2	NM_004366.6(CLCN2):c.1412G>A:p.Arg471His	coding	Pathogenic
3	184354658	C	T	C184354658T	CLCN2	NM_004366.6(CLCN2):c.1397G>A:p.Gly466Glu	coding	Pathogenic
3	184354659	C	T	C184354659T	CLCN2	NM_004366.6(CLCN2):c.1397-1G>A	coding	Pathogenic
3	184355736	C	T	C184355736T	CLCN2	NM_004366.6(CLCN2):c.1128G>A:p.Thr376=	coding	Benign
3	184356994	T	A	T184356994A	CLCN2	NM_004366.6(CLCN2):c.1084A>T:p.Lys362Ter	coding	Pathogenic
3	184357063	C	G	C184357063G	CLCN2	NM_004366.6(CLCN2):c.1015G>C:p.Val339Leu	coding	Pathogenic
3	184357240	G	A	G184357240A	CLCN2	NM_004366.6(CLCN2):c.925C>T:p.Arg309Ter	coding	Pathogenic
3	184357838	C	T	C184357838T	CLCN2	NM_004366.6(CLCN2):c.634G>A:p.Ala212Thr	coding	Benign
3	184358062	C	T	C184358062T	CLCN2	NM_004366.6(CLCN2):c.515G>A:p.Arg172Gln	coding	Pathogenic
3	184358742	C	G	C184358742G	CLCN2	NM_004366.6(CLCN2):c.292G>C:p.Gly98Arg	coding	Pathogenic
3	184359052	G	C	G184359052C	CLCN2	NM_004366.6(CLCN2):c.143C>G:p.Pro48Arg	coding	Benign/Likely_benign
3	184359119	A	T	A184359119T	CLCN2	NM_004366.6(CLCN2):c.76T>A:p.Tyr26Asn	coding	Pathogenic
3	184359124	C	T	C184359124T	CLCN2	NM_004366.6(CLCN2):c.71G>A:p.Gly24Asp	coding	Pathogenic/Likely_pathogenic
3	184359130	A	T	A184359130T	CLCN2	NM_004366.6(CLCN2):c.65T>A:p.Met22Lys	coding	Pathogenic
3	184372031	T	A	T184372031A	THPO	NM_000460.4(THPO):c.*482A>T	noncoding	Benign
3	184372454	C	T	C184372454T	THPO	NM_000460.4(THPO):c.*59G>A	noncoding	Benign
3	184372478	C	T	C184372478T	THPO	NM_000460.4(THPO):c.*35G>A	noncoding	Benign
3	184372545	T	C	T184372545C	THPO	NM_000460.4(THPO):c.1030A>G:p.Thr344Ala	coding	Benign
3	184375917	G	A	G184375917A	THPO	NM_000460.4(THPO):c.112C>T:p.Arg38Cys	coding	Pathogenic
3	184376005	G	A	G184376005A	THPO	NM_000460.4(THPO):c.24C>T:p.Leu8=	coding	Benign/Likely_benign
3	184376395	A	G	A184376395G	THPO	NM_000460.4(THPO):c.-136T>C	coding	Benign
3	184382695	C	G	C184382695G	CHRD	NM_003741.3(CHRD):c.903C>G:p.Thr301=	coding	Benign
3	184383109	G	A	G184383109A	CHRD	NM_003741.3(CHRD):c.1159G>A:p.Gly387Ser	coding	Benign
3	184386051	G	A	G184386051A	CHRD	NM_003741.3(CHRD):c.1824G>A:p.Gln608=	coding	Benign
3	184387076	A	G	A184387076G	CHRD	NM_003741.3(CHRD):c.2316A>G:p.Pro772=	coding	Benign
3	184577143	G	A	G184577143A	EPHB3	NM_004443.4(EPHB3):c.1314G>A:p.Pro438=	coding	Benign
3	184578010	C	T	C184578010T	EPHB3	NM_004443.4(EPHB3):c.1748+4C>T	noncoding	Benign
3	184579829	T	C	T184579829C	EPHB3	NM_004443.4(EPHB3):c.2067T>C:p.Phe689=	coding	Benign
3	184855815	A	G	A184855815G	VPS8	NM_001009921.2(VPS8):c.1140A>G:p.Leu380=	coding	Benign
3	184920156	A	G	A184920156G	VPS8	NM_001009921.2(VPS8):c.2412A>G:p.Gln804=	coding	Benign
3	184930527	G	A	G184930527A	VPS8	NM_001009921.2(VPS8):c.2857G>A:p.Glu953Lys	coding	Benign
3	185048537	G	A	G185048537A	VPS8	NM_001009921.2(VPS8):c.4115G>A:p.Arg1372His	coding	Benign
3	185192254	A	G	A185192254G	EHHADH	NM_001966.4(EHHADH):c.2144T>C:p.Leu715Ser	coding	Benign
3	185192281	T	A	T185192281A	EHHADH	NM_001966.4(EHHADH):c.2117A>T:p.Asn706Ile	coding	Benign
3	185192332	A	G	A185192332G	EHHADH	NM_001966.4(EHHADH):c.2066T>C:p.Ile689Thr	coding	Benign
3	185192348	T	C	T185192348C	EHHADH	NM_001966.4(EHHADH):c.2050A>G:p.Arg684Gly	coding	Benign
3	185192490	T	C	T185192490C	EHHADH	NM_001966.4(EHHADH):c.1908A>G:p.Gly636=	coding	Benign
3	185192593	C	T	C185192593T	EHHADH	NM_001966.4(EHHADH):c.1805G>A:p.Arg602Gln	coding	Benign
3	185192950	C	T	C185192950T	EHHADH	NM_001966.4(EHHADH):c.1448G>A:p.Arg483Gln	coding	Benign
3	185193395	T	C	T185193395C	EHHADH	NM_001966.4(EHHADH):c.1003A>G:p.Thr335Ala	coding	Benign
3	185204409	G	T	G185204409T	EHHADH	NM_001966.4(EHHADH):c.910+7C>A	noncoding	Benign
3	185204465	T	C	T185204465C	EHHADH	NM_001966.4(EHHADH):c.861A>G:p.Ala287=	coding	Benign
3	185204479	T	C	T185204479C	EHHADH	NM_001966.4(EHHADH):c.847A>G:p.Thr283Ala	coding	Benign
3	185204543	T	C	T185204543C	EHHADH	NM_001966.4(EHHADH):c.783A>G:p.Gln261=	coding	Benign
3	185204563	G	C	G185204563C	EHHADH	NM_001966.4(EHHADH):c.763C>G:p.Leu255Val	coding	Benign
3	185204613	T	A	T185204613A	EHHADH	NM_001966.4(EHHADH):c.713A>T:p.Gln238Leu	coding	Benign/Likely_benign
3	185204718	A	C	A185204718C	EHHADH	NM_001966.4(EHHADH):c.608T>G:p.Ile203Ser	coding	Benign
3	185229445	G	A	G185229445A	EHHADH	NM_001966.4(EHHADH):c.450C>T:p.Asp150=	coding	Benign/Likely_benign
3	185235339	C	T	C185235339T	EHHADH	NM_001966.4(EHHADH):c.302G>A:p.Gly101Glu	coding	Benign
3	185248471	T	C	T185248471C	EHHADH	NM_001966.4(EHHADH):c.121A>G:p.Ile41Val	coding	Benign
3	185254016	C	T	C185254016T	EHHADH	NM_001966.4(EHHADH):c.7G>A:p.Glu3Lys	coding	Pathogenic
3	185465753	G	A	G185465753A	MAP3K13	NM_004721.5(MAP3K13):c.1395G>A:p.Ala465=	coding	Benign
3	185519286	G	T	G185519286T	LIPH	NM_139248.3(LIPH):c.742C>A:p.His248Asn	coding	Pathogenic
3	185519292	A	T	A185519292T	LIPH	NM_139248.3(LIPH):c.736T>A:p.Cys246Ser	coding	Pathogenic/Likely_pathogenic
3	185534854	G	A	G185534854A	LIPH	NM_139248.3(LIPH):c.328C>T:p.Arg110Ter	coding	Pathogenic
3	185534860	A	G	A185534860G	LIPH	NM_139248.3(LIPH):c.322T>C:p.Trp108Arg	coding	Pathogenic
3	185535061	C	T	C185535061T	LIPH	NM_139248.3(LIPH):c.121G>A:p.Val41Met	coding	Benign
3	185609340	A	G	A185609340G	SENP2	NM_021627.3(SENP2):c.712A>G:p.Asn238Asp	coding	Benign
3	186048726	C	T	C186048726T	ETV5	NM_004454.3(ETV5):c.1446G>A:p.Pro482=	coding	Benign
3	186048773	G	A	G186048773A	ETV5	NM_004454.3(ETV5):c.1399C>T:p.Leu467=	coding	Benign
3	186048777	C	T	C186048777T	ETV5	NM_004454.3(ETV5):c.1395G>A:p.Pro465=	coding	Benign
3	186080022	G	C	G186080022C	ETV5	NM_004454.3(ETV5):c.445C>G:p.Leu149Val	coding	Benign
3	186211795	C	T	C186211795T	DGKG	NM_001346.3(DGKG):c.1917G>A:p.Glu639=	coding	Benign
3	186288840	T	C	T186288840C	DGKG	NM_001346.3(DGKG):c.414A>G:p.Gln138=	coding	Benign
3	186539495	C	T	C186539495T	CRYGS	NM_017541.4(CRYGS):c.124G>A:p.Val42Met	coding	Pathogenic
3	186539503	G	C	G186539503C	CRYGS	NM_017541.4(CRYGS):c.116C>G:p.Ser39Cys	coding	Pathogenic
3	186539566	C	A	C186539566A	CRYGS	NM_017541.4(CRYGS):c.53G>T:p.Gly18Val	coding	Pathogenic
3	186539580	G	T	G186539580T	CRYGS	NM_017541.4(CRYGS):c.39C>A:p.Asp13Glu	coding	Benign
3	186539595	A	T	A186539595T	CRYGS	NM_017541.4(CRYGS):c.24T>A:p.Ile8=	coding	Benign
3	186554367	C	T	C186554367T	TBCCD1	NM_018138.5(TBCCD1):c.1431G>A:p.Gly477=	coding	Benign
3	186582011	C	T	C186582011T	DNAJB11	NM_016306.5(DNAJB11):c.616C>T:p.Arg206Ter	coding	Pathogenic
3	186613349	C	T	C186613349T	AHSG	NM_001622.4(AHSG):c.208C>T:p.Pro70Ser	coding	Benign
3	186614782	G	A	G186614782A	AHSG	NM_001622.4(AHSG):c.214-903G>A	noncoding	Benign
3	186617180	C	T	C186617180T	AHSG	NM_001622.4(AHSG):c.410-7C>T	noncoding	Benign
3	186617201	G	T	G186617201T	AHSG	NM_001622.4(AHSG):c.424G>T:p.Val142Leu	coding	Benign
3	186617287	C	T	C186617287T	AHSG	NM_001622.4(AHSG):c.510C>T:p.Ala170=	coding	Benign
3	186618647	C	A	C186618647A	AHSG	NM_001622.4(AHSG):c.675+10C>A	noncoding	Benign
3	186619924	T	C	T186619924C	AHSG	NM_001622.4(AHSG):c.743T>C:p.Met248Thr	coding	Benign
3	186620593	G	C	G186620593C	AHSG	NM_001622.4(AHSG):c.767G>C:p.Ser256Thr	coding	Benign
3	186620608	C	G	C186620608G	AHSG	NM_001622.4(AHSG):c.782C>G:p.Pro261Arg	coding	Benign
3	186620775	C	T	C186620775T	AHSG	NM_001622.4(AHSG):c.949C>T:p.Arg317Cys	coding	Benign
3	186620776	G	A	G186620776A	AHSG	NM_001622.4(AHSG):c.950G>A:p.Arg317His	coding	Pathogenic
3	186620845	G	A	G186620845A	AHSG	NM_001622.4(AHSG):c.1019G>A:p.Arg340His	coding	Benign
3	186640508	C	G	C186640508G	FETUB	NM_014375.3(FETUB):c.48C>G:p.Cys16Trp	coding	Benign
3	186640526	C	A	C186640526A	FETUB	NM_014375.3(FETUB):c.66C>A:p.Pro22=	coding	Benign
3	186641148	C	T	C186641148T	FETUB	NM_014375.3(FETUB):c.336+8C>T	noncoding	Benign
3	186644869	G	A	G186644869A	FETUB	NM_014375.3(FETUB):c.543G>A:p.Glu181=	coding	Benign
3	186646280	C	T	C186646280T	FETUB	NM_014375.3(FETUB):c.627C>T:p.Tyr209=	coding	Benign
3	186651249	G	A	G186651249A	FETUB	NM_014375.3(FETUB):c.728G>A:p.Arg243Gln	coding	Benign
3	186652418	T	C	T186652418C	FETUB	NM_014375.3(FETUB):c.936T>C:p.Asp312=	coding	Benign
3	186669022	C	T	C186669022T	HRG	NM_000412.4(HRG):c.271C>T:p.Pro91Ser	coding	Pathogenic/Likely_pathogenic
3	186669943	C	T	C186669943T	HRG	NM_000412.5(HRG):c.306C>T:p.Ile102=	coding	Benign
3	186669945	G	A	G186669945A	HRG	NM_000412.4(HRG):c.308G>A:p.Gly103Glu	coding	Pathogenic
3	186671624	C	A	C186671624A	HRG	NM_000412.5(HRG):c.393C>A:p.Val131=	coding	Benign
3	186672826	G	T	G186672826T	HRG	NM_000412.5(HRG):c.598G>T:p.Val200Leu	coding	Benign
3	186675150	C	T	C186675150T	HRG	NM_000412.5(HRG):c.701C>T:p.Pro234Leu	coding	Benign
3	186677154	T	C	T186677154C	HRG	NM_000412.5(HRG):c.849T>C:p.Ser283=	coding	Benign
3	186677257	C	T	C186677257T	HRG	NM_000412.5(HRG):c.952C>T:p.Pro318Ser	coding	Benign
3	186677267	C	T	C186677267T	HRG	NM_000412.5(HRG):c.962C>T:p.Pro321Leu	coding	Benign
3	186677356	C	A	C186677356A	HRG	NM_000412.5(HRG):c.1051C>A:p.Pro351Thr	coding	Benign
3	186677539	C	T	C186677539T	HRG	NM_000412.4(HRG):c.1234C>T:p.Gln412Ter	coding	Benign
3	186727258	C	T	C186727258T	KNG1	NM_001102416.3(KNG1):c.586C>T:p.Arg196Ter	coding	Pathogenic
3	186743735	C	T	C186743735T	KNG1	NM_001102416.3(KNG1):c.*1404C>T	coding	Benign
3	186853171	G	A	G186853171A	ADIPOQ	NM_004797.4(ADIPOQ):c.113G>A:p.Gly38Asp	coding	Benign
3	186854303	C	T	C186854303T	ADIPOQ	NM_004797.4(ADIPOQ):c.334C>T:p.Arg112Cys	coding	Pathogenic
3	187226434	T	C	T187226434C	MASP1	NM_001879.5(MASP1):c.1528A>G:p.Ser510Gly	coding	Benign
3	187235692	C	T	C187235692T	MASP1	NM_139125.4(MASP1):c.2179G>A:p.Glu727Lys	coding	Benign
3	187235812	C	T	C187235812T	MASP1	NM_139125.4(MASP1):c.2059G>A:p.Gly687Arg	coding	Pathogenic
3	187235874	C	T	C187235874T	MASP1	NM_139125.4(MASP1):c.1997G>A:p.Gly666Glu	coding	Pathogenic
3	187235940	G	A	G187235940A	MASP1	NM_139125.4(MASP1):c.1931C>T:p.Thr644Met	coding	Pathogenic
3	187235983	A	G	A187235983G	MASP1	NM_139125.4(MASP1):c.1888T>C:p.Cys630Arg	coding	Pathogenic
3	187236047	A	G	A187236047G	MASP1	NM_139125.4(MASP1):c.1824T>C:p.Ser608=	coding	Benign
3	187236092	C	T	C187236092T	MASP1	NM_139125.4(MASP1):c.1779G>A:p.Trp593Ter	coding	Pathogenic
3	187236125	C	T	C187236125T	MASP1	NM_139125.4(MASP1):c.1746G>A:p.Pro582=	coding	Benign
3	187236187	G	C	G187236187C	MASP1	NM_139125.4(MASP1):c.1684C>G:p.Pro562Ala	coding	Benign
3	187236319	C	T	C187236319T	MASP1	NM_139125.4(MASP1):c.1552G>A:p.Val518Ile	coding	Benign
3	187236382	G	A	G187236382A	MASP1	NM_139125.4(MASP1):c.1489C>T:p.His497Tyr	coding	Pathogenic
3	187236404	C	T	C187236404T	MASP1	NM_139125.4(MASP1):c.1467G>A:p.Ala489=	coding	Benign
3	187236485	C	T	C187236485T	MASP1	NM_139125.4(MASP1):c.1386G>A:p.Pro462=	coding	Benign
3	187241507	C	T	C187241507T	MASP1	NM_139125.4(MASP1):c.1277G>A:p.Gly426Glu	coding	Benign
3	187243560	G	A	G187243560A	MASP1	NM_139125.4(MASP1):c.1152C>T:p.Asn384=	coding	Benign
3	187250279	C	T	C187250279T	MASP1	NM_139125.4(MASP1):c.1062G>A:p.Thr354=	coding	Benign
3	187251732	G	A	G187251732A	MASP1	NM_139125.4(MASP1):c.913C>T:p.Gln305Ter	coding	Pathogenic
3	187253190	C	T	C187253190T	MASP1	NM_139125.4(MASP1):c.870G>A:p.Trp290Ter	coding	Pathogenic
3	187260778	G	A	G187260778A	MASP1	NM_139125.4(MASP1):c.510C>T:p.Phe170=	coding	Benign
3	187260871	A	G	A187260871G	MASP1	NM_139125.4(MASP1):c.417T>C:p.Asp139=	coding	Benign
3	187262722	T	A	T187262722A	MASP1	NM_139125.3(MASP1):c.238-2A>T	noncoding	Pathogenic
3	187262729	T	C	T187262729C	MASP1	NM_139125.4(MASP1):c.238-9A>G	noncoding	Benign
3	187285998	C	T	C187285998T	MASP1	NM_139125.4(MASP1):c.64G>A:p.Val22Met	coding	Benign
3	187669234	T	G	T187669234G	SST	NM_001048.4(SST):c.182A>C:p.Asn61Thr	coding	Benign
3	187669286	G	A	G187669286A	SST	NM_001048.4(SST):c.139-9C>T	noncoding	Benign
3	187722497	T	C	T187722497C	BCL6	NM_001706.5(BCL6):c.2082A>G:p.Ser694=	coding	Benign
3	187729778	G	A	G187729778A	BCL6	NM_001706.5(BCL6):c.627C>T:p.Ser209=	coding	Benign
3	187733525	T	A	T187733525A	BCL6	NM_001706.5(BCL6):c.161+8A>T	noncoding	Benign
3	187733550	C	T	C187733550T	BCL6	NM_001706.5(BCL6):c.144G>A:p.Thr48=	coding	Benign
3	188609319	C	T	C188609319T	LPP	NM_001167672.3(LPP):c.588C>T:p.Ile196=	coding	Benign
3	188609506	T	C	T188609506C	LPP	NM_001167672.3(LPP):c.672+103T>C	coding	Benign
3	188708296	G	A	G188708296A	LPP	NM_001167672.3(LPP):c.702G>A:p.Ser234=	coding	Benign
3	188760231	G	A	G188760231A	LPP	NM_001167672.3(LPP):c.918G>A:p.Gly306=	coding	Benign
3	188760267	C	T	C188760267T	LPP	NM_001167672.3(LPP):c.954C>T:p.Cys318=	coding	Benign
3	189631458	A	T	A189631458T	TP63	NM_003722.5(TP63):c.-58A>T	noncoding	Benign
3	189737892	T	C	T189737892C	TP63	NM_003722.5(TP63):c.191+24T>C	noncoding	Benign
3	189738739	C	T	C189738739T	TP63	NM_003722.5(TP63):c.289C>T:p.Arg97Cys	coding	Pathogenic
3	189789801	A	G	A189789801G	TP63	NM_003722.5(TP63):c.325-18471A>G	coding	Pathogenic
3	189789816	A	C	A189789816C	TP63	NM_003722.5(TP63):c.325-18456A>C	coding	Pathogenic
3	189808313	G	A	G189808313A	TP63	NM_003722.5(TP63):c.366G>A:p.Gln122=	coding	Benign
3	189808346	C	T	C189808346T	TP63	NM_003722.5(TP63):c.399C>T:p.Pro133=	coding	Benign/Likely_benign
3	189808464	G	C	G189808464C	TP63	NM_003722.5(TP63):c.517G>C:p.Gly173Arg	coding	Pathogenic/Likely_pathogenic
3	189808465	G	A	G189808465A	TP63	NM_003722.5(TP63):c.518G>A:p.Gly173Asp	coding	Pathogenic
3	189808465	G	T	G189808465T	TP63	NM_003722.5(TP63):c.518G>T:p.Gly173Val	coding	Pathogenic
3	189808494	C	T	C189808494T	TP63	NM_003722.5(TP63):c.547C>T:p.Gln183Ter	coding	Pathogenic
3	189864325	A	G	A189864325G	TP63	NM_003722.5(TP63):c.673A>G:p.Ile225Val	coding	Benign
3	189864346	A	G	A189864346G	TP63	NM_003722.5(TP63):c.694A>G:p.Lys232Glu	coding	Pathogenic
3	189864349	A	G	A189864349G	TP63	NM_003722.5(TP63):c.697A>G:p.Lys233Glu	coding	Pathogenic
3	189864379	C	T	C189864379T	TP63	NM_003722.5(TP63):c.727C>T:p.Arg243Trp	coding	Pathogenic
3	189864380	G	A	G189864380A	TP63	NM_003722.5(TP63):c.728G>A:p.Arg243Gln	coding	Pathogenic
3	189864391	C	T	C189864391T	TP63	NM_003722.5(TP63):c.739C>T:p.His247Tyr	coding	Pathogenic/Likely_pathogenic
3	189864392	A	G	A189864392G	TP63	NM_003722.5(TP63):c.740A>G:p.His247Arg	coding	Pathogenic
3	189864452	T	G	T189864452G	TP63	NM_003722.5(TP63):c.766+34T>G	noncoding	Benign
3	189864460	G	A	G189864460A	TP63	NM_003722.5(TP63):c.766+42G>A	noncoding	Benign
3	189866712	G	A	G189866712A	TP63	NM_003722.5(TP63):c.797G>A:p.Arg266Gln	coding	Pathogenic
3	189866774	C	T	C189866774T	TP63	NM_003722.5(TP63):c.859C>T:p.Leu287=	coding	Benign
3	189867885	G	A	G189867885A	TP63	NM_003722.5(TP63):c.935G>A:p.Cys312Tyr	coding	Pathogenic
3	189867902	C	T	C189867902T	TP63	NM_003722.5(TP63):c.952C>T:p.Arg318Cys	coding	Pathogenic
3	189867903	G	A	G189867903A	TP63	NM_003722.5(TP63):c.953G>A:p.Arg318His	coding	Pathogenic
3	189867905	C	T	C189867905T	TP63	NM_003722.5(TP63):c.955C>T:p.Arg319Cys	coding	Pathogenic
3	189867906	G	A	G189867906A	TP63	NM_003722.5(TP63):c.956G>A:p.Arg319His	coding	Pathogenic
3	189867946	A	C	A189867946C	TP63	NM_003722.5(TP63):c.992+4A>C	noncoding	Benign/Likely_benign
3	189868596	C	G	C189868596G	TP63	NM_003722.5(TP63):c.1009C>G:p.Arg337Gly	coding	Pathogenic
3	189868597	G	A	G189868597A	TP63	NM_003722.5(TP63):c.1010G>A:p.Arg337Gln	coding	Pathogenic
3	189868614	C	T	C189868614T	TP63	NM_003722.5(TP63):c.1027C>T:p.Arg343Trp	coding	Pathogenic
3	189868615	G	A	G189868615A	TP63	NM_003722.5(TP63):c.1028G>A:p.Arg343Gln	coding	Pathogenic
3	189868620	T	C	T189868620C	TP63	NM_003722.5(TP63):c.1033T>C:p.Cys345Arg	coding	Pathogenic
3	189868624	C	G	C189868624G	TP63	NM_003722.5(TP63):c.1037C>G:p.Ala346Gly	coding	Pathogenic
3	189868627	G	T	G189868627T	TP63	NM_003722.5(TP63):c.1040G>T:p.Cys347Phe	coding	Pathogenic
3	189868639	A	G	A189868639G	TP63	NM_003722.5(TP63):c.1052A>G:p.Asp351Gly	coding	Pathogenic
3	189868641	A	G	A189868641G	TP63	NM_003722.5(TP63):c.1054A>G:p.Arg352Gly	coding	Pathogenic
3	189868650	G	A	G189868650A	TP63	NM_003722.5(TP63):c.1063G>A:p.Asp355Asn	coding	Pathogenic
3	189869302	A	G	A189869302G	TP63	NM_003722.5(TP63):c.1130-22A>G	noncoding	Benign
3	189873035	G	C	G189873035C	TP63	NM_003722.5(TP63):c.1349+40G>C	noncoding	Benign
3	189873036	G	A	G189873036A	TP63	NM_003722.5(TP63):c.1349+41G>A	noncoding	Benign
3	189886360	T	G	T189886360G	TP63	NM_003722.5(TP63):c.1350-34T>G	noncoding	Benign
3	189886371	T	C	T189886371C	TP63	NM_003722.5(TP63):c.1350-23T>C	noncoding	Benign
3	189886392	A	G	A189886392G	TP63	NM_003722.5(TP63):c.1350-2A>G	noncoding	Pathogenic
3	189889363	C	A	C189889363A	TP63	NM_003722.5(TP63):c.1531C>A:p.Pro511Thr	coding	Benign/Likely_benign
3	189889419	C	T	C189889419T	TP63	NM_003722.5(TP63):c.1587C>T:p.Leu529=	coding	Benign/Likely_benign
3	189889478	T	C	T189889478C	TP63	NM_003722.5(TP63):c.1646T>C:p.Ile549Thr	coding	Pathogenic
3	189889498	A	C	A189889498C	TP63	NM_003722.5(TP63):c.1652+14A>C	noncoding	Benign/Likely_benign
3	189890795	A	T	A189890795T	TP63	NM_003722.5(TP63):c.1659A>T:p.Leu553Phe	coding	Pathogenic
3	189890829	T	G	T189890829G	TP63	NM_003722.5(TP63):c.1693T>G:p.Phe565Val	coding	Pathogenic
3	189890863	T	C	T189890863C	TP63	NM_003722.5(TP63):c.1727T>C:p.Ile576Thr	coding	Pathogenic
3	189890874	T	C	T189890874C	TP63	NM_003722.5(TP63):c.1738T>C:p.Ser580Pro	coding	Pathogenic
3	189894239	C	T	C189894239T	TP63	NM_003722.5(TP63):c.1780C>T:p.Arg594Ter	coding	Pathogenic
3	189894247	G	A	G189894247A	TP63	NM_003722.5(TP63):c.1788G>A:p.Ala596=	coding	Benign
3	189894249	T	C	T189894249C	TP63	NM_003722.5(TP63):c.1790T>C:p.Ile597Thr	coding	Pathogenic
3	189894253	G	A	G189894253A	TP63	NM_003722.5(TP63):c.1794G>A:p.Trp598Ter	coding	Pathogenic
3	189894547	C	T	C189894547T	TP63	NM_003722.5(TP63):c.*45C>T	noncoding	Benign
3	189894881	T	A	T189894881A	TP63	NM_003722.5(TP63):c.*379T>A	noncoding	Benign/Likely_benign
3	189894937	C	T	C189894937T	TP63	NM_003722.5(TP63):c.*435C>T	noncoding	Benign
3	189894973	A	T	A189894973T	TP63	NM_003722.5(TP63):c.*471A>T	noncoding	Benign/Likely_benign
3	189895043	G	A	G189895043A	TP63	NM_003722.5(TP63):c.*541G>A	noncoding	Benign
3	189895356	A	G	A189895356G	TP63	NM_003722.5(TP63):c.*854A>G	noncoding	Benign/Likely_benign
3	189895845	T	C	T189895845C	TP63	NM_003722.5(TP63):c.*1343T>C	noncoding	Benign/Likely_benign
3	189895888	T	C	T189895888C	TP63	NM_003722.5(TP63):c.*1386T>C	noncoding	Benign
3	189895966	G	T	G189895966T	TP63	NM_003722.5(TP63):c.*1464G>T	noncoding	Benign/Likely_benign
3	189896122	T	C	T189896122C	TP63	NM_003722.5(TP63):c.*1620T>C	noncoding	Benign/Likely_benign
3	189896504	T	G	T189896504G	TP63	NM_003722.5(TP63):c.*2002T>G	noncoding	Benign/Likely_benign
3	189896518	A	G	A189896518G	TP63	NM_003722.5(TP63):c.*2016A>G	noncoding	Benign/Likely_benign
3	189896625	C	T	C189896625T	TP63	NM_003722.5(TP63):c.*2123C>T	noncoding	Benign/Likely_benign
3	189896641	G	A	G189896641A	TP63	NM_003722.5(TP63):c.*2139G>A	noncoding	Benign/Likely_benign
3	189896718	G	A	G189896718A	TP63	NM_003722.5(TP63):c.*2216G>A	noncoding	Benign
3	189896820	G	A	G189896820A	TP63	NM_003722.5(TP63):c.*2318G>A	noncoding	Benign/Likely_benign
3	189896847	C	T	C189896847T	TP63	NM_003722.5(TP63):c.*2345C>T	noncoding	Benign
3	189896979	T	G	T189896979G	TP63	NM_003722.5(TP63):c.*2477T>G	noncoding	Benign/Likely_benign
3	189897127	A	T	A189897127T	TP63	NM_003722.5(TP63):c.*2625A>T	noncoding	Benign/Likely_benign
3	189897291	A	G	A189897291G	TP63	NM_003722.4(TP63):c.*2789A>G	noncoding	Benign
3	189971900	G	A	G189971900A	P3H2	NM_018192.4(P3H2):c.1807C>T:p.Arg603Ter	coding	Pathogenic
3	189971900	G	T	G189971900T	P3H2	NM_018192.4(P3H2):c.1807C>A:p.Arg603=	coding	Benign
3	189972889	G	A	G189972889A	P3H2	NM_018192.4(P3H2):c.1684C>T:p.Arg562Ter	coding	Pathogenic
3	189973934	C	A	C189973934A	P3H2	NM_018192.4(P3H2):c.1523G>T:p.Gly508Val	coding	Pathogenic
3	189974551	T	A	T189974551A	P3H2	NM_018192.4(P3H2):c.1452+7A>T	noncoding	Benign
3	189974557	C	A	C189974557A	P3H2	NM_018192.4(P3H2):c.1452+1G>T	noncoding	Pathogenic
3	189984566	G	A	G189984566A	P3H2	NM_018192.4(P3H2):c.1213C>T:p.Arg405Ter	coding	Pathogenic
3	189986807	C	T	C189986807T	P3H2	NM_018192.4(P3H2):c.1169G>A:p.Gly390Glu	coding	Benign
3	189987653	T	C	T189987653C	P3H2	NM_018192.4(P3H2):c.972A>G:p.Lys324=	coding	Benign
3	189994221	G	A	G189994221A	P3H2	NM_018192.4(P3H2):c.696C>T:p.His232=	coding	Benign
3	189995311	G	A	G189995311A	P3H2	NM_018192.4(P3H2):c.612C>T:p.Asp204=	coding	Benign
3	189995367	G	A	G189995367A	P3H2	NM_018192.4(P3H2):c.556C>T:p.Gln186Ter	coding	Pathogenic
3	189995416	T	C	T189995416C	P3H2	NM_018192.4(P3H2):c.507A>G:p.Glu169=	coding	Benign
3	189995445	A	G	A189995445G	P3H2	NM_018192.4(P3H2):c.481-3T>C	noncoding	Benign
3	190120356	G	A	G190120356A	P3H2	NM_018192.4(P3H2):c.376C>T:p.Gln126Ter	coding	Pathogenic
3	190312890	C	T	C190312890T	CLDN1	NM_021101.5(CLDN1):c.370G>A:p.Ala124Thr	coding	Benign
3	190312891	A	G	A190312891G	CLDN1	NM_021101.5(CLDN1):c.369T>C:p.Gly123=	coding	Benign
3	190322015	G	T	G190322015T	CLDN1	NM_021101.5(CLDN1):c.192C>A:p.Cys64Ter	coding	Pathogenic/Likely_pathogenic
3	190322060	C	T	C190322060T	CLDN1	NM_021101.5(CLDN1):c.147G>A:p.Gly49=	coding	Benign
3	190322099	G	A	G190322099A	CLDN1	NM_021101.5(CLDN1):c.108C>T:p.Ala36=	coding	Benign
3	190322192	C	T	C190322192T	CLDN1	NM_021101.5(CLDN1):c.15G>A:p.Gly5=	coding	Benign
3	190322219	C	G	C190322219G	CLDN1	NM_021101.5(CLDN1):c.-13G>C	noncoding	Benign
3	190388285	G	C	G190388285C	CLDN16	NM_006580.3(CLDN16):c.166G>C:p.Ala56Pro	coding	Benign
3	190388331	T	G	T190388331G	CLDN16	NM_006580.3(CLDN16):c.212T>G:p.Met71Arg	coding	Pathogenic
3	190388374	C	G	C190388374G	CLDN16	NM_006580.3(CLDN16):c.255C>G:p.Phe85Leu	coding	Benign
3	190388453	T	C	T190388453C	CLDN16	NM_006580.3(CLDN16):c.324+10T>C	noncoding	Benign
3	190402362	G	A	G190402362A	CLDN16	NM_006580.3(CLDN16):c.350G>A:p.Trp117Ter	coding	Pathogenic
3	190402387	T	C	T190402387C	CLDN16	NM_006580.3(CLDN16):c.375T>C:p.Phe125=	coding	Benign
3	190402428	C	T	C190402428T	CLDN16	NM_006580.3(CLDN16):c.416C>T:p.Ala139Val	coding	Pathogenic
3	190404768	T	C	T190404768C	CLDN16	NM_006580.3(CLDN16):c.434T>C:p.Leu145Pro	coding	Pathogenic
3	190404779	C	T	C190404779T	CLDN16	NM_006580.3(CLDN16):c.445C>T:p.Arg149Ter	coding	Pathogenic
3	190404786	T	G	T190404786G	CLDN16	NM_006580.3(CLDN16):c.452T>G:p.Leu151Trp	coding	Pathogenic
3	190404787	G	T	G190404787T	CLDN16	NM_006580.3(CLDN16):c.453G>T:p.Leu151Phe	coding	Pathogenic
3	190404834	T	C	T190404834C	CLDN16	NM_006580.3(CLDN16):c.500T>C:p.Leu167Pro	coding	Pathogenic
3	190404905	G	A	G190404905A	CLDN16	NM_006580.3(CLDN16):c.571G>A:p.Gly191Arg	coding	Pathogenic
3	190408314	G	A	G190408314A	CLDN16	NM_006580.3(CLDN16):c.593G>A:p.Gly198Asp	coding	Pathogenic
3	190408323	G	A	G190408323A	CLDN16	NM_006580.3(CLDN16):c.602G>A:p.Gly201Glu	coding	Pathogenic
3	190408368	G	A	G190408368A	CLDN16	NM_006580.4(CLDN16):c.437G>A:p.Arg146His	coding	Pathogenic
3	190408416	T	G	T190408416G	CLDN16	NM_006580.3(CLDN16):c.695T>G:p.Phe232Cys	coding	Pathogenic/Likely_pathogenic
3	190408419	G	A	G190408419A	CLDN16	NM_006580.3(CLDN16):c.698G>A:p.Gly233Asp	coding	Pathogenic
3	190408425	C	T	C190408425T	CLDN16	NM_006580.3(CLDN16):c.704C>T:p.Ser235Phe	coding	Pathogenic
3	190408436	G	A	G190408436A	CLDN16	NM_006580.3(CLDN16):c.715G>A:p.Gly239Arg	coding	Pathogenic
3	190408463	T	C	T190408463C	CLDN16	NM_006580.3(CLDN16):c.742T>C:p.Leu248=	coding	Benign
3	190409941	A	T	A190409941T	CLDN16	NM_006580.3(CLDN16):c.823A>T:p.Lys275Ter	coding	Pathogenic
3	190409948	A	G	A190409948G	CLDN16	NM_006580.3(CLDN16):c.830A>G:p.Tyr277Cys	coding	Benign
3	190409949	T	G	T190409949G	CLDN16	NM_006580.3(CLDN16):c.831T>G:p.Tyr277Ter	coding	Pathogenic
3	190409954	C	A	C190409954A	CLDN16	NM_006580.3(CLDN16):c.836C>A:p.Ala279Asp	coding	Benign/Likely_benign
3	190410026	C	G	C190410026G	CLDN16	NM_006580.3(CLDN16):c.908C>G:p.Thr303Arg	coding	Pathogenic
3	190410240	C	T	C190410240T	CLDN16	NM_006580.3(CLDN16):c.*204C>T	noncoding	Benign
3	190410279	C	T	C190410279T	CLDN16	NM_006580.3(CLDN16):c.*243C>T	noncoding	Benign
3	190410830	T	C	T190410830C	CLDN16	NM_006580.3(CLDN16):c.*794T>C	noncoding	Benign
3	190410878	C	T	C190410878T	CLDN16	NM_006580.3(CLDN16):c.*842C>T	noncoding	Benign
3	190410943	A	G	A190410943G	CLDN16	NM_006580.3(CLDN16):c.*907A>G	noncoding	Benign
3	190411270	A	C	A190411270C	CLDN16	NM_006580.4(CLDN16):c.*1234A>C	noncoding	Benign
3	190411489	G	C	G190411489C	CLDN16	NM_006580.3(CLDN16):c.*1453G>C	noncoding	Benign
3	190411799	T	A	T190411799A	CLDN16	NM_006580.3(CLDN16):c.*1763T>A	noncoding	Benign
3	190411815	A	C	A190411815C	CLDN16	NM_006580.3(CLDN16):c.*1779A>C	noncoding	Benign
3	190411869	G	A	G190411869A	CLDN16	NM_006580.4(CLDN16):c.*1833G>A	noncoding	Benign
3	190412134	T	G	T190412134G	CLDN16	NM_006580.3(CLDN16):c.*2098T>G	noncoding	Benign
3	190604213	T	C	T190604213C	IL1RAP	NM_002182.4(IL1RAP):c.150T>C:p.Phe50=	coding	Benign
3	190627396	C	T	C190627396T	IL1RAP	NM_002182.4(IL1RAP):c.849C>T:p.Thr283=	coding	Benign
3	190629458	C	A	C190629458A	IL1RAP	NM_002182.4(IL1RAP):c.1011C>A:p.Ala337=	coding	Benign
3	190656067	G	A	G190656067A	IL1RAP	NM_001167931.2(IL1RAP):c.1524G>A:p.Pro508=	coding	Benign
3	190656441	A	G	A190656441G	IL1RAP	NM_001167931.2(IL1RAP):c.1898A>G:p.Asn633Ser	coding	Benign
3	191218788	A	G	A191218788G	OSTN	NM_198184.2(OSTN):c.144A>G:p.Thr48=	coding	Benign
3	191329743	A	G	A191329743G	CCDC50	NM_178335.3(CCDC50):c.49+20A>G	noncoding	Benign
3	191357084	C	G	C191357084G	CCDC50	NM_178335.3(CCDC50):c.50-4C>G	noncoding	Benign
3	191358113	C	T	C191358113T	CCDC50	NM_178335.3(CCDC50):c.228C>T:p.Arg76=	coding	Benign
3	191369951	A	T	A191369951T	CCDC50	NM_178335.3(CCDC50):c.363A>T:p.Leu121Phe	coding	Benign
3	191375239	C	T	C191375239T	CCDC50	NM_178335.3(CCDC50):c.626C>T:p.Ser209Leu	coding	Benign/Likely_benign
3	191375264	T	C	T191375264C	CCDC50	NM_178335.3(CCDC50):c.651T>C:p.His217=	coding	Benign
3	191375291	A	G	A191375291G	CCDC50	NM_178335.3(CCDC50):c.678A>G:p.Lys226=	coding	Benign
3	191375386	T	A	T191375386A	CCDC50	NM_178335.3(CCDC50):c.773T>A:p.Ile258Asn	coding	Benign
3	191375434	G	A	G191375434A	CCDC50	NM_178335.3(CCDC50):c.821G>A:p.Arg274Gln	coding	Benign
3	191375496	G	T	G191375496T	CCDC50	NM_178335.3(CCDC50):c.883G>T:p.Asp295Tyr	coding	Benign
3	191375521	A	G	A191375521G	CCDC50	NM_178335.3(CCDC50):c.908A>G:p.Lys303Arg	coding	Benign
3	191375595	A	G	A191375595G	CCDC50	NM_178335.3(CCDC50):c.976+6A>G	noncoding	Benign
3	191380116	C	T	C191380116T	CCDC50	NM_178335.3(CCDC50):c.977-43C>T	noncoding	Benign
3	191380177	T	C	T191380177C	CCDC50	NM_178335.3(CCDC50):c.995T>C:p.Met332Thr	coding	Benign
3	191380750	C	G	C191380750G	CCDC50	NM_178335.3(CCDC50):c.1137+19C>G	noncoding	Benign
3	191380871	A	G	A191380871G	CCDC50	NM_178335.3(CCDC50):c.1181A>G:p.Lys394Arg	coding	Benign
3	191380893	A	G	A191380893G	CCDC50	NM_178335.3(CCDC50):c.1203A>G:p.Lys401=	coding	Benign/Likely_benign
3	191380942	G	A	G191380942A	CCDC50	NM_178335.3(CCDC50):c.1242+10G>A	noncoding	Benign
3	191382772	C	A	C191382772A	CCDC50	NM_178335.3(CCDC50):c.1269C>A:p.Ser423=	coding	Benign
3	191382779	A	G	A191382779G	CCDC50	NM_178335.3(CCDC50):c.1276A>G:p.Lys426Glu	coding	Benign/Likely_benign
3	191382853	A	T	A191382853T	CCDC50	NM_178335.3(CCDC50):c.1322+28A>T	noncoding	Benign
3	191389569	C	T	C191389569T	CCDC50	NM_178335.3(CCDC50):c.1396C>T:p.Arg466Trp	coding	Benign
3	191389656	C	T	C191389656T	CCDC50	NM_178335.3(CCDC50):c.1429+54C>T	noncoding	Benign
3	192144126	C	T	C192144126T	FGF12	NM_021032.4(FGF12):c.615G>A:p.Val205=	coding	Benign
3	192170666	A	G	A192170666G	FGF12	NM_021032.4(FGF12):c.415-10T>C	noncoding	Benign
3	192335434	C	T	C192335434T	FGF12	NM_004113.6(FGF12):c.155G>A:p.Arg52His	coding	Pathogenic
3	192408161	G	A	G192408161A	FGF12	NM_021032.4(FGF12):c.63C>T:p.Ser21=	coding	Benign
3	193263133	G	A	G193263133A	PLAAT1	NM_020386.5(PLAAT1):c.303G>A:p.Arg101=	coding	Benign
3	193363248	C	T	C193363248T	ATP13A5	NM_198505.4(ATP13A5):c.372G>A:p.Lys124=	coding	Benign
3	193402670	G	A	G193402670A	ATP13A4	NM_032279.4(ATP13A4):c.3573C>T:p.Ser1191=	coding	Benign
3	193402746	G	A	G193402746A	ATP13A4	NM_032279.4(ATP13A4):c.3497C>T:p.Pro1166Leu	coding	Benign
3	193402838	C	T	C193402838T	ATP13A4	NM_032279.4(ATP13A4):c.3405G>A:p.Leu1135=	coding	Benign
3	193414646	G	A	G193414646A	ATP13A4	NM_032279.4(ATP13A4):c.2947C>T:p.Leu983=	coding	Benign
3	193440596	C	T	C193440596T	ATP13A4	NM_032279.4(ATP13A4):c.2481G>A:p.Gly827=	coding	Benign
3	193454190	T	A	T193454190A	ATP13A4	NM_032279.4(ATP13A4):c.1938A>T:p.Glu646Asp	coding	Benign
3	193454207	T	C	T193454207C	ATP13A4	NM_032279.4(ATP13A4):c.1921A>G:p.Thr641Ala	coding	Benign
3	193467341	G	A	G193467341A	ATP13A4	NM_032279.4(ATP13A4):c.1089C>T:p.Thr363=	coding	Benign
3	193593206	T	A	T193593206A	OPA1	NC_000003.12:g.193593206T>A	noncoding	Benign
3	193614733	C	A	C193614733A	OPA1	NM_015560.2(OPA1):c.43C>A:p.Gln15Lys	coding	Benign
3	193614802	C	T	C193614802T	OPA1	NM_015560.2(OPA1):c.112C>T:p.Arg38Ter	coding	Pathogenic/Likely_pathogenic
3	193614844	C	T	C193614844T	OPA1	NM_130837.3(OPA1):c.154C>T:p.Arg52Ter	coding	Pathogenic
3	193614943	C	T	C193614943T	OPA1	NM_015560.2(OPA1):c.253C>T:p.Arg85Cys	coding	Benign/Likely_benign
3	193614944	G	A	G193614944A	OPA1	NM_015560.2(OPA1):c.254G>A:p.Arg85His	coding	Benign
3	193615011	G	A	G193615011A	OPA1	NM_015560.2(OPA1):c.321G>A:p.Ser107=	coding	Benign
3	193615742	G	T	G193615742T	OPA1	NM_015560.2(OPA1):c.420G>T:p.Val140=	coding	Benign
3	193615820	A	G	A193615820G	OPA1	NM_015560.2(OPA1):c.448+50A>G	noncoding	Benign
3	193617157	A	G	A193617157G	OPA1	NM_015560.2(OPA1):c.449-21A>G	noncoding	Benign
3	193617202	G	A	G193617202A	OPA1	NM_015560.2(OPA1):c.473G>A:p.Ser158Asn	coding	Benign
3	193617262	T	A	T193617262A	OPA1	NM_130831.3(OPA1):c.448+1492T>A	coding	Pathogenic
3	193617286	G	A	G193617286A	OPA1	NM_130836.3(OPA1):c.556+1G>A	coding	Pathogenic
3	193617463	G	T	G193617463T	OPA1	NM_015560.2(OPA1):c.556+178G>T	noncoding	Benign
3	193618636	T	C	T193618636C	OPA1	NM_015560.2(OPA1):c.557-233T>C	coding	Benign
3	193618850	T	C	T193618850C	OPA1	NM_015560.2(OPA1):c.557-19T>C	coding	Benign
3	193618887	C	T	C193618887T	OPA1	NM_015560.2(OPA1):c.575C>T:p.Ala192Val	coding	Benign
3	193618938	T	G	T193618938G	OPA1	NM_015560.2(OPA1):c.624+2T>G	noncoding	Pathogenic
3	193618949	G	C	G193618949C	OPA1	NM_130837.3(OPA1):c.678+13G>C	noncoding	Benign
3	193619232	G	A	G193619232A	OPA1	NM_015560.2(OPA1):c.624+296G>A	noncoding	Benign
3	193626084	C	T	C193626084T	OPA1	NM_015560.2(OPA1):c.625-5528C>T	noncoding	Benign
3	193635426	T	G	T193635426G	OPA1	NM_015560.2(OPA1):c.687T>G:p.Tyr229Ter	coding	Pathogenic
3	193635442	C	T	C193635442T	OPA1	NM_015560.2(OPA1):c.703C>T:p.Arg235Ter	coding	Pathogenic
3	193635467	T	A	T193635467A	OPA1	NM_015560.2(OPA1):c.728T>A:p.Leu243Ter	coding	Pathogenic
3	193635476	T	G	T193635476G	OPA1	NM_130837.3(OPA1):c.902T>G:p.Leu301Ter	coding	Pathogenic
3	193637184	A	C	A193637184C	OPA1	NM_015560.2(OPA1):c.784-11A>C	noncoding	Benign/Likely_benign
3	193637194	G	C	G193637194C	OPA1	NM_130837.3(OPA1):c.949-1G>C	noncoding	Pathogenic
3	193637280	G	A	G193637280A	OPA1	NM_015560.2(OPA1):c.869G>A:p.Arg290Gln	coding	Pathogenic
3	193637282	G	A	G193637282A	OPA1	NM_015560.2(OPA1):c.870+1G>A	coding	Pathogenic
3	193637285	T	C	T193637285C	OPA1	NM_130837.3(OPA1):c.1035+4T>C	noncoding	Benign
3	193637286	G	A	G193637286A	OPA1	NM_015560.2(OPA1):c.870+5G>A	noncoding	Pathogenic/Likely_pathogenic
3	193637313	T	C	T193637313C	OPA1	NM_015560.2(OPA1):c.870+32T>C	noncoding	Benign
3	193637318	A	C	A193637318C	OPA1	NM_015560.2(OPA1):c.870+37A>C	noncoding	Benign
3	193637951	G	A	G193637951A	OPA1	NM_015560.2(OPA1):c.871-1G>A	noncoding	Pathogenic
3	193637980	G	A	G193637980A	OPA1	NM_015560.2(OPA1):c.899G>A:p.Gly300Glu	coding	Pathogenic
3	193638064	A	G	A193638064G	OPA1	NM_015560.2(OPA1):c.983A>G:p.Lys328Arg	coding	Pathogenic
3	193642763	A	G	A193642763G	OPA1	NM_015560.2(OPA1):c.985-2A>G	noncoding	Pathogenic
3	193642764	G	A	G193642764A	OPA1	NM_015560.2(OPA1):c.985-1G>A	noncoding	Pathogenic
3	193642846	G	A	G193642846A	OPA1	NM_130837.3(OPA1):c.1230+1G>A	coding	Pathogenic
3	193642846	G	T	G193642846T	OPA1	NM_015560.2(OPA1):c.1065+1G>T	coding	Pathogenic
3	193642980	A	G	A193642980G	OPA1	NM_015560.2(OPA1):c.1071A>G:p.Ala357=	coding	Benign/Likely_benign
3	193643005	C	T	C193643005T	OPA1	NM_015560.2(OPA1):c.1096C>T:p.Arg366Ter	coding	Pathogenic
3	193643046	T	G	T193643046G	OPA1	NM_015560.2(OPA1):c.1137T>G:p.Pro379=	coding	Benign/Likely_benign
3	193643050	G	A	G193643050A	OPA1	NM_015560.2(OPA1):c.1140+1G>A	coding	Pathogenic
3	193643409	A	C	A193643409C	OPA1	NM_015560.2(OPA1):c.1177A>C:p.Arg393=	coding	Benign
3	193643419	T	A	T193643419A	OPA1	NM_015560.2(OPA1):c.1187T>A:p.Leu396His	coding	Pathogenic
3	193643419	T	G	T193643419G	OPA1	NM_130831.3(OPA1):c.1079T>G:p.Leu360Arg	coding	Pathogenic
3	193643430	C	T	C193643430T	OPA1	NM_015560.2(OPA1):c.1198C>T:p.Pro400Ser	coding	Pathogenic
3	193643434	G	A	G193643434A	OPA1	NM_015560.2(OPA1):c.1202G>A:p.Gly401Asp	coding	Pathogenic
3	193643436	G	A	G193643436A	OPA1	NM_015560.2(OPA1):c.1204G>A:p.Val402Met	coding	Pathogenic
3	193643449	G	T	G193643449T	OPA1	NM_015560.2(OPA1):c.1212+5G>T	noncoding	Pathogenic
3	193643454	T	C	T193643454C	OPA1	NM_015560.2(OPA1):c.1212+10T>C	noncoding	Benign/Likely_benign
3	193643609	A	G	A193643609G	OPA1	NM_015560.2(OPA1):c.1294A>G:p.Ile432Val	coding	Pathogenic
3	193643625	A	G	A193643625G	OPA1	NM_015560.2(OPA1):c.1310A>G:p.Gln437Arg	coding	Pathogenic
3	193643975	A	T	A193643975T	OPA1	NM_130837.3(OPA1):c.1478A>T:p.Asp493Val	coding	Pathogenic
3	193643978	G	T	G193643978T	OPA1	NM_015560.2(OPA1):c.1316G>T:p.Gly439Val	coding	Pathogenic
3	193643996	G	A	G193643996A	OPA1	NM_015560.2(OPA1):c.1334G>A:p.Arg445His	coding	Pathogenic
3	193643996	G	C	G193643996C	OPA1	NM_015560.2(OPA1):c.1334G>C:p.Arg445Pro	coding	Pathogenic
3	193644008	C	G	C193644008G	OPA1	NM_015560.2(OPA1):c.1346C>G:p.Thr449Arg	coding	Pathogenic
3	193644400	G	A	G193644400A	OPA1	NM_015560.2(OPA1):c.1443+295G>A	noncoding	Benign
3	193645374	G	A	G193645374A	OPA1	NM_015560.2(OPA1):c.1444-179G>A	noncoding	Benign
3	193645626	G	C	G193645626C	OPA1	NM_015560.2(OPA1):c.1516+1G>C	coding	Pathogenic
3	193645626	G	T	G193645626T	OPA1	NM_015560.2(OPA1):c.1516+1G>T	coding	Pathogenic
3	193645760	G	T	G193645760T	OPA1	NM_015560.2(OPA1):c.1549G>T:p.Glu517Ter	coding	Pathogenic
3	193645906	G	A	G193645906A	OPA1	NM_015560.2(OPA1):c.1589+106G>A	noncoding	Benign
3	193646065	A	G	A193646065G	OPA1	NM_015560.2(OPA1):c.1589+265A>G	noncoding	Benign
3	193647076	T	G	T193647076G	OPA1	NM_015560.2(OPA1):c.1601T>G:p.Leu534Arg	coding	Pathogenic
3	193647083	A	C	A193647083C	OPA1	NM_015560.2(OPA1):c.1608A>C:p.Ala536=	coding	Benign
3	193647110	C	A	C193647110A	OPA1	NM_015560.2(OPA1):c.1635C>A:p.Ser545Arg	coding	Pathogenic
3	193647110	C	G	C193647110G	OPA1	NM_015560.2(OPA1):c.1635C>G:p.Ser545Arg	coding	Pathogenic
3	193647127	G	A	G193647127A	OPA1	NM_015560.2(OPA1):c.1652G>A:p.Cys551Tyr	coding	Pathogenic
3	193647144	C	T	C193647144T	OPA1	NM_015560.2(OPA1):c.1669C>T:p.Arg557Ter	coding	Pathogenic
3	193647181	G	T	G193647181T	OPA1	NM_015560.2(OPA1):c.1705+1G>T	coding	Pathogenic
3	193648098	G	A	G193648098A	OPA1	NM_130837.3(OPA1):c.1899G>A:p.Trp633Ter	coding	Pathogenic
3	193648109	A	G	A193648109G	OPA1	NM_015560.2(OPA1):c.1745A>G:p.Tyr582Cys	coding	Pathogenic
3	193648135	G	C	G193648135C	OPA1	NM_130837.3(OPA1):c.1935+1G>C	coding	Pathogenic
3	193648137	A	G	A193648137G	OPA1	NM_015560.2(OPA1):c.1770+3A>G	noncoding	Benign
3	193648150	T	G	T193648150G	OPA1	NM_015560.2(OPA1):c.1770+16T>G	noncoding	Benign
3	193648793	A	G	A193648793G	OPA1	NM_015560.2(OPA1):c.1771-2A>G	noncoding	Pathogenic
3	193648872	G	C	G193648872C	OPA1	NM_015560.2(OPA1):c.1847+1G>C	coding	Pathogenic
3	193654898	A	G	A193654898G	OPA1	NM_015560.2(OPA1):c.1884A>G:p.Val628=	coding	Benign/Likely_benign
3	193655028	G	A	G193655028A	OPA1	NM_015560.2(OPA1):c.2013+1G>A	coding	Pathogenic
3	193656999	G	T	G193656999T	OPA1	NM_015560.2(OPA1):c.2014-81G>T	noncoding	Benign
3	193657175	T	C	T193657175C	OPA1	NM_015560.2(OPA1):c.2109T>C:p.Ala703=	coding	Benign
3	193657197	C	T	C193657197T	OPA1	NM_015560.2(OPA1):c.2131C>T:p.Arg711Ter	coding	Pathogenic/Likely_pathogenic
3	193658917	C	T	C193658917T	OPA1	NM_015560.2(OPA1):c.2197C>T:p.Arg733Ter	coding	Pathogenic
3	193658977	C	T	C193658977T	OPA1	NM_015560.2(OPA1):c.2257C>T:p.Gln753Ter	coding	Pathogenic
3	193659248	G	A	G193659248A	OPA1	NM_015560.2(OPA1):c.2276-234G>A	noncoding	Benign
3	193659384	T	C	T193659384C	OPA1	NM_015560.2(OPA1):c.2276-98T>C	noncoding	Benign
3	193659540	G	A	G193659540A	OPA1	NM_015560.2(OPA1):c.2334G>A:p.Trp778Ter	coding	Pathogenic
3	193659562	G	A	G193659562A	OPA1	NM_015560.2(OPA1):c.2355+1G>A	coding	Pathogenic
3	193662936	C	T	C193662936T	OPA1	NM_015560.2(OPA1):c.2470C>T:p.Arg824Ter	coding	Pathogenic
3	193662963	G	A	G193662963A	OPA1	NM_130837.3(OPA1):c.2661+1G>A	coding	Pathogenic
3	193662963	G	T	G193662963T	OPA1	NM_015560.2(OPA1):c.2496+1G>T	coding	Pathogenic
3	193663268	C	T	C193663268T	OPA1	NM_015560.2(OPA1):c.2496+306C>T	noncoding	Benign
3	193664952	C	T	C193664952T	OPA1	NM_015560.2(OPA1):c.2569C>T:p.Arg857Ter	coding	Pathogenic
3	193664969	C	G	C193664969G	OPA1	NM_015560.2(OPA1):c.2586C>G:p.Tyr862Ter	coding	Pathogenic
3	193665007	C	G	C193665007G	OPA1	NM_015560.2(OPA1):c.2613+11C>G	noncoding	Benign
3	193666287	A	G	A193666287G	OPA1	NM_130837.3(OPA1):c.2779-9A>G	noncoding	Pathogenic
3	193667168	A	G	A193667168G	OPA1	NM_015560.2(OPA1):c.2708-2A>G	noncoding	Pathogenic
3	193667177	A	G	A193667177G	OPA1	NM_015560.2(OPA1):c.2715A>G:p.Arg905=	coding	Benign/Likely_benign
3	193667191	T	A	T193667191A	OPA1	NM_015560.2(OPA1):c.2729T>A:p.Val910Asp	coding	Pathogenic
3	193667258	C	T	C193667258T	OPA1	NM_015560.2(OPA1):c.2796C>T:p.Arg932=	coding	Benign/Likely_benign
3	193667270	G	A	G193667270A	OPA1	NM_015560.2(OPA1):c.2808G>A:p.Ala936=	coding	Benign
3	193691813	G	A	G193691813A	OPA1	NM_015560.2(OPA1):c.2819-250G>A	noncoding	Benign
3	193691937	T	C	T193691937C	OPA1	NM_015560.2(OPA1):c.2819-126T>C	noncoding	Benign
3	193692059	A	G	A193692059G	OPA1	NM_015560.2(OPA1):c.2819-4A>G	noncoding	Benign
3	193694820	A	G	A193694820G	OPA1	NM_015560.2(OPA1):c.*220A>G	noncoding	Benign
3	193694828	A	G	A193694828G	OPA1	NM_130837.3(OPA1):c.*228A>G	noncoding	Benign
3	193694883	A	G	A193694883G	OPA1	NM_015560.2(OPA1):c.*283A>G	noncoding	Benign
3	193694976	A	G	A193694976G	OPA1	NM_015560.2(OPA1):c.*376A>G	noncoding	Benign
3	193695160	T	C	T193695160C	OPA1	NM_015560.2(OPA1):c.*560T>C	noncoding	Benign
3	193695223	G	A	G193695223A	OPA1	NM_015560.2(OPA1):c.*623G>A	noncoding	Benign
3	193695631	A	T	A193695631T	OPA1	NM_015560.2(OPA1):c.*1031A>T	noncoding	Benign
3	193695713	C	T	C193695713T	OPA1	NM_015560.2(OPA1):c.*1113C>T	noncoding	Benign
3	193695943	A	G	A193695943G	OPA1	NM_015560.2(OPA1):c.*1343A>G	noncoding	Benign
3	193696025	G	A	G193696025A	OPA1	NM_015560.2(OPA1):c.*1425G>A	noncoding	Benign
3	193696210	C	A	C193696210A	OPA1	NM_015560.2(OPA1):c.*1610C>A	noncoding	Benign
3	193696692	C	T	C193696692T	OPA1	NM_015560.2(OPA1):c.*2092C>T	noncoding	Benign
3	193696715	G	A	G193696715A	OPA1	NM_015560.2(OPA1):c.*2115G>A	noncoding	Benign
3	193696886	T	C	T193696886C	OPA1	NM_015560.2(OPA1):c.*2286T>C	noncoding	Benign
3	193696944	A	G	A193696944G	OPA1	NM_015560.2(OPA1):c.*2344A>G	noncoding	Benign
3	193696991	T	C	T193696991C	OPA1	NM_015560.2(OPA1):c.*2391T>C	noncoding	Benign
3	193697008	A	G	A193697008G	OPA1	NM_015560.2(OPA1):c.*2408A>G	noncoding	Benign
3	193697473	A	T	A193697473T	OPA1	NM_015560.2(OPA1):c.*2873A>T	noncoding	Benign
3	193697593	C	A	C193697593A	OPA1	NM_015560.2(OPA1):c.*2993C>A	noncoding	Benign
3	193697627	A	G	A193697627G	OPA1	NM_015560.2(OPA1):c.*3027A>G	noncoding	Benign
3	194137678	C	T	C194137678T	HES1	NM_005524.4(HES1):c.293-5C>T	noncoding	Benign
3	194341948	G	A	G194341948A	CPN2	NM_001080513.4(CPN2):c.755C>T:p.Ala252Val	coding	Benign
3	194342661	G	C	G194342661C	CPN2	NM_001080513.4(CPN2):c.42C>G:p.Leu14=	coding	Benign
3	194359460	G	A	G194359460A	LRRC15	NM_130830.5(LRRC15):c.1584C>T:p.Ser528=	coding	Benign
3	194359595	A	T	A194359595T	LRRC15	NM_130830.5(LRRC15):c.1449T>A:p.Ser483Arg	coding	Benign
3	194397310	G	A	G194397310A	GP5	NM_004488.2(GP5):c.973C>T:p.Pro325Ser	coding	Benign
3	194438977	A	G	A194438977G	ATP13A3	NM_001367549.1(ATP13A3):c.1711-5T>C	noncoding	Benign
3	194648745	C	T	C194648745T	LSG1	NM_018385.3(LSG1):c.1479G>A:p.Thr493=	coding	Benign
3	194687573	G	T	G194687573T	FAM43A	NM_153690.5(FAM43A):c.747G>T:p.Lys249Asn	coding	Benign
3	194687715	G	A	G194687715A	FAM43A	NM_153690.5(FAM43A):c.889G>A:p.Glu297Lys	coding	Benign
3	195069856	C	T	C195069856T	XXYLT1	NM_152531.5(XXYLT1):c.1041G>A:p.Val347=	coding	Benign
3	195579418	A	G	A195579418G	APOD	NM_001647.4(APOD):c.44T>C:p.Phe15Ser	coding	Benign
3	195750908	G	A	G195750908A	MUC4	NM_018406.7(MUC4):c.15852C>T:p.Asp5284=	coding	Benign
3	195750916	C	T	C195750916T	MUC4	NM_018406.7(MUC4):c.15844G>A:p.Gly5282Arg	coding	Benign
3	195864185	C	T	C195864185T	TNK2	NM_005781.4(TNK2):c.3113G>A:p.Arg1038His	coding	Benign
3	195867585	C	T	C195867585T	TNK2	NM_005781.4(TNK2):c.2668G>A:p.Val890Met	coding	Benign/Likely_benign
3	195867934	A	G	A195867934G	TNK2	NM_005781.4(TNK2):c.2319T>C:p.Ala773=	coding	Benign
3	195868079	G	A	G195868079A	TNK2	NM_005781.4(TNK2):c.2174C>T:p.Pro725Leu	coding	Benign
3	195868183	C	T	C195868183T	TNK2	NM_005781.4(TNK2):c.2070G>A:p.Pro690=	coding	Benign
3	195868521	C	T	C195868521T	TNK2	NM_005781.4(TNK2):c.1732G>A:p.Val578Met	coding	Benign
3	195868534	G	A	G195868534A	TNK2	NM_005781.4(TNK2):c.1719C>T:p.Phe573=	coding	Benign
3	195879148	G	A	G195879148A	TNK2	NM_005781.4(TNK2):c.915C>T:p.Arg305=	coding	Benign
3	195882172	G	A	G195882172A	TNK2	NM_005781.4(TNK2):c.766C>T:p.Arg256Cys	coding	Benign
3	195884917	G	A	G195884917A	TNK2	NM_005781.4(TNK2):c.351C>T:p.Leu117=	coding	Benign
3	195884973	G	A	G195884973A	TNK2	NM_005781.4(TNK2):c.295C>T:p.Arg99Trp	coding	Benign
3	195888505	A	G	A195888505G	TNK2	NM_005781.4(TNK2):c.84T>C:p.Asp28=	coding	Benign
3	196058287	G	A	G196058287A	TFRC	NM_001128148.3(TFRC):c.1674C>T:p.Cys558=	coding	Benign
3	196058621	C	T	C196058621T	TFRC	NM_001128148.3(TFRC):c.1548G>A:p.Pro516=	coding	Benign
3	196060213	C	T	C196060213T	TFRC	NM_001128148.3(TFRC):c.1503G>A:p.Leu501=	coding	Benign
3	196060231	C	T	C196060231T	TFRC	NM_001128148.3(TFRC):c.1485G>A:p.Lys495=	coding	Benign
3	196064369	C	T	C196064369T	TFRC	NM_001128148.3(TFRC):c.1258G>A:p.Gly420Ser	coding	Benign
3	196065442	C	A	C196065442A	TFRC	NM_001128148.3(TFRC):c.1198+1G>T	noncoding	Pathogenic
3	196068122	A	G	A196068122G	TFRC	NM_001128148.3(TFRC):c.810T>C:p.Asn270=	coding	Benign
3	196074052	G	A	G196074052A	TFRC	NM_001128148.3(TFRC):c.312C>T:p.Thr104=	coding	Benign
3	196217893	C	T	C196217893T	SLC51A	NM_152672.6(SLC51A):c.90C>T:p.Ser30=	coding	Benign
3	196238796	G	C	G196238796C	PCYT1A	NM_001312673.2(PCYT1A):c.996C>G:p.Pro332=	coding	Benign
3	196239597	G	A	G196239597A	PCYT1A	NM_001312673.2(PCYT1A):c.847C>T:p.Arg283Ter	coding	Pathogenic
3	196241987	C	G	C196241987G	PCYT1A	NM_001312673.2(PCYT1A):c.669G>C:p.Arg223Ser	coding	Pathogenic
3	196242085	A	G	A196242085G	PCYT1A	NM_001312673.2(PCYT1A):c.571T>C:p.Phe191Leu	coding	Pathogenic
3	196247375	C	T	C196247375T	PCYT1A	NM_001312673.2(PCYT1A):c.478G>A:p.Glu160Lys	coding	Benign
3	196247405	G	C	G196247405C	PCYT1A	NM_001312673.2(PCYT1A):c.448C>G:p.Pro150Ala	coding	Pathogenic
3	196247468	C	T	C196247468T	PCYT1A	NM_001312673.2(PCYT1A):c.385G>A:p.Glu129Lys	coding	Pathogenic
3	196248245	G	A	G196248245A	PCYT1A	NM_001312673.2(PCYT1A):c.296C>T:p.Ala99Val	coding	Pathogenic
3	196248246	C	T	C196248246T	PCYT1A	NM_001312673.2(PCYT1A):c.295G>A:p.Ala99Thr	coding	Pathogenic
3	196257893	G	A	G196257893A	PCYT1A	NM_001312673.2(PCYT1A):c.118-6C>T	noncoding	Benign
3	196270474	C	G	C196270474G	PCYT1A	NM_001312673.2(PCYT1A):c.58G>C:p.Gly20Arg	coding	Benign
3	196306939	T	A	T196306939A	DYNLT2B	NM_152773.5(DYNLT2B):c.317+4A>T	noncoding	Pathogenic
3	196306998	G	A	G196306998A	DYNLT2B	NM_152773.5(DYNLT2B):c.262C>T:p.Arg88Ter	coding	Pathogenic
3	196318038	G	C	G196318038C	DYNLT2B	NM_152773.5(DYNLT2B):c.113+2C>G	noncoding	Pathogenic
3	196318096	C	T	C196318096T	DYNLT2B	NM_152773.5(DYNLT2B):c.57G>A:p.Glu19=	coding	Benign
3	196472054	G	A	G196472054A	RNF168	NM_152617.4(RNF168):c.1481C>T:p.Pro494Leu	coding	Benign
3	196472251	T	C	T196472251C	RNF168	NM_152617.4(RNF168):c.1284A>G:p.Lys428=	coding	Benign
3	196472257	G	A	G196472257A	RNF168	NM_152617.4(RNF168):c.1278C>T:p.Thr426=	coding	Benign
3	196472298	C	T	C196472298T	RNF168	NM_152617.4(RNF168):c.1237G>A:p.Glu413Lys	coding	Benign
3	196472333	G	T	G196472333T	RNF168	NM_152617.4(RNF168):c.1202C>A:p.Pro401Gln	coding	Benign
3	196472375	T	C	T196472375C	RNF168	NM_152617.4(RNF168):c.1160A>G:p.Lys387Arg	coding	Benign
3	196472403	A	G	A196472403G	RNF168	NM_152617.4(RNF168):c.1132T>C:p.Cys378Arg	coding	Benign
3	196472563	C	T	C196472563T	RNF168	NM_152617.4(RNF168):c.972G>A:p.Glu324=	coding	Benign
3	196472671	T	C	T196472671C	RNF168	NM_152617.4(RNF168):c.864A>G:p.Gln288=	coding	Benign
3	196487449	C	T	C196487449T	RNF168	NM_152617.4(RNF168):c.508G>A:p.Glu170Lys	coding	Benign/Likely_benign
3	196487458	C	T	C196487458T	RNF168	NM_152617.4(RNF168):c.499G>A:p.Ala167Thr	coding	Benign
3	196569017	C	T	C196569017T	FBXO45	NM_001105573.2(FBXO45):c.33C>T:p.Ala11=	coding	Benign
3	196569245	G	C	G196569245C	FBXO45	NM_001105573.2(FBXO45):c.261G>C:p.Leu87=	coding	Benign
3	196569275	G	C	G196569275C	FBXO45	NM_001105573.2(FBXO45):c.291G>C:p.Leu97=	coding	Benign
3	196654568	T	C	T196654568C	NRROS	NM_198565.3(NRROS):c.29T>C:p.Leu10Pro	coding	Pathogenic
3	196660187	C	A	C196660187A	NRROS	NM_198565.3(NRROS):c.544C>A:p.Arg182Ser	coding	Benign
3	196661420	C	T	C196661420T	NRROS	NM_198565.3(NRROS):c.1777C>T:p.Gln593Ter	coding	Pathogenic
3	196661531	G	A	G196661531A	NRROS	NM_198565.3(NRROS):c.1888G>A:p.Val630Met	coding	Benign
3	196661545	C	T	C196661545T	NRROS	NM_198565.3(NRROS):c.1902C>T:p.Pro634=	coding	Benign
3	196707572	T	C	T196707572C	CEP19	NM_032898.5(CEP19):c.471A>G:p.Thr157=	coding	Benign
3	196707772	C	G	C196707772G	CEP19	NM_032898.5(CEP19):c.271G>C:p.Glu91Gln	coding	Benign
3	196707824	T	C	T196707824C	CEP19	NM_032898.5(CEP19):c.219A>G:p.Leu73=	coding	Benign
3	196707875	C	T	C196707875T	CEP19	NM_032898.5(CEP19):c.168G>A:p.Pro56=	coding	Benign
3	196708668	A	G	A196708668G	CEP19	NM_032898.5(CEP19):c.-11T>C	coding	Benign
3	196885322	A	G	A196885322G	SENP5	NM_152699.5(SENP5):c.141A>G:p.Pro47=	coding	Benign
3	196885429	A	G	A196885429G	SENP5	NM_152699.5(SENP5):c.248A>G:p.Asn83Ser	coding	Benign
3	196886230	G	A	G196886230A	SENP5	NM_152699.5(SENP5):c.1049G>A:p.Gly350Asp	coding	Benign
3	196930805	T	C	T196930805C	SENP5	NM_152699.5(SENP5):c.2158-8T>C	noncoding	Benign
3	197027797	C	T	C197027797T	MELTF	NM_005929.6(MELTF):c.163G>A:p.Val55Ile	coding	Benign
3	197081057	A	C	A197081057C	DLG1	NM_004087.2(DLG1):c.1998T>G:p.Asp666Glu	coding	Benign
3	197115960	A	G	A197115960G	DLG1	NM_004087.2(DLG1):c.1509T>C:p.Ser503=	coding	Benign
3	197138319	C	T	C197138319T	DLG1	NM_004087.2(DLG1):c.885G>A:p.Ala295=	coding	Benign
3	197149779	T	A	T197149779A	DLG1	NM_001366207.1(DLG1):c.501A>T:p.Val167=	coding	Benign
3	197512183	G	A	G197512183A	BDH1	NM_203314.3(BDH1):c.744C>T:p.Tyr248=	coding	Benign
3	197512284	C	T	C197512284T	BDH1	NM_203314.3(BDH1):c.643G>A:p.Val215Ile	coding	Benign
3	197514412	C	T	C197514412T	BDH1	NM_203314.3(BDH1):c.414G>A:p.Met138Ile	coding	Benign
3	197532502	C	G	C197532502G	BDH1	NM_203314.3(BDH1):c.177G>C:p.Leu59=	coding	Benign
3	197533514	C	T	C197533514T	BDH1	NM_203314.3(BDH1):c.131G>A:p.Arg44Gln	coding	Benign
3	197675520	G	A	G197675520A	RUBCN	NM_014687.4(RUBCN):c.2647-5C>T	noncoding	Benign
3	197683316	G	A	G197683316A	RUBCN	NM_014687.4(RUBCN):c.1971C>T:p.Ala657=	coding	Benign
3	197700825	C	T	C197700825T	RUBCN	NM_014687.4(RUBCN):c.1049G>A:p.Ser350Asn	coding	Benign
3	197700835	C	T	C197700835T	RUBCN	NM_014687.4(RUBCN):c.1039G>A:p.Glu347Lys	coding	Benign
3	197701031	A	T	A197701031T	RUBCN	NM_014687.4(RUBCN):c.843T>A:p.Ser281=	coding	Benign
3	197701049	G	A	G197701049A	RUBCN	NM_014687.4(RUBCN):c.825C>T:p.Ala275=	coding	Benign
3	197701050	G	A	G197701050A	RUBCN	NM_014687.4(RUBCN):c.824C>T:p.Ala275Val	coding	Benign
3	197703554	C	T	C197703554T	RUBCN	NM_014687.4(RUBCN):c.564G>A:p.Ala188=	coding	Benign
3	197705128	C	T	C197705128T	RUBCN	NM_014687.4(RUBCN):c.267G>A:p.Arg89=	coding	Benign
3	197912700	T	G	T197912700G	IQCG	NM_032263.5(IQCG):c.938A>C:p.Glu313Ala	coding	Benign
3	197943835	G	C	G197943835C	IQCG	NM_032263.5(IQCG):c.225C>G:p.Leu75=	coding	Benign
3	197950933	A	G	A197950933G	RPL35A	NM_000996.4(RPL35A):c.-32-3A>G	noncoding	Benign
3	197951168	C	T	C197951168T	RPL35A	NM_000996.4(RPL35A):c.21C>T:p.Ser7=	coding	Benign/Likely_benign
3	197951244	G	A	G197951244A	RPL35A	NM_000996.4(RPL35A):c.97G>A:p.Val33Ile	coding	Pathogenic
3	197954050	G	A	G197954050A	RPL35A	NM_000996.4(RPL35A):c.212G>A:p.Trp71Ter	coding	Pathogenic
3	197954104	G	A	G197954104A	RPL35A	NM_000996.4(RPL35A):c.266G>A:p.Arg89Gln	coding	Benign
3	197954142	C	T	C197954142T	RPL35A	NM_000996.4(RPL35A):c.304C>T:p.Arg102Ter	coding	Pathogenic
3	197955779	C	T	C197955779T	RPL35A	NM_000996.4(RPL35A):c.*6C>T	noncoding	Benign/Likely_benign
3	197955787	C	A	C197955787A	RPL35A	NM_000996.4(RPL35A):c.*14C>A	noncoding	Benign
3	197974368	T	A	T197974368A	LMLN	NM_001136049.2(LMLN):c.220-9T>A	noncoding	Benign
3	197976118	C	G	C197976118G	LMLN	NM_001136049.2(LMLN):c.431+7C>G	noncoding	Benign
3	197996207	T	A	T197996207A	LMLN	NM_001136049.2(LMLN):c.1080T>A:p.Val360=	coding	Benign
4	500399	C	A	C500399A	PIGG	NM_001127178.3(PIGG):c.158C>A:p.Ala53Asp	coding	Benign/Likely_benign
4	500405	C	A	C500405A	PIGG	NM_001127178.3(PIGG):c.164C>A:p.Ser55Tyr	coding	Benign/Likely_benign
4	505710	G	T	G505710T	PIGG	NM_001127178.3(PIGG):c.361-8G>T	noncoding	Benign
4	505855	G	A	G505855A	PIGG	NM_001127178.3(PIGG):c.498G>A:p.Trp166Ter	coding	Pathogenic
4	508840	G	A	G508840A	PIGG	NM_001127178.3(PIGG):c.771G>A:p.Thr257=	coding	Benign
4	508952	G	T	G508952T	PIGG	NM_001127178.3(PIGG):c.883G>T:p.Ala295Ser	coding	Benign
4	515981	C	T	C515981T	PIGG	NM_001127178.3(PIGG):c.910C>T:p.Arg304Ter	coding	Pathogenic
4	515999	C	T	C515999T	PIGG	NM_001127178.3(PIGG):c.928C>T:p.Gln310Ter	coding	Pathogenic
4	516061	T	C	T516061C	PIGG	NM_001127178.3(PIGG):c.990T>C:p.Ser330=	coding	Benign
4	516193	A	G	A516193G	PIGG	NM_001127178.3(PIGG):c.1114+8A>G	noncoding	Benign
4	516194	A	G	A516194G	PIGG	NM_001127178.3(PIGG):c.1114+9A>G	noncoding	Benign
4	521104	G	A	G521104A	PIGG	NM_001127178.3(PIGG):c.1163G>A:p.Trp388Ter	coding	Pathogenic
4	521195	G	A	G521195A	PIGG	NM_001127178.3(PIGG):c.1254G>A:p.Thr418=	coding	Benign
4	521842	G	A	G521842A	PIGG	NM_001127178.3(PIGG):c.1515G>A:p.Trp505Ter	coding	Pathogenic
4	521847	C	T	C521847T	PIGG	NM_001127178.3(PIGG):c.1520C>T:p.Ala507Val	coding	Benign
4	521908	C	T	C521908T	PIGG	NM_001127178.3(PIGG):c.1581C>T:p.Thr527=	coding	Benign
4	521921	G	C	G521921C	PIGG	NM_001127178.3(PIGG):c.1594G>C:p.Gly532Arg	coding	Benign
4	521950	G	A	G521950A	PIGG	NM_001127178.3(PIGG):c.1614+9G>A	coding	Benign
4	523774	G	A	G523774A	PIGG	NM_001127178.3(PIGG):c.1930G>A:p.Glu644Lys	coding	Benign
4	523811	C	T	C523811T	PIGG	NM_001127178.3(PIGG):c.1967C>T:p.Ala656Val	coding	Benign
4	523922	G	T	G523922T	PIGG	NM_001127178.3(PIGG):c.2069+9G>T	noncoding	Benign
4	527054	C	T	C527054T	PIGG	NM_001127178.3(PIGG):c.2085C>T:p.Ala695=	coding	Benign
4	527119	C	A	C527119A	PIGG	NM_001127178.3(PIGG):c.2150C>A:p.Ser717Tyr	coding	Benign
4	527160	G	A	G527160A	PIGG	NM_001127178.3(PIGG):c.2191G>A:p.Val731Ile	coding	Benign
4	527231	G	C	G527231C	PIGG	NM_001127178.3(PIGG):c.2261+1G>C	coding	Pathogenic
4	530453	G	A	G530453A	PIGG	NM_001127178.3(PIGG):c.2279G>A:p.Arg760His	coding	Benign
4	530743	C	T	C530743T	PIGG	NM_001127178.3(PIGG):c.2569C>T:p.Gln857Ter	coding	Pathogenic/Likely_pathogenic
4	539186	C	T	C539186T	PIGG	NM_001127178.3(PIGG):c.2769C>T:p.Tyr923=	coding	Benign
4	625652	G	A	G625652A	PDE6B	NM_000283.3(PDE6B):c.26G>A:p.Arg9Gln	coding	Benign
4	625727	C	T	C625727T	PDE6B	NM_000283.3(PDE6B):c.101C>T:p.Ala34Val	coding	Benign
4	625749	G	A	G625749A	PDE6B	NM_000283.3(PDE6B):c.123G>A:p.Pro41=	coding	Benign/Likely_benign
4	625769	G	A	G625769A	PDE6B	NM_000283.3(PDE6B):c.143G>A:p.Arg48Gln	coding	Benign/Likely_benign
4	625771	G	T	G625771T	PDE6B	NM_000283.3(PDE6B):c.145G>T:p.Asp49Tyr	coding	Benign/Likely_benign
4	625917	C	A	C625917A	PDE6B	NM_000283.3(PDE6B):c.291C>A:p.Tyr97Ter	coding	Pathogenic
4	625969	C	G	C625969G	PDE6B	NM_000283.3(PDE6B):c.343C>G:p.Pro115Ala	coding	Benign
4	625999	C	G	C625999G	PDE6B	NM_000283.3(PDE6B):c.373C>G:p.Pro125Ala	coding	Benign
4	626010	C	T	C626010T	PDE6B	NM_000283.3(PDE6B):c.384C>T:p.Ser128=	coding	Benign
4	626054	C	A	C626054A	PDE6B	NM_000283.3(PDE6B):c.428C>A:p.Ala143Asp	coding	Pathogenic
4	634791	A	T	A634791T	PDE6B	NM_000283.3(PDE6B):c.583A>T:p.Lys195Ter	coding	Pathogenic
4	634818	G	T	G634818T	PDE6B	NM_000283.4(PDE6B):c.610G>T:p.Glu204Ter	coding	Pathogenic
4	653866	G	A	G653866A	PDE6B	NM_000283.3(PDE6B):c.726G>A:p.Ser242=	coding	Benign
4	653912	C	A	C653912A	PDE6B	NM_001145292.1(PDE6B):c.-66C>A	coding	Pathogenic
4	653950	C	A	C653950A	PDE6B	NM_000283.4(PDE6B):c.810C>A:p.Cys270Ter	coding	Pathogenic
4	654100	T	C	T654100C	PDE6B	NM_000283.3(PDE6B):c.873T>C:p.Ser291=	coding	Benign/Likely_benign
4	654113	G	T	G654113T	PDE6B	NM_000283.3(PDE6B):c.886G>T:p.Glu296Ter	coding	Pathogenic/Likely_pathogenic
4	654119	C	T	C654119T	PDE6B	NM_000283.3(PDE6B):c.892C>T:p.Gln298Ter	coding	Pathogenic
4	654142	G	A	G654142A	PDE6B	NM_000283.3(PDE6B):c.915G>A:p.Thr305=	coding	Benign/Likely_benign
4	654854	G	A	G654854A	PDE6B	NM_001350155.2(PDE6B):c.-83G>A	coding	Benign
4	655957	A	G	A655957G	PDE6B	NM_000283.4(PDE6B):c.1010A>G:p.His337Arg	coding	Pathogenic
4	656015	C	G	C656015G	PDE6B	NM_000283.3(PDE6B):c.1059+9C>G	noncoding	Benign
4	656244	G	T	G656244T	PDE6B	NM_000283.3(PDE6B):c.1060-1G>T	noncoding	Pathogenic
4	657373	G	A	G657373A	PDE6B	NM_000283.3(PDE6B):c.1280G>A:p.Trp427Ter	coding	Pathogenic
4	657483	C	T	C657483T	PDE6B	NM_000283.3(PDE6B):c.1390C>T:p.Gln464Ter	coding	Pathogenic
4	657496	T	G	T657496G	PDE6B	NM_000283.3(PDE6B):c.1401+2T>G	noncoding	Pathogenic
4	659018	G	C	G659018C	PDE6B	NM_000283.3(PDE6B):c.1467+1G>C	coding	Pathogenic
4	659035	G	A	G659035A	PDE6B	NM_000283.3(PDE6B):c.1467+18G>A	noncoding	Benign
4	659037	C	T	C659037T	PDE6B	NM_000283.3(PDE6B):c.1467+20C>T	noncoding	Benign
4	660590	C	T	C660590T	PDE6B	NM_000283.3(PDE6B):c.1591C>T:p.Arg531Ter	coding	Pathogenic
4	660603	T	A	T660603A	PDE6B	NM_000283.3(PDE6B):c.1604T>A:p.Ile535Asn	coding	Pathogenic
4	662174	G	A	G662174A	PDE6B	NM_000283.4(PDE6B):c.1655G>A:p.Arg552Gln	coding	Pathogenic
4	662188	C	T	C662188T	PDE6B	NM_000283.3(PDE6B):c.1669C>T:p.His557Tyr	coding	Pathogenic
4	662218	C	T	C662218T	PDE6B	NM_000283.3(PDE6B):c.1699C>T:p.Gln567Ter	coding	Pathogenic/Likely_pathogenic
4	662530	T	C	T662530C	PDE6B	NM_000283.3(PDE6B):c.1744T>C:p.Tyr582His	coding	Pathogenic
4	662619	G	T	G662619T	PDE6B	NM_000283.3(PDE6B):c.1832+1G>T	coding	Pathogenic
4	663099	G	C	G663099C	PDE6B	NM_000283.4(PDE6B):c.1833-1G>C	noncoding	Pathogenic
4	663146	C	G	C663146G	PDE6B	NM_000283.3(PDE6B):c.1879C>G:p.Arg627Gly	coding	Pathogenic
4	663189	T	C	T663189C	PDE6B	NM_000283.4(PDE6B):c.1920+2T>C	noncoding	Pathogenic
4	663761	C	G	C663761G	PDE6B	NM_000283.3(PDE6B):c.1921-9C>G	noncoding	Pathogenic
4	663803	C	T	C663803T	PDE6B	NM_000283.4(PDE6B):c.1954C>T:p.Gln652Ter	coding	Pathogenic
4	663852	A	G	A663852G	PDE6B	NM_000283.3(PDE6B):c.2003A>G:p.Asp668Gly	coding	Pathogenic
4	663872	T	G	T663872G	PDE6B	NM_000283.3(PDE6B):c.2021+2T>G	noncoding	Pathogenic
4	664208	A	T	A664208T	PDE6B	NM_000283.4(PDE6B):c.2116A>T:p.Lys706Ter	coding	Pathogenic
4	664945	G	A	G664945A	PDE6B	NM_000283.3(PDE6B):c.2193+1G>A	coding	Pathogenic
4	666551	G	A	G666551A	PDE6B	NM_000283.3(PDE6B):c.2289G>A:p.Lys763=	coding	Benign/Likely_benign
4	666593	C	T	C666593T	PDE6B	NM_000283.3(PDE6B):c.2331C>T:p.Phe777=	coding	Benign/Likely_benign
4	667898	C	T	C667898T	PDE6B	NM_000283.3(PDE6B):c.2395C>T:p.Arg799Ter	coding	Pathogenic
4	667904	C	T	C667904T	PDE6B	NM_000283.3(PDE6B):c.2401C>T:p.Gln801Ter	coding	Pathogenic
4	667922	T	A	T667922A	PDE6B	NM_001145291.1(PDE6B):c.2419T>A:p.Trp807Arg	coding	Pathogenic
4	667945	T	A	T667945A	PDE6B	NM_001350154.2(PDE6B):c.1601+4T>A	coding	Pathogenic
4	670047	A	G	A670047G	PDE6B	NM_000283.3(PDE6B):c.2505A>G:p.Val835=	coding	Benign/Likely_benign
4	670119	A	G	A670119G	PDE6B	NM_000283.3(PDE6B):c.*12A>G	noncoding	Benign
4	670127	C	A	C670127A	PDE6B	NM_000283.3(PDE6B):c.*20C>A	noncoding	Benign/Likely_benign
4	670128	C	T	C670128T	PDE6B	NM_000283.3(PDE6B):c.*21C>T	noncoding	Benign/Likely_benign
4	670521	C	T	C670521T	PDE6B	NM_000283.3(PDE6B):c.*414C>T	noncoding	Benign/Likely_benign
4	761356	G	A	G761356A	PCGF3	NM_001317836.2(PCGF3):c.540G>A:p.Ala180=	coding	Benign
4	761398	C	T	C761398T	PCGF3	NM_001317836.2(PCGF3):c.582C>T:p.Asn194=	coding	Benign
4	849718	G	A	G849718A	GAK	NM_005255.4(GAK):c.3891C>T:p.Asp1297=	coding	Benign
4	849748	G	A	G849748A	GAK	NM_005255.4(GAK):c.3861C>T:p.His1287=	coding	Benign
4	850940	A	C	A850940C	GAK	NM_005255.4(GAK):c.3653T>G:p.Leu1218Arg	coding	Benign
4	851842	G	C	G851842C	GAK	NM_005255.4(GAK):c.3416C>G:p.Pro1139Arg	coding	Benign
4	865228	C	T	C865228T	GAK	NM_005255.4(GAK):c.3060G>A:p.Glu1020=	coding	Benign
4	867382	C	T	C867382T	GAK	NM_005255.4(GAK):c.2446G>A:p.Glu816Lys	coding	Benign
4	870801	G	A	G870801A	GAK	NM_005255.4(GAK):c.2158C>T:p.Pro720Ser	coding	Benign
4	877713	C	T	C877713T	GAK	NM_005255.4(GAK):c.1758G>A:p.Pro586=	coding	Benign
4	882709	G	A	G882709A	GAK	NM_005255.4(GAK):c.1515C>T:p.Val505=	coding	Benign
4	957845	C	T	C957845T	TMEM175	NM_032326.4(TMEM175):c.864C>T:p.Pro288=	coding	Benign
4	961844	G	A	G961844A	DGKQ	NM_001347.4(DGKQ):c.2316-10C>T	noncoding	Benign
4	962459	G	A	G962459A	DGKQ	NM_001347.4(DGKQ):c.2190C>T:p.Asp730=	coding	Benign
4	973318	G	A	G973318A	DGKQ	NM_001347.4(DGKQ):c.165C>T:p.Pro55=	coding	Benign
4	987085	A	C	A987085C	IDUA	NM_000203.5(IDUA):c.1A>C:p.Met1Leu	coding	Pathogenic
4	987086	T	C	T987086C	IDUA	NM_000203.5(IDUA):c.2T>C:p.Met1Thr	coding	Pathogenic
4	987108	C	A	C987108A	IDUA	NM_000203.5(IDUA):c.24C>A:p.Ala8=	coding	Benign
4	987144	G	A	G987144A	IDUA	NM_000203.5(IDUA):c.60G>A:p.Ala20=	coding	Benign
4	987183	T	G	T987183G	IDUA	NM_000203.5(IDUA):c.99T>G:p.His33Gln	coding	Benign
4	987225	G	A	G987225A	IDUA	NM_000203.5(IDUA):c.141G>A:p.Trp47Ter	coding	Pathogenic
4	987236	G	A	G987236A	IDUA	NM_000203.5(IDUA):c.152G>A:p.Gly51Asp	coding	Pathogenic
4	987828	C	T	C987828T	IDUA	NM_000203.5(IDUA):c.178C>T:p.Gln60Ter	coding	Pathogenic
4	987842	C	A	C987842A	IDUA	NM_000203.5(IDUA):c.192C>A:p.Tyr64Ter	coding	Pathogenic
4	987858	C	T	C987858T	IDUA;SLC26A1	NM_000203.5(IDUA):c.208C>T:p.Gln70Ter	coding	Pathogenic
4	987873	G	A	G987873A	IDUA	NM_000203.5(IDUA):c.223G>A:p.Ala75Thr	coding	Pathogenic
4	987915	C	T	C987915T	IDUA	NM_000203.5(IDUA):c.265C>T:p.Arg89Trp	coding	Pathogenic
4	987916	G	A	G987916A	IDUA	NM_000203.5(IDUA):c.266G>A:p.Arg89Gln	coding	Pathogenic
4	987946	C	T	C987946T	IDUA	NM_000203.5(IDUA):c.296C>T:p.Thr99Ile	coding	Benign/Likely_benign
4	987950	G	T	G987950T	IDUA	NM_000203.5(IDUA):c.299+1G>T	coding	Pathogenic/Likely_pathogenic
4	987955	C	T	C987955T	IDUA	NM_000203.5(IDUA):c.299+6C>T	coding	Benign
4	989824	C	T	C989824T	IDUA;SLC26A1	NM_000203.5(IDUA):c.299+1875C>T	coding	Benign
4	989984	C	T	C989984T	SLC26A1	NM_022042.4(SLC26A1):c.955G>A:p.Val319Met	coding	Benign
4	990110	C	T	C990110T	SLC26A1	NM_022042.4(SLC26A1):c.829G>A:p.Ala277Thr	coding	Benign
4	991170	G	A	G991170A	SLC26A1	NM_022042.4(SLC26A1):c.534C>T:p.Ile178=	coding	Benign
4	991191	G	A	G991191A	SLC26A1	NM_022042.4(SLC26A1):c.513C>T:p.Cys171=	coding	Benign
4	991425	C	A	C991425A	SLC26A1	NM_022042.4(SLC26A1):c.279G>T:p.Leu93=	coding	Benign
4	991487	C	T	C991487T	SLC26A1	NM_022042.4(SLC26A1):c.217G>A:p.Val73Ile	coding	Benign
4	991533	C	T	C991533T	SLC26A1	NM_022042.4(SLC26A1):c.171G>A:p.Thr57=	coding	Benign
4	991584	C	T	C991584T	SLC26A1	NM_022042.4(SLC26A1):c.120G>A:p.Ser40=	coding	Benign
4	1022218	C	T	C1022218T	FGFRL1	NM_001004356.3(FGFRL1):c.95C>T:p.Ala32Val	coding	Benign
4	1022357	C	A	C1022357A	FGFRL1	NM_001004356.3(FGFRL1):c.234C>A:p.Arg78=	coding	Benign
4	1022459	C	T	C1022459T	FGFRL1	NM_001004356.3(FGFRL1):c.336C>T:p.Tyr112=	coding	Benign
4	1023884	C	T	C1023884T	FGFRL1	NM_001004356.3(FGFRL1):c.501C>T:p.Ser167=	coding	Benign
4	1023924	G	A	G1023924A	FGFRL1	NM_001004356.3(FGFRL1):c.541G>A:p.Asp181Asn	coding	Benign
4	1023944	C	T	C1023944T	FGFRL1	NM_001004356.3(FGFRL1):c.561C>T:p.Asp187=	coding	Benign
4	1023959	G	A	G1023959A	FGFRL1	NM_001004356.3(FGFRL1):c.576G>A:p.Thr192=	coding	Benign
4	1023971	C	T	C1023971T	FGFRL1	NM_001004356.3(FGFRL1):c.588C>T:p.Ala196=	coding	Benign
4	1024055	G	A	G1024055A	FGFRL1	NM_001004356.3(FGFRL1):c.672G>A:p.Ser224=	coding	Benign
4	1024315	G	A	G1024315A	FGFRL1	NM_001004356.3(FGFRL1):c.723G>A:p.Arg241=	coding	Benign
4	1024330	C	T	C1024330T	FGFRL1	NM_001004356.3(FGFRL1):c.738C>T:p.Pro246=	coding	Benign
4	1024420	G	A	G1024420A	FGFRL1	NM_001004356.3(FGFRL1):c.828G>A:p.Pro276=	coding	Benign
4	1025059	G	A	G1025059A	FGFRL1	NM_001004356.3(FGFRL1):c.1227G>A:p.Ala409=	coding	Benign
4	1025083	C	T	C1025083T	FGFRL1	NM_001004356.3(FGFRL1):c.1251C>T:p.His417=	coding	Benign
4	1093699	G	A	G1093699A	RNF212	NM_001131034.4(RNF212):c.247-2861C>T	coding	Benign
4	1113457	T	C	T1113457C	RNF212	NM_001131034.4(RNF212):c.8A>G:p.Asn3Ser	coding	Benign
4	1167607	T	C	T1167607C	SPON2	NM_012445.4(SPON2):c.861A>G:p.Gly287=	coding	Benign
4	1167660	G	A	G1167660A	SPON2	NM_012445.4(SPON2):c.812-4C>T	noncoding	Benign
4	1170520	C	T	C1170520T	SPON2	NM_012445.4(SPON2):c.693G>A:p.Lys231=	coding	Benign
4	1212270	C	T	C1212270T	CTBP1	NM_001012614.2(CTBP1):c.1260G>A:p.Ala420=	coding	Benign
4	1212324	A	T	A1212324T	CTBP1	NM_001012614.2(CTBP1):c.1206T>A:p.Pro402=	coding	Benign
4	1213028	G	A	G1213028A	CTBP1	NM_001012614.2(CTBP1):c.991C>T:p.Arg331Trp	coding	Pathogenic
4	1214381	G	A	G1214381A	CTBP1	NM_001012614.2(CTBP1):c.822C>T:p.Arg274=	coding	Benign
4	1216009	G	A	G1216009A	CTBP1	NM_001012614.2(CTBP1):c.711C>T:p.Asn237=	coding	Benign
4	1216039	G	A	G1216039A	CTBP1	NM_001012614.2(CTBP1):c.681C>T:p.Gly227=	coding	Benign
4	1216214	G	A	G1216214A	CTBP1	NM_001012614.2(CTBP1):c.515-9C>T	coding	Benign
4	1225430	G	A	G1225430A	CTBP1	NM_001012614.2(CTBP1):c.444C>T:p.Val148=	coding	Benign
4	1225544	G	A	G1225544A	CTBP1	NM_001012614.2(CTBP1):c.330C>T:p.Pro110=	coding	Benign
4	1228351	G	A	G1228351A	CTBP1	NM_001012614.2(CTBP1):c.163-8C>T	noncoding	Benign
4	1238210	C	T	C1238210T	CTBP1	NM_001012614.2(CTBP1):c.135G>A:p.Ala45=	coding	Benign
4	1315453	C	T	C1315453T	MAEA	NM_001017405.3(MAEA):c.309C>T:p.Ile103=	coding	Benign
4	1315477	C	T	C1315477T	MAEA	NM_001017405.3(MAEA):c.333C>T:p.Ser111=	coding	Benign
4	1348185	T	C	T1348185C	UVSSA	NM_020894.4(UVSSA):c.94T>C:p.Cys32Arg	coding	Pathogenic
4	1349792	A	T	A1349792T	UVSSA	NM_020894.4(UVSSA):c.367A>T:p.Lys123Ter	coding	Pathogenic
4	1355113	G	A	G1355113A	UVSSA	NM_020894.4(UVSSA):c.1048-4G>A	noncoding	Benign
4	1380986	C	T	C1380986T	UVSSA	NM_020894.4(UVSSA):c.1859C>T:p.Pro620Leu	coding	Benign
4	1406384	T	C	T1406384C	NKX1-1	NM_001290079.1(NKX1-1):c.59A>G:p.Gln20Arg	coding	Benign
4	1655033	C	T	C1655033T	FAM53A	NM_001013622.3(FAM53A):c.827G>A:p.Arg276His	coding	Benign
4	1655049	G	C	G1655049C	FAM53A	NM_001013622.3(FAM53A):c.811C>G:p.Arg271Gly	coding	Benign
4	1655095	C	G	C1655095G	FAM53A	NM_001013622.3(FAM53A):c.765G>C:p.Leu255=	coding	Benign
4	1655097	G	A	G1655097A	FAM53A	NM_001013622.3(FAM53A):c.763C>T:p.Leu255=	coding	Benign
4	1655109	C	T	C1655109T	FAM53A	NM_001013622.3(FAM53A):c.751G>A:p.Gly251Arg	coding	Benign
4	1655129	G	A	G1655129A	FAM53A	NM_001013622.3(FAM53A):c.731C>T:p.Thr244Met	coding	Benign
4	1655156	G	C	G1655156C	FAM53A	NM_001013622.3(FAM53A):c.704C>G:p.Pro235Arg	coding	Benign
4	1655161	G	T	G1655161T	FAM53A	NM_001013622.3(FAM53A):c.699C>A:p.Gly233=	coding	Benign
4	1655230	G	A	G1655230A	FAM53A	NM_001013622.3(FAM53A):c.630C>T:p.Ser210=	coding	Benign
4	1655476	C	T	C1655476T	FAM53A	NM_001013622.3(FAM53A):c.384G>A:p.Glu128=	coding	Benign
4	1657410	T	C	T1657410C	FAM53A	NM_001013622.3(FAM53A):c.134A>G:p.Asn45Ser	coding	Benign
4	1723433	G	A	G1723433A	TACC3	NM_006342.3(TACC3):c.12G>A:p.Gln4=	coding	Benign
4	1728184	G	A	G1728184A	TACC3	NM_006342.3(TACC3):c.782G>A:p.Gly261Glu	coding	Benign
4	1728535	C	T	C1728535T	TACC3	NM_006342.3(TACC3):c.1133C>T:p.Pro378Leu	coding	Benign
4	1730877	G	C	G1730877C	TACC3	NM_006342.3(TACC3):c.1386-10G>C	noncoding	Benign
4	1735286	C	T	C1735286T	TACC3	NM_006342.3(TACC3):c.1605C>T:p.Gly535=	coding	Benign
4	1737301	C	T	C1737301T	TACC3	NM_006342.3(TACC3):c.1809C>T:p.Phe603=	coding	Benign
4	1744729	C	A	C1744729A	TACC3	NM_006342.3(TACC3):c.2348C>A:p.Ala783Asp	coding	Benign
4	1744840	C	T	C1744840T	TACC3	NM_006342.3(TACC3):c.2451+8C>T	noncoding	Benign
4	1793594	C	A	C1793594A	FGFR3	NM_001163213.1(FGFR3):c.-103+129C>A	noncoding	Benign
4	1793830	T	C	T1793830C	FGFR3	NM_000142.4(FGFR3):c.-102-3T>C	noncoding	Benign
4	1794069	G	A	G1794069A	FGFR3	NM_000142.4(FGFR3):c.109+26G>A	noncoding	Benign
4	1799274	G	A	G1799274A	FGFR3	NM_000142.5(FGFR3):c.130G>A:p.Gly44Ser	coding	Benign/Likely_benign
4	1799313	G	A	G1799313A	FGFR3	NM_000142.5(FGFR3):c.169G>A:p.Val57Met	coding	Benign/Likely_benign
4	1799337	G	A	G1799337A	FGFR3	NM_000142.5(FGFR3):c.193G>A:p.Gly65Arg	coding	Benign/Likely_benign
4	1799395	C	T	C1799395T	FGFR3	NM_000142.5(FGFR3):c.251C>T:p.Ser84Leu	coding	Pathogenic
4	1799488	A	T	A1799488T	FGFR3	NM_000142.5(FGFR3):c.344A>T:p.Gln115Leu	coding	Pathogenic
4	1799492	C	T	C1799492T	FGFR3	NM_000142.5(FGFR3):c.348C>T:p.Arg116=	coding	Benign
4	1799760	G	A	G1799760A	FGFR3	NM_000142.5(FGFR3):c.393G>A:p.Ser131=	coding	Benign
4	1799784	C	T	C1799784T	FGFR3	NM_000142.5(FGFR3):c.417C>T:p.Asp139=	coding	Benign
4	1799815	A	G	A1799815G	FGFR3	NM_000142.4(FGFR3):c.445+3A>G	noncoding	Benign
4	1799970	T	C	T1799970C	FGFR3	NM_000142.4(FGFR3):c.445+158T>C	noncoding	Benign
4	1801362	C	T	C1801362T	FGFR3	NM_000142.4(FGFR3):c.446-5C>T	noncoding	Benign
4	1801509	C	T	C1801509T	FGFR3	NM_000142.5(FGFR3):c.588C>T:p.Arg196=	coding	Benign
4	1801518	C	T	C1801518T	FGFR3	NM_000142.5(FGFR3):c.597C>T:p.His199=	coding	Pathogenic
4	1801524	T	C	T1801524C	FGFR3	NM_000142.5(FGFR3):c.603T>C:p.Ile201=	coding	Benign
4	1801542	C	A	C1801542A	FGFR3	NM_000142.4(FGFR3):c.615+6C>A	noncoding	Benign
4	1801544	C	G	C1801544G	FGFR3	NM_000142.4(FGFR3):c.615+8C>G	noncoding	Benign
4	1801580	T	C	T1801580C	FGFR3	NM_000142.4(FGFR3):c.616-40T>C	noncoding	Benign
4	1801605	C	T	C1801605T	FGFR3	NM_000142.4(FGFR3):c.616-15C>T	noncoding	Benign
4	1801658	G	C	G1801658C	FGFR3	NM_000142.5(FGFR3):c.654G>C:p.Val218=	coding	Benign
4	1801667	G	A	G1801667A	FGFR3	NM_000142.5(FGFR3):c.663G>A:p.Ser221=	coding	Benign
4	1801682	C	T	C1801682T	FGFR3	NM_000142.5(FGFR3):c.678C>T:p.Tyr226=	coding	Benign
4	1801717	G	A	G1801717A	FGFR3	NM_000142.4(FGFR3):c.713G>A:p.Arg238Gln	coding	Benign
4	1801837	C	T	C1801837T	FGFR3	NM_000142.5(FGFR3):c.742C>T:p.Arg248Cys	coding	Pathogenic
4	1801841	C	G	C1801841G	FGFR3	NM_001163213.1(FGFR3):c.746C>G:p.Ser249Cys	coding	Pathogenic
4	1801844	C	G	C1801844G	FGFR3	NM_000142.5(FGFR3):c.749C>G:p.Pro250Arg	coding	Pathogenic/Likely_pathogenic
4	1801866	G	A	G1801866A	FGFR3	NM_000142.5(FGFR3):c.771G>A:p.Ala257=	coding	Benign
4	1801886	C	T	C1801886T	FGFR3	NM_000142.5(FGFR3):c.791C>T:p.Thr264Met	coding	Pathogenic
4	1801896	G	T	G1801896T	FGFR3	NM_000142.5(FGFR3):c.801G>T:p.Leu267=	coding	Pathogenic
4	1801928	A	G	A1801928G	FGFR3	NM_000142.5(FGFR3):c.833A>G:p.Tyr278Cys	coding	Pathogenic
4	1801930	A	T	A1801930T	FGFR3	NM_000142.5(FGFR3):c.835A>T:p.Ser279Cys	coding	Pathogenic
4	1801977	T	C	T1801977C	FGFR3	NM_000142.5(FGFR3):c.882T>C:p.Asn294=	coding	Benign
4	1802035	C	T	C1802035T	FGFR3	NM_001163213.1(FGFR3):c.930+10C>T	noncoding	Benign
4	1802097	C	G	C1802097G	FGFR3	NM_000142.4(FGFR3):c.930+72C>G	noncoding	Benign
4	1802650	G	A	G1802650A	FGFR3	NM_000142.4(FGFR3):c.930+625G>A	noncoding	Benign
4	1803569	G	A	G1803569A	FGFR3	NM_001163213.1(FGFR3):c.1081+505G>A	noncoding	Benign
4	1803694	G	A	G1803694A	FGFR3	NM_000142.4(FGFR3):c.933G>A:p.Thr311=	coding	Benign
4	1803725	G	A	G1803725A	FGFR3	NM_000142.5(FGFR3):c.964G>A:p.Glu322Lys	coding	Pathogenic
4	1803731	C	G	C1803731G	FGFR3	NM_000142.5(FGFR3):c.970C>G:p.Leu324Val	coding	Pathogenic
4	1803744	A	T	A1803744T	FGFR3	NM_000142.5(FGFR3):c.983A>T:p.Asn328Ile	coding	Pathogenic
4	1803751	C	T	C1803751T	FGFR3	NM_000142.5(FGFR3):c.990C>T:p.Thr330=	coding	Benign
4	1803775	C	T	C1803775T	FGFR3	NM_000142.5(FGFR3):c.1014C>T:p.Thr338=	coding	Benign
4	1803784	G	A	G1803784A	FGFR3	NM_000142.4(FGFR3):c.1023G>A:p.Ala341=	coding	Benign/Likely_benign
4	1803785	G	T	G1803785T	FGFR3	NM_000142.5(FGFR3):c.1024G>T:p.Gly342Cys	coding	Pathogenic
4	1803813	C	G	C1803813G	FGFR3	NM_000142.5(FGFR3):c.1052C>G:p.Ser351Cys	coding	Pathogenic/Likely_pathogenic
4	1803813	C	T	C1803813T	FGFR3	NM_000142.5(FGFR3):c.1052C>T:p.Ser351Phe	coding	Pathogenic
4	1803841	C	T	C1803841T	FGFR3	NM_000142.4(FGFR3):c.1075+5C>T	noncoding	Benign
4	1803866	G	C	G1803866C	FGFR3	NM_000142.4(FGFR3):c.1075+30G>C	noncoding	Benign
4	1804313	C	T	C1804313T	FGFR3	NM_000142.4(FGFR3):c.1076-17C>T	noncoding	Benign
4	1804314	G	A	G1804314A	FGFR3	NM_000142.4(FGFR3):c.1076-16G>A	noncoding	Benign
4	1804317	C	T	C1804317T	FGFR3	NM_000142.4(FGFR3):c.1076-13C>T	noncoding	Benign
4	1804362	G	T	G1804362T	FGFR3	NM_000142.5(FGFR3):c.1108G>T:p.Gly370Cys	coding	Pathogenic
4	1804365	A	T	A1804365T	FGFR3	NM_000142.5(FGFR3):c.1111A>T:p.Ser371Cys	coding	Pathogenic
4	1804377	G	T	G1804377T	FGFR3	NM_000142.5(FGFR3):c.1123G>T:p.Gly375Cys	coding	Pathogenic
4	1804392	G	C	G1804392C	FGFR3	NM_000142.5(FGFR3):c.1138G>C:p.Gly380Arg	coding	Pathogenic
4	1804396	T	A	T1804396A	FGFR3	NM_000142.5(FGFR3):c.1142T>A:p.Val381Glu	coding	Pathogenic
4	1804404	T	C	T1804404C	FGFR3	NM_000142.5(FGFR3):c.1150T>C:p.Phe384Leu	coding	Benign/Likely_benign
4	1804426	C	A	C1804426A	FGFR3	NM_000142.5(FGFR3):c.1172C>A:p.Ala391Glu	coding	Pathogenic
4	1804792	C	T	C1804792T	FGFR3	NM_000142.4(FGFR3):c.1267-32C>T	noncoding	Benign
4	1804847	C	T	C1804847T	FGFR3	NM_000142.5(FGFR3):c.1290C>T:p.Ser430=	coding	Benign/Likely_benign
4	1804902	C	T	C1804902T	FGFR3	NM_000142.5(FGFR3):c.1345C>T:p.Pro449Ser	coding	Benign/Likely_benign
4	1804906	C	T	C1804906T	FGFR3	NM_000142.5(FGFR3):c.1349C>T:p.Thr450Met	coding	Benign
4	1805107	G	C	G1805107C	FGFR3	NM_001163213.1(FGFR3):c.1418+138G>C	noncoding	Benign
4	1805326	A	G	A1805326G	FGFR3	NM_000142.4(FGFR3):c.1413-29A>G	noncoding	Benign
4	1805339	C	G	C1805339G	FGFR3	NM_001163213.1(FGFR3):c.1419-16C>G	noncoding	Benign
4	1805539	G	A	G1805539A	FGFR3	NM_000142.4(FGFR3):c.1535-20G>A	noncoding	Benign
4	1805551	G	T	G1805551T	FGFR3	NM_000142.4(FGFR3):c.1535-8G>T	noncoding	Benign
4	1805561	G	A	G1805561A	FGFR3	NM_000142.5(FGFR3):c.1537G>A:p.Asp513Asn	coding	Pathogenic
4	1805636	A	G	A1805636G	FGFR3	NM_000142.5(FGFR3):c.1612A>G:p.Ile538Val	coding	Pathogenic
4	1805643	A	C	A1805643C	FGFR3	NM_000142.5(FGFR3):c.1619A>C:p.Asn540Thr	coding	Pathogenic
4	1805644	C	A	C1805644A	FGFR3	NM_000142.5(FGFR3):c.1620C>A:p.Asn540Lys	coding	Pathogenic
4	1805644	C	G	C1805644G	FGFR3	NM_000142.5(FGFR3):c.1620C>G:p.Asn540Lys	coding	Pathogenic
4	1805661	C	A	C1805661A	FGFR3	NM_000142.5(FGFR3):c.1637C>A:p.Thr546Lys	coding	Pathogenic
4	1805684	G	A	G1805684A	FGFR3	NM_000142.4(FGFR3):c.1645+15G>A	noncoding	Benign
4	1805746	C	T	C1805746T	FGFR3	NM_001163213.1(FGFR3):c.1652-4C>T	noncoding	Benign
4	1805751	G	T	G1805751T	FGFR3	NM_000142.5(FGFR3):c.1647G>T:p.Gly549=	coding	Benign
4	1805772	G	A	G1805772A	FGFR3	NM_000142.4(FGFR3):c.1668G>A:p.Glu556=	coding	Benign
4	1805823	G	A	G1805823A	FGFR3	NM_000142.4(FGFR3):c.1719G>A:p.Pro573=	coding	Benign
4	1806076	G	A	G1806076A	FGFR3	NM_000142.5(FGFR3):c.1862G>A:p.Arg621His	coding	Pathogenic
4	1806096	G	A	G1806096A	FGFR3	NM_000142.5(FGFR3):c.1882G>A:p.Asp628Asn	coding	Pathogenic
4	1806162	A	G	A1806162G	FGFR3	NM_000142.5(FGFR3):c.1948A>G:p.Lys650Glu	coding	Pathogenic
4	1806163	A	C	A1806163C	FGFR3	NM_000142.5(FGFR3):c.1949A>C:p.Lys650Thr	coding	Pathogenic
4	1806163	A	T	A1806163T	FGFR3	NM_000142.5(FGFR3):c.1949A>T:p.Lys650Met	coding	Pathogenic
4	1806164	G	C	G1806164C	FGFR3	NM_000142.5(FGFR3):c.1950G>C:p.Lys650Asn	coding	Pathogenic
4	1806164	G	T	G1806164T	FGFR3	NM_000142.5(FGFR3):c.1950G>T:p.Lys650Asn	coding	Pathogenic
4	1806181	C	T	C1806181T	FGFR3	NM_000142.4(FGFR3):c.1959+8C>T	noncoding	Benign/Likely_benign
4	1806195	G	A	G1806195A	FGFR3	NM_000142.4(FGFR3):c.1959+22G>A	noncoding	Benign
4	1806558	G	A	G1806558A	FGFR3	NM_000142.5(FGFR3):c.2043G>A:p.Gly681=	coding	Benign/Likely_benign
4	1806603	C	T	C1806603T	FGFR3	NM_000142.5(FGFR3):c.2088C>T:p.Pro696=	coding	Benign/Likely_benign
4	1806824	C	T	C1806824T	FGFR3	NM_000142.4(FGFR3):c.2169-5C>T	noncoding	Benign
4	1806865	C	G	C1806865G	FGFR3	NM_000142.5(FGFR3):c.2205C>G:p.Pro735=	coding	Benign
4	1806919	C	T	C1806919T	FGFR3	NM_000142.5(FGFR3):c.2259C>T:p.Thr753=	coding	Benign/Likely_benign
4	1807260	T	A	T1807260A	FGFR3	NM_000142.5(FGFR3):c.2419T>A:p.Ter807Arg	coding	Pathogenic
4	1807260	T	C	T1807260C	FGFR3	NM_000142.5(FGFR3):c.2419T>C:p.Ter807Arg	coding	Pathogenic
4	1807260	T	G	T1807260G	FGFR3	NM_000142.5(FGFR3):c.2419T>G:p.Ter807Gly	coding	Pathogenic
4	1807261	G	T	G1807261T	FGFR3	NM_000142.5(FGFR3):c.2420G>T:p.Ter807Leu	coding	Pathogenic
4	1807262	A	C	A1807262C	FGFR3	NM_000142.5(FGFR3):c.2421A>C:p.Ter807Cys	coding	Pathogenic
4	1807262	A	G	A1807262G	FGFR3	NM_000142.5(FGFR3):c.2421A>G:p.Ter807Trp	coding	Pathogenic
4	1807262	A	T	A1807262T	FGFR3	NM_000142.5(FGFR3):c.2421A>T:p.Ter807Cys	coding	Pathogenic
4	1807267	C	G	C1807267G	FGFR3	NM_000142.5(FGFR3):c.*5C>G	noncoding	Benign
4	1814554	T	C	T1814554C	LETM1	NM_012318.3(LETM1):c.2090A>G:p.Lys697Arg	coding	Benign
4	1815655	G	A	G1815655A	LETM1	NM_012318.3(LETM1):c.2070+9C>T	noncoding	Benign
4	1815739	T	G	T1815739G	LETM1	NM_012318.3(LETM1):c.1995A>C:p.Glu665Asp	coding	Benign
4	1816747	C	T	C1816747T	LETM1	NM_012318.3(LETM1):c.1911G>A:p.Pro637=	coding	Benign
4	1816841	T	C	T1816841C	LETM1	NM_012318.3(LETM1):c.1817A>G:p.Lys606Arg	coding	Benign
4	1816894	C	T	C1816894T	LETM1	NM_012318.3(LETM1):c.1764G>A:p.Lys588=	coding	Benign
4	1816898	T	C	T1816898C	LETM1	NM_012318.3(LETM1):c.1760A>G:p.Lys587Arg	coding	Benign
4	1834887	G	T	G1834887T	LETM1	NM_012318.3(LETM1):c.834C>A:p.Ala278=	coding	Benign
4	1836471	G	A	G1836471A	LETM1	NM_012318.3(LETM1):c.696C>T:p.Phe232=	coding	Benign
4	1836549	G	T	G1836549T	LETM1	NM_012318.3(LETM1):c.618C>A:p.Leu206=	coding	Benign
4	1841548	G	T	G1841548T	LETM1	NM_012318.3(LETM1):c.393C>A:p.Asn131Lys	coding	Benign
4	1841697	T	C	T1841697C	LETM1	NM_012318.3(LETM1):c.244A>G:p.Ile82Val	coding	Benign
4	1841793	C	T	C1841793T	LETM1	NM_012318.3(LETM1):c.148G>A:p.Val50Ile	coding	Benign
4	1855870	C	T	C1855870T	LETM1	NM_012318.3(LETM1):c.81G>A:p.Arg27=	coding	Benign
4	1900808	C	T	C1900808T	NSD2	NM_001042424.3(NSD2):c.154C>T:p.Gln52Ter	coding	Pathogenic
4	1900852	C	T	C1900852T	NSD2	NM_001042424.3(NSD2):c.198C>T:p.Asn66=	coding	Benign
4	1900870	C	G	C1900870G	NSD2	NM_001042424.3(NSD2):c.216C>G:p.Pro72=	coding	Benign
4	1900882	C	T	C1900882T	NSD2	NM_001042424.3(NSD2):c.228C>T:p.Ala76=	coding	Benign
4	1901035	A	G	A1901035G	NSD2	NM_001042424.3(NSD2):c.381A>G:p.Lys127=	coding	Benign
4	1904326	G	A	G1904326A	NSD2	NM_001042424.3(NSD2):c.708G>A:p.Trp236Ter	coding	Pathogenic
4	1916903	C	T	C1916903T	NSD2	NM_001042424.3(NSD2):c.793C>T:p.Gln265Ter	coding	Pathogenic
4	1916924	G	T	G1916924T	NSD2	NM_001042424.3(NSD2):c.814G>T:p.Glu272Ter	coding	Pathogenic
4	1918461	C	T	C1918461T	NSD2	NM_001042424.3(NSD2):c.1248C>T:p.Pro416=	coding	Benign
4	1918543	A	G	A1918543G	NSD2	NM_001042424.3(NSD2):c.1330A>G:p.Thr444Ala	coding	Benign
4	1935170	C	A	C1935170A	NSD2	NM_001042424.3(NSD2):c.1582C>A:p.His528Asn	coding	Benign
4	1938441	T	A	T1938441A	NSD2	NM_001042424.3(NSD2):c.1675-10T>A	noncoding	Benign
4	1955285	G	A	G1955285A	NSD2	NM_001042424.3(NSD2):c.2463G>A:p.Lys821=	coding	Benign
4	1974865	C	T	C1974865T	NSD2	NM_001042424.3(NSD2):c.3375C>T:p.Asp1125=	coding	Benign
4	1974964	C	T	C1974964T	NSD2	NM_001042424.3(NSD2):c.3474C>T:p.Asp1158=	coding	Benign
4	1974985	C	T	C1974985T	NSD2	NM_001042424.3(NSD2):c.3495C>T:p.Ala1165=	coding	Benign
4	1978711	C	T	C1978711T	NSD2	NM_001042424.3(NSD2):c.3900C>T:p.Pro1300=	coding	Benign
4	1983663	G	A	G1983663A	NELFA	NM_005663.5(NELFA):c.1335C>T:p.Phe445=	coding	Benign
4	1983860	G	A	G1983860A	NELFA	NM_005663.5(NELFA):c.1290C>T:p.Asn430=	coding	Benign
4	1983941	G	A	G1983941A	NELFA	NM_005663.5(NELFA):c.1209C>T:p.Val403=	coding	Benign
4	1984841	A	C	A1984841C	NELFA	NM_005663.5(NELFA):c.1003T>G:p.Ser335Ala	coding	Benign
4	1984844	C	T	C1984844T	NELFA	NM_005663.5(NELFA):c.1000G>A:p.Ala334Thr	coding	Benign
4	1986376	C	G	C1986376G	NELFA	NM_005663.5(NELFA):c.661G>C:p.Ala221Pro	coding	Benign
4	1986392	T	C	T1986392C	NELFA	NM_005663.5(NELFA):c.645A>G:p.Lys215=	coding	Benign
4	1989853	C	T	C1989853T	NELFA	NM_005663.5(NELFA):c.399G>A:p.Ala133=	coding	Benign
4	1991644	G	A	G1991644A	NELFA	NM_005663.5(NELFA):c.282C>T:p.Ala94=	coding	Benign
4	2059754	C	G	C2059754G	NAT8L	NM_178557.4(NAT8L):c.243C>G:p.Arg81=	coding	Benign
4	2061170	C	T	C2061170T	NAT8L	NM_178557.4(NAT8L):c.541+8C>T	noncoding	Benign
4	2085677	A	C	A2085677C	POLN	NM_181808.4(POLN):c.2133T>G:p.Phe711Leu	coding	Benign
4	2193282	G	A	G2193282A	POLN	NM_181808.4(POLN):c.943C>T:p.Pro315Ser	coding	Benign
4	2304318	G	A	G2304318A	ZFYVE28	NM_020972.3(ZFYVE28):c.2022C>T:p.His674=	coding	Benign
4	2304969	G	T	G2304969T	ZFYVE28	NM_020972.3(ZFYVE28):c.1371C>A:p.Asp457Glu	coding	Benign
4	2305394	G	C	G2305394C	ZFYVE28	NM_020972.3(ZFYVE28):c.946C>G:p.Pro316Ala	coding	Benign
4	2305398	G	C	G2305398C	ZFYVE28	NM_020972.3(ZFYVE28):c.942C>G:p.Leu314=	coding	Benign
4	2663247	A	G	A2663247G	FAM193A	NM_001366318.2(FAM193A):c.2038A>G:p.Ser680Gly	coding	Benign
4	2690977	C	T	C2690977T	FAM193A	NM_001366318.2(FAM193A):c.2803+7C>T	noncoding	Benign
4	2818833	G	T	G2818833T	SH3BP2	NM_001122681.2(SH3BP2):c.-4-1781G>T	coding	Benign
4	2818834	A	C	A2818834C	SH3BP2	NM_001122681.2(SH3BP2):c.-4-1780A>C	coding	Benign
4	2820740	G	T	G2820740T	SH3BP2	NM_001122681.2(SH3BP2):c.123G>T:p.Leu41=	coding	Benign
4	2822964	C	T	C2822964T	SH3BP2	NM_001122681.2(SH3BP2):c.166C>T:p.Arg56Cys	coding	Benign
4	2822969	C	T	C2822969T	SH3BP2	NM_001122681.2(SH3BP2):c.171C>T:p.Cys57=	coding	Benign
4	2823011	C	T	C2823011T	SH3BP2	NM_001122681.2(SH3BP2):c.213C>T:p.Gly71=	coding	Benign
4	2823037	G	A	G2823037A	SH3BP2	NM_001122681.2(SH3BP2):c.239G>A:p.Arg80Gln	coding	Benign/Likely_benign
4	2824649	C	T	C2824649T	SH3BP2	NM_001122681.2(SH3BP2):c.276C>T:p.Asn92=	coding	Benign
4	2824672	A	G	A2824672G	SH3BP2	NM_001122681.2(SH3BP2):c.299A>G:p.His100Arg	coding	Benign/Likely_benign
4	2824673	T	C	T2824673C	SH3BP2	NM_001122681.2(SH3BP2):c.300T>C:p.His100=	coding	Benign
4	2824745	G	T	G2824745T	SH3BP2	NM_001122681.2(SH3BP2):c.357+15G>T	noncoding	Benign
4	2825185	C	G	C2825185G	SH3BP2	NM_001122681.2(SH3BP2):c.417C>G:p.Pro139=	coding	Benign
4	2827242	G	A	G2827242A	SH3BP2	NM_001122681.2(SH3BP2):c.441G>A:p.Ser147=	coding	Benign/Likely_benign
4	2827265	C	T	C2827265T	SH3BP2	NM_001122681.2(SH3BP2):c.464C>T:p.Ala155Val	coding	Benign
4	2827591	C	G	C2827591G	SH3BP2	NM_001122681.2(SH3BP2):c.518-15C>G	noncoding	Benign
4	2827616	C	T	C2827616T	SH3BP2	NM_001122681.2(SH3BP2):c.528C>T:p.His176=	coding	Benign/Likely_benign
4	2827631	C	T	C2827631T	SH3BP2	NM_001122681.2(SH3BP2):c.543C>T:p.Asp181=	coding	Benign
4	2827682	G	A	G2827682A	SH3BP2	NM_001122681.2(SH3BP2):c.586+8G>A	noncoding	Benign
4	2829656	T	G	T2829656G	SH3BP2	NM_001122681.2(SH3BP2):c.750T>G:p.Ala250=	coding	Benign
4	2829688	C	G	C2829688G	SH3BP2	NM_001122681.2(SH3BP2):c.782C>G:p.Pro261Arg	coding	Benign
4	2829707	C	T	C2829707T	SH3BP2	NM_001122681.2(SH3BP2):c.801C>T:p.Cys267=	coding	Benign
4	2829995	T	C	T2829995C	SH3BP2	NM_001122681.2(SH3BP2):c.1089T>C:p.Ala363=	coding	Benign
4	2830028	C	T	C2830028T	SH3BP2	NM_001122681.2(SH3BP2):c.1122C>T:p.Pro374=	coding	Benign
4	2830057	G	A	G2830057A	SH3BP2	NM_001122681.2(SH3BP2):c.1151G>A:p.Arg384Gln	coding	Benign/Likely_benign
4	2831573	G	A	G2831573A	SH3BP2	NM_001122681.2(SH3BP2):c.1244G>A:p.Arg415Gln	coding	Pathogenic
4	2831573	G	C	G2831573C	SH3BP2	NM_001122681.2(SH3BP2):c.1244G>C:p.Arg415Pro	coding	Pathogenic
4	2831581	C	A	C2831581A	SH3BP2	NM_001122681.2(SH3BP2):c.1252C>A:p.Pro418Thr	coding	Pathogenic
4	2831581	C	T	C2831581T	SH3BP2	NM_001122681.2(SH3BP2):c.1252C>T:p.Pro418Ser	coding	Pathogenic
4	2831582	C	A	C2831582A	SH3BP2	NM_001122681.2(SH3BP2):c.1253C>A:p.Pro418His	coding	Pathogenic
4	2831582	C	G	C2831582G	SH3BP2	NM_001122681.2(SH3BP2):c.1253C>G:p.Pro418Arg	coding	Pathogenic
4	2831587	G	A	G2831587A	SH3BP2	NM_001122681.2(SH3BP2):c.1258G>A:p.Gly420Arg	coding	Pathogenic
4	2831587	G	C	G2831587C	SH3BP2	NM_001122681.2(SH3BP2):c.1258G>C:p.Gly420Arg	coding	Pathogenic
4	2831588	G	A	G2831588A	SH3BP2	NM_001122681.2(SH3BP2):c.1259G>A:p.Gly420Glu	coding	Pathogenic
4	2831649	C	T	C2831649T	SH3BP2	NM_001122681.2(SH3BP2):c.1320C>T:p.Gly440=	coding	Benign
4	2831661	G	A	G2831661A	SH3BP2	NM_001122681.2(SH3BP2):c.1332G>A:p.Ser444=	coding	Benign/Likely_benign
4	2831913	C	A	C2831913A	SH3BP2	NM_001122681.2(SH3BP2):c.1351-10C>A	noncoding	Benign
4	2831938	T	C	T2831938C	SH3BP2	NM_001122681.2(SH3BP2):c.1366T>C:p.Ser456Pro	coding	Benign
4	2832320	T	A	T2832320A	SH3BP2	NM_001122681.2(SH3BP2):c.1407-11T>A	noncoding	Benign
4	2832353	C	T	C2832353T	SH3BP2	NM_001122681.2(SH3BP2):c.1429C>T:p.Arg477Trp	coding	Benign
4	2832419	G	A	G2832419A	SH3BP2	NM_001122681.2(SH3BP2):c.1488+7G>A	noncoding	Benign
4	2833685	C	A	C2833685A	SH3BP2	NM_001122681.2(SH3BP2):c.1549-12C>A	noncoding	Benign
4	2833772	G	A	G2833772A	SH3BP2	NM_001122681.2(SH3BP2):c.1624G>A:p.Val542Met	coding	Benign
4	2833834	A	G	A2833834G	SH3BP2	NM_001122681.2(SH3BP2):c.1686A>G:p.Ter562Trp	coding	Benign/Likely_benign
4	2833876	C	T	C2833876T	SH3BP2	NM_001122681.2(SH3BP2):c.*42C>T	noncoding	Benign
4	2833996	G	A	G2833996A	SH3BP2	NM_001122681.2(SH3BP2):c.*162G>A	noncoding	Benign
4	2834139	C	T	C2834139T	SH3BP2	NM_001122681.2(SH3BP2):c.*305C>T	noncoding	Benign
4	2834206	G	A	G2834206A	SH3BP2	NM_001122681.2(SH3BP2):c.*372G>A	noncoding	Benign
4	2834468	C	A	C2834468A	SH3BP2	NM_001122681.2(SH3BP2):c.*634C>A	noncoding	Benign
4	2834523	C	T	C2834523T	SH3BP2	NM_001122681.2(SH3BP2):c.*689C>T	noncoding	Benign
4	2834570	C	T	C2834570T	SH3BP2	NM_001122681.2(SH3BP2):c.*736C>T	noncoding	Benign
4	2834716	C	T	C2834716T	SH3BP2	NM_001122681.2(SH3BP2):c.*882C>T	noncoding	Benign
4	2834901	C	T	C2834901T	SH3BP2	NM_001122681.2(SH3BP2):c.*1067C>T	noncoding	Benign
4	2835152	T	C	T2835152C	SH3BP2	NM_001122681.2(SH3BP2):c.*1318T>C	noncoding	Benign
4	2835254	C	T	C2835254T	SH3BP2	NM_001122681.2(SH3BP2):c.*1420C>T	noncoding	Benign
4	2835490	T	C	T2835490C	SH3BP2	NM_001122681.2(SH3BP2):c.*1656T>C	noncoding	Benign
4	2835513	C	T	C2835513T	SH3BP2	NM_001122681.2(SH3BP2):c.*1679C>T	noncoding	Benign
4	2835632	T	C	T2835632C	SH3BP2	NM_001122681.2(SH3BP2):c.*1798T>C	noncoding	Benign
4	2835645	G	A	G2835645A	SH3BP2	NM_001122681.2(SH3BP2):c.*1811G>A	noncoding	Benign
4	2835694	C	T	C2835694T	SH3BP2	NM_001122681.2(SH3BP2):c.*1860C>T	noncoding	Benign
4	2835744	C	T	C2835744T	SH3BP2	NM_001122681.2(SH3BP2):c.*1910C>T	noncoding	Benign
4	2835769	C	T	C2835769T	SH3BP2	NM_001122681.2(SH3BP2):c.*1935C>T	noncoding	Benign
4	2835997	A	T	A2835997T	SH3BP2	NM_001122681.2(SH3BP2):c.*2163A>T	noncoding	Benign
4	2836176	C	T	C2836176T	SH3BP2	NM_001122681.2(SH3BP2):c.*2342C>T	noncoding	Benign
4	2836193	A	G	A2836193G	SH3BP2	NM_001122681.2(SH3BP2):c.*2359A>G	noncoding	Benign
4	2836305	G	T	G2836305T	SH3BP2	NM_001122681.2(SH3BP2):c.*2471G>T	noncoding	Benign
4	2836319	T	C	T2836319C	SH3BP2	NM_001122681.2(SH3BP2):c.*2485T>C	noncoding	Benign
4	2836344	A	G	A2836344G	SH3BP2	NM_001122681.2(SH3BP2):c.*2510A>G	noncoding	Benign
4	2836413	C	T	C2836413T	SH3BP2	NM_001122681.2(SH3BP2):c.*2579C>T	noncoding	Benign
4	2836457	G	T	G2836457T	SH3BP2	NM_001122681.2(SH3BP2):c.*2623G>T	noncoding	Benign
4	2836638	G	A	G2836638A	SH3BP2	NM_001122681.2(SH3BP2):c.*2804G>A	noncoding	Benign
4	2836746	C	T	C2836746T	SH3BP2	NM_001122681.2(SH3BP2):c.*2912C>T	noncoding	Benign
4	2836785	C	G	C2836785G	SH3BP2	NM_001122681.2(SH3BP2):c.*2951C>G	noncoding	Benign
4	2836849	G	A	G2836849A	SH3BP2	NM_001122681.2(SH3BP2):c.*3015G>A	noncoding	Benign
4	2836912	G	A	G2836912A	SH3BP2	NM_001122681.2(SH3BP2):c.*3078G>A	noncoding	Benign
4	2836989	C	T	C2836989T	SH3BP2	NM_001122681.2(SH3BP2):c.*3155C>T	noncoding	Benign
4	2837129	C	T	C2837129T	SH3BP2	NM_001122681.2(SH3BP2):c.*3295C>T	noncoding	Benign
4	2837143	C	T	C2837143T	SH3BP2	NM_001122681.2(SH3BP2):c.*3309C>T	noncoding	Benign
4	2837184	C	G	C2837184G	SH3BP2	NM_001122681.2(SH3BP2):c.*3350C>G	noncoding	Benign
4	2837443	C	T	C2837443T	SH3BP2	NM_001122681.2(SH3BP2):c.*3609C>T	noncoding	Benign
4	2837472	A	G	A2837472G	SH3BP2	NM_001122681.2(SH3BP2):c.*3638A>G	noncoding	Benign
4	2837577	G	A	G2837577A	SH3BP2	NM_001122681.2(SH3BP2):c.*3743G>A	noncoding	Benign
4	2837592	T	G	T2837592G	SH3BP2	NM_001122681.2(SH3BP2):c.*3758T>G	noncoding	Benign
4	2837711	G	C	G2837711C	SH3BP2	NM_001122681.2(SH3BP2):c.*3877G>C	noncoding	Benign
4	2837808	G	T	G2837808T	SH3BP2	NM_001122681.2(SH3BP2):c.*3974G>T	noncoding	Benign
4	2837881	C	T	C2837881T	SH3BP2	NM_001122681.2(SH3BP2):c.*4047C>T	noncoding	Benign
4	2837932	G	A	G2837932A	SH3BP2	NM_001122681.2(SH3BP2):c.*4098G>A	noncoding	Benign
4	2838013	C	T	C2838013T	SH3BP2	NM_001122681.2(SH3BP2):c.*4179C>T	noncoding	Benign
4	2838397	A	C	A2838397C	SH3BP2	NM_001122681.2(SH3BP2):c.*4563A>C	noncoding	Benign
4	2875960	G	T	G2875960T	ADD1	NM_014190.4(ADD1):c.45G>T:p.Pro15=	coding	Benign
4	2894692	G	A	G2894692A	ADD1	NM_014190.4(ADD1):c.702G>A:p.Val234=	coding	Benign
4	2898279	T	C	T2898279C	ADD1	NM_014190.4(ADD1):c.837T>C:p.Asp279=	coding	Benign
4	2904796	T	A	T2904796A	ADD1	NM_014190.4(ADD1):c.1194T>A:p.Pro398=	coding	Benign
4	2904964	C	T	C2904964T	ADD1	NM_014190.4(ADD1):c.1362C>T:p.Asp454=	coding	Benign
4	2908538	C	T	C2908538T	ADD1	NM_014190.4(ADD1):c.1539C>T:p.Asp513=	coding	Benign
4	2908581	G	A	G2908581A	ADD1	NM_014190.4(ADD1):c.1582G>A:p.Val528Met	coding	Benign
4	2952330	A	T	A2952330T	NOP14	NM_001291978.2(NOP14):c.815T>A:p.Met272Lys	coding	Benign
4	3007809	C	T	C3007809T	GRK4	NM_182982.3(GRK4):c.517C>T:p.Gln173Ter	coding	Benign
4	3019748	C	T	C3019748T	GRK4	NM_182982.3(GRK4):c.849C>T:p.Gly283=	coding	Benign
4	3131647	C	T	C3131647T	HTT	NM_002111.8(HTT):c.2114C>T:p.Pro705Leu	coding	Pathogenic
4	3229927	T	A	T3229927A	HTT	NM_002111.8(HTT):c.8156T>A:p.Phe2719Tyr	coding	Pathogenic
4	3416987	G	A	G3416987A	RGS12	NM_198229.2(RGS12):c.2502G>A:p.Ala834=	coding	Benign
4	3463346	G	T	G3463346T	DOK7	NM_173660.5(DOK7):c.-30G>T	noncoding	Benign/Likely_benign
4	3463370	C	G	C3463370G	DOK7	NM_173660.5(DOK7):c.-6C>G	noncoding	Benign/Likely_benign
4	3463458	G	T	G3463458T	DOK7	NM_173660.5(DOK7):c.54+29G>T	noncoding	Benign
4	3463505	G	T	G3463505T	DOK7	NM_173660.5(DOK7):c.55-1G>T	noncoding	Pathogenic
4	3463617	A	G	A3463617G	DOK7	NM_173660.5(DOK7):c.100+66A>G	noncoding	Benign
4	3463712	C	T	C3463712T	DOK7	NM_173660.5(DOK7):c.100+161C>T	noncoding	Benign
4	3463839	G	C	G3463839C	DOK7	NM_173660.5(DOK7):c.100+288G>C	noncoding	Benign
4	3473380	G	A	G3473380A	DOK7	NM_173660.5(DOK7):c.101-26G>A	noncoding	Benign
4	3473380	G	C	G3473380C	DOK7	NM_173660.5(DOK7):c.101-26G>C	noncoding	Benign
4	3473395	G	A	G3473395A	DOK7	NM_173660.5(DOK7):c.101-11G>A	noncoding	Benign
4	3473494	C	T	C3473494T	DOK7	NM_173660.5(DOK7):c.189C>T:p.Cys63=	coding	Benign/Likely_benign
4	3473504	C	T	C3473504T	DOK7	NM_173660.5(DOK7):c.199C>T:p.Pro67Ser	coding	Pathogenic
4	3473637	G	T	G3473637T	DOK7	NM_173660.5(DOK7):c.331+1G>T	coding	Pathogenic
4	3473663	G	A	G3473663A	DOK7	NM_173660.5(DOK7):c.331+27G>A	noncoding	Benign
4	3473679	G	T	G3473679T	DOK7	NM_173660.5(DOK7):c.331+43G>T	noncoding	Benign
4	3476286	G	A	G3476286A	DOK7	NM_173660.5(DOK7):c.332-56G>A	noncoding	Benign
4	3476293	C	T	C3476293T	DOK7	NM_173660.5(DOK7):c.332-49C>T	noncoding	Benign
4	3476324	T	C	T3476324C	DOK7	NM_173660.5(DOK7):c.332-18T>C	noncoding	Benign
4	3476338	G	A	G3476338A	DOK7	NM_173660.5(DOK7):c.332-4G>A	noncoding	Benign
4	3476467	A	T	A3476467T	DOK7	NM_173660.5(DOK7):c.457A>T:p.Lys153Ter	coding	Pathogenic
4	3476490	C	A	C3476490A	DOK7	NM_173660.5(DOK7):c.480C>A:p.Tyr160Ter	coding	Pathogenic
4	3476523	C	T	C3476523T	DOK7	NM_173660.5(DOK7):c.513C>T:p.Gly171=	coding	Pathogenic/Likely_pathogenic
4	3476524	G	A	G3476524A	DOK7	NM_173660.5(DOK7):c.514G>A:p.Gly172Arg	coding	Pathogenic
4	3476596	T	C	T3476596C	DOK7	NM_173660.5(DOK7):c.532+54T>C	noncoding	Benign
4	3476664	C	A	C3476664A	DOK7	NM_173660.5(DOK7):c.532+122C>A	noncoding	Benign
4	3485372	A	G	A3485372G	DOK7	NM_173660.5(DOK7):c.533-167A>G	noncoding	Benign
4	3485424	A	G	A3485424G	DOK7	NM_173660.5(DOK7):c.533-115A>G	noncoding	Benign
4	3485545	G	C	G3485545C	DOK7	NM_173660.5(DOK7):c.539G>C:p.Gly180Ala	coding	Pathogenic
4	3485595	G	A	G3485595A	DOK7	NM_173660.5(DOK7):c.589G>A:p.Asp197Asn	coding	Benign
4	3485607	C	T	C3485607T	DOK7	NM_173660.5(DOK7):c.601C>T:p.Arg201Ter	coding	Pathogenic
4	3485708	G	A	G3485708A	DOK7	NM_173660.5(DOK7):c.652+50G>A	noncoding	Benign/Likely_benign
4	3485911	G	A	G3485911A	DOK7	NM_173660.5(DOK7):c.652+253G>A	noncoding	Benign
4	3489658	A	C	A3489658C	DOK7	NM_173660.5(DOK7):c.653-19A>C	noncoding	Benign
4	3489777	G	A	G3489777A	DOK7	NM_173660.5(DOK7):c.753G>A:p.Ala251=	coding	Benign
4	3489833	G	A	G3489833A	DOK7	NM_173660.5(DOK7):c.772+37G>A	noncoding	Benign
4	3489994	T	C	T3489994C	DOK7	NM_173660.5(DOK7):c.772+198T>C	noncoding	Benign
4	3492524	C	A	C3492524A	DOK7	NM_173660.5(DOK7):c.773-235C>A	noncoding	Benign
4	3492591	T	G	T3492591G	DOK7	NM_173660.5(DOK7):c.773-168T>G	noncoding	Benign
4	3492628	G	A	G3492628A	DOK7	NM_173660.5(DOK7):c.773-131G>A	noncoding	Benign
4	3492692	G	A	G3492692A	DOK7	NM_173660.5(DOK7):c.773-67G>A	noncoding	Benign
4	3492703	G	A	G3492703A	DOK7	NM_173660.5(DOK7):c.773-56G>A	noncoding	Benign
4	3492768	G	A	G3492768A	DOK7	NM_173660.5(DOK7):c.782G>A:p.Arg261His	coding	Benign
4	3492817	C	T	C3492817T	DOK7	NM_173660.5(DOK7):c.831C>T:p.Ala277=	coding	Benign
4	3492873	A	G	A3492873G	DOK7	NM_173660.5(DOK7):c.887A>G:p.Gln296Arg	coding	Benign
4	3492890	G	C	G3492890C	DOK7	NM_173660.5(DOK7):c.904G>C:p.Ala302Pro	coding	Benign
4	3492905	G	A	G3492905A	DOK7	NM_173660.5(DOK7):c.919G>A:p.Ala307Thr	coding	Benign
4	3492907	C	T	C3492907T	DOK7	NM_173660.5(DOK7):c.921C>T:p.Ala307=	coding	Benign/Likely_benign
4	3492953	C	T	C3492953T	DOK7	NM_173660.5(DOK7):c.967C>T:p.Arg323Cys	coding	Benign
4	3493006	C	T	C3493006T	DOK7	NM_173660.5(DOK7):c.1020C>T:p.Ile340=	coding	Benign
4	3493047	C	T	C3493047T	DOK7	NM_173660.5(DOK7):c.1061C>T:p.Ser354Phe	coding	Pathogenic
4	3493077	G	A	G3493077A	DOK7	NM_173660.5(DOK7):c.1091G>A:p.Arg364Gln	coding	Benign/Likely_benign
4	3493099	A	C	A3493099C	DOK7	NM_173660.5(DOK7):c.1113A>C:p.Ser371=	coding	Benign
4	3493120	G	A	G3493120A	DOK7	NM_173660.5(DOK7):c.1134G>A:p.Ala378=	coding	Benign
4	3493129	C	T	C3493129T	DOK7	NM_173660.5(DOK7):c.1143C>T:p.Pro381=	coding	Benign
4	3493171	C	T	C3493171T	DOK7	NM_173660.5(DOK7):c.1185C>T:p.Tyr395=	coding	Benign
4	3493190	C	T	C3493190T	DOK7	NM_173660.5(DOK7):c.1204C>T:p.Arg402Trp	coding	Benign
4	3493229	C	T	C3493229T	DOK7	NM_173660.5(DOK7):c.1243C>T:p.Pro415Ser	coding	Benign
4	3493276	G	A	G3493276A	DOK7	NM_173660.5(DOK7):c.1290G>A:p.Ala430=	coding	Benign
4	3493281	G	A	G3493281A	DOK7	NM_173660.5(DOK7):c.1295G>A:p.Arg432Lys	coding	Benign
4	3493303	C	T	C3493303T	DOK7	NM_173660.5(DOK7):c.1317C>T:p.Ser439=	coding	Benign
4	3493337	C	T	C3493337T	DOK7	NM_173660.5(DOK7):c.1351C>T:p.Arg451Trp	coding	Benign
4	3493368	G	A	G3493368A	DOK7	NM_173660.5(DOK7):c.1382G>A:p.Gly461Asp	coding	Benign
4	3493455	C	T	C3493455T	DOK7	NM_173660.5(DOK7):c.1469C>T:p.Ser490Leu	coding	Benign
4	3514824	G	A	G3514824A	LRPAP1	NM_002337.4(LRPAP1):c.939C>T:p.Asp313=	coding	Benign
4	3518190	T	C	T3518190C	LRPAP1	NM_002337.4(LRPAP1):c.595A>G:p.Ile199Val	coding	Benign
4	3518911	G	A	G3518911A	LRPAP1	NM_002337.4(LRPAP1):c.552C>T:p.His184=	coding	Benign
4	3518965	G	A	G3518965A	LRPAP1	NM_002337.4(LRPAP1):c.498C>T:p.Gly166=	coding	Benign
4	3518967	C	T	C3518967T	LRPAP1	NM_002337.4(LRPAP1):c.496G>A:p.Gly166Ser	coding	Benign
4	3524929	C	T	C3524929T	LRPAP1	NM_002337.4(LRPAP1):c.327G>A:p.Ala109=	coding	Benign
4	3532303	C	G	C3532303G	LRPAP1	NM_002337.4(LRPAP1):c.110G>C:p.Arg37Pro	coding	Benign
4	3532332	G	A	G3532332A	LRPAP1	NM_002337.4(LRPAP1):c.81C>T:p.Pro27=	coding	Benign
4	4303022	G	A	G4303022A	ZBTB49	NM_145291.4(ZBTB49):c.1186G>A:p.Ala396Thr	coding	Benign
4	4303036	C	T	C4303036T	ZBTB49	NM_145291.4(ZBTB49):c.1200C>T:p.Cys400=	coding	Benign
4	4320973	A	G	A4320973G	ZBTB49	NM_145291.4(ZBTB49):c.1955A>G:p.Tyr652Cys	coding	Benign
4	4859985	C	T	C4859985T	MSX1	NM_002448.3(MSX1):c.86C>T:p.Ala29Val	coding	Benign
4	4860018	C	G	C4860018G	MSX1	NM_002448.3(MSX1):c.119C>G:p.Ala40Gly	coding	Benign
4	4860026	A	C	A4860026C	MSX1	NM_002448.3(MSX1):c.127A>C:p.Met43Leu	coding	Benign
4	4860050	A	G	A4860050G	MSX1	NM_002448.3(MSX1):c.151A>G:p.Lys51Glu	coding	Benign
4	4860099	T	A	T4860099A	MSX1	NM_002448.3(MSX1):c.200T>A:p.Met67Lys	coding	Pathogenic
4	4860117	C	T	C4860117T	MSX1	NM_002448.3(MSX1):c.218C>T:p.Pro73Leu	coding	Benign
4	4860150	A	T	A4860150T	MSX1	NM_002448.3(MSX1):c.251A>T:p.Glu84Val	coding	Pathogenic
4	4860231	C	A	C4860231A	MSX1	NM_002448.3(MSX1):c.332C>A:p.Ser111Ter	coding	Pathogenic
4	4860264	G	A	G4860264A	MSX1	NM_002448.3(MSX1):c.365G>A:p.Gly122Glu	coding	Pathogenic
4	4860357	C	A	C4860357A	MSX1	NM_002448.3(MSX1):c.458C>A:p.Pro153Gln	coding	Pathogenic
4	4862792	G	A	G4862792A	MSX1	NM_002448.3(MSX1):c.561G>A:p.Leu187=	coding	Benign
4	4862808	C	T	C4862808T	MSX1	NM_002448.3(MSX1):c.577C>T:p.Gln193Ter	coding	Pathogenic
4	4862836	G	C	G4862836C	MSX1	NM_002448.3(MSX1):c.605G>C:p.Arg202Pro	coding	Pathogenic
4	4862854	C	A	C4862854A	MSX1	NM_002448.3(MSX1):c.623C>A:p.Ser208Ter	coding	Pathogenic
4	4862892	C	T	C4862892T	MSX1	NM_002448.3(MSX1):c.661C>T:p.Gln221Ter	coding	Pathogenic
4	4863419	A	G	A4863419G	MSX1	NM_002448.3(MSX1):c.*276A>G	noncoding	Benign
4	5051893	C	A	C5051893A	STK32B	NM_018401.3(STK32B):c.30C>A:p.Pro10=	coding	Benign
4	5331259	G	A	G5331259A	STK32B	NM_018401.3(STK32B):c.300G>A:p.Val100=	coding	Benign
4	5446665	G	A	G5446665A	STK32B	NM_018401.3(STK32B):c.563-8G>A	noncoding	Benign
4	5446665	G	T	G5446665T	STK32B	NM_018401.3(STK32B):c.563-8G>T	noncoding	Benign
4	5498979	T	C	T5498979C	STK32B	NM_018401.3(STK32B):c.1141T>C:p.Leu381=	coding	Benign
4	5562454	T	C	T5562454C	EVC2	NM_147127.5(EVC2):c.*394A>G	noncoding	Benign
4	5562464	A	T	A5562464T	EVC2	NM_147127.5(EVC2):c.*384T>A	noncoding	Benign
4	5562970	C	A	C5562970A	EVC2	NM_147127.5(EVC2):c.3805G>T:p.Gly1269Ter	coding	Pathogenic
4	5562978	A	C	A5562978C	EVC2	NM_147127.5(EVC2):c.3797T>G:p.Leu1266Ter	coding	Pathogenic
4	5562978	A	T	A5562978T	EVC2	NM_147127.5(EVC2):c.3797T>A:p.Leu1266Ter	coding	Pathogenic
4	5563133	G	T	G5563133T	EVC2	NM_147127.5(EVC2):c.3660-18C>A	noncoding	Benign
4	5565021	T	C	T5565021C	EVC2	NM_147127.5(EVC2):c.3659+237A>G	noncoding	Benign
4	5565250	A	G	A5565250G	EVC2	NM_147127.5(EVC2):c.3659+8T>C	noncoding	Benign/Likely_benign
4	5565256	A	G	A5565256G	EVC2	NM_147127.5(EVC2):c.3659+2T>C	noncoding	Pathogenic/Likely_pathogenic
4	5565319	G	A	G5565319A	EVC2	NM_147127.5(EVC2):c.3598C>T:p.Arg1200Ter	coding	Pathogenic/Likely_pathogenic
4	5565356	T	C	T5565356C	EVC2	NM_147127.5(EVC2):c.3561A>G:p.Lys1187=	coding	Benign/Likely_benign
4	5568434	C	T	C5568434T	EVC2	NM_147127.5(EVC2):c.3557+10G>A	noncoding	Benign
4	5568494	G	A	G5568494A	EVC2	NM_147127.5(EVC2):c.3507C>T:p.His1169=	coding	Benign
4	5568588	G	A	G5568588A	EVC2	NM_147127.5(EVC2):c.3413C>T:p.Thr1138Met	coding	Benign/Likely_benign
4	5568626	T	C	T5568626C	EVC2	NM_147127.5(EVC2):c.3375A>G:p.Ala1125=	coding	Benign/Likely_benign
4	5568729	G	T	G5568729T	EVC2	NM_147127.5(EVC2):c.3361-89C>A	noncoding	Benign
4	5574413	T	C	T5574413C	EVC2	NM_147127.5(EVC2):c.3360+272A>G	noncoding	Benign
4	5576020	C	T	C5576020T	EVC2	NM_147127.5(EVC2):c.3272+220G>A	noncoding	Benign
4	5576232	C	G	C5576232G	EVC2	NM_147127.5(EVC2):c.3272+8G>C	noncoding	Benign
4	5576232	C	T	C5576232T	EVC2	NM_147127.5(EVC2):c.3272+8G>A	noncoding	Benign/Likely_benign
4	5576247	G	A	G5576247A	EVC2	NM_147127.5(EVC2):c.3265C>T:p.Gln1089Ter	coding	Pathogenic
4	5576259	G	A	G5576259A	EVC2	NM_147127.5(EVC2):c.3253C>T:p.Leu1085=	coding	Benign
4	5576307	G	A	G5576307A	EVC2	NM_147127.5(EVC2):c.3205C>T:p.Gln1069Ter	coding	Pathogenic
4	5576372	C	T	C5576372T	EVC2	NM_147127.5(EVC2):c.3140G>A:p.Trp1047Ter	coding	Pathogenic
4	5576374	G	C	G5576374C	EVC2	NM_147127.5(EVC2):c.3138C>G:p.Ser1046Arg	coding	Benign/Likely_benign
4	5576391	G	A	G5576391A	EVC2	NM_147127.5(EVC2):c.3121C>T:p.Gln1041Ter	coding	Pathogenic
4	5584640	G	C	G5584640C	EVC2	NM_147127.5(EVC2):c.3040C>G:p.Leu1014Val	coding	Benign
4	5584656	C	T	C5584656T	EVC2	NM_147127.5(EVC2):c.3024G>A:p.Ser1008=	coding	Benign
4	5584657	G	A	G5584657A	EVC2	NM_147127.5(EVC2):c.3023C>T:p.Ser1008Leu	coding	Benign
4	5584797	T	G	T5584797G	EVC2	NM_147127.5(EVC2):c.2883A>C:p.Gly961=	coding	Benign/Likely_benign
4	5584817	G	A	G5584817A	EVC2	NM_147127.5(EVC2):c.2863C>T:p.Arg955Trp	coding	Benign
4	5584847	G	A	G5584847A	EVC2	NM_147127.5(EVC2):c.2833C>T:p.Arg945Ter	coding	Pathogenic
4	5615219	G	C	G5615219C	EVC2	NM_147127.5(EVC2):c.2829+203C>G	noncoding	Benign
4	5615549	A	G	A5615549G	EVC2	NM_147127.5(EVC2):c.2707-5T>C	noncoding	Benign
4	5615568	T	C	T5615568C	EVC2	NM_147127.5(EVC2):c.2707-24A>G	noncoding	Benign
4	5615610	G	A	G5615610A	EVC2	NM_147127.5(EVC2):c.2707-66C>T	noncoding	Benign
4	5615681	G	A	G5615681A	EVC2	NM_147127.5(EVC2):c.2707-137C>T	noncoding	Benign
4	5615691	G	C	G5615691C	EVC2	NM_147127.5(EVC2):c.2707-147C>G	noncoding	Benign
4	5618531	G	A	G5618531A	EVC2	NM_147127.5(EVC2):c.2653C>T:p.Arg885Ter	coding	Pathogenic
4	5618536	G	A	G5618536A	EVC2	NM_147127.5(EVC2):c.2648C>T:p.Ala883Val	coding	Benign/Likely_benign
4	5618563	C	T	C5618563T	EVC2	NM_147127.5(EVC2):c.2621G>A:p.Arg874Gln	coding	Benign/Likely_benign
4	5618564	G	A	G5618564A	EVC2	NM_147127.5(EVC2):c.2620C>T:p.Arg874Ter	coding	Pathogenic/Likely_pathogenic
4	5618583	G	A	G5618583A	EVC2	NM_147127.5(EVC2):c.2601C>T:p.Ala867=	coding	Benign/Likely_benign
4	5618613	G	A	G5618613A	EVC2	NM_147127.5(EVC2):c.2571C>T:p.Gly857=	coding	Benign
4	5618645	C	A	C5618645A	EVC2	NM_147127.5(EVC2):c.2539G>T:p.Glu847Ter	coding	Pathogenic
4	5618922	C	T	C5618922T	EVC2	NM_147127.5(EVC2):c.2502-240G>A	noncoding	Benign
4	5622383	G	A	G5622383A	EVC2	NM_147127.5(EVC2):c.2501+154C>T	noncoding	Benign
4	5622496	C	T	C5622496T	EVC2	NM_147127.5(EVC2):c.2501+41G>A	noncoding	Benign
4	5622551	C	T	C5622551T	EVC2	NM_147127.5(EVC2):c.2487G>A:p.Glu829=	coding	Benign/Likely_benign
4	5622554	C	T	C5622554T	EVC2	NM_147127.5(EVC2):c.2484G>A:p.Trp828Ter	coding	Pathogenic/Likely_pathogenic
4	5622562	G	A	G5622562A	EVC2	NM_147127.5(EVC2):c.2476C>T:p.Arg826Ter	coding	Pathogenic
4	5622640	G	A	G5622640A	EVC2	NM_147127.5(EVC2):c.2398C>T:p.Gln800Ter	coding	Pathogenic
4	5622643	C	G	C5622643G	EVC2	NM_147127.5(EVC2):c.2395G>C:p.Asp799His	coding	Benign
4	5622644	C	T	C5622644T	EVC2	NM_147127.5(EVC2):c.2394G>A:p.Arg798=	coding	Benign
4	5622670	G	A	G5622670A	EVC2	NM_147127.5(EVC2):c.2368C>T:p.Gln790Ter	coding	Pathogenic
4	5622728	C	A	C5622728A	EVC2	NM_147127.5(EVC2):c.2310G>T:p.Trp770Cys	coding	Benign
4	5622775	G	A	G5622775A	EVC2	NM_147127.5(EVC2):c.2263C>T:p.Gln755Ter	coding	Pathogenic/Likely_pathogenic
4	5622803	T	C	T5622803C	EVC2	NM_147127.5(EVC2):c.2235A>G:p.Glu745=	coding	Benign
4	5622860	C	T	C5622860T	EVC2	NM_147127.5(EVC2):c.2178G>A:p.Glu726=	coding	Benign
4	5622887	G	A	G5622887A	EVC2	NM_147127.5(EVC2):c.2151C>T:p.His717=	coding	Benign/Likely_benign
4	5622943	T	C	T5622943C	EVC2	NM_147127.5(EVC2):c.2095A>G:p.Thr699Ala	coding	Benign
4	5622946	G	A	G5622946A	EVC2	NM_147127.5(EVC2):c.2092C>T:p.Arg698Ter	coding	Pathogenic
4	5622961	C	T	C5622961T	EVC2	NM_147127.5(EVC2):c.2077G>A:p.Val693Ile	coding	Benign
4	5622977	A	G	A5622977G	EVC2	NM_147127.5(EVC2):c.2061T>C:p.Arg687=	coding	Benign
4	5623000	T	A	T5623000A	EVC2	NM_147127.5(EVC2):c.2047-9A>T	noncoding	Benign/Likely_benign
4	5625744	T	C	T5625744C	EVC2	NM_147127.5(EVC2):c.2046+5A>G	noncoding	Benign
4	5625766	G	A	G5625766A	EVC2	NM_147127.5(EVC2):c.2029C>T:p.Arg677Ter	coding	Pathogenic
4	5625841	T	C	T5625841C	EVC2	NM_147127.5(EVC2):c.1954A>G:p.Ile652Val	coding	Benign/Likely_benign
4	5628397	G	A	G5628397A	EVC2	NM_147127.5(EVC2):c.1886+162C>T	noncoding	Benign
4	5628530	C	T	C5628530T	EVC2	NM_147127.5(EVC2):c.1886+29G>A	noncoding	Benign
4	5628563	C	T	C5628563T	EVC2	NM_147127.5(EVC2):c.1882G>A:p.Glu628Lys	coding	Benign/Likely_benign
4	5628590	G	A	G5628590A	EVC2	NM_147127.5(EVC2):c.1855C>T:p.Gln619Ter	coding	Pathogenic
4	5628600	G	A	G5628600A	EVC2	NM_147127.5(EVC2):c.1845C>T:p.Thr615=	coding	Benign/Likely_benign
4	5628715	A	G	A5628715G	EVC2	NM_147127.5(EVC2):c.1730T>C:p.Met577Thr	coding	Benign/Likely_benign
4	5628754	A	C	A5628754C	EVC2	NM_147127.5(EVC2):c.1711-20T>G	noncoding	Benign
4	5631478	G	A	G5631478A	EVC2	NM_147127.5(EVC2):c.1710+315C>T	noncoding	Benign
4	5631509	A	G	A5631509G	EVC2	NM_147127.5(EVC2):c.1710+284T>C	noncoding	Benign
4	5631795	G	A	G5631795A	EVC2	NM_147127.5(EVC2):c.1708C>T:p.Gln570Ter	coding	Pathogenic
4	5631897	C	A	C5631897A	EVC2	NM_147127.5(EVC2):c.1606G>T:p.Glu536Ter	coding	Pathogenic
4	5632038	G	A	G5632038A	EVC2	NM_147127.5(EVC2):c.1471-6C>T	noncoding	Benign/Likely_benign
4	5632039	A	G	A5632039G	EVC2	NM_147127.5(EVC2):c.1471-7T>C	noncoding	Benign/Likely_benign
4	5632100	G	A	G5632100A	EVC2	NM_147127.5(EVC2):c.1471-68C>T	noncoding	Benign
4	5632268	C	T	C5632268T	EVC2	NM_147127.5(EVC2):c.1471-236G>A	noncoding	Benign
4	5640414	C	T	C5640414T	EVC2	NM_147127.5(EVC2):c.1470+100G>A	noncoding	Benign
4	5640547	T	C	T5640547C	EVC2	NM_147127.5(EVC2):c.1437A>G:p.Glu479=	coding	Benign
4	5640600	T	C	T5640600C	EVC2	NM_147127.5(EVC2):c.1384A>G:p.Thr462Ala	coding	Benign
4	5640643	G	A	G5640643A	EVC2	NM_147127.5(EVC2):c.1341C>T:p.Tyr447=	coding	Benign/Likely_benign
4	5640673	T	C	T5640673C	EVC2	NM_147127.5(EVC2):c.1311A>G:p.Leu437=	coding	Benign/Likely_benign
4	5640760	G	A	G5640760A	EVC2	NM_147127.5(EVC2):c.1224C>T:p.Ala408=	coding	Benign/Likely_benign
4	5640776	C	T	C5640776T	EVC2	NM_147127.5(EVC2):c.1208G>A:p.Ser403Asn	coding	Benign
4	5640786	T	C	T5640786C	EVC2	NM_147127.5(EVC2):c.1198A>G:p.Thr400Ala	coding	Benign
4	5640789	G	A	G5640789A	EVC2	NM_147127.5(EVC2):c.1195C>T:p.Arg399Ter	coding	Pathogenic
4	5640843	G	C	G5640843C	EVC2	NM_147127.5(EVC2):c.1146-5C>G	noncoding	Benign
4	5640885	C	G	C5640885G	EVC2	NM_147127.5(EVC2):c.1146-47G>C	noncoding	Benign
4	5641029	T	C	T5641029C	EVC2	NM_147127.5(EVC2):c.1146-191A>G	noncoding	Benign
4	5641079	T	A	T5641079A	EVC2	NM_147127.5(EVC2):c.1146-241A>T	noncoding	Benign
4	5662929	A	T	A5662929T	EVC2	NM_147127.5(EVC2):c.1145+178T>A	noncoding	Benign
4	5663193	G	A	G5663193A	EVC2	NM_147127.5(EVC2):c.1059C>T:p.Gly353=	coding	Benign
4	5663212	G	A	G5663212A	EVC2	NM_147127.5(EVC2):c.1040C>T:p.Pro347Leu	coding	Benign
4	5663228	T	A	T5663228A	EVC2	NM_147127.5(EVC2):c.1024A>T:p.Lys342Ter	coding	Pathogenic
4	5663300	G	A	G5663300A	EVC2	NM_147127.5(EVC2):c.1006-54C>T	noncoding	Benign
4	5663474	G	A	G5663474A	EVC2	NM_147127.5(EVC2):c.1006-228C>T	noncoding	Benign
4	5663534	A	C	A5663534C	EVC2	NM_147127.5(EVC2):c.1006-288T>G	noncoding	Benign
4	5663576	A	C	A5663576C	EVC2	NM_147127.5(EVC2):c.1006-330T>G	noncoding	Benign
4	5665406	G	A	G5665406A	EVC2	NM_147127.5(EVC2):c.1005+109C>T	noncoding	Benign
4	5665407	C	A	C5665407A	EVC2	NM_147127.5(EVC2):c.1005+108G>T	noncoding	Benign
4	5665578	C	T	C5665578T	EVC2	NM_147127.5(EVC2):c.942G>A:p.Trp314Ter	coding	Pathogenic/Likely_pathogenic
4	5665616	A	T	A5665616T	EVC2	NM_147127.5(EVC2):c.904T>A:p.Phe302Ile	coding	Benign/Likely_benign
4	5665834	C	T	C5665834T	EVC2	NM_147127.5(EVC2):c.871-185G>A	noncoding	Benign
4	5665944	T	C	T5665944C	EVC2	NM_147127.5(EVC2):c.871-295A>G	noncoding	Benign
4	5681013	T	A	T5681013A	EVC2	NM_147127.5(EVC2):c.870+247A>T	noncoding	Benign
4	5681084	G	A	G5681084A	EVC2	NM_147127.5(EVC2):c.870+176C>T	noncoding	Benign
4	5681266	G	A	G5681266A	EVC2	NM_147127.5(EVC2):c.864C>T:p.Asn288=	coding	Benign/Likely_benign
4	5681282	A	C	A5681282C	EVC2	NM_147127.5(EVC2):c.848T>G:p.Ile283Arg	coding	Pathogenic
4	5685197	G	A	G5685197A	EVC2	NM_147127.5(EVC2):c.816+173C>T	noncoding	Benign
4	5685240	C	T	C5685240T	EVC2	NM_147127.5(EVC2):c.816+130G>A	noncoding	Benign
4	5685372	G	A	G5685372A	EVC2	NM_147127.5(EVC2):c.814C>T:p.Arg272Trp	coding	Benign
4	5685417	C	A	C5685417A	EVC2	NM_147127.5(EVC2):c.769G>T:p.Glu257Ter	coding	Pathogenic/Likely_pathogenic
4	5685441	G	A	G5685441A	EVC2	NM_147127.5(EVC2):c.745C>T:p.Gln249Ter	coding	Pathogenic
4	5685481	T	C	T5685481C	EVC2	NM_147127.5(EVC2):c.707-2A>G	noncoding	Pathogenic
4	5685481	T	G	T5685481G	EVC2	NM_147127.5(EVC2):c.707-2A>C	noncoding	Pathogenic
4	5685483	C	T	C5685483T	EVC2	NM_147127.5(EVC2):c.707-4G>A	noncoding	Benign/Likely_benign
4	5685530	G	A	G5685530A	EVC2	NM_147127.5(EVC2):c.707-51C>T	noncoding	Benign
4	5688857	C	T	C5688857T	EVC2	NM_147127.5(EVC2):c.706+300G>A	noncoding	Benign
4	5688884	T	G	T5688884G	EVC2	NM_147127.5(EVC2):c.706+273A>C	noncoding	Benign
4	5689171	T	C	T5689171C	EVC2	NM_147127.5(EVC2):c.692A>G:p.Lys231Arg	coding	Benign
4	5689175	T	C	T5689175C	EVC2	NM_147127.5(EVC2):c.688A>G:p.Ser230Gly	coding	Benign
4	5689188	T	C	T5689188C	EVC2	NM_147127.5(EVC2):c.675A>G:p.Gly225=	coding	Benign/Likely_benign
4	5689195	G	T	G5689195T	EVC2	NM_147127.5(EVC2):c.668C>A:p.Ser223Ter	coding	Pathogenic
4	5689218	C	T	C5689218T	EVC2	NM_147127.5(EVC2):c.645G>A:p.Trp215Ter	coding	Pathogenic
4	5689219	C	T	C5689219T	EVC2	NM_147127.5(EVC2):c.644G>A:p.Trp215Ter	coding	Pathogenic
4	5689472	C	T	C5689472T	EVC2	NM_147127.5(EVC2):c.520-129G>A	noncoding	Benign
4	5689593	A	C	A5689593C	EVC2	NM_147127.5(EVC2):c.520-250T>G	noncoding	Benign
4	5691250	C	T	C5691250T	EVC2	NM_147127.5(EVC2):c.519+15G>A	noncoding	Benign
4	5691263	A	G	A5691263G	EVC2	NM_147127.5(EVC2):c.519+2T>C	noncoding	Pathogenic
4	5691385	C	T	C5691385T	EVC2	NM_147127.5(EVC2):c.451-52G>A	noncoding	Benign
4	5691632	C	T	C5691632T	EVC2	NM_147127.5(EVC2):c.451-299G>A	noncoding	Benign
4	5694043	C	G	C5694043G	EVC2	NM_147127.5(EVC2):c.450+292G>C	noncoding	Benign
4	5694444	G	C	G5694444C	EVC2	NM_147127.5(EVC2):c.341C>G:p.Ser114Ter	coding	Pathogenic
4	5694478	A	G	A5694478G	EVC2	NM_147127.5(EVC2):c.307T>C:p.Leu103=	coding	Benign
4	5694656	T	C	T5694656C	EVC2	NM_147127.5(EVC2):c.284-155A>G	noncoding	Benign
4	5697370	G	A	G5697370A	EVC2	NM_147127.5(EVC2):c.283+223C>T	noncoding	Benign
4	5708305	C	A	C5708305A	EVC2	NM_147127.5(EVC2):c.209G>T:p.Gly70Val	coding	Benign
4	5708462	G	A	G5708462A	EVC;EVC2	NM_147127.5(EVC2):c.52C>T:p.Leu18Phe	coding	Benign
4	5708528	C	T	C5708528T	EVC;EVC2	NM_147127.5(EVC2):c.-15G>A	noncoding	Benign/Likely_benign
4	5708532	A	G	A5708532G	EVC;EVC2	NM_147127.5(EVC2):c.-19T>C	noncoding	Benign/Likely_benign
4	5711382	T	A	T5711382A	EVC	NM_153717.3(EVC):c.2T>A:p.Met1Lys	coding	Pathogenic
4	5711542	C	T	C5711542T	EVC	NM_153717.3(EVC):c.162C>T:p.Arg54=	coding	Benign
4	5711585	G	C	G5711585C	EVC	NM_153717.3(EVC):c.174+31G>C	noncoding	Benign
4	5711792	T	A	T5711792A	EVC	NM_153717.3(EVC):c.174+238T>A	noncoding	Benign
4	5719294	A	C	A5719294C	EVC	NM_153717.3(EVC):c.221A>C:p.Gln74Pro	coding	Benign
4	5719322	A	G	A5719322G	EVC	NM_153717.3(EVC):c.249A>G:p.Ser83=	coding	Benign
4	5719586	C	T	C5719586T	EVC	NM_153717.3(EVC):c.300+213C>T	noncoding	Benign
4	5729227	G	A	G5729227A	EVC	NM_153717.3(EVC):c.301-80G>A	noncoding	Benign
4	5729347	C	T	C5729347T	EVC	NM_153717.3(EVC):c.341C>T:p.Ala114Val	coding	Benign
4	5729369	C	A	C5729369A	EVC	NM_153717.3(EVC):c.363C>A:p.Tyr121Ter	coding	Pathogenic/Likely_pathogenic
4	5729431	C	T	C5729431T	EVC	NM_153717.3(EVC):c.384+41C>T	noncoding	Benign
4	5731255	T	A	T5731255A	EVC	NM_153717.3(EVC):c.385-170T>A	noncoding	Benign
4	5731409	C	T	C5731409T	EVC	NM_153717.3(EVC):c.385-16C>T	noncoding	Benign
4	5731509	C	G	C5731509G	EVC	NM_153717.3(EVC):c.469C>G:p.Pro157Ala	coding	Benign/Likely_benign
4	5731513	C	G	C5731513G	EVC	NM_153717.3(EVC):c.473C>G:p.Ser158Cys	coding	Benign
4	5731652	C	A	C5731652A	EVC	NM_153717.3(EVC):c.612C>A:p.Cys204Ter	coding	Pathogenic
4	5741771	C	G	C5741771G	EVC	NM_153717.3(EVC):c.758C>G:p.Ser253Ter	coding	Pathogenic
4	5741782	C	T	C5741782T	EVC	NM_153717.3(EVC):c.769C>T:p.Leu257=	coding	Benign
4	5741785	T	C	T5741785C	EVC	NM_153717.3(EVC):c.772T>C:p.Tyr258His	coding	Benign
4	5741793	G	A	G5741793A	EVC	NM_153717.3(EVC):c.780G>A:p.Lys260=	coding	Benign
4	5744893	T	C	T5744893C	EVC	NM_153717.3(EVC):c.802-311T>C	noncoding	Benign
4	5745189	C	T	C5745189T	EVC	NM_153717.3(EVC):c.802-15C>T	noncoding	Benign
4	5745231	C	T	C5745231T	EVC	NM_153717.3(EVC):c.829C>T:p.Gln277Ter	coding	Pathogenic
4	5745321	T	C	T5745321C	EVC	NM_153717.3(EVC):c.919T>C:p.Ser307Pro	coding	Pathogenic/Likely_pathogenic
4	5745345	C	T	C5745345T	EVC	NM_153717.3(EVC):c.939+4C>T	noncoding	Benign
4	5745350	C	T	C5745350T	EVC	NM_153717.3(EVC):c.939+9C>T	noncoding	Benign/Likely_benign
4	5745351	A	G	A5745351G	EVC	NM_153717.3(EVC):c.939+10A>G	noncoding	Benign
4	5745352	G	T	G5745352T	EVC	NM_153717.3(EVC):c.939+11G>T	noncoding	Benign
4	5745565	C	T	C5745565T	EVC	NM_153717.3(EVC):c.939+224C>T	noncoding	Benign
4	5748177	T	C	T5748177C	EVC	NM_153717.3(EVC):c.969T>C:p.Asn323=	coding	Benign
4	5748181	C	T	C5748181T	EVC	NM_153717.3(EVC):c.973C>T:p.Gln325Ter	coding	Pathogenic
4	5748226	C	T	C5748226T	EVC	NM_153717.3(EVC):c.1018C>T:p.Arg340Ter	coding	Pathogenic
4	5748234	G	C	G5748234C	EVC	NM_153717.3(EVC):c.1026G>C:p.Leu342=	coding	Benign
4	5748276	A	G	A5748276G	EVC	NM_153717.3(EVC):c.1068A>G:p.Leu356=	coding	Benign
4	5748304	C	T	C5748304T	EVC	NM_153717.3(EVC):c.1096C>T:p.Leu366=	coding	Benign
4	5748429	A	G	A5748429G	EVC	NM_153717.3(EVC):c.1098+123A>G	noncoding	Benign
4	5752628	C	A	C5752628A	EVC	NM_153717.3(EVC):c.1099-208C>A	noncoding	Benign
4	5752628	C	T	C5752628T	EVC	NM_153717.3(EVC):c.1099-208C>T	noncoding	Benign
4	5752669	G	C	G5752669C	EVC	NM_153717.3(EVC):c.1099-167G>C	noncoding	Benign
4	5752817	T	C	T5752817C	EVC	NM_153717.3(EVC):c.1099-19T>C	noncoding	Benign
4	5752852	C	T	C5752852T	EVC	NM_153717.3(EVC):c.1115C>T:p.Thr372Met	coding	Benign
4	5752864	C	T	C5752864T	EVC	NM_153717.3(EVC):c.1127C>T:p.Ala376Val	coding	Benign/Likely_benign
4	5753006	G	A	G5753006A	EVC	NM_153717.3(EVC):c.1269G>A:p.Thr423=	coding	Benign
4	5753050	G	A	G5753050A	EVC	NM_153717.3(EVC):c.1313G>A:p.Arg438Gln	coding	Benign/Likely_benign
4	5753323	C	T	C5753323T	EVC	NM_153717.3(EVC):c.1315+271C>T	noncoding	Benign
4	5753565	G	A	G5753565A	EVC	NM_153717.3(EVC):c.1316-220G>A	noncoding	Benign
4	5753646	G	C	G5753646C	EVC	NM_153717.3(EVC):c.1316-139G>C	noncoding	Benign
4	5753789	T	A	T5753789A	EVC	NM_153717.3(EVC):c.1320T>A:p.Phe440Leu	coding	Benign
4	5753797	G	A	G5753797A	EVC	NM_153717.3(EVC):c.1328G>A:p.Arg443Gln	coding	Benign
4	5753802	A	C	A5753802C	EVC	NM_153717.3(EVC):c.1333A>C:p.Lys445Gln	coding	Benign
4	5753815	C	A	C5753815A	EVC	NM_153717.3(EVC):c.1346C>A:p.Thr449Lys	coding	Benign
4	5753897	G	C	G5753897C	EVC	NM_153717.3(EVC):c.1428G>C:p.Glu476Asp	coding	Benign
4	5753941	A	G	A5753941G	EVC	NM_153717.3(EVC):c.1464+8A>G	noncoding	Benign
4	5754110	T	A	T5754110A	EVC	NM_153717.3(EVC):c.1464+177T>A	noncoding	Benign
4	5754169	G	T	G5754169T	EVC	NM_153717.3(EVC):c.1464+236G>T	noncoding	Benign
4	5755979	A	G	A5755979G	EVC	NM_153717.3(EVC):c.1465-285A>G	noncoding	Benign
4	5756217	A	C	A5756217C	EVC	NM_153717.3(EVC):c.1465-47A>C	noncoding	Benign
4	5756547	A	G	A5756547G	EVC	NM_153717.3(EVC):c.1563+185A>G	noncoding	Benign
4	5758116	G	A	G5758116A	EVC	NM_153717.3(EVC):c.1563+1754G>A	coding	Benign
4	5783546	C	T	C5783546T	EVC	NM_153717.3(EVC):c.1564-6C>T	noncoding	Benign/Likely_benign
4	5783656	C	G	C5783656G	EVC	NM_153717.3(EVC):c.1668C>G:p.Tyr556Ter	coding	Pathogenic
4	5783666	G	T	G5783666T	EVC	NM_153717.3(EVC):c.1678G>T:p.Glu560Ter	coding	Pathogenic/Likely_pathogenic
4	5783672	C	T	C5783672T	EVC	NM_153717.3(EVC):c.1684C>T:p.Gln562Ter	coding	Pathogenic
4	5783715	G	A	G5783715A	EVC	NM_153717.3(EVC):c.1727G>A:p.Arg576Gln	coding	Benign
4	5783970	C	G	C5783970G	EVC	NM_153717.3(EVC):c.1776+206C>G	noncoding	Benign
4	5793602	G	A	G5793602A	EVC	NM_153717.3(EVC):c.1777-6G>A	noncoding	Benign
4	5793606	A	G	A5793606G	EVC	NM_153717.3(EVC):c.1777-2A>G	noncoding	Pathogenic/Likely_pathogenic
4	5793644	C	T	C5793644T	EVC	NM_153717.3(EVC):c.1813C>T:p.Gln605Ter	coding	Pathogenic
4	5793685	C	T	C5793685T	EVC	NM_153717.3(EVC):c.1854C>T:p.Gly618=	coding	Benign
4	5793686	G	A	G5793686A	EVC	NM_153717.3(EVC):c.1855G>A:p.Val619Ile	coding	Benign/Likely_benign
4	5793695	C	T	C5793695T	EVC	NM_153717.3(EVC):c.1864C>T:p.Arg622Ter	coding	Pathogenic
4	5793722	G	T	G5793722T	EVC	NM_153717.3(EVC):c.1886+5G>T	noncoding	Pathogenic
4	5793889	C	A	C5793889A	EVC	NM_153717.3(EVC):c.1886+172C>A	noncoding	Benign
4	5793919	G	C	G5793919C	EVC	NM_153717.3(EVC):c.1886+202G>C	noncoding	Benign
4	5793970	C	T	C5793970T	EVC	NM_153717.3(EVC):c.1886+253C>T	noncoding	Benign
4	5793983	G	A	G5793983A	EVC	NM_153717.3(EVC):c.1886+266G>A	noncoding	Benign
4	5796900	G	A	G5796900A	EVC	NM_153717.3(EVC):c.1887-122G>A	noncoding	Benign
4	5797130	G	A	G5797130A	EVC	NM_153717.3(EVC):c.1995G>A:p.Ser665=	coding	Benign/Likely_benign
4	5797149	C	T	C5797149T	EVC	NM_153717.3(EVC):c.2014C>T:p.Gln672Ter	coding	Pathogenic
4	5797343	A	C	A5797343C	EVC	NM_153717.3(EVC):c.2097+111A>C	noncoding	Benign
4	5798634	C	T	C5798634T	EVC	NM_153717.3(EVC):c.2146C>T:p.Gln716Ter	coding	Pathogenic
4	5798652	C	T	C5798652T	EVC	NM_153717.3(EVC):c.2164C>T:p.Gln722Ter	coding	Pathogenic/Likely_pathogenic
4	5798729	G	A	G5798729A	EVC	NM_153717.3(EVC):c.2241G>A:p.Ala747=	coding	Benign/Likely_benign
4	5798767	G	A	G5798767A	EVC	NM_153717.3(EVC):c.2279G>A:p.Arg760Gln	coding	Benign
4	5798794	T	C	T5798794C	EVC	NM_153717.3(EVC):c.2304+2T>C	noncoding	Pathogenic/Likely_pathogenic
4	5801906	C	T	C5801906T	EVC	NM_153717.3(EVC):c.2305-44C>T	noncoding	Benign
4	5801942	T	C	T5801942C	EVC	NM_153717.3(EVC):c.2305-8T>C	noncoding	Benign
4	5802008	G	A	G5802008A	EVC	NM_153717.3(EVC):c.2363G>A:p.Arg788His	coding	Benign
4	5802018	G	A	G5802018A	EVC	NM_153717.3(EVC):c.2373G>A:p.Gln791=	coding	Benign
4	5802091	C	T	C5802091T	EVC	NM_153717.3(EVC):c.2446C>T:p.Gln816Ter	coding	Pathogenic
4	5804785	G	A	G5804785A	EVC	NM_153717.3(EVC):c.2505G>A:p.Ser835=	coding	Benign/Likely_benign
4	5804985	G	T	G5804985T	EVC	NM_153717.3(EVC):c.2561+144G>T	noncoding	Benign
4	5805062	A	G	A5805062G	EVC	NM_153717.3(EVC):c.2561+221A>G	noncoding	Benign
4	5808197	C	G	C5808197G	EVC	NM_153717.3(EVC):c.2562-4C>G	noncoding	Benign
4	5808274	C	T	C5808274T	EVC	NM_153717.3(EVC):c.2635C>T:p.Gln879Ter	coding	Pathogenic
4	5809536	A	G	A5809536G	EVC	NM_153717.3(EVC):c.2707A>G:p.Ile903Val	coding	Benign
4	5809560	C	T	C5809560T	EVC	NM_153717.3(EVC):c.2731C>T:p.Arg911Ter	coding	Pathogenic
4	5809612	G	T	G5809612T	EVC	NM_153717.3(EVC):c.2782+1G>T	coding	Pathogenic/Likely_pathogenic
4	5809714	C	T	C5809714T	EVC	NM_153717.3(EVC):c.2782+103C>T	noncoding	Benign
4	5809756	G	T	G5809756T	EVC	NM_153717.3(EVC):c.2782+145G>T	noncoding	Benign
4	5809784	G	T	G5809784T	EVC	NM_153717.3(EVC):c.2782+173G>T	noncoding	Benign
4	5810428	G	A	G5810428A	EVC	NM_153717.3(EVC):c.2872G>A:p.Asp958Asn	coding	Benign
4	5810453	A	G	A5810453G	EVC	NM_153717.3(EVC):c.2894+3A>G	noncoding	Pathogenic/Likely_pathogenic
4	5810468	A	G	A5810468G	EVC	NM_153717.3(EVC):c.2894+18A>G	noncoding	Benign
4	5810698	A	T	A5810698T	EVC	NM_153717.3(EVC):c.2894+248A>T	noncoding	Benign
4	5810704	T	C	T5810704C	EVC	NM_153717.3(EVC):c.2895-249T>C	noncoding	Benign
4	5810839	A	G	A5810839G	EVC	NM_153717.3(EVC):c.2895-114A>G	noncoding	Benign
4	5811051	G	A	G5811051A	EVC	NM_153717.3(EVC):c.*14G>A	noncoding	Benign
4	5811090	T	C	T5811090C	EVC	NM_153717.3(EVC):c.*53T>C	noncoding	Benign
4	5811247	C	A	C5811247A	EVC	NM_153717.3(EVC):c.*210C>A	noncoding	Benign
4	5811652	C	T	C5811652T	EVC	NM_153717.3(EVC):c.*615C>T	noncoding	Benign
4	5811968	T	C	T5811968C	EVC	NM_153717.3(EVC):c.*931T>C	noncoding	Benign
4	5812685	T	C	T5812685C	EVC	NM_153717.3(EVC):c.*1648T>C	noncoding	Benign
4	5812737	C	T	C5812737T	EVC	NM_153717.3(EVC):c.*1700C>T	noncoding	Benign
4	5812886	C	G	C5812886G	EVC	NM_153717.3(EVC):c.*1849C>G	noncoding	Benign
4	5813046	T	C	T5813046C	EVC	NM_153717.3(EVC):c.*2009T>C	noncoding	Benign
4	5813169	A	G	A5813169G	EVC	NM_153717.3(EVC):c.*2132A>G	noncoding	Benign
4	5813503	G	A	G5813503A	EVC	NM_153717.3(EVC):c.*2466G>A	noncoding	Benign
4	5813654	G	A	G5813654A	EVC	NM_153717.3(EVC):c.*2617G>A	noncoding	Benign
4	5813717	G	A	G5813717A	EVC	NM_153717.3(EVC):c.*2680G>A	noncoding	Benign
4	5813745	G	A	G5813745A	EVC	NM_153717.3(EVC):c.*2708G>A	noncoding	Benign
4	5813750	C	T	C5813750T	EVC	NM_153717.3(EVC):c.*2713C>T	noncoding	Benign
4	5813908	C	T	C5813908T	EVC	NM_153717.3(EVC):c.*2871C>T	noncoding	Benign
4	5814202	T	C	T5814202C	EVC	NM_153717.3(EVC):c.*3165T>C	noncoding	Benign
4	5825642	C	G	C5825642G	CRMP1	NM_001014809.3(CRMP1):c.1821G>C:p.Gly607=	coding	Benign
4	5835966	G	T	G5835966T	CRMP1	NM_001014809.3(CRMP1):c.1572C>A:p.Val524=	coding	Benign
4	5836819	G	C	G5836819C	CRMP1	NM_001014809.3(CRMP1):c.1398C>G:p.Pro466=	coding	Benign
4	5841390	C	T	C5841390T	CRMP1	NM_001014809.3(CRMP1):c.1071G>A:p.Ala357=	coding	Benign
4	5841396	G	C	G5841396C	CRMP1	NM_001014809.3(CRMP1):c.1065C>G:p.Thr355=	coding	Benign
4	5843169	A	G	A5843169G	CRMP1	NM_001014809.3(CRMP1):c.964-8T>C	noncoding	Benign
4	5856135	T	C	T5856135C	CRMP1	NM_001014809.3(CRMP1):c.820+8A>G	noncoding	Benign
4	5856182	C	G	C5856182G	CRMP1	NM_001014809.3(CRMP1):c.781G>C:p.Gly261Arg	coding	Benign
4	5856264	A	C	A5856264C	CRMP1	NM_001014809.3(CRMP1):c.699T>G:p.Ser233=	coding	Benign
4	6036057	C	T	C6036057T	JAKMIP1	NM_001099433.2(JAKMIP1):c.2226G>A:p.Pro742=	coding	Benign
4	6036072	C	T	C6036072T	JAKMIP1	NM_001099433.2(JAKMIP1):c.2211G>A:p.Ala737=	coding	Benign
4	6042198	G	A	G6042198A	JAKMIP1	NM_001099433.2(JAKMIP1):c.2058C>T:p.Ala686=	coding	Benign
4	6054098	G	A	G6054098A	JAKMIP1	NM_001099433.2(JAKMIP1):c.1758C>T:p.Asp586=	coding	Benign
4	6054100	C	G	C6054100G	JAKMIP1	NM_001099433.2(JAKMIP1):c.1756G>C:p.Asp586His	coding	Pathogenic
4	6062408	G	A	G6062408A	JAKMIP1	NM_001099433.2(JAKMIP1):c.1464C>T:p.Phe488=	coding	Benign
4	6081618	G	A	G6081618A	JAKMIP1	NM_001099433.2(JAKMIP1):c.1092C>T:p.Asn364=	coding	Benign
4	6081672	C	G	C6081672G	JAKMIP1	NM_001099433.2(JAKMIP1):c.1038G>C:p.Leu346=	coding	Benign
4	6105689	C	T	C6105689T	JAKMIP1	NM_001099433.2(JAKMIP1):c.408G>A:p.Ala136=	coding	Benign
4	6269689	G	T	G6269689T	WFS1	NM_006005.3(WFS1):c.-331G>T	noncoding	Benign
4	6270025	C	T	C6270025T	WFS1	NM_006005.3(WFS1):c.-6+11C>T	noncoding	Benign/Likely_benign
4	6277464	C	T	C6277464T	WFS1	NM_006005.3(WFS1):c.9C>T:p.Ser3=	coding	Benign
4	6277476	G	T	G6277476T	WFS1	NM_006005.3(WFS1):c.21G>T:p.Pro7=	coding	Benign/Likely_benign
4	6277496	A	G	A6277496G	WFS1	NM_006005.3(WFS1):c.41A>G:p.Gln14Arg	coding	Benign/Likely_benign
4	6277551	G	A	G6277551A	WFS1	NM_006005.3(WFS1):c.96G>A:p.Ser32=	coding	Benign
4	6277579	C	T	C6277579T	WFS1	NM_006005.3(WFS1):c.124C>T:p.Arg42Ter	coding	Pathogenic/Likely_pathogenic
4	6277680	C	T	C6277680T	WFS1	NM_006005.3(WFS1):c.225C>T:p.Asp75=	coding	Benign
4	6277777	G	A	G6277777A	WFS1	NM_006005.3(WFS1):c.232+90G>A	noncoding	Benign
4	6287186	C	T	C6287186T	WFS1	NM_006005.3(WFS1):c.315+11C>T	noncoding	Benign/Likely_benign
4	6288752	C	G	C6288752G	WFS1	NM_006005.3(WFS1):c.316-235C>G	noncoding	Benign
4	6288823	A	G	A6288823G	WFS1	NM_006005.3(WFS1):c.316-164A>G	noncoding	Benign
4	6289001	C	A	C6289001A	WFS1	NM_006005.3(WFS1):c.330C>A:p.Tyr110Ter	coding	Pathogenic
4	6289013	C	T	C6289013T	WFS1	NM_006005.3(WFS1):c.342C>T:p.Ala114=	coding	Benign/Likely_benign
4	6289021	C	T	C6289021T	WFS1	NM_006005.3(WFS1):c.350C>T:p.Thr117Met	coding	Benign
4	6289034	C	T	C6289034T	WFS1	NM_006005.3(WFS1):c.363C>T:p.Leu121=	coding	Benign
4	6289047	G	A	G6289047A	WFS1	NM_006005.3(WFS1):c.376G>A:p.Ala126Thr	coding	Pathogenic
4	6289073	G	A	G6289073A	WFS1	NM_006005.3(WFS1):c.402G>A:p.Ala134=	coding	Benign/Likely_benign
4	6289132	G	A	G6289132A	WFS1	NM_006005.3(WFS1):c.460+1G>A	coding	Pathogenic
4	6290916	G	C	G6290916C	WFS1	NM_006005.3(WFS1):c.461-281G>C	noncoding	Benign
4	6290989	G	C	G6290989C	WFS1	NM_006005.3(WFS1):c.461-208G>C	noncoding	Benign
4	6291182	C	T	C6291182T	WFS1	NM_006005.3(WFS1):c.461-15C>T	noncoding	Benign
4	6291188	A	G	A6291188G	WFS1	NM_006005.3(WFS1):c.461-9A>G	noncoding	Benign
4	6291218	G	A	G6291218A	WFS1	NM_006005.3(WFS1):c.482G>A:p.Arg161Gln	coding	Benign/Likely_benign
4	6291246	C	G	C6291246G	WFS1	NM_006005.3(WFS1):c.510C>G:p.Thr170=	coding	Benign
4	6291313	A	C	A6291313C	WFS1	NM_006005.3(WFS1):c.577A>C:p.Lys193Gln	coding	Benign/Likely_benign
4	6291379	C	T	C6291379T	WFS1	NM_006005.3(WFS1):c.631+12C>T	noncoding	Benign
4	6291531	G	C	G6291531C	WFS1	NM_006005.3(WFS1):c.631+164G>C	noncoding	Benign
4	6291719	T	C	T6291719C	WFS1	NM_006005.3(WFS1):c.632-198T>C	noncoding	Benign
4	6291747	A	G	A6291747G	WFS1	NM_006005.3(WFS1):c.632-170A>G	noncoding	Benign
4	6291961	C	T	C6291961T	WFS1	NM_006005.3(WFS1):c.676C>T:p.Gln226Ter	coding	Pathogenic
4	6291969	C	G	C6291969G	WFS1	NM_006005.3(WFS1):c.684C>G:p.Arg228=	coding	Benign
4	6292013	G	A	G6292013A	WFS1	NM_006005.3(WFS1):c.712+16G>A	noncoding	Benign/Likely_benign
4	6292192	C	G	C6292192G	WFS1	NM_006005.3(WFS1):c.712+195C>G	noncoding	Benign
4	6292240	G	A	G6292240A	WFS1	NM_006005.3(WFS1):c.712+243G>A	noncoding	Benign
4	6292274	A	G	A6292274G	WFS1	NM_006005.3(WFS1):c.712+277A>G	noncoding	Benign
4	6293681	G	A	G6293681A	WFS1	NM_006005.3(WFS1):c.713-1360G>A	noncoding	Benign
4	6293700	C	G	C6293700G	WFS1	NM_006005.3(WFS1):c.713-1341C>G	noncoding	Benign
4	6293724	A	G	A6293724G	WFS1	NM_006005.3(WFS1):c.713-1317A>G	noncoding	Benign
4	6293822	C	T	C6293822T	WFS1	NM_006005.3(WFS1):c.713-1219C>T	noncoding	Benign
4	6293838	C	T	C6293838T	WFS1	NM_006005.3(WFS1):c.713-1203C>T	noncoding	Benign
4	6293856	C	A	C6293856A	WFS1	NM_006005.3(WFS1):c.713-1185C>A	noncoding	Benign
4	6293966	C	G	C6293966G	WFS1	NM_006005.3(WFS1):c.713-1075C>G	noncoding	Benign
4	6294017	A	T	A6294017T	WFS1	NM_006005.3(WFS1):c.713-1024A>T	noncoding	Benign
4	6294023	A	G	A6294023G	WFS1	NM_006005.3(WFS1):c.713-1018A>G	noncoding	Benign
4	6294048	C	T	C6294048T	WFS1	NM_006005.3(WFS1):c.713-993C>T	noncoding	Benign
4	6294096	A	G	A6294096G	WFS1	NM_006005.3(WFS1):c.713-945A>G	noncoding	Benign
4	6294126	C	T	C6294126T	WFS1	NM_006005.3(WFS1):c.713-915C>T	noncoding	Benign
4	6294258	G	A	G6294258A	WFS1	NM_006005.3(WFS1):c.713-783G>A	noncoding	Benign
4	6294720	G	T	G6294720T	WFS1	NM_006005.3(WFS1):c.713-321G>T	noncoding	Benign
4	6295145	G	T	G6295145T	WFS1	NM_006005.3(WFS1):c.817G>T:p.Glu273Ter	coding	Pathogenic
4	6295153	G	A	G6295153A	WFS1	NM_006005.3(WFS1):c.825G>A:p.Ala275=	coding	Benign/Likely_benign
4	6295182	G	A	G6295182A	WFS1	NM_006005.3(WFS1):c.854G>A:p.Arg285His	coding	Benign/Likely_benign
4	6295191	T	C	T6295191C	WFS1	NM_006005.3(WFS1):c.861+2T>C	noncoding	Pathogenic
4	6300472	C	T	C6300472T	WFS1	NM_006005.3(WFS1):c.862-185C>T	noncoding	Benign
4	6300493	C	G	C6300493G	WFS1	NM_006005.3(WFS1):c.862-164C>G	noncoding	Benign
4	6300668	C	G	C6300668G	WFS1	NM_006005.3(WFS1):c.873C>G:p.Tyr291Ter	coding	Pathogenic
4	6300712	T	C	T6300712C	WFS1	NM_006005.3(WFS1):c.917T>C:p.Met306Thr	coding	Benign
4	6300725	A	G	A6300725G	WFS1	NM_006005.3(WFS1):c.930A>G:p.Ala310=	coding	Benign
4	6300763	A	G	A6300763G	WFS1	NM_006005.3(WFS1):c.968A>G:p.His323Arg	coding	Pathogenic
4	6300792	G	A	G6300792A	WFS1	NM_006005.3(WFS1):c.997G>A:p.Val333Ile	coding	Benign
4	6300792	G	T	G6300792T	WFS1	NM_006005.3(WFS1):c.997G>T:p.Val333Phe	coding	Benign
4	6300818	C	T	C6300818T	WFS1	NM_006005.3(WFS1):c.1023C>T:p.Phe341=	coding	Benign
4	6300929	C	A	C6300929A	WFS1	NM_006005.3(WFS1):c.1134C>A:p.Thr378=	coding	Benign/Likely_benign
4	6300953	C	T	C6300953T	WFS1	NM_006005.3(WFS1):c.1158C>T:p.Pro386=	coding	Benign
4	6300968	G	A	G6300968A	WFS1	NM_006005.3(WFS1):c.1173G>A:p.Glu391=	coding	Benign
4	6300980	C	G	C6300980G	WFS1	NM_006005.3(WFS1):c.1185C>G:p.Val395=	coding	Benign
4	6300980	C	T	C6300980T	WFS1	NM_006005.3(WFS1):c.1185C>T:p.Val395=	coding	Benign
4	6301072	G	A	G6301072A	WFS1	NM_006005.3(WFS1):c.1277G>A:p.Cys426Tyr	coding	Benign/Likely_benign
4	6301089	C	T	C6301089T	WFS1	NM_006005.3(WFS1):c.1294C>T:p.Leu432=	coding	Benign/Likely_benign
4	6301103	C	T	C6301103T	WFS1	NM_006005.3(WFS1):c.1308C>T:p.Thr436=	coding	Benign
4	6301162	G	A	G6301162A	WFS1	NM_006005.3(WFS1):c.1367G>A:p.Arg456His	coding	Benign/Likely_benign
4	6301180	A	G	A6301180G	WFS1	NM_006005.3(WFS1):c.1385A>G:p.Glu462Gly	coding	Pathogenic
4	6301190	C	T	C6301190T	WFS1	NM_006005.3(WFS1):c.1395C>T:p.Ala465=	coding	Benign/Likely_benign
4	6301286	C	T	C6301286T	WFS1	NM_006005.3(WFS1):c.1491C>T:p.Val497=	coding	Benign/Likely_benign
4	6301290	C	T	C6301290T	WFS1	NM_006005.3(WFS1):c.1495C>T:p.Leu499Phe	coding	Benign/Likely_benign
4	6301295	C	T	C6301295T	WFS1	NM_006005.3(WFS1):c.1500C>T:p.Asn500=	coding	Benign
4	6301306	C	T	C6301306T	WFS1	NM_006005.3(WFS1):c.1511C>T:p.Pro504Leu	coding	Pathogenic
4	6301309	G	A	G6301309A	WFS1	NM_006005.3(WFS1):c.1514G>A:p.Cys505Tyr	coding	Pathogenic
4	6301325	C	T	C6301325T	WFS1	NM_006005.3(WFS1):c.1530C>T:p.Tyr510=	coding	Benign/Likely_benign
4	6301415	G	A	G6301415A	WFS1	NM_006005.3(WFS1):c.1620G>A:p.Trp540Ter	coding	Pathogenic
4	6301469	C	T	C6301469T	WFS1	NM_006005.3(WFS1):c.1674C>T:p.Arg558=	coding	Benign/Likely_benign
4	6301470	G	A	G6301470A	WFS1	NM_006005.3(WFS1):c.1675G>A:p.Ala559Thr	coding	Benign/Likely_benign
4	6301478	C	T	C6301478T	WFS1	NM_006005.3(WFS1):c.1683C>T:p.Ile561=	coding	Benign
4	6301520	C	T	C6301520T	WFS1	NM_006005.3(WFS1):c.1725C>T:p.Ala575=	coding	Benign
4	6301521	G	A	G6301521A	WFS1	NM_006005.3(WFS1):c.1726G>A:p.Gly576Ser	coding	Benign/Likely_benign
4	6301592	C	A	C6301592A	WFS1	NM_006005.3(WFS1):c.1797C>A:p.Val599=	coding	Benign
4	6301595	C	T	C6301595T	WFS1	NM_006005.3(WFS1):c.1800C>T:p.Thr600=	coding	Benign
4	6301600	C	T	C6301600T	WFS1	NM_006005.3(WFS1):c.1805C>T:p.Ala602Val	coding	Benign/Likely_benign
4	6301627	G	A	G6301627A	WFS1	NM_006005.3(WFS1):c.1832G>A:p.Arg611His	coding	Benign
4	6301634	G	A	G6301634A	WFS1	NM_006005.3(WFS1):c.1839G>A:p.Trp613Ter	coding	Pathogenic
4	6301696	A	C	A6301696C	WFS1	NM_006005.3(WFS1):c.1901A>C:p.Lys634Thr	coding	Pathogenic
4	6301718	G	A	G6301718A	WFS1	NM_006005.3(WFS1):c.1923G>A:p.Thr641=	coding	Benign/Likely_benign
4	6301739	G	A	G6301739A	WFS1	NM_006005.3(WFS1):c.1944G>A:p.Trp648Ter	coding	Pathogenic
4	6301794	C	T	C6301794T	WFS1	NM_006005.3(WFS1):c.1999C>T:p.Gln667Ter	coding	Pathogenic
4	6301802	T	G	T6301802G	WFS1	NM_006005.3(WFS1):c.2007T>G:p.Tyr669Ter	coding	Pathogenic
4	6301807	C	T	C6301807T	WFS1	NM_006005.3(WFS1):c.2012C>T:p.Ala671Val	coding	Benign/Likely_benign
4	6301814	C	T	C6301814T	WFS1	NM_006005.3(WFS1):c.2019C>T:p.Cys673=	coding	Benign
4	6301835	G	A	G6301835A	WFS1	NM_006005.3(WFS1):c.2040G>A:p.Glu680=	coding	Benign/Likely_benign
4	6301846	C	T	C6301846T	WFS1	NM_006005.3(WFS1):c.2051C>T:p.Ala684Val	coding	Pathogenic
4	6301849	G	C	G6301849C	WFS1	NM_006005.3(WFS1):c.2054G>C:p.Arg685Pro	coding	Pathogenic
4	6301879	G	T	G6301879T	WFS1	NM_006005.3(WFS1):c.2084G>T:p.Gly695Val	coding	Pathogenic
4	6301880	C	T	C6301880T	WFS1	NM_006005.3(WFS1):c.2085C>T:p.Gly695=	coding	Benign/Likely_benign
4	6301914	G	T	G6301914T	WFS1	NM_006005.3(WFS1):c.2119G>T:p.Val707Phe	coding	Pathogenic
4	6301936	A	C	A6301936C	WFS1	NM_006005.3(WFS1):c.2141A>C:p.Asn714Thr	coding	Pathogenic
4	6301941	G	A	G6301941A	WFS1	NM_006005.3(WFS1):c.2146G>A:p.Ala716Thr	coding	Pathogenic/Likely_pathogenic
4	6301953	A	G	A6301953G	WFS1	NM_006005.3(WFS1):c.2158A>G:p.Ile720Val	coding	Benign/Likely_benign
4	6301965	C	T	C6301965T	WFS1	NM_006005.3(WFS1):c.2170C>T:p.Pro724Ser	coding	Pathogenic
4	6301979	C	T	C6301979T	WFS1	NM_006005.3(WFS1):c.2184C>T:p.Gly728=	coding	Benign
4	6301997	C	T	C6301997T	WFS1	NM_006005.3(WFS1):c.2202C>T:p.Leu734=	coding	Benign/Likely_benign
4	6302000	C	T	C6302000T	WFS1	NM_006005.3(WFS1):c.2205C>T:p.Tyr735=	coding	Benign/Likely_benign
4	6302042	G	A	G6302042A	WFS1	NM_006005.3(WFS1):c.2247G>A:p.Thr749=	coding	Benign
4	6302049	G	T	G6302049T	WFS1	NM_006005.3(WFS1):c.2254G>T:p.Glu752Ter	coding	Pathogenic
4	6302117	G	A	G6302117A	WFS1	NM_006005.3(WFS1):c.2322G>A:p.Lys774=	coding	Benign
4	6302130	G	A	G6302130A	WFS1	NM_006005.3(WFS1):c.2335G>A:p.Val779Met	coding	Benign/Likely_benign
4	6302133	G	A	G6302133A	WFS1	NM_006005.3(WFS1):c.2338G>A:p.Gly780Ser	coding	Pathogenic
4	6302151	G	A	G6302151A	WFS1	NM_006005.3(WFS1):c.2356G>A:p.Gly786Ser	coding	Benign/Likely_benign
4	6302164	C	A	C6302164A	WFS1	NM_006005.3(WFS1):c.2369C>A:p.Ser790Ter	coding	Pathogenic
4	6302165	G	A	G6302165A	WFS1	NM_006005.3(WFS1):c.2370G>A:p.Ser790=	coding	Benign/Likely_benign
4	6302184	G	A	G6302184A	WFS1	NM_006005.3(WFS1):c.2389G>A:p.Asp797Asn	coding	Pathogenic
4	6302220	G	A	G6302220A	WFS1	NM_006005.3(WFS1):c.2425G>A:p.Glu809Lys	coding	Pathogenic/Likely_pathogenic
4	6302228	G	A	G6302228A	WFS1	NM_006005.3(WFS1):c.2433G>A:p.Lys811=	coding	Benign
4	6302250	C	T	C6302250T	WFS1	NM_006005.3(WFS1):c.2455C>T:p.Gln819Ter	coding	Pathogenic
4	6302264	C	T	C6302264T	WFS1	NM_006005.3(WFS1):c.2469C>T:p.Ile823=	coding	Benign/Likely_benign
4	6302358	T	C	T6302358C	WFS1	NM_006005.3(WFS1):c.2563T>C:p.Ser855Pro	coding	Benign/Likely_benign
4	6302360	A	G	A6302360G	WFS1	NM_006005.3(WFS1):c.2565A>G:p.Ser855=	coding	Benign
4	6302385	G	A	G6302385A	WFS1	NM_006005.3(WFS1):c.2590G>A:p.Glu864Lys	coding	Pathogenic/Likely_pathogenic
4	6302391	G	A	G6302391A	WFS1	NM_006005.3(WFS1):c.2596G>A:p.Asp866Asn	coding	Benign/Likely_benign
4	6302406	G	A	G6302406A	WFS1	NM_006005.3(WFS1):c.2611G>A:p.Val871Met	coding	Benign/Likely_benign
4	6302417	C	T	C6302417T	WFS1	NM_006005.3(WFS1):c.2622C>T:p.Ala874=	coding	Benign/Likely_benign
4	6302515	T	C	T6302515C	WFS1	NM_006005.3(WFS1):c.*47T>C	noncoding	Benign
4	6302522	A	G	A6302522G	WFS1	NM_006005.3(WFS1):c.*54A>G	noncoding	Benign
4	6302537	C	T	C6302537T	WFS1	NM_006005.3(WFS1):c.*69C>T	noncoding	Benign
4	6302558	G	A	G6302558A	WFS1	NM_006005.3(WFS1):c.*90G>A	noncoding	Benign
4	6302559	C	T	C6302559T	WFS1	NM_006005.3(WFS1):c.*91C>T	noncoding	Benign
4	6302599	C	T	C6302599T	WFS1	NM_006005.3(WFS1):c.*131C>T	noncoding	Benign
4	6302617	G	A	G6302617A	WFS1	NM_006005.3(WFS1):c.*149G>A	noncoding	Benign
4	6302709	T	C	T6302709C	WFS1	NM_006005.3(WFS1):c.*241T>C	noncoding	Benign
4	6302710	G	C	G6302710C	WFS1	NM_006005.3(WFS1):c.*242G>C	noncoding	Benign
4	6302721	G	A	G6302721A	WFS1	NM_006005.3(WFS1):c.*253G>A	noncoding	Benign
4	6302742	A	G	A6302742G	WFS1	NM_006005.3(WFS1):c.*274A>G	noncoding	Benign
4	6302801	C	A	C6302801A	WFS1	NM_006005.3(WFS1):c.*333C>A	noncoding	Benign
4	6302826	T	C	T6302826C	WFS1	NM_006005.3(WFS1):c.*358T>C	noncoding	Benign
4	6302980	C	T	C6302980T	WFS1	NM_006005.3(WFS1):c.*512C>T	noncoding	Benign
4	6303035	C	G	C6303035G	WFS1	NM_006005.3(WFS1):c.*567C>G	noncoding	Benign
4	6303072	G	C	G6303072C	WFS1	NM_006005.3(WFS1):c.*604G>C	noncoding	Benign
4	6303105	T	C	T6303105C	WFS1	NM_006005.3(WFS1):c.*637T>C	noncoding	Benign
4	6303151	C	T	C6303151T	WFS1	NM_006005.3(WFS1):c.*683C>T	noncoding	Benign
4	6347836	C	T	C6347836T	PPP2R2C	NM_020416.4(PPP2R2C):c.790+10G>A	noncoding	Benign
4	6372536	G	A	G6372536A	PPP2R2C	NM_020416.4(PPP2R2C):c.612C>T:p.Thr204=	coding	Benign
4	6694007	G	A	G6694007A	S100P	NM_005980.3(S100P):c.75G>A:p.Thr25=	coding	Benign
4	6862963	T	C	T6862963C	KIAA0232	NM_014743.3(KIAA0232):c.2581T>C:p.Cys861Arg	coding	Benign
4	6863331	T	C	T6863331C	KIAA0232	NM_014743.3(KIAA0232):c.2949T>C:p.Ala983=	coding	Benign
4	6863842	T	C	T6863842C	KIAA0232	NM_014743.3(KIAA0232):c.3460T>C:p.Leu1154=	coding	Benign
4	6880853	C	T	C6880853T	KIAA0232	NM_014743.3(KIAA0232):c.4075C>T:p.Arg1359Cys	coding	Benign
4	6923486	G	A	G6923486A	TBC1D14	NM_020773.3(TBC1D14):c.97G>A:p.Val33Ile	coding	Benign
4	6923644	C	T	C6923644T	TBC1D14	NM_020773.3(TBC1D14):c.255C>T:p.His85=	coding	Benign
4	7531581	C	G	C7531581G	SORCS2	NM_020777.3(SORCS2):c.600C>G:p.Val200=	coding	Benign
4	7638471	C	T	C7638471T	SORCS2	NM_020777.3(SORCS2):c.792C>T:p.Leu264=	coding	Benign
4	7664414	C	T	C7664414T	SORCS2	NM_020777.3(SORCS2):c.1014C>T:p.Phe338=	coding	Benign
4	7689521	A	C	A7689521C	SORCS2	NM_020777.3(SORCS2):c.1524A>C:p.Ala508=	coding	Benign
4	7703318	C	T	C7703318T	SORCS2	NM_020777.3(SORCS2):c.1707C>T:p.His569=	coding	Benign
4	7704267	C	T	C7704267T	SORCS2	NM_020777.3(SORCS2):c.1851C>T:p.Asp617=	coding	Benign
4	7714231	C	T	C7714231T	SORCS2	NM_020777.3(SORCS2):c.1990-9C>T	noncoding	Benign
4	7714341	C	T	C7714341T	SORCS2	NM_020777.3(SORCS2):c.2091C>T:p.Arg697=	coding	Benign
4	7715293	C	T	C7715293T	SORCS2	NM_020777.3(SORCS2):c.2234C>T:p.Thr745Ile	coding	Benign
4	7726869	G	A	G7726869A	SORCS2	NM_020777.3(SORCS2):c.2835G>A:p.Ser945=	coding	Benign
4	7733346	C	T	C7733346T	SORCS2	NM_020777.3(SORCS2):c.3133C>T:p.Leu1045=	coding	Benign
4	7772958	C	T	C7772958T	AFAP1	NM_001134647.1(AFAP1):c.2115G>A:p.Glu705=	coding	Benign
4	7838605	G	A	G7838605A	AFAP1	NM_001134647.1(AFAP1):c.645C>T:p.His215=	coding	Benign
4	8217135	G	A	G8217135A	SH3TC1	NM_018986.5(SH3TC1):c.807G>A:p.Ala269=	coding	Benign
4	8227593	G	A	G8227593A	SH3TC1	NM_018986.5(SH3TC1):c.1899G>A:p.Gly633=	coding	Benign
4	8371000	G	A	G8371000A	ACOX3	NM_003501.3(ACOX3):c.1897-6C>T	noncoding	Benign
4	8373615	G	A	G8373615A	ACOX3	NM_003501.3(ACOX3):c.1842C>T:p.Ser614=	coding	Benign
4	8375108	C	G	C8375108G	ACOX3	NM_003501.3(ACOX3):c.1698G>C:p.Thr566=	coding	Benign
4	8381488	T	G	T8381488G	ACOX3	NM_003501.3(ACOX3):c.1653+4A>C	noncoding	Benign
4	8389221	C	T	C8389221T	ACOX3	NM_003501.3(ACOX3):c.1489G>A:p.Asp497Asn	coding	Benign
4	8392367	G	A	G8392367A	ACOX3	NM_003501.3(ACOX3):c.1266C>T:p.Cys422=	coding	Benign
4	8399533	C	T	C8399533T	ACOX3	NM_003501.3(ACOX3):c.873+23G>A	noncoding	Benign
4	8414859	T	G	T8414859G	ACOX3	NM_003501.3(ACOX3):c.448A>C:p.Met150Leu	coding	Benign
4	8416371	G	A	G8416371A	ACOX3	NM_003501.3(ACOX3):c.144+7C>T	noncoding	Benign
4	8416421	T	G	T8416421G	ACOX3	NM_003501.3(ACOX3):c.101A>C:p.Glu34Ala	coding	Benign
4	8416438	C	T	C8416438T	ACOX3	NM_003501.3(ACOX3):c.84G>A:p.Ala28=	coding	Benign
4	8580988	C	T	C8580988T	GPR78	NM_080819.5(GPR78):c.6C>T:p.Gly2=	coding	Benign
4	8581306	G	A	G8581306A	GPR78	NM_080819.5(GPR78):c.324G>A:p.Val108=	coding	Benign
4	8581510	C	T	C8581510T	GPR78	NM_080819.5(GPR78):c.528C>T:p.Leu176=	coding	Benign
4	8604154	C	G	C8604154G	CPZ	NM_001014447.3(CPZ):c.675C>G:p.Ile225Met	coding	Benign
4	8606029	C	T	C8606029T	CPZ	NM_001014447.3(CPZ):c.750C>T:p.Asn250=	coding	Benign
4	8606067	A	G	A8606067G	CPZ	NM_001014447.3(CPZ):c.788A>G:p.Gln263Arg	coding	Benign
4	8618491	G	T	G8618491T	CPZ	NM_001014447.3(CPZ):c.1566G>T:p.Arg522=	coding	Benign
4	8619254	G	T	G8619254T	CPZ	NM_001014447.3(CPZ):c.1604-8G>T	noncoding	Benign
4	8619512	G	A	G8619512A	CPZ	NM_001014447.3(CPZ):c.1854G>A:p.Pro618=	coding	Benign
4	8867861	T	C	T8867861C	HMX1	NM_018942.3(HMX1):c.879A>G:p.Ala293=	coding	Benign
4	8868090	T	G	T8868090G	HMX1	NM_018942.3(HMX1):c.650A>C:p.Gln217Pro	coding	Pathogenic
4	8871251	C	T	C8871251T	HMX1	NM_018942.3(HMX1):c.364G>A:p.Gly122Ser	coding	Benign
4	9782291	C	T	C9782291T	DRD5	NM_000798.5(DRD5):c.262C>T:p.Leu88Phe	coding	Benign
4	9826287	C	A	C9826287A	SLC2A9	NM_020041.3(SLC2A9):c.*110G>T	noncoding	Benign
4	9826421	A	G	A9826421G	SLC2A9	NM_020041.3(SLC2A9):c.1599T>C:p.Asp533=	coding	Benign
4	9826475	G	A	G9826475A	SLC2A9	NM_020041.3(SLC2A9):c.1545C>T:p.Ser515=	coding	Benign
4	9826554	A	G	A9826554G	SLC2A9	NM_020041.3(SLC2A9):c.1466T>C:p.Ile489Thr	coding	Benign
4	9834932	G	A	G9834932A	SLC2A9	NM_020041.3(SLC2A9):c.1368C>T:p.Thr456=	coding	Benign
4	9834998	C	T	C9834998T	SLC2A9	NM_020041.3(SLC2A9):c.1302G>A:p.Pro434=	coding	Benign
4	9835001	G	A	G9835001A	SLC2A9	NM_020041.3(SLC2A9):c.1299C>T:p.Ile433=	coding	Benign
4	9835014	G	A	G9835014A	SLC2A9	NM_020041.3(SLC2A9):c.1292-6C>T	noncoding	Benign
4	9887623	G	C	G9887623C	SLC2A9	NM_020041.3(SLC2A9):c.1235C>G:p.Pro412Arg	coding	Pathogenic
4	9887637	G	A	G9887637A	SLC2A9	NM_020041.3(SLC2A9):c.1221C>T:p.His407=	coding	Benign
4	9890622	C	T	C9890622T	SLC2A9	NM_020041.3(SLC2A9):c.1203G>A:p.Thr401=	coding	Benign
4	9908226	T	G	T9908226G	SLC2A9	NM_020041.3(SLC2A9):c.1113+9A>C	noncoding	Benign
4	9908299	G	A	G9908299A	SLC2A9	NM_020041.3(SLC2A9):c.1049C>T:p.Pro350Leu	coding	Benign
4	9908302	G	A	G9908302A	SLC2A9	NM_020041.3(SLC2A9):c.1046C>T:p.Pro349Leu	coding	Benign
4	9920430	G	A	G9920430A	SLC2A9	NM_020041.3(SLC2A9):c.957C>T:p.Thr319=	coding	Benign
4	9920478	G	A	G9920478A	SLC2A9	NM_020041.3(SLC2A9):c.909C>T:p.Ser303=	coding	Benign
4	9920488	C	T	C9920488T	SLC2A9	NM_020041.3(SLC2A9):c.899G>A:p.Arg300His	coding	Benign/Likely_benign
4	9920504	C	T	C9920504T	SLC2A9	NM_020041.3(SLC2A9):c.883G>A:p.Val295Met	coding	Benign
4	9920506	C	T	C9920506T	SLC2A9	NM_020041.3(SLC2A9):c.881G>A:p.Arg294His	coding	Benign
4	9920543	C	T	C9920543T	SLC2A9	NM_020041.3(SLC2A9):c.844G>A:p.Val282Ile	coding	Benign
4	9920544	G	A	G9920544A	SLC2A9	NM_020041.3(SLC2A9):c.843C>T:p.Asp281=	coding	Benign
4	9920546	C	G	C9920546G	SLC2A9	NM_020041.3(SLC2A9):c.841G>C:p.Asp281His	coding	Benign
4	9920563	G	A	G9920563A	SLC2A9	NM_020041.3(SLC2A9):c.824C>T:p.Thr275Met	coding	Benign
4	9941918	A	G	A9941918G	SLC2A9	NM_020041.3(SLC2A9):c.809T>C:p.Val270Ala	coding	Benign
4	9942000	C	T	C9942000T	SLC2A9	NM_020041.3(SLC2A9):c.727G>A:p.Val243Ile	coding	Benign
4	9980579	G	A	G9980579A	SLC2A9	NM_020041.3(SLC2A9):c.681+13C>T	noncoding	Benign
4	9980607	G	A	G9980607A	SLC2A9	NM_020041.3(SLC2A9):c.666C>T:p.Pro222=	coding	Benign
4	9980706	A	G	A9980706G	SLC2A9	NM_020041.3(SLC2A9):c.567T>C:p.Leu189=	coding	Benign
4	9985700	G	A	G9985700A	SLC2A9	NM_020041.3(SLC2A9):c.504C>T:p.Ile168=	coding	Benign
4	9996816	C	T	C9996816T	SLC2A9	NM_020041.3(SLC2A9):c.375G>A:p.Thr125=	coding	Benign
4	9996817	G	A	G9996817A	SLC2A9	NM_020041.3(SLC2A9):c.374C>T:p.Thr125Met	coding	Pathogenic
4	9996840	G	A	G9996840A	SLC2A9	NM_020041.3(SLC2A9):c.351C>T:p.Phe117=	coding	Benign
4	9996869	A	G	A9996869G	SLC2A9	NM_020041.3(SLC2A9):c.322T>C:p.Leu108=	coding	Benign
4	9996950	A	G	A9996950G	SLC2A9	NM_020041.3(SLC2A9):c.250-9T>C	noncoding	Benign
4	10018964	C	A	C10018964A	SLC2A9	NM_020041.3(SLC2A9):c.249+11G>T	noncoding	Benign
4	10019000	A	C	A10019000C	SLC2A9	NM_020041.3(SLC2A9):c.224T>G:p.Leu75Arg	coding	Pathogenic
4	10019026	G	C	G10019026C	SLC2A9	NM_020041.3(SLC2A9):c.198C>G:p.Gly66=	coding	Benign
4	10021271	C	T	C10021271T	SLC2A9	NM_020041.3(SLC2A9):c.150+9G>A	noncoding	Benign
4	10021307	A	G	A10021307G	SLC2A9	NM_020041.3(SLC2A9):c.123T>C:p.Ser41=	coding	Benign
4	10021357	C	T	C10021357T	SLC2A9	NM_020041.3(SLC2A9):c.73G>A:p.Gly25Arg	coding	Benign
4	10021358	G	A	G10021358A	SLC2A9	NM_020041.3(SLC2A9):c.72C>T:p.Ala24=	coding	Benign/Likely_benign
4	10021437	A	C	A10021437C	SLC2A9	NM_020041.3(SLC2A9):c.-8T>G	coding	Benign
4	10072573	G	A	G10072573A	-	NM_005112.2:c.4198C>T	noncoding	Pathogenic
4	10075484	T	A	T10075484A	WDR1	NM_017491.5(WDR1):c.1715A>T:p.Asp572Val	coding	Pathogenic
4	10077754	G	A	G10077754A	WDR1	NM_017491.5(WDR1):c.1568C>T:p.Ser523Leu	coding	Benign
4	10081371	C	T	C10081371T	WDR1	NM_017491.5(WDR1):c.1270G>A:p.Val424Met	coding	Pathogenic
4	10087781	G	A	G10087781A	WDR1	NM_017491.5(WDR1):c.877C>T:p.Leu293Phe	coding	Pathogenic
4	10087802	G	C	G10087802C	WDR1	NM_017491.5(WDR1):c.856C>G:p.Leu286Val	coding	Pathogenic
4	10097834	G	C	G10097834C	WDR1	NM_017491.5(WDR1):c.435C>G:p.His145Gln	coding	Pathogenic
4	10097877	A	C	A10097877C	WDR1	NM_017491.5(WDR1):c.392T>G:p.Phe131Cys	coding	Pathogenic
4	10099008	C	T	C10099008T	WDR1	NM_017491.5(WDR1):c.361G>A:p.Gly121Arg	coding	Pathogenic
4	10103943	A	G	A10103943G	WDR1	NM_017491.5(WDR1):c.182T>C:p.Val61Ala	coding	Benign
4	10116175	C	T	C10116175T	WDR1	NM_017491.5(WDR1):c.76G>A:p.Asp26Asn	coding	Pathogenic
4	10116242	G	C	G10116242C	WDR1	NM_017491.5(WDR1):c.17-8C>G	noncoding	Benign
4	10501313	T	G	T10501313G	CLNK	NM_052964.4(CLNK):c.1083A>C:p.Ile361=	coding	Benign
4	10584947	G	A	G10584947A	CLNK	NM_052964.4(CLNK):c.92C>T:p.Pro31Leu	coding	Benign
4	13369888	A	C	A13369888C	RAB28	NM_001017979.3(RAB28):c.574-1238T>G	coding	Pathogenic
4	13369960	A	G	A13369960G	RAB28	NM_001017979.3(RAB28):c.574-1310T>C	coding	Benign
4	13376553	G	A	G13376553A	RAB28	NM_001017979.3(RAB28):c.565C>T:p.Gln189Ter	coding	Pathogenic
4	13381577	G	A	G13381577A	RAB28	NM_001017979.3(RAB28):c.409C>T:p.Arg137Ter	coding	Pathogenic
4	13479429	C	G	C13479429G	RAB28	NM_001017979.3(RAB28):c.172+1G>C	noncoding	Pathogenic
4	13542053	C	G	C13542053G	NKX3-2	NM_001189.4(NKX3-2):c.942G>C:p.Pro314=	coding	Benign
4	13542502	C	G	C13542502G	NKX3-2	NM_001189.4(NKX3-2):c.493G>C:p.Asp165His	coding	Benign
4	13543986	C	T	C13543986T	NKX3-2	NM_001189.4(NKX3-2):c.429G>A:p.Ala143=	coding	Benign
4	13544064	G	C	G13544064C	NKX3-2	NM_001189.4(NKX3-2):c.351C>G:p.Gly117=	coding	Benign
4	13544092	G	C	G13544092C	NKX3-2	NM_001189.4(NKX3-2):c.323C>G:p.Ala108Gly	coding	Benign/Likely_benign
4	13544168	G	T	G13544168T	NKX3-2	NM_001189.4(NKX3-2):c.247C>A:p.Arg83=	coding	Benign
4	13544180	T	A	T13544180A	NKX3-2	NM_001189.4(NKX3-2):c.235A>T:p.Thr79Ser	coding	Benign
4	13544225	C	G	C13544225G	NKX3-2	NM_001189.4(NKX3-2):c.190G>C:p.Gly64Arg	coding	Benign
4	13544289	C	A	C13544289A	NKX3-2	NM_001189.4(NKX3-2):c.126G>T:p.Ser42=	coding	Benign
4	13544307	G	A	G13544307A	NKX3-2	NM_001189.4(NKX3-2):c.108C>T:p.Pro36=	coding	Benign
4	13544424	G	T	G13544424T	NKX3-2	NM_001189.4(NKX3-2):c.-10C>A	noncoding	Benign
4	15476188	C	G	C15476188G	CC2D2A	NM_020785.2(CC2D2A):c.39+217C>G	noncoding	Benign
4	15478449	T	C	T15478449C	CC2D2A	NM_020785.2(CC2D2A):c.40-274T>C	noncoding	Benign
4	15478783	C	T	C15478783T	CC2D2A	NM_020785.2(CC2D2A):c.100C>T:p.Arg34Ter	coding	Pathogenic/Likely_pathogenic
4	15480698	C	T	C15480698T	CC2D2A	NM_020785.2(CC2D2A):c.230-6C>T	noncoding	Benign
4	15480736	C	T	C15480736T	CC2D2A	NM_020785.2(CC2D2A):c.262C>T:p.Arg88Ter	coding	Benign
4	15480853	A	G	A15480853G	CC2D2A	NM_020785.2(CC2D2A):c.353+26A>G	noncoding	Benign
4	15502879	C	T	C15502879T	CC2D2A	NM_001080522.2(CC2D2A):c.394C>T:p.Arg132Ter	coding	Pathogenic/Likely_pathogenic
4	15510217	C	T	C15510217T	CC2D2A	NM_001080522.2(CC2D2A):c.517C>T:p.Arg173Ter	coding	Pathogenic
4	15511222	G	T	G15511222T	CC2D2A	NM_001080522.2(CC2D2A):c.541-25G>T	noncoding	Benign
4	15511227	T	G	T15511227G	CC2D2A	NM_001080522.2(CC2D2A):c.541-20T>G	noncoding	Benign/Likely_benign
4	15511246	G	A	G15511246A	CC2D2A	NM_001080522.2(CC2D2A):c.541-1G>A	noncoding	Pathogenic
4	15511524	C	T	C15511524T	CC2D2A	NM_001080522.2(CC2D2A):c.717+101C>T	noncoding	Benign
4	15514710	G	A	G15514710A	CC2D2A	NM_001080522.2(CC2D2A):c.721G>A:p.Glu241Lys	coding	Benign/Likely_benign
4	15514766	C	T	C15514766T	CC2D2A	NM_001080522.2(CC2D2A):c.777C>T:p.His259=	coding	Benign
4	15516005	G	A	G15516005A	CC2D2A	NM_001080522.2(CC2D2A):c.1017+1G>A	coding	Pathogenic
4	15516734	A	C	A15516734C	CC2D2A	NM_001080522.2(CC2D2A):c.1127A>C:p.Glu376Ala	coding	Benign
4	15516757	G	A	G15516757A	CC2D2A	NM_001080522.2(CC2D2A):c.1149+1G>A	coding	Pathogenic
4	15527564	C	T	C15527564T	CC2D2A	NM_001080522.2(CC2D2A):c.1267C>T:p.Arg423Ter	coding	Pathogenic
4	15528501	C	A	C15528501A	CC2D2A	NM_001080522.2(CC2D2A):c.1360-119C>A	noncoding	Benign
4	15528630	T	A	T15528630A	CC2D2A	NM_001080522.2(CC2D2A):c.1370T>A:p.Leu457Ter	coding	Pathogenic
4	15533023	C	T	C15533023T	CC2D2A	NM_001080522.2(CC2D2A):c.1467-170C>T	noncoding	Benign
4	15533194	C	T	C15533194T	CC2D2A	NM_001080522.2(CC2D2A):c.1468C>T:p.Gln490Ter	coding	Pathogenic
4	15533284	C	T	C15533284T	CC2D2A	NM_001080522.2(CC2D2A):c.1558C>T:p.Arg520Ter	coding	Pathogenic
4	15536988	T	C	T15536988C	CC2D2A	NM_001080522.2(CC2D2A):c.1676T>C:p.Leu559Pro	coding	Pathogenic
4	15537008	G	T	G15537008T	CC2D2A	NM_001080522.2(CC2D2A):c.1696G>T:p.Glu566Ter	coding	Pathogenic
4	15537063	G	A	G15537063A	CC2D2A	NM_001378615.1(CC2D2A):c.1751G>A:p.Trp584Ter	coding	Pathogenic
4	15537074	C	T	C15537074T	CC2D2A	NM_001080522.2(CC2D2A):c.1762C>T:p.Gln588Ter	coding	Pathogenic
4	15537121	T	G	T15537121G	CC2D2A	NM_001080522.2(CC2D2A):c.1764+45T>G	noncoding	Benign
4	15537875	A	G	A15537875G	CC2D2A	NM_001080522.2(CC2D2A):c.1765-24A>G	noncoding	Benign
4	15538156	C	T	C15538156T	CC2D2A	NM_001080522.2(CC2D2A):c.2003+19C>T	noncoding	Benign
4	15540574	A	G	A15540574G	CC2D2A	NM_001080522.2(CC2D2A):c.2004-263A>G	noncoding	Benign
4	15540994	C	T	C15540994T	CC2D2A	NM_001080522.2(CC2D2A):c.2161C>T:p.Pro721Ser	coding	Benign/Likely_benign
4	15541021	A	C	A15541021C	CC2D2A	NM_001080522.2(CC2D2A):c.2181+7A>C	noncoding	Benign/Likely_benign
4	15550575	T	C	T15550575C	CC2D2A	NM_001080522.2(CC2D2A):c.2182-249T>C	noncoding	Benign
4	15550800	C	T	C15550800T	CC2D2A	NM_001080522.2(CC2D2A):c.2182-24C>T	noncoding	Benign
4	15553294	C	T	C15553294T	CC2D2A	NM_001080522.2(CC2D2A):c.2475C>T:p.Ile825=	coding	Benign/Likely_benign
4	15554780	A	G	A15554780G	CC2D2A	NM_001080522.2(CC2D2A):c.2487-292A>G	noncoding	Benign
4	15555146	G	A	G15555146A	CC2D2A	NM_001080522.2(CC2D2A):c.2561G>A:p.Trp854Ter	coding	Pathogenic
4	15555209	C	A	C15555209A	CC2D2A	NM_001080522.2(CC2D2A):c.2624C>A:p.Ser875Ter	coding	Pathogenic
4	15555211	G	A	G15555211A	CC2D2A	NM_001080522.2(CC2D2A):c.2625+1G>A	coding	Pathogenic
4	15557349	G	A	G15557349A	CC2D2A	NM_001080522.2(CC2D2A):c.2671G>A:p.Glu891Lys	coding	Pathogenic
4	15557361	C	T	C15557361T	CC2D2A	NM_001080522.2(CC2D2A):c.2683C>T:p.Gln895Ter	coding	Pathogenic
4	15557406	C	T	C15557406T	CC2D2A	NM_001378615.1(CC2D2A):c.2728C>T:p.Arg910Ter	coding	Pathogenic
4	15557452	G	C	G15557452C	CC2D2A	NM_001378615.1(CC2D2A):c.2774G>C:p.Arg925Pro	coding	Pathogenic
4	15559127	G	T	G15559127T	CC2D2A	NM_001080522.2(CC2D2A):c.2830-38G>T	noncoding	Benign
4	15559183	C	T	C15559183T	CC2D2A	NM_001080522.2(CC2D2A):c.2848C>T:p.Arg950Ter	coding	Pathogenic
4	15559217	T	C	T15559217C	CC2D2A	NM_001378615.1(CC2D2A):c.2882T>C:p.Ile961Thr	coding	Benign/Likely_benign
4	15559469	C	A	C15559469A	CC2D2A	NM_001080522.2(CC2D2A):c.2922+212C>A	noncoding	Benign
4	15560390	C	T	C15560390T	CC2D2A	NM_001080522.2(CC2D2A):c.2923-141C>T	noncoding	Benign
4	15563395	C	T	C15563395T	CC2D2A	NM_001080522.2(CC2D2A):c.3055C>T:p.Arg1019Ter	coding	Pathogenic/Likely_pathogenic
4	15563474	T	C	T15563474C	CC2D2A	NM_001080522.2(CC2D2A):c.3134T>C:p.Val1045Ala	coding	Pathogenic
4	15563485	C	T	C15563485T	CC2D2A	NM_001080522.2(CC2D2A):c.3145C>T:p.Arg1049Ter	coding	Pathogenic/Likely_pathogenic
4	15567369	T	C	T15567369C	CC2D2A	NM_001080522.2(CC2D2A):c.3183-8T>C	noncoding	Benign
4	15567395	G	A	G15567395A	CC2D2A	NM_001080522.2(CC2D2A):c.3201G>A:p.Ser1067=	coding	Benign
4	15567523	A	C	A15567523C	CC2D2A	NM_001080522.2(CC2D2A):c.3288+41A>C	noncoding	Benign
4	15567681	T	G	T15567681G	CC2D2A	NM_001378615.1(CC2D2A):c.3293T>G:p.Leu1098Ter	coding	Pathogenic
4	15567713	C	T	C15567713T	CC2D2A	NM_001378615.1(CC2D2A):c.3325C>T:p.Arg1109Ter	coding	Pathogenic
4	15569346	T	C	T15569346C	CC2D2A	NM_001080522.2(CC2D2A):c.3452T>C:p.Val1151Ala	coding	Pathogenic
4	15570411	G	A	G15570411A	CC2D2A	NM_001080522.2(CC2D2A):c.3509G>A:p.Arg1170Lys	coding	Benign/Likely_benign
4	15570447	G	A	G15570447A	CC2D2A	NM_001080522.2(CC2D2A):c.3545G>A:p.Trp1182Ter	coding	Pathogenic
4	15574128	C	T	C15574128T	CC2D2A	NM_001080522.2(CC2D2A):c.3595-22C>T	noncoding	Benign
4	15574207	C	T	C15574207T	CC2D2A	NM_001080522.2(CC2D2A):c.3652C>T:p.Arg1218Ter	coding	Pathogenic
4	15579967	G	T	G15579967T	CC2D2A	NM_001080522.2(CC2D2A):c.3772-1G>T	noncoding	Pathogenic
4	15580046	C	T	C15580046T	CC2D2A	NM_001080522.2(CC2D2A):c.3850C>T:p.Arg1284Cys	coding	Pathogenic/Likely_pathogenic
4	15586169	C	T	C15586169T	CC2D2A	NM_001080522.2(CC2D2A):c.3988C>T:p.Arg1330Ter	coding	Pathogenic
4	15586248	T	C	T15586248C	CC2D2A	NM_001080522.2(CC2D2A):c.4065+2T>C	noncoding	Pathogenic
4	15586274	A	T	A15586274T	CC2D2A	NM_001080522.2(CC2D2A):c.4065+28A>T	noncoding	Benign
4	15587722	C	T	C15587722T	CC2D2A	NM_001080522.2(CC2D2A):c.4066-94C>T	noncoding	Benign
4	15587930	G	A	G15587930A	CC2D2A	NM_001080522.2(CC2D2A):c.4179+1G>A	coding	Pathogenic
4	15589591	T	C	T15589591C	CC2D2A	NM_001080522.2(CC2D2A):c.4226T>C:p.Ile1409Thr	coding	Pathogenic
4	15589654	T	C	T15589654C	CC2D2A	NM_001080522.2(CC2D2A):c.4289T>C:p.Val1430Ala	coding	Pathogenic
4	15589842	C	T	C15589842T	CC2D2A	NM_001080522.2(CC2D2A):c.4314+163C>T	noncoding	Benign
4	15597452	G	T	G15597452T	CC2D2A	NM_001080522.2(CC2D2A):c.4483G>T:p.Glu1495Ter	coding	Pathogenic
4	15597458	C	T	C15597458T	CC2D2A	NM_001080522.2(CC2D2A):c.4489C>T:p.Gln1497Ter	coding	Pathogenic
4	15597460	A	C	A15597460C	CC2D2A	NM_001080522.2(CC2D2A):c.4491A>C:p.Gln1497His	coding	Pathogenic
4	15599614	C	T	C15599614T	CC2D2A	NM_001080522.2(CC2D2A):c.4582C>T:p.Arg1528Cys	coding	Pathogenic/Likely_pathogenic
4	15601303	A	G	A15601303G	CC2D2A	NM_001080522.2(CC2D2A):c.4741A>G:p.Thr1581Ala	coding	Pathogenic
4	15601446	G	C	G15601446C	CC2D2A	NM_001080522.2(CC2D2A):c.*21G>C	noncoding	Benign
4	15705627	A	G	A15705627G	BST1	NM_004334.3(BST1):c.301A>G:p.Ile101Val	coding	Benign
4	15707565	C	T	C15707565T	BST1	NM_004334.3(BST1):c.370C>T:p.Arg124Cys	coding	Benign
4	15707630	A	G	A15707630G	BST1	NM_004334.3(BST1):c.435A>G:p.Arg145=	coding	Benign
4	15718917	G	A	G15718917A	BST1	NM_004334.3(BST1):c.715G>A:p.Gly239Arg	coding	Benign
4	15778624	C	T	C15778624T	CD38	NM_001775.4(CD38):c.210C>T:p.Tyr70=	coding	Benign
4	15838170	A	G	A15838170G	CD38	NM_001775.4(CD38):c.659+5A>G	noncoding	Benign
4	15936367	T	A	T15936367A	FGFBP1	NM_005130.5(FGFBP1):c.266A>T:p.Asp89Val	coding	Benign
4	15968315	T	C	T15968315C	PROM1	NM_006017.3(PROM1):c.*1078A>G	noncoding	Benign
4	15968726	T	G	T15968726G	PROM1	NM_006017.3(PROM1):c.*667A>C	noncoding	Benign
4	15980543	A	G	A15980543G	PROM1	NM_006017.3(PROM1):c.2374-6T>C	noncoding	Benign
4	15984361	G	C	G15984361C	PROM1	NM_006017.3(PROM1):c.2281-6C>G	noncoding	Benign
4	15984419	G	A	G15984419A	PROM1	NM_006017.3(PROM1):c.2281-64C>T	noncoding	Benign
4	15985956	C	T	C15985956T	PROM1	NM_006017.3(PROM1):c.2211+1G>A	noncoding	Pathogenic/Likely_pathogenic
4	15985998	G	A	G15985998A	PROM1	NM_006017.3(PROM1):c.2170C>T:p.Gln724Ter	coding	Pathogenic
4	15987568	C	T	C15987568T	PROM1	NM_006017.3(PROM1):c.2130+95G>A	noncoding	Benign
4	15988237	T	C	T15988237C	PROM1	NM_006017.3(PROM1):c.2077-521A>G	noncoding	Pathogenic/Likely_pathogenic
4	15989758	G	A	G15989758A	PROM1	NM_006017.3(PROM1):c.2050C>T:p.Arg684Ter	coding	Pathogenic
4	15989825	C	A	C15989825A	PROM1	NM_006017.3(PROM1):c.1984-1G>T	coding	Pathogenic
4	15991208	C	T	C15991208T	PROM1	NM_006017.3(PROM1):c.1983+14G>A	noncoding	Benign
4	15992396	G	A	G15992396A	PROM1	NM_006017.3(PROM1):c.1768-5C>T	noncoding	Benign/Likely_benign
4	15993983	T	C	T15993983C	PROM1	NM_006017.3(PROM1):c.1767+4A>G	noncoding	Pathogenic
4	15994028	G	A	G15994028A	PROM1	NM_006017.3(PROM1):c.1726C>T:p.Gln576Ter	coding	Pathogenic
4	15998382	T	C	T15998382C	PROM1	NM_006017.3(PROM1):c.1682+3A>G	noncoding	Pathogenic
4	16000427	T	C	T16000427C	PROM1	NM_006017.3(PROM1):c.1578+69A>G	noncoding	Benign
4	16000495	C	T	C16000495T	PROM1	NM_006017.3(PROM1):c.1578+1G>A	noncoding	Pathogenic/Likely_pathogenic
4	16000517	G	C	G16000517C	PROM1	NM_006017.3(PROM1):c.1557C>G:p.Tyr519Ter	coding	Pathogenic
4	16000517	G	T	G16000517T	PROM1	NM_006017.3(PROM1):c.1557C>A:p.Tyr519Ter	coding	Pathogenic
4	16000612	C	A	C16000612A	PROM1	NM_006017.3(PROM1):c.1462G>T:p.Gly488Ter	coding	Pathogenic
4	16006578	G	A	G16006578A	PROM1	NM_006017.3(PROM1):c.1414C>T:p.Arg472Ter	coding	Pathogenic/Likely_pathogenic
4	16008947	A	G	A16008947G	PROM1	NM_006017.3(PROM1):c.1301+2T>C	noncoding	Pathogenic/Likely_pathogenic
4	16009093	A	T	A16009093T	PROM1	NM_006017.3(PROM1):c.1157T>A:p.Leu386Ter	coding	Pathogenic
4	16009109	C	T	C16009109T	PROM1	NM_006017.3(PROM1):c.1142-1G>A	coding	Pathogenic
4	16013288	C	T	C16013288T	PROM1	NM_006017.3(PROM1):c.1128G>A:p.Thr376=	coding	Benign
4	16013299	G	A	G16013299A	PROM1	NM_006017.3(PROM1):c.1117C>T:p.Arg373Cys	coding	Pathogenic
4	16018539	C	T	C16018539T	PROM1	NM_006017.3(PROM1):c.786G>A:p.Ala262=	coding	Benign
4	16023262	A	G	A16023262G	PROM1	NM_006017.3(PROM1):c.784+64T>C	noncoding	Benign
4	16023325	C	T	C16023325T	PROM1	NM_006017.3(PROM1):c.784+1G>A	noncoding	Pathogenic/Likely_pathogenic
4	16023376	A	G	A16023376G	PROM1	NM_006017.3(PROM1):c.734T>C:p.Leu245Pro	coding	Pathogenic
4	16023380	G	A	G16023380A	PROM1	NM_006017.3(PROM1):c.730C>T:p.Arg244Ter	coding	Pathogenic
4	16024337	G	A	G16024337A	PROM1	NM_006017.3(PROM1):c.652C>T:p.Gln218Ter	coding	Pathogenic/Likely_pathogenic
4	16024347	A	T	A16024347T	PROM1	NM_006017.3(PROM1):c.642T>A:p.Tyr214Ter	coding	Pathogenic
4	16024372	A	G	A16024372G	PROM1	NM_006017.3(PROM1):c.631-14T>C	noncoding	Benign/Likely_benign
4	16033377	G	A	G16033377A	PROM1	NM_006017.3(PROM1):c.436C>T:p.Arg146Ter	coding	Pathogenic
4	16033480	T	C	T16033480C	PROM1	NM_006017.3(PROM1):c.333A>G:p.Leu111=	coding	Benign
4	16035729	C	T	C16035729T	PROM1	NM_006017.3(PROM1):c.303+6G>A	noncoding	Benign
4	16035734	C	T	C16035734T	PROM1	NM_006017.3(PROM1):c.303+1G>A	noncoding	Pathogenic/Likely_pathogenic
4	16038969	C	A	C16038969A	PROM1	NM_006017.3(PROM1):c.253G>T:p.Glu85Ter	coding	Pathogenic
4	16038994	C	T	C16038994T	PROM1	NM_006017.3(PROM1):c.228G>A:p.Leu76=	coding	Benign
4	16075708	G	A	G16075708A	PROM1	NM_006017.3(PROM1):c.199C>T:p.Gln67Ter	coding	Pathogenic
4	16075778	G	A	G16075778A	PROM1	NM_006017.3(PROM1):c.129C>T:p.Thr43=	coding	Benign
4	16075852	A	C	A16075852C	PROM1	NM_006017.3(PROM1):c.55T>G:p.Ser19Ala	coding	Benign/Likely_benign
4	16075892	G	A	G16075892A	PROM1	NM_006017.3(PROM1):c.15C>T:p.Leu5=	coding	Benign
4	16163413	G	A	G16163413A	TAPT1	NM_153365.3(TAPT1):c.1599C>T:p.Asp533=	coding	Benign
4	16163447	T	C	T16163447C	TAPT1	NM_153365.3(TAPT1):c.1565A>G:p.Asn522Ser	coding	Benign
4	16166670	C	T	C16166670T	TAPT1	NM_153365.3(TAPT1):c.1437G>A:p.Pro479=	coding	Benign
4	16166714	C	T	C16166714T	TAPT1	NM_153365.3(TAPT1):c.1393G>A:p.Glu465Lys	coding	Benign
4	16174730	C	G	C16174730G	TAPT1	NM_153365.3(TAPT1):c.1108-1G>C	coding	Pathogenic
4	16176168	T	A	T16176168A	TAPT1	NM_153365.3(TAPT1):c.1058A>T:p.Asp353Val	coding	Pathogenic
4	16176194	C	A	C16176194A	TAPT1	NM_153365.3(TAPT1):c.1032G>T:p.Met344Ile	coding	Pathogenic
4	16179570	G	T	G16179570T	TAPT1	NM_153365.3(TAPT1):c.997+7C>A	noncoding	Benign
4	16179632	A	G	A16179632G	TAPT1	NM_153365.3(TAPT1):c.942T>C:p.Tyr314=	coding	Benign
4	16179660	A	G	A16179660G	TAPT1	NM_153365.3(TAPT1):c.917-3T>C	noncoding	Benign
4	16191477	C	A	C16191477A	TAPT1	NM_153365.3(TAPT1):c.496G>T:p.Gly166Cys	coding	Benign
4	16202565	T	G	T16202565G	TAPT1	NM_153365.3(TAPT1):c.346A>C:p.Ile116Leu	coding	Benign
4	16213792	C	T	C16213792T	TAPT1	NM_153365.3(TAPT1):c.306G>A:p.Leu102=	coding	Benign
4	16759189	T	C	T16759189C	LDB2	NM_001290.5(LDB2):c.204A>G:p.Ser68=	coding	Benign
4	17486441	T	C	T17486441C	QDPR	NM_000320.3(QDPR):c.*690A>G	noncoding	Benign
4	17486449	T	C	T17486449C	QDPR	NM_000320.3(QDPR):c.*682A>G	noncoding	Benign
4	17486509	A	G	A17486509G	QDPR	NM_000320.3(QDPR):c.*622T>C	noncoding	Benign
4	17486621	G	A	G17486621A	QDPR	NM_000320.3(QDPR):c.*510C>T	noncoding	Benign
4	17486663	T	G	T17486663G	QDPR	NM_000320.3(QDPR):c.*468A>C	noncoding	Benign
4	17486723	G	A	G17486723A	QDPR	NM_000320.3(QDPR):c.*408C>T	noncoding	Benign
4	17486728	T	C	T17486728C	QDPR	NM_000320.3(QDPR):c.*403A>G	noncoding	Benign
4	17486910	C	T	C17486910T	QDPR	NM_000320.3(QDPR):c.*221G>A	noncoding	Benign
4	17486911	A	G	A17486911G	QDPR	NM_000320.3(QDPR):c.*220T>C	noncoding	Benign
4	17487205	G	A	G17487205A	QDPR	NM_000320.3(QDPR):c.661C>T:p.Arg221Ter	coding	Pathogenic
4	17492328	T	C	T17492328C	QDPR	NM_000320.3(QDPR):c.449A>G:p.Tyr150Cys	coding	Pathogenic
4	17501759	C	T	C17501759T	QDPR	NM_000320.3(QDPR):c.396G>A:p.Leu132=	coding	Benign
4	17501810	C	T	C17501810T	QDPR	NM_000320.3(QDPR):c.345G>A:p.Ser115=	coding	Benign
4	17501811	G	A	G17501811A	QDPR	NM_000320.3(QDPR):c.344C>T:p.Ser115Leu	coding	Pathogenic/Likely_pathogenic
4	17501833	A	C	A17501833C	QDPR	NM_000320.3(QDPR):c.322T>G:p.Trp108Gly	coding	Pathogenic
4	17504404	C	T	C17504404T	QDPR	NM_000320.3(QDPR):c.270G>A:p.Trp90Ter	coding	Pathogenic
4	17504419	G	A	G17504419A	QDPR	NM_000320.3(QDPR):c.255C>T:p.Cys85=	coding	Benign
4	17509363	A	G	A17509363G	QDPR	NM_000320.3(QDPR):c.106T>C:p.Trp36Arg	coding	Pathogenic
4	17511959	G	A	G17511959A	QDPR	NM_000320.3(QDPR):c.96C>T:p.Ala32=	coding	Benign
4	17511987	C	T	C17511987T	QDPR	NM_000320.3(QDPR):c.68G>A:p.Gly23Asp	coding	Pathogenic
4	17512007	G	C	G17512007C	QDPR	NM_000320.3(QDPR):c.48C>G:p.Tyr16Ter	coding	Pathogenic
4	17512054	T	A	T17512054A	QDPR	NM_000320.3(QDPR):c.1A>T:p.Met1Leu	coding	Pathogenic
4	17512101	G	C	G17512101C	QDPR	NM_001306140.1(QDPR):c.-47C>G	noncoding	Benign
4	17512135	G	A	G17512135A	QDPR	NM_001306140.1(QDPR):c.-81C>T	noncoding	Benign
4	20253842	G	C	G20253842C	SLIT2	NM_004787.4(SLIT2):c.27G>C:p.Leu9=	coding	Benign
4	20253884	G	A	G20253884A	SLIT2	NM_004787.4(SLIT2):c.69G>A:p.Val23=	coding	Benign
4	20256687	T	C	T20256687C	SLIT2	NM_004787.4(SLIT2):c.195T>C:p.Asn65=	coding	Benign
4	20257908	G	A	G20257908A	SLIT2	NM_004787.4(SLIT2):c.292G>A:p.Ala98Thr	coding	Pathogenic
4	20511123	C	T	C20511123T	SLIT2	NM_004787.4(SLIT2):c.1044C>T:p.Arg348=	coding	Benign
4	20523838	A	G	A20523838G	SLIT2	NM_004787.4(SLIT2):c.1209A>G:p.Leu403=	coding	Benign
4	20529070	G	A	G20529070A	SLIT2	NM_004787.4(SLIT2):c.1584G>A:p.Pro528=	coding	Benign
4	20531990	C	G	C20531990G	SLIT2	NM_004787.4(SLIT2):c.1620C>G:p.Leu540=	coding	Benign
4	20539435	C	T	C20539435T	SLIT2	NM_004787.4(SLIT2):c.1833-6C>T	noncoding	Benign
4	20553955	A	T	A20553955T	SLIT2	NM_004787.4(SLIT2):c.2712A>T:p.Lys904Asn	coding	Pathogenic
4	20568925	A	G	A20568925G	SLIT2	NM_004787.4(SLIT2):c.3009A>G:p.Glu1003=	coding	Benign
4	20589685	C	T	C20589685T	SLIT2	NM_004787.4(SLIT2):c.3130C>T:p.Leu1044=	coding	Benign
4	20595802	C	T	C20595802T	SLIT2	NM_004787.4(SLIT2):c.3288C>T:p.Asn1096=	coding	Benign
4	20617472	G	A	G20617472A	SLIT2	NM_004787.4(SLIT2):c.4170G>A:p.Ala1390=	coding	Benign
4	20617571	T	C	T20617571C	SLIT2	NM_004787.4(SLIT2):c.4269T>C:p.His1423=	coding	Benign
4	20758897	A	G	A20758897G	KCNIP4	NM_025221.6(KCNIP4):c.289-7T>C	noncoding	Benign
4	22388009	C	T	C22388009T	ADGRA3	NM_145290.4(ADGRA3):c.3662G>A:p.Arg1221Gln	coding	Benign
4	22388203	C	T	C22388203T	ADGRA3	NM_145290.4(ADGRA3):c.3468G>A:p.Ala1156=	coding	Benign
4	22388426	G	A	G22388426A	ADGRA3	NM_145290.4(ADGRA3):c.3245C>T:p.Thr1082Met	coding	Benign
4	22388551	C	T	C22388551T	ADGRA3	NM_145290.4(ADGRA3):c.3120G>A:p.Ala1040=	coding	Benign
4	22392616	T	G	T22392616G	ADGRA3	NM_145290.4(ADGRA3):c.2556A>C:p.Lys852Asn	coding	Benign
4	22402730	T	C	T22402730C	ADGRA3	NM_145290.4(ADGRA3):c.2302A>G:p.Ile768Val	coding	Benign
4	22402734	G	A	G22402734A	ADGRA3	NM_145290.4(ADGRA3):c.2298C>T:p.Thr766=	coding	Benign
4	22413611	G	A	G22413611A	ADGRA3	NM_145290.4(ADGRA3):c.2013C>T:p.Leu671=	coding	Benign
4	22424344	G	A	G22424344A	ADGRA3	NM_145290.4(ADGRA3):c.1452C>T:p.Asp484=	coding	Benign
4	22444998	G	A	G22444998A	ADGRA3	NM_145290.4(ADGRA3):c.681C>T:p.Gly227=	coding	Benign
4	22454918	T	A	T22454918A	ADGRA3	NM_145290.4(ADGRA3):c.421A>T:p.Ile141Leu	coding	Benign
4	23801889	G	A	G23801889A	PPARGC1A	NM_013261.5(PPARGC1A):c.2142-8C>T	noncoding	Benign
4	23813087	C	T	C23813087T	PPARGC1A	NM_013261.5(PPARGC1A):c.1832G>A:p.Arg611His	coding	Benign
4	23813787	G	A	G23813787A	PPARGC1A	NM_013261.5(PPARGC1A):c.1696C>T:p.Arg566Cys	coding	Benign
4	23814055	G	A	G23814055A	PPARGC1A	NM_013261.5(PPARGC1A):c.1428C>T:p.Asp476=	coding	Benign
4	23814170	A	G	A23814170G	PPARGC1A	NM_013261.5(PPARGC1A):c.1313T>C:p.Leu438Ser	coding	Benign
4	23814255	G	T	G23814255T	PPARGC1A	NM_013261.5(PPARGC1A):c.1228C>A:p.Leu410Ile	coding	Benign
4	23831596	G	A	G23831596A	PPARGC1A	NM_013261.5(PPARGC1A):c.390C>T:p.Asp130=	coding	Benign
4	23831620	C	T	C23831620T	PPARGC1A	NM_013261.5(PPARGC1A):c.366G>A:p.Glu122=	coding	Benign
4	24799530	G	C	G24799530C	SOD3	NM_003102.4(SOD3):c.9G>C:p.Ala3=	coding	Benign
4	24799614	G	A	G24799614A	SOD3	NM_003102.4(SOD3):c.93G>A:p.Ser31=	coding	Benign
4	24799792	G	A	G24799792A	SOD3	NM_003102.4(SOD3):c.271G>A:p.Ala91Thr	coding	Benign
4	24800212	C	G	C24800212G	SOD3	NM_003102.3(SOD3):c.691C>G:p.Arg231Gly	coding	Pathogenic
4	25120083	G	A	G25120083A	SEPSECS	NM_016955.4(SEPSECS):c.*3848C>T	noncoding	Benign
4	25120156	T	C	T25120156C	SEPSECS	NM_016955.4(SEPSECS):c.*3775A>G	noncoding	Benign
4	25120965	T	C	T25120965C	SEPSECS	NM_016955.4(SEPSECS):c.*2966A>G	noncoding	Benign
4	25121091	A	G	A25121091G	SEPSECS	NM_016955.4(SEPSECS):c.*2840T>C	noncoding	Benign
4	25121808	T	C	T25121808C	SEPSECS	NM_016955.4(SEPSECS):c.*2123A>G	noncoding	Benign
4	25123124	T	C	T25123124C	SEPSECS	NM_016955.4(SEPSECS):c.*807A>G	noncoding	Benign
4	25123250	T	G	T25123250G	SEPSECS	NM_016955.4(SEPSECS):c.*681A>C	noncoding	Benign
4	25123477	G	A	G25123477A	SEPSECS	NM_016955.4(SEPSECS):c.*454C>T	noncoding	Benign
4	25123708	C	T	C25123708T	SEPSECS	NM_016955.4(SEPSECS):c.*223G>A	noncoding	Benign
4	25123971	T	A	T25123971A	SEPSECS	NM_016955.4(SEPSECS):c.1466A>T:p.Asp489Val	coding	Pathogenic
4	25124043	C	T	C25124043T	SEPSECS	NM_016955.4(SEPSECS):c.1394G>A:p.Arg465Gln	coding	Benign/Likely_benign
4	25124081	C	G	C25124081G	SEPSECS	NM_016955.4(SEPSECS):c.1356G>C:p.Lys452Asn	coding	Benign
4	25125687	T	C	T25125687C	SEPSECS	NM_016955.4(SEPSECS):c.1211+7A>G	noncoding	Benign
4	25125777	T	C	T25125777C	SEPSECS	NM_016955.4(SEPSECS):c.1128A>G:p.Thr376=	coding	Benign
4	25127252	A	G	A25127252G	SEPSECS	NM_016955.4(SEPSECS):c.1120+12T>C	noncoding	Benign
4	25144550	T	C	T25144550C	SEPSECS	NM_016955.4(SEPSECS):c.1026+224A>G	noncoding	Benign
4	25144777	T	C	T25144777C	SEPSECS	NM_016955.4(SEPSECS):c.1023A>G:p.Arg341=	coding	Benign
4	25144799	T	C	T25144799C	SEPSECS	NM_016955.4(SEPSECS):c.1001A>G:p.Tyr334Cys	coding	Pathogenic
4	25144870	A	C	A25144870C	SEPSECS	NM_016955.4(SEPSECS):c.935-5T>G	noncoding	Benign
4	25151992	G	A	G25151992A	SEPSECS	NM_016955.4(SEPSECS):c.772C>T:p.Gln258Ter	coding	Pathogenic
4	25154861	A	G	A25154861G	SEPSECS	NM_016955.4(SEPSECS):c.701+137T>C	noncoding	Benign
4	25156083	C	T	C25156083T	SEPSECS	NM_016955.4(SEPSECS):c.501G>A:p.Trp167Ter	coding	Pathogenic
4	25156600	C	T	C25156600T	SEPSECS	NM_016955.4(SEPSECS):c.388+256G>A	noncoding	Benign
4	25156955	G	A	G25156955A	SEPSECS	NM_016955.4(SEPSECS):c.289C>T:p.Arg97Ter	coding	Pathogenic
4	25157128	T	C	T25157128C	SEPSECS	NM_016955.4(SEPSECS):c.270-154A>G	noncoding	Benign
4	25160325	C	T	C25160325T	SEPSECS	NM_016955.4(SEPSECS):c.45G>A:p.Pro15=	coding	Benign/Likely_benign
4	25160329	G	T	G25160329T	SEPSECS	NM_016955.4(SEPSECS):c.41C>A:p.Ser14Ter	coding	Pathogenic
4	25160634	A	C	A25160634C	SEPSECS	NC_000004.12:g.25160634A>C	noncoding	Benign
4	25234173	C	A	C25234173A	PI4K2B	NM_018323.4(PI4K2B):c.10C>A:p.Pro4Thr	coding	Benign
4	25259141	G	T	G25259141T	PI4K2B	NM_018323.4(PI4K2B):c.861G>T:p.Gln287His	coding	Benign
4	25312898	C	T	C25312898T	ZCCHC4	NM_024936.3(ZCCHC4):c.89C>T:p.Pro30Leu	coding	Benign
4	25333296	A	G	A25333296G	ZCCHC4	NM_024936.3(ZCCHC4):c.443A>G:p.Asn148Ser	coding	Benign
4	25333328	C	A	C25333328A	ZCCHC4	NM_024936.3(ZCCHC4):c.475C>A:p.Gln159Lys	coding	Benign
4	25351693	G	A	G25351693A	ZCCHC4	NM_024936.3(ZCCHC4):c.1011+4G>A	noncoding	Benign
4	25362237	C	T	C25362237T	ZCCHC4	NM_024936.3(ZCCHC4):c.1145C>T:p.Pro382Leu	coding	Benign
4	25662542	C	T	C25662542T	SLC34A2	NM_006424.3(SLC34A2):c.42C>T:p.Pro14=	coding	Benign
4	25662726	T	C	T25662726C	SLC34A2	NM_006424.3(SLC34A2):c.134T>C:p.Val45Ala	coding	Benign
4	25662818	C	T	C25662818T	SLC34A2	NM_006424.3(SLC34A2):c.226C>T:p.Gln76Ter	coding	Pathogenic
4	25664267	G	C	G25664267C	SLC34A2	NM_006424.3(SLC34A2):c.316G>C:p.Gly106Arg	coding	Pathogenic
4	25667872	T	C	T25667872C	SLC34A2	NM_006424.3(SLC34A2):c.524-8T>C	noncoding	Benign
4	25667908	T	C	T25667908C	SLC34A2	NM_006424.3(SLC34A2):c.552T>C:p.Ile184=	coding	Benign
4	25669677	C	T	C25669677T	SLC34A2	NM_006424.3(SLC34A2):c.666C>T:p.Phe222=	coding	Benign
4	25669710	C	T	C25669710T	SLC34A2	NM_006424.3(SLC34A2):c.699C>T:p.Pro233=	coding	Benign
4	25670747	A	G	A25670747G	SLC34A2	NM_006424.3(SLC34A2):c.841A>G:p.Lys281Glu	coding	Benign
4	25671609	T	G	T25671609G	SLC34A2	NM_006424.3(SLC34A2):c.936T>G:p.Ile312Met	coding	Benign
4	25674321	G	C	G25674321C	SLC34A2	NM_006424.3(SLC34A2):c.1242G>C:p.Leu414Phe	coding	Benign
4	25676213	C	G	C25676213G	SLC34A2	NM_006424.3(SLC34A2):c.1537C>G:p.Arg513Gly	coding	Benign
4	25676577	A	G	A25676577G	SLC34A2	NM_006424.3(SLC34A2):c.1901A>G:p.Asp634Gly	coding	Benign
4	25757712	C	G	C25757712G	SEL1L3	NM_015187.5(SEL1L3):c.3162G>C:p.Trp1054Cys	coding	Benign
4	25790562	T	C	T25790562C	SEL1L3	NM_015187.5(SEL1L3):c.1969A>G:p.Thr657Ala	coding	Benign
4	25804727	T	C	T25804727C	SEL1L3	NM_015187.5(SEL1L3):c.1590A>G:p.Val530=	coding	Benign
4	25835256	G	T	G25835256T	SEL1L3	NM_015187.5(SEL1L3):c.801C>A:p.Phe267Leu	coding	Benign
4	25847361	A	G	A25847361G	SEL1L3	NM_015187.5(SEL1L3):c.666T>C:p.Leu222=	coding	Benign
4	25847707	T	C	T25847707C	SEL1L3	NM_015187.5(SEL1L3):c.320A>G:p.Gln107Arg	coding	Benign
4	25847741	C	T	C25847741T	SEL1L3	NM_015187.5(SEL1L3):c.286G>A:p.Val96Ile	coding	Benign
4	26318442	G	A	G26318442A	RBPJ	NM_005349.3(RBPJ):c.-1504G>A	noncoding	Benign
4	26320917	G	A	G26320917A	RBPJ	NM_005349.3(RBPJ):c.59+102G>A	coding	Benign
4	26331770	T	G	T26331770G	RBPJ	NM_005349.3(RBPJ):c.59+10955T>G	noncoding	Benign
4	26334621	C	T	C26334621T	RBPJ	NM_005349.3(RBPJ):c.59+13806C>T	noncoding	Benign
4	26350741	T	G	T26350741G	RBPJ	NM_005349.3(RBPJ):c.59+29926T>G	noncoding	Benign
4	26359946	G	A	G26359946A	RBPJ	NM_005349.3(RBPJ):c.60-26407G>A	noncoding	Benign
4	26365497	T	C	T26365497C	RBPJ	NM_005349.3(RBPJ):c.60-20856T>C	noncoding	Benign
4	26383713	G	A	G26383713A	RBPJ	NM_005349.3(RBPJ):c.60-2640G>A	noncoding	Benign
4	26401045	C	T	C26401045T	RBPJ	NM_005349.3(RBPJ):c.99-5130C>T	noncoding	Benign
4	26406256	T	C	T26406256C	RBPJ	NM_005349.3(RBPJ):c.180T>C:p.Tyr60=	coding	Benign
4	26406264	A	G	A26406264G	RBPJ	NM_005349.3(RBPJ):c.188A>G:p.Glu63Gly	coding	Pathogenic
4	26413148	G	C	G26413148C	RBPJ	NM_005349.3(RBPJ):c.195-2327G>C	noncoding	Benign
4	26416046	G	A	G26416046A	RBPJ	NM_005349.3(RBPJ):c.360+406G>A	noncoding	Benign
4	26420695	A	G	A26420695G	RBPJ	NM_005349.3(RBPJ):c.505A>G:p.Lys169Glu	coding	Pathogenic
4	26430032	G	A	G26430032A	RBPJ	NM_005349.3(RBPJ):c.1062G>A:p.Val354=	coding	Benign
4	26430827	C	T	C26430827T	RBPJ	NM_005349.3(RBPJ):c.1323C>T:p.Thr441=	coding	Benign
4	26430875	A	G	A26430875G	RBPJ	NM_005349.3(RBPJ):c.1371A>G:p.Ala457=	coding	Benign
4	26450075	G	A	G26450075A	RBPJ	NC_000004.11:g.26451697G>A	noncoding	Benign
4	26453607	G	C	G26453607C	RBPJ	NC_000004.11:g.26455229G>C	noncoding	Benign
4	26481832	C	T	C26481832T	CCKAR	NM_000730.3(CCKAR):c.1093G>A:p.Val365Ile	coding	Benign
4	26490207	C	G	C26490207G	CCKAR	NM_000730.3(CCKAR):c.61G>C:p.Gly21Arg	coding	Benign
4	30722556	G	A	G30722556A	PCDH7	NM_001173523.2(PCDH7):c.1134G>A:p.Val378=	coding	Benign
4	30722613	C	T	C30722613T	PCDH7	NM_001173523.2(PCDH7):c.1191C>T:p.Asp397=	coding	Benign
4	30723126	C	T	C30723126T	PCDH7	NM_001173523.2(PCDH7):c.1704C>T:p.Ala568=	coding	Benign
4	30723650	C	T	C30723650T	PCDH7	NM_001173523.2(PCDH7):c.2228C>T:p.Thr743Ile	coding	Benign
4	30724071	C	T	C30724071T	PCDH7	NM_001173523.2(PCDH7):c.2649C>T:p.Gly883=	coding	Benign
4	31142531	G	A	G31142531A	PCDH7	NM_001173523.2(PCDH7):c.3450G>A:p.Glu1150=	coding	Benign
4	31142567	C	T	C31142567T	PCDH7	NM_001173523.2(PCDH7):c.3486C>T:p.Arg1162=	coding	Benign
4	37443522	A	G	A37443522G	NWD2	NM_001144990.2(NWD2):c.1534A>G:p.Ile512Val	coding	Benign
4	37445207	A	T	A37445207T	NWD2	NM_001144990.2(NWD2):c.3219A>T:p.Ala1073=	coding	Benign
4	37638458	A	G	A37638458G	RELL1	NM_001085400.2(RELL1):c.432T>C:p.Tyr144=	coding	Benign
4	37686239	A	G	A37686239G	RELL1	NM_001085400.2(RELL1):c.49T>C:p.Phe17Leu	coding	Benign
4	37829982	G	A	G37829982A	PGM2	NM_018290.4(PGM2):c.100G>A:p.Ala34Thr	coding	Benign
4	37845689	C	T	C37845689T	PGM2	NM_018290.4(PGM2):c.966C>T:p.Asp322=	coding	Benign
4	37902140	C	T	C37902140T	TBC1D1	NM_015173.4(TBC1D1):c.45C>T:p.Asn15=	coding	Benign
4	37902302	A	G	A37902302G	TBC1D1	NM_015173.4(TBC1D1):c.207A>G:p.Ser69=	coding	Benign
4	38014736	C	A	C38014736A	TBC1D1	NM_015173.4(TBC1D1):c.645C>A:p.Asn215Lys	coding	Benign
4	38020598	G	A	G38020598A	TBC1D1	NM_015173.4(TBC1D1):c.980G>A:p.Arg327Lys	coding	Benign
4	38049800	C	T	C38049800T	TBC1D1	NM_015173.4(TBC1D1):c.1812C>T:p.Cys604=	coding	Benign
4	38049878	A	G	A38049878G	TBC1D1	NM_015173.4(TBC1D1):c.1890A>G:p.Thr630=	coding	Benign
4	38051978	C	T	C38051978T	TBC1D1	NM_015173.4(TBC1D1):c.1910+2080C>T	coding	Benign
4	38773784	G	A	G38773784A	TLR10	NM_030956.4(TLR10):c.1807C>T:p.Leu603=	coding	Benign
4	38773881	G	A	G38773881A	TLR10	NM_030956.4(TLR10):c.1710C>T:p.His570=	coding	Benign
4	38774085	G	A	G38774085A	TLR10	NM_030956.4(TLR10):c.1506C>T:p.Ser502=	coding	Benign
4	38774483	G	A	G38774483A	TLR10	NM_030956.4(TLR10):c.1108C>T:p.Gln370Ter	coding	Benign
4	38775321	T	C	T38775321C	TLR10	NM_030956.4(TLR10):c.270A>G:p.Lys90=	coding	Benign
4	38796804	G	A	G38796804A	TLR1	NM_003263.4(TLR1):c.2028C>T:p.Gly676=	coding	Benign
4	38796894	G	A	G38796894A	TLR1	NM_003263.4(TLR1):c.1938C>T:p.His646=	coding	Benign
4	38797072	A	C	A38797072C	TLR1	NM_003263.4(TLR1):c.1760T>G:p.Val587Gly	coding	Benign
4	38797207	A	G	A38797207G	TLR1	NM_003263.4(TLR1):c.1625T>C:p.Val542Ala	coding	Benign
4	38797248	A	G	A38797248G	TLR1	NM_003263.4(TLR1):c.1584T>C:p.Cys528=	coding	Benign
4	38797285	A	T	A38797285T	TLR1	NM_003263.4(TLR1):c.1547T>A:p.Met516Lys	coding	Benign
4	38797328	C	T	C38797328T	TLR1	NM_003263.4(TLR1):c.1504G>A:p.Val502Ile	coding	Benign
4	38797350	T	C	T38797350C	TLR1	NM_003263.4(TLR1):c.1482A>G:p.Val494=	coding	Benign
4	38797418	C	T	C38797418T	TLR1	NM_003263.4(TLR1):c.1414G>A:p.Glu472Lys	coding	Benign
4	38797778	G	T	G38797778T	TLR1	NM_003263.4(TLR1):c.1054C>A:p.His352Asn	coding	Benign
4	38798034	C	T	C38798034T	TLR1	NM_003263.4(TLR1):c.798G>A:p.Gln266=	coding	Benign
4	38798661	T	C	T38798661C	TLR1	NM_003263.4(TLR1):c.171A>G:p.Ile57Met	coding	Benign
4	38798702	A	G	A38798702G	TLR1	NM_003263.4(TLR1):c.130T>C:p.Ser44Pro	coding	Benign
4	38827699	C	A	C38827699A	TLR6	NM_006068.4(TLR6):c.1775G>T:p.Gly592Val	coding	Benign
4	38828081	C	T	C38828081T	TLR6	NM_006068.4(TLR6):c.1393G>A:p.Val465Ile	coding	Benign
4	38828613	T	C	T38828613C	TLR6	NM_006068.4(TLR6):c.861A>G:p.Thr287=	coding	Benign
4	39182549	A	G	A39182549G	WDR19	NM_025132.4(WDR19):c.-9A>G	noncoding	Benign
4	39185739	T	C	T39185739C	WDR19	NM_025132.4(WDR19):c.20T>C:p.Leu7Pro	coding	Pathogenic
4	39186548	T	G	T39186548G	WDR19	NM_025132.4(WDR19):c.108T>G:p.Tyr36Ter	coding	Pathogenic
4	39189694	T	A	T39189694A	WDR19	NM_025132.4(WDR19):c.203T>A:p.Val68Asp	coding	Pathogenic
4	39189766	T	G	T39189766G	WDR19	NM_025132.4(WDR19):c.275T>G:p.Leu92Ter	coding	Pathogenic
4	39194507	C	T	C39194507T	WDR19	NM_025132.4(WDR19):c.291-37C>T	noncoding	Benign
4	39199476	A	G	A39199476G	WDR19	NM_025132.4(WDR19):c.407-2A>G	noncoding	Pathogenic
4	39199546	G	A	G39199546A	WDR19	NM_025132.4(WDR19):c.475G>A:p.Asp159Asn	coding	Pathogenic
4	39205232	C	T	C39205232T	WDR19	NM_025132.4(WDR19):c.682C>T:p.Gln228Ter	coding	Pathogenic
4	39205592	T	C	T39205592C	WDR19	NM_025132.4(WDR19):c.746T>C:p.Phe249Ser	coding	Pathogenic
4	39205698	A	G	A39205698G	WDR19	NM_025132.4(WDR19):c.852A>G:p.Ser284=	coding	Benign
4	39205726	G	A	G39205726A	WDR19	NM_025132.4(WDR19):c.880G>A:p.Gly294Arg	coding	Pathogenic
4	39214601	C	T	C39214601T	WDR19	NM_025132.4(WDR19):c.891C>T:p.Cys297=	coding	Benign
4	39214620	G	A	G39214620A	WDR19	NM_025132.4(WDR19):c.910G>A:p.Val304Ile	coding	Benign
4	39215913	T	G	T39215913G	WDR19	NM_025132.4(WDR19):c.1034T>G:p.Val345Gly	coding	Pathogenic
4	39217133	G	A	G39217133A	WDR19	NM_025132.4(WDR19):c.1250-1G>A	noncoding	Pathogenic
4	39217973	T	C	T39217973C	WDR19	NM_025132.4(WDR19):c.1357-10T>C	noncoding	Benign
4	39218103	G	C	G39218103C	WDR19	NM_025132.4(WDR19):c.1477G>C:p.Asp493His	coding	Pathogenic
4	39224882	A	G	A39224882G	WDR19	NM_025132.4(WDR19):c.1480-2A>G	noncoding	Pathogenic
4	39224887	G	C	G39224887C	WDR19	NM_025132.4(WDR19):c.1483G>C:p.Gly495Arg	coding	Pathogenic
4	39224985	C	A	C39224985A	WDR19	NM_025132.4(WDR19):c.1581C>A:p.Thr527=	coding	Benign
4	39224999	T	C	T39224999C	WDR19	NM_025132.4(WDR19):c.1595T>C:p.Ile532Thr	coding	Benign/Likely_benign
4	39225011	G	C	G39225011C	WDR19	NM_025132.4(WDR19):c.1607G>C:p.Ser536Thr	coding	Benign
4	39225027	C	G	C39225027G	WDR19	NM_025132.4(WDR19):c.1623C>G:p.Tyr541Ter	coding	Pathogenic
4	39228623	A	G	A39228623G	WDR19	NM_025132.4(WDR19):c.1915A>G:p.Ser639Gly	coding	Benign/Likely_benign
4	39231910	G	A	G39231910A	WDR19	NM_025132.4(WDR19):c.2096G>A:p.Arg699Gln	coding	Benign
4	39231943	T	C	T39231943C	WDR19	NM_025132.4(WDR19):c.2129T>C:p.Leu710Ser	coding	Pathogenic
4	39234876	G	A	G39234876A	WDR19	NM_025132.4(WDR19):c.2363+1G>A	coding	Pathogenic/Likely_pathogenic
4	39244470	C	T	C39244470T	WDR19	NM_025132.4(WDR19):c.2563C>T:p.Gln855Ter	coding	Pathogenic
4	39255873	C	T	C39255873T	WDR19	NM_025132.4(WDR19):c.3027C>T:p.Asp1009=	coding	Benign/Likely_benign
4	39257439	T	C	T39257439C	WDR19	NM_025132.4(WDR19):c.3115-47T>C	noncoding	Benign
4	39257563	G	A	G39257563A	WDR19	NM_025132.4(WDR19):c.3183+9G>A	noncoding	Benign/Likely_benign
4	39257570	A	G	A39257570G	WDR19	NM_025132.4(WDR19):c.3183+16A>G	noncoding	Benign
4	39266129	G	A	G39266129A	WDR19	NM_025132.4(WDR19):c.3250G>A:p.Gly1084Ser	coding	Benign
4	39268040	C	T	C39268040T	WDR19	NM_025132.4(WDR19):c.3307C>T:p.Arg1103Ter	coding	Pathogenic
4	39270033	A	G	A39270033G	WDR19	NM_025132.4(WDR19):c.3416A>G:p.Gln1139Arg	coding	Benign
4	39272978	A	C	A39272978C	WDR19	NM_025132.4(WDR19):c.3484-2A>C	noncoding	Pathogenic
4	39273062	G	A	G39273062A	WDR19	NM_025132.4(WDR19):c.3565+1G>A	coding	Pathogenic
4	39274945	G	A	G39274945A	WDR19	NM_025132.4(WDR19):c.3703G>A:p.Glu1235Lys	coding	Pathogenic
4	39274959	G	A	G39274959A	WDR19	NM_025132.4(WDR19):c.3716+1G>A	coding	Pathogenic
4	39277103	G	A	G39277103A	WDR19	NM_025132.4(WDR19):c.3800G>A:p.Cys1267Tyr	coding	Pathogenic
4	39278678	G	A	G39278678A	WDR19	NM_025132.4(WDR19):c.13+15G>A	noncoding	Benign/Likely_benign
4	39285702	C	T	C39285702T	WDR19	NM_025132.4(WDR19):c.*229C>T	noncoding	Benign
4	39288842	T	C	T39288842C	RFC1	NM_002913.5(RFC1):c.3363A>G:p.Lys1121=	coding	Benign
4	39295708	G	T	G39295708T	RFC1	NM_002913.5(RFC1):c.2860C>A:p.Gln954Lys	coding	Benign
4	39304851	C	G	C39304851G	RFC1	NM_002913.5(RFC1):c.2073G>C:p.Glu691Asp	coding	Benign
4	39308729	T	C	T39308729C	RFC1	NM_002913.5(RFC1):c.1792A>G:p.Ile598Val	coding	Benign
4	39407142	C	G	C39407142G	KLB	NM_175737.4(KLB):c.193C>G:p.Pro65Ala	coding	Benign
4	39407446	T	C	T39407446C	KLB	NM_175737.4(KLB):c.497T>C:p.Val166Ala	coding	Benign
4	39434314	G	A	G39434314A	KLB	NM_175737.4(KLB):c.930G>A:p.Ser310=	coding	Benign
4	39434581	G	A	G39434581A	KLB	NM_175737.4(KLB):c.1197G>A:p.Ala399=	coding	Benign
4	39447330	G	T	G39447330T	KLB	NM_175737.4(KLB):c.2604G>T:p.Gly868=	coding	Benign
4	39447442	T	C	T39447442C	KLB	NM_175737.4(KLB):c.2716T>C:p.Tyr906His	coding	Benign
4	39448584	C	G	C39448584G	KLB	NM_175737.4(KLB):c.3033C>G:p.Leu1011=	coding	Benign
4	39459083	C	T	C39459083T	LIAS	NM_006859.4(LIAS):c.-35C>T	noncoding	Benign
4	39459086	A	T	A39459086T	LIAS	NM_006859.4(LIAS):c.-32A>T	noncoding	Benign
4	39459177	G	A	G39459177A	LIAS	NM_006859.4(LIAS):c.45+15G>A	noncoding	Benign
4	39460801	A	C	A39460801C	LIAS	NM_006859.4(LIAS):c.57A>C:p.Arg19Ser	coding	Benign/Likely_benign
4	39462274	T	C	T39462274C	LIAS	NM_006859.4(LIAS):c.297T>C:p.Asn99=	coding	Benign/Likely_benign
4	39462283	C	A	C39462283A	LIAS	NM_006859.4(LIAS):c.306C>A:p.Leu102=	coding	Benign
4	39463613	C	A	C39463613A	LIAS	NM_006859.4(LIAS):c.393+8C>A	coding	Benign
4	39463615	G	A	G39463615A	LIAS	NM_006859.4(LIAS):c.393+10G>A	coding	Benign
4	39465159	A	G	A39465159G	LIAS	NM_006859.4(LIAS):c.507A>G:p.Glu169=	coding	Benign
4	39467393	T	C	T39467393C	LIAS	NM_006859.4(LIAS):c.609-125T>C	noncoding	Benign
4	39467554	T	A	T39467554A	LIAS	NM_006859.4(LIAS):c.645T>A:p.Asp215Glu	coding	Pathogenic
4	39467635	G	A	G39467635A	LIAS	NM_006859.4(LIAS):c.726G>A:p.Pro242=	coding	Benign
4	39467659	A	T	A39467659T	LIAS	NM_006859.4(LIAS):c.737+13A>T	noncoding	Benign
4	39471176	T	A	T39471176A	LIAS	NM_006859.4(LIAS):c.884-60T>A	noncoding	Benign
4	39471222	T	A	T39471222A	LIAS	NM_006859.4(LIAS):c.884-14T>A	noncoding	Benign
4	39473248	G	A	G39473248A	LIAS	NM_006859.4(LIAS):c.1066+37G>A	noncoding	Benign
4	39473454	A	C	A39473454C	LIAS	NM_006859.4(LIAS):c.1066+243A>C	noncoding	Benign
4	39505308	T	C	T39505308C	UGDH	NM_003359.4(UGDH):c.1100A>G:p.Tyr367Cys	coding	Pathogenic/Likely_pathogenic
4	39505705	C	T	C39505705T	UGDH	NM_003359.4(UGDH):c.950G>A:p.Arg317Gln	coding	Pathogenic
4	39514103	C	T	C39514103T	UGDH	NM_003359.4(UGDH):c.244G>A:p.Ala82Thr	coding	Pathogenic/Likely_pathogenic
4	39514133	A	C	A39514133C	UGDH	NM_003359.4(UGDH):c.214T>G:p.Ser72Ala	coding	Pathogenic/Likely_pathogenic
4	39514154	G	A	G39514154A	UGDH	NM_003359.4(UGDH):c.193C>T:p.Arg65Ter	coding	Pathogenic/Likely_pathogenic
4	39521382	G	A	G39521382A	UGDH	NM_003359.4(UGDH):c.131C>T:p.Ala44Val	coding	Pathogenic/Likely_pathogenic
4	39521472	T	C	T39521472C	UGDH	NM_003359.4(UGDH):c.41A>G:p.Tyr14Cys	coding	Pathogenic/Likely_pathogenic
4	40102431	A	G	A40102431G	N4BP2	NM_018177.6(N4BP2):c.586A>G:p.Met196Val	coding	Benign
4	40120757	G	A	G40120757A	N4BP2	NM_018177.6(N4BP2):c.2646G>A:p.Met882Ile	coding	Benign
4	40243896	C	G	C40243896G	RHOH	NM_004310.5(RHOH):c.510C>G:p.Ala170=	coding	Benign
4	40243896	C	T	C40243896T	RHOH	NM_004310.5(RHOH):c.510C>T:p.Ala170=	coding	Benign
4	40432846	A	G	A40432846G	RBM47	NM_001098634.2(RBM47):c.1347T>C:p.Ile449=	coding	Benign
4	41014404	G	A	G41014404A	APBB2	NM_004307.2(APBB2):c.20-6C>T	noncoding	Benign
4	41256906	C	G	C41256906G	UCHL1	NM_004181.4(UCHL1):c.-71C>G	noncoding	Benign
4	41256953	A	G	A41256953G	UCHL1	NM_004181.5(UCHL1):c.-24A>G	noncoding	Benign
4	41256961	C	T	C41256961T	UCHL1	NM_004181.5(UCHL1):c.-16C>T	noncoding	Benign
4	41256996	A	C	A41256996C	UCHL1	NM_004181.5(UCHL1):c.20A>C:p.Glu7Ala	coding	Pathogenic
4	41257132	T	C	T41257132C	UCHL1	NM_004181.5(UCHL1):c.45+6T>C	noncoding	Benign
4	41257616	C	A	C41257616A	UCHL1	NM_004181.5(UCHL1):c.53C>A:p.Ser18Tyr	coding	Benign
4	41260642	C	T	C41260642T	UCHL1	NM_004181.5(UCHL1):c.175-5C>T	noncoding	Benign/Likely_benign
4	41264134	C	T	C41264134T	UCHL1	NM_004181.5(UCHL1):c.558C>T:p.Gly186=	coding	Benign
4	41268010	A	G	A41268010G	UCHL1	NM_004181.5(UCHL1):c.609A>G:p.Glu203=	coding	Benign
4	41268048	C	A	C41268048A	UCHL1	NM_004181.5(UCHL1):c.647C>A:p.Ala216Asp	coding	Pathogenic
4	41268367	G	A	G41268367A	UCHL1	NM_004181.5(UCHL1):c.*294G>A	noncoding	Benign
4	41268382	T	C	T41268382C	UCHL1	NM_004181.5(UCHL1):c.*309T>C	noncoding	Benign
4	41744145	T	A	T41744145A	PHOX2B	NM_003924.3(PHOX2B):c.*1662A>T	noncoding	Benign
4	41744420	G	A	G41744420A	PHOX2B	NM_003924.3(PHOX2B):c.*1387C>T	noncoding	Benign
4	41744426	G	A	G41744426A	PHOX2B	NM_003924.3(PHOX2B):c.*1381C>T	noncoding	Benign
4	41744443	C	T	C41744443T	PHOX2B	NM_003924.3(PHOX2B):c.*1364G>A	noncoding	Benign
4	41744460	T	C	T41744460C	PHOX2B	NM_003924.3(PHOX2B):c.*1347A>G	noncoding	Benign
4	41744651	G	T	G41744651T	PHOX2B	NM_003924.3(PHOX2B):c.*1156C>A	noncoding	Benign
4	41744681	G	C	G41744681C	PHOX2B	NM_003924.3(PHOX2B):c.*1126C>G	noncoding	Benign
4	41744969	T	C	T41744969C	PHOX2B	NM_003924.4(PHOX2B):c.*838A>G	noncoding	Benign
4	41745207	A	C	A41745207C	PHOX2B	NM_003924.3(PHOX2B):c.*600T>G	noncoding	Benign
4	41745257	C	T	C41745257T	PHOX2B	NM_003924.3(PHOX2B):c.*550G>A	noncoding	Benign
4	41745529	A	T	A41745529T	PHOX2B	NM_003924.4(PHOX2B):c.*278T>A	noncoding	Benign
4	41745613	G	A	G41745613A	PHOX2B	NM_003924.3(PHOX2B):c.*194C>T	noncoding	Benign
4	41745646	C	T	C41745646T	PHOX2B	NM_003924.3(PHOX2B):c.*161G>A	noncoding	Benign
4	41745727	C	T	C41745727T	PHOX2B	NM_003924.3(PHOX2B):c.*80G>A	noncoding	Benign
4	41745882	G	T	G41745882T	PHOX2B	NM_003924.4(PHOX2B):c.870C>A:p.Pro290=	coding	Benign
4	41745920	C	T	C41745920T	PHOX2B	NM_003924.3(PHOX2B):c.832G>A:p.Gly278Ser	coding	Benign/Likely_benign
4	41745990	T	G	T41745990G	PHOX2B	NM_003924.4(PHOX2B):c.762A>C:p.Ala254=	coding	Benign
4	41746002	C	T	C41746002T	PHOX2B	NM_003924.3(PHOX2B):c.750G>A:p.Ala250=	coding	Benign/Likely_benign
4	41746026	T	C	T41746026C	PHOX2B	NM_003924.4(PHOX2B):c.726A>G:p.Ala242=	coding	Benign/Likely_benign
4	41746110	G	A	G41746110A	PHOX2B	NM_003924.3(PHOX2B):c.642C>T:p.Gly214=	coding	Benign/Likely_benign
4	41746200	G	A	G41746200A	PHOX2B	NM_003924.4(PHOX2B):c.552C>T:p.Ser184=	coding	Benign
4	41746266	G	A	G41746266A	PHOX2B	NM_003924.3(PHOX2B):c.486C>T:p.Ala162=	coding	Benign/Likely_benign
4	41746302	G	C	G41746302C	PHOX2B	NM_003924.4(PHOX2B):c.450C>G:p.Arg150=	coding	Benign
4	41746306	C	A	C41746306A	PHOX2B	NM_003924.4(PHOX2B):c.446G>T:p.Arg149Leu	coding	Pathogenic
4	41747356	C	T	C41747356T	PHOX2B	NM_003924.4(PHOX2B):c.422G>A:p.Arg141Gln	coding	Pathogenic
4	41747357	G	C	G41747357C	PHOX2B	NM_003924.3(PHOX2B):c.421C>G:p.Arg141Gly	coding	Pathogenic
4	41747490	G	C	G41747490C	PHOX2B	NM_003924.3(PHOX2B):c.288C>G:p.Arg96=	coding	Benign/Likely_benign
4	41748377	G	A	G41748377A	PHOX2B	NM_003924.4(PHOX2B):c.234C>T:p.Tyr78=	coding	Benign/Likely_benign
4	41748377	G	C	G41748377C	PHOX2B	NM_003924.4(PHOX2B):c.234C>G:p.Tyr78Ter	coding	Pathogenic
4	41748391	G	A	G41748391A	PHOX2B	NM_003924.3(PHOX2B):c.220C>T:p.Gln74Ter	coding	Pathogenic
4	42893291	G	A	G42893291A	GRXCR1	NM_001080476.2(GRXCR1):c.25G>A:p.Glu9Lys	coding	Benign
4	42893345	C	T	C42893345T	GRXCR1	NM_001080476.3(GRXCR1):c.79C>T:p.Arg27Ter	coding	Pathogenic
4	42893406	C	T	C42893406T	GRXCR1	NM_001080476.2(GRXCR1):c.140C>T:p.Ala47Val	coding	Benign
4	42893495	C	T	C42893495T	GRXCR1	NM_001080476.2(GRXCR1):c.229C>T:p.Gln77Ter	coding	Pathogenic
4	42893538	G	T	G42893538T	GRXCR1	NM_001080476.2(GRXCR1):c.272G>T:p.Gly91Val	coding	Benign/Likely_benign
4	42962890	A	G	A42962890G	GRXCR1	NM_001080476.2(GRXCR1):c.385-2A>G	noncoding	Pathogenic
4	42962919	C	T	C42962919T	GRXCR1	NM_001080476.2(GRXCR1):c.412C>T:p.Arg138Cys	coding	Pathogenic
4	42963142	A	C	A42963142C	GRXCR1	NM_001080476.2(GRXCR1):c.627+8A>C	noncoding	Benign
4	42963153	A	T	A42963153T	GRXCR1	NM_001080476.2(GRXCR1):c.627+19A>T	noncoding	Pathogenic
4	43020345	C	A	C43020345A	GRXCR1	NM_001080476.2(GRXCR1):c.628-9C>A	noncoding	Pathogenic
4	43020381	G	A	G43020381A	GRXCR1	NM_001080476.2(GRXCR1):c.655G>A:p.Glu219Lys	coding	Pathogenic
4	43030420	C	T	C43030420T	GRXCR1	NM_001080476.2(GRXCR1):c.753C>T:p.Ser251=	coding	Benign/Likely_benign
4	43030444	C	T	C43030444T	GRXCR1	NM_001080476.2(GRXCR1):c.777C>T:p.Ser259=	coding	Benign/Likely_benign
4	43030595	G	A	G43030595A	GRXCR1	NM_001080476.2(GRXCR1):c.*55G>A	noncoding	Benign
4	44680699	A	G	A44680699G	GUF1	NM_021927.3(GUF1):c.283A>G:p.Ile95Val	coding	Benign
4	44689319	A	G	A44689319G	GUF1	NM_021927.3(GUF1):c.1112A>G:p.Asn371Ser	coding	Benign
4	44690764	C	T	C44690764T	GUF1	NM_021927.3(GUF1):c.1383C>T:p.Pro461=	coding	Benign
4	44691693	A	G	A44691693G	GUF1	NM_021927.3(GUF1):c.1507A>G:p.Ile503Val	coding	Benign
4	44695724	G	T	G44695724T	GUF1	NM_021927.3(GUF1):c.1825G>T:p.Ala609Ser	coding	Pathogenic
4	44722112	G	A	G44722112A	GNPDA2	NM_138335.3(GNPDA2):c.96C>T:p.Asp32=	coding	Benign
4	46065519	G	A	G46065519A	GABRG1	NM_173536.4(GABRG1):c.387C>T:p.Thr129=	coding	Benign
4	46262010	G	T	G46262010T	GABRA2	NM_000807.4(GABRA2):c.975C>A:p.Phe325Leu	coding	Pathogenic
4	46262110	G	T	G46262110T	GABRA2	NM_000807.4(GABRA2):c.875C>A:p.Thr292Lys	coding	Pathogenic
4	46262114	G	C	G46262114C	GABRA2	NM_000807.4(GABRA2):c.871C>G:p.Leu291Val	coding	Pathogenic
4	46303528	A	G	A46303528G	GABRA2	NM_000807.4(GABRA2):c.788T>C:p.Met263Thr	coding	Pathogenic
4	46928459	G	A	G46928459A	GABRA4	NM_000809.4(GABRA4):c.1431C>T:p.His477=	coding	Benign
4	46965099	G	A	G46965099A	GABRA4	NM_000809.4(GABRA4):c.1005C>T:p.Ile335=	coding	Benign
4	46993370	C	T	C46993370T	GABRA4	NM_000809.4(GABRA4):c.55G>A:p.Ala19Thr	coding	Benign
4	47403563	G	A	G47403563A	GABRB1	NM_000812.4(GABRB1):c.687G>A:p.Ala229=	coding	Benign
4	47403613	T	C	T47403613C	GABRB1	NM_000812.4(GABRB1):c.737T>C:p.Phe246Ser	coding	Pathogenic
4	47403616	T	C	T47403616C	GABRB1	NM_000812.4(GABRB1):c.740T>C:p.Ile247Thr	coding	Pathogenic
4	47406833	C	T	C47406833T	GABRB1	NM_000812.4(GABRB1):c.987C>T:p.Tyr329=	coding	Benign
4	47406879	G	A	G47406879A	GABRB1	NM_000812.4(GABRB1):c.1033G>A:p.Asp345Asn	coding	Benign
4	47425829	G	A	G47425829A	GABRB1	NM_000812.4(GABRB1):c.1236G>A:p.Glu412=	coding	Benign
4	47425892	C	A	C47425892A	GABRB1	NM_000812.4(GABRB1):c.1299C>A:p.Ala433=	coding	Benign
4	47425922	G	A	G47425922A	GABRB1	NM_000812.4(GABRB1):c.1329G>A:p.Leu443=	coding	Benign
4	47523071	G	A	G47523071A	ATP10D	NM_020453.4(ATP10D):c.545G>A:p.Arg182His	coding	Benign
4	47603404	G	T	G47603404T	CORIN	NM_006587.4(CORIN):c.2805C>A:p.Gly935=	coding	Benign
4	47623736	C	T	C47623736T	CORIN	NM_006587.4(CORIN):c.2375G>A:p.Arg792His	coding	Benign
4	47626431	G	A	G47626431A	CORIN	NM_006587.4(CORIN):c.2289C>T:p.Thr763=	coding	Benign
4	47661743	T	G	T47661743G	CORIN	NM_006587.4(CORIN):c.1703A>C:p.Gln568Pro	coding	Benign
4	47661782	G	A	G47661782A	CORIN	NM_006587.4(CORIN):c.1664C>T:p.Thr555Ile	coding	Benign
4	47665207	T	C	T47665207C	CORIN	NM_006587.4(CORIN):c.1414A>G:p.Ser472Gly	coding	Pathogenic
4	47677984	A	G	A47677984G	CORIN	NM_006587.4(CORIN):c.1203T>C:p.Gly401=	coding	Benign
4	47677999	C	T	C47677999T	CORIN	NM_006587.4(CORIN):c.1188G>A:p.Thr396=	coding	Benign
4	47678064	A	G	A47678064G	CORIN	NM_006587.4(CORIN):c.1133-10T>C	noncoding	Benign
4	47683751	A	C	A47683751C	CORIN	NM_006587.4(CORIN):c.1001T>G:p.Leu334Trp	coding	Benign
4	47683803	T	C	T47683803C	CORIN	NM_006587.4(CORIN):c.949A>G:p.Lys317Glu	coding	Pathogenic
4	47763372	G	A	G47763372A	CORIN	NM_006587.4(CORIN):c.617+7C>T	noncoding	Benign
4	47936448	C	T	C47936448T	CNGA1	NM_000087.4(CNGA1):c.2046G>A:p.Ala682=	coding	Benign/Likely_benign
4	47936816	G	A	G47936816A	CNGA1	NM_001142564.1(CNGA1):c.1885C>T:p.Arg629Ter	coding	Pathogenic
4	47936862	G	A	G47936862A	CNGA1	NM_000087.4(CNGA1):c.1632C>T:p.Phe544=	coding	Benign
4	47936954	G	A	G47936954A	CNGA1	NM_000087.4(CNGA1):c.1540C>T:p.Arg514Ter	coding	Pathogenic/Likely_pathogenic
4	47937224	G	A	G47937224A	CNGA1	NM_001379270.1(CNGA1):c.1258C>T:p.Arg420Ter	coding	Pathogenic
4	47937340	C	G	C47937340G	CNGA1	NM_000087.4(CNGA1):c.1154G>C:p.Gly385Ala	coding	Pathogenic
4	47937361	A	G	A47937361G	CNGA1	NM_000087.4(CNGA1):c.1133T>C:p.Val378Ala	coding	Pathogenic
4	47937389	G	T	G47937389T	CNGA1	NM_000087.4(CNGA1):c.1105C>A:p.Pro369Thr	coding	Pathogenic
4	47937438	G	T	G47937438T	CNGA1	NM_000087.4(CNGA1):c.1056C>A:p.Ser352Arg	coding	Pathogenic
4	47937454	C	G	C47937454G	CNGA1	NM_000087.4(CNGA1):c.1040G>C:p.Arg347Thr	coding	Pathogenic
4	47937463	C	T	C47937463T	CNGA1	NM_000087.4(CNGA1):c.1031G>A:p.Arg344His	coding	Benign
4	47937535	G	A	G47937535A	CNGA1	NM_000087.4(CNGA1):c.959C>T:p.Ser320Phe	coding	Pathogenic/Likely_pathogenic
4	47940775	G	A	G47940775A	CNGA1	NM_000087.4(CNGA1):c.652C>T:p.Arg218Ter	coding	Pathogenic
4	47943203	T	A	T47943203A	CNGA1	NM_000087.4(CNGA1):c.427A>T:p.Lys143Ter	coding	Pathogenic
4	47943278	C	T	C47943278T	CNGA1	NM_000087.4(CNGA1):c.352G>A:p.Asp118Asn	coding	Benign
4	47949894	C	A	C47949894A	CNGA1	NM_000087.4(CNGA1):c.238G>T:p.Glu80Ter	coding	Pathogenic
4	47952608	G	A	G47952608A	CNGA1	NM_000087.4(CNGA1):c.94C>T:p.Arg32Ter	coding	Pathogenic
4	48382602	G	A	G48382602A	SLAIN2	NM_020846.2(SLAIN2):c.897G>A:p.Arg299=	coding	Benign
4	48542082	T	C	T48542082C	FRYL	NM_015030.2(FRYL):c.5632A>G:p.Ile1878Val	coding	Benign
4	48544779	A	G	A48544779G	FRYL	NM_015030.2(FRYL):c.5401+4T>C	noncoding	Benign
4	48546261	G	A	G48546261A	FRYL	NM_015030.2(FRYL):c.5085C>T:p.Asn1695=	coding	Benign
4	48563941	A	G	A48563941G	FRYL	NM_015030.2(FRYL):c.3596+7T>C	noncoding	Benign
4	48564007	C	T	C48564007T	FRYL	NM_015030.2(FRYL):c.3537G>A:p.Thr1179=	coding	Benign
4	48579072	T	C	T48579072C	FRYL	NM_015030.2(FRYL):c.2429A>G:p.Lys810Arg	coding	Benign
4	48581473	C	T	C48581473T	FRYL	NM_015030.2(FRYL):c.2119G>A:p.Val707Ile	coding	Benign
4	48581474	G	A	G48581474A	FRYL	NM_015030.2(FRYL):c.2118C>T:p.Ala706=	coding	Benign
4	48988665	A	G	A48988665G	CWH43	NM_025087.3(CWH43):c.232A>G:p.Ile78Val	coding	Benign
4	49032603	G	C	G49032603C	CWH43	NM_025087.3(CWH43):c.1546G>C:p.Glu516Gln	coding	Benign
4	49050705	C	T	C49050705T	CWH43	NM_025087.3(CWH43):c.1877C>T:p.Ala626Val	coding	Benign
4	52021860	A	C	A52021860C	SGCB	NM_000232.4(SGCB):c.*2097T>G	noncoding	Benign
4	52022333	G	A	G52022333A	SGCB	NM_000232.4(SGCB):c.*1624C>T	noncoding	Benign
4	52022391	A	G	A52022391G	SGCB	NM_000232.4(SGCB):c.*1566T>C	noncoding	Benign
4	52022578	A	G	A52022578G	SGCB	NM_000232.5(SGCB):c.*1379T>C	noncoding	Benign
4	52023436	T	A	T52023436A	SGCB	NM_000232.4(SGCB):c.*521A>T	noncoding	Benign
4	52028101	T	C	T52028101C	SGCB	NM_000232.4(SGCB):c.622-2A>G	noncoding	Pathogenic/Likely_pathogenic
4	52028729	C	A	C52028729A	SGCB	NM_000232.4(SGCB):c.621+1G>T	noncoding	Pathogenic/Likely_pathogenic
4	52028899	G	C	G52028899C	SGCB	NM_000232.4(SGCB):c.452C>G:p.Thr151Arg	coding	Pathogenic/Likely_pathogenic
4	52029485	T	G	T52029485G	SGCB	NM_000232.4(SGCB):c.429+193A>C	noncoding	Benign
4	52029716	G	A	G52029716A	SGCB	NM_000232.4(SGCB):c.391C>T:p.Arg131Ter	coding	Pathogenic
4	52029766	G	A	G52029766A	SGCB	NM_000232.4(SGCB):c.341C>T:p.Ser114Phe	coding	Pathogenic/Likely_pathogenic
4	52029784	A	C	A52029784C	SGCB	NM_000232.4(SGCB):c.323T>G:p.Leu108Arg	coding	Pathogenic
4	52029808	A	T	A52029808T	SGCB	NM_000232.4(SGCB):c.299T>A:p.Met100Lys	coding	Pathogenic/Likely_pathogenic
4	52029835	C	G	C52029835G	SGCB	NM_000232.4(SGCB):c.272G>C:p.Arg91Pro	coding	Pathogenic
4	52029836	G	A	G52029836A	SGCB	NM_000232.4(SGCB):c.271C>T:p.Arg91Cys	coding	Pathogenic/Likely_pathogenic
4	52029884	A	G	A52029884G	SGCB	NM_000232.4(SGCB):c.244-21T>C	noncoding	Benign
4	52033425	A	T	A52033425T	SGCB	NM_000232.4(SGCB):c.243+6T>A	noncoding	Benign/Likely_benign
4	52033542	G	C	G52033542C	SGCB	NM_000232.5(SGCB):c.132C>G:p.Tyr44Ter	coding	Pathogenic
4	52033582	C	A	C52033582A	SGCB	NM_000232.4(SGCB):c.92G>T:p.Ser31Ile	coding	Benign/Likely_benign
4	52037913	G	A	G52037913A	SGCB	NM_000232.4(SGCB):c.33+314C>T	noncoding	Benign
4	52038229	G	A	G52038229A	SGCB	NM_000232.4(SGCB):c.31C>T:p.Gln11Ter	coding	Pathogenic/Likely_pathogenic
4	52038232	C	A	C52038232A	SGCB	NM_000232.4(SGCB):c.28G>T:p.Glu10Ter	coding	Pathogenic
4	52038258	A	G	A52038258G	SGCB	NM_000232.5(SGCB):c.2T>C:p.Met1Thr	coding	Pathogenic
4	52038259	T	C	T52038259C	SGCB	NM_000232.4(SGCB):c.1A>G:p.Met1Val	coding	Pathogenic
4	52038284	C	T	C52038284T	SGCB	NM_000232.4(SGCB):c.-25G>A	noncoding	Benign/Likely_benign
4	52076895	A	G	A52076895G	SPATA18	NM_145263.4(SPATA18):c.875A>G:p.Lys292Arg	coding	Benign
4	52598664	G	A	G52598664A	USP46	NM_022832.4(USP46):c.963C>T:p.His321=	coding	Benign
4	52628116	G	A	G52628116A	USP46	NM_022832.4(USP46):c.165C>T:p.Phe55=	coding	Benign
4	53444114	T	G	T53444114G	FIP1L1	NM_030917.4(FIP1L1):c.1285+11T>G	noncoding	Benign
4	54100370	C	A	C54100370A	GSX2	NM_133267.3(GSX2):c.26C>A:p.Ser9Ter	coding	Pathogenic
4	54101759	A	G	A54101759G	GSX2	NM_133267.3(GSX2):c.752A>G:p.Gln251Arg	coding	Pathogenic
4	54229144	G	A	G54229144A	PDGFRA	NM_006206.5(PDGFRA):c.-284G>A	noncoding	Benign/Likely_benign
4	54229258	C	T	C54229258T	PDGFRA	NM_006206.5(PDGFRA):c.-170C>T	noncoding	Benign/Likely_benign
4	54261246	C	T	C54261246T	PDGFRA	NM_006206.6(PDGFRA):c.201C>T:p.Ser67=	coding	Benign/Likely_benign
4	54261276	C	T	C54261276T	PDGFRA	NM_006206.6(PDGFRA):c.231C>T:p.Asn77=	coding	Benign/Likely_benign
4	54261281	G	A	G54261281A	PDGFRA	NM_006206.6(PDGFRA):c.236G>A:p.Gly79Asp	coding	Benign/Likely_benign
4	54263664	C	T	C54263664T	PDGFRA	NM_006206.6(PDGFRA):c.368-3C>T	noncoding	Benign/Likely_benign
4	54263911	T	C	T54263911C	PDGFRA	NM_006206.6(PDGFRA):c.612T>C:p.Asn204=	coding	Benign
4	54264951	C	T	C54264951T	PDGFRA	NM_006206.6(PDGFRA):c.661C>T:p.Leu221Phe	coding	Benign/Likely_benign
4	54264962	G	A	G54264962A	PDGFRA	NM_006206.6(PDGFRA):c.672G>A:p.Val224=	coding	Benign
4	54267548	A	G	A54267548G	PDGFRA	NM_006206.6(PDGFRA):c.932-4A>G	noncoding	Benign
4	54267559	T	G	T54267559G	PDGFRA	NM_006206.6(PDGFRA):c.939T>G:p.Gly313=	coding	Benign
4	54267616	C	T	C54267616T	PDGFRA	NM_006206.6(PDGFRA):c.996C>T:p.Val332=	coding	Benign/Likely_benign
4	54267639	G	A	G54267639A	PDGFRA	NM_006206.6(PDGFRA):c.1019G>A:p.Arg340Gln	coding	Benign
4	54267769	C	T	C54267769T	PDGFRA	NM_006206.6(PDGFRA):c.1121+28C>T	noncoding	Benign
4	54270633	G	C	G54270633C	PDGFRA	NM_006206.6(PDGFRA):c.1122G>C:p.Arg374Ser	coding	Benign/Likely_benign
4	54272452	G	A	G54272452A	PDGFRA	NM_006206.6(PDGFRA):c.1296G>A:p.Thr432=	coding	Benign/Likely_benign
4	54272475	C	T	C54272475T	PDGFRA	NM_006206.6(PDGFRA):c.1319C>T:p.Thr440Met	coding	Benign/Likely_benign
4	54272476	G	A	G54272476A	PDGFRA	NM_006206.6(PDGFRA):c.1320G>A:p.Thr440=	coding	Benign
4	54273604	T	C	T54273604C	PDGFRA	NM_006206.6(PDGFRA):c.1432T>C:p.Ser478Pro	coding	Benign
4	54274616	T	C	T54274616C	PDGFRA	NM_006206.6(PDGFRA):c.1644T>C:p.Ile548=	coding	Benign
4	54274851	A	G	A54274851G	PDGFRA	NM_006206.6(PDGFRA):c.1664A>G:p.Tyr555Cys	coding	Pathogenic
4	54274869	T	A	T54274869A	PDGFRA	NM_006206.6(PDGFRA):c.1682T>A:p.Val561Asp	coding	Pathogenic
4	54274888	A	G	A54274888G	PDGFRA	NM_006206.6(PDGFRA):c.1701A>G:p.Pro567=	coding	Benign
4	54274918	G	A	G54274918A	PDGFRA	NM_006206.6(PDGFRA):c.1731G>A:p.Pro577=	coding	Benign
4	54277410	G	A	G54277410A	PDGFRA	NM_006206.6(PDGFRA):c.1809G>A:p.Ala603=	coding	Benign
4	54277492	C	T	C54277492T	PDGFRA	NM_006206.6(PDGFRA):c.1891C>T:p.Pro631Ser	coding	Benign/Likely_benign
4	54277981	C	A	C54277981A	PDGFRA	NM_006206.6(PDGFRA):c.1977C>A:p.Asn659Lys	coding	Pathogenic
4	54277981	C	G	C54277981G	PDGFRA	NM_006206.6(PDGFRA):c.1977C>G:p.Asn659Lys	coding	Pathogenic
4	54278380	C	T	C54278380T	PDGFRA	NM_006206.6(PDGFRA):c.2021C>T:p.Thr674Ile	coding	Pathogenic
4	54280364	G	A	G54280364A	PDGFRA	NM_006206.6(PDGFRA):c.2205G>A:p.Lys735=	coding	Benign/Likely_benign
4	54280389	C	T	C54280389T	PDGFRA	NM_006206.6(PDGFRA):c.2230C>T:p.Pro744Ser	coding	Benign/Likely_benign
4	54280441	T	G	T54280441G	PDGFRA	NM_006206.6(PDGFRA):c.2282T>G:p.Leu761Arg	coding	Benign
4	54285468	G	A	G54285468A	PDGFRA	NM_006206.6(PDGFRA):c.2421G>A:p.Glu807=	coding	Benign/Likely_benign
4	54285873	C	T	C54285873T	PDGFRA	NM_006206.6(PDGFRA):c.2472C>T:p.Val824=	coding	Benign
4	54285926	A	T	A54285926T	PDGFRA	NM_006206.6(PDGFRA):c.2525A>T:p.Asp842Val	coding	Pathogenic
4	54288815	C	T	C54288815T	PDGFRA	NM_006206.6(PDGFRA):c.2691C>T:p.Pro897=	coding	Benign/Likely_benign
4	54289012	C	T	C54289012T	PDGFRA	NM_006206.6(PDGFRA):c.2778C>T:p.Tyr926=	coding	Benign/Likely_benign
4	54289105	A	G	A54289105G	PDGFRA	NM_006206.6(PDGFRA):c.2871A>G:p.Gln957=	coding	Benign/Likely_benign
4	54290471	C	T	C54290471T	PDGFRA	NM_006206.6(PDGFRA):c.3039C>T:p.Ser1013=	coding	Benign/Likely_benign
4	54295087	C	T	C54295087T	PDGFRA	NM_006206.6(PDGFRA):c.3123-38C>T	noncoding	Benign
4	54295158	G	A	G54295158A	PDGFRA	NM_006206.6(PDGFRA):c.3156G>A:p.Thr1052=	coding	Benign/Likely_benign
4	54295224	T	C	T54295224C	PDGFRA	NM_006206.6(PDGFRA):c.3222T>C:p.Asp1074=	coding	Benign
4	54295230	C	G	C54295230G	PDGFRA	NM_006206.6(PDGFRA):c.3228C>G:p.Ile1076Met	coding	Benign/Likely_benign
4	54295230	C	T	C54295230T	PDGFRA	NM_006206.6(PDGFRA):c.3228C>T:p.Ile1076=	coding	Benign/Likely_benign
4	54295323	G	A	G54295323A	PDGFRA	NM_006206.6(PDGFRA):c.*51G>A	noncoding	Benign
4	54295350	A	G	A54295350G	PDGFRA	NM_006206.6(PDGFRA):c.*78A>G	noncoding	Benign
4	54295646	A	C	A54295646C	PDGFRA	NM_006206.6(PDGFRA):c.*374A>C	noncoding	Benign
4	54295751	C	A	C54295751A	PDGFRA	NM_006206.6(PDGFRA):c.*479C>A	noncoding	Benign
4	54295963	G	A	G54295963A	PDGFRA	NM_006206.6(PDGFRA):c.*691G>A	noncoding	Benign
4	54296065	C	T	C54296065T	PDGFRA	NM_006206.6(PDGFRA):c.*793C>T	noncoding	Benign/Likely_benign
4	54296104	T	C	T54296104C	PDGFRA	NM_006206.6(PDGFRA):c.*832T>C	noncoding	Benign
4	54296409	G	A	G54296409A	PDGFRA	NM_006206.6(PDGFRA):c.*1137G>A	noncoding	Benign
4	54296701	C	T	C54296701T	PDGFRA	NM_006206.6(PDGFRA):c.*1429C>T	noncoding	Benign
4	54296783	C	A	C54296783A	PDGFRA	NM_006206.6(PDGFRA):c.*1511C>A	noncoding	Benign
4	54296833	T	C	T54296833C	PDGFRA	NM_006206.6(PDGFRA):c.*1561T>C	noncoding	Benign/Likely_benign
4	54297211	T	C	T54297211C	PDGFRA	NM_006206.6(PDGFRA):c.*1939T>C	noncoding	Benign
4	54297528	G	T	G54297528T	PDGFRA	NM_006206.6(PDGFRA):c.*2256G>T	noncoding	Benign/Likely_benign
4	54297659	T	G	T54297659G	PDGFRA	NM_006206.6(PDGFRA):c.*2387T>G	noncoding	Benign
4	54297737	A	G	A54297737G	PDGFRA	NM_006206.6(PDGFRA):c.*2465A>G	noncoding	Benign/Likely_benign
4	54297776	C	T	C54297776T	PDGFRA	NM_006206.6(PDGFRA):c.*2504C>T	noncoding	Benign/Likely_benign
4	54297810	G	A	G54297810A	PDGFRA	NM_006206.6(PDGFRA):c.*2538G>A	noncoding	Benign/Likely_benign
4	54297818	A	G	A54297818G	PDGFRA	NM_006206.6(PDGFRA):c.*2546A>G	noncoding	Benign/Likely_benign
4	54297831	G	A	G54297831A	PDGFRA	NM_006206.6(PDGFRA):c.*2559G>A	noncoding	Benign
4	54298145	C	T	C54298145T	PDGFRA	NM_006206.6(PDGFRA):c.*2873C>T	noncoding	Benign/Likely_benign
4	54657994	G	T	G54657994T	KIT	NM_000222.3(KIT):c.-21G>T	noncoding	Benign/Likely_benign
4	54658001	T	A	T54658001A	KIT	NM_000222.2(KIT):c.-14T>A	noncoding	Benign/Likely_benign
4	54658085	G	A	G54658085A	KIT	NM_000222.2(KIT):c.67+4G>A	noncoding	Benign/Likely_benign
4	54695567	A	T	A54695567T	KIT	NM_000222.2(KIT):c.123A>T:p.Pro41=	coding	Benign/Likely_benign
4	54695695	C	T	C54695695T	KIT	NM_000222.2(KIT):c.251C>T:p.Thr84Met	coding	Benign/Likely_benign
4	54695696	G	T	G54695696T	KIT	NM_000222.2(KIT):c.252G>T:p.Thr84=	coding	Benign/Likely_benign
4	54698318	G	A	G54698318A	KIT	NM_000222.2(KIT):c.372G>A:p.Leu124=	coding	Benign
4	54698514	C	T	C54698514T	KIT	NM_000222.3(KIT):c.568C>T:p.Gln190Ter	coding	Pathogenic
4	54699745	G	A	G54699745A	KIT	NM_000222.2(KIT):c.735G>A:p.Thr245=	coding	Benign/Likely_benign
4	54703901	C	T	C54703901T	KIT	NM_000222.2(KIT):c.925+9C>T	noncoding	Benign
4	54709427	C	T	C54709427T	KIT	NM_000222.2(KIT):c.1119C>T:p.Tyr373=	coding	Benign/Likely_benign
4	54709428	G	A	G54709428A	KIT	NM_000222.2(KIT):c.1120G>A:p.Val374Ile	coding	Benign/Likely_benign
4	54709445	A	G	A54709445G	KIT	NM_000222.2(KIT):c.1137A>G:p.Leu379=	coding	Benign/Likely_benign
4	54709507	A	G	A54709507G	KIT	NM_000222.2(KIT):c.1199A>G:p.Asn400Ser	coding	Benign
4	54723642	A	G	A54723642G	KIT	NM_000222.2(KIT):c.1290A>G:p.Ala430=	coding	Benign/Likely_benign
4	54725893	A	G	A54725893G	KIT	NM_000222.2(KIT):c.1383A>G:p.Thr461=	coding	Benign/Likely_benign
4	54725978	G	A	G54725978A	KIT	NM_000222.2(KIT):c.1468G>A:p.Glu490Lys	coding	Pathogenic
4	54726020	T	C	T54726020C	KIT	NM_000222.2(KIT):c.1510T>C:p.Phe504Leu	coding	Pathogenic
4	54726036	A	T	A54726036T	KIT	NM_000222.2(KIT):c.1526A>T:p.Lys509Ile	coding	Pathogenic
4	54727275	C	A	C54727275A	KIT	NM_000222.2(KIT):c.1598C>A:p.Ala533Asp	coding	Pathogenic
4	54727298	A	C	A54727298C	KIT	NM_000222.3(KIT):c.1621A>C	coding	Benign/Likely_benign
4	54727315	A	G	A54727315G	KIT	NM_000222.2(KIT):c.1638A>G:p.Lys546=	coding	Benign
4	54727418	A	C	A54727418C	KIT	NM_000222.2(KIT):c.1650A>C:p.Lys550Asn	coding	Pathogenic
4	54727418	A	T	A54727418T	KIT	NM_000222.2(KIT):c.1650A>T:p.Lys550Asn	coding	Pathogenic
4	54727425	T	A	T54727425A	KIT	NM_000222.2(KIT):c.1657T>A:p.Tyr553Asn	coding	Pathogenic
4	54727437	T	A	T54727437A	KIT	NM_000222.2(KIT):c.1669T>A:p.Trp557Arg	coding	Pathogenic/Likely_pathogenic
4	54727438	G	A	G54727438A	KIT	NM_000222.2(KIT):c.1670G>A:p.Trp557Ter	coding	Pathogenic
4	54727442	G	C	G54727442C	KIT	NM_000222.2(KIT):c.1674G>C:p.Lys558Asn	coding	Pathogenic
4	54727442	G	T	G54727442T	KIT	NM_000222.2(KIT):c.1674G>T:p.Lys558Asn	coding	Pathogenic/Likely_pathogenic
4	54727444	T	A	T54727444A	KIT	NM_000222.2(KIT):c.1676T>A:p.Val559Asp	coding	Pathogenic/Likely_pathogenic
4	54727444	T	C	T54727444C	KIT	NM_000222.2(KIT):c.1676T>C:p.Val559Ala	coding	Pathogenic/Likely_pathogenic
4	54727444	T	G	T54727444G	KIT	NM_000222.2(KIT):c.1676T>G:p.Val559Gly	coding	Pathogenic/Likely_pathogenic
4	54727447	T	A	T54727447A	KIT	NM_000222.2(KIT):c.1679T>A:p.Val560Asp	coding	Pathogenic/Likely_pathogenic
4	54727447	T	C	T54727447C	KIT	NM_000222.2(KIT):c.1679T>C:p.Val560Ala	coding	Pathogenic
4	54727447	T	G	T54727447G	KIT	NM_000222.2(KIT):c.1679T>G:p.Val560Gly	coding	Pathogenic/Likely_pathogenic
4	54727464	A	G	A54727464G	KIT	NM_000222.2(KIT):c.1696A>G:p.Asn566Asp	coding	Pathogenic
4	54727474	T	G	T54727474G	KIT	NM_000222.2(KIT):c.1706T>G:p.Val569Gly	coding	Pathogenic
4	54727515	G	A	G54727515A	KIT	NM_000222.2(KIT):c.1747G>A:p.Glu583Lys	coding	Pathogenic
4	54727519	T	G	T54727519G	KIT	NM_000222.2(KIT):c.1751T>G:p.Phe584Cys	coding	Pathogenic
4	54727520	T	G	T54727520G	KIT	NM_000222.2(KIT):c.1752T>G:p.Phe584Leu	coding	Pathogenic
4	54727842	A	T	A54727842T	KIT	NM_000222.2(KIT):c.1794A>T:p.Gly598=	coding	Benign/Likely_benign
4	54727907	T	C	T54727907C	KIT	NM_000222.2(KIT):c.1859T>C:p.Val620Ala	coding	Pathogenic
4	54727928	G	A	G54727928A	KIT	NM_000222.2(KIT):c.1879+1G>A	coding	Pathogenic
4	54728055	A	G	A54728055G	KIT	NM_000222.2(KIT):c.1924A>G:p.Lys642Glu	coding	Pathogenic/Likely_pathogenic
4	54728092	T	C	T54728092C	KIT	NM_000222.2(KIT):c.1961T>C:p.Val654Ala	coding	Pathogenic/Likely_pathogenic
4	54728121	G	A	G54728121A	KIT	NM_000222.2(KIT):c.1990G>A:p.Gly664Arg	coding	Pathogenic
4	54731292	A	G	A54731292G	KIT	NM_000222.2(KIT):c.2142-36A>G	noncoding	Benign
4	54731863	C	T	C54731863T	KIT	NM_000222.2(KIT):c.2234-8C>T	noncoding	Benign
4	54731899	C	T	C54731899T	KIT	NM_000222.2(KIT):c.2262C>T:p.Pro754=	coding	Benign/Likely_benign
4	54731998	T	C	T54731998C	KIT	NM_000222.2(KIT):c.2361T>C:p.Asn787=	coding	Benign
4	54733094	A	G	A54733094G	KIT	NM_000222.2(KIT):c.2386A>G:p.Arg796Gly	coding	Pathogenic
4	54733102	C	T	C54733102T	KIT	NM_000222.2(KIT):c.2394C>T:p.Ile798=	coding	Benign/Likely_benign
4	54733154	G	C	G54733154C	KIT	NM_000222.2(KIT):c.2446G>C:p.Asp816His	coding	Pathogenic
4	54733154	G	T	G54733154T	KIT	NM_000222.2(KIT):c.2446G>T:p.Asp816Tyr	coding	Pathogenic/Likely_pathogenic
4	54733166	G	C	G54733166C	KIT	NM_000222.2(KIT):c.2458G>C:p.Asp820His	coding	Pathogenic
4	54733166	G	T	G54733166T	KIT	NM_000222.2(KIT):c.2458G>T:p.Asp820Tyr	coding	Pathogenic
4	54733167	A	G	A54733167G	KIT	NM_000222.2(KIT):c.2459A>G:p.Asp820Gly	coding	Pathogenic
4	54733168	T	A	T54733168A	KIT	NM_000222.2(KIT):c.2460T>A:p.Asp820Glu	coding	Pathogenic
4	54733173	A	T	A54733173T	KIT	NM_000222.2(KIT):c.2465A>T:p.Asn822Ile	coding	Pathogenic/Likely_pathogenic
4	54733174	T	G	T54733174G	KIT	NM_000222.2(KIT):c.2466T>G:p.Asn822Lys	coding	Pathogenic/Likely_pathogenic
4	54736498	G	C	G54736498C	KIT	NM_000222.2(KIT):c.2485G>C:p.Ala829Pro	coding	Pathogenic/Likely_pathogenic
4	54736528	G	A	G54736528A	KIT	NM_000222.2(KIT):c.2515G>A:p.Glu839Lys	coding	Pathogenic/Likely_pathogenic
4	54736552	A	C	A54736552C	KIT	NM_000222.2(KIT):c.2539A>C:p.Thr847Pro	coding	Pathogenic
4	54736599	G	C	G54736599C	KIT	NM_000222.2(KIT):c.2586G>C:p.Leu862=	coding	Benign/Likely_benign
4	54738431	T	A	T54738431A	KIT	NM_000222.2(KIT):c.2805T>A:p.Ile935=	coding	Benign/Likely_benign
4	54738473	C	T	C54738473T	KIT	NM_000222.2(KIT):c.2847C>T:p.Pro949=	coding	Benign
4	54738623	T	G	T54738623G	KIT	NM_000222.3(KIT):c.*66T>G	noncoding	Benign/Likely_benign
4	54738706	C	T	C54738706T	KIT	NM_000222.2(KIT):c.*149C>T	noncoding	Benign
4	54738909	A	G	A54738909G	KIT	NM_000222.2(KIT):c.*352A>G	noncoding	Benign/Likely_benign
4	54739347	A	G	A54739347G	KIT	NM_000222.2(KIT):c.*790A>G	noncoding	Benign/Likely_benign
4	54739445	T	C	T54739445C	KIT	NM_000222.3(KIT):c.*888T>C	noncoding	Benign/Likely_benign
4	54739777	C	T	C54739777T	KIT	NM_000222.3(KIT):c.*1220C>T	noncoding	Benign/Likely_benign
4	54739798	G	A	G54739798A	KIT	NM_000222.2(KIT):c.*1241G>A	noncoding	Benign/Likely_benign
4	54740081	A	G	A54740081G	KIT	NM_000222.2(KIT):c.*1524A>G	noncoding	Benign/Likely_benign
4	54740261	G	T	G54740261T	KIT	NM_000222.2(KIT):c.*1704G>T	noncoding	Benign
4	54740348	G	A	G54740348A	KIT	NM_000222.2(KIT):c.*1791G>A	noncoding	Benign/Likely_benign
4	54740574	T	C	T54740574C	KIT	NM_000222.3(KIT):c.*2017T>C	noncoding	Benign/Likely_benign
4	55081941	A	G	A55081941G	KDR	NM_002253.3(KDR):c.3848+15T>C	noncoding	Benign
4	55088939	G	A	G55088939A	KDR	NM_002253.3(KDR):c.3439C>T:p.Pro1147Ser	coding	Pathogenic
4	55090016	G	T	G55090016T	KDR	NM_002253.3(KDR):c.3132C>A:p.Ile1044=	coding	Benign
4	55090058	C	T	C55090058T	KDR	NM_002253.3(KDR):c.3090G>A:p.Ala1030=	coding	Benign
4	55102430	G	A	G55102430A	KDR	NM_002253.3(KDR):c.2066C>T:p.Thr689Met	coding	Benign
4	55104796	A	G	A55104796G	KDR	NM_002253.3(KDR):c.1834T>C:p.Leu612=	coding	Benign
4	55105839	G	A	G55105839A	KDR	NM_002253.3(KDR):c.1638C>T:p.His546=	coding	Benign
4	55105881	C	T	C55105881T	KDR	NM_002253.3(KDR):c.1596G>A:p.Ala532=	coding	Benign
4	55105902	T	C	T55105902C	KDR	NM_002253.3(KDR):c.1575A>G:p.Ser525=	coding	Benign
4	55107765	A	C	A55107765C	KDR	NM_002253.3(KDR):c.1384T>G:p.Leu462Val	coding	Benign
4	55107903	G	A	G55107903A	KDR	NM_002253.3(KDR):c.1256-10C>T	noncoding	Benign
4	55110542	C	G	C55110542G	KDR	NM_002253.3(KDR):c.1116G>C:p.Glu372Asp	coding	Benign
4	55110572	A	G	A55110572G	KDR	NM_002253.3(KDR):c.1092-6T>C	noncoding	Benign
4	55110690	G	A	G55110690A	KDR	NM_002253.3(KDR):c.1055C>T:p.Ala352Val	coding	Benign
4	55110716	C	T	C55110716T	KDR	NM_002253.3(KDR):c.1029G>A:p.Thr343=	coding	Benign
4	55113443	G	A	G55113443A	KDR	NM_002253.3(KDR):c.837C>T:p.Thr279=	coding	Benign
4	55115364	C	T	C55115364T	KDR	NM_002253.3(KDR):c.406G>A:p.Val136Met	coding	Benign
4	55118758	A	G	A55118758G	KDR	NM_002253.3(KDR):c.204T>C:p.Ser68=	coding	Benign
4	55346297	G	A	G55346297A	SRD5A3	NM_024592.5(SRD5A3):c.-40G>A	noncoding	Benign
4	55346365	C	A	C55346365A	SRD5A3	NM_024592.5(SRD5A3):c.29C>A:p.Ser10Ter	coding	Pathogenic
4	55346393	G	A	G55346393A	SRD5A3	NM_024592.5(SRD5A3):c.57G>A:p.Trp19Ter	coding	Pathogenic
4	55359444	G	A	G55359444A	SRD5A3	NM_024592.5(SRD5A3):c.320G>A:p.Trp107Ter	coding	Pathogenic
4	55359488	G	T	G55359488T	SRD5A3	NM_024592.5(SRD5A3):c.364G>T:p.Gly122Ter	coding	Pathogenic
4	55364133	C	T	C55364133T	SRD5A3	NM_024592.5(SRD5A3):c.424C>T:p.Arg142Ter	coding	Pathogenic
4	55364198	C	A	C55364198A	SRD5A3	NM_024592.5(SRD5A3):c.489C>A:p.Tyr163Ter	coding	Pathogenic
4	55369764	C	G	C55369764G	SRD5A3	NM_024592.5(SRD5A3):c.698-68C>G	noncoding	Benign
4	55370059	C	G	C55370059G	SRD5A3	NM_024592.5(SRD5A3):c.925C>G:p.His309Asp	coding	Benign/Likely_benign
4	55370161	C	T	C55370161T	SRD5A3	NM_024592.5(SRD5A3):c.*70C>T	noncoding	Benign
4	55370412	C	T	C55370412T	SRD5A3	NM_024592.5(SRD5A3):c.*321C>T	noncoding	Benign
4	55370970	C	T	C55370970T	SRD5A3	NM_024592.5(SRD5A3):c.*879C>T	noncoding	Benign
4	55371059	C	T	C55371059T	SRD5A3	NM_024592.5(SRD5A3):c.*968C>T	noncoding	Benign
4	55371160	G	A	G55371160A	SRD5A3	NM_024592.5(SRD5A3):c.*1069G>A	noncoding	Benign
4	55371692	G	A	G55371692A	SRD5A3	NM_024592.5(SRD5A3):c.*1601G>A	noncoding	Benign
4	55371797	G	A	G55371797A	SRD5A3	NM_024592.5(SRD5A3):c.*1706G>A	noncoding	Benign
4	55372096	T	C	T55372096C	SRD5A3	NM_024592.5(SRD5A3):c.*2005T>C	noncoding	Benign
4	55372154	G	A	G55372154A	SRD5A3	NM_024592.5(SRD5A3):c.*2063G>A	noncoding	Benign
4	55372459	G	A	G55372459A	SRD5A3	NM_024592.5(SRD5A3):c.*2368G>A	noncoding	Benign
4	55372680	G	A	G55372680A	SRD5A3	NM_024592.5(SRD5A3):c.*2589G>A	noncoding	Benign
4	55396043	T	C	T55396043C	TMEM165	NM_018475.5(TMEM165):c.-147T>C	noncoding	Benign
4	55396207	A	G	A55396207G	TMEM165	NM_018475.5(TMEM165):c.18A>G:p.Pro6=	coding	Benign
4	55411783	G	A	G55411783A	TMEM165	NM_018475.5(TMEM165):c.377G>A:p.Arg126His	coding	Pathogenic
4	55418167	G	A	G55418167A	TMEM165	NM_018475.5(TMEM165):c.792+182G>A	noncoding	Pathogenic
4	55425361	T	C	T55425361C	TMEM165	NM_018475.5(TMEM165):c.899-15T>C	noncoding	Benign
4	55425387	G	A	G55425387A	TMEM165	NM_018475.5(TMEM165):c.910G>A:p.Gly304Arg	coding	Pathogenic
4	55425398	T	G	T55425398G	TMEM165	NM_018475.5(TMEM165):c.921T>G:p.Val307=	coding	Benign
4	55425957	T	A	T55425957A	TMEM165	NM_018475.5(TMEM165):c.*505T>A	noncoding	Benign
4	55453044	A	G	A55453044G	CLOCK	NM_004898.4(CLOCK):c.1206+10T>C	noncoding	Benign
4	55458985	A	G	A55458985G	CLOCK	NM_004898.4(CLOCK):c.699T>C:p.Phe233=	coding	Benign
4	55459020	T	C	T55459020C	CLOCK	NM_004898.4(CLOCK):c.674-10A>G	noncoding	Benign
4	55479645	C	T	C55479645T	CLOCK	NM_004898.4(CLOCK):c.102G>A:p.Ala34=	coding	Benign
4	55953268	C	T	C55953268T	CEP135	NM_025009.5(CEP135):c.297C>T:p.His99=	coding	Benign
4	55954246	G	A	G55954246A	CEP135	NM_025009.5(CEP135):c.335G>A:p.Arg112His	coding	Benign
4	55959705	T	C	T55959705C	CEP135	NM_025009.5(CEP135):c.638T>C:p.Val213Ala	coding	Benign/Likely_benign
4	55965689	C	T	C55965689T	CEP135	NM_025009.5(CEP135):c.874C>T:p.Arg292Ter	coding	Pathogenic
4	55971379	G	A	G55971379A	CEP135	NM_025009.5(CEP135):c.1220G>A:p.Ser407Asn	coding	Benign
4	55974750	A	G	A55974750G	CEP135	NM_025009.5(CEP135):c.1254A>G:p.Arg418=	coding	Benign/Likely_benign
4	55974855	A	G	A55974855G	CEP135	NM_025009.5(CEP135):c.1359A>G:p.Glu453=	coding	Benign
4	55974970	G	A	G55974970A	CEP135	NM_025009.5(CEP135):c.1473+1G>A	coding	Pathogenic
4	55981275	G	A	G55981275A	CEP135	NM_025009.5(CEP135):c.1675G>A:p.Ala559Thr	coding	Benign
4	56008351	A	C	A56008351C	CEP135	NM_025009.5(CEP135):c.2305A>C:p.Ile769Leu	coding	Benign
4	56011500	G	A	G56011500A	CEP135	NM_025009.5(CEP135):c.2594G>A:p.Trp865Ter	coding	Pathogenic
4	56011905	C	T	C56011905T	CEP135	NM_025009.5(CEP135):c.2722C>T:p.Arg908Ter	coding	Pathogenic
4	56011907	A	G	A56011907G	CEP135	NM_025009.5(CEP135):c.2724A>G:p.Arg908=	coding	Benign
4	56011938	A	C	A56011938C	CEP135	NM_025009.5(CEP135):c.2755A>C:p.Arg919=	coding	Benign/Likely_benign
4	56467654	G	T	G56467654T	SRP72	NM_006947.4(SRP72):c.19G>T:p.Gly7Trp	coding	Benign
4	56467655	G	A	G56467655A	SRP72	NM_006947.4(SRP72):c.20G>A:p.Gly7Glu	coding	Benign
4	56467655	G	C	G56467655C	SRP72	NM_006947.4(SRP72):c.20G>C:p.Gly7Ala	coding	Benign/Likely_benign
4	56467656	G	T	G56467656T	SRP72	NM_006947.4(SRP72):c.21G>T:p.Gly7=	coding	Benign
4	56467658	G	A	G56467658A	SRP72	NM_006947.4(SRP72):c.23G>A:p.Gly8Glu	coding	Benign
4	56467672	G	T	G56467672T	SRP72	NM_006947.4(SRP72):c.37G>T:p.Ala13Ser	coding	Benign
4	56467693	C	T	C56467693T	SRP72	NM_006947.4(SRP72):c.58C>T:p.Arg20Trp	coding	Benign/Likely_benign
4	56469648	T	G	T56469648G	SRP72	NM_006947.4(SRP72):c.110-5T>G	noncoding	Benign
4	56469676	G	A	G56469676A	SRP72	NM_006947.4(SRP72):c.133G>A:p.Val45Ile	coding	Benign
4	56469687	G	T	G56469687T	SRP72	NM_006947.4(SRP72):c.144G>T:p.Leu48=	coding	Benign
4	56471783	G	A	G56471783A	SRP72	NM_006947.4(SRP72):c.294G>A:p.Leu98=	coding	Benign
4	56474105	G	A	G56474105A	SRP72	NM_006947.4(SRP72):c.406G>A:p.Val136Ile	coding	Benign
4	56476680	G	A	G56476680A	SRP72	NM_006947.4(SRP72):c.620G>A:p.Arg207His	coding	Pathogenic
4	56478422	A	G	A56478422G	SRP72	NM_006947.4(SRP72):c.686A>G:p.His229Arg	coding	Benign
4	56478613	A	G	A56478613G	SRP72	NM_006947.4(SRP72):c.789A>G:p.Leu263=	coding	Benign
4	56490392	T	C	T56490392C	SRP72	NM_006947.4(SRP72):c.1380T>C:p.Tyr460=	coding	Benign
4	56490422	A	G	A56490422G	SRP72	NM_006947.4(SRP72):c.1410A>G:p.Leu470=	coding	Benign
4	56490564	T	C	T56490564C	SRP72	NM_006947.4(SRP72):c.1425-4T>C	noncoding	Benign
4	56491517	T	C	T56491517C	SRP72	NM_006947.4(SRP72):c.1589T>C:p.Ile530Thr	coding	Benign
4	56495366	T	C	T56495366C	SRP72	NM_006947.4(SRP72):c.1650T>C:p.Asp550=	coding	Benign
4	56495387	A	G	A56495387G	SRP72	NM_006947.4(SRP72):c.1671A>G:p.Lys557=	coding	Benign
4	56500561	A	G	A56500561G	SRP72	NM_006947.4(SRP72):c.1704A>G:p.Pro568=	coding	Benign
4	56500660	G	A	G56500660A	SRP72	NM_006947.4(SRP72):c.1803G>A:p.Gly601=	coding	Benign/Likely_benign
4	56501849	A	G	A56501849G	SRP72	NM_006947.4(SRP72):c.2004A>G:p.Lys668=	coding	Benign/Likely_benign
4	56501885	G	A	G56501885A	SRP72	NM_006947.4(SRP72):c.*24G>A	noncoding	Benign
4	56502000	G	A	G56502000A	SRP72	NM_006947.4(SRP72):c.*139G>A	noncoding	Benign
4	56502034	T	C	T56502034C	SRP72	NM_006947.4(SRP72):c.*173T>C	noncoding	Benign
4	56502247	G	A	G56502247A	SRP72	NM_006947.4(SRP72):c.*386G>A	noncoding	Benign
4	56502303	A	G	A56502303G	SRP72	NM_006947.4(SRP72):c.*442A>G	noncoding	Benign
4	56502419	T	C	T56502419C	SRP72	NM_006947.4(SRP72):c.*558T>C	noncoding	Benign
4	56502593	A	G	A56502593G	SRP72	NM_006947.4(SRP72):c.*732A>G	noncoding	Benign
4	56502641	C	T	C56502641T	SRP72	NM_006947.4(SRP72):c.*780C>T	noncoding	Benign
4	56502833	G	A	G56502833A	SRP72	NM_006947.4(SRP72):c.*972G>A	noncoding	Benign
4	56503174	C	G	C56503174G	SRP72	NM_006947.4(SRP72):c.*1313C>G	noncoding	Benign
4	56503464	A	G	A56503464G	SRP72	NM_006947.4(SRP72):c.*1603A>G	noncoding	Benign
4	56648732	G	A	G56648732A	HOPX	NM_032495.6(HOPX):c.264C>T:p.Ser88=	coding	Benign
4	56655968	C	T	C56655968T	HOPX	NM_032495.6(HOPX):c.87G>A:p.Glu29=	coding	Benign
4	56820582	G	C	G56820582C	SPINK2	NM_001271718.2(SPINK2):c.206-3C>G	noncoding	Pathogenic
4	56910912	G	A	G56910912A	REST	NM_005612.5(REST):c.274G>A:p.Gly92Arg	coding	Benign
4	56911005	C	G	C56911005G	REST	NM_005612.5(REST):c.367C>G:p.Pro123Ala	coding	Benign
4	56911256	A	C	A56911256C	REST	NM_005612.5(REST):c.618A>C:p.Ala206=	coding	Benign
4	56930473	T	C	T56930473C	REST	NM_005612.5(REST):c.1615T>C:p.Ser539Pro	coding	Benign
4	56930804	A	G	A56930804G	REST	NM_005612.5(REST):c.1946A>G:p.Asp649Gly	coding	Benign
4	56930854	C	T	C56930854T	REST	NM_005612.5(REST):c.1996C>T:p.Leu666=	coding	Benign
4	56931064	C	T	C56931064T	REST	NM_005612.5(REST):c.2206C>T:p.Pro736Ser	coding	Benign
4	56931085	G	T	G56931085T	REST	NM_005612.5(REST):c.2227G>T:p.Glu743Ter	coding	Pathogenic
4	56931189	T	G	T56931189G	REST	NM_005612.5(REST):c.2331T>G:p.Val777=	coding	Benign
4	56931414	G	A	G56931414A	REST	NM_005612.5(REST):c.2556G>A:p.Lys852=	coding	Benign
4	56931415	G	C	G56931415C	REST	NM_005612.5(REST):c.2557G>C:p.Glu853Gln	coding	Benign
4	56973253	A	G	A56973253G	NOA1	NM_032313.4(NOA1):c.1410T>C:p.Pro470=	coding	Benign
4	56977566	G	T	G56977566T	NOA1	NM_032313.4(NOA1):c.20C>A:p.Pro7Gln	coding	Benign
4	57031337	C	T	C57031337T	IGFBP7	NM_001553.3(IGFBP7):c.830-1G>A	coding	Pathogenic
4	57032562	A	G	A57032562G	IGFBP7	NM_001553.3(IGFBP7):c.703-10T>C	noncoding	Benign
4	57040848	C	T	C57040848T	IGFBP7	NM_001553.3(IGFBP7):c.561G>A:p.Pro187=	coding	Benign
4	64281471	T	C	T64281471C	TECRL	NM_001010874.5(TECRL):c.918+3A>G	noncoding	Pathogenic
4	64328511	C	T	C64328511T	TECRL	NM_001010874.5(TECRL):c.331+1G>A	noncoding	Pathogenic
4	65353038	C	T	C65353038T	EPHA5	NM_004439.8(EPHA5):c.2298+4G>A	noncoding	Benign
4	65365009	A	T	A65365009T	EPHA5	NM_004439.8(EPHA5):c.2236+8T>A	noncoding	Benign
4	65365981	A	G	A65365981G	EPHA5	NM_004439.8(EPHA5):c.2001T>C:p.Ala667=	coding	Benign
4	65414389	C	G	C65414389G	EPHA5	NM_004439.8(EPHA5):c.1582G>C:p.Glu528Gln	coding	Benign
4	65602014	G	A	G65602014A	EPHA5	NM_004439.8(EPHA5):c.537C>T:p.Ala179=	coding	Benign
4	67737817	C	A	C67737817A	GNRHR	NM_000406.3(GNRHR):c.*2663G>T	noncoding	Benign
4	67737984	C	T	C67737984T	GNRHR	NM_000406.3(GNRHR):c.*2496G>A	noncoding	Benign
4	67738314	C	T	C67738314T	GNRHR	NM_000406.3(GNRHR):c.*2166G>A	noncoding	Benign
4	67738425	C	T	C67738425T	GNRHR	NM_000406.3(GNRHR):c.*2055G>A	noncoding	Benign
4	67738589	A	C	A67738589C	GNRHR	NM_000406.3(GNRHR):c.*1891T>G	noncoding	Benign
4	67739220	C	A	C67739220A	GNRHR	NM_000406.3(GNRHR):c.*1260G>T	noncoding	Benign
4	67739651	A	G	A67739651G	GNRHR	NM_000406.3(GNRHR):c.*829T>C	noncoding	Benign
4	67739671	G	A	G67739671A	GNRHR	NM_000406.3(GNRHR):c.*809C>T	noncoding	Benign
4	67739678	C	G	C67739678G	GNRHR	NM_000406.3(GNRHR):c.*802G>C	noncoding	Benign
4	67739897	T	C	T67739897C	GNRHR	NM_000406.3(GNRHR):c.*583A>G	noncoding	Benign
4	67740486	A	G	A67740486G	GNRHR	NM_000406.3(GNRHR):c.981T>C:p.Ser327=	coding	Benign
4	67740508	G	A	G67740508A	GNRHR	NM_000406.3(GNRHR):c.959C>T:p.Pro320Leu	coding	Pathogenic
4	67740526	A	T	A67740526T	GNRHR	NM_000406.3(GNRHR):c.941T>A:p.Leu314Ter	coding	Pathogenic
4	67740616	T	C	T67740616C	GNRHR	NM_000406.3(GNRHR):c.851A>G:p.Tyr284Cys	coding	Pathogenic
4	67740625	G	A	G67740625A	GNRHR	NM_000406.3(GNRHR):c.842C>T:p.Thr281Ile	coding	Pathogenic
4	67740661	G	A	G67740661A	GNRHR	NM_000406.3(GNRHR):c.806C>T:p.Thr269Met	coding	Pathogenic
4	67740682	C	T	C67740682T	GNRHR	NM_000406.3(GNRHR):c.785G>A:p.Arg262Gln	coding	Pathogenic
4	67744659	G	T	G67744659T	GNRHR	NM_000406.3(GNRHR):c.651C>A:p.Ser217Arg	coding	Pathogenic
4	67744677	A	T	A67744677T	GNRHR	NM_000406.3(GNRHR):c.633T>A:p.Tyr211Ter	coding	Pathogenic
4	67744788	C	T	C67744788T	GNRHR	NM_000406.3(GNRHR):c.523-1G>A	coding	Pathogenic
4	67753825	C	T	C67753825T	GNRHR	NM_000406.3(GNRHR):c.511G>A:p.Ala171Thr	coding	Pathogenic
4	67753832	A	T	A67753832T	GNRHR	NM_000406.3(GNRHR):c.504T>A:p.Ser168Arg	coding	Pathogenic
4	67753883	G	A	G67753883A	GNRHR	NM_000406.3(GNRHR):c.453C>T:p.Ser151=	coding	Benign
4	67753920	C	T	C67753920T	GNRHR	NM_000406.3(GNRHR):c.416G>A:p.Arg139His	coding	Pathogenic
4	67753944	A	G	A67753944G	GNRHR	NM_000406.3(GNRHR):c.392T>C:p.Met131Thr	coding	Pathogenic
4	67753950	G	T	G67753950T	GNRHR	NM_000406.3(GNRHR):c.386C>A:p.Ala129Asp	coding	Pathogenic
4	67753986	A	C	A67753986C	GNRHR	NM_000406.3(GNRHR):c.350T>G:p.Leu117Arg	coding	Pathogenic/Likely_pathogenic
4	67754019	T	C	T67754019C	GNRHR	NM_000406.3(GNRHR):c.317A>G:p.Gln106Arg	coding	Pathogenic/Likely_pathogenic
4	67754068	C	T	C67754068T	GNRHR	NM_000406.3(GNRHR):c.268G>A:p.Glu90Lys	coding	Pathogenic
4	67754192	G	C	G67754192C	GNRHR	NM_000406.3(GNRHR):c.144C>G:p.Leu48=	coding	Benign/Likely_benign
4	67754242	T	C	T67754242C	GNRHR	NM_000406.3(GNRHR):c.94A>G:p.Thr32Ala	coding	Pathogenic
4	67754559	T	C	T67754559C	GNRHR	NM_000406.2(GNRHR):c.-224A>G	noncoding	Benign
4	67755239	T	C	T67755239C	GNRHR	NM_000406.2(GNRHR):c.-904A>G	noncoding	Benign
4	67755479	A	G	A67755479G	GNRHR	NM_000406.2(GNRHR):c.-1144T>C	noncoding	Benign
4	67755590	A	G	A67755590G	GNRHR	NM_000406.2(GNRHR):c.-1255T>C	noncoding	Benign
4	67755614	C	T	C67755614T	GNRHR	NM_000406.2(GNRHR):c.-1279G>A	noncoding	Benign
4	67755832	G	A	G67755832A	GNRHR	NM_000406.2(GNRHR):c.-1497C>T	noncoding	Benign
4	68537870	G	A	G68537870A	UGT2B17	NM_001077.3(UGT2B17):c.1348C>T:p.His450Tyr	coding	Benign
4	68550851	C	T	C68550851T	UGT2B17	NM_001077.3(UGT2B17):c.1139G>A:p.Gly380Asp	coding	Benign
4	68567944	C	T	C68567944T	UGT2B17	NM_001077.3(UGT2B17):c.541G>A:p.Val181Ile	coding	Benign
4	68568232	C	A	C68568232A	UGT2B17	NM_001077.3(UGT2B17):c.253G>T:p.Asp85Tyr	coding	Benign
4	68647117	T	C	T68647117C	UGT2B15	NM_001076.4(UGT2B15):c.1580A>G:p.Lys527Arg	coding	Benign
4	68668031	T	C	T68668031C	UGT2B15	NM_001076.4(UGT2B15):c.873+9A>G	noncoding	Benign
4	68670445	A	C	A68670445C	UGT2B15	NM_001076.4(UGT2B15):c.174T>G:p.Ser58=	coding	Benign
4	69107234	C	T	C69107234T	UGT2B7	NM_001074.4(UGT2B7):c.1062C>T:p.Tyr354=	coding	Benign
4	69280747	A	G	A69280747G	UGT2B28	NM_053039.2(UGT2B28):c.247A>G:p.Lys83Glu	coding	Benign
4	69286847	C	T	C69286847T	UGT2B28	NM_053039.2(UGT2B28):c.966C>T:p.Asn322=	coding	Benign
4	69289743	G	T	G69289743T	UGT2B28	NM_053039.2(UGT2B28):c.1081G>T:p.Asp361Tyr	coding	Benign
4	69485306	T	A	T69485306A	UGT2B4	NM_021139.3(UGT2B4):c.1212A>T:p.Ala404=	coding	Benign
4	69495624	A	G	A69495624G	UGT2B4	NM_021139.3(UGT2B4):c.238T>C:p.Ser80Pro	coding	Benign
4	69495742	C	G	C69495742G	UGT2B4	NM_021139.3(UGT2B4):c.120G>C:p.Lys40Asn	coding	Benign
4	69594602	C	T	C69594602T	UGT2A1	NM_001105677.2(UGT2A2):c.1206G>A:p.Met402Ile	coding	Benign
4	69594611	T	A	T69594611A	UGT2A1	NM_001105677.2(UGT2A2):c.1197A>T:p.Gly399=	coding	Benign
4	69647481	G	A	G69647481A	UGT2A1	NM_006798.5(UGT2A1):c.164C>T:p.Ala55Val	coding	Benign
4	69734207	A	C	A69734207C	SULT1B1	NM_014465.4(SULT1B1):c.433T>G:p.Leu145Val	coding	Benign
4	69754755	A	G	A69754755G	SULT1B1	NM_014465.4(SULT1B1):c.192T>C:p.Asp64=	coding	Benign
4	69849474	G	A	G69849474A	SULT1E1	NM_005420.3(SULT1E1):c.459C>T:p.Ser153=	coding	Benign
4	69855343	G	T	G69855343T	SULT1E1	NM_005420.3(SULT1E1):c.229C>A:p.Arg77=	coding	Benign
4	69934249	A	G	A69934249G	CSN1S1	NM_001890.2(CSN1S1):c.84+5A>G	noncoding	Benign
4	69999816	G	A	G69999816A	STATH	NM_003154.3(STATH):c.102+7G>A	noncoding	Benign
4	70033188	G	C	G70033188C	HTN3	NM_000200.3(HTN3):c.124G>C:p.Gly42Arg	coding	Benign
4	70055510	T	C	T70055510C	HTN1	NM_002159.4(HTN1):c.115T>C:p.Ser39Pro	coding	Benign
4	70335082	A	G	A70335082G	CABS1	NM_033122.4(CABS1):c.43A>G:p.Thr15Ala	coding	Benign
4	70366652	G	A	G70366652A	SMR3A	NM_012390.4(SMR3A):c.63G>A:p.Glu21=	coding	Benign
4	70531211	G	T	G70531211T	AMTN	NM_212557.4(AMTN):c.530G>T:p.Gly177Val	coding	Benign
4	70599580	G	T	G70599580T	AMBN	NM_016519.6(AMBN):c.228G>T:p.Met76Ile	coding	Benign
4	70602623	G	C	G70602623C	AMBN	NM_016519.6(AMBN):c.532-1G>C	noncoding	Pathogenic
4	70602671	A	T	A70602671T	AMBN	NM_016519.6(AMBN):c.570+9A>T	noncoding	Benign
4	70606268	C	A	C70606268A	AMBN	NM_016519.6(AMBN):c.882C>A:p.His294Gln	coding	Benign
4	70606460	G	A	G70606460A	AMBN	NM_016519.6(AMBN):c.1074G>A:p.Lys358=	coding	Benign
4	70606517	C	T	C70606517T	AMBN	NM_016519.6(AMBN):c.1131C>T:p.Ser377=	coding	Benign
4	70606518	G	A	G70606518A	AMBN	NM_016519.6(AMBN):c.1132G>A:p.Val378Ile	coding	Benign
4	70628902	G	A	G70628902A	ENAM	NM_031889.3(ENAM):c.-123G>A	noncoding	Benign
4	70631707	T	G	T70631707G	ENAM	NM_031889.3(ENAM):c.92T>G:p.Leu31Arg	coding	Pathogenic/Likely_pathogenic
4	70631740	T	G	T70631740G	ENAM	NM_031889.3(ENAM):c.123+2T>G	noncoding	Pathogenic
4	70631882	A	T	A70631882T	ENAM	NM_031889.3(ENAM):c.157A>T:p.Lys53Ter	coding	Pathogenic
4	70632659	G	T	G70632659T	ENAM	NM_031889.3(ENAM):c.177G>T:p.Arg59=	coding	Benign/Likely_benign
4	70635895	G	A	G70635895A	ENAM	NM_031889.3(ENAM):c.534+1G>A	coding	Pathogenic
4	70642591	G	A	G70642591A	ENAM	NM_031889.3(ENAM):c.1165G>A:p.Gly389Ser	coding	Benign/Likely_benign
4	70643152	T	C	T70643152C	ENAM	NM_031889.3(ENAM):c.1726T>C:p.Phe576Leu	coding	Benign
4	70643268	C	G	C70643268G	ENAM	NM_031889.3(ENAM):c.1842C>G:p.Tyr614Ter	coding	Pathogenic
4	70643352	C	T	C70643352T	ENAM	NM_031889.3(ENAM):c.1926C>T:p.Thr642=	coding	Benign
4	70643369	T	C	T70643369C	ENAM	NM_031889.3(ENAM):c.1943T>C:p.Ile648Thr	coding	Benign
4	70643597	C	T	C70643597T	ENAM	NM_031889.3(ENAM):c.2171C>T:p.Pro724Leu	coding	Benign
4	70643667	C	T	C70643667T	ENAM	NM_031889.3(ENAM):c.2241C>T:p.Tyr747=	coding	Benign
4	70643714	G	A	G70643714A	ENAM	NM_031889.3(ENAM):c.2288G>A:p.Arg763Gln	coding	Benign
4	70644263	G	C	G70644263C	ENAM	NM_031889.3(ENAM):c.2837G>C:p.Arg946Thr	coding	Benign
4	70644651	C	T	C70644651T	ENAM	NM_031889.3(ENAM):c.3225C>T:p.Ser1075=	coding	Benign
4	70645119	C	G	C70645119G	ENAM	NM_031889.3(ENAM):c.*264C>G	noncoding	Benign
4	70645197	T	C	T70645197C	ENAM	NM_031889.3(ENAM):c.*342T>C	noncoding	Benign
4	70645439	A	T	A70645439T	ENAM	NM_031889.3(ENAM):c.*584A>T	noncoding	Benign
4	70645542	G	C	G70645542C	ENAM	NM_031889.3(ENAM):c.*687G>C	noncoding	Benign
4	70646367	G	A	G70646367A	ENAM	NM_031889.3(ENAM):c.*1512G>A	noncoding	Benign
4	70646490	G	C	G70646490C	ENAM	NM_031889.3(ENAM):c.*1635G>C	noncoding	Benign
4	70646654	T	C	T70646654C	ENAM	NM_031889.3(ENAM):c.*1799T>C	noncoding	Benign
4	70646684	G	A	G70646684A	ENAM	NM_031889.3(ENAM):c.*1829G>A	noncoding	Benign
4	70688745	C	T	C70688745T	UTP3	NM_020368.3(UTP3):c.68C>T:p.Thr23Met	coding	Benign
4	70688761	T	C	T70688761C	UTP3	NM_020368.3(UTP3):c.84T>C:p.Asn28=	coding	Benign
4	70689790	T	A	T70689790A	UTP3	NM_020368.3(UTP3):c.1113T>A:p.Asp371Glu	coding	Benign
4	70762515	G	T	G70762515T	RUFY3	NM_001037442.4(RUFY3):c.179-4G>T	noncoding	Benign
4	70773581	A	G	A70773581G	RUFY3	NM_001037442.4(RUFY3):c.758+9A>G	noncoding	Benign
4	70826183	G	A	G70826183A	GRSF1	NM_002092.4(GRSF1):c.1198C>T:p.Leu400=	coding	Benign
4	71339333	C	T	C71339333T	SLC4A4	NM_001098484.3(SLC4A4):c.254-37C>T	coding	Pathogenic
4	71350075	A	G	A71350075G	SLC4A4	NM_001098484.3(SLC4A4):c.550+3A>G	noncoding	Benign/Likely_benign
4	71357135	C	T	C71357135T	SLC4A4	NM_001098484.3(SLC4A4):c.678C>T:p.Asp226=	coding	Benign
4	71447694	C	T	C71447694T	SLC4A4	NM_001098484.3(SLC4A4):c.1014C>T:p.His338=	coding	Benign
4	71447706	A	C	A71447706C	SLC4A4	NM_001098484.3(SLC4A4):c.1026A>C:p.Arg342Ser	coding	Pathogenic
4	71451250	G	A	G71451250A	SLC4A4	NM_001098484.3(SLC4A4):c.1271G>A:p.Gly424Asp	coding	Benign
4	71451254	C	T	C71451254T	SLC4A4	NM_001098484.3(SLC4A4):c.1275C>T:p.His425=	coding	Benign
4	71472728	G	A	G71472728A	SLC4A4	NM_001098484.3(SLC4A4):c.1661G>A:p.Arg554His	coding	Pathogenic
4	71472750	C	T	C71472750T	SLC4A4	NM_001098484.3(SLC4A4):c.1683C>T:p.Ser561=	coding	Benign
4	71532071	C	T	C71532071T	SLC4A4	NM_001098484.3(SLC4A4):c.2176C>T:p.Leu726=	coding	Benign/Likely_benign
4	71532167	G	C	G71532167C	SLC4A4	NM_001098484.3(SLC4A4):c.2272G>C:p.Glu758Gln	coding	Benign
4	71534382	A	G	A71534382G	SLC4A4	NM_001098484.3(SLC4A4):c.2436A>G:p.Lys812=	coding	Benign/Likely_benign
4	71560096	T	C	T71560096C	SLC4A4	NM_001098484.3(SLC4A4):c.2941T>C:p.Leu981=	coding	Benign
4	71567828	A	C	A71567828C	SLC4A4	NM_001098484.3(SLC4A4):c.*77A>C	coding	Benign
4	71568162	G	C	G71568162C	SLC4A4	NM_001098484.3(SLC4A4):c.*411G>C	noncoding	Benign
4	71568379	T	G	T71568379G	SLC4A4	NM_001098484.3(SLC4A4):c.*628T>G	noncoding	Benign
4	71568689	G	C	G71568689C	SLC4A4	NM_001098484.3(SLC4A4):c.*938G>C	noncoding	Benign
4	71568740	T	A	T71568740A	SLC4A4	NM_001098484.3(SLC4A4):c.*989T>A	noncoding	Benign
4	71568957	A	G	A71568957G	SLC4A4	NM_001098484.3(SLC4A4):c.*1206A>G	noncoding	Benign
4	71568971	G	A	G71568971A	SLC4A4	NM_001098484.3(SLC4A4):c.*1220G>A	noncoding	Benign
4	71569128	G	C	G71569128C	SLC4A4	NM_001098484.3(SLC4A4):c.*1377G>C	noncoding	Benign
4	71569416	C	T	C71569416T	SLC4A4	NM_001098484.3(SLC4A4):c.*1665C>T	noncoding	Benign
4	71569696	A	T	A71569696T	SLC4A4	NM_001098484.3(SLC4A4):c.*1945A>T	noncoding	Benign
4	71569737	G	A	G71569737A	SLC4A4	NM_001098484.3(SLC4A4):c.*1986G>A	noncoding	Benign
4	71569903	G	T	G71569903T	SLC4A4	NM_001098484.3(SLC4A4):c.*2152G>T	noncoding	Benign
4	71570080	A	C	A71570080C	SLC4A4	NM_001098484.3(SLC4A4):c.*2329A>C	noncoding	Benign
4	71570097	T	C	T71570097C	SLC4A4	NM_001098484.3(SLC4A4):c.*2346T>C	noncoding	Benign
4	71570104	C	G	C71570104G	SLC4A4	NM_001098484.3(SLC4A4):c.*2353C>G	noncoding	Benign
4	71570167	A	G	A71570167G	SLC4A4	NM_001098484.3(SLC4A4):c.*2416A>G	noncoding	Benign
4	71570518	A	G	A71570518G	SLC4A4	NM_001098484.3(SLC4A4):c.*2767A>G	noncoding	Benign
4	71570615	G	A	G71570615A	SLC4A4	NM_001098484.3(SLC4A4):c.*2864G>A	noncoding	Benign
4	71752580	G	A	G71752580A	GC	NM_000583.4(GC):c.1333C>T:p.His445Tyr	coding	Benign
4	71752606	G	T	G71752606T	GC	NM_000583.4(GC):c.1307C>A:p.Thr436Lys	coding	Benign
4	71752617	A	C	A71752617C	GC	NM_000583.4(GC):c.1296T>G:p.Asp432Glu	coding	Benign
4	71752640	G	T	G71752640T	GC	NM_000583.4(GC):c.1273C>A:p.Arg425=	coding	Benign
4	71756884	T	C	T71756884C	GC	NM_000583.4(GC):c.862A>G:p.Asn288Asp	coding	Benign
4	71763912	A	G	A71763912G	GC	NM_000583.4(GC):c.498T>C:p.Asn166=	coding	Benign
4	71765497	G	A	G71765497A	GC	NM_000583.4(GC):c.408C>T:p.Tyr136=	coding	Benign
4	71765623	C	T	C71765623T	GC	NM_000583.4(GC):c.282G>A:p.Lys94=	coding	Benign
4	72032006	C	G	C72032006G	NPFFR2	NM_004885.2(NPFFR2):c.105C>G:p.Ser35Arg	coding	Benign
4	72128808	A	G	A72128808G	NPFFR2	NM_004885.2(NPFFR2):c.523A>G:p.Asn175Asp	coding	Benign
4	72146992	T	C	T72146992C	NPFFR2	NM_004885.2(NPFFR2):c.749T>C:p.Val250Ala	coding	Benign
4	72283311	G	A	G72283311A	ADAMTS3	NM_014243.3(ADAMTS3):c.3443C>T:p.Pro1148Leu	coding	Benign
4	72283534	A	G	A72283534G	ADAMTS3	NM_014243.3(ADAMTS3):c.3220T>C:p.Ser1074Pro	coding	Benign
4	72283571	G	A	G72283571A	ADAMTS3	NM_014243.3(ADAMTS3):c.3183C>T:p.Tyr1061=	coding	Benign
4	72312458	T	C	T72312458C	ADAMTS3	NM_014243.3(ADAMTS3):c.1754A>G:p.Asn585Ser	coding	Benign
4	72312471	A	C	A72312471C	ADAMTS3	NM_014243.3(ADAMTS3):c.1746-5T>G	noncoding	Benign
4	72319430	C	T	C72319430T	ADAMTS3	NM_014243.3(ADAMTS3):c.1254G>A:p.Glu418=	coding	Benign
4	72319883	C	T	C72319883T	ADAMTS3	NM_014243.3(ADAMTS3):c.1183G>A:p.Val395Ile	coding	Benign
4	72323087	A	G	A72323087G	ADAMTS3	NM_014243.3(ADAMTS3):c.872T>C:p.Ile291Thr	coding	Pathogenic
4	72414808	C	T	C72414808T	ADAMTS3	NM_014243.3(ADAMTS3):c.661+7G>A	noncoding	Benign
4	72548479	A	G	A72548479G	ADAMTS3	NM_014243.3(ADAMTS3):c.503T>C:p.Leu168Pro	coding	Pathogenic
4	72548702	G	A	G72548702A	ADAMTS3	NM_014243.3(ADAMTS3):c.280C>T:p.Arg94Ter	coding	Pathogenic
4	73404398	G	A	G73404398A	ALB	NM_000477.5(ALB):c.71G>A:p.Arg24Gln	coding	Pathogenic
4	73404401	A	T	A73404401T	ALB	NM_000477.7(ALB):c.74A>T:p.Asp25Val	coding	Pathogenic
4	73404407	G	A	G73404407A	ALB	NM_000477.7(ALB):c.79+1G>A	coding	Pathogenic
4	73406739	C	T	C73406739T	ALB	NM_000477.7(ALB):c.248C>T:p.Ala83Val	coding	Benign
4	73408586	C	T	C73408586T	ALB	NM_000477.7(ALB):c.271-8C>T	noncoding	Benign
4	73408735	C	T	C73408735T	ALB	NM_000477.7(ALB):c.412C>T:p.Arg138Ter	coding	Pathogenic
4	73409484	A	G	A73409484G	ALB	NM_000477.7(ALB):c.612A>G:p.Pro204=	coding	Benign
4	73409501	G	T	G73409501T	ALB	NM_000477.7(ALB):c.615+14G>T	noncoding	Benign
4	73410309	T	C	T73410309C	ALB	NM_000477.7(ALB):c.616-3T>C	noncoding	Benign
4	73411994	A	G	A73411994G	ALB	NM_000477.7(ALB):c.714-2A>G	noncoding	Pathogenic
4	73412135	C	T	C73412135T	ALB	NM_000477.7(ALB):c.843+10C>T	noncoding	Benign
4	73413454	A	G	A73413454G	ALB	NM_000477.7(ALB):c.878A>G:p.Asp293Gly	coding	Benign
4	73413467	T	C	T73413467C	ALB	NM_000477.7(ALB):c.891T>C:p.Ser297=	coding	Benign
4	73415178	T	A	T73415178A	ALB	NM_000477.7(ALB):c.1191+11T>A	noncoding	Benign
4	73416294	T	C	T73416294C	ALB	NM_000477.7(ALB):c.1230T>C:p.Asn410=	coding	Benign
4	73417525	T	C	T73417525C	ALB	NM_000477.7(ALB):c.1290-6T>C	noncoding	Benign
4	73418267	T	C	T73418267C	ALB	NM_000477.7(ALB):c.1608T>C:p.Asp536=	coding	Benign
4	73419522	C	T	C73419522T	ALB	NM_000477.7(ALB):c.1668C>T:p.Leu556=	coding	Benign
4	73419547	A	G	A73419547G	ALB	NM_000477.7(ALB):c.1693A>G:p.Lys565Glu	coding	Pathogenic
4	73419634	G	A	G73419634A	ALB	NM_000477.7(ALB):c.1780G>A:p.Glu594Lys	coding	Pathogenic
4	73419646	C	T	C73419646T	ALB	NM_000477.7(ALB):c.1785+7C>T	noncoding	Benign
4	73420257	A	G	A73420257G	ALB	NM_000477.7(ALB):c.1789A>G:p.Lys597Glu	coding	Benign
4	73420317	C	T	C73420317T	ALB	NM_000477.7(ALB):c.*19C>T	noncoding	Benign
4	73440656	G	C	G73440656C	AFP	NM_001134.3(AFP):c.325G>C:p.Gly109Arg	coding	Benign
4	73442356	G	A	G73442356A	AFP	NM_001134.3(AFP):c.543G>A:p.Trp181Ter	coding	Pathogenic
4	73447476	C	T	C73447476T	AFP	NM_001134.3(AFP):c.858C>T:p.Ser286=	coding	Benign
4	73450660	G	A	G73450660A	AFP	NM_001134.3(AFP):c.1335G>A:p.Ser445=	coding	Benign
4	73576478	A	T	A73576478T	RASSF6	NM_177532.5(RASSF6):c.870T>A:p.Ser290=	coding	Benign
4	73869777	C	T	C73869777T	CXCL1	NM_001511.4(CXCL1):c.209C>T:p.Ala70Val	coding	Benign
4	73981419	C	G	C73981419G	PF4	NM_002619.4(PF4):c.216G>C:p.Leu72=	coding	Benign
4	74384738	G	A	G74384738A	EREG	NM_001432.3(EREG):c.440G>A:p.Arg147Gln	coding	Benign
4	74446570	A	G	A74446570G	AREG	NM_001657.4(AREG):c.98A>G:p.Tyr33Cys	coding	Benign
4	74770091	G	A	G74770091A	BTC	NM_001729.4(BTC):c.130C>T:p.Leu44Phe	coding	Benign
4	75012704	G	C	G75012704C	PARM1	NM_015393.4(PARM1):c.323G>C:p.Gly108Ala	coding	Benign
4	75514275	C	T	C75514275T	RCHY1	NM_015436.3(RCHY1):c.12G>A:p.Thr4=	coding	Benign
4	75564112	A	T	A75564112T	ODAPH	NM_001206981.2(ODAPH):c.112-2A>T	noncoding	Pathogenic
4	75564135	C	T	C75564135T	ODAPH	NM_001206981.2(ODAPH):c.133C>T:p.Leu45Phe	coding	Benign
4	75564175	C	A	C75564175A	ODAPH	NM_001206981.2(ODAPH):c.173C>A:p.Ala58Asp	coding	Pathogenic
4	75564275	C	T	C75564275T	ODAPH	NM_001206981.2(ODAPH):c.273C>T:p.His91=	coding	Pathogenic
4	75564323	T	C	T75564323C	ODAPH	NM_178497.5(ODAPH):c.277T>C:p.Ser93Pro	coding	Benign
4	75564364	G	A	G75564364A	ODAPH	NM_178497.3(C4orf26):c.318G>A	coding	Pathogenic
4	75921004	C	T	C75921004T	NAAA	NM_014435.4(NAAA):c.786G>A:p.Thr262=	coding	Benign
4	75921130	G	A	G75921130A	NAAA	NM_014435.4(NAAA):c.667-7C>T	noncoding	Benign
4	75957574	G	C	G75957574C	SDAD1	NM_018115.4(SDAD1):c.1713C>G:p.Ala571=	coding	Benign
4	75967344	G	T	G75967344T	SDAD1	NM_018115.4(SDAD1):c.988-10C>A	noncoding	Benign
4	75982032	T	C	T75982032C	SDAD1	NM_018115.4(SDAD1):c.96A>G:p.Leu32=	coding	Benign
4	76003601	T	C	T76003601C	CXCL9	NM_002416.3(CXCL9):c.375A>G:p.Thr125=	coding	Benign
4	76022401	G	T	G76022401T	CXCL10	NM_001565.4(CXCL10):c.243C>A:p.Ala81=	coding	Benign
4	76022794	G	A	G76022794A	CXCL10	NM_001565.4(CXCL10):c.85C>T:p.Arg29Cys	coding	Benign
4	76161738	T	C	T76161738C	SCARB2	NM_005506.4(SCARB2):c.1412A>G:p.Glu471Gly	coding	Pathogenic
4	76161971	C	A	C76161971A	SCARB2	NM_005506.4(SCARB2):c.1399-220G>T	noncoding	Benign
4	76162031	G	A	G76162031A	SCARB2	NM_005506.4(SCARB2):c.1399-280C>T	noncoding	Benign
4	76163353	G	A	G76163353A	SCARB2	NM_005506.4(SCARB2):c.1270C>T:p.Arg424Ter	coding	Pathogenic
4	76166236	G	A	G76166236A	SCARB2	NM_005506.4(SCARB2):c.1239+14C>T	noncoding	Benign
4	76166249	C	A	C76166249A	SCARB2	NM_005506.4(SCARB2):c.1239+1G>T	noncoding	Pathogenic
4	76168346	C	T	C76168346T	SCARB2	NM_005506.4(SCARB2):c.1187+57G>A	noncoding	Benign
4	76168404	C	T	C76168404T	SCARB2	NM_005506.4(SCARB2):c.1186G>A:p.Val396Ile	coding	Benign
4	76168478	T	G	T76168478G	SCARB2	NM_005506.4(SCARB2):c.1114-2A>C	noncoding	Pathogenic
4	76168775	C	G	C76168775G	SCARB2	NM_005506.4(SCARB2):c.1114-299G>C	noncoding	Benign
4	76169853	A	T	A76169853T	SCARB2	NM_005506.4(SCARB2):c.1113+14T>A	noncoding	Benign
4	76169893	G	T	G76169893T	SCARB2	NM_005506.4(SCARB2):c.1087C>A:p.His363Asn	coding	Pathogenic
4	76173895	A	G	A76173895G	SCARB2	NM_005506.4(SCARB2):c.994+249T>C	noncoding	Benign
4	76174276	G	A	G76174276A	SCARB2	NM_005506.4(SCARB2):c.862C>T:p.Gln288Ter	coding	Pathogenic
4	76176183	C	T	C76176183T	SCARB2	NM_005506.4(SCARB2):c.704+254G>A	noncoding	Benign
4	76176220	A	C	A76176220C	SCARB2	NM_005506.4(SCARB2):c.704+217T>G	noncoding	Benign
4	76176421	A	G	A76176421G	SCARB2	NM_005506.4(SCARB2):c.704+16T>C	noncoding	Benign
4	76176436	C	G	C76176436G	SCARB2	NM_005506.4(SCARB2):c.704+1G>C	noncoding	Pathogenic
4	76176436	C	T	C76176436T	SCARB2	NM_005506.4(SCARB2):c.704+1G>A	noncoding	Pathogenic
4	76176798	G	A	G76176798A	SCARB2	NM_005506.4(SCARB2):c.613-270C>T	noncoding	Benign
4	76179562	A	G	A76179562G	SCARB2	NM_005506.4(SCARB2):c.567T>C:p.His189=	coding	Benign/Likely_benign
4	76179596	C	T	C76179596T	SCARB2	NM_005506.4(SCARB2):c.533G>A:p.Trp178Ter	coding	Pathogenic
4	76179654	T	C	T76179654C	SCARB2	NM_005506.4(SCARB2):c.475A>G:p.Met159Val	coding	Benign
4	76179707	T	G	T76179707G	SCARB2	NM_005506.4(SCARB2):c.424-2A>C	noncoding	Pathogenic
4	76179915	T	C	T76179915C	SCARB2	NM_005506.4(SCARB2):c.424-210A>G	noncoding	Benign
4	76181015	C	T	C76181015T	SCARB2	NM_005506.4(SCARB2):c.362G>A:p.Arg121Gln	coding	Benign
4	76181016	G	A	G76181016A	SCARB2	NM_005506.4(SCARB2):c.361C>T:p.Arg121Ter	coding	Pathogenic/Likely_pathogenic
4	76181270	G	A	G76181270A	SCARB2	NM_005506.4(SCARB2):c.276-169C>T	noncoding	Benign
4	76195506	G	A	G76195506A	SCARB2	NM_005506.4(SCARB2):c.275+201C>T	noncoding	Benign
4	76195736	C	G	C76195736G	SCARB2	NM_005506.4(SCARB2):c.246G>C:p.Arg82=	coding	Benign/Likely_benign
4	76195811	A	G	A76195811G	SCARB2	NM_005506.4(SCARB2):c.171T>C:p.Pro57=	coding	Benign
4	76195891	C	T	C76195891T	SCARB2	NM_005506.4(SCARB2):c.118-27G>A	noncoding	Benign
4	76195943	G	A	G76195943A	SCARB2	NM_005506.4(SCARB2):c.118-79C>T	noncoding	Benign
4	76196072	G	A	G76196072A	SCARB2	NM_005506.4(SCARB2):c.118-208C>T	noncoding	Benign
4	76213312	C	T	C76213312T	SCARB2	NM_005506.4(SCARB2):c.117+115G>A	noncoding	Benign
4	76213496	C	G	C76213496G	SCARB2	NM_005506.4(SCARB2):c.48G>C:p.Leu16=	coding	Benign
4	76213566	G	C	G76213566C	SCARB2	NM_005506.4(SCARB2):c.-23C>G	noncoding	Benign
4	76213570	G	C	G76213570C	SCARB2	NM_005506.4(SCARB2):c.-27C>G	noncoding	Benign
4	76213633	C	T	C76213633T	SCARB2	NM_005506.4(SCARB2):c.-90G>A	noncoding	Benign
4	76213717	G	A	G76213717A	SCARB2	NM_005506.4(SCARB2):c.-174C>T	noncoding	Benign
4	76555656	T	C	T76555656C	SHROOM3	NM_020859.4(SHROOM3):c.216T>C:p.Ala72=	coding	Benign
4	76739009	G	C	G76739009C	SHROOM3	NM_020859.4(SHROOM3):c.836G>C:p.Gly279Ala	coding	Benign
4	76739146	T	G	T76739146G	SHROOM3	NM_020859.4(SHROOM3):c.973T>G:p.Ser325Ala	coding	Benign
4	76739397	T	C	T76739397C	SHROOM3	NM_020859.4(SHROOM3):c.1224T>C:p.Asp408=	coding	Benign
4	76739578	C	G	C76739578G	SHROOM3	NM_020859.4(SHROOM3):c.1405C>G:p.Pro469Ala	coding	Benign
4	76740012	G	A	G76740012A	SHROOM3	NM_020859.4(SHROOM3):c.1839G>A:p.Ala613=	coding	Benign
4	76740468	C	T	C76740468T	SHROOM3	NM_020859.4(SHROOM3):c.2295C>T:p.Ser765=	coding	Benign
4	76741095	G	A	G76741095A	SHROOM3	NM_020859.4(SHROOM3):c.2922G>A:p.Ser974=	coding	Benign
4	76741156	C	T	C76741156T	SHROOM3	NM_020859.4(SHROOM3):c.2983C>T:p.Leu995=	coding	Benign
4	76741333	G	A	G76741333A	SHROOM3	NM_020859.4(SHROOM3):c.3160G>A:p.Val1054Met	coding	Benign
4	76754772	G	A	G76754772A	SHROOM3	NM_020859.4(SHROOM3):c.4289G>A:p.Arg1430Gln	coding	Benign
4	76754924	A	C	A76754924C	SHROOM3	NM_020859.4(SHROOM3):c.4441A>C:p.Thr1481Pro	coding	Benign
4	76754977	G	A	G76754977A	SHROOM3	NM_020859.4(SHROOM3):c.4494G>A:p.Pro1498=	coding	Benign
4	76755085	G	T	G76755085T	SHROOM3	NM_020859.4(SHROOM3):c.4602G>T:p.Pro1534=	coding	Benign
4	76755153	C	T	C76755153T	SHROOM3	NM_020859.4(SHROOM3):c.4670C>T:p.Ala1557Val	coding	Benign
4	76756493	T	A	T76756493A	SHROOM3	NM_020859.4(SHROOM3):c.4754T>A:p.Met1585Lys	coding	Benign
4	76779100	A	G	A76779100G	SHROOM3	NM_020859.4(SHROOM3):c.5914A>G:p.Asn1972Asp	coding	Benign
4	76895471	G	T	G76895471T	SOWAHB	NM_001029870.3(SOWAHB):c.2379C>A:p.Asp793Glu	coding	Benign
4	77158583	T	C	T77158583C	CCNG2	NM_004354.3(CCNG2):c.51T>C:p.Leu17=	coding	Benign
4	77158615	A	G	A77158615G	CCNG2	NM_004354.3(CCNG2):c.83A>G:p.Glu28Gly	coding	Benign
4	77160852	T	C	T77160852C	CCNG2	NM_004354.3(CCNG2):c.408T>C:p.Ser136=	coding	Benign
4	77164408	C	T	C77164408T	CCNG2	NM_004354.3(CCNG2):c.840C>T:p.Leu280=	coding	Benign
4	78057753	G	T	G78057753T	FRAS1	NM_025074.7(FRAS1):c.-257G>T	noncoding	Benign
4	78057945	T	C	T78057945C	FRAS1	NM_025074.7(FRAS1):c.-65T>C	noncoding	Benign
4	78057987	C	T	C78057987T	FRAS1	NM_025074.7(FRAS1):c.-23C>T	noncoding	Benign
4	78066003	A	G	A78066003G	FRAS1	NM_025074.7(FRAS1):c.95A>G:p.Asp32Gly	coding	Benign
4	78068562	T	C	T78068562C	FRAS1	NM_025074.7(FRAS1):c.108+2546T>C	noncoding	Benign
4	78237561	G	C	G78237561C	FRAS1	NM_025074.7(FRAS1):c.160G>C:p.Asp54His	coding	Benign
4	78237602	A	G	A78237602G	FRAS1	NM_025074.7(FRAS1):c.201A>G:p.Gln67=	coding	Benign/Likely_benign
4	78245301	C	A	C78245301A	FRAS1	NM_025074.7(FRAS1):c.285C>A:p.Cys95Ter	coding	Pathogenic
4	78245324	A	T	A78245324T	FRAS1	NM_025074.7(FRAS1):c.308A>T:p.Glu103Val	coding	Benign
4	78252452	C	T	C78252452T	FRAS1	NM_025074.7(FRAS1):c.370C>T:p.Arg124Ter	coding	Pathogenic
4	78252462	C	G	C78252462G	FRAS1	NM_025074.7(FRAS1):c.380C>G:p.Pro127Arg	coding	Benign
4	78252556	G	T	G78252556T	FRAS1	NM_025074.7(FRAS1):c.469+5G>T	noncoding	Pathogenic
4	78255238	C	G	C78255238G	FRAS1	NM_025074.7(FRAS1):c.470-4C>G	noncoding	Benign
4	78255288	G	A	G78255288A	FRAS1	NM_025074.7(FRAS1):c.516G>A:p.Trp172Ter	coding	Pathogenic
4	78255290	G	A	G78255290A	FRAS1	NM_025074.7(FRAS1):c.518G>A:p.Arg173Gln	coding	Benign
4	78264893	G	A	G78264893A	FRAS1	NM_025074.7(FRAS1):c.604-132G>A	noncoding	Benign
4	78265017	G	A	G78265017A	FRAS1	NM_025074.7(FRAS1):c.604-8G>A	noncoding	Benign
4	78265040	C	T	C78265040T	FRAS1	NM_025074.7(FRAS1):c.619C>T:p.Arg207Ter	coding	Pathogenic
4	78265046	C	T	C78265046T	FRAS1	NM_025074.7(FRAS1):c.625C>T:p.Pro209Ser	coding	Benign
4	78265103	T	C	T78265103C	FRAS1	NM_025074.7(FRAS1):c.682T>C:p.Tyr228His	coding	Benign
4	78266821	T	C	T78266821C	FRAS1	NM_025074.7(FRAS1):c.688-13T>C	noncoding	Benign
4	78266829	T	G	T78266829G	FRAS1	NM_025074.7(FRAS1):c.688-5T>G	noncoding	Pathogenic
4	78266873	A	G	A78266873G	FRAS1	NM_025074.7(FRAS1):c.727A>G:p.Ile243Val	coding	Benign
4	78266922	T	G	T78266922G	FRAS1	NM_025074.7(FRAS1):c.776T>G:p.Leu259Arg	coding	Benign/Likely_benign
4	78266947	T	G	T78266947G	FRAS1	NM_025074.7(FRAS1):c.789+12T>G	noncoding	Benign
4	78267331	C	T	C78267331T	FRAS1	NM_025074.7(FRAS1):c.880C>T:p.Gln294Ter	coding	Pathogenic
4	78267430	C	T	C78267430T	FRAS1	NM_025074.7(FRAS1):c.979C>T:p.Arg327Trp	coding	Benign
4	78267441	C	T	C78267441T	FRAS1	NM_025074.7(FRAS1):c.981+9C>T	noncoding	Benign
4	78281393	C	T	C78281393T	FRAS1	NM_025074.7(FRAS1):c.1072-5C>T	noncoding	Benign
4	78282833	G	A	G78282833A	FRAS1	NM_025074.7(FRAS1):c.1121G>A:p.Trp374Ter	coding	Pathogenic
4	78282865	C	T	C78282865T	FRAS1	NM_025074.7(FRAS1):c.1153C>T:p.Arg385Ter	coding	Pathogenic
4	78282977	T	C	T78282977C	FRAS1	NM_025074.7(FRAS1):c.1255+10T>C	noncoding	Benign/Likely_benign
4	78284435	C	A	C78284435A	FRAS1	NM_025074.7(FRAS1):c.1286C>A:p.Ser429Tyr	coding	Benign
4	78284545	T	A	T78284545A	FRAS1	NM_025074.7(FRAS1):c.1396T>A:p.Leu466Ile	coding	Benign
4	78284549	G	A	G78284549A	FRAS1	NM_025074.7(FRAS1):c.1399+1G>A	coding	Pathogenic
4	78286421	C	T	C78286421T	FRAS1	NM_025074.7(FRAS1):c.1416C>T:p.Cys472=	coding	Benign
4	78308062	G	A	G78308062A	FRAS1	NM_025074.7(FRAS1):c.1535-4G>A	noncoding	Benign
4	78308148	A	G	A78308148G	FRAS1	NM_025074.7(FRAS1):c.1617A>G:p.Arg539=	coding	Benign
4	78308166	C	T	C78308166T	FRAS1	NM_025074.7(FRAS1):c.1635C>T:p.Ser545=	coding	Benign/Likely_benign
4	78315625	C	T	C78315625T	FRAS1	NM_025074.7(FRAS1):c.1710C>T:p.Pro570=	coding	Benign
4	78315684	T	C	T78315684C	FRAS1	NM_025074.7(FRAS1):c.1769T>C:p.Met590Thr	coding	Benign/Likely_benign
4	78317495	T	C	T78317495C	FRAS1	NM_025074.7(FRAS1):c.1947T>C:p.His649=	coding	Benign
4	78318859	T	A	T78318859A	FRAS1	NM_025074.7(FRAS1):c.2010T>A:p.Cys670Ter	coding	Pathogenic
4	78318909	A	G	A78318909G	FRAS1	NM_025074.7(FRAS1):c.2060A>G:p.Asp687Gly	coding	Benign
4	78318977	A	C	A78318977C	FRAS1	NM_025074.7(FRAS1):c.2128A>C:p.Ile710Leu	coding	Benign
4	78337708	G	T	G78337708T	FRAS1	NM_025074.7(FRAS1):c.2313G>T:p.Pro771=	coding	Benign
4	78363540	C	T	C78363540T	FRAS1	NM_025074.7(FRAS1):c.2450C>T:p.Ala817Val	coding	Benign
4	78363680	G	A	G78363680A	FRAS1	NM_025074.7(FRAS1):c.2575+15G>A	noncoding	Benign
4	78363992	C	G	C78363992G	FRAS1	NM_025074.7(FRAS1):c.2660C>G:p.Thr887Ser	coding	Benign
4	78364051	C	T	C78364051T	FRAS1	NM_025074.7(FRAS1):c.2719C>T:p.Gln907Ter	coding	Pathogenic/Likely_pathogenic
4	78364055	G	A	G78364055A	FRAS1	NM_025074.7(FRAS1):c.2722+1G>A	coding	Pathogenic
4	78374168	G	A	G78374168A	FRAS1	NM_025074.7(FRAS1):c.3068G>A:p.Gly1023Glu	coding	Benign
4	78374224	G	A	G78374224A	FRAS1	NM_025074.7(FRAS1):c.3124G>A:p.Ala1042Thr	coding	Benign
4	78379745	T	C	T78379745C	FRAS1	NM_025074.7(FRAS1):c.3312T>C:p.Ser1104=	coding	Benign
4	78379839	G	A	G78379839A	FRAS1	NM_025074.7(FRAS1):c.3406G>A:p.Glu1136Lys	coding	Benign
4	78379842	G	A	G78379842A	FRAS1	NM_025074.7(FRAS1):c.3409G>A:p.Asp1137Asn	coding	Benign
4	78387456	C	T	C78387456T	FRAS1	NM_025074.7(FRAS1):c.3730C>T:p.Arg1244Ter	coding	Pathogenic
4	78387525	C	T	C78387525T	FRAS1	NM_025074.7(FRAS1):c.3799C>T:p.Gln1267Ter	coding	Pathogenic
4	78387677	G	A	G78387677A	FRAS1	NM_025074.7(FRAS1):c.3951G>A:p.Leu1317=	coding	Benign
4	78400869	C	T	C78400869T	FRAS1	NM_025074.7(FRAS1):c.4111C>T:p.Gln1371Ter	coding	Pathogenic
4	78407676	T	C	T78407676C	FRAS1	NM_025074.7(FRAS1):c.4143T>C:p.Leu1381=	coding	Benign
4	78407716	C	T	C78407716T	FRAS1	NM_025074.7(FRAS1):c.4183C>T:p.Gln1395Ter	coding	Pathogenic
4	78407804	C	G	C78407804G	FRAS1	NM_025074.7(FRAS1):c.4271C>G:p.Ser1424Ter	coding	Pathogenic
4	78407851	G	T	G78407851T	FRAS1	NM_025074.7(FRAS1):c.4308+10G>T	noncoding	Benign/Likely_benign
4	78421957	G	A	G78421957A	FRAS1	NM_025074.7(FRAS1):c.4635G>A:p.Pro1545=	coding	Benign
4	78421978	G	A	G78421978A	FRAS1	NM_025074.7(FRAS1):c.4656G>A:p.Glu1552=	coding	Benign
4	78429198	G	A	G78429198A	FRAS1	NM_025074.7(FRAS1):c.4815G>A:p.Ala1605=	coding	Benign/Likely_benign
4	78430325	C	T	C78430325T	FRAS1	NM_025074.7(FRAS1):c.4877C>T:p.Ala1626Val	coding	Benign
4	78430388	C	T	C78430388T	FRAS1	NM_025074.7(FRAS1):c.4940C>T:p.Thr1647Ile	coding	Benign
4	78430406	C	T	C78430406T	FRAS1	NM_025074.7(FRAS1):c.4958C>T:p.Pro1653Leu	coding	Benign/Likely_benign
4	78430407	G	A	G78430407A	FRAS1	NM_025074.7(FRAS1):c.4959G>A:p.Pro1653=	coding	Benign/Likely_benign
4	78430426	A	C	A78430426C	FRAS1	NM_025074.7(FRAS1):c.4969+9A>C	noncoding	Benign
4	78432512	C	T	C78432512T	FRAS1	NM_025074.7(FRAS1):c.5125C>T:p.Arg1709Ter	coding	Pathogenic
4	78432521	C	T	C78432521T	FRAS1	NM_025074.7(FRAS1):c.5134C>T:p.Arg1712Ter	coding	Pathogenic
4	78432595	T	C	T78432595C	FRAS1	NM_025074.7(FRAS1):c.5208T>C:p.Leu1736=	coding	Benign
4	78438731	T	G	T78438731G	FRAS1	NM_025074.7(FRAS1):c.5366+13T>G	noncoding	Benign
4	78446817	C	T	C78446817T	FRAS1	NM_025074.7(FRAS1):c.5947C>T:p.Leu1983=	coding	Benign
4	78446880	G	A	G78446880A	FRAS1	NM_025074.7(FRAS1):c.6010G>A:p.Gly2004Ser	coding	Pathogenic
4	78446888	A	G	A78446888G	FRAS1	NM_025074.7(FRAS1):c.6010+8A>G	noncoding	Benign
4	78446890	G	A	G78446890A	FRAS1	NM_025074.7(FRAS1):c.6010+10G>A	noncoding	Benign
4	78446893	C	T	C78446893T	FRAS1	NM_025074.7(FRAS1):c.6010+13C>T	noncoding	Benign
4	78448081	T	C	T78448081C	FRAS1	NM_025074.7(FRAS1):c.6039T>C:p.Ser2013=	coding	Benign
4	78448166	C	T	C78448166T	FRAS1	NM_025074.7(FRAS1):c.6124C>T:p.Pro2042Ser	coding	Benign
4	78448294	C	T	C78448294T	FRAS1	NM_025074.7(FRAS1):c.6252C>T:p.Asn2084=	coding	Benign
4	78450177	C	T	C78450177T	FRAS1	NM_025074.7(FRAS1):c.6301C>T:p.His2101Tyr	coding	Benign/Likely_benign
4	78450320	C	T	C78450320T	FRAS1	NM_025074.7(FRAS1):c.6444C>T:p.Thr2148=	coding	Benign
4	78451776	C	T	C78451776T	FRAS1	NM_025074.7(FRAS1):c.6468C>T:p.His2156=	coding	Benign
4	78451838	T	C	T78451838C	FRAS1	NM_025074.7(FRAS1):c.6530T>C:p.Val2177Ala	coding	Benign/Likely_benign
4	78452199	C	T	C78452199T	FRAS1	NM_025074.7(FRAS1):c.6608C>T:p.Thr2203Ile	coding	Benign
4	78452282	G	A	G78452282A	FRAS1	NM_025074.7(FRAS1):c.6691G>A:p.Gly2231Arg	coding	Benign
4	78452345	G	A	G78452345A	FRAS1	NM_025074.7(FRAS1):c.6754G>A:p.Ala2252Thr	coding	Benign
4	78464478	C	T	C78464478T	FRAS1	NM_025074.7(FRAS1):c.6924C>T:p.Val2308=	coding	Benign
4	78464493	C	T	C78464493T	FRAS1	NM_025074.7(FRAS1):c.6939C>T:p.Pro2313=	coding	Benign/Likely_benign
4	78464565	G	A	G78464565A	FRAS1	NM_025074.7(FRAS1):c.7011G>A:p.Ala2337=	coding	Benign
4	78464592	A	C	A78464592C	FRAS1	NM_025074.7(FRAS1):c.7029+9A>C	noncoding	Benign/Likely_benign
4	78466231	C	T	C78466231T	FRAS1	NM_025074.7(FRAS1):c.7053C>T:p.Ile2351=	coding	Benign
4	78466252	C	T	C78466252T	FRAS1	NM_025074.7(FRAS1):c.7074C>T:p.Gly2358=	coding	Benign
4	78466288	C	T	C78466288T	FRAS1	NM_025074.7(FRAS1):c.7110C>T:p.His2370=	coding	Benign
4	78466310	A	G	A78466310G	FRAS1	NM_025074.7(FRAS1):c.7132A>G:p.Lys2378Glu	coding	Benign
4	78466432	A	G	A78466432G	FRAS1	NM_025074.7(FRAS1):c.7254A>G:p.Lys2418=	coding	Benign
4	78470102	T	C	T78470102C	FRAS1	NM_025074.7(FRAS1):c.7371+11T>C	noncoding	Benign
4	78472331	G	T	G78472331T	FRAS1	NM_025074.7(FRAS1):c.7522+1G>T	coding	Pathogenic
4	78473548	G	A	G78473548A	FRAS1	NM_025074.7(FRAS1):c.7633G>A:p.Asp2545Asn	coding	Benign
4	78473567	A	G	A78473567G	FRAS1	NM_025074.7(FRAS1):c.7652A>G:p.Gln2551Arg	coding	Benign
4	78475456	G	A	G78475456A	FRAS1	NM_025074.7(FRAS1):c.7701G>A:p.Lys2567=	coding	Benign
4	78475513	C	T	C78475513T	FRAS1	NM_025074.7(FRAS1):c.7758C>T:p.Ile2586=	coding	Benign
4	78478062	G	T	G78478062T	FRAS1	NM_025074.7(FRAS1):c.8098+1G>T	coding	Pathogenic
4	78479490	G	A	G78479490A	FRAS1	NM_025074.7(FRAS1):c.8215G>A:p.Ala2739Thr	coding	Benign
4	78479692	C	T	C78479692T	FRAS1	NM_025074.7(FRAS1):c.8417C>T:p.Thr2806Met	coding	Benign
4	78479714	C	T	C78479714T	FRAS1	NM_025074.7(FRAS1):c.8439C>T:p.Asp2813=	coding	Benign
4	78481934	G	A	G78481934A	FRAS1	NM_025074.7(FRAS1):c.8574G>A:p.Lys2858=	coding	Benign/Likely_benign
4	78481962	C	T	C78481962T	FRAS1	NM_025074.7(FRAS1):c.8602C>T:p.Gln2868Ter	coding	Pathogenic
4	78482528	C	T	C78482528T	FRAS1	NM_025074.7(FRAS1):c.8745C>T:p.Phe2915=	coding	Benign
4	78488954	C	T	C78488954T	FRAS1	NM_025074.7(FRAS1):c.8832C>T:p.Ser2944=	coding	Benign/Likely_benign
4	78496794	A	G	A78496794G	FRAS1	NM_025074.7(FRAS1):c.8959-11A>G	noncoding	Benign
4	78496819	G	A	G78496819A	FRAS1	NM_025074.7(FRAS1):c.8973G>A:p.Thr2991=	coding	Benign
4	78496859	C	T	C78496859T	FRAS1	NM_025074.7(FRAS1):c.9013C>T:p.Gln3005Ter	coding	Pathogenic
4	78499710	T	C	T78499710C	FRAS1	NM_025074.7(FRAS1):c.9116-11T>C	noncoding	Benign
4	78499715	C	T	C78499715T	FRAS1	NM_025074.7(FRAS1):c.9116-6C>T	noncoding	Benign
4	78499716	C	G	C78499716G	FRAS1	NM_025074.7(FRAS1):c.9116-5C>G	noncoding	Benign
4	78499788	G	A	G78499788A	FRAS1	NM_025074.7(FRAS1):c.9183G>A:p.Ala3061=	coding	Benign
4	78499833	C	T	C78499833T	FRAS1	NM_025074.7(FRAS1):c.9228C>T:p.Thr3076=	coding	Benign
4	78499857	G	T	G78499857T	FRAS1	NM_025074.7(FRAS1):c.9252G>T:p.Arg3084=	coding	Benign
4	78499901	G	A	G78499901A	FRAS1	NM_025074.7(FRAS1):c.9296G>A:p.Arg3099Gln	coding	Benign/Likely_benign
4	78499923	T	A	T78499923A	FRAS1	NM_025074.7(FRAS1):c.9316+2T>A	noncoding	Pathogenic
4	78507550	C	T	C78507550T	FRAS1	NM_025074.7(FRAS1):c.9446C>T:p.Thr3149Met	coding	Benign/Likely_benign
4	78507570	G	T	G78507570T	FRAS1	NM_025074.7(FRAS1):c.9466G>T:p.Glu3156Ter	coding	Pathogenic
4	78508853	C	A	C78508853A	FRAS1	NM_025074.7(FRAS1):c.9627C>A:p.Tyr3209Ter	coding	Pathogenic
4	78508985	A	G	A78508985G	FRAS1	NM_025074.7(FRAS1):c.9759A>G:p.Pro3253=	coding	Benign
4	78511299	G	A	G78511299A	FRAS1	NM_025074.7(FRAS1):c.9806G>A:p.Arg3269Gln	coding	Benign/Likely_benign
4	78511301	A	C	A78511301C	FRAS1	NM_025074.7(FRAS1):c.9808A>C:p.Arg3270=	coding	Benign
4	78511346	C	T	C78511346T	FRAS1	NM_025074.7(FRAS1):c.9853C>T:p.His3285Tyr	coding	Benign/Likely_benign
4	78511448	C	G	C78511448G	FRAS1	NM_025074.7(FRAS1):c.9955C>G:p.Gln3319Glu	coding	Benign
4	78511495	G	A	G78511495A	FRAS1	NM_025074.7(FRAS1):c.10002G>A:p.Glu3334=	coding	Benign
4	78511501	G	A	G78511501A	FRAS1	NM_025074.7(FRAS1):c.10008G>A:p.Pro3336=	coding	Benign/Likely_benign
4	78513455	G	A	G78513455A	FRAS1	NM_025074.7(FRAS1):c.10077G>A:p.Pro3359=	coding	Benign/Likely_benign
4	78513527	C	T	C78513527T	FRAS1	NM_025074.7(FRAS1):c.10149C>T:p.Thr3383=	coding	Benign
4	78513531	T	G	T78513531G	FRAS1	NM_025074.7(FRAS1):c.10153T>G:p.Tyr3385Asp	coding	Benign
4	78513538	T	C	T78513538C	FRAS1	NM_025074.7(FRAS1):c.10160T>C:p.Leu3387Pro	coding	Benign
4	78515854	C	T	C78515854T	FRAS1	NM_025074.7(FRAS1):c.10230C>T:p.Tyr3410=	coding	Benign
4	78515893	G	T	G78515893T	FRAS1	NM_025074.7(FRAS1):c.10269G>T:p.Pro3423=	coding	Benign
4	78515902	C	T	C78515902T	FRAS1	NM_025074.7(FRAS1):c.10278C>T:p.Ile3426=	coding	Benign
4	78515936	G	A	G78515936A	FRAS1	NM_025074.7(FRAS1):c.10312G>A:p.Val3438Met	coding	Benign
4	78516001	C	T	C78516001T	FRAS1	NM_025074.7(FRAS1):c.10377C>T:p.Thr3459=	coding	Benign
4	78516024	C	T	C78516024T	FRAS1	NM_025074.7(FRAS1):c.10389+11C>T	noncoding	Benign
4	78519366	C	T	C78519366T	FRAS1	NM_025074.7(FRAS1):c.10425C>T:p.His3475=	coding	Benign/Likely_benign
4	78519435	C	T	C78519435T	FRAS1	NM_025074.7(FRAS1):c.10494C>T:p.Thr3498=	coding	Benign
4	78519480	A	G	A78519480G	FRAS1	NM_025074.7(FRAS1):c.10539A>G:p.Thr3513=	coding	Benign/Likely_benign
4	78521522	G	A	G78521522A	FRAS1	NM_025074.7(FRAS1):c.10541-1G>A	noncoding	Pathogenic
4	78521576	A	G	A78521576G	FRAS1	NM_025074.7(FRAS1):c.10594A>G:p.Ile3532Val	coding	Benign/Likely_benign
4	78521580	G	A	G78521580A	FRAS1	NM_025074.7(FRAS1):c.10598G>A:p.Arg3533Gln	coding	Benign
4	78522683	A	T	A78522683T	FRAS1	NM_025074.7(FRAS1):c.10683A>T:p.Glu3561Asp	coding	Benign
4	78522696	G	A	G78522696A	FRAS1	NM_025074.7(FRAS1):c.10696G>A:p.Val3566Ile	coding	Benign
4	78526552	C	G	C78526552G	FRAS1	NM_025074.7(FRAS1):c.10820C>G:p.Ser3607Ter	coding	Pathogenic
4	78526609	T	C	T78526609C	FRAS1	NM_025074.7(FRAS1):c.10877T>C:p.Val3626Ala	coding	Benign
4	78534471	C	T	C78534471T	FRAS1	NM_025074.7(FRAS1):c.10948C>T:p.Gln3650Ter	coding	Pathogenic
4	78534522	C	T	C78534522T	FRAS1	NM_025074.7(FRAS1):c.10999C>T:p.Gln3667Ter	coding	Pathogenic
4	78534560	C	G	C78534560G	FRAS1	NM_025074.7(FRAS1):c.11037C>G:p.Pro3679=	coding	Benign
4	78534579	C	T	C78534579T	FRAS1	NM_025074.7(FRAS1):c.11056C>T:p.Leu3686=	coding	Benign
4	78537060	C	T	C78537060T	FRAS1	NM_025074.7(FRAS1):c.11158C>T:p.Gln3720Ter	coding	Pathogenic
4	78537129	A	G	A78537129G	FRAS1	NM_025074.7(FRAS1):c.11227A>G:p.Ile3743Val	coding	Benign
4	78537201	G	A	G78537201A	FRAS1	NM_025074.7(FRAS1):c.11298+1G>A	coding	Pathogenic
4	78540558	C	T	C78540558T	FRAS1	NM_025074.7(FRAS1):c.11473C>T:p.Gln3825Ter	coding	Pathogenic
4	78540690	A	G	A78540690G	FRAS1	NM_025074.7(FRAS1):c.11605A>G:p.Ile3869Val	coding	Benign/Likely_benign
4	78540803	T	C	T78540803C	FRAS1	NM_025074.7(FRAS1):c.11718T>C:p.Ile3906=	coding	Benign/Likely_benign
4	78540805	G	T	G78540805T	FRAS1	NM_025074.7(FRAS1):c.11720G>T:p.Gly3907Val	coding	Benign
4	78540809	T	C	T78540809C	FRAS1	NM_025074.7(FRAS1):c.11724T>C:p.Ser3908=	coding	Benign/Likely_benign
4	78540940	T	C	T78540940C	FRAS1	NM_025074.7(FRAS1):c.11855T>C:p.Val3952Ala	coding	Benign
4	78540992	C	G	C78540992G	FRAS1	NM_025074.7(FRAS1):c.11907C>G:p.His3969Gln	coding	Benign/Likely_benign
4	78541124	A	G	A78541124G	FRAS1	NM_025074.7(FRAS1):c.12039A>G:p.Ter4013=	coding	Benign
4	78541157	T	A	T78541157A	FRAS1	NM_025074.7(FRAS1):c.*33T>A	noncoding	Benign
4	78541202	G	T	G78541202T	FRAS1	NM_025074.7(FRAS1):c.*78G>T	noncoding	Benign
4	78541382	G	A	G78541382A	FRAS1	NM_025074.7(FRAS1):c.*258G>A	noncoding	Benign
4	78541512	C	G	C78541512G	FRAS1	NM_025074.7(FRAS1):c.*388C>G	noncoding	Benign
4	78541627	T	C	T78541627C	FRAS1	NM_025074.7(FRAS1):c.*503T>C	noncoding	Benign
4	78541832	C	A	C78541832A	FRAS1	NM_025074.7(FRAS1):c.*708C>A	noncoding	Benign
4	78541833	G	A	G78541833A	FRAS1	NM_025074.7(FRAS1):c.*709G>A	noncoding	Benign
4	78541855	C	G	C78541855G	FRAS1	NM_025074.7(FRAS1):c.*731C>G	noncoding	Benign
4	78541875	T	G	T78541875G	FRAS1	NM_025074.7(FRAS1):c.*751T>G	noncoding	Benign
4	78541932	C	T	C78541932T	FRAS1	NM_025074.7(FRAS1):c.*808C>T	noncoding	Benign
4	78542413	G	A	G78542413A	FRAS1	NM_025074.7(FRAS1):c.*1289G>A	noncoding	Benign
4	78542425	G	A	G78542425A	FRAS1	NM_025074.7(FRAS1):c.*1301G>A	noncoding	Benign
4	78542938	G	A	G78542938A	FRAS1	NM_025074.7(FRAS1):c.*1814G>A	noncoding	Benign
4	78543119	G	T	G78543119T	FRAS1	NM_025074.7(FRAS1):c.*1995G>T	noncoding	Benign
4	78543278	C	T	C78543278T	FRAS1	NM_025074.7(FRAS1):c.*2154C>T	noncoding	Benign
4	78543494	G	A	G78543494A	FRAS1	NM_025074.7(FRAS1):c.*2370G>A	noncoding	Benign
4	78543613	T	C	T78543613C	FRAS1	NM_025074.7(FRAS1):c.*2489T>C	noncoding	Benign
4	78543824	G	A	G78543824A	FRAS1	NM_025074.7(FRAS1):c.*2700G>A	noncoding	Benign
4	78543935	T	A	T78543935A	FRAS1	NM_025074.7(FRAS1):c.*2811T>A	noncoding	Benign
4	78544216	A	G	A78544216G	FRAS1	NM_025074.7(FRAS1):c.*3092A>G	noncoding	Benign
4	78573220	G	A	G78573220A	ANXA3	NM_005139.3(ANXA3):c.56G>A:p.Ser19Asn	coding	Benign
4	78597340	T	A	T78597340A	ANXA3	NM_005139.3(ANXA3):c.656T>A:p.Ile219Asn	coding	Benign
4	78912028	C	T	C78912028T	BMP2K	NM_001040202.2(PAQR3):c.*8511G>A	coding	Benign/Likely_benign
4	79903373	A	T	A79903373T	ANTXR2	NM_058172.6(ANTXR2):c.*4056T>A	noncoding	Benign
4	79903734	A	G	A79903734G	ANTXR2	NM_058172.6(ANTXR2):c.*3695T>C	noncoding	Benign
4	79905758	A	C	A79905758C	ANTXR2	NM_058172.6(ANTXR2):c.*1671T>G	noncoding	Benign
4	79905766	C	T	C79905766T	ANTXR2	NM_058172.6(ANTXR2):c.*1663G>A	noncoding	Benign
4	79905871	G	A	G79905871A	ANTXR2	NM_058172.6(ANTXR2):c.*1558C>T	noncoding	Benign
4	79905908	T	C	T79905908C	ANTXR2	NM_058172.6(ANTXR2):c.*1521A>G	noncoding	Benign
4	79906644	A	G	A79906644G	ANTXR2	NM_058172.6(ANTXR2):c.*785T>C	noncoding	Benign
4	79906645	A	C	A79906645C	ANTXR2	NM_058172.6(ANTXR2):c.*784T>G	noncoding	Benign
4	79906752	G	A	G79906752A	ANTXR2	NM_058172.6(ANTXR2):c.*677C>T	noncoding	Benign
4	79907093	G	A	G79907093A	ANTXR2	NM_058172.6(ANTXR2):c.*336C>T	noncoding	Benign
4	79907401	G	A	G79907401A	ANTXR2	NM_058172.6(ANTXR2):c.*28C>T	noncoding	Benign
4	79977654	C	T	C79977654T	ANTXR2	NM_058172.6(ANTXR2):c.1395G>A:p.Arg465=	coding	Benign
4	79983878	C	T	C79983878T	ANTXR2	NM_058172.6(ANTXR2):c.1179G>A:p.Glu393=	coding	Pathogenic
4	79983915	T	C	T79983915C	ANTXR2	NM_058172.6(ANTXR2):c.1142A>G:p.Tyr381Cys	coding	Pathogenic
4	79984836	C	G	C79984836G	ANTXR2	NM_058172.6(ANTXR2):c.1069G>C:p.Ala357Pro	coding	Benign
4	79984837	G	C	G79984837C	ANTXR2	NM_058172.6(ANTXR2):c.1068C>G:p.Pro356=	coding	Benign
4	79984837	G	T	G79984837T	ANTXR2	NM_058172.6(ANTXR2):c.1068C>A:p.Pro356=	coding	Benign
4	80008576	A	C	A80008576C	ANTXR2	NM_058172.6(ANTXR2):c.986T>G:p.Leu329Arg	coding	Pathogenic
4	80031681	C	T	C80031681T	ANTXR2	NM_058172.6(ANTXR2):c.808G>A:p.Val270Ile	coding	Benign
4	80033463	G	A	G80033463A	ANTXR2	NM_058172.6(ANTXR2):c.796+9C>T	noncoding	Benign
4	80033497	G	A	G80033497A	ANTXR2	NM_058172.6(ANTXR2):c.771C>T:p.Tyr257=	coding	Benign
4	80036011	C	A	C80036011A	ANTXR2	NM_058172.6(ANTXR2):c.658G>T:p.Glu220Ter	coding	Pathogenic
4	80036017	A	G	A80036017G	ANTXR2	NM_058172.6(ANTXR2):c.652T>C:p.Cys218Arg	coding	Pathogenic
4	80054342	A	G	A80054342G	ANTXR2	NM_058172.6(ANTXR2):c.566T>C:p.Ile189Thr	coding	Pathogenic
4	80055924	T	G	T80055924G	ANTXR2	NM_058172.6(ANTXR2):c.378+8A>C	noncoding	Benign
4	80055979	G	A	G80055979A	ANTXR2	NM_058172.6(ANTXR2):c.331C>T:p.Arg111Cys	coding	Benign
4	80055981	T	C	T80055981C	ANTXR2	NM_058172.6(ANTXR2):c.329A>G:p.Lys110Arg	coding	Benign
4	80055986	A	G	A80055986G	ANTXR2	NM_058172.6(ANTXR2):c.324T>C:p.Asp108=	coding	Benign/Likely_benign
4	80055996	C	T	C80055996T	ANTXR2	NM_058172.6(ANTXR2):c.314G>A:p.Gly105Asp	coding	Pathogenic
4	80069511	C	T	C80069511T	ANTXR2	NM_058172.6(ANTXR2):c.225-4G>A	noncoding	Benign
4	80072427	A	G	A80072427G	ANTXR2	NM_058172.6(ANTXR2):c.134T>C:p.Leu45Pro	coding	Pathogenic
4	80072642	G	T	G80072642T	ANTXR2	NM_058172.6(ANTXR2):c.-82C>A	noncoding	Benign
4	80072879	G	C	G80072879C	ANTXR2	NM_058172.6(ANTXR2):c.-319C>G	noncoding	Benign
4	80072970	C	T	C80072970T	ANTXR2	NM_058172.6(ANTXR2):c.-410G>A	noncoding	Benign
4	80073150	T	A	T80073150A	ANTXR2	NM_058172.6(ANTXR2):c.-590A>T	noncoding	Benign
4	80200197	T	C	T80200197C	PRDM8	NM_001099403.2(PRDM8):c.117T>C:p.Ala39=	coding	Benign
4	80202184	C	A	C80202184A	PRDM8	NM_001099403.2(PRDM8):c.722C>A:p.Pro241Gln	coding	Benign
4	80202243	T	C	T80202243C	PRDM8	NM_001099403.2(PRDM8):c.781T>C:p.Phe261Leu	coding	Pathogenic
4	80202434	C	T	C80202434T	PRDM8	NM_001099403.2(PRDM8):c.972C>T:p.Gly324=	coding	Benign
4	80202449	G	T	G80202449T	PRDM8	NM_001099403.2(PRDM8):c.987G>T:p.Leu329=	coding	Benign
4	80202473	A	C	A80202473C	PRDM8	NM_001099403.2(PRDM8):c.1011A>C:p.Val337=	coding	Benign
4	80202512	C	T	C80202512T	PRDM8	NM_001099403.2(PRDM8):c.1050C>T:p.Cys350=	coding	Benign
4	80202599	C	A	C80202599A	PRDM8	NM_001099403.2(PRDM8):c.1137C>A:p.Gly379=	coding	Benign
4	80202852	C	T	C80202852T	PRDM8	NM_001099403.2(PRDM8):c.1390C>T:p.Pro464Ser	coding	Benign
4	80202909	G	T	G80202909T	PRDM8	NM_001099403.2(PRDM8):c.1447G>T:p.Ala483Ser	coding	Benign
4	80202968	G	A	G80202968A	PRDM8	NM_001099403.2(PRDM8):c.1506G>A:p.Ser502=	coding	Benign
4	80203145	C	T	C80203145T	PRDM8	NM_001099403.2(PRDM8):c.1683C>T:p.Ser561=	coding	Benign
4	80203188	C	T	C80203188T	PRDM8	NM_001099403.2(PRDM8):c.1726C>T:p.Leu576=	coding	Benign
4	80203319	G	T	G80203319T	PRDM8	NM_001099403.2(PRDM8):c.1857G>T:p.Leu619=	coding	Benign
4	80286385	T	C	T80286385C	FGF5	NM_033143.2(FGF5):c.*44T>C	coding	Pathogenic
4	81045947	C	A	C81045947A	BMP3	NM_001201.4(BMP3):c.526C>A:p.Gln176Lys	coding	Benign
4	81046086	C	T	C81046086T	BMP3	NM_001201.4(BMP3):c.665C>T:p.Thr222Met	coding	Benign
4	81046456	G	C	G81046456C	BMP3	NM_001201.4(BMP3):c.1035G>C:p.Lys345Asn	coding	Benign
4	81046464	C	T	C81046464T	BMP3	NM_001201.4(BMP3):c.1043C>T:p.Thr348Met	coding	Benign
4	81442336	A	C	A81442336C	RASGEF1B	NM_152545.3(RASGEF1B):c.969T>G:p.Thr323=	coding	Benign
4	82426113	A	G	A82426113G	HNRNPDL	NM_031372.3(HNRNPDL):c.1209T>C:p.Tyr403=	coding	Benign
4	82426523	C	G	C82426523G	HNRNPDL	NM_001207000.1(HNRNPDL):c.1022-394G>C	coding	Pathogenic
4	82427499	T	C	T82427499C	HNRNPDL	NM_031372.3(HNRNPDL):c.840A>G:p.Thr280=	coding	Benign
4	82429335	G	A	G82429335A	HNRNPDL	NM_031372.3(HNRNPDL):c.356C>T:p.Thr119Ile	coding	Benign
4	82429361	C	T	C82429361T	HNRNPDL	NM_031372.3(HNRNPDL):c.330G>A:p.Gln110=	coding	Benign
4	82429566	A	G	A82429566G	HNRNPDL	NM_031372.3(HNRNPDL):c.125T>C:p.Leu42Pro	coding	Benign
4	82429567	G	A	G82429567A	HNRNPDL	NM_031372.3(HNRNPDL):c.124C>T:p.Leu42Phe	coding	Benign
4	82429610	G	A	G82429610A	HNRNPDL	NM_031372.3(HNRNPDL):c.81C>T:p.Leu27=	coding	Benign
4	82636767	C	G	C82636767G	SCD5	NM_001037582.3(SCD5):c.626G>C:p.Trp209Ser	coding	Pathogenic
4	82827568	G	A	G82827568A	SEC31A	NM_001077207.4(SEC31A):c.3092C>T:p.Pro1031Leu	coding	Benign
4	82844490	G	A	G82844490A	SEC31A	NM_001077207.4(SEC31A):c.2522C>T:p.Pro841Leu	coding	Benign
4	82854934	A	G	A82854934G	SEC31A	NM_001077207.4(SEC31A):c.1977T>C:p.Tyr659=	coding	Benign
4	82870420	T	C	T82870420C	SEC31A	NM_001077207.4(SEC31A):c.787A>G:p.Ile263Val	coding	Benign
4	83264287	A	G	A83264287G	COQ2	NM_015697.8(COQ2):c.1178T>C:p.Val393Ala	coding	Benign
4	83264358	G	A	G83264358A	COQ2	NM_015697.8(COQ2):c.1107C>T:p.Tyr369=	coding	Benign
4	83267369	G	A	G83267369A	COQ2	NM_015697.8(COQ2):c.1101+217C>T	noncoding	Benign
4	83267371	A	C	A83267371C	COQ2	NM_015697.8(COQ2):c.1101+215T>G	noncoding	Benign
4	83267697	G	A	G83267697A	COQ2	NM_015697.8(COQ2):c.990C>T:p.Ser330=	coding	Benign
4	83267737	G	A	G83267737A	COQ2	NM_015697.8(COQ2):c.950C>T:p.Thr317Met	coding	Pathogenic
4	83268081	C	G	C83268081G	COQ2	NM_015697.8(COQ2):c.913-307G>C	noncoding	Benign
4	83269596	A	G	A83269596G	COQ2	NM_015697.8(COQ2):c.912+264T>C	noncoding	Benign
4	83269846	G	T	G83269846T	COQ2	NM_015697.8(COQ2):c.912+14C>A	noncoding	Benign
4	83269867	G	A	G83269867A	COQ2	NM_015697.8(COQ2):c.905C>T:p.Ala302Val	coding	Pathogenic
4	83269878	A	G	A83269878G	COQ2	NM_015697.8(COQ2):c.894T>C:p.Asp298=	coding	Benign
4	83269882	T	C	T83269882C	COQ2	NM_015697.8(COQ2):c.890A>G:p.Tyr297Cys	coding	Pathogenic
4	83272419	A	G	A83272419G	COQ2	NM_015697.8(COQ2):c.693-247T>C	noncoding	Benign
4	83273598	C	T	C83273598T	COQ2	NM_015697.8(COQ2):c.590G>A:p.Arg197His	coding	Pathogenic
4	83273601	T	C	T83273601C	COQ2	NM_015697.8(COQ2):c.587A>G:p.Asn196Ser	coding	Benign/Likely_benign
4	83273614	T	C	T83273614C	COQ2	NM_015697.8(COQ2):c.574A>G:p.Thr192Ala	coding	Benign/Likely_benign
4	83278973	A	C	A83278973C	COQ2	NM_015697.8(COQ2):c.545T>G:p.Met182Arg	coding	Pathogenic
4	83279081	C	T	C83279081T	COQ2	NM_015697.8(COQ2):c.437G>A:p.Ser146Asn	coding	Pathogenic
4	83284576	C	A	C83284576A	COQ2	NM_015697.8(COQ2):c.339G>T:p.Val113=	coding	Benign
4	83284719	C	A	C83284719A	COQ2	NM_015697.8(COQ2):c.196G>T:p.Val66Leu	coding	Benign
4	83284842	A	C	A83284842C	COQ2	NM_015697.8(COQ2):c.73T>G:p.Leu25Val	coding	Benign
4	83284851	T	A	T83284851A	COQ2	NM_015697.8(COQ2):c.64A>T:p.Arg22Ter	coding	Benign/Likely_benign
4	83284851	T	G	T83284851G	COQ2	NM_015697.8(COQ2):c.64A>C:p.Arg22=	coding	Benign/Likely_benign
4	83284885	C	T	C83284885T	COQ2	NM_015697.8(COQ2):c.30G>A:p.Arg10=	coding	Benign/Likely_benign
4	83284937	G	A	G83284937A	COQ2	NM_015697.8(COQ2):c.-23C>T	noncoding	Benign
4	83313106	G	T	G83313106T	HPSE	NM_001098540.3(HPSE):c.673+8C>A	noncoding	Benign
4	83455588	G	A	G83455588A	HELQ	NM_133636.4(HELQ):c.106C>T:p.Pro36Ser	coding	Benign
4	83455641	T	C	T83455641C	HELQ	NM_133636.4(HELQ):c.53A>G:p.Asn18Ser	coding	Benign
4	83462582	C	T	C83462582T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.1117G>A:p.Asp373Asn	coding	Benign/Likely_benign
4	83462748	G	A	G83462748A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.951C>T:p.Leu317=	coding	Benign
4	83462782	A	G	A83462782G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.917T>C:p.Val306Ala	coding	Benign/Likely_benign
4	83467459	A	G	A83467459G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.676T>C:p.Leu226=	coding	Benign/Likely_benign
4	83469034	G	A	G83469034A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.594C>T:p.His198=	coding	Benign
4	83470185	T	A	T83470185A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.476+18A>T	noncoding	Benign
4	83470298	G	A	G83470298A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.381C>T:p.Asn127=	coding	Benign/Likely_benign
4	83472258	C	T	C83472258T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.246G>A:p.Glu82=	coding	Benign/Likely_benign
4	83484979	G	A	G83484979A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.87+7C>T	noncoding	Benign
4	83485010	C	T	C83485010T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.63G>A:p.Gln21=	coding	Benign/Likely_benign
4	83485040	C	G	C83485040G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.33G>C:p.Ser11=	coding	Benign
4	83485052	C	T	C83485052T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.21G>A:p.Ser7=	coding	Benign
4	83485055	C	T	C83485055T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.18G>A:p.Thr6=	coding	Benign/Likely_benign
4	83485066	C	G	C83485066G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.7G>C:p.Gly3Arg	coding	Benign/Likely_benign
4	83544578	A	G	A83544578G	GPAT3	NM_032717.5(GPAT3):c.184A>G:p.Ile62Val	coding	Benign
4	84493490	C	T	C84493490T	NKX6-1	NM_006168.2(NKX6-1):c.903G>A:p.Thr301=	coding	Benign
4	84713173	C	T	C84713173T	WDFY3	NM_014991.5(WDFY3):c.8028G>A:p.Thr2676=	coding	Benign
4	84715350	G	A	G84715350A	WDFY3	NM_014991.5(WDFY3):c.7909C>T:p.Arg2637Trp	coding	Pathogenic
4	84737251	G	A	G84737251A	WDFY3	NM_014991.5(WDFY3):c.6690C>T:p.His2230=	coding	Benign
4	84783083	T	C	T84783083C	WDFY3	NM_014991.5(WDFY3):c.4063-9A>G	noncoding	Benign
4	84810074	G	A	G84810074A	WDFY3	NM_014991.6(WDFY3):c.2158C>T:p.Arg720Ter	coding	Pathogenic
4	84841185	G	A	G84841185A	WDFY3	NM_014991.5(WDFY3):c.383C>T:p.Thr128Met	coding	Benign
4	85995269	T	C	T85995269C	ARHGAP24	NM_001025616.3(ARHGAP24):c.1615T>C:p.Phe539Leu	coding	Benign
4	86000528	G	A	G86000528A	ARHGAP24	NM_001025616.3(ARHGAP24):c.2053G>A:p.Asp685Asn	coding	Benign
4	86064296	G	A	G86064296A	MAPK10	NM_138982.4(MAPK10):c.1080C>T:p.Asn360=	coding	Benign
4	86064323	G	A	G86064323A	MAPK10	NM_138982.4(MAPK10):c.1053C>T:p.Asp351=	coding	Benign
4	86067798	C	T	C86067798T	MAPK10	NM_138982.4(MAPK10):c.960G>A:p.Ala320=	coding	Benign
4	86107250	G	A	G86107250A	MAPK10	NM_138982.4(MAPK10):c.339C>T:p.Val113=	coding	Benign/Likely_benign
4	86672517	C	G	C86672517G	PTPN13	NM_080683.3(PTPN13):c.268C>G:p.Leu90Val	coding	Benign
4	86701425	C	T	C86701425T	PTPN13	NM_080683.3(PTPN13):c.819C>T:p.Ser273=	coding	Benign
4	86701574	G	A	G86701574A	PTPN13	NM_080683.3(PTPN13):c.968G>A:p.Arg323His	coding	Benign
4	86734878	A	G	A86734878G	PTPN13	NM_080683.3(PTPN13):c.2151+3A>G	noncoding	Benign
4	86751082	G	T	G86751082T	PTPN13	NM_080683.3(PTPN13):c.3124G>T:p.Asp1042Tyr	coding	Benign
4	86753030	G	A	G86753030A	PTPN13	NM_080683.3(PTPN13):c.3188G>A:p.Gly1063Glu	coding	Benign
4	86772839	T	C	T86772839C	PTPN13	NM_080683.3(PTPN13):c.5230T>C:p.Ser1744Pro	coding	Benign
4	87046247	A	G	A87046247G	AFF1	NM_001166693.2(AFF1):c.120A>G:p.Ala40=	coding	Benign
4	87090058	T	C	T87090058C	AFF1	NM_001166693.2(AFF1):c.1179T>C:p.Pro393=	coding	Benign
4	87090078	C	T	C87090078T	AFF1	NM_001166693.2(AFF1):c.1191+8C>T	noncoding	Benign
4	87114964	G	A	G87114964A	AFF1	NM_001166693.2(AFF1):c.2131G>A:p.Val711Ile	coding	Benign
4	87305285	G	A	G87305285A	HSD17B13	NM_178135.5(HSD17B13):c.836C>T:p.Ala279Val	coding	Benign
4	87310276	G	T	G87310276T	HSD17B13	NM_178135.5(HSD17B13):c.779C>A:p.Pro260Gln	coding	Benign
4	87310339	G	A	G87310339A	HSD17B13	NM_178135.5(HSD17B13):c.716C>T:p.Thr239Ile	coding	Benign
4	87315607	A	C	A87315607C	HSD17B13	NM_178135.5(HSD17B13):c.451-8T>G	noncoding	Benign
4	87610924	T	G	T87610924G	DSPP	NM_014208.3(DSPP):c.16T>G:p.Tyr6Asp	coding	Pathogenic
4	87610952	C	T	C87610952T	DSPP	NM_014208.3(DSPP):c.44C>T:p.Ala15Val	coding	Pathogenic
4	87610957	C	A	C87610957A	DSPP	NM_014208.3(DSPP):c.49C>A:p.Pro17Thr	coding	Pathogenic
4	87612105	G	T	G87612105T	DSPP	NM_014208.3(DSPP):c.52G>T:p.Val18Phe	coding	Pathogenic
4	87612186	C	T	C87612186T	DSPP	NM_014208.3(DSPP):c.133C>T:p.Gln45Ter	coding	Pathogenic
4	87612189	G	A	G87612189A	DSPP	NM_014208.3(DSPP):c.135+1G>A	coding	Pathogenic
4	87612289	T	C	T87612289C	DSPP	NM_014208.3(DSPP):c.136-33T>C	noncoding	Benign
4	87612293	T	C	T87612293C	DSPP	NM_014208.3(DSPP):c.136-29T>C	noncoding	Benign
4	87612330	A	G	A87612330G	DSPP	NM_014208.3(DSPP):c.144A>G:p.Leu48=	coding	Benign
4	87612366	G	T	G87612366T	DSPP	NM_014208.3(DSPP):c.180G>T:p.Leu60=	coding	Benign
4	87612388	A	T	A87612388T	DSPP	NM_014208.3(DSPP):c.202A>T:p.Arg68Trp	coding	Benign/Likely_benign
4	87612489	C	T	C87612489T	DSPP	NM_014208.3(DSPP):c.303C>T:p.Asn101=	coding	Benign
4	87612578	T	C	T87612578C	DSPP	NM_014208.3(DSPP):c.392T>C:p.Ile131Thr	coding	Benign
4	87612877	C	A	C87612877A	DSPP	NM_014208.3(DSPP):c.691C>A:p.Pro231Thr	coding	Benign
4	87612894	T	C	T87612894C	DSPP	NM_014208.3(DSPP):c.708T>C:p.Asp236=	coding	Benign
4	87612913	G	A	G87612913A	DSPP	NM_014208.3(DSPP):c.727G>A:p.Asp243Asn	coding	Benign
4	87612988	G	T	G87612988T	DSPP	NM_014208.3(DSPP):c.802G>T:p.Gly268Trp	coding	Benign
4	87613083	A	G	A87613083G	DSPP	NM_014208.3(DSPP):c.897A>G:p.Ser299=	coding	Benign
4	87613174	G	A	G87613174A	DSPP	NM_014208.3(DSPP):c.988G>A:p.Ala330Thr	coding	Benign
4	87613246	C	T	C87613246T	DSPP	NM_014208.3(DSPP):c.1060C>T:p.Arg354Cys	coding	Benign/Likely_benign
4	87613249	G	A	G87613249A	DSPP	NM_014208.3(DSPP):c.1063G>A:p.Val355Ile	coding	Benign
4	87615883	A	G	A87615883G	DSPP	NM_014208.3(DSPP):c.3221A>G:p.Asp1074Gly	coding	Benign
4	87616223	T	C	T87616223C	DSPP	NM_014208.3(DSPP):c.3561T>C:p.Ser1187=	coding	Benign
4	87616343	C	A	C87616343A	DSPP	NM_014208.3(DSPP):c.3681C>A:p.Asp1227Glu	coding	Benign
4	87616370	C	T	C87616370T	DSPP	NM_014208.3(DSPP):c.3708C>T:p.Asp1236=	coding	Benign
4	87616585	G	A	G87616585A	DSPP	NM_014208.3(DSPP):c.*17G>A	noncoding	Benign
4	87656493	A	G	A87656493G	DMP1	NM_004407.4(DMP1):c.1A>G:p.Met1Val	coding	Pathogenic
4	87657031	G	C	G87657031C	DMP1	NM_004407.4(DMP1):c.55-1G>C	noncoding	Pathogenic
4	87657075	G	A	G87657075A	DMP1	NM_004407.4(DMP1):c.98G>A:p.Trp33Ter	coding	Pathogenic
4	87661983	A	T	A87661983T	DMP1	NM_004407.4(DMP1):c.205A>T:p.Ser69Cys	coding	Benign
4	87662253	C	A	C87662253A	DMP1	NM_004407.4(DMP1):c.475C>A:p.Gln159Lys	coding	Benign
4	87662378	G	A	G87662378A	DMP1	NM_004407.4(DMP1):c.600G>A:p.Gly200=	coding	Benign
4	87662417	G	A	G87662417A	DMP1	NM_004407.4(DMP1):c.639G>A:p.Glu213=	coding	Benign/Likely_benign
4	87662622	C	A	C87662622A	DMP1	NM_004407.4(DMP1):c.844C>A:p.Leu282Ile	coding	Benign/Likely_benign
4	87662929	G	A	G87662929A	DMP1	NM_004407.4(DMP1):c.1151G>A:p.Ser384Asn	coding	Benign
4	87662996	C	T	C87662996T	DMP1	NM_004407.4(DMP1):c.1218C>T:p.Ser406=	coding	Benign
4	87663008	G	A	G87663008A	DMP1	NM_004407.4(DMP1):c.1230G>A:p.Glu410=	coding	Benign
4	87663166	A	G	A87663166G	DMP1	NM_004407.4(DMP1):c.1388A>G:p.Lys463Arg	coding	Benign
4	87663226	A	C	A87663226C	DMP1	NM_004407.4(DMP1):c.1448A>C:p.Asn483Thr	coding	Benign
4	87663355	G	A	G87663355A	DMP1	NM_004407.4(DMP1):c.*35G>A	noncoding	Benign
4	87663600	C	T	C87663600T	DMP1	NM_004407.4(DMP1):c.*280C>T	noncoding	Benign
4	87663649	A	C	A87663649C	DMP1	NM_004407.4(DMP1):c.*329A>C	noncoding	Benign
4	87663700	C	T	C87663700T	DMP1	NM_004407.4(DMP1):c.*380C>T	noncoding	Benign
4	87663777	T	C	T87663777C	DMP1	NM_004407.4(DMP1):c.*457T>C	noncoding	Benign
4	87663923	C	T	C87663923T	DMP1	NM_004407.4(DMP1):c.*603C>T	noncoding	Benign
4	87663927	A	G	A87663927G	DMP1	NM_004407.4(DMP1):c.*607A>G	noncoding	Benign
4	87664225	A	G	A87664225G	DMP1	NM_004407.4(DMP1):c.*905A>G	noncoding	Benign
4	87845856	G	A	G87845856A	MEPE	NM_001184694.2(MEPE):c.988G>A:p.Val330Ile	coding	Benign
4	87846039	G	A	G87846039A	MEPE	NM_001184694.2(MEPE):c.1171G>A:p.Ala391Thr	coding	Benign
4	87846053	C	G	C87846053G	MEPE	NM_001184694.2(MEPE):c.1185C>G:p.Asn395Lys	coding	Benign
4	87846108	T	G	T87846108G	MEPE	NM_001184694.2(MEPE):c.1240T>G:p.Ser414Ala	coding	Benign
4	87846214	A	C	A87846214C	MEPE	NM_001184694.2(MEPE):c.1346A>C:p.Asn449Thr	coding	Benign
4	87846309	C	T	C87846309T	MEPE	NM_001184694.2(MEPE):c.1441C>T:p.Arg481Trp	coding	Benign
4	87846329	A	C	A87846329C	MEPE	NM_001184694.2(MEPE):c.1461A>C:p.Gln487His	coding	Benign
4	87980078	A	G	A87980078G	SPP1	NM_001040058.2(SPP1):c.126A>G:p.Thr42=	coding	Benign
4	87982686	A	G	A87982686G	SPP1	NM_001040058.2(SPP1):c.735A>G:p.Leu245=	coding	Benign
4	87982853	G	A	G87982853A	SPP1	NM_001040058.2(SPP1):c.902G>A:p.Arg301His	coding	Benign
4	88007816	G	C	G88007816C	PKD2	NM_000297.4(PKD2):c.83G>C:p.Arg28Pro	coding	Benign
4	88007878	C	T	C88007878T	PKD2	NM_000297.4(PKD2):c.145C>T:p.Gln49Ter	coding	Pathogenic
4	88007994	G	A	G88007994A	PKD2	NM_000297.4(PKD2):c.261G>A:p.Trp87Ter	coding	Pathogenic
4	88008153	G	A	G88008153A	PKD2	NM_000297.4(PKD2):c.420G>A:p.Gly140=	coding	Benign
4	88008177	C	T	C88008177T	PKD2	NM_000297.4(PKD2):c.444C>T:p.Gly148=	coding	Benign/Likely_benign
4	88008301	G	A	G88008301A	PKD2	NM_000297.4(PKD2):c.568G>A:p.Ala190Thr	coding	Benign
4	88008303	G	T	G88008303T	PKD2	NM_000297.4(PKD2):c.570G>T:p.Ala190=	coding	Benign/Likely_benign
4	88008329	G	C	G88008329C	PKD2	NM_000297.4(PKD2):c.595+1G>C	coding	Pathogenic
4	88019442	C	T	C88019442T	PKD2	NM_000297.4(PKD2):c.596-16C>T	noncoding	Benign
4	88019457	G	T	G88019457T	PKD2	NM_000297.4(PKD2):c.596-1G>T	noncoding	Pathogenic
4	88019464	G	A	G88019464A	PKD2	NM_000297.4(PKD2):c.602G>A:p.Trp201Ter	coding	Pathogenic
4	88019465	G	A	G88019465A	PKD2	NM_000297.4(PKD2):c.603G>A:p.Trp201Ter	coding	Pathogenic
4	88019499	C	T	C88019499T	PKD2	NM_000297.4(PKD2):c.637C>T:p.Arg213Ter	coding	Pathogenic
4	88019572	G	A	G88019572A	PKD2	NM_000297.4(PKD2):c.709+1G>A	coding	Pathogenic
4	88019572	G	T	G88019572T	PKD2	NM_000297.4(PKD2):c.709+1G>T	coding	Pathogenic
4	88036191	G	A	G88036191A	PKD2	NM_000297.4(PKD2):c.710-29G>A	noncoding	Benign
4	88036251	C	G	C88036251G	PKD2	NM_000297.4(PKD2):c.741C>G:p.Tyr247Ter	coding	Pathogenic
4	88036254	C	A	C88036254A	PKD2	NM_000297.4(PKD2):c.744C>A:p.Tyr248Ter	coding	Pathogenic
4	88036410	T	C	T88036410C	PKD2	NM_000297.4(PKD2):c.843+57T>C	noncoding	Benign
4	88038229	G	A	G88038229A	PKD2	NM_000297.4(PKD2):c.844-22G>A	noncoding	Benign
4	88038323	C	T	C88038323T	PKD2	NM_000297.4(PKD2):c.916C>T:p.Arg306Ter	coding	Pathogenic
4	88038365	C	T	C88038365T	PKD2	NM_000297.4(PKD2):c.958C>T:p.Arg320Ter	coding	Pathogenic
4	88038371	C	T	C88038371T	PKD2	NM_000297.4(PKD2):c.964C>T:p.Arg322Trp	coding	Pathogenic/Likely_pathogenic
4	88038380	C	T	C88038380T	PKD2	NM_000297.4(PKD2):c.973C>T:p.Arg325Ter	coding	Pathogenic
4	88038488	C	T	C88038488T	PKD2	NM_000297.4(PKD2):c.1081C>T:p.Arg361Ter	coding	Pathogenic
4	88038502	G	A	G88038502A	PKD2	NM_000297.4(PKD2):c.1094+1G>A	coding	Pathogenic
4	88038593	A	G	A88038593G	PKD2	NM_000297.4(PKD2):c.1094+92A>G	noncoding	Benign
4	88043277	G	A	G88043277A	PKD2	NM_000297.4(PKD2):c.1139G>A:p.Trp380Ter	coding	Pathogenic
4	88043351	C	T	C88043351T	PKD2	NM_000297.4(PKD2):c.1213C>T:p.Gln405Ter	coding	Pathogenic
4	88043387	C	T	C88043387T	PKD2	NM_000297.4(PKD2):c.1249C>T:p.Arg417Ter	coding	Pathogenic
4	88043458	G	A	G88043458A	PKD2	NM_000297.4(PKD2):c.1319+1G>A	coding	Pathogenic
4	88046642	G	T	G88046642T	PKD2	NM_000297.4(PKD2):c.1320G>T:p.Arg440Ser	coding	Pathogenic/Likely_pathogenic
4	88046647	T	A	T88046647A	PKD2	NM_000297.4(PKD2):c.1325T>A:p.Leu442Ter	coding	Pathogenic
4	88046676	A	G	A88046676G	PKD2	NM_000297.4(PKD2):c.1354A>G:p.Ile452Val	coding	Benign/Likely_benign
4	88046681	A	G	A88046681G	PKD2	NM_000297.4(PKD2):c.1359A>G:p.Pro453=	coding	Benign/Likely_benign
4	88046687	G	A	G88046687A	PKD2	NM_000297.4(PKD2):c.1365G>A:p.Trp455Ter	coding	Pathogenic
4	88046712	C	T	C88046712T	PKD2	NM_000297.4(PKD2):c.1390C>T:p.Arg464Ter	coding	Pathogenic
4	88046780	C	G	C88046780G	PKD2	NM_000297.4(PKD2):c.1458C>G:p.Tyr486Ter	coding	Pathogenic
4	88046802	G	T	G88046802T	PKD2	NM_000297.4(PKD2):c.1480G>T:p.Glu494Ter	coding	Pathogenic
4	88046854	A	T	A88046854T	PKD2	NM_000297.4(PKD2):c.1532A>T:p.Asp511Val	coding	Pathogenic
4	88046868	G	T	G88046868T	PKD2	NM_000297.4(PKD2):c.1546G>T:p.Val516Leu	coding	Benign/Likely_benign
4	88046879	G	C	G88046879C	PKD2	NM_000297.4(PKD2):c.1548+9G>C	noncoding	Benign/Likely_benign
4	88051990	G	A	G88051990A	PKD2	NM_000297.4(PKD2):c.1549-1G>A	noncoding	Pathogenic
4	88052029	A	T	A88052029T	PKD2	NM_000297.4(PKD2):c.1587A>T:p.Thr529=	coding	Benign
4	88052059	G	C	G88052059C	PKD2	NM_000297.4(PKD2):c.1617G>C:p.Leu539=	coding	Benign/Likely_benign
4	88052111	C	T	C88052111T	PKD2	NM_000297.4(PKD2):c.1669C>T:p.Gln557Ter	coding	Pathogenic
4	88056143	C	T	C88056143T	PKD2	NM_000297.4(PKD2):c.1774C>T:p.Arg592Ter	coding	Pathogenic
4	88056199	G	A	G88056199A	PKD2	NM_000297.4(PKD2):c.1830G>A:p.Ala610=	coding	Benign/Likely_benign
4	88056272	G	A	G88056272A	PKD2	NM_000297.4(PKD2):c.1898+5G>A	noncoding	Pathogenic/Likely_pathogenic
4	88058104	G	A	G88058104A	PKD2	NM_000297.4(PKD2):c.2019+1G>A	coding	Pathogenic/Likely_pathogenic
4	88062005	G	C	G88062005C	PKD2	NM_000297.4(PKD2):c.2118+1G>C	coding	Pathogenic
4	88065339	T	C	T88065339C	PKD2	NM_000297.4(PKD2):c.2119-35T>C	noncoding	Benign
4	88065389	T	C	T88065389C	PKD2	NM_000297.4(PKD2):c.2134T>C:p.Leu712=	coding	Benign/Likely_benign
4	88065479	C	T	C88065479T	PKD2	NM_000297.4(PKD2):c.2224C>T:p.Arg742Ter	coding	Pathogenic
4	88065760	A	G	A88065760G	PKD2	NM_000297.4(PKD2):c.2241-2A>G	noncoding	Pathogenic
4	88065763	A	T	A88065763T	PKD2	NM_000297.4(PKD2):c.2242A>T:p.Lys748Ter	coding	Pathogenic
4	88065807	C	A	C88065807A	PKD2	NM_000297.4(PKD2):c.2286C>A:p.Tyr762Ter	coding	Pathogenic
4	88065807	C	T	C88065807T	PKD2	NM_000297.4(PKD2):c.2286C>T:p.Tyr762=	coding	Benign
4	88065902	G	A	G88065902A	PKD2	NM_000297.4(PKD2):c.2358+23G>A	noncoding	Benign
4	88067946	C	T	C88067946T	PKD2	NM_000297.4(PKD2):c.2407C>T:p.Arg803Ter	coding	Pathogenic
4	88067958	C	T	C88067958T	PKD2	NM_000297.4(PKD2):c.2419C>T:p.Arg807Ter	coding	Pathogenic
4	88067959	G	A	G88067959A	PKD2	NM_000297.4(PKD2):c.2420G>A:p.Arg807Gln	coding	Benign/Likely_benign
4	88067979	G	T	G88067979T	PKD2	NM_000297.4(PKD2):c.2440G>T:p.Glu814Ter	coding	Pathogenic
4	88074805	C	T	C88074805T	PKD2	NM_000297.4(PKD2):c.2523-7C>T	noncoding	Benign
4	88074811	G	A	G88074811A	PKD2	NM_000297.4(PKD2):c.2523-1G>A	noncoding	Pathogenic
4	88074822	C	T	C88074822T	PKD2	NM_000297.4(PKD2):c.2533C>T:p.Arg845Ter	coding	Pathogenic
4	88074903	C	T	C88074903T	PKD2	NM_000297.4(PKD2):c.2614C>T:p.Arg872Ter	coding	Pathogenic
4	88075601	A	G	A88075601G	PKD2	NM_000297.4(PKD2):c.2814A>G:p.Gln938=	coding	Benign/Likely_benign
4	88075950	C	T	C88075950T	PKD2	NM_000297.4(PKD2):c.*256C>T	noncoding	Benign
4	88076724	G	A	G88076724A	PKD2	NM_000297.4(PKD2):c.*1030G>A	noncoding	Benign
4	88076931	G	A	G88076931A	PKD2	NM_000297.4(PKD2):c.*1237G>A	noncoding	Benign
4	88131812	G	A	G88131812A	ABCG2	NM_004827.3(ABCG2):c.369C>T:p.Tyr123=	coding	Benign
4	88132638	G	A	G88132638A	ABCG2	NM_004827.3(ABCG2):c.204-3C>T	noncoding	Benign
4	88265010	C	T	C88265010T	PPM1K	NM_152542.5(PPM1K):c.978G>A:p.Val326=	coding	Benign
4	88265027	C	T	C88265027T	PPM1K	NM_152542.5(PPM1K):c.961G>A:p.Glu321Lys	coding	Benign
4	88277203	T	C	T88277203C	PPM1K	NM_152542.5(PPM1K):c.481A>G:p.Thr161Ala	coding	Benign
4	88278245	G	A	G88278245A	PPM1K	NM_152542.5(PPM1K):c.339C>T:p.Phe113=	coding	Benign
4	88390731	G	A	G88390731A	HERC6	NM_017912.4(HERC6):c.516G>A:p.Pro172=	coding	Benign
4	88423879	G	A	G88423879A	HERC6	NM_017912.4(HERC6):c.1733G>A:p.Arg578Gln	coding	Benign
4	88424608	C	T	C88424608T	HERC6	NM_017912.4(HERC6):c.1841C>T:p.Thr614Ile	coding	Benign
4	88436931	C	A	C88436931A	HERC6	NM_017912.4(HERC6):c.2444C>A:p.Ala815Asp	coding	Benign
4	88442262	T	C	T88442262C	HERC6	NM_017912.4(HERC6):c.2871T>C:p.His957=	coding	Benign
4	88442360	C	A	C88442360A	HERC6	NM_017912.4(HERC6):c.2969C>A:p.Ser990Tyr	coding	Benign
4	88442452	C	T	C88442452T	HERC6	NM_017912.4(HERC6):c.3061C>T:p.Gln1021Ter	coding	Benign
4	88463975	G	A	G88463975A	HERC5	NM_016323.4(HERC5):c.901G>A:p.Ala301Thr	coding	Benign
4	88463979	G	C	G88463979C	HERC5	NM_016323.4(HERC5):c.905G>C:p.Cys302Ser	coding	Benign
4	88469243	G	A	G88469243A	HERC5	NM_016323.4(HERC5):c.1221G>A:p.Arg407=	coding	Benign
4	88521653	A	G	A88521653G	PIGY	NM_032906.5(PYURF):c.*235T>C	coding	Pathogenic
4	88523797	C	T	C88523797T	PIGY	NM_001042616.2(PIGY):c.-540G>A	noncoding	Pathogenic
4	88732091	G	A	G88732091A	FAM13A	NM_014883.4(FAM13A):c.2754C>T:p.Asp918=	coding	Benign
4	89020506	A	G	A89020506G	FAM13A	NM_014883.4(FAM13A):c.381T>C:p.Ser127=	coding	Benign
4	89249086	G	T	G89249086T	GPRIN3	NM_198281.3(GPRIN3):c.1025C>A:p.Ala342Glu	coding	Benign
4	89724398	C	T	C89724398T	SNCA	NM_000345.4(SNCA):c.*2230G>A	noncoding	Benign
4	89724520	T	A	T89724520A	SNCA	NM_000345.4(SNCA):c.*2108A>T	noncoding	Benign
4	89724523	C	T	C89724523T	SNCA	NM_000345.4(SNCA):c.*2105G>A	noncoding	Benign
4	89724732	G	A	G89724732A	SNCA	NM_000345.4(SNCA):c.*1896C>T	noncoding	Benign
4	89724951	G	A	G89724951A	SNCA	NM_000345.4(SNCA):c.*1677C>T	noncoding	Benign
4	89725341	C	T	C89725341T	SNCA	NM_000345.4(SNCA):c.*1287G>A	noncoding	Benign
4	89726035	G	T	G89726035T	SNCA	NM_000345.4(SNCA):c.*593C>A	noncoding	Benign
4	89726127	G	A	G89726127A	SNCA	NM_000345.4(SNCA):c.*501C>T	noncoding	Benign
4	89726379	C	T	C89726379T	SNCA	NM_000345.4(SNCA):c.*249G>A	noncoding	Benign
4	89726455	C	T	C89726455T	SNCA	NM_000345.4(SNCA):c.*173G>A	noncoding	Benign
4	89726489	A	C	A89726489C	SNCA	NM_000345.4(SNCA):c.*139T>G	noncoding	Benign
4	89726643	G	A	G89726643A	SNCA	NM_000345.4(SNCA):c.408C>T:p.Tyr136=	coding	Benign
4	89822265	T	C	T89822265C	SNCA	NM_000345.4(SNCA):c.287A>G:p.Lys96Arg	coding	Benign
4	89822309	T	C	T89822309C	SNCA	NM_000345.4(SNCA):c.243A>G:p.Thr81=	coding	Benign
4	89828149	C	T	C89828149T	SNCA	NM_000345.4(SNCA):c.157G>A:p.Ala53Thr	coding	Pathogenic
4	89828154	C	T	C89828154T	SNCA	NM_000345.4(SNCA):c.152G>A:p.Gly51Asp	coding	Pathogenic
4	89828170	C	T	C89828170T	SNCA	NM_000345.4(SNCA):c.136G>A:p.Glu46Lys	coding	Pathogenic
4	89835536	G	A	G89835536A	SNCA	NM_000345.4(SNCA):c.121+11C>T	noncoding	Benign
4	89835580	C	G	C89835580G	SNCA	NM_000345.4(SNCA):c.88G>C:p.Ala30Pro	coding	Pathogenic
4	89895101	G	A	G89895101A	MMRN1	NM_007351.3(MMRN1):c.130G>A:p.Val44Ile	coding	Benign
4	89895490	C	T	C89895490T	MMRN1	NM_007351.3(MMRN1):c.519C>T:p.Gly173=	coding	Benign
4	89909322	T	C	T89909322C	MMRN1	NM_007351.3(MMRN1):c.670T>C:p.Leu224=	coding	Benign
4	89909402	A	T	A89909402T	MMRN1	NM_007351.3(MMRN1):c.743+7A>T	noncoding	Benign
4	89912033	C	T	C89912033T	MMRN1	NM_007351.3(MMRN1):c.833C>T:p.Pro278Leu	coding	Benign
4	89923160	C	T	C89923160T	MMRN1	NM_007351.3(MMRN1):c.851-8C>T	noncoding	Benign
4	89935075	T	C	T89935075C	MMRN1	NM_007351.3(MMRN1):c.1395T>C:p.Asn465=	coding	Benign
4	89936101	A	G	A89936101G	MMRN1	NM_007351.3(MMRN1):c.2421A>G:p.Ala807=	coding	Benign
4	89936396	T	C	T89936396C	MMRN1	NM_007351.3(MMRN1):c.2716T>C:p.Leu906=	coding	Benign
4	91085978	T	C	T91085978C	CCSER1	NM_001145065.1(CCSER1):c.2201T>C:p.Val734Ala	coding	Benign
4	93085040	T	C	T93085040C	GRID2	NM_001510.4(GRID2):c.290T>C:p.Ile97Thr	coding	Benign
4	93085050	G	A	G93085050A	GRID2	NM_001510.4(GRID2):c.300G>A:p.Thr100=	coding	Benign
4	93085233	A	T	A93085233T	GRID2	NM_001510.4(GRID2):c.483A>T:p.Thr161=	coding	Benign
4	93085289	T	C	T93085289C	GRID2	NM_001510.4(GRID2):c.529+10T>C	noncoding	Benign
4	93110786	C	T	C93110786T	GRID2	NM_001510.4(GRID2):c.568C>T:p.Gln190Ter	coding	Pathogenic
4	93216803	G	A	G93216803A	GRID2	NM_001510.4(GRID2):c.855G>A:p.Arg285=	coding	Benign
4	93238448	T	C	T93238448C	GRID2	NM_001510.4(GRID2):c.1203T>C:p.Leu401=	coding	Benign
4	93422890	C	T	C93422890T	GRID2	NM_001510.4(GRID2):c.1467C>T:p.Tyr489=	coding	Benign
4	93422905	C	T	C93422905T	GRID2	NM_001510.4(GRID2):c.1482C>T:p.His494=	coding	Benign
4	93490658	G	A	G93490658A	GRID2	NM_001510.4(GRID2):c.1878G>A:p.Thr626=	coding	Benign
4	93490741	C	G	C93490741G	GRID2	NM_001510.4(GRID2):c.1961C>G:p.Ala654Gly	coding	Pathogenic
4	93515324	C	T	C93515324T	GRID2	NM_001510.4(GRID2):c.2106C>T:p.Asp702=	coding	Benign
4	93515346	C	T	C93515346T	GRID2	NM_001510.4(GRID2):c.2128C>T:p.Arg710Trp	coding	Pathogenic
4	93626293	G	A	G93626293A	GRID2	NM_001510.4(GRID2):c.2218G>A:p.Val740Ile	coding	Benign
4	93829340	C	G	C93829340G	ATOH1	NM_005172.2(ATOH1):c.414C>G:p.Asp138Glu	coding	Benign
4	93829499	C	T	C93829499T	ATOH1	NM_005172.2(ATOH1):c.573C>T:p.Asn191=	coding	Benign
4	93829637	C	A	C93829637A	ATOH1	NM_005172.2(ATOH1):c.711C>A:p.His237Gln	coding	Benign
4	93829734	G	C	G93829734C	ATOH1	NM_005172.2(ATOH1):c.808G>C:p.Gly270Arg	coding	Benign
4	94233997	A	G	A94233997G	SMARCAD1	NM_020159.5(SMARCAD1):c.412A>G:p.Met138Val	coding	Benign
4	94252659	A	G	A94252659G	SMARCAD1	NM_020159.5(SMARCAD1):c.933A>G:p.Glu311=	coding	Benign
4	94252777	C	T	C94252777T	SMARCAD1	NM_020159.5(SMARCAD1):c.1051C>T:p.Pro351Ser	coding	Benign
4	94253672	G	A	G94253672A	SMARCAD1	NM_020159.5(SMARCAD1):c.1281+665G>A	coding	Pathogenic
4	94253672	G	T	G94253672T	SMARCAD1	NM_020159.5(SMARCAD1):c.1281+665G>T	coding	Pathogenic
4	94253673	T	C	T94253673C	SMARCAD1	NM_020159.5(SMARCAD1):c.1281+666T>C	noncoding	Pathogenic
4	94253674	A	T	A94253674T	SMARCAD1	NM_001128430.2(SMARCAD1):c.1281+667A>T	noncoding	Pathogenic
4	94253676	G	C	G94253676C	SMARCAD1	NM_020159.5(SMARCAD1):c.1281+669G>C	noncoding	Pathogenic
4	94277078	C	G	C94277078G	SMARCAD1	NM_020159.5(SMARCAD1):c.2001C>G:p.Leu667=	coding	Benign
4	94278700	T	C	T94278700C	SMARCAD1	NM_020159.5(SMARCAD1):c.2263T>C:p.Phe755Leu	coding	Pathogenic
4	94284996	G	A	G94284996A	SMARCAD1	NM_020159.5(SMARCAD1):c.2946G>A:p.Thr982=	coding	Benign
4	94299483	G	C	G94299483C	HPGDS	NM_014485.3(HPGDS):c.597C>G:p.Leu199=	coding	Benign
4	94299521	C	T	C94299521T	HPGDS	NM_014485.3(HPGDS):c.559G>A:p.Val187Ile	coding	Benign
4	94302198	A	G	A94302198G	HPGDS	NM_014485.3(HPGDS):c.383T>C:p.Met128Thr	coding	Benign
4	94308699	T	C	T94308699C	HPGDS	NM_014485.3(HPGDS):c.271A>G:p.Ile91Val	coding	Benign
4	94334588	T	C	T94334588C	HPGDS	NM_014485.3(HPGDS):c.42A>G:p.Arg14=	coding	Benign
4	94575789	G	A	G94575789A	PDLIM5	NM_006457.5(PDLIM5):c.465G>A:p.Ala155=	coding	Benign
4	94875884	A	G	A94875884G	BMPR1B	NM_001203.3(BMPR1B):c.-129A>G	noncoding	Benign
4	94875896	T	C	T94875896C	BMPR1B	NM_001203.3(BMPR1B):c.-117T>C	noncoding	Benign
4	95104515	C	T	C95104515T	BMPR1B	NM_001203.3(BMPR1B):c.91C>T:p.Arg31Cys	coding	Pathogenic
4	95104516	G	A	G95104516A	BMPR1B	NM_001203.3(BMPR1B):c.92G>A:p.Arg31His	coding	Benign
4	95114733	T	C	T95114733C	BMPR1B	NM_001203.3(BMPR1B):c.157T>C:p.Cys53Arg	coding	Pathogenic
4	95115676	C	T	C95115676T	BMPR1B	NM_001203.3(BMPR1B):c.247-9C>T	noncoding	Benign/Likely_benign
4	95115681	A	G	A95115681G	BMPR1B	NM_001203.3(BMPR1B):c.247-4A>G	noncoding	Benign
4	95115738	C	T	C95115738T	BMPR1B	NM_001203.3(BMPR1B):c.300C>T:p.Asn100=	coding	Benign/Likely_benign
4	95123878	G	A	G95123878A	BMPR1B	NM_001203.3(BMPR1B):c.418G>A:p.Val140Ile	coding	Benign/Likely_benign
4	95123905	C	T	C95123905T	BMPR1B	NM_001203.3(BMPR1B):c.445C>T:p.Arg149Trp	coding	Benign
4	95124982	G	A	G95124982A	BMPR1B	NM_001203.3(BMPR1B):c.447-1G>A	noncoding	Pathogenic
4	95129875	T	A	T95129875A	BMPR1B	NM_001203.3(BMPR1B):c.599T>A:p.Ile200Lys	coding	Pathogenic
4	95129916	C	A	C95129916A	BMPR1B	NM_001203.3(BMPR1B):c.640C>A:p.Arg214Ser	coding	Pathogenic
4	95129933	G	A	G95129933A	BMPR1B	NM_001203.3(BMPR1B):c.657G>A:p.Trp219Ter	coding	Pathogenic
4	95129981	C	T	C95129981T	BMPR1B	NM_001203.3(BMPR1B):c.705C>T:p.Thr235=	coding	Benign
4	95131327	C	T	C95131327T	BMPR1B	NM_001203.3(BMPR1B):c.891C>T:p.Asp297=	coding	Benign
4	95131411	A	C	A95131411C	BMPR1B	NM_001203.3(BMPR1B):c.975A>C:p.Lys325Asn	coding	Pathogenic
4	95131501	T	A	T95131501A	BMPR1B	NM_001203.3(BMPR1B):c.1065T>A:p.Val355=	coding	Benign/Likely_benign
4	95148776	A	G	A95148776G	BMPR1B	NM_001203.3(BMPR1B):c.1105A>G:p.Asn369Asp	coding	Benign
4	95148783	G	T	G95148783T	BMPR1B	NM_001203.3(BMPR1B):c.1112G>T:p.Arg371Leu	coding	Benign
4	95154540	T	C	T95154540C	BMPR1B	NM_001203.3(BMPR1B):c.1384-8T>C	noncoding	Benign
4	95154620	C	T	C95154620T	BMPR1B	NM_001203.3(BMPR1B):c.1456C>T:p.Arg486Trp	coding	Pathogenic
4	95154621	G	A	G95154621A	BMPR1B	NM_001203.3(BMPR1B):c.1457G>A:p.Arg486Gln	coding	Pathogenic
4	95154640	C	T	C95154640T	BMPR1B	NM_001203.3(BMPR1B):c.1476C>T:p.Ala492=	coding	Benign
4	95154722	C	T	C95154722T	BMPR1B	NM_001203.3(BMPR1B):c.*49C>T	noncoding	Benign
4	95154799	G	A	G95154799A	BMPR1B	NM_001203.3(BMPR1B):c.*126G>A	noncoding	Benign
4	95154814	C	T	C95154814T	BMPR1B	NM_001203.3(BMPR1B):c.*141C>T	noncoding	Benign
4	95154868	C	T	C95154868T	BMPR1B	NM_001203.3(BMPR1B):c.*195C>T	noncoding	Benign
4	95154869	A	G	A95154869G	BMPR1B	NM_001203.3(BMPR1B):c.*196A>G	noncoding	Benign
4	95155160	G	T	G95155160T	BMPR1B	NM_001203.3(BMPR1B):c.*487G>T	noncoding	Benign
4	95155314	C	T	C95155314T	BMPR1B	NM_001203.3(BMPR1B):c.*641C>T	noncoding	Benign
4	95155533	T	C	T95155533C	BMPR1B	NM_001203.3(BMPR1B):c.*860T>C	noncoding	Benign
4	95155662	A	G	A95155662G	BMPR1B	NM_001203.3(BMPR1B):c.*989A>G	noncoding	Benign
4	95155786	G	A	G95155786A	BMPR1B	NM_001203.3(BMPR1B):c.*1113G>A	noncoding	Benign
4	95155876	A	G	A95155876G	BMPR1B	NM_001203.3(BMPR1B):c.*1203A>G	noncoding	Benign
4	95156034	G	A	G95156034A	BMPR1B	NM_001203.3(BMPR1B):c.*1361G>A	noncoding	Benign
4	95156044	A	G	A95156044G	BMPR1B	NM_001203.3(BMPR1B):c.*1371A>G	noncoding	Benign
4	95156232	A	G	A95156232G	BMPR1B	NM_001203.3(BMPR1B):c.*1559A>G	noncoding	Benign
4	95156333	T	A	T95156333A	BMPR1B	NM_001203.3(BMPR1B):c.*1660T>A	noncoding	Benign
4	95156572	A	G	A95156572G	BMPR1B	NM_001203.3(BMPR1B):c.*1899A>G	noncoding	Benign
4	95156644	C	G	C95156644G	BMPR1B	NM_001203.3(BMPR1B):c.*1971C>G	noncoding	Benign
4	95156645	C	A	C95156645A	BMPR1B	NM_001203.3(BMPR1B):c.*1972C>A	noncoding	Benign
4	95156829	C	T	C95156829T	BMPR1B	NM_001203.3(BMPR1B):c.*2156C>T	noncoding	Benign
4	95157005	T	A	T95157005A	BMPR1B	NM_001203.3(BMPR1B):c.*2332T>A	noncoding	Benign
4	95157023	C	T	C95157023T	BMPR1B	NM_001203.3(BMPR1B):c.*2350C>T	noncoding	Benign
4	95157084	T	A	T95157084A	BMPR1B	NM_001203.3(BMPR1B):c.*2411T>A	noncoding	Benign
4	95157126	A	G	A95157126G	BMPR1B	NM_001203.3(BMPR1B):c.*2453A>G	noncoding	Benign
4	95157449	A	G	A95157449G	BMPR1B	NM_001203.3(BMPR1B):c.*2776A>G	noncoding	Benign
4	95157635	T	G	T95157635G	BMPR1B	NM_001203.3(BMPR1B):c.*2962T>G	noncoding	Benign
4	95157894	T	C	T95157894C	BMPR1B	NM_001203.3(BMPR1B):c.*3221T>C	noncoding	Benign
4	95157928	C	G	C95157928G	BMPR1B	NM_001203.3(BMPR1B):c.*3255C>G	noncoding	Benign
4	95157950	A	T	A95157950T	BMPR1B	NM_001203.3(BMPR1B):c.*3277A>T	noncoding	Benign
4	95157976	G	A	G95157976A	BMPR1B	NM_001203.3(BMPR1B):c.*3303G>A	noncoding	Benign
4	95158001	A	G	A95158001G	BMPR1B	NM_001203.3(BMPR1B):c.*3328A>G	noncoding	Benign
4	95158162	A	G	A95158162G	BMPR1B	NM_001203.3(BMPR1B):c.*3489A>G	noncoding	Benign
4	95158291	G	A	G95158291A	BMPR1B	NM_001203.3(BMPR1B):c.*3618G>A	noncoding	Benign
4	95158352	G	A	G95158352A	BMPR1B	NM_001203.3(BMPR1B):c.*3679G>A	noncoding	Benign
4	95169360	G	A	G95169360A	UNC5C	NM_003728.4(UNC5C):c.2670C>T:p.Gly890=	coding	Benign
4	95840829	A	G	A95840829G	PDHA2	NM_005390.5(PDHA2):c.679A>G:p.Met227Val	coding	Pathogenic
4	98352484	C	A	C98352484A	RAP1GDS1	NM_001100427.2(RAP1GDS1):c.244C>A:p.Arg82=	coding	Benign
4	98472597	G	A	G98472597A	TSPAN5	NM_005723.4(TSPAN5):c.742-10C>T	noncoding	Benign
4	98478706	G	A	G98478706A	TSPAN5	NM_005723.4(TSPAN5):c.555C>T:p.Ser185=	coding	Benign
4	99061290	A	G	A99061290G	METAP1	NM_015143.3(METAP1):c.1134A>G:p.Ala378=	coding	Benign
4	99280138	A	G	A99280138G	ADH1A	NM_000667.4(ADH1A):c.964+6T>C	noncoding	Benign
4	99310760	T	C	T99310760C	ADH1B	NM_000668.6(ADH1B):c.1103+5A>G	noncoding	Benign
4	99313983	C	A	C99313983A	ADH1B	NM_000668.6(ADH1B):c.666G>T:p.Ala222=	coding	Benign
4	99314037	G	A	G99314037A	ADH1B	NM_000668.6(ADH1B):c.612C>T:p.Val204=	coding	Benign
4	99315970	C	T	C99315970T	ADH1B	NM_000668.6(ADH1B):c.495G>A:p.Ser165=	coding	Benign
4	99318111	A	G	A99318111G	ADH1B	NM_000668.6(ADH1B):c.194T>C:p.Ile65Thr	coding	Benign
4	99318187	A	G	A99318187G	ADH1B	NM_000668.6(ADH1B):c.121-3T>C	noncoding	Benign
4	99318859	A	G	A99318859G	ADH1B	NM_000668.6(ADH1B):c.46T>C:p.Trp16Arg	coding	Benign
4	99339626	G	T	G99339626T	ADH1C	NM_000669.5(ADH1C):c.1054C>A:p.Pro352Thr	coding	Benign
4	99344907	G	A	G99344907A	ADH1C	NM_000669.5(ADH1C):c.522C>T:p.Gly174=	coding	Benign
4	99345000	G	A	G99345000A	ADH1C	NM_000669.5(ADH1C):c.429C>T:p.Gly143=	coding	Benign
4	99347122	C	T	C99347122T	ADH1C	NM_000669.5(ADH1C):c.143G>A:p.Arg48His	coding	Benign
4	99420682	T	C	T99420682C	ADH7	NM_000673.4(ADH7):c.712A>G:p.Lys238Glu	coding	Benign
4	99553814	C	T	C99553814T	TRMT10A	NM_001134665.3(TRMT10A):c.616G>A:p.Gly206Arg	coding	Pathogenic
4	99558191	C	T	C99558191T	TRMT10A	NM_001134665.3(TRMT10A):c.206G>A:p.Arg69His	coding	Benign
4	99559260	C	A	C99559260A	TRMT10A	NM_001134665.3(TRMT10A):c.79G>T:p.Glu27Ter	coding	Pathogenic
4	99564087	G	C	G99564087C	MTTP	NM_000253.3(MTTP):c.-252G>C	noncoding	Benign
4	99564098	G	A	G99564098A	MTTP	NM_000253.3(MTTP):c.-241G>A	coding	Benign
4	99574948	C	G	C99574948G	MTTP	NM_000253.3(MTTP):c.39C>G:p.Ser13=	coding	Benign
4	99581938	G	A	G99581938A	MTTP	NM_000253.3(MTTP):c.95G>A:p.Arg32Gln	coding	Benign
4	99581979	C	G	C99581979G	MTTP	NM_000253.3(MTTP):c.136C>G:p.Arg46Gly	coding	Benign/Likely_benign
4	99583409	G	C	G99583409C	MTTP	NM_000253.3(MTTP):c.285G>C:p.Gln95His	coding	Benign
4	99583418	G	C	G99583418C	MTTP	NM_000253.3(MTTP):c.294G>C:p.Glu98Asp	coding	Benign/Likely_benign
4	99583431	A	T	A99583431T	MTTP	NM_000253.3(MTTP):c.307A>T:p.Lys103Ter	coding	Pathogenic/Likely_pathogenic
4	99583507	T	C	T99583507C	MTTP	NM_000253.3(MTTP):c.383T>C:p.Ile128Thr	coding	Benign/Likely_benign
4	99589702	T	C	T99589702C	MTTP	NM_000253.3(MTTP):c.453T>C:p.Gly151=	coding	Benign
4	99589739	A	G	A99589739G	MTTP	NM_000253.3(MTTP):c.490A>G:p.Thr164Ala	coding	Benign/Likely_benign
4	99589746	A	G	A99589746G	MTTP	NM_000253.3(MTTP):c.497A>G:p.Asn166Ser	coding	Benign/Likely_benign
4	99591235	G	A	G99591235A	MTTP	NM_000253.3(MTTP):c.502G>A:p.Val168Ile	coding	Benign/Likely_benign
4	99591255	T	C	T99591255C	MTTP	NM_000253.3(MTTP):c.522T>C:p.Cys174=	coding	Benign
4	99591692	T	C	T99591692C	MTTP	NM_000253.3(MTTP):c.660T>C:p.Tyr220=	coding	Benign
4	99591762	C	G	C99591762G	MTTP	NM_000253.3(MTTP):c.730C>G:p.Gln244Glu	coding	Benign
4	99594865	C	G	C99594865G	MTTP	NM_000253.3(MTTP):c.891C>G:p.His297Gln	coding	Benign/Likely_benign
4	99597090	C	A	C99597090A	MTTP	NM_000253.3(MTTP):c.933C>A:p.Thr311=	coding	Benign
4	99597126	T	C	T99597126C	MTTP	NM_000253.3(MTTP):c.969T>C:p.Ala323=	coding	Benign
4	99600648	A	C	A99600648C	MTTP	NM_000253.3(MTTP):c.1151A>C:p.Asp384Ala	coding	Benign
4	99601606	G	A	G99601606A	MTTP	NM_000253.3(MTTP):c.1237-1G>A	noncoding	Pathogenic
4	99601674	T	A	T99601674A	MTTP	NM_000253.3(MTTP):c.1304T>A:p.Leu435His	coding	Pathogenic
4	99606804	A	G	A99606804G	MTTP	NM_000253.3(MTTP):c.1401A>G:p.Lys467=	coding	Benign
4	99606967	T	A	T99606967A	MTTP	NM_000253.3(MTTP):c.1557+7T>A	noncoding	Benign/Likely_benign
4	99608827	G	A	G99608827A	MTTP	NM_000253.3(MTTP):c.1619G>A:p.Arg540His	coding	Pathogenic
4	99608939	C	T	C99608939T	MTTP	NM_000253.3(MTTP):c.1731C>T:p.Ala577=	coding	Benign
4	99608977	G	T	G99608977T	MTTP	NM_000253.3(MTTP):c.1769G>T:p.Ser590Ile	coding	Pathogenic
4	99608986	C	T	C99608986T	MTTP	NM_000253.3(MTTP):c.1769+9C>T	noncoding	Benign
4	99608991	C	T	C99608991T	MTTP	NM_000253.3(MTTP):c.1769+14C>T	noncoding	Benign
4	99611156	C	T	C99611156T	MTTP	NM_000253.3(MTTP):c.1783C>T:p.Arg595Ter	coding	Pathogenic
4	99611241	G	A	G99611241A	MTTP	NM_000253.3(MTTP):c.1867+1G>A	coding	Pathogenic
4	99611445	G	A	G99611445A	MTTP	NM_000253.3(MTTP):c.1981G>A:p.Gly661Ser	coding	Benign/Likely_benign
4	99612966	G	A	G99612966A	MTTP	NM_000253.3(MTTP):c.2043G>A:p.Glu681=	coding	Benign
4	99618993	G	A	G99618993A	MTTP	NM_000253.3(MTTP):c.2237G>A:p.Gly746Glu	coding	Pathogenic
4	99619085	C	T	C99619085T	MTTP	NM_000253.4(MTTP):c.2329C>T:p.Arg777Ter	coding	Pathogenic
4	99619094	A	T	A99619094T	MTTP	NM_000253.3(MTTP):c.2338A>T:p.Asn780Tyr	coding	Pathogenic
4	99622678	C	T	C99622678T	MTTP	NM_000253.4(MTTP):c.2515C>T:p.Gln839Ter	coding	Pathogenic
4	99622756	G	T	G99622756T	MTTP	NM_000253.3(MTTP):c.2593G>T:p.Gly865Ter	coding	Pathogenic
4	99622799	A	G	A99622799G	MTTP	NM_000253.3(MTTP):c.2636A>G:p.Lys879Arg	coding	Benign/Likely_benign
4	99622961	G	C	G99622961C	MTTP	NM_000253.4(MTTP):c.*113G>C	noncoding	Benign
4	99623031	C	T	C99623031T	MTTP	NM_000253.3(MTTP):c.*183C>T	noncoding	Benign
4	99623115	A	C	A99623115C	MTTP	NM_000253.4(MTTP):c.*267A>C	noncoding	Benign
4	99623127	C	G	C99623127G	MTTP	NM_000253.3(MTTP):c.*279C>G	noncoding	Benign
4	99623354	A	G	A99623354G	MTTP	NM_000253.3(MTTP):c.*506A>G	noncoding	Benign
4	99623436	A	G	A99623436G	MTTP	NM_000253.4(MTTP):c.*588A>G	noncoding	Benign
4	99623644	C	T	C99623644T	MTTP	NM_000253.4(MTTP):c.*796C>T	noncoding	Benign
4	99623710	C	A	C99623710A	MTTP	NM_000253.3(MTTP):c.*862C>A	noncoding	Benign
4	99623894	C	G	C99623894G	MTTP	NM_000253.3(MTTP):c.*1046C>G	noncoding	Benign
4	100415923	G	A	G100415923A	EMCN	NM_016242.4(EMCN):c.726C>T:p.Thr242=	coding	Benign
4	100465486	C	T	C100465486T	EMCN	NM_016242.4(EMCN):c.313G>A:p.Val105Ile	coding	Benign
4	101026014	C	T	C101026014T	PPP3CA	NM_000944.5(PPP3CA):c.1417G>A:p.Ala473Thr	coding	Pathogenic
4	101026023	A	G	A101026023G	PPP3CA	NM_000944.5(PPP3CA):c.1408T>C:p.Phe470Leu	coding	Pathogenic
4	101026045	T	C	T101026045C	PPP3CA	NM_000944.5(PPP3CA):c.1386A>G:p.Ser462=	coding	Benign
4	101032267	C	T	C101032267T	PPP3CA	NM_000944.5(PPP3CA):c.1339G>A:p.Ala447Thr	coding	Pathogenic
4	101032273	G	A	G101032273A	PPP3CA	NM_000944.5(PPP3CA):c.1333C>T:p.Gln445Ter	coding	Pathogenic
4	101061080	C	A	C101061080A	PPP3CA	NM_000944.5(PPP3CA):c.1156+7G>T	noncoding	Benign
4	101061148	C	G	C101061148G	PPP3CA	NM_000944.5(PPP3CA):c.1095G>C:p.Leu365=	coding	Benign
4	101083203	G	C	G101083203C	PPP3CA	NM_000944.5(PPP3CA):c.843C>G:p.His281Gln	coding	Pathogenic
4	101109063	T	C	T101109063C	PPP3CA	NM_000944.5(PPP3CA):c.275A>G:p.His92Arg	coding	Pathogenic
4	101196031	C	T	C101196031T	PPP3CA	NM_000944.5(PPP3CA):c.144G>A:p.Ala48=	coding	Benign
4	101829857	G	C	G101829857C	BANK1	NM_017935.5(BANK1):c.120G>C:p.Trp40Cys	coding	Benign
4	102344582	T	G	T102344582G	SLC39A8	NM_001135146.2(SLC39A8):c.81A>C:p.Leu27=	coding	Benign
4	102533886	G	A	G102533886A	NFKB1	NM_003998.4(NFKB1):c.159+1G>A	coding	Pathogenic
4	102566988	T	G	T102566988G	NFKB1	NM_003998.4(NFKB1):c.260T>G:p.Ile87Ser	coding	Pathogenic
4	102567021	T	A	T102567021A	NFKB1	NM_003998.4(NFKB1):c.293T>A:p.Val98Asp	coding	Pathogenic
4	102567023	C	T	C102567023T	NFKB1	NM_003998.4(NFKB1):c.295C>T:p.Gln99Ter	coding	Pathogenic
4	102567136	G	A	G102567136A	NFKB1	NM_003998.4(NFKB1):c.407+1G>A	coding	Pathogenic
4	102577044	G	A	G102577044A	NFKB1	NM_003998.4(NFKB1):c.571+5G>A	noncoding	Benign
4	102579043	A	G	A102579043G	NFKB1	NM_003998.4(NFKB1):c.730+4A>G	noncoding	Pathogenic
4	102580641	T	G	T102580641G	NFKB1	NM_003998.4(NFKB1):c.835+2T>G	noncoding	Pathogenic
4	102582873	C	G	C102582873G	NFKB1	NM_003998.4(NFKB1):c.843C>G:p.Ile281Met	coding	Pathogenic
4	102582880	C	T	C102582880T	NFKB1	NM_003998.4(NFKB1):c.850C>T:p.Arg284Ter	coding	Pathogenic/Likely_pathogenic
4	102594884	C	T	C102594884T	NFKB1	NM_003998.4(NFKB1):c.1211-8C>T	noncoding	Benign
4	102596306	C	T	C102596306T	NFKB1	NM_003998.4(NFKB1):c.1469C>T:p.Thr490Ile	coding	Benign
4	102597543	A	G	A102597543G	NFKB1	NM_003998.4(NFKB1):c.1519A>G:p.Met507Val	coding	Benign/Likely_benign
4	102600957	C	T	C102600957T	NFKB1	NM_003998.4(NFKB1):c.1700C>T:p.Thr567Ile	coding	Benign
4	102606498	G	A	G102606498A	NFKB1	NM_003998.4(NFKB1):c.1755G>A:p.Thr585=	coding	Benign
4	102606588	G	T	G102606588T	NFKB1	NM_003998.4(NFKB1):c.1845G>T:p.Leu615Phe	coding	Benign
4	102607278	G	T	G102607278T	NFKB1	NM_003998.4(NFKB1):c.2083G>T:p.Glu695Ter	coding	Pathogenic
4	102607660	T	G	T102607660G	NFKB1	NM_003998.4(NFKB1):c.2136T>G:p.His712Gln	coding	Benign
4	102612474	G	C	G102612474C	NFKB1	NM_003998.4(NFKB1):c.2460G>C:p.Leu820=	coding	Benign
4	102613421	A	G	A102613421G	NFKB1	NM_003998.4(NFKB1):c.2593-4A>G	noncoding	Benign
4	102616435	C	T	C102616435T	NFKB1	NM_003998.4(NFKB1):c.2751C>T:p.Asp917=	coding	Benign
4	102631552	C	T	C102631552T	MANBA	NM_005908.4(MANBA):c.*505G>A	noncoding	Benign
4	102631656	C	T	C102631656T	MANBA	NM_005908.4(MANBA):c.*401G>A	noncoding	Benign
4	102631673	G	A	G102631673A	MANBA	NM_005908.4(MANBA):c.*384C>T	noncoding	Benign
4	102631701	C	T	C102631701T	MANBA	NM_005908.4(MANBA):c.*356G>A	noncoding	Benign
4	102631740	T	C	T102631740C	MANBA	NM_005908.4(MANBA):c.*317A>G	noncoding	Benign
4	102631896	G	A	G102631896A	MANBA	NM_005908.4(MANBA):c.*161C>T	noncoding	Benign
4	102631933	A	G	A102631933G	MANBA	NM_005908.4(MANBA):c.*124T>C	noncoding	Benign
4	102632215	C	T	C102632215T	MANBA	NM_005908.4(MANBA):c.2482G>A:p.Val828Ile	coding	Benign
4	102632386	C	T	C102632386T	MANBA	NM_005908.4(MANBA):c.2416-105G>A	noncoding	Benign
4	102632508	G	A	G102632508A	MANBA	NM_005908.4(MANBA):c.2416-227C>T	noncoding	Benign
4	102634462	C	G	C102634462G	MANBA	NM_005908.4(MANBA):c.2415+326G>C	noncoding	Benign
4	102634519	T	C	T102634519C	MANBA	NM_005908.4(MANBA):c.2415+269A>G	noncoding	Benign
4	102634646	G	C	G102634646C	MANBA	NM_005908.4(MANBA):c.2415+142C>G	noncoding	Benign
4	102634664	G	A	G102634664A	MANBA	NM_005908.4(MANBA):c.2415+124C>T	noncoding	Benign
4	102634835	A	G	A102634835G	MANBA	NM_005908.4(MANBA):c.2368T>C:p.Leu790=	coding	Benign
4	102634852	G	C	G102634852C	MANBA	NM_005908.4(MANBA):c.2351C>G:p.Pro784Arg	coding	Benign
4	102634957	A	T	A102634957T	MANBA	NM_005908.4(MANBA):c.2246T>A:p.Leu749His	coding	Benign/Likely_benign
4	102635047	T	C	T102635047C	MANBA	NM_005908.4(MANBA):c.2158-2A>G	noncoding	Pathogenic
4	102635159	T	C	T102635159C	MANBA	NM_005908.4(MANBA):c.2158-114A>G	noncoding	Benign
4	102635305	G	C	G102635305C	MANBA	NM_005908.4(MANBA):c.2158-260C>G	noncoding	Benign
4	102635704	T	C	T102635704C	MANBA	NM_005908.4(MANBA):c.2157+161A>G	noncoding	Benign
4	102635886	C	T	C102635886T	MANBA	NM_005908.4(MANBA):c.2136G>A:p.Ser712=	coding	Benign/Likely_benign
4	102635920	G	A	G102635920A	MANBA	NM_005908.4(MANBA):c.2102C>T:p.Thr701Met	coding	Benign
4	102636035	C	T	C102636035T	MANBA	NM_005908.4(MANBA):c.2015-28G>A	noncoding	Benign
4	102636062	C	T	C102636062T	MANBA	NM_005908.4(MANBA):c.2015-55G>A	noncoding	Benign
4	102636094	G	A	G102636094A	MANBA	NM_005908.4(MANBA):c.2015-87C>T	noncoding	Benign
4	102636154	G	C	G102636154C	MANBA	NM_005908.4(MANBA):c.2015-147C>G	noncoding	Benign
4	102650714	G	T	G102650714T	MANBA	NM_005908.4(MANBA):c.1705-13C>A	noncoding	Benign
4	102657764	C	T	C102657764T	MANBA	NM_005908.4(MANBA):c.1622G>A:p.Trp541Ter	coding	Pathogenic
4	102657873	A	G	A102657873G	MANBA	NM_005908.4(MANBA):c.1513T>C:p.Ser505Pro	coding	Pathogenic
4	102664662	C	T	C102664662T	MANBA	NM_005908.4(MANBA):c.1485+23G>A	noncoding	Benign
4	102664676	A	G	A102664676G	MANBA	NM_005908.4(MANBA):c.1485+9T>C	noncoding	Benign/Likely_benign
4	102664688	C	A	C102664688A	MANBA	NM_005908.4(MANBA):c.1482G>T:p.Leu494=	coding	Benign
4	102664772	C	T	C102664772T	MANBA	NM_005908.4(MANBA):c.1398G>A:p.Trp466Ter	coding	Pathogenic
4	102669004	G	A	G102669004A	MANBA	NM_005908.4(MANBA):c.1276C>T:p.Gln426Ter	coding	Pathogenic
4	102669026	G	C	G102669026C	MANBA	NM_005908.4(MANBA):c.1254C>G:p.Ala418=	coding	Benign/Likely_benign
4	102689573	C	T	C102689573T	MANBA	NM_005908.4(MANBA):c.960+1G>A	noncoding	Pathogenic
4	102689715	A	G	A102689715G	MANBA	NM_005908.4(MANBA):c.850-31T>C	noncoding	Benign
4	102690583	T	G	T102690583G	MANBA	NM_005908.4(MANBA):c.849+13A>C	noncoding	Benign
4	102690614	T	C	T102690614C	MANBA	NM_005908.4(MANBA):c.831A>G:p.Leu277=	coding	Benign
4	102690688	C	T	C102690688T	MANBA	NM_005908.4(MANBA):c.757G>A:p.Val253Ile	coding	Benign
4	102690752	C	T	C102690752T	MANBA	NM_005908.4(MANBA):c.693G>A:p.Trp231Ter	coding	Pathogenic
4	102723865	T	C	T102723865C	MANBA	NM_005908.4(MANBA):c.375A>G:p.Arg125=	coding	Pathogenic
4	102723925	C	T	C102723925T	MANBA	NM_005908.4(MANBA):c.315G>A:p.Thr105=	coding	Benign
4	102726614	C	A	C102726614A	MANBA	NM_005908.4(MANBA):c.247G>T:p.Glu83Ter	coding	Pathogenic
4	102726691	T	C	T102726691C	MANBA	NM_005908.4(MANBA):c.178-8A>G	noncoding	Benign
4	102869144	G	C	G102869144C	CISD2	NM_001008388.5(CISD2):c.60G>C:p.Arg20=	coding	Benign
4	102869188	G	A	G102869188A	CISD2	NM_001008388.5(CISD2):c.103+1G>A	coding	Pathogenic
4	102885207	C	A	C102885207A	CISD2	NM_001008388.5(CISD2):c.104-9C>A	coding	Benign
4	102885221	G	C	G102885221C	CISD2	NM_001008388.5(CISD2):c.109G>C:p.Glu37Gln	coding	Pathogenic
4	103031712	G	C	G103031712C	SLC9B2	NM_178833.7(SLC9B2):c.1243C>G:p.Pro415Ala	coding	Benign
4	103043305	G	T	G103043305T	SLC9B2	NM_178833.7(SLC9B2):c.1137C>A:p.Thr379=	coding	Benign
4	103047139	G	A	G103047139A	SLC9B2	NM_178833.7(SLC9B2):c.801C>T:p.Val267=	coding	Benign
4	103082916	C	T	C103082916T	BDH2	NM_020139.4(BDH2):c.546G>A:p.Thr182=	coding	Benign
4	103095267	T	G	T103095267G	BDH2	NM_020139.4(BDH2):c.87A>C:p.Glu29Asp	coding	Benign
4	103109050	C	T	C103109050T	CENPE	NM_001813.3(CENPE):c.7764G>A:p.Lys2588=	coding	Benign
4	103110950	G	A	G103110950A	CENPE	NM_001813.3(CENPE):c.7602C>T:p.Ser2534=	coding	Benign/Likely_benign
4	103111010	C	T	C103111010T	CENPE	NM_001813.3(CENPE):c.7542G>A:p.Val2514=	coding	Benign
4	103123040	G	C	G103123040C	CENPE	NM_001813.3(CENPE):c.6974C>G:p.Ser2325Cys	coding	Benign/Likely_benign
4	103132819	T	C	T103132819C	CENPE	NM_001813.3(CENPE):c.6798A>G:p.Lys2266=	coding	Benign
4	103139999	T	C	T103139999C	CENPE	NM_001813.3(CENPE):c.5994A>G:p.Glu1998=	coding	Benign
4	103140295	T	C	T103140295C	CENPE	NM_001813.3(CENPE):c.5874A>G:p.Gln1958=	coding	Benign
4	103140380	C	T	C103140380T	CENPE	NM_001813.3(CENPE):c.5789G>A:p.Arg1930His	coding	Benign
4	103145133	T	G	T103145133G	CENPE	NM_001813.3(CENPE):c.4774A>C:p.Lys1592Gln	coding	Benign
4	103145166	T	G	T103145166G	CENPE	NM_001813.3(CENPE):c.4741A>C:p.Ser1581Arg	coding	Benign
4	103145191	G	A	G103145191A	CENPE	NM_001813.3(CENPE):c.4716C>T:p.Leu1572=	coding	Benign
4	103145970	G	A	G103145970A	CENPE	NM_001813.3(CENPE):c.4272C>T:p.Leu1424=	coding	Benign
4	103146038	T	C	T103146038C	CENPE	NM_001813.3(CENPE):c.4204A>G:p.Ile1402Val	coding	Benign/Likely_benign
4	103147396	T	A	T103147396A	CENPE	NM_001813.3(CENPE):c.4094A>T:p.His1365Leu	coding	Benign
4	103147427	T	C	T103147427C	CENPE	NM_001813.3(CENPE):c.4063A>G:p.Lys1355Glu	coding	Pathogenic
4	103148884	G	A	G103148884A	CENPE	NM_001813.3(CENPE):c.3803C>T:p.Thr1268Ile	coding	Benign
4	103149276	T	A	T103149276A	CENPE	NM_001813.3(CENPE):c.3529A>T:p.Met1177Leu	coding	Benign
4	103159060	A	C	A103159060C	CENPE	NM_001813.3(CENPE):c.2551T>G:p.Ser851Ala	coding	Benign
4	103161388	T	C	T103161388C	CENPE	NM_001813.3(CENPE):c.1912A>G:p.Lys638Glu	coding	Benign
4	103182849	G	A	G103182849A	CENPE	NM_001813.3(CENPE):c.876C>T:p.Leu292=	coding	Benign
4	103589609	G	A	G103589609A	TACR3	NM_001059.3(TACR3):c.*73C>T	noncoding	Benign
4	103589735	C	T	C103589735T	TACR3	NM_001059.3(TACR3):c.1345G>A:p.Ala449Thr	coding	Benign/Likely_benign
4	103589736	G	A	G103589736A	TACR3	NM_001059.3(TACR3):c.1344C>T:p.Ser448=	coding	Benign/Likely_benign
4	103591515	G	A	G103591515A	TACR3	NM_001059.3(TACR3):c.1057C>T:p.Pro353Ser	coding	Pathogenic
4	103591651	T	G	T103591651G	TACR3	NM_001059.3(TACR3):c.921A>C:p.Thr307=	coding	Benign/Likely_benign
4	103656209	T	C	T103656209C	TACR3	NM_001059.3(TACR3):c.873A>G:p.Leu291=	coding	Benign
4	103656225	T	C	T103656225C	TACR3	NM_001059.3(TACR3):c.857A>G:p.Lys286Arg	coding	Benign/Likely_benign
4	103656258	C	T	C103656258T	TACR3	NM_001059.3(TACR3):c.824G>A:p.Trp275Ter	coding	Pathogenic
4	103656316	A	G	A103656316G	TACR3	NM_001059.3(TACR3):c.766T>C:p.Tyr256His	coding	Pathogenic
4	103658214	C	T	C103658214T	TACR3	NM_001059.3(TACR3):c.737+1G>A	noncoding	Pathogenic
4	103719126	A	G	A103719126G	TACR3	NM_001059.3(TACR3):c.548+2T>C	noncoding	Pathogenic
4	103719382	C	G	C103719382G	TACR3	NM_001059.3(TACR3):c.294G>C:p.Val98=	coding	Benign/Likely_benign
4	103719398	C	T	C103719398T	TACR3	NM_001059.3(TACR3):c.278G>A:p.Gly93Asp	coding	Pathogenic
4	103719778	A	G	A103719778G	TACR3	NM_001059.3(TACR3):c.-103T>C	noncoding	Benign
4	103719907	G	C	G103719907C	TACR3	NM_001059.3(TACR3):c.-232C>G	noncoding	Benign
4	103719946	G	C	G103719946C	TACR3	NM_001059.3(TACR3):c.-271C>G	noncoding	Benign
4	105234548	C	T	C105234548T	TET2	NM_017628.4(TET2):c.606C>T:p.Asn202=	coding	Benign
4	105235826	G	A	G105235826A	TET2	NM_017628.4(TET2):c.1884G>A:p.Glu628=	coding	Benign
4	105236541	T	C	T105236541C	TET2	NM_017628.4(TET2):c.2599T>C:p.Tyr867His	coding	Benign
4	105236713	A	G	A105236713G	TET2	NM_017628.4(TET2):c.2771A>G:p.His924Arg	coding	Benign
4	105237032	G	A	G105237032A	TET2	NM_017628.4(TET2):c.3090G>A:p.Gln1030=	coding	Benign
4	105237058	C	T	C105237058T	TET2	NM_017628.4(TET2):c.3116C>T:p.Ser1039Leu	coding	Benign
4	105237193	A	C	A105237193C	TET2	NM_017628.4(TET2):c.3251A>C:p.Gln1084Pro	coding	Benign
4	105243566	G	A	G105243566A	TET2	NM_001127208.2(TET2):c.3595-4G>A	noncoding	Benign
4	105269756	G	A	G105269756A	TET2	NM_001127208.2(TET2):c.4182+9G>A	noncoding	Benign
4	105275613	G	A	G105275613A	TET2	NM_001127208.2(TET2):c.5103G>A:p.Met1701Ile	coding	Benign
4	105275662	G	T	G105275662T	TET2	NM_001127208.2(TET2):c.5152G>T:p.Val1718Leu	coding	Benign
4	105275677	C	T	C105275677T	TET2	NM_001127208.2(TET2):c.5167C>T:p.Pro1723Ser	coding	Benign
4	105386568	G	T	G105386568T	PPA2	NM_176869.3(PPA2):c.938C>A:p.Ser313Ter	coding	Pathogenic/Likely_pathogenic
4	105386605	G	A	G105386605A	PPA2	NM_176869.3(PPA2):c.901C>T:p.Arg301Cys	coding	Benign
4	105386625	T	G	T105386625G	PPA2	NM_176869.3(PPA2):c.881A>C:p.Gln294Pro	coding	Pathogenic
4	105399093	C	A	C105399093A	PPA2	NM_176869.3(PPA2):c.727G>T:p.Val243Leu	coding	Benign
4	105399137	G	A	G105399137A	PPA2	NM_176869.3(PPA2):c.683C>T:p.Pro228Leu	coding	Pathogenic
4	105424224	C	T	C105424224T	PPA2	NM_176869.3(PPA2):c.627G>A:p.Ala209=	coding	Benign
4	105437964	C	T	C105437964T	PPA2	NM_176869.3(PPA2):c.514G>A:p.Glu172Lys	coding	Pathogenic/Likely_pathogenic
4	105437965	G	A	G105437965A	PPA2	NM_176869.3(PPA2):c.513C>T:p.Cys171=	coding	Benign
4	105437978	G	A	G105437978A	PPA2	NM_176869.3(PPA2):c.500C>T:p.Pro167Leu	coding	Pathogenic
4	105449353	C	A	C105449353A	PPA2	NM_176869.3(PPA2):c.318G>T:p.Met106Ile	coding	Pathogenic
4	105449391	T	C	T105449391C	PPA2	NM_176869.3(PPA2):c.280A>G:p.Met94Val	coding	Pathogenic
4	105456677	A	T	A105456677T	PPA2	NM_176869.3(PPA2):c.222+4T>A	noncoding	Benign
4	105456723	A	G	A105456723G	PPA2	NM_176869.3(PPA2):c.180T>C:p.Ile60=	coding	Benign
4	105474045	G	A	G105474045A	PPA2	NM_176869.3(PPA2):c.6C>T:p.Ser2=	coding	Benign
4	106046592	G	A	G106046592A	TBCK	NM_001163435.3(TBCK):c.2660C>T:p.Thr887Ile	coding	Benign
4	106116217	G	T	G106116217T	TBCK	NM_001163435.3(TBCK):c.2397C>A:p.Ile799=	coding	Benign
4	106171116	T	C	T106171116C	TBCK	NM_001163435.3(TBCK):c.2214A>G:p.Pro738=	coding	Benign
4	106171187	G	A	G106171187A	TBCK	NM_001163435.3(TBCK):c.2143C>T:p.Gln715Ter	coding	Pathogenic
4	106194717	C	T	C106194717T	TBCK	NM_001163435.3(TBCK):c.1897+1G>A	noncoding	Pathogenic/Likely_pathogenic
4	106194735	A	C	A106194735C	TBCK	NM_001163435.3(TBCK):c.1880T>G:p.Phe627Cys	coding	Pathogenic
4	106194737	C	A	C106194737A	TBCK	NM_001163435.3(TBCK):c.1878G>T:p.Trp626Cys	coding	Pathogenic
4	106212749	C	T	C106212749T	TBCK	NM_001163435.3(TBCK):c.1860+1G>A	noncoding	Pathogenic
4	106230366	G	A	G106230366A	TBCK	NM_001163435.3(TBCK):c.1771C>T:p.Gln591Ter	coding	Pathogenic/Likely_pathogenic
4	106231725	T	A	T106231725A	TBCK	NM_001163435.3(TBCK):c.1690+4A>T	noncoding	Benign
4	106233011	T	C	T106233011C	TBCK	NM_001163435.3(TBCK):c.1566A>G:p.Pro522=	coding	Benign
4	106233045	C	T	C106233045T	TBCK	NM_001163435.3(TBCK):c.1532G>A:p.Arg511His	coding	Pathogenic/Likely_pathogenic
4	106235355	T	A	T106235355A	TBCK	NM_001163435.3(TBCK):c.1363A>T:p.Lys455Ter	coding	Pathogenic
4	106236405	G	A	G106236405A	TBCK	NM_001163435.3(TBCK):c.1335C>T:p.Phe445=	coding	Benign
4	106236465	C	T	C106236465T	TBCK	NM_001163435.3(TBCK):c.1275G>A:p.Thr425=	coding	Benign
4	106244657	G	A	G106244657A	TBCK	NM_001163435.3(TBCK):c.1039C>T:p.Arg347Ter	coding	Pathogenic
4	106247274	G	C	G106247274C	TBCK	NM_001163435.3(TBCK):c.796C>G:p.Gln266Glu	coding	Benign
4	106248306	C	A	C106248306A	TBCK	NM_001163435.3(TBCK):c.721G>T:p.Glu241Ter	coding	Pathogenic
4	106248983	C	T	C106248983T	TBCK	NM_001163435.3(TBCK):c.659-1G>A	coding	Pathogenic
4	106250417	C	T	C106250417T	TBCK	NM_001163435.3(TBCK):c.658+1G>A	noncoding	Pathogenic
4	106262103	G	A	G106262103A	TBCK	NM_001163435.3(TBCK):c.376C>T:p.Arg126Ter	coding	Pathogenic
4	106308767	C	A	C106308767A	TBCK	NM_001163435.3(TBCK):c.193+1G>T	noncoding	Pathogenic
4	106308907	A	G	A106308907G	TBCK	NM_001163435.3(TBCK):c.54T>C:p.Ala18=	coding	Benign
4	106327456	C	T	C106327456T	AIMP1	NM_001142416.2(AIMP1):c.115C>T:p.Gln39Ter	coding	Pathogenic
4	106328161	A	C	A106328161C	AIMP1	NM_001142416.2(AIMP1):c.309A>C:p.Thr103=	coding	Benign
4	106328162	A	G	A106328162G	AIMP1	NM_001142416.2(AIMP1):c.310A>G:p.Thr104Ala	coding	Benign/Likely_benign
4	106328186	C	T	C106328186T	AIMP1	NM_001142416.2(AIMP1):c.334C>T:p.Gln112Ter	coding	Pathogenic
4	106328201	A	G	A106328201G	AIMP1	NM_001142416.2(AIMP1):c.349A>G:p.Thr117Ala	coding	Benign
4	106328209	C	T	C106328209T	AIMP1	NM_001142416.2(AIMP1):c.357C>T:p.Asp119=	coding	Benign
4	107895738	T	G	T107895738G	SGMS2	NM_152621.5(SGMS2):c.185T>G:p.Ile62Ser	coding	Pathogenic
4	107895744	T	G	T107895744G	SGMS2	NM_152621.5(SGMS2):c.191T>G:p.Met64Arg	coding	Pathogenic
4	107903355	G	A	G107903355A	SGMS2	NM_001136257.2(SGMS2):c.696G>A:p.Thr232=	coding	Benign
4	107931607	G	A	G107931607A	CYP2U1	NM_183075.3(CYP2U1):c.-37G>A	noncoding	Benign
4	107931653	C	T	C107931653T	CYP2U1	NM_183075.3(CYP2U1):c.10C>T:p.Pro4Ser	coding	Benign
4	107931985	C	A	C107931985A	CYP2U1	NM_183075.3(CYP2U1):c.342C>A:p.Tyr114Ter	coding	Pathogenic
4	107932139	C	T	C107932139T	CYP2U1	NM_183075.3(CYP2U1):c.490+6C>T	noncoding	Benign
4	107932436	A	G	A107932436G	CYP2U1	NM_183075.3(CYP2U1):c.490+303A>G	noncoding	Benign
4	107945083	G	A	G107945083A	CYP2U1	NM_183075.3(CYP2U1):c.604G>A:p.Glu202Lys	coding	Pathogenic
4	107945263	T	C	T107945263C	CYP2U1	NM_183075.3(CYP2U1):c.784T>C:p.Cys262Arg	coding	Pathogenic
4	107945422	C	T	C107945422T	CYP2U1	NM_183075.3(CYP2U1):c.943C>T:p.Gln315Ter	coding	Pathogenic
4	107945426	A	T	A107945426T	CYP2U1	NM_183075.3(CYP2U1):c.947A>T:p.Asp316Val	coding	Pathogenic
4	107947359	T	C	T107947359C	CYP2U1	NM_183075.3(CYP2U1):c.1127-17T>C	noncoding	Benign
4	107947388	A	G	A107947388G	CYP2U1	NM_183075.3(CYP2U1):c.1139A>G:p.Glu380Gly	coding	Pathogenic
4	107947400	G	T	G107947400T	CYP2U1	NM_183075.3(CYP2U1):c.1151G>T:p.Arg384Ile	coding	Benign/Likely_benign
4	107947417	C	T	C107947417T	CYP2U1	NM_183075.3(CYP2U1):c.1168C>T:p.Arg390Ter	coding	Pathogenic
4	107949457	C	T	C107949457T	CYP2U1	NM_183075.3(CYP2U1):c.1396C>T:p.Arg466Ter	coding	Pathogenic/Likely_pathogenic
4	107989740	G	A	G107989740A	HADH	NM_001184705.2(HADH):c.-193G>A	noncoding	Benign/Likely_benign
4	107989862	C	T	C107989862T	HADH	NM_001184705.2(HADH):c.-71C>T	noncoding	Benign
4	107989868	G	A	G107989868A	HADH	NM_001184705.2(HADH):c.-65G>A	noncoding	Benign/Likely_benign
4	107989895	T	C	T107989895C	HADH	NM_005327.5(HADH):c.-38T>C	noncoding	Benign
4	107990050	G	A	G107990050A	HADH	NM_005327.5(HADH):c.118G>A:p.Ala40Thr	coding	Pathogenic
4	108009797	C	A	C108009797A	HADH	NM_005327.5(HADH):c.171C>A:p.Asp57Glu	coding	Pathogenic
4	108009883	T	C	T108009883C	HADH	NM_005327.5(HADH):c.257T>C:p.Leu86Pro	coding	Benign
4	108009888	G	A	G108009888A	HADH	NM_005327.7(HADH):c.261+1G>A	coding	Pathogenic
4	108023576	G	A	G108023576A	HADH	NM_005327.5(HADH):c.636+13G>A	noncoding	Benign/Likely_benign
4	108024034	G	T	G108024034T	HADH	NM_005327.5(HADH):c.636+471G>T	noncoding	Pathogenic
4	108027757	C	T	C108027757T	HADH	NM_005327.5(HADH):c.706C>T:p.Arg236Ter	coding	Pathogenic
4	108033239	C	T	C108033239T	HADH	NM_005327.5(HADH):c.773C>T:p.Pro258Leu	coding	Pathogenic
4	108034293	A	G	A108034293G	HADH	NM_005327.5(HADH):c.881A>G:p.Asn294Ser	coding	Benign
4	108034466	T	A	T108034466A	HADH	NM_005327.5(HADH):c.*109T>A	noncoding	Benign
4	108035175	A	G	A108035175G	HADH	NM_001331027.1(HADH):c.*818A>G	noncoding	Benign/Likely_benign
4	108083452	A	C	A108083452C	LEF1	NM_016269.5(LEF1):c.548-6T>G	noncoding	Benign
4	108163655	C	T	C108163655T	LEF1	NM_016269.5(LEF1):c.327G>A:p.Ser109=	coding	Benign
4	108165124	C	T	C108165124T	LEF1	NM_016269.5(LEF1):c.253G>A:p.Asp85Asn	coding	Benign
4	108846165	C	A	C108846165A	COL25A1	NM_198721.4(COL25A1):c.1489G>T:p.Gly497Ter	coding	Pathogenic
4	108852290	G	C	G108852290C	COL25A1	NM_198721.4(COL25A1):c.1345-10C>G	noncoding	Benign
4	108859687	T	C	T108859687C	COL25A1	NM_198721.4(COL25A1):c.1289A>G:p.Asp430Gly	coding	Benign
4	108863327	C	T	C108863327T	COL25A1	NM_198721.4(COL25A1):c.1144G>A:p.Gly382Arg	coding	Pathogenic
4	108940539	G	A	G108940539A	COL25A1	NM_198721.4(COL25A1):c.672C>T:p.Pro224=	coding	Benign
4	108940608	G	T	G108940608T	COL25A1	NM_198721.4(COL25A1):c.603C>A:p.Gly201=	coding	Benign
4	108974557	G	T	G108974557T	COL25A1	NM_198721.4(COL25A1):c.441C>A:p.Gly147=	coding	Benign
4	109050126	G	A	G109050126A	COL25A1	NM_198721.4(COL25A1):c.412+9C>T	noncoding	Benign
4	109301816	G	A	G109301816A	COL25A1	NM_198721.4(COL25A1):c.204C>T:p.Ser68=	coding	Benign
4	109740679	T	C	T109740679C	CFI	NM_001375278.1(CFI):c.1558+1812A>G	noncoding	Benign
4	109740749	A	G	A109740749G	CFI	NM_000204.4(CFI):c.*144T>C	noncoding	Benign
4	109740781	G	A	G109740781A	CFI	NM_000204.4(CFI):c.*112C>T	noncoding	Benign
4	109740886	C	A	C109740886A	CFI	NM_000204.4(CFI):c.*7G>T	noncoding	Benign
4	109741003	C	G	C109741003G	CFI	NM_000204.4(CFI):c.1642G>C:p.Glu548Gln	coding	Benign/Likely_benign
4	109741064	G	A	G109741064A	CFI	NM_000204.4(CFI):c.1581C>T:p.Gly527=	coding	Benign
4	109742486	C	A	C109742486A	CFI	NM_000204.5(CFI):c.1534+5G>T	noncoding	Benign/Likely_benign
4	109742582	G	A	G109742582A	CFI	NM_000204.4(CFI):c.1443C>T:p.Val481=	coding	Benign
4	109746214	A	G	A109746214G	CFI	NM_000204.4(CFI):c.1429+8T>C	noncoding	Benign
4	109746241	A	G	A109746241G	CFI	NM_000204.4(CFI):c.1410T>C:p.Ser470=	coding	Benign
4	109746329	T	C	T109746329C	CFI	NM_000204.4(CFI):c.1322A>G:p.Lys441Arg	coding	Benign
4	109746398	T	A	T109746398A	CFI	NM_000204.4(CFI):c.1253A>T:p.His418Leu	coding	Pathogenic
4	109746405	T	G	T109746405G	CFI	NM_000204.4(CFI):c.1246A>C:p.Ile416Leu	coding	Benign/Likely_benign
4	109746434	C	T	C109746434T	CFI	NM_000204.4(CFI):c.1217G>A:p.Arg406His	coding	Benign
4	109746445	G	A	G109746445A	CFI	NM_000204.4(CFI):c.1206C>T:p.Pro402=	coding	Benign
4	109746511	G	A	G109746511A	CFI	NM_000204.4(CFI):c.1149-9C>T	noncoding	Benign
4	109749491	G	A	G109749491A	CFI	NM_000204.4(CFI):c.1044+8C>T	noncoding	Benign
4	109757790	A	G	A109757790G	CFI	NM_000204.4(CFI):c.884-7T>C	noncoding	Benign
4	109760349	C	T	C109760349T	CFI	NM_000204.4(CFI):c.804G>A:p.Ser268=	coding	Benign
4	109760567	C	T	C109760567T	CFI	NM_000204.4(CFI):c.728G>A:p.Gly243Asp	coding	Pathogenic
4	109760576	G	C	G109760576C	CFI	NM_000204.5(CFI):c.719C>G:p.Ala240Gly	coding	Benign
4	109761567	G	A	G109761567A	CFI	NM_000204.4(CFI):c.608C>T:p.Thr203Ile	coding	Benign
4	109761572	T	G	T109761572G	CFI	NM_000204.5(CFI):c.603A>C:p.Arg201Ser	coding	Benign
4	109761615	C	T	C109761615T	CFI	NM_000204.5(CFI):c.560G>A:p.Arg187Gln	coding	Benign
4	109764523	A	T	A109764523T	CFI	NM_000204.4(CFI):c.482+14T>A	noncoding	Benign
4	109764529	G	A	G109764529A	CFI	NM_000204.4(CFI):c.482+8C>T	noncoding	Benign
4	109764531	G	A	G109764531A	CFI	NM_000204.4(CFI):c.482+6C>T	noncoding	Benign
4	109764531	G	T	G109764531T	CFI	NM_000204.4(CFI):c.482+6C>A	noncoding	Benign
4	109764614	A	G	A109764614G	CFI	NM_000204.4(CFI):c.405T>C:p.Asp135=	coding	Benign
4	109766563	T	C	T109766563C	CFI	NM_000204.4(CFI):c.319A>G:p.Thr107Ala	coding	Benign
4	109766567	T	A	T109766567A	CFI	NM_000204.4(CFI):c.315A>T:p.Thr105=	coding	Benign
4	109766720	G	C	G109766720C	CFI	NM_000204.4(CFI):c.162C>G:p.Cys54Trp	coding	Pathogenic
4	109801984	C	T	C109801984T	CFI	NM_000204.4(CFI):c.-13G>A	noncoding	Benign
4	109851545	C	T	C109851545T	LRIT3	NM_198506.5(LRIT3):c.158C>T:p.Thr53Met	coding	Benign
4	109851718	C	G	C109851718G	LRIT3	NM_198506.5(LRIT3):c.331C>G:p.Arg111Gly	coding	Benign/Likely_benign
4	109851791	A	T	A109851791T	LRIT3	NM_198506.5(LRIT3):c.404A>T:p.Asp135Val	coding	Benign
4	109851911	G	A	G109851911A	LRIT3	NM_198506.5(LRIT3):c.524G>A:p.Ser175Asn	coding	Benign
4	109851952	C	T	C109851952T	LRIT3	NM_198506.5(LRIT3):c.565C>T:p.Leu189Phe	coding	Benign/Likely_benign
4	109869732	G	A	G109869732A	LRIT3	NM_198506.5(LRIT3):c.983G>A:p.Cys328Tyr	coding	Pathogenic
4	109869755	A	T	A109869755T	LRIT3	NM_198506.5(LRIT3):c.1006A>T:p.Met336Leu	coding	Benign
4	109869900	C	G	C109869900G	LRIT3	NM_198506.5(LRIT3):c.1151C>G:p.Ser384Ter	coding	Pathogenic
4	109869931	A	G	A109869931G	LRIT3	NM_198506.5(LRIT3):c.1182A>G:p.Thr394=	coding	Benign
4	109869975	C	T	C109869975T	LRIT3	NM_198506.5(LRIT3):c.1226C>T:p.Ser409Phe	coding	Benign
4	109870066	G	A	G109870066A	LRIT3	NM_198506.5(LRIT3):c.1317G>A:p.Lys439=	coding	Benign
4	109870067	C	T	C109870067T	LRIT3	NM_198506.5(LRIT3):c.1318C>T:p.Arg440Ter	coding	Pathogenic
4	109870191	C	T	C109870191T	LRIT3	NM_198506.5(LRIT3):c.1442C>T:p.Thr481Met	coding	Benign/Likely_benign
4	109870205	G	A	G109870205A	LRIT3	NM_198506.5(LRIT3):c.1456G>A:p.Ala486Thr	coding	Benign
4	109870257	C	T	C109870257T	LRIT3	NM_198506.5(LRIT3):c.1508C>T:p.Thr503Met	coding	Benign
4	109870258	G	A	G109870258A	LRIT3	NM_198506.5(LRIT3):c.1509G>A:p.Thr503=	coding	Benign/Likely_benign
4	109870297	T	C	T109870297C	LRIT3	NM_198506.5(LRIT3):c.1548T>C:p.Thr516=	coding	Benign
4	109870387	C	T	C109870387T	LRIT3	NM_198506.5(LRIT3):c.1638C>T:p.Pro546=	coding	Benign
4	109871021	C	G	C109871021G	LRIT3	NM_198506.5(LRIT3):c.*232C>G	noncoding	Benign
4	109871178	G	A	G109871178A	LRIT3	NM_198506.5(LRIT3):c.*389G>A	noncoding	Benign
4	109871473	A	G	A109871473G	LRIT3	NM_198506.5(LRIT3):c.*684A>G	noncoding	Benign
4	109871751	A	G	A109871751G	LRIT3	NM_198506.5(LRIT3):c.*962A>G	noncoding	Benign
4	109871912	T	C	T109871912C	LRIT3	NM_198506.5(LRIT3):c.*1123T>C	noncoding	Benign
4	109872060	T	C	T109872060C	LRIT3	NM_198506.5(LRIT3):c.*1271T>C	noncoding	Benign
4	109912912	G	A	G109912912A	EGF	NM_001963.6(EGF):c.-424G>A	noncoding	Benign
4	109913381	A	C	A109913381C	EGF	NM_001963.6(EGF):c.46A>C:p.Ser16Arg	coding	Benign
4	109941082	C	T	C109941082T	EGF	NM_001963.6(EGF):c.264C>T:p.Ile88=	coding	Benign
4	109943377	C	T	C109943377T	EGF	NM_001963.6(EGF):c.451C>T:p.His151Tyr	coding	Benign
4	109943888	G	C	G109943888C	EGF	NM_001963.6(EGF):c.556G>C:p.Asp186His	coding	Benign
4	109944052	T	C	T109944052C	EGF	NM_001963.6(EGF):c.720T>C:p.Ile240=	coding	Benign
4	109945104	G	C	G109945104C	EGF	NM_001963.6(EGF):c.769G>C:p.Asp257His	coding	Benign
4	109945210	T	A	T109945210A	EGF	NM_001963.6(EGF):c.875T>A:p.Leu292His	coding	Benign
4	109945286	G	A	G109945286A	EGF	NM_001963.6(EGF):c.940+11G>A	noncoding	Benign
4	109959303	C	A	C109959303A	EGF	NM_001963.6(EGF):c.941-9C>A	noncoding	Benign
4	109959447	G	C	G109959447C	EGF	NM_001963.6(EGF):c.1066+10G>C	noncoding	Benign
4	109960895	T	C	T109960895C	EGF	NM_001963.6(EGF):c.1095T>C:p.His365=	coding	Benign
4	109961965	G	A	G109961965A	EGF	NM_001963.6(EGF):c.1292G>A:p.Arg431Lys	coding	Benign
4	109963163	G	T	G109963163T	EGF	NM_001963.6(EGF):c.1313-10G>T	noncoding	Benign
4	109963240	A	G	A109963240G	EGF	NM_001963.6(EGF):c.1380A>G:p.Glu460=	coding	Benign
4	109974691	C	A	C109974691A	EGF	NM_001963.6(EGF):c.1725-12C>A	noncoding	Benign
4	109974767	A	G	A109974767G	EGF	NM_001963.6(EGF):c.1789A>G:p.Ile597Val	coding	Benign
4	109976096	C	G	C109976096G	EGF	NM_001963.6(EGF):c.1914C>G:p.Ser638Arg	coding	Benign
4	109976159	C	T	C109976159T	EGF	NM_001963.6(EGF):c.1977C>T:p.Cys659=	coding	Benign
4	109979991	A	G	A109979991G	EGF	NM_001963.6(EGF):c.2073A>G:p.Ala691=	coding	Benign
4	109980042	G	A	G109980042A	EGF	NM_001963.6(EGF):c.2124G>A:p.Met708Ile	coding	Benign
4	109980902	G	A	G109980902A	EGF	NM_001963.6(EGF):c.2298G>A:p.Ser766=	coding	Benign
4	109980955	A	T	A109980955T	EGF	NM_001963.6(EGF):c.2351A>T:p.Asp784Val	coding	Benign
4	109983483	G	A	G109983483A	EGF	NM_001963.6(EGF):c.2433G>A:p.Val811=	coding	Benign/Likely_benign
4	109987777	T	C	T109987777C	EGF	NM_001963.6(EGF):c.2525T>C:p.Met842Thr	coding	Benign
4	109988579	C	A	C109988579A	EGF	NM_001963.6(EGF):c.2609-5C>A	noncoding	Benign
4	109993271	A	T	A109993271T	EGF	NM_001963.6(EGF):c.2759A>T:p.Glu920Val	coding	Benign
4	109999791	G	A	G109999791A	EGF	NM_001963.6(EGF):c.3118G>A:p.Val1040Met	coding	Benign
4	109999800	C	T	C109999800T	EGF	NM_001963.6(EGF):c.3127C>T:p.Leu1043Phe	coding	Benign/Likely_benign
4	110004520	A	G	A110004520G	EGF	NM_001963.6(EGF):c.3189A>G:p.Leu1063=	coding	Benign
4	110004540	C	T	C110004540T	EGF	NM_001963.6(EGF):c.3209C>T:p.Pro1070Leu	coding	Pathogenic
4	110004582	C	G	C110004582G	EGF	NM_001963.6(EGF):c.3251C>G:p.Ala1084Gly	coding	Benign
4	110011352	C	A	C110011352A	EGF	NM_001963.6(EGF):c.3521C>A:p.Thr1174Asn	coding	Benign/Likely_benign
4	110011848	T	C	T110011848C	EGF	NM_001963.6(EGF):c.*393T>C	noncoding	Benign
4	110011938	C	T	C110011938T	EGF	NM_001963.6(EGF):c.*483C>T	noncoding	Benign
4	110012890	T	C	T110012890C	EGF	NM_001963.6(EGF):c.*1435T>C	noncoding	Benign
4	110476508	A	G	A110476508G	ENPEP	NM_001977.4(ENPEP):c.94A>G:p.Ile32Val	coding	Benign
4	110476522	C	T	C110476522T	ENPEP	NM_001977.4(ENPEP):c.108C>T:p.Ala36=	coding	Benign
4	110509807	G	A	G110509807A	ENPEP	NM_001977.4(ENPEP):c.1194G>A:p.Gln398=	coding	Benign
4	110520270	A	T	A110520270T	ENPEP	NM_001977.4(ENPEP):c.1631A>T:p.Tyr544Phe	coding	Benign
4	110553396	C	A	C110553396A	ENPEP	NM_001977.4(ENPEP):c.2583C>A:p.Ser861Arg	coding	Benign
4	110617654	C	T	C110617654T	PITX2	NM_000325.6(PITX2):c.*471G>A	noncoding	Benign
4	110617671	G	A	G110617671A	PITX2	NM_000325.6(PITX2):c.*454C>T	noncoding	Benign
4	110618281	C	T	C110618281T	PITX2	NM_000325.6(PITX2):c.819G>A:p.Pro273=	coding	Benign/Likely_benign
4	110618293	A	T	A110618293T	PITX2	NM_000325.6(PITX2):c.807T>A:p.Cys269Ter	coding	Pathogenic
4	110618482	A	C	A110618482C	PITX2	NM_000325.6(PITX2):c.618T>G:p.Ser206=	coding	Benign/Likely_benign
4	110618538	C	T	C110618538T	PITX2	NM_000325.6(PITX2):c.562G>A:p.Ala188Thr	coding	Benign/Likely_benign
4	110618542	C	T	C110618542T	PITX2	NM_000325.6(PITX2):c.558G>A:p.Trp186Ter	coding	Pathogenic
4	110618566	G	C	G110618566C	PITX2	NM_000325.6(PITX2):c.534C>G:p.Tyr178Ter	coding	Pathogenic
4	110618679	T	C	T110618679C	PITX2	NM_000325.6(PITX2):c.421A>G:p.Lys141Glu	coding	Pathogenic
4	110618684	C	G	C110618684G	PITX2	NM_000325.6(PITX2):c.416G>C:p.Trp139Ser	coding	Pathogenic
4	110618690	T	A	T110618690A	PITX2	NM_153427.2(PITX2):c.253-2A>T	noncoding	Pathogenic
4	110618699	T	C	T110618699C	PITX2	NM_000325.6(PITX2):c.412-11A>G	noncoding	Pathogenic
4	110621159	C	G	C110621159G	PITX2	NM_000325.6(PITX2):c.411+5G>C	noncoding	Pathogenic
4	110621162	A	C	A110621162C	PITX2	NM_000325.6(PITX2):c.411+2T>G	noncoding	Pathogenic
4	110621163	C	T	C110621163T	PITX2	NM_000325.6(PITX2):c.411+1G>A	noncoding	Pathogenic
4	110621166	G	A	G110621166A	PITX2	NM_000325.6(PITX2):c.409C>T:p.Arg137Trp	coding	Pathogenic
4	110621169	C	G	C110621169G	PITX2	NM_000325.6(PITX2):c.406G>C:p.Val136Leu	coding	Pathogenic
4	110621192	C	T	C110621192T	PITX2	NM_000325.6(PITX2):c.383G>A:p.Trp128Ter	coding	Pathogenic
4	110621210	C	T	C110621210T	PITX2	NM_000325.6(PITX2):c.365G>A:p.Arg122His	coding	Pathogenic
4	110621214	T	G	T110621214G	PITX2	NM_000325.6(PITX2):c.361A>C:p.Thr121Pro	coding	Pathogenic
4	110621225	G	A	G110621225A	PITX2	NM_000325.6(PITX2):c.350C>T:p.Pro117Leu	coding	Pathogenic
4	110621231	C	T	C110621231T	PITX2	NM_000325.6(PITX2):c.344G>A:p.Arg115His	coding	Pathogenic
4	110621255	A	T	A110621255T	PITX2	NM_000325.6(PITX2):c.320T>A:p.Leu107Gln	coding	Pathogenic
4	110621268	G	A	G110621268A	PITX2	NM_000325.6(PITX2):c.307C>T:p.Gln103Ter	coding	Pathogenic
4	110621378	G	A	G110621378A	PITX2	NM_000325.6(PITX2):c.206-9C>T	noncoding	Benign/Likely_benign
4	110622398	G	A	G110622398A	PITX2	NM_000325.6(PITX2):c.63C>T:p.Ala21=	coding	Benign
4	110632945	G	C	G110632945C	PITX2	NM_153427.2(PITX2):c.46+8C>G	noncoding	Benign/Likely_benign
4	110637132	G	C	G110637132C	PITX2	NM_153427.2(PITX2):c.-362C>G	noncoding	Benign/Likely_benign
4	110637162	C	A	C110637162A	PITX2	NM_153427.2(PITX2):c.-392G>T	noncoding	Benign
4	110637255	G	C	G110637255C	PITX2	NM_153427.2(PITX2):c.-485C>G	noncoding	Benign
4	110637794	C	T	C110637794T	PITX2	NM_153427.2(PITX2):c.-1024G>A	noncoding	Benign/Likely_benign
4	110637838	G	A	G110637838A	PITX2	NM_153427.2(PITX2):c.-1068C>T	noncoding	Benign
4	110637881	G	C	G110637881C	PITX2	NM_153427.2(PITX2):c.-1111C>G	noncoding	Benign/Likely_benign
4	110638081	C	A	C110638081A	PITX2	NM_153427.2(PITX2):c.-1311G>T	noncoding	Benign/Likely_benign
4	110638105	G	T	G110638105T	PITX2	NM_153427.2(PITX2):c.-1335C>A	noncoding	Benign/Likely_benign
4	112268352	A	G	A112268352G	AP1AR	NM_018569.6(AP1AR):c.852A>G:p.Val284=	coding	Benign
4	112427580	C	T	C112427580T	ALPK1	NM_025144.4(ALPK1):c.710C>T:p.Thr237Met	coding	Pathogenic
4	112432165	G	T	G112432165T	ALPK1	NM_025144.4(ALPK1):c.2618G>T:p.Arg873Ile	coding	Benign
4	112432202	G	A	G112432202A	ALPK1	NM_025144.4(ALPK1):c.2655G>A:p.Ala885=	coding	Benign
4	112438645	T	C	T112438645C	ALPK1	NM_025144.4(ALPK1):c.3350T>C:p.Leu1117Pro	coding	Benign
4	112647203	G	C	G112647203C	LARP7	NM_016648.4(LARP7):c.651G>C:p.Glu217Asp	coding	Benign
4	112647231	C	T	C112647231T	LARP7	NM_016648.4(LARP7):c.679C>T:p.Arg227Ter	coding	Pathogenic
4	112647286	A	G	A112647286G	LARP7	NM_016648.4(LARP7):c.734A>G:p.Asn245Ser	coding	Benign
4	112653190	T	C	T112653190C	LARP7	NM_016648.4(LARP7):c.1530T>C:p.Tyr510=	coding	Benign
4	112904252	T	C	T112904252C	ANK2	NM_001127493.3(ANK2):c.-39-203T>C	noncoding	Benign
4	112904665	A	T	A112904665T	ANK2	NM_001127493.3(ANK2):c.21+151A>T	noncoding	Benign
4	112904713	T	C	T112904713C	ANK2	NM_001127493.3(ANK2):c.21+199T>C	noncoding	Benign
4	113049711	C	G	C113049711G	ANK2	NM_001148.6(ANK2):c.-18C>G	coding	Benign
4	113196442	G	A	G113196442A	ANK2	NM_001148.6(ANK2):c.261G>A:p.Gly87=	coding	Benign/Likely_benign
4	113198767	T	C	T113198767C	ANK2	NM_001148.6(ANK2):c.286-244T>C	noncoding	Benign
4	113199128	C	T	C113199128T	ANK2	NM_001148.6(ANK2):c.384+19C>T	noncoding	Benign
4	113199228	T	C	T113199228C	ANK2	NM_001148.6(ANK2):c.384+119T>C	noncoding	Benign
4	113237118	C	T	C113237118T	ANK2	NM_001148.6(ANK2):c.615C>T:p.Thr205=	coding	Benign/Likely_benign
4	113237896	A	C	A113237896C	ANK2	NM_001148.6(ANK2):c.693+274A>C	noncoding	Benign
4	113242243	T	G	T113242243G	ANK2	NM_001148.6(ANK2):c.891+34T>G	noncoding	Benign
4	113249998	A	G	A113249998G	ANK2	NM_001148.6(ANK2):c.990+136A>G	noncoding	Benign
4	113255879	C	T	C113255879T	ANK2	NM_001148.6(ANK2):c.1135C>T:p.Arg379Cys	coding	Benign/Likely_benign
4	113258106	A	G	A113258106G	ANK2	NM_001148.6(ANK2):c.1245A>G:p.Glu415=	coding	Benign
4	113258363	T	A	T113258363A	ANK2	NM_001148.6(ANK2):c.1338T>A:p.Ile446=	coding	Benign
4	113264781	T	G	T113264781G	ANK2	NM_001148.6(ANK2):c.1387-116T>G	noncoding	Benign
4	113264849	C	T	C113264849T	ANK2	NM_001148.6(ANK2):c.1387-48C>T	noncoding	Benign
4	113264911	A	G	A113264911G	ANK2	NM_001148.6(ANK2):c.1401A>G:p.Ala467=	coding	Benign/Likely_benign
4	113265014	A	G	A113265014G	ANK2	NM_001148.6(ANK2):c.1485+19A>G	noncoding	Benign
4	113274646	C	T	C113274646T	ANK2	NM_001148.6(ANK2):c.1680C>T:p.Thr560=	coding	Benign/Likely_benign
4	113278156	C	T	C113278156T	ANK2	NM_001148.6(ANK2):c.1782+221C>T	noncoding	Benign
4	113278540	C	G	C113278540G	ANK2	NM_001148.6(ANK2):c.1863C>G:p.Ser621=	coding	Benign/Likely_benign
4	113278566	C	G	C113278566G	ANK2	NM_001148.6(ANK2):c.1881+8C>G	noncoding	Benign
4	113278567	C	A	C113278567A	ANK2	NM_001148.6(ANK2):c.1881+9C>A	noncoding	Benign
4	113282788	A	G	A113282788G	ANK2	NM_001148.6(ANK2):c.1995A>G:p.Pro665=	coding	Benign
4	113287587	G	T	G113287587T	ANK2	NM_001148.6(ANK2):c.2080-18G>T	noncoding	Benign
4	113287652	T	C	T113287652C	ANK2	NM_001148.6(ANK2):c.2127T>C:p.Asn709=	coding	Benign/Likely_benign
4	113287721	C	T	C113287721T	ANK2	NM_001148.6(ANK2):c.2178+18C>T	noncoding	Benign
4	113287969	T	C	T113287969C	ANK2	NM_001148.6(ANK2):c.2178+266T>C	noncoding	Benign
4	113287977	G	A	G113287977A	ANK2	NM_001148.6(ANK2):c.2178+274G>A	noncoding	Benign
4	113288192	C	T	C113288192T	ANK2	NM_001148.6(ANK2):c.2179-196C>T	noncoding	Benign
4	113288194	C	T	C113288194T	ANK2	NM_001148.6(ANK2):c.2179-194C>T	noncoding	Benign
4	113288458	A	G	A113288458G	ANK2	NM_001148.6(ANK2):c.2249A>G:p.Gln750Arg	coding	Benign/Likely_benign
4	113288495	C	T	C113288495T	ANK2	NM_001148.6(ANK2):c.2277+9C>T	noncoding	Benign/Likely_benign
4	113288535	C	T	C113288535T	ANK2	NM_001148.6(ANK2):c.2277+49C>T	noncoding	Benign
4	113288607	T	C	T113288607C	ANK2	NM_001148.6(ANK2):c.2277+121T>C	noncoding	Benign
4	113292405	G	A	G113292405A	ANK2	NM_001148.6(ANK2):c.2278-11G>A	noncoding	Benign/Likely_benign
4	113292475	C	T	C113292475T	ANK2	NM_001148.6(ANK2):c.2337C>T:p.Val779=	coding	Benign
4	113293432	C	T	C113293432T	ANK2	NM_001148.6(ANK2):c.2377-8C>T	noncoding	Benign/Likely_benign
4	113302857	T	C	T113302857C	ANK2	NM_001148.6(ANK2):c.2548+18T>C	noncoding	Benign
4	113311289	C	T	C113311289T	ANK2	NM_001148.6(ANK2):c.2583C>T:p.Tyr861=	coding	Benign/Likely_benign
4	113311298	T	C	T113311298C	ANK2	NM_001148.6(ANK2):c.2592T>C:p.Pro864=	coding	Benign/Likely_benign
4	113311385	A	G	A113311385G	ANK2	NM_001148.6(ANK2):c.2679A>G:p.Gly893=	coding	Benign/Likely_benign
4	113317725	C	T	C113317725T	ANK2	NM_001148.6(ANK2):c.2712C>T:p.Ser904=	coding	Benign/Likely_benign
4	113317740	T	A	T113317740A	ANK2	NM_001148.6(ANK2):c.2727T>A:p.Thr909=	coding	Benign/Likely_benign
4	113318539	C	G	C113318539G	ANK2	NM_001148.6(ANK2):c.2819C>G:p.Ala940Gly	coding	Benign/Likely_benign
4	113318570	C	A	C113318570A	ANK2	NM_001148.6(ANK2):c.2850C>A:p.Gly950=	coding	Benign/Likely_benign
4	113323755	G	A	G113323755A	ANK2	NM_001148.6(ANK2):c.2900+5135G>A	noncoding	Benign
4	113330230	C	G	C113330230G	ANK2	NM_001148.6(ANK2):c.2901-16C>G	noncoding	Benign
4	113330315	A	C	A113330315C	ANK2	NM_001148.6(ANK2):c.2970A>C:p.Arg990=	coding	Benign/Likely_benign
4	113330364	C	T	C113330364T	ANK2	NM_001148.6(ANK2):c.3019C>T:p.Arg1007Ter	coding	Pathogenic
4	113330594	C	A	C113330594A	ANK2	NM_001148.6(ANK2):c.3125+124C>A	noncoding	Benign
4	113331982	C	T	C113331982T	ANK2	NM_001148.6(ANK2):c.3136C>T:p.Leu1046=	coding	Benign/Likely_benign
4	113332077	G	A	G113332077A	ANK2	NM_001148.6(ANK2):c.3224+7G>A	noncoding	Benign
4	113333084	G	T	G113333084T	ANK2	NM_001148.6(ANK2):c.3255G>T:p.Ala1085=	coding	Benign/Likely_benign
4	113333195	C	T	C113333195T	ANK2	NM_001148.6(ANK2):c.3366C>T:p.Asn1122=	coding	Benign/Likely_benign
4	113333212	C	A	C113333212A	ANK2	NM_001148.6(ANK2):c.3379+4C>A	noncoding	Benign
4	113333220	T	G	T113333220G	ANK2	NM_001148.6(ANK2):c.3379+12T>G	noncoding	Benign
4	113333413	T	C	T113333413C	ANK2	NM_001148.6(ANK2):c.3379+205T>C	noncoding	Benign
4	113335866	C	T	C113335866T	ANK2	NM_001148.6(ANK2):c.3400C>T:p.Leu1134=	coding	Benign
4	113335976	A	G	A113335976G	ANK2	NM_001148.6(ANK2):c.3510A>G:p.Val1170=	coding	Benign
4	113336009	C	T	C113336009T	ANK2	NM_001148.6(ANK2):c.3543C>T:p.Ala1181=	coding	Benign/Likely_benign
4	113336045	C	T	C113336045T	ANK2	NM_001148.6(ANK2):c.3579C>T:p.Arg1193=	coding	Benign
4	113339013	A	G	A113339013G	ANK2	NM_001148.6(ANK2):c.3797-213A>G	noncoding	Benign
4	113339311	C	T	C113339311T	ANK2	NM_001148.6(ANK2):c.3882C>T:p.Asn1294=	coding	Benign
4	113339332	T	C	T113339332C	ANK2	NM_001148.6(ANK2):c.3893+10T>C	noncoding	Benign
4	113339336	G	T	G113339336T	ANK2	NM_001148.6(ANK2):c.3893+14G>T	noncoding	Benign
4	113339485	G	A	G113339485A	ANK2	NM_001148.6(ANK2):c.3893+163G>A	noncoding	Benign
4	113341757	T	C	T113341757C	ANK2	NM_001148.6(ANK2):c.3963T>C:p.Ile1321=	coding	Benign
4	113341945	T	G	T113341945G	ANK2	NM_001148.6(ANK2):c.4122+29T>G	noncoding	Benign
4	113342760	G	T	G113342760T	ANK2	NM_001148.6(ANK2):c.4123-257G>T	noncoding	Benign
4	113342998	T	G	T113342998G	ANK2	NM_001148.6(ANK2):c.4123-19T>G	noncoding	Benign
4	113343046	T	C	T113343046C	ANK2	NM_001148.6(ANK2):c.4152T>C:p.Asp1384=	coding	Benign/Likely_benign
4	113345867	G	A	G113345867A	ANK2	NM_001148.6(ANK2):c.4249-33G>A	noncoding	Benign
4	113348012	C	T	C113348012T	ANK2	NM_001148.6(ANK2):c.4372-264C>T	noncoding	Benign
4	113348256	T	C	T113348256C	ANK2	NM_001148.6(ANK2):c.4372-20T>C	noncoding	Benign
4	113348269	C	T	C113348269T	ANK2	NM_001148.6(ANK2):c.4372-7C>T	noncoding	Benign/Likely_benign
4	113348353	G	A	G113348353A	ANK2	NM_001148.6(ANK2):c.4404+45G>A	noncoding	Benign
4	113348396	G	A	G113348396A	ANK2	NM_001148.6(ANK2):c.4404+88G>A	noncoding	Benign
4	113353362	C	T	C113353362T	ANK2	NM_001148.6(ANK2):c.4744C>T:p.Arg1582Trp	coding	Benign/Likely_benign
4	113353363	G	A	G113353363A	ANK2	NM_001148.6(ANK2):c.4745G>A:p.Arg1582Gln	coding	Benign/Likely_benign
4	113353931	G	A	G113353931A	ANK2	NM_001148.6(ANK2):c.5313G>A:p.Lys1771=	coding	Benign/Likely_benign
4	113354087	C	T	C113354087T	ANK2	NM_001148.6(ANK2):c.5469C>T:p.Pro1823=	coding	Benign
4	113354333	G	A	G113354333A	ANK2	NM_001148.6(ANK2):c.5715G>A:p.Ser1905=	coding	Benign/Likely_benign
4	113354603	G	A	G113354603A	ANK2	NM_001148.6(ANK2):c.5985G>A:p.Lys1995=	coding	Benign/Likely_benign
4	113354786	C	G	C113354786G	ANK2	NM_001148.6(ANK2):c.6168C>G:p.Leu2056=	coding	Benign
4	113355251	C	T	C113355251T	ANK2	NM_001148.6(ANK2):c.6633C>T:p.Ala2211=	coding	Benign/Likely_benign
4	113355252	G	A	G113355252A	ANK2	NM_001148.6(ANK2):c.6634G>A:p.Gly2212Ser	coding	Benign
4	113355266	C	G	C113355266G	ANK2	NM_001148.6(ANK2):c.6648C>G:p.Gly2216=	coding	Benign/Likely_benign
4	113355524	C	T	C113355524T	ANK2	NM_001148.6(ANK2):c.6906C>T:p.Thr2302=	coding	Benign/Likely_benign
4	113355625	C	T	C113355625T	ANK2	NM_001148.6(ANK2):c.7007C>T:p.Ala2336Val	coding	Benign
4	113355677	A	G	A113355677G	ANK2	NM_001148.6(ANK2):c.7059A>G:p.Gln2353=	coding	Benign/Likely_benign
4	113355724	T	C	T113355724C	ANK2	NM_001148.6(ANK2):c.7106T>C:p.Val2369Ala	coding	Benign/Likely_benign
4	113355728	A	G	A113355728G	ANK2	NM_001148.6(ANK2):c.7110A>G:p.Gln2370=	coding	Benign
4	113355735	A	G	A113355735G	ANK2	NM_001148.6(ANK2):c.7117A>G:p.Thr2373Ala	coding	Benign/Likely_benign
4	113355885	G	A	G113355885A	ANK2	NM_001148.6(ANK2):c.7267G>A:p.Ala2423Thr	coding	Benign/Likely_benign
4	113356106	A	G	A113356106G	ANK2	NM_001148.6(ANK2):c.7488A>G:p.Thr2496=	coding	Benign/Likely_benign
4	113356449	T	C	T113356449C	ANK2	NM_001148.6(ANK2):c.7831T>C:p.Tyr2611His	coding	Benign/Likely_benign
4	113356520	G	A	G113356520A	ANK2	NM_001148.6(ANK2):c.7902G>A:p.Val2634=	coding	Benign/Likely_benign
4	113356526	A	G	A113356526G	ANK2	NM_001148.6(ANK2):c.7908A>G:p.Glu2636=	coding	Benign/Likely_benign
4	113356550	G	A	G113356550A	ANK2	NM_001148.6(ANK2):c.7932G>A:p.Glu2644=	coding	Benign/Likely_benign
4	113356561	G	A	G113356561A	ANK2	NM_001148.6(ANK2):c.7943G>A:p.Gly2648Asp	coding	Benign/Likely_benign
4	113356589	C	T	C113356589T	ANK2	NM_001148.6(ANK2):c.7971C>T:p.Ser2657=	coding	Benign/Likely_benign
4	113356858	G	A	G113356858A	ANK2	NM_001148.6(ANK2):c.8240G>A:p.Arg2747His	coding	Benign/Likely_benign
4	113356972	C	T	C113356972T	ANK2	NM_001148.6(ANK2):c.8354C>T:p.Ser2785Leu	coding	Benign/Likely_benign
4	113357006	G	A	G113357006A	ANK2	NM_001148.6(ANK2):c.8388G>A:p.Pro2796=	coding	Benign/Likely_benign
4	113357102	T	C	T113357102C	ANK2	NM_001148.6(ANK2):c.8484T>C:p.Asp2828=	coding	Benign/Likely_benign
4	113357121	C	T	C113357121T	ANK2	NM_001148.6(ANK2):c.8503C>T:p.Pro2835Ser	coding	Benign
4	113357213	A	C	A113357213C	ANK2	NM_001148.6(ANK2):c.8595A>C:p.Ile2865=	coding	Benign
4	113357276	A	G	A113357276G	ANK2	NM_001148.6(ANK2):c.8658A>G:p.Leu2886=	coding	Benign/Likely_benign
4	113357386	A	G	A113357386G	ANK2	NM_001148.6(ANK2):c.8768A>G:p.Gln2923Arg	coding	Benign/Likely_benign
4	113357679	G	A	G113357679A	ANK2	NM_001148.6(ANK2):c.9061G>A:p.Ala3021Thr	coding	Benign/Likely_benign
4	113358072	A	G	A113358072G	ANK2	NM_001148.6(ANK2):c.9454A>G:p.Thr3152Ala	coding	Benign/Likely_benign
4	113358266	A	G	A113358266G	ANK2	NM_001148.6(ANK2):c.9648A>G:p.Glu3216=	coding	Benign
4	113358472	T	C	T113358472C	ANK2	NM_001148.6(ANK2):c.9854T>C:p.Ile3285Thr	coding	Benign/Likely_benign
4	113358518	C	A	C113358518A	ANK2	NM_001148.6(ANK2):c.9900C>A:p.Ser3300Arg	coding	Benign/Likely_benign
4	113358554	C	T	C113358554T	ANK2	NM_001148.6(ANK2):c.9936C>T:p.Ser3312=	coding	Benign/Likely_benign
4	113358614	T	C	T113358614C	ANK2	NM_001148.6(ANK2):c.9996T>C:p.Ser3332=	coding	Benign
4	113358989	G	A	G113358989A	ANK2	NM_001148.6(ANK2):c.10371G>A:p.Thr3457=	coding	Benign/Likely_benign
4	113359010	G	A	G113359010A	ANK2	NM_001148.6(ANK2):c.10392G>A:p.Lys3464=	coding	Benign/Likely_benign
4	113359013	G	A	G113359013A	ANK2	NM_001148.6(ANK2):c.10395G>A:p.Glu3465=	coding	Benign/Likely_benign
4	113360848	C	T	C113360848T	ANK2	NM_001148.6(ANK2):c.10707C>T:p.Ile3569=	coding	Benign/Likely_benign
4	113363442	C	G	C113363442G	ANK2	NM_001148.6(ANK2):c.10861C>G:p.Leu3621Val	coding	Benign/Likely_benign
4	113363489	C	T	C113363489T	ANK2	NM_001148.6(ANK2):c.10888+20C>T	noncoding	Benign
4	113365074	C	T	C113365074T	ANK2	NM_001148.6(ANK2):c.10924C>T:p.Arg3642Ter	coding	Pathogenic
4	113367714	C	T	C113367714T	ANK2	NM_001148.6(ANK2):c.11181C>T:p.Gly3727=	coding	Benign/Likely_benign
4	113367751	C	A	C113367751A	ANK2	NM_001148.6(ANK2):c.11218C>A:p.Leu3740Ile	coding	Benign/Likely_benign
4	113367991	A	G	A113367991G	ANK2	NM_001148.6(ANK2):c.11318+140A>G	noncoding	Benign
4	113369660	G	C	G113369660C	ANK2	NM_001148.6(ANK2):c.11465G>C:p.Gly3822Ala	coding	Benign/Likely_benign
4	113373107	A	G	A113373107G	ANK2	NM_001148.6(ANK2):c.11628A>G:p.Glu3876=	coding	Benign/Likely_benign
4	113373152	T	C	T113373152C	ANK2	NM_001148.6(ANK2):c.11673T>C:p.His3891=	coding	Benign
4	113373192	T	A	T113373192A	ANK2	NM_001148.6(ANK2):c.11694+19T>A	noncoding	Benign
4	113373308	G	A	G113373308A	ANK2	NM_001148.6(ANK2):c.11718G>A:p.Arg3906=	coding	Benign/Likely_benign
4	113373351	C	T	C113373351T	ANK2	NM_001148.6(ANK2):c.11761C>T:p.Gln3921Ter	coding	Pathogenic
4	113373380	C	T	C113373380T	ANK2	NM_001148.6(ANK2):c.11790C>T:p.Ile3930=	coding	Benign
4	113373381	G	A	G113373381A	ANK2	NM_001148.6(ANK2):c.11791G>A:p.Glu3931Lys	coding	Benign/Likely_benign
4	113381439	T	G	T113381439G	ANK2	NM_001148.6(ANK2):c.11860-18T>G	noncoding	Benign
4	113381478	C	T	C113381478T	ANK2	NM_001148.4(ANK2):c.*7C>T	noncoding	Benign
4	113381917	T	C	T113381917C	ANK2	NM_001148.6(ANK2):c.*446T>C	noncoding	Benign
4	113382379	A	G	A113382379G	ANK2	NM_001148.6(ANK2):c.*908A>G	noncoding	Benign
4	113515168	C	T	C113515168T	CAMK2D	NM_001321571.2(CAMK2D):c.720G>A:p.Thr240=	coding	Benign
4	113515201	T	C	T113515201C	CAMK2D	NM_001321571.2(CAMK2D):c.697-10A>G	noncoding	Benign
4	113517662	A	G	A113517662G	CAMK2D	NM_001321571.2(CAMK2D):c.602-5T>C	noncoding	Benign
4	113537357	G	T	G113537357T	CAMK2D	NM_001321571.2(CAMK2D):c.501C>A:p.Asp167Glu	coding	Benign
4	114623498	G	T	G114623498T	UGT8	NM_001128174.3(UGT8):c.618G>T:p.Gly206=	coding	Benign
4	117084302	C	T	C117084302T	TRAM1L1	NM_152402.3(TRAM1L1):c.1092G>A:p.Arg364=	coding	Benign
4	118280341	T	C	T118280341C	PRSS12	NM_003619.4(PRSS12):c.*1595A>G	noncoding	Benign
4	118281024	C	T	C118281024T	PRSS12	NM_003619.4(PRSS12):c.*912G>A	noncoding	Benign
4	118281264	G	A	G118281264A	PRSS12	NM_003619.4(PRSS12):c.*672C>T	noncoding	Benign
4	118282029	G	A	G118282029A	PRSS12	NM_003619.4(PRSS12):c.2535C>T:p.Ser845=	coding	Benign
4	118298797	G	A	G118298797A	PRSS12	NM_003619.4(PRSS12):c.1773C>T:p.His591=	coding	Benign/Likely_benign
4	118308584	C	T	C118308584T	PRSS12	NM_003619.4(PRSS12):c.1490-7G>A	noncoding	Benign/Likely_benign
4	118316193	T	C	T118316193C	PRSS12	NM_003619.4(PRSS12):c.1281A>G:p.Gln427=	coding	Benign
4	118316202	A	C	A118316202C	PRSS12	NM_003619.4(PRSS12):c.1272T>G:p.Val424=	coding	Benign
4	118316204	C	T	C118316204T	PRSS12	NM_003619.4(PRSS12):c.1270G>A:p.Val424Ile	coding	Benign/Likely_benign
4	118318384	G	A	G118318384A	PRSS12	NM_003619.4(PRSS12):c.1144C>T:p.Leu382=	coding	Benign
4	118331811	C	T	C118331811T	PRSS12	NM_003619.4(PRSS12):c.876G>A:p.Arg292=	coding	Benign
4	118335648	T	C	T118335648C	PRSS12	NM_003619.4(PRSS12):c.645A>G:p.Gly215=	coding	Benign
4	118352281	G	A	G118352281A	PRSS12	NM_003619.4(PRSS12):c.440C>T:p.Pro147Leu	coding	Benign/Likely_benign
4	118352557	C	G	C118352557G	PRSS12	NM_003619.4(PRSS12):c.164G>C:p.Arg55Thr	coding	Benign
4	118352670	T	C	T118352670C	PRSS12	NM_003619.4(PRSS12):c.51A>G:p.Glu17=	coding	Benign/Likely_benign
4	118352693	G	C	G118352693C	PRSS12	NM_003619.4(PRSS12):c.28C>G:p.Leu10Val	coding	Benign/Likely_benign
4	118723570	G	A	G118723570A	SEC24D	NM_014822.4(SEC24D):c.3044C>T:p.Ser1015Phe	coding	Pathogenic
4	118728586	T	G	T118728586G	SEC24D	NM_014822.4(SEC24D):c.2933A>C:p.Gln978Pro	coding	Pathogenic
4	118731342	A	G	A118731342G	SEC24D	NM_014822.4(SEC24D):c.2842T>C:p.Ser948Pro	coding	Pathogenic
4	118731400	G	T	G118731400T	SEC24D	NM_014822.4(SEC24D):c.2784C>A:p.Phe928Leu	coding	Benign
4	118731461	C	T	C118731461T	SEC24D	NM_014822.4(SEC24D):c.2723G>A:p.Cys908Tyr	coding	Pathogenic
4	118732873	T	C	T118732873C	SEC24D	NM_014822.4(SEC24D):c.2536A>G:p.Met846Val	coding	Benign
4	118732881	G	A	G118732881A	SEC24D	NM_014822.4(SEC24D):c.2528C>T:p.Pro843Leu	coding	Benign
4	118738261	C	A	C118738261A	SEC24D	NM_014822.4(SEC24D):c.2496G>T:p.Gln832His	coding	Pathogenic
4	118744099	G	A	G118744099A	SEC24D	NM_014822.4(SEC24D):c.1884C>T:p.His628=	coding	Benign
4	118752734	G	A	G118752734A	SEC24D	NM_014822.4(SEC24D):c.1576C>T:p.Leu526Phe	coding	Benign
4	118752860	G	A	G118752860A	SEC24D	NM_014822.4(SEC24D):c.1450C>T:p.Arg484Ter	coding	Pathogenic
4	118752870	C	T	C118752870T	SEC24D	NM_014822.4(SEC24D):c.1440G>A:p.Thr480=	coding	Benign
4	118764873	G	A	G118764873A	SEC24D	NM_014822.4(SEC24D):c.1225C>T:p.Leu409=	coding	Benign
4	118768317	G	C	G118768317C	SEC24D	NM_014822.4(SEC24D):c.1042-6C>G	noncoding	Benign/Likely_benign
4	118797786	C	T	C118797786T	SEC24D	NM_014822.4(SEC24D):c.938G>A:p.Arg313His	coding	Pathogenic
4	118805881	G	A	G118805881A	SEC24D	NM_014822.4(SEC24D):c.875C>T:p.Pro292Leu	coding	Pathogenic
4	118805934	A	C	A118805934C	SEC24D	NM_014822.4(SEC24D):c.822T>G:p.Asp274Glu	coding	Benign
4	118815129	C	T	C118815129T	SEC24D	NM_014822.4(SEC24D):c.700G>A:p.Ala234Thr	coding	Benign
4	118815471	G	C	G118815471C	SEC24D	NM_014822.4(SEC24D):c.653C>G:p.Ala218Gly	coding	Benign
4	118815511	G	A	G118815511A	SEC24D	NM_014822.4(SEC24D):c.613C>T:p.Gln205Ter	coding	Pathogenic
4	118815546	G	A	G118815546A	SEC24D	NM_014822.4(SEC24D):c.578C>T:p.Pro193Leu	coding	Benign/Likely_benign
4	118815641	A	C	A118815641C	SEC24D	NM_014822.4(SEC24D):c.483T>G:p.Pro161=	coding	Benign
4	118815695	G	A	G118815695A	SEC24D	NM_014822.4(SEC24D):c.429C>T:p.Pro143=	coding	Benign
4	118824613	A	G	A118824613G	SEC24D	NM_014822.4(SEC24D):c.248+7T>C	noncoding	Benign
4	118824659	C	A	C118824659A	SEC24D	NM_014822.4(SEC24D):c.209G>T:p.Gly70Val	coding	Benign
4	118824729	G	A	G118824729A	SEC24D	NM_014822.4(SEC24D):c.139C>T:p.Pro47Ser	coding	Benign
4	118824743	A	G	A118824743G	SEC24D	NM_014822.4(SEC24D):c.125T>C:p.Met42Thr	coding	Benign
4	118833611	T	C	T118833611C	SEC24D	NM_014822.4(SEC24D):c.86A>G:p.Tyr29Cys	coding	Benign
4	119029933	T	G	T119029933G	SYNPO2	NM_133477.3(SYNPO2):c.1158T>G:p.Ala386=	coding	Benign
4	119031434	G	A	G119031434A	SYNPO2	NM_133477.3(SYNPO2):c.2659G>A:p.Val887Met	coding	Benign
4	119031946	A	C	A119031946C	SYNPO2	NM_133477.3(SYNPO2):c.3171A>C:p.Pro1057=	coding	Benign
4	119057548	G	A	G119057548A	SYNPO2	NM_133477.3(SYNPO2):c.3400G>A:p.Ala1134Thr	coding	Benign
4	119057846	T	C	T119057846C	SYNPO2	NM_133477.3(SYNPO2):c.3698T>C:p.Met1233Thr	coding	Benign
4	119057892	C	T	C119057892T	SYNPO2	NM_133477.3(SYNPO2):c.3744C>T:p.Tyr1248=	coding	Benign
4	119135955	C	T	C119135955T	MYOZ2	NM_016599.4(MYOZ2):c.-42C>T	noncoding	Benign
4	119136400	G	A	G119136400A	MYOZ2	NM_016599.4(MYOZ2):c.-14-112G>A	noncoding	Benign
4	119136554	A	C	A119136554C	MYOZ2	NM_016599.5(MYOZ2):c.29A>C:p.Gln10Pro	coding	Benign/Likely_benign
4	119136564	G	A	G119136564A	MYOZ2	NM_016599.5(MYOZ2):c.39G>A:p.Gln13=	coding	Benign/Likely_benign
4	119136620	C	T	C119136620T	MYOZ2	NM_016599.4(MYOZ2):c.76+19C>T	noncoding	Benign
4	119136621	G	A	G119136621A	MYOZ2	NM_016599.4(MYOZ2):c.76+20G>A	noncoding	Benign
4	119150771	T	C	T119150771C	MYOZ2	NM_016599.4(MYOZ2):c.77-101T>C	noncoding	Benign
4	119150937	T	C	T119150937C	MYOZ2	NM_016599.4(MYOZ2):c.142T>C:p.Ser48Pro	coding	Pathogenic
4	119151032	A	G	A119151032G	MYOZ2	NM_016599.5(MYOZ2):c.237A>G:p.Ala79=	coding	Benign
4	119151040	A	C	A119151040C	MYOZ2	NM_016599.5(MYOZ2):c.245A>C:p.Asn82Thr	coding	Benign/Likely_benign
4	119151078	G	C	G119151078C	MYOZ2	NM_016599.4(MYOZ2):c.246+37G>C	noncoding	Benign
4	119151083	A	G	A119151083G	MYOZ2	NM_016599.4(MYOZ2):c.246+42A>G	noncoding	Benign
4	119151120	G	C	G119151120C	MYOZ2	NM_016599.4(MYOZ2):c.246+79G>C	noncoding	Benign
4	119158004	A	G	A119158004G	MYOZ2	NM_016599.4(MYOZ2):c.247-18A>G	noncoding	Benign
4	119158135	A	G	A119158135G	MYOZ2	NM_016599.5(MYOZ2):c.360A>G:p.Pro120=	coding	Benign
4	119158232	G	A	G119158232A	MYOZ2	NM_016599.4(MYOZ2):c.376+81G>A	noncoding	Benign
4	119163989	A	T	A119163989T	MYOZ2	NM_016599.4(MYOZ2):c.377-222A>T	noncoding	Benign
4	119164293	A	G	A119164293G	MYOZ2	NM_016599.5(MYOZ2):c.459A>G:p.Glu153=	coding	Benign
4	119164521	A	G	A119164521G	MYOZ2	NM_016599.4(MYOZ2):c.560+127A>G	noncoding	Benign
4	119185827	T	C	T119185827C	MYOZ2	NM_016599.4(MYOZ2):c.561-139T>C	noncoding	Benign
4	119186143	A	G	A119186143G	MYOZ2	NM_016599.5(MYOZ2):c.738A>G:p.Ile246Met	coding	Benign/Likely_benign
4	119186155	C	T	C119186155T	MYOZ2	NM_016599.5(MYOZ2):c.750C>T:p.Thr250=	coding	Benign
4	119245361	C	T	C119245361T	USP53	NM_019050.2(USP53):c.169C>T:p.Arg57Ter	coding	Pathogenic
4	119248751	A	T	A119248751T	USP53	NM_019050.2(USP53):c.241A>T:p.Ile81Leu	coding	Benign
4	119248807	G	T	G119248807T	USP53	NM_019050.2(USP53):c.297G>T:p.Arg99Ser	coding	Pathogenic
4	119256525	T	C	T119256525C	USP53	NM_019050.2(USP53):c.569+2T>C	noncoding	Pathogenic
4	119267359	C	T	C119267359T	USP53	NM_019050.2(USP53):c.1012C>T:p.Arg338Ter	coding	Pathogenic
4	119269828	C	T	C119269828T	USP53	NM_019050.2(USP53):c.1426C>T:p.Arg476Ter	coding	Pathogenic
4	119271418	C	T	C119271418T	USP53	NM_019050.2(USP53):c.1558C>T:p.Arg520Ter	coding	Pathogenic
4	119320747	T	C	T119320747C	FABP2	NM_000134.4(FABP2):c.163A>G:p.Thr55Ala	coding	Benign
4	119501236	C	T	C119501236T	PDE5A	NM_001083.4(PDE5A):c.2424G>A:p.Glu808=	coding	Benign
4	119502607	T	G	T119502607G	PDE5A	NM_001083.4(PDE5A):c.2380A>C:p.Arg794=	coding	Benign
4	119505936	C	T	C119505936T	PDE5A	NM_001083.4(PDE5A):c.2190-4G>A	noncoding	Benign
4	119511122	T	G	T119511122G	PDE5A	NM_001083.4(PDE5A):c.2013A>C:p.Pro671=	coding	Benign
4	119519123	A	G	A119519123G	PDE5A	NM_001083.4(PDE5A):c.1922T>C:p.Leu641Pro	coding	Benign
4	119542593	T	G	T119542593G	PDE5A	NM_001083.4(PDE5A):c.1438A>C:p.Lys480Gln	coding	Benign
4	119542606	C	T	C119542606T	PDE5A	NM_001083.4(PDE5A):c.1425G>A:p.Glu475=	coding	Benign
4	119607094	T	A	T119607094A	PDE5A	NM_001083.4(PDE5A):c.356A>T:p.Glu119Val	coding	Benign
4	120060168	T	C	T120060168C	MAD2L1	NM_002358.4(MAD2L1):c.568A>G:p.Ile190Val	coding	Benign
4	120695236	G	A	G120695236A	PRDM5	NM_001300824.1(PRDM5):c.*83C>T	coding	Pathogenic
4	120710023	C	T	C120710023T	PRDM5	NM_018699.3(PRDM5):c.1728+286G>A	noncoding	Benign
4	120710405	C	T	C120710405T	PRDM5	NM_018699.3(PRDM5):c.1632G>A:p.Pro544=	coding	Benign/Likely_benign
4	120754925	A	C	A120754925C	PRDM5	NM_018699.3(PRDM5):c.1538-287T>G	noncoding	Benign
4	120780856	G	C	G120780856C	PRDM5	NM_018699.3(PRDM5):c.1443+287C>G	noncoding	Benign
4	120781203	A	G	A120781203G	PRDM5	NM_018699.3(PRDM5):c.1383T>C:p.Tyr461=	coding	Benign
4	120785007	T	C	T120785007C	PRDM5	NM_018699.3(PRDM5):c.1273A>G:p.Ile425Val	coding	Benign
4	120785046	A	G	A120785046G	PRDM5	NM_018699.3(PRDM5):c.1234T>C:p.Leu412=	coding	Benign
4	120785333	T	A	T120785333A	PRDM5	NM_018699.3(PRDM5):c.1189-242A>T	noncoding	Benign
4	120797958	C	T	C120797958T	PRDM5	NM_018699.3(PRDM5):c.1188+309G>A	noncoding	Benign
4	120799728	A	G	A120799728G	PRDM5	NM_018699.3(PRDM5):c.963T>C:p.Asp321=	coding	Benign
4	120811096	C	G	C120811096G	PRDM5	NM_018699.3(PRDM5):c.945+274G>C	noncoding	Benign
4	120816133	G	A	G120816133A	PRDM5	NM_018699.3(PRDM5):c.865+320C>T	noncoding	Benign
4	120816469	C	T	C120816469T	PRDM5	NM_018699.3(PRDM5):c.849G>A:p.Gln283=	coding	Benign/Likely_benign
4	120816818	C	T	C120816818T	PRDM5	NM_018699.3(PRDM5):c.743+14G>A	noncoding	Benign
4	120816894	T	C	T120816894C	PRDM5	NM_018699.3(PRDM5):c.681A>G:p.Leu227=	coding	Benign
4	120816915	C	T	C120816915T	PRDM5	NM_018699.3(PRDM5):c.660G>A:p.Gln220=	coding	Benign/Likely_benign
4	120818512	T	A	T120818512A	PRDM5	NM_018699.3(PRDM5):c.491A>T:p.Lys164Ile	coding	Benign
4	120821326	T	C	T120821326C	PRDM5	NM_018699.3(PRDM5):c.320A>G:p.Tyr107Cys	coding	Pathogenic
4	120821615	G	A	G120821615A	PRDM5	NM_018699.3(PRDM5):c.301-270C>T	noncoding	Benign
4	120853471	G	A	G120853471A	PRDM5	NM_018699.4(PRDM5):c.247C>T:p.Arg83Cys	coding	Pathogenic
4	120922514	A	G	A120922514G	PRDM5	NM_018699.3(PRDM5):c.93+2T>C	noncoding	Pathogenic
4	120922515	C	T	C120922515T	PRDM5	NM_018699.3(PRDM5):c.93+1G>A	noncoding	Pathogenic
4	121036565	C	T	C121036565T	NDNF	NM_024574.4(NDNF):c.1406G>A:p.Trp469Ter	coding	Pathogenic
4	121045654	T	A	T121045654A	NDNF	NM_024574.4(NDNF):c.184A>T:p.Lys62Ter	coding	Pathogenic
4	121677915	A	G	A121677915G	ANXA5	NM_001154.4(ANXA5):c.510T>C:p.Ala170=	coding	Benign
4	121804718	C	T	C121804718T	EXOSC9	NM_005033.3(EXOSC9):c.481C>T:p.Arg161Ter	coding	Pathogenic
4	121822482	C	T	C121822482T	CCNA2	NM_001237.5(CCNA2):c.378G>A:p.Leu126=	coding	Benign
4	121822526	T	C	T121822526C	CCNA2	NM_001237.5(CCNA2):c.334A>G:p.Lys112Glu	coding	Benign
4	121822638	G	T	G121822638T	CCNA2	NM_001237.5(CCNA2):c.222C>A:p.Pro74=	coding	Benign
4	121824574	C	T	C121824574T	BBS7	NM_176824.3(BBS7):c.*1286G>A	noncoding	Benign
4	121824658	C	T	C121824658T	BBS7	NM_176824.3(BBS7):c.*1202G>A	noncoding	Benign
4	121824928	A	C	A121824928C	BBS7	NM_176824.3(BBS7):c.*932T>G	noncoding	Benign
4	121825170	A	G	A121825170G	BBS7	NM_176824.3(BBS7):c.*690T>C	noncoding	Benign
4	121825441	A	T	A121825441T	BBS7	NM_176824.3(BBS7):c.*419T>A	noncoding	Benign
4	121825610	A	C	A121825610C	BBS7	NM_176824.3(BBS7):c.*250T>G	noncoding	Benign
4	121828281	G	T	G121828281T	BBS7	NM_176824.3(BBS7):c.1891-12C>A	noncoding	Benign
4	121828386	C	T	C121828386T	BBS7	NM_176824.3(BBS7):c.1890+16G>A	noncoding	Benign
4	121833250	G	A	G121833250A	BBS7	NM_176824.3(BBS7):c.1657C>T:p.Gln553Ter	coding	Pathogenic
4	121833402	T	A	T121833402A	BBS7	NM_176824.3(BBS7):c.1512-7A>T	noncoding	Benign/Likely_benign
4	121835119	G	T	G121835119T	BBS7	NM_176824.3(BBS7):c.1511+25C>A	noncoding	Benign
4	121835242	A	T	A121835242T	BBS7	NM_176824.3(BBS7):c.1413T>A:p.Tyr471Ter	coding	Pathogenic
4	121839629	A	G	A121839629G	BBS7	NM_176824.3(BBS7):c.1371+2T>C	noncoding	Pathogenic
4	121847426	G	A	G121847426A	BBS7	NM_176824.3(BBS7):c.1015C>T:p.Gln339Ter	coding	Pathogenic
4	121847473	T	C	T121847473C	BBS7	NM_176824.3(BBS7):c.968A>G:p.His323Arg	coding	Pathogenic/Likely_pathogenic
4	121847492	G	C	G121847492C	BBS7	NM_176824.3(BBS7):c.949C>G:p.Leu317Val	coding	Pathogenic
4	121848812	T	C	T121848812C	BBS7	NM_176824.3(BBS7):c.934+32A>G	noncoding	Benign
4	121848898	C	G	C121848898G	BBS7	NM_176824.3(BBS7):c.880G>C:p.Gly294Arg	coding	Pathogenic
4	121852967	G	A	G121852967A	BBS7	NM_176824.3(BBS7):c.838C>T:p.Arg280Ter	coding	Pathogenic
4	121853015	C	T	C121853015T	BBS7	NM_176824.3(BBS7):c.790G>A:p.Gly264Arg	coding	Pathogenic
4	121853042	T	A	T121853042A	BBS7	NM_176824.3(BBS7):c.763A>T:p.Lys255Ter	coding	Pathogenic
4	121854790	G	A	G121854790A	BBS7	NM_176824.3(BBS7):c.632C>T:p.Thr211Ile	coding	Pathogenic
4	121861659	G	A	G121861659A	BBS7	NM_176824.3(BBS7):c.186C>T:p.Pro62=	coding	Benign
4	121861724	G	A	G121861724A	BBS7	NM_176824.3(BBS7):c.166-45C>T	noncoding	Benign
4	121870446	G	C	G121870446C	BBS7	NM_176824.3(BBS7):c.-133C>G	noncoding	Benign
4	121879816	T	C	T121879816C	TRPC3	NM_001130698.2(TRPC3):c.2686A>G:p.Ser896Gly	coding	Benign
4	121903030	C	T	C121903030T	TRPC3	NM_001130698.2(TRPC3):c.2285G>A:p.Arg762His	coding	Pathogenic
4	121914825	G	A	G121914825A	TRPC3	NM_001130698.2(TRPC3):c.1296C>T:p.Gly432=	coding	Benign
4	121932454	C	T	C121932454T	TRPC3	NM_001130698.2(TRPC3):c.804G>A:p.Lys268=	coding	Benign
4	122173160	T	G	T122173160G	KIAA1109	NM_015312.3(KIAA1109):c.214+8T>G	noncoding	Benign
4	122187927	G	A	G122187927A	KIAA1109	NM_015312.3(KIAA1109):c.660G>A:p.Pro220=	coding	Benign
4	122192239	G	A	G122192239A	KIAA1109	NM_015312.3(KIAA1109):c.912G>A:p.Pro304=	coding	Benign
4	122199459	G	A	G122199459A	KIAA1109	NM_015312.3(KIAA1109):c.1380+9G>A	noncoding	Benign
4	122207168	T	A	T122207168A	KIAA1109	NM_015312.3(KIAA1109):c.1557T>A:p.Tyr519Ter	coding	Pathogenic/Likely_pathogenic
4	122219447	A	T	A122219447T	KIAA1109	NM_015312.3(KIAA1109):c.2355A>T:p.Gly785=	coding	Benign
4	122226815	C	T	C122226815T	KIAA1109	NM_015312.3(KIAA1109):c.2902C>T:p.Arg968Cys	coding	Pathogenic
4	122239527	A	G	A122239527G	KIAA1109	NM_015312.3(KIAA1109):c.3845A>G:p.Glu1282Gly	coding	Benign
4	122239668	A	G	A122239668G	KIAA1109	NM_015312.3(KIAA1109):c.3986A>G:p.Tyr1329Cys	coding	Pathogenic
4	122249571	G	A	G122249571A	KIAA1109	NM_015312.3(KIAA1109):c.5599G>A:p.Val1867Met	coding	Pathogenic
4	122254811	G	A	G122254811A	KIAA1109	NM_015312.3(KIAA1109):c.6081G>A:p.Leu2027=	coding	Benign
4	122254890	T	C	T122254890C	KIAA1109	NM_015312.3(KIAA1109):c.6160T>C:p.Leu2054=	coding	Benign
4	122309365	G	C	G122309365C	KIAA1109	NM_015312.3(KIAA1109):c.10153G>C:p.Gly3385Arg	coding	Pathogenic
4	122324474	C	T	C122324474T	KIAA1109	NM_015312.3(KIAA1109):c.10842C>T:p.Tyr3614=	coding	Benign
4	122328203	C	A	C122328203A	KIAA1109	NM_015312.3(KIAA1109):c.11095C>A:p.Pro3699Thr	coding	Benign
4	122353959	C	T	C122353959T	KIAA1109	NM_015312.3(KIAA1109):c.14247C>T:p.Pro4749=	coding	Benign
4	122355866	G	A	G122355866A	KIAA1109	NM_015312.3(KIAA1109):c.14376G>A:p.Leu4792=	coding	Benign
4	122612728	G	A	G122612728A	IL21	NM_021803.4(IL21):c.471C>T:p.His157=	coding	Benign
4	122615808	G	A	G122615808A	IL21	NM_021803.4(IL21):c.234C>T:p.Cys78=	coding	Benign
4	122620866	A	G	A122620866G	IL21	NM_021803.4(IL21):c.146T>C:p.Leu49Pro	coding	Pathogenic
4	122732771	G	A	G122732771A	BBS12	NM_152618.3(BBS12):c.-124G>A	noncoding	Benign
4	122741943	A	G	A122741943G	BBS12	NM_152618.3(BBS12):c.51A>G:p.Gln17=	coding	Benign
4	122741996	C	A	C122741996A	BBS12	NM_152618.3(BBS12):c.104C>A:p.Ser35Ter	coding	Pathogenic
4	122741997	A	T	A122741997T	BBS12	NM_152618.3(BBS12):c.105A>T:p.Ser35=	coding	Benign
4	122742215	C	G	C122742215G	BBS12	NM_152618.3(BBS12):c.323C>G:p.Pro108Arg	coding	Pathogenic
4	122742247	G	A	G122742247A	BBS12	NM_152618.3(BBS12):c.355G>A:p.Gly119Ser	coding	Benign/Likely_benign
4	122742270	G	T	G122742270T	BBS12	NM_152618.3(BBS12):c.378G>T:p.Glu126Asp	coding	Benign/Likely_benign
4	122742790	C	T	C122742790T	BBS12	NM_152618.3(BBS12):c.898C>T:p.Gln300Ter	coding	Pathogenic
4	122742954	G	C	G122742954C	BBS12	NM_152618.3(BBS12):c.1062G>C:p.Val354=	coding	Benign
4	122742955	C	T	C122742955T	BBS12	NM_152618.3(BBS12):c.1063C>T:p.Arg355Ter	coding	Pathogenic
4	122742995	G	A	G122742995A	BBS12	NM_152618.3(BBS12):c.1103G>A:p.Arg368His	coding	Benign/Likely_benign
4	122743049	G	A	G122743049A	BBS12	NM_152618.3(BBS12):c.1157G>A:p.Arg386Gln	coding	Benign
4	122743092	G	A	G122743092A	BBS12	NM_152618.3(BBS12):c.1200G>A:p.Val400=	coding	Benign
4	122743099	G	A	G122743099A	BBS12	NM_152618.3(BBS12):c.1207G>A:p.Val403Met	coding	Benign
4	122743101	G	A	G122743101A	BBS12	NM_152618.3(BBS12):c.1209G>A:p.Val403=	coding	Benign
4	122743178	G	C	G122743178C	BBS12	NM_152618.3(BBS12):c.1286G>C:p.Ser429Thr	coding	Benign
4	122743179	T	C	T122743179C	BBS12	NM_152618.3(BBS12):c.1287T>C:p.Ser429=	coding	Benign/Likely_benign
4	122743267	C	T	C122743267T	BBS12	NM_152618.3(BBS12):c.1375C>T:p.Gln459Ter	coding	Pathogenic/Likely_pathogenic
4	122743272	G	C	G122743272C	BBS12	NM_152618.3(BBS12):c.1380G>C:p.Val460=	coding	Benign
4	122743273	A	C	A122743273C	BBS12	NM_152618.3(BBS12):c.1381A>C:p.Asn461His	coding	Benign/Likely_benign
4	122743290	C	T	C122743290T	BBS12	NM_152618.3(BBS12):c.1398C>T:p.Gly466=	coding	Benign
4	122743291	G	A	G122743291A	BBS12	NM_152618.3(BBS12):c.1399G>A:p.Asp467Asn	coding	Benign
4	122743302	C	T	C122743302T	BBS12	NM_152618.3(BBS12):c.1410C>T:p.Cys470=	coding	Benign
4	122743343	G	A	G122743343A	BBS12	NM_152618.3(BBS12):c.1451G>A:p.Arg484Lys	coding	Benign/Likely_benign
4	122743394	C	T	C122743394T	BBS12	NM_152618.3(BBS12):c.1502C>T:p.Thr501Met	coding	Pathogenic/Likely_pathogenic
4	122743596	G	A	G122743596A	BBS12	NM_152618.3(BBS12):c.1704G>A:p.Trp568Ter	coding	Pathogenic
4	122743739	G	A	G122743739A	BBS12	NM_152618.3(BBS12):c.1847G>A:p.Ser616Asn	coding	Benign
4	122743764	A	G	A122743764G	BBS12	NM_152618.3(BBS12):c.1872A>G:p.Gln624=	coding	Benign
4	122743841	C	G	C122743841G	BBS12	NM_152618.3(BBS12):c.1949C>G:p.Ser650Ter	coding	Pathogenic/Likely_pathogenic
4	122743906	G	A	G122743906A	BBS12	NM_152618.3(BBS12):c.2014G>A:p.Ala672Thr	coding	Benign
4	122743915	C	T	C122743915T	BBS12	NM_152618.3(BBS12):c.2023C>T:p.Arg675Ter	coding	Pathogenic/Likely_pathogenic
4	122744273	G	A	G122744273A	BBS12	NM_152618.3(BBS12):c.*248G>A	noncoding	Benign
4	122744638	T	C	T122744638C	BBS12	NM_152618.3(BBS12):c.*613T>C	noncoding	Benign
4	122744836	C	G	C122744836G	BBS12	NM_152618.3(BBS12):c.*811C>G	noncoding	Benign
4	122923222	G	C	G122923222C	SPATA5	NM_145207.3(SPATA5):c.80G>C:p.Cys27Ser	coding	Benign
4	122927720	C	T	C122927720T	SPATA5	NM_145207.3(SPATA5):c.250C>T:p.Arg84Ter	coding	Pathogenic
4	122927721	G	A	G122927721A	SPATA5	NM_145207.3(SPATA5):c.251G>A:p.Arg84Gln	coding	Pathogenic/Likely_pathogenic
4	122929049	G	A	G122929049A	SPATA5	NM_145207.3(SPATA5):c.298G>A:p.Ala100Thr	coding	Pathogenic
4	122929139	C	T	C122929139T	SPATA5	NM_145207.3(SPATA5):c.388C>T:p.Gln130Ter	coding	Pathogenic
4	122929145	C	T	C122929145T	SPATA5	NM_145207.3(SPATA5):c.394C>T:p.Gln132Ter	coding	Pathogenic
4	122934147	C	T	C122934147T	SPATA5	NM_145207.3(SPATA5):c.556C>T:p.Arg186Ter	coding	Pathogenic
4	122934171	C	T	C122934171T	SPATA5	NM_145207.3(SPATA5):c.580C>T:p.Arg194Ter	coding	Pathogenic
4	122934252	C	T	C122934252T	SPATA5	NM_145207.3(SPATA5):c.661C>T:p.Gln221Ter	coding	Pathogenic
4	122934291	C	T	C122934291T	SPATA5	NM_145207.3(SPATA5):c.700C>T:p.Gln234Ter	coding	Pathogenic
4	122934358	T	C	T122934358C	SPATA5	NM_145207.3(SPATA5):c.767T>C:p.Ile256Thr	coding	Benign
4	122934398	G	T	G122934398T	SPATA5	NM_145207.3(SPATA5):c.807G>T:p.Leu269=	coding	Benign
4	122934621	C	T	C122934621T	SPATA5	NM_145207.3(SPATA5):c.1030C>T:p.Gln344Ter	coding	Pathogenic
4	122934637	A	G	A122934637G	SPATA5	NM_145207.3(SPATA5):c.1046A>G:p.Lys349Arg	coding	Benign
4	122934660	G	T	G122934660T	SPATA5	NM_145207.3(SPATA5):c.1069G>T:p.Gly357Ter	coding	Pathogenic
4	122934722	G	A	G122934722A	SPATA5	NM_145207.3(SPATA5):c.1131G>A:p.Glu377=	coding	Benign
4	122936155	C	T	C122936155T	SPATA5	NM_145207.3(SPATA5):c.1333C>T:p.Arg445Ter	coding	Pathogenic
4	122938134	C	T	C122938134T	SPATA5	NM_145207.3(SPATA5):c.1343C>T:p.Ser448Leu	coding	Pathogenic
4	122947078	A	G	A122947078G	SPATA5	NM_145207.3(SPATA5):c.1459-155A>G	noncoding	Benign
4	122947124	G	T	G122947124T	SPATA5	NM_145207.3(SPATA5):c.1459-109G>T	noncoding	Benign
4	122947301	C	T	C122947301T	SPATA5	NM_145207.3(SPATA5):c.1527C>T:p.Leu509=	coding	Benign
4	122947302	C	T	C122947302T	SPATA5	NM_145207.3(SPATA5):c.1528C>T:p.Arg510Ter	coding	Pathogenic
4	122947314	C	T	C122947314T	SPATA5	NM_145207.3(SPATA5):c.1540C>T:p.Arg514Ter	coding	Pathogenic
4	122947353	C	T	C122947353T	SPATA5	NM_145207.3(SPATA5):c.1579C>T:p.Gln527Ter	coding	Pathogenic
4	122947377	A	T	A122947377T	SPATA5	NM_145207.3(SPATA5):c.1603A>T:p.Lys535Ter	coding	Pathogenic
4	122947386	C	T	C122947386T	SPATA5	NM_145207.3(SPATA5):c.1612C>T:p.Arg538Ter	coding	Pathogenic
4	122947390	G	T	G122947390T	SPATA5	NM_145207.3(SPATA5):c.1616G>T:p.Arg539Met	coding	Benign
4	122947451	C	A	C122947451A	SPATA5	NM_145207.3(SPATA5):c.1677C>A:p.Tyr559Ter	coding	Pathogenic
4	122947489	G	A	G122947489A	SPATA5	NM_145207.3(SPATA5):c.1714+1G>A	coding	Pathogenic
4	122979264	C	T	C122979264T	SPATA5	NM_145207.3(SPATA5):c.1747C>T:p.Gln583Ter	coding	Pathogenic
4	122979302	G	T	G122979302T	SPATA5	NM_145207.3(SPATA5):c.1785G>T:p.Val595=	coding	Benign
4	123028199	A	G	A123028199G	SPATA5	NM_145207.3(SPATA5):c.1883A>G:p.Asp628Gly	coding	Pathogenic/Likely_pathogenic
4	123028234	G	C	G123028234C	SPATA5	NM_145207.3(SPATA5):c.1918G>C:p.Glu640Gln	coding	Benign
4	123028279	C	T	C123028279T	SPATA5	NM_145207.3(SPATA5):c.1963C>T:p.Arg655Ter	coding	Pathogenic
4	123028354	G	T	G123028354T	SPATA5	NM_145207.3(SPATA5):c.2038G>T:p.Ala680Ser	coding	Pathogenic
4	123028401	G	A	G123028401A	SPATA5	NM_145207.3(SPATA5):c.2079+6G>A	noncoding	Benign
4	123057215	C	T	C123057215T	SPATA5	NM_145207.3(SPATA5):c.2140C>T:p.Arg714Ter	coding	Pathogenic
4	123256160	G	T	G123256160T	SPATA5	NM_145207.3(SPATA5):c.2485G>T:p.Asp829Tyr	coding	Benign
4	125316086	A	G	A125316086G	FAT4	NM_024582.4(FAT4):c.-326A>G	noncoding	Benign
4	125316816	C	T	C125316816T	FAT4	NM_024582.4(FAT4):c.405C>T:p.Phe135=	coding	Benign
4	125317242	G	A	G125317242A	FAT4	NM_024582.4(FAT4):c.831G>A:p.Ala277=	coding	Benign
4	125317512	A	G	A125317512G	FAT4	NM_024582.4(FAT4):c.1101A>G:p.Val367=	coding	Benign
4	125317769	A	T	A125317769T	FAT4	NM_024582.4(FAT4):c.1358A>T:p.Gln453Leu	coding	Benign
4	125318727	A	G	A125318727G	FAT4	NM_024582.4(FAT4):c.2316A>G:p.Gln772=	coding	Benign/Likely_benign
4	125318733	C	T	C125318733T	FAT4	NM_024582.4(FAT4):c.2322C>T:p.Pro774=	coding	Benign/Likely_benign
4	125318831	C	T	C125318831T	FAT4	NM_024582.4(FAT4):c.2420C>T:p.Ala807Val	coding	Benign
4	125319222	G	T	G125319222T	FAT4	NM_024582.4(FAT4):c.2811G>T:p.Lys937Asn	coding	Benign/Likely_benign
4	125319330	C	T	C125319330T	FAT4	NM_024582.4(FAT4):c.2919C>T:p.Val973=	coding	Benign
4	125319355	T	C	T125319355C	FAT4	NM_024582.4(FAT4):c.2944T>C:p.Leu982=	coding	Benign
4	125319507	A	G	A125319507G	FAT4	NM_024582.4(FAT4):c.3096A>G:p.Ala1032=	coding	Benign
4	125319603	C	T	C125319603T	FAT4	NM_001291303.3(FAT4):c.3192C>T:p.Asp1064=	coding	Benign
4	125319813	A	T	A125319813T	FAT4	NM_024582.4(FAT4):c.3402A>T:p.Glu1134Asp	coding	Benign/Likely_benign
4	125320069	T	A	T125320069A	FAT4	NM_001291303.3(FAT4):c.3658T>A:p.Ser1220Thr	coding	Benign
4	125320098	G	C	G125320098C	FAT4	NM_024582.4(FAT4):c.3687G>C:p.Val1229=	coding	Benign
4	125320180	C	G	C125320180G	FAT4	NM_024582.4(FAT4):c.3769C>G:p.Gln1257Glu	coding	Benign
4	125320565	T	C	T125320565C	FAT4	NM_024582.4(FAT4):c.4154T>C:p.Leu1385Ser	coding	Benign/Likely_benign
4	125320630	G	A	G125320630A	FAT4	NM_024582.4(FAT4):c.4219G>A:p.Val1407Ile	coding	Benign/Likely_benign
4	125320714	A	G	A125320714G	FAT4	NM_024582.4(FAT4):c.4303A>G:p.Ile1435Val	coding	Benign/Likely_benign
4	125320716	C	T	C125320716T	FAT4	NM_024582.4(FAT4):c.4305C>T:p.Ile1435=	coding	Benign
4	125398702	C	T	C125398702T	FAT4	NM_024582.4(FAT4):c.5176-82C>T	noncoding	Benign
4	125407407	T	C	T125407407C	FAT4	NM_024582.4(FAT4):c.5569+266T>C	noncoding	Benign
4	125408634	T	C	T125408634C	FAT4	NM_024582.4(FAT4):c.5760T>C:p.Asp1920=	coding	Benign
4	125408757	T	C	T125408757C	FAT4	NM_001291303.3(FAT4):c.5883T>C:p.Ser1961=	coding	Benign
4	125415182	A	G	A125415182G	FAT4	NM_024582.4(FAT4):c.6219A>G:p.Gln2073=	coding	Benign
4	125415441	A	G	A125415441G	FAT4	NM_024582.4(FAT4):c.6478A>G:p.Lys2160Glu	coding	Benign/Likely_benign
4	125415548	T	C	T125415548C	FAT4	NM_024582.4(FAT4):c.6585T>C:p.Asn2195=	coding	Benign
4	125415696	G	A	G125415696A	FAT4	NM_024582.4(FAT4):c.6733G>A:p.Val2245Ile	coding	Benign/Likely_benign
4	125416172	C	G	C125416172G	FAT4	NM_024582.4(FAT4):c.6844-276C>G	noncoding	Benign
4	125434015	T	G	T125434015G	FAT4	NM_024582.4(FAT4):c.7019-230T>G	noncoding	Benign
4	125434349	G	A	G125434349A	FAT4	NM_024582.4(FAT4):c.7123G>A:p.Glu2375Lys	coding	Pathogenic
4	125434689	T	A	T125434689A	FAT4	NM_024582.4(FAT4):c.7199+264T>A	noncoding	Benign
4	125446297	A	C	A125446297C	FAT4	NM_024582.4(FAT4):c.7200-2A>C	coding	Pathogenic
4	125446419	G	A	G125446419A	FAT4	NM_001291303.3(FAT4):c.7326G>A:p.Ala2442=	coding	Benign
4	125446831	C	T	C125446831T	FAT4	NM_024582.4(FAT4):c.7444+288C>T	noncoding	Benign
4	125448399	C	T	C125448399T	FAT4	NM_024582.4(FAT4):c.7445-62C>T	noncoding	Benign
4	125448717	G	C	G125448717C	FAT4	NM_024582.4(FAT4):c.7701G>C:p.Val2567=	coding	Benign
4	125448797	T	C	T125448797C	FAT4	NM_024582.4(FAT4):c.7781T>C:p.Leu2594Ser	coding	Benign/Likely_benign
4	125448945	C	T	C125448945T	FAT4	NM_024582.4(FAT4):c.7929C>T:p.Asp2643=	coding	Benign/Likely_benign
4	125449065	C	T	C125449065T	FAT4	NM_001291303.3(FAT4):c.8055C>T:p.Ser2685=	coding	Benign
4	125449492	G	A	G125449492A	FAT4	NM_024582.4(FAT4):c.8476G>A:p.Asp2826Asn	coding	Benign
4	125449554	C	T	C125449554T	FAT4	NM_024582.4(FAT4):c.8538C>T:p.Ser2846=	coding	Benign
4	125449602	G	A	G125449602A	FAT4	NM_024582.4(FAT4):c.8586G>A:p.Val2862=	coding	Benign
4	125449852	A	G	A125449852G	FAT4	NM_024582.4(FAT4):c.8836A>G:p.Ile2946Val	coding	Benign
4	125450151	C	T	C125450151T	FAT4	NM_001291303.3(FAT4):c.9141C>T:p.Ser3047=	coding	Benign
4	125450497	G	T	G125450497T	FAT4	NM_024582.4(FAT4):c.9481G>T:p.Glu3161Ter	coding	Pathogenic
4	125450637	C	T	C125450637T	FAT4	NM_001291303.3(FAT4):c.9627C>T:p.Ala3209=	coding	Benign
4	125450659	C	T	C125450659T	FAT4	NM_024582.4(FAT4):c.9643C>T:p.His3215Tyr	coding	Benign
4	125450838	C	T	C125450838T	FAT4	NM_024582.4(FAT4):c.9822C>T:p.Pro3274=	coding	Benign/Likely_benign
4	125450886	G	A	G125450886A	FAT4	NM_024582.4(FAT4):c.9870G>A:p.Gly3290=	coding	Benign
4	125450901	G	A	G125450901A	FAT4	NM_024582.4(FAT4):c.9885G>A:p.Val3295=	coding	Benign/Likely_benign
4	125451117	A	G	A125451117G	FAT4	NM_024582.4(FAT4):c.10101A>G:p.Glu3367=	coding	Benign/Likely_benign
4	125451168	A	G	A125451168G	FAT4	NM_024582.4(FAT4):c.10152A>G:p.Ala3384=	coding	Benign
4	125451587	G	A	G125451587A	FAT4	NM_024582.4(FAT4):c.10571G>A:p.Gly3524Asp	coding	Benign
4	125451820	A	C	A125451820C	FAT4	NM_024582.4(FAT4):c.10804A>C:p.Ile3602Leu	coding	Benign/Likely_benign
4	125451863	C	T	C125451863T	FAT4	NM_024582.4(FAT4):c.10847C>T:p.Thr3616Met	coding	Benign/Likely_benign
4	125452415	C	T	C125452415T	FAT4	NM_024582.4(FAT4):c.11399C>T:p.Ser3800Phe	coding	Benign
4	125452439	A	G	A125452439G	FAT4	NM_024582.4(FAT4):c.11423A>G:p.His3808Arg	coding	Benign
4	125452471	C	T	C125452471T	FAT4	NM_024582.4(FAT4):c.11455C>T:p.Arg3819Ter	coding	Pathogenic
4	125452498	A	G	A125452498G	FAT4	NM_024582.4(FAT4):c.11482A>G:p.Lys3828Glu	coding	Benign
4	125452634	G	A	G125452634A	FAT4	NM_024582.4(FAT4):c.11618G>A:p.Ser3873Asn	coding	Benign
4	125452680	C	T	C125452680T	FAT4	NM_024582.4(FAT4):c.11664C>T:p.Cys3888=	coding	Benign/Likely_benign
4	125452811	G	T	G125452811T	FAT4	NM_001291303.1(FAT4):c.11800+1G>T	coding	Pathogenic
4	125463440	C	T	C125463440T	FAT4	NM_024582.4(FAT4):c.11795-123C>T	noncoding	Benign
4	125463582	A	G	A125463582G	FAT4	NM_024582.4(FAT4):c.11814A>G:p.Ser3938=	coding	Benign
4	125463750	A	C	A125463750C	FAT4	NM_024582.4(FAT4):c.11899+83A>C	noncoding	Benign
4	125468677	G	A	G125468677A	FAT4	NM_024582.4(FAT4):c.12065G>A:p.Arg4022Gln	coding	Benign
4	125469026	C	T	C125469026T	FAT4	NM_024582.4(FAT4):c.12207+207C>T	noncoding	Benign
4	125475901	C	T	C125475901T	FAT4	NM_024582.4(FAT4):c.12208-270C>T	noncoding	Benign
4	125476099	G	A	G125476099A	FAT4	NM_024582.4(FAT4):c.12208-72G>A	noncoding	Benign
4	125476166	C	T	C125476166T	FAT4	NM_024582.4(FAT4):c.12208-5C>T	noncoding	Benign
4	125477342	G	A	G125477342A	FAT4	NM_001291303.3(FAT4):c.12479+8G>A	noncoding	Benign
4	125479743	G	T	G125479743T	FAT4	NM_024582.4(FAT4):c.12476G>T:p.Cys4159Phe	coding	Pathogenic
4	125479767	C	T	C125479767T	FAT4	NM_024582.4(FAT4):c.12500C>T:p.Thr4167Ile	coding	Benign
4	125480171	T	C	T125480171C	FAT4	NM_024582.4(FAT4):c.12598+306T>C	noncoding	Benign
4	125481463	C	T	C125481463T	FAT4	NM_024582.4(FAT4):c.12599-58C>T	noncoding	Benign
4	125481735	G	A	G125481735A	FAT4	NM_024582.4(FAT4):c.12813G>A:p.Val4271=	coding	Benign
4	125481766	T	G	T125481766G	FAT4	NM_024582.4(FAT4):c.12816+28T>G	noncoding	Benign
4	125487374	C	T	C125487374T	FAT4	NM_024582.4(FAT4):c.12846C>T:p.Ser4282=	coding	Benign
4	125487377	T	C	T125487377C	FAT4	NM_024582.4(FAT4):c.12849T>C:p.Asp4283=	coding	Benign/Likely_benign
4	125487431	C	T	C125487431T	FAT4	NM_024582.4(FAT4):c.12903C>T:p.Asp4301=	coding	Benign
4	125487508	A	G	A125487508G	FAT4	NM_024582.4(FAT4):c.12980A>G:p.Asp4327Gly	coding	Benign/Likely_benign
4	125487551	T	C	T125487551C	FAT4	NM_001291303.3(FAT4):c.13029T>C:p.Leu4343=	coding	Benign
4	125487825	A	T	A125487825T	FAT4	NM_024582.4(FAT4):c.13078+219A>T	noncoding	Benign
4	125487833	G	C	G125487833C	FAT4	NM_024582.4(FAT4):c.13078+227G>C	noncoding	Benign
4	125489927	A	G	A125489927G	FAT4	NM_001291303.3(FAT4):c.13111A>G:p.Met4371Val	coding	Benign
4	125490015	G	A	G125490015A	FAT4	NM_024582.4(FAT4):c.13193G>A:p.Cys4398Tyr	coding	Pathogenic
4	125490220	G	A	G125490220A	FAT4	NM_024582.4(FAT4):c.13398G>A:p.Val4466=	coding	Benign/Likely_benign
4	125490370	G	A	G125490370A	FAT4	NM_024582.4(FAT4):c.13548G>A:p.Leu4516=	coding	Benign/Likely_benign
4	125490421	G	A	G125490421A	FAT4	NM_024582.4(FAT4):c.13599G>A:p.Lys4533=	coding	Benign
4	125490439	G	A	G125490439A	FAT4	NM_024582.4(FAT4):c.13617G>A:p.Glu4539=	coding	Benign
4	125490951	C	G	C125490951G	FAT4	NM_024582.4(FAT4):c.14129C>G:p.Ser4710Cys	coding	Benign
4	125490999	G	A	G125490999A	FAT4	NM_024582.4(FAT4):c.14177G>A:p.Arg4726Lys	coding	Benign
4	125491177	C	T	C125491177T	FAT4	NM_024582.4(FAT4):c.14355C>T:p.Val4785=	coding	Benign
4	125491420	A	G	A125491420G	FAT4	NM_024582.4(FAT4):c.14598A>G:p.Arg4866=	coding	Benign
4	125491479	C	G	C125491479G	FAT4	NM_024582.4(FAT4):c.14657C>G:p.Ala4886Gly	coding	Benign/Likely_benign
4	125491504	C	T	C125491504T	FAT4	NM_024582.4(FAT4):c.14682C>T:p.His4894=	coding	Benign/Likely_benign
4	125491736	C	T	C125491736T	FAT4	NM_024582.4(FAT4):c.14914C>T:p.Pro4972Ser	coding	Benign
4	125491756	A	G	A125491756G	FAT4	NM_001291303.3(FAT4):c.14940A>G:p.Glu4980=	coding	Benign
4	127700001	T	G	T127700001G	INTU	NM_015693.4(INTU):c.1450-9T>G	noncoding	Benign
4	127795779	C	T	C127795779T	HSPA4L	NM_014278.4(HSPA4L):c.177C>T:p.Asn59=	coding	Benign
4	127827310	C	T	C127827310T	HSPA4L	NM_014278.4(HSPA4L):c.2052C>T:p.Tyr684=	coding	Benign
4	127886390	A	C	A127886390C	PLK4	NM_014264.5(PLK4):c.1020A>C:p.Gly340=	coding	Benign
4	127887401	A	G	A127887401G	PLK4	NM_014264.5(PLK4):c.1364A>G:p.Asn455Ser	coding	Benign
4	127887465	A	T	A127887465T	PLK4	NM_014264.5(PLK4):c.1428A>T:p.Val476=	coding	Benign
4	127890243	C	G	C127890243G	PLK4	NM_014264.5(PLK4):c.1830+7C>G	noncoding	Benign
4	127892435	C	A	C127892435A	PLK4	NM_014264.5(PLK4):c.2109C>A:p.Ile703=	coding	Benign
4	127893752	T	C	T127893752C	PLK4	NM_014264.5(PLK4):c.2433T>C:p.Ser811=	coding	Benign
4	127893802	C	T	C127893802T	PLK4	NM_014264.5(PLK4):c.2483C>T:p.Thr828Met	coding	Benign
4	127898434	C	G	C127898434G	PLK4	NM_014264.5(PLK4):c.2811-5C>G	noncoding	Pathogenic
4	127898523	G	A	G127898523A	PLK4	NM_014264.5(PLK4):c.2895G>A:p.Pro965=	coding	Benign
4	127918165	T	C	T127918165C	MFSD8	NM_152778.3(MFSD8):c.*2465A>G	noncoding	Benign
4	127918166	G	A	G127918166A	MFSD8	NM_001371596.2(MFSD8):c.*2464C>T	noncoding	Benign
4	127918225	C	T	C127918225T	MFSD8	NM_152778.3(MFSD8):c.*2405G>A	noncoding	Benign
4	127918836	C	A	C127918836A	MFSD8	NM_152778.3(MFSD8):c.*1794G>T	noncoding	Benign
4	127919115	A	T	A127919115T	MFSD8	NM_152778.3(MFSD8):c.*1515T>A	noncoding	Benign
4	127920097	C	T	C127920097T	MFSD8	NM_152778.3(MFSD8):c.*533G>A	noncoding	Benign
4	127920203	C	G	C127920203G	MFSD8	NM_001371596.2(MFSD8):c.*427G>C	noncoding	Benign
4	127920743	G	A	G127920743A	MFSD8	NM_152778.3(MFSD8):c.1444C>T:p.Arg482Ter	coding	Pathogenic/Likely_pathogenic
4	127920845	G	A	G127920845A	MFSD8	NM_152778.3(MFSD8):c.1351-9C>T	noncoding	Benign
4	127921563	G	C	G127921563C	MFSD8	NM_152778.3(MFSD8):c.1311C>G:p.Ser437=	coding	Benign/Likely_benign
4	127921588	C	T	C127921588T	MFSD8	NM_152778.3(MFSD8):c.1286G>A:p.Gly429Asp	coding	Pathogenic
4	127921606	G	A	G127921606A	MFSD8	NM_152778.3(MFSD8):c.1268C>T:p.Ala423Val	coding	Benign
4	127921639	G	A	G127921639A	MFSD8	NM_152778.3(MFSD8):c.1235C>T:p.Pro412Leu	coding	Pathogenic/Likely_pathogenic
4	127921721	C	G	C127921721G	MFSD8	NM_152778.3(MFSD8):c.1153G>C:p.Gly385Arg	coding	Benign
4	127921733	C	A	C127921733A	MFSD8	NM_152778.3(MFSD8):c.1141G>T:p.Glu381Ter	coding	Pathogenic
4	127921860	C	G	C127921860G	MFSD8	NM_152778.3(MFSD8):c.1102G>C:p.Asp368His	coding	Pathogenic
4	127921921	T	C	T127921921C	MFSD8	NM_152778.3(MFSD8):c.1041A>G:p.Val347=	coding	Benign/Likely_benign
4	127930682	C	T	C127930682T	MFSD8	NM_152778.3(MFSD8):c.998+1G>A	noncoding	Pathogenic
4	127930787	A	C	A127930787C	MFSD8	NM_152778.3(MFSD8):c.894T>G:p.Tyr298Ter	coding	Pathogenic
4	127930800	G	T	G127930800T	MFSD8	NM_152778.3(MFSD8):c.881C>A:p.Thr294Lys	coding	Pathogenic/Likely_pathogenic
4	127932984	C	A	C127932984A	MFSD8	NM_001371596.2(MFSD8):c.863+1G>T	noncoding	Pathogenic
4	127932984	C	T	C127932984T	MFSD8	NM_001371596.2(MFSD8):c.863+1G>A	noncoding	Pathogenic
4	127938781	A	T	A127938781T	MFSD8	NM_152778.3(MFSD8):c.754+2T>A	noncoding	Pathogenic
4	127938782	C	G	C127938782G	MFSD8	NM_001371596.2(MFSD8):c.754+1G>C	noncoding	Pathogenic
4	127938782	C	T	C127938782T	MFSD8	NM_001371596.2(MFSD8):c.754+1G>A	noncoding	Pathogenic
4	127939952	C	T	C127939952T	MFSD8	NM_152778.3(MFSD8):c.599G>A:p.Trp200Ter	coding	Pathogenic
4	127939961	C	T	C127939961T	MFSD8	NM_152778.3(MFSD8):c.590G>A:p.Gly197Asp	coding	Benign/Likely_benign
4	127939978	T	C	T127939978C	MFSD8	NM_152778.3(MFSD8):c.573A>G:p.Thr191=	coding	Benign
4	127941894	G	C	G127941894C	MFSD8	NM_152778.3(MFSD8):c.553+151C>G	noncoding	Benign
4	127942025	G	A	G127942025A	MFSD8	NM_152778.3(MFSD8):c.553+20C>T	noncoding	Benign
4	127943775	C	T	C127943775T	MFSD8	NM_152778.3(MFSD8):c.416G>A:p.Arg139His	coding	Pathogenic
4	127943958	C	T	C127943958T	MFSD8	NM_152778.3(MFSD8):c.233G>A:p.Trp78Ter	coding	Pathogenic
4	127944000	A	G	A127944000G	MFSD8	NM_152778.3(MFSD8):c.199-8T>C	noncoding	Benign
4	127949862	A	G	A127949862G	MFSD8	NM_152778.3(MFSD8):c.155-15T>C	noncoding	Benign
4	127950147	A	G	A127950147G	MFSD8	NM_152778.3(MFSD8):c.155-300T>C	noncoding	Benign
4	127950154	A	G	A127950154G	MFSD8	NM_152778.3(MFSD8):c.155-307T>C	noncoding	Benign
4	127957502	T	C	T127957502C	MFSD8	NM_152778.3(MFSD8):c.153A>G:p.Val51=	coding	Benign
4	127957552	G	A	G127957552A	MFSD8	NM_001371596.2(MFSD8):c.103C>T:p.Arg35Ter	coding	Pathogenic
4	127957589	T	A	T127957589A	MFSD8	NM_152778.3(MFSD8):c.66A>T:p.Glu22Asp	coding	Benign
4	127957591	C	A	C127957591A	MFSD8	NM_152778.3(MFSD8):c.64G>T:p.Glu22Ter	coding	Pathogenic
4	127957593	C	T	C127957593T	MFSD8	NM_001371596.2(MFSD8):c.63-1G>A	coding	Pathogenic
4	127965541	G	C	G127965541C	MFSD8	NM_152778.3(MFSD8):c.-75-333C>G	noncoding	Benign
4	127965921	C	G	C127965921G	MFSD8	NM_152778.3(MFSD8):c.-100G>C	noncoding	Benign
4	128857355	A	G	A128857355G	JADE1	NM_199320.4(JADE1):c.882A>G:p.Pro294=	coding	Benign
4	128861698	T	C	T128861698C	JADE1	NM_199320.4(JADE1):c.982-6T>C	noncoding	Benign
4	128871632	A	G	A128871632G	JADE1	NM_199320.4(JADE1):c.1899A>G:p.Leu633=	coding	Benign
4	128871718	A	G	A128871718G	JADE1	NM_199320.4(JADE1):c.1985A>G:p.Asn662Ser	coding	Benign
4	128891142	T	C	T128891142C	SCLT1	NM_144643.4(SCLT1):c.1830-5A>G	noncoding	Benign
4	128936738	C	T	C128936738T	SCLT1	NM_144643.4(SCLT1):c.1746G>A:p.Ala582=	coding	Benign
4	128943120	C	T	C128943120T	SCLT1	NM_144643.4(SCLT1):c.1508G>A:p.Arg503Lys	coding	Benign
4	128943134	T	C	T128943134C	SCLT1	NM_144643.4(SCLT1):c.1494A>G:p.Val498=	coding	Benign
4	128946073	C	T	C128946073T	SCLT1	NM_144643.4(SCLT1):c.1373G>A:p.Arg458His	coding	Benign
4	128959615	G	A	G128959615A	SCLT1	NM_144643.4(SCLT1):c.1032C>T:p.Asn344=	coding	Benign
4	128970387	C	A	C128970387A	SCLT1	NM_144643.4(SCLT1):c.768G>T:p.Met256Ile	coding	Benign
4	128970428	C	T	C128970428T	SCLT1	NM_144643.4(SCLT1):c.727G>A:p.Glu243Lys	coding	Benign
4	129003810	T	C	T129003810C	SCLT1	NM_144643.4(SCLT1):c.357A>G:p.Val119=	coding	Benign
4	129003855	A	T	A129003855T	SCLT1	NM_144643.4(SCLT1):c.312T>A:p.Asp104Glu	coding	Benign
4	129044046	A	G	A129044046G	SCLT1	NM_144643.4(SCLT1):c.108T>C:p.Ala36=	coding	Benign
4	133150710	C	T	C133150710T	PCDH10	NM_032961.3(PCDH10):c.570C>T:p.Asp190=	coding	Benign
4	133151430	C	A	C133151430A	PCDH10	NM_032961.3(PCDH10):c.1290C>A:p.Thr430=	coding	Benign
4	139043288	T	C	T139043288C	NOCT	NM_012118.4(NOCT):c.405T>C:p.Asp135=	coding	Benign
4	139334222	C	T	C139334222T	NAA15	NM_057175.5(NAA15):c.103C>T:p.Gln35Ter	coding	Pathogenic
4	139341049	C	T	C139341049T	NAA15	NM_057175.5(NAA15):c.382C>T:p.Arg128Ter	coding	Pathogenic
4	139342853	C	T	C139342853T	NAA15	NM_057175.5(NAA15):c.430C>T:p.Arg144Ter	coding	Pathogenic
4	139349481	A	G	A139349481G	NAA15	NM_057175.5(NAA15):c.711A>G:p.Leu237=	coding	Benign
4	139351510	A	T	A139351510T	NAA15	NM_057175.5(NAA15):c.913A>T:p.Lys305Ter	coding	Pathogenic
4	139354100	T	G	T139354100G	NAA15	NM_057175.5(NAA15):c.1087+2T>G	noncoding	Pathogenic
4	139360566	C	T	C139360566T	NAA15	NM_057175.5(NAA15):c.1477C>T:p.Gln493Ter	coding	Pathogenic
4	139361879	T	A	T139361879A	NAA15	NM_057175.5(NAA15):c.1695T>A:p.Tyr565Ter	coding	Pathogenic
4	139370209	A	G	A139370209G	NAA15	NM_057175.5(NAA15):c.1754-2A>G	noncoding	Pathogenic
4	139370401	C	T	C139370401T	NAA15	NM_057175.5(NAA15):c.1944C>T:p.Ala648=	coding	Benign
4	139376455	G	T	G139376455T	NAA15	NM_057175.5(NAA15):c.2038G>T:p.Glu680Ter	coding	Pathogenic
4	139378785	A	T	A139378785T	NAA15	NM_057175.5(NAA15):c.2086A>T:p.Lys696Ter	coding	Pathogenic
4	139378814	T	C	T139378814C	NAA15	NM_057175.5(NAA15):c.2115T>C:p.His705=	coding	Benign
4	139386152	C	G	C139386152G	NAA15	NM_057175.5(NAA15):c.2322C>G:p.Tyr774Ter	coding	Pathogenic
4	139453991	G	C	G139453991C	RAB33B	NM_031296.2(RAB33B):c.-205G>C	noncoding	Benign
4	139454160	C	T	C139454160T	RAB33B	NM_031296.3(RAB33B):c.-36C>T	noncoding	Benign
4	139454331	A	C	A139454331C	RAB33B	NM_031296.3(RAB33B):c.136A>C:p.Lys46Gln	coding	Pathogenic
4	139454406	C	T	C139454406T	RAB33B	NM_031296.3(RAB33B):c.211C>T:p.Arg71Ter	coding	Pathogenic
4	139472694	A	G	A139472694G	RAB33B	NM_031296.3(RAB33B):c.258A>G:p.Leu86=	coding	Benign
4	139472801	T	C	T139472801C	RAB33B	NM_031296.3(RAB33B):c.365T>C:p.Phe122Ser	coding	Pathogenic
4	139472880	T	A	T139472880A	RAB33B	NM_031296.3(RAB33B):c.444T>A:p.Asn148Lys	coding	Pathogenic
4	139472926	C	T	C139472926T	RAB33B	NM_031296.3(RAB33B):c.490C>T:p.Gln164Ter	coding	Pathogenic
4	139474203	G	A	G139474203A	RAB33B	NM_031296.3(RAB33B):c.*1077G>A	noncoding	Benign
4	139474429	C	T	C139474429T	RAB33B	NM_031296.3(RAB33B):c.*1303C>T	noncoding	Benign
4	139475777	C	A	C139475777A	RAB33B	NM_031296.3(RAB33B):c.*2651C>A	noncoding	Benign
4	139547024	C	T	C139547024T	SETD7	NM_030648.3(SETD7):c.66G>A:p.Pro22=	coding	Benign
4	139695263	C	T	C139695263T	MGST2	NM_002413.5(MGST2):c.225C>T:p.Asn75=	coding	Benign
4	139703502	T	C	T139703502C	MGST2	NM_002413.5(MGST2):c.277T>C:p.Tyr93His	coding	Benign
4	140373726	C	A	C140373726A	SCOC	NM_001153484.1(SCOC):c.181+9C>A	noncoding	Benign
4	140400496	A	G	A140400496G	CLGN	NM_004362.3(CLGN):c.555T>C:p.Cys185=	coding	Benign
4	140537545	A	C	A140537545C	ELMOD2	NM_153702.4(ELMOD2):c.399+4A>C	noncoding	Benign
4	140540196	A	C	A140540196C	ELMOD2	NM_153702.4(ELMOD2):c.428A>C:p.Lys143Thr	coding	Benign
4	140550384	C	T	C140550384T	ELMOD2	NM_153702.4(ELMOD2):c.*9C>T	noncoding	Benign
4	140562322	G	A	G140562322A	UCP1	NM_021833.5(UCP1):c.680C>T:p.Thr227Ile	coding	Benign
4	140567837	G	A	G140567837A	UCP1	NM_021833.5(UCP1):c.267C>T:p.Ala89=	coding	Benign
4	140568612	G	A	G140568612A	UCP1	NM_021833.5(UCP1):c.118C>T:p.Arg40Trp	coding	Benign
4	140624222	A	G	A140624222G	TBC1D9	NM_015130.3(TBC1D9):c.2975-3T>C	noncoding	Benign
4	140657751	G	A	G140657751A	TBC1D9	NM_015130.3(TBC1D9):c.1983C>T:p.Tyr661=	coding	Benign
4	141729955	C	T	C141729955T	IL15	NM_000585.5(IL15):c.349C>T:p.Leu117=	coding	Benign
4	143415751	G	A	G143415751A	GAB1	NM_002039.4(GAB1):c.347G>A:p.Gly116Glu	coding	Pathogenic
4	143514002	C	T	C143514002T	SMARCA5	NM_003601.4(SMARCA5):c.78C>T:p.Ser26=	coding	Benign
4	143521452	C	T	C143521452T	SMARCA5	NM_003601.4(SMARCA5):c.276C>T:p.Phe92=	coding	Benign
4	143585880	C	T	C143585880T	FREM3	NM_001168235.2(FREM3):c.6142G>A:p.Val2048Met	coding	Benign
4	143880509	C	G	C143880509G	GYPE	NM_198682.3(GYPE):c.38G>C:p.Gly13Ala	coding	Benign
4	143880518	A	C	A143880518C	GYPE	NM_198682.3(GYPE):c.38-9T>G	noncoding	Benign
4	144119686	C	T	C144119686T	GYPA	NM_002099.8(GYPA):c.232G>A:p.Gly78Arg	coding	Pathogenic
4	144659714	G	A	G144659714A	HHIP	NM_022475.3(HHIP):c.707G>A:p.Gly236Glu	coding	Benign
4	144714358	C	G	C144714358G	HHIP	NM_022475.3(HHIP):c.1547+10C>G	noncoding	Benign
4	145109174	A	T	A145109174T	ABCE1	NM_002940.3(ABCE1):c.330A>T:p.Gly110=	coding	Benign
4	145110451	G	T	G145110451T	ABCE1	NM_002940.3(ABCE1):c.613+7G>T	noncoding	Benign
4	145112254	G	A	G145112254A	ABCE1	NM_002940.3(ABCE1):c.726G>A:p.Glu242=	coding	Benign
4	145123265	C	T	C145123265T	ABCE1	NM_002940.3(ABCE1):c.1425C>T:p.Cys475=	coding	Benign
4	145639084	A	G	A145639084G	MMAA	NM_172250.3(MMAA):c.-56A>G	noncoding	Benign
4	145639105	A	T	A145639105T	MMAA	NM_172250.3(MMAA):c.-35A>T	noncoding	Benign
4	145639203	C	T	C145639203T	MMAA	NM_172250.3(MMAA):c.64C>T:p.Arg22Ter	coding	Pathogenic
4	145639211	C	A	C145639211A	MMAA	NM_172250.3(MMAA):c.72C>A:p.Tyr24Ter	coding	Pathogenic
4	145639277	T	C	T145639277C	MMAA	NM_172250.3(MMAA):c.138T>C:p.Ser46=	coding	Benign
4	145639341	C	T	C145639341T	MMAA	NM_172250.3(MMAA):c.202C>T:p.Gln68Ter	coding	Pathogenic
4	145639422	C	T	C145639422T	MMAA	NM_172250.3(MMAA):c.283C>T:p.Gln95Ter	coding	Pathogenic
4	145639497	C	T	C145639497T	MMAA	NM_172250.3(MMAA):c.358C>T:p.Gln120Ter	coding	Pathogenic
4	145639526	C	A	C145639526A	MMAA	NM_172250.3(MMAA):c.387C>A:p.Tyr129Ter	coding	Pathogenic
4	145639536	C	T	C145639536T	MMAA	NM_172250.3(MMAA):c.397C>T:p.Gln133Ter	coding	Pathogenic
4	145639572	C	T	C145639572T	MMAA	NM_172250.3(MMAA):c.433C>T:p.Arg145Ter	coding	Pathogenic
4	145642485	G	C	G145642485C	MMAA	NM_172250.3(MMAA):c.562G>C:p.Gly188Arg	coding	Pathogenic
4	145642486	G	A	G145642486A	MMAA	NM_172250.3(MMAA):c.562+1G>A	coding	Pathogenic
4	145645998	G	A	G145645998A	MMAA	NM_172250.3(MMAA):c.575G>A:p.Gly192Asp	coding	Pathogenic
4	145646009	C	T	C145646009T	MMAA	NM_172250.3(MMAA):c.586C>T:p.Arg196Ter	coding	Pathogenic
4	145646020	G	A	G145646020A	MMAA	NM_172250.3(MMAA):c.597G>A:p.Glu199=	coding	Benign/Likely_benign
4	145646043	A	G	A145646043G	MMAA	NM_172250.3(MMAA):c.620A>G:p.Tyr207Cys	coding	Pathogenic
4	145646076	G	A	G145646076A	MMAA	NM_172250.3(MMAA):c.653G>A:p.Gly218Glu	coding	Pathogenic
4	145646081	G	A	G145646081A	MMAA	NM_172250.3(MMAA):c.658G>A:p.Val220Met	coding	Pathogenic
4	145646120	G	T	G145646120T	MMAA	NM_172250.3(MMAA):c.697G>T:p.Gly233Ter	coding	Pathogenic
4	145646144	A	T	A145646144T	MMAA	NM_172250.3(MMAA):c.721A>T:p.Ile241Phe	coding	Pathogenic
4	145646151	C	A	C145646151A	MMAA	NM_172250.3(MMAA):c.728C>A:p.Thr243Asn	coding	Pathogenic
4	145646157	G	A	G145646157A	MMAA	NM_172250.3(MMAA):c.733+1G>A	coding	Pathogenic/Likely_pathogenic
4	145646432	T	G	T145646432G	MMAA	NM_172250.3(MMAA):c.733+276T>G	noncoding	Benign
4	145651070	C	T	C145651070T	MMAA	NM_172250.3(MMAA):c.742C>T:p.Gln248Ter	coding	Pathogenic
4	145651075	G	A	G145651075A	MMAA	NM_172250.3(MMAA):c.747G>A:p.Ser249=	coding	Benign
4	145653825	T	C	T145653825C	MMAA	NM_172250.3(MMAA):c.820-169T>C	noncoding	Benign
4	145653993	G	A	G145653993A	MMAA	NM_172250.3(MMAA):c.820-1G>A	noncoding	Pathogenic
4	145654034	C	A	C145654034A	MMAA	NM_172250.3(MMAA):c.860C>A:p.Ala287Asp	coding	Pathogenic
4	145654049	A	T	A145654049T	MMAA	NM_172250.3(MMAA):c.875A>T:p.Asp292Val	coding	Pathogenic
4	145655145	A	T	A145655145T	MMAA	NM_172250.3(MMAA):c.970-2A>T	noncoding	Pathogenic
4	145655165	C	T	C145655165T	MMAA	NM_172250.3(MMAA):c.988C>T:p.Arg330Ter	coding	Pathogenic
4	145655202	T	G	T145655202G	MMAA	NM_172250.3(MMAA):c.1025T>G:p.Met342Arg	coding	Pathogenic
4	145655252	C	T	C145655252T	MMAA	NM_172250.3(MMAA):c.1075C>T:p.Arg359Ter	coding	Pathogenic
4	145655253	G	A	G145655253A	MMAA	NM_172250.3(MMAA):c.1076G>A:p.Arg359Gln	coding	Pathogenic
4	145655266	G	C	G145655266C	MMAA	NM_172250.3(MMAA):c.1089G>C:p.Gln363His	coding	Benign
4	145655406	T	A	T145655406A	MMAA	NM_172250.3(MMAA):c.1229T>A:p.Leu410Ter	coding	Pathogenic
4	145655413	A	G	A145655413G	MMAA	NM_172250.3(MMAA):c.1236A>G:p.Lys412=	coding	Benign/Likely_benign
4	145655740	T	A	T145655740A	MMAA	NM_172250.3(MMAA):c.*306T>A	noncoding	Benign
4	145655868	C	T	C145655868T	MMAA	NM_172250.3(MMAA):c.*434C>T	noncoding	Benign
4	145657216	A	G	A145657216G	MMAA	NM_172250.3(MMAA):c.*1782A>G	noncoding	Benign
4	145657576	T	C	T145657576C	MMAA	NM_172250.3(MMAA):c.*2142T>C	noncoding	Benign
4	145657806	T	A	T145657806A	MMAA	NM_172250.3(MMAA):c.*2372T>A	noncoding	Benign
4	145658300	A	G	A145658300G	MMAA	NM_172250.3(MMAA):c.*2866A>G	noncoding	Benign
4	145659055	G	A	G145659055A	MMAA	NM_172250.3(MMAA):c.*3621G>A	noncoding	Benign
4	145659258	C	A	C145659258A	MMAA	NM_172250.3(MMAA):c.*3824C>A	noncoding	Benign
4	145774648	G	A	G145774648A	ZNF827	NM_001306215.2(ZNF827):c.2718C>T:p.Thr906=	coding	Benign
4	145823489	T	A	T145823489A	ZNF827	NM_001306215.2(ZNF827):c.2316A>T:p.Pro772=	coding	Benign
4	146258757	C	T	C146258757T	SLC10A7	NM_001029998.6(SLC10A7):c.928G>A:p.Ala310Thr	coding	Benign
4	146292996	T	C	T146292996C	SLC10A7	NM_001029998.6(SLC10A7):c.722-16A>G	noncoding	Pathogenic
4	146305928	G	A	G146305928A	SLC10A7	NM_001029998.6(SLC10A7):c.553C>T:p.Gln185Ter	coding	Pathogenic
4	146503857	C	T	C146503857T	SLC10A7	NM_001029998.6(SLC10A7):c.388G>A:p.Gly130Arg	coding	Pathogenic
4	146503910	C	T	C146503910T	SLC10A7	NM_001029998.6(SLC10A7):c.335G>A:p.Gly112Asp	coding	Pathogenic
4	146510012	A	G	A146510012G	SLC10A7	NM_001029998.6(SLC10A7):c.221T>C:p.Leu74Pro	coding	Pathogenic
4	146639995	C	A	C146639995A	POU4F2	NM_004575.3(POU4F2):c.417C>A:p.Asp139Glu	coding	Benign
4	146640520	G	T	G146640520T	POU4F2	NM_004575.3(POU4F2):c.942G>T:p.Ala314=	coding	Benign
4	146706824	C	T	C146706824T	TTC29	NM_031956.3(TTC29):c.*334G>A	noncoding	Pathogenic
4	146803680	G	C	G146803680C	TTC29	NM_031956.3(TTC29):c.1107C>G:p.Tyr369Ter	coding	Pathogenic
4	146833805	C	A	C146833805A	TTC29	NM_031956.3(TTC29):c.977+1G>T	noncoding	Pathogenic
4	146874765	G	T	G146874765T	TTC29	NM_031956.3(TTC29):c.750C>A:p.Tyr250Ter	coding	Pathogenic
4	147485984	G	C	G147485984C	EDNRA	NM_001957.4(EDNRA):c.303G>C:p.Leu101=	coding	Benign
4	147486067	A	T	A147486067T	EDNRA	NM_001957.4(EDNRA):c.386A>T:p.Tyr129Phe	coding	Pathogenic
4	147539823	G	A	G147539823A	EDNRA	NM_001957.4(EDNRA):c.907G>A:p.Glu303Lys	coding	Pathogenic
4	147540452	T	C	T147540452C	EDNRA	NM_001957.4(EDNRA):c.1110T>C:p.Tyr370=	coding	Benign
4	147542480	A	G	A147542480G	EDNRA	NM_001957.4(EDNRA):c.1146A>G:p.Ser382=	coding	Benign
4	147875047	G	A	G147875047A	ARHGAP10	NM_024605.4(ARHGAP10):c.729G>A:p.Arg243=	coding	Benign
4	147913126	C	T	C147913126T	ARHGAP10	NM_024605.4(ARHGAP10):c.1215C>T:p.Ala405=	coding	Benign
4	147965034	C	T	C147965034T	ARHGAP10	NM_024605.4(ARHGAP10):c.1461C>T:p.Ser487=	coding	Benign
4	148023388	C	T	C148023388T	ARHGAP10	NM_024605.4(ARHGAP10):c.1842C>T:p.Tyr614=	coding	Benign
4	148078873	C	T	C148078873T	NR3C2	NM_000901.5(NR3C2):c.*2471G>A	noncoding	Benign
4	148078934	A	G	A148078934G	NR3C2	NM_000901.5(NR3C2):c.*2410T>C	noncoding	Benign
4	148078956	A	G	A148078956G	NR3C2	NM_000901.5(NR3C2):c.*2388T>C	noncoding	Benign
4	148079256	C	T	C148079256T	NR3C2	NM_000901.5(NR3C2):c.*2088G>A	noncoding	Benign
4	148079279	T	G	T148079279G	NR3C2	NM_000901.5(NR3C2):c.*2065A>C	noncoding	Benign
4	148079542	C	T	C148079542T	NR3C2	NM_000901.5(NR3C2):c.*1802G>A	noncoding	Benign
4	148079836	T	C	T148079836C	NR3C2	NM_000901.5(NR3C2):c.*1508A>G	noncoding	Benign
4	148079934	T	C	T148079934C	NR3C2	NM_000901.5(NR3C2):c.*1410A>G	noncoding	Benign
4	148080135	C	T	C148080135T	NR3C2	NM_000901.5(NR3C2):c.*1209G>A	noncoding	Benign
4	148080179	G	A	G148080179A	NR3C2	NM_000901.5(NR3C2):c.*1165C>T	noncoding	Benign
4	148080223	A	G	A148080223G	NR3C2	NM_000901.5(NR3C2):c.*1121T>C	noncoding	Benign
4	148080312	C	T	C148080312T	NR3C2	NM_000901.5(NR3C2):c.*1032G>A	noncoding	Benign
4	148080454	A	C	A148080454C	NR3C2	NM_000901.5(NR3C2):c.*890T>G	noncoding	Benign
4	148080589	T	G	T148080589G	NR3C2	NM_000901.5(NR3C2):c.*755A>C	noncoding	Benign
4	148080932	G	A	G148080932A	NR3C2	NM_000901.5(NR3C2):c.*412C>T	noncoding	Benign
4	148081258	A	G	A148081258G	NR3C2	NM_000901.5(NR3C2):c.*86T>C	noncoding	Benign
4	148081363	A	G	A148081363G	NR3C2	NM_000901.5(NR3C2):c.2936T>C:p.Leu979Pro	coding	Pathogenic
4	148081384	T	C	T148081384C	NR3C2	NM_000901.5(NR3C2):c.2915A>G:p.Glu972Gly	coding	Pathogenic
4	148081460	G	A	G148081460A	NR3C2	NM_000901.5(NR3C2):c.2839C>T:p.Arg947Ter	coding	Pathogenic
4	148081516	G	C	G148081516C	NR3C2	NM_000901.5(NR3C2):c.2800-17C>G	noncoding	Benign
4	148114132	A	G	A148114132G	NR3C2	NM_000901.5(NR3C2):c.2771T>C:p.Leu924Pro	coding	Pathogenic
4	148120152	A	G	A148120152G	NR3C2	NM_000901.5(NR3C2):c.2641+6T>C	noncoding	Benign
4	148120221	C	T	C148120221T	NR3C2	NM_000901.5(NR3C2):c.2578G>A:p.Val860Ile	coding	Benign
4	148152526	G	A	G148152526A	NR3C2	NM_000901.5(NR3C2):c.2453C>T:p.Ser818Leu	coding	Pathogenic
4	148152550	G	A	G148152550A	NR3C2	NM_000901.5(NR3C2):c.2429C>T:p.Ser810Leu	coding	Pathogenic
4	148152567	A	G	A148152567G	NR3C2	NM_000901.5(NR3C2):c.2412T>C:p.Tyr804=	coding	Benign
4	148154589	T	C	T148154589C	NR3C2	NM_000901.5(NR3C2):c.2327A>G:p.Gln776Arg	coding	Pathogenic
4	148154604	C	T	C148154604T	NR3C2	NM_000901.5(NR3C2):c.2312G>A:p.Arg771His	coding	Benign/Likely_benign
4	148154738	C	T	C148154738T	NR3C2	NM_000901.5(NR3C2):c.2178G>A:p.Gln726=	coding	Benign
4	148154777	A	G	A148154777G	NR3C2	NM_000901.5(NR3C2):c.2139T>C:p.Pro713=	coding	Benign
4	148154819	T	G	T148154819G	NR3C2	NM_000901.5(NR3C2):c.2097A>C:p.Pro699=	coding	Benign
4	148154825	T	G	T148154825G	NR3C2	NM_000901.5(NR3C2):c.2091A>C:p.Pro697=	coding	Benign
4	148154892	G	C	G148154892C	NR3C2	NM_000901.5(NR3C2):c.2024C>G:p.Ser675Ter	coding	Pathogenic
4	148194825	G	T	G148194825T	NR3C2	NM_000901.5(NR3C2):c.1935C>A:p.Cys645Ter	coding	Pathogenic
4	148194866	A	G	A148194866G	NR3C2	NM_000901.5(NR3C2):c.1898-4T>C	noncoding	Benign
4	148259978	C	T	C148259978T	NR3C2	NM_000901.5(NR3C2):c.1897G>A:p.Gly633Arg	coding	Pathogenic
4	148260084	T	C	T148260084C	NR3C2	NM_000901.5(NR3C2):c.1791A>G:p.Ser597=	coding	Benign
4	148260107	G	A	G148260107A	NR3C2	NM_000901.5(NR3C2):c.1768C>T:p.Arg590Ter	coding	Pathogenic
4	148435148	A	G	A148435148G	NR3C2	NM_000901.5(NR3C2):c.1713T>C:p.Ser571=	coding	Benign
4	148435156	T	C	T148435156C	NR3C2	NM_000901.5(NR3C2):c.1705A>G:p.Arg569Gly	coding	Benign/Likely_benign
4	148435172	G	A	G148435172A	NR3C2	NM_000901.5(NR3C2):c.1689C>T:p.His563=	coding	Benign
4	148435200	T	C	T148435200C	NR3C2	NM_000901.5(NR3C2):c.1661A>G:p.Asn554Ser	coding	Benign/Likely_benign
4	148435252	G	A	G148435252A	NR3C2	NM_000901.5(NR3C2):c.1609C>T:p.Arg537Ter	coding	Pathogenic
4	148435364	A	G	A148435364G	NR3C2	NM_000901.5(NR3C2):c.1497T>C:p.Asp499=	coding	Benign
4	148435452	G	T	G148435452T	NR3C2	NM_000901.5(NR3C2):c.1409C>A:p.Ser470Ter	coding	Pathogenic
4	148435463	A	G	A148435463G	NR3C2	NM_000901.5(NR3C2):c.1398T>C:p.Tyr466=	coding	Benign/Likely_benign
4	148435530	T	G	T148435530G	NR3C2	NM_000901.5(NR3C2):c.1331A>C:p.Asn444Thr	coding	Benign
4	148435553	A	T	A148435553T	NR3C2	NM_000901.5(NR3C2):c.1308T>A:p.Cys436Ter	coding	Pathogenic
4	148435769	C	T	C148435769T	NR3C2	NM_000901.5(NR3C2):c.1092G>A:p.Thr364=	coding	Benign
4	148436094	T	C	T148436094C	NR3C2	NM_000901.5(NR3C2):c.767A>G:p.Asn256Ser	coding	Benign
4	148436323	C	T	C148436323T	NR3C2	NM_000901.5(NR3C2):c.538G>A:p.Val180Ile	coding	Benign
4	148436373	G	C	G148436373C	NR3C2	NM_000901.5(NR3C2):c.488C>G:p.Ser163Ter	coding	Pathogenic
4	148436412	C	T	C148436412T	NR3C2	NM_000901.5(NR3C2):c.449G>A:p.Arg150His	coding	Benign
4	148436758	C	G	C148436758G	NR3C2	NM_000901.5(NR3C2):c.103G>C:p.Glu35Gln	coding	Benign
4	148436862	G	C	G148436862C	NR3C2	NM_000901.5(NR3C2):c.-2C>G	noncoding	Benign
4	148442150	C	T	C148442150T	NR3C2	NM_000901.5(NR3C2):c.-3+10G>A	noncoding	Benign
4	148442165	T	A	T148442165A	NR3C2	NM_000901.5(NR3C2):c.-8A>T	noncoding	Benign
4	148442370	C	T	C148442370T	NR3C2	NM_000901.5(NR3C2):c.-213G>A	noncoding	Benign
4	150265713	C	A	C150265713A	LRBA	NM_001364905.1(LRBA):c.*9G>T	noncoding	Benign
4	150277861	G	A	G150277861A	LRBA	NM_001364905.1(LRBA):c.8460C>T:p.Tyr2820=	coding	Benign
4	150277918	C	G	C150277918G	LRBA	NM_001364905.1(LRBA):c.8403G>C:p.Lys2801Asn	coding	Benign
4	150277928	G	A	G150277928A	LRBA	NM_001364905.1(LRBA):c.8393C>T:p.Ser2798Leu	coding	Benign
4	150277989	G	A	G150277989A	LRBA	NM_001364905.1(LRBA):c.8332C>T:p.Arg2778Ter	coding	Pathogenic
4	150277993	C	T	C150277993T	LRBA	NM_001364905.1(LRBA):c.8328G>A:p.Leu2776=	coding	Benign
4	150278345	A	G	A150278345G	LRBA	NM_001364905.1(LRBA):c.8317-341T>C	noncoding	Benign
4	150285946	C	G	C150285946G	LRBA	NM_001364905.1(LRBA):c.8106G>C:p.Leu2702Phe	coding	Benign
4	150285964	C	T	C150285964T	LRBA	NM_001364905.1(LRBA):c.8088G>A:p.Ala2696=	coding	Benign
4	150285975	C	T	C150285975T	LRBA	NM_001364905.1(LRBA):c.8077G>A:p.Ala2693Thr	coding	Benign
4	150302705	A	C	A150302705C	LRBA	NM_001364905.1(LRBA):c.7937T>G:p.Ile2646Ser	coding	Pathogenic
4	150310219	T	C	T150310219C	LRBA	NM_001364905.1(LRBA):c.7849+10A>G	noncoding	Benign
4	150321181	C	G	C150321181G	LRBA	NM_001364905.1(LRBA):c.7630+10G>C	noncoding	Benign
4	150325857	A	G	A150325857G	LRBA	NM_001364905.1(LRBA):c.7404T>C:p.Ser2468=	coding	Benign
4	150435614	C	A	C150435614A	LRBA	NM_001364905.1(LRBA):c.7016G>T:p.Ser2339Ile	coding	Benign
4	150435623	C	T	C150435623T	LRBA	NM_001364905.1(LRBA):c.7007G>A:p.Trp2336Ter	coding	Pathogenic
4	150436867	G	A	G150436867A	LRBA	NM_001364905.1(LRBA):c.6781-3C>T	noncoding	Benign
4	150471684	G	A	G150471684A	LRBA	NM_001364905.1(LRBA):c.6607C>T:p.Arg2203Ter	coding	Pathogenic/Likely_pathogenic
4	150490979	T	G	T150490979G	LRBA	NM_001364905.1(LRBA):c.6387A>C:p.Ser2129=	coding	Benign
4	150583180	C	G	C150583180G	MAB21L2	NM_006439.5(MAB21L2):c.151C>G:p.Arg51Gly	coding	Pathogenic
4	150597121	A	G	A150597121G	LRBA	NM_001364905.1(LRBA):c.6046+1886T>C	noncoding	Benign/Likely_benign
4	150599064	G	A	G150599064A	LRBA	NM_001364905.1(LRBA):c.5989C>T:p.Arg1997Cys	coding	Benign/Likely_benign
4	150798111	A	G	A150798111G	LRBA	NM_001364905.1(LRBA):c.5550T>C:p.Val1850=	coding	Benign
4	150817188	A	G	A150817188G	LRBA	NM_001364905.1(LRBA):c.5241T>C:p.Asn1747=	coding	Benign/Likely_benign
4	150828251	C	A	C150828251A	LRBA	NM_001364905.1(LRBA):c.5100G>T:p.Leu1700=	coding	Benign
4	150828304	G	A	G150828304A	LRBA	NM_001364905.1(LRBA):c.5047C>T:p.Arg1683Ter	coding	Pathogenic
4	150828320	A	G	A150828320G	LRBA	NM_001364905.1(LRBA):c.5031T>C:p.Asn1677=	coding	Benign
4	150831833	C	T	C150831833T	LRBA	NM_001364905.1(LRBA):c.4713G>A:p.Glu1571=	coding	Benign
4	150844091	G	A	G150844091A	LRBA	NM_001364905.1(LRBA):c.4569+9C>T	noncoding	Benign
4	150844147	G	A	G150844147A	LRBA	NM_001364905.1(LRBA):c.4522C>T:p.Gln1508Ter	coding	Pathogenic
4	150844184	G	A	G150844184A	LRBA	NM_001364905.1(LRBA):c.4485C>T:p.Gly1495=	coding	Benign
4	150848824	G	A	G150848824A	LRBA	NM_001364905.1(LRBA):c.4333C>T:p.Arg1445Ter	coding	Pathogenic
4	150848834	C	A	C150848834A	LRBA	NM_001364905.1(LRBA):c.4323G>T:p.Arg1441=	coding	Benign
4	150850780	T	C	T150850780C	LRBA	NM_001364905.1(LRBA):c.3948A>G:p.Gln1316=	coding	Benign/Likely_benign
4	150850854	C	T	C150850854T	LRBA	NM_001364905.1(LRBA):c.3874G>A:p.Val1292Ile	coding	Benign
4	150850869	T	C	T150850869C	LRBA	NM_001364905.1(LRBA):c.3859A>G:p.Ile1287Val	coding	Benign/Likely_benign
4	150850907	T	C	T150850907C	LRBA	NM_001364905.1(LRBA):c.3826-5A>G	noncoding	Benign/Likely_benign
4	150851899	G	A	G150851899A	LRBA	NM_001364905.1(LRBA):c.3811C>T:p.Arg1271Ter	coding	Pathogenic
4	150852021	C	T	C150852021T	LRBA	NM_001364905.1(LRBA):c.3689G>A:p.Gly1230Asp	coding	Benign
4	150852026	A	G	A150852026G	LRBA	NM_001364905.1(LRBA):c.3684T>C:p.Cys1228=	coding	Benign
4	150852142	T	C	T150852142C	LRBA	NM_001364905.1(LRBA):c.3568A>G:p.Met1190Val	coding	Benign
4	150852287	G	A	G150852287A	LRBA	NM_001364905.1(LRBA):c.3423C>T:p.Ala1141=	coding	Benign
4	150852379	C	A	C150852379A	LRBA	NM_001364905.1(LRBA):c.3331G>T:p.Val1111Leu	coding	Benign
4	150852441	G	C	G150852441C	LRBA	NM_001364905.1(LRBA):c.3269C>G:p.Ala1090Gly	coding	Benign
4	150852560	T	C	T150852560C	LRBA	NM_001364905.1(LRBA):c.3150A>G:p.Val1050=	coding	Benign
4	150867669	A	G	A150867669G	LRBA	NM_001364905.1(LRBA):c.2766+2T>C	noncoding	Pathogenic
4	150867763	C	T	C150867763T	LRBA	NM_001364905.1(LRBA):c.2674G>A:p.Ala892Thr	coding	Benign
4	150867803	A	C	A150867803C	LRBA	NM_001364905.1(LRBA):c.2634T>G:p.Pro878=	coding	Benign
4	150868229	A	G	A150868229G	LRBA	NM_001364905.1(LRBA):c.2526T>C:p.Phe842=	coding	Benign/Likely_benign
4	150868276	G	A	G150868276A	LRBA	NM_001364905.1(LRBA):c.2479C>T:p.Arg827Ter	coding	Pathogenic
4	150868283	G	A	G150868283A	LRBA	NM_001364905.1(LRBA):c.2472C>T:p.Thr824=	coding	Benign
4	150868286	C	T	C150868286T	LRBA	NM_001364905.1(LRBA):c.2469G>A:p.Ala823=	coding	Benign
4	150870530	T	C	T150870530C	LRBA	NM_001364905.1(LRBA):c.2444A>G:p.Asn815Ser	coding	Benign/Likely_benign
4	150871437	T	G	T150871437G	LRBA	NM_001364905.1(LRBA):c.2275A>C:p.Met759Leu	coding	Benign
4	150872751	T	C	T150872751C	LRBA	NM_001364905.1(LRBA):c.2170A>G:p.Ile724Val	coding	Benign
4	150896429	G	A	G150896429A	LRBA	NM_001364905.1(LRBA):c.2032C>T:p.Gln678Ter	coding	Pathogenic
4	150897780	G	A	G150897780A	LRBA	NM_001364905.1(LRBA):c.1963C>T:p.Arg655Ter	coding	Pathogenic
4	150905904	G	T	G150905904T	LRBA	NM_001364905.1(LRBA):c.1689C>A:p.Pro563=	coding	Benign
4	150905994	C	A	C150905994A	LRBA	NM_001364905.1(LRBA):c.1603-4G>T	noncoding	Benign
4	150906386	T	C	T150906386C	LRBA	NM_001364905.1(LRBA):c.1513A>G:p.Ile505Val	coding	Benign
4	150914212	A	G	A150914212G	LRBA	NM_001364905.1(LRBA):c.1144T>C:p.Leu382=	coding	Benign
4	150914350	G	A	G150914350A	LRBA	NM_001364905.1(LRBA):c.1015-9C>T	noncoding	Benign
4	150929074	G	A	G150929074A	LRBA	NM_001364905.1(LRBA):c.217-9C>T	noncoding	Benign
4	151014439	A	G	A151014439G	LRBA	NM_001364905.1(LRBA):c.204T>C:p.Thr68=	coding	Benign
4	151014468	C	A	C151014468A	LRBA	NM_001364905.1(LRBA):c.175G>T:p.Glu59Ter	coding	Pathogenic
4	151014529	C	A	C151014529A	LRBA	NM_001364905.1(LRBA):c.114G>T:p.Gly38=	coding	Benign/Likely_benign
4	151014591	C	T	C151014591T	LRBA	NM_001364905.1(LRBA):c.52G>A:p.Gly18Arg	coding	Benign
4	151100479	A	T	A151100479T	RPS3A	NM_001006.5(RPS3A):c.63-6A>T	noncoding	Benign
4	151656374	C	T	C151656374T	FAM160A1	NM_001109977.3(FAM160A1):c.2694C>T:p.Asn898=	coding	Benign
4	151701381	T	C	T151701381C	GATB	NM_004564.3(GATB):c.1145A>G:p.Glu382Gly	coding	Benign
4	151719458	A	C	A151719458C	GATB	NM_004564.3(GATB):c.408T>G:p.Phe136Leu	coding	Pathogenic
4	152964952	G	A	G152964952A	FHDC1	NM_033393.2(FHDC1):c.1077G>A:p.Leu359=	coding	Benign
4	152972418	A	G	A152972418G	FHDC1	NM_033393.2(FHDC1):c.1260A>G:p.Gln420=	coding	Benign
4	152974834	C	A	C152974834A	FHDC1	NM_033393.2(FHDC1):c.1543C>A:p.Leu515Met	coding	Benign
4	152975147	C	A	C152975147A	FHDC1	NM_033393.2(FHDC1):c.1856C>A:p.Ala619Glu	coding	Benign
4	152975163	C	T	C152975163T	FHDC1	NM_033393.2(FHDC1):c.1872C>T:p.Ala624=	coding	Benign
4	152975286	A	T	A152975286T	FHDC1	NM_033393.2(FHDC1):c.1995A>T:p.Pro665=	coding	Benign
4	152975491	A	T	A152975491T	FHDC1	NM_033393.2(FHDC1):c.2200A>T:p.Ser734Cys	coding	Benign
4	152975830	G	A	G152975830A	FHDC1	NM_033393.2(FHDC1):c.2539G>A:p.Gly847Ser	coding	Benign
4	152976538	A	G	A152976538G	FHDC1	NM_033393.2(FHDC1):c.3247A>G:p.Ser1083Gly	coding	Benign
4	153294460	A	T	A153294460T	TRIM2	NM_015271.5(TRIM2):c.761A>T:p.Glu254Val	coding	Pathogenic
4	153295323	C	A	C153295323A	TRIM2	NM_015271.5(TRIM2):c.797C>A:p.Ser266Ter	coding	Pathogenic
4	153295396	C	T	C153295396T	TRIM2	NM_015271.5(TRIM2):c.870C>T:p.Asn290=	coding	Benign
4	153295543	C	T	C153295543T	TRIM2	NM_015271.5(TRIM2):c.1017C>T:p.Ile339=	coding	Benign
4	153350059	T	G	T153350059G	MND1	NM_032117.4(MND1):c.4-5T>G	noncoding	Benign
4	153414812	T	C	T153414812C	MND1	NM_032117.4(MND1):c.573T>C:p.Ile191=	coding	Benign
4	153604294	A	C	A153604294C	TMEM131L	NM_001131007.2(TMEM131L):c.3282A>C:p.Ser1094=	coding	Benign
4	153621754	A	G	A153621754G	TMEM131L	NM_001131007.2(TMEM131L):c.3764A>G:p.Asn1255Ser	coding	Benign
4	153703021	C	A	C153703021A	TLR2	NM_001318789.2(TLR2):c.114C>A:p.Gly38=	coding	Benign
4	153703546	G	C	G153703546C	TLR2	NM_001318789.2(TLR2):c.639G>C:p.Leu213=	coding	Benign
4	153703557	T	C	T153703557C	TLR2	NM_001318789.2(TLR2):c.650T>C:p.Phe217Ser	coding	Benign
4	153704533	C	G	C153704533G	TLR2	NM_001318789.2(TLR2):c.1626C>G:p.Leu542=	coding	Benign
4	153704643	G	A	G153704643A	TLR2	NM_001318789.2(TLR2):c.1736G>A:p.Arg579His	coding	Benign
4	153781759	T	A	T153781759A	SFRP2	NM_003013.3(SFRP2):c.584-4A>T	noncoding	Benign
4	153788590	C	T	C153788590T	SFRP2	NM_003013.3(SFRP2):c.246G>A:p.Leu82=	coding	Benign
4	154540842	A	G	A154540842G	PLRG1	NM_002669.4(PLRG1):c.780T>C:p.Tyr260=	coding	Benign
4	154565984	C	T	C154565984T	FGB	NM_005141.4(FGB):c.291C>T:p.His97=	coding	Benign
4	154566500	T	C	T154566500C	FGB	NM_005141.4(FGB):c.318T>C:p.Cys106=	coding	Benign
4	154567669	C	T	C154567669T	FGB	NM_005141.4(FGB):c.567C>T:p.Ser189=	coding	Benign
4	154567707	T	A	T154567707A	FGB	NM_005141.4(FGB):c.605T>A:p.Leu202Gln	coding	Pathogenic
4	154567781	T	C	T154567781C	FGB	NM_005141.4(FGB):c.679T>C:p.Cys227Arg	coding	Pathogenic
4	154567784	A	G	A154567784G	FGB	NM_005141.4(FGB):c.682A>G:p.Thr228Ala	coding	Benign
4	154569192	G	T	G154569192T	FGB	NM_005141.4(FGB):c.843G>T:p.Val281=	coding	Benign
4	154569320	C	T	C154569320T	FGB	NM_005141.4(FGB):c.958+13C>T	noncoding	Pathogenic
4	154569529	G	C	G154569529C	FGB	NM_005141.4(FGB):c.974G>C:p.Gly325Ala	coding	Pathogenic
4	154569668	A	G	A154569668G	FGB	NM_005141.4(FGB):c.1113A>G:p.Ser371=	coding	Benign/Likely_benign
4	154569680	C	T	C154569680T	FGB	NM_005141.4(FGB):c.1125C>T:p.Tyr375=	coding	Benign
4	154569703	T	G	T154569703G	FGB	NM_005141.4(FGB):c.1148T>G:p.Leu383Arg	coding	Pathogenic
4	154569794	C	T	C154569794T	FGB	NM_005141.4(FGB):c.1239C>T:p.Asp413=	coding	Benign
4	154569800	G	T	G154569800T	FGB	NM_005141.4(FGB):c.1244+1G>T	coding	Pathogenic
4	154570463	G	A	G154570463A	FGB	NM_005141.4(FGB):c.1289G>A:p.Gly430Asp	coding	Pathogenic
4	154570607	G	A	G154570607A	FGB	NM_005141.4(FGB):c.1433G>A:p.Arg478Lys	coding	Benign
4	154571023	G	A	G154571023A	FGB	NM_005141.4(FGB):c.*373G>A	noncoding	Benign
4	154571072	A	C	A154571072C	FGB	NM_005141.4(FGB):c.*422A>C	noncoding	Benign
4	154571093	G	A	G154571093A	FGB	NM_005141.4(FGB):c.*443G>A	noncoding	Benign
4	154571097	T	C	T154571097C	FGB	NM_005141.4(FGB):c.*447T>C	noncoding	Benign
4	154571269	T	C	T154571269C	FGB	NM_005141.4(FGB):c.*619T>C	noncoding	Benign
4	154571568	C	G	C154571568G	FGB	NM_005141.4(FGB):c.*918C>G	noncoding	Benign
4	154571720	G	C	G154571720C	FGB	NM_005141.5(FGB):c.*1070G>C	noncoding	Benign
4	154572019	G	A	G154572019A	FGB	NM_005141.4(FGB):c.*1369G>A	noncoding	Benign
4	154572167	T	C	T154572167C	FGB	NM_005141.4(FGB):c.*1517T>C	noncoding	Benign
4	154572200	C	T	C154572200T	FGB	NM_005141.4(FGB):c.*1550C>T	noncoding	Benign
4	154572267	A	T	A154572267T	FGB	NM_005141.4(FGB):c.*1617A>T	noncoding	Benign
4	154584139	G	A	G154584139A	FGA	NM_000508.5(FGA):c.2586C>T:p.Pro862=	coding	Benign
4	154585711	C	A	C154585711A	FGA	NM_021871.4(FGA):c.1718G>T:p.Arg573Leu	coding	Pathogenic
4	154585795	T	A	T154585795A	FGA	NM_021871.4(FGA):c.1634A>T:p.Glu545Val	coding	Pathogenic
4	154585887	A	G	A154585887G	FGA	NM_021871.4(FGA):c.1542T>C:p.Pro514=	coding	Benign/Likely_benign
4	154586063	T	C	T154586063C	FGA	NM_021871.4(FGA):c.1366A>G:p.Thr456Ala	coding	Benign/Likely_benign
4	154586230	G	A	G154586230A	FGA	NM_021871.4(FGA):c.1199C>T:p.Ser400Phe	coding	Benign/Likely_benign
4	154586438	T	C	T154586438C	FGA	NM_021871.4(FGA):c.991A>G:p.Thr331Ala	coding	Benign
4	154586618	G	A	G154586618A	FGA	NM_021871.4(FGA):c.811C>T:p.Arg271Ter	coding	Pathogenic
4	154586649	C	T	C154586649T	FGA	NM_021871.4(FGA):c.780G>A:p.Glu260=	coding	Benign
4	154587511	C	A	C154587511A	FGA	NM_021871.4(FGA):c.510+1G>T	noncoding	Pathogenic
4	154587520	G	A	G154587520A	FGA	NM_021871.4(FGA):c.502C>T:p.Arg168Ter	coding	Pathogenic
4	154588857	C	T	C154588857T	FGA	NM_021871.4(FGA):c.300G>A:p.Lys100=	coding	Benign/Likely_benign
4	154588990	G	A	G154588990A	FGA	NM_021871.4(FGA):c.181-14C>T	noncoding	Benign/Likely_benign
4	154589513	C	G	C154589513G	FGA	NM_021871.4(FGA):c.104G>C:p.Arg35Pro	coding	Pathogenic
4	154589513	C	T	C154589513T	FGA	NM_021871.4(FGA):c.104G>A:p.Arg35His	coding	Pathogenic
4	154589514	G	A	G154589514A	FGA	NM_000508.3(FGA):c.103C>T:p.Arg35Cys	coding	Pathogenic
4	154589514	G	T	G154589514T	FGA	NM_021871.4(FGA):c.103C>A:p.Arg35Ser	coding	Pathogenic
4	154590672	T	C	T154590672C	FGA	NM_021871.4(FGA):c.16A>G:p.Ile6Val	coding	Benign
4	154590745	T	C	T154590745C	FGA	NM_021871.3(FGA):c.-58A>G	noncoding	Benign
4	154604124	G	A	G154604124A	FGG	NM_000509.5(FGG):c.*216C>T	noncoding	Benign
4	154604986	A	G	A154604986G	FGG	NM_021870.3(FGG):c.1210T>C:p.Ser404Pro	coding	Pathogenic
4	154606812	C	T	C154606812T	FGG	NM_021870.3(FGG):c.1022G>A:p.Trp341Ter	coding	Pathogenic
4	154606932	C	T	C154606932T	FGG	NM_021870.2(FGG):c.902G>A:p.Arg301His	coding	Pathogenic
4	154606933	G	A	G154606933A	FGG	NM_021870.2(FGG):c.901C>T:p.Arg301Cys	coding	Pathogenic
4	154608970	T	A	T154608970A	FGG	NM_021870.3(FGG):c.667-320A>T	noncoding	Pathogenic
4	154609607	A	T	A154609607T	FGG	NM_021870.3(FGG):c.666+23T>A	noncoding	Pathogenic
4	154610181	A	G	A154610181G	FGG	NM_021870.3(FGG):c.418T>C:p.Tyr140His	coding	Benign
4	154611875	T	A	T154611875A	FGG	NM_021870.3(FGG):c.331A>T:p.Lys111Ter	coding	Pathogenic
4	154611897	A	G	A154611897G	FGG	NM_021870.3(FGG):c.309T>C:p.Asn103=	coding	Benign
4	154612013	C	T	C154612013T	FGG	NM_021870.3(FGG):c.307+5G>A	noncoding	Pathogenic
4	154612523	C	T	C154612523T	FGG	NM_021870.3(FGG):c.78+9G>A	noncoding	Benign/Likely_benign
4	154744334	A	G	A154744334G	LRAT	NM_004744.5(LRAT):c.8A>G:p.Asn3Ser	coding	Benign
4	154744400	T	A	T154744400A	LRAT	NM_004744.5(LRAT):c.74T>A:p.Phe25Tyr	coding	Benign
4	154744668	G	A	G154744668A	LRAT	NM_004744.5(LRAT):c.342G>A:p.Glu114=	coding	Benign/Likely_benign
4	154744799	G	A	G154744799A	LRAT	NM_004744.5(LRAT):c.473G>A:p.Trp158Ter	coding	Pathogenic
4	154744851	T	A	T154744851A	LRAT	NM_004744.5(LRAT):c.525T>A:p.Ser175Arg	coding	Pathogenic
4	154749070	G	A	G154749070A	LRAT	NM_004744.5(LRAT):c.627G>A:p.Thr209=	coding	Benign
4	154749953	A	G	A154749953G	LRAT	NM_004744.5(LRAT):c.*817A>G	noncoding	Benign/Likely_benign
4	154750474	T	G	T154750474G	LRAT	NM_004744.5(LRAT):c.*1338T>G	noncoding	Benign/Likely_benign
4	154751003	C	T	C154751003T	LRAT	NM_004744.5(LRAT):c.*1867C>T	noncoding	Benign/Likely_benign
4	154751806	G	T	G154751806T	LRAT	NM_004744.5(LRAT):c.*2670G>T	noncoding	Benign/Likely_benign
4	154752754	G	A	G154752754A	LRAT	NM_004744.5(LRAT):c.*3618G>A	noncoding	Benign/Likely_benign
4	155214098	C	T	C155214098T	NPY2R	NM_000910.4(NPY2R):c.159C>T:p.Leu53=	coding	Benign
4	155214453	G	A	G155214453A	NPY2R	NM_000910.4(NPY2R):c.514G>A:p.Ala172Thr	coding	Benign
4	155214593	C	G	C155214593G	NPY2R	NM_000910.4(NPY2R):c.654C>G:p.Val218=	coding	Benign
4	155214917	C	T	C155214917T	NPY2R	NM_000910.4(NPY2R):c.978C>T:p.Gly326=	coding	Benign
4	155696940	G	A	G155696940A	GUCY1A1	NM_001130682.3(GUCY1A1):c.73G>A:p.Val25Ile	coding	Benign
4	155708284	A	G	A155708284G	GUCY1A1	NM_001130682.3(GUCY1A1):c.366A>G:p.Ala122=	coding	Benign
4	155711210	C	T	C155711210T	GUCY1A1	NM_001130682.3(GUCY1A1):c.1045C>T:p.Arg349Ter	coding	Pathogenic
4	155711252	G	A	G155711252A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1086+1G>A	coding	Pathogenic
4	155713269	C	T	C155713269T	GUCY1A1	NM_001130682.3(GUCY1A1):c.1258C>T:p.Arg420Ter	coding	Pathogenic
4	155713448	T	C	T155713448C	GUCY1A1	NM_001130682.3(GUCY1A1):c.1437T>C:p.Asn479=	coding	Benign
4	155713561	G	A	G155713561A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1550G>A:p.Cys517Tyr	coding	Pathogenic
4	155717236	G	A	G155717236A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1650G>A:p.Ala550=	coding	Benign
4	155730112	G	T	G155730112T	GUCY1A1	NM_001130682.3(GUCY1A1):c.1954G>T:p.Gly652Ter	coding	Pathogenic
4	155852222	C	A	C155852222A	ASIC5	NM_017419.3(ASIC5):c.680G>T:p.Arg227Ile	coding	Pathogenic
4	155908907	G	C	G155908907C	TDO2	NM_005651.4(TDO2):c.324G>C:p.Met108Ile	coding	Pathogenic
4	155908938	T	C	T155908938C	TDO2	NM_005651.4(TDO2):c.355T>C:p.Ser119Pro	coding	Benign
4	155917416	G	A	G155917416A	TDO2	NM_005651.4(TDO2):c.918G>A:p.Val306=	coding	Benign
4	156767839	G	C	G156767839C	PDGFC	NM_016205.3(PDGFC):c.855C>G:p.Ala285=	coding	Benign
4	156970791	T	C	T156970791C	PDGFC	NM_016205.3(PDGFC):c.113A>G:p.Gln38Arg	coding	Benign
4	157076115	G	A	G157076115A	GLRB	NC_000004.12:g.157076115G>A	noncoding	Benign
4	157076145	C	G	C157076145G	GLRB	NM_001166061.1(GLRB):c.-182C>G	noncoding	Benign
4	157076225	T	C	T157076225C	GLRB	NM_000824.5(GLRB):c.-102T>C	noncoding	Benign
4	157076258	C	T	C157076258T	GLRB	NM_000824.5(GLRB):c.-69C>T	noncoding	Benign
4	157077988	T	C	T157077988C	GLRB	NM_000824.5(GLRB):c.-29-8T>C	noncoding	Benign
4	157077999	G	T	G157077999T	GLRB	NM_000824.5(GLRB):c.-26G>T	noncoding	Benign
4	157078009	A	T	A157078009T	GLRB	NM_000824.5(GLRB):c.-16A>T	noncoding	Benign
4	157078116	A	G	A157078116G	GLRB	NM_000824.5(GLRB):c.92A>G:p.Lys31Arg	coding	Benign
4	157078147	G	A	G157078147A	GLRB	NM_000824.5(GLRB):c.122+1G>A	coding	Pathogenic
4	157078150	T	A	T157078150A	GLRB	NM_000824.5(GLRB):c.122+4T>A	noncoding	Benign
4	157120554	A	G	A157120554G	GLRB	NM_000824.5(GLRB):c.123-2A>G	noncoding	Pathogenic
4	157120670	T	G	T157120670G	GLRB	NM_000824.5(GLRB):c.229+8T>G	noncoding	Benign/Likely_benign
4	157122407	C	T	C157122407T	GLRB	NM_000824.5(GLRB):c.297+10C>T	noncoding	Benign
4	157136705	T	C	T157136705C	GLRB	NM_000824.5(GLRB):c.527+7T>C	noncoding	Benign/Likely_benign
4	157136872	T	G	T157136872G	GLRB	NM_000824.5(GLRB):c.596T>G:p.Met199Arg	coding	Pathogenic
4	157138795	G	A	G157138795A	GLRB	NM_000824.5(GLRB):c.611-14G>A	noncoding	Benign
4	157143807	G	A	G157143807A	GLRB	NM_000824.5(GLRB):c.752G>A:p.Gly251Asp	coding	Pathogenic
4	157143820	C	T	C157143820T	GLRB	NM_000824.5(GLRB):c.765C>T:p.Cys255=	coding	Benign
4	157143963	A	G	A157143963G	GLRB	NM_000824.5(GLRB):c.904+4A>G	noncoding	Benign/Likely_benign
4	157143963	A	T	A157143963T	GLRB	NM_000824.5(GLRB):c.904+4A>T	noncoding	Benign
4	157152761	T	C	T157152761C	GLRB	NM_000824.5(GLRB):c.948T>C:p.Leu316=	coding	Benign
4	157152765	G	A	G157152765A	GLRB	NM_000824.5(GLRB):c.952G>A:p.Ala318Thr	coding	Benign
4	157152857	A	G	A157152857G	GLRB	NM_000824.5(GLRB):c.1044A>G:p.Ala348=	coding	Benign
4	157170614	C	T	C157170614T	GLRB	NM_000824.5(GLRB):c.1380C>T:p.Pro460=	coding	Benign
4	157170619	C	G	C157170619G	GLRB	NM_000824.5(GLRB):c.1385C>G:p.Ala462Gly	coding	Benign
4	157170619	C	T	C157170619T	GLRB	NM_000824.5(GLRB):c.1385C>T:p.Ala462Val	coding	Benign/Likely_benign
4	157170751	A	G	A157170751G	GLRB	NM_000824.5(GLRB):c.*23A>G	noncoding	Benign
4	157170812	G	A	G157170812A	GLRB	NM_000824.5(GLRB):c.*84G>A	noncoding	Benign
4	157170867	G	A	G157170867A	GLRB	NM_000824.5(GLRB):c.*139G>A	noncoding	Benign
4	157170888	G	A	G157170888A	GLRB	NM_000824.5(GLRB):c.*160G>A	noncoding	Benign
4	157170979	A	G	A157170979G	GLRB	NM_000824.5(GLRB):c.*251A>G	noncoding	Benign
4	157171029	C	T	C157171029T	GLRB	NM_000824.5(GLRB):c.*301C>T	noncoding	Benign
4	157171062	T	C	T157171062C	GLRB	NM_000824.5(GLRB):c.*334T>C	noncoding	Benign
4	157171233	T	A	T157171233A	GLRB	NM_000824.5(GLRB):c.*505T>A	noncoding	Benign
4	157171270	T	A	T157171270A	GLRB	NM_000824.5(GLRB):c.*542T>A	noncoding	Benign
4	157171303	T	C	T157171303C	GLRB	NM_000824.5(GLRB):c.*575T>C	noncoding	Benign
4	157171581	T	C	T157171581C	GLRB	NM_000824.5(GLRB):c.*853T>C	noncoding	Benign
4	157171631	T	C	T157171631C	GLRB	NM_000824.5(GLRB):c.*903T>C	noncoding	Benign
4	157171725	A	T	A157171725T	GLRB	NM_000824.5(GLRB):c.*997A>T	noncoding	Benign
4	157171768	A	G	A157171768G	GLRB	NM_000824.5(GLRB):c.*1040A>G	noncoding	Benign
4	157171909	C	T	C157171909T	GLRB	NM_000824.5(GLRB):c.*1181C>T	noncoding	Benign
4	157172073	A	G	A157172073G	GLRB	NM_000824.5(GLRB):c.*1345A>G	noncoding	Benign
4	157172095	T	C	T157172095C	GLRB	NM_000824.4(GLRB):c.*1367T>C	noncoding	Benign
4	157221668	G	T	G157221668T	GRIA2	NM_000826.4(GRIA2):c.90G>T:p.Gly30=	coding	Benign
4	157321506	G	A	G157321506A	GRIA2	NM_000826.4(GRIA2):c.789G>A:p.Val263=	coding	Benign
4	157321522	T	C	T157321522C	GRIA2	NM_000826.4(GRIA2):c.805T>C:p.Leu269=	coding	Benign
4	157332827	T	C	T157332827C	GRIA2	NM_000826.4(GRIA2):c.891T>C:p.Ser297=	coding	Benign
4	157332841	A	G	A157332841G	GRIA2	NM_000826.6(GRIA2):c.905A>G:p.Asp302Gly	coding	Pathogenic
4	157336485	C	A	C157336485A	GRIA2	NM_000826.6(GRIA2):c.1582C>A:p.Pro528Thr	coding	Pathogenic
4	157336728	G	A	G157336728A	GRIA2	NM_000826.6(GRIA2):c.1825G>A:p.Gly609Arg	coding	Pathogenic
4	157336734	G	A	G157336734A	GRIA2	NM_001083619.1(GRIA2):c.1831G>A:p.Asp611Asn	coding	Pathogenic
4	157336742	G	A	G157336742A	GRIA2	NM_000826.4(GRIA2):c.1839G>A:p.Ser613=	coding	Benign
4	157341358	G	C	G157341358C	GRIA2	NM_000826.6(GRIA2):c.1939G>C:p.Val647Leu	coding	Pathogenic
4	157359946	G	A	G157359946A	GRIA2	NM_000826.4(GRIA2):c.2094G>A:p.Ala698=	coding	Benign
4	158672458	T	C	T158672458C	ETFDH	NM_004453.4(ETFDH):c.2T>C:p.Met1Thr	coding	Pathogenic
4	158672490	G	C	G158672490C	ETFDH	NM_004453.4(ETFDH):c.34G>C:p.Ala12Pro	coding	Pathogenic
4	158680524	C	T	C158680524T	ETFDH	NM_004453.4(ETFDH):c.92C>T:p.Thr31Ile	coding	Benign
4	158680553	C	T	C158680553T	ETFDH	NM_004453.4(ETFDH):c.121C>T:p.Arg41Ter	coding	Pathogenic
4	158680589	A	T	A158680589T	ETFDH	NM_004453.4(ETFDH):c.157A>T:p.Lys53Ter	coding	Pathogenic
4	158680603	G	A	G158680603A	ETFDH	NM_004453.4(ETFDH):c.171G>A:p.Trp57Ter	coding	Pathogenic
4	158680608	G	C	G158680608C	ETFDH	NM_004453.4(ETFDH):c.175+1G>C	coding	Pathogenic
4	158682269	G	A	G158682269A	ETFDH	NM_004453.4(ETFDH):c.250G>A:p.Ala84Thr	coding	Pathogenic
4	158682314	C	T	C158682314T	ETFDH	NM_004453.4(ETFDH):c.295C>T:p.Arg99Cys	coding	Pathogenic
4	158682399	T	A	T158682399A	ETFDH	NM_004453.4(ETFDH):c.380T>A:p.Leu127His	coding	Pathogenic/Likely_pathogenic
4	158682400	C	T	C158682400T	ETFDH	NM_004453.4(ETFDH):c.381C>T:p.Leu127=	coding	Benign/Likely_benign
4	158682427	A	T	A158682427T	ETFDH	NM_004453.4(ETFDH):c.405+3A>T	noncoding	Pathogenic/Likely_pathogenic
4	158684599	T	G	T158684599G	ETFDH	NM_004453.4(ETFDH):c.413T>G:p.Leu138Arg	coding	Pathogenic/Likely_pathogenic
4	158684648	C	G	C158684648G	ETFDH	NM_004453.4(ETFDH):c.462C>G:p.Tyr154Ter	coding	Pathogenic
4	158685137	G	A	G158685137A	ETFDH	NM_004453.4(ETFDH):c.524G>A:p.Arg175His	coding	Pathogenic
4	158685137	G	C	G158685137C	ETFDH	NM_004453.4(ETFDH):c.524G>C:p.Arg175Pro	coding	Pathogenic
4	158685137	G	T	G158685137T	ETFDH	NM_004453.4(ETFDH):c.524G>T:p.Arg175Leu	coding	Pathogenic
4	158690427	T	G	T158690427G	ETFDH	NM_004453.4(ETFDH):c.684+2T>G	noncoding	Pathogenic
4	158690438	A	C	A158690438C	ETFDH	NM_004453.4(ETFDH):c.684+13A>C	noncoding	Benign/Likely_benign
4	158695582	A	G	A158695582G	ETFDH	NM_004453.4(ETFDH):c.770A>G:p.Tyr257Cys	coding	Pathogenic
4	158695867	C	T	C158695867T	ETFDH	NM_004453.4(ETFDH):c.831+224C>T	noncoding	Benign
4	158697585	G	A	G158697585A	ETFDH	NM_004453.4(ETFDH):c.858G>A:p.Trp286Ter	coding	Pathogenic
4	158697656	A	G	A158697656G	ETFDH	NM_004453.4(ETFDH):c.929A>G:p.Tyr310Cys	coding	Pathogenic
4	158699015	T	C	T158699015C	ETFDH	NM_004453.4(ETFDH):c.1001T>C:p.Leu334Pro	coding	Pathogenic/Likely_pathogenic
4	158699087	G	A	G158699087A	ETFDH	NM_004453.4(ETFDH):c.1073G>A:p.Arg358Lys	coding	Pathogenic
4	158699094	A	G	A158699094G	ETFDH	NM_004453.4(ETFDH):c.1080A>G:p.Ala360=	coding	Benign/Likely_benign
4	158703436	T	C	T158703436C	ETFDH	NM_004453.4(ETFDH):c.1130T>C:p.Leu377Pro	coding	Pathogenic
4	158703540	G	T	G158703540T	ETFDH	NM_004453.4(ETFDH):c.1234G>T:p.Glu412Ter	coding	Pathogenic
4	158706254	G	C	G158706254C	ETFDH	NM_004453.4(ETFDH):c.1351G>C:p.Val451Leu	coding	Pathogenic
4	158706270	C	T	C158706270T	ETFDH	NM_004453.4(ETFDH):c.1367C>T:p.Pro456Leu	coding	Pathogenic
4	158706277	C	A	C158706277A	ETFDH	NM_004453.4(ETFDH):c.1374C>A:p.Cys458Ter	coding	Pathogenic
4	158706351	C	T	C158706351T	ETFDH	NM_004453.4(ETFDH):c.1448C>T:p.Pro483Leu	coding	Pathogenic
4	158706353	T	C	T158706353C	ETFDH	NM_004453.4(ETFDH):c.1450T>C:p.Trp484Arg	coding	Pathogenic
4	158706386	A	C	A158706386C	ETFDH	NM_004453.4(ETFDH):c.1468+15A>C	noncoding	Benign
4	158706693	T	C	T158706693C	ETFDH	NM_004453.4(ETFDH):c.1533T>C:p.Asp511=	coding	Benign/Likely_benign
4	158706750	A	G	A158706750G	ETFDH	NM_004453.4(ETFDH):c.1590A>G:p.Glu530=	coding	Benign/Likely_benign
4	158706761	C	T	C158706761T	ETFDH	NM_004453.4(ETFDH):c.1601C>T:p.Pro534Leu	coding	Pathogenic
4	158706762	G	A	G158706762A	ETFDH	NM_004453.4(ETFDH):c.1602G>A:p.Pro534=	coding	Benign/Likely_benign
4	158706865	C	T	C158706865T	ETFDH	NM_004453.4(ETFDH):c.1690+15C>T	noncoding	Benign
4	158707142	C	A	C158707142A	ETFDH	NM_004453.4(ETFDH):c.1690+292C>A	noncoding	Benign
4	158708482	G	A	G158708482A	ETFDH	NM_004453.4(ETFDH):c.1809G>A:p.Trp603Ter	coding	Pathogenic
4	158708485	G	A	G158708485A	ETFDH	NM_004453.4(ETFDH):c.1812G>A:p.Val604=	coding	Benign/Likely_benign
4	158708505	G	A	G158708505A	ETFDH	NM_004453.4(ETFDH):c.1832G>A:p.Gly611Glu	coding	Pathogenic/Likely_pathogenic
4	158708662	A	C	A158708662C	ETFDH	NM_004453.4(ETFDH):c.*135A>C	noncoding	Benign
4	158715678	C	T	C158715678T	PPID	NM_005038.3(PPID):c.529G>A:p.Val177Ile	coding	Benign
4	158719171	C	G	C158719171G	PPID	NM_005038.3(PPID):c.333+9G>C	noncoding	Benign
4	158868112	C	T	C158868112T	FNIP2	NM_020840.3(FNIP2):c.1476C>T:p.Tyr492=	coding	Benign
4	158868251	G	C	G158868251C	FNIP2	NM_020840.3(FNIP2):c.1615G>C:p.Gly539Arg	coding	Benign
4	159304389	A	C	A159304389C	RAPGEF2	NM_014247.3(RAPGEF2):c.108A>C:p.Pro36=	coding	Benign
4	159322337	T	C	T159322337C	RAPGEF2	NM_014247.3(RAPGEF2):c.371-10T>C	noncoding	Benign
4	159331475	C	T	C159331475T	RAPGEF2	NM_014247.3(RAPGEF2):c.1029C>T:p.Asp343=	coding	Benign
4	159331662	C	T	C159331662T	RAPGEF2	NM_014247.3(RAPGEF2):c.1125C>T:p.Ile375=	coding	Benign
4	159342988	C	T	C159342988T	RAPGEF2	NM_014247.3(RAPGEF2):c.2445C>T:p.Asn815=	coding	Benign
4	159346784	A	G	A159346784G	RAPGEF2	NM_014247.3(RAPGEF2):c.3020-5A>G	noncoding	Benign
4	159352692	T	G	T159352692G	RAPGEF2	NM_014247.3(RAPGEF2):c.3390T>G:p.Thr1130=	coding	Benign
4	159355959	G	A	G159355959A	RAPGEF2	NM_014247.3(RAPGEF2):c.4275G>A:p.Pro1425=	coding	Benign
4	163325337	T	G	T163325337G	NPY1R	NM_000909.6(NPY1R):c.1121A>C:p.Lys374Thr	coding	Benign
4	163515363	G	A	G163515363A	TMA16	NM_018352.3(TMA16):c.290G>A:p.Ser97Asn	coding	Benign
4	163515469	C	T	C163515469T	TMA16	NM_018352.3(TMA16):c.388+8C>T	noncoding	Benign
4	165337829	A	G	A165337829G	MSMO1	NM_006745.5(MSMO1):c.296A>G:p.Lys99Arg	coding	Benign
4	165337904	A	G	A165337904G	MSMO1	NM_006745.5(MSMO1):c.371A>G:p.Asn124Ser	coding	Benign
4	165337909	C	G	C165337909G	MSMO1	NM_006745.5(MSMO1):c.376C>G:p.Pro126Ala	coding	Benign
4	165338766	T	A	T165338766A	MSMO1	NM_006745.5(MSMO1):c.519T>A:p.His173Gln	coding	Pathogenic
4	165341800	G	C	G165341800C	MSMO1	NM_006745.5(MSMO1):c.736G>C:p.Gly246Arg	coding	Pathogenic
4	165482352	G	A	G165482352A	CPE	NM_001873.4(CPE):c.783G>A:p.Thr261=	coding	Benign
4	165495613	C	T	C165495613T	CPE	NM_001873.4(CPE):c.1268C>T:p.Ala423Val	coding	Benign
4	165873997	C	A	C165873997A	TLL1	NM_012464.5(TLL1):c.93C>A:p.Leu31=	coding	Benign
4	165995090	A	C	A165995090C	TLL1	NM_012464.5(TLL1):c.544A>C:p.Met182Leu	coding	Pathogenic
4	166003471	T	C	T166003471C	TLL1	NM_012464.5(TLL1):c.713T>C:p.Val238Ala	coding	Pathogenic
4	166008057	C	T	C166008057T	TLL1	NM_012464.5(TLL1):c.917+9C>T	noncoding	Benign
4	166043272	A	G	A166043272G	TLL1	NM_012464.5(TLL1):c.1379-2A>G	noncoding	Pathogenic
4	166060066	A	G	A166060066G	TLL1	NM_012464.5(TLL1):c.1885A>G:p.Ile629Val	coding	Pathogenic
4	166065748	A	G	A166065748G	TLL1	NM_012464.5(TLL1):c.2073A>G:p.Lys691=	coding	Benign
4	166065870	G	A	G166065870A	TLL1	NM_012464.5(TLL1):c.2188+7G>A	noncoding	Benign
4	166074933	G	A	G166074933A	TLL1	NM_012464.5(TLL1):c.2244G>A:p.Thr748=	coding	Benign
4	166734925	A	T	A166734925T	SPOCK3	NM_001040159.2(SPOCK3):c.1298T>A:p.Ile433Asn	coding	Benign
4	167000374	T	C	T167000374C	SPOCK3	NM_001040159.2(SPOCK3):c.325A>G:p.Ile109Val	coding	Benign
4	167000408	T	C	T167000408C	SPOCK3	NM_001040159.2(SPOCK3):c.291A>G:p.Val97=	coding	Benign
4	168177938	C	G	C168177938G	ANXA10	NM_007193.5(ANXA10):c.583C>G:p.Leu195Val	coding	Benign
4	168179310	T	C	T168179310C	ANXA10	NM_007193.5(ANXA10):c.722T>C:p.Ile241Thr	coding	Benign
4	168221856	T	C	T168221856C	DDX60	NM_017631.6(DDX60):c.4850A>G:p.Asn1617Ser	coding	Benign
4	168237436	C	G	C168237436G	DDX60	NM_017631.6(DDX60):c.4270-9G>C	noncoding	Benign
4	168306636	T	C	T168306636C	DDX60	NM_017631.6(DDX60):c.349A>G:p.Ile117Val	coding	Benign
4	168497098	G	C	G168497098C	PALLD	NM_001166108.2(PALLD):c.-179G>C	noncoding	Benign
4	168497115	C	T	C168497115T	PALLD	NM_001166108.2(PALLD):c.-162C>T	noncoding	Benign
4	168497116	A	T	A168497116T	PALLD	NM_001166108.2(PALLD):c.-161A>T	noncoding	Benign
4	168497202	A	G	A168497202G	PALLD	NM_001166108.2(PALLD):c.-83+8A>G	noncoding	Benign
4	168511497	G	A	G168511497A	PALLD	NM_001166108.2(PALLD):c.-8G>A	noncoding	Benign
4	168511512	G	T	G168511512T	PALLD	NM_001166108.2(PALLD):c.8G>T:p.Gly3Val	coding	Benign
4	168511522	C	T	C168511522T	PALLD	NM_001166108.2(PALLD):c.18C>T:p.Ser6=	coding	Benign
4	168511569	A	G	A168511569G	PALLD	NM_001166108.2(PALLD):c.65A>G:p.Lys22Arg	coding	Benign
4	168511690	G	A	G168511690A	PALLD	NM_001166108.2(PALLD):c.186G>A:p.Lys62=	coding	Benign
4	168511699	G	A	G168511699A	PALLD	NM_001166108.2(PALLD):c.195G>A:p.Ser65=	coding	Benign
4	168511957	C	T	C168511957T	PALLD	NM_001166108.2(PALLD):c.453C>T:p.Asn151=	coding	Benign
4	168512006	C	G	C168512006G	PALLD	NM_001166108.2(PALLD):c.502C>G:p.Leu168Val	coding	Benign
4	168512060	G	A	G168512060A	PALLD	NM_001166108.2(PALLD):c.556G>A:p.Ala186Thr	coding	Benign
4	168512175	T	C	T168512175C	PALLD	NM_001166108.2(PALLD):c.671T>C:p.Met224Thr	coding	Benign
4	168512176	G	A	G168512176A	PALLD	NM_001166108.2(PALLD):c.672G>A:p.Met224Ile	coding	Benign
4	168512182	C	T	C168512182T	PALLD	NM_001166108.2(PALLD):c.678C>T:p.Asp226=	coding	Benign
4	168512268	G	A	G168512268A	PALLD	NM_001166108.2(PALLD):c.764G>A:p.Arg255His	coding	Benign/Likely_benign
4	168512293	C	T	C168512293T	PALLD	NM_001166108.2(PALLD):c.789C>T:p.Ser263=	coding	Benign
4	168685498	C	A	C168685498A	PALLD	NM_001166108.2(PALLD):c.1274C>A:p.Thr425Asn	coding	Benign
4	168690614	C	T	C168690614T	PALLD	NM_001166108.2(PALLD):c.1347C>T:p.Asn449=	coding	Benign
4	168709053	T	G	T168709053G	PALLD	NM_001166108.2(PALLD):c.1527T>G:p.Ala509=	coding	Benign
4	168711808	C	T	C168711808T	PALLD	NM_001166108.2(PALLD):c.1849C>T:p.Arg617Cys	coding	Benign/Likely_benign
4	168711831	C	T	C168711831T	PALLD	NM_001166108.2(PALLD):c.1872C>T:p.Asn624=	coding	Benign
4	168877906	C	T	C168877906T	PALLD	NM_001166108.2(PALLD):c.1965-13016C>T	coding	Benign
4	168877969	C	T	C168877969T	PALLD	NM_001166108.2(PALLD):c.1965-12953C>T	coding	Benign
4	168878012	C	G	C168878012G	PALLD	NM_001166108.2(PALLD):c.1965-12910C>G	coding	Benign
4	168878158	G	C	G168878158C	PALLD	NM_001166108.2(PALLD):c.1965-12764G>C	coding	Benign
4	168878164	G	C	G168878164C	PALLD	NM_001166108.2(PALLD):c.1965-12758G>C	coding	Benign
4	168878167	A	C	A168878167C	PALLD	NM_001166108.2(PALLD):c.1965-12755A>C	coding	Benign
4	168878186	A	C	A168878186C	PALLD	NM_001166108.2(PALLD):c.1965-12736A>C	coding	Benign
4	168878257	G	C	G168878257C	PALLD	NM_001166108.2(PALLD):c.1965-12665G>C	coding	Benign/Likely_benign
4	168878286	G	A	G168878286A	PALLD	NM_001166108.2(PALLD):c.1965-12636G>A	coding	Benign/Likely_benign
4	168878297	A	G	A168878297G	PALLD	NM_001166108.2(PALLD):c.1965-12625A>G	coding	Benign
4	168878357	G	A	G168878357A	PALLD	NM_001166108.2(PALLD):c.1965-12565G>A	coding	Benign
4	168898684	A	G	A168898684G	PALLD	NM_001166108.2(PALLD):c.2442A>G:p.Thr814=	coding	Benign/Likely_benign
4	168913983	A	G	A168913983G	PALLD	NM_001166108.2(PALLD):c.2679A>G:p.Arg893=	coding	Benign
4	168915925	C	T	C168915925T	PALLD	NM_001166108.2(PALLD):c.2748C>T:p.Asp916=	coding	Benign
4	168915961	T	C	T168915961C	PALLD	NM_001166108.2(PALLD):c.2784T>C:p.Pro928=	coding	Benign
4	168921575	T	C	T168921575C	PALLD	NM_001166108.2(PALLD):c.2892T>C:p.Asp964=	coding	Benign
4	168924346	A	G	A168924346G	PALLD	NM_001166108.2(PALLD):c.3150A>G:p.Val1050=	coding	Benign
4	168924976	C	T	C168924976T	PALLD	NM_001166108.2(PALLD):c.3256C>T:p.Leu1086=	coding	Benign
4	168925017	T	C	T168925017C	PALLD	NM_001166108.2(PALLD):c.3297T>C:p.Tyr1099=	coding	Benign/Likely_benign
4	168925229	G	A	G168925229A	PALLD	NM_001166108.2(PALLD):c.3359-4G>A	noncoding	Benign
4	168926209	G	A	G168926209A	PALLD	NM_001166108.2(PALLD):c.33-4G>A	noncoding	Benign/Likely_benign
4	168926672	A	G	A168926672G	PALLD	NM_001166108.2(PALLD):c.*492A>G	noncoding	Benign
4	168927126	C	A	C168927126A	PALLD	NM_001166108.2(PALLD):c.*946C>A	noncoding	Benign
4	168927172	A	G	A168927172G	PALLD	NM_001166108.2(PALLD):c.*992A>G	noncoding	Benign
4	168927174	A	G	A168927174G	PALLD	NM_001166108.2(PALLD):c.*994A>G	noncoding	Benign
4	168927312	T	C	T168927312C	PALLD	NM_001166108.2(PALLD):c.*1132T>C	noncoding	Benign
4	168927344	T	G	T168927344G	PALLD	NM_001166108.2(PALLD):c.*1164T>G	noncoding	Benign
4	168927774	T	C	T168927774C	PALLD	NM_001166108.2(PALLD):c.*1594T>C	noncoding	Benign
4	168928009	T	C	T168928009C	PALLD	NM_001166108.2(PALLD):c.*1829T>C	noncoding	Benign
4	168928086	G	A	G168928086A	PALLD	NM_001166108.2(PALLD):c.*1906G>A	noncoding	Benign
4	168928238	C	G	C168928238G	PALLD	NM_001166108.2(PALLD):c.*2058C>G	noncoding	Benign
4	168928394	C	T	C168928394T	PALLD	NM_001166108.2(PALLD):c.*2214C>T	noncoding	Benign
4	169106894	G	A	G169106894A	SH3RF1	NM_020870.4(SH3RF1):c.2451C>T:p.Ser817=	coding	Benign
4	169116507	G	A	G169116507A	SH3RF1	NM_020870.4(SH3RF1):c.1901C>T:p.Ala634Val	coding	Benign
4	169393800	T	C	T169393800C	NEK1	NM_012224.3(NEK1):c.*710A>G	noncoding	Benign
4	169393959	T	A	T169393959A	NEK1	NM_001199397.3(NEK1):c.*551A>T	noncoding	Benign
4	169394015	A	G	A169394015G	NEK1	NM_012224.3(NEK1):c.*495T>C	noncoding	Benign
4	169394345	C	T	C169394345T	NEK1	NM_012224.3(NEK1):c.*165G>A	noncoding	Benign
4	169394356	C	T	C169394356T	NEK1	NM_012224.3(NEK1):c.*154G>A	noncoding	Benign
4	169394721	G	A	G169394721A	NEK1	NM_012224.3(NEK1):c.3764-198C>T	noncoding	Benign
4	169400242	T	G	T169400242G	NEK1	NM_012224.3(NEK1):c.3746A>C:p.Asp1249Ala	coding	Pathogenic
4	169400611	A	G	A169400611G	NEK1	NM_012224.3(NEK1):c.3540T>C:p.Asp1180=	coding	Benign
4	169400619	C	A	C169400619A	NEK1	NM_012224.3(NEK1):c.3532G>T:p.Glu1178Ter	coding	Pathogenic
4	169406685	G	A	G169406685A	NEK1	NM_012224.3(NEK1):c.3201C>T:p.Pro1067=	coding	Benign
4	169407058	A	G	A169407058G	NEK1	NM_012224.3(NEK1):c.3139-311T>C	noncoding	Benign
4	169424562	G	A	G169424562A	NEK1	NM_012224.3(NEK1):c.3129C>T:p.Asn1043=	coding	Benign
4	169424668	G	C	G169424668C	NEK1	NM_001199397.3(NEK1):c.3107C>G:p.Ser1036Ter	coding	Pathogenic/Likely_pathogenic
4	169424742	C	T	C169424742T	NEK1	NM_012224.3(NEK1):c.2949G>A:p.Pro983=	coding	Benign
4	169424939	C	T	C169424939T	NEK1	NM_012224.3(NEK1):c.2891-139G>A	noncoding	Benign
4	169426235	C	T	C169426235T	NEK1	NM_001199397.2(NEK1):c.2886-1G>A	coding	Pathogenic
4	169433325	G	C	G169433325C	NEK1	NM_012224.3(NEK1):c.2801+220C>G	noncoding	Benign
4	169433685	C	T	C169433685T	NEK1	NM_012224.3(NEK1):c.2681-20G>A	noncoding	Benign
4	169438071	A	T	A169438071T	NEK1	NM_012224.3(NEK1):c.2680+12T>A	noncoding	Benign
4	169438116	G	C	G169438116C	NEK1	NM_012224.3(NEK1):c.2647C>G:p.Gln883Glu	coding	Benign
4	169477303	T	C	T169477303C	NEK1	NM_012224.3(NEK1):c.2171A>G:p.Glu724Gly	coding	Benign
4	169477566	C	T	C169477566T	NEK1	NM_012224.3(NEK1):c.2056-69G>A	noncoding	Benign
4	169477692	T	C	T169477692C	NEK1	NM_012224.3(NEK1):c.2056-195A>G	noncoding	Benign
4	169507692	C	A	C169507692A	NEK1	NM_012224.3(NEK1):c.1827+23G>T	noncoding	Benign
4	169507750	C	T	C169507750T	NEK1	NM_012224.3(NEK1):c.1792G>A:p.Ala598Thr	coding	Benign
4	169508090	T	A	T169508090A	NEK1	NM_012224.3(NEK1):c.1749+158A>T	noncoding	Benign
4	169508208	C	T	C169508208T	NEK1	NM_012224.3(NEK1):c.1749+40G>A	noncoding	Benign
4	169508251	T	C	T169508251C	NEK1	NM_012224.3(NEK1):c.1746A>G:p.Glu582=	coding	Benign
4	169537856	G	A	G169537856A	NEK1	NM_001199397.2(NEK1):c.1618C>T:p.Arg540Ter	coding	Pathogenic
4	169537893	A	G	A169537893G	NEK1	NM_012224.3(NEK1):c.1581T>C:p.Ala527=	coding	Benign/Likely_benign
4	169555421	G	C	G169555421C	NEK1	NM_012224.3(NEK1):c.1562+299C>G	noncoding	Benign
4	169555938	G	C	G169555938C	NEK1	NM_001199397.3(NEK1):c.1424C>G:p.Pro475Arg	coding	Benign
4	169555974	G	A	G169555974A	NEK1	NM_012224.3(NEK1):c.1388C>T:p.Ala463Val	coding	Benign/Likely_benign
4	169561520	C	T	C169561520T	NEK1	NM_001199397.2(NEK1):c.1226G>A:p.Trp409Ter	coding	Pathogenic
4	169561732	A	G	A169561732G	NEK1	NM_012224.3(NEK1):c.1146T>C:p.Ile382=	coding	Benign
4	169562149	C	T	C169562149T	NEK1	NM_012224.3(NEK1):c.1068G>A:p.Arg356=	coding	Benign
4	169576973	T	C	T169576973C	NEK1	NM_012224.3(NEK1):c.975A>G:p.Gly325=	coding	Benign/Likely_benign
4	169577080	C	A	C169577080A	NEK1	NM_012224.3(NEK1):c.869-1G>T	coding	Pathogenic
4	169577081	T	C	T169577081C	NEK1	NM_012224.3(NEK1):c.869-2A>G	noncoding	Pathogenic
4	169577119	T	C	T169577119C	NEK1	NM_012224.3(NEK1):c.869-40A>G	noncoding	Benign
4	169580699	A	T	A169580699T	NEK1	NM_012224.3(NEK1):c.868+143T>A	noncoding	Benign
4	169580803	T	C	T169580803C	NEK1	NM_012224.3(NEK1):c.868+39A>G	noncoding	Benign
4	169585538	G	T	G169585538T	NEK1	NM_012224.3(NEK1):c.618C>A:p.Gly206=	coding	Benign/Likely_benign
4	169585552	A	G	A169585552G	NEK1	NM_012224.3(NEK1):c.607-3T>C	noncoding	Benign
4	169585808	A	G	A169585808G	NEK1	NM_012224.3(NEK1):c.607-259T>C	noncoding	Benign
4	169585839	C	T	C169585839T	NEK1	NM_012224.3(NEK1):c.607-290G>A	noncoding	Benign
4	169587435	T	C	T169587435C	NEK1	NM_012224.3(NEK1):c.606+124A>G	noncoding	Benign
4	169587883	T	C	T169587883C	NEK1	NM_012224.3(NEK1):c.552-270A>G	noncoding	Benign
4	169588686	G	A	G169588686A	NEK1	NM_012224.3(NEK1):c.514C>T:p.Pro172Ser	coding	Pathogenic
4	169589478	C	T	C169589478T	NEK1	NM_012224.3(NEK1):c.433G>A:p.Gly145Arg	coding	Pathogenic
4	169589493	C	T	C169589493T	NEK1	NM_001199397.2(NEK1):c.418G>A:p.Gly140Arg	coding	Pathogenic
4	169590743	G	A	G169590743A	NEK1	NM_012224.3(NEK1):c.379C>T:p.Arg127Ter	coding	Pathogenic
4	169602513	C	T	C169602513T	NEK1	NM_012224.3(NEK1):c.117+1G>A	noncoding	Pathogenic
4	169602767	T	C	T169602767C	NEK1	NM_012224.3(NEK1):c.-48-89A>G	noncoding	Benign
4	169612577	C	T	C169612577T	NEK1	NM_012224.3(NEK1):c.-606G>A	noncoding	Benign
4	169612585	G	T	G169612585T	NEK1	NM_012224.2(NEK1):c.-614C>A	noncoding	Benign
4	169612611	A	C	A169612611C	NEK1	NC_000004.12:g.169612611A>C	noncoding	Benign
4	169612625	G	A	G169612625A	NEK1	NM_012224.2(NEK1):c.-654C>T	noncoding	Benign
4	173302131	T	C	T173302131C	GALNT7	NM_017423.3(GALNT7):c.1233T>C:p.Ile411=	coding	Benign
4	173314029	G	T	G173314029T	GALNT7	NM_017423.3(GALNT7):c.1461G>T:p.Ser487=	coding	Benign
4	173529091	C	A	C173529091A	HAND2	NM_021973.3(HAND2):c.199G>T:p.Glu67Ter	coding	Pathogenic
4	174237490	G	A	G174237490A	FBXO8	NM_012180.3(FBXO8):c.882C>T:p.Arg294=	coding	Benign
4	174237602	G	A	G174237602A	FBXO8	NM_012180.3(FBXO8):c.773-3C>T	noncoding	Benign
4	174259787	T	C	T174259787C	FBXO8	NM_012180.3(FBXO8):c.368A>G:p.Asn123Ser	coding	Benign
4	174490230	G	A	G174490230A	HPGD	NM_000860.6(HPGD):c.*1726C>T	noncoding	Benign
4	174490231	C	T	C174490231T	HPGD	NM_000860.6(HPGD):c.*1725G>A	noncoding	Benign
4	174490802	A	G	A174490802G	HPGD	NM_000860.6(HPGD):c.*1154T>C	noncoding	Benign
4	174491326	C	T	C174491326T	HPGD	NM_000860.6(HPGD):c.*630G>A	noncoding	Benign
4	174491538	C	A	C174491538A	HPGD	NM_000860.6(HPGD):c.*418G>T	noncoding	Benign
4	174491824	C	T	C174491824T	HPGD	NM_000860.6(HPGD):c.*132G>A	noncoding	Benign
4	174492077	T	C	T174492077C	HPGD	NM_000860.6(HPGD):c.680A>G:p.Asn227Ser	coding	Benign
4	174493179	C	T	C174493179T	HPGD	NM_000860.6(HPGD):c.634G>A:p.Asp212Asn	coding	Benign
4	174493236	A	G	A174493236G	HPGD	NM_000860.6(HPGD):c.577T>C:p.Ser193Pro	coding	Pathogenic
4	174493291	A	G	A174493291G	HPGD	NM_000860.6(HPGD):c.522T>C:p.Ser174=	coding	Benign
4	174495557	G	A	G174495557A	HPGD	NM_000860.6(HPGD):c.489C>T:p.Arg163=	coding	Benign
4	174495614	G	A	G174495614A	HPGD	NM_000860.6(HPGD):c.432C>T:p.Pro144=	coding	Benign/Likely_benign
4	174508699	C	G	C174508699G	HPGD	NM_000860.6(HPGD):c.418G>C:p.Ala140Pro	coding	Pathogenic
4	174517982	G	A	G174517982A	HPGD	NM_000860.6(HPGD):c.313C>T:p.Gln105Ter	coding	Pathogenic
4	174522005	C	T	C174522005T	HPGD	NM_000860.6(HPGD):c.156G>A:p.Gln52=	coding	Benign
4	174522418	C	T	C174522418T	HPGD	NM_000860.6(HPGD):c.34G>A:p.Gly12Ser	coding	Pathogenic
4	174522451	T	A	T174522451A	HPGD	NM_000860.6(HPGD):c.1A>T:p.Met1Leu	coding	Pathogenic
4	174522855	C	G	C174522855G	HPGD	NM_001256301.1(HPGD):c.-502G>C	noncoding	Benign
4	174522904	T	C	T174522904C	HPGD	NM_000860.5(HPGD):c.-453A>G	noncoding	Benign
4	174828785	T	A	T174828785A	GLRA3	NM_006529.4(GLRA3):c.27A>T:p.Thr9=	coding	Benign
4	176711575	G	A	G176711575A	VEGFC	NM_005429.5(VEGFC):c.628C>T:p.Arg210Ter	coding	Pathogenic
4	176727970	T	A	T176727970A	VEGFC	NM_005429.5(VEGFC):c.362-2A>T	noncoding	Pathogenic
4	176792276	A	T	A176792276T	VEGFC	NM_005429.5(VEGFC):c.36T>A:p.Ser12=	coding	Benign
4	177430826	T	G	T177430826G	AGA	NM_000027.4(AGA):c.*882A>C	noncoding	Benign
4	177431525	T	G	T177431525G	AGA	NM_000027.4(AGA):c.*183A>C	noncoding	Benign
4	177431784	G	A	G177431784A	AGA	NM_000027.4(AGA):c.965C>T:p.Thr322Ile	coding	Benign/Likely_benign
4	177431892	G	C	G177431892C	AGA	NM_000027.4(AGA):c.941-84C>G	noncoding	Benign
4	177433238	A	G	A177433238G	AGA	NM_000027.4(AGA):c.916T>C:p.Cys306Arg	coding	Pathogenic
4	177433250	C	T	C177433250T	AGA	NM_000027.4(AGA):c.904G>A:p.Gly302Arg	coding	Pathogenic
4	177433252	A	G	A177433252G	AGA	NM_000027.4(AGA):c.902T>C:p.Phe301Ser	coding	Benign/Likely_benign
4	177433295	G	A	G177433295A	AGA	NM_000027.4(AGA):c.859C>T:p.Gln287Ter	coding	Pathogenic
4	177433513	C	A	C177433513A	AGA	NM_000027.4(AGA):c.807-166G>T	noncoding	Benign
4	177433526	A	T	A177433526T	AGA	NM_000027.4(AGA):c.807-179T>A	noncoding	Benign
4	177434444	G	A	G177434444A	AGA	NM_000027.4(AGA):c.744C>T:p.Asp248=	coding	Benign
4	177434514	C	G	C177434514G	AGA	NM_000027.4(AGA):c.699-25G>C	noncoding	Benign
4	177434726	C	T	C177434726T	AGA	NM_000027.4(AGA):c.699-237G>A	noncoding	Benign
4	177436297	C	T	C177436297T	AGA	NM_000027.4(AGA):c.677G>A:p.Gly226Asp	coding	Pathogenic/Likely_pathogenic
4	177438764	C	G	C177438764G	AGA	NM_000027.4(AGA):c.488G>C:p.Cys163Ser	coding	Pathogenic
4	177438779	C	T	C177438779T	AGA	NM_000027.4(AGA):c.473G>A:p.Trp158Ter	coding	Pathogenic/Likely_pathogenic
4	177438806	G	C	G177438806C	AGA	NM_000027.4(AGA):c.446C>G:p.Thr149Ser	coding	Benign
4	177439042	T	C	T177439042C	AGA	NM_000027.4(AGA):c.395-185A>G	noncoding	Benign
4	177439651	G	A	G177439651A	AGA	NM_000027.4(AGA):c.319C>T:p.Arg107Ter	coding	Pathogenic
4	177439657	G	T	G177439657T	AGA	NM_000027.4(AGA):c.313C>A:p.Leu105Ile	coding	Benign/Likely_benign
4	177440260	A	C	A177440260C	AGA	NM_000027.4(AGA):c.281+13T>G	noncoding	Benign/Likely_benign
4	177440340	A	G	A177440340G	AGA	NM_000027.4(AGA):c.214T>C:p.Ser72Pro	coding	Pathogenic
4	177442224	G	A	G177442224A	AGA	NM_000027.4(AGA):c.127+25C>T	noncoding	Benign
4	177442366	T	G	T177442366G	AGA	NM_000027.4(AGA):c.10A>C:p.Lys4Gln	coding	Benign
4	182346721	G	T	G182346721T	TENM3	NM_001080477.4(TENM3):c.303G>T:p.Ala101=	coding	Benign
4	182346733	C	T	C182346733T	TENM3	NM_001080477.4(TENM3):c.315C>T:p.Leu105=	coding	Benign
4	182600955	C	G	C182600955G	TENM3	NM_001080477.4(TENM3):c.543C>G:p.Thr181=	coding	Benign
4	182601033	C	T	C182601033T	TENM3	NM_001080477.4(TENM3):c.621C>T:p.Ser207=	coding	Benign
4	182628678	T	G	T182628678G	TENM3	NM_001080477.4(TENM3):c.777T>G:p.Gly259=	coding	Benign
4	182673090	T	C	T182673090C	TENM3	NM_001080477.4(TENM3):c.1197T>C:p.Pro399=	coding	Benign
4	182680268	C	T	C182680268T	TENM3	NM_001080477.4(TENM3):c.1558C>T:p.Arg520Ter	coding	Pathogenic
4	182680440	G	C	G182680440C	TENM3	NM_001080477.4(TENM3):c.1639+91G>C	noncoding	Benign
4	182680441	G	A	G182680441A	TENM3	NM_001080477.4(TENM3):c.1639+92G>A	noncoding	Benign
4	182680513	G	A	G182680513A	TENM3	NM_001080477.4(TENM3):c.1640-30G>A	noncoding	Benign
4	182680608	G	A	G182680608A	TENM3	NM_001080477.4(TENM3):c.1705G>A:p.Gly569Ser	coding	Benign
4	182680666	G	C	G182680666C	TENM3	NM_001080477.4(TENM3):c.1763G>C:p.Gly588Ala	coding	Benign
4	182680694	T	C	T182680694C	TENM3	NM_001080477.4(TENM3):c.1791T>C:p.Ser597=	coding	Benign
4	182680945	C	G	C182680945G	TENM3	NM_001080477.4(TENM3):c.1834+208C>G	noncoding	Benign
4	182681836	T	A	T182681836A	TENM3	NM_001080477.4(TENM3):c.1857T>A:p.Cys619Ter	coding	Pathogenic
4	182728947	G	A	G182728947A	TENM3	NM_001080477.4(TENM3):c.2369-18G>A	noncoding	Benign
4	182729910	G	C	G182729910C	TENM3	NM_001080477.4(TENM3):c.2586-290G>C	noncoding	Benign
4	182730953	T	C	T182730953C	TENM3	NM_001080477.4(TENM3):c.2781T>C:p.His927=	coding	Benign
4	182736806	A	T	A182736806T	TENM3	NM_001080477.4(TENM3):c.2968-2A>T	noncoding	Pathogenic
4	182743369	T	C	T182743369C	TENM3	NM_001080477.4(TENM3):c.3579T>C:p.Tyr1193=	coding	Benign
4	182743440	G	A	G182743440A	TENM3	NM_001080477.4(TENM3):c.3629+21G>A	noncoding	Benign
4	182751858	G	A	G182751858A	TENM3	NM_001080477.4(TENM3):c.3688G>A:p.Val1230Ile	coding	Benign
4	182753444	A	C	A182753444C	TENM3	NM_001080477.4(TENM3):c.3863-6A>C	noncoding	Benign
4	182753544	C	T	C182753544T	TENM3	NM_001080477.4(TENM3):c.3957C>T:p.Gly1319=	coding	Benign
4	182753792	G	T	G182753792T	TENM3	NM_001080477.4(TENM3):c.4017+188G>T	noncoding	Benign
4	182754074	T	C	T182754074C	TENM3	NM_001080477.4(TENM3):c.4018-311T>C	noncoding	Benign
4	182754465	A	G	A182754465G	TENM3	NM_001080477.4(TENM3):c.4098A>G:p.Leu1366=	coding	Benign
4	182754558	G	A	G182754558A	TENM3	NM_001080477.4(TENM3):c.4191G>A:p.Ala1397=	coding	Benign
4	182754916	A	G	A182754916G	TENM3	NM_001080477.4(TENM3):c.4549A>G:p.Thr1517Ala	coding	Benign
4	182755113	C	T	C182755113T	TENM3	NM_001080477.4(TENM3):c.4746C>T:p.Asn1582=	coding	Benign
4	182755176	G	A	G182755176A	TENM3	NM_001080477.4(TENM3):c.4809G>A:p.Leu1603=	coding	Benign
4	182773656	G	A	G182773656A	TENM3	NM_001080477.4(TENM3):c.5068+9G>A	noncoding	Benign
4	182773850	T	A	T182773850A	TENM3	NM_001080477.4(TENM3):c.5068+203T>A	noncoding	Benign
4	182774577	G	C	G182774577C	TENM3	NM_001080477.4(TENM3):c.5069-341G>C	noncoding	Benign
4	182775039	G	A	G182775039A	TENM3	NM_001080477.4(TENM3):c.5190G>A:p.Thr1730=	coding	Benign
4	182789179	G	A	G182789179A	TENM3	NM_001080477.4(TENM3):c.5391G>A:p.Leu1797=	coding	Benign
4	182792477	A	G	A182792477G	TENM3	NM_001080477.4(TENM3):c.5805A>G:p.Leu1935=	coding	Benign
4	182793489	C	T	C182793489T	TENM3	NM_001080477.4(TENM3):c.6817C>T:p.Leu2273=	coding	Benign
4	182793717	T	C	T182793717C	TENM3	NM_001080477.4(TENM3):c.7045T>C:p.Leu2349=	coding	Benign
4	182793866	C	T	C182793866T	TENM3	NM_001080477.4(TENM3):c.7194C>T:p.Asp2398=	coding	Benign
4	182794157	G	C	G182794157C	TENM3	NM_001080477.4(TENM3):c.7213+272G>C	noncoding	Benign
4	182796942	C	G	C182796942G	TENM3	NM_001080477.4(TENM3):c.7344+175C>G	noncoding	Benign
4	182799697	C	T	C182799697T	TENM3	NM_001080477.4(TENM3):c.7446C>T:p.Gly2482=	coding	Benign
4	182799954	G	A	G182799954A	TENM3	NM_001080477.4(TENM3):c.7703G>A:p.Arg2568His	coding	Benign
4	182894595	C	G	C182894595G	DCTD	NM_001921.2(DCTD):c.255G>C:p.Ala85=	coding	Benign
4	183261091	C	T	C183261091T	WWC2	NM_024949.6(WWC2):c.1468C>T:p.Leu490=	coding	Benign
4	183289446	A	G	A183289446G	WWC2	NM_024949.6(WWC2):c.3195A>G:p.Thr1065=	coding	Benign
4	183663862	G	A	G183663862A	TRAPPC11	NM_021942.6(TRAPPC11):c.-6G>A	noncoding	Benign
4	183663984	C	G	C183663984G	TRAPPC11	NM_021942.6(TRAPPC11):c.117C>G:p.Ala39=	coding	Benign
4	183664009	C	T	C183664009T	TRAPPC11	NM_021942.6(TRAPPC11):c.142C>T:p.Arg48Ter	coding	Pathogenic
4	183664012	G	C	G183664012C	TRAPPC11	NM_021942.6(TRAPPC11):c.145G>C:p.Val49Leu	coding	Benign
4	183666271	G	C	G183666271C	TRAPPC11	NM_021942.6(TRAPPC11):c.219G>C:p.Glu73Asp	coding	Benign/Likely_benign
4	183666322	G	C	G183666322C	TRAPPC11	NM_021942.6(TRAPPC11):c.270G>C:p.Leu90=	coding	Benign
4	183675163	G	T	G183675163T	TRAPPC11	NM_021942.6(TRAPPC11):c.661-1G>T	noncoding	Pathogenic
4	183675178	G	A	G183675178A	TRAPPC11	NM_021942.6(TRAPPC11):c.675G>A:p.Arg225=	coding	Benign
4	183679344	A	G	A183679344G	TRAPPC11	NM_021942.6(TRAPPC11):c.832-9A>G	noncoding	Benign
4	183679418	C	A	C183679418A	TRAPPC11	NM_021942.6(TRAPPC11):c.897C>A:p.Ile299=	coding	Benign
4	183679448	A	G	A183679448G	TRAPPC11	NM_021942.6(TRAPPC11):c.927A>G:p.Ala309=	coding	Benign
4	183682810	C	T	C183682810T	TRAPPC11	NM_021942.6(TRAPPC11):c.1192C>T:p.Arg398Ter	coding	Pathogenic/Likely_pathogenic
4	183684059	G	A	G183684059A	TRAPPC11	NM_021942.6(TRAPPC11):c.1287+5G>A	noncoding	Pathogenic/Likely_pathogenic
4	183684064	G	A	G183684064A	TRAPPC11	NM_021942.6(TRAPPC11):c.1287+10G>A	noncoding	Benign
4	183684693	G	A	G183684693A	TRAPPC11	NM_021942.6(TRAPPC11):c.1422-3G>A	noncoding	Benign
4	183684777	G	A	G183684777A	TRAPPC11	NM_021942.6(TRAPPC11):c.1503G>A:p.Lys501=	coding	Benign
4	183686751	A	G	A183686751G	TRAPPC11	NM_021942.6(TRAPPC11):c.1893+3A>G	noncoding	Pathogenic
4	183691400	G	C	G183691400C	TRAPPC11	NM_021942.6(TRAPPC11):c.1978G>C:p.Val660Leu	coding	Benign
4	183693721	C	T	C183693721T	TRAPPC11	NM_021942.6(TRAPPC11):c.2370C>T:p.Thr790=	coding	Benign
4	183693937	C	T	C183693937T	TRAPPC11	NM_021942.6(TRAPPC11):c.2407C>T:p.Gln803Ter	coding	Pathogenic
4	183693964	A	C	A183693964C	TRAPPC11	NM_021942.6(TRAPPC11):c.2434A>C:p.Thr812Pro	coding	Benign
4	183693991	G	A	G183693991A	TRAPPC11	NM_021942.6(TRAPPC11):c.2461G>A:p.Ala821Thr	coding	Benign/Likely_benign
4	183694013	T	C	T183694013C	TRAPPC11	NM_021942.6(TRAPPC11):c.2483T>C:p.Val828Ala	coding	Benign
4	183697783	G	C	G183697783C	TRAPPC11	NM_021942.6(TRAPPC11):c.2799G>C:p.Gln933His	coding	Benign
4	183701783	G	A	G183701783A	TRAPPC11	NM_021942.6(TRAPPC11):c.2938G>A:p.Gly980Arg	coding	Pathogenic
4	183705034	G	A	G183705034A	TRAPPC11	NM_021942.6(TRAPPC11):c.3019G>A:p.Val1007Met	coding	Benign/Likely_benign
4	183708410	C	T	C183708410T	TRAPPC11	NM_021942.6(TRAPPC11):c.3193C>T:p.Arg1065Ter	coding	Pathogenic
4	183708490	A	G	A183708490G	TRAPPC11	NM_021942.6(TRAPPC11):c.3273A>G:p.Pro1091=	coding	Benign/Likely_benign
4	183708527	A	G	A183708527G	TRAPPC11	NM_021942.6(TRAPPC11):c.3310A>G:p.Thr1104Ala	coding	Benign
4	183708546	G	A	G183708546A	TRAPPC11	NM_021942.6(TRAPPC11):c.3329G>A:p.Arg1110His	coding	Benign
4	184153545	C	T	C184153545T	ENPP6	NM_153343.4(ENPP6):c.421+9G>A	noncoding	Benign
4	184217607	C	T	C184217607T	ENPP6	NM_153343.4(ENPP6):c.213G>A:p.Ser71=	coding	Benign
4	184388899	G	A	G184388899A	IRF2	NM_002199.4(IRF2):c.909C>T:p.Ser303=	coding	Benign
4	184390739	C	T	C184390739T	IRF2	NM_002199.4(IRF2):c.705G>A:p.Thr235=	coding	Benign
4	184659403	A	G	A184659403G	PRIMPOL	NM_152683.4(PRIMPOL):c.244A>G:p.Thr82Ala	coding	Benign
4	184757686	G	A	G184757686A	ACSL1	NM_001995.4(ACSL1):c.1905C>T:p.Leu635=	coding	Benign
4	184763170	G	A	G184763170A	ACSL1	NM_001995.4(ACSL1):c.1518C>T:p.Gly506=	coding	Benign
4	184776613	T	C	T184776613C	ACSL1	NM_001995.4(ACSL1):c.627A>G:p.Leu209=	coding	Benign
4	185143265	C	T	C185143265T	SLC25A4	NM_001151.3(SLC25A4):c.-108C>T	noncoding	Benign
4	185143270	C	T	C185143270T	SLC25A4	NM_001151.4(SLC25A4):c.-103C>T	noncoding	Benign
4	185143289	C	A	C185143289A	SLC25A4	NM_001151.4(SLC25A4):c.-84C>A	noncoding	Benign
4	185143348	G	A	G185143348A	SLC25A4	NM_001151.4(SLC25A4):c.-25G>A	noncoding	Benign
4	185143484	G	A	G185143484A	SLC25A4	NM_001151.4(SLC25A4):c.111+1G>A	coding	Pathogenic
4	185143602	C	G	C185143602G	SLC25A4	NM_001151.4(SLC25A4):c.111+119C>G	noncoding	Benign
4	185144497	T	C	T185144497C	SLC25A4	NM_001151.4(SLC25A4):c.112-267T>C	noncoding	Benign
4	185144891	G	A	G185144891A	SLC25A4	NM_001151.4(SLC25A4):c.239G>A:p.Arg80His	coding	Pathogenic
4	185144945	T	C	T185144945C	SLC25A4	NM_001151.4(SLC25A4):c.293T>C:p.Leu98Pro	coding	Pathogenic
4	185144963	A	G	A185144963G	SLC25A4	NM_001151.4(SLC25A4):c.311A>G:p.Asp104Gly	coding	Pathogenic
4	185144992	G	C	G185144992C	SLC25A4	NM_001151.4(SLC25A4):c.340G>C:p.Ala114Pro	coding	Pathogenic
4	185145142	A	G	A185145142G	SLC25A4	NM_001151.4(SLC25A4):c.490A>G:p.Ile164Val	coding	Benign/Likely_benign
4	185145219	T	C	T185145219C	SLC25A4	NM_001151.4(SLC25A4):c.567T>C:p.Ala189=	coding	Benign
4	185145841	G	A	G185145841A	SLC25A4	NM_001151.4(SLC25A4):c.681G>A:p.Val227=	coding	Benign
4	185145863	C	G	C185145863G	SLC25A4	NM_001151.4(SLC25A4):c.703C>G:p.Arg235Gly	coding	Pathogenic
4	185145867	G	C	G185145867C	SLC25A4	NM_001151.4(SLC25A4):c.707G>C:p.Arg236Pro	coding	Pathogenic
4	185146521	A	G	A185146521G	SLC25A4	NM_001151.4(SLC25A4):c.740-293A>G	noncoding	Benign
4	185146830	G	A	G185146830A	SLC25A4	NM_001151.4(SLC25A4):c.756G>A:p.Thr252=	coding	Benign/Likely_benign
4	185146939	G	A	G185146939A	SLC25A4	NM_001151.4(SLC25A4):c.865G>A:p.Val289Met	coding	Pathogenic
4	185147248	C	T	C185147248T	SLC25A4	NM_001151.4(SLC25A4):c.*277C>T	noncoding	Benign
4	185147452	G	T	G185147452T	SLC25A4	NM_001151.4(SLC25A4):c.*481G>T	noncoding	Benign
4	185147468	T	G	T185147468G	SLC25A4	NM_001151.4(SLC25A4):c.*497T>G	noncoding	Benign
4	185147483	A	G	A185147483G	SLC25A4	NM_001151.4(SLC25A4):c.*512A>G	noncoding	Benign
4	185147844	G	A	G185147844A	SLC25A4	NM_001151.4(SLC25A4):c.*873G>A	noncoding	Benign
4	185147928	T	C	T185147928C	SLC25A4	NM_001151.4(SLC25A4):c.*957T>C	noncoding	Benign
4	185148024	T	C	T185148024C	SLC25A4	NM_001151.4(SLC25A4):c.*1053T>C	noncoding	Benign
4	185148117	T	C	T185148117C	SLC25A4	NM_001151.4(SLC25A4):c.*1146T>C	noncoding	Benign
4	185148216	T	A	T185148216A	SLC25A4	NM_001151.4(SLC25A4):c.*1245T>A	noncoding	Benign
4	185148763	C	A	C185148763A	SLC25A4	NM_001151.4(SLC25A4):c.*1792C>A	noncoding	Benign
4	185148956	T	C	T185148956C	SLC25A4	NM_001151.4(SLC25A4):c.*1985T>C	noncoding	Benign
4	185149021	A	G	A185149021G	SLC25A4	NM_001151.4(SLC25A4):c.*2050A>G	noncoding	Benign
4	185149278	T	C	T185149278C	SLC25A4	NM_001151.4(SLC25A4):c.*2307T>C	noncoding	Benign
4	185149437	C	A	C185149437A	SLC25A4	NM_001151.4(SLC25A4):c.*2466C>A	noncoding	Benign
4	185149447	G	A	G185149447A	SLC25A4	NM_001151.4(SLC25A4):c.*2476G>A	noncoding	Benign
4	185149500	C	T	C185149500T	SLC25A4	NM_001151.4(SLC25A4):c.*2529C>T	noncoding	Benign
4	185149914	G	A	G185149914A	SLC25A4	NM_001151.4(SLC25A4):c.*2943G>A	noncoding	Benign
4	185150041	C	T	C185150041T	SLC25A4	NM_001151.4(SLC25A4):c.*3070C>T	noncoding	Benign
4	185150081	G	C	G185150081C	SLC25A4	NM_001151.4(SLC25A4):c.*3110G>C	noncoding	Benign
4	185150085	C	A	C185150085A	SLC25A4	NM_001151.4(SLC25A4):c.*3114C>A	noncoding	Benign
4	185162901	G	A	G185162901A	CFAP97	NM_020827.3(CFAP97):c.1496C>T:p.Thr499Met	coding	Benign
4	185175945	G	A	G185175945A	CFAP97	NM_020827.3(CFAP97):c.1161C>T:p.Ile387=	coding	Benign
4	185175957	C	T	C185175957T	CFAP97	NM_020827.3(CFAP97):c.1149G>A:p.Glu383=	coding	Benign
4	185190858	G	A	G185190858A	CFAP97	NM_020827.3(CFAP97):c.339C>T:p.His113=	coding	Benign
4	185403521	A	G	A185403521G	UFSP2	NM_018359.5(UFSP2):c.1296T>C:p.Ala432=	coding	Benign
4	185403540	T	G	T185403540G	UFSP2	NM_018359.4(UFSP2):c.1277A>C:p.Asp426Ala	coding	Pathogenic
4	185408304	C	T	C185408304T	UFSP2	NM_018359.5(UFSP2):c.963G>A:p.Glu321=	coding	Benign
4	185408335	C	G	C185408335G	UFSP2	NM_018359.5(UFSP2):c.932G>C:p.Cys311Ser	coding	Benign
4	185408399	A	G	A185408399G	UFSP2	NM_018359.4(UFSP2):c.868T>C:p.Tyr290His	coding	Pathogenic
4	185413853	T	C	T185413853C	UFSP2	NM_018359.5(UFSP2):c.704A>G:p.Asn235Ser	coding	Benign
4	185418495	T	C	T185418495C	UFSP2	NM_018359.5(UFSP2):c.279A>G:p.Glu93=	coding	Benign
4	185418616	A	G	A185418616G	UFSP2	NM_018359.5(UFSP2):c.237T>C:p.Ser79=	coding	Benign
4	185418625	A	G	A185418625G	UFSP2	NM_018359.5(UFSP2):c.228T>C:p.Thr76=	coding	Benign
4	185502282	G	A	G185502282A	PDLIM3	NM_014476.5(PDLIM3):c.*12C>T	noncoding	Benign
4	185502396	G	T	G185502396T	PDLIM3	NM_014476.5(PDLIM3):c.993C>A:p.Gly331=	coding	Benign/Likely_benign
4	185502483	G	A	G185502483A	PDLIM3	NM_014476.5(PDLIM3):c.906C>T:p.Val302=	coding	Benign
4	185502501	G	A	G185502501A	PDLIM3	NM_014476.5(PDLIM3):c.906-18C>T	noncoding	Benign
4	185502523	G	A	G185502523A	PDLIM3	NM_014476.5(PDLIM3):c.906-40C>T	noncoding	Benign
4	185504417	A	G	A185504417G	PDLIM3	NM_014476.5(PDLIM3):c.905+58T>C	noncoding	Benign
4	185504531	G	A	G185504531A	PDLIM3	NM_014476.5(PDLIM3):c.849C>T:p.Gly283=	coding	Benign
4	185504549	C	T	C185504549T	PDLIM3	NM_014476.5(PDLIM3):c.831G>A:p.Pro277=	coding	Benign
4	185506581	G	A	G185506581A	PDLIM3	NM_014476.5(PDLIM3):c.734C>T:p.Thr245Ile	coding	Benign
4	185506619	G	A	G185506619A	PDLIM3	NM_014476.5(PDLIM3):c.696C>T:p.Asp232=	coding	Benign/Likely_benign
4	185506637	C	T	C185506637T	PDLIM3	NM_014476.5(PDLIM3):c.678G>A:p.Ser226=	coding	Benign
4	185506668	G	A	G185506668A	PDLIM3	NM_014476.5(PDLIM3):c.663-16C>T	noncoding	Benign
4	185506687	T	C	T185506687C	PDLIM3	NM_014476.5(PDLIM3):c.663-35A>G	noncoding	Benign
4	185506717	A	G	A185506717G	PDLIM3	NM_014476.5(PDLIM3):c.663-65T>C	noncoding	Benign
4	185508127	T	G	T185508127G	PDLIM3	NM_014476.5(PDLIM3):c.662+172A>C	noncoding	Benign
4	185508193	T	C	T185508193C	PDLIM3	NM_014476.5(PDLIM3):c.662+106A>G	noncoding	Benign
4	185508547	G	A	G185508547A	PDLIM3	NM_014476.6(PDLIM3):c.414C>T:p.Pro138=	coding	Benign
4	185508566	T	C	T185508566C	PDLIM3	NM_014476.6(PDLIM3):c.399-4A>G	noncoding	Benign
4	185508674	G	C	G185508674C	PDLIM3	NM_014476.5(PDLIM3):c.399-112C>G	noncoding	Benign
4	185508820	C	T	C185508820T	PDLIM3	NM_014476.5(PDLIM3):c.399-258G>A	noncoding	Benign
4	185508837	T	G	T185508837G	PDLIM3	NM_014476.5(PDLIM3):c.399-275A>C	noncoding	Benign
4	185514281	C	T	C185514281T	PDLIM3	NM_014476.5(PDLIM3):c.387G>A:p.Pro129=	coding	Benign
4	185514289	C	T	C185514289T	PDLIM3	NM_014476.5(PDLIM3):c.379G>A:p.Val127Met	coding	Benign
4	185514480	C	T	C185514480T	PDLIM3	NM_014476.5(PDLIM3):c.331-143G>A	noncoding	Benign
4	185514516	T	G	T185514516G	PDLIM3	NM_014476.5(PDLIM3):c.331-179A>C	noncoding	Benign
4	185514691	C	T	C185514691T	PDLIM3	NM_014476.5(PDLIM3):c.331-354G>A	noncoding	Benign
4	185523081	T	C	T185523081C	PDLIM3	NM_014476.5(PDLIM3):c.330+281A>G	noncoding	Benign
4	185523544	A	C	A185523544C	PDLIM3	NM_014476.5(PDLIM3):c.246-98T>G	noncoding	Benign
4	185525070	C	T	C185525070T	PDLIM3	NM_014476.5(PDLIM3):c.195G>A:p.Ala65=	coding	Benign/Likely_benign
4	185525103	G	A	G185525103A	PDLIM3	NM_014476.5(PDLIM3):c.162C>T:p.Gly54=	coding	Benign
4	185535375	G	T	G185535375T	PDLIM3	NM_014476.5(PDLIM3):c.60C>A:p.Gly20=	coding	Benign/Likely_benign
4	185535393	G	A	G185535393A	PDLIM3	NM_014476.5(PDLIM3):c.42C>T:p.Gly14=	coding	Benign
4	185535406	G	A	G185535406A	PDLIM3	NM_014476.5(PDLIM3):c.29C>T:p.Pro10Leu	coding	Benign/Likely_benign
4	185535702	C	T	C185535702T	PDLIM3	NM_014476.5(PDLIM3):c.-268G>A	noncoding	Benign
4	185623818	G	A	G185623818A	SORBS2	NM_021069.5(SORBS2):c.1599C>T:p.Pro533=	coding	Benign
4	185624192	A	T	A185624192T	SORBS2	NM_021069.5(SORBS2):c.1225T>A:p.Leu409Ile	coding	Benign
4	185626857	A	T	A185626857T	SORBS2	NM_021069.5(SORBS2):c.897T>A:p.Ser299=	coding	Benign
4	185649532	C	T	C185649532T	SORBS2	NM_021069.5(SORBS2):c.504G>A:p.Val168=	coding	Benign
4	185652663	C	T	C185652663T	SORBS2	NM_021069.5(SORBS2):c.333G>A:p.Pro111=	coding	Benign
4	186079010	G	A	G186079010A	TLR3	NM_003265.3(TLR3):c.612G>A:p.Leu204=	coding	Benign
4	186082310	C	A	C186082310A	TLR3	NM_003265.2(TLR3):c.634-10C>A	noncoding	Benign
4	186082413	T	C	T186082413C	TLR3	NM_003265.2(TLR3):c.727T>C:p.Leu243=	coding	Benign
4	186082524	G	A	G186082524A	TLR3	NM_003265.2(TLR3):c.838G>A:p.Asp280Asn	coding	Benign
4	186082605	T	G	T186082605G	TLR3	NM_003265.2(TLR3):c.919T>G:p.Tyr307Asp	coding	Benign
4	186082920	C	T	C186082920T	TLR3	NM_003265.3(TLR3):c.1234C>T:p.Leu412Phe	coding	Benign/Likely_benign
4	186082970	T	G	T186082970G	TLR3	NM_003265.3(TLR3):c.1284T>G:p.Ser428=	coding	Benign
4	186083063	C	T	C186083063T	TLR3	NM_003265.3(TLR3):c.1377C>T:p.Phe459=	coding	Benign
4	186083363	G	A	G186083363A	TLR3	NM_003265.2(TLR3):c.1677G>A:p.Lys559=	coding	Benign
4	186083369	G	A	G186083369A	TLR3	NM_003265.3(TLR3):c.1683G>A:p.Leu561=	coding	Benign
4	186083390	C	T	C186083390T	TLR3	NM_003265.2(TLR3):c.1704C>T:p.Asn568=	coding	Benign
4	186083613	C	A	C186083613A	TLR3	NM_003265.2(TLR3):c.1927C>A:p.Arg643Ser	coding	Benign
4	186083895	T	A	T186083895A	TLR3	NM_003265.2(TLR3):c.2209T>A:p.Ser737Thr	coding	Benign
4	186083903	T	C	T186083903C	TLR3	NM_003265.3(TLR3):c.2217T>C:p.His739=	coding	Benign
4	186084711	C	T	C186084711T	TLR3	NM_003265.2(TLR3):c.2553C>T:p.Phe851=	coding	Benign
4	186084714	T	G	T186084714G	TLR3	NM_003265.2(TLR3):c.2556T>G:p.Leu852=	coding	Benign
4	186084822	C	T	C186084822T	TLR3	NM_003265.3(TLR3):c.2664C>T:p.Ala888=	coding	Benign
4	186191528	A	C	A186191528C	CYP4V2	NM_207352.3(CYP4V2):c.-296A>C	noncoding	Benign
4	186191672	A	G	A186191672G	CYP4V2	NM_207352.4(CYP4V2):c.-152A>G	noncoding	Benign
4	186191678	C	T	C186191678T	CYP4V2	NM_207352.4(CYP4V2):c.-146C>T	noncoding	Benign
4	186191696	A	G	A186191696G	CYP4V2	NM_207352.4(CYP4V2):c.-128A>G	noncoding	Benign/Likely_benign
4	186191887	C	G	C186191887G	CYP4V2	NM_207352.4(CYP4V2):c.64C>G:p.Leu22Val	coding	Benign
4	186191943	C	G	C186191943G	CYP4V2	NM_207352.4(CYP4V2):c.120C>G:p.Tyr40Ter	coding	Pathogenic
4	186192004	G	A	G186192004A	CYP4V2	NM_207352.4(CYP4V2):c.181G>A:p.Gly61Ser	coding	Pathogenic
4	186194538	C	T	C186194538T	CYP4V2	NM_207352.4(CYP4V2):c.253C>T:p.Arg85Cys	coding	Pathogenic
4	186194568	G	A	G186194568A	CYP4V2	NM_207352.4(CYP4V2):c.283G>A:p.Gly95Arg	coding	Pathogenic
4	186194613	G	A	G186194613A	CYP4V2	NM_207352.4(CYP4V2):c.327+1G>A	coding	Pathogenic
4	186194623	G	C	G186194623C	CYP4V2	NM_207352.4(CYP4V2):c.327+11G>C	noncoding	Benign/Likely_benign
4	186196007	T	C	T186196007C	CYP4V2	NM_207352.4(CYP4V2):c.332T>C:p.Ile111Thr	coding	Pathogenic
4	186196010	T	G	T186196010G	CYP4V2	NM_207352.4(CYP4V2):c.335T>G:p.Leu112Ter	coding	Pathogenic
4	186196075	G	T	G186196075T	CYP4V2	NM_207352.4(CYP4V2):c.400G>T:p.Gly134Ter	coding	Pathogenic
4	186197044	T	G	T186197044G	CYP4V2	NM_207352.4(CYP4V2):c.518T>G:p.Leu173Trp	coding	Pathogenic
4	186197081	A	T	A186197081T	CYP4V2	NM_207352.4(CYP4V2):c.555A>T:p.Ala185=	coding	Benign
4	186197566	G	A	G186197566A	CYP4V2	NM_207352.4(CYP4V2):c.638G>A:p.Ser213Asn	coding	Benign/Likely_benign
4	186197583	T	C	T186197583C	CYP4V2	NM_207352.4(CYP4V2):c.655T>C:p.Tyr219His	coding	Pathogenic
4	186198976	C	T	C186198976T	CYP4V2	NM_207352.4(CYP4V2):c.694C>T:p.Arg232Ter	coding	Pathogenic
4	186199043	A	G	A186199043G	CYP4V2	NM_207352.4(CYP4V2):c.761A>G:p.His254Arg	coding	Pathogenic
4	186199057	C	A	C186199057A	CYP4V2	NM_207352.4(CYP4V2):c.775C>A:p.Gln259Lys	coding	Benign
4	186201149	T	G	T186201149G	CYP4V2	NM_207352.4(CYP4V2):c.802-8T>G	noncoding	Pathogenic
4	186201150	C	T	C186201150T	CYP4V2	NM_207352.4(CYP4V2):c.802-7C>T	noncoding	Benign
4	186201165	T	G	T186201165G	CYP4V2	NM_207352.4(CYP4V2):c.810T>G:p.Ala270=	coding	Benign
4	186201178	G	A	G186201178A	CYP4V2	NM_207352.4(CYP4V2):c.823G>A:p.Glu275Lys	coding	Benign/Likely_benign
4	186201201	T	C	T186201201C	CYP4V2	NM_207352.4(CYP4V2):c.846T>C:p.Cys282=	coding	Benign
4	186201283	G	T	G186201283T	CYP4V2	NM_207352.4(CYP4V2):c.928G>T:p.Glu310Ter	coding	Pathogenic
4	186201313	C	T	C186201313T	CYP4V2	NM_207352.4(CYP4V2):c.958C>T:p.Arg320Ter	coding	Pathogenic
4	186201326	A	T	A186201326T	CYP4V2	NM_207352.4(CYP4V2):c.971A>T:p.Asp324Val	coding	Pathogenic
4	186201329	C	T	C186201329T	CYP4V2	NM_207352.4(CYP4V2):c.974C>T:p.Thr325Ile	coding	Pathogenic
4	186205204	A	C	A186205204C	CYP4V2	NM_207352.4(CYP4V2):c.992A>C:p.His331Pro	coding	Pathogenic
4	186205232	G	A	G186205232A	CYP4V2	NM_207352.4(CYP4V2):c.1020G>A:p.Trp340Ter	coding	Pathogenic
4	186205233	T	C	T186205233C	CYP4V2	NM_207352.4(CYP4V2):c.1021T>C:p.Ser341Pro	coding	Pathogenic
4	186205295	C	T	C186205295T	CYP4V2	NM_207352.4(CYP4V2):c.1083C>T:p.Asp361=	coding	Benign
4	186208861	T	A	T186208861A	CYP4V2	NM_207352.4(CYP4V2):c.1091-4T>A	noncoding	Benign/Likely_benign
4	186208863	A	G	A186208863G	CYP4V2	NM_207352.4(CYP4V2):c.1091-2A>G	noncoding	Pathogenic
4	186208888	G	A	G186208888A	CYP4V2	NM_207352.4(CYP4V2):c.1114G>A:p.Val372Ile	coding	Benign
4	186208931	A	C	A186208931C	CYP4V2	NM_207352.4(CYP4V2):c.1157A>C:p.Lys386Thr	coding	Pathogenic
4	186208943	G	A	G186208943A	CYP4V2	NM_207352.4(CYP4V2):c.1169G>A:p.Arg390His	coding	Pathogenic
4	186208961	C	T	C186208961T	CYP4V2	NM_207352.4(CYP4V2):c.1187C>T:p.Pro396Leu	coding	Pathogenic
4	186209215	C	T	C186209215T	CYP4V2	NM_207352.4(CYP4V2):c.1348C>T:p.Gln450Ter	coding	Pathogenic
4	186209260	A	G	A186209260G	CYP4V2	NM_207352.4(CYP4V2):c.1393A>G:p.Arg465Gly	coding	Pathogenic
4	186209263	A	G	A186209263G	CYP4V2	NM_207352.4(CYP4V2):c.1396A>G:p.Asn466Asp	coding	Pathogenic
4	186210508	C	A	C186210508A	CYP4V2	NM_207352.4(CYP4V2):c.1445C>A:p.Ser482Ter	coding	Pathogenic
4	186210589	C	T	C186210589T	CYP4V2	NM_207352.4(CYP4V2):c.1526C>T:p.Pro509Leu	coding	Pathogenic
4	186210599	C	T	C186210599T	CYP4V2	NM_207352.4(CYP4V2):c.1536C>T:p.Gly512=	coding	Benign/Likely_benign
4	186211789	A	G	A186211789G	CYP4V2	NM_207352.4(CYP4V2):c.*1148A>G	noncoding	Benign
4	186211877	A	T	A186211877T	CYP4V2	NM_207352.4(CYP4V2):c.*1236A>T	noncoding	Benign
4	186212422	A	C	A186212422C	CYP4V2	NM_207352.4(CYP4V2):c.*1781A>C	noncoding	Benign
4	186212747	G	T	G186212747T	CYP4V2	NM_207352.4(CYP4V2):c.*2106G>T	noncoding	Benign/Likely_benign
4	186212944	G	C	G186212944C	CYP4V2	NM_207352.4(CYP4V2):c.*2303G>C	noncoding	Benign/Likely_benign
4	186213040	C	T	C186213040T	CYP4V2	NM_207352.4(CYP4V2):c.*2399C>T	noncoding	Benign
4	186236789	C	T	C186236789T	KLKB1	NM_000892.5(KLKB1):c.337C>T:p.Arg113Ter	coding	Pathogenic
4	186236819	G	A	G186236819A	KLKB1	NM_000892.5(KLKB1):c.367G>A:p.Gly123Arg	coding	Pathogenic
4	186238251	T	C	T186238251C	KLKB1	NM_000892.5(KLKB1):c.489-5T>C	noncoding	Benign
4	186238286	A	G	A186238286G	KLKB1	NM_000892.5(KLKB1):c.519A>G:p.Gly173=	coding	Benign
4	186250251	A	G	A186250251G	KLKB1	NM_000892.5(KLKB1):c.607A>G:p.Met203Val	coding	Benign
4	186251268	A	G	A186251268G	KLKB1	NM_000892.5(KLKB1):c.808A>G:p.Thr270Ala	coding	Benign
4	186251549	T	G	T186251549G	KLKB1	NM_000892.5(KLKB1):c.931T>G:p.Phe311Val	coding	Benign
4	186251789	A	G	A186251789G	KLKB1	NM_000892.5(KLKB1):c.1072A>G:p.Thr358Ala	coding	Benign
4	186252077	G	A	G186252077A	KLKB1	NM_000892.5(KLKB1):c.1205G>A:p.Trp402Ter	coding	Pathogenic
4	186265981	C	G	C186265981G	F11	NM_000128.3(F11):c.-316C>G	noncoding	Benign
4	186271620	C	T	C186271620T	F11	NM_000128.3(F11):c.67C>T:p.Gln23Ter	coding	Pathogenic/Likely_pathogenic
4	186274115	G	A	G186274115A	F11	NM_000128.3(F11):c.326-1G>A	noncoding	Pathogenic
4	186274155	G	A	G186274155A	F11	NM_000128.3(F11):c.365G>A:p.Gly122Asp	coding	Pathogenic
4	186274193	G	T	G186274193T	F11	NM_000128.3(F11):c.403G>T:p.Glu135Ter	coding	Pathogenic
4	186274198	C	A	C186274198A	F11	NM_000128.3(F11):c.408C>A:p.Cys136Ter	coding	Pathogenic/Likely_pathogenic
4	186274219	C	T	C186274219T	F11	NM_000128.3(F11):c.429C>T:p.Asp143=	coding	Benign
4	186274228	C	A	C186274228A	F11	NM_000128.3(F11):c.438C>A:p.Cys146Ter	coding	Pathogenic/Likely_pathogenic
4	186274243	C	T	C186274243T	F11	NM_000128.4(F11):c.453C>T:p.Tyr151=	coding	Benign/Likely_benign
4	186274280	G	C	G186274280C	F11	NM_000128.4(F11):c.485+5G>C	noncoding	Pathogenic
4	186275840	A	G	A186275840G	F11	NM_000128.4(F11):c.539A>G:p.Lys180Arg	coding	Benign
4	186276298	C	T	C186276298T	F11	NM_000128.4(F11):c.663C>T:p.Pro221=	coding	Benign
4	186276365	C	T	C186276365T	F11	NM_000128.3(F11):c.730C>T:p.Gln244Ter	coding	Pathogenic/Likely_pathogenic
4	186276392	T	C	T186276392C	F11	NM_000128.3(F11):c.755+2T>C	noncoding	Pathogenic/Likely_pathogenic
4	186280057	A	G	A186280057G	F11	NM_000128.3(F11):c.801A>G:p.Thr267=	coding	Benign
4	186280058	C	T	C186280058T	F11	NM_000128.3(F11):c.802C>T:p.Arg268Cys	coding	Pathogenic
4	186280097	C	T	C186280097T	F11	NM_000128.3(F11):c.841C>T:p.Gln281Ter	coding	Pathogenic
4	186280258	T	C	T186280258C	F11	NM_000128.3(F11):c.901T>C:p.Phe301Leu	coding	Pathogenic/Likely_pathogenic
4	186280373	G	T	G186280373T	F11	NM_000128.3(F11):c.1016G>T:p.Cys339Phe	coding	Benign/Likely_benign
4	186280472	A	G	A186280472G	F11	NM_000128.4(F11):c.1029-2A>G	noncoding	Pathogenic
4	186280552	C	A	C186280552A	F11	NM_000128.3(F11):c.1107C>A:p.Tyr369Ter	coding	Pathogenic/Likely_pathogenic
4	186284147	T	C	T186284147C	F11	NM_000128.3(F11):c.1191T>C:p.Gly397=	coding	Benign
4	186284167	C	A	C186284167A	F11	NM_000128.3(F11):c.1211C>A:p.Thr404Asn	coding	Pathogenic
4	186284190	C	T	C186284190T	F11	NM_000128.3(F11):c.1234C>T:p.Gln412Ter	coding	Pathogenic/Likely_pathogenic
4	186284203	G	A	G186284203A	F11	NM_000128.3(F11):c.1247G>A:p.Cys416Tyr	coding	Pathogenic/Likely_pathogenic
4	186284244	G	A	G186284244A	F11	NM_000128.3(F11):c.1288G>A:p.Ala430Thr	coding	Pathogenic
4	186284245	C	T	C186284245T	F11	NM_000128.3(F11):c.1289C>T:p.Ala430Val	coding	Pathogenic
4	186285711	T	G	T186285711G	F11	NM_000128.3(F11):c.1378T>G:p.Phe460Val	coding	Pathogenic
4	186285765	G	A	G186285765A	F11	NM_000128.3(F11):c.1432G>A:p.Gly478Arg	coding	Pathogenic/Likely_pathogenic
4	186286227	C	T	C186286227T	F11	NM_000128.4(F11):c.1481-188C>T	coding	Benign
4	186286423	C	T	C186286423T	F11	NM_000128.3(F11):c.1489C>T:p.Arg497Ter	coding	Pathogenic/Likely_pathogenic
4	186286490	G	A	G186286490A	F11	NM_000128.3(F11):c.1556G>A:p.Trp519Ter	coding	Pathogenic/Likely_pathogenic
4	186287814	C	T	C186287814T	F11	NM_000128.3(F11):c.1707C>T:p.Asp569=	coding	Benign
4	186287824	G	A	G186287824A	F11	NM_000128.3(F11):c.1716+1G>A	coding	Pathogenic
4	186288496	G	C	G186288496C	F11	NM_000128.3(F11):c.1760G>C:p.Trp587Ser	coding	Pathogenic
4	186288518	C	A	C186288518A	F11	NM_000128.3(F11):c.1782C>A:p.Ser594Arg	coding	Pathogenic
4	186288548	G	T	G186288548T	F11	NM_000128.3(F11):c.1812G>T:p.Arg604=	coding	Benign
4	186288558	T	C	T186288558C	F11	NM_000128.3(F11):c.1822T>C:p.Tyr608His	coding	Pathogenic
4	186288575	G	A	G186288575A	F11	NM_000128.3(F11):c.1839G>A:p.Glu613=	coding	Benign
4	186288615	A	G	A186288615G	F11	NM_000128.4(F11):c.*1A>G	coding	Benign
4	186288789	C	T	C186288789T	F11	NM_000128.4(F11):c.*175C>T	noncoding	Benign
4	186288800	C	T	C186288800T	F11	NM_000128.4(F11):c.*186C>T	noncoding	Benign
4	186288879	A	G	A186288879G	F11	NM_000128.3(F11):c.*265A>G	noncoding	Benign
4	186288910	G	C	G186288910C	F11	NM_000128.3(F11):c.*296G>C	noncoding	Benign
4	186288936	G	A	G186288936A	F11	NM_000128.3(F11):c.*322G>A	noncoding	Benign
4	186289093	A	T	A186289093T	F11	NM_000128.3(F11):c.*479A>T	noncoding	Benign
4	186289466	G	A	G186289466A	F11	NM_000128.3(F11):c.*852G>A	noncoding	Benign
4	186289499	G	A	G186289499A	F11	NM_000128.3(F11):c.*885G>A	noncoding	Benign
4	186534107	A	G	A186534107G	MTNR1A	NM_005958.4(MTNR1A):c.635T>C:p.Ile212Thr	coding	Benign
4	186534272	G	A	G186534272A	MTNR1A	NM_005958.4(MTNR1A):c.470C>T:p.Ala157Val	coding	Benign
4	186588632	G	A	G186588632A	FAT1	NM_005245.4(FAT1):c.13727C>T:p.Thr4576Met	coding	Benign
4	186588707	G	C	G186588707C	FAT1	NM_005245.4(FAT1):c.13652C>G:p.Ala4551Gly	coding	Benign
4	186588777	C	T	C186588777T	FAT1	NM_005245.4(FAT1):c.13582G>A:p.Glu4528Lys	coding	Benign
4	186589000	G	A	G186589000A	FAT1	NM_005245.4(FAT1):c.13359C>T:p.Pro4453=	coding	Benign
4	186596631	G	A	G186596631A	FAT1	NM_005245.4(FAT1):c.12909C>T:p.Ser4303=	coding	Benign
4	186596973	A	G	A186596973G	FAT1	NM_005245.4(FAT1):c.12567T>C:p.Val4189=	coding	Benign
4	186597018	C	T	C186597018T	FAT1	NM_005245.4(FAT1):c.12522G>A:p.Pro4174=	coding	Benign
4	186597042	C	T	C186597042T	FAT1	NM_005245.4(FAT1):c.12498G>A:p.Ala4166=	coding	Benign
4	186597720	G	A	G186597720A	FAT1	NM_005245.4(FAT1):c.12330C>T:p.Gly4110=	coding	Benign
4	186597962	A	T	A186597962T	FAT1	NM_005245.4(FAT1):c.12257+10T>A	noncoding	Benign
4	186598043	G	C	G186598043C	FAT1	NM_005245.4(FAT1):c.12186C>G:p.Leu4062=	coding	Benign
4	186599965	C	T	C186599965T	FAT1	NM_005245.4(FAT1):c.12036G>A:p.Thr4012=	coding	Benign
4	186601317	C	A	C186601317A	FAT1	NM_005245.4(FAT1):c.11592G>T:p.Thr3864=	coding	Benign
4	186603309	C	T	C186603309T	FAT1	NM_005245.4(FAT1):c.11217G>A:p.Ala3739=	coding	Benign
4	186603769	A	G	A186603769G	FAT1	NM_005245.4(FAT1):c.10757T>C:p.Met3586Thr	coding	Benign
4	186603894	C	T	C186603894T	FAT1	NM_005245.4(FAT1):c.10632G>A:p.Ala3544=	coding	Benign
4	186604438	A	G	A186604438G	FAT1	NM_005245.4(FAT1):c.10487T>C:p.Val3496Ala	coding	Benign
4	186606160	T	C	T186606160C	FAT1	NM_005245.4(FAT1):c.10260A>G:p.Arg3420=	coding	Benign
4	186609195	G	A	G186609195A	FAT1	NM_005245.4(FAT1):c.10194C>T:p.Leu3398=	coding	Benign
4	186609248	T	C	T186609248C	FAT1	NM_005245.4(FAT1):c.10141A>G:p.Ser3381Gly	coding	Benign
4	186609968	A	G	A186609968G	FAT1	NM_005245.4(FAT1):c.9901T>C:p.Tyr3301His	coding	Benign
4	186613099	C	T	C186613099T	FAT1	NM_005245.4(FAT1):c.9463+10G>A	noncoding	Benign
4	186618886	C	T	C186618886T	FAT1	NM_005245.4(FAT1):c.7700G>A:p.Arg2567His	coding	Benign
4	186618888	G	A	G186618888A	FAT1	NM_005245.4(FAT1):c.7698C>T:p.Val2566=	coding	Benign
4	186618996	A	G	A186618996G	FAT1	NM_005245.4(FAT1):c.7590T>C:p.His2530=	coding	Benign
4	186619529	A	C	A186619529C	FAT1	NM_005245.4(FAT1):c.7057T>G:p.Ser2353Ala	coding	Benign
4	186620532	G	T	G186620532T	FAT1	NM_005245.4(FAT1):c.6054C>A:p.Asn2018Lys	coding	Benign
4	186621202	C	T	C186621202T	FAT1	NM_005245.4(FAT1):c.5384G>A:p.Arg1795Gln	coding	Benign
4	186621745	G	A	G186621745A	FAT1	NM_005245.4(FAT1):c.4841C>T:p.Pro1614Leu	coding	Benign
4	186621768	A	G	A186621768G	FAT1	NM_005245.4(FAT1):c.4818T>C:p.Ile1606=	coding	Benign
4	186621773	T	C	T186621773C	FAT1	NM_005245.4(FAT1):c.4813A>G:p.Asn1605Asp	coding	Benign
4	186628210	G	A	G186628210A	FAT1	NM_005245.4(FAT1):c.4754C>T:p.Thr1585Met	coding	Benign
4	186628275	G	A	G186628275A	FAT1	NM_005245.4(FAT1):c.4689C>T:p.Thr1563=	coding	Benign
4	186636683	C	T	C186636683T	FAT1	NM_005245.4(FAT1):c.3874G>A:p.Glu1292Lys	coding	Benign
4	186636754	C	T	C186636754T	FAT1	NM_005245.4(FAT1):c.3803G>A:p.Arg1268Gln	coding	Benign
4	186636801	G	A	G186636801A	FAT1	NM_005245.4(FAT1):c.3756C>T:p.Ile1252=	coding	Benign
4	186639767	C	T	C186639767T	FAT1	NM_005245.4(FAT1):c.3597G>A:p.Thr1199=	coding	Benign
4	186663376	G	A	G186663376A	FAT1	NM_005245.4(FAT1):c.3503C>T:p.Ser1168Leu	coding	Benign
4	186706984	C	T	C186706984T	FAT1	NM_005245.4(FAT1):c.2844G>A:p.Trp948Ter	coding	Pathogenic
4	186707592	T	C	T186707592C	FAT1	NM_005245.4(FAT1):c.2236A>G:p.Thr746Ala	coding	Benign
4	186707665	C	T	C186707665T	FAT1	NM_005245.4(FAT1):c.2163G>A:p.Pro721=	coding	Benign
4	186707793	C	T	C186707793T	FAT1	NM_005245.4(FAT1):c.2035G>A:p.Val679Ile	coding	Benign
4	186708682	G	T	G186708682T	FAT1	NM_005245.4(FAT1):c.1146C>A:p.Pro382=	coding	Benign
4	186709087	G	A	G186709087A	FAT1	NM_005245.4(FAT1):c.741C>T:p.Ile247=	coding	Benign
4	186709666	C	T	C186709666T	FAT1	NM_005245.4(FAT1):c.162G>A:p.Gly54=	coding	Benign
4	188003581	G	A	G188003581A	ZFP42	NM_174900.5(ZFP42):c.774G>A:p.Leu258=	coding	Benign
4	188091588	A	G	A188091588G	TRIML2	NM_001303419.1(TRIML2):c.1174T>C:p.Leu392=	coding	Benign
4	188097128	G	A	G188097128A	TRIML2	NM_001303419.1(TRIML2):c.753C>T:p.Pro251=	coding	Benign
4	188099106	C	T	C188099106T	TRIML2	NM_001303419.1(TRIML2):c.550G>A:p.Val184Ile	coding	Benign
5	173077	G	A	G173077A	PLEKHG4B	NM_052909.5(PLEKHG4B):c.4221+10G>A	noncoding	Benign
5	218352	A	G	A218352G	SDHA	NM_004168.4(SDHA):c.-4A>G	noncoding	Benign/Likely_benign
5	218356	A	C	A218356C	SDHA	NM_004168.4(SDHA):c.1A>C:p.Met1Leu	coding	Pathogenic
5	218356	A	G	A218356G	SDHA	NM_004168.4(SDHA):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
5	218356	A	T	A218356T	SDHA	NM_004168.4(SDHA):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
5	218357	T	C	T218357C	SDHA	NM_004168.4(SDHA):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
5	218357	T	G	T218357G	SDHA	NM_004168.4(SDHA):c.2T>G:p.Met1Arg	coding	Pathogenic
5	218360	C	A	C218360A	SDHA	NM_004168.4(SDHA):c.5C>A:p.Ser2Ter	coding	Pathogenic
5	223480	A	G	A223480G	SDHA	NM_004168.4(SDHA):c.64-2A>G	noncoding	Pathogenic
5	223509	C	T	C223509T	SDHA	NM_004168.4(SDHA):c.91C>T:p.Arg31Ter	coding	Pathogenic
5	223531	A	T	A223531T	SDHA	NM_004168.4(SDHA):c.113A>T:p.Asp38Val	coding	Benign/Likely_benign
5	223564	A	G	A223564G	SDHA	NM_004168.4(SDHA):c.146A>G:p.Asp49Gly	coding	Benign/Likely_benign
5	224369	C	T	C224369T	SDHA	NM_004168.4(SDHA):c.160C>T:p.Gln54Ter	coding	Pathogenic
5	224372	T	C	T224372C	SDHA	NM_004168.4(SDHA):c.163T>C:p.Tyr55His	coding	Benign/Likely_benign
5	224390	G	T	G224390T	SDHA	NM_004168.4(SDHA):c.181G>T:p.Glu61Ter	coding	Pathogenic
5	224432	C	T	C224432T	SDHA	NM_004168.4(SDHA):c.223C>T:p.Arg75Ter	coding	Pathogenic
5	224476	T	A	T224476A	SDHA	NM_004168.4(SDHA):c.267T>A:p.Cys89Ter	coding	Pathogenic
5	224518	A	G	A224518G	SDHA	NM_004168.4(SDHA):c.309A>G:p.Ala103=	coding	Benign
5	224519	C	T	C224519T	SDHA	NM_004168.4(SDHA):c.310C>T:p.Gln104Ter	coding	Pathogenic
5	225462	G	A	G225462A	SDHA	NM_004168.4(SDHA):c.356G>A:p.Trp119Ter	coding	Pathogenic
5	225582	G	C	G225582C	SDHA	NM_004168.4(SDHA):c.456+20G>C	noncoding	Benign
5	225594	G	A	G225594A	SDHA	NM_004168.4(SDHA):c.456+32G>A	noncoding	Benign
5	225894	T	G	T225894G	SDHA	NM_004168.4(SDHA):c.468T>G:p.Tyr156Ter	coding	Pathogenic
5	225910	A	T	A225910T	SDHA	NM_004168.4(SDHA):c.484A>T:p.Arg162Ter	coding	Pathogenic
5	225934	C	T	C225934T	SDHA	NM_004168.4(SDHA):c.508C>T:p.Gln170Ter	coding	Pathogenic
5	225976	G	A	G225976A	SDHA	NM_004168.4(SDHA):c.550G>A:p.Gly184Arg	coding	Benign/Likely_benign
5	225979	C	T	C225979T	SDHA	NM_004168.4(SDHA):c.553C>T:p.Gln185Ter	coding	Pathogenic
5	226041	T	A	T226041A	SDHA	NM_004168.4(SDHA):c.615T>A:p.Tyr205Ter	coding	Pathogenic
5	226045	A	C	A226045C	SDHA	NM_004168.4(SDHA):c.619A>C:p.Arg207=	coding	Benign
5	228191	C	T	C228191T	SDHA	NM_004168.4(SDHA):c.628C>T:p.Arg210Ter	coding	Pathogenic
5	228247	T	C	T228247C	SDHA	NM_004168.4(SDHA):c.684T>C:p.Asn228=	coding	Benign
5	230865	A	G	A230865G	SDHA	NM_004168.4(SDHA):c.771-11A>G	noncoding	Benign
5	230985	C	T	C230985T	SDHA	NM_004168.4(SDHA):c.880C>T:p.Gln294Ter	coding	Pathogenic
5	230996	T	C	T230996C	SDHA	NM_004168.4(SDHA):c.891T>C:p.Pro297=	coding	Benign
5	231028	T	C	T231028C	SDHA	NM_004168.4(SDHA):c.895+28T>C	noncoding	Benign
5	233445	G	A	G233445A	SDHA	NM_004168.4(SDHA):c.896-32G>A	noncoding	Benign
5	233457	A	G	A233457G	SDHA	NM_004168.4(SDHA):c.896-20A>G	noncoding	Benign
5	233566	C	T	C233566T	SDHA	NM_004168.4(SDHA):c.985C>T:p.Arg329Ter	coding	Pathogenic
5	233619	C	G	C233619G	SDHA	NM_004168.4(SDHA):c.1038C>G:p.Ser346=	coding	Benign
5	233635	C	T	C233635T	SDHA	NM_004168.4(SDHA):c.1054C>T:p.Arg352Ter	coding	Pathogenic
5	235168	C	T	C235168T	SDHA	NM_004168.4(SDHA):c.1089C>T:p.His363=	coding	Benign/Likely_benign
5	235202	C	T	C235202T	SDHA	NM_004168.4(SDHA):c.1123C>T:p.Gln375Ter	coding	Pathogenic
5	235230	C	G	C235230G	SDHA	NM_004168.4(SDHA):c.1151C>G:p.Ser384Ter	coding	Pathogenic
5	235249	C	T	C235249T	SDHA	NM_004168.4(SDHA):c.1170C>T:p.Phe390=	coding	Benign
5	235337	C	T	C235337T	SDHA	NM_004168.4(SDHA):c.1258C>T:p.Gln420Ter	coding	Pathogenic
5	236534	C	T	C236534T	SDHA	NM_004168.4(SDHA):c.1367C>T:p.Ser456Leu	coding	Benign
5	236563	G	A	G236563A	SDHA	NM_004168.4(SDHA):c.1396G>A:p.Ala466Thr	coding	Benign
5	236638	C	T	C236638T	SDHA	NM_004168.4(SDHA):c.1432+39C>T	noncoding	Benign
5	240393	G	T	G240393T	SDHA	NM_004168.4(SDHA):c.1468G>T:p.Glu490Ter	coding	Pathogenic
5	240448	C	T	C240448T	SDHA	NM_004168.4(SDHA):c.1523C>T:p.Thr508Ile	coding	Benign/Likely_benign
5	240459	C	T	C240459T	SDHA	NM_004168.4(SDHA):c.1534C>T:p.Arg512Ter	coding	Pathogenic/Likely_pathogenic
5	251009	T	C	T251009C	SDHA	NM_004168.4(SDHA):c.1569T>C:p.Ala523=	coding	Benign/Likely_benign
5	251069	T	G	T251069G	SDHA	NM_004168.4(SDHA):c.1629T>G:p.Tyr543Ter	coding	Pathogenic
5	251104	G	T	G251104T	SDHA	NM_004168.4(SDHA):c.1663+1G>T	coding	Pathogenic/Likely_pathogenic
5	251304	C	T	C251304T	SDHA	NM_004168.4(SDHA):c.1664-34C>T	noncoding	Benign
5	251330	G	A	G251330A	SDHA	NM_004168.4(SDHA):c.1664-8G>A	noncoding	Benign/Likely_benign
5	251338	G	A	G251338A	SDHA	NM_004168.4(SDHA):c.1664G>A:p.Gly555Glu	coding	Pathogenic
5	251354	G	A	G251354A	SDHA	NM_004168.4(SDHA):c.1680G>A:p.Thr560=	coding	Benign/Likely_benign
5	251426	A	G	A251426G	SDHA	NM_004168.4(SDHA):c.1752A>G:p.Ala584=	coding	Benign
5	251439	C	T	C251439T	SDHA	NM_004168.4(SDHA):c.1765C>T:p.Arg589Trp	coding	Pathogenic/Likely_pathogenic
5	251450	T	C	T251450C	SDHA	NM_004168.4(SDHA):c.1776T>C:p.His592=	coding	Benign/Likely_benign
5	254392	G	T	G254392T	SDHA	NM_004168.4(SDHA):c.1795-1G>T	noncoding	Pathogenic/Likely_pathogenic
5	254484	A	T	A254484T	SDHA	NM_004168.4(SDHA):c.1886A>T:p.Tyr629Phe	coding	Benign/Likely_benign
5	254521	C	T	C254521T	SDHA	NM_004168.4(SDHA):c.1908+15C>T	noncoding	Benign/Likely_benign
5	254591	G	A	G254591A	SDHA	NM_004168.4(SDHA):c.1908+85G>A	noncoding	Benign
5	254596	A	G	A254596G	SDHA	NM_004168.4(SDHA):c.1908+90A>G	noncoding	Benign
5	256336	C	T	C256336T	SDHA	NM_004168.4(SDHA):c.1911C>T:p.Val637=	coding	Benign/Likely_benign
5	256357	G	A	G256357A	SDHA	NM_004168.4(SDHA):c.1932G>A:p.Val644=	coding	Benign
5	256394	G	A	G256394A	SDHA	NM_004168.4(SDHA):c.1969G>A:p.Val657Ile	coding	Benign
5	256399	G	C	G256399C	SDHA	NM_004168.4(SDHA):c.1974G>C:p.Pro658=	coding	Benign/Likely_benign
5	422791	C	T	C422791T	AHRR	NM_020731.4(AHRR):c.516C>T:p.Cys172=	coding	Benign
5	434031	C	T	C434031T	AHRR	NM_020731.4(AHRR):c.1357C>T:p.Arg453Cys	coding	Benign
5	434169	C	T	C434169T	AHRR	NM_020731.4(AHRR):c.1495C>T:p.His499Tyr	coding	Benign
5	446331	C	T	C446331T	EXOC3	NM_007277.5(EXOC3):c.126C>T:p.Ser42=	coding	Benign
5	447622	G	A	G447622A	EXOC3	NM_007277.5(EXOC3):c.234G>A:p.Ser78=	coding	Benign
5	453913	C	G	C453913G	EXOC3	NM_007277.5(EXOC3):c.908C>G:p.Pro303Arg	coding	Benign
5	476576	C	T	C476576T	SLC9A3	NM_004174.4(SLC9A3):c.1857G>A:p.Thr619=	coding	Benign
5	476601	G	A	G476601A	SLC9A3	NM_004174.4(SLC9A3):c.1832C>T:p.Ala611Val	coding	Benign
5	477364	C	T	C477364T	SLC9A3	NM_004174.4(SLC9A3):c.1728G>A:p.Ser576=	coding	Benign
5	477393	C	T	C477393T	SLC9A3	NM_004174.4(SLC9A3):c.1699G>A:p.Val567Met	coding	Benign
5	482671	G	A	G482671A	SLC9A3	NM_004174.4(SLC9A3):c.1233C>T:p.Tyr411=	coding	Benign
5	483270	C	T	C483270T	SLC9A3	NM_004174.4(SLC9A3):c.1145G>A:p.Arg382Gln	coding	Pathogenic
5	484520	G	A	G484520A	SLC9A3	NM_004174.4(SLC9A3):c.932C>T:p.Ala311Val	coding	Pathogenic
5	484647	C	T	C484647T	SLC9A3	NM_004174.4(SLC9A3):c.805G>A:p.Ala269Thr	coding	Pathogenic
5	485166	G	A	G485166A	SLC9A3	NM_004174.4(SLC9A3):c.741C>T:p.Cys247=	coding	Benign
5	488475	G	A	G488475A	SLC9A3	NM_004174.4(SLC9A3):c.516C>T:p.Gly172=	coding	Benign
5	491821	G	A	G491821A	SLC9A3	NM_004174.4(SLC9A3):c.462C>T:p.Asn154=	coding	Benign
5	491944	G	A	G491944A	SLC9A3	NM_004174.4(SLC9A3):c.339C>T:p.Thr113=	coding	Benign
5	491980	C	T	C491980T	SLC9A3	NM_004174.4(SLC9A3):c.303G>A:p.Ala101=	coding	Benign
5	624472	C	T	C624472T	CEP72	NM_018140.4(CEP72):c.405C>T:p.Asp135=	coding	Benign
5	665141	G	A	G665141A	TPPP	NM_007030.3(TPPP):c.621C>T:p.His207=	coding	Benign
5	665261	C	T	C665261T	TPPP	NM_007030.3(TPPP):c.501G>A:p.Thr167=	coding	Benign
5	677890	G	A	G677890A	TPPP	NM_007030.3(TPPP):c.171C>T:p.Arg57=	coding	Benign
5	677945	C	G	C677945G	TPPP	NM_007030.3(TPPP):c.116G>C:p.Gly39Ala	coding	Benign
5	678004	C	T	C678004T	TPPP	NM_007030.3(TPPP):c.57G>A:p.Pro19=	coding	Benign
5	850572	C	A	C850572A	ZDHHC11	NM_024786.2(ZDHHC11):c.31G>T:p.Val11Phe	coding	Benign
5	865587	T	C	T865587C	BRD9	NM_023924.5(BRD9):c.1526-6A>G	noncoding	Benign
5	886609	C	T	C886609T	BRD9	NM_023924.5(BRD9):c.816G>A:p.Pro272=	coding	Benign
5	893075	A	G	A893075G	TRIP13	NM_004237.4(TRIP13):c.77A>G:p.His26Arg	coding	Pathogenic
5	896683	T	C	T896683C	TRIP13	NM_004237.4(TRIP13):c.277T>C:p.Cys93Arg	coding	Benign
5	901414	G	A	G901414A	TRIP13	NM_004237.4(TRIP13):c.518G>A:p.Arg173Gln	coding	Pathogenic
5	901438	T	C	T901438C	TRIP13	NM_004237.4(TRIP13):c.535+7T>C	noncoding	Benign
5	904204	A	G	A904204G	TRIP13	NM_004237.4(TRIP13):c.592A>G:p.Ile198Val	coding	Pathogenic
5	907987	G	C	G907987C	TRIP13	NM_004237.4(TRIP13):c.673-1G>C	noncoding	Pathogenic
5	908054	G	A	G908054A	TRIP13	NM_004237.4(TRIP13):c.739G>A:p.Val247Met	coding	Pathogenic
5	911882	C	G	C911882G	TRIP13	NM_004237.4(TRIP13):c.906C>G:p.Thr302=	coding	Benign
5	911883	G	A	G911883A	TRIP13	NM_004237.4(TRIP13):c.907G>A:p.Glu303Lys	coding	Pathogenic
5	914504	C	T	C914504T	TRIP13	NM_004237.4(TRIP13):c.1060C>T:p.Arg354Ter	coding	Pathogenic
5	914554	C	T	C914554T	TRIP13	NM_004237.4(TRIP13):c.1110C>T:p.Ser370=	coding	Benign
5	1034760	T	A	T1034760A	NKD2	NM_033120.4(NKD2):c.431T>A:p.Met144Lys	coding	Benign
5	1035404	G	A	G1035404A	NKD2	NM_033120.4(NKD2):c.590G>A:p.Arg197His	coding	Benign
5	1036367	C	A	C1036367A	NKD2	NM_033120.4(NKD2):c.770C>A:p.Thr257Lys	coding	Benign
5	1037960	C	T	C1037960T	NKD2	NM_033120.4(NKD2):c.943C>T:p.Arg315Trp	coding	Benign
5	1063985	G	A	G1063985A	SLC12A7	NM_006598.3(SLC12A7):c.2608-10C>T	noncoding	Benign
5	1064149	G	A	G1064149A	SLC12A7	NM_006598.3(SLC12A7):c.2541C>T:p.Asp847=	coding	Benign
5	1073768	C	T	C1073768T	SLC12A7	NM_006598.3(SLC12A7):c.2106G>A:p.Ala702=	coding	Benign
5	1073771	G	A	G1073771A	SLC12A7	NM_006598.3(SLC12A7):c.2103C>T:p.Asp701=	coding	Benign
5	1075373	G	A	G1075373A	SLC12A7	NM_006598.3(SLC12A7):c.1965C>T:p.Arg655=	coding	Benign
5	1077858	C	T	C1077858T	SLC12A7	NM_006598.3(SLC12A7):c.1604G>A:p.Arg535His	coding	Benign
5	1081740	G	A	G1081740A	SLC12A7	NM_006598.3(SLC12A7):c.1134C>T:p.Asn378=	coding	Benign
5	1083822	G	A	G1083822A	SLC12A7	NM_006598.3(SLC12A7):c.1052C>T:p.Ala351Val	coding	Benign
5	1083866	G	A	G1083866A	SLC12A7	NM_006598.3(SLC12A7):c.1008C>T:p.Ser336=	coding	Benign
5	1089090	C	T	C1089090T	SLC12A7	NM_006598.3(SLC12A7):c.381G>A:p.Pro127=	coding	Benign
5	1201691	G	A	G1201691A	SLC6A19	NM_001003841.3(SLC6A19):c.41G>A:p.Arg14Gln	coding	Benign/Likely_benign
5	1201695	C	G	C1201695G	SLC6A19	NM_001003841.3(SLC6A19):c.45C>G:p.Ile15Met	coding	Benign
5	1201764	G	A	G1201764A	SLC6A19	NM_001003841.3(SLC6A19):c.114G>A:p.Lys38=	coding	Benign
5	1201767	G	A	G1201767A	SLC6A19	NM_001003841.3(SLC6A19):c.117G>A:p.Ala39=	coding	Benign
5	1201806	C	T	C1201806T	SLC6A19	NM_001003841.3(SLC6A19):c.156C>T:p.Leu52=	coding	Benign
5	1208819	C	T	C1208819T	SLC6A19	NM_001003841.3(SLC6A19):c.276C>T:p.Ile92=	coding	Benign
5	1208870	G	A	G1208870A	SLC6A19	NM_001003841.3(SLC6A19):c.327G>A:p.Pro109=	coding	Benign
5	1212353	C	T	C1212353T	SLC6A19	NM_001003841.3(SLC6A19):c.532C>T:p.Arg178Ter	coding	Pathogenic
5	1212376	G	A	G1212376A	SLC6A19	NM_001003841.3(SLC6A19):c.555G>A:p.Thr185=	coding	Benign
5	1212379	C	T	C1212379T	SLC6A19	NM_001003841.3(SLC6A19):c.558C>T:p.Ser186=	coding	Benign
5	1213517	C	T	C1213517T	SLC6A19	NM_001003841.3(SLC6A19):c.718C>T:p.Arg240Ter	coding	Pathogenic
5	1213948	C	T	C1213948T	SLC6A19	NM_001003841.3(SLC6A19):c.775-5C>T	noncoding	Benign
5	1213991	G	A	G1213991A	SLC6A19	NM_001003841.3(SLC6A19):c.813G>A:p.Ala271=	coding	Benign
5	1216555	C	T	C1216555T	SLC6A19	NM_001003841.3(SLC6A19):c.888-3C>T	noncoding	Benign
5	1216578	C	T	C1216578T	SLC6A19	NM_001003841.3(SLC6A19):c.908C>T:p.Ser303Leu	coding	Pathogenic
5	1216636	C	T	C1216636T	SLC6A19	NM_001003841.3(SLC6A19):c.966C>T:p.Tyr322=	coding	Benign
5	1216654	C	T	C1216654T	SLC6A19	NM_001003841.3(SLC6A19):c.984C>T:p.Arg328=	coding	Benign
5	1216672	C	T	C1216672T	SLC6A19	NM_001003841.3(SLC6A19):c.1002C>T:p.Asp334=	coding	Benign
5	1216947	T	G	T1216947G	SLC6A19	NM_001003841.3(SLC6A19):c.1173+2T>G	noncoding	Pathogenic
5	1221313	C	T	C1221313T	SLC6A19	NM_001003841.3(SLC6A19):c.1701C>T:p.Tyr567=	coding	Benign
5	1232330	C	T	C1232330T	SLC6A18	NM_182632.3(SLC6A18):c.272C>T:p.Thr91Met	coding	Benign
5	1235512	C	T	C1235512T	SLC6A18	NM_182632.3(SLC6A18):c.471C>T:p.Ala157=	coding	Benign
5	1238000	C	T	C1238000T	SLC6A18	NM_182632.3(SLC6A18):c.672C>T:p.Leu224=	coding	Benign
5	1239542	T	C	T1239542C	SLC6A18	NM_182632.3(SLC6A18):c.825T>C:p.Phe275=	coding	Benign
5	1239556	C	T	C1239556T	SLC6A18	NM_182632.3(SLC6A18):c.839C>T:p.Ser280Leu	coding	Benign
5	1240634	A	G	A1240634G	SLC6A18	NM_182632.3(SLC6A18):c.949A>G:p.Asn317Asp	coding	Benign
5	1242764	C	T	C1242764T	SLC6A18	NM_182632.3(SLC6A18):c.1032C>T:p.Asp344=	coding	Benign
5	1243551	G	A	G1243551A	SLC6A18	NM_182632.3(SLC6A18):c.1132-4G>A	noncoding	Benign
5	1243601	A	T	A1243601T	SLC6A18	NM_182632.3(SLC6A18):c.1178A>T:p.Asp393Val	coding	Benign
5	1243633	A	G	A1243633G	SLC6A18	NM_182632.3(SLC6A18):c.1210A>G:p.Met404Val	coding	Benign
5	1243716	C	T	C1243716T	SLC6A18	NM_182632.3(SLC6A18):c.1293C>T:p.Asp431=	coding	Benign
5	1243735	T	A	T1243735A	SLC6A18	NM_182632.3(SLC6A18):c.1312T>A:p.Trp438Arg	coding	Benign
5	1245882	C	A	C1245882A	SLC6A18	NM_182632.3(SLC6A18):c.1691C>A:p.Pro564Gln	coding	Benign
5	1245989	G	C	G1245989C	SLC6A18	NM_182632.3(SLC6A18):c.1798G>C:p.Asp600His	coding	Benign
5	1253575	G	A	G1253575A	TERT	NM_198253.3(TERT):c.*153C>T	noncoding	Benign
5	1253629	G	A	G1253629A	TERT	NM_198253.3(TERT):c.*99C>T	noncoding	Benign
5	1253665	G	A	G1253665A	TERT	NM_198253.3(TERT):c.*63C>T	noncoding	Benign
5	1253781	C	G	C1253781G	TERT	NM_198253.3(TERT):c.3346G>C:p.Glu1116Gln	coding	Pathogenic
5	1253803	C	T	C1253803T	TERT	NM_198253.3(TERT):c.3324G>A:p.Pro1108=	coding	Benign
5	1254452	G	A	G1254452A	TERT	NM_198253.3(TERT):c.3211C>T:p.Gln1071Ter	coding	Pathogenic
5	1255339	G	A	G1255339A	TERT	NM_198253.3(TERT):c.3105C>T:p.Val1035=	coding	Benign/Likely_benign
5	1255401	A	G	A1255401G	TERT	NM_198253.3(TERT):c.3043T>C:p.Cys1015Arg	coding	Pathogenic
5	1255405	G	A	G1255405A	TERT	NM_198253.3(TERT):c.3039C>T:p.His1013=	coding	Benign
5	1264408	A	G	A1264408G	TERT	NM_198253.2(TERT):c.2839T>C:p.Ser947Pro	coding	Pathogenic
5	1264472	G	A	G1264472A	TERT	NM_198253.2(TERT):c.2775C>T:p.His925=	coding	Benign/Likely_benign
5	1264541	C	G	C1264541G	TERT	NM_198253.2(TERT):c.2706G>C:p.Lys902Asn	coding	Pathogenic
5	1264542	T	C	T1264542C	TERT	NM_001193376.2(TERT):c.2654+1922A>G	coding	Pathogenic
5	1264543	T	A	T1264543A	TERT	NM_198253.3(TERT):c.2704A>T:p.Lys902Ter	coding	Pathogenic
5	1264589	G	T	G1264589T	TERT	NM_198253.3(TERT):c.2658C>A:p.Thr886=	coding	Benign
5	1266195	A	G	A1266195G	TERT	NM_198253.2(TERT):c.2654+269T>C	noncoding	Benign
5	1266479	G	A	G1266479A	TERT	NM_198253.3(TERT):c.2639C>T:p.Ala880Val	coding	Pathogenic
5	1266490	G	C	G1266490C	TERT	NM_198253.3(TERT):c.2628C>G:p.His876Gln	coding	Pathogenic
5	1266537	T	G	T1266537G	TERT	NM_198253.2(TERT):c.2583-2A>C	noncoding	Pathogenic
5	1268509	G	A	G1268509A	TERT	NM_198253.2(TERT):c.2582+11C>T	noncoding	Benign
5	1268565	T	C	T1268565C	TERT	NM_198253.3(TERT):c.2537A>G:p.Tyr846Cys	coding	Pathogenic
5	1268582	C	T	C1268582T	TERT	NM_198253.3(TERT):c.2520G>A:p.Leu840=	coding	Benign/Likely_benign
5	1268585	C	T	C1268585T	TERT	NM_198253.3(TERT):c.2517G>A:p.Thr839=	coding	Benign/Likely_benign
5	1271219	G	A	G1271219A	TERT	NM_198253.2(TERT):c.2383-15C>T	noncoding	Benign/Likely_benign
5	1272247	G	A	G1272247A	TERT	NM_198253.2(TERT):c.2320C>T:p.Arg774Ter	coding	Pathogenic
5	1272252	T	C	T1272252C	TERT	NM_198253.2(TERT):c.2315A>G:p.Tyr772Cys	coding	Pathogenic
5	1278765	G	C	G1278765C	TERT	NM_198253.3(TERT):c.2162C>G:p.Pro721Arg	coding	Pathogenic
5	1278780	G	A	G1278780A	TERT	NM_198253.3(TERT):c.2147C>T:p.Ala716Val	coding	Pathogenic
5	1278781	C	T	C1278781T	TERT	NM_198253.3(TERT):c.2146G>A:p.Ala716Thr	coding	Pathogenic
5	1278788	C	T	C1278788T	TERT	NM_198253.3(TERT):c.2139G>A:p.Val713=	coding	Benign
5	1279323	G	A	G1279323A	TERT	NM_198253.3(TERT):c.2098C>T:p.Gln700Ter	coding	Pathogenic
5	1279324	G	A	G1279324A	TERT	NM_198253.3(TERT):c.2097C>T:p.Ala699=	coding	Benign
5	1279376	C	T	C1279376T	TERT	NM_198253.3(TERT):c.2045G>A:p.Gly682Asp	coding	Pathogenic
5	1279390	G	A	G1279390A	TERT	NM_198253.3(TERT):c.2031C>T:p.Gly677=	coding	Benign
5	1279392	C	A	C1279392A	TERT	NM_198253.3(TERT):c.2029G>T:p.Gly677Cys	coding	Pathogenic
5	1279417	C	G	C1279417G	TERT	NM_198253.3(TERT):c.2004G>C:p.Glu668Asp	coding	Pathogenic
5	1279675	C	T	C1279675T	TERT	NM_198253.2(TERT):c.1951-205G>A	noncoding	Benign
5	1279913	G	A	G1279913A	TERT	NM_198253.2(TERT):c.1950+245C>T	noncoding	Benign
5	1280148	G	A	G1280148A	TERT	NM_198253.3(TERT):c.1950+10C>T	noncoding	Benign
5	1280216	C	T	C1280216T	TERT	NM_198253.3(TERT):c.1892G>A:p.Arg631Gln	coding	Pathogenic
5	1280217	G	A	G1280217A	TERT	NM_198253.3(TERT):c.1891C>T:p.Arg631Trp	coding	Pathogenic
5	1280224	G	A	G1280224A	TERT	NM_198253.3(TERT):c.1884C>T:p.Asp628=	coding	Benign/Likely_benign
5	1280296	T	C	T1280296C	TERT	NM_198253.3(TERT):c.1812A>G:p.Ala604=	coding	Benign/Likely_benign
5	1280312	C	T	C1280312T	TERT	NM_198253.3(TERT):c.1796G>A:p.Arg599Gln	coding	Pathogenic
5	1280323	C	T	C1280323T	TERT	NM_198253.3(TERT):c.1785G>A:p.Arg595=	coding	Benign
5	1282455	C	T	C1282455T	TERT	NM_198253.3(TERT):c.1743G>A:p.Trp581Ter	coding	Pathogenic
5	1282539	G	A	G1282539A	TERT	NM_198253.3(TERT):c.1659C>T:p.Val553=	coding	Benign
5	1282631	C	T	C1282631T	TERT	NM_198253.3(TERT):c.1574-7G>A	noncoding	Benign/Likely_benign
5	1293430	G	A	G1293430A	TERT	NM_198253.3(TERT):c.1456C>T:p.Arg486Cys	coding	Pathogenic
5	1293436	C	A	C1293436A	TERT	NM_198253.3(TERT):c.1450G>T:p.Glu484Ter	coding	Pathogenic
5	1293452	C	T	C1293452T	TERT	NM_198253.3(TERT):c.1434G>A:p.Trp478Ter	coding	Pathogenic
5	1293494	G	A	G1293494A	TERT	NM_198253.3(TERT):c.1392C>T:p.Phe464=	coding	Benign/Likely_benign
5	1293505	C	A	C1293505A	TERT	NM_198253.3(TERT):c.1381G>T:p.Val461Leu	coding	Pathogenic
5	1293601	C	A	C1293601A	TERT	NM_198253.3(TERT):c.1285G>T:p.Glu429Ter	coding	Pathogenic
5	1293652	G	A	G1293652A	TERT	NM_198253.3(TERT):c.1234C>T:p.His412Tyr	coding	Benign/Likely_benign
5	1293748	G	A	G1293748A	TERT	NM_198253.3(TERT):c.1138C>T:p.Pro380Ser	coding	Benign
5	1293917	C	T	C1293917T	TERT	NM_198253.3(TERT):c.969G>A:p.Pro323=	coding	Benign
5	1293971	C	T	C1293971T	TERT	NM_198253.3(TERT):c.915G>A:p.Ala305=	coding	Benign
5	1294051	C	T	C1294051T	TERT	NM_198253.3(TERT):c.835G>A:p.Ala279Thr	coding	Benign
5	1294198	G	A	G1294198A	TERT	NM_198253.3(TERT):c.688C>T:p.Arg230Ter	coding	Pathogenic
5	1294352	G	A	G1294352A	TERT	NM_198253.3(TERT):c.534C>T:p.Leu178=	coding	Benign/Likely_benign
5	1294770	C	T	C1294770T	TERT	NM_198253.2(TERT):c.219+1G>A	noncoding	Pathogenic
5	1294810	C	T	C1294810T	TERT	NM_198253.3(TERT):c.180G>A:p.Trp60Ter	coding	Pathogenic
5	1294826	A	T	A1294826T	TERT	NM_198253.3(TERT):c.164T>A:p.Leu55Gln	coding	Pathogenic
5	1294828	G	T	G1294828T	TERT	NM_198253.3(TERT):c.162C>A:p.Cys54Ter	coding	Pathogenic
5	1294893	G	A	G1294893A	TERT	NM_198253.3(TERT):c.97C>T:p.Pro33Ser	coding	Pathogenic
5	1295234	A	G	A1295234G	TERT	NM_198253.2(TERT):c.-245T>C	noncoding	Benign
5	1400906	C	T	C1400906T	SLC6A3	NM_001044.5(SLC6A3):c.1839+9G>A	noncoding	Benign
5	1402958	G	A	G1402958A	SLC6A3	NM_001044.5(SLC6A3):c.1731C>T:p.Ala577=	coding	Benign
5	1402997	G	A	G1402997A	SLC6A3	NM_001044.5(SLC6A3):c.1692C>T:p.Ile564=	coding	Benign
5	1406226	G	A	G1406226A	SLC6A3	NM_001044.5(SLC6A3):c.1561C>T:p.Arg521Trp	coding	Pathogenic
5	1406260	C	T	C1406260T	SLC6A3	NM_001044.5(SLC6A3):c.1527G>A:p.Gln509=	coding	Benign
5	1409012	T	C	T1409012C	SLC6A3	NM_001044.5(SLC6A3):c.1498+14A>G	noncoding	Benign
5	1409016	C	T	C1409016T	SLC6A3	NM_001044.5(SLC6A3):c.1498+10G>A	noncoding	Benign
5	1409054	G	A	G1409054A	SLC6A3	NM_001044.5(SLC6A3):c.1470C>T:p.Ile490=	coding	Benign
5	1409111	G	C	G1409111C	SLC6A3	NM_001044.5(SLC6A3):c.1413C>G:p.Val471=	coding	Benign
5	1409721	G	A	G1409721A	SLC6A3	NM_001044.5(SLC6A3):c.1398C>T:p.Asn466=	coding	Benign
5	1409763	G	A	G1409763A	SLC6A3	NM_001044.5(SLC6A3):c.1356C>T:p.Ile452=	coding	Benign
5	1411242	C	T	C1411242T	SLC6A3	NM_001044.5(SLC6A3):c.1269+1G>A	noncoding	Pathogenic
5	1411297	T	C	T1411297C	SLC6A3	NM_001044.5(SLC6A3):c.1215A>G:p.Ser405=	coding	Benign
5	1411328	G	A	G1411328A	SLC6A3	NM_001044.5(SLC6A3):c.1184C>T:p.Pro395Leu	coding	Pathogenic
5	1414710	G	A	G1414710A	SLC6A3	NM_001044.5(SLC6A3):c.1137C>T:p.Ile379=	coding	Benign
5	1414744	A	T	A1414744T	SLC6A3	NM_001044.5(SLC6A3):c.1103T>A:p.Leu368Gln	coding	Pathogenic
5	1414761	G	A	G1414761A	SLC6A3	NM_001044.5(SLC6A3):c.1086C>T:p.Phe362=	coding	Benign
5	1414812	G	A	G1414812A	SLC6A3	NM_001044.5(SLC6A3):c.1035C>T:p.Asp345=	coding	Benign
5	1420686	G	A	G1420686A	SLC6A3	NM_001044.5(SLC6A3):c.810C>T:p.Ala270=	coding	Benign
5	1421997	A	G	A1421997G	SLC6A3	NM_001044.5(SLC6A3):c.671T>C:p.Leu224Pro	coding	Pathogenic
5	1432571	G	A	G1432571A	SLC6A3	NM_001044.5(SLC6A3):c.546C>T:p.Asn182=	coding	Benign/Likely_benign
5	1432710	G	T	G1432710T	SLC6A3	NM_001044.5(SLC6A3):c.419-12C>A	noncoding	Benign
5	1443036	G	A	G1443036A	SLC6A3	NM_001044.5(SLC6A3):c.162C>T:p.Pro54=	coding	Benign
5	1443048	C	A	C1443048A	SLC6A3	NM_001044.5(SLC6A3):c.150G>T:p.Pro50=	coding	Benign
5	1443084	G	A	G1443084A	SLC6A3	NM_001044.5(SLC6A3):c.114C>T:p.Asn38=	coding	Benign
5	1443138	C	T	C1443138T	SLC6A3	NM_001044.5(SLC6A3):c.60G>A:p.Glu20=	coding	Benign
5	1470826	C	T	C1470826T	LPCAT1	NM_024830.5(LPCAT1):c.1278G>A:p.Lys426=	coding	Benign
5	1470865	C	T	C1470865T	LPCAT1	NM_024830.5(LPCAT1):c.1239G>A:p.Arg413=	coding	Benign
5	1801484	C	T	C1801484T	NDUFS6	NM_004553.6(NDUFS6):c.67C>T:p.Leu23=	coding	Benign
5	1801513	C	A	C1801513A	NDUFS6	NM_004553.5(NDUFS6):c.96C>A:p.Val32=	coding	Benign/Likely_benign
5	1802115	C	T	C1802115T	NDUFS6	NM_004553.5(NDUFS6):c.133-206C>T	noncoding	Benign
5	1802376	T	A	T1802376A	NDUFS6	NM_004553.5(NDUFS6):c.186+2T>A	noncoding	Pathogenic
5	1814032	G	A	G1814032A	NDUFS6	NM_004553.5(NDUFS6):c.187-307G>A	noncoding	Benign
5	1814255	C	T	C1814255T	NDUFS6	NM_004553.5(NDUFS6):c.187-84C>T	noncoding	Benign
5	1814468	A	G	A1814468G	NDUFS6	NM_004553.6(NDUFS6):c.309+7A>G	noncoding	Benign
5	1814669	T	C	T1814669C	NDUFS6	NM_004553.5(NDUFS6):c.309+208T>C	noncoding	Benign
5	1815707	C	T	C1815707T	NDUFS6	NM_004553.5(NDUFS6):c.310-144C>T	noncoding	Benign
5	1815836	T	C	T1815836C	NDUFS6	NM_004553.5(NDUFS6):c.310-15T>C	noncoding	Benign
5	1815885	G	A	G1815885A	NDUFS6	NM_004553.5(NDUFS6):c.344G>A:p.Cys115Tyr	coding	Pathogenic
5	1878385	C	A	C1878385A	IRX4	NM_016358.3(IRX4):c.1144G>T:p.Ala382Ser	coding	Benign
5	1878407	T	C	T1878407C	IRX4	NM_016358.3(IRX4):c.1122A>G:p.Thr374=	coding	Benign
5	2749671	C	G	C2749671G	IRX2	NM_033267.5(IRX2):c.366G>C:p.Thr122=	coding	Benign
5	2749701	G	C	G2749701C	IRX2	NM_033267.5(IRX2):c.336C>G:p.Leu112=	coding	Benign
5	3599266	C	T	C3599266T	IRX1	NM_024337.4(IRX1):c.318C>T:p.Pro106=	coding	Benign
5	3600202	T	A	T3600202A	IRX1	NM_024337.4(IRX1):c.1254T>A:p.Ile418=	coding	Benign
5	3600629	C	A	C3600629A	IRX1	NM_024337.4(IRX1):c.1333C>A:p.Pro445Thr	coding	Benign
5	4478434	A	C	A4478434C	-	NC_000005.10:g.4478434A>C	noncoding	Benign
5	5239196	G	A	G5239196A	ADAMTS16	NM_139056.4(ADAMTS16):c.2200G>A:p.Val734Ile	coding	Benign
5	5441109	T	C	T5441109C	ICE1	NM_015325.3(ICE1):c.198-3T>C	noncoding	Benign
5	5441201	A	G	A5441201G	ICE1	NM_015325.3(ICE1):c.287A>G:p.Lys96Arg	coding	Benign
5	5457580	G	A	G5457580A	ICE1	NM_015325.3(ICE1):c.940G>A:p.Gly314Ser	coding	Benign
5	5461440	C	T	C5461440T	ICE1	NM_015325.3(ICE1):c.2106C>T:p.Ser702=	coding	Benign
5	5463379	C	T	C5463379T	ICE1	NM_015325.3(ICE1):c.4045C>T:p.Arg1349Cys	coding	Benign
5	5464298	C	T	C5464298T	ICE1	NM_015325.3(ICE1):c.4964C>T:p.Ser1655Leu	coding	Benign
5	5464305	T	C	T5464305C	ICE1	NM_015325.3(ICE1):c.4971T>C:p.Ser1657=	coding	Benign
5	5464467	G	A	G5464467A	ICE1	NM_015325.3(ICE1):c.5133G>A:p.Pro1711=	coding	Benign
5	6599345	A	G	A6599345G	NSUN2	NM_017755.6(NSUN2):c.*581T>C	noncoding	Benign
5	6599363	G	A	G6599363A	NSUN2	NM_017755.6(NSUN2):c.*563C>T	noncoding	Benign
5	6599827	C	T	C6599827T	NSUN2	NM_017755.6(NSUN2):c.*99G>A	noncoding	Benign
5	6599876	A	C	A6599876C	NSUN2	NM_017755.6(NSUN2):c.*50T>G	noncoding	Benign
5	6599951	G	T	G6599951T	NSUN2	NM_017755.6(NSUN2):c.2279C>A:p.Pro760Gln	coding	Benign
5	6600007	G	A	G6600007A	NSUN2	NM_017755.6(NSUN2):c.2223C>T:p.Pro741=	coding	Benign
5	6600037	G	A	G6600037A	NSUN2	NM_017755.6(NSUN2):c.2193C>T:p.Asp731=	coding	Benign
5	6600087	C	T	C6600087T	NSUN2	NM_017755.6(NSUN2):c.2143G>A:p.Val715Ile	coding	Benign/Likely_benign
5	6600195	C	T	C6600195T	NSUN2	NM_017755.6(NSUN2):c.2035G>A:p.Gly679Arg	coding	Pathogenic
5	6604216	C	T	C6604216T	NSUN2	NM_017755.6(NSUN2):c.1879G>A:p.Val627Ile	coding	Benign
5	6604674	C	T	C6604674T	NSUN2	NM_017755.6(NSUN2):c.1749G>A:p.Thr583=	coding	Benign
5	6605419	C	A	C6605419A	NSUN2	NM_017755.6(NSUN2):c.1602-11G>T	noncoding	Benign
5	6609844	C	T	C6609844T	NSUN2	NM_017755.6(NSUN2):c.1305G>A:p.Trp435Ter	coding	Pathogenic
5	6611067	G	A	G6611067A	NSUN2	NM_017755.6(NSUN2):c.1114C>T:p.Gln372Ter	coding	Pathogenic
5	6620242	G	A	G6620242A	NSUN2	NM_017755.6(NSUN2):c.679C>T:p.Gln227Ter	coding	Pathogenic
5	6622009	T	A	T6622009A	NSUN2	NM_017755.6(NSUN2):c.622+7A>T	noncoding	Benign
5	6622026	G	T	G6622026T	NSUN2	NM_017755.6(NSUN2):c.612C>A:p.Val204=	coding	Benign/Likely_benign
5	6622101	C	G	C6622101G	NSUN2	NM_017755.6(NSUN2):c.538-1G>C	coding	Pathogenic
5	6623205	A	G	A6623205G	NSUN2	NM_017755.6(NSUN2):c.537+9T>C	noncoding	Benign
5	6623241	C	T	C6623241T	NSUN2	NM_017755.6(NSUN2):c.510G>A:p.Leu170=	coding	Benign
5	6632631	G	A	G6632631A	NSUN2	NM_017755.6(NSUN2):c.222C>T:p.Leu74=	coding	Benign/Likely_benign
5	6632730	G	A	G6632730A	NSUN2	NM_017755.6(NSUN2):c.123C>T:p.Ile41=	coding	Benign/Likely_benign
5	6632762	G	A	G6632762A	NSUN2	NM_017755.6(NSUN2):c.97-6C>T	noncoding	Benign
5	6632929	C	T	C6632929T	NSUN2	NM_017755.6(NSUN2):c.51G>A:p.Glu17=	coding	Benign
5	6632958	G	A	G6632958A	NSUN2	NM_017755.6(NSUN2):c.22C>T:p.Arg8Trp	coding	Benign
5	6632959	A	G	A6632959G	NSUN2	NM_017755.6(NSUN2):c.21T>C:p.Gly7=	coding	Benign
5	6633006	G	T	G6633006T	NSUN2	NM_017755.6(NSUN2):c.-27C>A	noncoding	Benign
5	6633109	C	T	C6633109T	NSUN2	NM_017755.5(NSUN2):c.-130G>A	noncoding	Benign
5	6633334	C	T	C6633334T	NSUN2	NM_017755.5(NSUN2):c.-355G>A	noncoding	Benign
5	6656094	A	G	A6656094G	SRD5A1	NM_001047.4(SRD5A1):c.477A>G:p.Leu159=	coding	Benign
5	6662832	C	T	C6662832T	SRD5A1	NM_001047.4(SRD5A1):c.579C>T:p.Tyr193=	coding	Benign
5	7804593	C	G	C7804593G	ADCY2	NM_020546.3(ADCY2):c.2784C>G:p.Ser928=	coding	Benign
5	7866709	C	G	C7866709G	FASTKD3	NM_024091.4(FASTKD3):c.1375G>C:p.Glu459Gln	coding	Benign
5	7866788	C	A	C7866788A	FASTKD3	NM_024091.4(FASTKD3):c.1296G>T:p.Leu432=	coding	Benign
5	7869122	T	C	T7869122C	MTRR	NM_002454.2(MTRR):c.-119T>C	noncoding	Benign
5	7873387	C	T	C7873387T	MTRR	NM_002454.3(MTRR):c.144C>T:p.Thr48=	coding	Benign/Likely_benign
5	7873420	C	G	C7873420G	MTRR	NM_002454.3(MTRR):c.177C>G:p.Thr59=	coding	Benign/Likely_benign
5	7873453	C	G	C7873453G	MTRR	NM_002454.3(MTRR):c.210C>G:p.Arg70=	coding	Benign/Likely_benign
5	7875262	C	T	C7875262T	MTRR	NM_002454.3(MTRR):c.288C>T:p.Leu96=	coding	Benign/Likely_benign
5	7875314	C	T	C7875314T	MTRR	NM_002454.3(MTRR):c.340C>T:p.Arg114Ter	coding	Pathogenic
5	7878005	A	C	A7878005C	MTRR	NM_002454.3(MTRR):c.463A>C:p.Arg155=	coding	Benign/Likely_benign
5	7878066	C	T	C7878066T	MTRR	NM_002454.3(MTRR):c.524C>T:p.Ser175Leu	coding	Benign
5	7878079	T	C	T7878079C	MTRR	NM_002454.3(MTRR):c.537T>C:p.Leu179=	coding	Benign
5	7878308	G	T	G7878308T	MTRR	NM_002454.3(MTRR):c.766G>T:p.Glu256Ter	coding	Pathogenic
5	7878311	T	A	T7878311A	MTRR	NM_002454.3(MTRR):c.769T>A:p.Ser257Thr	coding	Benign
5	7883202	G	A	G7883202A	MTRR	NM_002454.3(MTRR):c.828G>A:p.Val276=	coding	Benign/Likely_benign
5	7883250	C	T	C7883250T	MTRR	NM_002454.3(MTRR):c.876C>T:p.Thr292=	coding	Benign/Likely_benign
5	7883253	T	C	T7883253C	MTRR	NM_002454.3(MTRR):c.879T>C:p.Thr293=	coding	Benign
5	7883746	T	C	T7883746C	MTRR	NM_002454.3(MTRR):c.903+469T>C	noncoding	Pathogenic
5	7885794	C	G	C7885794G	MTRR	NM_002454.3(MTRR):c.997C>G:p.Leu333Val	coding	Benign
5	7885846	A	G	A7885846G	MTRR	NM_002454.3(MTRR):c.1049A>G:p.Lys350Arg	coding	Benign
5	7889103	G	A	G7889103A	MTRR	NM_002454.3(MTRR):c.1155G>A:p.Leu385=	coding	Benign
5	7889191	C	T	C7889191T	MTRR	NM_002454.3(MTRR):c.1243C>T:p.Arg415Cys	coding	Benign
5	7889200	C	T	C7889200T	MTRR	NM_002454.3(MTRR):c.1252C>T:p.Arg418Ter	coding	Pathogenic
5	7889274	C	T	C7889274T	MTRR	NM_002454.3(MTRR):c.1326C>T:p.Leu442=	coding	Benign/Likely_benign
5	7891393	C	G	C7891393G	MTRR	NM_002454.3(MTRR):c.1349C>G:p.Pro450Arg	coding	Benign
5	7891405	C	T	C7891405T	MTRR	NM_002454.3(MTRR):c.1361C>T:p.Ser454Leu	coding	Pathogenic
5	7891433	G	A	G7891433A	MTRR	NM_002454.3(MTRR):c.1370+19G>A	noncoding	Benign
5	7892735	T	G	T7892735G	MTRR	NM_002454.3(MTRR):c.1379T>G:p.Leu460Ter	coding	Pathogenic
5	7892815	G	A	G7892815A	MTRR	NM_002454.3(MTRR):c.1459G>A:p.Gly487Arg	coding	Pathogenic
5	7892820	A	G	A7892820G	MTRR	NM_002454.3(MTRR):c.1464A>G:p.Val488=	coding	Benign
5	7892824	A	G	A7892824G	MTRR	NM_002454.3(MTRR):c.1468A>G:p.Thr490Ala	coding	Benign/Likely_benign
5	7892892	C	T	C7892892T	MTRR	NM_002454.3(MTRR):c.1536C>T:p.Ser512=	coding	Benign
5	7895749	C	T	C7895749T	MTRR	NM_002454.3(MTRR):c.1573C>T:p.Arg525Ter	coding	Pathogenic
5	7895829	G	A	G7895829A	MTRR	NM_002454.3(MTRR):c.1653G>A:p.Pro551=	coding	Benign
5	7895872	A	G	A7895872G	MTRR	NM_002454.3(MTRR):c.1676+20A>G	noncoding	Benign
5	7896948	T	C	T7896948C	MTRR	NM_002454.3(MTRR):c.1761T>C:p.Tyr587=	coding	Benign
5	7897078	C	T	C7897078T	MTRR	NM_002454.3(MTRR):c.1783C>T:p.His595Tyr	coding	Benign
5	7897114	G	A	G7897114A	MTRR	NM_002454.3(MTRR):c.1819G>A:p.Val607Ile	coding	Benign/Likely_benign
5	7897170	G	A	G7897170A	MTRR	NM_002454.3(MTRR):c.1875G>A:p.Val625=	coding	Benign
5	7897206	G	A	G7897206A	MTRR	NM_002454.3(MTRR):c.1911G>A:p.Ala637=	coding	Benign
5	7900107	A	G	A7900107G	MTRR	NM_002454.3(MTRR):c.*49A>G	noncoding	Benign
5	7900122	T	C	T7900122C	MTRR	NM_002454.3(MTRR):c.*64T>C	noncoding	Benign
5	7900209	A	G	A7900209G	MTRR	NM_002454.3(MTRR):c.*151A>G	noncoding	Benign
5	7900225	A	G	A7900225G	MTRR	NM_002454.3(MTRR):c.*167A>G	noncoding	Benign
5	7900280	A	G	A7900280G	MTRR	NM_002454.3(MTRR):c.*222A>G	noncoding	Benign
5	7900459	T	C	T7900459C	MTRR	NM_002454.3(MTRR):c.*401T>C	noncoding	Benign
5	7900485	T	C	T7900485C	MTRR	NM_002454.3(MTRR):c.*427T>C	noncoding	Benign
5	7900519	T	C	T7900519C	MTRR	NM_002454.3(MTRR):c.*461T>C	noncoding	Benign
5	7900599	G	A	G7900599A	MTRR	NM_002454.3(MTRR):c.*541G>A	noncoding	Benign
5	7900684	C	G	C7900684G	MTRR	NM_002454.3(MTRR):c.*626C>G	noncoding	Benign
5	7900702	A	G	A7900702G	MTRR	NM_002454.3(MTRR):c.*644A>G	noncoding	Benign
5	7900706	C	A	C7900706A	MTRR	NM_002454.3(MTRR):c.*648C>A	noncoding	Benign
5	7900720	T	A	T7900720A	MTRR	NM_002454.3(MTRR):c.*662T>A	noncoding	Benign
5	7901117	T	C	T7901117C	MTRR	NM_002454.2(MTRR):c.*1059T>C	noncoding	Benign
5	9044475	G	A	G9044475A	SEMA5A	NM_003966.3(SEMA5A):c.3003C>T:p.His1001=	coding	Benign
5	9050465	A	G	A9050465G	SEMA5A	NM_003966.3(SEMA5A):c.2846-8T>C	noncoding	Benign
5	9051865	G	C	G9051865C	SEMA5A	NM_003966.3(SEMA5A):c.2845+8C>G	noncoding	Benign
5	9051901	C	T	C9051901T	SEMA5A	NM_003966.3(SEMA5A):c.2817G>A:p.Pro939=	coding	Benign
5	9052015	C	T	C9052015T	SEMA5A	NM_003966.3(SEMA5A):c.2703G>A:p.Glu901=	coding	Benign
5	9054157	C	T	C9054157T	SEMA5A	NM_003966.3(SEMA5A):c.2619G>A:p.Pro873=	coding	Benign
5	9063029	C	T	C9063029T	SEMA5A	NM_003966.3(SEMA5A):c.2376G>A:p.Ser792=	coding	Benign
5	9063032	C	T	C9063032T	SEMA5A	NM_003966.3(SEMA5A):c.2373G>A:p.Thr791=	coding	Benign
5	9108209	T	C	T9108209C	SEMA5A	NM_003966.3(SEMA5A):c.2004A>G:p.Gln668=	coding	Benign
5	9108242	T	A	T9108242A	SEMA5A	NM_003966.3(SEMA5A):c.1971A>T:p.Thr657=	coding	Benign
5	9122670	G	A	G9122670A	SEMA5A	NM_003966.3(SEMA5A):c.1767C>T:p.Ile589=	coding	Benign
5	9122727	G	A	G9122727A	SEMA5A	NM_003966.3(SEMA5A):c.1710C>T:p.Cys570=	coding	Benign
5	9122766	G	T	G9122766T	SEMA5A	NM_003966.3(SEMA5A):c.1671C>A:p.Gly557=	coding	Benign
5	9154538	C	T	C9154538T	SEMA5A	NM_003966.3(SEMA5A):c.1431G>A:p.Glu477=	coding	Benign
5	9154691	G	A	G9154691A	SEMA5A	NM_003966.3(SEMA5A):c.1278C>T:p.Tyr426=	coding	Benign
5	9190327	C	T	C9190327T	SEMA5A	NM_003966.3(SEMA5A):c.1213G>A:p.Val405Met	coding	Benign
5	9190433	G	A	G9190433A	SEMA5A	NM_003966.3(SEMA5A):c.1107C>T:p.Thr369=	coding	Benign
5	9201963	G	A	G9201963A	SEMA5A	NM_003966.3(SEMA5A):c.924C>T:p.Thr308=	coding	Benign
5	9201978	G	A	G9201978A	SEMA5A	NM_003966.3(SEMA5A):c.909C>T:p.Ile303=	coding	Benign
5	9224699	C	T	C9224699T	SEMA5A	NM_003966.3(SEMA5A):c.621G>A:p.Ala207=	coding	Benign
5	9226890	C	T	C9226890T	SEMA5A	NM_003966.3(SEMA5A):c.411G>A:p.Thr137=	coding	Benign
5	9337760	C	A	C9337760A	SEMA5A	NM_003966.3(SEMA5A):c.177G>T:p.Ser59=	coding	Benign
5	9629611	C	T	C9629611T	TAS2R1	NM_019599.3(TAS2R1):c.422G>A:p.Cys141Tyr	coding	Benign
5	10250318	G	A	G10250318A	CCT5	NM_012073.5(CCT5):c.-23G>A	coding	Benign
5	10250331	T	C	T10250331C	CCT5	NM_012073.5(CCT5):c.-10T>C	coding	Benign
5	10254705	A	G	A10254705G	CCT5	NM_012073.5(CCT5):c.198A>G:p.Gly66=	coding	Benign
5	10255937	C	G	C10255937G	CCT5	NM_012073.5(CCT5):c.332-18C>G	noncoding	Benign
5	10256049	T	C	T10256049C	CCT5	NM_012073.5(CCT5):c.426T>C:p.Arg142=	coding	Benign
5	10256060	A	T	A10256060T	CCT5	NM_012073.5(CCT5):c.437A>T:p.Glu146Val	coding	Benign
5	10258400	G	A	G10258400A	CCT5	NM_012073.5(CCT5):c.738G>A:p.Ala246=	coding	Benign
5	10261625	G	A	G10261625A	CCT5	NM_012073.5(CCT5):c.1059G>A:p.Leu353=	coding	Benign/Likely_benign
5	10262495	G	A	G10262495A	CCT5	NM_012073.5(CCT5):c.1194G>A:p.Ala398=	coding	Benign
5	10262628	C	A	C10262628A	CCT5	NM_012073.5(CCT5):c.1317+10C>A	noncoding	Benign
5	10263166	G	A	G10263166A	CCT5	NM_012073.5(CCT5):c.1350G>A:p.Ala450=	coding	Benign
5	10264850	A	G	A10264850G	CCT5	NM_012073.5(CCT5):c.*67A>G	noncoding	Benign
5	10264964	C	T	C10264964T	CCT5	NM_012073.5(CCT5):c.*181C>T	noncoding	Benign
5	10265103	T	C	T10265103C	CCT5	NM_012073.5(CCT5):c.*320T>C	noncoding	Benign
5	10265165	C	T	C10265165T	CCT5	NM_012073.5(CCT5):c.*382C>T	noncoding	Benign
5	10265166	A	G	A10265166G	CCT5	NM_012073.5(CCT5):c.*383A>G	noncoding	Benign
5	10265270	C	T	C10265270T	CCT5	NM_012073.5(CCT5):c.*487C>T	noncoding	Benign
5	10265296	G	C	G10265296C	CCT5	NM_012073.5(CCT5):c.*513G>C	noncoding	Benign
5	10265376	A	G	A10265376G	CCT5	NM_012073.5(CCT5):c.*593A>G	noncoding	Benign
5	10265453	T	A	T10265453A	CCT5	NM_012073.5(CCT5):c.*670T>A	noncoding	Benign
5	10265607	C	G	C10265607G	CCT5	NM_012073.5(CCT5):c.*824C>G	noncoding	Benign
5	10265639	A	C	A10265639C	CCT5	NM_012073.5(CCT5):c.*856A>C	noncoding	Benign
5	10265649	A	C	A10265649C	CCT5	NM_012073.5(CCT5):c.*866A>C	noncoding	Benign
5	10265955	G	T	G10265955T	CCT5	NM_012073.5(CCT5):c.*1172G>T	noncoding	Benign
5	10266160	C	G	C10266160G	CCT5	NM_012073.5(CCT5):c.*1377C>G	noncoding	Benign
5	10266183	A	G	A10266183G	CCT5	NM_012073.5(CCT5):c.*1400A>G	noncoding	Benign
5	10280617	G	A	G10280617A	CMBL	NM_138809.4(CMBL):c.574C>T:p.Gln192Ter	coding	Benign
5	10282221	A	G	A10282221G	CMBL	NM_138809.4(CMBL):c.534T>C:p.Asn178=	coding	Benign
5	10973669	G	A	G10973669A	CTNND2	NM_001332.4(CTNND2):c.3462C>T:p.Tyr1154=	coding	Benign
5	10973721	G	A	G10973721A	CTNND2	NM_001332.4(CTNND2):c.3418-8C>T	noncoding	Benign
5	11082739	C	T	C11082739T	CTNND2	NM_001332.4(CTNND2):c.2745G>A:p.Ala915=	coding	Benign
5	11082751	C	T	C11082751T	CTNND2	NM_001332.4(CTNND2):c.2733G>A:p.Ala911=	coding	Benign
5	11098753	C	T	C11098753T	CTNND2	NM_001332.4(CTNND2):c.2464-5G>A	noncoding	Benign
5	11098754	G	A	G11098754A	CTNND2	NM_001332.4(CTNND2):c.2464-6C>T	noncoding	Benign
5	11236802	C	T	C11236802T	CTNND2	NM_001332.4(CTNND2):c.1650G>A:p.Pro550=	coding	Benign
5	11397049	C	T	C11397049T	CTNND2	NM_001332.4(CTNND2):c.594G>A:p.Thr198=	coding	Benign
5	11564949	G	A	G11564949A	CTNND2	NM_001332.4(CTNND2):c.282C>T:p.Ser94=	coding	Benign
5	11903810	A	C	A11903810C	CTNND2	NM_001332.4(CTNND2):c.37+7T>G	noncoding	Benign
5	13690393	A	T	A13690393T	DNAH5	NM_001369.2(DNAH5):c.*1591T>A	noncoding	Benign
5	13690936	T	C	T13690936C	DNAH5	NM_001369.2(DNAH5):c.*1048A>G	noncoding	Benign
5	13691209	C	T	C13691209T	DNAH5	NM_001369.2(DNAH5):c.*775G>A	noncoding	Benign
5	13691335	C	G	C13691335G	DNAH5	NM_001369.2(DNAH5):c.*649G>C	noncoding	Benign
5	13692170	A	T	A13692170T	DNAH5	NM_001369.2(DNAH5):c.13724-35T>A	noncoding	Benign
5	13700730	A	G	A13700730G	DNAH5	NM_001369.2(DNAH5):c.13633T>C:p.Trp4545Arg	coding	Pathogenic
5	13701247	T	C	T13701247C	DNAH5	NM_001369.2(DNAH5):c.13491+37A>G	noncoding	Benign
5	13701289	G	A	G13701289A	DNAH5	NM_001369.2(DNAH5):c.13486C>T:p.Arg4496Ter	coding	Pathogenic
5	13701308	C	T	C13701308T	DNAH5	NM_001369.2(DNAH5):c.13467G>A:p.Gln4489=	coding	Benign/Likely_benign
5	13701313	G	T	G13701313T	DNAH5	NM_001369.2(DNAH5):c.13462C>A:p.Pro4488Thr	coding	Benign
5	13701332	C	T	C13701332T	DNAH5	NC_000005.10:g.13701332C>T	coding	Pathogenic
5	13701349	G	A	G13701349A	DNAH5	NM_001369.2(DNAH5):c.13426C>T:p.Arg4476Ter	coding	Pathogenic
5	13701362	C	T	C13701362T	DNAH5	NM_001369.2(DNAH5):c.13413G>A:p.Trp4471Ter	coding	Pathogenic
5	13701416	T	C	T13701416C	DNAH5	NM_001369.2(DNAH5):c.13359A>G:p.Thr4453=	coding	Benign
5	13701427	T	C	T13701427C	DNAH5	NM_001369.2(DNAH5):c.13348A>G:p.Ile4450Val	coding	Benign
5	13701429	C	T	C13701429T	DNAH5	NM_001369.2(DNAH5):c.13346G>A:p.Trp4449Ter	coding	Pathogenic
5	13708107	G	A	G13708107A	DNAH5	NM_001369.2(DNAH5):c.13338+16C>T	noncoding	Benign/Likely_benign
5	13708118	C	T	C13708118T	DNAH5	NM_001369.2(DNAH5):c.13338+5G>A	noncoding	Pathogenic
5	13708130	C	T	C13708130T	DNAH5	NM_001369.2(DNAH5):c.13331G>A:p.Trp4444Ter	coding	Pathogenic
5	13708175	C	T	C13708175T	DNAH5	NM_001369.2(DNAH5):c.13286G>A:p.Arg4429Gln	coding	Benign/Likely_benign
5	13708176	G	A	G13708176A	DNAH5	NM_001369.2(DNAH5):c.13285C>T:p.Arg4429Ter	coding	Pathogenic
5	13708302	G	A	G13708302A	DNAH5	NC_000005.10:g.13708302G>A	coding	Pathogenic
5	13708337	T	G	T13708337G	DNAH5	NM_001369.2(DNAH5):c.13126-2A>C	noncoding	Pathogenic
5	13708374	C	T	C13708374T	DNAH5	NM_001369.2(DNAH5):c.13126-39G>A	noncoding	Benign
5	13714395	A	T	A13714395T	DNAH5	NM_001369.2(DNAH5):c.13125+10T>A	noncoding	Benign/Likely_benign
5	13714459	G	A	G13714459A	DNAH5	NM_001369.2(DNAH5):c.13071C>T:p.Ala4357=	coding	Benign
5	13714468	C	T	C13714468T	DNAH5	NM_001369.2(DNAH5):c.13062G>A:p.Ala4354=	coding	Benign
5	13714557	G	A	G13714557A	DNAH5	NM_001369.2(DNAH5):c.12973C>T:p.Gln4325Ter	coding	Pathogenic
5	13714607	T	C	T13714607C	DNAH5	NM_001369.2(DNAH5):c.12923A>G:p.Tyr4308Cys	coding	Benign/Likely_benign
5	13714621	C	G	C13714621G	DNAH5	NM_001369.2(DNAH5):c.12910-1G>C	coding	Pathogenic
5	13714631	G	A	G13714631A	DNAH5	NM_001369.2(DNAH5):c.12910-11C>T	noncoding	Benign
5	13716583	C	T	C13716583T	DNAH5	NC_000005.10:g.13716583C>T	coding	Pathogenic
5	13716688	A	G	A13716688G	DNAH5	NM_001369.2(DNAH5):c.12708T>C:p.Gly4236=	coding	Benign
5	13717326	C	T	C13717326T	DNAH5	NM_001369.2(DNAH5):c.12694G>A:p.Asp4232Asn	coding	Benign
5	13717362	T	C	T13717362C	DNAH5	NM_001369.2(DNAH5):c.12658A>G:p.Thr4220Ala	coding	Benign
5	13717389	C	A	C13717389A	DNAH5	NM_001369.2(DNAH5):c.12631G>T:p.Glu4211Ter	coding	Pathogenic
5	13717403	C	T	C13717403T	DNAH5	NM_001369.2(DNAH5):c.12617G>A:p.Trp4206Ter	coding	Pathogenic/Likely_pathogenic
5	13717434	G	A	G13717434A	DNAH5	NM_001369.2(DNAH5):c.12586C>T:p.Gln4196Ter	coding	Pathogenic
5	13718886	A	T	A13718886T	DNAH5	NC_000005.10:g.13718886A>T	coding	Pathogenic
5	13718909	G	A	G13718909A	DNAH5	NM_001369.2(DNAH5):c.12472C>T:p.Arg4158Trp	coding	Benign/Likely_benign
5	13718913	T	G	T13718913G	DNAH5	NM_001369.2(DNAH5):c.12468A>C:p.Gly4156=	coding	Benign
5	13718916	T	C	T13718916C	DNAH5	NM_001369.2(DNAH5):c.12465A>G:p.Gln4155=	coding	Benign
5	13718980	G	A	G13718980A	DNAH5	NM_001369.2(DNAH5):c.12401C>T:p.Ala4134Val	coding	Benign
5	13719094	C	T	C13719094T	DNAH5	NM_001369.2(DNAH5):c.12287G>A:p.Trp4096Ter	coding	Pathogenic
5	13719118	A	G	A13719118G	DNAH5	NM_001369.2(DNAH5):c.12280-17T>C	noncoding	Benign
5	13720950	T	C	T13720950C	DNAH5	NM_001369.2(DNAH5):c.12279+50A>G	noncoding	Benign
5	13721014	G	A	G13721014A	DNAH5	NM_001369.2(DNAH5):c.12265C>T:p.Gln4089Ter	coding	Pathogenic/Likely_pathogenic
5	13721172	C	T	C13721172T	DNAH5	NC_000005.10:g.13721172C>T	coding	Pathogenic/Likely_pathogenic
5	13721269	A	G	A13721269G	DNAH5	NM_001369.2(DNAH5):c.12034-24T>C	noncoding	Benign
5	13727500	T	C	T13727500C	DNAH5	NM_001369.2(DNAH5):c.12033+7A>G	noncoding	Benign
5	13727599	C	A	C13727599A	DNAH5	NC_000005.10:g.13727599C>A	coding	Pathogenic
5	13727633	C	T	C13727633T	DNAH5	NM_001369.2(DNAH5):c.11907G>A:p.Trp3969Ter	coding	Pathogenic
5	13729518	G	T	G13729518T	DNAH5	NM_001369.2(DNAH5):c.11804C>A:p.Ser3935Ter	coding	Pathogenic
5	13729605	A	G	A13729605G	DNAH5	NM_001369.2(DNAH5):c.11762-45T>C	noncoding	Benign
5	13735167	G	A	G13735167A	DNAH5	NM_001369.2(DNAH5):c.11725C>T:p.Arg3909Ter	coding	Pathogenic
5	13735783	T	C	T13735783C	DNAH5	NM_001369.2(DNAH5):c.11570+35A>G	noncoding	Benign
5	13735852	G	A	G13735852A	DNAH5	NC_000005.10:g.13735852G>A	coding	Pathogenic
5	13737335	G	A	G13737335A	DNAH5	NM_001369.2(DNAH5):c.11372C>T:p.Thr3791Ile	coding	Benign/Likely_benign
5	13737444	T	A	T13737444A	DNAH5	NC_000005.10:g.13737444T>A	coding	Pathogenic
5	13751262	T	A	T13751262A	DNAH5	NM_001369.2(DNAH5):c.11029-2A>T	noncoding	Pathogenic
5	13752136	T	A	T13752136A	DNAH5	NC_000005.10:g.13752136T>A	coding	Pathogenic
5	13752232	C	A	C13752232A	DNAH5	NM_001369.2(DNAH5):c.10930G>T:p.Gly3644Ter	coding	Pathogenic
5	13752284	C	T	C13752284T	DNAH5	NM_001369.2(DNAH5):c.10878G>A:p.Thr3626=	coding	Benign/Likely_benign
5	13753247	G	A	G13753247A	DNAH5	NM_001369.2(DNAH5):c.10858C>T:p.Arg3620Ter	coding	Pathogenic
5	13753489	C	T	C13753489T	DNAH5	NM_001369.2(DNAH5):c.10616G>A:p.Arg3539His	coding	Pathogenic/Likely_pathogenic
5	13754203	C	G	C13754203G	DNAH5	NM_001369.2(DNAH5):c.10555G>C:p.Gly3519Arg	coding	Pathogenic
5	13754285	C	T	C13754285T	DNAH5	NM_001369.2(DNAH5):c.10473G>A:p.Thr3491=	coding	Benign
5	13754301	A	G	A13754301G	DNAH5	NM_001369.2(DNAH5):c.10457T>C:p.Met3486Thr	coding	Benign
5	13754317	G	A	G13754317A	DNAH5	NM_001369.2(DNAH5):c.10441C>T:p.Arg3481Ter	coding	Pathogenic/Likely_pathogenic
5	13758881	G	A	G13758881A	DNAH5	NM_001369.2(DNAH5):c.10384C>T:p.Gln3462Ter	coding	Pathogenic
5	13758918	G	A	G13758918A	DNAH5	NM_001369.2(DNAH5):c.10347C>T:p.Ala3449=	coding	Benign
5	13762777	C	G	C13762777G	DNAH5	NM_001369.2(DNAH5):c.10226G>C:p.Trp3409Ser	coding	Pathogenic/Likely_pathogenic
5	13762863	T	C	T13762863C	DNAH5	NM_001369.2(DNAH5):c.10140A>G:p.Glu3380=	coding	Benign
5	13762930	G	A	G13762930A	DNAH5	NM_001369.2(DNAH5):c.10102-29C>T	noncoding	Benign
5	13766042	A	G	A13766042G	DNAH5	NM_001369.2(DNAH5):c.10035T>C:p.Cys3345=	coding	Benign/Likely_benign
5	13768959	C	G	C13768959G	DNAH5	NM_001369.2(DNAH5):c.9897+1G>C	noncoding	Pathogenic
5	13769079	G	A	G13769079A	DNAH5	NC_000005.10:g.13769079G>A	coding	Pathogenic
5	13769148	T	A	T13769148A	DNAH5	NM_001369.2(DNAH5):c.9721-12A>T	noncoding	Benign
5	13769148	T	C	T13769148C	DNAH5	NM_001369.2(DNAH5):c.9721-12A>G	noncoding	Benign
5	13769507	G	A	G13769507A	DNAH5	NM_001369.2(DNAH5):c.9714C>T:p.Ala3238=	coding	Benign
5	13769527	G	A	G13769527A	DNAH5	NM_001369.2(DNAH5):c.9694C>T:p.Gln3232Ter	coding	Pathogenic
5	13770820	G	T	G13770820T	DNAH5	NM_001369.2(DNAH5):c.9534C>A:p.Tyr3178Ter	coding	Pathogenic
5	13770832	C	T	C13770832T	DNAH5	NM_001369.2(DNAH5):c.9522G>A:p.Thr3174=	coding	Benign
5	13770852	G	A	G13770852A	DNAH5	NM_001369.2(DNAH5):c.9502C>T:p.Arg3168Ter	coding	Pathogenic
5	13770874	A	T	A13770874T	DNAH5	NM_001369.2(DNAH5):c.9480T>A:p.Cys3160Ter	coding	Pathogenic
5	13776466	G	A	G13776466A	DNAH5	NM_001369.2(DNAH5):c.9346C>T:p.Arg3116Ter	coding	Pathogenic
5	13776577	G	A	G13776577A	DNAH5	NM_001369.2(DNAH5):c.9235C>T:p.Arg3079Ter	coding	Pathogenic
5	13776662	G	A	G13776662A	DNAH5	NM_001369.2(DNAH5):c.9150C>T:p.Ser3050=	coding	Benign/Likely_benign
5	13776688	G	A	G13776688A	DNAH5	NM_001369.2(DNAH5):c.9124C>T:p.Arg3042Ter	coding	Pathogenic
5	13777242	G	T	G13777242T	DNAH5	NC_000005.10:g.13777242G>T	coding	Pathogenic
5	13777309	G	A	G13777309A	DNAH5	NM_001369.2(DNAH5):c.8998C>T:p.Arg3000Ter	coding	Pathogenic
5	13777341	G	C	G13777341C	DNAH5	NC_000005.10:g.13777341G>C	coding	Pathogenic
5	13780882	C	T	C13780882T	DNAH5	NM_001369.2(DNAH5):c.8898G>A:p.Thr2966=	coding	Benign/Likely_benign
5	13780918	C	A	C13780918A	DNAH5	NM_001369.2(DNAH5):c.8862G>T:p.Leu2954=	coding	Benign
5	13788721	G	C	G13788721C	DNAH5	NM_001369.2(DNAH5):c.8642C>G:p.Ala2881Gly	coding	Pathogenic/Likely_pathogenic
5	13788777	C	A	C13788777A	DNAH5	NM_001369.2(DNAH5):c.8586G>T:p.Leu2862Phe	coding	Benign
5	13788835	A	G	A13788835G	DNAH5	NM_001369.2(DNAH5):c.8528T>C:p.Phe2843Ser	coding	Pathogenic
5	13788865	C	T	C13788865T	DNAH5	NM_001369.2(DNAH5):c.8498G>A:p.Arg2833His	coding	Pathogenic
5	13788898	C	T	C13788898T	DNAH5	NM_001369.2(DNAH5):c.8465G>A:p.Trp2822Ter	coding	Pathogenic
5	13788926	A	G	A13788926G	DNAH5	NM_001369.2(DNAH5):c.8449-12T>C	noncoding	Benign
5	13792038	G	A	G13792038A	DNAH5	NM_001369.2(DNAH5):c.8404C>T:p.Gln2802Ter	coding	Pathogenic/Likely_pathogenic
5	13792059	G	A	G13792059A	DNAH5	NM_001369.2(DNAH5):c.8383C>T:p.Arg2795Ter	coding	Pathogenic
5	13792128	G	A	G13792128A	DNAH5	NM_001369.2(DNAH5):c.8314C>T:p.Arg2772Ter	coding	Pathogenic
5	13793572	G	A	G13793572A	DNAH5	NM_001369.2(DNAH5):c.8167C>T:p.Gln2723Ter	coding	Pathogenic
5	13793710	G	A	G13793710A	DNAH5	NM_001369.2(DNAH5):c.8029C>T:p.Arg2677Ter	coding	Pathogenic
5	13794031	G	A	G13794031A	DNAH5	NM_001369.2(DNAH5):c.7915C>T:p.Arg2639Ter	coding	Pathogenic
5	13809020	G	A	G13809020A	DNAH5	NM_001369.2(DNAH5):c.7752+24C>T	noncoding	Benign
5	13809037	G	C	G13809037C	DNAH5	NM_001369.2(DNAH5):c.7752+7C>G	noncoding	Benign
5	13810040	G	A	G13810040A	DNAH5	NM_001369.2(DNAH5):c.7609+19C>T	noncoding	Benign
5	13811666	T	C	T13811666C	DNAH5	NM_001369.2(DNAH5):c.7388A>G:p.Gln2463Arg	coding	Benign
5	13811778	G	A	G13811778A	DNAH5	NC_000005.10:g.13811778G>A	coding	Pathogenic
5	13811780	C	T	C13811780T	DNAH5	NM_001369.2(DNAH5):c.7274G>A:p.Arg2425His	coding	Benign
5	13814573	T	C	T13814573C	DNAH5	NM_001369.2(DNAH5):c.7230+32A>G	noncoding	Benign
5	13814770	A	G	A13814770G	DNAH5	NM_001369.2(DNAH5):c.7065T>C:p.Asp2355=	coding	Benign/Likely_benign
5	13814801	C	T	C13814801T	DNAH5	NM_001369.2(DNAH5):c.7034G>A:p.Trp2345Ter	coding	Pathogenic
5	13814859	A	G	A13814859G	DNAH5	NM_001369.2(DNAH5):c.6989-13T>C	noncoding	Benign
5	13817617	C	T	C13817617T	DNAH5	NM_001369.2(DNAH5):c.6919G>A:p.Val2307Ile	coding	Benign/Likely_benign
5	13817716	T	C	T13817716C	DNAH5	NM_001369.2(DNAH5):c.6842-22A>G	noncoding	Benign
5	13820424	G	A	G13820424A	DNAH5	NM_001369.2(DNAH5):c.6763C>T:p.Arg2255Ter	coding	Pathogenic/Likely_pathogenic
5	13820484	A	C	A13820484C	DNAH5	NM_001369.2(DNAH5):c.6703T>G:p.Leu2235Val	coding	Benign/Likely_benign
5	13820500	C	A	C13820500A	DNAH5	NM_001369.2(DNAH5):c.6688-1G>T	coding	Pathogenic
5	13820547	G	A	G13820547A	DNAH5	NM_001369.2(DNAH5):c.6688-48C>T	noncoding	Benign
5	13823268	T	A	T13823268A	DNAH5	NM_001369.2(DNAH5):c.6682A>T:p.Arg2228Ter	coding	Pathogenic
5	13824179	C	T	C13824179T	DNAH5	NM_001369.2(DNAH5):c.6579+20G>A	noncoding	Benign/Likely_benign
5	13824193	T	C	T13824193C	DNAH5	NM_001369.2(DNAH5):c.6579+6A>G	noncoding	Benign/Likely_benign
5	13829499	G	A	G13829499A	DNAH5	NM_001369.2(DNAH5):c.6444+11C>T	noncoding	Benign
5	13829502	T	C	T13829502C	DNAH5	NM_001369.2(DNAH5):c.6444+8A>G	noncoding	Benign
5	13829650	G	A	G13829650A	DNAH5	NM_001369.2(DNAH5):c.6304C>T:p.Arg2102Cys	coding	Pathogenic/Likely_pathogenic
5	13829690	G	A	G13829690A	DNAH5	NM_001369.2(DNAH5):c.6264C>T:p.Ala2088=	coding	Benign
5	13830026	C	T	C13830026T	DNAH5	NM_001369.2(DNAH5):c.6249G>A:p.Met2083Ile	coding	Pathogenic/Likely_pathogenic
5	13830217	C	T	C13830217T	DNAH5	NM_001369.2(DNAH5):c.6062-4G>A	noncoding	Benign/Likely_benign
5	13830587	T	C	T13830587C	DNAH5	NM_001369.2(DNAH5):c.6061+10A>G	noncoding	Benign/Likely_benign
5	13830619	T	G	T13830619G	DNAH5	NM_001369.2(DNAH5):c.6039A>C:p.Arg2013=	coding	Benign/Likely_benign
5	13830621	G	A	G13830621A	DNAH5	NM_001369.2(DNAH5):c.6037C>T:p.Arg2013Ter	coding	Pathogenic/Likely_pathogenic
5	13830675	G	A	G13830675A	DNAH5	NM_001369.2(DNAH5):c.5983C>T:p.Arg1995Ter	coding	Pathogenic
5	13839530	T	C	T13839530C	DNAH5	NM_001369.2(DNAH5):c.5710-2A>G	noncoding	Pathogenic
5	13840888	C	A	C13840888A	DNAH5	NM_001369.2(DNAH5):c.5709+18G>T	noncoding	Benign
5	13840908	G	A	G13840908A	DNAH5	NM_001369.2(DNAH5):c.5707C>T:p.Leu1903=	coding	Benign
5	13840957	G	A	G13840957A	DNAH5	NM_001369.2(DNAH5):c.5658C>T:p.Tyr1886=	coding	Benign/Likely_benign
5	13840957	G	C	G13840957C	DNAH5	NC_000005.10:g.13840957G>C	coding	Pathogenic
5	13840968	G	A	G13840968A	DNAH5	NM_001369.2(DNAH5):c.5647C>T:p.Arg1883Ter	coding	Pathogenic
5	13841058	T	A	T13841058A	DNAH5	NM_001369.2(DNAH5):c.5557A>T:p.Lys1853Ter	coding	Pathogenic
5	13841675	A	G	A13841675G	DNAH5	NM_001369.2(DNAH5):c.5484+17T>C	noncoding	Benign
5	13841694	G	A	G13841694A	DNAH5	NM_001369.2(DNAH5):c.5482C>T:p.Gln1828Ter	coding	Pathogenic
5	13841886	A	G	A13841886G	DNAH5	NM_001369.2(DNAH5):c.5290T>C:p.Ser1764Pro	coding	Pathogenic
5	13841895	G	A	G13841895A	DNAH5	NM_001369.2(DNAH5):c.5281C>T:p.Arg1761Ter	coding	Pathogenic
5	13841943	A	T	A13841943T	DNAH5	NM_001369.2(DNAH5):c.5272-39T>A	noncoding	Benign
5	13844842	C	A	C13844842A	DNAH5	NM_001369.2(DNAH5):c.5266G>T:p.Glu1756Ter	coding	Pathogenic
5	13844884	A	G	A13844884G	DNAH5	NM_001369.2(DNAH5):c.5224T>C:p.Leu1742=	coding	Benign/Likely_benign
5	13844910	G	T	G13844910T	DNAH5	NM_001369.2(DNAH5):c.5198C>A:p.Ser1733Ter	coding	Pathogenic
5	13844931	A	G	A13844931G	DNAH5	NM_001369.2(DNAH5):c.5177T>C:p.Leu1726Pro	coding	Pathogenic/Likely_pathogenic
5	13844936	G	A	G13844936A	DNAH5	NM_001369.2(DNAH5):c.5172C>T:p.Ala1724=	coding	Benign
5	13844946	G	C	G13844946C	DNAH5	NM_001369.2(DNAH5):c.5162C>G:p.Ser1721Ter	coding	Pathogenic
5	13844961	C	G	C13844961G	DNAH5	NC_000005.10:g.13844961C>G	coding	Pathogenic
5	13844977	G	A	G13844977A	DNAH5	NC_000005.10:g.13844977G>A	coding	Pathogenic
5	13844990	G	C	G13844990C	DNAH5	NM_001369.2(DNAH5):c.5118C>G:p.Tyr1706Ter	coding	Pathogenic
5	13844997	C	A	C13844997A	DNAH5	NM_001369.2(DNAH5):c.5115-4G>T	noncoding	Benign/Likely_benign
5	13844998	A	G	A13844998G	DNAH5	NM_001369.2(DNAH5):c.5115-5T>C	noncoding	Benign
5	13845042	C	G	C13845042G	DNAH5	NM_001369.2(DNAH5):c.5115-49G>C	noncoding	Benign
5	13850622	C	A	C13850622A	DNAH5	NM_001369.2(DNAH5):c.5114+30G>T	noncoding	Benign
5	13850630	T	A	T13850630A	DNAH5	NM_001369.2(DNAH5):c.5114+22A>T	noncoding	Benign
5	13850641	A	G	A13850641G	DNAH5	NM_001369.2(DNAH5):c.5114+11T>C	noncoding	Benign
5	13850651	C	G	C13850651G	DNAH5	NM_001369.2(DNAH5):c.5114+1G>C	noncoding	Pathogenic
5	13850707	G	A	G13850707A	DNAH5	NM_001369.2(DNAH5):c.5059C>T:p.Gln1687Ter	coding	Pathogenic
5	13850729	A	T	A13850729T	DNAH5	NM_001369.2(DNAH5):c.5037T>A:p.Cys1679Ter	coding	Pathogenic
5	13859566	C	T	C13859566T	DNAH5	NM_001369.2(DNAH5):c.4836G>A:p.Val1612=	coding	Benign/Likely_benign
5	13859595	G	T	G13859595T	DNAH5	NM_001369.2(DNAH5):c.4807C>A:p.Pro1603Thr	coding	Benign/Likely_benign
5	13859606	C	G	C13859606G	DNAH5	NM_001369.2(DNAH5):c.4797-1G>C	coding	Pathogenic
5	13859634	G	T	G13859634T	DNAH5	NM_001369.2(DNAH5):c.4797-29C>A	noncoding	Benign
5	13862507	C	T	C13862507T	DNAH5	NM_001369.2(DNAH5):c.4796+41G>A	noncoding	Benign
5	13864562	G	A	G13864562A	DNAH5	NM_001369.2(DNAH5):c.4431C>T:p.Ser1477=	coding	Benign
5	13864619	C	A	C13864619A	DNAH5	NM_001369.2(DNAH5):c.4374G>T:p.Arg1458=	coding	Benign
5	13864620	C	T	C13864620T	DNAH5	NM_001369.2(DNAH5):c.4373G>A:p.Arg1458Gln	coding	Benign/Likely_benign
5	13864633	G	A	G13864633A	DNAH5	NM_001369.2(DNAH5):c.4360C>T:p.Arg1454Ter	coding	Pathogenic
5	13865675	G	A	G13865675A	DNAH5	NM_001369.2(DNAH5):c.4348C>T:p.Gln1450Ter	coding	Pathogenic
5	13865692	T	C	T13865692C	DNAH5	NM_001369.2(DNAH5):c.4331A>G:p.Asn1444Ser	coding	Benign
5	13865769	C	T	C13865769T	DNAH5	NM_001369.2(DNAH5):c.4254G>A:p.Leu1418=	coding	Benign/Likely_benign
5	13865871	T	C	T13865871C	DNAH5	NM_001369.2(DNAH5):c.4152A>G:p.Thr1384=	coding	Benign
5	13865945	A	C	A13865945C	DNAH5	NM_001369.2(DNAH5):c.4117-39T>G	noncoding	Benign
5	13866175	A	G	A13866175G	DNAH5	NM_001369.2(DNAH5):c.4116+45T>C	noncoding	Benign
5	13867742	G	A	G13867742A	DNAH5	NM_001369.2(DNAH5):c.4053+32C>T	noncoding	Benign
5	13867840	T	C	T13867840C	DNAH5	NM_001369.2(DNAH5):c.3987A>G:p.Lys1329=	coding	Benign/Likely_benign
5	13867878	G	A	G13867878A	DNAH5	NM_001369.2(DNAH5):c.3949C>T:p.Gln1317Ter	coding	Pathogenic
5	13867884	C	A	C13867884A	DNAH5	NM_001369.2(DNAH5):c.3943G>T:p.Glu1315Ter	coding	Pathogenic
5	13867915	A	C	A13867915C	DNAH5	NC_000005.10:g.13867915A>C	coding	Pathogenic
5	13870727	G	A	G13870727A	DNAH5	NM_001369.2(DNAH5):c.3834+40C>T	noncoding	Benign
5	13871544	A	G	A13871544G	DNAH5	NM_001369.2(DNAH5):c.3598+20T>C	noncoding	Benign
5	13871562	A	G	A13871562G	DNAH5	NM_001369.2(DNAH5):c.3598+2T>C	noncoding	Pathogenic
5	13871678	G	A	G13871678A	DNAH5	NM_001369.2(DNAH5):c.3484C>T:p.Gln1162Ter	coding	Pathogenic
5	13876717	A	C	A13876717C	DNAH5	NM_001369.2(DNAH5):c.3363T>G:p.Ser1121=	coding	Benign
5	13876779	C	T	C13876779T	DNAH5	NM_001369.2(DNAH5):c.3301G>A:p.Val1101Met	coding	Benign/Likely_benign
5	13882731	G	A	G13882731A	DNAH5	NC_000005.10:g.13882731G>A	coding	Pathogenic
5	13882732	A	G	A13882732G	DNAH5	NM_001369.2(DNAH5):c.3258T>C:p.Leu1086=	coding	Benign
5	13882749	T	C	T13882749C	DNAH5	NM_001369.2(DNAH5):c.3241A>G:p.Met1081Val	coding	Benign/Likely_benign
5	13882849	C	T	C13882849T	DNAH5	NM_001369.2(DNAH5):c.3175-34G>A	noncoding	Benign
5	13882939	C	T	C13882939T	DNAH5	NM_001369.2(DNAH5):c.3139G>A:p.Gly1047Arg	coding	Pathogenic
5	13882966	C	T	C13882966T	DNAH5	NM_001369.2(DNAH5):c.3112G>A:p.Val1038Met	coding	Benign/Likely_benign
5	13883057	C	A	C13883057A	DNAH5	NM_001369.2(DNAH5):c.3021G>T:p.Leu1007Phe	coding	Benign/Likely_benign
5	13883062	T	C	T13883062C	DNAH5	NM_001369.2(DNAH5):c.3016A>G:p.Ser1006Gly	coding	Benign/Likely_benign
5	13883096	T	G	T13883096G	DNAH5	NM_001369.2(DNAH5):c.2984-2A>C	noncoding	Pathogenic
5	13885081	T	A	T13885081A	DNAH5	NM_001369.2(DNAH5):c.2891A>T:p.His964Leu	coding	Benign
5	13885973	C	A	C13885973A	DNAH5	NM_001369.2(DNAH5):c.2734G>T:p.Glu912Ter	coding	Pathogenic
5	13885997	C	A	C13885997A	DNAH5	NM_001369.2(DNAH5):c.2710G>T:p.Glu904Ter	coding	Pathogenic
5	13886024	C	T	C13886024T	DNAH5	NM_001369.2(DNAH5):c.2683G>A:p.Glu895Lys	coding	Benign/Likely_benign
5	13891020	G	A	G13891020A	DNAH5	NM_001369.2(DNAH5):c.2533C>T:p.Gln845Ter	coding	Pathogenic
5	13894726	G	A	G13894726A	DNAH5	NM_001369.2(DNAH5):c.2355C>T:p.Leu785=	coding	Benign/Likely_benign
5	13894785	T	A	T13894785A	DNAH5	NM_001369.2(DNAH5):c.2296A>T:p.Ile766Leu	coding	Benign
5	13900212	G	T	G13900212T	DNAH5	NM_001369.2(DNAH5):c.2253C>A:p.Asn751Lys	coding	Benign
5	13900236	A	G	A13900236G	DNAH5	NM_001369.2(DNAH5):c.2229T>C:p.Asp743=	coding	Benign
5	13900241	G	A	G13900241A	DNAH5	NM_001369.2(DNAH5):c.2224C>T:p.Arg742Ter	coding	Pathogenic/Likely_pathogenic
5	13900435	T	G	T13900435G	DNAH5	NM_001369.2(DNAH5):c.2053-23A>C	noncoding	Benign
5	13901254	G	A	G13901254A	DNAH5	NC_000005.10:g.13901254G>A	coding	Pathogenic
5	13901389	G	A	G13901389A	DNAH5	NM_001369.2(DNAH5):c.1915C>T:p.Gln639Ter	coding	Pathogenic
5	13901446	G	T	G13901446T	DNAH5	NM_001369.2(DNAH5):c.1858C>A:p.Gln620Lys	coding	Benign/Likely_benign
5	13901452	G	A	G13901452A	DNAH5	NM_001369.2(DNAH5):c.1852C>T:p.Arg618Ter	coding	Pathogenic
5	13901476	G	A	G13901476A	DNAH5	NM_001369.2(DNAH5):c.1828C>T:p.Gln610Ter	coding	Pathogenic
5	13901532	A	C	A13901532C	DNAH5	NM_001369.2(DNAH5):c.1772T>G:p.Leu591Arg	coding	Benign
5	13902111	T	C	T13902111C	DNAH5	NM_001369.2(DNAH5):c.1672A>G:p.Thr558Ala	coding	Benign
5	13902136	G	C	G13902136C	DNAH5	NM_001369.2(DNAH5):c.1647C>G:p.Asn549Lys	coding	Benign/Likely_benign
5	13911399	G	A	G13911399A	DNAH5	NM_001369.2(DNAH5):c.1631C>T:p.Thr544Ile	coding	Benign/Likely_benign
5	13911419	G	C	G13911419C	DNAH5	NM_001369.2(DNAH5):c.1611C>G:p.Tyr537Ter	coding	Pathogenic
5	13913776	A	G	A13913776G	DNAH5	NM_001369.2(DNAH5):c.1503T>C:p.Ile501=	coding	Benign
5	13913803	C	T	C13913803T	DNAH5	NM_001369.2(DNAH5):c.1476G>A:p.Thr492=	coding	Benign
5	13913847	G	A	G13913847A	DNAH5	NM_001369.2(DNAH5):c.1432C>T:p.Arg478Ter	coding	Pathogenic
5	13913884	G	A	G13913884A	DNAH5	NM_001369.2(DNAH5):c.1395C>T:p.Ser465=	coding	Benign
5	13913950	C	T	C13913950T	DNAH5	NM_001369.2(DNAH5):c.1329G>A:p.Gln443=	coding	Benign
5	13914666	G	T	G13914666T	DNAH5	NM_001369.2(DNAH5):c.1198-24C>A	noncoding	Benign
5	13914687	T	C	T13914687C	DNAH5	NM_001369.2(DNAH5):c.1198-45A>G	noncoding	Benign
5	13916319	T	C	T13916319C	DNAH5	NM_001369.2(DNAH5):c.1197+29A>G	noncoding	Benign
5	13916463	A	G	A13916463G	DNAH5	NM_001369.2(DNAH5):c.1090-8T>C	noncoding	Benign/Likely_benign
5	13917142	C	T	C13917142T	DNAH5	NM_001369.2(DNAH5):c.1089+1G>A	noncoding	Pathogenic
5	13917178	C	A	C13917178A	DNAH5	NM_001369.2(DNAH5):c.1054G>T:p.Glu352Ter	coding	Pathogenic
5	13917235	G	A	G13917235A	DNAH5	NM_001369.2(DNAH5):c.997C>T:p.Arg333Ter	coding	Pathogenic
5	13917287	G	A	G13917287A	DNAH5	NM_001369.2(DNAH5):c.976-31C>T	noncoding	Benign
5	13919146	T	G	T13919146G	DNAH5	NM_001369.2(DNAH5):c.975+30A>C	noncoding	Benign
5	13919257	G	C	G13919257C	DNAH5	NM_001369.2(DNAH5):c.894C>G:p.Asn298Lys	coding	Benign/Likely_benign
5	13919265	T	A	T13919265A	DNAH5	NC_000005.10:g.13919265T>A	coding	Pathogenic
5	13920608	G	A	G13920608A	DNAH5	NC_000005.10:g.13920608G>A	coding	Pathogenic
5	13922208	C	A	C13922208A	DNAH5	NM_001369.2(DNAH5):c.559G>T:p.Glu187Ter	coding	Pathogenic
5	13923358	A	G	A13923358G	DNAH5	NM_001369.2(DNAH5):c.360T>C:p.Asp120=	coding	Benign
5	13923369	C	A	C13923369A	DNAH5	NM_001369.2(DNAH5):c.349G>T:p.Glu117Ter	coding	Pathogenic
5	13923418	C	G	C13923418G	DNAH5	NM_001369.2(DNAH5):c.300G>C:p.Gly100=	coding	Benign
5	13928100	C	A	C13928100A	DNAH5	NM_001369.2(DNAH5):c.271G>T:p.Glu91Ter	coding	Pathogenic
5	13928119	A	C	A13928119C	DNAH5	NM_001369.2(DNAH5):c.252T>G:p.Tyr84Ter	coding	Pathogenic
5	13931096	G	C	G13931096C	DNAH5	NM_001369.2(DNAH5):c.192+14C>G	noncoding	Benign
5	13931214	G	T	G13931214T	DNAH5	NM_001369.2(DNAH5):c.88C>A:p.Arg30=	coding	Benign
5	13931231	C	T	C13931231T	DNAH5	NM_001369.2(DNAH5):c.71G>A:p.Gly24Glu	coding	Benign
5	13931257	A	G	A13931257G	DNAH5	NM_001369.2(DNAH5):c.58-13T>C	noncoding	Benign
5	13944393	G	A	G13944393A	DNAH5	NM_001369.2(DNAH5):c.46C>T:p.Arg16Ter	coding	Pathogenic
5	13944403	A	C	A13944403C	DNAH5	NM_001369.2(DNAH5):c.36T>G:p.His12Gln	coding	Benign
5	14143759	G	A	G14143759A	TRIO	NM_007118.4(TRIO):c.34G>A:p.Ala12Thr	coding	Benign
5	14270838	C	T	C14270838T	TRIO	NM_007118.4(TRIO):c.171C>T:p.Asn57=	coding	Benign
5	14280439	A	G	A14280439G	TRIO	NM_007118.4(TRIO):c.347+3A>G	noncoding	Benign
5	14290733	A	G	A14290733G	TRIO	NM_007118.4(TRIO):c.558A>G:p.Leu186=	coding	Benign
5	14290809	G	T	G14290809T	TRIO	NM_007118.4(TRIO):c.634G>T:p.Glu212Ter	coding	Pathogenic
5	14290824	A	T	A14290824T	TRIO	NM_007118.4(TRIO):c.649A>T:p.Arg217Ter	coding	Pathogenic
5	14293005	C	T	C14293005T	TRIO	NM_007118.4(TRIO):c.1054-7C>T	noncoding	Benign
5	14293093	G	T	G14293093T	TRIO	NM_007118.4(TRIO):c.1135G>T:p.Glu379Ter	coding	Pathogenic
5	14297074	C	T	C14297074T	TRIO	NM_007118.4(TRIO):c.1179C>T:p.Asn393=	coding	Benign
5	14297104	G	A	G14297104A	TRIO	NM_007118.4(TRIO):c.1209G>A:p.Ser403=	coding	Benign
5	14359499	C	T	C14359499T	TRIO	NM_007118.4(TRIO):c.2359C>T:p.Gln787Ter	coding	Pathogenic
5	14363754	G	A	G14363754A	TRIO	NM_007118.4(TRIO):c.2414G>A:p.Trp805Ter	coding	Pathogenic
5	14363820	G	A	G14363820A	TRIO	NM_007118.4(TRIO):c.2480G>A:p.Arg827His	coding	Benign
5	14363923	C	T	C14363923T	TRIO	NM_007118.4(TRIO):c.2583C>T:p.Ala861=	coding	Benign
5	14364641	T	C	T14364641C	TRIO	NM_007118.4(TRIO):c.2588-9T>C	noncoding	Benign
5	14366916	C	G	C14366916G	TRIO	NM_007118.4(TRIO):c.2811C>G:p.Ala937=	coding	Benign
5	14368722	C	T	C14368722T	TRIO	NM_007118.4(TRIO):c.2889C>T:p.Ser963=	coding	Benign
5	14368761	G	A	G14368761A	TRIO	NM_007118.4(TRIO):c.2928G>A:p.Gln976=	coding	Benign
5	14368820	G	A	G14368820A	TRIO	NM_007118.4(TRIO):c.2987G>A:p.Trp996Ter	coding	Pathogenic
5	14369364	C	T	C14369364T	TRIO	NM_007118.4(TRIO):c.3067-10C>T	noncoding	Benign
5	14369370	A	T	A14369370T	TRIO	NM_007118.4(TRIO):c.3067-4A>T	noncoding	Benign
5	14369426	G	A	G14369426A	TRIO	NM_007118.4(TRIO):c.3119G>A:p.Trp1040Ter	coding	Pathogenic
5	14374244	C	G	C14374244G	TRIO	NM_007118.4(TRIO):c.3232C>G:p.Arg1078Gly	coding	Pathogenic
5	14374245	G	A	G14374245A	TRIO	NM_007118.4(TRIO):c.3233G>A:p.Arg1078Gln	coding	Pathogenic
5	14374251	A	T	A14374251T	TRIO	NM_007118.4(TRIO):c.3239A>T:p.Asn1080Ile	coding	Pathogenic
5	14374288	C	T	C14374288T	TRIO	NM_007118.4(TRIO):c.3276C>T:p.Ser1092=	coding	Benign
5	14387434	G	A	G14387434A	TRIO	NM_007118.4(TRIO):c.3571-4G>A	noncoding	Benign
5	14387506	T	C	T14387506C	TRIO	NM_007118.4(TRIO):c.3639T>C:p.His1213=	coding	Benign
5	14388626	G	A	G14388626A	TRIO	NM_007118.4(TRIO):c.3895G>A:p.Glu1299Lys	coding	Pathogenic
5	14390300	G	A	G14390300A	TRIO	NM_007118.4(TRIO):c.4128G>A:p.Trp1376Ter	coding	Pathogenic
5	14394102	G	A	G14394102A	TRIO	NM_007118.4(TRIO):c.4283G>A:p.Arg1428Gln	coding	Pathogenic
5	14394111	A	T	A14394111T	TRIO	NM_007118.4(TRIO):c.4292A>T:p.Lys1431Met	coding	Pathogenic
5	14397112	C	A	C14397112A	TRIO	NM_007118.4(TRIO):c.4381C>A:p.Pro1461Thr	coding	Pathogenic
5	14397113	C	T	C14397113T	TRIO	NM_007118.4(TRIO):c.4382C>T:p.Pro1461Leu	coding	Pathogenic/Likely_pathogenic
5	14397137	A	G	A14397137G	TRIO	NM_007118.4(TRIO):c.4406A>G:p.His1469Arg	coding	Pathogenic
5	14405877	G	A	G14405877A	TRIO	NM_007118.4(TRIO):c.4746G>A:p.Trp1582Ter	coding	Pathogenic
5	14405968	G	A	G14405968A	TRIO	NM_007118.4(TRIO):c.4837G>A:p.Ala1613Thr	coding	Benign
5	14461143	G	A	G14461143A	TRIO	NM_007118.4(TRIO):c.5328G>A:p.Trp1776Ter	coding	Pathogenic
5	14465646	G	T	G14465646T	TRIO	NM_007118.4(TRIO):c.5763+6G>T	noncoding	Benign
5	14482770	C	A	C14482770A	TRIO	NM_007118.4(TRIO):c.6654C>A:p.Ile2218=	coding	Benign
5	14485136	C	T	C14485136T	TRIO	NM_007118.4(TRIO):c.6725C>T:p.Thr2242Met	coding	Benign
5	14487516	C	T	C14487516T	TRIO	NM_007118.4(TRIO):c.6888C>T:p.Gly2296=	coding	Benign
5	14487743	C	T	C14487743T	TRIO	NM_007118.4(TRIO):c.7115C>T:p.Pro2372Leu	coding	Benign
5	14487995	C	T	C14487995T	TRIO	NM_007118.4(TRIO):c.7367C>T:p.Pro2456Leu	coding	Benign
5	14488019	C	T	C14488019T	TRIO	NM_007118.4(TRIO):c.7391C>T:p.Ala2464Val	coding	Benign
5	14488029	T	C	T14488029C	TRIO	NM_007118.4(TRIO):c.7401T>C:p.Ser2467=	coding	Benign
5	14492734	C	T	C14492734T	TRIO	NM_007118.4(TRIO):c.7800C>T:p.Pro2600=	coding	Benign
5	14498145	G	A	G14498145A	TRIO	NM_007118.4(TRIO):c.8104G>A:p.Val2702Ile	coding	Benign
5	14498160	C	T	C14498160T	TRIO	NM_007118.4(TRIO):c.8119C>T:p.Arg2707Ter	coding	Pathogenic
5	14498524	T	C	T14498524C	TRIO	NM_007118.4(TRIO):c.8216T>C:p.Leu2739Pro	coding	Benign
5	14498608	C	T	C14498608T	TRIO	NM_007118.4(TRIO):c.8300C>T:p.Ser2767Leu	coding	Benign
5	14504428	A	G	A14504428G	TRIO	NM_007118.4(TRIO):c.8447A>G:p.Lys2816Arg	coding	Benign
5	14507959	A	G	A14507959G	TRIO	NM_007118.4(TRIO):c.8831A>G:p.Asn2944Ser	coding	Benign
5	14508047	G	A	G14508047A	TRIO	NM_007118.4(TRIO):c.8919G>A:p.Ser2973=	coding	Benign
5	14508238	A	T	A14508238T	TRIO	NM_007118.4(TRIO):c.9110A>T:p.Lys3037Met	coding	Benign/Likely_benign
5	14508375	C	T	C14508375T	TRIO	NM_007118.4(TRIO):c.9247C>T:p.Arg3083Cys	coding	Benign
5	14681484	G	T	G14681484T	OTULIN	NM_138348.6(OTULIN):c.345G>T:p.Gln115His	coding	Benign
5	14681602	A	T	A14681602T	OTULIN	NM_138348.6(OTULIN):c.463A>T:p.Met155Leu	coding	Benign
5	14690175	A	G	A14690175G	OTULIN	NM_138348.6(OTULIN):c.731A>G:p.Tyr244Cys	coding	Pathogenic
5	14690259	T	C	T14690259C	OTULIN	NM_138348.6(OTULIN):c.815T>C:p.Leu272Pro	coding	Pathogenic
5	14692874	C	T	C14692874T	OTULIN	NM_138348.6(OTULIN):c.885C>T:p.Ala295=	coding	Benign
5	14692921	A	G	A14692921G	OTULIN	NM_138348.6(OTULIN):c.932A>G:p.Asn311Ser	coding	Benign
5	14692985	C	G	C14692985G	OTULIN	NM_138348.6(OTULIN):c.996C>G:p.Leu332=	coding	Benign
5	14704811	C	G	C14704811G	ANKH	NM_054027.6(ANKH):c.*6386G>C	noncoding	Benign
5	14704971	C	T	C14704971T	ANKH	NM_054027.6(ANKH):c.*6226G>A	noncoding	Benign
5	14705034	T	C	T14705034C	ANKH	NM_054027.6(ANKH):c.*6163A>G	noncoding	Benign
5	14705302	G	T	G14705302T	ANKH	NM_054027.6(ANKH):c.*5895C>A	noncoding	Benign
5	14705429	A	G	A14705429G	ANKH	NM_054027.6(ANKH):c.*5768T>C	noncoding	Benign
5	14705438	C	G	C14705438G	ANKH	NM_054027.6(ANKH):c.*5759G>C	noncoding	Benign
5	14705535	G	A	G14705535A	ANKH	NM_054027.6(ANKH):c.*5662C>T	noncoding	Benign
5	14705556	T	C	T14705556C	ANKH	NM_054027.6(ANKH):c.*5641A>G	noncoding	Benign
5	14705679	G	A	G14705679A	ANKH	NM_054027.6(ANKH):c.*5518C>T	noncoding	Benign
5	14705738	G	A	G14705738A	ANKH	NM_054027.6(ANKH):c.*5459C>T	noncoding	Benign
5	14706525	C	T	C14706525T	ANKH	NM_054027.6(ANKH):c.*4672G>A	noncoding	Benign
5	14706573	T	G	T14706573G	ANKH	NM_054027.6(ANKH):c.*4624A>C	noncoding	Benign
5	14706684	C	T	C14706684T	ANKH	NM_054027.6(ANKH):c.*4513G>A	noncoding	Benign
5	14706769	A	G	A14706769G	ANKH	NM_054027.6(ANKH):c.*4428T>C	noncoding	Benign
5	14706846	G	A	G14706846A	ANKH	NM_054027.6(ANKH):c.*4351C>T	noncoding	Benign
5	14706929	G	T	G14706929T	ANKH	NM_054027.6(ANKH):c.*4268C>A	noncoding	Benign
5	14706946	A	G	A14706946G	ANKH	NM_054027.6(ANKH):c.*4251T>C	noncoding	Benign
5	14706953	A	T	A14706953T	ANKH	NM_054027.6(ANKH):c.*4244T>A	noncoding	Benign
5	14706978	A	G	A14706978G	ANKH	NM_054027.6(ANKH):c.*4219T>C	noncoding	Benign
5	14707015	A	C	A14707015C	ANKH	NM_054027.6(ANKH):c.*4182T>G	noncoding	Benign
5	14707269	G	A	G14707269A	ANKH	NM_054027.6(ANKH):c.*3928C>T	noncoding	Benign
5	14707297	A	G	A14707297G	ANKH	NM_054027.6(ANKH):c.*3900T>C	noncoding	Benign
5	14707298	A	G	A14707298G	ANKH	NM_054027.6(ANKH):c.*3899T>C	noncoding	Benign
5	14707491	C	T	C14707491T	ANKH	NM_054027.6(ANKH):c.*3706G>A	noncoding	Benign
5	14707499	A	T	A14707499T	ANKH	NM_054027.6(ANKH):c.*3698T>A	noncoding	Benign
5	14707569	A	G	A14707569G	ANKH	NM_054027.6(ANKH):c.*3628T>C	noncoding	Benign
5	14707570	C	T	C14707570T	ANKH	NM_054027.6(ANKH):c.*3627G>A	noncoding	Benign
5	14707654	C	A	C14707654A	ANKH	NM_054027.6(ANKH):c.*3543G>T	noncoding	Benign
5	14707777	A	G	A14707777G	ANKH	NM_054027.6(ANKH):c.*3420T>C	noncoding	Benign
5	14708483	A	G	A14708483G	ANKH	NM_054027.6(ANKH):c.*2714T>C	noncoding	Benign
5	14708498	C	G	C14708498G	ANKH	NM_054027.6(ANKH):c.*2699G>C	noncoding	Benign
5	14708654	C	G	C14708654G	ANKH	NM_054027.6(ANKH):c.*2543G>C	noncoding	Benign
5	14708686	G	A	G14708686A	ANKH	NM_054027.6(ANKH):c.*2511C>T	noncoding	Benign
5	14708805	C	A	C14708805A	ANKH	NM_054027.6(ANKH):c.*2392G>T	noncoding	Benign
5	14709209	G	C	G14709209C	ANKH	NM_054027.6(ANKH):c.*1988C>G	noncoding	Benign
5	14709383	C	T	C14709383T	ANKH	NM_054027.6(ANKH):c.*1814G>A	noncoding	Benign
5	14709486	G	T	G14709486T	ANKH	NM_054027.6(ANKH):c.*1711C>A	noncoding	Benign
5	14709926	T	G	T14709926G	ANKH	NM_054027.6(ANKH):c.*1271A>C	noncoding	Benign
5	14710005	C	G	C14710005G	ANKH	NM_054027.6(ANKH):c.*1192G>C	noncoding	Benign
5	14710189	G	C	G14710189C	ANKH	NM_054027.6(ANKH):c.*1008C>G	noncoding	Benign
5	14710272	A	G	A14710272G	ANKH	NM_054027.6(ANKH):c.*925T>C	noncoding	Benign
5	14710283	T	G	T14710283G	ANKH	NM_054027.6(ANKH):c.*914A>C	noncoding	Benign
5	14710357	C	G	C14710357G	ANKH	NM_054027.6(ANKH):c.*840G>C	noncoding	Benign
5	14710366	A	G	A14710366G	ANKH	NM_054027.6(ANKH):c.*831T>C	noncoding	Benign
5	14710378	A	C	A14710378C	ANKH	NM_054027.6(ANKH):c.*819T>G	noncoding	Benign
5	14710473	T	G	T14710473G	ANKH	NM_054027.6(ANKH):c.*724A>C	noncoding	Benign
5	14710485	C	G	C14710485G	ANKH	NM_054027.6(ANKH):c.*712G>C	noncoding	Benign
5	14710491	G	A	G14710491A	ANKH	NM_054027.6(ANKH):c.*706C>T	noncoding	Benign
5	14710617	G	A	G14710617A	ANKH	NM_054027.6(ANKH):c.*580C>T	noncoding	Benign
5	14710636	G	A	G14710636A	ANKH	NM_054027.6(ANKH):c.*561C>T	noncoding	Benign
5	14710687	G	A	G14710687A	ANKH	NM_054027.6(ANKH):c.*510C>T	noncoding	Benign
5	14710764	C	T	C14710764T	ANKH	NM_054027.6(ANKH):c.*433G>A	noncoding	Benign
5	14710848	T	C	T14710848C	ANKH	NM_054027.6(ANKH):c.*349A>G	noncoding	Benign
5	14710914	G	A	G14710914A	ANKH	NM_054027.6(ANKH):c.*283C>T	noncoding	Benign
5	14711145	C	T	C14711145T	ANKH	NM_054027.6(ANKH):c.*52G>A	noncoding	Benign
5	14711166	T	C	T14711166C	ANKH	NM_054027.6(ANKH):c.*31A>G	noncoding	Benign
5	14711186	C	T	C14711186T	ANKH	NM_054027.6(ANKH):c.*11G>A	noncoding	Benign
5	14711223	C	T	C14711223T	ANKH	NM_054027.6(ANKH):c.1453G>A:p.Val485Met	coding	Benign
5	14712861	G	A	G14712861A	ANKH	NM_054027.6(ANKH):c.1365+13C>T	coding	Benign
5	14712865	C	T	C14712865T	ANKH	NM_054027.6(ANKH):c.1365+9G>A	coding	Benign
5	14712882	G	A	G14712882A	ANKH	NM_054027.6(ANKH):c.1357C>T:p.Arg453Trp	coding	Benign
5	14712901	G	A	G14712901A	ANKH	NM_054027.6(ANKH):c.1338C>T:p.Ile446=	coding	Benign
5	14712907	G	A	G14712907A	ANKH	NM_054027.6(ANKH):c.1332C>T:p.Val444=	coding	Benign
5	14712935	G	A	G14712935A	ANKH	NM_054027.6(ANKH):c.1304C>T:p.Ala435Val	coding	Benign/Likely_benign
5	14712961	C	T	C14712961T	ANKH	NM_054027.6(ANKH):c.1278G>A:p.Ala426=	coding	Benign
5	14712967	G	A	G14712967A	ANKH	NM_054027.6(ANKH):c.1272C>T:p.His424=	coding	Benign
5	14712979	G	A	G14712979A	ANKH	NM_054027.6(ANKH):c.1266-6C>T	coding	Benign
5	14713538	A	G	A14713538G	ANKH	NM_054027.6(ANKH):c.1265+6T>C	coding	Benign
5	14713572	C	T	C14713572T	ANKH	NM_054027.6(ANKH):c.1237G>A:p.Ala413Thr	coding	Benign/Likely_benign
5	14713637	A	G	A14713637G	ANKH	NM_054027.6(ANKH):c.1172T>C:p.Leu391Pro	coding	Pathogenic
5	14713644	C	T	C14713644T	ANKH	NM_054027.6(ANKH):c.1165G>A:p.Gly389Arg	coding	Pathogenic
5	14713671	T	C	T14713671C	ANKH	NM_054027.6(ANKH):c.1142-4A>G	coding	Pathogenic
5	14716732	C	T	C14716732T	ANKH	NM_054027.6(ANKH):c.1115G>A:p.Arg372Gln	coding	Benign/Likely_benign
5	14716826	C	T	C14716826T	ANKH	NM_054027.6(ANKH):c.1021G>A:p.Val341Met	coding	Benign
5	14716832	A	G	A14716832G	ANKH	NM_054027.6(ANKH):c.1015T>C:p.Cys339Arg	coding	Pathogenic
5	14716846	A	C	A14716846C	ANKH	NM_054027.6(ANKH):c.1012-11T>G	noncoding	Benign
5	14741812	A	C	A14741812C	ANKH	NM_054027.6(ANKH):c.1011+15T>G	noncoding	Benign
5	14741837	A	C	A14741837C	ANKH	NM_054027.6(ANKH):c.1001T>G:p.Leu334Arg	coding	Pathogenic
5	14741851	G	A	G14741851A	ANKH	NM_054027.6(ANKH):c.987C>T:p.Phe329=	coding	Benign
5	14741875	T	C	T14741875C	ANKH	NM_054027.6(ANKH):c.963A>G:p.Ala321=	coding	Benign
5	14745856	G	A	G14745856A	ANKH	NM_054027.6(ANKH):c.915+14C>T	noncoding	Benign
5	14749320	C	T	C14749320T	ANKH	NM_054027.6(ANKH):c.688-14G>A	noncoding	Benign
5	14751075	C	T	C14751075T	ANKH	NM_054027.6(ANKH):c.681G>A:p.Glu227=	coding	Benign/Likely_benign
5	14751196	C	T	C14751196T	ANKH	NM_054027.6(ANKH):c.560G>A:p.Arg187Gln	coding	Benign
5	14758467	C	T	C14758467T	ANKH	NM_054027.6(ANKH):c.432+13G>A	noncoding	Benign
5	14758507	G	A	G14758507A	ANKH	NM_054027.6(ANKH):c.405C>T:p.Leu135=	coding	Benign
5	14758543	C	T	C14758543T	ANKH	NM_054027.6(ANKH):c.369G>A:p.Ser123=	coding	Benign
5	14758611	G	A	G14758611A	ANKH	NM_054027.6(ANKH):c.314-13C>T	noncoding	Benign
5	14768966	C	T	C14768966T	ANKH	NM_054027.6(ANKH):c.313+9G>A	noncoding	Benign
5	14768994	G	A	G14768994A	ANKH	NM_054027.6(ANKH):c.294C>T:p.Ala98=	coding	Benign
5	14769000	G	A	G14769000A	ANKH	NM_054027.6(ANKH):c.288C>T:p.Ile96=	coding	Benign/Likely_benign
5	14769006	C	T	C14769006T	ANKH	NM_054027.6(ANKH):c.282G>A:p.Gly94=	coding	Benign
5	14769030	G	A	G14769030A	ANKH	NM_054027.6(ANKH):c.258C>T:p.Ala86=	coding	Benign
5	14769145	A	G	A14769145G	ANKH	NM_054027.6(ANKH):c.143T>C:p.Met48Thr	coding	Pathogenic
5	14769186	C	T	C14769186T	ANKH	NM_054027.6(ANKH):c.102G>A:p.Leu34=	coding	Benign
5	14871434	G	A	G14871434A	ANKH	NM_054027.6(ANKH):c.14C>T:p.Pro5Leu	coding	Pathogenic
5	14871435	G	T	G14871435T	ANKH	NM_054027.6(ANKH):c.13C>A:p.Pro5Thr	coding	Pathogenic
5	14871451	C	T	C14871451T	ANKH	NM_054027.6(ANKH):c.-4G>A	noncoding	Benign
5	14871699	G	A	G14871699A	ANKH	NM_054027.6(ANKH):c.-252C>T	noncoding	Benign
5	16473729	C	T	C16473729T	RETREG1	NM_001034850.2(RETREG1):c.*1012G>A	noncoding	Benign
5	16474149	C	T	C16474149T	RETREG1	NM_001034850.2(RETREG1):c.*592G>A	noncoding	Benign
5	16474506	G	T	G16474506T	RETREG1	NM_001034850.2(RETREG1):c.*235C>A	noncoding	Benign
5	16474535	T	G	T16474535G	RETREG1	NM_001034850.2(RETREG1):c.*206A>C	noncoding	Benign
5	16475090	C	G	C16475090G	RETREG1	NM_001034850.2(RETREG1):c.1145G>C:p.Ser382Thr	coding	Benign
5	16475100	G	C	G16475100C	RETREG1	NM_001034850.2(RETREG1):c.1135C>G:p.Gln379Glu	coding	Benign/Likely_benign
5	16477414	C	T	C16477414T	RETREG1	NM_001034850.2(RETREG1):c.1000+248G>A	noncoding	Benign
5	16477464	T	C	T16477464C	RETREG1	NM_001034850.2(RETREG1):c.1000+198A>G	noncoding	Benign
5	16477642	C	A	C16477642A	RETREG1	NM_001034850.2(RETREG1):c.1000+20G>T	noncoding	Benign
5	16477736	G	C	G16477736C	RETREG1	NM_001034850.2(RETREG1):c.926C>G:p.Ser309Ter	coding	Pathogenic
5	16477974	G	A	G16477974A	RETREG1	NM_001034850.2(RETREG1):c.873+60C>T	noncoding	Benign
5	16478011	A	G	A16478011G	RETREG1	NM_001034850.2(RETREG1):c.873+23T>C	noncoding	Benign
5	16478091	G	A	G16478091A	RETREG1	NM_001034850.2(RETREG1):c.816C>T:p.Asp272=	coding	Benign
5	16478871	G	A	G16478871A	RETREG1	NM_001034850.2(RETREG1):c.787C>T:p.Gln263Ter	coding	Pathogenic
5	16479042	A	G	A16479042G	RETREG1	NM_001034850.2(RETREG1):c.671-55T>C	noncoding	Benign
5	16479111	A	G	A16479111G	RETREG1	NM_001034850.2(RETREG1):c.671-124T>C	noncoding	Benign
5	16480953	C	T	C16480953T	RETREG1	NM_001034850.2(RETREG1):c.670+56G>A	noncoding	Benign
5	16481076	A	G	A16481076G	RETREG1	NM_001034850.2(RETREG1):c.603T>C:p.Cys201=	coding	Benign
5	16483360	G	A	G16483360A	RETREG1	NM_001034850.2(RETREG1):c.571C>T:p.Gln191Ter	coding	Pathogenic
5	16508565	A	G	A16508565G	RETREG1	NM_001034850.2(RETREG1):c.459-25093T>C	noncoding	Benign
5	16508789	T	C	T16508789C	RETREG1	NM_001034850.2(RETREG1):c.459-25317A>G	coding	Benign
5	16509074	A	G	A16509074G	RETREG1	NM_001034850.2(RETREG1):c.459-25602T>C	noncoding	Benign
5	16509227	G	A	G16509227A	RETREG1	NM_001034850.2(RETREG1):c.459-25755C>T	noncoding	Benign
5	16565761	A	G	A16565761G	RETREG1	NM_001034850.2(RETREG1):c.458+2T>C	noncoding	Pathogenic
5	16565783	C	T	C16565783T	RETREG1	NM_001034850.2(RETREG1):c.438G>A:p.Leu146=	coding	Benign
5	16565788	G	A	G16565788A	RETREG1	NM_001034850.2(RETREG1):c.433C>T:p.Gln145Ter	coding	Pathogenic
5	16566103	C	T	C16566103T	RETREG1	NM_001034850.2(RETREG1):c.428-310G>A	noncoding	Benign
5	16572044	G	A	G16572044A	RETREG1	NM_001034850.2(RETREG1):c.379C>T:p.Arg127Cys	coding	Benign
5	16572102	C	T	C16572102T	RETREG1	NM_001034850.2(RETREG1):c.321G>A:p.Trp107Ter	coding	Pathogenic
5	16616990	A	G	A16616990G	RETREG1	NM_001034850.2(RETREG1):c.-19=	noncoding	Benign
5	16668281	C	G	C16668281G	MYO10	NM_012334.3(MYO10):c.6071G>C:p.Ser2024Thr	coding	Benign
5	16671482	G	A	G16671482A	MYO10	NM_012334.3(MYO10):c.5370C>T:p.Cys1790=	coding	Benign
5	16673850	G	A	G16673850A	MYO10	NM_012334.3(MYO10):c.5004C>T:p.Tyr1668=	coding	Benign
5	16674999	C	T	C16674999T	MYO10	NM_012334.3(MYO10):c.4818G>A:p.Leu1606=	coding	Benign
5	16675035	C	T	C16675035T	MYO10	NM_012334.3(MYO10):c.4782G>A:p.Gln1594=	coding	Benign
5	16676068	C	T	C16676068T	MYO10	NM_012334.3(MYO10):c.4629G>A:p.Pro1543=	coding	Benign
5	16676104	C	T	C16676104T	MYO10	NM_012334.3(MYO10):c.4593G>A:p.Pro1531=	coding	Benign
5	16676138	G	A	G16676138A	MYO10	NM_012334.3(MYO10):c.4559C>T:p.Ser1520Leu	coding	Benign
5	16676143	C	T	C16676143T	MYO10	NM_012334.3(MYO10):c.4554G>A:p.Leu1518=	coding	Benign
5	16681917	C	T	C16681917T	MYO10	NM_012334.3(MYO10):c.4143G>A:p.Arg1381=	coding	Benign
5	16681953	C	T	C16681953T	MYO10	NM_012334.3(MYO10):c.4107G>A:p.Pro1369=	coding	Benign
5	16685738	C	T	C16685738T	MYO10	NM_012334.3(MYO10):c.3990G>A:p.Val1330=	coding	Benign
5	16701188	G	A	G16701188A	MYO10	NM_012334.3(MYO10):c.3207C>T:p.Gly1069=	coding	Benign
5	16701524	G	A	G16701524A	MYO10	NM_012334.3(MYO10):c.2871C>T:p.Ile957=	coding	Benign
5	16701687	A	G	A16701687G	MYO10	NM_012334.3(MYO10):c.2708T>C:p.Met903Thr	coding	Benign
5	16754868	T	C	T16754868C	MYO10	NM_012334.3(MYO10):c.1889A>G:p.Asn630Ser	coding	Benign
5	16780531	T	G	T16780531G	MYO10	NM_012334.3(MYO10):c.819A>C:p.Glu273Asp	coding	Benign
5	17275255	T	C	T17275255C	BASP1	NM_006317.5(BASP1):c.39T>C:p.Asn13=	coding	Benign
5	19571674	A	C	A19571674C	CDH18	NM_004934.5(CDH18):c.1158T>G:p.Pro386=	coding	Benign
5	19721408	G	A	G19721408A	CDH18	NM_004934.5(CDH18):c.582C>T:p.Ser194=	coding	Benign
5	21751899	G	A	G21751899A	CDH12	NM_004061.5(CDH12):c.2223C>T:p.Tyr741=	coding	Benign
5	21760595	A	G	A21760595G	CDH12	NM_004061.5(CDH12):c.1596T>C:p.Ala532=	coding	Benign
5	21765069	A	G	A21765069G	CDH12	NM_004061.5(CDH12):c.1424T>C:p.Ile475Thr	coding	Benign
5	21802376	C	A	C21802376A	CDH12	NM_004061.5(CDH12):c.1047G>T:p.Glu349Asp	coding	Benign
5	21802423	G	A	G21802423A	CDH12	NM_004061.5(CDH12):c.1003-3C>T	noncoding	Benign
5	21842195	G	A	G21842195A	CDH12	NM_004061.5(CDH12):c.780C>T:p.Thr260=	coding	Benign
5	21854678	G	C	G21854678C	CDH12	NM_004061.5(CDH12):c.639C>G:p.Pro213=	coding	Benign
5	21975290	C	T	C21975290T	CDH12	NM_004061.5(CDH12):c.327G>A:p.Gly109=	coding	Benign
5	22078497	T	C	T22078497C	CDH12	NM_004061.5(CDH12):c.180A>G:p.Gln60=	coding	Benign
5	22078577	C	G	C22078577G	CDH12	NM_004061.5(CDH12):c.100G>C:p.Glu34Gln	coding	Benign
5	23509490	C	T	C23509490T	PRDM9	NM_020227.4(PRDM9):c.90C>T:p.Asp30=	coding	Benign
5	23521103	C	T	C23521103T	PRDM9	NM_020227.4(PRDM9):c.432C>T:p.Gly144=	coding	Benign
5	24488011	G	A	G24488011A	CDH10	NM_006727.5(CDH10):c.2019C>T:p.Gly673=	coding	Benign
5	24498506	C	T	C24498506T	CDH10	NM_006727.5(CDH10):c.1407G>A:p.Glu469=	coding	Benign
5	24537396	G	A	G24537396A	CDH10	NM_006727.5(CDH10):c.510C>T:p.Pro170=	coding	Benign
5	26885688	T	C	T26885688C	CDH9	NM_016279.4(CDH9):c.1808A>G:p.Glu603Gly	coding	Benign
5	26889890	C	T	C26889890T	CDH9	NM_016279.4(CDH9):c.1458G>A:p.Pro486=	coding	Benign
5	26902723	C	T	C26902723T	CDH9	NM_016279.4(CDH9):c.1006G>A:p.Asp336Asn	coding	Benign
5	31406873	T	G	T31406873G	DROSHA	NM_013235.5(DROSHA):c.3927A>C:p.Ile1309=	coding	Benign
5	31410816	G	A	G31410816A	DROSHA	NM_013235.5(DROSHA):c.3597C>T:p.Tyr1199=	coding	Benign
5	31429466	T	C	T31429466C	DROSHA	NM_013235.5(DROSHA):c.3216+9A>G	noncoding	Benign
5	31435780	A	G	A31435780G	DROSHA	NM_013235.5(DROSHA):c.3027T>C:p.Leu1009=	coding	Benign
5	31515114	C	T	C31515114T	DROSHA	NM_013235.5(DROSHA):c.1164G>A:p.Lys388=	coding	Benign
5	31526178	C	T	C31526178T	DROSHA	NM_013235.5(DROSHA):c.755G>A:p.Arg252Gln	coding	Benign
5	31526672	C	T	C31526672T	DROSHA	NM_013235.5(DROSHA):c.261G>A:p.Pro87=	coding	Benign
5	31526734	G	T	G31526734T	DROSHA	NM_013235.5(DROSHA):c.199C>A:p.Pro67Thr	coding	Benign
5	31799264	G	A	G31799264A	PDZD2	NM_178140.4(PDZD2):c.16G>A:p.Asp6Asn	coding	Benign
5	31799337	C	G	C31799337G	PDZD2	NM_178140.4(PDZD2):c.89C>G:p.Pro30Arg	coding	Benign
5	32074075	C	T	C32074075T	PDZD2	NM_178140.4(PDZD2):c.2969C>T:p.Pro990Leu	coding	Benign
5	32074566	G	C	G32074566C	PDZD2	NM_178140.4(PDZD2):c.3460G>C:p.Asp1154His	coding	Benign
5	32087122	C	T	C32087122T	PDZD2	NM_178140.4(PDZD2):c.3683-9C>T	noncoding	Benign
5	32087696	A	G	A32087696G	PDZD2	NM_178140.4(PDZD2):c.4248A>G:p.Pro1416=	coding	Benign
5	32088107	C	T	C32088107T	PDZD2	NM_178140.4(PDZD2):c.4659C>T:p.Gly1553=	coding	Benign
5	32089010	G	A	G32089010A	PDZD2	NM_178140.4(PDZD2):c.5562G>A:p.Pro1854=	coding	Benign
5	32089994	A	G	A32089994G	PDZD2	NM_178140.4(PDZD2):c.6546A>G:p.Glu2182=	coding	Benign
5	32090554	T	C	T32090554C	PDZD2	NM_178140.4(PDZD2):c.7106T>C:p.Ile2369Thr	coding	Benign
5	32094548	A	G	A32094548G	PDZD2	NM_178140.4(PDZD2):c.7845+1524A>G	noncoding	Benign
5	32101062	A	T	A32101062T	PDZD2	NM_178140.4(PDZD2):c.8219-43A>T	noncoding	Benign
5	32103390	C	T	C32103390T	PDZD2	NM_178140.4(PDZD2):c.8353+2151C>T	noncoding	Benign
5	32230196	A	G	A32230196G	MTMR12	NM_001040446.3(MTMR12):c.1826T>C:p.Phe609Ser	coding	Benign
5	32248075	G	A	G32248075A	MTMR12	NM_001040446.3(MTMR12):c.948C>T:p.Asp316=	coding	Benign
5	32387639	A	G	A32387639G	ZFR	NM_016107.5(ZFR):c.2409T>C:p.Asp803=	coding	Benign
5	32395185	T	C	T32395185C	ZFR	NM_016107.5(ZFR):c.1953A>G:p.Glu651=	coding	Benign
5	32400001	A	G	A32400001G	ZFR	NM_016107.5(ZFR):c.1713+6T>C	noncoding	Benign
5	32598951	T	A	T32598951A	SUB1	NM_006713.4(SUB1):c.196-10T>A	noncoding	Benign
5	32774752	C	T	C32774752T	NPR3	NM_001204375.2(NPR3):c.1104C>T:p.Tyr368=	coding	Benign
5	32784833	C	T	C32784833T	NPR3	NM_001204375.2(NPR3):c.1464C>T:p.Val488=	coding	Benign
5	33445328	G	A	G33445328A	TARS1	NM_001258438.1(TARS1):c.62G>A:p.Gly21Asp	coding	Benign
5	33448633	A	C	A33448633C	TARS1	NM_001258438.1(TARS1):c.231A>C:p.Glu77Asp	coding	Benign
5	33453311	G	A	G33453311A	TARS1	NM_001258438.1(TARS1):c.451G>A:p.Val151Ile	coding	Benign
5	33455016	C	T	C33455016T	TARS1	NM_001258438.1(TARS1):c.624C>T:p.Tyr208=	coding	Benign
5	33455691	T	C	T33455691C	TARS1	NM_152295.4(TARS1):c.680T>C:p.Leu227Pro	coding	Pathogenic
5	33456216	A	G	A33456216G	TARS1	NM_152295.4(TARS1):c.826A>G:p.Lys276Glu	coding	Pathogenic
5	33462107	G	A	G33462107A	TARS1	NM_001258438.1(TARS1):c.1838G>A:p.Gly613Asp	coding	Benign
5	33466874	C	T	C33466874T	TARS1	NM_152295.4(TARS1):c.1912C>T:p.Arg638Ter	coding	Pathogenic
5	33534889	T	C	T33534889C	ADAMTS12	NM_030955.4(ADAMTS12):c.4550A>G:p.Lys1517Arg	coding	Benign
5	33549330	G	C	G33549330C	ADAMTS12	NM_030955.4(ADAMTS12):c.4179C>G:p.Asp1393Glu	coding	Benign
5	33576424	G	A	G33576424A	ADAMTS12	NM_030955.4(ADAMTS12):c.3602C>T:p.Thr1201Ile	coding	Benign
5	33576991	T	C	T33576991C	ADAMTS12	NM_030955.4(ADAMTS12):c.3035A>G:p.Asn1012Ser	coding	Benign
5	33596021	C	T	C33596021T	ADAMTS12	NM_030955.4(ADAMTS12):c.2567G>A:p.Arg856His	coding	Benign
5	33658228	C	T	C33658228T	ADAMTS12	NM_030955.4(ADAMTS12):c.1146G>A:p.Ser382=	coding	Benign
5	33683901	C	T	C33683901T	ADAMTS12	NM_030955.4(ADAMTS12):c.789G>A:p.Gly263=	coding	Benign
5	33881280	G	C	G33881280C	ADAMTS12	NM_030955.4(ADAMTS12):c.328C>G:p.Gln110Glu	coding	Benign
5	33881380	C	T	C33881380T	ADAMTS12	NM_030955.4(ADAMTS12):c.228G>A:p.Thr76=	coding	Benign
5	33937110	C	T	C33937110T	RXFP3	NM_016568.3(RXFP3):c.370C>T:p.Leu124=	coding	Benign
5	33944784	G	A	G33944784A	SLC45A2	NM_016180.5(SLC45A2):c.1457C>T:p.Ala486Val	coding	Pathogenic
5	33947162	C	A	C33947162A	SLC45A2	NM_016180.5(SLC45A2):c.1368+1G>T	coding	Pathogenic
5	33951558	A	C	A33951558C	SLC45A2	NM_016180.5(SLC45A2):c.1152T>G:p.Tyr384Ter	coding	Pathogenic
5	33951588	C	G	C33951588G	SLC45A2	NM_016180.5(SLC45A2):c.1122G>C:p.Leu374Phe	coding	Benign
5	33954352	G	A	G33954352A	SLC45A2	NM_016180.5(SLC45A2):c.1032+9C>T	noncoding	Benign/Likely_benign
5	33954406	T	C	T33954406C	SLC45A2	NM_016180.5(SLC45A2):c.987A>G:p.Thr329=	coding	Benign
5	33954436	G	T	G33954436T	SLC45A2	NM_016180.5(SLC45A2):c.957C>A:p.Tyr319Ter	coding	Pathogenic
5	33963723	G	A	G33963723A	SLC45A2	NM_016180.5(SLC45A2):c.856C>T:p.Gln286Ter	coding	Pathogenic
5	33963745	G	C	G33963745C	SLC45A2	NM_016180.5(SLC45A2):c.834C>G:p.Tyr278Ter	coding	Pathogenic/Likely_pathogenic
5	33963765	C	T	C33963765T	SLC45A2	NM_016180.5(SLC45A2):c.814G>A:p.Glu272Lys	coding	Benign/Likely_benign
5	33963973	C	G	C33963973G	SLC45A2	NM_016180.5(SLC45A2):c.606G>C:p.Trp202Cys	coding	Pathogenic/Likely_pathogenic
5	33964017	C	T	C33964017T	SLC45A2	NM_016180.5(SLC45A2):c.563-1G>A	coding	Pathogenic
5	33982329	C	T	C33982329T	SLC45A2	NM_016180.5(SLC45A2):c.469G>A:p.Asp157Asn	coding	Pathogenic
5	33982413	C	T	C33982413T	SLC45A2	NM_016180.5(SLC45A2):c.386-1G>A	coding	Pathogenic
5	33984374	G	T	G33984374T	SLC45A2	NM_016180.5(SLC45A2):c.210C>A:p.Tyr70Ter	coding	Pathogenic
5	33987366	C	A	C33987366A	AMACR	NM_014324.6(AMACR):c.*1727G>T	noncoding	Benign
5	33988340	A	C	A33988340C	AMACR	NM_014324.6(AMACR):c.*753T>G	coding	Benign
5	33988430	C	T	C33988430T	AMACR;SLC45A2;C1QTNF3-AMACR	NM_014324.6(AMACR):c.*663G>A	coding	Benign/Likely_benign
5	33988866	A	C	A33988866C	AMACR;SLC45A2;C1QTNF3-AMACR	NM_014324.6(AMACR):c.*227T>G	coding	Benign/Likely_benign
5	33989405	C	T	C33989405T	AMACR	NM_014324.6(AMACR):c.837G>A:p.Thr279=	coding	Benign/Likely_benign
5	33989413	C	T	C33989413T	AMACR;SLC45A2;C1QTNF3-AMACR	NM_014324.6(AMACR):c.829G>A:p.Glu277Lys	coding	Benign
5	33989460	A	G	A33989460G	AMACR	NM_014324.6(AMACR):c.782T>C:p.Met261Thr	coding	Benign
5	33998663	C	A	C33998663A	AMACR;C1QTNF3-AMACR	NM_014324.6(AMACR):c.717G>T:p.Gln239His	coding	Benign
5	33998668	G	A	G33998668A	AMACR	NM_014324.6(AMACR):c.712C>T:p.Pro238Ser	coding	Benign
5	33998778	A	G	A33998778G	AMACR	NM_014324.6(AMACR):c.602T>C:p.Leu201Ser	coding	Benign
5	34004602	C	T	C34004602T	AMACR	NM_014324.6(AMACR):c.524G>A:p.Gly175Asp	coding	Benign
5	34004688	C	T	C34004688T	AMACR	NM_014324.6(AMACR):c.438G>A:p.Pro146=	coding	Benign/Likely_benign
5	34005794	C	T	C34005794T	AMACR	NM_014324.6(AMACR):c.353G>A:p.Arg118Gln	coding	Benign
5	34005827	A	G	A34005827G	AMACR	NM_014324.6(AMACR):c.320T>C:p.Leu107Pro	coding	Pathogenic
5	34007753	C	T	C34007753T	AMACR	NM_014324.6(AMACR):c.247+20G>A	noncoding	Benign
5	34007866	A	G	A34007866G	AMACR	NM_014324.6(AMACR):c.154T>C:p.Ser52Pro	coding	Pathogenic
5	34007995	C	T	C34007995T	AMACR	NM_014324.6(AMACR):c.25G>A:p.Val9Met	coding	Benign
5	34757524	T	G	T34757524G	RAI14	NM_015577.3(RAI14):c.93T>G:p.Asp31Glu	coding	Benign
5	34929913	C	G	C34929913G	DNAJC21	NM_001012339.3(DNAJC21):c.94C>G:p.Pro32Ala	coding	Pathogenic
5	34929921	G	A	G34929921A	DNAJC21	NM_001012339.3(DNAJC21):c.97+5G>A	noncoding	Benign
5	34933817	A	G	A34933817G	DNAJC21	NM_001012339.3(DNAJC21):c.100A>G:p.Lys34Glu	coding	Pathogenic
5	34935740	A	G	A34935740G	DNAJC21	NM_001012339.3(DNAJC21):c.222A>G:p.Lys74=	coding	Benign
5	34936155	G	A	G34936155A	DNAJC21	NM_001012339.3(DNAJC21):c.327G>A:p.Thr109=	coding	Benign
5	34937404	C	T	C34937404T	DNAJC21	NM_001012339.3(DNAJC21):c.517C>T:p.Arg173Ter	coding	Pathogenic
5	34937407	C	T	C34937407T	DNAJC21	NM_001012339.3(DNAJC21):c.520C>T:p.Gln174Ter	coding	Pathogenic
5	34937431	C	T	C34937431T	DNAJC21	NM_001012339.3(DNAJC21):c.544C>T:p.Arg182Ter	coding	Pathogenic
5	34937544	G	A	G34937544A	DNAJC21	NM_001012339.3(DNAJC21):c.657G>A:p.Ala219=	coding	Benign
5	34938907	G	T	G34938907T	DNAJC21	NM_001012339.3(DNAJC21):c.793G>T:p.Glu265Ter	coding	Pathogenic
5	34938935	G	A	G34938935A	DNAJC21	NM_001012339.3(DNAJC21):c.821G>A:p.Arg274Gln	coding	Benign
5	34941184	G	T	G34941184T	DNAJC21	NM_001012339.3(DNAJC21):c.983+1G>T	coding	Pathogenic
5	34944907	G	A	G34944907A	DNAJC21	NM_001012339.3(DNAJC21):c.1024G>A:p.Val342Met	coding	Benign
5	34950229	A	G	A34950229G	DNAJC21	NM_001012339.3(DNAJC21):c.1245A>G:p.Glu415=	coding	Benign
5	34950281	G	A	G34950281A	DNAJC21	NM_001012339.3(DNAJC21):c.1297G>A:p.Glu433Lys	coding	Benign
5	34950313	A	G	A34950313G	DNAJC21	NM_001012339.3(DNAJC21):c.1329A>G:p.Pro443=	coding	Benign
5	35012953	C	T	C35012953T	AGXT2	NM_031900.4(AGXT2):c.1188+1G>A	noncoding	Benign/Likely_benign
5	35032776	C	T	C35032776T	AGXT2	NM_031900.4(AGXT2):c.725G>A:p.Arg242Gln	coding	Benign
5	35033526	G	A	G35033526A	AGXT2	NM_031900.4(AGXT2):c.609C>T:p.Tyr203=	coding	Benign
5	35037030	C	T	C35037030T	AGXT2	NM_031900.4(AGXT2):c.398G>A:p.Arg133His	coding	Benign
5	35037031	G	A	G35037031A	AGXT2	NM_031900.4(AGXT2):c.397C>T:p.Arg133Cys	coding	Benign
5	35065254	G	A	G35065254A	PRLR	NM_000949.7(PRLR):c.1704C>T:p.Asn568=	coding	Benign
5	35065548	C	T	C35065548T	PRLR	NM_000949.7(PRLR):c.1410G>A:p.Glu470=	coding	Benign
5	35068265	G	A	G35068265A	PRLR	NM_000949.7(PRLR):c.806C>T:p.Pro269Leu	coding	Pathogenic
5	35070117	C	T	C35070117T	PRLR	NM_000949.7(PRLR):c.685+7G>A	noncoding	Benign
5	35070174	T	C	T35070174C	PRLR	NM_000949.7(PRLR):c.635A>G:p.His212Arg	coding	Pathogenic
5	35072607	G	A	G35072607A	PRLR	NM_000949.7(PRLR):c.511C>T:p.Arg171Ter	coding	Pathogenic
5	35641480	A	C	A35641480C	SPEF2	NM_024867.4(SPEF2):c.211A>C:p.Asn71His	coding	Benign
5	35641566	A	G	A35641566G	SPEF2	NM_024867.4(SPEF2):c.297A>G:p.Gln99=	coding	Benign
5	35644519	T	C	T35644519C	SPEF2	NM_024867.4(SPEF2):c.579T>C:p.Ile193=	coding	Benign
5	35654609	C	T	C35654609T	SPEF2	NM_024867.4(SPEF2):c.861C>T:p.Asp287=	coding	Benign
5	35670201	G	A	G35670201A	SPEF2	NM_024867.4(SPEF2):c.1498G>A:p.Asp500Asn	coding	Benign
5	35691081	T	C	T35691081C	SPEF2	NM_024867.4(SPEF2):c.1569T>C:p.Asn523=	coding	Benign
5	35691131	C	T	C35691131T	SPEF2	NM_024867.4(SPEF2):c.1619C>T:p.Ala540Val	coding	Benign
5	35692568	A	G	A35692568G	SPEF2	NM_024867.4(SPEF2):c.1745-2A>G	noncoding	Pathogenic
5	35692673	T	A	T35692673A	SPEF2	NM_024867.4(SPEF2):c.1848T>A:p.Asn616Lys	coding	Benign
5	35694352	A	G	A35694352G	SPEF2	NM_024867.4(SPEF2):c.1964A>G:p.Glu655Gly	coding	Benign
5	35695742	T	C	T35695742C	SPEF2	NM_024867.4(SPEF2):c.1983T>C:p.Asn661=	coding	Benign
5	35697779	A	G	A35697779G	SPEF2	NM_024867.4(SPEF2):c.2127A>G:p.Ile709Met	coding	Benign
5	35700496	T	C	T35700496C	SPEF2	NM_024867.4(SPEF2):c.2142T>C:p.Asn714=	coding	Benign
5	35708993	C	T	C35708993T	SPEF2	NM_024867.4(SPEF2):c.2711C>T:p.Ala904Val	coding	Benign
5	35709082	G	C	G35709082C	SPEF2	NM_024867.4(SPEF2):c.2800G>C:p.Ala934Pro	coding	Benign
5	35712799	G	A	G35712799A	SPEF2	NM_024867.4(SPEF2):c.2840-13G>A	noncoding	Benign
5	35727832	A	T	A35727832T	SPEF2	NM_024867.4(SPEF2):c.3063+9A>T	noncoding	Benign
5	35753613	T	C	T35753613C	SPEF2	NM_024867.4(SPEF2):c.3331-11T>C	noncoding	Benign
5	35773977	G	T	G35773977T	SPEF2	NM_024867.4(SPEF2):c.4034G>T:p.Arg1345Met	coding	Benign
5	35776280	G	T	G35776280T	SPEF2	NM_024867.4(SPEF2):c.4102G>T:p.Glu1368Ter	coding	Pathogenic
5	35806925	C	T	C35806925T	SPEF2	NM_024867.4(SPEF2):c.5229C>T:p.His1743=	coding	Benign
5	35857075	G	C	G35857075C	IL7R	NM_002185.5(IL7R):c.82+16G>C	noncoding	Benign
5	35860901	C	T	C35860901T	IL7R	NM_002185.5(IL7R):c.132C>T:p.Ser44=	coding	Benign/Likely_benign
5	35860922	G	A	G35860922A	IL7R	NM_002185.5(IL7R):c.153G>A:p.Ser51=	coding	Benign
5	35860966	T	C	T35860966C	IL7R	NM_002185.5(IL7R):c.197T>C:p.Ile66Thr	coding	Benign
5	35860991	G	A	G35860991A	IL7R	NM_002185.5(IL7R):c.221+1G>A	coding	Pathogenic
5	35860992	T	G	T35860992G	IL7R	NM_002185.5(IL7R):c.221+2T>G	noncoding	Pathogenic
5	35867417	T	A	T35867417A	IL7R	NM_002185.5(IL7R):c.333T>A:p.Val111=	coding	Pathogenic
5	35867437	G	A	G35867437A	IL7R	NM_002185.5(IL7R):c.353G>A:p.Cys118Tyr	coding	Pathogenic
5	35867439	A	T	A35867439T	IL7R	NM_002185.5(IL7R):c.355A>T:p.Lys119Ter	coding	Pathogenic
5	35871070	C	T	C35871070T	IL7R	NM_002185.5(IL7R):c.394C>T:p.Pro132Ser	coding	Pathogenic
5	35871088	G	A	G35871088A	IL7R	NM_002185.5(IL7R):c.412G>A:p.Val138Ile	coding	Benign
5	35871171	C	T	C35871171T	IL7R	NM_002185.5(IL7R):c.495C>T:p.His165=	coding	Benign
5	35871214	G	A	G35871214A	IL7R	NM_002185.5(IL7R):c.537+1G>A	coding	Pathogenic
5	35873466	A	C	A35873466C	IL7R	NM_002185.5(IL7R):c.538-14A>C	noncoding	Benign
5	35873479	G	A	G35873479A	IL7R	NM_002185.5(IL7R):c.538-1G>A	noncoding	Pathogenic
5	35873503	G	A	G35873503A	IL7R	NM_002185.5(IL7R):c.561G>A:p.Lys187=	coding	Benign/Likely_benign
5	35873593	G	A	G35873593A	IL7R	NM_002185.5(IL7R):c.651G>A:p.Trp217Ter	coding	Pathogenic
5	35873617	C	A	C35873617A	IL7R	NM_002185.5(IL7R):c.675C>A:p.Tyr225Ter	coding	Pathogenic
5	35873646	C	G	C35873646G	IL7R	NM_002185.5(IL7R):c.704C>G:p.Ser235Ter	coding	Pathogenic
5	35874447	A	G	A35874447G	IL7R	NM_002185.5(IL7R):c.707-2A>G	noncoding	Pathogenic
5	35874473	C	T	C35874473T	IL7R	NM_002185.5(IL7R):c.731C>T:p.Thr244Ile	coding	Benign
5	35874501	C	T	C35874501T	IL7R	NM_002185.5(IL7R):c.759C>T:p.Val253=	coding	Benign
5	35876126	T	G	T35876126G	IL7R	NM_002185.5(IL7R):c.1020T>G:p.Leu340=	coding	Benign/Likely_benign
5	35876149	A	C	A35876149C	IL7R	NM_002185.5(IL7R):c.1043A>C:p.Asn348Thr	coding	Benign
5	35876172	A	G	A35876172G	IL7R	NM_002185.5(IL7R):c.1066A>G:p.Ile356Val	coding	Benign
5	35876198	T	G	T35876198G	IL7R	NM_002185.5(IL7R):c.1092T>G:p.Asp364Glu	coding	Benign
5	35876294	T	C	T35876294C	IL7R	NM_002185.5(IL7R):c.1188T>C:p.Asn396=	coding	Benign
5	35876306	G	A	G35876306A	IL7R	NM_002185.5(IL7R):c.1200G>A:p.Val400=	coding	Benign
5	35876337	A	G	A35876337G	IL7R	NM_002185.5(IL7R):c.1231A>G:p.Thr411Ala	coding	Benign/Likely_benign
5	35876347	C	T	C35876347T	IL7R	NM_002185.5(IL7R):c.1241C>T:p.Thr414Met	coding	Benign
5	35876528	A	G	A35876528G	IL7R	NM_002185.5(IL7R):c.*42A>G	noncoding	Benign
5	35876939	G	T	G35876939T	IL7R	NM_002185.5(IL7R):c.*453G>T	noncoding	Benign
5	35876994	A	G	A35876994G	IL7R	NM_002185.5(IL7R):c.*508A>G	noncoding	Benign
5	35877316	A	C	A35877316C	IL7R	NM_002185.5(IL7R):c.*830A>C	noncoding	Benign
5	35877403	G	A	G35877403A	IL7R	NM_002185.5(IL7R):c.*917G>A	noncoding	Benign
5	35877657	G	A	G35877657A	IL7R	NM_002185.5(IL7R):c.*1171G>A	noncoding	Benign
5	35877724	A	T	A35877724T	IL7R	NM_002185.5(IL7R):c.*1238A>T	noncoding	Benign
5	35877739	G	A	G35877739A	IL7R	NM_002185.5(IL7R):c.*1253G>A	noncoding	Benign
5	35877739	G	T	G35877739T	IL7R	NM_002185.5(IL7R):c.*1253G>T	noncoding	Benign
5	35877812	A	G	A35877812G	IL7R	NM_002185.5(IL7R):c.*1326A>G	noncoding	Benign
5	35877994	G	C	G35877994C	IL7R	NM_002185.5(IL7R):c.*1508G>C	noncoding	Benign
5	35878038	G	A	G35878038A	IL7R	NM_002185.5(IL7R):c.*1552G>A	noncoding	Benign
5	35878105	G	T	G35878105T	IL7R	NM_002185.5(IL7R):c.*1619G>T	noncoding	Benign
5	35878147	G	A	G35878147A	IL7R	NM_002185.5(IL7R):c.*1661G>A	noncoding	Benign
5	35878388	C	T	C35878388T	IL7R	NM_002185.5(IL7R):c.*1902C>T	noncoding	Benign
5	35878410	G	A	G35878410A	IL7R	NM_002185.5(IL7R):c.*1924G>A	noncoding	Benign
5	35878651	C	T	C35878651T	IL7R	NM_002185.5(IL7R):c.*2165C>T	noncoding	Benign
5	35878825	T	C	T35878825C	IL7R	NM_002185.5(IL7R):c.*2339T>C	noncoding	Benign
5	35878940	T	A	T35878940A	IL7R	NM_002185.5(IL7R):c.*2454T>A	noncoding	Benign
5	35878993	C	T	C35878993T	IL7R	NM_002185.5(IL7R):c.*2507C>T	noncoding	Benign
5	35879033	G	A	G35879033A	IL7R	NM_002185.5(IL7R):c.*2547G>A	noncoding	Benign
5	35879054	G	T	G35879054T	IL7R	NM_002185.5(IL7R):c.*2568G>T	noncoding	Benign
5	35879236	C	G	C35879236G	IL7R	NM_002185.5(IL7R):c.*2750C>G	noncoding	Benign
5	35879327	T	C	T35879327C	IL7R	NM_002185.5(IL7R):c.*2841T>C	noncoding	Benign
5	35879384	G	A	G35879384A	IL7R	NM_002185.5(IL7R):c.*2898G>A	noncoding	Benign
5	35879481	G	A	G35879481A	IL7R	NM_002185.5(IL7R):c.*2995G>A	noncoding	Benign
5	35879493	A	G	A35879493G	IL7R	NM_002185.5(IL7R):c.*3007A>G	noncoding	Benign
5	35879501	A	G	A35879501G	IL7R	NM_002185.5(IL7R):c.*3015A>G	noncoding	Benign
5	35904571	T	C	T35904571C	CAPSL	NM_001042625.2(CAPSL):c.601A>G:p.Met201Val	coding	Benign
5	36115007	G	A	G36115007A	LMBRD2	NM_001007527.2(LMBRD2):c.1542+8C>T	noncoding	Benign
5	36116561	A	G	A36116561G	LMBRD2	NM_001007527.2(LMBRD2):c.1335T>C:p.Ser445=	coding	Benign
5	36117783	C	T	C36117783T	LMBRD2	NM_001007527.2(LMBRD2):c.1254G>A:p.Ala418=	coding	Benign
5	36141199	C	T	C36141199T	LMBRD2	NM_001007527.2(LMBRD2):c.276G>A:p.Gln92=	coding	Benign
5	36141200	T	C	T36141200C	LMBRD2	NM_001007527.2(LMBRD2):c.275A>G:p.Gln92Arg	coding	Benign
5	36197627	C	T	C36197627T	NADK2	NM_001085411.3(NADK2):c.1104G>A:p.Pro368=	coding	Benign
5	36207164	A	G	A36207164G	NADK2	NM_001085411.3(NADK2):c.956+6T>C	noncoding	Pathogenic
5	36217895	T	A	T36217895A	NADK2	NM_001085411.3(NADK2):c.645-11A>T	noncoding	Benign
5	36219608	C	T	C36219608T	NADK2	NM_001085411.3(NADK2):c.632G>A:p.Arg211His	coding	Benign
5	36226515	T	G	T36226515G	NADK2	NM_001085411.3(NADK2):c.438A>C:p.Glu146Asp	coding	Benign
5	36227507	T	C	T36227507C	NADK2	NM_001085411.3(NADK2):c.359A>G:p.Lys120Arg	coding	Benign
5	36241541	C	T	C36241541T	NADK2	NM_001085411.3(NADK2):c.258G>A:p.Arg86=	coding	Benign
5	36241589	C	A	C36241589A	NADK2	NM_001085411.3(NADK2):c.210G>T:p.Arg70=	coding	Benign
5	36241820	G	A	G36241820A	NADK2	NM_001085411.3(NADK2):c.-22C>T	noncoding	Benign
5	36241905	G	A	G36241905A	NADK2	NM_001085411.3(NADK2):c.-107C>T	noncoding	Benign
5	36242110	T	C	T36242110C	NADK2	NM_001287341.2(NADK2):c.-204A>G	noncoding	Benign
5	36608438	T	C	T36608438C	SLC1A3	NM_004172.5(SLC1A3):c.15T>C:p.Asn5=	coding	Benign
5	36608491	G	A	G36608491A	SLC1A3	NM_004172.5(SLC1A3):c.68G>A:p.Arg23His	coding	Benign
5	36608492	T	A	T36608492A	SLC1A3	NM_004172.5(SLC1A3):c.69T>A:p.Arg23=	coding	Benign
5	36608502	C	T	C36608502T	SLC1A3	NM_004172.5(SLC1A3):c.79C>T:p.Leu27Phe	coding	Benign
5	36608591	C	T	C36608591T	SLC1A3	NM_004172.5(SLC1A3):c.168C>T:p.Thr56=	coding	Benign/Likely_benign
5	36629442	T	C	T36629442C	SLC1A3	NM_004172.5(SLC1A3):c.182-8T>C	noncoding	Benign
5	36629463	A	T	A36629463T	SLC1A3	NM_004172.5(SLC1A3):c.195A>T:p.Gly65=	coding	Benign
5	36629499	A	G	A36629499G	SLC1A3	NM_004172.5(SLC1A3):c.231A>G:p.Glu77=	coding	Benign/Likely_benign
5	36671022	C	T	C36671022T	SLC1A3	NM_004172.5(SLC1A3):c.320-7C>T	noncoding	Benign
5	36671051	G	A	G36671051A	SLC1A3	NM_004172.5(SLC1A3):c.342G>A:p.Lys114=	coding	Benign
5	36674080	T	A	T36674080A	SLC1A3	NM_004172.5(SLC1A3):c.556T>A:p.Cys186Ser	coding	Pathogenic
5	36676972	T	C	T36676972C	SLC1A3	NM_004172.5(SLC1A3):c.648T>C:p.Asn216=	coding	Benign
5	36676974	T	C	T36676974C	SLC1A3	NM_004172.5(SLC1A3):c.650T>C:p.Val217Ala	coding	Benign
5	36676981	G	C	G36676981C	SLC1A3	NM_004172.5(SLC1A3):c.657G>C:p.Glu219Asp	coding	Benign
5	36677000	C	G	C36677000G	SLC1A3	NM_004172.5(SLC1A3):c.676C>G:p.Arg226Gly	coding	Benign
5	36677035	T	C	T36677035C	SLC1A3	NM_004172.5(SLC1A3):c.711T>C:p.Ser237=	coding	Benign
5	36677116	G	A	G36677116A	SLC1A3	NM_004172.5(SLC1A3):c.792G>A:p.Gly264=	coding	Benign
5	36677165	C	T	C36677165T	SLC1A3	NM_004172.5(SLC1A3):c.841C>T:p.Leu281=	coding	Benign
5	36679635	C	G	C36679635G	SLC1A3	NM_004172.5(SLC1A3):c.869C>G:p.Pro290Arg	coding	Pathogenic
5	36679711	C	T	C36679711T	SLC1A3	NM_004172.5(SLC1A3):c.945C>T:p.Ala315=	coding	Benign
5	36679720	C	T	C36679720T	SLC1A3	NM_004172.5(SLC1A3):c.954C>T:p.Thr318=	coding	Benign
5	36679751	G	A	G36679751A	SLC1A3	NM_004172.5(SLC1A3):c.985G>A:p.Ala329Thr	coding	Benign/Likely_benign
5	36679840	C	T	C36679840T	SLC1A3	NM_004172.5(SLC1A3):c.1074C>T:p.Thr358=	coding	Benign
5	36679872	T	C	T36679872C	SLC1A3	NM_004172.5(SLC1A3):c.1094+12T>C	noncoding	Benign
5	36680454	G	A	G36680454A	SLC1A3	NM_004172.5(SLC1A3):c.1154G>A:p.Arg385His	coding	Benign
5	36683916	C	T	C36683916T	SLC1A3	NM_004172.5(SLC1A3):c.1342C>T:p.Leu448=	coding	Benign
5	36686129	T	C	T36686129C	SLC1A3	NM_004172.5(SLC1A3):c.1489T>C:p.Leu497=	coding	Benign/Likely_benign
5	36686302	G	A	G36686302A	SLC1A3	NM_004172.5(SLC1A3):c.*33G>A	noncoding	Benign
5	36686364	G	A	G36686364A	SLC1A3	NM_004172.5(SLC1A3):c.*95G>A	noncoding	Benign
5	36686402	A	G	A36686402G	SLC1A3	NM_004172.5(SLC1A3):c.*133A>G	noncoding	Benign
5	36686499	C	T	C36686499T	SLC1A3	NM_004172.5(SLC1A3):c.*230C>T	noncoding	Benign
5	36686500	G	A	G36686500A	SLC1A3	NM_004172.5(SLC1A3):c.*231G>A	noncoding	Benign
5	36686582	T	A	T36686582A	SLC1A3	NM_004172.5(SLC1A3):c.*313T>A	noncoding	Benign
5	36686720	A	G	A36686720G	SLC1A3	NM_004172.5(SLC1A3):c.*451A>G	noncoding	Benign
5	36686734	C	T	C36686734T	SLC1A3	NM_004172.5(SLC1A3):c.*465C>T	noncoding	Benign
5	36686784	A	C	A36686784C	SLC1A3	NM_004172.5(SLC1A3):c.*515A>C	noncoding	Benign
5	36686863	G	A	G36686863A	SLC1A3	NM_004172.5(SLC1A3):c.*594G>A	noncoding	Benign
5	36686905	G	A	G36686905A	SLC1A3	NM_004172.5(SLC1A3):c.*636G>A	noncoding	Benign
5	36686963	T	C	T36686963C	SLC1A3	NM_004172.5(SLC1A3):c.*694T>C	noncoding	Benign
5	36686964	G	C	G36686964C	SLC1A3	NM_004172.5(SLC1A3):c.*695G>C	noncoding	Benign
5	36687250	G	A	G36687250A	SLC1A3	NM_004172.5(SLC1A3):c.*981G>A	noncoding	Benign
5	36687291	G	A	G36687291A	SLC1A3	NM_004172.5(SLC1A3):c.*1022G>A	noncoding	Benign
5	36687297	A	G	A36687297G	SLC1A3	NM_004172.5(SLC1A3):c.*1028A>G	noncoding	Benign
5	36687319	G	C	G36687319C	SLC1A3	NM_004172.5(SLC1A3):c.*1050G>C	noncoding	Benign
5	36687350	C	T	C36687350T	SLC1A3	NM_004172.5(SLC1A3):c.*1081C>T	noncoding	Benign
5	36687622	A	G	A36687622G	SLC1A3	NM_004172.5(SLC1A3):c.*1353A>G	noncoding	Benign
5	36687650	A	G	A36687650G	SLC1A3	NM_004172.5(SLC1A3):c.*1381A>G	noncoding	Benign
5	36687684	G	A	G36687684A	SLC1A3	NM_004172.5(SLC1A3):c.*1415G>A	noncoding	Benign
5	36687754	C	T	C36687754T	SLC1A3	NM_004172.5(SLC1A3):c.*1485C>T	noncoding	Benign
5	36687925	G	C	G36687925C	SLC1A3	NM_004172.5(SLC1A3):c.*1656G>C	noncoding	Benign
5	36687996	A	G	A36687996G	SLC1A3	NM_004172.5(SLC1A3):c.*1727A>G	noncoding	Benign
5	36688016	G	A	G36688016A	SLC1A3	NM_004172.5(SLC1A3):c.*1747G>A	noncoding	Benign
5	36688344	A	G	A36688344G	SLC1A3	NC_000005.10:g.36688344A>G	noncoding	Benign
5	36876951	C	T	C36876951T	NIPBL	NM_133433.4(NIPBL):c.-307C>T	noncoding	Benign
5	36877015	A	C	A36877015C	NIPBL	NM_133433.4(NIPBL):c.-243A>C	noncoding	Benign
5	36953698	T	A	T36953698A	NIPBL	NM_133433.4(NIPBL):c.2T>A:p.Met1Lys	coding	Pathogenic
5	36953699	G	T	G36953699T	NIPBL	NM_133433.4(NIPBL):c.3G>T:p.Met1Ile	coding	Pathogenic
5	36953761	G	A	G36953761A	NIPBL	NM_133433.4(NIPBL):c.64+1G>A	coding	Pathogenic
5	36953763	A	C	A36953763C	NIPBL	NM_133433.4(NIPBL):c.64+3A>C	noncoding	Pathogenic
5	36955455	G	C	G36955455C	NIPBL	NM_133433.4(NIPBL):c.65-17G>C	noncoding	Benign
5	36955467	A	G	A36955467G	NIPBL	NM_133433.4(NIPBL):c.65-5A>G	noncoding	Pathogenic/Likely_pathogenic
5	36955469	T	G	T36955469G	NIPBL	NM_133433.4(NIPBL):c.65-3T>G	noncoding	Pathogenic
5	36955540	C	T	C36955540T	NIPBL	NM_133433.4(NIPBL):c.133C>T:p.Arg45Ter	coding	Pathogenic
5	36955552	G	T	G36955552T	NIPBL	NM_133433.4(NIPBL):c.145G>T:p.Glu49Ter	coding	Pathogenic
5	36955568	T	A	T36955568A	NIPBL	NM_133433.4(NIPBL):c.161T>A:p.Leu54Ter	coding	Pathogenic
5	36955586	A	G	A36955586G	NIPBL	NM_133433.4(NIPBL):c.179A>G:p.Asn60Ser	coding	Benign/Likely_benign
5	36955605	C	G	C36955605G	NIPBL	NM_133433.4(NIPBL):c.198C>G:p.Val66=	coding	Benign/Likely_benign
5	36955642	G	A	G36955642A	NIPBL	NM_133433.4(NIPBL):c.230+5G>A	noncoding	Pathogenic
5	36958167	C	T	C36958167T	NIPBL	NM_133433.4(NIPBL):c.294C>T:p.Ala98=	coding	Benign/Likely_benign
5	36958232	G	T	G36958232T	NIPBL	NM_133433.4(NIPBL):c.358+1G>T	coding	Pathogenic
5	36962121	A	G	A36962121G	NIPBL	NM_133433.4(NIPBL):c.459-2A>G	noncoding	Pathogenic
5	36962198	C	T	C36962198T	NIPBL	NM_133433.4(NIPBL):c.534C>T:p.Tyr178=	coding	Benign/Likely_benign
5	36962199	G	A	G36962199A	NIPBL	NM_133433.4(NIPBL):c.535G>A:p.Ala179Thr	coding	Benign/Likely_benign
5	36962249	C	G	C36962249G	NIPBL	NM_133433.4(NIPBL):c.585C>G:p.Tyr195Ter	coding	Pathogenic
5	36962262	C	T	C36962262T	NIPBL	NM_133433.4(NIPBL):c.598C>T:p.Gln200Ter	coding	Pathogenic
5	36962275	G	A	G36962275A	NIPBL	NM_133433.4(NIPBL):c.610+1G>A	coding	Pathogenic
5	36971002	A	G	A36971002G	NIPBL	NM_133433.4(NIPBL):c.737A>G:p.Asp246Gly	coding	Pathogenic
5	36971037	G	A	G36971037A	NIPBL	NM_133433.4(NIPBL):c.771+1G>A	coding	Pathogenic
5	36971944	G	A	G36971944A	NIPBL	NM_133433.4(NIPBL):c.772-1G>A	noncoding	Pathogenic
5	36971954	T	G	T36971954G	NIPBL	NM_133433.4(NIPBL):c.781T>G:p.Ser261Ala	coding	Benign
5	36971977	A	G	A36971977G	NIPBL	NM_133433.4(NIPBL):c.804A>G:p.Ala268=	coding	Benign/Likely_benign
5	36975775	G	A	G36975775A	NIPBL	NM_133433.4(NIPBL):c.869-1G>A	noncoding	Pathogenic
5	36975799	C	T	C36975799T	NIPBL	NM_133433.4(NIPBL):c.892C>T:p.Gln298Ter	coding	Pathogenic
5	36975821	C	A	C36975821A	NIPBL	NM_133433.4(NIPBL):c.914C>A:p.Ser305Ter	coding	Pathogenic
5	36975829	C	T	C36975829T	NIPBL	NM_133433.4(NIPBL):c.922C>T:p.Arg308Ter	coding	Pathogenic
5	36975963	C	T	C36975963T	NIPBL	NM_133433.4(NIPBL):c.1056C>T:p.Ser352=	coding	Benign/Likely_benign
5	36975964	A	T	A36975964T	NIPBL	NM_133433.4(NIPBL):c.1057A>T:p.Lys353Ter	coding	Pathogenic
5	36976057	A	G	A36976057G	NIPBL	NM_133433.4(NIPBL):c.1150A>G:p.Asn384Asp	coding	Benign
5	36976058	A	G	A36976058G	NIPBL	NM_133433.4(NIPBL):c.1151A>G:p.Asn384Ser	coding	Benign/Likely_benign
5	36976090	C	T	C36976090T	NIPBL	NM_133433.4(NIPBL):c.1183C>T:p.Gln395Ter	coding	Pathogenic
5	36976204	C	T	C36976204T	NIPBL	NM_133433.4(NIPBL):c.1297C>T:p.Gln433Ter	coding	Pathogenic
5	36976279	C	T	C36976279T	NIPBL	NM_133433.4(NIPBL):c.1372C>T:p.Gln458Ter	coding	Pathogenic
5	36976342	C	T	C36976342T	NIPBL	NM_133433.4(NIPBL):c.1435C>T:p.Arg479Ter	coding	Pathogenic
5	36976358	C	G	C36976358G	NIPBL	NM_133433.4(NIPBL):c.1451C>G:p.Ser484Ter	coding	Pathogenic
5	36984756	C	T	C36984756T	NIPBL	NM_133433.4(NIPBL):c.1576C>T:p.Gln526Ter	coding	Pathogenic
5	36984840	C	T	C36984840T	NIPBL	NM_133433.4(NIPBL):c.1660C>T:p.Gln554Ter	coding	Pathogenic/Likely_pathogenic
5	36985065	C	T	C36985065T	NIPBL	NM_133433.4(NIPBL):c.1885C>T:p.Arg629Ter	coding	Pathogenic
5	36985145	G	T	G36985145T	NIPBL	NM_133433.4(NIPBL):c.1965G>T:p.Glu655Asp	coding	Benign/Likely_benign
5	36985165	A	G	A36985165G	NIPBL	NM_133433.4(NIPBL):c.1985A>G:p.Lys662Arg	coding	Benign/Likely_benign
5	36985201	A	G	A36985201G	NIPBL	NM_133433.4(NIPBL):c.2021A>G:p.Asn674Ser	coding	Benign
5	36985273	C	G	C36985273G	NIPBL	NM_133433.4(NIPBL):c.2093C>G:p.Ser698Ter	coding	Pathogenic
5	36985440	C	T	C36985440T	NIPBL	NM_133433.4(NIPBL):c.2260C>T:p.Arg754Ter	coding	Pathogenic
5	36985505	A	G	A36985505G	NIPBL	NM_133433.4(NIPBL):c.2325A>G:p.Lys775=	coding	Benign
5	36985569	C	T	C36985569T	NIPBL	NM_133433.4(NIPBL):c.2389C>T:p.Arg797Ter	coding	Pathogenic
5	36985602	C	T	C36985602T	NIPBL	NM_133433.4(NIPBL):c.2422C>T:p.Arg808Ter	coding	Pathogenic
5	36985631	C	T	C36985631T	NIPBL	NM_133433.4(NIPBL):c.2451C>T:p.Asp817=	coding	Benign
5	36985649	A	G	A36985649G	NIPBL	NM_133433.4(NIPBL):c.2469A>G:p.Lys823=	coding	Benign
5	36985669	C	G	C36985669G	NIPBL	NM_133433.4(NIPBL):c.2489C>G:p.Ser830Ter	coding	Pathogenic
5	36985674	C	T	C36985674T	NIPBL	NM_133433.4(NIPBL):c.2494C>T:p.Arg832Ter	coding	Pathogenic
5	36985680	C	T	C36985680T	NIPBL	NM_133433.4(NIPBL):c.2500C>T:p.Arg834Ter	coding	Pathogenic
5	36985701	C	T	C36985701T	NIPBL	NM_133433.4(NIPBL):c.2521C>T:p.Arg841Ter	coding	Pathogenic
5	36985782	C	T	C36985782T	NIPBL	NM_133433.4(NIPBL):c.2602C>T:p.Arg868Ter	coding	Pathogenic
5	36985907	T	C	T36985907C	NIPBL	NM_133433.4(NIPBL):c.2727T>C:p.Gly909=	coding	Benign/Likely_benign
5	36985952	C	T	C36985952T	NIPBL	NM_133433.4(NIPBL):c.2772C>T:p.Asn924=	coding	Benign
5	36986012	T	A	T36986012A	NIPBL	NM_133433.4(NIPBL):c.2832T>A:p.Tyr944Ter	coding	Pathogenic
5	36986195	A	G	A36986195G	NIPBL	NM_133433.4(NIPBL):c.3015A>G:p.Leu1005=	coding	Benign
5	36986287	C	G	C36986287G	NIPBL	NM_133433.4(NIPBL):c.3107C>G:p.Ser1036Ter	coding	Pathogenic
5	36986312	T	G	T36986312G	NIPBL	NM_133433.4(NIPBL):c.3121+11T>G	noncoding	Benign
5	36995648	G	T	G36995648T	NIPBL	NM_133433.4(NIPBL):c.3148G>T:p.Glu1050Ter	coding	Pathogenic
5	36995805	G	A	G36995805A	NIPBL	NM_133433.4(NIPBL):c.3304+1G>A	coding	Pathogenic
5	37000372	G	T	G37000372T	NIPBL	NM_133433.4(NIPBL):c.3305-1G>T	noncoding	Pathogenic
5	37000390	A	T	A37000390T	NIPBL	NM_133433.4(NIPBL):c.3322A>T:p.Lys1108Ter	coding	Pathogenic
5	37000507	C	T	C37000507T	NIPBL	NM_133433.4(NIPBL):c.3439C>T:p.Arg1147Ter	coding	Pathogenic
5	37000513	C	T	C37000513T	NIPBL	NM_133433.4(NIPBL):c.3445C>T:p.Arg1149Ter	coding	Pathogenic
5	37000523	C	G	C37000523G	NIPBL	NM_133433.4(NIPBL):c.3455C>G:p.Ser1152Ter	coding	Pathogenic
5	37000587	A	C	A37000587C	NIPBL	NM_133433.4(NIPBL):c.3502+17A>C	noncoding	Benign/Likely_benign
5	37000855	A	C	A37000855C	NIPBL	NM_133433.4(NIPBL):c.3541A>C:p.Arg1181=	coding	Benign
5	37000972	A	G	A37000972G	NIPBL	NM_133433.4(NIPBL):c.3575-17A>G	noncoding	Benign/Likely_benign
5	37000986	C	G	C37000986G	NIPBL	NM_133433.4(NIPBL):c.3575-3C>G	noncoding	Pathogenic
5	37001030	A	G	A37001030G	NIPBL	NM_133433.4(NIPBL):c.3616A>G:p.Ile1206Val	coding	Benign
5	37002695	T	G	T37002695G	NIPBL	NM_133433.4(NIPBL):c.3698T>G:p.Leu1233Ter	coding	Pathogenic
5	37002734	C	G	C37002734G	NIPBL	NM_133433.4(NIPBL):c.3737C>G:p.Ala1246Gly	coding	Pathogenic
5	37003348	G	A	G37003348A	NIPBL	NM_133433.4(NIPBL):c.3855+1G>A	coding	Pathogenic
5	37003348	G	T	G37003348T	NIPBL	NM_133433.4(NIPBL):c.3855+1G>T	coding	Pathogenic
5	37003349	T	C	T37003349C	NIPBL	NM_133433.4(NIPBL):c.3855+2T>C	noncoding	Pathogenic
5	37003399	A	G	A37003399G	NIPBL	NM_133433.4(NIPBL):c.3855+52A>G	noncoding	Benign
5	37006362	C	T	C37006362T	NIPBL	NM_133433.4(NIPBL):c.3861C>T:p.Asn1287=	coding	Benign
5	37006375	G	T	G37006375T	NIPBL	NM_133433.4(NIPBL):c.3874G>T:p.Glu1292Ter	coding	Pathogenic
5	37006398	T	C	T37006398C	NIPBL	NM_133433.4(NIPBL):c.3897T>C:p.Leu1299=	coding	Benign/Likely_benign
5	37006489	G	T	G37006489T	NIPBL	NM_133433.4(NIPBL):c.3988G>T:p.Glu1330Ter	coding	Pathogenic
5	37006518	C	A	C37006518A	NIPBL	NM_133433.4(NIPBL):c.4017C>A:p.Tyr1339Ter	coding	Pathogenic
5	37007321	A	T	A37007321T	NIPBL	NM_133433.4(NIPBL):c.4088-2A>T	noncoding	Pathogenic
5	37007527	T	C	T37007527C	NIPBL	NM_133433.4(NIPBL):c.4239+53T>C	noncoding	Benign
5	37007994	T	G	T37007994G	NIPBL	NM_133433.4(NIPBL):c.4240-14T>G	noncoding	Benign
5	37008007	G	C	G37008007C	NIPBL	NM_133433.4(NIPBL):c.4240-1G>C	noncoding	Pathogenic
5	37008013	A	C	A37008013C	NIPBL	NM_133433.4(NIPBL):c.4245A>C:p.Ser1415=	coding	Benign/Likely_benign
5	37008089	G	A	G37008089A	NIPBL	NM_133433.4(NIPBL):c.4320+1G>A	coding	Pathogenic
5	37008102	A	G	A37008102G	NIPBL	NM_133433.4(NIPBL):c.4320+14A>G	noncoding	Benign/Likely_benign
5	37008623	G	T	G37008623T	NIPBL	NM_133433.4(NIPBL):c.4321G>T:p.Val1441Leu	coding	Pathogenic
5	37008730	A	G	A37008730G	NIPBL	NM_133433.4(NIPBL):c.4421+7A>G	noncoding	Benign
5	37010160	C	T	C37010160T	NIPBL	NM_133433.4(NIPBL):c.4495C>T:p.Gln1499Ter	coding	Pathogenic
5	37010176	T	A	T37010176A	NIPBL	NM_133433.4(NIPBL):c.4511T>A:p.Leu1504Ter	coding	Pathogenic
5	37010208	G	T	G37010208T	NIPBL	NM_133433.4(NIPBL):c.4543G>T:p.Glu1515Ter	coding	Pathogenic
5	37010215	C	G	C37010215G	NIPBL	NM_133433.4(NIPBL):c.4550C>G:p.Ser1517Ter	coding	Pathogenic
5	37014667	C	T	C37014667T	NIPBL	NM_133433.4(NIPBL):c.4561-16C>T	noncoding	Benign
5	37014674	T	A	T37014674A	NIPBL	NM_133433.4(NIPBL):c.4561-9T>A	noncoding	Benign/Likely_benign
5	37014715	T	G	T37014715G	NIPBL	NM_133433.4(NIPBL):c.4593T>G:p.Tyr1531Ter	coding	Pathogenic
5	37014728	C	T	C37014728T	NIPBL	NM_133433.4(NIPBL):c.4606C>T:p.Arg1536Ter	coding	Pathogenic
5	37014766	G	C	G37014766C	NIPBL	NM_133433.4(NIPBL):c.4643+1G>C	coding	Pathogenic
5	37016068	C	T	C37016068T	NIPBL	NM_133433.4(NIPBL):c.4674C>T:p.Tyr1558=	coding	Benign
5	37016106	C	A	C37016106A	NIPBL	NM_133433.4(NIPBL):c.4712C>A:p.Ser1571Ter	coding	Pathogenic
5	37016167	G	T	G37016167T	NIPBL	NM_133433.4(NIPBL):c.4773G>T:p.Leu1591=	coding	Benign
5	37019252	G	A	G37019252A	NIPBL	NM_133433.4(NIPBL):c.4921-59G>A	noncoding	Benign
5	37019349	A	G	A37019349G	NIPBL	NM_133433.4(NIPBL):c.4959A>G:p.Lys1653=	coding	Benign/Likely_benign
5	37019409	C	A	C37019409A	NIPBL	NM_133433.4(NIPBL):c.5010+9C>A	noncoding	Benign
5	37020492	C	T	C37020492T	NIPBL	NM_133433.4(NIPBL):c.5044C>T:p.Arg1682Ter	coding	Pathogenic
5	37020615	C	T	C37020615T	NIPBL	NM_133433.4(NIPBL):c.5167C>T:p.Arg1723Ter	coding	Pathogenic
5	37020659	G	A	G37020659A	NIPBL	NM_133433.4(NIPBL):c.5211G>A:p.Gln1737=	coding	Benign
5	37020686	G	A	G37020686A	NIPBL	NM_133433.4(NIPBL):c.5225+13G>A	noncoding	Benign
5	37020811	C	A	C37020811A	NIPBL	NM_133433.4(NIPBL):c.5262C>A:p.Cys1754Ter	coding	Pathogenic
5	37020821	C	A	C37020821A	NIPBL	NM_133433.4(NIPBL):c.5272C>A:p.Arg1758=	coding	Benign
5	37020878	G	A	G37020878A	NIPBL	NM_133433.4(NIPBL):c.5328+1G>A	coding	Pathogenic
5	37022036	A	G	A37022036G	NIPBL	NM_133433.4(NIPBL):c.5329-15A>G	noncoding	Pathogenic
5	37022050	G	C	G37022050C	NIPBL	NM_133433.4(NIPBL):c.5329-1G>C	noncoding	Pathogenic
5	37022057	C	T	C37022057T	NIPBL	NM_133433.4(NIPBL):c.5335C>T:p.Arg1779Ter	coding	Pathogenic
5	37022087	C	T	C37022087T	NIPBL	NM_133433.4(NIPBL):c.5365C>T:p.Arg1789Ter	coding	Pathogenic
5	37022242	A	G	A37022242G	NIPBL	NM_133433.4(NIPBL):c.5428-2A>G	noncoding	Pathogenic
5	37022256	C	T	C37022256T	NIPBL	NM_133433.4(NIPBL):c.5440C>T:p.Arg1814Ter	coding	Pathogenic
5	37022271	C	T	C37022271T	NIPBL	NM_133433.4(NIPBL):c.5455C>T:p.Arg1819Ter	coding	Pathogenic
5	37022298	C	T	C37022298T	NIPBL	NM_133433.4(NIPBL):c.5482C>T:p.Arg1828Ter	coding	Pathogenic
5	37022299	G	A	G37022299A	NIPBL	NM_133433.4(NIPBL):c.5483G>A:p.Arg1828Gln	coding	Pathogenic
5	37022325	C	T	C37022325T	NIPBL	NM_133433.4(NIPBL):c.5509C>T:p.Arg1837Ter	coding	Pathogenic
5	37022383	G	T	G37022383T	NIPBL	NM_133433.4(NIPBL):c.5567G>T:p.Arg1856Ile	coding	Pathogenic
5	37024392	T	C	T37024392C	NIPBL	NM_133433.4(NIPBL):c.5575-193T>C	noncoding	Benign
5	37024720	G	A	G37024720A	NIPBL	NM_133433.4(NIPBL):c.5709+1G>A	coding	Pathogenic
5	37024721	T	G	T37024721G	NIPBL	NM_133433.4(NIPBL):c.5709+2T>G	noncoding	Pathogenic
5	37024726	T	G	T37024726G	NIPBL	NM_133433.4(NIPBL):c.5709+7T>G	noncoding	Benign
5	37026216	C	T	C37026216T	NIPBL	NM_133433.4(NIPBL):c.5710-13C>T	noncoding	Benign
5	37026328	G	A	G37026328A	NIPBL	NM_133433.4(NIPBL):c.5808+1G>A	coding	Pathogenic
5	37026329	T	G	T37026329G	NIPBL	NM_133433.4(NIPBL):c.5808+2T>G	noncoding	Pathogenic
5	37027156	C	A	C37027156A	NIPBL	NM_133433.4(NIPBL):c.5809-203C>A	noncoding	Benign
5	37027413	G	A	G37027413A	NIPBL	NM_133433.4(NIPBL):c.5862+1G>A	coding	Pathogenic
5	37036390	C	T	C37036390T	NIPBL	NM_133433.4(NIPBL):c.5874C>T:p.Ser1958=	coding	Benign
5	37038687	C	T	C37038687T	NIPBL	NM_133433.4(NIPBL):c.6057C>T:p.Leu2019=	coding	Benign
5	37038712	C	T	C37038712T	NIPBL	NM_133433.4(NIPBL):c.6082C>T:p.Gln2028Ter	coding	Pathogenic
5	37038739	G	C	G37038739C	NIPBL	NM_133433.4(NIPBL):c.6108+1G>C	coding	Pathogenic
5	37038739	G	T	G37038739T	NIPBL	NM_133433.4(NIPBL):c.6108+1G>T	coding	Pathogenic
5	37038740	T	C	T37038740C	NIPBL	NM_133433.4(NIPBL):c.6108+2T>C	noncoding	Pathogenic
5	37044344	T	C	T37044344C	NIPBL	NM_133433.4(NIPBL):c.6109-3T>C	noncoding	Benign/Likely_benign
5	37044394	G	C	G37044394C	NIPBL	NM_133433.4(NIPBL):c.6156G>C:p.Glu2052Asp	coding	Pathogenic
5	37045739	A	G	A37045739G	NIPBL	NM_133433.4(NIPBL):c.6498+142A>G	noncoding	Benign
5	37046175	C	T	C37046175T	NIPBL	NM_133433.4(NIPBL):c.6565C>T:p.Gln2189Ter	coding	Pathogenic
5	37046181	A	T	A37046181T	NIPBL	NM_133433.4(NIPBL):c.6571A>T:p.Lys2191Ter	coding	Pathogenic
5	37046204	G	A	G37046204A	NIPBL	NM_133433.4(NIPBL):c.6589+5G>A	noncoding	Pathogenic
5	37048500	A	C	A37048500C	NIPBL	NM_133433.4(NIPBL):c.6590-2A>C	noncoding	Pathogenic
5	37048502	G	A	G37048502A	NIPBL	NM_133433.4(NIPBL):c.6590G>A:p.Gly2197Glu	coding	Pathogenic
5	37048543	G	T	G37048543T	NIPBL	NM_133433.4(NIPBL):c.6631G>T:p.Glu2211Ter	coding	Pathogenic
5	37048547	T	A	T37048547A	NIPBL	NM_133433.4(NIPBL):c.6635T>A:p.Val2212Glu	coding	Pathogenic
5	37048613	T	G	T37048613G	NIPBL	NM_133433.4(NIPBL):c.6701T>G:p.Leu2234Ter	coding	Pathogenic
5	37048676	G	A	G37048676A	NIPBL	NM_133433.4(NIPBL):c.6763+1G>A	coding	Pathogenic
5	37049143	G	T	G37049143T	NIPBL	NM_133433.4(NIPBL):c.6796G>T:p.Glu2266Ter	coding	Pathogenic
5	37049239	C	G	C37049239G	NIPBL	NM_133433.4(NIPBL):c.6892C>G:p.Arg2298Gly	coding	Pathogenic
5	37049239	C	T	C37049239T	NIPBL	NM_133433.4(NIPBL):c.6892C>T:p.Arg2298Cys	coding	Pathogenic
5	37049240	G	A	G37049240A	NIPBL	NM_133433.4(NIPBL):c.6893G>A:p.Arg2298His	coding	Pathogenic
5	37049299	C	T	C37049299T	NIPBL	NM_133433.4(NIPBL):c.6952C>T:p.Gln2318Ter	coding	Pathogenic
5	37049302	G	A	G37049302A	NIPBL	NM_133433.4(NIPBL):c.6954+1G>A	coding	Pathogenic
5	37051871	T	G	T37051871G	NIPBL	NM_133433.4(NIPBL):c.7047T>G:p.Tyr2349Ter	coding	Pathogenic
5	37051888	T	C	T37051888C	NIPBL	NM_133433.4(NIPBL):c.7062+2T>C	noncoding	Pathogenic
5	37052405	C	T	C37052405T	NIPBL	NM_133433.4(NIPBL):c.7102C>T:p.Gln2368Ter	coding	Pathogenic
5	37052453	C	T	C37052453T	NIPBL	NM_133433.4(NIPBL):c.7150C>T:p.Gln2384Ter	coding	Pathogenic
5	37052471	G	A	G37052471A	NIPBL	NM_133433.4(NIPBL):c.7168G>A:p.Ala2390Thr	coding	Pathogenic/Likely_pathogenic
5	37052522	C	T	C37052522T	NIPBL	NM_133433.4(NIPBL):c.7219C>T:p.Arg2407Ter	coding	Pathogenic
5	37052570	A	C	A37052570C	NIPBL	NM_133433.4(NIPBL):c.7263+4A>C	noncoding	Pathogenic
5	37057180	T	G	T37057180G	NIPBL	NM_133433.4(NIPBL):c.7264-6T>G	noncoding	Pathogenic
5	37057211	A	G	A37057211G	NIPBL	NM_133433.4(NIPBL):c.7289A>G:p.Tyr2430Cys	coding	Pathogenic
5	37057249	C	T	C37057249T	NIPBL	NM_133433.4(NIPBL):c.7327C>T:p.Gln2443Ter	coding	Pathogenic
5	37059117	T	C	T37059117C	NIPBL	NM_133433.4(NIPBL):c.7637T>C:p.Leu2546Pro	coding	Pathogenic
5	37060988	G	C	G37060988C	NIPBL	NM_133433.4(NIPBL):c.7830G>C:p.Val2610=	coding	Benign/Likely_benign
5	37061007	C	T	C37061007T	NIPBL	NM_133433.4(NIPBL):c.7849C>T:p.Gln2617Ter	coding	Pathogenic
5	37061027	T	G	T37061027G	NIPBL	NM_133433.4(NIPBL):c.7860+9T>G	noncoding	Benign
5	37061159	A	G	A37061159G	NIPBL	NM_133433.4(NIPBL):c.7860+141A>G	noncoding	Benign
5	37063789	G	C	G37063789C	NIPBL	NM_133433.4(NIPBL):c.7861-1G>C	noncoding	Pathogenic
5	37063863	C	T	C37063863T	NIPBL	NM_133433.4(NIPBL):c.7934C>T:p.Ala2645Val	coding	Benign
5	37064562	G	A	G37064562A	NIPBL	NM_133433.4(NIPBL):c.8085G>A:p.Thr2695=	coding	Benign/Likely_benign
5	37064814	G	A	G37064814A	NIPBL	NM_133433.4(NIPBL):c.8337G>A:p.Thr2779=	coding	Benign/Likely_benign
5	37064854	C	T	C37064854T	NIPBL	NM_133433.4(NIPBL):c.8377C>T:p.Arg2793Ter	coding	Pathogenic
5	37106713	T	C	T37106713C	CPLANE1	NM_023073.3(CPLANE1):c.*889A>G	noncoding	Benign
5	37106961	G	A	G37106961A	CPLANE1	NM_023073.3(CPLANE1):c.*641C>T	noncoding	Benign
5	37107161	T	G	T37107161G	CPLANE1	NM_023073.3(CPLANE1):c.*441A>C	noncoding	Benign
5	37108406	G	A	G37108406A	CPLANE1	NM_023073.3(CPLANE1):c.9304C>T:p.Gln3102Ter	coding	Pathogenic
5	37115014	C	T	C37115014T	CPLANE1	NM_023073.3(CPLANE1):c.9184G>A:p.Gly3062Arg	coding	Benign
5	37120306	G	A	G37120306A	CPLANE1	NM_023073.3(CPLANE1):c.9058C>T:p.Arg3020Ter	coding	Pathogenic
5	37121664	G	C	G37121664C	CPLANE1	NM_023073.3(CPLANE1):c.8976C>G:p.Pro2992=	coding	Benign
5	37122429	C	A	C37122429A	CPLANE1	NM_023073.3(CPLANE1):c.8855+1G>T	noncoding	Pathogenic
5	37122429	C	T	C37122429T	CPLANE1	NM_023073.3(CPLANE1):c.8855+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	37125255	T	A	T37125255A	CPLANE1	NM_023073.3(CPLANE1):c.8785A>T:p.Arg2929Ter	coding	Pathogenic
5	37125324	C	A	C37125324A	CPLANE1	NM_023073.3(CPLANE1):c.8716G>T:p.Glu2906Ter	coding	Pathogenic
5	37125330	G	A	G37125330A	CPLANE1	NM_023073.3(CPLANE1):c.8710C>T:p.Arg2904Ter	coding	Pathogenic
5	37138719	C	A	C37138719A	CPLANE1	NM_023073.3(CPLANE1):c.8630+1G>T	noncoding	Pathogenic
5	37138742	C	A	C37138742A	CPLANE1	NM_023073.3(CPLANE1):c.8608G>T:p.Glu2870Ter	coding	Pathogenic/Likely_pathogenic
5	37138743	T	C	T37138743C	CPLANE1	NM_023073.3(CPLANE1):c.8607A>G:p.Thr2869=	coding	Benign
5	37138851	T	A	T37138851A	CPLANE1	NM_023073.3(CPLANE1):c.8502-3A>T	noncoding	Benign
5	37139189	T	G	T37139189G	CPLANE1	NM_023073.3(CPLANE1):c.8501+151A>C	noncoding	Benign
5	37139339	C	A	C37139339A	CPLANE1	NM_023073.3(CPLANE1):c.8501+1G>T	noncoding	Pathogenic
5	37139371	C	G	C37139371G	CPLANE1	NM_023073.3(CPLANE1):c.8471-1G>C	coding	Pathogenic
5	37142374	C	G	C37142374G	CPLANE1	NM_023073.3(CPLANE1):c.8406G>C:p.Val2802=	coding	Benign
5	37142676	G	A	G37142676A	CPLANE1	NM_023073.3(CPLANE1):c.8300-196C>T	noncoding	Benign
5	37148283	C	T	C37148283T	CPLANE1	NM_023073.3(CPLANE1):c.8212-15G>A	noncoding	Benign
5	37153769	G	T	G37153769T	CPLANE1	NM_023073.3(CPLANE1):c.8182C>A:p.Pro2728Thr	coding	Benign/Likely_benign
5	37153784	G	A	G37153784A	CPLANE1	NM_023073.3(CPLANE1):c.8167C>T:p.Gln2723Ter	coding	Pathogenic
5	37153827	G	A	G37153827A	CPLANE1	NM_023073.3(CPLANE1):c.8124C>T:p.Asp2708=	coding	Benign/Likely_benign
5	37153973	G	A	G37153973A	CPLANE1	NM_023073.3(CPLANE1):c.7978C>T:p.Arg2660Ter	coding	Pathogenic
5	37154325	A	G	A37154325G	CPLANE1	NM_023073.3(CPLANE1):c.7958-332T>C	noncoding	Benign
5	37157761	G	A	G37157761A	CPLANE1	NM_023073.3(CPLANE1):c.7866C>T:p.Ser2622=	coding	Benign/Likely_benign
5	37157810	A	T	A37157810T	CPLANE1	NM_023073.3(CPLANE1):c.7817T>A:p.Leu2606Ter	coding	Pathogenic
5	37158258	C	T	C37158258T	CPLANE1	NM_023073.3(CPLANE1):c.7778G>A:p.Trp2593Ter	coding	Pathogenic
5	37158261	G	A	G37158261A	CPLANE1	NM_023073.3(CPLANE1):c.7775C>T:p.Pro2592Leu	coding	Benign
5	37165595	G	A	G37165595A	CPLANE1	NM_023073.3(CPLANE1):c.7477C>T:p.Arg2493Ter	coding	Pathogenic
5	37167046	C	T	C37167046T	CPLANE1	NM_023073.3(CPLANE1):c.7400+1G>A	noncoding	Pathogenic
5	37167220	G	C	G37167220C	CPLANE1	NM_023073.3(CPLANE1):c.7234-7C>G	noncoding	Benign/Likely_benign
5	37169067	T	C	T37169067C	CPLANE1	NM_023073.3(CPLANE1):c.6957A>G:p.Gln2319=	coding	Benign/Likely_benign
5	37169119	G	A	G37169119A	CPLANE1	NM_023073.3(CPLANE1):c.6905C>T:p.Thr2302Met	coding	Benign/Likely_benign
5	37169164	C	T	C37169164T	CPLANE1	NM_023073.3(CPLANE1):c.6860G>A:p.Ser2287Asn	coding	Benign
5	37170060	T	C	T37170060C	CPLANE1	NM_023073.3(CPLANE1):c.6443A>G:p.Asn2148Ser	coding	Benign/Likely_benign
5	37170076	T	C	T37170076C	CPLANE1	NM_023073.3(CPLANE1):c.6427A>G:p.Ile2143Val	coding	Benign
5	37173828	A	C	A37173828C	CPLANE1	NM_023073.3(CPLANE1):c.6098T>G:p.Phe2033Cys	coding	Benign
5	37173875	A	G	A37173875G	CPLANE1	NM_023073.3(CPLANE1):c.6051T>C:p.Ala2017=	coding	Benign
5	37175989	A	G	A37175989G	CPLANE1	NM_023073.3(CPLANE1):c.5901-3T>C	noncoding	Benign
5	37177614	C	A	C37177614A	CPLANE1	NM_023073.3(CPLANE1):c.5900+7G>T	noncoding	Benign
5	37177926	A	G	A37177926G	CPLANE1	NM_023073.3(CPLANE1):c.5821-226T>C	noncoding	Benign
5	37179354	G	A	G37179354A	CPLANE1	NM_023073.3(CPLANE1):c.5820+7C>T	noncoding	Benign/Likely_benign
5	37179449	G	A	G37179449A	CPLANE1	NM_023073.3(CPLANE1):c.5738-6C>T	noncoding	Benign/Likely_benign
5	37180021	A	C	A37180021C	CPLANE1	NM_023073.3(CPLANE1):c.5733T>G:p.Tyr1911Ter	coding	Pathogenic
5	37180870	G	A	G37180870A	CPLANE1	NM_023073.3(CPLANE1):c.5557C>T:p.Gln1853Ter	coding	Pathogenic
5	37180915	T	C	T37180915C	CPLANE1	NM_023073.3(CPLANE1):c.5512A>G:p.Thr1838Ala	coding	Benign
5	37182800	G	A	G37182800A	CPLANE1	NM_023073.3(CPLANE1):c.5381C>T:p.Pro1794Leu	coding	Benign
5	37182838	T	A	T37182838A	CPLANE1	NM_023073.3(CPLANE1):c.5343A>T:p.Thr1781=	coding	Benign
5	37182867	T	C	T37182867C	CPLANE1	NM_023073.3(CPLANE1):c.5314A>G:p.Ser1772Gly	coding	Benign
5	37183195	T	G	T37183195G	CPLANE1	NM_023073.3(CPLANE1):c.4986A>C:p.Gln1662His	coding	Benign/Likely_benign
5	37183234	T	C	T37183234C	CPLANE1	NM_023073.3(CPLANE1):c.4947A>G:p.Ser1649=	coding	Benign/Likely_benign
5	37183377	G	A	G37183377A	CPLANE1	NM_023073.3(CPLANE1):c.4804C>T:p.Arg1602Ter	coding	Pathogenic
5	37183462	G	A	G37183462A	CPLANE1	NM_023073.3(CPLANE1):c.4719C>T:p.Asp1573=	coding	Benign/Likely_benign
5	37183483	T	C	T37183483C	CPLANE1	NM_023073.3(CPLANE1):c.4698A>G:p.Leu1566=	coding	Benign/Likely_benign
5	37184959	A	G	A37184959G	CPLANE1	NM_023073.3(CPLANE1):c.4310T>C:p.Ile1437Thr	coding	Benign
5	37186341	A	G	A37186341G	CPLANE1	NM_023073.3(CPLANE1):c.4134T>C:p.Pro1378=	coding	Benign/Likely_benign
5	37187223	C	T	C37187223T	CPLANE1	NM_023073.3(CPLANE1):c.4080+191G>A	noncoding	Benign
5	37187387	G	A	G37187387A	CPLANE1	NM_023073.3(CPLANE1):c.4080+27C>T	noncoding	Benign
5	37187488	G	A	G37187488A	CPLANE1	NM_023073.3(CPLANE1):c.4006C>T:p.Arg1336Trp	coding	Pathogenic/Likely_pathogenic
5	37187795	C	G	C37187795G	CPLANE1	NM_023073.3(CPLANE1):c.3859G>C:p.Asp1287His	coding	Pathogenic
5	37195874	A	T	A37195874T	CPLANE1	NM_023073.3(CPLANE1):c.3795T>A:p.Val1265=	coding	Benign
5	37195926	C	T	C37195926T	CPLANE1	NM_023073.3(CPLANE1):c.3743G>A:p.Gly1248Asp	coding	Benign/Likely_benign
5	37195997	C	G	C37195997G	CPLANE1	NM_023073.3(CPLANE1):c.3673-1G>C	coding	Pathogenic
5	37198797	G	A	G37198797A	CPLANE1	NM_023073.3(CPLANE1):c.3577C>T:p.Arg1193Cys	coding	Pathogenic/Likely_pathogenic
5	37201590	C	T	C37201590T	CPLANE1	NM_023073.3(CPLANE1):c.3507+1G>A	noncoding	Pathogenic
5	37201718	G	T	G37201718T	CPLANE1	NM_023073.3(CPLANE1):c.3380C>A:p.Ser1127Ter	coding	Pathogenic
5	37201810	T	C	T37201810C	CPLANE1	NM_023073.3(CPLANE1):c.3290-2A>G	noncoding	Pathogenic
5	37201982	G	T	G37201982T	CPLANE1	NM_023073.3(CPLANE1):c.3290-174C>A	noncoding	Benign
5	37205364	G	A	G37205364A	CPLANE1	NM_023073.3(CPLANE1):c.3240C>T:p.Ala1080=	coding	Benign
5	37205455	C	A	C37205455A	CPLANE1	NM_023073.3(CPLANE1):c.3150-1G>T	coding	Pathogenic
5	37206339	C	A	C37206339A	CPLANE1	NM_023073.3(CPLANE1):c.3007G>T:p.Glu1003Ter	coding	Pathogenic
5	37206347	C	A	C37206347A	CPLANE1	NM_023073.3(CPLANE1):c.2999G>T:p.Trp1000Leu	coding	Pathogenic
5	37206414	G	A	G37206414A	CPLANE1	NM_023073.3(CPLANE1):c.2932C>T:p.Arg978Ter	coding	Pathogenic
5	37206423	G	A	G37206423A	CPLANE1	NM_023073.3(CPLANE1):c.2923C>T:p.Gln975Ter	coding	Pathogenic
5	37213648	C	T	C37213648T	CPLANE1	NM_023073.3(CPLANE1):c.2831G>A:p.Arg944His	coding	Pathogenic
5	37221361	C	T	C37221361T	CPLANE1	NM_023073.3(CPLANE1):c.2709G>A:p.Trp903Ter	coding	Pathogenic
5	37221459	G	A	G37221459A	CPLANE1	NM_023073.3(CPLANE1):c.2611C>T:p.Arg871Cys	coding	Pathogenic
5	37224383	T	C	T37224383C	CPLANE1	NM_023073.3(CPLANE1):c.2501-50A>G	noncoding	Benign
5	37224655	G	A	G37224655A	CPLANE1	NM_023073.3(CPLANE1):c.2377C>T:p.Gln793Ter	coding	Pathogenic
5	37224679	G	A	G37224679A	CPLANE1	NM_023073.3(CPLANE1):c.2353C>T:p.Arg785Ter	coding	Pathogenic
5	37226135	G	A	G37226135A	CPLANE1	NM_023073.3(CPLANE1):c.2291+169C>T	noncoding	Benign
5	37226302	A	G	A37226302G	CPLANE1	NM_023073.3(CPLANE1):c.2291+2T>C	noncoding	Pathogenic
5	37226320	G	A	G37226320A	CPLANE1	NM_023073.3(CPLANE1):c.2275C>T:p.Gln759Ter	coding	Pathogenic
5	37226550	G	C	G37226550C	CPLANE1	NM_023073.3(CPLANE1):c.2045C>G:p.Ser682Ter	coding	Pathogenic
5	37226712	C	T	C37226712T	CPLANE1	NM_023073.3(CPLANE1):c.1883G>A:p.Arg628Lys	coding	Benign/Likely_benign
5	37226786	A	G	A37226786G	CPLANE1	NM_023073.3(CPLANE1):c.1809T>C:p.Thr603=	coding	Benign
5	37226811	A	C	A37226811C	CPLANE1	NM_023073.3(CPLANE1):c.1784T>G:p.Leu595Ter	coding	Pathogenic
5	37226858	C	T	C37226858T	CPLANE1	NM_023073.3(CPLANE1):c.1737G>A:p.Ala579=	coding	Benign
5	37227394	T	C	T37227394C	CPLANE1	NM_023073.3(CPLANE1):c.1372-2A>G	noncoding	Pathogenic
5	37227669	G	A	G37227669A	CPLANE1	NM_023073.3(CPLANE1):c.1270C>T:p.Arg424Ter	coding	Pathogenic
5	37227766	A	C	A37227766C	CPLANE1	NM_023073.3(CPLANE1):c.1173T>G:p.Ala391=	coding	Benign/Likely_benign
5	37227803	G	A	G37227803A	CPLANE1	NM_023073.3(CPLANE1):c.1136C>T:p.Thr379Met	coding	Benign/Likely_benign
5	37227814	T	C	T37227814C	CPLANE1	NM_023073.3(CPLANE1):c.1125A>G:p.Pro375=	coding	Benign
5	37230617	A	G	A37230617G	CPLANE1	NM_023073.3(CPLANE1):c.1121+250T>C	noncoding	Benign
5	37230994	T	C	T37230994C	CPLANE1	NM_023073.3(CPLANE1):c.994A>G:p.Met332Val	coding	Benign/Likely_benign
5	37239782	T	G	T37239782G	CPLANE1	NM_023073.3(CPLANE1):c.765A>C:p.Gly255=	coding	Benign
5	37239838	G	A	G37239838A	CPLANE1	NM_023073.3(CPLANE1):c.709C>T:p.Gln237Ter	coding	Pathogenic
5	37239845	C	T	C37239845T	CPLANE1	NM_023073.3(CPLANE1):c.702G>A:p.Trp234Ter	coding	Pathogenic
5	37243011	A	G	A37243011G	CPLANE1	NM_023073.3(CPLANE1):c.677+2T>C	noncoding	Pathogenic
5	37244567	C	T	C37244567T	CPLANE1	NM_023073.3(CPLANE1):c.378G>A:p.Gly126=	coding	Benign
5	37245569	C	A	C37245569A	CPLANE1	NM_023073.3(CPLANE1):c.247G>T:p.Gly83Ter	coding	Pathogenic
5	37245833	C	T	C37245833T	CPLANE1	NM_023073.3(CPLANE1):c.94G>A:p.Val32Ile	coding	Benign
5	37246024	T	C	T37246024C	CPLANE1	NM_023073.3(CPLANE1):c.82-179A>G	noncoding	Benign
5	37247642	C	T	C37247642T	CPLANE1	NM_023073.3(CPLANE1):c.57G>A:p.Trp19Ter	coding	Pathogenic
5	37298905	G	A	G37298905A	NUP155	NM_153485.3(NUP155):c.3756C>T:p.Gly1252=	coding	Benign
5	37298947	C	T	C37298947T	NUP155	NM_153485.3(NUP155):c.3714G>A:p.Ser1238=	coding	Benign
5	37309274	G	A	G37309274A	NUP155	NM_153485.3(NUP155):c.2629-7C>T	noncoding	Benign
5	37310663	A	G	A37310663G	NUP155	NM_153485.3(NUP155):c.2517T>C:p.Ala839=	coding	Benign
5	37314228	T	C	T37314228C	NUP155	NM_153485.3(NUP155):c.2406A>G:p.Gln802=	coding	Benign
5	37327724	T	G	T37327724G	NUP155	NM_153485.3(NUP155):c.1929A>C:p.Ala643=	coding	Benign
5	37331693	A	G	A37331693G	NUP155	NM_153485.3(NUP155):c.1621T>C:p.Leu541=	coding	Benign
5	37341164	C	T	C37341164T	NUP155	NM_153485.3(NUP155):c.1172G>A:p.Arg391His	coding	Pathogenic
5	37370957	G	A	G37370957A	NUP155	NM_153485.3(NUP155):c.21C>T:p.Gly7=	coding	Benign
5	37479867	A	C	A37479867C	WDR70	NM_018034.4(WDR70):c.720A>C:p.Thr240=	coding	Benign
5	37701062	C	T	C37701062T	WDR70	NM_018034.4(WDR70):c.1197C>T:p.Asp399=	coding	Benign
5	37812768	C	T	C37812768T	GDNF	NM_000514.4(GDNF):c.*2883G>A	noncoding	Benign
5	37812938	C	T	C37812938T	GDNF	NM_000514.4(GDNF):c.*2713G>A	noncoding	Benign
5	37813008	G	A	G37813008A	GDNF	NM_000514.4(GDNF):c.*2643C>T	noncoding	Benign
5	37813447	C	A	C37813447A	GDNF	NM_000514.4(GDNF):c.*2204G>T	noncoding	Benign
5	37813489	C	A	C37813489A	GDNF	NM_000514.4(GDNF):c.*2162G>T	noncoding	Benign
5	37813753	G	T	G37813753T	GDNF	NM_000514.4(GDNF):c.*1898C>A	noncoding	Benign
5	37813866	C	A	C37813866A	GDNF	NM_000514.4(GDNF):c.*1785G>T	noncoding	Benign
5	37814000	T	C	T37814000C	GDNF	NM_000514.4(GDNF):c.*1651A>G	noncoding	Benign
5	37814046	A	G	A37814046G	GDNF	NM_000514.4(GDNF):c.*1605T>C	noncoding	Benign
5	37814110	A	T	A37814110T	GDNF	NM_000514.4(GDNF):c.*1541T>A	noncoding	Benign
5	37814262	T	C	T37814262C	GDNF	NM_000514.4(GDNF):c.*1389A>G	noncoding	Benign
5	37814387	G	A	G37814387A	GDNF	NM_000514.4(GDNF):c.*1264C>T	noncoding	Benign
5	37814452	T	A	T37814452A	GDNF	NM_000514.4(GDNF):c.*1199A>T	noncoding	Benign
5	37814510	G	T	G37814510T	GDNF	NM_000514.4(GDNF):c.*1141C>A	noncoding	Benign
5	37814647	A	G	A37814647G	GDNF	NM_000514.4(GDNF):c.*1004T>C	noncoding	Benign
5	37815122	C	T	C37815122T	GDNF	NM_000514.4(GDNF):c.*529G>A	noncoding	Benign
5	37815201	G	A	G37815201A	GDNF	NM_000514.4(GDNF):c.*450C>T	noncoding	Benign
5	37815288	T	A	T37815288A	GDNF	NM_000514.4(GDNF):c.*363A>T	noncoding	Benign
5	37815747	T	C	T37815747C	GDNF	NM_000514.4(GDNF):c.540A>G:p.Arg180=	coding	Benign
5	37815839	C	T	C37815839T	GDNF	NM_000514.4(GDNF):c.448G>A:p.Asp150Asn	coding	Benign/Likely_benign
5	37815858	C	T	C37815858T	GDNF	NM_000514.4(GDNF):c.429G>A:p.Arg143=	coding	Benign/Likely_benign
5	37839531	T	C	T37839531C	GDNF	NM_000514.4(GDNF):c.-51A>G	noncoding	Benign
5	38458362	C	T	C38458362T	EGFLAM	NM_152403.4(EGFLAM):c.2739C>T:p.Asn913=	coding	Benign
5	38475279	G	A	G38475279A	LIFR	NM_001127671.2(LIFR):c.*6316C>T	noncoding	Benign
5	38475405	G	A	G38475405A	LIFR	NM_001127671.2(LIFR):c.*6190C>T	noncoding	Benign
5	38475455	G	C	G38475455C	LIFR	NM_001127671.2(LIFR):c.*6140C>G	noncoding	Benign
5	38475925	T	C	T38475925C	LIFR	NM_001127671.2(LIFR):c.*5670A>G	noncoding	Benign
5	38475961	A	G	A38475961G	LIFR	NM_001127671.2(LIFR):c.*5634T>C	noncoding	Benign
5	38476239	T	C	T38476239C	LIFR	NM_001127671.2(LIFR):c.*5356A>G	noncoding	Benign
5	38476370	G	A	G38476370A	LIFR	NM_001127671.2(LIFR):c.*5225C>T	noncoding	Benign
5	38476426	A	T	A38476426T	LIFR	NM_001127671.2(LIFR):c.*5169T>A	noncoding	Benign
5	38476741	T	C	T38476741C	LIFR	NM_001127671.2(LIFR):c.*4854A>G	noncoding	Benign
5	38476791	G	A	G38476791A	LIFR	NM_001127671.2(LIFR):c.*4804C>T	noncoding	Benign
5	38477352	T	C	T38477352C	LIFR	NM_001127671.2(LIFR):c.*4243A>G	noncoding	Benign
5	38477539	C	A	C38477539A	LIFR	NM_001127671.2(LIFR):c.*4056G>T	noncoding	Benign
5	38477761	G	C	G38477761C	LIFR	NM_001127671.2(LIFR):c.*3834C>G	noncoding	Benign
5	38478265	G	T	G38478265T	LIFR	NM_001127671.2(LIFR):c.*3330C>A	noncoding	Benign
5	38479725	C	T	C38479725T	LIFR	NM_001127671.2(LIFR):c.*1870G>A	noncoding	Benign
5	38479755	G	C	G38479755C	LIFR	NM_001127671.2(LIFR):c.*1840C>G	noncoding	Benign
5	38479985	A	C	A38479985C	LIFR	NM_001127671.2(LIFR):c.*1610T>G	noncoding	Benign
5	38480041	G	C	G38480041C	LIFR	NM_001127671.2(LIFR):c.*1554C>G	noncoding	Benign
5	38480111	T	C	T38480111C	LIFR	NM_001127671.2(LIFR):c.*1484A>G	noncoding	Benign
5	38480125	A	C	A38480125C	LIFR	NM_001127671.2(LIFR):c.*1470T>G	noncoding	Benign
5	38480136	A	C	A38480136C	LIFR	NM_001127671.2(LIFR):c.*1459T>G	noncoding	Benign
5	38480590	T	C	T38480590C	LIFR	NM_001127671.2(LIFR):c.*1005A>G	noncoding	Benign
5	38480607	C	T	C38480607T	LIFR	NM_001127671.2(LIFR):c.*988G>A	noncoding	Benign
5	38481009	T	A	T38481009A	LIFR	NM_001127671.2(LIFR):c.*586A>T	noncoding	Benign
5	38481049	T	G	T38481049G	LIFR	NM_001127671.2(LIFR):c.*546A>C	noncoding	Benign
5	38481169	C	T	C38481169T	LIFR	NM_001127671.2(LIFR):c.*426G>A	noncoding	Benign
5	38481201	G	T	G38481201T	LIFR	NM_001127671.2(LIFR):c.*394C>A	noncoding	Benign
5	38481233	C	T	C38481233T	LIFR	NM_001127671.2(LIFR):c.*362G>A	noncoding	Benign
5	38481271	C	T	C38481271T	LIFR	NM_001127671.2(LIFR):c.*324G>A	noncoding	Benign
5	38481601	G	A	G38481601A	LIFR	NM_001127671.2(LIFR):c.3288C>T:p.Asn1096=	coding	Benign
5	38482123	A	G	A38482123G	LIFR	NM_001127671.2(LIFR):c.2766T>C:p.Asp922=	coding	Benign
5	38484782	G	A	G38484782A	LIFR	NM_001127671.2(LIFR):c.2584C>T:p.Arg862Ter	coding	Pathogenic
5	38484788	G	A	G38484788A	LIFR	NM_001127671.2(LIFR):c.2578C>T:p.Arg860Trp	coding	Benign
5	38484875	C	T	C38484875T	LIFR	NM_001127671.2(LIFR):c.2498-7G>A	noncoding	Benign/Likely_benign
5	38485869	T	C	T38485869C	LIFR	NM_001127671.2(LIFR):c.2447A>G:p.Asp816Gly	coding	Benign/Likely_benign
5	38485882	G	A	G38485882A	LIFR	NM_001127671.2(LIFR):c.2434C>T:p.Arg812Ter	coding	Pathogenic
5	38485963	C	T	C38485963T	LIFR	NM_001127671.2(LIFR):c.2353G>A:p.Val785Ile	coding	Benign
5	38489243	G	C	G38489243C	LIFR	NM_001127671.2(LIFR):c.2170C>G:p.Pro724Ala	coding	Pathogenic
5	38490283	G	A	G38490283A	LIFR	NM_001127671.2(LIFR):c.2074C>T:p.Arg692Ter	coding	Pathogenic/Likely_pathogenic
5	38490365	A	C	A38490365C	LIFR	NM_001127671.2(LIFR):c.2066-74T>G	noncoding	Benign
5	38493680	G	A	G38493680A	LIFR	NM_001127671.2(LIFR):c.1991C>T:p.Ser664Leu	coding	Benign
5	38493756	T	A	T38493756A	LIFR	NM_001127671.2(LIFR):c.1915A>T:p.Met639Leu	coding	Benign
5	38493772	T	C	T38493772C	LIFR	NM_001127671.2(LIFR):c.1899A>G:p.Ile633Met	coding	Benign
5	38496478	G	A	G38496478A	LIFR	NM_001127671.2(LIFR):c.1789C>T:p.Arg597Ter	coding	Pathogenic
5	38496535	C	T	C38496535T	LIFR	NM_001127671.2(LIFR):c.1732G>A:p.Asp578Asn	coding	Benign
5	38496545	C	T	C38496545T	LIFR	NM_001127671.2(LIFR):c.1722G>A:p.Ser574=	coding	Benign
5	38502687	C	T	C38502687T	LIFR	NM_001127671.2(LIFR):c.1550G>A:p.Trp517Ter	coding	Pathogenic
5	38503978	G	A	G38503978A	LIFR	NM_001127671.2(LIFR):c.1435C>T:p.Gln479Ter	coding	Pathogenic
5	38503996	A	G	A38503996G	LIFR	NM_001127671.2(LIFR):c.1417T>C:p.Ser473Pro	coding	Benign
5	38506582	C	A	C38506582A	LIFR	NM_001127671.2(LIFR):c.1042G>T:p.Glu348Ter	coding	Pathogenic
5	38510384	C	A	C38510384A	LIFR	NM_001127671.2(LIFR):c.991+80G>T	noncoding	Benign
5	38510501	G	A	G38510501A	LIFR	NM_001127671.2(LIFR):c.954C>T:p.Thr318=	coding	Benign/Likely_benign
5	38510666	T	C	T38510666C	LIFR	NM_001127671.2(LIFR):c.789A>G:p.Val263=	coding	Benign
5	38523477	G	C	G38523477C	LIFR	NM_001127671.2(LIFR):c.503C>G:p.Ser168Ter	coding	Pathogenic
5	38523560	C	T	C38523560T	LIFR	NM_001127671.2(LIFR):c.420G>A:p.Glu140=	coding	Benign/Likely_benign
5	38527206	G	A	G38527206A	LIFR	NM_001127671.2(LIFR):c.346C>T:p.His116Tyr	coding	Benign
5	38527278	G	A	G38527278A	LIFR	NM_001127671.2(LIFR):c.274C>T:p.Gln92Ter	coding	Pathogenic
5	38528900	T	C	T38528900C	LIFR	NM_001127671.2(LIFR):c.143-60A>G	noncoding	Benign
5	38594967	T	A	T38594967A	LIFR;LIFR-AS1	NM_002310.6(LIFR):c.-20+294A>T	noncoding	Benign
5	38876259	G	A	G38876259A	OSMR	NM_003999.3(OSMR):c.132G>A:p.Thr44=	coding	Benign
5	38883913	G	A	G38883913A	OSMR	NM_003999.3(OSMR):c.505G>A:p.Val169Ile	coding	Benign
5	38884012	A	T	A38884012T	OSMR	NM_003999.3(OSMR):c.604A>T:p.Ser202Cys	coding	Benign
5	38886102	C	T	C38886102T	OSMR	NM_003999.3(OSMR):c.903C>T:p.Asp301=	coding	Benign
5	38903980	T	C	T38903980C	OSMR	NM_003999.3(OSMR):c.1090T>C:p.Tyr364His	coding	Benign
5	38904380	G	A	G38904380A	OSMR	NM_003999.3(OSMR):c.1162G>A:p.Glu388Lys	coding	Benign
5	38904432	G	A	G38904432A	OSMR	NM_003999.3(OSMR):c.1214G>A:p.Arg405Gln	coding	Benign
5	38923237	G	C	G38923237C	OSMR	NM_003999.3(OSMR):c.1853G>C:p.Gly618Ala	coding	Pathogenic
5	38924432	C	A	C38924432A	OSMR	NM_003999.3(OSMR):c.1881C>A:p.Asp627Glu	coding	Benign
5	38924491	A	T	A38924491T	OSMR	NM_003999.3(OSMR):c.1940A>T:p.Asp647Val	coding	Pathogenic
5	38925231	T	C	T38925231C	OSMR	NM_003999.3(OSMR):c.2072T>C:p.Ile691Thr	coding	Pathogenic
5	38925249	A	C	A38925249C	OSMR	NM_003999.3(OSMR):c.2090A>C:p.Lys697Thr	coding	Pathogenic
5	38925355	G	A	G38925355A	OSMR	NM_003999.3(OSMR):c.2196G>A:p.Thr732=	coding	Benign
5	38933353	C	A	C38933353A	OSMR	NM_003999.3(OSMR):c.2849C>A:p.Ala950Glu	coding	Benign
5	38957718	A	T	A38957718T	RICTOR	NM_152756.5(RICTOR):c.2433T>A:p.Ile811=	coding	Benign
5	38958763	A	G	A38958763G	RICTOR	NM_152756.5(RICTOR):c.2247T>C:p.Asn749=	coding	Benign
5	39201818	G	T	G39201818T	FYB1	NM_001465.6(FYB1):c.1135+8C>A	noncoding	Benign/Likely_benign
5	39201966	T	C	T39201966C	FYB1	NM_001465.6(FYB1):c.995A>G:p.Lys332Arg	coding	Benign
5	39202142	T	G	T39202142G	FYB1	NM_001465.6(FYB1):c.819A>C:p.Pro273=	coding	Benign
5	39202568	C	T	C39202568T	FYB1	NM_001465.6(FYB1):c.393G>A:p.Trp131Ter	coding	Pathogenic
5	39306753	G	C	G39306753C	C9	NM_001737.5(C9):c.1280C>G:p.Ser427Ter	coding	Pathogenic
5	39306754	A	T	A39306754T	C9	NM_001737.5(C9):c.1279T>A:p.Ser427Thr	coding	Benign
5	39311183	G	C	G39311183C	C9	NM_001737.5(C9):c.1065C>G:p.Leu355=	coding	Benign
5	39315809	G	C	G39315809C	C9	NM_001737.5(C9):c.836C>G:p.Thr279Ser	coding	Benign
5	39316021	G	T	G39316021T	C9	NM_001737.5(C9):c.624C>A:p.Gly208=	coding	Benign
5	39331757	A	G	A39331757G	C9	NM_001737.5(C9):c.534T>C:p.Asn178=	coding	Benign
5	39341235	T	G	T39341235G	C9	NM_001737.5(C9):c.387A>C:p.Ser129=	coding	Benign
5	39341243	C	A	C39341243A	C9	NM_001737.5(C9):c.379G>T:p.Asp127Tyr	coding	Benign/Likely_benign
5	39341247	G	T	G39341247T	C9	NM_001737.5(C9):c.375C>A:p.Cys125Ter	coding	Pathogenic
5	39341267	A	C	A39341267C	C9	NM_001737.5(C9):c.355T>G:p.Cys119Gly	coding	Pathogenic
5	39341276	G	A	G39341276A	C9	NM_001737.5(C9):c.346C>T:p.Arg116Ter	coding	Pathogenic
5	39342112	G	T	G39342112T	C9	NM_001737.5(C9):c.162C>A:p.Cys54Ter	coding	Pathogenic/Likely_pathogenic
5	39342206	C	T	C39342206T	C9	NM_001737.5(C9):c.78-10G>A	noncoding	Benign
5	39364452	G	A	G39364452A	C9	NM_001737.5(C9):c.13C>T:p.Arg5Trp	coding	Benign
5	39377028	T	C	T39377028C	DAB2	NM_001343.4(DAB2):c.1759A>G:p.Thr587Ala	coding	Benign
5	39377157	C	T	C39377157T	DAB2	NM_001343.4(DAB2):c.1630G>A:p.Val544Ile	coding	Benign
5	39377273	G	A	G39377273A	DAB2	NM_001343.4(DAB2):c.1514C>T:p.Thr505Ile	coding	Benign
5	39383071	A	G	A39383071G	DAB2	NM_001343.4(DAB2):c.888T>C:p.Arg296=	coding	Benign
5	39383073	G	A	G39383073A	DAB2	NM_001343.4(DAB2):c.886C>T:p.Arg296Cys	coding	Benign
5	39388311	A	G	A39388311G	DAB2	NM_001343.4(DAB2):c.681T>C:p.Ser227=	coding	Benign
5	39388314	A	G	A39388314G	DAB2	NM_001343.4(DAB2):c.678T>C:p.Asn226=	coding	Benign
5	39388861	A	T	A39388861T	DAB2	NM_001343.4(DAB2):c.571-9T>A	noncoding	Benign
5	40691791	G	A	G40691791A	PTGER4	NM_000958.3(PTGER4):c.880G>A:p.Val294Ile	coding	Benign
5	40765115	T	C	T40765115C	PRKAA1	NM_206907.3(PRKAA1):c.990A>G:p.Glu330=	coding	Benign
5	40769460	A	G	A40769460G	PRKAA1	NM_206907.3(PRKAA1):c.597T>C:p.Ser199=	coding	Benign
5	40841660	G	A	G40841660A	CARD6	NM_032587.4(CARD6):c.278G>A:p.Arg93Lys	coding	Benign
5	40843422	G	A	G40843422A	CARD6	NM_032587.4(CARD6):c.554G>A:p.Cys185Tyr	coding	Benign
5	40843448	A	G	A40843448G	CARD6	NM_032587.4(CARD6):c.580A>G:p.Ile194Val	coding	Benign
5	40843659	G	A	G40843659A	CARD6	NM_032587.4(CARD6):c.791G>A:p.Gly264Glu	coding	Benign
5	40934316	T	C	T40934316C	C7	NM_000587.4(C7):c.139-9T>C	noncoding	Benign
5	40936337	G	T	G40936337T	C7	NM_000587.4(C7):c.281-1G>T	noncoding	Pathogenic
5	40955428	G	C	G40955428C	C7	NM_000587.4(C7):c.1135G>C:p.Gly379Arg	coding	Pathogenic
5	40958230	T	A	T40958230A	C7	NM_000587.4(C7):c.1458T>A:p.Cys486Ter	coding	Pathogenic
5	40959520	C	A	C40959520A	C7	NM_000587.4(C7):c.1561C>A:p.Arg521Ser	coding	Pathogenic
5	40979743	T	A	T40979743A	C7	NM_000587.4(C7):c.2184T>A:p.Cys728Ter	coding	Pathogenic
5	40979911	T	C	T40979911C	C7	NM_000587.4(C7):c.2350+2T>C	noncoding	Pathogenic
5	41149346	C	T	C41149346T	C6	NM_000065.4(C6):c.2518G>A:p.Gly840Ser	coding	Benign
5	41149429	G	A	G41149429A	C6	NM_000065.4(C6):c.2435C>T:p.Thr812Ile	coding	Benign
5	41154986	T	C	T41154986C	C6	NM_000065.4(C6):c.2087A>G:p.Asp696Gly	coding	Benign
5	41154987	C	T	C41154987T	C6	NM_000065.4(C6):c.2086G>A:p.Asp696Asn	coding	Benign
5	41160209	A	G	A41160209G	C6	NM_000065.4(C6):c.1617T>C:p.Cys539=	coding	Benign
5	41160271	C	T	C41160271T	C6	NM_000065.4(C6):c.1555G>A:p.Asp519Asn	coding	Benign
5	41172327	T	C	T41172327C	C6	NM_000065.4(C6):c.1189A>G:p.Lys397Glu	coding	Benign
5	41172351	G	A	G41172351A	C6	NM_000065.4(C6):c.1169-4C>T	noncoding	Benign
5	41195837	G	A	G41195837A	C6	NM_000065.4(C6):c.542C>T:p.Thr181Ile	coding	Benign/Likely_benign
5	41199857	G	T	G41199857T	C6	NM_000065.5(C6):c.356C>A:p.Ala119Glu	coding	Benign
5	41203220	C	A	C41203220A	C6	NM_000065.4(C6):c.11G>T:p.Arg4Leu	coding	Benign
5	41203242	C	T	C41203242T	C6	NM_000065.5(C6):c.-12G>A	noncoding	Benign
5	41730285	C	A	C41730285A	OXCT1	NM_000436.4(OXCT1):c.*1444G>T	noncoding	Benign
5	41730295	C	G	C41730295G	OXCT1	NM_000436.4(OXCT1):c.*1434G>C	noncoding	Benign
5	41730794	T	C	T41730794C	OXCT1	NM_000436.4(OXCT1):c.*935A>G	noncoding	Benign
5	41739405	A	G	A41739405G	OXCT1	NM_000436.4(OXCT1):c.1506T>C:p.Thr502=	coding	Benign/Likely_benign
5	41749544	G	A	G41749544A	OXCT1	NM_000436.4(OXCT1):c.1402C>T:p.Arg468Cys	coding	Pathogenic
5	41749579	C	A	C41749579A	OXCT1	NM_000436.4(OXCT1):c.1367G>T:p.Cys456Phe	coding	Pathogenic
5	41793998	C	T	C41793998T	OXCT1	NM_000436.4(OXCT1):c.1248+5G>A	noncoding	Pathogenic
5	41803148	C	T	C41803148T	OXCT1	NM_000436.4(OXCT1):c.971G>A:p.Gly324Glu	coding	Pathogenic
5	41805674	G	C	G41805674C	OXCT1	NM_000436.4(OXCT1):c.848C>G:p.Ser283Ter	coding	Pathogenic
5	41807441	A	G	A41807441G	OXCT1	NM_000436.4(OXCT1):c.733-3T>C	noncoding	Benign/Likely_benign
5	41840487	C	T	C41840487T	OXCT1	NM_000436.4(OXCT1):c.696G>A:p.Leu232=	coding	Benign/Likely_benign
5	41842685	C	T	C41842685T	OXCT1	NM_000436.4(OXCT1):c.661G>A:p.Val221Met	coding	Pathogenic
5	41842686	G	A	G41842686A	OXCT1	NM_000436.4(OXCT1):c.660C>T:p.Asn220=	coding	Benign
5	41842690	C	T	C41842690T	OXCT1	NM_000436.4(OXCT1):c.656G>A:p.Gly219Glu	coding	Pathogenic
5	41842696	C	A	C41842696A	OXCT1	NM_000436.4(OXCT1):c.650G>T:p.Arg217Leu	coding	Benign/Likely_benign
5	41850114	C	A	C41850114A	OXCT1	NM_000436.4(OXCT1):c.480G>T:p.Gly160=	coding	Benign
5	41850114	C	T	C41850114T	OXCT1	NM_000436.4(OXCT1):c.480G>A:p.Gly160=	coding	Benign/Likely_benign
5	41853412	T	G	T41853412G	OXCT1	NM_000436.4(OXCT1):c.414+7A>C	noncoding	Benign
5	41853561	G	A	G41853561A	OXCT1	NM_000436.4(OXCT1):c.279-7C>T	noncoding	Benign
5	41862656	G	A	G41862656A	OXCT1	NM_000436.4(OXCT1):c.173C>T:p.Thr58Met	coding	Benign
5	41870418	G	C	G41870418C	OXCT1	NM_000436.4(OXCT1):c.-60C>G	noncoding	Benign
5	41870550	C	T	C41870550T	OXCT1	NM_000436.3(OXCT1):c.-192G>A	noncoding	Benign
5	41870573	T	C	T41870573C	OXCT1	NM_000436.3(OXCT1):c.-215A>G	noncoding	Benign
5	42423803	A	G	A42423803G	GHR	NM_000163.5(GHR):c.-164A>G	noncoding	Benign
5	42423928	G	C	G42423928C	GHR	NM_000163.5(GHR):c.-39G>C	noncoding	Benign
5	42629069	G	A	G42629069A	GHR	NM_000163.5(GHR):c.102G>A:p.Trp34Ter	coding	Pathogenic
5	42688855	G	C	G42688855C	GHR	NM_000163.5(GHR):c.137-35G>C	noncoding	Benign
5	42688921	C	A	C42688921A	GHR	NM_000163.5(GHR):c.168C>A:p.Cys56Ter	coding	Pathogenic
5	42688934	C	T	C42688934T	GHR	NM_000163.5(GHR):c.181C>T:p.Arg61Ter	coding	Pathogenic
5	42688937	G	A	G42688937A	GHR	NM_000163.5(GHR):c.184G>A:p.Glu62Lys	coding	Pathogenic
5	42694915	A	G	A42694915G	GHR	NM_000163.5(GHR):c.267-2A>G	noncoding	Pathogenic
5	42694953	C	A	C42694953A	GHR	NM_000163.5(GHR):c.303C>A:p.Cys101Ter	coding	Pathogenic
5	42694985	G	C	G42694985C	GHR	NM_000163.5(GHR):c.335G>C:p.Cys112Ser	coding	Pathogenic
5	42694991	T	C	T42694991C	GHR	NM_000163.5(GHR):c.341T>C:p.Phe114Ser	coding	Pathogenic
5	42695014	T	C	T42695014C	GHR	NM_000163.5(GHR):c.364T>C:p.Trp122Arg	coding	Pathogenic
5	42695098	C	T	C42695098T	GHR	NM_000163.5(GHR):c.439+9C>T	noncoding	Benign
5	42699830	C	A	C42699830A	GHR	NM_000163.5(GHR):c.446C>A:p.Pro149Gln	coding	Pathogenic
5	42699888	T	G	T42699888G	GHR	NM_000163.5(GHR):c.504T>G:p.His168Gln	coding	Pathogenic
5	42699892	G	C	G42699892C	GHR	NM_000163.5(GHR):c.508G>C:p.Asp170His	coding	Pathogenic
5	42699896	T	C	T42699896C	GHR	NM_000163.5(GHR):c.512T>C:p.Ile171Thr	coding	Pathogenic
5	42699899	A	C	A42699899C	GHR	NM_000163.5(GHR):c.515A>C:p.Gln172Pro	coding	Pathogenic
5	42699902	T	G	T42699902G	GHR	NM_000163.5(GHR):c.518T>G:p.Val173Gly	coding	Pathogenic
5	42699942	A	G	A42699942G	GHR	NM_000163.5(GHR):c.558A>G:p.Gly186=	coding	Benign
5	42699943	T	C	T42699943C	GHR	NM_000163.5(GHR):c.559T>C:p.Trp187Arg	coding	Pathogenic
5	42699978	A	G	A42699978G	GHR	NM_000163.5(GHR):c.594A>G:p.Glu198=	coding	Pathogenic
5	42711178	C	T	C42711178T	GHR	NM_000163.5(GHR):c.619-29C>T	noncoding	Benign
5	42711206	G	T	G42711206T	GHR	NM_000163.5(GHR):c.619-1G>T	noncoding	Pathogenic
5	42711291	C	T	C42711291T	GHR	NM_000163.5(GHR):c.703C>T:p.Arg235Ter	coding	Pathogenic
5	42711312	G	T	G42711312T	GHR	NM_000163.5(GHR):c.724G>T:p.Glu242Ter	coding	Pathogenic
5	42711314	G	C	G42711314C	GHR	NM_000163.5(GHR):c.726G>C:p.Glu242Asp	coding	Pathogenic
5	42713407	G	A	G42713407A	GHR	NM_000163.5(GHR):c.785-22G>A	noncoding	Benign
5	42713420	G	A	G42713420A	GHR	NM_000163.5(GHR):c.785-9G>A	noncoding	Benign
5	42713519	G	C	G42713519C	GHR	NM_000163.5(GHR):c.875G>C:p.Arg292Thr	coding	Pathogenic
5	42718051	G	C	G42718051C	GHR	NM_000163.5(GHR):c.876-1G>C	noncoding	Pathogenic
5	42718121	G	A	G42718121A	GHR	NM_000163.5(GHR):c.945G>A:p.Lys315=	coding	Pathogenic
5	42718122	G	A	G42718122A	GHR	NM_000163.5(GHR):c.945+1G>A	coding	Pathogenic
5	42718605	A	G	A42718605G	GHR	NM_000163.5(GHR):c.1098A>G:p.Leu366=	coding	Benign
5	42718826	G	T	G42718826T	GHR	NM_000163.5(GHR):c.1319G>T:p.Cys440Phe	coding	Benign
5	42718980	C	T	C42718980T	GHR	NM_000163.5(GHR):c.1473C>T:p.Ser491=	coding	Benign
5	42718990	C	A	C42718990A	GHR	NM_000163.5(GHR):c.1483C>A:p.Pro495Thr	coding	Benign/Likely_benign
5	42719137	A	C	A42719137C	GHR	NM_000163.5(GHR):c.1630A>C:p.Ile544Leu	coding	Benign
5	42719242	C	A	C42719242A	GHR	NM_000163.5(GHR):c.1735C>A:p.Pro579Thr	coding	Benign
5	42719259	T	C	T42719259C	GHR	NM_000163.5(GHR):c.1752T>C:p.His584=	coding	Benign
5	42719724	G	A	G42719724A	GHR	NM_000163.5(GHR):c.*300G>A	noncoding	Benign
5	42720116	C	A	C42720116A	GHR	NM_000163.5(GHR):c.*692C>A	noncoding	Benign
5	42720117	G	A	G42720117A	GHR	NM_000163.5(GHR):c.*693G>A	noncoding	Benign
5	42720205	T	A	T42720205A	GHR	NM_000163.5(GHR):c.*781T>A	noncoding	Benign
5	42720978	G	A	G42720978A	GHR	NM_000163.5(GHR):c.*1554G>A	noncoding	Benign
5	42721194	G	C	G42721194C	GHR	NM_000163.5(GHR):c.*1770G>C	noncoding	Benign
5	42721214	G	A	G42721214A	GHR	NM_000163.5(GHR):c.*1790G>A	noncoding	Benign
5	42721358	T	C	T42721358C	GHR	NM_000163.5(GHR):c.*1934T>C	noncoding	Benign
5	42721718	A	G	A42721718G	GHR	NM_000163.5(GHR):c.*2294A>G	noncoding	Benign
5	42801176	T	C	T42801176C	SELENOP	NM_005410.4(SELENOP):c.690A>G:p.Gly230=	coding	Benign
5	42806886	A	G	A42806886G	SELENOP	NM_005410.4(SELENOP):c.416+10T>C	noncoding	Benign
5	43175074	G	A	G43175074A	ZNF131	NM_001297548.2(ZNF131):c.1813G>A:p.Asp605Asn	coding	Benign
5	43175092	G	C	G43175092C	ZNF131	NM_001297548.2(ZNF131):c.1831G>C:p.Ala611Pro	coding	Benign
5	43609275	G	A	G43609275A	NNT	NM_182977.3(NNT):c.80G>A:p.Arg27His	coding	Benign
5	43612967	C	T	C43612967T	NNT	NM_182977.3(NNT):c.211C>T:p.Arg71Ter	coding	Pathogenic
5	43615851	C	T	C43615851T	NNT	NM_182977.3(NNT):c.385C>T:p.Arg129Ter	coding	Pathogenic
5	43619076	T	C	T43619076C	NNT	NM_182977.3(NNT):c.644T>C:p.Phe215Ser	coding	Pathogenic
5	43644342	T	C	T43644342C	NNT	NM_182977.3(NNT):c.1098+17T>C	noncoding	Benign
5	43644675	A	C	A43644675C	NNT	NM_182977.3(NNT):c.1163A>C:p.Tyr388Ser	coding	Pathogenic
5	43649300	C	T	C43649300T	NNT	NM_182977.3(NNT):c.1598C>T:p.Ala533Val	coding	Pathogenic
5	43655972	C	T	C43655972T	NNT	NM_182977.3(NNT):c.2192C>T:p.Thr731Met	coding	Benign
5	43656644	T	G	T43656644G	NNT	NM_182977.3(NNT):c.2294-9T>G	noncoding	Benign
5	43656676	C	T	C43656676T	NNT	NM_182977.3(NNT):c.2317C>T:p.Leu773=	coding	Benign
5	43677813	G	T	G43677813T	NNT	NM_182977.3(NNT):c.2876+7G>T	noncoding	Benign
5	43700140	A	G	A43700140G	NNT	NM_182977.3(NNT):c.2898A>G:p.Ala966=	coding	Benign
5	43700144	C	A	C43700144A	NNT	NM_182977.3(NNT):c.2902C>A:p.Arg968=	coding	Benign
5	43700172	T	C	T43700172C	NNT	NM_182977.3(NNT):c.2930T>C:p.Leu977Pro	coding	Pathogenic
5	43700219	A	G	A43700219G	NNT	NM_182977.3(NNT):c.2977A>G:p.Ile993Val	coding	Benign
5	43702647	G	C	G43702647C	NNT	NM_182977.3(NNT):c.3022G>C:p.Ala1008Pro	coding	Pathogenic
5	43702652	T	G	T43702652G	NNT	NM_182977.3(NNT):c.3027T>G:p.Asn1009Lys	coding	Pathogenic
5	44305002	T	G	T44305002G	FGF10	NM_004465.2(FGF10):c.620A>C:p.His207Pro	coding	Benign/Likely_benign
5	44305012	T	C	T44305012C	FGF10	NM_004465.2(FGF10):c.610A>G:p.Met204Val	coding	Benign
5	44305031	G	A	G44305031A	FGF10	NM_004465.2(FGF10):c.591C>T:p.Thr197=	coding	Benign
5	44305045	G	A	G44305045A	FGF10	NM_004465.2(FGF10):c.577C>T:p.Arg193Ter	coding	Pathogenic
5	44305155	A	C	A44305155C	FGF10	NM_004465.2(FGF10):c.467T>G:p.Ile156Arg	coding	Pathogenic
5	44305207	C	G	C44305207G	FGF10	NM_004465.2(FGF10):c.430-15G>C	noncoding	Benign
5	44310443	C	T	C44310443T	FGF10	NM_004465.2(FGF10):c.413G>A:p.Gly138Glu	coding	Pathogenic
5	44310447	T	A	T44310447A	FGF10	NM_004465.2(FGF10):c.409A>T:p.Lys137Ter	coding	Pathogenic
5	44388366	C	A	C44388366A	FGF10	NM_004465.2(FGF10):c.317G>T:p.Cys106Phe	coding	Pathogenic
5	44388422	C	T	C44388422T	FGF10	NM_004465.2(FGF10):c.261G>A:p.Lys87=	coding	Benign
5	44388443	T	G	T44388443G	FGF10	NM_004465.2(FGF10):c.240A>C:p.Arg80Ser	coding	Pathogenic
5	44388586	C	T	C44388586T	FGF10	NM_004465.2(FGF10):c.97G>A:p.Val33Ile	coding	Benign/Likely_benign
5	45262363	G	A	G45262363A	HCN1	NM_021072.4(HCN1):c.2231C>T:p.Pro744Leu	coding	Benign
5	45262367	G	C	G45262367C	HCN1	NM_021072.4(HCN1):c.2227C>G:p.Pro743Ala	coding	Benign/Likely_benign
5	45262422	G	A	G45262422A	HCN1	NM_021072.4(HCN1):c.2172C>T:p.Ala724=	coding	Benign/Likely_benign
5	45262797	T	C	T45262797C	HCN1	NM_021072.4(HCN1):c.1797A>G:p.Ser599=	coding	Benign/Likely_benign
5	45267085	G	A	G45267085A	HCN1	NM_021072.4(HCN1):c.1783+4C>T	noncoding	Benign/Likely_benign
5	45267103	C	T	C45267103T	HCN1	NM_021072.4(HCN1):c.1769G>A:p.Arg590Gln	coding	Pathogenic
5	45267162	G	A	G45267162A	HCN1	NM_021072.4(HCN1):c.1710C>T:p.Asn570=	coding	Benign/Likely_benign
5	45267246	G	A	G45267246A	HCN1	NM_021072.4(HCN1):c.1626C>T:p.Cys542=	coding	Benign/Likely_benign
5	45303655	C	A	C45303655A	HCN1	NM_021072.4(HCN1):c.1562G>T:p.Gly521Val	coding	Pathogenic
5	45303780	C	T	C45303780T	HCN1	NM_021072.4(HCN1):c.1437G>A:p.Ala479=	coding	Benign
5	45353237	C	T	C45353237T	HCN1	NM_021072.4(HCN1):c.1240G>A:p.Val414Met	coding	Pathogenic
5	45396551	C	T	C45396551T	HCN1	NM_021072.4(HCN1):c.1171G>A:p.Gly391Ser	coding	Pathogenic
5	45396681	G	A	G45396681A	HCN1	NM_021072.4(HCN1):c.1041C>T:p.Tyr347=	coding	Benign/Likely_benign
5	45461871	C	G	C45461871G	HCN1	NM_021072.4(HCN1):c.986G>C:p.Cys329Ser	coding	Pathogenic
5	45461967	C	G	C45461967G	HCN1	NM_021072.4(HCN1):c.890G>C:p.Arg297Thr	coding	Pathogenic
5	45645199	G	A	G45645199A	HCN1	NM_021072.4(HCN1):c.835C>T:p.His279Tyr	coding	Pathogenic
5	45645206	T	C	T45645206C	HCN1	NM_021072.4(HCN1):c.828A>G:p.Arg276=	coding	Benign
5	45645220	A	G	A45645220G	HCN1	NM_021072.4(HCN1):c.814T>C:p.Ser272Pro	coding	Pathogenic
5	45645306	A	C	A45645306C	HCN1	NM_021072.4(HCN1):c.728T>G:p.Met243Arg	coding	Pathogenic
5	45645565	G	C	G45645565C	HCN1	NM_021072.4(HCN1):c.469C>G:p.Leu157Val	coding	Pathogenic
5	45695795	G	A	G45695795A	HCN1	NM_021072.4(HCN1):c.299C>T:p.Ser100Phe	coding	Pathogenic
5	45695833	G	C	G45695833C	HCN1	NM_021072.4(HCN1):c.261C>G:p.Pro87=	coding	Benign
5	45695842	G	A	G45695842A	HCN1	NM_021072.4(HCN1):c.252C>T:p.Ala84=	coding	Benign
5	45695935	G	C	G45695935C	HCN1	NM_021072.4(HCN1):c.159C>G:p.His53Gln	coding	Benign/Likely_benign
5	45695954	C	A	C45695954A	HCN1	NM_021072.4(HCN1):c.140G>T:p.Gly47Val	coding	Benign/Likely_benign
5	45696010	C	T	C45696010T	HCN1	NM_021072.4(HCN1):c.84G>A:p.Thr28=	coding	Benign
5	45696026	G	A	G45696026A	HCN1	NM_021072.4(HCN1):c.68C>T:p.Ala23Val	coding	Benign
5	51389680	G	A	G51389680A	ISL1	NM_002202.3(ISL1):c.513G>A:p.Arg171=	coding	Benign
5	51389734	C	T	C51389734T	ISL1	NM_002202.3(ISL1):c.567C>T:p.Asn189=	coding	Benign
5	51391393	C	T	C51391393T	ISL1	NM_002202.3(ISL1):c.885C>T:p.Ser295=	coding	Benign
5	52861513	A	G	A52861513G	ITGA1	NM_181501.2(ITGA1):c.249A>G:p.Pro83=	coding	Benign
5	52865058	G	A	G52865058A	ITGA1	NM_181501.2(ITGA1):c.472G>A:p.Val158Met	coding	Benign
5	52881911	G	A	G52881911A	ITGA1	NM_181501.2(ITGA1):c.663G>A:p.Glu221=	coding	Benign
5	52905915	T	C	T52905915C	ITGA1	NM_181501.2(ITGA1):c.1455+7T>C	noncoding	Benign
5	52920387	C	T	C52920387T	ITGA1	NM_181501.2(ITGA1):c.2211C>T:p.Phe737=	coding	Benign
5	52944945	A	G	A52944945G	ITGA1	NM_181501.2(ITGA1):c.3288A>G:p.Ser1096=	coding	Benign
5	52945020	C	A	C52945020A	ITGA1	NM_181501.2(ITGA1):c.3363C>A:p.Ser1121Arg	coding	Benign
5	52989345	G	A	G52989345A	ITGA2	NM_002203.3(ITGA2):c.-124G>A	noncoding	Benign
5	52989456	G	A	G52989456A	ITGA2	NM_002203.4(ITGA2):c.-13G>A	noncoding	Benign
5	52989479	A	G	A52989479G	ITGA2	NM_002203.4(ITGA2):c.11A>G:p.Glu4Gly	coding	Benign
5	53026806	C	T	C53026806T	ITGA2	NM_002203.4(ITGA2):c.123C>T:p.Ser41=	coding	Benign
5	53042153	G	A	G53042153A	ITGA2	NM_002203.4(ITGA2):c.227G>A:p.Arg76Gln	coding	Benign/Likely_benign
5	53042194	G	A	G53042194A	ITGA2	NM_002203.4(ITGA2):c.268G>A:p.Ala90Thr	coding	Benign
5	53045032	G	A	G53045032A	ITGA2	NM_002203.4(ITGA2):c.327G>A:p.Met109Ile	coding	Benign
5	53048657	A	G	A53048657G	ITGA2	NM_002203.4(ITGA2):c.517A>G:p.Ile173Val	coding	Benign
5	53048780	A	G	A53048780G	ITGA2	NM_002203.4(ITGA2):c.630+10A>G	noncoding	Benign
5	53051413	G	A	G53051413A	ITGA2	NM_002203.4(ITGA2):c.633G>A:p.Val211=	coding	Benign
5	53051416	G	T	G53051416T	ITGA2	NM_002203.4(ITGA2):c.636G>T:p.Gly212=	coding	Benign
5	53051536	A	C	A53051536C	ITGA2	NM_002203.4(ITGA2):c.756A>C:p.Thr252=	coding	Benign
5	53051539	C	T	C53051539T	ITGA2	NM_002203.4(ITGA2):c.759C>T:p.Phe253=	coding	Benign
5	53055547	T	C	T53055547C	ITGA2	NM_002203.4(ITGA2):c.789T>C:p.Ala263=	coding	Benign
5	53055583	G	A	G53055583A	ITGA2	NM_002203.4(ITGA2):c.825G>A:p.Thr275=	coding	Benign
5	53055607	C	T	C53055607T	ITGA2	NM_002203.4(ITGA2):c.849C>T:p.Asp283=	coding	Benign
5	53055629	A	T	A53055629T	ITGA2	NM_002203.4(ITGA2):c.871A>T:p.Met291Leu	coding	Benign
5	53056008	G	A	G53056008A	ITGA2	NM_002203.4(ITGA2):c.955G>A:p.Ala319Thr	coding	Benign
5	53056046	A	G	A53056046G	ITGA2	NM_002203.4(ITGA2):c.993A>G:p.Ala331=	coding	Benign
5	53056049	C	T	C53056049T	ITGA2	NM_002203.4(ITGA2):c.996C>T:p.Ile332=	coding	Benign
5	53058069	G	A	G53058069A	ITGA2	NM_002203.4(ITGA2):c.1141G>A:p.Val381Met	coding	Benign
5	53060024	T	C	T53060024C	ITGA2	NM_002203.4(ITGA2):c.1312+12T>C	noncoding	Benign
5	53060960	C	T	C53060960T	ITGA2	NM_002203.4(ITGA2):c.1372C>T:p.Arg458Trp	coding	Benign
5	53062921	A	C	A53062921C	ITGA2	NM_002203.4(ITGA2):c.1594A>C:p.Ile532Leu	coding	Benign/Likely_benign
5	53062927	G	A	G53062927A	ITGA2	NM_002203.4(ITGA2):c.1600G>A:p.Glu534Lys	coding	Benign
5	53062932	A	G	A53062932G	ITGA2	NM_002203.4(ITGA2):c.1602+3A>G	noncoding	Benign
5	53064947	C	T	C53064947T	ITGA2	NM_002203.4(ITGA2):c.1638C>T:p.Pro546=	coding	Benign
5	53065835	T	C	T53065835C	ITGA2	NM_002203.4(ITGA2):c.1807-6T>C	coding	Benign
5	53070124	T	C	T53070124C	ITGA2	NM_002203.4(ITGA2):c.2099T>C:p.Ile700Thr	coding	Benign
5	53071876	T	C	T53071876C	ITGA2	NM_002203.4(ITGA2):c.2236-62T>C	noncoding	Benign
5	53072642	C	T	C53072642T	ITGA2	NM_002203.4(ITGA2):c.2376C>T:p.Asp792=	coding	Benign
5	53072643	G	A	G53072643A	ITGA2	NM_002203.4(ITGA2):c.2377G>A:p.Gly793Arg	coding	Benign
5	53072695	A	G	A53072695G	ITGA2	NM_002203.4(ITGA2):c.2429A>G:p.Gln810Arg	coding	Benign
5	53073171	C	T	C53073171T	ITGA2	NM_002203.4(ITGA2):c.2483C>T:p.Thr828Met	coding	Benign
5	53073172	G	A	G53073172A	ITGA2	NM_002203.4(ITGA2):c.2484G>A:p.Thr828=	coding	Benign
5	53073256	G	A	G53073256A	ITGA2	NM_002203.4(ITGA2):c.2568G>A:p.Leu856=	coding	Benign
5	53075070	A	C	A53075070C	ITGA2	NM_002203.4(ITGA2):c.2674A>C:p.Thr892Pro	coding	Benign
5	53075074	T	C	T53075074C	ITGA2	NM_002203.4(ITGA2):c.2678T>C:p.Ile893Thr	coding	Benign
5	53075114	G	A	G53075114A	ITGA2	NM_002203.4(ITGA2):c.2718G>A:p.Ala906=	coding	Benign
5	53075217	A	G	A53075217G	ITGA2	NM_002203.4(ITGA2):c.2742-4A>G	noncoding	Benign
5	53075259	A	G	A53075259G	ITGA2	NM_002203.4(ITGA2):c.2780A>G:p.Asn927Ser	coding	Benign/Likely_benign
5	53080585	C	A	C53080585A	ITGA2	NM_002203.4(ITGA2):c.3003C>A:p.Asn1001Lys	coding	Benign
5	53080603	T	G	T53080603G	ITGA2	NM_002203.4(ITGA2):c.3021T>G:p.Thr1007=	coding	Benign
5	53080616	G	A	G53080616A	ITGA2	NM_002203.4(ITGA2):c.3034G>A:p.Asp1012Asn	coding	Benign
5	53083349	A	T	A53083349T	ITGA2	NM_002203.4(ITGA2):c.3154A>T:p.Thr1052Ser	coding	Benign/Likely_benign
5	53083447	C	T	C53083447T	ITGA2	NM_002203.4(ITGA2):c.3252C>T:p.Phe1084=	coding	Benign
5	53087017	T	C	T53087017C	ITGA2	NM_002203.4(ITGA2):c.3324T>C:p.Tyr1108=	coding	Benign
5	53089976	A	C	A53089976C	ITGA2	NM_002203.4(ITGA2):c.3379A>C:p.Lys1127Gln	coding	Benign
5	53090571	T	C	T53090571C	ITGA2	NM_002203.4(ITGA2):c.3518T>C:p.Ile1173Thr	coding	Benign
5	53090628	G	A	G53090628A	ITGA2	NM_002203.4(ITGA2):c.*29G>A	noncoding	Benign
5	53090634	A	C	A53090634C	ITGA2	NM_002203.4(ITGA2):c.*35A>C	noncoding	Benign
5	53090807	G	A	G53090807A	ITGA2	NM_002203.4(ITGA2):c.*208G>A	noncoding	Benign
5	53091061	A	C	A53091061C	ITGA2	NM_002203.4(ITGA2):c.*462A>C	noncoding	Benign
5	53091281	A	G	A53091281G	ITGA2	NM_002203.4(ITGA2):c.*682A>G	noncoding	Benign
5	53091306	G	C	G53091306C	ITGA2	NM_002203.4(ITGA2):c.*707G>C	noncoding	Benign
5	53091320	A	C	A53091320C	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*721A>C	noncoding	Benign
5	53091493	C	T	C53091493T	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*894C>T	noncoding	Benign
5	53091851	G	A	G53091851A	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*1252G>A	noncoding	Benign/Likely_benign
5	53092234	A	G	A53092234G	ITGA2	NM_002203.4(ITGA2):c.*1635A>G	noncoding	Benign
5	53092348	T	C	T53092348C	ITGA2	NM_002203.4(ITGA2):c.*1749T>C	noncoding	Benign
5	53092424	T	C	T53092424C	ITGA2	NM_002203.4(ITGA2):c.*1825T>C	noncoding	Benign
5	53092514	G	A	G53092514A	ITGA2	NM_002203.4(ITGA2):c.*1915G>A	noncoding	Benign
5	53092663	C	T	C53092663T	ITGA2	NM_002203.4(ITGA2):c.*2064C>T	noncoding	Benign
5	53092674	A	G	A53092674G	ITGA2	NM_002203.4(ITGA2):c.*2075A>G	noncoding	Benign
5	53093120	A	C	A53093120C	ITGA2	NM_002203.4(ITGA2):c.*2521A>C	noncoding	Benign
5	53093169	C	T	C53093169T	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2570C>T	noncoding	Benign/Likely_benign
5	53093173	C	G	C53093173G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2574C>G	noncoding	Benign/Likely_benign
5	53093315	C	G	C53093315G	ITGA2	NM_002203.4(ITGA2):c.*2716C>G	noncoding	Benign
5	53093322	G	C	G53093322C	ITGA2	NM_002203.4(ITGA2):c.*2723G>C	noncoding	Benign
5	53093538	C	T	C53093538T	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2939C>T	noncoding	Benign/Likely_benign
5	53093539	G	A	G53093539A	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2940G>A	noncoding	Benign
5	53093598	A	G	A53093598G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2999A>G	noncoding	Benign
5	53093625	A	G	A53093625G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3026A>G	noncoding	Benign
5	53093647	G	A	G53093647A	ITGA2	NM_002203.4(ITGA2):c.*3048G>A	noncoding	Benign
5	53093763	G	A	G53093763A	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3164G>A	noncoding	Benign/Likely_benign
5	53093909	T	G	T53093909G	ITGA2	NM_002203.4(ITGA2):c.*3310T>G	noncoding	Benign
5	53093997	T	G	T53093997G	ITGA2	NM_002203.4(ITGA2):c.*3398T>G	noncoding	Benign
5	53094488	A	G	A53094488G	ITGA2	NM_002203.4(ITGA2):c.*3889A>G	noncoding	Benign
5	53094517	G	C	G53094517C	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3918G>C	noncoding	Benign/Likely_benign
5	53094585	A	C	A53094585C	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3986A>C	noncoding	Benign
5	53094641	G	A	G53094641A	ITGA2	NM_002203.4(ITGA2):c.*4042G>A	noncoding	Benign
5	53094697	C	G	C53094697G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*4098C>G	noncoding	Benign/Likely_benign
5	53095951	C	A	C53095951A	MOCS2	NM_004531.5(MOCS2):c.*2651G>T	noncoding	Benign
5	53096020	T	G	T53096020G	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*2582A>C	noncoding	Benign
5	53096187	G	A	G53096187A	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*2415C>T	noncoding	Benign
5	53096444	G	A	G53096444A	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*2158C>T	noncoding	Benign
5	53096570	C	T	C53096570T	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*2032G>A	noncoding	Benign
5	53096689	C	T	C53096689T	MOCS2;ITGA2	NM_004531.5(MOCS2):c.*1913G>A	noncoding	Benign/Likely_benign
5	53096730	G	A	G53096730A	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*1872C>T	noncoding	Benign
5	53096929	A	G	A53096929G	MOCS2	NM_004531.5(MOCS2):c.*1673T>C	noncoding	Benign
5	53097058	G	T	G53097058T	MOCS2	NM_004531.5(MOCS2):c.*1544C>A	noncoding	Benign
5	53097591	C	T	C53097591T	MOCS2	NM_004531.5(MOCS2):c.*1011G>A	noncoding	Benign
5	53097867	C	T	C53097867T	MOCS2	NM_004531.5(MOCS2):c.*735G>A	noncoding	Benign
5	53098036	G	A	G53098036A	MOCS2	NM_004531.5(MOCS2):c.*566C>T	noncoding	Benign
5	53098602	T	G	T53098602G	MOCS2	NM_004531.5(MOCS2):c.567A>C:p.Ter189Tyr	coding	Pathogenic
5	53098667	C	T	C53098667T	MOCS2	NM_004531.5(MOCS2):c.502G>A:p.Glu168Lys	coding	Pathogenic
5	53101507	T	C	T53101507C	MOCS2	NM_004531.5(MOCS2):c.229A>G:p.Thr77Ala	coding	Benign
5	53107172	C	T	C53107172T	MOCS2	NM_004531.5(MOCS2):c.3G>A:p.Met1Ile	coding	Pathogenic
5	53107173	A	C	A53107173C	MOCS2	NM_004531.5(MOCS2):c.2T>G:p.Met1Arg	coding	Pathogenic
5	53108643	C	A	C53108643A	MOCS2	NM_004531.5(MOCS2):c.-169G>T	coding	Pathogenic
5	53109714	G	A	G53109714A	MOCS2	NM_004531.5(MOCS2):c.-633C>T	coding	Pathogenic
5	53480843	C	T	C53480843T	FST	NM_013409.3(FST):c.52C>T:p.Leu18Phe	coding	Benign
5	53480885	G	C	G53480885C	FST	NM_013409.3(FST):c.85+9G>C	noncoding	Benign
5	53483680	G	C	G53483680C	FST	NM_013409.3(FST):c.454G>C:p.Glu152Gln	coding	Benign
5	53484153	G	A	G53484153A	FST	NM_013409.3(FST):c.581G>A:p.Arg194Gln	coding	Benign
5	53560674	G	C	G53560674C	NDUFS4	NM_002495.4(NDUFS4):c.12G>C:p.Val4=	coding	Benign
5	53560706	G	A	G53560706A	NDUFS4	NM_002495.4(NDUFS4):c.44G>A:p.Trp15Ter	coding	Pathogenic
5	53560967	G	T	G53560967T	NDUFS4	NM_002495.4(NDUFS4):c.98+207G>T	noncoding	Benign
5	53603451	G	A	G53603451A	NDUFS4	NM_002495.4(NDUFS4):c.99-1G>A	noncoding	Pathogenic
5	53646005	G	A	G53646005A	NDUFS4	NM_002495.4(NDUFS4):c.178-228G>A	noncoding	Benign
5	53646075	A	G	A53646075G	NDUFS4	NM_002495.4(NDUFS4):c.178-158A>G	noncoding	Benign
5	53646231	A	G	A53646231G	NDUFS4	NM_002495.4(NDUFS4):c.178-2A>G	noncoding	Pathogenic
5	53646253	A	C	A53646253C	NDUFS4	NM_002495.4(NDUFS4):c.198A>C:p.Gly66=	coding	Benign
5	53646367	A	G	A53646367G	NDUFS4	NM_002495.4(NDUFS4):c.312A>G:p.Arg104=	coding	Benign
5	53646371	C	T	C53646371T	NDUFS4	NM_002495.4(NDUFS4):c.316C>T:p.Arg106Ter	coding	Pathogenic
5	53646633	C	T	C53646633T	NDUFS4	NM_002495.4(NDUFS4):c.350+228C>T	noncoding	Benign
5	53658576	C	T	C53658576T	NDUFS4	NM_002495.4(NDUFS4):c.376C>T:p.Leu126=	coding	Benign
5	53658684	T	G	T53658684G	NDUFS4	NM_002495.4(NDUFS4):c.424+60T>G	noncoding	Benign
5	53682892	C	T	C53682892T	NDUFS4	NM_002495.4(NDUFS4):c.425-226C>T	noncoding	Benign
5	53682944	G	A	G53682944A	NDUFS4	NM_002495.4(NDUFS4):c.425-174G>A	noncoding	Benign
5	53683267	G	A	G53683267A	NDUFS4	NM_002495.4(NDUFS4):c.*46G>A	noncoding	Benign
5	54455988	G	A	G54455988A	HSPB3	NM_006308.3(HSPB3):c.199G>A:p.Gly67Ser	coding	Benign
5	54456071	G	A	G54456071A	HSPB3	NM_006308.3(HSPB3):c.282G>A:p.Leu94=	coding	Benign
5	54456136	G	A	G54456136A	HSPB3	NM_006308.3(HSPB3):c.347G>A:p.Arg116Gln	coding	Benign/Likely_benign
5	54456144	A	G	A54456144G	HSPB3	NM_006308.3(HSPB3):c.355A>G:p.Lys119Glu	coding	Benign
5	54456158	T	C	T54456158C	HSPB3	NM_006308.3(HSPB3):c.369T>C:p.Gly123=	coding	Benign
5	54518447	G	C	G54518447C	SNX18	NM_001102575.2(SNX18):c.495G>C:p.Ala165=	coding	Benign
5	54518831	G	A	G54518831A	SNX18	NM_001102575.2(SNX18):c.879G>A:p.Lys293=	coding	Benign
5	54519361	C	G	C54519361G	SNX18	NM_001102575.2(SNX18):c.1409C>G:p.Ser470Cys	coding	Benign
5	54981998	C	T	C54981998T	ESM1	NM_007036.5(ESM1):c.450G>A:p.Thr150=	coding	Benign
5	55108350	A	G	A55108350G	GZMA	NM_006144.4(GZMA):c.583A>G:p.Met195Val	coding	Benign
5	55161140	C	T	C55161140T	GPX8	NM_001008397.4(GPX8):c.351C>T:p.Arg117=	coding	Benign
5	55220382	C	T	C55220382T	MCIDAS	NM_001190787.3(MCIDAS):c.1142G>A:p.Arg381His	coding	Pathogenic
5	55220427	C	T	C55220427T	MCIDAS	NM_001190787.3(MCIDAS):c.1097G>A:p.Gly366Asp	coding	Pathogenic
5	55220693	G	A	G55220693A	MCIDAS	NM_001190787.3(MCIDAS):c.831C>T:p.Cys277=	coding	Benign
5	55220696	A	G	A55220696G	MCIDAS	NM_001190787.2(MCIDAS):c.828T>C:p.Asp276=	coding	Benign
5	55220703	C	T	C55220703T	MCIDAS	NM_001190787.2(MCIDAS):c.821G>A:p.Gly274Glu	coding	Benign
5	55220750	G	A	G55220750A	MCIDAS	NM_001190787.2(MCIDAS):c.774C>T:p.Leu258=	coding	Benign
5	55221014	A	C	A55221014C	MCIDAS	NM_001190787.3(MCIDAS):c.717+2T>G	noncoding	Pathogenic
5	55221108	G	A	G55221108A	MCIDAS	NM_001190787.3(MCIDAS):c.625C>T:p.Gln209Ter	coding	Pathogenic
5	55222341	G	T	G55222341T	MCIDAS	NM_001190787.3(MCIDAS):c.441C>A:p.Cys147Ter	coding	Pathogenic
5	55226890	C	A	C55226890A	MCIDAS	NM_001190787.2(MCIDAS):c.162G>T:p.Gly54=	coding	Benign
5	55227016	C	T	C55227016T	MCIDAS	NM_001190787.2(MCIDAS):c.120+3G>A	noncoding	Benign
5	55227046	G	C	G55227046C	MCIDAS	NM_001190787.2(MCIDAS):c.93C>G:p.Leu31=	coding	Benign
5	55231467	G	A	G55231467A	CCNO	NM_021147.5(CCNO):c.961C>T:p.Gln321Ter	coding	Pathogenic
5	55231471	C	T	C55231471T	CCNO	NM_021147.5(CCNO):c.957G>A:p.Lys319=	coding	Benign
5	55231488	C	T	C55231488T	CCNO	NM_021147.5(CCNO):c.940G>A:p.Glu314Lys	coding	Benign/Likely_benign
5	55231638	C	G	C55231638G	CCNO	NM_021147.5(CCNO):c.790G>C:p.Gly264Arg	coding	Benign
5	55231648	G	A	G55231648A	CCNO	NM_021147.5(CCNO):c.780C>T:p.Ala260=	coding	Benign
5	55231653	G	A	G55231653A	CCNO	NM_021147.5(CCNO):c.775C>T:p.Gln259Ter	coding	Pathogenic
5	55231712	T	C	T55231712C	CCNO	NM_021147.5(CCNO):c.716A>G:p.His239Arg	coding	Pathogenic
5	55231790	A	G	A55231790G	CCNO	NM_021147.5(CCNO):c.638T>C:p.Leu213Pro	coding	Pathogenic
5	55232560	G	C	G55232560C	CCNO	NM_021147.5(CCNO):c.382-14C>G	coding	Benign
5	55232565	G	C	G55232565C	CCNO	NM_021147.5(CCNO):c.382-19C>G	coding	Benign
5	55233170	C	T	C55233170T	CCNO	NM_021147.5(CCNO):c.354G>A:p.Pro118=	coding	Benign
5	55247753	A	G	A55247753G	IL6ST	NC_000005.10:g.55247753A>G	noncoding	Pathogenic
5	55308070	T	G	T55308070G	MTREX	NM_015360.5(MTREX):c.57T>G:p.Thr19=	coding	Benign
5	55400298	A	G	A55400298G	MTREX	NM_015360.5(MTREX):c.2358A>G:p.Gln786=	coding	Benign
5	55645869	T	A	T55645869A	SLC38A9	NM_173514.4(SLC38A9):c.1087A>T:p.Thr363Ser	coding	Benign
5	55788009	A	G	A55788009G	DDX4	NM_024415.3(DDX4):c.1172+9A>G	noncoding	Benign
5	55792682	T	G	T55792682G	DDX4	NM_024415.3(DDX4):c.1344T>G:p.Ala448=	coding	Benign
5	55792752	A	G	A55792752G	DDX4	NM_024415.3(DDX4):c.1414A>G:p.Lys472Glu	coding	Benign
5	55851624	G	A	G55851624A	IL31RA	NM_001242638.2(IL31RA):c.-368G>A	coding	Benign
5	55859576	C	T	C55859576T	IL31RA	NM_001242638.2(IL31RA):c.74C>T:p.Ser25Leu	coding	Benign
5	55872429	A	G	A55872429G	IL31RA	NM_001242638.2(IL31RA):c.375A>G:p.Thr125=	coding	Benign
5	55890071	G	A	G55890071A	IL31RA	NM_001242638.2(IL31RA):c.651G>A:p.Ala217=	coding	Benign
5	55896341	T	C	T55896341C	IL31RA	NM_001242638.2(IL31RA):c.716-9T>C	noncoding	Benign
5	55910592	C	T	C55910592T	IL31RA	NM_001242638.2(IL31RA):c.1505C>T:p.Ser502Phe	coding	Pathogenic
5	55916773	G	A	G55916773A	IL31RA	NM_001242638.2(IL31RA):c.1891G>A:p.Glu631Lys	coding	Benign
5	55941186	C	T	C55941186T	IL6ST	NM_002184.4(IL6ST):c.2653G>A:p.Val885Ile	coding	Benign
5	55952309	G	A	G55952309A	IL6ST	NM_002184.4(IL6ST):c.1493C>T:p.Pro498Leu	coding	Pathogenic
5	55956082	T	A	T55956082A	IL6ST	NM_002184.4(IL6ST):c.1210A>T:p.Asn404Tyr	coding	Pathogenic
5	55960534	G	A	G55960534A	IL6ST	NM_002184.4(IL6ST):c.841C>T:p.Arg281Ter	coding	Pathogenic
5	55963493	C	T	C55963493T	IL6ST	NM_002184.4(IL6ST):c.672G>A:p.Pro224=	coding	Benign
5	56116745	C	T	C56116745T	ANKRD55	NM_024669.3(ANKRD55):c.835G>A:p.Glu279Lys	coding	Benign
5	56126996	C	T	C56126996T	ANKRD55	NM_024669.3(ANKRD55):c.723G>A:p.Ala241=	coding	Benign
5	56815654	C	T	C56815654T	MAP3K1	NM_005921.2(MAP3K1):c.81C>T:p.Gly27=	coding	Benign
5	56815738	G	A	G56815738A	MAP3K1	NM_005921.2(MAP3K1):c.165G>A:p.Ala55=	coding	Benign
5	56815806	T	C	T56815806C	MAP3K1	NM_005921.2(MAP3K1):c.233T>C:p.Leu78Pro	coding	Benign
5	56815807	C	T	C56815807T	MAP3K1	NM_005921.2(MAP3K1):c.234C>T:p.Leu78=	coding	Benign
5	56815924	G	C	G56815924C	MAP3K1	NM_005921.2(MAP3K1):c.351G>C:p.Ala117=	coding	Benign
5	56815967	G	C	G56815967C	MAP3K1	NM_005921.2(MAP3K1):c.394G>C:p.Asp132His	coding	Benign
5	56838449	A	G	A56838449G	MAP3K1	NM_005921.2(MAP3K1):c.483-18151A>G	noncoding	Benign
5	56856589	C	A	C56856589A	MAP3K1	NM_005921.2(MAP3K1):c.483-11C>A	noncoding	Benign
5	56856683	T	C	T56856683C	MAP3K1	NM_005921.2(MAP3K1):c.566T>C:p.Leu189Pro	coding	Pathogenic
5	56856683	T	G	T56856683G	MAP3K1	NM_005921.2(MAP3K1):c.566T>G:p.Leu189Arg	coding	Pathogenic
5	56859707	T	A	T56859707A	MAP3K1	NM_005921.2(MAP3K1):c.634-8T>A	noncoding	Pathogenic
5	56859791	A	G	A56859791G	MAP3K1	NM_005921.2(MAP3K1):c.710A>G:p.Gln237Arg	coding	Benign/Likely_benign
5	56859801	G	A	G56859801A	MAP3K1	NM_005921.2(MAP3K1):c.720G>A:p.Ala240=	coding	Benign
5	56859843	C	T	C56859843T	MAP3K1	NM_005921.2(MAP3K1):c.762C>T:p.Gly254=	coding	Benign
5	56859845	A	G	A56859845G	MAP3K1	NM_005921.2(MAP3K1):c.764A>G:p.Asn255Ser	coding	Benign
5	56859924	A	G	A56859924G	MAP3K1	NM_005921.2(MAP3K1):c.834+9A>G	noncoding	Benign
5	56864793	A	G	A56864793G	MAP3K1	NM_005921.2(MAP3K1):c.894A>G:p.Pro298=	coding	Benign
5	56865435	A	G	A56865435G	MAP3K1	NM_005921.2(MAP3K1):c.1131A>G:p.Arg377=	coding	Benign
5	56865960	G	A	G56865960A	MAP3K1	NM_005921.2(MAP3K1):c.1284G>A:p.Thr428=	coding	Benign
5	56872885	C	T	C56872885T	MAP3K1	NM_005921.2(MAP3K1):c.1566C>T:p.Thr522=	coding	Benign
5	56872963	A	G	A56872963G	MAP3K1	NM_005921.2(MAP3K1):c.1644A>G:p.Gln548=	coding	Benign
5	56875105	T	A	T56875105A	MAP3K1	NM_005921.2(MAP3K1):c.1760T>A:p.Leu587His	coding	Pathogenic
5	56875262	G	A	G56875262A	MAP3K1	NM_005921.2(MAP3K1):c.1917G>A:p.Leu639=	coding	Benign
5	56880734	C	G	C56880734G	MAP3K1	NM_005921.2(MAP3K1):c.2111C>G:p.Ser704Ter	coding	Pathogenic
5	56881616	G	A	G56881616A	MAP3K1	NM_005921.2(MAP3K1):c.2416G>A:p.Asp806Asn	coding	Benign
5	56881865	G	C	G56881865C	MAP3K1	NM_005921.2(MAP3K1):c.2665G>C:p.Val889Leu	coding	Benign
5	56881916	G	A	G56881916A	MAP3K1	NM_005921.2(MAP3K1):c.2716G>A:p.Val906Ile	coding	Benign
5	56881957	A	G	A56881957G	MAP3K1	NM_005921.2(MAP3K1):c.2757A>G:p.Lys919=	coding	Benign
5	56882016	C	G	C56882016G	MAP3K1	NM_005921.2(MAP3K1):c.2816C>G:p.Ser939Cys	coding	Benign
5	56882086	C	G	C56882086G	MAP3K1	NM_005921.2(MAP3K1):c.2886C>G:p.Pro962=	coding	Benign
5	56882287	C	T	C56882287T	MAP3K1	NM_005921.2(MAP3K1):c.3087C>T:p.Phe1029=	coding	Benign
5	56882390	A	C	A56882390C	MAP3K1	NM_005921.2(MAP3K1):c.3190A>C:p.Arg1064=	coding	Benign
5	56882698	C	T	C56882698T	MAP3K1	NM_005921.2(MAP3K1):c.3498C>T:p.Thr1166=	coding	Benign
5	56882788	A	C	A56882788C	MAP3K1	NM_005921.2(MAP3K1):c.3588A>C:p.Ser1196=	coding	Benign
5	56883643	A	G	A56883643G	MAP3K1	NM_005921.2(MAP3K1):c.3783A>G:p.Gln1261=	coding	Benign
5	56888246	T	C	T56888246C	MAP3K1	NM_005921.2(MAP3K1):c.4278T>C:p.Tyr1426=	coding	Benign
5	57482654	G	A	G57482654A	ACTBL2	NM_001017992.4(ACTBL2):c.54C>T:p.Cys18=	coding	Benign
5	58458110	C	T	C58458110T	PLK2	NM_006622.4(PLK2):c.687G>A:p.Arg229=	coding	Benign
5	58494776	C	T	C58494776T	GAPT	NM_001304428.2(GAPT):c.240C>T:p.His80=	coding	Benign
5	58494783	G	A	G58494783A	GAPT	NM_001304428.2(GAPT):c.247G>A:p.Ala83Thr	coding	Benign
5	58969360	G	A	G58969360A	PDE4D	NM_001104631.2(PDE4D):c.*5304C>T	noncoding	Benign
5	58969404	A	G	A58969404G	PDE4D	NM_001104631.2(PDE4D):c.*5260T>C	noncoding	Benign
5	58969423	A	G	A58969423G	PDE4D	NM_001104631.2(PDE4D):c.*5241T>C	noncoding	Benign
5	58969539	G	A	G58969539A	PDE4D	NM_001104631.2(PDE4D):c.*5125C>T	noncoding	Benign
5	58969546	A	C	A58969546C	PDE4D	NM_001104631.2(PDE4D):c.*5118T>G	noncoding	Benign
5	58969699	C	A	C58969699A	PDE4D	NM_001104631.2(PDE4D):c.*4965G>T	noncoding	Benign
5	58969749	G	A	G58969749A	PDE4D	NM_001104631.2(PDE4D):c.*4915C>T	noncoding	Benign
5	58970004	G	A	G58970004A	PDE4D	NM_001104631.2(PDE4D):c.*4660C>T	noncoding	Benign
5	58970005	A	C	A58970005C	PDE4D	NM_001104631.2(PDE4D):c.*4659T>G	noncoding	Benign
5	58970042	C	A	C58970042A	PDE4D	NM_001104631.2(PDE4D):c.*4622G>T	noncoding	Benign
5	58970266	A	C	A58970266C	PDE4D	NM_001104631.2(PDE4D):c.*4398T>G	noncoding	Benign
5	58970625	C	A	C58970625A	PDE4D	NM_001104631.2(PDE4D):c.*4039G>T	noncoding	Benign
5	58970663	G	C	G58970663C	PDE4D	NM_001104631.2(PDE4D):c.*4001C>G	noncoding	Benign
5	58971076	T	G	T58971076G	PDE4D	NM_001104631.2(PDE4D):c.*3588A>C	noncoding	Benign
5	58971315	A	T	A58971315T	PDE4D	NM_001104631.2(PDE4D):c.*3349T>A	noncoding	Benign
5	58971450	A	T	A58971450T	PDE4D	NM_001104631.2(PDE4D):c.*3214T>A	noncoding	Benign
5	58971730	C	T	C58971730T	PDE4D	NM_001104631.2(PDE4D):c.*2934G>A	noncoding	Benign
5	58971896	A	C	A58971896C	PDE4D	NM_001104631.2(PDE4D):c.*2768T>G	noncoding	Benign
5	58972149	T	A	T58972149A	PDE4D	NM_001104631.2(PDE4D):c.*2515A>T	noncoding	Benign
5	58972154	G	A	G58972154A	PDE4D	NM_001104631.2(PDE4D):c.*2510C>T	noncoding	Benign
5	58972180	A	G	A58972180G	PDE4D	NM_001104631.2(PDE4D):c.*2484T>C	noncoding	Benign
5	58972328	A	C	A58972328C	PDE4D	NM_001104631.2(PDE4D):c.*2336T>G	noncoding	Benign
5	58972335	C	T	C58972335T	PDE4D	NM_001104631.2(PDE4D):c.*2329G>A	noncoding	Benign
5	58972376	T	C	T58972376C	PDE4D	NM_001104631.2(PDE4D):c.*2288A>G	noncoding	Benign
5	58972385	C	A	C58972385A	PDE4D	NM_001104631.2(PDE4D):c.*2279G>T	noncoding	Benign
5	58972598	A	G	A58972598G	PDE4D	NM_001104631.2(PDE4D):c.*2066T>C	noncoding	Benign
5	58972726	G	A	G58972726A	PDE4D	NM_001104631.2(PDE4D):c.*1938C>T	noncoding	Benign
5	58972814	A	G	A58972814G	PDE4D	NM_001104631.2(PDE4D):c.*1850T>C	noncoding	Benign
5	58972891	T	C	T58972891C	PDE4D	NM_001104631.2(PDE4D):c.*1773A>G	noncoding	Benign
5	58973026	C	T	C58973026T	PDE4D	NM_001104631.2(PDE4D):c.*1638G>A	noncoding	Benign
5	58973027	G	A	G58973027A	PDE4D	NM_001104631.2(PDE4D):c.*1637C>T	noncoding	Benign
5	58973303	G	A	G58973303A	PDE4D	NM_001104631.2(PDE4D):c.*1361C>T	noncoding	Benign
5	58973341	T	A	T58973341A	PDE4D	NM_001104631.2(PDE4D):c.*1323A>T	noncoding	Benign
5	58973413	T	C	T58973413C	PDE4D	NM_001104631.2(PDE4D):c.*1251A>G	noncoding	Benign
5	58973833	T	G	T58973833G	PDE4D	NM_001104631.2(PDE4D):c.*831A>C	noncoding	Benign
5	58974198	C	A	C58974198A	PDE4D	NM_001104631.2(PDE4D):c.*466G>T	noncoding	Benign
5	58974667	C	T	C58974667T	PDE4D	NM_001104631.2(PDE4D):c.2427G>A:p.Thr809=	coding	Benign
5	58974693	C	T	C58974693T	PDE4D	NM_001104631.2(PDE4D):c.2401G>A:p.Val801Ile	coding	Benign
5	58975061	A	G	A58975061G	PDE4D	NM_001104631.2(PDE4D):c.2033T>C:p.Ile678Thr	coding	Pathogenic
5	58975076	C	T	C58975076T	PDE4D	NM_001104631.2(PDE4D):c.2018G>A:p.Gly673Asp	coding	Pathogenic
5	58975718	T	G	T58975718G	PDE4D	NM_001104631.2(PDE4D):c.1952A>C:p.Glu651Ala	coding	Pathogenic
5	58976421	T	G	T58976421G	PDE4D	NM_001104631.2(PDE4D):c.1759A>C:p.Thr587Pro	coding	Pathogenic
5	58977206	T	C	T58977206C	PDE4D	NM_001104631.2(PDE4D):c.1692A>G:p.Lys564=	coding	Benign
5	58988486	T	C	T58988486C	PDE4D	NM_001104631.2(PDE4D):c.1552+7A>G	noncoding	Benign
5	58989747	A	G	A58989747G	PDE4D	NM_001104631.2(PDE4D):c.1452+8T>C	noncoding	Benign
5	58990798	C	T	C58990798T	PDE4D	NM_001104631.2(PDE4D):c.1287+6G>A	noncoding	Benign
5	58991967	C	T	C58991967T	PDE4D	NM_001104631.2(PDE4D):c.1053G>A:p.Gln351=	coding	Benign/Likely_benign
5	58991979	A	G	A58991979G	PDE4D	NM_001104631.2(PDE4D):c.1041T>C:p.Pro347=	coding	Benign
5	58993394	C	T	C58993394T	PDE4D	NM_001104631.2(PDE4D):c.993G>A:p.Glu331=	coding	Benign
5	59038869	G	A	G59038869A	PDE4D	NM_001104631.2(PDE4D):c.911C>T:p.Ala304Val	coding	Pathogenic
5	59038889	C	T	C59038889T	PDE4D	NM_001104631.2(PDE4D):c.891G>A:p.Arg297=	coding	Benign
5	59038899	A	C	A59038899C	PDE4D	NM_001104631.2(PDE4D):c.881T>G:p.Leu294Arg	coding	Pathogenic
5	59185242	A	G	A59185242G	PDE4D	NM_001104631.2(PDE4D):c.705T>C:p.Thr235=	coding	Benign
5	59193502	G	C	G59193502C	PDE4D	NM_001104631.2(PDE4D):c.682C>G:p.Gln228Glu	coding	Pathogenic
5	59193507	A	C	A59193507C	PDE4D	NM_001104631.2(PDE4D):c.677T>G:p.Phe226Cys	coding	Pathogenic
5	59193507	A	G	A59193507G	PDE4D	NM_001104631.2(PDE4D):c.677T>C:p.Phe226Ser	coding	Pathogenic
5	59193511	G	T	G59193511T	PDE4D	NM_001104631.2(PDE4D):c.673C>A:p.Pro225Thr	coding	Pathogenic
5	59215856	A	C	A59215856C	PDE4D	NM_001104631.2(PDE4D):c.568T>G:p.Ser190Ala	coding	Pathogenic
5	59215980	G	A	G59215980A	PDE4D	NM_001104631.2(PDE4D):c.456-12C>T	noncoding	Benign
5	59893284	C	T	C59893284T	PDE4D	NM_001104631.2(PDE4D):c.339G>A:p.Glu113=	coding	Benign
5	59893311	G	C	G59893311C	PDE4D	NM_001104631.2(PDE4D):c.312C>G:p.Val104=	coding	Benign
5	59893355	C	T	C59893355T	PDE4D	NM_001104631.2(PDE4D):c.268G>A:p.Ala90Thr	coding	Benign
5	59893498	G	T	G59893498T	PDE4D	NM_001104631.2(PDE4D):c.125C>A:p.Pro42Gln	coding	Benign
5	59893680	C	A	C59893680A	PDE4D	NM_001104631.2(PDE4D):c.-58G>T	coding	Benign
5	60874032	A	G	A60874032G	ERCC8	NM_000082.4(ERCC8):c.*583T>C	noncoding	Benign
5	60874096	G	T	G60874096T	ERCC8	NM_000082.3(ERCC8):c.*519C>A	noncoding	Benign
5	60874157	A	G	A60874157G	ERCC8	NM_000082.4(ERCC8):c.*458T>C	noncoding	Benign
5	60874176	C	A	C60874176A	ERCC8	NM_000082.3(ERCC8):c.*439G>T	noncoding	Benign
5	60874378	A	G	A60874378G	ERCC8	NM_000082.3(ERCC8):c.*237T>C	noncoding	Benign
5	60874510	A	G	A60874510G	ERCC8	NM_000082.3(ERCC8):c.*105T>C	noncoding	Benign
5	60874579	G	A	G60874579A	ERCC8	NM_000082.3(ERCC8):c.*36C>T	noncoding	Benign
5	60887479	C	A	C60887479A	ERCC8	NM_000082.3(ERCC8):c.1083G>T:p.Trp361Cys	coding	Pathogenic
5	60887482	A	G	A60887482G	ERCC8	NM_000082.3(ERCC8):c.1080T>C:p.Ala360=	coding	Benign
5	60887494	G	T	G60887494T	ERCC8	NM_000082.4(ERCC8):c.1068C>A:p.Cys356Ter	coding	Pathogenic
5	60887522	T	C	T60887522C	ERCC8	NM_000082.3(ERCC8):c.1042-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	60890913	G	T	G60890913T	ERCC8	NM_000082.3(ERCC8):c.1017C>A:p.Cys339Ter	coding	Pathogenic
5	60890964	G	T	G60890964T	ERCC8	NM_000082.3(ERCC8):c.966C>A:p.Tyr322Ter	coding	Pathogenic
5	60898317	G	A	G60898317A	ERCC8	NM_000082.4(ERCC8):c.802C>T:p.Arg268Ter	coding	Pathogenic
5	60898322	T	C	T60898322C	ERCC8	NM_000082.3(ERCC8):c.797A>G:p.Asp266Gly	coding	Pathogenic
5	60898350	C	T	C60898350T	ERCC8	NM_000082.3(ERCC8):c.769G>A:p.Gly257Arg	coding	Pathogenic
5	60899728	C	T	C60899728T	ERCC8	NM_000082.3(ERCC8):c.618-1G>A	coding	Pathogenic
5	60902507	A	T	A60902507T	ERCC8	NM_000082.3(ERCC8):c.552T>A:p.Gly184=	coding	Benign
5	60902509	C	T	C60902509T	ERCC8	NM_000082.3(ERCC8):c.551-1G>A	coding	Pathogenic
5	60903694	T	C	T60903694C	ERCC8	NM_000082.3(ERCC8):c.504A>G:p.Val168=	coding	Benign
5	60903705	C	A	C60903705A	ERCC8	NM_000082.4(ERCC8):c.493G>T:p.Gly165Ter	coding	Pathogenic
5	60904791	C	G	C60904791G	ERCC8	NM_000082.4(ERCC8):c.481+1G>C	noncoding	Pathogenic
5	60904838	A	G	A60904838G	ERCC8	NM_000082.3(ERCC8):c.435T>C:p.Tyr145=	coding	Benign
5	60918301	A	G	A60918301G	ERCC8	NM_000082.3(ERCC8):c.363T>C:p.Asp121=	coding	Benign
5	60918364	G	C	G60918364C	ERCC8	NM_001290285.1(ERCC8):c.-78C>G	coding	Pathogenic
5	60922092	T	C	T60922092C	ERCC8	NM_000082.3(ERCC8):c.237A>G:p.Gln79=	coding	Benign
5	60927706	T	C	T60927706C	ERCC8	NM_000082.3(ERCC8):c.173+1158A>G	noncoding	Benign
5	60927745	C	G	C60927745G	ERCC8	NM_000082.4(ERCC8):c.173+1119G>C	noncoding	Pathogenic
5	60928961	T	A	T60928961A	ERCC8	NM_000082.3(ERCC8):c.78-2A>T	noncoding	Pathogenic
5	60944972	C	A	C60944972A	ERCC8;NDUFAF2	NM_000082.3(ERCC8):c.37G>T:p.Glu13Ter	coding	Pathogenic
5	60945031	A	C	A60945031C	ERCC8	NM_000082.3(ERCC8):c.-23T>G	noncoding	Benign/Likely_benign
5	60945159	A	G	A60945159G	ERCC8;NDUFAF2	NM_174889.4(NDUFAF2):c.-97A>G	noncoding	Benign
5	60945256	A	T	A60945256T	NDUFAF2	NM_174889.5(NDUFAF2):c.1A>T:p.Met1Leu	coding	Pathogenic
5	60945264	G	A	G60945264A	NDUFAF2	NM_174889.5(NDUFAF2):c.9G>A:p.Trp3Ter	coding	Pathogenic
5	60945315	G	A	G60945315A	ERCC8;NDUFAF2	NM_174889.5(NDUFAF2):c.60G>A:p.Lys20=	coding	Benign
5	60945441	G	A	G60945441A	NDUFAF2	NM_174889.5(NDUFAF2):c.127+59G>A	noncoding	Benign
5	61073136	C	T	C61073136T	NDUFAF2	NM_174889.5(NDUFAF2):c.139C>T:p.Arg47Ter	coding	Pathogenic/Likely_pathogenic
5	61073256	A	G	A61073256G	NDUFAF2	NM_174889.5(NDUFAF2):c.217+42A>G	noncoding	Benign
5	61098975	A	T	A61098975T	NDUFAF2	NM_174889.5(NDUFAF2):c.218-17A>T	noncoding	Benign
5	61098995	G	A	G61098995A	NDUFAF2	NM_174889.5(NDUFAF2):c.221G>A:p.Trp74Ter	coding	Pathogenic
5	61152449	A	G	A61152449G	NDUFAF2	NM_174889.5(NDUFAF2):c.259-255A>G	noncoding	Benign
5	61152745	A	T	A61152745T	NDUFAF2	NM_174889.5(NDUFAF2):c.300A>T:p.Ile100=	coding	Benign/Likely_benign
5	61152907	T	C	T61152907C	NDUFAF2	NM_174889.5(NDUFAF2):c.462T>C:p.Phe154=	coding	Benign/Likely_benign
5	61526281	C	T	C61526281T	ZSWIM6	NM_020928.2(ZSWIM6):c.1722C>T:p.Asp574=	coding	Benign
5	61526288	C	T	C61526288T	ZSWIM6	NM_020928.2(ZSWIM6):c.1729C>T:p.Arg577Cys	coding	Benign/Likely_benign
5	61530107	T	C	T61530107C	ZSWIM6	NM_020928.2(ZSWIM6):c.1893T>C:p.His631=	coding	Benign
5	61530111	C	T	C61530111T	ZSWIM6	NM_020928.2(ZSWIM6):c.1897C>T:p.Leu633=	coding	Benign
5	61530120	G	A	G61530120A	ZSWIM6	NM_020928.2(ZSWIM6):c.1906G>A:p.Val636Met	coding	Benign
5	61531493	A	G	A61531493G	ZSWIM6	NM_020928.2(ZSWIM6):c.2013A>G:p.Glu671=	coding	Benign/Likely_benign
5	61531622	A	G	A61531622G	ZSWIM6	NM_020928.2(ZSWIM6):c.2142A>G:p.Lys714=	coding	Benign
5	61541917	C	T	C61541917T	ZSWIM6	NM_020928.2(ZSWIM6):c.2737C>T:p.Arg913Ter	coding	Pathogenic
5	61543606	C	T	C61543606T	ZSWIM6	NM_020928.2(ZSWIM6):c.2937C>T:p.Ser979=	coding	Benign
5	61544156	C	T	C61544156T	ZSWIM6	NM_020928.2(ZSWIM6):c.3487C>T:p.Arg1163Trp	coding	Pathogenic/Likely_pathogenic
5	62306741	G	C	G62306741C	KIF2A	NM_001098511.2(KIF2A):c.64+205G>C	noncoding	Benign
5	62306834	T	C	T62306834C	KIF2A	NM_001098511.2(KIF2A):c.64+298T>C	noncoding	Benign
5	62347004	A	G	A62347004G	KIF2A	NM_001098511.2(KIF2A):c.65-126A>G	noncoding	Benign
5	62347110	T	C	T62347110C	KIF2A	NM_001098511.2(KIF2A):c.65-20T>C	noncoding	Benign
5	62347989	G	A	G62347989A	KIF2A	NM_001098511.2(KIF2A):c.160-59G>A	noncoding	Benign
5	62348083	C	A	C62348083A	KIF2A	NM_001098511.2(KIF2A):c.195C>A:p.Asp65Glu	coding	Benign
5	62350069	C	T	C62350069T	KIF2A	NM_001098511.3(KIF2A):c.283C>T:p.Arg95Ter	coding	Pathogenic
5	62350127	T	C	T62350127C	KIF2A	NM_001098511.3(KIF2A):c.334+7T>C	noncoding	Benign
5	62352496	A	G	A62352496G	KIF2A	NM_001098511.2(KIF2A):c.335-92A>G	noncoding	Benign
5	62352635	T	C	T62352635C	KIF2A	NM_001098511.2(KIF2A):c.382T>C:p.Ser128Pro	coding	Benign
5	62352791	G	A	G62352791A	KIF2A	NM_001098511.2(KIF2A):c.457+81G>A	noncoding	Benign
5	62352901	G	A	G62352901A	KIF2A	NM_001098511.2(KIF2A):c.457+191G>A	noncoding	Benign
5	62352911	T	G	T62352911G	KIF2A	NM_001098511.2(KIF2A):c.457+201T>G	noncoding	Benign
5	62353520	T	A	T62353520A	KIF2A	NM_001098511.2(KIF2A):c.558+145T>A	noncoding	Benign
5	62353576	T	G	T62353576G	KIF2A	NM_001098511.2(KIF2A):c.558+201T>G	noncoding	Benign
5	62355016	G	A	G62355016A	KIF2A	NM_001098511.2(KIF2A):c.559-143G>A	noncoding	Benign
5	62355143	C	G	C62355143G	KIF2A	NM_001098511.2(KIF2A):c.559-16C>G	noncoding	Benign
5	62355421	T	C	T62355421C	KIF2A	NM_001098511.2(KIF2A):c.654+167T>C	noncoding	Benign
5	62357417	C	G	C62357417G	KIF2A	NM_001098511.2(KIF2A):c.655-274C>G	noncoding	Benign
5	62357930	C	T	C62357930T	KIF2A	NM_001098511.2(KIF2A):c.709+185C>T	noncoding	Benign
5	62358360	G	C	G62358360C	KIF2A	NM_001098511.2(KIF2A):c.872+61G>C	noncoding	Benign
5	62360962	T	C	T62360962C	KIF2A	NM_001098511.2(KIF2A):c.873-280T>C	noncoding	Benign
5	62361305	T	C	T62361305C	KIF2A	NM_001098511.2(KIF2A):c.936T>C:p.Tyr312=	coding	Benign
5	62361319	G	A	G62361319A	KIF2A	NM_004520.4(KIF2A):c.950G>A:p.Ser317Asn	coding	Pathogenic
5	62361328	C	T	C62361328T	KIF2A	NM_001098511.2(KIF2A):c.959C>T:p.Thr320Ile	coding	Pathogenic/Likely_pathogenic
5	62361330	C	G	C62361330G	KIF2A	NM_004520.4(KIF2A):c.961C>G:p.His321Asp	coding	Pathogenic
5	62361401	T	C	T62361401C	KIF2A	NM_001098511.2(KIF2A):c.964-65T>C	noncoding	Benign
5	62361747	T	C	T62361747C	KIF2A	NM_001098511.2(KIF2A):c.1027+218T>C	noncoding	Benign
5	62361759	T	C	T62361759C	KIF2A	NM_001098511.2(KIF2A):c.1027+230T>C	noncoding	Benign
5	62362434	A	G	A62362434G	KIF2A	NM_001098511.2(KIF2A):c.1028-16A>G	noncoding	Benign
5	62362821	T	A	T62362821A	KIF2A	NM_001098511.2(KIF2A):c.1119+280T>A	noncoding	Benign
5	62363512	C	T	C62363512T	KIF2A	NM_001098511.2(KIF2A):c.1263-183C>T	noncoding	Benign
5	62366602	C	T	C62366602T	KIF2A	NM_001098511.2(KIF2A):c.1646+121C>T	noncoding	Benign
5	62366630	G	A	G62366630A	KIF2A	NM_001098511.2(KIF2A):c.1646+149G>A	noncoding	Benign
5	62372492	C	G	C62372492G	KIF2A	NM_001098511.2(KIF2A):c.1701C>G:p.Gly567=	coding	Benign/Likely_benign
5	62373449	A	G	A62373449G	KIF2A	NM_001098511.2(KIF2A):c.1761-238A>G	noncoding	Benign
5	62373663	T	C	T62373663C	KIF2A	NM_001098511.2(KIF2A):c.1761-24T>C	noncoding	Benign
5	62373676	T	C	T62373676C	KIF2A	NM_001098511.2(KIF2A):c.1761-11T>C	noncoding	Benign
5	62377696	C	T	C62377696T	KIF2A	NM_001098511.2(KIF2A):c.1947C>T:p.His649=	coding	Benign/Likely_benign
5	62377843	A	G	A62377843G	KIF2A	NM_001098511.2(KIF2A):c.2013+81A>G	noncoding	Benign
5	62381075	G	T	G62381075T	KIF2A	NM_001098511.2(KIF2A):c.2014-43G>T	noncoding	Benign
5	62381148	G	A	G62381148A	KIF2A	NM_001098511.2(KIF2A):c.2044G>A:p.Ala682Thr	coding	Benign
5	62385441	G	A	G62385441A	KIF2A	NM_001098511.2(KIF2A):c.2150-43G>A	noncoding	Benign
5	62451753	C	G	C62451753G	IPO11	NM_001134779.1(IPO11):c.456C>G:p.Leu152=	coding	Benign
5	62470318	C	T	C62470318T	IPO11	NM_001134779.1(IPO11):c.828+10C>T	noncoding	Benign
5	62474443	C	T	C62474443T	IPO11	NM_001134779.1(IPO11):c.856C>T:p.Leu286=	coding	Benign
5	62476703	A	G	A62476703G	IPO11	NM_001134779.1(IPO11):c.898A>G:p.Asn300Asp	coding	Benign
5	62504871	T	C	T62504871C	IPO11	NM_001134779.1(IPO11):c.1758T>C:p.Phe586=	coding	Benign
5	62537217	A	G	A62537217G	IPO11	NM_001134779.1(IPO11):c.2298A>G:p.Ala766=	coding	Benign
5	62551273	A	C	A62551273C	IPO11	NM_001134779.1(IPO11):c.2517A>C:p.Leu839=	coding	Benign
5	62551276	A	G	A62551276G	IPO11	NM_001134779.1(IPO11):c.2520A>G:p.Leu840=	coding	Benign
5	63960902	C	T	C63960902T	HTR1A	NM_000524.4(HTR1A):c.818G>A:p.Gly273Asp	coding	Benign
5	63961297	G	A	G63961297A	HTR1A	NM_000524.4(HTR1A):c.423C>T:p.Pro141=	coding	Benign
5	63961638	T	C	T63961638C	HTR1A	NM_000524.4(HTR1A):c.82A>G:p.Ile28Val	coding	Benign
5	63961673	G	A	G63961673A	HTR1A	NM_000524.4(HTR1A):c.47C>T:p.Pro16Leu	coding	Benign
5	64785579	G	A	G64785579A	CWC27	NM_005869.4(CWC27):c.495G>A:p.Glu165=	coding	Pathogenic
5	64788968	C	A	C64788968A	CWC27	NM_005869.4(CWC27):c.617C>A:p.Ser206Ter	coding	Pathogenic
5	64800242	T	C	T64800242C	CWC27	NM_005869.4(CWC27):c.670-6T>C	noncoding	Benign
5	64885447	G	T	G64885447T	CWC27	NM_005869.4(CWC27):c.943G>T:p.Glu315Ter	coding	Pathogenic
5	64885553	G	A	G64885553A	CWC27	NM_005869.4(CWC27):c.1042+7G>A	noncoding	Benign
5	64971734	C	G	C64971734G	CWC27	NM_005869.4(CWC27):c.1074C>G:p.Ala358=	coding	Benign
5	65224338	T	C	T65224338C	ADAMTS6	NM_197941.4(ADAMTS6):c.2254A>G:p.Met752Val	coding	Benign
5	66012096	A	G	A66012096G	ERBIN	NM_001253697.2(ERBIN):c.355A>G:p.Ile119Val	coding	Benign
5	66025484	G	A	G66025484A	ERBIN	NM_001253697.2(ERBIN):c.822G>A:p.Ser274=	coding	Benign
5	66025922	C	T	C66025922T	ERBIN	NM_001253697.2(ERBIN):c.965C>T:p.Thr322Ile	coding	Benign
5	66048723	A	C	A66048723C	ERBIN	NM_001253697.2(ERBIN):c.1845A>C:p.Pro615=	coding	Benign
5	66054059	A	G	A66054059G	ERBIN	NM_001253697.2(ERBIN):c.2741A>G:p.Lys914Arg	coding	Benign
5	66054174	C	T	C66054174T	ERBIN	NM_001253697.2(ERBIN):c.2856C>T:p.Pro952=	coding	Benign
5	66054451	C	T	C66054451T	ERBIN	NM_001253697.2(ERBIN):c.3133C>T:p.His1045Tyr	coding	Benign
5	66054584	G	T	G66054584T	ERBIN	NM_001253697.2(ERBIN):c.3266G>T:p.Gly1089Val	coding	Benign
5	66054631	T	C	T66054631C	ERBIN	NM_001253697.2(ERBIN):c.3313T>C:p.Leu1105=	coding	Benign
5	66759735	C	T	C66759735T	MAST4	NM_001164664.2(MAST4):c.390C>T:p.Pro130=	coding	Benign
5	66759828	G	A	G66759828A	MAST4	NM_001164664.2(MAST4):c.483G>A:p.Gln161=	coding	Benign
5	67131901	G	A	G67131901A	MAST4	NM_001164664.2(MAST4):c.2043G>A:p.Leu681=	coding	Benign
5	67152732	T	A	T67152732A	MAST4	NM_001164664.2(MAST4):c.3391T>A:p.Ser1131Thr	coding	Benign
5	67165563	G	C	G67165563C	MAST4	NM_001164664.2(MAST4):c.6384G>C:p.Arg2128Ser	coding	Benign
5	67166315	A	G	A67166315G	MAST4	NM_001164664.2(MAST4):c.7136A>G:p.Tyr2379Cys	coding	Benign
5	67183091	C	T	C67183091T	CD180	NM_005582.3(CD180):c.1752G>A:p.Ser584=	coding	Benign
5	67183555	T	C	T67183555C	CD180	NM_005582.3(CD180):c.1288A>G:p.Thr430Ala	coding	Benign
5	67183649	C	T	C67183649T	CD180	NM_005582.3(CD180):c.1194G>A:p.Leu398=	coding	Benign
5	67184177	C	T	C67184177T	CD180	NM_005582.3(CD180):c.666G>A:p.Thr222=	coding	Benign
5	68226870	A	G	A68226870G	PIK3R1	NM_181523.3(PIK3R1):c.195A>G:p.Glu65=	coding	Benign
5	68226894	C	T	C68226894T	PIK3R1	NM_181523.3(PIK3R1):c.219C>T:p.Tyr73=	coding	Benign/Likely_benign
5	68227023	A	C	A68227023C	PIK3R1	NM_181523.3(PIK3R1):c.334+14A>C	noncoding	Benign/Likely_benign
5	68279670	C	T	C68279670T	PIK3R1	NM_181523.3(PIK3R1):c.571C>T:p.Leu191=	coding	Benign
5	68279720	T	C	T68279720C	PIK3R1	NM_181523.3(PIK3R1):c.621T>C:p.Ile207=	coding	Benign/Likely_benign
5	68279739	T	C	T68279739C	PIK3R1	NM_181523.3(PIK3R1):c.634+6T>C	noncoding	Benign/Likely_benign
5	68280580	G	A	G68280580A	PIK3R1	NM_181523.3(PIK3R1):c.687G>A:p.Ser229=	coding	Benign
5	68280920	C	T	C68280920T	PIK3R1	NM_181523.3(PIK3R1):c.837-7C>T	noncoding	Benign
5	68280983	G	A	G68280983A	PIK3R1	NM_181523.3(PIK3R1):c.893G>A:p.Trp298Ter	coding	Pathogenic
5	68292320	G	A	G68292320A	PIK3R1	NM_181523.3(PIK3R1):c.978G>A:p.Met326Ile	coding	Benign/Likely_benign
5	68293123	C	T	C68293123T	PIK3R1	NM_181523.3(PIK3R1):c.1042C>T:p.Arg348Ter	coding	Pathogenic
5	68293354	T	C	T68293354C	PIK3R1	NM_181523.3(PIK3R1):c.1170T>C:p.Tyr390=	coding	Benign
5	68293360	C	T	C68293360T	PIK3R1	NM_181523.3(PIK3R1):c.1176C>T:p.Phe392=	coding	Benign/Likely_benign
5	68293708	G	C	G68293708C	PIK3R1	NM_181523.3(PIK3R1):c.1300-1G>C	noncoding	Pathogenic
5	68293790	C	T	C68293790T	PIK3R1	NM_181523.3(PIK3R1):c.1381C>T:p.Arg461Ter	coding	Pathogenic
5	68293835	G	A	G68293835A	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>A	coding	Pathogenic/Likely_pathogenic
5	68293835	G	C	G68293835C	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>C	coding	Pathogenic
5	68293835	G	T	G68293835T	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>T	coding	Pathogenic
5	68293836	T	A	T68293836A	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>A	noncoding	Pathogenic
5	68293836	T	G	T68293836G	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>G	noncoding	Pathogenic
5	68294575	G	A	G68294575A	PIK3R1	NM_181523.3(PIK3R1):c.1465G>A:p.Glu489Lys	coding	Pathogenic
5	68296248	G	A	G68296248A	PIK3R1	NM_181523.3(PIK3R1):c.1892G>A:p.Arg631Gln	coding	Pathogenic
5	68296301	C	T	C68296301T	PIK3R1	NM_181523.3(PIK3R1):c.1945C>T:p.Arg649Trp	coding	Pathogenic/Likely_pathogenic
5	68296327	T	G	T68296327G	PIK3R1	NM_181523.3(PIK3R1):c.1971T>G:p.Tyr657Ter	coding	Pathogenic
5	68297535	T	C	T68297535C	PIK3R1	NM_181523.3(PIK3R1):c.2109T>C:p.Leu703=	coding	Benign/Likely_benign
5	69100936	G	A	G69100936A	SLC30A5	NM_022902.5(SLC30A5):c.206+7G>A	noncoding	Benign
5	69103062	G	T	G69103062T	SLC30A5	NM_022902.5(SLC30A5):c.207G>T:p.Gly69=	coding	Benign
5	69118507	G	A	G69118507A	SLC30A5	NM_022902.5(SLC30A5):c.1448G>A:p.Arg483Gln	coding	Benign
5	69129476	A	G	A69129476G	SLC30A5	NM_022902.5(SLC30A5):c.2157A>G:p.Val719=	coding	Benign
5	69419483	C	T	C69419483T	MARVELD2	NM_001038603.3(MARVELD2):c.98C>T:p.Thr33Ile	coding	Benign
5	69419889	A	G	A69419889G	MARVELD2	NM_001038603.3(MARVELD2):c.504A>G:p.Thr168=	coding	Benign
5	69420000	C	T	C69420000T	MARVELD2	NM_001038603.3(MARVELD2):c.615C>T:p.Ala205=	coding	Benign/Likely_benign
5	69420251	G	A	G69420251A	MARVELD2	NM_001038603.3(MARVELD2):c.866G>A:p.Trp289Ter	coding	Pathogenic
5	69424592	T	G	T69424592G	MARVELD2	NM_001038603.3(MARVELD2):c.1147-9T>G	noncoding	Benign
5	69424614	C	G	C69424614G	MARVELD2	NM_001038603.3(MARVELD2):c.1160C>G:p.Ser387Ter	coding	Pathogenic
5	69432676	G	A	G69432676A	MARVELD2	NM_001038603.3(MARVELD2):c.1331+1G>A	coding	Pathogenic
5	69432677	T	C	T69432677C	MARVELD2	NM_001038603.3(MARVELD2):c.1331+2T>C	noncoding	Pathogenic
5	69433088	C	T	C69433088T	MARVELD2	NM_001038603.3(MARVELD2):c.1498C>T:p.Arg500Ter	coding	Pathogenic/Likely_pathogenic
5	69509160	C	G	C69509160G	OCLN	NM_001205254.2(OCLN):c.70C>G:p.Pro24Ala	coding	Benign
5	69509746	T	C	T69509746C	OCLN	NM_001205254.2(OCLN):c.656T>C:p.Phe219Ser	coding	Pathogenic
5	69509789	G	A	G69509789A	OCLN	NM_001205254.2(OCLN):c.699G>A:p.Leu233=	coding	Benign
5	69534724	G	A	G69534724A	OCLN	NM_001205254.2(OCLN):c.922G>A:p.Val308Met	coding	Benign/Likely_benign
5	69534840	G	A	G69534840A	OCLN	NM_001205254.2(OCLN):c.1037+1G>A	coding	Pathogenic
5	69534844	G	A	G69534844A	OCLN	NM_001205254.2(OCLN):c.1037+5G>A	noncoding	Pathogenic
5	69553614	G	C	G69553614C	OCLN	NM_001205254.2(OCLN):c.1512G>C:p.Lys504Asn	coding	Benign
5	70067122	A	G	A70067122G	SMN2	NM_017411.4(SMN2):c.462A>G:p.Gln154=	coding	Benign
5	70925108	C	G	C70925108G	SMN1	NM_000344.3(SMN1):c.5C>G:p.Ala2Gly	coding	Pathogenic
5	70938841	C	T	C70938841T	SMN1	NM_000344.3(SMN1):c.84C>T:p.Ser28=	coding	Benign
5	70938845	G	A	G70938845A	SMN1	NM_000344.3(SMN1):c.88G>A:p.Asp30Asn	coding	Pathogenic
5	70938888	A	T	A70938888T	SMN1	NM_000344.3(SMN1):c.131A>T:p.Asp44Val	coding	Pathogenic
5	70942367	G	C	G70942367C	SMN1	NM_000344.3(SMN1):c.283G>C:p.Gly95Arg	coding	Pathogenic
5	70942389	G	A	G70942389A	SMN1	NM_000344.3(SMN1):c.305G>A:p.Trp102Ter	coding	Pathogenic
5	70942416	C	G	C70942416G	SMN1	NM_000344.3(SMN1):c.332C>G:p.Ala111Gly	coding	Pathogenic
5	70942430	A	T	A70942430T	SMN1	NM_000344.3(SMN1):c.346A>T:p.Ile116Phe	coding	Pathogenic
5	70942472	T	C	T70942472C	SMN1	NM_000344.3(SMN1):c.388T>C:p.Tyr130His	coding	Pathogenic
5	70942473	A	G	A70942473G	SMN1	NM_000344.3(SMN1):c.389A>G:p.Tyr130Cys	coding	Pathogenic
5	70942490	C	G	C70942490G	SMN1	NM_000344.3(SMN1):c.406C>G:p.Gln136Glu	coding	Pathogenic
5	70942546	A	G	A70942546G	SMN1	NM_000344.3(SMN1):c.462A>G:p.Gln154=	coding	Benign/Likely_benign
5	70942553	C	T	C70942553T	SMN1	NM_000344.3(SMN1):c.469C>T:p.Gln157Ter	coding	Pathogenic
5	70942813	G	A	G70942813A	SMN1	NM_000344.3(SMN1):c.570G>A:p.Trp190Ter	coding	Pathogenic
5	70944713	T	A	T70944713A	SMN1	NM_000344.3(SMN1):c.683T>A:p.Leu228Ter	coding	Pathogenic
5	70946064	A	G	A70946064G	SMN1	NM_000344.3(SMN1):c.724-2A>G	noncoding	Pathogenic
5	70946126	A	G	A70946126G	SMN1	NM_000344.3(SMN1):c.784A>G:p.Ser262Gly	coding	Pathogenic
5	70946127	G	T	G70946127T	SMN1	NM_000344.3(SMN1):c.785G>T:p.Ser262Ile	coding	Pathogenic/Likely_pathogenic
5	70946157	A	G	A70946157G	SMN1	NM_000344.3(SMN1):c.815A>G:p.Tyr272Cys	coding	Pathogenic/Likely_pathogenic
5	70951939	A	G	A70951939G	SMN1	NM_000344.3(SMN1):c.835-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	70951940	G	A	G70951940A	SMN1	NM_000344.3(SMN1):c.835-1G>A	noncoding	Pathogenic
5	70951942	G	T	G70951942T	SMN1	NM_001297715.1(SMN1):c.835-497G>T	coding	Pathogenic
5	71455991	T	G	T71455991G	BDP1	NM_018429.3(BDP1):c.114T>G:p.Asp38Glu	coding	Benign
5	71458740	C	T	C71458740T	BDP1	NM_018429.3(BDP1):c.374C>T:p.Ala125Val	coding	Benign
5	71502714	A	G	A71502714G	BDP1	NM_018429.3(BDP1):c.2164A>G:p.Lys722Glu	coding	Benign
5	71504648	C	T	C71504648T	BDP1	NM_018429.3(BDP1):c.2269C>T:p.Arg757Cys	coding	Benign
5	71504711	G	A	G71504711A	BDP1	NM_018429.3(BDP1):c.2332G>A:p.Val778Met	coding	Benign
5	71510630	G	A	G71510630A	BDP1	NM_018429.3(BDP1):c.3538G>A:p.Gly1180Ser	coding	Benign
5	71510822	T	A	T71510822A	BDP1	NM_018429.3(BDP1):c.3730T>A:p.Phe1244Ile	coding	Benign
5	71510884	C	G	C71510884G	BDP1	NM_018429.3(BDP1):c.3792C>G:p.Ile1264Met	coding	Benign
5	71511131	G	A	G71511131A	BDP1	NM_018429.3(BDP1):c.4039G>A:p.Val1347Met	coding	Benign
5	71512164	G	A	G71512164A	BDP1	NM_018429.3(BDP1):c.4060-77G>A	noncoding	Benign
5	71513342	A	G	A71513342G	BDP1	NM_018429.3(BDP1):c.4405A>G:p.Lys1469Glu	coding	Benign
5	71515051	A	G	A71515051G	BDP1	NM_018429.3(BDP1):c.4578A>G:p.Ser1526=	coding	Benign/Likely_benign
5	71522303	C	A	C71522303A	BDP1	NM_018429.3(BDP1):c.5006C>A:p.Pro1669Gln	coding	Benign
5	71522323	C	G	C71522323G	BDP1	NM_018429.3(BDP1):c.5026C>G:p.Gln1676Glu	coding	Benign
5	71522328	G	C	G71522328C	BDP1	NM_018429.3(BDP1):c.5031G>C:p.Met1677Ile	coding	Benign
5	71524099	C	T	C71524099T	BDP1	NM_018429.3(BDP1):c.5548C>T:p.Arg1850Trp	coding	Benign/Likely_benign
5	71532319	T	G	T71532319G	BDP1	NM_018429.3(BDP1):c.5784T>G:p.Thr1928=	coding	Benign
5	71539065	C	A	C71539065A	BDP1	NM_018429.3(BDP1):c.5916C>A:p.Ile1972=	coding	Benign
5	71541468	A	C	A71541468C	BDP1	NM_018429.3(BDP1):c.6037A>C:p.Ile2013Leu	coding	Benign
5	71544406	C	T	C71544406T	BDP1	NM_018429.3(BDP1):c.6462C>T:p.Leu2154=	coding	Benign
5	71549573	A	G	A71549573G	BDP1	NM_018429.3(BDP1):c.6962A>G:p.Lys2321Arg	coding	Benign
5	71553194	G	T	G71553194T	BDP1	NM_018429.3(BDP1):c.7074G>T:p.Pro2358=	coding	Benign
5	71562367	C	T	C71562367T	BDP1	NM_018429.3(BDP1):c.7590C>T:p.Arg2530=	coding	Benign
5	71562441	A	G	A71562441G	BDP1	NM_018429.3(BDP1):c.7664A>G:p.Asn2555Ser	coding	Benign
5	71562515	A	G	A71562515G	BDP1	NM_018429.3(BDP1):c.7738A>G:p.Thr2580Ala	coding	Benign
5	71564883	T	G	T71564883G	BDP1	NM_018429.3(BDP1):c.7873T>G:p.Ter2625Glu	coding	Pathogenic
5	71587090	A	T	A71587090T	MCCC2	NC_000005.10:g.71587090A>T	noncoding	Benign
5	71587123	C	G	C71587123G	MCCC2	NC_000005.10:g.71587123C>G	noncoding	Benign
5	71587515	G	T	G71587515T	MCCC2	NM_022132.5(MCCC2):c.90G>T:p.Ser30=	coding	Benign
5	71592938	C	T	C71592938T	MCCC2	NM_022132.5(MCCC2):c.142C>T:p.Gln48Ter	coding	Pathogenic
5	71592971	C	T	C71592971T	MCCC2	NM_022132.5(MCCC2):c.175C>T:p.Arg59Ter	coding	Pathogenic
5	71592977	G	T	G71592977T	MCCC2	NM_022132.5(MCCC2):c.181G>T:p.Glu61Ter	coding	Pathogenic
5	71596297	C	T	C71596297T	MCCC2	NM_022132.5(MCCC2):c.214C>T:p.Arg72Ter	coding	Pathogenic
5	71599652	G	A	G71599652A	MCCC2	NM_022132.5(MCCC2):c.282-7G>A	noncoding	Benign/Likely_benign
5	71599672	G	C	G71599672C	MCCC2	NM_022132.5(MCCC2):c.295G>C:p.Glu99Gln	coding	Pathogenic
5	71599757	C	G	C71599757G	MCCC2	NM_022132.5(MCCC2):c.380C>G:p.Ser127Ter	coding	Pathogenic
5	71602572	G	C	G71602572C	MCCC2	NM_022132.5(MCCC2):c.450G>C:p.Val150=	coding	Benign
5	71602585	C	T	C71602585T	MCCC2	NM_022132.5(MCCC2):c.463C>T:p.Arg155Trp	coding	Pathogenic/Likely_pathogenic
5	71602586	G	A	G71602586A	MCCC2	NM_022132.5(MCCC2):c.464G>A:p.Arg155Gln	coding	Pathogenic
5	71604355	G	A	G71604355A	MCCC2	NM_022132.5(MCCC2):c.512-1G>A	noncoding	Pathogenic
5	71604382	C	T	C71604382T	MCCC2	NM_022132.5(MCCC2):c.538C>T:p.Arg180Ter	coding	Pathogenic
5	71604406	C	T	C71604406T	MCCC2	NM_022132.5(MCCC2):c.562C>T:p.Arg188Ter	coding	Pathogenic
5	71604413	A	G	A71604413G	MCCC2	NM_022132.5(MCCC2):c.569A>G:p.His190Arg	coding	Pathogenic
5	71626703	A	G	A71626703G	MCCC2	NM_022132.5(MCCC2):c.688A>G:p.Asn230Asp	coding	Pathogenic
5	71626789	G	A	G71626789A	MCCC2	NM_022132.5(MCCC2):c.738+36G>A	noncoding	Benign
5	71631859	C	T	C71631859T	MCCC2	NM_022132.5(MCCC2):c.739-262C>T	noncoding	Benign
5	71632096	C	T	C71632096T	MCCC2	NM_022132.5(MCCC2):c.739-25C>T	noncoding	Benign
5	71634682	T	C	T71634682C	MCCC2	NM_022132.5(MCCC2):c.804-261T>C	noncoding	Benign
5	71635139	A	G	A71635139G	MCCC2	NM_022132.5(MCCC2):c.904-12A>G	noncoding	Benign
5	71635160	G	T	G71635160T	MCCC2	NM_022132.5(MCCC2):c.913G>T:p.Glu305Ter	coding	Pathogenic
5	71635176	C	G	C71635176G	MCCC2	NM_022132.5(MCCC2):c.929C>G:p.Pro310Arg	coding	Pathogenic
5	71635216	T	C	T71635216C	MCCC2	NM_022132.5(MCCC2):c.969T>C:p.Ala323=	coding	Benign/Likely_benign
5	71635241	C	T	C71635241T	MCCC2	NM_022132.5(MCCC2):c.994C>T:p.Arg332Ter	coding	Pathogenic
5	71635285	T	G	T71635285G	MCCC2	NM_022132.5(MCCC2):c.999+39T>G	noncoding	Benign
5	71640816	C	G	C71640816G	MCCC2	NM_022132.5(MCCC2):c.1000-187C>G	noncoding	Benign
5	71641018	G	A	G71641018A	MCCC2	NM_022132.5(MCCC2):c.1015G>A:p.Val339Met	coding	Pathogenic/Likely_pathogenic
5	71641067	T	A	T71641067A	MCCC2	NM_022132.5(MCCC2):c.1064T>A:p.Leu355Ter	coding	Pathogenic
5	71641068	A	T	A71641068T	MCCC2	NM_022132.5(MCCC2):c.1065A>T:p.Leu355Phe	coding	Pathogenic/Likely_pathogenic
5	71643610	G	A	G71643610A	MCCC2	NM_022132.5(MCCC2):c.1073-209G>A	noncoding	Benign
5	71643827	C	T	C71643827T	MCCC2	NM_022132.5(MCCC2):c.1081C>T:p.Arg361Ter	coding	Pathogenic
5	71644072	C	T	C71644072T	MCCC2	NM_022132.5(MCCC2):c.1149+177C>T	noncoding	Benign
5	71644074	C	T	C71644074T	MCCC2	NM_022132.5(MCCC2):c.1149+179C>T	noncoding	Benign
5	71646279	T	A	T71646279A	MCCC2	NM_022132.5(MCCC2):c.1216+2T>A	noncoding	Pathogenic
5	71649248	A	G	A71649248G	MCCC2	NM_022132.5(MCCC2):c.1368A>G:p.Ala456=	coding	Benign
5	71652436	C	T	C71652436T	MCCC2	NM_022132.5(MCCC2):c.1489-233C>T	noncoding	Benign
5	71652749	C	T	C71652749T	MCCC2	NM_022132.5(MCCC2):c.1569C>T:p.Ser523=	coding	Benign/Likely_benign
5	71652791	C	G	C71652791G	MCCC2	NM_022132.5(MCCC2):c.1574+37C>G	noncoding	Benign/Likely_benign
5	71656746	A	G	A71656746G	MCCC2	NM_022132.5(MCCC2):c.1578A>G:p.Val526=	coding	Benign
5	71657107	C	T	C71657107T	MCCC2	NM_022132.5(MCCC2):c.*247C>T	noncoding	Benign
5	71658058	C	T	C71658058T	MCCC2	NM_022132.5(MCCC2):c.*1198C>T	noncoding	Benign
5	71658241	A	C	A71658241C	MCCC2	NM_022132.5(MCCC2):c.*1381A>C	noncoding	Benign
5	71658326	T	C	T71658326C	MCCC2	NM_022132.5(MCCC2):c.*1466T>C	noncoding	Benign
5	71658433	C	G	C71658433G	MCCC2	NM_022132.5(MCCC2):c.*1573C>G	noncoding	Benign
5	72107627	C	T	C72107627T	MAP1B	NM_005909.5(MAP1B):c.96C>T:p.Phe32=	coding	Benign
5	72183772	G	A	G72183772A	MAP1B	NM_005909.5(MAP1B):c.316G>A:p.Val106Ile	coding	Benign
5	72193868	C	T	C72193868T	MAP1B	NM_005909.5(MAP1B):c.513C>T:p.Ile171=	coding	Benign
5	72193976	A	G	A72193976G	MAP1B	NM_005909.5(MAP1B):c.621A>G:p.Gln207=	coding	Benign
5	72194262	C	T	C72194262T	MAP1B	NM_005909.5(MAP1B):c.907C>T:p.Arg303Ter	coding	Pathogenic
5	72194949	C	T	C72194949T	MAP1B	NM_005909.5(MAP1B):c.1594C>T:p.Gln532Ter	coding	Pathogenic/Likely_pathogenic
5	72195134	A	G	A72195134G	MAP1B	NM_005909.5(MAP1B):c.1779A>G:p.Pro593=	coding	Benign
5	72195368	G	A	G72195368A	MAP1B	NM_005909.5(MAP1B):c.2013G>A:p.Lys671=	coding	Benign
5	72195390	G	T	G72195390T	MAP1B	NM_005909.5(MAP1B):c.2035G>T:p.Glu679Ter	coding	Pathogenic
5	72195484	A	G	A72195484G	MAP1B	NM_005909.5(MAP1B):c.2129A>G:p.Lys710Arg	coding	Benign
5	72195674	C	T	C72195674T	MAP1B	NM_005909.5(MAP1B):c.2319C>T:p.Ala773=	coding	Benign
5	72195742	C	T	C72195742T	MAP1B	NM_005909.5(MAP1B):c.2387C>T:p.Ala796Val	coding	Benign
5	72195961	A	G	A72195961G	MAP1B	NM_005909.5(MAP1B):c.2606A>G:p.Glu869Gly	coding	Benign
5	72195974	C	T	C72195974T	MAP1B	NM_005909.5(MAP1B):c.2619C>T:p.Val873=	coding	Benign
5	72195983	C	T	C72195983T	MAP1B	NM_005909.5(MAP1B):c.2628C>T:p.Tyr876=	coding	Benign
5	72196037	G	A	G72196037A	MAP1B	NM_005909.5(MAP1B):c.2682G>A:p.Glu894=	coding	Benign
5	72196082	T	C	T72196082C	MAP1B	NM_005909.5(MAP1B):c.2727T>C:p.Pro909=	coding	Benign
5	72196238	C	T	C72196238T	MAP1B	NM_005909.5(MAP1B):c.2883C>T:p.His961=	coding	Benign
5	72196239	G	A	G72196239A	MAP1B	NM_005909.5(MAP1B):c.2884G>A:p.Val962Ile	coding	Benign
5	72196355	C	T	C72196355T	MAP1B	NM_005909.5(MAP1B):c.3000C>T:p.Ala1000=	coding	Benign
5	72196652	C	T	C72196652T	MAP1B	NM_005909.5(MAP1B):c.3297C>T:p.Thr1099=	coding	Benign
5	72197165	C	A	C72197165A	MAP1B	NM_005909.5(MAP1B):c.3810C>A:p.Thr1270=	coding	Benign
5	72197242	C	T	C72197242T	MAP1B	NM_005909.5(MAP1B):c.3887C>T:p.Pro1296Leu	coding	Benign
5	72198257	C	T	C72198257T	MAP1B	NM_005909.5(MAP1B):c.4902C>T:p.Pro1634=	coding	Benign
5	72198548	C	A	C72198548A	MAP1B	NM_005909.5(MAP1B):c.5193C>A:p.Ser1731=	coding	Benign
5	72198723	C	T	C72198723T	MAP1B	NM_005909.5(MAP1B):c.5368C>T:p.Arg1790Ter	coding	Pathogenic
5	72199517	A	C	A72199517C	MAP1B	NM_005909.5(MAP1B):c.6162A>C:p.Ala2054=	coding	Benign
5	72199901	C	T	C72199901T	MAP1B	NM_005909.5(MAP1B):c.6546C>T:p.Asp2182=	coding	Benign
5	72223817	T	C	T72223817C	MRPS27	NM_015084.3(MRPS27):c.871A>G:p.Thr291Ala	coding	Benign
5	72223848	G	A	G72223848A	MRPS27	NM_015084.3(MRPS27):c.840C>T:p.Leu280=	coding	Benign
5	73037183	A	G	A73037183G	FCHO2	NM_138782.3(FCHO2):c.882A>G:p.Gly294=	coding	Benign
5	73087644	G	A	G73087644A	FCHO2	NM_138782.3(FCHO2):c.2301G>A:p.Thr767=	coding	Benign
5	73123832	A	G	A73123832G	TMEM171	NM_173490.8(TMEM171):c.459A>G:p.Ser153=	coding	Benign
5	73752994	G	A	G73752994A	ARHGEF28	NM_001080479.2(ARHGEF28):c.267G>A:p.Val89=	coding	Benign
5	73753042	G	T	G73753042T	ARHGEF28	NM_001080479.2(ARHGEF28):c.315G>T:p.Thr105=	coding	Benign/Likely_benign
5	73753111	A	G	A73753111G	ARHGEF28	NM_001080479.2(ARHGEF28):c.384A>G:p.Ala128=	coding	Benign
5	73776529	T	C	T73776529C	ARHGEF28	NM_001080479.2(ARHGEF28):c.673T>C:p.Trp225Arg	coding	Benign
5	73776679	A	C	A73776679C	ARHGEF28	NM_001080479.2(ARHGEF28):c.823A>C:p.Arg275=	coding	Benign
5	73780686	C	A	C73780686A	ARHGEF28	NM_001080479.2(ARHGEF28):c.851C>A:p.Pro284Gln	coding	Benign
5	73794424	C	T	C73794424T	ARHGEF28	NM_001080479.2(ARHGEF28):c.933C>T:p.Ser311=	coding	Benign
5	73794436	T	C	T73794436C	ARHGEF28	NM_001080479.2(ARHGEF28):c.945T>C:p.Ala315=	coding	Benign
5	73794442	G	A	G73794442A	ARHGEF28	NM_001080479.2(ARHGEF28):c.951G>A:p.Lys317=	coding	Benign
5	73795324	C	T	C73795324T	ARHGEF28	NM_001080479.2(ARHGEF28):c.964-7C>T	noncoding	Benign
5	73795331	C	T	C73795331T	ARHGEF28	NM_001080479.2(ARHGEF28):c.964C>T:p.Arg322Cys	coding	Benign
5	73795403	C	T	C73795403T	ARHGEF28	NM_001080479.2(ARHGEF28):c.1024+12C>T	noncoding	Benign
5	73846471	C	T	C73846471T	ARHGEF28	NM_001080479.2(ARHGEF28):c.1631C>T:p.Ser544Leu	coding	Benign
5	73849020	A	G	A73849020G	ARHGEF28	NM_001080479.2(ARHGEF28):c.1680A>G:p.Ser560=	coding	Benign
5	73852656	G	A	G73852656A	ARHGEF28	NM_001080479.2(ARHGEF28):c.1754G>A:p.Arg585Lys	coding	Benign
5	73857727	G	A	G73857727A	ARHGEF28	NM_001080479.2(ARHGEF28):c.1862G>A:p.Arg621Gln	coding	Benign
5	73858124	A	G	A73858124G	ARHGEF28	NM_001080479.2(ARHGEF28):c.1952A>G:p.Asn651Ser	coding	Benign
5	73868006	C	T	C73868006T	ARHGEF28	NM_001080479.2(ARHGEF28):c.2283C>T:p.Gly761=	coding	Benign
5	73868140	C	A	C73868140A	ARHGEF28	NM_001080479.2(ARHGEF28):c.2338C>A:p.His780Asn	coding	Benign
5	73883847	C	T	C73883847T	ARHGEF28	NM_001080479.2(ARHGEF28):c.3018C>T:p.Tyr1006=	coding	Benign
5	73886088	T	C	T73886088C	ARHGEF28	NM_001080479.2(ARHGEF28):c.3294T>C:p.Ala1098=	coding	Benign
5	73887643	A	G	A73887643G	ARHGEF28	NM_001080479.2(ARHGEF28):c.3351A>G:p.Leu1117=	coding	Benign
5	73894487	C	T	C73894487T	ARHGEF28	NM_001080479.2(ARHGEF28):c.3753C>T:p.Asp1251=	coding	Benign
5	73901254	C	A	C73901254A	ARHGEF28	NM_001080479.2(ARHGEF28):c.4044C>A:p.Thr1348=	coding	Benign
5	73909608	G	T	G73909608T	ARHGEF28	NM_001080479.2(ARHGEF28):c.4358G>T:p.Arg1453Leu	coding	Benign
5	73909638	G	A	G73909638A	ARHGEF28	NM_001080479.2(ARHGEF28):c.4388G>A:p.Arg1463Gln	coding	Benign
5	73909872	C	G	C73909872G	ARHGEF28	NM_001080479.2(ARHGEF28):c.4622C>G:p.Ala1541Gly	coding	Benign
5	73909892	C	T	C73909892T	ARHGEF28	NM_001080479.2(ARHGEF28):c.4642C>T:p.Pro1548Ser	coding	Benign
5	73911463	C	G	C73911463G	ARHGEF28	NM_001080479.2(ARHGEF28):c.4836C>G:p.Leu1612=	coding	Benign
5	73911514	C	G	C73911514G	ARHGEF28	NM_001080479.2(ARHGEF28):c.4887C>G:p.Ala1629=	coding	Benign
5	73911547	T	A	T73911547A	ARHGEF28	NM_001080479.2(ARHGEF28):c.4920T>A:p.His1640Gln	coding	Benign
5	73923129	C	T	C73923129T	ARHGEF28	NM_001080479.2(ARHGEF28):c.4991C>T:p.Pro1664Leu	coding	Benign
5	73940855	T	C	T73940855C	ARHGEF28	NM_001080479.2(ARHGEF28):c.5038T>C:p.Ser1680Pro	coding	Benign
5	74685135	C	T	C74685135T	HEXB	NM_001292004.2(HEXB):c.-376-4193C>T	noncoding	Benign
5	74685354	C	T	C74685354T	HEXB	NM_000521.4(HEXB):c.94C>T:p.Gln32Ter	coding	Pathogenic
5	74685406	C	A	C74685406A	HEXB	NM_000521.4(HEXB):c.146C>A:p.Ser49Ter	coding	Pathogenic/Likely_pathogenic
5	74685430	G	A	G74685430A	HEXB	NM_000521.4(HEXB):c.170G>A:p.Trp57Ter	coding	Pathogenic
5	74685445	T	C	T74685445C	HEXB	NM_000521.4(HEXB):c.185T>C:p.Leu62Ser	coding	Benign
5	74685536	C	T	C74685536T	HEXB	NM_000521.4(HEXB):c.276C>T:p.Thr92=	coding	Benign
5	74685558	C	T	C74685558T	HEXB	NM_000521.4(HEXB):c.298C>T:p.Arg100Ter	coding	Pathogenic
5	74685559	G	C	G74685559C	HEXB	NM_000521.4(HEXB):c.299G>C:p.Arg100Pro	coding	Pathogenic
5	74685837	G	A	G74685837A	HEXB	NM_000521.4(HEXB):c.299+278G>A	noncoding	Benign
5	74689282	T	A	T74689282A	HEXB	NM_000521.4(HEXB):c.300-46T>A	noncoding	Benign
5	74689296	C	T	C74689296T	HEXB	NM_000521.4(HEXB):c.300-32C>T	noncoding	Benign
5	74689361	G	A	G74689361A	HEXB	NM_000521.4(HEXB):c.333G>A:p.Trp111Ter	coding	Pathogenic
5	74689390	A	G	A74689390G	HEXB	NM_000521.4(HEXB):c.362A>G:p.Lys121Arg	coding	Benign
5	74689474	G	A	G74689474A	HEXB	NM_000521.4(HEXB):c.445+1G>A	coding	Pathogenic
5	74689709	T	C	T74689709C	HEXB	NM_000521.4(HEXB):c.445+236T>C	noncoding	Benign
5	74693642	C	A	C74693642A	HEXB	NM_000521.4(HEXB):c.449C>A:p.Thr150Asn	coding	Benign
5	74693701	C	T	C74693701T	HEXB	NM_000521.4(HEXB):c.508C>T:p.Arg170Ter	coding	Pathogenic
5	74696733	T	G	T74696733G	HEXB	NM_000521.4(HEXB):c.552T>G:p.Tyr184Ter	coding	Pathogenic
5	74696784	G	A	G74696784A	HEXB	NM_000521.4(HEXB):c.558+45G>A	noncoding	Benign
5	74697056	A	G	A74697056G	HEXB	NM_000521.4(HEXB):c.619A>G:p.Ile207Val	coding	Benign
5	74713502	A	G	A74713502G	HEXB	NM_000521.4(HEXB):c.772-4A>G	noncoding	Benign
5	74713573	T	G	T74713573G	HEXB	NM_000521.4(HEXB):c.839T>G:p.Leu280Ter	coding	Pathogenic
5	74713575	C	T	C74713575T	HEXB	NM_000521.4(HEXB):c.841C>T:p.Arg281Ter	coding	Pathogenic
5	74713584	C	T	C74713584T	HEXB	NM_000521.4(HEXB):c.850C>T:p.Arg284Ter	coding	Pathogenic
5	74715659	T	C	T74715659C	HEXB	NM_000521.4(HEXB):c.1051T>C:p.Leu351=	coding	Benign/Likely_benign
5	74715695	G	A	G74715695A	HEXB	NM_000521.4(HEXB):c.1082+5G>A	noncoding	Pathogenic/Likely_pathogenic
5	74715695	G	C	G74715695C	HEXB	NM_000521.4(HEXB):c.1082+5G>C	noncoding	Pathogenic
5	74715716	T	A	T74715716A	HEXB	NM_000521.4(HEXB):c.1082+26T>A	noncoding	Benign
5	74718791	T	C	T74718791C	HEXB	NM_000521.4(HEXB):c.1243-6T>C	noncoding	Benign
5	74718795	A	G	A74718795G	HEXB	NM_000521.4(HEXB):c.1243-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	74718804	C	T	C74718804T	HEXB	NM_000521.4(HEXB):c.1250C>T:p.Pro417Leu	coding	Pathogenic
5	74718812	A	G	A74718812G	HEXB	NM_000521.4(HEXB):c.1258A>G:p.Ile420Val	coding	Benign
5	74718943	C	G	C74718943G	HEXB	NM_000521.4(HEXB):c.1389C>G:p.Tyr463Ter	coding	Pathogenic/Likely_pathogenic
5	74719200	T	C	T74719200C	HEXB	NM_000521.4(HEXB):c.1417+229T>C	noncoding	Benign
5	74720491	A	G	A74720491G	HEXB	NM_000521.4(HEXB):c.1481A>G:p.Asp494Gly	coding	Pathogenic
5	74720617	G	A	G74720617A	HEXB	NM_000521.4(HEXB):c.1509-26G>A	noncoding	Pathogenic/Likely_pathogenic
5	74720648	G	A	G74720648A	HEXB	NM_000521.4(HEXB):c.1514G>A:p.Arg505Gln	coding	Pathogenic/Likely_pathogenic
5	74720672	T	C	T74720672C	HEXB	NM_000521.4(HEXB):c.1538T>C:p.Leu513Pro	coding	Pathogenic
5	74720731	C	T	C74720731T	HEXB	NM_000521.4(HEXB):c.1597C>T:p.Arg533Cys	coding	Pathogenic
5	74721104	C	A	C74721104A	HEXB	NM_000521.4(HEXB):c.1614-14C>A	noncoding	Benign/Likely_benign
5	74721674	C	T	C74721674T	GFM2	NM_032380.5(GFM2):c.2321G>A:p.Arg774Gln	coding	Benign
5	74721765	G	C	G74721765C	GFM2	NM_032380.5(GFM2):c.2230C>G:p.Arg744Gly	coding	Benign
5	74722562	C	T	C74722562T	GFM2	NM_032380.5(GFM2):c.2029-1G>A	coding	Pathogenic
5	74725930	G	A	G74725930A	GFM2	NM_032380.5(GFM2):c.1912+11C>T	noncoding	Benign
5	74725973	A	G	A74725973G	GFM2	NM_032380.5(GFM2):c.1880T>C:p.Ile627Thr	coding	Benign
5	74730246	G	A	G74730246A	GFM2	NM_032380.5(GFM2):c.1726+14C>T	noncoding	Benign
5	74730268	C	T	C74730268T	GFM2	NM_032380.5(GFM2):c.1718G>A:p.Arg573His	coding	Benign
5	74738119	C	T	C74738119T	GFM2	NM_032380.5(GFM2):c.1320+199G>A	noncoding	Benign
5	74738420	G	A	G74738420A	GFM2	NM_032380.5(GFM2):c.1221-3C>T	noncoding	Benign
5	74738534	C	T	C74738534T	GFM2	NM_032380.5(GFM2):c.1188G>A:p.Gln396=	coding	Benign
5	74740423	A	G	A74740423G	GFM2	NM_032380.5(GFM2):c.931-286T>C	noncoding	Benign
5	74741544	C	T	C74741544T	GFM2	NM_032380.5(GFM2):c.915G>A:p.Leu305=	coding	Benign
5	74741561	T	A	T74741561A	GFM2	NM_032380.5(GFM2):c.898A>T:p.Ser300Cys	coding	Benign
5	74750639	C	T	C74750639T	GFM2	NM_032380.5(GFM2):c.459G>A:p.Glu153=	coding	Benign
5	74758770	A	G	A74758770G	GFM2	NM_032380.5(GFM2):c.304+79T>C	noncoding	Benign
5	74758878	T	G	T74758878G	GFM2	NM_032380.5(GFM2):c.275A>C:p.Tyr92Ser	coding	Pathogenic
5	74759365	T	C	T74759365C	GFM2	NM_032380.5(GFM2):c.206+4A>G	noncoding	Pathogenic
5	74759384	T	C	T74759384C	GFM2	NM_032380.5(GFM2):c.191A>G:p.Asn64Ser	coding	Benign
5	74759397	G	T	G74759397T	GFM2	NM_032380.5(GFM2):c.178C>A:p.His60Asn	coding	Benign
5	74763700	T	C	T74763700C	GFM2	NM_032380.5(GFM2):c.43A>G:p.Ile15Val	coding	Benign
5	75104641	C	T	C75104641T	ANKRD31	NM_001372053.1(ANKRD31):c.4918G>A:p.Gly1640Ser	coding	Benign
5	75116663	C	T	C75116663T	ANKRD31	NM_001372053.1(ANKRD31):c.4058G>A:p.Arg1353Gln	coding	Benign
5	75196073	T	A	T75196073A	ANKRD31	NM_001372053.1(ANKRD31):c.575A>T:p.Asn192Ile	coding	Benign
5	75379421	T	C	T75379421C	CERT1	NM_001130105.1(CERT1):c.2184A>G:p.Arg728=	coding	Benign
5	75382083	G	A	G75382083A	CERT1	NM_001130105.1(CERT1):c.1873-6C>T	noncoding	Benign
5	75389584	G	A	G75389584A	CERT1	NM_001130105.1(CERT1):c.1668+8C>T	noncoding	Benign
5	75389649	T	C	T75389649C	CERT1	NM_001130105.1(CERT1):c.1611A>G:p.Leu537=	coding	Benign
5	75400211	G	T	G75400211T	CERT1	NM_001130105.1(CERT1):c.1488C>A:p.Val496=	coding	Benign
5	75426377	T	C	T75426377C	CERT1	NM_001130105.1(CERT1):c.834A>G:p.Ser278=	coding	Benign
5	75426433	A	G	A75426433G	CERT1	NM_001130105.1(CERT1):c.778T>C:p.Ser260Pro	coding	Pathogenic
5	75511291	C	T	C75511291T	CERT1	NM_001130105.1(CERT1):c.301G>A:p.Asp101Asn	coding	Benign/Likely_benign
5	75511321	C	A	C75511321A	CERT1	NM_001130105.1(CERT1):c.271G>T:p.Glu91Ter	coding	Pathogenic
5	75511375	G	C	G75511375C	CERT1	NM_001130105.1(CERT1):c.217C>G:p.Arg73Gly	coding	Benign
5	75573790	G	A	G75573790A	POLK	NM_016218.3(POLK):c.461G>A:p.Gly154Glu	coding	Pathogenic
5	75573793	T	C	T75573793C	POLK	NM_016218.3(POLK):c.464T>C:p.Phe155Ser	coding	Pathogenic
5	75573841	T	C	T75573841C	POLK	NM_016218.3(POLK):c.512T>C:p.Phe171Ser	coding	Pathogenic
5	75587055	A	G	A75587055G	POLK	NM_016218.3(POLK):c.1256A>G:p.Glu419Gly	coding	Pathogenic
5	75590368	G	A	G75590368A	POLK	NM_016218.3(POLK):c.1284G>A:p.Ala428=	coding	Pathogenic
5	75590373	A	G	A75590373G	POLK	NM_016218.3(POLK):c.1289A>G:p.Glu430Gly	coding	Pathogenic
5	75590408	C	T	C75590408T	POLK	NM_016218.3(POLK):c.1324C>T:p.Leu442Phe	coding	Pathogenic
5	75590425	G	A	G75590425A	POLK	NM_016218.3(POLK):c.1341G>A:p.Gln447=	coding	Pathogenic
5	75590429	G	A	G75590429A	POLK	NM_016218.3(POLK):c.1345G>A:p.Glu449Lys	coding	Pathogenic
5	75593902	A	G	A75593902G	POLK	NM_016218.3(POLK):c.1381A>G:p.Lys461Glu	coding	Pathogenic
5	75593981	T	C	T75593981C	POLK	NM_016218.3(POLK):c.1460T>C:p.Ile487Thr	coding	Pathogenic
5	75596275	A	T	A75596275T	POLK	NM_016218.3(POLK):c.1582A>T:p.Ser528Cys	coding	Pathogenic
5	75596345	A	T	A75596345T	POLK	NM_016218.3(POLK):c.1652A>T:p.Asp551Val	coding	Pathogenic
5	75596385	G	A	G75596385A	POLK	NM_016218.3(POLK):c.1692G>A:p.Lys564=	coding	Pathogenic
5	75596434	G	A	G75596434A	POLK	NM_016218.3(POLK):c.1741G>A:p.Asp581Asn	coding	Pathogenic
5	75596726	C	T	C75596726T	POLK	NM_016218.3(POLK):c.2033C>T:p.Ser678Phe	coding	Pathogenic
5	75596885	T	A	T75596885A	POLK	NM_016218.3(POLK):c.2192T>A:p.Leu731His	coding	Pathogenic
5	75596952	C	T	C75596952T	POLK	NM_016218.3(POLK):c.2259C>T:p.Asn753=	coding	Benign
5	75598003	T	G	T75598003G	POLK	NM_016218.3(POLK):c.2598T>G:p.Asp866Glu	coding	Pathogenic
5	75598084	T	C	T75598084C	POLK	NM_016218.3(POLK):c.*66T>C	noncoding	Pathogenic
5	75611640	C	G	C75611640G	ANKDD1B	NM_001276713.1(ANKDD1B):c.6C>G:p.Asp2Glu	coding	Benign
5	75611813	C	A	C75611813A	ANKDD1B	NM_001276713.1(ANKDD1B):c.179C>A:p.Ala60Asp	coding	Benign
5	75635818	A	G	A75635818G	ANKDD1B	NM_001276713.1(ANKDD1B):c.734A>G:p.His245Arg	coding	Benign
5	75653218	T	C	T75653218C	ANKDD1B	NM_001276713.1(ANKDD1B):c.875T>C:p.Val292Ala	coding	Benign
5	75656085	C	G	C75656085G	ANKDD1B	NM_001276713.1(ANKDD1B):c.954C>G:p.Asn318Lys	coding	Benign
5	75666988	G	A	G75666988A	ANKDD1B	NM_001276713.1(ANKDD1B):c.1388G>A:p.Trp463Ter	coding	Benign
5	75669267	G	A	G75669267A	ANKDD1B	NM_001276713.1(ANKDD1B):c.1409G>A:p.Arg470His	coding	Benign
5	75669341	C	G	C75669341G	ANKDD1B	NM_001276713.1(ANKDD1B):c.1483C>G:p.Leu495Val	coding	Benign
5	75702650	A	G	A75702650G	POC5	NM_001099271.2(POC5):c.468T>C:p.Leu156=	coding	Benign
5	75712845	T	G	T75712845G	POC5	NM_001099271.2(POC5):c.84+9A>C	noncoding	Benign
5	76132245	C	T	C76132245T	SV2C	NM_014979.4(SV2C):c.495C>T:p.Asp165=	coding	Benign
5	76132339	G	A	G76132339A	SV2C	NM_014979.4(SV2C):c.580+9G>A	noncoding	Benign
5	76300793	G	A	G76300793A	SV2C	NM_014979.4(SV2C):c.1701G>A:p.Thr567=	coding	Benign
5	76403579	C	A	C76403579A	IQGAP2	NM_006633.4(IQGAP2):c.34C>A:p.Pro12Thr	coding	Benign
5	76590467	G	A	G76590467A	IQGAP2	NM_006633.4(IQGAP2):c.700G>A:p.Val234Ile	coding	Benign
5	76611098	C	A	C76611098A	IQGAP2	NM_006633.4(IQGAP2):c.1436C>A:p.Pro479His	coding	Benign
5	76611132	T	C	T76611132C	IQGAP2	NM_006633.4(IQGAP2):c.1470T>C:p.His490=	coding	Benign
5	76640948	G	C	G76640948C	IQGAP2	NM_006633.4(IQGAP2):c.1939G>C:p.Val647Leu	coding	Benign
5	76671897	C	T	C76671897T	IQGAP2	NM_006633.4(IQGAP2):c.2982C>T:p.Asp994=	coding	Benign
5	76673535	G	T	G76673535T	IQGAP2	NM_006633.4(IQGAP2):c.3155G>T:p.Arg1052Ile	coding	Benign
5	76673976	A	G	A76673976G	IQGAP2	NM_006633.4(IQGAP2):c.3234A>G:p.Lys1078=	coding	Benign
5	76683183	G	A	G76683183A	IQGAP2	NM_006633.4(IQGAP2):c.3729G>A:p.Ser1243=	coding	Benign
5	76695595	C	T	C76695595T	IQGAP2	NM_006633.4(IQGAP2):c.4135C>T:p.Arg1379Trp	coding	Benign
5	76732339	A	G	A76732339G	F2R	NM_001992.5(F2R):c.114A>G:p.Leu38=	coding	Benign
5	76732741	T	G	T76732741G	F2R	NM_001992.5(F2R):c.516T>G:p.Ser172=	coding	Benign
5	76732963	G	A	G76732963A	F2R	NM_001992.5(F2R):c.738G>A:p.Val246=	coding	Benign
5	76733367	A	G	A76733367G	F2R	NM_001992.5(F2R):c.1142A>G:p.Tyr381Cys	coding	Benign
5	76819186	C	A	C76819186A	F2RL1	NM_005242.6(F2RL1):c.4C>A:p.Arg2=	coding	Benign
5	76953678	G	A	G76953678A	CRHBP	NM_001882.4(CRHBP):c.159G>A:p.Pro53=	coding	Benign
5	76954120	C	G	C76954120G	CRHBP	NM_001882.4(CRHBP):c.267C>G:p.Pro89=	coding	Benign
5	77034526	T	C	T77034526C	AGGF1	NM_018046.5(AGGF1):c.313+6T>C	noncoding	Benign
5	77035594	G	A	G77035594A	AGGF1	NM_018046.5(AGGF1):c.367G>A:p.Glu123Lys	coding	Benign
5	77046622	T	C	T77046622C	AGGF1	NM_018046.5(AGGF1):c.1146T>C:p.Tyr382=	coding	Benign
5	77061699	A	G	A77061699G	AGGF1	NM_018046.5(AGGF1):c.1845-4A>G	noncoding	Benign
5	77063223	A	T	A77063223T	AGGF1	NM_018046.5(AGGF1):c.2116A>T:p.Met706Leu	coding	Benign
5	77210903	G	T	G77210903T	PDE8B	NM_003719.4(PDE8B):c.-23G>T	noncoding	Benign
5	77210988	C	T	C77210988T	PDE8B	NM_003719.4(PDE8B):c.63C>T:p.Asp21=	coding	Benign
5	77211229	G	T	G77211229T	PDE8B	NM_001349750.2(PDE8B):c.36+30743G>T	coding	Pathogenic
5	77312016	G	A	G77312016A	PDE8B	NM_003719.4(PDE8B):c.362G>A:p.Arg121His	coding	Benign
5	77325532	G	T	G77325532T	PDE8B	NM_003719.4(PDE8B):c.400-7G>T	noncoding	Benign
5	77325574	C	T	C77325574T	PDE8B	NM_003719.4(PDE8B):c.435C>T:p.Ser145=	coding	Benign
5	77325691	T	C	T77325691C	PDE8B	NM_003719.4(PDE8B):c.552T>C:p.His184=	coding	Benign
5	77328991	A	G	A77328991G	PDE8B	NM_003719.4(PDE8B):c.591-7A>G	noncoding	Benign
5	77329000	C	T	C77329000T	PDE8B	NM_003719.5(PDE8B):c.593C>T:p.Ser198Leu	coding	Benign
5	77331423	G	A	G77331423A	PDE8B	NM_003719.4(PDE8B):c.672G>A:p.Ala224=	coding	Benign/Likely_benign
5	77344913	C	T	C77344913T	PDE8B	NM_003719.4(PDE8B):c.858C>T:p.Ser286=	coding	Benign
5	77349456	A	C	A77349456C	PDE8B	NM_001029851.3(PDE8B):c.876+4525A>C	coding	Pathogenic
5	77351103	G	A	G77351103A	PDE8B	NM_003719.5(PDE8B):c.1056G>A:p.Gly352=	coding	Benign
5	77353391	T	C	T77353391C	PDE8B	NM_003719.4(PDE8B):c.1152T>C:p.Thr384=	coding	Benign
5	77404776	A	G	A77404776G	PDE8B	NM_003719.4(PDE8B):c.1267A>G:p.Ile423Val	coding	Benign
5	77407373	C	T	C77407373T	PDE8B	NM_003719.5(PDE8B):c.1289-8C>T	noncoding	Benign
5	77407391	G	A	G77407391A	PDE8B	NM_003719.4(PDE8B):c.1299G>A:p.Leu433=	coding	Benign/Likely_benign
5	77407401	C	T	C77407401T	PDE8B	NM_003719.4(PDE8B):c.1309C>T:p.Arg437Cys	coding	Benign
5	77408888	G	A	G77408888A	PDE8B	NM_003719.5(PDE8B):c.1366-5G>A	noncoding	Benign/Likely_benign
5	77408910	T	C	T77408910C	PDE8B	NM_003719.5(PDE8B):c.1383T>C:p.Asn461=	coding	Benign
5	77411705	G	A	G77411705A	PDE8B	NM_003719.5(PDE8B):c.1560G>A:p.Glu520=	coding	Benign/Likely_benign
5	77412221	C	A	C77412221A	PDE8B	NM_003719.4(PDE8B):c.1698C>A:p.Ala566=	coding	Benign
5	77413162	A	G	A77413162G	PDE8B	NM_003719.4(PDE8B):c.1764A>G:p.Glu588=	coding	Benign
5	77418238	G	A	G77418238A	PDE8B	NM_003719.4(PDE8B):c.1921G>A:p.Asp641Asn	coding	Benign
5	77418372	G	A	G77418372A	PDE8B	NM_003719.5(PDE8B):c.2055G>A:p.Glu685=	coding	Benign
5	77419767	G	A	G77419767A	PDE8B	NM_003719.4(PDE8B):c.2130G>A:p.Arg710=	coding	Benign
5	77419782	G	A	G77419782A	PDE8B	NM_003719.4(PDE8B):c.2145G>A:p.Thr715=	coding	Benign/Likely_benign
5	77419872	G	A	G77419872A	PDE8B	NM_003719.4(PDE8B):c.2235G>A:p.Lys745=	coding	Benign/Likely_benign
5	77421833	G	A	G77421833A	PDE8B	NM_003719.4(PDE8B):c.2263G>A:p.Asp755Asn	coding	Benign
5	77421844	C	T	C77421844T	PDE8B	NM_003719.4(PDE8B):c.2274C>T:p.Cys758=	coding	Benign
5	77426518	A	G	A77426518G	PDE8B	NM_003719.4(PDE8B):c.2622A>G:p.Leu874=	coding	Benign/Likely_benign
5	77426611	C	T	C77426611T	PDE8B	NM_003719.4(PDE8B):c.*57C>T	noncoding	Benign
5	77426617	C	T	C77426617T	PDE8B	NM_003719.4(PDE8B):c.*63C>T	noncoding	Benign
5	77426618	G	A	G77426618A	PDE8B	NM_003719.4(PDE8B):c.*64G>A	noncoding	Benign
5	77426624	C	T	C77426624T	PDE8B	NM_003719.4(PDE8B):c.*70C>T	noncoding	Benign
5	77426895	C	T	C77426895T	PDE8B	NM_003719.5(PDE8B):c.*341C>T	noncoding	Benign
5	77426991	A	G	A77426991G	PDE8B	NM_003719.4(PDE8B):c.*437A>G	noncoding	Benign
5	77426993	C	T	C77426993T	PDE8B	NM_003719.4(PDE8B):c.*439C>T	noncoding	Benign
5	77427010	A	G	A77427010G	PDE8B	NM_003719.4(PDE8B):c.*456A>G	noncoding	Benign
5	77427050	A	G	A77427050G	PDE8B	NM_003719.4(PDE8B):c.*496A>G	noncoding	Benign
5	77427066	T	C	T77427066C	PDE8B	NM_003719.4(PDE8B):c.*512T>C	noncoding	Benign
5	77427070	A	G	A77427070G	PDE8B	NM_003719.4(PDE8B):c.*516A>G	noncoding	Benign
5	77427202	T	G	T77427202G	PDE8B	NM_003719.4(PDE8B):c.*648T>G	noncoding	Benign
5	77427295	A	T	A77427295T	PDE8B	NM_003719.4(PDE8B):c.*741A>T	noncoding	Benign
5	77427682	A	G	A77427682G	PDE8B	NM_003719.4(PDE8B):c.*1128A>G	noncoding	Benign
5	77427767	C	T	C77427767T	PDE8B	NM_003719.4(PDE8B):c.*1213C>T	noncoding	Benign
5	77428129	G	A	G77428129A	PDE8B	NM_003719.5(PDE8B):c.*1575G>A	noncoding	Benign
5	77428144	T	A	T77428144A	PDE8B	NM_003719.4(PDE8B):c.*1590T>A	noncoding	Benign
5	78002523	T	C	T78002523C	AP3B1	NM_003664.4(AP3B1):c.*379A>G	noncoding	Benign
5	78002795	A	T	A78002795T	AP3B1	NM_003664.4(AP3B1):c.*107T>A	noncoding	Benign
5	78002858	C	T	C78002858T	AP3B1	NM_003664.5(AP3B1):c.*44G>A	noncoding	Benign
5	78034449	G	A	G78034449A	AP3B1	NM_003664.4(AP3B1):c.2810-4C>T	noncoding	Benign
5	78039083	T	G	T78039083G	AP3B1	NM_003664.4(AP3B1):c.2769A>C:p.Lys923Asn	coding	Benign/Likely_benign
5	78039122	A	G	A78039122G	AP3B1	NM_003664.4(AP3B1):c.2730T>C:p.Thr910=	coding	Benign
5	78039150	G	C	G78039150C	AP3B1	NM_003664.4(AP3B1):c.2702C>G:p.Ser901Cys	coding	Pathogenic
5	78039267	G	A	G78039267A	AP3B1	NM_003664.4(AP3B1):c.2585C>T:p.Thr862Ile	coding	Benign/Likely_benign
5	78110280	A	T	A78110280T	AP3B1	NM_003664.4(AP3B1):c.2324T>A:p.Ile775Lys	coding	Benign
5	78113889	G	A	G78113889A	AP3B1	NM_003664.4(AP3B1):c.2112C>T:p.Gly704=	coding	Benign
5	78116187	A	G	A78116187G	AP3B1	NM_003664.5(AP3B1):c.2016T>C:p.Ala672=	coding	Benign
5	78116228	C	A	C78116228A	AP3B1	NM_003664.4(AP3B1):c.1975G>T:p.Glu659Ter	coding	Pathogenic
5	78116244	C	T	C78116244T	AP3B1	NM_003664.5(AP3B1):c.1969-10G>A	noncoding	Benign/Likely_benign
5	78128141	A	C	A78128141C	AP3B1	NM_003664.4(AP3B1):c.1857T>G:p.Leu619=	coding	Benign/Likely_benign
5	78129204	A	T	A78129204T	AP3B1	NM_003664.5(AP3B1):c.1754T>A:p.Val585Glu	coding	Benign
5	78129219	A	C	A78129219C	AP3B1	NM_003664.4(AP3B1):c.1739T>G:p.Leu580Arg	coding	Pathogenic
5	78129275	G	A	G78129275A	AP3B1	NM_003664.5(AP3B1):c.1683C>T:p.Leu561=	coding	Benign/Likely_benign
5	78141268	G	A	G78141268A	AP3B1	NM_003664.4(AP3B1):c.1525C>T:p.Arg509Ter	coding	Pathogenic
5	78156320	T	G	T78156320G	AP3B1	NM_003664.5(AP3B1):c.1411A>C:p.Met471Leu	coding	Benign
5	78156364	A	G	A78156364G	AP3B1	NM_003664.4(AP3B1):c.1367T>C:p.Ile456Thr	coding	Benign/Likely_benign
5	78156385	T	C	T78156385C	AP3B1	NM_003664.4(AP3B1):c.1364-18A>G	noncoding	Benign
5	78175677	C	G	C78175677G	AP3B1	NM_003664.4(AP3B1):c.1116G>C:p.Leu372=	coding	Benign/Likely_benign
5	78177330	A	T	A78177330T	AP3B1	NM_003664.4(AP3B1):c.1040+9T>A	noncoding	Benign
5	78177341	A	G	A78177341G	AP3B1	NM_003664.5(AP3B1):c.1038T>C:p.Asn346=	coding	Benign
5	78181545	T	A	T78181545A	AP3B1	NM_003664.4(AP3B1):c.904A>T:p.Arg302Ter	coding	Pathogenic
5	78216062	C	T	C78216062T	AP3B1	NM_003664.5(AP3B1):c.779G>A:p.Trp260Ter	coding	Pathogenic
5	78216125	C	T	C78216125T	AP3B1	NM_003664.4(AP3B1):c.716G>A:p.Trp239Ter	coding	Pathogenic
5	78216154	T	C	T78216154C	AP3B1	NM_003664.5(AP3B1):c.687A>G:p.Leu229=	coding	Benign/Likely_benign
5	78227506	G	A	G78227506A	AP3B1	NM_003664.4(AP3B1):c.402C>T:p.Ser134=	coding	Benign/Likely_benign
5	78228180	T	G	T78228180G	AP3B1	NM_003664.5(AP3B1):c.339A>C:p.Ala113=	coding	Benign/Likely_benign
5	78777216	A	C	A78777216C	ARSB	NM_000046.5(ARSB):c.*3181T>G	noncoding	Benign
5	78777422	C	A	C78777422A	ARSB	NM_000046.5(ARSB):c.*2975G>T	noncoding	Benign
5	78777538	A	G	A78777538G	ARSB	NM_000046.5(ARSB):c.*2859T>C	noncoding	Benign
5	78778375	A	C	A78778375C	ARSB	NM_000046.5(ARSB):c.*2022T>G	noncoding	Benign
5	78779095	C	A	C78779095A	ARSB	NM_000046.5(ARSB):c.*1302G>T	noncoding	Benign
5	78779140	T	G	T78779140G	ARSB	NM_000046.5(ARSB):c.*1257A>C	noncoding	Benign
5	78780195	T	C	T78780195C	ARSB	NM_000046.5(ARSB):c.*202A>G	noncoding	Benign
5	78780337	C	T	C78780337T	ARSB	NM_000046.5(ARSB):c.*60G>A	noncoding	Benign
5	78780553	T	C	T78780553C	ARSB	NM_000046.5(ARSB):c.1446A>G:p.Glu482=	coding	Benign
5	78780633	G	A	G78780633A	ARSB	NM_000046.5(ARSB):c.1366C>T:p.Gln456Ter	coding	Pathogenic
5	78780637	C	T	C78780637T	ARSB	NM_000046.5(ARSB):c.1362G>A:p.Pro454=	coding	Benign
5	78781927	C	A	C78781927A	ARSB	NM_000046.5(ARSB):c.1261G>T:p.Glu421Ter	coding	Pathogenic
5	78782006	A	G	A78782006G	ARSB	NM_000046.5(ARSB):c.1214-32T>C	noncoding	Benign
5	78839350	A	G	A78839350G	ARSB	NM_000046.5(ARSB):c.1213+6T>C	noncoding	Pathogenic
5	78839361	G	C	G78839361C	ARSB	NM_000046.5(ARSB):c.1208C>G:p.Ser403Ter	coding	Pathogenic
5	78839372	G	C	G78839372C	ARSB	NM_000046.5(ARSB):c.1197C>G:p.Phe399Leu	coding	Pathogenic/Likely_pathogenic
5	78839378	C	T	C78839378T	ARSB	NM_000046.5(ARSB):c.1191G>A:p.Pro397=	coding	Benign
5	78839418	C	T	C78839418T	ARSB	NM_000046.5(ARSB):c.1151G>A:p.Ser384Asn	coding	Benign
5	78839427	C	G	C78839427G	ARSB	NM_000046.5(ARSB):c.1143-1G>C	coding	Pathogenic
5	78839453	T	G	T78839453G	ARSB	NM_000046.5(ARSB):c.1143-27A>C	noncoding	Benign
5	78885351	G	A	G78885351A	ARSB	NM_000046.5(ARSB):c.1142+233C>T	noncoding	Benign
5	78885582	A	G	A78885582G	ARSB	NM_000046.5(ARSB):c.1142+2T>C	noncoding	Pathogenic
5	78885583	C	A	C78885583A	ARSB	NM_000046.5(ARSB):c.1142+1G>T	noncoding	Pathogenic
5	78885596	C	T	C78885596T	ARSB	NM_000046.5(ARSB):c.1130G>A:p.Trp377Ter	coding	Pathogenic/Likely_pathogenic
5	78885600	C	T	C78885600T	ARSB	NM_000046.5(ARSB):c.1126G>A:p.Val376Met	coding	Benign
5	78885654	C	T	C78885654T	ARSB	NM_000046.5(ARSB):c.1072G>A:p.Val358Met	coding	Benign
5	78885658	T	A	T78885658A	ARSB	NM_000046.5(ARSB):c.1068A>T:p.Thr356=	coding	Benign
5	78885667	C	T	C78885667T	ARSB	NM_000046.5(ARSB):c.1059G>A:p.Trp353Ter	coding	Pathogenic
5	78885690	C	A	C78885690A	ARSB	NM_000046.5(ARSB):c.1036G>T:p.Glu346Ter	coding	Pathogenic
5	78885747	G	A	G78885747A	ARSB	NM_000046.5(ARSB):c.979C>T:p.Arg327Ter	coding	Pathogenic
5	78885754	T	C	T78885754C	ARSB	NM_000046.5(ARSB):c.972A>G:p.Gly324=	coding	Benign
5	78885755	C	A	C78885755A	ARSB	NM_000046.5(ARSB):c.971G>T:p.Gly324Val	coding	Pathogenic/Likely_pathogenic
5	78885760	C	T	C78885760T	ARSB	NM_000046.5(ARSB):c.966G>A:p.Trp322Ter	coding	Pathogenic
5	78885764	A	G	A78885764G	ARSB	NM_000046.5(ARSB):c.962T>C:p.Leu321Pro	coding	Pathogenic
5	78885782	C	T	C78885782T	ARSB	NM_000046.5(ARSB):c.944G>A:p.Arg315Gln	coding	Pathogenic/Likely_pathogenic
5	78885823	G	A	G78885823A	ARSB	NM_000046.5(ARSB):c.903C>T:p.Asn301=	coding	Benign
5	78886027	T	C	T78886027C	ARSB	NM_000046.5(ARSB):c.899-200A>G	noncoding	Benign
5	78955370	C	A	C78955370A	ARSB	NM_000046.5(ARSB):c.823G>T:p.Glu275Ter	coding	Pathogenic
5	78955428	A	T	A78955428T	ARSB	NM_000046.5(ARSB):c.765T>A:p.Tyr255Ter	coding	Pathogenic/Likely_pathogenic
5	78955440	G	C	G78955440C	ARSB	NM_000046.5(ARSB):c.753C>G:p.Tyr251Ter	coding	Pathogenic
5	78955524	A	G	A78955524G	ARSB	NM_000046.5(ARSB):c.691-22T>C	noncoding	Benign
5	78964145	A	C	A78964145C	ARSB	NM_000046.5(ARSB):c.690+271T>G	noncoding	Benign
5	78964477	T	C	T78964477C	ARSB	NM_000046.5(ARSB):c.629A>G:p.Tyr210Cys	coding	Pathogenic
5	78964517	G	A	G78964517A	ARSB	NM_000046.5(ARSB):c.589C>T:p.Arg197Ter	coding	Pathogenic
5	78964532	A	G	A78964532G	ARSB	NM_000046.5(ARSB):c.574T>C:p.Cys192Arg	coding	Pathogenic/Likely_pathogenic
5	78964535	G	A	G78964535A	ARSB	NM_000046.5(ARSB):c.571C>T:p.Arg191Ter	coding	Pathogenic
5	78964536	T	C	T78964536C	ARSB	NM_000046.5(ARSB):c.570A>G:p.Thr190=	coding	Benign
5	78968846	T	C	T78968846C	ARSB	NM_000046.5(ARSB):c.499+160A>G	noncoding	Benign
5	78968861	C	G	C78968861G	ARSB	NM_000046.5(ARSB):c.499+145G>C	noncoding	Benign
5	78969026	C	T	C78969026T	ARSB	NM_000046.5(ARSB):c.479G>A:p.Arg160Gln	coding	Pathogenic/Likely_pathogenic
5	78969027	G	A	G78969027A	ARSB	NM_000046.5(ARSB):c.478C>T:p.Arg160Ter	coding	Pathogenic
5	78969049	C	A	C78969049A	ARSB	NM_000046.5(ARSB):c.456G>T:p.Arg152=	coding	Benign
5	78969051	G	A	G78969051A	ARSB	NM_000046.5(ARSB):c.454C>T:p.Arg152Trp	coding	Pathogenic
5	78969067	C	T	C78969067T	ARSB	NM_000046.5(ARSB):c.438G>A:p.Trp146Ter	coding	Pathogenic/Likely_pathogenic
5	78969075	C	T	C78969075T	ARSB	NM_000046.5(ARSB):c.430G>A:p.Gly144Arg	coding	Pathogenic/Likely_pathogenic
5	78969218	A	G	A78969218G	ARSB	NM_000046.5(ARSB):c.313-26T>C	noncoding	Benign
5	78969269	C	T	C78969269T	ARSB	NM_000046.5(ARSB):c.313-77G>A	noncoding	Benign
5	78969273	C	T	C78969273T	ARSB	NM_000046.5(ARSB):c.313-81G>A	noncoding	Benign
5	78984939	G	A	G78984939A	ARSB	NM_000046.5(ARSB):c.310C>T:p.Gln104Ter	coding	Pathogenic
5	78984965	C	T	C78984965T	ARSB	NM_000046.5(ARSB):c.284G>A:p.Arg95Gln	coding	Pathogenic/Likely_pathogenic
5	78984968	G	A	G78984968A	ARSB	NM_000046.5(ARSB):c.281C>T:p.Ser94Leu	coding	Pathogenic
5	78984985	C	A	C78984985A	ARSB	NM_000046.5(ARSB):c.264G>T:p.Gln88His	coding	Pathogenic
5	78984987	G	A	G78984987A	ARSB	NM_000046.5(ARSB):c.262C>T:p.Gln88Ter	coding	Pathogenic
5	78985004	A	C	A78985004C	ARSB	NM_000046.5(ARSB):c.245T>G:p.Leu82Arg	coding	Pathogenic/Likely_pathogenic
5	78985034	A	C	A78985034C	ARSB	NM_000046.5(ARSB):c.215T>G:p.Leu72Arg	coding	Pathogenic/Likely_pathogenic
5	78985097	A	G	A78985097G	ARSB	NM_000046.5(ARSB):c.152T>C:p.Leu51Pro	coding	Pathogenic
5	78985151	G	A	G78985151A	ARSB	NM_000046.5(ARSB):c.98C>T:p.Ala33Val	coding	Benign/Likely_benign
5	78985550	T	C	T78985550C	ARSB	NM_198709.3(ARSB):c.-302A>G	noncoding	Benign
5	78986426	T	C	T78986426C	ARSB	NM_000046.3(ARSB):c.-1178A>G	noncoding	Benign
5	78998148	T	C	T78998148C	DMGDH	NM_013391.3(DMGDH):c.2535A>G:p.Glu845=	coding	Benign
5	79024262	T	C	T79024262C	DMGDH	NM_013391.3(DMGDH):c.2250+9A>G	noncoding	Benign
5	79028529	A	G	A79028529G	DMGDH	NM_013391.3(DMGDH):c.1936T>C:p.Ser646Pro	coding	Benign
5	79028659	T	C	T79028659C	DMGDH	NM_013391.3(DMGDH):c.1815-9A>G	noncoding	Benign
5	79030927	G	C	G79030927C	DMGDH	NM_013391.3(DMGDH):c.1589C>G:p.Ala530Gly	coding	Benign
5	79031002	A	T	A79031002T	DMGDH	NM_013391.3(DMGDH):c.1518-4T>A	noncoding	Benign/Likely_benign
5	79031014	T	G	T79031014G	DMGDH	NM_013391.3(DMGDH):c.1518-16A>C	noncoding	Benign
5	79032737	G	A	G79032737A	DMGDH	NM_013391.3(DMGDH):c.1467C>T:p.Gly489=	coding	Benign
5	79042379	T	C	T79042379C	DMGDH	NM_013391.3(DMGDH):c.1097A>G:p.Asn366Ser	coding	Benign
5	79044400	G	A	G79044400A	DMGDH	NM_013391.3(DMGDH):c.898C>T:p.Leu300Phe	coding	Benign
5	79055813	A	C	A79055813C	DMGDH	NM_013391.3(DMGDH):c.372T>G:p.Gly124=	coding	Benign
5	79055915	A	C	A79055915C	DMGDH	NM_013391.3(DMGDH):c.277-7T>G	noncoding	Benign
5	79069632	G	C	G79069632C	DMGDH	NM_013391.3(DMGDH):c.-12C>G	noncoding	Benign
5	79079399	C	T	C79079399T	BHMT2	NM_017614.5(BHMT2):c.197C>T:p.Ala66Val	coding	Benign
5	79119314	C	T	C79119314T	BHMT	NM_001713.3(BHMT):c.222C>T:p.Phe74=	coding	Benign
5	79121329	C	T	C79121329T	BHMT	NM_001713.3(BHMT):c.589C>T:p.Pro197Ser	coding	Benign
5	79121335	G	A	G79121335A	BHMT	NM_001713.3(BHMT):c.595G>A:p.Gly199Ser	coding	Benign
5	79277951	T	C	T79277951C	JMY	NM_152405.5(JMY):c.1074T>C:p.Leu358=	coding	Benign
5	79277955	G	A	G79277955A	JMY	NM_152405.5(JMY):c.1078G>A:p.Asp360Asn	coding	Benign
5	79300698	C	T	C79300698T	JMY	NM_152405.5(JMY):c.1716C>T:p.Tyr572=	coding	Benign
5	79300757	C	T	C79300757T	JMY	NM_152405.5(JMY):c.1775C>T:p.Ala592Val	coding	Benign
5	79401890	T	C	T79401890C	HOMER1	NM_004272.5(HOMER1):c.684+9A>G	noncoding	Benign
5	79401974	C	T	C79401974T	HOMER1	NM_004272.5(HOMER1):c.609G>A:p.Glu203=	coding	Benign
5	79439026	A	G	A79439026G	HOMER1	NM_004272.5(HOMER1):c.511T>C:p.Leu171=	coding	Benign
5	79450980	T	C	T79450980C	HOMER1	NM_004272.5(HOMER1):c.294+10A>G	noncoding	Benign
5	79690010	G	A	G79690010A	CMYA5	NM_153610.5(CMYA5):c.103G>A:p.Glu35Lys	coding	Benign
5	79729205	G	A	G79729205A	CMYA5	NM_153610.5(CMYA5):c.440G>A:p.Arg147Gln	coding	Benign
5	79729290	G	T	G79729290T	CMYA5	NM_153610.5(CMYA5):c.525G>T:p.Gln175His	coding	Benign
5	79729467	G	A	G79729467A	CMYA5	NM_153610.5(CMYA5):c.702G>A:p.Ser234=	coding	Benign
5	79729680	C	T	C79729680T	CMYA5	NM_153610.5(CMYA5):c.915C>T:p.Gly305=	coding	Benign
5	79729792	C	T	C79729792T	CMYA5	NM_153610.5(CMYA5):c.1027C>T:p.Pro343Ser	coding	Benign
5	79729866	A	G	A79729866G	CMYA5	NM_153610.5(CMYA5):c.1101A>G:p.Pro367=	coding	Benign
5	79729977	A	G	A79729977G	CMYA5	NM_153610.5(CMYA5):c.1212A>G:p.Gly404=	coding	Benign
5	79730176	G	A	G79730176A	CMYA5	NM_153610.5(CMYA5):c.1411G>A:p.Ala471Thr	coding	Benign
5	79730516	A	C	A79730516C	CMYA5	NM_153610.5(CMYA5):c.1751A>C:p.Glu584Ala	coding	Benign
5	79730587	T	C	T79730587C	CMYA5	NM_153610.5(CMYA5):c.1822T>C:p.Leu608=	coding	Benign
5	79731273	C	T	C79731273T	CMYA5	NM_153610.5(CMYA5):c.2508C>T:p.Asp836=	coding	Benign
5	79732098	G	A	G79732098A	CMYA5	NM_153610.5(CMYA5):c.3333G>A:p.Gln1111=	coding	Benign
5	79733364	A	G	A79733364G	CMYA5	NM_153610.5(CMYA5):c.4599A>G:p.Leu1533=	coding	Benign
5	79733939	C	T	C79733939T	CMYA5	NM_153610.5(CMYA5):c.5174C>T:p.Ser1725Leu	coding	Benign
5	79734435	G	A	G79734435A	CMYA5	NM_153610.5(CMYA5):c.5670G>A:p.Lys1890=	coding	Benign
5	79734800	C	T	C79734800T	CMYA5	NM_153610.5(CMYA5):c.6035C>T:p.Ser2012Phe	coding	Benign
5	79734815	A	G	A79734815G	CMYA5	NM_153610.5(CMYA5):c.6050A>G:p.Glu2017Gly	coding	Benign
5	79735103	T	C	T79735103C	CMYA5	NM_153610.5(CMYA5):c.6338T>C:p.Ile2113Thr	coding	Benign
5	79735257	G	A	G79735257A	CMYA5	NM_153610.5(CMYA5):c.6492G>A:p.Pro2164=	coding	Benign
5	79735723	T	C	T79735723C	CMYA5	NM_153610.5(CMYA5):c.6958T>C:p.Tyr2320His	coding	Benign
5	79735912	A	G	A79735912G	CMYA5	NM_153610.5(CMYA5):c.7147A>G:p.Lys2383Glu	coding	Benign
5	79736244	G	T	G79736244T	CMYA5	NM_153610.5(CMYA5):c.7479G>T:p.Lys2493Asn	coding	Benign
5	79736567	T	C	T79736567C	CMYA5	NM_153610.5(CMYA5):c.7802T>C:p.Met2601Thr	coding	Benign
5	79736818	G	T	G79736818T	CMYA5	NM_153610.5(CMYA5):c.8053G>T:p.Gly2685Cys	coding	Benign
5	79737072	A	G	A79737072G	CMYA5	NM_153610.5(CMYA5):c.8307A>G:p.Leu2769=	coding	Benign
5	79737109	A	T	A79737109T	CMYA5	NM_153610.5(CMYA5):c.8344A>T:p.Met2782Leu	coding	Benign
5	79737189	G	A	G79737189A	CMYA5	NM_153610.5(CMYA5):c.8424G>A:p.Pro2808=	coding	Benign
5	79738204	G	T	G79738204T	CMYA5	NM_153610.5(CMYA5):c.9439G>T:p.Asp3147Tyr	coding	Benign
5	79738749	C	T	C79738749T	CMYA5	NM_153610.5(CMYA5):c.9984C>T:p.Asp3328=	coding	Benign
5	79738873	A	G	A79738873G	CMYA5	NM_153610.5(CMYA5):c.10108A>G:p.Asn3370Asp	coding	Benign
5	79739321	C	A	C79739321A	CMYA5	NM_153610.5(CMYA5):c.10556C>A:p.Pro3519Gln	coding	Benign
5	79743871	G	A	G79743871A	CMYA5	NM_153610.5(CMYA5):c.10683G>A:p.Leu3561=	coding	Benign
5	79745338	G	A	G79745338A	CMYA5	NM_153610.5(CMYA5):c.10851G>A:p.Lys3617=	coding	Benign
5	79763131	G	A	G79763131A	CMYA5	NM_153610.5(CMYA5):c.11477G>A:p.Arg3826Gln	coding	Benign
5	79789040	T	C	T79789040C	CMYA5	NM_153610.5(CMYA5):c.11625T>C:p.Tyr3875=	coding	Benign
5	80055915	A	G	A80055915G	THBS4	NM_003248.6(THBS4):c.423A>G:p.Leu141=	coding	Benign
5	80068037	C	T	C80068037T	THBS4	NM_003248.6(THBS4):c.1259C>T:p.Ala420Val	coding	Benign
5	80076898	G	A	G80076898A	THBS4	NM_003248.6(THBS4):c.1936G>A:p.Val646Ile	coding	Benign
5	80146107	G	A	G80146107A	SERINC5	NM_001174072.3(SERINC5):c.1221C>T:p.Thr407=	coding	Benign
5	80158940	A	G	A80158940G	SERINC5	NM_001174072.3(SERINC5):c.882T>C:p.Asn294=	coding	Benign
5	80169461	A	G	A80169461G	SERINC5	NM_001174072.3(SERINC5):c.637T>C:p.Leu213=	coding	Benign
5	80321116	C	G	C80321116G	SPZ1	NM_032567.4(SPZ1):c.901C>G:p.His301Asp	coding	Benign
5	80321119	G	A	G80321119A	SPZ1	NM_032567.4(SPZ1):c.904G>A:p.Glu302Lys	coding	Benign
5	80321204	T	C	T80321204C	SPZ1	NM_032567.4(SPZ1):c.989T>C:p.Ile330Thr	coding	Benign
5	80321235	A	G	A80321235G	SPZ1	NM_032567.4(SPZ1):c.1020A>G:p.Glu340=	coding	Benign
5	80436812	G	A	G80436812A	ZFYVE16	NM_001284236.3(ZFYVE16):c.127G>A:p.Val43Ile	coding	Benign
5	80437434	G	A	G80437434A	ZFYVE16	NM_001284236.3(ZFYVE16):c.749G>A:p.Arg250Gln	coding	Benign
5	80437866	G	A	G80437866A	ZFYVE16	NM_001284236.3(ZFYVE16):c.1181G>A:p.Arg394Gln	coding	Benign
5	80474752	G	A	G80474752A	ZFYVE16	NM_001284236.3(ZFYVE16):c.4383G>A:p.Ala1461=	coding	Benign
5	80633904	T	A	T80633904A	DHFR	NM_000791.4(DHFR):c.458A>T:p.Asp153Val	coding	Pathogenic
5	80649393	G	A	G80649393A	DHFR	NM_000791.4(DHFR):c.238C>T:p.Leu80Phe	coding	Pathogenic
5	80654396	G	A	G80654396A	DHFR	NM_000791.4(DHFR):c.86+8C>T	noncoding	Benign
5	80654748	G	A	G80654748A	MSH3	NM_002439.5(MSH3):c.21G>A:p.Ala7=	coding	Benign/Likely_benign
5	80654838	C	T	C80654838T	MSH3	NM_002439.5(MSH3):c.111C>T:p.Thr37=	coding	Benign/Likely_benign
5	80654856	A	G	A80654856G	MSH3	NM_002439.5(MSH3):c.129A>G:p.Ala43=	coding	Benign
5	80654889	T	C	T80654889C	MSH3	NM_002439.5(MSH3):c.162T>C:p.Ala54=	coding	Benign
5	80654896	G	C	G80654896C	MSH3	NM_002439.5(MSH3):c.169G>C:p.Ala57Pro	coding	Benign
5	80654899	G	C	G80654899C	MSH3	NM_002439.5(MSH3):c.172G>C:p.Ala58Pro	coding	Benign
5	80654900	C	T	C80654900T	MSH3	NM_002439.5(MSH3):c.173C>T:p.Ala58Val	coding	Benign
5	80654905	G	C	G80654905C	MSH3	NM_002439.5(MSH3):c.178G>C:p.Ala60Pro	coding	Benign
5	80654908	G	C	G80654908C	MSH3	NM_002439.5(MSH3):c.181G>C:p.Ala61Pro	coding	Benign
5	80654962	A	G	A80654962G	DHFR;MSH3	NM_000791.4(DHFR):c.-473T>C	coding	Benign
5	80656426	A	T	A80656426T	MSH3	NM_002439.5(MSH3):c.253A>T:p.Arg85Ter	coding	Pathogenic
5	80656465	A	T	A80656465T	MSH3	NM_002439.5(MSH3):c.292A>T:p.Lys98Ter	coding	Pathogenic
5	80656471	A	T	A80656471T	MSH3	NM_002439.5(MSH3):c.298A>T:p.Lys100Ter	coding	Pathogenic
5	80656489	C	T	C80656489T	MSH3	NM_002439.5(MSH3):c.316C>T:p.Gln106Ter	coding	Pathogenic
5	80665349	C	T	C80665349T	MSH3	NM_002439.5(MSH3):c.565C>T:p.Gln189Ter	coding	Pathogenic
5	80665358	C	T	C80665358T	MSH3	NM_002439.5(MSH3):c.574C>T:p.Gln192Ter	coding	Pathogenic
5	80670157	C	T	C80670157T	MSH3	NM_002439.5(MSH3):c.640C>T:p.Gln214Ter	coding	Pathogenic
5	80670210	G	A	G80670210A	MSH3	NM_002439.5(MSH3):c.693G>A:p.Pro231=	coding	Benign
5	80670214	G	T	G80670214T	MSH3	NM_002439.5(MSH3):c.697G>T:p.Glu233Ter	coding	Pathogenic
5	80670220	C	T	C80670220T	MSH3	NM_002439.5(MSH3):c.703C>T:p.Gln235Ter	coding	Pathogenic
5	80670225	C	G	C80670225G	MSH3	NM_002439.5(MSH3):c.708C>G:p.Tyr236Ter	coding	Pathogenic
5	80670307	G	T	G80670307T	MSH3	NM_002439.5(MSH3):c.790G>T:p.Glu264Ter	coding	Pathogenic
5	80670317	G	A	G80670317A	MSH3	NM_002439.5(MSH3):c.792+8G>A	noncoding	Benign/Likely_benign
5	80672253	C	T	C80672253T	MSH3	NM_002439.5(MSH3):c.802C>T:p.Arg268Ter	coding	Pathogenic
5	80672756	C	T	C80672756T	MSH3	NM_002439.5(MSH3):c.925C>T:p.Gln309Ter	coding	Pathogenic
5	80675078	A	T	A80675078T	MSH3	NM_002439.5(MSH3):c.1123A>T:p.Lys375Ter	coding	Pathogenic
5	80679009	C	G	C80679009G	MSH3	NM_002439.5(MSH3):c.1256C>G:p.Ser419Ter	coding	Pathogenic
5	80679017	C	T	C80679017T	MSH3	NM_002439.5(MSH3):c.1264C>T:p.Gln422Ter	coding	Pathogenic
5	80725472	C	T	C80725472T	MSH3	NM_002439.5(MSH3):c.1360C>T:p.Arg454Ter	coding	Pathogenic
5	80725478	G	T	G80725478T	MSH3	NM_002439.5(MSH3):c.1366G>T:p.Glu456Ter	coding	Pathogenic
5	80728866	C	A	C80728866A	MSH3	NM_002439.5(MSH3):c.1469C>A:p.Ser490Tyr	coding	Benign/Likely_benign
5	80728931	G	T	G80728931T	MSH3	NM_002439.5(MSH3):c.1534G>T:p.Glu512Ter	coding	Pathogenic
5	80728964	G	A	G80728964A	MSH3	NM_002439.5(MSH3):c.1567G>A:p.Glu523Lys	coding	Benign/Likely_benign
5	80741481	C	G	C80741481G	MSH3	NM_002439.5(MSH3):c.1586C>G:p.Ser529Ter	coding	Pathogenic
5	80761576	G	A	G80761576A	MSH3	NM_002439.5(MSH3):c.1794G>A:p.Ser598=	coding	Benign/Likely_benign
5	80761669	T	C	T80761669C	MSH3	NM_002439.5(MSH3):c.1887T>C:p.Tyr629=	coding	Benign/Likely_benign
5	80768028	G	A	G80768028A	MSH3	NM_002439.5(MSH3):c.1992G>A:p.Gln664=	coding	Benign/Likely_benign
5	80768093	T	G	T80768093G	MSH3	NM_002439.5(MSH3):c.2057T>G:p.Leu686Ter	coding	Pathogenic
5	80768929	C	T	C80768929T	MSH3	NM_002439.5(MSH3):c.2179C>T:p.Arg727Ter	coding	Pathogenic
5	80768950	C	T	C80768950T	MSH3	NM_002439.5(MSH3):c.2200C>T:p.Arg734Ter	coding	Pathogenic
5	80768962	A	T	A80768962T	MSH3	NM_002439.5(MSH3):c.2212A>T:p.Lys738Ter	coding	Pathogenic/Likely_pathogenic
5	80778719	G	A	G80778719A	MSH3	NM_002439.5(MSH3):c.2319-1G>A	noncoding	Pathogenic
5	80778790	G	T	G80778790T	MSH3	NM_002439.5(MSH3):c.2389G>T:p.Glu797Ter	coding	Pathogenic
5	80778822	G	A	G80778822A	MSH3	NM_002439.5(MSH3):c.2421G>A:p.Trp807Ter	coding	Pathogenic
5	80787583	T	A	T80787583A	MSH3	NM_002439.5(MSH3):c.2454T>A:p.Tyr818Ter	coding	Pathogenic
5	80787640	G	A	G80787640A	MSH3	NM_002439.5(MSH3):c.2511G>A:p.Leu837=	coding	Benign/Likely_benign
5	80813591	C	G	C80813591G	MSH3	NM_002439.5(MSH3):c.2663C>G:p.Ser888Ter	coding	Pathogenic
5	80813614	G	T	G80813614T	MSH3	NM_002439.5(MSH3):c.2686G>T:p.Gly896Ter	coding	Pathogenic
5	80854162	A	G	A80854162G	MSH3	NM_002439.5(MSH3):c.2846A>G:p.Gln949Arg	coding	Benign
5	80864811	A	C	A80864811C	MSH3	NM_002439.5(MSH3):c.3001-2A>C	noncoding	Pathogenic
5	80873118	G	A	G80873118A	MSH3	NM_002439.5(MSH3):c.3133G>A:p.Ala1045Thr	coding	Benign
5	81080117	A	G	A81080117G	RASGRF2	NM_006909.3(RASGRF2):c.888-4A>G	noncoding	Benign
5	81123771	A	G	A81123771G	RASGRF2	NM_006909.3(RASGRF2):c.2596+4A>G	noncoding	Benign
5	82276183	A	T	A82276183T	RPS23	NM_001025.5(RPS23):c.358T>A:p.Phe120Ile	coding	Pathogenic
5	82276483	C	T	C82276483T	RPS23	NM_001025.5(RPS23):c.200G>A:p.Arg67Lys	coding	Pathogenic
5	83104909	G	T	G83104909T	XRCC4	NM_003401.5(XRCC4):c.-10-1G>T	noncoding	Pathogenic
5	83104954	C	G	C83104954G	XRCC4	NM_003401.5(XRCC4):c.35C>G:p.Ser12Cys	coding	Benign
5	83105046	T	C	T83105046C	XRCC4	NM_003401.5(XRCC4):c.127T>C:p.Trp43Arg	coding	Pathogenic/Likely_pathogenic
5	83111134	T	G	T83111134G	XRCC4	NM_003401.5(XRCC4):c.246T>G:p.Asp82Glu	coding	Pathogenic
5	83111195	G	A	G83111195A	XRCC4	NM_003401.5(XRCC4):c.307G>A:p.Asp103Asn	coding	Benign
5	83195865	T	G	T83195865G	XRCC4	NM_003401.5(XRCC4):c.411T>G:p.Asn137Lys	coding	Benign
5	83195878	G	C	G83195878C	XRCC4	NM_003401.5(XRCC4):c.424G>C:p.Glu142Gln	coding	Benign
5	83195935	C	T	C83195935T	XRCC4	NM_003401.5(XRCC4):c.481C>T:p.Arg161Ter	coding	Pathogenic
5	83195936	G	A	G83195936A	XRCC4	NM_003401.5(XRCC4):c.482G>A:p.Arg161Gln	coding	Pathogenic
5	83204849	C	T	C83204849T	XRCC4	NM_003401.5(XRCC4):c.673C>T:p.Arg225Ter	coding	Pathogenic
5	83258607	C	T	C83258607T	XRCC4	NM_003401.5(XRCC4):c.823C>T:p.Arg275Ter	coding	Pathogenic
5	83471911	A	C	A83471911C	VCAN	NM_004385.5(VCAN):c.-119A>C	noncoding	Benign/Likely_benign
5	83490356	T	G	T83490356G	VCAN	NM_004385.5(VCAN):c.329T>G:p.Val110Gly	coding	Benign
5	83490375	T	C	T83490375C	VCAN	NM_004385.5(VCAN):c.348T>C:p.Thr116=	coding	Benign
5	83490420	C	T	C83490420T	VCAN	NM_004385.5(VCAN):c.393C>T:p.Asp131=	coding	Benign
5	83490421	G	A	G83490421A	VCAN	NM_004385.5(VCAN):c.394G>A:p.Val132Ile	coding	Benign
5	83490453	G	A	G83490453A	VCAN	NM_004385.5(VCAN):c.426G>A:p.Thr142=	coding	Benign
5	83493674	G	A	G83493674A	VCAN	NM_004385.5(VCAN):c.574G>A:p.Gly192Arg	coding	Benign/Likely_benign
5	83493691	C	T	C83493691T	VCAN	NM_004385.5(VCAN):c.591C>T:p.Asp197=	coding	Benign/Likely_benign
5	83493813	C	T	C83493813T	VCAN	NM_004385.5(VCAN):c.630C>T:p.Ile210=	coding	Benign
5	83493828	A	G	A83493828G	VCAN	NM_004385.5(VCAN):c.645A>G:p.Val215=	coding	Benign
5	83493873	T	C	T83493873C	VCAN	NM_004385.5(VCAN):c.690T>C:p.Tyr230=	coding	Benign/Likely_benign
5	83512117	C	T	C83512117T	VCAN	NM_004385.5(VCAN):c.763C>T:p.Leu255Phe	coding	Benign
5	83512208	C	T	C83512208T	VCAN	NM_004385.5(VCAN):c.854C>T:p.Ala285Val	coding	Benign/Likely_benign
5	83512253	C	T	C83512253T	VCAN	NM_004385.5(VCAN):c.899C>T:p.Ser300Leu	coding	Benign
5	83512263	C	T	C83512263T	VCAN	NM_004385.5(VCAN):c.909C>T:p.Ser303=	coding	Benign
5	83512363	C	G	C83512363G	VCAN	NM_004385.5(VCAN):c.1009C>G:p.Pro337Ala	coding	Benign
5	83519339	A	G	A83519339G	VCAN	NM_004385.5(VCAN):c.1043-10A>G	noncoding	Benign
5	83519351	A	G	A83519351G	VCAN	NM_004385.5(VCAN):c.1045A>G:p.Lys349Glu	coding	Benign
5	83519498	G	A	G83519498A	VCAN	NM_004385.5(VCAN):c.1192G>A:p.Val398Met	coding	Benign/Likely_benign
5	83519587	T	C	T83519587C	VCAN	NM_004385.5(VCAN):c.1281T>C:p.Thr427=	coding	Benign
5	83519589	G	A	G83519589A	VCAN	NM_004385.5(VCAN):c.1283G>A:p.Gly428Asp	coding	Benign
5	83519763	C	T	C83519763T	VCAN	NM_004385.5(VCAN):c.1457C>T:p.Ser486Leu	coding	Benign
5	83519764	G	A	G83519764A	VCAN	NM_004385.5(VCAN):c.1458G>A:p.Ser486=	coding	Benign
5	83519829	T	A	T83519829A	VCAN	NM_004385.5(VCAN):c.1523T>A:p.Ile508Asn	coding	Benign/Likely_benign
5	83519956	C	T	C83519956T	VCAN	NM_004385.5(VCAN):c.1650C>T:p.Phe550=	coding	Benign
5	83520100	G	A	G83520100A	VCAN	NM_004385.5(VCAN):c.1794G>A:p.Glu598=	coding	Benign/Likely_benign
5	83520170	T	C	T83520170C	VCAN	NM_004385.5(VCAN):c.1864T>C:p.Trp622Arg	coding	Benign
5	83520201	C	T	C83520201T	VCAN	NM_004385.5(VCAN):c.1895C>T:p.Thr632Met	coding	Benign/Likely_benign
5	83520202	G	A	G83520202A	VCAN	NM_004385.5(VCAN):c.1896G>A:p.Thr632=	coding	Benign
5	83520371	A	G	A83520371G	VCAN	NM_004385.5(VCAN):c.2065A>G:p.Thr689Ala	coding	Benign
5	83520465	T	C	T83520465C	VCAN	NM_004385.5(VCAN):c.2159T>C:p.Val720Ala	coding	Benign/Likely_benign
5	83520526	T	C	T83520526C	VCAN	NM_004385.5(VCAN):c.2220T>C:p.Ser740=	coding	Benign/Likely_benign
5	83520621	C	G	C83520621G	VCAN	NM_004385.5(VCAN):c.2315C>G:p.Ala772Gly	coding	Benign/Likely_benign
5	83520684	T	C	T83520684C	VCAN	NM_004385.5(VCAN):c.2378T>C:p.Leu793Ser	coding	Benign
5	83520974	G	T	G83520974T	VCAN	NM_004385.5(VCAN):c.2668G>T:p.Gly890Cys	coding	Benign
5	83521181	A	T	A83521181T	VCAN	NM_004385.5(VCAN):c.2875A>T:p.Ser959Cys	coding	Benign/Likely_benign
5	83521193	C	T	C83521193T	VCAN	NM_004385.5(VCAN):c.2887C>T:p.Pro963Ser	coding	Benign
5	83521231	T	C	T83521231C	VCAN	NM_004385.5(VCAN):c.2925T>C:p.Leu975=	coding	Benign
5	83521249	A	T	A83521249T	VCAN	NM_004385.5(VCAN):c.2943A>T:p.Thr981=	coding	Benign/Likely_benign
5	83521400	C	G	C83521400G	VCAN	NM_004385.5(VCAN):c.3094C>G:p.Gln1032Glu	coding	Benign/Likely_benign
5	83521494	T	C	T83521494C	VCAN	NM_004385.5(VCAN):c.3188T>C:p.Leu1063Pro	coding	Benign/Likely_benign
5	83521507	G	A	G83521507A	VCAN	NM_004385.5(VCAN):c.3201G>A:p.Glu1067=	coding	Benign/Likely_benign
5	83521588	A	G	A83521588G	VCAN	NM_004385.5(VCAN):c.3282A>G:p.Pro1094=	coding	Benign/Likely_benign
5	83522019	G	C	G83522019C	VCAN	NM_004385.5(VCAN):c.3713G>C:p.Arg1238Thr	coding	Benign/Likely_benign
5	83537001	T	A	T83537001A	VCAN	NM_004385.5(VCAN):c.4004-6T>A	noncoding	Pathogenic
5	83537002	T	A	T83537002A	VCAN	NM_004385.5(VCAN):c.4004-5T>A	noncoding	Pathogenic
5	83537002	T	C	T83537002C	VCAN	NM_004385.5(VCAN):c.4004-5T>C	noncoding	Pathogenic
5	83537005	A	C	A83537005C	VCAN;VCAN-AS1	NM_004385.5(VCAN):c.4004-2A>C	noncoding	Pathogenic
5	83537005	A	G	A83537005G	VCAN	NM_004385.5(VCAN):c.4004-2A>G	noncoding	Pathogenic
5	83537005	A	T	A83537005T	VCAN	NM_004385.5(VCAN):c.4004-2A>T	noncoding	Pathogenic
5	83537006	G	A	G83537006A	VCAN	NM_004385.5(VCAN):c.4004-1G>A	noncoding	Pathogenic
5	83537006	G	C	G83537006C	VCAN	NM_004385.5(VCAN):c.4004-1G>C	noncoding	Pathogenic
5	83537006	G	T	G83537006T	VCAN	NM_004385.5(VCAN):c.4004-1G>T	noncoding	Pathogenic
5	83537275	A	G	A83537275G	VCAN	NM_004385.5(VCAN):c.4272A>G:p.Pro1424=	coding	Benign/Likely_benign
5	83537326	G	A	G83537326A	VCAN	NM_004385.5(VCAN):c.4323G>A:p.Gln1441=	coding	Benign
5	83537425	T	C	T83537425C	VCAN	NM_004385.5(VCAN):c.4422T>C:p.Thr1474=	coding	Benign
5	83537549	A	G	A83537549G	VCAN	NM_004385.5(VCAN):c.4546A>G:p.Lys1516Glu	coding	Benign/Likely_benign
5	83537550	A	G	A83537550G	VCAN	NM_004385.5(VCAN):c.4547A>G:p.Lys1516Arg	coding	Benign
5	83537572	A	G	A83537572G	VCAN	NM_004385.5(VCAN):c.4569A>G:p.Thr1523=	coding	Benign
5	83537607	A	G	A83537607G	VCAN	NM_004385.5(VCAN):c.4604A>G:p.Glu1535Gly	coding	Benign/Likely_benign
5	83537765	C	A	C83537765A	VCAN	NM_004385.5(VCAN):c.4762C>A:p.Pro1588Thr	coding	Benign
5	83538158	A	T	A83538158T	VCAN	NM_004385.5(VCAN):c.5155A>T:p.Thr1719Ser	coding	Benign
5	83538190	G	A	G83538190A	VCAN	NM_004385.5(VCAN):c.5187G>A:p.Glu1729=	coding	Benign/Likely_benign
5	83538193	A	G	A83538193G	VCAN	NM_004385.5(VCAN):c.5190A>G:p.Gly1730=	coding	Benign/Likely_benign
5	83538205	G	A	G83538205A	VCAN	NM_004385.5(VCAN):c.5202G>A:p.Thr1734=	coding	Benign/Likely_benign
5	83538243	C	T	C83538243T	VCAN	NM_004385.5(VCAN):c.5240C>T:p.Ser1747Leu	coding	Benign
5	83538480	G	A	G83538480A	VCAN	NM_004385.5(VCAN):c.5477G>A:p.Arg1826His	coding	Benign
5	83538492	C	T	C83538492T	VCAN	NM_004385.5(VCAN):c.5489C>T:p.Ser1830Phe	coding	Benign
5	83538529	C	T	C83538529T	VCAN	NM_004385.5(VCAN):c.5526C>T:p.Ala1842=	coding	Benign/Likely_benign
5	83538579	C	A	C83538579A	VCAN	NM_004385.5(VCAN):c.5576C>A:p.Ala1859Glu	coding	Benign
5	83538618	C	T	C83538618T	VCAN	NM_004385.5(VCAN):c.5615C>T:p.Pro1872Leu	coding	Benign/Likely_benign
5	83538684	T	C	T83538684C	VCAN	NM_004385.5(VCAN):c.5681T>C:p.Val1894Ala	coding	Benign
5	83538753	A	T	A83538753T	VCAN	NM_004385.5(VCAN):c.5750A>T:p.Tyr1917Phe	coding	Benign/Likely_benign
5	83538811	T	C	T83538811C	VCAN	NM_004385.5(VCAN):c.5808T>C:p.Gly1936=	coding	Benign
5	83539126	C	T	C83539126T	VCAN	NM_004385.5(VCAN):c.6123C>T:p.Ile2041=	coding	Benign
5	83539129	C	T	C83539129T	VCAN	NM_004385.5(VCAN):c.6126C>T:p.Asp2042=	coding	Benign
5	83539130	G	A	G83539130A	VCAN	NM_004385.5(VCAN):c.6127G>A:p.Glu2043Lys	coding	Benign/Likely_benign
5	83539240	G	A	G83539240A	VCAN	NM_004385.5(VCAN):c.6237G>A:p.Lys2079=	coding	Benign/Likely_benign
5	83539325	C	G	C83539325G	VCAN	NM_004385.5(VCAN):c.6322C>G:p.Gln2108Glu	coding	Benign
5	83539652	C	T	C83539652T	VCAN	NM_004385.5(VCAN):c.6649C>T:p.Pro2217Ser	coding	Benign
5	83539726	A	G	A83539726G	VCAN	NM_004385.5(VCAN):c.6723A>G:p.Arg2241=	coding	Benign
5	83539905	T	A	T83539905A	VCAN	NM_004385.5(VCAN):c.6902T>A:p.Phe2301Tyr	coding	Benign
5	83539946	G	C	G83539946C	VCAN	NM_004385.5(VCAN):c.6943G>C:p.Val2315Leu	coding	Benign/Likely_benign
5	83540033	C	T	C83540033T	VCAN	NM_004385.5(VCAN):c.7030C>T:p.Pro2344Ser	coding	Benign
5	83540179	C	T	C83540179T	VCAN	NM_004385.5(VCAN):c.7176C>T:p.Asn2392=	coding	Benign
5	83540374	C	T	C83540374T	VCAN	NM_004385.5(VCAN):c.7371C>T:p.Thr2457=	coding	Benign
5	83540377	A	G	A83540377G	VCAN	NM_004385.5(VCAN):c.7374A>G:p.Thr2458=	coding	Benign/Likely_benign
5	83540422	C	T	C83540422T	VCAN	NM_004385.5(VCAN):c.7419C>T:p.Ser2473=	coding	Benign/Likely_benign
5	83540459	T	C	T83540459C	VCAN	NM_004385.5(VCAN):c.7456T>C:p.Ser2486Pro	coding	Benign
5	83540483	G	C	G83540483C	VCAN	NM_004385.5(VCAN):c.7480G>C:p.Glu2494Gln	coding	Benign/Likely_benign
5	83540492	A	G	A83540492G	VCAN	NM_004385.5(VCAN):c.7489A>G:p.Lys2497Glu	coding	Benign/Likely_benign
5	83540554	C	T	C83540554T	VCAN	NM_004385.5(VCAN):c.7551C>T:p.Asp2517=	coding	Benign/Likely_benign
5	83540571	G	A	G83540571A	VCAN	NM_004385.5(VCAN):c.7568G>A:p.Arg2523His	coding	Benign
5	83540584	C	T	C83540584T	VCAN	NM_004385.5(VCAN):c.7581C>T:p.Phe2527=	coding	Benign/Likely_benign
5	83540641	C	T	C83540641T	VCAN	NM_004385.5(VCAN):c.7638C>T:p.Asp2546=	coding	Benign/Likely_benign
5	83540718	C	T	C83540718T	VCAN	NM_004385.5(VCAN):c.7715C>T:p.Ser2572Leu	coding	Benign/Likely_benign
5	83540746	T	C	T83540746C	VCAN	NM_004385.5(VCAN):c.7743T>C:p.Asp2581=	coding	Benign
5	83540969	A	G	A83540969G	VCAN	NM_004385.5(VCAN):c.7966A>G:p.Thr2656Ala	coding	Benign/Likely_benign
5	83541002	G	C	G83541002C	VCAN	NM_004385.5(VCAN):c.7999G>C:p.Gly2667Arg	coding	Benign
5	83541093	G	A	G83541093A	VCAN	NM_004385.5(VCAN):c.8090G>A:p.Arg2697His	coding	Benign
5	83541341	C	T	C83541341T	VCAN	NM_004385.5(VCAN):c.8338C>T:p.Leu2780=	coding	Benign/Likely_benign
5	83541365	A	G	A83541365G	VCAN	NM_004385.5(VCAN):c.8362A>G:p.Met2788Val	coding	Benign/Likely_benign
5	83541625	G	A	G83541625A	VCAN	NM_004385.5(VCAN):c.8622G>A:p.Ala2874=	coding	Benign
5	83541686	G	C	G83541686C	VCAN	NM_004385.5(VCAN):c.8683G>C:p.Asp2895His	coding	Benign/Likely_benign
5	83541812	G	T	G83541812T	VCAN	NM_004385.5(VCAN):c.8809G>T:p.Asp2937Tyr	coding	Benign
5	83542012	G	A	G83542012A	VCAN	NM_004385.5(VCAN):c.9009G>A:p.Thr3003=	coding	Benign
5	83542021	T	A	T83542021A	VCAN	NM_004385.5(VCAN):c.9018T>A:p.Ser3006=	coding	Benign
5	83542036	C	A	C83542036A	VCAN	NM_004385.5(VCAN):c.9033C>A:p.Asn3011Lys	coding	Benign
5	83542078	G	A	G83542078A	VCAN	NM_004385.5(VCAN):c.9075G>A:p.Thr3025=	coding	Benign
5	83542107	C	T	C83542107T	VCAN	NM_004385.5(VCAN):c.9104C>T:p.Ala3035Val	coding	Benign
5	83542127	G	A	G83542127A	VCAN	NM_004385.5(VCAN):c.9124G>A:p.Asp3042Asn	coding	Benign/Likely_benign
5	83542237	G	A	G83542237A	VCAN	NM_004385.5(VCAN):c.9234G>A:p.Glu3078=	coding	Benign/Likely_benign
5	83542269	G	A	G83542269A	VCAN	NM_004385.5(VCAN):c.9265+1G>A	coding	Pathogenic
5	83542269	G	C	G83542269C	VCAN	NM_004385.5(VCAN):c.9265+1G>C	coding	Pathogenic
5	83542270	T	A	T83542270A	VCAN	NM_004385.5(VCAN):c.9265+2T>A	noncoding	Pathogenic
5	83545546	G	C	G83545546C	VCAN	NM_004385.5(VCAN):c.9275G>C:p.Arg3092Pro	coding	Benign/Likely_benign
5	83545562	G	A	G83545562A	VCAN	NM_004385.5(VCAN):c.9291G>A:p.Pro3097=	coding	Benign/Likely_benign
5	83545657	T	C	T83545657C	VCAN	NM_004385.5(VCAN):c.9379+7T>C	noncoding	Benign
5	83547967	T	A	T83547967A	VCAN	NM_004385.5(VCAN):c.9380-4T>A	noncoding	Benign/Likely_benign
5	83548045	C	G	C83548045G	VCAN	NM_004385.5(VCAN):c.9454C>G:p.Leu3152Val	coding	Benign/Likely_benign
5	83553500	C	T	C83553500T	VCAN	NM_004385.5(VCAN):c.9630C>T:p.His3210=	coding	Benign
5	83579981	C	T	C83579981T	VCAN	NM_004385.5(VCAN):c.9882C>T:p.Val3294=	coding	Benign
5	83580059	G	C	G83580059C	VCAN	NM_004385.5(VCAN):c.9960G>C:p.Leu3320=	coding	Benign
5	83580452	A	G	A83580452G	VCAN	NM_004385.5(VCAN):c.*18A>G	noncoding	Benign/Likely_benign
5	83580465	A	G	A83580465G	VCAN	NM_004385.5(VCAN):c.*31A>G	noncoding	Benign/Likely_benign
5	83580523	A	G	A83580523G	VCAN	NM_004385.5(VCAN):c.*89A>G	noncoding	Benign
5	83580652	G	A	G83580652A	VCAN	NM_004385.5(VCAN):c.*218G>A	noncoding	Benign/Likely_benign
5	83581106	A	G	A83581106G	VCAN	NM_004385.5(VCAN):c.*672A>G	noncoding	Benign
5	83581164	A	G	A83581164G	VCAN	NM_004385.5(VCAN):c.*730A>G	noncoding	Benign
5	83581250	C	A	C83581250A	VCAN	NM_004385.5(VCAN):c.*816C>A	noncoding	Benign/Likely_benign
5	83581344	A	C	A83581344C	VCAN	NM_004385.5(VCAN):c.*910A>C	noncoding	Benign
5	83581395	T	C	T83581395C	VCAN	NM_004385.5(VCAN):c.*961T>C	noncoding	Benign/Likely_benign
5	83581515	C	T	C83581515T	VCAN	NM_004385.5(VCAN):c.*1081C>T	noncoding	Benign
5	83581700	G	C	G83581700C	VCAN	NM_004385.5(VCAN):c.*1266G>C	noncoding	Benign/Likely_benign
5	83581730	A	G	A83581730G	VCAN	NM_004385.5(VCAN):c.*1296A>G	noncoding	Benign
5	83581863	A	G	A83581863G	VCAN	NM_004385.5(VCAN):c.*1429A>G	noncoding	Benign
5	83581870	C	T	C83581870T	VCAN	NM_004385.5(VCAN):c.*1436C>T	noncoding	Benign
5	83582035	T	A	T83582035A	VCAN	NM_004385.5(VCAN):c.*1601T>A	noncoding	Benign
5	83582037	T	C	T83582037C	VCAN	NM_004385.5(VCAN):c.*1603T>C	noncoding	Benign
5	83582048	G	T	G83582048T	VCAN	NM_004385.5(VCAN):c.*1614G>T	noncoding	Benign/Likely_benign
5	83582086	G	C	G83582086C	VCAN	NM_004385.5(VCAN):c.*1652G>C	noncoding	Benign/Likely_benign
5	83582112	G	T	G83582112T	VCAN	NM_004385.5(VCAN):c.*1678G>T	noncoding	Benign
5	83582151	C	A	C83582151A	VCAN	NM_004385.5(VCAN):c.*1717C>A	noncoding	Benign
5	84066493	C	G	C84066493G	EDIL3	NM_005711.5(EDIL3):c.765G>C:p.Lys255Asn	coding	Benign
5	87268613	G	C	G87268613C	RASA1	NM_002890.3(RASA1):c.162G>C:p.Glu54Asp	coding	Benign/Likely_benign
5	87268660	A	G	A87268660G	RASA1	NM_002890.3(RASA1):c.209A>G:p.Glu70Gly	coding	Benign/Likely_benign
5	87268675	G	C	G87268675C	RASA1	NM_002890.3(RASA1):c.224G>C:p.Gly75Ala	coding	Benign/Likely_benign
5	87268747	C	T	C87268747T	RASA1	NM_002890.3(RASA1):c.296C>T:p.Ala99Val	coding	Benign/Likely_benign
5	87268755	G	T	G87268755T	RASA1	NM_002890.3(RASA1):c.304G>T:p.Val102Leu	coding	Benign/Likely_benign
5	87268811	C	A	C87268811A	RASA1	NM_002890.3(RASA1):c.360C>A:p.Pro120=	coding	Benign/Likely_benign
5	87268811	C	G	C87268811G	RASA1	NM_002890.3(RASA1):c.360C>G:p.Pro120=	coding	Benign
5	87268816	C	A	C87268816A	RASA1	NM_002890.3(RASA1):c.365C>A:p.Ser122Ter	coding	Pathogenic
5	87268835	C	T	C87268835T	RASA1	NM_002890.3(RASA1):c.384C>T:p.Leu128=	coding	Benign
5	87268943	C	A	C87268943A	RASA1	NM_002890.3(RASA1):c.492C>A:p.Tyr164Ter	coding	Pathogenic
5	87331420	T	C	T87331420C	RASA1	NM_002890.3(RASA1):c.612T>C:p.Tyr204=	coding	Benign/Likely_benign
5	87331464	C	G	C87331464G	RASA1	NM_002890.3(RASA1):c.656C>G:p.Ser219Ter	coding	Pathogenic
5	87333255	T	A	T87333255A	RASA1	NM_002890.3(RASA1):c.829-12T>A	noncoding	Benign/Likely_benign
5	87333258	G	A	G87333258A	RASA1	NM_002890.3(RASA1):c.829-9G>A	noncoding	Pathogenic
5	87333291	C	T	C87333291T	RASA1	NM_002890.3(RASA1):c.853C>T:p.Arg285Ter	coding	Pathogenic
5	87346674	G	A	G87346674A	RASA1	NM_002890.3(RASA1):c.1052G>A:p.Trp351Ter	coding	Pathogenic
5	87346734	T	C	T87346734C	RASA1	NM_002890.3(RASA1):c.1102+10T>C	noncoding	Benign/Likely_benign
5	87349212	A	C	A87349212C	CCNH;RASA1	NM_002890.3(RASA1):c.1103-2A>C	noncoding	Pathogenic
5	87349303	C	T	C87349303T	RASA1	NM_002890.3(RASA1):c.1192C>T:p.Arg398Ter	coding	Pathogenic
5	87349304	G	T	G87349304T	RASA1	NM_002890.3(RASA1):c.1193G>T:p.Arg398Leu	coding	Pathogenic
5	87349309	A	G	A87349309G	RASA1	NM_002890.3(RASA1):c.1198A>G:p.Lys400Glu	coding	Pathogenic
5	87349312	A	G	A87349312G	RASA1	NM_002890.3(RASA1):c.1201A>G:p.Ile401Val	coding	Pathogenic
5	87349333	C	T	C87349333T	RASA1	NM_002890.3(RASA1):c.1222C>T:p.Gln408Ter	coding	Pathogenic
5	87349359	T	G	T87349359G	RASA1	NM_002890.3(RASA1):c.1248T>G:p.Tyr416Ter	coding	Pathogenic
5	87353182	C	T	C87353182T	RASA1	NM_002890.3(RASA1):c.1279C>T:p.Arg427Ter	coding	Pathogenic
5	87353237	T	G	T87353237G	RASA1	NM_002890.3(RASA1):c.1332+2T>G	noncoding	Pathogenic
5	87353243	T	C	T87353243C	RASA1	NM_002890.3(RASA1):c.1332+8T>C	noncoding	Benign
5	87362589	G	A	G87362589A	RASA1	NM_002890.3(RASA1):c.1371G>A:p.Lys457=	coding	Benign/Likely_benign
5	87362612	G	A	G87362612A	RASA1	NM_002890.3(RASA1):c.1394G>A:p.Arg465His	coding	Benign/Likely_benign
5	87362672	G	T	G87362672T	RASA1	NM_002890.3(RASA1):c.1453+1G>T	coding	Pathogenic
5	87363388	G	A	G87363388A	RASA1	NM_002890.3(RASA1):c.1494G>A:p.Glu498=	coding	Benign/Likely_benign
5	87363428	C	T	C87363428T	RASA1	NM_002890.3(RASA1):c.1534C>T:p.Arg512Ter	coding	Pathogenic
5	87369821	G	A	G87369821A	RASA1	NM_002890.3(RASA1):c.1619G>A:p.Cys540Tyr	coding	Pathogenic
5	87369861	C	A	C87369861A	RASA1	NM_002890.3(RASA1):c.1659C>A:p.Tyr553Ter	coding	Pathogenic
5	87372122	G	A	G87372122A	CCNH;RASA1	NM_002890.3(RASA1):c.1703G>A:p.Trp568Ter	coding	Pathogenic
5	87374147	A	T	A87374147T	RASA1	NM_002890.3(RASA1):c.1777-16A>T	noncoding	Benign
5	87374149	T	A	T87374149A	RASA1	NM_002890.3(RASA1):c.1777-14T>A	noncoding	Benign
5	87374873	A	T	A87374873T	RASA1	NM_002890.3(RASA1):c.1968A>T:p.Ile656=	coding	Benign
5	87376416	C	T	C87376416T	RASA1	NM_002890.3(RASA1):c.2035C>T:p.Arg679Ter	coding	Pathogenic
5	87376506	C	T	C87376506T	RASA1	NM_002890.3(RASA1):c.2125C>T:p.Arg709Ter	coding	Pathogenic
5	87376512	C	T	C87376512T	RASA1	NM_002890.3(RASA1):c.2131C>T:p.Arg711Ter	coding	Pathogenic
5	87376545	G	T	G87376545T	RASA1	NM_002890.3(RASA1):c.2164G>T:p.Glu722Ter	coding	Pathogenic
5	87376563	G	T	G87376563T	RASA1	NM_002890.3(RASA1):c.2182G>T:p.Glu728Ter	coding	Pathogenic
5	87376566	G	T	G87376566T	RASA1	NM_002890.3(RASA1):c.2184+1G>T	coding	Pathogenic
5	87376941	C	T	C87376941T	RASA1	NM_002890.3(RASA1):c.2245C>T:p.Arg749Ter	coding	Pathogenic
5	87376982	C	T	C87376982T	RASA1	NM_002890.3(RASA1):c.2286C>T:p.His762=	coding	Benign
5	87376984	A	T	A87376984T	RASA1	NM_002890.3(RASA1):c.2288A>T:p.Glu763Val	coding	Benign
5	87378416	C	T	C87378416T	RASA1	NM_002890.3(RASA1):c.2365C>T:p.Arg789Ter	coding	Pathogenic
5	87379753	G	T	G87379753T	RASA1	NM_002890.3(RASA1):c.2506G>T:p.Glu836Ter	coding	Pathogenic
5	87379775	C	A	C87379775A	RASA1	NM_002890.3(RASA1):c.2528C>A:p.Thr843Asn	coding	Benign/Likely_benign
5	87379851	G	A	G87379851A	RASA1	NM_002890.3(RASA1):c.2603+1G>A	coding	Pathogenic
5	87380507	A	C	A87380507C	RASA1	NM_002890.3(RASA1):c.2604-2A>C	noncoding	Pathogenic
5	87380596	G	A	G87380596A	RASA1	NM_002890.3(RASA1):c.2690+1G>A	coding	Pathogenic
5	87383729	C	T	C87383729T	RASA1	NM_002890.3(RASA1):c.2707C>T:p.Arg903Ter	coding	Pathogenic
5	87389495	C	T	C87389495T	RASA1	NM_002890.3(RASA1):c.3028C>T:p.Arg1010Ter	coding	Pathogenic
5	87389510	G	T	G87389510T	RASA1	NM_002890.3(RASA1):c.3043G>T:p.Glu1015Ter	coding	Pathogenic
5	87390806	T	C	T87390806C	RASA1	NM_002890.3(RASA1):c.3067T>C:p.Leu1023=	coding	Benign
5	87391047	A	G	A87391047G	RASA1	NM_002890.3(RASA1):c.*164A>G	noncoding	Benign
5	87391884	T	C	T87391884C	RASA1	NM_002890.3(RASA1):c.*1001T>C	noncoding	Benign
5	87408088	T	C	T87408088C	CCNH	NM_001239.4(CCNH):c.413A>G:p.Lys138Arg	coding	Benign
5	87411304	T	C	T87411304C	CCNH	NM_001239.4(CCNH):c.160A>G:p.Met54Val	coding	Benign
5	87412712	C	A	C87412712A	CCNH	NM_001239.4(CCNH):c.83G>T:p.Arg28Leu	coding	Benign
5	88206498	C	A	C88206498A	TMEM161B	NM_001289007.2(TMEM161B):c.600G>T:p.Gly200=	coding	Benign
5	88206508	G	A	G88206508A	TMEM161B	NM_001289007.2(TMEM161B):c.599-9C>T	noncoding	Benign
5	88722588	G	C	G88722588C	MEF2C	NM_002397.5(MEF2C):c.*16C>G	noncoding	Benign
5	88728630	T	C	T88728630C	MEF2C	NM_002397.5(MEF2C):c.965-2A>G	noncoding	Pathogenic
5	88729219	G	A	G88729219A	MEF2C	NM_002397.5(MEF2C):c.963C>T:p.Thr321=	coding	Benign
5	88730196	G	A	G88730196A	MEF2C	NM_002397.5(MEF2C):c.834+15C>T	noncoding	Benign
5	88730246	C	T	C88730246T	MEF2C	NM_002397.5(MEF2C):c.811-12G>A	noncoding	Benign/Likely_benign
5	88730247	G	A	G88730247A	MEF2C	NM_002397.5(MEF2C):c.811-13C>T	noncoding	Benign
5	88731461	G	A	G88731461A	MEF2C	NM_002397.5(MEF2C):c.810+268C>T	noncoding	Benign
5	88731530	A	T	A88731530T	MEF2C	NM_002397.5(MEF2C):c.810+199T>A	noncoding	Benign
5	88731728	C	T	C88731728T	MEF2C	NM_002397.5(MEF2C):c.810+1G>A	noncoding	Pathogenic
5	88731773	G	A	G88731773A	MEF2C	NM_002397.5(MEF2C):c.766C>T:p.Arg256Ter	coding	Pathogenic
5	88731830	G	A	G88731830A	MEF2C	NM_001131005.2(MEF2C):c.703C>T:p.Gln235Ter	coding	Pathogenic
5	88731856	G	C	G88731856C	MEF2C	NM_002397.5(MEF2C):c.683C>G:p.Ser228Ter	coding	Pathogenic
5	88731897	G	A	G88731897A	MEF2C	NM_002397.5(MEF2C):c.642C>T:p.Asn214=	coding	Benign
5	88731903	T	G	T88731903G	MEF2C	NM_002397.5(MEF2C):c.638-2A>C	noncoding	Pathogenic
5	88749068	A	G	A88749068G	MEF2C	NM_001131005.2(MEF2C):c.631+2T>C	noncoding	Pathogenic
5	88749212	C	A	C88749212A	MEF2C	NM_002397.5(MEF2C):c.590-95G>T	noncoding	Benign
5	88751881	G	A	G88751881A	MEF2C	NM_002397.5(MEF2C):c.565C>T:p.Arg189Ter	coding	Pathogenic
5	88752044	C	A	C88752044A	MEF2C	NM_002397.5(MEF2C):c.403-1G>T	coding	Pathogenic
5	88752182	T	C	T88752182C	MEF2C	NM_002397.5(MEF2C):c.403-139A>G	noncoding	Benign
5	88752254	T	C	T88752254C	MEF2C	NM_002397.5(MEF2C):c.403-211A>G	noncoding	Benign
5	88761224	G	A	G88761224A	MEF2C	NM_002397.5(MEF2C):c.363C>T:p.Asn121=	coding	Benign/Likely_benign
5	88761275	G	A	G88761275A	MEF2C	NM_002397.5(MEF2C):c.312C>T:p.Asp104=	coding	Benign/Likely_benign
5	88804443	A	C	A88804443C	MEF2C	NM_002397.5(MEF2C):c.258+155T>G	noncoding	Benign
5	88804588	G	A	G88804588A	MEF2C	NM_002397.5(MEF2C):c.258+10C>T	noncoding	Benign/Likely_benign
5	88804596	A	C	A88804596C	MEF2C	NM_001131005.2(MEF2C):c.258+2T>G	noncoding	Pathogenic
5	88804676	G	A	G88804676A	MEF2C	NM_002397.5(MEF2C):c.180C>T:p.Thr60=	coding	Benign/Likely_benign
5	88804743	A	G	A88804743G	MEF2C	NM_002397.5(MEF2C):c.113T>C:p.Leu38Pro	coding	Pathogenic
5	88804743	A	T	A88804743T	MEF2C	NM_002397.5(MEF2C):c.113T>A:p.Leu38Gln	coding	Pathogenic
5	88804756	C	A	C88804756A	MEF2C	NM_001131005.2(MEF2C):c.100G>T:p.Glu34Ter	coding	Pathogenic
5	88804776	C	G	C88804776G	MEF2C	NM_002397.5(MEF2C):c.80G>C:p.Gly27Ala	coding	Pathogenic
5	88804785	C	T	C88804785T	MEF2C	NM_002397.5(MEF2C):c.71G>A:p.Arg24Lys	coding	Pathogenic/Likely_pathogenic
5	88823746	G	A	G88823746A	MEF2C	NM_001131005.2(MEF2C):c.43C>T:p.Arg15Cys	coding	Pathogenic
5	88823780	T	A	T88823780A	MEF2C	NM_002397.5(MEF2C):c.9A>T:p.Arg3Ser	coding	Pathogenic
5	88823787	A	G	A88823787G	MEF2C	NM_002397.5(MEF2C):c.2T>C:p.Met1Thr	coding	Pathogenic
5	88823830	A	G	A88823830G	MEF2C	NM_002397.5(MEF2C):c.-42T>C	noncoding	Benign
5	90519160	T	A	T90519160A	LYSMD3	NM_198273.2(LYSMD3):c.580A>T:p.Met194Leu	coding	Benign
5	90558508	A	G	A90558508G	ADGRV1	NC_000005.10:g.90558508A>G	noncoding	Benign
5	90558631	G	C	G90558631C	ADGRV1	NC_000005.10:g.90558631G>C	noncoding	Benign
5	90558798	G	A	G90558798A	ADGRV1	NM_032119.4(ADGRV1):c.-98G>A	noncoding	Benign
5	90558849	G	C	G90558849C	ADGRV1	NM_032119.4(ADGRV1):c.-47G>C	noncoding	Benign
5	90558926	T	C	T90558926C	ADGRV1	NM_032119.4(ADGRV1):c.22+9T>C	noncoding	Benign/Likely_benign
5	90558973	C	T	C90558973T	ADGRV1	NM_032119.4(ADGRV1):c.22+56C>T	noncoding	Benign
5	90617923	C	T	C90617923T	ADGRV1	NM_032119.4(ADGRV1):c.327C>T:p.Asp109=	coding	Benign
5	90618870	A	G	A90618870G	ADGRV1	NM_032119.4(ADGRV1):c.358-216A>G	noncoding	Benign
5	90619108	T	G	T90619108G	ADGRV1	NM_032119.4(ADGRV1):c.380T>G:p.Leu127Arg	coding	Benign
5	90622517	G	T	G90622517T	ADGRV1	NM_032119.4(ADGRV1):c.454-80G>T	noncoding	Benign
5	90625152	C	A	C90625152A	ADGRV1	NM_032119.4(ADGRV1):c.581C>A:p.Pro194His	coding	Benign
5	90625299	T	C	T90625299C	ADGRV1	NM_032119.4(ADGRV1):c.672+56T>C	noncoding	Benign
5	90627593	C	T	C90627593T	ADGRV1	NM_032119.4(ADGRV1):c.1055C>T:p.Pro352Leu	coding	Pathogenic
5	90627850	A	T	A90627850T	ADGRV1	NM_032119.4(ADGRV1):c.1238+74A>T	noncoding	Benign
5	90629159	C	A	C90629159A	ADGRV1	NM_032119.4(ADGRV1):c.1510-51C>A	noncoding	Benign
5	90629308	C	A	C90629308A	ADGRV1	NM_032119.4(ADGRV1):c.1608C>A:p.Tyr536Ter	coding	Pathogenic
5	90629308	C	G	C90629308G	ADGRV1	NM_032119.4(ADGRV1):c.1608C>G:p.Tyr536Ter	coding	Pathogenic
5	90629326	A	T	A90629326T	ADGRV1	NM_032119.4(ADGRV1):c.1626A>T:p.Thr542=	coding	Pathogenic
5	90629352	T	C	T90629352C	ADGRV1	NM_032119.4(ADGRV1):c.1652T>C:p.Val551Ala	coding	Benign
5	90629517	A	C	A90629517C	ADGRV1	NM_032119.4(ADGRV1):c.1817A>C:p.Asn606Thr	coding	Benign
5	90629546	G	A	G90629546A	ADGRV1	NM_032119.4(ADGRV1):c.1839+7G>A	noncoding	Benign/Likely_benign
5	90629571	G	A	G90629571A	ADGRV1	NM_032119.4(ADGRV1):c.1839+32G>A	noncoding	Benign
5	90629593	C	T	C90629593T	ADGRV1	NM_032119.4(ADGRV1):c.1839+54C>T	noncoding	Benign
5	90635275	T	C	T90635275C	ADGRV1	NM_032119.4(ADGRV1):c.2001T>C:p.Asp667=	coding	Benign
5	90642617	G	T	G90642617T	ADGRV1	NM_032119.4(ADGRV1):c.2241-19G>T	noncoding	Benign
5	90642626	A	T	A90642626T	ADGRV1	NM_032119.4(ADGRV1):c.2241-10A>T	noncoding	Benign/Likely_benign
5	90642634	A	G	A90642634G	ADGRV1	NM_032119.4(ADGRV1):c.2241-2A>G	noncoding	Pathogenic
5	90642672	T	A	T90642672A	ADGRV1	NM_032119.4(ADGRV1):c.2277T>A:p.Tyr759Ter	coding	Pathogenic/Likely_pathogenic
5	90642697	G	T	G90642697T	ADGRV1	NM_032119.4(ADGRV1):c.2302G>T:p.Glu768Ter	coding	Pathogenic
5	90642715	G	T	G90642715T	ADGRV1	NM_032119.4(ADGRV1):c.2320G>T:p.Gly774Ter	coding	Pathogenic
5	90642770	C	T	C90642770T	ADGRV1	NM_032119.4(ADGRV1):c.2367+8C>T	noncoding	Benign
5	90642886	C	T	C90642886T	ADGRV1	NM_032119.4(ADGRV1):c.2398C>T:p.Arg800Ter	coding	Pathogenic
5	90643052	T	A	T90643052A	ADGRV1	NM_032119.4(ADGRV1):c.2553+11T>A	noncoding	Benign/Likely_benign
5	90643250	G	A	G90643250A	ADGRV1	NM_032119.4(ADGRV1):c.2553+209G>A	noncoding	Benign
5	90644219	G	C	G90644219C	ADGRV1	NM_032119.4(ADGRV1):c.2734+236G>C	noncoding	Benign
5	90644672	C	G	C90644672G	ADGRV1	NM_032119.4(ADGRV1):c.2735-34C>G	noncoding	Benign
5	90644696	C	A	C90644696A	ADGRV1	NM_032119.4(ADGRV1):c.2735-10C>A	noncoding	Benign
5	90644761	G	A	G90644761A	ADGRV1	NM_032119.4(ADGRV1):c.2790G>A:p.Trp930Ter	coding	Pathogenic
5	90644835	C	A	C90644835A	ADGRV1	NM_032119.4(ADGRV1):c.2864C>A:p.Ser955Ter	coding	Pathogenic
5	90644869	G	A	G90644869A	ADGRV1	NM_032119.4(ADGRV1):c.2898G>A:p.Glu966=	coding	Pathogenic
5	90644954	A	G	A90644954G	ADGRV1	NM_032119.4(ADGRV1):c.2898+85A>G	noncoding	Benign
5	90645926	T	C	T90645926C	ADGRV1	NM_032119.4(ADGRV1):c.2899-42T>C	noncoding	Benign
5	90647616	A	G	A90647616G	ADGRV1	NM_032119.4(ADGRV1):c.3141A>G:p.Ala1047=	coding	Benign
5	90647754	G	T	G90647754T	ADGRV1	NM_032119.4(ADGRV1):c.3279G>T:p.Leu1093Phe	coding	Benign
5	90647882	G	A	G90647882A	ADGRV1	NM_032119.4(ADGRV1):c.3289+118G>A	noncoding	Benign
5	90647953	T	G	T90647953G	ADGRV1	NM_032119.4(ADGRV1):c.3289+189T>G	noncoding	Benign
5	90647957	A	T	A90647957T	ADGRV1	NM_032119.4(ADGRV1):c.3289+193A>T	noncoding	Benign
5	90647958	C	A	C90647958A	ADGRV1	NM_032119.4(ADGRV1):c.3289+194C>A	noncoding	Benign
5	90651430	C	T	C90651430T	ADGRV1	NM_032119.4(ADGRV1):c.3290-174C>T	noncoding	Benign
5	90651617	A	G	A90651617G	ADGRV1	NM_032119.4(ADGRV1):c.3303A>G:p.Val1101=	coding	Benign/Likely_benign
5	90652411	C	G	C90652411G	ADGRV1	NM_032119.4(ADGRV1):c.3482C>G:p.Ser1161Cys	coding	Benign/Likely_benign
5	90652488	A	G	A90652488G	ADGRV1	NM_032119.4(ADGRV1):c.3559A>G:p.Ile1187Val	coding	Benign/Likely_benign
5	90653530	G	A	G90653530A	ADGRV1	NM_032119.4(ADGRV1):c.3956G>A:p.Arg1319Gln	coding	Benign/Likely_benign
5	90653828	T	C	T90653828C	ADGRV1	NM_032119.4(ADGRV1):c.4254T>C:p.Tyr1418=	coding	Benign/Likely_benign
5	90653834	A	G	A90653834G	ADGRV1	NM_032119.4(ADGRV1):c.4260A>G:p.Glu1420=	coding	Benign/Likely_benign
5	90658032	C	T	C90658032T	ADGRV1	NM_032119.4(ADGRV1):c.4506C>T:p.Pro1502=	coding	Benign
5	90658297	G	T	G90658297T	ADGRV1	NM_032119.4(ADGRV1):c.4752+19G>T	noncoding	Benign
5	90658367	T	C	T90658367C	ADGRV1	NM_032119.4(ADGRV1):c.4752+89T>C	noncoding	Benign
5	90672657	T	C	T90672657C	ADGRV1	NM_032119.4(ADGRV1):c.4864T>C:p.Tyr1622His	coding	Benign/Likely_benign
5	90672809	A	T	A90672809T	ADGRV1	NM_032119.4(ADGRV1):c.4929+87A>T	noncoding	Benign
5	90672956	G	A	G90672956A	ADGRV1	NM_032119.4(ADGRV1):c.4929+234G>A	noncoding	Benign
5	90675374	G	T	G90675374T	ADGRV1	NM_032119.4(ADGRV1):c.5242G>T:p.Gly1748Ter	coding	Pathogenic
5	90675436	G	A	G90675436A	ADGRV1	NM_032119.4(ADGRV1):c.5304G>A:p.Glu1768=	coding	Benign/Likely_benign
5	90676112	A	G	A90676112G	ADGRV1	NM_032119.4(ADGRV1):c.5346A>G:p.Gly1782=	coding	Benign
5	90679268	A	G	A90679268G	ADGRV1	NM_032119.4(ADGRV1):c.5444-281A>G	noncoding	Benign
5	90679812	T	A	T90679812A	ADGRV1	NM_032119.4(ADGRV1):c.5524+183T>A	noncoding	Benign
5	90681308	C	T	C90681308T	ADGRV1	NM_032119.4(ADGRV1):c.5525-7C>T	noncoding	Benign/Likely_benign
5	90683563	T	C	T90683563C	ADGRV1	NM_032119.4(ADGRV1):c.5665-23T>C	noncoding	Benign
5	90683668	C	T	C90683668T	ADGRV1	NM_032119.4(ADGRV1):c.5747C>T:p.Thr1916Ile	coding	Benign
5	90683697	C	T	C90683697T	ADGRV1	NM_032119.4(ADGRV1):c.5776C>T:p.Gln1926Ter	coding	Pathogenic
5	90683701	C	T	C90683701T	ADGRV1	NM_032119.4(ADGRV1):c.5780C>T:p.Thr1927Met	coding	Benign
5	90683772	G	A	G90683772A	ADGRV1	NM_032119.4(ADGRV1):c.5851G>A:p.Val1951Ile	coding	Benign
5	90683874	A	G	A90683874G	ADGRV1	NM_032119.4(ADGRV1):c.5953A>G:p.Asn1985Asp	coding	Benign
5	90683881	C	T	C90683881T	ADGRV1	NM_032119.4(ADGRV1):c.5960C>T:p.Pro1987Leu	coding	Benign
5	90683933	G	T	G90683933T	ADGRV1	NM_032119.4(ADGRV1):c.6012G>T:p.Leu2004Phe	coding	Benign
5	90684016	C	T	C90684016T	ADGRV1	NM_032119.4(ADGRV1):c.6095C>T:p.Ala2032Val	coding	Benign/Likely_benign
5	90684108	T	C	T90684108C	ADGRV1	NM_032119.4(ADGRV1):c.6187T>C:p.Leu2063=	coding	Benign/Likely_benign
5	90684183	C	T	C90684183T	ADGRV1	NM_032119.4(ADGRV1):c.6262C>T:p.Gln2088Ter	coding	Pathogenic
5	90685794	C	T	C90685794T	ADGRV1	NM_032119.4(ADGRV1):c.6289C>T:p.Arg2097Cys	coding	Benign
5	90685823	G	A	G90685823A	ADGRV1	NM_032119.4(ADGRV1):c.6318G>A:p.Ala2106=	coding	Benign/Likely_benign
5	90685888	G	A	G90685888A	ADGRV1	NM_032119.4(ADGRV1):c.6383G>A:p.Arg2128Gln	coding	Benign/Likely_benign
5	90689978	T	C	T90689978C	ADGRV1	NM_032119.4(ADGRV1):c.6608T>C:p.Val2203Ala	coding	Benign/Likely_benign
5	90690065	A	G	A90690065G	ADGRV1	NM_032119.4(ADGRV1):c.6695A>G:p.Tyr2232Cys	coding	Benign
5	90690946	C	T	C90690946T	ADGRV1	NM_032119.4(ADGRV1):c.6856C>T:p.Arg2286Ter	coding	Pathogenic
5	90690991	C	T	C90690991T	ADGRV1	NM_032119.4(ADGRV1):c.6901C>T:p.Gln2301Ter	coding	Pathogenic/Likely_pathogenic
5	90692595	G	A	G90692595A	ADGRV1	NM_032119.4(ADGRV1):c.6952-10G>A	noncoding	Benign
5	90692659	C	T	C90692659T	ADGRV1	NM_032119.4(ADGRV1):c.7006C>T:p.Arg2336Ter	coding	Pathogenic
5	90692687	A	G	A90692687G	ADGRV1	NM_032119.4(ADGRV1):c.7034A>G:p.Asn2345Ser	coding	Benign
5	90692732	G	A	G90692732A	ADGRV1	NM_032119.4(ADGRV1):c.7079G>A:p.Arg2360His	coding	Benign/Likely_benign
5	90692782	C	T	C90692782T	ADGRV1	NM_032119.4(ADGRV1):c.7129C>T:p.Arg2377Ter	coding	Pathogenic
5	90692834	G	A	G90692834A	ADGRV1	NM_032119.4(ADGRV1):c.7133+48G>A	noncoding	Benign
5	90693935	C	T	C90693935T	ADGRV1	NM_032119.4(ADGRV1):c.7179C>T:p.Asp2393=	coding	Benign/Likely_benign
5	90693962	G	A	G90693962A	ADGRV1	NM_032119.4(ADGRV1):c.7206G>A:p.Glu2402=	coding	Benign
5	90693985	A	G	A90693985G	ADGRV1	NM_032119.4(ADGRV1):c.7229A>G:p.Tyr2410Cys	coding	Benign
5	90694049	C	T	C90694049T	ADGRV1	NM_032119.4(ADGRV1):c.7293C>T:p.Ala2431=	coding	Benign
5	90694162	G	A	G90694162A	ADGRV1	NM_032119.4(ADGRV1):c.7406G>A:p.Trp2469Ter	coding	Pathogenic
5	90694332	A	G	A90694332G	ADGRV1	NM_032119.4(ADGRV1):c.7576A>G:p.Ile2526Val	coding	Benign
5	90694338	C	T	C90694338T	ADGRV1	NM_032119.4(ADGRV1):c.7582C>T:p.Pro2528Ser	coding	Benign/Likely_benign
5	90694362	G	T	G90694362T	ADGRV1	NM_032119.4(ADGRV1):c.7606G>T:p.Glu2536Ter	coding	Pathogenic
5	90694507	A	G	A90694507G	ADGRV1	NM_032119.4(ADGRV1):c.7751A>G:p.Asn2584Ser	coding	Benign
5	90694569	T	G	T90694569G	ADGRV1	NM_032119.4(ADGRV1):c.7813T>G:p.Leu2605Val	coding	Benign
5	90694641	G	T	G90694641T	ADGRV1	NM_032119.4(ADGRV1):c.7885G>T:p.Gly2629Ter	coding	Pathogenic
5	90694707	C	T	C90694707T	ADGRV1	NM_032119.4(ADGRV1):c.7945+6C>T	noncoding	Benign/Likely_benign
5	90694728	C	A	C90694728A	ADGRV1	NM_032119.4(ADGRV1):c.7945+27C>A	noncoding	Benign
5	90697079	G	A	G90697079A	ADGRV1	NM_032119.4(ADGRV1):c.8088G>A:p.Leu2696=	coding	Benign/Likely_benign
5	90697124	C	T	C90697124T	ADGRV1	NM_032119.4(ADGRV1):c.8133C>T:p.Ser2711=	coding	Benign/Likely_benign
5	90697147	G	A	G90697147A	ADGRV1	NM_032119.4(ADGRV1):c.8155+1G>A	coding	Pathogenic
5	90697228	T	C	T90697228C	ADGRV1	NM_032119.4(ADGRV1):c.8155+82T>C	noncoding	Benign
5	90703681	C	T	C90703681T	ADGRV1	NM_032119.4(ADGRV1):c.8172C>T:p.Phe2724=	coding	Benign/Likely_benign
5	90704151	A	G	A90704151G	ADGRV1	NM_032119.4(ADGRV1):c.8287-238A>G	noncoding	Benign
5	90704393	C	T	C90704393T	ADGRV1	NM_032119.4(ADGRV1):c.8291C>T:p.Ser2764Leu	coding	Benign
5	90705420	G	A	G90705420A	ADGRV1	NM_032119.4(ADGRV1):c.8407G>A:p.Ala2803Thr	coding	Benign/Likely_benign
5	90705508	C	A	C90705508A	ADGRV1	NM_032119.4(ADGRV1):c.8495C>A:p.Ser2832Ter	coding	Pathogenic
5	90705551	T	G	T90705551G	ADGRV1	NM_032119.4(ADGRV1):c.8538T>G:p.Leu2846=	coding	Benign
5	90705669	C	T	C90705669T	ADGRV1	NM_032119.4(ADGRV1):c.8566+90C>T	noncoding	Benign
5	90705942	G	C	G90705942C	ADGRV1	NM_032119.4(ADGRV1):c.8567-289G>C	noncoding	Benign
5	90706171	G	T	G90706171T	ADGRV1	NM_032119.4(ADGRV1):c.8567-60G>T	noncoding	Benign
5	90706218	C	T	C90706218T	ADGRV1	NM_032119.4(ADGRV1):c.8567-13C>T	noncoding	Benign
5	90706284	C	T	C90706284T	ADGRV1	NM_032119.4(ADGRV1):c.8620C>T:p.Gln2874Ter	coding	Pathogenic
5	90706403	C	T	C90706403T	ADGRV1	NM_032119.4(ADGRV1):c.8730+9C>T	noncoding	Benign
5	90710735	T	G	T90710735G	ADGRV1	NM_032119.4(ADGRV1):c.8825-246T>G	noncoding	Benign
5	90711032	G	A	G90711032A	ADGRV1	NM_032119.4(ADGRV1):c.8876G>A:p.Arg2959Gln	coding	Benign
5	90711379	C	T	C90711379T	ADGRV1	NM_032119.4(ADGRV1):c.9042+57C>T	noncoding	Benign
5	90711471	T	A	T90711471A	ADGRV1	NM_032119.4(ADGRV1):c.9042+149T>A	noncoding	Benign
5	90716562	G	A	G90716562A	ADGRV1	NM_032119.4(ADGRV1):c.9280G>A:p.Val3094Ile	coding	Benign
5	90716648	A	G	A90716648G	ADGRV1	NM_032119.4(ADGRV1):c.9366A>G:p.Thr3122=	coding	Benign/Likely_benign
5	90716797	A	T	A90716797T	ADGRV1	NM_032119.4(ADGRV1):c.9447+68A>T	noncoding	Benign
5	90716886	G	A	G90716886A	ADGRV1	NM_032119.4(ADGRV1):c.9447+157G>A	noncoding	Benign
5	90719975	C	T	C90719975T	ADGRV1	NM_032119.4(ADGRV1):c.9448-73C>T	noncoding	Benign
5	90720207	T	A	T90720207A	ADGRV1	NM_032119.4(ADGRV1):c.9607T>A:p.Ser3203Thr	coding	Benign/Likely_benign
5	90720312	A	G	A90720312G	ADGRV1	NM_032119.4(ADGRV1):c.9623+89A>G	noncoding	Benign
5	90720990	C	T	C90720990T	ADGRV1	NM_032119.4(ADGRV1):c.9679C>T:p.Arg3227Ter	coding	Pathogenic
5	90721054	G	A	G90721054A	ADGRV1	NM_032119.4(ADGRV1):c.9743G>A:p.Gly3248Asp	coding	Benign
5	90721061	T	C	T90721061C	ADGRV1	NM_032119.4(ADGRV1):c.9748+2T>C	noncoding	Pathogenic
5	90724854	C	T	C90724854T	ADGRV1	NM_032119.4(ADGRV1):c.9771C>T:p.Ser3257=	coding	Benign
5	90724960	C	T	C90724960T	ADGRV1	NM_032119.4(ADGRV1):c.9877C>T:p.Arg3293Ter	coding	Pathogenic/Likely_pathogenic
5	90724990	G	A	G90724990A	ADGRV1	NM_032119.4(ADGRV1):c.9906+1G>A	coding	Pathogenic
5	90725051	A	C	A90725051C	ADGRV1	NM_032119.4(ADGRV1):c.9907-35A>C	noncoding	Benign
5	90725106	T	G	T90725106G	ADGRV1	NM_032119.4(ADGRV1):c.9927T>G:p.Pro3309=	coding	Benign
5	90725218	T	C	T90725218C	ADGRV1	NM_032119.4(ADGRV1):c.10039T>C:p.Phe3347Leu	coding	Benign
5	90725475	A	G	A90725475G	ADGRV1	NM_032119.4(ADGRV1):c.10054-74A>G	noncoding	Benign
5	90725621	A	G	A90725621G	ADGRV1	NM_032119.4(ADGRV1):c.10126A>G:p.Ile3376Val	coding	Benign/Likely_benign
5	90725874	C	T	C90725874T	ADGRV1	NM_032119.4(ADGRV1):c.10161+218C>T	noncoding	Benign
5	90728460	T	C	T90728460C	ADGRV1	NM_032119.4(ADGRV1):c.10162-209T>C	noncoding	Benign
5	90728720	C	T	C90728720T	ADGRV1	NM_032119.4(ADGRV1):c.10213C>T:p.Arg3405Ter	coding	Pathogenic
5	90728846	G	A	G90728846A	ADGRV1	NM_032119.4(ADGRV1):c.10339G>A:p.Glu3447Lys	coding	Benign
5	90728918	G	A	G90728918A	ADGRV1	NM_032119.4(ADGRV1):c.10411G>A:p.Glu3471Lys	coding	Benign
5	90728933	G	A	G90728933A	ADGRV1	NM_032119.4(ADGRV1):c.10426G>A:p.Gly3476Arg	coding	Pathogenic
5	90729673	G	A	G90729673A	ADGRV1	NM_032119.4(ADGRV1):c.10458G>A:p.Trp3486Ter	coding	Pathogenic
5	90745073	T	C	T90745073C	ADGRV1	NM_032119.4(ADGRV1):c.10577T>C:p.Met3526Thr	coding	Benign/Likely_benign
5	90745103	G	A	G90745103A	ADGRV1	NM_032119.4(ADGRV1):c.10607G>A:p.Arg3536His	coding	Benign
5	90745274	A	G	A90745274G	ADGRV1	NM_032119.4(ADGRV1):c.10769+9A>G	noncoding	Benign/Likely_benign
5	90745344	G	A	G90745344A	ADGRV1	NM_032119.4(ADGRV1):c.10769+79G>A	noncoding	Benign
5	90745693	A	G	A90745693G	ADGRV1	NM_032119.4(ADGRV1):c.10872A>G:p.Gln3624=	coding	Benign
5	90750607	C	T	C90750607T	ADGRV1	NM_032119.4(ADGRV1):c.11031C>T:p.Asn3677=	coding	Benign/Likely_benign
5	90750691	A	T	A90750691T	ADGRV1	NM_032119.4(ADGRV1):c.11115A>T:p.Ser3705=	coding	Benign/Likely_benign
5	90753421	A	G	A90753421G	ADGRV1	NM_032119.4(ADGRV1):c.11122-153A>G	noncoding	Benign
5	90753550	C	T	C90753550T	ADGRV1	NM_032119.4(ADGRV1):c.11122-24C>T	noncoding	Benign
5	90753572	A	G	A90753572G	ADGRV1	NM_032119.4(ADGRV1):c.11122-2A>G	noncoding	Pathogenic
5	90753573	G	C	G90753573C	ADGRV1	NM_032119.4(ADGRV1):c.11122-1G>C	noncoding	Pathogenic
5	90753640	G	T	G90753640T	ADGRV1	NM_032119.4(ADGRV1):c.11188G>T:p.Glu3730Ter	coding	Pathogenic
5	90753705	C	G	C90753705G	ADGRV1	NM_032119.4(ADGRV1):c.11253C>G:p.Tyr3751Ter	coding	Pathogenic
5	90755015	C	T	C90755015T	ADGRV1	NM_032119.4(ADGRV1):c.11410C>T:p.Arg3804Ter	coding	Pathogenic
5	90755077	G	A	G90755077A	ADGRV1	NM_032119.4(ADGRV1):c.11472G>A:p.Leu3824=	coding	Benign
5	90755086	T	C	T90755086C	ADGRV1	NM_032119.4(ADGRV1):c.11481T>C:p.Asp3827=	coding	Benign
5	90755167	C	T	C90755167T	ADGRV1	NM_032119.4(ADGRV1):c.11562C>T:p.Ala3854=	coding	Benign/Likely_benign
5	90756472	G	A	G90756472A	ADGRV1	NM_032119.4(ADGRV1):c.11599G>A:p.Glu3867Lys	coding	Benign
5	90756555	C	T	C90756555T	ADGRV1	NM_032119.4(ADGRV1):c.11682C>T:p.Pro3894=	coding	Benign
5	90756660	A	G	A90756660G	ADGRV1	NM_032119.4(ADGRV1):c.11757+30A>G	noncoding	Benign
5	90757239	A	G	A90757239G	ADGRV1	NM_032119.4(ADGRV1):c.11940+78A>G	noncoding	Benign
5	90759313	C	A	C90759313A	ADGRV1	NM_032119.4(ADGRV1):c.11941-96C>A	noncoding	Benign
5	90763184	T	A	T90763184A	ADGRV1	NM_032119.4(ADGRV1):c.12121-121T>A	noncoding	Benign
5	90763379	A	G	A90763379G	ADGRV1	NM_032119.4(ADGRV1):c.12195A>G:p.Gly4065=	coding	Benign
5	90777573	A	G	A90777573G	ADGRV1	NM_032119.4(ADGRV1):c.12528-332A>G	noncoding	Benign
5	90777969	G	A	G90777969A	ADGRV1	NM_032119.4(ADGRV1):c.12592G>A:p.Val4198Met	coding	Benign
5	90778008	C	T	C90778008T	ADGRV1	NM_032119.4(ADGRV1):c.12631C>T:p.Arg4211Ter	coding	Pathogenic
5	90778280	G	T	G90778280T	ADGRV1	NM_032119.4(ADGRV1):c.12667-147G>T	noncoding	Benign
5	90778558	T	A	T90778558A	ADGRV1	NM_032119.4(ADGRV1):c.12798T>A:p.Tyr4266Ter	coding	Pathogenic
5	90778583	C	T	C90778583T	ADGRV1	NM_032119.4(ADGRV1):c.12823C>T:p.Gln4275Ter	coding	Pathogenic
5	90778829	A	T	A90778829T	ADGRV1	NM_032119.4(ADGRV1):c.12850-36A>T	noncoding	Benign
5	90778910	C	T	C90778910T	ADGRV1	NM_032119.4(ADGRV1):c.12895C>T:p.Arg4299Ter	coding	Pathogenic
5	90778942	G	A	G90778942A	ADGRV1	NM_032119.4(ADGRV1):c.12927G>A:p.Ala4309=	coding	Benign
5	90779052	C	T	C90779052T	ADGRV1	NM_032119.4(ADGRV1):c.13037C>T:p.Pro4346Leu	coding	Benign/Likely_benign
5	90779243	C	G	C90779243G	ADGRV1	NM_032119.4(ADGRV1):c.13082+146C>G	noncoding	Benign
5	90783117	A	G	A90783117G	ADGRV1	NM_032119.4(ADGRV1):c.13232-7A>G	noncoding	Benign
5	90783123	G	A	G90783123A	ADGRV1	NM_032119.4(ADGRV1):c.13232-1G>A	noncoding	Pathogenic
5	90783179	T	C	T90783179C	ADGRV1	NM_032119.4(ADGRV1):c.13287T>C:p.Tyr4429=	coding	Benign
5	90783994	C	T	C90783994T	ADGRV1	NM_032119.4(ADGRV1):c.13590C>T:p.Pro4530=	coding	Benign/Likely_benign
5	90784003	A	G	A90784003G	ADGRV1	NM_032119.4(ADGRV1):c.13599A>G:p.Thr4533=	coding	Benign
5	90784155	C	T	C90784155T	ADGRV1	NM_032119.4(ADGRV1):c.13653+98C>T	noncoding	Benign
5	90788066	C	T	C90788066T	ADGRV1	NM_032119.4(ADGRV1):c.13654-5C>T	noncoding	Benign/Likely_benign
5	90789837	T	C	T90789837C	ADGRV1	NM_032119.4(ADGRV1):c.14029T>C:p.Phe4677Leu	coding	Benign
5	90791144	C	G	C90791144G	ADGRV1	NM_032119.4(ADGRV1):c.14315C>G:p.Ser4772Ter	coding	Pathogenic
5	90791148	A	G	A90791148G	ADGRV1	NM_032119.4(ADGRV1):c.14319A>G:p.Ile4773Met	coding	Benign
5	90791344	C	G	C90791344G	ADGRV1	NM_032119.4(ADGRV1):c.14515C>G:p.Gln4839Glu	coding	Benign/Likely_benign
5	90791364	A	G	A90791364G	ADGRV1	NM_032119.4(ADGRV1):c.14517+18A>G	noncoding	Benign
5	90802875	A	G	A90802875G	ADGRV1	NM_032119.4(ADGRV1):c.14654A>G:p.Asn4885Ser	coding	Benign
5	90807650	G	A	G90807650A	ADGRV1	NM_032119.4(ADGRV1):c.14885G>A:p.Trp4962Ter	coding	Pathogenic
5	90807670	T	C	T90807670C	ADGRV1	NM_032119.4(ADGRV1):c.14905T>C:p.Trp4969Arg	coding	Benign
5	90807708	G	C	G90807708C	ADGRV1	NM_032119.4(ADGRV1):c.14943G>C:p.Gln4981His	coding	Benign/Likely_benign
5	90807968	T	G	T90807968G	ADGRV1	NM_032119.4(ADGRV1):c.14972+231T>G	noncoding	Benign
5	90810231	A	G	A90810231G	ADGRV1	NM_032119.4(ADGRV1):c.14973-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	90810603	C	T	C90810603T	ADGRV1	NM_032119.4(ADGRV1):c.15343C>T:p.Leu5115=	coding	Benign/Likely_benign
5	90811291	A	G	A90811291G	ADGRV1	NM_032119.4(ADGRV1):c.16031A>G:p.Glu5344Gly	coding	Benign
5	90815654	G	T	G90815654T	ADGRV1	NM_032119.4(ADGRV1):c.16114G>T:p.Glu5372Ter	coding	Pathogenic
5	90815704	A	G	A90815704G	ADGRV1	NM_032119.4(ADGRV1):c.16164A>G:p.Arg5388=	coding	Benign
5	90815883	T	C	T90815883C	ADGRV1	NM_032119.4(ADGRV1):c.16196+147T>C	noncoding	Benign
5	90823453	C	T	C90823453T	ADGRV1	NM_032119.4(ADGRV1):c.16225C>T:p.Arg5409Ter	coding	Pathogenic
5	90823476	C	T	C90823476T	ADGRV1	NM_032119.4(ADGRV1):c.16248C>T:p.Val5416=	coding	Benign
5	90823507	G	A	G90823507A	ADGRV1	NM_032119.4(ADGRV1):c.16279G>A:p.Val5427Met	coding	Benign
5	90828950	C	T	C90828950T	ADGRV1	NM_032119.4(ADGRV1):c.16375C>T:p.Gln5459Ter	coding	Pathogenic
5	90840807	C	T	C90840807T	ADGRV1	NM_032119.4(ADGRV1):c.16841C>T:p.Thr5614Ile	coding	Benign
5	90840915	C	G	C90840915G	ADGRV1	NM_032119.4(ADGRV1):c.16949C>G:p.Thr5650Ser	coding	Benign
5	90848679	C	T	C90848679T	ADGRV1	NM_032119.4(ADGRV1):c.17062C>T:p.Arg5688Ter	coding	Pathogenic
5	90848817	G	T	G90848817T	ADGRV1	NM_032119.4(ADGRV1):c.17200G>T:p.Glu5734Ter	coding	Pathogenic
5	90853393	C	T	C90853393T	ADGRV1	NM_032119.4(ADGRV1):c.17314C>T:p.Arg5772Ter	coding	Pathogenic
5	90854411	A	G	A90854411G	ADGRV1	NM_032119.4(ADGRV1):c.17594+210A>G	noncoding	Benign
5	90855772	G	A	G90855772A	ADGRV1	NM_032119.4(ADGRV1):c.17626G>A:p.Val5876Ile	coding	Benign
5	90855881	C	G	C90855881G	ADGRV1	NM_032119.4(ADGRV1):c.17735C>G:p.Ser5912Cys	coding	Benign/Likely_benign
5	90863752	T	C	T90863752C	ADGRV1	NM_032119.4(ADGRV1):c.17756-5T>C	noncoding	Benign/Likely_benign
5	90985343	G	C	G90985343C	ADGRV1	NM_032119.4(ADGRV1):c.17974-1G>C	noncoding	Pathogenic
5	90985501	A	G	A90985501G	ADGRV1	NM_032119.4(ADGRV1):c.18131A>G:p.Tyr6044Cys	coding	Pathogenic
5	91072779	C	T	C91072779T	ADGRV1	NM_032119.4(ADGRV1):c.18310+175C>T	noncoding	Benign
5	91150014	T	C	T91150014C	ADGRV1	NM_032119.4(ADGRV1):c.18433-16T>C	noncoding	Benign
5	91150067	A	G	A91150067G	ADGRV1	NM_032119.4(ADGRV1):c.18470A>G:p.Asn6157Ser	coding	Benign/Likely_benign
5	91150072	A	G	A91150072G	ADGRV1	NM_032119.4(ADGRV1):c.18475A>G:p.Met6159Val	coding	Benign
5	91153214	T	C	T91153214C	ADGRV1	NM_032119.4(ADGRV1):c.18625-7T>C	noncoding	Benign
5	91153337	G	A	G91153337A	ADGRV1	NM_032119.4(ADGRV1):c.18741G>A:p.Gly6247=	coding	Benign
5	91163769	A	G	A91163769G	ADGRV1	NM_032119.4(ADGRV1):c.18803-13A>G	noncoding	Benign/Likely_benign
5	91163778	G	T	G91163778T	ADGRV1	NM_032119.4(ADGRV1):c.18803-4G>T	noncoding	Benign/Likely_benign
5	91163960	A	G	A91163960G	ADGRV1	NM_032119.4(ADGRV1):c.*60A>G	noncoding	Benign
5	91376678	T	C	T91376678C	ARRDC3	NM_020801.4(ARRDC3):c.453A>G:p.Lys151=	coding	Benign
5	93585024	A	G	A93585024G	NR2F1	NM_005654.6(NR2F1):c.1A>G:p.Met1Val	coding	Pathogenic
5	93585025	T	C	T93585025C	NR2F1	NM_005654.6(NR2F1):c.2T>C:p.Met1Thr	coding	Pathogenic
5	93585185	C	A	C93585185A	NR2F1	NM_005654.6(NR2F1):c.162C>A:p.Thr54=	coding	Benign
5	93585192	C	T	C93585192T	NR2F1	NM_005654.6(NR2F1):c.169C>T:p.Gln57Ter	coding	Pathogenic
5	93585285	G	A	G93585285A	NR2F1	NM_005654.6(NR2F1):c.262G>A:p.Val88Met	coding	Pathogenic
5	93585313	A	C	A93585313C	NR2F1	NM_005654.6(NR2F1):c.290A>C:p.His97Pro	coding	Pathogenic
5	93585362	C	A	C93585362A	NR2F1	NM_005654.6(NR2F1):c.339C>A:p.Ser113Arg	coding	Pathogenic/Likely_pathogenic
5	93585367	G	C	G93585367C	NR2F1	NM_005654.6(NR2F1):c.344G>C:p.Arg115Pro	coding	Pathogenic/Likely_pathogenic
5	93585376	T	G	T93585376G	NR2F1	NM_005654.6(NR2F1):c.353T>G:p.Leu118Ter	coding	Pathogenic
5	93585426	C	T	C93585426T	NR2F1	NM_005654.6(NR2F1):c.403C>T:p.Arg135Cys	coding	Pathogenic
5	93585436	G	A	G93585436A	NR2F1	NM_005654.6(NR2F1):c.413G>A:p.Cys138Tyr	coding	Pathogenic
5	93585440	A	T	A93585440T	NR2F1	NM_005654.6(NR2F1):c.417A>T:p.Gln139His	coding	Pathogenic
5	93585447	C	T	C93585447T	NR2F1	NM_005654.6(NR2F1):c.424C>T:p.Arg142Cys	coding	Pathogenic
5	93585448	G	A	G93585448A	NR2F1	NM_005654.6(NR2F1):c.425G>A:p.Arg142His	coding	Pathogenic/Likely_pathogenic
5	93593851	C	T	C93593851T	NR2F1	NM_005654.6(NR2F1):c.*9C>T	noncoding	Benign
5	94462460	T	A	T94462460A	KIAA0825	NM_001145678.2(KIAA0825):c.2173A>T:p.Lys725Ter	coding	Pathogenic/Likely_pathogenic
5	94629103	T	C	T94629103C	SLF1	NM_032290.4(SLF1):c.126T>C:p.Asn42=	coding	Benign
5	94688530	G	C	G94688530C	SLF1	NM_032290.4(SLF1):c.2146G>C:p.Gly716Arg	coding	Benign
5	94695093	A	G	A94695093G	SLF1	NM_032290.4(SLF1):c.2958A>G:p.Leu986=	coding	Benign
5	94779158	C	T	C94779158T	MCTP1	NM_024717.5(MCTP1):c.2562G>A:p.Val854=	coding	Benign
5	94888886	G	A	G94888886A	MCTP1	NM_024717.5(MCTP1):c.1926C>T:p.Asp642=	coding	Benign
5	94894721	T	C	T94894721C	MCTP1	NM_024717.5(MCTP1):c.1767A>G:p.Thr589=	coding	Benign
5	95467865	C	G	C95467865G	TTC37	NM_014639.3(TTC37):c.4620+1G>C	noncoding	Pathogenic
5	95469848	C	T	C95469848T	TTC37	NM_014639.4(TTC37):c.4428G>A:p.Lys1476=	coding	Benign
5	95478311	T	C	T95478311C	TTC37	NM_014639.3(TTC37):c.4344A>G:p.Leu1448=	coding	Benign/Likely_benign
5	95482532	C	T	C95482532T	TTC37	NM_014639.4(TTC37):c.4153G>A:p.Val1385Ile	coding	Benign
5	95484837	C	T	C95484837T	TTC37	NM_014639.3(TTC37):c.3940G>A:p.Glu1314Lys	coding	Benign/Likely_benign
5	95498399	C	T	C95498399T	TTC37	NM_014639.4(TTC37):c.3534G>A:p.Val1178=	coding	Benign
5	95506947	C	T	C95506947T	TTC37	NM_014639.3(TTC37):c.3079G>A:p.Gly1027Ser	coding	Benign/Likely_benign
5	95512589	C	T	C95512589T	TTC37	NM_014639.3(TTC37):c.2808G>A:p.Trp936Ter	coding	Pathogenic
5	95514896	G	A	G95514896A	TTC37	NM_014639.4(TTC37):c.2662C>T:p.Gln888Ter	coding	Pathogenic
5	95516388	A	C	A95516388C	TTC37	NM_014639.4(TTC37):c.2599T>G:p.Leu867Val	coding	Benign
5	95516419	A	G	A95516419G	TTC37	NM_014639.3(TTC37):c.2578-10T>C	noncoding	Benign/Likely_benign
5	95516671	C	G	C95516671G	TTC37	NM_014639.3(TTC37):c.2515+1G>C	noncoding	Pathogenic
5	95517186	G	A	G95517186A	TTC37	NM_014639.3(TTC37):c.2251C>T:p.Gln751Ter	coding	Pathogenic
5	95522217	T	C	T95522217C	TTC37	NM_014639.3(TTC37):c.1848A>G:p.Thr616=	coding	Benign/Likely_benign
5	95522300	C	T	C95522300T	TTC37	NM_014639.3(TTC37):c.1765G>A:p.Ala589Thr	coding	Benign/Likely_benign
5	95524490	G	C	G95524490C	TTC37	NM_014639.3(TTC37):c.1427C>G:p.Thr476Arg	coding	Benign
5	95524525	G	A	G95524525A	TTC37	NM_014639.4(TTC37):c.1392C>T:p.Tyr464=	coding	Benign
5	95524601	C	A	C95524601A	TTC37	NM_014639.4(TTC37):c.1326-10G>T	noncoding	Benign
5	95537100	C	T	C95537100T	TTC37	NM_014639.3(TTC37):c.585G>A:p.Lys195=	coding	Benign
5	95540794	G	A	G95540794A	TTC37	NM_014639.3(TTC37):c.439C>T:p.Gln147Ter	coding	Pathogenic
5	95540824	G	A	G95540824A	TTC37	NM_014639.3(TTC37):c.409C>T:p.Arg137Ter	coding	Pathogenic
5	95543288	C	T	C95543288T	TTC37	NM_014639.3(TTC37):c.130G>A:p.Val44Ile	coding	Benign/Likely_benign
5	96392736	A	G	A96392736G	PCSK1	NM_000439.5(PCSK1):c.*265T>C	noncoding	Benign/Likely_benign
5	96393194	C	G	C96393194G	PCSK1	NM_000439.5(PCSK1):c.2069G>C:p.Ser690Thr	coding	Benign/Likely_benign
5	96393270	G	C	G96393270C	PCSK1	NM_000439.5(PCSK1):c.1993C>G:p.Gln665Glu	coding	Benign/Likely_benign
5	96397408	A	G	A96397408G	PCSK1	NM_000439.5(PCSK1):c.1650T>C:p.Asn550=	coding	Benign/Likely_benign
5	96399020	C	T	C96399020T	PCSK1	NM_000439.5(PCSK1):c.1447G>A:p.Gly483Arg	coding	Pathogenic
5	96410949	G	A	G96410949A	PCSK1	NM_000439.5(PCSK1):c.920C>T:p.Ser307Leu	coding	Pathogenic
5	96412452	C	A	C96412452A	PCSK1	NM_000439.5(PCSK1):c.748G>T:p.Glu250Ter	coding	Pathogenic
5	96416081	T	C	T96416081C	PCSK1	NM_000439.5(PCSK1):c.661A>G:p.Asn221Asp	coding	Benign
5	96421876	T	G	T96421876G	PCSK1	NM_000439.5(PCSK1):c.620+4A>C	noncoding	Pathogenic
5	96433143	A	G	A96433143G	PCSK1	NM_000439.5(PCSK1):c.-101T>C	noncoding	Benign/Likely_benign
5	96727539	T	C	T96727539C	CAST	NM_001750.7(CAST):c.378+9T>C	noncoding	Benign
5	96729723	A	T	A96729723T	CAST	NM_001190442.1(CAST):c.298A>T:p.Lys100Ter	coding	Pathogenic
5	96736204	G	T	G96736204T	CAST	NM_001750.7(CAST):c.663G>T:p.Val221=	coding	Benign
5	96736234	G	A	G96736234A	CAST	NM_001750.7(CAST):c.693G>A:p.Ser231=	coding	Benign
5	96746348	G	C	G96746348C	CAST	NM_001750.7(CAST):c.1207G>C:p.Ala403Pro	coding	Benign
5	96746383	T	A	T96746383A	CAST	NM_001750.7(CAST):c.1242T>A:p.Asp414Glu	coding	Benign
5	96746424	C	T	C96746424T	CAST	NM_001750.7(CAST):c.1283C>T:p.Thr428Met	coding	Benign
5	96762275	A	G	A96762275G	CAST	NM_001750.7(CAST):c.1835A>G:p.Lys612Arg	coding	Benign
5	96762299	C	T	C96762299T	CAST	NM_001750.7(CAST):c.1859C>T:p.Ala620Val	coding	Benign
5	96765218	C	T	C96765218T	CAST	NM_001750.7(CAST):c.1933-3C>T	noncoding	Benign
5	96766118	C	T	C96766118T	CAST	NM_001750.7(CAST):c.2103C>T:p.Tyr701=	coding	Benign
5	96767912	T	G	T96767912G	CAST	NM_001750.7(CAST):c.2181T>G:p.Pro727=	coding	Benign
5	96776435	G	A	G96776435A	ERAP1	NM_001040458.3(ERAP1):c.2787C>T:p.Ile929=	coding	Benign
5	96781684	C	T	C96781684T	ERAP1	NM_001040458.3(ERAP1):c.2447+9G>A	noncoding	Benign
5	96781773	A	G	A96781773G	ERAP1	NM_001040458.3(ERAP1):c.2367T>C:p.Tyr789=	coding	Benign
5	96783107	G	A	G96783107A	ERAP1	NM_001040458.3(ERAP1):c.2229C>T:p.Cys743=	coding	Benign
5	96785793	G	A	G96785793A	ERAP1	NM_001040458.3(ERAP1):c.1938C>T:p.Leu646=	coding	Benign
5	96785968	A	C	A96785968C	ERAP1	NM_001040458.3(ERAP1):c.1763T>G:p.Val588Gly	coding	Benign
5	96788593	C	G	C96788593G	ERAP1	NM_001040458.3(ERAP1):c.1617G>C:p.Gly539=	coding	Benign
5	96792163	G	A	G96792163A	ERAP1	NM_001040458.3(ERAP1):c.1218C>T:p.Asp406=	coding	Benign
5	96800974	G	C	G96800974C	ERAP1	NM_001040458.3(ERAP1):c.551C>G:p.Pro184Arg	coding	Benign
5	96803570	G	A	G96803570A	ERAP1	NM_001040458.3(ERAP1):c.357C>T:p.Pro119=	coding	Benign
5	96803723	A	G	A96803723G	ERAP1	NM_001040458.3(ERAP1):c.204T>C:p.His68=	coding	Benign
5	96803756	G	A	G96803756A	ERAP1	NM_001040458.3(ERAP1):c.171C>T:p.Tyr57=	coding	Benign
5	96803873	G	A	G96803873A	ERAP1	NM_001040458.3(ERAP1):c.54C>T:p.Ser18=	coding	Benign
5	96886656	T	C	T96886656C	ERAP2	NM_022350.5(ERAP2):c.716T>C:p.Val239Ala	coding	Benign
5	96895352	T	G	T96895352G	ERAP2	NM_022350.5(ERAP2):c.1232T>G:p.Leu411Arg	coding	Benign
5	96896395	G	A	G96896395A	ERAP2	NM_022350.5(ERAP2):c.1262G>A:p.Cys421Tyr	coding	Benign
5	96896421	T	C	T96896421C	ERAP2	NM_022350.5(ERAP2):c.1288T>C:p.Leu430=	coding	Benign
5	96915724	C	T	C96915724T	ERAP2	NM_022350.5(ERAP2):c.2694C>T:p.Ile898=	coding	Benign
5	97163200	C	T	C97163200T	RIOK2	NM_018343.3(RIOK2):c.1520G>A:p.Arg507His	coding	Benign
5	97163231	A	G	A97163231G	RIOK2	NM_018343.3(RIOK2):c.1495-6T>C	noncoding	Benign
5	97171313	C	T	C97171313T	RIOK2	NM_018343.3(RIOK2):c.672G>A:p.Leu224=	coding	Benign
5	97177183	T	C	T97177183C	RIOK2	NM_018343.3(RIOK2):c.431A>G:p.His144Arg	coding	Benign
5	98856390	C	T	C98856390T	CHD1	NM_001270.2(CHD1):c.5123G>A:p.Arg1708Gln	coding	Pathogenic
5	98856658	A	G	A98856658G	CHD1	NM_001270.3(CHD1):c.4855T>C:p.Leu1619=	coding	Benign
5	98892699	T	A	T98892699A	CHD1	NM_001270.3(CHD1):c.2006A>T:p.Glu669Val	coding	Benign
5	98893554	C	T	C98893554T	CHD1	NM_001270.2(CHD1):c.1853G>A:p.Arg618Gln	coding	Pathogenic
5	98897307	C	T	C98897307T	CHD1	NM_001270.2(CHD1):c.1379G>A:p.Arg460Lys	coding	Pathogenic
5	98897315	T	C	T98897315C	CHD1	NM_001270.3(CHD1):c.1371A>G:p.Leu457=	coding	Benign
5	102260309	T	A	T102260309A	SLCO4C1	NM_180991.5(SLCO4C1):c.1032A>T:p.Glu344Asp	coding	Benign
5	102373370	T	C	T102373370C	SLCO6A1	NM_173488.5(SLCO6A1):c.2142A>G:p.Lys714=	coding	Benign
5	102399669	C	G	C102399669G	SLCO6A1	NM_173488.5(SLCO6A1):c.1700G>C:p.Arg567Thr	coding	Benign
5	102458463	A	G	A102458463G	SLCO6A1	NM_173488.5(SLCO6A1):c.1050T>C:p.Arg350=	coding	Benign
5	102480184	T	C	T102480184C	SLCO6A1	NM_173488.5(SLCO6A1):c.609A>G:p.Gly203=	coding	Benign
5	102867275	T	A	T102867275A	PAM	NM_000919.3(PAM):c.92T>A:p.Phe31Tyr	coding	Benign
5	102867328	G	C	G102867328C	PAM	NM_000919.3(PAM):c.145G>C:p.Val49Leu	coding	Benign
5	102926580	T	C	T102926580C	PAM	NM_000919.3(PAM):c.443-5T>C	noncoding	Benign
5	102946885	C	T	C102946885T	PAM	NM_000919.3(PAM):c.575C>T:p.Pro192Leu	coding	Benign
5	102960019	C	T	C102960019T	PAM	NM_000919.3(PAM):c.1050C>T:p.Pro350=	coding	Benign
5	102974426	A	C	A102974426C	PAM	NM_000919.3(PAM):c.1473A>C:p.Glu491Asp	coding	Benign
5	103006796	A	T	A103006796T	PAM	NM_000919.3(PAM):c.1804-5A>T	noncoding	Benign
5	103006944	T	C	T103006944C	PAM	NM_000919.3(PAM):c.1947T>C:p.Asp649=	coding	Benign
5	103028201	C	T	C103028201T	PAM	NM_000919.3(PAM):c.2709C>T:p.Leu903=	coding	Benign
5	103173953	G	A	G103173953A	PPIP5K2	NM_001276277.3(PPIP5K2):c.2510G>A:p.Arg837His	coding	Pathogenic
5	103194967	A	G	A103194967G	PPIP5K2	NM_001276277.3(PPIP5K2):c.3561A>G:p.Ala1187=	coding	Benign
5	103201547	T	A	T103201547A	PPIP5K2	NM_001276277.3(PPIP5K2):c.3645T>A:p.Val1215=	coding	Benign
5	108224214	T	C	T108224214C	FBXL17	NM_001163315.3(FBXL17):c.1521A>G:p.Ser507=	coding	Benign
5	108381387	C	T	C108381387T	FBXL17	NM_001163315.3(FBXL17):c.305G>A:p.Arg102Gln	coding	Benign
5	108798371	T	C	T108798371C	FER	NM_005246.4(FER):c.189T>C:p.Tyr63=	coding	Benign
5	108897661	T	C	T108897661C	FER	NM_005246.4(FER):c.1049T>C:p.Ile350Thr	coding	Benign
5	108959248	T	C	T108959248C	FER	NM_005246.4(FER):c.1557T>C:p.Thr519=	coding	Benign
5	109186231	C	T	C109186231T	FER	NM_005246.4(FER):c.2235C>T:p.Ser745=	coding	Benign
5	109842319	T	A	T109842319A	MAN2A1	NM_002372.3(MAN2A1):c.2567-9T>A	noncoding	Benign
5	110739266	C	T	C110739266T	SLC25A46	NM_138773.4(SLC25A46):c.147C>T:p.Ile49=	coding	Benign
5	110739430	A	T	A110739430T	SLC25A46	NM_138773.4(SLC25A46):c.283+28A>T	noncoding	Benign
5	110739713	C	A	C110739713A	SLC25A46	NM_138773.4(SLC25A46):c.283+311C>A	noncoding	Benign
5	110743749	T	C	T110743749C	SLC25A46	NM_138773.4(SLC25A46):c.346T>C:p.Leu116=	coding	Benign
5	110743781	A	G	A110743781G	SLC25A46	NM_138773.4(SLC25A46):c.378A>G:p.Gln126=	coding	Benign
5	110743799	T	G	T110743799G	SLC25A46	NM_138773.4(SLC25A46):c.384+12T>G	noncoding	Benign
5	110744030	G	A	G110744030A	SLC25A46	NM_138773.4(SLC25A46):c.384+243G>A	noncoding	Benign
5	110744067	G	C	G110744067C	SLC25A46	NM_138773.4(SLC25A46):c.384+280G>C	noncoding	Benign
5	110746297	T	G	T110746297G	SLC25A46	NM_138773.4(SLC25A46):c.413T>G:p.Leu138Arg	coding	Pathogenic
5	110746309	C	T	C110746309T	SLC25A46	NM_138773.4(SLC25A46):c.425C>T:p.Thr142Ile	coding	Pathogenic
5	110746313	C	T	C110746313T	SLC25A46	NM_138773.4(SLC25A46):c.429C>T:p.Val143=	coding	Benign
5	110746347	G	A	G110746347A	SLC25A46	NM_138773.4(SLC25A46):c.462+1G>A	coding	Pathogenic
5	110746452	T	C	T110746452C	SLC25A46	NM_138773.4(SLC25A46):c.462+106T>C	noncoding	Benign
5	110748269	A	T	A110748269T	SLC25A46	NM_138773.4(SLC25A46):c.563+6A>T	noncoding	Benign
5	110755358	A	G	A110755358G	SLC25A46	NM_138773.4(SLC25A46):c.564-107A>G	noncoding	Benign
5	110756460	A	G	A110756460G	SLC25A46	NM_138773.4(SLC25A46):c.621-242A>G	noncoding	Benign
5	110756711	C	T	C110756711T	SLC25A46	NM_138773.4(SLC25A46):c.630C>T:p.Tyr210=	coding	Benign
5	110756831	A	G	A110756831G	SLC25A46	NM_138773.4(SLC25A46):c.678+72A>G	noncoding	Benign
5	110760945	T	A	T110760945A	SLC25A46	NM_138773.4(SLC25A46):c.679-259T>A	noncoding	Benign
5	110761239	G	A	G110761239A	SLC25A46	NM_138773.4(SLC25A46):c.714G>A:p.Glu238=	coding	Benign
5	110761523	C	T	C110761523T	SLC25A46	NM_138773.4(SLC25A46):c.998C>T:p.Pro333Leu	coding	Pathogenic
5	110761530	A	T	A110761530T	SLC25A46	NM_138773.4(SLC25A46):c.1005A>T:p.Glu335Asp	coding	Pathogenic
5	110761543	C	T	C110761543T	SLC25A46	NM_138773.4(SLC25A46):c.1018C>T:p.Arg340Cys	coding	Pathogenic
5	110761547	T	C	T110761547C	SLC25A46	NM_138773.4(SLC25A46):c.1022T>C:p.Leu341Pro	coding	Pathogenic
5	110761662	G	T	G110761662T	SLC25A46	NM_138773.4(SLC25A46):c.1137G>T:p.Glu379Asp	coding	Benign
5	111103810	A	G	A111103810G	WDR36	NM_139281.2(WDR36):c.790A>G:p.Ile264Val	coding	Benign
5	111104342	A	G	A111104342G	WDR36	NM_139281.2(WDR36):c.1064A>G:p.Asn355Ser	coding	Pathogenic
5	111104689	C	G	C111104689G	WDR36	NM_139281.2(WDR36):c.1075-8C>G	noncoding	Benign
5	111110280	G	A	G111110280A	WDR36	NM_139281.2(WDR36):c.1586G>A:p.Arg529Gln	coding	Pathogenic
5	111119059	A	G	A111119059G	WDR36	NM_139281.2(WDR36):c.2011A>G:p.Met671Val	coding	Benign
5	111121006	A	T	A111121006T	WDR36	NM_139281.2(WDR36):c.2181A>T:p.Val727=	coding	Benign
5	111446758	G	A	G111446758A	CAMK4	NM_001744.6(CAMK4):c.532G>A:p.Asp178Asn	coding	Benign
5	111484418	T	G	T111484418G	CAMK4	NM_001744.6(CAMK4):c.1374T>G:p.Ala458=	coding	Benign
5	111484438	A	G	A111484438G	CAMK4	NM_001744.6(CAMK4):c.1394A>G:p.Gln465Arg	coding	Benign
5	112165054	G	A	G112165054A	EPB41L4A	NM_022140.5(EPB41L4A):c.1997C>T:p.Ala666Val	coding	Benign
5	112184063	T	C	T112184063C	EPB41L4A	NM_022140.5(EPB41L4A):c.1575A>G:p.Lys525=	coding	Benign
5	112195690	A	T	A112195690T	EPB41L4A	NM_022140.5(EPB41L4A):c.1395T>A:p.Gly465=	coding	Benign
5	112204429	C	T	C112204429T	EPB41L4A	NM_022140.5(EPB41L4A):c.1322G>A:p.Arg441His	coding	Benign
5	112240727	T	C	T112240727C	EPB41L4A	NM_022140.5(EPB41L4A):c.879A>G:p.Thr293=	coding	Benign
5	112264921	T	C	T112264921C	EPB41L4A	NM_022140.5(EPB41L4A):c.529A>G:p.Ile177Val	coding	Benign
5	112707232	G	A	G112707232A	APC	NM_000038.5(APC):c.-30712G>A	noncoding	Benign
5	112707302	A	G	A112707302G	APC	NM_000038.5(APC):c.-30642A>G	noncoding	Benign
5	112707312	C	T	C112707312T	APC	NM_000038.5(APC):c.-30632C>T	noncoding	Benign
5	112707375	A	G	A112707375G	APC	NM_000038.5(APC):c.-30569A>G	noncoding	Benign
5	112707376	T	C	T112707376C	APC	NM_000038.5(APC):c.-30568T>C	noncoding	Benign
5	112707473	A	C	A112707473C	APC	NM_000038.5(APC):c.-30471A>C	noncoding	Benign
5	112707477	A	C	A112707477C	APC	NM_000038.5(APC):c.-30467A>C	noncoding	Benign
5	112707477	A	G	A112707477G	APC	NM_000038.5(APC):c.-30467A>G	noncoding	Benign
5	112707478	G	C	G112707478C	APC	NM_000038.5(APC):c.-30466G>C	noncoding	Benign
5	112707526	A	T	A112707526T	APC	NM_001127511.3(APC):c.-192A>T	noncoding	Pathogenic
5	112707527	T	C	T112707527C	APC	NM_001127511.3(APC):c.-191T>C	noncoding	Pathogenic
5	112707528	G	A	G112707528A	APC	NM_001127511.3(APC):c.-190G>A	noncoding	Pathogenic
5	112707537	C	T	C112707537T	APC	NM_001127511.3(APC):c.-181C>T	noncoding	Benign/Likely_benign
5	112707566	C	T	C112707566T	APC	NM_001127511.3(APC):c.-152C>T	noncoding	Benign
5	112707585	C	G	C112707585G	APC	NM_001127511.3(APC):c.-133C>G	noncoding	Benign
5	112707586	G	T	G112707586T	APC	NM_001127511.3(APC):c.-132G>T	noncoding	Benign/Likely_benign
5	112707587	G	A	G112707587A	APC	NM_001127511.3(APC):c.-131G>A	noncoding	Benign
5	112707587	G	T	G112707587T	APC	NM_001127511.3(APC):c.-131G>T	noncoding	Benign
5	112707687	T	G	T112707687G	APC	NM_001127511.3(APC):c.-31T>G	noncoding	Benign
5	112707795	C	A	C112707795A	APC	NM_001127511.3(APC):c.78C>A:p.Ser26Arg	coding	Benign
5	112707898	G	C	G112707898C	APC	NM_001127511.3(APC):c.165+16G>C	noncoding	Benign
5	112737096	A	G	A112737096G	APC	NM_001127511.3(APC):c.165+29214A>G	noncoding	Benign
5	112737192	C	T	C112737192T	APC	NM_001127511.3(APC):c.166-29134C>T	noncoding	Benign
5	112737311	A	T	A112737311T	APC	NM_001127511.3(APC):c.166-29015A>T	noncoding	Benign
5	112737404	G	A	G112737404A	APC	NM_001127511.3(APC):c.166-28922G>A	noncoding	Benign
5	112738437	G	A	G112738437A	APC	NM_000038.6(APC):c.-19+512G>A	coding	Benign
5	112754860	T	G	T112754860G	APC	NM_000038.6(APC):c.-18-13T>G	noncoding	Benign
5	112754875	C	T	C112754875T	APC	NM_000038.6(APC):c.-16C>T	coding	Benign/Likely_benign
5	112754912	C	T	C112754912T	APC	NM_000038.6(APC):c.22C>T:p.Gln8Ter	coding	Pathogenic
5	112754945	G	T	G112754945T	APC	NM_000038.6(APC):c.55G>T:p.Glu19Ter	coding	Pathogenic
5	112754960	C	T	C112754960T	APC	NM_000038.6(APC):c.70C>T:p.Arg24Ter	coding	Pathogenic/Likely_pathogenic
5	112755010	G	A	G112755010A	APC	NM_000038.6(APC):c.120G>A:p.Glu40=	coding	Benign/Likely_benign
5	112766324	A	G	A112766324G	APC	NM_000038.6(APC):c.136-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	112766335	A	T	A112766335T	APC	NM_000038.6(APC):c.145A>T:p.Lys49Ter	coding	Pathogenic
5	112766344	C	T	C112766344T	APC	NM_000038.6(APC):c.154C>T:p.Gln52Ter	coding	Pathogenic
5	112766380	G	T	G112766380T	APC	NM_000038.6(APC):c.190G>T:p.Gly64Ter	coding	Pathogenic
5	112766393	T	G	T112766393G	APC	NM_000038.6(APC):c.203T>G:p.Leu68Ter	coding	Pathogenic
5	112766410	G	T	G112766410T	APC	NM_000038.6(APC):c.220G>T:p.Glu74Ter	coding	Pathogenic/Likely_pathogenic
5	112766411	G	A	G112766411A	APC	NM_000038.6(APC):c.220+1G>A	coding	Pathogenic
5	112766412	T	A	T112766412A	APC	NM_000038.6(APC):c.220+2T>A	noncoding	Pathogenic/Likely_pathogenic
5	112767187	A	G	A112767187G	APC	NM_000038.6(APC):c.221-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	112767227	C	T	C112767227T	APC	NM_000038.6(APC):c.259C>T:p.Leu87=	coding	Benign/Likely_benign
5	112767234	C	A	C112767234A	APC	NM_000038.6(APC):c.266C>A:p.Ser89Ter	coding	Pathogenic
5	112767234	C	G	C112767234G	APC	NM_000038.6(APC):c.266C>G:p.Ser89Ter	coding	Pathogenic
5	112767256	T	A	T112767256A	APC	NM_000038.6(APC):c.288T>A:p.Tyr96Ter	coding	Pathogenic/Likely_pathogenic
5	112767256	T	G	T112767256G	APC	NM_000038.6(APC):c.288T>G:p.Tyr96Ter	coding	Pathogenic
5	112767269	G	T	G112767269T	APC	NM_000038.6(APC):c.301G>T:p.Gly101Ter	coding	Pathogenic
5	112767279	C	G	C112767279G	APC	NM_000038.6(APC):c.311C>G:p.Ser104Ter	coding	Pathogenic/Likely_pathogenic
5	112767293	G	T	G112767293T	APC	NM_000038.6(APC):c.325G>T:p.Glu109Ter	coding	Pathogenic
5	112767318	C	A	C112767318A	APC	NM_000038.6(APC):c.350C>A:p.Ser117Ter	coding	Pathogenic
5	112767465	T	C	T112767465C	APC	NM_000038.6(APC):c.422+75T>C	noncoding	Benign
5	112775613	A	T	A112775613T	APC	NM_000038.6(APC):c.423-16A>T	noncoding	Benign
5	112775618	A	G	A112775618G	APC	NM_000038.6(APC):c.423-11A>G	noncoding	Pathogenic
5	112775620	A	G	A112775620G	APC	NM_000038.6(APC):c.423-9A>G	noncoding	Pathogenic
5	112775627	A	T	A112775627T	APC	NM_000038.6(APC):c.423-2A>T	noncoding	Pathogenic
5	112775628	G	A	G112775628A	APC	NM_000038.6(APC):c.423-1G>A	noncoding	Pathogenic
5	112775628	G	C	G112775628C	APC	NM_000038.6(APC):c.423-1G>C	noncoding	Pathogenic
5	112775629	G	T	G112775629T	APC	NM_000038.6(APC):c.423G>T:p.Arg141Ser	coding	Pathogenic
5	112775654	A	T	A112775654T	APC	NM_000038.6(APC):c.448A>T:p.Lys150Ter	coding	Pathogenic
5	112775676	G	A	G112775676A	APC	NM_000038.6(APC):c.470G>A:p.Trp157Ter	coding	Pathogenic
5	112775677	G	A	G112775677A	APC	NM_000038.6(APC):c.471G>A:p.Trp157Ter	coding	Pathogenic
5	112775683	C	A	C112775683A	APC	NM_000038.6(APC):c.477C>A:p.Tyr159Ter	coding	Pathogenic
5	112775683	C	G	C112775683G	APC	NM_000038.6(APC):c.477C>G:p.Tyr159Ter	coding	Pathogenic
5	112775687	C	T	C112775687T	APC	NM_000038.6(APC):c.481C>T:p.Gln161Ter	coding	Pathogenic
5	112775693	C	T	C112775693T	APC	NM_000038.6(APC):c.487C>T:p.Gln163Ter	coding	Pathogenic
5	112775727	T	G	T112775727G	APC	NM_000038.6(APC):c.521T>G:p.Leu174Ter	coding	Pathogenic
5	112775738	G	A	G112775738A	APC	NM_000038.6(APC):c.531+1G>A	coding	Pathogenic
5	112775738	G	C	G112775738C	APC	NM_000038.6(APC):c.531+1G>C	coding	Pathogenic/Likely_pathogenic
5	112775739	T	A	T112775739A	APC	NM_000038.6(APC):c.531+2T>A	noncoding	Pathogenic/Likely_pathogenic
5	112775739	T	C	T112775739C	APC	NM_000038.6(APC):c.531+2T>C	noncoding	Pathogenic
5	112775742	G	A	G112775742A	APC	NM_000038.6(APC):c.531+5G>A	noncoding	Pathogenic
5	112775742	G	C	G112775742C	APC	NM_000038.6(APC):c.531+5G>C	noncoding	Pathogenic/Likely_pathogenic
5	112780046	G	T	G112780046T	APC	NM_000038.6(APC):c.532-744G>T	noncoding	Benign
5	112780758	T	C	T112780758C	APC	NM_000038.6(APC):c.532-32T>C	noncoding	Benign/Likely_benign
5	112780782	G	A	G112780782A	APC	NM_000038.6(APC):c.532-8G>A	noncoding	Pathogenic/Likely_pathogenic
5	112780788	A	C	A112780788C	APC	NM_000038.6(APC):c.532-2A>C	noncoding	Pathogenic
5	112780789	G	A	G112780789A	APC	NM_000038.6(APC):c.532-1G>A	noncoding	Pathogenic
5	112780797	T	A	T112780797A	APC	NM_000038.6(APC):c.539T>A:p.Leu180Ter	coding	Pathogenic
5	112780799	C	T	C112780799T	APC	NM_000038.6(APC):c.541C>T:p.Gln181Ter	coding	Pathogenic
5	112780814	A	T	A112780814T	APC	NM_000038.6(APC):c.556A>T:p.Arg186Ter	coding	Pathogenic
5	112780820	C	T	C112780820T	APC	NM_000038.6(APC):c.562C>T:p.Gln188Ter	coding	Pathogenic
5	112780831	T	C	T112780831C	APC	NM_000038.6(APC):c.573T>C:p.Tyr191=	coding	Benign/Likely_benign
5	112780841	C	T	C112780841T	APC	NM_000038.6(APC):c.583C>T:p.Gln195Ter	coding	Pathogenic
5	112780865	C	T	C112780865T	APC	NM_000038.6(APC):c.607C>T:p.Gln203Ter	coding	Pathogenic
5	112780880	C	T	C112780880T	APC	NM_000038.6(APC):c.622C>T:p.Gln208Ter	coding	Pathogenic
5	112780895	C	T	C112780895T	APC	NM_000038.6(APC):c.637C>T:p.Arg213Ter	coding	Pathogenic
5	112780901	C	T	C112780901T	APC	NM_000038.6(APC):c.643C>T:p.Gln215Ter	coding	Pathogenic
5	112780904	G	A	G112780904A	APC	NM_000038.6(APC):c.645+1G>A	coding	Pathogenic/Likely_pathogenic
5	112780904	G	T	G112780904T	APC	NM_000038.6(APC):c.645+1G>T	coding	Pathogenic
5	112780935	C	T	C112780935T	APC	NM_000038.6(APC):c.645+32C>T	noncoding	Benign
5	112780964	C	T	C112780964T	APC	NM_000038.6(APC):c.645+61C>T	noncoding	Benign
5	112781032	A	C	A112781032C	APC	NM_000038.6(APC):c.645+129A>C	noncoding	Benign
5	112792445	G	C	G112792445C	APC	NM_000038.6(APC):c.646-1G>C	noncoding	Pathogenic
5	112792446	C	T	C112792446T	APC	NM_000038.6(APC):c.646C>T:p.Arg216Ter	coding	Pathogenic
5	112792464	C	T	C112792464T	APC	NM_000038.6(APC):c.664C>T:p.Gln222Ter	coding	Pathogenic
5	112792467	C	T	C112792467T	APC	NM_000038.6(APC):c.667C>T:p.Gln223Ter	coding	Pathogenic
5	112792494	C	T	C112792494T	APC	NM_000038.6(APC):c.694C>T:p.Arg232Ter	coding	Pathogenic
5	112792497	C	T	C112792497T	APC	NM_000038.6(APC):c.697C>T:p.Gln233Ter	coding	Pathogenic
5	112792505	A	G	A112792505G	APC	NM_000038.6(APC):c.705A>G:p.Leu235=	coding	Benign/Likely_benign
5	112792506	C	T	C112792506T	APC	NM_000038.6(APC):c.706C>T:p.Gln236Ter	coding	Pathogenic
5	112792512	C	T	C112792512T	APC	NM_000038.6(APC):c.712C>T:p.Gln238Ter	coding	Pathogenic
5	112792552	T	C	T112792552C	APC	NM_000038.6(APC):c.729+23T>C	noncoding	Benign
5	112801250	A	T	A112801250T	APC	NM_000038.6(APC):c.730-29A>T	noncoding	Benign
5	112801278	G	C	G112801278C	APC	NM_000038.6(APC):c.730-1G>C	noncoding	Pathogenic
5	112801283	C	A	C112801283A	APC	NM_000038.6(APC):c.734C>A:p.Ser245Ter	coding	Pathogenic
5	112801288	C	T	C112801288T	APC	NM_000038.6(APC):c.739C>T:p.Gln247Ter	coding	Pathogenic
5	112801305	C	T	C112801305T	APC	NM_000038.6(APC):c.756C>T:p.Thr252=	coding	Benign/Likely_benign
5	112801310	C	G	C112801310G	APC	NM_000038.6(APC):c.761C>G:p.Ser254Ter	coding	Pathogenic
5	112801351	G	T	G112801351T	APC	NM_000038.6(APC):c.802G>T:p.Glu268Ter	coding	Pathogenic
5	112801381	C	T	C112801381T	APC	NM_000038.6(APC):c.832C>T:p.Gln278Ter	coding	Pathogenic
5	112801384	G	A	G112801384A	APC	NM_000038.6(APC):c.834+1G>A	coding	Pathogenic
5	112815487	A	G	A112815487G	APC	NM_000038.6(APC):c.835-8A>G	noncoding	Pathogenic/Likely_pathogenic
5	112815499	C	G	C112815499G	APC	NM_000038.6(APC):c.839C>G:p.Ser280Ter	coding	Pathogenic
5	112815507	C	T	C112815507T	APC	NM_000038.6(APC):c.847C>T:p.Arg283Ter	coding	Pathogenic
5	112815535	T	A	T112815535A	APC	NM_000038.6(APC):c.875T>A:p.Leu292Ter	coding	Pathogenic
5	112815564	C	T	C112815564T	APC	NM_000038.6(APC):c.904C>T:p.Arg302Ter	coding	Pathogenic
5	112815585	G	T	G112815585T	APC	NM_000038.6(APC):c.925G>T:p.Gly309Ter	coding	Pathogenic
5	112815591	A	T	A112815591T	APC	NM_000038.6(APC):c.931A>T:p.Lys311Ter	coding	Pathogenic
5	112815594	G	A	G112815594A	APC	NM_000038.6(APC):c.933+1G>A	coding	Pathogenic/Likely_pathogenic
5	112815623	A	G	A112815623G	APC	NM_000038.6(APC):c.933+30A>G	noncoding	Benign/Likely_benign
5	112818980	T	G	T112818980G	APC	NM_000038.6(APC):c.948T>G:p.Tyr316Ter	coding	Pathogenic
5	112819025	G	A	G112819025A	APC	NM_000038.6(APC):c.993G>A:p.Ser331=	coding	Benign/Likely_benign
5	112819026	C	T	C112819026T	APC	NM_000038.6(APC):c.994C>T:p.Arg332Ter	coding	Pathogenic
5	112819064	T	A	T112819064A	APC	NM_000038.6(APC):c.1032T>A:p.Cys344Ter	coding	Pathogenic
5	112819074	C	T	C112819074T	APC	NM_000038.6(APC):c.1042C>T:p.Arg348Ter	coding	Pathogenic
5	112819082	T	G	T112819082G	APC	NM_000038.6(APC):c.1050T>G:p.Ser350=	coding	Benign/Likely_benign
5	112819104	C	T	C112819104T	APC	NM_000038.6(APC):c.1072C>T:p.Gln358Ter	coding	Pathogenic
5	112819143	G	T	G112819143T	APC	NM_000038.6(APC):c.1111G>T:p.Gly371Ter	coding	Pathogenic
5	112819210	C	G	C112819210G	APC	NM_000038.6(APC):c.1178C>G:p.Ser393Ter	coding	Pathogenic
5	112819212	C	T	C112819212T	APC	NM_000038.6(APC):c.1180C>T:p.Gln394Ter	coding	Pathogenic
5	112819245	C	T	C112819245T	APC	NM_000038.6(APC):c.1213C>T:p.Arg405Ter	coding	Pathogenic
5	112819266	C	T	C112819266T	APC	NM_000038.6(APC):c.1234C>T:p.Gln412Ter	coding	Pathogenic
5	112819283	T	A	T112819283A	APC	NM_000038.6(APC):c.1251T>A:p.Cys417Ter	coding	Pathogenic
5	112819294	G	A	G112819294A	APC	NM_000038.6(APC):c.1262G>A:p.Trp421Ter	coding	Pathogenic
5	112819295	G	A	G112819295A	APC	NM_000038.6(APC):c.1263G>A:p.Trp421Ter	coding	Pathogenic
5	112819300	G	A	G112819300A	APC	NM_000038.6(APC):c.1268G>A:p.Trp423Ter	coding	Pathogenic
5	112819302	C	T	C112819302T	APC	NM_000038.6(APC):c.1270C>T:p.Gln424Ter	coding	Pathogenic
5	112819329	C	T	C112819329T	APC	NM_000038.6(APC):c.1297C>T:p.Gln433Ter	coding	Pathogenic
5	112819345	G	A	G112819345A	APC	NM_000038.6(APC):c.1312+1G>A	coding	Pathogenic
5	112819346	T	C	T112819346C	APC	NM_000038.6(APC):c.1312+2T>C	noncoding	Pathogenic
5	112819347	A	G	A112819347G	APC	NM_000038.6(APC):c.1312+3A>G	noncoding	Pathogenic/Likely_pathogenic
5	112819349	G	A	G112819349A	APC	NM_000038.6(APC):c.1312+5G>A	noncoding	Pathogenic
5	112819371	G	A	G112819371A	APC	NM_000038.6(APC):c.1312+27G>A	noncoding	Benign
5	112821887	A	G	A112821887G	APC	NM_000038.6(APC):c.1313-9A>G	noncoding	Benign/Likely_benign
5	112821916	C	T	C112821916T	APC	NM_000038.6(APC):c.1333C>T:p.Gln445Ter	coding	Pathogenic
5	112821936	T	A	T112821936A	APC	NM_000038.6(APC):c.1353T>A:p.Cys451Ter	coding	Pathogenic
5	112821953	C	A	C112821953A	APC	NM_000038.6(APC):c.1370C>A:p.Ser457Ter	coding	Pathogenic
5	112821953	C	G	C112821953G	APC	NM_000038.6(APC):c.1370C>G:p.Ser457Ter	coding	Pathogenic
5	112821985	G	T	G112821985T	APC	NM_000038.6(APC):c.1402G>T:p.Glu468Ter	coding	Pathogenic
5	112822783	A	T	A112822783T	APC	NM_000038.6(APC):c.1408+792A>T	noncoding	Benign
5	112827103	A	G	A112827103G	APC	NM_000038.6(APC):c.1409-5A>G	noncoding	Pathogenic
5	112827106	A	C	A112827106C	APC	NM_000038.6(APC):c.1409-2A>C	noncoding	Pathogenic
5	112827107	G	A	G112827107A	APC	NM_000038.6(APC):c.1409-1G>A	noncoding	Pathogenic
5	112827107	G	T	G112827107T	APC	NM_000038.6(APC):c.1409-1G>T	noncoding	Pathogenic/Likely_pathogenic
5	112827116	C	T	C112827116T	APC	NM_000038.6(APC):c.1417C>T:p.Gln473Ter	coding	Pathogenic
5	112827118	G	A	G112827118A	APC	NM_000038.6(APC):c.1419G>A:p.Gln473=	coding	Benign/Likely_benign
5	112827142	G	A	G112827142A	APC	NM_000038.6(APC):c.1443G>A:p.Val481=	coding	Benign/Likely_benign
5	112827157	T	C	T112827157C	APC	NM_000038.6(APC):c.1458T>C:p.Tyr486=	coding	Benign
5	112827157	T	G	T112827157G	APC	NM_000038.6(APC):c.1458T>G:p.Tyr486Ter	coding	Pathogenic
5	112827178	C	A	C112827178A	APC	NM_000038.6(APC):c.1479C>A:p.Tyr493Ter	coding	Pathogenic
5	112827187	A	T	A112827187T	APC	NM_000038.6(APC):c.1488A>T:p.Thr496=	coding	Benign/Likely_benign
5	112827194	C	T	C112827194T	APC	NM_000038.6(APC):c.1495C>T:p.Arg499Ter	coding	Pathogenic
5	112827199	T	A	T112827199A	APC	NM_000038.6(APC):c.1500T>A:p.Tyr500Ter	coding	Pathogenic
5	112827199	T	G	T112827199G	APC	NM_000038.6(APC):c.1500T>G:p.Tyr500Ter	coding	Pathogenic
5	112827211	T	C	T112827211C	APC	NM_000038.6(APC):c.1512T>C:p.Ala504=	coding	Benign
5	112827230	G	T	G112827230T	APC	NM_000038.6(APC):c.1531G>T:p.Gly511Ter	coding	Pathogenic
5	112827247	G	A	G112827247A	APC	NM_000038.6(APC):c.1548G>A:p.Lys516=	coding	Pathogenic
5	112827247	G	C	G112827247C	APC	NM_000038.6(APC):c.1548G>C:p.Lys516Asn	coding	Pathogenic
5	112827248	G	A	G112827248A	APC	NM_000038.6(APC):c.1548+1G>A	coding	Pathogenic
5	112827248	G	C	G112827248C	APC	NM_000038.6(APC):c.1548+1G>C	coding	Pathogenic
5	112827248	G	T	G112827248T	APC	NM_000038.6(APC):c.1548+1G>T	coding	Pathogenic
5	112827264	T	C	T112827264C	APC	NM_000038.6(APC):c.1548+17T>C	noncoding	Benign/Likely_benign
5	112827934	G	A	G112827934A	APC	NM_000038.6(APC):c.1554G>A:p.Thr518=	coding	Benign/Likely_benign
5	112827980	A	T	A112827980T	APC	NM_000038.6(APC):c.1600A>T:p.Lys534Ter	coding	Pathogenic
5	112827986	G	T	G112827986T	APC	NM_000038.6(APC):c.1606G>T:p.Glu536Ter	coding	Pathogenic
5	112828001	C	T	C112828001T	APC	NM_000038.6(APC):c.1621C>T:p.Gln541Ter	coding	Pathogenic
5	112828004	C	T	C112828004T	APC	NM_000038.6(APC):c.1624C>T:p.Gln542Ter	coding	Pathogenic
5	112828007	G	A	G112828007A	APC	NM_000038.6(APC):c.1626+1G>A	coding	Pathogenic/Likely_pathogenic
5	112828763	A	C	A112828763C	APC	NM_000038.6(APC):c.1627-93A>C	noncoding	Benign
5	112828855	G	A	G112828855A	APC	NM_000038.6(APC):c.1627-1G>A	noncoding	Pathogenic
5	112828864	G	A	G112828864A	APC	NM_000038.6(APC):c.1635G>A:p.Ala545=	coding	Benign
5	112828887	G	A	G112828887A	APC	NM_000038.6(APC):c.1658G>A:p.Trp553Ter	coding	Pathogenic
5	112828888	G	A	G112828888A	APC	NM_000038.6(APC):c.1659G>A:p.Trp553Ter	coding	Pathogenic
5	112828889	C	T	C112828889T	APC	NM_000038.6(APC):c.1660C>T:p.Arg554Ter	coding	Pathogenic
5	112828915	G	A	G112828915A	APC	NM_000038.6(APC):c.1686G>A:p.Thr562=	coding	Benign/Likely_benign
5	112828919	C	T	C112828919T	APC	NM_000038.6(APC):c.1690C>T:p.Arg564Ter	coding	Pathogenic
5	112828922	G	T	G112828922T	APC	NM_000038.6(APC):c.1693G>T:p.Glu565Ter	coding	Pathogenic
5	112828924	A	G	A112828924G	APC	NM_000038.6(APC):c.1695A>G:p.Glu565=	coding	Benign
5	112828942	A	G	A112828942G	APC	NM_000038.6(APC):c.1713A>G:p.Ala571=	coding	Benign/Likely_benign
5	112828949	G	T	G112828949T	APC	NM_000038.6(APC):c.1720G>T:p.Glu574Ter	coding	Pathogenic
5	112834985	G	A	G112834985A	APC	NM_000038.6(APC):c.1778G>A:p.Trp593Ter	coding	Pathogenic
5	112834986	G	A	G112834986A	APC	NM_000038.6(APC):c.1779G>A:p.Trp593Ter	coding	Pathogenic
5	112834994	C	G	C112834994G	APC	NM_000038.6(APC):c.1787C>G:p.Ser596Ter	coding	Pathogenic
5	112835004	C	A	C112835004A	APC	NM_000038.6(APC):c.1797C>A:p.Cys599Ter	coding	Pathogenic
5	112835073	C	A	C112835073A	APC	NM_000038.6(APC):c.1866C>A:p.Tyr622Ter	coding	Pathogenic
5	112835073	C	G	C112835073G	APC	NM_000038.6(APC):c.1866C>G:p.Tyr622Ter	coding	Pathogenic
5	112835080	C	T	C112835080T	APC	NM_000038.6(APC):c.1873C>T:p.Gln625Ter	coding	Pathogenic
5	112835093	T	A	T112835093A	APC	NM_000038.6(APC):c.1886T>A:p.Leu629Ter	coding	Pathogenic
5	112835093	T	G	T112835093G	APC	NM_000038.6(APC):c.1886T>G:p.Leu629Ter	coding	Pathogenic
5	112835110	G	T	G112835110T	APC	NM_000038.6(APC):c.1903G>T:p.Gly635Ter	coding	Pathogenic
5	112835163	C	T	C112835163T	APC	NM_000038.6(APC):c.1956C>T:p.His652=	coding	Pathogenic/Likely_pathogenic
5	112835164	A	C	A112835164C	APC	NM_000038.6(APC):c.1957A>C:p.Arg653=	coding	Pathogenic
5	112835164	A	G	A112835164G	APC	NM_000038.6(APC):c.1957A>G:p.Arg653Gly	coding	Pathogenic/Likely_pathogenic
5	112835165	G	A	G112835165A	APC	NM_000038.6(APC):c.1958G>A:p.Arg653Lys	coding	Pathogenic/Likely_pathogenic
5	112835165	G	T	G112835165T	APC	NM_000038.6(APC):c.1958G>T:p.Arg653Met	coding	Pathogenic/Likely_pathogenic
5	112835166	G	A	G112835166A	APC	NM_000038.6(APC):c.1958+1G>A	coding	Pathogenic
5	112835168	A	G	A112835168G	APC	NM_000038.6(APC):c.1958+3A>G	noncoding	Pathogenic
5	112835173	T	C	T112835173C	APC	NM_000038.6(APC):c.1958+8T>C	noncoding	Benign
5	112835175	G	T	G112835175T	APC	NM_000038.6(APC):c.1958+10G>T	noncoding	Benign/Likely_benign
5	112837551	A	G	A112837551G	APC	NM_000038.6(APC):c.1959-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	112837553	G	A	G112837553A	APC	NM_000038.6(APC):c.1959G>A:p.Arg653=	coding	Benign/Likely_benign
5	112837577	T	A	T112837577A	APC	NM_000038.6(APC):c.1983T>A:p.Cys661Ter	coding	Pathogenic
5	112837581	C	T	C112837581T	APC	NM_000038.6(APC):c.1987C>T:p.Gln663Ter	coding	Pathogenic
5	112837588	T	G	T112837588G	APC	NM_000038.6(APC):c.1994T>G:p.Leu665Ter	coding	Pathogenic
5	112837593	C	T	C112837593T	APC	NM_000038.6(APC):c.1999C>T:p.Gln667Ter	coding	Pathogenic
5	112837615	T	A	T112837615A	APC	NM_000038.6(APC):c.2021T>A:p.Leu674Ter	coding	Pathogenic
5	112837625	C	T	C112837625T	APC	NM_000038.6(APC):c.2031C>T:p.Val677=	coding	Benign/Likely_benign
5	112837657	C	A	C112837657A	APC	NM_000038.6(APC):c.2063C>A:p.Ser688Ter	coding	Pathogenic
5	112837671	A	T	A112837671T	APC	NM_000038.6(APC):c.2077A>T:p.Lys693Ter	coding	Pathogenic
5	112837687	T	A	T112837687A	APC	NM_000038.6(APC):c.2093T>A:p.Leu698Ter	coding	Pathogenic
5	112837687	T	G	T112837687G	APC	NM_000038.6(APC):c.2093T>G:p.Leu698Ter	coding	Pathogenic
5	112837690	G	A	G112837690A	APC	NM_000038.6(APC):c.2096G>A:p.Trp699Ter	coding	Pathogenic
5	112837691	G	A	G112837691A	APC	NM_000038.6(APC):c.2097G>A:p.Trp699Ter	coding	Pathogenic
5	112837732	C	G	C112837732G	APC	NM_000038.6(APC):c.2138C>G:p.Ser713Ter	coding	Pathogenic
5	112837805	C	A	C112837805A	APC	NM_000038.6(APC):c.2211C>A:p.Tyr737Ter	coding	Pathogenic
5	112837805	C	G	C112837805G	APC	NM_000038.6(APC):c.2211C>G:p.Tyr737Ter	coding	Pathogenic
5	112837834	C	G	C112837834G	APC	NM_000038.6(APC):c.2240C>G:p.Ser747Ter	coding	Pathogenic
5	112837856	T	G	T112837856G	APC	NM_000038.6(APC):c.2262T>G:p.Val754=	coding	Benign/Likely_benign
5	112837871	C	T	C112837871T	APC	NM_000038.6(APC):c.2277C>T:p.Ala759=	coding	Benign/Likely_benign
5	112837881	G	T	G112837881T	APC	NM_000038.6(APC):c.2287G>T:p.Glu763Ter	coding	Pathogenic
5	112837893	C	T	C112837893T	APC	NM_000038.6(APC):c.2299C>T:p.Gln767Ter	coding	Pathogenic
5	112837903	C	G	C112837903G	APC	NM_000038.6(APC):c.2309C>G:p.Ser770Ter	coding	Pathogenic
5	112837916	C	T	C112837916T	APC	NM_000038.6(APC):c.2322C>T:p.Asp774=	coding	Benign/Likely_benign
5	112837930	T	G	T112837930G	APC	NM_000038.6(APC):c.2336T>G:p.Leu779Ter	coding	Pathogenic
5	112837959	C	T	C112837959T	APC	NM_000038.6(APC):c.2365C>T:p.Gln789Ter	coding	Pathogenic
5	112837982	T	G	T112837982G	APC	NM_000038.6(APC):c.2388T>G:p.Tyr796Ter	coding	Pathogenic
5	112837991	T	G	T112837991G	APC	NM_000038.6(APC):c.2397T>G:p.Tyr799Ter	coding	Pathogenic
5	112838007	C	T	C112838007T	APC	NM_000038.6(APC):c.2413C>T:p.Arg805Ter	coding	Pathogenic
5	112838069	T	G	T112838069G	APC	NM_000038.6(APC):c.2475T>G:p.Tyr825Ter	coding	Pathogenic
5	112838162	C	T	C112838162T	APC	NM_000038.6(APC):c.2568C>T:p.Arg856=	coding	Benign/Likely_benign
5	112838180	C	G	C112838180G	APC	NM_000038.6(APC):c.2586C>G:p.Asn862Lys	coding	Benign/Likely_benign
5	112838183	C	A	C112838183A	APC	NM_000038.6(APC):c.2589C>A:p.Tyr863Ter	coding	Pathogenic
5	112838202	C	T	C112838202T	APC	NM_000038.6(APC):c.2608C>T:p.Pro870Ser	coding	Benign/Likely_benign
5	112838215	C	G	C112838215G	APC	NM_000038.6(APC):c.2621C>G:p.Ser874Ter	coding	Pathogenic
5	112838220	C	T	C112838220T	APC	NM_000038.6(APC):c.2626C>T:p.Arg876Ter	coding	Pathogenic
5	112838229	C	T	C112838229T	APC	NM_000038.6(APC):c.2635C>T:p.Gln879Ter	coding	Pathogenic
5	112838250	C	T	C112838250T	APC	NM_000038.6(APC):c.2656C>T:p.Gln886Ter	coding	Pathogenic
5	112838268	G	T	G112838268T	APC	NM_000038.6(APC):c.2674G>T:p.Glu892Ter	coding	Pathogenic
5	112838271	G	T	G112838271T	APC	NM_000038.6(APC):c.2677G>T:p.Glu893Ter	coding	Pathogenic
5	112838295	C	T	C112838295T	APC	NM_000038.6(APC):c.2701C>T:p.Gln901Ter	coding	Pathogenic
5	112838325	G	T	G112838325T	APC	NM_000038.6(APC):c.2731G>T:p.Glu911Ter	coding	Pathogenic
5	112838372	T	C	T112838372C	APC	NM_000038.6(APC):c.2778T>C:p.Ser926=	coding	Benign/Likely_benign
5	112838389	C	A	C112838389A	APC	NM_000038.6(APC):c.2795C>A:p.Ser932Ter	coding	Pathogenic
5	112838389	C	G	C112838389G	APC	NM_000038.6(APC):c.2795C>G:p.Ser932Ter	coding	Pathogenic
5	112838399	C	A	C112838399A	APC	NM_000038.6(APC):c.2805C>A:p.Tyr935Ter	coding	Pathogenic
5	112838399	C	G	C112838399G	APC	NM_000038.6(APC):c.2805C>G:p.Tyr935Ter	coding	Pathogenic
5	112838399	C	T	C112838399T	APC	NM_000038.6(APC):c.2805C>T:p.Tyr935=	coding	Benign/Likely_benign
5	112838409	A	T	A112838409T	APC	NM_000038.6(APC):c.2815A>T:p.Lys939Ter	coding	Pathogenic
5	112838422	C	A	C112838422A	APC	NM_000038.6(APC):c.2828C>A:p.Ser943Ter	coding	Pathogenic
5	112838422	C	G	C112838422G	APC	NM_000038.6(APC):c.2828C>G:p.Ser943Ter	coding	Pathogenic
5	112838432	A	G	A112838432G	APC	NM_000038.6(APC):c.2838A>G:p.Thr946=	coding	Benign/Likely_benign
5	112838532	A	T	A112838532T	APC	NM_000038.6(APC):c.2938A>T:p.Lys980Ter	coding	Pathogenic
5	112838544	G	T	G112838544T	APC	NM_000038.6(APC):c.2950G>T:p.Glu984Ter	coding	Pathogenic
5	112838565	G	T	G112838565T	APC	NM_000038.6(APC):c.2971G>T:p.Glu991Ter	coding	Pathogenic
5	112838585	T	G	T112838585G	APC	NM_000038.6(APC):c.2991T>G:p.Tyr997Ter	coding	Pathogenic
5	112838589	C	T	C112838589T	APC	NM_000038.6(APC):c.2995C>T:p.Gln999Ter	coding	Pathogenic
5	112838594	C	A	C112838594A	APC	NM_000038.6(APC):c.3000C>A:p.Tyr1000Ter	coding	Pathogenic
5	112838600	C	T	C112838600T	APC	NM_000038.6(APC):c.3006C>T:p.Ala1002=	coding	Benign/Likely_benign
5	112838652	G	T	G112838652T	APC	NM_000038.6(APC):c.3058G>T:p.Glu1020Ter	coding	Pathogenic
5	112838682	A	T	A112838682T	APC	NM_000038.6(APC):c.3088A>T:p.Lys1030Ter	coding	Pathogenic
5	112838715	C	T	C112838715T	APC	NM_000038.6(APC):c.3121C>T:p.Gln1041Ter	coding	Pathogenic
5	112838740	G	A	G112838740A	APC	NM_000038.6(APC):c.3146G>A:p.Trp1049Ter	coding	Pathogenic
5	112838741	G	A	G112838741A	APC	NM_000038.6(APC):c.3147G>A:p.Trp1049Ter	coding	Pathogenic
5	112838759	A	T	A112838759T	APC	NM_000038.6(APC):c.3165A>T:p.Ile1055=	coding	Benign
5	112838778	C	T	C112838778T	APC	NM_000038.6(APC):c.3184C>T:p.Gln1062Ter	coding	Pathogenic
5	112838784	G	T	G112838784T	APC	NM_000038.6(APC):c.3190G>T:p.Glu1064Ter	coding	Pathogenic
5	112838793	C	T	C112838793T	APC	NM_000038.6(APC):c.3199C>T:p.Gln1067Ter	coding	Pathogenic
5	112838797	C	A	C112838797A	APC	NM_000038.6(APC):c.3203C>A:p.Ser1068Ter	coding	Pathogenic
5	112838797	C	G	C112838797G	APC	NM_000038.6(APC):c.3203C>G:p.Ser1068Ter	coding	Pathogenic
5	112838805	C	T	C112838805T	APC	NM_000038.6(APC):c.3211C>T:p.Gln1071Ter	coding	Pathogenic
5	112838819	T	A	T112838819A	APC	NM_000038.6(APC):c.3225T>A:p.Tyr1075Ter	coding	Pathogenic
5	112838843	T	G	T112838843G	APC	NM_000038.6(APC):c.3249T>G:p.Asp1083Glu	coding	Benign/Likely_benign
5	112838858	G	A	G112838858A	APC	NM_000038.6(APC):c.3264G>A:p.Lys1088=	coding	Benign
5	112838862	C	T	C112838862T	APC	NM_000038.6(APC):c.3268C>T:p.Gln1090Ter	coding	Pathogenic
5	112838880	C	T	C112838880T	APC	NM_000038.6(APC):c.3286C>T:p.Gln1096Ter	coding	Pathogenic
5	112838900	C	A	C112838900A	APC	NM_000038.6(APC):c.3306C>A:p.Tyr1102Ter	coding	Pathogenic
5	112838900	C	G	C112838900G	APC	NM_000038.6(APC):c.3306C>G:p.Tyr1102Ter	coding	Pathogenic
5	112838905	C	A	C112838905A	APC	NM_000038.6(APC):c.3311C>A:p.Ser1104Ter	coding	Pathogenic
5	112838905	C	G	C112838905G	APC	NM_000038.6(APC):c.3311C>G:p.Ser1104Ter	coding	Pathogenic
5	112838910	G	T	G112838910T	APC	NM_000038.6(APC):c.3316G>T:p.Gly1106Ter	coding	Pathogenic
5	112838923	C	A	C112838923A	APC	NM_000038.6(APC):c.3329C>A:p.Ser1110Ter	coding	Pathogenic
5	112838923	C	G	C112838923G	APC	NM_000038.6(APC):c.3329C>G:p.Ser1110Ter	coding	Pathogenic
5	112838934	C	T	C112838934T	APC	NM_000038.6(APC):c.3340C>T:p.Arg1114Ter	coding	Pathogenic
5	112838946	A	G	A112838946G	APC	NM_000038.6(APC):c.3352A>G:p.Asn1118Asp	coding	Benign/Likely_benign
5	112838953	G	A	G112838953A	APC	NM_000038.6(APC):c.3359G>A:p.Gly1120Glu	coding	Pathogenic
5	112838961	C	T	C112838961T	APC	NM_000038.6(APC):c.3367C>T:p.Gln1123Ter	coding	Pathogenic
5	112838973	C	T	C112838973T	APC	NM_000038.6(APC):c.3379C>T:p.Gln1127Ter	coding	Pathogenic
5	112838985	C	T	C112838985T	APC	NM_000038.6(APC):c.3391C>T:p.Gln1131Ter	coding	Pathogenic
5	112839048	C	T	C112839048T	APC	NM_000038.6(APC):c.3454C>T:p.Gln1152Ter	coding	Pathogenic
5	112839060	G	T	G112839060T	APC	NM_000038.6(APC):c.3466G>T:p.Glu1156Ter	coding	Pathogenic
5	112839065	G	A	G112839065A	APC	NM_000038.6(APC):c.3471G>A:p.Glu1157=	coding	Benign
5	112839066	A	T	A112839066T	APC	NM_000038.6(APC):c.3472A>T:p.Arg1158Ter	coding	Pathogenic
5	112839105	C	T	C112839105T	APC	NM_000038.6(APC):c.3511C>T:p.Arg1171Cys	coding	Benign/Likely_benign
5	112839117	C	T	C112839117T	APC	NM_000038.6(APC):c.3523C>T:p.Gln1175Ter	coding	Pathogenic
5	112839136	T	A	T112839136A	APC	NM_000038.6(APC):c.3542T>A:p.Leu1181Ter	coding	Pathogenic
5	112839143	T	G	T112839143G	APC	NM_000038.6(APC):c.3549T>G:p.Tyr1183Ter	coding	Pathogenic
5	112839165	C	T	C112839165T	APC	NM_000038.6(APC):c.3571C>T:p.Gln1191Ter	coding	Pathogenic
5	112839171	C	T	C112839171T	APC	NM_000038.6(APC):c.3577C>T:p.Gln1193Ter	coding	Pathogenic
5	112839187	C	G	C112839187G	APC	NM_000038.6(APC):c.3593C>G:p.Ser1198Ter	coding	Pathogenic
5	112839196	C	G	C112839196G	APC	NM_000038.6(APC):c.3602C>G:p.Ser1201Ter	coding	Pathogenic
5	112839218	C	T	C112839218T	APC	NM_000038.6(APC):c.3624C>T:p.Thr1208=	coding	Benign/Likely_benign
5	112839232	C	G	C112839232G	APC	NM_000038.6(APC):c.3638C>G:p.Ser1213Ter	coding	Pathogenic
5	112839259	C	A	C112839259A	APC	NM_000038.6(APC):c.3665C>A:p.Ser1222Ter	coding	Pathogenic
5	112839276	C	T	C112839276T	APC	NM_000038.6(APC):c.3682C>T:p.Gln1228Ter	coding	Pathogenic
5	112839282	C	T	C112839282T	APC	NM_000038.6(APC):c.3688C>T:p.Gln1230Ter	coding	Pathogenic
5	112839324	C	T	C112839324T	APC	NM_000038.6(APC):c.3730C>T:p.Gln1244Ter	coding	Pathogenic
5	112839326	A	G	A112839326G	APC	NM_000038.6(APC):c.3732A>G:p.Gln1244=	coding	Benign
5	112839333	G	A	G112839333A	APC	NM_000038.6(APC):c.3739G>A:p.Ala1247Thr	coding	Benign/Likely_benign
5	112839360	C	T	C112839360T	APC	NM_000038.6(APC):c.3766C>T:p.Gln1256Ter	coding	Pathogenic
5	112839363	G	T	G112839363T	APC	NM_000038.6(APC):c.3769G>T:p.Glu1257Ter	coding	Pathogenic
5	112839380	T	A	T112839380A	APC	NM_000038.6(APC):c.3786T>A:p.Tyr1262Ter	coding	Pathogenic
5	112839380	T	C	T112839380C	APC	NM_000038.6(APC):c.3786T>C:p.Tyr1262=	coding	Benign/Likely_benign
5	112839380	T	G	T112839380G	APC	NM_000038.6(APC):c.3786T>G:p.Tyr1262Ter	coding	Pathogenic
5	112839404	T	A	T112839404A	APC	NM_000038.6(APC):c.3810T>A:p.Cys1270Ter	coding	Pathogenic
5	112839409	C	G	C112839409G	APC	NM_000038.6(APC):c.3815C>G:p.Ser1272Ter	coding	Pathogenic
5	112839421	C	A	C112839421A	APC	NM_000038.6(APC):c.3827C>A:p.Ser1276Ter	coding	Pathogenic
5	112839421	C	G	C112839421G	APC	NM_000038.6(APC):c.3827C>G:p.Ser1276Ter	coding	Pathogenic
5	112839424	T	G	T112839424G	APC	NM_000038.6(APC):c.3830T>G:p.Leu1277Ter	coding	Pathogenic
5	112839436	C	G	C112839436G	APC	NM_000038.6(APC):c.3842C>G:p.Ser1281Ter	coding	Pathogenic
5	112839439	C	G	C112839439G	APC	NM_000038.6(APC):c.3845C>G:p.Ser1282Ter	coding	Pathogenic
5	112839444	G	T	G112839444T	APC	NM_000038.6(APC):c.3850G>T:p.Glu1284Ter	coding	Pathogenic
5	112839461	T	A	T112839461A	APC	NM_000038.6(APC):c.3867T>A:p.Cys1289Ter	coding	Pathogenic
5	112839465	C	T	C112839465T	APC	NM_000038.6(APC):c.3871C>T:p.Gln1291Ter	coding	Pathogenic
5	112839474	C	T	C112839474T	APC	NM_000038.6(APC):c.3880C>T:p.Gln1294Ter	coding	Pathogenic
5	112839503	A	G	A112839503G	APC	NM_000038.6(APC):c.3909A>G:p.Gln1303=	coding	Benign/Likely_benign
5	112839510	G	T	G112839510T	APC	NM_000038.6(APC):c.3916G>T:p.Glu1306Ter	coding	Pathogenic
5	112839519	G	T	G112839519T	APC	NM_000038.6(APC):c.3925G>T:p.Glu1309Ter	coding	Pathogenic
5	112839538	C	A	C112839538A	APC	NM_000038.6(APC):c.3944C>A:p.Ser1315Ter	coding	Pathogenic
5	112839557	C	T	C112839557T	APC	NM_000038.6(APC):c.3963C>T:p.Ser1321=	coding	Benign/Likely_benign
5	112839574	C	G	C112839574G	APC	NM_000038.6(APC):c.3980C>G:p.Ser1327Ter	coding	Pathogenic
5	112839576	C	T	C112839576T	APC	NM_000038.6(APC):c.3982C>T:p.Gln1328Ter	coding	Pathogenic
5	112839600	A	T	A112839600T	APC	NM_000038.6(APC):c.4006A>T:p.Arg1336Ter	coding	Pathogenic
5	112839606	C	T	C112839606T	APC	NM_000038.6(APC):c.4012C>T:p.Gln1338Ter	coding	Pathogenic
5	112839619	T	G	T112839619G	APC	NM_000038.6(APC):c.4025T>G:p.Leu1342Ter	coding	Pathogenic
5	112839625	C	G	C112839625G	APC	NM_000038.6(APC):c.4031C>G:p.Ser1344Ter	coding	Pathogenic
5	112839627	G	T	G112839627T	APC	NM_000038.6(APC):c.4033G>T:p.Glu1345Ter	coding	Pathogenic
5	112839651	G	T	G112839651T	APC	NM_000038.6(APC):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
5	112839661	C	G	C112839661G	APC	NM_000038.6(APC):c.4067C>G:p.Ser1356Ter	coding	Pathogenic
5	112839668	G	A	G112839668A	APC	NM_000038.6(APC):c.4074G>A:p.Ala1358=	coding	Benign/Likely_benign
5	112839726	C	T	C112839726T	APC	NM_000038.6(APC):c.4132C>T:p.Gln1378Ter	coding	Pathogenic
5	112839728	G	A	G112839728A	APC	NM_000038.6(APC):c.4134G>A:p.Gln1378=	coding	Benign/Likely_benign
5	112839769	C	A	C112839769A	APC	NM_000038.6(APC):c.4175C>A:p.Ser1392Ter	coding	Pathogenic
5	112839777	A	T	A112839777T	APC	NM_000038.6(APC):c.4183A>T:p.Ser1395Cys	coding	Pathogenic
5	112839806	C	A	C112839806A	APC	NM_000038.6(APC):c.4212C>A:p.Ser1404=	coding	Benign/Likely_benign
5	112839810	C	T	C112839810T	APC	NM_000038.6(APC):c.4216C>T:p.Gln1406Ter	coding	Pathogenic
5	112839920	T	A	T112839920A	APC	NM_000038.6(APC):c.4326T>A:p.Pro1442=	coding	Benign/Likely_benign
5	112839930	G	A	G112839930A	APC	NM_000038.6(APC):c.4336G>A:p.Ala1446Thr	coding	Benign/Likely_benign
5	112839942	C	T	C112839942T	APC	NM_000038.6(APC):c.4348C>T:p.Arg1450Ter	coding	Pathogenic
5	112839999	C	T	C112839999T	APC	NM_000038.6(APC):c.4405C>T:p.Gln1469Ter	coding	Pathogenic
5	112840014	G	A	G112840014A	APC	NM_000038.6(APC):c.4420G>A:p.Ala1474Thr	coding	Benign/Likely_benign
5	112840060	T	G	T112840060G	APC	NM_000038.6(APC):c.4466T>G:p.Leu1489Ter	coding	Pathogenic
5	112840073	G	A	G112840073A	APC	NM_000038.6(APC):c.4479G>A:p.Thr1493=	coding	Benign
5	112840143	C	T	C112840143T	APC	NM_000038.6(APC):c.4549C>T:p.Gln1517Ter	coding	Pathogenic
5	112840179	C	T	C112840179T	APC	NM_000038.6(APC):c.4585C>T:p.Gln1529Ter	coding	Pathogenic
5	112840215	C	T	C112840215T	APC	NM_000038.6(APC):c.4621C>T:p.Gln1541Ter	coding	Pathogenic
5	112840228	C	A	C112840228A	APC	NM_000038.6(APC):c.4634C>A:p.Ser1545Ter	coding	Pathogenic
5	112840239	C	T	C112840239T	APC	NM_000038.6(APC):c.4645C>T:p.Gln1549Ter	coding	Pathogenic
5	112840254	G	T	G112840254T	APC	NM_000038.6(APC):c.4660G>T:p.Glu1554Ter	coding	Pathogenic
5	112840294	C	G	C112840294G	APC	NM_000038.6(APC):c.4700C>G:p.Ser1567Ter	coding	Pathogenic
5	112840320	G	T	G112840320T	APC	NM_000038.6(APC):c.4726G>T:p.Glu1576Ter	coding	Pathogenic
5	112840354	C	A	C112840354A	APC	NM_000038.6(APC):c.4760C>A:p.Ser1587Ter	coding	Pathogenic
5	112840390	C	G	C112840390G	APC	NM_000038.6(APC):c.4796C>G:p.Ser1599Ter	coding	Pathogenic
5	112840425	C	T	C112840425T	APC	NM_000038.6(APC):c.4831C>T:p.Gln1611Ter	coding	Pathogenic/Likely_pathogenic
5	112840487	T	C	T112840487C	APC	NM_000038.6(APC):c.4893T>C:p.Ser1631=	coding	Benign/Likely_benign
5	112840499	G	A	G112840499A	APC	NM_000038.6(APC):c.4905G>A:p.Gly1635=	coding	Benign/Likely_benign
5	112840581	G	T	G112840581T	APC	NM_000038.6(APC):c.4987G>T:p.Glu1663Ter	coding	Pathogenic
5	112840611	G	T	G112840611T	APC	NM_000038.6(APC):c.5017G>T:p.Glu1673Ter	coding	Pathogenic
5	112840619	T	G	T112840619G	APC	NM_000038.6(APC):c.5025T>G:p.Val1675=	coding	Benign/Likely_benign
5	112840628	G	A	G112840628A	APC	NM_000038.6(APC):c.5034G>A:p.Gly1678=	coding	Benign
5	112840632	C	T	C112840632T	APC	NM_000038.6(APC):c.5038C>T:p.Gln1680Ter	coding	Pathogenic/Likely_pathogenic
5	112840653	C	T	C112840653T	APC	NM_000038.6(APC):c.5059C>T:p.Arg1687Ter	coding	Pathogenic
5	112840695	C	T	C112840695T	APC	NM_000038.6(APC):c.5101C>T:p.Gln1701Ter	coding	Pathogenic
5	112840844	C	G	C112840844G	APC	NM_000038.6(APC):c.5250C>G:p.Val1750=	coding	Benign
5	112840844	C	T	C112840844T	APC	NM_000038.6(APC):c.5250C>T:p.Val1750=	coding	Benign/Likely_benign
5	112840859	G	A	G112840859A	APC	NM_000038.6(APC):c.5265G>A:p.Ala1755=	coding	Benign/Likely_benign
5	112840862	T	A	T112840862A	APC	NM_000038.6(APC):c.5268T>A:p.Ser1756=	coding	Benign/Likely_benign
5	112840862	T	G	T112840862G	APC	NM_000038.6(APC):c.5268T>G:p.Ser1756=	coding	Benign
5	112840865	T	C	T112840865C	APC	NM_000038.6(APC):c.5271T>C:p.Ser1757=	coding	Benign/Likely_benign
5	112840868	T	A	T112840868A	APC	NM_000038.6(APC):c.5274T>A:p.Ser1758=	coding	Benign/Likely_benign
5	112840892	T	C	T112840892C	APC	NM_000038.6(APC):c.5298T>C:p.Asp1766=	coding	Benign/Likely_benign
5	112840935	C	T	C112840935T	APC	NM_000038.6(APC):c.5341C>T:p.Gln1781Ter	coding	Pathogenic
5	112840978	C	G	C112840978G	APC	NM_000038.6(APC):c.5384C>G:p.Ser1795Ter	coding	Pathogenic
5	112841026	C	G	C112841026G	APC	NM_000038.6(APC):c.5432C>G:p.Ser1811Ter	coding	Pathogenic
5	112841059	T	A	T112841059A	APC	NM_000038.6(APC):c.5465T>A:p.Val1822Asp	coding	Benign
5	112841166	C	T	C112841166T	APC	NM_000038.6(APC):c.5572C>T:p.Arg1858Ter	coding	Pathogenic
5	112841358	C	T	C112841358T	APC	NM_000038.6(APC):c.5764C>T:p.Gln1922Ter	coding	Pathogenic
5	112841384	A	G	A112841384G	APC	NM_000038.6(APC):c.5790A>G:p.Gln1930=	coding	Benign/Likely_benign
5	112841399	G	A	G112841399A	APC	NM_000038.6(APC):c.5805G>A:p.Gln1935=	coding	Benign/Likely_benign
5	112841474	G	A	G112841474A	APC	NM_000038.6(APC):c.5880G>A:p.Pro1960=	coding	Benign
5	112841538	A	T	A112841538T	APC	NM_000038.6(APC):c.5944A>T:p.Lys1982Ter	coding	Pathogenic
5	112841659	C	G	C112841659G	APC	NM_000038.6(APC):c.6065C>G:p.Ser2022Ter	coding	Pathogenic
5	112841729	C	T	C112841729T	APC	NM_000038.6(APC):c.6135C>T:p.Ser2045=	coding	Benign/Likely_benign
5	112841813	T	G	T112841813G	APC	NM_000038.6(APC):c.6219T>G:p.Gly2073=	coding	Benign/Likely_benign
5	112841938	T	A	T112841938A	APC	NM_000038.6(APC):c.6344T>A:p.Leu2115Ter	coding	Pathogenic
5	112841938	T	G	T112841938G	APC	NM_000038.6(APC):c.6344T>G:p.Leu2115Ter	coding	Pathogenic
5	112841965	T	A	T112841965A	APC	NM_000038.6(APC):c.6371T>A:p.Leu2124Ter	coding	Pathogenic/Likely_pathogenic
5	112841981	G	A	G112841981A	APC	NM_000038.6(APC):c.6387G>A:p.Ser2129=	coding	Benign/Likely_benign
5	112841989	C	G	C112841989G	APC	NM_000038.6(APC):c.6395C>G:p.Ser2132Ter	coding	Pathogenic
5	112842090	C	T	C112842090T	APC	NM_000038.6(APC):c.6496C>T:p.Arg2166Ter	coding	Pathogenic
5	112842104	A	C	A112842104C	APC	NM_000038.6(APC):c.6510A>C:p.Pro2170=	coding	Benign/Likely_benign
5	112842203	T	C	T112842203C	APC	NM_000038.6(APC):c.6609T>C:p.Val2203=	coding	Benign/Likely_benign
5	112842204	C	T	C112842204T	APC	NM_000038.6(APC):c.6610C>T:p.Arg2204Ter	coding	Pathogenic/Likely_pathogenic
5	112842263	A	G	A112842263G	APC	NM_000038.6(APC):c.6669A>G:p.Ser2223=	coding	Benign/Likely_benign
5	112842270	C	T	C112842270T	APC	NM_000038.6(APC):c.6676C>T:p.Arg2226Ter	coding	Pathogenic
5	112842303	C	T	C112842303T	APC	NM_000038.6(APC):c.6709C>T:p.Arg2237Ter	coding	Pathogenic
5	112842336	A	T	A112842336T	APC	NM_000038.6(APC):c.6742A>T:p.Lys2248Ter	coding	Pathogenic
5	112842415	C	T	C112842415T	APC	NM_000038.6(APC):c.6821C>T:p.Ala2274Val	coding	Benign/Likely_benign
5	112842456	C	T	C112842456T	APC	NM_000038.6(APC):c.6862C>T:p.Gln2288Ter	coding	Pathogenic
5	112842465	C	T	C112842465T	APC	NM_000038.6(APC):c.6871C>T:p.Gln2291Ter	coding	Pathogenic
5	112842499	C	G	C112842499G	APC	NM_000038.6(APC):c.6905C>G:p.Ser2302Ter	coding	Pathogenic
5	112842515	G	A	G112842515A	APC	NM_000038.6(APC):c.6921G>A:p.Ser2307=	coding	Benign/Likely_benign
5	112842542	A	G	A112842542G	APC	NM_000038.6(APC):c.6948A>G:p.Pro2316=	coding	Benign/Likely_benign
5	112842570	C	T	C112842570T	APC	NM_000038.6(APC):c.6976C>T:p.Arg2326Ter	coding	Pathogenic/Likely_pathogenic
5	112842614	C	T	C112842614T	APC	NM_000038.6(APC):c.7020C>T:p.Asn2340=	coding	Benign/Likely_benign
5	112842663	A	T	A112842663T	APC	NM_000038.6(APC):c.7069A>T:p.Lys2357Ter	coding	Pathogenic
5	112842689	A	G	A112842689G	APC	NM_000038.6(APC):c.7095A>G:p.Ser2365=	coding	Benign/Likely_benign
5	112842708	C	T	C112842708T	APC	NM_000038.6(APC):c.7114C>T:p.Gln2372Ter	coding	Pathogenic
5	112842731	C	G	C112842731G	APC	NM_000038.6(APC):c.7137C>G:p.Thr2379=	coding	Benign/Likely_benign
5	112842795	C	T	C112842795T	APC	NM_000038.6(APC):c.7201C>T:p.Leu2401=	coding	Benign
5	112842865	C	G	C112842865G	APC	NM_000038.6(APC):c.7271C>G:p.Ser2424Ter	coding	Pathogenic
5	112842889	C	G	C112842889G	APC	NM_000038.6(APC):c.7295C>G:p.Ser2432Ter	coding	Pathogenic
5	112842989	T	C	T112842989C	APC	NM_000038.6(APC):c.7395T>C:p.Leu2465=	coding	Benign/Likely_benign
5	112843032	C	T	C112843032T	APC	NM_000038.6(APC):c.7438C>T:p.Gln2480Ter	coding	Pathogenic
5	112843092	C	T	C112843092T	APC	NM_000038.6(APC):c.7498C>T:p.Gln2500Ter	coding	Pathogenic
5	112843098	G	A	G112843098A	APC	NM_000038.6(APC):c.7504G>A:p.Gly2502Ser	coding	Benign
5	112843105	G	A	G112843105A	APC	NM_000038.6(APC):c.7511G>A:p.Trp2504Ter	coding	Pathogenic
5	112843106	G	A	G112843106A	APC	NM_000038.6(APC):c.7512G>A:p.Trp2504Ter	coding	Pathogenic
5	112843107	C	T	C112843107T	APC	NM_000038.6(APC):c.7513C>T:p.Arg2505Ter	coding	Pathogenic/Likely_pathogenic
5	112843108	G	A	G112843108A	APC	NM_000038.6(APC):c.7514G>A:p.Arg2505Gln	coding	Benign/Likely_benign
5	112843272	C	T	C112843272T	APC	NM_000038.6(APC):c.7678C>T:p.Arg2560Ter	coding	Pathogenic
5	112843298	A	G	A112843298G	APC	NM_000038.6(APC):c.7704A>G:p.Gly2568=	coding	Benign
5	112843303	C	G	C112843303G	APC	NM_000038.6(APC):c.7709C>G:p.Ser2570Ter	coding	Pathogenic
5	112843309	C	G	C112843309G	APC	NM_000038.6(APC):c.7715C>G:p.Ser2572Ter	coding	Pathogenic/Likely_pathogenic
5	112843325	A	G	A112843325G	APC	NM_000038.6(APC):c.7731A>G:p.Ser2577=	coding	Benign/Likely_benign
5	112843375	C	G	C112843375G	APC	NM_000038.6(APC):c.7781C>G:p.Ser2594Cys	coding	Benign/Likely_benign
5	112843415	C	T	C112843415T	APC	NM_000038.6(APC):c.7821C>T:p.Ser2607=	coding	Benign/Likely_benign
5	112843472	T	G	T112843472G	APC	NM_000038.6(APC):c.7878T>G:p.Thr2626=	coding	Benign/Likely_benign
5	112843637	G	C	G112843637C	APC	NM_000038.6(APC):c.8043G>C:p.Pro2681=	coding	Benign/Likely_benign
5	112843655	A	G	A112843655G	APC	NM_000038.6(APC):c.8061A>G:p.Ser2687=	coding	Benign/Likely_benign
5	112843662	G	A	G112843662A	APC	NM_000038.6(APC):c.8068G>A:p.Ala2690Thr	coding	Benign/Likely_benign
5	112843849	A	C	A112843849C	APC	NM_000038.6(APC):c.8255A>C:p.Asn2752Thr	coding	Benign
5	112843919	G	A	G112843919A	APC	NM_000038.6(APC):c.8325G>A:p.Gly2775=	coding	Benign/Likely_benign
5	112844108	C	G	C112844108G	APC	NM_000038.6(APC):c.8514C>G:p.Tyr2838Ter	coding	Pathogenic/Likely_pathogenic
5	112844212	C	A	C112844212A	APC	NM_000038.6(APC):c.*86C>A	noncoding	Benign
5	112844374	A	G	A112844374G	APC	NM_000038.6(APC):c.*248A>G	noncoding	Benign
5	112844392	C	A	C112844392A	APC	NM_000038.6(APC):c.*266C>A	noncoding	Benign
5	112844560	C	T	C112844560T	APC	NM_000038.6(APC):c.*434C>T	noncoding	Benign
5	112844781	G	T	G112844781T	APC	NM_000038.6(APC):c.*655G>T	noncoding	Benign
5	112845176	T	C	T112845176C	APC	NM_000038.6(APC):c.*1050T>C	noncoding	Benign
5	112845224	T	C	T112845224C	APC	NM_000038.6(APC):c.*1098T>C	noncoding	Benign
5	112845290	G	A	G112845290A	APC	NM_000038.6(APC):c.*1164G>A	noncoding	Benign
5	112845329	A	C	A112845329C	APC	NM_000038.6(APC):c.*1203A>C	noncoding	Benign
5	112845586	C	T	C112845586T	APC	NM_000038.6(APC):c.*1460C>T	noncoding	Benign
5	112845682	C	G	C112845682G	APC	NM_000038.6(APC):c.*1556C>G	noncoding	Benign
5	112845879	G	A	G112845879A	APC	NM_000038.6(APC):c.*1753G>A	noncoding	Benign
5	112846044	G	C	G112846044C	APC	NM_000038.6(APC):c.*1918G>C	noncoding	Benign
5	112846131	T	G	T112846131G	APC	NM_000038.6(APC):c.*2005T>G	noncoding	Benign
5	112864533	G	A	G112864533A	SRP19	NM_003135.3(SRP19):c.189+5G>A	noncoding	Pathogenic
5	113028992	T	A	T113028992A	MCC	NM_001085377.2(MCC):c.2821A>T:p.Ser941Cys	coding	Benign
5	113043623	G	A	G113043623A	MCC	NM_001085377.2(MCC):c.2663C>T:p.Ala888Val	coding	Pathogenic
5	113053758	G	A	G113053758A	MCC	NM_001085377.2(MCC):c.2415C>T:p.Asn805=	coding	Benign
5	113064054	C	G	C113064054G	MCC	NM_001085377.2(MCC):c.2143G>C:p.Gly715Arg	coding	Benign
5	113064110	C	T	C113064110T	MCC	NM_001085377.2(MCC):c.2087G>A:p.Arg696Gln	coding	Pathogenic
5	113071117	C	T	C113071117T	MCC	NM_001085377.2(MCC):c.1902G>A:p.Ala634=	coding	Benign
5	113071231	C	A	C113071231A	MCC	NM_001085377.2(MCC):c.1788G>T:p.Arg596=	coding	Benign
5	113071238	C	A	C113071238A	MCC	NM_001085377.2(MCC):c.1785-4G>T	noncoding	Benign
5	113084091	G	C	G113084091C	MCC	NM_001085377.2(MCC):c.1635+10C>G	noncoding	Benign
5	113340600	C	T	C113340600T	MCC	NM_001085377.2(MCC):c.546G>A:p.Gln182=	coding	Benign
5	113513930	C	T	C113513930T	YTHDC2	NM_022828.5(YTHDC2):c.35C>T:p.Pro12Leu	coding	Benign
5	113534404	C	T	C113534404T	YTHDC2	NM_022828.5(YTHDC2):c.942C>T:p.Ile314=	coding	Benign
5	113535761	C	G	C113535761G	YTHDC2	NM_022828.5(YTHDC2):c.1065C>G:p.Leu355=	coding	Benign
5	113539135	A	G	A113539135G	YTHDC2	NM_022828.5(YTHDC2):c.1164A>G:p.Gly388=	coding	Benign
5	113542460	C	T	C113542460T	YTHDC2	NM_022828.5(YTHDC2):c.1452C>T:p.Ala484=	coding	Benign
5	113548532	T	C	T113548532C	YTHDC2	NM_022828.5(YTHDC2):c.1496-9T>C	noncoding	Benign
5	113553581	T	C	T113553581C	YTHDC2	NM_022828.5(YTHDC2):c.1868-9T>C	noncoding	Benign
5	113591071	A	G	A113591071G	YTHDC2	NM_022828.5(YTHDC2):c.3856A>G:p.Met1286Val	coding	Benign
5	114363255	C	A	C114363255A	KCNN2	NM_021614.4(KCNN2):c.1116C>A:p.Tyr372Ter	coding	Pathogenic
5	114463124	T	G	T114463124G	KCNN2	NM_021614.4(KCNN2):c.1713T>G:p.Ile571Met	coding	Pathogenic
5	114463131	G	A	G114463131A	KCNN2	NM_021614.4(KCNN2):c.1720G>A:p.Gly574Ser	coding	Pathogenic
5	114473072	C	G	C114473072G	KCNN2	NM_021614.4(KCNN2):c.1798C>G:p.Leu600Val	coding	Pathogenic
5	114487090	T	C	T114487090C	KCNN2	NM_021614.4(KCNN2):c.1931T>C:p.Leu644Pro	coding	Pathogenic
5	115126517	G	C	G115126517C	TRIM36	NM_001300759.2(TRIM36):c.2137C>G:p.Gln713Glu	coding	Benign
5	115133872	G	T	G115133872T	TRIM36	NM_001300759.2(TRIM36):c.1486C>A:p.Pro496Thr	coding	Pathogenic
5	115144616	A	G	A115144616G	TRIM36	NM_001300759.2(TRIM36):c.717T>C:p.Ser239=	coding	Benign
5	115163666	A	G	A115163666G	TRIM36	NM_001300759.2(TRIM36):c.114T>C:p.His38=	coding	Benign
5	115163738	A	G	A115163738G	TRIM36	NM_001300759.2(TRIM36):c.42T>C:p.Asn14=	coding	Benign
5	115271342	T	C	T115271342C	CCDC112	NM_001040440.3(CCDC112):c.1203A>G:p.Leu401=	coding	Benign
5	115271595	T	C	T115271595C	CCDC112	NM_001040440.3(CCDC112):c.950A>G:p.Gln317Arg	coding	Benign
5	115275504	T	C	T115275504C	CCDC112	NM_001040440.3(CCDC112):c.630A>G:p.Lys210=	coding	Benign
5	115275576	T	C	T115275576C	CCDC112	NM_001040440.3(CCDC112):c.558A>G:p.Thr186=	coding	Benign
5	115284831	A	T	A115284831T	CCDC112	NM_001040440.3(CCDC112):c.195T>A:p.Thr65=	coding	Benign
5	115524700	G	A	G115524700A	FEM1C	NM_020177.3(FEM1C):c.1462C>T:p.Leu488=	coding	Benign
5	115580654	T	G	T115580654G	TICAM2	NM_021649.7(TICAM2):c.603A>C:p.Gly201=	coding	Benign
5	115581066	C	T	C115581066T	TICAM2	NM_021649.7(TICAM2):c.191G>A:p.Ser64Asn	coding	Benign
5	115913381	C	T	C115913381T	AP3S1	NM_001284.4(AP3S1):c.473C>T:p.Pro158Leu	coding	Benign
5	116000438	G	A	G116000438A	LVRN	NM_173800.5(LVRN):c.1521G>A:p.Ala507=	coding	Benign
5	116015315	G	A	G116015315A	LVRN	NM_173800.5(LVRN):c.2514G>A:p.Glu838=	coding	Benign
5	116022440	G	A	G116022440A	LVRN	NM_173800.5(LVRN):c.2806G>A:p.Val936Ile	coding	Benign
5	116446797	T	G	T116446797G	SEMA6A	NM_020796.5(SEMA6A):c.2909A>C:p.Gln970Pro	coding	Benign
5	116488132	T	C	T116488132C	SEMA6A	NM_020796.5(SEMA6A):c.720A>G:p.Ala240=	coding	Benign
5	116491795	G	A	G116491795A	SEMA6A	NM_020796.5(SEMA6A):c.480C>T:p.Ser160=	coding	Benign
5	116491810	G	A	G116491810A	SEMA6A	NM_020796.5(SEMA6A):c.465C>T:p.Phe155=	coding	Benign
5	116497336	A	G	A116497336G	SEMA6A	NM_020796.5(SEMA6A):c.270T>C:p.Tyr90=	coding	Benign
5	116502230	T	C	T116502230C	SEMA6A	NM_020796.5(SEMA6A):c.198A>G:p.Gly66=	coding	Benign
5	119071605	C	T	C119071605T	DMXL1	NM_005509.6(DMXL1):c.36C>T:p.Asn12=	coding	Benign
5	119116244	C	T	C119116244T	DMXL1	NM_005509.6(DMXL1):c.651C>T:p.Ser217=	coding	Benign
5	119129269	C	T	C119129269T	DMXL1	NM_005509.6(DMXL1):c.1161C>T:p.Thr387=	coding	Benign
5	119133212	A	C	A119133212C	DMXL1	NM_005509.6(DMXL1):c.1396A>C:p.Ser466Arg	coding	Benign
5	119148945	A	G	A119148945G	DMXL1	NM_005509.6(DMXL1):c.3118A>G:p.Ile1040Val	coding	Benign
5	119149146	G	T	G119149146T	DMXL1	NM_005509.6(DMXL1):c.3319G>T:p.Asp1107Tyr	coding	Benign
5	119149274	C	T	C119149274T	DMXL1	NM_005509.6(DMXL1):c.3447C>T:p.Asp1149=	coding	Benign
5	119149784	C	T	C119149784T	DMXL1	NM_005509.6(DMXL1):c.3957C>T:p.Ser1319=	coding	Benign
5	119150021	A	G	A119150021G	DMXL1	NM_005509.6(DMXL1):c.4194A>G:p.Thr1398=	coding	Benign
5	119170568	A	G	A119170568G	DMXL1	NM_005509.6(DMXL1):c.5777A>G:p.Gln1926Arg	coding	Benign
5	119170744	G	C	G119170744C	DMXL1	NM_005509.6(DMXL1):c.5953G>C:p.Glu1985Gln	coding	Benign
5	119170789	A	G	A119170789G	DMXL1	NM_005509.6(DMXL1):c.5998A>G:p.Ile2000Val	coding	Benign
5	119171262	T	G	T119171262G	DMXL1	NM_005509.6(DMXL1):c.6471T>G:p.Leu2157=	coding	Benign
5	119193901	A	G	A119193901G	DMXL1	NM_005509.6(DMXL1):c.7388A>G:p.Asn2463Ser	coding	Benign
5	119197942	A	G	A119197942G	DMXL1	NM_005509.6(DMXL1):c.7731A>G:p.Thr2577=	coding	Benign
5	119220474	A	G	A119220474G	DMXL1	NM_005509.6(DMXL1):c.7953A>G:p.Ala2651=	coding	Benign
5	119244447	A	G	A119244447G	DMXL1	NM_005509.6(DMXL1):c.8730A>G:p.Thr2910=	coding	Benign
5	119452501	C	G	C119452501G	HSD17B4	NM_000414.4(HSD17B4):c.-75C>G	noncoding	Benign
5	119452548	C	T	C119452548T	HSD17B4	NM_000414.4(HSD17B4):c.-28C>T	noncoding	Benign/Likely_benign
5	119452549	G	C	G119452549C	HSD17B4	NM_000414.4(HSD17B4):c.-27G>C	noncoding	Benign/Likely_benign
5	119452621	G	A	G119452621A	HSD17B4	NM_000414.4(HSD17B4):c.46G>A:p.Gly16Ser	coding	Pathogenic/Likely_pathogenic
5	119452634	G	C	G119452634C	HSD17B4	NM_000414.4(HSD17B4):c.58+1G>C	coding	Pathogenic
5	119456282	C	G	C119456282G	HSD17B4	NM_000414.4(HSD17B4):c.59-33C>G	noncoding	Benign
5	119475699	A	G	A119475699G	HSD17B4	NM_000414.4(HSD17B4):c.281-7A>G	noncoding	Benign
5	119475838	G	A	G119475838A	HSD17B4	NM_000414.4(HSD17B4):c.317G>A:p.Arg106His	coding	Benign
5	119475838	G	C	G119475838C	HSD17B4	NM_000414.4(HSD17B4):c.317G>C:p.Arg106Pro	coding	Pathogenic
5	119475909	T	C	T119475909C	HSD17B4	NM_000414.4(HSD17B4):c.349+39T>C	noncoding	Benign
5	119477487	A	T	A119477487T	HSD17B4	NM_000414.4(HSD17B4):c.420A>T:p.Lys140Asn	coding	Benign
5	119489219	A	G	A119489219G	HSD17B4	NM_000414.4(HSD17B4):c.650A>G:p.Tyr217Cys	coding	Pathogenic
5	119489235	C	G	C119489235G	HSD17B4	NM_000414.4(HSD17B4):c.666C>G:p.Val222=	coding	Benign/Likely_benign
5	119492087	C	T	C119492087T	HSD17B4	NM_000414.4(HSD17B4):c.715-13C>T	noncoding	Benign/Likely_benign
5	119492147	T	C	T119492147C	HSD17B4	NM_000414.4(HSD17B4):c.739+23T>C	noncoding	Benign
5	119493820	C	T	C119493820T	HSD17B4	NM_000414.4(HSD17B4):c.742C>T:p.Arg248Cys	coding	Pathogenic/Likely_pathogenic
5	119496549	C	G	C119496549G	HSD17B4	NM_000414.4(HSD17B4):c.875C>G:p.Thr292Ser	coding	Benign/Likely_benign
5	119496622	A	G	A119496622G	HSD17B4	NM_000414.4(HSD17B4):c.948A>G:p.Ala316=	coding	Benign/Likely_benign
5	119499403	G	A	G119499403A	HSD17B4	NM_000414.4(HSD17B4):c.1059G>A:p.Ala353=	coding	Benign/Likely_benign
5	119499491	C	T	C119499491T	HSD17B4	NM_000414.4(HSD17B4):c.1147C>T:p.Gln383Ter	coding	Pathogenic
5	119499536	T	C	T119499536C	HSD17B4	NM_000414.4(HSD17B4):c.1192T>C:p.Ser398Pro	coding	Benign
5	119509176	A	T	A119509176T	HSD17B4	NM_000414.4(HSD17B4):c.1369A>T:p.Asn457Tyr	coding	Pathogenic/Likely_pathogenic
5	119509231	C	G	C119509231G	HSD17B4	NM_000414.4(HSD17B4):c.1424C>G:p.Ser475Ter	coding	Pathogenic
5	119509269	A	C	A119509269C	HSD17B4	NM_000414.4(HSD17B4):c.1437+25A>C	noncoding	Benign
5	119514980	G	A	G119514980A	HSD17B4	NM_000414.4(HSD17B4):c.1438-1G>A	noncoding	Pathogenic
5	119515014	G	A	G119515014A	HSD17B4	NM_000414.4(HSD17B4):c.1471G>A:p.Ala491Thr	coding	Benign/Likely_benign
5	119525228	C	T	C119525228T	HSD17B4	NM_000414.4(HSD17B4):c.1516C>T:p.Arg506Cys	coding	Pathogenic/Likely_pathogenic
5	119525243	T	C	T119525243C	HSD17B4	NM_000414.4(HSD17B4):c.1531T>C:p.Trp511Arg	coding	Benign
5	119526018	A	G	A119526018G	HSD17B4	NM_000414.4(HSD17B4):c.1675A>G:p.Ile559Val	coding	Benign
5	119527156	T	A	T119527156A	HSD17B4	NM_000414.4(HSD17B4):c.1704T>A:p.Tyr568Ter	coding	Pathogenic
5	119527227	T	C	T119527227C	HSD17B4	NM_000414.4(HSD17B4):c.1767+8T>C	noncoding	Benign/Likely_benign
5	119529917	C	T	C119529917T	HSD17B4	NM_000414.4(HSD17B4):c.1791C>T:p.Val597=	coding	Benign
5	119531405	G	A	G119531405A	HSD17B4	NM_000414.4(HSD17B4):c.1993+1G>A	coding	Pathogenic
5	119536458	C	T	C119536458T	HSD17B4	NM_000414.4(HSD17B4):c.2029C>T:p.Gln677Ter	coding	Pathogenic/Likely_pathogenic
5	119536489	C	T	C119536489T	HSD17B4	NM_000414.4(HSD17B4):c.2060C>T:p.Thr687Ile	coding	Benign
5	119541965	A	G	A119541965G	HSD17B4	NM_000414.4(HSD17B4):c.2182A>G:p.Met728Val	coding	Benign
5	119541982	C	T	C119541982T	HSD17B4	NM_000414.4(HSD17B4):c.2199C>T:p.Tyr733=	coding	Benign
5	119542000	A	G	A119542000G	HSD17B4	NM_000414.4(HSD17B4):c.*6A>G	noncoding	Benign
5	119542254	A	G	A119542254G	HSD17B4	NM_000414.4(HSD17B4):c.*260A>G	noncoding	Benign
5	122070581	A	T	A122070581T	LOX	NM_002317.7(LOX):c.1044T>A:p.Ser348Arg	coding	Pathogenic
5	122074012	C	T	C122074012T	LOX	NM_002317.7(LOX):c.1035+1G>A	noncoding	Pathogenic
5	122074130	C	T	C122074130T	LOX	NM_002317.7(LOX):c.918G>A:p.Leu306=	coding	Benign
5	122074155	A	C	A122074155C	LOX	NM_002317.7(LOX):c.893T>G:p.Met298Arg	coding	Pathogenic/Likely_pathogenic
5	122075443	C	A	C122075443A	LOX	NM_002317.7(LOX):c.839G>T:p.Ser280Ile	coding	Pathogenic
5	122075482	T	G	T122075482G	LOX	NM_002317.7(LOX):c.800A>C:p.Gln267Pro	coding	Pathogenic
5	122075539	G	A	G122075539A	LOX	NM_002317.7(LOX):c.743C>T:p.Thr248Ile	coding	Pathogenic
5	122076887	C	T	C122076887T	LOX	NM_002317.7(LOX):c.740+6G>A	noncoding	Benign
5	122077345	G	A	G122077345A	LOX	NM_002317.7(LOX):c.631+10C>T	noncoding	Benign
5	122077382	C	A	C122077382A	LOX	NM_002317.7(LOX):c.604G>T:p.Gly202Ter	coding	Pathogenic
5	122077452	A	G	A122077452G	LOX	NM_002317.7(LOX):c.534T>C:p.Ser178=	coding	Benign
5	122077510	G	T	G122077510T	LOX	NM_002317.7(LOX):c.476C>A:p.Pro159Gln	coding	Benign/Likely_benign
5	122077513	C	T	C122077513T	LOX	NM_002317.7(LOX):c.473G>A:p.Arg158Gln	coding	Benign
5	122077526	G	A	G122077526A	LOX	NM_002317.7(LOX):c.460C>T:p.Leu154Phe	coding	Benign
5	122077591	G	A	G122077591A	LOX	NM_002317.7(LOX):c.395C>T:p.Ser132Phe	coding	Benign
5	122077678	C	G	C122077678G	LOX	NM_002317.7(LOX):c.308G>C:p.Arg103Pro	coding	Benign
5	122077761	G	C	G122077761C	LOX	NM_002317.7(LOX):c.225C>G:p.Ala75=	coding	Benign
5	122077782	G	A	G122077782A	LOX	NM_002317.7(LOX):c.204C>T:p.Arg68=	coding	Benign
5	122077869	C	G	C122077869G	LOX	NM_002317.7(LOX):c.117G>C:p.Pro39=	coding	Benign
5	122152254	G	A	G122152254A	ZNF474	NM_207317.3(ZNF474):c.264G>A:p.Pro88=	coding	Benign
5	122152259	G	A	G122152259A	ZNF474	NM_207317.3(ZNF474):c.269G>A:p.Arg90His	coding	Benign
5	122152276	G	T	G122152276T	ZNF474	NM_207317.3(ZNF474):c.286G>T:p.Val96Leu	coding	Benign
5	122152585	T	C	T122152585C	ZNF474	NM_207317.3(ZNF474):c.595T>C:p.Ser199Pro	coding	Benign
5	122152658	T	C	T122152658C	ZNF474	NM_207317.3(ZNF474):c.668T>C:p.Ile223Thr	coding	Benign
5	122312282	C	G	C122312282G	SNCAIP	NM_005460.4(SNCAIP):c.-49C>G	noncoding	Benign
5	122403816	G	A	G122403816A	SNCAIP	NM_005460.4(SNCAIP):c.81G>A:p.Thr27=	coding	Benign
5	122423154	G	A	G122423154A	SNCAIP	NM_005460.4(SNCAIP):c.417G>A:p.Ser139=	coding	Benign
5	122423313	C	T	C122423313T	SNCAIP	NM_005460.4(SNCAIP):c.576C>T:p.Cys192=	coding	Benign
5	122423373	C	T	C122423373T	SNCAIP	NM_005460.4(SNCAIP):c.636C>T:p.Pro212=	coding	Benign/Likely_benign
5	122425483	C	T	C122425483T	SNCAIP	NM_005460.4(SNCAIP):c.1134C>T:p.Leu378=	coding	Benign
5	122432004	C	T	C122432004T	SNCAIP	NM_005460.4(SNCAIP):c.1218C>T:p.Ser406=	coding	Benign
5	122450572	A	G	A122450572G	SNCAIP	NM_005460.4(SNCAIP):c.1725A>G:p.Lys575=	coding	Benign
5	122450972	G	C	G122450972C	SNCAIP	NM_005460.4(SNCAIP):c.2125G>C:p.Glu709Gln	coding	Benign/Likely_benign
5	122450978	A	G	A122450978G	SNCAIP	NM_005460.4(SNCAIP):c.2131A>G:p.Met711Val	coding	Benign
5	122451264	G	A	G122451264A	SNCAIP	NM_005460.4(SNCAIP):c.2417G>A:p.Arg806His	coding	Benign
5	122451295	T	C	T122451295C	SNCAIP	NM_005460.4(SNCAIP):c.2448T>C:p.Val816=	coding	Benign
5	122463566	C	G	C122463566G	SNCAIP	NM_005460.4(SNCAIP):c.*70C>G	coding	Benign
5	122463810	T	C	T122463810C	SNCAIP	NM_005460.4(SNCAIP):c.*314T>C	noncoding	Benign
5	123099849	G	C	G123099849C	PRDM6	NM_001136239.4(PRDM6):c.788G>C:p.Cys263Ser	coding	Pathogenic
5	123170997	A	G	A123170997G	PRDM6	NM_001136239.4(PRDM6):c.1385A>G:p.Gln462Arg	coding	Pathogenic
5	123180296	G	A	G123180296A	PRDM6	NM_001136239.4(PRDM6):c.1646G>A:p.Arg549Gln	coding	Pathogenic
5	123346556	A	C	A123346556C	CEP120	NM_153223.3(CEP120):c.2924T>G:p.Ile975Ser	coding	Pathogenic
5	123378350	T	C	T123378350C	CEP120	NM_153223.3(CEP120):c.2182A>G:p.Ser728Gly	coding	Benign
5	123378355	A	G	A123378355G	CEP120	NM_153223.3(CEP120):c.2177T>C:p.Leu726Pro	coding	Pathogenic
5	123378387	A	G	A123378387G	CEP120	NM_153223.3(CEP120):c.2145T>C:p.Thr715=	coding	Benign
5	123378398	G	A	G123378398A	CEP120	NM_153223.3(CEP120):c.2134C>T:p.Leu712Phe	coding	Benign
5	123385043	C	T	C123385043T	CEP120	NM_153223.3(CEP120):c.1671G>A:p.Leu557=	coding	Benign
5	123390067	T	C	T123390067C	CEP120	NM_001375405.1(CEP120):c.1112A>G:p.Lys371Arg	coding	Benign
5	123390074	G	A	G123390074A	CEP120	NM_153223.3(CEP120):c.1105C>T:p.Pro369Ser	coding	Benign
5	123393331	C	T	C123393331T	CEP120	NM_001375405.1(CEP120):c.779G>A:p.Arg260His	coding	Benign
5	123399153	C	G	C123399153G	CEP120	NM_153223.3(CEP120):c.595G>C:p.Ala199Pro	coding	Pathogenic
5	123399167	A	G	A123399167G	CEP120	NM_153223.3(CEP120):c.581T>C:p.Val194Ala	coding	Pathogenic
5	123412411	G	A	G123412411A	CEP120	NM_153223.3(CEP120):c.451C>T:p.Arg151Ter	coding	Pathogenic
5	123412500	T	C	T123412500C	CEP120	NM_153223.3(CEP120):c.362A>G:p.Lys121Arg	coding	Benign
5	124639221	G	A	G124639221A	ZNF608	NM_020747.2(ZNF608):c.4451-7C>T	noncoding	Benign
5	126541943	A	G	A126541943G	ALDH7A1	NM_001182.5(ALDH7A1):c.*3022T>C	noncoding	Benign
5	126542390	A	G	A126542390G	ALDH7A1	NM_001182.5(ALDH7A1):c.*2575T>C	noncoding	Benign
5	126542453	C	T	C126542453T	ALDH7A1	NM_001182.5(ALDH7A1):c.*2512G>A	noncoding	Benign
5	126542466	C	T	C126542466T	ALDH7A1	NM_001182.5(ALDH7A1):c.*2499G>A	noncoding	Benign
5	126542542	G	A	G126542542A	ALDH7A1	NM_001182.5(ALDH7A1):c.*2423C>T	noncoding	Benign
5	126542711	A	T	A126542711T	ALDH7A1	NM_001182.5(ALDH7A1):c.*2254T>A	noncoding	Benign
5	126543161	G	A	G126543161A	ALDH7A1	NM_001182.5(ALDH7A1):c.*1804C>T	noncoding	Benign
5	126543216	C	A	C126543216A	ALDH7A1	NM_001182.5(ALDH7A1):c.*1749G>T	noncoding	Benign
5	126543217	A	T	A126543217T	ALDH7A1	NM_001182.5(ALDH7A1):c.*1748T>A	noncoding	Benign
5	126543224	A	T	A126543224T	ALDH7A1	NM_001182.5(ALDH7A1):c.*1741T>A	noncoding	Benign
5	126543293	T	C	T126543293C	ALDH7A1	NM_001182.5(ALDH7A1):c.*1672A>G	noncoding	Benign
5	126543519	C	T	C126543519T	ALDH7A1	NM_001182.5(ALDH7A1):c.*1446G>A	noncoding	Benign
5	126543597	T	A	T126543597A	ALDH7A1	NM_001182.5(ALDH7A1):c.*1368A>T	noncoding	Benign
5	126543853	A	C	A126543853C	ALDH7A1	NM_001182.5(ALDH7A1):c.*1112T>G	noncoding	Benign
5	126543857	C	T	C126543857T	ALDH7A1	NM_001182.5(ALDH7A1):c.*1108G>A	noncoding	Benign
5	126544239	G	A	G126544239A	ALDH7A1	NM_001182.5(ALDH7A1):c.*726C>T	noncoding	Benign
5	126544417	G	A	G126544417A	ALDH7A1	NM_001182.5(ALDH7A1):c.*548C>T	noncoding	Benign
5	126544897	T	C	T126544897C	ALDH7A1	NM_001182.5(ALDH7A1):c.*68A>G	noncoding	Benign
5	126545018	T	C	T126545018C	ALDH7A1	NM_001182.5(ALDH7A1):c.1567A>G:p.Thr523Ala	coding	Benign/Likely_benign
5	126545020	C	A	C126545020A	ALDH7A1	NM_001182.5(ALDH7A1):c.1566-1G>T	coding	Pathogenic
5	126546323	C	A	C126546323A	ALDH7A1	NM_001182.5(ALDH7A1):c.1565+1G>T	noncoding	Pathogenic
5	126546376	C	G	C126546376G	ALDH7A1	NM_001182.5(ALDH7A1):c.1513G>C:p.Gly505Arg	coding	Pathogenic
5	126549924	C	T	C126549924T	ALDH7A1	NM_001182.5(ALDH7A1):c.1489+5G>A	noncoding	Pathogenic
5	126550111	T	G	T126550111G	ALDH7A1	NM_001182.5(ALDH7A1):c.1415+85A>C	noncoding	Benign
5	126550263	C	A	C126550263A	ALDH7A1	NM_001182.5(ALDH7A1):c.1348G>T:p.Glu450Ter	coding	Pathogenic
5	126550379	C	T	C126550379T	ALDH7A1	NM_001182.5(ALDH7A1):c.1318-86G>A	noncoding	Benign
5	126552001	C	T	C126552001T	ALDH7A1	NM_001182.5(ALDH7A1):c.1317+20G>A	noncoding	Benign
5	126552019	A	G	A126552019G	ALDH7A1	NM_001182.5(ALDH7A1):c.1317+2T>C	noncoding	Pathogenic
5	126552023	T	G	T126552023G	ALDH7A1	NM_001182.5(ALDH7A1):c.1315A>C:p.Lys439Gln	coding	Benign
5	126552033	G	C	G126552033C	ALDH7A1	NM_001182.5(ALDH7A1):c.1305C>G:p.Val435=	coding	Benign/Likely_benign
5	126552046	G	A	G126552046A	ALDH7A1	NM_001182.5(ALDH7A1):c.1292C>T:p.Pro431Leu	coding	Pathogenic
5	126552051	A	G	A126552051G	ALDH7A1	NM_001182.5(ALDH7A1):c.1287T>C:p.Phe429=	coding	Benign/Likely_benign
5	126552057	C	A	C126552057A	ALDH7A1	NM_001182.5(ALDH7A1):c.1281G>T:p.Glu427Asp	coding	Pathogenic
5	126552059	C	G	C126552059G	ALDH7A1	NM_001182.5(ALDH7A1):c.1279G>C:p.Glu427Gln	coding	Pathogenic/Likely_pathogenic
5	126552104	T	C	T126552104C	ALDH7A1	NM_001182.5(ALDH7A1):c.1234A>G:p.Thr412Ala	coding	Benign
5	126552114	A	C	A126552114C	ALDH7A1	NM_001182.5(ALDH7A1):c.1224T>G:p.Tyr408Ter	coding	Pathogenic
5	126552164	A	G	A126552164G	ALDH7A1	NM_001182.5(ALDH7A1):c.1201-27T>C	noncoding	Benign
5	126554294	C	A	C126554294A	ALDH7A1	NM_001182.5(ALDH7A1):c.1193G>T:p.Gly398Val	coding	Pathogenic
5	126554413	G	C	G126554413C	ALDH7A1	NM_001182.5(ALDH7A1):c.1094-20C>G	noncoding	Benign
5	126554577	G	A	G126554577A	ALDH7A1	NM_001182.5(ALDH7A1):c.1094-184C>T	noncoding	Benign
5	126554617	A	C	A126554617C	ALDH7A1	NM_001182.5(ALDH7A1):c.1094-224T>G	noncoding	Benign
5	126555808	C	T	C126555808T	ALDH7A1	NM_001182.5(ALDH7A1):c.1093+123G>A	noncoding	Benign
5	126555824	T	A	T126555824A	ALDH7A1	NM_001182.5(ALDH7A1):c.1093+107A>T	noncoding	Benign
5	126555930	C	T	C126555930T	ALDH7A1	NM_001182.5(ALDH7A1):c.1093+1G>A	noncoding	Pathogenic
5	126555956	C	T	C126555956T	ALDH7A1	NM_001182.5(ALDH7A1):c.1068G>A:p.Gln356=	coding	Benign
5	126556021	C	T	C126556021T	ALDH7A1	NM_001182.5(ALDH7A1):c.1009-6G>A	noncoding	Benign/Likely_benign
5	126559239	C	T	C126559239T	ALDH7A1	NM_001182.5(ALDH7A1):c.1008+1G>A	noncoding	Pathogenic
5	126559244	C	T	C126559244T	ALDH7A1	NM_001182.5(ALDH7A1):c.1004G>A:p.Arg335Gln	coding	Pathogenic
5	126559245	G	A	G126559245A	ALDH7A1	NM_001182.5(ALDH7A1):c.1003C>T:p.Arg335Ter	coding	Pathogenic
5	126559262	C	T	C126559262T	ALDH7A1	NM_001182.5(ALDH7A1):c.986G>A:p.Arg329Lys	coding	Pathogenic
5	126559266	G	A	G126559266A	ALDH7A1	NM_001182.5(ALDH7A1):c.982C>T:p.Gln328Ter	coding	Pathogenic
5	126561094	T	A	T126561094A	ALDH7A1	NM_001182.5(ALDH7A1):c.902A>T:p.Asn301Ile	coding	Pathogenic
5	126568063	A	C	A126568063C	ALDH7A1	NM_001182.5(ALDH7A1):c.871+196T>G	noncoding	Benign
5	126568272	C	T	C126568272T	ALDH7A1	NM_001182.5(ALDH7A1):c.858G>A:p.Val286=	coding	Benign/Likely_benign
5	126568296	C	T	C126568296T	ALDH7A1	NM_001182.5(ALDH7A1):c.834G>A:p.Val278=	coding	Pathogenic
5	126568334	G	A	G126568334A	ALDH7A1	NM_001182.5(ALDH7A1):c.796C>T:p.Arg266Ter	coding	Pathogenic
5	126568374	C	T	C126568374T	ALDH7A1	NM_001182.5(ALDH7A1):c.774-18G>A	noncoding	Benign/Likely_benign
5	126568375	G	A	G126568375A	ALDH7A1	NM_001182.5(ALDH7A1):c.774-19C>T	noncoding	Benign
5	126568612	G	C	G126568612C	ALDH7A1	NM_001182.5(ALDH7A1):c.774-256C>G	noncoding	Benign
5	126570652	T	C	T126570652C	ALDH7A1	NM_001182.5(ALDH7A1):c.773+130A>G	noncoding	Benign
5	126575440	G	A	G126575440A	ALDH7A1	NM_001182.5(ALDH7A1):c.675C>T:p.Leu225=	coding	Benign
5	126576779	G	T	G126576779T	ALDH7A1	NM_001182.5(ALDH7A1):c.650+300C>A	noncoding	Benign
5	126577122	A	C	A126577122C	ALDH7A1	NM_001182.5(ALDH7A1):c.607T>G:p.Trp203Gly	coding	Pathogenic
5	126577133	G	A	G126577133A	ALDH7A1	NM_001182.5(ALDH7A1):c.596C>T:p.Ala199Val	coding	Pathogenic
5	126577140	G	A	G126577140A	ALDH7A1	NM_001182.5(ALDH7A1):c.589C>T:p.Pro197Ser	coding	Pathogenic/Likely_pathogenic
5	126577145	T	C	T126577145C	ALDH7A1	NM_001182.5(ALDH7A1):c.584A>G:p.Asn195Ser	coding	Pathogenic
5	126577199	G	T	G126577199T	ALDH7A1	NM_001182.5(ALDH7A1):c.530C>A:p.Ala177Glu	coding	Pathogenic
5	126577212	C	G	C126577212G	ALDH7A1	NM_001182.5(ALDH7A1):c.518-1G>C	coding	Pathogenic
5	126577223	A	C	A126577223C	ALDH7A1	NM_001182.5(ALDH7A1):c.518-12T>G	noncoding	Benign
5	126582975	C	G	C126582975G	ALDH7A1	NM_001182.5(ALDH7A1):c.394-1G>C	coding	Pathogenic
5	126583307	T	C	T126583307C	ALDH7A1	NM_001182.5(ALDH7A1):c.394-333A>G	noncoding	Benign
5	126583668	G	C	G126583668C	ALDH7A1	NM_001182.5(ALDH7A1):c.393+264C>G	noncoding	Benign
5	126583952	T	C	T126583952C	ALDH7A1	NM_001182.5(ALDH7A1):c.373A>G:p.Ile125Val	coding	Benign/Likely_benign
5	126583997	G	A	G126583997A	ALDH7A1	NM_001182.5(ALDH7A1):c.328C>T:p.Arg110Ter	coding	Pathogenic
5	126592662	A	T	A126592662T	ALDH7A1	NM_001182.5(ALDH7A1):c.312+2T>A	noncoding	Pathogenic
5	126592663	C	T	C126592663T	ALDH7A1	NM_001182.5(ALDH7A1):c.312+1G>A	noncoding	Pathogenic
5	126592703	A	G	A126592703G	ALDH7A1	NM_001182.5(ALDH7A1):c.273T>C:p.Thr91=	coding	Benign
5	126593045	C	T	C126593045T	ALDH7A1	NM_001182.5(ALDH7A1):c.246+306G>A	noncoding	Benign
5	126593354	T	C	T126593354C	ALDH7A1	NM_001182.5(ALDH7A1):c.243A>G:p.Arg81=	coding	Benign/Likely_benign
5	126593424	G	A	G126593424A	ALDH7A1	NM_001182.5(ALDH7A1):c.193-20C>T	noncoding	Benign
5	126593495	G	T	G126593495T	ALDH7A1	NM_001182.5(ALDH7A1):c.193-91C>A	noncoding	Benign
5	126593496	A	T	A126593496T	ALDH7A1	NM_001182.5(ALDH7A1):c.193-92T>A	noncoding	Benign
5	126595022	C	T	C126595022T	ALDH7A1	NM_001182.5(ALDH7A1):c.177G>A:p.Trp59Ter	coding	Pathogenic
5	126595160	T	C	T126595160C	ALDH7A1	NM_001182.5(ALDH7A1):c.39A>G:p.Ala13=	coding	Benign/Likely_benign
5	126595227	A	G	A126595227G	ALDH7A1	NM_001182.4(ALDH7A1):c.-29T>C	coding	Benign/Likely_benign
5	126595232	C	G	C126595232G	ALDH7A1	NM_001182.4(ALDH7A1):c.-34G>C	coding	Benign/Likely_benign
5	126595258	C	T	C126595258T	ALDH7A1	NM_001182.4(ALDH7A1):c.-60G>A	coding	Benign
5	126595315	C	A	C126595315A	ALDH7A1	NM_001182.4(ALDH7A1):c.-117G>T	noncoding	Benign
5	126595330	T	G	T126595330G	ALDH7A1	NM_001182.4(ALDH7A1):c.-132A>C	noncoding	Benign
5	126595349	G	A	G126595349A	ALDH7A1	NM_001182.4(ALDH7A1):c.-151C>T	noncoding	Benign
5	126595485	A	T	A126595485T	ALDH7A1	NC_000005.10:g.126595485A>T	noncoding	Benign
5	126595607	C	T	C126595607T	ALDH7A1	NC_000005.10:g.126595607C>T	noncoding	Benign
5	126595645	G	C	G126595645C	ALDH7A1	NC_000005.10:g.126595645G>C	noncoding	Benign
5	126595671	G	C	G126595671C	ALDH7A1	NC_000005.10:g.126595671G>C	noncoding	Benign
5	126595676	A	T	A126595676T	ALDH7A1	NC_000005.10:g.126595676A>T	noncoding	Benign
5	126595684	G	T	G126595684T	ALDH7A1	NC_000005.10:g.126595684G>T	noncoding	Benign
5	126776888	T	C	T126776888C	LMNB1	NM_005573.3(LMNB1):c.-621T>C	noncoding	Benign
5	126777195	C	T	C126777195T	LMNB1	NM_005573.4(LMNB1):c.-314C>T	noncoding	Benign
5	126777211	G	T	G126777211T	LMNB1	NM_005573.4(LMNB1):c.-298G>T	noncoding	Benign
5	126777568	G	A	G126777568A	LMNB1	NM_005573.4(LMNB1):c.60G>A:p.Thr20=	coding	Benign
5	126777605	A	G	A126777605G	LMNB1	NM_005573.4(LMNB1):c.97A>G:p.Lys33Glu	coding	Pathogenic
5	126777632	C	T	C126777632T	LMNB1	NM_005573.4(LMNB1):c.124C>T:p.Arg42Trp	coding	Pathogenic
5	126777649	C	T	C126777649T	LMNB1	NM_005573.4(LMNB1):c.141C>T:p.Ile47=	coding	Benign
5	126777673	G	A	G126777673A	LMNB1	NM_005573.4(LMNB1):c.165G>A:p.Thr55=	coding	Benign
5	126777787	C	T	C126777787T	LMNB1	NM_005573.4(LMNB1):c.279C>T:p.Leu93=	coding	Benign
5	126804830	T	C	T126804830C	LMNB1	NM_005573.4(LMNB1):c.414T>C:p.Tyr138=	coding	Benign
5	126804848	G	A	G126804848A	LMNB1	NM_005573.4(LMNB1):c.432G>A:p.Ser144=	coding	Benign
5	126804871	C	G	C126804871G	LMNB1	NM_005573.4(LMNB1):c.455C>G:p.Ala152Gly	coding	Pathogenic
5	126805706	T	C	T126805706C	LMNB1	NM_005573.4(LMNB1):c.642+10T>C	noncoding	Benign/Likely_benign
5	126810237	C	T	C126810237T	LMNB1	NM_005573.4(LMNB1):c.700C>T:p.Arg234Cys	coding	Benign
5	126811811	T	C	T126811811C	LMNB1	NM_005573.4(LMNB1):c.852T>C:p.Ser284=	coding	Benign
5	126811899	G	A	G126811899A	LMNB1	NM_005573.4(LMNB1):c.939+1G>A	coding	Pathogenic
5	126819005	C	T	C126819005T	LMNB1	NM_005573.4(LMNB1):c.1023C>T:p.Asp341=	coding	Benign
5	126820927	G	A	G126820927A	LMNB1	NM_005573.4(LMNB1):c.1178G>A:p.Ser393Asn	coding	Benign
5	126825977	G	T	G126825977T	LMNB1	NM_005573.4(LMNB1):c.1492-11G>T	noncoding	Benign
5	126825998	C	T	C126825998T	LMNB1	NM_005573.4(LMNB1):c.1502C>T:p.Ala501Val	coding	Benign
5	126826056	G	A	G126826056A	LMNB1	NM_005573.4(LMNB1):c.1560G>A:p.Ser520=	coding	Benign
5	126836279	T	C	T126836279C	LMNB1	NM_005573.4(LMNB1):c.*15T>C	noncoding	Benign
5	126836282	C	T	C126836282T	LMNB1	NM_005573.4(LMNB1):c.*18C>T	noncoding	Benign
5	126836307	T	C	T126836307C	LMNB1	NM_005573.4(LMNB1):c.*43T>C	noncoding	Benign
5	126836503	C	T	C126836503T	LMNB1	NM_005573.4(LMNB1):c.*239C>T	noncoding	Benign
5	126836767	A	T	A126836767T	LMNB1	NM_005573.4(LMNB1):c.*503A>T	noncoding	Benign
5	126836782	T	C	T126836782C	LMNB1	NM_005573.4(LMNB1):c.*518T>C	noncoding	Benign
5	126836955	A	G	A126836955G	LMNB1	NM_005573.4(LMNB1):c.*691A>G	noncoding	Benign
5	127290953	G	A	G127290953A	MEGF10	NM_001256545.2(MEGF10):c.-122G>A	noncoding	Benign
5	127299999	A	G	A127299999G	MEGF10	NM_001256545.2(MEGF10):c.-19+8943A>G	noncoding	Benign/Likely_benign
5	127331434	T	C	T127331434C	MEGF10	NM_001256545.2(MEGF10):c.116+10T>C	noncoding	Benign
5	127338921	A	G	A127338921G	MEGF10	NM_001256545.2(MEGF10):c.117-199A>G	noncoding	Benign
5	127339177	G	A	G127339177A	MEGF10	NM_001256545.2(MEGF10):c.174G>A:p.Thr58=	coding	Benign
5	127339214	C	T	C127339214T	MEGF10	NM_001256545.2(MEGF10):c.211C>T:p.Arg71Trp	coding	Pathogenic
5	127339238	C	G	C127339238G	MEGF10	NM_001256545.2(MEGF10):c.218+17C>G	noncoding	Benign/Likely_benign
5	127339376	G	A	G127339376A	MEGF10	NM_001256545.2(MEGF10):c.218+155G>A	noncoding	Benign
5	127340836	T	C	T127340836C	MEGF10	NM_001256545.2(MEGF10):c.319+206T>C	noncoding	Benign
5	127340862	A	G	A127340862G	MEGF10	NM_001256545.2(MEGF10):c.319+232A>G	noncoding	Benign
5	127396669	C	T	C127396669T	MEGF10	NM_001256545.2(MEGF10):c.550C>T:p.Gln184Ter	coding	Pathogenic
5	127396707	G	A	G127396707A	MEGF10	NM_001256545.2(MEGF10):c.588G>A:p.Gln196=	coding	Benign
5	127396735	G	A	G127396735A	MEGF10	NM_001256545.2(MEGF10):c.616G>A:p.Val206Ile	coding	Benign
5	127396744	G	T	G127396744T	MEGF10	NM_001256545.2(MEGF10):c.625G>T:p.Glu209Ter	coding	Pathogenic
5	127397080	T	G	T127397080G	MEGF10	NM_001256545.2(MEGF10):c.659+302T>G	noncoding	Benign
5	127398673	C	T	C127398673T	MEGF10	NM_001256545.2(MEGF10):c.660-3C>T	noncoding	Benign
5	127402349	A	C	A127402349C	MEGF10	NM_001256545.2(MEGF10):c.781-197A>C	noncoding	Benign
5	127410447	T	C	T127410447C	MEGF10	NM_001256545.2(MEGF10):c.976T>C:p.Cys326Arg	coding	Pathogenic
5	127410455	C	T	C127410455T	MEGF10	NM_001256545.2(MEGF10):c.984C>T:p.Asn328=	coding	Benign/Likely_benign
5	127410585	C	T	C127410585T	MEGF10	NM_001256545.2(MEGF10):c.1114C>T:p.Leu372=	coding	Benign
5	127410742	G	A	G127410742A	MEGF10	NM_001256545.2(MEGF10):c.1130+141G>A	noncoding	Benign
5	127420176	G	A	G127420176A	MEGF10	NM_032446.3(MEGF10):c.1559G>A:p.Trp520Ter	coding	Pathogenic
5	127420503	G	C	G127420503C	MEGF10	NM_001256545.2(MEGF10):c.1590+296G>C	noncoding	Benign
5	127433454	T	C	T127433454C	MEGF10	NM_001256545.2(MEGF10):c.1785T>C:p.Pro595=	coding	Benign
5	127434667	G	A	G127434667A	MEGF10	NM_001256545.2(MEGF10):c.1841-20G>A	noncoding	Benign
5	127435419	C	T	C127435419T	MEGF10	NM_001256545.2(MEGF10):c.2034C>T:p.Asn678=	coding	Benign/Likely_benign
5	127435461	C	T	C127435461T	MEGF10	NM_001256545.2(MEGF10):c.2076C>T:p.Pro692=	coding	Benign/Likely_benign
5	127438117	G	T	G127438117T	MEGF10	NM_001256545.2(MEGF10):c.2105-322G>T	noncoding	Benign
5	127438167	A	C	A127438167C	MEGF10	NM_001256545.2(MEGF10):c.2105-272A>C	noncoding	Benign
5	127438533	C	T	C127438533T	MEGF10	NM_001256545.2(MEGF10):c.2199C>T:p.Cys733=	coding	Benign/Likely_benign
5	127440615	T	C	T127440615C	MEGF10	NM_001256545.2(MEGF10):c.2234-124T>C	noncoding	Benign
5	127440806	C	A	C127440806A	MEGF10	NM_001256545.2(MEGF10):c.2301C>A:p.Cys767Ter	coding	Pathogenic
5	127440825	T	C	T127440825C	MEGF10	NM_001256545.2(MEGF10):c.2320T>C:p.Cys774Arg	coding	Pathogenic
5	127443158	C	T	C127443158T	MEGF10	NM_001256545.2(MEGF10):c.2491+32C>T	noncoding	Benign
5	127445495	C	T	C127445495T	MEGF10	NM_001256545.2(MEGF10):c.2530C>T:p.Arg844Ter	coding	Pathogenic
5	127445754	T	C	T127445754C	MEGF10	NM_001256545.2(MEGF10):c.2728+61T>C	noncoding	Benign
5	127455149	T	G	T127455149G	MEGF10	NM_001256545.2(MEGF10):c.3026-252T>G	noncoding	Benign
5	127455519	T	G	T127455519G	MEGF10	NM_032446.3(MEGF10):c.3144T>G:p.Tyr1048Ter	coding	Pathogenic
5	127455537	G	A	G127455537A	MEGF10	NM_001256545.2(MEGF10):c.3162G>A:p.Pro1054=	coding	Benign/Likely_benign
5	127455541	C	T	C127455541T	MEGF10	NM_001256545.2(MEGF10):c.3166C>T:p.Arg1056Ter	coding	Pathogenic
5	127455564	G	A	G127455564A	MEGF10	NM_001256545.2(MEGF10):c.3189G>A:p.Glu1063=	coding	Benign/Likely_benign
5	127455590	G	A	G127455590A	MEGF10	NM_001256545.2(MEGF10):c.3215G>A:p.Arg1072Lys	coding	Benign
5	127457249	C	G	C127457249G	MEGF10	NM_001256545.2(MEGF10):c.3354C>G:p.Asp1118Glu	coding	Benign
5	127457527	C	G	C127457527G	MEGF10	NM_001256545.2(MEGF10):c.*209C>G	noncoding	Benign
5	127457943	A	G	A127457943G	MEGF10	NM_001256545.2(MEGF10):c.*625A>G	noncoding	Benign
5	127458564	C	T	C127458564T	MEGF10	NM_001256545.2(MEGF10):c.*1246C>T	noncoding	Benign
5	127459467	G	A	G127459467A	MEGF10	NM_001256545.2(MEGF10):c.*2149G>A	noncoding	Benign
5	127459554	C	A	C127459554A	MEGF10	NM_001256545.2(MEGF10):c.*2236C>A	noncoding	Benign
5	127460893	T	G	T127460893G	MEGF10	NM_001256545.2(MEGF10):c.*3575T>G	noncoding	Benign
5	128114613	C	T	C128114613T	SLC12A2	NM_001046.3(SLC12A2):c.980C>T:p.Ala327Val	coding	Pathogenic
5	128131145	A	T	A128131145T	SLC12A2	NM_001046.3(SLC12A2):c.1127A>T:p.Asn376Ile	coding	Pathogenic
5	128149996	G	A	G128149996A	SLC12A2	NM_001046.3(SLC12A2):c.2006-1G>A	noncoding	Pathogenic
5	128167819	G	A	G128167819A	SLC12A2	NM_001046.3(SLC12A2):c.2675G>A:p.Trp892Ter	coding	Pathogenic
5	128177113	G	A	G128177113A	SLC12A2	NM_001046.3(SLC12A2):c.2938G>A:p.Glu980Lys	coding	Pathogenic
5	128177137	C	T	C128177137T	SLC12A2	NM_001046.3(SLC12A2):c.2962C>T:p.Pro988Ser	coding	Pathogenic
5	128257923	C	T	C128257923T	FBN2	NM_001999.4(FBN2):c.*1532G>A	noncoding	Benign
5	128258040	C	T	C128258040T	FBN2	NM_001999.4(FBN2):c.*1415G>A	noncoding	Benign
5	128258178	C	T	C128258178T	FBN2	NM_001999.4(FBN2):c.*1277G>A	noncoding	Benign
5	128258264	G	A	G128258264A	FBN2	NM_001999.4(FBN2):c.*1191C>T	noncoding	Benign
5	128258323	T	C	T128258323C	FBN2	NM_001999.4(FBN2):c.*1132A>G	noncoding	Benign
5	128258493	G	C	G128258493C	FBN2	NM_001999.4(FBN2):c.*962C>G	noncoding	Benign
5	128258636	T	C	T128258636C	FBN2	NM_001999.4(FBN2):c.*819A>G	noncoding	Benign
5	128258722	A	T	A128258722T	FBN2	NM_001999.4(FBN2):c.*733T>A	noncoding	Benign
5	128258820	T	C	T128258820C	FBN2	NM_001999.4(FBN2):c.*635A>G	noncoding	Benign
5	128258941	T	G	T128258941G	FBN2	NM_001999.4(FBN2):c.*514A>C	noncoding	Benign
5	128259181	G	A	G128259181A	FBN2	NM_001999.4(FBN2):c.*274C>T	noncoding	Benign
5	128259182	A	G	A128259182G	FBN2	NM_001999.4(FBN2):c.*273T>C	noncoding	Benign
5	128259336	G	A	G128259336A	FBN2	NM_001999.4(FBN2):c.*119C>T	noncoding	Benign
5	128259461	G	C	G128259461C	FBN2	NM_001999.4(FBN2):c.8733C>G:p.Leu2911=	coding	Benign
5	128259725	G	A	G128259725A	FBN2	NM_001999.4(FBN2):c.8469C>T:p.Pro2823=	coding	Benign/Likely_benign
5	128261729	T	A	T128261729A	FBN2	NM_001999.4(FBN2):c.8364+7A>T	noncoding	Benign/Likely_benign
5	128261749	G	A	G128261749A	FBN2	NM_001999.4(FBN2):c.8351C>T:p.Pro2784Leu	coding	Benign
5	128261753	C	G	C128261753G	FBN2	NM_001999.4(FBN2):c.8347G>C:p.Glu2783Gln	coding	Benign
5	128261796	G	A	G128261796A	FBN2	NM_001999.4(FBN2):c.8304C>T:p.Asn2768=	coding	Benign/Likely_benign
5	128261826	G	A	G128261826A	FBN2	NM_001999.4(FBN2):c.8274C>T:p.Ser2758=	coding	Benign
5	128263463	G	A	G128263463A	FBN2	NM_001999.4(FBN2):c.8154C>T:p.Leu2718=	coding	Benign
5	128263568	C	T	C128263568T	FBN2	NM_001999.4(FBN2):c.8049G>A:p.Gly2683=	coding	Benign/Likely_benign
5	128263571	C	A	C128263571A	FBN2	NM_001999.4(FBN2):c.8046G>T:p.Ser2682=	coding	Benign/Likely_benign
5	128263574	G	T	G128263574T	FBN2	NM_001999.4(FBN2):c.8043C>A:p.Pro2681=	coding	Benign
5	128263666	C	T	C128263666T	FBN2	NM_001999.4(FBN2):c.7961-10G>A	noncoding	Benign
5	128272081	G	A	G128272081A	FBN2	NM_001999.4(FBN2):c.7878C>T:p.His2626=	coding	Benign/Likely_benign
5	128272134	C	A	C128272134A	FBN2	NM_001999.4(FBN2):c.7841-16G>T	noncoding	Benign
5	128272135	G	A	G128272135A	FBN2	NM_001999.4(FBN2):c.7841-17C>T	noncoding	Benign
5	128272440	A	G	A128272440G	FBN2	NM_001999.4(FBN2):c.7841-322T>C	noncoding	Benign
5	128273552	T	C	T128273552C	FBN2	NM_001999.4(FBN2):c.7840+288A>G	noncoding	Benign
5	128273856	G	A	G128273856A	FBN2	NM_001999.4(FBN2):c.7824C>T:p.Thr2608=	coding	Benign
5	128273941	G	A	G128273941A	FBN2	NM_001999.4(FBN2):c.7739C>T:p.Ser2580Leu	coding	Benign
5	128274310	C	T	C128274310T	FBN2	NM_001999.4(FBN2):c.7711+257G>A	noncoding	Benign
5	128274628	G	C	G128274628C	FBN2	NM_001999.4(FBN2):c.7650C>G:p.Thr2550=	coding	Benign
5	128274696	A	G	A128274696G	FBN2	NM_001999.4(FBN2):c.7595-13T>C	noncoding	Benign
5	128275807	A	T	A128275807T	FBN2	NM_001999.4(FBN2):c.7594+231T>A	noncoding	Benign
5	128276039	T	C	T128276039C	FBN2	NM_001999.4(FBN2):c.7593A>G:p.Lys2531=	coding	Benign/Likely_benign
5	128277607	G	T	G128277607T	FBN2	NM_001999.4(FBN2):c.7471+273C>A	noncoding	Benign
5	128277874	C	T	C128277874T	FBN2	NM_001999.4(FBN2):c.7471+6G>A	noncoding	Benign/Likely_benign
5	128278099	C	G	C128278099G	FBN2	NM_001999.4(FBN2):c.7346-94G>C	noncoding	Benign
5	128278684	C	A	C128278684A	FBN2	NM_001999.4(FBN2):c.7296G>T:p.Gln2432His	coding	Benign
5	128278717	C	T	C128278717T	FBN2	NM_001999.4(FBN2):c.7263G>A:p.Gln2421=	coding	Benign/Likely_benign
5	128278780	A	G	A128278780G	FBN2	NM_001999.4(FBN2):c.7200T>C:p.Ser2400=	coding	Benign
5	128280322	A	G	A128280322G	FBN2	NM_001999.4(FBN2):c.7013-5T>C	noncoding	Benign
5	128280324	A	T	A128280324T	FBN2	NM_001999.4(FBN2):c.7013-7T>A	noncoding	Benign
5	128286711	C	T	C128286711T	FBN2	NM_001999.4(FBN2):c.7012+7G>A	noncoding	Benign/Likely_benign
5	128286782	G	T	G128286782T	FBN2	NM_001999.4(FBN2):c.6948C>A:p.Ile2316=	coding	Benign
5	128286799	T	C	T128286799C	FBN2	NM_001999.4(FBN2):c.6931A>G:p.Met2311Val	coding	Benign
5	128286956	G	A	G128286956A	FBN2	NM_001999.4(FBN2):c.6881-107C>T	noncoding	Benign
5	128287055	C	A	C128287055A	FBN2	NM_001999.4(FBN2):c.6881-206G>T	noncoding	Benign
5	128287291	C	T	C128287291T	FBN2	NM_001999.4(FBN2):c.6880+17G>A	noncoding	Benign
5	128287347	T	A	T128287347A	FBN2	NM_001999.4(FBN2):c.6841A>T:p.Ile2281Phe	coding	Benign/Likely_benign
5	128287348	C	A	C128287348A	FBN2	NM_001999.4(FBN2):c.6840G>T:p.Pro2280=	coding	Benign/Likely_benign
5	128287478	A	G	A128287478G	FBN2	NM_001999.4(FBN2):c.6758-48T>C	noncoding	Benign
5	128287738	T	C	T128287738C	FBN2	NM_001999.4(FBN2):c.6758-308A>G	noncoding	Benign
5	128288129	T	A	T128288129A	FBN2	NM_001999.4(FBN2):c.6757+309A>T	noncoding	Benign
5	128288529	C	T	C128288529T	FBN2	NM_001999.4(FBN2):c.6666G>A:p.Pro2222=	coding	Benign/Likely_benign
5	128288540	T	C	T128288540C	FBN2	NM_001999.4(FBN2):c.6655A>G:p.Ile2219Val	coding	Benign/Likely_benign
5	128289088	T	C	T128289088C	FBN2	NM_001999.4(FBN2):c.6637+39A>G	noncoding	Benign/Likely_benign
5	128289149	G	A	G128289149A	FBN2	NM_001999.4(FBN2):c.6615C>T:p.Asp2205=	coding	Benign
5	128289254	T	C	T128289254C	FBN2	NM_001999.4(FBN2):c.6512-2A>G	noncoding	Pathogenic
5	128289269	C	G	C128289269G	FBN2	NM_001999.4(FBN2):c.6512-17G>C	noncoding	Benign
5	128289867	T	C	T128289867C	FBN2	NM_001999.4(FBN2):c.6511+15A>G	noncoding	Benign
5	128289947	A	G	A128289947G	FBN2	NM_001999.4(FBN2):c.6446T>C:p.Val2149Ala	coding	Benign/Likely_benign
5	128291192	G	A	G128291192A	FBN2	NM_001999.4(FBN2):c.6293-308C>T	noncoding	Benign
5	128291226	T	A	T128291226A	FBN2	NM_001999.4(FBN2):c.6292+303A>T	noncoding	Benign
5	128291517	G	T	G128291517T	FBN2	NM_001999.4(FBN2):c.6292+12C>A	noncoding	Benign
5	128291536	T	C	T128291536C	FBN2	NM_001999.4(FBN2):c.6285A>G:p.Arg2095=	coding	Benign
5	128291658	C	A	C128291658A	FBN2	NM_001999.4(FBN2):c.6167-4G>T	noncoding	Benign
5	128300793	C	T	C128300793T	FBN2	NM_001999.4(FBN2):c.6166+24G>A	noncoding	Benign
5	128300845	C	A	C128300845A	FBN2	NM_001999.4(FBN2):c.6138G>T:p.Gly2046=	coding	Benign/Likely_benign
5	128300920	G	A	G128300920A	FBN2	NM_001999.4(FBN2):c.6063C>T:p.Val2021=	coding	Benign/Likely_benign
5	128301428	T	C	T128301428C	FBN2	NM_001999.4(FBN2):c.6000A>G:p.Leu2000=	coding	Benign
5	128301837	G	A	G128301837A	FBN2	NM_001999.4(FBN2):c.5918-327C>T	noncoding	Benign
5	128302772	A	C	A128302772C	FBN2	NM_001999.4(FBN2):c.5917+201T>G	noncoding	Benign
5	128302861	T	C	T128302861C	FBN2	NM_001999.4(FBN2):c.5917+112A>G	noncoding	Benign
5	128302964	A	C	A128302964C	FBN2	NM_001999.4(FBN2):c.5917+9T>G	noncoding	Benign/Likely_benign
5	128302968	C	T	C128302968T	FBN2	NM_001999.4(FBN2):c.5917+5G>A	noncoding	Pathogenic
5	128303067	A	G	A128303067G	FBN2	NM_001999.4(FBN2):c.5823T>C:p.His1941=	coding	Benign
5	128305091	G	A	G128305091A	FBN2	NM_001999.4(FBN2):c.5675-9C>T	noncoding	Benign
5	128305169	A	G	A128305169G	FBN2	NM_001999.4(FBN2):c.5675-87T>C	noncoding	Benign
5	128305504	T	C	T128305504C	FBN2	NM_001999.4(FBN2):c.5674+7A>G	noncoding	Benign/Likely_benign
5	128305515	A	G	A128305515G	FBN2	NM_001999.4(FBN2):c.5670T>C:p.Cys1890=	coding	Benign/Likely_benign
5	128305654	C	T	C128305654T	FBN2	NM_001999.4(FBN2):c.5549-18G>A	noncoding	Benign/Likely_benign
5	128305923	T	C	T128305923C	FBN2	NM_001999.4(FBN2):c.5448A>G:p.Pro1816=	coding	Benign/Likely_benign
5	128306224	C	A	C128306224A	FBN2	NM_001999.4(FBN2):c.5423-276G>T	noncoding	Benign
5	128306981	C	T	C128306981T	FBN2	NM_001999.4(FBN2):c.5422+154G>A	noncoding	Benign
5	128309228	G	A	G128309228A	FBN2	NM_001999.4(FBN2):c.5353+19C>T	noncoding	Benign/Likely_benign
5	128309231	C	T	C128309231T	FBN2	NM_001999.4(FBN2):c.5353+16G>A	noncoding	Benign
5	128309236	C	T	C128309236T	FBN2	NM_001999.4(FBN2):c.5353+11G>A	noncoding	Benign/Likely_benign
5	128309237	G	A	G128309237A	FBN2	NM_001999.4(FBN2):c.5353+10C>T	noncoding	Benign
5	128309595	T	A	T128309595A	FBN2	NM_001999.4(FBN2):c.5201-196A>T	noncoding	Benign
5	128309697	T	C	T128309697C	FBN2	NM_001999.4(FBN2):c.5200+286A>G	noncoding	Benign
5	128309835	T	C	T128309835C	FBN2	NM_001999.4(FBN2):c.5200+148A>G	noncoding	Benign
5	128309972	T	G	T128309972G	FBN2	NM_001999.4(FBN2):c.5200+11A>C	noncoding	Benign
5	128311002	T	A	T128311002A	FBN2	NM_001999.4(FBN2):c.5074+298A>T	noncoding	Benign
5	128311391	G	A	G128311391A	FBN2	NM_001999.4(FBN2):c.4983C>T:p.Cys1661=	coding	Benign/Likely_benign
5	128311931	G	A	G128311931A	FBN2	NM_001999.4(FBN2):c.4902C>T:p.Pro1634=	coding	Benign/Likely_benign
5	128312365	A	G	A128312365G	FBN2	NM_001999.4(FBN2):c.4879+269T>C	noncoding	Benign
5	128312496	G	A	G128312496A	FBN2	NM_001999.4(FBN2):c.4879+138C>T	noncoding	Benign
5	128312722	G	A	G128312722A	FBN2	NM_001999.4(FBN2):c.4791C>T:p.Ile1597=	coding	Benign/Likely_benign
5	128312808	A	G	A128312808G	FBN2	NM_001999.4(FBN2):c.4718-13T>C	noncoding	Benign
5	128317864	A	G	A128317864G	FBN2	NM_001999.4(FBN2):c.4717+285T>C	noncoding	Benign
5	128318219	G	A	G128318219A	FBN2	NM_001999.4(FBN2):c.4647C>T:p.Asn1549=	coding	Benign/Likely_benign
5	128318282	C	G	C128318282G	FBN2	NM_001999.4(FBN2):c.4595-11G>C	noncoding	Benign
5	128318922	G	A	G128318922A	FBN2	NM_001999.4(FBN2):c.4551C>T:p.Cys1517=	coding	Benign
5	128318958	T	C	T128318958C	FBN2	NM_001999.4(FBN2):c.4515A>G:p.Thr1505=	coding	Benign/Likely_benign
5	128319013	A	T	A128319013T	FBN2	NM_001999.4(FBN2):c.4472-12T>A	noncoding	Benign
5	128328823	T	A	T128328823A	FBN2	NM_001999.4(FBN2):c.4346-2A>T	noncoding	Pathogenic
5	128328823	T	C	T128328823C	FBN2	NM_001999.4(FBN2):c.4346-2A>G	noncoding	Pathogenic
5	128330244	G	A	G128330244A	FBN2	NM_001999.4(FBN2):c.4345+329C>T	noncoding	Benign
5	128330390	T	C	T128330390C	FBN2	NM_001999.4(FBN2):c.4345+183A>G	noncoding	Benign
5	128330606	C	T	C128330606T	FBN2	NM_001999.4(FBN2):c.4312G>A:p.Glu1438Lys	coding	Benign/Likely_benign
5	128330612	A	G	A128330612G	FBN2	NM_001999.4(FBN2):c.4306T>C:p.Cys1436Arg	coding	Pathogenic
5	128330873	T	C	T128330873C	FBN2	NM_001999.4(FBN2):c.4223-178A>G	noncoding	Benign
5	128332900	T	C	T128332900C	FBN2	NM_001999.4(FBN2):c.4222+12A>G	noncoding	Benign
5	128332907	C	T	C128332907T	FBN2	NM_001999.4(FBN2):c.4222+5G>A	noncoding	Pathogenic
5	128332928	G	A	G128332928A	FBN2	NM_001999.4(FBN2):c.4206C>T:p.Asn1402=	coding	Benign/Likely_benign
5	128333250	G	T	G128333250T	FBN2	NM_001999.4(FBN2):c.4100-216C>A	noncoding	Benign
5	128333299	C	T	C128333299T	FBN2	NM_001999.4(FBN2):c.4100-265G>A	noncoding	Benign
5	128334720	T	G	T128334720G	FBN2	NM_001999.4(FBN2):c.4098A>C:p.Thr1366=	coding	Benign
5	128334832	C	T	C128334832T	FBN2	NM_001999.4(FBN2):c.3986G>A:p.Cys1329Tyr	coding	Pathogenic
5	128334863	A	G	A128334863G	FBN2	NM_001999.4(FBN2):c.3974-19T>C	noncoding	Benign
5	128334911	C	T	C128334911T	FBN2	NM_001999.4(FBN2):c.3974-67G>A	noncoding	Benign
5	128335305	C	A	C128335305A	FBN2	NM_001999.4(FBN2):c.3848-10G>T	noncoding	Benign
5	128335305	C	T	C128335305T	FBN2	NM_001999.4(FBN2):c.3848-10G>A	noncoding	Benign/Likely_benign
5	128335482	G	A	G128335482A	FBN2	NM_001999.4(FBN2):c.3820C>T:p.Leu1274=	coding	Benign
5	128335525	A	T	A128335525T	FBN2	NM_001999.4(FBN2):c.3777T>A:p.Asn1259Lys	coding	Pathogenic
5	128335535	T	C	T128335535C	FBN2	NM_001999.4(FBN2):c.3767A>G:p.Gln1256Arg	coding	Benign/Likely_benign
5	128335540	G	A	G128335540A	FBN2	NM_001999.4(FBN2):c.3762C>T:p.Asp1254=	coding	Benign/Likely_benign
5	128335543	A	C	A128335543C	FBN2	NM_001999.4(FBN2):c.3759T>G:p.Cys1253Trp	coding	Pathogenic
5	128335544	C	T	C128335544T	FBN2	NM_001999.4(FBN2):c.3758G>A:p.Cys1253Tyr	coding	Pathogenic
5	128335592	T	C	T128335592C	FBN2	NM_001999.4(FBN2):c.3725-15A>G	noncoding	Pathogenic
5	128335986	A	G	A128335986G	FBN2	NM_001999.4(FBN2):c.3724+2T>C	noncoding	Pathogenic
5	128336057	T	C	T128336057C	FBN2	NM_001999.4(FBN2):c.3655A>G:p.Met1219Val	coding	Benign/Likely_benign
5	128336232	A	G	A128336232G	FBN2	NM_001999.4(FBN2):c.3599-119T>C	noncoding	Benign
5	128338000	C	T	C128338000T	FBN2	NM_001999.4(FBN2):c.3595G>A:p.Val1199Met	coding	Benign
5	128338002	C	T	C128338002T	FBN2	NM_001999.4(FBN2):c.3593G>A:p.Cys1198Tyr	coding	Pathogenic
5	128338115	G	A	G128338115A	FBN2	NM_001999.4(FBN2):c.3480C>T:p.Asp1160=	coding	Benign/Likely_benign
5	128338440	G	A	G128338440A	FBN2	NM_001999.4(FBN2):c.3473-318C>T	noncoding	Benign
5	128338938	C	A	C128338938A	FBN2	NM_001999.4(FBN2):c.3467G>T:p.Cys1156Phe	coding	Pathogenic/Likely_pathogenic
5	128338980	C	A	C128338980A	FBN2	NM_001999.4(FBN2):c.3425G>T:p.Cys1142Phe	coding	Pathogenic
5	128338991	A	G	A128338991G	FBN2	NM_001999.4(FBN2):c.3414T>C:p.Phe1138=	coding	Benign/Likely_benign
5	128339000	C	T	C128339000T	FBN2	NM_001999.4(FBN2):c.3405G>A:p.Pro1135=	coding	Benign/Likely_benign
5	128339325	C	T	C128339325T	FBN2	NM_001999.4(FBN2):c.3344-264G>A	noncoding	Benign
5	128344350	A	T	A128344350T	FBN2	NM_001999.4(FBN2):c.3343+35T>A	noncoding	Benign
5	128344385	C	G	C128344385G	FBN2	NM_001999.4(FBN2):c.3343G>C:p.Asp1115His	coding	Pathogenic
5	128344455	A	G	A128344455G	FBN2	NM_001999.4(FBN2):c.3273T>C:p.Asn1091=	coding	Benign
5	128345126	C	T	C128345126T	FBN2	NM_001999.4(FBN2):c.3217+231G>A	noncoding	Benign
5	128345344	C	T	C128345344T	FBN2	NM_001999.4(FBN2):c.3217+13G>A	noncoding	Benign/Likely_benign
5	128345408	C	A	C128345408A	FBN2	NM_001999.4(FBN2):c.3166G>T:p.Ala1056Ser	coding	Benign
5	128345430	G	A	G128345430A	FBN2	NM_001999.4(FBN2):c.3144C>T:p.Tyr1048=	coding	Benign/Likely_benign
5	128345559	C	T	C128345559T	FBN2	NM_001999.4(FBN2):c.3015G>A:p.Leu1005=	coding	Benign
5	128345882	G	A	G128345882A	FBN2	NM_001999.4(FBN2):c.2990-298C>T	noncoding	Benign
5	128349396	G	A	G128349396A	FBN2	NM_001999.4(FBN2):c.2940C>T:p.Cys980=	coding	Benign/Likely_benign
5	128349443	C	T	C128349443T	FBN2	NM_001999.4(FBN2):c.2893G>A:p.Val965Ile	coding	Benign
5	128349932	C	A	C128349932A	FBN2	NM_001999.4(FBN2):c.2863+23G>T	noncoding	Benign
5	128349962	C	A	C128349962A	FBN2	NM_001999.4(FBN2):c.2856G>T:p.Thr952=	coding	Benign/Likely_benign
5	128350042	G	T	G128350042T	FBN2	NM_001999.4(FBN2):c.2813-37C>A	noncoding	Benign
5	128350686	T	C	T128350686C	FBN2	NM_001999.4(FBN2):c.2812+182A>G	noncoding	Benign
5	128350902	G	A	G128350902A	FBN2	NM_001999.4(FBN2):c.2778C>T:p.Ala926=	coding	Benign
5	128357129	T	C	T128357129C	FBN2	NM_001999.4(FBN2):c.2674+147A>G	noncoding	Benign
5	128357402	T	C	T128357402C	FBN2	NM_001999.4(FBN2):c.2555-7A>G	noncoding	Benign/Likely_benign
5	128357579	A	C	A128357579C	FBN2	NM_001999.4(FBN2):c.2555-184T>G	noncoding	Benign/Likely_benign
5	128357682	T	A	T128357682A	FBN2	NM_001999.4(FBN2):c.2555-287A>T	noncoding	Benign
5	128361896	A	G	A128361896G	FBN2	NM_001999.4(FBN2):c.2429-48T>C	noncoding	Benign
5	128364594	A	T	A128364594T	FBN2	NM_001999.4(FBN2):c.2428+6T>A	noncoding	Benign
5	128365001	C	A	C128365001A	FBN2	NM_001999.4(FBN2):c.2303-276G>T	noncoding	Benign
5	128366117	A	C	A128366117C	FBN2	NM_001999.4(FBN2):c.2302+260T>G	noncoding	Benign
5	128369558	T	C	T128369558C	FBN2	NM_001999.4(FBN2):c.2096-224A>G	noncoding	Benign
5	128376801	A	G	A128376801G	FBN2	NM_001999.4(FBN2):c.1902T>C:p.Asn634=	coding	Benign
5	128377789	G	A	G128377789A	FBN2	NM_001999.4(FBN2):c.1812C>T:p.Ala604=	coding	Benign
5	128377852	C	T	C128377852T	FBN2	NM_001999.4(FBN2):c.1749G>A:p.Gly583=	coding	Benign/Likely_benign
5	128392029	C	G	C128392029G	FBN2	NM_001999.4(FBN2):c.1592G>C:p.Gly531Ala	coding	Benign/Likely_benign
5	128392160	G	A	G128392160A	FBN2	NM_001999.4(FBN2):c.1466-5C>T	noncoding	Benign
5	128393081	T	C	T128393081C	FBN2	NM_001999.4(FBN2):c.1465+54A>G	noncoding	Benign
5	128393315	T	C	T128393315C	FBN2	NM_001999.4(FBN2):c.1285A>G:p.Ser429Gly	coding	Benign
5	128395182	C	T	C128395182T	FBN2	NM_001999.4(FBN2):c.1171G>A:p.Glu391Lys	coding	Pathogenic
5	128408712	C	T	C128408712T	FBN2	NM_001999.4(FBN2):c.1040G>A:p.Arg347His	coding	Benign/Likely_benign
5	128408776	G	A	G128408776A	FBN2	NM_001999.4(FBN2):c.976C>T:p.Pro326Ser	coding	Benign/Likely_benign
5	128408807	A	C	A128408807C	FBN2	NM_001999.4(FBN2):c.953-8T>G	noncoding	Benign/Likely_benign
5	128409132	C	T	C128409132T	FBN2	NM_001999.4(FBN2):c.953-333G>A	noncoding	Benign
5	128442304	G	A	G128442304A	FBN2	NM_001999.4(FBN2):c.952+4177C>T	noncoding	Benign
5	128446604	C	T	C128446604T	FBN2	NM_001999.4(FBN2):c.829G>A:p.Val277Ile	coding	Benign/Likely_benign
5	128446608	T	C	T128446608C	FBN2	NM_001999.4(FBN2):c.827-2A>G	noncoding	Pathogenic
5	128464812	C	T	C128464812T	FBN2	NM_001999.4(FBN2):c.738G>A:p.Ala246=	coding	Benign/Likely_benign
5	128464822	A	G	A128464822G	FBN2	NM_001999.4(FBN2):c.728T>C:p.Ile243Thr	coding	Benign/Likely_benign
5	128464930	T	C	T128464930C	FBN2	NM_001999.4(FBN2):c.629-9A>G	noncoding	Benign
5	128519065	C	T	C128519065T	FBN2	NM_001999.4(FBN2):c.628+208G>A	noncoding	Benign
5	128519155	T	A	T128519155A	FBN2	NM_001999.4(FBN2):c.628+118A>T	noncoding	Benign
5	128519369	C	G	C128519369G	FBN2	NM_001999.4(FBN2):c.533-1G>C	coding	Pathogenic
5	128527879	A	T	A128527879T	FBN2	NM_001999.4(FBN2):c.525T>A:p.Cys175Ter	coding	Pathogenic
5	128528129	T	C	T128528129C	FBN2	NM_001999.4(FBN2):c.437-162A>G	noncoding	Benign
5	128530579	C	T	C128530579T	FBN2	NM_001999.4(FBN2):c.436+16G>A	noncoding	Benign/Likely_benign
5	128530782	G	T	G128530782T	FBN2	NM_001999.4(FBN2):c.338-89C>A	noncoding	Benign
5	128536442	A	G	A128536442G	FBN2	NM_001999.4(FBN2):c.297T>C:p.Pro99=	coding	Benign
5	128536499	C	T	C128536499T	FBN2	NM_001999.4(FBN2):c.255-15G>A	noncoding	Benign
5	128536502	G	T	G128536502T	FBN2	NM_001999.4(FBN2):c.255-18C>A	noncoding	Benign/Likely_benign
5	128537047	G	C	G128537047C	FBN2	NM_001999.4(FBN2):c.254+303C>G	noncoding	Benign
5	128537076	A	G	A128537076G	FBN2	NM_001999.4(FBN2):c.254+274T>C	noncoding	Benign
5	128537401	G	A	G128537401A	FBN2	NM_001999.4(FBN2):c.203C>T:p.Ala68Val	coding	Benign
5	128537421	G	C	G128537421C	FBN2	NM_001999.4(FBN2):c.183C>G:p.Pro61=	coding	Benign
5	128537472	C	G	C128537472G	FBN2	NM_001999.4(FBN2):c.132G>C:p.Pro44=	coding	Benign/Likely_benign
5	128537493	C	T	C128537493T	FBN2	NM_001999.4(FBN2):c.111G>A:p.Pro37=	coding	Benign
5	128537523	G	A	G128537523A	FBN2	NM_001999.4(FBN2):c.81C>T:p.Ala27=	coding	Benign/Likely_benign
5	128537627	C	G	C128537627G	FBN2	NM_001999.4(FBN2):c.-24G>C	noncoding	Benign
5	128537725	C	A	C128537725A	FBN2	NM_001999.4(FBN2):c.-122G>T	noncoding	Benign
5	128537750	G	A	G128537750A	FBN2	NM_001999.4(FBN2):c.-147C>T	noncoding	Benign
5	128537865	G	A	G128537865A	FBN2	NM_001999.4(FBN2):c.-262C>T	noncoding	Benign/Likely_benign
5	128537872	T	C	T128537872C	FBN2	NM_001999.4(FBN2):c.-269A>G	noncoding	Benign
5	128537912	T	C	T128537912C	FBN2	NM_001999.4(FBN2):c.-309A>G	noncoding	Benign
5	128538038	G	A	G128538038A	FBN2	NM_001999.4(FBN2):c.-435C>T	noncoding	Benign
5	128538114	C	T	C128538114T	FBN2	NM_001999.4(FBN2):c.-511G>A	noncoding	Benign
5	128538228	C	G	C128538228G	FBN2	NM_001999.4(FBN2):c.-625G>C	noncoding	Benign
5	128538274	A	G	A128538274G	FBN2	NC_000005.10:g.128538274A>G	noncoding	Benign
5	128538300	G	C	G128538300C	FBN2	NC_000005.10:g.128538300G>C	noncoding	Benign
5	129461565	G	C	G129461565C	ADAMTS19	NM_133638.5(ADAMTS19):c.555G>C:p.Leu185=	coding	Benign
5	129461632	G	A	G129461632A	ADAMTS19	NM_133638.5(ADAMTS19):c.622G>A:p.Gly208Ser	coding	Benign
5	129622233	C	T	C129622233T	ADAMTS19	NM_133638.5(ADAMTS19):c.1655C>T:p.Pro552Leu	coding	Benign
5	131159473	G	A	G131159473A	HINT1	NM_005340.7(HINT1):c.355C>T:p.Arg119Trp	coding	Pathogenic
5	131159494	G	T	G131159494T	HINT1	NM_005340.7(HINT1):c.334C>A:p.His112Asn	coding	Pathogenic
5	131159498	G	A	G131159498A	HINT1	NM_005340.7(HINT1):c.330C>T:p.His110=	coding	Benign/Likely_benign
5	131159512	G	A	G131159512A	HINT1	NM_005340.7(HINT1):c.316C>T:p.Gln106Ter	coding	Pathogenic
5	131159550	C	T	C131159550T	HINT1	NM_005340.7(HINT1):c.278G>A:p.Gly93Asp	coding	Pathogenic
5	131159562	C	A	C131159562A	HINT1	NM_005340.7(HINT1):c.266G>T:p.Gly89Val	coding	Pathogenic
5	131159578	A	G	A131159578G	HINT1	NM_005340.7(HINT1):c.250T>C:p.Cys84Arg	coding	Pathogenic
5	131159722	A	C	A131159722C	HINT1	NM_005340.7(HINT1):c.217-111T>G	noncoding	Benign
5	131162535	A	G	A131162535G	HINT1	NM_005340.7(HINT1):c.216+37T>C	noncoding	Benign
5	131162590	T	C	T131162590C	HINT1	NM_005340.7(HINT1):c.198A>G:p.Ala66=	coding	Benign
5	131162604	G	A	G131162604A	HINT1	NM_005340.7(HINT1):c.184C>T:p.Gln62Ter	coding	Pathogenic
5	131162636	T	C	T131162636C	HINT1	NM_005340.7(HINT1):c.152A>G:p.His51Arg	coding	Pathogenic
5	131162671	A	G	A131162671G	HINT1	NM_005340.7(HINT1):c.117T>C:p.Leu39=	coding	Benign
5	131164779	A	G	A131164779G	HINT1	NM_005340.7(HINT1):c.111+316T>C	noncoding	Benign
5	131164888	G	A	G131164888A	HINT1	NM_005340.7(HINT1):c.111+207C>T	noncoding	Benign
5	131165058	A	C	A131165058C	HINT1	NM_005340.7(HINT1):c.111+37T>G	noncoding	Benign
5	131165096	C	G	C131165096G	HINT1	NM_005340.7(HINT1):c.110G>C:p.Arg37Pro	coding	Pathogenic
5	131165149	A	G	A131165149G	HINT1	NM_005340.7(HINT1):c.57T>C:p.Phe19=	coding	Benign
5	131165381	T	C	T131165381C	HINT1	NC_000005.10:g.131165381T>C	noncoding	Benign
5	131171048	C	T	C131171048T	LYRM7	NM_181705.4(LYRM7):c.18+10C>T	noncoding	Benign
5	131180118	G	A	G131180118A	LYRM7	NM_181705.4(LYRM7):c.42G>A:p.Leu14=	coding	Benign
5	131180149	G	A	G131180149A	LYRM7	NM_181705.4(LYRM7):c.73G>A:p.Asp25Asn	coding	Pathogenic
5	131180313	T	G	T131180313G	LYRM7	NM_181705.4(LYRM7):c.91+146T>G	noncoding	Benign
5	131182251	A	C	A131182251C	LYRM7	NM_181705.4(LYRM7):c.114A>C:p.Glu38Asp	coding	Benign
5	131187079	C	T	C131187079T	LYRM7	NM_181705.4(LYRM7):c.214C>T:p.Gln72Ter	coding	Pathogenic
5	131429006	A	T	A131429006T	RAPGEF6	NM_016340.6(RAPGEF6):c.4676T>A:p.Val1559Glu	coding	Benign
5	131430849	C	A	C131430849A	RAPGEF6	NM_016340.6(RAPGEF6):c.4465+10G>T	noncoding	Benign
5	131430929	G	T	G131430929T	RAPGEF6	NM_016340.6(RAPGEF6):c.4395C>A:p.Gly1465=	coding	Benign
5	131442434	G	A	G131442434A	RAPGEF6	NM_016340.6(RAPGEF6):c.3525C>T:p.Pro1175=	coding	Benign
5	131455931	A	G	A131455931G	RAPGEF6	NM_016340.6(RAPGEF6):c.2946T>C:p.Asp982=	coding	Benign
5	131945413	G	C	G131945413C	MEIKIN	NM_001303622.2(MEIKIN):c.93C>G:p.Ala31=	coding	Benign
5	131974979	G	C	G131974979C	ACSL6	NM_001009185.3(ACSL6):c.991-9C>G	noncoding	Benign
5	131994067	C	T	C131994067T	ACSL6	NM_001009185.3(ACSL6):c.234G>A:p.Pro78=	coding	Benign
5	132060713	C	T	C132060713T	IL3	NM_000588.4(IL3):c.7C>T:p.Arg3Cys	coding	Benign
5	132060993	C	T	C132060993T	IL3	NM_000588.4(IL3):c.189C>T:p.Asp63=	coding	Benign
5	132062410	A	T	A132062410T	IL3	NM_000588.4(IL3):c.294+9A>T	noncoding	Benign
5	132073889	G	A	G132073889A	CSF2	NM_000758.4(CSF2):c.66G>A:p.Ser22=	coding	Benign
5	132073904	G	A	G132073904A	CSF2	NM_000758.4(CSF2):c.81G>A:p.Thr27=	coding	Benign
5	132074884	C	T	C132074884T	CSF2	NM_000758.4(CSF2):c.276C>T:p.Gly92=	coding	Benign
5	132209170	C	T	C132209170T	P4HA2	NM_004199.3(P4HA2):c.871G>A:p.Glu291Lys	coding	Pathogenic
5	132210339	G	C	G132210339C	P4HA2	NM_001017974.2(P4HA2):c.654C>G:p.Phe218Leu	coding	Benign
5	132213966	T	C	T132213966C	P4HA2	NM_004199.3(P4HA2):c.419A>G:p.Gln140Arg	coding	Pathogenic
5	132217302	C	A	C132217302A	P4HA2	NM_004199.3(P4HA2):c.226G>T:p.Ala76Ser	coding	Benign
5	132218541	G	A	G132218541A	P4HA2	NM_001017974.2(P4HA2):c.82+4C>T	noncoding	Benign
5	132312232	C	T	C132312232T	SLC22A4	NM_003059.3(SLC22A4):c.465C>T:p.Leu155=	coding	Benign
5	132335906	G	A	G132335906A	SLC22A4	NM_003059.3(SLC22A4):c.1350G>A:p.Glu450=	coding	Benign
5	132335969	C	G	C132335969G	SLC22A4	NM_003059.3(SLC22A4):c.1413C>G:p.Gly471=	coding	Benign
5	132340620	T	C	T132340620C	SLC22A4	NM_003059.3(SLC22A4):c.1500T>C:p.Ile500=	coding	Benign
5	132340627	C	T	C132340627T	SLC22A4	NM_003059.3(SLC22A4):c.1507C>T:p.Leu503Phe	coding	Benign
5	132369739	C	G	C132369739G	SLC22A5	NM_003060.4(SLC22A5):c.-234C>G	noncoding	Benign
5	132369766	C	G	C132369766G	SLC22A5	NM_003060.4(SLC22A5):c.-207C>G	noncoding	Benign
5	132369834	G	T	G132369834T	SLC22A5	NM_003060.4(SLC22A5):c.-139G>T	noncoding	Benign
5	132369866	G	T	G132369866T	SLC22A5	NM_003060.4(SLC22A5):c.-107G>T	noncoding	Benign
5	132369895	C	T	C132369895T	SLC22A5	NM_003060.4(SLC22A5):c.-78C>T	noncoding	Benign
5	132369896	G	A	G132369896A	SLC22A5	NM_003060.4(SLC22A5):c.-77G>A	noncoding	Benign
5	132369984	C	G	C132369984G	SLC22A5	NM_003060.4(SLC22A5):c.12C>G:p.Tyr4Ter	coding	Pathogenic
5	132370014	G	A	G132370014A	SLC22A5	NM_003060.4(SLC22A5):c.42G>A:p.Trp14Ter	coding	Pathogenic
5	132370015	G	T	G132370015T	SLC22A5	NM_003060.4(SLC22A5):c.43G>T:p.Gly15Trp	coding	Pathogenic/Likely_pathogenic
5	132370023	C	G	C132370023G	SLC22A5	NM_003060.4(SLC22A5):c.51C>G:p.Phe17Leu	coding	Pathogenic
5	132370031	T	A	T132370031A	SLC22A5	NM_003060.4(SLC22A5):c.59T>A:p.Leu20His	coding	Benign
5	132370055	G	T	G132370055T	SLC22A5	NM_003060.4(SLC22A5):c.83G>T:p.Ser28Ile	coding	Pathogenic
5	132370067	A	G	A132370067G	SLC22A5	NM_003060.4(SLC22A5):c.95A>G:p.Asn32Ser	coding	Pathogenic
5	132370108	C	T	C132370108T	SLC22A5	NM_003060.4(SLC22A5):c.136C>T:p.Pro46Ser	coding	Pathogenic/Likely_pathogenic
5	132370220	G	T	G132370220T	SLC22A5	NM_003060.4(SLC22A5):c.248G>T:p.Arg83Leu	coding	Pathogenic/Likely_pathogenic
5	132370257	T	C	T132370257C	SLC22A5	NM_003060.4(SLC22A5):c.285T>C:p.Leu95=	coding	Benign
5	132370310	G	A	G132370310A	SLC22A5	NM_003060.4(SLC22A5):c.338G>A:p.Cys113Tyr	coding	Pathogenic/Likely_pathogenic
5	132370333	C	T	C132370333T	SLC22A5	NM_003060.4(SLC22A5):c.361C>T:p.Gln121Ter	coding	Pathogenic
5	132370366	G	A	G132370366A	SLC22A5	NM_003060.4(SLC22A5):c.393+1G>A	coding	Pathogenic/Likely_pathogenic
5	132370382	G	A	G132370382A	SLC22A5	NM_003060.4(SLC22A5):c.393+17G>A	noncoding	Benign
5	132370483	C	A	C132370483A	SLC22A5	NM_003060.4(SLC22A5):c.393+118C>A	noncoding	Benign
5	132378082	C	T	C132378082T	SLC22A5	NM_003060.4(SLC22A5):c.394-296C>T	noncoding	Benign
5	132378376	A	C	A132378376C	SLC22A5	NM_003060.4(SLC22A5):c.394-2A>C	noncoding	Pathogenic
5	132378379	G	A	G132378379A	SLC22A5	NM_003060.4(SLC22A5):c.395G>A:p.Trp132Ter	coding	Pathogenic
5	132378380	G	A	G132378380A	SLC22A5	NM_003060.4(SLC22A5):c.396G>A:p.Trp132Ter	coding	Pathogenic/Likely_pathogenic
5	132378408	G	T	G132378408T	SLC22A5	NM_003060.4(SLC22A5):c.424G>T:p.Ala142Ser	coding	Pathogenic/Likely_pathogenic
5	132378412	C	T	C132378412T	SLC22A5	NM_003060.4(SLC22A5):c.428C>T:p.Pro143Leu	coding	Pathogenic/Likely_pathogenic
5	132378414	C	T	C132378414T	SLC22A5	NM_003060.4(SLC22A5):c.430C>T:p.Leu144Phe	coding	Benign/Likely_benign
5	132378717	C	T	C132378717T	SLC22A5	NM_003060.4(SLC22A5):c.497+236C>T	noncoding	Benign
5	132384004	C	G	C132384004G	SLC22A5	NM_003060.4(SLC22A5):c.498-143C>G	noncoding	Benign
5	132384154	C	T	C132384154T	SLC22A5	NM_003060.4(SLC22A5):c.505C>T:p.Arg169Trp	coding	Pathogenic/Likely_pathogenic
5	132384155	G	A	G132384155A	SLC22A5	NM_003060.4(SLC22A5):c.506G>A:p.Arg169Gln	coding	Pathogenic
5	132384155	G	C	G132384155C	SLC22A5	NM_003060.4(SLC22A5):c.506G>C:p.Arg169Pro	coding	Pathogenic
5	132384281	A	G	A132384281G	SLC22A5	NM_003060.4(SLC22A5):c.632A>G:p.Tyr211Cys	coding	Pathogenic/Likely_pathogenic
5	132384302	G	A	G132384302A	SLC22A5	NM_003060.4(SLC22A5):c.652+1G>A	coding	Pathogenic
5	132384378	A	G	A132384378G	SLC22A5	NM_003060.4(SLC22A5):c.652+77A>G	noncoding	Benign
5	132384571	A	G	A132384571G	SLC22A5	NM_003060.4(SLC22A5):c.652+270A>G	noncoding	Benign
5	132384573	G	A	G132384573A	SLC22A5	NM_003060.4(SLC22A5):c.652+272G>A	noncoding	Benign
5	132385355	G	A	G132385355A	SLC22A5	NM_003060.4(SLC22A5):c.680G>A:p.Arg227His	coding	Pathogenic/Likely_pathogenic
5	132385363	T	C	T132385363C	SLC22A5	NM_003060.4(SLC22A5):c.688T>C:p.Phe230Leu	coding	Pathogenic
5	132385370	C	T	C132385370T	SLC22A5	NM_003060.4(SLC22A5):c.695C>T:p.Thr232Met	coding	Pathogenic/Likely_pathogenic
5	132385435	C	T	C132385435T	SLC22A5	NM_003060.4(SLC22A5):c.760C>T:p.Arg254Ter	coding	Pathogenic
5	132385472	C	T	C132385472T	SLC22A5	NM_003060.4(SLC22A5):c.797C>T:p.Pro266Leu	coding	Pathogenic
5	132385482	A	G	A132385482G	SLC22A5	NM_003060.4(SLC22A5):c.807A>G:p.Leu269=	coding	Benign
5	132385493	T	C	T132385493C	SLC22A5	NM_003060.4(SLC22A5):c.818T>C:p.Leu273Pro	coding	Pathogenic
5	132385512	T	C	T132385512C	SLC22A5	NM_003060.4(SLC22A5):c.824+13T>C	noncoding	Benign
5	132385587	C	G	C132385587G	SLC22A5	NM_003060.4(SLC22A5):c.824+88C>G	noncoding	Benign
5	132386973	G	A	G132386973A	SLC22A5	NM_003060.4(SLC22A5):c.825-52G>A	noncoding	Pathogenic
5	132387025	G	A	G132387025A	SLC22A5	NM_003060.4(SLC22A5):c.825G>A:p.Trp275Ter	coding	Pathogenic
5	132387044	C	T	C132387044T	SLC22A5	NM_003060.4(SLC22A5):c.844C>T:p.Arg282Ter	coding	Pathogenic
5	132387045	G	A	G132387045A	SLC22A5	NM_003060.4(SLC22A5):c.845G>A:p.Arg282Gln	coding	Pathogenic
5	132387065	C	T	C132387065T	SLC22A5	NM_003060.4(SLC22A5):c.865C>T:p.Arg289Ter	coding	Pathogenic
5	132387373	C	T	C132387373T	SLC22A5	NM_003060.4(SLC22A5):c.951+222C>T	noncoding	Benign
5	132388975	C	T	C132388975T	SLC22A5	NM_003060.4(SLC22A5):c.1006C>T:p.Arg336Ter	coding	Pathogenic
5	132389020	T	C	T132389020C	SLC22A5	NM_003060.4(SLC22A5):c.1051T>C:p.Trp351Arg	coding	Pathogenic
5	132389258	T	C	T132389258C	SLC22A5	NM_003060.4(SLC22A5):c.1052+237T>C	noncoding	Benign
5	132390688	A	C	A132390688C	SLC22A5	NM_003060.4(SLC22A5):c.1053-2A>C	noncoding	Pathogenic/Likely_pathogenic
5	132390762	C	T	C132390762T	SLC22A5	NM_003060.4(SLC22A5):c.1125C>T:p.Asn375=	coding	Benign/Likely_benign
5	132390809	G	A	G132390809A	SLC22A5	NM_003060.4(SLC22A5):c.1172G>A:p.Trp391Ter	coding	Pathogenic
5	132390825	T	G	T132390825G	SLC22A5	NM_003060.4(SLC22A5):c.1188T>G:p.Tyr396Ter	coding	Pathogenic
5	132390830	C	T	C132390830T	SLC22A5	NM_003060.4(SLC22A5):c.1193C>T:p.Pro398Leu	coding	Pathogenic/Likely_pathogenic
5	132390832	C	T	C132390832T	SLC22A5	NM_003060.4(SLC22A5):c.1195C>T:p.Arg399Trp	coding	Pathogenic/Likely_pathogenic
5	132390833	G	A	G132390833A	SLC22A5	NM_003060.4(SLC22A5):c.1196G>A:p.Arg399Gln	coding	Pathogenic
5	132390886	A	G	A132390886G	SLC22A5	NM_003060.4(SLC22A5):c.1249A>G:p.Met417Val	coding	Benign/Likely_benign
5	132390889	C	T	C132390889T	SLC22A5	NM_003060.4(SLC22A5):c.1252C>T:p.Gln418Ter	coding	Pathogenic
5	132392399	A	G	A132392399G	SLC22A5	NM_003060.4(SLC22A5):c.1268-34A>G	noncoding	Benign
5	132392449	T	A	T132392449A	SLC22A5	NM_003060.4(SLC22A5):c.1284T>A:p.Ala428=	coding	Benign
5	132392484	C	T	C132392484T	SLC22A5	NM_003060.4(SLC22A5):c.1319C>T:p.Thr440Met	coding	Pathogenic
5	132392505	A	G	A132392505G	SLC22A5	NM_003060.4(SLC22A5):c.1340A>G:p.Tyr447Cys	coding	Pathogenic/Likely_pathogenic
5	132392533	A	G	A132392533G	SLC22A5	NM_003060.4(SLC22A5):c.1368A>G:p.Thr456=	coding	Benign/Likely_benign
5	132392565	C	G	C132392565G	SLC22A5	NM_003060.4(SLC22A5):c.1400C>G:p.Ser467Cys	coding	Pathogenic/Likely_pathogenic
5	132392568	C	G	C132392568G	SLC22A5	NM_003060.4(SLC22A5):c.1403C>G:p.Thr468Arg	coding	Pathogenic/Likely_pathogenic
5	132392576	C	T	C132392576T	SLC22A5	NM_003060.4(SLC22A5):c.1411C>T:p.Arg471Cys	coding	Pathogenic
5	132392577	G	A	G132392577A	SLC22A5	NM_003060.4(SLC22A5):c.1412G>A:p.Arg471His	coding	Pathogenic
5	132392599	C	T	C132392599T	SLC22A5	NM_003060.4(SLC22A5):c.1434C>T:p.Pro478=	coding	Benign/Likely_benign
5	132393426	A	C	A132393426C	SLC22A5	NM_003060.4(SLC22A5):c.1451-250A>C	noncoding	Benign
5	132393660	G	A	G132393660A	SLC22A5	NM_003060.4(SLC22A5):c.1451-16G>A	noncoding	Benign/Likely_benign
5	132393687	C	T	C132393687T	SLC22A5	NM_003060.4(SLC22A5):c.1462C>T:p.Arg488Cys	coding	Pathogenic
5	132394147	A	C	A132394147C	SLC22A5	NM_003060.4(SLC22A5):c.1587-38A>C	noncoding	Benign
5	132394188	G	T	G132394188T	SLC22A5	NM_003060.4(SLC22A5):c.1590G>T:p.Met530Ile	coding	Benign/Likely_benign
5	132394243	C	T	C132394243T	SLC22A5	NM_003060.4(SLC22A5):c.1645C>T:p.Pro549Ser	coding	Benign/Likely_benign
5	132394319	C	T	C132394319T	SLC22A5	NM_003060.4(SLC22A5):c.*47C>T	noncoding	Benign
5	132395115	T	C	T132395115C	SLC22A5	NM_003060.4(SLC22A5):c.*843T>C	noncoding	Benign
5	132395612	A	T	A132395612T	SLC22A5	NM_003060.4(SLC22A5):c.*1340A>T	noncoding	Benign
5	132486973	G	C	G132486973C	IRF1	NM_002198.3(IRF1):c.345C>G:p.Leu115=	coding	Benign
5	132489448	A	G	A132489448G	IRF1	NM_002198.3(IRF1):c.31T>C:p.Trp11Arg	coding	Pathogenic
5	132489457	T	A	T132489457A	IRF1	NM_002198.3(IRF1):c.22A>T:p.Met8Leu	coding	Pathogenic
5	132541832	G	T	G132541832T	IL5	NM_000879.3(IL5):c.384C>A:p.Thr128=	coding	Benign
5	132541904	C	T	C132541904T	IL5	NM_000879.3(IL5):c.312G>A:p.Lys104=	coding	Benign
5	132543371	C	A	C132543371A	IL5	NM_000879.3(IL5):c.108G>T:p.Leu36=	coding	Benign
5	132557376	G	T	G132557376T	RAD50	NM_005732.4(RAD50):c.52G>T:p.Glu18Ter	coding	Pathogenic
5	132575733	G	A	G132575733A	RAD50	NM_005732.4(RAD50):c.214-44G>A	noncoding	Benign
5	132579363	C	T	C132579363T	RAD50	NM_005732.4(RAD50):c.412C>T:p.Arg138Ter	coding	Pathogenic
5	132579422	T	A	T132579422A	RAD50	NM_005732.4(RAD50):c.471T>A:p.Cys157Ter	coding	Pathogenic
5	132579521	G	A	G132579521A	RAD50	NM_005732.4(RAD50):c.551+19G>A	noncoding	Benign
5	132579587	A	G	A132579587G	RAD50	NM_005732.4(RAD50):c.551+85A>G	noncoding	Benign
5	132579882	C	T	C132579882T	RAD50	NM_005732.4(RAD50):c.572C>T:p.Thr191Ile	coding	Benign/Likely_benign
5	132579953	C	T	C132579953T	RAD50	NM_005732.4(RAD50):c.643C>T:p.Gln215Ter	coding	Pathogenic
5	132579986	C	T	C132579986T	RAD50	NM_005732.4(RAD50):c.676C>T:p.Gln226Ter	coding	Pathogenic
5	132587637	C	T	C132587637T	RAD50	NM_005732.4(RAD50):c.832C>T:p.Arg278Ter	coding	Pathogenic
5	132587701	G	A	G132587701A	RAD50	NM_005732.4(RAD50):c.885+11G>A	noncoding	Benign
5	132587942	G	T	G132587942T	RAD50	NM_005732.4(RAD50):c.904G>T:p.Glu302Ter	coding	Pathogenic
5	132587972	C	T	C132587972T	RAD50	NM_005732.4(RAD50):c.934C>T:p.Gln312Ter	coding	Pathogenic
5	132588649	C	T	C132588649T	RAD50	NM_005732.4(RAD50):c.1052-38C>T	noncoding	Benign
5	132588716	C	T	C132588716T	RAD50	NM_005732.4(RAD50):c.1081C>T:p.Gln361Ter	coding	Pathogenic
5	132588728	C	T	C132588728T	RAD50	NM_005732.4(RAD50):c.1093C>T:p.Arg365Ter	coding	Pathogenic/Likely_pathogenic
5	132588741	C	G	C132588741G	RAD50	NM_005732.4(RAD50):c.1106C>G:p.Ser369Ter	coding	Pathogenic
5	132588749	C	T	C132588749T	RAD50	NM_005732.4(RAD50):c.1114C>T:p.Gln372Ter	coding	Pathogenic
5	132588809	C	T	C132588809T	RAD50	NM_005732.4(RAD50):c.1174C>T:p.Gln392Ter	coding	Pathogenic
5	132588836	A	T	A132588836T	RAD50	NM_005732.4(RAD50):c.1201A>T:p.Arg401Ter	coding	Pathogenic
5	132588845	C	T	C132588845T	RAD50	NM_005732.4(RAD50):c.1210C>T:p.Gln404Ter	coding	Pathogenic
5	132588848	G	T	G132588848T	RAD50	NM_005732.4(RAD50):c.1213G>T:p.Glu405Ter	coding	Pathogenic
5	132588872	C	T	C132588872T	RAD50	NM_005732.4(RAD50):c.1237C>T:p.Gln413Ter	coding	Pathogenic/Likely_pathogenic
5	132588881	G	A	G132588881A	RAD50	NM_005732.4(RAD50):c.1245+1G>A	coding	Pathogenic/Likely_pathogenic
5	132589745	C	T	C132589745T	RAD50	NM_005732.4(RAD50):c.1360C>T:p.Gln454Ter	coding	Pathogenic
5	132589751	G	T	G132589751T	RAD50	NM_005732.4(RAD50):c.1366G>T:p.Glu456Ter	coding	Pathogenic
5	132589766	A	T	A132589766T	RAD50	NM_005732.4(RAD50):c.1381A>T:p.Lys461Ter	coding	Pathogenic
5	132589778	C	T	C132589778T	RAD50	NM_005732.4(RAD50):c.1393C>T:p.Gln465Ter	coding	Pathogenic
5	132591354	T	G	T132591354G	RAD50	NM_005732.4(RAD50):c.1583T>G:p.Leu528Ter	coding	Pathogenic
5	132591404	A	T	A132591404T	RAD50	NM_005732.4(RAD50):c.1633A>T:p.Lys545Ter	coding	Pathogenic
5	132591964	C	T	C132591964T	RAD50	NM_005732.4(RAD50):c.1723C>T:p.Gln575Ter	coding	Pathogenic
5	132591977	G	A	G132591977A	RAD50	NM_005732.4(RAD50):c.1736G>A:p.Trp579Ter	coding	Pathogenic
5	132592006	C	T	C132592006T	RAD50	NM_005732.4(RAD50):c.1765C>T:p.Gln589Ter	coding	Pathogenic
5	132594888	G	T	G132594888T	RAD50	NM_005732.4(RAD50):c.1813G>T:p.Glu605Ter	coding	Pathogenic
5	132594950	C	G	C132594950G	RAD50	NM_005732.4(RAD50):c.1875C>G:p.Tyr625Ter	coding	Pathogenic
5	132594950	C	T	C132594950T	RAD50	NM_005732.4(RAD50):c.1875C>T:p.Tyr625=	coding	Benign/Likely_benign
5	132595033	C	A	C132595033A	RAD50	NM_005732.4(RAD50):c.1958C>A:p.Ser653Ter	coding	Pathogenic
5	132595038	C	T	C132595038T	RAD50	NM_005732.4(RAD50):c.1963C>T:p.Gln655Ter	coding	Pathogenic
5	132595041	C	T	C132595041T	RAD50	NM_005732.4(RAD50):c.1966C>T:p.Arg656Ter	coding	Pathogenic
5	132595617	C	T	C132595617T	RAD50	NM_005732.4(RAD50):c.2014C>T:p.Gln672Ter	coding	Pathogenic
5	132595628	C	T	C132595628T	RAD50	NM_005732.4(RAD50):c.2025C>T:p.Asp675=	coding	Benign
5	132595629	G	T	G132595629T	RAD50	NM_005732.4(RAD50):c.2026G>T:p.Glu676Ter	coding	Pathogenic
5	132595686	C	T	C132595686T	RAD50	NM_005732.4(RAD50):c.2083C>T:p.Gln695Ter	coding	Pathogenic
5	132595689	G	T	G132595689T	RAD50	NM_005732.4(RAD50):c.2086G>T:p.Glu696Ter	coding	Pathogenic
5	132595694	C	T	C132595694T	RAD50	NM_005732.4(RAD50):c.2091C>T:p.Val697=	coding	Benign/Likely_benign
5	132595719	C	T	C132595719T	RAD50	NM_005732.4(RAD50):c.2116C>T:p.Arg706Ter	coding	Pathogenic
5	132603301	C	T	C132603301T	RAD50	NM_005732.4(RAD50):c.2209C>T:p.Gln737Ter	coding	Pathogenic
5	132603319	A	T	A132603319T	RAD50	NM_005732.4(RAD50):c.2227A>T:p.Lys743Ter	coding	Pathogenic
5	132603355	C	T	C132603355T	RAD50	NM_005732.4(RAD50):c.2263C>T:p.Gln755Ter	coding	Pathogenic
5	132603376	C	T	C132603376T	RAD50	NM_005732.4(RAD50):c.2284C>T:p.Gln762Ter	coding	Pathogenic
5	132603444	T	C	T132603444C	RAD50	NM_005732.4(RAD50):c.2352T>C:p.Ser784=	coding	Benign/Likely_benign
5	132603478	G	T	G132603478T	RAD50	NM_005732.4(RAD50):c.2386G>T:p.Glu796Ter	coding	Pathogenic
5	132603989	C	T	C132603989T	RAD50	NM_005732.4(RAD50):c.2467C>T:p.Arg823Ter	coding	Pathogenic
5	132603998	C	T	C132603998T	RAD50	NM_005732.4(RAD50):c.2476C>T:p.Gln826Ter	coding	Pathogenic
5	132604038	T	A	T132604038A	RAD50	NM_005732.4(RAD50):c.2516T>A:p.Leu839Ter	coding	Pathogenic
5	132604850	C	T	C132604850T	RAD50	NM_005732.4(RAD50):c.2569C>T:p.Gln857Ter	coding	Pathogenic
5	132604886	G	T	G132604886T	RAD50	NM_005732.4(RAD50):c.2605G>T:p.Glu869Ter	coding	Pathogenic
5	132604939	A	G	A132604939G	RAD50	NM_005732.4(RAD50):c.2658A>G:p.Gln886=	coding	Benign/Likely_benign
5	132604949	C	T	C132604949T	RAD50	NM_005732.4(RAD50):c.2668C>T:p.Gln890Ter	coding	Pathogenic
5	132604951	G	A	G132604951A	RAD50	NM_005732.4(RAD50):c.2670G>A:p.Gln890=	coding	Benign/Likely_benign
5	132608666	C	T	C132608666T	RAD50	NM_005732.4(RAD50):c.2770C>T:p.Gln924Ter	coding	Pathogenic
5	132608717	C	T	C132608717T	RAD50	NM_005732.4(RAD50):c.2821C>T:p.Gln941Ter	coding	Pathogenic
5	132609171	G	T	G132609171T	RAD50	NM_005732.4(RAD50):c.2884G>T:p.Glu962Ter	coding	Pathogenic
5	132609197	C	T	C132609197T	RAD50	NM_005732.4(RAD50):c.2910C>T:p.Asp970=	coding	Benign/Likely_benign
5	132609289	G	T	G132609289T	RAD50	NM_005732.4(RAD50):c.2929G>T:p.Glu977Ter	coding	Pathogenic
5	132609304	A	T	A132609304T	RAD50	NM_005732.4(RAD50):c.2944A>T:p.Lys982Ter	coding	Pathogenic
5	132609316	C	T	C132609316T	RAD50	NM_005732.4(RAD50):c.2956C>T:p.Gln986Ter	coding	Pathogenic
5	132609340	A	T	A132609340T	RAD50	NM_005732.4(RAD50):c.2980A>T:p.Lys994Ter	coding	Pathogenic
5	132616000	T	C	T132616000C	RAD50	NM_005732.4(RAD50):c.3037-3T>C	noncoding	Benign
5	132616006	C	T	C132616006T	RAD50	NM_005732.4(RAD50):c.3040C>T:p.Gln1014Ter	coding	Pathogenic
5	132616016	G	A	G132616016A	RAD50	NM_005732.4(RAD50):c.3050G>A:p.Trp1017Ter	coding	Pathogenic
5	132616021	C	T	C132616021T	RAD50	NM_005732.4(RAD50):c.3055C>T:p.Gln1019Ter	coding	Pathogenic
5	132616069	G	T	G132616069T	RAD50	NM_005732.4(RAD50):c.3103G>T:p.Glu1035Ter	coding	Pathogenic
5	132616119	G	A	G132616119A	RAD50	NM_005732.4(RAD50):c.3153G>A:p.Leu1051=	coding	Benign/Likely_benign
5	132618062	T	G	T132618062G	RAD50	NM_005732.4(RAD50):c.3165-8T>G	noncoding	Benign/Likely_benign
5	132618066	A	T	A132618066T	RAD50	NM_005732.4(RAD50):c.3165-4A>T	noncoding	Benign
5	132618080	A	T	A132618080T	RAD50	NM_005732.4(RAD50):c.3175A>T:p.Lys1059Ter	coding	Pathogenic
5	132618084	T	A	T132618084A	RAD50	NM_005732.4(RAD50):c.3179T>A:p.Leu1060Ter	coding	Pathogenic
5	132618134	C	T	C132618134T	RAD50	NM_005732.4(RAD50):c.3229C>T:p.Arg1077Ter	coding	Pathogenic
5	132618182	C	T	C132618182T	RAD50	NM_005732.4(RAD50):c.3277C>T:p.Arg1093Ter	coding	Pathogenic/Likely_pathogenic
5	132618277	T	A	T132618277A	RAD50	NM_005732.4(RAD50):c.3372T>A:p.Tyr1124Ter	coding	Pathogenic
5	132618277	T	G	T132618277G	RAD50	NM_005732.4(RAD50):c.3372T>G:p.Tyr1124Ter	coding	Pathogenic
5	132637179	C	T	C132637179T	RAD50	NM_005732.4(RAD50):c.3454C>T:p.Arg1152Ter	coding	Pathogenic
5	132638112	C	T	C132638112T	RAD50	NM_005732.4(RAD50):c.3507C>T:p.Ala1169=	coding	Benign/Likely_benign
5	132638158	C	T	C132638158T	RAD50	NM_005732.4(RAD50):c.3553C>T:p.Arg1185Ter	coding	Pathogenic
5	132638197	C	T	C132638197T	RAD50	NM_005732.4(RAD50):c.3592C>T:p.Arg1198Ter	coding	Pathogenic
5	132638203	C	T	C132638203T	RAD50	NM_005732.4(RAD50):c.3598C>T:p.Arg1200Ter	coding	Pathogenic
5	132640708	G	T	G132640708T	RAD50	NM_005732.4(RAD50):c.3655G>T:p.Glu1219Ter	coding	Pathogenic
5	132640768	C	T	C132640768T	RAD50	NM_005732.4(RAD50):c.3715C>T:p.Arg1239Ter	coding	Pathogenic/Likely_pathogenic
5	132642212	C	T	C132642212T	RAD50	NM_005732.4(RAD50):c.3787C>T:p.Gln1263Ter	coding	Pathogenic
5	132642271	T	C	T132642271C	RAD50	NM_005732.4(RAD50):c.3846T>C:p.Tyr1282=	coding	Benign
5	132642286	C	T	C132642286T	RAD50	NM_005732.4(RAD50):c.3861C>T:p.Tyr1287=	coding	Benign/Likely_benign
5	132642304	C	T	C132642304T	RAD50	NM_005732.4(RAD50):c.3879C>T:p.Ile1293=	coding	Benign/Likely_benign
5	132658339	C	A	C132658339A	IL13	NM_002188.3(IL13):c.153C>A:p.Val51=	coding	Benign
5	132679863	C	T	C132679863T	IL4	NM_000589.4(IL4):c.333C>T:p.Asp111=	coding	Benign
5	132823884	C	T	C132823884T	SHROOM1	NM_001172700.2(SHROOM1):c.1777G>A:p.Ala593Thr	coding	Benign
5	132825178	G	A	G132825178A	SHROOM1	NM_001172700.2(SHROOM1):c.963C>T:p.Thr321=	coding	Benign
5	132862408	C	T	C132862408T	GDF9	NM_005260.5(GDF9):c.546G>A:p.Glu182=	coding	Benign
5	132864565	T	C	T132864565C	GDF9	NM_005260.5(GDF9):c.-32A>G	noncoding	Benign
5	132867015	C	T	C132867015T	UQCRQ	NM_014402.5(UQCRQ):c.134C>T:p.Ser45Phe	coding	Pathogenic
5	132867052	C	T	C132867052T	UQCRQ	NM_014402.5(UQCRQ):c.154+17C>T	noncoding	Benign
5	132868260	G	A	G132868260A	UQCRQ	NM_014402.5(UQCRQ):c.*678G>A	noncoding	Benign
5	132868305	A	G	A132868305G	UQCRQ	NM_014402.5(UQCRQ):c.*723A>G	noncoding	Benign
5	132868339	G	A	G132868339A	UQCRQ	NM_014402.5(UQCRQ):c.*757G>A	noncoding	Benign
5	132883385	T	C	T132883385C	AFF4	NM_014423.4(AFF4):c.3319A>G:p.Thr1107Ala	coding	Benign
5	132887526	T	C	T132887526C	AFF4	NM_014423.4(AFF4):c.3000A>G:p.Val1000=	coding	Benign
5	132887887	T	C	T132887887C	AFF4	NM_014423.4(AFF4):c.2892A>G:p.Lys964=	coding	Benign
5	132896662	A	G	A132896662G	AFF4	NM_014423.4(AFF4):c.1968T>C:p.Ser656=	coding	Benign
5	132897100	G	A	G132897100A	AFF4	NM_014423.4(AFF4):c.1530C>T:p.Gly510=	coding	Benign
5	132897229	C	T	C132897229T	AFF4	NM_014423.4(AFF4):c.1401G>A:p.Pro467=	coding	Benign
5	132932229	A	C	A132932229C	AFF4	NM_014423.4(AFF4):c.919-7T>G	noncoding	Benign
5	132934246	C	T	C132934246T	AFF4	NM_014423.4(AFF4):c.819G>A:p.Glu273=	coding	Benign
5	132934255	C	T	C132934255T	AFF4	NM_014423.4(AFF4):c.810G>A:p.Leu270=	coding	Benign
5	132934293	G	A	G132934293A	AFF4	NM_014423.4(AFF4):c.772C>T:p.Arg258Trp	coding	Pathogenic/Likely_pathogenic
5	132934304	G	C	G132934304C	AFF4	NM_014423.4(AFF4):c.761C>G:p.Thr254Ser	coding	Pathogenic
5	132934305	T	C	T132934305C	AFF4	NM_014423.4(AFF4):c.760A>G:p.Thr254Ala	coding	Pathogenic
5	132934511	T	A	T132934511A	AFF4	NM_014423.4(AFF4):c.554A>T:p.Gln185Leu	coding	Benign
5	132934659	T	G	T132934659G	AFF4	NM_014423.4(AFF4):c.406A>C:p.Thr136Pro	coding	Benign
5	132934726	G	A	G132934726A	AFF4	NM_014423.4(AFF4):c.339C>T:p.Pro113=	coding	Benign
5	133052346	C	T	C133052346T	HSPA4	NM_002154.4(HSPA4):c.96C>T:p.Asp32=	coding	Benign
5	133073253	A	G	A133073253G	HSPA4	NM_002154.4(HSPA4):c.453A>G:p.Ala151=	coding	Benign
5	133074057	A	C	A133074057C	HSPA4	NM_002154.4(HSPA4):c.594A>C:p.Val198=	coding	Benign
5	133076650	T	A	T133076650A	HSPA4	NM_002154.4(HSPA4):c.664-4T>A	noncoding	Benign
5	133076816	T	C	T133076816C	HSPA4	NM_002154.4(HSPA4):c.826T>C:p.Leu276=	coding	Benign
5	133096088	A	G	A133096088G	HSPA4	NM_002154.4(HSPA4):c.1651-10A>G	noncoding	Benign
5	133099561	C	G	C133099561G	HSPA4	NM_002154.4(HSPA4):c.1946C>G:p.Thr649Ser	coding	Benign
5	133101807	C	T	C133101807T	HSPA4	NM_002154.4(HSPA4):c.2086C>T:p.Pro696Ser	coding	Benign
5	133199533	G	A	G133199533A	FSTL4	NM_015082.2(FSTL4):c.2091C>T:p.Asp697=	coding	Benign
5	133220831	C	T	C133220831T	FSTL4	NM_015082.2(FSTL4):c.1375G>A:p.Asp459Asn	coding	Benign
5	133225142	C	T	C133225142T	FSTL4	NM_015082.2(FSTL4):c.1312+8G>A	noncoding	Benign
5	133233454	G	A	G133233454A	FSTL4	NM_015082.2(FSTL4):c.978C>T:p.His326=	coding	Benign
5	134200349	G	C	G134200349C	PPP2CA	NM_002715.4(PPP2CA):c.724C>G:p.Gln242Glu	coding	Pathogenic
5	134201961	G	A	G134201961A	PPP2CA	NM_002715.4(PPP2CA):c.373C>T:p.Gln125Ter	coding	Pathogenic
5	134205971	T	C	T134205971C	PPP2CA	NM_002715.4(PPP2CA):c.263A>G:p.Asp88Gly	coding	Pathogenic/Likely_pathogenic
5	134306639	A	G	A134306639G	CDKL3	NM_001113575.2(CDKL3):c.1428T>C:p.Asn476=	coding	Benign
5	134308718	T	C	T134308718C	CDKL3	NM_001113575.2(CDKL3):c.891A>G:p.Pro297=	coding	Benign
5	134559913	C	T	C134559913T	JADE2	NM_001289985.2(JADE2):c.443C>T:p.Pro148Leu	coding	Benign
5	134606993	C	A	C134606993A	SAR1B	NM_016103.4(SAR1B):c.554G>T:p.Gly185Val	coding	Pathogenic
5	134607010	A	T	A134607010T	SAR1B	NM_016103.4(SAR1B):c.537T>A:p.Ser179Arg	coding	Pathogenic
5	134608443	C	T	C134608443T	SAR1B	NM_016103.4(SAR1B):c.409G>A:p.Asp137Asn	coding	Pathogenic/Likely_pathogenic
5	134608488	C	A	C134608488A	SAR1B	NM_016103.4(SAR1B):c.364G>T:p.Glu122Ter	coding	Pathogenic
5	134608504	C	G	C134608504G	SAR1B	NM_016103.4(SAR1B):c.349-1G>C	coding	Pathogenic
5	134621002	C	T	C134621002T	SAR1B	NM_016103.4(SAR1B):c.109G>A:p.Gly37Arg	coding	Pathogenic
5	134887970	C	T	C134887970T	TXNDC15	NM_024715.4(TXNDC15):c.379C>T:p.Arg127Ter	coding	Pathogenic
5	134896382	C	T	C134896382T	TXNDC15	NM_024715.3(TXNDC15):c.844C>T:p.Arg282Ter	coding	Pathogenic
5	135010483	C	T	C135010483T	CATSPER3	NM_178019.3(CATSPER3):c.1047C>T:p.Ile349=	coding	Benign
5	135028828	C	G	C135028828G	PITX1	NM_002653.5(PITX1):c.896G>C:p.Gly299Ala	coding	Benign
5	135029306	G	T	G135029306T	PITX1	NM_002653.5(PITX1):c.418C>A:p.Arg140=	coding	Benign
5	135031290	C	T	C135031290T	PITX1	NM_002653.5(PITX1):c.388G>A:p.Glu130Lys	coding	Pathogenic
5	135031291	G	A	G135031291A	PITX1	NM_002653.5(PITX1):c.387C>T:p.Thr129=	coding	Benign
5	135343265	G	A	G135343265A	MACROH2A1	NM_138610.2(MACROH2A1):c.948C>T:p.Ser316=	coding	Benign
5	135360551	T	C	T135360551C	MACROH2A1	NM_138610.2(MACROH2A1):c.534A>G:p.Thr178=	coding	Benign
5	135369490	G	A	G135369490A	MACROH2A1	NM_138610.2(MACROH2A1):c.393C>T:p.Pro131=	coding	Benign
5	135370028	G	A	G135370028A	MACROH2A1	NM_138610.2(MACROH2A1):c.279+8C>T	noncoding	Benign
5	135535143	G	T	G135535143T	NEUROG1	NM_006161.3(NEUROG1):c.548C>A:p.Ala183Glu	coding	Benign
5	135535550	C	T	C135535550T	NEUROG1	NM_006161.3(NEUROG1):c.141G>A:p.Pro47=	coding	Benign
5	135535590	C	T	C135535590T	NEUROG1	NM_006161.3(NEUROG1):c.101G>A:p.Arg34Lys	coding	Benign
5	136046406	C	A	C136046406A	TGFBI	NM_000358.3(TGFBI):c.370C>A:p.Arg124Ser	coding	Pathogenic
5	136046406	C	T	C136046406T	TGFBI	NM_000358.3(TGFBI):c.370C>T:p.Arg124Cys	coding	Pathogenic
5	136046407	G	A	G136046407A	TGFBI	NM_000358.3(TGFBI):c.371G>A:p.Arg124His	coding	Pathogenic
5	136046407	G	T	G136046407T	TGFBI	NM_000358.3(TGFBI):c.371G>T:p.Arg124Leu	coding	Pathogenic
5	136046835	C	T	C136046835T	TGFBI	NM_000358.3(TGFBI):c.460-16C>T	noncoding	Benign
5	136047300	G	C	G136047300C	TGFBI	NM_000358.3(TGFBI):c.651G>C:p.Leu217=	coding	Benign
5	136049472	C	T	C136049472T	TGFBI	NM_000358.3(TGFBI):c.805C>T:p.Leu269Phe	coding	Benign/Likely_benign
5	136049483	C	T	C136049483T	TGFBI	NM_000358.3(TGFBI):c.816C>T:p.Asn272=	coding	Benign
5	136052974	A	G	A136052974G	TGFBI	NM_000358.3(TGFBI):c.981A>G:p.Val327=	coding	Benign
5	136053020	A	G	A136053020G	TGFBI	NM_000358.3(TGFBI):c.1027A>G:p.Met343Val	coding	Benign
5	136054763	C	T	C136054763T	TGFBI	NM_000358.3(TGFBI):c.1312C>T:p.His438Tyr	coding	Benign
5	136055677	C	T	C136055677T	TGFBI	NM_000358.3(TGFBI):c.1411-3C>T	noncoding	Benign
5	136055685	C	T	C136055685T	TGFBI	NM_000358.3(TGFBI):c.1416C>T:p.Leu472=	coding	Benign
5	136055755	C	G	C136055755G	TGFBI	NM_000358.3(TGFBI):c.1486C>G:p.Arg496Gly	coding	Benign/Likely_benign
5	136055795	T	G	T136055795G	TGFBI	NM_000358.3(TGFBI):c.1526T>G:p.Leu509Arg	coding	Pathogenic
5	136056736	T	C	T136056736C	TGFBI	NM_000358.3(TGFBI):c.1619T>C:p.Phe540Ser	coding	Pathogenic
5	136056737	T	C	T136056737C	TGFBI	NM_000358.3(TGFBI):c.1620T>C:p.Phe540=	coding	Benign
5	136056780	C	T	C136056780T	TGFBI	NM_000358.3(TGFBI):c.1663C>T:p.Arg555Trp	coding	Pathogenic
5	136056781	G	A	G136056781A	TGFBI	NM_000358.3(TGFBI):c.1664G>A:p.Arg555Gln	coding	Pathogenic
5	136059214	G	A	G136059214A	TGFBI	NM_000358.3(TGFBI):c.1803G>A:p.Leu601=	coding	Benign
5	136060898	G	A	G136060898A	TGFBI	NM_000358.3(TGFBI):c.1868G>A:p.Gly623Asp	coding	Pathogenic
5	136063181	T	C	T136063181C	TGFBI	NM_000358.3(TGFBI):c.2012-5T>C	noncoding	Benign/Likely_benign
5	136063493	C	A	C136063493A	TGFBI	NM_000358.3(TGFBI):c.*267C>A	noncoding	Benign
5	136063684	G	A	G136063684A	TGFBI	NM_000358.3(TGFBI):c.*458G>A	noncoding	Benign
5	137498449	T	C	T137498449C	SPOCK1	NM_004598.4(SPOCK1):c.110A>G:p.Asn37Ser	coding	Benign
5	137617677	G	A	G137617677A	KLHL3	NM_017415.3(KLHL3):c.*4421C>T	noncoding	Benign
5	137617888	T	C	T137617888C	KLHL3	NM_017415.3(KLHL3):c.*4210A>G	noncoding	Benign
5	137618033	G	A	G137618033A	KLHL3	NM_017415.3(KLHL3):c.*4065C>T	noncoding	Benign/Likely_benign
5	137618092	G	A	G137618092A	KLHL3	NM_017415.3(KLHL3):c.*4006C>T	noncoding	Benign/Likely_benign
5	137618400	C	T	C137618400T	KLHL3	NM_017415.3(KLHL3):c.*3698G>A	noncoding	Benign
5	137618854	C	A	C137618854A	KLHL3	NM_017415.3(KLHL3):c.*3244G>T	noncoding	Benign
5	137618893	T	A	T137618893A	KLHL3	NM_017415.3(KLHL3):c.*3205A>T	noncoding	Benign
5	137618970	G	C	G137618970C	KLHL3	NM_017415.3(KLHL3):c.*3128C>G	noncoding	Benign/Likely_benign
5	137619030	T	C	T137619030C	KLHL3	NM_017415.3(KLHL3):c.*3068A>G	noncoding	Benign
5	137619172	A	G	A137619172G	KLHL3	NM_017415.3(KLHL3):c.*2926T>C	noncoding	Benign
5	137619293	T	C	T137619293C	KLHL3	NM_017415.3(KLHL3):c.*2805A>G	noncoding	Benign/Likely_benign
5	137619411	G	A	G137619411A	KLHL3	NM_017415.3(KLHL3):c.*2687C>T	noncoding	Benign/Likely_benign
5	137619613	A	C	A137619613C	KLHL3	NM_017415.3(KLHL3):c.*2485T>G	noncoding	Benign/Likely_benign
5	137619694	G	T	G137619694T	KLHL3	NM_017415.3(KLHL3):c.*2404C>A	noncoding	Benign
5	137619831	A	T	A137619831T	KLHL3	NM_017415.3(KLHL3):c.*2267T>A	noncoding	Benign/Likely_benign
5	137619850	G	A	G137619850A	KLHL3	NM_017415.3(KLHL3):c.*2248C>T	noncoding	Benign/Likely_benign
5	137620018	T	G	T137620018G	KLHL3	NM_017415.3(KLHL3):c.*2080A>C	noncoding	Benign
5	137620202	A	C	A137620202C	KLHL3	NM_017415.3(KLHL3):c.*1896T>G	noncoding	Benign/Likely_benign
5	137620647	T	C	T137620647C	KLHL3	NM_017415.3(KLHL3):c.*1451A>G	noncoding	Benign/Likely_benign
5	137620788	G	A	G137620788A	KLHL3	NM_017415.3(KLHL3):c.*1310C>T	noncoding	Benign
5	137620992	C	A	C137620992A	KLHL3	NM_017415.3(KLHL3):c.*1106G>T	noncoding	Benign/Likely_benign
5	137620994	C	T	C137620994T	KLHL3	NM_017415.3(KLHL3):c.*1104G>A	noncoding	Benign
5	137621990	C	T	C137621990T	KLHL3	NM_017415.3(KLHL3):c.*108G>A	noncoding	Benign/Likely_benign
5	137625765	G	A	G137625765A	KLHL3	NM_017415.3(KLHL3):c.1723C>T:p.Arg575Trp	coding	Pathogenic
5	137625818	T	C	T137625818C	KLHL3	NM_017415.3(KLHL3):c.1670A>G:p.Tyr557Cys	coding	Pathogenic
5	137625877	C	A	C137625877A	KLHL3	NM_017415.3(KLHL3):c.1611G>T:p.Gly537=	coding	Benign
5	137628301	G	T	G137628301T	KLHL3	NM_017415.3(KLHL3):c.1587C>A:p.Asn529Lys	coding	Pathogenic
5	137628305	C	T	C137628305T	KLHL3	NM_017415.3(KLHL3):c.1583G>A:p.Arg528His	coding	Pathogenic
5	137628306	G	A	G137628306A	KLHL3	NM_017415.3(KLHL3):c.1582C>T:p.Arg528Cys	coding	Pathogenic
5	137628370	G	A	G137628370A	KLHL3	NM_017415.3(KLHL3):c.1518C>T:p.Ser506=	coding	Benign/Likely_benign
5	137628387	G	T	G137628387T	KLHL3	NM_017415.3(KLHL3):c.1501C>A:p.Pro501Thr	coding	Pathogenic
5	137628408	C	T	C137628408T	KLHL3	NM_017415.3(KLHL3):c.1480G>A:p.Ala494Thr	coding	Pathogenic
5	137634077	C	T	C137634077T	KLHL3	NM_017415.3(KLHL3):c.1410G>A:p.Trp470Ter	coding	Pathogenic
5	137634086	G	T	G137634086T	KLHL3	NM_017415.3(KLHL3):c.1401C>A:p.Thr467=	coding	Benign/Likely_benign
5	137634104	C	T	C137634104T	KLHL3	NM_017415.3(KLHL3):c.1383G>A:p.Glu461=	coding	Benign
5	137634160	G	A	G137634160A	KLHL3	NM_017415.3(KLHL3):c.1327C>T:p.Leu443=	coding	Benign
5	137637317	C	T	C137637317T	KLHL3	NM_017415.3(KLHL3):c.1298G>A:p.Ser433Asn	coding	Pathogenic
5	137637320	C	T	C137637320T	KLHL3	NM_017415.3(KLHL3):c.1295G>A:p.Ser432Asn	coding	Pathogenic
5	137637323	C	T	C137637323T	KLHL3	NM_017415.3(KLHL3):c.1292G>A:p.Arg431Gln	coding	Pathogenic
5	137637335	A	G	A137637335G	KLHL3	NM_017415.3(KLHL3):c.1280T>C:p.Met427Thr	coding	Pathogenic
5	137637338	G	A	G137637338A	KLHL3	NM_017415.3(KLHL3):c.1277C>T:p.Pro426Leu	coding	Pathogenic
5	137637386	G	A	G137637386A	KLHL3	NM_017415.3(KLHL3):c.1229C>T:p.Ser410Leu	coding	Pathogenic
5	137638979	G	A	G137638979A	KLHL3	NM_017415.3(KLHL3):c.1193C>T:p.Ala398Val	coding	Pathogenic
5	137639012	A	G	A137639012G	KLHL3	NM_017415.3(KLHL3):c.1160T>C:p.Leu387Pro	coding	Pathogenic
5	137639021	C	T	C137639021T	KLHL3	NM_017415.3(KLHL3):c.1151G>A:p.Arg384Gln	coding	Pathogenic
5	137639855	C	T	C137639855T	KLHL3	NM_017415.3(KLHL3):c.1021+5G>A	noncoding	Benign/Likely_benign
5	137639862	G	A	G137639862A	KLHL3	NM_017415.3(KLHL3):c.1019C>T:p.Ala340Val	coding	Pathogenic
5	137639874	C	A	C137639874A	KLHL3	NM_017415.3(KLHL3):c.1007G>T:p.Arg336Ile	coding	Pathogenic
5	137639916	A	C	A137639916C	KLHL3	NM_017415.3(KLHL3):c.965T>G:p.Phe322Cys	coding	Pathogenic
5	137639955	T	C	T137639955C	KLHL3	NM_017415.3(KLHL3):c.926A>G:p.Gln309Arg	coding	Pathogenic
5	137639982	G	A	G137639982A	KLHL3	NM_017415.3(KLHL3):c.904-5C>T	noncoding	Benign/Likely_benign
5	137658196	G	A	G137658196A	KLHL3	NM_017415.3(KLHL3):c.838C>T:p.Leu280=	coding	Benign/Likely_benign
5	137661914	C	T	C137661914T	KLHL3	NM_017415.3(KLHL3):c.753+1G>A	noncoding	Pathogenic
5	137661950	G	A	G137661950A	KLHL3	NM_017415.3(KLHL3):c.718C>T:p.Arg240Ter	coding	Pathogenic
5	137677554	T	C	T137677554C	KLHL3	NM_017415.3(KLHL3):c.627A>G:p.Ser209=	coding	Benign
5	137692271	C	T	C137692271T	KLHL3	NM_017415.3(KLHL3):c.526+14G>A	noncoding	Benign
5	137692320	C	A	C137692320A	KLHL3	NM_017415.3(KLHL3):c.491G>T:p.Cys164Phe	coding	Pathogenic
5	137692340	T	C	T137692340C	KLHL3	NM_017415.3(KLHL3):c.471A>G:p.Ala157=	coding	Benign
5	137692381	G	A	G137692381A	KLHL3	NM_017415.3(KLHL3):c.430C>T:p.Gln144Ter	coding	Pathogenic
5	137698396	T	G	T137698396G	KLHL3	NM_017415.3(KLHL3):c.254A>C:p.Glu85Ala	coding	Pathogenic
5	137709759	T	C	T137709759C	KLHL3	NM_017415.3(KLHL3):c.232A>G:p.Met78Val	coding	Pathogenic
5	137709761	G	T	G137709761T	KLHL3	NM_017415.3(KLHL3):c.230C>A:p.Ala77Glu	coding	Pathogenic
5	137709838	G	A	G137709838A	KLHL3	NM_017415.3(KLHL3):c.153C>T:p.Asp51=	coding	Benign
5	137735902	A	T	A137735902T	KLHL3	NM_017415.3(KLHL3):c.-256T>A	noncoding	Benign/Likely_benign
5	137735921	C	G	C137735921G	KLHL3	NM_017415.3(KLHL3):c.-275G>C	noncoding	Benign/Likely_benign
5	137736021	G	A	G137736021A	KLHL3	NM_017415.3(KLHL3):c.-375C>T	noncoding	Benign
5	137753551	T	C	T137753551C	HNRNPA0	NM_006805.4(HNRNPA0):c.516A>G:p.Lys172=	coding	Benign
5	137867914	A	G	A137867914G	MYOT	NM_006790.2(MYOT):c.-251A>G	noncoding	Benign/Likely_benign
5	137867932	C	A	C137867932A	MYOT	NM_006790.2(MYOT):c.-233C>A	noncoding	Benign/Likely_benign
5	137870800	A	G	A137870800G	MYOT	NM_006790.2(MYOT):c.149A>G:p.Gln50Arg	coding	Benign/Likely_benign
5	137870815	C	T	C137870815T	MYOT	NM_006790.2(MYOT):c.164C>T:p.Ser55Phe	coding	Pathogenic/Likely_pathogenic
5	137870821	C	T	C137870821T	MYOT	NM_006790.2(MYOT):c.170C>T:p.Thr57Ile	coding	Pathogenic
5	137870830	C	G	C137870830G	MYOT	NM_006790.2(MYOT):c.179C>G:p.Ser60Cys	coding	Pathogenic
5	137870830	C	T	C137870830T	MYOT	NM_006790.2(MYOT):c.179C>T:p.Ser60Phe	coding	Pathogenic
5	137870871	C	A	C137870871A	MYOT	NM_006790.2(MYOT):c.220C>A:p.Gln74Lys	coding	Benign/Likely_benign
5	137870891	C	T	C137870891T	MYOT	NM_006790.2(MYOT):c.240C>T:p.Asn80=	coding	Benign/Likely_benign
5	137870935	G	T	G137870935T	MYOT	NM_001135940.2(MYOT):c.-197+410G>T	coding	Pathogenic
5	137870994	G	A	G137870994A	MYOT	NM_006790.2(MYOT):c.343G>A:p.Ala115Thr	coding	Benign/Likely_benign
5	137875579	T	G	T137875579G	MYOT	NM_006790.2(MYOT):c.357-250T>G	noncoding	Benign
5	137875917	G	C	G137875917C	MYOT	NM_006790.2(MYOT):c.445G>C:p.Glu149Gln	coding	Benign/Likely_benign
5	137877559	G	C	G137877559C	MYOT	NM_006790.2(MYOT):c.571G>C:p.Gly191Arg	coding	Benign/Likely_benign
5	137877605	G	A	G137877605A	MYOT	NM_006790.2(MYOT):c.617G>A:p.Gly206Asp	coding	Benign/Likely_benign
5	137877618	G	A	G137877618A	MYOT	NM_006790.2(MYOT):c.630G>A:p.Ser210=	coding	Benign/Likely_benign
5	137880801	T	C	T137880801C	MYOT	NM_006790.2(MYOT):c.634-15T>C	noncoding	Benign
5	137882069	G	A	G137882069A	MYOT	NM_006790.2(MYOT):c.780G>A:p.Ser260=	coding	Benign/Likely_benign
5	137883389	T	C	T137883389C	MYOT	NM_006790.2(MYOT):c.822T>C:p.Ser274=	coding	Benign/Likely_benign
5	137883575	G	T	G137883575T	MYOT	NM_006790.2(MYOT):c.1008G>T:p.Val336=	coding	Benign/Likely_benign
5	137886220	T	C	T137886220C	MYOT	NM_006790.2(MYOT):c.1190+7T>C	noncoding	Benign/Likely_benign
5	137886225	A	G	A137886225G	MYOT	NM_006790.2(MYOT):c.1190+12A>G	noncoding	Benign/Likely_benign
5	137887209	T	A	T137887209A	MYOT	NM_006790.3(MYOT):c.1325-4T>A	noncoding	Benign
5	137887483	G	A	G137887483A	MYOT	NM_006790.2(MYOT):c.*98G>A	noncoding	Benign
5	137887575	C	G	C137887575G	MYOT	NM_006790.2(MYOT):c.*190C>G	noncoding	Benign/Likely_benign
5	137887789	G	A	G137887789A	MYOT	NM_006790.3(MYOT):c.*404G>A	noncoding	Benign/Likely_benign
5	137887848	C	T	C137887848T	MYOT	NM_006790.2(MYOT):c.*463C>T	noncoding	Benign/Likely_benign
5	138145223	G	C	G138145223C	BRD8	NM_139199.2(BRD8):c.3391C>G:p.Pro1131Ala	coding	Benign
5	138145841	A	C	A138145841C	BRD8	NM_139199.2(BRD8):c.3316T>G:p.Leu1106Val	coding	Benign
5	138152651	A	G	A138152651G	BRD8	NM_139199.2(BRD8):c.2687T>C:p.Leu896Pro	coding	Benign
5	138181443	G	A	G138181443A	KIF20A	NM_005733.3(KIF20A):c.187G>A:p.Glu63Lys	coding	Benign
5	138186028	C	T	C138186028T	KIF20A	NM_005733.3(KIF20A):c.2193C>T:p.Asp731=	coding	Benign
5	138189633	A	G	A138189633G	CDC23	NM_004661.4(CDC23):c.1623T>C:p.Asp541=	coding	Benign
5	138192259	C	T	C138192259T	CDC23	NM_004661.4(CDC23):c.1286+10G>A	noncoding	Benign
5	138253842	G	A	G138253842A	GFRA3	NM_001496.4(GFRA3):c.948C>T:p.Cys316=	coding	Benign
5	138352928	C	T	C138352928T	KDM3B	NM_016604.4(KDM3B):c.133C>T:p.Arg45Ter	coding	Pathogenic
5	138372758	G	T	G138372758T	KDM3B	NM_016604.4(KDM3B):c.277G>T:p.Glu93Ter	coding	Pathogenic
5	138386248	A	G	A138386248G	KDM3B	NM_016604.4(KDM3B):c.1007A>G:p.Asp336Gly	coding	Pathogenic
5	138386557	C	G	C138386557G	KDM3B	NM_016604.4(KDM3B):c.1316C>G:p.Thr439Ser	coding	Benign
5	138393369	G	A	G138393369A	KDM3B	NM_016604.4(KDM3B):c.2828G>A:p.Arg943Gln	coding	Pathogenic
5	138399908	A	T	A138399908T	KDM3B	NM_016604.4(KDM3B):c.3095A>T:p.Asp1032Val	coding	Pathogenic
5	138419022	C	T	C138419022T	KDM3B	NM_016604.4(KDM3B):c.3505C>T:p.Pro1169Ser	coding	Benign
5	138419109	G	T	G138419109T	KDM3B	NM_016604.4(KDM3B):c.3592G>T:p.Ala1198Ser	coding	Benign
5	138420941	G	T	G138420941T	KDM3B	NM_016604.4(KDM3B):c.3951G>T:p.Pro1317=	coding	Benign
5	138424218	G	T	G138424218T	KDM3B	NM_016604.4(KDM3B):c.4116G>T:p.Gly1372=	coding	Benign
5	138427012	C	G	C138427012G	KDM3B	NM_016604.4(KDM3B):c.4449C>G:p.Leu1483=	coding	Benign
5	138429848	G	A	G138429848A	KDM3B	NM_016604.4(KDM3B):c.4776G>A:p.Glu1592=	coding	Benign
5	138431545	G	A	G138431545A	KDM3B	NM_016604.4(KDM3B):c.5191G>A:p.Glu1731Lys	coding	Pathogenic
5	138441006	G	A	G138441006A	REEP2	NM_001271803.2(REEP2):c.33-10G>A	coding	Benign
5	138441061	C	T	C138441061T	REEP2	NM_001271803.2(REEP2):c.78C>T:p.Ala26=	coding	Benign
5	138441091	G	T	G138441091T	REEP2	NM_001271803.2(REEP2):c.105+3G>T	noncoding	Pathogenic
5	138441386	T	A	T138441386A	REEP2	NM_001271803.2(REEP2):c.107T>A:p.Val36Glu	coding	Pathogenic
5	138444447	T	A	T138444447A	REEP2	NM_001271803.2(REEP2):c.215T>A:p.Phe72Tyr	coding	Pathogenic
5	138444484	C	T	C138444484T	REEP2	NM_001271803.2(REEP2):c.252C>T:p.Ser84=	coding	Benign
5	138466962	G	C	G138466962C	EGR1	NM_001964.3(EGR1):c.513G>C:p.Ser171=	coding	Benign
5	138467466	T	G	T138467466G	EGR1	NM_001964.3(EGR1):c.1017T>G:p.Ala339=	coding	Benign
5	138556533	G	A	G138556533A	HSPA9	NM_004134.7(HSPA9):c.1881C>T:p.Ser627=	coding	Benign
5	138567062	A	C	A138567062C	HSPA9	NM_004134.7(HSPA9):c.818T>G:p.Leu273Ter	coding	Pathogenic
5	138567106	C	T	C138567106T	HSPA9	NM_004134.7(HSPA9):c.774G>A:p.Gln258=	coding	Benign
5	138570987	T	C	T138570987C	HSPA9	NM_004134.7(HSPA9):c.383A>G:p.Tyr128Cys	coding	Pathogenic
5	138570994	G	A	G138570994A	HSPA9	NM_004134.7(HSPA9):c.376C>T:p.Arg126Trp	coding	Pathogenic
5	138575243	G	A	G138575243A	HSPA9	NM_004134.7(HSPA9):c.76C>T:p.His26Tyr	coding	Benign
5	138575298	A	C	A138575298C	HSPA9	NM_004134.7(HSPA9):c.21T>G:p.Ala7=	coding	Benign
5	138812254	A	C	A138812254C	CTNNA1	NM_001903.5(CTNNA1):c.540A>C:p.Leu180=	coding	Benign
5	138812260	T	G	T138812260G	CTNNA1	NM_001903.5(CTNNA1):c.546T>G:p.Pro182=	coding	Benign
5	138824525	T	C	T138824525C	CTNNA1	NM_001903.5(CTNNA1):c.589-5T>C	noncoding	Benign/Likely_benign
5	138824559	G	C	G138824559C	CTNNA1	NM_001903.5(CTNNA1):c.618G>C:p.Gln206His	coding	Benign/Likely_benign
5	138824596	C	T	C138824596T	CTNNA1	NM_001903.5(CTNNA1):c.655C>T:p.Pro219Ser	coding	Benign/Likely_benign
5	138827575	G	A	G138827575A	CTNNA1	NM_001903.5(CTNNA1):c.919G>A:p.Glu307Lys	coding	Pathogenic
5	138827609	T	C	T138827609C	CTNNA1	NM_001903.5(CTNNA1):c.953T>C:p.Leu318Ser	coding	Pathogenic
5	138827619	C	T	C138827619T	CTNNA1	NM_001903.5(CTNNA1):c.963C>T:p.Asp321=	coding	Benign
5	138887513	C	T	C138887513T	CTNNA1	NM_001903.5(CTNNA1):c.1167C>T:p.His389=	coding	Benign
5	138887639	T	G	T138887639G	CTNNA1	NM_001903.5(CTNNA1):c.1293T>G:p.Ile431Met	coding	Pathogenic
5	138904381	T	C	T138904381C	CTNNA1	NM_001903.5(CTNNA1):c.1329T>C:p.Asn443=	coding	Benign/Likely_benign
5	138917757	C	T	C138917757T	CTNNA1	NM_001903.5(CTNNA1):c.1405C>T:p.Leu469=	coding	Benign
5	138925290	C	T	C138925290T	CTNNA1	NM_001903.5(CTNNA1):c.1782C>T:p.Ala594=	coding	Benign/Likely_benign
5	138925353	C	T	C138925353T	CTNNA1	NM_001903.5(CTNNA1):c.1845C>T:p.Ser615=	coding	Benign/Likely_benign
5	138930475	G	A	G138930475A	CTNNA1	NM_001903.5(CTNNA1):c.2013G>A:p.Ala671=	coding	Benign/Likely_benign
5	138930857	G	A	G138930857A	CTNNA1	NM_001903.5(CTNNA1):c.2220G>A:p.Ser740=	coding	Benign
5	138930863	C	G	C138930863G	CTNNA1	NM_001903.5(CTNNA1):c.2226C>G:p.Val742=	coding	Benign
5	138930935	T	C	T138930935C	CTNNA1	NM_001903.5(CTNNA1):c.2298T>C:p.His766=	coding	Benign/Likely_benign
5	138932583	C	T	C138932583T	CTNNA1	NM_001903.5(CTNNA1):c.2304C>T:p.Pro768=	coding	Benign/Likely_benign
5	138932586	C	T	C138932586T	CTNNA1	NM_001903.5(CTNNA1):c.2307C>T:p.Asp769=	coding	Benign/Likely_benign
5	138932622	A	G	A138932622G	CTNNA1	NM_001903.5(CTNNA1):c.2343A>G:p.Gln781=	coding	Benign
5	138933882	C	T	C138933882T	CTNNA1	NM_001903.5(CTNNA1):c.2514C>T:p.Val838=	coding	Benign/Likely_benign
5	138933900	A	G	A138933900G	CTNNA1	NM_001903.5(CTNNA1):c.2532A>G:p.Gln844=	coding	Benign/Likely_benign
5	138947133	A	G	A138947133G	SIL1	NM_022464.5(SIL1):c.1370T>C:p.Leu457Pro	coding	Pathogenic
5	138947152	C	T	C138947152T	SIL1	NM_022464.5(SIL1):c.1351G>A:p.Gly451Ser	coding	Benign/Likely_benign
5	138947191	G	A	G138947191A	SIL1	NM_022464.5(SIL1):c.1312C>T:p.Gln438Ter	coding	Pathogenic
5	138947271	C	T	C138947271T	SIL1	NM_022464.5(SIL1):c.1232G>A:p.Arg411His	coding	Benign/Likely_benign
5	138947482	C	T	C138947482T	SIL1	NM_022464.5(SIL1):c.1030-9G>A	noncoding	Pathogenic
5	138947705	T	C	T138947705C	SIL1	NM_022464.5(SIL1):c.1030-232A>G	noncoding	Benign
5	138951165	A	G	A138951165G	SIL1	NM_022464.5(SIL1):c.1029+6T>C	noncoding	Benign
5	138951170	C	T	C138951170T	SIL1	NM_022464.5(SIL1):c.1029+1G>A	noncoding	Pathogenic
5	138951300	G	A	G138951300A	SIL1	NM_022464.5(SIL1):c.900C>T:p.Phe300=	coding	Benign/Likely_benign
5	138951342	G	A	G138951342A	SIL1	NM_022464.5(SIL1):c.865-7C>T	noncoding	Benign/Likely_benign
5	139021067	G	A	G139021067A	SIL1	NM_022464.5(SIL1):c.767+104C>T	noncoding	Benign
5	139021086	C	A	C139021086A	SIL1	NM_022464.5(SIL1):c.767+85G>T	noncoding	Benign
5	139021522	A	G	A139021522G	SIL1	NM_022464.5(SIL1):c.646-230T>C	noncoding	Benign
5	139026800	C	T	C139026800T	SIL1	NM_022464.5(SIL1):c.645+1G>A	noncoding	Pathogenic
5	139026986	G	A	G139026986A	SIL1	NM_022464.5(SIL1):c.460C>T:p.Gln154Ter	coding	Pathogenic
5	139026998	G	A	G139026998A	SIL1	NM_022464.5(SIL1):c.454-6C>T	noncoding	Benign/Likely_benign
5	139042679	T	G	T139042679G	SIL1	NM_022464.5(SIL1):c.394A>C:p.Lys132Gln	coding	Benign
5	139050960	G	A	G139050960A	SIL1	NM_022464.5(SIL1):c.331C>T:p.Arg111Ter	coding	Pathogenic
5	139051017	G	A	G139051017A	SIL1	NM_022464.5(SIL1):c.274C>T:p.Arg92Trp	coding	Benign/Likely_benign
5	139051170	C	A	C139051170A	SIL1	NM_022464.5(SIL1):c.245-124G>T	noncoding	Benign
5	139121040	T	C	T139121040C	SIL1	NM_022464.5(SIL1):c.239A>G:p.Gln80Arg	coding	Benign/Likely_benign
5	139121090	A	C	A139121090C	SIL1	NM_022464.5(SIL1):c.189T>G:p.Asp63Glu	coding	Benign/Likely_benign
5	139121126	T	C	T139121126C	SIL1	NM_022464.5(SIL1):c.153A>G:p.Thr51=	coding	Benign
5	139121127	G	A	G139121127A	SIL1	NM_022464.5(SIL1):c.152C>T:p.Thr51Ile	coding	Benign/Likely_benign
5	139127849	G	C	G139127849C	SIL1	NM_022464.5(SIL1):c.-6C>G	noncoding	Benign
5	139273887	A	G	A139273887G	MATR3	NM_199189.2(MATR3):c.-643A>G	noncoding	Benign
5	139273920	C	G	C139273920G	MATR3	NM_199189.2(MATR3):c.-610C>G	noncoding	Benign
5	139279060	C	T	C139279060T	MATR3	NM_199189.2(MATR3):c.-247C>T	noncoding	Benign
5	139307373	T	A	T139307373A	MATR3	NM_018834.6(MATR3):c.-43T>A	coding	Benign
5	139307484	G	A	G139307484A	MATR3	NM_018834.6(MATR3):c.69G>A:p.Ala23=	coding	Benign
5	139307669	C	G	C139307669G	MATR3	NM_018834.6(MATR3):c.254C>G:p.Ser85Cys	coding	Pathogenic
5	139307706	A	G	A139307706G	MATR3	NM_018834.6(MATR3):c.291A>G:p.Leu97=	coding	Benign
5	139307759	T	G	T139307759G	MATR3	NM_018834.6(MATR3):c.344T>G:p.Phe115Cys	coding	Pathogenic
5	139307875	C	T	C139307875T	MATR3	NM_018834.6(MATR3):c.460C>T:p.Pro154Ser	coding	Pathogenic
5	139317048	T	A	T139317048A	MATR3	NM_018834.6(MATR3):c.1130-5T>A	noncoding	Benign
5	139317591	G	A	G139317591A	MATR3	NM_018834.6(MATR3):c.1183-5G>A	noncoding	Benign
5	139318946	C	T	C139318946T	MATR3	NM_018834.6(MATR3):c.1347C>T:p.Ala449=	coding	Benign
5	139319507	A	G	A139319507G	MATR3	NM_018834.6(MATR3):c.1602+6A>G	noncoding	Benign/Likely_benign
5	139322683	A	G	A139322683G	MATR3	NM_018834.6(MATR3):c.1864A>G:p.Thr622Ala	coding	Pathogenic
5	139322712	C	T	C139322712T	MATR3	NM_018834.6(MATR3):c.1893C>T:p.Ser631=	coding	Benign
5	139325482	T	C	T139325482C	MATR3	NM_018834.6(MATR3):c.2191T>C:p.Leu731=	coding	Benign
5	139325562	T	C	T139325562C	MATR3	NM_018834.6(MATR3):c.2271T>C:p.Asp757=	coding	Benign/Likely_benign
5	139325574	C	T	C139325574T	MATR3	NM_018834.6(MATR3):c.2283C>T:p.Asn761=	coding	Benign
5	139325651	A	G	A139325651G	MATR3	NM_018834.6(MATR3):c.2360A>G:p.Asn787Ser	coding	Benign/Likely_benign
5	139329331	C	A	C139329331A	MATR3	NM_018834.6(MATR3):c.2494-14C>A	noncoding	Benign
5	139329492	C	G	C139329492G	MATR3	NM_018834.6(MATR3):c.*97C>G	noncoding	Benign
5	139329572	A	G	A139329572G	MATR3	NM_018834.6(MATR3):c.*177A>G	noncoding	Benign
5	139329670	C	T	C139329670T	MATR3	NM_018834.6(MATR3):c.*275C>T	noncoding	Benign
5	139329700	A	C	A139329700C	MATR3	NM_018834.6(MATR3):c.*305A>C	noncoding	Benign
5	139329708	A	G	A139329708G	MATR3	NM_018834.6(MATR3):c.*313A>G	noncoding	Benign
5	139329801	A	G	A139329801G	MATR3	NM_018834.6(MATR3):c.*406A>G	noncoding	Benign
5	139329891	C	T	C139329891T	MATR3	NM_018834.6(MATR3):c.*496C>T	noncoding	Benign
5	139330035	A	G	A139330035G	MATR3	NM_018834.6(MATR3):c.*640A>G	noncoding	Benign
5	139330067	G	A	G139330067A	MATR3	NM_018834.6(MATR3):c.*672G>A	noncoding	Benign
5	139330103	T	C	T139330103C	MATR3	NM_018834.6(MATR3):c.*708T>C	noncoding	Benign
5	139330142	G	C	G139330142C	MATR3	NM_018834.6(MATR3):c.*747G>C	noncoding	Benign
5	139330164	G	A	G139330164A	MATR3	NM_018834.6(MATR3):c.*769G>A	noncoding	Benign
5	139330471	T	C	T139330471C	MATR3	NM_018834.6(MATR3):c.*1076T>C	noncoding	Benign
5	139330482	G	C	G139330482C	MATR3	NM_018834.6(MATR3):c.*1087G>C	noncoding	Benign
5	139330654	G	C	G139330654C	MATR3	NM_018834.6(MATR3):c.*1259G>C	noncoding	Benign
5	139330673	T	C	T139330673C	MATR3	NM_018834.6(MATR3):c.*1278T>C	noncoding	Benign
5	139330683	T	G	T139330683G	MATR3	NM_018834.6(MATR3):c.*1288T>G	noncoding	Benign
5	139330789	G	A	G139330789A	MATR3	NM_018834.6(MATR3):c.*1394G>A	noncoding	Benign
5	139331162	C	T	C139331162T	MATR3	NM_018834.6(MATR3):c.*1767C>T	noncoding	Benign
5	139331449	T	A	T139331449A	MATR3	NM_018834.6(MATR3):c.*2054T>A	noncoding	Benign
5	139331569	C	T	C139331569T	MATR3	NM_018834.6(MATR3):c.*2174C>T	noncoding	Benign
5	139331589	T	A	T139331589A	MATR3	NM_018834.6(MATR3):c.*2194T>A	noncoding	Benign
5	139331595	C	T	C139331595T	MATR3	NM_018834.6(MATR3):c.*2200C>T	noncoding	Benign
5	139372262	G	A	G139372262A	SLC23A1	NM_005847.5(SLC23A1):c.1550-9C>T	noncoding	Benign
5	139378681	G	C	G139378681C	SLC23A1	NM_005847.5(SLC23A1):c.1077C>G:p.Gly359=	coding	Benign
5	139379730	A	G	A139379730G	SLC23A1	NM_005847.5(SLC23A1):c.873T>C:p.Asp291=	coding	Benign
5	139379831	T	C	T139379831C	SLC23A1	NM_005847.5(SLC23A1):c.772A>G:p.Met258Val	coding	Benign
5	139383232	C	T	C139383232T	SLC23A1	NM_005847.5(SLC23A1):c.22G>A:p.Glu8Lys	coding	Benign
5	139389807	A	G	A139389807G	MZB1	NM_016459.4(MZB1):c.50T>C:p.Ile17Thr	coding	Benign
5	139392718	G	A	G139392718A	PROB1	NM_001161546.2(PROB1):c.2364C>T:p.Arg788=	coding	Benign
5	139393079	G	A	G139393079A	PROB1	NM_001161546.2(PROB1):c.2003C>T:p.Pro668Leu	coding	Benign
5	139393565	G	A	G139393565A	PROB1	NM_001161546.2(PROB1):c.1517C>T:p.Ala506Val	coding	Benign
5	139393575	G	T	G139393575T	PROB1	NM_001161546.2(PROB1):c.1507C>A:p.Pro503Thr	coding	Benign
5	139393607	G	C	G139393607C	PROB1	NM_001161546.2(PROB1):c.1475C>G:p.Pro492Arg	coding	Benign
5	139394302	G	C	G139394302C	PROB1	NM_001161546.2(PROB1):c.780C>G:p.Ser260Arg	coding	Benign
5	139394955	G	C	G139394955C	PROB1	NM_001161546.2(PROB1):c.127C>G:p.Pro43Ala	coding	Benign
5	139476277	C	A	C139476277A	STING1	NM_198282.4(STING1):c.1124G>T:p.Arg375Leu	coding	Benign
5	139477338	C	T	C139477338T	STING1	NM_198282.4(STING1):c.937G>A:p.Ala313Thr	coding	Benign
5	139477433	C	T	C139477433T	STING1	NM_198282.4(STING1):c.842G>A:p.Arg281Gln	coding	Pathogenic
5	139477513	C	T	C139477513T	STING1	NM_198282.4(STING1):c.762G>A:p.Ala254=	coding	Benign
5	139478334	T	C	T139478334C	STING1	NM_198282.4(STING1):c.695A>G:p.His232Arg	coding	Benign
5	139478370	C	T	C139478370T	STING1	NM_198282.4(STING1):c.659G>A:p.Arg220His	coding	Benign
5	139478449	C	A	C139478449A	STING1	NM_198282.4(STING1):c.580G>T:p.Val194Leu	coding	Benign
5	139480800	C	G	C139480800G	STING1	NM_198282.4(STING1):c.510G>C:p.Leu170=	coding	Benign
5	139480847	C	T	C139480847T	STING1	NM_198282.4(STING1):c.463G>A:p.Val155Met	coding	Pathogenic
5	139480849	T	C	T139480849C	STING1	NM_198282.4(STING1):c.461A>G:p.Asn154Ser	coding	Pathogenic
5	139480871	C	G	C139480871G	STING1	NM_198282.4(STING1):c.439G>C:p.Val147Leu	coding	Pathogenic
5	139481194	G	T	G139481194T	STING1	NM_198282.4(STING1):c.376C>A:p.Leu126Ile	coding	Benign
5	139481222	G	C	G139481222C	STING1	NM_198282.4(STING1):c.348C>G:p.Pro116=	coding	Benign
5	139481561	C	G	C139481561G	STING1	NM_198282.4(STING1):c.144G>C:p.Val48=	coding	Benign
5	139481672	C	T	C139481672T	STING1	NM_198282.4(STING1):c.33G>A:p.Pro11=	coding	Benign
5	139809500	C	T	C139809500T	PSD2	NM_032289.4(PSD2):c.60C>T:p.Pro20=	coding	Benign
5	139809526	G	A	G139809526A	PSD2	NM_032289.4(PSD2):c.86G>A:p.Gly29Glu	coding	Benign
5	139809532	G	A	G139809532A	PSD2	NM_032289.4(PSD2):c.92G>A:p.Arg31Gln	coding	Benign
5	140114182	A	G	A140114182G	PURA	NM_005859.5(PURA):c.1A>G:p.Met1Val	coding	Pathogenic
5	140114191	C	T	C140114191T	PURA	NM_005859.5(PURA):c.10C>T:p.Arg4Ter	coding	Pathogenic
5	140114258	C	A	C140114258A	PURA	NM_005859.5(PURA):c.77C>A:p.Ser26Ter	coding	Pathogenic
5	140114344	C	T	C140114344T	PURA	NM_005859.5(PURA):c.163C>T:p.Gln55Ter	coding	Pathogenic
5	140114356	C	T	C140114356T	PURA	NM_005859.5(PURA):c.175C>T:p.Gln59Ter	coding	Pathogenic
5	140114359	G	T	G140114359T	PURA	NM_005859.5(PURA):c.178G>T:p.Glu60Ter	coding	Pathogenic
5	140114386	C	T	C140114386T	PURA	NM_005859.5(PURA):c.205C>T:p.Gln69Ter	coding	Pathogenic
5	140114446	G	C	G140114446C	PURA	NM_005859.5(PURA):c.265G>C:p.Ala89Pro	coding	Pathogenic
5	140114470	A	G	A140114470G	PURA	NM_005859.5(PURA):c.289A>G:p.Lys97Glu	coding	Pathogenic
5	140114486	T	G	T140114486G	PURA	NM_005859.5(PURA):c.305T>G:p.Leu102Arg	coding	Pathogenic
5	140114502	C	T	C140114502T	PURA	NM_005859.5(PURA):c.321C>T:p.Ala107=	coding	Benign/Likely_benign
5	140114506	G	T	G140114506T	PURA	NM_005859.5(PURA):c.325G>T:p.Glu109Ter	coding	Pathogenic
5	140114520	C	G	C140114520G	PURA	NM_005859.5(PURA):c.339C>G:p.Tyr113Ter	coding	Pathogenic
5	140114544	C	G	C140114544G	PURA	NM_005859.5(PURA):c.363C>G:p.Tyr121Ter	coding	Pathogenic
5	140114548	C	T	C140114548T	PURA	NM_005859.5(PURA):c.367C>T:p.Gln123Ter	coding	Pathogenic
5	140114631	C	G	C140114631G	PURA	NM_005859.5(PURA):c.450C>G:p.Arg150=	coding	Benign/Likely_benign
5	140114632	G	T	G140114632T	PURA	NM_005859.5(PURA):c.451G>T:p.Glu151Ter	coding	Pathogenic
5	140114639	G	C	G140114639C	PURA	NM_005859.5(PURA):c.458G>C:p.Arg153Pro	coding	Pathogenic
5	140114651	T	A	T140114651A	PURA	NM_005859.5(PURA):c.470T>A:p.Met157Lys	coding	Pathogenic
5	140114668	C	T	C140114668T	PURA	NM_005859.5(PURA):c.487C>T:p.Gln163Ter	coding	Pathogenic
5	140114687	G	C	G140114687C	PURA	NM_005859.5(PURA):c.506G>C:p.Arg169Pro	coding	Pathogenic
5	140114737	C	T	C140114737T	PURA	NM_005859.5(PURA):c.556C>T:p.Gln186Ter	coding	Pathogenic
5	140114797	A	T	A140114797T	PURA	NM_005859.5(PURA):c.616A>T:p.Ile206Phe	coding	Pathogenic
5	140114821	G	T	G140114821T	PURA	NM_005859.5(PURA):c.640G>T:p.Glu214Ter	coding	Pathogenic/Likely_pathogenic
5	140114866	A	T	A140114866T	PURA	NM_005859.5(PURA):c.685A>T:p.Lys229Ter	coding	Pathogenic
5	140114873	T	C	T140114873C	PURA	NM_005859.5(PURA):c.692T>C:p.Phe231Ser	coding	Pathogenic
5	140114901	C	G	C140114901G	PURA	NM_005859.5(PURA):c.720C>G:p.Tyr240Ter	coding	Pathogenic
5	140114914	C	T	C140114914T	PURA	NM_005859.5(PURA):c.733C>T:p.Arg245Ter	coding	Pathogenic
5	140114915	G	C	G140114915C	PURA	NM_005859.5(PURA):c.734G>C:p.Arg245Pro	coding	Pathogenic
5	140114964	C	G	C140114964G	PURA	NM_005859.5(PURA):c.783C>G:p.Tyr261Ter	coding	Pathogenic
5	140363037	G	A	G140363037A	SLC4A9	NM_031467.3(SLC4A9):c.933G>A:p.Pro311=	coding	Benign
5	140364634	G	C	G140364634C	SLC4A9	NM_031467.3(SLC4A9):c.1651+9G>C	noncoding	Benign
5	140366031	C	T	C140366031T	SLC4A9	NM_031467.3(SLC4A9):c.1899+9C>T	noncoding	Benign
5	140537517	C	G	C140537517G	ANKHD1	NM_017747.3(ANKHD1):c.7156C>G:p.Pro2386Ala	coding	Benign
5	140550722	G	A	G140550722A	SRA1	NM_001035235.3(SRA1):c.689C>T:p.Pro230Leu	coding	Benign
5	140557250	G	A	G140557250A	SRA1	NM_001035235.3(SRA1):c.84C>T:p.Asn28=	coding	Benign
5	140632282	C	T	C140632282T	CD14	NM_000591.4(CD14):c.702G>A:p.Met234Ile	coding	Benign
5	140632546	G	A	G140632546A	CD14	NM_000591.4(CD14):c.438C>T:p.Ser146=	coding	Benign
5	140645656	G	A	G140645656A	NDUFA2	NM_002488.4(NDUFA2):c.231C>T:p.Val77=	coding	Benign
5	140645899	G	A	G140645899A	NDUFA2	NM_002488.4(NDUFA2):c.209-221C>T	noncoding	Benign
5	140646942	A	T	A140646942T	NDUFA2	NM_002488.4(NDUFA2):c.208+314T>A	noncoding	Benign
5	140647251	C	T	C140647251T	NDUFA2	NM_002488.4(NDUFA2):c.208+5G>A	noncoding	Pathogenic
5	140647294	T	G	T140647294G	NDUFA2	NM_002488.5(NDUFA2):c.170A>C:p.Glu57Ala	coding	Pathogenic
5	140647330	T	G	T140647330G	NDUFA2	NM_002488.4(NDUFA2):c.134A>C:p.Lys45Thr	coding	Pathogenic
5	140647335	C	T	C140647335T	NDUFA2	NM_002488.4(NDUFA2):c.129G>A:p.Glu43=	coding	Benign
5	140647631	T	C	T140647631C	NDUFA2	NM_002488.4(NDUFA2):c.-48A>G	noncoding	Benign
5	140647719	T	C	T140647719C	NDUFA2	NM_002488.4(NDUFA2):c.-136A>G	noncoding	Benign
5	140648481	C	T	C140648481T	IK	NM_006083.4(IK):c.27C>T:p.Phe9=	coding	Benign
5	140662219	C	T	C140662219T	IK	NM_006083.4(IK):c.1646+6C>T	noncoding	Benign
5	140674672	C	T	C140674672T	HARS1	NM_002109.6(HARS1):c.1458+7G>A	noncoding	Benign
5	140675067	G	C	G140675067C	HARS1	NM_002109.6(HARS1):c.1261C>G:p.Leu421Val	coding	Benign
5	140675132	G	A	G140675132A	HARS1	NM_002109.6(HARS1):c.1196C>T:p.Ala399Val	coding	Benign
5	140676721	T	C	T140676721C	HARS1	NM_002109.6(HARS1):c.1127A>G:p.Lys376Arg	coding	Benign/Likely_benign
5	140676758	C	A	C140676758A	HARS1	NM_002109.6(HARS1):c.1090G>T:p.Asp364Tyr	coding	Pathogenic
5	140677037	G	A	G140677037A	HARS1	NM_002109.6(HARS1):c.903C>T:p.Asp301=	coding	Benign
5	140677190	A	C	A140677190C	HARS1	NM_002109.6(HARS1):c.824-74T>G	noncoding	Benign
5	140677631	G	A	G140677631A	HARS1	NM_002109.6(HARS1):c.729+24C>T	noncoding	Benign
5	140677922	C	A	C140677922A	HARS1	NM_002109.6(HARS1):c.616G>T:p.Asp206Tyr	coding	Pathogenic
5	140677924	C	T	C140677924T	HARS1	NM_002109.6(HARS1):c.614G>A:p.Gly205Asp	coding	Benign
5	140677950	G	A	G140677950A	HARS1	NM_002109.6(HARS1):c.588C>T:p.Cys196=	coding	Benign
5	140678013	A	C	A140678013C	HARS1	NM_002109.6(HARS1):c.525T>G:p.Asp175Glu	coding	Pathogenic
5	140679060	A	C	A140679060C	HARS1	NM_002109.6(HARS1):c.464T>G:p.Val155Gly	coding	Pathogenic
5	140679123	G	T	G140679123T	HARS1	NM_002109.6(HARS1):c.401C>A:p.Pro134His	coding	Pathogenic
5	140679789	G	A	G140679789A	HARS1	NM_002109.6(HARS1):c.395C>T:p.Thr132Ile	coding	Pathogenic
5	140683166	G	A	G140683166A	HARS1	NM_002109.6(HARS1):c.234C>T:p.Asp78=	coding	Benign/Likely_benign
5	140691265	G	T	G140691265T	HARS1	NM_002109.6(HARS1):c.40C>A:p.Gln14Lys	coding	Benign
5	140691291	G	T	G140691291T	HARS1	NM_002109.6(HARS1):c.14C>A:p.Ala5Glu	coding	Benign/Likely_benign
5	140694205	T	C	T140694205C	HARS2	NM_012208.4(HARS2):c.324T>C:p.Tyr108=	coding	Benign/Likely_benign
5	140694298	G	A	G140694298A	HARS2	NM_012208.4(HARS2):c.399+18G>A	noncoding	Benign
5	140695220	C	T	C140695220T	HARS2	NM_012208.4(HARS2):c.400-288C>T	noncoding	Benign
5	140695810	C	G	C140695810G	HARS2	NM_012208.4(HARS2):c.598C>G:p.Leu200Val	coding	Pathogenic/Likely_pathogenic
5	140695846	G	A	G140695846A	HARS2	NM_012208.4(HARS2):c.633+1G>A	coding	Pathogenic
5	140695889	C	T	C140695889T	HARS2	NM_012208.4(HARS2):c.633+44C>T	noncoding	Benign
5	140696116	G	A	G140696116A	HARS2	NM_012208.4(HARS2):c.647G>A:p.Arg216Gln	coding	Pathogenic
5	140696984	C	T	C140696984T	HARS2	NM_012208.4(HARS2):c.868C>T:p.Leu290=	coding	Benign
5	140697828	A	G	A140697828G	HARS2	NM_012208.4(HARS2):c.1315-104A>G	noncoding	Benign
5	140698114	A	G	A140698114G	HARS2	NM_012208.4(HARS2):c.1461+36A>G	noncoding	Benign
5	140786647	G	A	G140786647A	PCDHA1	NM_018900.4(PCDHA1):c.357G>A:p.Val119=	coding	Benign
5	140803234	G	T	G140803234T	PCDHA3	NM_018906.3(PCDHA3):c.2037G>T:p.Ser679=	coding	Benign
5	140982540	C	G	C140982540G	PCDHA9	NM_031857.2(PCDHA9):c.2519C>G:p.Pro840Arg	coding	Benign
5	141096110	C	A	C141096110A	PCDHB2	NM_018936.4(PCDHB2):c.1320C>A:p.Thr440=	coding	Benign
5	141096396	G	A	G141096396A	PCDHB2	NM_018936.4(PCDHB2):c.1606G>A:p.Ala536Thr	coding	Benign
5	141097069	G	A	G141097069A	PCDHB2	NM_018936.4(PCDHB2):c.2279G>A:p.Gly760Asp	coding	Benign
5	141097070	C	A	C141097070A	PCDHB2	NM_018936.4(PCDHB2):c.2280C>A:p.Gly760=	coding	Benign
5	141122128	G	T	G141122128T	PCDHB4	NM_018938.4(PCDHB4):c.130G>T:p.Val44Leu	coding	Benign
5	141122177	C	T	C141122177T	PCDHB4	NM_018938.4(PCDHB4):c.179C>T:p.Ser60Phe	coding	Benign
5	141122501	A	G	A141122501G	PCDHB4	NM_018938.4(PCDHB4):c.503A>G:p.Lys168Arg	coding	Benign
5	141122851	G	C	G141122851C	PCDHB4	NM_018938.4(PCDHB4):c.853G>C:p.Asp285His	coding	Benign
5	141123151	C	T	C141123151T	PCDHB4	NM_018938.4(PCDHB4):c.1153C>T:p.Pro385Ser	coding	Benign
5	141123337	G	C	G141123337C	PCDHB4	NM_018938.4(PCDHB4):c.1339G>C:p.Ala447Pro	coding	Benign
5	141123338	C	A	C141123338A	PCDHB4	NM_018938.4(PCDHB4):c.1340C>A:p.Ala447Asp	coding	Benign
5	141123435	G	A	G141123435A	PCDHB4	NM_018938.4(PCDHB4):c.1437G>A:p.Ser479=	coding	Benign
5	141123570	G	A	G141123570A	PCDHB4	NM_018938.4(PCDHB4):c.1572G>A:p.Gln524=	coding	Benign
5	141123655	A	G	A141123655G	PCDHB4	NM_018938.4(PCDHB4):c.1657A>G:p.Thr553Ala	coding	Benign
5	141123987	T	C	T141123987C	PCDHB4	NM_018938.4(PCDHB4):c.1989T>C:p.Asp663=	coding	Benign
5	141174729	G	T	G141174729T	PCDHB7	NM_018940.4(PCDHB7):c.1894G>T:p.Glu632Ter	coding	Benign
5	141178198	T	C	T141178198C	PCDHB8	NM_019120.5(PCDHB8):c.164T>C:p.Leu55Pro	coding	Benign
5	141179769	C	T	C141179769T	PCDHB8	NM_019120.5(PCDHB8):c.1735C>T:p.Arg579Trp	coding	Benign
5	141179951	G	C	G141179951C	PCDHB8	NM_019120.5(PCDHB8):c.1917G>C:p.Gln639His	coding	Benign
5	141180310	G	T	G141180310T	PCDHB8	NM_019120.5(PCDHB8):c.2276G>T:p.Gly759Val	coding	Benign
5	141180333	C	T	C141180333T	PCDHB8	NM_019120.5(PCDHB8):c.2299C>T:p.Leu767Phe	coding	Benign
5	141201358	C	G	C141201358G	PCDHB11	NM_018931.3(PCDHB11):c.1584C>G:p.Asp528Glu	coding	Benign
5	141408401	C	A	C141408401A	PCDHGB6	NM_018915.4(PCDHGA2):c.2424+67006C>A	coding	Benign
5	141413826	C	T	C141413826T	PCDHGA10	NM_018915.4(PCDHGA2):c.2424+72431C>T	coding	Benign
5	141415009	C	T	C141415009T	PCDHGA10	NM_018915.4(PCDHGA2):c.2424+73614C>T	coding	Benign
5	141478294	A	G	A141478294G	PCDHGC3	NM_002588.4(PCDHGC3):c.2178A>G:p.Leu726=	coding	Benign
5	141490413	G	A	G141490413A	PCDHGC5	NM_018929.3(PCDHGC5):c.1173G>A:p.Pro391=	coding	Benign
5	141490647	G	A	G141490647A	PCDHGC5	NM_018929.3(PCDHGC5):c.1407G>A:p.Pro469=	coding	Benign
5	141491205	A	G	A141491205G	PCDHGC5	NM_018929.3(PCDHGC5):c.1965A>G:p.Ser655=	coding	Benign
5	141491253	T	C	T141491253C	PCDHGC5	NM_018929.3(PCDHGC5):c.2013T>C:p.Pro671=	coding	Benign
5	141491361	C	A	C141491361A	PCDHGC5	NM_018929.3(PCDHGC5):c.2121C>A:p.Val707=	coding	Benign
5	141511014	A	G	A141511014G	PCDHGC3	NM_002588.4(PCDHGC3):c.2646A>G:p.Gly882=	coding	Benign
5	141515244	G	A	G141515244A	DIAPH1	NM_005219.5(DIAPH1):c.*1607C>T	noncoding	Benign
5	141515254	C	T	C141515254T	DIAPH1	NM_005219.5(DIAPH1):c.*1597G>A	noncoding	Benign
5	141515487	A	G	A141515487G	DIAPH1	NM_005219.5(DIAPH1):c.*1364T>C	noncoding	Benign
5	141515504	G	C	G141515504C	DIAPH1	NM_005219.5(DIAPH1):c.*1347C>G	noncoding	Benign
5	141515547	T	C	T141515547C	DIAPH1	NM_005219.5(DIAPH1):c.*1304A>G	noncoding	Benign
5	141515810	C	T	C141515810T	DIAPH1	NM_005219.5(DIAPH1):c.*1041G>A	noncoding	Benign
5	141515918	A	T	A141515918T	DIAPH1	NM_005219.5(DIAPH1):c.*933T>A	noncoding	Benign
5	141516233	C	G	C141516233G	DIAPH1	NM_005219.5(DIAPH1):c.*618G>C	noncoding	Benign
5	141516905	C	T	C141516905T	DIAPH1	NM_005219.5(DIAPH1):c.3765G>A:p.Glu1255=	coding	Benign
5	141524142	C	A	C141524142A	DIAPH1	NM_005219.5(DIAPH1):c.3661+1G>T	noncoding	Pathogenic
5	141524167	G	A	G141524167A	DIAPH1	NM_005219.5(DIAPH1):c.3637C>T:p.Arg1213Ter	coding	Pathogenic
5	141524225	G	A	G141524225A	DIAPH1	NM_005219.5(DIAPH1):c.3579C>T:p.Gly1193=	coding	Benign
5	141527619	A	C	A141527619C	DIAPH1	NM_005219.5(DIAPH1):c.3227T>G:p.Phe1076Cys	coding	Benign/Likely_benign
5	141528456	G	A	G141528456A	DIAPH1	NM_005219.5(DIAPH1):c.3145C>T:p.Arg1049Ter	coding	Pathogenic
5	141528926	G	A	G141528926A	DIAPH1	NM_005219.5(DIAPH1):c.2794C>T:p.Arg932Ter	coding	Pathogenic
5	141534391	T	G	T141534391G	DIAPH1	NM_005219.5(DIAPH1):c.2525A>C:p.Gln842Pro	coding	Benign
5	141573518	G	A	G141573518A	DIAPH1	NM_005219.5(DIAPH1):c.2332C>T:p.Gln778Ter	coding	Pathogenic/Likely_pathogenic
5	141573818	G	A	G141573818A	DIAPH1	NM_005219.5(DIAPH1):c.2032C>T:p.Pro678Ser	coding	Benign/Likely_benign
5	141573865	C	T	C141573865T	DIAPH1	NM_005219.5(DIAPH1):c.1985G>A:p.Gly662Asp	coding	Benign/Likely_benign
5	141573886	G	C	G141573886C	DIAPH1	NM_005219.5(DIAPH1):c.1964C>G:p.Pro655Arg	coding	Benign
5	141574191	C	T	C141574191T	DIAPH1	NM_005219.5(DIAPH1):c.1659G>A:p.Lys553=	coding	Benign/Likely_benign
5	141575059	G	A	G141575059A	DIAPH1	NM_005219.5(DIAPH1):c.1549C>T:p.Gln517Ter	coding	Pathogenic
5	141575085	T	C	T141575085C	DIAPH1	NM_005219.5(DIAPH1):c.1523A>G:p.Asp508Gly	coding	Benign/Likely_benign
5	141576210	C	T	C141576210T	DIAPH1	NM_005219.5(DIAPH1):c.1461+20G>A	noncoding	Benign
5	141576284	A	G	A141576284G	DIAPH1	NM_005219.5(DIAPH1):c.1407T>C:p.Ile469=	coding	Benign/Likely_benign
5	141579130	C	T	C141579130T	DIAPH1	NM_005219.5(DIAPH1):c.891G>A:p.Pro297=	coding	Benign
5	141582369	G	T	G141582369T	DIAPH1	NM_005219.5(DIAPH1):c.627C>A:p.Tyr209Ter	coding	Pathogenic
5	141584136	G	A	G141584136A	DIAPH1	NM_005219.5(DIAPH1):c.390C>T:p.Tyr130=	coding	Benign
5	141587142	G	A	G141587142A	DIAPH1	NM_005219.5(DIAPH1):c.200C>T:p.Ala67Val	coding	Benign/Likely_benign
5	141618784	G	A	G141618784A	DIAPH1	NM_005219.5(DIAPH1):c.117+14C>T	noncoding	Benign
5	141618789	G	A	G141618789A	DIAPH1	NM_005219.5(DIAPH1):c.117+9C>T	noncoding	Benign
5	141621523	T	C	T141621523C	HDAC3	NM_003883.4(HDAC3):c.1232A>G:p.Asn411Ser	coding	Benign
5	141626026	C	T	C141626026T	HDAC3	NM_003883.4(HDAC3):c.966G>A:p.Glu322=	coding	Benign
5	141869429	G	A	G141869429A	PCDH1	NM_032420.4(PCDH1):c.43C>T:p.Leu15Phe	coding	Benign
5	141949494	T	G	T141949494G	PCDH12	NM_016580.3(PCDH12):c.3068A>C:p.Glu1023Ala	coding	Benign
5	141951533	G	A	G141951533A	PCDH12	NM_016580.3(PCDH12):c.2938C>T:p.His980Tyr	coding	Benign
5	141955156	G	A	G141955156A	PCDH12	NM_016580.3(PCDH12):c.2696C>T:p.Ala899Val	coding	Benign
5	141955217	G	C	G141955217C	PCDH12	NM_016580.3(PCDH12):c.2635C>G:p.Pro879Ala	coding	Benign
5	141955273	C	T	C141955273T	PCDH12	NM_016580.3(PCDH12):c.2579G>A:p.Arg860Gln	coding	Benign
5	141955337	G	A	G141955337A	PCDH12	NM_016580.3(PCDH12):c.2515C>T:p.Arg839Ter	coding	Pathogenic
5	141955553	G	A	G141955553A	PCDH12	NM_016580.3(PCDH12):c.2299C>T:p.Gln767Ter	coding	Pathogenic
5	141956109	C	G	C141956109G	PCDH12	NM_016580.3(PCDH12):c.1743G>C:p.Val581=	coding	Benign
5	141956699	G	T	G141956699T	PCDH12	NM_016580.3(PCDH12):c.1153C>A:p.His385Asn	coding	Benign
5	141956847	A	G	A141956847G	PCDH12	NM_016580.3(PCDH12):c.1005T>C:p.His335=	coding	Benign
5	141956930	G	A	G141956930A	PCDH12	NM_016580.3(PCDH12):c.922C>T:p.Arg308Ter	coding	Pathogenic
5	141957293	C	T	C141957293T	PCDH12	NM_016580.3(PCDH12):c.559G>A:p.Gly187Ser	coding	Benign
5	141957390	G	A	G141957390A	PCDH12	NM_016580.3(PCDH12):c.462C>T:p.Ile154=	coding	Benign
5	141980347	T	G	T141980347G	RNF14	NM_004290.5(RNF14):c.1059T>G:p.Thr353=	coding	Benign
5	142140592	T	C	T142140592C	NDFIP1	NM_030571.4(NDFIP1):c.525T>C:p.Asp175=	coding	Benign
5	142314268	C	T	C142314268T	SPRY4	NM_030964.4(SPRY4):c.910G>A:p.Val304Ile	coding	Benign
5	142314878	C	T	C142314878T	SPRY4	NM_030964.4(SPRY4):c.300G>A:p.Thr100=	coding	Benign
5	142315063	C	T	C142315063T	SPRY4	NM_030964.4(SPRY4):c.115G>A:p.Val39Ile	coding	Pathogenic
5	142614066	C	T	C142614066T	FGF1	NM_000800.5(FGF1):c.62G>A:p.Gly21Glu	coding	Benign
5	142879388	C	T	C142879388T	ARHGAP26	NM_001135608.3(ARHGAP26):c.327C>T:p.Ser109=	coding	Benign
5	142901928	A	G	A142901928G	ARHGAP26	NM_001135608.3(ARHGAP26):c.598-7A>G	noncoding	Benign
5	143041855	A	G	A143041855G	ARHGAP26	NM_001135608.3(ARHGAP26):c.1250A>G:p.Asn417Ser	coding	Pathogenic
5	143214060	G	A	G143214060A	ARHGAP26	NM_001135608.3(ARHGAP26):c.2163G>A:p.Ser721=	coding	Benign
5	143278056	T	C	T143278056C	NR3C1	NM_000176.3(NR3C1):c.*3833A>G	noncoding	Benign
5	143278591	C	A	C143278591A	NR3C1	NM_000176.3(NR3C1):c.*3298G>T	noncoding	Benign
5	143279701	T	C	T143279701C	NR3C1	NM_000176.3(NR3C1):c.*2188A>G	coding	Benign
5	143281905	A	G	A143281905G	NR3C1	NM_000176.3(NR3C1):c.2318T>C:p.Leu773Pro	coding	Pathogenic
5	143281925	A	G	A143281925G	NR3C1	NM_000176.3(NR3C1):c.2298T>C:p.Asn766=	coding	Benign
5	143281964	T	A	T143281964A	NR3C1	NM_000176.3(NR3C1):c.2259A>T:p.Leu753Phe	coding	Pathogenic
5	143281973	G	A	G143281973A	NR3C1	NM_000176.3(NR3C1):c.2250C>T:p.Pro750=	coding	Benign/Likely_benign
5	143281982	A	C	A143281982C	NR3C1	NM_000176.3(NR3C1):c.2241T>G:p.Ile747Met	coding	Pathogenic
5	143282014	A	G	A143282014G	NR3C1	NM_000176.3(NR3C1):c.2209T>C:p.Phe737Leu	coding	Pathogenic
5	143282050	G	C	G143282050C	NR3C1	NM_000176.3(NR3C1):c.2182-9C>G	noncoding	Benign/Likely_benign
5	143282714	C	T	C143282714T	NR3C1	NM_000176.3(NR3C1):c.2035G>A:p.Gly679Ser	coding	Pathogenic
5	143282715	G	A	G143282715A	NR3C1	NM_000176.3(NR3C1):c.2034C>T:p.Asp678=	coding	Benign
5	143295561	T	A	T143295561A	NR3C1	NM_000176.3(NR3C1):c.1922A>T:p.Asp641Val	coding	Pathogenic
5	143298796	G	A	G143298796A	NR3C1	NM_000176.3(NR3C1):c.1764C>T:p.His588=	coding	Benign
5	143300520	A	G	A143300520G	NR3C1	NM_000176.3(NR3C1):c.1712T>C:p.Val571Ala	coding	Pathogenic
5	143300556	A	T	A143300556T	NR3C1	NM_000176.3(NR3C1):c.1676T>A:p.Ile559Asn	coding	Pathogenic
5	143300662	T	C	T143300662C	NR3C1	NM_000176.3(NR3C1):c.1570A>G:p.Thr524Ala	coding	Benign/Likely_benign
5	143310135	C	T	C143310135T	NR3C1	NM_000176.3(NR3C1):c.1430G>A:p.Arg477His	coding	Pathogenic
5	143314111	T	C	T143314111C	NR3C1	NM_000176.3(NR3C1):c.1242A>G:p.Thr414=	coding	Benign/Likely_benign
5	143399943	T	C	T143399943C	NR3C1	NM_000176.3(NR3C1):c.897A>G:p.Thr299=	coding	Benign/Likely_benign
5	143399961	C	T	C143399961T	NR3C1	NM_000176.3(NR3C1):c.879G>A:p.Lys293=	coding	Benign/Likely_benign
5	143400647	A	C	A143400647C	NR3C1	NM_000176.3(NR3C1):c.193T>G:p.Phe65Val	coding	Benign/Likely_benign
5	143400774	C	T	C143400774T	NR3C1	NM_000176.3(NR3C1):c.66G>A:p.Glu22=	coding	Benign/Likely_benign
5	145859901	G	A	G145859901A	GRXCR2	NM_001080516.1(GRXCR2):c.579C>T:p.Pro193=	coding	Benign
5	145866555	G	A	G145866555A	GRXCR2	NM_001080516.1(GRXCR2):c.510C>T:p.His170=	coding	Benign
5	145872676	C	T	C145872676T	GRXCR2	NM_001080516.1(GRXCR2):c.293G>A:p.Gly98Asp	coding	Benign
5	145872787	A	C	A145872787C	GRXCR2	NM_001080516.1(GRXCR2):c.182T>G:p.Met61Arg	coding	Benign
5	145872814	C	T	C145872814T	GRXCR2	NM_001080516.1(GRXCR2):c.155G>A:p.Ser52Asn	coding	Benign
5	146114301	T	C	T146114301C	LARS1	NM_020117.11(LARS1):c.3336A>G:p.Lys1112=	coding	Benign
5	146120433	C	T	C146120433T	LARS1	NM_020117.11(LARS1):c.3263G>A:p.Arg1088Lys	coding	Benign
5	146120521	A	C	A146120521C	LARS1	NM_020117.11(LARS1):c.3193-18T>G	noncoding	Benign
5	146122597	C	T	C146122597T	LARS1	NM_020117.11(LARS1):c.3097-10G>A	noncoding	Benign/Likely_benign
5	146122598	G	A	G146122598A	LARS1	NM_020117.11(LARS1):c.3097-11C>T	noncoding	Benign
5	146124001	T	C	T146124001C	LARS1	NM_020117.11(LARS1):c.3077A>G:p.Tyr1026Cys	coding	Benign
5	146126196	A	G	A146126196G	LARS1	NM_020117.11(LARS1):c.2991+239T>C	noncoding	Benign
5	146126537	G	A	G146126537A	LARS1	NM_020117.11(LARS1):c.2889C>T:p.Asn963=	coding	Benign
5	146128338	T	C	T146128338C	LARS1	NM_020117.11(LARS1):c.2880+334A>G	noncoding	Benign
5	146128666	C	A	C146128666A	LARS1	NM_020117.11(LARS1):c.2880+6G>T	noncoding	Benign/Likely_benign
5	146128735	A	G	A146128735G	LARS1	NM_020117.11(LARS1):c.2817T>C:p.Tyr939=	coding	Benign
5	146128777	A	G	A146128777G	LARS1	NM_020117.11(LARS1):c.2775T>C:p.Thr925=	coding	Benign
5	146128964	C	A	C146128964A	LARS1	NM_020117.11(LARS1):c.2769+14G>T	noncoding	Benign
5	146129073	T	C	T146129073C	LARS1	NM_020117.11(LARS1):c.2674A>G:p.Asn892Asp	coding	Benign
5	146129074	A	C	A146129074C	LARS1	NM_020117.11(LARS1):c.2673T>G:p.Val891=	coding	Benign
5	146129081	C	T	C146129081T	LARS1	NM_020117.11(LARS1):c.2666G>A:p.Gly889Asp	coding	Benign/Likely_benign
5	146129128	A	G	A146129128G	LARS1	NM_020117.11(LARS1):c.2629-10T>C	noncoding	Benign
5	146129817	G	A	G146129817A	LARS1	NM_020117.11(LARS1):c.2628+201C>T	noncoding	Benign
5	146130010	G	A	G146130010A	LARS1	NM_020117.11(LARS1):c.2628+8C>T	noncoding	Benign
5	146130068	C	T	C146130068T	LARS1	NM_020117.11(LARS1):c.2578G>A:p.Ala860Thr	coding	Benign/Likely_benign
5	146130165	A	C	A146130165C	LARS1	NM_020117.11(LARS1):c.2488-7T>G	noncoding	Benign
5	146132594	T	C	T146132594C	LARS1	NM_020117.11(LARS1):c.2396+304A>G	noncoding	Benign
5	146133244	T	C	T146133244C	LARS1	NM_020117.11(LARS1):c.2213-163A>G	noncoding	Benign
5	146133388	G	C	G146133388C	LARS1	NM_020117.11(LARS1):c.2213-307C>G	noncoding	Benign
5	146135588	A	G	A146135588G	LARS1	NM_020117.11(LARS1):c.2212+13T>C	noncoding	Benign
5	146135680	A	G	A146135680G	LARS1	NM_020117.11(LARS1):c.2149-16T>C	noncoding	Benign
5	146135816	C	T	C146135816T	LARS1	NM_020117.11(LARS1):c.2149-152G>A	noncoding	Benign
5	146140258	G	A	G146140258A	LARS1	NM_020117.11(LARS1):c.2094C>T:p.Asp698=	coding	Benign
5	146143429	C	T	C146143429T	LARS1	NM_020117.11(LARS1):c.1860G>A:p.Glu620=	coding	Benign
5	146143542	G	A	G146143542A	LARS1	NM_020117.11(LARS1):c.1747C>T:p.Leu583=	coding	Benign
5	146144313	G	A	G146144313A	LARS1	NM_020117.11(LARS1):c.1692C>T:p.Thr564=	coding	Benign
5	146144357	A	G	A146144357G	LARS1	NM_020117.11(LARS1):c.1656-8T>C	noncoding	Benign/Likely_benign
5	146144713	A	C	A146144713C	LARS1	NM_020117.11(LARS1):c.1504-4T>G	noncoding	Benign
5	146144950	C	T	C146144950T	LARS1	NM_020117.11(LARS1):c.1504-241G>A	noncoding	Benign
5	146144951	A	G	A146144951G	LARS1	NM_020117.11(LARS1):c.1504-242T>C	noncoding	Benign
5	146149993	A	G	A146149993G	LARS1	NM_020117.11(LARS1):c.1426-294T>C	noncoding	Benign
5	146151550	G	C	G146151550C	LARS1	NM_020117.11(LARS1):c.1425+312C>G	noncoding	Benign
5	146152008	G	A	G146152008A	LARS1	NM_020117.11(LARS1):c.1285-6C>T	noncoding	Benign
5	146153565	T	C	T146153565C	LARS1	NM_020117.11(LARS1):c.1230+169A>G	noncoding	Benign
5	146153928	T	C	T146153928C	LARS1	NM_020117.11(LARS1):c.1118A>G:p.Tyr373Cys	coding	Pathogenic
5	146154223	A	T	A146154223T	LARS1	NM_020117.11(LARS1):c.1066-243T>A	noncoding	Benign
5	146157079	A	G	A146157079G	LARS1	NM_020117.11(LARS1):c.1065+324T>C	noncoding	Benign
5	146157972	C	T	C146157972T	LARS1	NM_020117.11(LARS1):c.772-177G>A	noncoding	Benign
5	146158004	T	C	T146158004C	LARS1	NM_020117.11(LARS1):c.772-209A>G	noncoding	Benign
5	146159659	T	C	T146159659C	LARS1	NM_020117.11(LARS1):c.708-189A>G	noncoding	Benign
5	146159696	G	C	G146159696C	LARS1	NM_020117.11(LARS1):c.708-226C>G	noncoding	Benign
5	146159776	T	G	T146159776G	LARS1	NM_020117.11(LARS1):c.708-306A>C	noncoding	Benign
5	146160433	T	G	T146160433G	LARS1	NM_020117.11(LARS1):c.648A>C:p.Ser216=	coding	Benign
5	146160505	A	G	A146160505G	LARS1	NM_020117.11(LARS1):c.595-19T>C	noncoding	Benign
5	146160812	A	G	A146160812G	LARS1	NM_020117.11(LARS1):c.595-326T>C	noncoding	Benign
5	146164301	T	G	T146164301G	LARS1	NM_020117.11(LARS1):c.594+9A>C	noncoding	Benign
5	146164409	G	A	G146164409A	LARS1	NM_020117.11(LARS1):c.495C>T:p.Gly165=	coding	Benign
5	146164483	G	A	G146164483A	LARS1	NM_020117.11(LARS1):c.433-12C>T	noncoding	Benign
5	146168206	T	C	T146168206C	LARS1	NM_020117.11(LARS1):c.354A>G:p.Pro118=	coding	Benign
5	146168276	T	C	T146168276C	LARS1	NM_020117.11(LARS1):c.295-11A>G	noncoding	Benign
5	146171618	C	A	C146171618A	LARS1	NM_020117.11(LARS1):c.294+292G>T	noncoding	Benign
5	146171901	C	T	C146171901T	LARS1	NM_020117.11(LARS1):c.294+9G>A	noncoding	Benign
5	146171902	G	A	G146171902A	LARS1	NM_020117.11(LARS1):c.294+8C>T	noncoding	Benign
5	146171959	T	C	T146171959C	LARS1	NM_020117.11(LARS1):c.245A>G:p.Lys82Arg	coding	Benign
5	146172424	A	G	A146172424G	LARS1	NM_020117.11(LARS1):c.213+263T>C	noncoding	Benign
5	146172783	C	A	C146172783A	LARS1	NM_020117.11(LARS1):c.126-9G>T	noncoding	Benign
5	146172979	T	C	T146172979C	LARS1	NM_020117.11(LARS1):c.126-205A>G	noncoding	Benign
5	146177563	A	C	A146177563C	LARS1	NM_020117.11(LARS1):c.109T>G:p.Leu37Val	coding	Benign
5	146177825	C	G	C146177825G	LARS1	NM_020117.11(LARS1):c.7-160G>C	noncoding	Benign
5	146339202	C	T	C146339202T	POU4F3	NM_002700.3(POU4F3):c.90C>T:p.Ala30=	coding	Benign
5	146339240	G	A	G146339240A	POU4F3	NM_002700.3(POU4F3):c.120+8G>A	noncoding	Benign/Likely_benign
5	146339724	C	T	C146339724T	POU4F3	NM_002700.3(POU4F3):c.297C>T:p.His99=	coding	Benign/Likely_benign
5	146339757	C	T	C146339757T	POU4F3	NM_002700.3(POU4F3):c.330C>T:p.Ala110=	coding	Benign
5	146339801	C	T	C146339801T	POU4F3	NM_002700.3(POU4F3):c.374C>T:p.Pro125Leu	coding	Pathogenic
5	146339805	G	A	G146339805A	POU4F3	NM_002700.3(POU4F3):c.378G>A:p.Thr126=	coding	Benign
5	146340090	C	A	C146340090A	POU4F3	NM_002700.3(POU4F3):c.663C>A:p.Gly221=	coding	Benign
5	146340095	T	C	T146340095C	POU4F3	NM_002700.3(POU4F3):c.668T>C:p.Leu223Pro	coding	Pathogenic
5	146340219	C	T	C146340219T	POU4F3	NM_002700.3(POU4F3):c.792C>T:p.Ser264=	coding	Benign
5	146340264	G	T	G146340264T	POU4F3	NM_002700.3(POU4F3):c.837G>T:p.Thr279=	coding	Benign
5	146340292	C	T	C146340292T	POU4F3	NM_002700.3(POU4F3):c.865C>T:p.Leu289Phe	coding	Pathogenic
5	146340404	G	A	G146340404A	POU4F3	NM_002700.3(POU4F3):c.977G>A:p.Arg326Lys	coding	Pathogenic
5	146459281	C	T	C146459281T	TCERG1	NM_006706.4(TCERG1):c.836C>T:p.Pro279Leu	coding	Benign
5	146515831	G	A	G146515831A	GPR151	NC_000005.10:g.146515831G>A	coding	Benign
5	147399154	C	G	C147399154G	DPYSL3	NM_001197294.2(DPYSL3):c.1551G>C:p.Val517=	coding	Benign
5	147400843	G	A	G147400843A	DPYSL3	NM_001197294.2(DPYSL3):c.1311-10C>T	noncoding	Benign
5	147408788	G	C	G147408788C	DPYSL3	NM_001197294.2(DPYSL3):c.972C>G:p.Thr324=	coding	Benign
5	147415701	G	A	G147415701A	DPYSL3	NM_001197294.2(DPYSL3):c.820+8C>T	noncoding	Benign
5	147824627	G	A	G147824627A	SPINK1	NM_003122.4(SPINK1):c.*34C>T	noncoding	Benign
5	147824629	G	A	G147824629A	SPINK1	NM_003122.4(SPINK1):c.*32C>T	noncoding	Benign/Likely_benign
5	147824670	C	T	C147824670T	SPINK1	NM_003122.4(SPINK1):c.231G>A:p.Gly77=	coding	Benign/Likely_benign
5	147824701	C	T	C147824701T	SPINK1	NM_003122.4(SPINK1):c.200G>A:p.Arg67His	coding	Benign/Likely_benign
5	147827838	A	T	A147827838T	SPINK1	NM_003122.4(SPINK1):c.194+184T>A	noncoding	Benign
5	147828042	G	A	G147828042A	SPINK1	NM_003122.4(SPINK1):c.174C>T:p.Cys58=	coding	Benign/Likely_benign
5	147828053	G	A	G147828053A	SPINK1	NM_003122.4(SPINK1):c.163C>T:p.Pro55Ser	coding	Benign/Likely_benign
5	147828056	A	G	A147828056G	SPINK1	NM_003122.4(SPINK1):c.160T>C:p.Tyr54His	coding	Pathogenic
5	147828066	A	C	A147828066C	SPINK1	NM_003122.4(SPINK1):c.150T>G:p.Asp50Glu	coding	Pathogenic
5	147828151	T	A	T147828151A	SPINK1	NM_003122.4(SPINK1):c.88-23A>T	noncoding	Benign/Likely_benign
5	147829573	A	G	A147829573G	SPINK1	NM_003122.4(SPINK1):c.87+26T>C	noncoding	Benign
5	147829598	C	T	C147829598T	SPINK1	NM_003122.4(SPINK1):c.87+1G>A	noncoding	Pathogenic
5	147831537	A	C	A147831537C	SPINK1	NM_003122.4(SPINK1):c.41T>G:p.Leu14Arg	coding	Pathogenic
5	147831537	A	G	A147831537G	SPINK1	NM_003122.4(SPINK1):c.41T>C:p.Leu14Pro	coding	Pathogenic
5	147831542	C	G	C147831542G	SPINK1	NM_003122.4(SPINK1):c.36G>C:p.Leu12Phe	coding	Benign/Likely_benign
5	147831576	A	G	A147831576G	SPINK1	NM_003122.4(SPINK1):c.2T>C:p.Met1Thr	coding	Pathogenic
5	147831599	G	A	G147831599A	SPINK1	NM_003122.4(SPINK1):c.-22C>T	noncoding	Benign/Likely_benign
5	147831618	C	T	C147831618T	SPINK1	NM_003122.4(SPINK1):c.-41G>A	noncoding	Benign/Likely_benign
5	148063984	A	C	A148063984C	SPINK5	NM_006846.3(SPINK5):c.-61A>C	noncoding	Benign
5	148064026	G	A	G148064026A	SPINK5	NM_006846.4(SPINK5):c.-19G>A	noncoding	Benign
5	148065358	A	T	A148065358T	SPINK5	NM_006846.4(SPINK5):c.67A>T:p.Lys23Ter	coding	Pathogenic
5	148065374	T	A	T148065374A	SPINK5	NM_006846.3(SPINK5):c.81+2T>A	noncoding	Pathogenic
5	148065460	C	G	C148065460G	SPINK5	NM_006846.3(SPINK5):c.81+88C>G	noncoding	Benign
5	148065537	C	T	C148065537T	SPINK5	NM_006846.3(SPINK5):c.81+165C>T	noncoding	Benign
5	148070360	G	C	G148070360C	SPINK5	NM_006846.3(SPINK5):c.119G>C:p.Gly40Ala	coding	Benign
5	148070377	C	T	C148070377T	SPINK5	NM_006846.3(SPINK5):c.136C>T:p.Gln46Ter	coding	Pathogenic
5	148070465	C	T	C148070465T	SPINK5	NM_006846.3(SPINK5):c.209+15C>T	noncoding	Benign
5	148070684	A	G	A148070684G	SPINK5	NM_006846.3(SPINK5):c.209+234A>G	noncoding	Benign
5	148071853	A	G	A148071853G	SPINK5	NM_006846.3(SPINK5):c.210-295A>G	noncoding	Benign
5	148071888	C	T	C148071888T	SPINK5	NM_006846.3(SPINK5):c.210-260C>T	noncoding	Benign
5	148086066	T	C	T148086066C	SPINK5	NM_006846.3(SPINK5):c.283-339T>C	noncoding	Benign
5	148086068	C	T	C148086068T	SPINK5	NM_006846.3(SPINK5):c.283-337C>T	noncoding	Benign
5	148086403	A	T	A148086403T	SPINK5	NM_006846.3(SPINK5):c.283-2A>T	noncoding	Pathogenic
5	148086438	G	A	G148086438A	SPINK5	NM_006846.3(SPINK5):c.316G>A:p.Asp106Asn	coding	Benign
5	148086656	A	G	A148086656G	SPINK5	NM_006846.3(SPINK5):c.410+124A>G	noncoding	Benign
5	148089550	G	A	G148089550A	SPINK5	NM_006846.3(SPINK5):c.531G>A:p.Arg177=	coding	Benign
5	148091211	C	T	C148091211T	SPINK5	NM_006846.3(SPINK5):c.649C>T:p.Arg217Ter	coding	Pathogenic
5	148091214	C	T	C148091214T	SPINK5	NM_006846.3(SPINK5):c.652C>T:p.Arg218Ter	coding	Pathogenic
5	148094104	G	A	G148094104A	SPINK5	NM_006846.3(SPINK5):c.667-250G>A	noncoding	Benign
5	148094425	C	T	C148094425T	SPINK5	NM_006846.4(SPINK5):c.738C>T:p.Val246=	coding	Benign
5	148094794	A	T	A148094794T	SPINK5	NM_006846.3(SPINK5):c.794+313A>T	noncoding	Benign
5	148095590	C	A	C148095590A	SPINK5	NM_006846.3(SPINK5):c.795-228C>A	noncoding	Benign
5	148095823	A	G	A148095823G	SPINK5	NM_006846.4(SPINK5):c.800A>G:p.Gln267Arg	coding	Benign
5	148095825	C	T	C148095825T	SPINK5	NM_001127698.2(SPINK5):c.802C>T:p.Arg268Cys	coding	Benign/Likely_benign
5	148095907	T	C	T148095907C	SPINK5	NM_006846.3(SPINK5):c.882+2T>C	noncoding	Pathogenic
5	148095925	A	G	A148095925G	SPINK5	NM_006846.3(SPINK5):c.882+20A>G	noncoding	Benign
5	148096027	G	A	G148096027A	SPINK5	NM_006846.3(SPINK5):c.882+122G>A	noncoding	Benign
5	148096046	A	G	A148096046G	SPINK5	NM_006846.3(SPINK5):c.882+141A>G	noncoding	Benign
5	148096064	G	A	G148096064A	SPINK5	NM_006846.3(SPINK5):c.882+159G>A	noncoding	Benign
5	148096143	G	A	G148096143A	SPINK5	NM_006846.3(SPINK5):c.882+238G>A	noncoding	Benign
5	148097697	A	G	A148097697G	SPINK5	NM_006846.3(SPINK5):c.883-170A>G	noncoding	Benign
5	148097875	C	T	C148097875T	SPINK5	NM_001127698.2(SPINK5):c.891C>T:p.Cys297=	coding	Pathogenic/Likely_pathogenic
5	148097984	C	T	C148097984T	SPINK5	NM_006846.4(SPINK5):c.1000C>T:p.Gln334Ter	coding	Pathogenic
5	148097988	C	T	C148097988T	SPINK5	NM_006846.4(SPINK5):c.1004C>T:p.Ala335Val	coding	Benign
5	148099011	C	G	C148099011G	SPINK5	NM_006846.3(SPINK5):c.1011-223C>G	noncoding	Benign
5	148099222	C	T	C148099222T	SPINK5	NM_006846.4(SPINK5):c.1011-12C>T	noncoding	Benign
5	148099235	C	T	C148099235T	SPINK5	NM_006846.4(SPINK5):c.1012C>T:p.Gln338Ter	coding	Pathogenic
5	148099271	C	T	C148099271T	SPINK5	NM_006846.3(SPINK5):c.1048C>T:p.Arg350Ter	coding	Pathogenic
5	148099312	T	G	T148099312G	SPINK5	NM_006846.3(SPINK5):c.1089T>G:p.Tyr363Ter	coding	Pathogenic
5	148099474	A	G	A148099474G	SPINK5	NM_006846.3(SPINK5):c.1092+159A>G	noncoding	Benign
5	148099487	A	G	A148099487G	SPINK5	NM_006846.3(SPINK5):c.1092+172A>G	noncoding	Benign
5	148099553	T	A	T148099553A	SPINK5	NM_006846.3(SPINK5):c.1092+238T>A	noncoding	Benign
5	148100228	A	G	A148100228G	SPINK5	NM_006846.3(SPINK5):c.1093-226A>G	noncoding	Benign
5	148100245	G	C	G148100245C	SPINK5	NM_006846.3(SPINK5):c.1093-209G>C	noncoding	Benign
5	148100444	A	G	A148100444G	SPINK5	NM_006846.4(SPINK5):c.1093-10A>G	noncoding	Benign
5	148100464	G	A	G148100464A	SPINK5	NM_006846.4(SPINK5):c.1103G>A:p.Ser368Asn	coding	Benign
5	148100489	C	T	C148100489T	SPINK5	NM_006846.3(SPINK5):c.1128C>T:p.Asn376=	coding	Benign/Likely_benign
5	148100517	G	A	G148100517A	SPINK5	NM_006846.4(SPINK5):c.1156G>A:p.Asp386Asn	coding	Benign
5	148100549	T	C	T148100549C	SPINK5	NM_006846.4(SPINK5):c.1188T>C:p.His396=	coding	Benign
5	148101392	A	G	A148101392G	SPINK5	NM_006846.4(SPINK5):c.1258A>G:p.Lys420Glu	coding	Benign
5	148101440	A	T	A148101440T	SPINK5	NM_006846.3(SPINK5):c.1302+4A>T	noncoding	Pathogenic
5	148101455	G	A	G148101455A	SPINK5	NM_006846.3(SPINK5):c.1302+19G>A	noncoding	Benign
5	148101681	G	A	G148101681A	SPINK5	NM_006846.3(SPINK5):c.1303-100G>A	noncoding	Benign
5	148101800	G	A	G148101800A	SPINK5	NM_006846.3(SPINK5):c.1322G>A:p.Arg441His	coding	Benign
5	148101822	G	A	G148101822A	SPINK5	NM_006846.3(SPINK5):c.1344G>A:p.Arg448=	coding	Benign
5	148101867	A	G	A148101867G	SPINK5	NM_006846.4(SPINK5):c.1389A>G:p.Gly463=	coding	Benign
5	148104940	G	A	G148104940A	SPINK5	NM_001127698.2(SPINK5):c.1431-12G>A	noncoding	Pathogenic/Likely_pathogenic
5	148106796	C	T	C148106796T	SPINK5	NM_006846.3(SPINK5):c.1480-241C>T	noncoding	Benign
5	148107087	C	A	C148107087A	SPINK5	NM_006846.3(SPINK5):c.1530C>A:p.Cys510Ter	coding	Pathogenic
5	148107109	C	T	C148107109T	SPINK5	NM_006846.3(SPINK5):c.1552C>T:p.Arg518Cys	coding	Benign
5	148107114	C	A	C148107114A	SPINK5	NM_006846.4(SPINK5):c.1557C>A:p.Gly519=	coding	Benign
5	148107162	G	T	G148107162T	SPINK5	NM_006846.3(SPINK5):c.1605G>T:p.Val535=	coding	Benign/Likely_benign
5	148107438	G	A	G148107438A	SPINK5	NM_006846.3(SPINK5):c.1607+274G>A	noncoding	Benign
5	148108804	C	T	C148108804T	SPINK5	NM_006846.4(SPINK5):c.1659C>T:p.Val553=	coding	Benign
5	148111839	T	G	T148111839G	SPINK5	NM_006846.3(SPINK5):c.1764T>G:p.Ile588Met	coding	Benign
5	148112872	C	T	C148112872T	SPINK5	NM_006846.4(SPINK5):c.1825C>T:p.Gln609Ter	coding	Pathogenic
5	148112898	T	C	T148112898C	SPINK5	NM_006846.3(SPINK5):c.1851T>C:p.Ala617=	coding	Benign
5	148114217	T	G	T148114217G	SPINK5	NM_006846.3(SPINK5):c.1888-145T>G	noncoding	Benign
5	148114228	C	T	C148114228T	SPINK5	NM_006846.3(SPINK5):c.1888-134C>T	noncoding	Benign
5	148114308	G	A	G148114308A	SPINK5	NM_006846.3(SPINK5):c.1888-54G>A	noncoding	Benign
5	148114361	G	A	G148114361A	SPINK5	NM_006846.3(SPINK5):c.1888-1G>A	noncoding	Pathogenic
5	148116415	G	A	G148116415A	SPINK5	NM_006846.3(SPINK5):c.2061G>A:p.Gln687=	coding	Benign/Likely_benign
5	148116713	T	C	T148116713C	SPINK5	NM_006846.3(SPINK5):c.2112+247T>C	noncoding	Benign
5	148116744	G	A	G148116744A	SPINK5	NM_006846.3(SPINK5):c.2112+278G>A	noncoding	Benign
5	148118456	G	A	G148118456A	SPINK5	NM_006846.4(SPINK5):c.2132G>A:p.Arg711Gln	coding	Benign
5	148118539	C	T	C148118539T	SPINK5	NM_006846.3(SPINK5):c.2215C>T:p.Gln739Ter	coding	Pathogenic
5	148118565	G	A	G148118565A	SPINK5	NM_006846.3(SPINK5):c.2240+1G>A	coding	Pathogenic
5	148118729	A	G	A148118729G	SPINK5	NM_006846.3(SPINK5):c.2240+165A>G	noncoding	Benign
5	148118826	G	C	G148118826C	SPINK5	NM_006846.3(SPINK5):c.2241-160G>C	noncoding	Benign
5	148118980	C	T	C148118980T	SPINK5	NM_006846.3(SPINK5):c.2241-6C>T	noncoding	Benign/Likely_benign
5	148119286	C	T	C148119286T	SPINK5	NM_006846.3(SPINK5):c.2313+228C>T	noncoding	Benign
5	148119687	G	A	G148119687A	SPINK5	NM_006846.3(SPINK5):c.2314-322G>A	noncoding	Benign
5	148120053	C	T	C148120053T	SPINK5	NM_006846.4(SPINK5):c.2358C>T:p.Leu786=	coding	Benign
5	148120063	C	T	C148120063T	SPINK5	NM_006846.3(SPINK5):c.2368C>T:p.Arg790Ter	coding	Pathogenic
5	148120077	T	C	T148120077C	SPINK5	NM_006846.3(SPINK5):c.2382T>C:p.Pro794=	coding	Benign
5	148120107	C	T	C148120107T	SPINK5	NM_006846.4(SPINK5):c.2412C>T:p.Gly804=	coding	Benign
5	148120320	A	T	A148120320T	SPINK5	NM_006846.3(SPINK5):c.2467A>T:p.Lys823Ter	coding	Pathogenic
5	148120328	G	T	G148120328T	SPINK5	NM_006846.4(SPINK5):c.2475G>T:p.Glu825Asp	coding	Benign
5	148123851	C	T	C148123851T	SPINK5	NM_001127698.2(SPINK5):c.2557C>T:p.Arg853Ter	coding	Pathogenic
5	148123905	C	T	C148123905T	SPINK5	NM_006846.4(SPINK5):c.2611C>T:p.Arg871Ter	coding	Pathogenic
5	148123916	T	A	T148123916A	SPINK5	NM_006846.3(SPINK5):c.2622T>A:p.Tyr874Ter	coding	Pathogenic
5	148123955	C	G	C148123955G	SPINK5	NM_006846.3(SPINK5):c.2661C>G:p.Ser887Arg	coding	Benign
5	148124193	G	A	G148124193A	SPINK5	NM_006846.3(SPINK5):c.2666+233G>A	noncoding	Benign
5	148124257	A	C	A148124257C	SPINK5	NM_006846.3(SPINK5):c.2666+297A>C	noncoding	Benign
5	148124752	A	T	A148124752T	SPINK5	NM_006846.4(SPINK5):c.2667-13A>T	noncoding	Benign
5	148124761	G	A	G148124761A	SPINK5	NM_006846.3(SPINK5):c.2667-4G>A	noncoding	Benign/Likely_benign
5	148124764	G	A	G148124764A	SPINK5	NM_006846.3(SPINK5):c.2667-1G>A	noncoding	Pathogenic
5	148124769	C	T	C148124769T	SPINK5	NM_006846.4(SPINK5):c.2671C>T:p.Arg891Ter	coding	Pathogenic
5	148125342	A	G	A148125342G	SPINK5	NM_006846.3(SPINK5):c.2740-381A>G	noncoding	Benign
5	148125553	G	A	G148125553A	SPINK5	NM_006846.4(SPINK5):c.2740-170G>A	coding	Benign
5	148125737	A	G	A148125737G	SPINK5	NM_006846.3(SPINK5):c.2754A>G:p.Glu918=	coding	Benign
5	148125745	A	G	A148125745G	SPINK5	NM_006846.3(SPINK5):c.2762A>G:p.Asn921Ser	coding	Benign
5	148125847	T	C	T148125847C	SPINK5	NM_006846.3(SPINK5):c.2864T>C:p.Val955Ala	coding	Benign
5	148126123	T	A	T148126123A	SPINK5	NM_006846.3(SPINK5):c.2867+273T>A	noncoding	Benign
5	148126814	A	G	A148126814G	SPINK5	NM_006846.3(SPINK5):c.2868-169A>G	noncoding	Benign
5	148127010	G	A	G148127010A	SPINK5	NM_006846.3(SPINK5):c.2895G>A:p.Lys965=	coding	Benign
5	148127020	A	G	A148127020G	SPINK5	NM_006846.3(SPINK5):c.2905A>G:p.Lys969Glu	coding	Benign
5	148127030	A	G	A148127030G	SPINK5	NM_006846.3(SPINK5):c.2915A>G:p.His972Arg	coding	Benign
5	148127304	A	G	A148127304G	SPINK5	NM_006846.3(SPINK5):c.2964+225A>G	noncoding	Benign
5	148127328	G	A	G148127328A	SPINK5	NM_006846.3(SPINK5):c.2964+249G>A	noncoding	Benign
5	148131249	G	C	G148131249C	SPINK5	NM_006846.3(SPINK5):c.2965-10G>C	noncoding	Benign
5	148131303	T	C	T148131303C	SPINK5	NM_006846.4(SPINK5):c.3009T>C:p.Gly1003=	coding	Benign
5	148133884	G	A	G148133884A	SPINK5	NM_006846.3(SPINK5):c.3183G>A:p.Pro1061=	coding	Benign/Likely_benign
5	148133895	C	T	C148133895T	SPINK5	NM_006846.3(SPINK5):c.3186+8C>T	noncoding	Benign
5	148137035	T	C	T148137035C	SPINK5	NM_006846.3(SPINK5):c.*44T>C	noncoding	Benign
5	148137050	C	T	C148137050T	SPINK5	NM_006846.3(SPINK5):c.*59C>T	noncoding	Benign
5	148137199	C	G	C148137199G	SPINK5	NM_006846.3(SPINK5):c.*208C>G	noncoding	Benign
5	148137321	T	C	T148137321C	SPINK5	NM_006846.3(SPINK5):c.*330T>C	noncoding	Benign
5	148394863	T	C	T148394863C	FBXO38	NM_205836.3(FBXO38):c.87T>C:p.Tyr29=	coding	Benign
5	148399068	A	G	A148399068G	FBXO38	NM_205836.3(FBXO38):c.198A>G:p.Leu66=	coding	Benign
5	148404708	T	C	T148404708C	FBXO38	NM_205836.3(FBXO38):c.616T>C:p.Cys206Arg	coding	Pathogenic
5	148404794	A	G	A148404794G	FBXO38	NM_205836.3(FBXO38):c.702A>G:p.Leu234=	coding	Benign
5	148416057	G	A	G148416057A	FBXO38	NM_205836.3(FBXO38):c.1394G>A:p.Arg465His	coding	Benign
5	148424125	T	A	T148424125A	FBXO38	NM_205836.3(FBXO38):c.1738+8T>A	noncoding	Benign
5	148433450	G	A	G148433450A	FBXO38	NM_205836.3(FBXO38):c.2680G>A:p.Ala894Thr	coding	Benign
5	148438459	C	T	C148438459T	FBXO38	NM_205836.3(FBXO38):c.2985C>T:p.Pro995=	coding	Benign
5	148441206	C	T	C148441206T	FBXO38	NM_205836.3(FBXO38):c.3357C>T:p.Phe1119=	coding	Benign
5	148483255	C	T	C148483255T	HTR4	NM_000870.7(HTR4):c.1115G>A:p.Cys372Tyr	coding	Benign
5	148484289	T	C	T148484289C	HTR4	NM_000870.7(HTR4):c.1077-996A>G	coding	Benign
5	148509464	A	G	A148509464G	HTR4	NM_000870.7(HTR4):c.1068T>C:p.His356=	coding	Benign
5	148826897	C	T	C148826897T	ADRB2	NM_000024.5(ADRB2):c.66C>T:p.His22=	coding	Benign
5	148827037	A	G	A148827037G	ADRB2	NM_000024.5(ADRB2):c.206A>G:p.Asn69Ser	coding	Benign
5	148827490	C	G	C148827490G	ADRB2	NM_000024.5(ADRB2):c.659C>G:p.Ser220Cys	coding	Benign
5	148827929	T	C	T148827929C	ADRB2	NM_000024.5(ADRB2):c.1098T>C:p.Tyr366=	coding	Benign
5	148828010	T	C	T148828010C	ADRB2	NM_000024.5(ADRB2):c.1179T>C:p.Thr393=	coding	Benign
5	148982499	C	T	C148982499T	SH3TC2	NM_024577.3(SH3TC2):c.*22212G>A	noncoding	Benign/Likely_benign
5	148984248	A	G	A148984248G	SH3TC2	NM_024577.3(SH3TC2):c.*20463T>C	noncoding	Benign
5	148984504	G	A	G148984504A	SH3TC2	NM_024577.4(SH3TC2):c.*20207C>T	noncoding	Benign
5	148984545	A	T	A148984545T	SH3TC2	NM_024577.3(SH3TC2):c.*20166T>A	noncoding	Benign
5	148984569	T	C	T148984569C	SH3TC2	NM_024577.3(SH3TC2):c.*20142A>G	noncoding	Benign/Likely_benign
5	148984792	A	G	A148984792G	SH3TC2	NM_024577.3(SH3TC2):c.*19919T>C	noncoding	Benign
5	148985138	C	T	C148985138T	SH3TC2	NM_024577.3(SH3TC2):c.*19573G>A	noncoding	Benign
5	148985192	C	T	C148985192T	SH3TC2	NM_024577.3(SH3TC2):c.*19519G>A	noncoding	Benign
5	148985305	T	A	T148985305A	SH3TC2	NM_024577.3(SH3TC2):c.*19406A>T	noncoding	Benign
5	148985441	C	T	C148985441T	SH3TC2	NM_024577.3(SH3TC2):c.*19270G>A	noncoding	Benign
5	148985671	T	C	T148985671C	SH3TC2	NM_024577.3(SH3TC2):c.*19040A>G	noncoding	Benign
5	148986012	A	C	A148986012C	SH3TC2	NM_024577.4(SH3TC2):c.*18699T>G	noncoding	Benign
5	148986105	A	C	A148986105C	SH3TC2	NM_024577.3(SH3TC2):c.*18606T>G	noncoding	Benign/Likely_benign
5	148986157	C	A	C148986157A	SH3TC2	NM_024577.3(SH3TC2):c.*18554G>T	noncoding	Benign
5	148986412	G	A	G148986412A	SH3TC2	NM_024577.3(SH3TC2):c.*18299C>T	noncoding	Benign
5	148986808	T	C	T148986808C	SH3TC2	NM_024577.3(SH3TC2):c.*17903A>G	noncoding	Benign
5	148987008	T	C	T148987008C	SH3TC2	NM_024577.3(SH3TC2):c.*17703A>G	noncoding	Benign
5	148987394	C	T	C148987394T	SH3TC2	NM_024577.3(SH3TC2):c.*17317G>A	noncoding	Benign
5	148987675	G	C	G148987675C	SH3TC2	NM_024577.3(SH3TC2):c.*17036C>G	noncoding	Benign
5	148987761	A	G	A148987761G	SH3TC2	NM_024577.3(SH3TC2):c.*16950T>C	noncoding	Benign
5	148987927	G	A	G148987927A	SH3TC2	NM_024577.3(SH3TC2):c.*16784C>T	noncoding	Benign/Likely_benign
5	148988080	C	T	C148988080T	SH3TC2	NM_024577.3(SH3TC2):c.*16631G>A	noncoding	Benign
5	148988691	T	G	T148988691G	SH3TC2	NM_024577.3(SH3TC2):c.*16020A>C	noncoding	Benign
5	148988888	A	G	A148988888G	SH3TC2	NM_024577.3(SH3TC2):c.*15823T>C	noncoding	Benign
5	148989650	G	A	G148989650A	SH3TC2	NM_024577.3(SH3TC2):c.*15061C>T	noncoding	Benign
5	148989817	C	T	C148989817T	SH3TC2	NM_024577.3(SH3TC2):c.*14894G>A	noncoding	Benign
5	148989855	G	T	G148989855T	SH3TC2	NM_024577.3(SH3TC2):c.*14856C>A	noncoding	Benign
5	148989945	A	T	A148989945T	SH3TC2	NM_024577.3(SH3TC2):c.*14766T>A	noncoding	Benign
5	148989961	T	C	T148989961C	SH3TC2	NM_024577.4(SH3TC2):c.*14750A>G	noncoding	Benign
5	148990090	C	A	C148990090A	SH3TC2	NM_024577.3(SH3TC2):c.*14621G>T	noncoding	Benign
5	148990149	C	T	C148990149T	SH3TC2	NM_024577.3(SH3TC2):c.*14562G>A	noncoding	Benign
5	148990300	C	T	C148990300T	SH3TC2	NM_024577.3(SH3TC2):c.*14411G>A	noncoding	Benign
5	148991197	T	C	T148991197C	SH3TC2	NM_024577.3(SH3TC2):c.*13514A>G	noncoding	Benign
5	148991481	G	A	G148991481A	SH3TC2	NM_024577.3(SH3TC2):c.*13230C>T	noncoding	Benign/Likely_benign
5	148991507	T	C	T148991507C	SH3TC2	NM_024577.4(SH3TC2):c.*13204A>G	noncoding	Benign/Likely_benign
5	148991742	G	T	G148991742T	SH3TC2	NM_024577.3(SH3TC2):c.*12969C>A	noncoding	Benign
5	148992521	C	T	C148992521T	SH3TC2	NM_024577.4(SH3TC2):c.*12190G>A	noncoding	Benign
5	148992859	C	A	C148992859A	SH3TC2	NM_024577.3(SH3TC2):c.*11852G>T	noncoding	Benign
5	148993107	C	T	C148993107T	SH3TC2	NM_024577.4(SH3TC2):c.*11604G>A	noncoding	Benign
5	148993321	T	C	T148993321C	SH3TC2	NM_024577.3(SH3TC2):c.*11390A>G	noncoding	Benign
5	148993591	C	T	C148993591T	SH3TC2	NM_024577.3(SH3TC2):c.*11120G>A	noncoding	Benign
5	148993701	T	C	T148993701C	SH3TC2	NM_024577.3(SH3TC2):c.*11010A>G	noncoding	Benign/Likely_benign
5	148993743	C	T	C148993743T	SH3TC2	NM_024577.3(SH3TC2):c.*10968G>A	noncoding	Benign
5	148993944	C	T	C148993944T	SH3TC2	NM_024577.3(SH3TC2):c.*10767G>A	noncoding	Benign
5	148994097	C	T	C148994097T	SH3TC2	NM_024577.4(SH3TC2):c.*10614G>A	noncoding	Benign
5	148994226	C	T	C148994226T	SH3TC2	NM_024577.3(SH3TC2):c.*10485G>A	noncoding	Benign
5	148994591	G	T	G148994591T	SH3TC2	NM_024577.3(SH3TC2):c.*10120C>A	noncoding	Benign
5	148994610	G	A	G148994610A	SH3TC2	NM_024577.3(SH3TC2):c.*10101C>T	noncoding	Benign
5	148994612	T	A	T148994612A	SH3TC2	NM_024577.3(SH3TC2):c.*10099A>T	noncoding	Benign
5	148995207	C	T	C148995207T	SH3TC2	NM_024577.4(SH3TC2):c.*9504G>A	noncoding	Benign
5	148995955	C	A	C148995955A	SH3TC2	NM_024577.3(SH3TC2):c.*8756G>T	noncoding	Benign
5	148996463	C	G	C148996463G	SH3TC2	NM_024577.3(SH3TC2):c.*8248G>C	noncoding	Benign
5	148996658	C	T	C148996658T	SH3TC2	NM_024577.3(SH3TC2):c.*8053G>A	noncoding	Benign
5	148996793	G	A	G148996793A	SH3TC2	NM_024577.4(SH3TC2):c.*7918C>T	noncoding	Benign/Likely_benign
5	148997260	G	A	G148997260A	SH3TC2	NM_024577.4(SH3TC2):c.*7451C>T	noncoding	Benign
5	148997419	G	A	G148997419A	SH3TC2	NM_024577.3(SH3TC2):c.*7292C>T	noncoding	Benign
5	148997460	T	C	T148997460C	SH3TC2	NM_024577.4(SH3TC2):c.*7251A>G	noncoding	Benign
5	148998019	T	C	T148998019C	SH3TC2	NM_024577.3(SH3TC2):c.*6692A>G	noncoding	Benign
5	148998088	C	T	C148998088T	SH3TC2	NM_024577.3(SH3TC2):c.*6623G>A	noncoding	Benign
5	148998201	C	T	C148998201T	SH3TC2	NM_024577.3(SH3TC2):c.*6510G>A	noncoding	Benign
5	148998241	A	G	A148998241G	SH3TC2	NM_024577.3(SH3TC2):c.*6470T>C	noncoding	Benign/Likely_benign
5	148998275	C	A	C148998275A	SH3TC2	NM_024577.3(SH3TC2):c.*6436G>T	noncoding	Benign
5	148998319	G	A	G148998319A	SH3TC2	NM_024577.4(SH3TC2):c.*6392C>T	noncoding	Benign
5	148998469	T	C	T148998469C	SH3TC2	NM_024577.3(SH3TC2):c.*6242A>G	noncoding	Benign
5	148998549	G	A	G148998549A	SH3TC2	NM_024577.3(SH3TC2):c.*6162C>T	noncoding	Benign
5	148998660	C	T	C148998660T	SH3TC2	NM_024577.3(SH3TC2):c.*6051G>A	noncoding	Benign
5	148998664	A	T	A148998664T	SH3TC2	NM_024577.3(SH3TC2):c.*6047T>A	noncoding	Benign/Likely_benign
5	148998712	C	T	C148998712T	SH3TC2	NM_024577.3(SH3TC2):c.*5999G>A	noncoding	Benign
5	148998764	G	C	G148998764C	SH3TC2	NM_024577.4(SH3TC2):c.*5947C>G	noncoding	Benign/Likely_benign
5	148998912	G	A	G148998912A	SH3TC2	NM_024577.3(SH3TC2):c.*5799C>T	noncoding	Benign
5	148999175	A	C	A148999175C	SH3TC2	NM_024577.4(SH3TC2):c.*5536T>G	noncoding	Benign/Likely_benign
5	148999221	C	T	C148999221T	SH3TC2	NM_024577.3(SH3TC2):c.*5490G>A	noncoding	Benign
5	148999992	G	C	G148999992C	SH3TC2	NM_024577.3(SH3TC2):c.*4719C>G	noncoding	Benign
5	149000073	T	A	T149000073A	SH3TC2	NM_024577.4(SH3TC2):c.*4638A>T	noncoding	Benign
5	149000108	G	A	G149000108A	SH3TC2	NM_024577.4(SH3TC2):c.*4603C>T	noncoding	Benign
5	149000156	T	C	T149000156C	SH3TC2	NM_024577.3(SH3TC2):c.*4555A>G	noncoding	Benign
5	149000413	G	A	G149000413A	SH3TC2	NM_024577.3(SH3TC2):c.*4298C>T	noncoding	Benign/Likely_benign
5	149000851	C	T	C149000851T	SH3TC2	NM_024577.3(SH3TC2):c.*3860G>A	noncoding	Benign
5	149001017	A	T	A149001017T	SH3TC2	NM_024577.3(SH3TC2):c.*3694T>A	noncoding	Benign
5	149001465	T	G	T149001465G	SH3TC2	NM_024577.4(SH3TC2):c.*3246A>C	noncoding	Benign
5	149001515	A	G	A149001515G	SH3TC2	NM_024577.3(SH3TC2):c.*3196T>C	noncoding	Benign
5	149001575	C	T	C149001575T	SH3TC2	NM_024577.3(SH3TC2):c.*3136G>A	noncoding	Benign
5	149001632	C	T	C149001632T	SH3TC2	NM_024577.3(SH3TC2):c.*3079G>A	noncoding	Benign/Likely_benign
5	149001634	G	A	G149001634A	SH3TC2	NM_024577.3(SH3TC2):c.*3077C>T	noncoding	Benign
5	149001755	G	A	G149001755A	SH3TC2	NM_024577.3(SH3TC2):c.*2956C>T	noncoding	Benign
5	149001811	C	A	C149001811A	SH3TC2	NM_024577.3(SH3TC2):c.*2900G>T	noncoding	Benign
5	149001849	C	T	C149001849T	SH3TC2	NM_024577.3(SH3TC2):c.*2862G>A	noncoding	Benign
5	149002283	G	A	G149002283A	SH3TC2	NM_024577.3(SH3TC2):c.*2428C>T	noncoding	Benign
5	149002314	C	T	C149002314T	SH3TC2	NM_024577.3(SH3TC2):c.*2397G>A	noncoding	Benign
5	149002474	C	T	C149002474T	SH3TC2	NM_024577.4(SH3TC2):c.*2237G>A	noncoding	Benign
5	149002776	A	G	A149002776G	SH3TC2	NM_024577.3(SH3TC2):c.*1935T>C	noncoding	Benign
5	149002802	C	A	C149002802A	SH3TC2	NM_024577.3(SH3TC2):c.*1909G>T	noncoding	Benign
5	149002961	G	A	G149002961A	SH3TC2	NM_024577.3(SH3TC2):c.*1750C>T	noncoding	Benign/Likely_benign
5	149003072	A	G	A149003072G	SH3TC2	NM_024577.3(SH3TC2):c.*1639T>C	noncoding	Benign
5	149003402	G	A	G149003402A	SH3TC2	NM_024577.3(SH3TC2):c.*1309C>T	noncoding	Benign
5	149003465	C	T	C149003465T	SH3TC2	NM_024577.4(SH3TC2):c.*1246G>A	noncoding	Benign
5	149003782	C	G	C149003782G	SH3TC2	NM_024577.3(SH3TC2):c.*929G>C	noncoding	Benign
5	149003992	C	T	C149003992T	SH3TC2	NM_024577.3(SH3TC2):c.*719G>A	noncoding	Benign
5	149004320	C	G	C149004320G	SH3TC2	NM_024577.3(SH3TC2):c.*391G>C	noncoding	Benign
5	149004589	C	A	C149004589A	SH3TC2	NM_024577.3(SH3TC2):c.*122G>T	noncoding	Benign
5	149004664	G	A	G149004664A	SH3TC2	NM_024577.3(SH3TC2):c.*47C>T	noncoding	Benign
5	149004672	T	G	T149004672G	SH3TC2	NM_024577.4(SH3TC2):c.*39A>C	noncoding	Benign
5	149004744	C	T	C149004744T	SH3TC2	NM_024577.3(SH3TC2):c.3834G>A:p.Ala1278=	coding	Benign/Likely_benign
5	149006955	G	A	G149006955A	SH3TC2	NM_024577.3(SH3TC2):c.3601C>T:p.Gln1201Ter	coding	Pathogenic
5	149006960	C	T	C149006960T	SH3TC2	NM_024577.3(SH3TC2):c.3596G>A:p.Trp1199Ter	coding	Pathogenic
5	149006962	T	C	T149006962C	SH3TC2	NM_024577.3(SH3TC2):c.3594A>G:p.Pro1198=	coding	Benign
5	149006962	T	G	T149006962G	SH3TC2	NM_024577.3(SH3TC2):c.3594A>C:p.Pro1198=	coding	Benign
5	149007085	T	C	T149007085C	SH3TC2	NM_024577.3(SH3TC2):c.3479-8A>G	noncoding	Benign/Likely_benign
5	149008857	C	T	C149008857T	SH3TC2	NM_024577.3(SH3TC2):c.3472G>A:p.Val1158Ile	coding	Benign
5	149008967	G	A	G149008967A	SH3TC2	NM_024577.3(SH3TC2):c.3362C>T:p.Ala1121Val	coding	Benign/Likely_benign
5	149009316	C	T	C149009316T	SH3TC2	NM_024577.3(SH3TC2):c.3328-315G>A	noncoding	Benign
5	149010045	G	C	G149010045C	SH3TC2	NM_024577.3(SH3TC2):c.3327+225C>G	noncoding	Benign
5	149010200	G	A	G149010200A	SH3TC2	NM_024577.3(SH3TC2):c.3327+70C>T	noncoding	Benign
5	149010272	G	A	G149010272A	SH3TC2	NM_024577.4(SH3TC2):c.3325C>T:p.Arg1109Ter	coding	Pathogenic
5	149010303	G	A	G149010303A	SH3TC2	NM_024577.3(SH3TC2):c.3294C>T:p.Thr1098=	coding	Benign/Likely_benign
5	149010530	C	T	C149010530T	SH3TC2	NM_024577.3(SH3TC2):c.3205-138G>A	noncoding	Benign
5	149012634	G	A	G149012634A	SH3TC2	NM_024577.3(SH3TC2):c.3154C>T:p.Arg1052Ter	coding	Pathogenic
5	149012799	A	G	A149012799G	SH3TC2	NM_024577.3(SH3TC2):c.3054-65T>C	noncoding	Benign
5	149012975	C	T	C149012975T	SH3TC2	NM_024577.3(SH3TC2):c.3054-241G>A	noncoding	Benign
5	149026469	C	T	C149026469T	SH3TC2	NM_024577.3(SH3TC2):c.3053+103G>A	noncoding	Benign
5	149026712	G	A	G149026712A	SH3TC2	NM_024577.3(SH3TC2):c.2913C>T:p.Ser971=	coding	Benign/Likely_benign
5	149026823	T	C	T149026823C	SH3TC2	NM_024577.3(SH3TC2):c.2872+37A>G	noncoding	Benign
5	149026851	C	T	C149026851T	SH3TC2	NM_024577.3(SH3TC2):c.2872+9G>A	noncoding	Benign
5	149026864	T	C	T149026864C	SH3TC2	NM_024577.3(SH3TC2):c.2868A>G:p.Leu956=	coding	Benign
5	149026872	G	A	G149026872A	SH3TC2	NM_024577.4(SH3TC2):c.2860C>T:p.Arg954Ter	coding	Pathogenic/Likely_pathogenic
5	149026903	A	C	A149026903C	SH3TC2	NM_024577.3(SH3TC2):c.2829T>G:p.Tyr943Ter	coding	Pathogenic
5	149027022	G	A	G149027022A	SH3TC2	NM_024577.3(SH3TC2):c.2710C>T:p.Arg904Ter	coding	Pathogenic
5	149027041	G	C	G149027041C	SH3TC2	NM_024577.3(SH3TC2):c.2691C>G:p.Asn897Lys	coding	Benign/Likely_benign
5	149027090	T	C	T149027090C	SH3TC2	NM_024577.3(SH3TC2):c.2642A>G:p.Asn881Ser	coding	Pathogenic
5	149027244	C	A	C149027244A	SH3TC2	NM_024577.3(SH3TC2):c.2488G>T:p.Glu830Ter	coding	Pathogenic
5	149027314	A	C	A149027314C	SH3TC2	NM_024577.3(SH3TC2):c.2418T>G:p.Tyr806Ter	coding	Pathogenic
5	149027410	G	A	G149027410A	SH3TC2	NM_024577.3(SH3TC2):c.2322C>T:p.Asp774=	coding	Benign
5	149027497	A	C	A149027497C	SH3TC2	NM_024577.3(SH3TC2):c.2235T>G:p.Ala745=	coding	Benign
5	149027586	G	A	G149027586A	SH3TC2	NM_024577.3(SH3TC2):c.2146C>T:p.Gln716Ter	coding	Pathogenic
5	149027604	G	A	G149027604A	SH3TC2	NM_024577.3(SH3TC2):c.2128C>T:p.Gln710Ter	coding	Pathogenic
5	149027635	C	T	C149027635T	SH3TC2	NM_024577.4(SH3TC2):c.2097G>A:p.Gln699=	coding	Benign/Likely_benign
5	149027637	G	A	G149027637A	SH3TC2	NM_024577.4(SH3TC2):c.2095C>T:p.Gln699Ter	coding	Pathogenic
5	149027645	T	C	T149027645C	SH3TC2	NM_024577.3(SH3TC2):c.2087A>G:p.His696Arg	coding	Benign
5	149027754	G	A	G149027754A	SH3TC2	NM_024577.3(SH3TC2):c.1978C>T:p.Gln660Ter	coding	Pathogenic
5	149027760	G	A	G149027760A	SH3TC2	NM_024577.3(SH3TC2):c.1972C>T:p.Arg658Cys	coding	Pathogenic/Likely_pathogenic
5	149027763	C	T	C149027763T	SH3TC2	NM_024577.3(SH3TC2):c.1969G>A:p.Glu657Lys	coding	Pathogenic
5	149027890	G	A	G149027890A	SH3TC2	NM_024577.3(SH3TC2):c.1842C>T:p.Asp614=	coding	Benign/Likely_benign
5	149028079	G	A	G149028079A	SH3TC2	NM_024577.3(SH3TC2):c.1653C>T:p.Phe551=	coding	Benign/Likely_benign
5	149028145	A	C	A149028145C	SH3TC2	NM_024577.3(SH3TC2):c.1587T>G:p.Arg529=	coding	Benign
5	149028259	G	A	G149028259A	SH3TC2	NM_024577.3(SH3TC2):c.1473C>T:p.Phe491=	coding	Benign/Likely_benign
5	149028289	G	A	G149028289A	SH3TC2	NM_024577.3(SH3TC2):c.1443C>T:p.Asp481=	coding	Benign/Likely_benign
5	149028330	C	A	C149028330A	SH3TC2	NM_024577.3(SH3TC2):c.1402G>T:p.Ala468Ser	coding	Benign
5	149028354	G	A	G149028354A	SH3TC2	NM_024577.3(SH3TC2):c.1378C>T:p.Gln460Ter	coding	Pathogenic
5	149028381	C	A	C149028381A	SH3TC2	NM_024577.3(SH3TC2):c.1351G>T:p.Glu451Ter	coding	Pathogenic
5	149028382	C	T	C149028382T	SH3TC2	NM_024577.3(SH3TC2):c.1350G>A:p.Pro450=	coding	Benign
5	149028433	C	T	C149028433T	SH3TC2	NM_024577.3(SH3TC2):c.1299G>A:p.Ser433=	coding	Benign/Likely_benign
5	149028538	A	G	A149028538G	SH3TC2	NM_024577.3(SH3TC2):c.1194T>C:p.Gly398=	coding	Benign
5	149028667	C	T	C149028667T	SH3TC2	NM_024577.3(SH3TC2):c.1177+10G>A	noncoding	Benign/Likely_benign
5	149031357	A	C	A149031357C	SH3TC2	NM_024577.3(SH3TC2):c.1135+197T>G	noncoding	Benign
5	149031806	C	T	C149031806T	SH3TC2	NM_024577.3(SH3TC2):c.1002-119G>A	noncoding	Benign
5	149038402	G	A	G149038402A	SH3TC2	NM_024577.3(SH3TC2):c.894C>T:p.Ile298=	coding	Benign/Likely_benign
5	149040602	A	G	A149040602G	SH3TC2	NM_024577.4(SH3TC2):c.805+2T>C	noncoding	Pathogenic/Likely_pathogenic
5	149041589	G	A	G149041589A	SH3TC2	NM_024577.3(SH3TC2):c.558C>T:p.Ser186=	coding	Benign/Likely_benign
5	149041619	T	A	T149041619A	SH3TC2	NM_024577.4(SH3TC2):c.530-2A>T	noncoding	Pathogenic
5	149042516	G	A	G149042516A	SH3TC2	NM_024577.3(SH3TC2):c.529+178C>T	noncoding	Benign
5	149042711	C	T	C149042711T	SH3TC2	NM_024577.3(SH3TC2):c.512G>A:p.Gly171Glu	coding	Benign
5	149042727	C	A	C149042727A	SH3TC2	NM_024577.3(SH3TC2):c.496G>T:p.Glu166Ter	coding	Pathogenic/Likely_pathogenic
5	149042746	A	T	A149042746T	SH3TC2	NM_024577.3(SH3TC2):c.477T>A:p.Ser159=	coding	Benign
5	149043032	A	G	A149043032G	SH3TC2	NM_024577.3(SH3TC2):c.386-195T>C	noncoding	Benign
5	149044543	G	T	G149044543T	SH3TC2	NM_024577.4(SH3TC2):c.375C>A:p.Tyr125Ter	coding	Pathogenic
5	149047862	C	T	C149047862T	SH3TC2	NM_024577.3(SH3TC2):c.279G>A:p.Lys93=	coding	Pathogenic
5	149047903	C	T	C149047903T	SH3TC2	NM_024577.3(SH3TC2):c.238G>A:p.Ala80Thr	coding	Benign/Likely_benign
5	149047930	G	A	G149047930A	SH3TC2	NM_024577.3(SH3TC2):c.211C>T:p.Gln71Ter	coding	Pathogenic
5	149047953	C	T	C149047953T	SH3TC2	NM_024577.3(SH3TC2):c.188G>A:p.Arg63Lys	coding	Benign/Likely_benign
5	149052235	C	A	C149052235A	SH3TC2	NM_024577.3(SH3TC2):c.58G>T:p.Glu20Ter	coding	Pathogenic
5	149052401	G	A	G149052401A	SH3TC2	NM_024577.3(SH3TC2):c.53-161C>T	noncoding	Benign
5	149052498	C	A	C149052498A	SH3TC2	NM_024577.3(SH3TC2):c.53-258G>T	noncoding	Benign
5	149062732	G	A	G149062732A	SH3TC2	NM_024577.3(SH3TC2):c.52+239C>T	noncoding	Benign
5	149062734	C	T	C149062734T	SH3TC2	NM_024577.3(SH3TC2):c.52+237G>A	noncoding	Benign
5	149063022	T	C	T149063022C	SH3TC2	NM_024577.3(SH3TC2):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
5	149063517	T	C	T149063517C	SH3TC2	NM_024577.3(SH3TC2):c.-495A>G	noncoding	Benign
5	149200412	G	A	G149200412A	ABLIM3	NM_001301015.3(ABLIM3):c.432G>A:p.Lys144=	coding	Benign
5	149242519	C	A	C149242519A	ABLIM3	NM_001301015.3(ABLIM3):c.1332C>A:p.Pro444=	coding	Benign
5	149242522	G	A	G149242522A	ABLIM3	NM_001301015.3(ABLIM3):c.1335G>A:p.Pro445=	coding	Benign
5	149374486	C	T	C149374486T	IL17B	NM_014443.3(IL17B):c.426G>A:p.Pro142=	coding	Benign
5	149379195	C	T	C149379195T	IL17B	NM_014443.3(IL17B):c.21+10G>A	noncoding	Benign
5	149820445	G	A	G149820445A	PPARGC1B	NM_133263.4(PPARGC1B):c.91G>A:p.Gly31Arg	coding	Benign
5	149826828	C	G	C149826828G	PPARGC1B	NM_133263.4(PPARGC1B):c.408C>G:p.Pro136=	coding	Benign
5	149832680	G	C	G149832680C	PPARGC1B	NM_133263.4(PPARGC1B):c.607G>C:p.Ala203Pro	coding	Benign
5	149833061	C	T	C149833061T	PPARGC1B	NM_133263.4(PPARGC1B):c.988C>T:p.Arg330Trp	coding	Benign
5	149833124	G	A	G149833124A	PPARGC1B	NM_133263.4(PPARGC1B):c.1051G>A:p.Val351Met	coding	Benign
5	149833161	C	T	C149833161T	PPARGC1B	NM_133263.4(PPARGC1B):c.1088C>T:p.Thr363Met	coding	Benign
5	149833239	C	A	C149833239A	PPARGC1B	NM_133263.4(PPARGC1B):c.1166C>A:p.Ser389Tyr	coding	Benign
5	149833572	C	T	C149833572T	PPARGC1B	NM_133263.4(PPARGC1B):c.1499C>T:p.Ser500Leu	coding	Benign
5	149833654	C	T	C149833654T	PPARGC1B	NM_133263.4(PPARGC1B):c.1581C>T:p.Asp527=	coding	Benign
5	149835343	A	G	A149835343G	PPARGC1B	NM_133263.4(PPARGC1B):c.1785A>G:p.Thr595=	coding	Benign
5	149835373	A	G	A149835373G	PPARGC1B	NM_133263.4(PPARGC1B):c.1807+8A>G	noncoding	Benign
5	149837082	A	G	A149837082G	PPARGC1B	NM_133263.4(PPARGC1B):c.2618+9A>G	noncoding	Benign
5	149840090	G	A	G149840090A	PPARGC1B	NM_133263.4(PPARGC1B):c.2668G>A:p.Ala890Thr	coding	Benign
5	149842279	T	G	T149842279G	PPARGC1B	NM_133263.4(PPARGC1B):c.2718T>G:p.Ile906Met	coding	Benign
5	149858124	C	G	C149858124G	PDE6A	NM_000440.3(PDE6A):c.*2771G>C	noncoding	Benign
5	149858126	T	G	T149858126G	PDE6A	NM_000440.3(PDE6A):c.*2769A>C	noncoding	Benign
5	149858353	C	T	C149858353T	PDE6A	NM_000440.3(PDE6A):c.*2542G>A	noncoding	Benign
5	149859175	A	T	A149859175T	PDE6A	NM_000440.3(PDE6A):c.*1720T>A	noncoding	Benign
5	149859530	C	T	C149859530T	PDE6A	NM_000440.3(PDE6A):c.*1365G>A	noncoding	Benign
5	149860287	A	G	A149860287G	PDE6A	NM_000440.3(PDE6A):c.*608T>C	noncoding	Benign
5	149863118	C	T	C149863118T	PDE6A	NM_000440.3(PDE6A):c.2506+1G>A	noncoding	Pathogenic
5	149863201	C	T	C149863201T	PDE6A	NM_000440.3(PDE6A):c.2424G>A:p.Glu808=	coding	Benign
5	149863225	G	A	G149863225A	PDE6A	NM_000440.3(PDE6A):c.2400C>T:p.Asp800=	coding	Benign
5	149866191	A	G	A149866191G	PDE6A	NM_000440.3(PDE6A):c.2337T>C:p.Phe779=	coding	Benign
5	149866226	C	A	C149866226A	PDE6A	NM_000440.3(PDE6A):c.2302G>T:p.Glu768Ter	coding	Pathogenic
5	149866227	A	G	A149866227G	PDE6A	NM_000440.3(PDE6A):c.2301T>C:p.Asp767=	coding	Benign
5	149868111	C	T	C149868111T	PDE6A	NM_000440.3(PDE6A):c.2183G>A:p.Trp728Ter	coding	Pathogenic
5	149883481	G	A	G149883481A	PDE6A	NM_000440.3(PDE6A):c.2083C>T:p.Gln695Ter	coding	Pathogenic/Likely_pathogenic
5	149883511	C	T	C149883511T	PDE6A	NM_000440.3(PDE6A):c.2053G>A:p.Val685Met	coding	Pathogenic
5	149884474	C	A	C149884474A	PDE6A	NM_000440.3(PDE6A):c.2027+5G>T	noncoding	Pathogenic
5	149884477	A	C	A149884477C	PDE6A	NM_000440.3(PDE6A):c.2027+2T>G	noncoding	Pathogenic
5	149884540	C	A	C149884540A	PDE6A	NM_000440.3(PDE6A):c.1966G>T:p.Glu656Ter	coding	Pathogenic
5	149884546	G	A	G149884546A	PDE6A	NM_000440.3(PDE6A):c.1960C>T:p.Gln654Ter	coding	Pathogenic
5	149884549	G	A	G149884549A	PDE6A	NM_000440.3(PDE6A):c.1957C>T:p.Arg653Ter	coding	Pathogenic
5	149884600	G	C	G149884600C	PDE6A	NM_000440.3(PDE6A):c.1927-21C>G	noncoding	Benign
5	149884779	C	T	C149884779T	PDE6A	NM_000440.3(PDE6A):c.1926+1G>A	noncoding	Pathogenic
5	149884863	G	A	G149884863A	PDE6A	NM_000440.3(PDE6A):c.1843C>T:p.Gln615Ter	coding	Pathogenic
5	149886312	G	A	G149886312A	PDE6A	NM_000440.3(PDE6A):c.1791C>T:p.Phe597=	coding	Benign
5	149886354	G	C	G149886354C	PDE6A	NM_000440.3(PDE6A):c.1749C>G:p.Tyr583Ter	coding	Pathogenic
5	149895228	C	T	C149895228T	PDE6A	NM_000440.3(PDE6A):c.1683G>A:p.Trp561Ter	coding	Pathogenic
5	149895237	G	C	G149895237C	PDE6A	NM_000440.3(PDE6A):c.1674C>G:p.Tyr558Ter	coding	Pathogenic
5	149895281	G	A	G149895281A	PDE6A	NM_000440.3(PDE6A):c.1630C>T:p.Arg544Trp	coding	Pathogenic/Likely_pathogenic
5	149896355	C	T	C149896355T	PDE6A	NM_000440.3(PDE6A):c.1620+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	149896778	T	C	T149896778C	PDE6A	NM_000440.3(PDE6A):c.1408-2A>G	noncoding	Pathogenic
5	149898362	C	G	C149898362G	PDE6A	NM_000440.3(PDE6A):c.1407+1G>C	noncoding	Pathogenic/Likely_pathogenic
5	149898483	C	T	C149898483T	PDE6A	NM_000440.3(PDE6A):c.1287G>A:p.Trp429Ter	coding	Pathogenic
5	149899467	C	T	C149899467T	PDE6A	NM_000440.3(PDE6A):c.1171G>A:p.Val391Met	coding	Benign/Likely_benign
5	149907310	A	T	A149907310T	PDE6A	NM_000440.3(PDE6A):c.1065+2T>A	noncoding	Pathogenic/Likely_pathogenic
5	149907323	G	A	G149907323A	PDE6A	NM_000440.3(PDE6A):c.1054C>T:p.Gln352Ter	coding	Pathogenic
5	149907345	G	T	G149907345T	PDE6A	NM_000440.3(PDE6A):c.1032C>A:p.Ser344Arg	coding	Pathogenic
5	149907360	A	G	A149907360G	PDE6A	NM_000440.3(PDE6A):c.1017T>C:p.His339=	coding	Benign/Likely_benign
5	149914932	G	A	G149914932A	PDE6A	NM_000440.3(PDE6A):c.998+11C>T	noncoding	Benign/Likely_benign
5	149914942	C	T	C149914942T	PDE6A	NM_000440.3(PDE6A):c.998+1G>A	noncoding	Pathogenic
5	149921660	G	C	G149921660C	PDE6A	NM_000440.3(PDE6A):c.908C>G:p.Ser303Cys	coding	Benign/Likely_benign
5	149931070	A	T	A149931070T	PDE6A	NM_000440.3(PDE6A):c.816T>A:p.Cys272Ter	coding	Pathogenic/Likely_pathogenic
5	149931117	G	A	G149931117A	PDE6A	NM_000440.3(PDE6A):c.769C>T:p.Arg257Ter	coding	Pathogenic
5	149944209	G	A	G149944209A	PDE6A	NM_000440.3(PDE6A):c.465C>T:p.Asn155=	coding	Benign
5	149944218	G	A	G149944218A	PDE6A	NM_000440.3(PDE6A):c.456C>T:p.Asn152=	coding	Benign
5	149944241	C	T	C149944241T	PDE6A	NM_000440.3(PDE6A):c.433G>A:p.Ala145Thr	coding	Benign
5	149944343	T	G	T149944343G	PDE6A	NM_000440.3(PDE6A):c.331A>C:p.Arg111=	coding	Benign
5	149944370	G	A	G149944370A	PDE6A	NM_000440.3(PDE6A):c.304C>T:p.Arg102Cys	coding	Pathogenic/Likely_pathogenic
5	149944497	T	C	T149944497C	PDE6A	NM_000440.3(PDE6A):c.177A>G:p.Glu59=	coding	Benign
5	149944590	G	A	G149944590A	PDE6A	NM_000440.3(PDE6A):c.84C>T:p.Tyr28=	coding	Benign/Likely_benign
5	149944636	A	T	A149944636T	PDE6A	NM_000440.3(PDE6A):c.38T>A:p.Leu13Gln	coding	Pathogenic
5	149960981	T	C	T149960981C	SLC26A2	NM_000112.3(SLC26A2):c.-26+2T>C	noncoding	Pathogenic
5	149977400	G	A	G149977400A	SLC26A2	NM_000112.3(SLC26A2):c.-25-228G>A	noncoding	Benign
5	149977497	A	G	A149977497G	SLC26A2	NM_000112.3(SLC26A2):c.-25-131A>G	noncoding	Benign
5	149978026	A	T	A149978026T	SLC26A2	NM_000112.3(SLC26A2):c.374A>T:p.Gln125Leu	coding	Pathogenic
5	149978050	C	T	C149978050T	SLC26A2	NM_000112.3(SLC26A2):c.398C>T:p.Ala133Val	coding	Pathogenic
5	149978120	C	T	C149978120T	SLC26A2	NM_000112.3(SLC26A2):c.468C>T:p.Thr156=	coding	Benign/Likely_benign
5	149978184	C	T	C149978184T	SLC26A2	NM_000112.3(SLC26A2):c.532C>T:p.Arg178Ter	coding	Pathogenic
5	149978307	A	G	A149978307G	SLC26A2	NM_000112.3(SLC26A2):c.655A>G:p.Ile219Val	coding	Benign/Likely_benign
5	149978349	C	T	C149978349T	SLC26A2	NM_000112.3(SLC26A2):c.697C>T:p.Gln233Ter	coding	Pathogenic
5	149978353	T	C	T149978353C	SLC26A2	NM_000112.3(SLC26A2):c.699+2T>C	noncoding	Pathogenic
5	149980062	G	C	G149980062C	SLC26A2	NM_000112.3(SLC26A2):c.700-231G>C	noncoding	Benign
5	149980428	C	T	C149980428T	SLC26A2	NM_000112.4(SLC26A2):c.835C>T:p.Arg279Trp	coding	Pathogenic
5	149980653	G	T	G149980653T	SLC26A2	NM_000112.3(SLC26A2):c.1060G>T:p.Glu354Ter	coding	Pathogenic/Likely_pathogenic
5	149980866	A	G	A149980866G	SLC26A2	NM_000112.3(SLC26A2):c.1273A>G:p.Asn425Asp	coding	Pathogenic
5	149980936	C	G	C149980936G	SLC26A2	NM_000112.4(SLC26A2):c.1343C>G:p.Ser448Ter	coding	Pathogenic
5	149980954	A	C	A149980954C	SLC26A2	NM_000112.3(SLC26A2):c.1361A>C:p.Gln454Pro	coding	Pathogenic
5	149981003	A	G	A149981003G	SLC26A2	NM_000112.3(SLC26A2):c.1410A>G:p.Val470=	coding	Benign/Likely_benign
5	149981067	C	T	C149981067T	SLC26A2	NM_000112.3(SLC26A2):c.1474C>T:p.Arg492Trp	coding	Benign/Likely_benign
5	149981128	C	A	C149981128A	SLC26A2	NM_000112.3(SLC26A2):c.1535C>A:p.Thr512Lys	coding	Pathogenic
5	149981158	C	T	C149981158T	SLC26A2	NM_000112.3(SLC26A2):c.1565C>T:p.Ser522Phe	coding	Pathogenic
5	149981240	A	G	A149981240G	SLC26A2	NM_000112.4(SLC26A2):c.1647A>G:p.Pro549=	coding	Benign
5	149981300	C	G	C149981300G	SLC26A2	NM_000112.3(SLC26A2):c.1707C>G:p.Tyr569Ter	coding	Pathogenic/Likely_pathogenic
5	149981314	T	C	T149981314C	SLC26A2	NM_000112.3(SLC26A2):c.1721T>C:p.Ile574Thr	coding	Benign
5	149981370	G	T	G149981370T	SLC26A2	NM_000112.4(SLC26A2):c.1777G>T:p.Glu593Ter	coding	Pathogenic
5	149981550	T	A	T149981550A	SLC26A2	NM_000112.3(SLC26A2):c.1957T>A:p.Cys653Ser	coding	Pathogenic/Likely_pathogenic
5	149981658	A	T	A149981658T	SLC26A2	NM_000112.3(SLC26A2):c.2065A>T:p.Thr689Ser	coding	Benign
5	149981813	A	G	A149981813G	SLC26A2	NM_000112.3(SLC26A2):c.2220A>G:p.Ter740=	coding	Benign/Likely_benign
5	149982207	T	A	T149982207A	SLC26A2	NM_000112.3(SLC26A2):c.*394T>A	noncoding	Benign/Likely_benign
5	149982403	C	T	C149982403T	SLC26A2	NM_000112.3(SLC26A2):c.*590C>T	noncoding	Benign
5	149982413	G	T	G149982413T	SLC26A2	NM_000112.3(SLC26A2):c.*600G>T	noncoding	Benign/Likely_benign
5	149982751	T	C	T149982751C	SLC26A2	NM_000112.3(SLC26A2):c.*938T>C	noncoding	Benign/Likely_benign
5	149982837	T	G	T149982837G	SLC26A2	NM_000112.3(SLC26A2):c.*1024T>G	noncoding	Benign
5	149983365	G	C	G149983365C	SLC26A2	NM_000112.3(SLC26A2):c.*1552G>C	noncoding	Benign/Likely_benign
5	149983444	C	T	C149983444T	SLC26A2	NM_000112.3(SLC26A2):c.*1631C>T	noncoding	Benign
5	149984039	C	T	C149984039T	SLC26A2	NM_000112.3(SLC26A2):c.*2226C>T	noncoding	Benign
5	149985217	C	T	C149985217T	SLC26A2	NM_000112.3(SLC26A2):c.*3404C>T	noncoding	Benign
5	149985279	C	G	C149985279G	SLC26A2	NM_000112.3(SLC26A2):c.*3466C>G	noncoding	Benign/Likely_benign
5	149985483	G	A	G149985483A	SLC26A2	NM_000112.3(SLC26A2):c.*3670G>A	noncoding	Benign
5	149986204	G	T	G149986204T	SLC26A2	NM_000112.3(SLC26A2):c.*4391G>T	noncoding	Benign/Likely_benign
5	149986273	G	T	G149986273T	SLC26A2	NM_000112.3(SLC26A2):c.*4460G>T	noncoding	Benign
5	149986795	A	G	A149986795G	SLC26A2	NM_000112.3(SLC26A2):c.*4982A>G	noncoding	Benign
5	149987151	T	C	T149987151C	SLC26A2	NM_000112.3(SLC26A2):c.*5338T>C	noncoding	Benign
5	149987366	G	A	G149987366A	SLC26A2	NM_000112.3(SLC26A2):c.*5553G>A	noncoding	Benign
5	150010405	G	A	G150010405A	HMGXB3	NM_014983.3(HMGXB3):c.607G>A:p.Glu203Lys	coding	Benign
5	150012282	C	T	C150012282T	HMGXB3	NM_014983.3(HMGXB3):c.838C>T:p.Pro280Ser	coding	Benign
5	150024630	C	T	C150024630T	HMGXB3	NM_014983.3(HMGXB3):c.1410C>T:p.Ser470=	coding	Benign
5	150030756	T	A	T150030756A	HMGXB3	NM_014983.3(HMGXB3):c.1750T>A:p.Ser584Thr	coding	Benign
5	150053295	T	C	T150053295C	CSF1R	NM_005211.3(CSF1R):c.*774A>G	noncoding	Benign
5	150053300	T	C	T150053300C	CSF1R	NM_005211.3(CSF1R):c.*769A>G	noncoding	Benign
5	150053465	T	C	T150053465C	CSF1R	NM_005211.3(CSF1R):c.*604A>G	noncoding	Benign
5	150053537	C	T	C150053537T	CSF1R	NM_001288705.3(CSF1R):c.*532G>A	noncoding	Benign
5	150053557	A	G	A150053557G	CSF1R	NM_005211.3(CSF1R):c.*512T>C	noncoding	Benign
5	150053569	G	A	G150053569A	CSF1R	NM_005211.3(CSF1R):c.*500C>T	noncoding	Benign
5	150053664	C	G	C150053664G	CSF1R	NM_005211.3(CSF1R):c.*405G>C	noncoding	Benign
5	150053759	G	T	G150053759T	CSF1R	NM_005211.3(CSF1R):c.*310C>A	noncoding	Benign
5	150053838	G	C	G150053838C	CSF1R	NM_005211.3(CSF1R):c.*231C>G	noncoding	Benign
5	150053848	G	A	G150053848A	CSF1R	NM_001288705.3(CSF1R):c.*221C>T	noncoding	Benign
5	150053870	T	C	T150053870C	CSF1R	NM_005211.3(CSF1R):c.*199A>G	noncoding	Benign
5	150054005	G	A	G150054005A	CSF1R	NM_005211.3(CSF1R):c.*64C>T	noncoding	Benign
5	150054033	T	G	T150054033G	CSF1R	NM_005211.3(CSF1R):c.*36A>C	noncoding	Benign
5	150054034	G	A	G150054034A	CSF1R	NM_005211.3(CSF1R):c.*35C>T	noncoding	Benign
5	150054126	G	A	G150054126A	CSF1R	NM_005211.3(CSF1R):c.2862C>T:p.Cys954=	coding	Benign
5	150054147	A	G	A150054147G	CSF1R	NM_001288705.3(CSF1R):c.2841T>C:p.Ser947=	coding	Benign
5	150054183	G	A	G150054183A	CSF1R	NM_005211.3(CSF1R):c.2805C>T:p.Ser935=	coding	Benign
5	150054189	A	G	A150054189G	CSF1R	NM_005211.3(CSF1R):c.2799T>C:p.Gly933=	coding	Benign
5	150054323	C	G	C150054323G	CSF1R	NM_005211.3(CSF1R):c.2762G>C:p.Arg921Pro	coding	Benign
5	150054324	G	A	G150054324A	CSF1R	NM_005211.3(CSF1R):c.2761C>T:p.Arg921Trp	coding	Benign
5	150054325	C	G	C150054325G	CSF1R	NM_005211.3(CSF1R):c.2760G>C:p.Glu920Asp	coding	Benign/Likely_benign
5	150054339	C	T	C150054339T	CSF1R	NM_005211.3(CSF1R):c.2746G>A:p.Glu916Lys	coding	Benign/Likely_benign
5	150054368	A	G	A150054368G	CSF1R	NM_005211.3(CSF1R):c.2717T>C:p.Ile906Thr	coding	Pathogenic
5	150054376	G	A	G150054376A	CSF1R	NM_005211.3(CSF1R):c.2709C>T:p.Phe903=	coding	Benign
5	150054384	G	A	G150054384A	CSF1R	NM_005211.3(CSF1R):c.2701C>T:p.Pro901Ser	coding	Pathogenic
5	150054432	T	C	T150054432C	CSF1R	NM_005211.3(CSF1R):c.2655-2A>G	noncoding	Pathogenic
5	150055259	G	T	G150055259T	CSF1R	NM_005211.3(CSF1R):c.2632C>A:p.Pro878Thr	coding	Pathogenic
5	150055267	A	G	A150055267G	CSF1R	NM_005211.3(CSF1R):c.2624T>C:p.Met875Thr	coding	Pathogenic
5	150055288	A	G	A150055288G	CSF1R	NM_005211.3(CSF1R):c.2603T>C:p.Leu868Pro	coding	Pathogenic
5	150055325	A	G	A150055325G	CSF1R	NM_005211.3(CSF1R):c.2566T>C:p.Tyr856His	coding	Pathogenic
5	150056034	A	G	A150056034G	CSF1R	NM_005211.3(CSF1R):c.2546T>C:p.Phe849Ser	coding	Pathogenic
5	150056045	G	C	G150056045C	CSF1R	NM_005211.3(CSF1R):c.2535C>G:p.Leu845=	coding	Benign
5	150056052	A	T	A150056052T	CSF1R	NM_005211.3(CSF1R):c.2528T>A:p.Ile843Asn	coding	Pathogenic
5	150056053	T	A	T150056053A	CSF1R	NM_005211.3(CSF1R):c.2527A>T:p.Ile843Phe	coding	Pathogenic
5	150056068	C	G	C150056068G	CSF1R	NM_005211.3(CSF1R):c.2512G>C:p.Val838Leu	coding	Pathogenic
5	150056071	C	A	C150056071A	CSF1R	NM_005211.3(CSF1R):c.2509G>T:p.Asp837Tyr	coding	Pathogenic
5	150056081	C	T	C150056081T	CSF1R	NM_005211.3(CSF1R):c.2499G>A:p.Thr833=	coding	Benign
5	150056097	A	G	A150056097G	CSF1R	NM_005211.3(CSF1R):c.2483T>C:p.Phe828Ser	coding	Pathogenic
5	150056100	A	G	A150056100G	CSF1R	NM_005211.3(CSF1R):c.2480T>C:p.Ile827Thr	coding	Pathogenic
5	150056112	G	A	G150056112A	CSF1R	NM_005211.3(CSF1R):c.2467C>T	coding	Pathogenic
5	150056130	A	G	A150056130G	CSF1R	NM_005211.3(CSF1R):c.2450T>C:p.Leu817Pro	coding	Pathogenic
5	150056214	C	G	C150056214G	CSF1R	NM_005211.3(CSF1R):c.2442+5G>C	noncoding	Pathogenic
5	150056218	C	A	C150056218A	CSF1R	NM_005211.3(CSF1R):c.2442+1G>T	noncoding	Pathogenic
5	150056280	A	G	A150056280G	CSF1R	NM_005211.3(CSF1R):c.2381T>C:p.Ile794Thr	coding	Pathogenic
5	150056283	T	G	T150056283G	CSF1R	NM_005211.3(CSF1R):c.2378A>C:p.Lys793Thr	coding	Pathogenic
5	150056311	C	T	C150056311T	CSF1R	NM_005211.3(CSF1R):c.2350G>A:p.Val784Met	coding	Pathogenic
5	150056316	C	T	C150056316T	CSF1R	NM_005211.3(CSF1R):c.2345G>A:p.Arg782His	coding	Pathogenic
5	150056319	G	A	G150056319A	CSF1R	NM_005211.3(CSF1R):c.2342C>T:p.Ala781Val	coding	Pathogenic
5	150056319	G	T	G150056319T	CSF1R	NM_005211.3(CSF1R):c.2342C>A:p.Ala781Glu	coding	Pathogenic
5	150056331	C	T	C150056331T	CSF1R	NM_005211.3(CSF1R):c.2330G>A:p.Arg777Gln	coding	Pathogenic
5	150056332	G	A	G150056332A	CSF1R	NM_005211.3(CSF1R):c.2329C>T:p.Arg777Trp	coding	Pathogenic
5	150056337	A	T	A150056337T	CSF1R	NM_005211.3(CSF1R):c.2324T>A:p.Ile775Asn	coding	Pathogenic
5	150056343	T	C	T150056343C	CSF1R	NM_005211.3(CSF1R):c.2320-2A>G	noncoding	Pathogenic
5	150057298	C	G	C150057298G	CSF1R	NM_005211.3(CSF1R):c.2308G>C:p.Ala770Pro	coding	Pathogenic
5	150057309	A	G	A150057309G	CSF1R	NM_005211.3(CSF1R):c.2297T>C:p.Met766Thr	coding	Pathogenic
5	150057312	C	T	C150057312T	CSF1R	NM_005211.3(CSF1R):c.2294G>A:p.Gly765Asp	coding	Pathogenic
5	150057367	C	T	C150057367T	CSF1R	NM_005211.3(CSF1R):c.2239G>A:p.Gly747Arg	coding	Benign/Likely_benign
5	150059695	G	A	G150059695A	CSF1R	NM_005211.3(CSF1R):c.2132+5C>T	noncoding	Benign
5	150059703	C	T	C150059703T	CSF1R	NM_001288705.3(CSF1R):c.2129G>A:p.Arg710His	coding	Benign
5	150060861	C	T	C150060861T	CSF1R	NM_001288705.3(CSF1R):c.1969+1G>A	noncoding	Pathogenic
5	150060873	C	T	C150060873T	CSF1R	NM_005211.3(CSF1R):c.1958G>A:p.Cys653Tyr	coding	Pathogenic
5	150060874	A	G	A150060874G	CSF1R	NM_005211.3(CSF1R):c.1957T>C:p.Cys653Arg	coding	Pathogenic
5	150060902	G	A	G150060902A	CSF1R	NM_005211.3(CSF1R):c.1929C>T:p.His643=	coding	Benign
5	150060902	G	T	G150060902T	CSF1R	NM_005211.3(CSF1R):c.1929C>A:p.His643Gln	coding	Pathogenic
5	150060934	C	T	C150060934T	CSF1R	NM_005211.3(CSF1R):c.1897G>A:p.Glu633Lys	coding	Pathogenic
5	150060942	A	C	A150060942C	CSF1R	NM_005211.3(CSF1R):c.1889T>G:p.Leu630Arg	coding	Pathogenic
5	150061091	C	T	C150061091T	CSF1R	NM_005211.3(CSF1R):c.1859-119G>A	noncoding	Pathogenic
5	150061583	C	T	C150061583T	CSF1R	NM_005211.3(CSF1R):c.1766G>A:p.Gly589Glu	coding	Pathogenic
5	150061596	C	G	C150061596G	CSF1R	NM_005211.3(CSF1R):c.1754-1G>C	coding	Pathogenic
5	150061597	T	C	T150061597C	CSF1R	NM_005211.3(CSF1R):c.1754-2A>G	noncoding	Pathogenic
5	150061716	A	G	A150061716G	CSF1R	NM_001288705.3(CSF1R):c.1753+7T>C	noncoding	Benign
5	150061731	A	G	A150061731G	CSF1R	NM_005211.3(CSF1R):c.1745T>C:p.Leu582Pro	coding	Pathogenic
5	150061748	C	T	C150061748T	CSF1R	NM_001288705.3(CSF1R):c.1728G>A:p.Glu576=	coding	Benign
5	150061775	C	T	C150061775T	CSF1R	NM_005211.3(CSF1R):c.1701G>A:p.Thr567=	coding	Benign
5	150061827	C	T	C150061827T	CSF1R	NM_001288705.3(CSF1R):c.1649G>A:p.Trp550Ter	coding	Pathogenic
5	150068203	G	A	G150068203A	CSF1R	NM_005211.3(CSF1R):c.1626+12C>T	noncoding	Benign
5	150068208	G	A	G150068208A	CSF1R	NM_005211.3(CSF1R):c.1626+7C>T	noncoding	Benign
5	150068212	C	T	C150068212T	CSF1R	NM_005211.3(CSF1R):c.1626+3G>A	noncoding	Benign/Likely_benign
5	150068235	G	C	G150068235C	CSF1R	NM_005211.3(CSF1R):c.1606C>G:p.Leu536Val	coding	Benign/Likely_benign
5	150068289	C	T	C150068289T	CSF1R	NM_001288705.3(CSF1R):c.1552G>A:p.Val518Met	coding	Benign
5	150069942	G	A	G150069942A	CSF1R	NM_005211.3(CSF1R):c.1441C>T:p.Gln481Ter	coding	Pathogenic
5	150069979	C	T	C150069979T	CSF1R	NM_005211.3(CSF1R):c.1404G>A:p.Val468=	coding	Benign
5	150070264	C	T	C150070264T	CSF1R	NM_005211.3(CSF1R):c.1237G>A:p.Gly413Ser	coding	Benign
5	150070285	C	T	C150070285T	CSF1R	NM_001288705.3(CSF1R):c.1216G>A:p.Val406Ile	coding	Benign
5	150070569	T	C	T150070569C	CSF1R	NM_005211.3(CSF1R):c.1085A>G:p.His362Arg	coding	Benign
5	150070579	A	G	A150070579G	CSF1R	NM_005211.3(CSF1R):c.1083-8T>C	noncoding	Benign
5	150073440	C	T	C150073440T	CSF1R	NM_001288705.3(CSF1R):c.943G>A:p.Val315Met	coding	Benign
5	150077284	C	T	C150077284T	CSF1R	NM_005211.3(CSF1R):c.881G>A:p.Arg294Gln	coding	Benign
5	150077330	C	T	C150077330T	CSF1R	NM_005211.3(CSF1R):c.835G>A:p.Val279Met	coding	Benign
5	150077363	C	T	C150077363T	CSF1R	NM_005211.3(CSF1R):c.802G>A:p.Val268Ile	coding	Benign/Likely_benign
5	150077401	T	A	T150077401A	CSF1R	NM_005211.3(CSF1R):c.764A>T:p.Asn255Ile	coding	Benign/Likely_benign
5	150077432	C	A	C150077432A	CSF1R	NM_005211.3(CSF1R):c.733G>T:p.Ala245Ser	coding	Benign
5	150078115	G	A	G150078115A	CSF1R	NM_005211.3(CSF1R):c.726C>T:p.Thr242=	coding	Benign
5	150078120	T	C	T150078120C	CSF1R	NM_005211.3(CSF1R):c.721A>G:p.Asn241Asp	coding	Benign
5	150078257	G	A	G150078257A	CSF1R	NM_005211.3(CSF1R):c.593-9C>T	noncoding	Benign/Likely_benign
5	150080187	T	G	T150080187G	CSF1R	NM_001288705.3(CSF1R):c.457A>C:p.Asn153His	coding	Benign
5	150080227	C	T	C150080227T	CSF1R	NM_001288705.3(CSF1R):c.417G>A:p.Ser139=	coding	Benign
5	150080249	G	A	G150080249A	CSF1R	NM_005211.3(CSF1R):c.395C>T:p.Pro132Leu	coding	Pathogenic
5	150080276	G	C	G150080276C	CSF1R	NM_001288705.3(CSF1R):c.368C>G:p.Ala123Gly	coding	Benign
5	150080780	G	A	G150080780A	CSF1R	NM_005211.3(CSF1R):c.294C>T:p.His98=	coding	Benign
5	150080792	G	A	G150080792A	CSF1R	NM_005211.3(CSF1R):c.282C>T:p.Ser94=	coding	Benign/Likely_benign
5	150080806	G	T	G150080806T	CSF1R	NM_005211.3(CSF1R):c.268C>A:p.Pro90Thr	coding	Benign
5	150080849	G	A	G150080849A	CSF1R	NM_005211.3(CSF1R):c.225C>T:p.Thr75=	coding	Benign
5	150080850	G	A	G150080850A	CSF1R	NM_005211.3(CSF1R):c.224C>T:p.Thr75Ile	coding	Benign/Likely_benign
5	150080882	G	A	G150080882A	CSF1R	NM_005211.3(CSF1R):c.192C>T:p.Gly64=	coding	Benign
5	150080896	G	A	G150080896A	CSF1R	NM_005211.3(CSF1R):c.178C>T:p.Leu60=	coding	Benign
5	150080979	A	C	A150080979C	CSF1R	NM_005211.3(CSF1R):c.95T>G:p.Val32Gly	coding	Benign/Likely_benign
5	150080990	A	G	A150080990G	CSF1R	NM_005211.3(CSF1R):c.84T>C:p.Pro28=	coding	Benign
5	150086452	A	T	A150086452T	CSF1R	NM_005211.3(CSF1R):c.-25T>A	noncoding	Benign
5	150113267	C	T	C150113267T	CSF1R	NM_005211.3(CSF1R):c.-187G>A	noncoding	Benign
5	150113329	C	T	C150113329T	CSF1R	NM_005211.3(CSF1R):c.-249G>A	noncoding	Benign
5	150115797	G	A	G150115797A	PDGFRB	NM_002609.4(PDGFRB):c.3287C>T:p.Ala1096Val	coding	Benign/Likely_benign
5	150115814	C	T	C150115814T	PDGFRB	NM_002609.4(PDGFRB):c.3270G>A:p.Pro1090=	coding	Benign
5	150115832	T	C	T150115832C	PDGFRB	NM_002609.4(PDGFRB):c.3252A>G:p.Pro1084=	coding	Benign
5	150117614	T	C	T150117614C	PDGFRB	NM_002609.4(PDGFRB):c.3137+4A>G	noncoding	Benign
5	150117636	C	A	C150117636A	PDGFRB	NM_002609.4(PDGFRB):c.3119G>T:p.Gly1040Val	coding	Benign
5	150117665	G	A	G150117665A	PDGFRB	NM_002609.4(PDGFRB):c.3090C>T:p.Pro1030=	coding	Benign
5	150117796	G	A	G150117796A	PDGFRB	NM_002609.4(PDGFRB):c.2959C>T:p.Arg987Trp	coding	Pathogenic
5	150118762	G	A	G150118762A	PDGFRB	NM_002609.4(PDGFRB):c.2889C>T:p.Gly963=	coding	Benign
5	150118807	C	T	C150118807T	PDGFRB	NM_002609.4(PDGFRB):c.2844G>A:p.Arg948=	coding	Benign
5	150120094	C	T	C150120094T	PDGFRB	NM_002609.4(PDGFRB):c.2616G>A:p.Pro872=	coding	Benign
5	150120109	T	C	T150120109C	PDGFRB	NM_002609.4(PDGFRB):c.2601A>G:p.Leu867=	coding	Benign
5	150120925	T	A	T150120925A	PDGFRB	NM_002609.4(PDGFRB):c.2549A>T:p.Asp850Val	coding	Pathogenic
5	150120951	C	T	C150120951T	PDGFRB	NM_002609.4(PDGFRB):c.2523G>A:p.Lys841=	coding	Benign/Likely_benign
5	150120972	G	A	G150120972A	PDGFRB	NM_002609.4(PDGFRB):c.2502C>T:p.Ile834=	coding	Benign
5	150121204	G	A	G150121204A	PDGFRB	NM_002609.4(PDGFRB):c.2463C>T:p.Asn821=	coding	Benign
5	150123061	C	A	C150123061A	PDGFRB	NM_002609.4(PDGFRB):c.2164G>T:p.Val722Phe	coding	Benign
5	150124275	G	C	G150124275C	PDGFRB	NM_002609.4(PDGFRB):c.1998C>G:p.Asn666Lys	coding	Pathogenic
5	150124275	G	T	G150124275T	PDGFRB	NM_002609.4(PDGFRB):c.1998C>A:p.Asn666Lys	coding	Pathogenic/Likely_pathogenic
5	150124279	A	G	A150124279G	PDGFRB	NM_002609.4(PDGFRB):c.1994T>C:p.Val665Ala	coding	Pathogenic
5	150124295	G	T	G150124295T	PDGFRB	NM_002609.4(PDGFRB):c.1978C>A:p.Pro660Thr	coding	Pathogenic
5	150124300	A	G	A150124300G	PDGFRB	NM_002609.4(PDGFRB):c.1973T>C:p.Leu658Pro	coding	Pathogenic
5	150124767	A	G	A150124767G	PDGFRB	NM_002609.4(PDGFRB):c.1872T>C:p.His624=	coding	Benign
5	150124785	C	T	C150124785T	PDGFRB	NM_002609.4(PDGFRB):c.1854G>A:p.Thr618=	coding	Benign
5	150125491	C	T	C150125491T	PDGFRB	NM_002609.4(PDGFRB):c.1761G>A:p.Leu587=	coding	Benign
5	150125501	G	C	G150125501C	PDGFRB	NM_002609.4(PDGFRB):c.1751C>G:p.Pro584Arg	coding	Pathogenic
5	150125553	T	C	T150125553C	PDGFRB	NM_002609.4(PDGFRB):c.1699A>G:p.Lys567Glu	coding	Pathogenic
5	150125568	A	C	A150125568C	PDGFRB	NM_002609.4(PDGFRB):c.1684T>G:p.Tyr562Asp	coding	Pathogenic
5	150125571	G	A	G150125571A	PDGFRB	NM_002609.4(PDGFRB):c.1681C>T:p.Arg561Cys	coding	Pathogenic
5	150126581	A	T	A150126581T	PDGFRB	NM_002609.4(PDGFRB):c.1613T>A:p.Ile538Asn	coding	Pathogenic
5	150126584	G	T	G150126584T	PDGFRB	NM_002609.4(PDGFRB):c.1610C>A:p.Ala537Asp	coding	Pathogenic
5	150129747	G	A	G150129747A	PDGFRB	NM_002609.4(PDGFRB):c.1579+10C>T	noncoding	Benign
5	150129797	A	G	A150129797G	PDGFRB	NM_002609.4(PDGFRB):c.1539T>C:p.Ala513=	coding	Benign
5	150129831	C	T	C150129831T	PDGFRB	NM_002609.4(PDGFRB):c.1505G>A:p.Arg502Gln	coding	Benign
5	150129883	C	T	C150129883T	PDGFRB	NM_002609.4(PDGFRB):c.1453G>A:p.Glu485Lys	coding	Benign
5	150129899	G	A	G150129899A	PDGFRB	NM_002609.4(PDGFRB):c.1437C>T:p.Asn479=	coding	Benign
5	150129943	G	A	G150129943A	PDGFRB	NM_002609.4(PDGFRB):c.1393C>T:p.Leu465=	coding	Benign
5	150129945	G	A	G150129945A	PDGFRB	NM_002609.4(PDGFRB):c.1391C>T:p.Thr464Met	coding	Benign
5	150129960	C	T	C150129960T	PDGFRB	NM_002609.4(PDGFRB):c.1376G>A:p.Arg459His	coding	Benign
5	150131975	T	A	T150131975A	PDGFRB	NM_002609.4(PDGFRB):c.1243+4A>T	noncoding	Benign
5	150131999	G	C	G150131999C	PDGFRB	NM_002609.4(PDGFRB):c.1223C>G:p.Ser408Cys	coding	Benign
5	150132073	C	G	C150132073G	PDGFRB	NM_002609.4(PDGFRB):c.1149G>C:p.Leu383=	coding	Benign
5	150132758	C	T	C150132758T	PDGFRB	NM_002609.4(PDGFRB):c.1119G>A:p.Ser373=	coding	Benign
5	150132769	G	A	G150132769A	PDGFRB	NM_002609.4(PDGFRB):c.1108C>T:p.Arg370Cys	coding	Benign
5	150132844	G	A	G150132844A	PDGFRB	NM_002609.4(PDGFRB):c.1033C>T:p.Pro345Ser	coding	Benign/Likely_benign
5	150132931	C	T	C150132931T	PDGFRB	NM_002609.4(PDGFRB):c.946G>A:p.Val316Met	coding	Benign/Likely_benign
5	150132932	G	A	G150132932A	PDGFRB	NM_002609.4(PDGFRB):c.945C>T:p.Tyr315=	coding	Benign
5	150133926	G	A	G150133926A	PDGFRB	NM_002609.4(PDGFRB):c.714C>T:p.Ile238=	coding	Benign
5	150134791	C	T	C150134791T	PDGFRB	NM_002609.4(PDGFRB):c.590G>A:p.Arg197Lys	coding	Benign
5	150135020	C	A	C150135020A	PDGFRB	NM_002609.4(PDGFRB):c.365-4G>T	noncoding	Benign
5	150135817	G	A	G150135817A	PDGFRB	NM_002609.4(PDGFRB):c.102C>T:p.Val34=	coding	Benign
5	150135834	T	A	T150135834A	PDGFRB	NM_002609.4(PDGFRB):c.85A>T:p.Ile29Phe	coding	Benign
5	150137036	C	T	C150137036T	PDGFRB	NM_002609.4(PDGFRB):c.12G>A:p.Pro4=	coding	Benign
5	150199333	C	T	C150199333T	SLC6A7	NM_014228.5(SLC6A7):c.690C>T:p.Leu230=	coding	Benign
5	150204023	G	A	G150204023A	SLC6A7	NM_014228.5(SLC6A7):c.1317G>A:p.Leu439=	coding	Benign
5	150223026	G	A	G150223026A	CAMK2A	NM_015981.4(CAMK2A):c.1429C>T:p.His477Tyr	coding	Pathogenic
5	150228191	C	T	C150228191T	CAMK2A	NM_015981.4(CAMK2A):c.1237+1G>A	noncoding	Pathogenic
5	150250270	T	G	T150250270G	CAMK2A	NM_015981.4(CAMK2A):c.856A>C:p.Thr286Pro	coding	Pathogenic
5	150250281	T	C	T150250281C	CAMK2A	NM_015981.4(CAMK2A):c.845A>G:p.His282Arg	coding	Pathogenic
5	150250310	C	T	C150250310T	CAMK2A	NM_015981.4(CAMK2A):c.817-1G>A	coding	Pathogenic
5	150251808	G	A	G150251808A	CAMK2A	NM_015981.4(CAMK2A):c.635C>T:p.Pro212Leu	coding	Pathogenic
5	150251808	G	T	G150251808T	CAMK2A	NM_015981.4(CAMK2A):c.635C>A:p.Pro212Gln	coding	Pathogenic
5	150252032	T	A	T150252032A	CAMK2A	NM_015981.4(CAMK2A):c.548A>T:p.Glu183Val	coding	Pathogenic
5	150253456	G	A	G150253456A	CAMK2A	NM_015981.4(CAMK2A):c.502C>T:p.Gln168Ter	coding	Pathogenic
5	150256777	C	G	C150256777G	CAMK2A	NM_015981.4(CAMK2A):c.327G>C:p.Glu109Asp	coding	Pathogenic
5	150256792	C	T	C150256792T	CAMK2A	NM_015981.4(CAMK2A):c.312G>A:p.Arg104=	coding	Benign
5	150256811	A	G	A150256811G	CAMK2A	NM_015981.4(CAMK2A):c.293T>C:p.Phe98Ser	coding	Pathogenic
5	150297541	G	A	G150297541A	ARSI	NM_001012301.4(ARSI):c.1383C>T:p.Ala461=	coding	Benign
5	150297682	G	A	G150297682A	ARSI	NM_001012301.4(ARSI):c.1242C>T:p.Ala414=	coding	Benign
5	150297685	G	A	G150297685A	ARSI	NM_001012301.4(ARSI):c.1239C>T:p.Thr413=	coding	Benign
5	150297715	G	C	G150297715C	ARSI	NM_001012301.4(ARSI):c.1209C>G:p.Ser403=	coding	Benign
5	150297829	G	A	G150297829A	ARSI	NM_001012301.4(ARSI):c.1095C>T:p.Ala365=	coding	Benign
5	150298003	G	A	G150298003A	ARSI	NM_001012301.4(ARSI):c.921C>T:p.Ser307=	coding	Benign
5	150298030	A	G	A150298030G	ARSI	NM_001012301.4(ARSI):c.894T>C:p.Asn298=	coding	Benign
5	150298123	C	T	C150298123T	ARSI	NM_001012301.4(ARSI):c.801G>A:p.Val267=	coding	Benign
5	150298240	G	A	G150298240A	ARSI	NM_001012301.4(ARSI):c.684C>T:p.Pro228=	coding	Benign
5	150298255	G	A	G150298255A	ARSI	NM_001012301.4(ARSI):c.669C>T:p.His223=	coding	Benign
5	150298521	G	A	G150298521A	ARSI	NM_001012301.4(ARSI):c.403C>T:p.Leu135=	coding	Benign
5	150298546	C	T	C150298546T	ARSI	NM_001012301.4(ARSI):c.378G>A:p.Leu126=	coding	Benign
5	150302283	C	A	C150302283A	ARSI	NM_001012301.4(ARSI):c.91G>T:p.Gly31Trp	coding	Benign
5	150302287	G	A	G150302287A	ARSI	NM_001012301.4(ARSI):c.87C>T:p.Ala29=	coding	Benign
5	150357771	G	T	G150357771T	TCOF1	NM_001371623.1(TCOF1):c.25G>T:p.Glu9Ter	coding	Pathogenic
5	150357796	A	G	A150357796G	TCOF1	NM_000356.4(TCOF1):c.50A>G:p.His17Arg	coding	Pathogenic/Likely_pathogenic
5	150361169	C	T	C150361169T	TCOF1	NM_000356.4(TCOF1):c.122C>T:p.Ala41Val	coding	Benign/Likely_benign
5	150361196	A	G	A150361196G	TCOF1	NM_000356.4(TCOF1):c.149A>G:p.Tyr50Cys	coding	Pathogenic
5	150361209	A	G	A150361209G	TCOF1	NM_000356.4(TCOF1):c.162A>G:p.Gln54=	coding	Benign
5	150364243	G	A	G150364243A	TCOF1	NM_000356.4(TCOF1):c.295G>A:p.Ala99Thr	coding	Benign/Likely_benign
5	150367792	A	G	A150367792G	TCOF1	NM_000356.4(TCOF1):c.305-52A>G	noncoding	Benign
5	150368840	C	T	C150368840T	TCOF1	NM_000356.4(TCOF1):c.503C>T:p.Thr168Met	coding	Benign/Likely_benign
5	150368857	G	T	G150368857T	TCOF1	NM_001371623.1(TCOF1):c.520G>T:p.Glu174Ter	coding	Pathogenic
5	150368871	C	T	C150368871T	TCOF1	NM_000356.4(TCOF1):c.534C>T:p.Ser178=	coding	Benign
5	150369542	G	A	G150369542A	TCOF1	NM_000356.4(TCOF1):c.579G>A:p.Ala193=	coding	Benign
5	150369593	A	G	A150369593G	TCOF1	NM_001371623.1(TCOF1):c.630A>G:p.Thr210=	coding	Benign
5	150372193	G	A	G150372193A	TCOF1	NM_001371623.1(TCOF1):c.827G>A:p.Gly276Glu	coding	Benign
5	150372228	C	T	C150372228T	TCOF1	NM_000356.4(TCOF1):c.640-1946C>T	coding	Pathogenic/Likely_pathogenic
5	150374288	C	T	C150374288T	TCOF1	NM_000356.4(TCOF1):c.754C>T:p.Gln252Ter	coding	Pathogenic
5	150374302	G	A	G150374302A	TCOF1	NM_000356.4(TCOF1):c.768G>A:p.Gly256=	coding	Benign
5	150374331	G	A	G150374331A	TCOF1	NM_000356.4(TCOF1):c.797G>A:p.Ser266Asn	coding	Benign/Likely_benign
5	150374425	G	A	G150374425A	TCOF1	NM_000356.4(TCOF1):c.852+39G>A	noncoding	Benign
5	150374653	G	T	G150374653T	TCOF1	NM_000356.4(TCOF1):c.889G>T:p.Ala297Ser	coding	Benign/Likely_benign
5	150374666	C	T	C150374666T	TCOF1	NM_000356.4(TCOF1):c.902C>T:p.Ala301Val	coding	Benign
5	150374737	C	T	C150374737T	TCOF1	NM_001371623.1(TCOF1):c.1204C>T:p.Gln402Ter	coding	Pathogenic
5	150374762	C	T	C150374762T	TCOF1	NM_000356.4(TCOF1):c.998C>T:p.Ser333Leu	coding	Benign/Likely_benign
5	150374802	G	A	G150374802A	TCOF1	NM_001371623.1(TCOF1):c.1269G>A:p.Ala423=	coding	Benign
5	150374812	G	A	G150374812A	TCOF1	NM_000356.4(TCOF1):c.1047+1G>A	coding	Pathogenic
5	150374871	G	C	G150374871C	TCOF1	NM_000356.4(TCOF1):c.1047+60G>C	noncoding	Benign
5	150374956	G	A	G150374956A	TCOF1	NM_000356.4(TCOF1):c.1050G>A:p.Ala350=	coding	Benign/Likely_benign
5	150374975	C	T	C150374975T	TCOF1	NM_000356.4(TCOF1):c.1069C>T:p.Pro357Ser	coding	Benign
5	150375428	C	T	C150375428T	TCOF1	NM_000356.4(TCOF1):c.1347C>T:p.Pro449=	coding	Benign
5	150375440	G	A	G150375440A	TCOF1	NM_000356.4(TCOF1):c.1359G>A:p.Gly453=	coding	Benign
5	150375521	T	C	T150375521C	TCOF1	NM_000356.4(TCOF1):c.1440T>C:p.Asp480=	coding	Benign
5	150375730	T	C	T150375730C	TCOF1	NM_001371623.1(TCOF1):c.1714T>C:p.Leu572=	coding	Benign
5	150375777	G	T	G150375777T	TCOF1	NM_000356.4(TCOF1):c.1530G>T:p.Gly510=	coding	Benign
5	150375799	G	A	G150375799A	TCOF1	NM_000356.4(TCOF1):c.1552G>A:p.Val518Ile	coding	Benign
5	150375858	A	G	A150375858G	TCOF1	NM_000356.4(TCOF1):c.1611A>G:p.Ser537=	coding	Benign
5	150375870	G	A	G150375870A	TCOF1	NM_000356.4(TCOF1):c.1623G>A:p.Ala541=	coding	Benign
5	150376178	C	T	C150376178T	TCOF1	NM_000356.4(TCOF1):c.1759C>T:p.Gln587Ter	coding	Pathogenic
5	150376181	G	C	G150376181C	TCOF1	NM_000356.4(TCOF1):c.1762G>C:p.Ala588Pro	coding	Benign
5	150376276	T	G	T150376276G	TCOF1	NM_000356.4(TCOF1):c.1857T>G:p.Ser619Arg	coding	Benign
5	150376282	A	G	A150376282G	TCOF1	NM_000356.4(TCOF1):c.1863A>G:p.Glu621=	coding	Benign
5	150376328	C	T	C150376328T	TCOF1	NM_000356.4(TCOF1):c.1909C>T:p.Gln637Ter	coding	Pathogenic
5	150376431	T	A	T150376431A	TCOF1	NM_001371623.1(TCOF1):c.2151T>A:p.Ser717=	coding	Benign
5	150376468	C	T	C150376468T	TCOF1	NM_001371623.1(TCOF1):c.2188C>T:p.Pro730Ser	coding	Benign
5	150376525	C	T	C150376525T	TCOF1	NM_000356.4(TCOF1):c.2014C>T:p.Pro672Ser	coding	Benign
5	150379533	T	C	T150379533C	TCOF1	NM_000356.4(TCOF1):c.2429T>C:p.Val810Ala	coding	Benign
5	150379635	C	T	C150379635T	TCOF1	NM_000356.4(TCOF1):c.2531C>T:p.Pro844Leu	coding	Benign
5	150379638	C	T	C150379638T	TCOF1	NM_000356.4(TCOF1):c.2534C>T:p.Ser845Leu	coding	Benign
5	150379668	C	G	C150379668G	TCOF1	NM_000356.4(TCOF1):c.2564C>G:p.Ser855Ter	coding	Pathogenic
5	150379715	G	T	G150379715T	TCOF1	NM_000356.4(TCOF1):c.2611G>T:p.Ala871Ser	coding	Benign
5	150383035	G	A	G150383035A	TCOF1	NM_000356.4(TCOF1):c.2628+3303G>A	noncoding	Benign
5	150388004	C	T	C150388004T	TCOF1	NM_000356.4(TCOF1):c.2731C>T:p.Arg911Ter	coding	Pathogenic
5	150388012	G	A	G150388012A	TCOF1	NM_000356.4(TCOF1):c.2739G>A:p.Ser913=	coding	Benign
5	150388073	C	T	C150388073T	TCOF1	NM_000356.4(TCOF1):c.2800C>T:p.Gln934Ter	coding	Pathogenic
5	150390008	G	A	G150390008A	TCOF1	NM_001371623.1(TCOF1):c.3168G>A:p.Glu1056=	coding	Benign
5	150391998	G	A	G150391998A	TCOF1	NM_000356.4(TCOF1):c.3108G>A:p.Gln1036=	coding	Benign
5	150392011	C	T	C150392011T	TCOF1	NM_001371623.1(TCOF1):c.3352C>T:p.Gln1118Ter	coding	Pathogenic
5	150392085	C	T	C150392085T	TCOF1	NM_000356.4(TCOF1):c.3195C>T:p.Ser1065=	coding	Benign
5	150392169	C	T	C150392169T	TCOF1	NM_000356.4(TCOF1):c.3279C>T:p.His1093=	coding	Benign
5	150392717	C	G	C150392717G	TCOF1	NM_000356.4(TCOF1):c.3296C>G:p.Pro1099Arg	coding	Benign
5	150392781	G	A	G150392781A	TCOF1	NM_001371623.1(TCOF1):c.3594G>A:p.Ala1198=	coding	Benign
5	150393369	C	T	C150393369T	TCOF1	NM_000356.4(TCOF1):c.3370-3C>T	noncoding	Benign
5	150393391	T	A	T150393391A	TCOF1	NM_000356.4(TCOF1):c.3389T>A:p.Met1130Lys	coding	Benign
5	150393480	G	A	G150393480A	TCOF1	NM_000356.4(TCOF1):c.3478G>A:p.Ala1160Thr	coding	Benign/Likely_benign
5	150393553	G	C	G150393553C	TCOF1	NM_001371623.1(TCOF1):c.3784+1G>C	coding	Pathogenic
5	150396504	A	G	A150396504G	TCOF1	NM_000356.4(TCOF1):c.3773A>G:p.Lys1258Arg	coding	Benign
5	150396550	G	A	G150396550A	TCOF1	NM_000356.4(TCOF1):c.3819G>A:p.Ser1273=	coding	Benign
5	150396596	A	C	A150396596C	TCOF1	NM_000356.4(TCOF1):c.3865A>C:p.Lys1289Gln	coding	Benign
5	150396669	C	T	C150396669T	TCOF1	NM_000356.4(TCOF1):c.3938C>T:p.Ala1313Val	coding	Benign
5	150396679	C	T	C150396679T	TCOF1	NM_001371623.1(TCOF1):c.4182C>T:p.Asp1394=	coding	Benign
5	150396745	C	T	C150396745T	TCOF1	NM_001371623.1(TCOF1):c.4248C>T:p.Asp1416=	coding	Benign
5	150396781	G	T	G150396781T	TCOF1	NM_000356.4(TCOF1):c.4050G>T:p.Thr1350=	coding	Benign
5	150396792	G	C	G150396792C	TCOF1	NM_000356.4(TCOF1):c.4061G>C:p.Gly1354Ala	coding	Benign
5	150398437	A	T	A150398437T	TCOF1	NM_001371623.1(TCOF1):c.4429A>T:p.Lys1477Ter	coding	Pathogenic
5	150398559	C	A	C150398559A	TCOF1	NM_000356.4(TCOF1):c.4209+108C>A	noncoding	Benign
5	150399036	G	A	G150399036A	TCOF1	NM_000356.4(TCOF1):c.4224G>A:p.Glu1408=	coding	Benign
5	150527830	G	A	G150527830A	NDST1	NM_001543.5(NDST1):c.540G>A:p.Ala180=	coding	Benign
5	150528067	T	C	T150528067C	NDST1	NM_001543.5(NDST1):c.777T>C:p.His259=	coding	Benign
5	150528217	A	G	A150528217G	NDST1	NM_001543.5(NDST1):c.927A>G:p.Pro309=	coding	Benign
5	150528256	C	T	C150528256T	NDST1	NM_001543.5(NDST1):c.966C>T:p.Phe322=	coding	Benign
5	150535840	G	A	G150535840A	NDST1	NM_001543.5(NDST1):c.1392G>A:p.Leu464=	coding	Benign
5	150539233	C	T	C150539233T	NDST1	NM_001543.5(NDST1):c.1443C>T:p.Leu481=	coding	Benign
5	150539248	C	T	C150539248T	NDST1	NM_001543.5(NDST1):c.1458C>T:p.Cys486=	coding	Benign/Likely_benign
5	150542927	G	T	G150542927T	NDST1	NM_001543.5(NDST1):c.1926G>T:p.Glu642Asp	coding	Pathogenic
5	150542981	C	T	C150542981T	NDST1	NM_001543.5(NDST1):c.1970+10C>T	noncoding	Benign/Likely_benign
5	150545467	G	A	G150545467A	NDST1	NM_001543.5(NDST1):c.2126G>A:p.Arg709Gln	coding	Pathogenic
5	150549782	C	T	C150549782T	NDST1	NM_001543.5(NDST1):c.2421C>T:p.Thr807=	coding	Benign
5	150553260	C	T	C150553260T	NDST1	NM_001543.5(NDST1):c.2577C>T:p.Leu859=	coding	Benign
5	150553272	G	A	G150553272A	NDST1	NM_001543.5(NDST1):c.2589G>A:p.Leu863=	coding	Benign/Likely_benign
5	150649089	C	T	C150649089T	SYNPO	NM_007286.6(SYNPO):c.814C>T:p.Pro272Ser	coding	Benign/Likely_benign
5	150649670	G	A	G150649670A	SYNPO	NM_007286.6(SYNPO):c.1395G>A:p.Pro465=	coding	Benign
5	150649853	C	T	C150649853T	SYNPO	NM_007286.6(SYNPO):c.1578C>T:p.Pro526=	coding	Benign
5	150650138	G	A	G150650138A	SYNPO	NM_007286.6(SYNPO):c.1863G>A:p.Pro621=	coding	Benign
5	150650184	G	A	G150650184A	SYNPO	NM_007286.6(SYNPO):c.1909G>A:p.Val637Met	coding	Benign
5	150691844	G	C	G150691844C	RBM22	NM_018047.3(RBM22):c.1170C>G:p.Pro390=	coding	Benign
5	150711239	G	T	G150711239T	DCTN4	NM_001135643.1(DCTN4):c.1314C>A:p.Pro438=	coding	Benign
5	150715603	A	G	A150715603G	DCTN4	NM_001135643.1(DCTN4):c.1152T>C:p.Asp384=	coding	Benign
5	150719764	A	G	A150719764G	DCTN4	NM_001135643.1(DCTN4):c.936T>C:p.Tyr312=	coding	Benign
5	150896165	G	A	G150896165A	ZNF300	NM_001172831.1(ZNF300):c.1122C>T:p.Cys374=	coding	Benign
5	150896549	A	G	A150896549G	ZNF300	NM_001172831.1(ZNF300):c.738T>C:p.Asn246=	coding	Benign
5	150896590	C	T	C150896590T	ZNF300	NM_001172831.1(ZNF300):c.697G>A:p.Gly233Arg	coding	Benign
5	150896726	A	C	A150896726C	ZNF300	NM_001172831.1(ZNF300):c.561T>G:p.Phe187Leu	coding	Benign
5	151033641	C	T	C151033641T	TNIP1	NM_006058.5(TNIP1):c.1746G>A:p.Pro582=	coding	Benign
5	151049891	G	A	G151049891A	TNIP1	NM_006058.5(TNIP1):c.779C>T:p.Ala260Val	coding	Benign
5	151103696	G	C	G151103696C	ANXA6	NM_001155.5(ANXA6):c.1840-4C>G	noncoding	Benign
5	151124311	C	T	C151124311T	ANXA6	NM_001155.5(ANXA6):c.1113G>A:p.Ala371=	coding	Benign
5	151128248	A	G	A151128248G	ANXA6	NM_001155.5(ANXA6):c.919-9T>C	noncoding	Benign
5	151253115	A	G	A151253115G	GM2A	NM_000405.4(GM2A):c.-102A>G	noncoding	Benign
5	151253173	G	A	G151253173A	GM2A	NM_000405.4(GM2A):c.-44G>A	noncoding	Benign
5	151253249	C	T	C151253249T	GM2A	NM_000405.5(GM2A):c.33C>T:p.Ile11=	coding	Benign/Likely_benign
5	151253271	G	A	G151253271A	GM2A	NM_000405.5(GM2A):c.55G>A:p.Ala19Thr	coding	Benign
5	151259799	G	A	G151259799A	GM2A	NM_000405.5(GM2A):c.126G>A:p.Gly42=	coding	Benign/Likely_benign
5	151259833	G	T	G151259833T	GM2A	NM_000405.5(GM2A):c.160G>T:p.Glu54Ter	coding	Pathogenic
5	151259837	C	T	C151259837T	GM2A	NM_000405.5(GM2A):c.164C>T:p.Pro55Leu	coding	Pathogenic/Likely_pathogenic
5	151259848	A	G	A151259848G	GM2A	NM_000405.5(GM2A):c.175A>G:p.Ile59Val	coding	Benign
5	151259878	A	G	A151259878G	GM2A	NM_000405.5(GM2A):c.205A>G:p.Met69Val	coding	Benign
5	151266899	T	C	T151266899C	GM2A	NM_000405.5(GM2A):c.412T>C:p.Cys138Arg	coding	Pathogenic
5	151267327	T	C	T151267327C	GM2A	NM_000405.5(GM2A):c.458T>C:p.Val153Ala	coding	Benign
5	151267375	G	C	G151267375C	GM2A	NM_000405.5(GM2A):c.506G>C:p.Arg169Pro	coding	Pathogenic
5	151267451	A	G	A151267451G	GM2A	NM_000405.5(GM2A):c.582A>G:p.Ter194=	coding	Benign
5	151267479	C	T	C151267479T	GM2A	NM_000405.5(GM2A):c.*28C>T	coding	Benign
5	151267595	T	C	T151267595C	GM2A	NM_000405.5(GM2A):c.*144T>C	coding	Benign
5	151267678	A	G	A151267678G	GM2A	NM_000405.5(GM2A):c.*227A>G	noncoding	Benign
5	151267852	G	A	G151267852A	GM2A	NM_000405.5(GM2A):c.*401G>A	noncoding	Benign
5	151267987	G	T	G151267987T	GM2A	NM_000405.5(GM2A):c.*536G>T	noncoding	Benign
5	151268896	G	A	G151268896A	GM2A	NM_000405.5(GM2A):c.*1445G>A	noncoding	Benign
5	151269146	C	A	C151269146A	GM2A	NM_000405.5(GM2A):c.*1695C>A	noncoding	Benign
5	151269280	C	T	C151269280T	GM2A	NM_000405.5(GM2A):c.*1829C>T	noncoding	Benign
5	151269317	C	T	C151269317T	GM2A	NM_000405.5(GM2A):c.*1866C>T	noncoding	Benign
5	151269445	A	G	A151269445G	GM2A	NM_000405.5(GM2A):c.*1994A>G	noncoding	Benign
5	151270218	C	T	C151270218T	GM2A	NM_000405.5(GM2A):c.*2767C>T	noncoding	Benign
5	151270252	A	G	A151270252G	GM2A	NM_000405.5(GM2A):c.*2801A>G	noncoding	Benign
5	151270300	G	A	G151270300A	GM2A	NM_000405.5(GM2A):c.*2849G>A	noncoding	Benign
5	151316858	C	T	C151316858T	SLC36A2	NM_181776.3(SLC36A2):c.1411G>A:p.Asp471Asn	coding	Benign
5	151317022	G	T	G151317022T	SLC36A2	NM_181776.3(SLC36A2):c.1247C>A:p.Thr416Asn	coding	Benign
5	151317078	G	A	G151317078A	SLC36A2	NM_181776.3(SLC36A2):c.1191C>T:p.Ala397=	coding	Benign
5	151317093	A	G	A151317093G	SLC36A2	NM_181776.3(SLC36A2):c.1181-5T>C	noncoding	Benign
5	151322182	G	A	G151322182A	SLC36A2	NM_181776.3(SLC36A2):c.1044C>T:p.Ala348=	coding	Benign
5	151325381	G	A	G151325381A	SLC36A2	NM_181776.3(SLC36A2):c.915C>T:p.Ile305=	coding	Benign
5	151325414	G	A	G151325414A	SLC36A2	NM_181776.3(SLC36A2):c.882C>T:p.His294=	coding	Benign
5	151335552	G	A	G151335552A	SLC36A2	NM_181776.3(SLC36A2):c.526-5C>T	noncoding	Benign
5	151342902	G	A	G151342902A	SLC36A2	NM_181776.3(SLC36A2):c.426C>T:p.His142=	coding	Benign
5	151343531	C	T	C151343531T	SLC36A2	NM_181776.3(SLC36A2):c.323G>A:p.Cys108Tyr	coding	Benign
5	151343581	C	T	C151343581T	SLC36A2	NM_181776.3(SLC36A2):c.273G>A:p.Leu91=	coding	Benign
5	151347314	C	T	C151347314T	SLC36A2	NM_181776.3(SLC36A2):c.147G>A:p.Lys49=	coding	Benign
5	151467200	C	T	C151467200T	SLC36A1	NM_078483.4(SLC36A1):c.421C>T:p.Arg141Cys	coding	Benign
5	151479416	T	C	T151479416C	SLC36A1	NM_078483.4(SLC36A1):c.1086T>C:p.Phe362=	coding	Benign
5	151479416	T	G	T151479416G	SLC36A1	NM_078483.4(SLC36A1):c.1086T>G:p.Phe362Leu	coding	Benign
5	151507615	C	T	C151507615T	FAT2	NM_001447.2(FAT2):c.12060-4G>A	noncoding	Benign
5	151510091	C	T	C151510091T	FAT2	NM_001447.2(FAT2):c.11989G>A:p.Glu3997Lys	coding	Benign
5	151512207	T	G	T151512207G	FAT2	NM_001447.2(FAT2):c.11863A>C:p.Thr3955Pro	coding	Benign
5	151512245	G	C	G151512245C	FAT2	NM_001447.2(FAT2):c.11825C>G:p.Thr3942Ser	coding	Benign
5	151522040	C	T	C151522040T	FAT2	NM_001447.2(FAT2):c.10553G>A:p.Arg3518His	coding	Benign
5	151522084	C	T	C151522084T	FAT2	NM_001447.2(FAT2):c.10509G>A:p.Ala3503=	coding	Benign
5	151529274	G	A	G151529274A	FAT2	NM_001447.2(FAT2):c.9930C>T:p.Asn3310=	coding	Benign
5	151531756	G	A	G151531756A	FAT2	NM_001447.2(FAT2):c.9642C>T:p.Tyr3214=	coding	Benign
5	151534542	G	A	G151534542A	FAT2	NM_001447.2(FAT2):c.9294C>T:p.Asp3098=	coding	Benign
5	151542739	T	C	T151542739C	FAT2	NM_001447.2(FAT2):c.8388A>G:p.Val2796=	coding	Benign
5	151543102	C	T	C151543102T	FAT2	NM_001447.2(FAT2):c.8025G>A:p.Val2675=	coding	Benign
5	151543714	A	G	A151543714G	FAT2	NM_001447.2(FAT2):c.7413T>C:p.Thr2471=	coding	Benign
5	151544533	T	C	T151544533C	FAT2	NM_001447.2(FAT2):c.6594A>G:p.Pro2198=	coding	Benign
5	151544872	T	C	T151544872C	FAT2	NM_001447.2(FAT2):c.6255A>G:p.Pro2085=	coding	Benign
5	151544966	C	G	C151544966G	FAT2	NM_001447.2(FAT2):c.6161G>C:p.Gly2054Ala	coding	Benign
5	151545481	G	C	G151545481C	FAT2	NM_001447.2(FAT2):c.5646C>G:p.Val1882=	coding	Benign
5	151545485	A	G	A151545485G	FAT2	NM_001447.2(FAT2):c.5642T>C:p.Ile1881Thr	coding	Benign
5	151545582	C	T	C151545582T	FAT2	NM_001447.2(FAT2):c.5545G>A:p.Val1849Ile	coding	Benign
5	151546120	G	T	G151546120T	FAT2	NM_001447.2(FAT2):c.5007C>A:p.Ile1669=	coding	Benign
5	151546287	G	C	G151546287C	FAT2	NM_001447.2(FAT2):c.4840C>G:p.Leu1614Val	coding	Benign
5	151546322	A	G	A151546322G	FAT2	NM_001447.2(FAT2):c.4805T>C:p.Phe1602Ser	coding	Benign
5	151550631	C	T	C151550631T	FAT2	NM_001447.2(FAT2):c.4537G>A:p.Asp1513Asn	coding	Benign
5	151550644	C	T	C151550644T	FAT2	NM_001447.2(FAT2):c.4524G>A:p.Thr1508=	coding	Benign
5	151550799	C	T	C151550799T	FAT2	NM_001447.2(FAT2):c.4369G>A:p.Val1457Ile	coding	Benign
5	151553283	A	G	A151553283G	FAT2	NM_001447.2(FAT2):c.4050T>C:p.Asp1350=	coding	Benign
5	151553318	A	G	A151553318G	FAT2	NM_001447.2(FAT2):c.4015T>C:p.Trp1339Arg	coding	Benign
5	151554423	A	G	A151554423G	FAT2	NM_001447.2(FAT2):c.3884T>C:p.Leu1295Pro	coding	Benign
5	151568103	C	G	C151568103G	FAT2	NM_001447.2(FAT2):c.829G>C:p.Val277Leu	coding	Benign
5	151568727	C	T	C151568727T	FAT2	NM_001447.2(FAT2):c.205G>A:p.Val69Met	coding	Benign
5	151664109	G	A	G151664109A	SPARC	NM_003118.4(SPARC):c.861C>T:p.Ala287=	coding	Benign
5	151664160	G	A	G151664160A	SPARC	NM_003118.4(SPARC):c.810C>T:p.Phe270=	coding	Benign
5	151664183	C	T	C151664183T	SPARC	NM_003118.4(SPARC):c.787G>A:p.Glu263Lys	coding	Pathogenic
5	151666462	G	A	G151666462A	SPARC	NM_003118.4(SPARC):c.633C>T:p.His211=	coding	Benign
5	151667555	C	T	C151667555T	SPARC	NM_003118.4(SPARC):c.497G>A:p.Arg166His	coding	Pathogenic
5	151673133	C	T	C151673133T	SPARC	NM_003118.4(SPARC):c.204G>A:p.Ala68=	coding	Benign
5	151674604	C	A	C151674604A	SPARC	NM_003118.4(SPARC):c.120+8G>T	noncoding	Benign
5	151822682	G	A	G151822682A	GLRA1	NM_000171.4(GLRA1):c.1341C>T:p.His447=	coding	Benign
5	151822764	C	T	C151822764T	GLRA1	NM_000171.4(GLRA1):c.1259G>A:p.Arg420His	coding	Pathogenic
5	151822799	G	A	G151822799A	GLRA1	NM_000171.4(GLRA1):c.1224C>T:p.Phe408=	coding	Benign
5	151822842	G	A	G151822842A	GLRA1	NM_000171.4(GLRA1):c.1181C>T:p.Pro394Leu	coding	Benign
5	151822915	C	T	C151822915T	GLRA1	NM_000171.4(GLRA1):c.1108G>A:p.Gly370Ser	coding	Benign/Likely_benign
5	151828934	C	T	C151828934T	GLRA1	NM_000171.4(GLRA1):c.1046G>A:p.Arg349Gln	coding	Benign
5	151828939	C	T	C151828939T	GLRA1	NM_000171.4(GLRA1):c.1041G>A:p.Arg347=	coding	Benign
5	151828948	T	C	T151828948C	GLRA1	NM_000171.4(GLRA1):c.1032A>G:p.Arg344=	coding	Benign/Likely_benign
5	151828950	G	A	G151828950A	GLRA1	NM_000171.4(GLRA1):c.1030C>T:p.Arg344Ter	coding	Pathogenic
5	151828987	G	A	G151828987A	GLRA1	NM_000171.4(GLRA1):c.993C>T:p.Ala331=	coding	Benign
5	151829009	G	T	G151829009T	GLRA1	NM_000171.4(GLRA1):c.971C>A:p.Ser324Ter	coding	Pathogenic
5	151829060	T	C	T151829060C	GLRA1	NM_000171.4(GLRA1):c.920A>G:p.Tyr307Cys	coding	Pathogenic
5	151829060	T	G	T151829060G	GLRA1	NM_000171.4(GLRA1):c.920A>C:p.Tyr307Ser	coding	Pathogenic
5	151851392	T	C	T151851392C	GLRA1	NM_000171.4(GLRA1):c.910A>G:p.Lys304Glu	coding	Pathogenic
5	151851406	C	T	C151851406T	GLRA1	NM_000171.4(GLRA1):c.896G>A:p.Arg299Gln	coding	Pathogenic
5	151851410	A	T	A151851410T	GLRA1	NM_000171.4(GLRA1):c.892T>A:p.Ser298Thr	coding	Pathogenic
5	151851418	C	T	C151851418T	GLRA1	NM_000171.4(GLRA1):c.884G>A:p.Ser295Asn	coding	Pathogenic
5	151851420	C	G	C151851420G	GLRA1	NM_000171.4(GLRA1):c.882G>C:p.Gln294His	coding	Pathogenic
5	151851440	C	T	C151851440T	GLRA1	NM_000171.4(GLRA1):c.862G>A:p.Val288Met	coding	Pathogenic
5	151851470	G	T	G151851470T	GLRA1	NM_000171.4(GLRA1):c.832C>A:p.Pro278Thr	coding	Pathogenic
5	151851487	A	T	A151851487T	GLRA1	NM_000171.4(GLRA1):c.815T>A:p.Ile272Asn	coding	Pathogenic
5	151851501	C	G	C151851501G	GLRA1	NM_000171.4(GLRA1):c.801G>C:p.Trp267Cys	coding	Pathogenic
5	151851525	G	C	G151851525C	GLRA1	NM_000171.4(GLRA1):c.777C>G:p.Ser259Arg	coding	Pathogenic
5	151851565	C	T	C151851565T	GLRA1	NM_000171.4(GLRA1):c.737G>A:p.Arg246Gln	coding	Pathogenic
5	151851579	C	G	C151851579G	GLRA1	NM_000171.4(GLRA1):c.723G>C:p.Arg241=	coding	Benign
5	151851580	C	T	C151851580T	GLRA1	NM_000171.4(GLRA1):c.722G>A:p.Arg241Gln	coding	Benign
5	151855047	G	T	G151855047T	GLRA1	NM_000171.4(GLRA1):c.690C>A:p.Tyr230Ter	coding	Pathogenic
5	151856293	A	C	A151856293C	GLRA1	NM_000171.4(GLRA1):c.559+8T>G	noncoding	Benign
5	151856338	G	A	G151856338A	GLRA1	NM_000171.4(GLRA1):c.522C>T:p.Pro174=	coding	Benign/Likely_benign
5	151856384	C	T	C151856384T	GLRA1	NM_000171.4(GLRA1):c.477-1G>A	coding	Pathogenic
5	151859871	G	A	G151859871A	GLRA1	NM_000171.4(GLRA1):c.390C>T:p.Asn130=	coding	Benign
5	151859937	G	A	G151859937A	GLRA1	NM_000171.4(GLRA1):c.324C>T:p.Asp108=	coding	Benign
5	151886719	A	G	A151886719G	GLRA1	NM_000171.4(GLRA1):c.252+2T>C	noncoding	Pathogenic
5	151892378	C	G	C151892378G	GLRA1	NM_000171.4(GLRA1):c.117G>C:p.Ser39=	coding	Benign
5	151924527	C	G	C151924527G	GLRA1	NM_000171.4(GLRA1):c.23G>C:p.Arg8Pro	coding	Benign/Likely_benign
5	151924528	G	A	G151924528A	GLRA1	NM_000171.4(GLRA1):c.22C>T:p.Arg8Ter	coding	Pathogenic
5	151924745	G	A	G151924745A	GLRA1	NM_000171.4(GLRA1):c.-196C>T	noncoding	Benign
5	152392467	G	T	G152392467T	NMUR2	NM_020167.5(NMUR2):c.972C>A:p.Pro324=	coding	Benign
5	152395580	G	A	G152395580A	NMUR2	NM_020167.5(NMUR2):c.816C>T:p.Val272=	coding	Benign
5	153490969	C	A	C153490969A	GRIA1	NM_000827.4(GRIA1):c.81C>A:p.Ile27=	coding	Benign
5	153650492	G	C	G153650492C	GRIA1	NM_000827.4(GRIA1):c.623G>C:p.Arg208Pro	coding	Benign
5	153674514	T	C	T153674514C	GRIA1	NM_000827.4(GRIA1):c.714T>C:p.Ile238=	coding	Benign
5	153674541	C	A	C153674541A	GRIA1	NM_000827.4(GRIA1):c.741C>A:p.Gly247=	coding	Benign
5	153677014	C	T	C153677014T	GRIA1	NM_000827.4(GRIA1):c.882C>T:p.Tyr294=	coding	Benign
5	153686251	C	T	C153686251T	GRIA1	NM_000827.4(GRIA1):c.1056C>T:p.Asn352=	coding	Benign
5	153698094	C	T	C153698094T	GRIA1	NM_000827.4(GRIA1):c.1185C>T:p.Ala395=	coding	Benign
5	153698950	G	A	G153698950A	GRIA1	NM_000827.4(GRIA1):c.1329G>A:p.Ala443=	coding	Benign
5	154297802	G	C	G154297802C	GALNT10	NM_198321.4(GALNT10):c.263-139G>C	noncoding	Benign
5	154297803	A	T	A154297803T	GALNT10	NM_198321.4(GALNT10):c.263-138A>T	noncoding	Benign
5	154415905	G	A	G154415905A	GALNT10	NM_198321.4(GALNT10):c.1626G>A:p.Lys542=	coding	Benign
5	154477478	C	G	C154477478G	HAND1	NM_004821.3(HAND1):c.531G>C:p.Arg177=	coding	Benign
5	154477541	A	C	A154477541C	HAND1	NM_004821.3(HAND1):c.468T>G:p.Ser156=	coding	Benign
5	154477762	C	A	C154477762A	HAND1	NM_004821.3(HAND1):c.247G>T:p.Gly83Trp	coding	Benign/Likely_benign
5	154477829	C	T	C154477829T	HAND1	NM_004821.3(HAND1):c.180G>A:p.Gly60=	coding	Benign
5	154477847	C	T	C154477847T	HAND1	NM_004821.3(HAND1):c.162G>A:p.Pro54=	coding	Benign
5	154811250	T	C	T154811250C	LARP1	NM_033551.3(LARP1):c.2847T>C:p.Tyr949=	coding	Benign
5	154889392	A	C	A154889392C	GEMIN5	NM_015465.5(GEMIN5):c.4288T>G:p.Ser1430Ala	coding	Benign
5	154891327	T	C	T154891327C	GEMIN5	NM_015465.5(GEMIN5):c.4176A>G:p.Gln1392=	coding	Benign
5	154891455	C	T	C154891455T	GEMIN5	NM_015465.5(GEMIN5):c.4048G>A:p.Glu1350Lys	coding	Benign
5	154921417	T	G	T154921417G	GEMIN5	NM_015465.5(GEMIN5):c.1388A>C:p.Gln463Pro	coding	Benign
5	154928652	C	A	C154928652A	GEMIN5	NM_015465.5(GEMIN5):c.789G>T:p.Met263Ile	coding	Benign
5	154937111	G	A	G154937111A	GEMIN5	NM_015465.5(GEMIN5):c.241C>T:p.Leu81Phe	coding	Benign
5	154938047	G	A	G154938047A	GEMIN5	NM_015465.5(GEMIN5):c.87C>T:p.Gly29=	coding	Benign
5	155015252	A	T	A155015252T	KIF4B	NM_001099293.3(KIF4B):c.1393A>T:p.Ile465Leu	coding	Benign
5	155015339	G	C	G155015339C	KIF4B	NM_001099293.3(KIF4B):c.1480G>C:p.Glu494Gln	coding	Benign
5	155015497	C	T	C155015497T	KIF4B	NM_001099293.3(KIF4B):c.1638C>T:p.Asn546=	coding	Benign
5	155016735	T	C	T155016735C	KIF4B	NM_001099293.3(KIF4B):c.2876T>C:p.Leu959Pro	coding	Benign
5	156326973	A	T	A156326973T	SGCD	NM_000337.5(SGCD):c.-303A>T	noncoding	Benign/Likely_benign
5	156327097	A	G	A156327097G	SGCD	NM_000337.5(SGCD):c.-179A>G	noncoding	Benign/Likely_benign
5	156327182	C	G	C156327182G	SGCD	NM_000337.5(SGCD):c.-94C>G	noncoding	Benign
5	156329289	A	G	A156329289G	SGCD	NM_000337.5(SGCD):c.-43-245A>G	noncoding	Benign
5	156329404	G	A	G156329404A	SGCD	NM_000337.5(SGCD):c.-43-130G>A	noncoding	Benign
5	156329598	C	T	C156329598T	SGCD	NM_000337.5(SGCD):c.3+19C>T	noncoding	Benign/Likely_benign
5	156329599	G	A	G156329599A	SGCD	NM_000337.5(SGCD):c.3+20G>A	noncoding	Benign
5	156344346	A	G	A156344346G	SGCD	NM_000337.5(SGCD):c.4-143A>G	noncoding	Benign
5	156344500	G	C	G156344500C	SGCD	NM_000337.5(SGCD):c.15G>C:p.Glu5Asp	coding	Benign/Likely_benign
5	156344569	T	C	T156344569C	SGCD	NM_000337.5(SGCD):c.84T>C:p.Tyr28=	coding	Benign
5	156344574	G	A	G156344574A	SGCD	NM_000337.5(SGCD):c.89G>A:p.Trp30Ter	coding	Pathogenic
5	156344576	C	G	C156344576G	SGCD	NM_000337.5(SGCD):c.91C>G:p.Arg31Gly	coding	Benign
5	156344590	G	C	G156344590C	SGCD	NM_000337.5(SGCD):c.105G>C:p.Leu35=	coding	Benign/Likely_benign
5	156344629	G	C	G156344629C	SGCD	NM_000337.5(SGCD):c.144G>C:p.Val48=	coding	Benign/Likely_benign
5	156344763	A	G	A156344763G	SGCD	NM_000337.5(SGCD):c.192+86A>G	noncoding	Benign
5	156344869	G	A	G156344869A	SGCD	NM_000337.5(SGCD):c.192+192G>A	noncoding	Benign
5	156508634	G	T	G156508634T	SGCD	NM_000337.5(SGCD):c.226G>T:p.Gly76Cys	coding	Benign
5	156508698	G	A	G156508698A	SGCD	NM_000337.5(SGCD):c.290G>A:p.Arg97Gln	coding	Benign/Likely_benign
5	156508710	T	C	T156508710C	SGCD	NM_000337.5(SGCD):c.294+8T>C	noncoding	Benign/Likely_benign
5	156508981	C	A	C156508981A	SGCD	NM_000337.5(SGCD):c.294+279C>A	noncoding	Benign
5	156588945	G	A	G156588945A	SGCD	NM_000337.5(SGCD):c.295-286G>A	noncoding	Benign
5	156589191	T	A	T156589191A	SGCD	NM_000337.5(SGCD):c.295-40T>A	noncoding	Benign
5	156589550	T	A	T156589550A	SGCD	NM_000337.5(SGCD):c.382+232T>A	noncoding	Benign
5	156594761	A	G	A156594761G	SGCD	NM_000337.5(SGCD):c.383-171A>G	noncoding	Benign
5	156594940	G	C	G156594940C	SGCD	NM_000337.5(SGCD):c.391G>C:p.Ala131Pro	coding	Pathogenic
5	156594992	T	A	T156594992A	SGCD	NM_000337.5(SGCD):c.443T>A:p.Leu148Ter	coding	Pathogenic
5	156595042	C	T	C156595042T	SGCD	NM_000337.5(SGCD):c.493C>T:p.Arg165Ter	coding	Pathogenic
5	156647240	T	G	T156647240G	SGCD	NM_000337.5(SGCD):c.503-224T>G	noncoding	Benign
5	156647468	G	A	G156647468A	SGCD	NM_000337.5(SGCD):c.507G>A:p.Ala169=	coding	Benign/Likely_benign
5	156647703	A	C	A156647703C	SGCD	NM_000337.5(SGCD):c.575+167A>C	noncoding	Benign
5	156757775	G	A	G156757775A	SGCD	NM_000337.5(SGCD):c.699+71G>A	coding	Benign
5	156759198	T	C	T156759198C	SGCD	NM_000337.5(SGCD):c.700-19T>C	noncoding	Benign
5	156759301	G	A	G156759301A	SGCD	NM_000337.5(SGCD):c.784G>A:p.Glu262Lys	coding	Pathogenic
5	156759392	A	C	A156759392C	SGCD	NM_000337.5(SGCD):c.*2A>C	noncoding	Benign/Likely_benign
5	156759750	A	G	A156759750G	SGCD	NM_000337.5(SGCD):c.*360A>G	noncoding	Benign/Likely_benign
5	156759753	C	T	C156759753T	SGCD	NM_000337.5(SGCD):c.*363C>T	noncoding	Benign/Likely_benign
5	156760171	G	C	G156760171C	SGCD	NM_000337.5(SGCD):c.*781G>C	noncoding	Benign
5	156760763	A	G	A156760763G	SGCD	NM_000337.5(SGCD):c.*1373A>G	noncoding	Benign/Likely_benign
5	156760917	C	T	C156760917T	SGCD	NM_000337.5(SGCD):c.*1527C>T	noncoding	Benign
5	156761008	T	C	T156761008C	SGCD	NM_000337.5(SGCD):c.*1618T>C	noncoding	Benign
5	156761755	T	C	T156761755C	SGCD	NM_000337.5(SGCD):c.*2365T>C	noncoding	Benign/Likely_benign
5	156762102	T	C	T156762102C	SGCD	NM_000337.5(SGCD):c.*2712T>C	noncoding	Benign/Likely_benign
5	156762803	G	C	G156762803C	SGCD	NM_000337.5(SGCD):c.*3413G>C	noncoding	Benign/Likely_benign
5	156763040	G	T	G156763040T	SGCD	NM_000337.5(SGCD):c.*3650G>T	noncoding	Benign/Likely_benign
5	156763077	A	G	A156763077G	SGCD	NM_000337.5(SGCD):c.*3687A>G	noncoding	Benign/Likely_benign
5	156763288	C	T	C156763288T	SGCD	NM_000337.5(SGCD):c.*3898C>T	noncoding	Benign/Likely_benign
5	156763352	G	A	G156763352A	SGCD	NM_000337.5(SGCD):c.*3962G>A	noncoding	Benign/Likely_benign
5	156763482	A	G	A156763482G	SGCD	NM_000337.5(SGCD):c.*4092A>G	noncoding	Benign/Likely_benign
5	156763556	T	C	T156763556C	SGCD	NM_000337.5(SGCD):c.*4166T>C	noncoding	Benign/Likely_benign
5	156763785	A	T	A156763785T	SGCD	NM_000337.5(SGCD):c.*4395A>T	noncoding	Benign
5	156763888	G	A	G156763888A	SGCD	NM_000337.5(SGCD):c.*4498G>A	noncoding	Benign/Likely_benign
5	156764203	T	C	T156764203C	SGCD	NM_000337.5(SGCD):c.*4813T>C	noncoding	Benign
5	156764208	G	A	G156764208A	SGCD	NM_000337.5(SGCD):c.*4818G>A	noncoding	Benign/Likely_benign
5	156764285	G	A	G156764285A	SGCD	NM_000337.5(SGCD):c.*4895G>A	noncoding	Benign/Likely_benign
5	156764504	C	T	C156764504T	SGCD	NM_000337.5(SGCD):c.*5114C>T	noncoding	Benign/Likely_benign
5	156764616	G	A	G156764616A	SGCD	NM_000337.5(SGCD):c.*5226G>A	noncoding	Benign/Likely_benign
5	156765253	C	T	C156765253T	SGCD	NM_000337.5(SGCD):c.*5863C>T	noncoding	Benign
5	156765267	C	A	C156765267A	SGCD	NM_000337.5(SGCD):c.*5877C>A	noncoding	Benign/Likely_benign
5	156765380	T	A	T156765380A	SGCD	NM_000337.5(SGCD):c.*5990T>A	noncoding	Benign/Likely_benign
5	156765790	C	T	C156765790T	SGCD	NM_000337.5(SGCD):c.*6400C>T	noncoding	Benign/Likely_benign
5	156766055	G	A	G156766055A	SGCD	NM_000337.5(SGCD):c.*6665G>A	noncoding	Benign/Likely_benign
5	156766107	G	A	G156766107A	SGCD	NM_000337.5(SGCD):c.*6717G>A	noncoding	Benign
5	156766265	G	A	G156766265A	SGCD	NM_000337.5(SGCD):c.*6875G>A	noncoding	Benign
5	156766690	C	A	C156766690A	SGCD	NM_000337.5(SGCD):c.*7300C>A	noncoding	Benign/Likely_benign
5	156766986	A	G	A156766986G	SGCD	NM_000337.5(SGCD):c.*7596A>G	noncoding	Benign/Likely_benign
5	156767204	C	T	C156767204T	SGCD	NM_000337.5(SGCD):c.*7814C>T	noncoding	Benign/Likely_benign
5	156767206	G	A	G156767206A	SGCD	NM_000337.5(SGCD):c.*7816G>A	noncoding	Benign/Likely_benign
5	156767256	G	A	G156767256A	SGCD	NM_000337.5(SGCD):c.*7866G>A	noncoding	Benign/Likely_benign
5	156767461	A	G	A156767461G	SGCD	NM_000337.5(SGCD):c.*8071A>G	noncoding	Benign
5	156919501	C	T	C156919501T	TIMD4	NM_138379.3(TIMD4):c.1093G>A:p.Val365Met	coding	Benign
5	156951655	G	A	G156951655A	TIMD4	NM_138379.3(TIMD4):c.536C>T:p.Thr179Ile	coding	Benign
5	156951677	C	T	C156951677T	TIMD4	NM_138379.3(TIMD4):c.514G>A:p.Val172Met	coding	Benign
5	156951682	G	T	G156951682T	TIMD4	NM_138379.3(TIMD4):c.509C>A:p.Thr170Lys	coding	Benign
5	157052453	G	A	G157052453A	HAVCR1	NM_001173393.3(HAVCR1):c.581C>T:p.Thr194Met	coding	Benign
5	157052477	G	A	G157052477A	HAVCR1	NM_001173393.3(HAVCR1):c.557C>T:p.Thr186Met	coding	Benign
5	157055285	C	G	C157055285G	HAVCR1	NM_001173393.3(HAVCR1):c.295G>C:p.Asp99His	coding	Benign
5	157055376	G	A	G157055376A	HAVCR1	NM_001173393.3(HAVCR1):c.204C>T:p.His68=	coding	Benign
5	157055430	G	A	G157055430A	HAVCR1	NM_001173393.3(HAVCR1):c.150C>T:p.Gly50=	coding	Benign
5	157087178	G	A	G157087178A	HAVCR2	NM_032782.5(HAVCR2):c.830C>T:p.Pro277Leu	coding	Benign
5	157087304	T	C	T157087304C	HAVCR2	NM_032782.5(HAVCR2):c.714-10A>G	noncoding	Benign
5	157180946	C	A	C157180946A	ITK	NM_005546.3(ITK):c.-32C>A	noncoding	Benign
5	157181063	G	A	G157181063A	ITK	NM_005546.3(ITK):c.86G>A:p.Arg29His	coding	Pathogenic
5	157208978	T	C	T157208978C	ITK	NM_005546.4(ITK):c.228T>C:p.Tyr76=	coding	Benign
5	157211279	G	A	G157211279A	ITK	NM_005546.3(ITK):c.244-8G>A	noncoding	Benign
5	157222945	G	A	G157222945A	ITK	NM_005546.3(ITK):c.578G>A:p.Arg193Gln	coding	Benign
5	157238096	C	T	C157238096T	ITK	NM_005546.3(ITK):c.769-13C>T	noncoding	Benign
5	157238099	A	T	A157238099T	ITK	NM_005546.3(ITK):c.769-10A>T	noncoding	Benign
5	157241663	C	T	C157241663T	ITK	NM_005546.3(ITK):c.1003C>T:p.Arg335Trp	coding	Pathogenic
5	157244427	G	T	G157244427T	ITK	NM_005546.3(ITK):c.1398G>T:p.Val466=	coding	Benign
5	157248900	C	T	C157248900T	ITK	NM_005546.4(ITK):c.1684C>T:p.Arg562Ter	coding	Pathogenic
5	157248975	G	A	G157248975A	ITK	NM_005546.3(ITK):c.1759G>A:p.Val587Ile	coding	Benign/Likely_benign
5	157248980	C	G	C157248980G	ITK	NM_005546.3(ITK):c.1764C>G:p.Tyr588Ter	coding	Pathogenic
5	157252831	A	C	A157252831C	ITK	NM_005546.3(ITK):c.*153A>C	noncoding	Benign
5	157253064	G	A	G157253064A	ITK	NM_005546.3(ITK):c.*386G>A	noncoding	Benign
5	157253164	G	T	G157253164T	ITK	NM_005546.3(ITK):c.*486G>T	noncoding	Benign
5	157253619	C	A	C157253619A	ITK	NM_005546.3(ITK):c.*941C>A	noncoding	Benign
5	157253675	A	G	A157253675G	ITK	NM_005546.3(ITK):c.*997A>G	noncoding	Benign
5	157253866	A	G	A157253866G	ITK	NM_005546.3(ITK):c.*1188A>G	noncoding	Benign
5	157253886	G	T	G157253886T	ITK	NM_005546.3(ITK):c.*1208G>T	noncoding	Benign
5	157254028	G	A	G157254028A	ITK	NM_005546.3(ITK):c.*1350G>A	noncoding	Benign
5	157254039	G	A	G157254039A	ITK	NM_005546.3(ITK):c.*1361G>A	noncoding	Benign
5	157254544	C	T	C157254544T	ITK	NM_005546.3(ITK):c.*1866C>T	noncoding	Benign
5	157294834	C	T	C157294834T	CYFIP2	NM_001037333.3(CYFIP2):c.259C>T:p.Arg87Cys	coding	Pathogenic/Likely_pathogenic
5	157296709	T	C	T157296709C	CYFIP2	NM_001037333.3(CYFIP2):c.322T>C:p.Tyr108His	coding	Pathogenic/Likely_pathogenic
5	157300765	C	T	C157300765T	CYFIP2	NM_001037333.3(CYFIP2):c.438C>T:p.Ala146=	coding	Benign
5	157319767	C	T	C157319767T	CYFIP2	NM_001037333.3(CYFIP2):c.1362C>T:p.Ile454=	coding	Benign
5	157319768	G	C	G157319768C	CYFIP2	NM_001037333.3(CYFIP2):c.1363G>C:p.Ala455Pro	coding	Pathogenic
5	157325573	C	G	C157325573G	CYFIP2	NM_001037333.3(CYFIP2):c.1917C>G:p.Ile639Met	coding	Pathogenic
5	157325574	G	A	G157325574A	CYFIP2	NM_001037333.3(CYFIP2):c.1918G>A:p.Glu640Lys	coding	Pathogenic
5	157327988	G	C	G157327988C	CYFIP2	NM_001037333.3(CYFIP2):c.2095G>C:p.Asp699His	coding	Pathogenic
5	157327992	A	G	A157327992G	CYFIP2	NM_001037333.3(CYFIP2):c.2099A>G:p.Gln700Arg	coding	Pathogenic
5	157383305	C	T	C157383305T	CYFIP2	NM_001037333.3(CYFIP2):c.3153C>T:p.Ala1051=	coding	Benign
5	157389317	G	A	G157389317A	CYFIP2	NM_001037333.3(CYFIP2):c.3336G>A:p.Pro1112=	coding	Benign
5	157390669	G	T	G157390669T	CYFIP2	NM_001037333.3(CYFIP2):c.3594+1G>T	coding	Pathogenic
5	157460125	A	G	A157460125G	NIPAL4	NM_001099287.1(NIPAL4):c.-10A>G	noncoding	Benign
5	157460136	T	C	T157460136C	NIPAL4	NM_001099287.1(NIPAL4):c.2T>C:p.Met1Thr	coding	Pathogenic
5	157460212	C	A	C157460212A	NIPAL4	NM_001099287.1(NIPAL4):c.78C>A:p.Gly26=	coding	Benign/Likely_benign
5	157460362	G	C	G157460362C	NIPAL4	NM_001099287.1(NIPAL4):c.223+5G>C	noncoding	Pathogenic
5	157463148	A	G	A157463148G	NIPAL4	NM_001099287.1(NIPAL4):c.278A>G:p.Asn93Ser	coding	Benign
5	157463166	T	C	T157463166C	NIPAL4	NM_001099287.1(NIPAL4):c.296T>C:p.Val99Ala	coding	Benign/Likely_benign
5	157463277	T	A	T157463277A	NIPAL4	NM_001099287.1(NIPAL4):c.407T>A:p.Val136Asp	coding	Pathogenic
5	157463295	G	T	G157463295T	NIPAL4	NM_001099287.1(NIPAL4):c.425G>T:p.Gly142Val	coding	Pathogenic
5	157463303	C	T	C157463303T	NIPAL4	NM_001099287.1(NIPAL4):c.433C>T:p.Arg145Ter	coding	Pathogenic
5	157467055	G	A	G157467055A	NIPAL4	NM_001099287.1(NIPAL4):c.470G>A:p.Gly157Glu	coding	Pathogenic
5	157467062	C	T	C157467062T	NIPAL4	NM_001099287.1(NIPAL4):c.477C>T:p.Phe159=	coding	Benign
5	157468728	C	A	C157468728A	NIPAL4	NM_001099287.1(NIPAL4):c.527C>A:p.Ala176Asp	coding	Pathogenic
5	157468735	A	C	A157468735C	NIPAL4	NM_001099287.1(NIPAL4):c.534A>C:p.Glu178Asp	coding	Pathogenic
5	157468756	C	G	C157468756G	NIPAL4	NM_001099287.1(NIPAL4):c.555C>G:p.Tyr185Ter	coding	Pathogenic
5	157468783	G	A	G157468783A	NIPAL4	NM_001099287.1(NIPAL4):c.582G>A:p.Thr194=	coding	Benign
5	157468813	G	A	G157468813A	NIPAL4	NM_001099287.1(NIPAL4):c.611+1G>A	coding	Pathogenic
5	157471668	C	T	C157471668T	NIPAL4	NM_001099287.1(NIPAL4):c.623C>T:p.Ser208Phe	coding	Pathogenic
5	157471682	A	G	A157471682G	NIPAL4	NM_001099287.1(NIPAL4):c.637A>G:p.Arg213Gly	coding	Benign
5	157471733	G	A	G157471733A	NIPAL4	NM_001099287.1(NIPAL4):c.688G>A:p.Gly230Arg	coding	Pathogenic
5	157471740	C	G	C157471740G	NIPAL4	NM_001099287.1(NIPAL4):c.695C>G:p.Thr232Arg	coding	Pathogenic
5	157471754	C	G	C157471754G	NIPAL4	NM_001099287.1(NIPAL4):c.709C>G:p.His237Asp	coding	Pathogenic
5	157471818	G	A	G157471818A	NIPAL4	NM_001099287.1(NIPAL4):c.772+1G>A	coding	Pathogenic
5	157472395	C	T	C157472395T	NIPAL4	NM_001099287.1(NIPAL4):c.836C>T:p.Pro279Leu	coding	Pathogenic
5	157472403	G	A	G157472403A	NIPAL4	NM_001099287.1(NIPAL4):c.844G>A:p.Gly282Arg	coding	Pathogenic
5	157472448	G	A	G157472448A	NIPAL4	NM_001099287.1(NIPAL4):c.889G>A:p.Gly297Arg	coding	Pathogenic
5	157472498	C	G	C157472498G	NIPAL4	NM_001099287.1(NIPAL4):c.939C>G:p.Asn313Lys	coding	Pathogenic
5	157472573	C	A	C157472573A	NIPAL4	NM_001099287.1(NIPAL4):c.1014C>A:p.Ser338Arg	coding	Pathogenic
5	157472642	C	A	C157472642A	NIPAL4	NM_001099287.1(NIPAL4):c.1083C>A:p.Tyr361Ter	coding	Pathogenic
5	157472861	T	C	T157472861C	NIPAL4	NM_001099287.1(NIPAL4):c.1302T>C:p.Val434=	coding	Benign
5	157472917	C	T	C157472917T	NIPAL4	NM_001099287.1(NIPAL4):c.1358C>T:p.Ser453Leu	coding	Benign
5	157473039	C	T	C157473039T	NIPAL4	NM_001099287.1(NIPAL4):c.*79C>T	noncoding	Benign
5	157473526	C	A	C157473526A	NIPAL4	NM_001099287.1(NIPAL4):c.*566C>A	noncoding	Benign
5	157473742	T	C	T157473742C	NIPAL4	NM_001099287.1(NIPAL4):c.*782T>C	noncoding	Benign
5	157473764	T	A	T157473764A	NIPAL4	NM_001172292.1(NIPAL4):c.*804T>A	noncoding	Benign
5	157473870	A	T	A157473870T	NIPAL4	NM_001099287.1(NIPAL4):c.*910A>T	noncoding	Benign
5	157474100	G	T	G157474100T	NIPAL4	NM_001099287.1(NIPAL4):c.*1140G>T	noncoding	Benign
5	157474181	C	T	C157474181T	NIPAL4	NM_001099287.1(NIPAL4):c.*1221C>T	noncoding	Benign
5	157474316	T	C	T157474316C	NIPAL4	NM_001099287.1(NIPAL4):c.*1356T>C	noncoding	Benign
5	157474607	T	C	T157474607C	NIPAL4	NM_001099287.1(NIPAL4):c.*1647T>C	noncoding	Benign
5	157474693	G	T	G157474693T	NIPAL4	NM_001099287.1(NIPAL4):c.*1733G>T	noncoding	Benign
5	157481931	G	A	G157481931A	ADAM19	NM_033274.5(ADAM19):c.2563C>T:p.Pro855Ser	coding	Benign
5	157488289	G	A	G157488289A	ADAM19	NM_033274.5(ADAM19):c.2526C>T:p.Pro842=	coding	Benign
5	157488315	G	C	G157488315C	ADAM19	NM_033274.5(ADAM19):c.2500C>G:p.Pro834Ala	coding	Benign
5	157488402	C	T	C157488402T	ADAM19	NM_033274.5(ADAM19):c.2413G>A:p.Ala805Thr	coding	Benign
5	157491630	G	A	G157491630A	ADAM19	NM_033274.5(ADAM19):c.2080C>T:p.Pro694Ser	coding	Benign
5	157491832	C	T	C157491832T	ADAM19	NM_033274.5(ADAM19):c.1986+3G>A	noncoding	Benign
5	157507147	G	T	G157507147T	ADAM19	NM_033274.5(ADAM19):c.906-7C>A	noncoding	Benign
5	157537936	G	C	G157537936C	ADAM19	NM_033274.5(ADAM19):c.307C>G:p.Gln103Glu	coding	Benign
5	157638422	T	G	T157638422G	SOX30	NM_178424.2(SOX30):c.1688A>C:p.Gln563Pro	coding	Benign
5	157638431	G	A	G157638431A	SOX30	NM_178424.2(SOX30):c.1679C>T:p.Ser560Leu	coding	Benign
5	157638491	A	G	A157638491G	SOX30	NM_178424.2(SOX30):c.1619T>C:p.Leu540Pro	coding	Benign
5	157651740	C	G	C157651740G	SOX30	NM_178424.2(SOX30):c.339G>C:p.Pro113=	coding	Benign
5	157651881	C	T	C157651881T	SOX30	NM_178424.2(SOX30):c.198G>A:p.Ala66=	coding	Benign
5	157731604	T	C	T157731604C	THG1L	NM_017872.5(THG1L):c.164T>C:p.Val55Ala	coding	Pathogenic
5	159315006	G	T	G159315006T	IL12B	NM_002187.2(IL12B):c.*1095C>A	noncoding	Benign
5	159315218	G	T	G159315218T	IL12B	NM_002187.2(IL12B):c.*883C>A	noncoding	Benign
5	159315876	T	G	T159315876G	IL12B	NM_002187.2(IL12B):c.*225A>C	noncoding	Benign
5	159315942	T	G	T159315942G	IL12B	NM_002187.2(IL12B):c.*159A>C	noncoding	Benign
5	159316100	C	T	C159316100T	IL12B	NM_002187.3(IL12B):c.*1G>A	noncoding	Benign
5	159316772	G	T	G159316772T	IL12B	NM_002187.3(IL12B):c.900C>A:p.Cys300Ter	coding	Pathogenic
5	159316780	C	A	C159316780A	IL12B	NM_002187.2(IL12B):c.892G>T:p.Val298Phe	coding	Benign
5	159316809	C	G	C159316809G	IL12B	NM_002187.2(IL12B):c.863G>C:p.Arg288Thr	coding	Benign/Likely_benign
5	159320326	C	T	C159320326T	IL12B	NM_002187.3(IL12B):c.677G>A:p.Ser226Asn	coding	Benign
5	159320334	G	A	G159320334A	IL12B	NM_002187.3(IL12B):c.669C>T:p.Tyr223=	coding	Benign
5	159320528	C	G	C159320528G	IL12B	NM_002187.2(IL12B):c.483-8G>C	noncoding	Benign
5	159323159	G	A	G159323159A	IL12B	NM_002187.2(IL12B):c.259C>T:p.Gln87Ter	coding	Pathogenic
5	159323321	C	T	C159323321T	IL12B	NM_002187.2(IL12B):c.97G>A:p.Val33Ile	coding	Benign
5	159326753	C	T	C159326753T	IL12B	NM_002187.3(IL12B):c.30G>A:p.Trp10Ter	coding	Pathogenic
5	159972030	C	T	C159972030T	ADRA1B	NM_000679.4(ADRA1B):c.1101C>T:p.Cys367=	coding	Benign
5	160043127	T	C	T160043127C	TTC1	NM_003314.3(TTC1):c.505-6T>C	noncoding	Benign
5	160092949	A	G	A160092949G	PWWP2A	NM_001130864.2(PWWP2A):c.1701T>C:p.Tyr567=	coding	Benign
5	160119176	T	C	T160119176C	PWWP2A	NM_001130864.2(PWWP2A):c.213A>G:p.Pro71=	coding	Benign
5	160229619	T	A	T160229619A	FABP6	NM_001445.3(FABP6):c.62T>A:p.Leu21His	coding	Benign
5	160229620	C	T	C160229620T	FABP6	NM_001445.3(FABP6):c.63C>T:p.Leu21=	coding	Benign
5	160394996	G	T	G160394996T	ZBED8	NM_022090.5(ZBED8):c.495C>A:p.Ile165=	coding	Benign
5	160413973	T	C	T160413973C	SLU7	NM_006425.5(SLU7):c.331A>G:p.Ile111Val	coding	Benign
5	160428637	C	T	C160428637T	PTTG1	NM_004219.4(PTTG1):c.565C>T:p.Leu189=	coding	Benign
5	161294312	G	A	G161294312A	GABRB2	NM_021911.2(GABRB2):c.1308C>T:p.Ala436=	coding	Benign
5	161294393	G	A	G161294393A	GABRB2	NM_021911.2(GABRB2):c.1227C>T:p.Leu409=	coding	Benign
5	161294398	T	G	T161294398G	GABRB2	NM_021911.2(GABRB2):c.1222A>C:p.Thr408Pro	coding	Benign/Likely_benign
5	161294407	A	G	A161294407G	GABRB2	NM_001371727.1(GABRB2):c.1213T>C:p.Leu405=	coding	Benign
5	161326441	C	T	C161326441T	GABRB2	NM_021911.2(GABRB2):c.1118G>A:p.Arg373Gln	coding	Benign
5	161326471	T	C	T161326471C	GABRB2	NM_021911.2(GABRB2):c.1088A>G:p.Lys363Arg	coding	Benign
5	161326714	A	C	A161326714C	GABRB2	NM_021911.2(GABRB2):c.1078-233T>G	noncoding	Benign
5	161330579	G	T	G161330579T	GABRB2	NM_021911.2(GABRB2):c.1077+304C>A	noncoding	Benign
5	161330899	C	T	C161330899T	GABRB2	NM_001371727.1(GABRB2):c.1061G>A:p.Arg354His	coding	Benign
5	161330976	G	A	G161330976A	GABRB2	NM_021911.2(GABRB2):c.984C>T:p.Tyr328=	coding	Benign/Likely_benign
5	161331052	T	C	T161331052C	GABRB2	NM_000813.3(GABRB2):c.908A>G:p.Lys303Arg	coding	Pathogenic
5	161331056	C	T	C161331056T	GABRB2	NM_000813.3(GABRB2):c.904G>A:p.Val302Met	coding	Pathogenic/Likely_pathogenic
5	161331061	G	A	G161331061A	GABRB2	NM_021911.2(GABRB2):c.899C>T:p.Pro300Leu	coding	Pathogenic
5	161331101	T	G	T161331101G	GABRB2	NM_000813.3(GABRB2):c.859A>C:p.Thr287Pro	coding	Pathogenic
5	161331115	A	G	A161331115G	GABRB2	NM_021911.2(GABRB2):c.845T>C:p.Val282Ala	coding	Pathogenic
5	161331330	C	G	C161331330G	GABRB2	NM_021911.2(GABRB2):c.833-203G>C	noncoding	Benign
5	161334754	A	G	A161334754G	GABRB2	NM_000813.3(GABRB2):c.830T>C:p.Leu277Ser	coding	Pathogenic
5	161334837	T	A	T161334837A	GABRB2	NM_021911.2(GABRB2):c.747A>T:p.Thr249=	coding	Benign/Likely_benign
5	161334847	A	G	A161334847G	GABRB2	NM_021911.2(GABRB2):c.737T>C:p.Ile246Thr	coding	Pathogenic
5	161334854	A	G	A161334854G	GABRB2	NM_000813.3(GABRB2):c.730T>C:p.Tyr244His	coding	Pathogenic
5	161335167	C	T	C161335167T	GABRB2	NM_021911.2(GABRB2):c.680-263G>A	noncoding	Benign
5	161336609	T	G	T161336609G	GABRB2	NM_021911.2(GABRB2):c.679+23A>C	noncoding	Benign
5	161336777	A	G	A161336777G	GABRB2	NM_021911.2(GABRB2):c.542-8T>C	noncoding	Benign/Likely_benign
5	161336780	A	G	A161336780G	GABRB2	NM_021911.2(GABRB2):c.542-11T>C	noncoding	Benign
5	161336849	C	T	C161336849T	GABRB2	NM_021911.2(GABRB2):c.542-80G>A	noncoding	Benign
5	161410725	A	G	A161410725G	GABRB2	NM_021911.2(GABRB2):c.541+250T>C	noncoding	Benign
5	161459644	G	C	G161459644C	GABRB2	NM_021911.2(GABRB2):c.438C>G:p.Gly146=	coding	Benign
5	161459659	G	C	G161459659C	GABRB2	NM_021911.2(GABRB2):c.423C>G:p.Arg141=	coding	Benign/Likely_benign
5	161545228	A	G	A161545228G	GABRB2	NM_000813.3(GABRB2):c.236T>C:p.Met79Thr	coding	Pathogenic
5	161546561	A	T	A161546561T	GABRB2	NM_001371727.1(GABRB2):c.77+6T>A	noncoding	Benign
5	161686251	A	G	A161686251G	GABRA6	NM_000811.3(GABRA6):c.60A>G:p.Lys20=	coding	Benign
5	161689666	C	T	C161689666T	GABRA6	NM_000811.3(GABRA6):c.560C>T:p.Thr187Met	coding	Benign
5	161689700	C	A	C161689700A	GABRA6	NM_000811.3(GABRA6):c.594C>A:p.Val198=	coding	Benign
5	161689745	A	G	A161689745G	GABRA6	NM_000811.3(GABRA6):c.639A>G:p.Gln213=	coding	Benign
5	161690332	G	A	G161690332A	GABRA6	NM_000811.3(GABRA6):c.805G>A:p.Val269Ile	coding	Benign
5	161692210	T	A	T161692210A	GABRA6	NM_000811.3(GABRA6):c.1086+10T>A	noncoding	Benign
5	161847218	A	G	A161847218G	GABRA1	NM_000806.5(GABRA1):c.-441A>G	noncoding	Benign
5	161848181	T	C	T161848181C	GABRA1	NM_001127644.2(GABRA1):c.-257T>C	noncoding	Benign
5	161848296	A	G	A161848296G	GABRA1	NM_001127644.2(GABRA1):c.-142A>G	noncoding	Benign
5	161848407	C	T	C161848407T	GABRA1	NM_001127644.2(GABRA1):c.-31C>T	noncoding	Benign
5	161850776	C	T	C161850776T	GABRA1	NM_001127644.2(GABRA1):c.-15-20C>T	noncoding	Benign
5	161850821	G	A	G161850821A	GABRA1	NM_001127644.2(GABRA1):c.11G>A:p.Ser4Asn	coding	Benign/Likely_benign
5	161850893	A	T	A161850893T	GABRA1	NM_001127644.2(GABRA1):c.74+9A>T	noncoding	Benign/Likely_benign
5	161854239	T	C	T161854239C	GABRA1	NM_001127644.2(GABRA1):c.156T>C:p.Gly52=	coding	Benign
5	161865679	C	T	C161865679T	GABRA1	NM_001127644.2(GABRA1):c.188-42C>T	noncoding	Benign
5	161866073	C	T	C161866073T	GABRA1	NM_001127644.2(GABRA1):c.255+285C>T	noncoding	Benign
5	161872896	A	G	A161872896G	GABRA1	NM_001127644.2(GABRA1):c.256-221A>G	noncoding	Benign
5	161872916	A	T	A161872916T	GABRA1	NM_001127644.2(GABRA1):c.256-201A>T	noncoding	Benign
5	161873129	G	C	G161873129C	GABRA1	NM_001127644.2(GABRA1):c.268G>C:p.Asp90His	coding	Pathogenic
5	161875722	G	A	G161875722A	GABRA1	NM_001127644.2(GABRA1):c.559+80G>A	noncoding	Benign
5	161882297	A	G	A161882297G	GABRA1	NM_001127644.2(GABRA1):c.560-261A>G	noncoding	Benign
5	161882631	T	C	T161882631C	GABRA1	NM_001127644.2(GABRA1):c.633T>C:p.Asp211=	coding	Benign/Likely_benign
5	161882638	C	T	C161882638T	GABRA1	NM_001127644.2(GABRA1):c.640C>T:p.Arg214Cys	coding	Pathogenic
5	161882639	G	A	G161882639A	GABRA1	NM_001127644.2(GABRA1):c.641G>A:p.Arg214His	coding	Pathogenic/Likely_pathogenic
5	161882697	T	C	T161882697C	GABRA1	NM_001127644.2(GABRA1):c.699T>C:p.Ser233=	coding	Benign
5	161882746	T	G	T161882746G	GABRA1	NM_001127644.2(GABRA1):c.703+45T>G	noncoding	Benign
5	161882996	A	G	A161882996G	GABRA1	NM_001127644.2(GABRA1):c.703+295A>G	noncoding	Benign
5	161890651	T	C	T161890651C	GABRA1	NM_001127644.2(GABRA1):c.704-247T>C	noncoding	Benign
5	161890945	G	A	G161890945A	GABRA1	NM_001127644.2(GABRA1):c.751G>A:p.Gly251Ser	coding	Pathogenic
5	161890946	G	A	G161890946A	GABRA1	NM_001127644.2(GABRA1):c.752G>A:p.Gly251Asp	coding	Pathogenic
5	161890981	A	G	A161890981G	GABRA1	NM_001127644.2(GABRA1):c.787A>G:p.Met263Val	coding	Pathogenic
5	161890982	T	A	T161890982A	GABRA1	NM_001127644.2(GABRA1):c.788T>A:p.Met263Lys	coding	Pathogenic
5	161891025	G	A	G161891025A	GABRA1	NM_001127644.2(GABRA1):c.831G>A:p.Glu277=	coding	Benign
5	161895648	T	C	T161895648C	GABRA1	NM_001127644.2(GABRA1):c.857-18T>C	noncoding	Benign
5	161895668	G	T	G161895668T	GABRA1	NM_001127644.2(GABRA1):c.859G>T:p.Val287Leu	coding	Pathogenic
5	161895690	C	T	C161895690T	GABRA1	NM_001127644.2(GABRA1):c.881C>T:p.Thr294Ile	coding	Pathogenic
5	161895711	G	A	G161895711A	GABRA1	NM_001127644.2(GABRA1):c.902G>A:p.Arg301Lys	coding	Pathogenic
5	161895726	A	C	A161895726C	GABRA1	NM_001127644.2(GABRA1):c.917A>C:p.Lys306Thr	coding	Pathogenic
5	161895883	G	A	G161895883A	GABRA1	NM_001127644.2(GABRA1):c.1059+15G>A	noncoding	Benign
5	161896866	C	T	C161896866T	GABRA1	NM_001127644.2(GABRA1):c.1060-245C>T	noncoding	Benign
5	161897096	T	C	T161897096C	GABRA1	NM_001127644.2(GABRA1):c.1060-15T>C	noncoding	Benign
5	161897137	T	C	T161897137C	GABRA1	NM_001127644.2(GABRA1):c.1086T>C:p.Ile362=	coding	Benign
5	161897335	G	A	G161897335A	GABRA1	NM_001127644.2(GABRA1):c.1284G>A:p.Pro428=	coding	Benign/Likely_benign
5	161897388	A	G	A161897388G	GABRA1	NM_001127644.2(GABRA1):c.1337A>G:p.Glu446Gly	coding	Benign
5	161897892	A	G	A161897892G	GABRA1	NM_001127644.2(GABRA1):c.*470A>G	noncoding	Benign
5	161898928	A	C	A161898928C	GABRA1	NM_001127644.2(GABRA1):c.*1506A>C	noncoding	Benign
5	161899351	T	C	T161899351C	GABRA1	NM_001127644.2(GABRA1):c.*1929T>C	noncoding	Benign
5	162067846	C	T	C162067846T	GABRG2	NM_198903.2(GABRG2):c.-154C>T	noncoding	Benign
5	162068094	C	A	C162068094A	GABRG2	NM_198904.4(GABRG2):c.95C>A:p.Ser32Ter	coding	Pathogenic
5	162093965	G	A	G162093965A	GABRG2	NM_198903.2(GABRG2):c.245G>A:p.Arg82Gln	coding	Pathogenic/Likely_pathogenic
5	162093999	G	A	G162093999A	GABRG2	NM_198903.2(GABRG2):c.259+20G>A	noncoding	Benign
5	162095507	T	G	T162095507G	GABRG2	NM_198903.2(GABRG2):c.272T>G:p.Leu91Ter	coding	Pathogenic
5	162095550	C	T	C162095550T	GABRG2	NM_198903.2(GABRG2):c.315C>T:p.Asn105=	coding	Benign
5	162095551	G	A	G162095551A	GABRG2	NM_198903.2(GABRG2):c.316G>A:p.Ala106Thr	coding	Pathogenic/Likely_pathogenic
5	162095574	A	C	A162095574C	GABRG2	NM_198903.2(GABRG2):c.327+12A>C	noncoding	Benign
5	162097618	T	G	T162097618G	GABRG2	NM_198903.2(GABRG2):c.328-20T>G	noncoding	Benign
5	162097664	G	A	G162097664A	GABRG2	NM_198903.2(GABRG2):c.354G>A:p.Ala118=	coding	Benign/Likely_benign
5	162097670	G	A	G162097670A	GABRG2	NM_198903.2(GABRG2):c.360G>A:p.Thr120=	coding	Benign/Likely_benign
5	162097716	C	T	C162097716T	GABRG2	NM_198903.2(GABRG2):c.406C>T:p.Arg136Ter	coding	Pathogenic
5	162097719	T	C	T162097719C	GABRG2	NM_198903.2(GABRG2):c.409T>C:p.Leu137=	coding	Benign
5	162097839	C	G	C162097839G	GABRG2	NM_198903.2(GABRG2):c.529C>G:p.Arg177Gly	coding	Pathogenic
5	162097839	C	T	C162097839T	GABRG2	NM_198904.4(GABRG2):c.529C>T:p.Arg177Ter	coding	Pathogenic
5	162098164	C	T	C162098164T	GABRG2	NM_198903.2(GABRG2):c.548+306C>T	noncoding	Benign
5	162101257	C	T	C162101257T	GABRG2	NM_198904.4(GABRG2):c.571C>T:p.Gln191Ter	coding	Pathogenic
5	162101274	C	T	C162101274T	GABRG2	NM_198903.2(GABRG2):c.588C>T:p.Asn196=	coding	Benign
5	162101335	T	A	T162101335A	GABRG2	NM_198903.2(GABRG2):c.631+18T>A	noncoding	Benign
5	162102363	C	T	C162102363T	GABRG2	NM_198903.2(GABRG2):c.632-191C>T	noncoding	Benign
5	162102802	C	T	C162102802T	GABRG2	NM_198903.2(GABRG2):c.751+129C>T	noncoding	Benign
5	162103974	A	G	A162103974G	GABRG2	NM_198903.2(GABRG2):c.837A>G:p.Gln279=	coding	Benign/Likely_benign
5	162104005	G	T	G162104005T	GABRG2	NM_198904.4(GABRG2):c.748G>T:p.Glu250Ter	coding	Pathogenic
5	162104025	C	T	C162104025T	GABRG2	NM_198903.2(GABRG2):c.888C>T:p.Ser296=	coding	Benign/Likely_benign
5	162104026	G	A	G162104026A	GABRG2	NM_198903.2(GABRG2):c.889G>A:p.Gly297Arg	coding	Pathogenic
5	162104028	T	G	T162104028G	GABRG2	NM_198903.2(GABRG2):c.889+2T>G	noncoding	Pathogenic
5	162104044	A	G	A162104044G	GABRG2	NM_198903.2(GABRG2):c.889+18A>G	noncoding	Benign
5	162104046	A	C	A162104046C	GABRG2	NM_198903.2(GABRG2):c.889+20A>C	noncoding	Benign
5	162141934	A	T	A162141934T	GABRG2	NM_198903.2(GABRG2):c.890-230A>T	noncoding	Benign
5	162142083	A	G	A162142083G	GABRG2	NM_198903.2(GABRG2):c.890-81A>G	noncoding	Benign
5	162142163	G	A	G162142163A	GABRG2	NM_198903.2(GABRG2):c.890-1G>A	noncoding	Pathogenic
5	162142211	G	T	G162142211T	GABRG2	NM_198903.2(GABRG2):c.937G>T:p.Gly313Ter	coding	Pathogenic
5	162142234	T	C	T162142234C	GABRG2	NM_198903.2(GABRG2):c.960T>C:p.Tyr320=	coding	Benign
5	162142238	C	A	C162142238A	GABRG2	NM_198903.2(GABRG2):c.964C>A:p.Pro322Thr	coding	Pathogenic
5	162142238	C	T	C162142238T	GABRG2	NM_198903.2(GABRG2):c.964C>T:p.Pro322Ser	coding	Pathogenic
5	162142313	T	G	T162142313G	GABRG2	NM_198903.2(GABRG2):c.1039T>G:p.Leu347Val	coding	Pathogenic
5	162142336	G	A	G162142336A	GABRG2	NM_198903.2(GABRG2):c.1042+20G>A	noncoding	Benign
5	162142424	A	C	A162142424C	GABRG2	NM_198903.2(GABRG2):c.1042+108A>C	noncoding	Benign
5	162149153	G	A	G162149153A	GABRG2	NM_198903.2(GABRG2):c.1088G>A:p.Arg363Gln	coding	Pathogenic
5	162149168	A	T	A162149168T	GABRG2	NM_198903.2(GABRG2):c.1103A>T:p.Lys368Met	coding	Pathogenic
5	162149412	C	A	C162149412A	GABRG2	NM_198903.2(GABRG2):c.1248+99C>A	noncoding	Benign
5	162153132	C	T	C162153132T	GABRG2	NM_198903.2(GABRG2):c.1312C>T:p.Gln438Ter	coding	Pathogenic
5	162153168	G	T	G162153168T	GABRG2	NM_198903.2(GABRG2):c.1348G>T:p.Glu450Ter	coding	Pathogenic
5	162153977	C	T	C162153977T	GABRG2	NM_198903.2(GABRG2):c.*609C>T	noncoding	Benign
5	162154029	T	A	T162154029A	GABRG2	NM_198903.2(GABRG2):c.*661T>A	noncoding	Benign
5	162154865	C	T	C162154865T	GABRG2	NM_198903.2(GABRG2):c.*1497C>T	noncoding	Benign
5	162155342	G	A	G162155342A	GABRG2	NM_198903.2(GABRG2):c.*1974G>A	noncoding	Benign
5	163483130	A	G	A163483130G	HMMR	NM_001142556.2(HMMR):c.1643A>G:p.Gln548Arg	coding	Benign
5	163483159	G	C	G163483159C	HMMR	NM_001142556.2(HMMR):c.1672G>C:p.Asp558His	coding	Benign
5	163518263	C	T	C163518263T	MAT2B	NM_013283.5(MAT2B):c.905C>T:p.Thr302Ile	coding	Benign
5	168246948	C	T	C168246948T	TENM2	NM_001122679.2(TENM2):c.5982C>T:p.Asp1994=	coding	Benign
5	168408624	G	A	G168408624A	WWC1	NM_015238.3(WWC1):c.838G>A:p.Val280Met	coding	Benign
5	168414559	C	A	C168414559A	WWC1	NM_015238.3(WWC1):c.1153C>A:p.Arg385=	coding	Benign
5	168423729	G	A	G168423729A	WWC1	NM_015238.3(WWC1):c.1471G>A:p.Gly491Ser	coding	Benign
5	168428124	C	T	C168428124T	WWC1	NM_015238.3(WWC1):c.1902C>T:p.Tyr634=	coding	Benign
5	168428133	C	T	C168428133T	WWC1	NM_015238.3(WWC1):c.1911C>T:p.Ser637=	coding	Benign
5	168486454	C	A	C168486454A	RARS1	NM_002887.3(RARS1):c.-45C>A	noncoding	Benign
5	168486499	A	G	A168486499G	RARS1	NM_002887.4(RARS1):c.1A>G:p.Met1Val	coding	Pathogenic
5	168486500	T	A	T168486500A	RARS1	NM_002887.4(RARS1):c.2T>A:p.Met1Lys	coding	Pathogenic
5	168486500	T	C	T168486500C	RARS1	NM_002887.4(RARS1):c.2T>C:p.Met1Thr	coding	Pathogenic
5	168486503	A	G	A168486503G	RARS1	NM_002887.4(RARS1):c.5A>G:p.Asp2Gly	coding	Pathogenic
5	168486505	G	A	G168486505A	RARS1	NM_002887.4(RARS1):c.7G>A:p.Val3Ile	coding	Benign
5	168486544	G	T	G168486544T	RARS1	NM_002887.4(RARS1):c.45+1G>T	coding	Pathogenic
5	168492721	A	G	A168492721G	RARS1	NM_002887.4(RARS1):c.243A>G:p.Gln81=	coding	Benign
5	168492820	G	A	G168492820A	RARS1	NM_002887.4(RARS1):c.342G>A:p.Gln114=	coding	Benign
5	168493064	A	G	A168493064G	RARS1	NM_002887.4(RARS1):c.369+217A>G	noncoding	Benign
5	168493720	G	T	G168493720T	RARS1	NM_002887.4(RARS1):c.370-174G>T	noncoding	Benign
5	168494349	G	A	G168494349A	RARS1	NM_002887.4(RARS1):c.479-201G>A	noncoding	Benign
5	168494384	A	G	A168494384G	RARS1	NM_002887.4(RARS1):c.479-166A>G	noncoding	Benign
5	168495090	A	G	A168495090G	RARS1	NM_002887.4(RARS1):c.580-225A>G	noncoding	Benign
5	168497255	C	A	C168497255A	RARS1	NM_002887.4(RARS1):c.729C>A:p.Thr243=	coding	Benign
5	168500571	T	A	T168500571A	RARS1	NM_002887.4(RARS1):c.823-20T>A	noncoding	Benign
5	168502030	G	A	G168502030A	RARS1	NM_002887.4(RARS1):c.982G>A:p.Val328Ile	coding	Benign
5	168506055	A	G	A168506055G	RARS1	NM_002887.4(RARS1):c.1092A>G:p.Val364=	coding	Benign
5	168506090	T	A	T168506090A	RARS1	NM_002887.4(RARS1):c.1127T>A:p.Val376Glu	coding	Benign
5	168506151	A	G	A168506151G	RARS1	NM_002887.4(RARS1):c.1188A>G:p.Leu396=	coding	Benign
5	168506153	T	A	T168506153A	RARS1	NM_002887.4(RARS1):c.1190T>A:p.Phe397Tyr	coding	Benign
5	168506210	A	G	A168506210G	RARS1	NM_002887.4(RARS1):c.1236+11A>G	noncoding	Benign
5	168506425	A	G	A168506425G	RARS1	NM_002887.4(RARS1):c.1236+226A>G	noncoding	Benign
5	168507066	G	T	G168507066T	RARS1	NM_002887.4(RARS1):c.1346+235G>T	noncoding	Benign
5	168510248	C	G	C168510248G	RARS1	NM_002887.4(RARS1):c.1347-333C>G	noncoding	Benign
5	168510410	G	A	G168510410A	RARS1	NM_002887.4(RARS1):c.1347-171G>A	noncoding	Benign
5	168510602	G	A	G168510602A	RARS1	NM_002887.4(RARS1):c.1368G>A:p.Ser456=	coding	Benign
5	168510644	A	T	A168510644T	RARS1	NM_002887.4(RARS1):c.1410A>T:p.Leu470=	coding	Benign/Likely_benign
5	168510687	G	A	G168510687A	RARS1	NM_002887.4(RARS1):c.1452+1G>A	coding	Pathogenic
5	168510919	G	A	G168510919A	RARS1	NM_002887.4(RARS1):c.1452+233G>A	noncoding	Benign
5	168510957	A	T	A168510957T	RARS1	NM_002887.4(RARS1):c.1452+271A>T	noncoding	Benign
5	168516822	G	A	G168516822A	RARS1	NM_002887.4(RARS1):c.1497G>A:p.Ala499=	coding	Benign
5	168517536	C	T	C168517536T	RARS1	NM_002887.4(RARS1):c.1626-279C>T	noncoding	Benign
5	168517537	C	T	C168517537T	RARS1	NM_002887.4(RARS1):c.1626-278C>T	noncoding	Benign
5	168517556	C	A	C168517556A	RARS1	NM_002887.4(RARS1):c.1626-259C>A	noncoding	Benign
5	168517560	T	C	T168517560C	RARS1	NM_002887.4(RARS1):c.1626-255T>C	noncoding	Benign
5	168519071	A	G	A168519071G	RARS1	NM_002887.4(RARS1):c.1874-10A>G	noncoding	Benign
5	168666647	C	T	C168666647T	SLIT3	NM_003062.4(SLIT3):c.4379G>A:p.Arg1460His	coding	Benign
5	168671245	G	A	G168671245A	SLIT3	NM_003062.4(SLIT3):c.4080C>T:p.Thr1360=	coding	Benign
5	168671326	C	T	C168671326T	SLIT3	NM_003062.4(SLIT3):c.3999G>A:p.Lys1333=	coding	Benign
5	168696341	G	A	G168696341A	SLIT3	NM_003062.4(SLIT3):c.3033C>T:p.Cys1011=	coding	Benign
5	168710886	G	A	G168710886A	SLIT3	NM_003062.4(SLIT3):c.2719+9C>T	noncoding	Benign
5	168712274	G	A	G168712274A	SLIT3	NM_003062.4(SLIT3):c.2555+9C>T	noncoding	Benign
5	168712305	C	T	C168712305T	SLIT3	NM_003062.4(SLIT3):c.2533G>A:p.Asp845Asn	coding	Benign
5	168753042	C	T	C168753042T	SLIT3	NM_003062.4(SLIT3):c.1886G>A:p.Ser629Asn	coding	Benign
5	168753895	C	T	C168753895T	SLIT3	NM_003062.4(SLIT3):c.1798G>A:p.Val600Met	coding	Benign
5	168806514	G	A	G168806514A	SLIT3	NM_003062.4(SLIT3):c.867C>T:p.Asn289=	coding	Benign
5	169601320	G	A	G169601320A	SPDL1	NM_017785.5(SPDL1):c.1365G>A:p.Val455=	coding	Benign
5	169670470	G	C	G169670470C	DOCK2	NM_004946.3(DOCK2):c.169-72G>C	noncoding	Benign
5	169671117	A	G	A169671117G	DOCK2	NM_004946.3(DOCK2):c.264A>G:p.Ala88=	coding	Benign
5	169671132	G	T	G169671132T	DOCK2	NM_004946.3(DOCK2):c.279G>T:p.Thr93=	coding	Benign
5	169674341	C	T	C169674341T	DOCK2	NM_004946.3(DOCK2):c.366C>T:p.Tyr122=	coding	Benign
5	169684220	A	G	A169684220G	DOCK2	NM_004946.3(DOCK2):c.631A>G:p.Met211Val	coding	Benign
5	169684229	C	T	C169684229T	DOCK2	NM_004946.3(DOCK2):c.640C>T:p.Arg214Trp	coding	Benign
5	169684341	C	T	C169684341T	DOCK2	NM_004946.3(DOCK2):c.752C>T:p.Thr251Met	coding	Benign
5	169684342	G	A	G169684342A	DOCK2	NM_004946.3(DOCK2):c.753G>A:p.Thr251=	coding	Benign
5	169689340	G	A	G169689340A	DOCK2	NM_004946.3(DOCK2):c.843+7G>A	noncoding	Benign
5	169695944	G	A	G169695944A	DOCK2	NM_004946.3(DOCK2):c.979+6G>A	noncoding	Benign
5	169699388	A	G	A169699388G	DOCK2	NM_004946.3(DOCK2):c.1062A>G:p.Thr354=	coding	Benign
5	169708202	A	G	A169708202G	DOCK2	NM_004946.3(DOCK2):c.1417A>G:p.Met473Val	coding	Benign
5	169714135	T	C	T169714135C	DOCK2	NM_004946.3(DOCK2):c.1767T>C:p.Val589=	coding	Benign
5	169714135	T	G	T169714135G	DOCK2	NM_004946.3(DOCK2):c.1767T>G:p.Val589=	coding	Benign
5	169717458	G	A	G169717458A	DOCK2	NM_004946.3(DOCK2):c.2106G>A:p.Gln702=	coding	Benign
5	169718723	C	T	C169718723T	DOCK2	NM_004946.3(DOCK2):c.2199C>T:p.Ile733=	coding	Benign
5	169718765	T	C	T169718765C	DOCK2	NM_004946.3(DOCK2):c.2241T>C:p.Ile747=	coding	Benign
5	169718777	G	T	G169718777T	DOCK2	NM_004946.3(DOCK2):c.2253G>T:p.Arg751Ser	coding	Pathogenic
5	169747480	A	G	A169747480G	DOCK2	NM_004946.3(DOCK2):c.2352A>G:p.Gln784=	coding	Benign
5	169882810	G	A	G169882810A	INSYN2B	NM_001129891.3(INSYN2B):c.1089C>T:p.Thr363=	coding	Benign
5	169883403	C	G	C169883403G	INSYN2B	NM_001129891.3(INSYN2B):c.496G>C:p.Val166Leu	coding	Benign
5	169985875	G	A	G169985875A	DOCK2	NM_004946.3(DOCK2):c.2946G>A:p.Lys982=	coding	Benign
5	170008706	G	T	G170008706T	DOCK2	NM_004946.3(DOCK2):c.3192G>T:p.Arg1064=	coding	Benign
5	170027895	C	T	C170027895T	DOCK2	NM_004946.3(DOCK2):c.3414C>T:p.His1138=	coding	Benign
5	170027898	G	A	G170027898A	DOCK2	NM_004946.3(DOCK2):c.3417G>A:p.Glu1139=	coding	Benign
5	170036523	C	G	C170036523G	DOCK2	NM_004946.3(DOCK2):c.3633C>G:p.Tyr1211Ter	coding	Pathogenic
5	170042084	G	C	G170042084C	DOCK2	NM_004946.3(DOCK2):c.3828G>C:p.Leu1276=	coding	Benign
5	170045884	T	C	T170045884C	DOCK2	NM_004946.3(DOCK2):c.3945T>C:p.Tyr1315=	coding	Benign
5	170047513	C	T	C170047513T	DOCK2	NM_004946.3(DOCK2):c.3970C>T:p.Gln1324Ter	coding	Pathogenic
5	170055395	C	T	C170055395T	DOCK2	NM_004946.3(DOCK2):c.4295+9C>T	noncoding	Benign
5	170055396	G	A	G170055396A	DOCK2	NM_004946.3(DOCK2):c.4295+10G>A	noncoding	Benign
5	170056702	C	T	C170056702T	DOCK2	NM_004946.3(DOCK2):c.4314C>T:p.Tyr1438=	coding	Benign
5	170075943	C	T	C170075943T	DOCK2	NM_004946.3(DOCK2):c.4729-4C>T	noncoding	Benign
5	170076072	T	C	T170076072C	DOCK2	NM_004946.3(DOCK2):c.4854T>C:p.Gly1618=	coding	Benign
5	170077798	A	G	A170077798G	DOCK2	NM_004946.3(DOCK2):c.4955A>G:p.Asn1652Ser	coding	Benign
5	170077819	G	C	G170077819C	DOCK2	NM_004946.3(DOCK2):c.4976G>C:p.Ser1659Thr	coding	Benign
5	170081849	G	A	G170081849A	DOCK2	NM_004946.3(DOCK2):c.5295G>A:p.Ala1765=	coding	Benign
5	170081898	C	T	C170081898T	DOCK2	NM_004946.3(DOCK2):c.5344C>T:p.Arg1782Cys	coding	Benign
5	170082810	G	A	G170082810A	DOCK2	NM_004946.3(DOCK2):c.5445G>A:p.Ser1815=	coding	Benign
5	170082840	G	A	G170082840A	DOCK2	NM_004946.3(DOCK2):c.5475G>A:p.Ser1825=	coding	Benign
5	170082849	G	A	G170082849A	DOCK2	NM_004946.3(DOCK2):c.5484G>A:p.Thr1828=	coding	Benign
5	170106236	G	A	G170106236A	FOXI1	NM_012188.5(FOXI1):c.279G>A:p.Arg93=	coding	Benign
5	170108274	G	A	G170108274A	FOXI1	NM_012188.5(FOXI1):c.800G>A:p.Arg267Gln	coding	Pathogenic
5	170108488	G	A	G170108488A	FOXI1	NM_012188.5(FOXI1):c.1014G>A:p.Ala338=	coding	Benign
5	170108518	T	C	T170108518C	FOXI1	NM_012188.5(FOXI1):c.1044T>C:p.Tyr348=	coding	Benign
5	170108730	C	A	C170108730A	FOXI1	NM_012188.5(FOXI1):c.*119C>A	noncoding	Benign
5	170109051	G	A	G170109051A	FOXI1	NM_012188.5(FOXI1):c.*440G>A	noncoding	Benign
5	170109146	A	G	A170109146G	FOXI1	NM_012188.5(FOXI1):c.*535A>G	noncoding	Benign
5	170385394	G	A	G170385394A	KCNMB1	NM_004137.4(KCNMB1):c.54C>T:p.Cys18=	coding	Benign
5	170805773	G	A	G170805773A	GABRP	NM_014211.3(GABRP):c.599G>A:p.Arg200His	coding	Benign
5	171392949	C	T	C171392949T	NPM1	NM_002520.6(NPM1):c.495C>T:p.Asp165=	coding	Benign
5	171410522	T	C	T171410522C	NPM1	NM_002520.6(NPM1):c.847-5T>C	noncoding	Benign
5	171456664	G	A	G171456664A	FGF18	NM_003862.3(FGF18):c.483G>A:p.Lys161=	coding	Benign
5	171876315	G	A	G171876315A	FBXW11	NM_012300.2(FBXW11):c.1128C>T:p.Ile376=	coding	Benign
5	171876352	G	T	G171876352T	FBXW11	NM_012300.3(FBXW11):c.1091C>A:p.Ala364Asp	coding	Pathogenic
5	171876356	G	A	G171876356A	FBXW11	NM_012300.3(FBXW11):c.1087C>T:p.Arg363Trp	coding	Pathogenic
5	171891532	C	G	C171891532G	FBXW11	NM_012300.3(FBXW11):c.724G>C:p.Gly242Arg	coding	Pathogenic
5	172054563	C	G	C172054563G	STK10	NM_005990.4(STK10):c.2652+6G>C	noncoding	Benign
5	172090358	G	A	G172090358A	STK10	NM_005990.4(STK10):c.1559C>T:p.Pro520Leu	coding	Benign
5	172093786	G	C	G172093786C	STK10	NM_005990.4(STK10):c.1180C>G:p.Pro394Ala	coding	Benign
5	172117515	G	A	G172117515A	STK10	NM_005990.4(STK10):c.486C>T:p.Asn162=	coding	Benign
5	172127392	G	A	G172127392A	STK10	NM_005990.4(STK10):c.351C>T:p.Ala117=	coding	Benign
5	172333541	A	T	A172333541T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*4828T>A	coding	Benign
5	172333542	A	T	A172333542T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*4827T>A	coding	Benign
5	172333565	A	G	A172333565G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*4804T>C	coding	Benign
5	172334334	C	T	C172334334T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*4035G>A	coding	Benign
5	172334433	C	T	C172334433T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*3936G>A	coding	Benign
5	172335092	A	G	A172335092G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*3277T>C	coding	Benign
5	172335096	C	A	C172335096A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*3273G>T	coding	Benign
5	172335250	A	G	A172335250G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*3119T>C	coding	Benign
5	172335255	T	C	T172335255C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*3114A>G	coding	Benign
5	172335481	C	G	C172335481G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2888G>C	coding	Benign
5	172335571	A	G	A172335571G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2798T>C	coding	Benign
5	172335586	T	C	T172335586C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2783A>G	coding	Benign
5	172335773	T	C	T172335773C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2596A>G	coding	Benign
5	172335777	C	T	C172335777T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2592G>A	coding	Benign
5	172336242	T	G	T172336242G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2127A>C	coding	Benign
5	172336312	A	G	A172336312G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2057T>C	coding	Benign
5	172336337	C	T	C172336337T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2032G>A	coding	Benign
5	172336619	A	G	A172336619G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1750T>C	coding	Benign
5	172336686	A	G	A172336686G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1683T>C	coding	Benign
5	172336858	T	C	T172336858C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1511A>G	coding	Benign
5	172337116	T	C	T172337116C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1253A>G	coding	Benign
5	172337154	T	C	T172337154C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1215A>G	coding	Benign
5	172337210	G	A	G172337210A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1159C>T	coding	Benign
5	172337615	C	T	C172337615T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*754G>A	coding	Benign
5	172337661	C	T	C172337661T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*708G>A	coding	Benign
5	172337745	T	C	T172337745C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*624A>G	coding	Benign
5	172337798	G	A	G172337798A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*571C>T	coding	Benign
5	172338075	G	T	G172338075T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*294C>A	coding	Benign
5	172338355	A	G	A172338355G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*14T>C	coding	Benign
5	172338628	G	A	G172338628A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.2477C>T:p.Pro826Leu	coding	Benign/Likely_benign
5	172339122	G	A	G172339122A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1983C>T:p.Val661=	coding	Benign/Likely_benign
5	172339393	G	A	G172339393A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1712C>T:p.Pro571Leu	coding	Benign/Likely_benign
5	172339467	C	T	C172339467T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1638G>A:p.Thr546=	coding	Benign
5	172339562	C	T	C172339562T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1543G>A:p.Asp515Asn	coding	Benign
5	172339772	T	C	T172339772C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1333A>G:p.Thr445Ala	coding	Benign
5	172339821	C	G	C172339821G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1284G>C:p.Thr428=	coding	Benign
5	172346235	C	T	C172346235T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1089G>A:p.Pro363=	coding	Benign
5	172346269	G	A	G172346269A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1063-8C>T	noncoding	Benign
5	172346270	A	G	A172346270G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1063-9T>C	noncoding	Benign
5	172347268	C	T	C172347268T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1062+15G>A	noncoding	Benign/Likely_benign
5	172350389	G	A	G172350389A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.986C>T:p.Pro329Leu	coding	Benign
5	172350491	G	T	G172350491T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.884C>A:p.Pro295Gln	coding	Benign
5	172350532	C	T	C172350532T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.843G>A:p.Glu281=	coding	Benign/Likely_benign
5	172358828	C	T	C172358828T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.612G>A:p.Thr204=	coding	Benign
5	172358888	A	G	A172358888G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.563-11T>C	noncoding	Benign
5	172362775	G	A	G172362775A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.522C>T:p.Ser174=	coding	Benign
5	172362867	C	A	C172362867A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.430G>T:p.Gly144Cys	coding	Benign/Likely_benign
5	172373776	G	C	G172373776C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.427+14C>G	noncoding	Benign
5	172382035	C	T	C172382035T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.401+1G>A	noncoding	Pathogenic
5	172394622	G	A	G172394622A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.250C>T:p.Arg84Ter	coding	Pathogenic
5	172406273	C	T	C172406273T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.232+4G>A	noncoding	Benign
5	172422445	G	A	G172422445A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.127C>T:p.Arg43Trp	coding	Pathogenic
5	172422467	G	A	G172422467A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.105C>T:p.Ser35=	coding	Benign
5	172422498	T	G	T172422498G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.76-2A>C	noncoding	Pathogenic
5	172454408	G	C	G172454408C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.-56C>G	noncoding	Benign
5	172454419	G	A	G172454419A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.-67C>T	noncoding	Benign
5	172454431	G	T	G172454431T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.-79C>A	noncoding	Benign
5	172914756	T	A	T172914756A	ERGIC1	NM_001031711.3(ERGIC1):c.293T>A:p.Val98Glu	coding	Pathogenic
5	173090650	C	T	C173090650T	CREBRF	NM_153607.3(CREBRF):c.471C>T:p.Pro157=	coding	Benign
5	173091109	A	G	A173091109G	CREBRF	NM_153607.3(CREBRF):c.930A>G:p.Ser310=	coding	Benign
5	173232508	C	A	C173232508A	NKX2-5	NM_004387.4(NKX2-5):c.*61G>T	noncoding	Benign
5	173232648	T	C	T173232648C	NKX2-5	NM_004387.4(NKX2-5):c.896A>G:p.Asp299Gly	coding	Pathogenic
5	173232767	G	C	G173232767C	NKX2-5	NM_004387.4(NKX2-5):c.777C>G:p.Tyr259Ter	coding	Pathogenic
5	173232775	G	C	G173232775C	NKX2-5	NM_004387.4(NKX2-5):c.769C>G:p.Pro257Ala	coding	Pathogenic
5	173232776	A	C	A173232776C	NKX2-5	NM_004387.4(NKX2-5):c.768T>G:p.Tyr256Ter	coding	Pathogenic
5	173232776	A	T	A173232776T	NKX2-5	NM_004387.4(NKX2-5):c.768T>A:p.Tyr256Ter	coding	Pathogenic
5	173232833	G	T	G173232833T	NKX2-5	NM_004387.4(NKX2-5):c.711C>A:p.Tyr237Ter	coding	Pathogenic
5	173232898	G	A	G173232898A	NKX2-5	NM_004387.4(NKX2-5):c.646C>T:p.Arg216Cys	coding	Pathogenic
5	173232938	C	G	C173232938G	NKX2-5	NM_004387.4(NKX2-5):c.606G>C:p.Leu202=	coding	Benign
5	173232950	C	T	C173232950T	NKX2-5	NM_004387.4(NKX2-5):c.594G>A:p.Gln198=	coding	Benign
5	173232952	G	A	G173232952A	NKX2-5	NM_004387.4(NKX2-5):c.592C>T:p.Gln198Ter	coding	Pathogenic
5	173232976	G	A	G173232976A	NKX2-5	NM_004387.4(NKX2-5):c.568C>T:p.Arg190Cys	coding	Pathogenic
5	173232990	C	A	C173232990A	NKX2-5	NM_004387.4(NKX2-5):c.554G>T:p.Trp185Leu	coding	Pathogenic
5	173232997	T	C	T173232997C	NKX2-5	NM_004387.4(NKX2-5):c.547A>G:p.Lys183Glu	coding	Pathogenic
5	173233001	C	G	C173233001G	NKX2-5	NM_004387.4(NKX2-5):c.543G>C:p.Gln181His	coding	Pathogenic
5	173233001	C	T	C173233001T	NKX2-5	NM_004387.4(NKX2-5):c.543G>A:p.Gln181=	coding	Benign/Likely_benign
5	173233011	G	A	G173233011A	NKX2-5	NM_004387.4(NKX2-5):c.533C>T:p.Thr178Met	coding	Pathogenic
5	173233032	A	C	A173233032C	NKX2-5	NM_004387.4(NKX2-5):c.512T>G:p.Leu171Arg	coding	Pathogenic
5	173233036	G	A	G173233036A	NKX2-5	NM_004387.4(NKX2-5):c.508C>T:p.Gln170Ter	coding	Pathogenic
5	173233053	G	T	G173233053T	NKX2-5	NM_004387.4(NKX2-5):c.491C>A:p.Ser164Ter	coding	Pathogenic
5	173233058	G	T	G173233058T	NKX2-5	NM_004387.4(NKX2-5):c.486C>A:p.Tyr162Ter	coding	Pathogenic
5	173233062	C	G	C173233062G	NKX2-5	NM_004387.4(NKX2-5):c.482G>C:p.Arg161Pro	coding	Pathogenic
5	173233083	T	C	T173233083C	NKX2-5	NM_004387.4(NKX2-5):c.461A>G:p.Glu154Gly	coding	Pathogenic
5	173233101	G	T	G173233101T	NKX2-5	NM_004387.4(NKX2-5):c.443C>A:p.Ala148Glu	coding	Pathogenic
5	173233153	C	T	C173233153T	NKX2-5	NM_004387.4(NKX2-5):c.391G>A:p.Glu131Lys	coding	Pathogenic
5	173233164	G	T	G173233164T	NKX2-5	NM_004387.4(NKX2-5):c.380C>A:p.Ala127Glu	coding	Pathogenic
5	173233187	C	G	C173233187G	NKX2-5	NM_004387.4(NKX2-5):c.357G>C:p.Ala119=	coding	Benign
5	173233189	C	A	C173233189A	NKX2-5	NM_004387.4(NKX2-5):c.355G>T:p.Ala119Ser	coding	Benign/Likely_benign
5	173233210	C	A	C173233210A	NKX2-5	NM_004387.4(NKX2-5):c.335-1G>T	coding	Pathogenic
5	173233371	C	T	C173233371T	NKX2-5	NM_004387.4(NKX2-5):c.335-162G>A	coding	Benign/Likely_benign
5	173234774	T	A	T173234774A	NKX2-5	NM_004387.4(NKX2-5):c.310A>T:p.Lys104Ter	coding	Pathogenic
5	173234775	G	A	G173234775A	NKX2-5	NM_004387.4(NKX2-5):c.309C>T:p.Ala103=	coding	Benign
5	173234784	G	T	G173234784T	NKX2-5	NM_004387.4(NKX2-5):c.300C>A:p.Pro100=	coding	Benign
5	173234847	C	G	C173234847G	NKX2-5	NM_004387.4(NKX2-5):c.237G>C:p.Pro79=	coding	Benign/Likely_benign
5	173234902	G	C	G173234902C	NKX2-5	NM_004387.4(NKX2-5):c.182C>G:p.Ala61Gly	coding	Pathogenic
5	173234909	G	C	G173234909C	NKX2-5	NM_004387.4(NKX2-5):c.175C>G:p.Pro59Ala	coding	Pathogenic
5	173235021	T	C	T173235021C	NKX2-5	NM_004387.4(NKX2-5):c.63A>G:p.Glu21=	coding	Benign
5	173235040	T	A	T173235040A	NKX2-5	NM_004387.4(NKX2-5):c.44A>T:p.Lys15Ile	coding	Pathogenic
5	173325979	G	A	G173325979A	STC2	NM_003714.2(STC2):c.183C>T:p.Gly61=	coding	Benign
5	174724604	C	A	C174724604A	MSX2	NM_002449.5(MSX2):c.-56C>A	noncoding	Benign
5	174724618	C	T	C174724618T	MSX2	NM_002449.5(MSX2):c.-42C>T	noncoding	Benign/Likely_benign
5	174724643	C	G	C174724643G	MSX2	NM_002449.5(MSX2):c.-17C>G	noncoding	Benign
5	174724974	G	C	G174724974C	MSX2	NM_002449.5(MSX2):c.315G>C:p.Lys105Asn	coding	Benign/Likely_benign
5	174728995	G	A	G174728995A	MSX2	NM_002449.5(MSX2):c.380-164G>A	noncoding	Benign
5	174729165	T	C	T174729165C	MSX2	NM_002449.5(MSX2):c.386T>C:p.Met129Thr	coding	Benign
5	174729222	C	A	C174729222A	MSX2	NM_002449.5(MSX2):c.443C>A:p.Pro148His	coding	Pathogenic
5	174729294	G	A	G174729294A	MSX2	NM_002449.5(MSX2):c.515G>A:p.Arg172His	coding	Pathogenic
5	174729478	G	A	G174729478A	MSX2	NM_002449.5(MSX2):c.699G>A:p.Ala233=	coding	Benign
5	174729502	G	A	G174729502A	MSX2	NM_002449.5(MSX2):c.723G>A:p.Pro241=	coding	Benign
5	174729740	A	T	A174729740T	MSX2	NM_002449.5(MSX2):c.*157A>T	noncoding	Benign
5	174729755	G	A	G174729755A	MSX2	NM_002449.5(MSX2):c.*172G>A	noncoding	Benign
5	174729840	T	C	T174729840C	MSX2	NM_002449.5(MSX2):c.*257T>C	noncoding	Benign
5	174729932	T	C	T174729932C	MSX2	NM_002449.5(MSX2):c.*349T>C	noncoding	Benign
5	174729999	A	C	A174729999C	MSX2	NM_002449.5(MSX2):c.*416A>C	noncoding	Benign
5	174730049	G	A	G174730049A	MSX2	NM_002449.5(MSX2):c.*466G>A	noncoding	Benign
5	174730093	A	G	A174730093G	MSX2	NM_002449.5(MSX2):c.*510A>G	noncoding	Benign
5	174730218	G	A	G174730218A	MSX2	NM_002449.5(MSX2):c.*635G>A	noncoding	Benign
5	174730241	C	T	C174730241T	MSX2	NM_002449.5(MSX2):c.*658C>T	noncoding	Benign
5	174730306	A	C	A174730306C	MSX2	NM_002449.5(MSX2):c.*723A>C	noncoding	Benign
5	174730461	C	T	C174730461T	MSX2	NM_002449.5(MSX2):c.*878C>T	noncoding	Benign
5	174730590	T	A	T174730590A	MSX2	NM_002449.5(MSX2):c.*1007T>A	noncoding	Benign
5	174730633	T	C	T174730633C	MSX2	NM_002449.5(MSX2):c.*1050T>C	noncoding	Benign
5	174730708	A	G	A174730708G	MSX2	NM_002449.5(MSX2):c.*1125A>G	noncoding	Benign
5	174730729	T	C	T174730729C	MSX2	NM_002449.5(MSX2):c.*1146T>C	noncoding	Benign
5	174730759	G	C	G174730759C	MSX2	NM_002449.5(MSX2):c.*1176G>C	noncoding	Benign
5	174730761	C	T	C174730761T	MSX2	NM_002449.5(MSX2):c.*1178C>T	noncoding	Benign
5	174730789	T	C	T174730789C	MSX2	NM_002449.5(MSX2):c.*1206T>C	noncoding	Benign/Likely_benign
5	174730832	T	C	T174730832C	MSX2	NM_002449.5(MSX2):c.*1249T>C	noncoding	Benign
5	175442056	G	A	G175442056A	DRD1	NM_000794.5(DRD1):c.1044C>T:p.Tyr348=	coding	Benign
5	175442668	G	A	G175442668A	DRD1	NM_000794.5(DRD1):c.432C>T:p.Ile144=	coding	Benign
5	175492180	A	G	A175492180G	SFXN1	NM_022754.7(SFXN1):c.77A>G:p.Asn26Ser	coding	Benign
5	175492244	G	A	G175492244A	SFXN1	NM_022754.7(SFXN1):c.141G>A:p.Ala47=	coding	Benign
5	176345346	A	G	A176345346G	SIMC1	NM_001308195.2(SIMC1):c.2577A>G:p.Gln859=	coding	Benign
5	176529534	C	T	C176529534T	RNF44	NM_014901.5(RNF44):c.1125G>A:p.Ser375=	coding	Benign
5	176621218	G	T	G176621218T	SNCB	NM_003085.5(SNCB):c.368C>A:p.Pro123His	coding	Pathogenic
5	176626472	C	T	C176626472T	SNCB	NM_003085.5(SNCB):c.208G>A:p.Val70Met	coding	Pathogenic
5	176881983	G	C	G176881983C	HK3	NM_002115.3(HK3):c.2198C>G:p.Ala733Gly	coding	Benign
5	176881994	G	A	G176881994A	HK3	NM_002115.3(HK3):c.2187C>T:p.Thr729=	coding	Benign
5	176889667	C	T	C176889667T	HK3	NM_002115.3(HK3):c.708G>A:p.Pro236=	coding	Benign
5	176891429	C	T	C176891429T	HK3	NM_002115.3(HK3):c.218G>A:p.Arg73Gln	coding	Benign
5	177090800	G	A	G177090800A	FGFR4	NM_213647.3(FGFR4):c.411G>A:p.Ser137=	coding	Benign
5	177091765	C	T	C177091765T	FGFR4	NM_213647.3(FGFR4):c.684C>T:p.Asn228=	coding	Benign
5	177092729	C	T	C177092729T	FGFR4	NM_213647.3(FGFR4):c.1002C>T:p.Leu334=	coding	Benign
5	177095674	C	T	C177095674T	FGFR4	NM_213647.3(FGFR4):c.1772C>T:p.Ser591Phe	coding	Benign
5	177096185	G	A	G177096185A	FGFR4	NM_213647.3(FGFR4):c.1944+6G>A	noncoding	Benign
5	177135310	C	A	C177135310A	NSD1	NM_022455.4(NSD1):c.207C>A:p.Tyr69Ter	coding	Pathogenic
5	177135442	C	T	C177135442T	NSD1	NM_022455.4(NSD1):c.339C>T:p.Cys113=	coding	Benign/Likely_benign
5	177135455	C	G	C177135455G	NSD1	NM_022455.4(NSD1):c.352C>G:p.Pro118Ala	coding	Benign
5	177135498	G	C	G177135498C	NSD1	NM_022455.4(NSD1):c.395G>C:p.Cys132Ser	coding	Benign
5	177135583	C	T	C177135583T	NSD1	NM_022455.4(NSD1):c.480C>T:p.Asp160=	coding	Benign/Likely_benign
5	177135742	C	T	C177135742T	NSD1	NM_022455.4(NSD1):c.639C>T:p.Ser213=	coding	Benign
5	177135863	C	T	C177135863T	NSD1	NM_022455.4(NSD1):c.760C>T:p.Leu254Phe	coding	Benign/Likely_benign
5	177136078	A	G	A177136078G	NSD1	NM_022455.4(NSD1):c.927+48A>G	noncoding	Benign
5	177191939	G	A	G177191939A	NSD1	NM_022455.4(NSD1):c.983G>A:p.Trp328Ter	coding	Pathogenic
5	177203983	T	C	T177203983C	NSD1	NM_022455.4(NSD1):c.1064-137T>C	noncoding	Benign
5	177209652	T	A	T177209652A	NSD1	NM_022455.5(NSD1):c.1253T>A:p.Leu418Ter	coding	Pathogenic
5	177209661	G	A	G177209661A	NSD1	NM_022455.4(NSD1):c.1262G>A:p.Trp421Ter	coding	Pathogenic
5	177209687	C	T	C177209687T	NSD1	NM_022455.4(NSD1):c.1288C>T:p.Gln430Ter	coding	Pathogenic
5	177209709	C	G	C177209709G	NSD1	NM_022455.4(NSD1):c.1310C>G:p.Ser437Ter	coding	Pathogenic
5	177209716	C	T	C177209716T	NSD1	NM_022455.4(NSD1):c.1317C>T:p.Asn439=	coding	Benign
5	177209796	C	G	C177209796G	NSD1	NM_022455.4(NSD1):c.1397C>G:p.Ser466Ter	coding	Pathogenic
5	177209881	C	T	C177209881T	NSD1	NM_022455.4(NSD1):c.1482C>T:p.Cys494=	coding	Benign
5	177209891	C	T	C177209891T	NSD1	NM_022455.4(NSD1):c.1492C>T:p.Arg498Ter	coding	Pathogenic
5	177209914	T	C	T177209914C	NSD1	NM_022455.4(NSD1):c.1515T>C:p.Asn505=	coding	Benign
5	177209948	C	T	C177209948T	NSD1	NM_022455.4(NSD1):c.1549C>T:p.Gln517Ter	coding	Pathogenic
5	177210089	G	T	G177210089T	NSD1	NM_022455.4(NSD1):c.1690G>T:p.Ala564Ser	coding	Benign/Likely_benign
5	177210148	G	A	G177210148A	NSD1	NM_022455.4(NSD1):c.1749G>A:p.Glu583=	coding	Benign
5	177210191	T	C	T177210191C	NSD1	NM_022455.4(NSD1):c.1792T>C:p.Leu598=	coding	Benign
5	177210209	C	T	C177210209T	NSD1	NM_022455.4(NSD1):c.1810C>T:p.Arg604Ter	coding	Pathogenic
5	177210210	G	T	G177210210T	NSD1	NM_022455.4(NSD1):c.1811G>T:p.Arg604Leu	coding	Benign
5	177210215	A	T	A177210215T	NSD1	NM_022455.4(NSD1):c.1816A>T:p.Lys606Ter	coding	Pathogenic
5	177210230	C	T	C177210230T	NSD1	NM_022455.4(NSD1):c.1831C>T:p.Arg611Ter	coding	Pathogenic
5	177210239	G	T	G177210239T	NSD1	NM_022455.4(NSD1):c.1840G>T:p.Val614Leu	coding	Benign
5	177210272	G	T	G177210272T	NSD1	NM_172349.2(NSD1):c.1066G>T:p.Gly356Ter	coding	Pathogenic
5	177210293	C	T	C177210293T	NSD1	NM_022455.5(NSD1):c.1894C>T:p.Arg632Ter	coding	Pathogenic
5	177210379	C	T	C177210379T	NSD1	NM_022455.4(NSD1):c.1980C>T:p.Asn660=	coding	Benign/Likely_benign
5	177210430	T	G	T177210430G	NSD1	NM_022455.4(NSD1):c.2031T>G:p.Ser677=	coding	Benign/Likely_benign
5	177210470	G	A	G177210470A	NSD1	NM_022455.4(NSD1):c.2071G>A:p.Ala691Thr	coding	Benign
5	177210568	C	T	C177210568T	NSD1	NM_022455.4(NSD1):c.2169C>T:p.Thr723=	coding	Benign/Likely_benign
5	177210575	T	C	T177210575C	NSD1	NM_022455.4(NSD1):c.2176T>C:p.Ser726Pro	coding	Benign
5	177210641	A	G	A177210641G	NSD1	NM_022455.4(NSD1):c.2242A>G:p.Asn748Asp	coding	Benign
5	177210675	C	A	C177210675A	NSD1	NM_022455.4(NSD1):c.2276C>A:p.Ser759Ter	coding	Pathogenic
5	177210675	C	G	C177210675G	NSD1	NM_022455.4(NSD1):c.2276C>G:p.Ser759Ter	coding	Pathogenic
5	177210694	C	T	C177210694T	NSD1	NM_022455.4(NSD1):c.2295C>T:p.Asn765=	coding	Benign/Likely_benign
5	177210738	C	A	C177210738A	NSD1	NM_022455.4(NSD1):c.2339C>A:p.Ser780Ter	coding	Pathogenic
5	177210738	C	T	C177210738T	NSD1	NM_022455.4(NSD1):c.2339C>T:p.Ser780Leu	coding	Benign
5	177210761	C	T	C177210761T	NSD1	NM_022455.4(NSD1):c.2362C>T:p.Arg788Ter	coding	Pathogenic
5	177210893	A	T	A177210893T	NSD1	NM_022455.4(NSD1):c.2494A>T:p.Lys832Ter	coding	Pathogenic
5	177211000	C	A	C177211000A	NSD1	NM_022455.4(NSD1):c.2601C>A:p.Leu867=	coding	Benign
5	177211014	T	G	T177211014G	NSD1	NM_022455.5(NSD1):c.2615T>G:p.Leu872Ter	coding	Pathogenic
5	177211053	C	A	C177211053A	NSD1	NM_022455.4(NSD1):c.2654C>A:p.Ser885Ter	coding	Pathogenic
5	177211234	T	C	T177211234C	NSD1	NM_022455.4(NSD1):c.2835T>C:p.Ser945=	coding	Benign/Likely_benign
5	177211437	C	G	C177211437G	NSD1	NM_022455.4(NSD1):c.3038C>G:p.Ser1013Ter	coding	Pathogenic
5	177211466	C	T	C177211466T	NSD1	NM_022455.4(NSD1):c.3067C>T:p.Arg1023Ter	coding	Pathogenic
5	177211488	T	C	T177211488C	NSD1	NM_022455.4(NSD1):c.3089T>C:p.Leu1030Ser	coding	Benign/Likely_benign
5	177211490	C	T	C177211490T	NSD1	NM_022455.4(NSD1):c.3091C>T:p.Arg1031Ter	coding	Pathogenic
5	177211505	G	C	G177211505C	NSD1	NM_022455.4(NSD1):c.3106G>C:p.Ala1036Pro	coding	Benign
5	177211571	C	T	C177211571T	NSD1	NM_022455.5(NSD1):c.3172C>T:p.Gln1058Ter	coding	Pathogenic
5	177211586	A	G	A177211586G	NSD1	NM_022455.4(NSD1):c.3187A>G:p.Thr1063Ala	coding	Benign/Likely_benign
5	177211613	C	T	C177211613T	NSD1	NM_022455.4(NSD1):c.3214C>T:p.Arg1072Ter	coding	Pathogenic
5	177211620	G	A	G177211620A	NSD1	NM_022455.4(NSD1):c.3221G>A:p.Arg1074His	coding	Benign
5	177211629	C	G	C177211629G	NSD1	NM_022455.4(NSD1):c.3230C>G:p.Ser1077Ter	coding	Pathogenic
5	177211670	C	A	C177211670A	NSD1	NM_022455.4(NSD1):c.3271C>A:p.Leu1091Ile	coding	Benign
5	177211673	C	T	C177211673T	NSD1	NM_022455.4(NSD1):c.3274C>T:p.Gln1092Ter	coding	Pathogenic
5	177211689	T	A	T177211689A	NSD1	NM_022455.4(NSD1):c.3290T>A:p.Leu1097Ter	coding	Pathogenic
5	177211729	C	T	C177211729T	NSD1	NM_022455.4(NSD1):c.3330C>T:p.Phe1110=	coding	Benign
5	177211856	C	T	C177211856T	NSD1	NM_022455.4(NSD1):c.3457C>T:p.Gln1153Ter	coding	Pathogenic
5	177211880	C	T	C177211880T	NSD1	NM_022455.4(NSD1):c.3481C>T:p.Gln1161Ter	coding	Pathogenic
5	177211963	G	C	G177211963C	NSD1	NM_022455.4(NSD1):c.3564G>C:p.Arg1188Ser	coding	Benign/Likely_benign
5	177212104	T	C	T177212104C	NSD1	NM_022455.4(NSD1):c.3705T>C:p.Asn1235=	coding	Benign
5	177212303	C	G	C177212303G	NSD1	NM_022455.4(NSD1):c.3796+108C>G	noncoding	Benign
5	177235863	G	A	G177235863A	NSD1	NM_022455.4(NSD1):c.3839G>A:p.Trp1280Ter	coding	Pathogenic
5	177235912	A	G	A177235912G	NSD1	NM_022455.4(NSD1):c.3888A>G:p.Lys1296=	coding	Benign
5	177238236	G	C	G177238236C	NSD1	NM_022455.4(NSD1):c.3922-1G>C	noncoding	Pathogenic
5	177238273	C	T	C177238273T	NSD1	NM_022455.4(NSD1):c.3958C>T:p.Arg1320Ter	coding	Pathogenic
5	177238279	C	T	C177238279T	NSD1	NM_022455.4(NSD1):c.3964C>T:p.Arg1322Ter	coding	Pathogenic
5	177238372	G	T	G177238372T	NSD1	NM_022455.4(NSD1):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
5	177238377	C	T	C177238377T	NSD1	NM_022455.4(NSD1):c.4062C>T:p.Gly1354=	coding	Benign
5	177238391	C	G	C177238391G	NSD1	NM_022455.4(NSD1):c.4076C>G:p.Ser1359Ter	coding	Pathogenic
5	177238423	C	T	C177238423T	NSD1	NM_022455.4(NSD1):c.4108C>T:p.Gln1370Ter	coding	Pathogenic
5	177238477	G	A	G177238477A	NSD1	NM_022455.4(NSD1):c.4162G>A:p.Glu1388Lys	coding	Benign
5	177238509	T	G	T177238509G	NSD1	NM_022455.4(NSD1):c.4192+2T>G	noncoding	Pathogenic
5	177239776	C	T	C177239776T	NSD1	NM_022455.4(NSD1):c.4213C>T:p.Gln1405Ter	coding	Pathogenic
5	177239866	G	A	G177239866A	NSD1	NM_022455.4(NSD1):c.4302+1G>A	coding	Pathogenic
5	177244271	G	A	G177244271A	NSD1	NM_022455.4(NSD1):c.4378+1G>A	coding	Pathogenic/Likely_pathogenic
5	177244275	G	C	G177244275C	NSD1	NM_022455.4(NSD1):c.4378+5G>C	noncoding	Pathogenic
5	177246710	C	T	C177246710T	NSD1	NM_022455.4(NSD1):c.4411C>T:p.Arg1471Ter	coding	Pathogenic
5	177246716	C	T	C177246716T	NSD1	NM_022455.4(NSD1):c.4417C>T:p.Arg1473Ter	coding	Pathogenic
5	177246743	C	T	C177246743T	NSD1	NM_022455.4(NSD1):c.4444C>T:p.Gln1482Ter	coding	Pathogenic
5	177246792	C	G	C177246792G	NSD1	NM_022455.4(NSD1):c.4493C>G:p.Ser1498Ter	coding	Pathogenic
5	177248178	A	G	A177248178G	NSD1	NM_022455.4(NSD1):c.4498-3A>G	noncoding	Pathogenic
5	177248203	C	T	C177248203T	NSD1	NM_022455.4(NSD1):c.4520C>T:p.Thr1507Met	coding	Benign
5	177248247	G	A	G177248247A	NSD1	NM_022455.4(NSD1):c.4564G>A:p.Asp1522Asn	coding	Benign/Likely_benign
5	177251723	T	C	T177251723C	NSD1	NM_022455.4(NSD1):c.4642-7T>C	noncoding	Benign/Likely_benign
5	177251769	C	T	C177251769T	NSD1	NM_022455.4(NSD1):c.4681C>T:p.Gln1561Ter	coding	Pathogenic
5	177251841	G	T	G177251841T	NSD1	NM_022455.4(NSD1):c.4753G>T:p.Glu1585Ter	coding	Pathogenic
5	177251854	G	A	G177251854A	NSD1	NM_022455.4(NSD1):c.4765+1G>A	coding	Pathogenic
5	177256949	A	G	A177256949G	NSD1	NM_022455.4(NSD1):c.4766-2A>G	noncoding	Pathogenic
5	177256956	C	T	C177256956T	NSD1	NM_172349.2(NSD1):c.3964C>T:p.His1322Tyr	coding	Pathogenic
5	177257002	G	A	G177257002A	NSD1	NM_022455.4(NSD1):c.4817G>A:p.Cys1606Tyr	coding	Pathogenic/Likely_pathogenic
5	177257032	A	G	A177257032G	NSD1	NM_022455.5(NSD1):c.4847A>G:p.His1616Arg	coding	Pathogenic
5	177257040	T	A	T177257040A	NSD1	NM_022455.4(NSD1):c.4855T>A:p.Cys1619Ser	coding	Pathogenic
5	177257040	T	G	T177257040G	NSD1	NM_022455.4(NSD1):c.4855T>G:p.Cys1619Gly	coding	Pathogenic
5	177257068	T	C	T177257068C	NSD1	NM_022455.4(NSD1):c.4883T>C:p.Met1628Thr	coding	Benign
5	177257092	C	T	C177257092T	NSD1	NM_022455.4(NSD1):c.4907C>T:p.Ser1636Phe	coding	Pathogenic
5	177257151	G	T	G177257151T	NSD1	NM_022455.4(NSD1):c.4966G>T:p.Gly1656Cys	coding	Pathogenic
5	177257152	G	A	G177257152A	NSD1	NM_022455.4(NSD1):c.4966+1G>A	coding	Pathogenic
5	177259987	A	T	A177259987T	NSD1	NM_022455.4(NSD1):c.4967-2A>T	noncoding	Pathogenic
5	177260009	C	T	C177260009T	NSD1	NM_022455.4(NSD1):c.4987C>T:p.Arg1663Cys	coding	Pathogenic
5	177260058	C	G	C177260058G	NSD1	NM_022455.4(NSD1):c.5036C>G:p.Ser1679Ter	coding	Pathogenic
5	177260104	C	T	C177260104T	NSD1	NM_022455.4(NSD1):c.5082C>T:p.Thr1694=	coding	Benign
5	177260120	C	T	C177260120T	NSD1	NM_022455.4(NSD1):c.5098C>T:p.Arg1700Ter	coding	Pathogenic
5	177260163	C	G	C177260163G	NSD1	NM_022455.4(NSD1):c.5141C>G:p.Ser1714Ter	coding	Pathogenic
5	177260169	G	A	G177260169A	NSD1	NM_022455.4(NSD1):c.5146+1G>A	coding	Pathogenic/Likely_pathogenic
5	177267592	C	G	C177267592G	NSD1	NM_022455.4(NSD1):c.5177C>G:p.Pro1726Arg	coding	Pathogenic
5	177267597	G	C	G177267597C	NSD1	NM_022455.4(NSD1):c.5182G>C:p.Ala1728Pro	coding	Pathogenic
5	177267644	G	A	G177267644A	NSD1	NM_022455.4(NSD1):c.5229G>A:p.Trp1743Ter	coding	Pathogenic
5	177267711	C	T	C177267711T	NSD1	NM_022455.5(NSD1):c.5296C>T:p.Arg1766Ter	coding	Pathogenic
5	177267719	G	C	G177267719C	NSD1	NM_022455.4(NSD1):c.5303+1G>C	coding	Pathogenic/Likely_pathogenic
5	177269601	G	C	G177269601C	NSD1	NM_022455.4(NSD1):c.5304-1G>C	noncoding	Pathogenic/Likely_pathogenic
5	177269607	G	A	G177269607A	NSD1	NM_022455.4(NSD1):c.5309G>A:p.Trp1770Ter	coding	Pathogenic
5	177269630	C	T	C177269630T	NSD1	NM_022455.4(NSD1):c.5332C>T:p.Arg1778Ter	coding	Pathogenic
5	177269673	G	A	G177269673A	NSD1	NM_022455.4(NSD1):c.5375G>A:p.Gly1792Glu	coding	Pathogenic
5	177269723	C	T	C177269723T	NSD1	NM_022455.4(NSD1):c.5425C>T:p.Gln1809Ter	coding	Pathogenic
5	177269729	C	T	C177269729T	NSD1	NM_022455.4(NSD1):c.5431C>T:p.Arg1811Ter	coding	Pathogenic
5	177269730	G	A	G177269730A	NSD1	NM_022455.4(NSD1):c.5432G>A:p.Arg1811Gln	coding	Pathogenic
5	177269800	T	A	T177269800A	NSD1	NM_022455.4(NSD1):c.5502T>A:p.Tyr1834Ter	coding	Pathogenic
5	177269809	T	G	T177269809G	NSD1	NM_022455.5(NSD1):c.5509+2T>G	noncoding	Pathogenic
5	177273728	C	T	C177273728T	NSD1	NM_022455.4(NSD1):c.5566C>T:p.Gln1856Ter	coding	Pathogenic
5	177273743	C	T	C177273743T	NSD1	NM_022455.4(NSD1):c.5581C>T:p.Arg1861Ter	coding	Pathogenic
5	177280654	C	T	C177280654T	NSD1	NM_022455.4(NSD1):c.5712C>T:p.Pro1904=	coding	Benign/Likely_benign
5	177280682	C	T	C177280682T	NSD1	NM_022455.4(NSD1):c.5740C>T:p.Arg1914Cys	coding	Pathogenic/Likely_pathogenic
5	177280723	C	G	C177280723G	NSD1	NM_022455.4(NSD1):c.5781C>G:p.Ala1927=	coding	Benign/Likely_benign
5	177280742	C	T	C177280742T	NSD1	NM_022455.4(NSD1):c.5800C>T:p.Gln1934Ter	coding	Pathogenic
5	177280747	C	A	C177280747A	NSD1	NM_022455.4(NSD1):c.5805C>A:p.Cys1935Ter	coding	Pathogenic
5	177280754	A	T	A177280754T	NSD1	NM_022455.4(NSD1):c.5812A>T:p.Lys1938Ter	coding	Pathogenic
5	177280784	C	T	C177280784T	NSD1	NM_022455.4(NSD1):c.5842C>T:p.Arg1948Cys	coding	Pathogenic
5	177280791	T	G	T177280791G	NSD1	NM_022455.4(NSD1):c.5849T>G:p.Leu1950Ter	coding	Pathogenic
5	177280793	C	T	C177280793T	NSD1	NM_022455.4(NSD1):c.5851C>T:p.Gln1951Ter	coding	Pathogenic
5	177280796	C	T	C177280796T	NSD1	NM_022455.4(NSD1):c.5854C>T:p.Arg1952Trp	coding	Pathogenic/Likely_pathogenic
5	177280804	G	A	G177280804A	NSD1	NM_022455.4(NSD1):c.5862G>A:p.Trp1954Ter	coding	Pathogenic
5	177280804	G	C	G177280804C	NSD1	NM_022455.4(NSD1):c.5862G>C:p.Trp1954Cys	coding	Pathogenic
5	177280811	C	T	C177280811T	NSD1	NM_022455.4(NSD1):c.5869C>T:p.Arg1957Trp	coding	Benign
5	177280835	G	T	G177280835T	NSD1	NM_022455.4(NSD1):c.5892+1G>T	coding	Pathogenic
5	177282463	A	G	A177282463G	NSD1	NM_022455.4(NSD1):c.5893-2A>G	noncoding	Pathogenic
5	177282510	G	T	G177282510T	NSD1	NM_022455.4(NSD1):c.5938G>T:p.Glu1980Ter	coding	Pathogenic
5	177282522	C	T	C177282522T	NSD1	NM_022455.4(NSD1):c.5950C>T:p.Arg1984Ter	coding	Pathogenic
5	177282523	G	A	G177282523A	NSD1	NM_022455.4(NSD1):c.5951G>A:p.Arg1984Gln	coding	Pathogenic
5	177282523	G	C	G177282523C	NSD1	NM_022455.4(NSD1):c.5951G>C:p.Arg1984Pro	coding	Pathogenic
5	177282537	C	T	C177282537T	NSD1	NM_022455.4(NSD1):c.5965C>T:p.Gln1989Ter	coding	Pathogenic
5	177282561	T	C	T177282561C	NSD1	NM_022455.4(NSD1):c.5989T>C:p.Tyr1997His	coding	Pathogenic/Likely_pathogenic
5	177282562	A	G	A177282562G	NSD1	NM_022455.4(NSD1):c.5990A>G:p.Tyr1997Cys	coding	Pathogenic
5	177283546	C	G	C177283546G	NSD1	NM_022455.4(NSD1):c.6010-241C>G	noncoding	Benign
5	177283786	G	A	G177283786A	NSD1	NM_022455.4(NSD1):c.6010-1G>A	noncoding	Pathogenic
5	177283790	C	T	C177283790T	NSD1	NM_022455.4(NSD1):c.6013C>T:p.Arg2005Ter	coding	Pathogenic
5	177283791	G	A	G177283791A	NSD1	NM_022455.4(NSD1):c.6014G>A:p.Arg2005Gln	coding	Pathogenic/Likely_pathogenic
5	177283826	C	T	C177283826T	NSD1	NM_022455.4(NSD1):c.6049C>T:p.Arg2017Trp	coding	Pathogenic
5	177283827	G	A	G177283827A	NSD1	NM_022455.4(NSD1):c.6050G>A:p.Arg2017Gln	coding	Pathogenic/Likely_pathogenic
5	177283836	A	G	A177283836G	NSD1	NM_022455.4(NSD1):c.6059A>G:p.Asn2020Ser	coding	Pathogenic
5	177283847	C	T	C177283847T	NSD1	NM_022455.4(NSD1):c.6070C>T:p.Gln2024Ter	coding	Pathogenic
5	177283929	G	A	G177283929A	NSD1	NM_022455.4(NSD1):c.6151+1G>A	coding	Pathogenic
5	177288814	T	G	T177288814G	NSD1	NM_022455.4(NSD1):c.6152-5T>G	noncoding	Pathogenic
5	177288818	G	A	G177288818A	NSD1	NM_022455.4(NSD1):c.6152-1G>A	noncoding	Pathogenic
5	177288824	G	T	G177288824T	NSD1	NM_022455.4(NSD1):c.6157G>T:p.Glu2053Ter	coding	Pathogenic
5	177288837	A	G	A177288837G	NSD1	NM_022455.4(NSD1):c.6170A>G:p.Asn2057Ser	coding	Pathogenic
5	177288926	G	A	G177288926A	NSD1	NM_022455.4(NSD1):c.6258+1G>A	coding	Pathogenic
5	177292002	C	T	C177292002T	NSD1	NM_022455.4(NSD1):c.6307C>T:p.Gln2103Ter	coding	Pathogenic
5	177292005	C	T	C177292005T	NSD1	NM_022455.4(NSD1):c.6310C>T:p.Gln2104Ter	coding	Pathogenic
5	177292044	C	T	C177292044T	NSD1	NM_022455.4(NSD1):c.6349C>T:p.Arg2117Ter	coding	Pathogenic
5	177292051	A	G	A177292051G	NSD1	NM_022455.4(NSD1):c.6356A>G:p.Asp2119Gly	coding	Pathogenic/Likely_pathogenic
5	177292053	G	T	G177292053T	NSD1	NM_022455.4(NSD1):c.6358G>T:p.Glu2120Ter	coding	Pathogenic
5	177292072	A	T	A177292072T	NSD1	NM_022455.4(NSD1):c.6377A>T:p.Asp2126Val	coding	Pathogenic
5	177292088	C	G	C177292088G	NSD1	NM_022455.4(NSD1):c.6393C>G:p.Val2131=	coding	Benign
5	177292121	C	G	C177292121G	NSD1	NM_022455.4(NSD1):c.6426C>G:p.Tyr2142Ter	coding	Pathogenic
5	177292124	C	G	C177292124G	NSD1	NM_022455.4(NSD1):c.6429C>G:p.His2143Gln	coding	Pathogenic
5	177292132	G	A	G177292132A	NSD1	NM_022455.4(NSD1):c.6437G>A:p.Cys2146Tyr	coding	Pathogenic
5	177292139	T	C	T177292139C	NSD1	NM_022455.4(NSD1):c.6444T>C:p.Asn2148=	coding	Benign/Likely_benign
5	177292149	C	T	C177292149T	NSD1	NM_022455.4(NSD1):c.6454C>T:p.Arg2152Ter	coding	Pathogenic
5	177292150	G	A	G177292150A	NSD1	NM_022455.4(NSD1):c.6455G>A:p.Arg2152Gln	coding	Pathogenic
5	177292159	G	A	G177292159A	NSD1	NM_022455.4(NSD1):c.6463+1G>A	coding	Pathogenic
5	177292163	G	C	G177292163C	NSD1	NM_022455.4(NSD1):c.6463+5G>C	noncoding	Pathogenic
5	177293840	G	T	G177293840T	NSD1	NM_022455.4(NSD1):c.6472G>T:p.Glu2158Ter	coding	Pathogenic
5	177293844	G	A	G177293844A	NSD1	NM_022455.4(NSD1):c.6476G>A:p.Cys2159Tyr	coding	Pathogenic
5	177293855	C	T	C177293855T	NSD1	NM_022455.4(NSD1):c.6487C>T:p.Gln2163Ter	coding	Pathogenic
5	177293916	G	C	G177293916C	NSD1	NM_022455.4(NSD1):c.6548G>C:p.Cys2183Ser	coding	Pathogenic
5	177293921	C	T	C177293921T	NSD1	NM_022455.4(NSD1):c.6553C>T:p.Gln2185Ter	coding	Pathogenic
5	177293927	C	T	C177293927T	NSD1	NM_022455.4(NSD1):c.6559C>T:p.Arg2187Ter	coding	Pathogenic
5	177293972	T	A	T177293972A	NSD1	NM_022455.4(NSD1):c.6604T>A:p.Cys2202Ser	coding	Pathogenic
5	177293973	G	A	G177293973A	NSD1	NM_022455.4(NSD1):c.6605G>A:p.Cys2202Tyr	coding	Pathogenic
5	177294019	G	T	G177294019T	NSD1	NM_022455.5(NSD1):c.6651G>T:p.Glu2217Asp	coding	Pathogenic
5	177294024	G	A	G177294024A	NSD1	NM_022455.4(NSD1):c.6656G>A:p.Arg2219His	coding	Pathogenic
5	177294118	G	A	G177294118A	NSD1	NM_022455.4(NSD1):c.6750G>A:p.Met2250Ile	coding	Benign
5	177294150	T	C	T177294150C	NSD1	NM_022455.4(NSD1):c.6782T>C:p.Met2261Thr	coding	Benign
5	177294197	T	C	T177294197C	NSD1	NM_022455.4(NSD1):c.6829T>C:p.Leu2277=	coding	Benign
5	177294271	G	C	G177294271C	NSD1	NM_022455.4(NSD1):c.6903G>C:p.Gly2301=	coding	Benign
5	177294643	A	G	A177294643G	NSD1	NM_022455.4(NSD1):c.7275A>G:p.Leu2425=	coding	Benign/Likely_benign
5	177294718	T	C	T177294718C	NSD1	NM_022455.4(NSD1):c.7350T>C:p.Asn2450=	coding	Benign
5	177294759	G	A	G177294759A	NSD1	NM_022455.4(NSD1):c.7391G>A:p.Arg2464His	coding	Benign
5	177294771	G	A	G177294771A	NSD1	NM_022455.4(NSD1):c.7403G>A:p.Arg2468Gln	coding	Benign
5	177294943	C	T	C177294943T	NSD1	NM_022455.4(NSD1):c.7575C>T:p.Asp2525=	coding	Benign
5	177295004	G	A	G177295004A	NSD1	NM_022455.4(NSD1):c.7636G>A:p.Ala2546Thr	coding	Benign
5	177295058	G	T	G177295058T	NSD1	NM_022455.4(NSD1):c.7690G>T:p.Glu2564Ter	coding	Pathogenic
5	177295151	A	T	A177295151T	NSD1	NM_022455.4(NSD1):c.7783A>T:p.Lys2595Ter	coding	Pathogenic
5	177295218	T	C	T177295218C	NSD1	NM_022455.4(NSD1):c.7850T>C:p.Leu2617Ser	coding	Benign/Likely_benign
5	177295276	C	T	C177295276T	NSD1	NM_022455.4(NSD1):c.7908C>T:p.Leu2636=	coding	Benign/Likely_benign
5	177295334	C	T	C177295334T	NSD1	NM_022455.4(NSD1):c.7966C>T:p.Gln2656Ter	coding	Pathogenic
5	177332169	C	T	C177332169T	LMAN2	NM_006816.3(LMAN2):c.988G>A:p.Ala330Thr	coding	Benign
5	177351532	A	G	A177351532G	LMAN2	NM_006816.3(LMAN2):c.116T>C:p.Leu39Ser	coding	Benign
5	177371995	G	A	G177371995A	RGS14	NM_006480.5(RGS14):c.1621G>A:p.Glu541Lys	coding	Benign
5	177385731	G	C	G177385731C	SLC34A1	NM_003052.5(SLC34A1):c.-11G>C	noncoding	Benign
5	177385766	G	T	G177385766T	SLC34A1	NM_003052.5(SLC34A1):c.25G>T:p.Gly9Trp	coding	Benign
5	177385815	G	A	G177385815A	SLC34A1	NM_003052.5(SLC34A1):c.74G>A:p.Arg25Gln	coding	Benign
5	177386100	C	T	C177386100T	SLC34A1	NM_003052.5(SLC34A1):c.223C>T:p.Pro75Ser	coding	Benign
5	177386207	C	T	C177386207T	SLC34A1	NM_003052.5(SLC34A1):c.260-14C>T	noncoding	Benign
5	177386217	C	A	C177386217A	SLC34A1	NM_003052.5(SLC34A1):c.260-4C>A	noncoding	Benign
5	177386245	G	A	G177386245A	SLC34A1	NM_003052.5(SLC34A1):c.284G>A:p.Arg95His	coding	Benign
5	177386359	G	C	G177386359C	SLC34A1	NM_003052.5(SLC34A1):c.388+10G>C	noncoding	Benign
5	177386418	C	T	C177386418T	SLC34A1	NM_003052.5(SLC34A1):c.389-5C>T	noncoding	Benign
5	177386471	C	T	C177386471T	SLC34A1	NM_003052.5(SLC34A1):c.437C>T:p.Pro146Leu	coding	Benign
5	177386473	G	A	G177386473A	SLC34A1	NM_003052.5(SLC34A1):c.439G>A:p.Val147Met	coding	Pathogenic
5	177386492	G	C	G177386492C	SLC34A1	NM_003052.5(SLC34A1):c.458G>C:p.Gly153Ala	coding	Pathogenic
5	177386498	T	C	T177386498C	SLC34A1	NM_003052.5(SLC34A1):c.464T>C:p.Leu155Pro	coding	Pathogenic
5	177386544	C	T	C177386544T	SLC34A1	NM_003052.5(SLC34A1):c.510C>T:p.Ile170=	coding	Benign
5	177387833	G	A	G177387833A	SLC34A1	NM_003052.5(SLC34A1):c.604G>A:p.Val202Met	coding	Benign
5	177387874	G	A	G177387874A	SLC34A1	NM_003052.5(SLC34A1):c.644+1G>A	coding	Pathogenic/Likely_pathogenic
5	177388001	G	A	G177388001A	SLC34A1	NM_003052.5(SLC34A1):c.652G>A:p.Ala218Thr	coding	Benign
5	177388090	C	A	C177388090A	SLC34A1	NM_003052.5(SLC34A1):c.741C>A:p.Ile247=	coding	Benign
5	177388123	T	C	T177388123C	SLC34A1	NM_003052.5(SLC34A1):c.774T>C:p.His258=	coding	Benign
5	177388370	C	T	C177388370T	SLC34A1	NM_003052.5(SLC34A1):c.934C>T:p.Gln312Ter	coding	Pathogenic
5	177393763	T	G	T177393763G	SLC34A1	NM_003052.5(SLC34A1):c.1006T>G:p.Cys336Gly	coding	Pathogenic
5	177394193	C	T	C177394193T	SLC34A1	NM_003052.5(SLC34A1):c.1172C>T:p.Thr391Met	coding	Benign
5	177396785	C	A	C177396785A	SLC34A1	NM_003052.5(SLC34A1):c.1227C>A:p.Gly409=	coding	Benign
5	177397079	G	A	G177397079A	SLC34A1	NM_003052.5(SLC34A1):c.1416+5G>A	noncoding	Benign
5	177397849	C	T	C177397849T	F12;SLC34A1	NM_003052.5(SLC34A1):c.1483C>T:p.Arg495Cys	coding	Benign/Likely_benign
5	177398001	C	T	C177398001T	F12;SLC34A1	NM_003052.5(SLC34A1):c.1635C>T:p.Gly545=	coding	Benign
5	177398068	C	T	C177398068T	F12;SLC34A1	NM_003052.5(SLC34A1):c.1702C>T:p.His568Tyr	coding	Benign/Likely_benign
5	177398085	A	G	A177398085G	F12;SLC34A1	NM_003052.5(SLC34A1):c.1719A>G:p.Leu573=	coding	Benign/Likely_benign
5	177398465	G	A	G177398465A	F12;SLC34A1	NM_003052.5(SLC34A1):c.*179G>A	noncoding	Benign/Likely_benign
5	177398488	A	C	A177398488C	F12;SLC34A1	NM_003052.5(SLC34A1):c.*202A>C	noncoding	Benign
5	177398601	C	T	C177398601T	SLC34A1	NM_003052.5(SLC34A1):c.*315C>T	noncoding	Benign
5	177398647	T	C	T177398647C	F12;SLC34A1	NM_003052.5(SLC34A1):c.*361T>C	noncoding	Benign/Likely_benign
5	177398717	C	T	C177398717T	SLC34A1	NM_003052.5(SLC34A1):c.*431C>T	noncoding	Benign
5	177398771	G	A	G177398771A	F12;SLC34A1	NM_003052.5(SLC34A1):c.*485G>A	noncoding	Benign/Likely_benign
5	177402372	A	T	A177402372T	F12	NM_000505.3(F12):c.1768T>A:p.Cys590Ser	coding	Pathogenic
5	177403526	G	A	G177403526A	F12;SLC34A1	NM_000505.3(F12):c.1342C>T:p.Arg448Cys	coding	Benign/Likely_benign
5	177403569	G	A	G177403569A	F12;SLC34A1	NM_000505.3(F12):c.1299C>T:p.Asn433=	coding	Benign/Likely_benign
5	177403596	C	G	C177403596G	F12;SLC34A1	NM_000505.3(F12):c.1272G>C:p.Thr424=	coding	Benign/Likely_benign
5	177403626	G	A	G177403626A	F12;SLC34A1	NM_000505.4(F12):c.1251-9C>T	noncoding	Benign
5	177403994	C	G	C177403994G	F12	NM_000505.3(F12):c.1115G>C:p.Arg372Pro	coding	Pathogenic
5	177404231	G	C	G177404231C	F12	NM_000505.3(F12):c.983C>G:p.Thr328Arg	coding	Pathogenic
5	177404231	G	T	G177404231T	F12	NM_000505.4(F12):c.983C>A:p.Thr328Lys	coding	Pathogenic
5	177404284	C	G	C177404284G	F12	NM_000505.3(F12):c.930G>C:p.Arg310Ser	coding	Benign/Likely_benign
5	177404491	C	T	C177404491T	F12	NM_000505.3(F12):c.800+8G>A	noncoding	Benign
5	177404543	G	A	G177404543A	F12	NM_000505.3(F12):c.756C>T:p.Ala252=	coding	Benign
5	177404588	G	A	G177404588A	F12	NM_000505.3(F12):c.711C>T:p.Pro237=	coding	Benign
5	177404825	C	G	C177404825G	F12	NM_000505.4(F12):c.619G>C:p.Ala207Pro	coding	Benign
5	177404914	G	A	G177404914A	F12	NM_000505.4(F12):c.530C>T:p.Ala177Val	coding	Benign
5	177405165	G	C	G177405165C	F12	NM_000505.3(F12):c.418C>G:p.Leu140Val	coding	Benign/Likely_benign
5	177405197	G	A	G177405197A	F12	NM_000505.3(F12):c.398-12C>T	noncoding	Benign/Likely_benign
5	177409531	A	G	A177409531G	F12	NM_000505.4(F12):c.-4T>C	noncoding	Benign
5	177458054	G	A	G177458054A	DBN1	NM_080881.2(DBN1):c.1782+4C>T	noncoding	Benign
5	177459210	C	T	C177459210T	DBN1	NM_080881.2(DBN1):c.1020G>A:p.Pro340=	coding	Benign
5	177459228	G	A	G177459228A	DBN1	NM_080881.2(DBN1):c.1002C>T:p.Pro334=	coding	Benign
5	177466941	C	T	C177466941T	DBN1	NM_080881.2(DBN1):c.683G>A:p.Arg228Gln	coding	Benign
5	177467559	G	A	G177467559A	DBN1	NM_080881.2(DBN1):c.405C>T:p.Leu135=	coding	Benign
5	177468225	G	A	G177468225A	DBN1	NM_080881.2(DBN1):c.149-5C>T	noncoding	Benign
5	177468869	A	G	A177468869G	DBN1	NM_080881.2(DBN1):c.123T>C:p.Asp41=	coding	Benign
5	177483716	G	A	G177483716A	PDLIM7	NM_005451.5(PDLIM7):c.1302C>T:p.Asn434=	coding	Benign
5	177484155	C	A	C177484155A	PDLIM7	NM_005451.5(PDLIM7):c.1086G>T:p.Val362=	coding	Benign
5	177489464	G	A	G177489464A	PDLIM7	NM_005451.5(PDLIM7):c.798C>T:p.Ala266=	coding	Benign
5	177489554	C	T	C177489554T	PDLIM7	NM_005451.5(PDLIM7):c.708G>A:p.Pro236=	coding	Benign
5	177490914	G	A	G177490914A	PDLIM7	NM_005451.5(PDLIM7):c.536-8C>T	noncoding	Benign
5	177491068	C	T	C177491068T	PDLIM7	NM_005451.5(PDLIM7):c.477G>A:p.Pro159=	coding	Benign
5	177511717	G	A	G177511717A	DDX41	NM_016222.4(DDX41):c.*74C>T	noncoding	Benign
5	177512145	G	A	G177512145A	DDX41	NM_016222.4(DDX41):c.1683C>T:p.Pro561=	coding	Benign
5	177512566	G	A	G177512566A	DDX41	NM_016222.4(DDX41):c.1479C>T:p.Ser493=	coding	Benign
5	177513080	C	T	C177513080T	DDX41	NM_016222.4(DDX41):c.1233G>A:p.Glu411=	coding	Benign
5	177515259	C	T	C177515259T	DDX41	NM_016222.4(DDX41):c.572-1G>A	coding	Pathogenic
5	177516122	G	A	G177516122A	DDX41	NM_016222.4(DDX41):c.370C>T:p.Arg124Ter	coding	Pathogenic
5	177516128	C	A	C177516128A	DDX41	NM_016222.4(DDX41):c.364G>T:p.Glu122Ter	coding	Pathogenic
5	177516451	A	C	A177516451C	DDX41	NM_016222.4(DDX41):c.139-4T>G	noncoding	Benign
5	177516943	C	T	C177516943T	DDX41	NM_016222.4(DDX41):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
5	177604250	T	C	T177604250C	B4GALT7	NM_007255.3(B4GALT7):c.122T>C:p.Leu41Pro	coding	Pathogenic
5	177604347	T	C	T177604347C	B4GALT7	NM_007255.3(B4GALT7):c.219T>C:p.Arg73=	coding	Benign
5	177604425	G	T	G177604425T	B4GALT7	NM_007255.3(B4GALT7):c.297G>T:p.Val99=	coding	Benign
5	177604539	C	T	C177604539T	B4GALT7	NM_007255.3(B4GALT7):c.411C>T:p.Phe137=	coding	Benign/Likely_benign
5	177604553	C	G	C177604553G	B4GALT7	NM_007255.3(B4GALT7):c.413+12C>G	noncoding	Benign
5	177604601	C	G	C177604601G	B4GALT7	NM_007255.3(B4GALT7):c.413+60C>G	noncoding	Benign
5	177606974	C	T	C177606974T	B4GALT7	NM_007255.3(B4GALT7):c.414-328C>T	noncoding	Benign
5	177607282	G	A	G177607282A	B4GALT7	NM_007255.3(B4GALT7):c.414-20G>A	noncoding	Benign
5	177607320	C	T	C177607320T	B4GALT7	NM_007255.3(B4GALT7):c.432C>T:p.Leu144=	coding	Benign/Likely_benign
5	177607445	C	A	C177607445A	B4GALT7	NM_007255.3(B4GALT7):c.557C>A:p.Ala186Asp	coding	Pathogenic
5	177607505	T	C	T177607505C	B4GALT7	NM_007255.3(B4GALT7):c.617T>C:p.Leu206Pro	coding	Pathogenic
5	177607785	T	C	T177607785C	B4GALT7	NM_007255.3(B4GALT7):c.639+258T>C	noncoding	Benign
5	177608540	G	A	G177608540A	B4GALT7	NM_007255.3(B4GALT7):c.641G>A:p.Cys214Tyr	coding	Pathogenic
5	177608963	T	C	T177608963C	B4GALT7	NM_007255.3(B4GALT7):c.777T>C:p.His259=	coding	Benign
5	177608994	C	T	C177608994T	B4GALT7	NM_007255.3(B4GALT7):c.808C>T:p.Arg270Cys	coding	Pathogenic
5	177609034	T	C	T177609034C	B4GALT7	NM_007255.3(B4GALT7):c.828+20T>C	noncoding	Benign
5	177609042	A	G	A177609042G	B4GALT7	NM_007255.3(B4GALT7):c.828+28A>G	noncoding	Benign
5	177609540	G	T	G177609540T	B4GALT7	NM_007255.3(B4GALT7):c.829G>T:p.Glu277Ter	coding	Pathogenic
5	177992290	G	A	G177992290A	PROP1	NM_006261.4(PROP1):c.*419C>T	noncoding	Benign
5	177992355	C	T	C177992355T	PROP1	NM_006261.4(PROP1):c.*354G>A	noncoding	Benign
5	177992586	A	G	A177992586G	PROP1	NM_006261.4(PROP1):c.*123T>C	noncoding	Benign
5	177992966	C	T	C177992966T	PROP1	NM_006261.4(PROP1):c.424G>A:p.Ala142Thr	coding	Benign
5	177993041	A	T	A177993041T	PROP1	NM_006261.4(PROP1):c.349T>A:p.Phe117Ile	coding	Pathogenic/Likely_pathogenic
5	177994153	G	A	G177994153A	PROP1	NM_006261.4(PROP1):c.295C>T:p.Arg99Ter	coding	Pathogenic
5	177994185	A	G	A177994185G	PROP1	NM_006261.4(PROP1):c.263T>C:p.Phe88Ser	coding	Pathogenic
5	177994230	C	T	C177994230T	PROP1	NM_006261.4(PROP1):c.218G>A:p.Arg73His	coding	Pathogenic
5	177994231	G	A	G177994231A	PROP1	NM_006261.4(PROP1):c.217C>T:p.Arg73Cys	coding	Pathogenic
5	177994274	C	T	C177994274T	PROP1	NM_006261.4(PROP1):c.174G>A:p.Pro58=	coding	Benign/Likely_benign
5	177994296	C	G	C177994296G	PROP1	NM_006261.4(PROP1):c.152G>C:p.Gly51Ala	coding	Benign
5	177995822	C	T	C177995822T	PROP1	NM_006261.4(PROP1):c.109+3G>A	noncoding	Benign
5	177995907	A	G	A177995907G	PROP1	NM_006261.4(PROP1):c.27T>C:p.Ala9=	coding	Benign
5	177995932	A	G	A177995932G	PROP1	NM_006261.4(PROP1):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
5	177996143	T	G	T177996143G	PROP1	NM_006261.4(PROP1):c.-210A>C	noncoding	Benign
5	178149715	A	T	A178149715T	NHP2	NM_022762.5(RMND5B):c.*1683A>T	coding	Pathogenic
5	178149760	A	G	A178149760G	NHP2	NM_022762.5(RMND5B):c.*1728A>G	coding	Pathogenic
5	178149799	C	T	C178149799T	NHP2	NM_022762.5(RMND5B):c.*1767C>T	coding	Pathogenic
5	178149823	C	T	C178149823T	NHP2	NM_022762.5(RMND5B):c.*1791C>T	coding	Benign
5	178149824	G	A	G178149824A	NHP2	NM_022762.5(RMND5B):c.*1792G>A	coding	Benign
5	178150922	C	T	C178150922T	NHP2	NM_017838.3(NHP2):c.302G>A:p.Arg101Gln	coding	Benign/Likely_benign
5	178150954	T	C	T178150954C	NHP2	NM_017838.3(NHP2):c.270A>G:p.Val90=	coding	Benign
5	178153642	C	G	C178153642G	NHP2	NM_017838.3(NHP2):c.160+16G>C	noncoding	Benign
5	178211964	T	A	T178211964A	PHYKPL	NM_153373.4(PHYKPL):c.1310A>T:p.Glu437Val	coding	Pathogenic
5	178222564	C	T	C178222564T	PHYKPL	NM_153373.4(PHYKPL):c.718G>A:p.Gly240Arg	coding	Pathogenic
5	178618643	G	A	G178618643A	CLK4	NM_020666.3(CLK4):c.297C>T:p.Ile99=	coding	Benign
5	178981782	C	T	C178981782T	GRM6	NM_000843.4(GRM6):c.2509G>A:p.Val837Ile	coding	Benign
5	178986132	G	A	G178986132A	GRM6	NM_000843.4(GRM6):c.2122C>T:p.Gln708Ter	coding	Pathogenic
5	178986200	G	C	G178986200C	GRM6	NM_000843.4(GRM6):c.2054C>G:p.Ser685Trp	coding	Benign
5	178986213	G	A	G178986213A	GRM6	NM_000843.4(GRM6):c.2041C>T:p.Gln681Ter	coding	Pathogenic
5	178986298	G	A	G178986298A	GRM6	NM_000843.4(GRM6):c.1956C>T:p.Ala652=	coding	Benign
5	178986301	G	A	G178986301A	GRM6	NM_000843.4(GRM6):c.1953C>T:p.Ala651=	coding	Benign/Likely_benign
5	178986310	C	T	C178986310T	GRM6	NM_000843.4(GRM6):c.1944G>A:p.Ala648=	coding	Benign
5	178986379	G	A	G178986379A	GRM6	NM_000843.4(GRM6):c.1875C>T:p.Tyr625=	coding	Benign/Likely_benign
5	178986393	G	A	G178986393A	GRM6	NM_000843.4(GRM6):c.1861C>T:p.Arg621Ter	coding	Pathogenic
5	178986406	G	A	G178986406A	GRM6	NM_000843.4(GRM6):c.1848C>T:p.Val616=	coding	Benign
5	178986463	G	A	G178986463A	GRM6	NM_000843.4(GRM6):c.1791C>T:p.Ile597=	coding	Benign
5	178986475	G	A	G178986475A	GRM6	NM_000843.4(GRM6):c.1779C>T:p.Ala593=	coding	Benign
5	178986522	G	A	G178986522A	GRM6	NM_000843.4(GRM6):c.1732C>T:p.Arg578Cys	coding	Benign
5	178986548	G	A	G178986548A	GRM6	NM_000843.4(GRM6):c.1706C>T:p.Thr569Met	coding	Benign
5	178986688	G	A	G178986688A	GRM6	NM_000843.4(GRM6):c.1566C>T:p.Cys522=	coding	Benign
5	178986689	C	T	C178986689T	GRM6	NM_000843.4(GRM6):c.1565G>A:p.Cys522Tyr	coding	Pathogenic
5	178986721	G	A	G178986721A	GRM6	NM_000843.4(GRM6):c.1533C>T:p.His511=	coding	Benign
5	178986722	T	C	T178986722C	GRM6	NM_000843.4(GRM6):c.1532A>G:p.His511Arg	coding	Benign
5	178986876	G	A	G178986876A	GRM6	NM_000843.4(GRM6):c.1462C>T:p.Gln488Ter	coding	Pathogenic
5	178986928	G	A	G178986928A	GRM6	NM_000843.4(GRM6):c.1410C>T:p.Tyr470=	coding	Benign
5	178986946	T	C	T178986946C	GRM6	NM_000843.4(GRM6):c.1392A>G:p.Gly464=	coding	Benign
5	178988936	A	G	A178988936G	GRM6	NM_000843.4(GRM6):c.1353T>C:p.Asn451=	coding	Benign
5	178988981	A	G	A178988981G	GRM6	NM_000843.4(GRM6):c.1308T>C:p.Thr436=	coding	Benign
5	178988982	G	A	G178988982A	GRM6	NM_000843.4(GRM6):c.1307C>T:p.Thr436Ile	coding	Benign/Likely_benign
5	178989062	G	A	G178989062A	GRM6	NM_000843.4(GRM6):c.1227C>T:p.Tyr409=	coding	Benign
5	178989117	C	T	C178989117T	GRM6	NM_000843.4(GRM6):c.1172G>A:p.Arg391Gln	coding	Benign
5	178989287	G	A	G178989287A	GRM6	NM_000843.4(GRM6):c.1131C>T:p.Asp377=	coding	Benign
5	178991471	C	T	C178991471T	GRM6	NM_000843.4(GRM6):c.810G>A:p.Thr270=	coding	Benign
5	178991548	T	C	T178991548C	GRM6	NM_000843.4(GRM6):c.733A>G:p.Ile245Val	coding	Benign
5	178991554	C	A	C178991554A	GRM6	NM_000843.4(GRM6):c.727G>T:p.Val243Phe	coding	Benign/Likely_benign
5	178991876	G	A	G178991876A	GRM6	NM_000843.4(GRM6):c.712C>T:p.Arg238Ter	coding	Pathogenic
5	178994497	C	T	C178994497T	GRM6	NM_000843.4(GRM6):c.448G>A:p.Gly150Ser	coding	Pathogenic
5	178994593	G	T	G178994593T	GRM6	NM_000843.4(GRM6):c.352C>A:p.Arg118Ser	coding	Benign
5	178994769	T	G	T178994769G	GRM6	NM_000843.4(GRM6):c.176A>C:p.Gln59Pro	coding	Benign
5	178994873	C	T	C178994873T	GRM6	NM_000843.4(GRM6):c.72G>A:p.Ala24=	coding	Benign
5	178994926	C	T	C178994926T	GRM6	NM_000843.4(GRM6):c.19G>A:p.Ala7Thr	coding	Benign/Likely_benign
5	179110915	A	T	A179110915T	ADAMTS2	NM_014244.5(ADAMTS2):c.*2952T>A	noncoding	Benign
5	179110916	C	T	C179110916T	ADAMTS2	NM_014244.5(ADAMTS2):c.*2951G>A	noncoding	Benign
5	179110949	C	T	C179110949T	ADAMTS2	NM_014244.5(ADAMTS2):c.*2918G>A	noncoding	Benign
5	179111428	G	A	G179111428A	ADAMTS2	NM_014244.5(ADAMTS2):c.*2439C>T	noncoding	Benign
5	179111471	G	A	G179111471A	ADAMTS2	NM_014244.5(ADAMTS2):c.*2396C>T	noncoding	Benign
5	179111566	G	A	G179111566A	ADAMTS2	NM_014244.5(ADAMTS2):c.*2301C>T	noncoding	Benign
5	179112048	C	T	C179112048T	ADAMTS2	NM_014244.5(ADAMTS2):c.*1819G>A	noncoding	Benign
5	179112148	A	G	A179112148G	ADAMTS2	NM_014244.5(ADAMTS2):c.*1719T>C	noncoding	Benign
5	179112281	T	C	T179112281C	ADAMTS2	NM_014244.5(ADAMTS2):c.*1586A>G	noncoding	Benign
5	179112381	G	T	G179112381T	ADAMTS2	NM_014244.5(ADAMTS2):c.*1486C>A	noncoding	Benign
5	179112399	T	C	T179112399C	ADAMTS2	NM_014244.5(ADAMTS2):c.*1468A>G	noncoding	Benign
5	179112620	G	A	G179112620A	ADAMTS2	NM_014244.5(ADAMTS2):c.*1247C>T	noncoding	Benign
5	179113014	C	A	C179113014A	ADAMTS2	NM_014244.5(ADAMTS2):c.*853G>T	noncoding	Benign
5	179113020	G	A	G179113020A	ADAMTS2	NM_014244.5(ADAMTS2):c.*847C>T	noncoding	Benign
5	179113025	A	G	A179113025G	ADAMTS2	NM_014244.5(ADAMTS2):c.*842T>C	noncoding	Benign
5	179113333	C	T	C179113333T	ADAMTS2	NM_014244.5(ADAMTS2):c.*534G>A	noncoding	Benign
5	179113422	C	T	C179113422T	ADAMTS2	NM_014244.5(ADAMTS2):c.*445G>A	noncoding	Benign
5	179113579	C	T	C179113579T	ADAMTS2	NM_014244.5(ADAMTS2):c.*288G>A	noncoding	Benign
5	179113655	T	G	T179113655G	ADAMTS2	NM_014244.5(ADAMTS2):c.*212A>C	noncoding	Benign
5	179113974	G	A	G179113974A	ADAMTS2	NM_014244.5(ADAMTS2):c.3529C>T:p.Pro1177Ser	coding	Benign
5	179113997	C	A	C179113997A	ADAMTS2	NM_014244.5(ADAMTS2):c.3506G>T:p.Gly1169Val	coding	Benign
5	179114023	G	T	G179114023T	ADAMTS2	NM_014244.5(ADAMTS2):c.3480C>A:p.Ala1160=	coding	Benign
5	179114224	A	G	A179114224G	ADAMTS2	NM_014244.5(ADAMTS2):c.3279T>C:p.Cys1093=	coding	Benign/Likely_benign
5	179122644	G	A	G179122644A	ADAMTS2	NM_014244.5(ADAMTS2):c.3088C>T:p.Arg1030Ter	coding	Pathogenic
5	179122718	G	A	G179122718A	ADAMTS2	NM_014244.5(ADAMTS2):c.3014C>T:p.Ala1005Val	coding	Benign/Likely_benign
5	179122789	C	T	C179122789T	ADAMTS2	NM_014244.5(ADAMTS2):c.2959-16G>A	noncoding	Benign
5	179122790	G	A	G179122790A	ADAMTS2	NM_014244.5(ADAMTS2):c.2959-17C>T	noncoding	Benign
5	179122967	A	C	A179122967C	ADAMTS2	NM_014244.5(ADAMTS2):c.2959-194T>G	noncoding	Benign
5	179125168	G	A	G179125168A	ADAMTS2	NM_014244.5(ADAMTS2):c.2763C>T:p.Gly921=	coding	Benign
5	179125714	G	A	G179125714A	ADAMTS2	NM_014244.5(ADAMTS2):c.2750+284C>T	noncoding	Benign
5	179126018	T	C	T179126018C	ADAMTS2	NM_014244.5(ADAMTS2):c.2730A>G:p.Pro910=	coding	Benign
5	179126449	A	G	A179126449G	ADAMTS2	NM_014244.5(ADAMTS2):c.2618-319T>C	noncoding	Benign
5	179128044	G	A	G179128044A	ADAMTS2	NM_014244.5(ADAMTS2):c.2532C>T:p.Asp844=	coding	Benign
5	179128096	C	T	C179128096T	ADAMTS2	NM_014244.5(ADAMTS2):c.2480G>A:p.Arg827Gln	coding	Benign/Likely_benign
5	179130004	C	T	C179130004T	ADAMTS2	NM_014244.5(ADAMTS2):c.2385G>A:p.Trp795Ter	coding	Pathogenic
5	179130106	T	C	T179130106C	ADAMTS2	NM_014244.5(ADAMTS2):c.2291-8A>G	noncoding	Benign
5	179132584	A	G	A179132584G	ADAMTS2	NM_014244.5(ADAMTS2):c.2209+193T>C	noncoding	Benign
5	179132886	G	A	G179132886A	ADAMTS2	NM_014244.5(ADAMTS2):c.2100C>T:p.Asp700=	coding	Benign
5	179133090	G	A	G179133090A	ADAMTS2	NM_014244.5(ADAMTS2):c.2086-190C>T	noncoding	Benign
5	179135642	C	T	C179135642T	ADAMTS2	NM_014244.5(ADAMTS2):c.2085+267G>A	noncoding	Benign
5	179135643	A	G	A179135643G	ADAMTS2	NM_014244.5(ADAMTS2):c.2085+266T>C	noncoding	Benign
5	179135898	T	C	T179135898C	ADAMTS2	NM_014244.5(ADAMTS2):c.2085+11A>G	noncoding	Benign/Likely_benign
5	179135921	G	A	G179135921A	ADAMTS2	NM_014244.5(ADAMTS2):c.2073C>T:p.Arg691=	coding	Benign/Likely_benign
5	179135966	G	A	G179135966A	ADAMTS2	NM_014244.5(ADAMTS2):c.2028C>T:p.Asp676=	coding	Benign
5	179136001	C	T	C179136001T	ADAMTS2	NM_014244.5(ADAMTS2):c.1993G>A:p.Gly665Arg	coding	Benign/Likely_benign
5	179136361	T	C	T179136361C	ADAMTS2	NM_014244.5(ADAMTS2):c.1952-319A>G	noncoding	Benign
5	179137498	C	T	C179137498T	ADAMTS2	NM_014244.5(ADAMTS2):c.1951+271G>A	noncoding	Benign
5	179137812	G	A	G179137812A	ADAMTS2	NM_014244.5(ADAMTS2):c.1908C>T:p.His636=	coding	Benign
5	179137917	C	T	C179137917T	ADAMTS2	NM_014244.5(ADAMTS2):c.1803G>A:p.Ser601=	coding	Benign
5	179138236	C	T	C179138236T	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-292G>A	noncoding	Benign
5	179139970	G	A	G179139970A	ADAMTS2	NM_014244.5(ADAMTS2):c.1695C>T:p.Gly565=	coding	Benign/Likely_benign
5	179140021	T	C	T179140021C	ADAMTS2	NM_014244.5(ADAMTS2):c.1644A>G:p.Gly548=	coding	Benign/Likely_benign
5	179140053	A	G	A179140053G	ADAMTS2	NM_014244.5(ADAMTS2):c.1630-18T>C	noncoding	Benign
5	179152133	C	T	C179152133T	ADAMTS2	NM_014244.5(ADAMTS2):c.1629+9G>A	noncoding	Benign/Likely_benign
5	179152175	G	C	G179152175C	ADAMTS2	NM_014244.5(ADAMTS2):c.1596C>G:p.Pro532=	coding	Benign
5	179152393	T	C	T179152393C	ADAMTS2	NM_014244.5(ADAMTS2):c.1516-138A>G	noncoding	Benign
5	179153494	C	T	C179153494T	ADAMTS2	NM_014244.5(ADAMTS2):c.1512G>A:p.Thr504=	coding	Benign/Likely_benign
5	179153548	G	A	G179153548A	ADAMTS2	NM_014244.5(ADAMTS2):c.1458C>T:p.Tyr486=	coding	Benign/Likely_benign
5	179153645	G	A	G179153645A	ADAMTS2	NM_014244.5(ADAMTS2):c.1383-22C>T	noncoding	Benign
5	179154123	C	T	C179154123T	ADAMTS2	NM_014244.5(ADAMTS2):c.1308G>A:p.Ala436=	coding	Benign/Likely_benign
5	179154150	G	A	G179154150A	ADAMTS2	NM_014244.5(ADAMTS2):c.1281C>T:p.Asp427=	coding	Benign
5	179154796	C	T	C179154796T	ADAMTS2	NM_014244.5(ADAMTS2):c.1238+18G>A	noncoding	Benign
5	179154858	G	A	G179154858A	ADAMTS2	NM_014244.5(ADAMTS2):c.1194C>T:p.Asp398=	coding	Benign
5	179159040	C	A	C179159040A	ADAMTS2	NM_014244.5(ADAMTS2):c.976-161G>T	noncoding	Benign
5	179181111	G	A	G179181111A	ADAMTS2	NM_014244.5(ADAMTS2):c.936C>T:p.Asn312=	coding	Benign
5	179181340	C	T	C179181340T	ADAMTS2	NM_014244.5(ADAMTS2):c.892-185G>A	noncoding	Benign
5	179207480	G	C	G179207480C	ADAMTS2	NM_014244.5(ADAMTS2):c.891+33C>G	noncoding	Benign
5	179207546	G	A	G179207546A	ADAMTS2	NM_014244.5(ADAMTS2):c.858C>T:p.His286=	coding	Benign
5	179207615	G	A	G179207615A	ADAMTS2	NM_014244.5(ADAMTS2):c.789C>T:p.Asp263=	coding	Benign/Likely_benign
5	179207618	C	T	C179207618T	ADAMTS2	NM_014244.5(ADAMTS2):c.786G>A:p.Ala262=	coding	Benign
5	179207640	C	T	C179207640T	ADAMTS2	NM_014244.5(ADAMTS2):c.764G>A:p.Arg255Gln	coding	Benign/Likely_benign
5	179207671	C	T	C179207671T	ADAMTS2	NM_014244.5(ADAMTS2):c.733G>A:p.Val245Ile	coding	Benign
5	179207682	C	T	C179207682T	ADAMTS2	NM_014244.5(ADAMTS2):c.722G>A:p.Arg241His	coding	Benign
5	179207703	T	C	T179207703C	ADAMTS2	NM_014244.5(ADAMTS2):c.701A>G:p.Asp234Gly	coding	Benign
5	179207977	A	T	A179207977T	ADAMTS2	NM_014244.5(ADAMTS2):c.689-262T>A	noncoding	Benign
5	179208004	C	T	C179208004T	ADAMTS2	NM_014244.5(ADAMTS2):c.689-289G>A	noncoding	Benign
5	179272926	G	A	G179272926A	ADAMTS2	NM_014244.5(ADAMTS2):c.673C>T:p.Gln225Ter	coding	Pathogenic
5	179273003	G	A	G179273003A	ADAMTS2	NM_014244.5(ADAMTS2):c.596C>T:p.Ala199Val	coding	Benign/Likely_benign
5	179343484	C	A	C179343484A	ADAMTS2	NM_014244.5(ADAMTS2):c.534+283G>T	noncoding	Benign
5	179343717	A	G	A179343717G	ADAMTS2	NM_014244.5(ADAMTS2):c.534+50T>C	noncoding	Benign
5	179343758	C	G	C179343758G	ADAMTS2	NM_014244.5(ADAMTS2):c.534+9G>C	noncoding	Benign
5	179343878	G	A	G179343878A	ADAMTS2	NM_014244.5(ADAMTS2):c.423C>T:p.Gly141=	coding	Benign
5	179343980	A	G	A179343980G	ADAMTS2	NM_014244.5(ADAMTS2):c.321T>C:p.Ser107=	coding	Benign
5	179344081	C	T	C179344081T	ADAMTS2	NM_014244.5(ADAMTS2):c.220G>A:p.Val74Met	coding	Benign
5	179344914	T	C	T179344914C	ADAMTS2	NM_014244.5(ADAMTS2):c.139+276A>G	noncoding	Benign
5	179345630	C	G	C179345630G	ADAMTS2	NC_000005.10:g.179345630C>G	noncoding	Benign
5	179616196	G	A	G179616196A	HNRNPH1	NM_001257293.2(HNRNPH1):c.1230C>T:p.Gly410=	coding	Benign
5	179618269	T	C	T179618269C	HNRNPH1	NM_001257293.2(HNRNPH1):c.591A>G:p.Pro197=	coding	Benign
5	179733401	G	C	G179733401C	MAML1	NM_014757.5(MAML1):c.289G>C:p.Gly97Arg	coding	Benign
5	179766384	C	T	C179766384T	MAML1	NM_014757.5(MAML1):c.1374C>T:p.Asp458=	coding	Benign
5	179773896	G	A	G179773896A	MAML1	NM_014757.5(MAML1):c.2070G>A:p.Gly690=	coding	Benign
5	179774297	C	T	C179774297T	MAML1	NM_014757.5(MAML1):c.2471C>T:p.Pro824Leu	coding	Benign
5	179774539	C	G	C179774539G	MAML1	NM_014757.5(MAML1):c.2713C>G:p.Pro905Ala	coding	Benign
5	179794104	G	A	G179794104A	LTC4S	NM_145867.2(LTC4S):c.24G>A:p.Leu8=	coding	Benign
5	179820912	G	A	G179820912A	SQSTM1	NM_003900.5(SQSTM1):c.-25G>A	noncoding	Benign
5	179820938	T	A	T179820938A	SQSTM1	NM_003900.5(SQSTM1):c.2T>A:p.Met1Lys	coding	Pathogenic
5	179821119	C	T	C179821119T	SQSTM1	NM_003900.5(SQSTM1):c.183C>T:p.Gly61=	coding	Benign/Likely_benign
5	179821121	G	T	G179821121T	SQSTM1	NM_003900.5(SQSTM1):c.185G>T:p.Gly62Val	coding	Benign
5	179823906	C	T	C179823906T	SQSTM1	NM_003900.5(SQSTM1):c.350C>T:p.Ala117Val	coding	Benign/Likely_benign
5	179823934	G	A	G179823934A	SQSTM1	NM_003900.5(SQSTM1):c.378G>A:p.Val126=	coding	Benign
5	179825184	A	G	A179825184G	SQSTM1	NM_003900.5(SQSTM1):c.712A>G:p.Lys238Glu	coding	Benign/Likely_benign
5	179833096	A	G	A179833096G	SQSTM1	NM_003900.5(SQSTM1):c.819A>G:p.Pro273=	coding	Benign/Likely_benign
5	179833099	G	C	G179833099C	SQSTM1	NM_003900.5(SQSTM1):c.822G>C:p.Glu274Asp	coding	Benign/Likely_benign
5	179833153	C	T	C179833153T	SQSTM1	NM_003900.5(SQSTM1):c.876C>T:p.Asp292=	coding	Benign
5	179833165	G	A	G179833165A	SQSTM1	NM_003900.5(SQSTM1):c.888G>A:p.Pro296=	coding	Benign
5	179833183	C	T	C179833183T	SQSTM1	NM_003900.5(SQSTM1):c.906C>T:p.Gly302=	coding	Benign
5	179833213	G	A	G179833213A	SQSTM1	NM_003900.5(SQSTM1):c.936G>A:p.Arg312=	coding	Benign
5	179833231	C	T	C179833231T	SQSTM1	NM_003900.5(SQSTM1):c.954C>T:p.Ser318=	coding	Benign
5	179833232	G	A	G179833232A	SQSTM1	NM_003900.5(SQSTM1):c.955G>A:p.Glu319Lys	coding	Benign
5	179833238	C	T	C179833238T	SQSTM1	NM_003900.5(SQSTM1):c.961C>T:p.Arg321Cys	coding	Benign/Likely_benign
5	179833601	G	A	G179833601A	SQSTM1	NM_003900.5(SQSTM1):c.984G>A:p.Ser328=	coding	Benign
5	179833612	C	G	C179833612G	SQSTM1	NM_003900.5(SQSTM1):c.995C>G:p.Ser332Ter	coding	Pathogenic
5	179833655	G	A	G179833655A	SQSTM1	NM_003900.5(SQSTM1):c.1038G>A:p.Val346=	coding	Benign/Likely_benign
5	179833661	G	A	G179833661A	SQSTM1	NM_003900.5(SQSTM1):c.1044G>A:p.Pro348=	coding	Benign
5	179833749	A	T	A179833749T	SQSTM1	NM_003900.5(SQSTM1):c.1132A>T:p.Lys378Ter	coding	Pathogenic
5	179833783	G	A	G179833783A	SQSTM1	NM_003900.5(SQSTM1):c.1165+1G>A	coding	Pathogenic
5	179833791	A	G	A179833791G	SQSTM1	NM_003900.5(SQSTM1):c.1165+9A>G	noncoding	Benign
5	179836446	G	A	G179836446A	SQSTM1	NM_003900.5(SQSTM1):c.1176G>A:p.Pro392=	coding	Benign/Likely_benign
5	179836481	T	C	T179836481C	SQSTM1	NM_003900.5(SQSTM1):c.1211T>C:p.Met404Thr	coding	Pathogenic
5	179836515	G	A	G179836515A	SQSTM1	NM_003900.5(SQSTM1):c.1245G>A:p.Arg415=	coding	Benign/Likely_benign
5	179836584	G	A	G179836584A	SQSTM1	NM_003900.5(SQSTM1):c.1314G>A:p.Pro438=	coding	Benign
5	179836872	C	G	C179836872G	SQSTM1	NM_003900.5(SQSTM1):c.*279C>G	noncoding	Benign
5	179837132	T	G	T179837132G	SQSTM1	NM_003900.5(SQSTM1):c.*539T>G	noncoding	Benign
5	179837731	T	C	T179837731C	SQSTM1	NM_003900.5(SQSTM1):c.*1138T>C	coding	Benign
5	179837915	G	T	G179837915T	SQSTM1	NM_003900.5(SQSTM1):c.*1322G>T	coding	Benign
5	179966867	T	C	T179966867C	RNF130	NM_018434.6(RNF130):c.1089A>G:p.Ser363=	coding	Benign
5	180318854	G	A	G180318854A	GFPT2	NM_005110.4(GFPT2):c.897C>T:p.Ala299=	coding	Benign
5	180603313	C	A	C180603313A	FLT4	NM_182925.5(FLT4):c.3971G>T:p.Arg1324Leu	coding	Benign
5	180603325	C	T	C180603325T	FLT4	NM_182925.5(FLT4):c.3959G>A:p.Arg1320Gln	coding	Benign
5	180603376	C	G	C180603376G	FLT4	NM_182925.5(FLT4):c.3908G>C:p.Gly1303Ala	coding	Benign
5	180608994	G	A	G180608994A	FLT4	NM_182925.5(FLT4):c.3867C>T:p.Ser1289=	coding	Benign
5	180609871	C	G	C180609871G	FLT4	NM_182925.5(FLT4):c.3807+34G>C	noncoding	Benign
5	180611336	G	A	G180611336A	FLT4	NM_182925.5(FLT4):c.3681C>T:p.Ala1227=	coding	Benign
5	180611443	G	A	G180611443A	FLT4	NM_182925.5(FLT4):c.3574C>T:p.Gln1192Ter	coding	Pathogenic
5	180612583	C	T	C180612583T	FLT4	NM_182925.5(FLT4):c.3460G>A:p.Gly1154Arg	coding	Benign
5	180612606	C	T	C180612606T	FLT4	NM_182925.5(FLT4):c.3437G>A:p.Arg1146His	coding	Benign
5	180613101	G	A	G180613101A	FLT4	NM_182925.5(FLT4):c.3341C>T:p.Pro1114Leu	coding	Pathogenic
5	180614083	C	T	C180614083T	FLT4	NM_182925.5(FLT4):c.3316G>A:p.Glu1106Lys	coding	Pathogenic
5	180614142	A	G	A180614142G	FLT4	NM_182925.5(FLT4):c.3257T>C:p.Ile1086Thr	coding	Pathogenic
5	180614208	T	C	T180614208C	FLT4	NM_182925.5(FLT4):c.3220-29A>G	noncoding	Benign
5	180616330	C	G	C180616330G	FLT4	NM_182925.5(FLT4):c.3219+37G>C	noncoding	Benign
5	180616388	G	A	G180616388A	FLT4	NM_182925.5(FLT4):c.3198C>T:p.Pro1066=	coding	Benign
5	180616439	G	A	G180616439A	FLT4	NM_182925.5(FLT4):c.3147C>T:p.Asp1049=	coding	Benign
5	180616455	A	G	A180616455G	FLT4	NM_182925.5(FLT4):c.3131T>C:p.Leu1044Pro	coding	Pathogenic
5	180616464	C	G	C180616464G	FLT4	NM_182925.5(FLT4):c.3122G>C:p.Arg1041Pro	coding	Pathogenic
5	180616482	T	C	T180616482C	FLT4	NM_182925.5(FLT4):c.3104A>G:p.His1035Arg	coding	Pathogenic
5	180617012	G	T	G180617012T	FLT4	NM_182925.5(FLT4):c.3002-18C>A	noncoding	Benign
5	180619209	C	T	C180619209T	FLT4	NM_182925.5(FLT4):c.2761+44G>A	noncoding	Benign
5	180619344	G	C	G180619344C	FLT4	NM_182925.5(FLT4):c.2670C>G:p.His890Gln	coding	Benign
5	180619680	C	T	C180619680T	FLT4	NM_182925.5(FLT4):c.2632G>A:p.Val878Met	coding	Pathogenic
5	180619681	G	A	G180619681A	FLT4	NM_182925.5(FLT4):c.2631C>T:p.Ala877=	coding	Benign
5	180619743	C	T	C180619743T	FLT4	NM_182925.5(FLT4):c.2569G>A:p.Gly857Arg	coding	Pathogenic
5	180619749	C	T	C180619749T	FLT4	NM_182925.5(FLT4):c.2563G>A:p.Ala855Thr	coding	Pathogenic
5	180620863	C	G	C180620863G	FLT4	NM_182925.5(FLT4):c.2299+13G>C	noncoding	Benign
5	180621003	G	C	G180621003C	FLT4	NM_182925.5(FLT4):c.2172C>G:p.Val724=	coding	Benign
5	180621035	T	C	T180621035C	FLT4	NM_182925.5(FLT4):c.2168-28A>G	noncoding	Benign
5	180621056	C	T	C180621056T	FLT4	NM_182925.5(FLT4):c.2168-49G>A	noncoding	Benign
5	180621641	G	A	G180621641A	FLT4	NM_182925.5(FLT4):c.1921C>T:p.Pro641Ser	coding	Benign/Likely_benign
5	180622808	T	C	T180622808C	FLT4	NM_182925.5(FLT4):c.1580A>G:p.Asn527Ser	coding	Benign
5	180624003	T	C	T180624003C	FLT4	NM_182925.5(FLT4):c.1480A>G:p.Thr494Ala	coding	Benign
5	180624071	C	T	C180624071T	FLT4	NM_182925.5(FLT4):c.1422-10G>A	noncoding	Benign/Likely_benign
5	180625946	G	A	G180625946A	FLT4	NM_182925.5(FLT4):c.1344C>T:p.Tyr448=	coding	Benign
5	180626090	G	A	G180626090A	FLT4	NM_182925.5(FLT4):c.1258+21C>T	noncoding	Benign
5	180626097	C	T	C180626097T	FLT4	NM_182925.5(FLT4):c.1258+14G>A	noncoding	Benign
5	180626275	G	A	G180626275A	FLT4	NM_182925.5(FLT4):c.1104-10C>T	noncoding	Benign
5	180626307	A	G	A180626307G	FLT4	NM_182925.5(FLT4):c.1104-42T>C	noncoding	Benign
5	180628849	T	G	T180628849G	FLT4	NM_182925.5(FLT4):c.1103+33A>C	noncoding	Benign
5	180628862	T	C	T180628862C	FLT4	NM_182925.5(FLT4):c.1103+20A>G	noncoding	Benign
5	180628862	T	G	T180628862G	FLT4	NM_182925.5(FLT4):c.1103+20A>C	noncoding	Benign
5	180628864	G	A	G180628864A	FLT4	NM_182925.5(FLT4):c.1103+18C>T	noncoding	Benign
5	180628936	T	A	T180628936A	FLT4	NM_182925.5(FLT4):c.1049A>T:p.Glu350Val	coding	Benign
5	180629044	G	A	G180629044A	FLT4	NM_182925.5(FLT4):c.986-45C>T	noncoding	Benign
5	180629863	C	T	C180629863T	FLT4	NM_182925.5(FLT4):c.677-28G>A	noncoding	Benign
5	180629986	T	C	T180629986C	FLT4	NM_182925.5(FLT4):c.633A>G:p.Gly211=	coding	Benign
5	180630001	G	A	G180630001A	FLT4	NM_182925.5(FLT4):c.618C>T:p.Cys206=	coding	Benign
5	180630231	C	A	C180630231A	FLT4	NM_182925.5(FLT4):c.507G>T:p.Leu169=	coding	Benign
5	180630249	G	A	G180630249A	FLT4	NM_182925.5(FLT4):c.489C>T:p.Pro163=	coding	Benign
5	180630293	T	C	T180630293C	FLT4	NM_182925.5(FLT4):c.445A>G:p.Asn149Asp	coding	Benign
5	180630356	C	G	C180630356G	FLT4	NM_182925.5(FLT4):c.401-19G>C	noncoding	Benign
5	180630538	C	T	C180630538T	FLT4	NM_182925.5(FLT4):c.400+17G>A	noncoding	Benign
5	180630721	C	T	C180630721T	FLT4	NM_182925.5(FLT4):c.234G>A:p.Thr78=	coding	Benign/Likely_benign
5	180631720	G	A	G180631720A	FLT4	NM_182925.5(FLT4):c.117C>T:p.His39=	coding	Benign
5	180631761	A	C	A180631761C	FLT4	NM_182925.5(FLT4):c.76T>G:p.Ser26Ala	coding	Benign
5	180791709	G	A	G180791709A	MGAT1	NM_002406.4(MGAT1):c.1263C>T:p.Thr421=	coding	Benign
5	180792528	C	T	C180792528T	MGAT1	NM_002406.4(MGAT1):c.444G>A:p.Thr148=	coding	Benign
5	180792842	C	T	C180792842T	MGAT1	NM_002406.4(MGAT1):c.130G>A:p.Asp44Asn	coding	Benign
5	180792855	T	C	T180792855C	MGAT1	NM_002406.4(MGAT1):c.117A>G:p.Ser39=	coding	Benign
5	180792879	G	A	G180792879A	MGAT1	NM_002406.4(MGAT1):c.93C>T:p.Arg31=	coding	Benign
5	180792882	C	T	C180792882T	MGAT1	NM_002406.4(MGAT1):c.90G>A:p.Thr30=	coding	Benign
5	180849788	T	C	T180849788C	ZFP62	NM_001172638.1(ZFP62):c.1707A>G:p.Ala569=	coding	Benign
5	180989061	C	G	C180989061G	BTNL3	NM_197975.3(BTNL3):c.33C>G:p.Phe11Leu	coding	Benign
5	180993151	C	T	C180993151T	BTNL3	NM_197975.3(BTNL3):c.388C>T:p.Arg130Trp	coding	Benign
5	180997241	C	T	C180997241T	BTNL3	NM_197975.3(BTNL3):c.426C>T:p.Ile142=	coding	Benign
5	180997423	G	C	G180997423C	BTNL3	NM_197975.3(BTNL3):c.608G>C:p.Ser203Thr	coding	Benign
5	181048195	T	C	T181048195C	BTNL9	NM_152547.5(BTNL9):c.378T>C:p.Ser126=	coding	Benign
5	181053326	C	T	C181053326T	BTNL9	NM_152547.5(BTNL9):c.853+10C>T	noncoding	Benign
5	181058374	T	C	T181058374C	BTNL9	NM_152547.5(BTNL9):c.978T>C:p.Tyr326=	coding	Benign
5	181059730	C	T	C181059730T	BTNL9	NM_152547.5(BTNL9):c.1476C>T:p.Asp492=	coding	Benign
5	181059811	C	T	C181059811T	BTNL9	NM_152547.5(BTNL9):c.1557C>T:p.Asp519=	coding	Benign
5	181224184	A	G	A181224184G	TRIM41	NM_033549.5(TRIM41):c.185A>G:p.Glu62Gly	coding	Benign
5	181224515	C	T	C181224515T	TRIM41	NM_033549.5(TRIM41):c.516C>T:p.Pro172=	coding	Benign
5	181241646	G	A	G181241646A	RACK1	NM_006098.5(RACK1):c.282-7C>T	noncoding	Benign
5	181242275	C	T	C181242275T	RACK1	NM_006098.5(RACK1):c.180G>A:p.Arg60=	coding	Benign
6	348096	C	T	C348096T	DUSP22	NM_001286555.1(DUSP22):c.264-7C>T	noncoding	Benign
6	395889	G	A	G395889A	IRF4	NM_002460.4(IRF4):c.446G>A:p.Ser149Asn	coding	Benign
6	401641	C	T	C401641T	IRF4	NM_002460.4(IRF4):c.963C>T:p.Pro321=	coding	Benign
6	499672	C	A	C499672A	EXOC2	NM_018303.6(EXOC2):c.2409G>T:p.Leu803=	coding	Benign
6	564063	C	T	C564063T	EXOC2	NM_018303.6(EXOC2):c.1759G>A:p.Val587Ile	coding	Benign
6	564658	G	A	G564658A	EXOC2	NM_018303.6(EXOC2):c.1554C>T:p.Arg518=	coding	Benign
6	598095	T	C	T598095C	EXOC2	NM_018303.6(EXOC2):c.999A>G:p.Glu333=	coding	Benign
6	656416	T	C	T656416C	HUS1B	NM_018303.6(EXOC2):c.-43-18555A>G	coding	Benign
6	656539	C	A	C656539A	HUS1B	NM_018303.6(EXOC2):c.-43-18678G>T	coding	Benign
6	656681	G	A	G656681A	HUS1B	NM_018303.6(EXOC2):c.-43-18820C>T	coding	Benign
6	1313091	C	T	C1313091T	FOXQ1	NM_033260.4(FOXQ1):c.387C>T:p.Ala129=	coding	Benign
6	1313717	A	G	A1313717G	FOXQ1	NM_033260.4(FOXQ1):c.1013A>G:p.Glu338Gly	coding	Benign
6	1610017	C	G	C1610017G	FOXC1	NM_001453.3(FOXC1):c.-429C>G	noncoding	Pathogenic
6	1610512	C	T	C1610512T	FOXC1	NM_001453.3(FOXC1):c.67C>T:p.Gln23Ter	coding	Pathogenic
6	1610586	C	G	C1610586G	FOXC1	NM_001453.3(FOXC1):c.141C>G:p.Tyr47Ter	coding	Pathogenic
6	1610637	C	G	C1610637G	FOXC1	NM_001453.3(FOXC1):c.192C>G:p.Tyr64Ter	coding	Pathogenic
6	1610652	G	T	G1610652T	FOXC1	NM_001453.3(FOXC1):c.207G>T:p.Pro69=	coding	Benign
6	1610661	G	A	G1610661A	FOXC1	NM_001453.3(FOXC1):c.216G>A:p.Gln72=	coding	Benign/Likely_benign
6	1610690	G	C	G1610690C	FOXC1	NM_001453.3(FOXC1):c.245G>C:p.Ser82Thr	coding	Pathogenic
6	1610691	C	G	C1610691G	FOXC1	NM_001453.3(FOXC1):c.246C>G:p.Ser82Arg	coding	Pathogenic
6	1610701	C	T	C1610701T	FOXC1	NM_001453.3(FOXC1):c.256C>T:p.Leu86Phe	coding	Pathogenic
6	1610706	C	G	C1610706G	FOXC1	NM_001453.3(FOXC1):c.261C>G:p.Ile87Met	coding	Pathogenic
6	1610761	C	T	C1610761T	FOXC1	NM_001453.3(FOXC1):c.316C>T:p.Gln106Ter	coding	Pathogenic
6	1610778	C	T	C1610778T	FOXC1	NM_001453.3(FOXC1):c.333C>T:p.Arg111=	coding	Benign
6	1610780	T	C	T1610780C	FOXC1	NM_001453.3(FOXC1):c.335T>C:p.Phe112Ser	coding	Pathogenic
6	1610803	C	T	C1610803T	FOXC1	NM_001453.3(FOXC1):c.358C>T:p.Gln120Ter	coding	Pathogenic
6	1610812	C	T	C1610812T	FOXC1	NM_001453.3(FOXC1):c.367C>T:p.Gln123Ter	coding	Pathogenic
6	1610822	T	G	T1610822G	FOXC1	NM_001453.3(FOXC1):c.377T>G:p.Ile126Ser	coding	Pathogenic
6	1610823	C	G	C1610823G	FOXC1	NM_001453.3(FOXC1):c.378C>G:p.Ile126Met	coding	Pathogenic
6	1610825	G	A	G1610825A	FOXC1	NM_001453.3(FOXC1):c.380G>A:p.Arg127His	coding	Pathogenic
6	1610837	C	G	C1610837G	FOXC1	NM_001453.3(FOXC1):c.392C>G:p.Ser131Trp	coding	Pathogenic
6	1610837	C	T	C1610837T	FOXC1	NM_001453.3(FOXC1):c.392C>T:p.Ser131Leu	coding	Pathogenic
6	1610850	C	A	C1610850A	FOXC1	NM_001453.3(FOXC1):c.405C>A:p.Cys135Ter	coding	Pathogenic
6	1610850	C	T	C1610850T	FOXC1	NM_001453.3(FOXC1):c.405C>T:p.Cys135=	coding	Benign
6	1610901	G	A	G1610901A	FOXC1	NM_001453.3(FOXC1):c.456G>A:p.Trp152Ter	coding	Pathogenic
6	1610932	G	T	G1610932T	FOXC1	NM_001453.3(FOXC1):c.487G>T:p.Glu163Ter	coding	Pathogenic
6	1610947	C	T	C1610947T	FOXC1	NM_001453.3(FOXC1):c.502C>T:p.Leu168=	coding	Benign
6	1611018	C	T	C1611018T	FOXC1	NM_001453.3(FOXC1):c.573C>T:p.Leu191=	coding	Benign
6	1611334	C	T	C1611334T	FOXC1	NM_001453.3(FOXC1):c.889C>T:p.Pro297Ser	coding	Benign
6	1611366	C	T	C1611366T	FOXC1	NM_001453.3(FOXC1):c.921C>T:p.Gly307=	coding	Benign
6	1611495	C	T	C1611495T	FOXC1	NM_001453.3(FOXC1):c.1050C>T:p.Leu350=	coding	Benign/Likely_benign
6	1611710	C	A	C1611710A	FOXC1	NM_001453.3(FOXC1):c.1265C>A:p.Ser422Ter	coding	Pathogenic
6	1611844	C	T	C1611844T	FOXC1	NM_001453.3(FOXC1):c.1399C>T:p.Gln467Ter	coding	Pathogenic
6	1611898	T	C	T1611898C	FOXC1	NM_001453.3(FOXC1):c.1453T>C:p.Leu485=	coding	Benign
6	1611936	C	G	C1611936G	FOXC1	NM_001453.3(FOXC1):c.1491C>G:p.Tyr497Ter	coding	Pathogenic
6	1612008	T	G	T1612008G	FOXC1	NM_001453.3(FOXC1):c.1563T>G:p.Ser521=	coding	Benign
6	1612095	T	C	T1612095C	FOXC1	NM_001453.3(FOXC1):c.1650T>C:p.Cys550=	coding	Benign
6	1612841	A	T	A1612841T	FOXC1	NM_001453.3(FOXC1):c.*734A>T	noncoding	Pathogenic
6	2768731	A	G	A2768731G	WRNIP1	NM_020135.3(WRNIP1):c.863A>G:p.His288Arg	coding	Benign
6	2833880	G	A	G2833880A	SERPINB1	NM_030666.4(SERPINB1):c.868C>T:p.Arg290Cys	coding	Benign
6	2838610	G	A	G2838610A	SERPINB1	NM_030666.4(SERPINB1):c.245C>T:p.Ala82Val	coding	Benign
6	2840548	C	T	C2840548T	SERPINB1	NM_030666.4(SERPINB1):c.39G>A:p.Leu13=	coding	Benign
6	2948334	G	A	G2948334A	SERPINB6	NM_004568.5(SERPINB6):c.1095C>T:p.Asn365=	coding	Benign/Likely_benign
6	2948393	C	T	C2948393T	SERPINB6	NM_004568.5(SERPINB6):c.1036G>A:p.Val346Ile	coding	Benign/Likely_benign
6	2948696	C	A	C2948696A	SERPINB6	NM_004568.5(SERPINB6):c.733G>T:p.Glu245Ter	coding	Pathogenic
6	2948918	C	T	C2948918T	SERPINB6	NM_004568.5(SERPINB6):c.725G>A:p.Arg242Lys	coding	Benign
6	2953160	C	T	C2953160T	SERPINB6	NM_004568.5(SERPINB6):c.457G>A:p.Gly153Ser	coding	Benign/Likely_benign
6	2953262	C	G	C2953262G	SERPINB6	NM_004568.5(SERPINB6):c.431-76G>C	noncoding	Benign
6	2955568	T	C	T2955568C	SERPINB6	NM_004568.5(SERPINB6):c.268A>G:p.Met90Val	coding	Benign
6	2955596	G	A	G2955596A	SERPINB6	NM_004568.5(SERPINB6):c.240C>T:p.Asn80=	coding	Benign
6	2959279	C	T	C2959279T	SERPINB6	NM_004568.5(SERPINB6):c.54G>A:p.Thr18=	coding	Benign
6	3012539	G	A	G3012539A	NQO2	NM_000904.6(NQO2):c.173-5G>A	noncoding	Benign
6	3104279	G	A	G3104279A	RIPK1	NM_001354930.2(RIPK1):c.970G>A:p.Asp324Asn	coding	Pathogenic
6	3104279	G	C	G3104279C	RIPK1	NM_001354930.2(RIPK1):c.970G>C:p.Asp324His	coding	Pathogenic
6	3104280	A	T	A3104280T	RIPK1	NM_001354930.2(RIPK1):c.971A>T:p.Asp324Val	coding	Pathogenic
6	3105753	C	A	C3105753A	RIPK1	NM_001354930.2(RIPK1):c.1278C>A:p.Tyr426Ter	coding	Pathogenic
6	3113125	G	A	G3113125A	RIPK1	NM_001354930.2(RIPK1):c.1802G>A:p.Cys601Tyr	coding	Pathogenic
6	3113167	T	C	T3113167C	RIPK1	NM_001354930.2(RIPK1):c.1844T>C:p.Ile615Thr	coding	Pathogenic
6	3113257	C	T	C3113257T	RIPK1	NM_001354930.2(RIPK1):c.1934C>T:p.Thr645Met	coding	Pathogenic
6	3113258	G	A	G3113258A	RIPK1	NM_001354930.2(RIPK1):c.1935G>A:p.Thr645=	coding	Benign
6	3129046	C	T	C3129046T	BPHL	NM_004332.4(BPHL):c.380C>T:p.Ala127Val	coding	Benign
6	3153878	G	A	G3153878A	TUBB2A	NM_001069.3(TUBB2A):c.1323C>T:p.Gly441=	coding	Benign
6	3154168	T	A	T3154168A	TUBB2A	NM_001069.3(TUBB2A):c.1033A>T:p.Ile345Phe	coding	Pathogenic/Likely_pathogenic
6	3154460	G	C	G3154460C	TUBB2A	NM_001069.3(TUBB2A):c.741C>G:p.Asn247Lys	coding	Pathogenic
6	3154473	G	A	G3154473A	TUBB2A	NM_001069.3(TUBB2A):c.728C>T:p.Pro243Leu	coding	Pathogenic/Likely_pathogenic
6	3154592	A	G	A3154592G	TUBB2A	NM_001069.3(TUBB2A):c.609T>C:p.Asp203=	coding	Benign/Likely_benign
6	3154621	C	T	C3154621T	TUBB2A	NM_001069.3(TUBB2A):c.580G>A:p.Glu194Lys	coding	Pathogenic
6	3154637	A	C	A3154637C	TUBB2A	NM_001069.3(TUBB2A):c.564T>G:p.Ser188=	coding	Benign/Likely_benign
6	3154648	C	T	C3154648T	TUBB2A	NM_001069.3(TUBB2A):c.553G>A:p.Ala185Thr	coding	Benign
6	3154668	G	A	G3154668A	TUBB2A	NM_001069.3(TUBB2A):c.533C>T:p.Thr178Met	coding	Pathogenic
6	3154697	G	A	G3154697A	TUBB2A	NM_001069.3(TUBB2A):c.504C>T:p.Ser168=	coding	Benign
6	3154838	C	T	C3154838T	TUBB2A	NM_001069.3(TUBB2A):c.363G>A:p.Arg121=	coding	Benign
6	3154909	C	T	C3154909T	TUBB2A	NM_001069.3(TUBB2A):c.292G>A:p.Gly98Arg	coding	Pathogenic/Likely_pathogenic
6	3155713	G	C	G3155713C	TUBB2A	NM_001069.3(TUBB2A):c.189C>G:p.Ala63=	coding	Benign
6	3155754	G	A	G3155754A	TUBB2A	NM_001069.3(TUBB2A):c.167-19C>T	noncoding	Benign
6	3157120	C	G	C3157120G	TUBB2A	NM_001069.3(TUBB2A):c.57+287G>C	noncoding	Benign
6	3224828	C	T	C3224828T	TUBB2B	NM_178012.5(TUBB2B):c.1261G>A:p.Glu421Lys	coding	Pathogenic
6	3224840	C	T	C3224840T	TUBB2B	NM_178012.5(TUBB2B):c.1249G>A:p.Asp417Asn	coding	Pathogenic
6	3225296	A	G	A3225296G	TUBB2B	NM_178012.5(TUBB2B):c.793T>C:p.Phe265Leu	coding	Pathogenic
6	3225371	G	A	G3225371A	TUBB2B	NM_178012.5(TUBB2B):c.718C>T:p.Leu240=	coding	Benign
6	3225373	C	A	C3225373A	TUBB2B	NM_178012.5(TUBB2B):c.716G>T:p.Cys239Phe	coding	Pathogenic
6	3225386	C	T	C3225386T	TUBB2B	NM_178012.5(TUBB2B):c.703G>A:p.Gly235Arg	coding	Benign
6	3225406	A	G	A3225406G	TUBB2B	NM_178012.5(TUBB2B):c.683T>C:p.Leu228Pro	coding	Pathogenic
6	3225480	G	A	G3225480A	TUBB2B	NM_178012.5(TUBB2B):c.609C>T:p.Asp203=	coding	Benign/Likely_benign
6	3225525	C	A	C3225525A	TUBB2B	NM_178012.5(TUBB2B):c.564G>T:p.Ser188=	coding	Benign/Likely_benign
6	3225556	G	A	G3225556A	TUBB2B	NM_178012.5(TUBB2B):c.533C>T:p.Thr178Met	coding	Pathogenic/Likely_pathogenic
6	3225575	A	G	A3225575G	TUBB2B	NM_178012.5(TUBB2B):c.514T>C:p.Ser172Pro	coding	Pathogenic
6	3225759	G	A	G3225759A	TUBB2B	NM_178012.5(TUBB2B):c.330C>T:p.Ala110=	coding	Benign/Likely_benign
6	3225797	C	T	C3225797T	TUBB2B	NM_178012.5(TUBB2B):c.292G>A:p.Gly98Arg	coding	Pathogenic/Likely_pathogenic
6	3226739	C	T	C3226739T	TUBB2B	NM_178012.5(TUBB2B):c.58-70G>A	noncoding	Benign
6	3226803	G	A	G3226803A	TUBB2B	NM_178012.5(TUBB2B):c.58-134C>T	noncoding	Benign
6	3273379	C	T	C3273379T	SLC22A23	NM_015482.1(SLC22A23):c.1737G>A:p.Ala579=	coding	Benign
6	3273382	G	A	G3273382A	SLC22A23	NM_015482.1(SLC22A23):c.1734C>T:p.Ser578=	coding	Benign
6	3283860	C	T	C3283860T	SLC22A23	NM_015482.1(SLC22A23):c.1695G>A:p.Thr565=	coding	Benign
6	4031721	A	G	A4031721G	PRPF4B	NM_003913.5(PRPF4B):c.204A>G:p.Lys68=	coding	Benign
6	4052813	A	G	A4052813G	PRPF4B	NM_003913.5(PRPF4B):c.2406A>G:p.Ala802=	coding	Benign
6	4117373	G	A	G4117373A	ECI2	NM_206836.2(ECI2):c.964C>T:p.Pro322Ser	coding	Benign
6	4126146	G	A	G4126146A	ECI2	NM_206836.2(ECI2):c.663C>T:p.Ala221=	coding	Benign
6	4133719	T	C	T4133719C	ECI2	NM_206836.2(ECI2):c.51-8A>G	noncoding	Benign
6	5109711	C	T	C5109711T	LYRM4	NM_020408.5(LYRM4):c.208-220G>A	noncoding	Benign
6	5109747	C	T	C5109747T	LYRM4	NM_020408.5(LYRM4):c.208-256G>A	noncoding	Benign
6	5109764	C	A	C5109764A	LYRM4	NM_020408.5(LYRM4):c.208-273G>T	noncoding	Benign
6	5143955	T	C	T5143955C	LYRM4	NM_020408.5(LYRM4):c.208-34464A>G	noncoding	Benign
6	5143958	C	T	C5143958T	LYRM4	NM_020408.5(LYRM4):c.208-34467G>A	noncoding	Benign
6	5216600	A	G	A5216600G	LYRM4	NM_020408.5(LYRM4):c.207+18T>C	noncoding	Benign
6	5216622	C	A	C5216622A	LYRM4	NM_020408.5(LYRM4):c.203G>T:p.Arg68Leu	coding	Pathogenic
6	5216777	C	T	C5216777T	LYRM4	NM_020408.5(LYRM4):c.87-39G>A	noncoding	Benign
6	5260703	A	C	A5260703C	LYRM4	NM_020408.5(LYRM4):c.31T>G:p.Ser11Ala	coding	Benign
6	5260903	G	A	G5260903A	LYRM4	NM_020408.5(LYRM4):c.-170C>T	noncoding	Benign
6	5261030	C	T	C5261030T	LYRM4	NM_020408.5(LYRM4):c.-297G>A	noncoding	Benign
6	5261059	G	A	G5261059A	LYRM4	NM_020408.5(LYRM4):c.-326C>T	noncoding	Benign
6	5261126	A	G	A5261126G	LYRM4	NM_020408.5(LYRM4):c.-393T>C	noncoding	Benign
6	5261227	A	C	A5261227C	LYRM4	NM_020408.5(LYRM4):c.-494T>G	noncoding	Benign
6	5368672	G	A	G5368672A	FARS2	NM_006567.5(FARS2):c.102G>A:p.Ser34=	coding	Benign
6	5368740	C	G	C5368740G	FARS2	NM_006567.5(FARS2):c.170C>G:p.Ser57Cys	coding	Benign/Likely_benign
6	5368753	C	T	C5368753T	FARS2	NM_006567.5(FARS2):c.183C>T:p.Asp61=	coding	Benign
6	5368821	A	C	A5368821C	FARS2	NM_006567.5(FARS2):c.251A>C:p.His84Pro	coding	Pathogenic
6	5368831	G	A	G5368831A	FARS2	NM_006567.5(FARS2):c.261G>A:p.Trp87Ter	coding	Pathogenic
6	5368858	C	T	C5368858T	FARS2	NM_006567.5(FARS2):c.288C>T:p.His96=	coding	Benign
6	5368909	C	T	C5368909T	FARS2	NM_006567.5(FARS2):c.339C>T:p.Tyr113=	coding	Benign
6	5368994	G	T	G5368994T	FARS2	NM_006567.5(FARS2):c.424G>T:p.Asp142Tyr	coding	Pathogenic
6	5369001	A	G	A5369001G	FARS2	NM_006567.5(FARS2):c.431A>G:p.Tyr144Cys	coding	Pathogenic/Likely_pathogenic
6	5369032	G	T	G5369032T	FARS2	NM_006567.5(FARS2):c.462G>T:p.Ala154=	coding	Benign/Likely_benign
6	5369038	G	A	G5369038A	FARS2	NM_006567.5(FARS2):c.468G>A:p.Thr156=	coding	Benign
6	5369089	G	C	G5369089C	FARS2	NM_006567.5(FARS2):c.519G>C:p.Val173=	coding	Benign
6	5369176	G	A	G5369176A	FARS2	NM_006567.5(FARS2):c.606G>A:p.Lys202=	coding	Benign/Likely_benign
6	5369505	C	T	C5369505T	FARS2	NM_006567.5(FARS2):c.612+323C>T	noncoding	Benign
6	5404227	T	A	T5404227A	FARS2	NM_006567.5(FARS2):c.613-315T>A	noncoding	Benign
6	5404354	C	T	C5404354T	FARS2	NM_006567.5(FARS2):c.613-188C>T	noncoding	Benign
6	5404666	C	T	C5404666T	FARS2	NM_006567.5(FARS2):c.737C>T:p.Thr246Met	coding	Benign/Likely_benign
6	5404697	A	C	A5404697C	FARS2	NM_006567.5(FARS2):c.768A>C:p.Gly256=	coding	Benign/Likely_benign
6	5431069	C	G	C5431069G	FARS2	NM_006567.5(FARS2):c.801C>G:p.Tyr267Ter	coding	Pathogenic
6	5431087	T	A	T5431087A	FARS2	NM_006567.5(FARS2):c.819T>A:p.Pro273=	coding	Benign/Likely_benign
6	5431107	A	G	A5431107G	FARS2	NM_006567.5(FARS2):c.839A>G:p.Asn280Ser	coding	Benign
6	5431141	C	T	C5431141T	FARS2	NM_006567.5(FARS2):c.873C>T:p.Cys291=	coding	Benign/Likely_benign
6	5431154	C	T	C5431154T	FARS2	NM_006567.5(FARS2):c.886C>T:p.Gln296Ter	coding	Pathogenic
6	5431338	G	A	G5431338A	FARS2	NM_006567.5(FARS2):c.904+166G>A	noncoding	Benign
6	5545200	G	A	G5545200A	FARS2	NM_006567.5(FARS2):c.925G>A:p.Gly309Ser	coding	Pathogenic/Likely_pathogenic
6	5545289	C	T	C5545289T	FARS2	NM_006567.5(FARS2):c.1014C>T:p.Arg338=	coding	Benign
6	5612922	G	A	G5612922A	FARS2	NM_006567.5(FARS2):c.1066-247G>A	noncoding	Benign
6	5613216	G	T	G5613216T	FARS2	NM_006567.5(FARS2):c.1113G>T:p.Leu371Phe	coding	Pathogenic
6	6006731	C	T	C6006731T	NRN1	NM_016588.3(NRN1):c.19G>A:p.Gly7Ser	coding	Benign
6	6144624	C	A	C6144624A	F13A1	NM_000129.3(F13A1):c.*995G>T	noncoding	Benign
6	6144876	C	T	C6144876T	F13A1	NM_000129.3(F13A1):c.*743G>A	noncoding	Benign
6	6145398	C	T	C6145398T	F13A1	NM_000129.3(F13A1):c.*221G>A	noncoding	Benign
6	6145459	C	T	C6145459T	F13A1	NM_000129.3(F13A1):c.*160G>A	noncoding	Benign
6	6145493	A	G	A6145493G	F13A1	NM_000129.3(F13A1):c.*126T>C	noncoding	Benign
6	6145530	T	C	T6145530C	F13A1	NM_000129.3(F13A1):c.*89A>G	noncoding	Benign
6	6145708	G	A	G6145708A	F13A1	NM_000129.3(F13A1):c.2110C>T:p.Arg704Trp	coding	Pathogenic
6	6151813	C	T	C6151813T	F13A1	NM_000129.3(F13A1):c.2045G>A:p.Arg682His	coding	Pathogenic
6	6151874	G	A	G6151874A	F13A1	NM_000129.3(F13A1):c.1984C>T:p.Arg662Ter	coding	Pathogenic
6	6151904	C	G	C6151904G	F13A1	NM_000129.3(F13A1):c.1954G>C:p.Glu652Gln	coding	Benign
6	6151907	C	T	C6151907T	F13A1	NM_000129.3(F13A1):c.1951G>A:p.Val651Ile	coding	Benign
6	6174623	T	C	T6174623C	F13A1	NM_000129.3(F13A1):c.1704A>G:p.Glu568=	coding	Benign/Likely_benign
6	6174638	C	T	C6174638T	F13A1	NM_000129.4(F13A1):c.1689G>A:p.Gly563=	coding	Benign/Likely_benign
6	6174640	C	T	C6174640T	F13A1	NM_000129.3(F13A1):c.1687G>A:p.Gly563Arg	coding	Pathogenic
6	6174707	G	A	G6174707A	F13A1	NM_000129.4(F13A1):c.1620C>T:p.Phe540=	coding	Benign
6	6174823	C	T	C6174823T	F13A1	NM_000129.3(F13A1):c.1504G>A:p.Gly502Arg	coding	Pathogenic
6	6182121	G	T	G6182121T	F13A1	NM_000129.3(F13A1):c.1326C>A:p.Tyr442Ter	coding	Pathogenic
6	6195859	C	A	C6195859A	F13A1	NM_000129.3(F13A1):c.1243G>T:p.Val415Phe	coding	Pathogenic
6	6222016	T	C	T6222016C	F13A1	NM_000129.3(F13A1):c.1112+17A>G	noncoding	Benign
6	6222149	T	G	T6222149G	F13A1	NM_000129.3(F13A1):c.996A>C:p.Pro332=	coding	Benign
6	6222165	C	T	C6222165T	F13A1	NM_000129.3(F13A1):c.980G>A:p.Arg327Gln	coding	Pathogenic
6	6224710	C	A	C6224710A	F13A1	NM_000129.3(F13A1):c.949G>T:p.Val317Phe	coding	Pathogenic
6	6224808	T	C	T6224808C	F13A1	NM_000129.3(F13A1):c.851A>G:p.Tyr284Cys	coding	Pathogenic
6	6248310	A	G	A6248310G	F13A1	NM_000129.4(F13A1):c.798+2T>C	noncoding	Pathogenic
6	6248382	A	G	A6248382G	F13A1	NM_000129.3(F13A1):c.728T>C:p.Met243Thr	coding	Pathogenic
6	6248420	C	T	C6248420T	F13A1	NM_000129.4(F13A1):c.691-1G>A	coding	Pathogenic
6	6266566	C	A	C6266566A	F13A1	NM_000129.3(F13A1):c.563G>T:p.Trp188Leu	coding	Pathogenic
6	6266615	G	A	G6266615A	F13A1	NM_000129.3(F13A1):c.514C>T:p.Arg172Ter	coding	Pathogenic
6	6305487	G	T	G6305487T	F13A1	NM_000129.3(F13A1):c.183C>A:p.Asn61Lys	coding	Pathogenic
6	6320575	T	G	T6320575G	F13A1	NM_000129.3(F13A1):c.-19+12A>C	noncoding	Benign
6	6588764	C	T	C6588764T	LY86	NM_004271.4(LY86):c.30C>T:p.Leu10=	coding	Benign
6	6626346	T	C	T6626346C	LY86	NM_004271.4(LY86):c.277T>C:p.Ser93Pro	coding	Benign
6	7181917	G	A	G7181917A	RREB1	NM_001003699.4(RREB1):c.6G>A:p.Thr2=	coding	Benign
6	7181922	G	A	G7181922A	RREB1	NM_001003699.4(RREB1):c.11G>A:p.Ser4Asn	coding	Benign
6	7181998	G	A	G7181998A	RREB1	NM_001003699.4(RREB1):c.87G>A:p.Lys29=	coding	Benign
6	7182043	G	A	G7182043A	RREB1	NM_001003699.4(RREB1):c.132G>A:p.Ser44=	coding	Benign
6	7189165	A	G	A7189165G	RREB1	NM_001003699.4(RREB1):c.268A>G:p.Thr90Ala	coding	Benign
6	7226605	C	T	C7226605T	RREB1	NM_001003699.4(RREB1):c.846C>T:p.His282=	coding	Benign
6	7229123	G	A	G7229123A	RREB1	NM_001003699.4(RREB1):c.1024G>A:p.Asp342Asn	coding	Benign
6	7229311	C	T	C7229311T	RREB1	NM_001003699.4(RREB1):c.1212C>T:p.Pro404=	coding	Benign
6	7229741	A	C	A7229741C	RREB1	NM_001003699.4(RREB1):c.1642A>C:p.Lys548Gln	coding	Benign
6	7229758	A	G	A7229758G	RREB1	NM_001003699.4(RREB1):c.1659A>G:p.Ser553=	coding	Benign
6	7229812	C	G	C7229812G	RREB1	NM_001003699.4(RREB1):c.1713C>G:p.Pro571=	coding	Benign
6	7229929	G	T	G7229929T	RREB1	NM_001003699.4(RREB1):c.1830G>T:p.Met610Ile	coding	Benign
6	7230328	G	A	G7230328A	RREB1	NM_001003699.4(RREB1):c.2229G>A:p.Glu743=	coding	Benign
6	7230442	C	T	C7230442T	RREB1	NM_001003699.4(RREB1):c.2343C>T:p.Gly781=	coding	Benign
6	7230496	C	T	C7230496T	RREB1	NM_001003699.4(RREB1):c.2397C>T:p.Phe799=	coding	Benign
6	7230613	C	T	C7230613T	RREB1	NM_001003699.4(RREB1):c.2514C>T:p.Ala838=	coding	Benign
6	7230673	C	G	C7230673G	RREB1	NM_001003699.4(RREB1):c.2574C>G:p.Pro858=	coding	Benign
6	7230961	C	T	C7230961T	RREB1	NM_001003699.4(RREB1):c.2862C>T:p.Ser954=	coding	Benign
6	7230976	T	G	T7230976G	RREB1	NM_001003699.4(RREB1):c.2877T>G:p.Pro959=	coding	Benign
6	7231047	T	C	T7231047C	RREB1	NM_001003699.4(RREB1):c.2948T>C:p.Leu983Ser	coding	Benign
6	7231054	C	T	C7231054T	RREB1	NM_001003699.4(RREB1):c.2955C>T:p.Pro985=	coding	Benign
6	7231144	G	A	G7231144A	RREB1	NM_001003699.4(RREB1):c.3045G>A:p.Ala1015=	coding	Benign
6	7231288	C	T	C7231288T	RREB1	NM_001003699.4(RREB1):c.3189C>T:p.Pro1063=	coding	Benign
6	7231396	G	A	G7231396A	RREB1	NM_001003699.4(RREB1):c.3297G>A:p.Thr1099=	coding	Benign
6	7231563	G	A	G7231563A	RREB1	NM_001003699.4(RREB1):c.3464G>A:p.Arg1155Gln	coding	Benign
6	7231777	C	T	C7231777T	RREB1	NM_001003699.4(RREB1):c.3678C>T:p.Pro1226=	coding	Benign
6	7246415	G	A	G7246415A	RREB1	NM_001003699.4(RREB1):c.3974-9G>A	noncoding	Benign
6	7246680	G	A	G7246680A	RREB1	NM_001003699.4(RREB1):c.4230G>A:p.Ala1410=	coding	Benign
6	7246699	G	C	G7246699C	RREB1	NM_001003699.4(RREB1):c.4249G>C:p.Asp1417His	coding	Benign
6	7246757	C	T	C7246757T	RREB1	NM_001003699.4(RREB1):c.4307C>T:p.Ala1436Val	coding	Benign
6	7246761	C	T	C7246761T	RREB1	NM_001003699.4(RREB1):c.4311C>T:p.Gly1437=	coding	Benign
6	7248692	C	T	C7248692T	RREB1	NM_001003699.4(RREB1):c.4953C>T:p.Ala1651=	coding	Benign
6	7248725	T	C	T7248725C	RREB1	NM_001003699.4(RREB1):c.4986T>C:p.Asn1662=	coding	Benign
6	7541350	G	A	G7541350A	DSP	NC_000006.12:g.7541350G>A	noncoding	Benign
6	7541378	G	C	G7541378C	DSP	NC_000006.12:g.7541378G>C	noncoding	Benign
6	7542020	G	A	G7542020A	DSP	NM_004415.4(DSP):c.105G>A:p.Gly35=	coding	Benign/Likely_benign
6	7542041	T	C	T7542041C	DSP	NM_004415.4(DSP):c.126T>C:p.Tyr42=	coding	Benign
6	7542066	C	T	C7542066T	DSP	NM_004415.4(DSP):c.151C>T:p.Gln51Ter	coding	Pathogenic
6	7542248	C	T	C7542248T	DSP	NM_004415.4(DSP):c.170+163C>T	noncoding	Benign
6	7542385	C	A	C7542385A	DSP	NM_004415.4(DSP):c.170+300C>A	noncoding	Benign
6	7555784	C	T	C7555784T	DSP	NM_004415.4(DSP):c.237C>T:p.Ser79=	coding	Benign/Likely_benign
6	7555797	C	T	C7555797T	DSP	NM_004415.4(DSP):c.250C>T:p.Arg84Ter	coding	Pathogenic
6	7555815	C	T	C7555815T	DSP	NM_004415.4(DSP):c.268C>T:p.Gln90Ter	coding	Pathogenic
6	7555821	G	A	G7555821A	DSP	NM_004415.4(DSP):c.273+1G>A	coding	Pathogenic
6	7555830	C	T	C7555830T	DSP	NM_004415.4(DSP):c.273+10C>T	noncoding	Benign/Likely_benign
6	7556000	G	T	G7556000T	DSP	NM_004415.4(DSP):c.273+180G>T	noncoding	Benign
6	7556011	A	G	A7556011G	DSP	NM_004415.4(DSP):c.273+191A>G	noncoding	Benign
6	7557807	A	G	A7557807G	DSP	NM_004415.4(DSP):c.274-309A>G	noncoding	Benign
6	7558085	T	C	T7558085C	DSP	NM_004415.4(DSP):c.274-31T>C	noncoding	Benign
6	7558155	C	T	C7558155T	DSP	NM_004415.4(DSP):c.313C>T:p.Arg105Ter	coding	Pathogenic
6	7559225	G	T	G7559225T	DSP	NM_004415.4(DSP):c.423-1G>T	noncoding	Pathogenic
6	7559281	C	T	C7559281T	DSP	NM_004415.4(DSP):c.478C>T:p.Arg160Ter	coding	Pathogenic/Likely_pathogenic
6	7559325	T	C	T7559325C	DSP	NM_004415.4(DSP):c.522T>C:p.Cys174=	coding	Benign/Likely_benign
6	7559326	C	T	C7559326T	DSP	NM_004415.4(DSP):c.523C>T:p.Gln175Ter	coding	Pathogenic/Likely_pathogenic
6	7562753	G	A	G7562753A	DSP	NM_004415.4(DSP):c.699G>A:p.Trp233Ter	coding	Pathogenic/Likely_pathogenic
6	7562754	C	T	C7562754T	DSP	NM_004415.4(DSP):c.700C>T:p.Gln234Ter	coding	Pathogenic
6	7562999	T	G	T7562999G	DSP	NM_004415.4(DSP):c.726+219T>G	noncoding	Benign
6	7563750	G	A	G7563750A	DSP	NM_004415.4(DSP):c.741G>A:p.Ala247=	coding	Benign/Likely_benign
6	7563890	G	A	G7563890A	DSP	NM_004415.4(DSP):c.777+104G>A	noncoding	Benign
6	7563906	C	G	C7563906G	DSP	NM_004415.4(DSP):c.777+120C>G	noncoding	Benign
6	7565442	T	G	T7565442G	DSP	NM_004415.4(DSP):c.861T>G:p.Asn287Lys	coding	Pathogenic
6	7565469	C	G	C7565469G	DSP	NM_004415.4(DSP):c.888C>G:p.Tyr296Ter	coding	Pathogenic
6	7565478	C	G	C7565478G	DSP	NM_004415.4(DSP):c.897C>G:p.Ser299Arg	coding	Pathogenic
6	7565478	C	T	C7565478T	DSP	NM_004415.4(DSP):c.897C>T:p.Ser299=	coding	Benign
6	7565494	A	T	A7565494T	DSP	NM_004415.4(DSP):c.913A>T:p.Ile305Phe	coding	Benign/Likely_benign
6	7565506	C	T	C7565506T	DSP	NM_004415.4(DSP):c.925C>T:p.Gln309Ter	coding	Pathogenic
6	7565521	G	A	G7565521A	DSP	NM_004415.4(DSP):c.939+1G>A	coding	Pathogenic/Likely_pathogenic
6	7565652	G	A	G7565652A	DSP	NM_004415.4(DSP):c.939+132G>A	noncoding	Benign
6	7565819	C	T	C7565819T	DSP	NM_004415.4(DSP):c.939+299C>T	noncoding	Benign
6	7566153	T	C	T7566153C	DSP	NM_004415.4(DSP):c.940-224T>C	noncoding	Benign
6	7566182	T	C	T7566182C	DSP	NM_004415.4(DSP):c.940-195T>C	noncoding	Benign
6	7566428	C	T	C7566428T	DSP	NM_004415.4(DSP):c.991C>T:p.Gln331Ter	coding	Pathogenic
6	7567396	C	T	C7567396T	DSP	NM_004415.4(DSP):c.1087C>T:p.Gln363Ter	coding	Pathogenic
6	7567737	C	T	C7567737T	DSP	NM_004415.4(DSP):c.1141-44C>T	noncoding	Benign
6	7567779	A	G	A7567779G	DSP	NM_004415.4(DSP):c.1141-2A>G	noncoding	Pathogenic
6	7567874	C	T	C7567874T	DSP	NM_004415.4(DSP):c.1234C>T:p.Gln412Ter	coding	Pathogenic
6	7567912	G	T	G7567912T	DSP	NM_004415.4(DSP):c.1266+6G>T	noncoding	Benign/Likely_benign
6	7568121	G	T	G7568121T	DSP	NM_004415.4(DSP):c.1266+215G>T	noncoding	Benign
6	7568443	C	T	C7568443T	DSP	NM_004415.4(DSP):c.1273C>T:p.Arg425Ter	coding	Pathogenic/Likely_pathogenic
6	7568458	G	T	G7568458T	DSP	NM_004415.4(DSP):c.1288G>T:p.Glu430Ter	coding	Pathogenic
6	7569093	C	T	C7569093T	DSP	NM_004415.4(DSP):c.1420-93C>T	noncoding	Benign
6	7569247	A	T	A7569247T	DSP	NM_004415.4(DSP):c.1481A>T:p.Tyr494Phe	coding	Benign
6	7569254	G	A	G7569254A	DSP	NM_004415.4(DSP):c.1488G>A:p.Thr496=	coding	Benign/Likely_benign
6	7569323	C	T	C7569323T	DSP	NM_004415.4(DSP):c.1557C>T:p.Ala519=	coding	Benign/Likely_benign
6	7570444	C	T	C7570444T	DSP	NM_004415.4(DSP):c.1582C>T:p.Gln528Ter	coding	Pathogenic
6	7570553	C	T	C7570553T	DSP	NM_004415.4(DSP):c.1691C>T:p.Thr564Ile	coding	Pathogenic
6	7570557	C	T	C7570557T	DSP	NM_004415.4(DSP):c.1695C>T:p.Ile565=	coding	Benign/Likely_benign
6	7570730	A	G	A7570730G	DSP	NM_004415.4(DSP):c.1701+167A>G	noncoding	Benign
6	7570749	C	G	C7570749G	DSP	NM_004415.4(DSP):c.1701+186C>G	noncoding	Benign
6	7571094	G	T	G7571094T	DSP	NM_004415.4(DSP):c.1702-289G>T	noncoding	Benign
6	7571365	C	T	C7571365T	DSP	NM_004415.4(DSP):c.1702-18C>T	noncoding	Benign
6	7571443	C	T	C7571443T	DSP	NM_004415.4(DSP):c.1762C>T:p.Gln588Ter	coding	Pathogenic
6	7571464	C	T	C7571464T	DSP	NM_004415.4(DSP):c.1783C>T:p.Gln595Ter	coding	Pathogenic
6	7571487	T	C	T7571487C	DSP	NM_004415.4(DSP):c.1806T>C:p.Asp602=	coding	Benign/Likely_benign
6	7571512	C	T	C7571512T	DSP	NM_004415.4(DSP):c.1831C>T:p.Gln611Ter	coding	Pathogenic
6	7571528	A	C	A7571528C	DSP	NM_004415.4(DSP):c.1847A>C:p.Gln616Pro	coding	Pathogenic
6	7571534	A	C	A7571534C	DSP	NM_004415.4(DSP):c.1853A>C:p.His618Pro	coding	Pathogenic
6	7571538	C	A	C7571538A	DSP	NM_004415.4(DSP):c.1857C>A:p.Tyr619Ter	coding	Pathogenic
6	7571545	C	T	C7571545T	DSP	NM_004415.4(DSP):c.1864C>T:p.Leu622=	coding	Benign/Likely_benign
6	7571546	T	C	T7571546C	DSP	NM_004415.4(DSP):c.1865T>C:p.Leu622Pro	coding	Pathogenic
6	7571554	C	T	C7571554T	DSP	NM_004415.4(DSP):c.1873C>T:p.Gln625Ter	coding	Pathogenic/Likely_pathogenic
6	7571578	C	T	C7571578T	DSP	NM_004415.4(DSP):c.1897C>T:p.Gln633Ter	coding	Pathogenic
6	7571591	T	C	T7571591C	DSP	NM_004415.4(DSP):c.1903+7T>C	noncoding	Benign
6	7571641	G	A	G7571641A	DSP	NM_004415.4(DSP):c.1903+57G>A	noncoding	Benign
6	7571793	T	A	T7571793A	DSP	NM_004415.4(DSP):c.1904-49T>A	noncoding	Benign
6	7571858	C	T	C7571858T	DSP	NM_004415.4(DSP):c.1920C>T:p.Ile640=	coding	Benign/Likely_benign
6	7571928	C	T	C7571928T	DSP	NM_004415.4(DSP):c.1990C>T:p.Gln664Ter	coding	Pathogenic
6	7571938	G	A	G7571938A	DSP	NM_004415.4(DSP):c.2000G>A:p.Trp667Ter	coding	Pathogenic
6	7572029	A	G	A7572029G	DSP	NM_004415.4(DSP):c.2091A>G:p.Gly697=	coding	Benign
6	7574303	T	C	T7574303C	DSP	NM_004415.4(DSP):c.2297+51T>C	noncoding	Benign
6	7574572	C	T	C7574572T	DSP	NM_004415.4(DSP):c.2298-85C>T	noncoding	Benign
6	7574619	T	C	T7574619C	DSP	NM_004415.4(DSP):c.2298-38T>C	noncoding	Benign
6	7574682	C	T	C7574682T	DSP	NM_004415.4(DSP):c.2323C>T:p.Gln775Ter	coding	Pathogenic
6	7574786	T	A	T7574786A	DSP	NM_004415.4(DSP):c.2427T>A:p.Cys809Ter	coding	Pathogenic
6	7575355	C	T	C7575355T	DSP	NM_004415.4(DSP):c.2497C>T:p.Gln833Ter	coding	Pathogenic
6	7575386	C	A	C7575386A	DSP	NM_004415.4(DSP):c.2528C>A:p.Ser843Ter	coding	Pathogenic
6	7575405	T	A	T7575405A	DSP	NM_004415.4(DSP):c.2547T>A:p.Tyr849Ter	coding	Pathogenic
6	7575460	C	T	C7575460T	DSP	NM_004415.4(DSP):c.2602C>T:p.Gln868Ter	coding	Pathogenic
6	7575475	C	T	C7575475T	DSP	NM_004415.4(DSP):c.2617C>T:p.Gln873Ter	coding	Pathogenic
6	7575506	C	T	C7575506T	DSP	NM_004415.4(DSP):c.2630+18C>T	noncoding	Benign
6	7576135	G	A	G7576135A	DSP	NM_004415.4(DSP):c.2631-159G>A	noncoding	Benign
6	7576294	G	A	G7576294A	DSP	NM_004415.4(DSP):c.2631G>A:p.Arg877=	coding	Benign
6	7576307	G	T	G7576307T	DSP	NM_004415.4(DSP):c.2644G>T:p.Glu882Ter	coding	Pathogenic
6	7576336	T	C	T7576336C	DSP	NM_004415.4(DSP):c.2673T>C:p.Tyr891=	coding	Benign/Likely_benign
6	7576388	C	T	C7576388T	DSP	NM_004415.4(DSP):c.2725C>T:p.Gln909Ter	coding	Pathogenic
6	7576846	G	A	G7576846A	DSP	NM_004415.4(DSP):c.2794-113G>A	noncoding	Benign
6	7576980	G	A	G7576980A	DSP	NM_004415.4(DSP):c.2815G>A:p.Gly939Ser	coding	Benign/Likely_benign
6	7576986	C	T	C7576986T	DSP	NM_004415.4(DSP):c.2821C>T:p.Arg941Ter	coding	Pathogenic/Likely_pathogenic
6	7577027	C	T	C7577027T	DSP	NM_004415.4(DSP):c.2862C>T:p.Cys954=	coding	Benign
6	7577121	C	A	C7577121A	DSP	NM_004415.4(DSP):c.2877+79C>A	noncoding	Benign
6	7577956	G	A	G7577956A	DSP	NM_004415.4(DSP):c.2985+70G>A	noncoding	Benign
6	7578110	G	C	G7578110C	DSP	NM_004415.4(DSP):c.2985+224G>C	noncoding	Benign
6	7578458	T	A	T7578458A	DSP	NM_004415.4(DSP):c.2986-6T>A	noncoding	Benign/Likely_benign
6	7578496	A	G	A7578496G	DSP	NM_004415.4(DSP):c.3018A>G:p.Leu1006=	coding	Benign/Likely_benign
6	7578586	T	G	T7578586G	DSP	NM_004415.4(DSP):c.3084+24T>G	noncoding	Benign
6	7578590	G	A	G7578590A	DSP	NM_004415.4(DSP):c.3084+28G>A	noncoding	Benign
6	7578737	C	T	C7578737T	DSP	NM_004415.4(DSP):c.3084+175C>T	noncoding	Benign
6	7579078	G	T	G7579078T	DSP	NM_004415.4(DSP):c.3085-197G>T	noncoding	Benign
6	7579130	A	T	A7579130T	DSP	NM_004415.4(DSP):c.3085-145A>T	noncoding	Benign
6	7579160	C	T	C7579160T	DSP	NM_004415.4(DSP):c.3085-115C>T	noncoding	Benign
6	7579161	A	G	A7579161G	DSP	NM_004415.4(DSP):c.3085-114A>G	noncoding	Benign
6	7579323	C	T	C7579323T	DSP	NM_004415.4(DSP):c.3133C>T:p.Arg1045Ter	coding	Pathogenic/Likely_pathogenic
6	7579385	C	G	C7579385G	DSP	NM_004415.4(DSP):c.3195C>G:p.Tyr1065Ter	coding	Pathogenic
6	7579431	G	T	G7579431T	DSP	NM_004415.4(DSP):c.3241G>T:p.Glu1081Ter	coding	Pathogenic
6	7579443	C	T	C7579443T	DSP	NM_004415.4(DSP):c.3253C>T:p.Gln1085Ter	coding	Pathogenic
6	7579466	G	C	G7579466C	DSP	NM_004415.4(DSP):c.3276G>C:p.Ser1092=	coding	Benign/Likely_benign
6	7579527	C	T	C7579527T	DSP	NM_004415.4(DSP):c.3337C>T:p.Arg1113Ter	coding	Pathogenic/Likely_pathogenic
6	7579538	T	A	T7579538A	DSP	NM_004415.4(DSP):c.3348T>A:p.Tyr1116Ter	coding	Pathogenic
6	7579700	G	A	G7579700A	DSP	NM_004415.4(DSP):c.3510G>A:p.Glu1170=	coding	Benign/Likely_benign
6	7579761	G	T	G7579761T	DSP	NM_004415.4(DSP):c.3571G>T:p.Glu1191Ter	coding	Pathogenic
6	7579820	T	A	T7579820A	DSP	NM_004415.4(DSP):c.3630T>A:p.Tyr1210Ter	coding	Pathogenic/Likely_pathogenic
6	7579886	C	A	C7579886A	DSP	NM_004415.4(DSP):c.3696C>A:p.Ser1232=	coding	Benign/Likely_benign
6	7579995	C	T	C7579995T	DSP	NM_004415.4(DSP):c.3805C>T:p.Arg1269Ter	coding	Pathogenic/Likely_pathogenic
6	7580055	C	T	C7580055T	DSP	NM_004415.4(DSP):c.3865C>T:p.Gln1289Ter	coding	Pathogenic/Likely_pathogenic
6	7580113	G	A	G7580113A	DSP	NM_004415.4(DSP):c.3923G>A:p.Arg1308Gln	coding	Benign/Likely_benign
6	7580151	C	T	C7580151T	DSP	NM_004415.4(DSP):c.3961C>T:p.Gln1321Ter	coding	Pathogenic
6	7580153	G	A	G7580153A	DSP	NM_004415.4(DSP):c.3963G>A:p.Gln1321=	coding	Benign/Likely_benign
6	7580244	A	T	A7580244T	DSP	NM_004415.4(DSP):c.4054A>T:p.Arg1352Ter	coding	Pathogenic
6	7580275	T	A	T7580275A	DSP	NM_004415.4(DSP):c.4085T>A:p.Leu1362Ter	coding	Pathogenic
6	7580331	A	T	A7580331T	DSP	NM_004415.4(DSP):c.4141A>T:p.Thr1381Ser	coding	Benign/Likely_benign
6	7580370	C	T	C7580370T	DSP	NM_004415.4(DSP):c.4180C>T:p.Gln1394Ter	coding	Pathogenic/Likely_pathogenic
6	7580388	C	T	C7580388T	DSP	NM_004415.4(DSP):c.4198C>T:p.Arg1400Ter	coding	Pathogenic
6	7580510	G	A	G7580510A	DSP	NM_004415.4(DSP):c.4320G>A:p.Val1440=	coding	Benign/Likely_benign
6	7580547	C	T	C7580547T	DSP	NM_004415.4(DSP):c.4357C>T:p.Gln1453Ter	coding	Pathogenic
6	7580562	C	T	C7580562T	DSP	NM_004415.4(DSP):c.4372C>T:p.Arg1458Ter	coding	Pathogenic/Likely_pathogenic
6	7580573	G	A	G7580573A	DSP	NM_004415.4(DSP):c.4383G>A:p.Glu1461=	coding	Benign/Likely_benign
6	7580585	T	G	T7580585G	DSP	NM_004415.4(DSP):c.4395T>G:p.Tyr1465Ter	coding	Pathogenic/Likely_pathogenic
6	7580591	A	G	A7580591G	DSP	NM_004415.4(DSP):c.4401A>G:p.Gln1467=	coding	Benign/Likely_benign
6	7580645	G	T	G7580645T	DSP	NM_004415.4(DSP):c.4455G>T:p.Arg1485Ser	coding	Benign/Likely_benign
6	7580690	G	T	G7580690T	DSP	NM_004415.4(DSP):c.4500G>T:p.Leu1500=	coding	Benign/Likely_benign
6	7580721	C	T	C7580721T	DSP	NM_004415.4(DSP):c.4531C>T:p.Gln1511Ter	coding	Pathogenic
6	7580725	A	G	A7580725G	DSP	NM_004415.4(DSP):c.4535A>G:p.Tyr1512Cys	coding	Benign
6	7580768	C	A	C7580768A	DSP	NM_004415.4(DSP):c.4578C>A:p.Asn1526Lys	coding	Benign
6	7580778	G	T	G7580778T	DSP	NM_004415.4(DSP):c.4588G>T:p.Val1530Phe	coding	Benign/Likely_benign
6	7580799	C	T	C7580799T	DSP	NM_004415.4(DSP):c.4609C>T:p.Arg1537Cys	coding	Benign/Likely_benign
6	7580963	G	A	G7580963A	DSP	NM_004415.4(DSP):c.4773G>A:p.Arg1591=	coding	Benign/Likely_benign
6	7581012	C	T	C7581012T	DSP	NM_004415.4(DSP):c.4822C>T:p.Gln1608Ter	coding	Pathogenic
6	7581189	C	T	C7581189T	DSP	NM_004415.4(DSP):c.4999C>T:p.Gln1667Ter	coding	Pathogenic/Likely_pathogenic
6	7581402	C	T	C7581402T	DSP	NM_004415.4(DSP):c.5212C>T:p.Arg1738Ter	coding	Pathogenic
6	7581403	G	A	G7581403A	DSP	NM_004415.4(DSP):c.5213G>A:p.Arg1738Gln	coding	Benign
6	7581459	C	T	C7581459T	DSP	NM_004415.4(DSP):c.5269C>T:p.Gln1757Ter	coding	Pathogenic/Likely_pathogenic
6	7581494	G	C	G7581494C	DSP	NM_004415.4(DSP):c.5304G>C:p.Gly1768=	coding	Benign/Likely_benign
6	7582760	A	T	A7582760T	DSP	NM_004415.4(DSP):c.5498A>T:p.Glu1833Val	coding	Benign/Likely_benign
6	7583062	C	T	C7583062T	DSP	NM_004415.4(DSP):c.5800C>T:p.Arg1934Ter	coding	Pathogenic/Likely_pathogenic
6	7583113	C	T	C7583113T	DSP	NM_004415.4(DSP):c.5851C>T:p.Arg1951Ter	coding	Pathogenic/Likely_pathogenic
6	7583454	T	C	T7583454C	DSP	NM_004415.4(DSP):c.6192T>C:p.Asn2064=	coding	Benign
6	7583470	G	A	G7583470A	DSP	NM_004415.4(DSP):c.6208G>A:p.Asp2070Asn	coding	Benign/Likely_benign
6	7583613	T	C	T7583613C	DSP	NM_004415.4(DSP):c.6351T>C:p.Asp2117=	coding	Benign/Likely_benign
6	7583643	C	T	C7583643T	DSP	NM_004415.4(DSP):c.6381C>T:p.Ala2127=	coding	Benign/Likely_benign
6	7583652	T	C	T7583652C	DSP	NM_004415.4(DSP):c.6390T>C:p.Ala2130=	coding	Benign/Likely_benign
6	7583740	C	T	C7583740T	DSP	NM_004415.4(DSP):c.6478C>T:p.Arg2160Ter	coding	Pathogenic
6	7583758	C	T	C7583758T	DSP	NM_004415.4(DSP):c.6496C>T:p.Arg2166Ter	coding	Pathogenic/Likely_pathogenic
6	7583917	G	A	G7583917A	DSP	NM_004415.4(DSP):c.6655G>A:p.Val2219Ile	coding	Benign/Likely_benign
6	7584015	G	A	G7584015A	DSP	NM_004415.4(DSP):c.6753G>A:p.Lys2251=	coding	Benign/Likely_benign
6	7584061	A	T	A7584061T	DSP	NM_004415.4(DSP):c.6799A>T:p.Thr2267Ser	coding	Benign/Likely_benign
6	7584112	C	T	C7584112T	DSP	NM_004415.4(DSP):c.6850C>T:p.Arg2284Ter	coding	Pathogenic
6	7584202	G	T	G7584202T	DSP	NM_004415.4(DSP):c.6940G>T:p.Glu2314Ter	coding	Pathogenic
6	7584359	G	A	G7584359A	DSP	NM_004415.4(DSP):c.7097G>A:p.Arg2366His	coding	Pathogenic
6	7584384	C	T	C7584384T	DSP	NM_004415.4(DSP):c.7122C>T:p.Thr2374=	coding	Benign
6	7584502	G	T	G7584502T	DSP	NM_004415.4(DSP):c.7240G>T:p.Gly2414Ter	coding	Pathogenic
6	7584540	T	C	T7584540C	DSP	NM_004415.4(DSP):c.7278T>C:p.Tyr2426=	coding	Benign/Likely_benign
6	7584810	G	A	G7584810A	DSP	NM_004415.4(DSP):c.7548G>A:p.Arg2516=	coding	Benign/Likely_benign
6	7584904	C	T	C7584904T	DSP	NM_004415.4(DSP):c.7642C>T:p.Arg2548Ter	coding	Pathogenic
6	7584996	C	T	C7584996T	DSP	NM_004415.4(DSP):c.7734C>T:p.Ser2578=	coding	Benign/Likely_benign
6	7585257	G	A	G7585257A	DSP	NM_004415.4(DSP):c.7995G>A:p.Thr2665=	coding	Benign/Likely_benign
6	7585276	C	T	C7585276T	DSP	NM_004415.4(DSP):c.8014C>T:p.Gln2672Ter	coding	Pathogenic
6	7585432	C	T	C7585432T	DSP	NM_004415.4(DSP):c.8170C>T:p.Gln2724Ter	coding	Pathogenic
6	7585437	C	A	C7585437A	DSP	NM_004415.4(DSP):c.8175C>A:p.Arg2725=	coding	Benign
6	7585530	A	C	A7585530C	DSP	NM_004415.4(DSP):c.8268A>C:p.Ile2756=	coding	Benign/Likely_benign
6	7585562	C	A	C7585562A	DSP	NM_004415.4(DSP):c.8300C>A:p.Thr2767Asn	coding	Benign/Likely_benign
6	7585677	C	T	C7585677T	DSP	NM_004415.4(DSP):c.8415C>T:p.Ala2805=	coding	Benign/Likely_benign
6	7585734	G	C	G7585734C	DSP	NM_004415.4(DSP):c.8472G>C:p.Gly2824=	coding	Benign
6	7585743	C	T	C7585743T	DSP	NM_004415.4(DSP):c.8481C>T:p.Ser2827=	coding	Benign/Likely_benign
6	7585763	G	A	G7585763A	DSP	NM_004415.4(DSP):c.8501G>A:p.Arg2834His	coding	Pathogenic
6	7585806	A	C	A7585806C	DSP	NM_004415.4(DSP):c.8544A>C:p.Gly2848=	coding	Benign/Likely_benign
6	7585867	A	G	A7585867G	DSP	NM_004415.4(DSP):c.8605A>G:p.Ile2869Val	coding	Benign/Likely_benign
6	7585887	T	A	T7585887A	DSP	NM_004415.4(DSP):c.*9T>A	noncoding	Benign/Likely_benign
6	7585917	T	C	T7585917C	DSP	NM_004415.4(DSP):c.*39T>C	noncoding	Benign
6	7586075	C	T	C7586075T	DSP	NM_004415.4(DSP):c.*197C>T	noncoding	Benign
6	7727435	C	T	C7727435T	BMP6	NM_001718.6(BMP6):c.480C>T:p.Ser160=	coding	Benign
6	7883235	C	T	C7883235T	TXNDC5	NM_030810.5(TXNDC5):c.1208G>A:p.Arg403Gln	coding	Benign
6	10398474	G	A	G10398474A	TFAP2A	NM_001032280.3(TFAP2A):c.1239C>T:p.Asn413=	coding	Benign
6	10398543	C	A	C10398543A	TFAP2A	NM_001372066.1(TFAP2A):c.1194G>T:p.Thr398=	coding	Benign
6	10400555	G	A	G10400555A	TFAP2A	NM_001372066.1(TFAP2A):c.924C>T:p.Tyr308=	coding	Benign
6	10400587	C	T	C10400587T	TFAP2A	NM_001032280.3(TFAP2A):c.868G>A:p.Glu290Lys	coding	Pathogenic
6	10402555	A	G	A10402555G	TFAP2A	NM_001032280.3(TFAP2A):c.802T>C:p.Leu268=	coding	Benign
6	10402590	C	T	C10402590T	TFAP2A	NM_001032280.3(TFAP2A):c.767G>A:p.Gly256Glu	coding	Pathogenic
6	10402608	G	A	G10402608A	TFAP2A	NM_001032280.3(TFAP2A):c.749C>T:p.Ala250Val	coding	Pathogenic/Likely_pathogenic
6	10404509	T	A	T10404509A	TFAP2A	NM_001032280.3(TFAP2A):c.745A>T:p.Arg249Trp	coding	Pathogenic
6	10404509	T	C	T10404509C	TFAP2A	NM_001042425.2(TFAP2A):c.751A>G:p.Arg251Gly	coding	Pathogenic/Likely_pathogenic
6	10404512	G	A	G10404512A	TFAP2A	NM_001032280.3(TFAP2A):c.742C>T:p.Arg248Trp	coding	Pathogenic
6	10404512	G	C	G10404512C	TFAP2A	NM_001032280.3(TFAP2A):c.742C>G:p.Arg248Gly	coding	Pathogenic
6	10404526	A	G	A10404526G	TFAP2A	NM_001372066.1(TFAP2A):c.752T>C:p.Leu251Pro	coding	Pathogenic
6	10404562	C	G	C10404562G	TFAP2A	NM_001032280.3(TFAP2A):c.692G>C:p.Arg231Pro	coding	Pathogenic
6	10404562	C	T	C10404562T	TFAP2A	NM_001032280.3(TFAP2A):c.692G>A:p.Arg231Gln	coding	Pathogenic
6	10404623	G	T	G10404623T	TFAP2A	NM_001042425.2(TFAP2A):c.637C>A:p.Arg213Ser	coding	Pathogenic
6	10404631	A	T	A10404631T	TFAP2A	NM_001042425.2(TFAP2A):c.629T>A:p.Val210Asp	coding	Pathogenic
6	10404699	G	A	G10404699A	TFAP2A	NM_001372066.1(TFAP2A):c.579C>T:p.Ser193=	coding	Benign
6	10406844	G	C	G10406844C	TFAP2A	NM_001372066.1(TFAP2A):c.487C>G:p.His163Asp	coding	Benign
6	10409961	G	A	G10409961A	TFAP2A	NM_001372066.1(TFAP2A):c.426C>T:p.Leu142=	coding	Benign
6	10410041	G	A	G10410041A	TFAP2A	NM_001372066.1(TFAP2A):c.346C>T:p.Leu116=	coding	Benign
6	10414933	G	A	G10414933A	TFAP2A	NM_001372066.1(TFAP2A):c.51+8C>T	coding	Benign
6	10529416	G	A	G10529416A	GCNT2	NM_145649.4(GCNT2):c.505G>A:p.Ala169Thr	coding	Pathogenic
6	10529594	G	A	G10529594A	GCNT2	NM_145649.4(GCNT2):c.683G>A:p.Arg228Gln	coding	Pathogenic
6	10555749	G	T	G10555749T	GCNT2	NM_001491.2(GCNT2):c.-675G>T	coding	Benign
6	10556106	G	C	G10556106C	GCNT2	NM_001491.2(GCNT2):c.-318G>C	coding	Benign
6	10556431	T	C	T10556431C	GCNT2	NM_001491.2(GCNT2):c.8T>C:p.Leu3Ser	coding	Benign
6	10556639	C	T	C10556639T	GCNT2	NM_001491.2(GCNT2):c.216C>T:p.Cys72=	coding	Benign
6	10556753	G	A	G10556753A	GCNT2	NM_001491.2(GCNT2):c.330G>A:p.Arg110=	coding	Benign
6	10556940	A	G	A10556940G	GCNT2	NM_001491.2(GCNT2):c.517A>G:p.Arg173Gly	coding	Benign
6	10557053	T	G	T10557053G	GCNT2	NM_001491.2(GCNT2):c.630T>G:p.Gly210=	coding	Benign/Likely_benign
6	10557110	T	C	T10557110C	GCNT2	NM_001491.2(GCNT2):c.687T>C:p.Tyr229=	coding	Benign
6	10557164	G	A	G10557164A	GCNT2	NM_001491.2(GCNT2):c.741G>A:p.Ala247=	coding	Benign
6	10586494	G	A	G10586494A	GCNT2	NM_145649.5(GCNT2):c.926-34857G>A	coding	Benign
6	10626444	A	G	A10626444G	GCNT2	NM_145649.5(GCNT2):c.1046A>G:p.Tyr349Cys	coding	Pathogenic
6	10626447	G	A	G10626447A	GCNT2	NM_001491.2(GCNT2):c.1043G>A:p.Gly348Glu	coding	Pathogenic
6	10626489	T	C	T10626489C	GCNT2	NM_145649.4(GCNT2):c.1091T>C:p.Phe364Ser	coding	Pathogenic
6	10626552	G	A	G10626552A	GCNT2	NM_001491.2(GCNT2):c.1148G>A:p.Arg383His	coding	Pathogenic
6	10626688	G	A	G10626688A	GCNT2	NM_001491.2(GCNT2):c.*81G>A	noncoding	Benign
6	10626712	C	T	C10626712T	GCNT2	NM_001491.2(GCNT2):c.*105C>T	noncoding	Benign
6	10626832	G	A	G10626832A	GCNT2	NM_001491.2(GCNT2):c.*225G>A	noncoding	Benign
6	10627005	T	A	T10627005A	GCNT2	NM_145649.5(GCNT2):c.*398T>A	noncoding	Benign
6	10627278	C	T	C10627278T	GCNT2	NM_001491.2(GCNT2):c.*671C>T	noncoding	Benign
6	10627289	G	C	G10627289C	GCNT2	NM_001491.2(GCNT2):c.*682G>C	noncoding	Benign
6	10627375	G	A	G10627375A	GCNT2	NM_145649.5(GCNT2):c.*768G>A	noncoding	Benign
6	10627546	G	T	G10627546T	GCNT2	NM_001491.2(GCNT2):c.*939G>T	noncoding	Benign
6	10627781	T	C	T10627781C	GCNT2	NM_001491.2(GCNT2):c.*1174T>C	noncoding	Benign
6	10628340	T	G	T10628340G	GCNT2	NM_001491.2(GCNT2):c.*1733T>G	noncoding	Benign
6	10629059	G	C	G10629059C	GCNT2	NM_001491.2(GCNT2):c.*2452G>C	noncoding	Benign
6	10629127	C	A	C10629127A	GCNT2	NM_001491.2(GCNT2):c.*2520C>A	noncoding	Benign
6	10762764	G	T	G10762764T	MAK	NM_001242957.3(MAK):c.*1688C>A	noncoding	Benign
6	10763079	G	A	G10763079A	MAK	NM_001242957.3(MAK):c.*1373C>T	noncoding	Benign
6	10764494	A	G	A10764494G	MAK	NM_001242957.3(MAK):c.1905T>C:p.His635=	coding	Benign
6	10773106	C	A	C10773106A	MAK	NM_001242957.3(MAK):c.1600G>T:p.Glu534Ter	coding	Pathogenic
6	10791746	G	A	G10791746A	MAK	NM_001242957.2(MAK):c.1245C>T:p.Phe415=	coding	Benign
6	10801909	G	A	G10801909A	MAK	NM_001242957.3(MAK):c.814C>T:p.Arg272Ter	coding	Pathogenic
6	10802005	G	A	G10802005A	MAK	NM_001242957.3(MAK):c.718C>T:p.Gln240Ter	coding	Pathogenic
6	10803886	C	T	C10803886T	MAK	NM_001242957.3(MAK):c.497G>A:p.Arg166His	coding	Pathogenic
6	10808801	C	G	C10808801G	MAK	NM_001242957.2(MAK):c.491+9G>C	noncoding	Benign
6	10808913	T	G	T10808913G	MAK	NM_001242957.3(MAK):c.388A>C:p.Asn130His	coding	Pathogenic
6	10830570	C	G	C10830570G	MAK	NM_001242957.3(MAK):c.79G>C:p.Gly27Arg	coding	Pathogenic
6	10830612	C	T	C10830612T	MAK	NM_001242957.3(MAK):c.37G>A:p.Gly13Ser	coding	Pathogenic
6	10830621	A	G	A10830621G	MAK	NM_001242957.2(MAK):c.28T>C:p.Leu10=	coding	Benign
6	10873361	G	A	G10873361A	GCM2	NM_004752.4(GCM2):c.*634C>T	noncoding	Benign
6	10873474	G	T	G10873474T	GCM2	NM_004752.4(GCM2):c.*521C>A	noncoding	Benign
6	10874456	T	C	T10874456C	GCM2	NM_004752.4(GCM2):c.1060A>G:p.Met354Val	coding	Benign/Likely_benign
6	10874573	T	C	T10874573C	GCM2	NM_004752.4(GCM2):c.943A>G:p.Asn315Asp	coding	Benign/Likely_benign
6	10874613	G	A	G10874613A	GCM2	NM_004752.4(GCM2):c.903C>T:p.Asp301=	coding	Benign
6	10874619	A	G	A10874619G	GCM2	NM_004752.4(GCM2):c.897T>C:p.Pro299=	coding	Benign
6	10874672	A	C	A10874672C	GCM2	NM_004752.4(GCM2):c.844T>G:p.Tyr282Asp	coding	Benign
6	10874837	T	C	T10874837C	GCM2	NM_004752.4(GCM2):c.679A>G:p.Ile227Val	coding	Benign
6	10876011	C	T	C10876011T	GCM2	NM_004752.4(GCM2):c.462G>A:p.Lys154=	coding	Benign
6	10876493	G	T	G10876493T	GCM2	NM_004752.4(GCM2):c.408C>A:p.Tyr136Ter	coding	Pathogenic
6	10876551	G	A	G10876551A	GCM2	NM_004752.4(GCM2):c.350C>T:p.Ala117Val	coding	Benign
6	10877177	C	T	C10877177T	GCM2	NM_004752.4(GCM2):c.306G>A:p.Arg102=	coding	Benign
6	10877296	C	T	C10877296T	GCM2	NM_004752.4(GCM2):c.187G>A:p.Gly63Ser	coding	Pathogenic
6	10877297	G	A	G10877297A	GCM2	NM_004752.4(GCM2):c.186C>T:p.Ser62=	coding	Benign/Likely_benign
6	10877343	C	A	C10877343A	GCM2	NM_004752.4(GCM2):c.140G>T:p.Arg47Leu	coding	Pathogenic
6	10881837	A	G	A10881837G	GCM2	NM_004752.4(GCM2):c.-44T>C	noncoding	Benign
6	10881867	G	A	G10881867A	GCM2	NM_004752.3(GCM2):c.-74C>T	noncoding	Benign
6	11189970	G	A	G11189970A	NEDD9	NM_006403.4(NEDD9):c.1899C>T:p.His633=	coding	Benign
6	11190126	G	A	G11190126A	NEDD9	NM_006403.4(NEDD9):c.1743C>T:p.His581=	coding	Benign
6	12120303	A	G	A12120303G	HIVEP1	NM_002114.4(HIVEP1):c.508A>G:p.Ser170Gly	coding	Benign
6	12120419	C	T	C12120419T	HIVEP1	NM_002114.4(HIVEP1):c.624C>T:p.Ser208=	coding	Benign
6	12120880	C	T	C12120880T	HIVEP1	NM_002114.4(HIVEP1):c.1085C>T:p.Pro362Leu	coding	Benign
6	12121380	C	T	C12121380T	HIVEP1	NM_002114.4(HIVEP1):c.1585C>T:p.Leu529=	coding	Benign
6	12121673	C	T	C12121673T	HIVEP1	NM_002114.4(HIVEP1):c.1878C>T:p.Gly626=	coding	Benign
6	12121869	T	G	T12121869G	HIVEP1	NM_002114.4(HIVEP1):c.2074T>G:p.Phe692Val	coding	Benign
6	12122277	G	A	G12122277A	HIVEP1	NM_002114.4(HIVEP1):c.2482G>A:p.Val828Ile	coding	Benign
6	12122324	G	A	G12122324A	HIVEP1	NM_002114.4(HIVEP1):c.2529G>A:p.Pro843=	coding	Benign
6	12122540	T	C	T12122540C	HIVEP1	NM_002114.4(HIVEP1):c.2745T>C:p.Thr915=	coding	Benign
6	12122959	C	T	C12122959T	HIVEP1	NM_002114.4(HIVEP1):c.3164C>T:p.Ser1055Phe	coding	Benign
6	12122999	C	T	C12122999T	HIVEP1	NM_002114.4(HIVEP1):c.3204C>T:p.Pro1068=	coding	Benign
6	12123016	A	G	A12123016G	HIVEP1	NM_002114.4(HIVEP1):c.3221A>G:p.Asn1074Ser	coding	Benign
6	12123884	G	C	G12123884C	HIVEP1	NM_002114.4(HIVEP1):c.4089G>C:p.Met1363Ile	coding	Pathogenic
6	12123982	C	T	C12123982T	HIVEP1	NM_002114.4(HIVEP1):c.4187C>T:p.Pro1396Leu	coding	Benign
6	12124079	A	G	A12124079G	HIVEP1	NM_002114.4(HIVEP1):c.4284A>G:p.Pro1428=	coding	Benign
6	12124302	G	A	G12124302A	HIVEP1	NM_002114.4(HIVEP1):c.4507G>A:p.Val1503Ile	coding	Benign
6	12124354	C	G	C12124354G	HIVEP1	NM_002114.4(HIVEP1):c.4559C>G:p.Ala1520Gly	coding	Benign
6	12124400	G	A	G12124400A	HIVEP1	NM_002114.4(HIVEP1):c.4605G>A:p.Thr1535=	coding	Benign
6	12124446	A	G	A12124446G	HIVEP1	NM_002114.4(HIVEP1):c.4651A>G:p.Lys1551Glu	coding	Benign
6	12125308	A	G	A12125308G	HIVEP1	NM_002114.4(HIVEP1):c.5513A>G:p.Asn1838Ser	coding	Benign
6	12125381	G	A	G12125381A	HIVEP1	NM_002114.4(HIVEP1):c.5586G>A:p.Lys1862=	coding	Benign
6	12125428	C	T	C12125428T	HIVEP1	NM_002114.4(HIVEP1):c.5633C>T:p.Ser1878Leu	coding	Benign
6	12125539	A	G	A12125539G	HIVEP1	NM_002114.4(HIVEP1):c.5744A>G:p.Gln1915Arg	coding	Benign
6	12135786	T	C	T12135786C	HIVEP1	NM_002114.4(HIVEP1):c.6386-5T>C	noncoding	Benign
6	12161835	C	T	C12161835T	HIVEP1	NM_002114.4(HIVEP1):c.6884C>T:p.Ser2295Phe	coding	Benign/Likely_benign
6	12163295	G	C	G12163295C	HIVEP1	NM_002114.4(HIVEP1):c.6991G>C:p.Val2331Leu	coding	Benign/Likely_benign
6	12163424	C	T	C12163424T	HIVEP1	NM_002114.4(HIVEP1):c.7120C>T:p.Pro2374Ser	coding	Benign
6	12163635	C	T	C12163635T	HIVEP1	NM_002114.4(HIVEP1):c.7331C>T:p.Thr2444Met	coding	Benign
6	12164223	C	T	C12164223T	HIVEP1	NM_002114.4(HIVEP1):c.7919C>T:p.Ser2640Leu	coding	Benign
6	12292366	G	A	G12292366A	EDN1	NM_001955.5(EDN1):c.90G>A:p.Ala30=	coding	Benign
6	12292382	G	A	G12292382A	EDN1	NM_001955.5(EDN1):c.106G>A:p.Gly36Arg	coding	Benign
6	12292417	C	T	C12292417T	EDN1	NM_001955.5(EDN1):c.141C>T:p.Leu47=	coding	Benign
6	12292467	T	A	T12292467A	EDN1	NM_001955.5(EDN1):c.191T>A:p.Val64Asp	coding	Pathogenic
6	12292506	C	A	C12292506A	EDN1	NM_001955.5(EDN1):c.230C>A:p.Pro77His	coding	Pathogenic
6	12293956	T	G	T12293956G	EDN1	NM_001955.5(EDN1):c.249T>G:p.Tyr83Ter	coding	Pathogenic
6	12293978	A	G	A12293978G	EDN1	NM_001955.5(EDN1):c.271A>G:p.Lys91Glu	coding	Pathogenic
6	12294351	A	C	A12294351C	EDN1	NM_001955.5(EDN1):c.480A>C:p.Leu160Phe	coding	Benign
6	12296022	G	T	G12296022T	EDN1	NM_001955.5(EDN1):c.594G>T:p.Lys198Asn	coding	Benign
6	13272904	A	T	A13272904T	PHACTR1	NM_001318809.1(TBC1D7-LOC100130357):c.40-5069T>A	coding	Pathogenic
6	13283473	C	T	C13283473T	PHACTR1	NM_001318809.1(TBC1D7-LOC100130357):c.40-15638G>A	coding	Pathogenic
6	13305113	G	C	G13305113C	TBC1D7	NM_016495.6(TBC1D7):c.870C>G:p.Val290=	coding	Benign
6	13306515	T	C	T13306515C	TBC1D7	NM_016495.6(TBC1D7):c.678A>G:p.Lys226=	coding	Benign
6	13307671	C	T	C13307671T	TBC1D7	NM_016495.6(TBC1D7):c.594G>A:p.Ala198=	coding	Benign
6	13307677	G	A	G13307677A	TBC1D7	NM_016495.6(TBC1D7):c.588C>T:p.Ser196=	coding	Benign
6	13316684	C	T	C13316684T	TBC1D7	NM_016495.6(TBC1D7):c.406G>A:p.Ala136Thr	coding	Benign/Likely_benign
6	13320947	C	T	C13320947T	TBC1D7	NM_016495.6(TBC1D7):c.342G>A:p.Leu114=	coding	Benign
6	13321089	A	C	A13321089C	TBC1D7	NM_016495.6(TBC1D7):c.200T>G:p.Leu67Trp	coding	Benign
6	13806962	G	A	G13806962A	MCUR1	NM_001031713.3(MCUR1):c.498C>T:p.Phe166=	coding	Benign
6	14135163	G	A	G14135163A	CD83	NM_004233.4(CD83):c.545G>A:p.Arg182Gln	coding	Benign
6	15468627	A	G	A15468627G	JARID2	NM_004973.4(JARID2):c.579A>G:p.Glu193=	coding	Benign
6	15468645	C	T	C15468645T	JARID2	NM_004973.4(JARID2):c.597C>T:p.Thr199=	coding	Benign
6	15487352	A	C	A15487352C	JARID2	NM_004973.4(JARID2):c.716A>C:p.Gln239Pro	coding	Benign
6	15496587	G	A	G15496587A	JARID2	NM_004973.4(JARID2):c.1362G>A:p.Gln454=	coding	Benign
6	15496666	C	T	C15496666T	JARID2	NM_004973.4(JARID2):c.1441C>T:p.Leu481=	coding	Benign
6	15496699	C	T	C15496699T	JARID2	NM_004973.4(JARID2):c.1474C>T:p.Arg492Cys	coding	Benign
6	15496914	C	T	C15496914T	JARID2	NM_004973.4(JARID2):c.1689C>T:p.Ser563=	coding	Benign
6	15501183	C	T	C15501183T	JARID2	NM_004973.4(JARID2):c.2222C>T:p.Thr741Ile	coding	Benign
6	15504538	G	A	G15504538A	JARID2	NM_004973.4(JARID2):c.2487G>A:p.Ala829=	coding	Benign
6	15513311	C	T	C15513311T	JARID2	NM_004973.4(JARID2):c.3339C>T:p.His1113=	coding	Benign
6	15517184	C	T	C15517184T	JARID2	NM_004973.4(JARID2):c.3474C>T:p.Val1158=	coding	Benign
6	15517214	C	T	C15517214T	JARID2	NM_004973.4(JARID2):c.3504C>T:p.His1168=	coding	Benign
6	15517262	C	T	C15517262T	JARID2	NM_004973.4(JARID2):c.3552C>T:p.Tyr1184=	coding	Benign
6	15520182	G	C	G15520182C	JARID2	NM_004973.4(JARID2):c.3672G>C:p.Ala1224=	coding	Benign
6	15523145	G	A	G15523145A	DTNBP1	NM_032122.4(DTNBP1):c.886C>T:p.Pro296Ser	coding	Benign
6	15523157	T	C	T15523157C	DTNBP1	NM_032122.5(DTNBP1):c.874A>G:p.Arg292Gly	coding	Benign
6	15523217	G	A	G15523217A	DTNBP1	NM_032122.5(DTNBP1):c.814C>T:p.Pro272Ser	coding	Benign
6	15524448	G	A	G15524448A	DTNBP1	NM_032122.5(DTNBP1):c.811+78C>T	coding	Benign
6	15524467	T	C	T15524467C	DTNBP1	NM_032122.5(DTNBP1):c.811+59A>G	coding	Benign
6	15524569	C	A	C15524569A	DTNBP1	NM_032122.5(DTNBP1):c.768G>T:p.Leu256=	coding	Benign
6	15524677	T	C	T15524677C	DTNBP1	NM_183040.2(DTNBP1):c.668-8A>G	noncoding	Benign
6	15533238	G	A	G15533238A	DTNBP1	NM_032122.5(DTNBP1):c.667+2C>T	noncoding	Benign
6	15593009	T	C	T15593009C	DTNBP1	NM_183040.2(DTNBP1):c.511+50A>G	noncoding	Benign
6	15615406	G	A	G15615406A	DTNBP1	NM_032122.5(DTNBP1):c.356-7C>T	noncoding	Benign
6	15627391	G	A	G15627391A	DTNBP1	NM_032122.5(DTNBP1):c.307C>T:p.Gln103Ter	coding	Pathogenic
6	15627422	T	C	T15627422C	DTNBP1	NM_032122.5(DTNBP1):c.276A>G:p.Thr92=	coding	Benign/Likely_benign
6	15627464	G	A	G15627464A	DTNBP1	NM_032122.5(DTNBP1):c.234C>T:p.Ser78=	coding	Benign
6	15637789	C	T	C15637789T	DTNBP1	NM_032122.5(DTNBP1):c.177G>A:p.Trp59Ter	coding	Pathogenic
6	15662887	T	C	T15662887C	DTNBP1	NM_032122.5(DTNBP1):c.-18A>G	noncoding	Benign
6	16274423	C	T	C16274423T	GMPR	NM_006877.4(GMPR):c.474C>T:p.Asn158=	coding	Benign
6	16290511	G	A	G16290511A	GMPR	NM_006877.4(GMPR):c.747G>A:p.Thr249=	coding	Benign
6	16290530	T	A	T16290530A	GMPR	NM_006877.4(GMPR):c.766T>A:p.Phe256Ile	coding	Benign
6	16295047	A	T	A16295047T	GMPR	NM_006877.4(GMPR):c.899A>T:p.Asp300Val	coding	Benign
6	17624573	T	C	T17624573C	NUP153	NM_005124.4(NUP153):c.4162A>G:p.Thr1388Ala	coding	Benign
6	17628773	T	C	T17628773C	NUP153	NM_005124.4(NUP153):c.3426A>G:p.Lys1142=	coding	Benign
6	17628860	A	G	A17628860G	NUP153	NM_005124.4(NUP153):c.3339T>C:p.Ser1113=	coding	Benign
6	17628941	G	A	G17628941A	NUP153	NM_005124.4(NUP153):c.3258C>T:p.Asn1086=	coding	Benign
6	17629398	A	G	A17629398G	NUP153	NM_005124.4(NUP153):c.2801T>C:p.Ile934Thr	coding	Benign
6	17639956	T	G	T17639956G	NUP153	NM_005124.4(NUP153):c.1829A>C:p.Asp610Ala	coding	Benign
6	17649153	G	A	G17649153A	NUP153	NM_005124.4(NUP153):c.1533+10C>T	noncoding	Benign
6	17688463	G	A	G17688463A	NUP153	NM_005124.4(NUP153):c.267C>T:p.Ala89=	coding	Benign
6	17706293	C	T	C17706293T	NUP153	NM_005124.4(NUP153):c.95G>A:p.Gly32Glu	coding	Benign
6	17764665	G	C	G17764665C	KIF13A	NM_022113.6(KIF13A):c.4863C>G:p.Asp1621Glu	coding	Benign
6	17787857	C	G	C17787857G	KIF13A	NM_022113.6(KIF13A):c.3280G>C:p.Val1094Leu	coding	Benign
6	17794632	A	G	A17794632G	KIF13A	NM_022113.6(KIF13A):c.3015T>C:p.Ala1005=	coding	Benign
6	17825877	C	T	C17825877T	KIF13A	NM_022113.6(KIF13A):c.1677G>A:p.Thr559=	coding	Benign
6	17837084	A	G	A17837084G	KIF13A	NM_022113.6(KIF13A):c.949T>C:p.Leu317=	coding	Benign
6	17850345	G	A	G17850345A	KIF13A	NM_022113.6(KIF13A):c.695C>T:p.Thr232Ile	coding	Benign
6	17850416	C	T	C17850416T	KIF13A	NM_022113.6(KIF13A):c.624G>A:p.Thr208=	coding	Benign
6	18120533	C	T	C18120533T	NHLRC1	NM_198586.3(NHLRC1):c.*886G>A	noncoding	Benign
6	18120793	G	A	G18120793A	NHLRC1	NM_198586.3(NHLRC1):c.*626C>T	noncoding	Benign
6	18120798	A	T	A18120798T	NHLRC1	NM_198586.3(NHLRC1):c.*621T>A	noncoding	Benign
6	18120937	G	C	G18120937C	NHLRC1	NM_198586.3(NHLRC1):c.*482C>G	noncoding	Benign
6	18121182	A	G	A18121182G	NHLRC1	NM_198586.3(NHLRC1):c.*237T>C	noncoding	Benign
6	18121334	A	T	A18121334T	NHLRC1	NM_198586.3(NHLRC1):c.*85T>A	noncoding	Benign
6	18121364	C	G	C18121364G	NHLRC1	NM_198586.3(NHLRC1):c.*55G>C	noncoding	Benign
6	18121516	G	T	G18121516T	NHLRC1	NM_198586.3(NHLRC1):c.1091C>A:p.Ser364Ter	coding	Pathogenic
6	18121684	T	G	T18121684G	NHLRC1	NM_198586.3(NHLRC1):c.923A>C:p.Asp308Ala	coding	Pathogenic
6	18121814	G	A	G18121814A	NHLRC1	NM_198586.3(NHLRC1):c.793C>T:p.Arg265Ter	coding	Pathogenic
6	18121865	C	A	C18121865A	NHLRC1	NM_198586.3(NHLRC1):c.742G>T:p.Glu248Ter	coding	Pathogenic
6	18121943	C	A	C18121943A	NHLRC1	NM_198586.3(NHLRC1):c.664G>T:p.Glu222Ter	coding	Pathogenic
6	18122014	A	T	A18122014T	NHLRC1	NM_198586.3(NHLRC1):c.593T>A:p.Ile198Asn	coding	Pathogenic
6	18122047	T	G	T18122047G	NHLRC1	NM_198586.3(NHLRC1):c.560A>C:p.His187Pro	coding	Pathogenic
6	18122221	G	T	G18122221T	NHLRC1	NM_198586.3(NHLRC1):c.386C>A:p.Pro129His	coding	Pathogenic
6	18122275	G	A	G18122275A	NHLRC1	NM_198586.3(NHLRC1):c.332C>T:p.Pro111Leu	coding	Benign
6	18122295	A	G	A18122295G	NHLRC1	NM_198586.3(NHLRC1):c.312T>C:p.His104=	coding	Benign
6	18122304	C	A	C18122304A	NHLRC1	NM_198586.3(NHLRC1):c.303G>T:p.Pro101=	coding	Benign
6	18122402	G	C	G18122402C	NHLRC1	NM_198586.3(NHLRC1):c.205C>G:p.Pro69Ala	coding	Pathogenic
6	18122531	A	T	A18122531T	NHLRC1	NM_198586.3(NHLRC1):c.76T>A:p.Cys26Ser	coding	Pathogenic
6	18122611	C	T	C18122611T	NHLRC1	NM_198586.3(NHLRC1):c.-5G>A	noncoding	Benign
6	18122641	C	A	C18122641A	NHLRC1	NM_198586.3(NHLRC1):c.-35G>T	noncoding	Benign
6	18122642	C	G	C18122642G	NHLRC1	NM_198586.3(NHLRC1):c.-36G>C	noncoding	Benign
6	18122711	G	C	G18122711C	NHLRC1	NC_000006.12:g.18122711G>C	noncoding	Benign
6	18161343	C	T	C18161343T	KDM1B	NM_001364614.2(KDM1B):c.104C>T:p.Thr35Ile	coding	Benign
6	18217725	G	C	G18217725C	KDM1B	NM_001364614.2(KDM1B):c.2233-8G>C	noncoding	Benign
6	20402579	C	T	C20402579T	E2F3	NM_001949.5(E2F3):c.347C>T:p.Pro116Leu	coding	Benign
6	20490197	G	A	G20490197A	E2F3	NM_001949.5(E2F3):c.1165G>A:p.Asp389Asn	coding	Benign
6	20649303	C	T	C20649303T	CDKAL1	NM_017774.3(CDKAL1):c.297C>T:p.Ser99=	coding	Benign
6	20781218	G	A	G20781218A	CDKAL1	NM_017774.3(CDKAL1):c.591G>A:p.Pro197=	coding	Benign
6	21230844	A	G	A21230844G	CDKAL1	NM_017774.3(CDKAL1):c.1549-4A>G	noncoding	Benign
6	21230991	G	A	G21230991A	CDKAL1	NM_017774.3(CDKAL1):c.1692G>A:p.Leu564=	coding	Benign
6	21594616	C	G	C21594616G	SOX4	NM_003107.3(SOX4):c.82C>G:p.Leu28Val	coding	Benign
6	21594710	T	G	T21594710G	SOX4	NM_003107.3(SOX4):c.176T>G:p.Ile59Ser	coding	Pathogenic/Likely_pathogenic
6	21594849	G	T	G21594849T	SOX4	NM_003107.3(SOX4):c.315G>T:p.Lys105Asn	coding	Pathogenic/Likely_pathogenic
6	21594868	G	C	G21594868C	SOX4	NM_003107.3(SOX4):c.334G>C:p.Ala112Pro	coding	Pathogenic/Likely_pathogenic
6	21594873	G	A	G21594873A	SOX4	NM_003107.3(SOX4):c.339G>A:p.Glu113=	coding	Benign
6	21595221	A	G	A21595221G	SOX4	NM_003107.3(SOX4):c.687A>G:p.Ala229=	coding	Benign
6	21595692	C	T	C21595692T	SOX4	NM_003107.3(SOX4):c.1158C>T:p.Ser386=	coding	Benign
6	21595749	G	C	G21595749C	SOX4	NM_003107.3(SOX4):c.1215G>C:p.Leu405=	coding	Benign
6	22292550	G	A	G22292550A	PRL	NM_000948.6(PRL):c.300C>T:p.Ala100=	coding	Benign
6	22292568	G	A	G22292568A	PRL	NM_000948.6(PRL):c.282C>T:p.Pro94=	coding	Benign
6	22294535	C	T	C22294535T	PRL	NM_000948.6(PRL):c.78G>A:p.Val26=	coding	Benign
6	24174793	T	A	T24174793A	DCDC2	NM_016356.5(DCDC2):c.1368A>T:p.Lys456Asn	coding	Benign
6	24174896	T	C	T24174896C	DCDC2	NM_016356.5(DCDC2):c.1327-62A>G	noncoding	Benign
6	24178271	G	A	G24178271A	DCDC2	NM_016356.5(DCDC2):c.1326+59C>T	noncoding	Benign
6	24178385	T	G	T24178385G	DCDC2	NM_016356.5(DCDC2):c.1271A>C:p.Gln424Pro	coding	Pathogenic
6	24178612	G	A	G24178612A	DCDC2	NM_016356.5(DCDC2):c.1044C>T:p.Asp348=	coding	Benign/Likely_benign
6	24178659	A	G	A24178659G	DCDC2	NM_016356.5(DCDC2):c.1024-27T>C	noncoding	Benign
6	24205008	G	A	G24205008A	DCDC2	NM_016356.5(DCDC2):c.1017C>T:p.Val339=	coding	Benign
6	24277972	G	C	G24277972C	DCDC2	NM_016356.5(DCDC2):c.922+77C>G	noncoding	Benign
6	24278081	A	T	A24278081T	DCDC2	NM_016356.5(DCDC2):c.890T>A:p.Leu297Ter	coding	Pathogenic
6	24278116	T	C	T24278116C	DCDC2	NM_016356.5(DCDC2):c.855A>G:p.Ser285=	coding	Benign/Likely_benign
6	24290975	T	C	T24290975C	DCDC2	NM_016356.5(DCDC2):c.661A>G:p.Ser221Gly	coding	Benign
6	24290987	T	A	T24290987A	DCDC2	NM_016356.5(DCDC2):c.649A>T:p.Lys217Ter	coding	Pathogenic
6	24301794	T	G	T24301794G	DCDC2	NM_016356.5(DCDC2):c.478A>C:p.Arg160=	coding	Benign/Likely_benign
6	24301818	G	C	G24301818C	DCDC2	NM_016356.5(DCDC2):c.454C>G:p.Pro152Ala	coding	Benign
6	24302010	G	C	G24302010C	DCDC2	NM_016356.5(DCDC2):c.383C>G:p.Ser128Ter	coding	Pathogenic
6	24302046	T	C	T24302046C	DCDC2	NM_016356.5(DCDC2):c.349-2A>G	noncoding	Pathogenic
6	24353625	T	C	T24353625C	DCDC2	NM_016356.5(DCDC2):c.294-2A>G	noncoding	Pathogenic
6	24357568	G	A	G24357568A	DCDC2	NM_016356.5(DCDC2):c.183C>T:p.Ala61=	coding	Benign
6	24357700	C	G	C24357700G	DCDC2	NM_016356.5(DCDC2):c.51G>C:p.Lys17Asn	coding	Pathogenic
6	24495006	T	G	T24495006G	ALDH5A1	NM_001080.3(ALDH5A1):c.10T>G:p.Cys4Gly	coding	Benign
6	24495014	G	T	G24495014T	ALDH5A1	NM_001080.3(ALDH5A1):c.18G>T:p.Trp6Cys	coding	Benign/Likely_benign
6	24495102	G	C	G24495102C	ALDH5A1	NM_001080.3(ALDH5A1):c.106G>C:p.Gly36Arg	coding	Benign
6	24495126	C	G	C24495126G	ALDH5A1	NM_001080.3(ALDH5A1):c.130C>G:p.Leu44Val	coding	Benign/Likely_benign
6	24495274	G	T	G24495274T	ALDH5A1	NM_001080.3(ALDH5A1):c.278G>T:p.Cys93Phe	coding	Pathogenic
6	24495331	G	A	G24495331A	ALDH5A1	NM_001080.3(ALDH5A1):c.335G>A:p.Trp112Ter	coding	Pathogenic
6	24502565	C	T	C24502565T	ALDH5A1	NM_001080.3(ALDH5A1):c.397C>T:p.Gln133Ter	coding	Pathogenic
6	24503304	C	T	C24503304T	ALDH5A1	NM_001080.3(ALDH5A1):c.480C>T:p.Ser160=	coding	Benign/Likely_benign
6	24503350	G	A	G24503350A	ALDH5A1	NM_001080.3(ALDH5A1):c.526G>A:p.Gly176Arg	coding	Pathogenic
6	24503362	C	T	C24503362T	ALDH5A1	NM_001080.3(ALDH5A1):c.538C>T:p.His180Tyr	coding	Benign
6	24503369	C	T	C24503369T	ALDH5A1	NM_001080.3(ALDH5A1):c.545C>T:p.Pro182Leu	coding	Benign
6	24504864	C	T	C24504864T	ALDH5A1	NM_001080.3(ALDH5A1):c.610-5C>T	noncoding	Benign
6	24504867	A	G	A24504867G	ALDH5A1	NM_001080.3(ALDH5A1):c.610-2A>G	noncoding	Pathogenic
6	24504871	G	A	G24504871A	ALDH5A1	NM_001080.3(ALDH5A1):c.612G>A:p.Trp204Ter	coding	Pathogenic
6	24504934	C	T	C24504934T	ALDH5A1	NM_001080.3(ALDH5A1):c.675C>T:p.Val225=	coding	Benign
6	24504937	G	C	G24504937C	ALDH5A1	NM_001080.3(ALDH5A1):c.678G>C:p.Val226=	coding	Benign/Likely_benign
6	24504968	G	T	G24504968T	ALDH5A1	NM_001080.3(ALDH5A1):c.709G>T:p.Ala237Ser	coding	Benign/Likely_benign
6	24504988	G	A	G24504988A	ALDH5A1	NM_001080.3(ALDH5A1):c.726+3G>A	noncoding	Benign
6	24504993	G	A	G24504993A	ALDH5A1	NM_001080.3(ALDH5A1):c.726+8G>A	noncoding	Benign
6	24515152	T	C	T24515152C	ALDH5A1	NM_001080.3(ALDH5A1):c.727-15T>C	noncoding	Benign
6	24515243	G	A	G24515243A	ALDH5A1	NM_001080.3(ALDH5A1):c.803G>A:p.Gly268Glu	coding	Pathogenic
6	24520416	G	A	G24520416A	ALDH5A1	NM_001080.3(ALDH5A1):c.886G>A:p.Ala296Thr	coding	Benign
6	24522765	A	C	A24522765C	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-2A>C	noncoding	Pathogenic
6	24528049	G	A	G24528049A	ALDH5A1	NM_001080.3(ALDH5A1):c.1226G>A:p.Gly409Asp	coding	Pathogenic/Likely_pathogenic
6	24528057	C	T	C24528057T	ALDH5A1	NM_001080.3(ALDH5A1):c.1234C>T:p.Arg412Ter	coding	Pathogenic
6	24528167	G	A	G24528167A	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+1G>A	coding	Pathogenic
6	24528167	G	T	G24528167T	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+1G>T	coding	Pathogenic
6	24532164	T	C	T24532164C	ALDH5A1	NM_001080.3(ALDH5A1):c.1389T>C:p.Asp463=	coding	Benign
6	24532178	G	A	G24532178A	ALDH5A1	NM_001080.3(ALDH5A1):c.1402+1G>A	coding	Pathogenic
6	24532184	G	A	G24532184A	ALDH5A1	NM_001080.3(ALDH5A1):c.1402+7G>A	noncoding	Benign
6	24533583	C	T	C24533583T	ALDH5A1	NM_001080.3(ALDH5A1):c.1479C>T:p.Asn493=	coding	Benign
6	24533701	G	A	G24533701A	ALDH5A1	NM_001080.3(ALDH5A1):c.1597G>A:p.Gly533Arg	coding	Pathogenic/Likely_pathogenic
6	24533965	C	A	C24533965A	ALDH5A1	NM_001080.3(ALDH5A1):c.*253C>A	noncoding	Benign
6	24534014	G	A	G24534014A	ALDH5A1	NM_001080.3(ALDH5A1):c.*302G>A	noncoding	Benign
6	24534097	G	C	G24534097C	ALDH5A1	NM_001080.3(ALDH5A1):c.*385G>C	noncoding	Benign
6	24534477	G	A	G24534477A	ALDH5A1	NM_001080.3(ALDH5A1):c.*765G>A	noncoding	Benign
6	24534526	G	T	G24534526T	ALDH5A1	NM_001080.3(ALDH5A1):c.*814G>T	noncoding	Benign
6	24534980	C	A	C24534980A	ALDH5A1	NM_001080.3(ALDH5A1):c.*1268C>A	noncoding	Benign
6	24535104	C	A	C24535104A	ALDH5A1	NM_001080.3(ALDH5A1):c.*1392C>A	noncoding	Benign
6	24535119	A	G	A24535119G	ALDH5A1	NM_001080.3(ALDH5A1):c.*1407A>G	noncoding	Benign
6	24535185	G	A	G24535185A	ALDH5A1	NM_001080.3(ALDH5A1):c.*1473G>A	noncoding	Benign
6	24535931	T	C	T24535931C	ALDH5A1	NM_001080.3(ALDH5A1):c.*2219T>C	noncoding	Benign
6	24536293	T	C	T24536293C	ALDH5A1	NM_001080.3(ALDH5A1):c.*2581T>C	noncoding	Benign
6	24536309	A	G	A24536309G	ALDH5A1	NM_001080.3(ALDH5A1):c.*2597A>G	noncoding	Benign
6	24536478	G	A	G24536478A	ALDH5A1	NM_001080.3(ALDH5A1):c.*2766G>A	noncoding	Benign
6	24536697	C	T	C24536697T	ALDH5A1	NM_001080.3(ALDH5A1):c.*2985C>T	noncoding	Benign
6	24556708	C	G	C24556708G	KIAA0319	NM_014809.4(KIAA0319):c.2756G>C:p.Gly919Ala	coding	Benign
6	24576557	T	C	T24576557C	KIAA0319	NM_014809.4(KIAA0319):c.1545A>G:p.Thr515=	coding	Benign
6	24579869	A	G	A24579869G	KIAA0319	NM_014809.4(KIAA0319):c.1361T>C:p.Ile454Thr	coding	Benign
6	24595884	A	T	A24595884T	KIAA0319	NM_014809.4(KIAA0319):c.790T>A:p.Ser264Thr	coding	Benign
6	24596308	G	A	G24596308A	KIAA0319	NM_014809.4(KIAA0319):c.366C>T:p.Asn122=	coding	Benign
6	24650958	T	C	T24650958C	TDP2	NM_016614.3(TDP2):c.919A>G:p.Ile307Val	coding	Benign
6	24658560	C	T	C24658560T	TDP2	NM_016614.3(TDP2):c.425+1G>A	noncoding	Pathogenic
6	24658597	G	C	G24658597C	TDP2	NM_016614.3(TDP2):c.389C>G:p.Ser130Ter	coding	Pathogenic
6	24666854	C	T	C24666854T	TDP2	NM_016614.3(TDP2):c.9G>A:p.Leu3=	coding	Benign
6	24666859	C	A	C24666859A	TDP2	NM_016614.3(TDP2):c.4G>T:p.Glu2Ter	coding	Pathogenic
6	24777262	A	T	A24777262T	GMNN	NM_015895.5(GMNN):c.16A>T:p.Lys6Ter	coding	Pathogenic
6	24784139	G	A	G24784139A	GMNN	NM_015895.5(GMNN):c.327G>A:p.Ala109=	coding	Benign
6	24784176	A	G	A24784176G	GMNN	NM_015895.5(GMNN):c.357+7A>G	noncoding	Benign
6	24785777	C	T	C24785777T	GMNN	NM_015895.5(GMNN):c.608C>T:p.Thr203Met	coding	Benign
6	24806366	C	T	C24806366T	RIPOR2	NM_001286445.3(RIPOR2):c.*7G>A	noncoding	Benign
6	24806485	A	G	A24806485G	RIPOR2	NM_001286445.3(RIPOR2):c.3044-12T>C	noncoding	Benign
6	24809708	A	T	A24809708T	RIPOR2	NM_001286445.3(RIPOR2):c.3043+9T>A	noncoding	Benign
6	24818533	G	A	G24818533A	RIPOR2	NM_001286445.3(RIPOR2):c.2952+9C>T	noncoding	Benign/Likely_benign
6	24818557	A	G	A24818557G	RIPOR2	NM_001286445.3(RIPOR2):c.2937T>C:p.Ala979=	coding	Benign
6	24818599	T	C	T24818599C	RIPOR2	NM_001286445.3(RIPOR2):c.2895A>G:p.Leu965=	coding	Benign
6	24825283	A	G	A24825283G	RIPOR2	NM_001286445.3(RIPOR2):c.2811T>C:p.Ser937=	coding	Benign
6	24828221	C	T	C24828221T	RIPOR2	NM_001286445.3(RIPOR2):c.2581G>A:p.Val861Ile	coding	Benign
6	24828262	C	T	C24828262T	RIPOR2	NM_001286445.3(RIPOR2):c.2540G>A:p.Arg847Gln	coding	Benign
6	24828301	C	T	C24828301T	RIPOR2	NM_001286445.3(RIPOR2):c.2507-6G>A	noncoding	Benign
6	24828302	G	A	G24828302A	RIPOR2	NM_001286445.3(RIPOR2):c.2507-7C>T	noncoding	Benign
6	24830452	C	G	C24830452G	RIPOR2	NM_001286445.3(RIPOR2):c.2506+57G>C	noncoding	Benign
6	24830748	C	T	C24830748T	RIPOR2	NM_001286445.3(RIPOR2):c.2345-78G>A	noncoding	Benign
6	24830763	T	C	T24830763C	RIPOR2	NM_001286445.3(RIPOR2):c.2345-93A>G	noncoding	Benign
6	24840758	G	A	G24840758A	RIPOR2	NM_014722.5(RIPOR2):c.1921-1486C>T	coding	Benign
6	24842869	A	C	A24842869C	RIPOR2	NM_001286445.3(RIPOR2):c.1850T>G:p.Ile617Ser	coding	Benign
6	24842946	T	G	T24842946G	RIPOR2	NM_001286445.3(RIPOR2):c.1773A>C:p.Leu591Phe	coding	Benign/Likely_benign
6	24842955	A	G	A24842955G	RIPOR2	NM_001286445.3(RIPOR2):c.1764T>C:p.Asn588=	coding	Benign/Likely_benign
6	24843003	A	G	A24843003G	RIPOR2	NM_001286445.3(RIPOR2):c.1716T>C:p.Ser572=	coding	Benign/Likely_benign
6	24843106	G	A	G24843106A	RIPOR2	NM_001286445.3(RIPOR2):c.1613C>T:p.Ser538Leu	coding	Benign/Likely_benign
6	24843224	G	A	G24843224A	RIPOR2	NM_001286445.3(RIPOR2):c.1495C>T:p.Arg499Cys	coding	Benign
6	24843267	T	C	T24843267C	RIPOR2	NM_001286445.3(RIPOR2):c.1452A>G:p.Pro484=	coding	Benign
6	24843299	C	T	C24843299T	RIPOR2	NM_001286445.3(RIPOR2):c.1420G>A:p.Glu474Lys	coding	Benign
6	24843322	C	T	C24843322T	RIPOR2	NM_001286445.3(RIPOR2):c.1397G>A:p.Arg466Lys	coding	Benign
6	24843427	G	C	G24843427C	RIPOR2	NM_001286445.3(RIPOR2):c.1292C>G:p.Ser431Cys	coding	Benign
6	24843512	C	T	C24843512T	RIPOR2	NM_001286445.3(RIPOR2):c.1207G>A:p.Glu403Lys	coding	Benign
6	24847623	G	C	G24847623C	RIPOR2	NM_001286445.3(RIPOR2):c.1164+402C>G	coding	Benign
6	24848103	T	C	T24848103C	RIPOR2	NM_001286445.3(RIPOR2):c.1086A>G:p.Ala362=	coding	Benign
6	24848117	C	A	C24848117A	RIPOR2	NM_001286445.3(RIPOR2):c.1072G>T:p.Ala358Ser	coding	Benign
6	24848144	C	T	C24848144T	RIPOR2	NM_001286445.3(RIPOR2):c.1045G>A:p.Val349Met	coding	Benign
6	24852523	C	A	C24852523A	RIPOR2	NM_001286445.3(RIPOR2):c.759+52G>T	noncoding	Benign
6	24865431	G	C	G24865431C	RIPOR2	NM_001286445.3(RIPOR2):c.521C>G:p.Ala174Gly	coding	Benign
6	24872936	G	T	G24872936T	RIPOR2	NM_001286445.3(RIPOR2):c.368C>A:p.Thr123Lys	coding	Benign/Likely_benign
6	24873800	C	T	C24873800T	RIPOR2	NM_001286445.3(RIPOR2):c.189-1G>A	coding	Pathogenic
6	24875663	T	A	T24875663A	RIPOR2	NM_001286445.3(RIPOR2):c.188+28A>T	noncoding	Benign
6	24875765	C	G	C24875765G	RIPOR2	NM_001286445.3(RIPOR2):c.114G>C:p.Ser38=	coding	Benign/Likely_benign
6	25041884	A	G	A25041884G	RIPOR2	NM_001286446.2(RIPOR2):c.43T>C:p.Trp15Arg	coding	Benign
6	25798815	C	T	C25798815T	SLC17A1	NM_005074.5(SLC17A1):c.1374G>A:p.Trp458Ter	coding	Benign
6	26026947	G	A	G26026947A	H4C2	NM_003544.3(H4C2):c.306C>T:p.Gly102=	coding	Benign
6	26026974	A	C	A26026974C	H4C2	NM_003544.3(H4C2):c.279T>G:p.Arg93=	coding	Benign
6	26026986	G	A	G26026986A	H4C2	NM_003544.3(H4C2):c.267C>T:p.Tyr89=	coding	Benign
6	26027058	G	A	G26027058A	H4C2	NM_003544.3(H4C2):c.195C>T:p.Asn65=	coding	Benign
6	26027247	A	T	A26027247T	H4C2	NM_003544.3(H4C2):c.6T>A:p.Ser2=	coding	Benign
6	26087393	C	G	C26087393G	HFE	NM_000410.3(HFE):c.-48C>G	noncoding	Benign
6	26090921	G	A	G26090921A	HFE	NM_139007.3(HFE):c.77-393G>A	coding	Benign
6	26090953	T	C	T26090953C	HFE	NM_000410.3(HFE):c.189T>C:p.His63=	coding	Benign/Likely_benign
6	26091041	G	C	G26091041C	HFE	NM_139007.3(HFE):c.77-273G>C	coding	Pathogenic
6	26091078	T	C	T26091078C	HFE	NM_139007.3(HFE):c.77-236T>C	coding	Pathogenic
6	26091108	T	C	T26091108C	HFE	NM_000410.3(HFE):c.340+4T>C	noncoding	Benign/Likely_benign
6	26091354	A	C	A26091354C	HFE	NM_139003.3(HFE):c.340+250A>C	coding	Pathogenic
6	26091475	G	T	G26091475T	HFE	NM_000410.3(HFE):c.502G>T:p.Glu168Ter	coding	Pathogenic
6	26091479	G	A	G26091479A	HFE	NM_000410.3(HFE):c.506G>A:p.Trp169Ter	coding	Pathogenic
6	26092916	A	C	A26092916C	HFE	NM_000410.3(HFE):c.848A>C:p.Gln283Pro	coding	Pathogenic
6	26092960	G	T	G26092960T	HFE	NM_000410.3(HFE):c.892G>T:p.Glu298Ter	coding	Pathogenic
6	26093008	G	A	G26093008A	HFE	NM_000410.3(HFE):c.892+48G>A	noncoding	Benign
6	26093215	G	T	G26093215T	HFE	NM_000410.3(HFE):c.989G>T:p.Arg330Met	coding	Pathogenic
6	26104218	C	T	C26104218T	H4C3	NM_003542.4(H4C3):c.271C>T:p.Leu91=	coding	Benign
6	26104221	A	C	A26104221C	H4C3	NM_003542.4(H4C3):c.274A>C:p.Lys92Gln	coding	Pathogenic
6	26156483	C	G	C26156483G	H1-4	NM_005321.3(H1-4):c.93C>G:p.Ala31=	coding	Benign
6	26156558	C	A	C26156558A	H1-4	NM_005321.3(H1-4):c.168C>A:p.Gly56=	coding	Benign
6	26156594	C	A	C26156594A	H1-4	NM_005321.3(H1-4):c.204C>A:p.Ala68=	coding	Benign
6	26156615	G	A	G26156615A	H1-4	NM_005321.3(H1-4):c.225G>A:p.Lys75=	coding	Benign
6	26156762	C	T	C26156762T	H1-4	NM_005321.3(H1-4):c.372C>T:p.Gly124=	coding	Benign
6	26156765	G	T	G26156765T	H1-4	NM_005321.3(H1-4):c.375G>T:p.Ala125=	coding	Benign
6	26156845	A	G	A26156845G	H1-4	NM_005321.3(H1-4):c.455A>G:p.Lys152Arg	coding	Benign
6	26157035	A	T	A26157035T	H1-4	NM_005321.3(H1-4):c.645A>T:p.Ala215=	coding	Benign
6	26240671	C	T	C26240671T	H4C6	NM_003540.4(H4C6):c.246C>T:p.Val82=	coding	Benign
6	26368710	C	T	C26368710T	BTN3A2	NM_007047.5(BTN3A2):c.231C>T:p.Asn77=	coding	Benign
6	26374343	G	A	G26374343A	BTN3A2	NM_007047.5(BTN3A2):c.981G>A:p.Ser327=	coding	Benign
6	26383832	C	T	C26383832T	BTN2A2	NM_006995.5(BTN2A2):c.11C>T:p.Ala4Val	coding	Benign
6	26385035	C	G	C26385035G	BTN2A2	NM_006995.5(BTN2A2):c.115C>G:p.Pro39Ala	coding	Benign
6	26390079	T	G	T26390079G	BTN2A2	NM_006995.5(BTN2A2):c.799T>G:p.Ser267Ala	coding	Benign
6	26392677	C	T	C26392677T	BTN2A2	NM_006995.5(BTN2A2):c.1282C>T:p.Arg428Trp	coding	Benign
6	26392830	C	T	C26392830T	BTN2A2	NM_006995.5(BTN2A2):c.1435C>T:p.Pro479Ser	coding	Benign
6	26392933	A	C	A26392933C	BTN2A2	NM_006995.5(BTN2A2):c.1538A>C:p.Lys513Thr	coding	Benign
6	26413677	T	C	T26413677C	BTN3A1	NM_007048.6(BTN3A1):c.1527T>C:p.Thr509=	coding	Benign
6	26467973	C	T	C26467973T	BTN2A1	NM_007049.5(BTN2A1):c.1008C>T:p.Thr336=	coding	Benign
6	26507966	A	C	A26507966C	BTN1A1	NM_001732.3(BTN1A1):c.876A>C:p.Glu292Asp	coding	Benign
6	26508062	A	G	A26508062G	BTN1A1	NM_001732.3(BTN1A1):c.882A>G:p.Lys294=	coding	Benign
6	26509164	G	A	G26509164A	BTN1A1	NM_001732.3(BTN1A1):c.1571G>A:p.Gly524Glu	coding	Benign
6	27139614	C	T	C27139614T	H4C9	NM_003495.3(H4C9):c.306C>T:p.Gly102=	coding	Benign
6	27451555	C	T	C27451555T	ZNF184	NM_001318891.1(ZNF184):c.2004G>A:p.Lys668=	coding	Benign
6	28300890	G	A	G28300890A	PGBD1	NM_032507.3(PGBD1):c.1036G>A:p.Asp346Asn	coding	Benign
6	28302092	T	C	T28302092C	PGBD1	NM_032507.3(PGBD1):c.2238T>C:p.Ile746=	coding	Benign
6	28504476	T	C	T28504476C	GPX6	NM_182701.1(GPX6):c.482A>G:p.Asp161Gly	coding	Benign
6	28510835	A	G	A28510835G	GPX6	NM_182701.1(GPX6):c.157T>C:p.Tyr53His	coding	Benign
6	29440944	T	G	T29440944G	OR10C1	NM_013941.3(OR10C1):c.929T>G:p.Met310Arg	coding	Benign
6	29613405	C	T	C29613405T	GABBR1	NM_001470.4(GABBR1):c.1404G>A:p.Pro468=	coding	Benign
6	29621770	G	A	G29621770A	GABBR1	NM_001470.4(GABBR1):c.1113C>T:p.Ala371=	coding	Benign
6	29623323	G	C	G29623323C	GABBR1	NM_001470.4(GABBR1):c.945C>G:p.Thr315=	coding	Benign
6	29659628	C	G	C29659628G	MOG	NM_206809.4(MOG):c.398C>G:p.Ser133Cys	coding	Pathogenic
6	29672739	G	C	G29672739C	ZFP57	NM_001109809.4(ZFP57):c.1372C>G:p.His458Asp	coding	Pathogenic
6	29673008	T	A	T29673008A	ZFP57	NM_001109809.4(ZFP57):c.1103A>T:p.Asp368Val	coding	Benign
6	29673025	A	G	A29673025G	ZFP57	NM_001109809.4(ZFP57):c.1086T>C:p.Thr362=	coding	Benign/Likely_benign
6	29673174	T	C	T29673174C	ZFP57	NM_001109809.5(ZFP57):c.937A>G:p.Arg313Gly	coding	Benign
6	29673282	G	T	G29673282T	ZFP57	NM_001109809.4(ZFP57):c.829C>A:p.His277Asn	coding	Pathogenic
6	29673328	G	A	G29673328A	ZFP57	NM_001109809.4(ZFP57):c.783C>T:p.Cys261=	coding	Benign
6	29673328	G	T	G29673328T	ZFP57	NM_001109809.2(ZFP57):c.783C>A:p.Cys261Ter	coding	Pathogenic
6	29673368	C	T	C29673368T	ZFP57	NM_001109809.4(ZFP57):c.743G>A:p.Arg248His	coding	Pathogenic
6	29673518	T	C	T29673518C	ZFP57	NM_001109809.4(ZFP57):c.593A>G:p.Asn198Ser	coding	Benign
6	29673552	G	A	G29673552A	ZFP57	NM_001109809.4(ZFP57):c.559C>T:p.Arg187Cys	coding	Benign
6	29673620	C	T	C29673620T	ZFP57	NM_001109809.4(ZFP57):c.491G>A:p.Arg164Gln	coding	Benign/Likely_benign
6	29673737	C	T	C29673737T	ZFP57	NM_001109809.4(ZFP57):c.374G>A:p.Arg125Gln	coding	Benign
6	29676892	G	A	G29676892A	ZFP57	NM_001109809.4(ZFP57):c.112C>T:p.Arg38Trp	coding	Benign
6	29828150	G	A	G29828150A	HLA-G	NM_002127.5(HLA-G):c.177G>A:p.Arg59=	coding	Benign
6	29828210	G	A	G29828210A	HLA-G	NM_002127.5(HLA-G):c.237G>A:p.Glu79=	coding	Benign
6	29828571	C	T	C29828571T	HLA-G	NM_002127.5(HLA-G):c.372C>T:p.Gly124=	coding	Benign
6	29943307	G	A	G29943307A	HLA-A	NM_002116.8(HLA-A):c.383G>A:p.Gly128Glu	coding	Benign
6	29944160	G	C	G29944160C	HLA-A	NM_002116.8(HLA-A):c.658G>C:p.Asp220His	coding	Benign
6	30103770	C	T	C30103770T	TRIM31	NM_007028.5(TRIM31):c.1044G>A:p.Gly348=	coding	Benign
6	30110458	T	C	T30110458C	TRIM31	NM_007028.5(TRIM31):c.734A>G:p.Gln245Arg	coding	Benign
6	30110488	A	G	A30110488G	TRIM31	NM_007028.5(TRIM31):c.704T>C:p.Leu235Pro	coding	Benign
6	30112427	T	C	T30112427C	TRIM31	NM_007028.5(TRIM31):c.379A>G:p.Asn127Asp	coding	Benign
6	30112503	C	T	C30112503T	TRIM31	NM_007028.5(TRIM31):c.303G>A:p.Met101Ile	coding	Benign
6	30112592	G	A	G30112592A	TRIM31	NM_007028.5(TRIM31):c.214C>T:p.Arg72Trp	coding	Benign
6	30112756	G	C	G30112756C	TRIM31	NM_007028.5(TRIM31):c.50C>G:p.Pro17Arg	coding	Benign
6	30112788	A	C	A30112788C	TRIM31	NM_007028.5(TRIM31):c.18T>G:p.Phe6Leu	coding	Benign
6	30147543	G	T	G30147543T	TRIM40	NM_001286633.2(TRIM40):c.689+1G>T	coding	Benign
6	30159194	G	C	G30159194C	TRIM10	NM_006778.4(TRIM10):c.481C>G:p.Gln161Glu	coding	Benign
6	30584276	G	A	G30584276A	ABCF1	NM_001025091.2(ABCF1):c.1187G>A:p.Arg396Gln	coding	Benign
6	30586216	C	T	C30586216T	ABCF1	NM_001025091.2(ABCF1):c.1796C>T:p.Pro599Leu	coding	Benign
6	30606246	G	A	G30606246A	PPP1R10	NM_002714.4(PPP1R10):c.635-3C>T	noncoding	Benign
6	30608824	T	C	T30608824C	PPP1R10	NM_002714.4(PPP1R10):c.285A>G:p.Leu95=	coding	Benign
6	30654817	C	G	C30654817G	DHX16	NM_003587.5(DHX16):c.2886G>C:p.Val962=	coding	Benign
6	30657009	C	A	C30657009A	DHX16	NM_003587.5(DHX16):c.2091G>T:p.Gln697His	coding	Pathogenic/Likely_pathogenic
6	30657079	G	A	G30657079A	DHX16	NM_003587.5(DHX16):c.2021C>T:p.Thr674Met	coding	Pathogenic/Likely_pathogenic
6	30660043	A	T	A30660043T	DHX16	NM_003587.5(DHX16):c.1744T>A:p.Phe582Ile	coding	Pathogenic/Likely_pathogenic
6	30664838	C	T	C30664838T	DHX16	NM_003587.5(DHX16):c.1280G>A:p.Gly427Glu	coding	Pathogenic/Likely_pathogenic
6	30665142	T	C	T30665142C	DHX16	NM_003587.5(DHX16):c.1054A>G:p.Lys352Glu	coding	Benign
6	30671054	T	A	T30671054A	DHX16	NM_003587.5(DHX16):c.428A>T:p.Lys143Ile	coding	Benign
6	30677273	C	T	C30677273T	PPP1R18	NM_133471.4(PPP1R18):c.1838G>A:p.Arg613Gln	coding	Benign
6	30684952	G	A	G30684952A	PPP1R18	NM_133471.4(PPP1R18):c.1067C>T:p.Pro356Leu	coding	Benign
6	30685631	G	A	G30685631A	PPP1R18	NM_133471.4(PPP1R18):c.388C>T:p.Arg130Trp	coding	Benign
6	30703429	T	C	T30703429C	MDC1	NM_014641.3(MDC1):c.5671A>G:p.Thr1891Ala	coding	Benign
6	30705355	G	A	G30705355A	MDC1	NM_014641.3(MDC1):c.3828C>T:p.Ser1276=	coding	Benign
6	30705511	G	T	G30705511T	MDC1	NM_014641.3(MDC1):c.3672C>A:p.Thr1224=	coding	Benign
6	30705574	C	G	C30705574G	MDC1	NM_014641.3(MDC1):c.3609G>C:p.Val1203=	coding	Benign
6	30705582	T	G	T30705582G	MDC1	NM_014641.3(MDC1):c.3601A>C:p.Thr1201Pro	coding	Benign
6	30712186	A	C	A30712186C	MDC1	NM_014641.3(MDC1):c.1756T>G:p.Ser586Ala	coding	Benign
6	30712862	A	G	A30712862G	MDC1	NM_014641.3(MDC1):c.1080T>C:p.Gly360=	coding	Benign
6	30713191	C	T	C30713191T	MDC1	NM_014641.3(MDC1):c.751G>A:p.Glu251Lys	coding	Benign
6	30715095	G	A	G30715095A	MDC1	NM_014641.3(MDC1):c.81C>T:p.Asn27=	coding	Benign
6	30720549	C	A	C30720549A	TUBB	NM_178014.4(TUBB):c.43C>A:p.Gln15Lys	coding	Pathogenic
6	30723039	C	T	C30723039T	TUBB	NM_178014.4(TUBB):c.277+11C>T	noncoding	Benign
6	30723713	G	A	G30723713A	TUBB	NM_178014.4(TUBB):c.651G>A:p.Leu217=	coding	Benign
6	30723724	C	T	C30723724T	TUBB	NM_178014.4(TUBB):c.662C>T:p.Thr221Ile	coding	Pathogenic
6	30723727	A	T	A30723727T	TUBB	NM_178014.4(TUBB):c.665A>T:p.Tyr222Phe	coding	Pathogenic
6	30723957	A	G	A30723957G	TUBB	NM_178014.4(TUBB):c.895A>G:p.Met299Val	coding	Pathogenic
6	30724119	G	A	G30724119A	TUBB	NM_178014.4(TUBB):c.1057G>A:p.Val353Ile	coding	Pathogenic
6	30724263	G	A	G30724263A	TUBB	NM_178014.4(TUBB):c.1201G>A:p.Glu401Lys	coding	Pathogenic
6	30724323	G	A	G30724323A	TUBB	NM_178014.4(TUBB):c.1261G>A:p.Glu421Lys	coding	Pathogenic
6	30897595	C	T	C30897595T	DDR1	NM_013994.2(DDR1):c.2232C>T:p.Ile744=	coding	Benign
6	30912434	C	T	C30912434T	GTF2H4	NM_001517.5(GTF2H4):c.1065C>T:p.Ile355=	coding	Benign
6	30914426	T	C	T30914426C	VARS2	NM_001167734.1(VARS2):c.15T>C:p.Ala5=	coding	Benign
6	30914638	C	T	C30914638T	VARS2	NM_001167734.1(VARS2):c.59-167C>T	noncoding	Benign
6	30914654	C	T	C30914654T	VARS2	NM_001167734.1(VARS2):c.59-151C>T	noncoding	Benign
6	30914857	C	T	C30914857T	VARS2	NM_001167734.1(VARS2):c.111C>T:p.Ala37=	coding	Benign
6	30914912	C	T	C30914912T	VARS2	NM_001167734.1(VARS2):c.166C>T:p.His56Tyr	coding	Benign
6	30915004	G	T	G30915004T	VARS2	NM_001167734.1(VARS2):c.258G>T:p.Ala86=	coding	Benign
6	30915026	G	A	G30915026A	VARS2	NM_001167734.1(VARS2):c.280G>A:p.Gly94Arg	coding	Benign
6	30915784	G	A	G30915784A	VARS2	NM_001167734.1(VARS2):c.513G>A:p.Met171Ile	coding	Benign/Likely_benign
6	30916143	C	T	C30916143T	VARS2	NM_001167734.1(VARS2):c.664-9C>T	noncoding	Benign
6	30916478	A	T	A30916478T	VARS2	NM_001167734.1(VARS2):c.761+229A>T	noncoding	Benign
6	30916659	A	G	A30916659G	VARS2	NM_001167734.1(VARS2):c.762-219A>G	noncoding	Benign
6	30918044	G	A	G30918044A	VARS2	NM_001167734.1(VARS2):c.1075+238G>A	noncoding	Benign
6	30918573	C	G	C30918573G	VARS2	NM_001167734.1(VARS2):c.1076-254C>G	noncoding	Benign
6	30918851	C	T	C30918851T	VARS2	NM_001167734.1(VARS2):c.1100C>T:p.Thr367Ile	coding	Pathogenic
6	30918886	G	A	G30918886A	VARS2	NM_020442.5(VARS2):c.1045G>A:p.Ala349Thr	coding	Pathogenic
6	30918901	G	A	G30918901A	VARS2	NM_020442.6(VARS2):c.1060G>A:p.Asp354Asn	coding	Pathogenic
6	30918952	C	T	C30918952T	VARS2	NM_001167734.1(VARS2):c.1164+37C>T	noncoding	Benign
6	30919150	G	C	G30919150C	VARS2	NM_001167734.1(VARS2):c.1164+235G>C	noncoding	Benign
6	30919534	C	T	C30919534T	VARS2	NM_001167734.1(VARS2):c.1165-224C>T	noncoding	Benign
6	30919567	T	C	T30919567C	VARS2	NM_001167734.1(VARS2):c.1165-191T>C	noncoding	Benign
6	30920195	C	T	C30920195T	VARS2	NM_001167734.1(VARS2):c.1362C>T:p.Ser454=	coding	Benign
6	30920211	C	T	C30920211T	VARS2	NM_001167734.1(VARS2):c.1378C>T:p.Leu460=	coding	Benign
6	30920384	T	C	T30920384C	VARS2	NM_001167734.1(VARS2):c.1435T>C:p.Trp479Arg	coding	Benign
6	30920392	G	A	G30920392A	VARS2	NM_001167734.1(VARS2):c.1443G>A:p.Leu481=	coding	Benign
6	30920670	G	A	G30920670A	VARS2	NM_020442.6(VARS2):c.1400G>A:p.Arg467His	coding	Pathogenic
6	30920726	G	T	G30920726T	VARS2	NM_020442.6(VARS2):c.1456G>T:p.Glu486Ter	coding	Pathogenic
6	30921056	T	C	T30921056C	VARS2	NM_001167734.1(VARS2):c.1570-9T>C	noncoding	Benign
6	30921099	C	T	C30921099T	VARS2	NM_001167734.1(VARS2):c.1604C>T:p.Ser535Phe	coding	Benign/Likely_benign
6	30921612	T	C	T30921612C	VARS2	NM_001167734.1(VARS2):c.1746T>C:p.Val582=	coding	Benign
6	30921626	C	A	C30921626A	VARS2	NM_001167734.1(VARS2):c.1760C>A:p.Ala587Asp	coding	Benign
6	30921976	C	A	C30921976A	VARS2	NM_020442.5(VARS2):c.1787C>A:p.Ala596Asp	coding	Pathogenic
6	30922706	G	T	G30922706T	VARS2	NM_001167734.1(VARS2):c.2128G>T:p.Val710Leu	coding	Benign
6	30922792	G	T	G30922792T	VARS2	NM_001167734.1(VARS2):c.2196+18G>T	noncoding	Benign
6	30922940	G	A	G30922940A	VARS2	NM_020442.6(VARS2):c.2149G>A:p.Ala717Thr	coding	Pathogenic
6	30923094	T	C	T30923094C	VARS2	NM_001167734.1(VARS2):c.2276-10T>C	noncoding	Benign
6	30923367	C	T	C30923367T	VARS2	NM_001167734.1(VARS2):c.2418C>T:p.Ser806=	coding	Benign
6	30923451	C	T	C30923451T	VARS2	NM_001167734.1(VARS2):c.2502C>T:p.Leu834=	coding	Benign
6	30923673	G	C	G30923673C	VARS2	NM_001167734.1(VARS2):c.2556+168G>C	noncoding	Benign
6	30924335	C	T	C30924335T	VARS2	NM_001167734.1(VARS2):c.2557-19C>T	noncoding	Benign
6	30924352	A	G	A30924352G	VARS2	NM_020442.6(VARS2):c.2467-2A>G	noncoding	Pathogenic
6	30924465	C	T	C30924465T	VARS2	NM_001167734.1(VARS2):c.2668C>T:p.Leu890=	coding	Benign
6	30924545	C	T	C30924545T	VARS2	NM_001167734.1(VARS2):c.2748C>T:p.Pro916=	coding	Benign
6	30924744	G	A	G30924744A	VARS2	NM_001167734.1(VARS2):c.2763+184G>A	noncoding	Benign
6	30924815	G	C	G30924815C	VARS2	NM_001167734.1(VARS2):c.2763+255G>C	noncoding	Benign
6	30925350	G	A	G30925350A	VARS2	NM_001167734.1(VARS2):c.2840G>A:p.Arg947Gln	coding	Benign
6	30925651	G	A	G30925651A	VARS2	NM_001167734.1(VARS2):c.2983G>A:p.Ala995Thr	coding	Benign
6	30925951	C	T	C30925951T	VARS2	NM_001167734.1(VARS2):c.3123C>T:p.Asp1041=	coding	Benign
6	30926164	G	A	G30926164A	VARS2	NM_001167734.1(VARS2):c.3236G>A:p.Arg1079Gln	coding	Benign
6	30948868	G	A	G30948868A	MUCL3	NM_080870.4(MUCL3):c.404G>A:p.Arg135Gln	coding	Benign
6	30951280	G	A	G30951280A	MUCL3	NM_080870.4(MUCL3):c.2816G>A:p.Arg939Gln	coding	Benign
6	30952069	C	A	C30952069A	MUCL3	NM_080870.4(MUCL3):c.3605C>A:p.Thr1202Lys	coding	Benign
6	31116090	G	A	G31116090A	CDSN	NM_001264.5(CDSN):c.1525C>T:p.Leu509=	coding	Benign
6	31116168	C	T	C31116168T	CDSN	NM_001264.5(CDSN):c.1447G>A:p.Ala483Thr	coding	Benign/Likely_benign
6	31116202	G	A	G31116202A	CDSN	NM_001264.5(CDSN):c.1413C>T:p.Pro471=	coding	Benign
6	31116257	C	T	C31116257T	CDSN	NM_001264.5(CDSN):c.1358G>A:p.Ser453Asn	coding	Benign
6	31116313	G	T	G31116313T	CDSN	NM_001264.5(CDSN):c.1302C>A:p.Ser434Arg	coding	Benign
6	31116467	C	T	C31116467T	CDSN	NM_001264.5(CDSN):c.1148G>A:p.Gly383Asp	coding	Benign
6	31116556	G	A	G31116556A	CDSN	NM_001264.5(CDSN):c.1059C>T:p.Ser353=	coding	Benign
6	31116972	G	A	G31116972A	CDSN	NM_001264.5(CDSN):c.643C>T:p.Gln215Ter	coding	Pathogenic
6	31117017	G	A	G31117017A	CDSN	NM_001264.5(CDSN):c.598C>T:p.Gln200Ter	coding	Pathogenic
6	31117159	G	C	G31117159C	CDSN	NM_001264.5(CDSN):c.456C>G:p.Ser152Arg	coding	Benign
6	31117164	T	A	T31117164A	CDSN	NM_001264.5(CDSN):c.451A>T:p.Ser151Cys	coding	Benign
6	31117191	C	A	C31117191A	CDSN	NM_001264.5(CDSN):c.424G>T:p.Gly142Ter	coding	Pathogenic
6	31117359	C	T	C31117359T	CDSN	NM_001264.5(CDSN):c.256G>A:p.Gly86Ser	coding	Benign
6	31117440	T	A	T31117440A	CDSN	NM_001264.5(CDSN):c.175A>T:p.Lys59Ter	coding	Pathogenic
6	31138211	C	T	C31138211T	PSORS1C2	NM_014069.3(PSORS1C2):c.151G>A:p.Gly51Ser	coding	Benign
6	31138646	T	C	T31138646C	PSORS1C1	NM_014068.3(PSORS1C1):c.44-10T>C	noncoding	Benign
6	31138746	G	A	G31138746A	PSORS1C1	NM_014068.3(PSORS1C1):c.134G>A:p.Arg45Gln	coding	Benign
6	31139645	G	T	G31139645T	PSORS1C1	NM_014068.3(PSORS1C1):c.172G>T:p.Ala58Ser	coding	Benign
6	31139670	C	G	C31139670G	PSORS1C1	NM_014068.3(PSORS1C1):c.197C>G:p.Ser66Cys	coding	Benign
6	31154630	G	A	G31154630A	CCHCR1	NM_001105564.1(CCHCR1):c.667C>T:p.Arg223Trp	coding	Benign
6	31161765	G	A	G31161765A	TCF19	NM_007109.3(TCF19):c.557G>A:p.Arg186Gln	coding	Benign
6	31355138	G	A	G31355138A	HLA-B	NM_005514.8(HLA-B):c.981C>T:p.Val327=	coding	Benign
6	31412040	T	C	T31412040C	MICA	NM_001177519.3(MICA):c.707T>C:p.Ile236Thr	coding	Benign
6	31412063	G	C	G31412063C	MICA	NM_001177519.3(MICA):c.730G>C:p.Val244Leu	coding	Benign
6	31412154	G	A	G31412154A	MICA	NM_001177519.3(MICA):c.821G>A:p.Arg274Gln	coding	Benign
6	31498259	C	T	C31498259T	MICB	NM_005931.5(MICB):c.66C>T:p.Ala22=	coding	Benign
6	31531137	T	C	T31531137C	DDX39B	NM_004640.7(DDX39B):c.1038A>G:p.Leu346=	coding	Benign
6	31536689	G	A	G31536689A	DDX39B	NM_004640.7(DDX39B):c.433-6C>T	noncoding	Benign
6	31539278	A	G	A31539278G	DDX39B	NM_004640.7(DDX39B):c.212-4T>C	noncoding	Benign
6	31575828	G	T	G31575828T	TNF	NM_000594.4(TNF):c.87G>T:p.Arg29=	coding	Benign
6	31576785	C	T	C31576785T	TNF	NM_000594.4(TNF):c.251C>T:p.Pro84Leu	coding	Benign
6	31577157	C	T	C31577157T	TNF	NM_000594.4(TNF):c.322C>T:p.Arg108Trp	coding	Pathogenic
6	31581079	G	A	G31581079A	LTB	NM_002341.2(LTB):c.365C>T:p.Ala122Val	coding	Benign
6	31581580	G	A	G31581580A	LTB	NM_002341.2(LTB):c.259C>T:p.Leu87Phe	coding	Benign
6	31639644	C	T	C31639644T	BAG6	NM_001199697.1(BAG6):c.2617-418G>A	coding	Benign
6	31645010	C	T	C31645010T	BAG6	NM_080702.3(BAG6):c.1305G>A:p.Pro435=	coding	Benign
6	31649373	G	A	G31649373A	BAG6	NM_080702.3(BAG6):c.249C>T:p.His83=	coding	Benign
6	31651758	C	T	C31651758T	BAG6	NM_080702.3(BAG6):c.6G>A:p.Glu2=	coding	Benign
6	31666867	G	A	G31666867A	CSNK2B	NM_001320.6(CSNK2B):c.36G>A:p.Trp12Ter	coding	Pathogenic
6	31666904	G	A	G31666904A	CSNK2B	NM_001320.7(CSNK2B):c.72+1G>A	coding	Pathogenic
6	31667903	T	A	T31667903A	CSNK2B	NM_001320.7(CSNK2B):c.108T>A:p.Leu36=	coding	Benign
6	31667972	T	G	T31667972G	CSNK2B	NM_001320.7(CSNK2B):c.175+2T>G	noncoding	Pathogenic
6	31668608	T	A	T31668608A	CSNK2B	NM_001320.7(CSNK2B):c.245T>A:p.Leu82Ter	coding	Pathogenic
6	31669174	T	C	T31669174C	CSNK2B	NM_001320.7(CSNK2B):c.367+2T>C	noncoding	Pathogenic
6	31669317	A	G	A31669317G	CSNK2B	NM_001320.7(CSNK2B):c.368-2A>G	noncoding	Pathogenic
6	31669838	T	C	T31669838C	CSNK2B	NM_001320.7(CSNK2B):c.560T>C:p.Leu187Pro	coding	Pathogenic
6	31671193	C	T	C31671193T	LY6G5B	NM_021221.2(LY6G5B):c.96C>T:p.Leu32=	coding	Benign
6	31707506	C	A	C31707506A	LY6G6F	NM_001003693.3(LY6G6F):c.101C>A:p.Pro34Gln	coding	Benign
6	31719250	G	C	G31719250C	LY6G6C	NM_025261.3(LY6G6C):c.224C>G:p.Ala75Gly	coding	Benign
6	31723901	C	A	C31723901A	MPIG6B	NM_025260.3(MPIG6B):c.324C>A:p.Cys108Ter	coding	Pathogenic
6	31724609	C	T	C31724609T	MPIG6B	NM_138272.2(MPIG6B):c.523C>T:p.Arg175Ter	coding	Pathogenic
6	31724618	C	T	C31724618T	MPIG6B	NM_138272.2(MPIG6B):c.532C>T:p.Pro178Ser	coding	Benign
6	31728636	C	G	C31728636G	DDAH2	NM_001303007.2(DDAH2):c.397+10G>C	noncoding	Benign
6	31729151	G	C	G31729151C	DDAH2	NM_001303007.2(DDAH2):c.11C>G:p.Pro4Arg	coding	Benign
6	31740551	C	T	C31740551T	MSH5	NM_002441.4(MSH5):c.85C>T:p.Pro29Ser	coding	Benign
6	31742911	G	A	G31742911A	MSH5	NM_172166.4(MSH5):c.306G>A:p.Thr102=	coding	Benign
6	31759476	G	T	G31759476T	MSH5	NM_002441.4(MSH5):c.1459G>T:p.Asp487Tyr	coding	Pathogenic
6	31760120	C	T	C31760120T	MSH5	NM_002441.4(MSH5):c.1716C>T:p.Thr572=	coding	Benign
6	31761582	A	G	A31761582G	MSH5	NM_002441.4(MSH5):c.2148A>G:p.Gln716=	coding	Benign
6	31764104	C	T	C31764104T	MSH5	NM_172165.3(MSH5):c.*1573C>T	coding	Benign
6	31779234	G	A	G31779234A	VARS1	NM_006295.3(VARS1):c.3459C>T:p.Tyr1153=	coding	Benign
6	31779492	C	A	C31779492A	VARS1	NM_006295.3(VARS1):c.3333G>T:p.Ala1111=	coding	Benign
6	31779704	C	T	C31779704T	VARS1	NM_006295.3(VARS1):c.3192G>A:p.Met1064Ile	coding	Pathogenic
6	31779733	C	T	C31779733T	VARS1	NM_006295.3(VARS1):c.3163G>A:p.Val1055Ile	coding	Benign
6	31779778	C	T	C31779778T	VARS1	NM_006295.3(VARS1):c.3118G>A:p.Val1040Met	coding	Benign
6	31780056	G	A	G31780056A	VARS1	NM_006295.3(VARS1):c.3023C>T:p.Pro1008Leu	coding	Benign
6	31780541	C	T	C31780541T	VARS1	NM_006295.3(VARS1):c.2825G>A:p.Arg942Gln	coding	Pathogenic
6	31781561	C	T	C31781561T	VARS1	NM_006295.3(VARS1):c.2464G>A:p.Gly822Ser	coding	Pathogenic
6	31782361	C	G	C31782361G	VARS1	NM_006295.3(VARS1):c.2074G>C:p.Ala692Pro	coding	Pathogenic
6	31782362	G	A	G31782362A	VARS1	NM_006295.3(VARS1):c.2073C>T:p.Ala691=	coding	Benign
6	31782732	G	A	G31782732A	VARS1	NM_006295.3(VARS1):c.1876C>T:p.Pro626Ser	coding	Benign
6	31783115	C	T	C31783115T	VARS1	NM_006295.3(VARS1):c.1743G>A:p.Val581=	coding	Benign
6	31784310	T	C	T31784310C	VARS1	NM_006295.3(VARS1):c.1577-2A>G	noncoding	Pathogenic
6	31784649	A	G	A31784649G	VARS1	NM_006295.3(VARS1):c.1413T>C:p.Ser471=	coding	Benign
6	31785269	G	A	G31785269A	VARS1	NM_006295.3(VARS1):c.1324C>T:p.Arg442Ter	coding	Pathogenic
6	31785293	G	C	G31785293C	VARS1	NM_006295.3(VARS1):c.1300C>G:p.Leu434Val	coding	Pathogenic
6	31791642	G	C	G31791642C	VARS1	NM_006295.3(VARS1):c.1068C>G:p.Leu356=	coding	Benign
6	31792230	G	A	G31792230A	VARS1	NM_006295.3(VARS1):c.858C>T:p.Pro286=	coding	Benign
6	31792512	G	A	G31792512A	VARS1	NM_006295.3(VARS1):c.666C>T:p.Pro222=	coding	Benign
6	31792876	C	T	C31792876T	VARS1	NM_006295.3(VARS1):c.542G>A:p.Arg181His	coding	Benign
6	31792877	G	A	G31792877A	VARS1	NM_006295.3(VARS1):c.541C>T:p.Arg181Cys	coding	Benign
6	31793006	A	G	A31793006G	VARS1	NM_006295.3(VARS1):c.502T>C:p.Leu168=	coding	Benign
6	31795037	C	A	C31795037A	VARS1	NM_006295.3(VARS1):c.181G>T:p.Glu61Ter	coding	Pathogenic
6	31810530	G	A	G31810530A	HSPA1L	NM_005527.4(HSPA1L):c.1443C>T:p.Asp481=	coding	Benign
6	31810537	G	A	G31810537A	HSPA1L	NM_005527.4(HSPA1L):c.1436C>T:p.Thr479Met	coding	Benign
6	31810545	G	A	G31810545A	HSPA1L	NM_005527.4(HSPA1L):c.1428C>T:p.Ile476=	coding	Benign
6	31811553	A	G	A31811553G	HSPA1L	NM_005527.4(HSPA1L):c.420T>C:p.Pro140=	coding	Benign
6	31859138	C	T	C31859138T	NEU1	NM_000434.4(NEU1):c.*581G>A	noncoding	Benign
6	31859509	A	T	A31859509T	NEU1	NM_000434.4(NEU1):c.*210T>A	noncoding	Benign
6	31859728	C	T	C31859728T	NEU1	NM_000434.4(NEU1):c.1239G>A:p.Gly413=	coding	Benign
6	31859797	G	C	G31859797C	NEU1	NM_000434.4(NEU1):c.1170C>G:p.Tyr390Ter	coding	Pathogenic
6	31859838	C	A	C31859838A	NEU1	NM_000434.4(NEU1):c.1129G>T:p.Glu377Ter	coding	Pathogenic
6	31859879	A	G	A31859879G	NEU1	NM_000434.4(NEU1):c.1088T>C:p.Leu363Pro	coding	Pathogenic
6	31859927	C	T	C31859927T	NEU1	NM_000434.4(NEU1):c.1040G>A:p.Arg347Gln	coding	Pathogenic
6	31860041	C	G	C31860041G	NEU1	NM_000434.4(NEU1):c.1021+1G>C	noncoding	Pathogenic
6	31860117	G	A	G31860117A	NEU1	NM_000434.4(NEU1):c.946C>T:p.Pro316Ser	coding	Pathogenic
6	31860194	C	T	C31860194T	NEU1	NM_000434.4(NEU1):c.869G>A:p.Arg290Gln	coding	Pathogenic
6	31860225	G	A	G31860225A	NEU1	NM_000434.4(NEU1):c.838C>T:p.Arg280Ter	coding	Pathogenic/Likely_pathogenic
6	31860239	A	G	A31860239G	NEU1	NM_000434.4(NEU1):c.824T>C:p.Val275Ala	coding	Pathogenic
6	31860510	C	T	C31860510T	NEU1	NM_000434.4(NEU1):c.727G>A:p.Gly243Arg	coding	Pathogenic
6	31860519	A	G	A31860519G	NEU1	NM_000434.4(NEU1):c.718T>C:p.Trp240Arg	coding	Pathogenic
6	31860545	A	T	A31860545T	NEU1	NM_000434.4(NEU1):c.692T>A:p.Leu231His	coding	Pathogenic
6	31860558	C	T	C31860558T	NEU1	NM_000434.4(NEU1):c.679G>A:p.Gly227Arg	coding	Pathogenic
6	31860563	C	G	C31860563G	NEU1	NM_000434.4(NEU1):c.674G>C:p.Arg225Pro	coding	Pathogenic
6	31860588	C	T	C31860588T	NEU1	NM_000434.4(NEU1):c.649G>A:p.Val217Met	coding	Pathogenic/Likely_pathogenic
6	31861259	T	C	T31861259C	NEU1	NM_000434.4(NEU1):c.544A>G:p.Ser182Gly	coding	Pathogenic/Likely_pathogenic
6	31861317	G	A	G31861317A	NEU1	NM_000434.4(NEU1):c.486C>T:p.Ala162=	coding	Benign
6	31861452	T	C	T31861452C	NEU1	NM_000434.4(NEU1):c.353-2A>G	noncoding	Pathogenic
6	31862079	A	C	A31862079C	NEU1	NM_000434.4(NEU1):c.272T>G:p.Leu91Arg	coding	Pathogenic
6	31862088	C	G	C31862088G	NEU1	NM_000434.4(NEU1):c.263G>C:p.Gly88Ala	coding	Benign
6	31862112	G	A	G31862112A	NEU1	NM_000434.4(NEU1):c.239C>T:p.Pro80Leu	coding	Pathogenic
6	31862167	G	A	G31862167A	NEU1	NM_000434.4(NEU1):c.184C>T:p.Gln62Ter	coding	Pathogenic
6	31862191	C	T	C31862191T	NEU1	NM_000434.4(NEU1):c.160G>A:p.Val54Met	coding	Pathogenic
6	31862690	C	T	C31862690T	NEU1	NM_000434.4(NEU1):c.87G>A:p.Trp29Ter	coding	Pathogenic
6	31862708	C	T	C31862708T	NEU1	NM_000434.4(NEU1):c.69G>A:p.Trp23Ter	coding	Pathogenic
6	31862816	A	C	A31862816C	NEU1	NM_000434.4(NEU1):c.-40T>G	noncoding	Benign
6	31869232	G	C	G31869232C	SLC44A4	NM_025257.3(SLC44A4):c.1156C>G:p.Gln386Glu	coding	Benign
6	31874723	T	C	T31874723C	SLC44A4	NM_025257.3(SLC44A4):c.466A>G:p.Met156Val	coding	Pathogenic
6	31874754	C	G	C31874754G	SLC44A4	NM_025257.3(SLC44A4):c.435G>C:p.Arg145Ser	coding	Benign
6	31874758	T	C	T31874758C	SLC44A4	NM_025257.3(SLC44A4):c.431A>G:p.Asn144Ser	coding	Benign
6	31883845	C	T	C31883845T	EHMT2	NM_006709.5(EHMT2):c.2877G>A:p.Thr959=	coding	Benign
6	31887829	C	A	C31887829A	EHMT2	NM_006709.5(EHMT2):c.1878G>T:p.Gly626=	coding	Benign
6	31892479	C	T	C31892479T	EHMT2	NM_006709.5(EHMT2):c.792G>A:p.Thr264=	coding	Benign
6	31892503	G	A	G31892503A	EHMT2	NM_006709.5(EHMT2):c.768C>T:p.Pro256=	coding	Benign
6	31896633	C	T	C31896633T	EHMT2	NM_006709.5(EHMT2):c.301G>A:p.Asp101Asn	coding	Benign
6	31936027	G	C	G31936027C	C2	NM_000063.6(C2):c.954G>C:p.Glu318Asp	coding	Benign/Likely_benign
6	31937353	G	A	G31937353A	C2	NM_000063.6(C2):c.1023G>A:p.Ala341=	coding	Benign
6	31944232	G	C	G31944232C	CFB;C2	NM_000063.6(C2):c.1902+6G>C	noncoding	Benign/Likely_benign
6	31944746	T	C	T31944746C	CFB;C2	NM_000063.6(C2):c.1922T>C:p.Val641Ala	coding	Benign/Likely_benign
6	31944996	A	G	A31944996G	CFB;C2	NM_000063.6(C2):c.2046A>G:p.Ala682=	coding	Benign/Likely_benign
6	31946247	T	A	T31946247A	CFB;C2	NM_001710.6(CFB):c.26T>A:p.Leu9His	coding	Benign/Likely_benign
6	31946402	C	T	C31946402T	CFB;C2	NM_001710.5(CFB):c.94C>T:p.Arg32Trp	coding	Benign
6	31946403	G	A	G31946403A	CFB;C2	NM_001710.5(CFB):c.95G>A:p.Arg32Gln	coding	Benign/Likely_benign
6	31947113	C	T	C31947113T	CFB;C2	NM_001710.5(CFB):c.405C>T:p.Tyr135=	coding	Benign/Likely_benign
6	31947158	A	G	A31947158G	CFB;C2	NM_001710.5(CFB):c.450A>G:p.Arg150=	coding	Benign
6	31947367	G	A	G31947367A	CFB;C2	NM_001710.5(CFB):c.504G>A:p.Pro168=	coding	Benign/Likely_benign
6	31947463	C	T	C31947463T	CFB;C2	NM_001710.5(CFB):c.600C>T:p.Ser200=	coding	Benign/Likely_benign
6	31947755	C	T	C31947755T	CFB;C2	NM_001710.5(CFB):c.672C>T:p.Tyr224=	coding	Benign/Likely_benign
6	31947837	G	A	G31947837A	CFB;C2	NM_001710.5(CFB):c.754G>A:p.Gly252Ser	coding	Benign/Likely_benign
6	31947950	C	T	C31947950T	CFB	NM_001710.5(CFB):c.766C>T:p.Gln256Ter	coding	Pathogenic
6	31948820	C	G	C31948820G	CFB	NM_001710.5(CFB):c.1037-10C>G	noncoding	Benign/Likely_benign
6	31948930	C	T	C31948930T	CFB;C2	NM_001710.5(CFB):c.1137C>T:p.Arg379=	coding	Benign/Likely_benign
6	31949514	C	T	C31949514T	CFB;C2	NM_001710.5(CFB):c.1365C>T:p.Val455=	coding	Benign/Likely_benign
6	31949523	G	A	G31949523A	CFB	NM_001710.6(CFB):c.1374G>A:p.Met458Ile	coding	Pathogenic
6	31950303	C	T	C31950303T	CFB;C2	NM_001710.5(CFB):c.1524C>T:p.His508=	coding	Benign/Likely_benign
6	31950327	G	A	G31950327A	CFB	NM_001710.6(CFB):c.1548G>A:p.Val516=	coding	Benign/Likely_benign
6	31950377	A	G	A31950377G	CFB;C2	NM_001710.6(CFB):c.1598A>G:p.Lys533Arg	coding	Benign/Likely_benign
6	31950687	A	G	A31950687G	CFB	NM_001710.5(CFB):c.1693A>G:p.Lys565Glu	coding	Benign
6	31950691	A	C	A31950691C	CFB	NM_001710.5(CFB):c.1697A>C:p.Glu566Ala	coding	Benign/Likely_benign
6	31950781	G	A	G31950781A	CFB	NM_001710.5(CFB):c.1778+9G>A	noncoding	Benign/Likely_benign
6	31951241	T	G	T31951241G	CFB	NM_001710.6(CFB):c.1953T>G:p.Asp651Glu	coding	Benign
6	31951565	C	T	C31951565T	CFB	NM_001710.5(CFB):c.2100C>T:p.Gly700=	coding	Benign/Likely_benign
6	31952053	C	T	C31952053T	CFB	NM_001710.5(CFB):c.*23C>T	noncoding	Benign
6	31959283	A	T	A31959283T	SKIV2L	NM_006929.5(SKIV2L):c.23-14A>T	noncoding	Benign
6	31960262	C	G	C31960262G	SKIV2L	NM_006929.5(SKIV2L):c.279C>G:p.Val93=	coding	Benign
6	31960461	T	C	T31960461C	SKIV2L	NM_006929.5(SKIV2L):c.384T>C:p.Ala128=	coding	Benign
6	31960529	A	G	A31960529G	SKIV2L	NM_006929.5(SKIV2L):c.452A>G:p.Gln151Arg	coding	Benign
6	31961237	A	C	A31961237C	SKIV2L	NM_006929.5(SKIV2L):c.640A>C:p.Met214Leu	coding	Benign
6	31961338	C	G	C31961338G	SKIV2L	NM_006929.5(SKIV2L):c.741C>G:p.Cys247Trp	coding	Benign
6	31961371	A	G	A31961371G	SKIV2L	NM_006929.5(SKIV2L):c.774A>G:p.Glu258=	coding	Benign
6	31961605	G	A	G31961605A	SKIV2L	NM_006929.5(SKIV2L):c.848G>A:p.Trp283Ter	coding	Pathogenic
6	31961661	C	T	C31961661T	SKIV2L	NM_006929.5(SKIV2L):c.904C>T:p.Gln302Ter	coding	Pathogenic
6	31961960	C	T	C31961960T	SKIV2L	NM_006929.5(SKIV2L):c.970C>T:p.Arg324Trp	coding	Benign/Likely_benign
6	31962031	C	T	C31962031T	SKIV2L	NM_006929.5(SKIV2L):c.1041C>T:p.Ala347=	coding	Benign
6	31962574	A	G	A31962574G	SKIV2L	NM_006929.5(SKIV2L):c.1200A>G:p.Thr400=	coding	Benign
6	31965863	C	T	C31965863T	SKIV2L	NM_006929.5(SKIV2L):c.2052C>T:p.His684=	coding	Benign
6	31966717	G	A	G31966717A	SKIV2L	NM_006929.5(SKIV2L):c.2211G>A:p.Pro737=	coding	Benign
6	31967002	A	G	A31967002G	SKIV2L	NM_006929.5(SKIV2L):c.2341-2A>G	noncoding	Pathogenic
6	31967368	G	A	G31967368A	SKIV2L	NM_006929.5(SKIV2L):c.2574G>A:p.Val858=	coding	Benign
6	31967790	G	A	G31967790A	SKIV2L	NM_006929.5(SKIV2L):c.2659G>A:p.Asp887Asn	coding	Benign
6	31967973	G	A	G31967973A	SKIV2L	NM_006929.5(SKIV2L):c.2749G>A:p.Val917Met	coding	Benign
6	31968679	T	C	T31968679C	SKIV2L	NM_006929.5(SKIV2L):c.3070-7T>C	noncoding	Benign
6	31968891	T	C	T31968891C	SKIV2L	NM_006929.5(SKIV2L):c.3201T>C:p.Tyr1067=	coding	Benign
6	31968902	C	T	C31968902T	SKIV2L	NM_006929.5(SKIV2L):c.3212C>T:p.Ala1071Val	coding	Benign
6	31969734	T	C	T31969734C	SKIV2L	NM_006929.5(SKIV2L):c.*19T>C	noncoding	Benign
6	31970635	G	T	G31970635T	SKIV2L	NM_005510.4(DXO):c.783C>A:p.His261Gln	coding	Benign
6	31970674	T	C	T31970674C	SKIV2L	NM_005510.4(DXO):c.744A>G:p.Pro248=	coding	Benign
6	31984478	G	A	G31984478A	C4A	NM_007293.3(C4A):c.1045+70G>A	noncoding	Benign
6	31991937	C	A	C31991937A	C4A	NM_007293.3(C4A):c.1524+23C>A	noncoding	Benign
6	31995249	T	C	T31995249C	C4A	NM_007293.3(C4A):c.2944+55T>C	noncoding	Benign
6	32001644	C	T	C32001644T	C4A	NM_007293.3(C4A):c.4876+50C>T	noncoding	Benign
6	32002226	G	A	G32002226A	C4A	NM_007293.3(C4A):c.5064G>A:p.Leu1688=	coding	Benign
6	32029189	G	A	G32029189A	C4B	NM_001002029.4(C4B):c.3527G>A:p.Ser1176Asn	coding	Benign
6	32034381	C	T	C32034381T	C4B	NM_001002029.4(C4B):c.4876+50C>T	noncoding	Benign
6	32038419	C	T	C32038419T	CYP21A2	NM_000500.9(CYP21A2):c.-4C>T	noncoding	Benign
6	32038482	G	A	G32038482A	CYP21A2	NM_000500.9(CYP21A2):c.60G>A:p.Trp20Ter	coding	Pathogenic
6	32038514	C	T	C32038514T	CYP21A2	NM_000500.9(CYP21A2):c.92C>T:p.Pro31Leu	coding	Pathogenic
6	32038540	C	T	C32038540T	CYP21A2	NM_000500.9(CYP21A2):c.118C>T:p.Leu40=	coding	Benign
6	32038560	C	A	C32038560A	CYP21A2	NM_000500.9(CYP21A2):c.138C>A:p.Pro46=	coding	Benign
6	32038610	A	T	A32038610T	CYP21A2	NM_000500.9(CYP21A2):c.188A>T:p.His63Leu	coding	Benign
6	32038704	G	C	G32038704C	CYP21A2	NM_000500.9(CYP21A2):c.203-18G>C	noncoding	Benign
6	32038820	C	T	C32038820T	CYP21A2	NM_000500.9(CYP21A2):c.292+9C>T	noncoding	Benign
6	32038920	C	G	C32038920G	CYP21A2	NM_000500.9(CYP21A2):c.292+109C>G	noncoding	Benign
6	32038964	C	T	C32038964T	CYP21A2	NM_000500.9(CYP21A2):c.293-130C>T	noncoding	Benign
6	32038979	C	G	C32038979G	CYP21A2	NM_000500.9(CYP21A2):c.293-115C>G	noncoding	Benign
6	32038998	G	T	G32038998T	CYP21A2	NM_000500.9(CYP21A2):c.293-96G>T	noncoding	Benign
6	32038999	G	C	G32038999C	CYP21A2	NM_000500.9(CYP21A2):c.293-95G>C	noncoding	Benign
6	32039000	T	A	T32039000A	CYP21A2	NM_000500.9(CYP21A2):c.293-94T>A	noncoding	Benign
6	32039003	G	A	G32039003A	CYP21A2	NM_000500.9(CYP21A2):c.293-91G>A	noncoding	Benign
6	32039005	A	G	A32039005G	CYP21A2	NM_000500.9(CYP21A2):c.293-89A>G	noncoding	Benign
6	32039006	G	A	G32039006A	CYP21A2	NM_000500.9(CYP21A2):c.293-88G>A	noncoding	Benign
6	32039014	G	A	G32039014A	CYP21A2	NM_000500.9(CYP21A2):c.293-80G>A	noncoding	Benign
6	32039081	C	G	C32039081G	CYP21A2	NM_000500.9(CYP21A2):c.293-13C>G	noncoding	Pathogenic
6	32039092	A	G	A32039092G	CYP21A2	NM_000500.9(CYP21A2):c.293-2A>G	noncoding	Pathogenic
6	32039109	G	A	G32039109A	CYP21A2	NM_000500.9(CYP21A2):c.308G>A:p.Arg103Lys	coding	Benign
6	32039119	G	C	G32039119C	CYP21A2	NM_000500.9(CYP21A2):c.318G>C:p.Pro106=	coding	Benign
6	32039123	C	T	C32039123T	CYP21A2	NM_000500.9(CYP21A2):c.322C>T:p.Leu108=	coding	Benign
6	32039128	C	G	C32039128G	CYP21A2	NM_000500.9(CYP21A2):c.327C>G:p.Ser109=	coding	Benign/Likely_benign
6	32039143	C	T	C32039143T	CYP21A2	NM_000500.9(CYP21A2):c.342C>T:p.Ser114=	coding	Benign/Likely_benign
6	32039162	A	C	A32039162C	CYP21A2	NM_000500.9(CYP21A2):c.361A>C:p.Lys121Gln	coding	Pathogenic
6	32039183	C	T	C32039183T	CYP21A2	NM_000500.9(CYP21A2):c.382C>T:p.Leu128=	coding	Benign
6	32039206	C	T	C32039206T	CYP21A2	NM_000500.9(CYP21A2):c.405C>T:p.Ser135=	coding	Benign
6	32039286	C	T	C32039286T	CYP21A2	NM_000500.9(CYP21A2):c.447+38C>T	noncoding	Benign
6	32039287	G	A	G32039287A	CYP21A2	NM_000500.9(CYP21A2):c.447+39G>A	noncoding	Benign
6	32039306	G	A	G32039306A	CYP21A2	NM_000500.9(CYP21A2):c.448-50G>A	noncoding	Benign
6	32039353	C	T	C32039353T	CYP21A2	NM_000500.9(CYP21A2):c.448-3C>T	noncoding	Benign
6	32039417	G	A	G32039417A	CYP21A2	NM_000500.9(CYP21A2):c.509G>A:p.Cys170Tyr	coding	Pathogenic
6	32039426	T	A	T32039426A	CYP21A2	NM_000500.9(CYP21A2):c.518T>A:p.Ile173Asn	coding	Pathogenic
6	32039433	C	A	C32039433A	CYP21A2	NM_000500.9(CYP21A2):c.525C>A:p.Tyr175Ter	coding	Pathogenic
6	32039527	C	G	C32039527G	CYP21A2	NM_000500.9(CYP21A2):c.550-19C>G	noncoding	Benign
6	32039531	C	A	C32039531A	CYP21A2	NM_000500.9(CYP21A2):c.550-15C>A	noncoding	Benign
6	32039538	T	C	T32039538C	CYP21A2	NM_000500.9(CYP21A2):c.550-8T>C	noncoding	Benign
6	32039548	C	G	C32039548G	CYP21A2	NM_000500.9(CYP21A2):c.552C>G:p.Asp184Glu	coding	Benign
6	32039677	G	A	G32039677A	CYP21A2	NM_000500.9(CYP21A2):c.651+30G>A	noncoding	Benign
6	32039682	A	G	A32039682G	CYP21A2	NM_000500.9(CYP21A2):c.651+35A>G	noncoding	Benign
6	32039744	C	T	C32039744T	CYP21A2	NM_000500.9(CYP21A2):c.652-5C>T	noncoding	Benign
6	32039802	T	C	T32039802C	CYP21A2	NM_000500.9(CYP21A2):c.705T>C:p.Asp235=	coding	Benign
6	32039847	A	G	A32039847G	CYP21A2	NM_000500.9(CYP21A2):c.738+12A>G	noncoding	Benign
6	32039848	C	T	C32039848T	CYP21A2	NM_000500.9(CYP21A2):c.738+13C>T	noncoding	Benign
6	32040013	C	G	C32040013G	CYP21A2	NM_000500.9(CYP21A2):c.747C>G:p.Leu249=	coding	Benign
6	32040069	C	T	C32040069T	CYP21A2	NM_000500.9(CYP21A2):c.803C>T:p.Pro268Leu	coding	Benign
6	32040072	G	C	G32040072C	CYP21A2;TNXB;LOC106780800	NM_000500.9(CYP21A2):c.806G>C:p.Ser269Thr	coding	Benign
6	32040088	T	C	T32040088C	CYP21A2	NM_000500.9(CYP21A2):c.822T>C:p.Ser274=	coding	Benign
6	32040110	G	C	G32040110C	CYP21A2	NM_000500.9(CYP21A2):c.844G>C:p.Val282Leu	coding	Pathogenic
6	32040110	G	T	G32040110T	CYP21A2	NM_000500.9(CYP21A2):c.844G>T:p.Val282Leu	coding	Pathogenic
6	32040140	G	A	G32040140A	CYP21A2	NM_000500.9(CYP21A2):c.874G>A:p.Gly292Ser	coding	Pathogenic
6	32040216	G	C	G32040216C	CYP21A2	NM_000500.9(CYP21A2):c.939+11G>C	noncoding	Benign
6	32040421	C	T	C32040421T	CYP21A2;TNXB;LOC106780800	NM_000500.7(CYP21A2):c.955C>T:p.Gln319Ter	coding	Pathogenic
6	32040535	C	T	C32040535T	CYP21A2;TNXB;LOC106780800	NM_000500.9(CYP21A2):c.1069C>T:p.Arg357Trp	coding	Pathogenic
6	32040674	C	T	C32040674T	CYP21A2	NM_000500.9(CYP21A2):c.1125C>T:p.Ser375=	coding	Benign
6	32040675	G	A	G32040675A	CYP21A2	NM_000500.9(CYP21A2):c.1126G>A:p.Gly376Ser	coding	Pathogenic
6	32040766	G	A	G32040766A	CYP21A2	NM_000500.9(CYP21A2):c.1217G>A:p.Trp406Ter	coding	Pathogenic
6	32040848	C	T	C32040848T	CYP21A2	NM_000500.9(CYP21A2):c.1223-21C>T	noncoding	Benign
6	32040871	C	T	C32040871T	CYP21A2	NM_000500.9(CYP21A2):c.1225C>T:p.Arg409Cys	coding	Pathogenic
6	32040918	C	A	C32040918A	CYP21A2	NM_000500.9(CYP21A2):c.1272C>A:p.Cys424Ter	coding	Pathogenic
6	32040919	G	A	G32040919A	CYP21A2	NM_000500.9(CYP21A2):c.1273G>A:p.Gly425Ser	coding	Pathogenic
6	32040925	C	T	C32040925T	CYP21A2	NM_000500.9(CYP21A2):c.1279C>T:p.Arg427Cys	coding	Pathogenic
6	32040926	G	A	G32040926A	CYP21A2	NM_000500.9(CYP21A2):c.1280G>A:p.Arg427His	coding	Pathogenic
6	32040937	G	A	G32040937A	CYP21A2	NM_000500.9(CYP21A2):c.1291G>A:p.Gly431Ser	coding	Pathogenic
6	32040966	C	T	C32040966T	CYP21A2	NM_000500.9(CYP21A2):c.1320C>T:p.Phe440=	coding	Benign
6	32041006	C	T	C32041006T	CYP21A2	NM_000500.9(CYP21A2):c.1360C>T:p.Pro454Ser	coding	Pathogenic
6	32041093	C	T	C32041093T	CYP21A2	NM_000500.9(CYP21A2):c.1447C>T:p.Pro483Ser	coding	Pathogenic
6	32041097	G	A	G32041097A	CYP21A2	NM_000500.9(CYP21A2):c.1451G>A:p.Arg484Gln	coding	Pathogenic
6	32041119	G	A	G32041119A	CYP21A2	NM_000500.9(CYP21A2):c.1473G>A:p.Pro491=	coding	Benign
6	32041127	G	A	G32041127A	CYP21A2	NM_000500.9(CYP21A2):c.1481G>A:p.Ser494Asn	coding	Benign
6	32041128	C	T	C32041128T	CYP21A2	NM_000500.9(CYP21A2):c.1482C>T:p.Ser494=	coding	Benign
6	32041136	G	C	G32041136C	CYP21A2	NM_000500.9(CYP21A2):c.*2G>C	noncoding	Benign
6	32041152	C	T	C32041152T	CYP21A2	NM_000500.9(CYP21A2):c.*18C>T	noncoding	Benign
6	32042353	G	A	G32042353A	TNXB	NM_001365276.2(TNXB):c.12220C>T:p.Arg4074Cys	coding	Pathogenic
6	32042495	T	A	T32042495A	TNXB	NM_001365276.2(TNXB):c.12170A>T:p.Asn4057Ile	coding	Benign
6	32042955	T	G	T32042955G	TNXB	NM_001365276.2(TNXB):c.11921A>C:p.Asn3974Thr	coding	Benign
6	32043427	G	C	G32043427C	TNXB	NM_001365276.2(TNXB):c.11650+10C>G	noncoding	Benign
6	32043458	C	T	C32043458T	TNXB	NM_001365276.2(TNXB):c.11629G>A:p.Val3877Ile	coding	Benign
6	32043581	A	G	A32043581G	TNXB	NM_001365276.2(TNXB):c.11531-25T>C	noncoding	Benign
6	32043901	A	G	A32043901G	TNXB	NM_001365276.2(TNXB):c.11387-9T>C	noncoding	Benign
6	32043937	A	G	A32043937G	TNXB	NM_001365276.2(TNXB):c.11387-45T>C	noncoding	Benign
6	32044502	C	T	C32044502T	TNXB	NM_001365276.2(TNXB):c.11142G>A:p.Thr3714=	coding	Benign
6	32044556	A	T	A32044556T	TNXB	NM_001365276.2(TNXB):c.11088T>A:p.Thr3696=	coding	Benign
6	32045040	C	T	C32045040T	TNXB	NM_001365276.2(TNXB):c.10893G>A:p.Lys3631=	coding	Benign
6	32045210	A	G	A32045210G	TNXB	NM_001365276.2(TNXB):c.10723T>C:p.Ser3575Pro	coding	Benign
6	32046413	G	A	G32046413A	TNXB	NM_001365276.2(TNXB):c.10368C>T:p.Thr3456=	coding	Benign/Likely_benign
6	32048638	G	A	G32048638A	TNXB	NM_001365276.2(TNXB):c.9770C>T:p.Thr3257Ile	coding	Pathogenic
6	32049328	A	G	A32049328G	TNXB	NM_001365276.2(TNXB):c.9699T>C:p.His3233=	coding	Benign
6	32049355	C	T	C32049355T	TNXB	NM_001365276.2(TNXB):c.9672G>A:p.Leu3224=	coding	Benign
6	32049386	C	A	C32049386A	TNXB	NM_001365276.2(TNXB):c.9641G>T:p.Gly3214Val	coding	Benign
6	32049396	G	C	G32049396C	TNXB	NM_001365276.2(TNXB):c.9631C>G:p.Arg3211Gly	coding	Benign
6	32049465	C	T	C32049465T	TNXB	NM_001365276.2(TNXB):c.9562G>A:p.Val3188Ile	coding	Benign
6	32052735	T	C	T32052735C	TNXB	NM_001365276.2(TNXB):c.9050A>G:p.Lys3017Arg	coding	Benign
6	32052940	G	T	G32052940T	TNXB	NM_001365276.2(TNXB):c.8845C>A:p.Pro2949Thr	coding	Benign
6	32053578	G	A	G32053578A	TNXB	NM_001365276.2(TNXB):c.8601C>T:p.Pro2867=	coding	Benign
6	32053637	C	T	C32053637T	TNXB	NM_001365276.2(TNXB):c.8542G>A:p.Gly2848Arg	coding	Benign
6	32056126	G	C	G32056126C	TNXB	NM_001365276.2(TNXB):c.8192C>G:p.Pro2731Arg	coding	Benign
6	32056597	A	G	A32056597G	TNXB	NM_001365276.2(TNXB):c.8132T>C:p.Ile2711Thr	coding	Benign/Likely_benign
6	32056618	C	T	C32056618T	TNXB	NM_001365276.2(TNXB):c.8111G>A:p.Arg2704His	coding	Benign
6	32058086	C	T	C32058086T	TNXB	NM_001365276.2(TNXB):c.7797G>A:p.Leu2599=	coding	Benign
6	32058093	C	T	C32058093T	TNXB	NM_001365276.2(TNXB):c.7790G>A:p.Arg2597Gln	coding	Benign
6	32058330	C	T	C32058330T	TNXB	NM_001365276.2(TNXB):c.7553G>A:p.Gly2518Glu	coding	Benign
6	32061406	C	T	C32061406T	TNXB	NM_001365276.2(TNXB):c.7483G>A:p.Gly2495Ser	coding	Benign
6	32061428	G	A	G32061428A	TNXB	NM_001365276.2(TNXB):c.7461C>T:p.Arg2487=	coding	Benign
6	32061449	A	G	A32061449G	TNXB	NM_001365276.2(TNXB):c.7440T>C:p.Tyr2480=	coding	Benign
6	32061512	G	A	G32061512A	TNXB	NM_001365276.2(TNXB):c.7377C>T:p.Gly2459=	coding	Benign
6	32061592	C	T	C32061592T	TNXB	NM_001365276.2(TNXB):c.7297G>A:p.Val2433Ile	coding	Benign/Likely_benign
6	32061638	T	C	T32061638C	TNXB	NM_001365276.2(TNXB):c.7251A>G:p.Leu2417=	coding	Benign
6	32061654	G	A	G32061654A	TNXB	NM_001365276.2(TNXB):c.7235C>T:p.Pro2412Leu	coding	Benign
6	32062138	G	T	G32062138T	TNXB	NM_001365276.2(TNXB):c.7168+19C>A	noncoding	Benign/Likely_benign
6	32062152	C	T	C32062152T	TNXB	NM_001365276.2(TNXB):c.7168+5G>A	noncoding	Benign
6	32062507	G	A	G32062507A	TNXB	NM_001365276.2(TNXB):c.6842-24C>T	noncoding	Benign
6	32064851	C	G	C32064851G	TNXB	NM_001365276.2(TNXB):c.6811G>C:p.Val2271Leu	coding	Benign/Likely_benign
6	32064966	G	A	G32064966A	TNXB	NM_001365276.2(TNXB):c.6696C>T:p.Asp2232=	coding	Benign
6	32067650	T	C	T32067650C	TNXB	NM_001365276.2(TNXB):c.6544+11A>G	noncoding	Benign
6	32067826	C	T	C32067826T	TNXB	NM_001365276.2(TNXB):c.6379G>A:p.Val2127Met	coding	Benign
6	32067917	C	T	C32067917T	TNXB	NM_001365276.2(TNXB):c.6288G>A:p.Pro2096=	coding	Benign
6	32068580	G	A	G32068580A	TNXB	NM_001365276.2(TNXB):c.6030C>T:p.Pro2010=	coding	Benign
6	32069011	C	T	C32069011T	TNXB	NM_001365276.2(TNXB):c.5713G>A:p.Glu1905Lys	coding	Benign
6	32069045	C	T	C32069045T	TNXB	NM_001365276.2(TNXB):c.5679G>A:p.Thr1893=	coding	Benign
6	32072132	C	T	C32072132T	TNXB	NM_001365276.2(TNXB):c.4848G>A:p.Gly1616=	coding	Benign
6	32079167	C	T	C32079167T	TNXB	NM_001365276.2(TNXB):c.4241G>A:p.Arg1414Gln	coding	Benign
6	32081419	C	T	C32081419T	TNXB	NM_001365276.2(TNXB):c.3991G>A:p.Gly1331Arg	coding	Pathogenic
6	32081646	C	T	C32081646T	TNXB	NM_001365276.2(TNXB):c.3764G>A:p.Arg1255His	coding	Benign
6	32082290	T	C	T32082290C	TNXB	NM_001365276.2(TNXB):c.3482A>G:p.His1161Arg	coding	Benign
6	32084439	C	T	C32084439T	TNXB	NM_001365276.2(TNXB):c.3419G>A:p.Gly1140Asp	coding	Benign
6	32084478	T	C	T32084478C	TNXB	NM_001365276.2(TNXB):c.3380A>G:p.Lys1127Arg	coding	Benign
6	32084667	C	T	C32084667T	TNXB	NM_001365276.2(TNXB):c.3191G>A:p.Arg1064His	coding	Benign
6	32088803	A	C	A32088803C	TNXB	NM_001365276.2(TNXB):c.2761T>G:p.Ser921Ala	coding	Benign
6	32089365	G	A	G32089365A	TNXB	NM_001365276.2(TNXB):c.2373C>T:p.Ser791=	coding	Benign
6	32089371	C	T	C32089371T	TNXB	NM_001365276.2(TNXB):c.2367G>A:p.Gly789=	coding	Benign
6	32095593	G	C	G32095593C	TNXB	NM_001365276.2(TNXB):c.2242+18C>G	noncoding	Benign
6	32095904	C	T	C32095904T	TNXB	NM_001365276.2(TNXB):c.1949G>A:p.Arg650His	coding	Benign
6	32096119	G	A	G32096119A	TNXB	NM_001365276.2(TNXB):c.1734C>T:p.Asp578=	coding	Benign
6	32096321	C	T	C32096321T	TNXB	NM_001365276.2(TNXB):c.1532G>A:p.Arg511His	coding	Benign
6	32096384	C	T	C32096384T	TNXB	NM_001365276.2(TNXB):c.1469G>A:p.Arg490Gln	coding	Benign
6	32096944	G	C	G32096944C	TNXB	NM_001365276.2(TNXB):c.909C>G:p.Gly303=	coding	Benign
6	32096949	T	C	T32096949C	TNXB	NM_001365276.2(TNXB):c.904A>G:p.Thr302Ala	coding	Benign
6	32097246	C	T	C32097246T	TNXB	NM_001365276.2(TNXB):c.607G>A:p.Val203Met	coding	Benign
6	32097336	C	T	C32097336T	TNXB	NM_001365276.2(TNXB):c.517G>A:p.Ala173Thr	coding	Benign
6	32117315	C	T	C32117315T	ATF6B	NM_004381.5(ATF6B):c.1614+8G>A	noncoding	Benign
6	32181363	C	T	C32181363T	AGER	NM_001136.5(AGER):c.1106G>A:p.Arg369Gln	coding	Benign
6	32181442	G	A	G32181442A	AGER	NM_001136.5(AGER):c.1027C>T:p.Leu343=	coding	Benign
6	32182270	C	T	C32182270T	AGER	NM_001136.5(AGER):c.941G>A:p.Arg314His	coding	Benign
6	32183681	G	A	G32183681A	AGER	NM_001136.5(AGER):c.229C>T:p.Arg77Cys	coding	Benign
6	32191414	C	T	C32191414T	GPSM3	NM_001276501.2(GPSM3):c.435G>A:p.Gly145=	coding	Benign
6	32192154	G	C	G32192154C	GPSM3	NM_001276501.2(GPSM3):c.139C>G:p.His47Asp	coding	Benign
6	32197022	C	T	C32197022T	NOTCH4	NM_004557.4(NOTCH4):c.5103G>A:p.Gly1701=	coding	Benign
6	32197523	A	G	A32197523G	NOTCH4	NM_004557.4(NOTCH4):c.4828T>C:p.Leu1610=	coding	Benign
6	32199054	C	T	C32199054T	NOTCH4	NM_004557.4(NOTCH4):c.4407G>A:p.Gln1469=	coding	Benign
6	32202194	C	G	C32202194G	NOTCH4	NM_004557.4(NOTCH4):c.3637G>C:p.Gly1213Arg	coding	Benign
6	32202536	C	T	C32202536T	NOTCH4	NM_004557.4(NOTCH4):c.3295G>A:p.Gly1099Arg	coding	Benign
6	32210743	C	A	C32210743A	NOTCH4	NM_004557.4(NOTCH4):c.2865+9G>T	noncoding	Benign
6	32212907	A	C	A32212907C	NOTCH4	NM_004557.4(NOTCH4):c.2443T>G:p.Cys815Gly	coding	Benign/Likely_benign
6	32214225	C	T	C32214225T	NOTCH4	NM_004557.4(NOTCH4):c.2052G>A:p.Thr684=	coding	Benign
6	32215381	C	T	C32215381T	NOTCH4	NM_004557.4(NOTCH4):c.1866G>A:p.Gln622=	coding	Benign
6	32218041	C	T	C32218041T	NOTCH4	NM_004557.4(NOTCH4):c.1578G>A:p.Ala526=	coding	Benign
6	32218115	A	T	A32218115T	NOTCH4	NM_004557.4(NOTCH4):c.1511-7T>A	noncoding	Benign
6	32221132	C	T	C32221132T	NOTCH4	NM_004557.4(NOTCH4):c.645G>A:p.Leu215=	coding	Benign
6	32221166	G	A	G32221166A	NOTCH4	NM_004557.4(NOTCH4):c.611C>T:p.Pro204Leu	coding	Benign
6	32221207	G	A	G32221207A	NOTCH4	NM_004557.4(NOTCH4):c.570C>T:p.Ala190=	coding	Benign
6	32221219	G	A	G32221219A	NOTCH4	NM_004557.4(NOTCH4):c.558C>T:p.Phe186=	coding	Benign
6	32394902	G	A	G32394902A	BTNL2	NM_001304561.1(BTNL2):c.1202C>T:p.Thr401Met	coding	Benign
6	32403082	C	T	C32403082T	BTNL2	NM_001304561.1(BTNL2):c.562G>A:p.Val188Met	coding	Benign
6	32407088	T	C	T32407088C	BTNL2	NM_001304561.1(BTNL2):c.36A>G:p.Ala12=	coding	Benign
6	32442494	A	G	A32442494G	HLA-DRA	NM_019111.5(HLA-DRA):c.129A>G:p.Gln43=	coding	Benign
6	32443749	C	T	C32443749T	HLA-DRA	NM_019111.5(HLA-DRA):c.611-7C>T	noncoding	Benign
6	32518079	T	C	T32518079C	HLA-DRB5	NM_002125.4(HLA-DRB5):c.764-2A>G	noncoding	Benign
6	32518080	G	A	G32518080A	HLA-DRB5	NM_002125.4(HLA-DRB5):c.764-3C>T	noncoding	Benign
6	32761931	G	A	G32761931A	HLA-DQB2	NM_001300790.2(HLA-DQB2):c.98-5C>T	noncoding	Benign
6	32822312	G	A	G32822312A	TAP2	NM_018833.2(TAP2):c.1939C>T:p.Leu647Phe	coding	Benign
6	32828876	C	A	C32828876A	TAP2	NM_000544.3(TAP2):c.2091=:p.Val697=	coding	Benign
6	32828908	A	G	A32828908G	TAP2	NM_000544.3(TAP2):c.2059=:p.Gln687=	coding	Benign
6	32828974	T	C	T32828974C	TAP2	NM_000544.3(TAP2):c.1993=:p.Ala665=	coding	Benign
6	32829391	G	A	G32829391A	TAP2	NM_000544.3(TAP2):c.1932+9C>T	noncoding	Benign
6	32829412	C	T	C32829412T	TAP2	NM_000544.3(TAP2):c.1920G>A:p.Gln640=	coding	Benign
6	32829454	C	T	C32829454T	TAP2	NM_001290043.2(TAP2):c.1878G>A:p.Arg626=	coding	Benign
6	32829506	G	A	G32829506A	TAP2	NM_000544.3(TAP2):c.1826C>T:p.Ala609Val	coding	Benign
6	32829520	T	C	T32829520C	TAP2	NM_000544.3(TAP2):c.1812A>G:p.Gly604=	coding	Benign
6	32829532	T	G	T32829532G	TAP2	NM_000544.3(TAP2):c.1800A>C:p.Val600=	coding	Benign
6	32829970	T	C	T32829970C	TAP2	NM_001290043.2(TAP2):c.1755A>G:p.Ala585=	coding	Benign
6	32830099	A	G	A32830099G	TAP2	NM_000544.3(TAP2):c.1636-10T>C	noncoding	Benign
6	32830680	C	T	C32830680T	TAP2	NM_001290043.2(TAP2):c.1399G>A:p.Val467Ile	coding	Benign
6	32830681	C	T	C32830681T	TAP2	NM_001290043.2(TAP2):c.1398G>A:p.Gly466=	coding	Benign
6	32830705	C	T	C32830705T	TAP2	NM_000544.3(TAP2):c.1374G>A:p.Thr458=	coding	Benign
6	32830771	G	A	G32830771A	TAP2	NM_000544.3(TAP2):c.1308C>T:p.Asn436=	coding	Benign
6	32832444	C	T	C32832444T	TAP2	NM_000544.3(TAP2):c.1161G>A:p.Val387=	coding	Benign
6	32832447	C	A	C32832447A	TAP2	NM_000544.3(TAP2):c.1158G>T:p.Gly386=	coding	Benign
6	32832466	A	G	A32832466G	TAP2	NM_001290043.2(TAP2):c.1144-5T>C	noncoding	Benign
6	32832467	A	T	A32832467T	TAP2	NM_001290043.2(TAP2):c.1144-6T>A	noncoding	Benign
6	32832635	C	T	C32832635T	TAP2	NM_000544.3(TAP2):c.1135G>A:p.Val379Ile	coding	Benign
6	32832650	C	T	C32832650T	TAP2	NM_000544.3(TAP2):c.1120G>A:p.Ala374Thr	coding	Benign
6	32835181	C	T	C32835181T	TAP2	NM_000544.3(TAP2):c.918G>A:p.Ala306=	coding	Benign
6	32835282	G	A	G32835282A	TAP2	NM_000544.3(TAP2):c.817C>T:p.Arg273Ter	coding	Pathogenic
6	32835631	T	A	T32835631A	TAP2	NM_000544.3(TAP2):c.739+12A>T	noncoding	Benign
6	32835724	G	T	G32835724T	TAP2	NM_000544.3(TAP2):c.658C>A:p.Arg220=	coding	Benign
6	32837898	G	A	G32837898A	TAP2	NM_001290043.2(TAP2):c.336C>T:p.Ser112=	coding	Benign
6	32838012	G	T	G32838012T	TAP2	NM_000544.3(TAP2):c.222C>A:p.Pro74=	coding	Benign
6	32838072	C	T	C32838072T	TAP2	NM_000544.3(TAP2):c.162G>A:p.Lys54=	coding	Benign
6	32838190	A	G	A32838190G	TAP2	NM_000544.3(TAP2):c.44T>C:p.Val15Ala	coding	Benign/Likely_benign
6	32838230	G	A	G32838230A	TAP2	NM_000544.3(TAP2):c.4C>T:p.Arg2Trp	coding	Benign
6	32840819	C	T	C32840819T	PSMB8	NM_148919.4(PSMB8):c.*140G>A	noncoding	Benign
6	32840935	C	A	C32840935A	PSMB8	NM_148919.4(PSMB8):c.*24G>T	noncoding	Benign
6	32841541	G	A	G32841541A	PSMB8	NM_148919.4(PSMB8):c.732C>T:p.Gly244=	coding	Benign/Likely_benign
6	32841671	C	A	C32841671A	PSMB8	NM_148919.4(PSMB8):c.602G>T:p.Gly201Val	coding	Pathogenic
6	32842170	G	A	G32842170A	PSMB8	NM_148919.4(PSMB8):c.501C>T:p.Leu167=	coding	Benign/Likely_benign
6	32842188	C	T	C32842188T	PSMB8	NM_148919.4(PSMB8):c.483G>A:p.Gln161=	coding	Benign/Likely_benign
6	32842250	G	A	G32842250A	PSMB8	NM_148919.4(PSMB8):c.421C>T:p.Arg141Ter	coding	Pathogenic
6	32842666	G	A	G32842666A	PSMB8	NM_148919.4(PSMB8):c.407+6C>T	noncoding	Benign
6	32842674	G	T	G32842674T	PSMB8	NM_148919.4(PSMB8):c.405C>A:p.Cys135Ter	coding	Pathogenic
6	32842766	T	G	T32842766G	PSMB8	NM_148919.4(PSMB8):c.313A>C:p.Lys105Gln	coding	Pathogenic
6	32843013	G	A	G32843013A	PSMB8	NM_148919.4(PSMB8):c.224C>T:p.Thr75Met	coding	Pathogenic
6	32843015	G	T	G32843015T	PSMB8	NM_148919.4(PSMB8):c.222C>A:p.Thr74=	coding	Benign
6	32843017	T	A	T32843017A	PSMB8	NM_148919.4(PSMB8):c.220A>T:p.Thr74Ser	coding	Benign
6	32843045	G	A	G32843045A	PSMB8	NM_148919.4(PSMB8):c.192C>T:p.Asn64=	coding	Benign
6	32843852	G	T	G32843852T	PSMB8	NM_148919.4(PSMB8):c.145C>A:p.Gln49Lys	coding	Benign
6	32843868	A	G	A32843868G	PSMB8	NM_148919.4(PSMB8):c.129T>C:p.Ala43=	coding	Benign
6	32843975	C	T	C32843975T	PSMB8	NM_148919.4(PSMB8):c.22G>A:p.Gly8Arg	coding	Benign
6	32845644	G	T	G32845644T	TAP1	NM_000593.5(TAP1):c.2362C>A:p.Gln788Lys	coding	Benign
6	32847125	C	T	C32847125T	TAP1	NM_000593.5(TAP1):c.2163G>A:p.Pro721=	coding	Benign
6	32847165	C	T	C32847165T	TAP1	NM_000593.5(TAP1):c.2123G>A:p.Arg708Gln	coding	Benign
6	32847198	T	C	T32847198C	TAP1	NM_000593.6(TAP1):c.1910A>G:p.Asp637Gly	coding	Benign
6	32848654	G	A	G32848654A	TAP1	NM_000593.6(TAP1):c.1564C>T:p.Gln522Ter	coding	Pathogenic
6	32848666	C	T	C32848666T	TAP1	NM_000593.5(TAP1):c.1732G>A:p.Val578Ile	coding	Benign
6	32848757	G	A	G32848757A	TAP1	NM_000593.5(TAP1):c.1641C>T:p.Arg547=	coding	Benign
6	32848995	C	A	C32848995A	TAP1	NM_000593.5(TAP1):c.1552G>T:p.Val518Leu	coding	Benign
6	32849112	C	A	C32849112A	TAP1	NM_000593.5(TAP1):c.1435G>T:p.Gly479Cys	coding	Benign
6	32850436	G	A	G32850436A	TAP1	NM_000593.6(TAP1):c.1132C>T:p.Arg378Ter	coding	Pathogenic
6	32850459	G	A	G32850459A	TAP1	NM_000593.5(TAP1):c.1289C>T:p.Ala430Val	coding	Benign
6	32850997	T	C	T32850997C	TAP1	NM_000593.5(TAP1):c.1177A>G:p.Ile393Val	coding	Benign
6	32851023	G	C	G32851023C	TAP1	NM_000593.5(TAP1):c.1151C>G:p.Ser384Ter	coding	Pathogenic
6	32851137	G	A	G32851137A	TAP1	NM_000593.5(TAP1):c.1037C>T:p.Ser346Phe	coding	Benign
6	32852191	G	A	G32852191A	TAP1	NM_000593.5(TAP1):c.942C>T:p.Gly314=	coding	Benign
6	32852223	C	A	C32852223A	TAP1	NM_000593.5(TAP1):c.910G>T:p.Val304Leu	coding	Benign
6	32853049	G	C	G32853049C	TAP1	NM_000593.5(TAP1):c.768C>G:p.Leu256=	coding	Benign
6	32853172	G	A	G32853172A	TAP1	NM_000593.5(TAP1):c.645C>T:p.His215=	coding	Benign
6	32853199	C	T	C32853199T	TAP1	NM_000593.5(TAP1):c.618G>A:p.Ala206=	coding	Benign
6	32853200	G	A	G32853200A	TAP1	NM_000593.5(TAP1):c.617C>T:p.Ala206Val	coding	Benign
6	32853214	A	G	A32853214G	TAP1	NM_000593.5(TAP1):c.603T>C:p.Val201=	coding	Benign
6	32853588	C	G	C32853588G	TAP1	NM_000593.5(TAP1):c.229G>C:p.Gly77Arg	coding	Benign
6	32853656	C	T	C32853656T	TAP1	NM_000593.5(TAP1):c.161G>A:p.Arg54Gln	coding	Benign
6	32853670	C	T	C32853670T	TAP1	NM_000593.5(TAP1):c.147G>A:p.Arg49=	coding	Benign
6	32858467	G	A	G32858467A	PSMB9	NM_002800.5(PSMB9):c.494G>A:p.Gly165Asp	coding	Pathogenic
6	32949723	A	G	A32949723G	HLA-DMA	NM_006120.4(HLA-DMA):c.540T>C:p.Asp180=	coding	Benign
6	32974487	T	C	T32974487C	BRD2	NM_005104.4(BRD2):c.55T>C:p.Leu19=	coding	Benign
6	32974500	G	A	G32974500A	BRD2	NM_005104.4(BRD2):c.68G>A:p.Gly23Asp	coding	Benign
6	32974609	C	A	C32974609A	BRD2	NM_005104.4(BRD2):c.177C>A:p.Ala59=	coding	Benign
6	32974633	C	T	C32974633T	BRD2	NM_005104.4(BRD2):c.201C>T:p.Ser67=	coding	Benign
6	32975452	T	C	T32975452C	BRD2	NM_005104.4(BRD2):c.402T>C:p.Tyr134=	coding	Benign
6	32976246	C	G	C32976246G	BRD2	NM_005104.4(BRD2):c.611-4C>G	noncoding	Benign
6	32976260	C	T	C32976260T	BRD2	NM_005104.4(BRD2):c.621C>T:p.Gly207=	coding	Benign
6	32976351	C	T	C32976351T	BRD2	NM_005104.4(BRD2):c.712C>T:p.Leu238Phe	coding	Benign
6	32976927	C	T	C32976927T	BRD2	NM_005104.4(BRD2):c.1191C>T:p.Ser397=	coding	Benign
6	32977753	G	C	G32977753C	BRD2	NM_005104.4(BRD2):c.1330-4G>C	noncoding	Benign
6	32977942	A	G	A32977942G	BRD2	NM_005104.4(BRD2):c.1515A>G:p.Glu505=	coding	Benign
6	32978252	G	A	G32978252A	BRD2	NM_005104.4(BRD2):c.1705G>A:p.Ala569Thr	coding	Benign
6	32978342	G	C	G32978342C	BRD2	NM_005104.4(BRD2):c.1795G>C:p.Ala599Pro	coding	Benign
6	32980608	G	A	G32980608A	BRD2	NM_005104.4(BRD2):c.2296G>A:p.Ala766Thr	coding	Benign
6	33068771	G	A	G33068771A	HLA-DPA1	NM_001242525.2(HLA-DPA1):c.662C>T:p.Thr221Met	coding	Benign
6	33076065	G	A	G33076065A	HLA-DPB1	NM_002121.6(HLA-DPB1):c.24G>A:p.Ala8=	coding	Benign
6	33076088	C	T	C33076088T	HLA-DPB1	NM_002121.6(HLA-DPB1):c.47C>T:p.Thr16Met	coding	Benign
6	33076122	C	T	C33076122T	HLA-DPB1	NM_002121.6(HLA-DPB1):c.81C>T:p.Val27=	coding	Benign
6	33076149	C	T	C33076149T	HLA-DPB1	NM_002121.6(HLA-DPB1):c.100+8C>T	noncoding	Benign
6	33163674	G	A	G33163674A	COL11A2	NM_080680.3(COL11A2):c.*4C>T	noncoding	Benign/Likely_benign
6	33163724	G	A	G33163724A	COL11A2	NM_080680.3(COL11A2):c.5165C>T:p.Pro1722Leu	coding	Benign/Likely_benign
6	33163823	A	C	A33163823C	COL11A2	NM_080680.3(COL11A2):c.5071-5T>G	noncoding	Benign/Likely_benign
6	33164337	C	T	C33164337T	COL11A2	NM_080680.3(COL11A2):c.5000G>A:p.Arg1667His	coding	Benign/Likely_benign
6	33164453	C	G	C33164453G	COL11A2	NM_080680.3(COL11A2):c.4884G>C:p.Glu1628Asp	coding	Benign/Likely_benign
6	33164537	G	A	G33164537A	COL11A2	NM_080680.3(COL11A2):c.4864-64C>T	noncoding	Benign
6	33164561	G	A	G33164561A	COL11A2	NM_080680.3(COL11A2):c.4864-88C>T	noncoding	Benign
6	33164916	C	T	C33164916T	COL11A2	NM_080680.3(COL11A2):c.4799G>A:p.Arg1600Gln	coding	Benign/Likely_benign
6	33165263	G	A	G33165263A	COL11A2	NM_080680.3(COL11A2):c.4750+286C>T	noncoding	Benign
6	33165778	C	T	C33165778T	COL11A2	NM_080680.3(COL11A2):c.4521G>A:p.Gln1507=	coding	Benign/Likely_benign
6	33165948	C	T	C33165948T	COL11A2	NM_080680.3(COL11A2):c.4465G>A:p.Gly1489Ser	coding	Pathogenic
6	33165955	A	T	A33165955T	COL11A2	NM_080680.3(COL11A2):c.4458T>A:p.Gly1486=	coding	Benign/Likely_benign
6	33166501	G	A	G33166501A	COL11A2	NM_080680.3(COL11A2):c.4392+12C>T	noncoding	Benign/Likely_benign
6	33166512	C	T	C33166512T	COL11A2	NM_080680.3(COL11A2):c.4392+1G>A	noncoding	Pathogenic
6	33166615	C	A	C33166615A	COL11A2	NM_080680.3(COL11A2):c.4339-49G>T	noncoding	Benign
6	33166736	C	T	C33166736T	COL11A2	NM_080680.3(COL11A2):c.4322G>A:p.Gly1441Glu	coding	Pathogenic
6	33166793	G	A	G33166793A	COL11A2	NM_080680.3(COL11A2):c.4265C>T:p.Pro1422Leu	coding	Benign/Likely_benign
6	33167305	G	A	G33167305A	COL11A2	NM_080680.3(COL11A2):c.4135C>T:p.Arg1379Ter	coding	Pathogenic/Likely_pathogenic
6	33167507	C	T	C33167507T	COL11A2	NM_080680.3(COL11A2):c.4041G>A:p.Pro1347=	coding	Benign/Likely_benign
6	33167614	C	T	C33167614T	COL11A2	NM_080680.3(COL11A2):c.4015-81G>A	noncoding	Benign
6	33167615	A	G	A33167615G	COL11A2	NM_080680.3(COL11A2):c.4015-82T>C	noncoding	Benign
6	33167822	G	A	G33167822A	COL11A2	NM_080680.3(COL11A2):c.3991C>T:p.Arg1331Ter	coding	Pathogenic
6	33167838	C	T	C33167838T	COL11A2	NM_080680.3(COL11A2):c.3975G>A:p.Ser1325=	coding	Benign/Likely_benign
6	33168284	C	T	C33168284T	COL11A2	NM_080680.3(COL11A2):c.3960+235G>A	noncoding	Benign
6	33168533	G	T	G33168533T	COL11A2	NM_080680.3(COL11A2):c.3946C>A:p.Pro1316Thr	coding	Benign
6	33168735	G	A	G33168735A	COL11A2	NM_080680.3(COL11A2):c.3877C>T:p.Arg1293Ter	coding	Pathogenic
6	33168752	T	C	T33168752C	COL11A2	NM_080680.3(COL11A2):c.3860A>G:p.Asp1287Gly	coding	Benign/Likely_benign
6	33168798	C	T	C33168798T	COL11A2	NM_080680.3(COL11A2):c.3853-39G>A	noncoding	Benign
6	33168861	G	A	G33168861A	COL11A2	NM_080680.3(COL11A2):c.3852+94C>T	noncoding	Benign
6	33169284	C	T	C33169284T	COL11A2	NM_080680.3(COL11A2):c.3798+99G>A	noncoding	Benign
6	33169482	G	A	G33169482A	COL11A2	NM_080680.3(COL11A2):c.3699C>T:p.Arg1233=	coding	Benign/Likely_benign
6	33169950	C	T	C33169950T	COL11A2	NM_080680.3(COL11A2):c.3637-66G>A	noncoding	Benign
6	33170068	G	T	G33170068T	COL11A2	NM_080680.3(COL11A2):c.3615C>A:p.Asn1205Lys	coding	Benign/Likely_benign
6	33170105	A	G	A33170105G	COL11A2	NM_080680.3(COL11A2):c.3583-5T>C	noncoding	Benign/Likely_benign
6	33170238	T	C	T33170238C	COL11A2	NM_080680.3(COL11A2):c.3582+88A>G	noncoding	Benign
6	33170423	T	C	T33170423C	COL11A2	NM_080680.3(COL11A2):c.3529-44A>G	noncoding	Benign
6	33170721	T	C	T33170721C	COL11A2	NM_080680.3(COL11A2):c.3474+89A>G	noncoding	Benign
6	33170900	G	A	G33170900A	COL11A2	NM_080680.3(COL11A2):c.3384C>T:p.Pro1128=	coding	Benign
6	33171178	G	A	G33171178A	COL11A2	NM_080680.3(COL11A2):c.3313-11C>T	noncoding	Benign
6	33171407	G	C	G33171407C	COL11A2	NM_080680.3(COL11A2):c.3258+60C>G	noncoding	Benign
6	33171551	C	T	C33171551T	COL11A2	NM_080680.3(COL11A2):c.3174G>A:p.Pro1058=	coding	Benign
6	33171698	T	G	T33171698G	COL11A2	NM_080680.3(COL11A2):c.3150+15A>C	noncoding	Benign
6	33171752	C	A	C33171752A	COL11A2	NM_080680.3(COL11A2):c.3111G>T:p.Pro1037=	coding	Benign/Likely_benign
6	33171763	G	A	G33171763A	COL11A2	NM_080680.3(COL11A2):c.3100C>T:p.Arg1034Cys	coding	Pathogenic/Likely_pathogenic
6	33171885	A	G	A33171885G	COL11A2	NM_080680.3(COL11A2):c.3043-65T>C	noncoding	Benign
6	33172232	T	G	T33172232G	COL11A2	NM_080680.3(COL11A2):c.2988+57A>C	noncoding	Benign
6	33173093	G	A	G33173093A	COL11A2	NM_080680.3(COL11A2):c.2757C>T:p.Gly919=	coding	Benign/Likely_benign
6	33173206	A	G	A33173206G	COL11A2	NM_080680.3(COL11A2):c.2737-93T>C	noncoding	Benign
6	33173384	A	G	A33173384G	COL11A2	NM_080680.3(COL11A2):c.2700T>C:p.Asp900=	coding	Benign
6	33173476	T	G	T33173476G	COL11A2	NM_080680.3(COL11A2):c.2682+26A>C	noncoding	Benign
6	33173503	G	A	G33173503A	COL11A2	NM_080680.3(COL11A2):c.2681C>T:p.Pro894Leu	coding	Benign
6	33173522	G	T	G33173522T	COL11A2	NM_080680.3(COL11A2):c.2662C>A:p.Pro888Thr	coding	Pathogenic
6	33173612	C	T	C33173612T	COL11A2	NM_080680.3(COL11A2):c.2629-57G>A	noncoding	Benign
6	33173698	C	T	C33173698T	COL11A2	NM_080680.3(COL11A2):c.2628+3G>A	noncoding	Benign
6	33174020	C	T	C33174020T	COL11A2	NM_080680.3(COL11A2):c.2520G>A:p.Arg840=	coding	Benign/Likely_benign
6	33174048	G	T	G33174048T	COL11A2	NM_080680.3(COL11A2):c.2492C>A:p.Ser831Ter	coding	Pathogenic
6	33174143	G	C	G33174143C	COL11A2	NM_080680.3(COL11A2):c.2484+22C>G	noncoding	Benign
6	33174476	C	G	C33174476G	COL11A2	NM_080680.3(COL11A2):c.2430+51G>C	noncoding	Benign
6	33174534	C	T	C33174534T	COL11A2	NM_080680.3(COL11A2):c.2423G>A:p.Gly808Glu	coding	Pathogenic
6	33175614	G	A	G33175614A	COL11A2	NM_080680.3(COL11A2):c.2336C>T:p.Pro779Leu	coding	Benign/Likely_benign
6	33175979	A	G	A33175979G	COL11A2	NM_080680.3(COL11A2):c.2268+37T>C	noncoding	Benign
6	33176171	C	G	C33176171G	COL11A2	NM_080680.3(COL11A2):c.2214+88G>C	noncoding	Benign
6	33176287	C	T	C33176287T	COL11A2	NM_080680.3(COL11A2):c.2186G>A:p.Arg729Gln	coding	Benign/Likely_benign
6	33176466	T	A	T33176466A	COL11A2	NM_080680.3(COL11A2):c.2136A>T:p.Gly712=	coding	Benign
6	33176689	C	A	C33176689A	COL11A2	NM_080680.3(COL11A2):c.2115+32G>T	noncoding	Benign
6	33176714	A	G	A33176714G	COL11A2	NM_080680.3(COL11A2):c.2115+7T>C	noncoding	Benign/Likely_benign
6	33177216	C	T	C33177216T	COL11A2	NM_080680.3(COL11A2):c.1981G>A:p.Gly661Arg	coding	Pathogenic
6	33177241	G	A	G33177241A	COL11A2	NM_080680.3(COL11A2):c.1972-16C>T	noncoding	Benign
6	33177592	C	A	C33177592A	COL11A2	NM_080680.3(COL11A2):c.1917+70G>T	noncoding	Benign
6	33177704	G	A	G33177704A	COL11A2	NM_080680.3(COL11A2):c.1875C>T:p.Gly625=	coding	Benign/Likely_benign
6	33178741	A	C	A33178741C	COL11A2	NM_080680.3(COL11A2):c.1666-9T>G	noncoding	Benign
6	33179812	T	G	T33179812G	COL11A2	NM_080680.3(COL11A2):c.1360-7A>C	noncoding	Benign
6	33181101	C	T	C33181101T	COL11A2	NM_080680.3(COL11A2):c.1179+10G>A	noncoding	Benign
6	33184103	C	A	C33184103A	COL11A2	NM_080680.3(COL11A2):c.1119+42G>T	noncoding	Benign
6	33184166	C	T	C33184166T	COL11A2	NM_080680.3(COL11A2):c.1098G>A:p.Ala366=	coding	Benign/Likely_benign
6	33185058	A	T	A33185058T	COL11A2	NM_080680.3(COL11A2):c.877-4T>A	noncoding	Benign
6	33185088	G	A	G33185088A	COL11A2	NM_080680.3(COL11A2):c.877-34C>T	noncoding	Benign
6	33185345	C	G	C33185345G	COL11A2	NM_080680.3(COL11A2):c.877-291G>C	noncoding	Benign
6	33185751	C	T	C33185751T	COL11A2	NM_080680.3(COL11A2):c.826G>A:p.Glu276Lys	coding	Benign
6	33186056	A	G	A33186056G	COL11A2	NM_080680.3(COL11A2):c.799-278T>C	noncoding	Benign
6	33186589	G	T	G33186589T	COL11A2	NM_080680.3(COL11A2):c.798+38C>A	coding	Benign
6	33189031	C	G	C33189031G	COL11A2	NM_080680.3(COL11A2):c.390G>C:p.Arg130=	coding	Benign/Likely_benign
6	33189092	C	T	C33189092T	COL11A2	NM_080680.3(COL11A2):c.329G>A:p.Arg110Gln	coding	Benign/Likely_benign
6	33189322	G	T	G33189322T	COL11A2	NM_080680.3(COL11A2):c.230C>A:p.Pro77Gln	coding	Benign/Likely_benign
6	33189362	G	A	G33189362A	COL11A2	NM_080680.3(COL11A2):c.190C>T:p.Arg64Ter	coding	Pathogenic
6	33189443	C	A	C33189443A	COL11A2	NM_080680.3(COL11A2):c.109G>T:p.Ala37Ser	coding	Pathogenic
6	33192414	G	T	G33192414T	COL11A2	NM_080680.3(COL11A2):c.-174C>A	noncoding	Benign
6	33192440	C	T	C33192440T	COL11A2	NM_080680.3(COL11A2):c.-200G>A	noncoding	Benign/Likely_benign
6	33192648	G	T	G33192648T	COL11A2	NC_000006.12:g.33192648G>T	noncoding	Benign
6	33201416	C	A	C33201416A	SLC39A7	NM_006979.3(SLC39A7):c.171C>A:p.Gly57=	coding	Benign
6	33201804	C	T	C33201804T	SLC39A7	NM_006979.3(SLC39A7):c.471C>T:p.Pro157=	coding	Benign
6	33202372	T	C	T33202372C	SLC39A7	NM_006979.3(SLC39A7):c.744T>C:p.His248=	coding	Benign
6	33210005	C	T	C33210005T	RING1	NM_002931.4(RING1):c.330C>T:p.Ile110=	coding	Benign
6	33264910	T	A	T33264910A	VPS52	NM_022553.6(VPS52):c.1282-10A>T	noncoding	Benign
6	33266665	G	A	G33266665A	VPS52	NM_022553.6(VPS52):c.1173C>T:p.Asp391=	coding	Benign
6	33266677	G	A	G33266677A	VPS52	NM_022553.6(VPS52):c.1161C>T:p.Tyr387=	coding	Benign
6	33290842	C	A	C33290842A	PFDN6	NM_001185181.3(PFDN6):c.387C>A:p.Ala129=	coding	Benign
6	33293257	C	G	C33293257G	RGL2	NM_004761.5(RGL2):c.1766G>C:p.Ser589Thr	coding	Benign
6	33297068	G	A	G33297068A	RGL2	NM_004761.5(RGL2):c.204C>T:p.Thr68=	coding	Benign
6	33304144	C	T	C33304144T	TAPBP	NM_003190.5(TAPBP):c.1284G>A:p.Lys428=	coding	Benign
6	33304176	G	A	G33304176A	TAPBP	NM_003190.4(TAPBP):c.1252C>T:p.Leu418=	coding	Benign
6	33304189	G	A	G33304189A	TAPBP	NM_003190.4(TAPBP):c.1239C>T:p.Ser413=	coding	Benign
6	33304535	C	T	C33304535T	TAPBP	NM_003190.4(TAPBP):c.972G>A:p.Gly324=	coding	Benign
6	33305078	G	C	G33305078C	TAPBP	NM_003190.5(TAPBP):c.779C>G:p.Thr260Arg	coding	Benign
6	33305284	G	A	G33305284A	TAPBP	NM_003190.4(TAPBP):c.573C>T:p.Ala191=	coding	Benign
6	33313353	G	C	G33313353C	TAPBP	NM_003190.5(TAPBP):c.333C>G:p.Pro111=	coding	Benign
6	33313728	C	A	C33313728A	TAPBP	NM_003190.5(TAPBP):c.174G>T:p.Pro58=	coding	Benign
6	33313799	C	T	C33313799T	TAPBP	NM_003190.5(TAPBP):c.103G>A:p.Gly35Arg	coding	Benign
6	33315989	T	C	T33315989C	TAPBP	NM_005453.5(ZBTB22):c.928A>G:p.Thr310Ala	coding	Benign
6	33320019	G	C	G33320019C	DAXX	NM_001141969.2(DAXX):c.1457C>G:p.Ala486Gly	coding	Benign
6	33320159	G	A	G33320159A	DAXX	NM_001141969.2(DAXX):c.1317C>T:p.Asp439=	coding	Benign
6	33320508	C	T	C33320508T	DAXX	NM_001141969.2(DAXX):c.1123G>A:p.Val375Ile	coding	Benign
6	33420332	G	T	G33420332T	SYNGAP1	NM_006772.3(SYNGAP1):c.67+1G>T	coding	Pathogenic
6	33423493	T	C	T33423493C	SYNGAP1	NM_006772.3(SYNGAP1):c.84T>C:p.Ser28=	coding	Benign
6	33425806	C	T	C33425806T	SYNGAP1	NM_006772.3(SYNGAP1):c.198C>T:p.Pro66=	coding	Benign
6	33432153	C	T	C33432153T	SYNGAP1	NM_006772.3(SYNGAP1):c.296-8C>T	noncoding	Benign
6	33432253	G	A	G33432253A	SYNGAP1	NM_006772.3(SYNGAP1):c.387+1G>A	coding	Pathogenic
6	33432683	A	G	A33432683G	SYNGAP1	NM_006772.3(SYNGAP1):c.388-2A>G	noncoding	Pathogenic
6	33432700	C	T	C33432700T	SYNGAP1	NM_006772.3(SYNGAP1):c.403C>T:p.Arg135Ter	coding	Pathogenic
6	33432709	A	T	A33432709T	SYNGAP1	NM_006772.3(SYNGAP1):c.412A>T:p.Lys138Ter	coding	Pathogenic
6	33432724	C	T	C33432724T	SYNGAP1	NM_006772.3(SYNGAP1):c.427C>T:p.Arg143Ter	coding	Pathogenic
6	33432769	C	T	C33432769T	SYNGAP1	NM_006772.3(SYNGAP1):c.472C>T:p.Gln158Ter	coding	Pathogenic
6	33432787	C	T	C33432787T	SYNGAP1	NM_006772.3(SYNGAP1):c.490C>T:p.Arg164Ter	coding	Pathogenic
6	33432806	G	A	G33432806A	SYNGAP1	NM_006772.3(SYNGAP1):c.509G>A:p.Arg170Gln	coding	Pathogenic/Likely_pathogenic
6	33432807	G	A	G33432807A	SYNGAP1	NM_006772.3(SYNGAP1):c.509+1G>A	coding	Pathogenic
6	33435150	A	G	A33435150G	SYNGAP1	NM_006772.3(SYNGAP1):c.510-2A>G	noncoding	Pathogenic
6	33435228	T	C	T33435228C	SYNGAP1	NM_006772.3(SYNGAP1):c.586T>C:p.Leu196=	coding	Benign/Likely_benign
6	33435558	C	T	C33435558T	SYNGAP1	NM_006772.3(SYNGAP1):c.707C>T:p.Ala236Val	coding	Benign
6	33435590	C	T	C33435590T	SYNGAP1	NM_006772.3(SYNGAP1):c.739C>T:p.Gln247Ter	coding	Pathogenic
6	33435614	G	T	G33435614T	SYNGAP1	NM_006772.3(SYNGAP1):c.762+1G>T	coding	Pathogenic
6	33437842	G	T	G33437842T	SYNGAP1	NM_006772.3(SYNGAP1):c.937G>T:p.Glu313Ter	coding	Pathogenic
6	33437885	T	C	T33437885C	SYNGAP1	NM_006772.3(SYNGAP1):c.980T>C:p.Leu327Pro	coding	Pathogenic
6	33437935	G	A	G33437935A	SYNGAP1	NM_006772.3(SYNGAP1):c.1030G>A:p.Gly344Ser	coding	Pathogenic
6	33437989	T	C	T33437989C	SYNGAP1	NM_006772.3(SYNGAP1):c.1084T>C:p.Trp362Arg	coding	Pathogenic
6	33438022	G	T	G33438022T	SYNGAP1	NM_006772.3(SYNGAP1):c.1117G>T:p.Gly373Ter	coding	Pathogenic
6	33438148	G	T	G33438148T	SYNGAP1	NM_006772.3(SYNGAP1):c.1243G>T:p.Glu415Ter	coding	Pathogenic
6	33438174	T	G	T33438174G	SYNGAP1	NM_006772.3(SYNGAP1):c.1269T>G:p.Tyr423Ter	coding	Pathogenic
6	33438255	A	G	A33438255G	SYNGAP1	NM_006772.3(SYNGAP1):c.1350A>G:p.Ala450=	coding	Benign
6	33438478	C	A	C33438478A	SYNGAP1	NM_006772.3(SYNGAP1):c.1446C>A:p.Leu482=	coding	Benign/Likely_benign
6	33438523	T	C	T33438523C	SYNGAP1	NM_006772.3(SYNGAP1):c.1491T>C:p.Tyr497=	coding	Benign/Likely_benign
6	33438770	C	G	C33438770G	SYNGAP1	NM_006772.3(SYNGAP1):c.1532-5C>G	noncoding	Benign
6	33438772	C	G	C33438772G	SYNGAP1	NM_006772.3(SYNGAP1):c.1532-3C>G	noncoding	Pathogenic
6	33438779	A	G	A33438779G	SYNGAP1	NM_006772.3(SYNGAP1):c.1536A>G:p.Glu512=	coding	Benign
6	33438861	C	T	C33438861T	SYNGAP1	NM_006772.3(SYNGAP1):c.1618C>T:p.Gln540Ter	coding	Pathogenic
6	33438873	C	T	C33438873T	SYNGAP1	NM_006772.3(SYNGAP1):c.1630C>T:p.Arg544Ter	coding	Pathogenic
6	33440765	G	A	G33440765A	SYNGAP1	NM_006772.3(SYNGAP1):c.1713G>A:p.Ser571=	coding	Benign
6	33440768	G	A	G33440768A	SYNGAP1	NM_006772.3(SYNGAP1):c.1716G>A:p.Trp572Ter	coding	Pathogenic
6	33440787	C	T	C33440787T	SYNGAP1	NM_006772.3(SYNGAP1):c.1735C>T:p.Arg579Ter	coding	Pathogenic
6	33440828	A	G	A33440828G	SYNGAP1	NM_006772.3(SYNGAP1):c.1776A>G:p.Ser592=	coding	Benign/Likely_benign
6	33440855	G	A	G33440855A	SYNGAP1	NM_006772.3(SYNGAP1):c.1803G>A:p.Ala601=	coding	Benign
6	33440903	G	A	G33440903A	SYNGAP1	NM_006772.3(SYNGAP1):c.1851G>A:p.Glu617=	coding	Benign
6	33440913	C	T	C33440913T	SYNGAP1	NM_006772.3(SYNGAP1):c.1861C>T:p.Arg621Ter	coding	Pathogenic
6	33440943	C	T	C33440943T	SYNGAP1	NM_006772.3(SYNGAP1):c.1891C>T:p.Gln631Ter	coding	Pathogenic
6	33441194	T	C	T33441194C	SYNGAP1	NM_006772.3(SYNGAP1):c.1935T>C:p.Phe645=	coding	Benign/Likely_benign
6	33441275	G	A	G33441275A	SYNGAP1	NM_006772.3(SYNGAP1):c.2016G>A:p.Thr672=	coding	Benign/Likely_benign
6	33441318	C	T	C33441318T	SYNGAP1	NM_006772.3(SYNGAP1):c.2059C>T:p.Arg687Ter	coding	Pathogenic/Likely_pathogenic
6	33441363	C	T	C33441363T	SYNGAP1	NM_006772.3(SYNGAP1):c.2104C>T:p.Gln702Ter	coding	Pathogenic
6	33441622	C	T	C33441622T	SYNGAP1	NM_006772.3(SYNGAP1):c.2157C>T:p.Asn719=	coding	Benign
6	33441674	C	T	C33441674T	SYNGAP1	NM_006772.3(SYNGAP1):c.2209C>T:p.Gln737Ter	coding	Pathogenic
6	33441680	G	T	G33441680T	SYNGAP1	NM_006772.3(SYNGAP1):c.2215G>T:p.Glu739Ter	coding	Pathogenic
6	33441695	C	T	C33441695T	SYNGAP1	NM_006772.3(SYNGAP1):c.2230C>T:p.Gln744Ter	coding	Pathogenic
6	33441731	C	T	C33441731T	SYNGAP1	NM_006772.3(SYNGAP1):c.2266C>T:p.Gln756Ter	coding	Pathogenic
6	33441760	G	T	G33441760T	SYNGAP1	NM_006772.3(SYNGAP1):c.2294+1G>T	coding	Pathogenic
6	33442481	C	T	C33442481T	SYNGAP1	NM_006772.3(SYNGAP1):c.2323C>T:p.Arg775Ter	coding	Pathogenic
6	33443046	C	T	C33443046T	SYNGAP1	NM_006772.3(SYNGAP1):c.2494C>T:p.Gln832Ter	coding	Pathogenic
6	33443091	C	T	C33443091T	SYNGAP1	NM_006772.3(SYNGAP1):c.2539C>T:p.Gln847Ter	coding	Pathogenic
6	33443130	G	A	G33443130A	SYNGAP1	NM_006772.3(SYNGAP1):c.2578G>A:p.Val860Ile	coding	Benign
6	33443307	C	T	C33443307T	SYNGAP1	NM_006772.3(SYNGAP1):c.2755C>T:p.Gln919Ter	coding	Pathogenic
6	33443316	C	T	C33443316T	SYNGAP1	NM_006772.3(SYNGAP1):c.2764C>T:p.Arg922Ter	coding	Pathogenic
6	33443382	G	A	G33443382A	SYNGAP1	NM_006772.3(SYNGAP1):c.2830G>A:p.Gly944Ser	coding	Benign
6	33443451	C	T	C33443451T	SYNGAP1	NM_006772.3(SYNGAP1):c.2899C>T:p.Arg967Ter	coding	Pathogenic
6	33443522	C	T	C33443522T	SYNGAP1	NM_006772.3(SYNGAP1):c.2970C>T:p.Ser990=	coding	Benign
6	33443625	C	T	C33443625T	SYNGAP1	NM_006772.3(SYNGAP1):c.3073C>T:p.Gln1025Ter	coding	Pathogenic/Likely_pathogenic
6	33443676	C	T	C33443676T	SYNGAP1	NM_006772.3(SYNGAP1):c.3124C>T:p.Gln1042Ter	coding	Pathogenic
6	33443686	C	G	C33443686G	SYNGAP1	NM_006772.3(SYNGAP1):c.3134C>G:p.Ala1045Gly	coding	Benign
6	33443712	G	A	G33443712A	SYNGAP1	NM_006772.3(SYNGAP1):c.3160G>A:p.Gly1054Ser	coding	Benign
6	33443742	C	T	C33443742T	SYNGAP1	NM_006772.3(SYNGAP1):c.3190C>T:p.Gln1064Ter	coding	Pathogenic
6	33443825	A	G	A33443825G	SYNGAP1	NM_006772.3(SYNGAP1):c.3273A>G:p.Leu1091=	coding	Benign/Likely_benign
6	33443829	C	T	C33443829T	SYNGAP1	NM_006772.3(SYNGAP1):c.3277C>T:p.Gln1093Ter	coding	Pathogenic
6	33443849	T	C	T33443849C	SYNGAP1	NM_006772.3(SYNGAP1):c.3297T>C:p.Tyr1099=	coding	Benign/Likely_benign
6	33443876	C	T	C33443876T	SYNGAP1	NM_006772.3(SYNGAP1):c.3324C>T:p.Ser1108=	coding	Benign/Likely_benign
6	33443896	T	C	T33443896C	SYNGAP1	NM_006772.3(SYNGAP1):c.3344T>C:p.Ile1115Thr	coding	Benign
6	33443961	G	A	G33443961A	SYNGAP1	NM_006772.3(SYNGAP1):c.3408+1G>A	coding	Pathogenic
6	33443961	G	T	G33443961T	SYNGAP1	NM_006772.3(SYNGAP1):c.3408+1G>T	coding	Pathogenic
6	33444450	C	T	C33444450T	SYNGAP1	NM_006772.3(SYNGAP1):c.3415C>T:p.Gln1139Ter	coding	Pathogenic
6	33444506	G	A	G33444506A	SYNGAP1	NM_006772.3(SYNGAP1):c.3471G>A:p.Trp1157Ter	coding	Pathogenic
6	33444588	A	T	A33444588T	SYNGAP1	NM_006772.3(SYNGAP1):c.3553A>T:p.Lys1185Ter	coding	Pathogenic
6	33444621	C	T	C33444621T	SYNGAP1	NM_006772.3(SYNGAP1):c.3582+4C>T	noncoding	Benign
6	33444624	T	C	T33444624C	SYNGAP1	NM_006772.3(SYNGAP1):c.3582+7T>C	noncoding	Benign/Likely_benign
6	33446566	G	A	G33446566A	SYNGAP1	NM_006772.3(SYNGAP1):c.3583-9G>A	noncoding	Pathogenic
6	33446630	A	G	A33446630G	SYNGAP1	NM_006772.3(SYNGAP1):c.3638A>G:p.Asn1213Ser	coding	Benign
6	33446698	C	T	C33446698T	SYNGAP1	NM_006772.3(SYNGAP1):c.3706C>T:p.Gln1236Ter	coding	Pathogenic
6	33446710	C	T	C33446710T	SYNGAP1	NM_006772.3(SYNGAP1):c.3718C>T:p.Arg1240Ter	coding	Pathogenic
6	33447859	G	T	G33447859T	SYNGAP1	NM_006772.3(SYNGAP1):c.3811G>T:p.Glu1271Ter	coding	Pathogenic
6	33451787	A	G	A33451787G	SYNGAP1	NM_006772.3(SYNGAP1):c.3913A>G:p.Thr1305Ala	coding	Benign/Likely_benign
6	33451836	C	A	C33451836A	SYNGAP1	NM_006772.3(SYNGAP1):c.3962C>A:p.Pro1321Gln	coding	Benign
6	33451852	A	C	A33451852C	SYNGAP1	NM_006772.3(SYNGAP1):c.3978A>C:p.Pro1326=	coding	Benign/Likely_benign
6	33575916	G	A	G33575916A	BAK1	NM_001188.4(BAK1):c.83C>T:p.Ala28Val	coding	Benign
6	33659461	C	T	C33659461T	ITPR3	NM_002224.4(ITPR3):c.628-5C>T	noncoding	Benign
6	33663842	C	T	C33663842T	ITPR3	NM_002224.4(ITPR3):c.1110C>T:p.Asp370=	coding	Benign
6	33663853	T	G	T33663853G	ITPR3	NM_002224.4(ITPR3):c.1121T>G:p.Leu374Trp	coding	Benign
6	33665145	C	T	C33665145T	ITPR3	NM_002224.4(ITPR3):c.1341C>T:p.Asp447=	coding	Benign
6	33665981	G	A	G33665981A	ITPR3	NM_002224.4(ITPR3):c.1551+5G>A	noncoding	Benign
6	33667297	C	T	C33667297T	ITPR3	NM_002224.4(ITPR3):c.1713+7C>T	noncoding	Benign
6	33668983	C	G	C33668983G	ITPR3	NM_002224.4(ITPR3):c.2016C>G:p.Pro672=	coding	Benign
6	33670361	C	A	C33670361A	ITPR3	NM_002224.4(ITPR3):c.2226C>A:p.Asp742Glu	coding	Benign
6	33670728	C	G	C33670728G	ITPR3	NM_002224.4(ITPR3):c.2499C>G:p.Thr833=	coding	Benign
6	33675735	T	C	T33675735C	ITPR3	NM_002224.4(ITPR3):c.3161T>C:p.Met1054Thr	coding	Benign
6	33678725	C	T	C33678725T	ITPR3	NM_002224.4(ITPR3):c.3858C>T:p.Phe1286=	coding	Benign
6	33678782	C	T	C33678782T	ITPR3	NM_002224.4(ITPR3):c.3915C>T:p.Thr1305=	coding	Benign
6	33679899	C	T	C33679899T	ITPR3	NM_002224.4(ITPR3):c.3990C>T:p.Asp1330=	coding	Benign
6	33680076	C	T	C33680076T	ITPR3	NM_002224.4(ITPR3):c.4167C>T:p.Ser1389=	coding	Benign
6	33680094	C	T	C33680094T	ITPR3	NM_002224.4(ITPR3):c.4185C>T:p.Asp1395=	coding	Benign
6	33680421	G	A	G33680421A	ITPR3	NM_002224.4(ITPR3):c.4317G>A:p.Thr1439=	coding	Benign
6	33682574	C	T	C33682574T	ITPR3	NM_002224.4(ITPR3):c.4527C>T:p.Leu1509=	coding	Benign
6	33682634	C	T	C33682634T	ITPR3	NM_002224.4(ITPR3):c.4587C>T:p.Leu1529=	coding	Benign
6	33684390	G	A	G33684390A	ITPR3	NM_002224.4(ITPR3):c.4971G>A:p.Ser1657=	coding	Benign
6	33685507	G	A	G33685507A	ITPR3	NM_002224.4(ITPR3):c.5456G>A:p.Arg1819His	coding	Benign
6	33686193	C	T	C33686193T	ITPR3	NM_002224.4(ITPR3):c.5808C>T:p.Leu1936=	coding	Benign
6	33686414	C	T	C33686414T	ITPR3	NM_002224.4(ITPR3):c.5874C>T:p.Cys1958=	coding	Benign
6	33689239	C	T	C33689239T	ITPR3	NM_002224.4(ITPR3):c.6696C>T:p.Gly2232=	coding	Benign
6	33691076	G	C	G33691076C	ITPR3	NM_002224.4(ITPR3):c.7192G>C:p.Glu2398Gln	coding	Benign
6	33691826	G	A	G33691826A	ITPR3	NM_002224.4(ITPR3):c.7356G>A:p.Glu2452=	coding	Benign
6	33692877	G	A	G33692877A	ITPR3	NM_002224.4(ITPR3):c.7608G>A:p.Thr2536=	coding	Benign
6	33697637	G	A	G33697637A	UQCC2	NM_032340.4(UQCC2):c.*16C>T	noncoding	Benign
6	33697681	T	C	T33697681C	UQCC2	NM_032340.4(UQCC2):c.353A>G:p.Lys118Arg	coding	Benign
6	33700188	G	T	G33700188T	UQCC2	NM_032340.4(UQCC2):c.283+256C>A	noncoding	Benign
6	33700261	G	A	G33700261A	UQCC2	NM_032340.4(UQCC2):c.283+183C>T	noncoding	Benign
6	33700502	G	T	G33700502T	UQCC2	NM_032340.4(UQCC2):c.225C>A:p.Pro75=	coding	Benign/Likely_benign
6	33700516	G	C	G33700516C	UQCC2	NM_032340.4(UQCC2):c.214-3C>G	noncoding	Pathogenic
6	33711462	C	A	C33711462A	UQCC2	NM_032340.4(UQCC2):c.138+87G>T	noncoding	Benign
6	33711564	C	T	C33711564T	UQCC2	NM_032340.4(UQCC2):c.123G>A:p.Glu41=	coding	Benign
6	33712030	A	G	A33712030G	UQCC2	NC_000006.12:g.33712030A>G	noncoding	Benign
6	33788448	G	C	G33788448C	LEMD2	NM_181336.4(LEMD2):c.669C>G:p.Leu223=	coding	Benign
6	33788655	G	A	G33788655A	LEMD2	NM_181336.4(LEMD2):c.462C>T:p.Gly154=	coding	Benign
6	33789079	A	C	A33789079C	LEMD2	NM_181336.4(LEMD2):c.38T>G:p.Leu13Arg	coding	Pathogenic
6	34022848	G	A	G34022848A	GRM4	NM_000841.4(GRM4):c.2712C>T:p.Tyr904=	coding	Benign
6	34028277	G	T	G34028277T	GRM4	NM_000841.4(GRM4):c.2532C>A:p.Ile844=	coding	Benign
6	34035806	G	A	G34035806A	GRM4	NM_000841.4(GRM4):c.2304C>T:p.Thr768=	coding	Benign
6	34035905	G	A	G34035905A	GRM4	NM_000841.4(GRM4):c.2205C>T:p.Leu735=	coding	Benign
6	34036133	C	T	C34036133T	GRM4	NM_000841.4(GRM4):c.1977G>A:p.Leu659=	coding	Benign
6	34036151	C	T	C34036151T	GRM4	NM_000841.4(GRM4):c.1959G>A:p.Ser653=	coding	Benign
6	34036397	C	T	C34036397T	GRM4	NM_000841.4(GRM4):c.1713G>A:p.Thr571=	coding	Benign
6	34040237	G	A	G34040237A	GRM4	NM_000841.4(GRM4):c.1447C>T:p.Arg483Cys	coding	Benign
6	34240837	C	T	C34240837T	HMGA1	NM_145899.3(HMGA1):c.57C>T:p.Asp19=	coding	Benign
6	34417463	T	C	T34417463C	RPS10	NM_001014.5(RPS10):c.*43A>G	coding	Benign
6	34418388	G	A	G34418388A	RPS10	NM_001014.5(RPS10):c.437C>T:p.Ser146Leu	coding	Benign
6	34418393	A	C	A34418393C	RPS10	NM_001014.5(RPS10):c.432T>G:p.Ala144=	coding	Benign
6	34418417	G	A	G34418417A	RPS10	NM_001014.5(RPS10):c.408C>T:p.Ala136=	coding	Benign
6	34418433	T	C	T34418433C	RPS10	NM_001014.5(RPS10):c.401-9A>G	noncoding	Benign
6	34418442	G	A	G34418442A	RPS10	NM_001014.5(RPS10):c.401-18C>T	noncoding	Benign
6	34421793	G	A	G34421793A	RPS10	NM_001014.5(RPS10):c.337C>T:p.Arg113Ter	coding	Pathogenic
6	34424760	C	T	C34424760T	RPS10	NM_001014.5(RPS10):c.231G>A:p.Gln77=	coding	Benign
6	34425216	C	T	C34425216T	RPS10	NM_001014.5(RPS10):c.6G>A:p.Leu2=	coding	Benign/Likely_benign
6	34425219	C	T	C34425219T	RPS10	NM_001014.5(RPS10):c.3G>A:p.Met1Ile	coding	Pathogenic
6	34425224	G	C	G34425224C	RPS10	NM_001014.5(RPS10):c.1-3C>G	noncoding	Benign
6	34425814	T	G	T34425814G	RPS10	NM_001014.5(RPS10):c.-1+218A>C	noncoding	Benign
6	34426045	G	A	G34426045A	RPS10	NM_001014.5(RPS10):c.-14C>T	noncoding	Benign
6	34426052	G	C	G34426052C	RPS10	NM_001014.5(RPS10):c.-21C>G	noncoding	Benign
6	34426060	G	A	G34426060A	RPS10	NM_001014.5(RPS10):c.-29C>T	noncoding	Benign
6	34426068	G	A	G34426068A	RPS10	NM_001014.5(RPS10):c.-37C>T	noncoding	Benign
6	34426089	G	A	G34426089A	RPS10	NM_001202470.2(RPS10-NUDT3):c.-58C>T	noncoding	Benign
6	34541114	C	G	C34541114G	SPDEF	NM_012391.3(SPDEF):c.504G>C:p.Leu168=	coding	Benign
6	34544312	G	A	G34544312A	SPDEF	NM_012391.3(SPDEF):c.144C>T:p.Pro48=	coding	Benign
6	34834333	G	T	G34834333T	UHRF1BP1	NM_017754.4(UHRF1BP1):c.455G>T:p.Gly152Val	coding	Benign
6	34858835	C	T	C34858835T	UHRF1BP1	NM_017754.4(UHRF1BP1):c.2479C>T:p.Arg827Cys	coding	Benign
6	34871867	G	A	G34871867A	UHRF1BP1	NM_017754.4(UHRF1BP1):c.4139G>A:p.Arg1380Lys	coding	Benign
6	34994416	A	G	A34994416G	ANKS1A	NM_015245.3(ANKS1A):c.1417A>G:p.Thr473Ala	coding	Benign
6	35017781	C	G	C35017781G	ANKS1A	NM_015245.3(ANKS1A):c.1732C>G:p.Arg578Gly	coding	Benign
6	35017939	C	T	C35017939T	ANKS1A	NM_015245.3(ANKS1A):c.1890C>T:p.Leu630=	coding	Benign
6	35079811	C	T	C35079811T	ANKS1A	NM_015245.3(ANKS1A):c.2437-10C>T	noncoding	Benign
6	35082816	T	C	T35082816C	ANKS1A	NM_015245.3(ANKS1A):c.2835T>C:p.Asn945=	coding	Benign
6	35085918	C	T	C35085918T	ANKS1A	NM_015245.3(ANKS1A):c.3285C>T:p.Val1095=	coding	Benign
6	35231868	A	G	A35231868G	SCUBE3	NM_152753.4(SCUBE3):c.469+9A>G	noncoding	Benign
6	35233280	A	G	A35233280G	SCUBE3	NM_152753.4(SCUBE3):c.691A>G:p.Thr231Ala	coding	Benign
6	35241576	C	T	C35241576T	SCUBE3	NM_152753.4(SCUBE3):c.1229C>T:p.Ser410Leu	coding	Benign
6	35243221	G	A	G35243221A	SCUBE3	NM_152753.4(SCUBE3):c.1894G>A:p.Ala632Thr	coding	Benign
6	35312406	C	T	C35312406T	DEF6	NM_022047.4(DEF6):c.528C>T:p.Thr176=	coding	Benign
6	35321247	G	A	G35321247A	DEF6	NM_022047.4(DEF6):c.1733G>A:p.Arg578His	coding	Benign
6	35321376	A	C	A35321376C	DEF6	NM_022047.4(DEF6):c.1862A>C:p.Gln621Pro	coding	Benign
6	35452636	C	T	C35452636T	FANCE	NM_021922.3(FANCE):c.91C>T:p.Gln31Ter	coding	Pathogenic
6	35452794	G	A	G35452794A	FANCE	NM_021922.3(FANCE):c.248+1G>A	coding	Pathogenic
6	35452800	C	A	C35452800A	FANCE	NM_021922.2(FANCE):c.248+7C>A	noncoding	Benign
6	35455712	A	G	A35455712G	FANCE	NM_021922.2(FANCE):c.249-35A>G	noncoding	Benign
6	35455764	G	T	G35455764T	FANCE	NM_021922.2(FANCE):c.266G>T:p.Arg89Leu	coding	Benign/Likely_benign
6	35455853	C	T	C35455853T	FANCE	NM_021922.2(FANCE):c.355C>T:p.Gln119Ter	coding	Pathogenic
6	35455885	A	C	A35455885C	FANCE	NM_021922.2(FANCE):c.387A>C:p.Pro129=	coding	Benign
6	35455919	C	T	C35455919T	FANCE	NM_021922.2(FANCE):c.421C>T:p.Arg141Ter	coding	Pathogenic
6	35456109	C	T	C35456109T	FANCE	NM_021922.2(FANCE):c.611C>T:p.Ser204Leu	coding	Benign
6	35457639	A	G	A35457639G	FANCE	NM_021922.2(FANCE):c.900+39A>G	noncoding	Benign
6	35457955	C	T	C35457955T	FANCE	NM_021922.3(FANCE):c.940C>T:p.Gln314Ter	coding	Pathogenic
6	35457982	C	T	C35457982T	FANCE	NM_021922.3(FANCE):c.967C>T:p.Gln323Ter	coding	Pathogenic
6	35458355	G	A	G35458355A	FANCE	NM_021922.2(FANCE):c.1028G>A:p.Arg343Gln	coding	Benign
6	35458398	C	T	C35458398T	FANCE	NM_021922.2(FANCE):c.1071C>T:p.Leu357=	coding	Benign
6	35459779	G	A	G35459779A	FANCE	NM_021922.2(FANCE):c.1316+19G>A	noncoding	Benign
6	35460568	C	T	C35460568T	FANCE	NM_021922.3(FANCE):c.1333C>T	coding	Benign/Likely_benign
6	35462909	G	A	G35462909A	FANCE	NM_021922.2(FANCE):c.1504G>A:p.Ala502Thr	coding	Benign
6	35466243	G	A	G35466243A	FANCE	NM_021922.3(FANCE):c.1510-1G>A	noncoding	Pathogenic
6	35466306	G	A	G35466306A	FANCE	NM_021922.2(FANCE):c.1572G>A:p.Arg524=	coding	Benign/Likely_benign
6	35466496	A	G	A35466496G	FANCE	NM_021922.2(FANCE):c.*151A>G	noncoding	Benign
6	35498009	A	C	A35498009C	TULP1	NM_003322.6(TULP1):c.*318T>G	noncoding	Benign
6	35498059	G	T	G35498059T	TULP1	NM_003322.6(TULP1):c.*268C>A	noncoding	Benign
6	35498396	G	T	G35498396T	TULP1	NM_003322.6(TULP1):c.1560C>A:p.Tyr520Ter	coding	Pathogenic
6	35498433	C	T	C35498433T	TULP1	NM_003322.6(TULP1):c.1523G>A:p.Arg508His	coding	Pathogenic
6	35499980	C	T	C35499980T	TULP1	NM_003322.6(TULP1):c.1495+1G>A	noncoding	Pathogenic
6	35500005	A	G	A35500005G	TULP1	NM_003322.6(TULP1):c.1471T>C:p.Phe491Leu	coding	Pathogenic/Likely_pathogenic
6	35500032	G	A	G35500032A	TULP1	NM_003322.6(TULP1):c.1444C>T:p.Arg482Trp	coding	Pathogenic
6	35500098	C	A	C35500098A	TULP1	NM_003322.6(TULP1):c.1378G>T:p.Glu460Ter	coding	Pathogenic
6	35500100	A	T	A35500100T	TULP1	NM_003322.6(TULP1):c.1376T>A:p.Ile459Lys	coding	Pathogenic
6	35500127	C	T	C35500127T	TULP1	NM_003322.6(TULP1):c.1349G>A:p.Trp450Ter	coding	Pathogenic
6	35503581	C	T	C35503581T	TULP1	NM_003322.6(TULP1):c.1301G>A:p.Arg434Lys	coding	Pathogenic
6	35503614	A	G	A35503614G	TULP1	NM_003322.6(TULP1):c.1268T>C:p.Val423Ala	coding	Pathogenic/Likely_pathogenic
6	35503623	C	G	C35503623G	TULP1	NM_003322.6(TULP1):c.1259G>C:p.Arg420Pro	coding	Pathogenic
6	35503626	C	T	C35503626T	TULP1	NM_003322.6(TULP1):c.1256G>A:p.Arg419Gln	coding	Pathogenic/Likely_pathogenic
6	35503757	C	A	C35503757A	TULP1	NM_003322.6(TULP1):c.1204G>T:p.Glu402Ter	coding	Pathogenic
6	35503760	G	A	G35503760A	TULP1	NM_003322.6(TULP1):c.1201C>T:p.Gln401Ter	coding	Pathogenic
6	35503763	G	A	G35503763A	TULP1	NM_003322.6(TULP1):c.1198C>T:p.Arg400Trp	coding	Pathogenic
6	35503816	A	G	A35503816G	TULP1	NM_003322.6(TULP1):c.1145T>C:p.Phe382Ser	coding	Pathogenic
6	35505751	C	A	C35505751A	TULP1	NM_003322.6(TULP1):c.1102G>T:p.Gly368Trp	coding	Pathogenic
6	35505806	A	C	A35505806C	TULP1	NM_003322.6(TULP1):c.1047T>G:p.Asn349Lys	coding	Pathogenic
6	35506101	G	A	G35506101A	TULP1	NM_003322.6(TULP1):c.901C>T:p.Gln301Ter	coding	Pathogenic
6	35509248	C	G	C35509248G	TULP1	NM_003322.6(TULP1):c.783G>C:p.Lys261Asn	coding	Benign
6	35509255	A	G	A35509255G	TULP1	NM_003322.6(TULP1):c.776T>C:p.Ile259Thr	coding	Benign
6	35509632	A	G	A35509632G	TULP1	NM_003322.6(TULP1):c.718+2T>C	noncoding	Pathogenic
6	35509723	G	C	G35509723C	TULP1	NM_003322.6(TULP1):c.629C>G:p.Ser210Ter	coding	Pathogenic
6	35509860	C	A	C35509860A	TULP1	NM_003322.6(TULP1):c.568G>T:p.Glu190Ter	coding	Pathogenic
6	35511759	G	A	G35511759A	TULP1	NM_003322.6(TULP1):c.238C>T:p.Gln80Ter	coding	Pathogenic
6	35511797	G	C	G35511797C	TULP1	NM_003322.6(TULP1):c.200C>G:p.Thr67Arg	coding	Benign
6	35512621	C	T	C35512621T	TULP1	NM_003322.6(TULP1):c.99+18G>A	noncoding	Benign
6	35512638	C	T	C35512638T	TULP1	NM_003322.6(TULP1):c.99+1G>A	noncoding	Pathogenic
6	35642813	A	G	A35642813G	FKBP5	NM_004117.3(FKBP5):c.12T>C:p.Asp4=	coding	Benign
6	35795788	C	T	C35795788T	CLPS	NM_001832.4(CLPS):c.150G>A:p.Ala50=	coding	Benign
6	35805671	A	G	A35805671G	LHFPL5	NM_182548.4(LHFPL5):c.1A>G:p.Met1Val	coding	Pathogenic
6	35806050	A	G	A35806050G	LHFPL5	NM_182548.4(LHFPL5):c.380A>G:p.Tyr127Cys	coding	Pathogenic
6	35814585	G	T	G35814585T	LHFPL5	NM_182548.4(LHFPL5):c.452G>T:p.Gly151Val	coding	Pathogenic
6	35814627	C	T	C35814627T	LHFPL5	NM_182548.4(LHFPL5):c.494C>T:p.Thr165Met	coding	Pathogenic
6	35814708	T	C	T35814708C	LHFPL5	NM_182548.4(LHFPL5):c.575T>C:p.Leu192Pro	coding	Pathogenic
6	35823310	G	A	G35823310A	LHFPL5	NM_182548.4(LHFPL5):c.*345G>A	noncoding	Benign
6	35823388	T	C	T35823388C	LHFPL5	NM_182548.4(LHFPL5):c.*423T>C	noncoding	Benign
6	35823448	T	C	T35823448C	LHFPL5	NM_182548.4(LHFPL5):c.*483T>C	noncoding	Benign
6	35823477	A	T	A35823477T	LHFPL5	NM_182548.4(LHFPL5):c.*512A>T	noncoding	Benign
6	35823525	G	C	G35823525C	LHFPL5	NM_182548.4(LHFPL5):c.*560G>C	noncoding	Benign
6	35943953	G	A	G35943953A	SLC26A8	NM_052961.4(SLC26A8):c.2860C>T:p.Arg954Cys	coding	Pathogenic
6	35951188	C	T	C35951188T	SLC26A8	NM_052961.4(SLC26A8):c.2447G>A:p.Arg816Gln	coding	Benign
6	35951201	C	T	C35951201T	SLC26A8	NM_052961.4(SLC26A8):c.2434G>A:p.Glu812Lys	coding	Pathogenic
6	35951210	C	T	C35951210T	SLC26A8	NM_052961.4(SLC26A8):c.2425G>A:p.Asp809Asn	coding	Benign
6	35955482	G	A	G35955482A	SLC26A8	NM_052961.4(SLC26A8):c.1902C>T:p.Pro634=	coding	Benign
6	35959590	A	G	A35959590G	SLC26A8	NM_052961.4(SLC26A8):c.1733T>C:p.Val578Ala	coding	Benign
6	35959706	G	C	G35959706C	SLC26A8	NM_052961.4(SLC26A8):c.1731+8C>G	noncoding	Benign
6	35975492	T	C	T35975492C	SLC26A8	NM_052961.4(SLC26A8):c.1174-4A>G	noncoding	Benign
6	35997810	G	A	G35997810A	SLC26A8	NM_052961.4(SLC26A8):c.555C>T:p.Pro185=	coding	Benign
6	36012301	C	T	C36012301T	SLC26A8	NM_052961.4(SLC26A8):c.260G>A:p.Arg87Gln	coding	Pathogenic
6	36019648	T	C	T36019648C	SLC26A8	NM_052961.4(SLC26A8):c.60A>G:p.Ser20=	coding	Benign
6	36107549	C	T	C36107549T	MAPK14	NM_001315.2(MAPK14):c.936C>T:p.His312=	coding	Benign
6	36131273	C	T	C36131273T	MAPK13	NM_002754.5(MAPK13):c.122C>T:p.Ser41Leu	coding	Benign
6	36135780	G	A	G36135780A	MAPK13	NM_002754.5(MAPK13):c.336G>A:p.Thr112=	coding	Benign
6	36136653	T	C	T36136653C	MAPK13	NM_002754.5(MAPK13):c.496-3T>C	noncoding	Benign
6	36270551	C	A	C36270551A	PNPLA1	NM_173676.2(PNPLA1):c.-80-20769C>A	coding	Pathogenic
6	36270559	G	A	G36270559A	PNPLA1	NM_173676.2(PNPLA1):c.-80-20761G>A	coding	Pathogenic
6	36270616	T	C	T36270616C	PNPLA1	NM_173676.2(PNPLA1):c.-80-20704T>C	coding	Pathogenic
6	36270617	C	G	C36270617G	PNPLA1	NM_173676.2(PNPLA1):c.-80-20703C>G	coding	Pathogenic
6	36270635	C	T	C36270635T	PNPLA1	NM_173676.2(PNPLA1):c.-80-20685C>T	coding	Pathogenic
6	36291449	C	A	C36291449A	PNPLA1	NM_173676.2(PNPLA1):c.50C>A:p.Ser17Tyr	coding	Pathogenic/Likely_pathogenic
6	36291476	A	C	A36291476C	PNPLA1	NM_173676.2(PNPLA1):c.77A>C:p.His26Pro	coding	Pathogenic
6	36291501	C	A	C36291501A	PNPLA1	NM_173676.2(PNPLA1):c.102C>A:p.Asp34Glu	coding	Pathogenic
6	36291505	G	T	G36291505T	PNPLA1	NM_173676.2(PNPLA1):c.106G>T:p.Glu36Ter	coding	Pathogenic
6	36291531	G	A	G36291531A	PNPLA1	NM_173676.2(PNPLA1):c.132G>A:p.Thr44=	coding	Benign
6	36291532	T	C	T36291532C	PNPLA1	NM_173676.2(PNPLA1):c.133T>C:p.Ser45Pro	coding	Pathogenic/Likely_pathogenic
6	36291535	A	G	A36291535G	PNPLA1	NM_173676.2(PNPLA1):c.136A>G:p.Lys46Glu	coding	Pathogenic
6	36293070	T	C	T36293070C	PNPLA1	NM_173676.2(PNPLA1):c.163T>C:p.Cys55Arg	coding	Pathogenic
6	36293081	C	T	C36293081T	PNPLA1	NM_173676.2(PNPLA1):c.174C>T:p.Phe58=	coding	Benign
6	36293086	C	T	C36293086T	PNPLA1	NM_173676.2(PNPLA1):c.179C>T:p.Pro60Leu	coding	Pathogenic
6	36293137	C	T	C36293137T	PNPLA1	NM_173676.2(PNPLA1):c.219+11C>T	noncoding	Benign
6	36294199	G	A	G36294199A	PNPLA1	NM_173676.2(PNPLA1):c.229G>A:p.Asp77Asn	coding	Pathogenic
6	36294222	G	A	G36294222A	PNPLA1	NM_173676.2(PNPLA1):c.252G>A:p.Gln84=	coding	Benign/Likely_benign
6	36294312	C	T	C36294312T	PNPLA1	NM_173676.2(PNPLA1):c.342C>T:p.His114=	coding	Benign/Likely_benign
6	36294376	G	A	G36294376A	PNPLA1	NM_173676.2(PNPLA1):c.406G>A:p.Ala136Thr	coding	Benign
6	36294389	C	T	C36294389T	PNPLA1	NM_173676.2(PNPLA1):c.419C>T:p.Pro140Leu	coding	Pathogenic
6	36295355	C	T	C36295355T	PNPLA1	NM_173676.2(PNPLA1):c.430-9C>T	noncoding	Benign
6	36295372	C	T	C36295372T	PNPLA1	NM_173676.2(PNPLA1):c.438C>T:p.His146=	coding	Benign
6	36301948	A	G	A36301948G	PNPLA1	NM_173676.2(PNPLA1):c.578A>G:p.Glu193Gly	coding	Benign
6	36302070	T	C	T36302070C	PNPLA1	NM_173676.2(PNPLA1):c.700T>C:p.Ser234Pro	coding	Benign
6	36302251	T	C	T36302251C	PNPLA1	NM_173676.2(PNPLA1):c.881T>C:p.Leu294Pro	coding	Benign
6	36302353	C	A	C36302353A	PNPLA1	NM_173676.2(PNPLA1):c.983C>A:p.Pro328His	coding	Benign
6	36306371	T	A	T36306371A	PNPLA1	NM_173676.2(PNPLA1):c.1179T>A:p.Tyr393Ter	coding	Benign/Likely_benign
6	36306376	C	T	C36306376T	PNPLA1	NM_173676.2(PNPLA1):c.1184C>T:p.Thr395Met	coding	Benign
6	36307681	T	C	T36307681C	PNPLA1	NM_173676.2(PNPLA1):c.1279T>C:p.Ser427Pro	coding	Benign
6	36307695	A	C	A36307695C	PNPLA1	NM_173676.2(PNPLA1):c.1293A>C:p.Lys431Asn	coding	Benign
6	36308052	A	G	A36308052G	PNPLA1	NM_173676.2(PNPLA1):c.*336A>G	noncoding	Benign
6	36308365	G	A	G36308365A	PNPLA1	NM_173676.2(PNPLA1):c.*649G>A	noncoding	Benign
6	36369026	G	A	G36369026A	ETV7	NM_016135.4(ETV7):c.710C>T:p.Thr237Ile	coding	Benign
6	36371364	C	T	C36371364T	ETV7	NM_016135.4(ETV7):c.630G>A:p.Ala210=	coding	Benign
6	36497788	T	C	T36497788C	STK38	NM_007271.4(STK38):c.1164A>G:p.Glu388=	coding	Benign
6	36524406	T	G	T36524406G	STK38	NM_007271.4(STK38):c.241A>C:p.Arg81=	coding	Benign
6	36684112	C	T	C36684112T	CDKN1A	NM_000389.5(CDKN1A):c.11C>T:p.Pro4Leu	coding	Benign
6	36684113	G	A	G36684113A	CDKN1A	NM_000389.5(CDKN1A):c.12G>A:p.Pro4=	coding	Benign
6	36684194	C	A	C36684194A	CDKN1A	NM_000389.5(CDKN1A):c.93C>A:p.Ser31Arg	coding	Benign
6	36742292	C	A	C36742292A	CPNE5	NM_020939.2(CPNE5):c.1758G>T:p.Ala586=	coding	Benign
6	36745147	A	C	A36745147C	CPNE5	NM_020939.2(CPNE5):c.1332T>G:p.Asn444Lys	coding	Benign
6	36745524	C	T	C36745524T	CPNE5	NM_020939.2(CPNE5):c.1201-9G>A	noncoding	Benign
6	36774990	C	T	C36774990T	CPNE5	NM_020939.2(CPNE5):c.708G>A:p.Val236=	coding	Benign
6	36792051	C	T	C36792051T	CPNE5	NM_020939.2(CPNE5):c.510G>A:p.Glu170=	coding	Benign
6	36798502	G	A	G36798502A	CPNE5	NM_020939.2(CPNE5):c.288-8C>T	noncoding	Benign
6	37008873	C	A	C37008873A	FGD2	NM_173558.4(FGD2):c.108C>A:p.Asp36Glu	coding	Benign
6	37008878	A	G	A37008878G	FGD2	NM_173558.4(FGD2):c.113A>G:p.His38Arg	coding	Benign
6	37008946	G	A	G37008946A	FGD2	NM_173558.4(FGD2):c.181G>A:p.Val61Met	coding	Benign
6	37013723	C	T	C37013723T	FGD2	NM_173558.4(FGD2):c.642C>T:p.Thr214=	coding	Benign
6	37013976	G	A	G37013976A	FGD2	NM_173558.4(FGD2):c.699G>A:p.Ser233=	coding	Benign
6	37022253	G	C	G37022253C	FGD2	NM_173558.4(FGD2):c.1341G>C:p.Glu447Asp	coding	Benign
6	37025839	C	T	C37025839T	FGD2	NM_173558.4(FGD2):c.1506C>T:p.Asp502=	coding	Benign
6	37025923	G	A	G37025923A	FGD2	NM_173558.4(FGD2):c.1590G>A:p.Arg530=	coding	Benign
6	37170529	G	A	G37170529A	PIM1	NM_002648.4(PIM1):c.-47G>A	coding	Benign
6	37173123	C	T	C37173123T	PIM1	NM_002648.4(PIM1):c.735C>T:p.Asp245=	coding	Benign
6	37218560	C	T	C37218560T	TMEM217	NM_145316.4(TMEM217):c.471G>A:p.Arg157=	coding	Benign
6	37218737	A	G	A37218737G	TMEM217	NM_145316.4(TMEM217):c.294T>C:p.Ile98=	coding	Benign
6	37218917	C	T	C37218917T	TMEM217	NM_145316.4(TMEM217):c.114G>A:p.Gly38=	coding	Benign
6	37360582	A	G	A37360582G	RNF8	NM_003958.4(RNF8):c.240+8A>G	noncoding	Benign
6	37638260	A	G	A37638260G	MDGA1	NM_153487.4(MDGA1):c.2721T>C:p.Asp907=	coding	Benign
6	37638287	C	A	C37638287A	MDGA1	NM_153487.4(MDGA1):c.2694G>T:p.Pro898=	coding	Benign
6	37646268	C	G	C37646268G	MDGA1	NM_153487.4(MDGA1):c.2154G>C:p.Glu718Asp	coding	Benign
6	37650116	G	A	G37650116A	MDGA1	NM_153487.4(MDGA1):c.1602C>T:p.Asn534=	coding	Benign
6	38592673	C	T	C38592673T	BTBD9	NM_001099272.2(BTBD9):c.717G>A:p.Val239=	coding	Benign
6	38723062	C	T	C38723062T	DNAH8	NM_001206927.2(DNAH8):c.253C>T:p.Arg85Ter	coding	Pathogenic
6	38723079	G	C	G38723079C	DNAH8	NM_001206927.2(DNAH8):c.270G>C:p.Pro90=	coding	Benign
6	38734482	C	T	C38734482T	DNAH8	NM_001206927.2(DNAH8):c.619C>T:p.Arg207Ter	coding	Pathogenic
6	38734587	C	T	C38734587T	DNAH8	NM_001206927.2(DNAH8):c.724C>T:p.Arg242Cys	coding	Benign
6	38737136	A	G	A38737136G	DNAH8	NM_001206927.2(DNAH8):c.832A>G:p.Ile278Val	coding	Benign
6	38737167	A	G	A38737167G	DNAH8	NM_001206927.2(DNAH8):c.863A>G:p.Asn288Ser	coding	Benign
6	38737906	C	T	C38737906T	DNAH8	NM_001206927.2(DNAH8):c.1050C>T:p.Ala350=	coding	Benign
6	38737951	A	G	A38737951G	DNAH8	NM_001206927.2(DNAH8):c.1095A>G:p.Val365=	coding	Benign
6	38737966	C	T	C38737966T	DNAH8	NM_001206927.2(DNAH8):c.1110C>T:p.Ile370=	coding	Benign
6	38761735	T	C	T38761735C	DNAH8	NM_001206927.2(DNAH8):c.1549T>C:p.Tyr517His	coding	Benign
6	38761806	T	G	T38761806G	DNAH8	NM_001206927.2(DNAH8):c.1617+3T>G	noncoding	Benign
6	38770561	T	C	T38770561C	DNAH8	NM_001206927.2(DNAH8):c.1764+2T>C	noncoding	Benign
6	38775849	A	C	A38775849C	DNAH8	NM_001206927.2(DNAH8):c.1860A>C:p.Ile620=	coding	Benign
6	38775873	A	G	A38775873G	DNAH8	NM_001206927.2(DNAH8):c.1884A>G:p.Gln628=	coding	Benign
6	38775909	C	T	C38775909T	DNAH8	NM_001206927.2(DNAH8):c.1920C>T:p.Asp640=	coding	Benign
6	38778400	G	A	G38778400A	DNAH8	NM_001206927.2(DNAH8):c.1975G>A:p.Ala659Thr	coding	Benign
6	38778462	A	G	A38778462G	DNAH8	NM_001206927.2(DNAH8):c.2037A>G:p.Gln679=	coding	Benign
6	38786778	G	A	G38786778A	DNAH8	NM_001206927.2(DNAH8):c.2409G>A:p.Thr803=	coding	Benign
6	38786895	G	A	G38786895A	DNAH8	NM_001206927.2(DNAH8):c.2526G>A:p.Gln842=	coding	Benign
6	38786918	A	G	A38786918G	DNAH8	NM_001206927.2(DNAH8):c.2549A>G:p.Glu850Gly	coding	Benign
6	38789839	G	A	G38789839A	DNAH8	NM_001206927.2(DNAH8):c.2620G>A:p.Val874Met	coding	Benign
6	38790323	T	A	T38790323A	DNAH8	NM_001206927.2(DNAH8):c.2699T>A:p.Leu900Ter	coding	Pathogenic
6	38790333	G	A	G38790333A	DNAH8	NM_001206927.2(DNAH8):c.2709G>A:p.Ser903=	coding	Benign
6	38803192	A	T	A38803192T	DNAH8	NM_001206927.2(DNAH8):c.2915A>T:p.Glu972Val	coding	Benign
6	38803320	T	C	T38803320C	DNAH8	NM_001206927.2(DNAH8):c.3034+9T>C	noncoding	Benign
6	38805477	A	G	A38805477G	DNAH8	NM_001206927.2(DNAH8):c.3035-4A>G	noncoding	Benign
6	38805517	G	A	G38805517A	DNAH8	NM_001206927.2(DNAH8):c.3071G>A:p.Gly1024Glu	coding	Benign
6	38814090	C	A	C38814090A	DNAH8	NM_001206927.2(DNAH8):c.3294C>A:p.Ser1098=	coding	Benign
6	38814090	C	G	C38814090G	DNAH8	NM_001206927.2(DNAH8):c.3294C>G:p.Ser1098=	coding	Benign
6	38815553	A	G	A38815553G	DNAH8	NM_001206927.2(DNAH8):c.3419A>G:p.His1140Arg	coding	Benign
6	38815645	A	T	A38815645T	DNAH8	NM_001206927.2(DNAH8):c.3511A>T:p.Lys1171Ter	coding	Pathogenic
6	38822896	G	A	G38822896A	DNAH8	NM_001206927.2(DNAH8):c.3582G>A:p.Ala1194=	coding	Benign
6	38823628	G	T	G38823628T	DNAH8	NM_001206927.2(DNAH8):c.3787G>T:p.Glu1263Ter	coding	Pathogenic
6	38828180	G	T	G38828180T	DNAH8	NM_001206927.2(DNAH8):c.4084-4G>T	noncoding	Benign
6	38832398	G	A	G38832398A	DNAH8	NM_001206927.2(DNAH8):c.4265G>A:p.Arg1422His	coding	Benign
6	38832433	T	C	T38832433C	DNAH8	NM_001206927.2(DNAH8):c.4300T>C:p.Leu1434=	coding	Benign
6	38837959	G	A	G38837959A	DNAH8	NM_001206927.2(DNAH8):c.4383G>A:p.Leu1461=	coding	Benign
6	38837977	G	A	G38837977A	DNAH8	NM_001206927.2(DNAH8):c.4401G>A:p.Thr1467=	coding	Benign
6	38838025	G	A	G38838025A	DNAH8	NM_001206927.2(DNAH8):c.4449G>A:p.Glu1483=	coding	Benign
6	38845609	C	T	C38845609T	DNAH8	NM_001206927.2(DNAH8):c.4881C>T:p.Ile1627=	coding	Benign
6	38845636	G	T	G38845636T	DNAH8	NM_001206927.2(DNAH8):c.4908G>T:p.Glu1636Asp	coding	Benign
6	38848729	C	T	C38848729T	DNAH8	NM_001206927.2(DNAH8):c.5127C>T:p.Leu1709=	coding	Benign
6	38848798	T	C	T38848798C	DNAH8	NM_001206927.2(DNAH8):c.5196T>C:p.Pro1732=	coding	Benign
6	38851567	T	G	T38851567G	DNAH8	NM_001206927.2(DNAH8):c.5364-5T>G	noncoding	Benign
6	38852717	C	A	C38852717A	DNAH8	NM_001206927.2(DNAH8):c.5490C>A:p.Asp1830Glu	coding	Benign
6	38852768	C	T	C38852768T	DNAH8	NM_001206927.2(DNAH8):c.5541C>T:p.Ala1847=	coding	Benign
6	38853315	C	T	C38853315T	DNAH8	NM_001206927.2(DNAH8):c.5701C>T:p.Leu1901Phe	coding	Benign
6	38857553	C	T	C38857553T	DNAH8	NM_001206927.2(DNAH8):c.5769C>T:p.His1923=	coding	Benign
6	38866872	A	G	A38866872G	DNAH8	NM_001206927.2(DNAH8):c.6689A>G:p.Lys2230Arg	coding	Pathogenic
6	38870538	A	T	A38870538T	DNAH8	NM_001206927.2(DNAH8):c.6966A>T:p.Pro2322=	coding	Benign
6	38872716	G	T	G38872716T	DNAH8	NM_001206927.2(DNAH8):c.7171G>T:p.Ala2391Ser	coding	Benign
6	38873307	T	C	T38873307C	DNAH8	NM_001206927.2(DNAH8):c.7551T>C:p.Asp2517=	coding	Benign
6	38873325	G	A	G38873325A	DNAH8	NM_001206927.2(DNAH8):c.7569G>A:p.Lys2523=	coding	Benign
6	38875650	C	T	C38875650T	DNAH8	NM_001206927.2(DNAH8):c.7680C>T:p.Val2560=	coding	Benign
6	38882917	G	A	G38882917A	DNAH8	NM_001206927.2(DNAH8):c.7866G>A:p.Trp2622Ter	coding	Pathogenic
6	38883033	C	A	C38883033A	DNAH8	NM_001206927.2(DNAH8):c.7982C>A:p.Thr2661Asn	coding	Benign
6	38883408	A	G	A38883408G	DNAH8	NM_001206927.2(DNAH8):c.8088A>G:p.Leu2696=	coding	Benign
6	38883893	C	T	C38883893T	DNAH8	NM_001206927.2(DNAH8):c.8154C>T:p.Tyr2718=	coding	Benign
6	38884004	G	A	G38884004A	DNAH8	NM_001206927.2(DNAH8):c.8259+6G>A	noncoding	Benign
6	38886869	A	G	A38886869G	DNAH8	NM_001206927.2(DNAH8):c.8338A>G:p.Ile2780Val	coding	Benign
6	38886870	T	C	T38886870C	DNAH8	NM_001206927.2(DNAH8):c.8339T>C:p.Ile2780Thr	coding	Benign
6	38890702	A	G	A38890702G	DNAH8	NM_001206927.2(DNAH8):c.8524A>G:p.Ile2842Val	coding	Benign
6	38894749	C	T	C38894749T	DNAH8	NM_001206927.2(DNAH8):c.8632C>T:p.Arg2878Ter	coding	Pathogenic
6	38894841	G	A	G38894841A	DNAH8	NM_001206927.2(DNAH8):c.8724G>A:p.Glu2908=	coding	Benign
6	38899791	C	T	C38899791T	DNAH8	NM_001206927.2(DNAH8):c.9079C>T:p.Arg3027Ter	coding	Pathogenic
6	38906363	G	T	G38906363T	DNAH8	NM_001206927.2(DNAH8):c.9304G>T:p.Glu3102Ter	coding	Pathogenic
6	38911475	C	T	C38911475T	DNAH8	NM_001206927.2(DNAH8):c.9748C>T:p.Arg3250Ter	coding	Pathogenic
6	38913932	G	A	G38913932A	DNAH8	NM_001206927.2(DNAH8):c.9943G>A:p.Ala3315Thr	coding	Benign
6	38915224	C	T	C38915224T	DNAH8	NM_001206927.2(DNAH8):c.9987C>T:p.Ser3329=	coding	Benign
6	38917271	G	A	G38917271A	DNAH8	NM_001206927.2(DNAH8):c.10173G>A:p.Arg3391=	coding	Benign
6	38917277	T	G	T38917277G	DNAH8	NM_001206927.2(DNAH8):c.10179T>G:p.Leu3393=	coding	Benign
6	38917388	A	G	A38917388G	DNAH8	NM_001206927.2(DNAH8):c.10290A>G:p.Ser3430=	coding	Benign
6	38917951	G	A	G38917951A	DNAH8	NM_001206927.2(DNAH8):c.10335G>A:p.Trp3445Ter	coding	Pathogenic
6	38921435	C	T	C38921435T	DNAH8	NM_001206927.2(DNAH8):c.10591C>T:p.Leu3531=	coding	Benign
6	38924018	G	A	G38924018A	DNAH8	NM_001206927.2(DNAH8):c.10818G>A:p.Thr3606=	coding	Benign
6	38929596	A	G	A38929596G	DNAH8	NM_001206927.2(DNAH8):c.11204A>G:p.His3735Arg	coding	Benign
6	38931867	T	A	T38931867A	DNAH8	NM_001206927.2(DNAH8):c.11331T>A:p.Thr3777=	coding	Benign
6	38931876	A	G	A38931876G	DNAH8	NM_001206927.2(DNAH8):c.11340A>G:p.Leu3780=	coding	Benign
6	38931897	A	G	A38931897G	DNAH8	NM_001206927.2(DNAH8):c.11361A>G:p.Pro3787=	coding	Benign
6	38935645	G	A	G38935645A	DNAH8	NM_001206927.2(DNAH8):c.11511G>A:p.Arg3837=	coding	Benign
6	38937990	C	T	C38937990T	DNAH8	NM_001206927.2(DNAH8):c.11580C>T:p.Asp3860=	coding	Benign
6	38938012	C	T	C38938012T	DNAH8	NM_001206927.2(DNAH8):c.11602C>T:p.Arg3868Ter	coding	Pathogenic
6	38938110	C	T	C38938110T	DNAH8	NM_001206927.2(DNAH8):c.11700C>T:p.Pro3900=	coding	Benign
6	38938181	C	T	C38938181T	DNAH8	NM_001206927.2(DNAH8):c.11771C>T:p.Thr3924Met	coding	Benign/Likely_benign
6	38938186	T	C	T38938186C	DNAH8	NM_001206927.2(DNAH8):c.11776T>C:p.Leu3926=	coding	Benign
6	38938791	G	A	G38938791A	DNAH8	NM_001206927.2(DNAH8):c.11817-7G>A	noncoding	Benign
6	38938834	A	G	A38938834G	DNAH8	NM_001206927.2(DNAH8):c.11853A>G:p.Thr3951=	coding	Benign
6	38938876	T	C	T38938876C	DNAH8	NM_001206927.2(DNAH8):c.11895T>C:p.Ser3965=	coding	Benign
6	38938978	T	C	T38938978C	DNAH8	NM_001206927.2(DNAH8):c.11997T>C:p.Ala3999=	coding	Benign
6	38949459	G	A	G38949459A	DNAH8	NM_001206927.2(DNAH8):c.12137G>A:p.Arg4046His	coding	Benign
6	38951333	C	T	C38951333T	DNAH8	NM_001206927.2(DNAH8):c.12264C>T:p.Asp4088=	coding	Benign
6	38951533	A	G	A38951533G	DNAH8	NM_001206927.2(DNAH8):c.12451+13A>G	noncoding	Benign
6	38973658	C	T	C38973658T	DNAH8	NM_001206927.2(DNAH8):c.12526-3C>T	noncoding	Benign
6	38973702	A	C	A38973702C	DNAH8	NM_001206927.2(DNAH8):c.12567A>C:p.Glu4189Asp	coding	Benign
6	38973726	G	A	G38973726A	DNAH8	NM_001206927.2(DNAH8):c.12591G>A:p.Thr4197=	coding	Benign
6	38984223	G	A	G38984223A	DNAH8	NM_001206927.2(DNAH8):c.12969G>A:p.Thr4323=	coding	Benign
6	38989995	T	C	T38989995C	DNAH8	NM_001206927.2(DNAH8):c.13054-17T>C	noncoding	Benign
6	38990077	A	G	A38990077G	DNAH8	NM_001206927.2(DNAH8):c.13119A>G:p.Leu4373=	coding	Benign
6	38990182	T	C	T38990182C	DNAH8	NM_001206927.2(DNAH8):c.13214+10T>C	noncoding	Benign
6	39008799	C	T	C39008799T	DNAH8	NM_001206927.2(DNAH8):c.13215-15C>T	noncoding	Benign
6	39012305	A	G	A39012305G	DNAH8	NM_001206927.2(DNAH8):c.13462A>G:p.Ile4488Val	coding	Benign
6	39012311	C	T	C39012311T	DNAH8	NM_001206927.2(DNAH8):c.13468C>T:p.Arg4490Cys	coding	Benign
6	39030368	G	T	G39030368T	DNAH8	NM_001206927.2(DNAH8):c.14100G>T:p.Val4700=	coding	Benign
6	39056449	G	A	G39056449A	GLP1R	NM_002062.5(GLP1R):c.131G>A:p.Arg44His	coding	Benign
6	39056462	C	G	C39056462G	GLP1R	NM_002062.5(GLP1R):c.144C>G:p.Arg48=	coding	Benign
6	39057533	G	A	G39057533A	GLP1R	NM_002062.5(GLP1R):c.237G>A:p.Ser79=	coding	Benign
6	39065724	C	T	C39065724T	GLP1R	NM_002062.5(GLP1R):c.297C>T:p.His99=	coding	Benign
6	39065754	C	T	C39065754T	GLP1R	NM_002062.5(GLP1R):c.327C>T:p.Leu109=	coding	Benign
6	39072917	C	T	C39072917T	GLP1R	NM_002062.5(GLP1R):c.565C>T:p.Leu189=	coding	Benign
6	39072925	A	G	A39072925G	GLP1R	NM_002062.5(GLP1R):c.573A>G:p.Ala191=	coding	Benign
6	39079642	C	T	C39079642T	GLP1R	NM_002062.5(GLP1R):c.1122C>T:p.His374=	coding	Benign
6	39191171	C	T	C39191171T	KCNK5	NM_003740.4(KCNK5):c.1219G>A:p.Ala407Thr	coding	Benign
6	39314140	C	T	C39314140T	KCNK17	NM_031460.4(KCNK17):c.181G>A:p.Glu61Lys	coding	Benign
6	39856354	G	A	G39856354A	DAAM2	NM_001201427.2(DAAM2):c.52G>A:p.Gly18Arg	coding	Benign
6	39867500	T	C	T39867500C	DAAM2	NM_001201427.2(DAAM2):c.429-10T>C	noncoding	Benign
6	39879350	C	T	C39879350T	DAAM2	NM_001201427.2(DAAM2):c.1718C>T:p.Pro573Leu	coding	Benign
6	39896988	C	T	C39896988T	DAAM2	NM_001201427.2(DAAM2):c.2510+8C>T	noncoding	Benign
6	39901805	G	A	G39901805A	DAAM2	NM_001201427.2(DAAM2):c.2983-8G>A	noncoding	Benign
6	39904429	G	C	G39904429C	MOCS1	NM_001358530.2(MOCS1):c.*1928C>G	noncoding	Benign
6	39904464	C	G	C39904464G	MOCS1	NM_001358530.2(MOCS1):c.*1893G>C	noncoding	Benign
6	39904728	C	A	C39904728A	MOCS1	NM_001358530.2(MOCS1):c.*1629G>T	noncoding	Benign
6	39904952	C	G	C39904952G	MOCS1	NM_001358530.2(MOCS1):c.*1405G>C	noncoding	Benign
6	39905023	T	G	T39905023G	MOCS1	NM_001358530.2(MOCS1):c.*1334A>C	noncoding	Benign
6	39905221	T	G	T39905221G	MOCS1	NM_001358530.2(MOCS1):c.*1136A>C	noncoding	Benign
6	39905244	A	C	A39905244C	MOCS1	NM_001358530.2(MOCS1):c.*1113T>G	noncoding	Benign
6	39905355	G	A	G39905355A	MOCS1	NM_001358530.2(MOCS1):c.*1002C>T	noncoding	Benign
6	39905370	G	A	G39905370A	MOCS1	NM_001358530.2(MOCS1):c.*987C>T	noncoding	Benign
6	39905533	G	C	G39905533C	MOCS1	NM_001358530.2(MOCS1):c.*824C>G	noncoding	Benign
6	39905623	G	C	G39905623C	MOCS1	NM_001358530.2(MOCS1):c.*734C>G	noncoding	Benign
6	39905779	G	A	G39905779A	MOCS1	NM_001358530.2(MOCS1):c.*578C>T	noncoding	Benign
6	39905906	G	A	G39905906A	MOCS1	NM_001358530.2(MOCS1):c.*451C>T	noncoding	Benign
6	39905979	C	T	C39905979T	MOCS1	NM_001358530.2(MOCS1):c.*378G>A	noncoding	Benign
6	39906468	G	A	G39906468A	MOCS1	NM_001358530.2(MOCS1):c.1800C>T:p.Ala600=	noncoding	Benign
6	39906553	C	T	C39906553T	MOCS1	NM_001358530.2(MOCS1):c.1715G>A:p.Arg572His	noncoding	Benign
6	39906913	C	A	C39906913A	MOCS1	NM_001358530.2(MOCS1):c.1355G>T:p.Arg452Leu	noncoding	Benign
6	39906952	C	T	C39906952T	MOCS1	NM_001358530.2(MOCS1):c.1316G>A:p.Arg439Gln	noncoding	Benign
6	39907056	C	G	C39907056G	MOCS1	NM_001358530.2(MOCS1):c.1212G>C:p.Pro404=	noncoding	Benign
6	39907099	G	T	G39907099T	MOCS1	NM_001358530.2(MOCS1):c.1169C>A:p.Pro390His	noncoding	Benign
6	39909834	C	T	C39909834T	MOCS1	NM_001358530.2(MOCS1):c.1102+1G>A	noncoding	Pathogenic
6	39912289	C	T	C39912289T	MOCS1	NM_001358530.2(MOCS1):c.956G>A:p.Arg319Gln	coding	Pathogenic
6	39913358	A	T	A39913358T	MOCS1	NM_001358530.2(MOCS1):c.716T>A:p.Leu239His	coding	Benign
6	39913376	G	A	G39913376A	MOCS1	NM_001358530.2(MOCS1):c.698C>T:p.Ala233Val	coding	Benign
6	39913765	C	G	C39913765G	MOCS1	NM_001358530.2(MOCS1):c.645+9G>C	noncoding	Benign
6	39916058	A	T	A39916058T	MOCS1	NM_001358530.2(MOCS1):c.583+10T>A	noncoding	Benign
6	39916062	G	A	G39916062A	MOCS1	NM_001358530.2(MOCS1):c.583+6C>T	noncoding	Benign
6	39925677	C	T	C39925677T	MOCS1	NM_001358530.2(MOCS1):c.418+1G>A	noncoding	Pathogenic
6	39925766	G	A	G39925766A	MOCS1	NM_001358530.2(MOCS1):c.330C>T:p.Leu110=	coding	Benign
6	39925843	G	A	G39925843A	MOCS1	NM_001358530.2(MOCS1):c.253C>T:p.Gln85Ter	coding	Pathogenic
6	39927362	G	A	G39927362A	MOCS1	NM_001358530.2(MOCS1):c.217C>T:p.Arg73Trp	coding	Pathogenic
6	39927671	T	C	T39927671C	MOCS1	NM_001358530.2(MOCS1):c.124-216A>G	coding	Benign
6	40392096	C	A	C40392096A	LRFN2	NM_020737.3(LRFN2):c.2217G>T:p.Pro739=	coding	Benign
6	41061791	T	C	T41061791C	APOBEC2	NM_006789.3(APOBEC2):c.595T>C:p.Ser199Pro	coding	Benign
6	41158691	C	T	C41158691T	TREM2	NM_018965.3(TREM2):c.*73G>A	coding	Benign/Likely_benign
6	41158734	C	T	C41158734T	TREM2	NM_018965.3(TREM2):c.*30G>A	coding	Benign
6	41158881	G	A	G41158881A	TREM2	NM_018965.4(TREM2):c.668C>T:p.Thr223Ile	coding	Benign/Likely_benign
6	41158917	A	G	A41158917G	TREM2	NM_018965.3(TREM2):c.632T>C:p.Leu211Pro	coding	Benign/Likely_benign
6	41159805	G	A	G41159805A	TREM2	NM_018965.3(TREM2):c.469C>T:p.His157Tyr	coding	Benign/Likely_benign
6	41161367	G	T	G41161367T	TREM2	NM_018965.3(TREM2):c.287C>A:p.Thr96Lys	coding	Benign/Likely_benign
6	41161457	G	A	G41161457A	TREM2	NM_018965.3(TREM2):c.197C>T:p.Thr66Met	coding	Pathogenic
6	41161541	T	C	T41161541C	TREM2	NM_018965.3(TREM2):c.113A>G:p.Tyr38Cys	coding	Pathogenic
6	41161557	G	A	G41161557A	TREM2	NM_018965.3(TREM2):c.97C>T:p.Gln33Ter	coding	Pathogenic
6	41163043	C	A	C41163043A	TREM2	NM_018965.3(TREM2):c.40G>T:p.Glu14Ter	coding	Pathogenic
6	41198416	G	C	G41198416C	TREML2	NM_024807.4(TREML2):c.69C>G:p.Asp23Glu	coding	Benign
6	41276188	G	C	G41276188C	TREM1	NM_018643.5(TREM1):c.642C>G:p.Phe214Leu	coding	Benign
6	41276197	A	G	A41276197G	TREM1	NM_018643.5(TREM1):c.633T>C:p.Ala211=	coding	Benign
6	41282397	T	G	T41282397G	TREM1	NM_018643.5(TREM1):c.404A>C:p.Lys135Thr	coding	Benign
6	41336093	A	G	A41336093G	NCR2	NM_004828.4(NCR2):c.59A>G:p.Gln20Arg	coding	Benign
6	41336401	G	A	G41336401A	NCR2	NM_004828.4(NCR2):c.367G>A:p.Val123Ile	coding	Benign
6	41350840	T	C	T41350840C	NCR2	NM_004828.4(NCR2):c.807T>C:p.Asp269=	coding	Benign
6	41585463	G	A	G41585463A	FOXP4	NM_001012426.1(FOXP4):c.456G>A:p.Gln152=	coding	Benign
6	41587474	C	T	C41587474T	FOXP4	NM_001012426.1(FOXP4):c.834C>T:p.Pro278=	coding	Benign
6	41589970	C	T	C41589970T	FOXP4	NM_001012426.1(FOXP4):c.1157C>T:p.Pro386Leu	coding	Benign
6	41597843	C	T	C41597843T	FOXP4	NM_001012426.1(FOXP4):c.1788C>T:p.Ser596=	coding	Benign
6	41597844	G	A	G41597844A	FOXP4	NM_001012426.1(FOXP4):c.1789G>A:p.Ala597Thr	coding	Benign
6	41649742	G	A	G41649742A	MDFI	NM_005586.4(MDFI):c.383G>A:p.Arg128Gln	coding	Benign
6	41691046	G	A	G41691046A	TFEB	NM_001271944.2(TFEB):c.168C>T:p.Pro56=	coding	Benign
6	41771866	G	A	G41771866A	FRS3	NM_006653.5(FRS3):c.514C>T:p.Pro172Ser	coding	Benign
6	41771904	G	A	G41771904A	FRS3	NM_006653.5(FRS3):c.476C>T:p.Ser159Leu	coding	Benign
6	41806602	G	T	G41806602T	USP49	NM_001286554.1(USP49):c.382C>A:p.Leu128Met	coding	Benign
6	41927455	C	T	C41927455T	BYSL	NM_004053.4(BYSL):c.350C>T:p.Ala117Val	coding	Benign
6	41936586	C	G	C41936586G	CCND3	NM_001760.5(CCND3):c.684G>C:p.Leu228=	coding	Benign
6	41940535	G	A	G41940535A	CCND3	NM_001760.5(CCND3):c.249C>T:p.Asn83=	coding	Benign
6	42077099	G	A	G42077099A	TAF8	NM_138572.3(TAF8):c.781-1G>A	noncoding	Pathogenic
6	42155579	A	C	A42155579C	GUCA1A;GUCA1ANB;LOC118142757	NM_001370581.1(GUCA1ANB):c.40A>C:p.Met14Leu	noncoding	Benign
6	42162912	C	T	C42162912T	GUCA1A;GUCA1ANB;LOC118142757	NM_001370581.1(GUCA1ANB):c.55-8C>T	noncoding	Benign
6	42173531	G	A	G42173531A	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.-83G>A	noncoding	Benign
6	42173588	A	G	A42173588G	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.-26A>G	noncoding	Benign
6	42173622	C	T	C42173622T	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.9C>T:p.Asn3=	coding	Benign/Likely_benign
6	42178343	G	A	G42178343A	GUCA1A;LOC118142757	NM_001384910.1(GUCA1A):c.265G>A:p.Glu89Lys	coding	Pathogenic
6	42178374	A	G	A42178374G	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.296A>G:p.Tyr99Cys	coding	Pathogenic
6	42178809	G	T	G42178809T	GUCA1A;LOC118142757	NM_000409.5(GUCA1A):c.359G>T:p.Arg120Leu	coding	Pathogenic
6	42178893	A	C	A42178893C	LOC118142757	NM_000409.4(GUCA1A):c.443A>C:p.Asp148Ala	coding	Pathogenic/Likely_pathogenic
6	42179248	C	T	C42179248T	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.451C>T:p.Leu151Phe	coding	Pathogenic
6	42179261	A	G	A42179261G	GUCA1A;LOC118142757	NM_000409.5(GUCA1A):c.464A>G:p.Glu155Gly	coding	Pathogenic
6	42179364	C	T	C42179364T	GUCA1A;GUCA1B;LOC118142757	NM_000409.4(GUCA1A):c.567C>T:p.Asp189=	coding	Benign/Likely_benign
6	42179882	C	T	C42179882T	GUCA1A;GUCA1B;LOC118142757	NM_000409.4(GUCA1A):c.*479C>T	noncoding	Benign/Likely_benign
6	42183497	C	T	C42183497T	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*1318G>A	noncoding	Benign/Likely_benign
6	42183612	A	G	A42183612G	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*1203T>C	noncoding	Benign/Likely_benign
6	42183689	T	C	T42183689C	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*1126A>G	noncoding	Benign/Likely_benign
6	42183727	C	G	C42183727G	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*1088G>C	noncoding	Benign/Likely_benign
6	42183818	G	A	G42183818A	GUCA1B	NM_002098.6(GUCA1B):c.*997C>T	noncoding	Benign
6	42183854	T	G	T42183854G	GUCA1B	NM_002098.6(GUCA1B):c.*961A>C	noncoding	Benign
6	42183887	T	C	T42183887C	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*928A>G	noncoding	Benign/Likely_benign
6	42184035	G	A	G42184035A	GUCA1B	NM_002098.6(GUCA1B):c.*780C>T	noncoding	Benign
6	42184197	C	T	C42184197T	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*618G>A	noncoding	Benign/Likely_benign
6	42184358	T	C	T42184358C	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*457A>G	noncoding	Benign/Likely_benign
6	42184382	T	C	T42184382C	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*433A>G	noncoding	Benign/Likely_benign
6	42184386	C	T	C42184386T	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*429G>A	noncoding	Benign/Likely_benign
6	42184520	C	T	C42184520T	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*295G>A	noncoding	Benign/Likely_benign
6	42184595	T	C	T42184595C	GUCA1A;GUCA1B	NM_002098.6(GUCA1B):c.*220A>G	noncoding	Benign/Likely_benign
6	42185672	C	T	C42185672T	GUCA1B	NM_002098.6(GUCA1B):c.475+8G>A	noncoding	Benign
6	42185690	C	A	C42185690A	GUCA1B	NM_002098.6(GUCA1B):c.465G>T:p.Glu155Asp	coding	Benign
6	42185756	T	C	T42185756C	GUCA1B	NM_002098.6(GUCA1B):c.399A>G:p.Gln133=	coding	Benign
6	42188686	C	T	C42188686T	GUCA1B	NM_002098.6(GUCA1B):c.253G>A:p.Val85Met	coding	Benign/Likely_benign
6	42194650	A	G	A42194650G	GUCA1B	NM_002098.6(GUCA1B):c.171T>C:p.Tyr57=	coding	Benign
6	42194734	C	T	C42194734T	GUCA1B	NM_002098.6(GUCA1B):c.87G>A:p.Val29=	coding	Benign
6	42194837	A	G	A42194837G	GUCA1B	NM_002098.6(GUCA1B):c.-17T>C	noncoding	Benign
6	42194880	T	C	T42194880C	GUCA1B	NM_002098.6(GUCA1B):c.-60A>G	noncoding	Benign
6	42194893	C	T	C42194893T	GUCA1B	NM_002098.6(GUCA1B):c.-73G>A	noncoding	Benign
6	42236244	G	A	G42236244A	TRERF1	NM_033502.4(TRERF1):c.3027C>T:p.Pro1009=	coding	Benign
6	42246553	A	C	A42246553C	TRERF1	NM_033502.4(TRERF1):c.2657-9T>G	noncoding	Benign
6	42256785	T	G	T42256785G	TRERF1	NM_033502.4(TRERF1):c.2523A>C:p.Gly841=	coding	Benign
6	42258175	C	T	C42258175T	TRERF1	NM_033502.4(TRERF1):c.2296G>A:p.Val766Ile	coding	Benign
6	42259604	G	A	G42259604A	TRERF1	NM_033502.4(TRERF1):c.2004C>T:p.Ser668=	coding	Benign
6	42263347	C	A	C42263347A	TRERF1	NM_033502.4(TRERF1):c.1857G>T:p.Ser619=	coding	Benign
6	42263482	G	A	G42263482A	TRERF1	NM_033502.4(TRERF1):c.1722C>T:p.Pro574=	coding	Benign
6	42264771	T	C	T42264771C	TRERF1	NM_033502.4(TRERF1):c.1568A>G:p.Asn523Ser	coding	Benign
6	42265791	G	A	G42265791A	TRERF1	NM_033502.4(TRERF1):c.1444C>T:p.Leu482=	coding	Benign
6	42268300	T	C	T42268300C	TRERF1	NM_033502.4(TRERF1):c.1291A>G:p.Thr431Ala	coding	Benign
6	42268691	T	C	T42268691C	TRERF1	NM_033502.4(TRERF1):c.900A>G:p.Pro300=	coding	Benign
6	42269332	T	C	T42269332C	TRERF1	NM_033502.4(TRERF1):c.259A>G:p.Ser87Gly	coding	Benign
6	42269386	C	T	C42269386T	TRERF1	NM_033502.4(TRERF1):c.205G>A:p.Val69Ile	coding	Benign
6	42659728	C	T	C42659728T	UBR2	NM_015255.2(UBR2):c.3315C>T:p.Phe1105=	coding	Benign
6	42696761	A	G	A42696761G	PRPH2	NM_000322.5(PRPH2):c.*1534T>C	noncoding	Benign/Likely_benign
6	42696771	C	G	C42696771G	PRPH2	NM_000322.5(PRPH2):c.*1524G>C	noncoding	Benign/Likely_benign
6	42696920	G	A	G42696920A	PRPH2	NM_000322.5(PRPH2):c.*1375C>T	noncoding	Benign
6	42696923	G	T	G42696923T	PRPH2	NM_000322.5(PRPH2):c.*1372C>A	noncoding	Benign/Likely_benign
6	42696938	G	A	G42696938A	PRPH2	NM_000322.5(PRPH2):c.*1357C>T	noncoding	Benign
6	42696982	C	T	C42696982T	PRPH2	NM_000322.5(PRPH2):c.*1313G>A	noncoding	Benign/Likely_benign
6	42697065	G	A	G42697065A	PRPH2	NM_000322.5(PRPH2):c.*1230C>T	noncoding	Benign/Likely_benign
6	42697174	T	G	T42697174G	PRPH2	NM_000322.5(PRPH2):c.*1121A>C	noncoding	Benign/Likely_benign
6	42697294	G	T	G42697294T	PRPH2	NM_000322.5(PRPH2):c.*1001C>A	noncoding	Benign
6	42697306	C	T	C42697306T	PRPH2	NM_000322.5(PRPH2):c.*989G>A	noncoding	Benign/Likely_benign
6	42697397	G	T	G42697397T	PRPH2	NM_000322.5(PRPH2):c.*898C>A	noncoding	Benign
6	42697456	C	T	C42697456T	PRPH2	NM_000322.5(PRPH2):c.*839G>A	noncoding	Benign
6	42697533	G	A	G42697533A	PRPH2	NM_000322.5(PRPH2):c.*762C>T	noncoding	Benign
6	42697752	C	T	C42697752T	PRPH2	NM_000322.5(PRPH2):c.*543G>A	noncoding	Benign
6	42698019	C	G	C42698019G	PRPH2	NM_000322.5(PRPH2):c.*276G>C	noncoding	Benign
6	42698121	G	A	G42698121A	PRPH2	NM_000322.5(PRPH2):c.*174C>T	noncoding	Benign
6	42698150	C	T	C42698150T	PRPH2	NM_000322.5(PRPH2):c.*145G>A	noncoding	Benign
6	42698163	G	A	G42698163A	PRPH2	NM_000322.5(PRPH2):c.*132C>T	noncoding	Benign
6	42698282	G	A	G42698282A	PRPH2	NM_000322.5(PRPH2):c.*13C>T	noncoding	Benign
6	42698323	T	C	T42698323C	PRPH2	NM_000322.5(PRPH2):c.1013A>G:p.Asp338Gly	coding	Benign
6	42698389	C	T	C42698389T	PRPH2	NM_000322.5(PRPH2):c.947G>A:p.Trp316Ter	coding	Pathogenic
6	42698407	C	T	C42698407T	PRPH2	NM_000322.5(PRPH2):c.929G>A:p.Arg310Lys	coding	Benign
6	42698426	G	C	G42698426C	PRPH2	NM_000322.5(PRPH2):c.910C>G:p.Gln304Glu	coding	Benign
6	42698427	G	A	G42698427A	PRPH2	NM_000322.5(PRPH2):c.909C>T:p.Ser303=	coding	Benign/Likely_benign
6	42698432	C	A	C42698432A	PRPH2	NM_000322.5(PRPH2):c.904G>T:p.Glu302Ter	coding	Pathogenic/Likely_pathogenic
6	42698511	G	C	G42698511C	PRPH2	NM_000322.5(PRPH2):c.829-4C>G	noncoding	Pathogenic
6	42698555	G	A	G42698555A	PRPH2	NM_000322.5(PRPH2):c.829-48C>T	noncoding	Benign
6	42704362	T	A	T42704362A	PRPH2	NM_000322.5(PRPH2):c.828+3A>T	noncoding	Pathogenic
6	42704364	C	T	C42704364T	PRPH2	NM_000322.5(PRPH2):c.828+1G>A	noncoding	Pathogenic
6	42704396	C	T	C42704396T	PRPH2	NM_000322.5(PRPH2):c.797G>A:p.Gly266Asp	coding	Pathogenic
6	42704419	G	T	G42704419T	PRPH2	NM_000322.5(PRPH2):c.774C>A:p.Tyr258Ter	coding	Pathogenic
6	42704445	A	T	A42704445T	PRPH2	NM_000322.5(PRPH2):c.748T>A:p.Cys250Ser	coding	Pathogenic/Likely_pathogenic
6	42704455	C	T	C42704455T	PRPH2	NM_000322.5(PRPH2):c.738G>A:p.Trp246Ter	coding	Pathogenic
6	42704456	C	T	C42704456T	PRPH2	NM_000322.5(PRPH2):c.737G>A:p.Trp246Ter	coding	Pathogenic
6	42704457	A	G	A42704457G	PRPH2	NM_000322.5(PRPH2):c.736T>C:p.Trp246Arg	coding	Pathogenic
6	42704461	G	T	G42704461T	PRPH2	NM_000322.5(PRPH2):c.732C>A:p.Asn244Lys	coding	Pathogenic
6	42704478	G	A	G42704478A	PRPH2	NM_000322.5(PRPH2):c.715C>T:p.Gln239Ter	coding	Pathogenic
6	42704485	G	C	G42704485C	PRPH2	NM_000322.5(PRPH2):c.708C>G:p.Tyr236Ter	coding	Pathogenic/Likely_pathogenic
6	42704540	G	T	G42704540T	PRPH2	NM_000322.5(PRPH2):c.653C>A:p.Ser218Ter	coding	Pathogenic/Likely_pathogenic
6	42704546	G	A	G42704546A	PRPH2	NM_000322.5(PRPH2):c.647C>T:p.Pro216Leu	coding	Pathogenic
6	42704547	G	A	G42704547A	PRPH2	NM_000322.5(PRPH2):c.646C>T:p.Pro216Ser	coding	Pathogenic/Likely_pathogenic
6	42704555	C	G	C42704555G	PRPH2	NM_000322.5(PRPH2):c.638G>C:p.Cys213Ser	coding	Pathogenic
6	42704555	C	T	C42704555T	PRPH2	NM_000322.5(PRPH2):c.638G>A:p.Cys213Tyr	coding	Pathogenic/Likely_pathogenic
6	42704556	A	G	A42704556G	PRPH2	NM_000322.5(PRPH2):c.637T>C:p.Cys213Arg	coding	Pathogenic
6	42704558	C	G	C42704558G	PRPH2	NM_000322.5(PRPH2):c.635G>C:p.Ser212Thr	coding	Pathogenic/Likely_pathogenic
6	42704559	T	C	T42704559C	PRPH2	NM_000322.5(PRPH2):c.634A>G:p.Ser212Gly	coding	Pathogenic/Likely_pathogenic
6	42704564	G	C	G42704564C	PRPH2	NM_000322.5(PRPH2):c.629C>G:p.Pro210Arg	coding	Pathogenic/Likely_pathogenic
6	42704570	C	T	C42704570T	PRPH2	NM_000322.5(PRPH2):c.623G>A:p.Gly208Asp	coding	Pathogenic/Likely_pathogenic
6	42704581	G	C	G42704581C	PRPH2	NM_000322.5(PRPH2):c.612C>G:p.Tyr204Ter	coding	Pathogenic
6	42704581	G	T	G42704581T	PRPH2	NM_000322.5(PRPH2):c.612C>A:p.Tyr204Ter	coding	Pathogenic
6	42704609	C	A	C42704609A	PRPH2	NM_000322.5(PRPH2):c.584G>T:p.Arg195Leu	coding	Pathogenic
6	42704609	C	T	C42704609T	PRPH2	NM_000322.5(PRPH2):c.584G>A:p.Arg195Gln	coding	Pathogenic/Likely_pathogenic
6	42704612	C	G	C42704612G	PRPH2	NM_000322.5(PRPH2):c.582-1G>C	coding	Pathogenic
6	42704612	C	T	C42704612T	PRPH2	NM_000322.5(PRPH2):c.582-1G>A	coding	Pathogenic/Likely_pathogenic
6	42721781	A	G	A42721781G	PRPH2	NM_000322.5(PRPH2):c.554T>C:p.Leu185Pro	coding	Pathogenic/Likely_pathogenic
6	42721817	T	A	T42721817A	PRPH2	NM_000322.5(PRPH2):c.518A>T:p.Asp173Val	coding	Pathogenic
6	42721820	C	T	C42721820T	PRPH2	NM_000322.5(PRPH2):c.515G>A:p.Arg172Gln	coding	Pathogenic
6	42721821	G	A	G42721821A	PRPH2	NM_000322.5(PRPH2):c.514C>T:p.Arg172Trp	coding	Pathogenic
6	42721835	C	T	C42721835T	PRPH2	NM_000322.5(PRPH2):c.500G>A:p.Gly167Asp	coding	Pathogenic
6	42721836	C	T	C42721836T	PRPH2	NM_000322.5(PRPH2):c.499G>A:p.Gly167Ser	coding	Pathogenic/Likely_pathogenic
6	42721837	G	T	G42721837T	PRPH2	NM_000322.5(PRPH2):c.498C>A:p.Cys166Ter	coding	Pathogenic
6	42721838	C	T	C42721838T	PRPH2	NM_000322.5(PRPH2):c.497G>A:p.Cys166Tyr	coding	Pathogenic
6	42721852	G	A	G42721852A	PRPH2	NM_000322.5(PRPH2):c.483C>T:p.Ile161=	coding	Benign/Likely_benign
6	42721885	A	T	A42721885T	PRPH2	NM_000322.5(PRPH2):c.450T>A:p.Cys150Ter	coding	Pathogenic
6	42721911	G	A	G42721911A	PRPH2	NM_000322.5(PRPH2):c.424C>T:p.Arg142Trp	coding	Pathogenic
6	42721913	T	C	T42721913C	PRPH2	NM_000322.5(PRPH2):c.422A>G:p.Tyr141Cys	coding	Pathogenic
6	42721946	A	G	A42721946G	PRPH2	NM_000322.5(PRPH2):c.389T>C:p.Leu130Pro	coding	Pathogenic/Likely_pathogenic
6	42722017	A	G	A42722017G	PRPH2	NM_000322.5(PRPH2):c.318T>C:p.Val106=	coding	Benign
6	42722032	G	C	G42722032C	PRPH2	NM_000322.5(PRPH2):c.303C>G:p.Tyr101Ter	coding	Pathogenic
6	42722045	C	T	C42722045T	PRPH2	NM_000322.5(PRPH2):c.290G>A:p.Trp97Ter	coding	Pathogenic
6	42722062	A	T	A42722062T	PRPH2	NM_000322.5(PRPH2):c.273T>A:p.Tyr91Ter	coding	Pathogenic
6	42722108	G	T	G42722108T	PRPH2	NM_000322.5(PRPH2):c.227C>A:p.Ser76Ter	coding	Pathogenic
6	42722199	G	A	G42722199A	PRPH2	NM_000322.5(PRPH2):c.136C>T:p.Arg46Ter	coding	Pathogenic/Likely_pathogenic
6	42722255	G	A	G42722255A	PRPH2	NM_000322.5(PRPH2):c.80C>T:p.Ser27Phe	coding	Pathogenic/Likely_pathogenic
6	42722298	G	A	G42722298A	PRPH2	NM_000322.5(PRPH2):c.37C>T:p.Arg13Trp	coding	Benign/Likely_benign
6	42722333	A	G	A42722333G	PRPH2	NM_000322.5(PRPH2):c.2T>C:p.Met1Thr	coding	Pathogenic
6	42722345	T	G	T42722345G	PRPH2	NM_000322.5(PRPH2):c.-11A>C	noncoding	Benign
6	42925516	G	A	G42925516A	PTCRA	NM_138296.3(PTCRA):c.680G>A:p.Arg227Gln	coding	Benign
6	42937717	G	C	G42937717C	CNPY3	NM_006586.5(CNPY3):c.373G>C:p.Gly125Arg	coding	Pathogenic
6	42937840	G	A	G42937840A	CNPY3	NM_006586.5(CNPY3):c.495+1G>A	coding	Pathogenic
6	42960916	T	C	T42960916C	GNMT	NM_018960.6(GNMT):c.149T>C:p.Leu50Pro	coding	Pathogenic
6	42962838	C	T	C42962838T	GNMT	NM_018960.6(GNMT):c.411C>T:p.Ile137=	coding	Benign
6	42962849	A	G	A42962849G	GNMT	NM_018960.6(GNMT):c.422A>G:p.Asn141Ser	coding	Pathogenic
6	42963139	G	A	G42963139A	GNMT	NM_018960.6(GNMT):c.519G>A:p.Leu173=	coding	Benign
6	42964016	G	A	G42964016A	PEX6	NM_000287.4(PEX6):c.*319C>T	noncoding	Benign
6	42964342	G	A	G42964342A	PEX6	NM_000287.4(PEX6):c.2936C>T:p.Ala979Val	coding	Benign/Likely_benign
6	42964462	G	T	G42964462T	PEX6	NM_000287.4(PEX6):c.2816C>A:p.Pro939Gln	coding	Benign
6	42964464	C	T	C42964464T	PEX6	NM_000287.4(PEX6):c.2814G>A:p.Glu938=	coding	Benign
6	42964826	C	A	C42964826A	PEX6	NM_000287.4(PEX6):c.2770G>T:p.Ala924Ser	coding	Benign/Likely_benign
6	42964882	C	A	C42964882A	PEX6	NM_000287.4(PEX6):c.2714G>T:p.Cys905Phe	coding	Pathogenic
6	42964931	T	G	T42964931G	PEX6	NM_000287.4(PEX6):c.2667-2A>C	noncoding	Pathogenic
6	42965078	C	A	C42965078A	PEX6	NM_000287.4(PEX6):c.2663G>T:p.Arg888Leu	coding	Pathogenic
6	42965097	C	T	C42965097T	PEX6	NM_000287.4(PEX6):c.2644G>A:p.Val882Ile	coding	Benign
6	42965262	G	A	G42965262A	PEX6	NM_000287.4(PEX6):c.2578C>T:p.Arg860Trp	coding	Pathogenic
6	42965309	A	G	A42965309G	PEX6	NM_000287.4(PEX6):c.2531T>C:p.Val844Ala	coding	Benign/Likely_benign
6	42965712	G	A	G42965712A	PEX6	NM_000287.4(PEX6):c.2440C>T:p.Arg814Ter	coding	Pathogenic/Likely_pathogenic
6	42965716	C	T	C42965716T	PEX6	NM_000287.4(PEX6):c.2436G>A:p.Arg812=	coding	Benign/Likely_benign
6	42965717	C	T	C42965717T	PEX6	NM_000287.4(PEX6):c.2435G>A:p.Arg812Gln	coding	Pathogenic/Likely_pathogenic
6	42965726	G	A	G42965726A	PEX6	NM_000287.4(PEX6):c.2426C>T:p.Ala809Val	coding	Benign
6	42965788	C	T	C42965788T	PEX6	NM_000287.4(PEX6):c.2364G>A:p.Val788=	coding	Benign
6	42966044	C	T	C42966044T	PEX6	NM_000287.4(PEX6):c.2362G>A:p.Val788Met	coding	Pathogenic/Likely_pathogenic
6	42966545	G	A	G42966545A	PEX6	NM_000287.4(PEX6):c.2074C>T:p.Gln692Ter	coding	Pathogenic
6	42966623	C	A	C42966623A	PEX6	NM_000287.4(PEX6):c.1996G>T:p.Glu666Ter	coding	Pathogenic
6	42966658	C	T	C42966658T	PEX6	NM_000287.4(PEX6):c.1962-1G>A	coding	Pathogenic
6	42966762	C	T	C42966762T	PEX6	NM_000287.4(PEX6):c.1961+20G>A	noncoding	Benign
6	42966802	G	T	G42966802T	PEX6	NM_000287.4(PEX6):c.1941C>A:p.Cys647Ter	coding	Pathogenic
6	42966813	G	A	G42966813A	PEX6	NM_000287.4(PEX6):c.1930C>T:p.Arg644Trp	coding	Pathogenic
6	42966882	C	T	C42966882T	PEX6	NM_000287.4(PEX6):c.1885-24G>A	noncoding	Benign
6	42967537	G	A	G42967537A	PEX6	NM_000287.4(PEX6):c.1715C>T:p.Thr572Ile	coding	Pathogenic
6	42968260	G	A	G42968260A	PEX6	NM_000287.4(PEX6):c.1688+30C>T	noncoding	Benign
6	42968289	C	A	C42968289A	PEX6	NM_000287.4(PEX6):c.1688+1G>T	noncoding	Pathogenic
6	42968289	C	T	C42968289T	PEX6	NM_000287.4(PEX6):c.1688+1G>A	noncoding	Pathogenic
6	42968298	G	A	G42968298A	PEX6	NM_000287.4(PEX6):c.1680C>T:p.Pro560=	coding	Benign
6	42968332	G	A	G42968332A	PEX6	NM_000287.4(PEX6):c.1646C>T:p.Ala549Val	coding	Benign/Likely_benign
6	42968377	A	G	A42968377G	PEX6	NM_000287.4(PEX6):c.1601T>C:p.Leu534Pro	coding	Pathogenic
6	42968487	G	A	G42968487A	PEX6	NM_000287.4(PEX6):c.1491C>T:p.Ser497=	coding	Benign/Likely_benign
6	42968503	G	A	G42968503A	PEX6	NM_000287.4(PEX6):c.1480-5C>T	noncoding	Benign/Likely_benign
6	42969675	G	A	G42969675A	PEX6	NM_000287.4(PEX6):c.1360C>T:p.Gln454Ter	coding	Pathogenic/Likely_pathogenic
6	42969911	C	T	C42969911T	PEX6	NM_000287.4(PEX6):c.1207G>A:p.Asp403Asn	coding	Benign
6	42969916	A	T	A42969916T	PEX6	NM_000287.4(PEX6):c.1202T>A:p.Leu401Ter	coding	Pathogenic
6	42974059	A	T	A42974059T	PEX6	NM_000287.4(PEX6):c.1074T>A:p.Cys358Ter	coding	Pathogenic
6	42974062	T	C	T42974062C	PEX6	NM_000287.4(PEX6):c.1071A>G:p.Leu357=	coding	Benign
6	42974079	G	A	G42974079A	PEX6	NM_000287.4(PEX6):c.1054C>T:p.Gln352Ter	coding	Pathogenic
6	42974847	A	G	A42974847G	PEX6	NM_000287.4(PEX6):c.1046+28T>C	noncoding	Benign
6	42974893	C	T	C42974893T	PEX6	NM_000287.4(PEX6):c.1028G>A:p.Arg343Gln	coding	Benign
6	42974952	G	A	G42974952A	PEX6	NM_000287.4(PEX6):c.969C>T:p.Ile323=	coding	Benign/Likely_benign
6	42975041	A	G	A42975041G	PEX6	NM_000287.4(PEX6):c.883-3T>C	noncoding	Benign
6	42978268	C	T	C42978268T	PEX6	NM_000287.4(PEX6):c.882+1G>A	noncoding	Pathogenic
6	42978330	G	A	G42978330A	PEX6	NM_000287.4(PEX6):c.821C>T:p.Pro274Leu	coding	Pathogenic/Likely_pathogenic
6	42978338	C	A	C42978338A	PEX6	NM_000287.4(PEX6):c.813G>T:p.Ala271=	coding	Benign/Likely_benign
6	42978540	G	C	G42978540C	PEX6	NM_000287.4(PEX6):c.611C>G:p.Ser204Ter	coding	Pathogenic
6	42978752	C	A	C42978752A	PEX6	NM_000287.4(PEX6):c.399G>T:p.Val133=	coding	Benign
6	42978780	A	G	A42978780G	PEX6	NM_000287.4(PEX6):c.371T>C:p.Leu124Pro	coding	Pathogenic
6	42978821	G	C	G42978821C	PEX6	NM_000287.4(PEX6):c.330C>G:p.Thr110=	coding	Benign/Likely_benign
6	42978855	C	A	C42978855A	PEX6	NM_000287.4(PEX6):c.296G>T:p.Arg99Leu	coding	Pathogenic
6	42978876	A	C	A42978876C	PEX6	NM_000287.4(PEX6):c.275T>G:p.Val92Gly	coding	Pathogenic
6	42978878	C	T	C42978878T	PEX6	NM_000287.4(PEX6):c.273G>A:p.Trp91Ter	coding	Pathogenic/Likely_pathogenic
6	42978916	C	G	C42978916G	PEX6	NM_000287.4(PEX6):c.235G>C:p.Ala79Pro	coding	Benign
6	42978941	C	T	C42978941T	PEX6	NM_000287.4(PEX6):c.210G>A:p.Gly70=	coding	Benign
6	42978944	G	A	G42978944A	PEX6	NM_000287.4(PEX6):c.207C>T:p.Pro69=	coding	Benign
6	42979205	G	A	G42979205A	PEX6	NM_000287.3(PEX6):c.-55C>T	noncoding	Benign
6	42989654	C	T	C42989654T	PPP2R5D	NM_006245.4(PPP2R5D):c.71C>T:p.Ser24Leu	coding	Benign
6	43006514	C	T	C43006514T	PPP2R5D	NM_006245.4(PPP2R5D):c.157C>T:p.Pro53Ser	coding	Pathogenic
6	43006610	C	T	C43006610T	PPP2R5D	NM_006245.4(PPP2R5D):c.253C>T:p.Arg85Ter	coding	Pathogenic
6	43007262	G	A	G43007262A	PPP2R5D	NM_006245.4(PPP2R5D):c.589G>A:p.Glu197Lys	coding	Pathogenic
6	43007265	G	A	G43007265A	PPP2R5D	NM_006245.4(PPP2R5D):c.592G>A:p.Glu198Lys	coding	Pathogenic
6	43007271	G	A	G43007271A	PPP2R5D	NM_006245.4(PPP2R5D):c.598G>A:p.Glu200Lys	coding	Pathogenic/Likely_pathogenic
6	43007275	C	G	C43007275G	PPP2R5D	NM_006245.4(PPP2R5D):c.602C>G:p.Pro201Arg	coding	Pathogenic
6	43007292	T	A	T43007292A	PPP2R5D	NM_006245.4(PPP2R5D):c.619T>A:p.Trp207Arg	coding	Pathogenic
6	43007292	T	C	T43007292C	PPP2R5D	NM_006245.4(PPP2R5D):c.619T>C:p.Trp207Arg	coding	Pathogenic/Likely_pathogenic
6	43007305	A	C	A43007305C	PPP2R5D	NM_006245.4(PPP2R5D):c.632A>C:p.Gln211Pro	coding	Pathogenic/Likely_pathogenic
6	43007960	A	C	A43007960C	PPP2R5D	NM_006245.4(PPP2R5D):c.752A>C:p.Asp251Ala	coding	Pathogenic/Likely_pathogenic
6	43007960	A	T	A43007960T	PPP2R5D	NM_006245.4(PPP2R5D):c.752A>T:p.Asp251Val	coding	Pathogenic/Likely_pathogenic
6	43007966	G	C	G43007966C	PPP2R5D	NM_006245.4(PPP2R5D):c.758G>C:p.Arg253Pro	coding	Pathogenic
6	43008270	C	T	C43008270T	PPP2R5D	NM_006245.4(PPP2R5D):c.917+10C>T	noncoding	Benign
6	43009328	G	A	G43009328A	PPP2R5D	NM_006245.4(PPP2R5D):c.1258G>A:p.Glu420Lys	coding	Pathogenic/Likely_pathogenic
6	43009354	T	C	T43009354C	PPP2R5D	NM_006245.4(PPP2R5D):c.1284T>C:p.Asn428=	coding	Benign
6	43037697	G	A	G43037697A	CUL7	NM_014780.4(CUL7):c.5088C>T:p.Thr1696=	coding	Benign
6	43037850	G	A	G43037850A	CUL7	NM_014780.4(CUL7):c.4935C>T:p.Ser1645=	coding	Benign
6	43037871	G	A	G43037871A	CUL7	NM_014780.4(CUL7):c.4914C>T:p.Asp1638=	coding	Benign/Likely_benign
6	43037887	G	A	G43037887A	CUL7	NM_014780.4(CUL7):c.4898C>T:p.Thr1633Met	coding	Benign
6	43037991	C	T	C43037991T	CUL7	NM_014780.4(CUL7):c.4794G>A:p.Lys1598=	coding	Benign
6	43038278	G	T	G43038278T	CUL7	NM_014780.4(CUL7):c.4762C>A:p.Leu1588Ile	coding	Benign
6	43038323	G	A	G43038323A	CUL7	NM_014780.4(CUL7):c.4717C>T:p.Arg1573Ter	coding	Pathogenic
6	43038670	A	G	A43038670G	CUL7	NM_014780.4(CUL7):c.4463T>C:p.Leu1488Pro	coding	Benign
6	43038891	T	G	T43038891G	CUL7	NM_014780.4(CUL7):c.4391A>C:p.His1464Pro	coding	Pathogenic
6	43038949	G	A	G43038949A	CUL7	NM_014780.4(CUL7):c.4333C>T:p.Arg1445Ter	coding	Pathogenic
6	43038959	G	A	G43038959A	CUL7	NM_014780.4(CUL7):c.4323C>T:p.Gly1441=	coding	Benign
6	43038964	G	A	G43038964A	CUL7	NM_014780.4(CUL7):c.4318C>T:p.Arg1440Ter	coding	Pathogenic
6	43039001	G	T	G43039001T	CUL7	NM_014780.4(CUL7):c.4295-14C>A	noncoding	Benign
6	43040189	T	C	T43040189C	CUL7	NM_014780.5(CUL7):c.4261A>G:p.Thr1421Ala	coding	Benign
6	43040560	C	T	C43040560T	CUL7	NM_014780.4(CUL7):c.3993G>A:p.Leu1331=	coding	Benign
6	43040677	G	A	G43040677A	CUL7	NM_014780.4(CUL7):c.3876C>T:p.Ile1292=	coding	Benign/Likely_benign
6	43040953	G	A	G43040953A	CUL7	NM_014780.5(CUL7):c.3768C>T:p.Ser1256=	coding	Benign
6	43041026	C	T	C43041026T	CUL7	NM_014780.4(CUL7):c.3695G>A:p.Arg1232Gln	coding	Benign/Likely_benign
6	43043120	A	G	A43043120G	CUL7	NM_014780.4(CUL7):c.3416T>C:p.Ile1139Thr	coding	Benign
6	43043631	C	G	C43043631G	CUL7	NM_014780.4(CUL7):c.3173-1G>C	coding	Pathogenic
6	43044828	G	A	G43044828A	CUL7	NM_014780.4(CUL7):c.3096C>T:p.Asp1032=	coding	Benign
6	43045277	C	T	C43045277T	CUL7	NM_014780.5(CUL7):c.2988G>A:p.Trp996Ter	coding	Pathogenic
6	43045601	T	A	T43045601A	CUL7	NM_014780.4(CUL7):c.2848A>T:p.Lys950Ter	coding	Pathogenic
6	43045646	G	A	G43045646A	CUL7	NM_014780.4(CUL7):c.2803C>T:p.Leu935=	coding	Benign
6	43046042	G	A	G43046042A	CUL7	NM_014780.4(CUL7):c.2710C>T:p.Arg904Ter	coding	Pathogenic
6	43046235	C	G	C43046235G	CUL7	NM_014780.5(CUL7):c.2660+1G>C	noncoding	Pathogenic
6	43046284	G	A	G43046284A	CUL7	NM_014780.5(CUL7):c.2612C>T:p.Ala871Val	coding	Benign
6	43046293	T	C	T43046293C	CUL7	NM_014780.4(CUL7):c.2603A>G:p.Asn868Ser	coding	Benign/Likely_benign
6	43046304	A	C	A43046304C	CUL7	NM_001168370.1(CUL7):c.2844T>G:p.Tyr948Ter	coding	Pathogenic/Likely_pathogenic
6	43046341	C	T	C43046341T	CUL7	NM_014780.4(CUL7):c.2555G>A:p.Arg852Gln	coding	Benign
6	43046560	T	C	T43046560C	CUL7	NM_014780.4(CUL7):c.2439A>G:p.Gln813=	coding	Benign
6	43046561	T	C	T43046561C	CUL7	NM_014780.4(CUL7):c.2438A>G:p.Gln813Arg	coding	Benign
6	43048153	G	A	G43048153A	CUL7	NM_014780.4(CUL7):c.2164C>T:p.Arg722Ter	coding	Pathogenic
6	43048205	C	T	C43048205T	CUL7	NM_014780.4(CUL7):c.2112G>A:p.Trp704Ter	coding	Pathogenic
6	43048413	C	T	C43048413T	CUL7	NM_014780.5(CUL7):c.1982G>A:p.Arg661Gln	coding	Benign
6	43048549	T	C	T43048549C	CUL7	NM_014780.4(CUL7):c.1846A>G:p.Ser616Gly	coding	Benign/Likely_benign
6	43049452	C	T	C43049452T	CUL7	NM_014780.4(CUL7):c.1780G>A:p.Ala594Thr	coding	Benign
6	43049584	G	A	G43049584A	CUL7	NM_001168370.1(CUL7):c.1900C>T:p.Arg634Ter	coding	Pathogenic
6	43049665	G	T	G43049665T	CUL7	NM_014780.4(CUL7):c.1570-3C>A	noncoding	Pathogenic
6	43049990	C	A	C43049990A	CUL7	NM_014780.4(CUL7):c.1542G>T:p.Gln514His	coding	Benign
6	43050999	C	T	C43050999T	CUL7	NM_014780.4(CUL7):c.1202G>A:p.Arg401Gln	coding	Benign
6	43051171	C	T	C43051171T	CUL7	NM_014780.4(CUL7):c.1030G>A:p.Ala344Thr	coding	Benign
6	43051174	G	A	G43051174A	CUL7	NM_014780.4(CUL7):c.1027C>T:p.Pro343Ser	coding	Benign
6	43051657	C	T	C43051657T	CUL7	NM_014780.5(CUL7):c.687G>A:p.Thr229=	coding	Benign
6	43052324	T	A	T43052324A	CUL7	NM_014780.4(CUL7):c.465A>T:p.Gly155=	coding	Benign
6	43052450	G	A	G43052450A	CUL7	NM_014780.4(CUL7):c.339C>T:p.Asp113=	coding	Benign
6	43053781	G	A	G43053781A	CUL7	NM_014780.4(CUL7):c.-168C>T	coding	Benign
6	43053882	T	C	T43053882C	CUL7	NM_014780.4(CUL7):c.-269A>G	noncoding	Benign
6	43053913	C	G	C43053913G	CUL7	NM_014780.4(CUL7):c.-300G>C	noncoding	Benign
6	43130257	G	A	G43130257A	PTK7	NM_002821.5(PTK7):c.498G>A:p.Gly166=	coding	Benign
6	43132418	C	T	C43132418T	PTK7	NM_002821.5(PTK7):c.962-3C>T	noncoding	Benign
6	43132536	G	A	G43132536A	PTK7	NM_002821.5(PTK7):c.1077G>A:p.Ala359=	coding	Benign
6	43142211	C	T	C43142211T	PTK7	NM_002821.5(PTK7):c.1959C>T:p.Asp653=	coding	Benign
6	43142265	C	T	C43142265T	PTK7	NM_002821.5(PTK7):c.2013C>T:p.Asn671=	coding	Benign
6	43146706	C	T	C43146706T	PTK7	NM_002821.5(PTK7):c.2721+8C>T	noncoding	Benign
6	43159839	C	G	C43159839G	PTK7	NM_002821.5(PTK7):c.2925C>G:p.Pro975=	coding	Benign
6	43172040	C	T	C43172040T	SRF	NM_003131.4(SRF):c.384C>T:p.Ser128=	coding	Benign
6	43178493	G	C	G43178493C	SRF	NM_003131.4(SRF):c.1354+8G>C	noncoding	Benign
6	43204412	G	A	G43204412A	CUL9	NM_015089.4(CUL9):c.4212G>A:p.Gln1404=	coding	Benign
6	43220758	G	A	G43220758A	CUL9	NM_015089.4(CUL9):c.6435G>A:p.Ala2145=	coding	Benign
6	43254624	C	T	C43254624T	TTBK1	NM_032538.3(TTBK1):c.549C>T:p.Tyr183=	coding	Benign
6	43262978	C	T	C43262978T	TTBK1	NM_032538.3(TTBK1):c.1614C>T:p.Phe538=	coding	Benign
6	43263202	C	T	C43263202T	TTBK1	NM_032538.3(TTBK1):c.1838C>T:p.Pro613Leu	coding	Benign
6	43282777	G	A	G43282777A	TTBK1	NM_032538.3(TTBK1):c.2037G>A:p.Val679=	coding	Benign
6	43283560	C	T	C43283560T	TTBK1	NM_032538.3(TTBK1):c.2820C>T:p.Asn940=	coding	Benign
6	43283899	G	A	G43283899A	TTBK1	NM_032538.3(TTBK1):c.3159G>A:p.Arg1053=	coding	Benign
6	43298580	T	C	T43298580C	SLC22A7	NM_153320.2(SLC22A7):c.222T>C:p.Asp74=	coding	Benign
6	43337359	C	T	C43337359T	ZNF318	NM_014345.3(ZNF318):c.6639G>A:p.Ser2213=	coding	Benign
6	43338052	T	C	T43338052C	ZNF318	NM_014345.3(ZNF318):c.5946A>G:p.Leu1982=	coding	Benign
6	43339354	T	C	T43339354C	ZNF318	NM_014345.3(ZNF318):c.4644A>G:p.Glu1548=	coding	Benign
6	43339661	G	A	G43339661A	ZNF318	NM_014345.3(ZNF318):c.4337C>T:p.Pro1446Leu	coding	Benign
6	43447691	C	T	C43447691T	ABCC10	NM_001198934.2(ABCC10):c.3713C>T:p.Thr1238Ile	coding	Benign
6	43517179	G	A	G43517179A	POLR1C	NM_203290.4(POLR1C):c.69+1G>A	coding	Pathogenic
6	43517305	G	A	G43517305A	POLR1C	NM_203290.4(POLR1C):c.70-1G>A	noncoding	Pathogenic
6	43517313	C	T	C43517313T	POLR1C	NM_203290.4(POLR1C):c.77C>T:p.Thr26Ile	coding	Pathogenic
6	43517331	A	T	A43517331T	POLR1C	NM_203290.4(POLR1C):c.95A>T:p.Asn32Ile	coding	Pathogenic
6	43519412	A	G	A43519412G	POLR1C	NM_203290.4(POLR1C):c.221A>G:p.Asn74Ser	coding	Pathogenic
6	43519737	T	C	T43519737C	POLR1C	NM_203290.4(POLR1C):c.281T>C:p.Val94Ala	coding	Pathogenic
6	43519769	A	T	A43519769T	POLR1C	NM_203290.4(POLR1C):c.313A>T:p.Ile105Phe	coding	Pathogenic
6	43519778	C	T	C43519778T	POLR1C	NM_203290.4(POLR1C):c.322C>T:p.His108Tyr	coding	Pathogenic
6	43519782	G	A	G43519782A	POLR1C	NM_203290.4(POLR1C):c.326G>A:p.Arg109His	coding	Pathogenic/Likely_pathogenic
6	43519805	G	C	G43519805C	POLR1C	NM_203290.4(POLR1C):c.349G>C:p.Ala117Pro	coding	Pathogenic
6	43520119	T	C	T43520119C	POLR1C	NM_203290.4(POLR1C):c.436T>C:p.Cys146Arg	coding	Pathogenic
6	43520185	G	A	G43520185A	POLR1C	NM_203290.4(POLR1C):c.502G>A:p.Val168Met	coding	Pathogenic
6	43520406	A	G	A43520406G	POLR1C	NM_203290.4(POLR1C):c.634A>G:p.Met212Val	coding	Benign
6	43520616	C	T	C43520616T	POLR1C	NM_203290.4(POLR1C):c.656-9C>T	noncoding	Benign
6	43520668	C	G	C43520668G	POLR1C	NM_203290.4(POLR1C):c.699C>G:p.Tyr233Ter	coding	Pathogenic
6	43520702	G	A	G43520702A	POLR1C	NM_203290.4(POLR1C):c.733G>A:p.Val245Met	coding	Pathogenic
6	43520754	T	C	T43520754C	POLR1C	NM_203290.4(POLR1C):c.785T>C:p.Ile262Thr	coding	Pathogenic
6	43520961	C	T	C43520961T	POLR1C	NM_203290.4(POLR1C):c.835C>T:p.Arg279Trp	coding	Pathogenic
6	43520962	G	A	G43520962A	POLR1C	NM_203290.4(POLR1C):c.836G>A:p.Arg279Gln	coding	Pathogenic/Likely_pathogenic
6	43521229	G	A	G43521229A	POLR1C	NM_203290.4(POLR1C):c.970G>A:p.Glu324Lys	coding	Pathogenic
6	43521238	A	T	A43521238T	POLR1C	NM_203290.4(POLR1C):c.979A>T:p.Lys327Ter	coding	Pathogenic
6	43533926	C	T	C43533926T	XPO5	NM_020750.3(XPO5):c.2424G>A:p.Ala808=	coding	Benign
6	43534016	A	C	A43534016C	XPO5	NM_020750.3(XPO5):c.2343-9T>G	noncoding	Benign
6	43572565	C	T	C43572565T	XPO5	NM_020750.3(XPO5):c.241G>A:p.Gly81Ser	coding	Benign
6	43576328	C	T	C43576328T	POLH	NM_006502.2(POLH):c.-117C>T	noncoding	Benign
6	43576347	A	C	A43576347C	POLH	NM_006502.2(POLH):c.-98A>C	noncoding	Benign
6	43587375	C	T	C43587375T	POLH	NM_001291969.2(POLH):c.118+4234C>T	coding	Pathogenic
6	43587446	G	T	G43587446T	POLH	NM_006502.3(POLH):c.447G>T:p.Gly149=	coding	Benign
6	43587489	G	T	G43587489T	POLH	NM_006502.2(POLH):c.490G>T:p.Glu164Ter	coding	Pathogenic/Likely_pathogenic
6	43597831	G	T	G43597831T	POLH	NM_006502.2(POLH):c.626G>T:p.Gly209Val	coding	Benign/Likely_benign
6	43597875	A	C	A43597875C	POLH	NM_006502.2(POLH):c.660+10A>C	noncoding	Benign
6	43601052	C	G	C43601052G	POLH	NM_006502.2(POLH):c.725C>G:p.Ser242Ter	coding	Pathogenic
6	43601092	G	A	G43601092A	POLH	NM_006502.2(POLH):c.764+1G>A	coding	Pathogenic
6	43604637	C	T	C43604637T	POLH	NM_006502.2(POLH):c.907C>T:p.Arg303Ter	coding	Pathogenic
6	43604646	G	T	G43604646T	POLH	NM_006502.2(POLH):c.916G>T:p.Glu306Ter	coding	Pathogenic
6	43604716	C	T	C43604716T	POLH	NM_006502.2(POLH):c.986C>T:p.Thr329Ile	coding	Benign
6	43610596	C	T	C43610596T	POLH	NM_006502.2(POLH):c.1117C>T:p.Gln373Ter	coding	Pathogenic
6	43613848	C	T	C43613848T	POLH	NM_006502.3(POLH):c.1433C>T:p.Thr478Met	coding	Benign
6	43613849	G	A	G43613849A	POLH	NM_006502.2(POLH):c.1434G>A:p.Thr478=	coding	Benign
6	43614166	T	C	T43614166C	POLH	NM_006502.3(POLH):c.1751T>C:p.Leu584Pro	coding	Benign
6	43614198	A	G	A43614198G	POLH	NM_006502.2(POLH):c.1783A>G:p.Met595Val	coding	Benign/Likely_benign
6	43614354	A	T	A43614354T	POLH	NM_006502.2(POLH):c.1939A>T:p.Met647Leu	coding	Benign
6	43614489	A	G	A43614489G	POLH	NM_006502.3(POLH):c.2074A>G:p.Thr692Ala	coding	Pathogenic
6	43614607	A	G	A43614607G	POLH	NM_006502.2(POLH):c.*50A>G	noncoding	Benign
6	43614847	C	T	C43614847T	POLH	NM_006502.2(POLH):c.*290C>T	noncoding	Benign
6	43614928	A	G	A43614928G	POLH	NM_006502.2(POLH):c.*371A>G	noncoding	Benign
6	43614986	G	A	G43614986A	POLH	NM_006502.3(POLH):c.*429G>A	noncoding	Benign
6	43618029	A	G	A43618029G	POLH	NM_006502.3(POLH):c.*3472A>G	noncoding	Benign
6	43618168	T	A	T43618168A	POLH	NM_006502.3(POLH):c.*3611T>A	noncoding	Benign
6	43618404	G	A	G43618404A	POLH	NM_006502.2(POLH):c.*3847G>A	noncoding	Benign
6	43620187	G	A	G43620187A	POLH	NM_006502.2(POLH):c.*5630G>A	noncoding	Benign
6	43620254	G	A	G43620254A	POLH	NM_006502.2(POLH):c.*5697G>A	noncoding	Benign
6	43620270	T	C	T43620270C	POLH	NM_006502.2(POLH):c.*5713T>C	noncoding	Benign
6	43620490	T	A	T43620490A	POLH	NM_006502.3(POLH):c.*5933T>A	noncoding	Benign
6	43620491	G	A	G43620491A	POLH	NM_006502.3(POLH):c.*5934G>A	noncoding	Benign
6	43621680	G	A	G43621680A	GTPBP2	NM_019096.5(GTPBP2):c.1743C>T:p.Gly581=	coding	Benign
6	43622692	G	A	G43622692A	GTPBP2	NM_019096.5(GTPBP2):c.1408C>T:p.Arg470Ter	coding	Pathogenic
6	43623796	C	A	C43623796A	GTPBP2	NM_019096.5(GTPBP2):c.1237-1G>T	coding	Pathogenic
6	43623950	G	A	G43623950A	GTPBP2	NM_019096.5(GTPBP2):c.1219C>T:p.Gln407Ter	coding	Pathogenic
6	43625813	G	A	G43625813A	GTPBP2	NM_019096.5(GTPBP2):c.450C>T:p.Ser150=	coding	Benign
6	43625833	G	A	G43625833A	GTPBP2	NM_019096.5(GTPBP2):c.430C>T:p.Arg144Ter	coding	Pathogenic
6	43626216	G	C	G43626216C	GTPBP2	NM_019096.5(GTPBP2):c.398+10C>G	noncoding	Benign
6	43640298	C	T	C43640298T	MAD2L1BP	NM_014628.3(MAD2L1BP):c.590C>T:p.Ala197Val	coding	Benign
6	43645081	A	G	A43645081G	RSPH9	NM_152732.5(RSPH9):c.-18A>G	noncoding	Benign
6	43645150	C	T	C43645150T	RSPH9	NM_152732.5(RSPH9):c.52C>T:p.Gln18Ter	coding	Pathogenic
6	43645215	C	A	C43645215A	RSPH9	NM_152732.5(RSPH9):c.117C>A:p.Tyr39Ter	coding	Pathogenic
6	43650410	C	T	C43650410T	RSPH9	NM_152732.5(RSPH9):c.263C>T:p.Ala88Val	coding	Benign/Likely_benign
6	43650430	C	T	C43650430T	RSPH9	NM_152732.5(RSPH9):c.283C>T:p.Gln95Ter	coding	Pathogenic
6	43650480	T	G	T43650480G	RSPH9	NM_152732.5(RSPH9):c.333T>G:p.Tyr111Ter	coding	Pathogenic
6	43655634	C	T	C43655634T	RSPH9	NM_152732.5(RSPH9):c.466C>T:p.Arg156Ter	coding	Pathogenic
6	43666530	C	T	C43666530T	RSPH9	NM_152732.5(RSPH9):c.671-4259C>T	noncoding	Benign
6	43670899	G	A	G43670899A	RSPH9	NM_152732.5(RSPH9):c.781G>A:p.Val261Ile	coding	Benign
6	43768652	A	C	A43768652C	VEGFA	NM_001025366.2(VEGFA):c.-2055A>C	noncoding	Benign
6	43770931	G	A	G43770931A	VEGFA	NM_001025366.3(VEGFA):c.225G>A:p.Glu75=	coding	Benign
6	44158854	G	A	G44158854A	CAPN11	NM_007058.4(CAPN11):c.6G>A:p.Leu2=	coding	Benign
6	44172345	C	T	C44172345T	CAPN11	NM_007058.4(CAPN11):c.453C>T:p.Cys151=	coding	Benign
6	44229444	G	A	G44229444A	SLC29A1	NM_001372327.1(SLC29A1):c.84G>A:p.Pro28=	coding	Benign
6	44230559	C	T	C44230559T	SLC29A1	NM_001372327.1(SLC29A1):c.590-9C>T	noncoding	Benign
6	44231359	C	T	C44231359T	SLC29A1	NM_001372327.1(SLC29A1):c.767-5C>T	noncoding	Benign
6	44231465	C	T	C44231465T	SLC29A1	NM_001372327.1(SLC29A1):c.864+4C>T	noncoding	Benign
6	44232906	A	C	A44232906C	SLC29A1	NM_001078177.2(SLC29A1):c.1159A>C:p.Thr387Pro	coding	Pathogenic
6	44248746	C	T	C44248746T	HSP90AB1	NM_007355.4(HSP90AB1):c.117C>T:p.Phe39=	coding	Benign
6	44250488	A	G	A44250488G	HSP90AB1	NM_007355.4(HSP90AB1):c.846A>G:p.Leu282=	coding	Benign
6	44252189	G	A	G44252189A	HSP90AB1	NM_007355.4(HSP90AB1):c.1653G>A:p.Lys551=	coding	Benign
6	44253152	C	T	C44253152T	HSP90AB1	NM_007355.4(HSP90AB1):c.1839C>T:p.Asp613=	coding	Benign
6	44253332	C	G	C44253332G	HSP90AB1	NM_007355.4(HSP90AB1):c.2019C>G:p.Pro673=	coding	Benign
6	44254981	G	C	G44254981C	SLC35B2	NM_178148.4(SLC35B2):c.1024C>G:p.Leu342Val	coding	Benign
6	44255555	C	T	C44255555T	SLC35B2	NM_178148.4(SLC35B2):c.450G>A:p.Thr150=	coding	Benign
6	44264996	G	A	G44264996A	NFKBIE	NM_004556.3(NFKBIE):c.351C>T:p.Ser117=	coding	Benign
6	44298828	A	G	A44298828G	AARS2	NM_020745.4(AARS2):c.*1719T>C	noncoding	Benign
6	44298837	C	A	C44298837A	AARS2	NM_020745.4(AARS2):c.*1710G>T	noncoding	Benign
6	44298971	T	C	T44298971C	AARS2	NM_020745.4(AARS2):c.*1576A>G	noncoding	Benign
6	44299074	C	A	C44299074A	AARS2	NM_020745.4(AARS2):c.*1473G>T	noncoding	Benign
6	44299188	T	C	T44299188C	AARS2	NM_020745.4(AARS2):c.*1359A>G	noncoding	Benign
6	44299621	G	A	G44299621A	AARS2	NM_020745.4(AARS2):c.*926C>T	noncoding	Benign
6	44300612	C	T	C44300612T	AARS2	NM_020745.4(AARS2):c.2893G>A:p.Gly965Arg	coding	Pathogenic
6	44300621	G	A	G44300621A	AARS2	NM_020745.4(AARS2):c.2884C>T:p.Gln962Ter	coding	Pathogenic
6	44300634	T	C	T44300634C	AARS2	NM_020745.4(AARS2):c.2871A>G:p.Ser957=	coding	Benign
6	44301382	G	T	G44301382T	AARS2	NM_020745.4(AARS2):c.2681C>A:p.Ser894Ter	coding	Pathogenic
6	44301434	G	A	G44301434A	AARS2	NM_020745.4(AARS2):c.2629C>T:p.Arg877Trp	coding	Benign/Likely_benign
6	44301456	C	T	C44301456T	AARS2	NM_020745.4(AARS2):c.2607G>A:p.Lys869=	coding	Benign
6	44301833	C	T	C44301833T	AARS2	NM_020745.4(AARS2):c.2598+227G>A	noncoding	Benign
6	44301903	G	A	G44301903A	AARS2	NM_020745.4(AARS2):c.2598+157C>T	noncoding	Benign
6	44302044	C	A	C44302044A	AARS2	NM_020745.4(AARS2):c.2598+16G>T	noncoding	Benign
6	44302059	C	A	C44302059A	AARS2	NM_020745.4(AARS2):c.2598+1G>T	noncoding	Pathogenic
6	44302110	T	C	T44302110C	AARS2	NM_020745.4(AARS2):c.2548A>G:p.Met850Val	coding	Benign
6	44302438	C	T	C44302438T	AARS2	NM_020745.4(AARS2):c.2440G>A:p.Val814Met	coding	Benign
6	44302452	A	T	A44302452T	AARS2	NM_020745.4(AARS2):c.2426T>A:p.Leu809Gln	coding	Benign
6	44302810	C	T	C44302810T	AARS2	NM_020745.4(AARS2):c.2356G>A:p.Ala786Thr	coding	Pathogenic
6	44303068	C	T	C44303068T	AARS2	NM_020745.4(AARS2):c.2253G>A:p.Gly751=	coding	Benign/Likely_benign
6	44303133	C	T	C44303133T	AARS2	NM_020745.4(AARS2):c.2188G>A:p.Val730Met	coding	Benign
6	44303177	T	C	T44303177C	AARS2	NM_020745.4(AARS2):c.2146-2A>G	noncoding	Pathogenic
6	44303398	C	T	C44303398T	AARS2	NM_020745.4(AARS2):c.2033G>A:p.Arg678Gln	coding	Benign/Likely_benign
6	44303404	T	G	T44303404G	AARS2	NM_020745.4(AARS2):c.2027A>C:p.Gln676Pro	coding	Pathogenic
6	44303720	G	A	G44303720A	AARS2	NM_020745.4(AARS2):c.2008-297C>T	noncoding	Benign
6	44303924	G	A	G44303924A	AARS2	NM_020745.4(AARS2):c.2007+257C>T	noncoding	Benign
6	44304136	T	A	T44304136A	AARS2	NM_020745.4(AARS2):c.2007+45A>T	noncoding	Benign
6	44304173	G	A	G44304173A	AARS2	NM_020745.4(AARS2):c.2007+8C>T	noncoding	Benign
6	44304317	C	T	C44304317T	AARS2	NM_020745.4(AARS2):c.1871G>A:p.Trp624Ter	coding	Pathogenic
6	44304512	G	A	G44304512A	AARS2	NM_020745.4(AARS2):c.1774C>T:p.Arg592Trp	coding	Pathogenic/Likely_pathogenic
6	44304546	A	G	A44304546G	AARS2	NM_020745.4(AARS2):c.1753-13T>C	noncoding	Benign
6	44304547	G	C	G44304547C	AARS2	NM_020745.4(AARS2):c.1753-14C>G	noncoding	Benign
6	44304645	C	T	C44304645T	AARS2	NM_020745.4(AARS2):c.1752G>A:p.Glu584=	coding	Benign
6	44305072	G	A	G44305072A	AARS2	NM_020745.4(AARS2):c.1561C>T:p.Arg521Ter	coding	Pathogenic
6	44305075	G	A	G44305075A	AARS2	NM_020745.4(AARS2):c.1558C>T:p.Leu520=	coding	Benign
6	44305675	C	T	C44305675T	AARS2	NM_020745.4(AARS2):c.1412G>A:p.Arg471Gln	coding	Benign
6	44305689	G	A	G44305689A	AARS2	NM_020745.4(AARS2):c.1398C>T:p.Ser466=	coding	Benign/Likely_benign
6	44305965	C	A	C44305965A	AARS2	NM_020745.4(AARS2):c.1301-179G>T	noncoding	Benign
6	44306367	C	T	C44306367T	AARS2	NM_020745.4(AARS2):c.1213G>A:p.Glu405Lys	coding	Pathogenic
6	44306384	T	C	T44306384C	AARS2	NM_020745.4(AARS2):c.1196A>G:p.Asn399Ser	coding	Benign/Likely_benign
6	44306509	T	C	T44306509C	AARS2	NM_020745.4(AARS2):c.1173A>G:p.Gln391=	coding	Benign/Likely_benign
6	44306634	A	T	A44306634T	AARS2	NM_020745.4(AARS2):c.1150-102T>A	noncoding	Benign
6	44306714	G	A	G44306714A	AARS2	NM_020745.4(AARS2):c.1150-182C>T	noncoding	Benign
6	44307054	C	G	C44307054G	AARS2	NM_020745.4(AARS2):c.1041-23G>C	noncoding	Benign
6	44307410	G	A	G44307410A	AARS2	NM_020745.4(AARS2):c.895-16C>T	noncoding	Benign
6	44309975	T	C	T44309975C	AARS2	NM_020745.4(AARS2):c.894+324A>G	noncoding	Benign
6	44310311	G	A	G44310311A	AARS2	NM_020745.4(AARS2):c.882C>T:p.Asn294=	coding	Benign
6	44310332	G	T	G44310332T	AARS2	NM_020745.4(AARS2):c.861C>A:p.Asp287Glu	coding	Benign
6	44310980	C	T	C44310980T	AARS2	NM_020745.4(AARS2):c.749+14G>A	noncoding	Benign
6	44311065	G	A	G44311065A	AARS2	NM_020745.4(AARS2):c.678C>T:p.Tyr226=	coding	Benign
6	44311148	G	A	G44311148A	AARS2	NM_020745.4(AARS2):c.595C>T:p.Arg199Cys	coding	Pathogenic/Likely_pathogenic
6	44311507	A	C	A44311507C	AARS2	NM_020745.4(AARS2):c.464T>G:p.Leu155Arg	coding	Pathogenic
6	44311675	T	C	T44311675C	AARS2	NM_020745.4(AARS2):c.436-140A>G	noncoding	Benign
6	44312087	C	T	C44312087T	AARS2	NM_020745.4(AARS2):c.420G>A:p.Gly140=	coding	Benign
6	44312544	T	C	T44312544C	AARS2	NM_020745.4(AARS2):c.244-281A>G	noncoding	Benign
6	44313075	C	T	C44313075T	AARS2	NM_020745.4(AARS2):c.243+6G>A	noncoding	Benign
6	44313175	A	C	A44313175C	AARS2	NM_020745.4(AARS2):c.149T>G:p.Phe50Cys	coding	Pathogenic
6	44313364	G	A	G44313364A	AARS2	NM_020745.3(AARS2):c.-41C>T	noncoding	Benign
6	44426685	T	C	T44426685C	CDC5L	NM_001253.4(CDC5L):c.1854T>C:p.His618=	coding	Benign
6	45328407	T	C	T45328407C	RUNX2	NM_001024630.4(RUNX2):c.-120T>C	coding	Benign
6	45328647	G	T	G45328647T	RUNX2	NM_001024630.4(RUNX2):c.-66-14G>T	noncoding	Benign
6	45328663	T	C	T45328663C	RUNX2	NM_001024630.4(RUNX2):c.-64T>C	coding	Benign
6	45328729	G	A	G45328729A	RUNX2	NM_001024630.4(RUNX2):c.3G>A:p.Met1Ile	coding	Pathogenic
6	45422658	G	T	G45422658T	RUNX2	NM_001024630.4(RUNX2):c.124G>T:p.Val42Leu	coding	Benign
6	45422774	G	A	G45422774A	RUNX2	NM_001024630.4(RUNX2):c.240G>A:p.Ala80=	coding	Benign
6	45422788	C	T	C45422788T	RUNX2	NM_001024630.4(RUNX2):c.254C>T:p.Ala85Val	coding	Benign/Likely_benign
6	45422812	T	A	T45422812A	RUNX2	NM_001024630.4(RUNX2):c.278T>A:p.Leu93Ter	coding	Pathogenic
6	45422905	C	A	C45422905A	RUNX2	NM_001024630.4(RUNX2):c.371C>A:p.Ser124Ter	coding	Pathogenic
6	45422996	G	C	G45422996C	RUNX2	NM_001024630.4(RUNX2):c.423+39G>C	noncoding	Benign
6	45431915	G	A	G45431915A	RUNX2	NM_001024630.4(RUNX2):c.476G>A:p.Gly159Asp	coding	Pathogenic
6	45431945	G	C	G45431945C	RUNX2	NM_001024630.4(RUNX2):c.506G>C:p.Arg169Pro	coding	Pathogenic
6	45431962	A	G	A45431962G	RUNX2	NM_001024630.4(RUNX2):c.523A>G:p.Met175Val	coding	Benign
6	45431963	T	G	T45431963G	RUNX2	NM_001024630.4(RUNX2):c.524T>G:p.Met175Arg	coding	Pathogenic
6	45431988	C	T	C45431988T	RUNX2	NM_001024630.4(RUNX2):c.549C>T:p.Asn183=	coding	Benign
6	45432008	G	A	G45432008A	RUNX2	NM_001024630.4(RUNX2):c.569G>A:p.Arg190Gln	coding	Pathogenic/Likely_pathogenic
6	45432011	G	A	G45432011A	RUNX2	NM_001024630.4(RUNX2):c.572G>A:p.Ser191Asn	coding	Pathogenic
6	45432016	C	T	C45432016T	RUNX2	NM_001024630.4(RUNX2):c.577C>T:p.Arg193Ter	coding	Pathogenic
6	45437938	T	C	T45437938C	RUNX2	NM_001024630.4(RUNX2):c.581-9T>C	noncoding	Benign
6	45437964	A	G	A45437964G	RUNX2	NM_001024630.4(RUNX2):c.598A>G:p.Thr200Ala	coding	Pathogenic
6	45438029	A	G	A45438029G	RUNX2	NM_001024630.4(RUNX2):c.663A>G:p.Val221=	coding	Benign
6	45438039	C	T	C45438039T	RUNX2	NM_001024630.4(RUNX2):c.673C>T:p.Arg225Trp	coding	Pathogenic
6	45438040	G	A	G45438040A	RUNX2	NM_001024630.4(RUNX2):c.674G>A:p.Arg225Gln	coding	Pathogenic
6	45491993	C	T	C45491993T	RUNX2	NM_001024630.4(RUNX2):c.738C>T:p.Leu246=	coding	Pathogenic
6	45492124	A	T	A45492124T	RUNX2	NM_001024630.4(RUNX2):c.859+10A>T	noncoding	Benign
6	45512277	G	A	G45512277A	RUNX2	NM_001024630.4(RUNX2):c.891G>A:p.Trp297Ter	coding	Pathogenic
6	45512319	G	A	G45512319A	RUNX2	NM_001024630.4(RUNX2):c.933G>A:p.Thr311=	coding	Benign
6	45545280	C	T	C45545280T	RUNX2	NM_001024630.4(RUNX2):c.1085C>T:p.Ala362Val	coding	Pathogenic
6	45546910	C	T	C45546910T	RUNX2	NM_001024630.4(RUNX2):c.1171C>T:p.Arg391Ter	coding	Pathogenic
6	45547270	G	A	G45547270A	RUNX2	NM_001024630.4(RUNX2):c.1531G>A:p.Gly511Ser	coding	Benign/Likely_benign
6	45547304	G	C	G45547304C	RUNX2	NM_001024630.4(RUNX2):c.1565G>C:p.Ter522Ser	coding	Pathogenic
6	45547352	C	T	C45547352T	RUNX2	NM_001024630.4(RUNX2):c.*47C>T	noncoding	Benign
6	45547583	G	A	G45547583A	RUNX2	NM_001024630.4(RUNX2):c.*278G>A	noncoding	Benign
6	45547609	G	A	G45547609A	RUNX2	NM_001024630.4(RUNX2):c.*304G>A	noncoding	Benign
6	45547623	C	T	C45547623T	RUNX2	NM_001024630.4(RUNX2):c.*318C>T	noncoding	Benign
6	45547904	T	G	T45547904G	RUNX2	NM_001024630.4(RUNX2):c.*599T>G	noncoding	Benign
6	45548106	G	A	G45548106A	RUNX2	NM_001024630.4(RUNX2):c.*801G>A	noncoding	Benign
6	45548389	C	A	C45548389A	RUNX2	NM_001024630.4(RUNX2):c.*1084C>A	noncoding	Benign
6	45548438	A	T	A45548438T	RUNX2	NM_001024630.4(RUNX2):c.*1133A>T	noncoding	Benign
6	45548753	C	T	C45548753T	RUNX2	NM_001024630.4(RUNX2):c.*1448C>T	noncoding	Benign
6	45548839	T	C	T45548839C	RUNX2	NM_001024630.4(RUNX2):c.*1534T>C	noncoding	Benign
6	45549067	G	C	G45549067C	RUNX2	NM_001024630.4(RUNX2):c.*1762G>C	noncoding	Benign
6	45549164	A	G	A45549164G	RUNX2	NM_001024630.4(RUNX2):c.*1859A>G	noncoding	Benign
6	45549224	C	T	C45549224T	RUNX2	NM_001024630.4(RUNX2):c.*1919C>T	noncoding	Benign
6	45549306	G	A	G45549306A	RUNX2	NM_001024630.4(RUNX2):c.*2001G>A	noncoding	Benign
6	45549504	A	G	A45549504G	RUNX2	NM_001024630.4(RUNX2):c.*2199A>G	noncoding	Benign
6	45549579	C	T	C45549579T	RUNX2	NM_001024630.4(RUNX2):c.*2274C>T	noncoding	Benign
6	45549917	C	G	C45549917G	RUNX2	NM_001024630.4(RUNX2):c.*2612C>G	noncoding	Benign
6	45549962	T	G	T45549962G	RUNX2	NM_001024630.4(RUNX2):c.*2657T>G	noncoding	Benign
6	45550131	G	A	G45550131A	RUNX2	NM_001024630.4(RUNX2):c.*2826G>A	noncoding	Benign
6	45550335	C	T	C45550335T	RUNX2	NM_001024630.4(RUNX2):c.*3030C>T	noncoding	Benign
6	45550464	C	T	C45550464T	RUNX2	NM_001024630.4(RUNX2):c.*3159C>T	noncoding	Benign
6	45550465	G	T	G45550465T	RUNX2	NM_001024630.4(RUNX2):c.*3160G>T	noncoding	Benign
6	45550650	G	A	G45550650A	RUNX2	NM_001024630.4(RUNX2):c.*3345G>A	noncoding	Benign
6	45550731	C	T	C45550731T	RUNX2	NM_001024630.4(RUNX2):c.*3426C>T	noncoding	Benign
6	45550897	A	G	A45550897G	RUNX2	NM_001024630.4(RUNX2):c.*3592A>G	noncoding	Benign
6	45903148	T	A	T45903148A	CLIC5	NM_016929.5(CLIC5):c.696A>T:p.Ala232=	coding	Benign
6	45912742	A	G	A45912742G	CLIC5	NM_016929.5(CLIC5):c.588+1486T>C	noncoding	Benign
6	45912748	A	G	A45912748G	CLIC5	NM_016929.5(CLIC5):c.588+1480T>C	noncoding	Benign
6	45914301	C	T	C45914301T	CLIC5	NM_016929.5(CLIC5):c.515G>A:p.Arg172Gln	coding	Benign
6	45941612	G	T	G45941612T	CLIC5	NM_016929.5(CLIC5):c.341C>A:p.Ala114Glu	coding	Benign/Likely_benign
6	45949262	G	T	G45949262T	CLIC5	NM_016929.5(CLIC5):c.293C>A:p.Pro98His	coding	Benign/Likely_benign
6	45949404	G	T	G45949404T	CLIC5	NM_016929.5(CLIC5):c.174-23C>A	noncoding	Benign
6	45955212	A	T	A45955212T	CLIC5	NM_016929.5(CLIC5):c.96T>A:p.Cys32Ter	coding	Pathogenic
6	46079721	C	T	C46079721T	CLIC5	NM_001114086.2(CLIC5):c.522G>A:p.Glu174=	coding	Benign
6	46079903	T	C	T46079903C	CLIC5	NM_001114086.2(CLIC5):c.340A>G:p.Thr114Ala	coding	Benign
6	46079944	T	A	T46079944A	CLIC5	NM_001114086.2(CLIC5):c.299A>T:p.Gln100Leu	coding	Benign
6	46080233	C	T	C46080233T	CLIC5	NM_001114086.2(CLIC5):c.10G>A:p.Glu4Lys	coding	Benign/Likely_benign
6	46080263	T	C	T46080263C	CLIC5	NM_001114086.2(CLIC5):c.-21A>G	noncoding	Benign
6	46655916	C	T	C46655916T	SLC25A27	NM_004277.5(SLC25A27):c.180C>T:p.Asp60=	coding	Benign
6	46691703	C	A	C46691703A	TDRD6	NM_001010870.3(TDRD6):c.3575C>A:p.Thr1192Lys	coding	Benign
6	46691855	G	A	G46691855A	TDRD6	NM_001010870.3(TDRD6):c.3727G>A:p.Val1243Met	coding	Benign
6	46711586	C	G	C46711586G	PLA2G7	NM_005084.4(PLA2G7):c.573G>C:p.Lys191Asn	coding	Benign
6	47009028	T	G	T47009028G	ADGRF1	NM_153840.4(ADGRF1):c.2407A>C:p.Thr803Pro	coding	Benign
6	47024207	G	C	G47024207C	ADGRF1	NM_153840.4(ADGRF1):c.288C>G:p.Ser96Arg	coding	Benign
6	47234782	T	C	T47234782C	TNFRSF21	NM_014452.5(TNFRSF21):c.1626A>G:p.Pro542=	coding	Benign
6	47284022	C	T	C47284022T	TNFRSF21	NM_014452.5(TNFRSF21):c.1159G>A:p.Ala387Thr	coding	Benign
6	47286488	G	A	G47286488A	TNFRSF21	NM_014452.5(TNFRSF21):c.204C>T:p.Asp68=	coding	Benign
6	47477804	C	A	C47477804A	CD2AP	NM_012120.3(CD2AP):c.-441C>A	noncoding	Benign
6	47477804	C	G	C47477804G	CD2AP	NM_012120.3(CD2AP):c.-441C>G	noncoding	Benign
6	47477948	G	C	G47477948C	CD2AP	NM_012120.3(CD2AP):c.-297G>C	noncoding	Benign
6	47477978	G	A	G47477978A	CD2AP	NM_012120.3(CD2AP):c.-267G>A	noncoding	Benign
6	47478053	A	C	A47478053C	CD2AP	NM_012120.3(CD2AP):c.-192A>C	noncoding	Benign
6	47478191	T	A	T47478191A	CD2AP	NM_012120.3(CD2AP):c.-54T>A	noncoding	Benign
6	47503317	T	C	T47503317C	CD2AP	NM_012120.3(CD2AP):c.42T>C:p.His14=	coding	Benign
6	47503453	A	G	A47503453G	CD2AP	NM_012120.3(CD2AP):c.165+13A>G	noncoding	Benign
6	47533655	A	G	A47533655G	CD2AP	NM_012120.3(CD2AP):c.219A>G:p.Glu73=	coding	Benign
6	47554677	A	G	A47554677G	CD2AP	NM_012120.3(CD2AP):c.452A>G:p.Asn151Ser	coding	Benign
6	47574204	C	T	C47574204T	CD2AP	NM_012120.3(CD2AP):c.682C>T:p.Arg228Trp	coding	Benign
6	47574218	C	T	C47574218T	CD2AP	NM_012120.3(CD2AP):c.696C>T:p.Ser232=	coding	Benign
6	47576586	C	T	C47576586T	CD2AP	NM_012120.3(CD2AP):c.792C>T:p.Thr264=	coding	Benign/Likely_benign
6	47576998	C	A	C47576998A	CD2AP	NM_012120.3(CD2AP):c.809-11C>A	noncoding	Benign
6	47580869	A	G	A47580869G	CD2AP	NM_012120.3(CD2AP):c.1014A>G:p.Pro338=	coding	Benign/Likely_benign
6	47580890	T	A	T47580890A	CD2AP	NM_012120.3(CD2AP):c.1035T>A:p.Ala345=	coding	Benign
6	47580901	G	A	G47580901A	CD2AP	NM_012120.3(CD2AP):c.1045+1G>A	coding	Pathogenic
6	47595872	A	G	A47595872G	CD2AP	NM_012120.3(CD2AP):c.1120A>G:p.Thr374Ala	coding	Benign
6	47595933	C	A	C47595933A	CD2AP	NM_012120.3(CD2AP):c.1181C>A:p.Pro394Gln	coding	Benign
6	47595956	C	T	C47595956T	CD2AP	NM_012120.3(CD2AP):c.1204C>T:p.Leu402=	coding	Benign
6	47599281	G	A	G47599281A	CD2AP	NM_012120.3(CD2AP):c.1275-20G>A	noncoding	Benign
6	47606289	T	G	T47606289G	CD2AP	NM_012120.3(CD2AP):c.1530+12T>G	noncoding	Benign
6	47607912	T	A	T47607912A	CD2AP	NM_012120.3(CD2AP):c.1531-15T>A	noncoding	Benign
6	47608036	G	T	G47608036T	CD2AP	NM_012120.3(CD2AP):c.1632+8G>T	noncoding	Benign
6	47609233	T	A	T47609233A	CD2AP	NM_012120.3(CD2AP):c.1743T>A:p.Asn581Lys	coding	Benign
6	47612492	C	T	C47612492T	CD2AP	NM_012120.3(CD2AP):c.1834C>T:p.Arg612Ter	coding	Pathogenic
6	47624205	A	G	A47624205G	CD2AP	NM_012120.3(CD2AP):c.1898A>G:p.Lys633Arg	coding	Benign
6	47624247	C	G	C47624247G	CD2AP	NM_012120.3(CD2AP):c.*20C>G	noncoding	Benign
6	47624387	A	G	A47624387G	CD2AP	NM_012120.3(CD2AP):c.*160A>G	noncoding	Benign
6	47624413	A	T	A47624413T	CD2AP	NM_012120.3(CD2AP):c.*186A>T	noncoding	Benign
6	47624727	A	G	A47624727G	CD2AP	NM_012120.3(CD2AP):c.*500A>G	noncoding	Benign
6	47624729	A	G	A47624729G	CD2AP	NM_012120.3(CD2AP):c.*502A>G	noncoding	Benign
6	47625055	G	C	G47625055C	CD2AP	NM_012120.3(CD2AP):c.*828G>C	noncoding	Benign
6	47625244	T	A	T47625244A	CD2AP	NM_012120.3(CD2AP):c.*1017T>A	noncoding	Benign
6	47625435	C	A	C47625435A	CD2AP	NM_012120.3(CD2AP):c.*1208C>A	noncoding	Benign
6	47626145	A	C	A47626145C	CD2AP	NM_012120.3(CD2AP):c.*1918A>C	noncoding	Benign
6	47626266	T	C	T47626266C	CD2AP	NM_012120.3(CD2AP):c.*2039T>C	noncoding	Benign
6	47626468	A	T	A47626468T	CD2AP	NM_012120.3(CD2AP):c.*2241A>T	noncoding	Benign
6	47626566	T	C	T47626566C	CD2AP	NM_012120.3(CD2AP):c.*2339T>C	noncoding	Benign
6	47626582	G	A	G47626582A	CD2AP	NM_012120.3(CD2AP):c.*2355G>A	noncoding	Benign
6	47626986	G	A	G47626986A	CD2AP	NM_012120.3(CD2AP):c.*2759G>A	noncoding	Benign
6	47795524	G	T	G47795524T	OPN5	NM_181744.3(OPN5):c.717G>T:p.Arg239=	coding	Benign
6	49430402	C	T	C49430402T	MMUT	NM_000255.4(MMUT):c.*1326G>A	noncoding	Benign
6	49431148	T	C	T49431148C	MMUT	NM_000255.4(MMUT):c.*580A>G	noncoding	Benign
6	49431781	G	A	G49431781A	MMUT	NM_000255.4(MMUT):c.2200C>T:p.Gln734Ter	coding	Pathogenic
6	49431785	G	A	G49431785A	MMUT	NM_000255.4(MMUT):c.2196C>T:p.Ala732=	coding	Benign
6	49431802	G	A	G49431802A	MMUT	NM_000255.4(MMUT):c.2179C>T:p.Arg727Ter	coding	Pathogenic
6	49431831	C	A	C49431831A	MMUT	NM_000255.4(MMUT):c.2150G>T:p.Gly717Val	coding	Pathogenic
6	49431859	G	C	G49431859C	MMUT	NM_000255.4(MMUT):c.2125-3C>G	noncoding	Pathogenic
6	49435473	C	G	C49435473G	MMUT	NM_000255.4(MMUT):c.2107G>C:p.Gly703Arg	coding	Pathogenic
6	49435500	G	A	G49435500A	MMUT	NM_000255.4(MMUT):c.2080C>T:p.Arg694Trp	coding	Pathogenic
6	49435526	A	C	A49435526C	MMUT	NM_000255.4(MMUT):c.2054T>G:p.Leu685Arg	coding	Pathogenic
6	49435569	T	C	T49435569C	MMUT	NM_000255.4(MMUT):c.2011A>G:p.Ile671Val	coding	Benign
6	49435588	C	T	C49435588T	MMUT	NM_000255.4(MMUT):c.1992G>A:p.Ala664=	coding	Benign/Likely_benign
6	49435605	G	A	G49435605A	MMUT	NM_000255.4(MMUT):c.1975C>T:p.Gln659Ter	coding	Pathogenic
6	49435625	T	C	T49435625C	MMUT	NM_000255.4(MMUT):c.1957-2A>G	noncoding	Pathogenic
6	49440219	C	T	C49440219T	MMUT	NM_000255.4(MMUT):c.1943G>A:p.Gly648Asp	coding	Pathogenic
6	49440264	A	C	A49440264C	MMUT	NM_000255.4(MMUT):c.1898T>G:p.Val633Gly	coding	Pathogenic/Likely_pathogenic
6	49440273	C	T	C49440273T	MMUT	NM_000255.4(MMUT):c.1889G>A:p.Gly630Glu	coding	Pathogenic/Likely_pathogenic
6	49440277	T	C	T49440277C	MMUT	NM_000255.4(MMUT):c.1885A>G:p.Arg629Gly	coding	Pathogenic
6	49440282	T	C	T49440282C	MMUT	NM_000255.4(MMUT):c.1880A>G:p.His627Arg	coding	Pathogenic/Likely_pathogenic
6	49440288	T	C	T49440288C	MMUT	NM_000255.4(MMUT):c.1874A>G:p.Asp625Gly	coding	Pathogenic
6	49440288	T	G	T49440288G	MMUT	NM_000255.4(MMUT):c.1874A>C:p.Asp625Ala	coding	Pathogenic
6	49440295	C	T	C49440295T	MMUT	NM_000255.4(MMUT):c.1867G>A:p.Gly623Arg	coding	Pathogenic
6	49440309	A	G	A49440309G	MMUT	NM_000255.4(MMUT):c.1853T>C:p.Leu618Pro	coding	Pathogenic
6	49441883	G	A	G49441883A	MMUT	NM_000255.4(MMUT):c.1765C>T:p.Gln589Ter	coding	Pathogenic
6	49441907	G	A	G49441907A	MMUT	NM_000255.4(MMUT):c.1741C>T:p.Arg581Ter	coding	Pathogenic
6	49441972	C	G	C49441972G	MMUT	NM_000255.4(MMUT):c.1677-1G>C	coding	Pathogenic
6	49441972	C	T	C49441972T	MMUT	NM_000255.4(MMUT):c.1677-1G>A	coding	Pathogenic
6	49442135	T	A	T49442135A	MMUT	NM_000255.4(MMUT):c.1677-164A>T	noncoding	Benign
6	49444562	T	G	T49444562G	MMUT	NM_000255.4(MMUT):c.1676+77A>C	noncoding	Benign
6	49444652	C	T	C49444652T	MMUT	NM_000255.4(MMUT):c.1663G>A:p.Ala555Thr	coding	Pathogenic/Likely_pathogenic
6	49444660	G	A	G49444660A	MMUT	NM_000255.4(MMUT):c.1655C>T:p.Ala552Val	coding	Pathogenic
6	49444716	A	T	A49444716T	MMUT	NM_000255.4(MMUT):c.1599T>A:p.Cys533Ter	coding	Pathogenic
6	49444720	C	T	C49444720T	MMUT	NM_000255.4(MMUT):c.1595G>A:p.Arg532His	coding	Benign
6	49447669	C	A	C49447669A	MMUT	NM_000255.4(MMUT):c.1560+1G>T	noncoding	Pathogenic
6	49447677	A	G	A49447677G	MMUT	NM_000255.4(MMUT):c.1553T>C:p.Leu518Pro	coding	Pathogenic
6	49447699	G	A	G49447699A	MMUT	NM_000255.4(MMUT):c.1531C>T:p.Arg511Ter	coding	Pathogenic
6	49447735	C	T	C49447735T	MMUT	NM_000255.4(MMUT):c.1495G>A:p.Ala499Thr	coding	Benign/Likely_benign
6	49447741	C	A	C49447741A	MMUT	NM_000255.4(MMUT):c.1489G>T:p.Glu497Ter	coding	Pathogenic/Likely_pathogenic
6	49447749	A	T	A49447749T	MMUT	NM_000255.4(MMUT):c.1481T>A:p.Leu494Ter	coding	Pathogenic
6	49447786	C	G	C49447786G	MMUT	NM_000255.4(MMUT):c.1445-1G>C	coding	Pathogenic
6	49447787	T	C	T49447787C	MMUT	NM_000255.4(MMUT):c.1445-2A>G	noncoding	Pathogenic
6	49448840	G	A	G49448840A	MMUT	NM_000255.4(MMUT):c.1420C>T:p.Arg474Ter	coding	Pathogenic
6	49448861	G	A	G49448861A	MMUT	NM_000255.4(MMUT):c.1399C>T:p.Arg467Ter	coding	Pathogenic
6	49448909	C	A	C49448909A	MMUT	NM_000255.4(MMUT):c.1351G>T:p.Glu451Ter	coding	Pathogenic/Likely_pathogenic
6	49449112	T	C	T49449112C	MMUT	NM_000255.4(MMUT):c.1333-185A>G	noncoding	Benign
6	49451511	G	C	G49451511C	MMUT	NM_000255.4(MMUT):c.1287C>G:p.Tyr429Ter	coding	Pathogenic
6	49451518	C	T	C49451518T	MMUT	NM_000255.4(MMUT):c.1280G>A:p.Gly427Asp	coding	Pathogenic
6	49451521	C	T	C49451521T	MMUT	NM_000255.4(MMUT):c.1277G>A:p.Gly426Glu	coding	Pathogenic
6	49451527	G	A	G49451527A	MMUT	NM_000255.4(MMUT):c.1271C>T:p.Pro424Leu	coding	Pathogenic
6	49451591	G	A	G49451591A	MMUT	NM_000255.4(MMUT):c.1207C>T:p.Arg403Ter	coding	Pathogenic
6	49451634	A	T	A49451634T	MMUT	NM_000255.4(MMUT):c.1164T>A:p.Asn388Lys	coding	Pathogenic
6	49451668	G	T	G49451668T	MMUT	NM_000255.4(MMUT):c.1130C>A:p.Ala377Glu	coding	Pathogenic
6	49451692	C	T	C49451692T	MMUT	NM_000255.4(MMUT):c.1106G>A:p.Arg369His	coding	Pathogenic
6	49451693	G	A	G49451693A	MMUT	NM_000255.4(MMUT):c.1105C>T:p.Arg369Cys	coding	Pathogenic
6	49451701	T	C	T49451701C	MMUT	NM_000255.4(MMUT):c.1097A>G:p.Asn366Ser	coding	Pathogenic
6	49451715	C	T	C49451715T	MMUT	NM_000255.4(MMUT):c.1084-1G>A	coding	Pathogenic
6	49451716	T	C	T49451716C	MMUT	NM_000255.4(MMUT):c.1084-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	49451764	T	C	T49451764C	MMUT	NM_000255.4(MMUT):c.1084-50A>G	noncoding	Benign
6	49453583	A	T	A49453583T	MMUT	NM_000255.4(MMUT):c.1083+2T>A	noncoding	Pathogenic
6	49453628	A	C	A49453628C	MMUT	NM_000255.4(MMUT):c.1040T>G:p.Leu347Arg	coding	Pathogenic
6	49453643	G	T	G49453643T	MMUT	NM_000255.4(MMUT):c.1025C>A:p.Ser342Ter	coding	Pathogenic
6	49453686	G	A	G49453686A	MMUT	NM_000255.4(MMUT):c.982C>T:p.Leu328Phe	coding	Pathogenic/Likely_pathogenic
6	49453691	C	T	C49453691T	MMUT	NM_000255.4(MMUT):c.977G>A:p.Arg326Lys	coding	Pathogenic
6	49453694	C	T	C49453694T	MMUT	NM_000255.4(MMUT):c.974G>A:p.Gly325Asp	coding	Pathogenic
6	49453698	C	T	C49453698T	MMUT	NM_000255.4(MMUT):c.970G>A:p.Ala324Thr	coding	Pathogenic/Likely_pathogenic
6	49453721	T	C	T49453721C	MMUT	NM_000255.4(MMUT):c.947A>G:p.Tyr316Cys	coding	Pathogenic
6	49453733	C	A	C49453733A	MMUT	NM_000255.4(MMUT):c.935G>T:p.Gly312Val	coding	Pathogenic
6	49453741	C	T	C49453741T	MMUT	NM_000255.4(MMUT):c.927G>A:p.Trp309Ter	coding	Pathogenic
6	49455834	G	C	G49455834C	MMUT	NM_000255.4(MMUT):c.911+246C>G	noncoding	Benign
6	49456140	C	T	C49456140T	MMUT	NM_000255.4(MMUT):c.851G>A:p.Gly284Glu	coding	Pathogenic
6	49456141	C	A	C49456141A	MMUT	NM_000255.4(MMUT):c.850G>T:p.Gly284Ter	coding	Pathogenic
6	49456141	C	T	C49456141T	MMUT	NM_000255.4(MMUT):c.850G>A:p.Gly284Arg	coding	Pathogenic
6	49456149	A	G	A49456149G	MMUT	NM_000255.4(MMUT):c.842T>C:p.Leu281Ser	coding	Pathogenic
6	49456163	C	G	C49456163G	MMUT	NM_000255.4(MMUT):c.828G>C:p.Glu276Asp	coding	Pathogenic
6	49457689	A	T	A49457689T	MMUT	NM_000255.4(MMUT):c.753+2T>A	noncoding	Pathogenic
6	49457733	T	C	T49457733C	MMUT	NM_000255.4(MMUT):c.711A>G:p.Pro237=	coding	Benign
6	49457751	G	C	G49457751C	MMUT	NM_000255.4(MMUT):c.693C>G:p.Tyr231Ter	coding	Pathogenic
6	49457753	A	T	A49457753T	MMUT	NM_000255.4(MMUT):c.691T>A:p.Tyr231Asn	coding	Pathogenic
6	49457755	G	C	G49457755C	MMUT	NM_000255.4(MMUT):c.689C>G:p.Thr230Arg	coding	Pathogenic
6	49457762	G	A	G49457762A	MMUT	NM_000255.4(MMUT):c.682C>T:p.Arg228Ter	coding	Pathogenic
6	49457774	C	A	C49457774A	MMUT	NM_000255.4(MMUT):c.670G>T:p.Glu224Ter	coding	Pathogenic/Likely_pathogenic
6	49457789	T	A	T49457789A	MMUT	NM_000255.4(MMUT):c.655A>T:p.Asn219Tyr	coding	Pathogenic
6	49457790	T	G	T49457790G	MMUT	NM_000255.4(MMUT):c.654A>C:p.Gln218His	coding	Pathogenic/Likely_pathogenic
6	49457791	T	C	T49457791C	MMUT	NM_000255.4(MMUT):c.653A>G:p.Gln218Arg	coding	Pathogenic
6	49457801	C	A	C49457801A	MMUT	NM_000255.4(MMUT):c.643G>T:p.Gly215Cys	coding	Pathogenic/Likely_pathogenic
6	49457801	C	T	C49457801T	MMUT	NM_000255.4(MMUT):c.643G>A:p.Gly215Ser	coding	Pathogenic
6	49457808	C	T	C49457808T	MMUT	NM_000255.4(MMUT):c.636G>A:p.Lys212=	coding	Benign
6	49457837	C	T	C49457837T	MMUT	NM_000255.4(MMUT):c.607G>A:p.Gly203Arg	coding	Pathogenic
6	49457872	G	T	G49457872T	MMUT	NM_000255.4(MMUT):c.572C>A:p.Ala191Glu	coding	Pathogenic
6	49457878	T	A	T49457878A	MMUT	NM_000255.4(MMUT):c.566A>T:p.Asn189Ile	coding	Pathogenic
6	49457884	G	C	G49457884C	MMUT	NM_000255.4(MMUT):c.560C>G:p.Thr187Ser	coding	Pathogenic
6	49457923	A	G	A49457923G	MMUT	NM_000255.4(MMUT):c.521T>C:p.Phe174Ser	coding	Pathogenic
6	49457977	T	A	T49457977A	MMUT	NM_000255.4(MMUT):c.467A>T:p.Asp156Val	coding	Pathogenic
6	49457983	C	T	C49457983T	MMUT	NM_000255.4(MMUT):c.461G>A:p.Arg154His	coding	Benign/Likely_benign
6	49457990	G	A	G49457990A	MMUT	NM_000255.4(MMUT):c.454C>T:p.Arg152Ter	coding	Pathogenic
6	49458029	C	T	C49458029T	MMUT	NM_000255.4(MMUT):c.415G>A:p.Asp139Asn	coding	Pathogenic
6	49458047	C	T	C49458047T	MMUT	NM_000255.4(MMUT):c.397G>A:p.Gly133Arg	coding	Pathogenic
6	49458050	G	A	G49458050A	MMUT	NM_000255.4(MMUT):c.394C>T:p.Gln132Ter	coding	Pathogenic
6	49458305	G	A	G49458305A	MMUT	NM_000255.4(MMUT):c.386-247C>T	noncoding	Benign
6	49459089	G	T	G49459089T	MMUT	NM_000255.4(MMUT):c.378C>A:p.Asn126Lys	coding	Pathogenic
6	49459118	C	A	C49459118A	MMUT	NM_000255.4(MMUT):c.349G>T:p.Glu117Ter	coding	Pathogenic
6	49459137	A	C	A49459137C	MMUT	NM_000255.4(MMUT):c.330T>G:p.Tyr110Ter	coding	Pathogenic
6	49459138	T	C	T49459138C	MMUT	NM_000255.4(MMUT):c.329A>G:p.Tyr110Cys	coding	Pathogenic
6	49459144	C	T	C49459144T	MMUT	NM_000255.4(MMUT):c.323G>A:p.Arg108His	coding	Pathogenic
6	49459145	G	A	G49459145A	MMUT	NM_000255.4(MMUT):c.322C>T:p.Arg108Cys	coding	Pathogenic
6	49459154	A	G	A49459154G	MMUT	NM_000255.4(MMUT):c.313T>C:p.Trp105Arg	coding	Pathogenic/Likely_pathogenic
6	49459168	T	C	T49459168C	MMUT	NM_000255.4(MMUT):c.299A>G:p.Tyr100Cys	coding	Pathogenic
6	49459183	G	C	G49459183C	MMUT	NM_000255.4(MMUT):c.284C>G:p.Pro95Arg	coding	Pathogenic
6	49459186	C	A	C49459186A	MMUT	NM_000255.4(MMUT):c.281G>T:p.Gly94Val	coding	Pathogenic
6	49459187	C	T	C49459187T	MMUT	NM_000255.4(MMUT):c.280G>A:p.Gly94Arg	coding	Pathogenic
6	49459189	C	T	C49459189T	MMUT	NM_000255.4(MMUT):c.278G>A:p.Arg93His	coding	Pathogenic
6	49459210	G	A	G49459210A	MMUT	NM_000255.4(MMUT):c.257C>T:p.Pro86Leu	coding	Pathogenic/Likely_pathogenic
6	49459307	T	A	T49459307A	MMUT	NM_000255.4(MMUT):c.160A>T:p.Lys54Ter	coding	Pathogenic
6	49459338	C	T	C49459338T	MMUT	NM_000255.4(MMUT):c.129G>A:p.Trp43Ter	coding	Pathogenic
6	49459358	G	A	G49459358A	MMUT	NM_000255.4(MMUT):c.109C>T:p.Gln37Ter	coding	Pathogenic
6	49459376	G	A	G49459376A	MMUT	NM_000255.4(MMUT):c.91C>T:p.Arg31Ter	coding	Pathogenic
6	49459379	G	A	G49459379A	MMUT	NM_000255.4(MMUT):c.88C>T:p.Gln30Ter	coding	Pathogenic
6	49459415	G	A	G49459415A	MMUT	NM_000255.4(MMUT):c.52C>T:p.Gln18Ter	coding	Pathogenic/Likely_pathogenic
6	49459448	G	A	G49459448A	MMUT	NM_000255.4(MMUT):c.19C>T:p.Gln7Ter	coding	Pathogenic
6	49459465	A	G	A49459465G	MMUT	NM_000255.4(MMUT):c.2T>C:p.Met1Thr	coding	Pathogenic
6	49459506	C	T	C49459506T	MMUT	NM_000255.4(MMUT):c.-39-1G>A	noncoding	Pathogenic
6	49459696	T	C	T49459696C	MMUT	NM_000255.4(MMUT):c.-39-191A>G	noncoding	Benign
6	49463261	T	A	T49463261A	MMUT	NM_000255.3(MMUT):c.-198A>T	noncoding	Benign
6	49606921	C	A	C49606921A	RHAG	NM_000324.2(RHAG):c.1139G>T:p.Gly380Val	coding	Pathogenic
6	49611023	C	T	C49611023T	RHAG	NM_000324.2(RHAG):c.1067+1G>A	noncoding	Pathogenic
6	49611146	C	T	C49611146T	RHAG	NM_000324.2(RHAG):c.946-1G>A	coding	Pathogenic
6	49612506	C	T	C49612506T	RHAG	NM_000324.2(RHAG):c.836G>A:p.Gly279Glu	coding	Pathogenic
6	49612534	C	T	C49612534T	RHAG	NM_000324.2(RHAG):c.808G>A:p.Val270Ile	coding	Benign
6	49618113	A	C	A49618113C	RHAG	NM_000324.2(RHAG):c.447T>G:p.Ile149Met	coding	Pathogenic
6	49619284	C	T	C49619284T	RHAG	NM_000324.2(RHAG):c.236G>A:p.Ser79Asn	coding	Pathogenic
6	49619326	A	G	A49619326G	RHAG	NM_000324.2(RHAG):c.194T>C:p.Phe65Ser	coding	Pathogenic
6	49619338	A	C	A49619338C	RHAG	NM_000324.2(RHAG):c.182T>G:p.Ile61Arg	coding	Pathogenic
6	49636655	C	T	C49636655T	RHAG	NM_000324.2(RHAG):c.157+1G>A	noncoding	Pathogenic
6	49636810	C	A	C49636810A	RHAG	NM_000324.2(RHAG):c.3G>T:p.Met1Ile	coding	Pathogenic
6	50729227	A	G	A50729227G	TFAP2D	NM_172238.4(TFAP2D):c.798A>G:p.Arg266=	coding	Benign
6	50745225	A	G	A50745225G	TFAP2D	NM_172238.4(TFAP2D):c.1002A>G:p.Arg334=	coding	Benign
6	50823543	C	G	C50823543G	TFAP2B	NM_003221.4(TFAP2B):c.218C>G:p.Pro73Arg	coding	Pathogenic
6	50823577	C	T	C50823577T	TFAP2B	NM_003221.4(TFAP2B):c.252C>T:p.Asp84=	coding	Benign
6	50823769	C	A	C50823769A	TFAP2B	NM_003221.4(TFAP2B):c.444C>A:p.Asp148Glu	coding	Benign
6	50823875	A	G	A50823875G	TFAP2B	NM_003221.4(TFAP2B):c.540+10A>G	noncoding	Benign
6	50828617	A	T	A50828617T	TFAP2B	NM_003221.4(TFAP2B):c.541-2A>T	noncoding	Pathogenic
6	50828684	G	A	G50828684A	TFAP2B	NM_003221.4(TFAP2B):c.601+5G>A	noncoding	Pathogenic
6	50836165	C	A	C50836165A	TFAP2B	NM_003221.4(TFAP2B):c.706C>A:p.Arg236Ser	coding	Pathogenic
6	50836165	C	T	C50836165T	TFAP2B	NM_003221.4(TFAP2B):c.706C>T:p.Arg236Cys	coding	Pathogenic
6	50836231	T	G	T50836231G	TFAP2B	NM_003221.4(TFAP2B):c.772T>G:p.Ser258Ala	coding	Benign
6	50837974	G	C	G50837974C	TFAP2B	NM_003221.4(TFAP2B):c.822-1G>C	noncoding	Pathogenic
6	50837977	C	A	C50837977A	TFAP2B	NM_003221.4(TFAP2B):c.824C>A:p.Ala275Asp	coding	Pathogenic
6	50838007	G	A	G50838007A	TFAP2B	NM_003221.4(TFAP2B):c.854G>A:p.Arg285Gln	coding	Pathogenic
6	50838051	C	T	C50838051T	TFAP2B	NM_003221.4(TFAP2B):c.898C>T:p.Arg300Cys	coding	Pathogenic
6	50840221	G	A	G50840221A	TFAP2B	NM_003221.4(TFAP2B):c.1006G>A:p.Val336Ile	coding	Benign
6	50843113	G	C	G50843113C	TFAP2B	NM_003221.4(TFAP2B):c.1104G>C:p.Thr368=	coding	Benign
6	50843168	C	T	C50843168T	TFAP2B	NM_003221.4(TFAP2B):c.1159C>T:p.Leu387=	coding	Benign
6	50843402	A	T	A50843402T	TFAP2B	NM_003221.4(TFAP2B):c.*10A>T	noncoding	Benign
6	50847620	G	T	G50847620T	TFAP2B	NM_003221.3(TFAP2B):c.*4228G>T	noncoding	Benign
6	51615688	G	T	G51615688T	PKHD1	NM_138694.4(PKHD1):c.*3393C>A	noncoding	Benign
6	51616055	T	C	T51616055C	PKHD1	NM_138694.4(PKHD1):c.*3026A>G	noncoding	Benign
6	51616056	G	A	G51616056A	PKHD1	NM_138694.4(PKHD1):c.*3025C>T	noncoding	Benign
6	51616517	T	C	T51616517C	PKHD1	NM_138694.4(PKHD1):c.*2564A>G	noncoding	Benign
6	51616873	T	C	T51616873C	PKHD1	NM_138694.4(PKHD1):c.*2208A>G	noncoding	Benign
6	51618707	A	G	A51618707G	PKHD1	NM_138694.4(PKHD1):c.*374T>C	noncoding	Benign
6	51619163	T	C	T51619163C	PKHD1	NM_138694.4(PKHD1):c.12143A>G:p.Gln4048Arg	coding	Benign
6	51619428	C	T	C51619428T	PKHD1	NM_138694.4(PKHD1):c.11878G>A:p.Val3960Ile	coding	Benign/Likely_benign
6	51619550	G	A	G51619550A	PKHD1	NM_138694.4(PKHD1):c.11786-30C>T	noncoding	Benign
6	51627035	G	C	G51627035C	PKHD1	NM_138694.4(PKHD1):c.11747C>G:p.Ser3916Ter	coding	Pathogenic/Likely_pathogenic
6	51627044	C	T	C51627044T	PKHD1	NM_138694.4(PKHD1):c.11738G>A:p.Arg3913His	coding	Benign/Likely_benign
6	51627068	A	T	A51627068T	PKHD1	NM_138694.4(PKHD1):c.11714T>A:p.Ile3905Asn	coding	Benign
6	51627086	T	C	T51627086C	PKHD1	NM_138694.4(PKHD1):c.11696A>G:p.Gln3899Arg	coding	Benign
6	51632618	C	T	C51632618T	PKHD1	NM_138694.4(PKHD1):c.11612G>A:p.Trp3871Ter	coding	Pathogenic
6	51632705	C	A	C51632705A	PKHD1	NM_138694.4(PKHD1):c.11525G>T:p.Arg3842Leu	coding	Benign
6	51632721	C	T	C51632721T	PKHD1	NM_138694.4(PKHD1):c.11509G>A:p.Val3837Ile	coding	Benign
6	51632744	T	C	T51632744C	PKHD1	NM_138694.4(PKHD1):c.11507-21A>G	noncoding	Benign
6	51638880	C	T	C51638880T	PKHD1	NM_138694.4(PKHD1):c.11475G>A:p.Trp3825Ter	coding	Pathogenic
6	51638957	C	T	C51638957T	PKHD1	NM_138694.4(PKHD1):c.11399-1G>A	coding	Pathogenic
6	51648089	A	G	A51648089G	PKHD1	NM_138694.4(PKHD1):c.11340T>C:p.Pro3780=	coding	Benign
6	51648115	G	A	G51648115A	PKHD1	NM_138694.4(PKHD1):c.11314C>T:p.Arg3772Ter	coding	Pathogenic/Likely_pathogenic
6	51649172	A	C	A51649172C	PKHD1	NM_138694.4(PKHD1):c.11223T>G:p.Tyr3741Ter	coding	Pathogenic
6	51658941	T	C	T51658941C	PKHD1	NM_138694.4(PKHD1):c.11174+11A>G	noncoding	Benign
6	51659052	G	A	G51659052A	PKHD1	NM_138694.4(PKHD1):c.11074C>T:p.Arg3692Ter	coding	Pathogenic/Likely_pathogenic
6	51659220	G	A	G51659220A	PKHD1	NM_138694.4(PKHD1):c.10906C>T:p.Gln3636Ter	coding	Pathogenic
6	51659361	G	A	G51659361A	PKHD1	NM_138694.4(PKHD1):c.10765C>T:p.Gln3589Ter	coding	Pathogenic
6	51659389	T	C	T51659389C	PKHD1	NM_138694.4(PKHD1):c.10737A>G:p.Val3579=	coding	Benign
6	51659541	C	G	C51659541G	PKHD1	NM_138694.4(PKHD1):c.10585G>C:p.Glu3529Gln	coding	Benign/Likely_benign
6	51659605	G	A	G51659605A	PKHD1	NM_138694.4(PKHD1):c.10521C>T:p.His3507=	coding	Benign
6	51659611	G	T	G51659611T	PKHD1	NM_138694.4(PKHD1):c.10515C>A:p.Ser3505Arg	coding	Benign/Likely_benign
6	51659682	G	A	G51659682A	PKHD1	NM_138694.4(PKHD1):c.10444C>T:p.Arg3482Cys	coding	Pathogenic/Likely_pathogenic
6	51659714	A	C	A51659714C	PKHD1	NM_138694.4(PKHD1):c.10412T>G:p.Val3471Gly	coding	Pathogenic
6	51659776	G	T	G51659776T	PKHD1	NM_138694.4(PKHD1):c.10350C>A:p.Cys3450Ter	coding	Pathogenic/Likely_pathogenic
6	51659907	G	A	G51659907A	PKHD1	NM_138694.4(PKHD1):c.10219C>T:p.Gln3407Ter	coding	Pathogenic
6	51659952	G	A	G51659952A	PKHD1	NM_138694.4(PKHD1):c.10174C>T:p.Gln3392Ter	coding	Pathogenic
6	51744510	A	C	A51744510C	PKHD1	NM_138694.4(PKHD1):c.10031T>G:p.Leu3344Ter	coding	Pathogenic/Likely_pathogenic
6	51746672	T	C	T51746672C	PKHD1	NM_138694.4(PKHD1):c.9998+49A>G	noncoding	Benign
6	51746818	C	A	C51746818A	PKHD1	NM_138694.4(PKHD1):c.9901G>T:p.Glu3301Ter	coding	Pathogenic/Likely_pathogenic
6	51747777	A	C	A51747777C	PKHD1	NM_138694.4(PKHD1):c.9829+10T>G	noncoding	Benign/Likely_benign
6	51747897	C	T	C51747897T	PKHD1	NM_138694.4(PKHD1):c.9719G>A:p.Arg3240Gln	coding	Pathogenic
6	51747898	G	A	G51747898A	PKHD1	NM_138694.4(PKHD1):c.9718C>T:p.Arg3240Ter	coding	Pathogenic/Likely_pathogenic
6	51747970	G	A	G51747970A	PKHD1	NM_138694.4(PKHD1):c.9646C>T:p.Gln3216Ter	coding	Pathogenic
6	51748039	C	T	C51748039T	PKHD1	NM_138694.4(PKHD1):c.9577G>A:p.Val3193Ile	coding	Benign/Likely_benign
6	51748124	G	A	G51748124A	PKHD1	NM_138694.4(PKHD1):c.9492C>T:p.Ser3164=	coding	Benign/Likely_benign
6	51748246	G	A	G51748246A	PKHD1	NM_138694.4(PKHD1):c.9370C>T:p.His3124Tyr	coding	Pathogenic/Likely_pathogenic
6	51748297	G	A	G51748297A	PKHD1	NM_138694.4(PKHD1):c.9319C>T:p.Arg3107Ter	coding	Pathogenic/Likely_pathogenic
6	51748379	C	T	C51748379T	PKHD1	NM_138694.4(PKHD1):c.9237G>A:p.Ala3079=	coding	Benign
6	51748563	G	A	G51748563A	PKHD1	NM_138694.4(PKHD1):c.9053C>T:p.Ser3018Phe	coding	Pathogenic
6	51748613	G	C	G51748613C	PKHD1	NM_138694.4(PKHD1):c.9003C>G:p.Tyr3001Ter	coding	Pathogenic
6	51753216	G	A	G51753216A	PKHD1	NM_138694.4(PKHD1):c.8935C>T:p.Arg2979Ter	coding	Pathogenic/Likely_pathogenic
6	51753281	A	G	A51753281G	PKHD1	NM_138694.4(PKHD1):c.8870T>C:p.Ile2957Thr	coding	Pathogenic
6	51753327	G	A	G51753327A	PKHD1	NM_138694.4(PKHD1):c.8824C>T:p.Arg2942Ter	coding	Pathogenic/Likely_pathogenic
6	51753355	T	A	T51753355A	PKHD1	NM_138694.4(PKHD1):c.8798-2A>T	noncoding	Pathogenic
6	51753372	T	G	T51753372G	PKHD1	NM_138694.4(PKHD1):c.8798-19A>C	noncoding	Benign
6	51754908	G	C	G51754908C	PKHD1	NM_138694.4(PKHD1):c.8673C>G:p.Arg2891=	coding	Benign/Likely_benign
6	51754962	T	C	T51754962C	PKHD1	NM_138694.4(PKHD1):c.8643-24A>G	noncoding	Benign
6	51772701	C	T	C51772701T	PKHD1	NM_138694.4(PKHD1):c.8642+1G>A	noncoding	Pathogenic
6	51772738	G	T	G51772738T	PKHD1	NM_138694.4(PKHD1):c.8606C>A:p.Thr2869Lys	coding	Benign/Likely_benign
6	51772791	T	C	T51772791C	PKHD1	NM_138694.4(PKHD1):c.8555-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	51772791	T	G	T51772791G	PKHD1	NM_138694.4(PKHD1):c.8555-2A>C	noncoding	Pathogenic/Likely_pathogenic
6	51775844	G	A	G51775844A	PKHD1	NM_138694.4(PKHD1):c.8518C>T:p.Arg2840Cys	coding	Pathogenic/Likely_pathogenic
6	51775953	C	G	C51775953G	PKHD1	NM_138694.4(PKHD1):c.8441-32G>C	noncoding	Benign
6	51791374	C	T	C51791374T	PKHD1	NM_138694.4(PKHD1):c.8303-1G>A	coding	Pathogenic
6	51830843	T	C	T51830843C	PKHD1	NM_138694.4(PKHD1):c.8302+18A>G	noncoding	Benign
6	51830849	A	T	A51830849T	PKHD1	NM_138694.4(PKHD1):c.8302+12T>A	noncoding	Benign
6	51830991	T	A	T51830991A	PKHD1	NM_138694.4(PKHD1):c.8174-2A>T	noncoding	Pathogenic
6	51831007	A	T	A51831007T	PKHD1	NM_138694.4(PKHD1):c.8174-18T>A	noncoding	Benign
6	51831038	C	G	C51831038G	PKHD1	NM_138694.4(PKHD1):c.8174-49G>C	noncoding	Benign
6	51836367	C	T	C51836367T	PKHD1	NM_138694.4(PKHD1):c.8173+37G>A	noncoding	Benign
6	51836455	G	A	G51836455A	PKHD1	NM_138694.4(PKHD1):c.8122C>T:p.Gln2708Ter	coding	Pathogenic
6	51836485	C	G	C51836485G	PKHD1	NM_138694.4(PKHD1):c.8108-16G>C	noncoding	Benign
6	51847871	G	A	G51847871A	PKHD1	NM_138694.4(PKHD1):c.8011C>T:p.Arg2671Ter	coding	Pathogenic
6	51847905	C	T	C51847905T	PKHD1	NM_138694.4(PKHD1):c.7977G>A:p.Pro2659=	coding	Benign/Likely_benign
6	51847909	A	T	A51847909T	PKHD1	NM_138694.4(PKHD1):c.7973T>A:p.Leu2658Ter	coding	Pathogenic
6	51847940	C	T	C51847940T	PKHD1	NM_138694.4(PKHD1):c.7942G>A:p.Gly2648Ser	coding	Benign
6	51847961	T	C	T51847961C	PKHD1	NM_138694.4(PKHD1):c.7921A>G:p.Thr2641Ala	coding	Benign/Likely_benign
6	51847966	G	T	G51847966T	PKHD1	NM_138694.4(PKHD1):c.7916C>A:p.Ser2639Ter	coding	Pathogenic/Likely_pathogenic
6	51855931	A	G	A51855931G	PKHD1	NM_138694.4(PKHD1):c.7873T>C:p.Leu2625=	coding	Benign/Likely_benign
6	51856040	T	C	T51856040C	PKHD1	NM_138694.4(PKHD1):c.7764A>G:p.Leu2588=	coding	Benign
6	51856074	A	G	A51856074G	PKHD1	NM_138694.4(PKHD1):c.7734-4T>C	noncoding	Benign
6	51867830	G	A	G51867830A	PKHD1	NM_138694.4(PKHD1):c.7733+33C>T	noncoding	Benign
6	51868009	C	T	C51868009T	PKHD1	NM_138694.4(PKHD1):c.7587G>A:p.Gly2529=	coding	Benign
6	51870463	G	T	G51870463T	PKHD1	NM_138694.4(PKHD1):c.7486+41C>A	noncoding	Benign
6	51870508	T	A	T51870508A	PKHD1	NM_138694.4(PKHD1):c.7482A>T:p.Gly2494=	coding	Benign/Likely_benign
6	51870640	C	G	C51870640G	PKHD1	NM_138694.4(PKHD1):c.7351-1G>C	coding	Pathogenic
6	51883145	T	A	T51883145A	PKHD1	NM_138694.4(PKHD1):c.7298A>T:p.Asp2433Val	coding	Benign
6	51885888	C	T	C51885888T	PKHD1	NM_138694.4(PKHD1):c.7194G>A:p.Trp2398Ter	coding	Pathogenic
6	51885905	G	A	G51885905A	PKHD1	NM_138694.4(PKHD1):c.7177C>T:p.Gln2393Ter	coding	Pathogenic
6	51885979	A	T	A51885979T	PKHD1	NM_138694.4(PKHD1):c.7110-7T>A	noncoding	Benign/Likely_benign
6	51887151	A	T	A51887151T	PKHD1	NM_138694.4(PKHD1):c.7091T>A:p.Ile2364Asn	coding	Benign/Likely_benign
6	51903601	A	T	A51903601T	PKHD1	NM_138694.4(PKHD1):c.6992T>A:p.Ile2331Lys	coding	Pathogenic/Likely_pathogenic
6	51903686	T	A	T51903686A	PKHD1	NM_138694.4(PKHD1):c.6907A>T:p.Ile2303Phe	coding	Pathogenic
6	51904011	C	T	C51904011T	PKHD1	NM_138694.4(PKHD1):c.6840G>A:p.Trp2280Ter	coding	Pathogenic
6	51904044	T	A	T51904044A	PKHD1	NM_138694.4(PKHD1):c.6809-2A>T	noncoding	Pathogenic/Likely_pathogenic
6	51909397	G	A	G51909397A	PKHD1	NM_138694.4(PKHD1):c.6568C>T:p.Gln2190Ter	coding	Pathogenic
6	51909466	G	A	G51909466A	PKHD1	NM_138694.4(PKHD1):c.6499C>T:p.Gln2167Ter	coding	Pathogenic
6	51911906	A	C	A51911906C	PKHD1	NM_138694.4(PKHD1):c.6383T>G:p.Leu2128Ter	coding	Pathogenic
6	51912487	T	G	T51912487G	PKHD1	NM_138694.4(PKHD1):c.6211A>C:p.Asn2071His	coding	Benign/Likely_benign
6	51912514	G	A	G51912514A	PKHD1	NM_138694.4(PKHD1):c.6184C>T:p.Leu2062=	coding	Benign/Likely_benign
6	51934319	C	T	C51934319T	PKHD1	NM_138694.4(PKHD1):c.5912G>A:p.Gly1971Asp	coding	Pathogenic/Likely_pathogenic
6	51934368	T	C	T51934368C	PKHD1	NM_138694.4(PKHD1):c.5909-46A>G	noncoding	Benign
6	51959882	G	A	G51959882A	PKHD1	NM_138694.4(PKHD1):c.5896C>T:p.Leu1966=	coding	Benign
6	51959948	C	T	C51959948T	PKHD1	NM_138694.4(PKHD1):c.5830G>A:p.Asp1944Asn	coding	Pathogenic
6	51959953	T	C	T51959953C	PKHD1	NM_138694.4(PKHD1):c.5825A>G:p.Asp1942Gly	coding	Pathogenic/Likely_pathogenic
6	51959994	C	T	C51959994T	PKHD1	NM_138694.4(PKHD1):c.5784G>A:p.Trp1928Ter	coding	Pathogenic
6	51960011	G	A	G51960011A	PKHD1	NM_138694.4(PKHD1):c.5767C>T:p.Gln1923Ter	coding	Pathogenic
6	52010306	T	C	T52010306C	PKHD1	NM_138694.4(PKHD1):c.5751+3A>G	noncoding	Pathogenic/Likely_pathogenic
6	52010335	G	A	G52010335A	PKHD1	NM_138694.4(PKHD1):c.5725C>T:p.Arg1909Trp	coding	Benign/Likely_benign
6	52010452	A	C	A52010452C	PKHD1	NM_138694.4(PKHD1):c.5608T>G:p.Leu1870Val	coding	Benign
6	52017409	C	T	C52017409T	PKHD1	NM_138694.4(PKHD1):c.5600+1G>A	noncoding	Pathogenic
6	52017525	G	A	G52017525A	PKHD1	NM_138694.4(PKHD1):c.5485C>T:p.Gln1829Ter	coding	Pathogenic/Likely_pathogenic
6	52017562	A	T	A52017562T	PKHD1	NM_138694.4(PKHD1):c.5448T>A:p.Tyr1816Ter	coding	Pathogenic/Likely_pathogenic
6	52022823	G	A	G52022823A	PKHD1	NM_138694.4(PKHD1):c.5358C>T:p.Ser1786=	coding	Benign/Likely_benign
6	52022858	G	A	G52022858A	PKHD1	NM_138694.4(PKHD1):c.5323C>T:p.Arg1775Ter	coding	Pathogenic
6	52024560	T	C	T52024560C	PKHD1	NM_138694.4(PKHD1):c.5236+14A>G	noncoding	Benign
6	52024573	C	T	C52024573T	PKHD1	NM_138694.4(PKHD1):c.5236+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	52024611	G	T	G52024611T	PKHD1	NM_138694.4(PKHD1):c.5199C>A:p.Thr1733=	coding	Benign
6	52024710	G	A	G52024710A	PKHD1	NM_138694.4(PKHD1):c.5100C>T:p.Thr1700=	coding	Benign/Likely_benign
6	52024717	T	C	T52024717C	PKHD1	NM_138694.4(PKHD1):c.5093A>G:p.Asn1698Ser	coding	Benign
6	52024741	G	T	G52024741T	PKHD1	NM_138694.4(PKHD1):c.5069C>A:p.Ser1690Ter	coding	Pathogenic
6	52024750	A	G	A52024750G	PKHD1	NM_138694.4(PKHD1):c.5060T>C:p.Ile1687Thr	coding	Pathogenic/Likely_pathogenic
6	52024819	G	A	G52024819A	PKHD1	NM_138694.4(PKHD1):c.4991C>T:p.Ser1664Phe	coding	Pathogenic
6	52024878	C	T	C52024878T	PKHD1	NM_138694.4(PKHD1):c.4932G>A:p.Trp1644Ter	coding	Pathogenic
6	52024890	T	C	T52024890C	PKHD1	NM_138694.4(PKHD1):c.4920A>G:p.Val1640=	coding	Benign/Likely_benign
6	52024928	G	C	G52024928C	PKHD1	NM_138694.4(PKHD1):c.4882C>G:p.Pro1628Ala	coding	Pathogenic/Likely_pathogenic
6	52024966	G	A	G52024966A	PKHD1	NM_138694.4(PKHD1):c.4844C>T:p.Thr1615Met	coding	Benign/Likely_benign
6	52025267	C	A	C52025267A	PKHD1	NM_138694.4(PKHD1):c.4543G>T:p.Glu1515Ter	coding	Pathogenic
6	52025393	G	A	G52025393A	PKHD1	NM_138694.4(PKHD1):c.4417C>T:p.Gln1473Ter	coding	Pathogenic
6	52025480	G	A	G52025480A	PKHD1	NM_138694.4(PKHD1):c.4330C>T:p.Gln1444Ter	coding	Pathogenic/Likely_pathogenic
6	52025775	G	T	G52025775T	PKHD1	NM_138694.4(PKHD1):c.4035C>A:p.Gly1345=	coding	Benign/Likely_benign
6	52025826	G	A	G52025826A	PKHD1	NM_138694.4(PKHD1):c.3984C>T:p.Val1328=	coding	Benign/Likely_benign
6	52025934	G	A	G52025934A	PKHD1	NM_138694.4(PKHD1):c.3876C>T:p.Thr1292=	coding	Benign
6	52026025	G	A	G52026025A	PKHD1	NM_138694.4(PKHD1):c.3785C>T:p.Ala1262Val	coding	Benign
6	52026054	C	G	C52026054G	PKHD1	NM_138694.4(PKHD1):c.3756G>C:p.Leu1252=	coding	Benign
6	52026124	C	G	C52026124G	PKHD1	NM_138694.4(PKHD1):c.3686G>C:p.Trp1229Ser	coding	Benign/Likely_benign
6	52026213	T	C	T52026213C	PKHD1	NM_138694.4(PKHD1):c.3629-32A>G	noncoding	Benign
6	52028243	C	T	C52028243T	PKHD1	NM_138694.4(PKHD1):c.3473G>A:p.Trp1158Ter	coding	Pathogenic
6	52028253	G	A	G52028253A	PKHD1	NM_138694.4(PKHD1):c.3463C>T:p.Gln1155Ter	coding	Pathogenic
6	52028349	C	T	C52028349T	PKHD1	NM_138694.4(PKHD1):c.3367G>A:p.Gly1123Ser	coding	Pathogenic/Likely_pathogenic
6	52033030	C	T	C52033030T	PKHD1	NM_138694.4(PKHD1):c.3364G>A:p.Gly1122Ser	coding	Pathogenic
6	52035701	G	A	G52035701A	PKHD1	NM_138694.4(PKHD1):c.3118C>T:p.Arg1040Ter	coding	Pathogenic
6	52042866	C	T	C52042866T	PKHD1	NM_138694.4(PKHD1):c.3090G>A:p.Ala1030=	coding	Benign
6	52042932	G	A	G52042932A	PKHD1	NM_138694.4(PKHD1):c.3024C>T:p.Ala1008=	coding	Benign
6	52043006	G	A	G52043006A	PKHD1	NM_138694.4(PKHD1):c.2950C>T:p.Gln984Ter	coding	Pathogenic
6	52043022	C	T	C52043022T	PKHD1	NM_138694.4(PKHD1):c.2934G>A:p.Gln978=	coding	Benign/Likely_benign
6	52043102	C	T	C52043102T	PKHD1	NM_138694.4(PKHD1):c.2854G>A:p.Gly952Arg	coding	Pathogenic/Likely_pathogenic
6	52043635	C	T	C52043635T	PKHD1	NM_138694.4(PKHD1):c.2811G>A:p.Trp937Ter	coding	Pathogenic
6	52043636	C	T	C52043636T	PKHD1	NM_138694.4(PKHD1):c.2810G>A:p.Trp937Ter	coding	Pathogenic/Likely_pathogenic
6	52043721	G	A	G52043721A	PKHD1	NM_138694.4(PKHD1):c.2725C>T:p.Arg909Ter	coding	Pathogenic/Likely_pathogenic
6	52044968	G	A	G52044968A	PKHD1	NM_138694.4(PKHD1):c.2713C>T:p.Gln905Ter	coding	Pathogenic
6	52046033	G	A	G52046033A	PKHD1	NM_138694.4(PKHD1):c.2563C>T:p.Gln855Ter	coding	Pathogenic
6	52046053	C	T	C52046053T	PKHD1	NM_138694.4(PKHD1):c.2543G>A:p.Trp848Ter	coding	Pathogenic
6	52046089	A	G	A52046089G	PKHD1	NM_138694.4(PKHD1):c.2507T>C:p.Val836Ala	coding	Pathogenic/Likely_pathogenic
6	52046107	T	C	T52046107C	PKHD1	NM_138694.4(PKHD1):c.2489A>G:p.Asn830Ser	coding	Benign
6	52046144	G	A	G52046144A	PKHD1	NM_138694.4(PKHD1):c.2452C>T:p.Gln818Ter	coding	Pathogenic
6	52048442	G	A	G52048442A	PKHD1	NM_138694.4(PKHD1):c.2407+50C>T	noncoding	Benign
6	52048450	A	C	A52048450C	PKHD1	NM_138694.4(PKHD1):c.2407+42T>G	noncoding	Benign
6	52048491	C	T	C52048491T	PKHD1	NM_138694.4(PKHD1):c.2407+1G>A	noncoding	Pathogenic
6	52048551	C	T	C52048551T	PKHD1	NM_138694.4(PKHD1):c.2348G>A:p.Arg783Gln	coding	Benign
6	52048558	G	A	G52048558A	PKHD1	NM_138694.4(PKHD1):c.2341C>T:p.Arg781Ter	coding	Pathogenic
6	52050157	C	T	C52050157T	PKHD1	NM_138694.4(PKHD1):c.2279G>A:p.Arg760His	coding	Pathogenic/Likely_pathogenic
6	52050158	G	A	G52050158A	PKHD1	NM_138694.4(PKHD1):c.2278C>T:p.Arg760Cys	coding	Benign
6	52050172	G	A	G52050172A	PKHD1	NM_138694.4(PKHD1):c.2264C>T:p.Pro755Leu	coding	Pathogenic/Likely_pathogenic
6	52050179	C	A	C52050179A	PKHD1	NM_138694.4(PKHD1):c.2257G>T:p.Glu753Ter	coding	Pathogenic
6	52053075	C	T	C52053075T	PKHD1	NM_138694.4(PKHD1):c.2140+1G>A	noncoding	Pathogenic
6	52053170	T	G	T52053170G	PKHD1	NM_138694.4(PKHD1):c.2046A>C:p.Pro682=	coding	Benign
6	52053189	G	C	G52053189C	PKHD1	NM_138694.4(PKHD1):c.2027C>G:p.Pro676Arg	coding	Benign/Likely_benign
6	52054052	C	T	C52054052T	PKHD1	NM_138694.4(PKHD1):c.1950G>A:p.Arg650=	coding	Benign/Likely_benign
6	52054073	G	T	G52054073T	PKHD1	NM_138694.4(PKHD1):c.1929C>A:p.Thr643=	coding	Benign
6	52054122	A	T	A52054122T	PKHD1	NM_138694.4(PKHD1):c.1880T>A:p.Met627Lys	coding	Pathogenic
6	52054125	T	C	T52054125C	PKHD1	NM_138694.4(PKHD1):c.1877A>G:p.Lys626Arg	coding	Benign/Likely_benign
6	52055586	C	T	C52055586T	PKHD1	NM_138694.4(PKHD1):c.1836+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	52055593	A	T	A52055593T	PKHD1	NM_138694.4(PKHD1):c.1830T>A:p.Tyr610Ter	coding	Pathogenic/Likely_pathogenic
6	52055687	G	A	G52055687A	PKHD1	NM_138694.4(PKHD1):c.1736C>T:p.Thr579Met	coding	Benign/Likely_benign
6	52055730	C	T	C52055730T	PKHD1	NM_138694.4(PKHD1):c.1694-1G>A	coding	Pathogenic
6	52055761	G	C	G52055761C	PKHD1	NM_138694.4(PKHD1):c.1694-32C>G	noncoding	Benign
6	52056696	A	C	A52056696C	PKHD1	NM_138694.4(PKHD1):c.1693+2T>G	noncoding	Pathogenic
6	52056701	G	A	G52056701A	PKHD1	NM_138694.4(PKHD1):c.1690C>T:p.Arg564Ter	coding	Pathogenic
6	52056716	G	A	G52056716A	PKHD1	NM_138694.4(PKHD1):c.1675C>T:p.Arg559Trp	coding	Benign
6	52056816	A	G	A52056816G	PKHD1	NM_138694.4(PKHD1):c.1603-28T>C	noncoding	Benign
6	52056889	C	T	C52056889T	PKHD1	NM_138694.4(PKHD1):c.1602+1G>A	noncoding	Pathogenic
6	52056905	A	G	A52056905G	PKHD1	NM_138694.4(PKHD1):c.1587T>C:p.Asn529=	coding	Benign
6	52058325	G	A	G52058325A	PKHD1	NM_138694.4(PKHD1):c.1510C>T:p.Gln504Ter	coding	Pathogenic
6	52058349	G	A	G52058349A	PKHD1	NM_138694.4(PKHD1):c.1486C>T:p.Arg496Ter	coding	Pathogenic
6	52058355	G	A	G52058355A	PKHD1	NM_138694.4(PKHD1):c.1480C>T:p.Arg494Ter	coding	Pathogenic/Likely_pathogenic
6	52058377	G	T	G52058377T	PKHD1	NM_138694.4(PKHD1):c.1458C>A:p.Tyr486Ter	coding	Pathogenic/Likely_pathogenic
6	52058606	G	A	G52058606A	PKHD1	NM_138694.4(PKHD1):c.1234-5C>T	noncoding	Benign/Likely_benign
6	52058611	A	T	A52058611T	PKHD1	NM_138694.4(PKHD1):c.1234-10T>A	noncoding	Benign
6	52058640	G	C	G52058640C	PKHD1	NM_138694.4(PKHD1):c.1234-39C>G	noncoding	Benign
6	52059976	A	G	A52059976G	PKHD1	NM_138694.4(PKHD1):c.1185T>C:p.Asp395=	coding	Benign
6	52059981	C	T	C52059981T	PKHD1	NM_138694.4(PKHD1):c.1180G>A:p.Ala394Thr	coding	Pathogenic
6	52060038	G	A	G52060038A	PKHD1	NM_138694.4(PKHD1):c.1123C>T:p.Arg375Trp	coding	Pathogenic/Likely_pathogenic
6	52062549	C	T	C52062549T	PKHD1	NM_138694.4(PKHD1):c.1088G>A:p.Gly363Glu	coding	Benign
6	52062655	G	A	G52062655A	PKHD1	NM_138694.4(PKHD1):c.982C>T:p.Arg328Ter	coding	Pathogenic/Likely_pathogenic
6	52065033	T	A	T52065033A	PKHD1	NM_138694.4(PKHD1):c.898A>T:p.Arg300Ter	coding	Pathogenic/Likely_pathogenic
6	52065043	T	A	T52065043A	PKHD1	NM_138694.4(PKHD1):c.888A>T:p.Pro296=	coding	Benign/Likely_benign
6	52065051	C	T	C52065051T	PKHD1	NM_138694.4(PKHD1):c.881-1G>A	coding	Pathogenic/Likely_pathogenic
6	52065975	C	T	C52065975T	PKHD1	NM_138694.4(PKHD1):c.880+1G>A	noncoding	Pathogenic
6	52066070	T	C	T52066070C	PKHD1	NM_138694.4(PKHD1):c.786A>G:p.Leu262=	coding	Benign
6	52069470	G	C	G52069470C	PKHD1	NM_138694.4(PKHD1):c.765C>G:p.Tyr255Ter	coding	Pathogenic
6	52069502	G	A	G52069502A	PKHD1	NM_138694.4(PKHD1):c.733C>T:p.Leu245=	coding	Benign
6	52069504	C	T	C52069504T	PKHD1	NM_138694.4(PKHD1):c.731G>A:p.Trp244Ter	coding	Pathogenic
6	52070405	C	T	C52070405T	PKHD1	NM_138694.4(PKHD1):c.707+1G>A	noncoding	Pathogenic
6	52071009	T	C	T52071009C	PKHD1	NM_138694.4(PKHD1):c.664A>G:p.Ile222Val	coding	Pathogenic
6	52072114	C	T	C52072114T	PKHD1	NM_138694.4(PKHD1):c.602+1G>A	noncoding	Pathogenic
6	52073444	A	G	A52073444G	PKHD1	NM_138694.4(PKHD1):c.527+19T>C	noncoding	Benign
6	52073516	C	T	C52073516T	PKHD1	NM_138694.4(PKHD1):c.474G>A:p.Trp158Ter	coding	Pathogenic
6	52076334	C	G	C52076334G	PKHD1	NM_138694.4(PKHD1):c.391-1G>C	coding	Pathogenic
6	52076376	A	T	A52076376T	PKHD1	NM_138694.4(PKHD1):c.391-43T>A	noncoding	Benign
6	52079899	C	T	C52079899T	PKHD1	NM_138694.4(PKHD1):c.390+1G>A	noncoding	Pathogenic
6	52079920	G	A	G52079920A	PKHD1	NM_138694.4(PKHD1):c.370C>T:p.Arg124Ter	coding	Pathogenic
6	52082391	C	T	C52082391T	PKHD1	NM_138694.4(PKHD1):c.281+1G>A	noncoding	Pathogenic
6	52082439	G	A	G52082439A	PKHD1	NM_138694.4(PKHD1):c.234C>T:p.Asp78=	coding	Benign
6	52082459	G	A	G52082459A	PKHD1	NM_138694.4(PKHD1):c.214C>T:p.Leu72=	coding	Benign
6	52083201	G	A	G52083201A	PKHD1	NM_138694.4(PKHD1):c.107C>T:p.Thr36Met	coding	Pathogenic/Likely_pathogenic
6	52083223	C	A	C52083223A	PKHD1	NM_138694.4(PKHD1):c.85G>T:p.Glu29Ter	coding	Pathogenic/Likely_pathogenic
6	52084923	C	T	C52084923T	PKHD1	NM_138694.4(PKHD1):c.11G>A:p.Trp4Ter	coding	Pathogenic/Likely_pathogenic
6	52084933	T	C	T52084933C	PKHD1	NM_138694.4(PKHD1):c.1A>G:p.Met1Val	coding	Pathogenic
6	52189226	G	A	G52189226A	IL17A	NM_002190.3(IL17A):c.402G>A:p.Arg134=	coding	Benign
6	52236688	A	C	A52236688C	IL17F	NM_052872.4(IL17F):c.*243T>G	noncoding	Benign
6	52236808	G	A	G52236808A	IL17F	NM_052872.4(IL17F):c.*123C>T	noncoding	Benign
6	52236941	T	C	T52236941C	IL17F	NM_052872.4(IL17F):c.482A>G:p.His161Arg	coding	Benign
6	52236960	C	T	C52236960T	IL17F	NM_052872.4(IL17F):c.463G>A:p.Val155Ile	coding	Benign
6	52237046	T	C	T52237046C	IL17F	NM_052872.4(IL17F):c.377A>G:p.Glu126Gly	coding	Benign
6	52237105	G	A	G52237105A	IL17F	NM_052872.4(IL17F):c.318C>T:p.Gly106=	coding	Benign
6	52237139	G	A	G52237139A	IL17F	NM_052872.4(IL17F):c.284C>T:p.Ser95Leu	coding	Pathogenic
6	52238762	G	A	G52238762A	IL17F	NM_052872.4(IL17F):c.222C>T:p.Ile74=	coding	Benign
6	52244477	A	G	A52244477G	IL17F	NM_052872.4(IL17F):c.-48T>C	noncoding	Benign
6	52278860	A	G	A52278860G	MCM3	NM_002388.6(MCM3):c.771-10T>C	noncoding	Benign
6	52420435	T	C	T52420435C	EFHC1	NM_018100.4(EFHC1):c.25T>C:p.Leu9=	coding	Benign/Likely_benign
6	52424092	A	G	A52424092G	EFHC1	NM_018100.4(EFHC1):c.210A>G:p.Pro70=	coding	Benign
6	52438493	C	G	C52438493G	EFHC1	NM_018100.4(EFHC1):c.475C>G:p.Arg159Gly	coding	Benign/Likely_benign
6	52438493	C	T	C52438493T	EFHC1	NM_018100.4(EFHC1):c.475C>T:p.Arg159Trp	coding	Benign/Likely_benign
6	52438563	G	A	G52438563A	EFHC1	NM_018100.4(EFHC1):c.545G>A:p.Arg182His	coding	Benign
6	52438601	A	G	A52438601G	EFHC1	NM_018100.4(EFHC1):c.573+10A>G	noncoding	Benign/Likely_benign
6	52452742	G	A	G52452742A	EFHC1	NM_018100.4(EFHC1):c.628G>A:p.Asp210Asn	coding	Pathogenic
6	52454197	C	T	C52454197T	EFHC1	NM_018100.4(EFHC1):c.826C>T:p.Arg276Ter	coding	Pathogenic
6	52454252	G	A	G52454252A	EFHC1	NM_018100.4(EFHC1):c.881G>A:p.Arg294His	coding	Benign
6	52465047	G	A	G52465047A	EFHC1	NM_018100.4(EFHC1):c.1069G>A:p.Glu357Lys	coding	Benign/Likely_benign
6	52469350	C	T	C52469350T	EFHC1	NM_018100.4(EFHC1):c.1155C>T:p.Asn385=	coding	Benign/Likely_benign
6	52469419	C	T	C52469419T	EFHC1	NM_018100.4(EFHC1):c.1224C>T:p.Asp408=	coding	Benign
6	52479096	C	T	C52479096T	EFHC1	NM_018100.4(EFHC1):c.1338C>T:p.Thr446=	coding	Benign/Likely_benign
6	52479101	T	C	T52479101C	EFHC1	NM_018100.4(EFHC1):c.1343T>C:p.Met448Thr	coding	Benign/Likely_benign
6	52490319	A	G	A52490319G	EFHC1	NM_018100.4(EFHC1):c.1820A>G:p.Asn607Ser	coding	Benign
6	52490320	C	T	C52490320T	EFHC1	NM_018100.4(EFHC1):c.1821C>T:p.Asn607=	coding	Benign
6	52492273	A	C	A52492273C	EFHC1	NM_018100.4(EFHC1):c.1855A>C:p.Ile619Leu	coding	Benign/Likely_benign
6	52492311	C	T	C52492311T	EFHC1	NM_018100.4(EFHC1):c.1893C>T:p.Tyr631=	coding	Benign
6	52492462	C	A	C52492462A	EFHC1	NM_018100.4(EFHC1):c.*121C>A	noncoding	Benign
6	52799253	G	A	G52799253A	GSTA1	NM_145740.5(GSTA1):c.15C>T:p.Pro5=	coding	Benign
6	52896853	C	T	C52896853T	GSTA3	NM_000847.5(GSTA3):c.622G>A:p.Ala208Thr	coding	Benign
6	52896870	C	G	C52896870G	GSTA3	NM_000847.5(GSTA3):c.605G>C:p.Ser202Thr	coding	Benign
6	52902401	T	C	T52902401C	GSTA3	NM_000847.5(GSTA3):c.217A>G:p.Asn73Asp	coding	Benign
6	52984544	A	G	A52984544G	GSTA4	NM_001512.4(GSTA4):c.334T>C:p.Leu112=	coding	Benign
6	53009452	G	A	G53009452A	CILK1	NM_014920.5(CILK1):c.1608C>T:p.Ser536=	coding	Benign
6	53011813	G	C	G53011813C	CILK1	NM_014920.5(CILK1):c.1448C>G:p.Ser483Cys	coding	Benign/Likely_benign
6	53016099	C	T	C53016099T	CILK1	NM_014920.4(CILK1):c.815G>A:p.Arg272Gln	coding	Pathogenic
6	53016224	A	G	A53016224G	CILK1	NM_014920.5(CILK1):c.690T>C:p.Leu230=	coding	Benign
6	53016248	A	G	A53016248G	CILK1	NM_014920.5(CILK1):c.666T>C:p.Thr222=	coding	Benign/Likely_benign
6	53018438	C	T	C53018438T	CILK1	NM_016513.4(CILK1):c.555G>A:p.Ala185=	coding	Benign/Likely_benign
6	53018459	G	A	G53018459A	CILK1	NM_014920.4(CILK1):c.534C>T:p.Ser178=	coding	Benign
6	53031065	C	A	C53031065A	CILK1	NM_014920.4(CILK1):c.358G>T:p.Gly120Cys	coding	Pathogenic
6	53130893	C	T	C53130893T	GCM1	NM_003643.4(GCM1):c.480G>A:p.Lys160=	coding	Benign
6	53132070	T	A	T53132070A	GCM1	NM_003643.4(GCM1):c.378A>T:p.Arg126=	coding	Benign
6	53132097	G	A	G53132097A	GCM1	NM_003643.4(GCM1):c.351C>T:p.Asp117=	coding	Benign
6	53270660	C	A	C53270660A	ELOVL5	NM_021814.5(ELOVL5):c.689G>T:p.Gly230Val	coding	Pathogenic
6	53287885	G	A	G53287885A	ELOVL5	NM_021814.5(ELOVL5):c.246+3891C>T	coding	Benign
6	53291808	G	C	G53291808C	ELOVL5	NM_021814.5(ELOVL5):c.214C>G:p.Leu72Val	coding	Pathogenic
6	53498978	G	C	G53498978C	GCLC	NM_001498.4(GCLC):c.1703-11C>G	noncoding	Benign
6	53500265	G	A	G53500265A	GCLC	NM_001498.4(GCLC):c.1563C>T:p.Asp521=	coding	Benign
6	53500304	C	T	C53500304T	GCLC	NM_001498.4(GCLC):c.1524G>A:p.Thr508=	coding	Benign
6	53500356	G	A	G53500356A	GCLC	NM_001498.4(GCLC):c.1478-6C>T	noncoding	Benign
6	53507001	T	A	T53507001A	GCLC	NM_001498.4(GCLC):c.1109A>T:p.His370Leu	coding	Pathogenic
6	53507580	T	A	T53507580A	GCLC	NM_001498.4(GCLC):c.984A>T:p.Arg328=	coding	Benign
6	53516141	T	C	T53516141C	GCLC	NM_001498.4(GCLC):c.528A>G:p.Pro176=	coding	Benign
6	53545239	G	A	G53545239A	GCLC	NM_001498.4(GCLC):c.-594C>T	noncoding	Benign
6	53795303	G	T	G53795303T	LRRC1	NM_018214.5(LRRC1):c.47G>T:p.Ser16Ile	coding	Benign
6	53922787	T	G	T53922787G	LRRC1	NM_018214.5(LRRC1):c.1569T>G:p.Ser523=	coding	Benign
6	54160741	A	G	A54160741G	MLIP	NM_001281747.2(MLIP):c.2441A>G:p.His814Arg	coding	Benign
6	54160747	C	G	C54160747G	MLIP	NM_001281747.2(MLIP):c.2447C>G:p.Ser816Cys	coding	Benign
6	54308583	T	G	T54308583G	TINAG	NM_014464.4(TINAG):c.33T>G:p.Ser11=	coding	Benign
6	54870585	C	T	C54870585T	FAM83B	NM_001010872.3(FAM83B):c.339C>T:p.Pro113=	coding	Benign
6	54926424	C	T	C54926424T	FAM83B	NM_001010872.3(FAM83B):c.498C>T:p.Ile166=	coding	Benign
6	54941827	C	T	C54941827T	FAM83B	NM_001010872.3(FAM83B):c.2856C>T:p.Asn952=	coding	Benign
6	55277463	G	A	G55277463A	HCRTR2	NM_001526.4(HCRTR2):c.846G>A:p.Thr282=	coding	Benign
6	55282301	C	T	C55282301T	HCRTR2	NM_001526.4(HCRTR2):c.1182C>T:p.Leu394=	coding	Benign
6	55359077	A	G	A55359077G	GFRAL	NM_207410.2(GFRAL):c.891A>G:p.Thr297=	coding	Benign
6	55760493	G	A	G55760493A	BMP5	NM_021073.4(BMP5):c.1068C>T:p.His356=	coding	Benign
6	55819713	A	G	A55819713G	BMP5	NM_021073.4(BMP5):c.625T>C:p.Phe209Leu	coding	Benign
6	55874504	T	C	T55874504C	BMP5	NM_021073.4(BMP5):c.362A>G:p.Asn121Ser	coding	Benign
6	56059169	G	A	G56059169A	COL21A1	NM_030820.4(COL21A1):c.2682C>T:p.Pro894=	coding	Benign
6	56124072	G	C	G56124072C	COL21A1	NM_030820.4(COL21A1):c.1748C>G:p.Pro583Arg	coding	Benign
6	56463592	T	G	T56463592G	DST	NM_015548.5(DST):c.14991A>C:p.Pro4997=	coding	Benign
6	56463628	A	G	A56463628G	DST	NM_015548.5(DST):c.14955T>C:p.Thr4985=	coding	Benign
6	56463681	G	A	G56463681A	DST	NM_015548.5(DST):c.14902C>T:p.Arg4968Ter	coding	Pathogenic
6	56471122	A	G	A56471122G	DST	NM_015548.5(DST):c.14436T>C:p.Asp4812=	coding	Benign
6	56472098	T	C	T56472098C	DST	NM_015548.5(DST):c.14250A>G:p.Arg4750=	coding	Benign
6	56482158	C	T	C56482158T	DST	NM_015548.5(DST):c.13554G>A:p.Val4518=	coding	Benign
6	56487154	C	T	C56487154T	DST	NM_015548.5(DST):c.13128G>A:p.Leu4376=	coding	Benign
6	56487175	G	A	G56487175A	DST	NM_015548.5(DST):c.13107C>T:p.Asn4369=	coding	Benign
6	56489496	T	C	T56489496C	DST	NM_015548.5(DST):c.13002A>G:p.Gln4334=	coding	Benign
6	56492443	A	G	A56492443G	DST	NM_015548.5(DST):c.12682-10T>C	noncoding	Benign
6	56493038	G	A	G56493038A	DST	NM_015548.5(DST):c.12577C>T:p.Gln4193Ter	coding	Pathogenic
6	56494058	G	A	G56494058A	DST	NM_015548.5(DST):c.12477C>T:p.Asn4159=	coding	Benign
6	56501612	T	C	T56501612C	DST	NM_015548.5(DST):c.11779A>G:p.Thr3927Ala	coding	Benign
6	56506685	G	T	G56506685T	DST	NM_015548.5(DST):c.11475C>A:p.Val3825=	coding	Benign
6	56511262	G	A	G56511262A	DST	NM_015548.5(DST):c.10846C>T:p.Gln3616Ter	coding	Pathogenic
6	56515629	A	T	A56515629T	DST	NM_015548.5(DST):c.10528T>A:p.Cys3510Ser	coding	Benign
6	56526385	A	G	A56526385G	DST	NM_015548.5(DST):c.10236T>C:p.Asp3412=	coding	Benign
6	56526482	C	T	C56526482T	DST	NM_015548.5(DST):c.10139G>A:p.Trp3380Ter	coding	Pathogenic
6	56526577	T	C	T56526577C	DST	NM_015548.5(DST):c.10054-10A>G	noncoding	Benign
6	56529991	G	A	G56529991A	DST	NM_015548.5(DST):c.9382C>T:p.Gln3128Ter	coding	Pathogenic
6	56532334	T	C	T56532334C	DST	NM_015548.5(DST):c.9239+10A>G	noncoding	Benign
6	56532422	G	A	G56532422A	DST	NM_015548.5(DST):c.9161C>T:p.Ala3054Val	coding	Benign
6	56552217	C	T	C56552217T	DST	NM_015548.5(DST):c.8706G>A:p.Thr2902=	coding	Benign
6	56552484	C	T	C56552484T	DST	NM_015548.5(DST):c.8439G>A:p.Met2813Ile	coding	Benign
6	56552747	T	C	T56552747C	DST	NM_015548.5(DST):c.8176A>G:p.Thr2726Ala	coding	Benign
6	56552931	C	T	C56552931T	DST	NM_015548.5(DST):c.7992G>A:p.Arg2664=	coding	Benign
6	56553206	A	G	A56553206G	DST	NM_015548.5(DST):c.7717T>C:p.Leu2573=	coding	Benign
6	56553208	C	T	C56553208T	DST	NM_015548.5(DST):c.7715G>A:p.Cys2572Tyr	coding	Benign
6	56553222	C	T	C56553222T	DST	NM_015548.5(DST):c.7701G>A:p.Glu2567=	coding	Benign
6	56553576	C	T	C56553576T	DST	NM_015548.5(DST):c.7347G>A:p.Trp2449Ter	coding	Pathogenic/Likely_pathogenic
6	56553601	T	C	T56553601C	DST	NM_015548.5(DST):c.7322A>G:p.Gln2441Arg	coding	Benign
6	56555522	A	G	A56555522G	DST	NM_015548.5(DST):c.7090T>C:p.Leu2364=	coding	Benign
6	56557498	T	G	T56557498G	DST	NM_015548.5(DST):c.6592A>C:p.Asn2198His	coding	Benign
6	56560421	C	T	C56560421T	DST	NM_015548.5(DST):c.6444G>A:p.Ser2148=	coding	Benign
6	56560422	G	A	G56560422A	DST	NM_015548.5(DST):c.6443C>T:p.Ser2148Leu	coding	Benign
6	56561401	C	T	C56561401T	DST	NM_015548.5(DST):c.6348G>A:p.Trp2116Ter	coding	Pathogenic
6	56561444	T	C	T56561444C	DST	NM_015548.5(DST):c.6305A>G:p.Lys2102Arg	coding	Benign
6	56561448	A	G	A56561448G	DST	NM_015548.5(DST):c.6301T>C:p.Ser2101Pro	coding	Benign
6	56561467	C	T	C56561467T	DST	NM_015548.5(DST):c.6282G>A:p.Ala2094=	coding	Benign
6	56562133	C	T	C56562133T	DST	NM_015548.5(DST):c.6199+5G>A	noncoding	Benign
6	56562149	C	T	C56562149T	DST	NM_015548.5(DST):c.6188G>A:p.Trp2063Ter	coding	Pathogenic
6	56569914	G	T	G56569914T	DST	NM_015548.5(DST):c.5951C>A:p.Pro1984His	coding	Benign
6	56593753	G	A	G56593753A	DST	NM_015548.5(DST):c.4767C>T:p.Asp1589=	coding	Benign
6	56593771	T	C	T56593771C	DST	NM_015548.5(DST):c.4749A>G:p.Lys1583=	coding	Benign
6	56594038	A	C	A56594038C	DST	NM_015548.5(DST):c.4482T>G:p.Thr1494=	coding	Benign
6	56598612	T	C	T56598612C	DST	NM_015548.5(DST):c.3923A>G:p.Gln1308Arg	coding	Benign
6	56614424	C	A	C56614424A	DST	NM_015548.5(DST):c.3379G>T:p.Val1127Leu	coding	Benign
6	56615702	T	C	T56615702C	DST	NM_015548.5(DST):c.3319-1218A>G	coding	Benign/Likely_benign
6	56615924	G	A	G56615924A	DST	NM_015548.5(DST):c.3319-1440C>T	coding	Pathogenic
6	56616262	T	C	T56616262C	DST	NM_015548.5(DST):c.3319-1778A>G	coding	Benign
6	56616834	T	C	T56616834C	DST	NM_015548.5(DST):c.3319-2350A>G	coding	Benign/Likely_benign
6	56616969	C	T	C56616969T	DST	NM_015548.5(DST):c.3319-2485G>A	coding	Benign
6	56618003	C	G	C56618003G	DST	NM_015548.5(DST):c.3319-3519G>C	coding	Benign
6	56618028	G	A	G56618028A	DST	NM_015548.5(DST):c.3319-3544C>T	coding	Benign
6	56618459	G	A	G56618459A	DST	NM_015548.5(DST):c.3319-3975C>T	coding	Pathogenic
6	56618481	T	C	T56618481C	DST	NM_015548.5(DST):c.3319-3997A>G	coding	Benign
6	56618549	G	C	G56618549C	DST	NM_015548.5(DST):c.3319-4065C>G	coding	Benign/Likely_benign
6	56618606	A	G	A56618606G	DST	NM_015548.5(DST):c.3319-4122T>C	coding	Benign
6	56618618	G	A	G56618618A	DST	NM_015548.5(DST):c.3319-4134C>T	coding	Pathogenic
6	56618979	A	G	A56618979G	DST	NM_015548.5(DST):c.3319-4495T>C	coding	Benign/Likely_benign
6	56619041	G	A	G56619041A	DST	NM_015548.5(DST):c.3319-4557C>T	coding	Pathogenic
6	56619054	T	G	T56619054G	DST	NM_015548.5(DST):c.3319-4570A>C	coding	Benign/Likely_benign
6	56619229	A	C	A56619229C	DST	NM_015548.5(DST):c.3319-4745T>G	coding	Pathogenic
6	56619271	A	T	A56619271T	DST	NM_015548.5(DST):c.3319-4787T>A	coding	Pathogenic
6	56619314	G	A	G56619314A	DST	NM_015548.5(DST):c.3319-4830C>T	coding	Pathogenic
6	56619360	G	A	G56619360A	DST	NM_015548.5(DST):c.3319-4876C>T	coding	Benign/Likely_benign
6	56619745	G	A	G56619745A	DST	NM_015548.5(DST):c.3318+4785C>T	coding	Benign/Likely_benign
6	56619938	G	A	G56619938A	DST	NM_015548.5(DST):c.3318+4592C>T	coding	Pathogenic
6	56619960	C	T	C56619960T	DST	NM_015548.5(DST):c.3318+4570G>A	coding	Benign
6	56620023	C	T	C56620023T	DST	NM_015548.5(DST):c.3318+4507G>A	coding	Benign
6	56620225	T	C	T56620225C	DST	NM_015548.5(DST):c.3318+4305A>G	coding	Benign/Likely_benign
6	56620289	T	A	T56620289A	DST	NM_015548.5(DST):c.3318+4241A>T	coding	Pathogenic
6	56620310	A	G	A56620310G	DST	NM_015548.5(DST):c.3318+4220T>C	coding	Benign
6	56620568	G	A	G56620568A	DST	NM_015548.5(DST):c.3318+3962C>T	coding	Pathogenic
6	56620688	G	A	G56620688A	DST	NM_015548.5(DST):c.3318+3842C>T	coding	Benign/Likely_benign
6	56620719	C	T	C56620719T	DST	NM_015548.5(DST):c.3318+3811G>A	noncoding	Benign
6	56624614	C	T	C56624614T	DST	NM_015548.5(DST):c.3234G>A:p.Arg1078=	coding	Benign
6	56624631	G	T	G56624631T	DST	NM_015548.5(DST):c.3220-3C>A	noncoding	Benign/Likely_benign
6	56627275	C	A	C56627275A	DST	NM_015548.5(DST):c.3040G>T:p.Glu1014Ter	coding	Pathogenic
6	56628047	A	C	A56628047C	DST	NM_015548.5(DST):c.2979T>G:p.Asn993Lys	coding	Benign/Likely_benign
6	56629273	A	G	A56629273G	DST	NM_015548.5(DST):c.2841T>C:p.Asn947=	coding	Benign/Likely_benign
6	56630326	T	C	T56630326C	DST	NM_015548.5(DST):c.2589A>G:p.Lys863=	coding	Benign/Likely_benign
6	56631281	G	A	G56631281A	DST	NM_015548.5(DST):c.2461C>T:p.Arg821Ter	coding	Pathogenic
6	56631291	G	A	G56631291A	DST	NM_015548.5(DST):c.2451C>T:p.Val817=	coding	Benign/Likely_benign
6	56632942	G	T	G56632942T	DST	NM_015548.5(DST):c.2106C>A:p.Val702=	coding	Benign
6	56634196	C	T	C56634196T	DST	NM_015548.5(DST):c.1946G>A:p.Ser649Asn	coding	Benign
6	56634464	G	A	G56634464A	DST	NM_015548.5(DST):c.1881C>T:p.Asn627=	coding	Benign/Likely_benign
6	56639576	T	A	T56639576A	DST	NM_015548.5(DST):c.1122A>T:p.Thr374=	coding	Benign/Likely_benign
6	56640063	G	A	G56640063A	DST	NM_015548.5(DST):c.880-6C>T	noncoding	Benign
6	56640247	G	A	G56640247A	DST	NM_015548.5(DST):c.775C>T:p.Arg259Ter	coding	Pathogenic
6	56640265	A	G	A56640265G	DST	NM_015548.5(DST):c.757T>C:p.Leu253=	coding	Benign
6	56642691	A	G	A56642691G	DST	NM_015548.5(DST):c.98T>C:p.Leu33Ser	coding	Benign
6	56954528	G	C	G56954528C	DST	NM_001144769.3(DST):c.60C>G:p.Phe20Leu	coding	Benign
6	57187131	T	C	T57187131C	RAB23	NM_016277.5(RAB23):c.*3330A>G	noncoding	Benign
6	57187976	T	C	T57187976C	RAB23	NM_016277.5(RAB23):c.*2485A>G	noncoding	Benign
6	57188036	C	T	C57188036T	RAB23	NM_016277.5(RAB23):c.*2425G>A	noncoding	Benign
6	57188188	A	G	A57188188G	RAB23	NM_016277.5(RAB23):c.*2273T>C	noncoding	Benign
6	57188721	G	A	G57188721A	RAB23	NM_016277.5(RAB23):c.*1740C>T	noncoding	Benign
6	57189650	C	T	C57189650T	RAB23	NM_016277.5(RAB23):c.*811G>A	noncoding	Benign
6	57193882	A	G	A57193882G	RAB23	NM_016277.5(RAB23):c.534T>C:p.Ala178=	coding	Benign
6	57194770	C	G	C57194770G	RAB23	NM_016277.5(RAB23):c.481G>C:p.Val161Leu	coding	Pathogenic
6	57194817	A	T	A57194817T	RAB23	NM_016277.5(RAB23):c.434T>A:p.Leu145Ter	coding	Pathogenic
6	57210239	C	A	C57210239A	RAB23	NM_016277.5(RAB23):c.142G>T:p.Glu48Ter	coding	Pathogenic
6	57210403	G	A	G57210403A	RAB23	NM_016277.5(RAB23):c.-23C>T	noncoding	Benign
6	63280226	T	C	T63280226C	LGSN	NM_016571.3(LGSN):c.1325A>G:p.Asp442Gly	coding	Benign
6	63580063	G	T	G63580063T	PTP4A1	NM_003463.4(PTP4A1):c.411G>T:p.Arg137=	coding	Benign
6	63580091	C	T	C63580091T	PTP4A1	NM_003463.4(PTP4A1):c.439C>T:p.Leu147=	coding	Benign
6	63684165	A	G	A63684165G	PHF3	NM_001370348.2(PHF3):c.443A>G:p.Lys148Arg	coding	Benign
6	63684176	G	T	G63684176T	PHF3	NM_001370348.2(PHF3):c.454G>T:p.Ala152Ser	coding	Benign
6	63685016	G	A	G63685016A	PHF3	NM_001370348.2(PHF3):c.1294G>A:p.Glu432Lys	coding	Benign
6	63685801	C	T	C63685801T	PHF3	NM_001370348.2(PHF3):c.2079C>T:p.Asn693=	coding	Benign
6	63703530	C	T	C63703530T	PHF3	NM_001370348.2(PHF3):c.3232-6C>T	noncoding	Benign
6	63712963	G	C	G63712963C	PHF3	NM_001370348.2(PHF3):c.5375G>C:p.Ser1792Thr	coding	Benign
6	63720626	A	T	A63720626T	EYS	NM_001142800.2(EYS):c.9405T>A:p.Tyr3135Ter	coding	Pathogenic/Likely_pathogenic
6	63721001	T	C	T63721001C	EYS	NM_001142800.2(EYS):c.9030A>G:p.Ala3010=	coding	Benign/Likely_benign
6	63721047	A	T	A63721047T	EYS	NM_001142800.2(EYS):c.8984T>A:p.Ile2995Asn	coding	Pathogenic
6	63721202	C	T	C63721202T	EYS	NM_001142800.2(EYS):c.8829G>A:p.Trp2943Ter	coding	Pathogenic
6	63721215	C	G	C63721215G	EYS	NM_001142800.2(EYS):c.8816G>C:p.Cys2939Ser	coding	Pathogenic
6	63721226	G	T	G63721226T	EYS	NM_001142800.2(EYS):c.8805C>A:p.Tyr2935Ter	coding	Pathogenic
6	63721281	A	T	A63721281T	EYS	NM_001142800.2(EYS):c.8750T>A:p.Leu2917Ter	coding	Pathogenic
6	63721297	G	A	G63721297A	EYS	NM_001142800.2(EYS):c.8734C>T:p.Gln2912Ter	coding	Pathogenic
6	63721372	C	A	C63721372A	EYS	NM_001142800.2(EYS):c.8659G>T:p.Gly2887Ter	coding	Pathogenic
6	63721441	C	A	C63721441A	EYS	NM_001142800.2(EYS):c.8590G>T:p.Gly2864Ter	coding	Pathogenic
6	63721486	G	A	G63721486A	EYS	NM_001142800.2(EYS):c.8545C>T:p.Arg2849Ter	coding	Pathogenic/Likely_pathogenic
6	63721748	G	C	G63721748C	EYS	NM_001142800.2(EYS):c.8283C>G:p.Tyr2761Ter	coding	Pathogenic
6	63726585	G	A	G63726585A	EYS	NM_001142800.2(EYS):c.8167C>T:p.Gln2723Ter	coding	Pathogenic
6	63726609	G	A	G63726609A	EYS	NM_001142800.2(EYS):c.8143C>T:p.Arg2715Ter	coding	Pathogenic
6	63726641	A	C	A63726641C	EYS	NM_001142800.2(EYS):c.8111T>G:p.Leu2704Ter	coding	Pathogenic/Likely_pathogenic
6	63726645	C	A	C63726645A	EYS	NM_001142800.2(EYS):c.8107G>T:p.Glu2703Ter	coding	Pathogenic
6	63762520	A	T	A63762520T	EYS	NM_001142800.2(EYS):c.8012T>A:p.Leu2671Ter	coding	Pathogenic
6	63762613	C	T	C63762613T	EYS	NM_001142800.2(EYS):c.7919G>A:p.Trp2640Ter	coding	Pathogenic
6	63778111	C	T	C63778111T	EYS	NM_001142800.2(EYS):c.7793G>A:p.Gly2598Asp	coding	Pathogenic
6	63788131	C	T	C63788131T	EYS	NM_001142800.2(EYS):c.7697G>A:p.Gly2566Glu	coding	Benign
6	63788162	T	A	T63788162A	EYS	NM_001142800.2(EYS):c.7666A>T:p.Ser2556Cys	coding	Benign
6	63788231	T	C	T63788231C	EYS	NM_001142800.2(EYS):c.7597A>G:p.Lys2533Glu	coding	Benign
6	63789064	C	T	C63789064T	EYS	NM_001142800.2(EYS):c.7572G>A:p.Trp2524Ter	coding	Pathogenic
6	63789078	A	G	A63789078G	EYS	NM_001142800.2(EYS):c.7558T>C:p.Phe2520Leu	coding	Benign
6	63806232	G	A	G63806232A	EYS	NM_001142800.2(EYS):c.7369C>T:p.Leu2457=	coding	Benign
6	63864185	C	T	C63864185T	EYS	NM_001142800.2(EYS):c.7228+1G>A	noncoding	Pathogenic
6	63864307	C	T	C63864307T	EYS	NM_001142800.2(EYS):c.7107G>A:p.Leu2369=	coding	Benign
6	63864319	A	C	A63864319C	EYS	NM_001142800.2(EYS):c.7095T>G:p.Tyr2365Ter	coding	Pathogenic
6	63984432	C	T	C63984432T	EYS	NM_001142800.2(EYS):c.7006G>A:p.Val2336Ile	coding	Benign
6	63984461	C	T	C63984461T	EYS	NM_001142800.2(EYS):c.6977G>A:p.Arg2326Gln	coding	Benign
6	63984462	G	A	G63984462A	EYS	NM_001142800.2(EYS):c.6976C>T:p.Arg2326Ter	coding	Pathogenic/Likely_pathogenic
6	63984558	G	A	G63984558A	EYS	NM_001142800.2(EYS):c.6880C>T:p.Gln2294Ter	coding	Pathogenic
6	64066328	C	T	C64066328T	EYS	NM_001142800.2(EYS):c.6725+10G>A	noncoding	Benign
6	64081864	A	G	A64081864G	EYS	NM_001142800.2(EYS):c.6563T>C:p.Ile2188Thr	coding	Pathogenic
6	64081870	C	T	C64081870T	EYS	NM_001142800.2(EYS):c.6557G>A:p.Gly2186Glu	coding	Pathogenic
6	64081899	G	T	G64081899T	EYS	NM_001142800.2(EYS):c.6528C>A:p.Tyr2176Ter	coding	Pathogenic/Likely_pathogenic
6	64081975	T	C	T64081975C	EYS	NM_001142800.2(EYS):c.6452A>G:p.Asn2151Ser	coding	Benign/Likely_benign
6	64081983	T	C	T64081983C	EYS	NM_001142800.2(EYS):c.6444A>G:p.Pro2148=	coding	Benign
6	64230642	G	C	G64230642C	EYS	NM_001142800.2(EYS):c.6374C>G:p.Ser2125Ter	coding	Pathogenic
6	64230747	C	T	C64230747T	EYS	NM_001142800.2(EYS):c.6269G>A:p.Trp2090Ter	coding	Pathogenic
6	64306987	A	C	A64306987C	EYS	NM_001142800.2(EYS):c.6174T>G:p.Tyr2058Ter	coding	Pathogenic
6	64307024	C	T	C64307024T	EYS	NM_001142800.2(EYS):c.6137G>A:p.Trp2046Ter	coding	Pathogenic
6	64388791	T	C	T64388791C	EYS	NM_001142800.2(EYS):c.5977A>G:p.Thr1993Ala	coding	Benign/Likely_benign
6	64388842	T	C	T64388842C	EYS	NM_001142800.2(EYS):c.5928-2A>G	noncoding	Pathogenic
6	64436173	C	A	C64436173A	EYS	NM_001142800.2(EYS):c.5927+1G>T	noncoding	Pathogenic
6	64436244	C	A	C64436244A	EYS	NM_001142800.2(EYS):c.5857G>T:p.Glu1953Ter	coding	Pathogenic
6	64439292	T	A	T64439292A	EYS	NM_001142800.2(EYS):c.5705A>T:p.Asn1902Ile	coding	Benign
6	64590250	G	C	G64590250C	EYS	NM_001142800.2(EYS):c.5617C>G:p.Leu1873Val	coding	Benign
6	64590417	C	T	C64590417T	EYS	NM_001142800.2(EYS):c.5450G>A:p.Trp1817Ter	coding	Pathogenic
6	64590454	G	A	G64590454A	EYS	NM_001142800.2(EYS):c.5413C>T:p.Gln1805Ter	coding	Pathogenic
6	64590456	A	G	A64590456G	EYS	NM_001142800.2(EYS):c.5411T>C:p.Ile1804Thr	coding	Benign
6	64590623	T	G	T64590623G	EYS	NM_001142800.2(EYS):c.5244A>C:p.Leu1748Phe	coding	Benign
6	64590624	A	T	A64590624T	EYS	NM_001142800.2(EYS):c.5243T>A:p.Leu1748Ter	coding	Pathogenic
6	64590823	C	A	C64590823A	EYS	NM_001142800.2(EYS):c.5044G>T:p.Asp1682Tyr	coding	Benign
6	64590912	G	T	G64590912T	EYS	NM_001142800.2(EYS):c.4955C>A:p.Ser1652Ter	coding	Pathogenic
6	64591216	C	A	C64591216A	EYS	NM_001142800.2(EYS):c.4651G>T:p.Glu1551Ter	coding	Pathogenic
6	64591261	G	A	G64591261A	EYS	NM_001142800.2(EYS):c.4606C>T:p.Gln1536Ter	coding	Pathogenic
6	64591274	C	T	C64591274T	EYS	NM_001142800.2(EYS):c.4593G>A:p.Glu1531=	coding	Benign
6	64591318	T	C	T64591318C	EYS	NM_001142800.2(EYS):c.4549A>G:p.Ser1517Gly	coding	Benign
6	64591324	G	A	G64591324A	EYS	NM_001142800.2(EYS):c.4543C>T:p.Arg1515Trp	coding	Benign
6	64591515	A	G	A64591515G	EYS	NM_001142800.2(EYS):c.4352T>C:p.Ile1451Thr	coding	Benign
6	64591546	G	A	G64591546A	EYS	NM_001142800.2(EYS):c.4321C>T:p.Gln1441Ter	coding	Pathogenic
6	64591611	A	G	A64591611G	EYS	NM_001142800.2(EYS):c.4256T>C:p.Leu1419Ser	coding	Benign
6	64591668	G	T	G64591668T	EYS	NM_001142800.2(EYS):c.4199C>A:p.Ser1400Ter	coding	Pathogenic/Likely_pathogenic
6	64591747	G	A	G64591747A	EYS	NM_001142800.2(EYS):c.4120C>T:p.Arg1374Ter	coding	Pathogenic
6	64591774	T	C	T64591774C	EYS	NM_001142800.2(EYS):c.4093A>G:p.Lys1365Glu	coding	Benign/Likely_benign
6	64591786	T	C	T64591786C	EYS	NM_001142800.2(EYS):c.4081A>G:p.Ile1361Val	coding	Benign
6	64591822	G	A	G64591822A	EYS	NM_001142800.2(EYS):c.4045C>T:p.Arg1349Ter	coding	Pathogenic
6	64591841	G	A	G64591841A	EYS	NM_001142800.2(EYS):c.4026C>T:p.Ser1342=	coding	Benign
6	64591894	G	C	G64591894C	EYS	NM_001142800.2(EYS):c.3973C>G:p.Gln1325Glu	coding	Benign
6	64591931	T	C	T64591931C	EYS	NM_001142800.2(EYS):c.3936A>G:p.Thr1312=	coding	Benign
6	64591961	G	A	G64591961A	EYS	NM_001142800.2(EYS):c.3906C>T:p.His1302=	coding	Benign
6	64593207	T	C	T64593207C	EYS	NM_001142800.2(EYS):c.3787A>G:p.Ile1263Val	coding	Benign
6	64593219	G	A	G64593219A	EYS	NM_001142800.2(EYS):c.3775C>T:p.Gln1259Ter	coding	Pathogenic
6	64593279	C	A	C64593279A	EYS	NM_001142800.2(EYS):c.3715G>T:p.Glu1239Ter	coding	Pathogenic
6	64626128	G	T	G64626128T	EYS	NM_001142800.2(EYS):c.3561C>A:p.Cys1187Ter	coding	Pathogenic
6	64626250	G	A	G64626250A	EYS	NM_001142800.2(EYS):c.3444-5C>T	noncoding	Benign
6	64813377	C	A	C64813377A	EYS	NM_001142800.2(EYS):c.3443+1G>T	noncoding	Pathogenic/Likely_pathogenic
6	64821644	C	T	C64821644T	EYS	NM_001142800.2(EYS):c.3243+1G>A	noncoding	Pathogenic
6	64822791	G	T	G64822791T	EYS	NM_001142800.2(EYS):c.3024C>A:p.Cys1008Ter	coding	Pathogenic
6	64822812	A	T	A64822812T	EYS	NM_001142800.2(EYS):c.3003T>A:p.Cys1001Ter	coding	Pathogenic/Likely_pathogenic
6	64886800	A	T	A64886800T	EYS	NM_001142800.2(EYS):c.2889T>A:p.Cys963Ter	coding	Pathogenic
6	64902148	G	T	G64902148T	EYS	NM_001142800.2(EYS):c.2811C>A:p.Cys937Ter	coding	Pathogenic
6	64902211	G	T	G64902211T	EYS	NM_001142800.2(EYS):c.2748C>A:p.Cys916Ter	coding	Pathogenic
6	64902220	C	T	C64902220T	EYS	NM_001142800.2(EYS):c.2739G>A:p.Arg913=	coding	Benign/Likely_benign
6	64902409	A	G	A64902409G	EYS	NM_001142800.2(EYS):c.2733T>C:p.Asn911=	coding	Benign/Likely_benign
6	64912505	G	A	G64912505A	EYS	NM_001142800.2(EYS):c.2620C>T:p.Gln874Ter	coding	Pathogenic
6	64912570	A	G	A64912570G	EYS	NM_001142800.2(EYS):c.2555T>C:p.Leu852Pro	coding	Benign
6	64912625	C	T	C64912625T	EYS	NM_001142800.2(EYS):c.2500G>A:p.Val834Ile	coding	Benign
6	64945794	G	A	G64945794A	EYS	NM_001142800.2(EYS):c.2380C>T:p.Arg794Ter	coding	Pathogenic
6	64997572	G	A	G64997572A	EYS	NM_001142800.2(EYS):c.2259+10C>T	noncoding	Benign
6	64997581	C	T	C64997581T	EYS	NM_001142800.2(EYS):c.2259+1G>A	noncoding	Pathogenic
6	64997647	G	A	G64997647A	EYS	NM_001142800.2(EYS):c.2194C>T:p.Gln732Ter	coding	Pathogenic/Likely_pathogenic
6	64997684	G	A	G64997684A	EYS	NM_001142800.2(EYS):c.2157C>T:p.Cys719=	coding	Benign/Likely_benign
6	65057642	G	C	G65057642C	EYS	NM_001142800.2(EYS):c.2109C>G:p.Tyr703Ter	coding	Pathogenic
6	65057696	A	T	A65057696T	EYS	NM_001142800.2(EYS):c.2055T>A:p.Cys685Ter	coding	Pathogenic
6	65057741	G	A	G65057741A	EYS	NM_001142800.2(EYS):c.2024-14C>T	noncoding	Benign
6	65295901	C	A	C65295901A	EYS	NM_001142800.2(EYS):c.1985G>T:p.Arg662Met	coding	Benign/Likely_benign
6	65295964	T	A	T65295964A	EYS	NM_001142800.2(EYS):c.1922A>T:p.Glu641Val	coding	Benign
6	65295995	C	T	C65295995T	EYS	NM_001142800.2(EYS):c.1891G>A:p.Gly631Ser	coding	Benign
6	65296077	G	A	G65296077A	EYS	NM_001142800.2(EYS):c.1809C>T:p.Val603=	coding	Benign/Likely_benign
6	65335034	T	C	T65335034C	EYS	NM_001142800.2(EYS):c.1712A>G:p.Gln571Arg	coding	Benign/Likely_benign
6	65335073	C	T	C65335073T	EYS	NM_001142800.2(EYS):c.1673G>A:p.Trp558Ter	coding	Pathogenic
6	65335096	A	C	A65335096C	EYS	NM_001142800.2(EYS):c.1650T>G:p.Tyr550Ter	coding	Pathogenic
6	65344025	A	G	A65344025G	EYS	NM_001142800.2(EYS):c.1599+13T>C	noncoding	Benign
6	65344158	G	T	G65344158T	EYS	NM_001142800.2(EYS):c.1479C>A:p.Cys493Ter	coding	Pathogenic
6	65353491	G	A	G65353491A	EYS	NM_001142800.2(EYS):c.1426C>T:p.Gln476Ter	coding	Pathogenic
6	65353609	G	T	G65353609T	EYS	NM_001142800.2(EYS):c.1308C>A:p.Cys436Ter	coding	Pathogenic
6	65353620	G	A	G65353620A	EYS	NM_001142800.2(EYS):c.1300-3C>T	noncoding	Benign
6	65402507	A	T	A65402507T	EYS	NM_001142800.2(EYS):c.1155T>A:p.Cys385Ter	coding	Pathogenic
6	65402516	A	G	A65402516G	EYS	NM_001142800.2(EYS):c.1146T>C:p.Asn382=	coding	Benign
6	65405242	C	T	C65405242T	EYS	NM_001142800.2(EYS):c.988G>A:p.Glu330Lys	coding	Benign
6	65405349	G	C	G65405349C	EYS	NM_001142800.2(EYS):c.881C>G:p.Ser294Ter	coding	Pathogenic/Likely_pathogenic
6	65490679	C	T	C65490679T	EYS	NM_001142800.2(EYS):c.777G>A:p.Gln259=	coding	Benign/Likely_benign
6	65490708	C	G	C65490708G	EYS	NM_001142800.2(EYS):c.749-1G>C	coding	Pathogenic/Likely_pathogenic
6	65494777	G	A	G65494777A	EYS	NM_001142800.2(EYS):c.634C>T:p.Gln212Ter	coding	Pathogenic
6	65494805	G	T	G65494805T	EYS	NM_001142800.2(EYS):c.606C>A:p.Cys202Ter	coding	Pathogenic
6	65494921	G	A	G65494921A	EYS	NM_001142800.2(EYS):c.490C>T:p.Arg164Ter	coding	Pathogenic
6	65495052	G	A	G65495052A	EYS	NM_001142800.2(EYS):c.359C>T:p.Thr120Met	coding	Benign
6	65495077	C	T	C65495077T	EYS	NM_001142800.2(EYS):c.334G>A:p.Val112Ile	coding	Benign/Likely_benign
6	65495308	G	A	G65495308A	EYS	NM_001142800.2(EYS):c.103C>T:p.Gln35Ter	coding	Pathogenic
6	65495315	C	T	C65495315T	EYS	NM_001142800.2(EYS):c.96G>A:p.Trp32Ter	coding	Pathogenic
6	65707187	T	C	T65707187C	EYS	NM_001142800.2(EYS):c.-500A>G	noncoding	Benign
6	69675763	A	G	A69675763G	LMBRD1	NM_018368.4(LMBRD1):c.*395T>C	noncoding	Benign
6	69675817	G	A	G69675817A	LMBRD1	NM_018368.4(LMBRD1):c.*341C>T	noncoding	Benign
6	69676428	C	T	C69676428T	LMBRD1	NM_018368.4(LMBRD1):c.1509+22G>A	noncoding	Benign/Likely_benign
6	69697573	A	T	A69697573T	LMBRD1	NM_018368.4(LMBRD1):c.1407T>A:p.Asp469Glu	coding	Benign
6	69700797	G	A	G69700797A	LMBRD1	NM_018368.4(LMBRD1):c.1156C>T:p.Arg386Ter	coding	Pathogenic
6	69701556	T	A	T69701556A	LMBRD1	NM_018368.4(LMBRD1):c.981-11A>T	noncoding	Benign
6	69701878	A	G	A69701878G	LMBRD1	NM_018368.4(LMBRD1):c.980+11T>C	noncoding	Benign
6	69713759	G	A	G69713759A	LMBRD1	NM_018368.4(LMBRD1):c.801C>T:p.Arg267=	coding	Benign
6	69796864	C	G	C69796864G	LMBRD1	NM_018368.4(LMBRD1):c.18G>C:p.Ala6=	coding	Benign
6	69796899	A	T	A69796899T	LMBRD1	NM_018368.4(LMBRD1):c.-18T>A	noncoding	Benign
6	69796998	G	A	G69796998A	LMBRD1	NM_018368.4(LMBRD1):c.-117C>T	noncoding	Benign
6	70232616	G	T	G70232616T	COL9A1	NM_001851.5(COL9A1):c.2470C>A:p.Pro824Thr	coding	Benign
6	70234554	T	C	T70234554C	COL9A1	NM_001851.5(COL9A1):c.2299A>G:p.Met767Val	coding	Benign
6	70234582	C	T	C70234582T	COL9A1	NM_001851.5(COL9A1):c.2271G>A:p.Pro757=	coding	Benign
6	70234762	A	G	A70234762G	COL9A1	NM_001851.5(COL9A1):c.2259+32T>C	noncoding	Benign
6	70241400	A	C	A70241400C	COL9A1	NM_001851.5(COL9A1):c.2034+19T>G	noncoding	Benign
6	70241400	A	G	A70241400G	COL9A1	NM_001851.5(COL9A1):c.2034+19T>C	noncoding	Benign
6	70241549	G	A	G70241549A	COL9A1	NM_001851.5(COL9A1):c.1999-95C>T	noncoding	Benign
6	70241970	A	C	A70241970C	COL9A1	NM_001851.5(COL9A1):c.1992T>G:p.Gly664=	coding	Benign
6	70242278	G	A	G70242278A	COL9A1	NM_001851.5(COL9A1):c.1927-243C>T	noncoding	Benign
6	70242362	A	G	A70242362G	COL9A1	NM_001851.5(COL9A1):c.1926+300T>C	noncoding	Benign
6	70252042	A	G	A70252042G	COL9A1	NM_001851.5(COL9A1):c.1872+78T>C	noncoding	Benign
6	70252130	T	C	T70252130C	COL9A1	NM_001851.5(COL9A1):c.1862A>G:p.Gln621Arg	coding	Benign
6	70252336	C	T	C70252336T	COL9A1	NM_001851.5(COL9A1):c.1765-21G>A	noncoding	Benign
6	70252341	A	G	A70252341G	COL9A1	NM_001851.5(COL9A1):c.1765-26T>C	noncoding	Benign
6	70252516	G	A	G70252516A	COL9A1	NM_001851.5(COL9A1):c.1765-201C>T	noncoding	Benign
6	70253421	A	C	A70253421C	COL9A1	NM_001851.5(COL9A1):c.1728T>G:p.Pro576=	coding	Benign
6	70253453	T	G	T70253453G	COL9A1	NM_001851.5(COL9A1):c.1720-24A>C	noncoding	Benign
6	70254561	C	T	C70254561T	COL9A1	NM_001851.5(COL9A1):c.1666-32G>A	noncoding	Benign/Likely_benign
6	70254972	A	G	A70254972G	COL9A1	NM_001851.5(COL9A1):c.1656T>C:p.Pro552=	coding	Benign
6	70255042	G	T	G70255042T	COL9A1	NM_001851.5(COL9A1):c.1612-26C>A	noncoding	Benign
6	70255192	A	T	A70255192T	COL9A1	NM_001851.5(COL9A1):c.1569T>A:p.Gly523=	coding	Benign/Likely_benign
6	70255375	G	A	G70255375A	COL9A1	NM_001851.5(COL9A1):c.1519C>T:p.Arg507Ter	coding	Pathogenic
6	70255404	A	T	A70255404T	COL9A1	NM_001851.5(COL9A1):c.1504-14T>A	noncoding	Benign
6	70255422	A	C	A70255422C	COL9A1	NM_001851.5(COL9A1):c.1504-32T>G	noncoding	Benign
6	70256470	A	G	A70256470G	COL9A1	NM_001851.5(COL9A1):c.1503+298T>C	noncoding	Benign
6	70260695	G	A	G70260695A	COL9A1	NM_001851.5(COL9A1):c.1411C>T:p.Arg471Ter	coding	Pathogenic/Likely_pathogenic
6	70260798	A	G	A70260798G	COL9A1	NM_001851.5(COL9A1):c.1396-88T>C	noncoding	Benign
6	70263005	T	C	T70263005C	COL9A1	NM_001851.5(COL9A1):c.1395+239A>G	noncoding	Benign
6	70263290	T	C	T70263290C	COL9A1	NM_001851.5(COL9A1):c.1349A>G:p.Glu450Gly	coding	Benign/Likely_benign
6	70263449	A	C	A70263449C	COL9A1	NM_001851.5(COL9A1):c.1342-152T>G	noncoding	Benign
6	70263497	A	T	A70263497T	COL9A1	NM_001851.5(COL9A1):c.1342-200T>A	noncoding	Benign
6	70266600	A	T	A70266600T	COL9A1	NM_001851.5(COL9A1):c.1341+117T>A	noncoding	Benign
6	70266774	A	T	A70266774T	COL9A1	NM_001851.5(COL9A1):c.1288-4T>A	noncoding	Benign/Likely_benign
6	70266779	T	C	T70266779C	COL9A1	NM_001851.5(COL9A1):c.1288-9A>G	noncoding	Benign/Likely_benign
6	70266958	T	G	T70266958G	COL9A1	NM_001851.5(COL9A1):c.1288-188A>C	noncoding	Benign
6	70268694	T	C	T70268694C	COL9A1	NM_001851.5(COL9A1):c.1287+110A>G	noncoding	Benign
6	70269580	G	T	G70269580T	COL9A1	NM_001851.5(COL9A1):c.1230+53C>A	noncoding	Benign
6	70269621	A	G	A70269621G	COL9A1	NM_001851.5(COL9A1):c.1230+12T>C	noncoding	Benign
6	70270049	G	A	G70270049A	COL9A1	NM_001851.5(COL9A1):c.1197+265C>T	noncoding	Benign
6	70270303	A	G	A70270303G	COL9A1	NM_001851.5(COL9A1):c.1197+11T>C	noncoding	Benign/Likely_benign
6	70270631	A	G	A70270631G	COL9A1	NM_001851.5(COL9A1):c.1144-264T>C	noncoding	Benign
6	70271347	G	C	G70271347C	COL9A1	NM_001851.5(COL9A1):c.1143+308C>G	noncoding	Benign
6	70272083	A	G	A70272083G	COL9A1	NM_001851.5(COL9A1):c.1071T>C:p.Arg357=	coding	Benign
6	70272091	A	G	A70272091G	COL9A1	NM_001851.5(COL9A1):c.1066-3T>C	noncoding	Benign
6	70272124	G	T	G70272124T	COL9A1	NM_001851.5(COL9A1):c.1066-36C>A	noncoding	Benign
6	70272306	T	A	T70272306A	COL9A1	NM_001851.5(COL9A1):c.1066-218A>T	noncoding	Benign
6	70272361	T	G	T70272361G	COL9A1	NM_001851.5(COL9A1):c.1066-273A>C	noncoding	Benign
6	70272404	G	T	G70272404T	COL9A1	NM_001851.5(COL9A1):c.1066-316C>A	noncoding	Benign
6	70272412	C	T	C70272412T	COL9A1	NM_001851.5(COL9A1):c.1066-324G>A	noncoding	Benign
6	70273776	G	A	G70273776A	COL9A1	NM_001851.5(COL9A1):c.1065+271C>T	noncoding	Benign
6	70274059	C	T	C70274059T	COL9A1	NM_001851.5(COL9A1):c.1053G>A:p.Ser351=	coding	Benign/Likely_benign
6	70274102	C	A	C70274102A	COL9A1	NM_001851.5(COL9A1):c.1030-20G>T	noncoding	Benign
6	70274733	A	G	A70274733G	COL9A1	NM_001851.5(COL9A1):c.1015T>C:p.Ser339Pro	coding	Benign
6	70274945	G	T	G70274945T	COL9A1	NM_001851.5(COL9A1):c.976-173C>A	noncoding	Benign
6	70280767	C	T	C70280767T	COL9A1	NM_001851.5(COL9A1):c.975+45G>A	noncoding	Benign
6	70281012	C	T	C70281012T	COL9A1	NM_001851.5(COL9A1):c.904G>A:p.Gly302Ser	coding	Benign/Likely_benign
6	70281033	G	A	G70281033A	COL9A1	NM_001851.5(COL9A1):c.883C>T:p.Arg295Ter	coding	Pathogenic
6	70281062	G	C	G70281062C	COL9A1	NM_001851.5(COL9A1):c.877-23C>G	noncoding	Benign
6	70281377	G	A	G70281377A	COL9A1	NM_001851.5(COL9A1):c.876+13C>T	noncoding	Benign
6	70281384	A	G	A70281384G	COL9A1	NM_001851.5(COL9A1):c.876+6T>C	noncoding	Benign/Likely_benign
6	70283357	C	T	C70283357T	COL9A1	NM_001851.5(COL9A1):c.780+380G>A	noncoding	Benign
6	70283566	A	C	A70283566C	COL9A1	NM_001851.5(COL9A1):c.780+171T>G	noncoding	Benign
6	70294554	A	T	A70294554T	COL9A1	NM_001851.6(COL9A1):c.309T>A:p.Tyr103Ter	coding	Pathogenic
6	70300337	C	T	C70300337T	COL9A1	NM_001851.5(COL9A1):c.138G>A:p.Lys46=	coding	Benign/Likely_benign
6	70300398	A	G	A70300398G	COL9A1	NM_001851.5(COL9A1):c.89-12T>C	noncoding	Benign
6	70301806	C	T	C70301806T	COL9A1	NM_001851.5(COL9A1):c.88+195G>A	noncoding	Benign
6	70301850	A	T	A70301850T	COL9A1	NM_001851.5(COL9A1):c.88+151T>A	noncoding	Benign
6	70301851	C	A	C70301851A	COL9A1	NM_001851.5(COL9A1):c.88+150G>T	noncoding	Benign
6	70301893	G	A	G70301893A	COL9A1	NM_001851.5(COL9A1):c.88+108C>T	noncoding	Benign
6	70302872	T	C	T70302872C	COL9A1	NM_001851.5(COL9A1):c.14+39A>G	noncoding	Benign
6	70303288	G	C	G70303288C	COL9A1	NC_000006.12:g.70303288G>C	noncoding	Benign
6	71886722	C	T	C71886722T	RIMS1	NM_014989.5(RIMS1):c.-302C>T	noncoding	Benign
6	71886884	T	C	T71886884C	RIMS1	NM_014989.5(RIMS1):c.-140T>C	noncoding	Benign
6	71968978	C	G	C71968978G	RIMS1	NM_014989.5(RIMS1):c.165-5C>G	noncoding	Benign
6	72097141	C	T	C72097141T	RIMS1	NM_014989.5(RIMS1):c.438C>T:p.Arg146=	coding	Benign
6	72097161	A	C	A72097161C	RIMS1	NM_014989.5(RIMS1):c.458A>C:p.Asn153Thr	coding	Benign
6	72097174	A	G	A72097174G	RIMS1	NM_014989.5(RIMS1):c.459+12A>G	noncoding	Benign
6	72179697	A	G	A72179697G	RIMS1	NM_014989.5(RIMS1):c.594A>G:p.Thr198=	coding	Benign
6	72179751	G	A	G72179751A	RIMS1	NM_014989.5(RIMS1):c.648G>A:p.Ser216=	coding	Benign
6	72179769	A	G	A72179769G	RIMS1	NM_014989.5(RIMS1):c.666A>G:p.Leu222=	coding	Benign
6	72179846	C	T	C72179846T	RIMS1	NM_014989.5(RIMS1):c.743C>T:p.Ser248Leu	coding	Benign
6	72182270	T	G	T72182270G	RIMS1	NM_014989.5(RIMS1):c.813-14T>G	noncoding	Benign
6	72182413	G	A	G72182413A	RIMS1	NM_014989.5(RIMS1):c.942G>A:p.Arg314=	coding	Benign
6	72182554	A	G	A72182554G	RIMS1	NM_014989.5(RIMS1):c.1083A>G:p.Leu361=	coding	Benign
6	72182680	G	A	G72182680A	RIMS1	NM_014989.5(RIMS1):c.1209G>A:p.Ala403=	coding	Benign
6	72182930	G	A	G72182930A	RIMS1	NM_014989.5(RIMS1):c.1459G>A:p.Ala487Thr	coding	Benign
6	72235647	G	A	G72235647A	RIMS1	NM_014989.5(RIMS1):c.1776G>A:p.Glu592=	coding	Benign
6	72235789	C	T	C72235789T	RIMS1	NM_014989.5(RIMS1):c.1857+61C>T	noncoding	Benign
6	72245806	T	C	T72245806C	RIMS1	NM_014989.5(RIMS1):c.2082-9T>C	noncoding	Benign
6	72250318	C	T	C72250318T	RIMS1	NM_014989.5(RIMS1):c.2242-12C>T	noncoding	Benign
6	72250455	T	C	T72250455C	RIMS1	NM_014989.5(RIMS1):c.2367T>C:p.Asp789=	coding	Benign/Likely_benign
6	72251340	T	C	T72251340C	RIMS1	NM_014989.5(RIMS1):c.2670T>C:p.His890=	coding	Benign
6	72258249	G	A	G72258249A	RIMS1	NM_014989.5(RIMS1):c.2895G>A:p.Pro965=	coding	Benign
6	72258906	C	T	C72258906T	RIMS1	NM_014989.5(RIMS1):c.2928-80C>T	noncoding	Benign
6	72265029	C	T	C72265029T	RIMS1	NM_014989.5(RIMS1):c.3171C>T:p.Ser1057=	coding	Benign
6	72265053	G	A	G72265053A	RIMS1	NM_014989.5(RIMS1):c.3194+1G>A	coding	Pathogenic/Likely_pathogenic
6	72265061	C	A	C72265061A	RIMS1	NM_014989.5(RIMS1):c.3194+9C>A	noncoding	Benign
6	72265515	T	G	T72265515G	RIMS1	NM_014989.5(RIMS1):c.3308+12T>G	noncoding	Benign
6	72274415	G	A	G72274415A	RIMS1	NM_014989.5(RIMS1):c.3465G>A:p.Ala1155=	coding	Benign/Likely_benign
6	72274420	C	T	C72274420T	RIMS1	NM_014989.5(RIMS1):c.3470C>T:p.Pro1157Leu	coding	Benign
6	72274421	G	A	G72274421A	RIMS1	NM_014989.5(RIMS1):c.3471G>A:p.Pro1157=	coding	Benign
6	72291982	G	A	G72291982A	RIMS1	NM_014989.5(RIMS1):c.3786G>A:p.Ser1262=	coding	Benign/Likely_benign
6	72307348	T	C	T72307348C	RIMS1	NM_014989.5(RIMS1):c.3941T>C:p.Leu1314Pro	coding	Benign
6	72390746	G	A	G72390746A	RIMS1	NM_014989.5(RIMS1):c.4505+10G>A	noncoding	Benign
6	72392740	C	T	C72392740T	RIMS1	NM_014989.5(RIMS1):c.4548C>T:p.Phe1516=	coding	Benign
6	72399076	A	G	A72399076G	RIMS1	NM_014989.5(RIMS1):c.4842A>G:p.Pro1614=	coding	Benign
6	72399109	G	A	G72399109A	RIMS1	NM_014989.5(RIMS1):c.4860+15G>A	noncoding	Benign
6	72400558	C	T	C72400558T	RIMS1	NM_014989.5(RIMS1):c.4923C>T:p.Ile1641=	coding	Benign
6	72400618	G	A	G72400618A	RIMS1	NM_014989.5(RIMS1):c.4983G>A:p.Pro1661=	coding	Benign
6	72400711	A	G	A72400711G	RIMS1	NM_014989.5(RIMS1):c.5076A>G:p.Ser1692=	coding	Benign
6	72400789	G	A	G72400789A	RIMS1	NM_014989.5(RIMS1):c.*75G>A	noncoding	Benign
6	72400852	G	T	G72400852T	RIMS1	NM_014989.5(RIMS1):c.*138G>T	noncoding	Benign
6	72400994	C	T	C72400994T	RIMS1	NM_014989.5(RIMS1):c.*280C>T	noncoding	Benign
6	72400997	A	G	A72400997G	RIMS1	NM_014989.5(RIMS1):c.*283A>G	noncoding	Benign
6	72401497	G	A	G72401497A	RIMS1	NM_014989.5(RIMS1):c.*783G>A	noncoding	Benign
6	72401752	A	G	A72401752G	RIMS1	NM_014989.5(RIMS1):c.*1038A>G	noncoding	Benign
6	72401790	A	G	A72401790G	RIMS1	NM_014989.5(RIMS1):c.*1076A>G	noncoding	Benign
6	72402024	A	G	A72402024G	RIMS1	NM_014989.5(RIMS1):c.*1310A>G	noncoding	Benign
6	72402172	A	T	A72402172T	RIMS1	NM_014989.5(RIMS1):c.*1458A>T	noncoding	Benign
6	72402208	T	C	T72402208C	RIMS1	NM_014989.5(RIMS1):c.*1494T>C	noncoding	Benign
6	72402649	A	G	A72402649G	RIMS1	NM_014989.5(RIMS1):c.*1935A>G	noncoding	Benign
6	72402678	C	A	C72402678A	RIMS1	NM_014989.5(RIMS1):c.*1964C>A	noncoding	Benign
6	72402705	T	G	T72402705G	RIMS1	NM_014989.5(RIMS1):c.*1991T>G	noncoding	Benign
6	72402763	T	A	T72402763A	RIMS1	NM_014989.5(RIMS1):c.*2049T>A	noncoding	Benign
6	72402839	G	C	G72402839C	RIMS1	NM_014989.5(RIMS1):c.*2125G>C	noncoding	Benign
6	72402965	G	A	G72402965A	RIMS1	NM_014989.5(RIMS1):c.*2251G>A	noncoding	Benign
6	72403005	C	T	C72403005T	RIMS1	NM_014989.5(RIMS1):c.*2291C>T	noncoding	Benign
6	72403143	G	A	G72403143A	RIMS1	NM_014989.5(RIMS1):c.*2429G>A	noncoding	Benign
6	73003943	T	G	T73003943G	KCNQ5	NM_019842.3(KCNQ5):c.434T>G:p.Val145Gly	coding	Pathogenic
6	73105310	A	G	A73105310G	KCNQ5	NM_019842.4(KCNQ5):c.972A>G:p.Gly324=	coding	Benign
6	73105359	C	A	C73105359A	KCNQ5	NM_019842.3(KCNQ5):c.1021C>A:p.Leu341Ile	coding	Pathogenic
6	73111384	C	A	C73111384A	KCNQ5	NM_019842.4(KCNQ5):c.1106C>A:p.Pro369Gln	coding	Pathogenic
6	73111384	C	G	C73111384G	KCNQ5	NM_019842.3(KCNQ5):c.1106C>G:p.Pro369Arg	coding	Pathogenic
6	73133459	G	T	G73133459T	KCNQ5	NM_001160134.1(KCNQ5):c.1247+8947G>T	coding	Pathogenic
6	73195399	T	A	T73195399A	KCNQ5	NM_019842.4(KCNQ5):c.2784T>A:p.His928Gln	coding	Benign
6	73362730	A	G	A73362730G	KHDC3L	NM_001017361.3(KHDC3L):c.1A>G:p.Met1Val	coding	Pathogenic
6	73362732	G	T	G73362732T	KHDC3L	NM_001017361.3(KHDC3L):c.3G>T:p.Met1Ile	coding	Pathogenic
6	73394922	G	A	G73394922A	DDX43	NM_018665.3(DDX43):c.17G>A:p.Gly6Glu	coding	Benign
6	73397714	T	A	T73397714A	DDX43	NM_018665.3(DDX43):c.276T>A:p.Asn92Lys	coding	Benign
6	73462030	G	C	G73462030C	MTO1	NM_012123.4(MTO1):c.176G>C:p.Gly59Ala	coding	Benign
6	73480048	A	G	A73480048G	MTO1	NM_012123.4(MTO1):c.1051A>G:p.Met351Val	coding	Benign/Likely_benign
6	73480056	A	G	A73480056G	MTO1	NM_012123.4(MTO1):c.1059A>G:p.Leu353=	coding	Benign/Likely_benign
6	73480083	C	G	C73480083G	MTO1	NM_012123.4(MTO1):c.1086C>G:p.Ile362Met	coding	Benign/Likely_benign
6	73480725	T	C	T73480725C	MTO1	NM_012123.4(MTO1):c.1180T>C:p.Leu394=	coding	Benign
6	73480746	C	T	C73480746T	MTO1	NM_012123.4(MTO1):c.1201C>T:p.Arg401Ter	coding	Pathogenic
6	73480777	C	T	C73480777T	MTO1	NM_012123.4(MTO1):c.1232C>T:p.Thr411Ile	coding	Pathogenic
6	73481822	G	A	G73481822A	MTO1	NM_012123.4(MTO1):c.1261-218G>A	noncoding	Benign
6	73482061	G	A	G73482061A	MTO1	NM_012123.4(MTO1):c.1282G>A:p.Ala428Thr	coding	Pathogenic/Likely_pathogenic
6	73482103	C	T	C73482103T	MTO1	NM_012123.4(MTO1):c.1324C>T:p.Arg442Ter	coding	Pathogenic/Likely_pathogenic
6	73482147	T	C	T73482147C	MTO1	NM_012123.4(MTO1):c.1368T>C:p.Thr456=	coding	Benign
6	73482209	G	A	G73482209A	MTO1	NM_012123.4(MTO1):c.1430G>A:p.Arg477His	coding	Pathogenic/Likely_pathogenic
6	73482241	C	T	C73482241T	MTO1	NM_133645.3(MTO1):c.1537C>T:p.Arg513Ter	coding	Pathogenic
6	73482699	T	G	T73482699G	MTO1	NM_012123.4(MTO1):c.1637+79T>G	noncoding	Benign
6	73492437	A	C	A73492437C	MTO1	NM_012123.4(MTO1):c.1756+85A>C	noncoding	Benign
6	73497764	A	G	A73497764G	MTO1	NM_012123.4(MTO1):c.1785A>G:p.Gln595=	coding	Benign
6	73497873	C	T	C73497873T	MTO1	NM_012123.4(MTO1):c.1894C>T:p.Leu632=	coding	Benign
6	73500346	A	G	A73500346G	MTO1	NM_012123.4(MTO1):c.1918-228A>G	noncoding	Benign
6	73500567	T	G	T73500567G	MTO1	NM_012123.4(MTO1):c.1918-7T>G	noncoding	Benign
6	73518244	T	C	T73518244C	EEF1A1	NM_001402.6(EEF1A1):c.1050A>G:p.Pro350=	coding	Benign
6	73518468	C	T	C73518468T	EEF1A1	NM_001402.6(EEF1A1):c.915G>A:p.Gly305=	coding	Benign
6	73594692	G	C	G73594692C	SLC17A5	NM_012434.5(SLC17A5):c.*385C>G	noncoding	Benign
6	73594884	T	C	T73594884C	SLC17A5	NM_012434.5(SLC17A5):c.*193A>G	noncoding	Benign
6	73610398	A	G	A73610398G	SLC17A5	NM_012434.5(SLC17A5):c.1259+2T>C	noncoding	Pathogenic
6	73610668	T	A	T73610668A	SLC17A5	NM_012434.5(SLC17A5):c.1112-121A>T	noncoding	Benign
6	73615083	G	A	G73615083A	SLC17A5	NM_012434.5(SLC17A5):c.1111+232C>T	noncoding	Benign
6	73615178	T	C	T73615178C	SLC17A5	NM_012434.5(SLC17A5):c.1111+137A>G	noncoding	Benign
6	73615308	C	T	C73615308T	SLC17A5	NM_012434.5(SLC17A5):c.1111+7G>A	noncoding	Benign/Likely_benign
6	73615425	G	C	G73615425C	SLC17A5	NM_012434.5(SLC17A5):c.1001C>G:p.Pro334Arg	coding	Pathogenic
6	73615534	T	C	T73615534C	SLC17A5	NM_012434.5(SLC17A5):c.979-87A>G	noncoding	Benign
6	73615680	C	T	C73615680T	SLC17A5	NM_012434.5(SLC17A5):c.979-233G>A	noncoding	Benign
6	73621622	T	C	T73621622C	SLC17A5	NM_012434.5(SLC17A5):c.978+182A>G	noncoding	Benign
6	73621716	G	A	G73621716A	SLC17A5	NM_012434.5(SLC17A5):c.978+88C>T	noncoding	Benign
6	73621734	C	T	C73621734T	SLC17A5	NM_012434.5(SLC17A5):c.978+70G>A	noncoding	Benign
6	73621859	A	C	A73621859C	SLC17A5	NM_012434.5(SLC17A5):c.923T>G:p.Leu308Ter	coding	Pathogenic
6	73621864	A	C	A73621864C	SLC17A5	NM_012434.5(SLC17A5):c.918T>G:p.Tyr306Ter	coding	Pathogenic
6	73621896	C	T	C73621896T	SLC17A5	NM_012434.5(SLC17A5):c.886G>A:p.Val296Ile	coding	Benign/Likely_benign
6	73622013	G	C	G73622013C	SLC17A5	NM_012434.5(SLC17A5):c.820-51C>G	noncoding	Benign
6	73622195	G	A	G73622195A	SLC17A5	NM_012434.5(SLC17A5):c.820-233C>T	noncoding	Benign
6	73635253	C	T	C73635253T	SLC17A5	NM_012434.5(SLC17A5):c.819+129G>A	noncoding	Benign
6	73635303	A	C	A73635303C	SLC17A5	NM_012434.5(SLC17A5):c.819+79T>G	noncoding	Benign
6	73635330	C	T	C73635330T	SLC17A5	NM_012434.5(SLC17A5):c.819+52G>A	noncoding	Benign
6	73635381	C	T	C73635381T	SLC17A5	NM_012434.5(SLC17A5):c.819+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	73635392	A	T	A73635392T	SLC17A5	NM_012434.5(SLC17A5):c.809T>A:p.Leu270Ter	coding	Pathogenic
6	73635482	C	T	C73635482T	SLC17A5	NM_012434.5(SLC17A5):c.719G>A:p.Trp240Ter	coding	Pathogenic/Likely_pathogenic
6	73635779	C	G	C73635779G	SLC17A5	NM_012434.5(SLC17A5):c.701-279G>C	noncoding	Benign
6	73635780	T	G	T73635780G	SLC17A5	NM_012434.5(SLC17A5):c.701-280A>C	noncoding	Benign
6	73636449	C	T	C73636449T	SLC17A5	NM_012434.5(SLC17A5):c.700+172G>A	noncoding	Benign
6	73636702	G	A	G73636702A	SLC17A5	NM_012434.5(SLC17A5):c.619C>T:p.Gln207Ter	coding	Pathogenic
6	73638419	T	C	T73638419C	SLC17A5	NM_012434.5(SLC17A5):c.606A>G:p.Ser202=	coding	Benign
6	73638472	T	C	T73638472C	SLC17A5	NM_012434.5(SLC17A5):c.553A>G:p.Met185Val	coding	Benign/Likely_benign
6	73638477	T	C	T73638477C	SLC17A5	NM_012434.5(SLC17A5):c.548A>G:p.His183Arg	coding	Pathogenic
6	73638501	T	C	T73638501C	SLC17A5	NM_012434.5(SLC17A5):c.526-2A>G	noncoding	Pathogenic
6	73641374	C	T	C73641374T	SLC17A5	NM_012434.5(SLC17A5):c.525+317G>A	noncoding	Benign
6	73641810	T	C	T73641810C	SLC17A5	NM_012434.5(SLC17A5):c.406A>G:p.Lys136Glu	coding	Pathogenic/Likely_pathogenic
6	73641946	A	G	A73641946G	SLC17A5	NM_012434.5(SLC17A5):c.292-22T>C	noncoding	Benign
6	73644407	C	T	C73644407T	SLC17A5	NM_012434.5(SLC17A5):c.291G>A:p.Thr97=	coding	Pathogenic/Likely_pathogenic
6	73644452	C	T	C73644452T	SLC17A5	NM_012434.5(SLC17A5):c.246G>A:p.Ala82=	coding	Benign
6	73644477	A	T	A73644477T	SLC17A5	NM_012434.5(SLC17A5):c.221T>A:p.Leu74Ter	coding	Pathogenic
6	73644583	G	A	G73644583A	SLC17A5	NM_012434.5(SLC17A5):c.115C>T:p.Arg39Cys	coding	Pathogenic
6	73653844	C	A	C73653844A	SLC17A5	NM_012434.5(SLC17A5):c.43G>T:p.Glu15Ter	coding	Pathogenic/Likely_pathogenic
6	73653854	G	A	G73653854A	SLC17A5	NM_012434.5(SLC17A5):c.33C>T:p.Asn11=	coding	Benign
6	73736491	A	G	A73736491G	CD109	NM_133493.5(CD109):c.616A>G:p.Ile206Val	coding	Benign
6	73781279	G	T	G73781279T	CD109	NM_133493.5(CD109):c.1923G>T:p.Leu641Phe	coding	Benign
6	73785480	A	G	A73785480G	CD109	NM_133493.5(CD109):c.2337+3A>G	noncoding	Benign
6	73809979	T	G	T73809979G	CD109	NM_133493.5(CD109):c.3356-5T>G	noncoding	Benign
6	73811140	C	T	C73811140T	CD109	NM_133493.5(CD109):c.3695C>T:p.Thr1232Ile	coding	Benign
6	73812225	G	T	G73812225T	CD109	NM_133493.5(CD109):c.3723G>T:p.Thr1241=	coding	Benign
6	73812276	T	A	T73812276A	CD109	NM_133493.5(CD109):c.3768+6T>A	noncoding	Benign
6	73812279	C	T	C73812279T	CD109	NM_133493.5(CD109):c.3768+9C>T	noncoding	Benign
6	73815001	G	A	G73815001A	CD109	NM_133493.5(CD109):c.3789G>A:p.Val1263=	coding	Benign
6	73815034	T	G	T73815034G	CD109	NM_133493.5(CD109):c.3822T>G:p.Ser1274=	coding	Benign
6	73820451	A	G	A73820451G	CD109	NM_133493.5(CD109):c.4060-10A>G	noncoding	Benign
6	73820566	A	G	A73820566G	CD109	NM_133493.5(CD109):c.4162+3A>G	noncoding	Benign
6	75087586	C	T	C75087586T	COL12A1	NM_004370.6(COL12A1):c.9172G>A:p.Gly3058Ser	coding	Benign
6	75087596	G	A	G75087596A	COL12A1	NM_004370.6(COL12A1):c.9162C>T:p.Tyr3054=	coding	Benign
6	75089136	A	G	A75089136G	COL12A1	NM_004370.6(COL12A1):c.8980T>C:p.Ser2994Pro	coding	Benign
6	75089146	A	G	A75089146G	COL12A1	NM_004370.6(COL12A1):c.8970T>C:p.Gly2990=	coding	Benign
6	75090126	T	C	T75090126C	COL12A1	NM_004370.6(COL12A1):c.8925A>G:p.Gly2975=	coding	Benign
6	75091362	G	A	G75091362A	COL12A1	NM_004370.6(COL12A1):c.8713C>T:p.Arg2905Ter	coding	Pathogenic
6	75091544	A	T	A75091544T	COL12A1	NM_004370.6(COL12A1):c.8650-19T>A	noncoding	Benign
6	75095135	T	C	T75095135C	COL12A1	NM_004370.6(COL12A1):c.8622A>G:p.Pro2874=	coding	Benign
6	75095175	C	T	C75095175T	COL12A1	NM_004370.6(COL12A1):c.8582G>A:p.Ser2861Asn	coding	Benign
6	75097265	T	C	T75097265C	COL12A1	NM_004370.6(COL12A1):c.8565A>G:p.Pro2855=	coding	Benign
6	75102004	G	A	G75102004A	COL12A1	NM_004370.6(COL12A1):c.8464C>T:p.Arg2822Ter	coding	Pathogenic
6	75102047	G	A	G75102047A	COL12A1	NM_004370.6(COL12A1):c.8421C>T:p.Arg2807=	coding	Benign
6	75102629	C	A	C75102629A	COL12A1	NM_004370.6(COL12A1):c.8383G>T:p.Gly2795Ter	coding	Pathogenic
6	75102655	C	T	C75102655T	COL12A1	NM_004370.6(COL12A1):c.8357G>A:p.Gly2786Asp	coding	Pathogenic
6	75105187	T	A	T75105187A	COL12A1	NM_004370.6(COL12A1):c.8265+19A>T	noncoding	Benign
6	75105234	A	G	A75105234G	COL12A1	NM_004370.6(COL12A1):c.8237T>C:p.Val2746Ala	coding	Benign/Likely_benign
6	75105302	T	C	T75105302C	COL12A1	NM_004370.6(COL12A1):c.8179-10A>G	noncoding	Benign
6	75109016	A	G	A75109016G	COL12A1	NM_004370.6(COL12A1):c.8100+2T>C	noncoding	Pathogenic
6	75113601	C	T	C75113601T	COL12A1	NM_004370.6(COL12A1):c.7840+1G>A	noncoding	Pathogenic
6	75113656	T	C	T75113656C	COL12A1	NM_004370.6(COL12A1):c.7786A>G:p.Ile2596Val	coding	Benign
6	75117555	T	C	T75117555C	COL12A1	NM_004370.6(COL12A1):c.7355-9A>G	noncoding	Benign
6	75119033	A	T	A75119033T	COL12A1	NM_004370.6(COL12A1):c.7354+10T>A	noncoding	Benign
6	75119098	C	A	C75119098A	COL12A1	NM_004370.6(COL12A1):c.7299G>T:p.Thr2433=	coding	Benign
6	75119420	C	T	C75119420T	COL12A1	NM_004370.6(COL12A1):c.7140G>A:p.Thr2380=	coding	Benign
6	75121387	A	G	A75121387G	COL12A1	NM_004370.6(COL12A1):c.7001T>C:p.Ile2334Thr	coding	Pathogenic/Likely_pathogenic
6	75123971	C	T	C75123971T	COL12A1	NM_004370.6(COL12A1):c.6848G>A:p.Gly2283Glu	coding	Benign
6	75124367	A	T	A75124367T	COL12A1	NM_004370.6(COL12A1):c.6612T>A:p.Tyr2204Ter	coding	Pathogenic
6	75125144	G	A	G75125144A	COL12A1	NM_004370.6(COL12A1):c.6590C>T:p.Thr2197Ile	coding	Benign
6	75125255	T	A	T75125255A	COL12A1	NM_004370.6(COL12A1):c.6479A>T:p.Glu2160Val	coding	Benign
6	75126367	T	A	T75126367A	COL12A1	NM_004370.6(COL12A1):c.6444A>T:p.Ile2148=	coding	Benign
6	75126466	T	C	T75126466C	COL12A1	NM_004370.6(COL12A1):c.6345A>G:p.Gly2115=	coding	Benign
6	75128355	G	T	G75128355T	COL12A1	NM_004370.6(COL12A1):c.6281C>A:p.Thr2094Asn	coding	Benign/Likely_benign
6	75130103	T	G	T75130103G	COL12A1	NM_004370.6(COL12A1):c.6198A>C:p.Pro2066=	coding	Benign
6	75130176	G	T	G75130176T	COL12A1	NM_004370.6(COL12A1):c.6125C>A:p.Ser2042Ter	coding	Pathogenic
6	75130857	C	T	C75130857T	COL12A1	NM_004370.6(COL12A1):c.6062G>A:p.Arg2021Gln	coding	Benign
6	75132003	T	C	T75132003C	COL12A1	NM_004370.6(COL12A1):c.5874A>G:p.Pro1958=	coding	Benign
6	75132006	A	T	A75132006T	COL12A1	NM_004370.6(COL12A1):c.5871T>A:p.Ala1957=	coding	Benign
6	75132018	G	A	G75132018A	COL12A1	NM_004370.6(COL12A1):c.5859C>T:p.Arg1953=	coding	Benign
6	75132087	G	A	G75132087A	COL12A1	NM_004370.6(COL12A1):c.5795-5C>T	noncoding	Benign
6	75133360	G	A	G75133360A	COL12A1	NM_004370.6(COL12A1):c.5727C>T:p.Tyr1909=	coding	Benign
6	75134742	C	T	C75134742T	COL12A1	NM_004370.6(COL12A1):c.5508G>A:p.Thr1836=	coding	Benign
6	75138453	C	T	C75138453T	COL12A1	NM_004370.6(COL12A1):c.5225G>A:p.Arg1742His	coding	Benign
6	75138465	A	G	A75138465G	COL12A1	NM_004370.6(COL12A1):c.5213T>C:p.Ile1738Thr	coding	Benign
6	75138545	G	A	G75138545A	COL12A1	NM_004370.6(COL12A1):c.5133C>T:p.Phe1711=	coding	Benign
6	75142072	G	A	G75142072A	COL12A1	NM_004370.6(COL12A1):c.4917C>T:p.Asp1639=	coding	Benign
6	75142113	A	C	A75142113C	COL12A1	NM_004370.6(COL12A1):c.4876T>G:p.Ser1626Ala	coding	Benign
6	75143400	C	T	C75143400T	COL12A1	NM_004370.6(COL12A1):c.4691-12G>A	noncoding	Benign
6	75146240	T	C	T75146240C	COL12A1	NM_004370.6(COL12A1):c.4422A>G:p.Pro1474=	coding	Benign
6	75147757	T	C	T75147757C	COL12A1	NM_004370.6(COL12A1):c.4335A>G:p.Lys1445=	coding	Benign
6	75147792	G	A	G75147792A	COL12A1	NM_004370.6(COL12A1):c.4300C>T:p.Arg1434Ter	coding	Pathogenic
6	75148400	A	G	A75148400G	COL12A1	NM_004370.6(COL12A1):c.4245T>C:p.Tyr1415=	coding	Benign/Likely_benign
6	75148405	G	A	G75148405A	COL12A1	NM_004370.6(COL12A1):c.4240C>T:p.Arg1414Ter	coding	Pathogenic
6	75148459	G	T	G75148459T	COL12A1	NM_004370.6(COL12A1):c.4186C>A:p.Arg1396=	coding	Benign
6	75151297	C	T	C75151297T	COL12A1	NM_004370.6(COL12A1):c.4001-10G>A	noncoding	Benign
6	75152208	A	C	A75152208C	COL12A1	NM_004370.6(COL12A1):c.3758T>G:p.Leu1253Ter	coding	Pathogenic
6	75152397	G	A	G75152397A	COL12A1	NM_004370.6(COL12A1):c.3651C>T:p.Thr1217=	coding	Benign
6	75152418	G	A	G75152418A	COL12A1	NM_004370.6(COL12A1):c.3630C>T:p.Ile1210=	coding	Benign
6	75155795	G	A	G75155795A	COL12A1	NM_004370.6(COL12A1):c.3310C>T:p.Arg1104Ter	coding	Pathogenic
6	75165525	C	T	C75165525T	COL12A1	NM_004370.6(COL12A1):c.2965G>A:p.Gly989Arg	coding	Benign
6	75165718	A	G	A75165718G	COL12A1	NM_004370.6(COL12A1):c.2772T>C:p.Tyr924=	coding	Benign
6	75175267	C	T	C75175267T	COL12A1	NM_004370.6(COL12A1):c.2481G>A:p.Thr827=	coding	Benign
6	75177825	G	A	G75177825A	COL12A1	NM_004370.6(COL12A1):c.2275C>T:p.Pro759Ser	coding	Benign/Likely_benign
6	75181017	A	G	A75181017G	COL12A1	NM_004370.6(COL12A1):c.2086T>C:p.Leu696=	coding	Benign
6	75181096	C	T	C75181096T	COL12A1	NM_004370.6(COL12A1):c.2007G>A:p.Ala669=	coding	Benign
6	75181206	C	A	C75181206A	COL12A1	NM_004370.6(COL12A1):c.1897G>T:p.Val633Phe	coding	Benign
6	75181217	T	A	T75181217A	COL12A1	NM_004370.6(COL12A1):c.1892-6A>T	noncoding	Benign
6	75183390	T	C	T75183390C	COL12A1	NM_004370.6(COL12A1):c.1551A>G:p.Thr517=	coding	Benign
6	75183954	T	G	T75183954G	COL12A1	NM_004370.6(COL12A1):c.1188A>C:p.Ala396=	coding	Benign/Likely_benign
6	75188525	A	C	A75188525C	COL12A1	NM_004370.6(COL12A1):c.834T>G:p.Ala278=	coding	Benign
6	75189308	C	T	C75189308T	COL12A1	NM_004370.6(COL12A1):c.732G>A:p.Val244=	coding	Benign
6	75189584	T	G	T75189584G	COL12A1	NM_004370.6(COL12A1):c.626A>C:p.Lys209Thr	coding	Benign
6	75312455	G	A	G75312455A	FILIP1	NM_015687.5(FILIP1):c.3377C>T:p.Thr1126Met	coding	Benign
6	75312516	C	G	C75312516G	FILIP1	NM_015687.5(FILIP1):c.3316G>C:p.Gly1106Arg	coding	Benign
6	75312825	G	A	G75312825A	FILIP1	NM_015687.5(FILIP1):c.3007C>T:p.Pro1003Ser	coding	Benign
6	75313698	A	G	A75313698G	FILIP1	NM_015687.5(FILIP1):c.2134T>C:p.Leu712=	coding	Benign
6	75314349	T	C	T75314349C	FILIP1	NM_015687.5(FILIP1):c.1483A>G:p.Lys495Glu	coding	Benign
6	75314703	T	C	T75314703C	FILIP1	NM_015687.5(FILIP1):c.1129A>G:p.Met377Val	coding	Benign
6	75314909	G	A	G75314909A	FILIP1	NM_015687.5(FILIP1):c.923C>T:p.Ser308Leu	coding	Benign
6	75314995	T	C	T75314995C	FILIP1	NM_015687.5(FILIP1):c.837A>G:p.Glu279=	coding	Benign
6	75647788	G	T	G75647788T	SENP6	NM_015571.4(SENP6):c.537G>T:p.Arg179=	coding	Benign
6	75663286	G	A	G75663286A	SENP6	NM_015571.4(SENP6):c.762G>A:p.Thr254=	coding	Benign
6	75678807	A	T	A75678807T	SENP6	NM_015571.4(SENP6):c.1959-4A>T	noncoding	Benign
6	75832908	C	G	C75832908G	MYO6	NM_004999.4(MYO6):c.458C>G:p.Ser153Ter	coding	Pathogenic
6	75832925	G	A	G75832925A	MYO6	NM_004999.4(MYO6):c.475G>A:p.Glu159Lys	coding	Benign
6	75835967	T	C	T75835967C	MYO6	NM_004999.4(MYO6):c.553+11T>C	noncoding	Benign
6	75844906	C	T	C75844906T	MYO6	NM_004999.4(MYO6):c.826C>T:p.Arg276Ter	coding	Pathogenic
6	75844977	G	T	G75844977T	MYO6	NM_004999.4(MYO6):c.897G>T:p.Glu299Asp	coding	Pathogenic
6	75848478	C	T	C75848478T	MYO6	NM_004999.4(MYO6):c.1025C>T:p.Ala342Val	coding	Benign
6	75855180	T	C	T75855180C	MYO6	NM_004999.4(MYO6):c.1120T>C:p.Tyr374His	coding	Benign/Likely_benign
6	75855236	A	G	A75855236G	MYO6	NM_004999.4(MYO6):c.1176A>G:p.Thr392=	coding	Benign/Likely_benign
6	75855242	C	A	C75855242A	MYO6	NM_004999.4(MYO6):c.1182C>A:p.Val394=	coding	Benign
6	75857198	G	A	G75857198A	MYO6	NM_004999.4(MYO6):c.1325G>A:p.Cys442Tyr	coding	Pathogenic
6	75866573	C	T	C75866573T	MYO6	NM_004999.4(MYO6):c.1722C>T:p.Asp574=	coding	Benign/Likely_benign
6	75870677	C	T	C75870677T	MYO6	NM_004999.4(MYO6):c.1975C>T:p.Arg659Ter	coding	Pathogenic
6	75884246	T	G	T75884246G	MYO6	NM_004999.4(MYO6):c.2417-1758T>G	noncoding	Pathogenic
6	75885917	C	A	C75885917A	MYO6	NM_004999.4(MYO6):c.2417-87C>A	noncoding	Benign
6	75886881	C	T	C75886881T	MYO6	NM_004999.4(MYO6):c.2545C>T:p.Arg849Ter	coding	Pathogenic
6	75886971	G	A	G75886971A	MYO6	NM_004999.4(MYO6):c.2635G>A:p.Asp879Asn	coding	Benign/Likely_benign
6	75887011	C	T	C75887011T	MYO6	NM_004999.4(MYO6):c.2658+17C>T	noncoding	Benign
6	75887014	A	C	A75887014C	MYO6	NM_004999.4(MYO6):c.2658+20A>C	noncoding	Benign
6	75890115	C	A	C75890115A	MYO6	NM_004999.4(MYO6):c.2717C>A:p.Ser906Ter	coding	Pathogenic
6	75908518	C	T	C75908518T	MYO6	NM_004999.4(MYO6):c.3303C>T:p.Cys1101=	coding	Benign/Likely_benign
6	75914119	C	T	C75914119T	MYO6	NM_004999.4(MYO6):c.3496C>T:p.Arg1166Ter	coding	Pathogenic
6	75915024	C	T	C75915024T	MYO6	NM_004999.4(MYO6):c.*12C>T	noncoding	Benign
6	75915362	T	C	T75915362C	MYO6	NM_004999.4(MYO6):c.*350T>C	noncoding	Benign
6	75915471	A	G	A75915471G	MYO6	NM_004999.4(MYO6):c.*459A>G	noncoding	Benign
6	75916481	G	T	G75916481T	MYO6	NM_004999.4(MYO6):c.*1469G>T	noncoding	Benign/Likely_benign
6	75916715	C	T	C75916715T	MYO6	NM_004999.4(MYO6):c.*1703C>T	noncoding	Benign
6	75916974	A	G	A75916974G	MYO6	NM_004999.4(MYO6):c.*1962A>G	noncoding	Benign/Likely_benign
6	75917039	T	C	T75917039C	MYO6	NM_004999.4(MYO6):c.*2027T>C	noncoding	Benign
6	75917922	T	A	T75917922A	MYO6	NM_004999.4(MYO6):c.*2910T>A	noncoding	Benign/Likely_benign
6	75918308	G	T	G75918308T	MYO6	NM_004999.4(MYO6):c.*3296G>T	noncoding	Benign
6	75918459	A	C	A75918459C	MYO6	NM_004999.4(MYO6):c.*3447A>C	noncoding	Benign
6	75918521	G	A	G75918521A	MYO6	NM_004999.4(MYO6):c.*3509G>A	noncoding	Benign/Likely_benign
6	75918558	A	G	A75918558G	MYO6	NM_004999.4(MYO6):c.*3546A>G	noncoding	Benign/Likely_benign
6	75931072	C	T	C75931072T	IMPG1	NM_001563.4(IMPG1):c.2124G>A:p.Ala708=	coding	Benign
6	75947402	A	T	A75947402T	IMPG1	NM_001563.4(IMPG1):c.1956T>A:p.Ala652=	coding	Benign
6	75947413	G	A	G75947413A	IMPG1	NM_001563.4(IMPG1):c.1945C>T:p.Leu649Phe	coding	Benign
6	75950973	G	A	G75950973A	IMPG1	NM_001563.4(IMPG1):c.1413C>T:p.Asp471=	coding	Benign
6	75951101	A	C	A75951101C	IMPG1	NM_001563.4(IMPG1):c.1292-7T>G	noncoding	Benign
6	76002917	C	A	C76002917A	IMPG1	NM_001563.4(IMPG1):c.1291+1G>T	noncoding	Pathogenic/Likely_pathogenic
6	76018717	C	A	C76018717A	IMPG1	NM_001563.4(IMPG1):c.807+1G>T	noncoding	Pathogenic
6	76018717	C	G	C76018717G	IMPG1	NM_001563.4(IMPG1):c.807+1G>C	noncoding	Pathogenic
6	76018812	A	C	A76018812C	IMPG1	NM_001563.4(IMPG1):c.713T>G:p.Leu238Arg	coding	Pathogenic
6	76025216	A	C	A76025216C	IMPG1	NM_001563.4(IMPG1):c.540T>G:p.Gly180=	coding	Benign
6	76042021	C	T	C76042021T	IMPG1	NM_001563.4(IMPG1):c.173G>A:p.Arg58Lys	coding	Benign
6	78946229	G	A	G78946229A	PHIP	NM_017934.7(PHIP):c.4402C>T:p.Gln1468Ter	coding	Pathogenic
6	78958551	G	A	G78958551A	PHIP	NM_017934.7(PHIP):c.3706C>T:p.Arg1236Ter	coding	Pathogenic
6	78960448	T	A	T78960448A	PHIP	NM_017934.7(PHIP):c.3656+1242A>T	noncoding	Pathogenic
6	78961775	G	A	G78961775A	PHIP	NM_017934.7(PHIP):c.3571C>T:p.Gln1191Ter	coding	Pathogenic
6	78963185	A	C	A78963185C	PHIP	NM_017934.7(PHIP):c.3447T>G:p.Tyr1149Ter	coding	Pathogenic
6	79015099	G	A	G79015099A	PHIP	NM_017934.7(PHIP):c.1507C>T:p.Arg503Ter	coding	Pathogenic
6	79025518	C	T	C79025518T	PHIP	NM_017934.7(PHIP):c.923+1G>A	noncoding	Pathogenic
6	79026060	A	C	A79026060C	PHIP	NM_017934.7(PHIP):c.705T>G:p.Tyr235Ter	coding	Pathogenic
6	79042866	G	A	G79042866A	PHIP	NM_017934.7(PHIP):c.577C>T:p.Arg193Ter	coding	Pathogenic
6	79042879	A	G	A79042879G	PHIP	NM_017934.7(PHIP):c.564T>C:p.Cys188=	coding	Benign
6	79060680	G	T	G79060680T	PHIP	NM_017934.7(PHIP):c.328C>A:p.Arg110Ser	coding	Pathogenic
6	79078067	A	G	A79078067G	PHIP	NM_017934.7(PHIP):c.2T>C:p.Met1Thr	coding	Pathogenic
6	79485712	T	C	T79485712C	LCA5	NM_001122769.3(LCA5):c.*1292A>G	noncoding	Benign
6	79486781	T	C	T79486781C	LCA5	NM_001122769.3(LCA5):c.*223A>G	noncoding	Benign
6	79487131	C	T	C79487131T	LCA5	NM_001122769.3(LCA5):c.1967G>A:p.Gly656Asp	coding	Benign
6	79487313	A	T	A79487313T	LCA5	NM_001122769.3(LCA5):c.1785T>A:p.Ile595=	coding	Benign
6	79487422	G	T	G79487422T	LCA5	NM_001122769.3(LCA5):c.1676C>A:p.Ser559Ter	coding	Pathogenic
6	79487519	T	C	T79487519C	LCA5	NM_001122769.3(LCA5):c.1579A>G:p.Ile527Val	coding	Benign
6	79487612	C	A	C79487612A	LCA5	NM_001122769.3(LCA5):c.1486G>T:p.Glu496Ter	coding	Pathogenic
6	79487640	G	T	G79487640T	LCA5	NM_001122769.3(LCA5):c.1458C>A:p.Tyr486Ter	coding	Pathogenic
6	79487855	C	A	C79487855A	LCA5	NM_001122769.3(LCA5):c.1243G>T:p.Glu415Ter	coding	Pathogenic
6	79489129	C	A	C79489129A	LCA5	NM_001122769.3(LCA5):c.1186G>T:p.Glu396Ter	coding	Pathogenic
6	79489144	T	A	T79489144A	LCA5	NM_001122769.3(LCA5):c.1171A>T:p.Lys391Ter	coding	Pathogenic
6	79491624	G	C	G79491624C	LCA5	NM_001122769.3(LCA5):c.1062C>G:p.Tyr354Ter	coding	Pathogenic
6	79492551	C	T	C79492551T	LCA5	NM_001122769.3(LCA5):c.955G>A:p.Ala319Thr	coding	Pathogenic
6	79492635	C	A	C79492635A	LCA5	NM_001122769.3(LCA5):c.871G>T:p.Glu291Ter	coding	Pathogenic
6	79493612	C	G	C79493612G	LCA5	NM_001122769.3(LCA5):c.858+1G>C	noncoding	Pathogenic
6	79493633	G	A	G79493633A	LCA5	NM_001122769.3(LCA5):c.838C>T:p.Arg280Ter	coding	Pathogenic
6	79493636	G	A	G79493636A	LCA5	NM_001122769.3(LCA5):c.835C>T:p.Gln279Ter	coding	Pathogenic
6	79493676	A	C	A79493676C	LCA5	NM_001122769.3(LCA5):c.795T>G:p.Tyr265Ter	coding	Pathogenic
6	79493708	G	A	G79493708A	LCA5	NM_001122769.3(LCA5):c.763C>T:p.Arg255Ter	coding	Pathogenic
6	79513290	G	A	G79513290A	LCA5	NM_001122769.3(LCA5):c.642C>T:p.His214=	coding	Benign
6	79513322	G	A	G79513322A	LCA5	NM_001122769.3(LCA5):c.610C>T:p.Gln204Ter	coding	Pathogenic
6	79513694	G	A	G79513694A	LCA5	NM_001122769.3(LCA5):c.238C>T:p.Arg80Ter	coding	Pathogenic
6	79513710	T	A	T79513710A	LCA5	NM_001122769.3(LCA5):c.222A>T:p.Pro74=	coding	Benign
6	79513735	C	T	C79513735T	LCA5	NM_001122769.3(LCA5):c.197G>A:p.Arg66Gln	coding	Benign
6	79518753	T	A	T79518753A	LCA5	NM_001122769.3(LCA5):c.142A>T:p.Arg48Ter	coding	Pathogenic
6	79518792	G	A	G79518792A	LCA5	NM_001122769.3(LCA5):c.103C>T:p.Arg35Ter	coding	Pathogenic
6	79518818	T	G	T79518818G	LCA5	NM_001122769.3(LCA5):c.77A>C:p.Asp26Ala	coding	Benign
6	79518824	A	G	A79518824G	LCA5	NM_001122769.3(LCA5):c.71T>C:p.Leu24Ser	coding	Benign
6	79518956	T	C	T79518956C	LCA5	NM_001122769.3(LCA5):c.-62A>G	noncoding	Benign
6	79537307	G	A	G79537307A	LCA5	NM_001122769.3(LCA5):c.-334C>T	noncoding	Benign
6	79914813	A	T	A79914813T	ELOVL4	NM_022726.3(ELOVL4):c.*1795T>A	noncoding	Benign
6	79914939	A	C	A79914939C	ELOVL4	NM_022726.4(ELOVL4):c.*1669T>G	noncoding	Benign
6	79915057	T	C	T79915057C	ELOVL4	NM_022726.4(ELOVL4):c.*1551A>G	noncoding	Benign
6	79915542	A	C	A79915542C	ELOVL4	NM_022726.4(ELOVL4):c.*1066T>G	noncoding	Benign
6	79915558	T	C	T79915558C	ELOVL4	NM_022726.4(ELOVL4):c.*1050A>G	noncoding	Benign
6	79915941	A	G	A79915941G	ELOVL4	NM_022726.4(ELOVL4):c.*667T>C	noncoding	Benign
6	79915999	C	T	C79915999T	ELOVL4	NM_022726.4(ELOVL4):c.*609G>A	noncoding	Benign
6	79916099	G	A	G79916099A	ELOVL4	NM_022726.4(ELOVL4):c.*509C>T	noncoding	Benign
6	79916231	A	T	A79916231T	ELOVL4	NM_022726.4(ELOVL4):c.*377T>A	noncoding	Benign
6	79916247	G	A	G79916247A	ELOVL4	NM_022726.4(ELOVL4):c.*361C>T	noncoding	Benign
6	79916248	T	C	T79916248C	ELOVL4	NM_022726.4(ELOVL4):c.*360A>G	noncoding	Benign
6	79916466	C	G	C79916466G	ELOVL4	NM_022726.4(ELOVL4):c.*142G>C	noncoding	Benign
6	79916600	A	G	A79916600G	ELOVL4	NM_022726.4(ELOVL4):c.*8T>C	noncoding	Benign
6	79916658	T	C	T79916658C	ELOVL4	NM_022726.4(ELOVL4):c.895A>G:p.Met299Val	coding	Benign
6	79916739	C	G	C79916739G	ELOVL4	NM_022726.4(ELOVL4):c.814G>C:p.Glu272Gln	coding	Benign/Likely_benign
6	79916743	G	C	G79916743C	ELOVL4	NM_022726.4(ELOVL4):c.810C>G:p.Tyr270Ter	coding	Pathogenic
6	79916753	A	G	A79916753G	ELOVL4	NM_022726.4(ELOVL4):c.800T>C:p.Ile267Thr	coding	Benign
6	79916854	C	T	C79916854T	ELOVL4	NM_022726.4(ELOVL4):c.699G>A:p.Thr233=	coding	Benign/Likely_benign
6	79916884	C	T	C79916884T	ELOVL4	NM_022726.4(ELOVL4):c.670-1G>A	coding	Pathogenic
6	79919265	A	T	A79919265T	ELOVL4	NM_022726.4(ELOVL4):c.669+155T>A	noncoding	Benign
6	79921660	C	T	C79921660T	ELOVL4	NM_022726.4(ELOVL4):c.506G>A:p.Trp169Ter	coding	Pathogenic
6	79921662	C	G	C79921662G	ELOVL4	NM_022726.4(ELOVL4):c.504G>C:p.Leu168Phe	coding	Pathogenic
6	79924805	A	G	A79924805G	ELOVL4	NM_022726.4(ELOVL4):c.369+147T>C	noncoding	Benign
6	79924896	G	A	G79924896A	ELOVL4	NM_022726.4(ELOVL4):c.369+56C>T	noncoding	Benign
6	79926005	C	T	C79926005T	ELOVL4	NM_022726.4(ELOVL4):c.288+189G>A	noncoding	Benign
6	79926385	T	C	T79926385C	ELOVL4	NM_022726.4(ELOVL4):c.101-4A>G	noncoding	Benign
6	79947369	C	G	C79947369G	ELOVL4	NM_022726.4(ELOVL4):c.-90G>C	noncoding	Benign
6	79947377	G	A	G79947377A	ELOVL4	NM_022726.4(ELOVL4):c.-98C>T	noncoding	Benign
6	79947515	G	A	G79947515A	ELOVL4	NM_022726.4(ELOVL4):c.-236C>T	noncoding	Benign
6	79947547	A	C	A79947547C	ELOVL4	NM_022726.4(ELOVL4):c.-268T>G	noncoding	Benign
6	80022445	G	A	G80022445A	TTK	NM_003318.5(TTK):c.1230G>A:p.Pro410=	coding	Benign
6	80040289	T	A	T80040289A	TTK	NM_003318.5(TTK):c.2392+9T>A	noncoding	Benign
6	80040680	A	C	A80040680C	TTK	NM_003318.5(TTK):c.2467A>C:p.Asn823His	coding	Benign
6	80106696	G	A	G80106696A	BCKDHB	NM_183050.4(BCKDHB):c.3G>A:p.Met1Ile	coding	Pathogenic
6	80106756	G	T	G80106756T	BCKDHB	NM_183050.4(BCKDHB):c.63G>T:p.Gly21=	coding	Benign/Likely_benign
6	80106815	C	T	C80106815T	BCKDHB	NM_183050.4(BCKDHB):c.122C>T:p.Thr41Ile	coding	Benign
6	80127341	A	G	A80127341G	BCKDHB	NM_183050.4(BCKDHB):c.197-206A>G	noncoding	Benign
6	80127517	A	C	A80127517C	BCKDHB	NM_183050.4(BCKDHB):c.197-30A>C	noncoding	Benign
6	80127522	A	G	A80127522G	BCKDHB	NM_183050.4(BCKDHB):c.197-25A>G	noncoding	Benign
6	80127536	G	T	G80127536T	BCKDHB	NM_183050.4(BCKDHB):c.197-11G>T	noncoding	Benign
6	80127545	A	G	A80127545G	BCKDHB	NM_183050.4(BCKDHB):c.197-2A>G	noncoding	Pathogenic
6	80129159	A	G	A80129159G	BCKDHB	NM_183050.4(BCKDHB):c.275-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	80129217	C	T	C80129217T	BCKDHB	NM_183050.4(BCKDHB):c.331C>T:p.Arg111Ter	coding	Pathogenic
6	80129228	T	G	T80129228G	BCKDHB	NM_183050.4(BCKDHB):c.342T>G:p.Tyr114Ter	coding	Pathogenic/Likely_pathogenic
6	80167654	C	T	C80167654T	BCKDHB	NM_183050.4(BCKDHB):c.344-24C>T	noncoding	Benign/Likely_benign
6	80167677	G	A	G80167677A	BCKDHB	NM_183050.4(BCKDHB):c.344-1G>A	noncoding	Pathogenic
6	80167690	T	G	T80167690G	BCKDHB	NM_183050.4(BCKDHB):c.356T>G:p.Val119Gly	coding	Pathogenic
6	80167735	T	A	T80167735A	BCKDHB	NM_183050.4(BCKDHB):c.401T>A:p.Ile134Asn	coding	Pathogenic
6	80167737	G	A	G80167737A	BCKDHB	NM_183050.4(BCKDHB):c.403G>A:p.Gly135Arg	coding	Pathogenic/Likely_pathogenic
6	80167744	C	T	C80167744T	BCKDHB	NM_183050.4(BCKDHB):c.410C>T:p.Ala137Val	coding	Pathogenic/Likely_pathogenic
6	80167781	T	C	T80167781C	BCKDHB	NM_183050.4(BCKDHB):c.447T>C:p.Phe149=	coding	Benign/Likely_benign
6	80168884	G	T	G80168884T	BCKDHB	NM_183050.4(BCKDHB):c.487G>T:p.Glu163Ter	coding	Pathogenic
6	80168885	A	T	A80168885T	BCKDHB	NM_183050.4(BCKDHB):c.488A>T:p.Glu163Val	coding	Pathogenic
6	80168893	A	T	A80168893T	BCKDHB	NM_183050.4(BCKDHB):c.496A>T:p.Lys166Ter	coding	Pathogenic
6	80168900	G	A	G80168900A	BCKDHB	NM_183050.4(BCKDHB):c.503G>A:p.Arg168His	coding	Pathogenic
6	80168923	A	T	A80168923T	BCKDHB	NM_183050.4(BCKDHB):c.526A>T:p.Asn176Tyr	coding	Pathogenic/Likely_pathogenic
6	80168945	G	C	G80168945C	BCKDHB	NM_183050.4(BCKDHB):c.548G>C:p.Arg183Pro	coding	Pathogenic/Likely_pathogenic
6	80168951	C	T	C80168951T	BCKDHB	NM_183050.4(BCKDHB):c.554C>T:p.Pro185Leu	coding	Pathogenic
6	80168961	T	A	T80168961A	BCKDHB	NM_183050.4(BCKDHB):c.564T>A:p.Cys188Ter	coding	Pathogenic
6	80169013	C	T	C80169013T	BCKDHB	NM_183050.4(BCKDHB):c.616C>T:p.His206Tyr	coding	Pathogenic
6	80169031	G	A	G80169031A	BCKDHB	NM_183050.4(BCKDHB):c.633+1G>A	coding	Pathogenic
6	80171306	C	T	C80171306T	BCKDHB	NM_183050.4(BCKDHB):c.658C>T:p.Gln220Ter	coding	Pathogenic
6	80171397	A	T	A80171397T	BCKDHB	NM_183050.4(BCKDHB):c.742+7A>T	noncoding	Benign/Likely_benign
6	80171572	C	G	C80171572G	BCKDHB	NM_183050.4(BCKDHB):c.742+182C>G	noncoding	Benign
6	80200936	G	T	G80200936T	BCKDHB	NM_183050.4(BCKDHB):c.745G>T:p.Glu249Ter	coding	Pathogenic
6	80200939	G	T	G80200939T	BCKDHB	NM_183050.4(BCKDHB):c.748G>T:p.Glu250Ter	coding	Pathogenic
6	80200943	T	C	T80200943C	BCKDHB	NM_183050.4(BCKDHB):c.752T>C:p.Val251Ala	coding	Pathogenic/Likely_pathogenic
6	80200990	C	T	C80200990T	BCKDHB	NM_183050.4(BCKDHB):c.799C>T:p.Gln267Ter	coding	Pathogenic/Likely_pathogenic
6	80201023	G	A	G80201023A	BCKDHB	NM_183050.4(BCKDHB):c.832G>A:p.Gly278Ser	coding	Pathogenic/Likely_pathogenic
6	80201032	G	T	G80201032T	BCKDHB	NM_183050.4(BCKDHB):c.840+1G>T	coding	Pathogenic
6	80201033	T	G	T80201033G	BCKDHB	NM_183050.4(BCKDHB):c.840+2T>G	noncoding	Pathogenic/Likely_pathogenic
6	80203029	C	T	C80203029T	BCKDHB	NM_183050.4(BCKDHB):c.841-73C>T	noncoding	Benign
6	80203114	C	T	C80203114T	BCKDHB	NM_183050.4(BCKDHB):c.853C>T:p.Arg285Ter	coding	Pathogenic/Likely_pathogenic
6	80203260	C	T	C80203260T	BCKDHB	NM_183050.4(BCKDHB):c.951+48C>T	noncoding	Benign/Likely_benign
6	80203499	A	G	A80203499G	BCKDHB	NM_183050.4(BCKDHB):c.951+287A>G	noncoding	Benign
6	80273134	G	A	G80273134A	BCKDHB	NM_183050.4(BCKDHB):c.952-1G>A	noncoding	Pathogenic
6	80273147	A	G	A80273147G	BCKDHB	NM_183050.4(BCKDHB):c.964A>G:p.Thr322Ala	coding	Pathogenic
6	80273153	C	T	C80273153T	BCKDHB	NM_183050.4(BCKDHB):c.970C>T:p.Arg324Ter	coding	Pathogenic/Likely_pathogenic
6	80273170	C	T	C80273170T	BCKDHB	NM_183050.4(BCKDHB):c.987C>T:p.His329=	coding	Benign/Likely_benign
6	80273171	G	A	G80273171A	BCKDHB	NM_183050.4(BCKDHB):c.988G>A:p.Glu330Lys	coding	Pathogenic/Likely_pathogenic
6	80273189	G	A	G80273189A	BCKDHB	NM_183050.4(BCKDHB):c.1006G>A:p.Gly336Ser	coding	Pathogenic/Likely_pathogenic
6	80273199	C	T	C80273199T	BCKDHB	NM_183050.4(BCKDHB):c.1016C>T:p.Ser339Leu	coding	Pathogenic
6	80273205	T	A	T80273205A	BCKDHB	NM_183050.4(BCKDHB):c.1022T>A:p.Ile341Asn	coding	Pathogenic/Likely_pathogenic
6	80343390	G	A	G80343390A	BCKDHB	NM_183050.4(BCKDHB):c.1039-274G>A	noncoding	Benign
6	80343500	G	T	G80343500T	BCKDHB	NM_183050.4(BCKDHB):c.1039-164G>T	noncoding	Benign
6	80343739	G	T	G80343739T	BCKDHB	NM_183050.4(BCKDHB):c.1114G>T:p.Glu372Ter	coding	Pathogenic/Likely_pathogenic
6	80343774	T	A	T80343774A	BCKDHB	NM_183050.4(BCKDHB):c.1149T>A:p.Tyr383Ter	coding	Pathogenic/Likely_pathogenic
6	80343925	G	A	G80343925A	BCKDHB	NM_183050.4(BCKDHB):c.*121G>A	noncoding	Benign
6	80344636	C	T	C80344636T	BCKDHB	NM_183050.4(BCKDHB):c.*832C>T	noncoding	Benign
6	80344798	G	A	G80344798A	BCKDHB	NM_183050.4(BCKDHB):c.*994G>A	noncoding	Benign
6	80344946	C	G	C80344946G	BCKDHB	NM_183050.4(BCKDHB):c.*1142C>G	noncoding	Benign
6	80344962	T	G	T80344962G	BCKDHB	NM_183050.4(BCKDHB):c.*1158T>G	noncoding	Benign
6	80345045	A	G	A80345045G	BCKDHB	NM_183050.4(BCKDHB):c.*1241A>G	noncoding	Benign
6	80345248	T	C	T80345248C	BCKDHB	NM_183050.4(BCKDHB):c.*1444T>C	noncoding	Benign
6	80345582	A	G	A80345582G	BCKDHB	NM_183050.4(BCKDHB):c.*1778A>G	noncoding	Benign
6	80345614	T	C	T80345614C	BCKDHB	NM_183050.4(BCKDHB):c.*1810T>C	noncoding	Benign
6	80345679	G	A	G80345679A	BCKDHB	NM_183050.4(BCKDHB):c.*1875G>A	noncoding	Benign
6	80345696	T	C	T80345696C	BCKDHB	NM_183050.4(BCKDHB):c.*1892T>C	noncoding	Benign
6	80346075	G	A	G80346075A	BCKDHB	NM_183050.4(BCKDHB):c.*2271G>A	noncoding	Benign
6	80346086	C	T	C80346086T	BCKDHB	NM_183050.4(BCKDHB):c.*2282C>T	noncoding	Benign
6	81749788	T	C	T81749788C	TENT5A	NM_017633.3(TENT5A):c.1236A>G:p.Ala412=	coding	Benign
6	81750332	T	C	T81750332C	TENT5A	NM_017633.3(TENT5A):c.692A>G:p.Asp231Gly	coding	Pathogenic
6	81751762	T	C	T81751762C	TENT5A	NM_017633.3(TENT5A):c.380A>G:p.His127Arg	coding	Pathogenic
6	81751776	G	A	G81751776A	TENT5A	NM_017633.3(TENT5A):c.366C>T:p.Gly122=	coding	Benign
6	81751807	C	A	C81751807A	TENT5A	NM_017633.3(TENT5A):c.335G>T:p.Arg112Leu	coding	Benign
6	81752068	C	T	C81752068T	TENT5A	NM_017633.3(TENT5A):c.74G>A:p.Gly25Asp	coding	Benign
6	82191797	A	T	A82191797T	IBTK	NM_015525.4(IBTK):c.3421T>A:p.Ser1141Thr	coding	Benign
6	82191889	A	G	A82191889G	IBTK	NM_015525.4(IBTK):c.3339-10T>C	noncoding	Benign
6	83170340	C	A	C83170340A	PGM3	NM_015599.3(PGM3):c.1504G>T:p.Asp502Tyr	coding	Pathogenic
6	83170343	C	G	C83170343G	PGM3	NM_015599.3(PGM3):c.1501G>C:p.Glu501Gln	coding	Pathogenic
6	83170370	G	A	G83170370A	PGM3	NM_015599.3(PGM3):c.1474C>T:p.Arg492Ter	coding	Pathogenic/Likely_pathogenic
6	83170377	C	T	C83170377T	PGM3	NM_015599.3(PGM3):c.1467G>A:p.Lys489=	coding	Benign
6	83170380	G	A	G83170380A	PGM3	NM_015599.3(PGM3):c.1464C>T:p.Tyr488=	coding	Benign
6	83170448	C	T	C83170448T	PGM3	NM_015599.3(PGM3):c.1396G>A:p.Asp466Asn	coding	Benign
6	83171950	T	C	T83171950C	PGM3	NM_015599.3(PGM3):c.1352A>G:p.Gln451Arg	coding	Pathogenic
6	83172021	T	C	T83172021C	PGM3	NM_015599.3(PGM3):c.1281A>G:p.Glu427=	coding	Benign
6	83176005	T	A	T83176005A	PGM3	NM_015599.3(PGM3):c.1085A>T:p.Glu362Val	coding	Benign
6	83179864	A	C	A83179864C	PGM3	NM_015599.3(PGM3):c.891T>G:p.Asp297Glu	coding	Pathogenic
6	83181786	T	C	T83181786C	PGM3	NM_015599.3(PGM3):c.737A>G:p.Asn246Ser	coding	Pathogenic
6	83181808	C	G	C83181808G	PGM3	NM_015599.3(PGM3):c.715G>C:p.Asp239His	coding	Pathogenic
6	83182916	G	A	G83182916A	PGM3	NM_015599.3(PGM3):c.520C>T:p.Arg174Ter	coding	Pathogenic
6	83188654	G	T	G83188654T	PGM3	NM_015599.3(PGM3):c.349C>A:p.Leu117Met	coding	Benign
6	83188755	A	G	A83188755G	PGM3	NM_015599.3(PGM3):c.248T>C:p.Leu83Ser	coding	Pathogenic
6	83190963	T	C	T83190963C	PGM3	NM_015599.3(PGM3):c.50A>G:p.Asn17Ser	coding	Benign
6	83190980	T	C	T83190980C	PGM3	NM_015599.3(PGM3):c.33A>G:p.Ala11=	coding	Benign
6	83191204	A	T	A83191204T	PGM3	NM_015599.3(PGM3):c.-2-190T>A	coding	Benign
6	83223772	G	A	G83223772A	ME1	NM_002395.6(ME1):c.1437C>T:p.Leu479=	coding	Benign
6	83523633	C	A	C83523633A	PRSS35	NM_153362.3(PRSS35):c.192C>A:p.Ile64=	coding	Benign
6	83524266	T	C	T83524266C	PRSS35	NM_153362.3(PRSS35):c.825T>C:p.Tyr275=	coding	Benign
6	83524455	C	T	C83524455T	PRSS35	NM_153362.3(PRSS35):c.1014C>T:p.Tyr338=	coding	Benign
6	83560882	A	G	A83560882G	SNAP91	NM_001242792.1(SNAP91):c.2508T>C:p.Pro836=	coding	Benign
6	83560894	C	T	C83560894T	SNAP91	NM_001242792.1(SNAP91):c.2496G>A:p.Ser832=	coding	Benign
6	83582258	G	A	G83582258A	SNAP91	NM_001242792.1(SNAP91):c.2113C>T:p.Pro705Ser	coding	Benign
6	83582313	A	C	A83582313C	SNAP91	NM_001242792.1(SNAP91):c.2058T>G:p.Thr686=	coding	Benign
6	83593728	C	T	C83593728T	SNAP91	NM_001242792.1(SNAP91):c.1446G>A:p.Pro482=	coding	Benign
6	83601441	A	G	A83601441G	SNAP91	NM_001242792.1(SNAP91):c.1157-3T>C	noncoding	Benign
6	83601605	G	C	G83601605C	SNAP91	NM_001242792.1(SNAP91):c.1142-6C>G	noncoding	Benign
6	83659050	T	C	T83659050C	SNAP91	NM_001242792.1(SNAP91):c.495A>G:p.Leu165=	coding	Benign
6	83707910	G	C	G83707910C	SNAP91	NM_001242792.1(SNAP91):c.18C>G:p.Leu6=	coding	Benign
6	83853728	C	G	C83853728G	RIPPLY2	NM_001009994.2(RIPPLY2):c.129C>G:p.Ala43=	coding	Benign
6	83853749	G	A	G83853749A	RIPPLY2	NM_001009994.2(RIPPLY2):c.150G>A:p.Glu50=	coding	Benign
6	83924577	C	G	C83924577G	CYB5R4	NM_016230.4(CYB5R4):c.799C>G:p.Pro267Ala	coding	Benign
6	84155364	C	A	C84155364A	CEP162	NM_014895.4(CEP162):c.2928G>T:p.Leu976=	coding	Benign
6	84736939	G	A	G84736939A	TBX18	NM_001080508.3(TBX18):c.1570C>T:p.His524Tyr	coding	Pathogenic
6	84737039	C	T	C84737039T	TBX18	NM_001080508.3(TBX18):c.1470G>A:p.Ser490=	coding	Benign
6	84747991	C	T	C84747991T	TBX18	NM_001080508.3(TBX18):c.868G>A:p.Gly290Arg	coding	Benign
6	84756719	A	G	A84756719G	TBX18	NM_001080508.3(TBX18):c.750T>C:p.Asn250=	coding	Benign
6	84762549	G	A	G84762549A	TBX18	NM_001080508.3(TBX18):c.492C>T:p.Ala164=	coding	Benign
6	84762554	T	C	T84762554C	TBX18	NM_001080508.3(TBX18):c.487A>G:p.Lys163Glu	coding	Pathogenic
6	84762705	C	A	C84762705A	TBX18	NM_001080508.3(TBX18):c.336G>T:p.Ala112=	coding	Benign
6	84764040	C	T	C84764040T	TBX18	NM_001080508.3(TBX18):c.142G>A:p.Gly48Arg	coding	Benign
6	84764054	G	A	G84764054A	TBX18	NM_001080508.3(TBX18):c.128C>T:p.Ala43Val	coding	Benign
6	85450181	C	T	C85450181T	NT5E	NM_002526.4(NT5E):c.42C>T:p.Leu14=	coding	Benign
6	85467062	A	G	A85467062G	NT5E	NM_002526.4(NT5E):c.342A>G:p.Ala114=	coding	Benign
6	85467177	C	G	C85467177G	NT5E	NM_002526.4(NT5E):c.457C>G:p.Gln153Glu	coding	Benign
6	85467248	C	T	C85467248T	NT5E	NM_002526.4(NT5E):c.528C>T:p.Tyr176=	coding	Benign
6	85471336	C	A	C85471336A	NT5E	NM_002526.4(NT5E):c.662C>A:p.Ser221Ter	coding	Pathogenic
6	85485380	C	T	C85485380T	NT5E	NM_002526.4(NT5E):c.897C>T:p.Asn299=	coding	Benign
6	85487458	G	A	G85487458A	NT5E	NM_002526.4(NT5E):c.1073G>A:p.Cys358Tyr	coding	Pathogenic
6	85490518	C	G	C85490518G	NT5E	NM_002526.4(NT5E):c.1221C>G:p.Thr407=	coding	Benign
6	85493867	A	G	A85493867G	NT5E	NM_002526.4(NT5E):c.1588A>G:p.Thr530Ala	coding	Benign
6	85513857	G	A	G85513857A	SNX14	NM_153816.6(SNX14):c.2596C>T:p.Gln866Ter	coding	Pathogenic
6	85514095	C	T	C85514095T	SNX14	NM_153816.6(SNX14):c.2532G>A:p.Leu844=	coding	Benign
6	85530191	C	A	C85530191A	SNX14	NM_153816.6(SNX14):c.1894+1G>T	noncoding	Pathogenic
6	85536791	C	A	C85536791A	SNX14	NM_153816.6(SNX14):c.1608+1G>T	noncoding	Pathogenic
6	85543630	G	A	G85543630A	SNX14	NM_153816.6(SNX14):c.1239C>T:p.Pro413=	coding	Benign
6	85543679	T	C	T85543679C	SNX14	NM_153816.6(SNX14):c.1190A>G:p.Tyr397Cys	coding	Benign
6	85543737	G	A	G85543737A	SNX14	NM_153816.6(SNX14):c.1132C>T:p.Arg378Ter	coding	Pathogenic
6	85547112	C	A	C85547112A	SNX14	NM_153816.6(SNX14):c.1108G>T:p.Glu370Ter	coding	Pathogenic
6	85547112	C	T	C85547112T	SNX14	NM_153816.6(SNX14):c.1108G>A:p.Glu370Lys	coding	Pathogenic
6	85547211	A	G	A85547211G	SNX14	NM_153816.6(SNX14):c.1009T>C:p.Leu337=	coding	Benign
6	85547231	A	T	A85547231T	SNX14	NM_153816.6(SNX14):c.994-5T>A	noncoding	Benign
6	85565365	A	G	A85565365G	SNX14	NM_153816.6(SNX14):c.516T>C:p.Phe172=	coding	Benign
6	85567567	A	T	A85567567T	SNX14	NM_153816.6(SNX14):c.428T>A:p.Leu143Ter	coding	Pathogenic
6	85572305	G	A	G85572305A	SNX14	NM_153816.6(SNX14):c.331C>T:p.Arg111Ter	coding	Pathogenic
6	85572372	C	A	C85572372A	SNX14	NM_153816.6(SNX14):c.264G>T:p.Gln88His	coding	Benign
6	87015904	G	A	G87015904A	HTR1E	NM_000865.3(HTR1E):c.570G>A:p.Ala190=	coding	Benign
6	87085839	G	A	G87085839A	CGA	NM_000735.4(CGA):c.274-6C>T	noncoding	Benign
6	87086295	G	A	G87086295A	CGA	NM_000735.4(CGA):c.228C>T:p.Asn76=	coding	Benign
6	87254856	G	A	G87254856A	ZNF292	NM_015021.3(ZNF292):c.1227G>A:p.Leu409=	coding	Benign
6	87255128	G	T	G87255128T	ZNF292	NM_015021.3(ZNF292):c.1499G>T:p.Gly500Val	coding	Benign
6	87255801	C	T	C87255801T	ZNF292	NM_015021.3(ZNF292):c.2172C>T:p.Cys724=	coding	Benign
6	87256319	C	T	C87256319T	ZNF292	NM_015021.3(ZNF292):c.2690C>T:p.Ser897Leu	coding	Benign
6	87256606	G	A	G87256606A	ZNF292	NM_015021.3(ZNF292):c.2977G>A:p.Asp993Asn	coding	Benign
6	87258353	T	C	T87258353C	ZNF292	NM_015021.3(ZNF292):c.4724T>C:p.Leu1575Ser	coding	Benign
6	87258526	A	T	A87258526T	ZNF292	NM_015021.3(ZNF292):c.4897A>T:p.Lys1633Ter	coding	Pathogenic
6	87258547	G	C	G87258547C	ZNF292	NM_015021.3(ZNF292):c.4918G>C:p.Ala1640Pro	coding	Benign
6	87258555	C	T	C87258555T	ZNF292	NM_015021.3(ZNF292):c.4926C>T:p.Asn1642=	coding	Benign
6	87258571	G	A	G87258571A	ZNF292	NM_015021.3(ZNF292):c.4942G>A:p.Val1648Ile	coding	Benign
6	87258576	A	C	A87258576C	ZNF292	NM_015021.3(ZNF292):c.4947A>C:p.Thr1649=	coding	Benign
6	87259002	T	C	T87259002C	ZNF292	NM_015021.3(ZNF292):c.5373T>C:p.Tyr1791=	coding	Benign
6	87259452	A	G	A87259452G	ZNF292	NM_015021.3(ZNF292):c.5823A>G:p.Gln1941=	coding	Benign
6	87259467	C	T	C87259467T	ZNF292	NM_015021.3(ZNF292):c.5838C>T:p.Pro1946=	coding	Benign
6	87260580	G	A	G87260580A	ZNF292	NM_015021.3(ZNF292):c.6951G>A:p.Gly2317=	coding	Benign
6	87260915	G	A	G87260915A	ZNF292	NM_015021.3(ZNF292):c.7286G>A:p.Arg2429Gln	coding	Benign
6	87284664	C	T	C87284664T	GJB7	NM_198568.3(GJB7):c.249G>A:p.Met83Ile	coding	Benign
6	87472986	G	C	G87472986C	SLC35A1	NM_006416.5(SLC35A1):c.-18G>C	noncoding	Benign
6	87477364	A	C	A87477364C	SLC35A1	NM_006416.5(SLC35A1):c.19A>C:p.Asn7His	coding	Benign/Likely_benign
6	87500616	G	C	G87500616C	SLC35A1	NM_006416.5(SLC35A1):c.303G>C:p.Gln101His	coding	Pathogenic
6	87501270	C	G	C87501270G	SLC35A1	NM_006416.5(SLC35A1):c.467C>G:p.Thr156Arg	coding	Pathogenic/Likely_pathogenic
6	87508431	G	A	G87508431A	SLC35A1	NM_006416.5(SLC35A1):c.586G>A:p.Glu196Lys	coding	Pathogenic/Likely_pathogenic
6	87511385	T	C	T87511385C	SLC35A1;RARS2	NM_006416.5(SLC35A1):c.887-14T>C	noncoding	Benign/Likely_benign
6	87511828	A	G	A87511828G	SLC35A1;RARS2	NM_006416.5(SLC35A1):c.*302A>G	noncoding	Benign
6	87512174	T	G	T87512174G	SLC35A1;RARS2	NM_006416.5(SLC35A1):c.*648T>G	noncoding	Benign
6	87514446	T	C	T87514446C	SLC35A1;RARS2	NM_020320.5(RARS2):c.1704A>G:p.Lys568=	coding	Benign/Likely_benign
6	87516923	A	G	A87516923G	RARS2	NM_020320.5(RARS2):c.1512-43T>C	noncoding	Benign
6	87518257	C	A	C87518257A	RARS2	NM_020320.5(RARS2):c.1423G>T:p.Glu475Ter	coding	Pathogenic
6	87518635	G	T	G87518635T	RARS2	NM_020320.5(RARS2):c.1410C>A:p.Leu470=	coding	Benign/Likely_benign
6	87518806	G	A	G87518806A	RARS2	NM_020320.5(RARS2):c.1305+18C>T	noncoding	Benign
6	87518823	C	T	C87518823T	RARS2	NM_020320.5(RARS2):c.1305+1G>A	noncoding	Pathogenic
6	87519545	C	T	C87519545T	RARS2	NM_020320.5(RARS2):c.1237+38G>A	noncoding	Benign
6	87519582	C	T	C87519582T	RARS2	NM_020320.5(RARS2):c.1237+1G>A	noncoding	Pathogenic
6	87519584	C	G	C87519584G	RARS2	NM_020320.5(RARS2):c.1236G>C:p.Lys412Asn	coding	Benign
6	87519664	G	A	G87519664A	RARS2	NM_020320.5(RARS2):c.1156C>T:p.Arg386Ter	coding	Pathogenic
6	87521475	T	C	T87521475C	RARS2	NM_020320.5(RARS2):c.1024A>G:p.Met342Val	coding	Pathogenic
6	87521508	T	C	T87521508C	RARS2	NM_020320.5(RARS2):c.991A>G:p.Ile331Val	coding	Benign
6	87521567	C	T	C87521567T	RARS2	NM_020320.5(RARS2):c.975-43G>A	noncoding	Benign
6	87524467	A	G	A87524467G	RARS2	NM_020320.5(RARS2):c.974+90T>C	noncoding	Benign
6	87524588	G	A	G87524588A	RARS2	NM_020320.5(RARS2):c.943C>T:p.Arg315Ter	coding	Pathogenic/Likely_pathogenic
6	87524658	A	G	A87524658G	RARS2	NM_020320.5(RARS2):c.879-6T>C	noncoding	Benign
6	87529523	A	C	A87529523C	RARS2	NM_020320.5(RARS2):c.878+19T>G	noncoding	Benign
6	87529525	T	C	T87529525C	RARS2	NM_020320.5(RARS2):c.878+17A>G	noncoding	Benign
6	87529548	T	C	T87529548C	RARS2	NM_020320.5(RARS2):c.872A>G:p.Lys291Arg	coding	Benign
6	87529581	A	C	A87529581C	RARS2	NM_020320.5(RARS2):c.839T>G:p.Leu280Ter	coding	Pathogenic
6	87529611	G	T	G87529611T	RARS2	NM_020320.5(RARS2):c.809C>A:p.Ser270Ter	coding	Pathogenic
6	87530829	T	C	T87530829C	RARS2	NM_020320.5(RARS2):c.726A>G:p.Gln242=	coding	Benign/Likely_benign
6	87530852	C	T	C87530852T	RARS2	NM_020320.5(RARS2):c.703G>A:p.Val235Met	coding	Benign
6	87530870	G	A	G87530870A	RARS2	NM_020320.5(RARS2):c.685C>T:p.Arg229Ter	coding	Pathogenic
6	87530895	T	G	T87530895G	RARS2	NM_020320.5(RARS2):c.660A>C:p.Ala220=	coding	Benign/Likely_benign
6	87534930	C	T	C87534930T	RARS2	NM_020320.5(RARS2):c.613-3988G>A	noncoding	Benign
6	87541924	G	A	G87541924A	RARS2	NM_020320.5(RARS2):c.606C>T:p.Leu202=	coding	Benign
6	87542109	G	A	G87542109A	RARS2	NM_020320.5(RARS2):c.536-115C>T	noncoding	Benign
6	87545720	T	C	T87545720C	RARS2	NM_020320.5(RARS2):c.452-21A>G	noncoding	Benign
6	87548623	A	C	A87548623C	RARS2	NM_020320.5(RARS2):c.419T>G:p.Phe140Cys	coding	Pathogenic/Likely_pathogenic
6	87548889	G	C	G87548889C	RARS2	NM_020320.5(RARS2):c.396-243C>G	noncoding	Benign
6	87564188	T	A	T87564188A	RARS2	NM_020320.5(RARS2):c.155A>T:p.Lys52Ile	coding	Benign
6	87564251	A	C	A87564251C	RARS2	NM_020320.5(RARS2):c.111-19T>G	noncoding	Benign
6	87564252	C	T	C87564252T	RARS2	NM_020320.5(RARS2):c.111-20G>A	noncoding	Benign
6	87569512	T	C	T87569512C	RARS2	NM_020320.5(RARS2):c.110+5A>G	noncoding	Pathogenic
6	87569564	T	C	T87569564C	RARS2	NM_020320.5(RARS2):c.63A>G:p.Pro21=	coding	Benign/Likely_benign
6	87589956	A	C	A87589956C	RARS2	NM_020320.5(RARS2):c.2T>G:p.Met1Arg	coding	Pathogenic
6	87589957	T	A	T87589957A	RARS2	NM_020320.5(RARS2):c.1A>T:p.Met1Leu	coding	Pathogenic
6	87589957	T	C	T87589957C	RARS2	NM_020320.5(RARS2):c.1A>G:p.Met1Val	coding	Pathogenic
6	87589965	T	G	T87589965G	RARS2	NM_020320.5(RARS2):c.-8A>C	noncoding	Benign/Likely_benign
6	87589970	G	A	G87589970A	RARS2	NM_020320.5(RARS2):c.-13C>T	noncoding	Benign/Likely_benign
6	87589991	A	C	A87589991C	RARS2	NM_001318785.1(RARS2):c.-724T>G	noncoding	Benign
6	87675861	G	A	G87675861A	AKIRIN2	NM_018064.4(AKIRIN2):c.600C>T:p.Ser200=	coding	Benign
6	87681616	T	C	T87681616C	AKIRIN2	NM_018064.4(AKIRIN2):c.379+4A>G	noncoding	Benign
6	88144363	G	A	G88144363A	CNR1	NM_016083.6(CNR1):c.912C>T:p.His304=	coding	Benign
6	89198067	G	A	G89198067A	GABRR1	NM_002042.5(GABRR1):c.525C>T:p.Asn175=	coding	Benign
6	89264443	T	C	T89264443C	GABRR2	NM_002043.5(GABRR2):c.1055A>G:p.Gln352Arg	coding	Benign
6	89264508	G	A	G89264508A	GABRR2	NM_002043.5(GABRR2):c.990C>T:p.Val330=	coding	Benign
6	89299793	G	A	G89299793A	GABRR2	NM_002043.5(GABRR2):c.186C>T:p.Asp62=	coding	Benign
6	89606057	A	G	A89606057G	ANKRD6	NM_001242809.2(ANKRD6):c.369A>G:p.Ser123=	coding	Benign
6	89627583	A	C	A89627583C	ANKRD6	NM_001242809.2(ANKRD6):c.1372A>C:p.Met458Leu	coding	Benign
6	89630728	C	T	C89630728T	ANKRD6	NM_001242809.2(ANKRD6):c.1908C>T:p.Pro636=	coding	Benign
6	89630926	G	A	G89630926A	ANKRD6	NM_001242809.2(ANKRD6):c.2106G>A:p.Lys702=	coding	Benign
6	89664564	A	G	A89664564G	MDN1	NM_014611.3(MDN1):c.14159T>C:p.Ile4720Thr	coding	Benign
6	89674555	T	C	T89674555C	MDN1	NM_014611.3(MDN1):c.12796A>G:p.Arg4266Gly	coding	Benign
6	89702058	A	C	A89702058C	MDN1	NM_014611.3(MDN1):c.8152T>G:p.Leu2718Val	coding	Benign
6	89762425	C	T	C89762425T	MDN1	NM_014611.3(MDN1):c.2250G>A:p.Gly750=	coding	Benign
6	89932572	C	T	C89932572T	BACH2	NM_021813.4(BACH2):c.2362G>A:p.Glu788Lys	coding	Pathogenic
6	89932573	G	A	G89932573A	BACH2	NM_021813.4(BACH2):c.2361C>T:p.Ser787=	coding	Benign
6	89932831	T	C	T89932831C	BACH2	NM_021813.4(BACH2):c.2103A>G:p.Glu701=	coding	Benign
6	89950570	G	C	G89950570C	BACH2	NM_021813.4(BACH2):c.1536C>G:p.Pro512=	coding	Benign
6	89950854	C	T	C89950854T	BACH2	NM_021813.4(BACH2):c.1252G>A:p.Ala418Thr	coding	Benign
6	90008774	A	G	A90008774G	BACH2	NM_021813.4(BACH2):c.71T>C:p.Leu24Pro	coding	Pathogenic
6	90008830	C	T	C90008830T	BACH2	NM_021813.4(BACH2):c.15G>A:p.Glu5=	coding	Benign
6	90516567	G	A	G90516567A	MAP3K7	NM_145331.3(MAP3K7):c.1755C>T:p.Tyr585=	coding	Benign
6	90523793	G	T	G90523793T	MAP3K7	NM_145331.3(MAP3K7):c.1357-10C>A	noncoding	Benign
6	90550552	A	G	A90550552G	MAP3K7	NM_145331.3(MAP3K7):c.868-3T>C	noncoding	Benign
6	90552186	T	C	T90552186C	MAP3K7	NM_145331.3(MAP3K7):c.737-7A>G	noncoding	Pathogenic
6	90553473	A	C	A90553473C	MAP3K7	NM_145331.3(MAP3K7):c.721T>G:p.Trp241Gly	coding	Pathogenic
6	90553473	A	T	A90553473T	MAP3K7	NM_145331.3(MAP3K7):c.721T>A:p.Trp241Arg	coding	Pathogenic
6	90556603	C	T	C90556603T	MAP3K7	NM_145331.3(MAP3K7):c.504G>A:p.Gly168=	coding	Benign
6	90556605	C	G	C90556605G	MAP3K7	NM_145331.3(MAP3K7):c.502G>C:p.Gly168Arg	coding	Pathogenic
6	90560223	G	C	G90560223C	MAP3K7	NM_145331.3(MAP3K7):c.344-9C>G	noncoding	Benign
6	90561613	G	T	G90561613T	MAP3K7	NM_145331.3(MAP3K7):c.343+9C>A	noncoding	Benign
6	90561637	C	A	C90561637A	MAP3K7	NM_145331.3(MAP3K7):c.328G>T:p.Gly110Cys	coding	Pathogenic
6	90561666	A	T	A90561666T	MAP3K7	NM_145331.3(MAP3K7):c.299T>A:p.Val100Glu	coding	Pathogenic
6	90571720	C	G	C90571720G	MAP3K7	NM_145331.3(MAP3K7):c.208G>C:p.Glu70Gln	coding	Pathogenic
6	96548257	C	T	C96548257T	UFL1	NM_015323.5(UFL1):c.1496C>T:p.Ser499Leu	coding	Benign
6	96548258	G	A	G96548258A	UFL1	NM_015323.5(UFL1):c.1497G>A:p.Ser499=	coding	Benign
6	96552489	C	G	C96552489G	UFL1	NM_015323.5(UFL1):c.1993C>G:p.Leu665Val	coding	Benign
6	96889661	C	T	C96889661T	NDUFAF4	NM_014165.4(NDUFAF4):c.*1443G>A	noncoding	Benign
6	96890722	A	T	A96890722T	NDUFAF4	NM_014165.4(NDUFAF4):c.*382T>A	noncoding	Benign
6	96890772	T	A	T96890772A	NDUFAF4	NM_014165.4(NDUFAF4):c.*332A>T	noncoding	Benign
6	96890781	T	A	T96890781A	NDUFAF4	NM_014165.4(NDUFAF4):c.*323A>T	noncoding	Benign
6	96890803	A	T	A96890803T	NDUFAF4	NM_014165.4(NDUFAF4):c.*301T>A	noncoding	Benign
6	96891202	A	G	A96891202G	NDUFAF4	NM_014165.4(NDUFAF4):c.430T>C:p.Leu144=	coding	Benign
6	96891212	C	T	C96891212T	NDUFAF4	NM_014165.4(NDUFAF4):c.420G>A:p.Gln140=	coding	Benign
6	96891352	T	G	T96891352G	NDUFAF4	NM_014165.4(NDUFAF4):c.280A>C:p.Arg94=	coding	Benign
6	96896790	A	G	A96896790G	NDUFAF4	NM_014165.4(NDUFAF4):c.194T>C:p.Leu65Pro	coding	Pathogenic
6	96897357	G	A	G96897357A	NDUFAF4	NM_014165.4(NDUFAF4):c.136+309C>T	noncoding	Benign
6	96897517	G	A	G96897517A	NDUFAF4	NM_014165.4(NDUFAF4):c.136+149C>T	noncoding	Benign
6	96897691	G	A	G96897691A	NDUFAF4	NM_014165.4(NDUFAF4):c.111C>T:p.Asn37=	coding	Benign/Likely_benign
6	96897762	G	T	G96897762T	NDUFAF4	NM_014165.4(NDUFAF4):c.40C>A:p.Leu14Ile	coding	Benign/Likely_benign
6	96898113	A	G	A96898113G	NDUFAF4	NM_001323258.2(KLHL32):c.-2186A>G	noncoding	Benign
6	98874273	T	C	T98874273C	FBXL4	NM_001278716.2(FBXL4):c.*5A>G	noncoding	Benign
6	98874275	A	G	A98874275G	FBXL4	NM_001278716.2(FBXL4):c.*3T>C	noncoding	Benign
6	98874354	T	G	T98874354G	FBXL4	NM_001278716.2(FBXL4):c.1790A>C:p.Gln597Pro	coding	Pathogenic/Likely_pathogenic
6	98874441	C	G	C98874441G	FBXL4	NM_001278716.2(FBXL4):c.1703G>C:p.Gly568Ala	coding	Pathogenic/Likely_pathogenic
6	98875430	G	A	G98875430A	FBXL4	NM_001278716.2(FBXL4):c.1687C>T:p.Gln563Ter	coding	Pathogenic
6	98875465	A	T	A98875465T	FBXL4	NM_001278716.2(FBXL4):c.1652T>A:p.Ile551Asn	coding	Pathogenic
6	98875548	C	T	C98875548T	FBXL4	NM_001278716.2(FBXL4):c.1569G>A:p.Gly523=	coding	Benign
6	98875562	G	A	G98875562A	FBXL4	NM_001278716.2(FBXL4):c.1555C>T:p.Gln519Ter	coding	Pathogenic
6	98875673	G	A	G98875673A	FBXL4	NM_001278716.2(FBXL4):c.1444C>T:p.Arg482Trp	coding	Pathogenic/Likely_pathogenic
6	98880331	A	G	A98880331G	FBXL4	NM_001278716.2(FBXL4):c.1389+222T>C	noncoding	Benign
6	98880854	G	A	G98880854A	FBXL4	NM_001278716.2(FBXL4):c.1318-230C>T	noncoding	Benign
6	98899268	C	T	C98899268T	FBXL4	NM_001278716.2(FBXL4):c.1317G>A:p.Glu439=	coding	Pathogenic
6	98899281	C	T	C98899281T	FBXL4	NM_001278716.2(FBXL4):c.1304G>A:p.Arg435Gln	coding	Pathogenic/Likely_pathogenic
6	98899282	G	A	G98899282A	FBXL4	NM_001278716.2(FBXL4):c.1303C>T:p.Arg435Ter	coding	Pathogenic
6	98899297	G	A	G98899297A	FBXL4	NM_001278716.2(FBXL4):c.1288C>T:p.Arg430Ter	coding	Pathogenic/Likely_pathogenic
6	98899375	G	A	G98899375A	FBXL4	NM_001278716.2(FBXL4):c.1210C>T:p.Gln404Ter	coding	Pathogenic
6	98905396	A	G	A98905396G	FBXL4	NM_001278716.2(FBXL4):c.1103+30T>C	noncoding	Benign
6	98905551	T	C	T98905551C	FBXL4	NM_001278716.2(FBXL4):c.978A>G:p.Gln326=	coding	Benign
6	98905671	C	A	C98905671A	FBXL4	NM_001278716.2(FBXL4):c.859-1G>T	coding	Pathogenic
6	98917373	C	A	C98917373A	FBXL4	NM_001278716.2(FBXL4):c.858+1G>T	noncoding	Pathogenic
6	98917610	C	A	C98917610A	FBXL4	NM_001278716.2(FBXL4):c.622G>T:p.Glu208Ter	coding	Pathogenic
6	98917616	G	A	G98917616A	FBXL4	NM_001278716.2(FBXL4):c.616C>T:p.Arg206Ter	coding	Pathogenic
6	98917720	C	T	C98917720T	FBXL4	NM_001278716.2(FBXL4):c.513-1G>A	coding	Pathogenic
6	98926179	C	T	C98926179T	FBXL4	NM_001278716.2(FBXL4):c.512+298G>A	noncoding	Benign
6	98926304	A	C	A98926304C	FBXL4	NM_001278716.2(FBXL4):c.512+173T>G	noncoding	Benign
6	98926521	A	G	A98926521G	FBXL4	NM_001278716.2(FBXL4):c.468T>C:p.Ala156=	coding	Benign/Likely_benign
6	98926524	G	A	G98926524A	FBXL4	NM_001278716.2(FBXL4):c.465C>T:p.Leu155=	coding	Benign
6	98926560	T	C	T98926560C	FBXL4	NM_001278716.2(FBXL4):c.429A>G:p.Leu143=	coding	Benign/Likely_benign
6	98926673	G	A	G98926673A	FBXL4	NM_001278716.2(FBXL4):c.316C>T:p.Gln106Ter	coding	Pathogenic
6	98926697	G	A	G98926697A	FBXL4	NM_001278716.2(FBXL4):c.292C>T:p.Arg98Ter	coding	Pathogenic
6	98926770	A	T	A98926770T	FBXL4	NM_001278716.2(FBXL4):c.219T>A:p.Tyr73Ter	coding	Pathogenic
6	98926883	T	A	T98926883A	FBXL4	NM_001278716.2(FBXL4):c.106A>T:p.Arg36Ter	coding	Pathogenic
6	98926884	A	T	A98926884T	FBXL4	NM_001278716.2(FBXL4):c.105T>A:p.His35Gln	coding	Benign
6	98926925	G	A	G98926925A	FBXL4	NM_001278716.2(FBXL4):c.64C>T:p.Arg22Ter	coding	Pathogenic
6	99443648	C	A	C99443648A	USP45	NM_001346022.3(USP45):c.1990G>T:p.Gly664Ter	coding	Pathogenic
6	99445900	G	A	G99445900A	USP45	NM_001080481.2(USP45):c.1872C>T:p.Leu624=	coding	Benign
6	99445954	G	A	G99445954A	USP45	NM_001080481.2(USP45):c.1818C>T:p.Thr606=	coding	Benign
6	99464718	C	T	C99464718T	USP45	NM_001080481.2(USP45):c.1194G>A:p.Met398Ile	coding	Benign
6	99466733	A	C	A99466733C	USP45	NM_001080481.2(USP45):c.1046T>G:p.Phe349Cys	coding	Benign
6	99468617	C	T	C99468617T	USP45	NM_001346022.3(USP45):c.935G>A:p.Arg312Gln	coding	Pathogenic
6	99482751	A	G	A99482751G	USP45	NM_001080481.2(USP45):c.845+2T>C	noncoding	Benign
6	99503853	A	G	A99503853G	USP45	NM_001080481.2(USP45):c.390T>C:p.Cys130=	coding	Benign
6	99593030	G	T	G99593030T	LOC111365204	NC_000006.11:g.100040906G>T	noncoding	Pathogenic
6	99593111	G	C	G99593111C	LOC111365204	NC_000006.11:g.100040987G>C	noncoding	Pathogenic
6	99593164	C	T	C99593164T	LOC111365204	NC_000006.11:g.100041040C>T	noncoding	Pathogenic
6	99598907	A	C	A99598907C	-	Single_allele	noncoding	Pathogenic
6	99598928	T	C	T99598928C	-	Single_allele	noncoding	Pathogenic
6	99607168	C	T	C99607168T	PRDM13	NM_021620.4(PRDM13):c.134C>T:p.Pro45Leu	coding	Benign
6	99613722	C	A	C99613722A	PRDM13	NM_021620.4(PRDM13):c.1087C>A:p.His363Asn	coding	Benign
6	99613916	G	A	G99613916A	PRDM13	NM_021620.4(PRDM13):c.1281G>A:p.Pro427=	coding	Benign
6	99921048	G	T	G99921048T	MCHR2	NM_001040179.2(MCHR2):c.915C>A:p.Leu305=	coding	Benign
6	99942999	G	A	G99942999A	MCHR2	NM_001040179.2(MCHR2):c.537C>T:p.Asp179=	coding	Benign
6	100388908	C	A	C100388908A	SIM1	NM_005068.2(SIM1):c.*1453G>T	noncoding	Benign
6	100389362	A	G	A100389362G	SIM1	NM_005068.3(SIM1):c.*999T>C	noncoding	Benign
6	100389891	G	A	G100389891A	SIM1	NM_005068.3(SIM1):c.*470C>T	noncoding	Benign
6	100389986	G	A	G100389986A	SIM1	NM_005068.2(SIM1):c.*375C>T	noncoding	Benign
6	100390013	T	A	T100390013A	SIM1	NM_005068.2(SIM1):c.*348A>T	noncoding	Benign
6	100390248	T	A	T100390248A	SIM1	NM_005068.2(SIM1):c.*113A>T	noncoding	Benign
6	100390310	C	T	C100390310T	SIM1	NM_005068.2(SIM1):c.*51G>A	noncoding	Benign
6	100390370	G	A	G100390370A	SIM1	NM_005068.3(SIM1):c.2292C>T:p.Asn764=	coding	Benign/Likely_benign
6	100390562	G	C	G100390562C	SIM1	NM_005068.3(SIM1):c.2100C>G:p.Gly700=	coding	Benign/Likely_benign
6	100390668	C	T	C100390668T	SIM1	NM_005068.2(SIM1):c.1994G>A:p.Arg665His	coding	Benign
6	100390703	G	A	G100390703A	SIM1	NM_005068.3(SIM1):c.1959C>T:p.Thr653=	coding	Benign
6	100393659	G	A	G100393659A	SIM1	NM_005068.3(SIM1):c.1398C>T:p.Ala466=	coding	Benign
6	100393821	G	T	G100393821T	SIM1	NM_005068.2(SIM1):c.1236C>A:p.Thr412=	coding	Benign/Likely_benign
6	100420811	G	T	G100420811T	SIM1	NM_005068.3(SIM1):c.1146C>A:p.Ser382=	coding	Benign
6	100420845	G	A	G100420845A	SIM1	NM_005068.2(SIM1):c.1112C>T:p.Ala371Val	coding	Benign
6	100420875	G	A	G100420875A	SIM1	NM_005068.2(SIM1):c.1082C>T:p.Thr361Ile	coding	Benign/Likely_benign
6	100420903	G	T	G100420903T	SIM1	NM_005068.2(SIM1):c.1054C>A:p.Pro352Thr	coding	Benign
6	100448693	T	G	T100448693G	SIM1	NM_005068.2(SIM1):c.544-15A>C	noncoding	Benign
6	100463558	G	T	G100463558T	SIM1	NM_005068.3(SIM1):c.-90C>A	noncoding	Benign
6	100463595	A	G	A100463595G	SIM1	NM_005068.2(SIM1):c.-127T>C	noncoding	Benign
6	100631163	A	G	A100631163G	ASCC3	NM_006828.4(ASCC3):c.4173T>C:p.Asp1391=	coding	Benign
6	100638652	A	G	A100638652G	ASCC3	NM_006828.4(ASCC3):c.4071T>C:p.Val1357=	coding	Benign
6	100642669	T	A	T100642669A	ASCC3	NM_006828.4(ASCC3):c.3813A>T:p.Ala1271=	coding	Benign
6	100646640	T	C	T100646640C	ASCC3	NM_006828.4(ASCC3):c.3608A>G:p.Tyr1203Cys	coding	Benign
6	100650642	C	T	C100650642T	ASCC3	NM_006828.4(ASCC3):c.3148G>A:p.Val1050Ile	coding	Benign
6	100715488	A	G	A100715488G	ASCC3	NM_006828.4(ASCC3):c.2125T>C:p.Leu709=	coding	Benign
6	100805783	T	C	T100805783C	ASCC3	NM_006828.4(ASCC3):c.899A>G:p.Asp300Gly	coding	Benign
6	100848409	G	A	G100848409A	ASCC3	NM_006828.4(ASCC3):c.540C>T:p.Asp180=	coding	Benign
6	101676673	C	T	C101676673T	GRIK2	NM_021956.4(GRIK2):c.592C>T:p.Arg198Ter	coding	Pathogenic
6	101676753	T	C	T101676753C	GRIK2	NM_021956.4(GRIK2):c.672T>C:p.Phe224=	coding	Benign
6	101686341	T	C	T101686341C	GRIK2	NM_021956.4(GRIK2):c.939T>C:p.Asp313=	coding	Benign
6	101802400	T	C	T101802400C	GRIK2	NM_021956.4(GRIK2):c.1165T>C:p.Leu389=	coding	Benign
6	101928526	C	A	C101928526A	GRIK2	NM_175768.3(GRIK2):c.1979C>A:p.Thr660Lys	coding	Pathogenic
6	102035551	G	A	G102035551A	GRIK2	NM_021956.4(GRIK2):c.2296G>A:p.Val766Ile	coding	Benign/Likely_benign
6	102055322	T	G	T102055322G	GRIK2	NM_021956.4(GRIK2):c.2312-8T>G	noncoding	Benign
6	102068385	G	A	G102068385A	GRIK2	NM_021956.4(GRIK2):c.2601G>A:p.Met867Ile	coding	Benign
6	104730350	G	A	G104730350A	HACE1	NM_020771.4(HACE1):c.2580C>T:p.Ile860=	coding	Benign
6	104750442	G	A	G104750442A	HACE1	NM_020771.4(HACE1):c.2242C>T:p.Arg748Ter	coding	Pathogenic
6	104750449	A	T	A104750449T	HACE1	NM_020771.4(HACE1):c.2235T>A:p.Thr745=	coding	Benign
6	104771949	G	A	G104771949A	HACE1	NM_020771.4(HACE1):c.1990C>T:p.Arg664Ter	coding	Pathogenic
6	104777077	G	T	G104777077T	HACE1	NM_020771.4(HACE1):c.1712C>A:p.Ser571Ter	coding	Pathogenic
6	104784998	G	A	G104784998A	HACE1	NM_020771.4(HACE1):c.1396C>T:p.Gln466Ter	coding	Pathogenic
6	104785198	T	C	T104785198C	HACE1	NM_020771.4(HACE1):c.1196A>G:p.Asp399Gly	coding	Benign
6	104791584	G	A	G104791584A	HACE1	NM_020771.4(HACE1):c.994C>T:p.Arg332Ter	coding	Pathogenic
6	104796666	G	A	G104796666A	HACE1	NM_020771.4(HACE1):c.805C>T:p.Arg269Ter	coding	Pathogenic
6	104796938	T	C	T104796938C	HACE1	NM_020771.4(HACE1):c.705A>G:p.Leu235=	coding	Benign
6	104796988	G	A	G104796988A	HACE1	NM_020771.4(HACE1):c.655C>T:p.Arg219Ter	coding	Pathogenic
6	104833122	G	A	G104833122A	HACE1	NM_020771.4(HACE1):c.454C>T:p.Gln152Ter	coding	Pathogenic
6	104849228	G	T	G104849228T	HACE1	NM_020771.4(HACE1):c.240C>A:p.Cys80Ter	coding	Pathogenic
6	104849237	C	A	C104849237A	HACE1	NM_020771.4(HACE1):c.231G>T:p.Ser77=	coding	Benign
6	105026441	C	T	C105026441T	LIN28B	NM_001004317.4(LIN28B):c.342C>T:p.Pro114=	coding	Benign
6	105115676	G	A	G105115676A	BVES	NM_001199563.2(BVES):c.958+10C>T	noncoding	Benign
6	105116699	A	G	A105116699G	BVES	NM_001199563.2(BVES):c.816+2T>C	noncoding	Pathogenic
6	105116809	T	G	T105116809G	BVES	NM_001199563.2(BVES):c.708A>C:p.Thr236=	coding	Benign
6	105124593	G	A	G105124593A	BVES	NM_001199563.2(BVES):c.602C>T:p.Ser201Phe	coding	Pathogenic
6	105125523	C	T	C105125523T	BVES	NM_001199563.2(BVES):c.407G>A:p.Arg136His	coding	Benign
6	105125545	G	A	G105125545A	BVES	NM_001199563.2(BVES):c.385C>T:p.Arg129Trp	coding	Benign
6	105125549	C	T	C105125549T	BVES	NM_001199563.2(BVES):c.381G>A:p.Met127Ile	coding	Benign
6	105133535	T	C	T105133535C	BVES	NM_001199563.2(BVES):c.43A>G:p.Ile15Val	coding	Benign
6	105133569	A	G	A105133569G	BVES	NM_001199563.2(BVES):c.9T>C:p.Tyr3=	coding	Benign
6	105133577	T	C	T105133577C	BVES	NM_001199563.2(BVES):c.1A>G:p.Met1Val	coding	Pathogenic
6	105158564	C	T	C105158564T	POPDC3	NM_022361.5(POPDC3):c.782G>A:p.Arg261Gln	coding	Pathogenic
6	105158695	T	A	T105158695A	POPDC3	NM_022361.5(POPDC3):c.651A>T:p.Leu217Phe	coding	Pathogenic
6	105159789	C	T	C105159789T	POPDC3	NM_022361.5(POPDC3):c.516G>A:p.Leu172=	coding	Benign
6	105161446	A	T	A105161446T	POPDC3	NM_022361.5(POPDC3):c.464T>A:p.Leu155His	coding	Pathogenic
6	105161515	C	T	C105161515T	POPDC3	NM_022361.5(POPDC3):c.395G>A:p.Ser132Asn	coding	Benign
6	105161898	A	G	A105161898G	POPDC3	NM_022361.5(POPDC3):c.12T>C:p.Asn4=	coding	Benign
6	105278237	G	A	G105278237A	PREP	NM_002726.5(PREP):c.2040C>T:p.His680=	coding	Benign
6	106095710	C	T	C106095710T	PRDM1	NM_001198.4(PRDM1):c.387C>T:p.Asn129=	coding	Benign
6	106104971	A	G	A106104971G	PRDM1	NM_001198.4(PRDM1):c.811A>G:p.Ile271Val	coding	Benign
6	106105017	G	C	G106105017C	PRDM1	NM_001198.4(PRDM1):c.857G>C:p.Arg286Pro	coding	Benign
6	106279754	T	C	T106279754C	ATG5	NM_004849.4(ATG5):c.385A>G:p.Met129Val	coding	Benign
6	106279773	T	A	T106279773A	ATG5	NM_004849.4(ATG5):c.366A>T:p.Glu122Asp	coding	Pathogenic
6	106293114	T	C	T106293114C	ATG5	NM_004849.4(ATG5):c.237-8A>G	noncoding	Benign
6	106308407	T	C	T106308407C	ATG5	NM_004849.4(ATG5):c.193A>G:p.Ile65Val	coding	Benign
6	106316143	T	C	T106316143C	ATG5	NM_004849.4(ATG5):c.66A>G:p.Leu22=	coding	Benign
6	106572101	G	A	G106572101A	RTN4IP1	NM_032730.5(RTN4IP1):c.1086C>T:p.Ile362=	coding	Benign
6	106602898	G	A	G106602898A	RTN4IP1	NM_032730.5(RTN4IP1):c.645C>T:p.Gly215=	coding	Benign
6	106619221	T	A	T106619221A	RTN4IP1	NM_032730.5(RTN4IP1):c.601A>T:p.Lys201Ter	coding	Pathogenic
6	106622936	C	T	C106622936T	RTN4IP1	NM_032730.5(RTN4IP1):c.308G>A:p.Arg103His	coding	Pathogenic
6	106628884	C	T	C106628884T	RTN4IP1	NM_032730.5(RTN4IP1):c.138G>A:p.Trp46Ter	coding	Pathogenic
6	106628892	G	T	G106628892T	RTN4IP1	NM_032730.5(RTN4IP1):c.130C>A:p.Pro44Thr	coding	Benign
6	106640893	G	A	G106640893A	QRSL1	NM_018292.5(QRSL1):c.255G>A:p.Glu85=	coding	Benign
6	106643060	G	A	G106643060A	QRSL1	NM_018292.5(QRSL1):c.350G>A:p.Gly117Glu	coding	Pathogenic
6	106649042	G	T	G106649042T	QRSL1	NM_018292.5(QRSL1):c.398G>T:p.Gly133Val	coding	Pathogenic
6	106649199	C	A	C106649199A	QRSL1	NM_018292.5(QRSL1):c.555C>A:p.Tyr185Ter	coding	Pathogenic
6	106654727	A	G	A106654727G	QRSL1	NM_018292.5(QRSL1):c.850-3A>G	noncoding	Pathogenic
6	107069751	G	A	G107069751A	BEND3	NM_001367314.1(BEND3):c.1440C>T:p.Leu480=	coding	Benign
6	107154670	C	T	C107154670T	PDSS2	NM_020381.4(PDSS2):c.1149G>A:p.Glu383=	coding	Benign/Likely_benign
6	107154673	C	T	C107154673T	PDSS2	NM_020381.4(PDSS2):c.1146G>A:p.Ser382=	coding	Benign
6	107154674	G	A	G107154674A	PDSS2	NM_020381.4(PDSS2):c.1145C>T:p.Ser382Leu	coding	Pathogenic
6	107155014	T	C	T107155014C	PDSS2	NM_020381.4(PDSS2):c.1042-237A>G	noncoding	Benign
6	107210483	G	A	G107210483A	PDSS2	NM_020381.4(PDSS2):c.964C>T:p.Gln322Ter	coding	Pathogenic
6	107210572	T	C	T107210572C	PDSS2	NM_020381.4(PDSS2):c.877-2A>G	noncoding	Pathogenic
6	107211956	T	G	T107211956G	PDSS2	NM_020381.4(PDSS2):c.876+153A>C	noncoding	Benign
6	107212061	G	A	G107212061A	PDSS2	NM_020381.4(PDSS2):c.876+48C>T	noncoding	Benign
6	107274107	T	G	T107274107G	PDSS2	NM_020381.4(PDSS2):c.552A>C:p.Gly184=	coding	Benign/Likely_benign
6	107333915	A	G	A107333915G	PDSS2	NM_020381.4(PDSS2):c.431+283T>C	noncoding	Benign
6	107334181	G	A	G107334181A	PDSS2	NM_020381.4(PDSS2):c.431+17C>T	noncoding	Benign
6	107459275	C	G	C107459275G	PDSS2	NM_020381.4(PDSS2):c.11G>C:p.Arg4Pro	coding	Benign
6	107459279	A	G	A107459279G	PDSS2	NM_020381.4(PDSS2):c.7T>C:p.Phe3Leu	coding	Benign
6	107506325	A	G	A107506325G	SOBP	NM_018013.4(SOBP):c.319A>G:p.Thr107Ala	coding	Benign/Likely_benign
6	107634260	C	A	C107634260A	SOBP	NM_018013.4(SOBP):c.1416C>A:p.Pro472=	coding	Benign
6	107634459	A	G	A107634459G	SOBP	NM_018013.4(SOBP):c.1615A>G:p.Ile539Val	coding	Benign
6	107634825	C	T	C107634825T	SOBP	NM_018013.4(SOBP):c.1981C>T:p.Arg661Ter	coding	Pathogenic
6	107634891	A	G	A107634891G	SOBP	NM_018013.4(SOBP):c.2047A>G:p.Ser683Gly	coding	Benign
6	107635307	G	C	G107635307C	SOBP	NM_018013.4(SOBP):c.2463G>C:p.Leu821=	coding	Benign
6	107707929	C	T	C107707929T	SCML4	NM_198081.5(SCML4):c.1056G>A:p.Val352=	coding	Benign
6	107707990	G	A	G107707990A	SCML4	NM_198081.5(SCML4):c.995C>T:p.Ala332Val	coding	Benign
6	107867809	A	G	A107867809G	SEC63	NM_007214.5(SEC63):c.*3895T>C	noncoding	Benign
6	107868124	C	T	C107868124T	SEC63	NM_007214.5(SEC63):c.*3580G>A	noncoding	Benign
6	107868202	G	A	G107868202A	SEC63	NM_007214.5(SEC63):c.*3502C>T	noncoding	Benign
6	107868203	T	C	T107868203C	SEC63	NM_007214.5(SEC63):c.*3501A>G	noncoding	Benign
6	107868205	T	G	T107868205G	SEC63	NM_007214.5(SEC63):c.*3499A>C	noncoding	Benign
6	107868206	G	A	G107868206A	SEC63	NM_007214.5(SEC63):c.*3498C>T	noncoding	Benign
6	107868207	T	C	T107868207C	SEC63	NM_007214.5(SEC63):c.*3497A>G	noncoding	Benign
6	107868273	T	G	T107868273G	SEC63	NM_007214.5(SEC63):c.*3431A>C	noncoding	Benign
6	107868311	G	A	G107868311A	SEC63	NM_007214.5(SEC63):c.*3393C>T	noncoding	Benign
6	107868314	C	T	C107868314T	SEC63	NM_007214.5(SEC63):c.*3390G>A	noncoding	Benign
6	107868370	G	A	G107868370A	SEC63	NM_007214.5(SEC63):c.*3334C>T	noncoding	Benign
6	107868818	T	G	T107868818G	SEC63	NM_007214.5(SEC63):c.*2886A>C	noncoding	Benign
6	107868893	G	A	G107868893A	SEC63	NM_007214.5(SEC63):c.*2811C>T	noncoding	Benign
6	107868999	A	G	A107868999G	SEC63	NM_007214.5(SEC63):c.*2705T>C	noncoding	Benign
6	107869042	C	T	C107869042T	SEC63	NM_007214.5(SEC63):c.*2662G>A	noncoding	Benign
6	107869248	C	T	C107869248T	SEC63	NM_007214.5(SEC63):c.*2456G>A	noncoding	Benign
6	107869328	T	A	T107869328A	SEC63	NM_007214.5(SEC63):c.*2376A>T	noncoding	Benign
6	107869618	C	G	C107869618G	SEC63	NM_007214.5(SEC63):c.*2086G>C	noncoding	Benign
6	107869658	G	C	G107869658C	SEC63	NM_007214.5(SEC63):c.*2046C>G	noncoding	Benign
6	107869803	T	C	T107869803C	SEC63	NM_007214.5(SEC63):c.*1901A>G	noncoding	Benign
6	107869865	G	C	G107869865C	SEC63	NM_007214.5(SEC63):c.*1839C>G	noncoding	Benign
6	107869999	C	T	C107869999T	SEC63	NM_007214.5(SEC63):c.*1705G>A	noncoding	Benign
6	107870092	A	G	A107870092G	SEC63	NM_007214.5(SEC63):c.*1612T>C	noncoding	Benign
6	107870178	A	G	A107870178G	SEC63	NM_007214.5(SEC63):c.*1526T>C	noncoding	Benign
6	107870306	T	G	T107870306G	SEC63	NM_007214.5(SEC63):c.*1398A>C	noncoding	Benign
6	107870526	A	C	A107870526C	SEC63	NM_007214.5(SEC63):c.*1178T>G	noncoding	Benign
6	107870797	G	A	G107870797A	SEC63	NM_007214.5(SEC63):c.*907C>T	noncoding	Benign
6	107870843	T	C	T107870843C	SEC63	NM_007214.5(SEC63):c.*861A>G	noncoding	Benign
6	107871293	G	A	G107871293A	SEC63	NM_007214.5(SEC63):c.*411C>T	noncoding	Benign
6	107871448	A	G	A107871448G	SEC63	NM_007214.5(SEC63):c.*256T>C	noncoding	Benign
6	107871581	A	T	A107871581T	SEC63	NM_007214.5(SEC63):c.*123T>A	noncoding	Benign
6	107872813	A	G	A107872813G	SEC63	NM_007214.5(SEC63):c.2134T>C:p.Leu712=	coding	Benign
6	107876571	G	A	G107876571A	SEC63	NM_007214.5(SEC63):c.2027C>T:p.Thr676Ile	coding	Benign
6	107876573	A	T	A107876573T	SEC63	NM_007214.5(SEC63):c.2025T>A:p.Asp675Glu	coding	Benign
6	107876614	T	C	T107876614C	SEC63	NM_007214.5(SEC63):c.1984A>G:p.Thr662Ala	coding	Benign
6	107893482	A	G	A107893482G	SEC63	NM_007214.5(SEC63):c.1674T>C:p.Asn558=	coding	Benign
6	107893490	C	T	C107893490T	SEC63	NM_007214.5(SEC63):c.1666G>A:p.Val556Ile	coding	Benign
6	107893901	G	C	G107893901C	SEC63	NM_007214.5(SEC63):c.1441-4C>G	noncoding	Benign
6	107893902	G	A	G107893902A	SEC63	NM_007214.5(SEC63):c.1441-5C>T	noncoding	Benign
6	107901449	G	A	G107901449A	SEC63	NM_007214.5(SEC63):c.1278C>T:p.Phe426=	coding	Benign
6	107904704	T	C	T107904704C	SEC63	NM_007214.5(SEC63):c.979A>G:p.Lys327Glu	coding	Benign
6	107906704	C	T	C107906704T	SEC63	NM_007214.5(SEC63):c.807G>A:p.Thr269=	coding	Benign
6	107908926	C	T	C107908926T	SEC63	NM_007214.5(SEC63):c.733+1G>A	noncoding	Pathogenic
6	107912725	G	A	G107912725A	SEC63	NM_007214.5(SEC63):c.564C>T:p.Asn188=	coding	Benign
6	107913365	C	T	C107913365T	SEC63	NM_007214.5(SEC63):c.514+1G>A	noncoding	Pathogenic
6	107921921	C	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12G>T	noncoding	Benign
6	107929466	C	T	C107929466T	SEC63	NM_007214.5(SEC63):c.173G>A:p.Trp58Ter	coding	Pathogenic
6	107958086	G	A	G107958086A	SEC63	NM_007214.5(SEC63):c.-77C>T	noncoding	Benign
6	108041456	T	C	T108041456C	OSTM1	NM_014028.4(OSTM1):c.*3329A>G	noncoding	Benign
6	108041466	A	C	A108041466C	OSTM1	NM_014028.4(OSTM1):c.*3319T>G	noncoding	Benign
6	108041898	C	T	C108041898T	OSTM1	NM_014028.4(OSTM1):c.*2887G>A	noncoding	Benign
6	108042030	T	C	T108042030C	OSTM1	NM_014028.4(OSTM1):c.*2755A>G	noncoding	Benign
6	108042238	C	T	C108042238T	OSTM1	NM_014028.4(OSTM1):c.*2547G>A	noncoding	Benign
6	108042732	G	A	G108042732A	OSTM1	NM_014028.4(OSTM1):c.*2053C>T	noncoding	Benign
6	108042902	A	G	A108042902G	OSTM1	NM_014028.4(OSTM1):c.*1883T>C	noncoding	Benign
6	108043211	T	C	T108043211C	OSTM1	NM_014028.4(OSTM1):c.*1574A>G	noncoding	Benign
6	108043358	T	C	T108043358C	OSTM1	NM_014028.4(OSTM1):c.*1427A>G	noncoding	Benign
6	108043378	T	C	T108043378C	OSTM1	NM_014028.4(OSTM1):c.*1407A>G	noncoding	Benign
6	108043418	C	T	C108043418T	OSTM1	NM_014028.4(OSTM1):c.*1367G>A	noncoding	Benign
6	108043433	T	C	T108043433C	OSTM1	NM_014028.4(OSTM1):c.*1352A>G	noncoding	Benign
6	108043451	A	G	A108043451G	OSTM1	NM_014028.4(OSTM1):c.*1334T>C	noncoding	Benign
6	108043624	C	T	C108043624T	OSTM1	NM_014028.4(OSTM1):c.*1161G>A	noncoding	Benign
6	108043703	C	T	C108043703T	OSTM1	NM_014028.4(OSTM1):c.*1082G>A	noncoding	Benign
6	108043747	T	C	T108043747C	OSTM1	NM_014028.4(OSTM1):c.*1038A>G	noncoding	Benign
6	108044430	T	C	T108044430C	OSTM1	NM_014028.4(OSTM1):c.*355A>G	noncoding	Benign
6	108044454	T	C	T108044454C	OSTM1	NM_014028.4(OSTM1):c.*331A>G	noncoding	Benign
6	108044573	T	C	T108044573C	OSTM1	NM_014028.4(OSTM1):c.*212A>G	noncoding	Benign
6	108044830	G	C	G108044830C	OSTM1	NM_014028.4(OSTM1):c.960C>G:p.Leu320=	coding	Benign
6	108049248	C	T	C108049248T	OSTM1	NM_014028.4(OSTM1):c.949+5G>A	noncoding	Pathogenic
6	108051026	C	A	C108051026A	OSTM1	NM_014028.4(OSTM1):c.783+5G>T	noncoding	Pathogenic
6	108054482	T	C	T108054482C	OSTM1	NM_014028.4(OSTM1):c.615+8A>G	noncoding	Benign/Likely_benign
6	108064207	T	C	T108064207C	OSTM1	NM_014028.4(OSTM1):c.495A>G:p.Thr165=	coding	Benign/Likely_benign
6	108074431	G	C	G108074431C	OSTM1	NM_014028.4(OSTM1):c.221C>G:p.Pro74Arg	coding	Benign
6	108074445	C	A	C108074445A	OSTM1	NM_014028.4(OSTM1):c.207G>T:p.Gly69=	coding	Benign
6	108074496	C	G	C108074496G	OSTM1	NM_014028.4(OSTM1):c.156G>C:p.Leu52Phe	coding	Benign
6	108074616	A	T	A108074616T	OSTM1	NM_014028.4(OSTM1):c.36T>A:p.Cys12Ter	coding	Pathogenic
6	108561627	C	T	C108561627T	FOXO3	NM_001455.4(FOXO3):c.419C>T:p.Ala140Val	coding	Benign
6	108561712	C	T	C108561712T	FOXO3	NM_001455.4(FOXO3):c.504C>T:p.Arg168=	coding	Benign
6	108663580	G	A	G108663580A	FOXO3	NM_001455.4(FOXO3):c.747G>A:p.Arg249=	coding	Benign
6	108663854	G	A	G108663854A	FOXO3	NM_001455.4(FOXO3):c.1021G>A:p.Ala341Thr	coding	Benign
6	108664018	G	A	G108664018A	FOXO3	NM_001455.4(FOXO3):c.1185G>A:p.Thr395=	coding	Benign
6	108868953	C	T	C108868953T	ARMC2	NM_032131.6(ARMC2):c.421C>T:p.Gln141Ter	coding	Pathogenic
6	108904406	G	A	G108904406A	ARMC2	NM_032131.6(ARMC2):c.1023+1G>A	coding	Pathogenic
6	108964306	T	A	T108964306A	ARMC2	NM_032131.6(ARMC2):c.2279T>A:p.Ile760Asn	coding	Pathogenic
6	109145249	G	T	G109145249T	CEP57L1	NM_173830.5(CEP57L1):c.28G>T:p.Val10Leu	coding	Benign
6	109150170	G	A	G109150170A	CEP57L1	NM_173830.5(CEP57L1):c.393G>A:p.Lys131=	coding	Benign
6	109368871	G	A	G109368871A	CD164	NM_006016.6(CD164):c.574C>T:p.Arg192Ter	coding	Pathogenic
6	109370436	T	C	T109370436C	CD164	NM_006016.6(CD164):c.402A>G:p.Thr134=	coding	Benign
6	109382419	G	C	G109382419C	CD164	NM_006016.6(CD164):c.-41C>G	noncoding	Benign
6	109442830	G	C	G109442830C	SMPD2	NM_003080.3(SMPD2):c.570G>C:p.Leu190=	coding	Benign
6	109444250	G	A	G109444250A	MICAL1	NM_022765.4(MICAL1):c.3145C>T:p.Arg1049Cys	coding	Benign
6	109444281	C	T	C109444281T	MICAL1	NM_022765.4(MICAL1):c.3114G>A:p.Val1038=	coding	Benign
6	109444806	G	A	G109444806A	MICAL1	NM_022765.4(MICAL1):c.2982-8C>T	noncoding	Benign
6	109445268	T	A	T109445268A	MICAL1	NM_022765.4(MICAL1):c.2810A>T:p.Glu937Val	coding	Benign
6	109446726	C	T	C109446726T	MICAL1	NM_022765.4(MICAL1):c.2274G>A:p.Ala758=	coding	Benign
6	109447365	G	T	G109447365T	MICAL1	NM_022765.4(MICAL1):c.2062C>A:p.His688Asn	coding	Benign
6	109450046	G	A	G109450046A	MICAL1	NM_022765.4(MICAL1):c.1231C>T:p.Leu411=	coding	Benign
6	109450512	G	T	G109450512T	MICAL1	NM_022765.4(MICAL1):c.979C>A:p.Pro327Thr	coding	Benign
6	109452331	G	A	G109452331A	MICAL1	NM_022765.4(MICAL1):c.747C>T:p.Thr249=	coding	Benign
6	109452528	C	T	C109452528T	MICAL1	NM_022765.4(MICAL1):c.659G>A:p.Gly220Asp	coding	Benign
6	109452539	C	T	C109452539T	MICAL1	NM_022765.4(MICAL1):c.648G>A:p.Ser216=	coding	Benign
6	109452603	C	T	C109452603T	MICAL1	NM_022765.4(MICAL1):c.584G>A:p.Arg195His	coding	Benign
6	109465875	C	T	C109465875T	ZBTB24	NM_014797.3(ZBTB24):c.2070G>A:p.Thr690=	coding	Benign
6	109466244	G	A	G109466244A	ZBTB24	NM_014797.2(ZBTB24):c.1701C>T:p.Pro567=	coding	Benign
6	109466257	A	G	A109466257G	ZBTB24	NM_014797.2(ZBTB24):c.1688T>C:p.Ile563Thr	coding	Benign
6	109466273	C	T	C109466273T	ZBTB24	NM_014797.2(ZBTB24):c.1672G>A:p.Asp558Asn	coding	Benign
6	109466393	C	T	C109466393T	ZBTB24	NM_014797.2(ZBTB24):c.1552G>A:p.Ala518Thr	coding	Benign
6	109466556	G	C	G109466556C	ZBTB24	NM_014797.2(ZBTB24):c.1389C>G:p.Ser463=	coding	Benign
6	109475465	A	C	A109475465C	ZBTB24	NM_014797.2(ZBTB24):c.1222T>G:p.Cys408Gly	coding	Pathogenic
6	109476170	C	T	C109476170T	ZBTB24	NM_014797.2(ZBTB24):c.1204+5G>A	noncoding	Benign
6	109476187	G	A	G109476187A	ZBTB24	NM_014797.2(ZBTB24):c.1192C>T:p.Arg398Ter	coding	Pathogenic
6	109476925	G	A	G109476925A	ZBTB24	NM_014797.2(ZBTB24):c.958C>T:p.Arg320Ter	coding	Pathogenic
6	109481194	G	C	G109481194C	ZBTB24	NM_014797.2(ZBTB24):c.833C>G:p.Ser278Ter	coding	Pathogenic
6	109481244	G	A	G109481244A	ZBTB24	NM_014797.3(ZBTB24):c.783C>T:p.Ser261=	coding	Benign
6	109481448	C	T	C109481448T	ZBTB24	NM_014797.2(ZBTB24):c.579G>A:p.Gln193=	coding	Benign
6	109481980	G	C	G109481980C	ZBTB24	NM_014797.2(ZBTB24):c.47C>G:p.Ser16Ter	coding	Pathogenic
6	109482013	G	A	G109482013A	ZBTB24	NM_014797.2(ZBTB24):c.14C>T:p.Ser5Leu	coding	Benign
6	109497503	A	G	A109497503G	AK9	NM_001145128.2(AK9):c.5277T>C:p.Tyr1759=	coding	Benign
6	109499194	C	T	C109499194T	AK9	NM_001145128.2(AK9):c.4896G>A:p.Leu1632=	coding	Benign
6	109506403	C	A	C109506403A	AK9	NM_001145128.2(AK9):c.4773G>T:p.Trp1591Cys	coding	Benign
6	109506526	A	G	A109506526G	AK9	NM_001145128.2(AK9):c.4650T>C:p.Asn1550=	coding	Benign
6	109573506	G	A	G109573506A	AK9	NM_001145128.2(AK9):c.2280C>T:p.Thr760=	coding	Benign
6	109610517	A	G	A109610517G	AK9	NM_001145128.2(AK9):c.1694-4T>C	noncoding	Benign
6	109614250	G	C	G109614250C	AK9	NM_001145128.2(AK9):c.1542C>G:p.Asp514Glu	coding	Benign
6	109614375	A	G	A109614375G	AK9	NM_001145128.2(AK9):c.1495+10T>C	noncoding	Benign
6	109619086	T	C	T109619086C	AK9	NM_001145128.2(AK9):c.1399+6A>G	noncoding	Benign
6	109633295	T	C	T109633295C	AK9	NM_001145128.2(AK9):c.962A>G:p.Tyr321Cys	coding	Benign
6	109691254	G	A	G109691254A	FIG4	NM_014845.5(FIG4):c.-182G>A	noncoding	Benign/Likely_benign
6	109691315	G	A	G109691315A	FIG4	NM_014845.5(FIG4):c.-121G>A	noncoding	Benign
6	109691316	C	T	C109691316T	FIG4	NM_014845.5(FIG4):c.-120C>T	noncoding	Benign
6	109691462	C	T	C109691462T	FIG4	NM_014845.5(FIG4):c.27C>T:p.Ile9=	coding	Benign/Likely_benign
6	109691511	C	T	C109691511T	FIG4	NM_014845.5(FIG4):c.66+10C>T	noncoding	Benign/Likely_benign
6	109715071	T	C	T109715071C	FIG4	NM_014845.5(FIG4):c.67-7T>C	noncoding	Benign
6	109715168	G	T	G109715168T	FIG4	NM_014845.5(FIG4):c.157G>T:p.Asp53Tyr	coding	Pathogenic
6	109715276	A	T	A109715276T	FIG4	NM_014845.5(FIG4):c.165+100A>T	noncoding	Benign
6	109716452	A	G	A109716452G	FIG4	NM_014845.5(FIG4):c.173A>G:p.Tyr58Cys	coding	Benign/Likely_benign
6	109716899	G	A	G109716899A	FIG4	NM_014845.5(FIG4):c.289+331G>A	noncoding	Benign
6	109726962	C	T	C109726962T	FIG4	NM_014845.5(FIG4):c.290-147C>T	noncoding	Benign
6	109727107	A	G	A109727107G	FIG4	NM_014845.5(FIG4):c.290-2A>G	noncoding	Pathogenic
6	109727130	G	A	G109727130A	FIG4	NM_014845.5(FIG4):c.311G>A:p.Gly104Asp	coding	Pathogenic
6	109732518	T	G	T109732518G	FIG4	NM_014845.5(FIG4):c.447-119T>G	noncoding	Benign
6	109732621	G	T	G109732621T	FIG4	NM_014845.5(FIG4):c.447-16G>T	noncoding	Benign/Likely_benign
6	109735176	T	C	T109735176C	FIG4	NM_014845.5(FIG4):c.524T>C:p.Leu175Pro	coding	Pathogenic
6	109735199	C	T	C109735199T	FIG4	NM_014845.5(FIG4):c.547C>T:p.Arg183Ter	coding	Pathogenic/Likely_pathogenic
6	109735279	A	G	A109735279G	FIG4	NM_014845.5(FIG4):c.627A>G:p.Leu209=	coding	Benign/Likely_benign
6	109738307	C	A	C109738307A	FIG4	NM_014845.5(FIG4):c.647-18C>A	noncoding	Benign
6	109738415	G	A	G109738415A	FIG4	NM_014845.5(FIG4):c.737G>A:p.Trp246Ter	coding	Pathogenic/Likely_pathogenic
6	109738751	G	A	G109738751A	FIG4	NM_014845.5(FIG4):c.775+298G>A	noncoding	Benign
6	109741461	C	T	C109741461T	FIG4	NM_014845.5(FIG4):c.793C>T:p.Arg265Ter	coding	Pathogenic
6	109741476	A	G	A109741476G	FIG4	NM_014845.5(FIG4):c.808A>G:p.Thr270Ala	coding	Benign/Likely_benign
6	109741670	T	G	T109741670G	FIG4	NM_014845.5(FIG4):c.876+126T>G	noncoding	Benign
6	109743725	A	T	A109743725T	FIG4	NM_014845.5(FIG4):c.1090A>T:p.Met364Leu	coding	Benign/Likely_benign
6	109760075	G	T	G109760075T	FIG4	NM_014845.5(FIG4):c.1138-175G>T	noncoding	Benign
6	109760253	C	T	C109760253T	FIG4	NM_014845.6(FIG4):c.1141C>T:p.Arg381Ter	coding	Pathogenic
6	109760319	C	T	C109760319T	FIG4	NM_014845.5(FIG4):c.1207C>T:p.Gln403Ter	coding	Pathogenic
6	109760354	T	C	T109760354C	FIG4	NM_014845.5(FIG4):c.1242T>C:p.Ile414=	coding	Benign
6	109760415	G	A	G109760415A	FIG4	NM_014845.5(FIG4):c.1271+32G>A	noncoding	Benign
6	109761853	C	T	C109761853T	FIG4	NM_014845.5(FIG4):c.1272-238C>T	noncoding	Benign
6	109766412	T	C	T109766412C	FIG4	NM_014845.5(FIG4):c.1584-317T>C	noncoding	Benign
6	109785008	T	A	T109785008A	FIG4	NM_014845.5(FIG4):c.1928T>A:p.Leu643Ter	coding	Pathogenic
6	109785031	A	G	A109785031G	FIG4	NM_014845.5(FIG4):c.1948+3A>G	noncoding	Benign
6	109785074	C	A	C109785074A	FIG4	NM_014845.5(FIG4):c.1948+46C>A	noncoding	Benign
6	109785994	G	A	G109785994A	FIG4	NM_014845.5(FIG4):c.1949-308G>A	noncoding	Benign
6	109786314	T	C	T109786314C	FIG4	NM_014845.5(FIG4):c.1961T>C:p.Val654Ala	coding	Benign
6	109789351	A	C	A109789351C	FIG4	NM_014845.5(FIG4):c.2097-243A>C	noncoding	Benign
6	109789740	G	T	G109789740T	FIG4	NM_014845.5(FIG4):c.2180+63G>T	noncoding	Benign
6	109791407	C	T	C109791407T	FIG4	NM_014845.5(FIG4):c.2212C>T:p.Gln738Ter	coding	Pathogenic
6	109791543	A	T	A109791543T	FIG4	NM_014845.5(FIG4):c.2348A>T:p.Asp783Val	coding	Pathogenic
6	109792563	T	C	T109792563C	FIG4	NM_014845.6(FIG4):c.2377-19T>C	noncoding	Benign
6	109792591	C	T	C109792591T	FIG4	NM_014845.5(FIG4):c.2386C>T:p.Gln796Ter	coding	Pathogenic
6	109792665	G	A	G109792665A	FIG4	NM_014845.5(FIG4):c.2459+1G>A	coding	Pathogenic/Likely_pathogenic
6	109796513	A	G	A109796513G	FIG4	NM_014845.5(FIG4):c.2460-252A>G	noncoding	Benign
6	109796772	C	T	C109796772T	FIG4	NM_014845.5(FIG4):c.2467C>T:p.Gln823Ter	coding	Pathogenic/Likely_pathogenic
6	109825100	G	A	G109825100A	FIG4	NM_014845.5(FIG4):c.2559G>A:p.Ser853=	coding	Benign
6	109825272	C	T	C109825272T	FIG4	NM_014845.5(FIG4):c.*7C>T	noncoding	Benign
6	109825279	C	T	C109825279T	FIG4	NM_014845.5(FIG4):c.*14C>T	noncoding	Benign/Likely_benign
6	109825294	G	A	G109825294A	FIG4	NM_014845.5(FIG4):c.*29G>A	noncoding	Benign
6	109825385	C	T	C109825385T	FIG4	NM_014845.5(FIG4):c.*120C>T	noncoding	Benign
6	109979086	C	T	C109979086T	GPR6	NM_001286099.1(GPR6):c.28-9C>T	noncoding	Benign
6	109979631	G	T	G109979631T	GPR6	NM_001286099.1(GPR6):c.564G>T:p.Ala188=	coding	Benign
6	110100644	G	A	G110100644A	WASF1	NM_003931.3(WASF1):c.1558C>T:p.Gln520Ter	coding	Pathogenic
6	110101594	G	A	G110101594A	WASF1	NM_003931.3(WASF1):c.1516C>T:p.Arg506Ter	coding	Pathogenic
6	110438737	C	T	C110438737T	SLC22A16	NM_033125.4(SLC22A16):c.1294G>A:p.Val432Ile	coding	Benign
6	110442539	G	C	G110442539C	SLC22A16	NM_033125.4(SLC22A16):c.888C>G:p.Leu296=	coding	Benign
6	110815043	A	G	A110815043G	CDK19	NM_015076.5(CDK19):c.94T>C:p.Tyr32His	coding	Pathogenic
6	110815055	C	G	C110815055G	CDK19	NM_015076.5(CDK19):c.82G>C:p.Gly28Arg	coding	Pathogenic
6	110815055	C	T	C110815055T	CDK19	NM_015076.5(CDK19):c.82G>A:p.Gly28Arg	coding	Pathogenic
6	110989049	G	A	G110989049A	RPF2	NM_032194.3(RPF2):c.178G>A:p.Gly60Ser	coding	Benign
6	111177285	T	C	T111177285C	SLC16A10	NM_018593.5(SLC16A10):c.562T>C:p.Leu188=	coding	Benign
6	111177461	G	C	G111177461C	SLC16A10	NM_018593.5(SLC16A10):c.738G>C:p.Leu246=	coding	Benign
6	111307505	A	G	A111307505G	REV3L	NM_001372078.1(REV3L):c.9108T>C:p.Tyr3036=	coding	Benign
6	111307527	C	T	C111307527T	REV3L	NM_001372078.1(REV3L):c.9086G>A:p.Arg3029Gln	coding	Benign
6	111307568	G	T	G111307568T	REV3L	NM_001372078.1(REV3L):c.9045C>A:p.Ile3015=	coding	Benign
6	111310105	C	T	C111310105T	REV3L	NM_001372078.1(REV3L):c.8796-6G>A	noncoding	Benign
6	111313342	T	G	T111313342G	REV3L	NM_001372078.1(REV3L):c.8604+10A>C	noncoding	Benign
6	111322635	C	T	C111322635T	REV3L	NM_001372078.1(REV3L):c.8285G>A:p.Arg2762Gln	coding	Benign
6	111343921	G	A	G111343921A	REV3L	NM_001372078.1(REV3L):c.7538+4C>T	noncoding	Benign
6	111367160	G	A	G111367160A	REV3L	NM_001372078.1(REV3L):c.6628C>T:p.Leu2210=	coding	Benign
6	111367450	T	C	T111367450C	REV3L	NM_001372078.1(REV3L):c.6338A>G:p.Tyr2113Cys	coding	Benign
6	111373060	C	T	C111373060T	REV3L	NM_001372078.1(REV3L):c.5295G>A:p.Gln1765=	coding	Benign
6	111373137	G	A	G111373137A	REV3L	NM_001372078.1(REV3L):c.5218C>T:p.Arg1740Cys	coding	Benign
6	111373192	A	G	A111373192G	REV3L	NM_001372078.1(REV3L):c.5163T>C:p.Gly1721=	coding	Benign
6	111373568	G	A	G111373568A	REV3L	NM_001372078.1(REV3L):c.4787C>T:p.Pro1596Leu	coding	Benign
6	111373705	T	C	T111373705C	REV3L	NM_001372078.1(REV3L):c.4650A>G:p.Pro1550=	coding	Benign
6	111373902	T	C	T111373902C	REV3L	NM_001372078.1(REV3L):c.4453A>G:p.Asn1485Asp	coding	Benign
6	111374101	A	G	A111374101G	REV3L	NM_001372078.1(REV3L):c.4254T>C:p.Asn1418=	coding	Benign
6	111374164	G	A	G111374164A	REV3L	NM_001372078.1(REV3L):c.4191C>T:p.Ile1397=	coding	Benign
6	111374321	A	T	A111374321T	REV3L	NM_001372078.1(REV3L):c.4034T>A:p.Met1345Lys	coding	Benign
6	111374376	T	C	T111374376C	REV3L	NM_002912.4(REV3L):c.3979A>G:p.Ile1327Val	coding	Benign/Likely_benign
6	111374428	C	A	C111374428A	REV3L	NM_001372078.1(REV3L):c.3927G>T:p.Gln1309His	coding	Benign
6	111374450	C	G	C111374450G	REV3L	NM_001372078.1(REV3L):c.3905G>C:p.Ser1302Thr	coding	Benign
6	111374660	T	A	T111374660A	REV3L	NM_001372078.1(REV3L):c.3695A>T:p.Lys1232Ile	coding	Benign
6	111374796	C	T	C111374796T	REV3L	NM_001372078.1(REV3L):c.3559G>A:p.Val1187Ile	coding	Benign
6	111375075	C	T	C111375075T	REV3L	NM_001372078.1(REV3L):c.3280G>A:p.Ala1094Thr	coding	Benign
6	111375229	T	C	T111375229C	REV3L	NM_001372078.1(REV3L):c.3126A>G:p.Pro1042=	coding	Benign
6	111375348	G	T	G111375348T	REV3L	NM_001372078.1(REV3L):c.3007C>A:p.Gln1003Lys	coding	Benign
6	111375409	A	G	A111375409G	REV3L	NM_001372078.1(REV3L):c.2946T>C:p.Asn982=	coding	Benign
6	111375502	A	G	A111375502G	REV3L	NM_001372078.1(REV3L):c.2853T>C:p.Ile951=	coding	Benign
6	111375736	C	T	C111375736T	REV3L	NM_001372078.1(REV3L):c.2619G>A:p.Leu873=	coding	Benign
6	111376084	C	A	C111376084A	REV3L	NM_001372078.1(REV3L):c.2271G>T:p.Val757=	coding	Benign
6	111376458	T	C	T111376458C	REV3L	NM_001372078.1(REV3L):c.1897A>G:p.Ser633Gly	coding	Benign
6	111376485	A	C	A111376485C	REV3L	NM_001372078.1(REV3L):c.1870T>G:p.Ser624Ala	coding	Benign
6	111376660	A	G	A111376660G	REV3L	NM_001372078.1(REV3L):c.1695T>C:p.Ala565=	coding	Benign
6	111377745	C	T	C111377745T	REV3L	NM_001372078.1(REV3L):c.1553G>A:p.Ser518Asn	coding	Benign
6	111380136	G	T	G111380136T	REV3L	NM_001372078.1(REV3L):c.1300C>A:p.Pro434Thr	coding	Benign
6	111380140	C	T	C111380140T	REV3L	NM_001372078.1(REV3L):c.1296G>A:p.Arg432=	coding	Benign
6	111387803	T	G	T111387803G	REV3L	NM_001372078.1(REV3L):c.1058A>C:p.Asn353Thr	coding	Benign
6	111388058	C	T	C111388058T	REV3L	NM_001372078.1(REV3L):c.890G>A:p.Ser297Asn	coding	Benign
6	111559489	G	A	G111559489A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1614C>T:p.Asn538=	coding	Benign
6	111559520	T	C	T111559520C	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1583A>G:p.His528Arg	coding	Benign
6	111559523	G	A	G111559523A	TRAF3IP2	NM_147200.3(TRAF3IP2):c.1607C>T:p.Thr536Ile	coding	Pathogenic
6	111566555	G	A	G111566555A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1365C>T:p.Thr455=	coding	Benign
6	111572899	G	T	G111572899T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1286C>A:p.Thr429Asn	coding	Pathogenic
6	111572952	T	A	T111572952A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1233A>T:p.Thr411=	coding	Benign
6	111580199	G	A	G111580199A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1020C>T:p.His340=	coding	Benign
6	111580250	G	T	G111580250T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.969C>A:p.His323Gln	coding	Benign
6	111580262	G	T	G111580262T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.957C>A:p.Ser319Arg	coding	Benign
6	111591438	G	T	G111591438T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.649C>A:p.Pro217Thr	coding	Benign
6	111591806	C	T	C111591806T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.281G>A:p.Ser94Asn	coding	Benign
6	111591867	G	A	G111591867A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.220C>T:p.Arg74Trp	coding	Benign
6	111591896	T	G	T111591896G	TRAF3IP2	NM_147686.4(TRAF3IP2):c.191A>C:p.His64Pro	coding	Benign
6	111592059	C	T	C111592059T	TRAF3IP2	NM_147686.4(TRAF3IP2):c.28G>A:p.Asp10Asn	coding	Benign
6	111661835	G	C	G111661835C	FYN	NM_002037.5(FYN):c.1518C>G:p.Asp506Glu	coding	Benign
6	111694367	G	A	G111694367A	FYN	NM_002037.5(FYN):c.1273+8C>T	noncoding	Benign
6	111694538	C	T	C111694538T	FYN	NM_002037.5(FYN):c.1120-10G>A	noncoding	Benign
6	111694620	G	T	G111694620T	FYN	NM_002037.5(FYN):c.1119+8C>A	noncoding	Benign
6	111696350	G	A	G111696350A	FYN	NM_002037.5(FYN):c.969C>T:p.His323=	coding	Benign
6	111719926	G	A	G111719926A	FYN	NM_002037.5(FYN):c.126C>T:p.Phe42=	coding	Benign
6	112054104	A	G	A112054104G	CCN6	NM_198239.2(CCN6):c.-254A>G	noncoding	Benign
6	112061014	T	C	T112061014C	CCN6	NM_198239.2(CCN6):c.72T>C:p.Thr24=	coding	Benign
6	112061020	A	T	A112061020T	CCN6	NM_198239.2(CCN6):c.78A>T:p.Pro26=	coding	Benign
6	112061098	C	A	C112061098A	CCN6	NM_198239.2(CCN6):c.156C>A:p.Cys52Ter	coding	Pathogenic
6	112061110	G	T	G112061110T	CCN6	NM_198239.2(CCN6):c.168G>T:p.Gln56His	coding	Benign
6	112061120	C	T	C112061120T	CCN6	NM_198239.2(CCN6):c.178C>T:p.Arg60Cys	coding	Benign
6	112061174	T	C	T112061174C	CCN6	NM_198239.2(CCN6):c.232T>C:p.Cys78Arg	coding	Pathogenic
6	112061175	G	A	G112061175A	CCN6	NM_198239.2(CCN6):c.233G>A:p.Cys78Tyr	coding	Pathogenic
6	112061179	C	T	C112061179T	CCN6	NM_198239.2(CCN6):c.237C>T:p.Ala79=	coding	Benign
6	112061190	G	A	G112061190A	CCN6	NM_198239.2(CCN6):c.248G>A:p.Gly83Glu	coding	Benign/Likely_benign
6	112061269	C	T	C112061269T	CCN6	NM_198239.2(CCN6):c.327C>T:p.Tyr109=	coding	Benign/Likely_benign
6	112064774	C	T	C112064774T	CCN6	NM_198239.2(CCN6):c.366C>T:p.Cys122=	coding	Benign
6	112064842	G	A	G112064842A	CCN6	NM_198239.2(CCN6):c.434G>A:p.Cys145Tyr	coding	Pathogenic
6	112064998	G	A	G112064998A	CCN6	NM_198239.1(CCN6):c.643+1G>A	coding	Pathogenic
6	112068198	G	C	G112068198C	CCN6	NM_198239.2(CCN6):c.590-7G>C	noncoding	Benign
6	112068329	T	A	T112068329A	CCN6	NM_198239.2(CCN6):c.714T>A:p.Cys238Ter	coding	Pathogenic
6	112069362	A	G	A112069362G	CCN6	NM_198239.2(CCN6):c.807A>G:p.Gln269=	coding	Benign
6	112069447	A	C	A112069447C	CCN6	NM_198239.2(CCN6):c.892A>C:p.Ile298Leu	coding	Benign
6	112069548	G	A	G112069548A	CCN6	NM_198239.2(CCN6):c.993G>A:p.Trp331Ter	coding	Pathogenic
6	112069555	T	C	T112069555C	CCN6	NM_198239.2(CCN6):c.1000T>C:p.Ser334Pro	coding	Pathogenic
6	112069565	G	A	G112069565A	CCN6	NM_198239.2(CCN6):c.1010G>A:p.Cys337Tyr	coding	Pathogenic
6	112109459	A	G	A112109459G	LAMA4	NM_001105206.3(LAMA4):c.5450T>C:p.Ile1817Thr	coding	Benign/Likely_benign
6	112109466	C	T	C112109466T	LAMA4	NM_001105206.3(LAMA4):c.5443G>A:p.Val1815Ile	coding	Benign
6	112109569	T	C	T112109569C	LAMA4	NM_001105206.3(LAMA4):c.5340A>G:p.Thr1780=	coding	Benign/Likely_benign
6	112109683	T	C	T112109683C	LAMA4	NM_001105206.3(LAMA4):c.5327-101A>G	noncoding	Benign
6	112114061	T	G	T112114061G	LAMA4	NM_001105206.3(LAMA4):c.5326+15A>C	noncoding	Benign
6	112114070	A	C	A112114070C	LAMA4	NM_001105206.3(LAMA4):c.5326+6T>G	noncoding	Benign
6	112114209	C	G	C112114209G	LAMA4	NM_001105206.3(LAMA4):c.5207-14G>C	noncoding	Benign/Likely_benign
6	112114593	G	C	G112114593C	LAMA4	NM_001105206.3(LAMA4):c.5206+70C>G	noncoding	Benign
6	112114604	G	T	G112114604T	LAMA4	NM_001105206.3(LAMA4):c.5206+59C>A	noncoding	Benign
6	112114709	A	T	A112114709T	LAMA4	NM_001105206.3(LAMA4):c.5160T>A:p.Val1720=	coding	Benign
6	112114922	C	T	C112114922T	LAMA4	NM_001105206.3(LAMA4):c.5113-166G>A	noncoding	Benign
6	112114995	G	T	G112114995T	LAMA4	NM_001105206.3(LAMA4):c.5113-239C>A	noncoding	Benign
6	112115618	G	A	G112115618A	LAMA4	NM_001105206.3(LAMA4):c.5112+245C>T	noncoding	Benign
6	112115959	A	T	A112115959T	LAMA4	NM_001105206.3(LAMA4):c.5016T>A:p.Ile1672=	coding	Benign/Likely_benign
6	112117901	G	A	G112117901A	LAMA4	NM_001105206.3(LAMA4):c.4822-3C>T	noncoding	Benign/Likely_benign
6	112118054	C	G	C112118054G	LAMA4	NM_001105206.3(LAMA4):c.4822-156G>C	noncoding	Benign
6	112118911	T	C	T112118911C	LAMA4	NM_001105206.3(LAMA4):c.4821+245A>G	noncoding	Benign
6	112118937	G	C	G112118937C	LAMA4	NM_001105206.3(LAMA4):c.4821+219C>G	noncoding	Benign
6	112118996	G	T	G112118996T	LAMA4	NM_001105206.3(LAMA4):c.4821+160C>A	noncoding	Benign
6	112119261	G	A	G112119261A	LAMA4	NM_001105206.3(LAMA4):c.4716C>T:p.Leu1572=	coding	Benign
6	112119286	C	A	C112119286A	LAMA4	NM_001105206.3(LAMA4):c.4691G>T:p.Ser1564Ile	coding	Benign/Likely_benign
6	112119588	C	T	C112119588T	LAMA4	NM_001105206.3(LAMA4):c.4666-277G>A	noncoding	Benign
6	112120268	C	T	C112120268T	LAMA4	NM_001105206.3(LAMA4):c.4665+15G>A	noncoding	Benign/Likely_benign
6	112120275	C	A	C112120275A	LAMA4	NM_001105206.3(LAMA4):c.4665+8G>T	noncoding	Benign/Likely_benign
6	112120302	T	C	T112120302C	LAMA4	NM_001105206.3(LAMA4):c.4646A>G:p.Asn1549Ser	coding	Benign
6	112120625	A	G	A112120625G	LAMA4	NM_001105206.3(LAMA4):c.4476-153T>C	noncoding	Benign
6	112121889	G	A	G112121889A	LAMA4	NM_001105206.3(LAMA4):c.4475+125C>T	noncoding	Benign
6	112121931	G	A	G112121931A	LAMA4	NM_001105206.3(LAMA4):c.4475+83C>T	noncoding	Benign
6	112122175	T	G	T112122175G	LAMA4	NM_001105206.3(LAMA4):c.4314A>C:p.Ser1438=	coding	Benign
6	112128711	C	T	C112128711T	LAMA4	NM_001105206.3(LAMA4):c.4287+211G>A	noncoding	Benign
6	112128907	G	A	G112128907A	LAMA4	NM_001105206.3(LAMA4):c.4287+15C>T	noncoding	Benign
6	112129036	A	G	A112129036G	LAMA4	NM_001105206.3(LAMA4):c.4173T>C:p.Tyr1391=	coding	Benign
6	112129149	G	C	G112129149C	LAMA4	NM_001105206.3(LAMA4):c.4134-74C>G	noncoding	Benign
6	112129318	T	C	T112129318C	LAMA4	NM_001105206.3(LAMA4):c.4134-243A>G	noncoding	Benign
6	112129944	G	A	G112129944A	LAMA4	NM_001105206.3(LAMA4):c.4065C>T:p.Phe1355=	coding	Benign
6	112131359	G	A	G112131359A	LAMA4	NM_001105206.3(LAMA4):c.3835-258C>T	noncoding	Benign
6	112132734	G	C	G112132734C	LAMA4	NM_001105206.3(LAMA4):c.3834+19C>G	noncoding	Benign
6	112133240	G	A	G112133240A	LAMA4	NM_001105206.3(LAMA4):c.3696+109C>T	noncoding	Benign
6	112135943	A	T	A112135943T	LAMA4	NM_001105206.3(LAMA4):c.3414+180T>A	noncoding	Benign
6	112135954	T	C	T112135954C	LAMA4	NM_001105206.3(LAMA4):c.3414+169A>G	noncoding	Benign
6	112136181	G	C	G112136181C	LAMA4	NM_001105206.3(LAMA4):c.3356C>G:p.Pro1119Arg	coding	Benign
6	112136188	C	T	C112136188T	LAMA4	NM_001105206.3(LAMA4):c.3349G>A:p.Gly1117Ser	coding	Benign
6	112136269	G	A	G112136269A	LAMA4	NM_001105206.3(LAMA4):c.3283-15C>T	noncoding	Benign
6	112139163	C	T	C112139163T	LAMA4	NM_001105206.3(LAMA4):c.3239G>A:p.Arg1080Gln	coding	Benign
6	112139339	G	A	G112139339A	LAMA4	NM_001105206.3(LAMA4):c.3111-48C>T	noncoding	Benign
6	112139446	G	A	G112139446A	LAMA4	NM_001105206.3(LAMA4):c.3111-155C>T	noncoding	Benign
6	112140887	G	A	G112140887A	LAMA4	NM_001105206.3(LAMA4):c.2849C>T:p.Pro950Leu	coding	Pathogenic
6	112141361	T	C	T112141361C	LAMA4	NM_001105206.3(LAMA4):c.2810A>G:p.Glu937Gly	coding	Benign/Likely_benign
6	112141680	G	A	G112141680A	LAMA4	NM_001105206.3(LAMA4):c.2668-177C>T	noncoding	Benign
6	112141874	T	C	T112141874C	LAMA4	NM_001105206.3(LAMA4):c.2667+245A>G	noncoding	Benign
6	112142131	G	A	G112142131A	LAMA4	NM_001105206.3(LAMA4):c.2655C>T:p.Leu885=	coding	Benign/Likely_benign
6	112142491	G	A	G112142491A	LAMA4	NM_001105206.3(LAMA4):c.2494-199C>T	noncoding	Benign
6	112144774	T	A	T112144774A	LAMA4	NM_001105206.3(LAMA4):c.2493+20A>T	noncoding	Benign
6	112144779	C	A	C112144779A	LAMA4	NM_001105206.3(LAMA4):c.2493+15G>T	noncoding	Benign/Likely_benign
6	112144884	C	T	C112144884T	LAMA4	NM_001105206.3(LAMA4):c.2403G>A:p.Thr801=	coding	Benign/Likely_benign
6	112147977	T	C	T112147977C	LAMA4	NM_001105206.3(LAMA4):c.2353+180A>G	noncoding	Benign
6	112148260	C	T	C112148260T	LAMA4	NM_001105206.3(LAMA4):c.2250G>A:p.Gln750=	coding	Benign/Likely_benign
6	112148284	G	A	G112148284A	LAMA4	NM_001105206.3(LAMA4):c.2226C>T:p.Asn742=	coding	Benign/Likely_benign
6	112148364	T	G	T112148364G	LAMA4	NM_001105206.3(LAMA4):c.2174-28A>C	noncoding	Benign
6	112148516	T	A	T112148516A	LAMA4	NM_001105206.3(LAMA4):c.2174-180A>T	noncoding	Benign
6	112150260	G	C	G112150260C	LAMA4	NM_001105206.3(LAMA4):c.2173+251C>G	noncoding	Benign
6	112150486	G	C	G112150486C	LAMA4	NM_001105206.3(LAMA4):c.2173+25C>G	noncoding	Benign
6	112150803	A	G	A112150803G	LAMA4	NM_001105206.3(LAMA4):c.2057-176T>C	noncoding	Benign
6	112154655	C	T	C112154655T	LAMA4	NM_001105206.3(LAMA4):c.2056+196G>A	noncoding	Benign
6	112154811	C	A	C112154811A	LAMA4	NM_001105206.3(LAMA4):c.2056+40G>T	noncoding	Benign
6	112155008	T	C	T112155008C	LAMA4	NM_001105206.3(LAMA4):c.1960-61A>G	noncoding	Benign
6	112155670	C	T	C112155670T	LAMA4	NM_001105206.3(LAMA4):c.1854G>A:p.Gln618=	coding	Benign/Likely_benign
6	112155703	C	T	C112155703T	LAMA4	NM_001105206.3(LAMA4):c.1821G>A:p.Lys607=	coding	Benign/Likely_benign
6	112155937	G	C	G112155937C	LAMA4	NM_001105206.3(LAMA4):c.1818-231C>G	noncoding	Benign
6	112158839	A	G	A112158839G	LAMA4	NM_001105206.3(LAMA4):c.1710T>C:p.Ser570=	coding	Benign
6	112165151	C	T	C112165151T	LAMA4	NM_001105206.3(LAMA4):c.1668+9G>A	noncoding	Benign/Likely_benign
6	112165181	T	G	T112165181G	LAMA4	NM_001105206.3(LAMA4):c.1647A>C:p.Ser549=	coding	Benign/Likely_benign
6	112165214	C	T	C112165214T	LAMA4	NM_001105206.3(LAMA4):c.1614G>A:p.Ala538=	coding	Benign/Likely_benign
6	112172603	C	T	C112172603T	LAMA4	NM_001105206.3(LAMA4):c.1551+8G>A	noncoding	Benign
6	112172670	A	G	A112172670G	LAMA4	NM_001105206.3(LAMA4):c.1492T>C:p.Tyr498His	coding	Benign
6	112175309	C	A	C112175309A	LAMA4	NM_001105206.3(LAMA4):c.1357+4G>T	noncoding	Benign
6	112175344	G	A	G112175344A	LAMA4	NM_001105206.3(LAMA4):c.1326C>T:p.Leu442=	coding	Benign/Likely_benign
6	112175488	G	C	G112175488C	LAMA4	NM_001105206.3(LAMA4):c.1190-8C>G	noncoding	Benign
6	112175645	G	A	G112175645A	LAMA4	NM_001105206.3(LAMA4):c.1190-165C>T	noncoding	Benign
6	112178043	G	A	G112178043A	LAMA4	NM_001105206.3(LAMA4):c.1189+78C>T	noncoding	Benign
6	112178152	C	T	C112178152T	LAMA4	NM_001105206.3(LAMA4):c.1158G>A:p.Glu386=	coding	Benign/Likely_benign
6	112185173	G	A	G112185173A	LAMA4	NM_001105206.3(LAMA4):c.1077+64C>T	noncoding	Benign
6	112185279	C	T	C112185279T	LAMA4	NM_001105206.3(LAMA4):c.1035G>A:p.Thr345=	coding	Benign/Likely_benign
6	112185294	G	A	G112185294A	LAMA4	NM_001105206.3(LAMA4):c.1020C>T:p.Asn340=	coding	Benign/Likely_benign
6	112185381	G	T	G112185381T	LAMA4	NM_001105206.3(LAMA4):c.967-34C>A	noncoding	Benign
6	112187306	T	A	T112187306A	LAMA4	NM_001105206.3(LAMA4):c.966+144A>T	noncoding	Benign
6	112187315	T	C	T112187315C	LAMA4	NM_001105206.3(LAMA4):c.966+135A>G	noncoding	Benign
6	112187372	G	C	G112187372C	LAMA4	NM_001105206.3(LAMA4):c.966+78C>G	noncoding	Benign
6	112187492	A	G	A112187492G	LAMA4	NM_001105206.3(LAMA4):c.924T>C:p.His308=	coding	Benign/Likely_benign
6	112187495	A	C	A112187495C	LAMA4	NM_001105206.3(LAMA4):c.921T>G:p.Ala307=	coding	Benign
6	112187528	G	A	G112187528A	LAMA4	NM_001105206.3(LAMA4):c.888C>T:p.Ser296=	coding	Benign
6	112187637	A	G	A112187637G	LAMA4	NM_001105206.3(LAMA4):c.815-36T>C	noncoding	Benign
6	112191703	G	A	G112191703A	LAMA4	NM_001105206.3(LAMA4):c.651C>T:p.Thr217=	coding	Benign
6	112191713	C	T	C112191713T	LAMA4	NM_001105206.3(LAMA4):c.641G>A:p.Arg214His	coding	Benign/Likely_benign
6	112191823	G	A	G112191823A	LAMA4	NM_001105206.3(LAMA4):c.531C>T:p.Pro177=	coding	Benign
6	112201515	C	A	C112201515A	LAMA4	NM_001105206.3(LAMA4):c.503+93G>T	noncoding	Benign
6	112201625	A	G	A112201625G	LAMA4	NM_001105206.3(LAMA4):c.486T>C:p.Ala162=	coding	Benign/Likely_benign
6	112201651	G	A	G112201651A	LAMA4	NM_001105206.3(LAMA4):c.460C>T:p.Arg154Trp	coding	Benign
6	112201655	A	T	A112201655T	LAMA4	NM_001105206.3(LAMA4):c.456T>A:p.Ala152=	coding	Benign/Likely_benign
6	112201692	A	C	A112201692C	LAMA4	NM_001105206.3(LAMA4):c.423-4T>G	noncoding	Benign
6	112201698	G	A	G112201698A	LAMA4	NM_001105206.3(LAMA4):c.423-10C>T	noncoding	Benign
6	112201890	G	A	G112201890A	LAMA4	NM_001105206.3(LAMA4):c.423-202C>T	noncoding	Benign
6	112206708	T	C	T112206708C	LAMA4	NM_001105206.3(LAMA4):c.422+313A>G	noncoding	Benign
6	112206709	G	A	G112206709A	LAMA4	NM_001105206.3(LAMA4):c.422+312C>T	noncoding	Benign
6	112206811	C	G	C112206811G	LAMA4	NM_001105206.3(LAMA4):c.422+210G>C	noncoding	Benign
6	112207001	C	A	C112207001A	LAMA4	NM_001105206.3(LAMA4):c.422+20G>T	noncoding	Benign
6	112207070	C	A	C112207070A	LAMA4	NM_001105206.3(LAMA4):c.373G>T:p.Ala125Ser	coding	Benign/Likely_benign
6	112207249	A	G	A112207249G	LAMA4	NM_001105206.3(LAMA4):c.298-104T>C	noncoding	Benign
6	112207280	A	G	A112207280G	LAMA4	NM_001105206.3(LAMA4):c.298-135T>C	noncoding	Benign
6	112207324	G	T	G112207324T	LAMA4	NM_001105206.3(LAMA4):c.298-179C>A	noncoding	Benign
6	112207358	T	A	T112207358A	LAMA4	NM_001105206.3(LAMA4):c.298-213A>T	noncoding	Benign
6	112207392	A	C	A112207392C	LAMA4	NM_001105206.3(LAMA4):c.298-247T>G	noncoding	Benign
6	112207412	A	G	A112207412G	LAMA4	NM_001105206.3(LAMA4):c.298-267T>C	noncoding	Benign
6	112214000	C	T	C112214000T	LAMA4	NM_001105206.3(LAMA4):c.297+2368G>A	noncoding	Benign
6	112216296	A	G	A112216296G	LAMA4	NM_001105206.3(LAMA4):c.297+72T>C	noncoding	Benign
6	112216360	C	T	C112216360T	LAMA4	NM_001105206.3(LAMA4):c.297+8G>A	noncoding	Benign/Likely_benign
6	112216385	C	T	C112216385T	LAMA4	NM_001105206.3(LAMA4):c.280G>A:p.Gly94Ser	coding	Benign
6	112216401	G	A	G112216401A	LAMA4	NM_001105206.3(LAMA4):c.264C>T:p.Ser88=	coding	Benign/Likely_benign
6	112216437	C	T	C112216437T	LAMA4	NM_001105206.3(LAMA4):c.228G>A:p.Ser76=	coding	Benign/Likely_benign
6	112216478	G	A	G112216478A	LAMA4	NM_001105206.3(LAMA4):c.196-9C>T	noncoding	Benign/Likely_benign
6	112216481	A	G	A112216481G	LAMA4	NM_001105206.3(LAMA4):c.196-12T>C	noncoding	Benign
6	112216660	A	G	A112216660G	LAMA4	NM_001105206.3(LAMA4):c.196-191T>C	noncoding	Benign
6	112216773	T	C	T112216773C	LAMA4	NM_001105206.3(LAMA4):c.196-304A>G	noncoding	Benign
6	112253812	A	G	A112253812G	LAMA4	NM_001105206.3(LAMA4):c.195+144T>C	coding	Benign
6	112254010	C	T	C112254010T	LAMA4	NM_001105206.3(LAMA4):c.141G>A:p.Pro47=	coding	Benign/Likely_benign
6	112254066	C	G	C112254066G	LAMA4	NM_001105206.3(LAMA4):c.85G>C:p.Asp29His	coding	Benign/Likely_benign
6	113860261	G	T	G113860261T	MARCKS	NM_002356.7(MARCKS):c.681G>T:p.Glu227Asp	coding	Benign
6	113860329	C	T	C113860329T	MARCKS	NM_002356.7(MARCKS):c.749C>T:p.Pro250Leu	coding	Benign
6	113946123	T	A	T113946123A	HDAC2	NM_001527.4(HDAC2):c.867A>T:p.Val289=	coding	Benign
6	113956702	G	T	G113956702T	HDAC2	NM_001527.4(HDAC2):c.284-9C>A	noncoding	Benign
6	113960025	T	C	T113960025C	HDAC2	NM_001527.4(HDAC2):c.53-7A>G	noncoding	Benign
6	116118967	C	T	C116118967T	COL10A1	NM_000493.4(COL10A1):c.*1106G>A	coding	Benign
6	116119031	T	C	T116119031C	COL10A1	NM_000493.4(COL10A1):c.*1042A>G	coding	Benign
6	116119047	C	T	C116119047T	COL10A1	NM_000493.4(COL10A1):c.*1026G>A	coding	Benign
6	116119048	G	A	G116119048A	COL10A1	NM_000493.4(COL10A1):c.*1025C>T	coding	Benign
6	116119283	A	C	A116119283C	COL10A1	NM_000493.4(COL10A1):c.*790T>G	coding	Benign
6	116119420	A	G	A116119420G	COL10A1	NM_000493.4(COL10A1):c.*653T>C	coding	Benign
6	116119657	C	T	C116119657T	COL10A1	NM_000493.4(COL10A1):c.*416G>A	coding	Benign
6	116119756	A	T	A116119756T	COL10A1	NM_000493.4(COL10A1):c.*317T>A	coding	Benign
6	116119758	T	A	T116119758A	COL10A1	NM_000493.4(COL10A1):c.*315A>T	coding	Benign
6	116119827	A	G	A116119827G	COL10A1	NM_000493.4(COL10A1):c.*246T>C	coding	Benign
6	116119877	A	G	A116119877G	COL10A1	NM_000493.4(COL10A1):c.*196T>C	coding	Benign
6	116119916	T	C	T116119916C	COL10A1	NM_000493.4(COL10A1):c.*157A>G	coding	Benign
6	116119922	G	T	G116119922T	COL10A1	NM_000493.4(COL10A1):c.*151C>A	coding	Benign
6	116120076	C	G	C116120076G	COL10A1	NM_000493.4(COL10A1):c.2040G>C:p.Met680Ile	coding	Benign/Likely_benign
6	116120163	C	T	C116120163T	COL10A1	NM_000493.4(COL10A1):c.1953G>A:p.Trp651Ter	coding	Pathogenic
6	116120165	A	G	A116120165G	COL10A1	NM_000493.4(COL10A1):c.1951T>C:p.Trp651Arg	coding	Pathogenic
6	116120220	G	T	G116120220T	COL10A1	NM_000493.4(COL10A1):c.1896C>A:p.Tyr632Ter	coding	Pathogenic
6	116120232	G	C	G116120232C	COL10A1	NM_000493.4(COL10A1):c.1884C>G:p.Tyr628Ter	coding	Pathogenic
6	116120241	A	G	A116120241G	COL10A1	NM_000493.4(COL10A1):c.1875T>C:p.Tyr625=	coding	Benign
6	116120265	A	G	A116120265G	COL10A1	NM_000493.4(COL10A1):c.1851T>C:p.Asn617=	coding	Benign/Likely_benign
6	116120275	A	G	A116120275G	COL10A1	NM_000493.4(COL10A1):c.1841T>C:p.Leu614Pro	coding	Pathogenic
6	116120284	C	T	C116120284T	COL10A1	NM_000493.4(COL10A1):c.1832G>A:p.Trp611Ter	coding	Pathogenic
6	116120307	C	G	C116120307G	COL10A1	NM_000493.4(COL10A1):c.1809G>C:p.Val603=	coding	Benign
6	116120310	G	A	G116120310A	COL10A1	NM_000493.4(COL10A1):c.1806C>T:p.His602=	coding	Benign/Likely_benign
6	116120318	A	G	A116120318G	COL10A1	NM_000493.4(COL10A1):c.1798T>C:p.Ser600Pro	coding	Pathogenic
6	116120324	A	C	A116120324C	COL10A1	NM_000493.4(COL10A1):c.1792T>G:p.Tyr598Asp	coding	Pathogenic
6	116120326	T	C	T116120326C	COL10A1	NM_000493.4(COL10A1):c.1790A>G:p.Tyr597Cys	coding	Pathogenic
6	116120332	C	T	C116120332T	COL10A1	NM_000493.4(COL10A1):c.1784G>A:p.Gly595Glu	coding	Pathogenic
6	116120345	A	G	A116120345G	COL10A1	NM_000493.4(COL10A1):c.1771T>C:p.Cys591Arg	coding	Pathogenic
6	116120483	C	G	C116120483G	COL10A1	NM_000493.4(COL10A1):c.1633G>C:p.Gly545Arg	coding	Benign
6	116120649	G	A	G116120649A	COL10A1	NM_000493.4(COL10A1):c.1467C>T:p.Thr489=	coding	Benign
6	116120766	A	G	A116120766G	COL10A1	NM_000493.4(COL10A1):c.1350T>C:p.Thr450=	coding	Benign
6	116120935	G	C	G116120935C	COL10A1	NM_000493.4(COL10A1):c.1181C>G:p.Pro394Arg	coding	Benign
6	116120969	C	T	C116120969T	COL10A1	NM_000493.4(COL10A1):c.1147G>A:p.Gly383Arg	coding	Benign
6	116121192	T	G	T116121192G	COL10A1	NM_000493.4(COL10A1):c.924A>C:p.Gly308=	coding	Benign
6	116121277	G	A	G116121277A	COL10A1	NM_000493.4(COL10A1):c.839C>T:p.Thr280Ile	coding	Benign
6	116121343	C	T	C116121343T	COL10A1	NM_000493.4(COL10A1):c.773G>A:p.Arg258Gln	coding	Benign
6	116121396	C	A	C116121396A	COL10A1	NM_000493.4(COL10A1):c.720G>T:p.Pro240=	coding	Benign
6	116121491	C	T	C116121491T	COL10A1	NM_000493.4(COL10A1):c.625G>A:p.Gly209Ser	coding	Benign
6	116121523	C	T	C116121523T	COL10A1	NM_000493.4(COL10A1):c.593G>A:p.Arg198His	coding	Benign/Likely_benign
6	116121734	C	T	C116121734T	COL10A1	NM_000493.4(COL10A1):c.382G>A:p.Asp128Asn	coding	Benign
6	116121843	T	C	T116121843C	COL10A1	NM_000493.4(COL10A1):c.273A>G:p.Gln91=	coding	Benign
6	116125326	C	G	C116125326G	COL10A1	NM_000493.4(COL10A1):c.154+13G>C	noncoding	Benign
6	116125343	A	T	A116125343T	COL10A1	NM_000493.4(COL10A1):c.150T>A:p.Ser50Arg	coding	Benign
6	116125413	A	G	A116125413G	COL10A1	NM_000493.4(COL10A1):c.80T>C:p.Met27Thr	coding	Benign
6	116125440	C	T	C116125440T	COL10A1	NM_000493.4(COL10A1):c.53G>A:p.Gly18Glu	coding	Pathogenic
6	116125441	C	T	C116125441T	COL10A1	NM_000493.4(COL10A1):c.52G>A:p.Gly18Arg	coding	Pathogenic
6	116125450	A	C	A116125450C	COL10A1	NM_000493.4(COL10A1):c.43T>G:p.Leu15Val	coding	Benign/Likely_benign
6	116125470	A	C	A116125470C	COL10A1	NM_000493.4(COL10A1):c.23T>G:p.Leu8Trp	coding	Benign/Likely_benign
6	116278696	T	C	T116278696C	TSPYL1	NM_003309.4(TSPYL1):c.1135A>G:p.Thr379Ala	coding	Benign
6	116279732	G	A	G116279732A	TSPYL1	NM_003309.4(TSPYL1):c.99C>T:p.Tyr33=	coding	Benign
6	116398966	T	A	T116398966A	DSE	NM_013352.4(DSE):c.-53-232T>A	noncoding	Benign
6	116399303	G	T	G116399303T	DSE	NM_013352.4(DSE):c.53G>T:p.Cys18Phe	coding	Benign
6	116399324	C	T	C116399324T	DSE	NM_013352.4(DSE):c.74C>T:p.Thr25Ile	coding	Benign
6	116399351	C	T	C116399351T	DSE	NM_013352.4(DSE):c.101C>T:p.Pro34Leu	coding	Benign
6	116399364	C	T	C116399364T	DSE	NM_013352.4(DSE):c.114C>T:p.Ala38=	coding	Benign/Likely_benign
6	116399459	G	A	G116399459A	DSE	NM_013352.4(DSE):c.209G>A:p.Arg70His	coding	Benign
6	116399466	G	A	G116399466A	DSE	NM_013352.4(DSE):c.216G>A:p.Thr72=	coding	Benign/Likely_benign
6	116430994	G	C	G116430994C	DSE	NM_013352.4(DSE):c.711G>C:p.Leu237=	coding	Benign/Likely_benign
6	116431082	A	G	A116431082G	DSE	NM_013352.4(DSE):c.799A>G:p.Arg267Gly	coding	Pathogenic
6	116431086	C	T	C116431086T	DSE	NM_013352.4(DSE):c.803C>T:p.Ser268Leu	coding	Pathogenic
6	116431127	A	G	A116431127G	DSE	NM_013352.4(DSE):c.844A>G:p.Ile282Val	coding	Benign
6	116433114	G	A	G116433114A	DSE	NM_013352.4(DSE):c.911-229G>A	noncoding	Benign
6	116433293	G	T	G116433293T	DSE	NM_013352.4(DSE):c.911-50G>T	noncoding	Benign
6	116433565	G	A	G116433565A	DSE	NM_013352.4(DSE):c.1118+15G>A	noncoding	Benign
6	116435610	T	C	T116435610C	DSE	NM_013352.4(DSE):c.1142T>C:p.Val381Ala	coding	Benign
6	116616634	C	G	C116616634G	RSPH4A	NM_001010892.3(RSPH4A):c.11C>G:p.Ser4Ter	coding	Pathogenic
6	116616739	C	A	C116616739A	RSPH4A	NM_001010892.3(RSPH4A):c.116C>A:p.Ser39Ter	coding	Pathogenic/Likely_pathogenic
6	116616767	G	A	G116616767A	RSPH4A	NM_001010892.3(RSPH4A):c.144G>A:p.Gly48=	coding	Benign/Likely_benign
6	116616948	C	T	C116616948T	RSPH4A	NM_001010892.3(RSPH4A):c.325C>T:p.Gln109Ter	coding	Pathogenic
6	116617069	C	G	C116617069G	RSPH4A	NM_001010892.3(RSPH4A):c.446C>G:p.Thr149Ser	coding	Benign
6	116617083	C	T	C116617083T	RSPH4A	NM_001010892.3(RSPH4A):c.460C>T:p.Gln154Ter	coding	Pathogenic
6	116622771	T	G	T116622771G	RSPH4A	NM_001010892.3(RSPH4A):c.690T>G:p.Tyr230Ter	coding	Pathogenic
6	116622812	G	A	G116622812A	RSPH4A	NM_001010892.3(RSPH4A):c.731G>A:p.Arg244His	coding	Benign/Likely_benign
6	116627775	G	A	G116627775A	RSPH4A	NM_001010892.3(RSPH4A):c.1068G>A:p.Trp356Ter	coding	Pathogenic
6	116627810	T	G	T116627810G	RSPH4A	NM_001010892.3(RSPH4A):c.1103T>G:p.Val368Gly	coding	Pathogenic
6	116628058	C	T	C116628058T	RSPH4A	NM_001010892.3(RSPH4A):c.1351C>T:p.Gln451Ter	coding	Pathogenic
6	116628098	G	A	G116628098A	RSPH4A	NM_001010892.3(RSPH4A):c.1391G>A:p.Gly464Glu	coding	Pathogenic
6	116628100	C	T	C116628100T	RSPH4A	NM_001010892.3(RSPH4A):c.1393C>T:p.Arg465Ter	coding	Pathogenic
6	116628160	C	T	C116628160T	RSPH4A	NM_001010892.3(RSPH4A):c.1453C>T:p.Arg485Ter	coding	Pathogenic
6	116628175	C	T	C116628175T	RSPH4A	NM_001010892.3(RSPH4A):c.1468C>T:p.Arg490Ter	coding	Pathogenic
6	116628196	G	A	G116628196A	RSPH4A	NM_001010892.3(RSPH4A):c.1489G>A:p.Val497Ile	coding	Benign/Likely_benign
6	116628243	G	A	G116628243A	RSPH4A	NM_001010892.3(RSPH4A):c.1536G>A:p.Glu512=	coding	Benign
6	116629571	G	A	G116629571A	RSPH4A	NM_001010892.3(RSPH4A):c.1667G>A:p.Arg556His	coding	Benign
6	116629594	C	T	C116629594T	RSPH4A	NM_001010892.3(RSPH4A):c.1690C>T:p.Gln564Ter	coding	Pathogenic
6	116629635	A	G	A116629635G	RSPH4A	NM_001010892.3(RSPH4A):c.1731A>G:p.Lys577=	coding	Benign/Likely_benign
6	116629670	T	C	T116629670C	RSPH4A	NM_001010892.3(RSPH4A):c.1766T>C:p.Leu589Pro	coding	Benign
6	116629713	G	A	G116629713A	RSPH4A	NM_001010892.3(RSPH4A):c.1798+11G>A	noncoding	Benign/Likely_benign
6	116630515	A	C	A116630515C	RSPH4A	NM_001010892.3(RSPH4A):c.1879A>C:p.Asn627His	coding	Benign
6	116630598	C	G	C116630598G	RSPH4A	NM_001010892.3(RSPH4A):c.1916+46C>G	noncoding	Benign
6	116632389	C	T	C116632389T	RSPH4A	NM_001010892.3(RSPH4A):c.2099C>T:p.Ala700Val	coding	Benign
6	116632449	A	G	A116632449G	RSPH4A	NM_001010892.3(RSPH4A):c.*8A>G	noncoding	Benign/Likely_benign
6	116632877	A	C	A116632877C	RSPH4A	NM_001010892.3(RSPH4A):c.*436A>C	noncoding	Benign
6	116632906	T	C	T116632906C	RSPH4A	NM_001010892.3(RSPH4A):c.*465T>C	noncoding	Benign
6	116792269	G	T	G116792269T	GPRC6A	NM_148963.4(GPRC6A):c.2654C>A:p.Ser885Tyr	coding	Benign
6	116877325	C	A	C116877325A	RFX6	NM_173560.4(RFX6):c.50C>A:p.Ala17Glu	coding	Benign
6	116877504	T	G	T116877504G	RFX6	NM_173560.4(RFX6):c.223+6T>G	noncoding	Benign
6	116877784	A	G	A116877784G	RFX6	NM_173560.4(RFX6):c.224-12A>G	noncoding	Pathogenic
6	116877954	T	C	T116877954C	RFX6	NM_173560.4(RFX6):c.380+2T>C	noncoding	Pathogenic
6	116882404	G	A	G116882404A	RFX6	NM_173560.4(RFX6):c.542G>A:p.Arg181Gln	coding	Pathogenic
6	116895184	T	C	T116895184C	RFX6	NM_173560.4(RFX6):c.649T>C:p.Ser217Pro	coding	Pathogenic
6	116895209	T	G	T116895209G	RFX6	NM_173560.4(RFX6):c.672+2T>G	noncoding	Pathogenic
6	116918049	G	A	G116918049A	RFX6	NM_173560.4(RFX6):c.985G>A:p.Val329Ile	coding	Benign
6	116920454	C	T	C116920454T	RFX6	NM_173560.4(RFX6):c.1327C>T:p.His443Tyr	coding	Benign
6	116922032	T	C	T116922032C	RFX6	NM_173560.4(RFX6):c.1328-10T>C	noncoding	Benign
6	116927307	C	T	C116927307T	RFX6	NM_173560.4(RFX6):c.2166C>T:p.Thr722=	coding	Benign
6	116927317	C	G	C116927317G	RFX6	NM_173560.4(RFX6):c.2176C>G:p.Arg726Gly	coding	Benign/Likely_benign
6	116927317	C	T	C116927317T	RFX6	NM_173560.4(RFX6):c.2176C>T:p.Arg726Ter	coding	Pathogenic
6	116928956	C	T	C116928956T	RFX6	NM_173560.4(RFX6):c.2596C>T:p.Arg866Ter	coding	Pathogenic
6	117268199	C	A	C117268199A	VGLL2	NM_182645.3(VGLL2):c.99C>A:p.Ser33=	coding	Benign
6	117268482	C	G	C117268482G	VGLL2	NM_182645.3(VGLL2):c.382C>G:p.Pro128Ala	coding	Benign
6	117270618	C	A	C117270618A	VGLL2	NM_182645.3(VGLL2):c.467C>A:p.Pro156Gln	coding	Benign
6	117288553	T	C	T117288553C	ROS1	NM_002944.2(ROS1):c.6983A>G:p.Lys2328Arg	coding	Benign
6	117310138	C	T	C117310138T	ROS1	NM_002944.2(ROS1):c.6377G>A:p.Arg2126Gln	coding	Benign
6	117317184	C	T	C117317184T	ROS1	NM_002944.2(ROS1):c.6094G>A:p.Gly2032Arg	coding	Pathogenic/Likely_pathogenic
6	117321332	C	T	C117321332T	ROS1	NM_002944.2(ROS1):c.5704G>A:p.Glu1902Lys	coding	Benign
6	117329320	C	T	C117329320T	ROS1	NM_002944.2(ROS1):c.5366+9G>A	noncoding	Benign
6	117329369	C	G	C117329369G	ROS1	NM_002944.2(ROS1):c.5326G>C:p.Asp1776His	coding	Benign
6	117341239	G	T	G117341239T	ROS1	NM_002944.2(ROS1):c.4975C>A:p.Pro1659Thr	coding	Benign
6	117344068	T	C	T117344068C	ROS1	NM_002944.2(ROS1):c.4516A>G:p.Arg1506Gly	coding	Benign
6	117344165	T	G	T117344165G	ROS1	NM_002944.2(ROS1):c.4419A>C:p.Thr1473=	coding	Benign
6	117356764	A	G	A117356764G	ROS1	NM_002944.2(ROS1):c.4006T>C:p.Leu1336=	coding	Benign
6	117356861	A	G	A117356861G	ROS1	NM_002944.2(ROS1):c.3909T>C:p.Ser1303=	coding	Benign
6	117359926	C	T	C117359926T	ROS1	NM_002944.2(ROS1):c.3531G>A:p.Thr1177=	coding	Benign
6	117360397	G	T	G117360397T	ROS1	NM_002944.2(ROS1):c.3390C>A:p.Ala1130=	coding	Benign
6	117362700	T	A	T117362700A	ROS1	NM_002944.2(ROS1):c.3284A>T:p.Asn1095Ile	coding	Benign
6	117365101	T	A	T117365101A	ROS1	NM_002944.2(ROS1):c.3077A>T:p.Lys1026Met	coding	Benign
6	117365730	A	G	A117365730G	ROS1	NM_002944.2(ROS1):c.2824T>C:p.Phe942Leu	coding	Benign
6	117366293	G	A	G117366293A	ROS1	NM_002944.2(ROS1):c.2598-3C>T	noncoding	Benign
6	117383437	C	G	C117383437G	ROS1	NM_002944.2(ROS1):c.2376G>C:p.Met792Ile	coding	Benign
6	117383444	T	C	T117383444C	ROS1	NM_002944.2(ROS1):c.2369A>G:p.Asn790Ser	coding	Benign
6	117385821	C	T	C117385821T	ROS1	NM_002944.2(ROS1):c.2166G>A:p.Thr722=	coding	Benign
6	117386995	A	G	A117386995G	ROS1	NM_002944.2(ROS1):c.2019T>C:p.Ser673=	coding	Benign
6	117387941	T	C	T117387941C	ROS1	NM_002944.2(ROS1):c.1853A>G:p.Asp618Gly	coding	Benign
6	117389728	T	C	T117389728C	ROS1	NM_002944.2(ROS1):c.1381A>G:p.Lys461Glu	coding	Benign
6	117394154	G	A	G117394154A	ROS1	NM_002944.2(ROS1):c.1164+8C>T	noncoding	Benign
6	117396185	T	C	T117396185C	ROS1	NM_002944.2(ROS1):c.856+3A>G	noncoding	Benign
6	117397024	G	A	G117397024A	ROS1	NM_002944.2(ROS1):c.670C>T:p.Pro224Ser	coding	Benign
6	117397055	G	A	G117397055A	ROS1	NM_002944.2(ROS1):c.639C>T:p.Val213=	coding	Benign
6	117409634	C	T	C117409634T	ROS1	NM_002944.2(ROS1):c.237G>A:p.Ser79=	coding	Benign
6	117675744	G	A	G117675744A	NUS1	NM_138459.5(NUS1):c.74G>A:p.Trp25Ter	coding	Pathogenic
6	117675774	G	A	G117675774A	NUS1	NM_138459.5(NUS1):c.104G>A:p.Trp35Ter	coding	Pathogenic
6	117675867	G	C	G117675867C	NUS1	NM_138459.5(NUS1):c.197G>C:p.Arg66Pro	coding	Benign
6	117676086	G	A	G117676086A	NUS1	NM_138459.5(NUS1):c.415+1G>A	coding	Pathogenic
6	117693069	T	A	T117693069A	NUS1	NM_138459.5(NUS1):c.443T>A:p.Leu148Ter	coding	Pathogenic
6	117693163	T	A	T117693163A	NUS1	NM_138459.5(NUS1):c.537T>A:p.Asp179Glu	coding	Benign
6	117703645	C	T	C117703645T	NUS1	NM_138459.5(NUS1):c.732C>T:p.Phe244=	coding	Benign
6	117703647	G	T	G117703647T	NUS1	NM_138459.5(NUS1):c.734G>T:p.Gly245Val	coding	Pathogenic
6	117703665	T	G	T117703665G	NUS1	NM_138459.5(NUS1):c.752T>G:p.Leu251Ter	coding	Pathogenic
6	118548260	A	C	A118548260C	PLN	NM_001042475.3(CEP85L):c.1020+17269T>G	noncoding	Benign
6	118558946	C	T	C118558946T	PLN	NM_002667.5(PLN):c.25C>T:p.Arg9Cys	coding	Pathogenic
6	118559006	C	T	C118559006T	PLN	NM_002667.5(PLN):c.85C>T:p.Gln29Ter	coding	Pathogenic
6	118559037	T	G	T118559037G	PLN	NM_002667.5(PLN):c.116T>G:p.Leu39Ter	coding	Pathogenic/Likely_pathogenic
6	118559477	T	G	T118559477G	PLN	NM_002667.5(PLN):c.*397T>G	coding	Benign
6	118632448	C	T	C118632448T	CEP85L	NM_001042475.3(CEP85L):c.232+5G>A	noncoding	Pathogenic/Likely_pathogenic
6	118632450	C	A	C118632450A	CEP85L	NM_001042475.3(CEP85L):c.232+3G>T	noncoding	Pathogenic/Likely_pathogenic
6	118632482	A	G	A118632482G	CEP85L	NM_001042475.3(CEP85L):c.203T>C:p.Ile68Thr	coding	Pathogenic/Likely_pathogenic
6	118632492	C	T	C118632492T	CEP85L	NM_001042475.3(CEP85L):c.193G>A:p.Asp65Asn	coding	Pathogenic/Likely_pathogenic
6	118651268	A	G	A118651268G	CEP85L	NM_001042475.3(CEP85L):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
6	118815033	G	A	G118815033A	MCM9	NM_017696.2(MCM9):c.3223C>T:p.Pro1075Ser	coding	Benign
6	118815355	C	T	C118815355T	MCM9	NM_017696.2(MCM9):c.2901G>A:p.Pro967=	coding	Benign
6	118815438	G	T	G118815438T	MCM9	NM_017696.2(MCM9):c.2818C>A:p.His940Asn	coding	Benign
6	118815808	T	G	T118815808G	MCM9	NM_017696.2(MCM9):c.2448A>C:p.Glu816Asp	coding	Benign
6	118816282	C	A	C118816282A	MCM9	NM_017696.2(MCM9):c.1974G>T:p.Gln658His	coding	Benign
6	118827925	A	G	A118827925G	MCM9	NM_017696.2(MCM9):c.1732+2T>C	noncoding	Pathogenic
6	118829055	T	A	T118829055A	MCM9	NM_017696.2(MCM9):c.1521A>T:p.Glu507Asp	coding	Benign
6	118829093	C	A	C118829093A	MCM9	NM_017696.2(MCM9):c.1483G>T:p.Glu495Ter	coding	Pathogenic
6	118856424	C	T	C118856424T	MCM9	NM_017696.2(MCM9):c.1272G>A:p.Arg424=	coding	Benign
6	118917715	G	A	G118917715A	MCM9	NM_017696.2(MCM9):c.750C>T:p.Pro250=	coding	Benign
6	118924035	T	C	T118924035C	MCM9	NM_017696.2(MCM9):c.397A>G:p.Thr133Ala	coding	Benign
6	118924038	G	A	G118924038A	MCM9	NM_017696.2(MCM9):c.394C>T:p.Arg132Ter	coding	Pathogenic
6	118931511	A	G	A118931511G	MCM9	NM_017696.2(MCM9):c.213T>C:p.Ser71=	coding	Benign
6	119179830	T	C	T119179830C	MAN1A1	NM_005907.4(MAN1A1):c.1951A>G:p.Arg651Gly	coding	Benign
6	119189674	A	G	A119189674G	MAN1A1	NM_005907.4(MAN1A1):c.1536T>C:p.Tyr512=	coding	Benign
6	119193769	T	C	T119193769C	MAN1A1	NM_005907.4(MAN1A1):c.1326+8A>G	noncoding	Benign
6	121080878	G	A	G121080878A	TBC1D32	NM_152730.6(TBC1D32):c.3667C>T:p.His1223Tyr	coding	Benign
6	121090968	G	A	G121090968A	TBC1D32	NM_152730.6(TBC1D32):c.3539C>T:p.Thr1180Ile	coding	Benign
6	121106155	A	C	A121106155C	TBC1D32	NM_152730.6(TBC1D32):c.3333T>G:p.Leu1111=	coding	Benign
6	121115163	A	T	A121115163T	TBC1D32	NM_152730.6(TBC1D32):c.3053+9T>A	noncoding	Benign
6	121160963	C	T	C121160963T	TBC1D32	NM_152730.6(TBC1D32):c.2664G>A:p.Pro888=	coding	Benign
6	121160964	G	A	G121160964A	TBC1D32	NM_152730.6(TBC1D32):c.2663C>T:p.Pro888Leu	coding	Benign
6	121242288	G	T	G121242288T	TBC1D32	NM_152730.6(TBC1D32):c.2070C>A:p.Thr690=	coding	Benign
6	121256124	G	A	G121256124A	TBC1D32	NM_152730.6(TBC1D32):c.1895C>T:p.Thr632Ile	coding	Benign
6	121292137	T	G	T121292137G	TBC1D32	NM_152730.6(TBC1D32):c.1288A>C:p.Ile430Leu	coding	Benign
6	121308062	G	C	G121308062C	TBC1D32	NM_152730.6(TBC1D32):c.604C>G:p.Pro202Ala	coding	Benign
6	121446870	G	T	G121446870T	GJA1	NM_000165.5(GJA1):c.23G>T:p.Gly8Val	coding	Pathogenic
6	121446878	C	T	C121446878T	GJA1	NM_000165.5(GJA1):c.31C>T:p.Leu11Phe	coding	Pathogenic
6	121446879	T	C	T121446879C	GJA1	NM_000165.5(GJA1):c.32T>C:p.Leu11Pro	coding	Pathogenic
6	121446897	A	C	A121446897C	GJA1	NM_000165.5(GJA1):c.50A>C:p.Tyr17Ser	coding	Pathogenic
6	121446899	T	C	T121446899C	GJA1	NM_000165.5(GJA1):c.52T>C:p.Ser18Pro	coding	Pathogenic
6	121446900	C	A	C121446900A	GJA1	NM_000165.5(GJA1):c.53C>A:p.Ser18Ter	coding	Pathogenic
6	121446908	G	A	G121446908A	GJA1	NM_000165.5(GJA1):c.61G>A:p.Gly21Arg	coding	Pathogenic
6	121446911	G	A	G121446911A	GJA1	NM_000165.5(GJA1):c.64G>A:p.Gly22Arg	coding	Pathogenic
6	121446922	G	C	G121446922C	GJA1	NM_000165.5(GJA1):c.75G>C:p.Trp25Cys	coding	Pathogenic/Likely_pathogenic
6	121446944	C	T	C121446944T	GJA1	NM_000165.5(GJA1):c.97C>T:p.Arg33Ter	coding	Pathogenic
6	121446966	C	T	C121446966T	GJA1	NM_000165.5(GJA1):c.119C>T:p.Ala40Val	coding	Pathogenic
6	121446978	C	T	C121446978T	GJA1	NM_000165.5(GJA1):c.131C>T:p.Ala44Val	coding	Pathogenic
6	121446987	A	T	A121446987T	GJA1	NM_000165.5(GJA1):c.140A>T:p.Asp47Val	coding	Pathogenic/Likely_pathogenic
6	121447074	G	A	G121447074A	GJA1	NM_000165.5(GJA1):c.227G>A:p.Arg76His	coding	Pathogenic
6	121447133	G	A	G121447133A	GJA1	NM_000165.5(GJA1):c.286G>A:p.Val96Met	coding	Pathogenic
6	121447153	G	C	G121447153C	GJA1	NM_000165.5(GJA1):c.306G>C:p.Lys102Asn	coding	Pathogenic
6	121447236	T	C	T121447236C	GJA1	NM_000165.5(GJA1):c.389T>C:p.Ile130Thr	coding	Pathogenic
6	121447259	G	A	G121447259A	GJA1	NM_000165.5(GJA1):c.412G>A:p.Gly138Ser	coding	Pathogenic
6	121447274	G	A	G121447274A	GJA1	NM_000165.5(GJA1):c.427G>A:p.Gly143Ser	coding	Pathogenic
6	121447287	T	C	T121447287C	GJA1	NM_000165.5(GJA1):c.440T>C:p.Met147Thr	coding	Pathogenic
6	121447428	A	C	A121447428C	GJA1	NM_000165.5(GJA1):c.581A>C:p.His194Pro	coding	Pathogenic
6	121447459	G	A	G121447459A	GJA1	NM_000165.5(GJA1):c.612G>A:p.Thr204=	coding	Benign/Likely_benign
6	121447464	A	G	A121447464G	GJA1	NM_000165.5(GJA1):c.617A>G:p.Lys206Arg	coding	Pathogenic
6	121447493	G	T	G121447493T	GJA1	NM_000165.5(GJA1):c.646G>T:p.Val216Leu	coding	Pathogenic
6	121447564	G	A	G121447564A	GJA1	NM_000165.5(GJA1):c.717G>A:p.Arg239=	coding	Benign/Likely_benign
6	121447605	C	T	C121447605T	GJA1	NM_000165.5(GJA1):c.758C>T:p.Ala253Val	coding	Benign/Likely_benign
6	121447684	G	A	G121447684A	GJA1	NM_000165.5(GJA1):c.837G>A:p.Ser279=	coding	Benign/Likely_benign
6	121447764	G	A	G121447764A	GJA1	NM_000165.5(GJA1):c.917G>A:p.Ser306Asn	coding	Pathogenic
6	121448169	G	A	G121448169A	GJA1	NM_000165.5(GJA1):c.*173G>A	noncoding	Benign
6	121448964	T	C	T121448964C	GJA1	NM_000165.5(GJA1):c.*968T>C	noncoding	Benign
6	121449318	A	T	A121449318T	GJA1	NM_000165.5(GJA1):c.*1322A>T	noncoding	Benign
6	121449729	C	T	C121449729T	GJA1	NM_000165.5(GJA1):c.*1733C>T	noncoding	Benign
6	122781134	G	A	G122781134A	FABP7	NM_001446.5(FABP7):c.288G>A:p.Gln96=	coding	Benign
6	122781200	T	C	T122781200C	FABP7	NM_001446.5(FABP7):c.348+6T>C	noncoding	Benign
6	123218759	C	T	C123218759T	TRDN	NM_006073.4(TRDN):c.2051-19G>A	noncoding	Benign
6	123252403	C	T	C123252403T	TRDN	NM_006073.4(TRDN):c.1975+9G>A	noncoding	Benign/Likely_benign
6	123255098	A	C	A123255098C	TRDN	NM_006073.4(TRDN):c.1934T>G:p.Leu645Ter	coding	Pathogenic
6	123255917	C	T	C123255917T	TRDN	NM_006073.4(TRDN):c.1871-15G>A	noncoding	Benign
6	123259515	C	T	C123259515T	TRDN	NM_006073.4(TRDN):c.1870+109G>A	noncoding	Benign
6	123260794	G	A	G123260794A	TRDN	NM_006073.4(TRDN):c.1805-156C>T	noncoding	Benign
6	123267961	C	T	C123267961T	TRDN	NM_006073.4(TRDN):c.1739-210G>A	noncoding	Benign
6	123269633	G	A	G123269633A	TRDN	NM_006073.4(TRDN):c.1738+216C>T	noncoding	Benign
6	123269870	T	C	T123269870C	TRDN	NM_006073.4(TRDN):c.1721-4A>G	noncoding	Benign
6	123272743	G	T	G123272743T	TRDN	NM_006073.4(TRDN):c.1672+221C>A	noncoding	Benign
6	123273341	T	C	T123273341C	TRDN	NM_006073.4(TRDN):c.1620A>G:p.Ile540Met	coding	Benign
6	123278360	A	C	A123278360C	TRDN	NM_006073.4(TRDN):c.1538-13T>G	noncoding	Benign/Likely_benign
6	123279026	G	A	G123279026A	TRDN	NM_006073.4(TRDN):c.1537+30C>T	noncoding	Benign
6	123279056	G	A	G123279056A	TRDN	NM_006073.4(TRDN):c.1537C>T:p.Gln513Ter	coding	Pathogenic
6	123279062	G	T	G123279062T	TRDN	NM_006073.4(TRDN):c.1531C>A:p.Pro511Thr	coding	Benign/Likely_benign
6	123316764	C	T	C123316764T	TRDN	NM_006073.4(TRDN):c.1472-269G>A	noncoding	Benign
6	123337526	T	C	T123337526C	TRDN	NM_006073.4(TRDN):c.1420+93A>G	noncoding	Benign
6	123337535	A	G	A123337535G	TRDN	NM_006073.4(TRDN):c.1420+84T>C	noncoding	Benign
6	123337631	G	T	G123337631T	TRDN	NM_006073.4(TRDN):c.1408C>A:p.Leu470Met	coding	Benign
6	123337664	T	A	T123337664A	TRDN	NM_006073.4(TRDN):c.1375A>T:p.Arg459Ter	coding	Pathogenic
6	123337680	G	T	G123337680T	TRDN	NM_006073.4(TRDN):c.1370-11C>A	noncoding	Benign
6	123337752	T	G	T123337752G	TRDN	NM_006073.4(TRDN):c.1370-83A>C	noncoding	Benign
6	123352310	G	T	G123352310T	TRDN	NM_006073.4(TRDN):c.1369+229C>A	coding	Benign
6	123366143	A	C	A123366143C	TRDN	NM_006073.4(TRDN):c.1313T>G:p.Ile438Ser	coding	Benign
6	123366143	A	T	A123366143T	TRDN	NM_006073.4(TRDN):c.1313T>A:p.Ile438Asn	coding	Benign
6	123366174	G	A	G123366174A	TRDN	NM_006073.4(TRDN):c.1282C>T:p.Arg428Ter	coding	Pathogenic/Likely_pathogenic
6	123366287	T	C	T123366287C	TRDN	NM_006073.4(TRDN):c.1274-105A>G	noncoding	Benign
6	123366472	T	G	T123366472G	TRDN	NM_006073.4(TRDN):c.1274-290A>C	noncoding	Benign
6	123375621	G	T	G123375621T	TRDN	NM_006073.4(TRDN):c.1257C>A:p.Asp419Glu	coding	Benign
6	123377399	G	A	G123377399A	TRDN	NM_006073.4(TRDN):c.1246+317C>T	noncoding	Benign
6	123377874	A	C	A123377874C	TRDN	NM_006073.4(TRDN):c.1211T>G:p.Val404Gly	coding	Benign
6	123377897	T	C	T123377897C	TRDN	NM_006073.4(TRDN):c.1188A>G:p.Lys396=	coding	Benign
6	123377900	T	C	T123377900C	TRDN	NM_006073.4(TRDN):c.1187-2A>G	noncoding	Pathogenic
6	123381354	G	A	G123381354A	TRDN	NM_006073.4(TRDN):c.1186+16C>T	noncoding	Benign
6	123393619	C	T	C123393619T	TRDN	NM_006073.4(TRDN):c.1105+5G>A	noncoding	Benign
6	123393633	C	T	C123393633T	TRDN	NM_006073.4(TRDN):c.1096G>A:p.Ala366Thr	coding	Benign
6	123437831	T	G	T123437831G	TRDN	NM_006073.4(TRDN):c.1051+232A>C	noncoding	Benign
6	123438098	C	T	C123438098T	TRDN	NM_006073.4(TRDN):c.1016G>A:p.Ser339Asn	coding	Benign
6	123438822	C	T	C123438822T	TRDN	NM_006073.4(TRDN):c.991+122G>A	noncoding	Benign
6	123439007	G	C	G123439007C	TRDN	NM_006073.4(TRDN):c.932-4C>G	noncoding	Benign
6	123439274	T	C	T123439274C	TRDN	NM_006073.4(TRDN):c.932-271A>G	noncoding	Benign
6	123465220	T	C	T123465220C	TRDN	NM_006073.4(TRDN):c.854-237A>G	noncoding	Benign
6	123465308	G	A	G123465308A	TRDN	NM_006073.4(TRDN):c.854-325C>T	noncoding	Benign
6	123496950	G	A	G123496950A	TRDN	NM_006073.4(TRDN):c.853+243C>T	noncoding	Benign
6	123497235	G	A	G123497235A	TRDN	NM_006073.4(TRDN):c.811C>T:p.Arg271Ter	coding	Pathogenic
6	123497435	A	G	A123497435G	TRDN	NM_006073.4(TRDN):c.794-183T>C	noncoding	Benign
6	123497483	G	C	G123497483C	TRDN	NM_006073.4(TRDN):c.794-231C>G	noncoding	Benign
6	123503899	G	A	G123503899A	TRDN	NM_006073.4(TRDN):c.613C>T:p.Gln205Ter	coding	Pathogenic
6	123504222	T	C	T123504222C	TRDN	NM_006073.4(TRDN):c.611-321A>G	noncoding	Benign
6	123512312	G	C	G123512312C	TRDN	NM_006073.4(TRDN):c.601C>G:p.Leu201Val	coding	Benign
6	123516043	T	G	T123516043G	TRDN	NM_006073.4(TRDN):c.550+98A>C	noncoding	Benign
6	123516162	T	A	T123516162A	TRDN	NM_006073.4(TRDN):c.529A>T:p.Lys177Ter	coding	Pathogenic
6	123516189	C	A	C123516189A	TRDN	NM_006073.4(TRDN):c.502G>T:p.Glu168Ter	coding	Pathogenic
6	123516472	A	G	A123516472G	TRDN	NM_006073.4(TRDN):c.485-266T>C	noncoding	Benign
6	123529048	C	T	C123529048T	TRDN	NM_006073.4(TRDN):c.484+1458G>A	coding	Benign
6	123529049	G	A	G123529049A	TRDN	NM_006073.4(TRDN):c.484+1457C>T	coding	Benign
6	123529585	A	G	A123529585G	TRDN	NM_006073.4(TRDN):c.484+921T>C	noncoding	Benign
6	123530302	T	A	T123530302A	TRDN	NM_006073.4(TRDN):c.484+204A>T	noncoding	Benign
6	123530393	G	C	G123530393C	TRDN	NM_006073.4(TRDN):c.484+113C>G	noncoding	Benign
6	123530445	G	A	G123530445A	TRDN	NM_006073.4(TRDN):c.484+61C>T	noncoding	Benign
6	123530465	G	A	G123530465A	TRDN	NM_006073.4(TRDN):c.484+41C>T	noncoding	Benign
6	123530560	G	A	G123530560A	TRDN	NM_006073.4(TRDN):c.430C>T:p.His144Tyr	coding	Benign
6	123530720	A	T	A123530720T	TRDN	NM_006073.4(TRDN):c.425-155T>A	noncoding	Benign
6	123547143	A	G	A123547143G	TRDN	NM_006073.4(TRDN):c.424+197T>C	noncoding	Benign
6	123547361	C	T	C123547361T	TRDN	NM_006073.4(TRDN):c.403G>A:p.Glu135Lys	coding	Benign
6	123547520	G	A	G123547520A	TRDN	NM_006073.4(TRDN):c.392-148C>T	noncoding	Benign
6	123548314	A	G	A123548314G	TRDN	NM_006073.4(TRDN):c.391+140T>C	noncoding	Benign
6	123548462	G	C	G123548462C	TRDN	NM_006073.4(TRDN):c.383C>G:p.Thr128Ser	coding	Benign
6	123548571	C	T	C123548571T	TRDN	NM_006073.4(TRDN):c.274G>A:p.Val92Ile	coding	Benign
6	123548761	G	T	G123548761T	TRDN	NM_006073.4(TRDN):c.233-149C>A	noncoding	Benign
6	123570737	G	A	G123570737A	TRDN	NM_006073.4(TRDN):c.232+186C>T	noncoding	Benign
6	123570856	G	A	G123570856A	TRDN	NM_006073.4(TRDN):c.232+67C>T	noncoding	Benign
6	123570979	G	C	G123570979C	TRDN	NM_006073.4(TRDN):c.176C>G:p.Thr59Arg	coding	Pathogenic
6	123571192	G	A	G123571192A	TRDN	NM_006073.4(TRDN):c.23-60C>T	noncoding	Benign
6	123571287	G	A	G123571287A	TRDN	NM_006073.4(TRDN):c.23-155C>T	noncoding	Benign
6	123571359	C	A	C123571359A	TRDN	NM_006073.4(TRDN):c.23-227G>T	noncoding	Benign
6	123571360	T	G	T123571360G	TRDN	NM_006073.4(TRDN):c.23-228A>C	noncoding	Benign
6	123636478	A	C	A123636478C	TRDN	NM_006073.4(TRDN):c.22+276T>G	noncoding	Benign
6	123636753	C	A	C123636753A	TRDN	NM_006073.4(TRDN):c.22+1G>T	noncoding	Pathogenic
6	123637234	G	C	G123637234C	TRDN	NC_000006.12:g.123637234G>C	noncoding	Benign
6	123637348	T	G	T123637348G	TRDN	NC_000006.12:g.123637348T>G	noncoding	Benign
6	124283055	A	G	A124283055G	NKAIN2	NM_001040214.3(NKAIN2):c.105A>G:p.Ala35=	coding	Benign
6	125752066	T	G	T125752066G	HEY2	NM_012259.3(HEY2):c.222T>G:p.Leu74=	coding	Benign
6	125752098	A	T	A125752098T	HEY2	NM_012259.3(HEY2):c.246+8A>T	noncoding	Benign
6	127287583	G	A	G127287583A	RNF146	NM_001242849.1(RNF146):c.970G>A:p.Asp324Asn	coding	Benign
6	127516348	C	T	C127516348T	SOGA3	NM_001012279.3(SOGA3):c.267G>A:p.Thr89=	coding	Benign
6	127516468	C	G	C127516468G	SOGA3	NM_001012279.3(SOGA3):c.147G>C:p.Ser49=	coding	Benign
6	127855173	A	G	A127855173G	THEMIS	NM_001164685.1(THEMIS):c.107T>C:p.Met36Thr	coding	Benign
6	127981272	G	C	G127981272C	PTPRK	NM_002844.4(PTPRK):c.3555C>G:p.Thr1185=	coding	Benign
6	128083730	G	A	G128083730A	PTPRK	NM_002844.4(PTPRK):c.1560C>T:p.Ile520=	coding	Benign
6	128089790	G	A	G128089790A	PTPRK	NM_002844.4(PTPRK):c.1365C>T:p.Asn455=	coding	Benign
6	128322049	T	C	T128322049C	PTPRK	NM_002844.4(PTPRK):c.485A>G:p.Asn162Ser	coding	Benign
6	128883174	G	A	G128883174A	LAMA2	NM_000426.3(LAMA2):c.-72G>A	noncoding	Benign
6	128883247	T	C	T128883247C	LAMA2	NM_000426.3(LAMA2):c.2T>C:p.Met1Thr	coding	Pathogenic
6	128883358	G	A	G128883358A	LAMA2	NM_000426.3(LAMA2):c.112+1G>A	coding	Pathogenic/Likely_pathogenic
6	128883358	G	C	G128883358C	LAMA2	NM_000426.4(LAMA2):c.112+1G>C	coding	Pathogenic
6	129049961	C	T	C129049961T	LAMA2	NM_000426.3(LAMA2):c.156C>T:p.Ile52=	coding	Benign
6	129049989	G	T	G129049989T	LAMA2	NM_000426.3(LAMA2):c.184G>T:p.Gly62Ter	coding	Pathogenic
6	129050088	C	T	C129050088T	LAMA2	NM_000426.3(LAMA2):c.283C>T:p.Gln95Ter	coding	Pathogenic/Likely_pathogenic
6	129050089	G	A	G129050089A	LAMA2	NM_000426.3(LAMA2):c.283+1G>A	coding	Pathogenic/Likely_pathogenic
6	129050388	G	A	G129050388A	LAMA2	NM_000426.3(LAMA2):c.283+300G>A	noncoding	Benign
6	129059653	C	T	C129059653T	LAMA2	NM_000426.3(LAMA2):c.284-131C>T	noncoding	Benign
6	129059699	A	G	A129059699G	LAMA2	NM_000426.3(LAMA2):c.284-85A>G	noncoding	Benign
6	129059827	G	A	G129059827A	LAMA2	NM_000426.4(LAMA2):c.327G>A:p.Trp109Ter	coding	Pathogenic
6	129059829	G	A	G129059829A	LAMA2	NM_000426.3(LAMA2):c.329G>A:p.Trp110Ter	coding	Pathogenic/Likely_pathogenic
6	129059863	C	A	C129059863A	LAMA2	NM_000426.3(LAMA2):c.363C>A:p.Tyr121Ter	coding	Pathogenic
6	129059881	C	A	C129059881A	LAMA2	NM_000426.3(LAMA2):c.381C>A:p.Thr127=	coding	Benign
6	129059891	C	T	C129059891T	LAMA2	NM_000426.3(LAMA2):c.391C>T:p.Gln131Ter	coding	Pathogenic
6	129059897	G	T	G129059897T	LAMA2	NM_000426.3(LAMA2):c.396+1G>T	coding	Pathogenic
6	129059904	T	A	T129059904A	LAMA2	NM_000426.3(LAMA2):c.396+8T>A	noncoding	Benign
6	129098274	G	A	G129098274A	LAMA2	NM_000426.3(LAMA2):c.498G>A:p.Trp166Ter	coding	Pathogenic/Likely_pathogenic
6	129098299	G	T	G129098299T	LAMA2	NM_000426.3(LAMA2):c.523G>T:p.Glu175Ter	coding	Pathogenic
6	129143875	G	A	G129143875A	LAMA2	NM_000426.3(LAMA2):c.640-26G>A	noncoding	Benign
6	129143936	C	T	C129143936T	LAMA2	NM_000426.3(LAMA2):c.675C>T:p.Ala225=	coding	Benign/Likely_benign
6	129143989	T	C	T129143989C	LAMA2	NM_000426.3(LAMA2):c.728T>C:p.Leu243Pro	coding	Pathogenic
6	129144078	A	T	A129144078T	LAMA2	NM_000426.3(LAMA2):c.817A>T:p.Arg273Ter	coding	Pathogenic
6	129144082	T	C	T129144082C	LAMA2	NM_000426.3(LAMA2):c.819+2T>C	noncoding	Pathogenic
6	129144277	G	A	G129144277A	LAMA2	NM_000426.3(LAMA2):c.819+197G>A	noncoding	Benign
6	129146967	C	G	C129146967G	LAMA2	NM_000426.3(LAMA2):c.828C>G:p.Tyr276Ter	coding	Pathogenic
6	129147143	A	T	A129147143T	LAMA2	NM_000426.3(LAMA2):c.909+95A>T	noncoding	Benign
6	129148668	C	A	C129148668A	LAMA2	NM_000426.3(LAMA2):c.910-311C>A	noncoding	Benign
6	129154501	G	A	G129154501A	LAMA2	NM_000426.3(LAMA2):c.1028-4G>A	noncoding	Benign
6	129154694	C	T	C129154694T	LAMA2	NM_000426.3(LAMA2):c.1206+11C>T	noncoding	Benign/Likely_benign
6	129165660	A	T	A129165660T	LAMA2	NM_000426.3(LAMA2):c.1291A>T:p.Lys431Ter	coding	Pathogenic
6	129165669	C	T	C129165669T	LAMA2	NM_000426.3(LAMA2):c.1300C>T:p.Arg434Ter	coding	Pathogenic
6	129165672	C	T	C129165672T	LAMA2	NM_000426.3(LAMA2):c.1303C>T:p.Arg435Ter	coding	Pathogenic/Likely_pathogenic
6	129165768	T	C	T129165768C	LAMA2	NM_000426.3(LAMA2):c.1306+93T>C	noncoding	Benign
6	129177591	A	C	A129177591C	LAMA2	NM_000426.3(LAMA2):c.1307-115A>C	noncoding	Benign
6	129177802	C	G	C129177802G	LAMA2	NM_000426.3(LAMA2):c.1403C>G:p.Ala468Gly	coding	Benign/Likely_benign
6	129177867	G	T	G129177867T	LAMA2	NM_000426.3(LAMA2):c.1467+1G>T	coding	Pathogenic
6	129177868	T	C	T129177868C	LAMA2	NM_000426.3(LAMA2):c.1467+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	129190228	T	C	T129190228C	LAMA2	NM_000426.3(LAMA2):c.1491T>C:p.Cys497=	coding	Benign/Likely_benign
6	129190270	T	C	T129190270C	LAMA2	NM_000426.3(LAMA2):c.1533T>C:p.Asn511=	coding	Benign
6	129190272	G	A	G129190272A	LAMA2	NM_000426.4(LAMA2):c.1535G>A:p.Trp512Ter	coding	Pathogenic
6	129190323	G	A	G129190323A	LAMA2	NM_000426.4(LAMA2):c.1586G>A	coding	Benign/Likely_benign
6	129192772	C	T	C129192772T	LAMA2	NM_000426.3(LAMA2):c.1701C>T:p.Ile567=	coding	Benign/Likely_benign
6	129192842	C	T	C129192842T	LAMA2	NM_000426.3(LAMA2):c.1771C>T:p.Leu591=	coding	Benign
6	129249855	C	G	C129249855G	LAMA2	NM_000426.3(LAMA2):c.1783-257C>G	noncoding	Benign
6	129250127	G	A	G129250127A	LAMA2	NM_000426.3(LAMA2):c.1798G>A:p.Gly600Arg	coding	Benign/Likely_benign
6	129250185	G	A	G129250185A	LAMA2	NM_000426.3(LAMA2):c.1856G>A:p.Arg619His	coding	Benign
6	129250343	A	T	A129250343T	LAMA2	NM_000426.3(LAMA2):c.1884+130A>T	noncoding	Benign
6	129252129	C	G	C129252129G	LAMA2	NM_000426.3(LAMA2):c.1930C>G:p.His644Asp	coding	Benign/Likely_benign
6	129260698	T	C	T129260698C	LAMA2	NM_000426.3(LAMA2):c.2097-13T>C	noncoding	Benign
6	129260801	G	C	G129260801C	LAMA2	NM_000426.3(LAMA2):c.2187G>C:p.Gly729=	coding	Benign/Likely_benign
6	129267127	C	T	C129267127T	LAMA2	NM_000426.3(LAMA2):c.2230C>T:p.Arg744Ter	coding	Pathogenic
6	129270370	C	T	C129270370T	LAMA2	NM_000426.3(LAMA2):c.2323-254C>T	noncoding	Benign
6	129270606	T	A	T129270606A	LAMA2	NM_000426.3(LAMA2):c.2323-18T>A	noncoding	Benign/Likely_benign
6	129270653	T	G	T129270653G	LAMA2	NM_000426.3(LAMA2):c.2352T>G:p.Tyr784Ter	coding	Pathogenic
6	129270731	A	C	A129270731C	LAMA2	NM_000426.3(LAMA2):c.2430A>C:p.Pro810=	coding	Benign/Likely_benign
6	129279817	G	A	G129279817A	LAMA2	NM_000426.3(LAMA2):c.2451-244G>A	noncoding	Benign
6	129280059	A	G	A129280059G	LAMA2	NM_000426.3(LAMA2):c.2451-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	129280071	A	C	A129280071C	LAMA2	NM_000426.4(LAMA2):c.2461A>C:p.Thr821Pro	coding	Pathogenic/Likely_pathogenic
6	129287869	C	T	C129287869T	LAMA2	NM_000426.3(LAMA2):c.2560C>T:p.Gln854Ter	coding	Pathogenic
6	129287895	T	A	T129287895A	LAMA2	NM_000426.4(LAMA2):c.2586T>A:p.Cys862Ter	coding	Pathogenic
6	129288059	G	C	G129288059C	LAMA2	NM_000426.3(LAMA2):c.2749+1G>C	coding	Pathogenic
6	129288092	T	C	T129288092C	LAMA2	NM_000426.3(LAMA2):c.2749+34T>C	noncoding	Benign
6	129291376	A	G	A129291376G	LAMA2	NM_000426.3(LAMA2):c.2750-238A>G	noncoding	Benign
6	129291418	G	T	G129291418T	LAMA2	NM_000426.3(LAMA2):c.2750-196G>T	noncoding	Benign
6	129291479	C	T	C129291479T	LAMA2	NM_000426.3(LAMA2):c.2750-135C>T	noncoding	Benign
6	129291613	G	C	G129291613C	LAMA2	NM_000426.3(LAMA2):c.2750-1G>C	noncoding	Pathogenic
6	129291620	G	T	G129291620T	LAMA2	NM_000426.3(LAMA2):c.2756G>T:p.Arg919Leu	coding	Benign/Likely_benign
6	129291663	A	G	A129291663G	LAMA2	NM_000426.3(LAMA2):c.2799A>G:p.Gln933=	coding	Benign
6	129291700	C	T	C129291700T	LAMA2	NM_000426.3(LAMA2):c.2836C>T:p.Gln946Ter	coding	Pathogenic
6	129297729	C	A	C129297729A	LAMA2	NM_000426.3(LAMA2):c.2901C>A:p.Cys967Ter	coding	Pathogenic
6	129297790	C	T	C129297790T	LAMA2	NM_000426.3(LAMA2):c.2962C>T:p.Gln988Ter	coding	Pathogenic/Likely_pathogenic
6	129297914	G	A	G129297914A	LAMA2	NM_000426.3(LAMA2):c.3037+49G>A	noncoding	Benign
6	129298005	G	A	G129298005A	LAMA2	NM_000426.3(LAMA2):c.3037+140G>A	noncoding	Benign
6	129300441	A	G	A129300441G	LAMA2	NM_000426.3(LAMA2):c.3038-295A>G	noncoding	Benign
6	129300580	A	G	A129300580G	LAMA2	NM_000426.3(LAMA2):c.3038-156A>G	noncoding	Benign
6	129300783	C	T	C129300783T	LAMA2	NM_000426.3(LAMA2):c.3085C>T:p.Arg1029Ter	coding	Pathogenic
6	129300910	A	G	A129300910G	LAMA2	NM_000426.3(LAMA2):c.3174+38A>G	noncoding	Benign
6	129301112	A	G	A129301112G	LAMA2	NM_000426.3(LAMA2):c.3174+240A>G	noncoding	Benign
6	129312899	A	G	A129312899G	LAMA2	NM_000426.3(LAMA2):c.3213A>G:p.Gln1071=	coding	Benign
6	129312923	C	A	C129312923A	LAMA2	NM_000426.3(LAMA2):c.3237C>A:p.Cys1079Ter	coding	Pathogenic
6	129312969	C	T	C129312969T	LAMA2	NM_000426.3(LAMA2):c.3283C>T:p.Arg1095Ter	coding	Pathogenic/Likely_pathogenic
6	129312982	A	G	A129312982G	LAMA2	NM_000426.3(LAMA2):c.3296A>G:p.Asn1099Ser	coding	Benign/Likely_benign
6	129313110	G	A	G129313110A	LAMA2	NM_000426.3(LAMA2):c.3411+13G>A	noncoding	Benign
6	129313281	G	A	G129313281A	LAMA2	NM_000426.3(LAMA2):c.3411+184G>A	noncoding	Benign
6	129314655	G	A	G129314655A	LAMA2	NM_000426.3(LAMA2):c.3412G>A:p.Val1138Met	coding	Benign
6	129315461	T	G	T129315461G	LAMA2	NM_000426.3(LAMA2):c.3556-15T>G	noncoding	Benign/Likely_benign
6	129315533	A	G	A129315533G	LAMA2	NM_000426.3(LAMA2):c.3613A>G:p.Thr1205Ala	coding	Benign
6	129315638	C	T	C129315638T	LAMA2	NM_000426.3(LAMA2):c.3718C>T:p.Gln1240Ter	coding	Pathogenic/Likely_pathogenic
6	129315855	C	T	C129315855T	LAMA2	NM_000426.3(LAMA2):c.3829C>T:p.Arg1277Ter	coding	Pathogenic
6	129315952	T	C	T129315952C	LAMA2	NM_000426.3(LAMA2):c.3924+2T>C	noncoding	Pathogenic
6	129316032	T	A	T129316032A	LAMA2	NM_000426.3(LAMA2):c.3925-6T>A	noncoding	Benign/Likely_benign
6	129316041	G	T	G129316041T	LAMA2	NM_000426.4(LAMA2):c.3928G>T:p.Glu1310Ter	coding	Pathogenic
6	129316068	C	T	C129316068T	LAMA2	NM_000426.3(LAMA2):c.3955C>T:p.Arg1319Ter	coding	Pathogenic
6	129316089	C	T	C129316089T	LAMA2	NM_000426.3(LAMA2):c.3976C>T:p.Arg1326Ter	coding	Pathogenic
6	129316115	T	G	T129316115G	LAMA2	NM_000426.3(LAMA2):c.4002T>G:p.Tyr1334Ter	coding	Pathogenic/Likely_pathogenic
6	129316161	C	T	C129316161T	LAMA2	NM_000426.3(LAMA2):c.4048C>T:p.Arg1350Ter	coding	Pathogenic
6	129328299	C	T	C129328299T	LAMA2	NM_000426.3(LAMA2):c.4198C>T:p.Arg1400Ter	coding	Pathogenic/Likely_pathogenic
6	129342126	T	C	T129342126C	LAMA2	NM_000426.3(LAMA2):c.4312-217T>C	noncoding	Benign
6	129342342	G	C	G129342342C	LAMA2	NM_000426.4(LAMA2):c.4312-1G>C	noncoding	Pathogenic
6	129342379	C	T	C129342379T	LAMA2	NM_000426.3(LAMA2):c.4348C>T:p.Arg1450Ter	coding	Pathogenic/Likely_pathogenic
6	129349293	T	A	T129349293A	LAMA2	NM_000426.3(LAMA2):c.4437-5T>A	noncoding	Benign/Likely_benign
6	129349331	C	T	C129349331T	LAMA2	NM_000426.3(LAMA2):c.4470C>T:p.Asp1490=	coding	Benign/Likely_benign
6	129349385	G	A	G129349385A	LAMA2	NM_000426.3(LAMA2):c.4523+1G>A	coding	Pathogenic/Likely_pathogenic
6	129349403	C	T	C129349403T	LAMA2	NM_000426.3(LAMA2):c.4523+19C>T	noncoding	Benign
6	129353285	C	T	C129353285T	LAMA2	NM_000426.3(LAMA2):c.4645C>T:p.Arg1549Ter	coding	Pathogenic
6	129353358	G	T	G129353358T	LAMA2	NM_000426.3(LAMA2):c.4717+1G>T	coding	Pathogenic/Likely_pathogenic
6	129365965	C	G	C129365965G	LAMA2	NM_000426.3(LAMA2):c.4718-254C>G	noncoding	Benign
6	129366251	G	A	G129366251A	LAMA2	NM_000426.3(LAMA2):c.4750G>A:p.Gly1584Ser	coding	Benign/Likely_benign
6	129366304	G	A	G129366304A	LAMA2	NM_000426.3(LAMA2):c.4803G>A:p.Pro1601=	coding	Benign
6	129369833	G	A	G129369833A	LAMA2	NM_000426.3(LAMA2):c.4861-59G>A	noncoding	Benign
6	129369907	C	T	C129369907T	LAMA2	NM_000426.3(LAMA2):c.4876C>T:p.Gln1626Ter	coding	Pathogenic
6	129369966	C	A	C129369966A	LAMA2	NM_000426.3(LAMA2):c.4935C>A:p.Thr1645=	coding	Benign/Likely_benign
6	129369967	G	T	G129369967T	LAMA2	NM_000426.4(LAMA2):c.4936G>T:p.Glu1646Ter	coding	Pathogenic
6	129369987	C	G	C129369987G	LAMA2	NM_000426.3(LAMA2):c.4956C>G:p.Thr1652=	coding	Benign
6	129383212	G	T	G129383212T	LAMA2	NM_000426.3(LAMA2):c.5050G>T:p.Glu1684Ter	coding	Pathogenic/Likely_pathogenic
6	129383251	A	G	A129383251G	LAMA2	NM_000426.3(LAMA2):c.5071+18A>G	noncoding	Benign
6	129383444	C	T	C129383444T	LAMA2	NM_000426.3(LAMA2):c.5071+211C>T	noncoding	Benign
6	129391204	G	A	G129391204A	LAMA2	NM_000426.3(LAMA2):c.5072-287G>A	noncoding	Benign
6	129391493	G	C	G129391493C	LAMA2	NM_000426.3(LAMA2):c.5074G>C:p.Val1692Leu	coding	Benign
6	129391535	C	T	C129391535T	LAMA2	NM_000426.3(LAMA2):c.5116C>T:p.Arg1706Ter	coding	Pathogenic
6	129391540	C	T	C129391540T	LAMA2	NM_000426.3(LAMA2):c.5121C>T:p.Asp1707=	coding	Benign/Likely_benign
6	129391559	T	C	T129391559C	LAMA2	NM_000426.3(LAMA2):c.5140T>C:p.Leu1714=	coding	Benign
6	129391654	G	A	G129391654A	LAMA2	NM_000426.3(LAMA2):c.5234+1G>A	coding	Pathogenic
6	129393057	C	T	C129393057T	LAMA2	NM_000426.3(LAMA2):c.5247C>T:p.Ala1749=	coding	Benign/Likely_benign
6	129393090	G	A	G129393090A	LAMA2	NM_000426.3(LAMA2):c.5280G>A:p.Glu1760=	coding	Benign/Likely_benign
6	129393106	G	T	G129393106T	LAMA2	NM_000426.4(LAMA2):c.5296G>T:p.Glu1766Ter	coding	Pathogenic
6	129393184	G	T	G129393184T	LAMA2	NM_000426.3(LAMA2):c.5374G>T:p.Glu1792Ter	coding	Pathogenic
6	129393192	A	G	A129393192G	LAMA2	NM_000426.3(LAMA2):c.5382A>G:p.Thr1794=	coding	Benign/Likely_benign
6	129400880	T	C	T129400880C	LAMA2	NM_000426.3(LAMA2):c.5446-344T>C	noncoding	Benign
6	129401244	A	G	A129401244G	LAMA2	NM_000426.3(LAMA2):c.5466A>G:p.Glu1822=	coding	Benign
6	129401254	C	T	C129401254T	LAMA2	NM_000426.3(LAMA2):c.5476C>T:p.Arg1826Ter	coding	Pathogenic/Likely_pathogenic
6	129401280	G	A	G129401280A	LAMA2	NM_000426.3(LAMA2):c.5502G>A:p.Glu1834=	coding	Benign
6	129401345	G	C	G129401345C	LAMA2	NM_000426.3(LAMA2):c.5562+5G>C	noncoding	Pathogenic/Likely_pathogenic
6	129401489	A	G	A129401489G	LAMA2	NM_000426.3(LAMA2):c.5562+149A>G	noncoding	Benign
6	129402028	C	T	C129402028T	LAMA2	NM_000426.3(LAMA2):c.5563-296C>T	noncoding	Benign
6	129402366	G	T	G129402366T	LAMA2	NM_000426.3(LAMA2):c.5605G>T:p.Glu1869Ter	coding	Pathogenic
6	129402660	T	C	T129402660C	LAMA2	NM_000426.3(LAMA2):c.5726+173T>C	noncoding	Benign
6	129403522	G	A	G129403522A	LAMA2	NM_000426.3(LAMA2):c.5727-299G>A	noncoding	Benign
6	129403749	A	G	A129403749G	LAMA2	NM_000426.3(LAMA2):c.5727-72A>G	noncoding	Benign
6	129403797	T	A	T129403797A	LAMA2	NM_000426.3(LAMA2):c.5727-24T>A	noncoding	Benign
6	129403799	C	T	C129403799T	LAMA2	NM_000426.3(LAMA2):c.5727-22C>T	noncoding	Benign
6	129403800	T	G	T129403800G	LAMA2	NM_000426.3(LAMA2):c.5727-21T>G	noncoding	Benign
6	129404170	C	G	C129404170G	LAMA2	NM_000426.3(LAMA2):c.5865+211C>G	noncoding	Benign
6	129427416	C	T	C129427416T	LAMA2	NM_000426.3(LAMA2):c.5866-336C>T	noncoding	Benign
6	129427750	A	G	A129427750G	LAMA2	NM_000426.3(LAMA2):c.5866-2A>G	noncoding	Pathogenic
6	129427751	G	A	G129427751A	LAMA2	NM_000426.3(LAMA2):c.5866-1G>A	noncoding	Pathogenic/Likely_pathogenic
6	129427795	G	C	G129427795C	LAMA2	NM_000426.3(LAMA2):c.5909G>C:p.Cys1970Ser	coding	Benign/Likely_benign
6	129427796	T	A	T129427796A	LAMA2	NM_000426.4(LAMA2):c.5910T>A:p.Cys1970Ter	coding	Pathogenic
6	129427800	C	T	C129427800T	LAMA2	NM_000426.3(LAMA2):c.5914C>T:p.Gln1972Ter	coding	Pathogenic
6	129427854	G	T	G129427854T	LAMA2	NM_000426.4(LAMA2):c.5968G>T:p.Glu1990Ter	coding	Pathogenic
6	129438642	G	A	G129438642A	LAMA2	NM_000426.3(LAMA2):c.5969-4G>A	noncoding	Benign/Likely_benign
6	129439024	A	G	A129439024G	LAMA2	NM_000426.3(LAMA2):c.6085+262A>G	noncoding	Benign
6	129440776	C	G	C129440776G	LAMA2	NM_000426.3(LAMA2):c.6086-40C>G	noncoding	Benign
6	129440880	T	C	T129440880C	LAMA2	NM_000426.3(LAMA2):c.6150T>C:p.Asp2050=	coding	Benign/Likely_benign
6	129440897	C	A	C129440897A	LAMA2	NM_000426.3(LAMA2):c.6167C>A:p.Thr2056Lys	coding	Benign
6	129440926	A	T	A129440926T	LAMA2	NM_000426.4(LAMA2):c.6196A>T:p.Lys2066Ter	coding	Pathogenic
6	129440937	C	A	C129440937A	LAMA2	NM_000426.3(LAMA2):c.6207C>A:p.Tyr2069Ter	coding	Pathogenic
6	129440964	A	G	A129440964G	LAMA2	NM_000426.3(LAMA2):c.6234A>G:p.Lys2078=	coding	Benign
6	129440967	G	A	G129440967A	LAMA2	NM_000426.3(LAMA2):c.6237G>A:p.Thr2079=	coding	Benign
6	129441000	T	C	T129441000C	LAMA2	NM_000426.3(LAMA2):c.6268+2T>C	noncoding	Pathogenic
6	129441165	G	A	G129441165A	LAMA2	NM_000426.3(LAMA2):c.6268+167G>A	noncoding	Benign
6	129441191	C	T	C129441191T	LAMA2	NM_000426.3(LAMA2):c.6268+193C>T	noncoding	Benign
6	129442920	C	G	C129442920G	LAMA2	NM_000426.3(LAMA2):c.6269-143C>G	noncoding	Benign
6	129443072	C	T	C129443072T	LAMA2	NM_000426.3(LAMA2):c.6274+4C>T	noncoding	Benign
6	129443115	A	T	A129443115T	LAMA2	NM_000426.3(LAMA2):c.6274+47A>T	noncoding	Benign
6	129443128	A	G	A129443128G	LAMA2	NM_000426.3(LAMA2):c.6274+60A>G	noncoding	Benign
6	129443220	G	A	G129443220A	LAMA2	NM_000426.3(LAMA2):c.6274+152G>A	noncoding	Benign
6	129445565	A	G	A129445565G	LAMA2	NM_000426.3(LAMA2):c.6275-102A>G	noncoding	Benign
6	129445829	C	A	C129445829A	LAMA2	NM_000426.3(LAMA2):c.6429+8C>A	noncoding	Benign/Likely_benign
6	129453448	C	T	C129453448T	LAMA2	NM_000426.3(LAMA2):c.6573+317C>T	noncoding	Benign
6	129454230	G	A	G129454230A	LAMA2	NM_000426.3(LAMA2):c.6649G>A:p.Val2217Ile	coding	Benign/Likely_benign
6	129454271	C	A	C129454271A	LAMA2	NM_000426.3(LAMA2):c.6690C>A:p.Tyr2230Ter	coding	Pathogenic
6	129454325	T	C	T129454325C	LAMA2	NM_000426.3(LAMA2):c.6707+37T>C	noncoding	Benign
6	129456237	C	T	C129456237T	LAMA2	NM_000426.3(LAMA2):c.6708-98C>T	noncoding	Benign
6	129459862	T	C	T129459862C	LAMA2	NM_000426.3(LAMA2):c.6868-338T>C	noncoding	Benign
6	129460287	C	T	C129460287T	LAMA2	NM_000426.3(LAMA2):c.6955C>T:p.Arg2319Ter	coding	Pathogenic
6	129464024	C	T	C129464024T	LAMA2	NM_000426.3(LAMA2):c.6993-266C>T	noncoding	Benign
6	129464074	C	T	C129464074T	LAMA2	NM_000426.3(LAMA2):c.6993-216C>T	noncoding	Benign
6	129464137	G	A	G129464137A	LAMA2	NM_000426.3(LAMA2):c.6993-153G>A	noncoding	Benign
6	129464246	T	C	T129464246C	LAMA2	NM_000426.3(LAMA2):c.6993-44T>C	noncoding	Benign
6	129464288	A	C	A129464288C	LAMA2	NM_000426.3(LAMA2):c.6993-2A>C	noncoding	Pathogenic/Likely_pathogenic
6	129464321	C	T	C129464321T	LAMA2	NM_000426.4(LAMA2):c.7024C>T:p.Gln2342Ter	coding	Pathogenic
6	129464341	T	G	T129464341G	LAMA2	NM_000426.4(LAMA2):c.7044T>G:p.Tyr2348Ter	coding	Pathogenic
6	129464371	C	A	C129464371A	LAMA2	NM_000426.3(LAMA2):c.7074C>A:p.Tyr2358Ter	coding	Pathogenic
6	129464444	C	T	C129464444T	LAMA2	NM_000426.3(LAMA2):c.7147C>T:p.Arg2383Ter	coding	Pathogenic
6	129464453	G	A	G129464453A	LAMA2	NM_000426.3(LAMA2):c.7155+1G>A	coding	Pathogenic
6	129473040	G	A	G129473040A	LAMA2	NM_000426.3(LAMA2):c.7301-174G>A	noncoding	Benign
6	129473344	A	T	A129473344T	LAMA2	NM_000426.3(LAMA2):c.7431A>T:p.Arg2477Ser	coding	Benign/Likely_benign
6	129473353	G	A	G129473353A	LAMA2	NM_000426.3(LAMA2):c.7439+1G>A	coding	Pathogenic
6	129475475	C	T	C129475475T	LAMA2	NM_000426.3(LAMA2):c.7451+74C>T	noncoding	Benign
6	129478356	C	G	C129478356G	LAMA2	NM_000426.3(LAMA2):c.7452-337C>G	noncoding	Benign
6	129478395	A	G	A129478395G	LAMA2	NM_000426.3(LAMA2):c.7452-298A>G	noncoding	Benign
6	129478463	C	T	C129478463T	LAMA2	NM_000426.3(LAMA2):c.7452-230C>T	noncoding	Benign
6	129478537	C	T	C129478537T	LAMA2	NM_000426.3(LAMA2):c.7452-156C>T	noncoding	Benign
6	129478692	G	A	G129478692A	LAMA2	NM_000426.3(LAMA2):c.7452-1G>A	noncoding	Pathogenic
6	129479021	T	C	T129479021C	LAMA2	NM_000426.3(LAMA2):c.7572+208T>C	noncoding	Benign
6	129481157	G	C	G129481157C	LAMA2	NM_000426.3(LAMA2):c.7573-106G>C	noncoding	Benign
6	129481381	T	C	T129481381C	LAMA2	NM_000426.3(LAMA2):c.7691T>C:p.Leu2564Pro	coding	Pathogenic
6	129481422	C	T	C129481422T	LAMA2	NM_000426.3(LAMA2):c.7732C>T:p.Arg2578Ter	coding	Pathogenic
6	129481571	A	T	A129481571T	LAMA2	NM_000426.3(LAMA2):c.7749+132A>T	noncoding	Benign
6	129481599	A	G	A129481599G	LAMA2	NM_000426.3(LAMA2):c.7749+160A>G	noncoding	Benign
6	129486338	C	G	C129486338G	LAMA2	NM_000426.3(LAMA2):c.7750-136C>G	noncoding	Benign
6	129486484	C	T	C129486484T	LAMA2	NM_000426.3(LAMA2):c.7760=:p.Val2587=	coding	Benign
6	129486534	C	T	C129486534T	LAMA2	NM_000426.3(LAMA2):c.7810C>T:p.Arg2604Ter	coding	Pathogenic
6	129486554	G	C	G129486554C	LAMA2	NM_000426.3(LAMA2):c.7830G>C:p.Val2610=	coding	Benign
6	129486569	G	A	G129486569A	LAMA2	NM_000426.3(LAMA2):c.7845G>A:p.Pro2615=	coding	Benign
6	129486724	C	A	C129486724A	LAMA2	NM_000426.3(LAMA2):c.7898+102C>A	noncoding	Benign
6	129486800	C	T	C129486800T	LAMA2	NM_000426.3(LAMA2):c.7898+178C>T	noncoding	Benign
6	129486850	C	A	C129486850A	LAMA2	NM_000426.3(LAMA2):c.7898+228C>A	noncoding	Benign
6	129491908	A	G	A129491908G	LAMA2	NM_000426.3(LAMA2):c.7906A>G:p.Thr2636Ala	coding	Benign
6	129492030	T	C	T129492030C	LAMA2	NM_000426.3(LAMA2):c.8028T>C:p.Asn2676=	coding	Benign
6	129492201	C	T	C129492201T	LAMA2	NM_000426.3(LAMA2):c.8076-114C>T	noncoding	Benign
6	129492363	T	A	T129492363A	LAMA2	NM_000426.3(LAMA2):c.8124T>A:p.Gly2708=	coding	Benign
6	129492394	G	T	G129492394T	LAMA2	NM_000426.3(LAMA2):c.8155G>T:p.Glu2719Ter	coding	Pathogenic
6	129492484	G	A	G129492484A	LAMA2	NM_000426.3(LAMA2):c.8244+1G>A	coding	Pathogenic/Likely_pathogenic
6	129492484	G	T	G129492484T	LAMA2	NM_000426.4(LAMA2):c.8244+1G>T	coding	Pathogenic
6	129502466	T	C	T129502466C	LAMA2	NM_000426.3(LAMA2):c.8245-193T>C	noncoding	Benign
6	129502500	A	G	A129502500G	LAMA2	NM_000426.3(LAMA2):c.8245-159A>G	noncoding	Benign
6	129502657	A	G	A129502657G	LAMA2	NM_000426.3(LAMA2):c.8245-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	129503261	A	G	A129503261G	LAMA2	NM_000426.3(LAMA2):c.8528A>G:p.Asn2843Ser	coding	Benign/Likely_benign
6	129505190	T	C	T129505190C	LAMA2	NM_000426.3(LAMA2):c.8548-10T>C	noncoding	Benign/Likely_benign
6	129505317	G	A	G129505317A	LAMA2	NM_000426.3(LAMA2):c.8665G>A:p.Gly2889Arg	coding	Pathogenic
6	129505341	C	T	C129505341T	LAMA2	NM_000426.4(LAMA2):c.8689C>T:p.Arg2897Ter	coding	Pathogenic
6	129505343	A	G	A129505343G	LAMA2	NM_000426.3(LAMA2):c.8691A>G:p.Arg2897=	coding	Benign
6	129507540	C	T	C129507540T	LAMA2	NM_000426.3(LAMA2):c.8755C>T:p.Pro2919Ser	coding	Benign/Likely_benign
6	129507559	C	T	C129507559T	LAMA2	NM_000426.3(LAMA2):c.8774C>T:p.Pro2925Leu	coding	Benign
6	129512487	T	C	T129512487C	LAMA2	NM_000426.3(LAMA2):c.8982T>C:p.Asp2994=	coding	Benign/Likely_benign
6	129514225	T	A	T129514225A	LAMA2	NM_000426.3(LAMA2):c.8989-148T>A	noncoding	Benign
6	129514507	C	T	C129514507T	LAMA2	NM_000426.3(LAMA2):c.9123C>T:p.Val3041=	coding	Benign/Likely_benign
6	129514669	G	A	G129514669A	LAMA2	NM_000426.3(LAMA2):c.9211+74G>A	noncoding	Benign
6	129516175	C	A	C129516175A	LAMA2	NM_000426.3(LAMA2):c.9212-15C>A	noncoding	Benign
6	129516189	G	A	G129516189A	LAMA2	NM_000426.3(LAMA2):c.9212-1G>A	noncoding	Pathogenic
6	129516404	A	C	A129516404C	LAMA2	NM_000426.3(LAMA2):c.*57A>C	noncoding	Benign
6	129516465	T	C	T129516465C	LAMA2	NM_000426.3(LAMA2):c.*118T>C	noncoding	Benign
6	129710043	C	T	C129710043T	ARHGAP18	NM_033515.3(ARHGAP18):c.94G>A:p.Gly32Arg	coding	Benign
6	130060116	G	A	G130060116A	L3MBTL3	NM_032438.4(L3MBTL3):c.840G>A:p.Val280=	coding	Benign
6	130068424	A	G	A130068424G	L3MBTL3	NM_032438.4(L3MBTL3):c.1092+3A>G	noncoding	Benign
6	130869620	G	A	G130869620A	EPB41L2	NM_001431.4(EPB41L2):c.2550C>T:p.Asn850=	coding	Benign
6	130885265	G	A	G130885265A	EPB41L2	NM_001431.4(EPB41L2):c.1664C>T:p.Pro555Leu	coding	Benign
6	131573218	C	T	C131573218T	ARG1	NM_000045.3(ARG1):c.-65C>T	noncoding	Benign
6	131573314	T	C	T131573314C	ARG1	NM_000045.4(ARG1):c.32T>C:p.Ile11Thr	coding	Pathogenic
6	131573339	G	A	G131573339A	ARG1	NM_000045.4(ARG1):c.57G>A:p.Gln19=	coding	Benign
6	131573340	G	A	G131573340A	ARG1	NM_000045.4(ARG1):c.57+1G>A	coding	Pathogenic
6	131576666	C	T	C131576666T	ARG1	NM_000045.4(ARG1):c.61C>T:p.Arg21Ter	coding	Pathogenic
6	131579122	A	T	A131579122T	ARG1	NM_000045.4(ARG1):c.142A>T:p.Lys48Ter	coding	Pathogenic
6	131579250	C	T	C131579250T	MED23;ARG1	NM_000045.4(ARG1):c.270C>T:p.Asn90=	coding	Benign
6	131581278	G	A	G131581278A	ARG1	NM_000045.4(ARG1):c.365G>A:p.Trp122Ter	coding	Pathogenic
6	131581296	A	G	A131581296G	ARG1	NM_000045.4(ARG1):c.383A>G:p.Asp128Gly	coding	Pathogenic
6	131581326	G	T	G131581326T	ARG1	NM_000045.4(ARG1):c.413G>T:p.Gly138Val	coding	Pathogenic
6	131581347	T	A	T131581347A	ARG1	NM_000045.4(ARG1):c.434T>A:p.Val145Glu	coding	Pathogenic
6	131582620	G	C	G131582620C	ARG1	NM_000045.4(ARG1):c.466-1G>C	noncoding	Pathogenic
6	131583093	T	C	T131583093C	ARG1	NM_000045.4(ARG1):c.594T>C:p.Phe198=	coding	Benign
6	131583353	A	G	A131583353G	ARG1;MED23	NM_000045.4(ARG1):c.666-2A>G	noncoding	Pathogenic
6	131583392	G	A	G131583392A	ARG1	NM_000045.4(ARG1):c.703G>A:p.Gly235Arg	coding	Pathogenic
6	131583392	G	C	G131583392C	ARG1	NM_000045.4(ARG1):c.703G>C:p.Gly235Arg	coding	Pathogenic
6	131583808	C	G	C131583808G	ARG1	NM_000045.4(ARG1):c.869C>G:p.Thr290Ser	coding	Pathogenic
6	131583810	C	T	C131583810T	ARG1	NM_000045.4(ARG1):c.871C>T:p.Arg291Ter	coding	Pathogenic/Likely_pathogenic
6	131583851	C	T	C131583851T	ARG1	NM_000045.4(ARG1):c.912C>T:p.Phe304=	coding	Benign/Likely_benign
6	131587798	G	A	G131587798A	MED23	NM_004830.4(MED23):c.3988C>T:p.Arg1330Ter	coding	Pathogenic
6	131589585	C	T	C131589585T	MED23	NM_004830.4(MED23):c.3819G>A:p.Ala1273=	coding	Benign
6	131591361	T	C	T131591361C	MED23	NM_004830.4(MED23):c.3638A>G:p.His1213Arg	coding	Pathogenic
6	131592469	G	A	G131592469A	MED23	NM_004830.4(MED23):c.3399-9C>T	noncoding	Benign
6	131593092	A	G	A131593092G	MED23	NM_004830.4(MED23):c.3312T>C:p.Ala1104=	coding	Benign
6	131596128	C	T	C131596128T	MED23	NM_004830.4(MED23):c.2814G>A:p.Ala938=	coding	Benign/Likely_benign
6	131602279	T	C	T131602279C	MED23	NM_004830.4(MED23):c.2034A>G:p.Ala678=	coding	Benign
6	131618517	G	C	G131618517C	MED23	NM_004830.4(MED23):c.670C>G:p.Arg224Gly	coding	Pathogenic
6	131621917	G	A	G131621917A	MED23	NM_004830.4(MED23):c.459C>T:p.Ser153=	coding	Benign
6	131724040	A	G	A131724040G	ENPP3	NM_005021.5(ENPP3):c.1747A>G:p.Ser583Gly	coding	Benign
6	131726105	G	A	G131726105A	ENPP3	NM_005021.5(ENPP3):c.1858G>A:p.Val620Met	coding	Benign
6	131847857	G	T	G131847857T	ENPP1	NM_006208.3(ENPP1):c.313+9G>T	noncoding	Benign
6	131851157	G	C	G131851157C	ENPP1	NM_006208.3(ENPP1):c.446G>C:p.Cys149Ser	coding	Pathogenic
6	131851202	G	C	G131851202C	ENPP1	NM_006208.3(ENPP1):c.491G>C:p.Cys164Ser	coding	Pathogenic
6	131851228	A	C	A131851228C	ENPP1	NM_006208.3(ENPP1):c.517A>C:p.Lys173Gln	coding	Benign
6	131851241	G	A	G131851241A	ENPP1	NM_006208.3(ENPP1):c.530G>A:p.Cys177Tyr	coding	Pathogenic
6	131858735	C	G	C131858735G	ENPP1	NM_006208.3(ENPP1):c.783C>G:p.Tyr261Ter	coding	Pathogenic
6	131858748	G	A	G131858748A	ENPP1	NM_006208.3(ENPP1):c.795+1G>A	coding	Pathogenic
6	131860388	G	T	G131860388T	ENPP1	NM_006208.3(ENPP1):c.797G>T:p.Gly266Val	coding	Pathogenic
6	131861704	G	T	G131861704T	ENPP1	NM_006208.3(ENPP1):c.1025G>T:p.Gly342Val	coding	Pathogenic
6	131864548	G	A	G131864548A	ENPP1	NM_006208.3(ENPP1):c.1068G>A:p.Trp356Ter	coding	Pathogenic
6	131864886	A	T	A131864886T	ENPP1	NM_006208.3(ENPP1):c.1112A>T:p.Tyr371Phe	coding	Pathogenic
6	131869401	A	G	A131869401G	ENPP1	NM_006208.3(ENPP1):c.1317A>G:p.Lys439=	coding	Benign
6	131869413	T	C	T131869413C	ENPP1	NM_006208.3(ENPP1):c.1329T>C:p.Asp443=	coding	Benign
6	131874254	T	C	T131874254C	ENPP1	NM_006208.3(ENPP1):c.1566-14T>C	noncoding	Benign
6	131874314	G	C	G131874314C	ENPP1	NM_006208.3(ENPP1):c.1612G>C:p.Asp538His	coding	Pathogenic
6	131877005	G	C	G131877005C	ENPP1	NM_006208.3(ENPP1):c.1737G>C:p.Leu579Phe	coding	Pathogenic
6	131877099	C	G	C131877099G	ENPP1	NM_006208.3(ENPP1):c.1831C>G:p.Leu611Val	coding	Benign/Likely_benign
6	131879936	G	A	G131879936A	ENPP1	NM_006208.3(ENPP1):c.2002G>A:p.Glu668Lys	coding	Benign/Likely_benign
6	131882343	A	T	A131882343T	ENPP1	NM_006208.3(ENPP1):c.2101-2A>T	noncoding	Pathogenic
6	131882350	T	C	T131882350C	ENPP1	NM_006208.3(ENPP1):c.2106T>C:p.Ser702=	coding	Benign
6	131882368	C	A	C131882368A	ENPP1	NM_006208.3(ENPP1):c.2124C>A:p.Phe708Leu	coding	Benign
6	131884939	C	T	C131884939T	ENPP1	NM_006208.3(ENPP1):c.2320C>T:p.Arg774Cys	coding	Benign/Likely_benign
6	131884954	A	C	A131884954C	ENPP1	NM_006208.3(ENPP1):c.2335A>C:p.Thr779Pro	coding	Benign
6	131890390	G	C	G131890390C	ENPP1	NM_006208.3(ENPP1):c.2657G>C:p.Arg886Thr	coding	Benign/Likely_benign
6	131890394	A	G	A131890394G	ENPP1	NM_006208.3(ENPP1):c.2661A>G:p.Ala887=	coding	Benign
6	131890410	G	T	G131890410T	ENPP1	NM_006208.3(ENPP1):c.2677G>T:p.Glu893Ter	coding	Pathogenic
6	131890435	A	C	A131890435C	ENPP1	NM_006208.3(ENPP1):c.2702A>C:p.Tyr901Ser	coding	Pathogenic
6	131890623	G	A	G131890623A	ENPP1	NM_006208.3(ENPP1):c.*112G>A	noncoding	Benign
6	131890632	G	C	G131890632C	ENPP1	NM_006208.3(ENPP1):c.*121G>C	noncoding	Benign
6	131890674	C	T	C131890674T	ENPP1	NM_006208.3(ENPP1):c.*163C>T	noncoding	Benign
6	131890900	G	A	G131890900A	ENPP1	NM_006208.3(ENPP1):c.*389G>A	noncoding	Benign
6	131890911	C	A	C131890911A	ENPP1	NM_006208.3(ENPP1):c.*400C>A	noncoding	Benign
6	131890968	T	A	T131890968A	ENPP1	NM_006208.3(ENPP1):c.*457T>A	noncoding	Benign
6	131890988	A	T	A131890988T	ENPP1	NM_006208.3(ENPP1):c.*477A>T	noncoding	Benign
6	131891074	G	A	G131891074A	ENPP1	NM_006208.3(ENPP1):c.*563G>A	noncoding	Benign
6	131891210	T	A	T131891210A	ENPP1	NM_006208.3(ENPP1):c.*699T>A	noncoding	Benign
6	131891246	A	G	A131891246G	ENPP1	NM_006208.3(ENPP1):c.*735A>G	noncoding	Benign
6	131891283	A	T	A131891283T	ENPP1	NM_006208.3(ENPP1):c.*772A>T	noncoding	Benign
6	131891288	C	T	C131891288T	ENPP1	NM_006208.3(ENPP1):c.*777C>T	noncoding	Benign
6	131891554	A	G	A131891554G	ENPP1	NM_006208.3(ENPP1):c.*1043A>G	noncoding	Benign
6	131891602	A	C	A131891602C	ENPP1	NM_006208.3(ENPP1):c.*1091A>C	noncoding	Benign
6	131891612	G	T	G131891612T	ENPP1	NM_006208.3(ENPP1):c.*1101G>T	noncoding	Benign
6	131891648	T	C	T131891648C	ENPP1	NM_006208.3(ENPP1):c.*1137T>C	noncoding	Benign
6	131891668	C	T	C131891668T	ENPP1	NM_006208.3(ENPP1):c.*1157C>T	noncoding	Benign
6	131891735	A	G	A131891735G	ENPP1	NM_006208.3(ENPP1):c.*1224A>G	noncoding	Benign
6	131891747	G	T	G131891747T	ENPP1	NM_006208.3(ENPP1):c.*1236G>T	noncoding	Benign
6	131891810	C	T	C131891810T	ENPP1	NM_006208.3(ENPP1):c.*1299C>T	noncoding	Benign
6	131891859	T	C	T131891859C	ENPP1	NM_006208.3(ENPP1):c.*1348T>C	noncoding	Benign
6	131891861	G	A	G131891861A	ENPP1	NM_006208.3(ENPP1):c.*1350G>A	noncoding	Benign
6	131892050	A	G	A131892050G	ENPP1	NM_006208.3(ENPP1):c.*1539A>G	noncoding	Benign
6	131892070	G	T	G131892070T	ENPP1	NM_006208.3(ENPP1):c.*1559G>T	noncoding	Benign
6	131892181	T	C	T131892181C	ENPP1	NM_006208.3(ENPP1):c.*1670T>C	noncoding	Benign
6	131892483	G	C	G131892483C	ENPP1	NM_006208.3(ENPP1):c.*1972G>C	noncoding	Benign
6	131892547	A	G	A131892547G	ENPP1	NM_006208.3(ENPP1):c.*2036A>G	noncoding	Benign
6	131892793	G	A	G131892793A	ENPP1	NM_006208.3(ENPP1):c.*2282G>A	noncoding	Benign
6	131892812	A	G	A131892812G	ENPP1	NM_006208.3(ENPP1):c.*2301A>G	noncoding	Benign
6	131893248	C	T	C131893248T	ENPP1	NM_006208.3(ENPP1):c.*2737C>T	noncoding	Benign
6	131893411	G	T	G131893411T	ENPP1	NM_006208.3(ENPP1):c.*2900G>T	noncoding	Benign
6	131893528	C	T	C131893528T	ENPP1	NM_006208.3(ENPP1):c.*3017C>T	noncoding	Benign
6	131893674	C	T	C131893674T	ENPP1	NM_006208.3(ENPP1):c.*3163C>T	noncoding	Benign
6	131893782	C	G	C131893782G	ENPP1	NM_006208.3(ENPP1):c.*3271C>G	noncoding	Benign
6	131894575	T	C	T131894575C	ENPP1	NM_006208.3(ENPP1):c.*4064T>C	noncoding	Benign
6	131894759	G	A	G131894759A	ENPP1	NM_006208.3(ENPP1):c.*4248G>A	noncoding	Benign
6	131895082	G	C	G131895082C	ENPP1	NM_006208.3(ENPP1):c.*4571G>C	noncoding	Benign
6	131895147	C	T	C131895147T	ENPP1	NM_006208.3(ENPP1):c.*4636C>T	noncoding	Benign
6	131895152	A	G	A131895152G	ENPP1	NM_006208.3(ENPP1):c.*4641A>G	noncoding	Benign
6	131950549	G	A	G131950549A	CCN2	NM_001901.3(CCN2):c.290-6C>T	noncoding	Benign
6	132553138	G	T	G132553138T	TAAR8	NM_053278.2(TAAR8):c.446G>T:p.Gly149Val	coding	Benign
6	132553150	G	A	G132553150A	TAAR8	NM_053278.2(TAAR8):c.458G>A:p.Ser153Asn	coding	Benign
6	132570483	G	A	G132570483A	TAAR6	NM_175067.1(TAAR6):c.162G>A:p.Met54Ile	coding	Benign
6	132570617	A	G	A132570617G	TAAR6	NM_175067.1(TAAR6):c.296A>G:p.Tyr99Cys	coding	Benign
6	132588699	G	A	G132588699A	TAAR5	NM_003967.2(TAAR5):c.988C>T:p.Arg330Cys	coding	Benign
6	132588872	G	A	G132588872A	TAAR5	NM_003967.2(TAAR5):c.815C>T:p.Thr272Met	coding	Benign
6	132589006	G	A	G132589006A	TAAR5	NM_003967.2(TAAR5):c.681C>T:p.Thr227=	coding	Benign
6	132589267	C	G	C132589267G	TAAR5	NM_003967.2(TAAR5):c.420G>C:p.Leu140=	coding	Benign
6	132645250	T	C	T132645250C	TAAR1	NM_138327.3(TAAR1):c.754A>G:p.Thr252Ala	coding	Benign
6	132645893	T	G	T132645893G	TAAR1	NM_138327.3(TAAR1):c.111A>C:p.Thr37=	coding	Benign
6	132645937	G	A	G132645937A	TAAR1	NM_138327.3(TAAR1):c.67C>T:p.Arg23Cys	coding	Benign
6	132683142	A	G	A132683142G	VNN1	NM_004666.3(VNN1):c.1540T>C:p.Ter514Gln	coding	Benign
6	132692293	A	G	A132692293G	VNN1	NM_004666.3(VNN1):c.1118T>C:p.Ile373Thr	coding	Benign
6	132692437	G	T	G132692437T	VNN1	NM_004666.3(VNN1):c.974C>A:p.Ala325Glu	coding	Benign
6	132692523	C	G	C132692523G	VNN1	NM_004666.3(VNN1):c.888G>C:p.Glu296Asp	coding	Benign
6	132692587	G	A	G132692587A	VNN1	NM_004666.3(VNN1):c.827-3C>T	noncoding	Benign
6	132694088	C	T	C132694088T	VNN1	NM_004666.3(VNN1):c.436G>A:p.Asp146Asn	coding	Benign
6	132694118	C	G	C132694118G	VNN1	NM_004666.3(VNN1):c.406G>C:p.Val136Leu	coding	Benign
6	132711834	C	T	C132711834T	VNN1	NM_004666.3(VNN1):c.216G>A:p.Ala72=	coding	Benign
6	132724775	T	G	T132724775G	VNN3	NM_001291702.2(VNN3):c.260A>C:p.Asp87Ala	coding	Benign
6	132751167	C	T	C132751167T	VNN2	NM_004665.5(VNN2):c.1178G>A:p.Arg393Gln	coding	Benign
6	132757494	G	A	G132757494A	VNN2	NM_004665.5(VNN2):c.266C>T:p.Thr89Ile	coding	Benign
6	132757834	G	T	G132757834T	VNN2	NM_004665.5(VNN2):c.50C>A:p.Thr17Asn	coding	Benign
6	133241370	C	T	C133241370T	EYA4	NM_004100.5(EYA4):c.-445C>T	noncoding	Benign/Likely_benign
6	133241459	T	C	T133241459C	EYA4	NM_004100.5(EYA4):c.-356T>C	noncoding	Benign/Likely_benign
6	133241489	C	G	C133241489G	EYA4	NM_004100.5(EYA4):c.-326C>G	noncoding	Benign/Likely_benign
6	133241571	C	G	C133241571G	EYA4	NM_004100.5(EYA4):c.-244C>G	noncoding	Benign/Likely_benign
6	133241739	C	T	C133241739T	EYA4	NM_004100.5(EYA4):c.-76C>T	noncoding	Benign
6	133446649	C	T	C133446649T	EYA4	NM_004100.5(EYA4):c.103C>T:p.Leu35=	coding	Benign/Likely_benign
6	133446657	T	C	T133446657C	EYA4	NM_004100.5(EYA4):c.111T>C:p.Ser37=	coding	Benign/Likely_benign
6	133448188	G	A	G133448188A	EYA4	NM_004100.5(EYA4):c.277+9G>A	noncoding	Benign
6	133461152	C	T	C133461152T	EYA4	NM_004100.5(EYA4):c.409C>T:p.Gln137Ter	coding	Pathogenic
6	133464874	G	T	G133464874T	EYA4	NM_004100.5(EYA4):c.804+16G>T	noncoding	Benign
6	133464875	T	C	T133464875C	EYA4	NM_004100.5(EYA4):c.804+17T>C	noncoding	Benign
6	133468590	G	A	G133468590A	EYA4	NM_004100.5(EYA4):c.829G>A:p.Gly277Ser	coding	Benign/Likely_benign
6	133468666	G	A	G133468666A	EYA4	NM_004100.5(EYA4):c.905G>A:p.Gly302Asp	coding	Benign/Likely_benign
6	133468686	A	G	A133468686G	EYA4	NM_004100.5(EYA4):c.925A>G:p.Thr309Ala	coding	Benign
6	133468823	G	A	G133468823A	EYA4	NM_004100.5(EYA4):c.970+92G>A	noncoding	Benign
6	133481404	G	A	G133481404A	EYA4	NM_004100.5(EYA4):c.971-59G>A	noncoding	Benign
6	133512768	G	A	G133512768A	EYA4	NM_004100.5(EYA4):c.1329G>A:p.Gly443=	coding	Benign
6	133515356	C	T	C133515356T	EYA4	NM_004100.5(EYA4):c.1537C>T:p.Gln513Ter	coding	Pathogenic
6	133525174	C	T	C133525174T	EYA4	NM_004100.5(EYA4):c.1759C>T:p.Arg587Ter	coding	Pathogenic
6	133525249	A	T	A133525249T	EYA4;TARID	NM_004100.5(EYA4):c.1834A>T:p.Lys612Ter	coding	Pathogenic
6	133528730	C	T	C133528730T	EYA4	NM_004100.5(EYA4):c.1845C>T:p.Asn615=	coding	Benign/Likely_benign
6	133528828	C	T	C133528828T	EYA4	NM_004100.5(EYA4):c.*23C>T	noncoding	Benign
6	133529531	C	A	C133529531A	EYA4	NM_004100.5(EYA4):c.*726C>A	noncoding	Benign
6	133530069	T	A	T133530069A	EYA4	NM_004100.5(EYA4):c.*1264T>A	noncoding	Benign
6	133530239	A	G	A133530239G	EYA4	NM_004100.5(EYA4):c.*1434A>G	noncoding	Benign
6	133530289	C	T	C133530289T	EYA4	NM_004100.5(EYA4):c.*1484C>T	noncoding	Benign/Likely_benign
6	133530463	C	T	C133530463T	EYA4	NM_004100.5(EYA4):c.*1658C>T	noncoding	Benign
6	133530672	C	T	C133530672T	EYA4	NM_004100.5(EYA4):c.*1867C>T	noncoding	Benign
6	133530913	A	G	A133530913G	EYA4	NM_004100.5(EYA4):c.*2108A>G	noncoding	Benign
6	133530989	A	T	A133530989T	EYA4	NM_004100.5(EYA4):c.*2184A>T	noncoding	Benign
6	133531107	G	A	G133531107A	EYA4	NM_004100.5(EYA4):c.*2302G>A	noncoding	Benign/Likely_benign
6	133531490	T	A	T133531490A	EYA4	NM_004100.5(EYA4):c.*2685T>A	noncoding	Benign/Likely_benign
6	133531723	G	A	G133531723A	EYA4	NM_004100.5(EYA4):c.*2918G>A	noncoding	Benign/Likely_benign
6	133531773	T	A	T133531773A	EYA4	NM_004100.5(EYA4):c.*2968T>A	noncoding	Benign/Likely_benign
6	133531819	T	C	T133531819C	EYA4	NM_004100.5(EYA4):c.*3014T>C	noncoding	Benign/Likely_benign
6	133889667	C	T	C133889667T	TCF21	NM_003206.4(TCF21):c.270C>T:p.Ala90=	coding	Benign
6	133889838	G	T	G133889838T	TCF21	NM_003206.4(TCF21):c.441G>T:p.Pro147=	coding	Benign
6	134170319	G	A	G134170319A	SGK1	NM_005627.4(SGK1):c.1245C>T:p.Ala415=	coding	Benign
6	134932896	G	A	G134932896A	ALDH8A1	NM_022568.4(ALDH8A1):c.729C>T:p.Ser243=	coding	Benign
6	134950040	T	C	T134950040C	ALDH8A1	NM_022568.4(ALDH8A1):c.14A>G:p.Asn5Ser	coding	Benign
6	134966324	A	C	A134966324C	HBS1L	NM_006620.4(HBS1L):c.2043+5T>G	noncoding	Benign
6	135002823	C	G	C135002823G	HBS1L	NM_006620.4(HBS1L):c.450G>C:p.Gln150His	coding	Benign
6	135002834	C	T	C135002834T	HBS1L	NM_006620.4(HBS1L):c.439G>A:p.Val147Ile	coding	Benign
6	135105435	A	G	A135105435G	-	NC_000006.12:g.135105435A>G	noncoding	Benign
6	135192546	T	C	T135192546C	MYB	NM_001130173.2(MYB):c.750T>C:p.Ser250=	coding	Benign
6	135194427	C	T	C135194427T	MYB	NM_001130173.2(MYB):c.915C>T:p.Thr305=	coding	Benign
6	135195806	C	T	C135195806T	MYB	NM_001130173.2(MYB):c.1007C>T:p.Thr336Ile	coding	Benign
6	135195921	C	T	C135195921T	MYB	NM_001130173.2(MYB):c.1122C>T:p.Cys374=	coding	Benign
6	135196970	T	C	T135196970C	MYB	NM_001130173.2(MYB):c.1213T>C:p.Ser405Pro	coding	Benign
6	135198969	C	A	C135198969A	MYB	NM_001130173.2(MYB):c.1628C>A:p.Thr543Asn	coding	Benign
6	135200142	A	G	A135200142G	MYB	NM_001130173.2(MYB):c.1767A>G:p.Thr589=	coding	Benign
6	135200151	A	G	A135200151G	MYB	NM_001130173.2(MYB):c.1776A>G:p.Lys592=	coding	Benign
6	135200284	G	T	G135200284T	MYB	NM_001130173.2(MYB):c.1825-6G>T	noncoding	Benign
6	135200367	T	C	T135200367C	MYB	NM_001130173.2(MYB):c.1902T>C:p.Ala634=	coding	Benign
6	135285427	G	A	G135285427A	AHI1	NM_001134831.2(AHI1):c.*218C>T	noncoding	Benign
6	135285617	C	G	C135285617G	AHI1	NM_001134831.2(AHI1):c.*28G>C	noncoding	Benign
6	135285753	T	C	T135285753C	AHI1	NM_001134831.2(AHI1):c.3589-106A>G	noncoding	Benign
6	135290432	A	G	A135290432G	AHI1	NM_001134831.2(AHI1):c.3579T>C:p.Thr1193=	coding	Benign/Likely_benign
6	135300462	C	G	C135300462G	AHI1	NM_001134831.2(AHI1):c.3485+38G>C	noncoding	Benign
6	135318506	C	T	C135318506T	AHI1	NM_001134831.2(AHI1):c.3426+13G>A	noncoding	Benign
6	135318577	G	A	G135318577A	AHI1	NM_001134831.2(AHI1):c.3368C>T:p.Ser1123Phe	coding	Benign/Likely_benign
6	135318623	T	C	T135318623C	AHI1	NM_001134831.2(AHI1):c.3329-7A>G	noncoding	Benign
6	135358090	C	G	C135358090G	AHI1	NM_001134831.2(AHI1):c.3165+42G>C	noncoding	Benign
6	135358133	G	A	G135358133A	AHI1	NM_001134831.2(AHI1):c.3164C>T:p.Thr1055Met	coding	Benign/Likely_benign
6	135394832	T	G	T135394832G	AHI1	NM_001134831.2(AHI1):c.3053A>C:p.Gln1018Pro	coding	Benign/Likely_benign
6	135394846	C	T	C135394846T	AHI1	NM_001134831.2(AHI1):c.3039G>A:p.Gln1013=	coding	Benign/Likely_benign
6	135394870	T	C	T135394870C	AHI1	NM_001134831.2(AHI1):c.3015A>G:p.Ser1005=	coding	Benign
6	135404967	C	T	C135404967T	AHI1	NM_001134831.2(AHI1):c.2972G>A:p.Arg991His	coding	Benign/Likely_benign
6	135404993	T	C	T135404993C	AHI1	NM_001134831.2(AHI1):c.2962-16A>G	noncoding	Benign/Likely_benign
6	135411393	A	C	A135411393C	AHI1	NM_001134831.2(AHI1):c.2916T>G:p.Ser972=	coding	Benign/Likely_benign
6	135427226	A	T	A135427226T	AHI1	NM_001134831.2(AHI1):c.2705T>A:p.Val902Asp	coding	Pathogenic
6	135427260	G	A	G135427260A	AHI1	NM_001134831.2(AHI1):c.2671C>T:p.Arg891Ter	coding	Pathogenic/Likely_pathogenic
6	135427313	T	C	T135427313C	AHI1	NM_001134831.2(AHI1):c.2624-6A>G	noncoding	Benign
6	135428628	C	A	C135428628A	AHI1	NM_001134831.2(AHI1):c.2623+1G>T	noncoding	Pathogenic
6	135428643	C	T	C135428643T	AHI1	NM_001134831.2(AHI1):c.2609G>A:p.Trp870Ter	coding	Pathogenic
6	135428663	C	T	C135428663T	AHI1	NM_001134831.2(AHI1):c.2589G>A:p.Glu863=	coding	Benign/Likely_benign
6	135428757	A	C	A135428757C	AHI1	NM_001134831.2(AHI1):c.2495T>G:p.Leu832Ter	coding	Pathogenic
6	135428761	T	C	T135428761C	AHI1	NM_001134831.2(AHI1):c.2493-2A>G	noncoding	Pathogenic
6	135429881	C	T	C135429881T	AHI1	NM_001134831.2(AHI1):c.2492+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	135429884	C	T	C135429884T	AHI1	NM_001134831.2(AHI1):c.2490G>A:p.Arg830=	coding	Benign/Likely_benign
6	135429886	G	A	G135429886A	AHI1	NM_001134831.2(AHI1):c.2488C>T:p.Arg830Trp	coding	Benign
6	135431136	T	C	T135431136C	AHI1	NM_001134831.2(AHI1):c.2373+72A>G	noncoding	Benign
6	135431220	C	A	C135431220A	AHI1	NM_001134831.2(AHI1):c.2361G>T:p.Trp787Cys	coding	Pathogenic
6	135431284	C	T	C135431284T	AHI1	NM_001134831.2(AHI1):c.2297G>A:p.Gly766Glu	coding	Pathogenic
6	135432907	A	G	A135432907G	AHI1	NM_001134831.2(AHI1):c.2266+120T>C	noncoding	Benign
6	135433070	A	G	A135433070G	AHI1	NM_001134831.2(AHI1):c.2223T>C:p.Asp741=	coding	Benign
6	135433081	G	A	G135433081A	AHI1	NM_001134831.2(AHI1):c.2212C>T:p.Arg738Ter	coding	Pathogenic
6	135433119	C	T	C135433119T	AHI1	NM_001134831.2(AHI1):c.2174G>A:p.Trp725Ter	coding	Pathogenic/Likely_pathogenic
6	135433125	C	T	C135433125T	AHI1	NM_001134831.2(AHI1):c.2168G>A:p.Arg723Gln	coding	Pathogenic/Likely_pathogenic
6	135433137	T	C	T135433137C	AHI1	NM_001134831.2(AHI1):c.2156A>G:p.Asp719Gly	coding	Pathogenic/Likely_pathogenic
6	135438374	C	A	C135438374A	AHI1	NM_001134831.2(AHI1):c.2036+1G>T	noncoding	Pathogenic
6	135438388	C	T	C135438388T	AHI1	NM_001134831.2(AHI1):c.2023G>A:p.Asp675Asn	coding	Pathogenic
6	135438399	G	A	G135438399A	AHI1	NM_001134831.2(AHI1):c.2012C>T:p.Thr671Ile	coding	Pathogenic
6	135438435	T	A	T135438435A	AHI1	NM_001134831.2(AHI1):c.1976A>T:p.Asp659Val	coding	Pathogenic
6	135438494	A	T	A135438494T	AHI1	NM_001134831.2(AHI1):c.1917T>A:p.Tyr639Ter	coding	Pathogenic
6	135438817	C	T	C135438817T	AHI1	NM_001134831.2(AHI1):c.1913-319G>A	noncoding	Benign
6	135442577	C	A	C135442577A	AHI1	NM_001134831.2(AHI1):c.1912+5G>T	noncoding	Pathogenic
6	135442633	C	A	C135442633A	AHI1	NM_001134831.2(AHI1):c.1861G>T:p.Gly621Ter	coding	Pathogenic
6	135442666	G	A	G135442666A	AHI1	NM_001134831.2(AHI1):c.1828C>T:p.Arg610Ter	coding	Pathogenic
6	135442703	G	A	G135442703A	AHI1	NM_001134831.2(AHI1):c.1791C>T:p.Ile597=	coding	Benign/Likely_benign
6	135442728	G	A	G135442728A	AHI1	NM_001134831.2(AHI1):c.1780-14C>T	noncoding	Benign
6	135442761	G	A	G135442761A	AHI1	NM_001134831.2(AHI1):c.1780-47C>T	noncoding	Benign/Likely_benign
6	135447022	G	A	G135447022A	AHI1	NM_001134831.2(AHI1):c.1765C>T:p.Arg589Ter	coding	Pathogenic
6	135447144	C	T	C135447144T	AHI1	NM_001134831.2(AHI1):c.1643G>A:p.Arg548His	coding	Benign
6	135448289	C	T	C135448289T	AHI1	NM_001134831.2(AHI1):c.1626+1G>A	noncoding	Pathogenic
6	135448400	G	A	G135448400A	AHI1	NM_001134831.2(AHI1):c.1516C>T:p.Arg506Ter	coding	Pathogenic
6	135448432	C	T	C135448432T	AHI1	NM_001134831.2(AHI1):c.1484G>A:p.Arg495His	coding	Pathogenic
6	135453377	T	C	T135453377C	AHI1	NM_001134831.2(AHI1):c.1404A>G:p.Glu468=	coding	Benign
6	135455750	A	T	A135455750T	AHI1	NM_001134831.2(AHI1):c.1328T>A:p.Val443Asp	coding	Pathogenic/Likely_pathogenic
6	135455775	G	A	G135455775A	AHI1	NM_001134831.2(AHI1):c.1303C>T:p.Arg435Ter	coding	Pathogenic
6	135455811	G	A	G135455811A	AHI1	NM_001134831.2(AHI1):c.1267C>T:p.Gln423Ter	coding	Pathogenic
6	135455818	C	T	C135455818T	AHI1	NM_001134831.2(AHI1):c.1260G>A:p.Trp420Ter	coding	Pathogenic
6	135455928	T	C	T135455928C	AHI1	NM_001134831.2(AHI1):c.1152-2A>G	noncoding	Pathogenic
6	135455937	A	C	A135455937C	AHI1	NM_001134831.2(AHI1):c.1152-11T>G	noncoding	Benign/Likely_benign
6	135457530	T	C	T135457530C	AHI1	NM_001134831.2(AHI1):c.1115A>G:p.Asp372Gly	coding	Pathogenic
6	135457575	G	C	G135457575C	AHI1	NM_001134831.2(AHI1):c.1070C>G:p.Ser357Ter	coding	Pathogenic
6	135457593	C	A	C135457593A	AHI1	NM_001134831.2(AHI1):c.1052G>T:p.Arg351Leu	coding	Pathogenic
6	135457594	G	A	G135457594A	AHI1	NM_001134831.2(AHI1):c.1051C>T:p.Arg351Ter	coding	Pathogenic
6	135457655	A	G	A135457655G	AHI1	NM_001134831.2(AHI1):c.990T>C:p.Asp330=	coding	Benign
6	135457660	G	A	G135457660A	AHI1	NM_001134831.2(AHI1):c.985C>T:p.Arg329Ter	coding	Pathogenic
6	135457723	T	C	T135457723C	AHI1	NM_001134831.2(AHI1):c.932-10A>G	noncoding	Benign/Likely_benign
6	135463252	T	G	T135463252G	AHI1	NM_001134831.2(AHI1):c.804A>C:p.Ser268=	coding	Benign
6	135465827	T	A	T135465827A	AHI1	NM_001134831.2(AHI1):c.736A>T:p.Lys246Ter	coding	Pathogenic
6	135465839	G	A	G135465839A	AHI1	NM_001134831.2(AHI1):c.724C>T:p.Pro242Ser	coding	Benign/Likely_benign
6	135465901	G	C	G135465901C	AHI1	NM_001134831.2(AHI1):c.662C>G:p.Ser221Ter	coding	Pathogenic
6	135466046	C	T	C135466046T	AHI1	NM_001134831.2(AHI1):c.517G>A:p.Ala173Thr	coding	Benign/Likely_benign
6	135466079	G	A	G135466079A	AHI1	NM_001134831.2(AHI1):c.484C>T:p.Gln162Ter	coding	Pathogenic
6	135490384	G	A	G135490384A	AHI1	NM_001134831.2(AHI1):c.135+239C>T	noncoding	Benign
6	135490439	G	C	G135490439C	AHI1	NM_001134831.2(AHI1):c.135+184C>G	noncoding	Benign
6	135490449	T	C	T135490449C	AHI1	NM_001134831.2(AHI1):c.135+174A>G	noncoding	Benign
6	135490686	A	G	A135490686G	AHI1	NM_001134831.2(AHI1):c.72T>C:p.Ser24=	coding	Benign/Likely_benign
6	135492113	G	T	G135492113T	AHI1	NM_001134831.2(AHI1):c.10+115C>A	noncoding	Benign
6	135497680	C	T	C135497680T	AHI1	NM_001134831.2(AHI1):c.-299G>A	noncoding	Benign
6	135497759	C	A	C135497759A	AHI1	NM_017651.4(AHI1):c.-293G>T	noncoding	Benign
6	136147433	G	A	G136147433A	PDE7B	NM_018945.4(PDE7B):c.249G>A:p.Arg83=	coding	Benign
6	136155644	G	A	G136155644A	PDE7B	NM_018945.4(PDE7B):c.597G>A:p.Thr199=	coding	Benign
6	136173871	T	C	T136173871C	PDE7B	NM_018945.4(PDE7B):c.786T>C:p.His262=	coding	Benign
6	136179077	A	G	A136179077G	PDE7B	NM_018945.4(PDE7B):c.884A>G:p.Lys295Arg	coding	Benign
6	136191834	C	G	C136191834G	PDE7B	NM_018945.4(PDE7B):c.1347C>G:p.Ser449Arg	coding	Benign
6	136231354	C	G	C136231354G	MTFR2	NM_001099286.3(MTFR2):c.1079G>C:p.Arg360Pro	coding	Benign
6	136261279	G	A	G136261279A	BCLAF1	NM_014739.3(BCLAF1):c.2743C>T:p.Arg915Cys	coding	Benign
6	136261359	G	T	G136261359T	BCLAF1	NM_014739.3(BCLAF1):c.2663C>A:p.Thr888Asn	coding	Benign
6	136268287	G	T	G136268287T	BCLAF1	NM_014739.3(BCLAF1):c.2272C>A:p.Pro758Thr	coding	Benign
6	136269560	C	T	C136269560T	BCLAF1	NM_014739.3(BCLAF1):c.2096G>A:p.Arg699His	coding	Benign
6	136278253	C	T	C136278253T	BCLAF1	NM_014739.3(BCLAF1):c.628G>A:p.Gly210Ser	coding	Benign
6	136567644	T	C	T136567644C	MAP3K5	NM_005923.4(MAP3K5):c.3748A>G:p.Ile1250Val	coding	Benign
6	136583645	G	A	G136583645A	MAP3K5	NM_005923.4(MAP3K5):c.3321C>T:p.Ala1107=	coding	Benign
6	136592478	G	A	G136592478A	MAP3K5	NM_005923.4(MAP3K5):c.3015C>T:p.Cys1005=	coding	Benign
6	136614151	T	C	T136614151C	MAP3K5	NM_005923.4(MAP3K5):c.2278+8A>G	noncoding	Benign
6	136622838	A	G	A136622838G	MAP3K5	NM_005923.4(MAP3K5):c.2150+10T>C	noncoding	Benign
6	136642511	G	A	G136642511A	MAP3K5	NM_005923.4(MAP3K5):c.1838+9C>T	noncoding	Benign
6	136659248	T	C	T136659248C	MAP3K5	NM_005923.4(MAP3K5):c.1497A>G:p.Glu499=	coding	Benign
6	136792134	G	A	G136792134A	MAP3K5	NM_005923.4(MAP3K5):c.24C>T:p.Gly8=	coding	Benign
6	136822571	T	C	T136822571C	PEX7	NC_000006.12:g.136822571T>C	noncoding	Benign
6	136822601	A	T	A136822601T	PEX7	NM_000288.4(PEX7):c.-65A>T	noncoding	Benign
6	136822610	C	T	C136822610T	PEX7	NM_000288.4(PEX7):c.-56C>T	noncoding	Benign
6	136822621	C	T	C136822621T	PEX7	NM_000288.4(PEX7):c.-45C>T	noncoding	Pathogenic
6	136822635	G	A	G136822635A	PEX7	NM_000288.4(PEX7):c.-31G>A	noncoding	Benign/Likely_benign
6	136822705	A	C	A136822705C	PEX7	NM_000288.4(PEX7):c.40A>C:p.Thr14Pro	coding	Pathogenic
6	136822785	C	G	C136822785G	PEX7	NM_000288.4(PEX7):c.120C>G:p.Tyr40Ter	coding	Pathogenic
6	136822796	G	A	G136822796A	PEX7	NM_000288.4(PEX7):c.130+1G>A	coding	Pathogenic
6	136825272	G	A	G136825272A	PEX7	NM_000288.4(PEX7):c.188+1G>A	coding	Pathogenic
6	136825272	G	C	G136825272C	PEX7	NM_000288.4(PEX7):c.188+1G>C	coding	Pathogenic/Likely_pathogenic
6	136845544	G	A	G136845544A	PEX7	NM_000288.4(PEX7):c.340-71G>A	noncoding	Benign
6	136845620	T	G	T136845620G	PEX7	NM_000288.4(PEX7):c.345T>G:p.Tyr115Ter	coding	Pathogenic/Likely_pathogenic
6	136845632	G	A	G136845632A	PEX7	NM_000288.4(PEX7):c.357G>A:p.Trp119Ter	coding	Pathogenic
6	136846307	T	C	T136846307C	PEX7	NM_000288.4(PEX7):c.526+126T>C	noncoding	Benign
6	136866468	T	A	T136866468A	PEX7	NM_000288.4(PEX7):c.527-159T>A	noncoding	Benign
6	136866503	G	A	G136866503A	PEX7	NM_000288.4(PEX7):c.527-124G>A	noncoding	Benign
6	136866692	C	T	C136866692T	PEX7	NM_000288.4(PEX7):c.592C>T:p.Gln198Ter	coding	Pathogenic/Likely_pathogenic
6	136866718	G	A	G136866718A	PEX7	NM_000288.4(PEX7):c.618G>A:p.Trp206Ter	coding	Pathogenic/Likely_pathogenic
6	136869905	G	A	G136869905A	PEX7	NM_000288.4(PEX7):c.649G>A:p.Gly217Arg	coding	Pathogenic/Likely_pathogenic
6	136869909	C	T	C136869909T	PEX7	NM_000288.4(PEX7):c.653C>T:p.Ala218Val	coding	Pathogenic/Likely_pathogenic
6	136869950	C	T	C136869950T	PEX7	NM_000288.4(PEX7):c.694C>T:p.Arg232Ter	coding	Pathogenic
6	136872298	A	G	A136872298G	PEX7	NM_000288.4(PEX7):c.803+45A>G	noncoding	Benign
6	136872358	A	C	A136872358C	PEX7	NM_000288.4(PEX7):c.803+105A>C	noncoding	Benign
6	136898192	A	G	A136898192G	PEX7	NM_000288.4(PEX7):c.854A>G:p.His285Arg	coding	Pathogenic
6	136898213	T	A	T136898213A	PEX7	NM_000288.4(PEX7):c.875T>A:p.Leu292Ter	coding	Pathogenic
6	136898242	G	C	G136898242C	PEX7	NM_000288.4(PEX7):c.903+1G>C	coding	Pathogenic
6	136913832	T	G	T136913832G	PEX7	NM_000288.4(PEX7):c.*306T>G	noncoding	Benign
6	136924429	C	A	C136924429A	SLC35D3	NM_001008783.3(SLC35D3):c.984C>A:p.Asp328Glu	coding	Benign
6	137197814	A	T	A137197814T	IFNGR1	NM_000416.2(IFNGR1):c.*217T>A	noncoding	Benign
6	137197825	T	C	T137197825C	IFNGR1	NM_000416.2(IFNGR1):c.*206A>G	noncoding	Benign
6	137197990	C	T	C137197990T	IFNGR1	NM_000416.3(IFNGR1):c.*41G>A	noncoding	Benign
6	137198101	A	G	A137198101G	IFNGR1	NM_000416.2(IFNGR1):c.1400T>C:p.Leu467Pro	coding	Benign
6	137198400	C	T	C137198400T	IFNGR1	NM_000416.2(IFNGR1):c.1101G>A:p.Pro367=	coding	Benign/Likely_benign
6	137198451	A	C	A137198451C	IFNGR1	NM_000416.3(IFNGR1):c.1050T>G:p.Ser350=	coding	Benign
6	137198497	T	G	T137198497G	IFNGR1	NM_000416.2(IFNGR1):c.1004A>C:p.His335Pro	coding	Benign/Likely_benign
6	137198643	T	C	T137198643C	IFNGR1	NM_000416.3(IFNGR1):c.862-4A>G	noncoding	Benign
6	137204340	C	T	C137204340T	IFNGR1	NM_000416.2(IFNGR1):c.538G>A:p.Gly180Arg	coding	Benign/Likely_benign
6	137204356	C	T	C137204356T	IFNGR1	NM_000416.2(IFNGR1):c.522G>A:p.Val174=	coding	Benign
6	137204389	G	A	G137204389A	IFNGR1	NM_000416.2(IFNGR1):c.489C>T:p.Pro163=	coding	Benign/Likely_benign
6	137204432	G	T	G137204432T	IFNGR1	NM_000416.2(IFNGR1):c.446C>A:p.Ser149Ter	coding	Pathogenic
6	137206173	G	A	G137206173A	IFNGR1	NM_000416.3(IFNGR1):c.336C>T:p.Ala112=	coding	Benign
6	137206249	A	G	A137206249G	IFNGR1	NM_000416.2(IFNGR1):c.260T>C:p.Ile87Thr	coding	Pathogenic
6	137206279	C	T	C137206279T	IFNGR1	NM_000416.2(IFNGR1):c.230G>A:p.Cys77Tyr	coding	Pathogenic
6	137206293	T	C	T137206293C	IFNGR1	NM_000416.3(IFNGR1):c.216A>G:p.Glu72=	coding	Benign
6	137206945	T	C	T137206945C	IFNGR1	NM_000416.2(IFNGR1):c.200+18A>G	noncoding	Benign
6	137206948	A	C	A137206948C	IFNGR1	NM_000416.2(IFNGR1):c.200+15T>G	noncoding	Benign/Likely_benign
6	137206962	C	T	C137206962T	IFNGR1	NM_000416.2(IFNGR1):c.200+1G>A	noncoding	Pathogenic
6	137206981	A	T	A137206981T	IFNGR1	NM_000416.2(IFNGR1):c.182T>A:p.Val61Glu	coding	Pathogenic
6	137206982	C	T	C137206982T	IFNGR1	NM_000416.2(IFNGR1):c.181G>A:p.Val61Ile	coding	Benign/Likely_benign
6	137207028	G	A	G137207028A	IFNGR1	NM_000416.2(IFNGR1):c.135C>T:p.Ile45=	coding	Benign/Likely_benign
6	137219233	A	G	A137219233G	IFNGR1	NM_000416.3(IFNGR1):c.85+10T>C	noncoding	Benign
6	137219280	C	T	C137219280T	IFNGR1	NM_000416.2(IFNGR1):c.48G>A:p.Arg16=	coding	Benign
6	137219286	C	T	C137219286T	IFNGR1	NM_000416.2(IFNGR1):c.42G>A:p.Val14=	coding	Benign/Likely_benign
6	137219326	A	T	A137219326T	IFNGR1	NM_000416.2(IFNGR1):c.2T>A:p.Met1Lys	coding	Pathogenic
6	137219383	A	G	A137219383G	IFNGR1	NM_000416.2(IFNGR1):c.-56T>C	noncoding	Benign
6	137219399	G	A	G137219399A	IFNGR1	NM_000416.2(IFNGR1):c.-72C>T	noncoding	Benign
6	137871530	T	C	T137871530C	TNFAIP3	NM_001270508.2(TNFAIP3):c.295+8T>C	noncoding	Benign
6	137874854	A	G	A137874854G	TNFAIP3	NM_001270508.2(TNFAIP3):c.305A>G:p.Asn102Ser	coding	Benign
6	137874871	A	G	A137874871G	TNFAIP3	NM_001270508.2(TNFAIP3):c.322A>G:p.Thr108Ala	coding	Benign
6	137875680	C	G	C137875680G	TNFAIP3	NM_001270508.2(TNFAIP3):c.487-8C>G	noncoding	Benign
6	137875820	A	C	A137875820C	TNFAIP3	NM_001270508.2(TNFAIP3):c.619A>C:p.Ile207Leu	coding	Benign
6	137876041	T	A	T137876041A	TNFAIP3	NM_001270508.2(TNFAIP3):c.680T>A:p.Leu227Ter	coding	Pathogenic
6	137876088	T	C	T137876088C	TNFAIP3	NM_001270508.2(TNFAIP3):c.727T>C:p.Cys243Arg	coding	Pathogenic
6	137877081	C	T	C137877081T	TNFAIP3	NM_001270508.2(TNFAIP3):c.811C>T:p.Arg271Ter	coding	Pathogenic
6	137877188	C	G	C137877188G	TNFAIP3	NM_001270508.2(TNFAIP3):c.918C>G:p.Tyr306Ter	coding	Pathogenic
6	137881121	G	A	G137881121A	TNFAIP3	NM_001270508.2(TNFAIP3):c.2175G>A:p.Leu725=	coding	Benign
6	137881241	C	T	C137881241T	TNFAIP3	NM_001270508.2(TNFAIP3):c.2295C>T:p.Pro765=	coding	Benign
6	138096415	G	A	G138096415A	PERP	NM_022121.5(PERP):c.294C>T:p.Ala98=	coding	Benign
6	138107216	C	A	C138107216A	PERP	NM_022121.5(PERP):c.125G>T:p.Gly42Val	coding	Benign
6	138107242	G	A	G138107242A	PERP	NM_022121.5(PERP):c.99C>T:p.Arg33=	coding	Benign
6	138107271	C	A	C138107271A	PERP	NM_022121.5(PERP):c.70G>T:p.Ala24Ser	coding	Benign
6	138210011	C	T	C138210011T	ARFGEF3	NM_020340.5(ARFGEF3):c.321C>T:p.Leu107=	coding	Benign
6	138262719	C	T	C138262719T	ARFGEF3	NM_020340.5(ARFGEF3):c.1236C>T:p.Thr412=	coding	Benign
6	138262731	C	T	C138262731T	ARFGEF3	NM_020340.5(ARFGEF3):c.1248C>T:p.Ile416=	coding	Benign
6	138262830	T	G	T138262830G	ARFGEF3	NM_020340.5(ARFGEF3):c.1347T>G:p.Gly449=	coding	Benign
6	138262877	C	G	C138262877G	ARFGEF3	NM_020340.5(ARFGEF3):c.1394C>G:p.Ala465Gly	coding	Benign
6	138263594	C	T	C138263594T	ARFGEF3	NM_020340.5(ARFGEF3):c.2111C>T:p.Ala704Val	coding	Benign
6	138307378	G	T	G138307378T	ARFGEF3	NM_020340.5(ARFGEF3):c.3954G>T:p.Leu1318=	coding	Benign
6	138317246	T	C	T138317246C	ARFGEF3	NM_020340.5(ARFGEF3):c.4346-5T>C	noncoding	Benign
6	138321170	G	A	G138321170A	ARFGEF3	NM_020340.5(ARFGEF3):c.4711G>A:p.Ala1571Thr	coding	Benign
6	138323746	G	A	G138323746A	ARFGEF3	NM_020340.5(ARFGEF3):c.4842G>A:p.Ala1614=	coding	Benign
6	138334270	C	G	C138334270G	ARFGEF3	NM_020340.5(ARFGEF3):c.5424C>G:p.Arg1808=	coding	Benign
6	138334462	G	A	G138334462A	ARFGEF3	NM_020340.5(ARFGEF3):c.5616G>A:p.Pro1872=	coding	Benign
6	138334938	A	G	A138334938G	ARFGEF3	NM_020340.5(ARFGEF3):c.6092A>G:p.Lys2031Arg	coding	Benign
6	138424420	G	C	G138424420C	NHSL1	NM_020464.2(NHSL1):c.4494C>G:p.Gly1498=	coding	Benign
6	138424771	G	A	G138424771A	NHSL1	NM_020464.2(NHSL1):c.4143C>T:p.His1381=	coding	Benign
6	138432050	C	T	C138432050T	NHSL1	NM_020464.2(NHSL1):c.2307G>A:p.Ser769=	coding	Benign
6	138432794	C	T	C138432794T	NHSL1	NM_020464.2(NHSL1):c.1563G>A:p.Pro521=	coding	Benign
6	138432944	G	A	G138432944A	NHSL1	NM_020464.2(NHSL1):c.1413C>T:p.Pro471=	coding	Benign
6	138447163	A	C	A138447163C	NHSL1	NM_020464.2(NHSL1):c.514T>G:p.Phe172Val	coding	Benign
6	138945364	T	G	T138945364G	REPS1	NM_001286611.1(REPS1):c.483A>C:p.Ala161=	coding	Benign
6	138945531	C	T	C138945531T	REPS1	NM_001286611.1(REPS1):c.444G>A:p.Thr148=	coding	Benign
6	138945637	G	T	G138945637T	REPS1	NM_001286611.1(REPS1):c.338C>A:p.Ala113Glu	coding	Pathogenic
6	138947835	C	G	C138947835G	REPS1	NM_031922.4(REPS1):c.232G>C:p.Val78Leu	coding	Pathogenic
6	139373288	G	A	G139373288A	CITED2	NM_006079.5(CITED2):c.657C>T:p.Asp219=	coding	Benign
6	139373363	G	A	G139373363A	CITED2	NM_006079.5(CITED2):c.582C>T:p.Gly194=	coding	Benign
6	139373371	T	C	T139373371C	CITED2	NM_006079.5(CITED2):c.574A>G:p.Ser192Gly	coding	Benign/Likely_benign
6	139373435	C	G	C139373435G	CITED2	NM_006079.5(CITED2):c.510G>C:p.Ser170=	coding	Benign
6	139373933	A	G	A139373933G	CITED2	NM_006079.5(CITED2):c.12T>C:p.His4=	coding	Benign
6	142088521	G	A	G142088521A	NMBR	NM_002511.3(NMBR):c.138C>T:p.Ile46=	coding	Benign
6	142309560	C	T	C142309560T	ADGRG6	NM_198569.3(ADGRG6):c.19C>T:p.Arg7Ter	coding	Pathogenic
6	142367674	C	T	C142367674T	ADGRG6	NM_198569.3(ADGRG6):c.209C>T:p.Thr70Met	coding	Benign
6	142367819	A	G	A142367819G	ADGRG6	NM_198569.3(ADGRG6):c.354A>G:p.Leu118=	coding	Benign
6	142367905	T	A	T142367905A	ADGRG6	NM_198569.3(ADGRG6):c.440T>A:p.Ile147Asn	coding	Benign
6	142370306	T	A	T142370306A	ADGRG6	NM_198569.3(ADGRG6):c.582T>A:p.His194Gln	coding	Benign
6	142370518	G	C	G142370518C	ADGRG6	NM_198569.3(ADGRG6):c.794G>C:p.Gly265Ala	coding	Benign/Likely_benign
6	142370640	G	T	G142370640T	ADGRG6	NM_198569.3(ADGRG6):c.916G>T:p.Asp306Tyr	coding	Benign
6	142392980	G	A	G142392980A	ADGRG6	NM_198569.3(ADGRG6):c.1341G>A:p.Thr447=	coding	Benign
6	142397664	G	A	G142397664A	ADGRG6	NM_198569.3(ADGRG6):c.1476G>A:p.Leu492=	coding	Benign
6	142408187	T	A	T142408187A	ADGRG6	NM_198569.3(ADGRG6):c.2306T>A:p.Val769Glu	coding	Pathogenic
6	142415911	C	T	C142415911T	ADGRG6	NM_198569.3(ADGRG6):c.2785C>T:p.Leu929Phe	coding	Benign
6	142437494	A	G	A142437494G	ADGRG6	NM_198569.3(ADGRG6):c.3380A>G:p.Gln1127Arg	coding	Benign
6	142438209	C	T	C142438209T	ADGRG6	NM_198569.3(ADGRG6):c.3422-3C>T	noncoding	Benign
6	142443363	T	C	T142443363C	ADGRG6	NM_198569.3(ADGRG6):c.3601T>C:p.Ser1201Pro	coding	Benign
6	142753412	G	A	G142753412A	HIVEP2	NM_006734.4(HIVEP2):c.7036C>T:p.Leu2346Phe	coding	Benign/Likely_benign
6	142753484	G	A	G142753484A	HIVEP2	NM_006734.4(HIVEP2):c.6964C>T:p.Gln2322Ter	coding	Pathogenic
6	142753495	G	T	G142753495T	HIVEP2	NM_006734.4(HIVEP2):c.6953C>A:p.Thr2318Lys	coding	Benign
6	142753563	T	C	T142753563C	HIVEP2	NM_006734.4(HIVEP2):c.6885A>G:p.Pro2295=	coding	Benign
6	142753590	A	T	A142753590T	HIVEP2	NM_006734.4(HIVEP2):c.6858T>A:p.Gly2286=	coding	Benign
6	142753781	G	A	G142753781A	HIVEP2	NM_006734.4(HIVEP2):c.6667C>T:p.Arg2223Ter	coding	Pathogenic
6	142753936	G	A	G142753936A	HIVEP2	NM_006734.4(HIVEP2):c.6517-5C>T	noncoding	Benign
6	142759813	C	A	C142759813A	HIVEP2	NM_006734.4(HIVEP2):c.6475G>T:p.Gly2159Ter	coding	Pathogenic
6	142759859	C	T	C142759859T	HIVEP2	NM_006734.4(HIVEP2):c.6429G>A:p.Ala2143=	coding	Benign
6	142760353	G	A	G142760353A	HIVEP2	NM_006734.4(HIVEP2):c.5935C>T:p.Arg1979Ter	coding	Pathogenic
6	142760602	G	A	G142760602A	HIVEP2	NM_006734.4(HIVEP2):c.5686C>T:p.Gln1896Ter	coding	Pathogenic
6	142761501	T	C	T142761501C	HIVEP2	NM_006734.4(HIVEP2):c.5583A>G:p.Ser1861=	coding	Benign
6	142764920	G	A	G142764920A	HIVEP2	NM_006734.4(HIVEP2):c.5397C>T:p.Tyr1799=	coding	Benign
6	142769926	C	G	C142769926G	HIVEP2	NM_006734.4(HIVEP2):c.4813G>C:p.Val1605Leu	coding	Benign
6	142770083	C	T	C142770083T	HIVEP2	NM_006734.4(HIVEP2):c.4656G>A:p.Pro1552=	coding	Benign
6	142770446	G	A	G142770446A	HIVEP2	NM_006734.4(HIVEP2):c.4293C>T:p.Ser1431=	coding	Benign
6	142770473	G	A	G142770473A	HIVEP2	NM_006734.4(HIVEP2):c.4266C>T:p.Pro1422=	coding	Benign
6	142770543	G	C	G142770543C	HIVEP2	NM_006734.4(HIVEP2):c.4196C>G:p.Ala1399Gly	coding	Benign
6	142770599	G	A	G142770599A	HIVEP2	NM_006734.4(HIVEP2):c.4140C>T:p.Thr1380=	coding	Benign
6	142770785	A	G	A142770785G	HIVEP2	NM_006734.4(HIVEP2):c.3954T>C:p.Phe1318=	coding	Benign
6	142770926	A	G	A142770926G	HIVEP2	NM_006734.4(HIVEP2):c.3813T>C:p.Tyr1271=	coding	Benign
6	142770932	A	G	A142770932G	HIVEP2	NM_006734.4(HIVEP2):c.3807T>C:p.Ala1269=	coding	Benign
6	142770997	G	A	G142770997A	HIVEP2	NM_006734.4(HIVEP2):c.3742C>T:p.Gln1248Ter	coding	Pathogenic
6	142771183	G	A	G142771183A	HIVEP2	NM_006734.4(HIVEP2):c.3556C>T:p.Gln1186Ter	coding	Pathogenic
6	142771282	G	A	G142771282A	HIVEP2	NM_006734.4(HIVEP2):c.3457C>T:p.Leu1153=	coding	Benign
6	142771291	G	A	G142771291A	HIVEP2	NM_006734.4(HIVEP2):c.3448C>T:p.Pro1150Ser	coding	Benign
6	142771295	C	G	C142771295G	HIVEP2	NM_006734.4(HIVEP2):c.3444G>C:p.Ser1148=	coding	Benign
6	142771433	G	A	G142771433A	HIVEP2	NM_006734.4(HIVEP2):c.3306C>T:p.Ser1102=	coding	Benign
6	142771526	C	T	C142771526T	HIVEP2	NM_006734.4(HIVEP2):c.3213G>A:p.Pro1071=	coding	Benign
6	142771534	C	A	C142771534A	HIVEP2	NM_006734.4(HIVEP2):c.3205G>T:p.Val1069Leu	coding	Benign
6	142771598	C	T	C142771598T	HIVEP2	NM_006734.4(HIVEP2):c.3141G>A:p.Arg1047=	coding	Benign
6	142771834	G	A	G142771834A	HIVEP2	NM_006734.4(HIVEP2):c.2905C>T:p.Gln969Ter	coding	Pathogenic
6	142771882	C	A	C142771882A	HIVEP2	NM_006734.4(HIVEP2):c.2857G>T:p.Glu953Ter	coding	Pathogenic
6	142771912	G	A	G142771912A	HIVEP2	NM_006734.4(HIVEP2):c.2827C>T:p.Arg943Ter	coding	Pathogenic
6	142771945	C	T	C142771945T	HIVEP2	NM_006734.4(HIVEP2):c.2794G>A:p.Ala932Thr	coding	Benign
6	142771946	G	A	G142771946A	HIVEP2	NM_006734.4(HIVEP2):c.2793C>T:p.Pro931=	coding	Benign
6	142772372	T	C	T142772372C	HIVEP2	NM_006734.4(HIVEP2):c.2367A>G:p.Leu789=	coding	Benign
6	142772390	T	C	T142772390C	HIVEP2	NM_006734.4(HIVEP2):c.2349A>G:p.Ser783=	coding	Benign
6	142772561	G	A	G142772561A	HIVEP2	NM_006734.4(HIVEP2):c.2178C>T:p.Ser726=	coding	Benign
6	142772786	A	G	A142772786G	HIVEP2	NM_006734.4(HIVEP2):c.1953T>C:p.Ser651=	coding	Benign
6	142772858	T	C	T142772858C	HIVEP2	NM_006734.4(HIVEP2):c.1881A>G:p.Lys627=	coding	Benign
6	142773431	A	G	A142773431G	HIVEP2	NM_006734.4(HIVEP2):c.1308T>C:p.Asn436=	coding	Benign
6	142773706	T	C	T142773706C	HIVEP2	NM_006734.4(HIVEP2):c.1033A>G:p.Ile345Val	coding	Benign/Likely_benign
6	142774481	C	T	C142774481T	HIVEP2	NM_006734.4(HIVEP2):c.258G>A:p.Pro86=	coding	Benign
6	142774574	G	A	G142774574A	HIVEP2	NM_006734.4(HIVEP2):c.165C>T:p.Ile55=	coding	Benign
6	143450846	T	C	T143450846C	PEX3	NM_003630.3(PEX3):c.-197T>C	noncoding	Benign
6	143451039	A	G	A143451039G	PEX3	NM_003630.3(PEX3):c.-4A>G	noncoding	Benign/Likely_benign
6	143462955	A	G	A143462955G	PEX3	NM_003630.3(PEX3):c.245A>G:p.Gln82Arg	coding	Benign
6	143468121	G	A	G143468121A	PEX3	NM_003630.3(PEX3):c.288-1G>A	noncoding	Pathogenic
6	143470941	C	G	C143470941G	PEX3	NM_003630.3(PEX3):c.332-20C>G	noncoding	Benign
6	143471469	C	T	C143471469T	PEX3	NM_003630.3(PEX3):c.523+20C>T	noncoding	Benign
6	143471474	A	G	A143471474G	PEX3	NM_003630.3(PEX3):c.523+25A>G	noncoding	Benign
6	143471538	T	C	T143471538C	PEX3	NM_003630.3(PEX3):c.524-19T>C	noncoding	Benign
6	143479113	C	A	C143479113A	PEX3	NM_003630.3(PEX3):c.856C>A:p.Arg286=	coding	Benign
6	143479113	C	T	C143479113T	PEX3	NM_003630.3(PEX3):c.856C>T:p.Arg286Ter	coding	Pathogenic
6	143479155	C	T	C143479155T	PEX3	NM_003630.3(PEX3):c.898C>T:p.Arg300Ter	coding	Pathogenic
6	143485139	A	G	A143485139G	PEX3	NM_003630.3(PEX3):c.942-13A>G	noncoding	Benign
6	143485144	T	G	T143485144G	PEX3	NM_003630.3(PEX3):c.942-8T>G	noncoding	Pathogenic
6	143485218	T	C	T143485218C	PEX3	NM_003630.3(PEX3):c.1008T>C:p.Val336=	coding	Benign
6	143489431	C	A	C143489431A	PEX3	NM_003630.3(PEX3):c.*205C>A	noncoding	Benign
6	143489545	A	T	A143489545T	PEX3	NM_003630.3(PEX3):c.*319A>T	noncoding	Benign
6	143489772	A	G	A143489772G	PEX3	NM_003630.3(PEX3):c.*546A>G	noncoding	Benign
6	143501937	A	G	A143501937G	FUCA2	NM_032020.5(FUCA2):c.1149T>C:p.Asp383=	coding	Benign
6	143502129	A	T	A143502129T	FUCA2	NM_032020.5(FUCA2):c.964-7T>A	noncoding	Benign
6	143504257	A	G	A143504257G	FUCA2	NM_032020.5(FUCA2):c.413-5T>C	noncoding	Benign
6	143860512	A	G	A143860512G	LTV1	NM_032860.5(LTV1):c.882A>G:p.Leu294=	coding	Benign
6	143862132	T	C	T143862132C	LTV1	NM_032860.5(LTV1):c.952T>C:p.Leu318=	coding	Benign
6	143862214	A	G	A143862214G	LTV1	NM_032860.5(LTV1):c.1034A>G:p.Lys345Arg	coding	Benign
6	143941646	G	T	G143941646T	PLAGL1	NM_001317162.2(PLAGL1):c.1170C>A:p.Pro390=	coding	Benign
6	143941931	C	T	C143941931T	PLAGL1	NM_001317162.2(PLAGL1):c.885G>A:p.Pro295=	coding	Benign
6	143942001	G	A	G143942001A	PLAGL1	NM_001317162.2(PLAGL1):c.815C>T:p.Ala272Val	coding	Benign
6	143942003	G	A	G143942003A	PLAGL1	NM_001317162.2(PLAGL1):c.813C>T:p.Ala271=	coding	Benign
6	143942137	T	C	T143942137C	PLAGL1	NM_001317162.2(PLAGL1):c.679A>G:p.Thr227Ala	coding	Benign
6	143942175	T	C	T143942175C	PLAGL1	NM_001317162.2(PLAGL1):c.641A>G:p.Glu214Gly	coding	Benign
6	143942210	A	G	A143942210G	PLAGL1	NM_001317162.2(PLAGL1):c.606T>C:p.His202=	coding	Benign
6	143942387	C	T	C143942387T	PLAGL1	NM_001317162.2(PLAGL1):c.429G>A:p.Ala143=	coding	Benign
6	143942395	C	A	C143942395A	PLAGL1	NM_001317162.2(PLAGL1):c.421G>T:p.Ala141Ser	coding	Benign
6	144150622	C	T	C144150622T	STX11	NM_003764.4(STX11):c.-87C>T	noncoding	Benign
6	144186773	G	A	G144186773A	STX11	NM_003764.4(STX11):c.146G>A:p.Arg49Gln	coding	Benign
6	144187173	G	A	G144187173A	STX11	NM_003764.4(STX11):c.546G>A:p.Glu182=	coding	Benign/Likely_benign
6	144187426	G	A	G144187426A	STX11	NM_003764.4(STX11):c.799G>A:p.Val267Met	coding	Benign/Likely_benign
6	144187429	C	T	C144187429T	STX11	NM_003764.4(STX11):c.802C>T:p.Gln268Ter	coding	Pathogenic
6	144187456	A	G	A144187456G	STX11	NM_003764.4(STX11):c.829A>G:p.Thr277Ala	coding	Benign
6	144187466	G	A	G144187466A	STX11	NM_003764.4(STX11):c.839G>A:p.Cys280Tyr	coding	Benign/Likely_benign
6	144187561	G	A	G144187561A	STX11	NM_003764.4(STX11):c.*70G>A	noncoding	Benign
6	144188097	C	G	C144188097G	STX11	NM_003764.4(STX11):c.*606C>G	noncoding	Benign
6	144188373	T	C	T144188373C	STX11	NM_003764.4(STX11):c.*882T>C	noncoding	Benign
6	144188641	A	G	A144188641G	STX11	NM_003764.4(STX11):c.*1150A>G	noncoding	Benign
6	144189789	C	T	C144189789T	STX11	NM_003764.4(STX11):c.*2298C>T	noncoding	Benign
6	144190277	T	C	T144190277C	STX11	NM_003764.4(STX11):c.*2786T>C	noncoding	Benign
6	144190705	C	G	C144190705G	STX11	NM_003764.4(STX11):c.*3214C>G	noncoding	Benign
6	144190836	T	C	T144190836C	STX11	NM_003764.4(STX11):c.*3345T>C	noncoding	Benign
6	144191090	A	G	A144191090G	STX11	NM_003764.4(STX11):c.*3599A>G	noncoding	Benign
6	144191240	T	C	T144191240C	STX11	NM_003764.4(STX11):c.*3749T>C	noncoding	Benign
6	144191271	C	T	C144191271T	STX11	NM_003764.4(STX11):c.*3780C>T	noncoding	Benign
6	144191346	A	G	A144191346G	STX11	NM_003764.4(STX11):c.*3855A>G	noncoding	Benign
6	144191632	G	A	G144191632A	STX11	NM_003764.4(STX11):c.*4141G>A	noncoding	Benign
6	144191852	C	T	C144191852T	STX11	NM_003764.4(STX11):c.*4361C>T	noncoding	Benign
6	144191864	T	A	T144191864A	STX11	NM_003764.4(STX11):c.*4373T>A	noncoding	Benign
6	144428886	T	C	T144428886C	UTRN	NM_007124.2(UTRN):c.687T>C:p.Asp229=	coding	Benign
6	144436043	C	T	C144436043T	UTRN	NM_007124.2(UTRN):c.964C>T:p.Leu322=	coding	Benign
6	144453778	G	T	G144453778T	UTRN	NM_007124.2(UTRN):c.2197-4G>T	noncoding	Benign
6	144458822	A	G	A144458822G	UTRN	NM_007124.2(UTRN):c.2337A>G:p.Glu779=	coding	Benign
6	144461235	T	C	T144461235C	UTRN	NM_007124.2(UTRN):c.2746T>C:p.Leu916=	coding	Benign
6	144479874	C	T	C144479874T	UTRN	NM_007124.2(UTRN):c.3399C>T:p.Asp1133=	coding	Benign
6	144485468	G	A	G144485468A	UTRN	NM_007124.2(UTRN):c.3771G>A:p.Lys1257=	coding	Benign
6	144490183	A	G	A144490183G	UTRN	NM_007124.2(UTRN):c.4247A>G:p.Gln1416Arg	coding	Benign
6	144491111	T	C	T144491111C	UTRN	NM_007124.2(UTRN):c.4437+9T>C	noncoding	Benign
6	144499249	C	T	C144499249T	UTRN	NM_007124.2(UTRN):c.4594-8C>T	noncoding	Benign
6	144499289	A	C	A144499289C	UTRN	NM_007124.2(UTRN):c.4626A>C:p.Ala1542=	coding	Benign
6	144513923	G	A	G144513923A	UTRN	NM_007124.2(UTRN):c.4959G>A:p.Gln1653=	coding	Benign
6	144516932	G	A	G144516932A	UTRN	NM_007124.2(UTRN):c.5525G>A:p.Arg1842Lys	coding	Benign
6	144522072	A	C	A144522072C	UTRN	NM_007124.2(UTRN):c.5634A>C:p.Lys1878Asn	coding	Benign
6	144522127	A	C	A144522127C	UTRN	NM_007124.2(UTRN):c.5689A>C:p.Thr1897Pro	coding	Benign
6	144523027	C	T	C144523027T	UTRN	NM_007124.2(UTRN):c.5745C>T:p.Asp1915=	coding	Benign
6	144523181	C	T	C144523181T	UTRN	NM_007124.2(UTRN):c.5899C>T:p.Arg1967Trp	coding	Benign
6	144533206	G	A	G144533206A	UTRN	NM_007124.2(UTRN):c.6179G>A:p.Gly2060Asp	coding	Benign
6	144539312	G	A	G144539312A	UTRN	NM_007124.2(UTRN):c.6388G>A:p.Glu2130Lys	coding	Benign
6	144539392	A	G	A144539392G	UTRN	NM_007124.2(UTRN):c.6468A>G:p.Glu2156=	coding	Benign
6	144548708	A	G	A144548708G	UTRN	NM_007124.2(UTRN):c.6664A>G:p.Thr2222Ala	coding	Benign
6	144751850	G	A	G144751850A	UTRN	NM_007124.2(UTRN):c.8253G>A:p.Thr2751=	coding	Benign
6	144793873	A	T	A144793873T	UTRN	NM_007124.2(UTRN):c.8960A>T:p.Asp2987Val	coding	Benign
6	144793901	T	C	T144793901C	UTRN	NM_007124.2(UTRN):c.8988T>C:p.His2996=	coding	Benign
6	145627509	C	G	C145627509G	EPM2A	NM_005670.4(EPM2A):c.903G>C:p.Pro301=	coding	Benign/Likely_benign
6	145627534	T	A	T145627534A	EPM2A	NM_005670.4(EPM2A):c.878A>T:p.Gln293Leu	coding	Pathogenic
6	145627563	A	G	A145627563G	EPM2A	NM_005670.4(EPM2A):c.849T>C:p.Tyr283=	coding	Benign/Likely_benign
6	145627577	C	A	C145627577A	EPM2A	NM_005670.4(EPM2A):c.835G>T:p.Gly279Cys	coding	Pathogenic
6	145627577	C	T	C145627577T	EPM2A	NM_005670.4(EPM2A):c.835G>A:p.Gly279Ser	coding	Pathogenic/Likely_pathogenic
6	145627650	C	T	C145627650T	EPM2A	NM_005670.4(EPM2A):c.762G>A:p.Ala254=	coding	Benign/Likely_benign
6	145627691	G	A	G145627691A	EPM2A	NM_005670.4(EPM2A):c.721C>T:p.Arg241Ter	coding	Pathogenic
6	145627697	C	T	C145627697T	EPM2A	NM_005670.4(EPM2A):c.719-4G>A	noncoding	Benign/Likely_benign
6	145635226	G	C	G145635226C	EPM2A	NM_005670.4(EPM2A):c.718+19C>G	noncoding	Benign
6	145635468	C	T	C145635468T	EPM2A	NM_005670.4(EPM2A):c.495G>A:p.Trp165Ter	coding	Pathogenic/Likely_pathogenic
6	145686030	G	A	G145686030A	EPM2A	NM_005670.4(EPM2A):c.476+92C>T	noncoding	Benign
6	145686196	C	T	C145686196T	EPM2A	NM_005670.4(EPM2A):c.402G>A:p.Gly134=	coding	Benign
6	145686205	C	T	C145686205T	EPM2A	NM_005670.4(EPM2A):c.393G>A:p.Glu131=	coding	Benign/Likely_benign
6	145686276	G	A	G145686276A	EPM2A	NM_005670.4(EPM2A):c.322C>T:p.Arg108Cys	coding	Pathogenic
6	145686284	T	C	T145686284C	EPM2A	NM_005670.4(EPM2A):c.314A>G:p.His105Arg	coding	Pathogenic
6	145735328	C	A	C145735328A	EPM2A	NM_005670.4(EPM2A):c.171G>T:p.Pro57=	coding	Benign/Likely_benign
6	145735333	C	A	C145735333A	EPM2A	NM_005670.4(EPM2A):c.166G>T:p.Glu56Ter	coding	Pathogenic
6	145735336	G	A	G145735336A	EPM2A	NM_005670.4(EPM2A):c.163C>T:p.Gln55Ter	coding	Pathogenic
6	145735340	G	C	G145735340C	EPM2A	NM_005670.4(EPM2A):c.159C>G:p.Ala53=	coding	Benign
6	145735363	C	G	C145735363G	EPM2A	NM_005670.4(EPM2A):c.136G>C:p.Ala46Pro	coding	Benign
6	145735425	G	T	G145735425T	EPM2A	NM_005670.4(EPM2A):c.74C>A:p.Ser25Ter	coding	Pathogenic
6	145735513	G	T	G145735513T	EPM2A	NM_005670.4(EPM2A):c.-15C>A	noncoding	Benign
6	145735665	G	A	G145735665A	EPM2A	NM_001360064.2(EPM2A):c.-114+243C>T	noncoding	Benign
6	145735712	T	C	T145735712C	EPM2A	NM_001360064.2(EPM2A):c.-114+196A>G	noncoding	Benign
6	145736153	C	T	C145736153T	EPM2A	NC_000006.12:g.145736153C>T	noncoding	Benign
6	145919501	T	C	T145919501C	SHPRH	NM_001042683.3(SHPRH):c.4009-10A>G	noncoding	Benign
6	145954847	T	G	T145954847G	SHPRH	NM_001042683.3(SHPRH):c.476A>C:p.Asp159Ala	coding	Benign
6	146029781	G	A	G146029781A	GRM1	NM_001278064.2(GRM1):c.264G>A:p.Lys88=	coding	Benign
6	146029838	C	T	C146029838T	GRM1	NM_001278064.2(GRM1):c.321C>T:p.Asp107=	coding	Benign
6	146029925	G	A	G146029925A	GRM1	NM_001278064.2(GRM1):c.408G>A:p.Gly136=	coding	Benign
6	146029961	C	G	C146029961G	GRM1	NM_001278064.2(GRM1):c.444C>G:p.Pro148=	coding	Benign/Likely_benign
6	146030141	C	T	C146030141T	GRM1	NM_001278064.2(GRM1):c.624C>T:p.Asp208=	coding	Benign
6	146159421	T	G	T146159421G	GRM1	NM_001278064.2(GRM1):c.774T>G:p.Ser258=	coding	Benign
6	146159432	A	G	A146159432G	GRM1	NM_001278064.2(GRM1):c.785A>G:p.Tyr262Cys	coding	Pathogenic
6	146159460	C	T	C146159460T	GRM1	NM_001278064.2(GRM1):c.813C>T:p.Asp271=	coding	Benign
6	146159536	C	T	C146159536T	GRM1	NM_001278064.2(GRM1):c.889C>T:p.Arg297Ter	coding	Pathogenic
6	146159569	G	A	G146159569A	GRM1	NM_001278064.2(GRM1):c.922G>A:p.Val308Ile	coding	Benign/Likely_benign
6	146304856	G	A	G146304856A	GRM1	NM_001278064.2(GRM1):c.1186+10G>A	noncoding	Benign
6	146352401	C	T	C146352401T	GRM1	NM_001278064.2(GRM1):c.1338C>T:p.Asp446=	coding	Benign
6	146352423	C	T	C146352423T	GRM1	NM_001278064.2(GRM1):c.1360C>T:p.Leu454Phe	coding	Pathogenic
6	146399019	G	A	G146399019A	GRM1	NM_001278064.2(GRM1):c.1980G>A:p.Gln660=	coding	Benign
6	146399046	G	T	G146399046T	GRM1	NM_001278064.2(GRM1):c.2007G>T:p.Ala669=	coding	Benign
6	146399082	T	C	T146399082C	GRM1	NM_001278064.2(GRM1):c.2043T>C:p.Arg681=	coding	Benign
6	146399403	G	C	G146399403C	GRM1	NM_001278064.2(GRM1):c.2364G>C:p.Ala788=	coding	Benign
6	146399414	A	G	A146399414G	GRM1	NM_001278064.2(GRM1):c.2375A>G:p.Tyr792Cys	coding	Pathogenic
6	146399535	T	C	T146399535C	GRM1	NM_001278064.2(GRM1):c.2496T>C:p.Thr832=	coding	Benign
6	146434004	G	A	G146434004A	GRM1	NM_001278064.2(GRM1):c.2793G>A:p.Lys931=	coding	Benign
6	146434070	C	T	C146434070T	GRM1	NM_001278064.2(GRM1):c.2859C>T:p.Thr953=	coding	Benign/Likely_benign
6	146434133	T	C	T146434133C	GRM1	NM_001278064.2(GRM1):c.2922T>C:p.Pro974=	coding	Benign/Likely_benign
6	146434188	T	C	T146434188C	GRM1	NM_001278064.2(GRM1):c.2977T>C:p.Ser993Pro	coding	Benign
6	146434202	A	G	A146434202G	GRM1	NM_001278064.2(GRM1):c.2991A>G:p.Ala997=	coding	Benign
6	146434318	G	T	G146434318T	GRM1	NM_001278064.2(GRM1):c.3107G>T:p.Gly1036Val	coding	Benign
6	146434379	T	G	T146434379G	GRM1	NM_001278064.2(GRM1):c.3168T>G:p.Gly1056=	coding	Benign
6	146434417	C	T	C146434417T	GRM1	NM_001278064.2(GRM1):c.3206C>T:p.Pro1069Leu	coding	Benign/Likely_benign
6	146434424	T	C	T146434424C	GRM1	NM_001278064.2(GRM1):c.3213T>C:p.Pro1071=	coding	Benign
6	146434424	T	G	T146434424G	GRM1	NM_001278064.2(GRM1):c.3213T>G:p.Pro1071=	coding	Benign/Likely_benign
6	146434425	C	G	C146434425G	GRM1	NM_001278064.2(GRM1):c.3214C>G:p.Pro1072Ala	coding	Benign/Likely_benign
6	146434430	G	A	G146434430A	GRM1	NM_001278064.2(GRM1):c.3219G>A:p.Gln1073=	coding	Benign
6	146434568	G	C	G146434568C	GRM1	NM_001278064.2(GRM1):c.3357G>C:p.Thr1119=	coding	Benign
6	146434592	G	A	G146434592A	GRM1	NM_001278064.2(GRM1):c.3381G>A:p.Glu1127=	coding	Benign
6	146434706	C	A	C146434706A	GRM1	NM_001278064.2(GRM1):c.3495C>A:p.Pro1165=	coding	Benign
6	147315617	A	G	A147315617G	STXBP5	NM_001127715.2(STXBP5):c.1505A>G:p.Tyr502Cys	coding	Benign
6	147327209	A	G	A147327209G	STXBP5	NM_001127715.2(STXBP5):c.2013A>G:p.Leu671=	coding	Benign
6	147353314	A	G	A147353314G	STXBP5	NM_001127715.2(STXBP5):c.2255-9A>G	noncoding	Benign
6	147353330	G	A	G147353330A	STXBP5	NM_001127715.2(STXBP5):c.2262G>A:p.Met754Ile	coding	Benign
6	147359191	C	A	C147359191A	STXBP5	NM_001127715.2(STXBP5):c.2413C>A:p.Arg805=	coding	Benign
6	147363405	A	G	A147363405G	STXBP5	NM_001127715.2(STXBP5):c.2616A>G:p.Pro872=	coding	Benign
6	148440226	C	G	C148440226G	SASH1	NM_015278.5(SASH1):c.328C>G:p.Gln110Glu	coding	Benign
6	148533885	G	A	G148533885A	SASH1	NM_015278.5(SASH1):c.1849G>A:p.Glu617Lys	coding	Pathogenic/Likely_pathogenic
6	148533947	T	C	T148533947C	SASH1	NM_015278.5(SASH1):c.1911T>C:p.Ser637=	coding	Benign
6	148544554	C	A	C148544554A	SASH1	NM_015278.5(SASH1):c.3084C>A:p.Ser1028Arg	coding	Benign
6	148544736	G	A	G148544736A	SASH1	NM_015278.5(SASH1):c.3266G>A:p.Arg1089Gln	coding	Benign
6	148544797	G	A	G148544797A	SASH1	NM_015278.5(SASH1):c.3327G>A:p.Thr1109=	coding	Benign
6	148546086	C	T	C148546086T	SASH1	NM_015278.5(SASH1):c.3420C>T:p.Asp1140=	coding	Benign
6	148548500	G	T	G148548500T	SASH1	NM_015278.5(SASH1):c.3686G>T:p.Arg1229Ile	coding	Benign
6	149074008	C	T	C149074008T	UST	NM_005715.3(UST):c.1113C>T:p.Pro371=	coding	Benign
6	149378166	C	A	C149378166A	TAB2	NM_001292034.3(TAB2):c.251C>A:p.Ser84Ter	coding	Pathogenic
6	149378537	C	T	C149378537T	TAB2	NM_001292034.3(TAB2):c.622C>T:p.Pro208Ser	coding	Pathogenic
6	149378594	C	T	C149378594T	TAB2	NM_001292034.3(TAB2):c.679C>T:p.Arg227Ter	coding	Pathogenic/Likely_pathogenic
6	149378603	C	A	C149378603A	TAB2	NM_001292034.3(TAB2):c.688C>A:p.Gln230Lys	coding	Pathogenic
6	149379043	G	A	G149379043A	TAB2	NM_001292034.3(TAB2):c.1128G>A:p.Thr376=	coding	Benign
6	149379236	C	T	C149379236T	TAB2	NM_001292034.3(TAB2):c.1321C>T:p.Arg441Ter	coding	Pathogenic
6	149379406	T	A	T149379406A	TAB2	NM_001292034.3(TAB2):c.1491T>A:p.Tyr497Ter	coding	Pathogenic
6	149474335	G	A	G149474335A	ZC3H12D	NM_207360.3(ZC3H12D):c.209C>T:p.Ala70Val	coding	Benign
6	149684479	T	C	T149684479C	LATS1	NM_004690.4(LATS1):c.610A>G:p.Ser204Gly	coding	Benign
6	149731629	C	T	C149731629T	NUP43	NM_198887.3(NUP43):c.897G>A:p.Ser299=	coding	Benign
6	149745990	G	A	G149745990A	NUP43	NM_198887.3(NUP43):c.193C>T:p.His65Tyr	coding	Benign
6	149947338	C	T	C149947338T	ULBP2	NM_025217.4(ULBP2):c.650C>T:p.Ser217Leu	coding	Benign
6	149947397	A	C	A149947397C	ULBP2	NM_025217.4(ULBP2):c.709A>C:p.Ile237Leu	coding	Benign
6	150021167	T	G	T150021167G	RAET1L	NM_130900.3(RAET1L):c.369A>C:p.Ala123=	coding	Benign
6	150021174	A	G	A150021174G	RAET1L	NM_130900.3(RAET1L):c.362T>C:p.Leu121Pro	coding	Benign
6	150369121	G	A	G150369121A	IYD	NM_203395.3(IYD):c.90G>A:p.Lys30=	coding	Benign
6	150389354	G	A	G150389354A	IYD	NM_203395.3(IYD):c.181G>A:p.Ala61Thr	coding	Benign
6	150389474	C	T	C150389474T	IYD	NM_203395.3(IYD):c.301C>T:p.Arg101Trp	coding	Pathogenic
6	150389496	A	G	A150389496G	IYD	NM_203395.3(IYD):c.323A>G:p.Asn108Ser	coding	Benign
6	150389520	T	C	T150389520C	IYD	NM_203395.3(IYD):c.347T>C:p.Ile116Thr	coding	Pathogenic
6	150394226	G	A	G150394226A	IYD	NM_203395.3(IYD):c.658G>A:p.Ala220Thr	coding	Pathogenic
6	150395560	T	C	T150395560C	IYD	NM_203395.3(IYD):c.687+1305T>C	coding	Benign
6	150398104	G	A	G150398104A	IYD	NM_203395.3(IYD):c.737G>A:p.Arg246Gln	coding	Benign
6	150944548	C	T	C150944548T	MTHFD1L	NM_015440.4(MTHFD1L):c.1503C>T:p.Ala501=	coding	Benign
6	151348922	G	A	G151348922A	AKAP12	NM_005100.4(AKAP12):c.531G>A:p.Lys177=	coding	Benign
6	151348982	G	A	G151348982A	AKAP12	NM_005100.4(AKAP12):c.591G>A:p.Gln197=	coding	Benign
6	151349152	C	T	C151349152T	AKAP12	NM_005100.4(AKAP12):c.761C>T:p.Pro254Leu	coding	Benign
6	151349203	A	G	A151349203G	AKAP12	NM_005100.4(AKAP12):c.812A>G:p.Glu271Gly	coding	Benign
6	151349521	T	C	T151349521C	AKAP12	NM_005100.4(AKAP12):c.1130T>C:p.Val377Ala	coding	Benign
6	151350785	C	T	C151350785T	AKAP12	NM_005100.4(AKAP12):c.2394C>T:p.Pro798=	coding	Benign
6	151351637	A	G	A151351637G	AKAP12	NM_005100.4(AKAP12):c.3246A>G:p.Glu1082=	coding	Benign
6	151352044	A	T	A151352044T	AKAP12	NM_005100.4(AKAP12):c.3653A>T:p.Lys1218Ile	coding	Benign
6	151352546	G	A	G151352546A	AKAP12	NM_005100.4(AKAP12):c.4155G>A:p.Gly1385=	coding	Benign
6	151352736	G	A	G151352736A	AKAP12	NM_005100.4(AKAP12):c.4345G>A:p.Ala1449Thr	coding	Benign
6	151353158	C	T	C151353158T	AKAP12	NM_005100.4(AKAP12):c.4767C>T:p.Asp1589=	coding	Benign
6	151405236	C	G	C151405236G	RMND1	NM_017909.4(RMND1):c.1349G>C:p.Ter450Ser	coding	Pathogenic
6	151405236	C	T	C151405236T	RMND1	NM_017909.4(RMND1):c.1349G>A:p.Ter450=	coding	Benign
6	151405719	C	A	C151405719A	RMND1	NM_017909.4(RMND1):c.1317+1G>T	noncoding	Pathogenic
6	151405734	G	A	G151405734A	RMND1	NM_017909.4(RMND1):c.1303C>T:p.Leu435Phe	coding	Pathogenic
6	151405787	C	T	C151405787T	RMND1	NM_017909.4(RMND1):c.1250G>A:p.Arg417Gln	coding	Pathogenic
6	151416996	A	G	A151416996G	RMND1	NM_017909.4(RMND1):c.1200+283T>C	noncoding	Benign
6	151417241	C	T	C151417241T	RMND1	NM_017909.4(RMND1):c.1200+38G>A	noncoding	Benign
6	151417312	C	T	C151417312T	RMND1	NM_017909.4(RMND1):c.1167G>A:p.Thr389=	coding	Benign
6	151417431	A	G	A151417431G	RMND1	NM_017909.4(RMND1):c.1080-32T>C	noncoding	Benign
6	151421407	G	A	G151421407A	RMND1	NM_017909.4(RMND1):c.1003-86C>T	noncoding	Benign
6	151423604	T	A	T151423604A	RMND1	NM_017909.4(RMND1):c.858A>T:p.Glu286Asp	coding	Benign
6	151427481	C	T	C151427481T	RMND1	NM_017909.4(RMND1):c.830+1G>A	noncoding	Pathogenic
6	151427529	G	A	G151427529A	RMND1	NM_017909.4(RMND1):c.783C>T:p.Ile261=	coding	Benign
6	151427860	T	C	T151427860C	RMND1	NM_017909.4(RMND1):c.730-278A>G	noncoding	Benign
6	151429825	C	T	C151429825T	RMND1	NM_017909.4(RMND1):c.729+313G>A	noncoding	Benign
6	151433138	T	C	T151433138C	RMND1	NM_017909.4(RMND1):c.689+17A>G	noncoding	Benign
6	151433213	C	T	C151433213T	RMND1	NM_017909.4(RMND1):c.631G>A:p.Val211Met	coding	Pathogenic
6	151433292	C	T	C151433292T	RMND1	NM_017909.4(RMND1):c.614-62G>A	noncoding	Benign
6	151436192	T	C	T151436192C	RMND1	NM_017909.4(RMND1):c.613+254A>G	noncoding	Benign
6	151436446	C	A	C151436446A	RMND1	NM_017909.4(RMND1):c.613G>T:p.Asp205Tyr	coding	Pathogenic
6	151436494	G	A	G151436494A	RMND1	NM_017909.4(RMND1):c.565C>T:p.Gln189Ter	coding	Pathogenic
6	151436526	G	T	G151436526T	RMND1	NM_017909.4(RMND1):c.533C>A:p.Thr178Lys	coding	Pathogenic
6	151445027	T	C	T151445027C	RMND1	NM_017909.4(RMND1):c.504+281A>G	noncoding	Benign
6	151445064	A	G	A151445064G	RMND1	NM_017909.4(RMND1):c.504+244T>C	noncoding	Benign
6	151445262	G	A	G151445262A	RMND1	NM_017909.4(RMND1):c.504+46C>T	noncoding	Benign
6	151445307	C	T	C151445307T	RMND1	NM_017909.4(RMND1):c.504+1G>A	noncoding	Pathogenic
6	151445365	T	C	T151445365C	RMND1	NM_017909.4(RMND1):c.447A>G:p.Lys149=	coding	Benign
6	151445417	G	A	G151445417A	RMND1	NM_017909.4(RMND1):c.395C>T:p.Thr132Met	coding	Benign
6	151445672	C	T	C151445672T	RMND1	NM_017909.4(RMND1):c.140G>A:p.Arg47His	coding	Benign
6	151445687	C	A	C151445687A	RMND1	NM_017909.4(RMND1):c.125G>T:p.Ser42Ile	coding	Benign
6	151452029	G	A	G151452029A	RMND1	NM_017909.4(RMND1):c.-28C>T	noncoding	Benign
6	151585974	G	A	G151585974A	CCDC170	NM_025059.4(CCDC170):c.1178G>A:p.Arg393Lys	coding	Benign
6	151593250	C	A	C151593250A	CCDC170	NM_025059.4(CCDC170):c.1437C>A:p.Asn479Lys	coding	Benign
6	151615576	C	A	C151615576A	CCDC170	NM_025059.4(CCDC170):c.1844C>A:p.Ala615Asp	coding	Benign
6	151808086	C	T	C151808086T	ESR1	NM_000125.3(ESR1):c.174C>T:p.Ala58=	coding	Benign
6	151808141	G	A	G151808141A	ESR1	NM_000125.3(ESR1):c.229G>A:p.Gly77Ser	coding	Benign
6	151808264	T	C	T151808264C	ESR1	NM_000125.3(ESR1):c.352T>C:p.Ser118Pro	coding	Benign
6	151808321	A	G	A151808321G	ESR1	NM_000125.3(ESR1):c.409A>G:p.Ser137Gly	coding	Benign
6	151842613	C	T	C151842613T	ESR1	NM_001328100.2(ESR1):c.-51C>T	coding	Pathogenic
6	151944345	G	A	G151944345A	ESR1	NM_000125.3(ESR1):c.933G>A:p.Thr311=	coding	Benign
6	152011684	G	T	G152011684T	ESR1	NM_000125.3(ESR1):c.1125G>T:p.Gln375His	coding	Pathogenic
6	152011690	C	T	C152011690T	ESR1	NM_000125.3(ESR1):c.1131C>T:p.His377=	coding	Benign
6	152011696	A	C	A152011696C	ESR1	NM_000125.3(ESR1):c.1137A>C:p.Leu379=	coding	Benign
6	152011740	G	A	G152011740A	ESR1	NM_000125.3(ESR1):c.1181G>A:p.Arg394His	coding	Pathogenic/Likely_pathogenic
6	152094402	T	C	T152094402C	ESR1	NM_001328100.2(ESR1):c.851-30864T>C	coding	Pathogenic
6	152098779	T	A	T152098779A	ESR1	NM_001328100.2(ESR1):c.851-26487T>A	coding	Pathogenic
6	152098782	C	A	C152098782A	ESR1	NM_001328100.2(ESR1):c.851-26484C>A	coding	Pathogenic
6	152098785	T	G	T152098785G	ESR1	NM_001328100.2(ESR1):c.851-26481T>G	coding	Pathogenic
6	152098852	A	G	A152098852G	ESR1	NM_000125.3(ESR1):c.1674A>G:p.Ala558=	coding	Benign
6	152121686	C	A	C152121686A	SYNE1	NM_033071.3(SYNE1):c.*750G>T	noncoding	Benign
6	152121853	T	C	T152121853C	SYNE1	NM_182961.4(SYNE1):c.*583A>G	noncoding	Benign
6	152122254	C	T	C152122254T	SYNE1	NM_182961.4(SYNE1):c.*182G>A	noncoding	Benign
6	152122333	G	T	G152122333T	SYNE1	NM_182961.4(SYNE1):c.*103C>A	noncoding	Benign
6	152122341	G	A	G152122341A	SYNE1	NM_182961.4(SYNE1):c.*95C>T	noncoding	Benign/Likely_benign
6	152122532	T	C	T152122532C	SYNE1	NM_182961.4(SYNE1):c.26298A>G:p.Pro8766=	coding	Benign/Likely_benign
6	152122594	G	A	G152122594A	SYNE1	NM_182961.4(SYNE1):c.26236C>T:p.Arg8746Ter	coding	Pathogenic
6	152122609	G	T	G152122609T	SYNE1	NM_182961.4(SYNE1):c.26221C>A:p.Leu8741Met	coding	Benign
6	152122621	C	T	C152122621T	SYNE1	NM_182961.4(SYNE1):c.26209G>A:p.Gly8737Ser	coding	Benign
6	152122626	C	T	C152122626T	SYNE1	NM_182961.4(SYNE1):c.26204G>A:p.Arg8735Gln	coding	Benign
6	152131959	G	A	G152131959A	SYNE1	NM_182961.4(SYNE1):c.26094+163C>T	noncoding	Benign
6	152132156	G	A	G152132156A	SYNE1	NM_182961.4(SYNE1):c.26060C>T:p.Thr8687Ile	coding	Benign
6	152132218	T	C	T152132218C	SYNE1	NM_182961.4(SYNE1):c.26002-4A>G	noncoding	Benign/Likely_benign
6	152132424	G	C	G152132424C	SYNE1	NM_182961.4(SYNE1):c.26002-210C>G	noncoding	Benign
6	152132427	G	A	G152132427A	SYNE1	NM_182961.4(SYNE1):c.26002-213C>T	noncoding	Benign
6	152133604	C	T	C152133604T	SYNE1	NM_182961.4(SYNE1):c.25789-116G>A	noncoding	Benign
6	152133654	T	A	T152133654A	SYNE1	NM_182961.4(SYNE1):c.25789-166A>T	noncoding	Benign
6	152135340	A	G	A152135340G	SYNE1	NM_182961.4(SYNE1):c.25660-108T>C	noncoding	Benign
6	152136939	G	A	G152136939A	SYNE1	NM_182961.4(SYNE1):c.25459-121C>T	noncoding	Benign
6	152139926	G	A	G152139926A	SYNE1	NM_182961.4(SYNE1):c.25458+24C>T	noncoding	Benign
6	152141185	T	G	T152141185G	SYNE1	NM_182961.4(SYNE1):c.25246+18A>C	noncoding	Benign
6	152141303	G	A	G152141303A	SYNE1	NM_182961.4(SYNE1):c.25146C>T:p.Ser8382=	coding	Benign
6	152141345	C	A	C152141345A	SYNE1	NM_182961.4(SYNE1):c.25120-16G>T	noncoding	Benign
6	152141389	C	T	C152141389T	SYNE1	NM_182961.4(SYNE1):c.25120-60G>A	noncoding	Benign
6	152143704	A	G	A152143704G	SYNE1	NM_182961.4(SYNE1):c.25038T>C:p.Arg8346=	coding	Benign
6	152143733	G	A	G152143733A	SYNE1	NM_182961.4(SYNE1):c.25009C>T:p.Gln8337Ter	coding	Pathogenic
6	152145287	C	T	C152145287T	SYNE1	NM_182961.4(SYNE1):c.24977-1522G>A	noncoding	Benign
6	152145300	A	G	A152145300G	SYNE1	NM_182961.4(SYNE1):c.24977-1535T>C	noncoding	Benign
6	152145447	A	G	A152145447G	SYNE1	NM_182961.4(SYNE1):c.24977-1682T>C	noncoding	Benign
6	152145539	T	C	T152145539C	SYNE1	NM_182961.4(SYNE1):c.24977-1774A>G	coding	Benign
6	152145751	A	G	A152145751G	SYNE1	NM_182961.4(SYNE1):c.24977-1986T>C	noncoding	Benign
6	152148053	C	G	C152148053G	SYNE1	NM_182961.4(SYNE1):c.24968G>C:p.Gly8323Ala	coding	Benign
6	152148196	C	T	C152148196T	SYNE1	NM_182961.4(SYNE1):c.24825G>A:p.Pro8275=	coding	Benign
6	152149542	G	A	G152149542A	SYNE1	NM_182961.4(SYNE1):c.24577C>T:p.Arg8193Ter	coding	Pathogenic
6	152149617	C	A	C152149617A	SYNE1	NM_182961.4(SYNE1):c.24502G>T:p.Ala8168Ser	coding	Benign/Likely_benign
6	152149638	T	G	T152149638G	SYNE1	NM_182961.4(SYNE1):c.24481A>C:p.Asn8161His	coding	Benign/Likely_benign
6	152151525	T	A	T152151525A	SYNE1	NM_182961.4(SYNE1):c.24450+28A>T	noncoding	Benign
6	152151692	T	C	T152151692C	SYNE1	NM_182961.4(SYNE1):c.24313-2A>G	noncoding	Pathogenic
6	152151974	G	A	G152151974A	SYNE1	NM_182961.4(SYNE1):c.24297C>T:p.Ile8099=	coding	Benign
6	152151987	C	T	C152151987T	SYNE1	NM_182961.4(SYNE1):c.24284G>A:p.Arg8095His	coding	Pathogenic
6	152152046	T	C	T152152046C	SYNE1	NM_182961.4(SYNE1):c.24225A>G:p.Ala8075=	coding	Benign
6	152152050	G	C	G152152050C	SYNE1	NM_182961.4(SYNE1):c.24221C>G:p.Ser8074Ter	coding	Pathogenic
6	152154894	C	A	C152154894A	SYNE1	NM_182961.4(SYNE1):c.24127G>T:p.Glu8043Ter	coding	Pathogenic
6	152155044	T	C	T152155044C	SYNE1	NM_182961.4(SYNE1):c.23979-2A>G	noncoding	Pathogenic
6	152155817	G	C	G152155817C	SYNE1	NM_182961.4(SYNE1):c.23978+93C>G	noncoding	Benign
6	152164210	C	T	C152164210T	SYNE1	NM_182961.4(SYNE1):c.23743G>A:p.Asp7915Asn	coding	Benign
6	152164240	C	T	C152164240T	SYNE1	NM_182961.4(SYNE1):c.23713G>A:p.Glu7905Lys	coding	Benign/Likely_benign
6	152176365	C	T	C152176365T	SYNE1	NM_182961.4(SYNE1):c.23627+29G>A	noncoding	Benign
6	152176497	G	A	G152176497A	SYNE1	NM_182961.4(SYNE1):c.23524C>T:p.Arg7842Ter	coding	Pathogenic
6	152176561	C	T	C152176561T	SYNE1	NM_182961.4(SYNE1):c.23461-1G>A	coding	Pathogenic
6	152176566	T	G	T152176566G	SYNE1	NM_182961.4(SYNE1):c.23461-6A>C	noncoding	Benign/Likely_benign
6	152176647	C	T	C152176647T	SYNE1	NM_182961.4(SYNE1):c.23461-87G>A	noncoding	Benign
6	152176680	A	G	A152176680G	SYNE1	NM_182961.4(SYNE1):c.23461-120T>C	noncoding	Benign
6	152180421	C	T	C152180421T	SYNE1	NM_182961.4(SYNE1):c.23302-127G>A	noncoding	Benign
6	152189438	G	A	G152189438A	SYNE1	NM_182961.4(SYNE1):c.23146-31C>T	noncoding	Benign
6	152201677	T	G	T152201677G	SYNE1	NM_182961.4(SYNE1):c.23145+147A>C	noncoding	Benign
6	152201791	G	A	G152201791A	SYNE1	NM_182961.4(SYNE1):c.23145+33C>T	noncoding	Benign
6	152201838	G	A	G152201838A	SYNE1	NM_182961.4(SYNE1):c.23131C>T:p.Gln7711Ter	coding	Pathogenic
6	152201950	C	T	C152201950T	SYNE1	NM_182961.4(SYNE1):c.23020-1G>A	coding	Pathogenic
6	152202008	G	A	G152202008A	SYNE1	NM_182961.4(SYNE1):c.23020-59C>T	noncoding	Benign
6	152202073	G	A	G152202073A	SYNE1	NM_182961.4(SYNE1):c.23020-124C>T	noncoding	Benign
6	152206185	G	C	G152206185C	SYNE1	NM_182961.4(SYNE1):c.23002C>G:p.Leu7668Val	coding	Benign/Likely_benign
6	152206257	G	A	G152206257A	SYNE1	NM_182961.4(SYNE1):c.22930C>T:p.Gln7644Ter	coding	Pathogenic
6	152207987	G	A	G152207987A	SYNE1	NM_182961.4(SYNE1):c.22809C>T:p.Leu7603=	coding	Benign
6	152208125	G	A	G152208125A	SYNE1	NM_182961.4(SYNE1):c.22671C>T:p.Ile7557=	coding	Benign
6	152211235	T	C	T152211235C	SYNE1	NM_182961.4(SYNE1):c.22589+259A>G	noncoding	Benign
6	152211567	T	C	T152211567C	SYNE1	NM_182961.4(SYNE1):c.22516A>G:p.Ser7506Gly	coding	Benign
6	152213633	C	T	C152213633T	SYNE1	NM_182961.4(SYNE1):c.22473G>A:p.Leu7491=	coding	Benign
6	152213654	T	C	T152213654C	SYNE1	NM_182961.4(SYNE1):c.22452A>G:p.Ser7484=	coding	Benign/Likely_benign
6	152213698	C	A	C152213698A	SYNE1	NM_182961.4(SYNE1):c.22408G>T:p.Glu7470Ter	coding	Pathogenic
6	152213737	G	A	G152213737A	SYNE1	NM_182961.4(SYNE1):c.22369C>T:p.Gln7457Ter	coding	Pathogenic
6	152213811	T	A	T152213811A	SYNE1	NM_182961.4(SYNE1):c.22347-52A>T	noncoding	Benign
6	152213812	T	A	T152213812A	SYNE1	NM_182961.4(SYNE1):c.22347-53A>T	noncoding	Benign
6	152213843	T	C	T152213843C	SYNE1	NM_182961.4(SYNE1):c.22347-84A>G	noncoding	Benign
6	152214971	G	T	G152214971T	SYNE1	NM_182961.4(SYNE1):c.22281C>A:p.Ile7427=	coding	Benign
6	152215239	T	A	T152215239A	SYNE1	NM_182961.4(SYNE1):c.22192-179A>T	noncoding	Benign
6	152218215	C	G	C152218215G	SYNE1	NM_182961.4(SYNE1):c.22191+42G>C	noncoding	Benign
6	152218311	G	A	G152218311A	SYNE1	NM_182961.4(SYNE1):c.22137C>T:p.Asp7379=	coding	Benign/Likely_benign
6	152218722	T	C	T152218722C	SYNE1	NM_182961.4(SYNE1):c.22044+281A>G	noncoding	Benign
6	152219113	G	A	G152219113A	SYNE1	NM_182961.4(SYNE1):c.21934C>T:p.Gln7312Ter	coding	Pathogenic
6	152219143	A	C	A152219143C	SYNE1	NM_182961.4(SYNE1):c.21904T>G:p.Phe7302Val	coding	Benign/Likely_benign
6	152219165	G	T	G152219165T	SYNE1	NM_182961.4(SYNE1):c.21882C>A:p.Gly7294=	coding	Benign/Likely_benign
6	152219222	T	C	T152219222C	SYNE1	NM_182961.4(SYNE1):c.21862-37A>G	noncoding	Benign
6	152219333	A	T	A152219333T	SYNE1	NM_182961.4(SYNE1):c.21862-148T>A	noncoding	Benign
6	152220962	G	T	G152220962T	SYNE1	NM_182961.4(SYNE1):c.21741C>A:p.Tyr7247Ter	coding	Pathogenic
6	152220971	G	T	G152220971T	SYNE1	NM_182961.4(SYNE1):c.21732C>A:p.Tyr7244Ter	coding	Pathogenic
6	152221099	G	T	G152221099T	SYNE1	NM_182961.4(SYNE1):c.21657-53C>A	noncoding	Benign
6	152221413	A	G	A152221413G	SYNE1	NM_182961.4(SYNE1):c.21656+13T>C	noncoding	Benign
6	152221567	A	C	A152221567C	SYNE1	NM_182961.4(SYNE1):c.21523-8T>G	noncoding	Benign
6	152221733	G	T	G152221733T	SYNE1	NM_182961.4(SYNE1):c.21523-174C>A	noncoding	Benign
6	152221827	T	C	T152221827C	SYNE1	NM_182961.4(SYNE1):c.21523-268A>G	noncoding	Benign
6	152225605	G	A	G152225605A	SYNE1	NM_182961.4(SYNE1):c.21351+116C>T	noncoding	Benign
6	152225742	G	A	G152225742A	SYNE1	NM_182961.4(SYNE1):c.21330C>T:p.Thr7110=	coding	Benign/Likely_benign
6	152226016	T	C	T152226016C	SYNE1	NM_182961.4(SYNE1):c.21196-140A>G	noncoding	Benign
6	152230690	C	A	C152230690A	SYNE1	NM_182961.4(SYNE1):c.21052G>T:p.Glu7018Ter	coding	Pathogenic
6	152231240	G	A	G152231240A	SYNE1	NM_182961.4(SYNE1):c.21039+151C>T	noncoding	Benign
6	152231804	A	G	A152231804G	SYNE1	NM_182961.4(SYNE1):c.20863-237T>C	noncoding	Benign
6	152231806	A	G	A152231806G	SYNE1	NM_182961.4(SYNE1):c.20863-239T>C	noncoding	Benign
6	152232583	A	T	A152232583T	SYNE1	NM_182961.4(SYNE1):c.20713-318T>A	noncoding	Benign
6	152233847	C	T	C152233847T	SYNE1	NM_182961.4(SYNE1):c.20646G>A:p.Ser6882=	coding	Benign/Likely_benign
6	152233922	T	A	T152233922A	SYNE1	NM_182961.4(SYNE1):c.20571A>T:p.Ser6857=	coding	Benign/Likely_benign
6	152233977	C	T	C152233977T	SYNE1	NM_182961.4(SYNE1):c.20530-14G>A	noncoding	Benign
6	152235123	T	C	T152235123C	SYNE1	NM_182961.4(SYNE1):c.20397-323A>G	noncoding	Benign
6	152236211	A	G	A152236211G	SYNE1	NM_182961.4(SYNE1):c.20292T>C:p.Asp6764=	coding	Benign/Likely_benign
6	152236240	G	A	G152236240A	SYNE1	NM_182961.4(SYNE1):c.20263C>T:p.Arg6755Ter	coding	Pathogenic
6	152238254	C	A	C152238254A	SYNE1	NM_182961.4(SYNE1):c.20067+1279G>T	noncoding	Benign
6	152238668	G	A	G152238668A	SYNE1	NM_182961.4(SYNE1):c.20067+865C>T	noncoding	Benign
6	152239343	C	A	C152239343A	SYNE1	NM_182961.4(SYNE1):c.20067+190G>T	noncoding	Benign
6	152239609	G	A	G152239609A	SYNE1	NM_182961.4(SYNE1):c.19991C>T:p.Thr6664Ile	coding	Benign/Likely_benign
6	152239611	A	G	A152239611G	SYNE1	NM_182961.4(SYNE1):c.19989T>C:p.His6663=	coding	Benign/Likely_benign
6	152239701	G	C	G152239701C	SYNE1	NM_182961.4(SYNE1):c.19899C>G:p.Tyr6633Ter	coding	Pathogenic/Likely_pathogenic
6	152239781	G	A	G152239781A	SYNE1	NM_182961.4(SYNE1):c.19894-75C>T	noncoding	Benign
6	152242435	C	A	C152242435A	SYNE1	NM_182961.4(SYNE1):c.19698G>T:p.Met6566Ile	coding	Benign
6	152244239	A	G	A152244239G	SYNE1	NM_182961.4(SYNE1):c.19692+298T>C	noncoding	Benign
6	152244762	T	C	T152244762C	SYNE1	NM_182961.4(SYNE1):c.19573-106A>G	noncoding	Benign
6	152244970	A	G	A152244970G	SYNE1	NM_182961.4(SYNE1):c.19573-314T>C	noncoding	Benign
6	152249139	A	G	A152249139G	SYNE1	NM_182961.4(SYNE1):c.19572+22T>C	noncoding	Benign
6	152249225	T	C	T152249225C	SYNE1	NM_182961.4(SYNE1):c.19508A>G:p.Asn6503Ser	coding	Benign/Likely_benign
6	152249280	G	A	G152249280A	SYNE1	NM_182961.4(SYNE1):c.19471-18C>T	noncoding	Benign
6	152249590	T	C	T152249590C	SYNE1	NM_182961.4(SYNE1):c.19471-328A>G	noncoding	Benign
6	152255456	A	G	A152255456G	SYNE1	NM_182961.4(SYNE1):c.19260+135T>C	noncoding	Benign
6	152255628	A	T	A152255628T	SYNE1	NM_182961.4(SYNE1):c.19223T>A:p.Leu6408Ter	coding	Pathogenic
6	152256617	T	C	T152256617C	SYNE1	NM_182961.4(SYNE1):c.19104+17A>G	noncoding	Benign
6	152261831	A	T	A152261831T	SYNE1	NM_182961.4(SYNE1):c.18972+201T>A	noncoding	Benign
6	152262123	T	A	T152262123A	SYNE1	NM_182961.4(SYNE1):c.18881A>T:p.Gln6294Leu	coding	Benign/Likely_benign
6	152268070	G	A	G152268070A	SYNE1	NM_182961.4(SYNE1):c.18801C>T:p.Thr6267=	coding	Benign
6	152268156	G	A	G152268156A	SYNE1	NM_182961.4(SYNE1):c.18715C>T:p.Gln6239Ter	coding	Pathogenic
6	152269178	G	A	G152269178A	SYNE1	NM_182961.4(SYNE1):c.18682C>T:p.Gln6228Ter	coding	Pathogenic
6	152269482	T	G	T152269482G	SYNE1	NM_182961.4(SYNE1):c.18574-196A>C	noncoding	Benign
6	152277895	C	T	C152277895T	SYNE1	NM_182961.4(SYNE1):c.18573+194G>A	noncoding	Benign
6	152278407	G	A	G152278407A	SYNE1	NM_182961.4(SYNE1):c.18382-127C>T	noncoding	Benign
6	152281591	G	A	G152281591A	SYNE1	NM_182961.4(SYNE1):c.18381+216C>T	noncoding	Benign
6	152282004	T	C	T152282004C	SYNE1	NM_182961.4(SYNE1):c.18208-24A>G	noncoding	Benign
6	152283686	A	G	A152283686G	SYNE1	NM_182961.4(SYNE1):c.18207+292T>C	noncoding	Benign
6	152283709	A	G	A152283709G	SYNE1	NM_182961.4(SYNE1):c.18207+269T>C	noncoding	Benign
6	152284000	G	A	G152284000A	SYNE1	NM_182961.4(SYNE1):c.18185C>T:p.Ser6062Leu	coding	Benign
6	152284032	G	A	G152284032A	SYNE1	NM_182961.4(SYNE1):c.18153C>T:p.Ala6051=	coding	Benign/Likely_benign
6	152284071	C	T	C152284071T	SYNE1	NM_182961.4(SYNE1):c.18114G>A:p.Ala6038=	coding	Benign/Likely_benign
6	152293587	C	A	C152293587A	SYNE1	NM_182961.4(SYNE1):c.18012+1G>T	noncoding	Pathogenic
6	152293695	G	A	G152293695A	SYNE1	NM_182961.4(SYNE1):c.17905C>T:p.Gln5969Ter	coding	Pathogenic
6	152293907	G	T	G152293907T	SYNE1	NM_182961.4(SYNE1):c.17850+53C>A	noncoding	Benign
6	152294065	G	A	G152294065A	SYNE1	NM_182961.4(SYNE1):c.17745C>T:p.His5915=	coding	Benign
6	152300346	C	T	C152300346T	SYNE1	NM_182961.4(SYNE1):c.17682+295G>A	noncoding	Benign
6	152300675	G	T	G152300675T	SYNE1	NM_182961.4(SYNE1):c.17648C>A:p.Ser5883Ter	coding	Pathogenic
6	152300795	T	C	T152300795C	SYNE1	NM_182961.4(SYNE1):c.17542-14A>G	noncoding	Benign/Likely_benign
6	152301741	T	A	T152301741A	SYNE1	NM_182961.4(SYNE1):c.17541+128A>T	noncoding	Benign
6	152301992	C	T	C152301992T	SYNE1	NM_182961.4(SYNE1):c.17418G>A:p.Thr5806=	coding	Benign
6	152308451	G	A	G152308451A	SYNE1	NM_182961.4(SYNE1):c.17346+38C>T	noncoding	Benign
6	152308482	C	T	C152308482T	SYNE1	NM_182961.4(SYNE1):c.17346+7G>A	noncoding	Benign
6	152308496	C	T	C152308496T	SYNE1	NM_182961.4(SYNE1):c.17339G>A:p.Arg5780Gln	coding	Benign
6	152308606	A	C	A152308606C	SYNE1	NM_182961.4(SYNE1):c.17229T>G:p.Tyr5743Ter	coding	Pathogenic
6	152308620	G	A	G152308620A	SYNE1	NM_182961.4(SYNE1):c.17215C>T:p.Gln5739Ter	coding	Pathogenic
6	152308637	G	A	G152308637A	SYNE1	NM_182961.4(SYNE1):c.17203-5C>T	noncoding	Benign
6	152308680	C	T	C152308680T	SYNE1	NM_182961.4(SYNE1):c.17203-48G>A	noncoding	Benign
6	152309811	C	T	C152309811T	SYNE1	NM_182961.4(SYNE1):c.17202+24G>A	noncoding	Benign
6	152310898	G	A	G152310898A	SYNE1	NM_182961.4(SYNE1):c.16711-25C>T	noncoding	Benign
6	152311136	G	A	G152311136A	SYNE1	NM_182961.4(SYNE1):c.16711-263C>T	noncoding	Benign
6	152317074	A	G	A152317074G	SYNE1	NM_182961.4(SYNE1):c.16573-88T>C	noncoding	Benign
6	152317104	T	C	T152317104C	SYNE1	NM_182961.4(SYNE1):c.16573-118A>G	noncoding	Benign
6	152318049	C	G	C152318049G	SYNE1	NM_182961.4(SYNE1):c.16572+32G>C	noncoding	Benign
6	152318177	T	C	T152318177C	SYNE1	NM_182961.4(SYNE1):c.16476A>G:p.Gln5492=	coding	Benign/Likely_benign
6	152318232	G	T	G152318232T	SYNE1	NM_182961.4(SYNE1):c.16421C>A:p.Ser5474Ter	coding	Pathogenic
6	152318265	T	C	T152318265C	SYNE1	NM_182961.4(SYNE1):c.16390-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	152318265	T	G	T152318265G	SYNE1	NM_182961.4(SYNE1):c.16390-2A>C	noncoding	Pathogenic
6	152318975	G	A	G152318975A	SYNE1	NM_182961.4(SYNE1):c.16277C>T:p.Thr5426Met	coding	Benign/Likely_benign
6	152319113	G	T	G152319113T	SYNE1	NM_182961.4(SYNE1):c.16237-98C>A	noncoding	Benign
6	152321345	T	G	T152321345G	SYNE1	NM_182961.4(SYNE1):c.16129A>C:p.Met5377Leu	coding	Benign
6	152321766	T	C	T152321766C	SYNE1	NM_182961.4(SYNE1):c.16038A>G:p.Leu5346=	coding	Benign/Likely_benign
6	152321831	G	A	G152321831A	SYNE1	NM_182961.4(SYNE1):c.15973C>T:p.Arg5325Ter	coding	Pathogenic
6	152321898	T	C	T152321898C	SYNE1	NM_182961.4(SYNE1):c.15918-12A>G	noncoding	Pathogenic
6	152325144	G	C	G152325144C	SYNE1	NM_182961.4(SYNE1):c.15597C>G:p.Ala5199=	coding	Benign
6	152325174	C	T	C152325174T	SYNE1	NM_182961.4(SYNE1):c.15567G>A:p.Trp5189Ter	coding	Pathogenic
6	152325272	C	T	C152325272T	SYNE1	NM_182961.4(SYNE1):c.15469G>A:p.Glu5157Lys	coding	Benign/Likely_benign
6	152325558	T	C	T152325558C	SYNE1	NM_182961.4(SYNE1):c.15439-256A>G	noncoding	Benign
6	152326083	C	T	C152326083T	SYNE1	NM_182961.4(SYNE1):c.15313G>A:p.Asp5105Asn	coding	Benign/Likely_benign
6	152326546	A	T	A152326546T	SYNE1	NM_182961.4(SYNE1):c.15043T>A:p.Leu5015Met	coding	Benign
6	152329768	G	A	G152329768A	SYNE1	NM_182961.4(SYNE1):c.14917C>T:p.Leu4973=	coding	Benign
6	152330041	G	A	G152330041A	SYNE1	NM_182961.4(SYNE1):c.14644C>T:p.Arg4882Ter	coding	Pathogenic
6	152330473	C	A	C152330473A	SYNE1	NM_182961.4(SYNE1):c.14212G>T:p.Glu4738Ter	coding	Pathogenic
6	152330522	G	A	G152330522A	SYNE1	NM_182961.4(SYNE1):c.14163C>T:p.Asp4721=	coding	Benign
6	152330578	C	T	C152330578T	SYNE1	NM_182961.4(SYNE1):c.14107G>A:p.Asp4703Asn	coding	Benign
6	152330594	C	A	C152330594A	SYNE1	NM_182961.4(SYNE1):c.14091G>T:p.Met4697Ile	coding	Benign/Likely_benign
6	152330624	C	G	C152330624G	SYNE1	NM_182961.4(SYNE1):c.14061G>C:p.Leu4687=	coding	Benign
6	152330699	C	T	C152330699T	SYNE1	NM_182961.4(SYNE1):c.13986G>A:p.Lys4662=	coding	Benign
6	152330737	G	A	G152330737A	SYNE1	NM_182961.4(SYNE1):c.13948C>T:p.Arg4650Ter	coding	Pathogenic
6	152330822	C	T	C152330822T	SYNE1	NM_182961.4(SYNE1):c.13863G>A:p.Thr4621=	coding	Benign/Likely_benign
6	152330899	A	T	A152330899T	SYNE1	NM_182961.4(SYNE1):c.13786T>A:p.Ser4596Thr	coding	Benign
6	152331049	C	T	C152331049T	SYNE1	NM_182961.4(SYNE1):c.13636G>A:p.Val4546Ile	coding	Benign/Likely_benign
6	152331464	G	A	G152331464A	SYNE1	NM_182961.4(SYNE1):c.13221C>T:p.Asp4407=	coding	Benign
6	152331902	T	C	T152331902C	SYNE1	NM_182961.4(SYNE1):c.12795-12A>G	noncoding	Benign
6	152334195	C	T	C152334195T	SYNE1	NM_182961.4(SYNE1):c.12607G>A:p.Glu4203Lys	coding	Benign/Likely_benign
6	152334237	C	T	C152334237T	SYNE1	NM_182961.4(SYNE1):c.12565G>A:p.Val4189Met	coding	Benign
6	152336927	C	G	C152336927G	SYNE1	NM_182961.4(SYNE1):c.12442G>C:p.Asp4148His	coding	Benign
6	152336958	G	A	G152336958A	SYNE1	NM_182961.4(SYNE1):c.12411C>T:p.His4137=	coding	Benign/Likely_benign
6	152337006	C	A	C152337006A	SYNE1	NM_182961.4(SYNE1):c.12363G>T:p.Lys4121Asn	coding	Benign
6	152337007	T	C	T152337007C	SYNE1	NM_182961.4(SYNE1):c.12362A>G:p.Lys4121Arg	coding	Benign
6	152337056	T	C	T152337056C	SYNE1	NM_182961.4(SYNE1):c.12352-39A>G	noncoding	Benign
6	152337081	A	G	A152337081G	SYNE1	NM_182961.4(SYNE1):c.12352-64T>C	noncoding	Benign
6	152337208	T	A	T152337208A	SYNE1	NM_182961.4(SYNE1):c.12352-191A>T	noncoding	Benign
6	152339175	A	G	A152339175G	SYNE1	NM_182961.4(SYNE1):c.12351+66T>C	noncoding	Benign
6	152339316	G	A	G152339316A	SYNE1	NM_182961.4(SYNE1):c.12276C>T:p.Leu4092=	coding	Benign/Likely_benign
6	152339345	G	A	G152339345A	SYNE1	NM_182961.4(SYNE1):c.12247C>T:p.Gln4083Ter	coding	Pathogenic
6	152339702	G	T	G152339702T	SYNE1	NM_182961.4(SYNE1):c.12226-336C>A	noncoding	Benign
6	152344126	C	A	C152344126A	SYNE1	NM_182961.4(SYNE1):c.12180G>T:p.Glu4060Asp	coding	Benign
6	152344136	G	A	G152344136A	SYNE1	NM_182961.4(SYNE1):c.12170C>T:p.Pro4057Leu	coding	Benign/Likely_benign
6	152344168	C	T	C152344168T	SYNE1	NM_182961.4(SYNE1):c.12138G>A:p.Gln4046=	coding	Benign
6	152344185	G	A	G152344185A	SYNE1	NM_182961.4(SYNE1):c.12121C>T:p.Arg4041Ter	coding	Pathogenic
6	152344239	C	A	C152344239A	SYNE1	NM_182961.4(SYNE1):c.12079-12G>T	noncoding	Benign
6	152344493	C	T	C152344493T	SYNE1	NM_182961.4(SYNE1):c.12079-266G>A	noncoding	Benign
6	152347076	A	G	A152347076G	SYNE1	NM_182961.4(SYNE1):c.12061T>C:p.Cys4021Arg	coding	Benign/Likely_benign
6	152347080	C	T	C152347080T	SYNE1	NM_182961.4(SYNE1):c.12057G>A:p.Ala4019=	coding	Benign/Likely_benign
6	152347137	C	T	C152347137T	SYNE1	NM_182961.4(SYNE1):c.12000G>A:p.Ala4000=	coding	Benign/Likely_benign
6	152347493	C	G	C152347493G	SYNE1	NM_182961.4(SYNE1):c.11902-258G>C	noncoding	Benign
6	152350040	G	A	G152350040A	SYNE1	NM_182961.4(SYNE1):c.11901+128C>T	noncoding	Benign
6	152350208	C	G	C152350208G	SYNE1	NM_182961.4(SYNE1):c.11861G>C:p.Ser3954Thr	coding	Benign
6	152350340	A	C	A152350340C	SYNE1	NM_182961.4(SYNE1):c.11734-5T>G	noncoding	Benign
6	152350418	A	G	A152350418G	SYNE1	NM_182961.4(SYNE1):c.11734-83T>C	noncoding	Benign
6	152350730	T	G	T152350730G	SYNE1	NM_182961.4(SYNE1):c.11621A>C:p.Lys3874Thr	coding	Benign
6	152350840	A	G	A152350840G	SYNE1	NM_182961.4(SYNE1):c.11581-70T>C	noncoding	Benign
6	152350896	T	C	T152350896C	SYNE1	NM_182961.4(SYNE1):c.11581-126A>G	noncoding	Benign
6	152350938	T	C	T152350938C	SYNE1	NM_182961.4(SYNE1):c.11581-168A>G	noncoding	Benign
6	152351908	G	A	G152351908A	SYNE1	NM_182961.4(SYNE1):c.11580+119C>T	noncoding	Benign
6	152352012	G	A	G152352012A	SYNE1	NM_182961.4(SYNE1):c.11580+15C>T	noncoding	Benign
6	152352066	C	T	C152352066T	SYNE1	NM_182961.4(SYNE1):c.11541G>A:p.Met3847Ile	coding	Benign/Likely_benign
6	152352122	T	C	T152352122C	SYNE1	NM_182961.4(SYNE1):c.11485A>G:p.Thr3829Ala	coding	Benign/Likely_benign
6	152352384	A	C	A152352384C	SYNE1	NM_182961.4(SYNE1):c.11254-31T>G	noncoding	Benign
6	152352954	T	G	T152352954G	SYNE1	NM_182961.4(SYNE1):c.11253+309A>C	noncoding	Benign
6	152352997	T	C	T152352997C	SYNE1	NM_182961.4(SYNE1):c.11253+266A>G	noncoding	Benign
6	152353278	T	C	T152353278C	SYNE1	NM_182961.4(SYNE1):c.11238A>G:p.Lys3746=	coding	Benign/Likely_benign
6	152353320	A	G	A152353320G	SYNE1	NM_182961.4(SYNE1):c.11196T>C:p.Ala3732=	coding	Benign/Likely_benign
6	152353919	T	C	T152353919C	SYNE1	NM_182961.4(SYNE1):c.10927-175A>G	noncoding	Benign
6	152354002	C	T	C152354002T	SYNE1	NM_182961.4(SYNE1):c.10927-258G>A	noncoding	Benign
6	152354719	A	G	A152354719G	SYNE1	NM_182961.4(SYNE1):c.10866T>C:p.Ser3622=	coding	Benign
6	152354758	T	G	T152354758G	SYNE1	NM_182961.4(SYNE1):c.10827A>C:p.Gln3609His	coding	Benign/Likely_benign
6	152354817	G	A	G152354817A	SYNE1	NM_182961.4(SYNE1):c.10768C>T:p.Arg3590Ter	coding	Pathogenic
6	152358383	C	T	C152358383T	SYNE1	NM_182961.4(SYNE1):c.10598G>A:p.Arg3533His	coding	Benign
6	152358424	T	A	T152358424A	SYNE1	NM_182961.4(SYNE1):c.10557A>T:p.Ser3519=	coding	Benign
6	152358459	A	G	A152358459G	SYNE1	NM_182961.4(SYNE1):c.10522T>C:p.Leu3508=	coding	Benign/Likely_benign
6	152358594	G	A	G152358594A	SYNE1	NM_182961.4(SYNE1):c.10444-57C>T	noncoding	Benign
6	152359314	C	A	C152359314A	SYNE1	NM_182961.4(SYNE1):c.10443+1G>T	noncoding	Pathogenic
6	152361973	A	G	A152361973G	SYNE1	NM_182961.4(SYNE1):c.10299+197T>C	noncoding	Benign
6	152362048	G	T	G152362048T	SYNE1	NM_182961.4(SYNE1):c.10299+122C>A	noncoding	Benign
6	152362064	G	A	G152362064A	SYNE1	NM_182961.4(SYNE1):c.10299+106C>T	noncoding	Benign
6	152362188	C	A	C152362188A	SYNE1	NM_182961.4(SYNE1):c.10281G>T:p.Thr3427=	coding	Benign/Likely_benign
6	152362262	C	T	C152362262T	SYNE1	NM_182961.4(SYNE1):c.10207G>A:p.Gly3403Ser	coding	Benign
6	152362278	G	T	G152362278T	SYNE1	NM_182961.4(SYNE1):c.10191C>A:p.Gly3397=	coding	Benign
6	152364829	G	C	G152364829C	SYNE1	NM_182961.4(SYNE1):c.10145+18C>G	noncoding	Benign
6	152364835	A	G	A152364835G	SYNE1	NM_182961.4(SYNE1):c.10145+12T>C	noncoding	Benign/Likely_benign
6	152364846	C	T	C152364846T	SYNE1	NM_182961.4(SYNE1):c.10145+1G>A	noncoding	Pathogenic
6	152364887	T	C	T152364887C	SYNE1	NM_182961.4(SYNE1):c.10105A>G:p.Met3369Val	coding	Benign/Likely_benign
6	152364936	A	G	A152364936G	SYNE1	NM_182961.4(SYNE1):c.10056T>C:p.Ser3352=	coding	Benign/Likely_benign
6	152364955	G	T	G152364955T	SYNE1	NM_182961.4(SYNE1):c.10037C>A:p.Ser3346Tyr	coding	Benign/Likely_benign
6	152364970	A	G	A152364970G	SYNE1	NM_182961.4(SYNE1):c.10022T>C:p.Val3341Ala	coding	Benign/Likely_benign
6	152367199	T	C	T152367199C	SYNE1	NM_182961.4(SYNE1):c.9972+19A>G	noncoding	Benign
6	152367236	G	A	G152367236A	SYNE1	NM_182961.4(SYNE1):c.9954C>T:p.Ser3318=	coding	Benign
6	152367432	C	T	C152367432T	SYNE1	NM_182961.4(SYNE1):c.9808-50G>A	noncoding	Benign
6	152368958	G	C	G152368958C	SYNE1	NM_182961.4(SYNE1):c.9807+14C>G	noncoding	Benign/Likely_benign
6	152369015	G	A	G152369015A	SYNE1	NM_182961.4(SYNE1):c.9764C>T:p.Ser3255Leu	coding	Benign/Likely_benign
6	152369424	G	A	G152369424A	SYNE1	NM_182961.4(SYNE1):c.9651+47C>T	noncoding	Benign
6	152369459	C	T	C152369459T	SYNE1	NM_182961.4(SYNE1):c.9651+12G>A	noncoding	Benign/Likely_benign
6	152369580	C	T	C152369580T	SYNE1	NM_182961.4(SYNE1):c.9542G>A:p.Ser3181Asn	coding	Benign/Likely_benign
6	152373049	T	C	T152373049C	SYNE1	NM_182961.4(SYNE1):c.9495A>G:p.Glu3165=	coding	Benign
6	152373124	C	T	C152373124T	SYNE1	NM_182961.4(SYNE1):c.9420G>A:p.Ala3140=	coding	Benign/Likely_benign
6	152376497	G	A	G152376497A	SYNE1	NM_182961.4(SYNE1):c.9208C>T:p.Arg3070Ter	coding	Pathogenic
6	152376540	G	T	G152376540T	SYNE1	NM_182961.4(SYNE1):c.9165C>A:p.Ser3055=	coding	Benign/Likely_benign
6	152376571	C	T	C152376571T	SYNE1	NM_182961.4(SYNE1):c.9147-13G>A	noncoding	Benign
6	152381125	G	A	G152381125A	SYNE1	NM_182961.4(SYNE1):c.8890C>T:p.Gln2964Ter	coding	Pathogenic
6	152381149	G	A	G152381149A	SYNE1	NM_182961.4(SYNE1):c.8866C>T:p.Gln2956Ter	coding	Pathogenic
6	152381320	T	A	T152381320A	SYNE1	NM_182961.4(SYNE1):c.8695A>T:p.Arg2899Ter	coding	Pathogenic
6	152381686	G	A	G152381686A	SYNE1	NM_182961.4(SYNE1):c.8653-324C>T	coding	Benign
6	152385444	C	T	C152385444T	SYNE1	NM_182961.4(SYNE1):c.8652+230G>A	noncoding	Benign
6	152385928	C	T	C152385928T	SYNE1	NM_182961.4(SYNE1):c.8488-90G>A	noncoding	Benign
6	152386100	A	G	A152386100G	SYNE1	NM_182961.4(SYNE1):c.8488-262T>C	noncoding	Benign
6	152386790	G	T	G152386790T	SYNE1	NM_182961.4(SYNE1):c.8487+282C>A	noncoding	Benign
6	152387159	G	A	G152387159A	SYNE1	NM_182961.4(SYNE1):c.8400C>T:p.Leu2800=	coding	Benign/Likely_benign
6	152387175	G	A	G152387175A	SYNE1	NM_182961.4(SYNE1):c.8384C>T:p.Ala2795Val	coding	Benign
6	152387223	A	C	A152387223C	SYNE1	NM_182961.4(SYNE1):c.8336T>G:p.Ile2779Ser	coding	Benign
6	152387272	G	A	G152387272A	SYNE1	NM_182961.4(SYNE1):c.8287C>T:p.Gln2763Ter	coding	Pathogenic
6	152387321	C	T	C152387321T	SYNE1	NM_182961.4(SYNE1):c.8238G>A:p.Glu2746=	coding	Benign/Likely_benign
6	152387329	G	T	G152387329T	SYNE1	NM_182961.4(SYNE1):c.8230C>A:p.Gln2744Lys	coding	Benign/Likely_benign
6	152387662	G	C	G152387662C	SYNE1	NM_182961.4(SYNE1):c.8178-281C>G	noncoding	Benign
6	152390260	T	A	T152390260A	SYNE1	NM_182961.4(SYNE1):c.8177+20A>T	noncoding	Benign
6	152390271	G	A	G152390271A	SYNE1	NM_182961.4(SYNE1):c.8177+9C>T	noncoding	Benign
6	152390293	C	T	C152390293T	SYNE1	NM_182961.4(SYNE1):c.8164G>A:p.Val2722Ile	coding	Benign/Likely_benign
6	152390294	G	A	G152390294A	SYNE1	NM_182961.4(SYNE1):c.8163C>T:p.Ser2721=	coding	Benign
6	152390998	C	A	C152390998A	SYNE1	NM_182961.4(SYNE1):c.8004+279G>T	noncoding	Benign
6	152391039	G	A	G152391039A	SYNE1	NM_182961.4(SYNE1):c.8004+238C>T	noncoding	Benign
6	152391427	G	A	G152391427A	SYNE1	NM_182961.4(SYNE1):c.7854C>T:p.Ser2618=	coding	Benign
6	152391572	A	G	A152391572G	SYNE1	NM_182961.4(SYNE1):c.7713-4T>C	noncoding	Benign/Likely_benign
6	152391580	G	A	G152391580A	SYNE1	NM_182961.4(SYNE1):c.7713-12C>T	noncoding	Benign
6	152391617	C	T	C152391617T	SYNE1	NM_182961.4(SYNE1):c.7713-49G>A	noncoding	Benign
6	152391770	A	G	A152391770G	SYNE1	NM_182961.4(SYNE1):c.7713-202T>C	noncoding	Benign
6	152395368	T	C	T152395368C	SYNE1	NM_182961.4(SYNE1):c.7712+148A>G	noncoding	Benign
6	152395617	C	A	C152395617A	SYNE1	NM_182961.4(SYNE1):c.7611G>T:p.Arg2537Ser	coding	Benign/Likely_benign
6	152396569	C	G	C152396569G	SYNE1	NM_182961.4(SYNE1):c.7556+206G>C	noncoding	Benign
6	152396761	T	C	T152396761C	SYNE1	NM_182961.4(SYNE1):c.7556+14A>G	noncoding	Benign
6	152396898	G	C	G152396898C	SYNE1	NM_182961.4(SYNE1):c.7433C>G:p.Ser2478Cys	coding	Benign/Likely_benign
6	152397214	C	T	C152397214T	SYNE1	NM_182961.4(SYNE1):c.7351-234G>A	noncoding	Benign
6	152397227	G	T	G152397227T	SYNE1	NM_182961.4(SYNE1):c.7351-247C>A	noncoding	Benign
6	152398467	G	A	G152398467A	SYNE1	NM_182961.4(SYNE1):c.7350+152C>T	noncoding	Benign
6	152398911	C	T	C152398911T	SYNE1	NM_182961.4(SYNE1):c.7238-180G>A	noncoding	Benign
6	152399059	A	G	A152399059G	SYNE1	NM_182961.4(SYNE1):c.7238-328T>C	noncoding	Benign
6	152399844	A	T	A152399844T	SYNE1	NM_182961.4(SYNE1):c.7030-21T>A	noncoding	Benign
6	152399894	T	C	T152399894C	SYNE1	NM_182961.4(SYNE1):c.7030-71A>G	noncoding	Benign
6	152399919	A	G	A152399919G	SYNE1	NM_182961.4(SYNE1):c.7030-96T>C	noncoding	Benign
6	152401093	A	G	A152401093G	SYNE1	NM_182961.4(SYNE1):c.7029+45T>C	noncoding	Benign
6	152401278	C	T	C152401278T	SYNE1	NM_182961.4(SYNE1):c.6889G>A:p.Gly2297Arg	coding	Benign
6	152401580	A	C	A152401580C	SYNE1	NM_182961.4(SYNE1):c.6826-239T>G	noncoding	Benign
6	152407244	T	G	T152407244G	SYNE1	NM_182961.4(SYNE1):c.6541-48A>C	noncoding	Benign
6	152407458	G	A	G152407458A	SYNE1	NM_182961.4(SYNE1):c.6541-262C>T	noncoding	Benign
6	152409138	T	C	T152409138C	SYNE1	NM_182961.4(SYNE1):c.6470A>G:p.Lys2157Arg	coding	Benign
6	152409821	G	A	G152409821A	SYNE1	NM_182961.4(SYNE1):c.6231-112C>T	noncoding	Benign
6	152413356	C	A	C152413356A	SYNE1	NM_182961.4(SYNE1):c.6226G>T:p.Glu2076Ter	coding	Pathogenic
6	152413447	A	C	A152413447C	SYNE1	NM_182961.4(SYNE1):c.6135T>G:p.Ile2045Met	coding	Benign/Likely_benign
6	152413747	C	T	C152413747T	SYNE1	NM_182961.4(SYNE1):c.6051-216G>A	noncoding	Benign
6	152417008	G	A	G152417008A	SYNE1	NM_182961.4(SYNE1):c.5429C>T:p.Ala1810Val	coding	Benign
6	152417200	A	C	A152417200C	SYNE1	NM_182961.4(SYNE1):c.5422-185T>G	noncoding	Benign
6	152417210	A	G	A152417210G	SYNE1	NM_182961.4(SYNE1):c.5422-195T>C	noncoding	Benign
6	152419649	T	A	T152419649A	SYNE1	NM_182961.4(SYNE1):c.5341A>T:p.Ile1781Phe	coding	Benign
6	152425458	A	T	A152425458T	SYNE1	NM_182961.4(SYNE1):c.5190T>A:p.Asp1730Glu	coding	Benign
6	152425487	C	A	C152425487A	SYNE1	NM_182961.4(SYNE1):c.5161G>T:p.Glu1721Ter	coding	Pathogenic
6	152427695	G	A	G152427695A	SYNE1	NM_182961.4(SYNE1):c.5098C>T:p.Gln1700Ter	coding	Pathogenic
6	152428242	G	A	G152428242A	SYNE1	NM_182961.4(SYNE1):c.4939C>T:p.Gln1647Ter	coding	Pathogenic
6	152428273	G	T	G152428273T	SYNE1	NM_182961.4(SYNE1):c.4908C>A:p.Tyr1636Ter	coding	Pathogenic
6	152428292	G	A	G152428292A	SYNE1	NM_182961.4(SYNE1):c.4889C>T:p.Ala1630Val	coding	Benign
6	152428405	C	T	C152428405T	SYNE1	NM_182961.4(SYNE1):c.4789-13G>A	noncoding	Benign/Likely_benign
6	152428529	T	C	T152428529C	SYNE1	NM_182961.4(SYNE1):c.4789-137A>G	noncoding	Benign
6	152429882	G	A	G152429882A	SYNE1	NM_182961.4(SYNE1):c.4788+230C>T	noncoding	Benign
6	152430143	G	T	G152430143T	SYNE1	NM_182961.4(SYNE1):c.4757C>A:p.Thr1586Lys	coding	Benign
6	152430291	A	C	A152430291C	SYNE1	NM_182961.4(SYNE1):c.4690-81T>G	noncoding	Benign
6	152430423	C	T	C152430423T	SYNE1	NM_182961.4(SYNE1):c.4689+59G>A	noncoding	Benign
6	152430431	C	G	C152430431G	SYNE1	NM_182961.4(SYNE1):c.4689+51G>C	noncoding	Benign
6	152430561	C	T	C152430561T	SYNE1	NM_182961.4(SYNE1):c.4610G>A:p.Arg1537Gln	coding	Benign/Likely_benign
6	152430575	G	A	G152430575A	SYNE1	NM_182961.4(SYNE1):c.4596C>T:p.Tyr1532=	coding	Benign/Likely_benign
6	152430658	C	A	C152430658A	SYNE1	NM_182961.4(SYNE1):c.4513G>T:p.Glu1505Ter	coding	Pathogenic
6	152433708	T	A	T152433708A	SYNE1	NM_182961.4(SYNE1):c.4461+87A>T	noncoding	Benign
6	152436089	G	A	G152436089A	SYNE1	NM_182961.4(SYNE1):c.4162C>T:p.Arg1388Trp	coding	Benign/Likely_benign
6	152440963	C	T	C152440963T	SYNE1	NM_182961.4(SYNE1):c.4149+167G>A	noncoding	Benign
6	152441326	T	C	T152441326C	SYNE1	NM_182961.4(SYNE1):c.4009-56A>G	noncoding	Benign
6	152441454	A	G	A152441454G	SYNE1	NM_182961.4(SYNE1):c.4009-184T>C	noncoding	Benign
6	152441520	A	G	A152441520G	SYNE1	NM_182961.4(SYNE1):c.4009-250T>C	noncoding	Benign
6	152442123	T	C	T152442123C	SYNE1	NM_182961.4(SYNE1):c.3960A>G:p.Thr1320=	coding	Benign/Likely_benign
6	152442193	G	A	G152442193A	SYNE1	NM_182961.4(SYNE1):c.3890C>T:p.Ala1297Val	coding	Benign
6	152442367	A	C	A152442367C	SYNE1	NM_182961.4(SYNE1):c.3838-122T>G	noncoding	Benign
6	152444444	C	T	C152444444T	SYNE1	NM_182961.4(SYNE1):c.3804G>A:p.Leu1268=	coding	Benign/Likely_benign
6	152447341	T	G	T152447341G	SYNE1	NM_182961.4(SYNE1):c.3669+117A>C	noncoding	Benign
6	152447448	A	G	A152447448G	SYNE1	NM_182961.4(SYNE1):c.3669+10T>C	noncoding	Benign/Likely_benign
6	152447661	T	G	T152447661G	SYNE1	NM_182961.4(SYNE1):c.3505-39A>C	noncoding	Benign
6	152449300	T	C	T152449300C	SYNE1	NM_182961.4(SYNE1):c.3504+233A>G	noncoding	Benign
6	152450714	G	A	G152450714A	SYNE1	NM_182961.4(SYNE1):c.3306C>T:p.His1102=	coding	Benign
6	152451113	A	T	A152451113T	SYNE1	NM_182961.4(SYNE1):c.3120T>A:p.Thr1040=	coding	Benign/Likely_benign
6	152451129	A	G	A152451129G	SYNE1	NM_182961.4(SYNE1):c.3104T>C:p.Val1035Ala	coding	Benign
6	152453362	C	T	C152453362T	SYNE1	NM_182961.4(SYNE1):c.3027+224G>A	noncoding	Benign
6	152453590	C	T	C152453590T	SYNE1	NM_182961.4(SYNE1):c.3023G>A:p.Trp1008Ter	coding	Pathogenic
6	152453618	C	T	C152453618T	SYNE1	NM_182961.4(SYNE1):c.2995G>A:p.Glu999Lys	coding	Benign/Likely_benign
6	152453782	A	G	A152453782G	SYNE1	NM_182961.4(SYNE1):c.2893-62T>C	noncoding	Benign
6	152455196	G	C	G152455196C	SYNE1	NM_182961.4(SYNE1):c.2892+230C>G	noncoding	Benign
6	152455326	G	A	G152455326A	SYNE1	NM_182961.4(SYNE1):c.2892+100C>T	noncoding	Benign
6	152455436	C	T	C152455436T	SYNE1	NM_182961.4(SYNE1):c.2882G>A:p.Arg961Gln	coding	Benign/Likely_benign
6	152455615	G	A	G152455615A	SYNE1	NM_182961.4(SYNE1):c.2728-25C>T	noncoding	Benign
6	152455916	T	C	T152455916C	SYNE1	NM_182961.4(SYNE1):c.2697A>G:p.Arg899=	coding	Benign
6	152455960	A	C	A152455960C	SYNE1	NM_182961.4(SYNE1):c.2653T>G:p.Leu885Val	coding	Benign
6	152458579	G	C	G152458579C	SYNE1	NM_182961.4(SYNE1):c.2568+178C>G	noncoding	Benign
6	152458789	G	A	G152458789A	SYNE1	NM_182961.4(SYNE1):c.2536C>T:p.Gln846Ter	coding	Pathogenic
6	152458798	G	A	G152458798A	SYNE1	NM_182961.4(SYNE1):c.2527C>T:p.Arg843Cys	coding	Benign
6	152458930	C	T	C152458930T	SYNE1	NM_182961.4(SYNE1):c.2395G>A:p.Val799Ile	coding	Benign
6	152461493	C	T	C152461493T	SYNE1	NM_182961.4(SYNE1):c.2394+104G>A	noncoding	Benign
6	152461798	G	A	G152461798A	SYNE1	NM_182961.4(SYNE1):c.2251-58C>T	noncoding	Benign
6	152462449	G	A	G152462449A	SYNE1	NM_182961.4(SYNE1):c.2250+289C>T	noncoding	Benign
6	152462560	T	A	T152462560A	SYNE1	NM_182961.4(SYNE1):c.2250+178A>T	noncoding	Benign
6	152462592	C	A	C152462592A	SYNE1	NM_182961.4(SYNE1):c.2250+146G>T	noncoding	Benign
6	152462768	C	T	C152462768T	SYNE1	NM_182961.4(SYNE1):c.2220G>A:p.Met740Ile	coding	Benign
6	152462811	T	C	T152462811C	SYNE1	NM_182961.4(SYNE1):c.2177A>G:p.Glu726Gly	coding	Benign/Likely_benign
6	152462919	G	A	G152462919A	SYNE1	NM_182961.4(SYNE1):c.2098-29C>T	noncoding	Benign/Likely_benign
6	152462940	C	T	C152462940T	SYNE1	NM_182961.4(SYNE1):c.2098-50G>A	noncoding	Benign/Likely_benign
6	152463315	C	T	C152463315T	SYNE1	NM_182961.4(SYNE1):c.2097+38G>A	noncoding	Benign
6	152463467	G	A	G152463467A	SYNE1	NM_182961.4(SYNE1):c.1983C>T:p.Asn661=	coding	Benign/Likely_benign
6	152463486	T	C	T152463486C	SYNE1	NM_182961.4(SYNE1):c.1964A>G:p.Gln655Arg	coding	Benign/Likely_benign
6	152463815	G	A	G152463815A	SYNE1	NM_182961.4(SYNE1):c.1933-298C>T	noncoding	Benign
6	152465278	G	A	G152465278A	SYNE1	NM_182961.4(SYNE1):c.1912C>T:p.Gln638Ter	coding	Pathogenic
6	152465312	T	C	T152465312C	SYNE1	NM_182961.4(SYNE1):c.1878A>G:p.Gln626=	coding	Benign/Likely_benign
6	152465352	G	A	G152465352A	SYNE1	NM_182961.4(SYNE1):c.1838C>T:p.Ser613Phe	coding	Benign/Likely_benign
6	152465396	T	G	T152465396G	SYNE1	NM_182961.4(SYNE1):c.1794A>C:p.Ser598=	coding	Benign/Likely_benign
6	152465612	G	A	G152465612A	SYNE1	NM_182961.4(SYNE1):c.1730-152C>T	noncoding	Benign
6	152465679	C	A	C152465679A	SYNE1	NM_182961.4(SYNE1):c.1730-219G>T	noncoding	Benign
6	152465968	G	A	G152465968A	SYNE1	NM_182961.4(SYNE1):c.1729+14C>T	noncoding	Benign/Likely_benign
6	152471667	G	C	G152471667C	SYNE1	NM_182961.4(SYNE1):c.1562C>G:p.Ser521Ter	coding	Pathogenic
6	152471746	T	C	T152471746C	SYNE1	NM_182961.4(SYNE1):c.1483A>G:p.Thr495Ala	coding	Benign/Likely_benign
6	152472277	C	A	C152472277A	SYNE1	NM_182961.4(SYNE1):c.1463+24G>T	noncoding	Benign
6	152472437	T	A	T152472437A	SYNE1	NM_182961.4(SYNE1):c.1351-24A>T	noncoding	Benign
6	152472440	A	G	A152472440G	SYNE1	NM_182961.4(SYNE1):c.1351-27T>C	noncoding	Benign
6	152484754	C	T	C152484754T	SYNE1	NM_182961.4(SYNE1):c.1185+81G>A	noncoding	Benign
6	152484789	T	C	T152484789C	SYNE1	NM_182961.4(SYNE1):c.1185+46A>G	noncoding	Benign
6	152484907	T	C	T152484907C	SYNE1	NM_182961.4(SYNE1):c.1113A>G:p.Pro371=	coding	Benign
6	152488392	A	T	A152488392T	SYNE1	NM_182961.4(SYNE1):c.1047+4T>A	noncoding	Benign
6	152488422	C	A	C152488422A	SYNE1	NM_182961.4(SYNE1):c.1021G>T:p.Glu341Ter	coding	Pathogenic
6	152488638	T	C	T152488638C	SYNE1	NM_182961.4(SYNE1):c.940-135A>G	noncoding	Benign
6	152502418	A	G	A152502418G	SYNE1	NM_182961.4(SYNE1):c.888+215T>C	noncoding	Benign
6	152502492	C	T	C152502492T	SYNE1	NM_182961.4(SYNE1):c.888+141G>A	noncoding	Benign
6	152504942	A	G	A152504942G	SYNE1	NM_182961.4(SYNE1):c.778+259T>C	noncoding	Benign
6	152505087	T	A	T152505087A	SYNE1	NM_182961.4(SYNE1):c.778+114A>T	noncoding	Benign
6	152505162	G	A	G152505162A	SYNE1	NM_182961.4(SYNE1):c.778+39C>T	noncoding	Benign
6	152505492	C	T	C152505492T	SYNE1	NM_182961.4(SYNE1):c.582-95G>A	noncoding	Benign
6	152509932	C	T	C152509932T	SYNE1	NM_182961.4(SYNE1):c.581+261G>A	noncoding	Benign
6	152510113	G	A	G152510113A	SYNE1	NM_182961.4(SYNE1):c.581+80C>T	noncoding	Benign
6	152510223	A	T	A152510223T	SYNE1	NM_182961.4(SYNE1):c.551T>A:p.Leu184Ter	coding	Pathogenic
6	152510949	T	G	T152510949G	SYNE1	NM_182961.4(SYNE1):c.402+62A>C	noncoding	Benign
6	152511000	T	C	T152511000C	SYNE1	NM_182961.4(SYNE1):c.402+11A>G	noncoding	Benign
6	152511655	T	C	T152511655C	SYNE1	NM_182961.4(SYNE1):c.310-552A>G	noncoding	Benign
6	152511903	G	A	G152511903A	SYNE1	NM_182961.4(SYNE1):c.310-800C>T	noncoding	Benign
6	152520515	G	A	G152520515A	SYNE1	NM_182961.4(SYNE1):c.253C>T:p.Arg85Ter	coding	Pathogenic
6	152520769	T	C	T152520769C	SYNE1	NM_182961.4(SYNE1):c.226-227A>G	noncoding	Benign
6	152520839	C	T	C152520839T	SYNE1	NM_182961.4(SYNE1):c.226-297G>A	noncoding	Benign
6	152525903	G	T	G152525903T	SYNE1	NM_182961.4(SYNE1):c.225+177C>A	noncoding	Benign
6	152526149	A	G	A152526149G	SYNE1	NM_182961.4(SYNE1):c.156T>C:p.Asp52=	coding	Benign/Likely_benign
6	152526200	G	A	G152526200A	SYNE1	NM_182961.4(SYNE1):c.130-25C>T	noncoding	Benign
6	152526411	C	G	C152526411G	SYNE1	NM_182961.4(SYNE1):c.130-236G>C	noncoding	Benign
6	152539917	G	T	G152539917T	SYNE1	NM_182961.4(SYNE1):c.129+43C>A	noncoding	Benign
6	152627974	A	G	A152627974G	SYNE1	NM_182961.4(SYNE1):c.67+291T>C	noncoding	Benign
6	152628095	T	G	T152628095G	SYNE1	NM_182961.4(SYNE1):c.67+170A>C	noncoding	Benign
6	152636814	A	G	A152636814G	SYNE1	NM_182961.4(SYNE1):c.-391-9T>C	noncoding	Benign
6	152754294	T	A	T152754294A	VIP	NM_003381.4(VIP):c.230+6T>A	noncoding	Benign
6	152756182	A	C	A152756182C	VIP	NM_003381.4(VIP):c.384A>C:p.Ala128=	coding	Benign
6	152756197	C	T	C152756197T	VIP	NM_003381.4(VIP):c.399C>T:p.Asn133=	coding	Benign
6	154089975	C	G	C154089975G	OPRM1	NM_001145287.2(OPRM1):c.140C>G:p.Ser47Cys	coding	Benign
6	154091250	G	A	G154091250A	OPRM1	NM_000914.4(OPRM1):c.942G>A:p.Thr314=	coding	Benign
6	154200025	A	G	A154200025G	IPCEF1	NM_001130699.1(IPCEF1):c.553T>C:p.Ser185Pro	coding	Benign
6	154442132	C	A	C154442132A	CNKSR3	NM_173515.4(CNKSR3):c.375G>T:p.Val125=	coding	Benign
6	154450098	T	A	T154450098A	CNKSR3	NM_173515.4(CNKSR3):c.213A>T:p.Ala71=	coding	Benign
6	155129244	G	C	G155129244C	TIAM2	NM_012454.3(TIAM2):c.21G>C:p.Gln7His	coding	Benign
6	155130330	T	C	T155130330C	TIAM2	NM_012454.3(TIAM2):c.1107T>C:p.Asp369=	coding	Benign
6	155130342	G	T	G155130342T	TIAM2	NM_012454.3(TIAM2):c.1119G>T:p.Lys373Asn	coding	Benign
6	155137431	C	T	C155137431T	TIAM2	NM_012454.3(TIAM2):c.1449C>T:p.Ala483=	coding	Benign
6	155165258	A	C	A155165258C	TIAM2	NM_012454.3(TIAM2):c.2215-5A>C	noncoding	Benign
6	155165401	A	G	A155165401G	TIAM2	NM_012454.3(TIAM2):c.2353A>G:p.Ile785Val	coding	Benign
6	155182256	G	A	G155182256A	TIAM2	NM_012454.3(TIAM2):c.2738G>A:p.Arg913His	coding	Benign
6	155182296	C	T	C155182296T	TIAM2	NM_012454.3(TIAM2):c.2778C>T:p.Pro926=	coding	Benign
6	155183335	G	A	G155183335A	TIAM2	NM_012454.3(TIAM2):c.2899G>A:p.Gly967Arg	coding	Benign
6	155183371	G	A	G155183371A	TIAM2	NM_012454.3(TIAM2):c.2935G>A:p.Ala979Thr	coding	Benign
6	155256731	T	A	T155256731A	TIAM2	NM_016020.4(TFB1M):c.*1105A>T	coding	Benign
6	155311293	G	A	G155311293A	TFB1M	NM_016020.4(TFB1M):c.180C>T:p.Tyr60=	coding	Benign
6	155396950	G	A	G155396950A	NOX3	NM_015718.3(NOX3):c.1593C>T:p.Gly531=	coding	Benign
6	156777998	G	A	G156777998A	ARID1B	NM_020732.3(ARID1B):c.69G>A:p.Ala23=	coding	Benign/Likely_benign
6	156778292	A	G	A156778292G	ARID1B	NM_020732.3(ARID1B):c.363A>G:p.Gln121=	coding	Benign
6	156778665	G	A	G156778665A	ARID1B	NM_020732.3(ARID1B):c.736G>A:p.Gly246Ser	coding	Benign
6	156778689	C	T	C156778689T	ARID1B	NM_020732.3(ARID1B):c.760C>T:p.Gln254Ter	coding	Pathogenic
6	156778698	G	T	G156778698T	ARID1B	NM_020732.3(ARID1B):c.769G>T:p.Gly257Ter	coding	Pathogenic
6	156778779	C	T	C156778779T	ARID1B	NM_020732.3(ARID1B):c.850C>T:p.Gln284Ter	coding	Pathogenic
6	156778871	C	A	C156778871A	ARID1B	NM_020732.3(ARID1B):c.942C>A:p.Gly314=	coding	Benign
6	156779214	A	G	A156779214G	ARID1B	NM_020732.3(ARID1B):c.1285A>G:p.Met429Val	coding	Benign
6	156779289	C	T	C156779289T	ARID1B	NM_020732.3(ARID1B):c.1360C>T:p.Gln454Ter	coding	Pathogenic
6	156779412	C	T	C156779412T	ARID1B	NM_020732.3(ARID1B):c.1483C>T:p.Gln495Ter	coding	Pathogenic
6	156829296	C	T	C156829296T	ARID1B	NM_020732.3(ARID1B):c.1612C>T:p.Gln538Ter	coding	Pathogenic
6	156829302	C	T	C156829302T	ARID1B	NM_020732.3(ARID1B):c.1618C>T:p.Gln540Ter	coding	Pathogenic
6	156829305	C	T	C156829305T	ARID1B	NM_001374828.1(ARID1B):c.1870C>T:p.Gln624Ter	coding	Pathogenic
6	156829358	T	G	T156829358G	ARID1B	NM_001374828.1(ARID1B):c.1923T>G:p.Tyr641Ter	coding	Pathogenic
6	156829362	A	G	A156829362G	ARID1B	NM_020732.3(ARID1B):c.1678A>G:p.Ile560Val	coding	Benign
6	156829398	G	T	G156829398T	ARID1B	NM_001374828.1(ARID1B):c.1963G>T:p.Gly655Ter	coding	Pathogenic
6	156829419	C	T	C156829419T	ARID1B	NM_017519.2(ARID1B):c.1735C>T:p.Gln579Ter	coding	Pathogenic
6	156871638	G	T	G156871638T	ARID1B	NM_020732.3(ARID1B):c.1762G>T:p.Glu588Ter	coding	Pathogenic
6	156901427	C	T	C156901427T	ARID1B	NM_020732.3(ARID1B):c.1828C>T:p.Gln610Ter	coding	Pathogenic
6	156901496	C	T	C156901496T	ARID1B	NM_001374828.1(ARID1B):c.2107C>T:p.Gln703Ter	coding	Pathogenic
6	156901502	C	T	C156901502T	ARID1B	NM_017519.2(ARID1B):c.1864C>T:p.Gln622Ter	coding	Pathogenic
6	156901513	C	A	C156901513A	ARID1B	NM_001346813.1(ARID1B):c.1875C>A:p.Tyr625Ter	coding	Pathogenic
6	156935463	T	A	T156935463A	ARID1B	NM_020732.3(ARID1B):c.1927-3T>A	noncoding	Benign
6	156935516	C	T	C156935516T	ARID1B	NM_020732.3(ARID1B):c.1977C>T:p.Pro659=	coding	Benign/Likely_benign
6	157084701	G	T	G157084701T	ARID1B	NM_020732.3(ARID1B):c.2077G>T:p.Glu693Ter	coding	Pathogenic/Likely_pathogenic
6	157084773	C	T	C157084773T	ARID1B	NM_020732.3(ARID1B):c.2149C>T:p.Gln717Ter	coding	Pathogenic
6	157084796	G	A	G157084796A	ARID1B	NM_020732.3(ARID1B):c.2172G>A:p.Ala724=	coding	Benign
6	157084866	C	T	C157084866T	ARID1B	NM_001363725.2(ARID1B):c.-48C>T	coding	Pathogenic
6	157084872	C	T	C157084872T	ARID1B	NM_020732.3(ARID1B):c.2248C>T:p.Arg750Ter	coding	Pathogenic
6	157110528	G	A	G157110528A	ARID1B	NM_020732.3(ARID1B):c.2338G>A:p.Ala780Thr	coding	Benign
6	157110552	C	T	C157110552T	ARID1B	NM_020732.3(ARID1B):c.2362C>T:p.Gln788Ter	coding	Pathogenic
6	157110563	T	C	T157110563C	ARID1B	NM_001374828.1(ARID1B):c.2581+2T>C	noncoding	Pathogenic
6	157133075	C	T	C157133075T	ARID1B	NM_020732.3(ARID1B):c.2419C>T:p.Pro807Ser	coding	Benign
6	157148764	C	T	C157148764T	ARID1B	NM_020732.3(ARID1B):c.2692C>T:p.Arg898Ter	coding	Pathogenic
6	157148845	C	T	C157148845T	ARID1B	NM_020732.3(ARID1B):c.2773C>T:p.Gln925Ter	coding	Pathogenic
6	157148848	C	T	C157148848T	ARID1B	NM_020732.3(ARID1B):c.2776C>T:p.Gln926Ter	coding	Pathogenic
6	157167056	G	A	G157167056A	ARID1B	NM_020732.3(ARID1B):c.2896G>A:p.Gly966Ser	coding	Benign
6	157167101	C	T	C157167101T	ARID1B	NM_017519.2(ARID1B):c.2902C>T:p.Gln968Ter	coding	Pathogenic
6	157167138	A	T	A157167138T	ARID1B	NM_020732.3(ARID1B):c.2978A>T:p.Gln993Leu	coding	Benign/Likely_benign
6	157167186	G	A	G157167186A	ARID1B	NM_020732.3(ARID1B):c.3025+1G>A	coding	Pathogenic
6	157167191	C	T	C157167191T	ARID1B	NM_020732.3(ARID1B):c.3025+6C>T	noncoding	Benign/Likely_benign
6	157174049	A	T	A157174049T	ARID1B	NM_001374828.1(ARID1B):c.3277A>T:p.Lys1093Ter	coding	Pathogenic
6	157174117	G	A	G157174117A	ARID1B	NM_001374828.1(ARID1B):c.3345G>A:p.Lys1115=	coding	Pathogenic
6	157174118	G	A	G157174118A	ARID1B	NM_001374828.1(ARID1B):c.3345+1G>A	coding	Pathogenic
6	157181016	C	G	C157181016G	ARID1B	NM_020732.3(ARID1B):c.3183C>G:p.Tyr1061Ter	coding	Pathogenic
6	157181056	C	T	C157181056T	ARID1B	NM_020732.3(ARID1B):c.3223C>T:p.Arg1075Ter	coding	Pathogenic
6	157181061	C	G	C157181061G	ARID1B	NM_020732.3(ARID1B):c.3228C>G:p.Tyr1076Ter	coding	Pathogenic
6	157181096	C	G	C157181096G	ARID1B	NM_020732.3(ARID1B):c.3263C>G:p.Ser1088Ter	coding	Pathogenic
6	157181137	C	T	C157181137T	ARID1B	NM_020732.3(ARID1B):c.3304C>T:p.Arg1102Ter	coding	Pathogenic
6	157181180	T	G	T157181180G	ARID1B	NM_020732.3(ARID1B):c.3345+2T>G	noncoding	Pathogenic
6	157184246	A	T	A157184246T	ARID1B	NM_020732.3(ARID1B):c.3361A>T:p.Lys1121Ter	coding	Pathogenic
6	157184250	G	A	G157184250A	ARID1B	NM_020732.3(ARID1B):c.3365G>A:p.Trp1122Ter	coding	Pathogenic
6	157184284	C	T	C157184284T	ARID1B	NM_020732.3(ARID1B):c.3399C>T:p.Thr1133=	coding	Benign/Likely_benign
6	157184315	C	T	C157184315T	ARID1B	NM_020732.3(ARID1B):c.3430C>T:p.Gln1144Ter	coding	Pathogenic
6	157184344	G	A	G157184344A	ARID1B	NM_020732.3(ARID1B):c.3459G>A:p.Glu1153=	coding	Benign
6	157184420	C	T	C157184420T	ARID1B	NM_020732.3(ARID1B):c.3535C>T:p.Gln1179Ter	coding	Pathogenic
6	157184436	G	A	G157184436A	ARID1B	NM_020732.3(ARID1B):c.3550+1G>A	coding	Pathogenic
6	157189648	C	A	C157189648A	ARID1B	NM_001374828.1(ARID1B):c.3926C>A:p.Ser1309Ter	coding	Pathogenic
6	157189659	C	T	C157189659T	ARID1B	NM_017519.2(ARID1B):c.3529C>T:p.Gln1177Ter	coding	Pathogenic
6	157189668	C	T	C157189668T	ARID1B	NM_001374828.1(ARID1B):c.3946C>T:p.Gln1316Ter	coding	Pathogenic
6	157189781	G	C	G157189781C	ARID1B	NM_017519.2(ARID1B):c.3650+1G>C	coding	Pathogenic
6	157190085	C	A	C157190085A	ARID1B	NM_020732.3(ARID1B):c.3737C>A:p.Ser1246Ter	coding	Pathogenic
6	157190211	G	A	G157190211A	ARID1B	NM_020732.3(ARID1B):c.3862+1G>A	coding	Pathogenic
6	157196200	C	T	C157196200T	ARID1B	NM_020732.3(ARID1B):c.3898C>T:p.Gln1300Ter	coding	Pathogenic
6	157196221	C	T	C157196221T	ARID1B	NM_017519.2(ARID1B):c.3880C>T:p.Gln1294Ter	coding	Pathogenic
6	157196232	C	A	C157196232A	ARID1B	NM_001374828.1(ARID1B):c.4299C>A:p.Tyr1433Ter	coding	Pathogenic
6	157196295	T	A	T157196295A	ARID1B	NM_020732.3(ARID1B):c.3993T>A:p.Tyr1331Ter	coding	Pathogenic
6	157196311	C	T	C157196311T	ARID1B	NM_020732.3(ARID1B):c.4009C>T:p.Arg1337Ter	coding	Pathogenic
6	157198804	A	G	A157198804G	ARID1B	NM_020732.3(ARID1B):c.4014-7A>G	noncoding	Benign
6	157198810	G	A	G157198810A	ARID1B	NM_020732.3(ARID1B):c.4014-1G>A	noncoding	Pathogenic
6	157198835	T	A	T157198835A	ARID1B	NM_017519.2(ARID1B):c.3999T>A:p.Tyr1333Ter	coding	Pathogenic
6	157198899	C	T	C157198899T	ARID1B	NM_020732.3(ARID1B):c.4102C>T:p.Gln1368Ter	coding	Pathogenic
6	157198902	C	T	C157198902T	ARID1B	NM_020732.3(ARID1B):c.4105C>T:p.Gln1369Ter	coding	Pathogenic
6	157198908	G	C	G157198908C	ARID1B	NM_020732.3(ARID1B):c.4110+1G>C	coding	Pathogenic
6	157198908	G	T	G157198908T	ARID1B	NM_001374828.1(ARID1B):c.4479+1G>T	coding	Pathogenic
6	157200734	C	G	C157200734G	ARID1B	NM_020732.3(ARID1B):c.4140C>G:p.Tyr1380Ter	coding	Pathogenic
6	157200918	G	T	G157200918T	ARID1B	NM_020732.3(ARID1B):c.4324G>T:p.Gly1442Ter	coding	Pathogenic
6	157201019	C	G	C157201019G	ARID1B	NM_017519.2(ARID1B):c.4386C>G:p.Tyr1462Ter	coding	Pathogenic
6	157201037	T	G	T157201037G	ARID1B	NM_020732.3(ARID1B):c.4443T>G:p.Pro1481=	coding	Benign
6	157201050	C	T	C157201050T	ARID1B	NM_020732.3(ARID1B):c.4456C>T:p.Gln1486Ter	coding	Pathogenic
6	157201064	C	G	C157201064G	ARID1B	NM_020732.3(ARID1B):c.4470C>G:p.Tyr1490Ter	coding	Pathogenic
6	157201089	A	T	A157201089T	ARID1B	NM_020732.3(ARID1B):c.4495A>T:p.Met1499Leu	coding	Benign
6	157201118	T	C	T157201118C	ARID1B	NM_020732.3(ARID1B):c.4524T>C:p.His1508=	coding	Benign
6	157201130	G	A	G157201130A	ARID1B	NM_020732.3(ARID1B):c.4536G>A:p.Trp1512Ter	coding	Pathogenic
6	157201165	C	A	C157201165A	ARID1B	NM_001374828.1(ARID1B):c.4940C>A:p.Ser1647Ter	coding	Pathogenic
6	157201190	C	T	C157201190T	ARID1B	NM_020732.3(ARID1B):c.4596C>T:p.Ile1532=	coding	Benign
6	157201215	C	T	C157201215T	ARID1B	NM_001374828.1(ARID1B):c.4990C>T:p.Gln1664Ter	coding	Pathogenic
6	157201226	G	A	G157201226A	ARID1B	NM_020732.3(ARID1B):c.4632G>A:p.Pro1544=	coding	Benign
6	157201335	C	T	C157201335T	ARID1B	NM_020732.3(ARID1B):c.4741C>T:p.Gln1581Ter	coding	Pathogenic
6	157201464	C	T	C157201464T	ARID1B	NM_020732.3(ARID1B):c.4870C>T:p.Arg1624Ter	coding	Pathogenic
6	157203997	G	C	G157203997C	ARID1B	NM_001374828.1(ARID1B):c.5394+1G>C	coding	Pathogenic
6	157206348	A	C	A157206348C	ARID1B	NM_020732.3(ARID1B):c.5207A>C:p.Glu1736Ala	coding	Benign
6	157206407	G	T	G157206407T	ARID1B	NM_001374828.1(ARID1B):c.5635G>T:p.Glu1879Ter	coding	Pathogenic
6	157206470	A	T	A157206470T	ARID1B	NM_017519.2(ARID1B):c.5290A>T:p.Lys1764Ter	coding	Pathogenic
6	157206479	C	T	C157206479T	ARID1B	NM_020732.3(ARID1B):c.5338C>T:p.Gln1780Ter	coding	Pathogenic
6	157206545	C	T	C157206545T	ARID1B	NM_020732.3(ARID1B):c.5404C>T:p.Arg1802Ter	coding	Pathogenic
6	157206598	G	A	G157206598A	ARID1B	NM_001374828.1(ARID1B):c.5826G>A:p.Trp1942Ter	coding	Pathogenic
6	157206863	C	T	C157206863T	ARID1B	NM_020732.3(ARID1B):c.5722C>T:p.Gln1908Ter	coding	Pathogenic
6	157206917	C	T	C157206917T	ARID1B	NM_017519.2(ARID1B):c.5737C>T:p.Arg1913Ter	coding	Pathogenic
6	157206943	C	T	C157206943T	ARID1B	NM_020732.3(ARID1B):c.5802C>T:p.Ile1934=	coding	Benign/Likely_benign
6	157206952	G	A	G157206952A	ARID1B	NM_020732.3(ARID1B):c.5811G>A:p.Trp1937Ter	coding	Pathogenic
6	157206953	C	T	C157206953T	ARID1B	NM_001374828.1(ARID1B):c.6181C>T:p.Gln2061Ter	coding	Pathogenic
6	157206971	C	T	C157206971T	ARID1B	NM_020732.3(ARID1B):c.5830C>T:p.Arg1944Ter	coding	Pathogenic
6	157207063	C	T	C157207063T	ARID1B	NM_020732.3(ARID1B):c.5922C>T:p.Ile1974=	coding	Benign
6	157207109	C	T	C157207109T	ARID1B	NM_020732.3(ARID1B):c.5968C>T:p.Arg1990Ter	coding	Pathogenic
6	157207180	G	A	G157207180A	ARID1B	NM_020732.3(ARID1B):c.6039G>A:p.Trp2013Ter	coding	Pathogenic
6	157207241	C	T	C157207241T	ARID1B	NM_017519.2(ARID1B):c.6061C>T:p.Gln2021Ter	coding	Pathogenic
6	157207463	C	T	C157207463T	ARID1B	NM_020732.3(ARID1B):c.6322C>T:p.Gln2108Ter	coding	Pathogenic
6	157207523	C	T	C157207523T	ARID1B	NM_020732.3(ARID1B):c.6382C>T:p.Arg2128Ter	coding	Pathogenic
6	157207595	C	T	C157207595T	ARID1B	NM_020732.3(ARID1B):c.6454C>T:p.Gln2152Ter	coding	Pathogenic
6	157207688	C	T	C157207688T	ARID1B	NM_020732.3(ARID1B):c.6547C>T:p.Gln2183Ter	coding	Pathogenic
6	157207795	C	T	C157207795T	ARID1B	NM_020732.3(ARID1B):c.6654C>T:p.His2218=	coding	Benign/Likely_benign
6	157672910	G	A	G157672910A	ZDHHC14	NM_024630.3(ZDHHC14):c.1255G>A:p.Ala419Thr	coding	Benign
6	157901963	G	A	G157901963A	SNX9	NM_016224.5(SNX9):c.538G>A:p.Asp180Asn	coding	Benign
6	157936048	C	T	C157936048T	SNX9	NM_016224.5(SNX9):c.1443+8C>T	noncoding	Benign
6	158062174	G	A	G158062174A	SYNJ2	NM_003898.4(SYNJ2):c.1127+10G>A	noncoding	Benign
6	158096002	G	A	G158096002A	SYNJ2	NM_003898.4(SYNJ2):c.4129G>A:p.Val1377Ile	coding	Benign
6	158111350	T	C	T158111350C	SERAC1	NM_032861.4(SERAC1):c.*16A>G	noncoding	Benign
6	158111415	C	G	C158111415G	SERAC1	NM_032861.4(SERAC1):c.1916G>C:p.Arg639Pro	coding	Pathogenic
6	158114814	C	T	C158114814T	SERAC1	NM_032861.4(SERAC1):c.1659G>A:p.Ser553=	coding	Benign
6	158115084	A	T	A158115084T	SERAC1	NM_032861.4(SERAC1):c.1502-113T>A	noncoding	Benign
6	158116193	C	G	C158116193G	SERAC1	NM_032861.4(SERAC1):c.1493G>C:p.Ser498Thr	coding	Pathogenic/Likely_pathogenic
6	158117715	C	T	C158117715T	SERAC1	NM_032861.4(SERAC1):c.1403+12G>A	noncoding	Benign
6	158117726	C	G	C158117726G	SERAC1	NM_032861.4(SERAC1):c.1403+1G>C	noncoding	Pathogenic
6	158117734	T	A	T158117734A	SERAC1	NM_032861.4(SERAC1):c.1396A>T:p.Met466Leu	coding	Benign
6	158118796	A	G	A158118796G	SERAC1	NM_032861.4(SERAC1):c.1308+233T>C	noncoding	Benign
6	158119044	C	T	C158119044T	SERAC1	NM_032861.4(SERAC1):c.1293G>A:p.Thr431=	coding	Benign
6	158120143	G	A	G158120143A	SERAC1	NM_032861.4(SERAC1):c.1166+282C>T	noncoding	Benign
6	158120436	T	C	T158120436C	SERAC1	NM_032861.4(SERAC1):c.1155A>G:p.Gln385=	coding	Benign
6	158120439	G	C	G158120439C	SERAC1	NM_032861.4(SERAC1):c.1152C>G:p.Pro384=	coding	Benign/Likely_benign
6	158120454	T	C	T158120454C	SERAC1	NM_032861.4(SERAC1):c.1137A>G:p.Val379=	coding	Benign
6	158120457	G	A	G158120457A	SERAC1	NM_032861.4(SERAC1):c.1134C>T:p.Gly378=	coding	Benign
6	158120465	G	A	G158120465A	SERAC1	NM_032861.4(SERAC1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
6	158120489	G	A	G158120489A	SERAC1	NM_032861.4(SERAC1):c.1102C>T:p.Arg368Ter	coding	Pathogenic
6	158120586	G	A	G158120586A	SERAC1	NM_032861.4(SERAC1):c.1016-11C>T	noncoding	Benign
6	158128206	C	T	C158128206T	SERAC1	NM_032861.4(SERAC1):c.917G>A:p.Arg306Gln	coding	Benign
6	158128207	G	A	G158128207A	SERAC1	NM_032861.4(SERAC1):c.916C>T:p.Arg306Ter	coding	Pathogenic
6	158130496	A	C	A158130496C	SERAC1	NM_032861.4(SERAC1):c.739-10T>G	noncoding	Benign
6	158144236	G	C	G158144236C	SERAC1	NM_032861.4(SERAC1):c.609+63C>G	noncoding	Benign
6	158144415	G	A	G158144415A	SERAC1	NM_032861.4(SERAC1):c.493C>T:p.Gln165Ter	coding	Pathogenic
6	158146827	G	A	G158146827A	SERAC1	NM_032861.4(SERAC1):c.442C>T:p.Arg148Ter	coding	Pathogenic
6	158146829	G	A	G158146829A	SERAC1	NM_032861.4(SERAC1):c.440C>T:p.Thr147Met	coding	Benign
6	158146905	T	C	T158146905C	SERAC1	NM_032861.4(SERAC1):c.364A>G:p.Ser122Gly	coding	Benign
6	158147129	G	A	G158147129A	SERAC1	NM_032861.4(SERAC1):c.356-216C>T	noncoding	Benign
6	158148654	G	A	G158148654A	SERAC1	NM_032861.4(SERAC1):c.355+211C>T	noncoding	Benign
6	158148854	T	C	T158148854C	SERAC1	NM_032861.4(SERAC1):c.355+11A>G	noncoding	Benign
6	158150469	G	A	G158150469A	SERAC1	NM_032861.4(SERAC1):c.249C>T:p.Asp83=	coding	Benign
6	158150579	A	T	A158150579T	SERAC1	NM_032861.4(SERAC1):c.139T>A:p.Phe47Ile	coding	Benign
6	158150623	G	C	G158150623C	SERAC1	NM_032861.4(SERAC1):c.129-34C>G	noncoding	Benign
6	158150674	G	C	G158150674C	SERAC1	NM_032861.4(SERAC1):c.129-85C>G	noncoding	Benign
6	158155516	G	A	G158155516A	SERAC1	NM_032861.4(SERAC1):c.92-165C>T	noncoding	Pathogenic
6	158155590	C	G	C158155590G	SERAC1	NM_032861.4(SERAC1):c.92-239G>C	noncoding	Pathogenic
6	158158205	T	C	T158158205C	SERAC1	NM_032861.4(SERAC1):c.91+68A>G	noncoding	Benign
6	158158275	A	G	A158158275G	SERAC1	NM_032861.4(SERAC1):c.89T>C:p.Ile30Thr	coding	Benign/Likely_benign
6	158158302	G	A	G158158302A	SERAC1	NM_032861.4(SERAC1):c.62C>T:p.Pro21Leu	coding	Benign/Likely_benign
6	158158342	C	T	C158158342T	SERAC1	NM_032861.4(SERAC1):c.22G>A:p.Val8Ile	coding	Benign
6	158170532	T	A	T158170532A	GTF2H5	NM_207118.3(GTF2H5):c.29T>A:p.Ile10Lys	coding	Pathogenic
6	158191990	A	T	A158191990T	GTF2H5	NM_207118.3(GTF2H5):c.49A>T:p.Lys17Ter	coding	Pathogenic
6	158192003	T	C	T158192003C	GTF2H5	NM_207118.2(GTF2H5):c.62T>C:p.Leu21Pro	coding	Pathogenic
6	158192104	G	T	G158192104T	GTF2H5	NM_207118.3(GTF2H5):c.163G>T:p.Glu55Ter	coding	Pathogenic
6	158192107	C	T	C158192107T	GTF2H5	NM_207118.2(GTF2H5):c.166C>T:p.Arg56Ter	coding	Pathogenic
6	158501997	G	A	G158501997A	TULP4	NM_020245.5(TULP4):c.2334G>A:p.Pro778=	coding	Benign
6	158502846	G	A	G158502846A	TULP4	NM_020245.5(TULP4):c.3183G>A:p.Pro1061=	coding	Benign
6	158503756	T	C	T158503756C	TULP4	NM_020245.5(TULP4):c.4093T>C:p.Leu1365=	coding	Benign
6	158608455	C	T	C158608455T	TMEM181	NM_020823.2(TMEM181):c.919C>T:p.Arg307Cys	coding	Benign
6	158767377	C	G	C158767377G	EZR	NM_001111077.2(EZR):c.1480G>C:p.Ala494Pro	coding	Benign
6	158769395	A	T	A158769395T	EZR	NM_001111077.2(EZR):c.1275T>A:p.Thr425=	coding	Benign
6	158769847	T	G	T158769847G	EZR	NM_001111077.2(EZR):c.1188A>C:p.Ala396=	coding	Benign
6	158769904	C	T	C158769904T	EZR	NM_001111077.2(EZR):c.1131G>A:p.Glu377=	coding	Benign
6	158770792	A	G	A158770792G	EZR	NM_001111077.2(EZR):c.1062T>C:p.Tyr354=	coding	Benign
6	158785410	G	A	G158785410A	EZR	NM_001111077.2(EZR):c.366C>T:p.Ala122=	coding	Benign
6	158787177	T	C	T158787177C	EZR	NM_001111077.2(EZR):c.123A>G:p.Glu41=	coding	Benign
6	158977659	T	C	T158977659C	RSPH3	NM_031924.8(RSPH3):c.1136A>G:p.Gln379Arg	coding	Benign
6	158977771	C	T	C158977771T	RSPH3	NM_031924.8(RSPH3):c.1024G>A:p.Glu342Lys	coding	Benign
6	158977803	T	G	T158977803G	RSPH3	NM_031924.8(RSPH3):c.992A>C:p.His331Pro	coding	Benign
6	158977839	C	T	C158977839T	RSPH3	NM_031924.8(RSPH3):c.956G>A:p.Arg319His	coding	Benign
6	158980829	C	T	C158980829T	RSPH3	NM_031924.6(RSPH3):c.1230G>A:p.Pro410=	coding	Benign
6	158980866	C	T	C158980866T	RSPH3	NM_031924.8(RSPH3):c.767G>A:p.Arg256Gln	coding	Benign
6	158980867	G	A	G158980867A	RSPH3	NM_031924.8(RSPH3):c.766C>T:p.Arg256Ter	coding	Pathogenic
6	158982496	G	A	G158982496A	RSPH3	NM_031924.8(RSPH3):c.685C>T:p.Arg229Ter	coding	Pathogenic
6	158982502	G	A	G158982502A	RSPH3	NM_031924.8(RSPH3):c.679C>T:p.Arg227Ter	coding	Pathogenic
6	158986323	T	C	T158986323C	RSPH3	NM_031924.8(RSPH3):c.303A>G:p.Thr101=	coding	Benign
6	158986383	C	T	C158986383T	RSPH3	NM_031924.8(RSPH3):c.243G>A:p.Arg81=	coding	Benign
6	158986384	C	T	C158986384T	RSPH3	NM_031924.8(RSPH3):c.242G>A:p.Arg81Gln	coding	Benign
6	158986415	G	A	G158986415A	RSPH3	NM_031924.8(RSPH3):c.211C>T:p.Arg71Trp	coding	Benign
6	158986418	C	T	C158986418T	RSPH3	NM_031924.6(RSPH3):c.634G>A:p.Gly212Arg	coding	Benign
6	158986423	T	C	T158986423C	RSPH3	NM_031924.8(RSPH3):c.205-2A>G	noncoding	Pathogenic
6	158993853	G	A	G158993853A	RSPH3	NM_031924.8(RSPH3):c.190C>T:p.Gln64Ter	coding	Pathogenic
6	158993874	G	A	G158993874A	RSPH3	NM_031924.8(RSPH3):c.169C>T:p.Arg57Ter	coding	Pathogenic
6	158993902	T	C	T158993902C	RSPH3	NM_031924.8(RSPH3):c.141A>G:p.Gly47=	coding	Benign
6	158999513	G	C	G158999513C	RSPH3	NM_031924.8(RSPH3):c.38C>G:p.Pro13Arg	coding	Benign
6	158999516	G	A	G158999516A	RSPH3	NM_031924.8(RSPH3):c.35C>T:p.Ala12Val	coding	Benign
6	158999770	G	T	G158999770T	RSPH3	NM_031924.8(RSPH3):c.-220C>A	coding	Benign
6	159036984	G	T	G159036984T	TAGAP	NM_054114.5(TAGAP):c.1039C>A:p.Pro347Thr	coding	Benign
6	159036986	C	T	C159036986T	TAGAP	NM_054114.5(TAGAP):c.1037G>A:p.Gly346Asp	coding	Benign
6	159036992	C	T	C159036992T	TAGAP	NM_054114.5(TAGAP):c.1031G>A:p.Ser344Asn	coding	Benign
6	159038162	G	A	G159038162A	TAGAP	NM_054114.5(TAGAP):c.850C>T:p.His284Tyr	coding	Benign
6	159215135	C	T	C159215135T	FNDC1	NM_032532.3(FNDC1):c.651C>T:p.His217=	coding	Benign
6	159225577	G	A	G159225577A	FNDC1	NM_032532.3(FNDC1):c.927G>A:p.Arg309=	coding	Benign
6	159229816	A	G	A159229816G	FNDC1	NM_032532.3(FNDC1):c.1182A>G:p.Glu394=	coding	Benign
6	159229942	G	A	G159229942A	FNDC1	NM_032532.3(FNDC1):c.1308G>A:p.Arg436=	coding	Benign
6	159231878	G	A	G159231878A	FNDC1	NM_032532.3(FNDC1):c.1370-4G>A	noncoding	Benign
6	159233162	C	T	C159233162T	FNDC1	NM_032532.3(FNDC1):c.2650C>T:p.Pro884Ser	coding	Benign
6	159234103	T	C	T159234103C	FNDC1	NM_032532.3(FNDC1):c.3591T>C:p.Ser1197=	coding	Benign
6	159249043	T	C	T159249043C	FNDC1	NM_032532.3(FNDC1):c.4695T>C:p.Tyr1565=	coding	Benign
6	159267816	G	A	G159267816A	FNDC1	NM_032532.3(FNDC1):c.5459G>A:p.Ser1820Asn	coding	Benign
6	159682583	A	G	A159682583G	SOD2	NM_000636.4(SOD2):c.579T>C:p.Tyr193=	coding	Benign
6	159692671	C	T	C159692671T	SOD2	NM_000636.4(SOD2):c.216G>A:p.Ala72=	coding	Benign
6	159775264	T	G	T159775264G	ACAT2	NM_005891.3(ACAT2):c.585T>G:p.Ala195=	coding	Benign
6	159777395	C	G	C159777395G	ACAT2	NM_005891.3(ACAT2):c.851C>G:p.Ser284Cys	coding	Benign
6	160027232	A	G	A160027232G	IGF2R	NM_000876.3(IGF2R):c.694A>G:p.Thr232Ala	coding	Benign
6	160027283	C	T	C160027283T	IGF2R	NM_000876.3(IGF2R):c.745C>T:p.Arg249Trp	coding	Benign
6	160047915	A	G	A160047915G	IGF2R	NM_000876.3(IGF2R):c.2345+8A>G	noncoding	Benign
6	160048478	C	G	C160048478G	IGF2R	NM_000876.3(IGF2R):c.2449C>G:p.Leu817Val	coding	Benign
6	160048510	A	G	A160048510G	IGF2R	NM_000876.3(IGF2R):c.2481A>G:p.Ala827=	coding	Benign
6	160061560	C	T	C160061560T	IGF2R	NM_000876.3(IGF2R):c.3320C>T:p.Thr1107Met	coding	Benign
6	160063548	C	T	C160063548T	IGF2R	NM_000876.3(IGF2R):c.3804C>T:p.Asp1268=	coding	Benign
6	160064518	G	A	G160064518A	IGF2R	NM_000876.3(IGF2R):c.4004G>A:p.Arg1335His	coding	Benign
6	160068372	G	A	G160068372A	IGF2R	NM_000876.3(IGF2R):c.4239G>A:p.Pro1413=	coding	Benign
6	160069961	G	T	G160069961T	IGF2R	NM_000876.3(IGF2R):c.4346G>T:p.Gly1449Val	coding	Pathogenic
6	160070006	G	A	G160070006A	IGF2R	NM_000876.3(IGF2R):c.4391G>A:p.Gly1464Glu	coding	Pathogenic
6	160071915	C	T	C160071915T	IGF2R	NM_000876.3(IGF2R):c.4449C>T:p.Ser1483=	coding	Benign
6	160075935	C	T	C160075935T	IGF2R	NM_000876.3(IGF2R):c.5255C>T:p.Ala1752Val	coding	Benign
6	160078349	C	T	C160078349T	IGF2R	NM_000876.3(IGF2R):c.5465C>T:p.Thr1822Met	coding	Benign
6	160079596	G	A	G160079596A	IGF2R	NM_000876.3(IGF2R):c.5495G>A:p.Arg1832His	coding	Benign
6	160080143	G	A	G160080143A	IGF2R	NM_000876.3(IGF2R):c.5701G>A:p.Val1901Ile	coding	Benign
6	160089173	T	C	T160089173C	IGF2R	NM_000876.3(IGF2R):c.6387T>C:p.Pro2129=	coding	Benign
6	160089242	T	C	T160089242C	IGF2R	NM_000876.3(IGF2R):c.6456T>C:p.Asp2152=	coding	Benign
6	160096440	C	T	C160096440T	IGF2R	NM_000876.3(IGF2R):c.6657C>T:p.Asp2219=	coding	Benign
6	160130185	G	T	G160130185T	SLC22A1	NM_003057.3(SLC22A1):c.493G>T:p.Gly165Cys	coding	Benign
6	160132274	C	T	C160132274T	SLC22A1	NM_003057.3(SLC22A1):c.558C>T:p.Asn186=	coding	Benign
6	160143584	G	A	G160143584A	SLC22A1	NM_003057.3(SLC22A1):c.1320G>A:p.Met440Ile	coding	Benign
6	160154804	C	T	C160154804T	SLC22A1	NM_003057.3(SLC22A1):c.1392C>T:p.Leu464=	coding	Benign
6	160158564	A	C	A160158564C	SLC22A1	NM_003057.3(SLC22A1):c.1647A>C:p.Ser549=	coding	Benign
6	160224731	G	T	G160224731T	SLC22A2	NM_003058.4(SLC22A2):c.1575C>A:p.Thr525=	coding	Benign
6	160540105	T	C	T160540105C	LPA	NM_005577.4(LPA):c.5673A>G:p.Ile1891Met	coding	Benign
6	160548661	T	C	T160548661C	LPA	NM_005577.4(LPA):c.4974-2A>G	noncoding	Benign
6	160585045	C	T	C160585045T	LPA	NM_005577.3(LPA):c.4289+1G>A	noncoding	Benign
6	160650438	G	A	G160650438A	LPA	NM_005577.3(LPA):c.109C>T:p.Arg37Ter	coding	Pathogenic
6	160706469	A	G	A160706469G	PLG	NM_001168338.1(PLG):c.112A>G:p.Lys38Glu	coding	Pathogenic/Likely_pathogenic
6	160706526	G	A	G160706526A	PLG	NM_001168338.1(PLG):c.169G>A:p.Glu57Lys	coding	Benign
6	160706543	G	T	G160706543T	PLG	NM_001168338.1(PLG):c.185+1G>T	coding	Pathogenic
6	160706546	T	C	T160706546C	PLG	NM_001168338.1(PLG):c.185+4T>C	noncoding	Benign
6	160707780	G	A	G160707780A	PLG	NM_001168338.1(PLG):c.266G>A:p.Arg89Lys	coding	Benign
6	160713037	G	A	G160713037A	PLG	NM_000301.4(PLG):c.459G>A:p.Arg153=	coding	Benign
6	160714827	A	T	A160714827T	PLG	NM_000301.4(PLG):c.581A>T:p.Asp194Val	coding	Benign
6	160714828	C	T	C160714828T	PLG	NM_000301.4(PLG):c.582C>T:p.Asp194=	coding	Benign
6	160716680	G	A	G160716680A	PLG	NM_000301.3(PLG):c.704G>A:p.Arg235His	coding	Pathogenic
6	160716758	G	A	G160716758A	PLG	NM_000301.3(PLG):c.782G>A:p.Arg261His	coding	Benign
6	160718392	T	G	T160718392G	PLG	NM_000301.5(PLG):c.886T>G:p.Cys296Gly	coding	Pathogenic
6	160718466	C	T	C160718466T	PLG	NM_000301.4(PLG):c.950+10C>T	noncoding	Benign
6	160718730	A	G	A160718730G	PLG	NM_000301.3(PLG):c.988A>G:p.Lys330Glu	coding	Pathogenic
6	160722431	G	T	G160722431T	PLG	NM_000301.3(PLG):c.1120G>T:p.Val374Phe	coding	Pathogenic
6	160722533	C	T	C160722533T	PLG	NM_000301.4(PLG):c.1222C>T:p.Arg408Trp	coding	Benign
6	160731053	G	A	G160731053A	PLG	NM_000301.4(PLG):c.1259G>A:p.Gly420Asp	coding	Benign
6	160731075	G	A	G160731075A	PLG	NM_000301.4(PLG):c.1281G>A:p.Arg427=	coding	Benign
6	160731174	T	A	T160731174A	PLG	NM_000301.4(PLG):c.1380T>A:p.Ser460Arg	coding	Benign
6	160731208	G	A	G160731208A	PLG	NM_000301.3(PLG):c.1414G>A:p.Asp472Asn	coding	Benign
6	160731225	C	T	C160731225T	PLG	NM_000301.4(PLG):c.1431C>T:p.Ser477=	coding	Benign
6	160731229	G	T	G160731229T	PLG	NM_000301.3(PLG):c.1435G>T:p.Glu479Ter	coding	Pathogenic
6	160731787	C	T	C160731787T	PLG	NM_000301.3(PLG):c.1481C>T:p.Ala494Val	coding	Benign
6	160731873	C	T	C160731873T	PLG	NM_000301.4(PLG):c.1567C>T:p.Arg523Trp	coding	Benign
6	160733992	C	T	C160733992T	PLG	NM_000301.4(PLG):c.1588-3C>T	noncoding	Benign
6	160736976	T	C	T160736976C	PLG	NM_000301.3(PLG):c.1771T>C:p.Ser591Pro	coding	Pathogenic
6	160738583	G	A	G160738583A	PLG	NM_000301.3(PLG):c.1848G>A:p.Trp616Ter	coding	Pathogenic
6	160738587	T	C	T160738587C	PLG	NM_000301.4(PLG):c.1852T>C:p.Leu618=	coding	Benign
6	160739062	T	C	T160739062C	PLG	NM_000301.4(PLG):c.1878-6T>C	noncoding	Benign
6	160752240	G	A	G160752240A	PLG	NM_000301.3(PLG):c.2251G>A:p.Gly751Arg	coding	Pathogenic
6	160752248	T	C	T160752248C	PLG	NM_000301.4(PLG):c.2259T>C:p.Thr753=	coding	Benign
6	161091414	T	A	T161091414A	MAP3K4	NM_005922.4(MAP3K4):c.3009T>A:p.Asn1003Lys	coding	Benign
6	161108866	C	T	C161108866T	MAP3K4	NM_005922.4(MAP3K4):c.4236+7C>T	noncoding	Benign
6	161347607	T	C	T161347607C	PRKN	NM_004562.3(PRKN):c.*2492A>G	noncoding	Benign
6	161347619	G	T	G161347619T	PRKN	NM_004562.3(PRKN):c.*2480C>A	noncoding	Benign
6	161348078	C	T	C161348078T	PRKN	NM_004562.3(PRKN):c.*2021G>A	noncoding	Benign
6	161348803	T	C	T161348803C	PRKN	NM_004562.3(PRKN):c.*1296A>G	noncoding	Benign
6	161349279	T	A	T161349279A	PRKN	NM_004562.3(PRKN):c.*820A>T	noncoding	Benign
6	161349447	G	A	G161349447A	PRKN	NM_004562.3(PRKN):c.*652C>T	noncoding	Benign
6	161349779	G	T	G161349779T	PRKN	NM_004562.3(PRKN):c.*320C>A	noncoding	Benign
6	161350176	A	G	A161350176G	PRKN	NM_004562.3(PRKN):c.1321T>C:p.Cys441Arg	coding	Pathogenic
6	161350205	C	A	C161350205A	PRKN	NM_004562.3(PRKN):c.1292G>T:p.Cys431Phe	coding	Pathogenic
6	161350208	C	T	C161350208T	PRKN	NM_004562.3(PRKN):c.1289G>A:p.Gly430Asp	coding	Pathogenic/Likely_pathogenic
6	161360193	C	T	C161360193T	PRKN	NM_004562.3(PRKN):c.1180G>A:p.Asp394Asn	coding	Benign
6	161386823	C	G	C161386823G	PRKN	NM_004562.3(PRKN):c.1138G>C:p.Val380Leu	coding	Benign
6	161386865	G	A	G161386865A	PRKN	NM_004562.3(PRKN):c.1096C>T:p.Arg366Trp	coding	Benign/Likely_benign
6	161548920	C	T	C161548920T	PRKN	NM_004562.3(PRKN):c.1017G>A:p.Ala339=	coding	Benign
6	161548980	A	G	A161548980G	PRKN	NM_004562.3(PRKN):c.957T>C:p.Gly319=	coding	Benign
6	161569357	G	A	G161569357A	PRKN	NM_004562.3(PRKN):c.931C>T:p.Gln311Ter	coding	Pathogenic
6	161785793	C	G	C161785793G	PRKN	NM_004562.3(PRKN):c.850G>C:p.Gly284Arg	coding	Pathogenic
6	161785820	G	A	G161785820A	PRKN	NM_004562.3(PRKN):c.823C>T:p.Arg275Trp	coding	Pathogenic
6	161785827	G	A	G161785827A	PRKN	NM_004562.3(PRKN):c.816C>T:p.Leu272=	coding	Benign
6	161785839	A	T	A161785839T	PRKN	NM_004562.3(PRKN):c.804T>A:p.Cys268Ter	coding	Pathogenic
6	161785860	T	C	T161785860C	PRKN	NM_004562.3(PRKN):c.783A>G:p.Leu261=	coding	Benign/Likely_benign
6	161785885	C	T	C161785885T	PRKN	NM_004562.3(PRKN):c.758G>A:p.Cys253Tyr	coding	Pathogenic
6	161973317	G	C	G161973317C	PRKN	NM_004562.3(PRKN):c.719C>G:p.Thr240Arg	coding	Pathogenic
6	161973322	G	A	G161973322A	PRKN	NM_004562.3(PRKN):c.714C>T:p.Cys238=	coding	Benign
6	161973401	C	T	C161973401T	PRKN	NM_004562.3(PRKN):c.635G>A:p.Cys212Tyr	coding	Pathogenic
6	161973403	T	A	T161973403A	PRKN	NM_004562.3(PRKN):c.633A>T:p.Lys211Asn	coding	Pathogenic
6	162054135	T	G	T162054135G	PRKN	NM_004562.3(PRKN):c.574A>C:p.Met192Leu	coding	Benign
6	162054149	A	C	A162054149C	PRKN	NM_004562.3(PRKN):c.560T>G:p.Leu187Ter	coding	Pathogenic
6	162201165	C	T	C162201165T	PRKN	NM_004562.3(PRKN):c.500G>A:p.Ser167Asn	coding	Benign
6	162201182	T	A	T162201182A	PRKN	NM_004562.3(PRKN):c.483A>T:p.Lys161Asn	coding	Pathogenic
6	162201207	G	C	G162201207C	PRKN	NM_004562.3(PRKN):c.458C>G:p.Pro153Arg	coding	Benign/Likely_benign
6	162201272	A	G	A162201272G	PRKN	NM_004562.3(PRKN):c.413-20T>C	noncoding	Benign
6	162443345	C	T	C162443345T	PRKN	NM_004562.3(PRKN):c.136G>A:p.Ala46Thr	coding	Benign
6	162443356	C	G	C162443356G	PRKN	NM_004562.3(PRKN):c.125G>C:p.Arg42Pro	coding	Pathogenic
6	162443370	C	T	C162443370T	PRKN	NM_004562.3(PRKN):c.111G>A:p.Pro37=	coding	Benign
6	162443380	T	C	T162443380C	PRKN	NM_004562.3(PRKN):c.101A>G:p.Gln34Arg	coding	Benign/Likely_benign
6	162443383	C	T	C162443383T	PRKN	NM_004562.3(PRKN):c.98G>A:p.Arg33Gln	coding	Pathogenic
6	162443384	G	A	G162443384A	PRKN	NM_004562.3(PRKN):c.97C>T:p.Arg33Ter	coding	Pathogenic
6	162727661	C	A	C162727661A	PRKN	NM_004562.3(PRKN):c.7+1G>T	noncoding	Pathogenic
6	162727667	A	G	A162727667G	PRKN	NM_004562.3(PRKN):c.2T>C:p.Met1Thr	coding	Pathogenic
6	162728307	G	A	G162728307A	PACRG	NM_152410.2(PACRG):c.72G>A:p.Leu24=	coding	Benign
6	163314821	C	A	C163314821A	PACRG	NM_152410.2(PACRG):c.731-6C>A	noncoding	Benign
6	163314984	C	T	C163314984T	PACRG	NM_152410.2(PACRG):c.888C>T:p.Asn296=	coding	Benign
6	165336155	G	C	G165336155C	PDE10A	NM_001130690.3(PDE10A):c.2235C>G:p.Leu745=	coding	Benign
6	165336206	C	T	C165336206T	PDE10A	NM_001130690.3(PDE10A):c.2184G>A:p.Gly728=	coding	Benign
6	165339268	T	C	T165339268C	PDE10A	NM_001130690.3(PDE10A):c.2178+10A>G	noncoding	Benign
6	165379220	T	C	T165379220C	PDE10A	NM_001130690.3(PDE10A):c.1959A>G:p.Ser653=	coding	Benign
6	165388333	G	A	G165388333A	PDE10A	NM_001130690.3(PDE10A):c.1777C>T:p.Gln593Ter	coding	Pathogenic
6	165395195	G	T	G165395195T	PDE10A	NM_001130690.3(PDE10A):c.1491C>A:p.Ser497=	coding	Benign
6	165396451	A	G	A165396451G	PDE10A	NM_001130690.3(PDE10A):c.1287T>C:p.His429=	coding	Benign
6	165416279	A	C	A165416279C	PDE10A	NM_001130690.2(PDE10A):c.1001T>G:p.Phe334Cys	coding	Pathogenic/Likely_pathogenic
6	165416280	A	G	A165416280G	PDE10A	NM_006661.4(PDE10A):c.970T>C:p.Phe324Leu	coding	Pathogenic
6	165418735	A	G	A165418735G	PDE10A	NM_006661.4(PDE10A):c.868T>C:p.Phe290Leu	coding	Pathogenic
6	165430298	G	C	G165430298C	PDE10A	NM_001130690.3(PDE10A):c.792C>G:p.Leu264=	coding	Benign
6	165450242	C	G	C165450242G	PDE10A	NM_006661.4(PDE10A):c.316G>C:p.Ala106Pro	coding	Pathogenic
6	165450268	T	C	T165450268C	PDE10A	NM_006661.4(PDE10A):c.290A>G:p.Tyr97Cys	coding	Pathogenic/Likely_pathogenic
6	165543471	T	C	T165543471C	PDE10A	NM_001130690.3(PDE10A):c.165A>G:p.Lys55=	coding	Benign
6	165543498	T	C	T165543498C	PDE10A	NM_001130690.3(PDE10A):c.138A>G:p.Glu46=	coding	Benign
6	166158524	C	T	C166158524T	TBXT	NM_003181.3(TBXT):c.1099G>A:p.Val367Met	coding	Benign
6	166160974	G	A	G166160974A	TBXT	NM_003181.3(TBXT):c.905-8C>T	noncoding	Benign
6	166165800	T	C	T166165800C	TBXT	NM_003181.3(TBXT):c.512A>G:p.His171Arg	coding	Pathogenic
6	166365976	G	A	G166365976A	MPC1	NM_016098.4(MPC1):c.303C>T:p.His101=	coding	Benign
6	166365990	G	A	G166365990A	MPC1	NM_016098.4(MPC1):c.289C>T:p.Arg97Trp	coding	Pathogenic
6	166366043	A	T	A166366043T	MPC1	NM_016098.4(MPC1):c.236T>A:p.Leu79His	coding	Pathogenic
6	166366861	G	T	G166366861T	MPC1	NM_016098.4(MPC1):c.106C>A:p.Leu36Ile	coding	Benign
6	166382847	C	T	C166382847T	MPC1	NM_016098.4(MPC1):c.30G>A:p.Ala10=	coding	Benign/Likely_benign
6	166383177	C	T	C166383177T	MPC1	NC_000006.12:g.166383177C>T	noncoding	Benign
6	166383232	T	C	T166383232C	MPC1	NC_000006.12:g.166383232T>C	noncoding	Benign
6	166383344	C	G	C166383344G	MPC1	NC_000006.12:g.166383344C>G	noncoding	Benign
6	166412777	C	G	C166412777G	RPS6KA2	NM_021135.6(RPS6KA2):c.2187G>C:p.Thr729=	coding	Benign
6	166423304	G	A	G166423304A	RPS6KA2	NM_021135.6(RPS6KA2):c.1695C>T:p.Asn565=	coding	Benign
6	166929653	G	A	G166929653A	RNASET2	NM_003730.6(RNASET2):c.706C>T:p.Arg236Trp	coding	Benign
6	166929662	C	T	C166929662T	RNASET2	NM_003730.6(RNASET2):c.697G>A:p.Ala233Thr	coding	Benign
6	166929663	G	A	G166929663A	RNASET2	NM_003730.6(RNASET2):c.696C>T:p.Ala232=	coding	Benign/Likely_benign
6	166929711	C	T	C166929711T	RNASET2	NM_003730.6(RNASET2):c.648G>A:p.Pro216=	coding	Benign
6	166929716	C	T	C166929716T	RNASET2	NM_003730.6(RNASET2):c.643G>A:p.Glu215Lys	coding	Benign/Likely_benign
6	166931061	A	G	A166931061G	RNASET2	NM_003730.6(RNASET2):c.550T>C:p.Cys184Arg	coding	Pathogenic
6	166931095	A	G	A166931095G	RNASET2	NM_003730.6(RNASET2):c.516T>C:p.Leu172=	coding	Benign
6	166938915	G	A	G166938915A	RNASET2	NM_003730.6(RNASET2):c.426C>T:p.Tyr142=	coding	Benign
6	166946729	T	C	T166946729C	RNASET2	NM_003730.6(RNASET2):c.214A>G:p.Ser72Gly	coding	Benign
6	166952485	C	T	C166952485T	RNASET2	NM_003730.6(RNASET2):c.147+3G>A	noncoding	Benign
6	166956409	C	A	C166956409A	RNASET2	NM_003730.6(RNASET2):c.-227G>T	noncoding	Benign
6	166956503	C	A	C166956503A	RNASET2	NM_003730.6(RNASET2):c.-321G>T	noncoding	Benign
6	166956504	A	G	A166956504G	RNASET2	NM_003730.6(RNASET2):c.-322T>C	noncoding	Benign
6	167024804	G	C	G167024804C	CEP43	NM_007045.4(CEP43):c.829G>C:p.Ala277Pro	coding	Benign
6	167136707	A	G	A167136707G	CCR6	NM_031409.3(CCR6):c.477A>G:p.Arg159=	coding	Benign
6	167137336	C	T	C167137336T	CCR6	NM_031409.3(CCR6):c.1106C>T:p.Ala369Val	coding	Benign
6	167303952	C	T	C167303952T	UNC93A	NM_018974.4(UNC93A):c.659C>T:p.Ala220Val	coding	Benign
6	167305996	G	A	G167305996A	UNC93A	NM_018974.4(UNC93A):c.922G>A:p.Val308Met	coding	Benign
6	167307780	C	T	C167307780T	UNC93A	NM_018974.4(UNC93A):c.978C>T:p.Gly326=	coding	Benign
6	167315286	T	C	T167315286C	UNC93A	NM_018974.4(UNC93A):c.1208T>C:p.Met403Thr	coding	Benign
6	167315287	G	A	G167315287A	UNC93A	NM_018974.4(UNC93A):c.1209G>A:p.Met403Ile	coding	Benign
6	167340505	T	C	T167340505C	TTLL2	NM_031949.5(TTLL2):c.605T>C:p.Leu202Pro	coding	Benign
6	167341575	G	A	G167341575A	TTLL2	NM_031949.5(TTLL2):c.1675G>A:p.Val559Ile	coding	Benign
6	167376565	C	T	C167376565T	-	NR_163193.1(TCP10):n.623G>A	coding	Benign
6	167376622	C	T	C167376622T	-	NR_163193.1(TCP10):n.566G>A	coding	Benign
6	167948301	G	A	G167948301A	AFDN	NM_001207008.1(AFDN):c.3582G>A:p.Thr1194=	coding	Benign
6	168030801	G	A	G168030801A	KIF25	NM_030615.2(KIF25):c.121G>A:p.Ala41Thr	coding	Benign
6	168042635	G	A	G168042635A	KIF25	NM_030615.2(KIF25):c.904G>A:p.Val302Ile	coding	Benign
6	168042723	G	A	G168042723A	KIF25	NM_030615.2(KIF25):c.985+7G>A	noncoding	Benign
6	168060954	G	T	G168060954T	FRMD1	NM_024919.5(FRMD1):c.1149C>A:p.His383Gln	coding	Benign
6	168066749	C	T	C168066749T	FRMD1	NM_024919.5(FRMD1):c.461+6G>A	noncoding	Benign
6	168066768	C	T	C168066768T	FRMD1	NM_024919.5(FRMD1):c.448G>A:p.Gly150Arg	coding	Benign
6	168075294	G	T	G168075294T	FRMD1	NM_024919.5(FRMD1):c.255C>A:p.Asn85Lys	coding	Benign
6	168307636	G	A	G168307636A	DACT2	NM_214462.5(DACT2):c.2121C>T:p.Gly707=	coding	Benign
6	168441455	G	T	G168441455T	SMOC2	NM_001166412.2(SMOC2):c.84+1G>T	coding	Pathogenic
6	168598828	T	A	T168598828A	SMOC2	NM_022138.3(SMOC2):c.681T>A:p.Cys227Ter	coding	Pathogenic
6	168650739	G	A	G168650739A	SMOC2	NM_001166412.2(SMOC2):c.966G>A:p.Thr322=	coding	Benign
6	168653035	T	C	T168653035C	SMOC2	NM_001166412.2(SMOC2):c.1092T>C:p.Ser364=	coding	Benign
6	168653098	C	T	C168653098T	SMOC2	NM_001166412.2(SMOC2):c.1155C>T:p.Pro385=	coding	Benign
6	168664103	A	G	A168664103G	SMOC2	NM_001166412.2(SMOC2):c.1315A>G:p.Asn439Asp	coding	Benign
6	169220268	G	A	G169220268A	THBS2	NM_003247.4(THBS2):c.3441C>T:p.Gly1147=	coding	Benign
6	169221447	G	C	G169221447C	THBS2	NM_003247.4(THBS2):c.3354C>G:p.Pro1118=	coding	Benign
6	169221505	G	A	G169221505A	THBS2	NM_003247.4(THBS2):c.3296C>T:p.Pro1099Leu	coding	Benign
6	169222230	G	A	G169222230A	THBS2	NM_003247.4(THBS2):c.3240C>T:p.Asn1080=	coding	Benign
6	169222254	C	T	C169222254T	THBS2	NM_003247.4(THBS2):c.3216G>A:p.Thr1072=	coding	Benign
6	169223255	G	A	G169223255A	THBS2	NM_003247.4(THBS2):c.2994C>T:p.Ile998=	coding	Benign
6	169225212	G	A	G169225212A	THBS2	NM_003247.4(THBS2):c.2706C>T:p.Asn902=	coding	Benign
6	169229629	G	A	G169229629A	THBS2	NM_003247.4(THBS2):c.2202C>T:p.Asp734=	coding	Benign
6	169232122	T	A	T169232122A	THBS2	NM_003247.4(THBS2):c.2009A>T:p.His670Leu	coding	Benign
6	169232998	G	C	G169232998C	THBS2	NM_003247.4(THBS2):c.1671C>G:p.Pro557=	coding	Benign
6	169239651	G	T	G169239651T	THBS2	NM_003247.4(THBS2):c.1077C>A:p.Thr359=	coding	Benign
6	169246187	A	T	A169246187T	THBS2	NM_003247.4(THBS2):c.694+10T>A	noncoding	Benign
6	169248507	G	A	G169248507A	THBS2	NM_003247.4(THBS2):c.519C>T:p.Phe173=	coding	Benign
6	169248628	G	C	G169248628C	THBS2	NM_003247.4(THBS2):c.398C>G:p.Thr133Ser	coding	Benign
6	169248665	C	T	C169248665T	THBS2	NM_003247.4(THBS2):c.361G>A:p.Ala121Thr	coding	Benign
6	169705629	T	C	T169705629C	PHF10	NM_018288.4(PHF10):c.1209A>G:p.Gln403=	coding	Benign
6	169751662	A	T	A169751662T	ERMARD	NM_018341.3(ERMARD):c.5A>T:p.Glu2Val	coding	Benign
6	169751670	C	T	C169751670T	ERMARD	NM_018341.3(ERMARD):c.6+7C>T	noncoding	Benign
6	169753866	A	C	A169753866C	ERMARD	NM_018341.3(ERMARD):c.9A>C:p.Val3=	coding	Benign
6	169755348	C	T	C169755348T	ERMARD	NM_018341.3(ERMARD):c.241C>T:p.His81Tyr	coding	Benign
6	169755364	C	A	C169755364A	ERMARD	NM_018341.3(ERMARD):c.257C>A:p.Thr86Asn	coding	Benign
6	169755381	A	G	A169755381G	ERMARD	NM_018341.3(ERMARD):c.274A>G:p.Ile92Val	coding	Benign
6	169760687	A	G	A169760687G	ERMARD	NM_018341.3(ERMARD):c.788A>G:p.Lys263Arg	coding	Benign
6	169760718	A	G	A169760718G	ERMARD	NM_018341.3(ERMARD):c.819A>G:p.Pro273=	coding	Benign
6	169760745	C	T	C169760745T	ERMARD	NM_018341.3(ERMARD):c.846C>T:p.Phe282=	coding	Benign
6	169762418	C	T	C169762418T	ERMARD	NM_018341.3(ERMARD):c.858-11C>T	noncoding	Benign
6	169762419	A	C	A169762419C	ERMARD	NM_018341.3(ERMARD):c.858-10A>C	noncoding	Benign
6	169762441	C	T	C169762441T	ERMARD	NM_018341.3(ERMARD):c.870C>T:p.Cys290=	coding	Benign
6	169768126	T	C	T169768126C	ERMARD	NM_018341.3(ERMARD):c.1014T>C:p.Asp338=	coding	Benign
6	169769528	A	G	A169769528G	ERMARD	NM_018341.3(ERMARD):c.1060-12A>G	noncoding	Benign
6	169769592	A	G	A169769592G	ERMARD	NM_018341.3(ERMARD):c.1112A>G:p.His371Arg	coding	Benign
6	169769610	T	A	T169769610A	ERMARD	NM_018341.3(ERMARD):c.1130T>A:p.Ile377Asn	coding	Pathogenic
6	169769723	A	G	A169769723G	ERMARD	NM_018341.3(ERMARD):c.1233+10A>G	noncoding	Benign
6	169773059	A	G	A169773059G	ERMARD	NM_018341.3(ERMARD):c.1234-260A>G	noncoding	Benign
6	169775281	T	C	T169775281C	ERMARD	NM_018341.3(ERMARD):c.1329T>C:p.Cys443=	coding	Benign/Likely_benign
6	169776050	G	A	G169776050A	ERMARD	NM_018341.3(ERMARD):c.1505G>A:p.Arg502His	coding	Benign
6	169776523	T	C	T169776523C	ERMARD	NM_018341.3(ERMARD):c.1589T>C:p.Leu530Pro	coding	Benign
6	169776551	C	T	C169776551T	ERMARD	NM_018341.3(ERMARD):c.1617C>T:p.Ile539=	coding	Benign
6	169776552	A	G	A169776552G	ERMARD	NM_018341.3(ERMARD):c.1618A>G:p.Ser540Gly	coding	Benign
6	169776629	G	A	G169776629A	ERMARD	NM_018341.3(ERMARD):c.1695G>A:p.Thr565=	coding	Benign/Likely_benign
6	169776691	T	C	T169776691C	ERMARD	NM_018341.3(ERMARD):c.1739+18T>C	noncoding	Benign
6	169781375	C	T	C169781375T	ERMARD	NM_018341.3(ERMARD):c.1899C>T:p.Tyr633=	coding	Benign/Likely_benign
6	169781420	A	G	A169781420G	ERMARD	NM_018341.3(ERMARD):c.1944A>G:p.Thr648=	coding	Benign
6	170283021	G	A	G170283021A	DLL1	NM_005618.4(DLL1):c.2133C>T:p.Ser711=	coding	Benign
6	170283078	C	T	C170283078T	DLL1	NM_005618.4(DLL1):c.2076G>A:p.Pro692=	coding	Benign
6	170283446	C	T	C170283446T	DLL1	NM_005618.4(DLL1):c.1833G>A:p.Gln611=	coding	Benign
6	170283629	G	A	G170283629A	DLL1	NM_005618.4(DLL1):c.1650C>T:p.Ala550=	coding	Benign
6	170283715	C	T	C170283715T	DLL1	NM_005618.4(DLL1):c.1564G>A:p.Glu522Lys	coding	Benign
6	170283716	G	A	G170283716A	DLL1	NM_005618.4(DLL1):c.1563C>T:p.Pro521=	coding	Benign
6	170283754	G	A	G170283754A	DLL1	NM_005618.4(DLL1):c.1525C>T:p.Arg509Ter	coding	Pathogenic
6	170283761	C	T	C170283761T	DLL1	NM_005618.4(DLL1):c.1518G>A:p.Glu506=	coding	Benign
6	170283787	C	A	C170283787A	DLL1	NM_005618.4(DLL1):c.1492G>T:p.Glu498Ter	coding	Pathogenic
6	170283836	G	A	G170283836A	DLL1	NM_005618.4(DLL1):c.1443C>T:p.Pro481=	coding	Benign
6	170283927	G	A	G170283927A	DLL1	NM_005618.4(DLL1):c.1352C>T:p.Pro451Leu	coding	Benign
6	170283949	C	T	C170283949T	DLL1	NM_005618.4(DLL1):c.1330G>A:p.Val444Met	coding	Benign
6	170284038	C	G	C170284038G	DLL1	NM_005618.4(DLL1):c.1250-9G>C	noncoding	Benign
6	170284974	G	A	G170284974A	DLL1	NM_005618.4(DLL1):c.1194C>T:p.Ser398=	coding	Benign
6	170285037	G	A	G170285037A	DLL1	NM_005618.4(DLL1):c.1131C>T:p.Asn377=	coding	Benign
6	170285269	G	A	G170285269A	DLL1	NM_005618.4(DLL1):c.1017C>T:p.Asn339=	coding	Benign
6	170285618	G	A	G170285618A	DLL1	NM_005618.4(DLL1):c.813C>T:p.Pro271=	coding	Benign
6	170286229	C	G	C170286229G	DLL1	NM_005618.4(DLL1):c.731+9G>C	noncoding	Benign
6	170289632	G	T	G170289632T	DLL1	NM_005618.4(DLL1):c.231C>A:p.Cys77Ter	coding	Pathogenic
6	170290085	C	T	C170290085T	DLL1	NM_005618.4(DLL1):c.54+1G>A	noncoding	Pathogenic
6	170584366	C	T	C170584366T	PDCD2	NM_002598.4(PDCD2):c.216G>A:p.Pro72=	coding	Benign
6	170584376	G	C	G170584376C	PDCD2	NM_002598.4(PDCD2):c.206C>G:p.Pro69Arg	coding	Benign
7	193245	G	T	G193245T	FAM20C	NM_020223.4(FAM20C):c.46G>T:p.Val16Leu	coding	Benign
7	195594	G	A	G195594A	FAM20C	NM_020223.4(FAM20C):c.646G>A:p.Gly216Arg	coding	Benign
7	195685	T	A	T195685A	FAM20C	NM_020223.4(FAM20C):c.737T>A:p.Ile246Asn	coding	Pathogenic
7	208909	G	A	G208909A	FAM20C	NM_020223.4(FAM20C):c.796G>A:p.Gly266Arg	coding	Pathogenic
7	246436	A	G	A246436G	FAM20C	NM_020223.4(FAM20C):c.885A>G:p.Thr295=	coding	Benign
7	246512	G	C	G246512C	FAM20C	NM_020223.4(FAM20C):c.956+5G>C	noncoding	Pathogenic
7	248312	C	G	C248312G	FAM20C	NM_020223.4(FAM20C):c.957-3C>G	noncoding	Pathogenic
7	248340	C	T	C248340T	FAM20C	NM_020223.4(FAM20C):c.982C>T:p.Pro328Ser	coding	Pathogenic
7	248384	C	T	C248384T	FAM20C	NM_020223.4(FAM20C):c.1026C>T:p.Asp342=	coding	Benign
7	255853	C	T	C255853T	FAM20C	NM_020223.4(FAM20C):c.1077C>T:p.Asn359=	coding	Benign
7	255868	C	T	C255868T	FAM20C	NM_020223.4(FAM20C):c.1092C>T:p.Tyr364=	coding	Benign
7	255869	G	C	G255869C	FAM20C	NM_020223.4(FAM20C):c.1093G>C:p.Gly365Arg	coding	Pathogenic
7	255912	G	A	G255912A	FAM20C	NM_020223.4(FAM20C):c.1136G>A:p.Gly379Glu	coding	Pathogenic
7	255939	T	G	T255939G	FAM20C	NM_020223.4(FAM20C):c.1163T>G:p.Leu388Arg	coding	Pathogenic
7	255994	T	A	T255994A	FAM20C	NM_020223.4(FAM20C):c.1218T>A:p.Pro406=	coding	Benign
7	256004	T	A	T256004A	FAM20C	NM_020223.4(FAM20C):c.1228T>A:p.Ser410Thr	coding	Benign/Likely_benign
7	256750	C	T	C256750T	FAM20C	NM_020223.4(FAM20C):c.1350C>T:p.Phe450=	coding	Benign
7	257003	A	G	A257003G	FAM20C	NM_020223.4(FAM20C):c.1364-2A>G	noncoding	Pathogenic
7	258645	G	A	G258645A	FAM20C	NM_020223.4(FAM20C):c.1446-1G>A	noncoding	Pathogenic
7	259870	C	T	C259870T	FAM20C	NM_020223.4(FAM20C):c.1645C>T:p.Arg549Trp	coding	Pathogenic
7	259877	G	A	G259877A	FAM20C	NM_020223.4(FAM20C):c.1652G>A:p.Arg551His	coding	Benign
7	259884	G	T	G259884T	FAM20C	NM_020223.4(FAM20C):c.1659G>T:p.Val553=	coding	Benign
7	259897	C	T	C259897T	FAM20C	NM_020223.4(FAM20C):c.1672C>T:p.Arg558Trp	coding	Benign
7	259906	G	A	G259906A	FAM20C	NM_020223.4(FAM20C):c.1681G>A:p.Val561Met	coding	Benign/Likely_benign
7	259915	A	G	A259915G	FAM20C	NM_020223.4(FAM20C):c.1690A>G:p.Asn564Asp	coding	Benign
7	501186	C	T	C501186T	PDGFA	NM_002607.5(PDGFA):c.510G>A:p.Arg170=	coding	Benign
7	550559	G	A	G550559A	PRKAR1B	NM_001164760.2(PRKAR1B):c.1017C>T:p.Val339=	coding	Benign
7	550568	C	T	C550568T	PRKAR1B	NM_001164760.2(PRKAR1B):c.1008G>A:p.Ala336=	coding	Benign
7	551426	G	A	G551426A	PRKAR1B	NM_001164760.2(PRKAR1B):c.936C>T:p.Tyr312=	coding	Benign
7	551429	C	T	C551429T	PRKAR1B	NM_001164760.2(PRKAR1B):c.933G>A:p.Glu311=	coding	Benign
7	551459	G	A	G551459A	PRKAR1B	NM_001164760.2(PRKAR1B):c.903C>T:p.Ser301=	coding	Benign
7	551465	G	A	G551465A	PRKAR1B	NM_001164760.2(PRKAR1B):c.897C>T:p.Thr299=	coding	Benign
7	579337	C	T	C579337T	PRKAR1B	NM_001164760.2(PRKAR1B):c.810G>A:p.Ala270=	coding	Benign
7	584574	C	T	C584574T	PRKAR1B	NM_001164760.2(PRKAR1B):c.709-6G>A	noncoding	Benign
7	596197	C	T	C596197T	PRKAR1B	NM_001164760.2(PRKAR1B):c.657G>A:p.Thr219=	coding	Benign
7	596212	G	A	G596212A	PRKAR1B	NM_001164760.2(PRKAR1B):c.642C>T:p.Thr214=	coding	Benign
7	680646	G	T	G680646T	PRKAR1B	NM_001164760.2(PRKAR1B):c.258C>A:p.Pro86=	coding	Benign
7	680729	G	A	G680729A	PRKAR1B	NM_001164760.2(PRKAR1B):c.178-3C>T	noncoding	Benign
7	711388	T	C	T711388C	PRKAR1B	NM_001164760.2(PRKAR1B):c.118A>G:p.Ile40Val	coding	Benign
7	726792	G	A	G726792A	DNAAF5	NM_017802.4(DNAAF5):c.72G>A:p.Ala24=	coding	Benign
7	726928	C	T	C726928T	DNAAF5	NM_017802.4(DNAAF5):c.208C>T:p.Gln70Ter	coding	Pathogenic
7	729778	T	C	T729778C	DNAAF5	NM_017802.4(DNAAF5):c.711T>C:p.Phe237=	coding	Benign
7	729784	C	T	C729784T	DNAAF5	NM_017802.4(DNAAF5):c.717C>T:p.Asn239=	coding	Benign
7	740926	C	T	C740926T	DNAAF5	NM_017802.4(DNAAF5):c.888C>T:p.Asp296=	coding	Benign
7	741343	T	G	T741343G	DNAAF5	NM_017802.4(DNAAF5):c.906-4T>G	noncoding	Benign
7	741362	C	A	C741362A	DNAAF5	NM_017802.4(DNAAF5):c.921C>A:p.Ser307Arg	coding	Benign
7	741367	G	A	G741367A	DNAAF5	NM_017802.4(DNAAF5):c.926G>A:p.Trp309Ter	coding	Pathogenic
7	741389	G	A	G741389A	DNAAF5	NM_017802.4(DNAAF5):c.948G>A:p.Trp316Ter	coding	Pathogenic
7	741476	G	T	G741476T	DNAAF5	NM_017802.4(DNAAF5):c.1024+11G>T	noncoding	Benign/Likely_benign
7	754620	C	T	C754620T	DNAAF5	NM_017802.4(DNAAF5):c.1056C>T:p.Leu352=	coding	Benign
7	754809	C	T	C754809T	DNAAF5	NM_017802.4(DNAAF5):c.1245C>T:p.Ala415=	coding	Benign/Likely_benign
7	754834	A	G	A754834G	DNAAF5	NM_017802.4(DNAAF5):c.1257+13A>G	noncoding	Benign
7	756793	C	T	C756793T	DNAAF5	NM_017802.4(DNAAF5):c.1269C>T:p.Ser423=	coding	Benign
7	756794	G	A	G756794A	DNAAF5	NM_017802.4(DNAAF5):c.1270G>A:p.Ala424Thr	coding	Benign/Likely_benign
7	756843	T	G	T756843G	DNAAF5	NM_017802.4(DNAAF5):c.1319T>G:p.Ile440Ser	coding	Benign
7	756895	C	T	C756895T	DNAAF5	NM_017802.4(DNAAF5):c.1371C>T:p.Ala457=	coding	Benign
7	756918	G	A	G756918A	DNAAF5	NM_017802.4(DNAAF5):c.1394G>A:p.Arg465Gln	coding	Benign
7	761740	C	T	C761740T	DNAAF5	NM_017802.4(DNAAF5):c.1471-13C>T	noncoding	Benign
7	763869	C	T	C763869T	DNAAF5	NM_017802.4(DNAAF5):c.1678C>T:p.Arg560Cys	coding	Benign/Likely_benign
7	763880	T	C	T763880C	DNAAF5	NM_017802.4(DNAAF5):c.1689T>C:p.Ile563=	coding	Benign/Likely_benign
7	763898	G	T	G763898T	DNAAF5	NM_017802.4(DNAAF5):c.1707G>T:p.Arg569=	coding	Benign/Likely_benign
7	770470	G	T	G770470T	DNAAF5	NM_017802.4(DNAAF5):c.1784-1G>T	noncoding	Pathogenic
7	770582	T	C	T770582C	DNAAF5	NM_017802.4(DNAAF5):c.1895T>C:p.Val632Ala	coding	Benign
7	774140	C	T	C774140T	DNAAF5	NM_017802.4(DNAAF5):c.2024C>T:p.Thr675Met	coding	Benign
7	775151	G	A	G775151A	DNAAF5	NM_017802.4(DNAAF5):c.2228G>A:p.Arg743Lys	coding	Benign
7	779941	C	T	C779941T	DNAAF5	NM_017802.4(DNAAF5):c.2240-12C>T	noncoding	Benign
7	780047	C	T	C780047T	DNAAF5	NM_017802.4(DNAAF5):c.2334C>T:p.Asn778=	coding	Benign
7	780059	C	G	C780059G	DNAAF5	NM_017802.4(DNAAF5):c.2346C>G:p.Tyr782Ter	coding	Pathogenic
7	780074	C	T	C780074T	DNAAF5	NM_017802.4(DNAAF5):c.2361C>T:p.Val787=	coding	Benign
7	780097	T	C	T780097C	DNAAF5	NM_017802.4(DNAAF5):c.2384T>C:p.Leu795Pro	coding	Pathogenic
7	785557	G	A	G785557A	DNAAF5	NM_017802.4(DNAAF5):c.2472G>A:p.Leu824=	coding	Benign
7	785649	A	G	A785649G	DNAAF5	NM_017802.4(DNAAF5):c.2564A>G:p.Gln855Arg	coding	Benign/Likely_benign
7	838794	C	T	C838794T	SUN1	NM_001130965.3(SUN1):c.78-4C>T	noncoding	Benign
7	838795	T	C	T838795C	SUN1	NM_001130965.3(SUN1):c.78-3T>C	noncoding	Benign
7	838834	G	A	G838834A	SUN1	NM_001130965.3(SUN1):c.114G>A:p.Thr38=	coding	Benign
7	838946	G	T	G838946T	SUN1	NM_001130965.3(SUN1):c.226G>T:p.Gly76Cys	coding	Benign
7	838977	G	C	G838977C	SUN1	NM_001130965.3(SUN1):c.257G>C:p.Arg86Pro	coding	Benign
7	841957	A	C	A841957C	SUN1	NM_001130965.3(SUN1):c.278A>C:p.Gln93Pro	coding	Benign
7	842037	G	A	G842037A	SUN1	NM_001130965.3(SUN1):c.358G>A:p.Gly120Ser	coding	Benign
7	842045	C	T	C842045T	SUN1	NM_001130965.3(SUN1):c.366C>T:p.Val122=	coding	Benign
7	843451	G	A	G843451A	SUN1	NM_001130965.3(SUN1):c.589G>A:p.Val197Met	coding	Benign
7	843468	C	T	C843468T	SUN1	NM_001130965.3(SUN1):c.606C>T:p.Pro202=	coding	Benign
7	843470	C	T	C843470T	SUN1	NM_001130965.3(SUN1):c.608C>T:p.Ala203Val	coding	Benign
7	851454	G	A	G851454A	SUN1	NM_001130965.3(SUN1):c.729G>A:p.Ser243=	coding	Benign
7	851463	G	T	G851463T	SUN1	NM_001130965.3(SUN1):c.738G>T:p.Trp246Cys	coding	Benign
7	851941	C	A	C851941A	SUN1	NM_001130965.3(SUN1):c.758-9C>A	noncoding	Benign
7	853488	A	G	A853488G	SUN1	NM_001130965.3(SUN1):c.1133A>G:p.His378Arg	coding	Benign
7	860183	G	T	G860183T	SUN1	NM_001130965.3(SUN1):c.1580G>T:p.Gly527Val	coding	Benign
7	860249	C	T	C860249T	SUN1	NM_001130965.3(SUN1):c.1646C>T:p.Thr549Met	coding	Benign
7	869363	C	T	C869363T	SUN1	NM_001130965.3(SUN1):c.1995C>T:p.Pro665=	coding	Benign
7	869411	G	A	G869411A	SUN1	NM_001130965.3(SUN1):c.2043G>A:p.Arg681=	coding	Benign
7	869435	C	T	C869435T	SUN1	NM_001130965.3(SUN1):c.2067C>T:p.Ala689=	coding	Benign
7	869482	A	G	A869482G	SUN1	NM_001130965.3(SUN1):c.2114A>G:p.Asn705Ser	coding	Benign
7	872520	G	A	G872520A	SUN1	NM_001130965.3(SUN1):c.2199G>A:p.Thr733=	coding	Benign
7	872560	C	T	C872560T	SUN1	NM_001130965.3(SUN1):c.2239C>T:p.Leu747=	coding	Benign
7	873223	C	T	C873223T	SUN1	NM_001130965.3(SUN1):c.2250C>T:p.Pro750=	coding	Benign
7	892317	C	T	C892317T	GET4	NM_015949.3(GET4):c.645C>T:p.Val215=	coding	Benign
7	892365	G	A	G892365A	GET4	NM_015949.3(GET4):c.693G>A:p.Pro231=	coding	Benign
7	892416	C	T	C892416T	GET4	NM_015949.3(GET4):c.744C>T:p.Asp248=	coding	Benign
7	899208	C	T	C899208T	ADAP1	NM_006869.4(ADAP1):c.921G>A:p.Thr307=	coding	Benign
7	905180	G	C	G905180C	ADAP1	NM_006869.4(ADAP1):c.389-8C>G	noncoding	Benign
7	986749	G	A	G986749A	CYP2W1	NM_017781.3(CYP2W1):c.771G>A:p.Pro257=	coding	Benign
7	987371	G	A	G987371A	CYP2W1	NM_017781.3(CYP2W1):c.983G>A:p.Arg328His	coding	Benign
7	1057638	C	T	C1057638T	GPR146	NM_001303473.2(GPR146):c.123C>T:p.Gly41=	coding	Benign
7	1057959	C	T	C1057959T	GPR146	NM_001303473.2(GPR146):c.444C>T:p.Cys148=	coding	Benign
7	1091742	C	T	C1091742T	GPER1	NM_001098201.3(GPER1):c.14C>T:p.Ser5Phe	coding	Benign
7	1434624	G	A	G1434624A	MICALL2	NM_182924.4(MICALL2):c.2687C>T:p.Pro896Leu	coding	Benign
7	1434651	T	G	T1434651G	MICALL2	NM_182924.4(MICALL2):c.2660A>C:p.Lys887Thr	coding	Benign
7	1435155	G	A	G1435155A	MICALL2	NM_182924.4(MICALL2):c.2592-8C>T	noncoding	Benign
7	1436761	G	A	G1436761A	MICALL2	NM_182924.4(MICALL2):c.2572C>T:p.Leu858=	coding	Benign
7	1438138	C	T	C1438138T	MICALL2	NM_182924.4(MICALL2):c.2270G>A:p.Arg757His	coding	Benign
7	1438151	C	A	C1438151A	MICALL2	NM_182924.4(MICALL2):c.2257G>T:p.Ala753Ser	coding	Benign
7	1438326	G	A	G1438326A	MICALL2	NM_182924.4(MICALL2):c.2150C>T:p.Pro717Leu	coding	Benign
7	1438333	T	G	T1438333G	MICALL2	NM_182924.4(MICALL2):c.2143A>C:p.Asn715His	coding	Benign
7	1438940	G	A	G1438940A	MICALL2	NM_182924.4(MICALL2):c.2022C>T:p.Asp674=	coding	Benign
7	1438963	G	A	G1438963A	MICALL2	NM_182924.4(MICALL2):c.1999C>T:p.Leu667=	coding	Benign
7	1438974	C	T	C1438974T	MICALL2	NM_182924.4(MICALL2):c.1988G>A:p.Arg663His	coding	Benign
7	1439977	G	A	G1439977A	MICALL2	NM_182924.4(MICALL2):c.1914C>T:p.Pro638=	coding	Benign
7	1442347	G	A	G1442347A	MICALL2	NM_182924.4(MICALL2):c.1556C>T:p.Pro519Leu	coding	Benign
7	1442483	G	A	G1442483A	MICALL2	NM_182924.4(MICALL2):c.1420C>T:p.Pro474Ser	coding	Benign
7	1444720	C	T	C1444720T	MICALL2	NM_182924.4(MICALL2):c.1350G>A:p.Glu450=	coding	Benign
7	1444973	G	A	G1444973A	MICALL2	NM_182924.4(MICALL2):c.1097C>T:p.Pro366Leu	coding	Benign
7	1445047	G	T	G1445047T	MICALL2	NM_182924.4(MICALL2):c.1023C>A:p.Thr341=	coding	Benign
7	1445218	C	T	C1445218T	MICALL2	NM_182924.4(MICALL2):c.852G>A:p.Pro284=	coding	Benign
7	1445219	G	C	G1445219C	MICALL2	NM_182924.4(MICALL2):c.851C>G:p.Pro284Arg	coding	Pathogenic
7	1445286	C	T	C1445286T	MICALL2	NM_182924.4(MICALL2):c.784G>A:p.Ala262Thr	coding	Benign
7	1445398	C	T	C1445398T	MICALL2	NM_182924.4(MICALL2):c.672G>A:p.Ser224=	coding	Benign
7	1446745	G	A	G1446745A	MICALL2	NM_182924.4(MICALL2):c.609C>T:p.Ala203=	coding	Benign
7	1447566	G	C	G1447566C	MICALL2	NM_182924.4(MICALL2):c.525+9C>G	noncoding	Benign
7	1447590	G	A	G1447590A	MICALL2	NM_182924.4(MICALL2):c.510C>T:p.Gly170=	coding	Benign
7	1447748	C	A	C1447748A	MICALL2	NM_182924.4(MICALL2):c.352G>T:p.Val118Leu	coding	Benign
7	1448629	G	A	G1448629A	MICALL2	NM_182924.4(MICALL2):c.325C>T:p.Arg109Cys	coding	Benign
7	1448681	G	A	G1448681A	MICALL2	NM_182924.4(MICALL2):c.273C>T:p.Asp91=	coding	Benign
7	1459237	G	A	G1459237A	MICALL2	NM_182924.4(MICALL2):c.90C>T:p.Phe30=	coding	Benign
7	1470922	G	C	G1470922C	INTS1	NM_001080453.3(INTS1):c.6381C>G:p.Tyr2127Ter	coding	Pathogenic
7	1471195	G	A	G1471195A	INTS1	NM_001080453.3(INTS1):c.6285C>T:p.Ala2095=	coding	Benign
7	1471198	C	T	C1471198T	INTS1	NM_001080453.3(INTS1):c.6282G>A:p.Ser2094=	coding	Benign
7	1471637	C	T	C1471637T	INTS1	NM_001080453.3(INTS1):c.6189G>A:p.Leu2063=	coding	Benign
7	1472307	G	A	G1472307A	INTS1	NM_001080453.3(INTS1):c.6150C>T:p.Tyr2050=	coding	Benign
7	1473591	G	A	G1473591A	INTS1	NM_001080453.3(INTS1):c.5932C>T:p.Leu1978=	coding	Benign
7	1473642	G	A	G1473642A	INTS1	NM_001080453.3(INTS1):c.5881C>T:p.Gln1961Ter	coding	Pathogenic
7	1474330	G	A	G1474330A	INTS1	NM_001080453.3(INTS1):c.5667C>T:p.His1889=	coding	Benign
7	1474720	G	A	G1474720A	INTS1	NM_001080453.3(INTS1):c.5621C>T:p.Pro1874Leu	coding	Pathogenic
7	1475966	G	A	G1475966A	INTS1	NM_001080453.3(INTS1):c.5484C>T:p.Ala1828=	coding	Benign
7	1475998	G	A	G1475998A	INTS1	NM_001080453.3(INTS1):c.5452C>T:p.Pro1818Ser	coding	Benign
7	1476062	G	T	G1476062T	INTS1	NM_001080453.3(INTS1):c.5388C>A:p.Gly1796=	coding	Benign
7	1476256	G	T	G1476256T	INTS1	NM_001080453.3(INTS1):c.5351C>A:p.Ser1784Ter	coding	Pathogenic
7	1476464	G	T	G1476464T	INTS1	NM_001080453.3(INTS1):c.5152-9C>A	noncoding	Benign
7	1478865	G	A	G1478865A	INTS1	NM_001080453.3(INTS1):c.4350C>T:p.Thr1450=	coding	Benign
7	1480441	T	C	T1480441C	INTS1	NM_001080453.3(INTS1):c.3950A>G:p.Asp1317Gly	coding	Benign
7	1480447	G	A	G1480447A	INTS1	NM_001080453.3(INTS1):c.3950-6C>T	noncoding	Benign
7	1482706	G	A	G1482706A	INTS1	NM_001080453.3(INTS1):c.3543C>T:p.Ala1181=	coding	Benign
7	1483859	G	A	G1483859A	INTS1	NM_001080453.3(INTS1):c.3430-6C>T	noncoding	Benign
7	1484093	C	A	C1484093A	INTS1	NM_001080453.3(INTS1):c.3339G>T:p.Ser1113=	coding	Benign
7	1484099	G	A	G1484099A	INTS1	NM_001080453.3(INTS1):c.3333C>T:p.Ala1111=	coding	Benign
7	1485334	G	A	G1485334A	INTS1	NM_001080453.3(INTS1):c.3112C>T:p.Leu1038=	coding	Benign
7	1485461	C	T	C1485461T	INTS1	NM_001080453.3(INTS1):c.2985G>A:p.Ser995=	coding	Benign
7	1486655	G	A	G1486655A	INTS1	NM_001080453.3(INTS1):c.2946C>T:p.Ser982=	coding	Benign
7	1495441	G	A	G1495441A	INTS1	NM_001080453.3(INTS1):c.1824C>T:p.Tyr608=	coding	Benign
7	1495549	C	T	C1495549T	INTS1	NM_001080453.3(INTS1):c.1716G>A:p.Leu572=	coding	Benign
7	1496202	C	T	C1496202T	INTS1	NM_001080453.3(INTS1):c.1665G>A:p.Ala555=	coding	Benign
7	1496222	T	C	T1496222C	INTS1	NM_001080453.3(INTS1):c.1645A>G:p.Met549Val	coding	Pathogenic
7	1497267	G	A	G1497267A	INTS1	NM_001080453.3(INTS1):c.1473C>T:p.Tyr491=	coding	Benign
7	1498481	G	A	G1498481A	INTS1	NM_001080453.3(INTS1):c.1356C>T:p.Ser452=	coding	Benign
7	1498511	G	A	G1498511A	INTS1	NM_001080453.3(INTS1):c.1326C>T:p.Ile442=	coding	Benign
7	1498538	C	T	C1498538T	INTS1	NM_001080453.3(INTS1):c.1299G>A:p.Ala433=	coding	Benign
7	1498790	G	A	G1498790A	INTS1	NM_001080453.3(INTS1):c.1200C>T:p.Ser400=	coding	Benign
7	1499003	T	C	T1499003C	INTS1	NM_001080453.3(INTS1):c.1109A>G:p.Lys370Arg	coding	Benign
7	1499335	C	T	C1499335T	INTS1	NM_001080453.3(INTS1):c.870G>A:p.Thr290=	coding	Benign
7	1499582	G	A	G1499582A	INTS1	NM_001080453.3(INTS1):c.735C>T:p.His245=	coding	Benign
7	1500373	G	A	G1500373A	INTS1	NM_001080453.3(INTS1):c.350-7C>T	noncoding	Benign
7	1503021	G	A	G1503021A	INTS1	NM_001080453.3(INTS1):c.229C>T:p.Arg77Cys	coding	Pathogenic
7	1548529	C	T	C1548529T	TMEM184A	NM_001097620.2(TMEM184A):c.804G>A:p.Ser268=	coding	Benign
7	1549916	G	A	G1549916A	TMEM184A	NM_001097620.2(TMEM184A):c.582C>T:p.Pro194=	coding	Benign
7	1550147	G	A	G1550147A	TMEM184A	NM_001097620.2(TMEM184A):c.528C>T:p.Ile176=	coding	Benign
7	1555369	C	T	C1555369T	TMEM184A	NM_001097620.2(TMEM184A):c.116G>A:p.Gly39Glu	coding	Benign
7	1744638	G	A	G1744638A	ELFN1	NM_001128636.3(ELFN1):c.42G>A:p.Ala14=	coding	Benign
7	1744656	C	T	C1744656T	ELFN1	NM_001128636.3(ELFN1):c.60C>T:p.His20=	coding	Benign
7	1744893	C	T	C1744893T	ELFN1	NM_001128636.3(ELFN1):c.297C>T:p.Ile99=	coding	Benign
7	1744911	G	A	G1744911A	ELFN1	NM_001128636.3(ELFN1):c.315G>A:p.Ser105=	coding	Benign
7	1745280	C	G	C1745280G	ELFN1	NM_001128636.3(ELFN1):c.684C>G:p.Gly228=	coding	Benign
7	1745370	G	A	G1745370A	ELFN1	NM_001128636.3(ELFN1):c.774G>A:p.Glu258=	coding	Benign
7	1745829	C	T	C1745829T	ELFN1	NM_001128636.3(ELFN1):c.1233C>T:p.Ser411=	coding	Benign
7	1745832	C	T	C1745832T	ELFN1	NM_001128636.3(ELFN1):c.1236C>T:p.Pro412=	coding	Benign
7	1746026	C	T	C1746026T	ELFN1	NM_001128636.3(ELFN1):c.1430C>T:p.Ala477Val	coding	Benign
7	1746438	C	T	C1746438T	ELFN1	NM_001128636.3(ELFN1):c.1842C>T:p.Pro614=	coding	Benign
7	1746484	G	A	G1746484A	ELFN1	NM_001128636.3(ELFN1):c.1888G>A:p.Val630Met	coding	Benign
7	1746537	C	T	C1746537T	ELFN1	NM_001128636.3(ELFN1):c.1941C>T:p.Arg647=	coding	Benign
7	1746984	G	C	G1746984C	ELFN1	NM_001128636.3(ELFN1):c.2388G>C:p.Ala796=	coding	Benign
7	1747065	G	A	G1747065A	ELFN1	NM_001128636.3(ELFN1):c.2469G>A:p.Ser823=	coding	Benign
7	1898239	C	T	C1898239T	MAD1L1	NM_003550.3(MAD1L1):c.1959G>A:p.Ser653=	coding	Benign
7	1898251	G	C	G1898251C	MAD1L1	NM_003550.3(MAD1L1):c.1947C>G:p.Tyr649Ter	coding	Pathogenic
7	2014598	C	T	C2014598T	MAD1L1	NM_003550.3(MAD1L1):c.1263G>A:p.Glu421=	coding	Benign
7	2213240	G	A	G2213240A	MAD1L1	NM_003550.3(MAD1L1):c.958C>T:p.Leu320=	coding	Benign
7	2216009	C	T	C2216009T	MAD1L1	NM_003550.3(MAD1L1):c.810-10G>A	noncoding	Benign
7	2225526	G	A	G2225526A	MAD1L1	NM_003550.3(MAD1L1):c.175C>T:p.Arg59Cys	coding	Pathogenic
7	2235298	C	T	C2235298T	MRM2	NM_013393.3(MRM2):c.565G>A	coding	Pathogenic
7	2235542	G	A	G2235542A	MRM2	NM_013393.3(MRM2):c.321C>T:p.Phe107=	coding	Benign
7	2239684	G	A	G2239684A	MRM2	NM_013393.3(MRM2):c.32C>T:p.Ser11Phe	coding	Benign
7	2256865	C	A	C2256865A	SNX8	NM_013321.4(SNX8):c.1284+9G>T	noncoding	Benign
7	2278103	G	A	G2278103A	SNX8	NM_013321.4(SNX8):c.297C>T:p.Ser99=	coding	Benign
7	2278299	G	A	G2278299A	SNX8	NM_013321.4(SNX8):c.101C>T:p.Pro34Leu	coding	Benign
7	2360759	C	T	C2360759T	EIF3B	NM_001037283.2(EIF3B):c.549C>T:p.Ile183=	coding	Benign
7	2364367	T	C	T2364367C	EIF3B	NM_001037283.2(EIF3B):c.1000-5T>C	noncoding	Benign
7	2364500	T	C	T2364500C	EIF3B	NM_001037283.2(EIF3B):c.1128T>C:p.Val376=	coding	Benign
7	2366416	C	T	C2366416T	EIF3B	NM_001037283.2(EIF3B):c.1257C>T:p.His419=	coding	Benign
7	2372728	C	T	C2372728T	EIF3B	NM_001037283.2(EIF3B):c.1743C>T:p.His581=	coding	Benign
7	2374601	G	A	G2374601A	EIF3B	NM_001037283.2(EIF3B):c.1884G>A:p.Leu628=	coding	Benign
7	2375443	C	T	C2375443T	EIF3B	NM_001037283.2(EIF3B):c.1944C>T:p.Ile648=	coding	Benign
7	2433268	C	G	C2433268G	CHST12	NM_018641.5(CHST12):c.629C>G:p.Ala210Gly	coding	Benign
7	2524746	G	A	G2524746A	LFNG	NM_001040167.2(LFNG):c.481+3G>A	noncoding	Benign/Likely_benign
7	2525215	A	G	A2525215G	LFNG	NM_001040167.2(LFNG):c.482-4A>G	noncoding	Benign
7	2525301	C	A	C2525301A	LFNG	NM_001040167.2(LFNG):c.564C>A:p.Phe188Leu	coding	Pathogenic
7	2525433	G	A	G2525433A	LFNG	NM_001040167.2(LFNG):c.601G>A:p.Asp201Asn	coding	Pathogenic
7	2525444	C	T	C2525444T	LFNG	NM_001040167.2(LFNG):c.612C>T:p.Tyr204=	coding	Benign/Likely_benign
7	2525649	C	T	C2525649T	LFNG	NM_001040167.2(LFNG):c.736-36C>T	noncoding	Benign
7	2526206	C	T	C2526206T	LFNG	NM_001040167.2(LFNG):c.822-38C>T	noncoding	Benign
7	2526342	G	A	G2526342A	LFNG	NM_001040167.2(LFNG):c.920G>A:p.Arg307His	coding	Benign
7	2526394	G	A	G2526394A	LFNG	NM_001040167.2(LFNG):c.972G>A:p.Ser324=	coding	Benign
7	2526799	G	A	G2526799A	LFNG	NM_001040167.2(LFNG):c.988-37G>A	noncoding	Benign
7	2526850	C	T	C2526850T	LFNG	NM_001040167.2(LFNG):c.1002C>T:p.Tyr334=	coding	Benign
7	2527176	G	A	G2527176A	LFNG	NM_001040167.2(LFNG):c.1104G>A:p.Pro368=	coding	Benign
7	2538147	T	C	T2538147C	BRAT1	NM_152743.4(BRAT1):c.2388A>G:p.Glu796=	coding	Benign
7	2538285	G	A	G2538285A	BRAT1	NM_152743.4(BRAT1):c.2250C>T:p.Ala750=	coding	Benign
7	2538326	G	A	G2538326A	BRAT1	NM_152743.4(BRAT1):c.2209C>T:p.Arg737Trp	coding	Benign
7	2538327	C	A	C2538327A	BRAT1	NM_152743.4(BRAT1):c.2208G>T:p.Leu736=	coding	Benign
7	2538366	A	T	A2538366T	BRAT1	NM_152743.4(BRAT1):c.2169T>A:p.Leu723=	coding	Benign
7	2538483	T	C	T2538483C	BRAT1	NM_152743.4(BRAT1):c.2052A>G:p.Pro684=	coding	Benign
7	2538603	T	C	T2538603C	BRAT1	NM_152743.4(BRAT1):c.1932A>G:p.Arg644=	coding	Benign
7	2538612	C	T	C2538612T	BRAT1	NM_152743.4(BRAT1):c.1923G>A:p.Ala641=	coding	Benign
7	2538651	G	A	G2538651A	BRAT1	NM_152743.4(BRAT1):c.1884C>T:p.Ala628=	coding	Benign
7	2538668	C	T	C2538668T	BRAT1	NM_152743.4(BRAT1):c.1867G>A:p.Gly623Ser	coding	Benign/Likely_benign
7	2538673	C	T	C2538673T	BRAT1	NM_152743.4(BRAT1):c.1862G>A:p.Arg621Gln	coding	Benign/Likely_benign
7	2538678	C	T	C2538678T	BRAT1	NM_152743.4(BRAT1):c.1857G>A:p.Trp619Ter	coding	Pathogenic
7	2538737	G	A	G2538737A	BRAT1	NM_152743.4(BRAT1):c.1798C>T:p.Leu600Phe	coding	Benign
7	2538765	C	T	C2538765T	BRAT1	NM_152743.4(BRAT1):c.1771-1G>A	coding	Pathogenic
7	2539209	G	A	G2539209A	BRAT1	NM_152743.4(BRAT1):c.1740C>T:p.Pro580=	coding	Benign
7	2539223	C	T	C2539223T	BRAT1	NM_152743.4(BRAT1):c.1726G>A:p.Gly576Ser	coding	Benign
7	2539248	G	A	G2539248A	BRAT1	NM_152743.4(BRAT1):c.1701C>T:p.Thr567=	coding	Benign
7	2539260	C	T	C2539260T	BRAT1	NM_152743.4(BRAT1):c.1689G>A:p.Ala563=	coding	Benign
7	2539265	G	A	G2539265A	BRAT1	NM_152743.4(BRAT1):c.1684C>T:p.Arg562Ter	coding	Pathogenic
7	2539290	G	A	G2539290A	BRAT1	NM_152743.4(BRAT1):c.1659C>T:p.Leu553=	coding	Benign
7	2539313	C	A	C2539313A	BRAT1	NM_152743.4(BRAT1):c.1636G>T:p.Val546Leu	coding	Benign
7	2539562	G	A	G2539562A	BRAT1	NM_152743.4(BRAT1):c.1579C>T:p.Leu527=	coding	Benign
7	2539565	G	A	G2539565A	BRAT1	NM_152743.4(BRAT1):c.1576C>T:p.Gln526Ter	coding	Pathogenic
7	2539650	G	A	G2539650A	BRAT1	NM_152743.4(BRAT1):c.1499-8C>T	noncoding	Benign
7	2541314	C	A	C2541314A	BRAT1	NM_152743.4(BRAT1):c.1305G>T:p.Thr435=	coding	Benign
7	2541413	G	A	G2541413A	BRAT1	NM_152743.4(BRAT1):c.1206C>T:p.Asp402=	coding	Benign
7	2541423	C	T	C2541423T	BRAT1	NM_152743.4(BRAT1):c.1196G>A:p.Arg399Gln	coding	Benign
7	2541492	G	T	G2541492T	BRAT1	NM_152743.4(BRAT1):c.1135-8C>A	noncoding	Benign/Likely_benign
7	2542142	C	T	C2542142T	BRAT1	NM_152743.4(BRAT1):c.993G>A:p.Thr331=	coding	Benign
7	2542171	G	A	G2542171A	BRAT1	NM_152743.4(BRAT1):c.964C>T:p.Gln322Ter	coding	Pathogenic
7	2542173	A	C	A2542173C	BRAT1	NM_152743.4(BRAT1):c.962T>G:p.Leu321Arg	coding	Benign/Likely_benign
7	2543261	C	G	C2543261G	BRAT1	NM_152743.4(BRAT1):c.866G>C:p.Cys289Ser	coding	Benign/Likely_benign
7	2543273	C	T	C2543273T	BRAT1	NM_152743.4(BRAT1):c.854G>A:p.Arg285Gln	coding	Benign
7	2543302	G	A	G2543302A	BRAT1	NM_152743.4(BRAT1):c.825C>T:p.Ser275=	coding	Benign
7	2543589	C	G	C2543589G	BRAT1	NM_152743.4(BRAT1):c.803+1G>C	noncoding	Pathogenic
7	2543590	C	T	C2543590T	BRAT1	NM_152743.4(BRAT1):c.803G>A:p.Arg268His	coding	Pathogenic/Likely_pathogenic
7	2543631	G	A	G2543631A	BRAT1	NM_152743.4(BRAT1):c.762C>T:p.Pro254=	coding	Benign
7	2543694	C	T	C2543694T	BRAT1	NM_152743.4(BRAT1):c.699G>A:p.Thr233=	coding	Benign
7	2543718	G	A	G2543718A	BRAT1	NM_152743.4(BRAT1):c.675C>T:p.Phe225=	coding	Benign
7	2543827	C	A	C2543827A	BRAT1	NM_152743.4(BRAT1):c.566G>T:p.Gly189Val	coding	Benign
7	2543962	C	T	C2543962T	BRAT1	NM_152743.4(BRAT1):c.431G>A:p.Gly144Asp	coding	Benign
7	2547315	C	T	C2547315T	BRAT1	NM_152743.4(BRAT1):c.282+9G>A	noncoding	Benign
7	2547430	A	G	A2547430G	BRAT1	NM_152743.4(BRAT1):c.176T>C:p.Leu59Pro	coding	Pathogenic
7	2547440	C	T	C2547440T	BRAT1	NM_152743.4(BRAT1):c.166G>A:p.Val56Met	coding	Benign
7	2554327	C	T	C2554327T	BRAT1	NM_152743.4(BRAT1):c.105G>A:p.Trp35Ter	coding	Pathogenic
7	2572233	C	A	C2572233A	IQCE	NM_152558.5(IQCE):c.301C>A:p.His101Asn	coding	Benign
7	2572256	C	T	C2572256T	IQCE	NM_152558.5(IQCE):c.324C>T:p.Gly108=	coding	Benign
7	2572274	G	C	G2572274C	IQCE	NM_152558.5(IQCE):c.342G>C:p.Leu114=	coding	Benign
7	2573417	G	A	G2573417A	IQCE	NM_152558.5(IQCE):c.395-1G>A	noncoding	Pathogenic
7	2583719	G	A	G2583719A	IQCE	NM_152558.5(IQCE):c.774+10G>A	noncoding	Benign
7	2584247	C	G	C2584247G	IQCE	NM_152558.5(IQCE):c.786C>G:p.Leu262=	coding	Benign
7	2584277	C	T	C2584277T	IQCE	NM_152558.5(IQCE):c.816C>T:p.Thr272=	coding	Benign
7	2586214	G	A	G2586214A	IQCE	NM_152558.5(IQCE):c.831G>A:p.Leu277=	coding	Benign
7	2586262	C	T	C2586262T	IQCE	NM_152558.5(IQCE):c.879C>T:p.Ala293=	coding	Benign
7	2586332	C	T	C2586332T	IQCE	NM_152558.5(IQCE):c.949C>T:p.Arg317Cys	coding	Benign
7	2589973	T	C	T2589973C	IQCE	NM_152558.5(IQCE):c.1111T>C:p.Cys371Arg	coding	Benign
7	2590026	G	A	G2590026A	IQCE	NM_152558.5(IQCE):c.1164G>A:p.Lys388=	coding	Benign
7	2590037	G	A	G2590037A	IQCE	NM_152558.5(IQCE):c.1175G>A:p.Arg392His	coding	Benign
7	2594901	A	G	A2594901G	IQCE	NM_152558.5(IQCE):c.1365A>G:p.Thr455=	coding	Benign
7	2598555	C	T	C2598555T	IQCE	NM_152558.5(IQCE):c.1531C>T:p.Arg511Cys	coding	Benign
7	2598557	C	T	C2598557T	IQCE	NM_152558.5(IQCE):c.1533C>T:p.Arg511=	coding	Benign
7	2604955	C	T	C2604955T	IQCE	NM_152558.5(IQCE):c.1707C>T:p.Gly569=	coding	Benign
7	2607171	C	G	C2607171G	IQCE	NM_152558.5(IQCE):c.1913C>G:p.Ser638Trp	coding	Benign
7	2607193	C	T	C2607193T	IQCE	NM_152558.5(IQCE):c.1935C>T:p.Asp645=	coding	Benign
7	2610051	T	C	T2610051C	IQCE	NM_152558.5(IQCE):c.1977T>C:p.Ser659=	coding	Benign
7	2610111	C	T	C2610111T	IQCE	NM_152558.5(IQCE):c.2037C>T:p.Ser679=	coding	Benign
7	2709210	G	C	G2709210C	AMZ1	NM_133463.3(AMZ1):c.737G>C:p.Cys246Ser	coding	Benign
7	2712353	G	A	G2712353A	AMZ1	NM_133463.3(AMZ1):c.972G>A:p.Ala324=	coding	Benign
7	2712419	C	T	C2712419T	AMZ1	NM_133463.3(AMZ1):c.1038C>T:p.Ala346=	coding	Benign
7	2712431	G	A	G2712431A	AMZ1	NM_133463.3(AMZ1):c.1050G>A:p.Ser350=	coding	Benign
7	2712521	G	A	G2712521A	AMZ1	NM_133463.3(AMZ1):c.1140G>A:p.Gly380=	coding	Benign
7	2712688	C	T	C2712688T	AMZ1	NM_133463.3(AMZ1):c.1307C>T:p.Ala436Val	coding	Benign
7	2712696	C	T	C2712696T	AMZ1	NM_133463.3(AMZ1):c.1315C>T:p.Arg439Cys	coding	Benign
7	2731349	G	A	G2731349A	GNA12	NM_007353.3(GNA12):c.978C>T:p.Asp326=	coding	Benign
7	2906704	G	A	G2906704A	CARD11	NM_032415.6(CARD11):c.3399C>T:p.Arg1133=	coding	Benign
7	2906707	G	A	G2906707A	CARD11	NM_032415.6(CARD11):c.3396C>T:p.Leu1132=	coding	Benign
7	2906827	T	C	T2906827C	CARD11	NM_032415.6(CARD11):c.3276A>G:p.Arg1092=	coding	Benign
7	2912163	C	T	C2912163T	CARD11	NM_032415.6(CARD11):c.3144+9G>A	noncoding	Benign
7	2912226	G	A	G2912226A	CARD11	NM_032415.6(CARD11):c.3090C>T:p.Asn1030=	coding	Benign
7	2913278	G	A	G2913278A	CARD11	NM_032415.6(CARD11):c.3019+9C>T	noncoding	Benign
7	2913280	C	T	C2913280T	CARD11	NM_032415.6(CARD11):c.3019+7G>A	noncoding	Benign
7	2913281	G	A	G2913281A	CARD11	NM_032415.6(CARD11):c.3019+6C>T	noncoding	Benign
7	2913393	G	A	G2913393A	CARD11	NM_032415.6(CARD11):c.2913C>T:p.Cys971=	coding	Benign
7	2915243	G	A	G2915243A	CARD11	NM_032415.6(CARD11):c.2833C>T:p.Gln945Ter	coding	Pathogenic
7	2915328	G	A	G2915328A	CARD11	NM_032415.6(CARD11):c.2748C>T:p.Asn916=	coding	Benign
7	2917323	C	T	C2917323T	CARD11	NM_032415.6(CARD11):c.2670G>A:p.Ser890=	coding	Benign
7	2919373	G	A	G2919373A	CARD11	NM_032415.6(CARD11):c.2509C>T:p.Arg837Ter	coding	Pathogenic
7	2919383	G	A	G2919383A	CARD11	NM_032415.6(CARD11):c.2499C>T:p.Pro833=	coding	Benign
7	2919431	C	T	C2919431T	CARD11	NM_032415.6(CARD11):c.2451G>A:p.Ala817=	coding	Benign
7	2923119	G	A	G2923119A	CARD11	NM_032415.6(CARD11):c.2142+13C>T	noncoding	Benign
7	2923213	C	T	C2923213T	CARD11	NM_032415.6(CARD11):c.2061G>A:p.Ala687=	coding	Benign
7	2924250	C	T	C2924250T	CARD11	NM_032415.6(CARD11):c.1923G>A:p.Arg641=	coding	Benign
7	2924361	G	A	G2924361A	CARD11	NM_032415.6(CARD11):c.1812C>T:p.Asp604=	coding	Benign
7	2928611	C	T	C2928611T	CARD11	NM_032415.6(CARD11):c.1741G>A:p.Ala581Thr	coding	Benign
7	2928657	G	A	G2928657A	CARD11	NM_032415.6(CARD11):c.1695C>T:p.Ala565=	coding	Benign
7	2930046	G	A	G2930046A	CARD11	NM_032415.6(CARD11):c.1599C>T:p.Asp533=	coding	Benign
7	2930055	T	G	T2930055G	CARD11	NM_032415.6(CARD11):c.1590A>C:p.Glu530Asp	coding	Benign
7	2934531	C	T	C2934531T	CARD11	NM_032415.6(CARD11):c.1440G>A:p.Ser480=	coding	Benign
7	2937118	C	T	C2937118T	CARD11	NM_032415.6(CARD11):c.1260G>A:p.Glu420=	coding	Benign
7	2937133	G	A	G2937133A	CARD11	NM_032415.6(CARD11):c.1245C>T:p.Asp415=	coding	Benign
7	2937151	C	T	C2937151T	CARD11	NM_032415.6(CARD11):c.1227G>A:p.Glu409=	coding	Benign
7	2937166	C	T	C2937166T	CARD11	NM_032415.6(CARD11):c.1212G>A:p.Arg404=	coding	Benign/Likely_benign
7	2944377	C	T	C2944377T	CARD11	NM_032415.6(CARD11):c.519G>A:p.Leu173=	coding	Benign
7	2944495	T	C	T2944495C	CARD11	NM_032415.6(CARD11):c.401A>G:p.Glu134Gly	coding	Pathogenic
7	2944528	C	T	C2944528T	CARD11	NM_032415.6(CARD11):c.368G>A:p.Gly123Asp	coding	Pathogenic
7	2944529	C	T	C2944529T	CARD11	NM_032415.6(CARD11):c.367G>A:p.Gly123Ser	coding	Pathogenic
7	2945952	C	G	C2945952G	CARD11	NM_032415.6(CARD11):c.225G>C:p.Arg75=	coding	Benign
7	2947559	G	A	G2947559A	CARD11	NM_032415.6(CARD11):c.220+16C>T	noncoding	Benign
7	2947574	C	T	C2947574T	CARD11	NM_032415.6(CARD11):c.220+1G>A	noncoding	Pathogenic
7	2947615	C	A	C2947615A	CARD11	NM_032415.6(CARD11):c.180G>T:p.Val60=	coding	Benign
7	2947649	C	T	C2947649T	CARD11	NM_032415.6(CARD11):c.146G>A:p.Cys49Tyr	coding	Pathogenic
7	3619200	G	A	G3619200A	SDK1	NM_152744.4(SDK1):c.419G>A:p.Arg140His	coding	Benign
7	3641983	C	G	C3641983G	SDK1	NM_152744.4(SDK1):c.591C>G:p.Asp197Glu	coding	Benign
7	3950933	C	T	C3950933T	SDK1	NM_152744.4(SDK1):c.858C>T:p.Gly286=	coding	Benign
7	3951025	C	T	C3951025T	SDK1	NM_152744.4(SDK1):c.950C>T:p.Ala317Val	coding	Benign
7	3951853	C	A	C3951853A	SDK1	NM_152744.4(SDK1):c.1083C>A:p.Val361=	coding	Benign
7	3951928	G	A	G3951928A	SDK1	NM_152744.4(SDK1):c.1150+8G>A	noncoding	Benign
7	3958956	C	T	C3958956T	SDK1	NM_152744.4(SDK1):c.1176C>T:p.Pro392=	coding	Benign
7	3962839	C	T	C3962839T	SDK1	NM_152744.4(SDK1):c.1417C>T:p.Leu473=	coding	Benign
7	3967428	A	G	A3967428G	SDK1	NM_152744.4(SDK1):c.1540A>G:p.Lys514Glu	coding	Benign
7	3974407	C	T	C3974407T	SDK1	NM_152744.4(SDK1):c.1856C>T:p.Ser619Leu	coding	Benign
7	4051651	C	T	C4051651T	SDK1	NM_152744.4(SDK1):c.2732C>T:p.Pro911Leu	coding	Benign
7	4077044	C	T	C4077044T	SDK1	NM_152744.4(SDK1):c.3057C>T:p.Leu1019=	coding	Benign
7	4077065	G	A	G4077065A	SDK1	NM_152744.4(SDK1):c.3078G>A:p.Thr1026=	coding	Benign
7	4110680	C	T	C4110680T	SDK1	NM_152744.4(SDK1):c.3342C>T:p.Asp1114=	coding	Benign
7	4130009	G	A	G4130009A	SDK1	NM_152744.4(SDK1):c.4041G>A:p.Val1347=	coding	Benign
7	4220251	C	T	C4220251T	SDK1	NM_152744.4(SDK1):c.5682C>T:p.Ile1894=	coding	Benign
7	4682510	G	A	G4682510A	FOXK1	NM_001037165.2(FOXK1):c.202G>A:p.Ala68Thr	coding	Benign
7	4755368	C	T	C4755368T	FOXK1	NM_001037165.2(FOXK1):c.1035C>T:p.Ala345=	coding	Benign
7	4759099	C	T	C4759099T	FOXK1	NM_001037165.2(FOXK1):c.1293C>T:p.Ser431=	coding	Benign
7	4761298	T	C	T4761298C	FOXK1	NM_001037165.2(FOXK1):c.1921+10T>C	noncoding	Benign
7	4762230	C	T	C4762230T	FOXK1	NM_001037165.2(FOXK1):c.1968C>T:p.Ser656=	coding	Benign
7	4762434	C	T	C4762434T	FOXK1	NM_001037165.2(FOXK1):c.2172C>T:p.Ala724=	coding	Benign
7	4781669	C	G	C4781669G	AP5Z1	NM_014855.3(AP5Z1):c.281C>G:p.Ser94Cys	coding	Benign/Likely_benign
7	4781721	G	C	G4781721C	AP5Z1	NM_014855.3(AP5Z1):c.333G>C:p.Gln111His	coding	Benign/Likely_benign
7	4783318	T	C	T4783318C	AP5Z1	NM_014855.3(AP5Z1):c.369T>C:p.Gly123=	coding	Benign
7	4783328	G	A	G4783328A	AP5Z1	NM_014855.3(AP5Z1):c.379G>A:p.Glu127Lys	coding	Benign/Likely_benign
7	4783377	G	A	G4783377A	AP5Z1	NM_014855.3(AP5Z1):c.428G>A:p.Arg143Gln	coding	Benign
7	4783439	A	G	A4783439G	AP5Z1	NM_014855.3(AP5Z1):c.490A>G:p.Ser164Gly	coding	Benign/Likely_benign
7	4783682	A	G	A4783682G	AP5Z1	NM_014855.3(AP5Z1):c.512-7A>G	noncoding	Benign
7	4783765	C	T	C4783765T	AP5Z1	NM_014855.3(AP5Z1):c.588C>T:p.Ser196=	coding	Benign/Likely_benign
7	4783793	C	T	C4783793T	AP5Z1	NM_014855.3(AP5Z1):c.616C>T:p.Arg206Trp	coding	Pathogenic
7	4784287	C	T	C4784287T	AP5Z1	NM_014855.3(AP5Z1):c.706C>T:p.Gln236Ter	coding	Pathogenic
7	4784340	C	T	C4784340T	AP5Z1	NM_014855.3(AP5Z1):c.759C>T:p.Ser253=	coding	Benign
7	4784349	G	A	G4784349A	AP5Z1	NM_014855.3(AP5Z1):c.768G>A:p.Glu256=	coding	Benign
7	4784355	G	A	G4784355A	AP5Z1	NM_014855.3(AP5Z1):c.774G>A:p.Pro258=	coding	Benign
7	4784903	C	T	C4784903T	AP5Z1	NM_014855.3(AP5Z1):c.791-5C>T	noncoding	Benign
7	4785017	C	T	C4785017T	AP5Z1	NM_014855.3(AP5Z1):c.900C>T:p.Tyr300=	coding	Benign/Likely_benign
7	4785509	C	T	C4785509T	AP5Z1	NM_014855.3(AP5Z1):c.970-13C>T	noncoding	Benign
7	4785585	C	T	C4785585T	AP5Z1	NM_014855.3(AP5Z1):c.1033C>T:p.Arg345Ter	coding	Pathogenic
7	4785676	T	A	T4785676A	AP5Z1	NM_014855.3(AP5Z1):c.1124T>A:p.Leu375Gln	coding	Benign
7	4785683	C	T	C4785683T	AP5Z1	NM_014855.3(AP5Z1):c.1131C>T:p.His377=	coding	Benign
7	4786272	G	A	G4786272A	AP5Z1	NM_014855.3(AP5Z1):c.1155G>A:p.Ser385=	coding	Benign
7	4786314	G	A	G4786314A	AP5Z1	NM_014855.3(AP5Z1):c.1197G>A:p.Glu399=	coding	Benign/Likely_benign
7	4787644	G	A	G4787644A	AP5Z1	NM_014855.3(AP5Z1):c.1322G>A:p.Trp441Ter	coding	Pathogenic
7	4787691	C	T	C4787691T	AP5Z1	NM_014855.3(AP5Z1):c.1369C>T:p.Leu457=	coding	Benign
7	4787699	C	T	C4787699T	AP5Z1	NM_014855.3(AP5Z1):c.1377C>T:p.Asp459=	coding	Benign
7	4787756	G	A	G4787756A	AP5Z1	NM_014855.3(AP5Z1):c.1434G>A:p.Ala478=	coding	Benign
7	4788228	G	A	G4788228A	AP5Z1	NM_014855.3(AP5Z1):c.1529G>A:p.Arg510Gln	coding	Benign
7	4788253	C	T	C4788253T	AP5Z1	NM_014855.3(AP5Z1):c.1554C>T:p.Phe518=	coding	Benign
7	4788962	T	C	T4788962C	AP5Z1	NM_014855.3(AP5Z1):c.1707+11T>C	noncoding	Benign
7	4789818	C	T	C4789818T	AP5Z1	NM_014855.3(AP5Z1):c.1708-14C>T	noncoding	Benign
7	4789827	C	T	C4789827T	AP5Z1	NM_014855.3(AP5Z1):c.1708-5C>T	noncoding	Benign/Likely_benign
7	4789856	C	T	C4789856T	AP5Z1	NM_014855.3(AP5Z1):c.1732C>T:p.Gln578Ter	coding	Pathogenic
7	4790447	C	T	C4790447T	AP5Z1	NM_014855.3(AP5Z1):c.1806-12C>T	noncoding	Benign
7	4790664	C	T	C4790664T	AP5Z1	NM_014855.3(AP5Z1):c.1939-9C>T	noncoding	Benign
7	4790832	G	A	G4790832A	AP5Z1	NM_014855.3(AP5Z1):c.2098G>A:p.Val700Met	coding	Benign/Likely_benign
7	4791191	G	A	G4791191A	AP5Z1	NM_014855.3(AP5Z1):c.2230G>A:p.Ala744Thr	coding	Benign/Likely_benign
7	4791289	C	A	C4791289A	AP5Z1	NM_014855.3(AP5Z1):c.2328C>A:p.Ser776Arg	coding	Benign/Likely_benign
7	4791340	G	T	G4791340T	AP5Z1	NM_014855.3(AP5Z1):c.2379G>T:p.Thr793=	coding	Benign/Likely_benign
7	4791430	A	G	A4791430G	AP5Z1	NM_014855.3(AP5Z1):c.*45A>G	noncoding	Benign
7	4792044	G	A	G4792044A	AP5Z1	NM_014855.3(AP5Z1):c.*659G>A	noncoding	Benign
7	4792979	C	A	C4792979A	AP5Z1	NM_014855.3(AP5Z1):c.*1594C>A	noncoding	Benign
7	4799680	G	A	G4799680A	RADIL	NM_018059.5(RADIL):c.3072C>T:p.Asp1024=	coding	Benign
7	4816445	C	T	C4816445T	RADIL	NM_018059.5(RADIL):c.1749G>A:p.Pro583=	coding	Benign
7	5216554	C	T	C5216554T	WIPI2	NM_015610.4(WIPI2):c.382-9C>T	noncoding	Benign
7	5217969	G	A	G5217969A	WIPI2	NM_015610.4(WIPI2):c.624G>A:p.Leu208=	coding	Benign
7	5225827	G	A	G5225827A	WIPI2	NM_015610.4(WIPI2):c.745G>A:p.Val249Met	coding	Pathogenic
7	5227327	C	T	C5227327T	WIPI2	NM_015610.4(WIPI2):c.996C>T:p.Asn332=	coding	Benign
7	5228143	C	T	C5228143T	WIPI2	NM_015610.4(WIPI2):c.1053C>T:p.Asp351=	coding	Benign
7	5229683	A	G	A5229683G	WIPI2	NM_015610.4(WIPI2):c.1197A>G:p.Thr399=	coding	Benign
7	5230849	C	T	C5230849T	WIPI2	NM_015610.4(WIPI2):c.1267C>T:p.Leu423=	coding	Benign
7	5287886	A	C	A5287886C	SLC29A4	NM_153247.3(SLC29A4):c.70A>C:p.Met24Leu	coding	Benign
7	5297082	C	T	C5297082T	SLC29A4	NM_153247.3(SLC29A4):c.766C>T:p.Arg256Cys	coding	Benign
7	5297174	C	T	C5297174T	SLC29A4	NM_153247.3(SLC29A4):c.858C>T:p.Asp286=	coding	Benign
7	5297206	C	T	C5297206T	SLC29A4	NM_153247.3(SLC29A4):c.882+8C>T	noncoding	Benign
7	5298999	C	A	C5298999A	SLC29A4	NM_153247.3(SLC29A4):c.894C>A:p.Ala298=	coding	Benign
7	5299054	G	A	G5299054A	SLC29A4	NM_153247.3(SLC29A4):c.949G>A:p.Gly317Ser	coding	Benign
7	5299105	C	T	C5299105T	SLC29A4	NM_153247.3(SLC29A4):c.1000C>T:p.Arg334Cys	coding	Benign
7	5300595	C	A	C5300595A	SLC29A4	NM_153247.3(SLC29A4):c.1383C>A:p.Gly461=	coding	Benign
7	5309153	G	C	G5309153C	TNRC18	NM_001080495.2(TNRC18):c.8604C>G:p.Gly2868=	coding	Benign
7	5309180	G	A	G5309180A	TNRC18	NM_001080495.2(TNRC18):c.8577C>T:p.Phe2859=	coding	Benign
7	5312772	C	T	C5312772T	TNRC18	NM_001080495.2(TNRC18):c.8119G>A:p.Ala2707Thr	coding	Benign
7	5312808	C	A	C5312808A	TNRC18	NM_001080495.2(TNRC18):c.8083G>T:p.Ala2695Ser	coding	Benign
7	5312881	G	A	G5312881A	TNRC18	NM_001080495.2(TNRC18):c.8010C>T:p.Ser2670=	coding	Benign
7	5313106	G	A	G5313106A	TNRC18	NM_001080495.2(TNRC18):c.7785C>T:p.Cys2595=	coding	Benign
7	5313229	G	C	G5313229C	TNRC18	NM_001080495.2(TNRC18):c.7662C>G:p.Ala2554=	coding	Benign
7	5313307	C	A	C5313307A	TNRC18	NM_001080495.2(TNRC18):c.7584G>T:p.Glu2528Asp	coding	Benign
7	5313424	C	T	C5313424T	TNRC18	NM_001080495.2(TNRC18):c.7467G>A:p.Ala2489=	coding	Benign
7	5313818	G	C	G5313818C	TNRC18	NM_001080495.2(TNRC18):c.7073C>G:p.Pro2358Arg	coding	Benign
7	5320601	G	A	G5320601A	TNRC18	NM_001080495.2(TNRC18):c.6567C>T:p.Arg2189=	coding	Benign
7	5321183	G	C	G5321183C	TNRC18	NM_001080495.2(TNRC18):c.6450C>G:p.Arg2150=	coding	Benign
7	5332683	C	A	C5332683A	TNRC18	NM_001080495.2(TNRC18):c.6086G>T:p.Gly2029Val	coding	Benign
7	5332933	G	T	G5332933T	TNRC18	NM_001080495.2(TNRC18):c.5836C>A:p.Pro1946Thr	coding	Benign
7	5332995	G	C	G5332995C	TNRC18	NM_001080495.2(TNRC18):c.5774C>G:p.Ser1925Trp	coding	Benign
7	5351810	G	T	G5351810T	TNRC18	NM_001080495.2(TNRC18):c.5470+9C>A	noncoding	Benign
7	5357285	G	A	G5357285A	TNRC18	NM_001080495.2(TNRC18):c.4834-9C>T	noncoding	Benign
7	5359444	T	G	T5359444G	TNRC18	NM_001080495.2(TNRC18):c.4787A>C:p.Asn1596Thr	coding	Benign
7	5359476	G	T	G5359476T	TNRC18	NM_001080495.2(TNRC18):c.4755C>A:p.Ala1585=	coding	Benign
7	5362801	C	T	C5362801T	TNRC18	NM_001080495.2(TNRC18):c.4244G>A:p.Arg1415Gln	coding	Benign
7	5370547	C	T	C5370547T	TNRC18	NM_001080495.2(TNRC18):c.4047G>A:p.Ala1349=	coding	Benign
7	5370622	T	C	T5370622C	TNRC18	NM_001080495.2(TNRC18):c.3972A>G:p.Glu1324=	coding	Benign
7	5370867	G	A	G5370867A	TNRC18	NM_001080495.2(TNRC18):c.3727C>T:p.Leu1243=	coding	Benign
7	5370870	C	T	C5370870T	TNRC18	NM_001080495.2(TNRC18):c.3724G>A:p.Ala1242Thr	coding	Benign
7	5371045	G	A	G5371045A	TNRC18	NM_001080495.2(TNRC18):c.3549C>T:p.Ala1183=	coding	Benign
7	5371053	G	A	G5371053A	TNRC18	NM_001080495.2(TNRC18):c.3541C>T:p.Leu1181=	coding	Benign
7	5371066	C	G	C5371066G	TNRC18	NM_001080495.2(TNRC18):c.3528G>C:p.Glu1176Asp	coding	Benign
7	5371183	G	C	G5371183C	TNRC18	NM_001080495.2(TNRC18):c.3411C>G:p.Pro1137=	coding	Benign
7	5374308	C	T	C5374308T	TNRC18	NM_001080495.2(TNRC18):c.2976G>A:p.Pro992=	coding	Benign
7	5374386	G	A	G5374386A	TNRC18	NM_001080495.2(TNRC18):c.2898C>T:p.Ala966=	coding	Benign
7	5377539	G	A	G5377539A	TNRC18	NM_001080495.2(TNRC18):c.2293C>T:p.Pro765Ser	coding	Benign
7	5387821	C	A	C5387821A	TNRC18	NM_001080495.2(TNRC18):c.2003G>T:p.Gly668Val	coding	Benign
7	5388456	G	T	G5388456T	TNRC18	NM_001080495.2(TNRC18):c.1368C>A:p.Pro456=	coding	Benign
7	5388840	C	T	C5388840T	TNRC18	NM_001080495.2(TNRC18):c.984G>A:p.Pro328=	coding	Benign
7	5389298	G	A	G5389298A	TNRC18	NM_001080495.2(TNRC18):c.526C>T:p.Leu176=	coding	Benign
7	5389314	C	G	C5389314G	TNRC18	NM_001080495.2(TNRC18):c.510G>C:p.Ala170=	coding	Benign
7	5390605	G	A	G5390605A	TNRC18	NM_001080495.2(TNRC18):c.367C>T:p.Leu123=	coding	Benign
7	5500614	T	C	T5500614C	FBXL18	NM_024963.6(FBXL18):c.1655A>G:p.Asn552Ser	coding	Benign
7	5500919	C	T	C5500919T	FBXL18	NM_024963.6(FBXL18):c.1350G>A:p.Lys450=	coding	Benign
7	5527759	T	A	T5527759A	ACTB	NM_001101.5(ACTB):c.1117A>T:p.Lys373Ter	coding	Pathogenic
7	5527786	C	T	C5527786T	ACTB	NM_001101.5(ACTB):c.1090G>A:p.Glu364Lys	coding	Pathogenic
7	5527832	C	T	C5527832T	ACTB	NM_001101.5(ACTB):c.1044G>A:p.Ser348=	coding	Benign/Likely_benign
7	5527833	G	A	G5527833A	ACTB	NM_001101.5(ACTB):c.1043C>T:p.Ser348Leu	coding	Pathogenic/Likely_pathogenic
7	5527853	G	A	G5527853A	ACTB	NM_001101.5(ACTB):c.1023C>T:p.Ile341=	coding	Benign
7	5527856	C	A	C5527856A	ACTB	NM_001101.5(ACTB):c.1020G>T:p.Trp340Cys	coding	Pathogenic
7	5527859	C	G	C5527859G	ACTB	NM_001101.5(ACTB):c.1017G>C:p.Val339=	coding	Benign
7	5527897	G	A	G5527897A	ACTB	NM_001101.5(ACTB):c.985-6C>T	noncoding	Benign
7	5527965	C	T	C5527965T	ACTB	NM_001101.5(ACTB):c.984+39G>A	noncoding	Benign
7	5528037	G	A	G5528037A	ACTB	NM_001101.5(ACTB):c.951C>T:p.Ile317=	coding	Benign
7	5528046	C	T	C5528046T	ACTB	NM_001101.5(ACTB):c.942G>A:p.Gln314=	coding	Benign
7	5528085	G	A	G5528085A	ACTB	NM_001101.5(ACTB):c.903C>T:p.Gly301=	coding	Benign
7	5528166	G	T	G5528166T	ACTB	NM_001101.5(ACTB):c.822C>A:p.Ile274=	coding	Benign
7	5528281	C	G	C5528281G	ACTB	NM_001101.5(ACTB):c.802G>C:p.Gly268Arg	coding	Pathogenic
7	5528321	C	G	C5528321G	ACTB	NM_001101.5(ACTB):c.762G>C:p.Arg254=	coding	Benign
7	5528396	C	T	C5528396T	ACTB	NM_001101.5(ACTB):c.687G>A:p.Thr229=	coding	Benign
7	5528454	C	T	C5528454T	ACTB	NM_001101.5(ACTB):c.629G>A:p.Arg210His	coding	Pathogenic
7	5528455	G	A	G5528455A	ACTB	NM_001101.5(ACTB):c.628C>T:p.Arg210Cys	coding	Pathogenic
7	5528458	C	T	C5528458T	ACTB	NM_001101.5(ACTB):c.625G>A:p.Val209Met	coding	Pathogenic/Likely_pathogenic
7	5528467	G	A	G5528467A	ACTB	NM_001101.5(ACTB):c.616C>T:p.Arg206Trp	coding	Pathogenic
7	5528472	G	C	G5528472C	ACTB	NM_001101.5(ACTB):c.611C>G:p.Ala204Gly	coding	Pathogenic
7	5528474	C	G	C5528474G	ACTB	NM_001101.5(ACTB):c.609G>C:p.Thr203=	coding	Benign
7	5528496	C	T	C5528496T	ACTB	NM_001101.5(ACTB):c.587G>A:p.Arg196His	coding	Pathogenic
7	5528497	G	A	G5528497A	ACTB	NM_001101.5(ACTB):c.586C>T:p.Arg196Cys	coding	Pathogenic/Likely_pathogenic
7	5528497	G	T	G5528497T	ACTB	NM_001101.5(ACTB):c.586C>A:p.Arg196Ser	coding	Pathogenic
7	5528536	G	A	G5528536A	ACTB	NM_001101.5(ACTB):c.547C>T:p.Arg183Trp	coding	Pathogenic
7	5528546	G	C	G5528546C	ACTB	NM_001101.5(ACTB):c.537C>G:p.Asp179Glu	coding	Pathogenic
7	5528630	G	A	G5528630A	ACTB	NM_001101.5(ACTB):c.453C>T:p.Ile151=	coding	Benign
7	5528637	G	A	G5528637A	ACTB	NM_001101.5(ACTB):c.446C>T:p.Thr149Ile	coding	Pathogenic
7	5528657	C	A	C5528657A	ACTB	NM_001101.5(ACTB):c.426G>T:p.Leu142=	coding	Benign
7	5528663	T	C	T5528663C	ACTB	NM_001101.5(ACTB):c.420A>G:p.Leu140=	coding	Benign
7	5528735	A	G	A5528735G	ACTB	NM_001101.5(ACTB):c.364-16T>C	noncoding	Benign
7	5529145	G	A	G5529145A	ACTB	NM_001101.5(ACTB):c.363+16C>T	noncoding	Benign/Likely_benign
7	5529165	G	A	G5529165A	ACTB	NM_001101.5(ACTB):c.359C>T:p.Thr120Ile	coding	Pathogenic
7	5529168	A	G	A5529168G	ACTB	NM_001101.5(ACTB):c.356T>C:p.Met119Thr	coding	Pathogenic
7	5529173	C	A	C5529173A	ACTB	NM_001101.5(ACTB):c.351G>T:p.Glu117Asp	coding	Pathogenic
7	5529174	T	A	T5529174A	ACTB	NM_001101.5(ACTB):c.350A>T:p.Glu117Val	coding	Pathogenic
7	5529175	C	T	C5529175T	ACTB	NM_001101.5(ACTB):c.349G>A:p.Glu117Lys	coding	Pathogenic
7	5529265	G	C	G5529265C	ACTB	NM_001101.5(ACTB):c.259C>G:p.His87Asp	coding	Pathogenic
7	5529331	G	A	G5529331A	ACTB	NM_001101.5(ACTB):c.193C>T:p.Leu65Phe	coding	Pathogenic
7	5529331	G	C	G5529331C	ACTB	NM_001101.5(ACTB):c.193C>G:p.Leu65Val	coding	Pathogenic
7	5529356	G	A	G5529356A	ACTB	NM_001101.5(ACTB):c.168C>T:p.Asp56=	coding	Benign
7	5529404	G	A	G5529404A	ACTB	NM_001101.5(ACTB):c.124-4C>T	noncoding	Benign/Likely_benign
7	5529407	A	T	A5529407T	ACTB	NM_001101.5(ACTB):c.124-7T>A	noncoding	Benign
7	5529624	T	C	T5529624C	ACTB	NM_001101.5(ACTB):c.34A>G:p.Asn12Asp	coding	Pathogenic
7	5529624	T	G	T5529624G	ACTB	NM_001101.5(ACTB):c.34A>C:p.Asn12His	coding	Pathogenic
7	5529667	C	A	C5529667A	ACTB	NM_001101.5(ACTB):c.-6-4G>T	noncoding	Benign
7	5529696	G	A	G5529696A	ACTB	NM_001101.5(ACTB):c.-6-33C>T	noncoding	Benign
7	5530567	C	G	C5530567G	ACTB	NM_001101.5(ACTB):c.-50G>C	noncoding	Benign
7	5623094	C	T	C5623094T	RNF216	NM_207111.4(RNF216):c.2538G>A:p.Pro846=	coding	Benign
7	5641285	G	A	G5641285A	RNF216	NM_207111.4(RNF216):c.2251C>T:p.Arg751Cys	coding	Pathogenic
7	5711812	C	A	C5711812A	RNF216	NM_207111.4(RNF216):c.2010G>T:p.Leu670=	coding	Benign
7	5712801	C	T	C5712801T	RNF216	NM_207111.4(RNF216):c.1896G>A:p.Lys632=	coding	Benign
7	5715095	A	T	A5715095T	RNF216	NM_207111.4(RNF216):c.1791T>A:p.Cys597Ter	coding	Pathogenic
7	5721061	T	C	T5721061C	RNF216	NM_207111.4(RNF216):c.1616A>G:p.Tyr539Cys	coding	Pathogenic
7	5725403	C	T	C5725403T	RNF216	NM_207111.4(RNF216):c.1425G>A:p.Leu475=	coding	Benign
7	5729454	C	T	C5729454T	RNF216	NM_207111.4(RNF216):c.1367G>A:p.Gly456Glu	coding	Pathogenic
7	5741113	G	A	G5741113A	RNF216	NM_207111.4(RNF216):c.904C>T:p.Gln302Ter	coding	Pathogenic
7	5741201	G	A	G5741201A	RNF216	NM_207111.4(RNF216):c.816C>T:p.Pro272=	coding	Benign
7	5741330	C	T	C5741330T	RNF216	NM_207111.4(RNF216):c.687G>A:p.Trp229Ter	coding	Pathogenic
7	5741572	T	G	T5741572G	RNF216	NM_207111.4(RNF216):c.445A>C:p.Ser149Arg	coding	Benign/Likely_benign
7	5741672	G	A	G5741672A	RNF216	NM_207111.4(RNF216):c.345C>T:p.Asn115=	coding	Benign
7	5741816	C	G	C5741816G	RNF216	NM_207111.4(RNF216):c.202-1G>C	coding	Pathogenic
7	5752870	C	T	C5752870T	RNF216	NM_207111.4(RNF216):c.177G>A:p.Leu59=	coding	Benign
7	5752898	G	C	G5752898C	RNF216	NM_207111.4(RNF216):c.149C>G:p.Ala50Gly	coding	Benign
7	5919854	G	A	G5919854A	CCZ1	NM_015622.6(CCZ1):c.994G>A:p.Val332Ile	coding	Benign
7	5925627	T	C	T5925627C	CCZ1	NM_015622.6(CCZ1):c.1394-5T>C	noncoding	Benign
7	5973382	C	G	C5973382G	PMS2	NM_000535.7(PMS2):c.*17G>C	noncoding	Benign
7	5973418	C	G	C5973418G	PMS2	NM_000535.7(PMS2):c.2570G>C:p.Gly857Ala	coding	Benign
7	5973452	C	A	C5973452A	PMS2	NM_000535.7(PMS2):c.2536G>T:p.Gly846Ter	coding	Pathogenic
7	5973466	C	T	C5973466T	PMS2	NM_000535.7(PMS2):c.2522G>A:p.Trp841Ter	coding	Pathogenic/Likely_pathogenic
7	5973482	C	A	C5973482A	PMS2	NM_000535.7(PMS2):c.2506G>T:p.Glu836Ter	coding	Pathogenic/Likely_pathogenic
7	5973522	A	G	A5973522G	PMS2	NM_000535.7(PMS2):c.2466T>C:p.Leu822=	coding	Benign
7	5973543	C	T	C5973543T	PMS2	NM_000535.7(PMS2):c.2446-1G>A	coding	Pathogenic
7	5977558	T	C	T5977558C	PMS2	NM_000535.7(PMS2):c.2445+30A>G	noncoding	Benign
7	5977587	C	A	C5977587A	PMS2	NM_000535.7(PMS2):c.2445+1G>T	noncoding	Pathogenic
7	5977620	G	A	G5977620A	PMS2	NM_000535.7(PMS2):c.2413C>T:p.Gln805Ter	coding	Pathogenic
7	5977629	G	A	G5977629A	PMS2	NM_000535.7(PMS2):c.2404C>T:p.Arg802Ter	coding	Pathogenic
7	5977680	C	A	C5977680A	PMS2	NM_000535.7(PMS2):c.2353G>T:p.Glu785Ter	coding	Pathogenic
7	5977693	G	A	G5977693A	PMS2	NM_000535.7(PMS2):c.2340C>T:p.Pro780=	coding	Benign
7	5977709	T	C	T5977709C	PMS2	NM_000535.7(PMS2):c.2324A>G:p.Asn775Ser	coding	Benign
7	5977737	T	A	T5977737A	PMS2	NM_000535.7(PMS2):c.2296A>T:p.Lys766Ter	coding	Pathogenic
7	5978595	C	T	C5978595T	PMS2	NM_000535.7(PMS2):c.2275+1G>A	noncoding	Pathogenic
7	5978602	C	A	C5978602A	PMS2	NM_000535.7(PMS2):c.2269G>T:p.Glu757Ter	coding	Pathogenic
7	5978618	A	G	A5978618G	PMS2	NM_000535.7(PMS2):c.2253T>C:p.Phe751=	coding	Benign
7	5978632	T	A	T5978632A	PMS2	NM_000535.7(PMS2):c.2239A>T:p.Arg747Ter	coding	Pathogenic
7	5978679	A	C	A5978679C	PMS2	NM_000535.7(PMS2):c.2192T>G:p.Leu731Ter	coding	Pathogenic
7	5978679	A	T	A5978679T	PMS2	NM_000535.7(PMS2):c.2192T>A:p.Leu731Ter	coding	Pathogenic
7	5978689	T	C	T5978689C	PMS2	NM_000535.7(PMS2):c.2182A>G:p.Thr728Ala	coding	Benign/Likely_benign
7	5982823	C	T	C5982823T	PMS2	NM_000535.7(PMS2):c.2174+1G>A	noncoding	Pathogenic
7	5982838	C	T	C5982838T	PMS2	NM_000535.7(PMS2):c.2160G>A:p.Gly720=	coding	Benign/Likely_benign
7	5982843	G	A	G5982843A	PMS2	NM_000535.7(PMS2):c.2155C>T:p.Gln719Ter	coding	Pathogenic
7	5982858	G	A	G5982858A	PMS2	NM_000535.7(PMS2):c.2140C>T:p.Gln714Ter	coding	Pathogenic
7	5982861	G	A	G5982861A	PMS2	NM_000535.7(PMS2):c.2137C>T:p.Gln713Ter	coding	Pathogenic
7	5982885	C	A	C5982885A	PMS2	NM_000535.7(PMS2):c.2113G>T:p.Glu705Ter	coding	Pathogenic
7	5982885	C	T	C5982885T	PMS2	NM_000535.7(PMS2):c.2113G>A:p.Glu705Lys	coding	Pathogenic/Likely_pathogenic
7	5982957	G	A	G5982957A	PMS2	NM_000535.7(PMS2):c.2041C>T:p.Gln681Ter	coding	Pathogenic
7	5982975	C	A	C5982975A	PMS2	NM_000535.7(PMS2):c.2023G>T:p.Glu675Ter	coding	Pathogenic
7	5982993	T	G	T5982993G	PMS2	NM_000535.7(PMS2):c.2007-2A>C	noncoding	Pathogenic/Likely_pathogenic
7	5982995	C	T	C5982995T	PMS2	NM_000535.7(PMS2):c.2007-4G>A	noncoding	Benign
7	5982998	G	A	G5982998A	PMS2	NM_000535.7(PMS2):c.2007-7C>T	noncoding	Benign
7	5983007	G	A	G5983007A	PMS2	NM_000535.7(PMS2):c.2007-16C>T	noncoding	Benign
7	5986753	C	T	C5986753T	PMS2	NM_000535.7(PMS2):c.2006+6G>A	noncoding	Benign
7	5986778	C	A	C5986778A	PMS2	NM_000535.7(PMS2):c.1987G>T:p.Glu663Ter	coding	Pathogenic
7	5986784	C	A	C5986784A	PMS2	NM_000535.7(PMS2):c.1981G>T:p.Glu661Ter	coding	Pathogenic
7	5986806	A	T	A5986806T	PMS2	NM_000535.7(PMS2):c.1959T>A:p.Cys653Ter	coding	Pathogenic
7	5986826	T	A	T5986826A	PMS2	NM_000535.7(PMS2):c.1939A>T:p.Lys647Ter	coding	Pathogenic
7	5986838	G	A	G5986838A	PMS2	NM_000535.7(PMS2):c.1927C>T:p.Gln643Ter	coding	Pathogenic
7	5986853	G	A	G5986853A	PMS2	NM_000535.7(PMS2):c.1912C>T:p.Gln638Ter	coding	Pathogenic
7	5986856	G	A	G5986856A	PMS2	NM_000535.7(PMS2):c.1909C>T:p.Gln637Ter	coding	Pathogenic/Likely_pathogenic
7	5986874	G	A	G5986874A	PMS2	NM_000535.7(PMS2):c.1891C>T:p.Gln631Ter	coding	Pathogenic
7	5986883	G	A	G5986883A	PMS2	NM_000535.7(PMS2):c.1882C>T:p.Arg628Ter	coding	Pathogenic
7	5986899	C	T	C5986899T	PMS2	NM_000535.7(PMS2):c.1866G>A:p.Met622Ile	coding	Benign
7	5986925	T	A	T5986925A	PMS2	NM_000535.7(PMS2):c.1840A>T:p.Lys614Ter	coding	Pathogenic
7	5986955	G	A	G5986955A	PMS2	NM_000535.7(PMS2):c.1810C>T:p.Gln604Ter	coding	Pathogenic
7	5986959	G	C	G5986959C	PMS2	NM_000535.7(PMS2):c.1806C>G:p.Ala602=	coding	Benign/Likely_benign
7	5986963	G	C	G5986963C	PMS2	NM_000535.7(PMS2):c.1802C>G:p.Ser601Ter	coding	Pathogenic
7	5986973	G	A	G5986973A	PMS2	NM_000535.7(PMS2):c.1792C>T:p.Gln598Ter	coding	Pathogenic
7	5986976	T	A	T5986976A	PMS2	NM_000535.7(PMS2):c.1789A>T:p.Thr597Ser	coding	Benign
7	5987027	T	A	T5987027A	PMS2	NM_000535.7(PMS2):c.1738A>T:p.Lys580Ter	coding	Pathogenic
7	5987066	G	A	G5987066A	PMS2	NM_000535.7(PMS2):c.1699C>T:p.Gln567Ter	coding	Pathogenic
7	5987078	G	A	G5987078A	PMS2	NM_000535.7(PMS2):c.1687C>T:p.Arg563Ter	coding	Pathogenic
7	5987109	A	G	A5987109G	PMS2	NM_000535.7(PMS2):c.1656T>C:p.His552=	coding	Benign/Likely_benign
7	5987112	G	T	G5987112T	PMS2	NM_000535.7(PMS2):c.1653C>A:p.Cys551Ter	coding	Pathogenic
7	5987136	G	A	G5987136A	PMS2	NM_000535.7(PMS2):c.1629C>T:p.Asp543=	coding	Benign/Likely_benign
7	5987143	T	C	T5987143C	PMS2	NM_000535.7(PMS2):c.1622A>G:p.Lys541Arg	coding	Benign
7	5987144	T	C	T5987144C	PMS2	NM_000535.7(PMS2):c.1621A>G:p.Lys541Glu	coding	Benign
7	5987156	C	T	C5987156T	PMS2	NM_000535.7(PMS2):c.1609G>A:p.Glu537Lys	coding	Benign/Likely_benign
7	5987159	G	A	G5987159A	PMS2	NM_000535.7(PMS2):c.1606C>T:p.Gln536Ter	coding	Pathogenic
7	5987174	C	A	C5987174A	PMS2	NM_000535.7(PMS2):c.1591G>T:p.Glu531Ter	coding	Pathogenic
7	5987208	A	G	A5987208G	PMS2	NM_000535.7(PMS2):c.1557T>C:p.Tyr519=	coding	Benign/Likely_benign
7	5987232	C	T	C5987232T	PMS2	NM_000535.7(PMS2):c.1533G>A:p.Thr511=	coding	Benign/Likely_benign
7	5987233	G	A	G5987233A	PMS2	NM_000535.7(PMS2):c.1532C>T:p.Thr511Met	coding	Benign
7	5987234	T	C	T5987234C	PMS2	NM_000535.7(PMS2):c.1531A>G:p.Thr511Ala	coding	Benign
7	5987277	G	A	G5987277A	PMS2	NM_000535.7(PMS2):c.1488C>T:p.His496=	coding	Benign
7	5987284	G	T	G5987284T	PMS2	NM_000535.7(PMS2):c.1481C>A:p.Ser494Ter	coding	Pathogenic
7	5987294	C	A	C5987294A	PMS2	NM_000535.7(PMS2):c.1471G>T:p.Glu491Ter	coding	Pathogenic/Likely_pathogenic
7	5987298	C	T	C5987298T	PMS2	NM_000535.7(PMS2):c.1467G>A:p.Glu489=	coding	Benign/Likely_benign
7	5987311	G	T	G5987311T	PMS2	NM_000535.7(PMS2):c.1454C>A:p.Thr485Lys	coding	Benign
7	5987354	G	A	G5987354A	PMS2	NM_000535.7(PMS2):c.1411C>T:p.Gln471Ter	coding	Pathogenic
7	5987357	G	A	G5987357A	PMS2	NM_000535.7(PMS2):c.1408C>T:p.Pro470Ser	coding	Benign
7	5987367	G	A	G5987367A	PMS2	NM_000535.7(PMS2):c.1398C>T:p.Gly466=	coding	Benign/Likely_benign
7	5987389	G	C	G5987389C	PMS2	NM_000535.7(PMS2):c.1376C>G:p.Ser459Ter	coding	Pathogenic
7	5987389	G	T	G5987389T	PMS2	NM_000535.7(PMS2):c.1376C>A:p.Ser459Ter	coding	Pathogenic
7	5987417	T	A	T5987417A	PMS2	NM_000535.7(PMS2):c.1348A>T:p.Lys450Ter	coding	Pathogenic
7	5987420	G	A	G5987420A	PMS2	NM_000535.7(PMS2):c.1345C>T:p.Gln449Ter	coding	Pathogenic
7	5987445	T	C	T5987445C	PMS2	NM_000535.7(PMS2):c.1320A>G:p.Pro440=	coding	Benign/Likely_benign
7	5987468	T	A	T5987468A	PMS2	NM_000535.7(PMS2):c.1297A>T:p.Lys433Ter	coding	Pathogenic
7	5987485	C	T	C5987485T	PMS2	NM_000535.7(PMS2):c.1280G>A:p.Arg427His	coding	Benign/Likely_benign
7	5987499	C	T	C5987499T	PMS2	NM_000535.7(PMS2):c.1266G>A:p.Glu422=	coding	Benign/Likely_benign
7	5987501	C	A	C5987501A	PMS2	NM_000535.7(PMS2):c.1264G>T:p.Glu422Ter	coding	Pathogenic
7	5987504	G	A	G5987504A	PMS2	NM_000535.7(PMS2):c.1261C>T:p.Arg421Ter	coding	Pathogenic
7	5987517	G	T	G5987517T	PMS2	NM_000535.7(PMS2):c.1248C>A:p.Ser416=	coding	Benign/Likely_benign
7	5987523	G	A	G5987523A	PMS2	NM_000535.7(PMS2):c.1242C>T:p.Asp414=	coding	Benign/Likely_benign
7	5987556	G	A	G5987556A	PMS2	NM_000535.7(PMS2):c.1209C>T:p.Ser403=	coding	Benign/Likely_benign
7	5987567	G	A	G5987567A	PMS2	NM_000535.7(PMS2):c.1198C>T:p.Gln400Ter	coding	Pathogenic
7	5987588	C	A	C5987588A	PMS2	NM_000535.7(PMS2):c.1177G>T:p.Glu393Ter	coding	Pathogenic
7	5987614	A	C	A5987614C	PMS2	NM_000535.7(PMS2):c.1151T>G:p.Leu384Ter	coding	Pathogenic
7	5987636	C	A	C5987636A	PMS2	NM_000535.7(PMS2):c.1145-16G>T	noncoding	Benign/Likely_benign
7	5987637	G	A	G5987637A	PMS2	NM_000535.7(PMS2):c.1145-17C>T	noncoding	Benign/Likely_benign
7	5989799	C	T	C5989799T	PMS2	NM_000535.7(PMS2):c.1144+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	5989821	G	A	G5989821A	PMS2	NM_000535.7(PMS2):c.1123C>T:p.Gln375Ter	coding	Pathogenic
7	5989824	G	A	G5989824A	PMS2	NM_000535.7(PMS2):c.1120C>T:p.Gln374Ter	coding	Pathogenic/Likely_pathogenic
7	5989880	A	C	A5989880C	PMS2	NM_000535.7(PMS2):c.1064T>G:p.Leu355Ter	coding	Pathogenic
7	5989903	C	T	C5989903T	PMS2	NM_000535.7(PMS2):c.1041G>A:p.Glu347=	coding	Benign/Likely_benign
7	5989908	G	A	G5989908A	PMS2	NM_000535.7(PMS2):c.1036C>T:p.Gln346Ter	coding	Pathogenic
7	5989951	G	A	G5989951A	PMS2	NM_000535.7(PMS2):c.993C>T:p.Cys331=	coding	Benign/Likely_benign
7	5989956	C	A	C5989956A	PMS2	NM_000535.7(PMS2):c.989-1G>T	coding	Pathogenic
7	5991975	G	C	G5991975C	PMS2	NM_000535.7(PMS2):c.986C>G:p.Ser329Ter	coding	Pathogenic
7	5992012	G	A	G5992012A	PMS2	NM_000535.7(PMS2):c.949C>T:p.Gln317Ter	coding	Pathogenic
7	5992018	G	A	G5992018A	PMS2	NM_000535.7(PMS2):c.943C>T:p.Arg315Ter	coding	Pathogenic
7	5992022	A	C	A5992022C	PMS2	NM_000535.7(PMS2):c.939T>G:p.Tyr313Ter	coding	Pathogenic
7	5992022	A	T	A5992022T	PMS2	NM_000535.7(PMS2):c.939T>A:p.Tyr313Ter	coding	Pathogenic
7	5992059	T	C	T5992059C	PMS2	NM_000535.7(PMS2):c.904-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	5995390	C	A	C5995390A	PMS2	NM_000535.7(PMS2):c.903+144G>T	noncoding	Benign
7	5995434	A	C	A5995434C	PMS2	NM_000535.7(PMS2):c.903+100T>G	noncoding	Benign
7	5995450	G	A	G5995450A	PMS2	NM_000535.7(PMS2):c.903+84C>T	noncoding	Benign
7	5995530	A	T	A5995530T	PMS2	NM_000535.7(PMS2):c.903+4T>A	noncoding	Benign/Likely_benign
7	5995575	G	A	G5995575A	PMS2	NM_000535.7(PMS2):c.862C>T:p.Gln288Ter	coding	Pathogenic
7	5995586	G	C	G5995586C	PMS2	NM_000535.7(PMS2):c.851C>G:p.Ser284Ter	coding	Pathogenic
7	5995606	C	T	C5995606T	PMS2	NM_000535.7(PMS2):c.831G>A:p.Thr277=	coding	Benign/Likely_benign
7	5995609	G	T	G5995609T	PMS2	NM_000535.7(PMS2):c.828C>A:p.Cys276Ter	coding	Pathogenic
7	5995614	G	A	G5995614A	PMS2	NM_000535.7(PMS2):c.823C>T:p.Gln275Ter	coding	Pathogenic
7	5995628	G	C	G5995628C	PMS2	NM_000535.7(PMS2):c.809C>G:p.Ser270Ter	coding	Pathogenic
7	5995635	T	C	T5995635C	PMS2	NM_000535.7(PMS2):c.804-2A>G	noncoding	Pathogenic
7	5995876	C	T	C5995876T	PMS2	NM_000535.7(PMS2):c.804-243G>A	noncoding	Benign
7	5997349	G	C	G5997349C	PMS2	NM_000535.7(PMS2):c.780C>G:p.Ser260=	coding	Benign
7	5997349	G	T	G5997349T	PMS2	NM_000535.7(PMS2):c.780C>A:p.Ser260=	coding	Benign/Likely_benign
7	5997364	G	A	G5997364A	PMS2	NM_000535.7(PMS2):c.765C>T:p.Tyr255=	coding	Benign/Likely_benign
7	5997364	G	T	G5997364T	PMS2	NM_000535.7(PMS2):c.765C>A:p.Tyr255Ter	coding	Pathogenic
7	5997399	G	A	G5997399A	PMS2	NM_000535.7(PMS2):c.730C>T:p.Gln244Ter	coding	Pathogenic
7	5997420	G	A	G5997420A	PMS2	NM_000535.7(PMS2):c.709C>T:p.Gln237Ter	coding	Pathogenic/Likely_pathogenic
7	5997436	A	G	A5997436G	PMS2	NM_000535.7(PMS2):c.706-13T>C	noncoding	Benign/Likely_benign
7	5999072	G	A	G5999072A	PMS2	NM_000535.7(PMS2):c.705+36C>T	noncoding	Benign
7	5999091	T	C	T5999091C	PMS2	NM_000535.7(PMS2):c.705+17A>G	noncoding	Benign
7	5999096	G	A	G5999096A	PMS2	NM_000535.7(PMS2):c.705+12C>T	noncoding	Benign/Likely_benign
7	5999110	G	A	G5999110A	PMS2	NM_000535.7(PMS2):c.703C>T:p.Gln235Ter	coding	Pathogenic
7	5999116	G	A	G5999116A	PMS2	NM_000535.7(PMS2):c.697C>T:p.Gln233Ter	coding	Pathogenic
7	5999158	C	A	C5999158A	PMS2	NM_000535.7(PMS2):c.655G>T:p.Gly219Ter	coding	Pathogenic
7	5999165	G	T	G5999165T	PMS2	NM_000535.7(PMS2):c.648C>A:p.Cys216Ter	coding	Pathogenic
7	5999179	G	A	G5999179A	PMS2	NM_000535.7(PMS2):c.634C>T:p.Gln212Ter	coding	Pathogenic
7	5999182	G	A	G5999182A	PMS2	NM_000535.7(PMS2):c.631C>T:p.Arg211Ter	coding	Pathogenic
7	5999200	G	A	G5999200A	PMS2	NM_000535.7(PMS2):c.613C>T:p.Gln205Ter	coding	Pathogenic
7	5999240	G	C	G5999240C	PMS2	NM_000535.7(PMS2):c.573C>G:p.Tyr191Ter	coding	Pathogenic
7	5999276	C	G	C5999276G	PMS2	NM_000535.7(PMS2):c.538-1G>C	coding	Pathogenic/Likely_pathogenic
7	5999277	T	C	T5999277C	PMS2	NM_000535.7(PMS2):c.538-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	5999498	T	C	T5999498C	PMS2	NM_000535.7(PMS2):c.538-223A>G	noncoding	Benign
7	6002436	G	A	G6002436A	PMS2	NM_000535.7(PMS2):c.537+17C>T	noncoding	Benign/Likely_benign
7	6002455	T	A	T6002455A	PMS2	NM_000535.7(PMS2):c.535A>T:p.Lys179Ter	coding	Pathogenic
7	6002470	G	A	G6002470A	PMS2	NM_000535.7(PMS2):c.520C>T:p.Gln174Ter	coding	Pathogenic
7	6002505	A	T	A6002505T	PMS2	NM_000535.7(PMS2):c.485T>A:p.Leu162Ter	coding	Pathogenic
7	6002512	G	A	G6002512A	PMS2	NM_000535.7(PMS2):c.478C>T:p.Gln160Ter	coding	Pathogenic
7	6002513	C	T	C6002513T	PMS2	NM_000535.7(PMS2):c.477G>A:p.Val159=	coding	Benign/Likely_benign
7	6002543	G	T	G6002543T	PMS2	NM_000535.7(PMS2):c.447C>A:p.Tyr149Ter	coding	Pathogenic
7	6002590	G	A	G6002590A	PMS2	NM_000535.7(PMS2):c.400C>T:p.Arg134Ter	coding	Pathogenic
7	6002607	G	T	G6002607T	PMS2	NM_000535.7(PMS2):c.383C>A:p.Ser128Ter	coding	Pathogenic
7	6002637	C	T	C6002637T	PMS2	NM_000535.7(PMS2):c.354-1G>A	coding	Pathogenic
7	6002638	T	C	T6002638C	PMS2	NM_000535.7(PMS2):c.354-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	6003681	T	G	T6003681G	PMS2	NM_000535.7(PMS2):c.353+9A>C	noncoding	Benign/Likely_benign
7	6003744	T	C	T6003744C	PMS2	NM_000535.7(PMS2):c.299A>G:p.Gln100Arg	coding	Benign
7	6003755	G	A	G6003755A	PMS2	NM_000535.7(PMS2):c.288C>T:p.Ala96=	coding	Benign
7	6003788	C	T	C6003788T	PMS2	NM_000535.7(PMS2):c.255G>A:p.Leu85=	coding	Benign/Likely_benign
7	6003794	T	A	T6003794A	PMS2	NM_000535.7(PMS2):c.251-2A>T	noncoding	Pathogenic/Likely_pathogenic
7	6003794	T	G	T6003794G	PMS2	NM_000535.7(PMS2):c.251-2A>C	noncoding	Pathogenic/Likely_pathogenic
7	6003804	T	G	T6003804G	PMS2	NM_000535.7(PMS2):c.251-12A>C	noncoding	Benign/Likely_benign
7	6003812	A	C	A6003812C	PMS2	NM_000535.7(PMS2):c.251-20T>G	noncoding	Benign/Likely_benign
7	6003864	T	C	T6003864C	PMS2	NM_000535.7(PMS2):c.251-72A>G	noncoding	Benign
7	6003964	C	T	C6003964T	PMS2	NM_000535.7(PMS2):c.250+8G>A	noncoding	Benign/Likely_benign
7	6003974	A	C	A6003974C	PMS2	NM_000535.7(PMS2):c.248T>G:p.Leu83Ter	coding	Pathogenic
7	6003981	C	A	C6003981A	PMS2	NM_000535.7(PMS2):c.241G>T:p.Glu81Ter	coding	Pathogenic/Likely_pathogenic
7	6003982	G	A	G6003982A	PMS2	NM_000535.7(PMS2):c.240C>T:p.Phe80=	coding	Benign/Likely_benign
7	6004003	A	T	A6004003T	PMS2	NM_000535.7(PMS2):c.219T>A:p.Cys73Ter	coding	Pathogenic
7	6004016	G	T	G6004016T	PMS2	NM_000535.7(PMS2):c.206C>A:p.Ser69Ter	coding	Pathogenic
7	6004166	C	G	C6004166G	PMS2	NM_000535.7(PMS2):c.164-108G>C	noncoding	Benign
7	6005918	C	T	C6005918T	PMS2	NM_000535.7(PMS2):c.137G>A:p.Ser46Asn	coding	Pathogenic/Likely_pathogenic
7	6005934	C	A	C6005934A	PMS2	NM_000535.7(PMS2):c.121G>T:p.Glu41Ter	coding	Pathogenic
7	6005967	G	A	G6005967A	PMS2	NM_000535.7(PMS2):c.88C>T:p.Gln30Ter	coding	Pathogenic
7	6005982	G	A	G6005982A	PMS2	NM_000535.7(PMS2):c.73C>T:p.Gln25Ter	coding	Pathogenic
7	6005990	G	C	G6005990C	PMS2	NM_000535.7(PMS2):c.65C>G:p.Ser22Ter	coding	Pathogenic
7	6005990	G	T	G6005990T	PMS2	NM_000535.7(PMS2):c.65C>A:p.Ser22Ter	coding	Pathogenic
7	6005996	C	T	C6005996T	PMS2	NM_000535.7(PMS2):c.59G>A:p.Arg20Gln	coding	Benign
7	6006033	T	G	T6006033G	PMS2	NM_000535.7(PMS2):c.24-2A>C	noncoding	Pathogenic
7	6008987	C	G	C6008987G	PMS2	NM_000535.7(PMS2):c.23+10G>C	noncoding	Benign/Likely_benign
7	6008996	C	A	C6008996A	PMS2	NM_000535.7(PMS2):c.23+1G>T	noncoding	Pathogenic/Likely_pathogenic
7	6009003	C	G	C6009003G	PMS2	NM_000535.7(PMS2):c.17G>C:p.Ser6Thr	coding	Benign
7	6009013	G	A	G6009013A	PMS2	NM_000535.7(PMS2):c.7C>T:p.Arg3Ter	coding	Pathogenic
7	6009017	C	G	C6009017G	PMS2	NM_000535.7(PMS2):c.3G>C:p.Met1Ile	coding	Pathogenic
7	6009017	C	T	C6009017T	PMS2	NM_000535.7(PMS2):c.3G>A:p.Met1Ile	coding	Pathogenic
7	6009018	A	C	A6009018C	PMS2	NM_000535.7(PMS2):c.2T>G:p.Met1Arg	coding	Pathogenic
7	6009018	A	G	A6009018G	PMS2	NM_000535.7(PMS2):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
7	6009019	T	A	T6009019A	PMS2	NM_000535.7(PMS2):c.1A>T:p.Met1Leu	coding	Pathogenic
7	6009019	T	G	T6009019G	PMS2	NM_000535.7(PMS2):c.1A>C:p.Met1Leu	coding	Pathogenic
7	6009037	C	G	C6009037G	PMS2	NM_000535.7(PMS2):c.-18G>C	noncoding	Benign/Likely_benign
7	6009052	G	A	G6009052A	PMS2	NM_001322007.1(PMS2):c.-248C>T	noncoding	Benign
7	6009072	C	T	C6009072T	PMS2	NM_001322007.1(PMS2):c.-268G>A	noncoding	Benign
7	6009112	C	T	C6009112T	PMS2	NM_000535.6(PMS2):c.-93G>A	noncoding	Benign
7	6009173	G	C	G6009173C	PMS2	NM_000535.6(PMS2):c.-154C>G	noncoding	Benign
7	6009214	A	G	A6009214G	PMS2	NM_000535.6(PMS2):c.-195T>C	noncoding	Benign
7	6009342	C	A	C6009342A	PMS2	NM_006303.4(AIMP2):c.-22C>A	noncoding	Benign
7	6009438	C	A	C6009438A	AIMP2	NM_006303.4(AIMP2):c.75C>A:p.Tyr25Ter	coding	Pathogenic
7	6011165	G	T	G6011165T	PMS2	NM_006303.4(AIMP2):c.135+1667G>T	noncoding	Benign
7	6011578	A	T	A6011578T	PMS2	NM_006303.4(AIMP2):c.135+2080A>T	noncoding	Benign
7	6015223	T	A	T6015223A	AIMP2	NM_006303.4(AIMP2):c.213T>A:p.Ala71=	coding	Benign
7	6015280	C	T	C6015280T	AIMP2	NM_006303.4(AIMP2):c.270C>T:p.Thr90=	coding	Benign
7	6017933	G	T	G6017933T	AIMP2	NM_006303.4(AIMP2):c.462G>T:p.Thr154=	coding	Benign
7	6017967	C	A	C6017967A	AIMP2	NM_006303.4(AIMP2):c.496C>A:p.Leu166Ile	coding	Benign
7	6023301	A	G	A6023301G	AIMP2	NM_006303.4(AIMP2):c.575-2A>G	coding	Pathogenic
7	6038600	C	T	C6038600T	EIF2AK1	NM_014413.4(EIF2AK1):c.1191G>A:p.Glu397=	coding	Benign
7	6038617	A	G	A6038617G	EIF2AK1	NM_014413.4(EIF2AK1):c.1174T>C:p.Trp392Arg	coding	Benign
7	6049922	C	T	C6049922T	EIF2AK1	NM_014413.4(EIF2AK1):c.401G>A:p.Arg134Lys	coding	Benign
7	6150080	T	A	T6150080A	USP42	NM_032172.3(USP42):c.1884T>A:p.Ile628=	coding	Benign
7	6387229	G	A	G6387229A	RAC1	NM_006908.5(RAC1):c.53G>A:p.Cys18Tyr	coding	Pathogenic
7	6387251	C	G	C6387251G	RAC1	NM_006908.5(RAC1):c.75C>G:p.Thr25=	coding	Benign
7	6391932	A	G	A6391932G	RAC1	NM_006908.5(RAC1):c.116A>G:p.Asn39Ser	coding	Pathogenic/Likely_pathogenic
7	6391967	G	A	G6391967A	RAC1	NM_006908.5(RAC1):c.151G>A:p.Val51Met	coding	Pathogenic
7	6391967	G	C	G6391967C	RAC1	NM_006908.5(RAC1):c.151G>C:p.Val51Leu	coding	Pathogenic
7	6392006	T	G	T6392006G	RAC1	NM_006908.5(RAC1):c.190T>G:p.Tyr64Asp	coding	Pathogenic
7	6402341	G	A	G6402341A	RAC1	NM_006908.5(RAC1):c.474G>A:p.Ser158=	coding	Benign
7	6402362	C	G	C6402362G	RAC1	NM_006908.5(RAC1):c.495C>G:p.Leu165=	coding	Benign
7	6402377	C	T	C6402377T	RAC1	NM_006908.5(RAC1):c.510C>T:p.Asp170=	coding	Benign
7	6409881	C	T	C6409881T	DAGLB	NM_139179.4(DAGLB):c.1975G>A:p.Val659Ile	coding	Benign
7	6409890	C	T	C6409890T	DAGLB	NM_139179.4(DAGLB):c.1966G>A:p.Ala656Thr	coding	Benign
7	6409960	A	G	A6409960G	DAGLB	NM_139179.4(DAGLB):c.1896T>C:p.Gly632=	coding	Benign
7	6410163	A	G	A6410163G	DAGLB	NM_139179.4(DAGLB):c.1787T>C:p.Ile596Thr	coding	Benign
7	6410389	G	A	G6410389A	DAGLB	NM_139179.4(DAGLB):c.1570-9C>T	noncoding	Benign
7	6416703	G	A	G6416703A	DAGLB	NM_139179.4(DAGLB):c.1351C>T:p.Leu451=	coding	Benign
7	6432927	C	T	C6432927T	DAGLB	NM_139179.4(DAGLB):c.711G>A:p.Ala237=	coding	Benign
7	6436388	G	A	G6436388A	DAGLB	NM_139179.4(DAGLB):c.393C>T:p.Asn131=	coding	Benign
7	6510953	G	A	G6510953A	GRID2IP	NM_001145118.1(GRID2IP):c.1510C>T:p.Arg504Cys	coding	Benign
7	6539772	G	A	G6539772A	GRID2IP	NM_001145118.1(GRID2IP):c.530C>T:p.Thr177Ile	coding	Benign
7	6779690	C	T	C6779690T	RSPH10B2	NM_001099697.1(RSPH10B2):c.1495C>T:p.His499Tyr	coding	Benign
7	7234423	T	G	T7234423G	C1GALT1	NM_020156.5(C1GALT1):c.104T>G:p.Val35Gly	coding	Benign
7	7373261	T	A	T7373261A	COL28A1	NM_001037763.3(COL28A1):c.2645A>T:p.Gln882Leu	coding	Benign
7	7380698	A	G	A7380698G	COL28A1	NM_001037763.3(COL28A1):c.2287-3T>C	noncoding	Benign
7	7531789	T	C	T7531789C	COL28A1	NM_001037763.3(COL28A1):c.240A>G:p.Gln80=	coding	Benign
7	7585736	A	G	A7585736G	MIOS	NM_019005.4(MIOS):c.1749A>G:p.Leu583=	coding	Benign
7	8156941	A	G	A8156941G	ICA1	NM_001136020.3(ICA1):c.804+175T>C	noncoding	Benign
7	8156945	A	G	A8156945G	ICA1	NM_001136020.3(ICA1):c.804+171T>C	noncoding	Benign
7	8158650	T	C	T8158650C	ICA1	NM_001136020.3(ICA1):c.582A>G:p.Val194=	coding	Benign
7	8232629	A	G	A8232629G	ICA1	NM_001136020.3(ICA1):c.144T>C:p.His48=	coding	Benign
7	8751352	G	A	G8751352A	NXPH1	NM_152745.3(NXPH1):c.399G>A:p.Leu133=	coding	Benign
7	8751499	C	T	C8751499T	NXPH1	NM_152745.3(NXPH1):c.546C>T:p.Thr182=	coding	Benign
7	10938647	A	G	A10938647G	NDUFA4	NM_002489.4(NDUFA4):c.131+161T>C	noncoding	Benign
7	10939016	T	A	T10939016A	NDUFA4	NM_002489.4(NDUFA4):c.43-120A>T	noncoding	Benign
7	10939162	A	T	A10939162T	NDUFA4	NM_002489.4(NDUFA4):c.43-266T>A	noncoding	Benign
7	10939769	A	G	A10939769G	NDUFA4	NM_002489.4(NDUFA4):c.42+247T>C	noncoding	Benign
7	10940015	C	G	C10940015G	NDUFA4	NM_002489.4(NDUFA4):c.42+1G>C	noncoding	Pathogenic
7	10940070	G	A	G10940070A	NDUFA4	NM_002489.4(NDUFA4):c.-13C>T	noncoding	Benign
7	10940310	A	G	A10940310G	NDUFA4	NC_000007.14:g.10940310A>G	noncoding	Benign
7	11375812	A	G	A11375812G	THSD7A	NM_015204.3(THSD7A):c.4956T>C:p.Asp1652=	coding	Benign
7	11379660	C	T	C11379660T	THSD7A	NM_015204.3(THSD7A):c.4560G>A:p.Pro1520=	coding	Benign
7	11406947	C	T	C11406947T	THSD7A	NM_015204.3(THSD7A):c.4025G>A:p.Arg1342Gln	coding	Benign
7	11462025	C	A	C11462025A	THSD7A	NM_015204.3(THSD7A):c.2487G>T:p.Ala829=	coding	Benign
7	11636168	A	G	A11636168G	THSD7A	NM_015204.3(THSD7A):c.984T>C:p.Val328=	coding	Benign
7	11636444	C	T	C11636444T	THSD7A	NM_015204.3(THSD7A):c.708G>A:p.Thr236=	coding	Benign
7	11636468	T	C	T11636468C	THSD7A	NM_015204.3(THSD7A):c.684A>G:p.Gly228=	coding	Benign
7	12214912	A	G	A12214912G	TMEM106B	NM_001134232.2(TMEM106B):c.102A>G:p.Glu34=	coding	Benign
7	13939109	G	A	G13939109A	ETV1	NM_004956.5(ETV1):c.365+8C>T	noncoding	Benign
7	15365556	A	C	A15365556C	AGMO	NM_001004320.2(AGMO):c.1221T>G:p.Gly407=	coding	Benign
7	15431089	G	A	G15431089A	AGMO	NM_001004320.2(AGMO):c.429C>T:p.Ala143=	coding	Benign
7	15561820	T	A	T15561820A	AGMO	NM_001004320.2(AGMO):c.26A>T:p.Asp9Val	coding	Benign
7	15561824	G	C	G15561824C	AGMO	NM_001004320.2(AGMO):c.22C>G:p.Gln8Glu	coding	Benign
7	16087672	G	T	G16087672T	CRPPA	NM_001101426.4(CRPPA):c.*4023C>A	noncoding	Benign
7	16088220	G	A	G16088220A	CRPPA	NM_001101426.4(CRPPA):c.*3475C>T	noncoding	Benign
7	16089846	C	T	C16089846T	CRPPA	NM_001101426.4(CRPPA):c.*1849G>A	noncoding	Benign
7	16089847	G	A	G16089847A	CRPPA	NM_001101426.4(CRPPA):c.*1848C>T	noncoding	Benign
7	16090018	T	C	T16090018C	CRPPA	NM_001101426.4(CRPPA):c.*1677A>G	noncoding	Benign
7	16090904	A	G	A16090904G	CRPPA	NM_001101426.4(CRPPA):c.*791T>C	noncoding	Benign
7	16091245	A	T	A16091245T	CRPPA	NM_001101426.4(CRPPA):c.*450T>A	noncoding	Benign
7	16091374	T	C	T16091374C	CRPPA	NM_001101426.4(CRPPA):c.*321A>G	noncoding	Benign
7	16091583	A	C	A16091583C	CRPPA	NM_001101426.4(CRPPA):c.*112T>G	noncoding	Benign
7	16091609	T	C	T16091609C	CRPPA	NM_001101426.4(CRPPA):c.*86A>G	noncoding	Benign
7	16091635	C	T	C16091635T	CRPPA	NM_001101426.4(CRPPA):c.*60G>A	noncoding	Benign
7	16091661	G	C	G16091661C	CRPPA	NM_001101426.4(CRPPA):c.*34C>G	noncoding	Benign
7	16091697	A	G	A16091697G	CRPPA	NM_001101426.4(CRPPA):c.1354T>C:p.Ter452Arg	coding	Pathogenic
7	16091697	A	T	A16091697T	CRPPA	NM_001101426.4(CRPPA):c.1354T>A:p.Ter452Arg	coding	Pathogenic
7	16091736	C	A	C16091736A	CRPPA	NM_001101426.4(CRPPA):c.1315G>T:p.Glu439Ter	coding	Pathogenic
7	16215977	A	T	A16215977T	CRPPA	NM_001101426.4(CRPPA):c.1251+89T>A	noncoding	Benign
7	16216016	T	C	T16216016C	CRPPA	NM_001101426.4(CRPPA):c.1251+50A>G	noncoding	Benign
7	16216048	G	A	G16216048A	CRPPA	NM_001101426.4(CRPPA):c.1251+18C>T	noncoding	Benign
7	16216097	A	G	A16216097G	CRPPA	NM_001101426.4(CRPPA):c.1220T>C:p.Leu407Ser	coding	Benign/Likely_benign
7	16216119	C	A	C16216119A	CRPPA	NM_001101426.4(CRPPA):c.1198G>T:p.Glu400Ter	coding	Pathogenic
7	16216131	C	A	C16216131A	CRPPA	NM_001101426.4(CRPPA):c.1186G>T:p.Glu396Ter	coding	Pathogenic
7	16216198	C	A	C16216198A	CRPPA	NM_001101426.4(CRPPA):c.1120-1G>T	coding	Pathogenic
7	16258809	T	C	T16258809C	CRPPA	NM_001101426.4(CRPPA):c.1026+111A>G	noncoding	Benign
7	16258813	T	G	T16258813G	CRPPA	NM_001101426.4(CRPPA):c.1026+107A>C	noncoding	Benign
7	16258999	G	T	G16258999T	CRPPA	NM_001101426.4(CRPPA):c.947C>A:p.Thr316Lys	coding	Benign
7	16278002	T	C	T16278002C	CRPPA	NM_001101426.4(CRPPA):c.933+127A>G	noncoding	Benign
7	16278042	T	C	T16278042C	CRPPA	NM_001101426.4(CRPPA):c.933+87A>G	noncoding	Benign
7	16301424	T	A	T16301424A	CRPPA	NM_001101426.4(CRPPA):c.832A>T:p.Lys278Ter	coding	Pathogenic
7	16301454	G	A	G16301454A	CRPPA	NM_001101426.4(CRPPA):c.802C>T:p.Arg268Ter	coding	Pathogenic
7	16308434	T	C	T16308434C	CRPPA	NM_001101426.4(CRPPA):c.789+89A>G	noncoding	Benign
7	16308466	A	C	A16308466C	CRPPA	NM_001101426.4(CRPPA):c.789+57T>G	noncoding	Benign
7	16308521	A	C	A16308521C	CRPPA	NM_001101426.4(CRPPA):c.789+2T>G	noncoding	Pathogenic
7	16308539	G	T	G16308539T	CRPPA	NM_001101426.4(CRPPA):c.773C>A:p.Ser258Ter	coding	Pathogenic
7	16308586	T	C	T16308586C	CRPPA	NM_001101426.4(CRPPA):c.726A>G:p.Gln242=	coding	Benign
7	16376129	G	T	G16376129T	CRPPA	NM_001101426.4(CRPPA):c.647C>A:p.Ala216Asp	coding	Pathogenic
7	16376133	G	A	G16376133A	CRPPA	NM_001101426.4(CRPPA):c.643C>T:p.Gln215Ter	coding	Pathogenic
7	16376138	A	C	A16376138C	CRPPA	NM_001101426.4(CRPPA):c.638T>G:p.Met213Arg	coding	Pathogenic
7	16406048	A	T	A16406048T	CRPPA	NM_001101426.4(CRPPA):c.534+13T>A	noncoding	Benign
7	16406129	C	T	C16406129T	CRPPA	NM_001101426.4(CRPPA):c.466G>A:p.Asp156Asn	coding	Pathogenic
7	16406188	G	A	G16406188A	CRPPA	NM_001101426.4(CRPPA):c.407C>T:p.Ala136Val	coding	Benign
7	16406231	C	G	C16406231G	CRPPA	NM_001101426.4(CRPPA):c.364G>C:p.Ala122Pro	coding	Pathogenic
7	16406249	G	A	G16406249A	CRPPA	NM_001101426.4(CRPPA):c.346C>T:p.Arg116Cys	coding	Benign/Likely_benign
7	16406338	C	G	C16406338G	CRPPA	NM_001101426.4(CRPPA):c.258-1G>C	coding	Pathogenic/Likely_pathogenic
7	16406462	A	T	A16406462T	CRPPA	NM_001101426.4(CRPPA):c.258-125T>A	noncoding	Benign
7	16420863	G	C	G16420863C	CRPPA	NM_001101426.4(CRPPA):c.257+203C>G	noncoding	Benign
7	16420902	A	G	A16420902G	CRPPA	NM_001101426.4(CRPPA):c.257+164T>C	noncoding	Benign
7	16421067	T	A	T16421067A	CRPPA	NM_001101426.4(CRPPA):c.256A>T:p.Arg86Ter	coding	Pathogenic
7	16421162	C	G	C16421162G	CRPPA	NM_001101426.4(CRPPA):c.161G>C:p.Gly54Ala	coding	Pathogenic
7	16421256	C	A	C16421256A	CRPPA	NM_001101426.4(CRPPA):c.67G>T:p.Gly23Cys	coding	Benign/Likely_benign
7	16421268	T	G	T16421268G	CRPPA	NM_001101426.4(CRPPA):c.55A>C:p.Ser19Arg	coding	Benign
7	16421291	G	C	G16421291C	CRPPA	NM_001101426.4(CRPPA):c.32C>G:p.Pro11Arg	coding	Benign/Likely_benign
7	16421322	T	A	T16421322A	CRPPA	NM_001101426.4(CRPPA):c.1A>T:p.Met1Leu	coding	Pathogenic
7	16421467	T	C	T16421467C	CRPPA	NM_001101426.4(CRPPA):c.-145A>G	noncoding	Benign
7	16462639	T	C	T16462639C	SOSTDC1	NM_015464.3(SOSTDC1):c.530A>G:p.His177Arg	coding	Benign
7	16462707	G	C	G16462707C	SOSTDC1	NM_015464.3(SOSTDC1):c.462C>G:p.Thr154=	coding	Benign
7	16462821	T	C	T16462821C	SOSTDC1	NM_015464.3(SOSTDC1):c.348A>G:p.Gly116=	coding	Benign
7	17333977	A	T	A17333977T	AHR	NM_001621.5(AHR):c.771A>T:p.Ser257=	coding	Benign
7	17335787	G	A	G17335787A	AHR	NM_001621.5(AHR):c.1160+1G>A	coding	Pathogenic
7	17339013	A	G	A17339013G	AHR	NM_001621.5(AHR):c.1188A>G:p.Arg396=	coding	Benign
7	17339265	T	A	T17339265A	AHR	NM_001621.5(AHR):c.1440T>A:p.Pro480=	coding	Benign
7	17339284	A	G	A17339284G	AHR	NM_001621.5(AHR):c.1459A>G:p.Asn487Asp	coding	Benign
7	17339533	G	A	G17339533A	AHR	NM_001621.5(AHR):c.1708G>A:p.Val570Ile	coding	Benign
7	17839912	T	C	T17839912C	SNX13	NM_015132.5(SNX13):c.1254A>G:p.Glu418=	coding	Benign
7	17890353	G	A	G17890353A	SNX13	NM_015132.5(SNX13):c.440+10C>T	noncoding	Benign
7	18591652	G	A	G18591652A	HDAC9	NM_178423.3(HDAC9):c.533+10G>A	noncoding	Benign
7	18647919	A	T	A18647919T	HDAC9	NM_178423.3(HDAC9):c.1161A>T:p.Pro387=	coding	Benign
7	18727596	C	A	C18727596A	HDAC9	NM_178423.3(HDAC9):c.1739C>A:p.Thr580Lys	coding	Benign
7	18727720	A	G	A18727720G	HDAC9	NM_178423.3(HDAC9):c.1863A>G:p.Pro621=	coding	Benign
7	18749001	A	G	A18749001G	HDAC9	NM_178423.3(HDAC9):c.1901-4A>G	noncoding	Benign
7	18767122	G	A	G18767122A	HDAC9	NM_178423.3(HDAC9):c.2172G>A:p.Lys724=	coding	Benign
7	18829456	C	T	C18829456T	HDAC9	NM_178423.3(HDAC9):c.2370-5C>T	noncoding	Benign
7	18954219	T	C	T18954219C	HDAC9	NM_178423.3(HDAC9):c.3002T>C:p.Ile1001Thr	coding	Benign
7	18954247	C	T	C18954247T	HDAC9	NM_178423.3(HDAC9):c.3013+17C>T	coding	Benign
7	19116759	G	A	G19116759A	TWIST1	NM_000474.4(TWIST1):c.563C>T:p.Ser188Leu	coding	Pathogenic
7	19116766	C	T	C19116766T	TWIST1	NM_000474.4(TWIST1):c.556G>A:p.Ala186Thr	coding	Pathogenic
7	19116781	C	A	C19116781A	TWIST1	NM_000474.4(TWIST1):c.541G>T:p.Glu181Ter	coding	Pathogenic
7	19116856	T	C	T19116856C	TWIST1	NM_000474.4(TWIST1):c.466A>G:p.Ile156Val	coding	Pathogenic
7	19116889	T	C	T19116889C	TWIST1	NM_000474.4(TWIST1):c.433A>G:p.Lys145Glu	coding	Pathogenic
7	19116903	G	T	G19116903T	TWIST1	NM_000474.4(TWIST1):c.419C>A:p.Ser140Ter	coding	Pathogenic
7	19116925	T	A	T19116925A	TWIST1	NM_000474.4(TWIST1):c.397A>T:p.Lys133Ter	coding	Pathogenic
7	19116927	C	G	C19116927G	TWIST1	NM_000474.4(TWIST1):c.395G>C:p.Arg132Pro	coding	Pathogenic
7	19116930	A	G	A19116930G	TWIST1	NM_000474.4(TWIST1):c.392T>C:p.Leu131Pro	coding	Pathogenic
7	19116946	C	A	C19116946A	TWIST1	NM_000474.4(TWIST1):c.376G>T:p.Glu126Ter	coding	Pathogenic
7	19116953	C	G	C19116953G	TWIST1	NM_000474.4(TWIST1):c.369G>C:p.Ser123=	coding	Benign
7	19116954	G	T	G19116954T	TWIST1	NM_000474.4(TWIST1):c.368C>A:p.Ser123Ter	coding	Pathogenic
7	19116960	G	A	G19116960A	TWIST1	NM_000474.4(TWIST1):c.362C>T:p.Thr121Ile	coding	Pathogenic
7	19116964	G	A	G19116964A	TWIST1	NM_000474.4(TWIST1):c.358C>T:p.Arg120Cys	coding	Pathogenic
7	19116966	T	G	T19116966G	TWIST1	NM_000474.4(TWIST1):c.356A>C:p.Gln119Pro	coding	Pathogenic
7	19116972	T	A	T19116972A	TWIST1	NM_000474.4(TWIST1):c.350A>T:p.Glu117Val	coding	Pathogenic
7	19116972	T	C	T19116972C	TWIST1	NM_000474.4(TWIST1):c.350A>G:p.Glu117Gly	coding	Pathogenic
7	19117013	G	C	G19117013C	TWIST1	NM_000474.4(TWIST1):c.309C>G:p.Tyr103Ter	coding	Pathogenic
7	19117013	G	T	G19117013T	TWIST1	NM_000474.4(TWIST1):c.309C>A:p.Tyr103Ter	coding	Pathogenic
7	19117021	G	A	G19117021A	TWIST1	NM_000474.4(TWIST1):c.301C>T:p.Gln101Ter	coding	Pathogenic/Likely_pathogenic
7	19117111	G	A	G19117111A	TWIST1	NM_000474.4(TWIST1):c.211C>T:p.Gln71Ter	coding	Pathogenic
7	19117240	G	A	G19117240A	TWIST1	NM_000474.4(TWIST1):c.82C>T:p.Gln28Ter	coding	Pathogenic
7	20645746	T	G	T20645746G	ABCB5	NM_001163941.2(ABCB5):c.679-10T>G	noncoding	Benign
7	20681529	G	A	G20681529A	ABCB5	NM_001163941.2(ABCB5):c.1732G>A:p.Val578Met	coding	Benign
7	20727129	G	T	G20727129T	ABCB5	NM_001163941.2(ABCB5):c.2715G>T:p.Gln905His	coding	Benign
7	20745379	G	A	G20745379A	ABCB5	NM_001163941.2(ABCB5):c.3370G>A:p.Glu1124Lys	coding	Benign
7	20785019	G	A	G20785019A	SP8	NM_182700.6(SP8):c.798C>T:p.Leu266=	coding	Benign
7	21429886	C	G	C21429886G	SP4	NM_003112.5(SP4):c.721C>G:p.Leu241Val	coding	Benign
7	21543246	A	G	A21543246G	DNAH11	NM_001277115.2(DNAH11):c.1A>G:p.Met1Val	coding	Benign
7	21543299	C	T	C21543299T	DNAH11	NM_001277115.2(DNAH11):c.54C>T:p.Thr18=	coding	Benign/Likely_benign
7	21543345	G	T	G21543345T	DNAH11	NM_001277115.2(DNAH11):c.100G>T:p.Glu34Ter	coding	Benign
7	21543346	A	T	A21543346T	DNAH11	NM_001277115.2(DNAH11):c.101A>T:p.Glu34Val	coding	Benign
7	21543433	G	C	G21543433C	DNAH11	NM_001277115.2(DNAH11):c.188G>C:p.Gly63Ala	coding	Benign
7	21544997	T	C	T21544997C	DNAH11	NM_001277115.2(DNAH11):c.352-9T>C	noncoding	Benign
7	21545075	G	T	G21545075T	DNAH11	NM_001277115.2(DNAH11):c.421G>T:p.Asp141Tyr	coding	Benign/Likely_benign
7	21558852	T	A	T21558852A	DNAH11	NM_001277115.2(DNAH11):c.546T>A:p.Cys182Ter	coding	Pathogenic
7	21558861	A	G	A21558861G	DNAH11	NM_001277115.2(DNAH11):c.555A>G:p.Ser185=	coding	Benign
7	21558882	A	G	A21558882G	DNAH11	NM_001277115.2(DNAH11):c.576A>G:p.Ile192Met	coding	Benign/Likely_benign
7	21559594	T	C	T21559594C	DNAH11	NM_001277115.2(DNAH11):c.693-9T>C	noncoding	Benign
7	21559615	C	T	C21559615T	DNAH11	NM_001277115.2(DNAH11):c.705C>T:p.Asn235=	coding	Benign
7	21559695	C	G	C21559695G	DNAH11	NM_001277115.2(DNAH11):c.785C>G:p.Ser262Ter	coding	Pathogenic
7	21559768	A	G	A21559768G	DNAH11	NM_001277115.2(DNAH11):c.858A>G:p.Glu286=	coding	Benign
7	21559799	A	G	A21559799G	DNAH11	NM_001277115.2(DNAH11):c.882+7A>G	noncoding	Benign
7	21561159	C	T	C21561159T	DNAH11	NM_001277115.2(DNAH11):c.971C>T:p.Ala324Val	coding	Benign
7	21564185	G	T	G21564185T	DNAH11	NM_001277115.2(DNAH11):c.983-1G>T	noncoding	Pathogenic
7	21564268	A	G	A21564268G	DNAH11	NM_001277115.2(DNAH11):c.1065A>G:p.Pro355=	coding	Benign/Likely_benign
7	21570073	C	T	C21570073T	DNAH11	NM_001277115.2(DNAH11):c.1199C>T:p.Thr400Ile	coding	Benign/Likely_benign
7	21570185	T	A	T21570185A	DNAH11	NM_001277115.2(DNAH11):c.1311T>A:p.Tyr437Ter	coding	Pathogenic
7	21570232	G	A	G21570232A	DNAH11	NM_001277115.2(DNAH11):c.1358G>A:p.Trp453Ter	coding	Pathogenic
7	21570271	A	C	A21570271C	DNAH11	NM_001277115.2(DNAH11):c.1397A>C:p.Lys466Thr	coding	Benign
7	21571804	A	G	A21571804G	DNAH11	NM_001277115.2(DNAH11):c.1426-2A>G	noncoding	Pathogenic
7	21571866	A	T	A21571866T	DNAH11	NM_001277115.2(DNAH11):c.1486A>T:p.Lys496Ter	coding	Pathogenic
7	21571974	G	A	G21571974A	DNAH11	NM_001277115.2(DNAH11):c.1593+1G>A	coding	Pathogenic
7	21582013	G	A	G21582013A	DNAH11	NM_001277115.2(DNAH11):c.1702G>A:p.Ala568Thr	coding	Benign/Likely_benign
7	21582022	G	C	G21582022C	DNAH11	NM_001277115.2(DNAH11):c.1710+1G>C	coding	Pathogenic
7	21588548	C	T	C21588548T	DNAH11	NM_001277115.2(DNAH11):c.1885C>T:p.Pro629Ser	coding	Benign/Likely_benign
7	21588579	A	G	A21588579G	DNAH11	NM_001277115.2(DNAH11):c.1916A>G:p.Gln639Arg	coding	Benign/Likely_benign
7	21588619	C	T	C21588619T	DNAH11	NM_001277115.2(DNAH11):c.1956C>T:p.Phe652=	coding	Benign
7	21588624	C	G	C21588624G	DNAH11	NM_001277115.2(DNAH11):c.1961C>G:p.Ser654Cys	coding	Benign/Likely_benign
7	21591170	G	T	G21591170T	DNAH11	NM_001277115.2(DNAH11):c.2275-15G>T	noncoding	Benign/Likely_benign
7	21591364	A	G	A21591364G	DNAH11	NM_001277115.2(DNAH11):c.2454A>G:p.Ala818=	coding	Benign
7	21591452	G	A	G21591452A	DNAH11	NM_001277115.2(DNAH11):c.2542G>A:p.Val848Met	coding	Benign
7	21591479	C	T	C21591479T	DNAH11	NM_001277115.2(DNAH11):c.2569C>T:p.Arg857Ter	coding	Pathogenic
7	21599954	A	G	A21599954G	DNAH11	NM_001277115.2(DNAH11):c.2835A>G:p.Gln945=	coding	Benign/Likely_benign
7	21600031	A	G	A21600031G	DNAH11	NM_001277115.2(DNAH11):c.2912A>G:p.Asp971Gly	coding	Benign
7	21600720	G	T	G21600720T	DNAH11	NM_001277115.2(DNAH11):c.3045G>T:p.Glu1015Asp	coding	Benign/Likely_benign
7	21600743	T	C	T21600743C	DNAH11	NM_001277115.2(DNAH11):c.3068T>C:p.Val1023Ala	coding	Benign/Likely_benign
7	21600780	G	A	G21600780A	DNAH11	NM_001277115.2(DNAH11):c.3105G>A:p.Glu1035=	coding	Benign/Likely_benign
7	21600787	A	G	A21600787G	DNAH11	NM_001277115.2(DNAH11):c.3112A>G:p.Thr1038Ala	coding	Benign
7	21600792	C	G	C21600792G	DNAH11	NM_001277115.2(DNAH11):c.3117C>G:p.Tyr1039Ter	coding	Pathogenic
7	21600797	G	A	G21600797A	DNAH11	NM_001277115.2(DNAH11):c.3122G>A:p.Trp1041Ter	coding	Pathogenic
7	21600808	C	T	C21600808T	DNAH11	NM_001277115.2(DNAH11):c.3133C>T:p.Arg1045Ter	coding	Pathogenic
7	21600883	G	T	G21600883T	DNAH11	NM_001277115.2(DNAH11):c.3208G>T:p.Glu1070Ter	coding	Pathogenic
7	21600895	G	T	G21600895T	DNAH11	NM_001277115.2(DNAH11):c.3220G>T:p.Glu1074Ter	coding	Pathogenic
7	21601000	C	G	C21601000G	DNAH11	NM_001277115.2(DNAH11):c.3256-10C>G	noncoding	Benign/Likely_benign
7	21601395	G	A	G21601395A	DNAH11	NM_001277115.2(DNAH11):c.3426-1G>A	noncoding	Pathogenic
7	21601514	C	T	C21601514T	DNAH11	NM_001277115.2(DNAH11):c.3544C>T:p.Arg1182Ter	coding	Pathogenic
7	21601600	G	A	G21601600A	DNAH11	NM_001277115.2(DNAH11):c.3630G>A:p.Gln1210=	coding	Benign
7	21601604	T	C	T21601604C	DNAH11	NM_001277115.2(DNAH11):c.3634T>C:p.Tyr1212His	coding	Benign
7	21606503	G	A	G21606503A	DNAH11	NM_001277115.2(DNAH11):c.3726G>A:p.Ala1242=	coding	Benign
7	21606543	G	A	G21606543A	DNAH11	NM_001277115.2(DNAH11):c.3765+1G>A	coding	Pathogenic
7	21615207	A	G	A21615207G	DNAH11	NM_001277115.2(DNAH11):c.3946A>G:p.Met1316Val	coding	Benign/Likely_benign
7	21616294	C	A	C21616294A	DNAH11	NM_001277115.2(DNAH11):c.4095+2C>A	noncoding	Pathogenic/Likely_pathogenic
7	21619093	C	G	C21619093G	DNAH11	NM_001277115.2(DNAH11):c.4255-7C>G	noncoding	Benign
7	21619127	A	G	A21619127G	DNAH11	NM_001277115.2(DNAH11):c.4282A>G:p.Thr1428Ala	coding	Benign
7	21619178	C	T	C21619178T	DNAH11	NM_001277115.2(DNAH11):c.4333C>T:p.Arg1445Ter	coding	Pathogenic
7	21619237	A	G	A21619237G	DNAH11	NM_001277115.2(DNAH11):c.4377+15A>G	noncoding	Benign
7	21619242	G	A	G21619242A	DNAH11	NM_001277115.2(DNAH11):c.4377+20G>A	noncoding	Benign
7	21620008	T	C	T21620008C	DNAH11	NM_001277115.2(DNAH11):c.4430T>C:p.Val1477Ala	coding	Benign
7	21620016	C	T	C21620016T	DNAH11	NM_001277115.2(DNAH11):c.4438C>T:p.Arg1480Ter	coding	Pathogenic
7	21620027	T	C	T21620027C	DNAH11	NM_001277115.2(DNAH11):c.4449T>C:p.Ile1483=	coding	Benign
7	21620042	T	C	T21620042C	DNAH11	NM_001277115.2(DNAH11):c.4464T>C:p.Ser1488=	coding	Benign
7	21635937	C	T	C21635937T	DNAH11	NM_001277115.2(DNAH11):c.4567C>T:p.Gln1523Ter	coding	Pathogenic
7	21635991	C	T	C21635991T	DNAH11	NM_001277115.2(DNAH11):c.4621C>T:p.Arg1541Ter	coding	Pathogenic
7	21637596	T	C	T21637596C	DNAH11	NM_001277115.2(DNAH11):c.4726-15T>C	noncoding	Benign/Likely_benign
7	21638937	A	G	A21638937G	DNAH11	NM_001277115.2(DNAH11):c.4818-2A>G	noncoding	Pathogenic
7	21639025	A	G	A21639025G	DNAH11	NM_001277115.2(DNAH11):c.4904A>G:p.Asp1635Gly	coding	Benign/Likely_benign
7	21655915	A	G	A21655915G	DNAH11	NM_001277115.2(DNAH11):c.5028A>G:p.Ala1676=	coding	Benign
7	21658888	C	T	C21658888T	DNAH11	NM_001277115.2(DNAH11):c.5185C>T:p.Pro1729Ser	coding	Benign
7	21658902	G	A	G21658902A	DNAH11	NM_001277115.2(DNAH11):c.5199G>A:p.Trp1733Ter	coding	Pathogenic
7	21658973	C	T	C21658973T	DNAH11	NM_001277115.2(DNAH11):c.5270C>T:p.Ala1757Val	coding	Benign
7	21681585	G	T	G21681585T	DNAH11	NM_001277115.2(DNAH11):c.5368G>T:p.Glu1790Ter	coding	Pathogenic
7	21683813	G	A	G21683813A	DNAH11	NM_001277115.2(DNAH11):c.5490G>A:p.Leu1830=	coding	Benign/Likely_benign
7	21683834	G	A	G21683834A	DNAH11	NM_001277115.2(DNAH11):c.5511G>A:p.Trp1837Ter	coding	Benign
7	21683916	C	T	C21683916T	DNAH11	NM_001277115.2(DNAH11):c.5593C>T:p.Arg1865Ter	coding	Pathogenic
7	21683955	A	T	A21683955T	DNAH11	NM_001277115.2(DNAH11):c.5621+11A>T	noncoding	Benign/Likely_benign
7	21687168	C	T	C21687168T	DNAH11	NM_001277115.2(DNAH11):c.5691C>T:p.Thr1897=	coding	Benign
7	21687256	G	A	G21687256A	DNAH11	NM_001277115.2(DNAH11):c.5778+1G>A	coding	Pathogenic
7	21687528	G	C	G21687528C	DNAH11	NM_001277115.2(DNAH11):c.5924+1G>C	coding	Pathogenic/Likely_pathogenic
7	21687546	A	G	A21687546G	DNAH11	NM_001277115.2(DNAH11):c.5924+19A>G	noncoding	Benign
7	21690844	C	T	C21690844T	DNAH11	NM_001277115.2(DNAH11):c.6004C>T:p.Arg2002Ter	coding	Pathogenic
7	21698100	A	G	A21698100G	DNAH11	NM_001277115.2(DNAH11):c.6067A>G:p.Ile2023Val	coding	Benign
7	21698150	G	A	G21698150A	DNAH11	NM_001277115.2(DNAH11):c.6117G>A:p.Ala2039=	coding	Benign/Likely_benign
7	21698163	C	T	C21698163T	DNAH11	NM_001277115.2(DNAH11):c.6130C>T:p.Arg2044Ter	coding	Pathogenic
7	21702773	C	T	C21702773T	DNAH11	NM_001277115.2(DNAH11):c.6244C>T:p.Arg2082Ter	coding	Pathogenic
7	21702794	G	T	G21702794T	DNAH11	NM_001277115.2(DNAH11):c.6265G>T:p.Glu2089Ter	coding	Pathogenic
7	21704421	T	G	T21704421G	DNAH11	NM_001277115.2(DNAH11):c.6274-13T>G	noncoding	Benign
7	21704597	G	A	G21704597A	DNAH11	NM_001277115.2(DNAH11):c.6437G>A:p.Arg2146His	coding	Benign/Likely_benign
7	21705443	A	G	A21705443G	DNAH11	NM_001277115.2(DNAH11):c.6469-17A>G	noncoding	Benign
7	21705497	C	A	C21705497A	DNAH11	NM_001277115.2(DNAH11):c.6506C>A:p.Ser2169Ter	coding	Pathogenic
7	21705518	C	T	C21705518T	DNAH11	NM_001277115.2(DNAH11):c.6527C>T:p.Ala2176Val	coding	Pathogenic
7	21707694	C	G	C21707694G	DNAH11	NM_001277115.2(DNAH11):c.6547-5C>G	noncoding	Benign
7	21710595	A	G	A21710595G	DNAH11	NM_001277115.2(DNAH11):c.6726A>G:p.Leu2242=	coding	Benign
7	21710596	C	T	C21710596T	DNAH11	NM_001277115.2(DNAH11):c.6727C>T:p.Arg2243Ter	coding	Pathogenic/Likely_pathogenic
7	21711693	A	G	A21711693G	DNAH11	NM_001277115.2(DNAH11):c.6835-19A>G	noncoding	Benign
7	21720857	G	A	G21720857A	DNAH11	NM_001277115.2(DNAH11):c.7266+1G>A	coding	Pathogenic
7	21725806	C	G	C21725806G	DNAH11	NM_001277115.2(DNAH11):c.7267-5C>G	noncoding	Benign
7	21725823	C	T	C21725823T	DNAH11	NM_001277115.2(DNAH11):c.7279C>T:p.Gln2427Ter	coding	Pathogenic
7	21725834	C	T	C21725834T	DNAH11	NM_001277115.2(DNAH11):c.7290C>T:p.Phe2430=	coding	Benign
7	21725879	G	A	G21725879A	DNAH11	NM_001277115.2(DNAH11):c.7335G>A:p.Ser2445=	coding	Benign/Likely_benign
7	21735621	A	G	A21735621G	DNAH11	NM_001277115.2(DNAH11):c.7441-19A>G	noncoding	Benign
7	21735751	G	A	G21735751A	DNAH11	NM_001277115.2(DNAH11):c.7552G>A:p.Val2518Ile	coding	Benign
7	21735769	T	C	T21735769C	DNAH11	NM_001277115.2(DNAH11):c.7570T>C:p.Leu2524=	coding	Benign/Likely_benign
7	21735790	T	C	T21735790C	DNAH11	NM_001277115.2(DNAH11):c.7591T>C:p.Tyr2531His	coding	Benign
7	21735825	G	A	G21735825A	DNAH11	NM_001277115.2(DNAH11):c.7626G>A:p.Thr2542=	coding	Benign
7	21738811	T	C	T21738811C	DNAH11	NM_001277115.2(DNAH11):c.7756T>C:p.Tyr2586His	coding	Benign/Likely_benign
7	21738831	C	T	C21738831T	DNAH11	NM_001277115.2(DNAH11):c.7776C>T:p.His2592=	coding	Benign
7	21739553	C	G	C21739553G	DNAH11	NM_001277115.2(DNAH11):c.7812-18C>G	noncoding	Benign/Likely_benign
7	21739660	A	G	A21739660G	DNAH11	NM_001277115.2(DNAH11):c.7901A>G:p.Asn2634Ser	coding	Benign
7	21742153	C	G	C21742153G	DNAH11	NM_001277115.2(DNAH11):c.8141C>G:p.Ser2714Ter	coding	Pathogenic
7	21742163	C	T	C21742163T	DNAH11	NM_001277115.2(DNAH11):c.8151C>T:p.Phe2717=	coding	Benign
7	21744419	C	T	C21744419T	DNAH11	NM_001277115.2(DNAH11):c.8155-19C>T	noncoding	Benign
7	21744471	G	T	G21744471T	DNAH11	NM_001277115.2(DNAH11):c.8188G>T:p.Gly2730Cys	coding	Benign
7	21744549	T	C	T21744549C	DNAH11	NM_001277115.2(DNAH11):c.8266T>C:p.Cys2756Arg	coding	Benign
7	21748602	C	T	C21748602T	DNAH11	NM_001277115.2(DNAH11):c.8533C>T:p.Arg2845Ter	coding	Pathogenic
7	21748679	C	G	C21748679G	DNAH11	NM_001277115.2(DNAH11):c.8610C>G:p.Tyr2870Ter	coding	Pathogenic
7	21749702	C	T	C21749702T	DNAH11	NM_001277115.2(DNAH11):c.8698C>T:p.Arg2900Ter	coding	Pathogenic
7	21749750	C	T	C21749750T	DNAH11	NM_001277115.2(DNAH11):c.8746C>T:p.Gln2916Ter	coding	Pathogenic
7	21749821	T	G	T21749821G	DNAH11	NM_001277115.2(DNAH11):c.8797+20T>G	noncoding	Benign
7	21765585	T	C	T21765585C	DNAH11	NM_001277115.2(DNAH11):c.9098T>C:p.Ile3033Thr	coding	Benign/Likely_benign
7	21765609	G	A	G21765609A	DNAH11	NM_001277115.2(DNAH11):c.9102+20G>A	noncoding	Benign
7	21778949	T	C	T21778949C	DNAH11	NM_001277115.2(DNAH11):c.9337-9T>C	noncoding	Benign
7	21779023	C	G	C21779023G	DNAH11	NM_001277115.2(DNAH11):c.9402C>G:p.Ala3134=	coding	Benign
7	21784466	G	T	G21784466T	DNAH11	NM_001277115.2(DNAH11):c.9523G>T:p.Glu3175Ter	coding	Pathogenic
7	21784504	G	A	G21784504A	DNAH11	NM_001277115.2(DNAH11):c.9561G>A:p.Leu3187=	coding	Benign/Likely_benign
7	21786668	A	G	A21786668G	DNAH11	NM_001277115.2(DNAH11):c.9642A>G:p.Ala3214=	coding	Benign
7	21786711	C	T	C21786711T	DNAH11	NM_001277115.2(DNAH11):c.9685C>T:p.Arg3229Trp	coding	Pathogenic
7	21786732	C	T	C21786732T	DNAH11	NM_001277115.2(DNAH11):c.9706C>T:p.Arg3236Ter	coding	Pathogenic
7	21801127	T	C	T21801127C	DNAH11	NM_001277115.2(DNAH11):c.10027-10T>C	noncoding	Benign
7	21801146	C	T	C21801146T	DNAH11	NM_001277115.2(DNAH11):c.10036C>T:p.Arg3346Ter	coding	Pathogenic
7	21801158	A	T	A21801158T	DNAH11	NM_001277115.2(DNAH11):c.10048A>T:p.Arg3350Ter	coding	Pathogenic
7	21801282	C	T	C21801282T	DNAH11	NM_001277115.2(DNAH11):c.10165+7C>T	noncoding	Benign
7	21807977	C	G	C21807977G	DNAH11	NM_001277115.2(DNAH11):c.10260C>G:p.Tyr3420Ter	coding	Pathogenic
7	21808041	C	T	C21808041T	DNAH11	NM_001277115.2(DNAH11):c.10324C>T:p.Gln3442Ter	coding	Pathogenic
7	21816484	C	G	C21816484G	DNAH11	NM_001277115.2(DNAH11):c.10350C>G:p.Thr3450=	coding	Benign
7	21816533	G	A	G21816533A	DNAH11	NM_001277115.2(DNAH11):c.10399G>A:p.Ala3467Thr	coding	Benign
7	21816583	C	T	C21816583T	DNAH11	NM_001277115.2(DNAH11):c.10449C>T:p.Ala3483=	coding	Benign/Likely_benign
7	21842591	G	A	G21842591A	DNAH11	NM_001277115.2(DNAH11):c.10739G>A:p.Arg3580His	coding	Benign
7	21842641	C	T	C21842641T	DNAH11	NM_001277115.2(DNAH11):c.10789C>T:p.Gln3597Ter	coding	Pathogenic
7	21842729	C	A	C21842729A	DNAH11	NM_001277115.2(DNAH11):c.10877C>A:p.Pro3626Gln	coding	Benign
7	21852629	A	G	A21852629G	DNAH11	NM_001277115.2(DNAH11):c.11059A>G:p.Lys3687Glu	coding	Benign
7	21854375	G	T	G21854375T	DNAH11	NM_001277115.2(DNAH11):c.11122G>T:p.Val3708Leu	coding	Benign
7	21854453	A	C	A21854453C	DNAH11	NM_001277115.2(DNAH11):c.11200A>C:p.Lys3734Gln	coding	Benign
7	21854462	C	A	C21854462A	DNAH11	NM_001277115.2(DNAH11):c.11202+7C>A	noncoding	Benign/Likely_benign
7	21854468	G	A	G21854468A	DNAH11	NM_001277115.2(DNAH11):c.11202+13G>A	noncoding	Benign/Likely_benign
7	21861904	G	A	G21861904A	DNAH11	NM_001277115.2(DNAH11):c.11254G>A:p.Asp3752Asn	coding	Benign
7	21861922	T	C	T21861922C	DNAH11	NM_001277115.2(DNAH11):c.11272T>C:p.Ser3758Pro	coding	Benign/Likely_benign
7	21861948	T	C	T21861948C	DNAH11	NM_001277115.2(DNAH11):c.11298T>C:p.His3766=	coding	Benign
7	21861975	G	A	G21861975A	DNAH11	NM_001277115.2(DNAH11):c.11325G>A:p.Ala3775=	coding	Benign/Likely_benign
7	21862024	G	A	G21862024A	DNAH11	NM_001277115.2(DNAH11):c.11373+1G>A	coding	Pathogenic
7	21864542	T	A	T21864542A	DNAH11	NM_001277115.2(DNAH11):c.11381T>A:p.Leu3794Ter	coding	Pathogenic
7	21864579	C	T	C21864579T	DNAH11	NM_001277115.2(DNAH11):c.11418C>T:p.Phe3806=	coding	Benign/Likely_benign
7	21866506	C	T	C21866506T	DNAH11	NM_001277115.2(DNAH11):c.11533C>T:p.Arg3845Ter	coding	Pathogenic/Likely_pathogenic
7	21873273	G	C	G21873273C	DNAH11	NM_001277115.2(DNAH11):c.11968-1G>C	noncoding	Pathogenic
7	21873351	T	C	T21873351C	DNAH11	NM_001277115.2(DNAH11):c.12045T>C:p.Asp4015=	coding	Benign
7	21880700	A	G	A21880700G	DNAH11	NM_001277115.2(DNAH11):c.12196-2A>G	noncoding	Pathogenic
7	21880738	A	T	A21880738T	DNAH11	NM_001277115.2(DNAH11):c.12232A>T:p.Lys4078Ter	coding	Pathogenic
7	21880794	G	A	G21880794A	DNAH11	NM_001277115.2(DNAH11):c.12288G>A:p.Arg4096=	coding	Benign/Likely_benign
7	21880816	C	T	C21880816T	DNAH11	NM_001277115.2(DNAH11):c.12310C>T:p.Arg4104Ter	coding	Pathogenic
7	21880869	C	G	C21880869G	DNAH11	NM_001277115.2(DNAH11):c.12363C>G:p.Tyr4121Ter	coding	Pathogenic
7	21880913	T	A	T21880913A	DNAH11	NM_001277115.2(DNAH11):c.12387+20T>A	noncoding	Benign
7	21884396	A	G	A21884396G	DNAH11	NM_001277115.2(DNAH11):c.12493A>G:p.Met4165Val	coding	Benign
7	21892413	T	C	T21892413C	DNAH11	NM_001277115.2(DNAH11):c.12508-12T>C	noncoding	Benign/Likely_benign
7	21892426	C	T	C21892426T	DNAH11	NM_001277115.2(DNAH11):c.12509C>T:p.Thr4170Ile	coding	Benign/Likely_benign
7	21892438	T	G	T21892438G	DNAH11	NM_001277115.2(DNAH11):c.12521T>G:p.Leu4174Arg	coding	Benign
7	21892447	C	T	C21892447T	DNAH11	NM_001277115.2(DNAH11):c.12530C>T:p.Ala4177Val	coding	Benign
7	21892529	G	T	G21892529T	DNAH11	NM_001277115.2(DNAH11):c.12612G>T:p.Pro4204=	coding	Benign
7	21892561	T	C	T21892561C	DNAH11	NM_001277115.2(DNAH11):c.12644T>C:p.Ile4215Thr	coding	Benign
7	21892614	C	T	C21892614T	DNAH11	NM_001277115.2(DNAH11):c.12697C>T:p.Gln4233Ter	coding	Pathogenic
7	21894893	G	A	G21894893A	DNAH11	NM_001277115.2(DNAH11):c.12943G>A:p.Ala4315Thr	coding	Benign
7	21894914	G	A	G21894914A	DNAH11	NM_001277115.2(DNAH11):c.12964G>A:p.Ala4322Thr	coding	Benign
7	21894958	G	A	G21894958A	DNAH11	NM_001277115.2(DNAH11):c.13008G>A:p.Trp4336Ter	coding	Pathogenic
7	21899355	C	T	C21899355T	DNAH11	NM_001277115.2(DNAH11):c.13069C>T:p.Arg4357Ter	coding	Pathogenic
7	21899361	C	T	C21899361T	DNAH11	NM_001277115.2(DNAH11):c.13075C>T:p.Arg4359Ter	coding	Pathogenic
7	21899414	C	A	C21899414A	DNAH11	NM_001277115.2(DNAH11):c.13128C>A:p.Leu4376=	coding	Benign/Likely_benign
7	21899414	C	G	C21899414G	DNAH11	NM_001277115.2(DNAH11):c.13128C>G:p.Leu4376=	coding	Benign/Likely_benign
7	21899988	C	T	C21899988T	DNAH11	NM_001277115.2(DNAH11):c.13171C>T:p.Gln4391Ter	coding	Pathogenic
7	21899993	G	C	G21899993C	DNAH11	NM_001277115.2(DNAH11):c.13176G>C:p.Thr4392=	coding	Benign
7	21900000	C	T	C21900000T	DNAH11	NM_001277115.2(DNAH11):c.13183C>T:p.Arg4395Ter	coding	Pathogenic
7	21900071	T	C	T21900071C	DNAH11	NM_001277115.2(DNAH11):c.13254T>C:p.Tyr4418=	coding	Benign
7	21900080	G	C	G21900080C	DNAH11	NM_001277115.2(DNAH11):c.13263G>C:p.Pro4421=	coding	Benign
7	21900105	G	A	G21900105A	DNAH11	NM_001277115.2(DNAH11):c.13288G>A:p.Gly4430Arg	coding	Pathogenic
7	21901024	C	T	C21901024T	DNAH11	NM_001277115.2(DNAH11):c.13321C>T:p.Gln4441Ter	coding	Pathogenic
7	21901132	G	T	G21901132T	DNAH11	NM_001277115.2(DNAH11):c.13429G>T:p.Glu4477Ter	coding	Pathogenic
7	21901198	G	A	G21901198A	DNAH11	NM_001277115.2(DNAH11):c.13495G>A:p.Glu4499Lys	coding	Benign/Likely_benign
7	21901205	A	G	A21901205G	DNAH11	NM_001277115.2(DNAH11):c.13502A>G:p.Lys4501Arg	coding	Benign/Likely_benign
7	21901250	C	T	C21901250T	DNAH11	NM_001277115.2(DNAH11):c.13547C>T:p.Ala4516Val	coding	Benign/Likely_benign
7	21901270	C	T	C21901270T	DNAH11	NM_001277115.2(DNAH11):c.*16C>T	noncoding	Benign/Likely_benign
7	21906648	C	G	C21906648G	CDCA7L	NM_018719.5(CDCA7L):c.682-9G>C	noncoding	Benign
7	22727515	C	A	C22727515A	IL6	NM_000600.5(IL6):c.91C>A:p.Pro31Thr	coding	Benign
7	22727518	C	T	C22727518T	IL6	NM_000600.5(IL6):c.94C>T:p.Pro32Ser	coding	Benign
7	22731419	A	T	A22731419T	IL6	NM_000600.5(IL6):c.485A>T:p.Asp162Val	coding	Benign
7	22941785	T	G	T22941785G	FAM126A	NM_032581.4(FAM126A):c.*3804A>C	noncoding	Benign
7	22941909	T	C	T22941909C	FAM126A	NM_032581.4(FAM126A):c.*3680A>G	noncoding	Benign
7	22942323	G	A	G22942323A	FAM126A	NM_032581.4(FAM126A):c.*3266C>T	noncoding	Benign
7	22942588	T	C	T22942588C	FAM126A	NM_032581.4(FAM126A):c.*3001A>G	noncoding	Benign
7	22942613	C	A	C22942613A	FAM126A	NM_032581.4(FAM126A):c.*2976G>T	noncoding	Benign
7	22942928	G	A	G22942928A	FAM126A	NM_032581.4(FAM126A):c.*2661C>T	noncoding	Benign
7	22943130	G	T	G22943130T	FAM126A	NM_032581.4(FAM126A):c.*2459C>A	noncoding	Benign
7	22943620	C	T	C22943620T	FAM126A	NM_032581.4(FAM126A):c.*1969G>A	noncoding	Benign
7	22943981	T	C	T22943981C	FAM126A	NM_032581.4(FAM126A):c.*1608A>G	noncoding	Benign
7	22944083	A	T	A22944083T	FAM126A	NM_032581.4(FAM126A):c.*1506T>A	noncoding	Benign
7	22944235	T	C	T22944235C	FAM126A	NM_032581.4(FAM126A):c.*1354A>G	noncoding	Benign
7	22944271	T	C	T22944271C	FAM126A	NM_032581.4(FAM126A):c.*1318A>G	noncoding	Benign
7	22944731	A	T	A22944731T	FAM126A	NM_032581.4(FAM126A):c.*858T>A	noncoding	Benign
7	22945152	C	T	C22945152T	FAM126A	NM_032581.4(FAM126A):c.*437G>A	noncoding	Benign
7	22945153	A	C	A22945153C	FAM126A	NM_032581.4(FAM126A):c.*436T>G	noncoding	Benign
7	22945154	G	A	G22945154A	FAM126A	NM_032581.4(FAM126A):c.*435C>T	noncoding	Benign
7	22945205	T	C	T22945205C	FAM126A	NM_032581.4(FAM126A):c.*384A>G	noncoding	Benign
7	22945348	A	G	A22945348G	FAM126A	NM_032581.4(FAM126A):c.*241T>C	noncoding	Benign
7	22945391	A	C	A22945391C	FAM126A	NM_032581.4(FAM126A):c.*198T>G	noncoding	Benign
7	22945600	A	G	A22945600G	FAM126A	NM_032581.4(FAM126A):c.1555T>C:p.Ser519Pro	coding	Benign
7	22946174	A	C	A22946174C	FAM126A	NM_032581.4(FAM126A):c.992-11T>G	noncoding	Benign
7	22960413	A	C	A22960413C	FAM126A	NM_032581.4(FAM126A):c.834T>G:p.Val278=	coding	Benign
7	22964508	C	T	C22964508T	FAM126A	NM_032581.4(FAM126A):c.650G>A:p.Arg217Gln	coding	Benign
7	22964522	A	G	A22964522G	FAM126A	NM_032581.4(FAM126A):c.636T>C:p.Val212=	coding	Benign
7	22976212	T	C	T22976212C	FAM126A	NM_032581.4(FAM126A):c.624A>G:p.Ser208=	coding	Benign
7	22976809	C	T	C22976809T	FAM126A	NM_032581.4(FAM126A):c.415-1G>A	coding	Pathogenic
7	22977340	C	A	C22977340A	FAM126A	NM_032581.4(FAM126A):c.414+1G>T	noncoding	Pathogenic
7	22978444	A	G	A22978444G	FAM126A	NM_032581.4(FAM126A):c.158T>C:p.Leu53Pro	coding	Pathogenic
7	22991060	C	T	C22991060T	FAM126A	NM_032581.4(FAM126A):c.51+1G>A	noncoding	Pathogenic
7	23105792	G	T	G23105792T	KLHL7	NM_001031710.3(KLHL7):c.-235G>T	noncoding	Benign
7	23117963	A	G	A23117963G	KLHL7	NM_001031710.3(KLHL7):c.121-5814A>G	coding	Benign
7	23125082	C	T	C23125082T	KLHL7	NM_001031710.3(KLHL7):c.352C>T:p.Leu118=	coding	Benign
7	23140775	G	A	G23140775A	KLHL7	NM_001031710.3(KLHL7):c.449G>A:p.Ser150Asn	coding	Pathogenic
7	23140783	G	A	G23140783A	KLHL7	NM_001031710.3(KLHL7):c.457G>A:p.Ala153Thr	coding	Pathogenic
7	23140784	C	T	C23140784T	KLHL7	NM_001031710.3(KLHL7):c.458C>T:p.Ala153Val	coding	Pathogenic
7	23140785	G	A	G23140785A	KLHL7	NM_001031710.3(KLHL7):c.459G>A:p.Ala153=	coding	Benign
7	23140891	C	T	C23140891T	KLHL7	NM_001031710.3(KLHL7):c.565C>T:p.Arg189Ter	coding	Pathogenic
7	23165737	C	T	C23165737T	KLHL7	NM_001031710.3(KLHL7):c.976C>T:p.Arg326Ter	coding	Pathogenic/Likely_pathogenic
7	23165812	C	T	C23165812T	KLHL7	NM_001031710.3(KLHL7):c.1051C>T:p.Arg351Ter	coding	Pathogenic
7	23165876	G	A	G23165876A	KLHL7	NM_001031710.3(KLHL7):c.1115G>A:p.Arg372Gln	coding	Pathogenic
7	23167919	T	A	T23167919A	KLHL7	NM_001031710.3(KLHL7):c.1261T>A:p.Cys421Ser	coding	Pathogenic
7	23173008	A	G	A23173008G	KLHL7	NM_001031710.3(KLHL7):c.1440A>G:p.Lys480=	coding	Benign
7	23174115	T	C	T23174115C	KLHL7	NM_001031710.3(KLHL7):c.1578T>C:p.Val526=	coding	Benign
7	23174333	A	G	A23174333G	KLHL7	NM_001031710.3(KLHL7):c.*35A>G	noncoding	Benign
7	23175028	C	T	C23175028T	KLHL7	NM_001031710.3(KLHL7):c.*730C>T	noncoding	Benign
7	23175077	A	G	A23175077G	KLHL7	NM_001031710.3(KLHL7):c.*779A>G	noncoding	Benign
7	23175269	G	T	G23175269T	KLHL7	NM_001031710.3(KLHL7):c.*971G>T	noncoding	Benign
7	23246890	G	A	G23246890A	GPNMB	NM_002510.3(GPNMB):c.33G>A:p.Leu11=	coding	Benign
7	23254235	C	T	C23254235T	GPNMB	NM_002510.3(GPNMB):c.290C>T:p.Ala97Val	coding	Benign
7	23260003	C	T	C23260003T	GPNMB	NM_002510.3(GPNMB):c.565C>T:p.Arg189Ter	coding	Pathogenic
7	23260029	C	T	C23260029T	GPNMB	NM_002510.3(GPNMB):c.591C>T:p.Asn197=	coding	Benign
7	23260098	T	G	T23260098G	GPNMB	NM_002510.3(GPNMB):c.660T>G:p.Tyr220Ter	coding	Pathogenic
7	23260565	T	A	T23260565A	GPNMB	NM_002510.3(GPNMB):c.810T>A:p.Pro270=	coding	Benign
7	23260726	C	T	C23260726T	GPNMB	NM_002510.3(GPNMB):c.971C>T:p.Pro324Leu	coding	Benign
7	23270045	T	G	T23270045G	GPNMB	NM_002510.3(GPNMB):c.1299T>G:p.Asp433Glu	coding	Benign
7	23274119	C	A	C23274119A	GPNMB	NM_002510.3(GPNMB):c.1578C>A:p.Ser526Arg	coding	Benign
7	23274126	C	T	C23274126T	GPNMB	NM_002510.3(GPNMB):c.1585C>T:p.Leu529=	coding	Benign
7	23274188	G	A	G23274188A	GPNMB	NM_002510.3(GPNMB):c.1647G>A:p.Pro549=	coding	Benign
7	23274204	G	T	G23274204T	GPNMB	NM_002510.3(GPNMB):c.1663G>T:p.Glu555Ter	coding	Benign
7	23319261	G	T	G23319261T	IGF2BP3	NM_006547.3(IGF2BP3):c.1204-7C>A	noncoding	Benign
7	24285260	T	C	T24285260C	NPY	NM_000905.4(NPY):c.20T>C:p.Leu7Pro	coding	Benign
7	24285324	G	A	G24285324A	NPY	NM_000905.4(NPY):c.84G>A:p.Ala28=	coding	Benign
7	24650658	A	G	A24650658G	MPP6	NM_001303037.2(MPP6):c.597A>G:p.Gly199=	coding	Benign
7	24680454	G	A	G24680454A	MPP6	NM_001303037.2(MPP6):c.1380G>A:p.Glu460=	coding	Benign
7	24698499	G	A	G24698499A	GSDME	NM_001127453.2(GSDME):c.*527C>T	noncoding	Benign
7	24698545	C	G	C24698545G	GSDME	NM_001127453.2(GSDME):c.*481G>C	noncoding	Benign
7	24698578	A	G	A24698578G	GSDME	NM_001127453.2(GSDME):c.*448T>C	noncoding	Benign
7	24698753	G	A	G24698753A	GSDME	NM_001127453.2(GSDME):c.*273C>T	noncoding	Benign
7	24698939	T	C	T24698939C	GSDME	NM_001127453.2(GSDME):c.*87A>G	noncoding	Benign
7	24698996	G	A	G24698996A	GSDME	NM_001127453.2(GSDME):c.*30C>T	noncoding	Benign
7	24699169	G	A	G24699169A	GSDME	NM_001127453.2(GSDME):c.1348C>T:p.Arg450Cys	coding	Benign/Likely_benign
7	24699183	A	T	A24699183T	GSDME	NM_001127453.2(GSDME):c.1334T>A:p.Phe445Tyr	coding	Benign
7	24702817	T	C	T24702817C	GSDME	NM_001127453.2(GSDME):c.1200A>G:p.Ala400=	coding	Benign
7	24702818	G	A	G24702818A	GSDME	NM_001127453.2(GSDME):c.1199C>T:p.Ala400Val	coding	Benign
7	24706109	C	T	C24706109T	GSDME	NM_001127453.2(GSDME):c.1183+75G>A	noncoding	Benign
7	24706175	T	A	T24706175A	GSDME	NM_001127453.2(GSDME):c.1183+9A>T	noncoding	Benign/Likely_benign
7	24706180	T	C	T24706180C	GSDME	NM_004403.3(GSDME):c.1183+4A>G	noncoding	Pathogenic
7	24706382	G	C	G24706382C	GSDME	NM_004403.3(GSDME):c.991-6C>G	noncoding	Pathogenic
7	24706446	C	G	C24706446G	GSDME	NM_001127453.2(GSDME):c.991-70G>C	noncoding	Benign
7	24708253	C	T	C24708253T	GSDME	NM_001127453.2(GSDME):c.864G>A:p.Ala288=	coding	Benign/Likely_benign
7	24708260	A	G	A24708260G	GSDME	NM_001127453.2(GSDME):c.863-6T>C	noncoding	Benign
7	24717293	C	T	C24717293T	GSDME	NM_001127453.2(GSDME):c.658G>A:p.Gly220Ser	coding	Benign
7	24717332	C	T	C24717332T	GSDME	NM_001127453.2(GSDME):c.619G>A:p.Val207Met	coding	Benign
7	24717339	G	A	G24717339A	GSDME	NM_001127453.2(GSDME):c.612C>T:p.Asp204=	coding	Benign
7	24717364	G	A	G24717364A	GSDME	NM_001127453.2(GSDME):c.587C>T:p.Thr196Met	coding	Benign
7	24717389	G	A	G24717389A	GSDME	NM_001127453.2(GSDME):c.577-15C>T	noncoding	Benign
7	24719102	A	G	A24719102G	GSDME	NM_004403.3(GSDME):c.521T>C:p.Met174Thr	coding	Benign/Likely_benign
7	24719134	C	T	C24719134T	GSDME	NM_001127453.2(GSDME):c.489G>A:p.Thr163=	coding	Benign
7	24719176	T	C	T24719176C	GSDME	NM_001127453.2(GSDME):c.447A>G:p.Glu149=	coding	Benign
7	24719199	G	T	G24719199T	GSDME	NM_001127453.2(GSDME):c.424C>A:p.Pro142Thr	coding	Benign
7	24719230	A	G	A24719230G	GSDME	NM_001127453.2(GSDME):c.405-12T>C	noncoding	Benign/Likely_benign
7	24719233	C	T	C24719233T	GSDME	NM_001127453.2(GSDME):c.405-15G>A	noncoding	Benign
7	24744808	G	A	G24744808A	GSDME	NM_001127453.2(GSDME):c.212-54C>T	noncoding	Benign
7	24749688	A	T	A24749688T	GSDME	NM_001127453.2(GSDME):c.87T>A:p.Asp29Glu	coding	Benign
7	25123975	A	G	A25123975G	CYCS	NM_018947.5(CYCS):c.145T>C:p.Tyr49His	coding	Pathogenic
7	25124125	A	C	A25124125C	CYCS	NM_018947.5(CYCS):c.-6T>G	noncoding	Benign
7	26193241	T	C	T26193241C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.964+10A>G	noncoding	Benign
7	26193346	T	A	T26193346A	HNRNPA2B1	NM_031243.3(HNRNPA2B1):c.905A>T:p.Asp302Val	coding	Pathogenic
7	26193569	T	C	T26193569C	HNRNPA2B1	NM_031243.3(HNRNPA2B1):c.877+6A>G	noncoding	Benign
7	26195916	G	C	G26195916C	HNRNPA2B1	NM_031243.3(HNRNPA2B1):c.695-7C>G	noncoding	Benign
7	26196414	A	G	A26196414G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.645T>C:p.Phe215=	coding	Benign
7	26196615	T	C	T26196615C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.519A>G:p.Arg173=	coding	Benign
7	26196994	A	G	A26196994G	HNRNPA2B1	NM_031243.3(HNRNPA2B1):c.324T>C:p.His108=	coding	Benign
7	26197336	T	C	T26197336C	HNRNPA2B1	NM_031243.3(HNRNPA2B1):c.279A>G:p.Pro93=	coding	Benign
7	26197618	A	G	A26197618G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.117+4T>C	noncoding	Benign
7	26360970	T	C	T26360970C	SNX10	NM_013322.3(SNX10):c.25-5T>C	coding	Benign
7	26360996	C	T	C26360996T	SNX10	NM_001199835.1(SNX10):c.46C>T:p.Arg16Ter	coding	Pathogenic
7	26364575	G	A	G26364575A	SNX10	NM_001199835.1(SNX10):c.152G>A:p.Arg51Gln	coding	Pathogenic
7	26364585	T	A	T26364585A	SNX10	NM_001199835.1(SNX10):c.162T>A:p.Tyr54Ter	coding	Pathogenic
7	26371813	T	A	T26371813A	SNX10	NM_013322.3(SNX10):c.312-8T>A	noncoding	Benign
7	26371848	A	G	A26371848G	SNX10	NM_013322.3(SNX10):c.339A>G:p.Ser113=	coding	Benign
7	26725466	C	G	C26725466G	SKAP2	NM_003930.5(SKAP2):c.758G>C:p.Ser253Thr	coding	Benign
7	26738871	G	A	G26738871A	SKAP2	NM_003930.5(SKAP2):c.393C>T:p.Ser131=	coding	Benign
7	26864395	G	A	G26864395A	SKAP2	NM_003930.5(SKAP2):c.35C>T:p.Pro12Leu	coding	Benign
7	27093350	G	A	G27093350A	HOXA1	NM_005522.5(HOXA1):c.*1090C>T	noncoding	Benign
7	27095477	G	T	G27095477T	HOXA1;HOXA2	NM_005522.4(HOXA1):c.436C>A:p.His146Asn	coding	Benign/Likely_benign
7	27095695	C	T	C27095695T	HOXA2	NM_005522.4(HOXA1):c.218=:p.His73=	coding	Benign
7	27095700	G	A	G27095700A	HOXA1;HOXA2	NM_005522.4(HOXA1):c.213C>T:p.His71=	coding	Benign/Likely_benign
7	27095739	C	G	C27095739G	HOXA1	NM_005522.4(HOXA1):c.174G>C:p.Gly58=	coding	Benign/Likely_benign
7	27095829	G	C	G27095829C	HOXA1	NM_005522.4(HOXA1):c.84C>G:p.Tyr28Ter	coding	Pathogenic
7	27095837	G	A	G27095837A	HOXA1	NM_005522.4(HOXA1):c.76C>T:p.Arg26Ter	coding	Pathogenic
7	27100410	A	G	A27100410G	HOXA2	NM_006735.4(HOXA2):c.*316T>C	noncoding	Benign
7	27101154	G	A	G27101154A	HOXA2	NM_006735.4(HOXA2):c.703C>T:p.Gln235Ter	coding	Pathogenic
7	27101187	C	A	C27101187A	HOXA2	NM_006735.4(HOXA2):c.670G>T:p.Glu224Ter	coding	Pathogenic
7	27101301	G	T	G27101301T	HOXA2	NM_006735.4(HOXA2):c.556C>A:p.Gln186Lys	coding	Pathogenic
7	27143527	A	G	A27143527G	HOXA5	NM_019102.4(HOXA5):c.81T>C:p.His27=	coding	Benign
7	27163795	C	T	C27163795T	HOXA9	NM_152739.4(HOXA9):c.627G>A:p.Lys209=	coding	Benign
7	27173943	G	A	G27173943A	HOXA10	NM_018951.4(HOXA10):c.364C>T:p.Pro122Ser	coding	Benign
7	27182898	G	A	G27182898A	HOXA11	NM_005523.5(HOXA11):c.840C>T:p.Leu280=	coding	Benign/Likely_benign
7	27198251	T	G	T27198251G	HOXA13	NM_000522.5(HOXA13):c.1114A>C:p.Asn372His	coding	Pathogenic
7	27198258	C	T	C27198258T	HOXA13	NM_000522.5(HOXA13):c.1107G>A:p.Trp369Ter	coding	Pathogenic
7	27198363	T	C	T27198363C	HOXA13	NM_000522.5(HOXA13):c.1002A>G:p.Leu334=	coding	Benign
7	27199445	C	A	C27199445A	HOXA13	NM_000522.5(HOXA13):c.633G>T:p.Met211Ile	coding	Benign/Likely_benign
7	27199487	G	T	G27199487T	HOXA13	NM_000522.5(HOXA13):c.591C>A:p.Pro197=	coding	Benign
7	27199598	C	T	C27199598T	HOXA13	NM_000522.5(HOXA13):c.480G>A:p.Ala160=	coding	Benign
7	27199671	G	T	G27199671T	HOXA13	NM_000522.5(HOXA13):c.407C>A:p.Ser136Ter	coding	Pathogenic
7	27246071	A	C	A27246071C	EVX1	NM_001989.5(EVX1):c.870A>C:p.Ala290=	coding	Benign
7	27792000	C	A	C27792000A	TAX1BP1	NM_001206901.1(TAX1BP1):c.1039-6C>A	noncoding	Benign
7	27794316	T	G	T27794316G	TAX1BP1	NM_001206901.1(TAX1BP1):c.1411-7T>G	noncoding	Benign
7	27828727	G	A	G27828727A	TAX1BP1	NM_001206901.1(TAX1BP1):c.2142G>A:p.Val714=	coding	Benign
7	27828808	G	A	G27828808A	TAX1BP1	NM_001206901.1(TAX1BP1):c.2223G>A:p.Gln741=	coding	Benign
7	29512640	C	T	C29512640T	CHN2	NM_004067.4(CHN2):c.1312C>T:p.Pro438Ser	coding	Benign
7	29888073	G	A	G29888073A	WIPF3	NM_001080529.2(WIPF3):c.1105G>A:p.Gly369Ser	coding	Benign
7	29904317	A	G	A29904317G	WIPF3	NM_001080529.2(WIPF3):c.1383A>G:p.Glu461=	coding	Benign
7	30014735	C	G	C30014735G	FKBP14	NM_017946.4(FKBP14):c.636G>C:p.Ter212Tyr	coding	Pathogenic
7	30014876	C	T	C30014876T	FKBP14	NM_017946.4(FKBP14):c.495G>A:p.Lys165=	coding	Benign/Likely_benign
7	30019098	C	G	C30019098G	FKBP14	NM_017946.4(FKBP14):c.375G>C:p.Leu125=	coding	Benign/Likely_benign
7	30022684	G	A	G30022684A	FKBP14	NM_017946.4(FKBP14):c.330C>T:p.Gly110=	coding	Benign/Likely_benign
7	30022768	C	T	C30022768T	FKBP14	NM_017946.4(FKBP14):c.246G>A:p.Leu82=	coding	Benign
7	30022941	A	G	A30022941G	FKBP14	NM_017946.3(FKBP14):c.198-125T>C	noncoding	Benign
7	30026344	G	A	G30026344A	FKBP14	NM_017946.4(FKBP14):c.165C>T:p.Tyr55=	coding	Benign
7	30026353	A	T	A30026353T	FKBP14	NM_017946.4(FKBP14):c.156T>A:p.Tyr52Ter	coding	Pathogenic
7	30026366	A	T	A30026366T	FKBP14	NM_017946.4(FKBP14):c.143T>A:p.Met48Lys	coding	Pathogenic
7	30026386	C	T	C30026386T	FKBP14	NM_017946.4(FKBP14):c.123G>A:p.Lys41=	coding	Benign/Likely_benign
7	30026475	G	C	G30026475C	FKBP14	NM_017946.4(FKBP14):c.34C>G:p.Leu12Val	coding	Benign
7	30027016	A	G	A30027016G	FKBP14	NM_017946.3(FKBP14):c.-508T>C	noncoding	Benign
7	30425677	G	C	G30425677C	NOD1	NM_006092.4(NOD1):c.2823C>G:p.Ala941=	coding	Benign
7	30452077	C	T	C30452077T	NOD1	NM_006092.4(NOD1):c.1340G>A:p.Arg447His	coding	Benign
7	30452303	C	T	C30452303T	NOD1	NM_006092.4(NOD1):c.1114G>A:p.Asp372Asn	coding	Benign
7	30452526	G	A	G30452526A	NOD1	NM_006092.4(NOD1):c.891C>T:p.Arg297=	coding	Benign
7	30497200	C	T	C30497200T	GGCT	NM_024051.4(GGCT):c.459G>A:p.Pro153=	coding	Benign
7	30594388	T	C	T30594388C	GARS1	NC_000007.14:g.30594388T>C	noncoding	Benign
7	30594504	T	A	T30594504A	GARS1	NC_000007.14:g.30594504T>A	noncoding	Benign
7	30594605	G	A	G30594605A	GARS1	NM_002047.3(GARS):c.-317G>A	noncoding	Benign
7	30594642	G	A	G30594642A	GARS1	NC_000007.14:g.30594642G>A	noncoding	Benign
7	30594697	G	A	G30594697A	GARS1	NM_002047.3(GARS):c.-225G>A	noncoding	Benign/Likely_benign
7	30594705	A	G	A30594705G	GARS1	NM_002047.3(GARS):c.-217A>G	noncoding	Benign
7	30594717	C	T	C30594717T	GARS1	NM_002047.3(GARS):c.-205C>T	noncoding	Benign/Likely_benign
7	30594745	T	C	T30594745C	GARS1	NM_001316772.1(GARS1):c.-339T>C	noncoding	Benign
7	30594853	T	A	T30594853A	GARS1	NM_001316772.1(GARS1):c.-231T>A	noncoding	Benign
7	30594886	C	A	C30594886A	GARS1	NM_002047.4(GARS1):c.-36C>A	noncoding	Benign/Likely_benign
7	30594932	C	T	C30594932T	GARS1	NM_002047.4(GARS1):c.11C>T:p.Pro4Leu	coding	Benign/Likely_benign
7	30594972	G	A	G30594972A	GARS1	NM_002047.4(GARS1):c.51G>A:p.Leu17=	coding	Benign/Likely_benign
7	30595014	G	C	G30595014C	GARS1	NM_002047.4(GARS1):c.93G>C:p.Leu31=	coding	Benign
7	30595016	T	C	T30595016C	GARS1	NM_002047.4(GARS1):c.95T>C:p.Leu32Pro	coding	Benign
7	30595045	C	G	C30595045G	GARS1	NM_002047.4(GARS1):c.124C>G:p.Pro42Ala	coding	Benign
7	30595065	C	T	C30595065T	GARS1	NM_002047.4(GARS1):c.144C>T:p.Ala48=	coding	Benign/Likely_benign
7	30595148	C	T	C30595148T	GARS1	NM_002047.4(GARS1):c.222+5C>T	noncoding	Benign
7	30598843	C	T	C30598843T	GARS1	NM_002047.4(GARS1):c.270C>T:p.Asp90=	coding	Benign/Likely_benign
7	30599156	T	G	T30599156G	GARS1	NM_002047.4(GARS1):c.324+259T>G	noncoding	Benign
7	30599995	G	A	G30599995A	GARS1	NM_002047.4(GARS1):c.373G>A:p.Glu125Lys	coding	Pathogenic
7	30600225	C	G	C30600225G	GARS1	NM_002047.4(GARS1):c.427+176C>G	noncoding	Benign
7	30600739	G	T	G30600739T	GARS1	NM_002047.4(GARS1):c.428-320G>T	noncoding	Benign
7	30600920	G	A	G30600920A	GARS1	NM_002047.4(GARS1):c.428-139G>A	noncoding	Benign
7	30601373	T	C	T30601373C	GARS1	NM_002047.4(GARS1):c.569+173T>C	noncoding	Benign
7	30603453	C	A	C30603453A	GARS1	NM_002047.4(GARS1):c.659-43C>A	noncoding	Benign
7	30603536	C	T	C30603536T	GARS1	NM_002047.4(GARS1):c.699C>T:p.Val233=	coding	Benign/Likely_benign
7	30609596	T	C	T30609596C	GARS1	NM_002047.4(GARS1):c.747T>C:p.Tyr249=	coding	Benign
7	30609615	G	C	G30609615C	GARS1	NM_002047.4(GARS1):c.766G>C:p.Asp256His	coding	Benign/Likely_benign
7	30609643	C	A	C30609643A	GARS1	NM_002047.4(GARS1):c.794C>A:p.Ser265Tyr	coding	Pathogenic
7	30609652	C	T	C30609652T	GARS1	NM_002047.4(GARS1):c.803C>T:p.Thr268Ile	coding	Benign/Likely_benign
7	30609724	T	G	T30609724G	GARS1	NM_002047.4(GARS1):c.875T>G:p.Met292Arg	coding	Pathogenic
7	30609729	G	C	G30609729C	GARS1	NM_002047.4(GARS1):c.880G>C:p.Gly294Arg	coding	Pathogenic
7	30610020	T	C	T30610020C	GARS1	NM_002047.4(GARS1):c.881+290T>C	noncoding	Benign
7	30612107	C	T	C30612107T	GARS1	NM_002047.4(GARS1):c.893C>T:p.Pro298Leu	coding	Pathogenic
7	30612143	G	A	G30612143A	GARS1	NM_002047.4(GARS1):c.929G>A:p.Arg310Gln	coding	Pathogenic
7	30612214	A	T	A30612214T	GARS1	NM_002047.4(GARS1):c.1000A>T:p.Ile334Phe	coding	Pathogenic
7	30612215	T	A	T30612215A	GARS1	NM_002047.4(GARS1):c.1001T>A:p.Ile334Asn	coding	Pathogenic
7	30612215	T	G	T30612215G	GARS1	NM_002047.4(GARS1):c.1001T>G:p.Ile334Ser	coding	Pathogenic
7	30612246	G	A	G30612246A	GARS1	NM_002047.4(GARS1):c.1031+1G>A	coding	Pathogenic
7	30612259	T	G	T30612259G	GARS1	NM_002047.4(GARS1):c.1031+14T>G	noncoding	Benign/Likely_benign
7	30612474	C	T	C30612474T	GARS1	NM_002047.4(GARS1):c.1031+229C>T	noncoding	Benign
7	30615747	A	T	A30615747T	GARS1	NM_002047.4(GARS1):c.1032-149A>T	noncoding	Benign
7	30615873	A	T	A30615873T	GARS1	NM_002047.4(GARS1):c.1032-23A>T	noncoding	Benign
7	30615926	T	C	T30615926C	GARS1	NM_002047.4(GARS1):c.1062T>C:p.Phe354=	coding	Benign
7	30616027	G	A	G30616027A	GARS1	NM_002047.4(GARS1):c.1163G>A:p.Arg388Gln	coding	Benign/Likely_benign
7	30617577	A	G	A30617577G	GARS1	NM_002047.4(GARS1):c.1359+299A>G	noncoding	Benign
7	30621448	A	G	A30621448G	GARS1	NM_002047.4(GARS1):c.1415A>G:p.His472Arg	coding	Pathogenic
7	30621453	C	A	C30621453A	GARS1	NM_002047.4(GARS1):c.1420C>A:p.Arg474=	coding	Benign/Likely_benign
7	30621830	A	C	A30621830C	GARS1	NM_002047.4(GARS1):c.1467+330A>C	noncoding	Benign
7	30622032	T	C	T30622032C	GARS1	NM_002047.4(GARS1):c.1468-285T>C	noncoding	Benign
7	30622471	T	C	T30622471C	GARS1	NM_002047.4(GARS1):c.1613+9T>C	noncoding	Benign
7	30622558	C	T	C30622558T	GARS1	NM_002047.4(GARS1):c.1613+96C>T	noncoding	Benign
7	30622621	G	A	G30622621A	GARS1	NM_002047.4(GARS1):c.1613+159G>A	noncoding	Benign
7	30625963	A	G	A30625963G	GARS1	NM_002047.4(GARS1):c.1614-271A>G	noncoding	Benign
7	30626230	G	A	G30626230A	GARS1	NM_002047.4(GARS1):c.1614-4G>A	noncoding	Benign/Likely_benign
7	30628584	T	C	T30628584C	GARS1	NM_002047.4(GARS1):c.1724T>C:p.Ile575Thr	coding	Benign
7	30628621	G	A	G30628621A	GARS1	NM_002047.4(GARS1):c.1761G>A:p.Thr587=	coding	Benign
7	30628670	G	A	G30628670A	GARS1	NM_002047.4(GARS1):c.1809+1G>A	coding	Pathogenic
7	30631471	T	C	T30631471C	GARS1	NM_002047.4(GARS1):c.1833T>C:p.Val611=	coding	Benign
7	30632266	T	C	T30632266C	GARS1	NM_002047.4(GARS1):c.1923T>C:p.His641=	coding	Benign/Likely_benign
7	30632297	G	C	G30632297C	GARS1	NM_002047.4(GARS1):c.1954G>C:p.Gly652Arg	coding	Pathogenic
7	30632305	C	T	C30632305T	GARS1	NM_002047.4(GARS1):c.1962C>T:p.Ile654=	coding	Benign/Likely_benign
7	30632714	G	A	G30632714A	GARS1	NM_002047.4(GARS1):c.2094+277G>A	noncoding	Benign
7	30633729	C	T	C30633729T	GARS1	NM_002047.4(GARS1):c.2095-6C>T	noncoding	Benign
7	30633785	A	G	A30633785G	GARS1	NM_002047.4(GARS1):c.2145A>G:p.Thr715=	coding	Benign
7	30633830	G	A	G30633830A	GARS1	NM_002047.4(GARS1):c.2190G>A:p.Glu730=	coding	Benign
7	30633852	G	A	G30633852A	GARS1	NM_002047.4(GARS1):c.2212G>A:p.Glu738Lys	coding	Benign/Likely_benign
7	30633927	C	G	C30633927G	GARS1	NM_002047.4(GARS1):c.*67C>G	noncoding	Benign
7	30633933	A	G	A30633933G	GARS1	NM_002047.4(GARS1):c.*73A>G	noncoding	Benign
7	30653465	C	T	C30653465T	CRHR2	NM_001883.5(CRHR2):c.1231G>A:p.Val411Met	coding	Benign
7	30689279	G	A	G30689279A	CRHR2	NM_001202481.1(CRHR2):c.-255C>T	coding	Benign
7	30753828	C	T	C30753828T	INMT	NM_006774.5(INMT):c.252C>T:p.Ser84=	coding	Benign
7	30753915	C	T	C30753915T	INMT	NM_006774.5(INMT):c.339C>T:p.Phe113=	coding	Benign
7	30753916	G	A	G30753916A	INMT	NM_006774.5(INMT):c.340G>A:p.Ala114Thr	coding	Benign
7	30755426	C	T	C30755426T	INMT	NM_006774.5(INMT):c.367C>T:p.Arg123Ter	coding	Benign
7	30755494	G	A	G30755494A	INMT	NM_006774.5(INMT):c.435G>A:p.Leu145=	coding	Benign
7	30755626	G	A	G30755626A	INMT	NM_006774.5(INMT):c.567G>A:p.Pro189=	coding	Benign
7	30755850	G	C	G30755850C	INMT	NM_006774.5(INMT):c.791G>C:p.Ter264Ser	coding	Benign
7	30912022	C	T	C30912022T	AQP1	NM_198098.3(AQP1):c.113C>T:p.Pro38Leu	coding	Pathogenic
7	30912043	C	T	C30912043T	AQP1	NM_198098.3(AQP1):c.134C>T:p.Ala45Val	coding	Benign
7	30912089	C	T	C30912089T	AQP1	NM_198098.3(AQP1):c.180C>T:p.Ile60=	coding	Benign
7	30964024	C	T	C30964024T	GHRHR	NM_000823.4(GHRHR):c.-45C>T	noncoding	Benign
7	30964126	G	A	G30964126A	GHRHR	NM_000823.4(GHRHR):c.57+1G>A	coding	Pathogenic
7	30969071	G	A	G30969071A	GHRHR	NM_000823.4(GHRHR):c.169G>A:p.Ala57Thr	coding	Benign
7	30969096	G	A	G30969096A	GHRHR	NM_000823.4(GHRHR):c.194G>A:p.Trp65Ter	coding	Pathogenic
7	30969116	G	T	G30969116T	GHRHR	NM_000823.4(GHRHR):c.214G>T:p.Glu72Ter	coding	Pathogenic
7	30969961	G	T	G30969961T	GHRHR	NM_000823.4(GHRHR):c.363G>T:p.Glu121Asp	coding	Benign
7	30969977	T	G	T30969977G	GHRHR	NM_000823.4(GHRHR):c.366+13T>G	noncoding	Benign
7	30971183	T	A	T30971183A	GHRHR	NM_000823.4(GHRHR):c.431T>A:p.Leu144His	coding	Pathogenic
7	30972062	C	T	C30972062T	GHRHR	NM_000823.4(GHRHR):c.564C>T:p.His188=	coding	Benign
7	30973975	T	C	T30973975C	GHRHR	NM_000823.4(GHRHR):c.598-10T>C	noncoding	Benign
7	30974052	C	A	C30974052A	GHRHR	NM_000823.4(GHRHR):c.665C>A:p.Ala222Glu	coding	Pathogenic
7	30974060	G	A	G30974060A	GHRHR	NM_000823.4(GHRHR):c.673G>A:p.Val225Ile	coding	Benign
7	30974112	T	G	T30974112G	GHRHR	NM_000823.4(GHRHR):c.725T>G:p.Phe242Cys	coding	Pathogenic
7	30976439	A	G	A30976439G	GHRHR	NM_000823.4(GHRHR):c.985A>G:p.Lys329Glu	coding	Pathogenic
7	30979237	T	C	T30979237C	GHRHR	NM_000823.4(GHRHR):c.1265T>C:p.Met422Thr	coding	Benign
7	30979465	T	C	T30979465C	GHRHR	NM_000823.4(GHRHR):c.*221T>C	noncoding	Benign
7	31008681	G	T	G31008681T	GHRHR	NC_000007.14:g.31008681G>T	noncoding	Pathogenic
7	31064825	C	T	C31064825T	ADCYAP1R1	NM_001118.5(ADCYAP1R1):c.52-6C>T	noncoding	Benign
7	31078019	G	A	G31078019A	ADCYAP1R1	NM_001118.5(ADCYAP1R1):c.186G>A:p.Thr62=	coding	Benign
7	31692470	T	G	T31692470G	PPP1R17	NM_006658.5(PPP1R17):c.29T>G:p.Leu10Arg	coding	Benign
7	31753535	C	T	C31753535T	PDE1C	NM_001191057.4(PDE1C):c.1979G>A:p.Arg660His	coding	Benign
7	31775671	C	G	C31775671G	PDE1C	NM_001191057.4(PDE1C):c.1953G>C:p.Thr651=	coding	Benign
7	31850714	C	A	C31850714A	PDE1C	NM_001191057.4(PDE1C):c.778G>T:p.Ala260Ser	coding	Pathogenic/Likely_pathogenic
7	31873376	G	A	G31873376A	PDE1C	NM_001191057.4(PDE1C):c.525C>T:p.Ser175=	coding	Benign
7	31879055	G	A	G31879055A	PDE1C	NM_001191057.4(PDE1C):c.366C>T:p.Asp122=	coding	Benign
7	32169814	G	A	G32169814A	PDE1C	NM_001322059.1(PDE1C):c.504C>T:p.Ser168=	coding	Benign
7	33015703	C	T	C33015703T	NT5C3A	NM_001002010.5(NT5C3A):c.861G>A:p.Glu287=	coding	Benign
7	33015741	C	G	C33015741G	NT5C3A	NM_016489.13(NT5C3A):c.721G>C:p.Gly241Arg	coding	Pathogenic
7	33015871	C	A	C33015871A	NT5C3A	NM_016489.13(NT5C3A):c.592-1G>T	coding	Pathogenic
7	33015871	C	G	C33015871G	NT5C3A	NM_016489.13(NT5C3A):c.592-1G>C	coding	Pathogenic
7	33017461	T	C	T33017461C	NT5C3A	NM_016489.13(NT5C3A):c.569A>G:p.Asn190Ser	coding	Pathogenic
7	33017487	A	C	A33017487C	NT5C3A	NM_016489.13(NT5C3A):c.543T>G:p.Tyr181Ter	coding	Pathogenic
7	33017501	G	A	G33017501A	NT5C3A	NM_016489.13(NT5C3A):c.529C>T:p.Gln177Ter	coding	Pathogenic
7	33021263	T	C	T33021263C	NT5C3A	NM_001002010.5(NT5C3A):c.440+9A>G	noncoding	Benign
7	33021304	A	G	A33021304G	NT5C3A	NM_001002010.5(NT5C3A):c.408T>C:p.Thr136=	coding	Benign
7	33021317	T	A	T33021317A	NT5C3A	NM_016489.13(NT5C3A):c.293A>T:p.Asp98Val	coding	Pathogenic
7	33021334	A	G	A33021334G	NT5C3A	NM_016489.13(NT5C3A):c.276T>C:p.Tyr92=	coding	Benign
7	33094814	G	C	G33094814C	RP9	NM_203288.2(RP9):c.*420C>G	noncoding	Benign
7	33095271	T	C	T33095271C	RP9	NM_203288.2(RP9):c.629A>G:p.Lys210Arg	coding	Benign
7	33096497	C	T	C33096497T	RP9	NM_203288.2(RP9):c.463G>A:p.Val155Ile	coding	Benign
7	33096501	C	T	C33096501T	RP9	NM_203288.2(RP9):c.459G>A:p.Lys153=	coding	Benign
7	33097371	G	A	G33097371A	RP9	NM_203288.2(RP9):c.314-9C>T	noncoding	Benign
7	33099404	T	C	T33099404C	RP9	NM_203288.2(RP9):c.216A>G:p.Pro72=	coding	Benign/Likely_benign
7	33100558	G	A	G33100558A	RP9	NM_203288.2(RP9):c.156C>T:p.Tyr52=	coding	Benign
7	33129624	G	C	G33129624C	BBS9	NM_198428.3(BBS9):c.-429G>C	noncoding	Benign
7	33129646	C	G	C33129646G	BBS9	NM_198428.3(BBS9):c.-407C>G	noncoding	Benign
7	33129794	G	A	G33129794A	BBS9	NM_198428.3(BBS9):c.-259G>A	noncoding	Benign
7	33130048	T	C	T33130048C	BBS9	NM_198428.3(BBS9):c.-12+7T>C	noncoding	Benign
7	33146286	A	G	A33146286G	BBS9	NM_198428.3(BBS9):c.34A>G:p.Thr12Ala	coding	Benign
7	33152699	A	G	A33152699G	BBS9	NM_198428.3(BBS9):c.113-2A>G	noncoding	Pathogenic
7	33152778	C	T	C33152778T	BBS9	NM_198428.3(BBS9):c.190C>T:p.Gln64Ter	coding	Pathogenic
7	33152811	C	T	C33152811T	BBS9	NM_198428.3(BBS9):c.223C>T:p.Arg75Ter	coding	Pathogenic/Likely_pathogenic
7	33152851	C	A	C33152851A	BBS9	NM_198428.3(BBS9):c.263C>A:p.Ser88Ter	coding	Pathogenic/Likely_pathogenic
7	33152852	G	A	G33152852A	BBS9	NM_198428.3(BBS9):c.263+1G>A	coding	Pathogenic
7	33152855	A	G	A33152855G	BBS9	NM_198428.3(BBS9):c.263+4A>G	noncoding	Pathogenic
7	33152890	A	G	A33152890G	BBS9	NM_198428.3(BBS9):c.263+39A>G	noncoding	Benign
7	33155644	C	T	C33155644T	BBS9	NM_198428.3(BBS9):c.270C>T:p.Thr90=	coding	Benign/Likely_benign
7	33155724	G	A	G33155724A	BBS9	NM_198428.3(BBS9):c.328+22G>A	noncoding	Benign
7	33177539	T	C	T33177539C	BBS9	NM_198428.3(BBS9):c.390T>C:p.Asn130=	coding	Benign
7	33177570	G	A	G33177570A	BBS9	NM_198428.3(BBS9):c.421G>A:p.Gly141Arg	coding	Pathogenic
7	33177592	G	C	G33177592C	BBS9	NM_198428.3(BBS9):c.442+1G>C	coding	Pathogenic
7	33257238	C	T	C33257238T	BBS9	NM_198428.3(BBS9):c.445C>T:p.Arg149Ter	coding	Pathogenic
7	33257324	C	A	C33257324A	BBS9	NM_198428.3(BBS9):c.531C>A:p.Gly177=	coding	Benign
7	33257348	C	T	C33257348T	BBS9	NM_198428.3(BBS9):c.555C>T:p.Ala185=	coding	Benign
7	33264350	A	G	A33264350G	BBS9	NM_198428.3(BBS9):c.678A>G:p.Lys226=	coding	Benign/Likely_benign
7	33264407	A	G	A33264407G	BBS9	NM_198428.3(BBS9):c.702+33A>G	noncoding	Benign
7	33273036	G	A	G33273036A	BBS9	NM_198428.3(BBS9):c.727G>A:p.Glu243Lys	coding	Pathogenic
7	33273141	C	T	C33273141T	BBS9	NM_198428.3(BBS9):c.832C>T:p.Arg278Ter	coding	Pathogenic
7	33336435	T	C	T33336435C	BBS9	NM_198428.3(BBS9):c.1017-6T>C	noncoding	Benign
7	33336453	A	G	A33336453G	BBS9	NM_198428.3(BBS9):c.1029A>G:p.Gly343=	coding	Benign/Likely_benign
7	33336487	C	T	C33336487T	BBS9	NM_198428.3(BBS9):c.1063C>T:p.Gln355Ter	coding	Pathogenic
7	33336534	C	T	C33336534T	BBS9	NM_198428.3(BBS9):c.1110C>T:p.Asn370=	coding	Benign
7	33336562	G	T	G33336562T	BBS9	NM_198428.3(BBS9):c.1138G>T:p.Glu380Ter	coding	Pathogenic
7	33340943	C	T	C33340943T	BBS9	NM_198428.3(BBS9):c.1245C>T:p.Val415=	coding	Benign/Likely_benign
7	33340944	G	A	G33340944A	BBS9	NM_198428.3(BBS9):c.1246G>A:p.Val416Met	coding	Benign/Likely_benign
7	33340986	G	T	G33340986T	BBS9	NM_198428.3(BBS9):c.1275+13G>T	noncoding	Benign
7	33341001	G	T	G33341001T	BBS9	NM_198428.3(BBS9):c.1275+28G>T	noncoding	Benign
7	33344589	C	T	C33344589T	BBS9	NM_198428.3(BBS9):c.1284C>T:p.Thr428=	coding	Benign/Likely_benign
7	33346240	C	T	C33346240T	BBS9	NM_198428.3(BBS9):c.1329+1606C>T	noncoding	Benign
7	33349101	G	A	G33349101A	BBS9	NM_198428.3(BBS9):c.1363G>A:p.Ala455Thr	coding	Benign
7	33349108	T	A	T33349108A	BBS9	NM_198428.3(BBS9):c.1370T>A:p.Leu457Ter	coding	Pathogenic
7	33349161	G	T	G33349161T	BBS9	NM_198428.3(BBS9):c.1423G>T:p.Glu475Ter	coding	Pathogenic
7	33349177	T	G	T33349177G	BBS9	NM_198428.3(BBS9):c.1432+7T>G	noncoding	Benign
7	33349217	T	A	T33349217A	BBS9	NM_198428.3(BBS9):c.1432+47T>A	noncoding	Benign
7	33352867	C	A	C33352867A	BBS9	NM_198428.3(BBS9):c.1546C>A:p.Pro516Thr	coding	Benign
7	33357864	G	A	G33357864A	BBS9	NM_198428.3(BBS9):c.1562G>A:p.Arg521Gln	coding	Benign
7	33357908	C	T	C33357908T	BBS9	NM_198428.3(BBS9):c.1606C>T:p.Leu536=	coding	Benign/Likely_benign
7	33357948	C	T	C33357948T	BBS9	NM_198428.3(BBS9):c.1646C>T:p.Thr549Ile	coding	Benign
7	33357950	A	G	A33357950G	BBS9	NM_198428.3(BBS9):c.1648A>G:p.Ile550Val	coding	Benign/Likely_benign
7	33357996	G	A	G33357996A	BBS9	NM_198428.3(BBS9):c.1693+1G>A	coding	Pathogenic
7	33367761	T	C	T33367761C	BBS9	NM_198428.3(BBS9):c.1694-6T>C	noncoding	Benign
7	33367832	C	T	C33367832T	BBS9	NM_198428.3(BBS9):c.1759C>T:p.Arg587Ter	coding	Pathogenic
7	33367863	G	A	G33367863A	BBS9	NM_198428.3(BBS9):c.1789+1G>A	coding	Pathogenic
7	33383668	C	T	C33383668T	BBS9	NM_198428.3(BBS9):c.1792C>T:p.Arg598Ter	coding	Pathogenic
7	33383725	A	C	A33383725C	BBS9	NM_198428.3(BBS9):c.1849A>C:p.Ile617Leu	coding	Benign/Likely_benign
7	33388022	C	T	C33388022T	BBS9	NM_198428.3(BBS9):c.1993C>T:p.Leu665Phe	coding	Benign/Likely_benign
7	33388115	G	A	G33388115A	BBS9	NM_198428.3(BBS9):c.2086G>A:p.Asp696Asn	coding	Benign
7	33388145	G	A	G33388145A	BBS9	NM_198428.3(BBS9):c.2115+1G>A	coding	Pathogenic
7	33505563	C	T	C33505563T	BBS9	NM_198428.3(BBS9):c.2216C>T:p.Ala739Val	coding	Benign/Likely_benign
7	33505567	G	A	G33505567A	BBS9	NM_198428.3(BBS9):c.2220G>A:p.Leu740=	coding	Benign
7	33533934	A	C	A33533934C	BBS9	NM_198428.3(BBS9):c.2299-20A>C	noncoding	Benign
7	33534125	C	T	C33534125T	BBS9	NM_198428.3(BBS9):c.2470C>T:p.Arg824Cys	coding	Benign/Likely_benign
7	33604984	C	A	C33604984A	BBS9	NM_198428.3(BBS9):c.2632+9C>A	noncoding	Benign/Likely_benign
7	33605329	T	C	T33605329C	BBS9	NM_198428.3(BBS9):c.*103T>C	noncoding	Benign
7	33605336	C	T	C33605336T	BBS9	NM_198428.3(BBS9):c.*110C>T	noncoding	Benign
7	33605364	A	C	A33605364C	BBS9	NM_198428.3(BBS9):c.*138A>C	noncoding	Benign
7	33605597	G	A	G33605597A	BBS9	NM_198428.3(BBS9):c.*371G>A	noncoding	Benign
7	33605679	C	G	C33605679G	BBS9	NM_198428.3(BBS9):c.*453C>G	noncoding	Benign
7	33605775	A	G	A33605775G	BBS9	NM_198428.3(BBS9):c.*549A>G	noncoding	Benign
7	33904972	G	C	G33904972C	BMPER	NM_133468.5(BMPER):c.-313G>C	noncoding	Benign
7	33905022	G	A	G33905022A	BMPER	NM_133468.5(BMPER):c.-263G>A	noncoding	Benign
7	33905055	G	A	G33905055A	BMPER	NM_133468.5(BMPER):c.-230G>A	noncoding	Benign
7	33905074	G	A	G33905074A	BMPER	NM_133468.5(BMPER):c.-211G>A	noncoding	Benign
7	33905148	A	G	A33905148G	BMPER	NM_133468.5(BMPER):c.-141+4A>G	noncoding	Benign
7	33905589	C	A	C33905589A	BMPER	NM_001365308.1(BMPER):c.-25C>A	noncoding	Benign
7	33905755	G	C	G33905755C	BMPER	NM_001365308.1(BMPER):c.133+9G>C	noncoding	Benign
7	33970334	C	T	C33970334T	BMPER	NM_001365308.1(BMPER):c.408C>T:p.Gly136=	coding	Benign
7	33970336	T	A	T33970336A	BMPER	NM_001365308.1(BMPER):c.410T>A:p.Val137Asp	coding	Pathogenic/Likely_pathogenic
7	33970343	A	T	A33970343T	BMPER	NM_001365308.1(BMPER):c.417A>T:p.Thr139=	coding	Benign/Likely_benign
7	33970400	G	A	G33970400A	BMPER	NM_001365308.1(BMPER):c.474G>A:p.Met158Ile	coding	Benign
7	34046309	G	A	G34046309A	BMPER	NM_001365308.1(BMPER):c.580G>A:p.Gly194Ser	coding	Benign
7	34051958	T	G	T34051958G	BMPER	NM_001365308.1(BMPER):c.774T>G:p.Ala258=	coding	Benign
7	34055301	C	T	C34055301T	BMPER	NM_001365308.1(BMPER):c.925C>T:p.Gln309Ter	coding	Pathogenic
7	34078864	C	T	C34078864T	BMPER	NM_001365308.1(BMPER):c.1086C>T:p.Gly362=	coding	Benign
7	34078887	C	T	C34078887T	BMPER	NM_001365308.1(BMPER):c.1109C>T:p.Pro370Leu	coding	Pathogenic
7	34085808	G	T	G34085808T	BMPER	NM_001365308.1(BMPER):c.1461G>T:p.Pro487=	coding	Benign
7	34085924	G	A	G34085924A	BMPER	NM_001365308.1(BMPER):c.1577G>A:p.Trp526Ter	coding	Pathogenic
7	34085985	T	A	T34085985A	BMPER	NM_001365308.1(BMPER):c.1638T>A:p.Cys546Ter	coding	Pathogenic
7	34086010	C	T	C34086010T	BMPER	NM_001365308.1(BMPER):c.1663C>T:p.Arg555Trp	coding	Benign/Likely_benign
7	34143281	C	T	C34143281T	BMPER	NM_001365308.1(BMPER):c.1797C>T:p.Cys599=	coding	Benign/Likely_benign
7	34153135	G	A	G34153135A	BMPER	NM_001365308.1(BMPER):c.1920G>A:p.Pro640=	coding	Benign
7	34153150	G	C	G34153150C	BMPER	NM_001365308.1(BMPER):c.1935G>C:p.Thr645=	coding	Benign
7	34153284	G	A	G34153284A	BMPER	NM_001365308.1(BMPER):c.*11G>A	noncoding	Benign
7	34153551	T	C	T34153551C	BMPER	NM_001365308.1(BMPER):c.*278T>C	noncoding	Benign
7	34153657	T	G	T34153657G	BMPER	NM_001365308.1(BMPER):c.*384T>G	noncoding	Benign
7	34153795	G	A	G34153795A	BMPER	NM_001365308.1(BMPER):c.*522G>A	noncoding	Benign
7	34153951	G	T	G34153951T	BMPER	NM_001365308.1(BMPER):c.*678G>T	noncoding	Benign
7	34153977	A	G	A34153977G	BMPER	NM_001365308.1(BMPER):c.*704A>G	noncoding	Benign
7	34154340	C	T	C34154340T	BMPER	NM_001365308.1(BMPER):c.*1067C>T	noncoding	Benign
7	34154490	A	G	A34154490G	BMPER	NM_001365308.1(BMPER):c.*1217A>G	noncoding	Benign
7	34154535	C	T	C34154535T	BMPER	NM_001365308.1(BMPER):c.*1262C>T	noncoding	Benign
7	34154976	C	T	C34154976T	BMPER	NM_001365308.1(BMPER):c.*1703C>T	noncoding	Benign
7	34155491	C	T	C34155491T	BMPER	NM_001365308.1(BMPER):c.*2218C>T	noncoding	Benign
7	34684545	C	G	C34684545G	NPSR1	NM_207172.2(NPSR1):c.148-7C>G	noncoding	Benign
7	34778526	G	A	G34778526A	NPSR1	NM_207172.2(NPSR1):c.345G>A:p.Thr115=	coding	Benign
7	34811812	A	G	A34811812G	NPSR1	NM_207172.2(NPSR1):c.427A>G:p.Ser143Gly	coding	Benign
7	35202757	T	G	T35202757G	TBX20	NM_001077653.2(TBX20):c.1017A>C:p.Thr339=	coding	Benign
7	35240927	G	T	G35240927T	TBX20	NM_001077653.2(TBX20):c.765C>A:p.Ile255=	coding	Benign
7	35245020	G	A	G35245020A	TBX20	NM_001077653.2(TBX20):c.583C>T:p.Gln195Ter	coding	Pathogenic
7	35248721	G	A	G35248721A	TBX20	NM_001077653.2(TBX20):c.501C>T:p.Ser167=	coding	Benign
7	35249968	G	C	G35249968C	TBX20	NM_001077653.2(TBX20):c.363C>G:p.Ile121Met	coding	Pathogenic
7	35253582	A	G	A35253582G	TBX20	NM_001077653.2(TBX20):c.39T>C:p.Ser13=	coding	Benign
7	35903153	C	T	C35903153T	SEPTIN7	NM_001788.5(SEPTIN7):c.1212C>T:p.Phe404=	coding	Benign
7	36406246	A	C	A36406246C	ANLN	NM_018685.5(ANLN):c.553A>C:p.Arg185=	coding	Benign
7	36406247	G	A	G36406247A	ANLN	NM_018685.5(ANLN):c.554G>A:p.Arg185Lys	coding	Benign
7	36411062	C	T	C36411062T	ANLN	NM_018685.5(ANLN):c.1291C>T:p.Arg431Cys	coding	Pathogenic
7	36419458	A	G	A36419458G	ANLN	NM_018685.5(ANLN):c.1848A>G:p.Thr616=	coding	Benign
7	36419462	G	T	G36419462T	ANLN	NM_018685.5(ANLN):c.1852G>T:p.Gly618Cys	coding	Pathogenic
7	36421886	G	A	G36421886A	ANLN	NM_018685.5(ANLN):c.2193G>A:p.Gln731=	coding	Benign
7	36422818	G	A	G36422818A	ANLN	NM_018685.5(ANLN):c.2476+9G>A	noncoding	Benign
7	36425722	C	G	C36425722G	ANLN	NM_018685.5(ANLN):c.2730C>G:p.Leu910=	coding	Benign
7	36426962	C	T	C36426962T	ANLN	NM_018685.5(ANLN):c.2817C>T:p.Phe939=	coding	Benign
7	36427046	C	A	C36427046A	ANLN	NM_018685.5(ANLN):c.2883+18C>A	noncoding	Benign
7	37222607	C	G	C37222607G	ELMO1	NM_001206480.2(ELMO1):c.780+8G>C	noncoding	Benign
7	37740834	G	A	G37740834A	GPR141	NM_001329993.2(GPR141):c.441G>A:p.Val147=	coding	Benign
7	37850479	G	A	G37850479A	NME8	NM_016616.5(NME8):c.91+44G>A	noncoding	Benign
7	37850663	C	T	C37850663T	NME8	NM_016616.5(NME8):c.126C>T:p.Cys42=	coding	Benign
7	37850665	G	A	G37850665A	NME8	NM_016616.5(NME8):c.128G>A:p.Arg43Lys	coding	Benign
7	37850714	C	T	C37850714T	NME8	NM_016616.5(NME8):c.177C>T:p.Asp59=	coding	Benign
7	37857294	G	A	G37857294A	NME8	NM_016616.5(NME8):c.219G>A:p.Val73=	coding	Benign
7	37861979	G	A	G37861979A	NME8	NM_016616.5(NME8):c.271-49G>A	noncoding	Benign
7	37862001	C	T	C37862001T	NME8	NM_016616.4(NME8):c.271-27C>T	noncoding	Benign/Likely_benign
7	37862014	C	T	C37862014T	NME8	NM_016616.5(NME8):c.271-14C>T	noncoding	Benign
7	37862025	T	C	T37862025C	NME8	NM_016616.5(NME8):c.271-3T>C	noncoding	Benign/Likely_benign
7	37864302	C	T	C37864302T	NME8	NM_016616.5(NME8):c.455-46C>T	noncoding	Benign
7	37864432	T	C	T37864432C	NME8	NM_016616.5(NME8):c.528+11T>C	noncoding	Benign/Likely_benign
7	37867702	T	C	T37867702C	NME8	NM_016616.5(NME8):c.622T>C:p.Cys208Arg	coding	Benign
7	37867819	G	A	G37867819A	NME8	NM_016616.5(NME8):c.739G>A:p.Glu247Lys	coding	Benign
7	37867827	C	T	C37867827T	NME8	NM_016616.5(NME8):c.747C>T:p.Asn249=	coding	Benign
7	37867925	T	C	T37867925C	NME8	NM_016616.5(NME8):c.818+27T>C	noncoding	Benign
7	37876853	A	G	A37876853G	NME8	NM_016616.5(NME8):c.840A>G:p.Arg280=	coding	Benign
7	37877026	A	G	A37877026G	NME8	NM_016616.5(NME8):c.994+19A>G	noncoding	Benign
7	37884315	G	A	G37884315A	NME8	NM_016616.5(NME8):c.1007G>A:p.Arg336His	coding	Benign
7	37884321	T	C	T37884321C	NME8	NM_016616.5(NME8):c.1013T>C:p.Ile338Thr	coding	Benign
7	37884385	A	G	A37884385G	NME8	NM_016616.5(NME8):c.1077A>G:p.Gln359=	coding	Benign/Likely_benign
7	37885135	T	G	T37885135G	NME8	NM_016616.5(NME8):c.1140-10T>G	noncoding	Benign
7	37885277	A	G	A37885277G	NME8	NM_016616.5(NME8):c.1247+25A>G	noncoding	Benign
7	37885286	C	T	C37885286T	NME8	NM_016616.5(NME8):c.1247+34C>T	noncoding	Benign
7	37888306	T	A	T37888306A	NME8	NM_016616.5(NME8):c.1277T>A:p.Leu426Ter	coding	Pathogenic
7	37888346	C	T	C37888346T	NME8	NM_016616.5(NME8):c.1317C>T:p.Thr439=	coding	Benign
7	37894471	A	C	A37894471C	NME8	NM_016616.5(NME8):c.1405A>C:p.Ile469Leu	coding	Benign/Likely_benign
7	37894544	T	C	T37894544C	NME8	NM_016616.5(NME8):c.1478T>C:p.Ile493Thr	coding	Benign
7	37894545	A	T	A37894545T	NME8	NM_016616.5(NME8):c.1479A>T:p.Ile493=	coding	Benign
7	37894632	G	A	G37894632A	NME8	NM_016616.5(NME8):c.1544+22G>A	noncoding	Benign
7	37896928	T	C	T37896928C	NME8	NM_016616.5(NME8):c.1603T>C:p.Leu535=	coding	Benign
7	37907482	C	G	C37907482G	SFRP4	NM_003014.4(SFRP4):c.1038G>C:p.Val346=	coding	Benign
7	37912216	G	A	G37912216A	SFRP4	NM_003014.3(SFRP4):c.694C>T	coding	Pathogenic
7	37916436	G	A	G37916436A	SFRP4	NM_003014.4(SFRP4):c.102C>T:p.His34=	coding	Benign
7	38394163	C	A	C38394163A	AMPH	NM_001635.4(AMPH):c.1450G>T:p.Ala484Ser	coding	Benign
7	38436278	C	G	C38436278G	AMPH	NM_001635.4(AMPH):c.1128G>C:p.Met376Ile	coding	Benign
7	38767569	C	G	C38767569G	VPS41	NM_014396.4(VPS41):c.1215G>C:p.Leu405=	coding	Benign
7	39339703	G	T	G39339703T	POU6F2	NM_007252.4(POU6F2):c.573G>T:p.Gln191His	coding	Pathogenic
7	39339735	A	G	A39339735G	POU6F2	NM_001370959.1(POU6F2):c.692A>G:p.Asn231Ser	coding	Benign
7	39339864	C	T	C39339864T	POU6F2	NM_001370959.1(POU6F2):c.821C>T:p.Ala274Val	coding	Benign
7	39451661	C	T	C39451661T	POU6F2	NM_001370959.1(POU6F2):c.1449C>T:p.Ser483=	coding	Benign
7	39460722	C	T	C39460722T	POU6F2	NM_001370959.1(POU6F2):c.1658+7C>T	noncoding	Benign
7	39464525	G	A	G39464525A	POU6F2	NM_001370959.1(POU6F2):c.2002G>A:p.Glu668Lys	coding	Benign
7	39572602	C	T	C39572602T	YAE1	NM_020192.5(YAE1):c.577C>T:p.His193Tyr	coding	Benign
7	39686740	G	A	G39686740A	RALA	NM_005402.4(RALA):c.73G>A:p.Val25Met	coding	Pathogenic
7	39950756	C	T	C39950756T	CDK13	NM_003718.5(CDK13):c.115C>T:p.Leu39=	coding	Benign
7	39951283	C	T	C39951283T	CDK13	NM_003718.5(CDK13):c.642C>T:p.Arg214=	coding	Benign
7	39951532	C	T	C39951532T	CDK13	NM_003718.5(CDK13):c.891C>T:p.Pro297=	coding	Benign
7	39951707	C	G	C39951707G	CDK13	NM_003718.5(CDK13):c.1066C>G:p.Pro356Ala	coding	Benign/Likely_benign
7	39951848	C	T	C39951848T	CDK13	NM_003718.5(CDK13):c.1207C>T:p.Leu403Phe	coding	Benign
7	39987647	A	G	A39987647G	CDK13	NM_003718.5(CDK13):c.1260A>G:p.Ser420=	coding	Benign
7	39988058	C	T	C39988058T	CDK13	NM_003718.5(CDK13):c.1671C>T:p.Ala557=	coding	Benign
7	39988220	T	G	T39988220G	CDK13	NM_003718.5(CDK13):c.1833T>G:p.Pro611=	coding	Benign
7	39988257	A	G	A39988257G	CDK13	NM_003718.5(CDK13):c.1870A>G:p.Ser624Gly	coding	Benign
7	39997631	C	G	C39997631G	CDK13	NM_003718.5(CDK13):c.2009C>G:p.Thr670Arg	coding	Benign
7	39997649	G	A	G39997649A	CDK13	NM_003718.5(CDK13):c.2027G>A:p.Ser676Asn	coding	Benign
7	39999442	C	T	C39999442T	CDK13	NM_003718.5(CDK13):c.2124C>T:p.Ile708=	coding	Benign
7	39999458	G	C	G39999458C	CDK13	NM_003718.5(CDK13):c.2140G>C:p.Gly714Arg	coding	Pathogenic
7	39999459	G	A	G39999459A	CDK13	NM_003718.5(CDK13):c.2141G>A:p.Gly714Asp	coding	Pathogenic
7	39999467	G	A	G39999467A	CDK13	NM_003718.5(CDK13):c.2149G>A:p.Gly717Arg	coding	Pathogenic
7	40001879	A	G	A40001879G	CDK13	NM_003718.5(CDK13):c.2201A>G:p.Lys734Arg	coding	Pathogenic
7	40001887	C	T	C40001887T	CDK13	NM_003718.5(CDK13):c.2209C>T:p.Arg737Cys	coding	Pathogenic
7	40001930	G	A	G40001930A	CDK13	NM_003718.5(CDK13):c.2252G>A:p.Arg751Gln	coding	Pathogenic
7	40045903	T	A	T40045903A	CDK13	NM_003718.5(CDK13):c.2421T>A:p.Val807=	coding	Benign
7	40046007	A	G	A40046007G	CDK13	NM_003718.5(CDK13):c.2525A>G:p.Asn842Ser	coding	Pathogenic/Likely_pathogenic
7	40078719	G	A	G40078719A	CDK13	NM_003718.5(CDK13):c.2898-1G>A	noncoding	Pathogenic
7	40078807	C	T	C40078807T	CDK13	NM_003718.5(CDK13):c.2985C>T:p.Cys995=	coding	Benign
7	40088264	C	A	C40088264A	CDK13	NM_003718.5(CDK13):c.3168C>A:p.Thr1056=	coding	Benign
7	40093057	G	A	G40093057A	CDK13	NM_003718.5(CDK13):c.3508G>A:p.Val1170Met	coding	Benign
7	40093194	A	G	A40093194G	CDK13	NM_003718.5(CDK13):c.3645A>G:p.Ser1215=	coding	Benign
7	40094491	T	A	T40094491A	CDK13	NM_003718.5(CDK13):c.4050T>A:p.Val1350=	coding	Benign
7	40133169	T	C	T40133169C	MPLKIP	NM_138701.4(MPLKIP):c.430A>G:p.Met144Val	coding	Pathogenic
7	40134228	C	T	C40134228T	MPLKIP	NM_138701.4(MPLKIP):c.339+1G>A	noncoding	Pathogenic
7	40134444	G	A	G40134444A	MPLKIP	NM_138701.4(MPLKIP):c.124C>T:p.Arg42Ter	coding	Pathogenic
7	40135074	C	A	C40135074A	SUGCT	NM_001193311.1(SUGCT):c.75C>A:p.Ser25=	coding	Benign
7	40188479	A	T	A40188479T	SUGCT	NM_001193311.1(SUGCT):c.248-16A>T	noncoding	Benign
7	40189528	A	T	A40189528T	SUGCT	NM_001193311.1(SUGCT):c.334-16A>T	noncoding	Benign
7	40237629	T	C	T40237629C	SUGCT	NM_001193311.1(SUGCT):c.506-6T>C	noncoding	Benign
7	40237664	C	T	C40237664T	SUGCT	NM_024728.2(SUGCT):c.424C>T:p.Arg142Ter	coding	Pathogenic
7	40274566	G	A	G40274566A	SUGCT	NM_001193311.1(SUGCT):c.651G>A:p.Leu217=	coding	Benign
7	40274644	A	G	A40274644G	SUGCT	NM_001193311.1(SUGCT):c.729A>G:p.Leu243=	coding	Benign
7	40316819	T	C	T40316819C	SUGCT	NM_001193313.2(SUGCT):c.780T>C:p.Arg260=	coding	Benign
7	40459094	C	A	C40459094A	SUGCT	NM_001193311.1(SUGCT):c.910-7C>A	noncoding	Benign
7	40860368	G	C	G40860368C	SUGCT	NM_001193311.1(SUGCT):c.1305G>C:p.Pro435=	coding	Benign
7	40860416	C	T	C40860416T	SUGCT	NM_001193313.2(SUGCT):c.1254C>T:p.Tyr418=	coding	Benign
7	41960938	C	A	C41960938A	GLI3	NM_000168.5(GLI3):c.*3392G>T	noncoding	Benign
7	41961068	T	C	T41961068C	GLI3	NM_000168.6(GLI3):c.*3262A>G	noncoding	Benign
7	41961092	G	A	G41961092A	GLI3	NM_000168.6(GLI3):c.*3238C>T	noncoding	Benign
7	41961326	C	T	C41961326T	GLI3	NM_000168.6(GLI3):c.*3004G>A	noncoding	Benign
7	41961573	G	A	G41961573A	GLI3	NM_000168.6(GLI3):c.*2757C>T	noncoding	Benign
7	41961615	C	T	C41961615T	GLI3	NM_000168.6(GLI3):c.*2715G>A	noncoding	Benign
7	41961973	A	T	A41961973T	GLI3	NM_000168.6(GLI3):c.*2357T>A	noncoding	Benign
7	41962213	T	C	T41962213C	GLI3	NM_000168.6(GLI3):c.*2117A>G	noncoding	Benign
7	41962280	A	C	A41962280C	GLI3	NM_000168.6(GLI3):c.*2050T>G	noncoding	Benign
7	41962311	G	A	G41962311A	GLI3	NM_000168.6(GLI3):c.*2019C>T	noncoding	Benign
7	41962639	G	A	G41962639A	GLI3	NM_000168.6(GLI3):c.*1691C>T	noncoding	Benign
7	41962707	T	C	T41962707C	GLI3	NM_000168.6(GLI3):c.*1623A>G	noncoding	Benign
7	41962866	T	C	T41962866C	GLI3	NM_000168.6(GLI3):c.*1464A>G	noncoding	Benign
7	41962919	C	T	C41962919T	GLI3	NM_000168.6(GLI3):c.*1411G>A	noncoding	Benign
7	41963033	C	T	C41963033T	GLI3	NM_000168.6(GLI3):c.*1297G>A	noncoding	Benign
7	41963034	A	G	A41963034G	GLI3	NM_000168.6(GLI3):c.*1296T>C	noncoding	Benign
7	41963243	T	A	T41963243A	GLI3	NM_000168.6(GLI3):c.*1087A>T	noncoding	Benign
7	41963250	C	T	C41963250T	GLI3	NM_000168.6(GLI3):c.*1080G>A	noncoding	Benign
7	41963387	C	T	C41963387T	GLI3	NM_000168.6(GLI3):c.*943G>A	noncoding	Benign
7	41963419	T	C	T41963419C	GLI3	NM_000168.6(GLI3):c.*911A>G	noncoding	Benign
7	41963483	G	T	G41963483T	GLI3	NM_000168.6(GLI3):c.*847C>A	noncoding	Benign
7	41963495	C	T	C41963495T	GLI3	NM_000168.6(GLI3):c.*835G>A	noncoding	Benign
7	41963589	T	C	T41963589C	GLI3	NM_000168.6(GLI3):c.*741A>G	noncoding	Benign
7	41963604	T	C	T41963604C	GLI3	NM_000168.6(GLI3):c.*726A>G	noncoding	Benign
7	41963675	T	C	T41963675C	GLI3	NM_000168.6(GLI3):c.*655A>G	noncoding	Benign
7	41963727	T	C	T41963727C	GLI3	NM_000168.6(GLI3):c.*603A>G	noncoding	Benign
7	41963902	G	A	G41963902A	GLI3	NM_000168.6(GLI3):c.*428C>T	noncoding	Benign
7	41963998	A	G	A41963998G	GLI3	NM_000168.6(GLI3):c.*332T>C	noncoding	Benign
7	41964081	T	A	T41964081A	GLI3	NM_000168.6(GLI3):c.*249A>T	noncoding	Benign
7	41964194	A	T	A41964194T	GLI3	NM_000168.6(GLI3):c.*136T>A	noncoding	Benign
7	41964300	C	A	C41964300A	GLI3	NM_000168.6(GLI3):c.*30G>T	noncoding	Benign
7	41964302	G	A	G41964302A	GLI3	NM_000168.6(GLI3):c.*28C>T	noncoding	Benign
7	41964319	T	C	T41964319C	GLI3	NM_000168.6(GLI3):c.*11A>G	noncoding	Benign/Likely_benign
7	41964437	G	A	G41964437A	GLI3	NM_000168.6(GLI3):c.4636C>T:p.Pro1546Ser	coding	Benign
7	41964464	G	A	G41964464A	GLI3	NM_000168.6(GLI3):c.4609C>T:p.Arg1537Cys	coding	Benign
7	41964549	G	A	G41964549A	GLI3	NM_000168.6(GLI3):c.4524C>T:p.Ala1508=	coding	Benign/Likely_benign
7	41964563	T	G	T41964563G	GLI3	NM_000168.6(GLI3):c.4510A>C:p.Ile1504Leu	coding	Benign
7	41964575	C	A	C41964575A	GLI3	NM_000168.6(GLI3):c.4498G>T:p.Glu1500Ter	coding	Pathogenic
7	41964717	C	T	C41964717T	GLI3	NM_000168.6(GLI3):c.4356G>A:p.Gln1452=	coding	Benign/Likely_benign
7	41965002	G	A	G41965002A	GLI3	NM_000168.6(GLI3):c.4071C>T:p.Tyr1357=	coding	Benign
7	41965053	G	A	G41965053A	GLI3	NM_000168.6(GLI3):c.4020C>T:p.Pro1340=	coding	Benign
7	41965066	C	T	C41965066T	GLI3	NM_000168.6(GLI3):c.4007G>A:p.Gly1336Glu	coding	Benign
7	41965068	C	T	C41965068T	GLI3	NM_000168.6(GLI3):c.4005G>A:p.Pro1335=	coding	Benign/Likely_benign
7	41965089	G	A	G41965089A	GLI3	NM_000168.6(GLI3):c.3984C>T:p.Leu1328=	coding	Benign/Likely_benign
7	41965179	C	T	C41965179T	GLI3	NM_000168.6(GLI3):c.3894G>A:p.Pro1298=	coding	Benign/Likely_benign
7	41965184	G	A	G41965184A	GLI3	NM_000168.6(GLI3):c.3889C>T:p.Leu1297=	coding	Benign
7	41965299	G	C	G41965299C	GLI3	NM_000168.6(GLI3):c.3774C>G:p.Leu1258=	coding	Benign
7	41965409	G	A	G41965409A	GLI3	NM_000168.6(GLI3):c.3664C>T:p.Pro1222Ser	coding	Benign/Likely_benign
7	41965442	C	T	C41965442T	GLI3	NM_000168.6(GLI3):c.3631G>A:p.Gly1211Arg	coding	Benign/Likely_benign
7	41965475	G	C	G41965475C	GLI3	NM_000168.6(GLI3):c.3598C>G:p.His1200Asp	coding	Benign/Likely_benign
7	41965592	G	A	G41965592A	GLI3	NM_000168.6(GLI3):c.3481C>T:p.Gln1161Ter	coding	Pathogenic
7	41965617	C	A	C41965617A	GLI3	NM_000168.6(GLI3):c.3456G>T:p.Glu1152Asp	coding	Pathogenic
7	41965634	C	A	C41965634A	GLI3	NM_000168.6(GLI3):c.3439G>T:p.Glu1147Ter	coding	Pathogenic
7	41965749	G	C	G41965749C	GLI3	NM_000168.6(GLI3):c.3324C>G:p.Tyr1108Ter	coding	Pathogenic
7	41965749	G	T	G41965749T	GLI3	NM_000168.6(GLI3):c.3324C>A:p.Tyr1108Ter	coding	Pathogenic
7	41965812	G	A	G41965812A	GLI3	NM_000168.6(GLI3):c.3261C>T:p.Asn1087=	coding	Benign
7	41965865	T	A	T41965865A	GLI3	NM_000168.6(GLI3):c.3208A>T:p.Thr1070Ser	coding	Benign/Likely_benign
7	41965924	G	A	G41965924A	GLI3	NM_000168.6(GLI3):c.3149C>T:p.Thr1050Met	coding	Benign
7	41965926	G	C	G41965926C	GLI3	NM_000168.6(GLI3):c.3147C>G:p.Tyr1049Ter	coding	Pathogenic
7	41965956	C	T	C41965956T	GLI3	NM_000168.6(GLI3):c.3117G>A:p.Ala1039=	coding	Benign
7	41965989	G	A	G41965989A	GLI3	NM_000168.6(GLI3):c.3084C>T:p.Ser1028=	coding	Benign
7	41965990	C	A	C41965990A	GLI3	NM_000168.6(GLI3):c.3083G>T:p.Ser1028Ile	coding	Benign
7	41966058	G	A	G41966058A	GLI3	NM_000168.6(GLI3):c.3015C>T:p.Ala1005=	coding	Benign
7	41966072	C	T	C41966072T	GLI3	NM_000168.6(GLI3):c.3001G>A:p.Gly1001Ser	coding	Benign/Likely_benign
7	41966080	G	A	G41966080A	GLI3	NM_000168.6(GLI3):c.2993C>T:p.Pro998Leu	coding	Benign
7	41966113	T	C	T41966113C	GLI3	NM_000168.6(GLI3):c.2960A>G:p.Tyr987Cys	coding	Benign
7	41966238	C	G	C41966238G	GLI3	NM_000168.6(GLI3):c.2835G>C:p.Leu945=	coding	Benign
7	41966247	C	G	C41966247G	GLI3	NM_000168.6(GLI3):c.2826G>C:p.Pro942=	coding	Benign
7	41966271	C	T	C41966271T	GLI3	NM_000168.6(GLI3):c.2802G>A:p.Ala934=	coding	Benign
7	41966273	C	G	C41966273G	GLI3	NM_000168.6(GLI3):c.2800G>C:p.Ala934Pro	coding	Pathogenic
7	41966274	G	C	G41966274C	GLI3	NM_000168.6(GLI3):c.2799C>G:p.Tyr933Ter	coding	Pathogenic
7	41966300	G	A	G41966300A	GLI3	NM_000168.6(GLI3):c.2773C>T:p.Gln925Ter	coding	Pathogenic
7	41966388	G	C	G41966388C	GLI3	NM_000168.6(GLI3):c.2685C>G:p.Tyr895Ter	coding	Pathogenic
7	41966426	C	A	C41966426A	GLI3	NM_000168.6(GLI3):c.2647G>T:p.Glu883Ter	coding	Pathogenic
7	41966438	C	T	C41966438T	GLI3	NM_000168.6(GLI3):c.2635G>A:p.Ala879Thr	coding	Benign/Likely_benign
7	41966506	G	T	G41966506T	GLI3	NM_000168.6(GLI3):c.2567C>A:p.Ser856Ter	coding	Pathogenic
7	41967473	C	T	C41967473T	GLI3	NM_000168.6(GLI3):c.2431+123G>A	noncoding	Benign
7	41967595	C	T	C41967595T	GLI3	NM_000168.6(GLI3):c.2431+1G>A	noncoding	Pathogenic
7	41967603	T	C	T41967603C	GLI3	NM_000168.6(GLI3):c.2424A>G:p.Ile808Met	coding	Benign/Likely_benign
7	41967653	G	A	G41967653A	GLI3	NM_000168.6(GLI3):c.2374C>T:p.Arg792Ter	coding	Pathogenic
7	41967654	C	T	C41967654T	GLI3	NM_000168.6(GLI3):c.2373G>A:p.Pro791=	coding	Benign/Likely_benign
7	41967721	G	A	G41967721A	GLI3	NM_000168.6(GLI3):c.2306C>T:p.Pro769Leu	coding	Benign
7	41967862	T	C	T41967862C	GLI3	NM_000168.6(GLI3):c.2165A>G:p.Asn722Ser	coding	Benign/Likely_benign
7	41967878	G	A	G41967878A	GLI3	NM_000168.6(GLI3):c.2149C>T:p.Gln717Ter	coding	Pathogenic
7	41967881	G	A	G41967881A	GLI3	NM_000168.6(GLI3):c.2146C>T:p.Gln716Ter	coding	Pathogenic
7	41967917	G	A	G41967917A	GLI3	NM_000168.6(GLI3):c.2110C>T:p.Gln704Ter	coding	Pathogenic
7	41972357	C	T	C41972357T	GLI3	NM_000168.6(GLI3):c.2083G>A:p.Val695Ile	coding	Benign
7	41972369	G	A	G41972369A	GLI3	NM_000168.6(GLI3):c.2071C>T:p.Gln691Ter	coding	Pathogenic
7	41972378	C	A	C41972378A	GLI3	NM_000168.6(GLI3):c.2062G>T:p.Glu688Ter	coding	Pathogenic
7	41972513	G	A	G41972513A	GLI3	NM_000168.6(GLI3):c.1927C>T:p.Arg643Ter	coding	Pathogenic
7	41972566	C	T	C41972566T	GLI3	NM_000168.6(GLI3):c.1874G>A:p.Arg625Gln	coding	Pathogenic
7	41972567	G	A	G41972567A	GLI3	NM_000168.6(GLI3):c.1873C>T:p.Arg625Trp	coding	Pathogenic
7	41972578	G	A	G41972578A	GLI3	NM_000168.6(GLI3):c.1862C>T:p.Pro621Leu	coding	Pathogenic
7	41977570	C	T	C41977570T	GLI3	NM_000168.6(GLI3):c.1800G>A:p.Thr600=	coding	Benign/Likely_benign
7	41977699	G	A	G41977699A	GLI3	NM_000168.6(GLI3):c.1671C>T:p.Tyr557=	coding	Benign/Likely_benign
7	41978373	G	T	G41978373T	GLI3	NM_000168.6(GLI3):c.1647+226C>A	noncoding	Benign
7	41978586	C	T	C41978586T	GLI3	NM_000168.6(GLI3):c.1647+13G>A	noncoding	Benign
7	41978619	C	A	C41978619A	GLI3	NM_000168.6(GLI3):c.1627G>T:p.Glu543Ter	coding	Pathogenic
7	41978737	G	A	G41978737A	GLI3	NM_000168.6(GLI3):c.1509C>T:p.Asn503=	coding	Benign
7	41978792	C	T	C41978792T	GLI3	NM_000168.6(GLI3):c.1498-44G>A	noncoding	Benign
7	42023212	G	A	G42023212A	GLI3	NM_000168.6(GLI3):c.1497+256C>T	noncoding	Benign
7	42023467	C	T	C42023467T	GLI3	NM_000168.6(GLI3):c.1497+1G>A	noncoding	Pathogenic
7	42023468	G	A	G42023468A	GLI3	NM_000168.6(GLI3):c.1497C>T:p.His499=	coding	Benign
7	42023479	G	A	G42023479A	GLI3	NM_000168.6(GLI3):c.1486C>T:p.Gln496Ter	coding	Pathogenic
7	42023513	C	T	C42023513T	GLI3	NM_000168.6(GLI3):c.1452G>A:p.Trp484Ter	coding	Pathogenic
7	42023514	C	T	C42023514T	GLI3	NM_000168.6(GLI3):c.1451G>A:p.Trp484Ter	coding	Pathogenic
7	42023572	C	G	C42023572G	GLI3	NM_000168.6(GLI3):c.1393G>C:p.Gly465Arg	coding	Benign/Likely_benign
7	42023579	C	T	C42023579T	GLI3	NM_000168.6(GLI3):c.1386G>A:p.Lys462=	coding	Benign
7	42023600	G	A	G42023600A	GLI3	NM_000168.6(GLI3):c.1365C>T:p.Pro455=	coding	Benign
7	42023625	G	C	G42023625C	GLI3	NM_000168.6(GLI3):c.1357-17C>G	noncoding	Benign/Likely_benign
7	42025200	G	T	G42025200T	GLI3	NM_000168.6(GLI3):c.1356+64C>A	noncoding	Benign
7	42025253	C	G	C42025253G	GLI3	NM_000168.6(GLI3):c.1356+11G>C	noncoding	Benign
7	42025254	G	T	G42025254T	GLI3	NM_000168.6(GLI3):c.1356+10C>A	noncoding	Benign
7	42025417	T	G	T42025417G	GLI3	NM_000168.6(GLI3):c.1243-40A>C	noncoding	Benign/Likely_benign
7	42026234	C	T	C42026234T	GLI3	NM_000168.6(GLI3):c.1207G>A:p.Val403Ile	coding	Benign/Likely_benign
7	42026345	G	A	G42026345A	GLI3	NM_000168.6(GLI3):c.1096C>T:p.Arg366Ter	coding	Pathogenic
7	42026419	G	A	G42026419A	GLI3	NM_000168.6(GLI3):c.1029-7C>T	noncoding	Benign
7	42026423	G	A	G42026423A	GLI3	NM_000168.6(GLI3):c.1029-11C>T	noncoding	Benign
7	42039757	C	A	C42039757A	GLI3	NM_000168.6(GLI3):c.1028+281G>T	noncoding	Benign
7	42040023	C	T	C42040023T	GLI3	NM_000168.6(GLI3):c.1028+15G>A	noncoding	Benign
7	42040064	A	T	A42040064T	GLI3	NM_000168.6(GLI3):c.1002T>A:p.Tyr334Ter	coding	Pathogenic
7	42040131	G	A	G42040131A	GLI3	NM_000168.6(GLI3):c.935C>T:p.Thr312Met	coding	Benign
7	42040166	G	A	G42040166A	GLI3	NM_000168.6(GLI3):c.900C>T:p.Ser300=	coding	Benign
7	42040198	G	A	G42040198A	GLI3	NM_000168.6(GLI3):c.868C>T:p.Arg290Ter	coding	Pathogenic
7	42040226	G	C	G42040226C	GLI3	NM_000168.6(GLI3):c.840C>G:p.Ser280=	coding	Benign/Likely_benign
7	42040420	G	A	G42040420A	GLI3	NM_000168.6(GLI3):c.827-181C>T	noncoding	Benign
7	42045129	A	G	A42045129G	GLI3	NM_000168.6(GLI3):c.826+255T>C	noncoding	Benign
7	42045385	A	G	A42045385G	GLI3	NM_000168.6(GLI3):c.825T>C:p.Asp275=	coding	Benign/Likely_benign
7	42045427	G	A	G42045427A	GLI3	NM_000168.6(GLI3):c.783C>T:p.Ala261=	coding	Benign
7	42045457	A	C	A42045457C	GLI3	NM_000168.6(GLI3):c.753T>G:p.Tyr251Ter	coding	Pathogenic
7	42048623	T	C	T42048623C	GLI3	NM_000168.6(GLI3):c.547A>G:p.Thr183Ala	coding	Benign
7	42048633	G	A	G42048633A	GLI3	NM_000168.6(GLI3):c.537C>T:p.His179=	coding	Benign
7	42048669	C	T	C42048669T	GLI3	NM_000168.6(GLI3):c.501G>A:p.Thr167=	coding	Benign/Likely_benign
7	42048700	G	A	G42048700A	GLI3	NM_000168.6(GLI3):c.474-4C>T	noncoding	Benign/Likely_benign
7	42076781	G	A	G42076781A	GLI3	NM_000168.6(GLI3):c.444C>T:p.Tyr148=	coding	Benign/Likely_benign
7	42076864	A	C	A42076864C	GLI3	NM_000168.6(GLI3):c.368-7T>G	noncoding	Benign
7	42076876	C	T	C42076876T	GLI3	NM_000168.6(GLI3):c.368-19G>A	noncoding	Benign
7	42077105	G	A	G42077105A	GLI3	NM_000168.6(GLI3):c.368-248C>T	noncoding	Benign
7	42148230	G	A	G42148230A	GLI3	NM_000168.6(GLI3):c.363C>T:p.His121=	coding	Benign/Likely_benign
7	42148252	C	T	C42148252T	GLI3	NM_000168.6(GLI3):c.341G>A:p.Arg114Lys	coding	Benign/Likely_benign
7	42148305	G	A	G42148305A	GLI3	NM_000168.6(GLI3):c.288C>T:p.His96=	coding	Benign
7	42148313	G	A	G42148313A	GLI3	NM_000168.6(GLI3):c.280C>T:p.Leu94=	coding	Benign/Likely_benign
7	42148425	G	A	G42148425A	GLI3	NM_000168.6(GLI3):c.168C>T:p.Asn56=	coding	Benign
7	42148731	T	C	T42148731C	GLI3	NM_000168.6(GLI3):c.125-263A>G	noncoding	Benign
7	42223155	G	A	G42223155A	GLI3	NM_000168.6(GLI3):c.99C>T:p.Ala33=	coding	Benign/Likely_benign
7	42223163	C	A	C42223163A	GLI3	NM_000168.6(GLI3):c.91G>T:p.Glu31Ter	coding	Pathogenic
7	42223306	C	G	C42223306G	GLI3	NM_000168.6(GLI3):c.-42-11G>C	noncoding	Benign
7	42236996	C	T	C42236996T	GLI3	NM_000168.6(GLI3):c.-68G>A	noncoding	Benign
7	42237022	G	C	G42237022C	GLI3	NM_000168.6(GLI3):c.-94C>G	noncoding	Benign
7	42923394	T	C	T42923394C	PSMA2	NM_002787.5(PSMA2):c.387A>G:p.Pro129=	coding	Benign
7	43445224	C	T	C43445224T	HECW1	NM_015052.5(HECW1):c.2052C>T:p.Ser684=	coding	Benign
7	43554586	G	A	G43554586A	HECW1	NM_015052.5(HECW1):c.4511-6G>A	noncoding	Benign
7	43554596	C	T	C43554596T	HECW1	NM_015052.5(HECW1):c.4515C>T:p.Tyr1505=	coding	Benign
7	43608339	G	A	G43608339A	STK17A	NM_004760.3(STK17A):c.503G>A:p.Arg168Gln	coding	Benign
7	43623585	T	C	T43623585C	STK17A	NM_004760.3(STK17A):c.705T>C:p.Leu235=	coding	Benign
7	43787943	C	T	C43787943T	BLVRA	NM_000712.4(BLVRA):c.52C>T:p.Arg18Ter	coding	Pathogenic
7	43788022	C	A	C43788022A	BLVRA	NM_001253823.1(BLVRA):c.131C>A:p.Ser44Ter	coding	Pathogenic
7	43791281	A	G	A43791281G	BLVRA	NM_000712.4(BLVRA):c.167A>G:p.Gln56Arg	coding	Benign
7	43791360	C	T	C43791360T	BLVRA	NM_000712.4(BLVRA):c.246C>T:p.Asp82=	coding	Benign
7	43876814	G	A	G43876814A	URGCP	NM_001077663.2(URGCP):c.2649C>T:p.His883=	coding	Benign
7	43877183	G	A	G43877183A	URGCP	NM_001077663.2(URGCP):c.2280C>T:p.Ala760=	coding	Benign
7	43877660	G	A	G43877660A	URGCP	NM_001077663.2(URGCP):c.1803C>T:p.Asp601=	coding	Benign
7	43877735	C	T	C43877735T	URGCP	NM_001077663.2(URGCP):c.1728G>A:p.Arg576=	coding	Benign
7	43877744	G	T	G43877744T	URGCP	NM_001077663.2(URGCP):c.1719C>A:p.Gly573=	coding	Benign
7	43877866	G	A	G43877866A	URGCP	NM_001077663.2(URGCP):c.1597C>T:p.Leu533=	coding	Benign
7	43878005	C	T	C43878005T	URGCP	NM_001077663.2(URGCP):c.1458G>A:p.Ser486=	coding	Benign
7	43878679	C	T	C43878679T	URGCP	NM_001077663.2(URGCP):c.784G>A:p.Ala262Thr	coding	Benign
7	44065155	C	T	C44065155T	PGAM2	NM_000290.4(PGAM2):c.375G>A:p.Pro125=	coding	Benign/Likely_benign
7	44065164	C	T	C44065164T	PGAM2	NM_000290.4(PGAM2):c.366G>A:p.Pro122=	coding	Benign/Likely_benign
7	44065189	A	C	A44065189C	PGAM2	NM_000290.4(PGAM2):c.341T>G:p.Ile114Ser	coding	Benign
7	44065206	C	T	C44065206T	PGAM2	NM_000290.4(PGAM2):c.324G>A:p.Gly108=	coding	Benign
7	44065264	T	G	T44065264G	PGAM2	NM_000290.4(PGAM2):c.266A>C:p.Glu89Ala	coding	Pathogenic
7	44065297	C	T	C44065297T	PGAM2	NM_000290.4(PGAM2):c.233G>A:p.Trp78Ter	coding	Pathogenic
7	44065314	G	A	G44065314A	PGAM2	NM_000290.4(PGAM2):c.216C>T:p.Asp72=	coding	Benign
7	44065579	A	C	A44065579C	PGAM2	NM_001014436.3(DBNL):c.*4663A>C	noncoding	Benign
7	44079739	C	T	C44079739T	POLM	NM_013284.4(POLM):c.474G>A:p.Glu158=	coding	Benign
7	44106852	C	G	C44106852G	AEBP1	NM_001129.5(AEBP1):c.560C>G:p.Pro187Arg	coding	Benign
7	44110005	G	A	G44110005A	AEBP1	NM_001129.5(AEBP1):c.1151-10G>A	noncoding	Benign
7	44110276	A	T	A44110276T	AEBP1	NM_001129.5(AEBP1):c.1330A>T:p.Ile444Leu	coding	Benign
7	44110905	C	G	C44110905G	AEBP1	NM_001129.5(AEBP1):c.1486-8C>G	coding	Benign
7	44111058	G	A	G44111058A	AEBP1	NM_001129.5(AEBP1):c.1630+1G>A	coding	Pathogenic
7	44114249	T	C	T44114249C	AEBP1	NM_001129.5(AEBP1):c.3465T>C:p.Phe1155=	coding	Benign
7	44144289	C	T	C44144289T	GCK	NM_000162.5(GCK):c.*847G>A	noncoding	Benign/Likely_benign
7	44144339	G	A	G44144339A	GCK	NM_000162.5(GCK):c.*797C>T	noncoding	Benign
7	44144401	G	T	G44144401T	GCK	NM_000162.5(GCK):c.*735C>A	noncoding	Benign/Likely_benign
7	44144626	G	A	G44144626A	GCK	NM_000162.5(GCK):c.*510C>T	noncoding	Benign/Likely_benign
7	44144659	G	A	G44144659A	GCK	NM_000162.5(GCK):c.*477C>T	noncoding	Benign
7	44144780	C	T	C44144780T	GCK	NM_000162.5(GCK):c.*356G>A	noncoding	Benign/Likely_benign
7	44144804	C	T	C44144804T	GCK	NM_000162.5(GCK):c.*332G>A	noncoding	Benign
7	44144839	A	C	A44144839C	GCK	NM_000162.5(GCK):c.*297T>G	noncoding	Benign/Likely_benign
7	44145044	G	T	G44145044T	GCK	NM_000162.5(GCK):c.*92C>A	noncoding	Benign/Likely_benign
7	44145167	G	A	G44145167A	GCK	NM_000162.5(GCK):c.1367C>T:p.Ala456Val	coding	Pathogenic
7	44145171	C	T	C44145171T	GCK	NM_000162.5(GCK):c.1363G>A:p.Val455Met	coding	Pathogenic
7	44145207	C	A	C44145207A	GCK	NM_000162.5(GCK):c.1327G>T:p.Glu443Ter	coding	Pathogenic
7	44145448	C	T	C44145448T	GCK	NM_000162.5(GCK):c.1253+49G>A	noncoding	Benign
7	44145489	G	A	G44145489A	GCK	NM_000162.5(GCK):c.1253+8C>T	noncoding	Benign
7	44145495	A	T	A44145495T	GCK	NM_000162.5(GCK):c.1253+2T>A	noncoding	Pathogenic
7	44145585	C	G	C44145585G	GCK	NM_000162.5(GCK):c.1165G>C:p.Val389Leu	coding	Pathogenic
7	44145617	G	A	G44145617A	GCK	NM_000162.5(GCK):c.1133C>T:p.Ala378Val	coding	Pathogenic
7	44145618	C	T	C44145618T	GCK	NM_000162.5(GCK):c.1132G>A:p.Ala378Thr	coding	Pathogenic
7	44145620	C	A	C44145620A	GCK	NM_000162.5(GCK):c.1130G>T:p.Arg377Leu	coding	Pathogenic
7	44145637	G	T	G44145637T	GCK	NM_000162.5(GCK):c.1113C>A:p.Cys371Ter	coding	Pathogenic
7	44145731	C	T	C44145731T	GCK	NM_000162.5(GCK):c.1020-1G>A	coding	Pathogenic
7	44146057	G	T	G44146057T	GCK	NM_000162.5(GCK):c.1020-327C>A	noncoding	Benign
7	44146445	C	T	C44146445T	GCK	NM_000162.5(GCK):c.1019+18G>A	noncoding	Benign/Likely_benign
7	44146461	A	C	A44146461C	GCK	NM_000162.5(GCK):c.1019+2T>G	noncoding	Pathogenic
7	44146466	T	C	T44146466C	GCK	NM_000162.5(GCK):c.1016A>G:p.Glu339Gly	coding	Pathogenic
7	44146467	C	T	C44146467T	GCK	NM_000162.5(GCK):c.1015G>A:p.Glu339Lys	coding	Pathogenic
7	44146528	C	G	C44146528G	GCK	NM_000162.5(GCK):c.954G>C:p.Gly318=	coding	Benign/Likely_benign
7	44146530	C	T	C44146530T	GCK	NM_000162.5(GCK):c.952G>A:p.Gly318Arg	coding	Pathogenic
7	44146538	A	T	A44146538T	GCK	NM_000162.5(GCK):c.944T>A:p.Leu315His	coding	Pathogenic
7	44146541	A	G	A44146541G	GCK	NM_000162.5(GCK):c.941T>C:p.Leu314Pro	coding	Pathogenic
7	44146587	C	G	C44146587G	GCK	NM_000162.5(GCK):c.895G>C:p.Gly299Arg	coding	Pathogenic
7	44146611	T	A	T44146611A	GCK	NM_000162.5(GCK):c.871A>T:p.Lys291Ter	coding	Pathogenic
7	44146619	C	T	C44146619T	GCK	NM_000162.5(GCK):c.864-1G>A	coding	Pathogenic
7	44147649	C	T	C44147649T	GCK	NM_000162.5(GCK):c.863+1G>A	noncoding	Pathogenic
7	44147678	C	A	C44147678A	GCK	NM_000162.5(GCK):c.835G>T:p.Glu279Ter	coding	Pathogenic
7	44147679	G	A	G44147679A	GCK	NM_000162.5(GCK):c.834C>T:p.Asp278=	coding	Benign
7	44147720	C	A	C44147720A	GCK	NM_000162.5(GCK):c.793G>T:p.Glu265Ter	coding	Pathogenic
7	44147720	C	T	C44147720T	GCK	NM_000162.5(GCK):c.793G>A:p.Glu265Lys	coding	Pathogenic
7	44147723	C	T	C44147723T	GCK	NM_000162.5(GCK):c.790G>A:p.Gly264Ser	coding	Pathogenic
7	44147732	C	G	C44147732G	GCK	NM_000162.5(GCK):c.781G>C:p.Gly261Arg	coding	Pathogenic
7	44147732	C	T	C44147732T	GCK	NM_000162.5(GCK):c.781G>A:p.Gly261Arg	coding	Pathogenic
7	44147738	C	T	C44147738T	GCK	NM_000162.5(GCK):c.775G>A:p.Ala259Thr	coding	Pathogenic
7	44147741	C	T	C44147741T	GCK	NM_000162.5(GCK):c.772G>A:p.Gly258Ser	coding	Pathogenic
7	44147743	C	T	C44147743T	GCK	NM_000162.5(GCK):c.770G>A:p.Trp257Ter	coding	Pathogenic
7	44147744	A	G	A44147744G	GCK	NM_000162.5(GCK):c.769T>C:p.Trp257Arg	coding	Pathogenic
7	44147747	C	T	C44147747T	GCK	NM_000162.5(GCK):c.766G>A:p.Glu256Lys	coding	Pathogenic
7	44147807	C	T	C44147807T	GCK	NM_000162.5(GCK):c.706G>A:p.Glu236Lys	coding	Pathogenic
7	44147830	G	A	G44147830A	GCK	NM_000162.5(GCK):c.683C>T:p.Thr228Met	coding	Pathogenic
7	44147834	C	T	C44147834T	GCK	NM_000162.5(GCK):c.680-1G>A	coding	Pathogenic
7	44147835	T	C	T44147835C	GCK	NM_000162.5(GCK):c.680-2A>G	noncoding	Pathogenic
7	44149722	A	G	A44149722G	GCK	NM_000162.5(GCK):c.679+38T>C	noncoding	Benign
7	44149763	C	T	C44149763T	GCK	NM_000162.5(GCK):c.676G>A:p.Val226Met	coding	Pathogenic/Likely_pathogenic
7	44149764	G	C	G44149764C	GCK	NM_000162.5(GCK):c.675C>G:p.Ile225Met	coding	Pathogenic
7	44149772	C	T	C44149772T	GCK	NM_000162.5(GCK):c.667G>A:p.Gly223Ser	coding	Pathogenic
7	44149778	C	T	C44149778T	GCK	NM_000162.5(GCK):c.661G>A:p.Glu221Lys	coding	Pathogenic/Likely_pathogenic
7	44149779	G	A	G44149779A	GCK	NM_000162.5(GCK):c.660C>T:p.Cys220=	coding	Benign/Likely_benign
7	44149794	G	A	G44149794A	GCK	NM_000162.5(GCK):c.645C>T:p.Tyr215=	coding	Benign/Likely_benign
7	44149794	G	C	G44149794C	GCK	NM_000162.5(GCK):c.645C>G:p.Tyr215Ter	coding	Pathogenic
7	44149794	G	T	G44149794T	GCK	NM_000162.5(GCK):c.645C>A:p.Tyr215Ter	coding	Pathogenic/Likely_pathogenic
7	44149798	T	C	T44149798C	GCK	NM_000162.5(GCK):c.641A>G:p.Tyr214Cys	coding	Pathogenic
7	44149810	A	T	A44149810T	GCK	NM_000162.5(GCK):c.629T>A:p.Met210Lys	coding	Pathogenic
7	44149813	G	A	G44149813A	GCK	NM_000162.5(GCK):c.626C>T:p.Thr209Met	coding	Pathogenic
7	44149821	C	T	C44149821T	GCK	NM_000162.5(GCK):c.618G>A:p.Thr206=	coding	Benign/Likely_benign
7	44149823	T	G	T44149823G	GCK	NM_000162.5(GCK):c.616A>C:p.Thr206Pro	coding	Pathogenic/Likely_pathogenic
7	44149831	A	G	A44149831G	GCK	NM_000162.5(GCK):c.608T>C:p.Val203Ala	coding	Pathogenic
7	44149860	C	T	C44149860T	GCK	NM_000162.5(GCK):c.580-1G>A	coding	Pathogenic
7	44149977	G	A	G44149977A	GCK	NM_000162.5(GCK):c.571C>T:p.Arg191Trp	coding	Pathogenic
7	44149986	C	T	C44149986T	GCK	NM_000162.5(GCK):c.562G>A:p.Ala188Thr	coding	Pathogenic
7	44149992	G	A	G44149992A	GCK	NM_000162.5(GCK):c.556C>T:p.Arg186Ter	coding	Pathogenic
7	44150004	C	T	C44150004T	GCK	NM_000162.5(GCK):c.544G>A:p.Val182Met	coding	Pathogenic
7	44150015	C	T	C44150015T	GCK	NM_000162.5(GCK):c.533G>A:p.Gly178Glu	coding	Pathogenic
7	44150869	T	G	T44150869G	GCK	NM_000162.5(GCK):c.483+87A>C	noncoding	Benign
7	44150942	T	C	T44150942C	GCK	NM_000162.5(GCK):c.483+14A>G	noncoding	Benign/Likely_benign
7	44150954	A	G	A44150954G	GCK	NM_000162.5(GCK):c.483+2T>C	noncoding	Pathogenic
7	44150990	A	G	A44150990G	GCK	NM_000162.5(GCK):c.449T>C:p.Phe150Ser	coding	Pathogenic/Likely_pathogenic
7	44151048	A	G	A44151048G	GCK	NM_000162.5(GCK):c.391T>C:p.Ser131Pro	coding	Pathogenic
7	44151052	G	T	G44151052T	GCK	NM_000162.5(GCK):c.387C>A:p.Cys129Ter	coding	Pathogenic
7	44151076	C	T	C44151076T	GCK	NM_000162.5(GCK):c.364-1G>A	coding	Pathogenic/Likely_pathogenic
7	44151093	T	C	T44151093C	GCK	NM_000162.5(GCK):c.364-18A>G	noncoding	Benign/Likely_benign
7	44152295	G	A	G44152295A	GCK	NM_000162.5(GCK):c.339C>T:p.Asp113=	coding	Benign/Likely_benign
7	44152301	G	A	G44152301A	GCK	NM_000162.5(GCK):c.333C>T:p.Pro111=	coding	Benign/Likely_benign
7	44152327	T	A	T44152327A	GCK	NM_000162.5(GCK):c.307A>T:p.Thr103Ser	coding	Pathogenic
7	44152339	A	G	A44152339G	GCK	NM_000162.5(GCK):c.295T>C:p.Trp99Arg	coding	Pathogenic
7	44152420	C	G	C44152420G	GCK	NM_000162.5(GCK):c.214G>C:p.Gly72Arg	coding	Pathogenic
7	44152420	C	T	C44152420T	GCK	NM_000162.5(GCK):c.214G>A:p.Gly72Arg	coding	Pathogenic
7	44152433	C	T	C44152433T	GCK	NM_000162.5(GCK):c.209-8G>A	noncoding	Benign/Likely_benign
7	44152661	C	A	C44152661A	GCK	NM_000162.5(GCK):c.209-236G>T	noncoding	Benign
7	44153300	C	T	C44153300T	GCK	NM_000162.5(GCK):c.208+1G>A	noncoding	Pathogenic
7	44153325	C	T	C44153325T	GCK	NM_000162.5(GCK):c.184G>A:p.Val62Met	coding	Pathogenic
7	44153326	G	T	G44153326T	GCK	NM_000162.5(GCK):c.183C>A:p.Tyr61Ter	coding	Pathogenic
7	44153334	G	A	G44153334A	GCK	NM_000162.5(GCK):c.175C>T:p.Pro59Ser	coding	Pathogenic/Likely_pathogenic
7	44153338	C	A	C44153338A	GCK	NM_000162.5(GCK):c.171G>T:p.Met57Ile	coding	Pathogenic
7	44153361	G	A	G44153361A	GCK	NM_000162.5(GCK):c.148C>T:p.His50Tyr	coding	Pathogenic
7	44153379	C	T	C44153379T	GCK	NM_000162.5(GCK):c.130G>A:p.Gly44Ser	coding	Pathogenic
7	44153382	G	A	G44153382A	GCK	NM_000162.5(GCK):c.127C>T:p.Arg43Cys	coding	Pathogenic
7	44153391	C	T	C44153391T	GCK	NM_000162.5(GCK):c.118G>A:p.Glu40Lys	coding	Pathogenic
7	44153397	G	A	G44153397A	GCK	NM_000162.5(GCK):c.112C>T:p.Gln38Ter	coding	Pathogenic
7	44153403	G	A	G44153403A	GCK	NM_000162.5(GCK):c.106C>T:p.Arg36Trp	coding	Pathogenic/Likely_pathogenic
7	44153411	A	G	A44153411G	GCK	NM_000162.5(GCK):c.98T>C:p.Val33Ala	coding	Pathogenic
7	44153433	G	A	G44153433A	GCK	NM_000162.5(GCK):c.76C>T:p.Gln26Ter	coding	Pathogenic/Likely_pathogenic
7	44153439	G	A	G44153439A	GCK	NM_000162.5(GCK):c.70C>T:p.Gln24Ter	coding	Pathogenic
7	44153465	T	C	T44153465C	GCK	NM_000162.5(GCK):c.46-2A>G	noncoding	Pathogenic
7	44157984	G	T	G44157984T	GCK	NM_000162.5(GCK):c.46-4521C>A	noncoding	Benign
7	44159543	C	T	C44159543T	GCK	NM_000162.5(GCK):c.46-6080G>A	noncoding	Benign
7	44188908	C	A	C44188908A	GCK	NM_000162.5(GCK):c.45+1G>T	noncoding	Pathogenic
7	44188923	C	T	C44188923T	GCK	NM_000162.5(GCK):c.31G>A:p.Ala11Thr	coding	Benign/Likely_benign
7	44188945	G	A	G44188945A	GCK	NM_000162.5(GCK):c.9C>T:p.Asp3=	coding	Benign/Likely_benign
7	44189037	G	C	G44189037C	GCK	NM_000162.5(GCK):c.-84C>G	noncoding	Benign
7	44189168	T	C	T44189168C	GCK	NM_000162.5(GCK):c.-215A>G	noncoding	Benign/Likely_benign
7	44189170	G	C	G44189170C	GCK	NM_000162.5(GCK):c.-217C>G	noncoding	Benign
7	44189220	C	A	C44189220A	GCK	NM_000162.5(GCK):c.-267G>T	noncoding	Benign
7	44220086	G	A	G44220086A	CAMK2B	NM_001220.5(CAMK2B):c.1977C>T:p.Gly659=	coding	Benign
7	44241699	C	T	C44241699T	CAMK2B	NM_001220.5(CAMK2B):c.903+1G>A	noncoding	Pathogenic
7	44241751	T	A	T44241751A	CAMK2B	NM_001220.5(CAMK2B):c.852A>T:p.Arg284Ser	coding	Pathogenic
7	44241784	C	T	C44241784T	CAMK2B	NM_001220.5(CAMK2B):c.820-1G>A	coding	Pathogenic
7	44242328	C	T	C44242328T	CAMK2B	NM_001220.5(CAMK2B):c.709G>A:p.Glu237Lys	coding	Pathogenic
7	44242618	G	A	G44242618A	CAMK2B	NM_001220.5(CAMK2B):c.638C>T:p.Pro213Leu	coding	Pathogenic
7	44243526	G	A	G44243526A	CAMK2B	NM_001220.5(CAMK2B):c.416C>T:p.Pro139Leu	coding	Pathogenic
7	44254555	C	T	C44254555T	CAMK2B	NM_001220.5(CAMK2B):c.328G>A:p.Glu110Lys	coding	Pathogenic
7	44284206	G	A	G44284206A	CAMK2B	NM_001220.5(CAMK2B):c.85C>T:p.Arg29Ter	coding	Pathogenic
7	44513639	A	G	A44513639G	NPC1L1	NM_001101648.2(NPC1L1):c.3807T>C:p.Val1269=	coding	Benign
7	44515807	G	A	G44515807A	NPC1L1	NM_001101648.2(NPC1L1):c.3792C>T:p.Tyr1264=	coding	Benign
7	44515974	T	G	T44515974G	NPC1L1	NM_001101648.2(NPC1L1):c.3634-9A>C	noncoding	Benign
7	44517235	C	G	C44517235G	NPC1L1	NM_001101648.2(NPC1L1):c.3259G>C:p.Asp1087His	coding	Benign
7	44517294	C	T	C44517294T	NPC1L1	NM_001101648.2(NPC1L1):c.3200G>A:p.Arg1067Gln	coding	Benign
7	44520983	C	T	C44520983T	NPC1L1	NM_001101648.2(NPC1L1):c.3080+9G>A	noncoding	Benign
7	44521745	G	A	G44521745A	NPC1L1	NM_001101648.2(NPC1L1):c.2920C>T:p.Pro974Ser	coding	Benign
7	44522207	G	A	G44522207A	NPC1L1	NM_001101648.2(NPC1L1):c.2673C>T:p.Asn891=	coding	Benign
7	44532122	A	G	A44532122G	NPC1L1	NM_001101648.2(NPC1L1):c.2505T>C:p.Ala835=	coding	Benign
7	44532164	A	C	A44532164C	NPC1L1	NM_001101648.2(NPC1L1):c.2463T>G:p.Pro821=	coding	Benign
7	44539580	C	A	C44539580A	NPC1L1	NM_001101648.2(NPC1L1):c.817G>T:p.Asp273Tyr	coding	Benign
7	44539581	G	C	G44539581C	NPC1L1	NM_001101648.2(NPC1L1):c.816C>G:p.Leu272=	coding	Benign
7	44569186	G	A	G44569186A	DDX56	NM_019082.3(DDX56):c.1237C>T:p.Leu413=	coding	Benign
7	44571636	T	C	T44571636C	DDX56	NM_019082.3(DDX56):c.746A>G:p.Tyr249Cys	coding	Benign
7	44573018	G	A	G44573018A	DDX56	NM_019082.3(DDX56):c.255C>T:p.Gly85=	coding	Benign
7	44624382	A	C	A44624382C	OGDH	NM_002541.4(OGDH):c.39A>C:p.Pro13=	coding	Benign
7	44624507	C	T	C44624507T	OGDH	NM_002541.4(OGDH):c.164C>T:p.Ser55Leu	coding	Benign
7	44624574	C	T	C44624574T	OGDH	NM_002541.4(OGDH):c.222+9C>T	noncoding	Benign
7	44645449	A	G	A44645449G	OGDH	NM_002541.4(OGDH):c.345A>G:p.Glu115=	coding	Benign
7	44645461	C	T	C44645461T	OGDH	NM_002541.4(OGDH):c.357C>T:p.Asn119=	coding	Benign
7	44645500	G	A	G44645500A	OGDH	NM_002541.4(OGDH):c.396G>A:p.Ser132=	coding	Benign
7	44675171	G	A	G44675171A	OGDH	NM_002541.4(OGDH):c.936-7G>A	noncoding	Benign
7	44676131	C	T	C44676131T	OGDH	NM_002541.4(OGDH):c.1188C>T:p.Gly396=	coding	Benign
7	44693911	C	T	C44693911T	OGDH	NM_002541.4(OGDH):c.1422C>T:p.His474=	coding	Benign
7	44696487	G	A	G44696487A	OGDH	NM_002541.4(OGDH):c.1830G>A:p.Thr610=	coding	Benign
7	44696514	T	C	T44696514C	OGDH	NM_002541.4(OGDH):c.1857T>C:p.Asn619=	coding	Benign
7	44696981	G	A	G44696981A	OGDH	NM_002541.4(OGDH):c.1968G>A:p.Ala656=	coding	Benign/Likely_benign
7	44707376	A	G	A44707376G	OGDH	NM_002541.4(OGDH):c.2784A>G:p.Thr928=	coding	Benign
7	44707900	G	A	G44707900A	OGDH	NM_002541.4(OGDH):c.2973G>A:p.Ala991=	coding	Benign
7	44707915	C	T	C44707915T	OGDH	NM_002541.4(OGDH):c.2988C>T:p.Thr996=	coding	Benign
7	44707969	C	T	C44707969T	OGDH	NM_002541.4(OGDH):c.3042C>T:p.Phe1014=	coding	Benign
7	44707978	C	T	C44707978T	OGDH	NM_002541.4(OGDH):c.3051C>T:p.Asp1017=	coding	Benign
7	44707979	G	A	G44707979A	OGDH	NM_002541.4(OGDH):c.3052G>A:p.Val1018Ile	coding	Benign
7	44707990	C	T	C44707990T	OGDH	NM_002541.4(OGDH):c.3063C>T:p.Asn1021=	coding	Benign
7	44764463	G	C	G44764463C	ZMIZ2	NM_031449.4(ZMIZ2):c.1905G>C:p.Gly635=	coding	Benign
7	45000334	A	G	A45000334G	CCM2	NM_031443.3(CCM2):c.1A>G:p.Met1Val	coding	Pathogenic
7	45000363	G	A	G45000363A	CCM2	NM_031443.3(CCM2):c.30G>A:p.Lys10=	coding	Pathogenic
7	45000364	G	A	G45000364A	CCM2	NM_031443.3(CCM2):c.30+1G>A	coding	Pathogenic/Likely_pathogenic
7	45000380	G	T	G45000380T	CCM2	NM_031443.3(CCM2):c.30+17G>T	noncoding	Benign
7	45027668	G	C	G45027668C	CCM2	NM_001029835.2(CCM2):c.-37G>C	coding	Benign
7	45038277	C	T	C45038277T	CCM2	NM_001029835.2(CCM2):c.118C>T:p.Arg40Ter	coding	Pathogenic
7	45038379	G	A	G45038379A	CCM2	NM_001029835.2(CCM2):c.220G>A:p.Val74Ile	coding	Benign
7	45038391	A	T	A45038391T	CCM2	NM_001029835.2(CCM2):c.232A>T:p.Arg78Ter	coding	Pathogenic/Likely_pathogenic
7	45063882	A	G	A45063882G	CCM2	NM_001029835.2(CCM2):c.268-36A>G	noncoding	Benign
7	45063927	C	T	C45063927T	CCM2	NM_001029835.2(CCM2):c.277C>T:p.Gln93Ter	coding	Pathogenic
7	45063935	G	A	G45063935A	CCM2	NM_031443.4(CCM2):c.222G>A:p.Thr74=	coding	Benign
7	45063959	C	T	C45063959T	CCM2	NM_001029835.2(CCM2):c.309C>T:p.Pro103=	coding	Benign/Likely_benign
7	45064002	G	A	G45064002A	CCM2	NM_001029835.2(CCM2):c.351+1G>A	coding	Pathogenic
7	45064462	G	T	G45064462T	CCM2	NM_001029835.2(CCM2):c.352-1G>T	noncoding	Pathogenic
7	45064493	C	T	C45064493T	CCM2	NM_001029835.2(CCM2):c.382C>T:p.Gln128Ter	coding	Pathogenic
7	45064513	C	T	C45064513T	CCM2	NM_031443.4(CCM2):c.339C>T:p.Leu113=	coding	Benign
7	45064525	G	A	G45064525A	CCM2	NM_001029835.2(CCM2):c.414G>A:p.Ala138=	coding	Benign
7	45064528	C	A	C45064528A	CCM2	NM_031443.4(CCM2):c.354C>A:p.Tyr118Ter	coding	Pathogenic
7	45064528	C	G	C45064528G	CCM2	NM_001029835.2(CCM2):c.417C>G:p.Tyr139Ter	coding	Pathogenic
7	45064532	G	A	G45064532A	CCM2	NM_001029835.2(CCM2):c.421G>A:p.Val141Ile	coding	Benign
7	45064558	G	A	G45064558A	CCM2	NM_001029835.2(CCM2):c.447G>A:p.Glu149=	coding	Benign
7	45068563	T	G	T45068563G	CCM2	NM_001029835.2(CCM2):c.656T>G:p.Leu219Arg	coding	Pathogenic
7	45069825	G	A	G45069825A	CCM2	NM_001029835.2(CCM2):c.673-1G>A	noncoding	Pathogenic
7	45069852	G	C	G45069852C	CCM2	NM_031443.4(CCM2):c.636G>C:p.Leu212=	coding	Benign
7	45069962	G	C	G45069962C	CCM2	NM_001029835.2(CCM2):c.808+1G>C	coding	Pathogenic
7	45069963	T	C	T45069963C	CCM2	NM_031443.4(CCM2):c.745+2T>C	noncoding	Pathogenic
7	45073451	C	G	C45073451G	CCM2	NM_031443.4(CCM2):c.804-9C>G	noncoding	Benign
7	45073455	C	T	C45073455T	CCM2	NM_001029835.2(CCM2):c.867-5C>T	noncoding	Benign/Likely_benign
7	45073495	C	G	C45073495G	CCM2	NM_031443.4(CCM2):c.839C>G:p.Ser280Ter	coding	Pathogenic
7	45073522	G	A	G45073522A	CCM2	NM_001029835.2(CCM2):c.929G>A:p.Ser310Asn	coding	Benign
7	45073571	G	A	G45073571A	CCM2	NM_001029835.2(CCM2):c.978G>A:p.Thr326=	coding	Benign
7	45074263	C	G	C45074263G	CCM2	NM_031443.4(CCM2):c.916-7C>G	noncoding	Benign
7	45074324	G	T	G45074324T	CCM2	NM_031443.4(CCM2):c.970G>T:p.Glu324Ter	coding	Pathogenic
7	45074338	G	A	G45074338A	CCM2	NM_031443.4(CCM2):c.984G>A:p.Gly328=	coding	Benign
7	45075771	C	T	C45075771T	CCM2	NM_031443.4(CCM2):c.1055-6C>T	noncoding	Benign
7	45075800	A	T	A45075800T	CCM2	NM_031443.4(CCM2):c.1078A>T:p.Lys360Ter	coding	Pathogenic
7	45075925	T	C	T45075925C	CCM2	NM_031443.4(CCM2):c.1203T>C:p.Asn401=	coding	Benign
7	45075982	G	A	G45075982A	CCM2	NM_001029835.2(CCM2):c.1323G>A:p.Glu441=	coding	Benign
7	45103396	G	A	G45103396A	TBRG4	NM_004749.4(TBRG4):c.1113C>T:p.Ser371=	coding	Benign
7	45109054	G	T	G45109054T	TBRG4	NM_004749.4(TBRG4):c.184C>A:p.Arg62=	coding	Benign
7	45177327	G	A	G45177327A	RAMP3	NM_005856.3(RAMP3):c.77G>A:p.Gly26Asp	coding	Benign
7	45177347	A	C	A45177347C	RAMP3	NM_005856.3(RAMP3):c.97A>C:p.Met33Leu	coding	Benign
7	45610486	C	T	C45610486T	ADCY1	NM_021116.4(ADCY1):c.897C>T:p.His299=	coding	Benign
7	45657871	C	T	C45657871T	ADCY1	NM_021116.4(ADCY1):c.1293C>T:p.Ala431=	coding	Benign
7	45662054	G	T	G45662054T	ADCY1	NM_021116.4(ADCY1):c.1450-5G>T	noncoding	Benign
7	45662163	C	T	C45662163T	ADCY1	NM_021116.4(ADCY1):c.1554C>T:p.Phe518=	coding	Benign
7	45686221	T	A	T45686221A	ADCY1	NM_021116.4(ADCY1):c.2327+6T>A	noncoding	Benign/Likely_benign
7	45703722	C	T	C45703722T	ADCY1	NM_021116.4(ADCY1):c.2694C>T:p.Asn898=	coding	Benign/Likely_benign
7	45708350	G	A	G45708350A	ADCY1	NM_021116.4(ADCY1):c.2818G>A:p.Ala940Thr	coding	Benign
7	45713725	G	A	G45713725A	ADCY1	NM_021116.4(ADCY1):c.3090G>A:p.Arg1030=	coding	Benign
7	45713747	C	T	C45713747T	ADCY1	NM_021116.4(ADCY1):c.3112C>T:p.Arg1038Ter	coding	Pathogenic
7	45713819	G	A	G45713819A	ADCY1	NM_021116.4(ADCY1):c.3184G>A:p.Gly1062Ser	coding	Benign
7	45713998	G	T	G45713998T	ADCY1	NM_021116.4(ADCY1):c.*3G>T	noncoding	Benign
7	45916598	C	T	C45916598T	IGFBP3	NM_001013398.2(IGFBP3):c.718G>A:p.Gly240Ser	coding	Benign
7	45917261	G	A	G45917261A	IGFBP3	NM_001013398.2(IGFBP3):c.600C>T:p.Ser200=	coding	Benign
7	45917447	C	T	C45917447T	IGFBP3	NM_001013398.2(IGFBP3):c.422-8G>A	noncoding	Benign
7	47278106	C	T	C47278106T	TNS3	NM_022748.12(TNS3):c.4308G>A:p.Lys1436=	coding	Benign
7	47280330	G	A	G47280330A	TNS3	NM_022748.12(TNS3):c.4122C>T:p.Pro1374=	coding	Benign
7	47291996	G	A	G47291996A	TNS3	NM_022748.12(TNS3):c.3887C>T:p.Thr1296Met	coding	Benign
7	47303013	T	A	T47303013A	TNS3	NM_022748.12(TNS3):c.3394A>T:p.Ile1132Phe	coding	Benign
7	47303115	G	C	G47303115C	TNS3	NM_022748.12(TNS3):c.3292C>G:p.Leu1098Val	coding	Benign
7	47303192	G	A	G47303192A	TNS3	NM_022748.12(TNS3):c.3215C>T:p.Thr1072Met	coding	Benign
7	47303246	G	T	G47303246T	TNS3	NM_022748.12(TNS3):c.3161C>A:p.Pro1054Gln	coding	Benign
7	47303260	C	G	C47303260G	TNS3	NM_022748.12(TNS3):c.3147G>C:p.Pro1049=	coding	Benign
7	47303308	G	C	G47303308C	TNS3	NM_022748.12(TNS3):c.3099C>G:p.Pro1033=	coding	Benign
7	47303481	A	G	A47303481G	TNS3	NM_022748.12(TNS3):c.2926T>C:p.Ser976Pro	coding	Benign
7	47344802	G	A	G47344802A	TNS3	NM_022748.12(TNS3):c.2603C>T:p.Pro868Leu	coding	Benign
7	47344813	C	T	C47344813T	TNS3	NM_022748.12(TNS3):c.2592G>A:p.Pro864=	coding	Benign
7	47345048	G	A	G47345048A	TNS3	NM_022748.12(TNS3):c.2452-10C>T	noncoding	Benign
7	47368611	C	T	C47368611T	TNS3	NM_022748.12(TNS3):c.2035G>A:p.Gly679Ser	coding	Benign
7	47368612	G	A	G47368612A	TNS3	NM_022748.12(TNS3):c.2034C>T:p.Ala678=	coding	Benign
7	47368655	G	A	G47368655A	TNS3	NM_022748.12(TNS3):c.1991C>T:p.Ala664Val	coding	Benign
7	47369185	C	T	C47369185T	TNS3	NM_022748.12(TNS3):c.1461G>A:p.Leu487=	coding	Benign
7	47369507	G	A	G47369507A	TNS3	NM_022748.12(TNS3):c.1139C>T:p.Pro380Leu	coding	Benign
7	47413942	C	T	C47413942T	TNS3	NM_022748.12(TNS3):c.642G>A:p.Gly214=	coding	Benign
7	47428383	G	A	G47428383A	TNS3	NM_022748.12(TNS3):c.325-7C>T	noncoding	Benign
7	47439481	G	A	G47439481A	TNS3	NM_022748.12(TNS3):c.150+6C>T	noncoding	Benign
7	47792779	A	G	A47792779G	PKD1L1	NM_138295.4(PKD1L1):c.8374T>C:p.Phe2792Leu	coding	Benign
7	47803347	G	A	G47803347A	PKD1L1	NM_138295.4(PKD1L1):c.7828-3C>T	noncoding	Benign
7	47808267	G	A	G47808267A	PKD1L1	NM_138295.4(PKD1L1):c.7807C>T:p.Leu2603Phe	coding	Benign
7	47815343	C	T	C47815343T	PKD1L1	NM_138295.4(PKD1L1):c.7080G>A:p.Pro2360=	coding	Benign
7	47815351	G	A	G47815351A	PKD1L1	NM_138295.4(PKD1L1):c.7072C>T:p.Arg2358Cys	coding	Benign
7	47815379	G	A	G47815379A	PKD1L1	NM_138295.4(PKD1L1):c.7044C>T:p.Gly2348=	coding	Benign
7	47821143	C	T	C47821143T	PKD1L1	NM_138295.4(PKD1L1):c.6898G>A:p.Val2300Ile	coding	Benign
7	47827362	C	T	C47827362T	PKD1L1	NM_138295.4(PKD1L1):c.6842G>A:p.Arg2281Gln	coding	Benign
7	47834343	C	T	C47834343T	PKD1L1	NM_138295.4(PKD1L1):c.6170G>A:p.Arg2057His	coding	Benign
7	47834356	C	T	C47834356T	PKD1L1	NM_138295.4(PKD1L1):c.6157G>A:p.Ala2053Thr	coding	Benign
7	47834981	G	C	G47834981C	PKD1L1	NM_138295.4(PKD1L1):c.6113C>G:p.Thr2038Ser	coding	Benign
7	47835241	G	A	G47835241A	PKD1L1	NM_138295.4(PKD1L1):c.5946C>T:p.Pro1982=	coding	Benign
7	47846985	T	C	T47846985C	PKD1L1	NM_138295.4(PKD1L1):c.5047A>G:p.Thr1683Ala	coding	Benign
7	47866471	C	T	C47866471T	PKD1L1	NM_138295.4(PKD1L1):c.4040G>A:p.Arg1347Gln	coding	Benign
7	47877528	T	C	T47877528C	PKD1L1	NM_138295.4(PKD1L1):c.3624A>G:p.Ala1208=	coding	Benign
7	47882042	G	A	G47882042A	PKD1L1	NM_138295.4(PKD1L1):c.3309C>T:p.Ala1103=	coding	Benign
7	47885786	A	G	A47885786G	PKD1L1	NM_138295.4(PKD1L1):c.3105T>C:p.Gly1035=	coding	Benign
7	47885922	C	T	C47885922T	PKD1L1	NM_138295.4(PKD1L1):c.2969G>A:p.Arg990Gln	coding	Benign/Likely_benign
7	47885937	G	A	G47885937A	PKD1L1	NM_138295.4(PKD1L1):c.2954C>T:p.Thr985Ile	coding	Benign
7	47886020	C	T	C47886020T	PKD1L1	NM_138295.4(PKD1L1):c.2871G>A:p.Ser957=	coding	Benign
7	47888051	C	T	C47888051T	PKD1L1	NM_138295.4(PKD1L1):c.2775G>A:p.Pro925=	coding	Benign
7	47890618	G	A	G47890618A	PKD1L1	NM_138295.4(PKD1L1):c.2599C>T:p.Leu867=	coding	Benign
7	47893897	C	T	C47893897T	PKD1L1	NM_138295.4(PKD1L1):c.2434G>A:p.Asp812Asn	coding	Benign
7	47898039	G	A	G47898039A	PKD1L1	NM_138295.4(PKD1L1):c.2220C>T:p.Leu740=	coding	Benign
7	47902412	G	A	G47902412A	PKD1L1	NM_138295.4(PKD1L1):c.2031C>T:p.Pro677=	coding	Benign
7	47905159	T	C	T47905159C	PKD1L1	NM_138295.4(PKD1L1):c.1689A>G:p.Gln563=	coding	Benign
7	47905329	T	C	T47905329C	PKD1L1	NM_138295.4(PKD1L1):c.1523-4A>G	noncoding	Benign
7	47908070	G	A	G47908070A	PKD1L1	NM_138295.4(PKD1L1):c.1402+7C>T	noncoding	Benign
7	47908087	C	T	C47908087T	PKD1L1	NM_138295.4(PKD1L1):c.1392G>A:p.Val464=	coding	Benign
7	47908239	T	C	T47908239C	PKD1L1	NM_138295.4(PKD1L1):c.1240A>G:p.Met414Val	coding	Benign
7	47929253	G	C	G47929253C	PKD1L1	NM_138295.4(PKD1L1):c.1011C>G:p.His337Gln	coding	Benign
7	47929331	A	G	A47929331G	PKD1L1	NM_138295.4(PKD1L1):c.933T>C:p.Arg311=	coding	Benign
7	47929356	C	T	C47929356T	PKD1L1	NM_138295.4(PKD1L1):c.908G>A:p.Arg303Gln	coding	Benign
7	47931313	G	A	G47931313A	PKD1L1	NM_138295.4(PKD1L1):c.528C>T:p.Gly176=	coding	Benign
7	47931965	C	T	C47931965T	PKD1L1	NM_138295.4(PKD1L1):c.490G>A:p.Ala164Thr	coding	Benign
7	47943395	C	T	C47943395T	PKD1L1	NM_138295.5(PKD1L1):c.160+1G>A	noncoding	Pathogenic
7	47943434	A	T	A47943434T	PKD1L1	NM_138295.4(PKD1L1):c.122T>A:p.Leu41Gln	coding	Benign
7	47948388	A	C	A47948388C	PKD1L1	NM_138295.4(PKD1L1):c.44+9T>G	noncoding	Benign
7	47979469	T	C	T47979469C	HUS1	NM_004507.4(HUS1):c.51A>G:p.Thr17=	coding	Benign
7	48107042	A	G	A48107042G	UPP1	NM_003364.4(UPP1):c.606A>G:p.Thr202=	coding	Benign
7	48192983	T	C	T48192983C	ABCA13	NM_152701.5(ABCA13):c.94T>C:p.Trp32Arg	coding	Benign
7	48241073	C	T	C48241073T	ABCA13	NM_152701.5(ABCA13):c.1262+7C>T	noncoding	Benign
7	48244571	C	G	C48244571G	ABCA13	NM_152701.5(ABCA13):c.1263-5C>G	noncoding	Benign
7	48244587	T	A	T48244587A	ABCA13	NM_152701.5(ABCA13):c.1274T>A:p.Leu425Gln	coding	Benign
7	48244657	T	C	T48244657C	ABCA13	NM_152701.5(ABCA13):c.1344T>C:p.Asp448=	coding	Benign
7	48271888	A	C	A48271888C	ABCA13	NM_152701.5(ABCA13):c.2222A>C:p.Glu741Ala	coding	Benign
7	48272430	G	A	G48272430A	ABCA13	NM_152701.5(ABCA13):c.2764G>A:p.Ala922Thr	coding	Benign
7	48272603	G	C	G48272603C	ABCA13	NM_152701.5(ABCA13):c.2937G>C:p.Gln979His	coding	Benign
7	48274554	C	G	C48274554G	ABCA13	NM_152701.5(ABCA13):c.4888C>G:p.Leu1630Val	coding	Benign
7	48275279	A	C	A48275279C	ABCA13	NM_152701.5(ABCA13):c.5613A>C:p.Ser1871=	coding	Benign
7	48276344	C	T	C48276344T	ABCA13	NM_152701.5(ABCA13):c.6678C>T:p.Asn2226=	coding	Benign
7	48279710	C	G	C48279710G	ABCA13	NM_152701.5(ABCA13):c.8516C>G:p.Thr2839Ser	coding	Benign
7	48313170	T	C	T48313170C	ABCA13	NM_152701.5(ABCA13):c.9620T>C:p.Leu3207Pro	coding	Benign
7	48372190	A	C	A48372190C	ABCA13	NM_152701.5(ABCA13):c.10826A>C:p.His3609Pro	coding	Benign
7	48372487	A	T	A48372487T	ABCA13	NM_152701.5(ABCA13):c.11123A>T:p.Gln3708Leu	coding	Benign
7	48391932	C	T	C48391932T	ABCA13	NM_152701.5(ABCA13):c.11666C>T:p.Thr3889Met	coding	Benign
7	48403803	T	C	T48403803C	ABCA13	NM_152701.5(ABCA13):c.11994T>C:p.Val3998=	coding	Benign
7	48410576	C	T	C48410576T	ABCA13	NM_152701.5(ABCA13):c.12127C>T:p.Arg4043Cys	coding	Benign
7	48410657	C	T	C48410657T	ABCA13	NM_152701.5(ABCA13):c.12208C>T:p.Arg4070Cys	coding	Benign
7	48412378	T	C	T48412378C	ABCA13	NM_152701.5(ABCA13):c.12254T>C:p.Leu4085Pro	coding	Benign
7	48467034	A	G	A48467034G	ABCA13	NM_152701.5(ABCA13):c.12894A>G:p.Leu4298=	coding	Benign
7	48481063	C	G	C48481063G	ABCA13	NM_152701.5(ABCA13):c.13003C>G:p.Pro4335Ala	coding	Benign
7	48507915	C	A	C48507915A	ABCA13	NM_152701.5(ABCA13):c.13390C>A:p.Leu4464Met	coding	Benign
7	48507969	G	T	G48507969T	ABCA13	NM_152701.5(ABCA13):c.13444G>T:p.Val4482Leu	coding	Benign
7	50093145	C	G	C50093145G	ZPBP	NM_007009.3(ZPBP):c.50G>C:p.Arg17Pro	coding	Benign
7	50368205	C	A	C50368205A	IKZF1	NM_006060.6(IKZF1):c.161-8328C>A	coding	Benign
7	50382594	A	G	A50382594G	IKZF1	NM_006060.6(IKZF1):c.476A>G:p.Asn159Ser	coding	Pathogenic
7	50382602	C	T	C50382602T	IKZF1	NM_006060.6(IKZF1):c.484C>T:p.Arg162Trp	coding	Pathogenic
7	50382603	G	A	G50382603A	IKZF1	NM_006060.6(IKZF1):c.485G>A:p.Arg162Gln	coding	Pathogenic
7	50382603	G	T	G50382603T	IKZF1	NM_006060.6(IKZF1):c.485G>T:p.Arg162Leu	coding	Pathogenic
7	50382618	A	G	A50382618G	IKZF1	NM_006060.6(IKZF1):c.500A>G:p.His167Arg	coding	Pathogenic
7	50382664	C	A	C50382664A	IKZF1	NM_006060.6(IKZF1):c.546C>A:p.Cys182Ter	coding	Pathogenic
7	50382669	G	A	G50382669A	IKZF1	NM_006060.6(IKZF1):c.551G>A:p.Arg184Gln	coding	Pathogenic
7	50382702	A	G	A50382702G	IKZF1	NM_006060.6(IKZF1):c.584A>G:p.His195Arg	coding	Pathogenic
7	50387384	A	G	A50387384G	IKZF1	NM_006060.6(IKZF1):c.629A>G:p.Tyr210Cys	coding	Pathogenic
7	50446757	C	T	C50446757T	FIGNL1	NM_001042762.4(FIGNL1):c.531G>A:p.Pro177=	coding	Benign
7	50458521	G	A	G50458521A	DDC	NM_001082971.2(DDC):c.*341C>T	noncoding	Benign
7	50458548	A	G	A50458548G	DDC	NM_001082971.2(DDC):c.*314T>C	noncoding	Benign
7	50458565	A	G	A50458565G	DDC	NM_001082971.2(DDC):c.*297T>C	noncoding	Benign
7	50463289	C	T	C50463289T	DDC	NM_001082971.2(DDC):c.1385G>A:p.Arg462Gln	coding	Benign
7	50467228	A	C	A50467228C	DDC	NM_001082971.2(DDC):c.1228T>G:p.Cys410Gly	coding	Pathogenic
7	50470140	C	T	C50470140T	DDC	NM_001082971.2(DDC):c.1073G>A:p.Arg358His	coding	Pathogenic/Likely_pathogenic
7	50476616	C	T	C50476616T	DDC	NM_001082971.2(DDC):c.1041+8G>A	noncoding	Benign
7	50476625	C	T	C50476625T	DDC	NM_001082971.2(DDC):c.1040G>A:p.Arg347Gln	coding	Pathogenic
7	50495369	A	G	A50495369G	DDC	NM_001082971.2(DDC):c.925T>C:p.Phe309Leu	coding	Pathogenic
7	50499201	C	T	C50499201T	DDC	NM_001082971.2(DDC):c.823G>A:p.Ala275Thr	coding	Pathogenic
7	50504025	G	A	G50504025A	DDC	NM_001082971.2(DDC):c.749C>T:p.Ser250Phe	coding	Pathogenic
7	50504057	C	A	C50504057A	DDC	NM_001082971.2(DDC):c.717G>T:p.Met239Ile	coding	Benign
7	50528133	T	A	T50528133A	DDC	NM_001082971.2(DDC):c.714+4A>T	noncoding	Pathogenic
7	50528202	T	C	T50528202C	DDC	NM_001082971.2(DDC):c.649A>G:p.Met217Val	coding	Benign
7	50528222	G	A	G50528222A	DDC	NM_001082971.2(DDC):c.629C>T:p.Pro210Leu	coding	Benign/Likely_benign
7	50529332	C	G	C50529332G	DDC	NM_001082971.2(DDC):c.446G>C:p.Ser149Thr	coding	Pathogenic
7	50529339	T	G	T50529339G	DDC	NM_001082971.2(DDC):c.439A>C:p.Ser147Arg	coding	Pathogenic
7	50529358	G	A	G50529358A	DDC	NM_001082971.2(DDC):c.436-16C>T	noncoding	Benign
7	50539926	C	T	C50539926T	DDC	NM_001082971.2(DDC):c.304G>A:p.Gly102Ser	coding	Pathogenic
7	50539958	G	A	G50539958A	DDC	NM_001082971.2(DDC):c.272C>T:p.Ala91Val	coding	Pathogenic
7	50539996	G	A	G50539996A	DDC	NM_001082971.2(DDC):c.234C>T:p.Ala78=	coding	Benign
7	50543903	C	A	C50543903A	DDC	NM_001082971.2(DDC):c.183G>T:p.Glu61Asp	coding	Benign/Likely_benign
7	50543990	G	A	G50543990A	DDC	NM_001082971.2(DDC):c.96C>T:p.Asp32=	coding	Benign/Likely_benign
7	50703853	G	A	G50703853A	GRB10	NM_001350814.2(GRB10):c.107C>T:p.Pro36Leu	coding	Benign
7	51025175	G	A	G51025175A	COBL	NM_015198.5(COBL):c.3702C>T:p.Thr1234=	coding	Benign
7	51029295	G	A	G51029295A	COBL	NM_015198.5(COBL):c.1801C>T:p.His601Tyr	coding	Benign
7	51029558	G	A	G51029558A	COBL	NM_015198.5(COBL):c.1538C>T:p.Ser513Phe	coding	Benign
7	51190869	G	A	G51190869A	COBL	NM_015198.5(COBL):c.666C>T:p.Tyr222=	coding	Benign
7	51219815	C	T	C51219815T	COBL	NM_015198.5(COBL):c.171G>A:p.Ala57=	coding	Benign
7	51219845	C	T	C51219845T	COBL	NM_015198.5(COBL):c.141G>A:p.Ser47=	coding	Benign
7	55146655	C	T	C55146655T	EGFR	NM_005228.5(EGFR):c.474C>T:p.Asn158=	coding	Benign
7	55146712	G	A	G55146712A	EGFR	NM_005228.5(EGFR):c.531G>A:p.Ser177=	coding	Benign
7	55146750	G	A	G55146750A	EGFR	NM_005228.5(EGFR):c.559+10G>A	noncoding	Benign
7	55155861	C	T	C55155861T	EGFR	NM_005228.5(EGFR):c.921C>T:p.Cys307=	coding	Benign
7	55155917	G	T	G55155917T	EGFR	NM_005228.5(EGFR):c.977G>T:p.Cys326Phe	coding	Pathogenic
7	55155928	G	A	G55155928A	EGFR	NM_005228.5(EGFR):c.988G>A:p.Glu330Lys	coding	Pathogenic
7	55156645	G	A	G55156645A	EGFR	NM_005228.5(EGFR):c.1119G>A:p.Pro373=	coding	Benign
7	55157738	G	A	G55157738A	EGFR	NM_005228.5(EGFR):c.1283G>A:p.Gly428Asp	coding	Pathogenic
7	55160132	A	G	A55160132G	EGFR	NM_005228.5(EGFR):c.1299-7A>G	noncoding	Benign
7	55160157	A	G	A55160157G	EGFR	NM_005228.5(EGFR):c.1317A>G:p.Ala439=	coding	Benign
7	55161509	C	T	C55161509T	EGFR	NM_005228.5(EGFR):c.1509C>T:p.Gly503=	coding	Benign
7	55161554	G	A	G55161554A	EGFR	NM_005228.5(EGFR):c.1554G>A:p.Pro518=	coding	Benign
7	55161562	G	A	G55161562A	EGFR	NM_005228.5(EGFR):c.1562G>A:p.Arg521Lys	coding	Benign
7	55163733	T	C	T55163733C	EGFR	NM_005228.5(EGFR):c.1632T>C:p.Gly544=	coding	Benign
7	55165345	G	A	G55165345A	EGFR	NM_005228.5(EGFR):c.1788G>A:p.Pro596=	coding	Benign
7	55165387	C	T	C55165387T	EGFR	NM_005228.5(EGFR):c.1830C>T:p.Tyr610=	coding	Benign
7	55165396	C	T	C55165396T	EGFR	NM_005228.5(EGFR):c.1839C>T:p.Ala613=	coding	Benign
7	55165435	C	T	C55165435T	EGFR	NM_005228.5(EGFR):c.1878C>T:p.Tyr626=	coding	Benign
7	55171181	T	A	T55171181A	EGFR	NM_005228.5(EGFR):c.1887T>A:p.Thr629=	coding	Benign
7	55173110	C	T	C55173110T	EGFR	NM_005228.5(EGFR):c.2047C>T:p.Leu683=	coding	Benign
7	55174015	G	C	G55174015C	EGFR	NM_005228.5(EGFR):c.2156G>C:p.Gly719Ala	coding	Pathogenic
7	55181298	C	G	C55181298G	EGFR	NM_005228.5(EGFR):c.2289C>G:p.Ala763=	coding	Benign/Likely_benign
7	55181312	G	T	G55181312T	EGFR	NM_005228.5(EGFR):c.2303G>T:p.Ser768Ile	coding	Pathogenic
7	55181370	G	A	G55181370A	EGFR	NM_005228.5(EGFR):c.2361G>A:p.Gln787=	coding	Benign
7	55191736	G	A	G55191736A	EGFR	NM_005228.5(EGFR):c.2487G>A:p.Glu829=	coding	Benign
7	55191749	G	T	G55191749T	EGFR	NM_005228.5(EGFR):c.2500G>T:p.Val834Leu	coding	Pathogenic
7	55191757	C	T	C55191757T	EGFR	NM_005228.5(EGFR):c.2508C>T:p.Arg836=	coding	Benign
7	55198763	C	T	C55198763T	EGFR	NM_005228.5(EGFR):c.2748C>T:p.Asp916=	coding	Benign
7	55201204	A	C	A55201204C	EGFR	NM_005228.5(EGFR):c.2963A>C:p.His988Pro	coding	Benign
7	55201223	C	T	C55201223T	EGFR	NM_005228.5(EGFR):c.2982C>T:p.Asp994=	coding	Benign
7	55201256	A	G	A55201256G	EGFR	NM_005228.5(EGFR):c.3015A>G:p.Glu1005=	coding	Benign
7	55202564	C	T	C55202564T	EGFR	NM_005228.5(EGFR):c.3210C>T:p.Ser1070=	coding	Benign
7	55205469	G	A	G55205469A	EGFR	NM_005228.5(EGFR):c.3485G>A:p.Ser1162Asn	coding	Benign
7	55205576	C	T	C55205576T	EGFR	NM_005228.5(EGFR):c.3592C>T:p.Leu1198=	coding	Benign
7	55412005	A	G	A55412005G	LANCL2	NM_018697.3(LANCL2):c.924A>G:p.Ser308=	coding	Benign
7	55843082	G	T	G55843082T	SEPTIN14	NM_207366.3(SEPTIN14):c.418C>A:p.Leu140Ile	coding	Benign
7	55844714	C	T	C55844714T	SEPTIN14	NM_207366.3(SEPTIN14):c.180G>A:p.Glu60=	coding	Benign
7	55861987	T	C	T55861987C	SEPTIN14	NM_207366.3(SEPTIN14):c.10A>G:p.Arg4Gly	coding	Benign
7	55861993	C	T	C55861993T	SEPTIN14	NM_207366.3(SEPTIN14):c.4G>A:p.Ala2Thr	coding	Benign
7	56011272	G	A	G56011272A	PSPH	NM_004577.4(PSPH):c.*490C>T	noncoding	Benign
7	56011751	G	A	G56011751A	PSPH	NM_004577.4(PSPH):c.*11C>T	noncoding	Benign
7	56011754	A	G	A56011754G	PSPH	NM_004577.4(PSPH):c.*8T>C	noncoding	Benign
7	56017257	T	C	T56017257C	PSPH	NM_004577.4(PSPH):c.398A>G:p.Asn133Ser	coding	Benign
7	56019671	G	T	G56019671T	PSPH	NM_004577.4(PSPH):c.204C>A:p.Leu68=	coding	Benign
7	56019672	A	G	A56019672G	PSPH	NM_004577.4(PSPH):c.203T>C:p.Leu68Pro	coding	Benign
7	56019681	C	T	C56019681T	PSPH	NM_004577.4(PSPH):c.194G>A:p.Arg65His	coding	Benign
7	56019686	T	C	T56019686C	PSPH	NM_004577.4(PSPH):c.189A>G:p.Thr63=	coding	Benign
7	56019706	G	A	G56019706A	PSPH	NM_004577.4(PSPH):c.169C>T:p.Pro57Ser	coding	Benign
7	56019716	G	A	G56019716A	PSPH	NM_004577.4(PSPH):c.159C>T:p.Gly53=	coding	Benign
7	56019720	A	G	A56019720G	PSPH	NM_004577.4(PSPH):c.155T>C:p.Met52Thr	coding	Pathogenic
7	56019730	G	A	G56019730A	PSPH	NM_004577.4(PSPH):c.145C>T:p.Arg49Trp	coding	Benign
7	56021087	G	A	G56021087A	PSPH	NM_004577.4(PSPH):c.126C>T:p.Asp42=	coding	Benign
7	56021093	A	T	A56021093T	PSPH	NM_004577.4(PSPH):c.120T>A:p.Val40=	coding	Benign
7	56021096	G	A	G56021096A	PSPH	NM_004577.4(PSPH):c.117C>T:p.Gly39=	coding	Benign
7	56021110	C	T	C56021110T	PSPH	NM_004577.4(PSPH):c.103G>A:p.Ala35Thr	coding	Pathogenic
7	56021118	T	C	T56021118C	PSPH	NM_004577.4(PSPH):c.95A>G:p.Asp32Gly	coding	Benign/Likely_benign
7	56021119	C	T	C56021119T	PSPH	NM_004577.4(PSPH):c.94G>A:p.Asp32Asn	coding	Pathogenic
7	56021132	T	A	T56021132A	PSPH	NM_004577.4(PSPH):c.81A>T:p.Arg27Ser	coding	Benign
7	56021235	C	T	C56021235T	PSPH	NM_004577.4(PSPH):c.-19-4G>A	noncoding	Benign
7	56051275	C	A	C56051275A	PSPH	NM_004577.4(PSPH):c.-429G>T	noncoding	Benign
7	56102878	C	T	C56102878T	CHCHD2	NM_016139.4(CHCHD2):c.434G>A:p.Arg145Gln	coding	Pathogenic
7	56102894	C	T	C56102894T	CHCHD2	NM_016139.4(CHCHD2):c.418G>A:p.Val140Met	coding	Benign
7	56104221	C	T	C56104221T	CHCHD2	NM_016139.4(CHCHD2):c.300+5G>A	noncoding	Pathogenic
7	56104344	G	A	G56104344A	CHCHD2	NM_016139.4(CHCHD2):c.182C>T:p.Thr61Ile	coding	Pathogenic
7	56106409	G	A	G56106409A	CHCHD2	NM_016139.4(CHCHD2):c.5C>T:p.Pro2Leu	coding	Benign
7	65960725	T	C	T65960725C	GUSB	NM_000181.4(GUSB):c.*172A>G	noncoding	Benign
7	65960842	G	A	G65960842A	GUSB	NM_000181.4(GUSB):c.*55C>T	noncoding	Benign
7	65960907	A	G	A65960907G	GUSB	NM_000181.4(GUSB):c.1946T>C:p.Leu649Pro	coding	Benign
7	65960972	C	A	C65960972A	GUSB	NM_000181.4(GUSB):c.1881G>T:p.Trp627Cys	coding	Pathogenic
7	65960997	G	A	G65960997A	GUSB	NM_000181.4(GUSB):c.1856C>T:p.Ala619Val	coding	Pathogenic
7	65961022	G	A	G65961022A	GUSB	NM_000181.4(GUSB):c.1831C>T:p.Arg611Trp	coding	Pathogenic
7	65964360	C	T	C65964360T	GUSB	NM_000181.4(GUSB):c.1752G>A:p.Glu584=	coding	Benign
7	65964372	G	A	G65964372A	GUSB	NM_000181.4(GUSB):c.1740C>T:p.Tyr580=	coding	Benign
7	65964382	C	A	C65964382A	GUSB	NM_000181.4(GUSB):c.1730G>T:p.Arg577Leu	coding	Pathogenic
7	65967580	T	C	T65967580C	GUSB	NM_000181.4(GUSB):c.1653+151A>G	noncoding	Benign
7	65967767	G	A	G65967767A	GUSB	NM_000181.4(GUSB):c.1617C>T:p.Ser539=	coding	Pathogenic
7	65967863	C	T	C65967863T	GUSB	NM_000181.4(GUSB):c.1521G>A:p.Trp507Ter	coding	Pathogenic
7	65967900	T	C	T65967900C	GUSB	NM_000181.4(GUSB):c.1484A>G:p.Tyr495Cys	coding	Pathogenic
7	65967902	C	T	C65967902T	GUSB	NM_000181.4(GUSB):c.1482G>A:p.Pro494=	coding	Benign/Likely_benign
7	65974327	C	T	C65974327T	GUSB	NM_000181.4(GUSB):c.1359G>A:p.Ala453=	coding	Benign
7	65974348	C	T	C65974348T	GUSB	NM_000181.4(GUSB):c.1338G>A:p.Trp446Ter	coding	Pathogenic
7	65974349	C	T	C65974349T	GUSB	NM_000181.4(GUSB):c.1337G>A:p.Trp446Ter	coding	Pathogenic
7	65974357	G	A	G65974357A	GUSB	NM_000181.4(GUSB):c.1329C>T:p.Val443=	coding	Benign/Likely_benign
7	65974525	C	T	C65974525T	GUSB	NM_000181.4(GUSB):c.1244+1G>A	noncoding	Pathogenic
7	65974686	C	T	C65974686T	GUSB	NM_000181.4(GUSB):c.1084G>A:p.Asp362Asn	coding	Pathogenic
7	65974701	G	A	G65974701A	GUSB	NM_000181.4(GUSB):c.1069C>T:p.Arg357Ter	coding	Pathogenic/Likely_pathogenic
7	65974892	G	C	G65974892C	GUSB	NM_000181.4(GUSB):c.1065+27C>G	noncoding	Benign
7	65974923	G	A	G65974923A	GUSB	NM_000181.4(GUSB):c.1061C>T:p.Ala354Val	coding	Pathogenic
7	65974934	C	G	C65974934G	GUSB	NM_000181.4(GUSB):c.1050G>C:p.Lys350Asn	coding	Pathogenic
7	65974943	A	G	A65974943G	GUSB	NM_000181.4(GUSB):c.1041T>C:p.Gly347=	coding	Benign
7	65976061	C	T	C65976061T	GUSB	NM_000181.4(GUSB):c.866G>A:p.Trp289Ter	coding	Pathogenic
7	65979445	G	A	G65979445A	GUSB	NM_000181.4(GUSB):c.678C>T:p.Thr226=	coding	Benign
7	65979477	G	A	G65979477A	GUSB	NM_000181.4(GUSB):c.646C>T:p.Arg216Trp	coding	Pathogenic
7	65979747	T	C	T65979747C	GUSB	NM_000181.4(GUSB):c.561A>G:p.Gln187=	coding	Benign
7	65979778	G	A	G65979778A	GUSB	NM_000181.4(GUSB):c.530C>T:p.Thr177Ile	coding	Pathogenic
7	65979782	G	A	G65979782A	GUSB	NM_000181.4(GUSB):c.526C>T:p.Leu176Phe	coding	Pathogenic
7	65979866	G	A	G65979866A	GUSB	NM_000181.4(GUSB):c.442C>T:p.Pro148Ser	coding	Pathogenic
7	65980292	G	A	G65980292A	GUSB	NM_000181.4(GUSB):c.328C>T:p.Arg110Ter	coding	Pathogenic
7	65980398	G	A	G65980398A	GUSB	NM_000181.4(GUSB):c.222C>T:p.Thr74=	coding	Benign/Likely_benign
7	65980404	G	A	G65980404A	GUSB	NM_000181.4(GUSB):c.216C>T:p.Gly72=	coding	Benign
7	65982022	G	A	G65982022A	GUSB	NM_000181.4(GUSB):c.162C>T:p.Asn54=	coding	Benign
7	65982183	T	G	T65982183G	GUSB	NM_000181.4(GUSB):c.1A>C:p.Met1Leu	coding	Pathogenic
7	65982195	C	T	C65982195T	GUSB	NM_000181.4(GUSB):c.-12G>A	noncoding	Benign
7	66076320	C	G	C66076320G	ASL	NM_000048.4(ASL):c.12+227C>G	noncoding	Benign
7	66081825	G	A	G66081825A	ASL	NM_000048.4(ASL):c.35G>A:p.Arg12Gln	coding	Pathogenic/Likely_pathogenic
7	66081952	C	T	C66081952T	ASL	NM_000048.4(ASL):c.162C>T:p.Leu54=	coding	Benign/Likely_benign
7	66081965	G	A	G66081965A	ASL	NM_000048.4(ASL):c.175G>A:p.Glu59Lys	coding	Pathogenic/Likely_pathogenic
7	66081973	C	T	C66081973T	ASL	NM_000048.4(ASL):c.183C>T:p.Asp61=	coding	Benign/Likely_benign
7	66082417	A	C	A66082417C	ASL	NM_000048.4(ASL):c.257A>C:p.Glu86Ala	coding	Pathogenic
7	66082443	C	T	C66082443T	ASL	NM_000048.4(ASL):c.283C>T:p.Arg95Cys	coding	Pathogenic
7	66082880	G	T	G66082880T	ASL	NM_000048.4(ASL):c.292G>T:p.Glu98Ter	coding	Pathogenic/Likely_pathogenic
7	66082887	T	C	T66082887C	ASL	NM_000048.4(ASL):c.299T>C:p.Ile100Thr	coding	Pathogenic/Likely_pathogenic
7	66082897	G	A	G66082897A	ASL	NM_000048.4(ASL):c.309G>A:p.Thr103=	coding	Benign/Likely_benign
7	66082925	C	T	C66082925T	ASL	NM_000048.4(ASL):c.337C>T:p.Arg113Trp	coding	Pathogenic/Likely_pathogenic
7	66082934	C	T	C66082934T	ASL	NM_000048.4(ASL):c.346C>T:p.Gln116Ter	coding	Pathogenic
7	66083082	C	T	C66083082T	ASL	NM_000048.4(ASL):c.354C>T:p.Val118=	coding	Benign
7	66083104	C	T	C66083104T	ASL	NM_000048.4(ASL):c.376C>T:p.Arg126Trp	coding	Pathogenic
7	66083120	C	T	C66083120T	ASL	NM_000048.4(ASL):c.392C>T:p.Thr131Met	coding	Benign/Likely_benign
7	66083175	G	A	G66083175A	ASL	NM_000048.4(ASL):c.446+1G>A	coding	Pathogenic
7	66086584	G	A	G66086584A	ASL	NM_000048.4(ASL):c.447-1G>A	noncoding	Pathogenic
7	66086599	T	C	T66086599C	ASL	NM_000048.4(ASL):c.461T>C:p.Leu154Pro	coding	Pathogenic
7	66086664	T	G	T66086664G	ASL	NM_000048.4(ASL):c.524+2T>G	noncoding	Pathogenic
7	66086751	G	A	G66086751A	ASL	NM_000048.4(ASL):c.532G>A:p.Val178Met	coding	Pathogenic
7	66086763	C	T	C66086763T	ASL	NM_000048.4(ASL):c.544C>T:p.Arg182Ter	coding	Pathogenic
7	66086764	G	A	G66086764A	ASL	NM_000048.4(ASL):c.545G>A:p.Arg182Gln	coding	Pathogenic/Likely_pathogenic
7	66086775	C	A	C66086775A	ASL	NM_000048.4(ASL):c.556C>A:p.Arg186=	coding	Benign/Likely_benign
7	66086776	G	A	G66086776A	ASL	NM_000048.4(ASL):c.557G>A:p.Arg186Gln	coding	Pathogenic
7	66086795	G	A	G66086795A	ASL	NM_000048.4(ASL):c.576G>A:p.Lys192=	coding	Benign/Likely_benign
7	66086797	G	A	G66086797A	ASL	NM_000048.4(ASL):c.578G>A:p.Arg193Gln	coding	Pathogenic/Likely_pathogenic
7	66086822	G	A	G66086822A	ASL	NM_000048.4(ASL):c.602+1G>A	coding	Pathogenic/Likely_pathogenic
7	66086834	C	T	C66086834T	ASL	NM_000048.4(ASL):c.602+13C>T	noncoding	Benign
7	66086944	T	C	T66086944C	ASL	NM_000048.4(ASL):c.602+123T>C	noncoding	Benign
7	66087368	C	T	C66087368T	ASL	NM_000048.4(ASL):c.637C>T:p.Arg213Ter	coding	Pathogenic
7	66087380	C	T	C66087380T	ASL	NM_000048.4(ASL):c.649C>T:p.Arg217Ter	coding	Pathogenic
7	66087627	T	C	T66087627C	ASL	NM_000048.4(ASL):c.656-102T>C	noncoding	Benign
7	66087724	C	A	C66087724A	ASL	NM_000048.4(ASL):c.656-5C>A	noncoding	Benign/Likely_benign
7	66087779	C	T	C66087779T	ASL	NM_000048.4(ASL):c.706C>T:p.Arg236Trp	coding	Pathogenic
7	66087805	A	T	A66087805T	ASL	NM_000048.4(ASL):c.718+14A>T	noncoding	Benign
7	66088850	C	A	C66088850A	ASL	NM_000048.4(ASL):c.762C>A:p.Ser254Arg	coding	Pathogenic
7	66089114	A	G	A66089114G	ASL	NM_000048.4(ASL):c.857A>G:p.Gln286Arg	coding	Pathogenic
7	66089146	C	T	C66089146T	ASL	NM_000048.4(ASL):c.889C>T:p.Arg297Trp	coding	Pathogenic
7	66089284	G	T	G66089284T	ASL	NM_000048.4(ASL):c.927G>T:p.Gly309=	coding	Benign/Likely_benign
7	66089381	G	T	G66089381T	ASL	NM_000048.4(ASL):c.978+46G>T	noncoding	Benign
7	66089693	C	T	C66089693T	ASL	NM_000048.4(ASL):c.1060C>T:p.Gln354Ter	coding	Pathogenic
7	66089711	C	G	C66089711G	ASL	NM_000048.4(ASL):c.1062+16C>G	noncoding	Benign
7	66092078	C	T	C66092078T	ASL	NM_000048.4(ASL):c.1135C>T:p.Arg379Cys	coding	Pathogenic/Likely_pathogenic
7	66092566	C	T	C66092566T	ASL	NM_000048.4(ASL):c.1153C>T:p.Arg385Cys	coding	Pathogenic/Likely_pathogenic
7	66092577	C	T	C66092577T	ASL	NM_000048.4(ASL):c.1164C>T:p.His388=	coding	Benign/Likely_benign
7	66092795	C	T	C66092795T	ASL	NM_000048.4(ASL):c.1278C>T:p.Cys426=	coding	Benign/Likely_benign
7	66092877	C	T	C66092877T	ASL	NM_000048.4(ASL):c.1360C>T:p.Gln454Ter	coding	Pathogenic
7	66092883	C	T	C66092883T	ASL	NM_000048.4(ASL):c.1366C>T:p.Arg456Trp	coding	Pathogenic
7	66092905	A	G	A66092905G	ASL	NM_000048.4(ASL):c.1388A>G:p.Gln463Arg	coding	Benign
7	66628949	C	T	C66628949T	KCTD7	NM_153033.4(KCTD7):c.-116C>T	noncoding	Benign/Likely_benign
7	66633322	A	G	A66633322G	KCTD7	NM_153033.4(KCTD7):c.192A>G:p.Thr64=	coding	Benign/Likely_benign
7	66633397	G	A	G66633397A	KCTD7	NM_153033.4(KCTD7):c.267G>A:p.Thr89=	coding	Benign
7	66633425	C	T	C66633425T	KCTD7	NM_153033.4(KCTD7):c.295C>T:p.Arg99Ter	coding	Pathogenic
7	66633495	G	A	G66633495A	KCTD7	NM_153033.4(KCTD7):c.314+51G>A	noncoding	Benign
7	66638260	C	A	C66638260A	KCTD7	NM_153033.4(KCTD7):c.322C>A:p.Leu108Met	coding	Pathogenic
7	66638273	G	A	G66638273A	KCTD7	NM_153033.4(KCTD7):c.335G>A:p.Arg112His	coding	Pathogenic/Likely_pathogenic
7	66638281	G	T	G66638281T	KCTD7	NM_153033.4(KCTD7):c.343G>T:p.Asp115Tyr	coding	Pathogenic
7	66638707	G	C	G66638707C	KCTD7	NM_153033.4(KCTD7):c.494-149G>C	noncoding	Benign
7	66638869	G	C	G66638869C	KCTD7	NM_153033.4(KCTD7):c.507G>C:p.Arg169=	coding	Benign/Likely_benign
7	66638912	C	T	C66638912T	KCTD7	NM_153033.4(KCTD7):c.550C>T:p.Arg184Cys	coding	Pathogenic/Likely_pathogenic
7	66639016	C	T	C66639016T	KCTD7	NM_153033.4(KCTD7):c.654C>T:p.Asp218=	coding	Benign
7	66639180	A	T	A66639180T	KCTD7	NM_153033.4(KCTD7):c.818A>T:p.Asn273Ile	coding	Pathogenic
7	66639241	G	T	G66639241T	KCTD7	NM_153033.4(KCTD7):c.*9G>T	coding	Benign
7	66639448	A	G	A66639448G	KCTD7	NM_153033.4(KCTD7):c.*216A>G	coding	Benign
7	66639922	G	C	G66639922C	KCTD7	NM_153033.4(KCTD7):c.*690G>C	coding	Benign
7	66639940	C	T	C66639940T	KCTD7	NM_153033.4(KCTD7):c.*708C>T	coding	Benign
7	66640112	T	C	T66640112C	KCTD7	NM_153033.4(KCTD7):c.*880T>C	coding	Benign
7	66640176	C	G	C66640176G	KCTD7	NM_153033.4(KCTD7):c.*944C>G	coding	Benign
7	66640211	C	A	C66640211A	KCTD7	NM_153033.4(KCTD7):c.*979C>A	coding	Benign
7	66640959	G	C	G66640959C	KCTD7	NM_153033.4(KCTD7):c.*1727G>C	noncoding	Benign
7	66641158	G	A	G66641158A	KCTD7	NM_153033.4(KCTD7):c.*1926G>A	noncoding	Benign
7	66641312	A	G	A66641312G	KCTD7	NM_153033.4(KCTD7):c.*2080A>G	noncoding	Benign
7	66641888	A	G	A66641888G	KCTD7	NM_153033.4(KCTD7):c.*2656A>G	noncoding	Benign
7	66642037	C	T	C66642037T	KCTD7	NM_153033.4(KCTD7):c.*2805C>T	noncoding	Benign
7	66642265	T	C	T66642265C	KCTD7	NM_153033.4(KCTD7):c.*3033T>C	noncoding	Benign
7	66642984	C	G	C66642984G	KCTD7	NM_153033.4(KCTD7):c.*3752C>G	noncoding	Benign
7	66643193	C	T	C66643193T	KCTD7	NM_153033.4(KCTD7):c.*3961C>T	noncoding	Benign
7	66988472	G	A	G66988472A	SBDS	NM_016038.4(SBDS):c.652C>T:p.Arg218Ter	coding	Pathogenic
7	66988473	G	A	G66988473A	SBDS	NM_016038.4(SBDS):c.651C>T:p.Phe217=	coding	Benign
7	66988489	A	G	A66988489G	SBDS	NM_016038.4(SBDS):c.635T>C:p.Ile212Thr	coding	Benign/Likely_benign
7	66991136	C	G	C66991136G	SBDS	NM_016038.4(SBDS):c.624+1G>C	noncoding	Pathogenic
7	66991302	C	T	C66991302T	SBDS	NM_016038.4(SBDS):c.460-1G>A	coding	Pathogenic
7	66993299	C	G	C66993299G	SBDS	NM_016038.4(SBDS):c.377G>C:p.Arg126Thr	coding	Pathogenic
7	66994193	T	C	T66994193C	SBDS	NM_016038.4(SBDS):c.258+19A>G	noncoding	Benign
7	66994210	A	G	A66994210G	SBDS	NM_016038.4(SBDS):c.258+2T>C	noncoding	Pathogenic
7	66994211	C	G	C66994211G	SBDS	NM_016038.4(SBDS):c.258+1G>C	noncoding	Pathogenic
7	66994269	T	C	T66994269C	SBDS	NM_016038.4(SBDS):c.201A>G:p.Lys67=	coding	Benign
7	66994286	T	A	T66994286A	SBDS	NM_016038.4(SBDS):c.184A>T:p.Lys62Ter	coding	Pathogenic/Likely_pathogenic
7	66994329	G	A	G66994329A	SBDS	NM_016038.4(SBDS):c.141C>T:p.Leu47=	coding	Benign
7	66994412	C	T	C66994412T	SBDS	NM_016038.4(SBDS):c.129-71G>A	noncoding	Benign
7	66995320	T	G	T66995320G	SBDS	NM_016038.4(SBDS):c.98A>C:p.Lys33Thr	coding	Pathogenic
7	67183245	C	G	C67183245G	TYW1	NM_018264.4(TYW1):c.1809+9C>G	noncoding	Benign
7	67195255	A	G	A67195255G	TYW1	NM_018264.4(TYW1):c.1895A>G:p.His632Arg	coding	Benign
7	67751383	T	A	T67751383A	-	NC_000007.14:g.67751383T>A	noncoding	Benign
7	67763644	A	G	A67763644G	-	NC_000007.14:g.67763644A>G	noncoding	Benign
7	67768864	T	C	T67768864C	-	NC_000007.14:g.67768864T>C	noncoding	Benign
7	67770265	T	G	T67770265G	-	NC_000007.14:g.67770265T>G	noncoding	Benign
7	67770277	A	G	A67770277G	-	NC_000007.14:g.67770277A>G	noncoding	Benign
7	67771556	T	C	T67771556C	-	NC_000007.14:g.67771556T>C	noncoding	Benign
7	67772928	A	C	A67772928C	-	NC_000007.14:g.67772928A>C	noncoding	Benign
7	69899352	C	T	C69899352T	AUTS2	NM_015570.4(AUTS2):c.376C>T:p.Arg126Ter	coding	Pathogenic
7	69899361	C	G	C69899361G	AUTS2	NM_015570.4(AUTS2):c.385C>G:p.Leu129Val	coding	Benign/Likely_benign
7	70698621	G	A	G70698621A	AUTS2	NM_015570.4(AUTS2):c.742+1G>A	coding	Pathogenic
7	70762983	A	T	A70762983T	AUTS2	NM_015570.4(AUTS2):c.856A>T:p.Lys286Ter	coding	Pathogenic
7	70763028	C	T	C70763028T	AUTS2	NM_015570.4(AUTS2):c.901C>T:p.Gln301Ter	coding	Pathogenic
7	70763069	A	G	A70763069G	AUTS2	NM_015570.4(AUTS2):c.942A>G:p.Gln314=	coding	Benign
7	70763073	C	T	C70763073T	AUTS2	NM_015570.4(AUTS2):c.946C>T:p.Arg316Ter	coding	Pathogenic
7	70763103	C	T	C70763103T	AUTS2	NM_015570.4(AUTS2):c.976C>T:p.Gln326Ter	coding	Pathogenic
7	70763106	C	T	C70763106T	AUTS2	NM_015570.4(AUTS2):c.979C>T:p.Arg327Cys	coding	Benign
7	70763152	C	T	C70763152T	AUTS2	NM_015570.4(AUTS2):c.1025C>T:p.Pro342Leu	coding	Benign
7	70763189	G	A	G70763189A	AUTS2	NM_015570.4(AUTS2):c.1062G>A:p.Pro354=	coding	Benign
7	70764926	C	T	C70764926T	AUTS2	NM_015570.4(AUTS2):c.1389C>T:p.Pro463=	coding	Benign
7	70765001	C	T	C70765001T	AUTS2	NM_015570.4(AUTS2):c.1464C>T:p.Tyr488=	coding	Benign
7	70766196	G	A	G70766196A	AUTS2	NM_015570.4(AUTS2):c.1551G>A:p.Pro517=	coding	Benign
7	70766211	C	T	C70766211T	AUTS2	NM_015570.4(AUTS2):c.1566C>T:p.Thr522=	coding	Benign
7	70766227	C	T	C70766227T	AUTS2	NM_015570.4(AUTS2):c.1582C>T:p.Gln528Ter	coding	Pathogenic
7	70766277	G	A	G70766277A	AUTS2	NM_015570.4(AUTS2):c.1632G>A:p.Thr544=	coding	Benign
7	70766304	C	T	C70766304T	AUTS2	NM_015570.4(AUTS2):c.1659C>T:p.Thr553=	coding	Benign
7	70771588	C	G	C70771588G	AUTS2	NM_015570.4(AUTS2):c.1774C>G:p.Pro592Ala	coding	Benign/Likely_benign
7	70771641	G	A	G70771641A	AUTS2	NM_015570.4(AUTS2):c.1827G>A:p.Pro609=	coding	Benign
7	70777144	G	A	G70777144A	AUTS2	NM_015570.4(AUTS2):c.1974G>A:p.Trp658Ter	coding	Pathogenic
7	70781665	G	A	G70781665A	AUTS2	NM_015570.4(AUTS2):c.2055G>A:p.Glu685=	coding	Benign
7	70785971	G	A	G70785971A	AUTS2	NM_015570.4(AUTS2):c.2241G>A:p.Pro747=	coding	Benign
7	70787297	G	A	G70787297A	AUTS2	NM_015570.4(AUTS2):c.2397G>A:p.Thr799=	coding	Benign
7	70789754	C	T	C70789754T	AUTS2	NM_015570.4(AUTS2):c.2538C>T:p.Ser846=	coding	Benign
7	70789802	G	A	G70789802A	AUTS2	NM_015570.4(AUTS2):c.2586G>A:p.Pro862=	coding	Benign
7	70789880	C	T	C70789880T	AUTS2	NM_015570.4(AUTS2):c.2664C>T:p.Asp888=	coding	Benign
7	70790000	C	T	C70790000T	AUTS2	NM_015570.4(AUTS2):c.2784C>T:p.Ala928=	coding	Benign
7	70790036	G	C	G70790036C	AUTS2	NM_015570.4(AUTS2):c.2820G>C:p.Pro940=	coding	Benign
7	70790231	G	A	G70790231A	AUTS2	NM_015570.4(AUTS2):c.3015G>A:p.Pro1005=	coding	Benign
7	70790402	G	A	G70790402A	AUTS2	NM_015570.4(AUTS2):c.3186G>A:p.Pro1062=	coding	Benign
7	70790764	G	A	G70790764A	AUTS2	NM_015570.4(AUTS2):c.3548G>A:p.Ser1183Asn	coding	Benign
7	70790771	C	G	C70790771G	AUTS2	NM_015570.4(AUTS2):c.3555C>G:p.Ile1185Met	coding	Benign
7	70790849	C	G	C70790849G	AUTS2	NM_015570.4(AUTS2):c.3633C>G:p.Thr1211=	coding	Benign
7	70790906	C	G	C70790906G	AUTS2	NM_015570.4(AUTS2):c.3690C>G:p.Arg1230=	coding	Benign
7	70790970	A	G	A70790970G	AUTS2	NM_015570.4(AUTS2):c.3754A>G:p.Thr1252Ala	coding	Benign
7	71388410	G	A	G71388410A	GALNT17	NM_022479.3(GALNT17):c.589+9G>A	noncoding	Benign
7	71665590	G	A	G71665590A	GALNT17	NM_022479.3(GALNT17):c.1260G>A:p.Pro420=	coding	Benign
7	71810328	G	T	G71810328T	CALN1	NM_031468.4(CALN1):c.658+8C>A	noncoding	Benign
7	72106206	C	T	C72106206T	CALN1	NM_031468.4(CALN1):c.333G>A:p.Gly111=	coding	Benign
7	72939329	C	G	C72939329G	POM121	NM_001257190.3(POM121):c.573-7C>G	noncoding	Benign
7	72942704	A	C	A72942704C	POM121	NM_001257190.3(POM121):c.1916A>C:p.His639Pro	coding	Benign
7	72942904	G	A	G72942904A	POM121	NM_001257190.3(POM121):c.2116G>A:p.Ala706Thr	coding	Benign
7	72945599	C	A	C72945599A	POM121	NM_001257190.3(POM121):c.2748C>A:p.Pro916=	coding	Benign
7	72948322	C	T	C72948322T	POM121	NM_001257190.3(POM121):c.2858-6C>T	coding	Benign
7	72948424	T	C	T72948424C	POM121	NM_001257190.3(POM121):c.2954T>C:p.Leu985Pro	coding	Benign
7	72948430	G	A	G72948430A	POM121	NM_001257190.3(POM121):c.2960G>A:p.Arg987Gln	coding	Benign
7	72948469	G	C	G72948469C	POM121	NM_001257190.3(POM121):c.2999G>C:p.Ter1000Ser	coding	Benign
7	73324425	C	T	C73324425T	TRIM50	NM_178125.3(TRIM50):c.363G>A:p.Pro121=	coding	Benign
7	73442304	T	C	T73442304C	BAZ1B	NM_032408.4(BAZ1B):c.4344A>G:p.Pro1448=	coding	Benign
7	73442346	C	T	C73442346T	BAZ1B	NM_032408.4(BAZ1B):c.4302G>A:p.Gln1434=	coding	Benign
7	73459542	T	C	T73459542C	BAZ1B	NM_032408.4(BAZ1B):c.3426A>G:p.Glu1142=	coding	Benign
7	73469568	G	A	G73469568A	BAZ1B	NM_032408.4(BAZ1B):c.2815C>T:p.His939Tyr	coding	Benign
7	73477238	C	T	C73477238T	BAZ1B	NM_032408.4(BAZ1B):c.2223G>A:p.Thr741=	coding	Benign
7	73477259	G	A	G73477259A	BAZ1B	NM_032408.4(BAZ1B):c.2202C>T:p.Thr734=	coding	Benign
7	73477469	T	C	T73477469C	BAZ1B	NM_032408.4(BAZ1B):c.1992A>G:p.Gln664=	coding	Benign
7	73478096	C	A	C73478096A	BAZ1B	NM_032408.4(BAZ1B):c.1365G>T:p.Arg455=	coding	Benign
7	73570855	G	A	G73570855A	TBL2	NM_012453.4(TBL2):c.996C>T:p.Ala332=	coding	Benign
7	73571297	T	G	T73571297G	TBL2	NM_012453.4(TBL2):c.770A>C:p.Glu257Ala	coding	Benign
7	73572882	C	T	C73572882T	TBL2	NM_012453.4(TBL2):c.687G>A:p.Gln229=	coding	Benign
7	73573351	C	T	C73573351T	TBL2	NM_012453.4(TBL2):c.567G>A:p.Ala189=	coding	Benign
7	73573979	C	T	C73573979T	TBL2	NM_012453.4(TBL2):c.405G>A:p.Glu135=	coding	Benign
7	73593934	G	A	G73593934A	MLXIPL	NM_032951.3(MLXIPL):c.2490C>T:p.Thr830=	coding	Benign
7	73595675	C	T	C73595675T	MLXIPL	NM_032951.3(MLXIPL):c.2272G>A:p.Val758Ile	coding	Benign
7	73595904	C	T	C73595904T	MLXIPL	NM_032951.3(MLXIPL):c.2124G>A:p.Ala708=	coding	Benign
7	73596746	G	T	G73596746T	MLXIPL	NM_032951.3(MLXIPL):c.1715C>A:p.Thr572Asn	coding	Benign
7	73596855	G	A	G73596855A	MLXIPL	NM_032951.3(MLXIPL):c.1671+10C>T	noncoding	Benign
7	73597222	C	T	C73597222T	MLXIPL	NM_032951.3(MLXIPL):c.1563G>A:p.Ala521=	coding	Benign
7	73597231	G	C	G73597231C	MLXIPL	NM_032951.3(MLXIPL):c.1554C>G:p.Pro518=	coding	Benign
7	73597248	C	T	C73597248T	MLXIPL	NM_032951.3(MLXIPL):c.1537G>A:p.Ala513Thr	coding	Benign
7	73597302	G	A	G73597302A	MLXIPL	NM_032951.3(MLXIPL):c.1483C>T:p.Pro495Ser	coding	Benign
7	73597318	G	T	G73597318T	MLXIPL	NM_032951.3(MLXIPL):c.1467C>A:p.Ser489=	coding	Benign
7	73597413	T	G	T73597413G	MLXIPL	NM_032951.3(MLXIPL):c.1372A>C:p.Thr458Pro	coding	Benign
7	73597587	G	C	G73597587C	MLXIPL	NM_032951.3(MLXIPL):c.1198C>G:p.Pro400Ala	coding	Benign
7	73597689	A	G	A73597689G	MLXIPL	NM_032951.3(MLXIPL):c.1096T>C:p.Leu366=	coding	Benign
7	73597690	G	T	G73597690T	MLXIPL	NM_032951.3(MLXIPL):c.1095C>A:p.Pro365=	coding	Benign
7	73605715	T	G	T73605715G	MLXIPL	NM_032951.3(MLXIPL):c.874A>C:p.Ser292Arg	coding	Benign
7	73605998	G	T	G73605998T	MLXIPL	NM_032951.3(MLXIPL):c.732C>A:p.Asp244Glu	coding	Benign
7	73606110	G	A	G73606110A	MLXIPL	NM_032951.3(MLXIPL):c.620C>T:p.Ala207Val	coding	Benign
7	73606998	T	C	T73606998C	MLXIPL	NM_032951.3(MLXIPL):c.594A>G:p.Glu198=	coding	Benign
7	73607323	C	G	C73607323G	MLXIPL	NM_032951.3(MLXIPL):c.573+8G>C	noncoding	Benign
7	73607324	C	T	C73607324T	MLXIPL	NM_032951.3(MLXIPL):c.573+7G>A	noncoding	Benign
7	73607582	C	T	C73607582T	MLXIPL	NM_032951.3(MLXIPL):c.483+8G>A	noncoding	Benign
7	73607629	G	C	G73607629C	MLXIPL	NM_032951.3(MLXIPL):c.444C>G:p.Pro148=	coding	Benign
7	73624194	C	T	C73624194T	MLXIPL	NM_032951.3(MLXIPL):c.293+6G>A	noncoding	Benign
7	73624471	G	A	G73624471A	MLXIPL	NM_032951.3(MLXIPL):c.22C>T:p.Leu8=	coding	Benign
7	73683272	T	C	T73683272C	DNAJC30	NM_032317.3(DNAJC30):c.152A>G:p.Tyr51Cys	coding	Pathogenic
7	73693403	C	T	C73693403T	BUD23	NM_017528.5(BUD23):c.585C>T:p.Ala195=	coding	Benign
7	74028150	C	T	C74028150T	ELN	NM_001278918.1(ELN):c.-38C>T	noncoding	Benign
7	74028189	T	C	T74028189C	ELN	NM_000501.4(ELN):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
7	74036545	C	G	C74036545G	ELN	NM_000501.4(ELN):c.134-10C>G	noncoding	Benign/Likely_benign
7	74036586	T	C	T74036586C	ELN	NM_000501.4(ELN):c.163+2T>C	noncoding	Pathogenic
7	74037933	G	A	G74037933A	ELN	NM_000501.4(ELN):c.196+194G>A	noncoding	Benign
7	74040946	T	C	T74040946C	ELN	NM_000501.4(ELN):c.197-270T>C	noncoding	Benign
7	74041054	G	A	G74041054A	ELN	NM_000501.4(ELN):c.197-162G>A	noncoding	Benign
7	74041231	C	T	C74041231T	ELN	NM_000501.4(ELN):c.212C>T:p.Ala71Val	coding	Benign/Likely_benign
7	74042520	G	A	G74042520A	ELN	NM_000501.4(ELN):c.233-94G>A	noncoding	Benign
7	74042630	C	T	C74042630T	ELN	NM_000501.4(ELN):c.249C>T:p.Pro83=	coding	Benign/Likely_benign
7	74042640	T	C	T74042640C	ELN	NM_000501.4(ELN):c.259T>C:p.Phe87Leu	coding	Benign/Likely_benign
7	74042659	C	T	C74042659T	ELN	NM_000501.4(ELN):c.278C>T:p.Pro93Leu	coding	Benign
7	74042925	G	A	G74042925A	ELN	NM_000501.4(ELN):c.326-59G>A	noncoding	Benign
7	74043024	A	G	A74043024G	ELN	NM_000501.4(ELN):c.366A>G:p.Gly122=	coding	Benign/Likely_benign
7	74043132	C	T	C74043132T	ELN	NM_000501.4(ELN):c.391C>T:p.Gln131Ter	coding	Pathogenic
7	74043176	C	T	C74043176T	ELN	NM_000501.4(ELN):c.427+8C>T	noncoding	Benign/Likely_benign
7	74043901	C	A	C74043901A	ELN	NM_000501.4(ELN):c.450C>A:p.Tyr150Ter	coding	Pathogenic
7	74043901	C	G	C74043901G	ELN	NM_000501.4(ELN):c.450C>G:p.Tyr150Ter	coding	Pathogenic
7	74045217	G	A	G74045217A	ELN	NM_000501.4(ELN):c.470-5G>A	noncoding	Benign
7	74045245	G	T	G74045245T	ELN	NM_000501.4(ELN):c.493G>T:p.Val165Leu	coding	Benign
7	74045278	A	T	A74045278T	ELN	NM_000501.4(ELN):c.526A>T:p.Lys176Ter	coding	Pathogenic
7	74046755	C	T	C74046755T	ELN	NM_000501.4(ELN):c.631C>T:p.Pro211Ser	coding	Pathogenic
7	74046758	A	T	A74046758T	ELN	NM_000501.4(ELN):c.634A>T:p.Lys212Ter	coding	Pathogenic
7	74048146	T	A	T74048146A	ELN	NM_000501.4(ELN):c.690T>A:p.Tyr230Ter	coding	Pathogenic
7	74051747	C	G	C74051747G	ELN	NM_000501.4(ELN):c.800-3C>G	noncoding	Pathogenic
7	74051748	A	G	A74051748G	ELN	NM_000501.4(ELN):c.800-2A>G	noncoding	Pathogenic
7	74051836	G	A	G74051836A	ELN	NM_000501.4(ELN):c.886G>A:p.Ala296Thr	coding	Benign
7	74051841	T	C	T74051841C	ELN	NM_000501.4(ELN):c.889+2T>C	noncoding	Pathogenic
7	74051922	A	G	A74051922G	ELN	NM_000501.4(ELN):c.890-2A>G	noncoding	Pathogenic
7	74051926	G	A	G74051926A	ELN	NM_000501.4(ELN):c.892G>A:p.Val298Ile	coding	Benign
7	74051955	A	G	A74051955G	ELN	NM_000501.4(ELN):c.921A>G:p.Ala307=	coding	Benign
7	74051958	A	T	A74051958T	ELN	NM_000501.4(ELN):c.924A>T:p.Ala308=	coding	Benign
7	74051965	G	A	G74051965A	ELN	NM_000501.4(ELN):c.931G>A:p.Ala311Thr	coding	Benign
7	74051978	A	G	A74051978G	ELN	NM_000501.4(ELN):c.944A>G:p.Lys315Arg	coding	Pathogenic
7	74054715	G	A	G74054715A	ELN	NM_000501.4(ELN):c.1097-1G>A	noncoding	Pathogenic
7	74054768	C	A	C74054768A	ELN	NM_000501.4(ELN):c.1149C>A:p.Tyr383Ter	coding	Pathogenic
7	74054770	G	A	G74054770A	ELN	NM_000501.4(ELN):c.1150+1G>A	coding	Pathogenic/Likely_pathogenic
7	74056352	T	G	T74056352G	ELN	NM_000501.4(ELN):c.1232T>G:p.Val411Gly	coding	Benign
7	74056354	G	A	G74056354A	ELN	NM_000501.4(ELN):c.1234G>A:p.Gly412Arg	coding	Benign/Likely_benign
7	74056384	G	A	G74056384A	ELN	NM_000501.4(ELN):c.1264G>A:p.Gly422Ser	coding	Benign
7	74056389	C	T	C74056389T	ELN	NM_000501.4(ELN):c.1269C>T:p.Val423=	coding	Benign
7	74056391	G	A	G74056391A	ELN	NM_000501.4(ELN):c.1271G>A:p.Gly424Glu	coding	Benign
7	74056399	C	G	C74056399G	ELN	NM_000501.4(ELN):c.1279C>G:p.Pro427Ala	coding	Benign/Likely_benign
7	74056402	G	T	G74056402T	ELN	NM_000501.4(ELN):c.1282G>T:p.Gly428Ter	coding	Pathogenic
7	74056452	C	T	C74056452T	ELN	NM_000501.4(ELN):c.1315+17C>T	noncoding	Benign
7	74056673	C	T	C74056673T	ELN	NM_000501.4(ELN):c.1317C>T:p.Pro439=	coding	Benign/Likely_benign
7	74056680	C	T	C74056680T	ELN	NM_000501.4(ELN):c.1324C>T:p.Gln442Ter	coding	Pathogenic
7	74056694	C	T	C74056694T	ELN	NM_000501.4(ELN):c.1338C>T:p.Ala446=	coding	Benign/Likely_benign
7	74057372	A	G	A74057372G	ELN	NM_000501.4(ELN):c.1358-268A>G	noncoding	Benign/Likely_benign
7	74057670	A	G	A74057670G	ELN	NM_000501.4(ELN):c.1388A>G:p.Lys463Arg	coding	Benign
7	74057716	G	A	G74057716A	ELN	NM_000501.4(ELN):c.1414+20G>A	noncoding	Benign
7	74057876	A	G	A74057876G	ELN	NM_000501.4(ELN):c.1414+180A>G	noncoding	Benign
7	74059938	C	T	C74059938T	ELN	NM_000501.4(ELN):c.1467C>T:p.Val489=	coding	Benign/Likely_benign
7	74059978	G	A	G74059978A	ELN	NM_000501.4(ELN):c.1507G>A:p.Val503Met	coding	Benign/Likely_benign
7	74060037	T	A	T74060037A	ELN	NM_000501.4(ELN):c.1566T>A:p.Gly522=	coding	Benign/Likely_benign
7	74060184	C	T	C74060184T	ELN	NM_000501.4(ELN):c.1621C>T:p.Arg541Ter	coding	Pathogenic
7	74060394	G	A	G74060394A	ELN	NM_000501.4(ELN):c.1640G>A:p.Gly547Asp	coding	Benign/Likely_benign
7	74060428	C	T	C74060428T	ELN	NM_000501.4(ELN):c.1674C>T:p.Gly558=	coding	Benign/Likely_benign
7	74060495	G	C	G74060495C	ELN	NM_000501.4(ELN):c.1741G>C:p.Gly581Arg	coding	Benign
7	74060583	C	A	C74060583A	ELN	NM_000501.4(ELN):c.1747+82C>A	coding	Benign/Likely_benign
7	74060584	C	T	C74060584T	ELN	NM_000501.4(ELN):c.1747+83C>T	coding	Benign
7	74061138	T	A	T74061138A	ELN	NM_000501.4(ELN):c.1785T>A:p.Tyr595Ter	coding	Pathogenic
7	74063185	G	C	G74063185C	ELN	NM_000501.4(ELN):c.1819G>C:p.Gly607Arg	coding	Benign/Likely_benign
7	74063187	G	C	G74063187C	ELN	NM_000501.4(ELN):c.1821G>C:p.Gly607=	coding	Benign
7	74063194	G	A	G74063194A	ELN	NM_000501.4(ELN):c.1828G>A:p.Gly610Ser	coding	Benign/Likely_benign
7	74063224	G	T	G74063224T	ELN	NM_000501.4(ELN):c.1858G>T:p.Gly620Ter	coding	Pathogenic/Likely_pathogenic
7	74063229	G	C	G74063229C	ELN	NM_000501.4(ELN):c.1858+5G>C	noncoding	Pathogenic
7	74063370	G	A	G74063370A	ELN	NM_000501.4(ELN):c.1918+1G>A	coding	Pathogenic
7	74065687	T	G	T74065687G	ELN	NM_000501.4(ELN):c.1994-7T>G	noncoding	Benign/Likely_benign
7	74065928	A	G	A74065928G	ELN	NM_000501.4(ELN):c.2033-16A>G	noncoding	Benign
7	74066002	G	C	G74066002C	ELN	NM_000501.4(ELN):c.2086+5G>C	noncoding	Benign
7	74066475	G	A	G74066475A	ELN	NM_000501.4(ELN):c.2087-257G>A	noncoding	Benign
7	74068371	A	G	A74068371G	ELN	NM_000501.4(ELN):c.2132-286A>G	noncoding	Benign
7	74068652	T	A	T74068652A	ELN	NM_000501.4(ELN):c.2132-5T>A	noncoding	Benign/Likely_benign
7	74068657	G	A	G74068657A	ELN	NM_000501.4(ELN):c.2132G>A:p.Gly711Asp	coding	Benign/Likely_benign
7	74068872	G	A	G74068872A	ELN	NM_000501.4(ELN):c.*172G>A	noncoding	Benign
7	74069083	T	G	T74069083G	ELN	NM_000501.4(ELN):c.*383T>G	noncoding	Benign
7	74069248	G	A	G74069248A	ELN	NM_000501.4(ELN):c.*548G>A	noncoding	Benign
7	74069262	A	C	A74069262C	ELN	NM_000501.4(ELN):c.*562A>C	noncoding	Benign
7	74069336	G	A	G74069336A	ELN	NM_000501.4(ELN):c.*636G>A	noncoding	Benign
7	74069359	G	C	G74069359C	ELN	NM_000501.4(ELN):c.*659G>C	noncoding	Benign
7	74069894	A	G	A74069894G	ELN	NM_000501.4(ELN):c.*1194A>G	noncoding	Benign
7	74069895	C	T	C74069895T	ELN	NM_000501.4(ELN):c.*1195C>T	noncoding	Benign
7	74085752	C	T	C74085752T	LIMK1	NM_002314.4(LIMK1):c.60C>T:p.Ser20=	coding	Benign
7	74096666	A	C	A74096666C	LIMK1	NM_002314.4(LIMK1):c.197A>C:p.Lys66Thr	coding	Benign
7	74097072	C	G	C74097072G	LIMK1	NM_002314.4(LIMK1):c.292-8C>G	noncoding	Benign
7	74099199	G	C	G74099199C	LIMK1	NM_002314.4(LIMK1):c.569G>C:p.Gly190Ala	coding	Benign
7	74099248	C	T	C74099248T	LIMK1	NM_002314.4(LIMK1):c.608+10C>T	noncoding	Benign
7	74105869	C	A	C74105869A	LIMK1	NM_002314.4(LIMK1):c.609-6C>A	noncoding	Benign
7	74106139	C	G	C74106139G	LIMK1	NM_002314.4(LIMK1):c.777C>G:p.His259Gln	coding	Benign
7	74107885	G	A	G74107885A	LIMK1	NM_002314.4(LIMK1):c.1080G>A:p.Glu360=	coding	Benign
7	74109017	G	A	G74109017A	LIMK1	NM_002314.4(LIMK1):c.1265G>A:p.Arg422Gln	coding	Benign
7	74111995	C	T	C74111995T	LIMK1	NM_002314.4(LIMK1):c.1407C>T:p.Arg469=	coding	Benign
7	74120626	C	T	C74120626T	LIMK1	NM_002314.4(LIMK1):c.1611C>T:p.Ile537=	coding	Benign
7	74121193	C	A	C74121193A	LIMK1	NM_002314.4(LIMK1):c.1836C>A:p.Ala612=	coding	Benign
7	74238915	G	A	G74238915A	RFC2	NM_181471.3(RFC2):c.759+8C>T	noncoding	Benign
7	74240012	C	T	C74240012T	RFC2	NM_181471.3(RFC2):c.619G>A:p.Glu207Lys	coding	Benign
7	74240030	T	G	T74240030G	RFC2	NM_181471.3(RFC2):c.601A>C:p.Arg201=	coding	Benign
7	74246709	A	T	A74246709T	RFC2	NM_181471.3(RFC2):c.387T>A:p.Thr129=	coding	Benign
7	74249784	C	T	C74249784T	RFC2	NM_181471.3(RFC2):c.184-4G>A	noncoding	Benign
7	74254285	G	A	G74254285A	RFC2	NM_181471.3(RFC2):c.99C>T:p.His33=	coding	Benign
7	74254369	G	T	G74254369T	RFC2	NM_181471.3(RFC2):c.15C>A:p.Ala5=	coding	Benign
7	74338482	C	T	C74338482T	CLIP2	NM_003388.5(CLIP2):c.156C>T:p.Ser52=	coding	Benign
7	74338695	G	A	G74338695A	CLIP2	NM_003388.5(CLIP2):c.369G>A:p.Ala123=	coding	Benign
7	74338803	C	T	C74338803T	CLIP2	NM_003388.5(CLIP2):c.477C>T:p.His159=	coding	Benign
7	74338831	C	T	C74338831T	CLIP2	NM_003388.5(CLIP2):c.505C>T:p.Leu169=	coding	Benign
7	74338861	C	T	C74338861T	CLIP2	NM_003388.5(CLIP2):c.535C>T:p.Pro179Ser	coding	Benign
7	74338941	C	T	C74338941T	CLIP2	NM_003388.5(CLIP2):c.615C>T:p.Asn205=	coding	Benign
7	74357450	T	C	T74357450C	CLIP2	NM_003388.5(CLIP2):c.1188T>C:p.Ile396=	coding	Benign
7	74375941	C	T	C74375941T	CLIP2	NM_003388.5(CLIP2):c.1540C>T:p.Leu514=	coding	Benign
7	74376477	C	G	C74376477G	CLIP2	NM_003388.5(CLIP2):c.2076C>G:p.Ala692=	coding	Benign
7	74376618	C	T	C74376618T	CLIP2	NM_003388.5(CLIP2):c.2217C>T:p.Asp739=	coding	Benign
7	74376703	C	T	C74376703T	CLIP2	NM_003388.5(CLIP2):c.2302C>T:p.Arg768Trp	coding	Benign
7	74397083	C	T	C74397083T	CLIP2	NM_003388.5(CLIP2):c.2730C>T:p.Asn910=	coding	Benign
7	74397149	T	C	T74397149C	CLIP2	NM_003388.5(CLIP2):c.2796T>C:p.Arg932=	coding	Benign
7	74518158	C	G	C74518158G	GTF2IRD1	NM_005685.4(GTF2IRD1):c.441C>G:p.Ala147=	coding	Benign
7	74518167	G	A	G74518167A	GTF2IRD1	NM_005685.4(GTF2IRD1):c.450G>A:p.Val150=	coding	Benign
7	74519544	C	T	C74519544T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.741C>T:p.Thr247=	coding	Benign
7	74519691	C	T	C74519691T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.888C>T:p.Thr296=	coding	Benign
7	74521257	C	T	C74521257T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.966C>T:p.Ala322=	coding	Benign
7	74538687	C	T	C74538687T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1455C>T:p.Ser485=	coding	Benign
7	74544776	C	T	C74544776T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1640C>T:p.Ala547Val	coding	Benign
7	74544795	C	T	C74544795T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1659C>T:p.Pro553=	coding	Benign
7	74555232	C	T	C74555232T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1966+9C>T	noncoding	Benign
7	74555233	G	A	G74555233A	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1966+10G>A	noncoding	Benign
7	74555466	C	T	C74555466T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1995C>T:p.Asp665=	coding	Benign
7	74558892	G	A	G74558892A	GTF2IRD1	NM_005685.4(GTF2IRD1):c.2139G>A:p.Gln713=	coding	Benign
7	74777318	C	T	C74777318T	NCF1	NM_000265.6(NCF1):c.124C>T:p.Arg42Trp	coding	Pathogenic
7	74777319	G	A	G74777319A	NCF1	NM_000265.6(NCF1):c.125G>A:p.Arg42Gln	coding	Pathogenic
7	74779298	C	T	C74779298T	NCF1	NM_000265.6(NCF1):c.271C>T:p.Gln91Ter	coding	Pathogenic
7	74779360	T	A	T74779360A	NCF1	NM_000265.6(NCF1):c.333T>A:p.Cys111Ter	coding	Pathogenic
7	74783061	G	A	G74783061A	NCF1	NM_000265.6(NCF1):c.574G>A:p.Gly192Ser	coding	Pathogenic
7	74783529	G	A	G74783529A	NCF1	NM_000265.6(NCF1):c.579G>A:p.Trp193Ter	coding	Pathogenic
7	74789339	G	A	G74789339A	NCF1	NM_000265.6(NCF1):c.*179G>A	noncoding	Pathogenic
7	74824988	T	C	T74824988C	GTF2IRD2	NM_173537.4(GTF2IRD2):c.303A>G:p.Ser101=	coding	Benign
7	75056083	C	A	C75056083A	RCC1L	NM_030798.5(RCC1L):c.1058-9G>T	noncoding	Benign
7	75424148	T	G	T75424148G	POM121C	NM_001099415.3(POM121C):c.949A>C:p.Thr317Pro	coding	Benign
7	75426451	C	G	C75426451G	POM121C	NM_001099415.3(POM121C):c.483G>C:p.Leu161=	coding	Benign
7	75542934	T	C	T75542934C	HIP1	NM_005338.7(HIP1):c.2807A>G:p.Gln936Arg	coding	Benign
7	75547751	C	T	C75547751T	HIP1	NM_005338.7(HIP1):c.2465+4G>A	noncoding	Benign
7	75553503	C	T	C75553503T	HIP1	NM_005338.7(HIP1):c.2245G>A:p.Asp749Asn	coding	Benign
7	75557659	G	A	G75557659A	HIP1	NM_005338.7(HIP1):c.1576C>T:p.Arg526Trp	coding	Benign
7	75557705	T	C	T75557705C	HIP1	NM_005338.7(HIP1):c.1530A>G:p.Lys510=	coding	Benign
7	75557712	C	T	C75557712T	HIP1	NM_005338.7(HIP1):c.1523G>A:p.Arg508Gln	coding	Benign
7	75558172	G	T	G75558172T	HIP1	NM_005338.7(HIP1):c.1459C>A:p.Arg487=	coding	Benign
7	75568214	A	T	A75568214T	HIP1	NM_005338.7(HIP1):c.788T>A:p.Met263Lys	coding	Benign
7	75573910	T	C	T75573910C	HIP1	NM_005338.7(HIP1):c.605-9A>G	noncoding	Benign
7	75582077	G	A	G75582077A	HIP1	NM_005338.7(HIP1):c.540C>T:p.Asn180=	coding	Benign
7	75592375	C	T	C75592375T	HIP1	NM_005338.7(HIP1):c.324G>A:p.Pro108=	coding	Benign
7	75738817	C	G	C75738817G	HIP1	NM_005338.7(HIP1):c.104G>C:p.Ser35Thr	coding	Benign
7	75915137	A	C	A75915137C	POR	NM_000941.2(POR):c.-47A>C	noncoding	Benign
7	75954007	A	G	A75954007G	POR	NM_000941.3(POR):c.15A>G:p.Gly5=	coding	Benign
7	75980359	A	G	A75980359G	POR	NM_000941.3(POR):c.387A>G:p.Pro129=	coding	Benign
7	75981072	T	G	T75981072G	POR	NM_000941.3(POR):c.541T>G:p.Tyr181Asp	coding	Pathogenic
7	75981559	G	A	G75981559A	POR	NM_000941.3(POR):c.684G>A:p.Pro228=	coding	Benign
7	75981607	G	A	G75981607A	POR	NM_000941.3(POR):c.731+1G>A	coding	Pathogenic
7	75983548	G	C	G75983548C	POR	NM_000941.3(POR):c.859G>C:p.Ala287Pro	coding	Pathogenic
7	75983559	C	T	C75983559T	POR	NM_000941.3(POR):c.870C>T:p.Thr290=	coding	Benign
7	75983843	G	A	G75983843A	POR	NM_000941.3(POR):c.1053G>A:p.Leu351=	coding	Benign
7	75984764	C	G	C75984764G	POR	NM_000941.3(POR):c.1067-13C>G	noncoding	Benign
7	75984946	C	T	C75984946T	POR	NM_000941.3(POR):c.1236C>T:p.Ser412=	coding	Benign/Likely_benign
7	75984970	C	T	C75984970T	POR	NM_000941.3(POR):c.1248+12C>T	noncoding	Benign
7	75984978	G	A	G75984978A	POR	NM_000941.3(POR):c.1248+20G>A	noncoding	Benign
7	75985179	G	A	G75985179A	POR	NM_000941.3(POR):c.1370G>A:p.Arg457His	coding	Pathogenic/Likely_pathogenic
7	75985623	C	A	C75985623A	POR	NM_000941.3(POR):c.1443C>A:p.Tyr481Ter	coding	Pathogenic
7	75985635	T	C	T75985635C	POR	NM_000941.3(POR):c.1455T>C:p.Ala485=	coding	Benign
7	75985655	T	A	T75985655A	POR	NM_000941.3(POR):c.1475T>A:p.Val492Glu	coding	Pathogenic
7	75985688	C	T	C75985688T	POR	NM_000941.3(POR):c.1508C>T:p.Ala503Val	coding	Benign
7	75985698	C	T	C75985698T	POR	NM_000941.3(POR):c.1518C>T:p.Asn506=	coding	Benign/Likely_benign
7	75985795	G	A	G75985795A	POR	NM_000941.3(POR):c.1615G>A:p.Gly539Arg	coding	Pathogenic
7	75985959	G	A	G75985959A	POR	NM_000941.3(POR):c.1706G>A:p.Cys569Tyr	coding	Pathogenic
7	75985969	G	A	G75985969A	POR	NM_000941.3(POR):c.1716G>A:p.Ser572=	coding	Benign
7	75985986	A	G	A75985986G	POR	NM_000941.3(POR):c.1733A>G:p.Tyr578Cys	coding	Pathogenic
7	75986165	G	T	G75986165T	POR	NM_000941.3(POR):c.1822G>T:p.Val608Phe	coding	Pathogenic
7	75986787	G	A	G75986787A	POR	NM_000941.3(POR):c.*306G>A	noncoding	Benign
7	76048186	C	T	C76048186T	MDH2	NM_005918.4(MDH2):c.26C>T:p.Ala9Val	coding	Benign
7	76054872	G	A	G76054872A	MDH2	NM_005918.4(MDH2):c.109G>A:p.Gly37Arg	coding	Pathogenic
7	76054901	C	T	C76054901T	MDH2	NM_005918.4(MDH2):c.138C>T:p.Asn46=	coding	Benign
7	76054955	G	A	G76054955A	MDH2	NM_005918.4(MDH2):c.192G>A:p.Val64=	coding	Benign
7	76057474	T	G	T76057474G	MDH2	NM_005918.4(MDH2):c.300T>G:p.Ala100=	coding	Benign
7	76058047	C	T	C76058047T	MDH2	NM_005918.4(MDH2):c.398C>T:p.Pro133Leu	coding	Pathogenic
7	76058048	G	T	G76058048T	MDH2	NM_005918.4(MDH2):c.399G>T:p.Pro133=	coding	Benign
7	76058064	G	A	G76058064A	MDH2	NM_005918.4(MDH2):c.415G>A:p.Val139Ile	coding	Benign
7	76060423	G	A	G76060423A	MDH2	NM_005918.4(MDH2):c.480G>A:p.Val160=	coding	Benign
7	76060486	T	G	T76060486G	MDH2	NM_005918.4(MDH2):c.543T>G:p.Val181=	coding	Benign
7	76060498	G	A	G76060498A	MDH2	NM_005918.4(MDH2):c.555G>A:p.Lys185=	coding	Benign
7	76060506	C	T	C76060506T	MDH2	NM_005918.4(MDH2):c.555+8C>T	noncoding	Benign/Likely_benign
7	76063579	C	T	C76063579T	MDH2	NM_005918.4(MDH2):c.620C>T:p.Pro207Leu	coding	Pathogenic
7	76063601	A	C	A76063601C	MDH2	NM_005918.4(MDH2):c.633+9A>C	noncoding	Benign
7	76066375	A	C	A76066375C	MDH2	NM_005918.4(MDH2):c.982A>C:p.Lys328Gln	coding	Benign
7	76066392	C	T	C76066392T	MDH2	NM_005918.4(MDH2):c.999C>T:p.Phe333=	coding	Benign/Likely_benign
7	76302657	C	T	C76302657T	HSPB1	NC_000007.14:g.76302657C>T	noncoding	Benign
7	76302667	C	T	C76302667T	HSPB1	NM_001540.4(HSPB1):c.-46C>T	noncoding	Benign
7	76302694	C	T	C76302694T	HSPB1	NM_001540.5(HSPB1):c.-19C>T	noncoding	Benign/Likely_benign
7	76302721	G	A	G76302721A	HSPB1	NM_001540.5(HSPB1):c.9G>A:p.Glu3=	coding	Benign/Likely_benign
7	76302736	C	T	C76302736T	HSPB1	NM_001540.5(HSPB1):c.24C>T:p.Phe8=	coding	Benign/Likely_benign
7	76302748	G	T	G76302748T	HSPB1	NM_001540.5(HSPB1):c.36G>T:p.Arg12=	coding	Benign/Likely_benign
7	76302820	C	G	C76302820G	HSPB1	NM_001540.5(HSPB1):c.108C>G:p.Pro36=	coding	Benign/Likely_benign
7	76302828	C	T	C76302828T	HSPB1	NM_001540.5(HSPB1):c.116C>T:p.Pro39Leu	coding	Pathogenic
7	76302838	G	A	G76302838A	HSPB1	NM_001540.5(HSPB1):c.126G>A:p.Trp42Ter	coding	Pathogenic
7	76302865	G	A	G76302865A	HSPB1	NM_001540.5(HSPB1):c.153G>A:p.Trp51Ter	coding	Pathogenic
7	76302890	C	T	C76302890T	HSPB1	NM_001540.5(HSPB1):c.178C>T:p.Pro60Ser	coding	Benign/Likely_benign
7	76302947	C	T	C76302947T	HSPB1	NM_001540.5(HSPB1):c.235C>T:p.Arg79Trp	coding	Benign
7	76302952	A	G	A76302952G	HSPB1	NM_001540.5(HSPB1):c.240A>G:p.Gln80=	coding	Benign/Likely_benign
7	76302962	G	A	G76302962A	HSPB1	NM_001540.5(HSPB1):c.250G>A:p.Gly84Arg	coding	Pathogenic/Likely_pathogenic
7	76302962	G	C	G76302962C	HSPB1	NM_001540.5(HSPB1):c.250G>C:p.Gly84Arg	coding	Pathogenic
7	76303158	C	A	C76303158A	HSPB1	NM_001540.5(HSPB1):c.364+82C>A	noncoding	Benign
7	76303795	C	T	C76303795T	HSPB1	NM_001540.5(HSPB1):c.365-7C>T	noncoding	Benign
7	76303816	C	T	C76303816T	HSPB1	NM_001540.5(HSPB1):c.379C>T:p.Arg127Trp	coding	Pathogenic
7	76303817	G	T	G76303817T	HSPB1	NM_001540.5(HSPB1):c.380G>T:p.Arg127Leu	coding	Pathogenic/Likely_pathogenic
7	76303836	C	T	C76303836T	HSPB1	NM_001540.5(HSPB1):c.399C>T:p.Tyr133=	coding	Benign
7	76303841	C	A	C76303841A	HSPB1	NM_001540.5(HSPB1):c.404C>A:p.Ser135Tyr	coding	Pathogenic
7	76303843	C	T	C76303843T	HSPB1	NM_001540.5(HSPB1):c.406C>T:p.Arg136Trp	coding	Pathogenic
7	76303844	G	T	G76303844T	HSPB1	NM_001540.5(HSPB1):c.407G>T:p.Arg136Leu	coding	Pathogenic/Likely_pathogenic
7	76303855	C	G	C76303855G	HSPB1	NM_001540.5(HSPB1):c.418C>G:p.Arg140Gly	coding	Pathogenic
7	76304056	C	T	C76304056T	HSPB1	NM_001540.5(HSPB1):c.501C>T:p.Ala167=	coding	Benign/Likely_benign
7	76304078	C	T	C76304078T	HSPB1	NM_001540.5(HSPB1):c.523C>T:p.Gln175Ter	coding	Pathogenic/Likely_pathogenic
7	76304094	C	T	C76304094T	HSPB1	NM_001540.5(HSPB1):c.539C>T:p.Thr180Ile	coding	Pathogenic
7	76304099	C	G	C76304099G	HSPB1	NM_001540.5(HSPB1):c.544C>G:p.Pro182Ala	coding	Pathogenic
7	76304099	C	T	C76304099T	HSPB1	NM_001540.5(HSPB1):c.544C>T:p.Pro182Ser	coding	Pathogenic
7	76304100	C	T	C76304100T	HSPB1	NM_001540.5(HSPB1):c.545C>T:p.Pro182Leu	coding	Pathogenic
7	76304115	C	T	C76304115T	HSPB1	NM_001540.5(HSPB1):c.560C>T:p.Ser187Leu	coding	Pathogenic
7	76304122	C	T	C76304122T	HSPB1	NM_001540.5(HSPB1):c.567C>T:p.Ala189=	coding	Benign/Likely_benign
7	76304128	T	C	T76304128C	HSPB1	NM_001540.5(HSPB1):c.573T>C:p.Leu191=	coding	Benign/Likely_benign
7	76304184	C	T	C76304184T	HSPB1	NM_001540.5(HSPB1):c.*11C>T	noncoding	Benign
7	76304195	C	T	C76304195T	HSPB1	NM_001540.5(HSPB1):c.*22C>T	noncoding	Benign/Likely_benign
7	76329595	G	A	G76329595A	YWHAG	NM_012479.4(YWHAG):c.726C>T:p.Gly242=	coding	Benign
7	76329712	G	A	G76329712A	YWHAG	NM_012479.4(YWHAG):c.609C>T:p.Asp203=	coding	Benign
7	76329757	G	A	G76329757A	YWHAG	NM_012479.4(YWHAG):c.564C>T:p.Asn188=	coding	Benign
7	76329870	C	A	C76329870A	YWHAG	NM_012479.4(YWHAG):c.451G>T:p.Glu151Ter	coding	Pathogenic
7	76329926	C	T	C76329926T	YWHAG	NM_012479.4(YWHAG):c.395G>A:p.Arg132His	coding	Pathogenic
7	76329927	G	A	G76329927A	YWHAG	NM_012479.4(YWHAG):c.394C>T:p.Arg132Cys	coding	Pathogenic/Likely_pathogenic
7	76425072	G	C	G76425072C	ZP3	NM_001110354.2(ZP3):c.108G>C:p.Glu36Asp	coding	Benign
7	76425078	C	T	C76425078T	ZP3	NM_001110354.2(ZP3):c.114C>T:p.Ser38=	coding	Benign
7	76425255	C	T	C76425255T	ZP3	NM_001110354.2(ZP3):c.291C>T:p.His97=	coding	Benign
7	76429602	G	A	G76429602A	ZP3	NM_001110354.2(ZP3):c.400G>A:p.Ala134Thr	coding	Pathogenic
7	76433481	G	A	G76433481A	ZP3	NM_001110354.2(ZP3):c.547G>A:p.Ala183Thr	coding	Benign
7	76433596	C	G	C76433596G	ZP3	NM_001110354.2(ZP3):c.662C>G:p.Pro221Arg	coding	Benign
7	76434087	C	G	C76434087G	ZP3	NM_001110354.2(ZP3):c.763C>G:p.Arg255Gly	coding	Pathogenic
7	76440494	T	C	T76440494C	ZP3	NM_001110354.2(ZP3):c.943T>C:p.Ser315Pro	coding	Benign
7	76441894	G	T	G76441894T	ZP3	NM_001110354.2(ZP3):c.1113G>T:p.Arg371Ser	coding	Benign
7	76441911	A	G	A76441911G	ZP3	NM_001110354.2(ZP3):c.1130A>G:p.Glu377Gly	coding	Benign
7	76503421	G	C	G76503421C	DTX2	NM_001102594.1(DTX2):c.1390-5G>C	noncoding	Benign
7	76503488	C	G	C76503488G	DTX2	NM_001102594.1(DTX2):c.1452C>G:p.Pro484=	coding	Benign
7	77313493	G	T	G77313493T	GSAP	NM_017439.4(GSAP):c.2266C>A:p.Pro756Thr	coding	Benign
7	77571160	A	G	A77571160G	PTPN12	NM_002835.4(PTPN12):c.182A>G:p.Lys61Arg	coding	Pathogenic
7	78019354	G	C	G78019354C	MAGI2	NM_012301.4(MAGI2):c.4329C>G:p.Pro1443=	coding	Benign
7	78019414	C	G	C78019414G	MAGI2	NM_012301.4(MAGI2):c.4269G>C:p.Pro1423=	coding	Benign
7	78019768	C	T	C78019768T	MAGI2	NM_012301.4(MAGI2):c.3915G>A:p.Gln1305=	coding	Benign
7	78019918	G	A	G78019918A	MAGI2	NM_012301.4(MAGI2):c.3765C>T:p.Gly1255=	coding	Benign
7	78127263	T	C	T78127263C	MAGI2	NM_012301.4(MAGI2):c.3357A>G:p.Leu1119=	coding	Benign
7	78127407	C	T	C78127407T	MAGI2	NM_012301.4(MAGI2):c.3213G>A:p.Ser1071=	coding	Benign
7	78160086	A	G	A78160086G	MAGI2	NM_012301.4(MAGI2):c.2784T>C:p.Asn928=	coding	Benign
7	78178035	G	A	G78178035A	MAGI2	NM_012301.4(MAGI2):c.2379C>T:p.Leu793=	coding	Benign
7	78178085	A	G	A78178085G	MAGI2	NM_012301.4(MAGI2):c.2329T>C:p.Leu777=	coding	Benign
7	78194930	C	T	C78194930T	MAGI2	NM_012301.4(MAGI2):c.2213G>A:p.Arg738Gln	coding	Benign/Likely_benign
7	78256235	G	A	G78256235A	MAGI2	NM_012301.4(MAGI2):c.1755C>T:p.Pro585=	coding	Benign
7	78489792	C	T	C78489792T	MAGI2	NM_012301.4(MAGI2):c.1014G>A:p.Lys338=	coding	Benign
7	78501642	T	C	T78501642C	MAGI2	NM_012301.4(MAGI2):c.900A>G:p.Glu300=	coding	Benign/Likely_benign
7	78501649	T	C	T78501649C	MAGI2	NM_012301.4(MAGI2):c.893A>G:p.Asn298Ser	coding	Benign
7	78627127	A	G	A78627127G	MAGI2	NM_012301.4(MAGI2):c.531T>C:p.Thr177=	coding	Benign
7	78627130	C	T	C78627130T	MAGI2	NM_012301.4(MAGI2):c.528G>A:p.Gly176=	coding	Benign
7	79453045	G	C	G79453045C	MAGI2	NM_012301.4(MAGI2):c.276C>G:p.Pro92=	coding	Benign/Likely_benign
7	80199257	A	G	A80199257G	GNAI1	NM_002069.6(GNAI1):c.336A>G:p.Gly112=	coding	Benign
7	80602188	G	C	G80602188C	CD36	NM_001001547.2(CD36):c.-375G>C	noncoding	Benign
7	80646139	A	C	A80646139C	CD36	NM_001001547.3(CD36):c.-132A>C	noncoding	Benign
7	80656534	T	C	T80656534C	CD36	NM_001001547.3(CD36):c.121-6T>C	noncoding	Benign
7	80656577	A	G	A80656577G	CD36	NM_001001547.3(CD36):c.158A>G:p.Asn53Ser	coding	Benign
7	80656687	C	T	C80656687T	CD36	NM_001001547.3(CD36):c.268C>T:p.Pro90Ser	coding	Pathogenic
7	80661053	A	G	A80661053G	CD36	NM_001001547.3(CD36):c.282-10A>G	noncoding	Benign
7	80669964	T	C	T80669964C	CD36	NM_001001547.3(CD36):c.760T>C:p.Phe254Leu	coding	Pathogenic
7	80673392	A	C	A80673392C	CD36	NM_001001547.3(CD36):c.1237A>C:p.Ile413Leu	coding	Pathogenic
7	80745216	G	C	G80745216C	SEMA3C	NM_006379.5(SEMA3C):c.1934C>G:p.Ala645Gly	coding	Benign
7	80748939	T	C	T80748939C	SEMA3C	NM_006379.5(SEMA3C):c.1801A>G:p.Ile601Val	coding	Benign
7	80748949	C	T	C80748949T	SEMA3C	NM_006379.5(SEMA3C):c.1791G>A:p.Pro597=	coding	Benign
7	80789297	A	T	A80789297T	SEMA3C	NM_006379.5(SEMA3C):c.1354+9T>A	noncoding	Benign
7	80798110	T	C	T80798110C	SEMA3C	NM_006379.5(SEMA3C):c.1113A>G:p.Pro371=	coding	Benign
7	80818416	G	A	G80818416A	SEMA3C	NM_006379.5(SEMA3C):c.330C>T:p.His110=	coding	Benign
7	81707219	C	A	C81707219A	HGF	NM_000601.6(HGF):c.1616+71G>T	noncoding	Benign
7	81717369	T	C	T81717369C	HGF	NM_000601.6(HGF):c.1272-4A>G	noncoding	Benign/Likely_benign
7	81729735	C	T	C81729735T	HGF	NM_000601.6(HGF):c.910G>A:p.Glu304Lys	coding	Benign/Likely_benign
7	81743456	G	A	G81743456A	HGF	NM_000601.6(HGF):c.762C>T:p.Gly254=	coding	Benign
7	81745035	A	G	A81745035G	HGF	NM_000601.6(HGF):c.711T>C:p.His237=	coding	Benign
7	81752250	C	T	C81752250T	HGF	NM_000601.6(HGF):c.495G>A:p.Ser165=	coding	Pathogenic
7	81758726	T	C	T81758726C	HGF	NM_000601.6(HGF):c.333A>G:p.Glu111=	coding	Benign/Likely_benign
7	81959300	T	G	T81959300G	CACNA2D1	NM_000722.4(CACNA2D1):c.3134A>C:p.Asp1045Ala	coding	Benign/Likely_benign
7	81959320	G	A	G81959320A	CACNA2D1	NM_000722.4(CACNA2D1):c.3114C>T:p.Pro1038=	coding	Benign
7	81964261	T	C	T81964261C	CACNA2D1	NM_000722.4(CACNA2D1):c.2673A>G:p.Val891=	coding	Benign/Likely_benign
7	81967169	G	A	G81967169A	CACNA2D1	NM_000722.4(CACNA2D1):c.2502C>T:p.Asp834=	coding	Benign
7	81968740	A	G	A81968740G	CACNA2D1	NM_000722.4(CACNA2D1):c.2395+147T>C	noncoding	Benign
7	81968982	A	T	A81968982T	CACNA2D1	NM_000722.4(CACNA2D1):c.2309-9T>A	noncoding	Benign
7	81969672	G	A	G81969672A	CACNA2D1	NM_000722.4(CACNA2D1):c.2308+209C>T	noncoding	Benign
7	81969925	C	G	C81969925G	CACNA2D1	NM_000722.4(CACNA2D1):c.2264G>C:p.Ser755Thr	coding	Benign/Likely_benign
7	81970002	C	T	C81970002T	CACNA2D1	NM_000722.4(CACNA2D1):c.2205-18G>A	noncoding	Benign
7	81970881	A	G	A81970881G	CACNA2D1	NM_000722.4(CACNA2D1):c.2142-144T>C	noncoding	Benign
7	81970951	T	G	T81970951G	CACNA2D1	NM_000722.4(CACNA2D1):c.2142-214A>C	noncoding	Benign
7	81971915	C	G	C81971915G	CACNA2D1	NM_000722.4(CACNA2D1):c.2054-51G>C	noncoding	Benign
7	81974525	C	T	C81974525T	CACNA2D1	NM_000722.4(CACNA2D1):c.1983G>A:p.Ser661=	coding	Benign/Likely_benign
7	81983644	T	C	T81983644C	CACNA2D1	NM_000722.4(CACNA2D1):c.1874-310A>G	noncoding	Benign
7	81991252	A	G	A81991252G	CACNA2D1	NM_000722.4(CACNA2D1):c.1735-6T>C	noncoding	Benign/Likely_benign
7	82005506	G	A	G82005506A	CACNA2D1	NM_000722.4(CACNA2D1):c.1516-9C>T	noncoding	Benign
7	82011872	T	C	T82011872C	CACNA2D1	NM_000722.4(CACNA2D1):c.1362+282A>G	noncoding	Benign
7	82012184	G	A	G82012184A	CACNA2D1	NM_000722.4(CACNA2D1):c.1332C>T:p.Val444=	coding	Benign
7	82012237	A	G	A82012237G	CACNA2D1	NM_000722.4(CACNA2D1):c.1279T>C:p.Leu427=	coding	Benign
7	82014497	T	C	T82014497C	CACNA2D1	NM_000722.4(CACNA2D1):c.1144-18A>G	noncoding	Benign
7	82037801	A	C	A82037801C	CACNA2D1	NM_000722.4(CACNA2D1):c.1038+276T>G	noncoding	Benign
7	82038152	C	T	C82038152T	CACNA2D1	NM_000722.4(CACNA2D1):c.963G>A:p.Ala321=	coding	Benign
7	82038155	G	A	G82038155A	CACNA2D1	NM_000722.4(CACNA2D1):c.960C>T:p.Asp320=	coding	Benign/Likely_benign
7	82038488	A	G	A82038488G	CACNA2D1	NM_000722.4(CACNA2D1):c.880-253T>C	noncoding	Benign
7	82050588	T	A	T82050588A	CACNA2D1	NM_000722.4(CACNA2D1):c.879+9840A>T	coding	Benign
7	82060476	G	C	G82060476C	CACNA2D1	NM_000722.4(CACNA2D1):c.831C>G:p.Ser277=	coding	Benign/Likely_benign
7	82060745	C	T	C82060745T	CACNA2D1	NM_000722.4(CACNA2D1):c.780-218G>A	noncoding	Benign
7	82064452	T	C	T82064452C	CACNA2D1	NM_000722.4(CACNA2D1):c.729-98A>G	noncoding	Benign
7	82084494	T	C	T82084494C	CACNA2D1	NM_000722.4(CACNA2D1):c.658+275A>G	noncoding	Benign
7	82084776	A	G	A82084776G	CACNA2D1	NM_000722.4(CACNA2D1):c.651T>C:p.Tyr217=	coding	Benign/Likely_benign
7	82170674	T	C	T82170674C	CACNA2D1	NM_000722.4(CACNA2D1):c.295-65A>G	noncoding	Benign
7	82170680	C	G	C82170680G	CACNA2D1	NM_000722.4(CACNA2D1):c.295-71G>C	noncoding	Benign
7	82170783	T	A	T82170783A	CACNA2D1	NM_000722.4(CACNA2D1):c.295-174A>T	noncoding	Benign
7	82170820	A	G	A82170820G	CACNA2D1	NM_000722.4(CACNA2D1):c.295-211T>C	noncoding	Benign
7	82335541	G	T	G82335541T	CACNA2D1	NM_000722.4(CACNA2D1):c.178-290C>A	noncoding	Benign
7	82349308	A	G	A82349308G	CACNA2D1	NM_000722.4(CACNA2D1):c.177+260T>C	noncoding	Benign
7	82443155	T	C	T82443155C	CACNA2D1	NM_000722.4(CACNA2D1):c.95+210A>G	noncoding	Benign
7	82443616	G	C	G82443616C	CACNA2D1	NM_000722.4(CACNA2D1):c.-157C>G	noncoding	Benign
7	82443642	A	G	A82443642G	CACNA2D1	NM_000722.4(CACNA2D1):c.-183T>C	noncoding	Benign
7	82760756	A	G	A82760756G	PCLO	NM_033026.6(PCLO):c.15171T>C:p.Asn5057=	coding	Benign
7	82805750	G	A	G82805750A	PCLO	NM_033026.6(PCLO):c.14871C>T:p.Ser4957=	coding	Benign
7	82822520	G	A	G82822520A	PCLO	NM_033026.6(PCLO):c.14766C>T:p.Ala4922=	coding	Benign
7	82824226	T	C	T82824226C	PCLO	NM_033026.6(PCLO):c.14596+10A>G	noncoding	Benign
7	82845415	C	T	C82845415T	PCLO	NM_033026.6(PCLO):c.13902G>A:p.Gln4634=	coding	Benign
7	82846557	T	A	T82846557A	PCLO	NM_033026.6(PCLO):c.13831+10A>T	noncoding	Benign
7	82916286	G	T	G82916286T	PCLO	NM_033026.6(PCLO):c.11700C>A:p.Pro3900=	coding	Benign
7	82916295	G	A	G82916295A	PCLO	NM_033026.6(PCLO):c.11691C>T:p.Thr3897=	coding	Benign
7	82916697	G	A	G82916697A	PCLO	NM_033026.6(PCLO):c.11289C>T:p.Leu3763=	coding	Benign
7	82949964	G	A	G82949964A	PCLO	NM_033026.6(PCLO):c.10624C>T:p.Arg3542Ter	coding	Pathogenic
7	82950977	A	T	A82950977T	PCLO	NM_033026.6(PCLO):c.9611T>A:p.Val3204Asp	coding	Benign
7	82951497	T	C	T82951497C	PCLO	NM_033026.6(PCLO):c.9098-7A>G	noncoding	Benign
7	82952241	C	T	C82952241T	PCLO	NM_033026.6(PCLO):c.8712G>A:p.Lys2904=	coding	Benign
7	82953213	A	G	A82953213G	PCLO	NM_033026.6(PCLO):c.7740T>C:p.Tyr2580=	coding	Benign
7	82953581	C	T	C82953581T	PCLO	NM_033026.6(PCLO):c.7372G>A:p.Ala2458Thr	coding	Benign
7	82954153	G	A	G82954153A	PCLO	NM_033026.6(PCLO):c.6800C>T:p.Ser2267Phe	coding	Benign
7	82954452	C	T	C82954452T	PCLO	NM_033026.6(PCLO):c.6501G>A:p.Ser2167=	coding	Benign
7	82954779	T	C	T82954779C	PCLO	NM_033026.6(PCLO):c.6174A>G:p.Leu2058=	coding	Benign
7	82954899	T	C	T82954899C	PCLO	NM_033026.6(PCLO):c.6054A>G:p.Glu2018=	coding	Benign
7	82955257	T	G	T82955257G	PCLO	NM_033026.6(PCLO):c.5696A>C:p.Gln1899Pro	coding	Benign
7	82955394	T	C	T82955394C	PCLO	NM_033026.6(PCLO):c.5559A>G:p.Arg1853=	coding	Benign
7	82956284	G	T	G82956284T	PCLO	NM_033026.6(PCLO):c.4669C>A:p.Arg1557=	coding	Benign
7	82956348	T	A	T82956348A	PCLO	NM_033026.6(PCLO):c.4605A>T:p.Ser1535=	coding	Benign
7	82956442	G	C	G82956442C	PCLO	NM_033026.6(PCLO):c.4511C>G:p.Thr1504Ser	coding	Benign
7	82956487	G	C	G82956487C	PCLO	NM_033026.6(PCLO):c.4466C>G:p.Ser1489Cys	coding	Benign
7	82966119	T	A	T82966119A	PCLO	NM_033026.6(PCLO):c.3669A>T:p.Glu1223Asp	coding	Benign
7	83135077	C	T	C83135077T	PCLO	NM_033026.6(PCLO):c.2473G>A:p.Ala825Thr	coding	Benign
7	83135475	T	A	T83135475A	PCLO	NM_033026.6(PCLO):c.2075A>T:p.Gln692Leu	coding	Benign
7	83135484	G	A	G83135484A	PCLO	NM_033026.6(PCLO):c.2066C>T:p.Ala689Val	coding	Benign/Likely_benign
7	83135608	C	T	C83135608T	PCLO	NM_033026.6(PCLO):c.1942G>A:p.Gly648Arg	coding	Benign
7	83135661	A	G	A83135661G	PCLO	NM_033026.6(PCLO):c.1894-5T>C	noncoding	Benign
7	83154971	G	A	G83154971A	PCLO	NM_033026.6(PCLO):c.1670C>T:p.Pro557Leu	coding	Benign
7	83155272	C	T	C83155272T	PCLO	NM_033026.6(PCLO):c.1369G>A:p.Gly457Arg	coding	Benign
7	83155698	G	C	G83155698C	PCLO	NM_033026.6(PCLO):c.943C>G:p.Pro315Ala	coding	Benign
7	83155780	G	A	G83155780A	PCLO	NM_033026.6(PCLO):c.861C>T:p.Asp287=	coding	Benign
7	83155988	G	A	G83155988A	PCLO	NM_033026.6(PCLO):c.653C>T:p.Pro218Leu	coding	Benign
7	83162488	G	A	G83162488A	PCLO	NM_033026.6(PCLO):c.105C>T:p.Thr35=	coding	Benign
7	83162535	C	T	C83162535T	PCLO	NM_033026.6(PCLO):c.58G>A:p.Ala20Thr	coding	Benign
7	83367631	G	A	G83367631A	SEMA3E	NM_012431.3(SEMA3E):c.2283C>T:p.Ser761=	coding	Benign
7	83367703	T	C	T83367703C	SEMA3E	NM_012431.3(SEMA3E):c.2211A>G:p.Arg737=	coding	Benign
7	83367765	T	C	T83367765C	SEMA3E	NM_012431.3(SEMA3E):c.2149A>G:p.Ile717Val	coding	Benign
7	83367806	G	A	G83367806A	SEMA3E	NM_012431.3(SEMA3E):c.2108C>T:p.Ser703Leu	coding	Pathogenic
7	83367812	C	A	C83367812A	SEMA3E	NM_012431.3(SEMA3E):c.2102G>T:p.Ser701Ile	coding	Benign
7	83386993	T	C	T83386993C	SEMA3E	NM_012431.3(SEMA3E):c.1725A>G:p.Gln575=	coding	Benign
7	83386996	T	A	T83386996A	SEMA3E	NM_012431.3(SEMA3E):c.1722A>T:p.Gly574=	coding	Benign
7	83387038	T	C	T83387038C	SEMA3E	NM_012431.3(SEMA3E):c.1680A>G:p.Arg560=	coding	Benign
7	83392656	A	G	A83392656G	SEMA3E	NM_012431.3(SEMA3E):c.1566T>C:p.Tyr522=	coding	Benign
7	83400122	C	T	C83400122T	SEMA3E	NM_012431.3(SEMA3E):c.1272G>A:p.Leu424=	coding	Benign
7	83405438	T	A	T83405438A	SEMA3E	NM_012431.3(SEMA3E):c.998+12A>T	noncoding	Benign
7	83405497	G	C	G83405497C	SEMA3E	NM_012431.3(SEMA3E):c.951C>G:p.Thr317=	coding	Benign
7	83405973	A	G	A83405973G	SEMA3E	NM_012431.3(SEMA3E):c.900T>C:p.Asn300=	coding	Benign
7	83407172	G	T	G83407172T	SEMA3E	NM_012431.3(SEMA3E):c.738C>A:p.Phe246Leu	coding	Benign
7	83408415	C	G	C83408415G	SEMA3E	NM_012431.3(SEMA3E):c.623G>C:p.Arg208Pro	coding	Benign
7	83408435	C	A	C83408435A	SEMA3E	NM_012431.3(SEMA3E):c.603G>T:p.Ala201=	coding	Benign
7	83466610	G	A	G83466610A	SEMA3E	NM_012431.3(SEMA3E):c.337-9C>T	noncoding	Benign
7	83961536	T	C	T83961536C	SEMA3A	NM_006080.3(SEMA3A):c.2151A>G:p.Thr717=	coding	Benign
7	83961764	C	G	C83961764G	SEMA3A	NM_006080.3(SEMA3A):c.1923G>C:p.Gln641His	coding	Benign
7	83985472	C	T	C83985472T	SEMA3A	NM_006080.3(SEMA3A):c.1458G>A:p.Pro486=	coding	Benign
7	84002050	T	C	T84002050C	SEMA3A	NM_006080.3(SEMA3A):c.1361-4A>G	noncoding	Benign
7	84005396	C	T	C84005396T	SEMA3A	NM_006080.3(SEMA3A):c.1303G>A:p.Val435Ile	coding	Benign
7	84007493	T	C	T84007493C	SEMA3A	NM_006080.3(SEMA3A):c.1000A>G:p.Ile334Val	coding	Benign
7	84110587	T	C	T84110587C	SEMA3A	NM_006080.3(SEMA3A):c.336A>G:p.Lys112=	coding	Benign
7	84134929	C	G	C84134929G	SEMA3A	NM_006080.3(SEMA3A):c.135G>C:p.Val45=	coding	Benign
7	84194500	C	T	C84194500T	SEMA3A	NM_006080.3(SEMA3A):c.87G>A:p.Val29=	coding	Benign
7	85012812	G	A	G85012812A	SEMA3D	NM_152754.2(SEMA3D):c.1738C>T:p.Pro580Ser	coding	Pathogenic
7	85015160	G	A	G85015160A	SEMA3D	NM_152754.2(SEMA3D):c.1602C>T:p.Cys534=	coding	Benign
7	85015225	C	T	C85015225T	SEMA3D	NM_152754.2(SEMA3D):c.1546-9G>A	noncoding	Benign
7	85022473	A	G	A85022473G	SEMA3D	NM_152754.2(SEMA3D):c.1332T>C:p.Asn444=	coding	Benign
7	85022515	G	C	G85022515C	SEMA3D	NM_152754.2(SEMA3D):c.1290C>G:p.Ser430=	coding	Benign
7	85022575	G	A	G85022575A	SEMA3D	NM_152754.2(SEMA3D):c.1230C>T:p.Thr410=	coding	Benign
7	85055804	A	G	A85055804G	SEMA3D	NM_152754.2(SEMA3D):c.774T>C:p.Asp258=	coding	Benign
7	85072957	A	G	A85072957G	SEMA3D	NM_152754.2(SEMA3D):c.495+5T>C	noncoding	Benign
7	85081553	C	T	C85081553T	SEMA3D	NM_152754.2(SEMA3D):c.339G>A:p.Arg113=	coding	Benign
7	85097871	C	T	C85097871T	SEMA3D	NM_152754.2(SEMA3D):c.246G>A:p.Leu82=	coding	Benign
7	85097974	A	G	A85097974G	SEMA3D	NM_152754.2(SEMA3D):c.152-9T>C	noncoding	Benign
7	85121733	A	G	A85121733G	SEMA3D	NM_152754.2(SEMA3D):c.151+8T>C	noncoding	Benign
7	86765277	G	A	G86765277A	GRM3	NM_000840.2(GRM3):c.132G>A:p.Leu44=	coding	Benign
7	86839542	C	T	C86839542T	GRM3	NM_000840.2(GRM3):c.2028C>T:p.Gly676=	coding	Benign
7	86850378	G	A	G86850378A	GRM3	NM_000840.2(GRM3):c.2400G>A:p.Thr800=	coding	Benign
7	87193844	A	C	A87193844C	DMTF1	NM_001142327.1(DMTF1):c.1770A>C:p.Thr590=	coding	Benign
7	87361398	G	T	G87361398T	CROT	NM_021151.4(CROT):c.249G>T:p.Glu83Asp	coding	Benign
7	87403134	C	A	C87403134A	ABCB4	NM_000443.4(ABCB4):c.3633+1G>T	noncoding	Pathogenic
7	87403160	G	C	G87403160C	ABCB4	NM_000443.4(ABCB4):c.3608C>G:p.Ser1203Ter	coding	Pathogenic
7	87403297	A	G	A87403297G	ABCB4	NM_000443.4(ABCB4):c.3487-16T>C	noncoding	Benign
7	87406287	C	T	C87406287T	ABCB4	NM_000443.4(ABCB4):c.3486+1G>A	noncoding	Pathogenic
7	87406495	C	G	C87406495G	ABCB4	NM_000443.4(ABCB4):c.3280-1G>C	coding	Pathogenic
7	87408180	G	A	G87408180A	ABCB4	NM_000443.4(ABCB4):c.3136C>T:p.Arg1046Ter	coding	Pathogenic
7	87409235	C	G	C87409235G	ABCB4	NM_000443.4(ABCB4):c.3081+1G>C	noncoding	Pathogenic
7	87409365	T	C	T87409365C	ABCB4	NM_000443.4(ABCB4):c.2952A>G:p.Ala984=	coding	Benign/Likely_benign
7	87411984	G	A	G87411984A	ABCB4	NM_000443.4(ABCB4):c.2833C>T:p.Gln945Ter	coding	Pathogenic
7	87413708	C	T	C87413708T	ABCB4	NM_000443.4(ABCB4):c.2692G>A:p.Glu898Lys	coding	Pathogenic
7	87417368	T	A	T87417368A	ABCB4	NM_000443.4(ABCB4):c.2626A>T:p.Lys876Ter	coding	Pathogenic
7	87418542	G	A	G87418542A	ABCB4	NM_000443.4(ABCB4):c.2473C>T:p.Gln825Ter	coding	Pathogenic
7	87418639	G	A	G87418639A	ABCB4	NM_000443.4(ABCB4):c.2395-19C>T	noncoding	Benign/Likely_benign
7	87420029	C	T	C87420029T	ABCB4	NM_000443.4(ABCB4):c.2363G>A:p.Arg788Gln	coding	Benign
7	87420067	C	G	C87420067G	ABCB4	NM_000443.4(ABCB4):c.2325G>C:p.Thr775=	coding	Benign
7	87422120	C	T	C87422120T	ABCB4	NM_000443.4(ABCB4):c.2316+1G>A	noncoding	Pathogenic
7	87423890	G	A	G87423890A	ABCB4	NM_000443.4(ABCB4):c.2211+16C>T	noncoding	Benign
7	87423905	C	T	C87423905T	ABCB4	NM_000443.4(ABCB4):c.2211+1G>A	noncoding	Pathogenic
7	87426812	G	A	G87426812A	ABCB4	NM_000443.4(ABCB4):c.2002C>T:p.Gln668Ter	coding	Pathogenic
7	87426860	T	C	T87426860C	ABCB4	NM_000443.4(ABCB4):c.1954A>G:p.Arg652Gly	coding	Benign
7	87426876	A	G	A87426876G	ABCB4	NM_000443.4(ABCB4):c.1938T>C:p.Asp646=	coding	Benign
7	87431514	G	A	G87431514A	ABCB4	NM_000443.4(ABCB4):c.1783C>T:p.Arg595Ter	coding	Pathogenic
7	87431552	C	T	C87431552T	ABCB4	NM_000443.4(ABCB4):c.1745G>A:p.Arg582Gln	coding	Pathogenic
7	87439684	G	A	G87439684A	ABCB4	NM_000443.4(ABCB4):c.1714C>T:p.Gln572Ter	coding	Pathogenic
7	87439765	G	C	G87439765C	ABCB4	NM_018849.3(ABCB4):c.1633C>G:p.Arg545Gly	coding	Pathogenic
7	87439814	C	G	C87439814G	ABCB4	NM_000443.4(ABCB4):c.1584G>C:p.Glu528Asp	coding	Benign
7	87440258	C	A	C87440258A	ABCB4	NM_000443.4(ABCB4):c.1501G>T:p.Glu501Ter	coding	Pathogenic
7	87443361	C	T	C87443361T	ABCB4	NM_000443.4(ABCB4):c.1314G>A:p.Thr438=	coding	Benign/Likely_benign
7	87443686	A	G	A87443686G	ABCB4	NM_000443.4(ABCB4):c.1207T>C:p.Tyr403His	coding	Pathogenic
7	87443749	C	A	C87443749A	ABCB4	NM_000443.4(ABCB4):c.1144G>T:p.Glu382Ter	coding	Pathogenic
7	87444976	C	A	C87444976A	ABCB4	NM_000443.4(ABCB4):c.1006-1G>T	coding	Pathogenic
7	87444977	T	G	T87444977G	ABCB4	NM_000443.4(ABCB4):c.1006-2A>C	noncoding	Pathogenic
7	87447107	G	T	G87447107T	ABCB4	NM_000443.4(ABCB4):c.932C>A:p.Ser311Ter	coding	Pathogenic
7	87447112	A	C	A87447112C	ABCB4	NM_000443.4(ABCB4):c.927T>G:p.Tyr309Ter	coding	Pathogenic
7	87447165	T	A	T87447165A	ABCB4	NM_000443.4(ABCB4):c.874A>T:p.Lys292Ter	coding	Pathogenic
7	87447207	T	C	T87447207C	ABCB4	NM_000443.4(ABCB4):c.834-2A>G	noncoding	Pathogenic
7	87449962	C	T	C87449962T	ABCB4	NM_000443.4(ABCB4):c.833+6G>A	noncoding	Benign
7	87450090	T	A	T87450090A	ABCB4	NM_000443.4(ABCB4):c.711A>T:p.Ile237=	coding	Benign
7	87451635	G	A	G87451635A	ABCB4	NM_000443.4(ABCB4):c.696C>T:p.Ala232=	coding	Benign/Likely_benign
7	87452957	T	C	T87452957C	ABCB4	NM_000443.4(ABCB4):c.523A>G:p.Thr175Ala	coding	Benign/Likely_benign
7	87452976	G	A	G87452976A	ABCB4	NM_000443.4(ABCB4):c.504C>T:p.Asn168=	coding	Benign
7	87453005	G	A	G87453005A	ABCB4	NM_000443.4(ABCB4):c.475C>T:p.Arg159Ter	coding	Pathogenic
7	87453021	A	G	A87453021G	ABCB4	NM_000443.4(ABCB4):c.459T>C:p.Phe153=	coding	Benign
7	87453024	C	T	C87453024T	ABCB4	NM_000443.4(ABCB4):c.456G>A:p.Lys152=	coding	Benign/Likely_benign
7	87453050	G	A	G87453050A	ABCB4	NM_000443.4(ABCB4):c.430C>T:p.Arg144Ter	coding	Pathogenic
7	87453137	T	C	T87453137C	ABCB4	NM_000443.4(ABCB4):c.345-2A>G	noncoding	Pathogenic
7	87462869	G	A	G87462869A	ABCB4	NM_000443.4(ABCB4):c.175C>T:p.Leu59=	coding	Benign
7	87462897	G	A	G87462897A	ABCB4	NM_000443.4(ABCB4):c.147C>T:p.Ser49=	coding	Benign/Likely_benign
7	87462905	G	A	G87462905A	ABCB4	NM_000443.4(ABCB4):c.139C>T:p.Arg47Ter	coding	Pathogenic
7	87472662	T	A	T87472662A	ABCB4	NM_000443.4(ABCB4):c.94A>T:p.Lys32Ter	coding	Pathogenic
7	87472691	T	C	T87472691C	ABCB4	NM_000443.4(ABCB4):c.81-16A>G	noncoding	Benign
7	87475466	C	T	C87475466T	ABCB4	NM_000443.4(ABCB4):c.-1G>A	coding	Benign
7	87475475	A	G	A87475475G	ABCB4	NM_000443.4(ABCB4):c.-6-4T>C	noncoding	Benign
7	87504335	C	T	C87504335T	ABCB1	NM_001348946.2(ABCB1):c.3751G>A:p.Val1251Ile	coding	Benign
7	87509368	G	A	G87509368A	ABCB1	NM_001348946.2(ABCB1):c.3396C>T:p.Ala1132=	coding	Benign
7	87509444	T	G	T87509444G	ABCB1	NM_001348946.2(ABCB1):c.3320A>C:p.Gln1107Pro	coding	Benign
7	87531302	A	T	A87531302T	ABCB1	NM_001348946.2(ABCB1):c.2677T>A:p.Ser893Thr	coding	Benign
7	87531329	G	A	G87531329A	ABCB1	NM_001348946.2(ABCB1):c.2650C>T:p.Leu884=	coding	Benign
7	87549411	C	G	C87549411G	ABCB1	NM_001348946.2(ABCB1):c.1662G>C:p.Leu554=	coding	Benign
7	87550285	A	G	A87550285G	ABCB1	NM_001348946.2(ABCB1):c.1236T>C:p.Gly412=	coding	Benign
7	87550300	C	T	C87550300T	ABCB1	NM_001348946.2(ABCB1):c.1225-4G>A	noncoding	Benign
7	87550493	C	T	C87550493T	ABCB1	NM_001348946.2(ABCB1):c.1199G>A:p.Ser400Asn	coding	Benign
7	87561309	T	C	T87561309C	ABCB1	NM_001348946.2(ABCB1):c.781A>G:p.Ile261Val	coding	Benign
7	87561361	T	C	T87561361C	ABCB1	NM_001348946.2(ABCB1):c.729A>G:p.Glu243=	coding	Benign
7	87566218	C	A	C87566218A	ABCB1	NM_001348946.2(ABCB1):c.554G>T:p.Gly185Val	coding	Pathogenic
7	87566224	T	C	T87566224C	ABCB1	NM_001348946.2(ABCB1):c.548A>G:p.Asn183Ser	coding	Benign
7	87570248	C	A	C87570248A	ABCB1	NM_001348946.2(ABCB1):c.287-25G>T	noncoding	Benign
7	87878060	C	A	C87878060A	DBF4	NM_006716.4(DBF4):c.54C>A:p.Ile18=	coding	Benign
7	87907714	A	G	A87907714G	DBF4	NM_006716.4(DBF4):c.1576A>G:p.Ile526Val	coding	Benign
7	87907873	A	G	A87907873G	DBF4	NM_006716.4(DBF4):c.1735A>G:p.Lys579Glu	coding	Benign
7	87934479	T	G	T87934479G	ADAM22	NM_021723.5(ADAM22):c.14T>G:p.Val5Gly	coding	Benign
7	87934559	G	A	G87934559A	ADAM22	NM_021723.5(ADAM22):c.85+9G>A	noncoding	Benign
7	87935073	G	A	G87935073A	ADAM22	NM_021723.5(ADAM22):c.133G>A:p.Val45Met	coding	Benign
7	88075657	C	T	C88075657T	ADAM22	NM_021723.5(ADAM22):c.355C>T:p.His119Tyr	coding	Benign
7	88116788	A	C	A88116788C	ADAM22	NM_021723.5(ADAM22):c.581A>C:p.Glu194Ala	coding	Benign
7	88125640	C	G	C88125640G	ADAM22	NM_021723.5(ADAM22):c.659C>G:p.Pro220Arg	coding	Benign
7	88125659	G	A	G88125659A	ADAM22	NM_021723.5(ADAM22):c.678G>A:p.Gln226=	coding	Benign
7	88136013	G	A	G88136013A	ADAM22	NM_004194.4(ADAM22):c.1202G>A:p.Cys401Tyr	coding	Pathogenic
7	88145408	T	G	T88145408G	ADAM22	NM_021723.5(ADAM22):c.1393-7T>G	noncoding	Benign
7	88149065	A	T	A88149065T	ADAM22	NM_021723.5(ADAM22):c.1566+8A>T	noncoding	Benign
7	88151031	G	A	G88151031A	ADAM22	NM_021723.5(ADAM22):c.1617G>A:p.Gln539=	coding	Benign
7	88151250	G	A	G88151250A	ADAM22	NM_021723.5(ADAM22):c.1618-7G>A	noncoding	Benign
7	88155920	T	C	T88155920C	ADAM22	NM_021723.5(ADAM22):c.1821T>C:p.Asn607=	coding	Benign
7	88155926	C	T	C88155926T	ADAM22	NM_021723.5(ADAM22):c.1827C>T:p.Gly609=	coding	Benign
7	88155950	C	T	C88155950T	ADAM22	NM_021723.5(ADAM22):c.1851C>T:p.Leu617=	coding	Benign
7	88210926	C	T	C88210926T	SRI	NM_003130.3(SRI):c.206-1G>A	coding	Pathogenic
7	88282672	C	A	C88282672A	STEAP4	NM_024636.4(STEAP4):c.953G>T:p.Arg318Leu	coding	Benign
7	88282795	C	T	C88282795T	STEAP4	NM_024636.4(STEAP4):c.830G>A:p.Arg277His	coding	Benign
7	88760094	G	A	G88760094A	ZNF804B	NM_181646.5(ZNF804B):c.108+10G>A	noncoding	Benign
7	89218277	T	C	T89218277C	ZNF804B	NM_181646.5(ZNF804B):c.231T>C:p.Tyr77=	coding	Benign
7	89334087	C	T	C89334087T	ZNF804B	NM_181646.5(ZNF804B):c.1105C>T:p.Pro369Ser	coding	Benign
7	89334150	C	A	C89334150A	ZNF804B	NM_181646.5(ZNF804B):c.1168C>A:p.Leu390Met	coding	Benign
7	89334161	T	G	T89334161G	ZNF804B	NM_181646.5(ZNF804B):c.1179T>G:p.Ser393Arg	coding	Benign
7	89334207	A	G	A89334207G	ZNF804B	NM_181646.5(ZNF804B):c.1225A>G:p.Asn409Asp	coding	Benign
7	89334611	G	A	G89334611A	ZNF804B	NM_181646.5(ZNF804B):c.1629G>A:p.Pro543=	coding	Benign
7	89335224	C	T	C89335224T	ZNF804B	NM_181646.5(ZNF804B):c.2242C>T:p.His748Tyr	coding	Benign
7	89335501	G	A	G89335501A	ZNF804B	NM_181646.5(ZNF804B):c.2519G>A:p.Ser840Asn	coding	Benign
7	89335574	C	T	C89335574T	ZNF804B	NM_181646.5(ZNF804B):c.2592C>T:p.Tyr864=	coding	Benign
7	89335722	A	C	A89335722C	ZNF804B	NM_181646.5(ZNF804B):c.2740A>C:p.Asn914His	coding	Benign
7	89335872	A	G	A89335872G	ZNF804B	NM_181646.5(ZNF804B):c.2890A>G:p.Thr964Ala	coding	Benign
7	89335875	A	G	A89335875G	ZNF804B	NM_181646.5(ZNF804B):c.2893A>G:p.Ile965Val	coding	Benign
7	89335979	G	T	G89335979T	ZNF804B	NM_181646.5(ZNF804B):c.2997G>T:p.Arg999Ser	coding	Benign
7	89336183	C	T	C89336183T	ZNF804B	NM_181646.5(ZNF804B):c.3201C>T:p.Asp1067=	coding	Benign
7	90164518	C	T	C90164518T	STEAP1	NM_012449.3(STEAP1):c.804C>T:p.His268=	coding	Benign
7	90245448	G	T	G90245448T	CFAP69	NM_001039706.3(CFAP69):c.24G>T:p.Ala8=	coding	Benign
7	90245460	C	T	C90245460T	CFAP69	NM_001039706.3(CFAP69):c.36C>T:p.Ala12=	coding	Benign
7	90262017	G	A	G90262017A	CFAP69	NM_001039706.3(CFAP69):c.317G>A:p.Arg106His	coding	Benign
7	90271539	G	A	G90271539A	CFAP69	NM_001039706.3(CFAP69):c.546G>A:p.Ala182=	coding	Benign
7	90271640	G	A	G90271640A	CFAP69	NM_001039706.3(CFAP69):c.647G>A:p.Trp216Ter	coding	Pathogenic
7	90271861	C	T	C90271861T	CFAP69	NM_001039706.3(CFAP69):c.763C>T:p.Gln255Ter	coding	Pathogenic
7	90271959	G	A	G90271959A	CFAP69	NM_001039706.3(CFAP69):c.860+1G>A	coding	Pathogenic
7	90274042	C	T	C90274042T	CFAP69	NM_001039706.3(CFAP69):c.916C>T:p.Arg306Cys	coding	Benign
7	90277286	A	G	A90277286G	CFAP69	NM_001039706.3(CFAP69):c.1107A>G:p.Leu369=	coding	Benign
7	90282895	C	T	C90282895T	CFAP69	NM_001039706.3(CFAP69):c.1376C>T:p.Pro459Leu	coding	Benign
7	90288263	C	T	C90288263T	CFAP69	NM_001039706.3(CFAP69):c.1686C>T:p.Ile562=	coding	Benign
7	90726626	C	T	C90726626T	CDK14	NM_001287135.2(CDK14):c.183C>T:p.Pro61=	coding	Benign
7	91112566	G	A	G91112566A	CDK14	NM_001287135.2(CDK14):c.1179G>A:p.Glu393=	coding	Benign
7	91265420	A	G	A91265420G	FZD1	NM_003505.2(FZD1):c.540A>G:p.Leu180=	coding	Benign
7	91266629	C	T	C91266629T	FZD1	NM_003505.2(FZD1):c.1749C>T:p.His583=	coding	Benign
7	91874103	C	T	C91874103T	MTERF1	NM_006980.5(MTERF1):c.691G>A:p.Ala231Thr	coding	Benign
7	91874533	G	A	G91874533A	MTERF1	NM_006980.5(MTERF1):c.261C>T:p.Asp87=	coding	Benign
7	91940815	C	T	C91940815T	AKAP9	NM_005751.4(AKAP9):c.-285C>T	noncoding	Benign
7	91941301	C	A	C91941301A	AKAP9	NM_005751.4(AKAP9):c.48+154C>A	noncoding	Benign
7	91973690	G	A	G91973690A	AKAP9	NM_005751.4(AKAP9):c.49-21G>A	noncoding	Benign
7	91973742	C	T	C91973742T	AKAP9	NM_005751.4(AKAP9):c.80C>T:p.Ser27Leu	coding	Benign/Likely_benign
7	91973743	G	A	G91973743A	AKAP9	NM_005751.4(AKAP9):c.81G>A:p.Ser27=	coding	Benign/Likely_benign
7	91973801	C	T	C91973801T	AKAP9	NM_005751.4(AKAP9):c.139C>T:p.His47Tyr	coding	Benign/Likely_benign
7	91995617	A	G	A91995617G	AKAP9	NM_005751.4(AKAP9):c.747A>G:p.Glu249=	coding	Benign/Likely_benign
7	92000670	T	G	T92000670G	AKAP9	NM_005751.4(AKAP9):c.931-178T>G	noncoding	Benign
7	92000687	G	C	G92000687C	AKAP9	NM_005751.4(AKAP9):c.931-161G>C	noncoding	Benign
7	92000865	A	G	A92000865G	AKAP9	NM_005751.4(AKAP9):c.948A>G:p.Val316=	coding	Benign/Likely_benign
7	92000970	A	G	A92000970G	AKAP9	NM_005751.4(AKAP9):c.1053A>G:p.Lys351=	coding	Benign/Likely_benign
7	92001159	C	T	C92001159T	AKAP9	NM_005751.4(AKAP9):c.1242C>T:p.Phe414=	coding	Benign
7	92001218	G	A	G92001218A	AKAP9	NM_005751.4(AKAP9):c.1301G>A:p.Arg434Gln	coding	Benign/Likely_benign
7	92001289	G	C	G92001289C	AKAP9	NM_005751.4(AKAP9):c.1372G>C:p.Ala458Pro	coding	Benign
7	92001306	G	T	G92001306T	AKAP9	NM_005751.5(AKAP9):c.1389G>T:p.Met463Ile	coding	Benign
7	92001453	C	T	C92001453T	AKAP9	NM_005751.4(AKAP9):c.1536C>T:p.Leu512=	coding	Benign/Likely_benign
7	92001492	T	C	T92001492C	AKAP9	NM_005751.4(AKAP9):c.1575T>C:p.Ala525=	coding	Benign/Likely_benign
7	92001654	T	G	T92001654G	AKAP9	NM_005751.4(AKAP9):c.1737T>G:p.Ser579=	coding	Benign
7	92002342	A	G	A92002342G	AKAP9	NM_005751.4(AKAP9):c.2425A>G:p.Ile809Val	coding	Benign/Likely_benign
7	92002506	G	A	G92002506A	AKAP9	NM_005751.4(AKAP9):c.2589G>A:p.Glu863=	coding	Benign
7	92002699	T	C	T92002699C	AKAP9	NM_005751.4(AKAP9):c.2782T>C:p.Leu928=	coding	Benign/Likely_benign
7	92002983	A	G	A92002983G	AKAP9	NM_005751.5(AKAP9):c.3066A>G:p.Gly1022=	coding	Benign
7	92002989	G	C	G92002989C	AKAP9	NM_005751.4(AKAP9):c.3072G>C:p.Val1024=	coding	Benign
7	92002992	C	T	C92002992T	AKAP9	NM_005751.4(AKAP9):c.3075C>T:p.Thr1025=	coding	Benign/Likely_benign
7	92003110	A	G	A92003110G	AKAP9	NM_005751.4(AKAP9):c.3193A>G:p.Ser1065Gly	coding	Benign
7	92003140	T	C	T92003140C	AKAP9	NM_005751.4(AKAP9):c.3223T>C:p.Leu1075=	coding	Benign/Likely_benign
7	92003163	A	G	A92003163G	AKAP9	NM_005751.4(AKAP9):c.3246A>G:p.Ser1082=	coding	Benign/Likely_benign
7	92003248	C	A	C92003248A	AKAP9	NM_005751.4(AKAP9):c.3318+13C>A	noncoding	Benign/Likely_benign
7	92012614	A	G	A92012614G	AKAP9	NM_005751.4(AKAP9):c.3504A>G:p.Glu1168=	coding	Benign/Likely_benign
7	92014088	G	T	G92014088T	AKAP9	NM_005751.4(AKAP9):c.3533-161G>T	noncoding	Benign
7	92015838	G	C	G92015838C	AKAP9	NM_005751.4(AKAP9):c.3613-291G>C	noncoding	Benign
7	92015951	A	G	A92015951G	AKAP9	NM_005751.4(AKAP9):c.3613-178A>G	noncoding	Benign
7	92016140	T	C	T92016140C	AKAP9	NM_005751.4(AKAP9):c.3624T>C:p.Ser1208=	coding	Benign/Likely_benign
7	92016884	C	T	C92016884T	AKAP9	NM_005751.4(AKAP9):c.3752-133C>T	noncoding	Benign
7	92017092	G	A	G92017092A	AKAP9	NM_005751.4(AKAP9):c.3827G>A:p.Arg1276Gln	coding	Benign/Likely_benign
7	92029836	C	G	C92029836G	AKAP9	NM_005751.4(AKAP9):c.4149-59C>G	noncoding	Benign
7	92029945	T	C	T92029945C	AKAP9	NM_005751.4(AKAP9):c.4199T>C:p.Met1400Thr	coding	Benign/Likely_benign
7	92031797	G	C	G92031797C	AKAP9	NM_005751.4(AKAP9):c.4338+193G>C	noncoding	Benign
7	92038378	T	G	T92038378G	AKAP9	NM_005751.4(AKAP9):c.4339-41T>G	noncoding	Benign
7	92038520	G	T	G92038520T	AKAP9	NM_005751.4(AKAP9):c.4440G>T:p.Val1480=	coding	Benign
7	92038599	G	C	G92038599C	AKAP9	NM_005751.4(AKAP9):c.4519G>C:p.Asp1507His	coding	Benign
7	92040494	G	A	G92040494A	AKAP9	NM_005751.4(AKAP9):c.4693-180G>A	noncoding	Benign
7	92040806	A	C	A92040806C	AKAP9	NM_005751.4(AKAP9):c.4825A>C:p.Arg1609=	coding	Benign
7	92040822	G	A	G92040822A	AKAP9	NM_005751.4(AKAP9):c.4841G>A:p.Arg1614Gln	coding	Benign/Likely_benign
7	92042198	T	G	T92042198G	AKAP9	NM_005751.4(AKAP9):c.5058+12T>G	noncoding	Benign
7	92042539	C	A	C92042539A	AKAP9	NM_005751.4(AKAP9):c.5059-129C>A	noncoding	Benign
7	92043089	G	A	G92043089A	AKAP9	NM_005751.4(AKAP9):c.5162+318G>A	noncoding	Benign
7	92044988	G	A	G92044988A	AKAP9	NM_005751.4(AKAP9):c.5163-20G>A	noncoding	Benign
7	92045091	T	C	T92045091C	AKAP9	NM_005751.4(AKAP9):c.5246T>C:p.Ile1749Thr	coding	Benign/Likely_benign
7	92045128	T	C	T92045128C	AKAP9	NM_005751.4(AKAP9):c.5283T>C:p.Ser1761=	coding	Benign
7	92045493	T	C	T92045493C	AKAP9	NM_005751.4(AKAP9):c.5368+280T>C	noncoding	Benign
7	92052785	A	G	A92052785G	AKAP9	NM_005751.4(AKAP9):c.5428A>G:p.Met1810Val	coding	Benign/Likely_benign
7	92061143	A	G	A92061143G	AKAP9	NM_005751.4(AKAP9):c.5602-117A>G	noncoding	Benign
7	92062287	C	T	C92062287T	AKAP9	NM_005751.4(AKAP9):c.5778C>T:p.Gly1926=	coding	Benign/Likely_benign
7	92062339	A	G	A92062339G	AKAP9	NM_005751.4(AKAP9):c.5830A>G:p.Ile1944Val	coding	Benign
7	92062632	G	T	G92062632T	AKAP9	NM_005751.4(AKAP9):c.5977+146G>T	noncoding	Benign
7	92065387	A	G	A92065387G	AKAP9	NM_005751.4(AKAP9):c.6134A>G:p.Asn2045Ser	coding	Benign
7	92070022	T	C	T92070022C	AKAP9	NM_005751.4(AKAP9):c.6331-8T>C	noncoding	Benign
7	92070953	T	C	T92070953C	AKAP9	NM_005751.4(AKAP9):c.6556T>C:p.Ser2186Pro	coding	Benign/Likely_benign
7	92076938	A	G	A92076938G	AKAP9	NM_005751.4(AKAP9):c.6696A>G:p.Gln2232=	coding	Benign/Likely_benign
7	92077851	A	G	A92077851G	AKAP9	NM_005751.4(AKAP9):c.6921A>G:p.Gln2307=	coding	Benign/Likely_benign
7	92077883	C	T	C92077883T	AKAP9	NM_005751.4(AKAP9):c.6945+8C>T	noncoding	Benign/Likely_benign
7	92078905	T	C	T92078905C	AKAP9	NM_005751.4(AKAP9):c.6946-174T>C	noncoding	Benign
7	92079354	A	G	A92079354G	AKAP9	NM_005751.4(AKAP9):c.7221A>G:p.Glu2407=	coding	Benign/Likely_benign
7	92079408	G	A	G92079408A	AKAP9	NM_005751.4(AKAP9):c.7275G>A:p.Gln2425=	coding	Benign
7	92079584	A	G	A92079584G	AKAP9	NM_005751.4(AKAP9):c.7451A>G:p.Lys2484Arg	coding	Benign/Likely_benign
7	92079771	A	G	A92079771G	AKAP9	NM_005751.4(AKAP9):c.7638A>G:p.Ile2546Met	coding	Benign/Likely_benign
7	92082477	A	G	A92082477G	AKAP9	NM_005751.4(AKAP9):c.8020-45A>G	noncoding	Benign
7	92083384	A	G	A92083384G	AKAP9	NM_005751.4(AKAP9):c.8375A>G:p.Asn2792Ser	coding	Benign/Likely_benign
7	92083494	G	A	G92083494A	AKAP9	NM_005751.4(AKAP9):c.8485G>A:p.Glu2829Lys	coding	Benign/Likely_benign
7	92084658	C	T	C92084658T	AKAP9	NM_005751.4(AKAP9):c.8665C>T:p.Leu2889=	coding	Benign/Likely_benign
7	92085597	C	T	C92085597T	AKAP9	NM_005751.4(AKAP9):c.8935C>T:p.Pro2979Ser	coding	Benign/Likely_benign
7	92086295	A	G	A92086295G	AKAP9	NM_005751.4(AKAP9):c.9092A>G:p.Gln3031Arg	coding	Benign
7	92086348	C	T	C92086348T	AKAP9	NM_005751.5(AKAP9):c.9145C>T:p.Leu3049=	coding	Benign/Likely_benign
7	92095439	G	A	G92095439A	AKAP9	NM_005751.4(AKAP9):c.9729+266G>A	noncoding	Benign
7	92096722	A	G	A92096722G	AKAP9	NM_005751.4(AKAP9):c.9763A>G:p.Arg3255Gly	coding	Benign/Likely_benign
7	92096888	G	A	G92096888A	AKAP9	NM_005751.4(AKAP9):c.9929G>A:p.Arg3310Gln	coding	Benign/Likely_benign
7	92097156	T	C	T92097156C	AKAP9	NM_005751.4(AKAP9):c.10197T>C:p.Thr3399=	coding	Benign/Likely_benign
7	92097290	A	G	A92097290G	AKAP9	NM_005751.4(AKAP9):c.10331A>G:p.Gln3444Arg	coding	Benign/Likely_benign
7	92097613	A	C	A92097613C	AKAP9	NM_005751.4(AKAP9):c.10426A>C:p.Arg3476=	coding	Benign/Likely_benign
7	92098071	G	A	G92098071A	AKAP9	NM_005751.4(AKAP9):c.10608-38G>A	noncoding	Benign
7	92098094	G	C	G92098094C	AKAP9	NM_005751.4(AKAP9):c.10608-15G>C	noncoding	Benign/Likely_benign
7	92099813	A	G	A92099813G	AKAP9	NM_005751.4(AKAP9):c.10840A>G:p.Met3614Val	coding	Benign/Likely_benign
7	92099818	G	A	G92099818A	AKAP9	NM_005751.4(AKAP9):c.10845G>A:p.Lys3615=	coding	Benign/Likely_benign
7	92099831	A	G	A92099831G	AKAP9	NM_005751.4(AKAP9):c.10858A>G:p.Ile3620Val	coding	Benign/Likely_benign
7	92102631	G	A	G92102631A	AKAP9	NM_005751.4(AKAP9):c.11135G>A:p.Arg3712Gln	coding	Benign/Likely_benign
7	92102721	G	C	G92102721C	AKAP9	NM_005751.4(AKAP9):c.11225G>C:p.Arg3742Pro	coding	Benign/Likely_benign
7	92102769	G	A	G92102769A	AKAP9	NM_005751.4(AKAP9):c.11273G>A:p.Arg3758His	coding	Benign/Likely_benign
7	92102796	C	T	C92102796T	AKAP9	NM_005751.4(AKAP9):c.11300C>T:p.Ser3767Leu	coding	Benign/Likely_benign
7	92102833	A	G	A92102833G	AKAP9	NM_005751.4(AKAP9):c.11330+7A>G	noncoding	Benign
7	92106992	C	G	C92106992G	AKAP9	NM_005751.4(AKAP9):c.11417-301C>G	noncoding	Benign
7	92107150	T	G	T92107150G	AKAP9	NM_005751.4(AKAP9):c.11417-143T>G	noncoding	Benign
7	92107480	T	A	T92107480A	AKAP9	NM_005751.4(AKAP9):c.11546+58T>A	noncoding	Benign
7	92113836	A	G	A92113836G	CYP51A1	NM_000786.4(CYP51A1):c.1359T>C:p.His453=	coding	Benign
7	92198986	G	A	G92198986A	KRIT1	NM_194456.1(KRIT1):c.*1750C>T	noncoding	Benign/Likely_benign
7	92199034	T	C	T92199034C	KRIT1	NM_194456.1(KRIT1):c.*1702A>G	noncoding	Benign
7	92199206	A	G	A92199206G	KRIT1	NM_194456.1(KRIT1):c.*1530T>C	noncoding	Benign/Likely_benign
7	92199292	A	C	A92199292C	KRIT1	NM_194456.1(KRIT1):c.*1444T>G	noncoding	Benign
7	92199351	T	C	T92199351C	KRIT1	NM_194456.1(KRIT1):c.*1385A>G	noncoding	Benign
7	92199373	A	C	A92199373C	KRIT1	NM_194456.1(KRIT1):c.*1363T>G	noncoding	Benign/Likely_benign
7	92199401	A	G	A92199401G	KRIT1	NM_194456.1(KRIT1):c.*1335T>C	noncoding	Benign
7	92200679	C	T	C92200679T	KRIT1	NM_194456.1(KRIT1):c.*57G>A	noncoding	Benign/Likely_benign
7	92200805	C	T	C92200805T	KRIT1	NM_194456.1(KRIT1):c.2143-1G>A	coding	Pathogenic
7	92201357	G	A	G92201357A	KRIT1	NM_194456.1(KRIT1):c.2092C>T:p.Gln698Ter	coding	Pathogenic
7	92201384	G	A	G92201384A	KRIT1	NM_194454.3(KRIT1):c.2065C>T:p.Gln689Ter	coding	Pathogenic
7	92201403	C	T	C92201403T	KRIT1	NM_194456.1(KRIT1):c.2046G>A:p.Lys682=	coding	Benign
7	92201405	T	G	T92201405G	KRIT1	NM_194456.1(KRIT1):c.2044A>C:p.Lys682Gln	coding	Benign
7	92201435	T	C	T92201435C	KRIT1	NM_194456.1(KRIT1):c.2026-12A>G	noncoding	Pathogenic
7	92213240	T	C	T92213240C	KRIT1	NM_194456.1(KRIT1):c.1980A>G:p.Val660=	coding	Benign
7	92213330	C	T	C92213330T	KRIT1	NM_194456.1(KRIT1):c.1890G>A:p.Trp630Ter	coding	Pathogenic
7	92213371	C	A	C92213371A	KRIT1	NM_194456.1(KRIT1):c.1849G>T:p.Glu617Ter	coding	Pathogenic
7	92213402	C	T	C92213402T	KRIT1	NM_194454.3(KRIT1):c.1819-1G>A	coding	Pathogenic
7	92213895	G	C	G92213895C	KRIT1	NM_194456.1(KRIT1):c.1815C>G:p.Tyr605Ter	coding	Pathogenic
7	92213901	A	G	A92213901G	KRIT1	NM_194456.1(KRIT1):c.1809T>C:p.His603=	coding	Benign/Likely_benign
7	92213945	T	A	T92213945A	KRIT1	NM_194456.1(KRIT1):c.1765A>T:p.Lys589Ter	coding	Pathogenic
7	92213981	T	C	T92213981C	KRIT1	NM_194456.1(KRIT1):c.1731-2A>G	noncoding	Pathogenic
7	92214606	C	T	C92214606T	KRIT1	NM_194456.1(KRIT1):c.1730+5G>A	noncoding	Pathogenic
7	92221901	C	T	C92221901T	KRIT1	NM_194456.1(KRIT1):c.1563+1G>A	noncoding	Pathogenic
7	92221907	T	A	T92221907A	KRIT1	NM_194456.1(KRIT1):c.1558A>T:p.Lys520Ter	coding	Pathogenic
7	92221952	G	A	G92221952A	KRIT1	NM_194456.1(KRIT1):c.1513C>T:p.Gln505Ter	coding	Pathogenic
7	92222048	G	A	G92222048A	KRIT1	NM_194456.1(KRIT1):c.1417C>T:p.Gln473Ter	coding	Pathogenic
7	92222054	C	A	C92222054A	KRIT1	NM_194456.1(KRIT1):c.1412-1G>T	coding	Pathogenic
7	92222055	T	G	T92222055G	KRIT1	NM_194456.1(KRIT1):c.1412-2A>C	noncoding	Pathogenic/Likely_pathogenic
7	92222062	C	T	C92222062T	KRIT1	NM_194456.1(KRIT1):c.1412-9G>A	noncoding	Benign/Likely_benign
7	92222833	G	T	G92222833T	KRIT1	NM_194456.1(KRIT1):c.1400C>A:p.Ser467Ter	coding	Pathogenic
7	92222841	C	T	C92222841T	KRIT1	NM_194454.3(KRIT1):c.1392G>A:p.Trp464Ter	coding	Pathogenic
7	92222842	C	T	C92222842T	KRIT1	NM_194456.1(KRIT1):c.1391G>A:p.Trp464Ter	coding	Pathogenic
7	92222870	G	A	G92222870A	KRIT1	NM_194456.1(KRIT1):c.1363C>T:p.Gln455Ter	coding	Pathogenic
7	92222918	C	A	C92222918A	KRIT1	NM_194454.3(KRIT1):c.1315G>T:p.Gly439Ter	coding	Pathogenic
7	92222966	G	A	G92222966A	KRIT1	NM_194456.1(KRIT1):c.1267C>T:p.Arg423Ter	coding	Pathogenic
7	92222979	C	T	C92222979T	KRIT1	NM_194456.1(KRIT1):c.1255-1G>A	coding	Pathogenic
7	92222980	T	C	T92222980C	KRIT1	NM_194456.1(KRIT1):c.1255-2A>G	noncoding	Pathogenic
7	92225729	A	C	A92225729C	KRIT1	NM_194456.1(KRIT1):c.1245T>G:p.Ile415Met	coding	Benign/Likely_benign
7	92225773	G	A	G92225773A	KRIT1	NM_194456.1(KRIT1):c.1201C>T:p.Gln401Ter	coding	Pathogenic
7	92225840	G	C	G92225840C	KRIT1	NM_194456.1(KRIT1):c.1147-13C>G	noncoding	Pathogenic/Likely_pathogenic
7	92226518	T	A	T92226518A	KRIT1	NM_194456.1(KRIT1):c.1146+8A>T	noncoding	Benign/Likely_benign
7	92226525	C	T	C92226525T	KRIT1	NM_194456.1(KRIT1):c.1146+1G>A	noncoding	Pathogenic
7	92226532	C	T	C92226532T	KRIT1	NM_194456.1(KRIT1):c.1140G>A:p.Thr380=	coding	Benign/Likely_benign
7	92226577	T	C	T92226577C	KRIT1	NM_194456.1(KRIT1):c.1095A>G:p.Gly365=	coding	Benign/Likely_benign
7	92226609	G	A	G92226609A	KRIT1	NM_194456.1(KRIT1):c.1063C>T:p.Leu355Phe	coding	Benign/Likely_benign
7	92226682	C	T	C92226682T	KRIT1	NM_194456.1(KRIT1):c.990G>A:p.Trp330Ter	coding	Pathogenic
7	92234451	G	T	G92234451T	KRIT1	NM_194456.1(KRIT1):c.987C>A:p.Cys329Ter	coding	Pathogenic
7	92234536	G	C	G92234536C	KRIT1	NM_194456.1(KRIT1):c.902C>G:p.Ser301Ter	coding	Pathogenic
7	92234558	G	A	G92234558A	KRIT1	NM_194456.1(KRIT1):c.880C>T:p.Arg294Ter	coding	Pathogenic
7	92234798	G	A	G92234798A	KRIT1	NM_194456.1(KRIT1):c.845+10C>T	noncoding	Benign/Likely_benign
7	92234806	A	T	A92234806T	KRIT1	NM_194456.1(KRIT1):c.845+2T>A	noncoding	Pathogenic/Likely_pathogenic
7	92234807	C	T	C92234807T	KRIT1	NM_194456.1(KRIT1):c.845+1G>A	noncoding	Pathogenic
7	92234841	C	T	C92234841T	KRIT1	NM_194456.1(KRIT1):c.812G>A:p.Trp271Ter	coding	Pathogenic
7	92234851	G	A	G92234851A	KRIT1	NM_194456.1(KRIT1):c.802C>T:p.Gln268Ter	coding	Pathogenic
7	92234871	G	C	G92234871C	KRIT1	NM_194456.1(KRIT1):c.782C>G:p.Ser261Ter	coding	Pathogenic
7	92234923	C	A	C92234923A	KRIT1	NM_194456.1(KRIT1):c.730G>T:p.Val244Leu	coding	Pathogenic
7	92234924	C	G	C92234924G	KRIT1	NM_194456.1(KRIT1):c.730-1G>C	coding	Pathogenic/Likely_pathogenic
7	92234924	C	T	C92234924T	KRIT1	NM_194456.1(KRIT1):c.730-1G>A	coding	Pathogenic
7	92234925	T	C	T92234925C	KRIT1	NM_194456.1(KRIT1):c.730-2A>G	noncoding	Pathogenic
7	92235401	A	G	A92235401G	KRIT1	NM_194456.1(KRIT1):c.729+2T>C	noncoding	Pathogenic
7	92235402	C	T	C92235402T	KRIT1	NM_194456.1(KRIT1):c.729+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	92235417	G	A	G92235417A	KRIT1	NM_194456.1(KRIT1):c.715C>T:p.Gln239Ter	coding	Pathogenic/Likely_pathogenic
7	92235442	G	C	G92235442C	KRIT1	NM_194456.1(KRIT1):c.690C>G:p.Tyr230Ter	coding	Pathogenic
7	92235531	G	C	G92235531C	KRIT1	NM_194456.1(KRIT1):c.601C>G:p.Gln201Glu	coding	Pathogenic
7	92235597	G	A	G92235597A	KRIT1	NM_194454.3(KRIT1):c.535C>T:p.Arg179Ter	coding	Pathogenic
7	92235647	C	T	C92235647T	KRIT1	NM_194456.1(KRIT1):c.486-1G>A	coding	Pathogenic
7	92235648	T	C	T92235648C	KRIT1	NM_194456.1(KRIT1):c.486-2A>G	noncoding	Pathogenic
7	92236480	G	A	G92236480A	KRIT1	NM_194456.1(KRIT1):c.418C>T:p.Arg140Ter	coding	Pathogenic
7	92236488	T	C	T92236488C	KRIT1	NM_194456.1(KRIT1):c.410A>G:p.Asp137Gly	coding	Pathogenic
7	92237720	C	A	C92237720A	KRIT1	NM_194456.1(KRIT1):c.302G>T:p.Gly101Val	coding	Benign/Likely_benign
7	92237754	G	A	G92237754A	KRIT1	NM_194456.1(KRIT1):c.268C>T:p.Arg90Ter	coding	Pathogenic
7	92240925	T	C	T92240925C	KRIT1	NM_194456.1(KRIT1):c.262+68A>G	noncoding	Benign
7	92241059	G	A	G92241059A	KRIT1	NM_194456.1(KRIT1):c.196C>T:p.Gln66Ter	coding	Pathogenic
7	92242135	T	C	T92242135C	KRIT1	NM_194456.1(KRIT1):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
7	92242144	A	G	A92242144G	KRIT1	NM_194456.1(KRIT1):c.-2-7T>C	noncoding	Benign/Likely_benign
7	92244042	G	A	G92244042A	KRIT1	NM_194456.1(KRIT1):c.-43C>T	noncoding	Benign/Likely_benign
7	92245063	T	C	T92245063C	KRIT1	NM_194456.1(KRIT1):c.-312A>G	noncoding	Benign/Likely_benign
7	92245107	C	T	C92245107T	KRIT1	NM_194456.1(KRIT1):c.-356G>A	noncoding	Benign/Likely_benign
7	92245894	C	A	C92245894A	KRIT1	NM_194456.1(KRIT1):c.-590+12G>T	noncoding	Benign
7	92245996	C	T	C92245996T	KRIT1	NM_019004.2(ANKIB1):c.-614C>T	noncoding	Benign
7	92246005	T	C	T92246005C	KRIT1	NM_019004.2(ANKIB1):c.-605T>C	noncoding	Benign/Likely_benign
7	92246017	G	A	G92246017A	KRIT1	NM_019004.2(ANKIB1):c.-593G>A	noncoding	Benign/Likely_benign
7	92246057	G	A	G92246057A	KRIT1	NM_019004.2(ANKIB1):c.-553G>A	noncoding	Benign
7	92398908	C	G	C92398908G	ANKIB1	NM_019004.2(ANKIB1):c.3229C>G:p.Gln1077Glu	coding	Benign
7	92447777	G	A	G92447777A	GATAD1	NM_021167.5(GATAD1):c.48G>A:p.Ser16=	coding	Benign/Likely_benign
7	92447889	G	A	G92447889A	GATAD1	NM_021167.5(GATAD1):c.160G>A:p.Gly54Ser	coding	Benign
7	92447993	C	T	C92447993T	GATAD1	NM_021167.5(GATAD1):c.249+15C>T	noncoding	Benign
7	92447998	C	G	C92447998G	GATAD1	NM_021167.5(GATAD1):c.249+20C>G	noncoding	Benign
7	92448073	C	G	C92448073G	GATAD1	NM_021167.5(GATAD1):c.249+95C>G	noncoding	Benign
7	92448778	T	G	T92448778G	GATAD1	NM_021167.5(GATAD1):c.276T>G:p.Ser92=	coding	Benign/Likely_benign
7	92448806	T	C	T92448806C	GATAD1	NM_021167.5(GATAD1):c.304T>C:p.Ser102Pro	coding	Pathogenic
7	92454268	C	G	C92454268G	GATAD1	NM_021167.5(GATAD1):c.436-234C>G	noncoding	Benign
7	92454624	G	A	G92454624A	GATAD1	NM_021167.5(GATAD1):c.558G>A:p.Thr186=	coding	Benign/Likely_benign
7	92456449	C	T	C92456449T	GATAD1	NM_021167.5(GATAD1):c.697C>T:p.Arg233Trp	coding	Benign
7	92456514	G	A	G92456514A	GATAD1	NM_021167.5(GATAD1):c.762G>A:p.Gly254=	coding	Benign/Likely_benign
7	92489310	C	T	C92489310T	PEX1	NM_000466.3(PEX1):c.3750G>A:p.Trp1250Ter	coding	Pathogenic
7	92489340	G	A	G92489340A	PEX1	NM_000466.3(PEX1):c.3720C>T:p.His1240=	coding	Benign/Likely_benign
7	92489776	G	A	G92489776A	PEX1	NM_000466.3(PEX1):c.3574C>T:p.Gln1192Ter	coding	Pathogenic
7	92491284	G	A	G92491284A	PEX1	NM_000466.3(PEX1):c.3426C>T:p.Thr1142=	coding	Benign/Likely_benign
7	92491503	C	T	C92491503T	PEX1	NM_000466.3(PEX1):c.3208-1G>A	coding	Pathogenic/Likely_pathogenic
7	92492955	G	A	G92492955A	PEX1	NM_000466.3(PEX1):c.3205C>T:p.Gln1069Ter	coding	Pathogenic
7	92494331	G	A	G92494331A	PEX1	NM_000466.3(PEX1):c.2992C>T:p.Arg998Ter	coding	Pathogenic/Likely_pathogenic
7	92494485	A	G	A92494485G	PEX1	NM_000466.3(PEX1):c.2926+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	92494486	C	T	C92494486T	PEX1	NM_000466.3(PEX1):c.2926+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	92494512	C	T	C92494512T	PEX1	NM_000466.3(PEX1):c.2901G>A:p.Gln967=	coding	Benign
7	92494538	G	A	G92494538A	PEX1	NM_000466.3(PEX1):c.2875C>T:p.Arg959Ter	coding	Pathogenic/Likely_pathogenic
7	92494652	C	T	C92494652T	PEX1	NM_000466.3(PEX1):c.2784-23G>A	noncoding	Benign
7	92499701	T	C	T92499701C	PEX1	NM_000466.3(PEX1):c.2718+3A>G	noncoding	Benign/Likely_benign
7	92499736	G	A	G92499736A	PEX1	NM_000466.3(PEX1):c.2686C>T:p.Arg896Ter	coding	Pathogenic/Likely_pathogenic
7	92499808	G	A	G92499808A	PEX1	NM_000466.3(PEX1):c.2614C>T:p.Arg872Ter	coding	Pathogenic
7	92499858	A	T	A92499858T	PEX1	NM_000466.3(PEX1):c.2584-20T>A	noncoding	Benign
7	92501562	C	T	C92501562T	PEX1	NM_000466.3(PEX1):c.2528G>A:p.Gly843Asp	coding	Pathogenic
7	92501611	G	A	G92501611A	PEX1	NM_000466.3(PEX1):c.2479C>T:p.Arg827Ter	coding	Pathogenic
7	92501923	G	A	G92501923A	PEX1	NM_000466.3(PEX1):c.2383C>T:p.Arg795Ter	coding	Pathogenic/Likely_pathogenic
7	92501938	G	A	G92501938A	PEX1	NM_000466.3(PEX1):c.2368C>T:p.Arg790Ter	coding	Pathogenic
7	92501975	G	T	G92501975T	PEX1	NM_000466.3(PEX1):c.2331C>A:p.Gly777=	coding	Benign
7	92502035	C	G	C92502035G	PEX1	NM_000466.3(PEX1):c.2271G>C:p.Leu757Phe	coding	Benign
7	92502076	G	A	G92502076A	PEX1	NM_000466.3(PEX1):c.2230C>T:p.Gln744Ter	coding	Pathogenic/Likely_pathogenic
7	92503039	A	G	A92503039G	PEX1	NM_000466.3(PEX1):c.2226+2T>C	noncoding	Pathogenic
7	92503179	T	C	T92503179C	PEX1	NM_000466.3(PEX1):c.2088A>G:p.Ile696Met	coding	Benign
7	92504731	C	A	C92504731A	PEX1	NM_000466.3(PEX1):c.2071+1G>T	noncoding	Pathogenic
7	92506331	G	C	G92506331C	PEX1	NM_000466.3(PEX1):c.1817C>G:p.Ser606Ter	coding	Pathogenic
7	92506372	C	T	C92506372T	PEX1	NM_000466.3(PEX1):c.1804-28G>A	noncoding	Benign
7	92506993	C	A	C92506993A	PEX1	NM_000466.3(PEX1):c.1803+1G>T	noncoding	Pathogenic
7	92507000	T	C	T92507000C	PEX1	NM_000466.3(PEX1):c.1797A>G:p.Gly599=	coding	Benign/Likely_benign
7	92507055	C	G	C92507055G	PEX1	NM_000466.3(PEX1):c.1742G>C:p.Arg581Pro	coding	Pathogenic
7	92507133	A	G	A92507133G	PEX1	NM_000466.3(PEX1):c.1671-7T>C	noncoding	Benign/Likely_benign
7	92511010	C	G	C92511010G	PEX1	NM_000466.3(PEX1):c.1521G>C:p.Trp507Cys	coding	Benign
7	92511579	C	T	C92511579T	PEX1	NM_000466.3(PEX1):c.1483+1G>A	noncoding	Pathogenic
7	92513939	T	C	T92513939C	PEX1	NM_000466.3(PEX1):c.1268A>G:p.Asn423Ser	coding	Benign
7	92517275	C	A	C92517275A	PEX1	NM_000466.3(PEX1):c.1239+1G>T	noncoding	Pathogenic
7	92517352	C	T	C92517352T	PEX1	NM_000466.3(PEX1):c.1163G>A:p.Trp388Ter	coding	Pathogenic
7	92517373	G	T	G92517373T	PEX1	NM_000466.3(PEX1):c.1142C>A:p.Ala381Asp	coding	Benign/Likely_benign
7	92517430	G	A	G92517430A	PEX1	NM_000466.3(PEX1):c.1085C>T:p.Ser362Leu	coding	Benign/Likely_benign
7	92517438	C	T	C92517438T	PEX1	NM_000466.3(PEX1):c.1077G>A:p.Lys359=	coding	Benign/Likely_benign
7	92517703	T	C	T92517703C	PEX1	NM_000466.3(PEX1):c.812A>G:p.Asn271Ser	coding	Benign
7	92517946	G	T	G92517946T	PEX1	NM_000466.3(PEX1):c.569C>A:p.Ser190Ter	coding	Pathogenic/Likely_pathogenic
7	92517968	G	A	G92517968A	PEX1	NM_000466.3(PEX1):c.547C>T:p.Arg183Ter	coding	Pathogenic/Likely_pathogenic
7	92518045	G	A	G92518045A	PEX1	NM_000466.3(PEX1):c.473-3C>T	noncoding	Benign
7	92518060	C	T	C92518060T	PEX1	NM_000466.3(PEX1):c.473-18G>A	noncoding	Benign
7	92518210	G	A	G92518210A	PEX1	NM_000466.3(PEX1):c.403C>T:p.Arg135Ter	coding	Pathogenic
7	92518256	C	A	C92518256A	PEX1	NM_000466.3(PEX1):c.358-1G>T	coding	Pathogenic/Likely_pathogenic
7	92518266	C	G	C92518266G	PEX1	NM_000466.3(PEX1):c.358-11G>C	noncoding	Benign
7	92518270	C	T	C92518270T	PEX1	NM_000466.3(PEX1):c.358-15G>A	noncoding	Benign
7	92522246	C	A	C92522246A	PEX1	NM_000466.3(PEX1):c.130-1G>T	coding	Pathogenic
7	92522247	T	C	T92522247C	PEX1	NM_000466.3(PEX1):c.130-2A>G	noncoding	Pathogenic
7	92528431	C	T	C92528431T	PEX1	NM_000466.3(PEX1):c.5G>A:p.Trp2Ter	coding	Pathogenic/Likely_pathogenic
7	92528434	A	C	A92528434C	PEX1	NM_000466.3(PEX1):c.2T>G:p.Met1Arg	coding	Pathogenic/Likely_pathogenic
7	92528434	A	G	A92528434G	PEX1	NM_000466.3(PEX1):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
7	92528435	T	A	T92528435A	PEX1	NM_000466.3(PEX1):c.1A>T:p.Met1Leu	coding	Pathogenic
7	92528435	T	G	T92528435G	PEX1	NM_000466.3(PEX1):c.1A>C:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
7	92528488	G	C	G92528488C	PEX1	NM_000466.3(PEX1):c.-53C>G	noncoding	Benign/Likely_benign
7	92528572	A	G	A92528572G	PEX1	NM_000466.2(PEX1):c.-137T>C	noncoding	Benign/Likely_benign
7	92528821	C	T	C92528821T	RBM48	NM_032120.4(RBM48):c.8C>T:p.Ser3Leu	coding	Benign
7	92534973	A	G	A92534973G	RBM48	NM_032120.4(RBM48):c.1017+3A>G	noncoding	Benign
7	92615172	T	A	T92615172A	CDK6	NM_001259.8(CDK6):c.949A>T:p.Ser317Cys	coding	Benign
7	92623083	A	G	A92623083G	CDK6	NM_001145306.2(CDK6):c.651T>C:p.Pro217=	coding	Benign
7	92671484	C	T	C92671484T	CDK6	NM_001259.8(CDK6):c.589G>A:p.Ala197Thr	coding	Pathogenic
7	92725719	T	A	T92725719A	CDK6	NM_001145306.2(CDK6):c.444A>T:p.Pro148=	coding	Benign
7	93101365	A	G	A93101365G	SAMD9	NM_017654.4(SAMD9):c.4733T>C:p.Ile1578Thr	coding	Benign
7	93101432	C	T	C93101432T	SAMD9	NM_017654.4(SAMD9):c.4666G>A:p.Ala1556Thr	coding	Benign
7	93101537	C	T	C93101537T	SAMD9	NM_017654.4(SAMD9):c.4561G>A:p.Glu1521Lys	coding	Benign
7	93101615	T	C	T93101615C	SAMD9	NM_017654.4(SAMD9):c.4483A>G:p.Lys1495Glu	coding	Pathogenic
7	93102221	G	A	G93102221A	SAMD9	NM_017654.4(SAMD9):c.3877C>T:p.Arg1293Trp	coding	Pathogenic
7	93103153	C	T	C93103153T	SAMD9	NM_017654.4(SAMD9):c.2945G>A:p.Arg982His	coding	Pathogenic/Likely_pathogenic
7	93103178	C	T	C93103178T	SAMD9	NM_017654.4(SAMD9):c.2920G>A:p.Glu974Lys	coding	Pathogenic
7	93103418	T	C	T93103418C	SAMD9	NM_017654.4(SAMD9):c.2680A>G:p.Lys894Glu	coding	Benign
7	93103628	G	A	G93103628A	SAMD9	NM_017654.4(SAMD9):c.2470C>T:p.Arg824Ter	coding	Pathogenic
7	93103793	C	T	C93103793T	SAMD9	NM_017654.4(SAMD9):c.2305G>A:p.Asp769Asn	coding	Pathogenic
7	93104178	G	A	G93104178A	SAMD9	NM_017654.4(SAMD9):c.1920C>T:p.Val640=	coding	Benign
7	93104238	T	C	T93104238C	SAMD9	NM_017654.4(SAMD9):c.1860A>G:p.Lys620=	coding	Benign
7	93104700	T	G	T93104700G	SAMD9	NM_017654.4(SAMD9):c.1398A>C:p.Pro466=	coding	Benign
7	93104722	C	T	C93104722T	SAMD9	NM_017654.4(SAMD9):c.1376G>A:p.Arg459Gln	coding	Pathogenic
7	93104751	A	G	A93104751G	SAMD9	NM_017654.4(SAMD9):c.1347T>C:p.Asn449=	coding	Benign
7	93105068	G	A	G93105068A	SAMD9	NM_017654.4(SAMD9):c.1030C>T:p.Arg344Ter	coding	Pathogenic
7	93105103	A	G	A93105103G	SAMD9	NM_017654.4(SAMD9):c.995T>C:p.Ile332Thr	coding	Benign/Likely_benign
7	93105333	A	G	A93105333G	SAMD9	NM_017654.4(SAMD9):c.765T>C:p.Asp255=	coding	Benign
7	93105841	G	A	G93105841A	SAMD9	NM_017654.4(SAMD9):c.257C>T:p.Ser86Phe	coding	Benign
7	93131510	C	T	C93131510T	SAMD9L	NM_152703.5(SAMD9L):c.4462G>A:p.Val1488Ile	coding	Benign
7	93131578	C	T	C93131578T	SAMD9L	NM_152703.5(SAMD9L):c.4394G>A:p.Arg1465His	coding	Benign
7	93131802	C	T	C93131802T	SAMD9L	NM_152703.5(SAMD9L):c.4170G>A:p.Leu1390=	coding	Benign
7	93132008	A	G	A93132008G	SAMD9L	NM_152703.5(SAMD9L):c.3964T>C:p.Leu1322=	coding	Benign
7	93132385	C	G	C93132385G	SAMD9L	NM_152703.5(SAMD9L):c.3587G>C:p.Cys1196Ser	coding	Pathogenic/Likely_pathogenic
7	93132405	A	G	A93132405G	SAMD9L	NM_152703.5(SAMD9L):c.3567T>C:p.Tyr1189=	coding	Benign
7	93132687	T	C	T93132687C	SAMD9L	NM_152703.5(SAMD9L):c.3285A>G:p.Lys1095=	coding	Benign
7	93132870	A	G	A93132870G	SAMD9L	NM_152703.5(SAMD9L):c.3102T>C:p.Asp1034=	coding	Benign
7	93132944	G	C	G93132944C	SAMD9L	NM_152703.5(SAMD9L):c.3028C>G:p.Gln1010Glu	coding	Benign
7	93132945	A	G	A93132945G	SAMD9L	NM_152703.5(SAMD9L):c.3027T>C:p.Cys1009=	coding	Benign
7	93133016	G	A	G93133016A	SAMD9L	NM_152703.5(SAMD9L):c.2956C>T:p.Arg986Cys	coding	Pathogenic
7	93133300	A	G	A93133300G	SAMD9L	NM_152703.5(SAMD9L):c.2672T>C:p.Ile891Thr	coding	Pathogenic
7	93133332	G	T	G93133332T	SAMD9L	NM_152703.5(SAMD9L):c.2640C>A:p.His880Gln	coding	Pathogenic/Likely_pathogenic
7	93133845	A	G	A93133845G	SAMD9L	NM_152703.5(SAMD9L):c.2127T>C:p.Phe709=	coding	Benign
7	93133977	T	G	T93133977G	SAMD9L	NM_152703.5(SAMD9L):c.1995A>C:p.Thr665=	coding	Benign
7	93134059	C	T	C93134059T	SAMD9L	NM_152703.5(SAMD9L):c.1913G>A:p.Arg638His	coding	Benign
7	93134064	G	A	G93134064A	SAMD9L	NM_152703.5(SAMD9L):c.1908C>T:p.Pro636=	coding	Benign
7	93134276	C	T	C93134276T	SAMD9L	NM_152703.5(SAMD9L):c.1696G>A:p.Ala566Thr	coding	Benign
7	93134469	T	C	T93134469C	SAMD9L	NM_152703.5(SAMD9L):c.1503A>G:p.Arg501=	coding	Benign
7	93134755	C	T	C93134755T	SAMD9L	NM_152703.5(SAMD9L):c.1217G>A:p.Arg406Gln	coding	Benign
7	93134756	G	A	G93134756A	SAMD9L	NM_152703.5(SAMD9L):c.1216C>T:p.Arg406Ter	coding	Benign
7	93134957	G	T	G93134957T	SAMD9L	NM_152703.5(SAMD9L):c.1015C>A:p.Leu339Ile	coding	Benign
7	93135277	C	T	C93135277T	SAMD9L	NM_152703.5(SAMD9L):c.695G>A:p.Arg232His	coding	Benign
7	93135588	A	G	A93135588G	SAMD9L	NM_152703.5(SAMD9L):c.384T>C:p.Asp128=	coding	Benign
7	93135686	A	G	A93135686G	SAMD9L	NM_152703.5(SAMD9L):c.286T>C:p.Ser96Pro	coding	Benign
7	93215506	G	A	G93215506A	HEPACAM2	NM_001039372.4(HEPACAM2):c.610C>T:p.Leu204Phe	coding	Benign
7	93225924	C	T	C93225924T	HEPACAM2	NM_001039372.4(HEPACAM2):c.79+444G>A	coding	Benign
7	93355899	A	G	A93355899G	VPS50	NM_017667.4(VPS50):c.2594A>G:p.Asn865Ser	coding	Benign
7	93355993	C	G	C93355993G	VPS50	NM_017667.4(VPS50):c.2688C>G:p.Pro896=	coding	Benign
7	93438087	G	T	G93438087T	CALCR	NM_001742.4(CALCR):c.903C>A:p.Ile301=	coding	Benign
7	93443641	C	T	C93443641T	CALCR	NM_001742.4(CALCR):c.765G>A:p.Glu255=	coding	Benign
7	93477671	G	A	G93477671A	CALCR	NM_001742.4(CALCR):c.206-3C>T	noncoding	Benign
7	93886846	G	A	G93886846A	TFPI2	NM_006528.4(TFPI2):c.682C>T:p.Arg228Trp	coding	Benign
7	93890129	G	A	G93890129A	TFPI2	NM_006528.4(TFPI2):c.271+8C>T	noncoding	Benign
7	93890146	T	G	T93890146G	TFPI2	NM_006528.4(TFPI2):c.262A>C:p.Arg88=	coding	Benign
7	94394334	C	A	C94394334A	COL1A2	NM_000089.3(COL1A2):c.-698C>A	noncoding	Benign
7	94394745	C	T	C94394745T	COL1A2	NM_000089.3(COL1A2):c.-287C>T	noncoding	Benign
7	94395079	C	T	C94395079T	COL1A2	NM_000089.3(COL1A2):c.48C>T:p.Thr16=	coding	Benign/Likely_benign
7	94395083	T	G	T94395083G	COL1A2	NM_000089.3(COL1A2):c.52T>G:p.Cys18Gly	coding	Benign
7	94395818	A	G	A94395818G	COL1A2	NM_000089.3(COL1A2):c.70+717A>G	noncoding	Pathogenic
7	94398370	A	G	A94398370G	COL1A2	NM_000089.3(COL1A2):c.82-12A>G	noncoding	Benign
7	94398387	T	C	T94398387C	COL1A2	NM_000089.3(COL1A2):c.87T>C:p.Thr29=	coding	Benign
7	94398406	C	T	C94398406T	COL1A2	NM_000089.3(COL1A2):c.96+10C>T	noncoding	Benign/Likely_benign
7	94399074	G	A	G94399074A	COL1A2	NM_000089.3(COL1A2):c.122G>A:p.Arg41His	coding	Benign/Likely_benign
7	94401561	C	A	C94401561A	COL1A2	NM_000089.4(COL1A2):c.226-6C>A	noncoding	Benign
7	94401565	A	G	A94401565G	COL1A2	NM_000089.3(COL1A2):c.226-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	94401566	G	C	G94401566C	COL1A2	NM_000089.3(COL1A2):c.226-1G>C	noncoding	Pathogenic
7	94401566	G	T	G94401566T	COL1A2	NM_000089.3(COL1A2):c.226-1G>T	noncoding	Pathogenic
7	94401587	T	C	T94401587C	COL1A2	NM_000089.3(COL1A2):c.246T>C:p.Asp82=	coding	Benign
7	94401620	G	A	G94401620A	COL1A2	NM_000089.3(COL1A2):c.279G>A:p.Met93Ile	coding	Pathogenic
7	94401621	G	A	G94401621A	COL1A2	NM_000089.4(COL1A2):c.279+1G>A	coding	Pathogenic
7	94401622	T	C	T94401622C	COL1A2	NM_000089.3(COL1A2):c.279+2T>C	noncoding	Pathogenic
7	94404488	A	G	A94404488G	COL1A2	NM_000089.3(COL1A2):c.280-68A>G	noncoding	Benign
7	94404574	G	A	G94404574A	COL1A2	NM_000089.3(COL1A2):c.298G>A:p.Gly100Ser	coding	Pathogenic
7	94404694	G	A	G94404694A	COL1A2	NM_000089.3(COL1A2):c.326G>A:p.Gly109Asp	coding	Pathogenic
7	94404703	G	A	G94404703A	COL1A2	NM_000089.4(COL1A2):c.335G>A:p.Gly112Asp	coding	Pathogenic
7	94404711	G	A	G94404711A	COL1A2	NM_000089.4(COL1A2):c.343G>A:p.Gly115Arg	coding	Pathogenic
7	94404721	G	T	G94404721T	COL1A2	NM_000089.4(COL1A2):c.353G>T:p.Gly118Val	coding	Pathogenic
7	94404739	G	A	G94404739A	COL1A2	NM_000089.3(COL1A2):c.371G>A:p.Gly124Asp	coding	Pathogenic
7	94404849	G	A	G94404849A	COL1A2	NM_000089.3(COL1A2):c.389G>A:p.Gly130Asp	coding	Pathogenic
7	94404849	G	T	G94404849T	COL1A2	NM_000089.3(COL1A2):c.389G>T:p.Gly130Val	coding	Pathogenic
7	94404867	G	A	G94404867A	COL1A2	NM_000089.3(COL1A2):c.407G>A:p.Gly136Asp	coding	Pathogenic
7	94404893	G	A	G94404893A	COL1A2	NM_000089.3(COL1A2):c.432+1G>A	coding	Pathogenic/Likely_pathogenic
7	94404893	G	T	G94404893T	COL1A2	NM_000089.4(COL1A2):c.432+1G>T	coding	Pathogenic
7	94405377	C	T	C94405377T	COL1A2	NM_000089.3(COL1A2):c.486+125C>T	noncoding	Benign
7	94405731	G	A	G94405731A	COL1A2	NM_000089.4(COL1A2):c.540+5G>A	noncoding	Pathogenic
7	94406286	G	A	G94406286A	COL1A2	NM_000089.3(COL1A2):c.577G>A:p.Gly193Ser	coding	Pathogenic
7	94406291	T	G	T94406291G	COL1A2	NM_000089.3(COL1A2):c.582T>G:p.Ala194=	coding	Benign
7	94406295	G	A	G94406295A	COL1A2	NM_000089.3(COL1A2):c.586G>A:p.Gly196Ser	coding	Pathogenic
7	94406295	G	T	G94406295T	COL1A2	NM_000089.3(COL1A2):c.586G>T:p.Gly196Cys	coding	Pathogenic
7	94406580	C	T	C94406580T	COL1A2	NM_000089.3(COL1A2):c.594+277C>T	noncoding	Benign
7	94408334	A	C	A94408334C	COL1A2	NM_000089.3(COL1A2):c.694-2A>C	noncoding	Pathogenic
7	94408770	G	T	G94408770T	COL1A2	NM_000089.3(COL1A2):c.739G>T:p.Gly247Cys	coding	Pathogenic/Likely_pathogenic
7	94408798	G	T	G94408798T	COL1A2	NM_000089.3(COL1A2):c.767G>T:p.Gly256Val	coding	Pathogenic
7	94408806	G	T	G94408806T	COL1A2	NM_000089.3(COL1A2):c.775G>T:p.Gly259Cys	coding	Pathogenic
7	94408814	T	C	T94408814C	COL1A2	NM_000089.3(COL1A2):c.783T>C:p.Pro261=	coding	Benign/Likely_benign
7	94409322	G	C	G94409322C	COL1A2	NM_000089.3(COL1A2):c.793G>C:p.Gly265Arg	coding	Pathogenic
7	94409323	G	A	G94409323A	COL1A2	NM_000089.3(COL1A2):c.794G>A:p.Gly265Asp	coding	Pathogenic
7	94409337	G	A	G94409337A	COL1A2	NM_000089.3(COL1A2):c.808G>A:p.Val270Ile	coding	Benign/Likely_benign
7	94409367	G	A	G94409367A	COL1A2	NM_000089.3(COL1A2):c.838G>A:p.Gly280Ser	coding	Pathogenic
7	94409385	G	A	G94409385A	COL1A2	NM_000089.3(COL1A2):c.856G>A:p.Gly286Ser	coding	Pathogenic
7	94409403	G	A	G94409403A	COL1A2	NM_000089.3(COL1A2):c.874G>A:p.Gly292Ser	coding	Pathogenic
7	94409403	G	C	G94409403C	COL1A2	NM_000089.3(COL1A2):c.874G>C:p.Gly292Arg	coding	Pathogenic
7	94409404	G	T	G94409404T	COL1A2	NM_000089.3(COL1A2):c.875G>T:p.Gly292Val	coding	Pathogenic
7	94409551	C	G	C94409551G	COL1A2	NM_000089.3(COL1A2):c.892-13C>G	noncoding	Benign
7	94409592	G	A	G94409592A	COL1A2	NM_000089.3(COL1A2):c.920G>A:p.Gly307Asp	coding	Pathogenic
7	94409622	C	T	C94409622T	COL1A2	NM_000089.3(COL1A2):c.936+14C>T	noncoding	Benign
7	94409654	G	A	G94409654A	COL1A2	NM_000089.3(COL1A2):c.936+46G>A	noncoding	Benign
7	94409720	C	T	C94409720T	COL1A2	NM_000089.3(COL1A2):c.937-3C>T	noncoding	Benign
7	94409732	G	A	G94409732A	COL1A2	NM_000089.3(COL1A2):c.946G>A:p.Gly316Ser	coding	Pathogenic
7	94409734	C	T	C94409734T	COL1A2	NM_000089.3(COL1A2):c.948C>T:p.Gly316=	coding	Benign/Likely_benign
7	94409742	G	A	G94409742A	COL1A2	NM_000089.3(COL1A2):c.956G>A:p.Gly319Glu	coding	Pathogenic
7	94409750	G	A	G94409750A	COL1A2	NM_000089.3(COL1A2):c.964G>A:p.Gly322Ser	coding	Pathogenic/Likely_pathogenic
7	94409761	A	T	A94409761T	COL1A2	NM_000089.3(COL1A2):c.975A>T:p.Gly325=	coding	Benign
7	94409767	C	T	C94409767T	COL1A2	NM_000089.3(COL1A2):c.981C>T:p.Arg327=	coding	Benign/Likely_benign
7	94409768	G	A	G94409768A	COL1A2	NM_000089.3(COL1A2):c.982G>A:p.Gly328Ser	coding	Pathogenic
7	94409769	G	A	G94409769A	COL1A2	NM_000089.3(COL1A2):c.983G>A:p.Gly328Asp	coding	Pathogenic
7	94409769	G	T	G94409769T	COL1A2	NM_000089.3(COL1A2):c.983G>T:p.Gly328Val	coding	Pathogenic
7	94409778	G	A	G94409778A	COL1A2	NM_000089.3(COL1A2):c.992G>A:p.Gly331Asp	coding	Pathogenic
7	94409795	G	A	G94409795A	COL1A2	NM_000089.3(COL1A2):c.1009G>A:p.Gly337Ser	coding	Pathogenic
7	94409875	A	G	A94409875G	COL1A2	NM_000089.3(COL1A2):c.1035+54A>G	noncoding	Benign
7	94410228	G	A	G94410228A	COL1A2	NM_000089.3(COL1A2):c.1036-14G>A	noncoding	Benign
7	94410230	A	G	A94410230G	COL1A2	NM_000089.3(COL1A2):c.1036-12A>G	noncoding	Benign/Likely_benign
7	94410260	G	A	G94410260A	COL1A2	NM_000089.3(COL1A2):c.1054G>A:p.Gly352Ser	coding	Pathogenic
7	94410278	G	A	G94410278A	COL1A2	NM_000089.3(COL1A2):c.1072G>A:p.Gly358Ser	coding	Pathogenic
7	94410429	G	T	G94410429T	COL1A2	NM_000089.3(COL1A2):c.1099G>T:p.Gly367Trp	coding	Pathogenic
7	94410438	G	T	G94410438T	COL1A2	NM_000089.3(COL1A2):c.1108G>T:p.Gly370Cys	coding	Pathogenic
7	94410439	G	T	G94410439T	COL1A2	NM_000089.3(COL1A2):c.1109G>T:p.Gly370Val	coding	Pathogenic
7	94410457	G	T	G94410457T	COL1A2	NM_000089.3(COL1A2):c.1127G>T:p.Gly376Val	coding	Pathogenic
7	94410466	G	A	G94410466A	COL1A2	NM_000089.3(COL1A2):c.1136G>A:p.Gly379Glu	coding	Pathogenic
7	94410466	G	C	G94410466C	COL1A2	NM_000089.3(COL1A2):c.1136G>C:p.Gly379Ala	coding	Pathogenic
7	94410483	G	A	G94410483A	COL1A2	NM_000089.4(COL1A2):c.1153G>A:p.Gly385Arg	coding	Pathogenic
7	94410492	G	C	G94410492C	COL1A2	NM_000089.3(COL1A2):c.1162G>C:p.Gly388Arg	coding	Pathogenic
7	94410501	G	A	G94410501A	COL1A2	NM_000089.3(COL1A2):c.1171G>A:p.Gly391Ser	coding	Pathogenic
7	94410501	G	T	G94410501T	COL1A2	NM_000089.4(COL1A2):c.1171G>T:p.Gly391Cys	coding	Pathogenic
7	94410532	G	A	G94410532A	COL1A2	NM_000089.3(COL1A2):c.1197+5G>A	noncoding	Pathogenic
7	94410588	C	T	C94410588T	COL1A2	NM_000089.3(COL1A2):c.1197+61C>T	noncoding	Benign
7	94410821	T	A	T94410821A	COL1A2	NM_000089.3(COL1A2):c.1198-68T>A	noncoding	Benign
7	94410899	G	A	G94410899A	COL1A2	NM_000089.3(COL1A2):c.1208G>A:p.Gly403Asp	coding	Pathogenic
7	94410907	G	A	G94410907A	COL1A2	NM_000089.3(COL1A2):c.1216G>A:p.Gly406Ser	coding	Pathogenic
7	94410975	G	A	G94410975A	COL1A2	NM_000089.3(COL1A2):c.1251+33G>A	noncoding	Benign
7	94411056	G	A	G94411056A	COL1A2	NM_000089.4(COL1A2):c.1252G>A:p.Gly418Ser	coding	Pathogenic
7	94411066	G	A	G94411066A	COL1A2	NM_000089.3(COL1A2):c.1262G>A:p.Gly421Asp	coding	Pathogenic
7	94411074	G	A	G94411074A	COL1A2	NM_000089.4(COL1A2):c.1270G>A:p.Gly424Ser	coding	Pathogenic
7	94411093	G	A	G94411093A	COL1A2	NM_000089.4(COL1A2):c.1289G>A:p.Gly430Glu	coding	Pathogenic
7	94411119	G	T	G94411119T	COL1A2	NM_000089.4(COL1A2):c.1315G>T:p.Gly439Cys	coding	Pathogenic
7	94411120	G	A	G94411120A	COL1A2	NM_000089.3(COL1A2):c.1316G>A:p.Gly439Asp	coding	Pathogenic
7	94411128	G	A	G94411128A	COL1A2	NM_000089.3(COL1A2):c.1324G>A:p.Gly442Arg	coding	Pathogenic
7	94411146	G	C	G94411146C	COL1A2	NM_000089.3(COL1A2):c.1342G>C:p.Gly448Arg	coding	Pathogenic/Likely_pathogenic
7	94412077	G	T	G94412077T	COL1A2	NM_000089.3(COL1A2):c.1360G>T:p.Gly454Cys	coding	Pathogenic
7	94412095	G	A	G94412095A	COL1A2	NM_000089.3(COL1A2):c.1378G>A:p.Gly460Ser	coding	Pathogenic
7	94412100	C	T	C94412100T	COL1A2	NM_000089.3(COL1A2):c.1383C>T:p.Pro461=	coding	Benign/Likely_benign
7	94412122	G	A	G94412122A	COL1A2	NM_000089.3(COL1A2):c.1404+1G>A	coding	Pathogenic
7	94412122	G	C	G94412122C	COL1A2	NM_000089.4(COL1A2):c.1404+1G>C	coding	Pathogenic
7	94412585	G	C	G94412585C	COL1A2	NM_000089.3(COL1A2):c.1406G>C:p.Gly469Ala	coding	Pathogenic
7	94412593	G	T	G94412593T	COL1A2	NM_000089.3(COL1A2):c.1414G>T:p.Gly472Cys	coding	Pathogenic
7	94412625	A	C	A94412625C	COL1A2	NM_000089.3(COL1A2):c.1446A>C:p.Pro482=	coding	Benign
7	94412625	A	T	A94412625T	COL1A2	NM_000089.4(COL1A2):c.1446A>T:p.Pro482=	coding	Benign
7	94412638	G	A	G94412638A	COL1A2	NM_000089.4(COL1A2):c.1459G>A:p.Gly487Arg	coding	Pathogenic
7	94412657	G	A	G94412657A	COL1A2	NM_000089.3(COL1A2):c.1478G>A:p.Gly493Glu	coding	Pathogenic
7	94413083	G	A	G94413083A	COL1A2	NM_000089.3(COL1A2):c.1504G>A:p.Gly502Ser	coding	Pathogenic
7	94413092	G	A	G94413092A	COL1A2	NM_000089.3(COL1A2):c.1513G>A:p.Gly505Ser	coding	Pathogenic
7	94413129	G	A	G94413129A	COL1A2	NM_000089.3(COL1A2):c.1550G>A:p.Gly517Asp	coding	Pathogenic
7	94413139	A	G	A94413139G	COL1A2	NM_000089.3(COL1A2):c.1557+3A>G	noncoding	Pathogenic
7	94413922	G	A	G94413922A	COL1A2	NM_000089.3(COL1A2):c.1640G>A:p.Gly547Asp	coding	Pathogenic
7	94413927	C	G	C94413927G	COL1A2	NM_000089.4(COL1A2):c.1645C>G:p.Pro549Ala	coding	Benign
7	94413940	G	A	G94413940A	COL1A2	NM_000089.3(COL1A2):c.1658G>A:p.Gly553Asp	coding	Pathogenic
7	94413962	A	G	A94413962G	COL1A2	NM_000089.3(COL1A2):c.1665+15A>G	noncoding	Benign
7	94414181	G	A	G94414181A	COL1A2	NM_000089.3(COL1A2):c.1666-41G>A	noncoding	Benign
7	94414222	G	A	G94414222A	COL1A2	NM_000089.3(COL1A2):c.1666G>A:p.Gly556Ser	coding	Pathogenic
7	94414222	G	T	G94414222T	COL1A2	NM_000089.3(COL1A2):c.1666G>T:p.Gly556Cys	coding	Pathogenic
7	94414258	G	A	G94414258A	COL1A2	NM_000089.3(COL1A2):c.1702G>A:p.Gly568Ser	coding	Pathogenic
7	94414910	T	C	T94414910C	COL1A2	NM_000089.3(COL1A2):c.1720-316T>C	noncoding	Benign
7	94415245	G	A	G94415245A	COL1A2	NM_000089.3(COL1A2):c.1739G>A:p.Gly580Asp	coding	Pathogenic
7	94415263	G	T	G94415263T	COL1A2	NM_000089.3(COL1A2):c.1757G>T:p.Gly586Val	coding	Pathogenic
7	94416441	G	A	G94416441A	COL1A2	NM_000089.3(COL1A2):c.1801G>A:p.Gly601Ser	coding	Pathogenic
7	94416465	C	A	C94416465A	COL1A2	NM_000089.4(COL1A2):c.1825C>A:p.Arg609=	coding	Benign
7	94416487	G	T	G94416487T	COL1A2	NM_000089.3(COL1A2):c.1847G>T:p.Gly616Val	coding	Pathogenic
7	94417738	G	T	G94417738T	COL1A2	NM_000089.3(COL1A2):c.1878G>T:p.Val626=	coding	Benign
7	94417752	G	T	G94417752T	COL1A2	NM_000089.3(COL1A2):c.1892G>T:p.Gly631Val	coding	Pathogenic
7	94417796	G	T	G94417796T	COL1A2	NM_000089.3(COL1A2):c.1936G>T:p.Gly646Cys	coding	Pathogenic
7	94417797	G	T	G94417797T	COL1A2	NM_000089.3(COL1A2):c.1937G>T:p.Gly646Val	coding	Pathogenic
7	94417832	G	A	G94417832A	COL1A2	NM_000089.3(COL1A2):c.1971+1G>A	coding	Pathogenic
7	94417954	C	A	C94417954A	COL1A2	NM_000089.3(COL1A2):c.1971+123C>A	noncoding	Benign
7	94418508	G	A	G94418508A	COL1A2	NM_000089.3(COL1A2):c.1981G>A:p.Gly661Ser	coding	Pathogenic
7	94418518	G	T	G94418518T	COL1A2	NM_000089.3(COL1A2):c.1991G>T:p.Gly664Val	coding	Pathogenic
7	94418557	G	A	G94418557A	COL1A2	NM_000089.4(COL1A2):c.2025+5G>A	noncoding	Pathogenic
7	94418561	A	G	A94418561G	COL1A2	NM_000089.3(COL1A2):c.2025+9A>G	noncoding	Benign/Likely_benign
7	94418853	C	T	C94418853T	COL1A2	NM_000089.3(COL1A2):c.2025+301C>T	noncoding	Benign
7	94419180	C	G	C94419180G	COL1A2	NM_000089.3(COL1A2):c.2026-318C>G	noncoding	Benign
7	94419222	T	G	T94419222G	COL1A2	NM_000089.3(COL1A2):c.2026-276T>G	noncoding	Benign
7	94419233	G	A	G94419233A	COL1A2	NM_000089.3(COL1A2):c.2026-265G>A	noncoding	Benign
7	94419517	G	A	G94419517A	COL1A2	NM_000089.4(COL1A2):c.2045G>A:p.Gly682Asp	coding	Pathogenic
7	94419526	G	A	G94419526A	COL1A2	NM_000089.3(COL1A2):c.2054G>A:p.Gly685Asp	coding	Pathogenic
7	94419550	G	A	G94419550A	COL1A2	NM_000089.3(COL1A2):c.2078G>A:p.Arg693Gln	coding	Benign
7	94420233	G	C	G94420233C	COL1A2	NM_000089.3(COL1A2):c.2080G>C:p.Gly694Arg	coding	Pathogenic
7	94420235	C	A	C94420235A	COL1A2	NM_000089.3(COL1A2):c.2082C>A:p.Gly694=	coding	Benign/Likely_benign
7	94420251	G	C	G94420251C	COL1A2	NM_000089.3(COL1A2):c.2098G>C:p.Gly700Arg	coding	Pathogenic
7	94420251	G	T	G94420251T	COL1A2	NM_000089.3(COL1A2):c.2098G>T:p.Gly700Cys	coding	Pathogenic
7	94420252	G	A	G94420252A	COL1A2	NM_000089.3(COL1A2):c.2099G>A:p.Gly700Asp	coding	Pathogenic
7	94420292	T	A	T94420292A	COL1A2	NM_000089.3(COL1A2):c.2133+6T>A	noncoding	Pathogenic/Likely_pathogenic
7	94420420	C	T	C94420420T	COL1A2	NM_000089.3(COL1A2):c.2163C>T:p.Gly721=	coding	Benign/Likely_benign
7	94420541	G	A	G94420541A	COL1A2	NM_000089.4(COL1A2):c.2188G>A:p.Gly730Ser	coding	Pathogenic
7	94420568	G	A	G94420568A	COL1A2	NM_000089.4(COL1A2):c.2215G>A:p.Gly739Arg	coding	Pathogenic
7	94420604	G	A	G94420604A	COL1A2	NM_000089.3(COL1A2):c.2251G>A:p.Gly751Ser	coding	Pathogenic
7	94420605	G	T	G94420605T	COL1A2	NM_000089.4(COL1A2):c.2252G>T:p.Gly751Val	coding	Pathogenic
7	94420613	G	T	G94420613T	COL1A2	NM_000089.3(COL1A2):c.2260G>T:p.Gly754Cys	coding	Pathogenic/Likely_pathogenic
7	94420627	C	T	C94420627T	COL1A2	NM_000089.3(COL1A2):c.2274C>T:p.Pro758=	coding	Benign
7	94421009	G	A	G94421009A	COL1A2	NM_000089.3(COL1A2):c.2296G>A:p.Gly766Ser	coding	Pathogenic
7	94421009	G	C	G94421009C	COL1A2	NM_000089.4(COL1A2):c.2296G>C:p.Gly766Arg	coding	Pathogenic
7	94421018	G	T	G94421018T	COL1A2	NM_000089.4(COL1A2):c.2305G>T:p.Gly769Cys	coding	Pathogenic
7	94421027	G	A	G94421027A	COL1A2	NM_000089.3(COL1A2):c.2314G>A:p.Gly772Ser	coding	Pathogenic
7	94421045	G	A	G94421045A	COL1A2	NM_000089.3(COL1A2):c.2332G>A:p.Gly778Ser	coding	Pathogenic
7	94421054	G	C	G94421054C	COL1A2	NM_000089.4(COL1A2):c.2341G>C:p.Gly781Arg	coding	Pathogenic
7	94421055	G	A	G94421055A	COL1A2	NM_000089.3(COL1A2):c.2342G>A:p.Gly781Asp	coding	Pathogenic
7	94421055	G	T	G94421055T	COL1A2	NM_000089.3(COL1A2):c.2342G>T:p.Gly781Val	coding	Pathogenic
7	94421078	G	C	G94421078C	COL1A2	NM_000089.3(COL1A2):c.2349+16G>C	noncoding	Benign/Likely_benign
7	94421936	G	C	G94421936C	COL1A2	NM_000089.3(COL1A2):c.2387G>C:p.Gly796Ala	coding	Pathogenic
7	94421949	C	T	C94421949T	COL1A2	NM_000089.3(COL1A2):c.2400C>T:p.Pro800=	coding	Benign/Likely_benign
7	94422138	T	C	T94422138C	COL1A2	NM_000089.3(COL1A2):c.2403+186T>C	noncoding	Benign
7	94422958	G	C	G94422958C	COL1A2	NM_000089.3(COL1A2):c.2405G>C:p.Gly802Ala	coding	Pathogenic
7	94422967	G	A	G94422967A	COL1A2	NM_000089.3(COL1A2):c.2414G>A:p.Gly805Asp	coding	Pathogenic
7	94423056	G	A	G94423056A	COL1A2	NM_000089.3(COL1A2):c.2503G>A:p.Gly835Ser	coding	Pathogenic
7	94423074	G	A	G94423074A	COL1A2	NM_000089.3(COL1A2):c.2521G>A:p.Gly841Ser	coding	Pathogenic
7	94423079	C	T	C94423079T	COL1A2	NM_000089.4(COL1A2):c.2526C>T:p.Phe842=	coding	Benign/Likely_benign
7	94423102	G	A	G94423102A	COL1A2	NM_000089.3(COL1A2):c.2549G>A:p.Gly850Glu	coding	Pathogenic
7	94423116	G	A	G94423116A	COL1A2	NM_000089.3(COL1A2):c.2563G>A:p.Ala855Thr	coding	Benign
7	94423119	G	A	G94423119A	COL1A2	NM_000089.3(COL1A2):c.2565+1G>A	coding	Pathogenic
7	94423119	G	C	G94423119C	COL1A2	NM_000089.4(COL1A2):c.2565+1G>C	coding	Pathogenic
7	94423183	A	G	A94423183G	COL1A2	NM_000089.3(COL1A2):c.2565+65A>G	noncoding	Benign
7	94424330	A	G	A94424330G	COL1A2	NM_000089.3(COL1A2):c.2566-6A>G	noncoding	Benign/Likely_benign
7	94424337	G	A	G94424337A	COL1A2	NM_000089.3(COL1A2):c.2567G>A:p.Gly856Glu	coding	Pathogenic
7	94424339	C	A	C94424339A	COL1A2	NM_000089.4(COL1A2):c.2569C>A:p.Pro857Thr	coding	Benign/Likely_benign
7	94424345	G	A	G94424345A	COL1A2	NM_000089.3(COL1A2):c.2575G>A:p.Gly859Ser	coding	Pathogenic
7	94424363	G	A	G94424363A	COL1A2	NM_000089.3(COL1A2):c.2593G>A:p.Gly865Ser	coding	Pathogenic
7	94424444	G	A	G94424444A	COL1A2	NM_000089.3(COL1A2):c.2673+1G>A	coding	Pathogenic
7	94424911	C	T	C94424911T	COL1A2	NM_000089.3(COL1A2):c.2674-206C>T	noncoding	Benign
7	94425114	T	G	T94425114G	COL1A2	NM_000089.4(COL1A2):c.2674-3T>G	noncoding	Pathogenic
7	94425127	G	A	G94425127A	COL1A2	NM_000089.3(COL1A2):c.2684G>A:p.Gly895Asp	coding	Pathogenic
7	94425143	C	T	C94425143T	COL1A2	NM_000089.3(COL1A2):c.2700C>T:p.Ala900=	coding	Benign/Likely_benign
7	94425163	G	A	G94425163A	COL1A2	NM_000089.3(COL1A2):c.2720G>A:p.Gly907Asp	coding	Pathogenic
7	94425189	G	A	G94425189A	COL1A2	NM_000089.4(COL1A2):c.2746G>A:p.Gly916Arg	coding	Pathogenic
7	94425199	G	A	G94425199A	COL1A2	NM_000089.3(COL1A2):c.2756G>A:p.Gly919Asp	coding	Pathogenic
7	94425619	G	A	G94425619A	COL1A2	NM_000089.4(COL1A2):c.2791G>A:p.Gly931Arg	coding	Pathogenic
7	94425654	C	T	C94425654T	COL1A2	NM_000089.4(COL1A2):c.2826C>T:p.Pro942=	coding	Benign
7	94425664	G	A	G94425664A	COL1A2	NM_000089.3(COL1A2):c.2835+1G>A	coding	Pathogenic
7	94425759	G	A	G94425759A	COL1A2	NM_000089.3(COL1A2):c.2845G>A:p.Gly949Ser	coding	Pathogenic
7	94425775	T	C	T94425775C	COL1A2	NM_000089.3(COL1A2):c.2861T>C:p.Ile954Thr	coding	Benign/Likely_benign
7	94425805	G	A	G94425805A	COL1A2	NM_000089.3(COL1A2):c.2891G>A:p.Gly964Asp	coding	Pathogenic
7	94425832	G	T	G94425832T	COL1A2	NM_000089.3(COL1A2):c.2918G>T:p.Gly973Val	coding	Pathogenic
7	94425998	G	A	G94425998A	COL1A2	NM_000089.4(COL1A2):c.2944G>A:p.Gly982Ser	coding	Pathogenic
7	94426021	T	C	T94426021C	COL1A2	NM_000089.4(COL1A2):c.2967T>C:p.Pro989=	coding	Benign
7	94426433	G	A	G94426433A	COL1A2	NM_000089.3(COL1A2):c.3008G>A:p.Gly1003Asp	coding	Pathogenic
7	94426442	G	C	G94426442C	COL1A2	NM_000089.3(COL1A2):c.3017G>C:p.Gly1006Ala	coding	Pathogenic
7	94426443	C	T	C94426443T	COL1A2	NM_000089.3(COL1A2):c.3018C>T:p.Gly1006=	coding	Benign/Likely_benign
7	94426459	G	A	G94426459A	COL1A2	NM_000089.4(COL1A2):c.3034G>A:p.Gly1012Ser	coding	Pathogenic/Likely_pathogenic
7	94426459	G	C	G94426459C	COL1A2	NM_000089.3(COL1A2):c.3034G>C:p.Gly1012Arg	coding	Pathogenic
7	94426504	G	A	G94426504A	COL1A2	NM_000089.3(COL1A2):c.3079G>A:p.Gly1027Arg	coding	Pathogenic
7	94426505	G	A	G94426505A	COL1A2	NM_000089.3(COL1A2):c.3080G>A:p.Gly1027Glu	coding	Pathogenic
7	94426513	G	A	G94426513A	COL1A2	NM_000089.4(COL1A2):c.3088G>A:p.Gly1030Ser	coding	Pathogenic
7	94426514	G	A	G94426514A	COL1A2	NM_000089.3(COL1A2):c.3089G>A:p.Gly1030Asp	coding	Pathogenic
7	94426514	G	C	G94426514C	COL1A2	NM_000089.3(COL1A2):c.3089G>C:p.Gly1030Ala	coding	Pathogenic
7	94426532	T	C	T94426532C	COL1A2	NM_000089.3(COL1A2):c.3105+2T>C	noncoding	Pathogenic
7	94426573	G	A	G94426573A	COL1A2	NM_000089.3(COL1A2):c.3105+43G>A	noncoding	Benign
7	94426621	T	C	T94426621C	COL1A2	NM_000089.3(COL1A2):c.3105+91T>C	noncoding	Benign
7	94426904	G	A	G94426904A	COL1A2	NM_000089.3(COL1A2):c.3106-104G>A	noncoding	Benign
7	94426932	C	G	C94426932G	COL1A2	NM_000089.3(COL1A2):c.3106-76C>G	noncoding	Benign
7	94427008	G	C	G94427008C	COL1A2	NM_000089.3(COL1A2):c.3106G>C:p.Gly1036Arg	coding	Pathogenic
7	94427026	G	A	G94427026A	COL1A2	NM_000089.4(COL1A2):c.3124G>A:p.Gly1042Ser	coding	Pathogenic
7	94427037	C	A	C94427037A	COL1A2	NM_000089.4(COL1A2):c.3135C>A:p.Gly1045=	coding	Benign
7	94427037	C	T	C94427037T	COL1A2	NM_000089.3(COL1A2):c.3135C>T:p.Gly1045=	coding	Benign
7	94427041	G	A	G94427041A	COL1A2	NM_000089.3(COL1A2):c.3139G>A:p.Val1047Met	coding	Benign/Likely_benign
7	94427046	T	C	T94427046C	COL1A2	NM_000089.4(COL1A2):c.3144T>C:p.Gly1048=	coding	Benign/Likely_benign
7	94427278	G	T	G94427278T	COL1A2	NM_000089.4(COL1A2):c.3250G>T:p.Gly1084Cys	coding	Pathogenic
7	94427389	G	T	G94427389T	COL1A2	NM_000089.3(COL1A2):c.3267+94G>T	noncoding	Benign
7	94427628	G	A	G94427628A	COL1A2	NM_000089.3(COL1A2):c.3269G>A:p.Gly1090Asp	coding	Pathogenic
7	94427645	G	A	G94427645A	COL1A2	NM_000089.4(COL1A2):c.3286G>A:p.Gly1096Ser	coding	Pathogenic
7	94427654	G	A	G94427654A	COL1A2	NM_000089.3(COL1A2):c.3295G>A:p.Gly1099Arg	coding	Pathogenic
7	94427663	G	A	G94427663A	COL1A2	NM_000089.3(COL1A2):c.3304G>A:p.Gly1102Ser	coding	Pathogenic
7	94427663	G	T	G94427663T	COL1A2	NM_000089.3(COL1A2):c.3304G>T:p.Gly1102Cys	coding	Pathogenic
7	94427664	G	C	G94427664C	COL1A2	NM_000089.4(COL1A2):c.3305G>C:p.Gly1102Ala	coding	Pathogenic
7	94427695	C	T	C94427695T	COL1A2	NM_000089.3(COL1A2):c.3336C>T:p.Tyr1112=	coding	Benign/Likely_benign
7	94428351	T	C	T94428351C	COL1A2	NM_000089.3(COL1A2):c.3585T>C:p.Cys1195=	coding	Benign/Likely_benign
7	94428367	G	T	G94428367T	COL1A2	NM_000089.3(COL1A2):c.3601G>T:p.Glu1201Ter	coding	Pathogenic
7	94428380	G	A	G94428380A	COL1A2	NM_000089.3(COL1A2):c.3614G>A:p.Arg1205Gln	coding	Benign/Likely_benign
7	94428886	T	C	T94428886C	COL1A2	NM_000089.3(COL1A2):c.3712-302T>C	noncoding	Benign
7	94429083	T	C	T94429083C	COL1A2	NM_000089.3(COL1A2):c.3712-105T>C	noncoding	Benign
7	94429108	C	T	C94429108T	COL1A2	NM_000089.4(COL1A2):c.3712-80C>T	noncoding	Benign
7	94429175	C	T	C94429175T	COL1A2	NM_000089.3(COL1A2):c.3712-13C>T	noncoding	Benign
7	94429230	A	G	A94429230G	COL1A2	NM_000089.3(COL1A2):c.3754A>G:p.Thr1252Ala	coding	Benign/Likely_benign
7	94429325	T	C	T94429325C	COL1A2	NM_000089.3(COL1A2):c.3849T>C:p.Thr1283=	coding	Benign
7	94429359	T	C	T94429359C	COL1A2	NM_000089.3(COL1A2):c.3883T>C:p.Ser1295Pro	coding	Benign/Likely_benign
7	94430587	C	T	C94430587T	COL1A2	NM_000089.3(COL1A2):c.*194C>T	noncoding	Benign
7	94430588	C	T	C94430588T	COL1A2	NM_000089.3(COL1A2):c.*195C>T	noncoding	Benign
7	94430598	A	G	A94430598G	COL1A2	NM_000089.3(COL1A2):c.*205A>G	noncoding	Benign
7	94430676	T	C	T94430676C	COL1A2	NM_000089.3(COL1A2):c.*283T>C	noncoding	Benign
7	94430808	T	G	T94430808G	COL1A2	NM_000089.3(COL1A2):c.*415T>G	noncoding	Benign
7	94430998	A	G	A94430998G	COL1A2	NM_000089.3(COL1A2):c.*605A>G	noncoding	Benign
7	94431197	G	T	G94431197T	COL1A2	NM_000089.3(COL1A2):c.*804G>T	noncoding	Benign
7	94585398	T	C	T94585398C	SGCE	NM_003919.3(SGCE):c.*101A>G	noncoding	Benign
7	94588742	A	G	A94588742G	SGCE	NM_003919.3(SGCE):c.1254-10T>C	noncoding	Benign
7	94597961	C	T	C94597961T	SGCE	NM_003919.3(SGCE):c.1253+814G>A	coding	Benign/Likely_benign
7	94597963	C	T	C94597963T	SGCE;CASD1	NM_003919.3(SGCE):c.1253+812G>A	coding	Benign
7	94597964	T	G	T94597964G	SGCE	NM_003919.3(SGCE):c.1253+811A>C	coding	Benign
7	94598914	G	A	G94598914A	SGCE	NM_003919.3(SGCE):c.1114C>T:p.Arg372Ter	coding	Pathogenic
7	94598956	G	A	G94598956A	SGCE	NM_003919.3(SGCE):c.1072C>T:p.Leu358=	coding	Benign
7	94600658	C	T	C94600658T	SGCE	NM_003919.3(SGCE):c.1025G>A:p.Arg342Gln	coding	Benign
7	94600708	C	T	C94600708T	SGCE	NM_003919.3(SGCE):c.975G>A:p.Ser325=	coding	Benign/Likely_benign
7	94600842	G	A	G94600842A	SGCE	NM_003919.3(SGCE):c.841C>T:p.Gln281Ter	coding	Pathogenic
7	94600845	T	A	T94600845A	SGCE	NM_003919.3(SGCE):c.838A>T:p.Lys280Ter	coding	Pathogenic
7	94600859	T	C	T94600859C	SGCE	NM_003919.3(SGCE):c.826-2A>G	noncoding	Pathogenic
7	94603303	C	T	C94603303T	SGCE	NM_003919.3(SGCE):c.812G>A:p.Cys271Tyr	coding	Pathogenic/Likely_pathogenic
7	94603305	C	T	C94603305T	SGCE	NM_003919.3(SGCE):c.810G>A:p.Trp270Ter	coding	Pathogenic/Likely_pathogenic
7	94603322	G	A	G94603322A	SGCE	NM_003919.3(SGCE):c.793C>T:p.Gln265Ter	coding	Pathogenic
7	94603346	T	G	T94603346G	SGCE	NM_003919.3(SGCE):c.769A>C:p.Thr257Pro	coding	Benign
7	94603377	C	T	C94603377T	SGCE	NM_003919.3(SGCE):c.738G>A:p.Leu246=	coding	Benign
7	94603382	G	A	G94603382A	SGCE	NM_003919.3(SGCE):c.733C>T:p.Gln245Ter	coding	Pathogenic
7	94603388	G	A	G94603388A	SGCE	NM_003919.3(SGCE):c.727C>T:p.Gln243Ter	coding	Pathogenic
7	94603406	G	A	G94603406A	SGCE	NM_003919.3(SGCE):c.709C>T:p.Arg237Ter	coding	Pathogenic
7	94603453	C	T	C94603453T	SGCE;CASD1	NM_003919.3(SGCE):c.663-1G>A	coding	Pathogenic
7	94618829	G	A	G94618829A	SGCE	NM_003919.3(SGCE):c.591C>T:p.Asn197=	coding	Benign
7	94618833	A	C	A94618833C	SGCE	NM_003919.3(SGCE):c.587T>G:p.Leu196Arg	coding	Pathogenic
7	94618864	C	T	C94618864T	SGCE	NM_003919.3(SGCE):c.556G>A:p.Ala186Thr	coding	Benign
7	94623324	C	T	C94623324T	SGCE	NM_003919.3(SGCE):c.463+1G>A	noncoding	Pathogenic
7	94623386	G	T	G94623386T	SGCE	NM_003919.3(SGCE):c.402C>A:p.Tyr134Ter	coding	Pathogenic
7	94623400	A	G	A94623400G	SGCE	NM_003919.3(SGCE):c.391-3T>C	noncoding	Benign/Likely_benign
7	94623440	T	G	T94623440G	SGCE	NM_003919.3(SGCE):c.391-43A>C	noncoding	Benign
7	94623476	C	A	C94623476A	SGCE	NM_003919.3(SGCE):c.391-79G>T	noncoding	Benign
7	94628223	C	G	C94628223G	SGCE	NM_003919.3(SGCE):c.369G>C:p.Val123=	coding	Benign/Likely_benign
7	94628288	G	A	G94628288A	SGCE	NM_003919.3(SGCE):c.304C>T:p.Arg102Ter	coding	Pathogenic
7	94628293	C	T	C94628293T	SGCE	NM_003919.3(SGCE):c.299G>A:p.Trp100Ter	coding	Pathogenic
7	94628303	G	A	G94628303A	SGCE	NM_003919.3(SGCE):c.289C>T:p.Arg97Ter	coding	Pathogenic
7	94629718	C	T	C94629718T	SGCE	NM_003919.3(SGCE):c.232+1G>A	noncoding	Pathogenic
7	94910228	T	A	T94910228A	PPP1R9A	NM_001166160.2(PPP1R9A):c.115T>A:p.Ser39Thr	coding	Benign
7	95111375	A	G	A95111375G	PPP1R9A	NM_001166160.2(PPP1R9A):c.1512A>G:p.Pro504=	coding	Benign
7	95268633	C	T	C95268633T	PPP1R9A	NM_001166160.2(PPP1R9A):c.2749C>T:p.Arg917Cys	coding	Benign
7	95269395	C	G	C95269395G	PPP1R9A	NM_001166160.2(PPP1R9A):c.3012C>G:p.Leu1004=	coding	Benign
7	95288582	G	A	G95288582A	PPP1R9A	NM_001166160.2(PPP1R9A):c.3776G>A:p.Arg1259Gln	coding	Benign
7	95308106	C	T	C95308106T	PON1	NM_000446.7(PON1):c.603G>A:p.Ala201=	coding	Benign
7	95360006	G	A	G95360006A	PON3	NM_000940.3(PON3):c.1032C>T:p.Thr344=	coding	Benign
7	95360067	C	T	C95360067T	PON3	NM_000940.3(PON3):c.971G>A:p.Gly324Asp	coding	Benign
7	95362752	A	G	A95362752G	PON3	NM_000940.3(PON3):c.777+8T>C	noncoding	Benign
7	95363949	A	G	A95363949G	PON3	NM_000940.3(PON3):c.609T>C:p.Tyr203=	coding	Benign
7	95364022	G	T	G95364022T	PON3	NM_000940.3(PON3):c.536C>A:p.Ala179Asp	coding	Benign
7	95367420	C	T	C95367420T	PON3	NM_000940.3(PON3):c.436G>A:p.Glu146Lys	coding	Benign
7	95367429	A	G	A95367429G	PON3	NM_000940.3(PON3):c.427T>C:p.Phe143Leu	coding	Benign
7	95396346	C	T	C95396346T	PON3	NM_000940.3(PON3):c.5G>A:p.Gly2Glu	coding	Benign
7	95405463	G	C	G95405463C	PON2	NM_000305.3(PON2):c.932C>G:p.Ser311Cys	coding	Benign
7	95409887	A	G	A95409887G	PON2	NM_000305.3(PON2):c.695+14T>C	noncoding	Benign
7	95410082	C	G	C95410082G	PON2	NM_000305.3(PON2):c.514G>C:p.Val172Leu	coding	Benign
7	95411691	C	T	C95411691T	PON2	NM_000305.3(PON2):c.456G>A:p.Leu152=	coding	Benign
7	95411704	G	C	G95411704C	PON2	NM_000305.3(PON2):c.443C>G:p.Ala148Gly	coding	Benign
7	95434956	C	T	C95434956T	PON2	NM_000305.3(PON2):c.-5G>A	noncoding	Benign
7	95592889	T	C	T95592889C	PDK4	NM_002612.4(PDK4):c.400A>G:p.Met134Val	coding	Benign
7	95804844	C	G	C95804844G	DYNC1I1	NM_004411.4(DYNC1I1):c.108+7C>G	noncoding	Benign
7	95813198	C	G	C95813198G	DYNC1I1	NM_004411.4(DYNC1I1):c.226C>G:p.Gln76Glu	coding	Benign
7	95977565	C	A	C95977565A	DYNC1I1	NM_004411.4(DYNC1I1):c.595C>A:p.Leu199Met	coding	Benign
7	95984960	G	A	G95984960A	DYNC1I1	NM_004411.4(DYNC1I1):c.777G>A:p.Glu259=	coding	Benign
7	96039352	C	A	C96039352A	DYNC1I1	NM_004411.4(DYNC1I1):c.1491C>A:p.Gly497=	coding	Benign
7	96080354	C	A	C96080354A	DYNC1I1	NM_004411.4(DYNC1I1):c.1702-9C>A	noncoding	Benign
7	96121016	T	C	T96121016C	SLC25A13	NM_014251.3(SLC25A13):c.*175A>G	noncoding	Benign/Likely_benign
7	96121335	G	A	G96121335A	SLC25A13	NM_014251.3(SLC25A13):c.1884C>T:p.Asn628=	coding	Benign/Likely_benign
7	96121683	G	A	G96121683A	SLC25A13	NM_014251.3(SLC25A13):c.1813C>T:p.Arg605Ter	coding	Pathogenic
7	96121695	C	A	C96121695A	SLC25A13	NM_014251.3(SLC25A13):c.1801G>T:p.Glu601Ter	coding	Pathogenic
7	96121734	G	A	G96121734A	SLC25A13	NM_014251.3(SLC25A13):c.1762C>T:p.Arg588Ter	coding	Pathogenic
7	96121918	G	A	G96121918A	SLC25A13	NM_014251.3(SLC25A13):c.1671C>T:p.Thr557=	coding	Benign/Likely_benign
7	96121997	C	T	C96121997T	SLC25A13	NM_014251.3(SLC25A13):c.1592G>A:p.Gly531Asp	coding	Pathogenic
7	96146559	G	T	G96146559T	SLC25A13	NM_014251.3(SLC25A13):c.1449C>A:p.Tyr483Ter	coding	Pathogenic
7	96146609	G	A	G96146609A	SLC25A13	NM_014251.3(SLC25A13):c.1399C>T:p.Arg467Ter	coding	Pathogenic
7	96146634	C	T	C96146634T	SLC25A13	NM_014251.3(SLC25A13):c.1374G>A:p.Val458=	coding	Benign
7	96170044	C	T	C96170044T	SLC25A13	NM_014251.3(SLC25A13):c.1311+1G>A	noncoding	Pathogenic
7	96171506	A	T	A96171506T	SLC25A13	NM_014251.3(SLC25A13):c.1196T>A:p.Leu399Ter	coding	Pathogenic
7	96171508	T	C	T96171508C	SLC25A13	NM_014251.3(SLC25A13):c.1194A>G:p.Leu398=	coding	Benign
7	96184276	C	T	C96184276T	SLC25A13	NM_014251.3(SLC25A13):c.1177+1G>A	noncoding	Pathogenic
7	96184376	G	A	G96184376A	SLC25A13	NM_014251.3(SLC25A13):c.1078C>T:p.Arg360Ter	coding	Pathogenic/Likely_pathogenic
7	96184990	G	A	G96184990A	SLC25A13	NM_014251.3(SLC25A13):c.955C>T:p.Arg319Ter	coding	Pathogenic
7	96189132	C	T	C96189132T	SLC25A13	NM_014251.3(SLC25A13):c.933+162G>A	noncoding	Benign
7	96189578	T	G	T96189578G	SLC25A13	NM_014251.3(SLC25A13):c.848+3A>C	noncoding	Pathogenic
7	96189580	C	A	C96189580A	SLC25A13	NM_014251.3(SLC25A13):c.848+1G>T	noncoding	Pathogenic/Likely_pathogenic
7	96189654	G	A	G96189654A	SLC25A13	NM_014251.3(SLC25A13):c.775C>T:p.Gln259Ter	coding	Pathogenic
7	96190907	T	C	T96190907C	SLC25A13	NM_014251.3(SLC25A13):c.754+202A>G	noncoding	Benign
7	96191188	C	T	C96191188T	SLC25A13	NM_014251.3(SLC25A13):c.675G>A:p.Ser225=	coding	Benign/Likely_benign
7	96191189	G	T	G96191189T	SLC25A13	NM_014251.3(SLC25A13):c.674C>A:p.Ser225Ter	coding	Pathogenic
7	96193032	C	T	C96193032T	SLC25A13	NM_014251.3(SLC25A13):c.615+5G>A	noncoding	Pathogenic
7	96193036	C	G	C96193036G	SLC25A13	NM_014251.3(SLC25A13):c.615+1G>C	noncoding	Pathogenic
7	96193102	G	A	G96193102A	SLC25A13	NM_014251.3(SLC25A13):c.550C>T:p.Arg184Ter	coding	Pathogenic
7	96193159	G	A	G96193159A	SLC25A13	NM_014251.3(SLC25A13):c.493C>T:p.Gln165Ter	coding	Pathogenic
7	96234796	T	C	T96234796C	SLC25A13	NM_014251.3(SLC25A13):c.328+6A>G	noncoding	Benign
7	96234824	A	G	A96234824G	SLC25A13	NM_014251.3(SLC25A13):c.306T>C:p.Ala102=	coding	Benign
7	96277315	A	G	A96277315G	SLC25A13	NM_014251.3(SLC25A13):c.93T>C:p.Gly31=	coding	Benign
7	96277339	C	T	C96277339T	SLC25A13	NM_014251.3(SLC25A13):c.70-1G>A	coding	Pathogenic/Likely_pathogenic
7	96321942	C	T	C96321942T	SLC25A13	NM_014251.3(SLC25A13):c.15G>A:p.Lys5=	coding	Pathogenic
7	97007735	G	A	G97007735A	DLX6	NM_005222.4(DLX6):c.534G>A:p.Gln178=	coding	Benign
7	97020904	G	A	G97020904A	DLX5	NM_005221.6(DLX5):c.702C>T:p.Ser234=	coding	Benign
7	97021048	C	A	C97021048A	DLX5	NM_005221.6(DLX5):c.558G>T:p.Gln186His	coding	Pathogenic
7	97021075	G	A	G97021075A	DLX5	NM_005221.6(DLX5):c.541-10C>T	noncoding	Benign
7	97022192	T	G	T97022192G	DLX5	NM_005221.6(DLX5):c.533A>C:p.Gln178Pro	coding	Pathogenic
7	97024372	G	C	G97024372C	DLX5	NM_005221.6(DLX5):c.252C>G:p.Ala84=	coding	Benign
7	97024509	C	A	C97024509A	DLX5	NM_005221.6(DLX5):c.115G>T:p.Glu39Ter	coding	Pathogenic
7	97732624	C	G	C97732624G	TAC1	NM_003182.3(TAC1):c.12C>G:p.Leu4=	coding	Benign
7	97852297	G	A	G97852297A	ASNS	NM_001673.5(ASNS):c.1648C>T:p.Arg550Cys	coding	Pathogenic/Likely_pathogenic
7	97852358	C	T	C97852358T	ASNS	NM_001673.5(ASNS):c.1587G>A:p.Arg529=	coding	Benign
7	97853059	C	T	C97853059T	ASNS	NM_001673.5(ASNS):c.1476+1G>A	noncoding	Pathogenic
7	97853080	G	A	G97853080A	ASNS	NM_001673.5(ASNS):c.1456C>T:p.Gln486Ter	coding	Pathogenic
7	97853097	G	A	G97853097A	ASNS	NM_001673.5(ASNS):c.1439C>T:p.Ser480Phe	coding	Pathogenic/Likely_pathogenic
7	97853109	G	T	G97853109T	ASNS	NM_001673.5(ASNS):c.1427C>A:p.Ser476Ter	coding	Pathogenic
7	97853143	G	A	G97853143A	ASNS	NM_001673.5(ASNS):c.1393C>T:p.Arg465Ter	coding	Pathogenic
7	97854653	C	A	C97854653A	ASNS	NM_001673.5(ASNS):c.1165G>T:p.Glu389Ter	coding	Pathogenic
7	97854654	C	T	C97854654T	ASNS	NM_001673.5(ASNS):c.1164G>A:p.Glu388=	coding	Benign
7	97854680	C	A	C97854680A	ASNS	NM_001673.5(ASNS):c.1138G>T:p.Ala380Ser	coding	Pathogenic
7	97855393	C	T	C97855393T	ASNS	NM_001673.5(ASNS):c.1097G>A:p.Gly366Glu	coding	Pathogenic
7	97855406	A	C	A97855406C	ASNS	NM_001673.5(ASNS):c.1084T>G:p.Phe362Val	coding	Pathogenic/Likely_pathogenic
7	97856701	C	T	C97856701T	ASNS	NM_001673.5(ASNS):c.1019G>A:p.Arg340His	coding	Pathogenic
7	97858352	C	T	C97858352T	ASNS	NM_001673.5(ASNS):c.829G>A:p.Ala277Thr	coding	Benign/Likely_benign
7	97859257	A	T	A97859257T	ASNS	NM_001673.5(ASNS):c.629T>A:p.Val210Glu	coding	Benign
7	97859295	T	G	T97859295G	ASNS	NM_001673.5(ASNS):c.591A>C:p.Ala197=	coding	Benign
7	97859317	A	C	A97859317C	ASNS	NM_001673.5(ASNS):c.569T>G:p.Leu190Ter	coding	Pathogenic
7	97864312	A	T	A97864312T	ASNS	NM_001673.5(ASNS):c.434T>A:p.Leu145Ter	coding	Pathogenic
7	97864333	T	A	T97864333A	ASNS	NM_001673.5(ASNS):c.413A>T:p.Asp138Val	coding	Pathogenic
7	97864469	G	A	G97864469A	ASNS	NM_001673.5(ASNS):c.277C>T:p.Gln93Ter	coding	Pathogenic
7	97864490	G	A	G97864490A	ASNS	NM_001673.5(ASNS):c.256C>T:p.Gln86Ter	coding	Pathogenic
7	97869013	G	A	G97869013A	ASNS	NM_001673.5(ASNS):c.144C>T:p.His48=	coding	Benign/Likely_benign
7	97869139	C	T	C97869139T	ASNS	NM_001673.5(ASNS):c.18G>A:p.Ala6=	coding	Benign
7	97869140	G	T	G97869140T	ASNS	NM_001673.5(ASNS):c.17C>A:p.Ala6Glu	coding	Pathogenic/Likely_pathogenic
7	98193194	G	T	G98193194T	LMTK2	NM_014916.4(LMTK2):c.2729G>T:p.Ser910Ile	coding	Benign
7	98193489	G	A	G98193489A	LMTK2	NM_014916.4(LMTK2):c.3024G>A:p.Ala1008=	coding	Benign
7	98193561	C	T	C98193561T	LMTK2	NM_014916.4(LMTK2):c.3096C>T:p.Tyr1032=	coding	Benign
7	98193777	G	A	G98193777A	LMTK2	NM_014916.4(LMTK2):c.3312G>A:p.Ala1104=	coding	Benign
7	98193804	C	T	C98193804T	LMTK2	NM_014916.4(LMTK2):c.3339C>T:p.Pro1113=	coding	Benign
7	98203615	G	C	G98203615C	LMTK2	NM_014916.4(LMTK2):c.4149G>C:p.Ala1383=	coding	Benign
7	98223005	C	T	C98223005T	TECPR1	NM_015395.3(TECPR1):c.2913G>A:p.Ser971=	coding	Benign
7	98229112	G	A	G98229112A	TECPR1	NM_015395.3(TECPR1):c.2337C>T:p.Gly779=	coding	Benign
7	98230987	G	A	G98230987A	TECPR1	NM_015395.3(TECPR1):c.2256C>T:p.His752=	coding	Benign
7	98231816	G	A	G98231816A	TECPR1	NM_015395.3(TECPR1):c.1962C>T:p.His654=	coding	Benign
7	98233840	G	A	G98233840A	TECPR1	NM_015395.3(TECPR1):c.1253C>T:p.Ser418Leu	coding	Benign
7	98243518	C	T	C98243518T	TECPR1	NM_015395.3(TECPR1):c.606G>A:p.Thr202=	coding	Benign
7	98282388	C	T	C98282388T	BRI3	NM_015379.5(BRI3):c.180C>T:p.His60=	coding	Benign
7	98882032	C	T	C98882032T	TRRAP	NM_001375524.1(TRRAP):c.150+8C>T	noncoding	Benign
7	98910275	G	A	G98910275A	TRRAP	NM_001375524.1(TRRAP):c.1570G>A:p.Val524Met	coding	Benign
7	98910604	T	C	T98910604C	TRRAP	NM_001375524.1(TRRAP):c.1809T>C:p.Tyr603=	coding	Benign
7	98911169	C	T	C98911169T	TRRAP	NM_001375524.1(TRRAP):c.1905C>T:p.Phe635=	coding	Benign
7	98917470	C	T	C98917470T	TRRAP	NM_003496.3(TRRAP):c.2413C>T:p.Leu805Phe	coding	Pathogenic
7	98917490	C	T	C98917490T	TRRAP	NM_001375524.1(TRRAP):c.2433C>T:p.Leu811=	coding	Benign
7	98917673	C	T	C98917673T	TRRAP	NM_001375524.1(TRRAP):c.2616C>T:p.Leu872=	coding	Benign
7	98925273	C	T	C98925273T	TRRAP	NM_001375524.1(TRRAP):c.2975+10C>T	noncoding	Benign
7	98927318	G	A	G98927318A	TRRAP	NM_003496.3(TRRAP):c.3127G>A:p.Ala1043Thr	coding	Pathogenic
7	98927319	C	T	C98927319T	TRRAP	NM_001375524.1(TRRAP):c.3128C>T:p.Ala1043Val	coding	Pathogenic
7	98931611	G	A	G98931611A	TRRAP	NM_001375524.1(TRRAP):c.3798G>A:p.Val1266=	coding	Benign
7	98948325	G	T	G98948325T	TRRAP	NM_001375524.1(TRRAP):c.4653G>T:p.Arg1551=	coding	Benign
7	98953320	T	A	T98953320A	TRRAP	NM_003496.3(TRRAP):c.5542T>A:p.Trp1848Arg	coding	Pathogenic
7	98953322	G	T	G98953322T	TRRAP	NM_003496.3(TRRAP):c.5544G>T:p.Trp1848Cys	coding	Pathogenic
7	98955256	C	T	C98955256T	TRRAP	NM_001375524.1(TRRAP):c.5889C>T:p.Thr1963=	coding	Benign
7	98956240	G	A	G98956240A	TRRAP	NM_003496.3(TRRAP):c.5957G>A:p.Arg1986Gln	coding	Pathogenic
7	98956447	G	A	G98956447A	TRRAP	NM_001375524.1(TRRAP):c.6145G>A:p.Val2049Ile	coding	Benign
7	98961299	G	A	G98961299A	TRRAP	NM_001375524.1(TRRAP):c.6528G>A:p.Thr2176=	coding	Benign
7	98962357	C	T	C98962357T	TRRAP	NM_001375524.1(TRRAP):c.6759C>T:p.Val2253=	coding	Benign
7	98967705	A	G	A98967705G	TRRAP	NM_001375524.1(TRRAP):c.7512+7A>G	noncoding	Benign
7	98970243	T	C	T98970243C	TRRAP	NM_001375524.1(TRRAP):c.7644T>C:p.His2548=	coding	Benign
7	98971954	G	A	G98971954A	TRRAP	NM_001375524.1(TRRAP):c.7839+9G>A	noncoding	Benign
7	98978240	T	C	T98978240C	TRRAP	NM_001375524.1(TRRAP):c.8415T>C:p.Asp2805=	coding	Benign
7	98984946	C	A	C98984946A	TRRAP	NM_001375524.1(TRRAP):c.9291C>A:p.Gly3097=	coding	Benign
7	99011433	C	G	C99011433G	TRRAP	NM_001375524.1(TRRAP):c.11235C>G:p.Leu3745=	coding	Benign
7	99035506	G	A	G99035506A	SMURF1	NM_181349.3(SMURF1):c.2011+9C>T	coding	Benign
7	99178073	C	T	C99178073T	KPNA7	NM_001145715.2(KPNA7):c.1318-7G>A	noncoding	Benign
7	99182071	G	A	G99182071A	KPNA7	NM_001145715.2(KPNA7):c.1135-6C>T	noncoding	Benign
7	99185162	T	A	T99185162A	KPNA7	NM_001145715.2(KPNA7):c.901A>T:p.Thr301Ser	coding	Benign
7	99188469	G	A	G99188469A	KPNA7	NM_001145715.2(KPNA7):c.731C>T:p.Pro244Leu	coding	Benign
7	99195087	G	A	G99195087A	KPNA7	NM_001145715.2(KPNA7):c.536C>T:p.Ala179Val	coding	Benign
7	99195159	C	G	C99195159G	KPNA7	NM_001145715.2(KPNA7):c.464G>C:p.Gly155Ala	coding	Benign
7	99203098	A	G	A99203098G	KPNA7	NM_001145715.2(KPNA7):c.201+8T>C	noncoding	Benign
7	99385779	G	A	G99385779A	ARPC1B	NM_005720.4(ARPC1B):c.64+1G>A	coding	Pathogenic
7	99385779	G	C	G99385779C	ARPC1B	NM_005720.4(ARPC1B):c.64+1G>C	coding	Pathogenic
7	99386718	A	G	A99386718G	ARPC1B	NM_005720.4(ARPC1B):c.98A>G:p.His33Arg	coding	Benign
7	99388183	C	T	C99388183T	ARPC1B	NM_005720.4(ARPC1B):c.314C>T:p.Ala105Val	coding	Pathogenic
7	99389957	G	T	G99389957T	ARPC1B	NM_005720.4(ARPC1B):c.445G>T:p.Asp149Tyr	coding	Benign
7	99390938	C	T	C99390938T	ARPC1B	NM_005720.4(ARPC1B):c.546C>T:p.Pro182=	coding	Benign
7	99391014	G	T	G99391014T	ARPC1B	NM_005720.4(ARPC1B):c.622G>T:p.Val208Phe	coding	Pathogenic
7	99396696	A	G	A99396696G	PDAP1	NM_014891.7(PDAP1):c.532T>C:p.Ser178Pro	coding	Benign
7	99404853	C	A	C99404853A	PDAP1	NM_014891.7(PDAP1):c.105+9G>T	noncoding	Benign
7	99425197	G	A	G99425197A	PTCD1	NM_015545.4(PTCD1):c.1335C>T:p.Pro445=	coding	Benign
7	99425257	G	T	G99425257T	PTCD1	NM_015545.4(PTCD1):c.1275C>A:p.Ala425=	coding	Benign
7	99434936	G	A	G99434936A	PTCD1	NM_015545.4(PTCD1):c.307C>T:p.Arg103Cys	coding	Benign
7	99435054	C	G	C99435054G	PTCD1	NM_015545.4(PTCD1):c.189G>C:p.Thr63=	coding	Benign
7	99435054	C	T	C99435054T	PTCD1	NM_015545.4(PTCD1):c.189G>A:p.Thr63=	coding	Benign
7	99435112	G	A	G99435112A	PTCD1	NM_015545.4(PTCD1):c.131C>T:p.Ala44Val	coding	Benign
7	99450781	G	A	G99450781A	CPSF4	NM_006693.4(CPSF4):c.483G>A:p.Ser161=	coding	Benign
7	99512482	G	A	G99512482A	ZKSCAN5	NM_145102.4(ZKSCAN5):c.444G>A:p.Arg148=	coding	Benign
7	99512590	T	C	T99512590C	ZKSCAN5	NM_145102.4(ZKSCAN5):c.552T>C:p.Asn184=	coding	Benign
7	99573504	T	G	T99573504G	ZNF655	NM_138494.3(ZNF655):c.1396T>G:p.Cys466Gly	coding	Benign
7	99648403	A	G	A99648403G	CYP3A5	NM_000777.5(CYP3A5):c.1414-3T>C	noncoding	Benign
7	99722302	A	G	A99722302G	CYP3A7	NM_000765.5(CYP3A7):c.212T>C:p.Val71Ala	coding	Benign
7	99762032	G	A	G99762032A	CYP3A4	NM_017460.6(CYP3A4):c.1253+9C>T	noncoding	Benign
7	99763979	A	G	A99763979G	CYP3A4	NM_017460.6(CYP3A4):c.902T>C:p.Ile301Thr	coding	Pathogenic
7	99768445	G	A	G99768445A	CYP3A4	NM_017460.6(CYP3A4):c.579C>T:p.Ile193=	coding	Benign
7	99929131	G	A	G99929131A	GJC3	NM_181538.3(GJC3):c.490C>T:p.Pro164Ser	coding	Benign
7	99929228	G	A	G99929228A	GJC3	NM_181538.3(GJC3):c.393C>T:p.Leu131=	coding	Benign
7	100093384	C	T	C100093384T	MCM7	NM_005916.5(MCM7):c.1866G>A:p.Val622=	coding	Benign
7	100095790	G	T	G100095790T	MCM7	NM_005916.5(MCM7):c.1579C>A:p.Arg527=	coding	Benign
7	100095992	G	A	G100095992A	MCM7	NM_005916.5(MCM7):c.1377C>T:p.His459=	coding	Benign
7	100096124	C	T	C100096124T	MCM7	NM_005916.5(MCM7):c.1245G>A:p.Thr415=	coding	Benign
7	100099339	C	T	C100099339T	MCM7	NM_005916.5(MCM7):c.341G>A:p.Arg114Gln	coding	Benign
7	100101546	A	T	A100101546T	AP4M1	NC_000007.14:g.100101546A>T	noncoding	Benign
7	100101724	C	T	C100101724T	AP4M1	NM_004722.4(AP4M1):c.10C>T:p.Gln4Ter	coding	Pathogenic
7	100101784	C	T	C100101784T	AP4M1	NM_004722.4(AP4M1):c.58+12C>T	coding	Benign
7	100102755	C	T	C100102755T	AP4M1	NM_004722.4(AP4M1):c.228C>T:p.Pro76=	coding	Benign
7	100102848	C	T	C100102848T	AP4M1	NM_004722.4(AP4M1):c.255-16C>T	noncoding	Benign
7	100102939	C	G	C100102939G	AP4M1	NM_004722.4(AP4M1):c.330C>G:p.Tyr110Ter	coding	Pathogenic
7	100103553	G	A	G100103553A	AP4M1	NM_004722.4(AP4M1):c.462+34G>A	noncoding	Benign
7	100103674	G	A	G100103674A	AP4M1	NM_004722.4(AP4M1):c.525G>A:p.Leu175=	coding	Benign
7	100104095	C	T	C100104095T	AP4M1	NM_004722.4(AP4M1):c.547C>T:p.Gln183Ter	coding	Pathogenic
7	100105098	G	A	G100105098A	AP4M1	NM_004722.4(AP4M1):c.727G>A:p.Gly243Ser	coding	Pathogenic
7	100105252	G	C	G100105252C	AP4M1	NM_004722.4(AP4M1):c.740G>C:p.Gly247Ala	coding	Benign/Likely_benign
7	100105314	C	T	C100105314T	AP4M1	NM_004722.4(AP4M1):c.802C>T:p.Arg268Ter	coding	Pathogenic
7	100105324	G	A	G100105324A	AP4M1	NM_004722.4(AP4M1):c.812G>A:p.Arg271His	coding	Benign
7	100105526	C	T	C100105526T	AP4M1	NM_004722.4(AP4M1):c.916C>T:p.Arg306Ter	coding	Pathogenic
7	100105533	C	G	C100105533G	AP4M1	NM_004722.4(AP4M1):c.923C>G:p.Ser308Ter	coding	Pathogenic
7	100105882	A	G	A100105882G	AP4M1	NM_004722.4(AP4M1):c.930-77A>G	noncoding	Benign
7	100105981	C	T	C100105981T	AP4M1	NM_004722.4(AP4M1):c.952C>T:p.Arg318Ter	coding	Pathogenic
7	100105989	C	T	C100105989T	AP4M1	NM_004722.4(AP4M1):c.960C>T:p.Asp320=	coding	Benign
7	100106268	C	T	C100106268T	AP4M1	NM_004722.4(AP4M1):c.1002C>T:p.Leu334=	coding	Benign
7	100106278	C	T	C100106278T	AP4M1	NM_004722.4(AP4M1):c.1012C>T:p.Arg338Ter	coding	Pathogenic
7	100106335	T	C	T100106335C	AP4M1	NM_004722.4(AP4M1):c.1025+44T>C	noncoding	Benign
7	100106494	C	T	C100106494T	AP4M1	NM_004722.4(AP4M1):c.1117C>T:p.Gln373Ter	coding	Pathogenic
7	100106825	C	T	C100106825T	AP4M1	NM_004722.4(AP4M1):c.1305C>T:p.Asn435=	coding	Benign
7	100106864	C	T	C100106864T	AP4M1	NM_004722.4(AP4M1):c.1344C>T:p.Ala448=	coding	Benign
7	100107363	G	A	G100107363A	TAF6	NM_139315.3(TAF6):c.1917C>T:p.Ser639=	coding	Benign
7	100107376	G	A	G100107376A	TAF6	NM_139315.3(TAF6):c.1904C>T:p.Pro635Leu	coding	Benign
7	100107381	C	T	C100107381T	TAF6	NM_139315.3(TAF6):c.1899G>A:p.Ser633=	coding	Benign
7	100107558	G	A	G100107558A	TAF6	NM_139315.3(TAF6):c.1722C>T:p.Thr574=	coding	Benign
7	100108043	G	A	G100108043A	TAF6	NM_139315.3(TAF6):c.1539C>T:p.Ile513=	coding	Benign
7	100108523	A	G	A100108523G	TAF6	NM_139315.3(TAF6):c.1302T>C:p.Val434=	coding	Benign
7	100111264	G	A	G100111264A	TAF6	NM_139315.3(TAF6):c.958C>T:p.Arg320Ter	coding	Pathogenic
7	100111818	G	A	G100111818A	TAF6	NM_139315.3(TAF6):c.810C>T:p.Asn270=	coding	Benign
7	100113611	C	A	C100113611A	TAF6	NM_139315.3(TAF6):c.397+5G>T	noncoding	Benign
7	100113725	G	A	G100113725A	TAF6	NM_139315.3(TAF6):c.288C>T:p.Phe96=	coding	Benign
7	100113899	A	G	A100113899G	TAF6	NM_139315.3(TAF6):c.212T>C:p.Ile71Thr	coding	Pathogenic/Likely_pathogenic
7	100114074	G	A	G100114074A	TAF6	NM_139315.3(TAF6):c.136C>T:p.Arg46Cys	coding	Pathogenic
7	100153961	C	G	C100153961G	LAMTOR4	NM_001008395.4(LAMTOR4):c.297C>G:p.Val99=	coding	Benign
7	100157657	C	A	C100157657A	TRAPPC14	NM_018275.5(TRAPPC14):c.613G>T:p.Glu205Ter	coding	Pathogenic
7	100160331	C	T	C100160331T	GAL3ST4	NM_024637.5(GAL3ST4):c.1058G>A:p.Arg353Gln	coding	Benign
7	100160332	G	A	G100160332A	GAL3ST4	NM_024637.5(GAL3ST4):c.1057C>T:p.Arg353Trp	coding	Benign
7	100160417	G	A	G100160417A	GAL3ST4	NM_024637.5(GAL3ST4):c.972C>T:p.Asp324=	coding	Benign
7	100166493	A	T	A100166493T	GAL3ST4	NM_024637.5(GAL3ST4):c.429+9T>A	noncoding	Benign
7	100166651	C	T	C100166651T	GAL3ST4	NM_024637.5(GAL3ST4):c.280G>A:p.Gly94Arg	coding	Benign
7	100199372	G	A	G100199372A	STAG3	NM_001282716.1(STAG3):c.1573+5G>A	noncoding	Pathogenic
7	100201873	G	A	G100201873A	STAG3	NM_001282716.1(STAG3):c.2301+7G>A	coding	Benign
7	100488867	G	A	G100488867A	NYAP1	NM_173564.4(NYAP1):c.1146G>A:p.Thr382=	coding	Benign
7	100572714	C	G	C100572714G	SAP25	NM_001348680.2(SAP25):c.549G>C:p.Ser183=	coding	Benign
7	100577077	G	A	G100577077A	LRCH4	NM_002319.5(LRCH4):c.1364+9C>T	noncoding	Benign
7	100578739	C	T	C100578739T	LRCH4	NM_002319.5(LRCH4):c.646G>A:p.Val216Ile	coding	Benign
7	100608083	G	C	G100608083C	PCOLCE	NM_002593.4(PCOLCE):c.1330G>C:p.Ala444Pro	coding	Benign
7	100621008	C	T	C100621008T	TFR2	NM_003227.4(TFR2):c.2255G>A:p.Arg752His	coding	Benign/Likely_benign
7	100621035	G	A	G100621035A	TFR2	NM_003227.4(TFR2):c.2228C>T:p.Ala743Val	coding	Benign
7	100621127	C	T	C100621127T	TFR2	NM_003227.4(TFR2):c.2137-1G>A	coding	Pathogenic
7	100621131	G	A	G100621131A	TFR2	NM_003227.4(TFR2):c.2137-5C>T	noncoding	Benign
7	100626798	G	A	G100626798A	TFR2	NM_003227.4(TFR2):c.2101C>T:p.Arg701Ter	coding	Pathogenic
7	100626814	C	G	C100626814G	TFR2	NM_003227.4(TFR2):c.2085G>C:p.Ser695=	coding	Benign/Likely_benign
7	100626830	T	G	T100626830G	TFR2	NM_003227.4(TFR2):c.2069A>C:p.Gln690Pro	coding	Pathogenic
7	100626874	G	C	G100626874C	TFR2	NM_003227.4(TFR2):c.2025C>G:p.Tyr675Ter	coding	Pathogenic
7	100627318	C	A	C100627318A	TFR2	NM_003227.4(TFR2):c.1941G>T:p.Gly647=	coding	Benign
7	100627389	G	A	G100627389A	TFR2	NM_003227.4(TFR2):c.1870C>T:p.Gln624Ter	coding	Pathogenic
7	100627408	G	A	G100627408A	TFR2	NM_003227.4(TFR2):c.1851C>T:p.Ala617=	coding	Benign
7	100627489	G	A	G100627489A	TFR2	NM_003227.4(TFR2):c.1770C>T:p.Asp590=	coding	Benign
7	100627735	C	G	C100627735G	TFR2	NM_003227.4(TFR2):c.1682+9G>C	noncoding	Benign
7	100628228	A	C	A100628228C	TFR2	NM_003227.4(TFR2):c.1469T>G:p.Leu490Arg	coding	Pathogenic
7	100628248	G	A	G100628248A	TFR2	NM_003227.4(TFR2):c.1449C>T:p.Ser483=	coding	Benign
7	100628288	C	A	C100628288A	TFR2	NM_003227.4(TFR2):c.1409G>T:p.Ser470Ile	coding	Pathogenic
7	100628319	G	T	G100628319T	TFR2	NM_003227.4(TFR2):c.1391-13C>A	noncoding	Benign
7	100629313	C	T	C100629313T	TFR2	NM_003227.4(TFR2):c.1330G>A:p.Ala444Thr	coding	Pathogenic
7	100630953	G	T	G100630953T	TFR2	NM_003227.4(TFR2):c.1206C>A:p.Asn402Lys	coding	Benign
7	100630973	G	A	G100630973A	TFR2	NM_003227.4(TFR2):c.1186C>T:p.Arg396Ter	coding	Pathogenic
7	100632099	G	A	G100632099A	TFR2	NM_003227.4(TFR2):c.949C>T:p.Gln317Ter	coding	Pathogenic
7	100632995	A	T	A100632995T	TFR2	NM_003227.4(TFR2):c.849+6T>A	noncoding	Benign
7	100633100	G	C	G100633100C	TFR2	NM_003227.4(TFR2):c.750C>G:p.Tyr250Ter	coding	Pathogenic
7	100633241	G	C	G100633241C	TFR2	NM_003227.4(TFR2):c.714C>G:p.Ile238Met	coding	Benign
7	100633284	A	C	A100633284C	TFR2	NM_003227.4(TFR2):c.671T>G:p.Leu224Arg	coding	Pathogenic
7	100633515	A	T	A100633515T	TFR2	NM_003227.4(TFR2):c.515T>A:p.Met172Lys	coding	Pathogenic
7	100640637	G	T	G100640637T	TFR2	NM_003227.4(TFR2):c.473+49C>A	noncoding	Benign
7	100640712	C	T	C100640712T	TFR2	NM_003227.4(TFR2):c.447G>A:p.Gly149=	coding	Benign/Likely_benign
7	100640846	G	A	G100640846A	TFR2	NM_003227.4(TFR2):c.313C>T:p.Arg105Ter	coding	Pathogenic
7	100641037	C	T	C100641037T	TFR2	NM_003227.4(TFR2):c.225G>A:p.Ala75=	coding	Benign
7	100641127	C	T	C100641127T	TFR2	NM_003227.4(TFR2):c.135G>A:p.Ala45=	coding	Benign
7	100641165	G	T	G100641165T	TFR2	NM_003227.4(TFR2):c.97C>A:p.His33Asn	coding	Benign
7	100641548	G	A	G100641548A	TFR2	NM_003227.4(TFR2):c.-39C>T	noncoding	Benign
7	100646769	A	T	A100646769T	ACTL6B	NM_016188.5(ACTL6B):c.999T>A:p.Cys333Ter	coding	Pathogenic
7	100683845	C	T	C100683845T	GIGYF1	NM_001375765.1(GIGYF1):c.1942G>A:p.Val648Ile	coding	Benign
7	100687515	C	T	C100687515T	GIGYF1	NM_001375765.1(GIGYF1):c.363G>A:p.Thr121=	coding	Benign
7	100721003	C	T	C100721003T	EPO	NM_000799.4(EPO):c.13+10C>T	noncoding	Benign
7	100721598	G	A	G100721598A	EPO	NM_000799.4(EPO):c.54G>A:p.Ser18=	coding	Benign
7	100721652	C	T	C100721652T	EPO	NM_000799.4(EPO):c.108C>T:p.Ser36=	coding	Benign
7	100722039	G	A	G100722039A	EPO	NM_000799.4(EPO):c.237G>A:p.Lys79=	coding	Benign
7	100722758	C	T	C100722758T	EPO	NM_000799.4(EPO):c.341C>T:p.Pro114Leu	coding	Benign
7	100723004	G	A	G100723004A	EPO	NM_000799.4(EPO):c.453G>A:p.Ala151=	coding	Benign
7	100723081	G	A	G100723081A	EPO	NM_000799.4(EPO):c.530G>A:p.Arg177Gln	coding	Pathogenic
7	100736522	C	T	C100736522T	ZAN	NM_003386.3(ZAN):c.146C>T:p.Pro49Leu	coding	Benign
7	100773850	C	T	C100773850T	ZAN	NM_003386.3(ZAN):c.5764C>T:p.His1922Tyr	coding	Benign
7	100794236	C	A	C100794236A	ZAN	NM_003386.3(ZAN):c.8103C>A:p.Asn2701Lys	coding	Benign
7	100803476	C	A	C100803476A	EPHB4	NM_004444.5(EPHB4):c.2949G>T:p.Pro983=	coding	Benign
7	100805509	C	A	C100805509A	EPHB4	NM_004444.5(EPHB4):c.2670G>T:p.Glu890Asp	coding	Benign
7	100805521	G	A	G100805521A	EPHB4	NM_004444.5(EPHB4):c.2658C>T:p.Ile886=	coding	Benign
7	100805535	C	T	C100805535T	EPHB4	NM_004444.5(EPHB4):c.2644G>A:p.Ala882Thr	coding	Benign
7	100805589	G	A	G100805589A	EPHB4	NM_004444.5(EPHB4):c.2590C>T:p.Arg864Trp	coding	Pathogenic/Likely_pathogenic
7	100805667	G	A	G100805667A	EPHB4	NM_004444.5(EPHB4):c.2512C>T:p.Arg838Trp	coding	Pathogenic/Likely_pathogenic
7	100806419	C	A	C100806419A	EPHB4	NM_004444.5(EPHB4):c.2484+1G>T	noncoding	Pathogenic
7	100806419	C	T	C100806419T	EPHB4	NM_004444.5(EPHB4):c.2484+1G>A	noncoding	Pathogenic
7	100806486	G	C	G100806486C	EPHB4	NM_004444.5(EPHB4):c.2418C>G:p.Tyr806Ter	coding	Pathogenic/Likely_pathogenic
7	100806559	A	C	A100806559C	EPHB4	NM_004444.5(EPHB4):c.2345T>G:p.Ile782Ser	coding	Pathogenic
7	100807364	C	G	C100807364G	EPHB4	NM_004444.5(EPHB4):c.2334+1G>C	noncoding	Pathogenic
7	100807483	C	T	C100807483T	EPHB4	NM_004444.5(EPHB4):c.2216G>A:p.Arg739Gln	coding	Pathogenic
7	100812975	G	A	G100812975A	EPHB4	NM_004444.5(EPHB4):c.1890C>T:p.Cys630=	coding	Benign
7	100813656	T	C	T100813656C	EPHB4	NM_004444.5(EPHB4):c.1752A>G:p.Gly584=	coding	Benign
7	100813665	A	G	A100813665G	EPHB4	NM_004444.5(EPHB4):c.1743T>C:p.Tyr581=	coding	Benign
7	100818517	T	C	T100818517C	EPHB4	NM_004444.5(EPHB4):c.1422+3A>G	noncoding	Benign
7	100818628	A	G	A100818628G	EPHB4	NM_004444.5(EPHB4):c.1314T>C:p.Ser438=	coding	Benign
7	100819674	G	A	G100819674A	EPHB4	NM_004444.5(EPHB4):c.1180C>T:p.Arg394Ter	coding	Pathogenic
7	100819731	C	A	C100819731A	EPHB4	NM_004444.5(EPHB4):c.1123G>T:p.Gly375Ter	coding	Pathogenic
7	100819742	G	A	G100819742A	EPHB4	NM_004444.5(EPHB4):c.1112C>T:p.Ala371Val	coding	Benign
7	100822392	G	A	G100822392A	EPHB4	NM_004444.5(EPHB4):c.687C>T:p.Pro229=	coding	Benign
7	100822533	A	G	A100822533G	EPHB4	NM_004444.5(EPHB4):c.546T>C:p.Gly182=	coding	Benign
7	100822590	C	T	C100822590T	EPHB4	NM_004444.5(EPHB4):c.489G>A:p.Thr163=	coding	Benign
7	100823666	C	T	C100823666T	EPHB4	NM_004444.5(EPHB4):c.389G>A:p.Trp130Ter	coding	Pathogenic
7	100826965	G	C	G100826965C	EPHB4;SLC12A9	NM_004444.5(EPHB4):c.52+14C>G	noncoding	Benign
7	100858884	C	T	C100858884T	SLC12A9	NM_020246.4(SLC12A9):c.807C>T:p.Ser269=	coding	Benign
7	100868220	G	A	G100868220A	TRIP6	NM_003302.3(TRIP6):c.350G>A:p.Arg117Gln	coding	Benign
7	100882125	C	T	C100882125T	SRRT	NM_015908.6(SRRT):c.471C>T:p.Leu157=	coding	Benign
7	100884097	G	A	G100884097A	SRRT	NM_015908.6(SRRT):c.615G>A:p.Glu205=	coding	Benign
7	100884916	C	T	C100884916T	SRRT	NM_015908.6(SRRT):c.1042-7C>T	noncoding	Benign
7	100886342	C	G	C100886342G	SRRT	NM_015908.6(SRRT):c.1554C>G:p.Arg518=	coding	Benign
7	100886818	C	A	C100886818A	SRRT	NM_015908.6(SRRT):c.1671C>A:p.Ile557=	coding	Benign
7	100888465	A	T	A100888465T	SRRT	NM_015908.6(SRRT):c.2556-9A>T	noncoding	Benign
7	100893176	G	T	G100893176T	ACHE	NM_000665.5(ACHE):c.1057C>A:p.His353Asn	coding	Benign
7	100893201	C	T	C100893201T	ACHE	NM_000665.5(ACHE):c.1032G>A:p.Glu344=	coding	Benign
7	100893426	C	T	C100893426T	ACHE	NM_000665.5(ACHE):c.807G>A:p.Thr269=	coding	Benign
7	100893967	C	T	C100893967T	ACHE	NM_000665.5(ACHE):c.266G>A:p.Gly89Glu	coding	Benign
7	100894132	C	T	C100894132T	ACHE	NM_000665.5(ACHE):c.101G>A:p.Arg34Gln	coding	Benign
7	101004258	C	T	C101004258T	MUC12	NM_001164462.1(MUC12):c.13695C>T:p.Ser4565=	coding	Benign
7	101004267	G	C	G101004267C	MUC12	NM_001164462.1(MUC12):c.13704G>C:p.Leu4568Phe	coding	Benign
7	101087711	C	T	C101087711T	TRIM56	NM_030961.3(TRIM56):c.399C>T:p.Asp133=	coding	Benign
7	101088495	C	T	C101088495T	TRIM56	NM_030961.3(TRIM56):c.1183C>T:p.Arg395Trp	coding	Benign
7	101128442	G	A	G101128442A	SERPINE1	NM_000602.4(SERPINE1):c.49G>A:p.Val17Ile	coding	Benign
7	101130506	G	A	G101130506A	SERPINE1	NM_000602.5(SERPINE1):c.357G>A:p.Ala119=	coding	Benign/Likely_benign
7	101131924	G	C	G101131924C	SERPINE1	NM_000602.4(SERPINE1):c.555G>C:p.Arg185=	coding	Benign
7	101132017	C	T	C101132017T	SERPINE1	NM_000602.5(SERPINE1):c.648C>T:p.Asp216=	coding	Benign
7	101133905	C	T	C101133905T	SERPINE1	NM_000602.5(SERPINE1):c.899+12C>T	noncoding	Benign
7	101136992	C	T	C101136992T	SERPINE1	NM_000602.5(SERPINE1):c.1088-9C>T	noncoding	Benign/Likely_benign
7	101137803	T	C	T101137803C	SERPINE1	NM_000602.4(SERPINE1):c.*361T>C	noncoding	Benign
7	101138127	C	T	C101138127T	SERPINE1	NM_000602.5(SERPINE1):c.*685C>T	noncoding	Benign
7	101138132	T	C	T101138132C	SERPINE1	NM_000602.4(SERPINE1):c.*690T>C	noncoding	Benign
7	101138164	T	G	T101138164G	SERPINE1	NM_000602.4(SERPINE1):c.*722T>G	noncoding	Benign
7	101138194	C	A	C101138194A	SERPINE1	NM_000602.4(SERPINE1):c.*752C>A	noncoding	Benign
7	101138334	G	A	G101138334A	SERPINE1	NM_000602.4(SERPINE1):c.*892G>A	noncoding	Benign
7	101138628	C	T	C101138628T	SERPINE1	NM_000602.4(SERPINE1):c.*1186C>T	noncoding	Benign
7	101139179	G	A	G101139179A	SERPINE1	NM_000602.4(SERPINE1):c.*1737G>A	noncoding	Benign
7	101156606	C	T	C101156606T	AP1S1	NM_001283.5(AP1S1):c.16C>T:p.Leu6=	coding	Benign
7	101156689	C	T	C101156689T	AP1S1	NM_001283.5(AP1S1):c.99C>T:p.Arg33=	coding	Benign
7	101156707	C	G	C101156707G	AP1S1	NM_001283.5(AP1S1):c.117C>G:p.Val39=	coding	Benign
7	101157375	A	G	A101157375G	AP1S1	NM_001283.5(AP1S1):c.183-2A>G	noncoding	Pathogenic
7	101157380	T	G	T101157380G	AP1S1	NM_001283.5(AP1S1):c.186T>G:p.Tyr62Ter	coding	Pathogenic
7	101157395	C	T	C101157395T	AP1S1	NM_001283.5(AP1S1):c.201C>T:p.Phe67=	coding	Benign
7	101163368	C	G	C101163368G	VGF	NM_003378.4(VGF):c.1476G>C:p.Pro492=	coding	Benign
7	101163863	G	T	G101163863T	VGF	NM_003378.4(VGF):c.981C>A:p.Leu327=	coding	Benign
7	101163922	G	T	G101163922T	VGF	NM_003378.4(VGF):c.922C>A:p.Arg308=	coding	Benign
7	101164031	G	C	G101164031C	VGF	NM_003378.4(VGF):c.813C>G:p.Gly271=	coding	Benign
7	101164525	C	G	C101164525G	VGF	NM_003378.4(VGF):c.319G>C:p.Glu107Gln	coding	Benign
7	101206374	T	C	T101206374C	PLOD3	NM_001084.5(PLOD3):c.2124A>G:p.Ala708=	coding	Benign
7	101206854	C	T	C101206854T	PLOD3	NM_001084.5(PLOD3):c.1986G>A:p.Pro662=	coding	Benign
7	101206863	G	A	G101206863A	PLOD3	NM_001084.5(PLOD3):c.1977C>T:p.Asp659=	coding	Benign
7	101207716	C	T	C101207716T	PLOD3	NM_001084.5(PLOD3):c.1797G>A:p.Arg599=	coding	Benign
7	101210098	C	G	C101210098G	PLOD3	NM_001084.5(PLOD3):c.1678G>C:p.Glu560Gln	coding	Benign/Likely_benign
7	101210417	G	A	G101210417A	PLOD3	NM_001084.5(PLOD3):c.1528C>T:p.His510Tyr	coding	Benign
7	101210630	G	C	G101210630C	PLOD3	NM_001084.5(PLOD3):c.1402C>G:p.Arg468Gly	coding	Benign
7	101211720	C	T	C101211720T	PLOD3	NM_001084.5(PLOD3):c.1233-4G>A	noncoding	Benign
7	101211899	G	A	G101211899A	PLOD3	NM_001084.5(PLOD3):c.1179C>T:p.Ala393=	coding	Benign
7	101211934	C	G	C101211934G	PLOD3	NM_001084.5(PLOD3):c.1144G>C:p.Asp382His	coding	Benign/Likely_benign
7	101212547	G	C	G101212547C	PLOD3	NM_001084.5(PLOD3):c.988C>G:p.Leu330Val	coding	Benign
7	101212560	G	A	G101212560A	PLOD3	NM_001084.5(PLOD3):c.975C>T:p.Pro325=	coding	Benign
7	101212917	G	A	G101212917A	PLOD3	NM_001084.5(PLOD3):c.804C>T:p.Tyr268=	coding	Benign
7	101213149	G	A	G101213149A	PLOD3	NM_001084.5(PLOD3):c.735C>T:p.Tyr245=	coding	Benign
7	101215100	T	C	T101215100C	PLOD3	NM_001084.5(PLOD3):c.668A>G:p.Asn223Ser	coding	Pathogenic
7	101215953	G	A	G101215953A	PLOD3	NM_001084.5(PLOD3):c.570C>T:p.Asp190=	coding	Benign
7	101215988	T	C	T101215988C	PLOD3	NM_001084.5(PLOD3):c.535A>G:p.Ile179Val	coding	Benign
7	101216685	C	T	C101216685T	PLOD3	NM_001084.5(PLOD3):c.201+10G>A	noncoding	Benign
7	101216773	C	T	C101216773T	PLOD3	NM_001084.5(PLOD3):c.123G>A:p.Val41=	coding	Benign
7	101216939	A	G	A101216939G	PLOD3	NM_001084.5(PLOD3):c.110-153T>C	noncoding	Benign
7	102104343	G	A	G102104343A	CUX1	NM_181552.4(CUX1):c.414G>A:p.Thr138=	coding	Benign
7	102196969	C	T	C102196969T	CUX1	NM_181552.4(CUX1):c.1558C>T:p.Gln520Ter	coding	Pathogenic
7	102200162	G	A	G102200162A	CUX1	NM_181552.4(CUX1):c.2052G>A:p.Val684=	coding	Benign
7	102201352	C	T	C102201352T	CUX1	NM_181552.4(CUX1):c.2063-8C>T	noncoding	Benign
7	102202214	C	A	C102202214A	CUX1	NM_181552.4(CUX1):c.2907+10C>A	noncoding	Benign
7	102204564	G	A	G102204564A	CUX1	NM_181552.4(CUX1):c.3073+8G>A	noncoding	Benign
7	102227434	G	A	G102227434A	CUX1	NM_181552.4(CUX1):c.3198G>A:p.Ser1066=	coding	Benign/Likely_benign
7	102239552	C	A	C102239552A	CUX1	NM_181552.4(CUX1):c.3855C>A:p.Thr1285=	coding	Benign
7	102239588	C	T	C102239588T	CUX1	NM_181552.4(CUX1):c.3887+4C>T	noncoding	Benign
7	102248602	G	A	G102248602A	CUX1	NM_181552.4(CUX1):c.4078G>A:p.Glu1360Lys	coding	Benign
7	102439157	C	T	C102439157T	ORAI2	NM_001126340.3(ORAI2):c.201C>T:p.Ser67=	coding	Benign
7	102472258	G	T	G102472258T	LRWD1	NM_152892.3(LRWD1):c.1483G>T:p.Ala495Ser	coding	Benign
7	103119720	T	C	T103119720C	NAPEPLD	NM_001122838.2(NAPEPLD):c.798A>G:p.Leu266=	coding	Benign
7	103128629	G	A	G103128629A	NAPEPLD	NM_001122838.2(NAPEPLD):c.148C>T:p.Leu50=	coding	Benign
7	103303908	G	A	G103303908A	PMPCB	NM_004279.3(PMPCB):c.524G>A:p.Arg175His	coding	Pathogenic
7	103303914	T	G	T103303914G	PMPCB	NM_004279.3(PMPCB):c.530T>G:p.Val177Gly	coding	Pathogenic
7	103311832	T	C	T103311832C	PMPCB	NM_004279.3(PMPCB):c.1265T>C:p.Ile422Thr	coding	Pathogenic
7	103377772	T	C	T103377772C	SLC26A5	NM_198999.3(SLC26A5):c.1813A>G:p.Thr605Ala	coding	Benign/Likely_benign
7	103379330	T	C	T103379330C	SLC26A5	NM_198999.3(SLC26A5):c.1590A>G:p.Lys530=	coding	Benign
7	103380492	G	A	G103380492A	SLC26A5	NM_198999.3(SLC26A5):c.1572C>T:p.Asp524=	coding	Benign/Likely_benign
7	103380593	G	A	G103380593A	SLC26A5	NM_198999.3(SLC26A5):c.1515-44C>T	noncoding	Benign
7	103389401	A	G	A103389401G	SLC26A5	NM_198999.3(SLC26A5):c.1335T>C:p.Ile445=	coding	Benign/Likely_benign
7	103390438	T	C	T103390438C	SLC26A5	NM_198999.3(SLC26A5):c.1302A>G:p.Ser434=	coding	Benign
7	103393049	T	C	T103393049C	SLC26A5	NM_198999.3(SLC26A5):c.989A>G:p.Asn330Ser	coding	Benign/Likely_benign
7	103411414	C	T	C103411414T	SLC26A5	NM_198999.3(SLC26A5):c.570+6G>A	noncoding	Benign
7	103412988	A	G	A103412988G	SLC26A5	NM_198999.3(SLC26A5):c.403+14T>C	noncoding	Benign
7	103413015	T	G	T103413015G	SLC26A5	NM_198999.3(SLC26A5):c.390A>C:p.Arg130Ser	coding	Pathogenic
7	103420821	C	T	C103420821T	SLC26A5	NM_198999.3(SLC26A5):c.209G>A:p.Trp70Ter	coding	Pathogenic
7	103420887	C	T	C103420887T	SLC26A5	NM_198999.3(SLC26A5):c.153-10G>A	noncoding	Benign/Likely_benign
7	103421378	A	G	A103421378G	SLC26A5	NM_198999.3(SLC26A5):c.137T>C:p.Leu46Pro	coding	Benign/Likely_benign
7	103421569	T	C	T103421569C	SLC26A5	NM_198999.3(SLC26A5):c.-53-2A>G	noncoding	Benign
7	103472249	G	T	G103472249T	RELN	NM_005045.4(RELN):c.*563C>A	noncoding	Benign
7	103472415	C	T	C103472415T	RELN	NM_005045.4(RELN):c.*397G>A	noncoding	Benign
7	103472661	A	G	A103472661G	RELN	NM_005045.4(RELN):c.*151T>C	noncoding	Benign
7	103472745	C	T	C103472745T	RELN	NM_005045.4(RELN):c.*67G>A	noncoding	Benign
7	103482982	C	T	C103482982T	RELN	NM_005045.4(RELN):c.10182-11G>A	noncoding	Benign
7	103483760	T	C	T103483760C	RELN	NM_005045.4(RELN):c.10074A>G:p.Ala3358=	coding	Benign
7	103486204	G	A	G103486204A	RELN	NM_005045.4(RELN):c.9976C>T:p.Arg3326Ter	coding	Pathogenic
7	103486277	G	A	G103486277A	RELN	NM_005045.4(RELN):c.9903C>T:p.Tyr3301=	coding	Benign
7	103489504	A	G	A103489504G	RELN	NM_005045.4(RELN):c.9763+238T>C	noncoding	Benign
7	103489775	C	T	C103489775T	RELN	NM_005045.4(RELN):c.9730G>A:p.Gly3244Ser	coding	Benign/Likely_benign
7	103489791	G	A	G103489791A	RELN	NM_005045.4(RELN):c.9714C>T:p.His3238=	coding	Benign
7	103490358	A	G	A103490358G	RELN	NM_005045.4(RELN):c.9605+310T>C	noncoding	Benign
7	103490747	C	T	C103490747T	RELN	NM_005045.4(RELN):c.9526G>A:p.Glu3176Lys	coding	Pathogenic
7	103490749	T	G	T103490749G	RELN	NM_005045.4(RELN):c.9524A>C:p.His3175Pro	coding	Benign
7	103491048	A	C	A103491048C	RELN	NM_005045.4(RELN):c.9444-219T>G	noncoding	Benign
7	103491689	C	T	C103491689T	RELN	NM_005045.4(RELN):c.9443+264G>A	noncoding	Benign
7	103491908	G	T	G103491908T	RELN	NM_005045.4(RELN):c.9443+45C>A	noncoding	Benign
7	103492056	G	C	G103492056C	RELN	NM_005045.4(RELN):c.9370-30C>G	noncoding	Benign
7	103492224	A	T	A103492224T	RELN	NM_005045.4(RELN):c.9370-198T>A	noncoding	Benign
7	103495771	G	A	G103495771A	RELN	NM_005045.4(RELN):c.9321C>T:p.Leu3107=	coding	Benign/Likely_benign
7	103497804	C	T	C103497804T	RELN	NM_005045.4(RELN):c.8950+16G>A	noncoding	Benign
7	103497826	C	T	C103497826T	RELN	NM_005045.4(RELN):c.8944G>A:p.Asp2982Asn	coding	Benign
7	103498070	C	G	C103498070G	RELN	NM_005045.4(RELN):c.8843+7G>C	noncoding	Benign
7	103498109	C	T	C103498109T	RELN	NM_005045.4(RELN):c.8811G>A:p.Ala2937=	coding	Benign
7	103500700	A	G	A103500700G	RELN	NM_005045.4(RELN):c.8667+45T>C	noncoding	Benign
7	103500904	G	A	G103500904A	RELN	NM_005045.4(RELN):c.8508C>T:p.Phe2836=	coding	Benign/Likely_benign
7	103503158	C	A	C103503158A	RELN	NM_005045.4(RELN):c.8347G>T:p.Gly2783Cys	coding	Pathogenic
7	103503472	C	T	C103503472T	RELN	NM_005045.4(RELN):c.8275-242G>A	noncoding	Benign
7	103510989	T	C	T103510989C	RELN	NM_005045.4(RELN):c.8136A>G:p.Leu2712=	coding	Benign
7	103511014	A	G	A103511014G	RELN	NM_005045.4(RELN):c.8120-9T>C	noncoding	Benign/Likely_benign
7	103511325	A	G	A103511325G	RELN	NM_005045.4(RELN):c.8120-320T>C	noncoding	Benign
7	103515218	C	T	C103515218T	RELN	NM_005045.4(RELN):c.8086G>A:p.Ala2696Thr	coding	Benign
7	103515258	A	G	A103515258G	RELN	NM_005045.4(RELN):c.8046T>C:p.His2682=	coding	Benign
7	103515417	A	G	A103515417G	RELN	NM_005045.4(RELN):c.7887T>C:p.Pro2629=	coding	Benign
7	103521923	C	T	C103521923T	RELN	NM_005045.4(RELN):c.7668+99G>A	noncoding	Benign
7	103522160	G	A	G103522160A	RELN	NM_005045.4(RELN):c.7530C>T:p.Pro2510=	coding	Benign
7	103522400	T	C	T103522400C	RELN	NM_005045.4(RELN):c.7491-201A>G	noncoding	Benign
7	103523091	C	T	C103523091T	RELN	NM_005045.4(RELN):c.7490+300G>A	noncoding	Benign
7	103523105	A	C	A103523105C	RELN	NM_005045.4(RELN):c.7490+286T>G	noncoding	Benign
7	103523169	A	C	A103523169C	RELN	NM_005045.4(RELN):c.7490+222T>G	noncoding	Benign
7	103523390	C	T	C103523390T	RELN	NM_005045.4(RELN):c.7490+1G>A	noncoding	Pathogenic
7	103523425	T	C	T103523425C	RELN	NM_005045.4(RELN):c.7456A>G:p.Ser2486Gly	coding	Pathogenic
7	103535518	C	T	C103535518T	RELN	NM_005045.4(RELN):c.7181-34G>A	noncoding	Benign
7	103535605	C	T	C103535605T	RELN	NM_005045.4(RELN):c.7181-121G>A	noncoding	Benign
7	103538939	G	A	G103538939A	RELN	NM_005045.4(RELN):c.7180+139C>T	noncoding	Benign
7	103539147	C	T	C103539147T	RELN	NM_005045.4(RELN):c.7111G>A:p.Ala2371Thr	coding	Benign
7	103539148	A	G	A103539148G	RELN	NM_005045.4(RELN):c.7110T>C:p.Val2370=	coding	Benign
7	103539172	G	A	G103539172A	RELN	NM_005045.4(RELN):c.7086C>T:p.Thr2362=	coding	Benign/Likely_benign
7	103540425	A	G	A103540425G	RELN	NM_005045.4(RELN):c.6702T>C:p.Cys2234=	coding	Benign
7	103540470	C	T	C103540470T	RELN	NM_005045.4(RELN):c.6672-15G>A	noncoding	Benign
7	103542723	A	G	A103542723G	RELN	NM_005045.4(RELN):c.6671+8T>C	noncoding	Benign/Likely_benign
7	103544831	A	G	A103544831G	RELN	NM_005045.4(RELN):c.6523+293T>C	noncoding	Benign
7	103545304	C	T	C103545304T	RELN	NM_005045.4(RELN):c.6343G>A:p.Gly2115Ser	coding	Benign/Likely_benign
7	103545430	C	A	C103545430A	RELN	NM_005045.4(RELN):c.6303-86G>T	noncoding	Benign
7	103550981	C	T	C103550981T	RELN	NM_005045.4(RELN):c.6302+86G>A	noncoding	Benign
7	103551141	G	A	G103551141A	RELN	NM_005045.4(RELN):c.6228C>T:p.Ser2076=	coding	Benign/Likely_benign
7	103551285	G	A	G103551285A	RELN	NM_005045.4(RELN):c.6084C>T:p.Gly2028=	coding	Benign/Likely_benign
7	103551291	G	A	G103551291A	RELN	NM_005045.4(RELN):c.6078C>T:p.Asn2026=	coding	Benign/Likely_benign
7	103551611	T	C	T103551611C	RELN	NM_005045.4(RELN):c.6073-315A>G	noncoding	Benign
7	103551618	C	A	C103551618A	RELN	NM_005045.4(RELN):c.6073-322G>T	noncoding	Benign
7	103553204	T	C	T103553204C	RELN	NM_005045.4(RELN):c.6072+257A>G	noncoding	Benign
7	103553444	A	T	A103553444T	RELN	NM_005045.4(RELN):c.6072+17T>A	noncoding	Benign
7	103553659	C	T	C103553659T	RELN	NM_005045.4(RELN):c.5969+1G>A	noncoding	Pathogenic
7	103553749	T	C	T103553749C	RELN	NM_005045.4(RELN):c.5880A>G:p.Thr1960=	coding	Benign/Likely_benign
7	103553798	A	C	A103553798C	RELN	NM_005045.4(RELN):c.5831T>G:p.Phe1944Cys	coding	Benign
7	103556983	T	C	T103556983C	RELN	NM_005045.4(RELN):c.5791A>G:p.Asn1931Asp	coding	Pathogenic
7	103556999	T	C	T103556999C	RELN	NM_005045.4(RELN):c.5775A>G:p.Arg1925=	coding	Benign
7	103557804	C	A	C103557804A	RELN	NM_005045.4(RELN):c.5614+161G>T	noncoding	Benign
7	103557992	G	A	G103557992A	RELN	NM_005045.4(RELN):c.5587C>T:p.Gln1863Ter	coding	Pathogenic
7	103561288	T	C	T103561288C	RELN	NM_005045.4(RELN):c.5529+244A>G	noncoding	Benign
7	103561385	G	A	G103561385A	RELN	NM_005045.4(RELN):c.5529+147C>T	noncoding	Benign
7	103561810	T	C	T103561810C	RELN	NM_005045.4(RELN):c.5351+3A>G	noncoding	Benign
7	103561880	C	T	C103561880T	RELN	NM_005045.4(RELN):c.5284G>A:p.Val1762Ile	coding	Benign/Likely_benign
7	103561959	C	A	C103561959A	RELN	NM_005045.4(RELN):c.5211-6G>T	noncoding	Benign
7	103564967	T	C	T103564967C	RELN	NM_005045.4(RELN):c.5210+311A>G	noncoding	Benign
7	103565170	A	G	A103565170G	RELN	NM_005045.4(RELN):c.5210+108T>C	noncoding	Benign
7	103565295	G	T	G103565295T	RELN	NM_005045.4(RELN):c.5193C>A:p.Tyr1731Ter	coding	Pathogenic
7	103565400	A	G	A103565400G	RELN	NM_005045.4(RELN):c.5088T>C:p.Leu1696=	coding	Benign/Likely_benign
7	103565502	G	C	G103565502C	RELN	NM_005045.4(RELN):c.4986C>G:p.Thr1662=	coding	Benign/Likely_benign
7	103565566	T	A	T103565566A	RELN	NM_005045.4(RELN):c.4937-15A>T	noncoding	Benign
7	103566226	A	G	A103566226G	RELN	NM_005045.4(RELN):c.4934T>C:p.Ile1645Thr	coding	Benign/Likely_benign
7	103566423	A	G	A103566423G	RELN	NM_005045.4(RELN):c.4748-11T>C	noncoding	Benign
7	103566767	A	C	A103566767C	RELN	NM_005045.4(RELN):c.4589-8T>G	noncoding	Benign
7	103566787	T	C	T103566787C	RELN	NM_005045.4(RELN):c.4589-28A>G	noncoding	Benign
7	103572170	A	G	A103572170G	RELN	NM_005045.4(RELN):c.4588+14T>C	noncoding	Benign
7	103572487	G	A	G103572487A	RELN	NM_005045.4(RELN):c.4512-227C>T	noncoding	Benign
7	103574493	T	C	T103574493C	RELN	NM_005045.4(RELN):c.4304-194A>G	noncoding	Benign
7	103590094	A	C	A103590094C	RELN	NM_005045.4(RELN):c.3913-266T>G	noncoding	Benign
7	103593755	C	T	C103593755T	RELN	NM_005045.4(RELN):c.3839G>A:p.Gly1280Glu	coding	Benign/Likely_benign
7	103593882	T	G	T103593882G	RELN	NM_005045.4(RELN):c.3712A>C:p.Asn1238His	coding	Benign/Likely_benign
7	103594685	G	A	G103594685A	RELN	NM_005045.4(RELN):c.3540-193C>T	noncoding	Benign
7	103603045	T	C	T103603045C	RELN	NM_005045.4(RELN):c.3333+259A>G	noncoding	Benign
7	103604369	G	A	G103604369A	RELN	NM_005045.4(RELN):c.3123C>T:p.Gly1041=	coding	Benign/Likely_benign
7	103604432	G	A	G103604432A	RELN	NM_005045.4(RELN):c.3060C>T:p.Asp1020=	coding	Benign/Likely_benign
7	103610714	G	C	G103610714C	RELN	NM_005045.4(RELN):c.2989C>G:p.Leu997Val	coding	Benign
7	103610771	T	C	T103610771C	RELN	NM_005045.4(RELN):c.2932A>G:p.Thr978Ala	coding	Benign
7	103610796	T	C	T103610796C	RELN	NM_005045.4(RELN):c.2907A>G:p.Pro969=	coding	Benign
7	103629641	T	A	T103629641A	RELN	NM_005045.4(RELN):c.2702+299A>T	noncoding	Benign
7	103630111	G	A	G103630111A	RELN	NM_005045.4(RELN):c.2531C>T:p.Pro844Leu	coding	Pathogenic
7	103635356	T	C	T103635356C	RELN	NM_005045.4(RELN):c.2465+69A>G	noncoding	Benign
7	103635498	G	T	G103635498T	RELN	NM_005045.4(RELN):c.2392C>A:p.His798Asn	coding	Pathogenic
7	103636250	T	C	T103636250C	RELN	NM_005045.4(RELN):c.2288A>G:p.Asp763Gly	coding	Pathogenic
7	103636370	T	C	T103636370C	RELN	NM_005045.4(RELN):c.2168A>G:p.Tyr723Cys	coding	Pathogenic
7	103640449	C	T	C103640449T	RELN	NM_005045.4(RELN):c.2069+94G>A	noncoding	Benign
7	103640907	C	A	C103640907A	RELN	NM_005045.4(RELN):c.2003-298G>T	noncoding	Benign
7	103650553	T	A	T103650553A	RELN	NM_005045.4(RELN):c.1893-170A>T	noncoding	Benign
7	103651378	C	T	C103651378T	RELN	NM_005045.4(RELN):c.1892+283G>A	noncoding	Benign
7	103651665	T	G	T103651665G	RELN	NM_005045.4(RELN):c.1888A>C:p.Ser630Arg	coding	Benign
7	103651729	G	A	G103651729A	RELN	NM_005045.4(RELN):c.1824C>T:p.Cys608=	coding	Benign/Likely_benign
7	103651754	G	A	G103651754A	RELN	NM_005045.4(RELN):c.1799C>T:p.Ser600Phe	coding	Benign
7	103651777	T	C	T103651777C	RELN	NM_005045.4(RELN):c.1776A>G:p.Glu592=	coding	Benign
7	103652040	T	C	T103652040C	RELN	NM_005045.4(RELN):c.1764-251A>G	noncoding	Benign
7	103652718	C	T	C103652718T	RELN	NM_005045.4(RELN):c.1596G>A:p.Gln532=	coding	Benign
7	103652720	G	A	G103652720A	RELN	NM_005045.4(RELN):c.1594C>T:p.Gln532Ter	coding	Pathogenic
7	103653858	T	C	T103653858C	RELN	NM_005045.4(RELN):c.1554+235A>G	noncoding	Benign
7	103654000	C	G	C103654000G	RELN	NM_005045.4(RELN):c.1554+93G>C	noncoding	Benign
7	103654213	A	G	A103654213G	RELN	NM_005045.4(RELN):c.1442-8T>C	noncoding	Benign/Likely_benign
7	103661440	C	T	C103661440T	RELN	NM_005045.4(RELN):c.1377G>A:p.Arg459=	coding	Benign/Likely_benign
7	103661832	C	G	C103661832G	RELN	NM_005045.4(RELN):c.1290-305G>C	noncoding	Benign
7	103697770	T	C	T103697770C	RELN	NM_005045.4(RELN):c.1143+83A>G	noncoding	Benign
7	103697921	C	T	C103697921T	RELN	NM_005045.4(RELN):c.1075G>A:p.Val359Ile	coding	Benign
7	103697970	G	T	G103697970T	RELN	NM_005045.4(RELN):c.1026C>A:p.Cys342Ter	coding	Pathogenic
7	103698012	C	T	C103698012T	RELN	NM_005045.4(RELN):c.984G>A:p.Trp328Ter	coding	Pathogenic
7	103698090	G	A	G103698090A	RELN	NM_005045.4(RELN):c.906C>T:p.Ala302=	coding	Benign/Likely_benign
7	103749461	G	A	G103749461A	RELN	NM_005045.4(RELN):c.621C>T:p.Asp207=	coding	Benign
7	103749507	A	G	A103749507G	RELN	NM_005045.4(RELN):c.578-3T>C	noncoding	Benign
7	103753194	G	A	G103753194A	RELN	NM_005045.4(RELN):c.565C>T:p.His189Tyr	coding	Benign
7	103833211	C	T	C103833211T	RELN	NM_005045.4(RELN):c.473+326G>A	noncoding	Benign
7	103833515	G	A	G103833515A	RELN	NM_005045.4(RELN):c.473+22C>T	noncoding	Benign
7	103833594	G	C	G103833594C	RELN	NM_005045.4(RELN):c.416C>G:p.Thr139Ser	coding	Benign
7	103917166	G	C	G103917166C	RELN	NM_005045.4(RELN):c.246C>G:p.Thr82=	coding	Benign/Likely_benign
7	103989331	T	G	T103989331G	RELN	NM_005045.4(RELN):c.26A>C:p.Gln9Pro	coding	Benign/Likely_benign
7	104328851	G	A	G104328851A	LHFPL3	NM_199000.2(LHFPL3):c.72G>A:p.Leu24=	coding	Benign
7	104329077	C	T	C104329077T	LHFPL3	NM_199000.2(LHFPL3):c.298C>T:p.Leu100=	coding	Benign
7	105102105	G	T	G105102105T	KMT2E	NM_182931.3(KMT2E):c.2107G>T:p.Glu703Ter	coding	Pathogenic
7	105105579	C	A	C105105579A	KMT2E	NM_182931.3(KMT2E):c.2337C>A:p.Tyr779Ter	coding	Pathogenic
7	105106545	C	T	C105106545T	KMT2E	NM_182931.3(KMT2E):c.2620C>T:p.Arg874Ter	coding	Pathogenic/Likely_pathogenic
7	105142201	T	C	T105142201C	SRPK2	NM_182692.3(SRPK2):c.1350A>G:p.Pro450=	coding	Benign
7	105142426	A	G	A105142426G	SRPK2	NM_182692.3(SRPK2):c.1125T>C:p.Asp375=	coding	Benign
7	105142441	A	T	A105142441T	SRPK2	NM_182692.3(SRPK2):c.1110T>A:p.Ile370=	coding	Benign
7	105168092	C	T	C105168092T	SRPK2	NM_182692.3(SRPK2):c.342G>A:p.Gly114=	coding	Benign
7	105203782	C	T	C105203782T	SRPK2	NM_182692.3(SRPK2):c.75G>A:p.Pro25=	coding	Benign
7	105468355	C	A	C105468355A	PUS7	NM_019042.5(PUS7):c.1507G>T:p.Asp503Tyr	coding	Pathogenic
7	105470697	T	C	T105470697C	PUS7	NM_019042.5(PUS7):c.1389A>G:p.Ala463=	coding	Benign
7	105470738	G	A	G105470738A	PUS7	NM_019042.5(PUS7):c.1348C>T:p.Arg450Ter	coding	Pathogenic
7	105536594	A	T	A105536594T	RINT1	NM_021930.6(RINT1):c.118A>T:p.Ser40Cys	coding	Benign
7	105542509	T	C	T105542509C	RINT1	NM_021930.6(RINT1):c.375T>C:p.Thr125=	coding	Benign
7	105542548	G	A	G105542548A	RINT1	NM_021930.6(RINT1):c.414G>A:p.Ala138=	coding	Benign
7	105542599	C	T	C105542599T	RINT1	NM_021930.6(RINT1):c.465C>T:p.Ile155=	coding	Benign
7	105546937	C	T	C105546937T	RINT1	NM_021930.6(RINT1):c.543C>T:p.Thr181=	coding	Benign
7	105547226	C	T	C105547226T	RINT1	NM_021930.6(RINT1):c.732C>T:p.Ile244=	coding	Benign
7	105547277	G	A	G105547277A	RINT1	NM_021930.6(RINT1):c.783G>A:p.Pro261=	coding	Benign
7	105548549	G	A	G105548549A	RINT1	NM_021930.6(RINT1):c.840-5G>A	noncoding	Benign
7	105550083	T	C	T105550083C	RINT1	NM_021930.6(RINT1):c.1025T>C:p.Met342Thr	coding	Benign
7	105550159	C	T	C105550159T	RINT1	NM_021930.6(RINT1):c.1101C>T:p.Asn367=	coding	Benign
7	105550160	G	A	G105550160A	RINT1	NM_021930.6(RINT1):c.1102G>A:p.Ala368Thr	coding	Pathogenic
7	105550262	T	C	T105550262C	RINT1	NM_021930.6(RINT1):c.1109T>C:p.Leu370Pro	coding	Pathogenic
7	105550487	G	T	G105550487T	RINT1	NM_021930.6(RINT1):c.1333+1G>T	coding	Pathogenic
7	105551610	T	C	T105551610C	RINT1	NM_021930.6(RINT1):c.1374T>C:p.Ala458=	coding	Benign
7	105551717	T	C	T105551717C	RINT1	NM_021930.6(RINT1):c.1471+10T>C	noncoding	Benign
7	105555212	T	C	T105555212C	RINT1	NM_021930.6(RINT1):c.1656T>C:p.Asp552=	coding	Benign
7	105565352	G	A	G105565352A	RINT1	NM_021930.6(RINT1):c.1962G>A:p.Thr654=	coding	Benign
7	105565368	C	A	C105565368A	RINT1	NM_021930.6(RINT1):c.1978C>A:p.Leu660Ile	coding	Benign
7	105565393	T	C	T105565393C	RINT1	NM_021930.6(RINT1):c.2003T>C:p.Phe668Ser	coding	Benign
7	105565463	T	A	T105565463A	RINT1	NM_021930.6(RINT1):c.2067+6T>A	noncoding	Benign
7	105565470	A	C	A105565470C	RINT1	NM_021930.6(RINT1):c.2067+13A>C	noncoding	Benign
7	105567302	T	C	T105567302C	RINT1	NM_021930.6(RINT1):c.2370T>C:p.Thr790=	coding	Benign
7	106004646	C	T	C106004646T	CDHR3	NM_152750.5(CDHR3):c.1011C>T:p.Asp337=	coding	Benign
7	106013004	G	A	G106013004A	CDHR3	NM_152750.5(CDHR3):c.1197G>A:p.Gln399=	coding	Benign
7	106251201	A	G	A106251201G	NAMPT	NM_005746.3(NAMPT):c.1366-8T>C	noncoding	Benign
7	106261675	A	G	A106261675G	NAMPT	NM_005746.3(NAMPT):c.1002T>C:p.Val334=	coding	Benign
7	106261678	A	G	A106261678G	NAMPT	NM_005746.3(NAMPT):c.999T>C:p.Pro333=	coding	Benign
7	106277036	A	G	A106277036G	NAMPT	NM_005746.3(NAMPT):c.201T>C:p.Asn67=	coding	Benign
7	106867819	C	T	C106867819T	PIK3CG	NM_001282426.2(PIK3CG):c.258C>T:p.Asp86=	coding	Benign
7	106867951	G	C	G106867951C	PIK3CG	NM_001282426.2(PIK3CG):c.390G>C:p.Arg130=	coding	Benign
7	106868272	C	T	C106868272T	PIK3CG	NM_001282426.2(PIK3CG):c.711C>T:p.Pro237=	coding	Benign
7	106868550	C	T	C106868550T	PIK3CG	NM_001282426.2(PIK3CG):c.989C>T:p.Thr330Met	coding	Benign
7	106869283	G	A	G106869283A	PIK3CG	NM_001282426.2(PIK3CG):c.1722G>A:p.Leu574=	coding	Benign/Likely_benign
7	106869488	A	G	A106869488G	PIK3CG	NM_001282426.2(PIK3CG):c.1927A>G:p.Ile643Val	coding	Benign
7	107044982	C	A	C107044982A	PRKAR2B	NM_002736.3(PRKAR2B):c.75C>A:p.Pro25=	coding	Benign
7	107070321	G	A	G107070321A	PRKAR2B	NM_002736.3(PRKAR2B):c.343+5G>A	noncoding	Benign
7	107153221	A	G	A107153221G	PRKAR2B	NM_002736.3(PRKAR2B):c.888A>G:p.Val296=	coding	Benign
7	107159513	C	T	C107159513T	PRKAR2B	NM_002736.3(PRKAR2B):c.1188C>T:p.Ile396=	coding	Benign
7	107202688	G	C	G107202688C	COG5	NM_006348.5(COG5):c.*828C>G	noncoding	Benign
7	107203581	C	A	C107203581A	COG5	NM_006348.5(COG5):c.2425G>T:p.Glu809Ter	coding	Pathogenic
7	107236557	T	G	T107236557G	COG5	NM_006348.5(COG5):c.1984A>C:p.Thr662Pro	coding	Pathogenic
7	107248422	G	A	G107248422A	COG5	NM_006348.5(COG5):c.1827C>T:p.Ile609=	coding	Benign
7	107256792	A	C	A107256792C	COG5	NM_006348.5(COG5):c.1689T>G:p.Val563=	coding	Benign
7	107256794	C	A	C107256794A	COG5	NM_006348.5(COG5):c.1687G>T:p.Val563Phe	coding	Pathogenic
7	107258276	T	C	T107258276C	COG5	NM_006348.5(COG5):c.1683A>G:p.Thr561=	coding	Benign
7	107258398	T	C	T107258398C	COG5	NM_006348.5(COG5):c.1576-15A>G	noncoding	Pathogenic
7	107298165	G	T	G107298165T	COG5	NM_006348.5(COG5):c.1290C>A:p.Phe430Leu	coding	Benign/Likely_benign
7	107298198	T	C	T107298198C	COG5	NM_006348.5(COG5):c.1257A>G:p.Leu419=	coding	Benign
7	107298258	G	T	G107298258T	COG5	NM_006348.5(COG5):c.1197C>A:p.Tyr399Ter	coding	Pathogenic
7	107362059	T	C	T107362059C	COG5	NM_006348.5(COG5):c.1000A>G:p.Ile334Val	coding	Benign
7	107362128	T	C	T107362128C	COG5	NM_006348.5(COG5):c.949-18A>G	noncoding	Benign
7	107362361	A	G	A107362361G	COG5	NM_006348.5(COG5):c.895T>C:p.Phe299Leu	coding	Benign
7	107362380	A	C	A107362380C	COG5	NM_006348.5(COG5):c.876T>G:p.Thr292=	coding	Benign/Likely_benign
7	107372695	A	T	A107372695T	COG5	NM_006348.5(COG5):c.735T>A:p.Ile245=	coding	Benign/Likely_benign
7	107412649	C	T	C107412649T	COG5	NM_006348.5(COG5):c.539-17G>A	noncoding	Benign
7	107527288	G	A	G107527288A	COG5	NM_006348.5(COG5):c.487C>T:p.Gln163Ter	coding	Pathogenic
7	107527324	T	C	T107527324C	COG5	NM_006348.5(COG5):c.451A>G:p.Ile151Val	coding	Benign/Likely_benign
7	107548274	G	T	G107548274T	COG5	NM_006348.5(COG5):c.347+4C>A	noncoding	Benign
7	107548350	T	C	T107548350C	COG5	NM_006348.5(COG5):c.293-18A>G	noncoding	Benign
7	107557960	A	T	A107557960T	COG5	NM_006348.5(COG5):c.234+16T>A	noncoding	Benign
7	107557990	C	A	C107557990A	COG5	NM_006348.5(COG5):c.220G>T:p.Glu74Ter	coding	Pathogenic
7	107563895	A	C	A107563895C	COG5	NM_006348.5(COG5):c.2T>G:p.Met1Arg	coding	Pathogenic
7	107563926	C	T	C107563926T	COG5	NG_028095.1(COG5):g.5589G>A	coding	Benign
7	107563995	C	T	C107563995T	COG5	NM_181581.3(DUS4L):c.-325C>T	noncoding	Benign
7	107564376	G	C	G107564376C	COG5	NM_181581.3(DUS4L):c.-111+167G>C	noncoding	Benign
7	107660793	C	G	C107660793G	SLC26A4	NM_000441.1(SLC26A4):c.-66C>G	noncoding	Benign/Likely_benign
7	107661637	A	G	A107661637G	SLC26A4;SLC26A4-AS1	NM_000441.2(SLC26A4):c.-3-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	107661643	T	C	T107661643C	SLC26A4	NM_000441.2(SLC26A4):c.2T>C:p.Met1Thr	coding	Pathogenic
7	107661644	G	C	G107661644C	SLC26A4	NM_000441.2(SLC26A4):c.3G>C:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
7	107661709	C	A	C107661709A	SLC26A4	NM_000441.2(SLC26A4):c.68C>A:p.Ser23Ter	coding	Pathogenic/Likely_pathogenic
7	107661723	A	G	A107661723G	SLC26A4	NM_000441.2(SLC26A4):c.82A>G:p.Ser28Gly	coding	Pathogenic
7	107661725	C	A	C107661725A	SLC26A4	NM_000441.2(SLC26A4):c.84C>A:p.Ser28Arg	coding	Pathogenic/Likely_pathogenic
7	107661726	G	C	G107661726C	SLC26A4	NM_000441.2(SLC26A4):c.85G>C:p.Glu29Gln	coding	Pathogenic
7	107661726	G	T	G107661726T	SLC26A4	NM_000441.2(SLC26A4):c.85G>T:p.Glu29Ter	coding	Pathogenic/Likely_pathogenic
7	107661750	G	T	G107661750T	SLC26A4	NM_000441.2(SLC26A4):c.109G>T:p.Glu37Ter	coding	Pathogenic
7	107661783	G	T	G107661783T	SLC26A4	NM_000441.2(SLC26A4):c.142G>T:p.Glu48Ter	coding	Pathogenic/Likely_pathogenic
7	107661795	A	T	A107661795T	SLC26A4	NM_000441.2(SLC26A4):c.154A>T:p.Lys52Ter	coding	Pathogenic
7	107661807	T	C	T107661807C	SLC26A4	NM_000441.2(SLC26A4):c.164+2T>C	noncoding	Pathogenic
7	107663295	G	A	G107663295A	SLC26A4	NM_000441.2(SLC26A4):c.165-1G>A	noncoding	Pathogenic/Likely_pathogenic
7	107663357	C	T	C107663357T	SLC26A4	NM_000441.2(SLC26A4):c.226C>T:p.Pro76Ser	coding	Pathogenic
7	107663366	C	T	C107663366T	SLC26A4	NM_000441.2(SLC26A4):c.235C>T:p.Arg79Ter	coding	Pathogenic/Likely_pathogenic
7	107663380	G	A	G107663380A	SLC26A4	NM_000441.2(SLC26A4):c.249G>A:p.Trp83Ter	coding	Pathogenic
7	107663412	C	T	C107663412T	SLC26A4	NM_000441.2(SLC26A4):c.281C>T:p.Thr94Ile	coding	Pathogenic
7	107663432	C	T	C107663432T	SLC26A4	NM_000441.2(SLC26A4):c.301C>T:p.Gln101Ter	coding	Pathogenic
7	107663437	T	C	T107663437C	SLC26A4	NM_000441.2(SLC26A4):c.304+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	107672150	C	T	C107672150T	SLC26A4	NM_000441.2(SLC26A4):c.317C>T:p.Ala106Val	coding	Pathogenic
7	107672245	G	T	G107672245T	SLC26A4	NM_000441.2(SLC26A4):c.412G>T:p.Val138Phe	coding	Pathogenic
7	107672255	A	G	A107672255G	SLC26A4	NM_000441.2(SLC26A4):c.415+7A>G	noncoding	Pathogenic
7	107674148	G	T	G107674148T	SLC26A4	NM_000441.2(SLC26A4):c.416-16G>T	noncoding	Benign/Likely_benign
7	107674157	T	C	T107674157C	SLC26A4	NM_000441.2(SLC26A4):c.416-7T>C	noncoding	Benign
7	107674163	G	A	G107674163A	SLC26A4	NM_000441.2(SLC26A4):c.416-1G>A	noncoding	Pathogenic
7	107674313	G	T	G107674313T	SLC26A4	NM_000441.2(SLC26A4):c.565G>T:p.Ala189Ser	coding	Benign
7	107674326	C	T	C107674326T	SLC26A4	NM_000441.2(SLC26A4):c.578C>T:p.Thr193Ile	coding	Pathogenic/Likely_pathogenic
7	107674337	G	A	G107674337A	SLC26A4	NM_000441.2(SLC26A4):c.589G>A:p.Gly197Arg	coding	Pathogenic
7	107674337	G	T	G107674337T	SLC26A4	NM_000441.2(SLC26A4):c.589G>T:p.Gly197Ter	coding	Pathogenic
7	107674350	T	A	T107674350A	SLC26A4	NM_000441.2(SLC26A4):c.600+2T>A	noncoding	Pathogenic
7	107674944	G	A	G107674944A	SLC26A4	NM_000441.2(SLC26A4):c.601-1G>A	noncoding	Pathogenic
7	107674970	G	T	G107674970T	SLC26A4	NM_000441.2(SLC26A4):c.626G>T:p.Gly209Val	coding	Pathogenic
7	107674985	A	G	A107674985G	SLC26A4	NM_000441.2(SLC26A4):c.641A>G:p.Tyr214Cys	coding	Pathogenic
7	107675051	T	C	T107675051C	SLC26A4	NM_000441.2(SLC26A4):c.707T>C:p.Leu236Pro	coding	Pathogenic
7	107675060	T	A	T107675060A	SLC26A4	NM_000441.2(SLC26A4):c.716T>A:p.Val239Asp	coding	Pathogenic/Likely_pathogenic
7	107675111	T	C	T107675111C	SLC26A4	NM_000441.2(SLC26A4):c.765+2T>C	noncoding	Pathogenic
7	107683285	G	C	G107683285C	SLC26A4	NM_000441.2(SLC26A4):c.849G>C:p.Met283Ile	coding	Benign/Likely_benign
7	107683334	A	C	A107683334C	SLC26A4	NM_000441.2(SLC26A4):c.898A>C:p.Ile300Leu	coding	Benign/Likely_benign
7	107683356	T	C	T107683356C	SLC26A4	NM_000441.2(SLC26A4):c.918+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	107683453	A	G	A107683453G	SLC26A4	NM_000441.2(SLC26A4):c.919-2A>G	noncoding	Pathogenic
7	107683477	C	G	C107683477G	SLC26A4	NM_000441.2(SLC26A4):c.941C>G:p.Ser314Ter	coding	Pathogenic
7	107683482	G	T	G107683482T	SLC26A4	NM_000441.2(SLC26A4):c.946G>T:p.Gly316Ter	coding	Pathogenic
7	107683506	A	T	A107683506T	SLC26A4	NM_000441.2(SLC26A4):c.970A>T:p.Asn324Tyr	coding	Benign/Likely_benign
7	107683538	G	A	G107683538A	SLC26A4	NM_000441.2(SLC26A4):c.1001+1G>A	coding	Pathogenic
7	107683538	G	T	G107683538T	SLC26A4	NM_000441.2(SLC26A4):c.1001+1G>T	coding	Pathogenic/Likely_pathogenic
7	107689044	A	C	A107689044C	SLC26A4	NM_000441.2(SLC26A4):c.1002-9A>C	noncoding	Benign/Likely_benign
7	107689120	G	A	G107689120A	SLC26A4	NM_000441.2(SLC26A4):c.1069G>A:p.Ala357Thr	coding	Benign
7	107689130	C	T	C107689130T	SLC26A4	NM_000441.2(SLC26A4):c.1079C>T:p.Ala360Val	coding	Pathogenic/Likely_pathogenic
7	107689138	A	C	A107689138C	SLC26A4	NM_000441.2(SLC26A4):c.1087A>C:p.Ile363Leu	coding	Pathogenic
7	107689156	A	T	A107689156T	SLC26A4	NM_000441.2(SLC26A4):c.1105A>T:p.Lys369Ter	coding	Pathogenic/Likely_pathogenic
7	107689166	C	T	C107689166T	SLC26A4	NM_000441.2(SLC26A4):c.1115C>T:p.Ala372Val	coding	Pathogenic
7	107689203	A	G	A107689203G	SLC26A4	NM_000441.2(SLC26A4):c.1149+3A>G	noncoding	Pathogenic
7	107690125	A	G	A107690125G	SLC26A4	NM_000441.2(SLC26A4):c.1151A>G:p.Glu384Gly	coding	Pathogenic/Likely_pathogenic
7	107690145	A	C	A107690145C	SLC26A4	NM_000441.2(SLC26A4):c.1171A>C:p.Ser391Arg	coding	Pathogenic
7	107690148	A	T	A107690148T	SLC26A4	NM_000441.2(SLC26A4):c.1174A>T:p.Asn392Tyr	coding	Pathogenic
7	107690178	G	A	G107690178A	SLC26A4	NM_000441.2(SLC26A4):c.1204G>A:p.Val402Met	coding	Pathogenic
7	107690199	C	T	C107690199T	SLC26A4	NM_000441.2(SLC26A4):c.1225C>T:p.Arg409Cys	coding	Pathogenic/Likely_pathogenic
7	107690200	G	A	G107690200A	SLC26A4	NM_000441.2(SLC26A4):c.1226G>A:p.Arg409His	coding	Pathogenic
7	107690203	C	T	C107690203T	SLC26A4	NM_000441.2(SLC26A4):c.1229C>T:p.Thr410Met	coding	Pathogenic
7	107690212	A	G	A107690212G	SLC26A4	NM_000441.2(SLC26A4):c.1238A>G:p.Gln413Arg	coding	Pathogenic/Likely_pathogenic
7	107690220	A	C	A107690220C	SLC26A4	NM_000441.2(SLC26A4):c.1246A>C:p.Thr416Pro	coding	Pathogenic
7	107694400	C	G	C107694400G	SLC26A4	NM_000441.2(SLC26A4):c.1264-3C>G	noncoding	Pathogenic
7	107694402	G	C	G107694402C	SLC26A4	NM_000441.2(SLC26A4):c.1264-1G>C	noncoding	Pathogenic/Likely_pathogenic
7	107694457	A	T	A107694457T	SLC26A4	NM_000441.2(SLC26A4):c.1318A>T:p.Lys440Ter	coding	Pathogenic
7	107694473	T	G	T107694473G	SLC26A4	NM_000441.2(SLC26A4):c.1334T>G:p.Leu445Trp	coding	Pathogenic
7	107694475	C	T	C107694475T	SLC26A4	NM_000441.2(SLC26A4):c.1336C>T:p.Gln446Ter	coding	Pathogenic/Likely_pathogenic
7	107694478	A	T	A107694478T	SLC26A4	NM_000441.2(SLC26A4):c.1339A>T:p.Lys447Ter	coding	Pathogenic
7	107694481	G	C	G107694481C	SLC26A4	NM_000441.2(SLC26A4):c.1341+1G>C	coding	Pathogenic
7	107694642	A	T	A107694642T	SLC26A4	NM_000441.2(SLC26A4):c.1363A>T:p.Ile455Phe	coding	Benign
7	107694694	G	A	G107694694A	SLC26A4	NM_000441.2(SLC26A4):c.1415G>A:p.Trp472Ter	coding	Pathogenic/Likely_pathogenic
7	107694718	T	G	T107694718G	SLC26A4	NM_000441.2(SLC26A4):c.1437+2T>G	noncoding	Pathogenic/Likely_pathogenic
7	107695965	C	T	C107695965T	SLC26A4	NM_000441.2(SLC26A4):c.1470C>T:p.Ile490=	coding	Benign/Likely_benign
7	107695983	C	T	C107695983T	SLC26A4	NM_000441.2(SLC26A4):c.1488C>T:p.Leu496=	coding	Benign/Likely_benign
7	107695984	G	A	G107695984A	SLC26A4	NM_000441.2(SLC26A4):c.1489G>A:p.Gly497Ser	coding	Pathogenic
7	107696017	A	G	A107696017G	SLC26A4	NM_000441.2(SLC26A4):c.1522A>G:p.Thr508Ala	coding	Pathogenic/Likely_pathogenic
7	107696035	C	A	C107696035A	SLC26A4	NM_000441.2(SLC26A4):c.1540C>A:p.Gln514Lys	coding	Pathogenic
7	107696036	A	G	A107696036G	SLC26A4	NM_000441.2(SLC26A4):c.1541A>G:p.Gln514Arg	coding	Pathogenic
7	107696040	G	A	G107696040A	SLC26A4	NM_000441.2(SLC26A4):c.1544+1G>A	coding	Pathogenic/Likely_pathogenic
7	107698037	T	G	T107698037G	SLC26A4	NM_000441.2(SLC26A4):c.1545-5T>G	noncoding	Benign/Likely_benign
7	107698051	G	A	G107698051A	SLC26A4	NM_000441.2(SLC26A4):c.1554G>A:p.Trp518Ter	coding	Pathogenic
7	107698076	A	C	A107698076C	SLC26A4	NM_000441.2(SLC26A4):c.1579A>C:p.Thr527Pro	coding	Pathogenic/Likely_pathogenic
7	107698083	T	G	T107698083G	SLC26A4	NM_000441.2(SLC26A4):c.1586T>G:p.Ile529Ser	coding	Pathogenic/Likely_pathogenic
7	107698085	T	C	T107698085C	SLC26A4	NM_000441.2(SLC26A4):c.1588T>C:p.Tyr530His	coding	Pathogenic/Likely_pathogenic
7	107698112	G	A	G107698112A	SLC26A4	NM_000441.2(SLC26A4):c.1614+1G>A	coding	Pathogenic
7	107698112	G	C	G107698112C	SLC26A4	NM_000441.2(SLC26A4):c.1614+1G>C	coding	Pathogenic/Likely_pathogenic
7	107698119	C	T	C107698119T	SLC26A4	NM_000441.2(SLC26A4):c.1614+8C>T	noncoding	Benign/Likely_benign
7	107700135	A	G	A107700135G	SLC26A4	NM_000441.2(SLC26A4):c.1667A>G:p.Tyr556Cys	coding	Pathogenic/Likely_pathogenic
7	107700180	G	A	G107700180A	SLC26A4	NM_000441.2(SLC26A4):c.1707+5G>A	noncoding	Pathogenic
7	107701083	T	A	T107701083A	SLC26A4	NM_000441.2(SLC26A4):c.1708-18T>A	noncoding	Benign
7	107701104	G	T	G107701104T	SLC26A4	NM_000441.2(SLC26A4):c.1711G>T:p.Gly571Ter	coding	Pathogenic
7	107701849	T	G	T107701849G	SLC26A4	NM_000441.2(SLC26A4):c.1826T>G:p.Val609Gly	coding	Benign/Likely_benign
7	107701943	G	A	G107701943A	SLC26A4	NM_000441.2(SLC26A4):c.1920G>A:p.Trp640Ter	coding	Pathogenic/Likely_pathogenic
7	107701998	G	C	G107701998C	SLC26A4	NM_000441.2(SLC26A4):c.1975G>C:p.Val659Leu	coding	Pathogenic/Likely_pathogenic
7	107702023	T	G	T107702023G	SLC26A4	NM_000441.2(SLC26A4):c.2000T>G:p.Phe667Cys	coding	Pathogenic
7	107702030	C	A	C107702030A	SLC26A4	NM_000441.2(SLC26A4):c.2007C>A:p.Asp669Glu	coding	Pathogenic
7	107702050	T	A	T107702050A	SLC26A4	NM_000441.2(SLC26A4):c.2027T>A:p.Leu676Gln	coding	Pathogenic/Likely_pathogenic
7	107704340	G	T	G107704340T	SLC26A4	NM_000441.2(SLC26A4):c.2044G>T:p.Glu682Ter	coding	Pathogenic
7	107704370	T	C	T107704370C	SLC26A4	NM_000441.2(SLC26A4):c.2074T>C:p.Phe692Leu	coding	Pathogenic
7	107704382	C	T	C107704382T	SLC26A4	NM_000441.2(SLC26A4):c.2086C>T:p.Gln696Ter	coding	Pathogenic/Likely_pathogenic
7	107704386	G	A	G107704386A	SLC26A4	NM_000441.2(SLC26A4):c.2089+1G>A	coding	Pathogenic
7	107710072	T	C	T107710072C	SLC26A4	NM_000441.2(SLC26A4):c.2108T>C:p.Leu703Pro	coding	Pathogenic
7	107710082	C	A	C107710082A	SLC26A4	NM_000441.2(SLC26A4):c.2118C>A:p.Cys706Ter	coding	Pathogenic
7	107710094	C	T	C107710094T	SLC26A4	NM_000441.2(SLC26A4):c.2130C>T:p.Asp710=	coding	Benign/Likely_benign
7	107710103	T	G	T107710103G	SLC26A4	NM_000441.2(SLC26A4):c.2139T>G:p.Ile713Met	coding	Benign/Likely_benign
7	107710126	C	T	C107710126T	SLC26A4	NM_000441.2(SLC26A4):c.2162C>T:p.Thr721Met	coding	Pathogenic
7	107710131	C	G	C107710131G	SLC26A4	NM_000441.2(SLC26A4):c.2167C>G:p.His723Asp	coding	Pathogenic
7	107710132	A	G	A107710132G	SLC26A4	NM_000441.2(SLC26A4):c.2168A>G:p.His723Arg	coding	Pathogenic/Likely_pathogenic
7	107710135	A	G	A107710135G	SLC26A4	NM_000441.2(SLC26A4):c.2171A>G:p.Asp724Gly	coding	Pathogenic/Likely_pathogenic
7	107710152	C	T	C107710152T	SLC26A4	NM_000441.2(SLC26A4):c.2188C>T:p.Gln730Ter	coding	Pathogenic
7	107710170	C	T	C107710170T	SLC26A4	NM_000441.2(SLC26A4):c.2206C>T:p.Gln736Ter	coding	Pathogenic
7	107710179	C	T	C107710179T	SLC26A4	NM_000441.2(SLC26A4):c.2215C>T:p.Gln739Ter	coding	Pathogenic/Likely_pathogenic
7	107710182	G	A	G107710182A	SLC26A4	NM_000441.2(SLC26A4):c.2218G>A:p.Gly740Ser	coding	Benign/Likely_benign
7	107710192	T	A	T107710192A	SLC26A4	NM_000441.2(SLC26A4):c.2228T>A:p.Leu743Ter	coding	Pathogenic
7	107712623	G	A	G107712623A	SLC26A4	NM_000441.2(SLC26A4):c.2319+1G>A	coding	Pathogenic/Likely_pathogenic
7	107715457	G	A	G107715457A	SLC26A4	NM_000441.2(SLC26A4):c.*11G>A	noncoding	Benign/Likely_benign
7	107716314	G	A	G107716314A	SLC26A4	NM_000441.2(SLC26A4):c.*868G>A	noncoding	Benign
7	107716748	T	G	T107716748G	SLC26A4	NM_000441.2(SLC26A4):c.*1302T>G	noncoding	Benign/Likely_benign
7	107765469	C	T	C107765469T	SLC26A3	NM_000111.2(SLC26A3):c.*386G>A	noncoding	Benign
7	107767592	T	C	T107767592C	SLC26A3	NM_000111.2(SLC26A3):c.2258A>G:p.Asn753Ser	coding	Benign/Likely_benign
7	107767879	C	G	C107767879G	SLC26A3	NM_000111.2(SLC26A3):c.2092G>C:p.Glu698Gln	coding	Benign
7	107773921	G	T	G107773921T	SLC26A3	NM_000111.3(SLC26A3):c.2006C>A:p.Ser669Ter	coding	Pathogenic
7	107773974	A	G	A107773974G	SLC26A3	NM_000111.2(SLC26A3):c.1953T>C:p.Leu651=	coding	Benign
7	107774125	A	G	A107774125G	SLC26A3	NM_000111.3(SLC26A3):c.1802T>C:p.Ile601Thr	coding	Benign
7	107774854	G	A	G107774854A	SLC26A3	NM_000111.3(SLC26A3):c.1696C>T:p.Arg566Ter	coding	Pathogenic
7	107776468	C	T	C107776468T	SLC26A3	NM_000111.3(SLC26A3):c.1661G>A:p.Arg554Gln	coding	Benign
7	107776692	G	A	G107776692A	SLC26A3	NM_000111.2(SLC26A3):c.1529C>T:p.Thr510Met	coding	Benign/Likely_benign
7	107779689	C	T	C107779689T	SLC26A3	NM_000111.2(SLC26A3):c.1386G>A:p.Trp462Ter	coding	Pathogenic
7	107779761	G	A	G107779761A	SLC26A3	NM_000111.3(SLC26A3):c.1314C>T:p.Ser438=	coding	Benign/Likely_benign
7	107782809	C	T	C107782809T	SLC26A3	NM_000111.2(SLC26A3):c.1299G>A:p.Ala433=	coding	Benign
7	107783028	A	G	A107783028G	SLC26A3	NM_000111.3(SLC26A3):c.1185T>C:p.Thr395=	coding	Benign
7	107783324	C	A	C107783324A	SLC26A3	NM_000111.3(SLC26A3):c.1000G>T:p.Glu334Ter	coding	Pathogenic
7	107783328	G	A	G107783328A	SLC26A3	NM_000111.2(SLC26A3):c.996C>T:p.Asp332=	coding	Benign
7	107786877	A	C	A107786877C	SLC26A3	NM_000111.2(SLC26A3):c.921T>G:p.Cys307Trp	coding	Benign
7	107786915	A	G	A107786915G	SLC26A3	NM_000111.2(SLC26A3):c.889-6T>C	noncoding	Benign/Likely_benign
7	107791059	C	A	C107791059A	SLC26A3	NM_000111.2(SLC26A3):c.559G>T:p.Gly187Ter	coding	Pathogenic
7	107791834	G	A	G107791834A	SLC26A3	NM_000111.3(SLC26A3):c.378C>T:p.Ser126=	coding	Benign
7	107791841	T	A	T107791841A	SLC26A3	NM_000111.2(SLC26A3):c.371A>T:p.His124Leu	coding	Pathogenic
7	107791855	G	A	G107791855A	SLC26A3	NM_000111.3(SLC26A3):c.357C>T:p.Phe119=	coding	Benign
7	107791855	G	T	G107791855T	SLC26A3	NM_000111.2(SLC26A3):c.357C>A:p.Phe119Leu	coding	Benign/Likely_benign
7	107793772	T	C	T107793772C	SLC26A3	NM_000111.2(SLC26A3):c.241A>G:p.Ile81Val	coding	Benign/Likely_benign
7	107793810	C	T	C107793810T	SLC26A3	NM_000111.2(SLC26A3):c.203G>A:p.Arg68Gln	coding	Benign
7	107890834	A	T	A107890834T	DLD	NM_000108.4(DLD):c.-110-307A>T	noncoding	Benign
7	107891262	G	A	G107891262A	DLD	NM_000108.5(DLD):c.12G>A:p.Trp4Ter	coding	Pathogenic
7	107891284	G	A	G107891284A	DLD	NM_000108.5(DLD):c.34G>A:p.Ala12Thr	coding	Benign/Likely_benign
7	107901759	T	C	T107901759C	DLD	NM_000108.5(DLD):c.140T>C:p.Ile47Thr	coding	Pathogenic
7	107902340	A	G	A107902340G	DLD	NM_000108.5(DLD):c.214A>G:p.Lys72Glu	coding	Pathogenic
7	107902375	T	C	T107902375C	DLD	NM_000108.5(DLD):c.249T>C:p.Val83=	coding	Benign
7	107902628	C	T	C107902628T	DLD	NM_000108.5(DLD):c.267+235C>T	noncoding	Benign
7	107903763	C	G	C107903763G	DLD	NM_000108.5(DLD):c.337+216C>G	noncoding	Benign
7	107904940	T	A	T107904940A	DLD	NM_000108.5(DLD):c.338-18T>A	noncoding	Benign
7	107905354	T	C	T107905354C	DLD	NM_000108.5(DLD):c.439-7T>C	noncoding	Benign/Likely_benign
7	107905429	C	T	C107905429T	DLD	NM_000108.5(DLD):c.507C>T:p.Gly169=	coding	Benign/Likely_benign
7	107906359	T	C	T107906359C	DLD	NM_000108.5(DLD):c.675T>C:p.Gly225=	coding	Benign
7	107906375	G	A	G107906375A	DLD	NM_000108.5(DLD):c.684+7G>A	noncoding	Benign
7	107906492	A	G	A107906492G	DLD	NM_000108.5(DLD):c.684+124A>G	noncoding	Benign
7	107906557	G	C	G107906557C	DLD	NM_000108.5(DLD):c.684+189G>C	noncoding	Benign
7	107915492	T	A	T107915492A	DLD	NM_000108.5(DLD):c.685-14T>A	noncoding	Benign
7	107915506	G	T	G107915506T	DLD	NM_000108.5(DLD):c.685G>T:p.Gly229Cys	coding	Pathogenic
7	107915598	A	G	A107915598G	DLD	NM_000108.5(DLD):c.777A>G:p.Lys259=	coding	Benign
7	107916864	C	T	C107916864T	DLD	NM_000108.5(DLD):c.946C>T:p.Arg316Ter	coding	Pathogenic
7	107917307	A	G	A107917307G	DLD	NM_000108.5(DLD):c.1081A>G:p.Met361Val	coding	Pathogenic
7	107917349	G	A	G107917349A	DLD	NM_000108.5(DLD):c.1123G>A:p.Glu375Lys	coding	Pathogenic/Likely_pathogenic
7	107917404	T	C	T107917404C	DLD	NM_000108.5(DLD):c.1178T>C:p.Ile393Thr	coding	Pathogenic
7	107917475	A	G	A107917475G	DLD	NM_000108.5(DLD):c.1236+13A>G	noncoding	Benign
7	107918038	C	T	C107918038T	DLD	NM_000108.5(DLD):c.1351C>T:p.Leu451=	coding	Benign
7	107919030	T	C	T107919030C	DLD	NM_000108.5(DLD):c.1395T>C:p.Asn465=	coding	Benign/Likely_benign
7	107919057	A	C	A107919057C	DLD	NM_000108.5(DLD):c.1422A>C:p.Gly474=	coding	Benign/Likely_benign
7	107919079	A	G	A107919079G	DLD	NM_000108.5(DLD):c.1444A>G:p.Arg482Gly	coding	Pathogenic
7	107919098	C	T	C107919098T	DLD	NM_000108.5(DLD):c.1463C>T:p.Pro488Leu	coding	Pathogenic
7	107919212	A	G	A107919212G	DLD	NM_000108.5(DLD):c.1483A>G:p.Arg495Gly	coding	Pathogenic
7	107919277	A	T	A107919277T	DLD	NM_000108.5(DLD):c.*18A>T	noncoding	Benign
7	107919287	G	T	G107919287T	DLD	NM_000108.5(DLD):c.*28G>T	noncoding	Benign
7	107919466	G	A	G107919466A	DLD	NM_000108.5(DLD):c.*207G>A	noncoding	Benign
7	107919729	G	T	G107919729T	DLD	NM_000108.5(DLD):c.*470G>T	noncoding	Benign
7	107919733	T	C	T107919733C	DLD	NM_000108.5(DLD):c.*474T>C	noncoding	Benign/Likely_benign
7	107919746	C	T	C107919746T	DLD	NM_000108.5(DLD):c.*487C>T	noncoding	Benign
7	107919907	G	A	G107919907A	DLD	NM_000108.5(DLD):c.*648G>A	noncoding	Benign
7	107920114	C	T	C107920114T	DLD	NM_000108.5(DLD):c.*855C>T	noncoding	Benign
7	107920146	T	C	T107920146C	DLD	NM_000108.5(DLD):c.*887T>C	noncoding	Benign/Likely_benign
7	107920206	G	T	G107920206T	DLD	NM_000108.5(DLD):c.*947G>T	noncoding	Benign
7	107920237	T	C	T107920237C	DLD	NM_000108.5(DLD):c.*978T>C	noncoding	Benign
7	107920333	C	G	C107920333G	DLD	NM_000108.5(DLD):c.*1074C>G	noncoding	Benign
7	107920559	A	G	A107920559G	DLD	NM_000108.5(DLD):c.*1300A>G	noncoding	Benign
7	107920710	T	C	T107920710C	DLD	NM_000108.5(DLD):c.*1451T>C	noncoding	Benign
7	107920947	G	A	G107920947A	DLD	NM_000108.5(DLD):c.*1688G>A	noncoding	Benign
7	107924065	G	A	G107924065A	LAMB1	NM_002291.3(LAMB1):c.5247C>T:p.Asp1749=	coding	Benign
7	107924094	G	A	G107924094A	DLD;LAMB1	NM_002291.3(LAMB1):c.5225-7C>T	noncoding	Benign
7	107924097	G	T	G107924097T	LAMB1	NM_002291.3(LAMB1):c.5225-10C>A	noncoding	Benign
7	107924562	A	C	A107924562C	LAMB1	NM_002291.3(LAMB1):c.5065-173T>G	noncoding	Benign
7	107924693	C	T	C107924693T	LAMB1	NM_002291.3(LAMB1):c.5065-304G>A	noncoding	Benign
7	107925985	A	G	A107925985G	LAMB1	NM_002291.3(LAMB1):c.5064+198T>C	noncoding	Benign
7	107926043	G	T	G107926043T	LAMB1	NM_002291.3(LAMB1):c.5064+140C>A	noncoding	Benign
7	107926318	G	A	G107926318A	LAMB1	NM_002291.3(LAMB1):c.4929C>T:p.Asn1643=	coding	Benign
7	107926357	A	G	A107926357G	LAMB1	NM_002291.3(LAMB1):c.4890T>C:p.Ile1630=	coding	Benign
7	107926367	C	T	C107926367T	LAMB1	NM_002291.3(LAMB1):c.4888-8G>A	noncoding	Benign
7	107928969	T	A	T107928969A	LAMB1	NM_002291.3(LAMB1):c.4887+95A>T	noncoding	Benign
7	107929072	A	G	A107929072G	LAMB1	NM_002291.3(LAMB1):c.4879T>C:p.Leu1627=	coding	Benign
7	107929517	A	G	A107929517G	LAMB1	NM_002291.3(LAMB1):c.4640T>C:p.Ile1547Thr	coding	Benign
7	107929748	T	A	T107929748A	LAMB1	NM_002291.3(LAMB1):c.4538-129A>T	noncoding	Benign
7	107932285	C	A	C107932285A	LAMB1	NM_002291.3(LAMB1):c.4281G>T:p.Gly1427=	coding	Benign
7	107932330	G	A	G107932330A	LAMB1	NM_002291.3(LAMB1):c.4236C>T:p.Gly1412=	coding	Benign
7	107932345	G	A	G107932345A	LAMB1	NM_002291.3(LAMB1):c.4221C>T:p.Ser1407=	coding	Benign/Likely_benign
7	107935112	G	A	G107935112A	LAMB1	NM_002291.3(LAMB1):c.4188+303C>T	noncoding	Benign
7	107935421	G	A	G107935421A	LAMB1	NM_002291.3(LAMB1):c.4182C>T:p.Ala1394=	coding	Benign
7	107935427	G	A	G107935427A	LAMB1	NM_002291.3(LAMB1):c.4176C>T:p.Ala1392=	coding	Benign
7	107936945	T	G	T107936945G	LAMB1	NM_002291.3(LAMB1):c.3946+148A>C	noncoding	Benign
7	107937560	G	A	G107937560A	LAMB1	NM_002291.3(LAMB1):c.3762-283C>T	noncoding	Benign
7	107940100	C	A	C107940100A	LAMB1	NM_002291.3(LAMB1):c.3650G>T:p.Arg1217Leu	coding	Benign/Likely_benign
7	107940177	G	A	G107940177A	LAMB1	NM_002291.3(LAMB1):c.3573C>T:p.Ala1191=	coding	Benign
7	107940303	G	A	G107940303A	LAMB1	NM_002291.3(LAMB1):c.3447C>T:p.Gly1149=	coding	Benign
7	107940394	A	G	A107940394G	LAMB1	NM_002291.3(LAMB1):c.3392-36T>C	noncoding	Benign
7	107940590	A	G	A107940590G	LAMB1	NM_002291.3(LAMB1):c.3392-232T>C	noncoding	Benign
7	107940670	C	G	C107940670G	LAMB1	NM_002291.3(LAMB1):c.3392-312G>C	noncoding	Benign
7	107951207	G	A	G107951207A	LAMB1	NM_002291.3(LAMB1):c.3391+19C>T	noncoding	Benign
7	107951240	T	C	T107951240C	LAMB1	NM_002291.3(LAMB1):c.3377A>G:p.Asp1126Gly	coding	Benign
7	107951275	G	A	G107951275A	LAMB1	NM_002291.3(LAMB1):c.3342C>T:p.Cys1114=	coding	Benign
7	107951317	C	G	C107951317G	LAMB1	NM_002291.3(LAMB1):c.3300G>C:p.Thr1100=	coding	Benign
7	107951469	A	G	A107951469G	LAMB1	NM_002291.3(LAMB1):c.3295-147T>C	noncoding	Benign
7	107952162	G	A	G107952162A	LAMB1	NM_002291.3(LAMB1):c.3141C>T:p.Cys1047=	coding	Benign
7	107952512	A	C	A107952512C	LAMB1	NM_002291.3(LAMB1):c.3080-289T>G	noncoding	Benign
7	107953544	T	C	T107953544C	LAMB1	NM_002291.3(LAMB1):c.3065A>G:p.Gln1022Arg	coding	Benign
7	107953597	C	T	C107953597T	LAMB1	NM_002291.3(LAMB1):c.3012G>A:p.Thr1004=	coding	Benign/Likely_benign
7	107953689	G	C	G107953689C	LAMB1	NM_002291.3(LAMB1):c.2920C>G:p.Gln974Glu	coding	Benign
7	107953740	C	T	C107953740T	LAMB1	NM_002291.3(LAMB1):c.2869G>A:p.Asp957Asn	coding	Benign
7	107954104	G	A	G107954104A	LAMB1	NM_002291.3(LAMB1):c.2855-350C>T	noncoding	Benign
7	107955447	A	C	A107955447C	LAMB1	NM_002291.3(LAMB1):c.2854+20T>G	noncoding	Benign
7	107955598	A	G	A107955598G	LAMB1	NM_002291.3(LAMB1):c.2723T>C:p.Ile908Thr	coding	Benign
7	107959361	C	T	C107959361T	LAMB1	NM_002291.3(LAMB1):c.2578G>A:p.Gly860Ser	coding	Benign
7	107959397	C	G	C107959397G	LAMB1	NM_002291.3(LAMB1):c.2542G>C:p.Ala848Pro	coding	Benign/Likely_benign
7	107959766	G	C	G107959766C	LAMB1	NM_002291.3(LAMB1):c.2383C>G:p.Arg795Gly	coding	Benign
7	107960113	C	T	C107960113T	LAMB1	NM_002291.3(LAMB1):c.2315-279G>A	noncoding	Benign
7	107960646	C	G	C107960646G	LAMB1	NM_002291.3(LAMB1):c.2113G>C:p.Val705Leu	coding	Benign/Likely_benign
7	107961078	T	C	T107961078C	LAMB1	NM_002291.3(LAMB1):c.2109+128A>G	noncoding	Benign
7	107961205	C	A	C107961205A	LAMB1	NM_002291.3(LAMB1):c.2109+1G>T	noncoding	Pathogenic
7	107961306	A	G	A107961306G	LAMB1	NM_002291.3(LAMB1):c.2009T>C:p.Val670Ala	coding	Benign
7	107961537	C	T	C107961537T	LAMB1	NM_002291.3(LAMB1):c.1985+12G>A	noncoding	Benign
7	107962986	A	C	A107962986C	LAMB1	NM_002291.3(LAMB1):c.1776T>G:p.Pro592=	coding	Benign
7	107964373	T	G	T107964373G	LAMB1	NM_002291.3(LAMB1):c.1698+179A>C	noncoding	Benign
7	107964657	G	A	G107964657A	LAMB1	NM_002291.3(LAMB1):c.1593C>T:p.Cys531=	coding	Benign
7	107964660	T	G	T107964660G	LAMB1	NM_002291.3(LAMB1):c.1590A>C:p.Ser530=	coding	Benign/Likely_benign
7	107964678	C	T	C107964678T	LAMB1	NM_002291.3(LAMB1):c.1572G>A:p.Ala524=	coding	Benign
7	107964867	G	A	G107964867A	LAMB1	NM_002291.3(LAMB1):c.1563-180C>T	noncoding	Benign
7	107964967	C	T	C107964967T	LAMB1	NM_002291.3(LAMB1):c.1563-280G>A	noncoding	Benign
7	107972762	T	C	T107972762C	LAMB1	NM_002291.3(LAMB1):c.1562+230A>G	noncoding	Benign
7	107972934	G	A	G107972934A	LAMB1	NM_002291.3(LAMB1):c.1562+58C>T	noncoding	Benign
7	107974829	C	T	C107974829T	LAMB1	NM_002291.3(LAMB1):c.1482+157G>A	noncoding	Benign
7	107975026	C	A	C107975026A	LAMB1	NM_002291.3(LAMB1):c.1442G>T:p.Cys481Phe	coding	Pathogenic
7	107975061	C	T	C107975061T	LAMB1	NM_002291.3(LAMB1):c.1407G>A:p.Gly469=	coding	Benign
7	107975566	C	G	C107975566G	LAMB1	NM_002291.3(LAMB1):c.1189+123G>C	noncoding	Benign
7	107975604	C	A	C107975604A	LAMB1	NM_002291.3(LAMB1):c.1189+85G>T	noncoding	Benign
7	107975623	T	C	T107975623C	LAMB1	NM_002291.3(LAMB1):c.1189+66A>G	noncoding	Benign
7	107975633	G	A	G107975633A	LAMB1	NM_002291.3(LAMB1):c.1189+56C>T	noncoding	Benign
7	107975741	C	T	C107975741T	LAMB1	NM_002291.3(LAMB1):c.1137G>A:p.Pro379=	coding	Benign
7	107975743	G	A	G107975743A	LAMB1	NM_002291.3(LAMB1):c.1135C>T:p.Pro379Ser	coding	Benign
7	107977975	A	G	A107977975G	LAMB1	NM_002291.3(LAMB1):c.1000+72T>C	noncoding	Benign
7	107978162	G	A	G107978162A	LAMB1	NM_002291.3(LAMB1):c.885C>T:p.His295=	coding	Benign/Likely_benign
7	107980633	T	C	T107980633C	LAMB1	NM_002291.3(LAMB1):c.855A>G:p.Gly285=	coding	Benign
7	107986319	A	G	A107986319G	LAMB1	NM_002291.3(LAMB1):c.468T>C:p.Phe156=	coding	Benign/Likely_benign
7	107986325	G	A	G107986325A	LAMB1	NM_002291.3(LAMB1):c.462C>T:p.Ser154=	coding	Benign
7	107986549	A	G	A107986549G	LAMB1	NM_002291.3(LAMB1):c.424-186T>C	noncoding	Benign
7	107994660	G	C	G107994660C	LAMB1	NM_002291.3(LAMB1):c.423+227C>G	noncoding	Benign
7	108002907	G	A	G108002907A	LAMB1	NM_002291.3(LAMB1):c.-22C>T	noncoding	Benign
7	108003076	T	G	T108003076G	LAMB1	NM_002291.3(LAMB1):c.-87+35A>C	noncoding	Benign
7	108043829	C	A	C108043829A	LAMB4	NM_007356.3(LAMB4):c.4394G>T:p.Gly1465Val	coding	Benign
7	108049536	G	A	G108049536A	LAMB4	NM_007356.3(LAMB4):c.3917-5C>T	noncoding	Benign
7	108052236	A	G	A108052236G	LAMB4	NM_007356.3(LAMB4):c.3777T>C:p.Asn1259=	coding	Benign
7	108055656	A	C	A108055656C	LAMB4	NM_007356.3(LAMB4):c.3731T>G:p.Val1244Gly	coding	Benign
7	108055900	G	T	G108055900T	LAMB4	NM_007356.3(LAMB4):c.3487C>A:p.Arg1163=	coding	Benign
7	108055907	G	A	G108055907A	LAMB4	NM_007356.3(LAMB4):c.3480C>T:p.Arg1160=	coding	Benign
7	108062888	G	A	G108062888A	LAMB4	NM_007356.3(LAMB4):c.3168C>T:p.Val1056=	coding	Benign
7	108063754	G	C	G108063754C	LAMB4	NM_007356.3(LAMB4):c.3061+7C>G	noncoding	Benign
7	108065763	C	T	C108065763T	LAMB4	NM_007356.3(LAMB4):c.2835G>A:p.Thr945=	coding	Benign
7	108069868	T	C	T108069868C	LAMB4	NM_007356.3(LAMB4):c.2142A>G:p.Gln714=	coding	Benign
7	108076950	C	T	C108076950T	LAMB4	NM_007356.3(LAMB4):c.2118G>A:p.Val706=	coding	Benign
7	108079625	G	A	G108079625A	LAMB4	NM_007356.3(LAMB4):c.1863C>T:p.Thr621=	coding	Benign
7	108079727	A	G	A108079727G	LAMB4	NM_007356.3(LAMB4):c.1761T>C:p.Pro587=	coding	Benign
7	108079775	C	T	C108079775T	LAMB4	NM_007356.3(LAMB4):c.1713G>A:p.Thr571=	coding	Benign
7	108092381	C	T	C108092381T	LAMB4	NM_007356.3(LAMB4):c.1506G>A:p.Gly502=	coding	Benign
7	108105868	T	C	T108105868C	LAMB4	NM_007356.3(LAMB4):c.819A>G:p.Glu273=	coding	Benign
7	108123130	C	T	C108123130T	LAMB4	NM_007356.3(LAMB4):c.34+1G>A	noncoding	Benign
7	108149972	C	T	C108149972T	NRCAM	NM_001037132.4(NRCAM):c.3853G>A:p.Ala1285Thr	coding	Benign
7	108150081	T	C	T108150081C	NRCAM	NM_001037132.4(NRCAM):c.3744A>G:p.Lys1248=	coding	Benign
7	108207588	T	G	T108207588G	NRCAM	NM_001037132.4(NRCAM):c.1147A>C:p.Arg383=	coding	Benign
7	108472458	A	G	A108472458G	PNPLA8	NM_001256007.3(PNPLA8):c.2292T>C:p.Asp764=	coding	Benign
7	108479248	C	T	C108479248T	PNPLA8	NM_001256007.3(PNPLA8):c.2010G>A:p.Thr670=	coding	Benign
7	108479287	G	A	G108479287A	PNPLA8	NM_001256007.3(PNPLA8):c.1971C>T:p.Ser657=	coding	Benign
7	108514610	G	A	G108514610A	PNPLA8	NM_001256007.3(PNPLA8):c.882C>T:p.Pro294=	coding	Benign
7	108514637	T	C	T108514637C	PNPLA8	NM_001256007.3(PNPLA8):c.855A>G:p.Gln285=	coding	Benign
7	108515168	C	T	C108515168T	PNPLA8	NM_001256007.3(PNPLA8):c.324G>A:p.Leu108=	coding	Benign
7	108515405	C	T	C108515405T	PNPLA8	NM_001256007.3(PNPLA8):c.87G>A:p.Leu29=	coding	Benign
7	108573088	G	A	G108573088A	DNAJB9	NM_012328.3(DNAJB9):c.407G>A:p.Arg136His	coding	Benign
7	111122864	G	A	G111122864A	LRRN3	NM_001099658.2(LRRN3):c.92G>A:p.Arg31Gln	coding	Benign
7	111123447	A	G	A111123447G	LRRN3	NM_001099658.2(LRRN3):c.675A>G:p.Thr225=	coding	Benign
7	111123672	C	T	C111123672T	LRRN3	NM_001099658.2(LRRN3):c.900C>T:p.Ile300=	coding	Benign
7	111123903	T	C	T111123903C	LRRN3	NM_001099658.2(LRRN3):c.1131T>C:p.Arg377=	coding	Benign
7	111521382	C	T	C111521382T	IMMP2L	NM_032549.4(IMMP2L):c.66G>A:p.Ala22=	coding	Benign
7	111521412	G	A	G111521412A	IMMP2L	NM_032549.4(IMMP2L):c.36C>T:p.Ile12=	coding	Benign
7	111728711	G	T	G111728711T	DOCK4	NM_001363540.2(DOCK4):c.5491C>A:p.Gln1831Lys	coding	Benign
7	111742074	C	T	C111742074T	DOCK4	NM_001363540.2(DOCK4):c.4736G>A:p.Arg1579Lys	coding	Benign
7	111747315	A	G	A111747315G	DOCK4	NM_001363540.2(DOCK4):c.4545T>C:p.Asn1515=	coding	Benign
7	111769565	C	A	C111769565A	DOCK4	NM_001363540.2(DOCK4):c.3792G>T:p.Leu1264=	coding	Benign
7	111900438	T	C	T111900438C	DOCK4	NM_001363540.2(DOCK4):c.1416A>G:p.Lys472=	coding	Benign
7	111915888	T	C	T111915888C	DOCK4	NM_001363540.2(DOCK4):c.1083A>G:p.Leu361=	coding	Benign
7	111944878	A	C	A111944878C	DOCK4	NM_001363540.2(DOCK4):c.784-7T>G	noncoding	Benign
7	111945768	G	A	G111945768A	DOCK4	NM_001363540.2(DOCK4):c.732C>T:p.Asn244=	coding	Benign
7	111977291	A	G	A111977291G	DOCK4	NM_001363540.2(DOCK4):c.550-8T>C	noncoding	Benign
7	111989056	G	A	G111989056A	DOCK4	NM_001363540.2(DOCK4):c.423C>T:p.Asp141=	coding	Benign
7	111989162	C	T	C111989162T	DOCK4	NM_001363540.2(DOCK4):c.317G>A:p.Arg106His	coding	Benign
7	112004038	G	C	G112004038C	DOCK4	NM_001363540.2(DOCK4):c.121+10C>G	noncoding	Benign
7	112004108	C	T	C112004108T	DOCK4	NM_001363540.2(DOCK4):c.61G>A:p.Val21Ile	coding	Benign
7	112450727	T	C	T112450727C	IFRD1	NM_001550.3(IFRD1):c.39T>C:p.Gly13=	coding	Benign
7	112456015	T	A	T112456015A	IFRD1	NM_001550.3(IFRD1):c.213T>A:p.Leu71=	coding	Benign
7	112461996	A	G	A112461996G	IFRD1	NM_001550.3(IFRD1):c.619-5A>G	noncoding	Benign
7	112462016	C	G	C112462016G	IFRD1	NM_001550.3(IFRD1):c.634C>G:p.Leu212Val	coding	Benign
7	112472825	A	G	A112472825G	IFRD1	NM_001550.3(IFRD1):c.1230A>G:p.Ala410=	coding	Benign
7	112784759	C	T	C112784759T	TMEM168	NM_022484.6(TMEM168):c.67G>A:p.Val23Ile	coding	Benign
7	113084092	G	A	G113084092A	GPR85	NM_001146265.1(GPR85):c.630C>T:p.His210=	coding	Benign
7	113877833	T	C	T113877833C	PPP1R3A	NM_002711.4(PPP1R3A):c.3259A>G:p.Ile1087Val	coding	Benign
7	113878048	T	C	T113878048C	PPP1R3A	NM_002711.4(PPP1R3A):c.3044A>G:p.Asn1015Ser	coding	Benign
7	113878443	C	A	C113878443A	PPP1R3A	NM_002711.4(PPP1R3A):c.2649G>T:p.Arg883Ser	coding	Benign
7	113879177	C	A	C113879177A	PPP1R3A	NM_002711.4(PPP1R3A):c.1915G>T:p.Gly639Cys	coding	Benign
7	113879212	C	T	C113879212T	PPP1R3A	NM_002711.4(PPP1R3A):c.1880G>A:p.Arg627Lys	coding	Benign
7	113879257	C	T	C113879257T	PPP1R3A	NM_002711.4(PPP1R3A):c.1835G>A:p.Gly612Glu	coding	Benign
7	113879378	T	C	T113879378C	PPP1R3A	NM_002711.4(PPP1R3A):c.1714A>G:p.Ile572Val	coding	Benign
7	113879909	A	C	A113879909C	PPP1R3A	NM_002711.4(PPP1R3A):c.1183T>G:p.Ser395Ala	coding	Benign
7	113918864	C	T	C113918864T	PPP1R3A	NM_002711.4(PPP1R3A):c.133G>A:p.Gly45Ser	coding	Benign
7	114415272	G	A	G114415272A	FOXP2	NM_014491.4(FOXP2):c.-99G>A	noncoding	Benign
7	114415357	G	T	G114415357T	FOXP2	NM_014491.4(FOXP2):c.-14G>T	noncoding	Benign
7	114534645	T	G	T114534645G	FOXP2	NM_014491.4(FOXP2):c.197T>G:p.Leu66Ter	coding	Pathogenic
7	114629891	A	G	A114629891G	FOXP2	NM_014491.4(FOXP2):c.483A>G:p.Gln161=	coding	Benign/Likely_benign
7	114629930	A	G	A114629930G	FOXP2	NM_014491.4(FOXP2):c.522A>G:p.Gln174=	coding	Benign
7	114629939	A	G	A114629939G	FOXP2	NM_014491.4(FOXP2):c.531A>G:p.Gln177=	coding	Benign
7	114629960	A	G	A114629960G	FOXP2	NM_014491.4(FOXP2):c.552A>G:p.Gln184=	coding	Benign/Likely_benign
7	114629961	C	T	C114629961T	FOXP2	NM_014491.4(FOXP2):c.553C>T:p.Gln185Ter	coding	Pathogenic
7	114629964	C	T	C114629964T	FOXP2	NM_014491.4(FOXP2):c.556C>T:p.Gln186Ter	coding	Pathogenic
7	114629978	A	G	A114629978G	FOXP2	NM_014491.4(FOXP2):c.570A>G:p.Gln190=	coding	Benign
7	114630022	T	G	T114630022G	FOXP2	NM_014491.4(FOXP2):c.597+17T>G	noncoding	Benign
7	114631518	C	T	C114631518T	FOXP2	NM_014491.4(FOXP2):c.598-10C>T	noncoding	Benign/Likely_benign
7	114631534	C	T	C114631534T	FOXP2	NM_014491.4(FOXP2):c.604C>T:p.Gln202Ter	coding	Pathogenic
7	114631671	C	T	C114631671T	FOXP2	NM_014491.4(FOXP2):c.741C>T:p.Gly247=	coding	Benign
7	114642616	C	T	C114642616T	FOXP2	NM_014491.4(FOXP2):c.982C>T:p.Arg328Ter	coding	Pathogenic
7	114654017	C	T	C114654017T	FOXP2	NM_014491.4(FOXP2):c.1266+8C>T	coding	Benign/Likely_benign
7	114658065	G	A	G114658065A	FOXP2	NM_014491.4(FOXP2):c.1267-1G>A	noncoding	Pathogenic
7	114658170	T	C	T114658170C	FOXP2	NM_014491.4(FOXP2):c.1371T>C:p.Ile457=	coding	Benign/Likely_benign
7	114658225	C	T	C114658225T	FOXP2	NM_014491.4(FOXP2):c.1426C>T:p.Arg476Ter	coding	Pathogenic
7	114658230	G	A	G114658230A	FOXP2	NM_014491.4(FOXP2):c.1431G>A:p.Arg477=	coding	Benign/Likely_benign
7	114658240	G	A	G114658240A	FOXP2	NM_014491.4(FOXP2):c.1441G>A:p.Asp481Asn	coding	Benign
7	114658276	T	C	T114658276C	FOXP2	NM_014491.4(FOXP2):c.1468+9T>C	noncoding	Benign
7	114659381	T	C	T114659381C	FOXP2	NM_014491.4(FOXP2):c.1494T>C:p.Tyr498=	coding	Benign
7	114659617	T	C	T114659617C	FOXP2	NM_014491.4(FOXP2):c.1591T>C:p.Tyr531His	coding	Pathogenic
7	114662075	G	A	G114662075A	FOXP2	NM_014491.4(FOXP2):c.1658G>A:p.Arg553His	coding	Pathogenic
7	114662103	T	C	T114662103C	FOXP2	NM_014491.4(FOXP2):c.1686T>C:p.Phe562=	coding	Benign
7	114663436	A	T	A114663436T	FOXP2	NM_014491.4(FOXP2):c.1770-14A>T	noncoding	Benign
7	114663438	T	A	T114663438A	FOXP2	NM_014491.4(FOXP2):c.1770-12T>A	noncoding	Benign
7	114664276	G	A	G114664276A	FOXP2	NM_014491.4(FOXP2):c.1843G>A:p.Ala615Thr	coding	Benign/Likely_benign
7	114664415	G	A	G114664415A	FOXP2	NM_014491.4(FOXP2):c.1982G>A:p.Gly661Asp	coding	Benign
7	114690006	A	G	A114690006G	FOXP2	NM_014491.4(FOXP2):c.*80A>G	noncoding	Benign
7	114690132	T	C	T114690132C	FOXP2	NM_014491.4(FOXP2):c.*206T>C	noncoding	Benign
7	114690133	T	C	T114690133C	FOXP2	NM_014491.4(FOXP2):c.*207T>C	noncoding	Benign
7	114690162	A	G	A114690162G	FOXP2	NM_014491.4(FOXP2):c.*236A>G	noncoding	Benign
7	114690176	A	G	A114690176G	FOXP2	NM_014491.4(FOXP2):c.*250A>G	noncoding	Benign
7	114690202	A	G	A114690202G	FOXP2	NM_014491.4(FOXP2):c.*276A>G	noncoding	Benign
7	114690441	A	T	A114690441T	FOXP2	NM_014491.4(FOXP2):c.*515A>T	noncoding	Benign
7	114690924	A	G	A114690924G	FOXP2	NM_014491.4(FOXP2):c.*998A>G	noncoding	Benign
7	114691870	C	T	C114691870T	FOXP2	NM_014491.4(FOXP2):c.*1944C>T	noncoding	Benign
7	114691871	G	A	G114691871A	FOXP2	NM_014491.4(FOXP2):c.*1945G>A	noncoding	Benign
7	114691895	T	A	T114691895A	FOXP2	NM_014491.4(FOXP2):c.*1969T>A	noncoding	Benign
7	114691943	G	A	G114691943A	FOXP2	NM_014491.4(FOXP2):c.*2017G>A	noncoding	Benign
7	114691944	A	G	A114691944G	FOXP2	NM_014491.4(FOXP2):c.*2018A>G	noncoding	Benign
7	114692008	A	G	A114692008G	FOXP2	NM_014491.4(FOXP2):c.*2082A>G	noncoding	Benign
7	114692117	C	T	C114692117T	FOXP2	NM_014491.4(FOXP2):c.*2191C>T	noncoding	Benign
7	114692179	A	T	A114692179T	FOXP2	NM_014491.4(FOXP2):c.*2253A>T	noncoding	Benign
7	114692191	G	T	G114692191T	FOXP2	NM_014491.4(FOXP2):c.*2265G>T	noncoding	Benign
7	114692497	C	T	C114692497T	FOXP2	NM_014491.4(FOXP2):c.*2571C>T	noncoding	Benign
7	114692744	G	C	G114692744C	FOXP2	NM_014491.4(FOXP2):c.*2818G>C	noncoding	Benign
7	114692891	T	C	T114692891C	FOXP2	NM_014491.4(FOXP2):c.*2965T>C	noncoding	Benign
7	114693125	G	A	G114693125A	FOXP2	NM_014491.4(FOXP2):c.*3199G>A	noncoding	Benign
7	114693349	C	T	C114693349T	FOXP2	NM_014491.4(FOXP2):c.*3423C>T	noncoding	Benign
7	114693383	G	A	G114693383A	FOXP2	NM_014491.4(FOXP2):c.*3457G>A	noncoding	Benign
7	114693392	G	A	G114693392A	FOXP2	NM_014491.4(FOXP2):c.*3466G>A	noncoding	Benign
7	114693443	T	C	T114693443C	FOXP2	NM_014491.4(FOXP2):c.*3517T>C	noncoding	Benign
7	114693489	C	T	C114693489T	FOXP2	NM_014491.4(FOXP2):c.*3563C>T	noncoding	Benign
7	114693550	T	G	T114693550G	FOXP2	NM_014491.4(FOXP2):c.*3624T>G	noncoding	Benign
7	114693609	C	T	C114693609T	FOXP2	NM_014491.4(FOXP2):c.*3683C>T	noncoding	Benign
7	114693748	C	T	C114693748T	FOXP2	NM_014491.4(FOXP2):c.*3822C>T	noncoding	Benign
7	115956746	T	G	T115956746G	TFEC	NM_012252.4(TFEC):c.315A>C:p.Ser105=	coding	Benign
7	115956763	C	T	C115956763T	TFEC	NM_012252.4(TFEC):c.298G>A:p.Gly100Ser	coding	Benign
7	115984385	C	T	C115984385T	TFEC	NM_012252.4(TFEC):c.57G>A:p.Val19=	coding	Benign
7	116506073	C	T	C116506073T	CAV2	NM_001233.5(CAV2):c.441C>T:p.Ser147=	coding	Benign
7	116525106	G	T	G116525106T	CAV1	NM_001753.5(CAV1):c.30+14G>T	coding	Benign
7	116525306	A	C	A116525306C	CAV1	NM_001753.5(CAV1):c.30+214A>C	coding	Benign
7	116525409	T	C	T116525409C	CAV1	NM_001753.5(CAV1):c.30+317T>C	coding	Benign
7	116526606	G	T	G116526606T	CAV1	NM_001753.5(CAV1):c.112G>T:p.Glu38Ter	coding	Pathogenic
7	116526623	C	T	C116526623T	CAV1	NM_001753.5(CAV1):c.129C>T:p.Asp43=	coding	Benign
7	116526650	C	T	C116526650T	CAV1	NM_001753.5(CAV1):c.156C>T:p.Val52=	coding	Benign
7	116558774	A	G	A116558774G	CAV1	NM_001753.5(CAV1):c.196-172A>G	noncoding	Benign
7	116558996	C	T	C116558996T	CAV1	NM_001753.5(CAV1):c.246C>T:p.Asp82=	coding	Benign
7	116559098	C	T	C116559098T	CAV1	NM_001753.5(CAV1):c.348C>T:p.Gly116=	coding	Benign
7	116559174	C	T	C116559174T	CAV1	NM_001753.5(CAV1):c.424C>T:p.Gln142Ter	coding	Pathogenic
7	116672410	C	A	C116672410A	MET	NM_001127500.3(MET):c.-182C>A	noncoding	Benign
7	116699058	C	T	C116699058T	MET	NM_000245.4(MET):c.-14-13C>T	noncoding	Benign/Likely_benign
7	116699067	G	A	G116699067A	MET	NM_000245.4(MET):c.-14-4G>A	noncoding	Benign/Likely_benign
7	116699120	C	T	C116699120T	MET	NM_001127500.3(MET):c.36C>T:p.Leu12=	coding	Benign/Likely_benign
7	116699227	C	T	C116699227T	MET	NM_001127500.3(MET):c.143C>T:p.Ala48Val	coding	Benign
7	116699228	G	A	G116699228A	MET	NM_000245.4(MET):c.144G>A:p.Ala48=	coding	Benign
7	116699474	C	T	C116699474T	MET	NM_000245.4(MET):c.390C>T:p.Leu130=	coding	Benign
7	116699552	G	A	G116699552A	MET	NM_001127500.3(MET):c.468G>A:p.Ser156=	coding	Benign/Likely_benign
7	116699588	G	T	G116699588T	MET	NM_000245.4(MET):c.504G>T:p.Glu168Asp	coding	Benign/Likely_benign
7	116699618	C	T	C116699618T	MET	NM_000245.4(MET):c.534C>T:p.Ser178=	coding	Benign
7	116699738	G	A	G116699738A	MET	NM_000245.4(MET):c.654G>A:p.Arg218=	coding	Benign/Likely_benign
7	116699774	G	A	G116699774A	MET	NM_001127500.3(MET):c.690G>A:p.Thr230=	coding	Benign/Likely_benign
7	116699882	G	A	G116699882A	MET	NM_000245.4(MET):c.798G>A:p.Arg266=	coding	Benign/Likely_benign
7	116700032	A	G	A116700032G	MET	NM_000245.4(MET):c.948A>G:p.Ile316Met	coding	Benign/Likely_benign
7	116700044	G	A	G116700044A	MET	NM_001127500.3(MET):c.960G>A:p.Ala320=	coding	Benign/Likely_benign
7	116700169	T	C	T116700169C	MET	NM_000245.4(MET):c.1085T>C:p.Met362Thr	coding	Benign
7	116700208	A	G	A116700208G	MET	NM_000245.4(MET):c.1124A>G:p.Asn375Ser	coding	Benign
7	116700215	C	T	C116700215T	MET	NM_000245.4(MET):c.1131C>T:p.Ile377=	coding	Benign
7	116700275	C	T	C116700275T	MET	NM_001127500.3(MET):c.1191C>T:p.Cys397=	coding	Benign/Likely_benign
7	116731730	C	T	C116731730T	MET	NM_001127500.3(MET):c.1263C>T:p.Thr421=	coding	Benign/Likely_benign
7	116741032	A	T	A116741032T	MET	NM_001127500.3(MET):c.1701+7A>T	noncoding	Benign
7	116741050	A	G	A116741050G	MET	NM_000245.4(MET):c.1701+25A>G	noncoding	Benign
7	116741084	G	T	G116741084T	MET	NM_001127500.3(MET):c.1701+59G>T	noncoding	Benign
7	116755368	G	A	G116755368A	MET	NM_000245.4(MET):c.1715G>A:p.Ser572Asn	coding	Benign/Likely_benign
7	116757518	A	G	A116757518G	MET	NM_000245.4(MET):c.1944A>G:p.Gln648=	coding	Benign
7	116757553	T	C	T116757553C	MET	NM_001127500.3(MET):c.1965+14T>C	noncoding	Benign
7	116758709	C	T	C116758709T	MET	NM_000245.4(MET):c.2264+89C>T	noncoding	Benign
7	116763206	T	G	T116763206G	MET	NM_001127500.3(MET):c.2575T>G:p.Phe859Val	coding	Pathogenic
7	116769636	T	C	T116769636C	MET	NM_000245.4(MET):c.2584-9T>C	noncoding	Benign/Likely_benign
7	116769719	C	T	C116769719T	MET	NM_000245.4(MET):c.2658C>T:p.His886=	coding	Benign/Likely_benign
7	116769723	C	T	C116769723T	MET	NM_000245.4(MET):c.2662C>T:p.His888Tyr	coding	Benign/Likely_benign
7	116769776	C	T	C116769776T	MET	NM_001127500.3(MET):c.2769C>T:p.Ser923=	coding	Benign/Likely_benign
7	116771989	G	A	G116771989A	MET	NM_000245.4(MET):c.3028G>A:p.Asp1010Asn	coding	Pathogenic
7	116777403	G	A	G116777403A	MET	NM_001127500.3(MET):c.3328G>A:p.Val1110Ile	coding	Pathogenic
7	116777410	A	G	A116777410G	MET	NM_000245.4(MET):c.3281A>G:p.His1094Arg	coding	Pathogenic
7	116778827	T	C	T116778827C	MET	NM_000245.4(MET):c.3392T>C:p.Met1131Thr	coding	Pathogenic
7	116778862	C	T	C116778862T	MET	NM_001127500.3(MET):c.3481C>T:p.Leu1161=	coding	Benign/Likely_benign
7	116778953	C	T	C116778953T	MET	NM_001127500.3(MET):c.3572C>T:p.Thr1191Ile	coding	Pathogenic
7	116778957	T	C	T116778957C	MET	NM_000245.4(MET):c.3522T>C:p.His1174=	coding	Benign/Likely_benign
7	116778969	G	T	G116778969T	MET	NM_000245.4(MET):c.3522+12G>T	noncoding	Benign/Likely_benign
7	116781976	C	G	C116781976G	MET	NM_000245.4(MET):c.3523-12C>G	noncoding	Benign/Likely_benign
7	116782014	C	T	C116782014T	MET	NM_000245.4(MET):c.3549C>T:p.Gly1183=	coding	Benign/Likely_benign
7	116782027	G	T	G116782027T	MET	NM_001127500.3(MET):c.3616G>T:p.Val1206Leu	coding	Pathogenic
7	116782048	C	G	C116782048G	MET	NM_001127500.3(MET):c.3637C>G:p.Leu1213Val	coding	Pathogenic
7	116783329	G	A	G116783329A	MET	NM_000245.4(MET):c.3658G>A:p.Val1220Ile	coding	Pathogenic/Likely_pathogenic
7	116783353	G	A	G116783353A	MET	NM_001127500.3(MET):c.3736G>A:p.Asp1246Asn	coding	Pathogenic/Likely_pathogenic
7	116783360	A	G	A116783360G	MET	NM_001127500.3(MET):c.3743A>G:p.Tyr1248Cys	coding	Pathogenic/Likely_pathogenic
7	116783402	A	G	A116783402G	MET	NM_001127500.3(MET):c.3785A>G:p.Lys1262Arg	coding	Pathogenic
7	116783421	G	A	G116783421A	MET	NM_001127500.3(MET):c.3804G>A:p.Met1268Ile	coding	Pathogenic/Likely_pathogenic
7	116795660	C	T	C116795660T	MET	NM_000245.4(MET):c.3804C>T:p.Ser1268=	coding	Benign
7	116795666	C	T	C116795666T	MET	NM_000245.4(MET):c.3810C>T:p.Gly1270=	coding	Benign/Likely_benign
7	116795714	C	T	C116795714T	MET	NM_000245.4(MET):c.3858C>T:p.Asp1286=	coding	Benign
7	116795968	G	A	G116795968A	MET	NM_000245.4(MET):c.4017G>A:p.Ala1339=	coding	Benign
7	116795989	G	A	G116795989A	MET	NM_000245.4(MET):c.4038G>A:p.Gly1346=	coding	Benign
7	116796038	G	A	G116796038A	MET	NM_000245.4(MET):c.4087G>A:p.Ala1363Thr	coding	Benign/Likely_benign
7	116796043	G	A	G116796043A	MET	NM_000245.4(MET):c.4092G>A:p.Pro1364=	coding	Benign
7	116796056	T	C	T116796056C	MET	NM_000245.4(MET):c.4105T>C:p.Leu1369=	coding	Benign/Likely_benign
7	116796211	G	A	G116796211A	MET	NM_001127500.3(MET):c.*87G>A	noncoding	Benign
7	116796325	C	T	C116796325T	MET	NM_001127500.3(MET):c.*201C>T	noncoding	Benign
7	116796340	C	A	C116796340A	MET	NM_001127500.3(MET):c.*216C>A	noncoding	Benign
7	116796355	T	G	T116796355G	MET	NM_001127500.3(MET):c.*231T>G	noncoding	Benign
7	116796500	G	T	G116796500T	MET	NM_001127500.3(MET):c.*376G>T	noncoding	Benign
7	116796509	G	A	G116796509A	MET	NM_001127500.3(MET):c.*385G>A	noncoding	Benign
7	116796521	A	G	A116796521G	MET	NM_001127500.3(MET):c.*397A>G	noncoding	Benign
7	116797068	A	G	A116797068G	MET	NM_001127500.3(MET):c.*944A>G	noncoding	Benign
7	116797134	G	T	G116797134T	MET	NM_001127500.3(MET):c.*1010G>T	noncoding	Benign
7	116797152	A	G	A116797152G	MET	NM_001127500.3(MET):c.*1028A>G	noncoding	Benign
7	116797344	G	A	G116797344A	MET	NM_001127500.3(MET):c.*1220G>A	noncoding	Benign
7	116797348	C	T	C116797348T	MET	NM_001127500.3(MET):c.*1224C>T	noncoding	Benign
7	116797357	G	A	G116797357A	MET	NM_001127500.3(MET):c.*1233G>A	noncoding	Benign
7	116797368	G	A	G116797368A	MET	NM_001127500.3(MET):c.*1244G>A	noncoding	Benign
7	116797450	A	G	A116797450G	MET	NM_001127500.3(MET):c.*1326A>G	noncoding	Benign
7	116797552	G	A	G116797552A	MET	NM_001127500.3(MET):c.*1428G>A	noncoding	Benign
7	116797995	G	A	G116797995A	MET	NM_001127500.3(MET):c.*1871G>A	noncoding	Benign
7	116798111	C	T	C116798111T	MET	NM_001127500.3(MET):c.*1987C>T	noncoding	Benign
7	116798224	C	T	C116798224T	MET	NM_001127500.3(MET):c.*2100C>T	noncoding	Benign
7	116798326	G	A	G116798326A	MET	NM_001127500.3(MET):c.*2202G>A	noncoding	Benign
7	116798364	G	A	G116798364A	MET	NM_001127500.3(MET):c.*2240G>A	noncoding	Benign
7	116917772	A	G	A116917772G	CAPZA2	NM_006136.3(CAPZA2):c.766A>G:p.Lys256Glu	coding	Pathogenic
7	116917782	G	T	G116917782T	CAPZA2	NM_006136.3(CAPZA2):c.776G>T:p.Arg259Leu	coding	Pathogenic
7	117130581	G	A	G117130581A	ST7	NM_018412.4(ST7):c.540G>A:p.Ser180=	coding	Benign
7	117222070	T	C	T117222070C	ST7	NM_001369598.1(ST7):c.1638+8T>C	noncoding	Benign
7	117278181	T	C	T117278181C	WNT2	NM_003391.3(WNT2):c.1057A>G:p.Asn353Asp	coding	Benign
7	117297673	C	T	C117297673T	WNT2	NM_003391.3(WNT2):c.792G>A:p.Thr264=	coding	Benign
7	117426924	C	T	C117426924T	ASZ1	NM_130768.3(ASZ1):c.117G>A:p.Arg39=	coding	Benign
7	117479129	T	G	T117479129G	CFTR	NG_016465.4:g.18346T>G	noncoding	Benign
7	117480010	C	G	C117480010G	CFTR	NC_000007.14:g.117480010C>G	noncoding	Benign
7	117480087	G	C	G117480087C	CFTR	NM_000492.4(CFTR):c.-8G>C	noncoding	Benign/Likely_benign
7	117480091	G	C	G117480091C	CFTR	NM_000492.3(CFTR):c.-4G>C	noncoding	Benign/Likely_benign
7	117480095	A	G	A117480095G	CFTR	NM_000492.4(CFTR):c.1A>G:p.Met1Val	coding	Pathogenic
7	117480096	T	A	T117480096A	CFTR	NM_000492.3(CFTR):c.2T>A:p.Met1Lys	coding	Pathogenic
7	117480096	T	C	T117480096C	CFTR	NM_000492.3(CFTR):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
7	117480096	T	G	T117480096G	CFTR	NM_000492.4(CFTR):c.2T>G:p.Met1Arg	coding	Pathogenic
7	117480097	G	A	G117480097A	CFTR	NM_000492.4(CFTR):c.3G>A:p.Met1Ile	coding	Pathogenic
7	117480098	C	T	C117480098T	CFTR	NM_000492.4(CFTR):c.4C>T:p.Gln2Ter	coding	Pathogenic
7	117480105	C	A	C117480105A	CFTR	NM_000492.4(CFTR):c.11C>A:p.Ser4Ter	coding	Pathogenic
7	117480113	G	T	G117480113T	CFTR	NM_000492.3(CFTR):c.19G>T:p.Glu7Ter	coding	Pathogenic
7	117480132	C	T	C117480132T	CFTR	NM_000492.4(CFTR):c.38C>T:p.Ser13Phe	coding	Pathogenic
7	117480134	A	T	A117480134T	CFTR	NM_000492.3(CFTR):c.40A>T:p.Lys14Ter	coding	Pathogenic
7	117480138	T	C	T117480138C	CFTR	NM_000492.3(CFTR):c.44T>C:p.Leu15Pro	coding	Pathogenic
7	117480148	G	T	G117480148T	CFTR	NM_000492.4(CFTR):c.53+1G>T	coding	Pathogenic
7	117483305	A	G	A117483305G	CFTR	NM_000492.4(CFTR):c.53+3158A>G	noncoding	Benign
7	117504256	G	A	G117504256A	CFTR	NM_000492.3(CFTR):c.57G>A:p.Trp19Ter	coding	Pathogenic
7	117504278	G	A	G117504278A	CFTR	NM_000492.3(CFTR):c.79G>A:p.Gly27Arg	coding	Pathogenic
7	117504278	G	T	G117504278T	CFTR	NM_000492.3(CFTR):c.79G>T:p.Gly27Ter	coding	Pathogenic
7	117504287	C	T	C117504287T	CFTR	NM_000492.3(CFTR):c.88C>T:p.Gln30Ter	coding	Pathogenic
7	117504314	C	T	C117504314T	CFTR	NM_000492.3(CFTR):c.115C>T:p.Gln39Ter	coding	Pathogenic
7	117504330	A	G	A117504330G	CFTR	NM_000492.3(CFTR):c.131A>G:p.Asp44Gly	coding	Pathogenic
7	117504336	C	A	C117504336A	CFTR	NM_000492.3(CFTR):c.137C>A:p.Ala46Asp	coding	Pathogenic
7	117504347	T	C	T117504347C	CFTR	NM_000492.3(CFTR):c.148T>C:p.Ser50Pro	coding	Pathogenic
7	117504364	G	A	G117504364A	CFTR	NM_000492.3(CFTR):c.164+1G>A	coding	Pathogenic
7	117504364	G	C	G117504364C	CFTR	NM_000492.3(CFTR):c.164+1G>C	coding	Pathogenic/Likely_pathogenic
7	117504364	G	T	G117504364T	CFTR	NM_000492.3(CFTR):c.164+1G>T	coding	Pathogenic
7	117504365	T	C	T117504365C	CFTR	NM_000492.3(CFTR):c.164+2T>C	noncoding	Pathogenic
7	117504391	A	G	A117504391G	CFTR	NM_000492.3(CFTR):c.164+28A>G	noncoding	Benign/Likely_benign
7	117509031	C	T	C117509031T	CFTR	NM_000492.3(CFTR):c.165-3C>T	noncoding	Pathogenic
7	117509032	A	C	A117509032C	CFTR	NM_000492.4(CFTR):c.165-2A>C	noncoding	Pathogenic
7	117509032	A	G	A117509032G	CFTR	NM_000492.3(CFTR):c.165-2A>G	noncoding	Pathogenic
7	117509033	G	A	G117509033A	CFTR	NM_000492.3(CFTR):c.165-1G>A	noncoding	Pathogenic
7	117509035	G	T	G117509035T	CFTR	NM_000492.4(CFTR):c.166G>T:p.Glu56Ter	coding	Pathogenic
7	117509038	T	G	T117509038G	CFTR	NM_000492.4(CFTR):c.169T>G:p.Trp57Gly	coding	Pathogenic
7	117509039	G	A	G117509039A	CFTR	NM_000492.3(CFTR):c.170G>A:p.Trp57Ter	coding	Pathogenic
7	117509040	G	A	G117509040A	CFTR	NM_000492.3(CFTR):c.171G>A:p.Trp57Ter	coding	Pathogenic
7	117509047	G	A	G117509047A	CFTR	NM_000492.3(CFTR):c.178G>A:p.Glu60Lys	coding	Pathogenic
7	117509047	G	T	G117509047T	CFTR	NM_000492.3(CFTR):c.178G>T:p.Glu60Ter	coding	Pathogenic
7	117509092	C	T	C117509092T	CFTR	NM_000492.3(CFTR):c.223C>T:p.Arg75Ter	coding	Pathogenic
7	117509105	G	A	G117509105A	CFTR	NM_000492.3(CFTR):c.236G>A:p.Trp79Ter	coding	Pathogenic
7	117509123	G	A	G117509123A	CFTR	NM_000492.4(CFTR):c.254G>A:p.Gly85Glu	coding	Pathogenic
7	117509123	G	T	G117509123T	CFTR	NM_000492.4(CFTR):c.254G>T:p.Gly85Val	coding	Pathogenic
7	117509132	T	A	T117509132A	CFTR	NM_000492.3(CFTR):c.263T>A:p.Leu88Ter	coding	Pathogenic
7	117509132	T	G	T117509132G	CFTR	NM_000492.3(CFTR):c.263T>G:p.Leu88Ter	coding	Pathogenic
7	117509140	G	A	G117509140A	CFTR	NM_000492.3(CFTR):c.271G>A:p.Gly91Arg	coding	Pathogenic
7	117509143	G	A	G117509143A	CFTR	NM_000492.3(CFTR):c.273+1G>A	coding	Pathogenic
7	117509145	A	C	A117509145C	CFTR	NM_000492.3(CFTR):c.273+3A>C	noncoding	Pathogenic
7	117509188	T	G	T117509188G	CFTR	NM_000492.4(CFTR):c.273+46T>G	noncoding	Benign
7	117530897	A	C	A117530897C	CFTR	NM_000492.4(CFTR):c.274-2A>C	noncoding	Pathogenic
7	117530897	A	G	A117530897G	CFTR	NM_000492.3(CFTR):c.274-2A>G	noncoding	Pathogenic
7	117530898	G	A	G117530898A	CFTR	NM_000492.3(CFTR):c.274-1G>A	noncoding	Pathogenic
7	117530898	G	C	G117530898C	CFTR	NM_000492.3(CFTR):c.274-1G>C	noncoding	Pathogenic/Likely_pathogenic
7	117530898	G	T	G117530898T	CFTR	NM_000492.3(CFTR):c.274-1G>T	noncoding	Pathogenic
7	117530899	G	A	G117530899A	CFTR	NM_000492.3(CFTR):c.274G>A:p.Glu92Lys	coding	Pathogenic
7	117530899	G	T	G117530899T	CFTR	NM_000492.4(CFTR):c.274G>T:p.Glu92Ter	coding	Pathogenic
7	117530917	C	T	C117530917T	CFTR	NM_000492.4(CFTR):c.292C>T:p.Gln98Ter	coding	Pathogenic
7	117530918	A	G	A117530918G	CFTR	NM_000492.3(CFTR):c.293A>G:p.Gln98Arg	coding	Pathogenic
7	117530921	C	T	C117530921T	CFTR	NM_000492.3(CFTR):c.296C>T:p.Pro99Leu	coding	Pathogenic
7	117530930	T	G	T117530930G	CFTR	NM_000492.3(CFTR):c.305T>G:p.Leu102Arg	coding	Pathogenic
7	117530951	A	G	A117530951G	CFTR	NM_000492.4(CFTR):c.326A>G:p.Tyr109Cys	coding	Pathogenic
7	117530952	T	A	T117530952A	CFTR	NM_000492.3(CFTR):c.327T>A:p.Tyr109Ter	coding	Pathogenic/Likely_pathogenic
7	117530974	C	T	C117530974T	CFTR	NM_000492.4(CFTR):c.349C>T:p.Arg117Cys	coding	Pathogenic
7	117530975	G	A	G117530975A	CFTR	NM_000492.4(CFTR):c.350G>A:p.Arg117His	coding	Pathogenic
7	117530975	G	C	G117530975C	CFTR	NM_000492.3(CFTR):c.350G>C:p.Arg117Pro	coding	Pathogenic
7	117530991	T	A	T117530991A	CFTR	NM_000492.3(CFTR):c.366T>A:p.Tyr122Ter	coding	Pathogenic
7	117531002	G	A	G117531002A	CFTR	NM_000492.3(CFTR):c.377G>A:p.Gly126Asp	coding	Pathogenic
7	117531041	A	G	A117531041G	CFTR	NM_000492.3(CFTR):c.416A>G:p.His139Arg	coding	Pathogenic
7	117531070	G	A	G117531070A	CFTR	NM_000492.3(CFTR):c.445G>A:p.Gly149Arg	coding	Pathogenic
7	117531079	A	G	A117531079G	CFTR	NM_000492.3(CFTR):c.454A>G:p.Met152Val	coding	Pathogenic
7	117531106	T	G	T117531106G	CFTR	NM_000492.3(CFTR):c.481T>G:p.Tyr161Asp	coding	Pathogenic
7	117531115	G	T	G117531115T	CFTR	NM_000492.4(CFTR):c.489+1G>T	coding	Pathogenic
7	117531116	T	C	T117531116C	CFTR	NM_000492.3(CFTR):c.489+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	117531116	T	G	T117531116G	CFTR	NM_000492.3(CFTR):c.489+2T>G	noncoding	Pathogenic
7	117534273	T	G	T117534273G	CFTR	NM_000492.4(CFTR):c.490-3T>G	noncoding	Pathogenic
7	117534275	G	A	G117534275A	CFTR	NM_000492.3(CFTR):c.490-1G>A	noncoding	Pathogenic/Likely_pathogenic
7	117534275	G	T	G117534275T	CFTR	NM_000492.4(CFTR):c.490-1G>T	noncoding	Pathogenic
7	117534280	T	C	T117534280C	CFTR	NM_000492.3(CFTR):c.494T>C:p.Leu165Ser	coding	Pathogenic
7	117534363	G	T	G117534363T	CFTR	NM_000492.3(CFTR):c.577G>T:p.Glu193Ter	coding	Pathogenic
7	117534366	G	A	G117534366A	CFTR	NM_000492.4(CFTR):c.579+1G>A	coding	Pathogenic
7	117534366	G	T	G117534366T	CFTR	NM_000492.4(CFTR):c.579+1G>T	coding	Pathogenic
7	117534368	A	G	A117534368G	CFTR	NM_000492.4(CFTR):c.579+3A>G	noncoding	Pathogenic
7	117534370	G	A	G117534370A	CFTR	NM_000492.4(CFTR):c.579+5G>A	noncoding	Pathogenic
7	117535246	A	C	A117535246C	CFTR	NM_000492.4(CFTR):c.580-2A>C	noncoding	Pathogenic
7	117535246	A	G	A117535246G	CFTR	NM_000492.4(CFTR):c.580-2A>G	noncoding	Pathogenic
7	117535247	G	T	G117535247T	CFTR	NM_000492.4(CFTR):c.580-1G>T	noncoding	Pathogenic
7	117535263	C	T	C117535263T	CFTR	NM_000492.3(CFTR):c.595C>T:p.His199Tyr	coding	Pathogenic
7	117535264	A	G	A117535264G	CFTR	NM_000492.3(CFTR):c.596A>G:p.His199Arg	coding	Pathogenic
7	117535281	C	T	C117535281T	CFTR	NM_000492.4(CFTR):c.613C>T:p.Pro205Ser	coding	Pathogenic
7	117535315	G	A	G117535315A	CFTR	NM_000492.3(CFTR):c.647G>A:p.Trp216Ter	coding	Pathogenic
7	117535321	T	A	T117535321A	CFTR	NM_000492.3(CFTR):c.653T>A:p.Leu218Ter	coding	Pathogenic
7	117535326	C	T	C117535326T	CFTR	NM_000492.4(CFTR):c.658C>T:p.Gln220Ter	coding	Pathogenic
7	117535343	T	A	T117535343A	CFTR	NM_000492.4(CFTR):c.675T>A:p.Cys225Ter	coding	Pathogenic
7	117535348	T	G	T117535348G	CFTR	NM_000492.3(CFTR):c.680T>G:p.Leu227Arg	coding	Pathogenic
7	117535363	T	A	T117535363A	CFTR	NM_000492.4(CFTR):c.695T>A:p.Val232Asp	coding	Pathogenic
7	117535412	G	A	G117535412A	CFTR	NM_000492.4(CFTR):c.743+1G>A	coding	Pathogenic
7	117535451	A	G	A117535451G	CFTR	NM_000492.3(CFTR):c.743+40A>G	noncoding	Benign
7	117536612	C	T	C117536612T	CFTR	NM_000492.4(CFTR):c.808C>T:p.Gln270Ter	coding	Pathogenic
7	117536629	C	G	C117536629G	CFTR	NM_000492.4(CFTR):c.825C>G:p.Tyr275Ter	coding	Pathogenic
7	117536632	C	A	C117536632A	CFTR	NM_000492.3(CFTR):c.828C>A:p.Cys276Ter	coding	Pathogenic
7	117536634	G	A	G117536634A	CFTR	NM_000492.3(CFTR):c.830G>A:p.Trp277Ter	coding	Pathogenic
7	117536657	A	T	A117536657T	CFTR	NM_000492.3(CFTR):c.853A>T:p.Ile285Phe	coding	Benign/Likely_benign
7	117536667	T	G	T117536667G	CFTR	NM_000492.4(CFTR):c.863T>G:p.Leu288Ter	coding	Pathogenic
7	117536672	C	T	C117536672T	CFTR	NM_000492.3(CFTR):c.868C>T:p.Gln290Ter	coding	Pathogenic
7	117536674	G	C	G117536674C	CFTR	NM_000492.3(CFTR):c.869+1G>C	coding	Pathogenic
7	117536674	G	T	G117536674T	CFTR	NM_000492.4(CFTR):c.869+1G>T	coding	Pathogenic
7	117536684	C	T	C117536684T	CFTR	NM_000492.4(CFTR):c.869+11C>T	noncoding	Benign
7	117540099	G	C	G117540099C	CFTR	NM_000492.3(CFTR):c.870-1G>C	noncoding	Pathogenic/Likely_pathogenic
7	117540104	G	T	G117540104T	CFTR	NM_000492.4(CFTR):c.874G>T:p.Glu292Ter	coding	Pathogenic
7	117540122	A	T	A117540122T	CFTR	NM_000492.4(CFTR):c.892A>T:p.Lys298Ter	coding	Pathogenic/Likely_pathogenic
7	117540142	C	G	C117540142G	CFTR	NM_000492.3(CFTR):c.912C>G:p.Tyr304Ter	coding	Pathogenic
7	117540163	C	G	C117540163G	CFTR	NM_000492.3(CFTR):c.933C>G:p.Phe311Leu	coding	Pathogenic
7	117540189	T	A	T117540189A	CFTR	NM_000492.3(CFTR):c.959T>A:p.Leu320Ter	coding	Pathogenic
7	117540218	G	T	G117540218T	CFTR	NM_000492.3(CFTR):c.988G>T:p.Gly330Ter	coding	Pathogenic
7	117540230	C	T	C117540230T	CFTR	NM_000492.4(CFTR):c.1000C>T:p.Arg334Trp	coding	Pathogenic
7	117540231	G	T	G117540231T	CFTR	NM_000492.3(CFTR):c.1001G>T:p.Arg334Leu	coding	Pathogenic
7	117540237	T	A	T117540237A	CFTR	NM_000492.4(CFTR):c.1007T>A:p.Ile336Lys	coding	Pathogenic
7	117540243	C	T	C117540243T	CFTR	NM_000492.3(CFTR):c.1013C>T:p.Thr338Ile	coding	Pathogenic
7	117540251	T	C	T117540251C	CFTR	NM_000492.3(CFTR):c.1021T>C:p.Ser341Pro	coding	Pathogenic
7	117540267	T	C	T117540267C	CFTR	NM_000492.3(CFTR):c.1037T>C:p.Leu346Pro	coding	Pathogenic
7	117540270	G	C	G117540270C	CFTR	NM_000492.4(CFTR):c.1040G>C:p.Arg347Pro	coding	Pathogenic
7	117540270	G	T	G117540270T	CFTR	NM_000492.3(CFTR):c.1040G>T:p.Arg347Leu	coding	Pathogenic/Likely_pathogenic
7	117540287	C	T	C117540287T	CFTR	NM_000492.3(CFTR):c.1057C>T:p.Gln353Ter	coding	Pathogenic
7	117540311	T	C	T117540311C	CFTR	NM_000492.3(CFTR):c.1081T>C:p.Trp361Arg	coding	Pathogenic
7	117540347	G	A	G117540347A	CFTR	NM_000492.4(CFTR):c.1116+1G>A	coding	Pathogenic
7	117540347	G	T	G117540347T	CFTR	NM_000492.4(CFTR):c.1116+1G>T	coding	Pathogenic
7	117542011	A	G	A117542011G	CFTR	NM_000492.3(CFTR):c.1117-5A>G	noncoding	Pathogenic
7	117542015	G	A	G117542015A	CFTR	NM_000492.3(CFTR):c.1117-1G>A	noncoding	Pathogenic
7	117542025	C	T	C117542025T	CFTR	NM_000492.4(CFTR):c.1126C>T:p.Gln376Ter	coding	Pathogenic
7	117542101	G	A	G117542101A	CFTR	NM_000492.3(CFTR):c.1202G>A:p.Trp401Ter	coding	Pathogenic
7	117542102	G	A	G117542102A	CFTR	NM_000492.3(CFTR):c.1203G>A:p.Trp401Ter	coding	Pathogenic
7	117542108	G	A	G117542108A	CFTR	NM_000492.3(CFTR):c.1209G>A:p.Glu403=	coding	Pathogenic
7	117542108	G	C	G117542108C	CFTR	NM_000492.3(CFTR):c.1209G>C:p.Glu403Asp	coding	Pathogenic
7	117542109	G	A	G117542109A	CFTR	NM_000492.3(CFTR):c.1209+1G>A	coding	Pathogenic
7	117542109	G	T	G117542109T	CFTR	NM_000492.4(CFTR):c.1209+1G>T	coding	Pathogenic/Likely_pathogenic
7	117542110	T	G	T117542110G	CFTR	NM_000492.4(CFTR):c.1209+2T>G	noncoding	Pathogenic
7	117548628	G	T	G117548628T	CFTR	NM_000492.4(CFTR):c.1210-13G>T	noncoding	Benign/Likely_benign
7	117548639	A	C	A117548639C	CFTR	NM_000492.3(CFTR):c.1210-2A>C	noncoding	Pathogenic
7	117548671	C	T	C117548671T	CFTR	NM_000492.3(CFTR):c.1240C>T:p.Gln414Ter	coding	Pathogenic
7	117548685	T	C	T117548685C	CFTR	NM_000492.3(CFTR):c.1254T>C:p.Asn418=	coding	Benign/Likely_benign
7	117548732	C	A	C117548732A	CFTR	NM_000492.4(CFTR):c.1301C>A:p.Ser434Ter	coding	Pathogenic
7	117548732	C	G	C117548732G	CFTR	NM_000492.3(CFTR):c.1301C>G:p.Ser434Ter	coding	Pathogenic/Likely_pathogenic
7	117548755	A	T	A117548755T	CFTR	NM_000492.3(CFTR):c.1324A>T:p.Lys442Ter	coding	Pathogenic
7	117548789	T	C	T117548789C	CFTR	NM_000492.3(CFTR):c.1358T>C:p.Leu453Ser	coding	Pathogenic
7	117548795	C	A	C117548795A	CFTR	NM_000492.4(CFTR):c.1364C>A:p.Ala455Glu	coding	Pathogenic
7	117548798	T	C	T117548798C	CFTR	NM_000492.3(CFTR):c.1367T>C:p.Val456Ala	coding	Pathogenic
7	117548804	G	T	G117548804T	CFTR	NM_000492.3(CFTR):c.1373G>T:p.Gly458Val	coding	Pathogenic
7	117548823	G	T	G117548823T	CFTR	NM_000492.3(CFTR):c.1392G>T:p.Lys464Asn	coding	Pathogenic
7	117548824	G	A	G117548824A	CFTR	NM_000492.3(CFTR):c.1392+1G>A	coding	Pathogenic
7	117549218	G	A	G117549218A	CFTR	NM_000492.4(CFTR):c.1392+395G>A	noncoding	Benign
7	117559403	A	G	A117559403G	CFTR	NM_000492.4(CFTR):c.1393-61A>G	noncoding	Benign
7	117559422	G	A	G117559422A	CFTR	NM_000492.3(CFTR):c.1393-42G>A	noncoding	Benign
7	117559462	A	G	A117559462G	CFTR	NM_000492.3(CFTR):c.1393-2A>G	noncoding	Pathogenic
7	117559463	G	A	G117559463A	CFTR	NM_000492.4(CFTR):c.1393-1G>A	noncoding	Pathogenic
7	117559468	C	A	C117559468A	CFTR	NM_000492.3(CFTR):c.1397C>A:p.Ser466Ter	coding	Pathogenic
7	117559468	C	G	C117559468G	CFTR	NM_000492.4(CFTR):c.1397C>G:p.Ser466Ter	coding	Pathogenic
7	117559471	T	C	T117559471C	CFTR	NM_000492.3(CFTR):c.1400T>C:p.Leu467Pro	coding	Pathogenic
7	117559476	A	G	A117559476G	CFTR	NM_000492.3(CFTR):c.1405A>G:p.Met469Val	coding	Pathogenic
7	117559479	G	A	G117559479A	CFTR	NM_000492.4(CFTR):c.1408G>A:p.Val470Met	coding	Benign/Likely_benign
7	117559491	G	A	G117559491A	CFTR	NM_000492.3(CFTR):c.1420G>A:p.Glu474Lys	coding	Pathogenic
7	117559491	G	T	G117559491T	CFTR	NM_000492.4(CFTR):c.1420G>T:p.Glu474Ter	coding	Pathogenic
7	117559509	G	T	G117559509T	CFTR	NM_000492.3(CFTR):c.1438G>T:p.Gly480Cys	coding	Pathogenic/Likely_pathogenic
7	117559537	C	A	C117559537A	CFTR	NM_000492.3(CFTR):c.1466C>A:p.Ser489Ter	coding	Pathogenic
7	117559542	T	C	T117559542C	CFTR	NM_000492.3(CFTR):c.1471T>C:p.Cys491Arg	coding	Pathogenic
7	117559546	C	T	C117559546T	CFTR	NM_000492.3(CFTR):c.1475C>T:p.Ser492Phe	coding	Pathogenic
7	117559548	C	T	C117559548T	CFTR	NM_000492.3(CFTR):c.1477C>T:p.Gln493Ter	coding	Pathogenic
7	117559558	G	A	G117559558A	CFTR	NM_000492.3(CFTR):c.1487G>A:p.Trp496Ter	coding	Pathogenic
7	117559576	T	C	T117559576C	CFTR	NM_000492.3(CFTR):c.1505T>C:p.Ile502Thr	coding	Pathogenic
7	117559581	G	T	G117559581T	CFTR	NM_000492.4(CFTR):c.1510G>T:p.Glu504Ter	coding	Pathogenic
7	117559589	C	G	C117559589G	CFTR	NM_000492.3(CFTR):c.1518C>G:p.Ile506Met	coding	Pathogenic
7	117559609	A	G	A117559609G	CFTR	NM_000492.3(CFTR):c.1538A>G:p.Asp513Gly	coding	Pathogenic
7	117559621	A	G	A117559621G	CFTR	NM_000492.4(CFTR):c.1550A>G:p.Tyr517Cys	coding	Pathogenic
7	117559629	G	T	G117559629T	CFTR	NM_000492.3(CFTR):c.1558G>T:p.Val520Phe	coding	Pathogenic
7	117559643	C	A	C117559643A	CFTR	NM_000492.3(CFTR):c.1572C>A:p.Cys524Ter	coding	Pathogenic
7	117559644	C	T	C117559644T	CFTR	NM_000492.3(CFTR):c.1573C>T:p.Gln525Ter	coding	Pathogenic
7	117559652	A	G	A117559652G	CFTR	NM_000492.4(CFTR):c.1581A>G:p.Glu527=	coding	Benign/Likely_benign
7	117559656	G	A	G117559656A	CFTR	NM_000492.3(CFTR):c.1584+1G>A	coding	Pathogenic
7	117559657	T	C	T117559657C	CFTR	NM_000492.3(CFTR):c.1584+2T>C	noncoding	Pathogenic
7	117587731	G	A	G117587731A	CFTR	NM_000492.4(CFTR):c.1585-8G>A	noncoding	Pathogenic
7	117587737	A	G	A117587737G	CFTR	NM_000492.3(CFTR):c.1585-2A>G	noncoding	Pathogenic
7	117587738	G	A	G117587738A	CFTR	NM_000492.4(CFTR):c.1585-1G>A	noncoding	Pathogenic
7	117587778	G	T	G117587778T	CFTR	NM_000492.4(CFTR):c.1624G>T:p.Gly542Ter	coding	Pathogenic
7	117587800	G	T	G117587800T	CFTR	NM_000492.3(CFTR):c.1646G>T:p.Ser549Ile	coding	Pathogenic
7	117587801	T	A	T117587801A	CFTR	NM_000492.3(CFTR):c.1647T>A:p.Ser549Arg	coding	Pathogenic
7	117587802	G	T	G117587802T	CFTR	NM_000492.3(CFTR):c.1648G>T:p.Gly550Ter	coding	Pathogenic
7	117587806	G	A	G117587806A	CFTR	NM_000492.4(CFTR):c.1652G>A:p.Gly551Asp	coding	Pathogenic
7	117587808	C	T	C117587808T	CFTR	NM_000492.4(CFTR):c.1654C>T:p.Gln552Ter	coding	Pathogenic
7	117587811	C	T	C117587811T	CFTR	NM_000492.4(CFTR):c.1657C>T:p.Arg553Ter	coding	Pathogenic
7	117587827	T	C	T117587827C	CFTR	NM_000492.3(CFTR):c.1673T>C:p.Leu558Ser	coding	Pathogenic
7	117587829	G	A	G117587829A	CFTR	NM_000492.4(CFTR):c.1675G>A:p.Ala559Thr	coding	Pathogenic
7	117587833	G	A	G117587833A	CFTR	NM_000492.3(CFTR):c.1679G>A:p.Arg560Lys	coding	Pathogenic
7	117587833	G	C	G117587833C	CFTR	NM_000492.3(CFTR):c.1679G>C:p.Arg560Thr	coding	Pathogenic
7	117587834	G	A	G117587834A	CFTR	NM_000492.4(CFTR):c.1679+1G>A	coding	Pathogenic
7	117587834	G	C	G117587834C	CFTR	NM_000492.3(CFTR):c.1679+1G>C	coding	Pathogenic
7	117589467	A	G	A117589467G	CFTR	NM_000492.3(CFTR):c.1680-886A>G	noncoding	Pathogenic
7	117589470	A	G	A117589470G	CFTR	NM_000492.3(CFTR):c.1680-883A>G	noncoding	Pathogenic/Likely_pathogenic
7	117589476	G	T	G117589476T	CFTR	NM_000492.3(CFTR):c.1680-877G>T	noncoding	Pathogenic
7	117589483	T	A	T117589483A	CFTR	NM_000492.4(CFTR):c.1680-870T>A	noncoding	Benign
7	117590352	G	A	G117590352A	CFTR	NM_000492.4(CFTR):c.1680-1G>A	noncoding	Pathogenic
7	117590353	A	C	A117590353C	CFTR	NM_000492.3(CFTR):c.1680A>C:p.Arg560Ser	coding	Pathogenic
7	117590355	C	A	C117590355A	CFTR	NM_000492.4(CFTR):c.1682C>A:p.Ala561Glu	coding	Pathogenic
7	117590360	T	A	T117590360A	CFTR	NM_000492.3(CFTR):c.1687T>A:p.Tyr563Asn	coding	Pathogenic
7	117590360	T	C	T117590360C	CFTR	NM_000492.4(CFTR):c.1687T>C:p.Tyr563His	coding	Pathogenic
7	117590360	T	G	T117590360G	CFTR	NM_000492.3(CFTR):c.1687T>G:p.Tyr563Asp	coding	Pathogenic
7	117590367	A	G	A117590367G	CFTR	NM_000492.3(CFTR):c.1694A>G:p.Asp565Gly	coding	Pathogenic
7	117590378	T	C	T117590378C	CFTR	NM_000492.3(CFTR):c.1705T>C:p.Tyr569His	coding	Pathogenic/Likely_pathogenic
7	117590378	T	G	T117590378G	CFTR	NM_000492.3(CFTR):c.1705T>G:p.Tyr569Asp	coding	Pathogenic
7	117590379	A	G	A117590379G	CFTR	NM_000492.4(CFTR):c.1706A>G:p.Tyr569Cys	coding	Pathogenic
7	117590380	T	A	T117590380A	CFTR	NM_000492.3(CFTR):c.1707T>A:p.Tyr569Ter	coding	Pathogenic
7	117590394	C	A	C117590394A	CFTR	NM_000492.3(CFTR):c.1721C>A:p.Pro574His	coding	Pathogenic
7	117590409	A	G	A117590409G	CFTR	NM_000492.4(CFTR):c.1736A>G:p.Asp579Gly	coding	Pathogenic
7	117590426	G	T	G117590426T	CFTR	NM_000492.4(CFTR):c.1753G>T:p.Glu585Ter	coding	Pathogenic
7	117590440	G	A	G117590440A	CFTR	NM_000492.4(CFTR):c.1766+1G>A	coding	Pathogenic
7	117590440	G	C	G117590440C	CFTR	NM_000492.3(CFTR):c.1766+1G>C	coding	Pathogenic
7	117590440	G	T	G117590440T	CFTR	NM_000492.3(CFTR):c.1766+1G>T	coding	Pathogenic
7	117590441	T	A	T117590441A	CFTR	NM_000492.3(CFTR):c.1766+2T>A	noncoding	Pathogenic/Likely_pathogenic
7	117590441	T	C	T117590441C	CFTR	NM_000492.3(CFTR):c.1766+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	117590442	A	C	A117590442C	CFTR	NM_000492.4(CFTR):c.1766+3A>C	noncoding	Pathogenic
7	117590442	A	G	A117590442G	CFTR	NM_000492.4(CFTR):c.1766+3A>G	noncoding	Pathogenic
7	117590444	G	A	G117590444A	CFTR	NM_000492.3(CFTR):c.1766+5G>A	noncoding	Pathogenic
7	117590444	G	T	G117590444T	CFTR	NM_000492.4(CFTR):c.1766+5G>T	noncoding	Pathogenic
7	117590591	T	A	T117590591A	CFTR	NM_000492.4(CFTR):c.1766+152T>A	noncoding	Benign
7	117591968	A	T	A117591968T	CFTR	NM_000492.3(CFTR):c.1801A>T:p.Ile601Phe	coding	Pathogenic
7	117591993	A	G	A117591993G	CFTR	NM_000492.3(CFTR):c.1826A>G:p.His609Arg	coding	Pathogenic
7	117592004	G	A	G117592004A	CFTR	NM_000492.3(CFTR):c.1837G>A:p.Ala613Thr	coding	Pathogenic
7	117592020	T	C	T117592020C	CFTR	NM_000492.4(CFTR):c.1853T>C:p.Ile618Thr	coding	Pathogenic/Likely_pathogenic
7	117592032	G	A	G117592032A	CFTR	NM_000492.4(CFTR):c.1865G>A:p.Gly622Asp	coding	Pathogenic/Likely_pathogenic
7	117592049	G	A	G117592049A	CFTR	NM_000492.3(CFTR):c.1882G>A:p.Gly628Arg	coding	Pathogenic
7	117592049	G	C	G117592049C	CFTR	NM_000492.3(CFTR):c.1882G>C:p.Gly628Arg	coding	Pathogenic
7	117592103	G	T	G117592103T	CFTR	NM_000492.4(CFTR):c.1936G>T:p.Gly646Ter	coding	Pathogenic
7	117592110	A	T	A117592110T	CFTR	NM_000492.3(CFTR):c.1943A>T:p.Asp648Val	coding	Pathogenic
7	117592133	G	T	G117592133T	CFTR	NM_000492.3(CFTR):c.1966G>T:p.Glu656Ter	coding	Pathogenic
7	117592157	G	T	G117592157T	CFTR	NM_000492.3(CFTR):c.1990G>T:p.Glu664Ter	coding	Pathogenic/Likely_pathogenic
7	117592184	G	T	G117592184T	CFTR	NM_000492.3(CFTR):c.2017G>T:p.Gly673Ter	coding	Pathogenic
7	117592203	G	A	G117592203A	CFTR	NM_000492.3(CFTR):c.2036G>A:p.Trp679Ter	coding	Pathogenic/Likely_pathogenic
7	117592220	C	T	C117592220T	CFTR	NM_000492.3(CFTR):c.2053C>T:p.Gln685Ter	coding	Pathogenic
7	117592232	C	T	C117592232T	CFTR	NM_000492.4(CFTR):c.2065C>T:p.Gln689Ter	coding	Pathogenic
7	117592292	C	T	C117592292T	CFTR	NM_000492.4(CFTR):c.2125C>T:p.Arg709Ter	coding	Pathogenic
7	117592295	A	T	A117592295T	CFTR	NM_000492.3(CFTR):c.2128A>T:p.Lys710Ter	coding	Pathogenic
7	117592310	C	T	C117592310T	CFTR	NM_000492.4(CFTR):c.2143C>T:p.Gln715Ter	coding	Pathogenic
7	117592313	A	T	A117592313T	CFTR	NM_000492.3(CFTR):c.2146A>T:p.Lys716Ter	coding	Pathogenic
7	117592325	C	T	C117592325T	CFTR	NM_000492.3(CFTR):c.2158C>T:p.Gln720Ter	coding	Pathogenic
7	117592362	T	G	T117592362G	CFTR	NM_000492.4(CFTR):c.2195T>G:p.Leu732Ter	coding	Pathogenic
7	117592400	G	T	G117592400T	CFTR	NM_000492.3(CFTR):c.2233G>T:p.Gly745Ter	coding	Pathogenic
7	117592457	C	T	C117592457T	CFTR	NM_000492.4(CFTR):c.2290C>T:p.Arg764Ter	coding	Pathogenic
7	117592466	C	T	C117592466T	CFTR	NM_000492.4(CFTR):c.2299C>T:p.Gln767Ter	coding	Pathogenic
7	117592494	C	G	C117592494G	CFTR	NM_000492.3(CFTR):c.2327C>G:p.Ser776Ter	coding	Pathogenic
7	117592520	C	T	C117592520T	CFTR	NM_000492.3(CFTR):c.2353C>T:p.Arg785Ter	coding	Pathogenic
7	117592541	C	T	C117592541T	CFTR	NM_000492.4(CFTR):c.2374C>T:p.Arg792Ter	coding	Pathogenic
7	117592595	A	T	A117592595T	CFTR	NM_000492.4(CFTR):c.2428A>T:p.Arg810Ter	coding	Pathogenic
7	117592610	G	T	G117592610T	CFTR	NM_000492.3(CFTR):c.2443G>T:p.Glu815Ter	coding	Pathogenic
7	117592631	G	T	G117592631T	CFTR	NM_000492.3(CFTR):c.2464G>T:p.Glu822Ter	coding	Pathogenic
7	117592643	G	T	G117592643T	CFTR	NM_000492.4(CFTR):c.2476G>T:p.Glu826Ter	coding	Pathogenic
7	117592646	G	T	G117592646T	CFTR	NM_000492.3(CFTR):c.2479G>T:p.Glu827Ter	coding	Pathogenic
7	117592655	A	T	A117592655T	CFTR	NM_000492.3(CFTR):c.2488A>T:p.Lys830Ter	coding	Pathogenic
7	117592658	G	A	G117592658A	CFTR	NM_000492.3(CFTR):c.2490+1G>A	coding	Pathogenic
7	117592658	G	T	G117592658T	CFTR	NM_000492.4(CFTR):c.2490+1G>T	coding	Pathogenic
7	117594930	G	T	G117594930T	CFTR	NM_000492.4(CFTR):c.2491G>T:p.Glu831Ter	coding	Pathogenic
7	117594935	C	A	C117594935A	CFTR	NM_000492.3(CFTR):c.2496C>A:p.Cys832Ter	coding	Pathogenic
7	117594976	G	A	G117594976A	CFTR	NM_000492.3(CFTR):c.2537G>A:p.Trp846Ter	coding	Pathogenic
7	117594977	G	A	G117594977A	CFTR	NM_000492.3(CFTR):c.2538G>A:p.Trp846Ter	coding	Pathogenic
7	117594986	C	A	C117594986A	CFTR	NM_000492.3(CFTR):c.2547C>A:p.Tyr849Ter	coding	Pathogenic
7	117594990	C	T	C117594990T	CFTR	NM_000492.4(CFTR):c.2551C>T:p.Arg851Ter	coding	Pathogenic
7	117594995	T	G	T117594995G	CFTR	NM_000492.4(CFTR):c.2556T>G:p.Tyr852Ter	coding	Pathogenic
7	117595001	T	G	T117595001G	CFTR	NM_000492.4(CFTR):c.2562T>G:p.Thr854=	coding	Benign/Likely_benign
7	117595039	T	A	T117595039A	CFTR	NM_000492.3(CFTR):c.2600T>A:p.Leu867Ter	coding	Pathogenic
7	117595039	T	G	T117595039G	CFTR	NM_000492.4(CFTR):c.2600T>G:p.Leu867Ter	coding	Pathogenic
7	117595043	A	G	A117595043G	CFTR	NM_000492.3(CFTR):c.2604A>G:p.Val868=	coding	Benign/Likely_benign
7	117595059	G	A	G117595059A	CFTR	NM_000492.3(CFTR):c.2619+1G>A	coding	Pathogenic
7	117602824	A	G	A117602824G	CFTR	NM_000492.3(CFTR):c.2620-2A>G	noncoding	Pathogenic
7	117602851	G	A	G117602851A	CFTR	NM_000492.3(CFTR):c.2645G>A:p.Trp882Ter	coding	Pathogenic
7	117602868	G	A	G117602868A	CFTR	NM_000492.4(CFTR):c.2657+5G>A	noncoding	Pathogenic
7	117603530	A	G	A117603530G	CFTR	NM_000492.4(CFTR):c.2658-2A>G	noncoding	Pathogenic
7	117603531	G	C	G117603531C	CFTR	NM_000492.3(CFTR):c.2658-1G>C	noncoding	Pathogenic
7	117603531	G	T	G117603531T	CFTR	NM_000492.3(CFTR):c.2658-1G>T	noncoding	Pathogenic
7	117603542	C	T	C117603542T	CFTR	NM_000492.3(CFTR):c.2668C>T:p.Gln890Ter	coding	Pathogenic
7	117603574	T	A	T117603574A	CFTR	NM_000492.3(CFTR):c.2700T>A:p.Asn900Lys	coding	Pathogenic
7	117603597	C	A	C117603597A	CFTR	NM_000492.3(CFTR):c.2723C>A:p.Thr908Asn	coding	Pathogenic
7	117603609	C	A	C117603609A	CFTR	NM_000492.4(CFTR):c.2735C>A:p.Ser912Ter	coding	Pathogenic
7	117603613	T	A	T117603613A	CFTR	NM_000492.4(CFTR):c.2739T>A:p.Tyr913Ter	coding	Pathogenic
7	117603631	C	G	C117603631G	CFTR	NM_000492.3(CFTR):c.2757C>G:p.Tyr919Ter	coding	Pathogenic
7	117603654	T	C	T117603654C	CFTR	NM_000492.3(CFTR):c.2780T>C:p.Leu927Pro	coding	Pathogenic
7	117603694	T	G	T117603694G	CFTR	NM_000492.4(CFTR):c.2820T>G:p.Thr940=	coding	Benign/Likely_benign
7	117603719	C	T	C117603719T	CFTR	NM_000492.3(CFTR):c.2845C>T:p.His949Tyr	coding	Pathogenic
7	117603782	G	C	G117603782C	CFTR	NM_000492.3(CFTR):c.2908G>C:p.Gly970Arg	coding	Pathogenic
7	117603783	G	A	G117603783A	CFTR	NM_000492.3(CFTR):c.2908+1G>A	coding	Pathogenic/Likely_pathogenic
7	117606582	G	A	G117606582A	CFTR	NM_000492.4(CFTR):c.2909-92G>A	noncoding	Benign
7	117606603	G	C	G117606603C	CFTR	NM_000492.4(CFTR):c.2909-71G>C	noncoding	Benign
7	117606659	T	G	T117606659G	CFTR	NM_000492.3(CFTR):c.2909-15T>G	noncoding	Pathogenic/Likely_pathogenic
7	117606673	G	C	G117606673C	CFTR	NM_000492.4(CFTR):c.2909-1G>C	noncoding	Pathogenic
7	117606674	G	A	G117606674A	CFTR	NM_000492.4(CFTR):c.2909G>A:p.Gly970Asp	coding	Pathogenic
7	117606701	A	T	A117606701T	CFTR	NM_000492.3(CFTR):c.2936A>T:p.Asp979Val	coding	Pathogenic
7	117606742	G	T	G117606742T	CFTR	NM_000492.3(CFTR):c.2977G>T:p.Asp993Tyr	coding	Pathogenic
7	117606753	G	A	G117606753A	CFTR	NM_000492.3(CFTR):c.2988G>A:p.Gln996=	coding	Pathogenic
7	117606754	G	A	G117606754A	CFTR	NM_000492.3(CFTR):c.2988+1G>A	coding	Pathogenic
7	117606755	T	C	T117606755C	CFTR	NM_000492.4(CFTR):c.2988+2T>C	noncoding	Pathogenic
7	117610517	A	G	A117610517G	CFTR	NM_000492.3(CFTR):c.2989-2A>G	noncoding	Pathogenic
7	117610518	G	A	G117610518A	CFTR	NM_000492.4(CFTR):c.2989-1G>A	noncoding	Pathogenic
7	117610547	C	A	C117610547A	CFTR	NM_000492.3(CFTR):c.3017C>A:p.Ala1006Glu	coding	Pathogenic
7	117610562	T	G	T117610562G	CFTR	NM_000492.4(CFTR):c.3032T>G:p.Leu1011Ter	coding	Pathogenic
7	117610610	T	C	T117610610C	CFTR	NM_000492.3(CFTR):c.3080T>C:p.Ile1027Thr	coding	Benign/Likely_benign
7	117610625	A	G	A117610625G	CFTR	NM_000492.3(CFTR):c.3095A>G:p.Tyr1032Cys	coding	Pathogenic/Likely_pathogenic
7	117610637	C	A	C117610637A	CFTR	NM_000492.3(CFTR):c.3107C>A:p.Thr1036Asn	coding	Pathogenic
7	117610640	C	A	C117610640A	CFTR	NM_000492.4(CFTR):c.3110C>A:p.Ser1037Ter	coding	Pathogenic
7	117610654	C	T	C117610654T	CFTR	NM_000492.3(CFTR):c.3124C>T:p.Gln1042Ter	coding	Pathogenic
7	117610670	G	A	G117610670A	CFTR	NM_000492.3(CFTR):c.3139+1G>A	coding	Pathogenic
7	117610687	C	T	C117610687T	CFTR	NM_000492.3(CFTR):c.3139+18C>T	noncoding	Benign
7	117610711	A	T	A117610711T	CFTR	NM_000492.3(CFTR):c.3139+42A>T	noncoding	Benign
7	117611489	T	C	T117611489C	CFTR	NM_000492.4(CFTR):c.3140-92T>C	noncoding	Benign
7	117611555	A	G	A117611555G	CFTR	NM_000492.4(CFTR):c.3140-26A>G	noncoding	Pathogenic
7	117611601	C	G	C117611601G	CFTR	NM_000492.4(CFTR):c.3160C>G:p.His1054Asp	coding	Pathogenic
7	117611622	G	C	G117611622C	CFTR	NM_000492.3(CFTR):c.3181G>C:p.Gly1061Arg	coding	Pathogenic
7	117611629	G	A	G117611629A	CFTR	NM_000492.4(CFTR):c.3188G>A:p.Trp1063Ter	coding	Pathogenic
7	117611630	G	A	G117611630A	CFTR	NM_000492.3(CFTR):c.3189G>A:p.Trp1063Ter	coding	Pathogenic
7	117611635	T	C	T117611635C	CFTR	NM_000492.3(CFTR):c.3194T>C:p.Leu1065Pro	coding	Pathogenic
7	117611637	C	T	C117611637T	CFTR	NM_000492.4(CFTR):c.3196C>T:p.Arg1066Cys	coding	Pathogenic
7	117611638	G	A	G117611638A	CFTR	NM_000492.4(CFTR):c.3197G>A:p.Arg1066His	coding	Pathogenic
7	117611638	G	T	G117611638T	CFTR	NM_000492.3(CFTR):c.3197G>T:p.Arg1066Leu	coding	Pathogenic
7	117611652	C	T	C117611652T	CFTR	NM_000492.3(CFTR):c.3211C>T:p.Gln1071Ter	coding	Pathogenic
7	117611653	A	C	A117611653C	CFTR	NM_000492.3(CFTR):c.3212A>C:p.Gln1071Pro	coding	Pathogenic
7	117611671	T	C	T117611671C	CFTR	NM_000492.4(CFTR):c.3230T>C:p.Leu1077Pro	coding	Pathogenic
7	117611695	A	G	A117611695G	CFTR	NM_000492.3(CFTR):c.3254A>G:p.His1085Arg	coding	Pathogenic/Likely_pathogenic
7	117611707	G	A	G117611707A	CFTR	NM_000492.4(CFTR):c.3266G>A:p.Trp1089Ter	coding	Pathogenic
7	117611717	C	A	C117611717A	CFTR	NM_000492.4(CFTR):c.3276C>A:p.Tyr1092Ter	coding	Pathogenic
7	117611717	C	G	C117611717G	CFTR	NM_000492.3(CFTR):c.3276C>G:p.Tyr1092Ter	coding	Pathogenic
7	117611733	T	C	T117611733C	CFTR	NM_000492.3(CFTR):c.3292T>C:p.Trp1098Arg	coding	Pathogenic
7	117611734	G	A	G117611734A	CFTR	NM_000492.3(CFTR):c.3293G>A:p.Trp1098Ter	coding	Pathogenic
7	117611735	G	A	G117611735A	CFTR	NM_000492.3(CFTR):c.3294G>A:p.Trp1098Ter	coding	Pathogenic
7	117611735	G	C	G117611735C	CFTR	NM_000492.3(CFTR):c.3294G>C:p.Trp1098Cys	coding	Pathogenic
7	117611735	G	T	G117611735T	CFTR	NM_000492.4(CFTR):c.3294G>T:p.Trp1098Cys	coding	Pathogenic
7	117611740	A	C	A117611740C	CFTR	NM_000492.4(CFTR):c.3299A>C:p.Gln1100Pro	coding	Pathogenic/Likely_pathogenic
7	117611743	T	A	T117611743A	CFTR	NM_000492.4(CFTR):c.3302T>A:p.Met1101Lys	coding	Pathogenic
7	117611743	T	G	T117611743G	CFTR	NM_000492.3(CFTR):c.3302T>G:p.Met1101Arg	coding	Pathogenic
7	117611745	A	T	A117611745T	CFTR	NM_000492.3(CFTR):c.3304A>T:p.Arg1102Ter	coding	Pathogenic
7	117611751	G	T	G117611751T	CFTR	NM_000492.3(CFTR):c.3310G>T:p.Glu1104Ter	coding	Pathogenic
7	117611794	C	T	C117611794T	CFTR	NM_000492.3(CFTR):c.3353C>T:p.Ser1118Phe	coding	Pathogenic
7	117611809	G	A	G117611809A	CFTR	NM_000492.4(CFTR):c.3367+1G>A	coding	Pathogenic
7	117611810	T	A	T117611810A	CFTR	NM_000492.4(CFTR):c.3367+2T>A	noncoding	Pathogenic
7	117611845	G	A	G117611845A	CFTR	NM_000492.3(CFTR):c.3367+37G>A	noncoding	Benign/Likely_benign
7	117614473	A	C	A117614473C	CFTR	NM_000492.4(CFTR):c.3368-140A>C	noncoding	Benign
7	117614611	A	G	A117614611G	CFTR	NM_000492.4(CFTR):c.3368-2A>G	noncoding	Pathogenic
7	117614611	A	T	A117614611T	CFTR	NM_000492.3(CFTR):c.3368-2A>T	noncoding	Pathogenic/Likely_pathogenic
7	117614649	T	A	T117614649A	CFTR	NM_000492.4(CFTR):c.3404T>A:p.Leu1135Ter	coding	Pathogenic
7	117614680	G	A	G117614680A	CFTR	NM_000492.3(CFTR):c.3435G>A:p.Trp1145Ter	coding	Pathogenic
7	117614706	A	G	A117614706G	CFTR	NM_000492.3(CFTR):c.3461A>G:p.Asp1154Gly	coding	Pathogenic
7	117614713	G	A	G117614713A	CFTR	NM_000492.4(CFTR):c.3468G>A:p.Leu1156=	coding	Pathogenic
7	117614715	T	C	T117614715C	CFTR	NM_000492.4(CFTR):c.3468+2T>C	noncoding	Pathogenic
7	117614718	G	A	G117614718A	CFTR	NM_000492.3(CFTR):c.3468+5G>A	noncoding	Pathogenic
7	117616822	T	C	T117616822C	CFTR	NM_000492.3(CFTR):c.3468+2109T>C	noncoding	Benign
7	117627457	C	A	C117627457A	CFTR	NM_000492.4(CFTR):c.3469-65C>A	noncoding	Benign
7	117627520	A	G	A117627520G	CFTR	NM_000492.3(CFTR):c.3469-2A>G	noncoding	Pathogenic
7	117627525	C	T	C117627525T	CFTR	NM_000492.4(CFTR):c.3472C>T:p.Arg1158Ter	coding	Pathogenic
7	117627528	T	C	T117627528C	CFTR	NM_000492.3(CFTR):c.3475T>C:p.Ser1159Pro	coding	Pathogenic
7	117627529	C	T	C117627529T	CFTR	NM_000492.3(CFTR):c.3476C>T:p.Ser1159Phe	coding	Pathogenic
7	117627537	C	T	C117627537T	CFTR	NM_000492.4(CFTR):c.3484C>T:p.Arg1162Ter	coding	Pathogenic
7	117627640	C	G	C117627640G	CFTR	NM_000492.3(CFTR):c.3587C>G:p.Ser1196Ter	coding	Pathogenic
7	117627664	G	A	G117627664A	CFTR	NM_000492.3(CFTR):c.3611G>A:p.Trp1204Ter	coding	Pathogenic
7	117627665	G	A	G117627665A	CFTR	NM_000492.3(CFTR):c.3612G>A:p.Trp1204Ter	coding	Pathogenic
7	117627670	C	A	C117627670A	CFTR	NM_000492.3(CFTR):c.3617C>A:p.Ser1206Ter	coding	Pathogenic
7	117627670	C	G	C117627670G	CFTR	NM_000492.3(CFTR):c.3617C>G:p.Ser1206Ter	coding	Pathogenic/Likely_pathogenic
7	117627753	A	G	A117627753G	CFTR	NM_000492.4(CFTR):c.3700A>G:p.Ile1234Val	coding	Pathogenic
7	117627765	C	T	C117627765T	CFTR	NM_000492.3(CFTR):c.3712C>T:p.Gln1238Ter	coding	Pathogenic/Likely_pathogenic
7	117627770	G	A	G117627770A	CFTR	NM_000492.4(CFTR):c.3717G>A:p.Arg1239=	coding	Pathogenic
7	117627771	G	A	G117627771A	CFTR	NM_000492.3(CFTR):c.3717+1G>A	coding	Pathogenic
7	117627774	A	G	A117627774G	CFTR	NM_000492.3(CFTR):c.3717+4A>G	noncoding	Pathogenic
7	117627775	G	A	G117627775A	CFTR	NM_000492.3(CFTR):c.3717+5G>A	noncoding	Pathogenic
7	117627810	A	G	A117627810G	CFTR	NM_000492.3(CFTR):c.3717+40A>G	noncoding	Pathogenic
7	117627815	G	A	G117627815A	CFTR	NM_000492.3(CFTR):c.3717+45G>A	noncoding	Benign/Likely_benign
7	117639908	A	G	A117639908G	CFTR	NM_000492.3(CFTR):c.3718-2530A>G	noncoding	Benign
7	117639961	C	T	C117639961T	CFTR	NM_000492.3(CFTR):c.3718-2477C>T	noncoding	Pathogenic
7	117642435	T	G	T117642435G	CFTR	NM_000492.3(CFTR):c.3718-3T>G	noncoding	Pathogenic
7	117642437	G	A	G117642437A	CFTR	NM_000492.3(CFTR):c.3718-1G>A	noncoding	Pathogenic
7	117642439	T	G	T117642439G	CFTR	NM_000492.3(CFTR):c.3719T>G:p.Val1240Gly	coding	Pathogenic
7	117642448	T	A	T117642448A	CFTR	NM_000492.4(CFTR):c.3728T>A:p.Leu1243Ter	coding	Pathogenic
7	117642465	G	A	G117642465A	CFTR	NM_000492.3(CFTR):c.3745G>A:p.Gly1249Arg	coding	Pathogenic
7	117642465	G	C	G117642465C	CFTR	NM_000492.4(CFTR):c.3745G>C:p.Gly1249Arg	coding	Pathogenic
7	117642481	T	G	T117642481G	CFTR	NM_000492.3(CFTR):c.3761T>G:p.Leu1254Ter	coding	Pathogenic
7	117642484	C	A	C117642484A	CFTR	NM_000492.4(CFTR):c.3764C>A:p.Ser1255Ter	coding	Pathogenic
7	117642491	T	G	T117642491G	CFTR	NM_000492.3(CFTR):c.3771T>G:p.Phe1257Leu	coding	Benign/Likely_benign
7	117642526	T	A	T117642526A	CFTR	NM_000492.3(CFTR):c.3806T>A:p.Ile1269Asn	coding	Pathogenic
7	117642542	G	A	G117642542A	CFTR	NM_000492.3(CFTR):c.3822G>A:p.Trp1274Ter	coding	Pathogenic
7	117642558	C	T	C117642558T	CFTR	NM_000492.4(CFTR):c.3838C>T:p.Gln1280Ter	coding	Pathogenic
7	117642561	C	T	C117642561T	CFTR	NM_000492.4(CFTR):c.3841C>T:p.Gln1281Ter	coding	Pathogenic/Likely_pathogenic
7	117642564	T	G	T117642564G	CFTR	NM_000492.4(CFTR):c.3844T>G:p.Trp1282Gly	coding	Pathogenic
7	117642566	G	A	G117642566A	CFTR	NM_000492.4(CFTR):c.3846G>A:p.Trp1282Ter	coding	Pathogenic
7	117642568	G	T	G117642568T	CFTR	NM_000492.3(CFTR):c.3848G>T:p.Arg1283Met	coding	Pathogenic
7	117642577	T	C	T117642577C	CFTR	NM_000492.3(CFTR):c.3857T>C:p.Phe1286Ser	coding	Pathogenic
7	117642579	G	T	G117642579T	CFTR	NM_000492.4(CFTR):c.3859G>T:p.Gly1287Ter	coding	Pathogenic
7	117642590	A	G	A117642590G	CFTR	NM_000492.4(CFTR):c.3870A>G:p.Pro1290=	coding	Benign
7	117642594	G	A	G117642594A	CFTR	NM_000492.4(CFTR):c.3873+1G>A	coding	Pathogenic
7	117642595	T	C	T117642595C	CFTR	NM_000492.3(CFTR):c.3873+2T>C	noncoding	Pathogenic
7	117652642	G	A	G117652642A	CFTR	NM_000492.4(CFTR):c.3874-200G>A	noncoding	Benign
7	117652737	T	G	T117652737G	CFTR	NM_000492.4(CFTR):c.3874-105T>G	noncoding	Benign
7	117652841	G	A	G117652841A	CFTR	NM_000492.4(CFTR):c.3874-1G>A	noncoding	Pathogenic
7	117652875	A	C	A117652875C	CFTR	NM_000492.3(CFTR):c.3907A>C:p.Asn1303His	coding	Pathogenic
7	117652876	A	T	A117652876T	CFTR	NM_000492.3(CFTR):c.3908A>T:p.Asn1303Ile	coding	Pathogenic/Likely_pathogenic
7	117652877	C	G	C117652877G	CFTR	NM_000492.4(CFTR):c.3909C>G:p.Asn1303Lys	coding	Pathogenic
7	117652886	C	G	C117652886G	CFTR	NM_000492.4(CFTR):c.3918C>G:p.Pro1306=	coding	Benign
7	117652893	C	T	C117652893T	CFTR	NM_000492.4(CFTR):c.3925C>T:p.Gln1309Ter	coding	Pathogenic
7	117652905	C	T	C117652905T	CFTR	NM_000492.3(CFTR):c.3937C>T:p.Gln1313Ter	coding	Pathogenic
7	117652915	G	A	G117652915A	CFTR	NM_000492.3(CFTR):c.3947G>A:p.Trp1316Ter	coding	Pathogenic
7	117652932	G	A	G117652932A	CFTR	NM_000492.3(CFTR):c.3963+1G>A	coding	Pathogenic
7	117652933	T	A	T117652933A	CFTR	NM_000492.3(CFTR):c.3963+2T>A	noncoding	Pathogenic
7	117653000	A	G	A117653000G	CFTR	NM_000492.4(CFTR):c.3963+69A>G	noncoding	Benign
7	117664405	T	C	T117664405C	CFTR	NM_000492.4(CFTR):c.3964-283T>C	noncoding	Benign
7	117664685	C	G	C117664685G	CFTR	NM_000492.3(CFTR):c.3964-3C>G	noncoding	Pathogenic
7	117664695	T	C	T117664695C	CFTR	NM_000492.3(CFTR):c.3971T>C:p.Leu1324Pro	coding	Pathogenic
7	117664712	C	T	C117664712T	CFTR	NM_000492.3(CFTR):c.3988C>T:p.Gln1330Ter	coding	Pathogenic
7	117664728	T	C	T117664728C	CFTR	NM_000492.3(CFTR):c.4004T>C:p.Leu1335Pro	coding	Pathogenic
7	117664775	A	T	A117664775T	CFTR	NM_000492.4(CFTR):c.4051A>T:p.Lys1351Ter	coding	Pathogenic
7	117664835	G	T	G117664835T	CFTR	NM_000492.3(CFTR):c.4111G>T:p.Glu1371Ter	coding	Pathogenic
7	117664848	A	C	A117664848C	CFTR	NM_000492.4(CFTR):c.4124A>C:p.His1375Pro	coding	Pathogenic
7	117664861	G	A	G117664861A	CFTR	NM_000492.4(CFTR):c.4136+1G>A	coding	Pathogenic
7	117665320	G	A	G117665320A	CFTR	NM_000492.4(CFTR):c.4137-139G>A	noncoding	Benign
7	117665466	C	T	C117665466T	CFTR	NM_000492.3(CFTR):c.4144C>T:p.Gln1382Ter	coding	Pathogenic
7	117665490	C	T	C117665490T	CFTR	NM_000492.3(CFTR):c.4168C>T:p.Gln1390Ter	coding	Pathogenic
7	117665547	G	T	G117665547T	CFTR	NM_000492.4(CFTR):c.4225G>T:p.Glu1409Ter	coding	Pathogenic
7	117665553	C	T	C117665553T	CFTR	NM_000492.3(CFTR):c.4231C>T:p.Gln1411Ter	coding	Pathogenic
7	117665556	C	T	C117665556T	CFTR	NM_000492.3(CFTR):c.4234C>T:p.Gln1412Ter	coding	Pathogenic
7	117665565	G	A	G117665565A	CFTR	NM_000492.3(CFTR):c.4242+1G>A	coding	Pathogenic
7	117665565	G	T	G117665565T	CFTR	NM_000492.4(CFTR):c.4242+1G>T	coding	Pathogenic
7	117665577	A	G	A117665577G	CFTR	NM_000492.4(CFTR):c.4242+13A>G	noncoding	Benign/Likely_benign
7	117666903	C	T	C117666903T	CFTR	NM_000492.3(CFTR):c.4243-5C>T	noncoding	Benign/Likely_benign
7	117666906	A	G	A117666906G	CFTR	NM_000492.3(CFTR):c.4243-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	117666937	C	A	C117666937A	CFTR	NM_000492.3(CFTR):c.4272C>A:p.Tyr1424Ter	coding	Pathogenic/Likely_pathogenic
7	117667029	C	G	C117667029G	CFTR	NM_000492.3(CFTR):c.4364C>G:p.Ser1455Ter	coding	Pathogenic/Likely_pathogenic
7	117667054	G	A	G117667054A	CFTR	NM_000492.4(CFTR):c.4389G>A:p.Gln1463=	coding	Benign/Likely_benign
7	117667091	C	T	C117667091T	CFTR	NM_000492.3(CFTR):c.4426C>T:p.Gln1476Ter	coding	Pathogenic/Likely_pathogenic
7	117667433	A	G	A117667433G	CFTR	NM_000492.3(CFTR):c.*325A>G	noncoding	Benign
7	117668151	A	C	A117668151C	CFTR	NM_000492.3(CFTR):c.*1043A>C	noncoding	Benign/Likely_benign
7	117668359	C	T	C117668359T	CFTR	NM_000492.3(CFTR):c.*1251C>T	noncoding	Benign
7	117711674	T	G	T117711674G	CTTNBP2	NM_033427.3(CTTNBP2):c.4855A>C:p.Lys1619Gln	coding	Benign
7	117861215	G	A	G117861215A	CTTNBP2	NM_033427.3(CTTNBP2):c.183C>T:p.Ala61=	coding	Benign
7	118188313	G	A	G118188313A	LSM8	NM_016200.5(LSM8):c.108G>A:p.Leu36=	coding	Benign
7	120275088	G	A	G120275088A	KCND2	NM_012281.3(KCND2):c.456G>A:p.Ala152=	coding	Benign
7	120275302	C	A	C120275302A	KCND2	NM_012281.3(KCND2):c.670C>A:p.Arg224=	coding	Benign
7	120275340	C	T	C120275340T	KCND2	NM_012281.3(KCND2):c.708C>T:p.Cys236=	coding	Benign
7	120275433	G	A	G120275433A	KCND2	NM_012281.3(KCND2):c.801G>A:p.Val267=	coding	Benign
7	120745785	C	T	C120745785T	KCND2	NM_012281.3(KCND2):c.1473C>T:p.His491=	coding	Benign
7	120787322	A	C	A120787322C	TSPAN12	NM_012338.4(TSPAN12):c.*1270T>G	noncoding	Benign
7	120787349	T	A	T120787349A	TSPAN12	NM_012338.4(TSPAN12):c.*1243A>T	noncoding	Benign
7	120787453	T	A	T120787453A	TSPAN12	NM_012338.4(TSPAN12):c.*1139A>T	noncoding	Benign
7	120787594	C	T	C120787594T	TSPAN12	NM_012338.4(TSPAN12):c.*998G>A	noncoding	Benign
7	120788258	T	A	T120788258A	TSPAN12	NM_012338.4(TSPAN12):c.*334A>T	noncoding	Benign
7	120788553	G	A	G120788553A	TSPAN12	NM_012338.4(TSPAN12):c.*39C>T	noncoding	Benign
7	120788642	T	C	T120788642C	TSPAN12	NM_012338.4(TSPAN12):c.868A>G:p.Thr290Ala	coding	Benign
7	120788745	C	A	C120788745A	TSPAN12	NM_012338.4(TSPAN12):c.765G>T:p.Pro255=	coding	Benign
7	120788776	A	G	A120788776G	TSPAN12	NM_012338.4(TSPAN12):c.734T>C:p.Leu245Pro	coding	Pathogenic
7	120788801	C	G	C120788801G	TSPAN12	NM_012338.4(TSPAN12):c.709G>C:p.Ala237Pro	coding	Pathogenic
7	120806599	C	G	C120806599G	TSPAN12	NM_012338.4(TSPAN12):c.562G>C:p.Gly188Arg	coding	Pathogenic
7	120806619	C	A	C120806619A	TSPAN12	NM_012338.4(TSPAN12):c.542G>T:p.Cys181Phe	coding	Pathogenic
7	120806677	C	T	C120806677T	TSPAN12	NM_012338.4(TSPAN12):c.484G>A:p.Val162Ile	coding	Benign
7	120810512	A	T	A120810512T	TSPAN12	NM_012338.4(TSPAN12):c.419T>A:p.Leu140Ter	coding	Pathogenic
7	120810518	T	C	T120810518C	TSPAN12	NM_012338.4(TSPAN12):c.413A>G:p.Tyr138Cys	coding	Pathogenic
7	120810564	C	G	C120810564G	TSPAN12	NM_012338.4(TSPAN12):c.367G>C:p.Val123Leu	coding	Benign
7	120815720	T	C	T120815720C	TSPAN12	NM_012338.4(TSPAN12):c.360+9A>G	noncoding	Benign
7	120838776	C	T	C120838776T	TSPAN12	NM_012338.4(TSPAN12):c.285+1G>A	noncoding	Pathogenic
7	120840030	G	A	G120840030A	TSPAN12	NM_012338.4(TSPAN12):c.146C>T:p.Thr49Met	coding	Pathogenic
7	120840110	C	G	C120840110G	TSPAN12	NM_012338.4(TSPAN12):c.67-1G>C	coding	Pathogenic
7	120856806	C	T	C120856806T	TSPAN12	NM_012338.4(TSPAN12):c.-43G>A	noncoding	Benign
7	120857876	C	A	C120857876A	TSPAN12	NM_012338.4(TSPAN12):c.-127G>T	noncoding	Benign
7	120858026	G	A	G120858026A	TSPAN12	NM_012338.4(TSPAN12):c.-277C>T	noncoding	Benign
7	120951195	C	T	C120951195T	ING3	NM_019071.3(ING3):c.60C>T:p.Asp20=	coding	Benign
7	120967539	T	C	T120967539C	ING3	NM_019071.3(ING3):c.447T>C:p.Tyr149=	coding	Benign
7	121015835	G	A	G121015835A	CPED1	NM_024913.5(CPED1):c.420G>A:p.Gly140=	coding	Benign
7	121100055	A	G	A121100055G	CPED1	NM_024913.5(CPED1):c.879A>G:p.Thr293=	coding	Benign
7	121142024	T	A	T121142024A	CPED1	NM_024913.5(CPED1):c.1938T>A:p.Val646=	coding	Benign
7	121267212	C	A	C121267212A	CPED1	NM_024913.5(CPED1):c.2634-3C>A	noncoding	Benign
7	121271408	A	C	A121271408C	CPED1	NM_024913.5(CPED1):c.2846A>C:p.Lys949Thr	coding	Benign
7	121329771	C	A	C121329771A	WNT16	NM_057168.2(WNT16):c.300C>A:p.Thr100=	coding	Benign
7	121339025	T	C	T121339025C	WNT16	NM_057168.2(WNT16):c.778T>C:p.Ser260Pro	coding	Benign
7	121984068	T	C	T121984068C	PTPRZ1	NM_002851.3(PTPRZ1):c.879T>C:p.Ser293=	coding	Benign
7	122011167	T	C	T122011167C	PTPRZ1	NM_002851.3(PTPRZ1):c.2121T>C:p.Asp707=	coding	Benign
7	122012116	G	C	G122012116C	PTPRZ1	NM_002851.3(PTPRZ1):c.3070G>C:p.Val1024Leu	coding	Benign
7	122012284	A	C	A122012284C	PTPRZ1	NM_002851.3(PTPRZ1):c.3238A>C:p.Lys1080Gln	coding	Benign
7	122012544	G	A	G122012544A	PTPRZ1	NM_002851.3(PTPRZ1):c.3498G>A:p.Gln1166=	coding	Benign
7	122012910	T	C	T122012910C	PTPRZ1	NM_002851.3(PTPRZ1):c.3864T>C:p.Ser1288=	coding	Benign
7	122031470	G	A	G122031470A	PTPRZ1	NM_002851.3(PTPRZ1):c.5081-4G>A	noncoding	Benign
7	122076556	C	T	C122076556T	AASS	NM_005763.4(AASS):c.2714G>A:p.Gly905Glu	coding	Benign
7	122078888	T	C	T122078888C	AASS	NM_005763.4(AASS):c.2459A>G:p.Lys820Arg	coding	Benign
7	122091794	G	C	G122091794C	AASS	NM_005763.4(AASS):c.1925C>G:p.Ser642Ter	coding	Pathogenic
7	122101666	C	T	C122101666T	AASS	NM_005763.4(AASS):c.1293G>A:p.Ala431=	coding	Benign
7	122113140	A	C	A122113140C	AASS	NM_005763.4(AASS):c.1256T>G:p.Leu419Arg	coding	Pathogenic
7	122113657	A	G	A122113657G	AASS	NM_005763.4(AASS):c.1107T>C:p.Cys369=	coding	Benign
7	122116653	T	C	T122116653C	AASS	NM_005763.4(AASS):c.874A>G:p.Ile292Val	coding	Pathogenic
7	122133533	C	T	C122133533T	AASS	NM_005763.4(AASS):c.194G>A:p.Arg65Gln	coding	Pathogenic
7	122302075	C	T	C122302075T	FEZF1	NM_001024613.4(FEZF1):c.1350G>A:p.Pro450=	coding	Benign
7	122302261	G	A	G122302261A	FEZF1	NM_001024613.4(FEZF1):c.1164C>T:p.Thr388=	coding	Benign
7	122302866	A	G	A122302866G	FEZF1	NM_001024613.4(FEZF1):c.1002T>C:p.His334=	coding	Benign
7	122302941	A	C	A122302941C	FEZF1	NM_001024613.4(FEZF1):c.937-10T>G	noncoding	Benign
7	122303281	G	A	G122303281A	FEZF1	NM_001024613.4(FEZF1):c.832C>T:p.His278Tyr	coding	Pathogenic
7	122304153	C	G	C122304153G	FEZF1	NM_001024613.4(FEZF1):c.285G>C:p.Pro95=	coding	Benign
7	122304185	T	C	T122304185C	FEZF1	NM_001024613.4(FEZF1):c.253A>G:p.Ser85Gly	coding	Benign
7	122388719	C	T	C122388719T	CADPS2	NM_017954.11(CADPS2):c.3028G>A:p.Glu1010Lys	coding	Benign
7	122416159	T	C	T122416159C	CADPS2	NM_017954.11(CADPS2):c.2482A>G:p.Met828Val	coding	Benign
7	122438420	C	G	C122438420G	CADPS2	NM_017954.11(CADPS2):c.2397G>C:p.Val799=	coding	Benign
7	122471383	G	A	G122471383A	CADPS2	NM_017954.11(CADPS2):c.2178C>T:p.His726=	coding	Benign
7	122621571	T	C	T122621571C	CADPS2	NM_017954.11(CADPS2):c.1014A>G:p.Lys338=	coding	Benign
7	122621693	C	T	C122621693T	CADPS2	NM_017954.11(CADPS2):c.892G>A:p.Ala298Thr	coding	Benign
7	122663396	G	A	G122663396A	CADPS2	NM_017954.11(CADPS2):c.627C>T:p.Ala209=	coding	Benign
7	123134504	T	C	T123134504C	SLC13A1	NM_022444.4(SLC13A1):c.838A>G:p.Asn280Asp	coding	Benign
7	123147252	G	A	G123147252A	SLC13A1	NM_022444.4(SLC13A1):c.719C>T:p.Thr240Met	coding	Benign
7	123168420	T	C	T123168420C	SLC13A1	NM_022444.4(SLC13A1):c.614A>G:p.Tyr205Cys	coding	Benign
7	123171856	T	G	T123171856G	SLC13A1	NM_022444.4(SLC13A1):c.277A>C:p.Ile93Leu	coding	Benign
7	123502681	T	C	T123502681C	IQUB	NM_178827.5(IQUB):c.939A>G:p.Val313=	coding	Benign
7	124746639	T	G	T124746639G	GPR37	NM_005302.5(GPR37):c.1728A>C:p.Ser576=	coding	Benign
7	124747086	T	C	T124747086C	GPR37	NM_005302.5(GPR37):c.1281A>G:p.Leu427=	coding	Benign
7	124764155	G	A	G124764155A	GPR37	NM_005302.5(GPR37):c.822C>T:p.Thr274=	coding	Benign
7	124764254	C	A	C124764254A	GPR37	NM_005302.5(GPR37):c.723G>T:p.Thr241=	coding	Benign
7	124764294	C	A	C124764294A	GPR37	NM_005302.5(GPR37):c.683G>T:p.Gly228Val	coding	Benign
7	124764737	A	G	A124764737G	GPR37	NM_005302.5(GPR37):c.240T>C:p.Phe80=	coding	Benign
7	124823983	T	G	T124823983G	POT1	NM_015450.3(POT1):c.1884A>C:p.Thr628=	coding	Benign
7	124825043	A	T	A124825043T	POT1	NM_015450.3(POT1):c.1792+209T>A	noncoding	Benign
7	124825362	A	T	A124825362T	POT1	NM_015450.3(POT1):c.1687-5T>A	noncoding	Benign/Likely_benign
7	124825455	A	C	A124825455C	POT1	NM_015450.3(POT1):c.1687-98T>G	noncoding	Benign
7	124827416	T	C	T124827416C	POT1	NM_015450.3(POT1):c.1595-111A>G	noncoding	Benign
7	124829213	A	T	A124829213T	POT1	NM_015450.3(POT1):c.1594+41T>A	noncoding	Benign
7	124829533	G	A	G124829533A	POT1	NM_015450.3(POT1):c.1506-191C>T	noncoding	Benign
7	124840815	T	C	T124840815C	POT1	NM_015450.3(POT1):c.1369+158A>G	noncoding	Benign
7	124841114	C	G	C124841114G	POT1	NM_015450.3(POT1):c.1228G>C:p.Asp410His	coding	Benign/Likely_benign
7	124841115	T	G	T124841115G	POT1	NM_015450.3(POT1):c.1227A>C:p.Pro409=	coding	Benign/Likely_benign
7	124841131	C	A	C124841131A	POT1	NM_015450.3(POT1):c.1211G>T:p.Gly404Val	coding	Benign
7	124841191	G	A	G124841191A	POT1	NM_015450.3(POT1):c.1164-13C>T	noncoding	Benign
7	124841349	T	A	T124841349A	POT1	NM_015450.3(POT1):c.1164-171A>T	noncoding	Benign
7	124841366	T	A	T124841366A	POT1	NM_015450.3(POT1):c.1164-188A>T	noncoding	Benign
7	124842893	T	C	T124842893C	POT1	NM_015450.3(POT1):c.1077A>G:p.Gln359=	coding	Benign/Likely_benign
7	124842948	T	C	T124842948C	POT1	NM_015450.3(POT1):c.1022A>G:p.Gln341Arg	coding	Benign/Likely_benign
7	124843168	T	C	T124843168C	POT1	NM_015450.3(POT1):c.1007-205A>G	noncoding	Benign
7	124846926	T	C	T124846926C	POT1	NM_015450.3(POT1):c.1006+16A>G	noncoding	Benign
7	124851897	T	C	T124851897C	POT1	NM_015450.3(POT1):c.924A>G:p.Gln308=	coding	Benign
7	124851918	C	A	C124851918A	POT1	NM_015450.3(POT1):c.903G>T:p.Gln301His	coding	Benign/Likely_benign
7	124851984	T	C	T124851984C	POT1	NM_015450.3(POT1):c.870-33A>G	noncoding	Benign
7	124852995	G	A	G124852995A	POT1	NM_015450.3(POT1):c.846C>T:p.Asn282=	coding	Benign/Likely_benign
7	124853013	C	T	C124853013T	POT1	NM_015450.3(POT1):c.828G>A:p.Arg276=	coding	Benign/Likely_benign
7	124853090	T	C	T124853090C	POT1	NM_015450.3(POT1):c.751A>G:p.Met251Val	coding	Benign/Likely_benign
7	124858948	A	C	A124858948C	POT1	NM_015450.3(POT1):c.702+9T>G	noncoding	Benign
7	124858949	T	A	T124858949A	POT1	NM_015450.3(POT1):c.702+8A>T	noncoding	Benign
7	124859107	C	T	C124859107T	POT1	NM_015450.3(POT1):c.552G>A:p.Trp184Ter	coding	Pathogenic
7	124859334	G	T	G124859334T	POT1	NM_015450.3(POT1):c.547-222C>A	noncoding	Benign
7	124863142	C	T	C124863142T	POT1	NM_015450.3(POT1):c.546+208G>A	noncoding	Benign
7	124896986	T	C	T124896986C	POT1	NM_015450.3(POT1):c.9+179A>G	noncoding	Benign
7	124897422	A	C	A124897422C	POT1	NM_015450.3(POT1):c.-39-210T>G	noncoding	Benign
7	124898099	C	A	C124898099A	POT1	NM_015450.3(POT1):c.-40+162G>T	noncoding	Benign
7	124898561	C	T	C124898561T	POT1	NM_015450.3(POT1):c.-153-187G>A	noncoding	Benign
7	124928656	A	G	A124928656G	POT1	NM_015450.3(POT1):c.-227+159T>C	noncoding	Benign
7	126533165	C	T	C126533165T	GRM8	NM_000845.3(GRM8):c.2217G>A:p.Val739=	coding	Benign
7	126533387	G	A	G126533387A	GRM8	NM_000845.3(GRM8):c.1995C>T:p.Ala665=	coding	Benign
7	126533701	T	G	T126533701G	GRM8	NM_000845.3(GRM8):c.1681A>C:p.Arg561=	coding	Benign
7	126533848	G	C	G126533848C	GRM8	NM_000845.3(GRM8):c.1534C>G:p.Pro512Ala	coding	Benign
7	126533896	A	G	A126533896G	GRM8	NM_000845.3(GRM8):c.1495-9T>C	noncoding	Benign
7	126609392	G	A	G126609392A	GRM8	NM_000845.3(GRM8):c.1464C>T:p.Ile488=	coding	Benign
7	126904617	A	G	A126904617G	GRM8	NM_000845.3(GRM8):c.794T>C:p.Ile265Thr	coding	Benign
7	127106530	A	G	A127106530G	GRM8	NM_000845.3(GRM8):c.693T>C:p.Gly231=	coding	Benign
7	127242848	G	A	G127242848A	GRM8	NM_000845.3(GRM8):c.357C>T:p.Phe119=	coding	Benign
7	127243109	G	C	G127243109C	GRM8	NM_000845.3(GRM8):c.96C>G:p.His32Gln	coding	Benign
7	127243143	A	C	A127243143C	GRM8	NM_000845.3(GRM8):c.62T>G:p.Phe21Cys	coding	Benign
7	127243176	G	C	G127243176C	GRM8	NM_000845.3(GRM8):c.29C>G:p.Ser10Cys	coding	Benign
7	127373521	G	A	G127373521A	ZNF800	NM_176814.5(ZNF800):c.1815C>T:p.Val605=	coding	Benign
7	127374661	A	G	A127374661G	ZNF800	NM_176814.5(ZNF800):c.675T>C:p.Asp225=	coding	Benign
7	127591248	A	C	A127591248C	ARF5	NM_001662.4(ARF5):c.492A>C:p.Thr164=	coding	Benign
7	127610543	G	A	G127610543A	PAX4	NM_001366110.1(PAX4):c.*521C>T	noncoding	Benign
7	127610587	G	A	G127610587A	PAX4	NM_001366110.1(PAX4):c.*477C>T	noncoding	Benign
7	127610853	T	C	T127610853C	PAX4	NM_001366110.1(PAX4):c.*211A>G	noncoding	Benign
7	127611134	T	G	T127611134G	PAX4	NM_001366110.1(PAX4):c.986A>C:p.His329Pro	coding	Benign
7	127611677	C	T	C127611677T	PAX4	NM_001366110.1(PAX4):c.772-1G>A	coding	Pathogenic
7	127613496	C	T	C127613496T	PAX4	NM_001366110.1(PAX4):c.599G>A:p.Arg200His	coding	Benign/Likely_benign
7	127613497	G	T	G127613497T	PAX4	NM_001366110.1(PAX4):c.598C>A:p.Arg200Ser	coding	Benign/Likely_benign
7	127613775	T	C	T127613775C	PAX4	NM_001366110.1(PAX4):c.543A>G:p.Gln181=	coding	Benign/Likely_benign
7	127613804	G	A	G127613804A	PAX4	NM_001366110.1(PAX4):c.514C>T:p.Arg172Trp	coding	Pathogenic
7	127613844	G	A	G127613844A	PAX4	NM_001366110.1(PAX4):c.474C>T:p.Gly158=	coding	Benign/Likely_benign
7	127614497	G	A	G127614497A	PAX4	NM_001366110.1(PAX4):c.421C>T:p.Arg141Trp	coding	Benign/Likely_benign
7	127614533	G	A	G127614533A	PAX4	NM_001366110.1(PAX4):c.385C>T:p.Arg129Trp	coding	Pathogenic
7	127615412	G	A	G127615412A	PAX4	NM_001366110.1(PAX4):c.133C>T:p.Arg45Trp	coding	Benign
7	127615741	C	G	C127615741G	PAX4	NM_001366110.1(PAX4):c.13+175G>C	noncoding	Benign
7	127701159	C	T	C127701159T	SND1	NM_014390.4(SND1):c.429-4C>T	noncoding	Benign
7	127704919	C	T	C127704919T	SND1	NM_014390.4(SND1):c.921C>T:p.Gly307=	coding	Benign
7	127929208	G	A	G127929208A	SND1	NM_014390.4(SND1):c.1548G>A:p.Gln516=	coding	Benign
7	127929253	G	A	G127929253A	SND1	NM_014390.4(SND1):c.1593G>A:p.Val531=	coding	Benign
7	128028955	G	A	G128028955A	LRRC4	NM_022143.5(LRRC4):c.1686C>T:p.Ala562=	coding	Benign
7	128029006	A	G	A128029006G	LRRC4	NM_022143.5(LRRC4):c.1635T>C:p.Ile545=	coding	Benign
7	128074564	C	T	C128074564T	SND1	NM_014390.4(SND1):c.1842C>T:p.Asp614=	coding	Benign
7	128252093	A	G	A128252093G	LEP	NM_000230.3(LEP):c.75A>G:p.Gln25=	coding	Benign
7	128254539	G	A	G128254539A	LEP	NM_000230.3(LEP):c.280G>A:p.Val94Met	coding	Benign/Likely_benign
7	128254557	G	T	G128254557T	LEP	NM_000230.3(LEP):c.298G>T:p.Asp100Tyr	coding	Pathogenic
7	128254568	C	T	C128254568T	LEP	NM_000230.3(LEP):c.309C>T:p.Asn103=	coding	Benign
7	128254572	C	T	C128254572T	LEP	NM_000230.3(LEP):c.313C>T:p.Arg105Trp	coding	Pathogenic
7	128256483	A	G	A128256483G	LEP	NM_000230.3(LEP):c.*1720A>G	noncoding	Benign
7	128257016	C	A	C128257016A	LEP	NM_000230.3(LEP):c.*2253C>A	noncoding	Benign/Likely_benign
7	128257173	G	A	G128257173A	LEP	NM_000230.3(LEP):c.*2410G>A	noncoding	Benign/Likely_benign
7	128310804	T	C	T128310804C	RBM28	NM_018077.3(RBM28):c.2273A>G:p.Asp758Gly	coding	Benign
7	128314794	G	A	G128314794A	RBM28	NM_018077.3(RBM28):c.2015C>T:p.Ala672Val	coding	Benign
7	128317987	G	A	G128317987A	RBM28	NM_018077.3(RBM28):c.1683C>T:p.Asn561=	coding	Benign
7	128318062	C	T	C128318062T	RBM28	NM_018077.3(RBM28):c.1608G>A:p.Lys536=	coding	Benign
7	128330896	A	G	A128330896G	RBM28	NM_018077.3(RBM28):c.1052T>C:p.Leu351Pro	coding	Pathogenic
7	128335938	C	G	C128335938G	RBM28	NM_018077.3(RBM28):c.718G>C:p.Asp240His	coding	Benign
7	128339293	C	T	C128339293T	RBM28	NM_018077.3(RBM28):c.306G>A:p.Pro102=	coding	Benign
7	128343707	C	T	C128343707T	RBM28	NM_018077.3(RBM28):c.87G>A:p.Pro29=	coding	Benign
7	128392373	G	A	G128392373A	IMPDH1	NM_000883.4(IMPDH1):c.*634C>T	noncoding	Benign
7	128392410	C	T	C128392410T	IMPDH1	NM_000883.4(IMPDH1):c.*597G>A	noncoding	Benign
7	128392731	G	A	G128392731A	IMPDH1	NM_000883.4(IMPDH1):c.*276C>T	noncoding	Benign/Likely_benign
7	128392779	C	T	C128392779T	IMPDH1	NM_000883.4(IMPDH1):c.*228G>A	noncoding	Benign/Likely_benign
7	128394575	C	T	C128394575T	IMPDH1	NM_000883.4(IMPDH1):c.1575G>A:p.Ala525=	coding	Benign
7	128394894	G	A	G128394894A	IMPDH1	NM_000883.4(IMPDH1):c.1545C>T:p.Tyr515=	coding	Benign
7	128394903	C	T	C128394903T	IMPDH1	NM_000883.4(IMPDH1):c.1536G>A:p.Gln512=	coding	Benign
7	128395122	T	C	T128395122C	IMPDH1	NM_000883.4(IMPDH1):c.1405+9A>G	noncoding	Benign/Likely_benign
7	128398407	G	A	G128398407A	IMPDH1	NM_000883.4(IMPDH1):c.1074+7C>T	noncoding	Benign/Likely_benign
7	128398408	C	A	C128398408A	IMPDH1	NM_000883.4(IMPDH1):c.1074+6G>T	noncoding	Benign/Likely_benign
7	128398431	C	T	C128398431T	IMPDH1	NM_000883.4(IMPDH1):c.1057G>A:p.Val353Ile	coding	Pathogenic
7	128398501	C	G	C128398501G	IMPDH1	NM_000883.4(IMPDH1):c.987G>C:p.Leu329=	coding	Benign
7	128398504	C	G	C128398504G	IMPDH1	NM_000883.4(IMPDH1):c.984G>C:p.Gln328His	coding	Pathogenic
7	128398520	T	C	T128398520C	IMPDH1	NM_000883.4(IMPDH1):c.968A>G:p.Lys323Arg	coding	Pathogenic
7	128398557	C	T	C128398557T	IMPDH1	NM_000883.4(IMPDH1):c.931G>A:p.Asp311Asn	coding	Pathogenic
7	128398562	C	G	C128398562G	IMPDH1	NM_000883.4(IMPDH1):c.926G>C:p.Arg309Pro	coding	Pathogenic
7	128400120	A	C	A128400120C	IMPDH1	NM_000883.4(IMPDH1):c.849T>G:p.Asn283Lys	coding	Pathogenic
7	128405760	C	G	C128405760G	IMPDH1	NM_000883.4(IMPDH1):c.353+7G>C	noncoding	Benign
7	128405867	T	C	T128405867C	IMPDH1	NM_000883.4(IMPDH1):c.255-2A>G	coding	Pathogenic
7	128409970	A	C	A128409970C	IMPDH1	NM_000883.4(IMPDH1):c.-69T>G	noncoding	Benign
7	128500928	T	C	T128500928C	METTL2B	NM_018396.3(METTL2B):c.942T>C:p.Tyr314=	coding	Benign
7	128715613	C	T	C128715613T	FAM71F1	NM_032599.4(FAM71F1):c.172C>T:p.Leu58=	coding	Benign
7	128773786	G	A	G128773786A	OPN1SW	NM_001708.2(OPN1SW):c.790C>T:p.Pro264Ser	coding	Pathogenic
7	128774545	A	G	A128774545G	OPN1SW	NM_001708.2(OPN1SW):c.640T>C:p.Ser214Pro	coding	Pathogenic
7	128775569	G	T	G128775569T	OPN1SW	NM_001708.2(OPN1SW):c.222C>A:p.Val74=	coding	Benign
7	128775760	G	A	G128775760A	OPN1SW	NM_001708.2(OPN1SW):c.31C>T:p.Leu11=	coding	Benign
7	128801491	G	C	G128801491C	CCDC136	NM_022742.5(CCDC136):c.652G>C:p.Asp218His	coding	Benign
7	128801502	G	C	G128801502C	CCDC136	NM_022742.5(CCDC136):c.663G>C:p.Gly221=	coding	Benign
7	128806733	G	A	G128806733A	CCDC136	NM_022742.5(CCDC136):c.1294G>A:p.Val432Ile	coding	Benign
7	128810186	G	C	G128810186C	CCDC136	NM_022742.5(CCDC136):c.1848G>C:p.Leu616=	coding	Benign
7	128811832	C	T	C128811832T	CCDC136	NM_022742.5(CCDC136):c.2061C>T:p.Ala687=	coding	Benign
7	128814812	G	A	G128814812A	CCDC136	NM_022742.5(CCDC136):c.2938G>A:p.Gly980Arg	coding	Benign
7	128815829	A	G	A128815829G	CCDC136	NM_022742.5(CCDC136):c.3261A>G:p.Glu1087=	coding	Benign
7	128830322	C	T	C128830322T	FLNC	NM_001458.4(FLNC):c.-316C>T	noncoding	Benign
7	128830408	C	A	C128830408A	FLNC	NM_001458.4(FLNC):c.-230C>A	noncoding	Benign
7	128830428	G	A	G128830428A	FLNC	NM_001458.4(FLNC):c.-210G>A	noncoding	Benign
7	128830626	G	T	G128830626T	FLNC	NM_001458.4(FLNC):c.-12G>T	noncoding	Benign/Likely_benign
7	128830784	C	T	C128830784T	FLNC	NM_001458.4(FLNC):c.147C>T:p.His49=	coding	Benign
7	128830999	G	A	G128830999A	FLNC	NM_001458.4(FLNC):c.352+10G>A	noncoding	Benign/Likely_benign
7	128835341	T	C	T128835341C	FLNC	NM_001458.4(FLNC):c.368T>C:p.Val123Ala	coding	Pathogenic
7	128835417	G	A	G128835417A	FLNC	NM_001458.4(FLNC):c.444G>A:p.Trp148Ter	coding	Pathogenic
7	128835527	G	A	G128835527A	FLNC	NM_001458.4(FLNC):c.554G>A:p.Trp185Ter	coding	Pathogenic
7	128835534	C	T	C128835534T	FLNC	NM_001458.4(FLNC):c.561C>T:p.Asp187=	coding	Benign/Likely_benign
7	128835570	C	T	C128835570T	FLNC	NM_001458.4(FLNC):c.597C>T:p.Ala199=	coding	Benign/Likely_benign
7	128835777	A	G	A128835777G	FLNC	NM_001458.4(FLNC):c.601+203A>G	noncoding	Benign
7	128837149	C	T	C128837149T	FLNC	NM_001458.4(FLNC):c.602-11C>T	noncoding	Benign
7	128837255	C	T	C128837255T	FLNC	NM_001458.4(FLNC):c.697C>T:p.Gln233Ter	coding	Pathogenic
7	128837266	G	A	G128837266A	FLNC	NM_001458.4(FLNC):c.699+9G>A	noncoding	Benign
7	128837418	T	C	T128837418C	FLNC	NM_001458.4(FLNC):c.720T>C:p.Ile240=	coding	Benign
7	128837430	C	T	C128837430T	FLNC	NM_001458.4(FLNC):c.732C>T:p.Asn244=	coding	Benign
7	128837450	T	C	T128837450C	FLNC	NM_001458.4(FLNC):c.752T>C:p.Met251Thr	coding	Pathogenic
7	128837493	T	C	T128837493C	FLNC	NM_001458.4(FLNC):c.795T>C:p.Gly265=	coding	Benign
7	128837503	C	T	C128837503T	FLNC	NM_001458.4(FLNC):c.805C>T:p.Arg269Ter	coding	Pathogenic
7	128837566	G	A	G128837566A	FLNC	NM_001458.4(FLNC):c.850+18G>A	noncoding	Benign
7	128837630	C	A	C128837630A	FLNC	NM_001458.4(FLNC):c.851-7C>A	noncoding	Benign
7	128837750	G	T	G128837750T	FLNC	NM_001458.4(FLNC):c.964G>T:p.Glu322Ter	coding	Pathogenic
7	128837811	G	A	G128837811A	FLNC	NM_001458.4(FLNC):c.969+56G>A	noncoding	Benign
7	128838044	A	T	A128838044T	FLNC	NM_001458.4(FLNC):c.1027A>T:p.Lys343Ter	coding	Pathogenic
7	128838049	C	T	C128838049T	FLNC	NM_001458.4(FLNC):c.1032C>T:p.Val344=	coding	Benign
7	128838766	C	T	C128838766T	FLNC	NM_001458.4(FLNC):c.1374C>T:p.Pro458=	coding	Benign
7	128839864	G	A	G128839864A	FLNC	NM_001458.4(FLNC):c.1412-159G>A	noncoding	Benign
7	128839928	C	G	C128839928G	FLNC	NM_001458.4(FLNC):c.1412-95C>G	noncoding	Benign
7	128840036	C	T	C128840036T	FLNC	NM_001458.4(FLNC):c.1425C>T:p.Asn475=	coding	Benign
7	128840069	C	A	C128840069A	FLNC	NM_001458.4(FLNC):c.1458C>A:p.Pro486=	coding	Benign
7	128840129	C	T	C128840129T	FLNC	NM_001458.4(FLNC):c.1518C>T:p.Ser506=	coding	Benign
7	128840175	C	A	C128840175A	FLNC	NM_001458.4(FLNC):c.1549+15C>A	noncoding	Benign
7	128840575	G	A	G128840575A	FLNC	NM_001458.4(FLNC):c.1577G>A:p.Arg526Gln	coding	Benign
7	128840603	C	A	C128840603A	FLNC	NM_001458.4(FLNC):c.1605C>A:p.Cys535Ter	coding	Pathogenic
7	128840612	C	T	C128840612T	FLNC	NM_001458.4(FLNC):c.1614C>T:p.Tyr538=	coding	Benign
7	128841142	T	C	T128841142C	FLNC	NM_001458.4(FLNC):c.1814-28T>C	noncoding	Benign
7	128841258	G	A	G128841258A	FLNC	NM_001458.4(FLNC):c.1902G>A:p.Glu634=	coding	Benign
7	128841304	C	T	C128841304T	FLNC	NM_001458.4(FLNC):c.1948C>T:p.Arg650Ter	coding	Pathogenic
7	128841511	G	T	G128841511T	FLNC	NM_001458.4(FLNC):c.2065G>T:p.Glu689Ter	coding	Pathogenic
7	128841524	A	C	A128841524C	FLNC	NM_001458.4(FLNC):c.2078A>C:p.Asp693Ala	coding	Benign
7	128841565	C	T	C128841565T	FLNC	NM_001458.4(FLNC):c.2119C>T:p.Gln707Ter	coding	Pathogenic
7	128841748	C	T	C128841748T	FLNC	NM_001458.4(FLNC):c.2121+181C>T	noncoding	Benign
7	128841803	A	T	A128841803T	FLNC	NM_001458.4(FLNC):c.2121+236A>T	noncoding	Benign
7	128841861	G	A	G128841861A	FLNC	NM_001458.4(FLNC):c.2121+294G>A	noncoding	Benign
7	128842214	T	C	T128842214C	FLNC	NM_001458.4(FLNC):c.2122-17T>C	noncoding	Benign
7	128842308	C	G	C128842308G	FLNC	NM_001458.4(FLNC):c.2199C>G:p.Thr733=	coding	Benign/Likely_benign
7	128842383	T	C	T128842383C	FLNC	NM_001458.4(FLNC):c.2265+9T>C	noncoding	Benign
7	128842386	C	G	C128842386G	FLNC	NM_001458.4(FLNC):c.2265+12C>G	noncoding	Benign
7	128842561	G	C	G128842561C	FLNC	NM_001458.4(FLNC):c.2266-14G>C	noncoding	Benign/Likely_benign
7	128842691	G	A	G128842691A	FLNC	NM_001458.4(FLNC):c.2382G>A:p.Ala794=	coding	Benign/Likely_benign
7	128842780	C	T	C128842780T	FLNC	NM_001458.4(FLNC):c.2390-14C>T	noncoding	Benign
7	128842781	C	T	C128842781T	FLNC	NM_001458.4(FLNC):c.2390-13C>T	noncoding	Benign
7	128842785	T	C	T128842785C	FLNC	NM_001458.4(FLNC):c.2390-9T>C	noncoding	Benign/Likely_benign
7	128842905	C	T	C128842905T	FLNC	NM_001458.4(FLNC):c.2501C>T:p.Thr834Met	coding	Benign
7	128843116	G	A	G128843116A	FLNC	NM_001458.4(FLNC):c.2551-113G>A	noncoding	Benign
7	128843246	C	T	C128843246T	FLNC	NM_001458.4(FLNC):c.2568C>T:p.Pro856=	coding	Benign/Likely_benign
7	128843825	C	T	C128843825T	FLNC	NM_001458.4(FLNC):c.2841C>T:p.Gly947=	coding	Benign
7	128843873	G	A	G128843873A	FLNC	NM_001458.4(FLNC):c.2889G>A:p.Pro963=	coding	Benign/Likely_benign
7	128844024	C	T	C128844024T	FLNC	NM_001458.5(FLNC):c.2950C>T:p.Gln984Ter	coding	Pathogenic
7	128844045	C	T	C128844045T	FLNC	NM_001458.4(FLNC):c.2971C>T:p.Arg991Ter	coding	Pathogenic
7	128844074	T	C	T128844074C	FLNC	NM_001458.4(FLNC):c.3000T>C:p.Asp1000=	coding	Benign/Likely_benign
7	128844080	G	A	G128844080A	FLNC	NM_001458.4(FLNC):c.3006G>A:p.Arg1002=	coding	Benign/Likely_benign
7	128844113	C	A	C128844113A	FLNC	NM_001458.4(FLNC):c.3039C>A:p.Cys1013Ter	coding	Pathogenic
7	128844158	C	A	C128844158A	FLNC	NM_001458.4(FLNC):c.3084C>A:p.Tyr1028Ter	coding	Pathogenic
7	128844212	G	A	G128844212A	FLNC	NM_001458.4(FLNC):c.3138G>A:p.Pro1046=	coding	Benign/Likely_benign
7	128844666	T	G	T128844666G	FLNC	NM_001458.4(FLNC):c.3201T>G:p.Ala1067=	coding	Benign
7	128844762	A	G	A128844762G	FLNC	NM_001458.4(FLNC):c.3297A>G:p.Val1099=	coding	Benign
7	128844971	A	G	A128844971G	FLNC	NM_001458.4(FLNC):c.3506A>G:p.Lys1169Arg	coding	Benign
7	128845022	C	T	C128845022T	FLNC	NM_001458.4(FLNC):c.3557C>T:p.Ala1186Val	coding	Pathogenic/Likely_pathogenic
7	128845086	C	T	C128845086T	FLNC	NM_001458.4(FLNC):c.3621C>T:p.Asn1207=	coding	Benign/Likely_benign
7	128845089	G	A	G128845089A	FLNC	NM_001458.4(FLNC):c.3624G>A:p.Ala1208=	coding	Benign
7	128845186	C	T	C128845186T	FLNC	NM_001458.4(FLNC):c.3721C>T:p.Arg1241Cys	coding	Benign
7	128845222	G	A	G128845222A	FLNC	NM_001458.4(FLNC):c.3757G>A:p.Val1253Ile	coding	Benign
7	128845230	C	A	C128845230A	FLNC	NM_001458.4(FLNC):c.3765C>A:p.Val1255=	coding	Benign
7	128845796	T	G	T128845796G	FLNC	NM_001458.4(FLNC):c.3791-194T>G	noncoding	Benign
7	128845989	G	C	G128845989C	FLNC	NM_001458.4(FLNC):c.3791-1G>C	noncoding	Pathogenic/Likely_pathogenic
7	128846037	C	T	C128846037T	FLNC	NM_001458.4(FLNC):c.3838C>T:p.Leu1280=	coding	Benign
7	128846051	C	T	C128846051T	FLNC	NM_001458.4(FLNC):c.3852C>T:p.Gly1284=	coding	Benign
7	128846060	C	T	C128846060T	FLNC	NM_001458.4(FLNC):c.3861C>T:p.His1287=	coding	Benign/Likely_benign
7	128846136	C	T	C128846136T	FLNC	NM_001458.4(FLNC):c.3937C>T:p.Arg1313Ter	coding	Pathogenic
7	128846172	C	T	C128846172T	FLNC	NM_001458.4(FLNC):c.3964+9C>T	noncoding	Benign
7	128846309	C	T	C128846309T	FLNC	NM_001458.4(FLNC):c.3973C>T:p.Leu1325=	coding	Benign
7	128846357	C	T	C128846357T	FLNC	NM_001458.4(FLNC):c.4021C>T:p.Arg1341Ter	coding	Pathogenic/Likely_pathogenic
7	128846392	C	T	C128846392T	FLNC	NM_001458.4(FLNC):c.4056C>T:p.Arg1352=	coding	Benign
7	128846396	C	T	C128846396T	FLNC	NM_001458.4(FLNC):c.4060C>T:p.Arg1354Ter	coding	Pathogenic
7	128846444	C	T	C128846444T	FLNC	NM_001458.4(FLNC):c.4108C>T:p.Arg1370Ter	coding	Pathogenic
7	128846461	C	T	C128846461T	FLNC	NM_001458.4(FLNC):c.4125C>T:p.Thr1375=	coding	Benign
7	128846464	G	T	G128846464T	FLNC	NM_001458.4(FLNC):c.4127+1G>T	coding	Pathogenic
7	128846757	C	T	C128846757T	FLNC	NM_001458.4(FLNC):c.4140C>T:p.Thr1380=	coding	Benign
7	128846778	C	T	C128846778T	FLNC	NM_001458.4(FLNC):c.4161C>T:p.Ile1387=	coding	Benign/Likely_benign
7	128847209	T	C	T128847209C	FLNC	NM_001458.4(FLNC):c.4288+304T>C	noncoding	Benign
7	128847519	T	A	T128847519A	FLNC	NM_001458.4(FLNC):c.4289-178T>A	noncoding	Benign
7	128847693	A	C	A128847693C	FLNC	NM_001458.4(FLNC):c.4289-4A>C	noncoding	Benign
7	128847710	C	T	C128847710T	FLNC	NM_001458.4(FLNC):c.4302C>T:p.Arg1434=	coding	Benign
7	128847812	T	C	T128847812C	FLNC	NM_001458.4(FLNC):c.4404=:p.Asp1468=	coding	Benign
7	128847833	G	A	G128847833A	FLNC	NM_001458.4(FLNC):c.4425G>A:p.Ala1475=	coding	Benign/Likely_benign
7	128847839	G	A	G128847839A	FLNC	NM_001458.4(FLNC):c.4431G>A:p.Leu1477=	coding	Benign
7	128848337	C	A	C128848337A	FLNC	NM_001458.4(FLNC):c.4581-224C>A	noncoding	Benign
7	128848595	G	A	G128848595A	FLNC	NM_001458.4(FLNC):c.4615G>A:p.Ala1539Thr	coding	Pathogenic
7	128848601	A	T	A128848601T	FLNC	NM_001458.4(FLNC):c.4621A>T:p.Lys1541Ter	coding	Pathogenic
7	128848680	G	A	G128848680A	FLNC	NM_001458.4(FLNC):c.4700G>A:p.Arg1567Gln	coding	Benign
7	128848709	C	T	C128848709T	FLNC	NM_001458.4(FLNC):c.4729C>T:p.Gln1577Ter	coding	Pathogenic
7	128848849	C	A	C128848849A	FLNC	NM_001458.5(FLNC):c.4794C>A:p.Tyr1598Ter	coding	Pathogenic
7	128849174	T	C	T128849174C	FLNC	NM_001458.4(FLNC):c.4928-7T>C	noncoding	Benign
7	128849200	C	T	C128849200T	FLNC	NM_001458.4(FLNC):c.4947C>T:p.Gly1649=	coding	Benign/Likely_benign
7	128849321	C	T	C128849321T	FLNC	NM_001458.4(FLNC):c.4952-10C>T	noncoding	Benign/Likely_benign
7	128849348	C	T	C128849348T	FLNC	NM_001458.4(FLNC):c.4969C>T:p.Arg1657Ter	coding	Pathogenic/Likely_pathogenic
7	128849363	C	T	C128849363T	FLNC	NM_001458.4(FLNC):c.4984C>T:p.Gln1662Ter	coding	Pathogenic
7	128849421	C	G	C128849421G	FLNC	NM_001458.4(FLNC):c.5042C>G:p.Thr1681Arg	coding	Benign/Likely_benign
7	128849449	C	T	C128849449T	FLNC	NM_001458.4(FLNC):c.5070C>T:p.Leu1690=	coding	Benign/Likely_benign
7	128850038	C	T	C128850038T	FLNC	NM_001458.4(FLNC):c.5262C>T:p.Tyr1754=	coding	Benign/Likely_benign
7	128850420	G	T	G128850420T	FLNC	NM_001458.5(FLNC):c.5335G>T:p.Glu1779Ter	coding	Pathogenic
7	128850499	T	C	T128850499C	FLNC	NM_001458.4(FLNC):c.5398+16T>C	noncoding	Benign
7	128850712	G	A	G128850712A	FLNC	NM_001458.4(FLNC):c.5399-91G>A	noncoding	Benign
7	128850831	G	C	G128850831C	FLNC	NM_001458.4(FLNC):c.5427G>C:p.Thr1809=	coding	Benign/Likely_benign
7	128851112	T	C	T128851112C	FLNC	NM_001458.4(FLNC):c.5540-120T>C	noncoding	Benign
7	128851270	C	T	C128851270T	FLNC	NM_001458.4(FLNC):c.5578C>T:p.Arg1860Cys	coding	Benign/Likely_benign
7	128851284	C	T	C128851284T	FLNC	NM_001458.4(FLNC):c.5592C>T:p.Ala1864=	coding	Benign
7	128851345	A	T	A128851345T	FLNC	NM_001458.4(FLNC):c.5653A>T:p.Lys1885Ter	coding	Pathogenic
7	128851443	C	T	C128851443T	FLNC	NM_001458.4(FLNC):c.5669-12C>T	noncoding	Benign
7	128851549	T	C	T128851549C	FLNC	NM_001458.4(FLNC):c.5763T>C:p.Thr1921=	coding	Benign
7	128851550	G	A	G128851550A	FLNC	NM_001458.4(FLNC):c.5764G>A:p.Ala1922Thr	coding	Benign
7	128851636	G	A	G128851636A	FLNC	NM_001458.4(FLNC):c.5842+8G>A	noncoding	Benign
7	128851888	G	C	G128851888C	FLNC	NM_001458.4(FLNC):c.5842+260G>C	noncoding	Benign
7	128852343	C	T	C128852343T	FLNC	NM_001458.4(FLNC):c.5843-248C>T	noncoding	Benign
7	128852503	G	C	G128852503C	FLNC	NM_001458.4(FLNC):c.5843-88G>C	noncoding	Benign
7	128852504	G	A	G128852504A	FLNC	NM_001458.4(FLNC):c.5843-87G>A	noncoding	Benign
7	128852585	C	G	C128852585G	FLNC	NM_001458.4(FLNC):c.5843-6C>G	noncoding	Benign
7	128852637	G	A	G128852637A	FLNC	NM_001458.4(FLNC):c.5889G>A:p.Thr1963=	coding	Benign
7	128852640	C	T	C128852640T	FLNC	NM_001458.4(FLNC):c.5892C>T:p.Asp1964=	coding	Benign
7	128852658	C	T	C128852658T	FLNC	NM_001458.4(FLNC):c.5910C>T:p.Thr1970=	coding	Benign
7	128852763	G	A	G128852763A	FLNC	NM_001458.4(FLNC):c.6004+11G>A	noncoding	Benign
7	128852771	G	A	G128852771A	FLNC	NM_001458.4(FLNC):c.6004+19G>A	noncoding	Benign
7	128852819	T	C	T128852819C	FLNC	NM_001458.4(FLNC):c.6005-9T>C	noncoding	Benign
7	128852937	C	T	C128852937T	FLNC	NM_001458.4(FLNC):c.6114C>T:p.Ile2038=	coding	Benign/Likely_benign
7	128852943	C	T	C128852943T	FLNC	NM_001458.4(FLNC):c.6120C>T:p.Asp2040=	coding	Benign
7	128852998	G	A	G128852998A	FLNC	NM_001458.4(FLNC):c.6175G>A:p.Val2059Met	coding	Benign/Likely_benign
7	128853115	C	T	C128853115T	FLNC	NM_001458.4(FLNC):c.6208+84C>T	noncoding	Benign
7	128853569	C	T	C128853569T	FLNC	NM_001458.4(FLNC):c.6309C>T:p.Thr2103=	coding	Benign/Likely_benign
7	128853812	C	T	C128853812T	FLNC	NM_001458.4(FLNC):c.6459C>T:p.Thr2153=	coding	Benign
7	128853831	A	T	A128853831T	FLNC	NM_001458.4(FLNC):c.6478A>T:p.Ile2160Phe	coding	Pathogenic
7	128854456	A	G	A128854456G	FLNC	NM_001458.4(FLNC):c.6771A>G:p.Pro2257=	coding	Benign
7	128854568	C	T	C128854568T	FLNC	NM_001458.4(FLNC):c.6883C>T:p.Gln2295Ter	coding	Pathogenic
7	128854573	C	T	C128854573T	FLNC	NM_001458.4(FLNC):c.6888C>T:p.His2296=	coding	Benign/Likely_benign
7	128854628	C	A	C128854628A	FLNC	NM_001458.4(FLNC):c.6943C>A:p.His2315Asn	coding	Pathogenic
7	128854661	C	T	C128854661T	FLNC	NM_001458.4(FLNC):c.6976C>T:p.Arg2326Ter	coding	Pathogenic
7	128854673	G	A	G128854673A	FLNC	NM_001458.4(FLNC):c.6988G>A:p.Gly2330Ser	coding	Benign
7	128854676	G	A	G128854676A	FLNC	NM_001458.4(FLNC):c.6991G>A:p.Val2331Met	coding	Benign/Likely_benign
7	128854868	G	A	G128854868A	FLNC	NM_001458.4(FLNC):c.7091G>A:p.Arg2364His	coding	Benign/Likely_benign
7	128855248	C	T	C128855248T	FLNC	NM_001458.4(FLNC):c.7185C>T:p.Ser2395=	coding	Benign
7	128855278	G	A	G128855278A	FLNC	NM_001458.4(FLNC):c.7215G>A:p.Ser2405=	coding	Benign
7	128855284	C	T	C128855284T	FLNC	NM_001458.4(FLNC):c.7221C>T:p.Asp2407=	coding	Benign
7	128855315	G	A	G128855315A	FLNC	NM_001458.4(FLNC):c.7251+1G>A	coding	Pathogenic
7	128855315	G	T	G128855315T	FLNC	NM_001458.4(FLNC):c.7251+1G>T	coding	Pathogenic
7	128855508	G	T	G128855508T	FLNC	NM_001458.4(FLNC):c.7251+194G>T	noncoding	Benign
7	128856547	G	A	G128856547A	FLNC	NM_001458.4(FLNC):c.7281G>A:p.Ala2427=	coding	Benign/Likely_benign
7	128856560	C	T	C128856560T	FLNC	NM_001458.4(FLNC):c.7294C>T:p.Gln2432Ter	coding	Pathogenic
7	128856631	C	A	C128856631A	FLNC	NM_001458.4(FLNC):c.7365C>A:p.Tyr2455Ter	coding	Pathogenic
7	128856740	C	T	C128856740T	FLNC	NM_001458.4(FLNC):c.7385-5C>T	noncoding	Benign
7	128856893	C	T	C128856893T	FLNC	NM_001458.4(FLNC):c.7533C>T:p.Tyr2511=	coding	Benign/Likely_benign
7	128856905	C	T	C128856905T	FLNC	NM_001458.4(FLNC):c.7545C>T:p.Leu2515=	coding	Benign
7	128857113	C	T	C128857113T	FLNC	NM_001458.4(FLNC):c.7562-5C>T	noncoding	Benign
7	128857170	G	T	G128857170T	FLNC	NM_001458.4(FLNC):c.7614G>T:p.Leu2538Phe	coding	Benign/Likely_benign
7	128857244	A	G	A128857244G	FLNC	NM_001458.4(FLNC):c.7688A>G:p.Tyr2563Cys	coding	Pathogenic
7	128857346	A	G	A128857346G	FLNC	NM_001458.4(FLNC):c.7780+10A>G	noncoding	Benign/Likely_benign
7	128857718	G	A	G128857718A	FLNC	NM_001458.4(FLNC):c.7781-290G>A	noncoding	Benign
7	128857999	A	G	A128857999G	FLNC	NM_001458.4(FLNC):c.7781-9A>G	noncoding	Benign
7	128858174	C	T	C128858174T	FLNC	NM_001458.4(FLNC):c.7947C>T:p.Phe2649=	coding	Benign/Likely_benign
7	128858226	C	T	C128858226T	FLNC	NM_001458.4(FLNC):c.7990+9C>T	noncoding	Benign/Likely_benign
7	128858394	C	T	C128858394T	FLNC	NM_001458.4(FLNC):c.8049C>T:p.Tyr2683=	coding	Benign
7	128858463	C	T	C128858463T	FLNC	NM_001458.4(FLNC):c.8118C>T:p.Leu2706=	coding	Benign
7	128858466	T	C	T128858466C	FLNC	NM_001458.4(FLNC):c.8121T>C:p.Ile2707=	coding	Benign
7	128858474	G	A	G128858474A	FLNC	NM_001458.4(FLNC):c.8129G>A:p.Trp2710Ter	coding	Pathogenic/Likely_pathogenic
7	128858475	G	A	G128858475A	FLNC	NM_001458.4(FLNC):c.8130G>A:p.Trp2710Ter	coding	Pathogenic
7	128858524	A	G	A128858524G	FLNC	NM_001458.4(FLNC):c.*1A>G	coding	Benign
7	128945898	G	A	G128945898A	IRF5	NM_001098629.3(IRF5):c.249G>A:p.Pro83=	coding	Benign
7	128946562	G	A	G128946562A	IRF5	NM_001098629.3(IRF5):c.447G>A:p.Glu149=	coding	Benign
7	128947324	G	A	G128947324A	IRF5	NM_001098629.3(IRF5):c.576G>A:p.Pro192=	coding	Benign
7	128947991	T	G	T128947991G	IRF5	NM_001098629.3(IRF5):c.1050T>G:p.Leu350=	coding	Benign
7	128957533	T	G	T128957533G	TNPO3	NM_012470.3(TNPO3):c.2712-218A>C	noncoding	Benign
7	128967330	G	A	G128967330A	TNPO3	NM_012470.3(TNPO3):c.2661C>T:p.Ala887=	coding	Benign
7	128967336	C	T	C128967336T	TNPO3	NM_012470.3(TNPO3):c.2655G>A:p.Val885=	coding	Benign
7	128967339	G	A	G128967339A	TNPO3	NM_012470.3(TNPO3):c.2652C>T:p.Thr884=	coding	Benign/Likely_benign
7	128970293	C	G	C128970293G	TNPO3	NM_012470.3(TNPO3):c.2453G>C:p.Arg818Pro	coding	Pathogenic
7	128970321	T	G	T128970321G	TNPO3	NM_012470.3(TNPO3):c.2431-6A>C	noncoding	Benign/Likely_benign
7	128972498	C	T	C128972498T	TNPO3	NM_012470.3(TNPO3):c.2358G>A:p.Leu786=	coding	Benign
7	128972576	A	G	A128972576G	TNPO3	NM_012470.3(TNPO3):c.2280T>C:p.Ile760=	coding	Benign/Likely_benign
7	128974852	C	T	C128974852T	TNPO3	NM_012470.3(TNPO3):c.2273+16G>A	noncoding	Benign
7	128974936	G	A	G128974936A	TNPO3	NM_012470.3(TNPO3):c.2205C>T:p.Leu735=	coding	Benign
7	128975012	A	G	A128975012G	TNPO3	NM_012470.3(TNPO3):c.2179-50T>C	noncoding	Benign
7	128975843	C	A	C128975843A	TNPO3	NM_012470.3(TNPO3):c.2154G>T:p.Arg718=	coding	Benign
7	128975947	A	C	A128975947C	TNPO3	NM_012470.3(TNPO3):c.2062-12T>G	noncoding	Benign
7	128979361	T	A	T128979361A	TNPO3	NM_012470.3(TNPO3):c.1921-238A>T	noncoding	Benign
7	128984019	C	A	C128984019A	TNPO3	NM_012470.3(TNPO3):c.1782+149G>T	noncoding	Benign
7	128984373	A	T	A128984373T	TNPO3	NM_012470.3(TNPO3):c.1691-114T>A	noncoding	Benign
7	128986503	A	G	A128986503G	TNPO3	NM_012470.3(TNPO3):c.1690+226T>C	noncoding	Benign
7	128989939	A	G	A128989939G	TNPO3	NM_012470.3(TNPO3):c.1498+22T>C	noncoding	Benign
7	128990173	C	T	C128990173T	TNPO3	NM_012470.3(TNPO3):c.1359-73G>A	noncoding	Benign
7	128990259	T	C	T128990259C	TNPO3	NM_012470.3(TNPO3):c.1359-159A>G	noncoding	Benign
7	128993668	T	C	T128993668C	TNPO3	NM_012470.3(TNPO3):c.1266+139A>G	noncoding	Benign
7	129000134	A	G	A129000134G	TNPO3	NM_012470.3(TNPO3):c.1011+295T>C	noncoding	Benign
7	129000239	C	T	C129000239T	TNPO3	NM_012470.3(TNPO3):c.1011+190G>A	noncoding	Benign
7	129000280	A	T	A129000280T	TNPO3	NM_012470.3(TNPO3):c.1011+149T>A	noncoding	Benign
7	129001172	G	C	G129001172C	TNPO3	NM_012470.3(TNPO3):c.759C>G:p.Leu253=	coding	Benign
7	129004803	C	T	C129004803T	TNPO3	NM_012470.3(TNPO3):c.696+213G>A	noncoding	Benign
7	129005238	A	C	A129005238C	TNPO3	NM_012470.3(TNPO3):c.553-79T>G	noncoding	Benign
7	129014786	T	A	T129014786A	TNPO3	NM_012470.3(TNPO3):c.552+193A>T	noncoding	Benign
7	129016777	C	T	C129016777T	TNPO3	NM_012470.3(TNPO3):c.395+206G>A	noncoding	Benign
7	129017223	T	C	T129017223C	TNPO3	NM_012470.3(TNPO3):c.322-167A>G	noncoding	Benign
7	129017941	G	A	G129017941A	TNPO3	NM_012470.3(TNPO3):c.321+16C>T	noncoding	Benign
7	129054645	C	T	C129054645T	TNPO3	NM_012470.3(TNPO3):c.120+6G>A	noncoding	Benign
7	129054779	C	T	C129054779T	TNPO3	NM_012470.3(TNPO3):c.-9G>A	noncoding	Benign/Likely_benign
7	129054922	C	T	C129054922T	TNPO3	NM_012470.3(TNPO3):c.-152G>A	noncoding	Benign
7	129055225	A	G	A129055225G	TNPO3	NM_012470.3(TNPO3):c.-455T>C	noncoding	Benign
7	129189225	A	G	A129189225G	SMO	NM_005631.5(SMO):c.74A>G:p.Asp25Gly	coding	Benign
7	129203555	G	A	G129203555A	SMO	NM_005631.5(SMO):c.503G>A:p.Arg168His	coding	Benign
7	129205247	A	G	A129205247G	SMO	NM_005631.5(SMO):c.582A>G:p.Glu194=	coding	Benign
7	129205286	C	T	C129205286T	SMO	NM_005631.5(SMO):c.621C>T:p.Tyr207=	coding	Benign
7	129205382	C	T	C129205382T	SMO	NM_005631.5(SMO):c.717C>T:p.Ala239=	coding	Benign
7	129205400	G	A	G129205400A	SMO	NM_005631.5(SMO):c.735G>A:p.Thr245=	coding	Benign
7	129205643	C	T	C129205643T	SMO	NM_005631.5(SMO):c.781C>T:p.Arg261Cys	coding	Pathogenic
7	129205670	G	A	G129205670A	SMO	NM_005631.5(SMO):c.808G>A:p.Val270Ile	coding	Benign
7	129206487	G	C	G129206487C	SMO	NM_005631.5(SMO):c.1164G>C:p.Gly388=	coding	Benign
7	129206526	G	C	G129206526C	SMO	NM_005631.5(SMO):c.1203G>C:p.Ala401=	coding	Benign
7	129206557	C	T	C129206557T	SMO	NM_005631.5(SMO):c.1234C>T:p.Leu412Phe	coding	Pathogenic
7	129208779	A	T	A129208779T	SMO	NM_005631.5(SMO):c.1285A>T:p.Ile429Phe	coding	Pathogenic
7	129208811	G	A	G129208811A	SMO	NM_005631.5(SMO):c.1317G>A:p.Glu439=	coding	Benign
7	129208833	G	T	G129208833T	SMO	NM_005631.5(SMO):c.1339G>T:p.Glu447Ter	coding	Pathogenic
7	129209348	G	C	G129209348C	SMO	NM_005631.5(SMO):c.1417G>C:p.Asp473His	coding	Pathogenic
7	129210500	G	T	G129210500T	SMO	NM_005631.5(SMO):c.1604G>T:p.Trp535Leu	coding	Pathogenic
7	129210997	G	A	G129210997A	SMO	NM_005631.5(SMO):c.1685G>A:p.Arg562Gln	coding	Pathogenic
7	129211038	C	T	C129211038T	SMO	NM_005631.5(SMO):c.1726C>T:p.Arg576Trp	coding	Pathogenic
7	129211039	G	A	G129211039A	SMO	NM_005631.5(SMO):c.1727G>A:p.Arg576Gln	coding	Pathogenic
7	129212026	C	T	C129212026T	SMO	NM_005631.5(SMO):c.1939C>T:p.Pro647Ser	coding	Benign/Likely_benign
7	129212147	C	T	C129212147T	SMO	NM_005631.5(SMO):c.2060C>T:p.Pro687Leu	coding	Benign
7	129212346	G	A	G129212346A	SMO	NM_005631.5(SMO):c.2259G>A:p.Pro753=	coding	Benign
7	129657483	G	A	G129657483A	NRF1	NM_005011.5(NRF1):c.132G>A:p.Ser44=	coding	Benign
7	129671445	C	T	C129671445T	NRF1	NM_005011.5(NRF1):c.240C>T:p.Ala80=	coding	Benign
7	129727250	C	T	C129727250T	NRF1	NM_005011.5(NRF1):c.1233C>T:p.Ala411=	coding	Benign
7	129774728	G	A	G129774728A	MIR96	NR_029512.1(MIR96):n.42C>T	noncoding	Benign/Likely_benign
7	129774734	A	G	A129774734G	MIR96	NR_029512.1(MIR96):n.36T>C	noncoding	Benign/Likely_benign
7	129774756	G	T	G129774756T	MIR96	NR_029512.1(MIR96):n.14C>A	noncoding	Pathogenic
7	129774757	C	T	C129774757T	MIR96	NR_029512.1(MIR96):n.13G>A	noncoding	Pathogenic
7	130269713	C	T	C130269713T	CPA2	NM_001869.3(CPA2):c.198C>T:p.His66=	coding	Benign
7	130269714	G	A	G130269714A	CPA2	NM_001869.3(CPA2):c.199G>A:p.Val67Ile	coding	Benign
7	130275176	A	G	A130275176G	CPA2	NM_001869.3(CPA2):c.514A>G:p.Ile172Val	coding	Benign
7	130380525	G	A	G130380525A	CPA1	NM_001868.4(CPA1):c.5G>A:p.Arg2Gln	coding	Benign
7	130381647	G	C	G130381647C	CPA1	NM_001868.4(CPA1):c.165G>C:p.Gly55=	coding	Benign
7	130381803	C	T	C130381803T	CPA1	NM_001868.4(CPA1):c.321C>T:p.Phe107=	coding	Benign
7	130382200	C	T	C130382200T	CPA1	NM_001868.4(CPA1):c.474C>T:p.Tyr158=	coding	Benign
7	130383698	C	T	C130383698T	CPA1	NM_001868.4(CPA1):c.600C>T:p.Tyr200=	coding	Benign
7	130383702	C	A	C130383702A	CPA1	NM_001868.4(CPA1):c.604C>A:p.Gln202Lys	coding	Benign/Likely_benign
7	130383719	C	T	C130383719T	CPA1	NM_001868.4(CPA1):c.621C>T:p.Thr207=	coding	Benign/Likely_benign
7	130383720	G	A	G130383720A	CPA1	NM_001868.4(CPA1):c.622G>A:p.Ala208Thr	coding	Benign
7	130385141	C	G	C130385141G	CPA1	NM_001868.4(CPA1):c.788-5C>G	noncoding	Benign/Likely_benign
7	130385174	G	A	G130385174A	CPA1	NM_001868.4(CPA1):c.816G>A:p.Ser272=	coding	Benign/Likely_benign
7	130385872	G	A	G130385872A	CPA1	NM_001868.4(CPA1):c.1021G>A:p.Ala341Thr	coding	Benign
7	130385880	C	T	C130385880T	CPA1	NM_001868.4(CPA1):c.1029C>T:p.Leu343=	coding	Benign/Likely_benign
7	130387960	G	A	G130387960A	CPA1	NM_001868.4(CPA1):c.1209G>A:p.Thr403=	coding	Benign/Likely_benign
7	130393789	C	T	C130393789T	CEP41	NM_018718.3(CEP41):c.*5102G>A	noncoding	Benign
7	130394296	C	T	C130394296T	CEP41	NM_018718.3(CEP41):c.*4595G>A	noncoding	Benign
7	130394596	C	G	C130394596G	CEP41	NM_018718.3(CEP41):c.*4295G>C	noncoding	Benign
7	130394854	T	C	T130394854C	CEP41	NM_018718.3(CEP41):c.*4037A>G	noncoding	Benign
7	130395004	G	C	G130395004C	CEP41	NM_018718.3(CEP41):c.*3887C>G	noncoding	Benign
7	130395035	G	A	G130395035A	CEP41	NM_018718.3(CEP41):c.*3856C>T	noncoding	Benign
7	130395108	A	G	A130395108G	CEP41	NM_018718.3(CEP41):c.*3783T>C	noncoding	Benign
7	130395126	C	A	C130395126A	CEP41	NM_018718.3(CEP41):c.*3765G>T	noncoding	Benign
7	130395384	G	A	G130395384A	CEP41	NM_018718.3(CEP41):c.*3507C>T	noncoding	Benign
7	130396409	T	A	T130396409A	CEP41	NM_018718.3(CEP41):c.*2482A>T	noncoding	Benign
7	130396850	C	T	C130396850T	CEP41	NM_018718.3(CEP41):c.*2041G>A	noncoding	Benign
7	130396960	G	A	G130396960A	CEP41	NM_018718.3(CEP41):c.*1931C>T	noncoding	Benign
7	130397032	C	A	C130397032A	CEP41	NM_018718.3(CEP41):c.*1859G>T	noncoding	Benign
7	130397964	A	G	A130397964G	CEP41	NM_018718.3(CEP41):c.*927T>C	noncoding	Benign
7	130398236	G	A	G130398236A	CEP41	NM_018718.3(CEP41):c.*655C>T	noncoding	Benign
7	130398935	G	A	G130398935A	CEP41	NM_018718.3(CEP41):c.1078C>T:p.Arg360Cys	coding	Pathogenic
7	130400746	A	C	A130400746C	CEP41	NM_018718.3(CEP41):c.718T>G:p.Cys240Gly	coding	Benign/Likely_benign
7	130400987	T	G	T130400987G	CEP41	NM_018718.3(CEP41):c.643-166A>C	noncoding	Benign
7	130402686	C	T	C130402686T	CEP41	NM_018718.3(CEP41):c.536G>A:p.Arg179His	coding	Pathogenic
7	130402801	T	C	T130402801C	CEP41	NM_018718.3(CEP41):c.423-2A>G	noncoding	Pathogenic
7	130402801	T	G	T130402801G	CEP41	NM_018718.3(CEP41):c.423-2A>C	noncoding	Pathogenic
7	130404568	G	A	G130404568A	CEP41	NM_018718.3(CEP41):c.418C>T:p.Gln140Ter	coding	Pathogenic
7	130411196	T	C	T130411196C	CEP41	NM_018718.3(CEP41):c.208-5A>G	noncoding	Benign/Likely_benign
7	130427969	G	T	G130427969T	CEP41	NM_018718.3(CEP41):c.83C>A:p.Ser28Ter	coding	Pathogenic
7	130440699	T	C	T130440699C	CEP41	NM_018718.3(CEP41):c.33+235A>G	noncoding	Benign
7	130440932	A	C	A130440932C	CEP41	NM_018718.3(CEP41):c.33+2T>G	noncoding	Pathogenic
7	130440971	T	G	T130440971G	CEP41	NM_018718.3(CEP41):c.-5A>C	noncoding	Benign
7	130441110	C	T	C130441110T	CEP41	NM_001257159.1(CEP41):c.-144G>A	noncoding	Benign/Likely_benign
7	130441144	G	A	G130441144A	CEP41	NM_001257159.1(CEP41):c.-178C>T	noncoding	Benign/Likely_benign
7	131504383	C	A	C131504383A	PODXL	NM_001018111.3(PODXL):c.1605G>T:p.Gly535=	coding	Benign
7	131504449	C	T	C131504449T	PODXL	NM_001018111.3(PODXL):c.1539G>A:p.Leu513=	coding	Benign
7	131504482	T	C	T131504482C	PODXL	NM_001018111.3(PODXL):c.1506A>G:p.Thr502=	coding	Benign
7	131506251	G	A	G131506251A	PODXL	NM_001018111.3(PODXL):c.1311+9C>T	noncoding	Benign
7	131506717	C	T	C131506717T	PODXL	NM_001018111.3(PODXL):c.1111G>A:p.Ala371Thr	coding	Benign
7	131509377	A	G	A131509377G	PODXL	NM_001018111.3(PODXL):c.1011T>C:p.His337=	coding	Benign
7	131510967	G	C	G131510967C	PODXL	NM_001018111.3(PODXL):c.567C>G:p.Pro189=	coding	Benign
7	131511370	A	C	A131511370C	PODXL	NM_001018111.3(PODXL):c.164T>G:p.Ile55Ser	coding	Benign
7	131556320	A	G	A131556320G	PODXL	NM_001018111.3(PODXL):c.40T>C:p.Leu14=	coding	Benign
7	131556330	C	T	C131556330T	PODXL	NM_001018111.3(PODXL):c.30G>A:p.Leu10=	coding	Benign
7	132145293	A	G	A132145293G	PLXNA4	NM_020911.1(PLXNA4):c.5056-5T>C	noncoding	Benign
7	132159636	A	C	A132159636C	PLXNA4	NM_020911.1(PLXNA4):c.4501-4T>G	noncoding	Benign
7	132164134	G	A	G132164134A	PLXNA4	NM_020911.1(PLXNA4):c.4500+8C>T	noncoding	Benign
7	132164145	G	T	G132164145T	PLXNA4	NM_020911.1(PLXNA4):c.4497C>A:p.Thr1499=	coding	Benign
7	132181396	C	T	C132181396T	PLXNA4	NM_020911.1(PLXNA4):c.3477G>A:p.Thr1159=	coding	Benign
7	132181538	G	A	G132181538A	PLXNA4	NM_020911.1(PLXNA4):c.3335C>T:p.Thr1112Ile	coding	Benign
7	132202799	G	A	G132202799A	PLXNA4	NM_020911.1(PLXNA4):c.2433C>T:p.Cys811=	coding	Benign
7	132203384	G	A	G132203384A	PLXNA4	NM_020911.1(PLXNA4):c.2334C>T:p.Pro778=	coding	Benign
7	132241131	A	G	A132241131G	PLXNA4	NM_020911.1(PLXNA4):c.1539T>C:p.Tyr513=	coding	Benign
7	132241157	C	T	C132241157T	PLXNA4	NM_020911.1(PLXNA4):c.1513G>A:p.Val505Ile	coding	Benign
7	132489393	C	T	C132489393T	PLXNA4	NM_020911.1(PLXNA4):c.1270G>A:p.Val424Ile	coding	Benign
7	132489414	C	T	C132489414T	PLXNA4	NM_020911.1(PLXNA4):c.1249G>A:p.Asp417Asn	coding	Benign
7	132489460	G	A	G132489460A	PLXNA4	NM_020911.1(PLXNA4):c.1203C>T:p.Asp401=	coding	Benign
7	132507740	C	T	C132507740T	PLXNA4	NM_020911.1(PLXNA4):c.954G>A:p.Ala318=	coding	Benign
7	132508223	C	T	C132508223T	PLXNA4	NM_020911.1(PLXNA4):c.471G>A:p.Glu157=	coding	Benign
7	132508576	A	G	A132508576G	PLXNA4	NM_020911.1(PLXNA4):c.118T>C:p.Phe40Leu	coding	Benign
7	132508612	G	A	G132508612A	PLXNA4	NM_020911.1(PLXNA4):c.82C>T:p.Arg28Trp	coding	Benign
7	133253161	C	T	C133253161T	EXOC4	NM_021807.4(EXOC4):c.60C>T:p.Pro20=	coding	Benign
7	133817458	G	A	G133817458A	EXOC4	NM_021807.4(EXOC4):c.1648G>A:p.Gly550Arg	coding	Benign
7	133997532	C	T	C133997532T	EXOC4	NM_021807.4(EXOC4):c.2247C>T:p.Leu749=	coding	Benign
7	134064381	C	T	C134064381T	EXOC4	NM_021807.4(EXOC4):c.2778C>T:p.Ile926=	coding	Benign
7	134448001	C	T	C134448001T	AKR1B1	NM_001628.4(AKR1B1):c.720G>A:p.Lys240=	coding	Benign
7	134449714	T	C	T134449714C	AKR1B1	NM_001628.4(AKR1B1):c.429+6A>G	noncoding	Benign
7	134449726	C	T	C134449726T	AKR1B1	NM_001628.4(AKR1B1):c.423G>A:p.Thr141=	coding	Benign
7	134450843	G	A	G134450843A	AKR1B1	NM_001628.4(AKR1B1):c.294C>T:p.Ser98=	coding	Benign
7	134568262	A	G	A134568262G	AKR1B15	NM_001080538.3(AKR1B15):c.255A>G:p.Glu85=	coding	Benign
7	134571663	G	A	G134571663A	AKR1B15	NM_001080538.3(AKR1B15):c.495G>A:p.Thr165=	coding	Benign
7	134577056	C	T	C134577056T	AKR1B15	NM_001080538.3(AKR1B15):c.909+10C>T	noncoding	Benign
7	134661692	G	A	G134661692A	BPGM	NM_001724.5(BPGM):c.185G>A:p.Arg62Gln	coding	Pathogenic
7	134661775	C	T	C134661775T	BPGM	NM_001724.5(BPGM):c.268C>T:p.Arg90Cys	coding	Pathogenic
7	134661776	G	A	G134661776A	BPGM	NM_001724.5(BPGM):c.269G>A:p.Arg90His	coding	Pathogenic
7	134932998	G	A	G134932998A	CALD1	NM_033138.4(CALD1):c.229G>A:p.Glu77Lys	coding	Benign
7	134933176	G	A	G134933176A	CALD1	NM_033138.4(CALD1):c.407G>A:p.Arg136Lys	coding	Benign
7	134933281	C	T	C134933281T	CALD1	NM_033138.4(CALD1):c.512C>T:p.Ser171Phe	coding	Benign
7	134933720	G	A	G134933720A	CALD1	NM_033138.4(CALD1):c.951G>A:p.Met317Ile	coding	Benign
7	134933740	C	A	C134933740A	CALD1	NM_033138.4(CALD1):c.971C>A:p.Ala324Glu	coding	Benign
7	134958240	A	G	A134958240G	CALD1	NM_033138.4(CALD1):c.2011A>G:p.Ile671Val	coding	Benign
7	134993499	C	G	C134993499G	AGBL3	NM_178563.4(AGBL3):c.131C>G:p.Ser44Cys	coding	Benign
7	134993522	C	T	C134993522T	AGBL3	NM_178563.4(AGBL3):c.154C>T:p.Arg52Trp	coding	Benign
7	134993576	C	T	C134993576T	AGBL3	NM_178563.4(AGBL3):c.208C>T:p.Arg70Cys	coding	Benign
7	135034203	C	T	C135034203T	AGBL3	NM_178563.4(AGBL3):c.612C>T:p.His204=	coding	Benign
7	135045501	C	T	C135045501T	AGBL3	NM_178563.4(AGBL3):c.1655C>T:p.Thr552Met	coding	Benign
7	135080217	G	A	G135080217A	AGBL3	NM_178563.4(AGBL3):c.1995G>A:p.Gly665=	coding	Benign
7	135134832	C	A	C135134832A	AGBL3	NM_178563.4(AGBL3):c.2343-9C>A	noncoding	Benign
7	135166638	T	C	T135166638C	CYREN	NM_024033.3(CYREN):c.447A>G:p.Lys149=	coding	Benign
7	135193312	T	C	T135193312C	WDR91	NM_014149.4(WDR91):c.1578A>G:p.Ser526=	coding	Benign
7	135208930	C	T	C135208930T	WDR91	NM_014149.4(WDR91):c.372G>A:p.Glu124=	coding	Benign
7	135209569	C	T	C135209569T	WDR91	NM_014149.4(WDR91):c.303+7G>A	noncoding	Benign
7	135211475	C	A	C135211475A	WDR91	NM_014149.4(WDR91):c.28G>T:p.Glu10Ter	coding	Pathogenic
7	135577086	A	G	A135577086G	NUP205	NM_015135.3(NUP205):c.606A>G:p.Leu202=	coding	Benign
7	135577933	C	T	C135577933T	NUP205	NM_015135.3(NUP205):c.786C>T:p.Gly262=	coding	Benign
7	135577936	A	G	A135577936G	NUP205	NM_015135.3(NUP205):c.789A>G:p.Ser263=	coding	Benign
7	135584890	C	T	C135584890T	NUP205	NM_015135.3(NUP205):c.1101C>T:p.Asn367=	coding	Benign
7	135587580	A	G	A135587580G	NUP205	NM_015135.3(NUP205):c.1224A>G:p.Lys408=	coding	Benign
7	135593180	C	T	C135593180T	NUP205	NM_015135.3(NUP205):c.1818C>T:p.Thr606=	coding	Benign
7	135600959	G	A	G135600959A	NUP205	NM_015135.3(NUP205):c.2364G>A:p.Val788=	coding	Benign
7	135601423	C	T	C135601423T	NUP205	NM_015135.3(NUP205):c.2428C>T:p.Leu810=	coding	Benign
7	135616035	C	G	C135616035G	NUP205	NM_015135.3(NUP205):c.3430C>G:p.Leu1144Val	coding	Benign
7	135619803	A	G	A135619803G	NUP205	NM_015135.3(NUP205):c.4245A>G:p.Gln1415=	coding	Benign
7	135622871	C	T	C135622871T	NUP205	NM_015135.3(NUP205):c.4425C>T:p.Ala1475=	coding	Benign
7	135638676	G	A	G135638676A	NUP205	NM_015135.3(NUP205):c.5385G>A:p.Pro1795=	coding	Benign
7	135648501	T	C	T135648501C	NUP205	NM_015135.3(NUP205):c.5984T>C:p.Phe1995Ser	coding	Pathogenic
7	136869276	G	A	G136869276A	CHRM2	NM_000739.2(CHRM2):c.-267G>A	noncoding	Benign
7	136869413	C	T	C136869413T	CHRM2	NM_000739.2(CHRM2):c.-130C>T	noncoding	Benign
7	136992247	C	G	C136992247G	CHRM2	NM_000739.2(CHRM2):c.-64C>G	noncoding	Benign
7	137014514	G	T	G137014514T	CHRM2	NM_000739.2(CHRM2):c.-46-306G>T	noncoding	Benign
7	137014633	G	C	G137014633C	CHRM2	NM_000739.2(CHRM2):c.-46-187G>C	noncoding	Benign
7	137015321	C	T	C137015321T	CHRM2	NM_000739.2(CHRM2):c.456C>T:p.Phe152=	coding	Benign
7	137015414	T	C	T137015414C	CHRM2	NM_000739.2(CHRM2):c.549T>C:p.Asn183=	coding	Benign
7	137015459	A	G	A137015459G	CHRM2	NM_000739.2(CHRM2):c.594A>G:p.Pro198=	coding	Benign
7	137015556	G	A	G137015556A	CHRM2	NM_001006630.2(CHRM2):c.691G>A:p.Val231Ile	coding	Benign/Likely_benign
7	137015638	A	G	A137015638G	CHRM2	NM_001006630.2(CHRM2):c.773A>G:p.Asn258Ser	coding	Benign/Likely_benign
7	137015856	A	T	A137015856T	CHRM2	NM_001006630.2(CHRM2):c.991A>T:p.Thr331Ser	coding	Benign
7	137015915	A	G	A137015915G	CHRM2	NM_001006630.2(CHRM2):c.1050A>G:p.Ser350=	coding	Benign
7	137016062	T	C	T137016062C	CHRM2	NM_001006630.2(CHRM2):c.1197T>C:p.Thr399=	coding	Benign
7	137016561	T	A	T137016561A	CHRM2	NM_000739.2(CHRM2):c.*295T>A	noncoding	Benign
7	138091761	C	A	C138091761A	AKR1D1	NM_005989.4(AKR1D1):c.262-7C>A	noncoding	Benign/Likely_benign
7	138091773	G	A	G138091773A	AKR1D1	NM_005989.4(AKR1D1):c.267G>A:p.Trp89Ter	coding	Pathogenic
7	138091822	C	T	C138091822T	AKR1D1	NM_005989.4(AKR1D1):c.316C>T:p.Leu106Phe	coding	Pathogenic
7	138097885	C	G	C138097885G	AKR1D1	NM_005989.4(AKR1D1):c.398C>G:p.Pro133Arg	coding	Pathogenic
7	138105327	C	T	C138105327T	AKR1D1	NM_005989.4(AKR1D1):c.477C>T:p.Asp159=	coding	Benign
7	138107506	C	T	C138107506T	AKR1D1	NM_005989.4(AKR1D1):c.781C>T:p.Arg261Cys	coding	Pathogenic
7	138107521	C	T	C138107521T	AKR1D1	NM_005989.4(AKR1D1):c.796C>T:p.Arg266Ter	coding	Pathogenic
7	138113680	G	A	G138113680A	AKR1D1	NM_005989.4(AKR1D1):c.856-10G>A	noncoding	Benign
7	138116667	A	C	A138116667C	AKR1D1	NM_005989.4(AKR1D1):c.*5A>C	noncoding	Benign
7	138116698	C	T	C138116698T	AKR1D1	NM_005989.4(AKR1D1):c.*36C>T	noncoding	Benign
7	138116710	C	T	C138116710T	AKR1D1	NM_005989.4(AKR1D1):c.*48C>T	noncoding	Benign
7	138117024	A	C	A138117024C	AKR1D1	NM_005989.4(AKR1D1):c.*362A>C	noncoding	Benign
7	138117169	G	A	G138117169A	AKR1D1	NM_005989.4(AKR1D1):c.*507G>A	noncoding	Benign
7	138117541	T	C	T138117541C	AKR1D1	NM_005989.4(AKR1D1):c.*879T>C	noncoding	Benign
7	138117744	G	C	G138117744C	AKR1D1	NM_005989.4(AKR1D1):c.*1082G>C	noncoding	Benign
7	138117747	C	T	C138117747T	AKR1D1	NM_005989.4(AKR1D1):c.*1085C>T	noncoding	Benign
7	138117757	T	C	T138117757C	AKR1D1	NM_005989.4(AKR1D1):c.*1095T>C	noncoding	Benign
7	138118025	A	G	A138118025G	AKR1D1	NM_005989.4(AKR1D1):c.*1363A>G	noncoding	Benign
7	138118079	C	T	C138118079T	AKR1D1	NM_005989.4(AKR1D1):c.*1417C>T	noncoding	Benign
7	138118146	T	C	T138118146C	AKR1D1	NM_005989.4(AKR1D1):c.*1484T>C	noncoding	Benign
7	138580592	C	G	C138580592G	TRIM24	NM_015905.3(TRIM24):c.2616C>G:p.Asp872Glu	coding	Benign
7	138644827	G	A	G138644827A	SVOPL	NM_001139456.2(SVOPL):c.679C>T:p.Arg227Trp	coding	Benign
7	138649024	G	A	G138649024A	SVOPL	NM_001139456.2(SVOPL):c.648C>T:p.Ile216=	coding	Benign
7	138649074	C	T	C138649074T	SVOPL	NM_001139456.2(SVOPL):c.598G>A:p.Gly200Arg	coding	Benign
7	138706385	C	T	C138706385T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.*239G>A	noncoding	Benign
7	138706462	G	A	G138706462A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.*162C>T	noncoding	Benign
7	138706513	G	T	G138706513T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.*111C>A	noncoding	Benign
7	138706551	G	A	G138706551A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.*73C>T	noncoding	Benign
7	138706666	T	C	T138706666C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2481A>G:p.Pro827=	coding	Benign/Likely_benign
7	138706689	C	T	C138706689T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2458G>A:p.Gly820Arg	coding	Pathogenic
7	138709633	C	T	C138709633T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2420G>A:p.Arg807Gln	coding	Pathogenic
7	138709727	C	T	C138709727T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2326G>A:p.Val776Ile	coding	Benign
7	138709746	C	T	C138709746T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2307G>A:p.Thr769=	coding	Benign
7	138709747	G	A	G138709747A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2306C>T:p.Thr769Met	coding	Benign
7	138709796	C	T	C138709796T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2258-1G>A	coding	Pathogenic
7	138715764	G	A	G138715764A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2257C>T:p.Gln753Ter	coding	Pathogenic
7	138722001	C	A	C138722001A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2035G>T:p.Asp679Tyr	coding	Benign/Likely_benign
7	138722033	C	T	C138722033T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2011-8G>A	noncoding	Benign
7	138728815	C	T	C138728815T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1956G>A:p.Pro652=	coding	Benign
7	138732897	C	T	C138732897T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1888G>A:p.Ala630Thr	coding	Benign
7	138732937	G	A	G138732937A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1848C>T:p.Phe616=	coding	Benign
7	138732973	A	G	A138732973G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1812T>C:p.His604=	coding	Benign
7	138732979	G	A	G138732979A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1806C>T:p.Asp602=	coding	Benign
7	138733046	A	G	A138733046G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1739T>C:p.Met580Thr	coding	Benign
7	138734135	C	T	C138734135T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1691+1G>A	noncoding	Pathogenic
7	138734165	G	A	G138734165A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1662C>T:p.Phe554=	coding	Benign
7	138734186	C	T	C138734186T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1641G>A:p.Leu547=	coding	Benign
7	138739555	C	T	C138739555T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1557G>A:p.Pro519=	coding	Benign
7	138739606	A	T	A138739606T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1506T>A:p.Tyr502Ter	coding	Pathogenic
7	138739614	T	C	T138739614C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1498A>G:p.Ser500Gly	coding	Benign
7	138745106	T	C	T138745106C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1478+17A>G	noncoding	Benign
7	138745256	G	A	G138745256A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1345C>T:p.Arg449Cys	coding	Pathogenic
7	138747514	C	A	C138747514A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1231G>T:p.Asp411Tyr	coding	Pathogenic/Likely_pathogenic
7	138747568	C	T	C138747568T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1181-4G>A	noncoding	Benign
7	138749192	G	A	G138749192A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1155C>T:p.Val385=	coding	Benign
7	138749314	G	T	G138749314T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1033C>A:p.Leu345Ile	coding	Benign
7	138752620	C	T	C138752620T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1029+5G>A	noncoding	Benign
7	138755688	C	T	C138755688T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.816+1G>A	noncoding	Pathogenic
7	138755750	G	C	G138755750C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.755C>G:p.Pro252Arg	coding	Benign
7	138755770	A	G	A138755770G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.735T>C:p.Thr245=	coding	Benign
7	138762336	T	C	T138762336C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.512+4A>G	noncoding	Benign
7	138762435	C	T	C138762435T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.418-1G>A	coding	Pathogenic
7	138762886	C	G	C138762886G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.417+14G>C	noncoding	Benign
7	138762983	G	A	G138762983A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.334C>T:p.Gln112Ter	coding	Pathogenic
7	138771243	A	G	A138771243G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.5T>C:p.Val2Ala	coding	Benign
7	138786165	G	C	G138786165C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-25C>G	noncoding	Benign
7	138798050	G	A	G138798050A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-137C>T	noncoding	Benign
7	138798082	G	A	G138798082A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-169C>T	noncoding	Benign
7	138798112	G	A	G138798112A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-199C>T	coding	Benign
7	138838097	C	T	C138838097T	KIAA1549	NM_001164665.2(KIAA1549):c.5662G>A:p.Gly1888Ser	coding	Benign
7	138840211	G	T	G138840211T	KIAA1549	NM_001164665.2(KIAA1549):c.5520C>A:p.Ile1840=	coding	Benign
7	138852217	C	T	C138852217T	KIAA1549	NM_001164665.2(KIAA1549):c.5294+6G>A	noncoding	Benign
7	138861200	C	T	C138861200T	KIAA1549	NM_001164665.2(KIAA1549):c.5186G>A:p.Arg1729Lys	coding	Benign
7	138861229	G	A	G138861229A	KIAA1549	NM_001164665.2(KIAA1549):c.5157C>T:p.Pro1719=	coding	Benign
7	138869570	G	A	G138869570A	KIAA1549	NM_001164665.2(KIAA1549):c.4743C>T:p.Ser1581=	coding	Benign
7	138869597	G	A	G138869597A	KIAA1549	NM_001164665.2(KIAA1549):c.4716C>T:p.Ile1572=	coding	Benign
7	138869627	G	T	G138869627T	KIAA1549	NM_001164665.2(KIAA1549):c.4686C>A:p.His1562Gln	coding	Pathogenic
7	138869665	C	T	C138869665T	KIAA1549	NM_001164665.2(KIAA1549):c.4648G>A:p.Val1550Ile	coding	Benign
7	138871176	C	G	C138871176G	KIAA1549	NM_001164665.2(KIAA1549):c.4532G>C:p.Ser1511Thr	coding	Benign
7	138871280	C	T	C138871280T	KIAA1549	NM_001164665.2(KIAA1549):c.4428G>A:p.Pro1476=	coding	Benign
7	138871328	G	T	G138871328T	KIAA1549	NM_001164665.2(KIAA1549):c.4380C>A:p.His1460Gln	coding	Benign
7	138879626	C	G	C138879626G	KIAA1549	NM_001164665.2(KIAA1549):c.4257G>C:p.Thr1419=	coding	Benign
7	138881433	C	T	C138881433T	KIAA1549	NM_001164665.2(KIAA1549):c.4184G>A:p.Ser1395Asn	coding	Benign
7	138881453	C	T	C138881453T	KIAA1549	NM_001164665.2(KIAA1549):c.4164G>A:p.Ser1388=	coding	Benign
7	138881459	C	T	C138881459T	KIAA1549	NM_001164665.2(KIAA1549):c.4158G>A:p.Thr1386=	coding	Benign
7	138898968	A	G	A138898968G	KIAA1549	NM_001164665.2(KIAA1549):c.3834T>C:p.Gly1278=	coding	Benign
7	138906926	G	A	G138906926A	KIAA1549	NM_001164665.2(KIAA1549):c.3453C>T:p.Ile1151=	coding	Benign
7	138908982	T	C	T138908982C	KIAA1549	NM_001164665.2(KIAA1549):c.3276+9A>G	noncoding	Benign
7	138909072	G	A	G138909072A	KIAA1549	NM_001164665.2(KIAA1549):c.3195C>T:p.Thr1065=	coding	Benign
7	138911239	T	A	T138911239A	KIAA1549	NM_001164665.2(KIAA1549):c.3052A>T:p.Ile1018Leu	coding	Benign
7	138916827	G	A	G138916827A	KIAA1549	NM_001164665.2(KIAA1549):c.2799C>T:p.Val933=	coding	Benign
7	138916856	C	T	C138916856T	KIAA1549	NM_001164665.2(KIAA1549):c.2770G>A:p.Val924Met	coding	Benign
7	138916865	G	A	G138916865A	KIAA1549	NM_001164665.2(KIAA1549):c.2761C>T:p.Leu921=	coding	Benign
7	138916910	T	C	T138916910C	KIAA1549	NM_001164665.2(KIAA1549):c.2716A>G:p.Ser906Gly	coding	Benign
7	138916913	C	G	C138916913G	KIAA1549	NM_001164665.2(KIAA1549):c.2713G>C:p.Ala905Pro	coding	Benign
7	138916916	C	T	C138916916T	KIAA1549	NM_001164665.2(KIAA1549):c.2710G>A:p.Ala904Thr	coding	Benign
7	138916937	C	T	C138916937T	KIAA1549	NM_001164665.2(KIAA1549):c.2689G>A:p.Asp897Asn	coding	Benign
7	138916938	G	A	G138916938A	KIAA1549	NM_001164665.2(KIAA1549):c.2688C>T:p.Leu896=	coding	Benign
7	138916986	G	A	G138916986A	KIAA1549	NM_001164665.2(KIAA1549):c.2640C>T:p.Ser880=	coding	Benign
7	138917101	G	A	G138917101A	KIAA1549	NM_001164665.2(KIAA1549):c.2525C>T:p.Ala842Val	coding	Benign
7	138917103	G	A	G138917103A	KIAA1549	NM_001164665.2(KIAA1549):c.2523C>T:p.Asp841=	coding	Benign
7	138917521	A	T	A138917521T	KIAA1549	NM_001164665.2(KIAA1549):c.2105T>A:p.Leu702Gln	coding	Benign
7	138917824	G	A	G138917824A	KIAA1549	NM_001164665.2(KIAA1549):c.1802C>T:p.Ser601Leu	coding	Benign
7	138917857	G	A	G138917857A	KIAA1549	NM_001164665.2(KIAA1549):c.1769C>T:p.Thr590Met	coding	Benign
7	138917880	G	A	G138917880A	KIAA1549	NM_001164665.2(KIAA1549):c.1746C>T:p.Ala582=	coding	Benign
7	138917886	C	T	C138917886T	KIAA1549	NM_001164665.2(KIAA1549):c.1740G>A:p.Ser580=	coding	Benign
7	138917970	G	A	G138917970A	KIAA1549	NM_001164665.2(KIAA1549):c.1656C>T:p.Ser552=	coding	Benign
7	138917974	G	C	G138917974C	KIAA1549	NM_001164665.2(KIAA1549):c.1652C>G:p.Ser551Cys	coding	Benign
7	138918227	C	T	C138918227T	KIAA1549	NM_001164665.2(KIAA1549):c.1399G>A:p.Val467Ile	coding	Benign
7	138918282	G	A	G138918282A	KIAA1549	NM_001164665.2(KIAA1549):c.1344C>T:p.Ala448=	coding	Benign
7	138918471	G	A	G138918471A	KIAA1549	NM_001164665.2(KIAA1549):c.1155C>T:p.Ser385=	coding	Benign
7	138918503	T	C	T138918503C	KIAA1549	NM_001164665.2(KIAA1549):c.1123A>G:p.Thr375Ala	coding	Benign
7	138918668	C	T	C138918668T	KIAA1549	NM_001164665.2(KIAA1549):c.958G>A:p.Asp320Asn	coding	Benign
7	138918741	G	A	G138918741A	KIAA1549	NM_001164665.2(KIAA1549):c.885C>T:p.Asp295=	coding	Benign
7	138918751	G	A	G138918751A	KIAA1549	NM_001164665.2(KIAA1549):c.875C>T:p.Pro292Leu	coding	Benign
7	138918807	T	C	T138918807C	KIAA1549	NM_001164665.2(KIAA1549):c.819A>G:p.Leu273=	coding	Benign
7	138918916	C	A	C138918916A	KIAA1549	NM_001164665.2(KIAA1549):c.710G>T:p.Arg237Leu	coding	Benign
7	138918966	C	T	C138918966T	KIAA1549	NM_001164665.2(KIAA1549):c.660G>A:p.Ala220=	coding	Benign
7	138918968	C	G	C138918968G	KIAA1549	NM_001164665.2(KIAA1549):c.658G>C:p.Ala220Pro	coding	Benign
7	138919164	G	A	G138919164A	KIAA1549	NM_001164665.2(KIAA1549):c.462C>T:p.Asp154=	coding	Benign
7	138919222	G	T	G138919222T	KIAA1549	NM_001164665.2(KIAA1549):c.404C>A:p.Pro135His	coding	Benign
7	138919365	G	A	G138919365A	KIAA1549	NM_001164665.2(KIAA1549):c.261C>T:p.His87=	coding	Benign
7	139055274	C	T	C139055274T	ZC3HAV1	NM_020119.4(ZC3HAV1):c.2118G>A:p.Ser706=	coding	Benign
7	139076342	C	T	C139076342T	ZC3HAV1	NM_020119.4(ZC3HAV1):c.1641G>A:p.Thr547=	coding	Benign
7	139231908	G	T	G139231908T	UBN2	NM_173569.4(UBN2):c.424G>T:p.Val142Leu	coding	Benign
7	139231935	C	T	C139231935T	UBN2	NM_173569.4(UBN2):c.451C>T:p.Leu151=	coding	Benign
7	139231951	G	C	G139231951C	UBN2	NM_173569.4(UBN2):c.467G>C:p.Arg156Pro	coding	Benign
7	139252054	G	A	G139252054A	UBN2	NM_173569.4(UBN2):c.660G>A:p.Glu220=	coding	Benign
7	139261550	A	G	A139261550G	UBN2	NM_173569.4(UBN2):c.1204A>G:p.Met402Val	coding	Benign
7	139261639	C	G	C139261639G	UBN2	NM_173569.4(UBN2):c.1293C>G:p.Thr431=	coding	Benign
7	139283666	T	G	T139283666G	UBN2	NM_173569.4(UBN2):c.2761T>G:p.Ser921Ala	coding	Benign
7	139293933	A	G	A139293933G	UBN2	NM_173569.4(UBN2):c.3946A>G:p.Thr1316Ala	coding	Benign
7	139872333	G	A	G139872333A	TBXAS1	NM_001061.6(TBXAS1):c.183+5G>A	noncoding	Benign
7	139875609	C	T	C139875609T	TBXAS1	NM_001061.6(TBXAS1):c.208C>T:p.Leu70Phe	coding	Benign
7	139936214	G	A	G139936214A	TBXAS1	NM_001061.6(TBXAS1):c.357G>A:p.Ser119=	coding	Benign
7	139936304	C	T	C139936304T	TBXAS1	NM_001061.7(TBXAS1):c.447C>T:p.Asn149=	coding	Benign
7	139957714	A	G	A139957714G	TBXAS1	NM_001061.7(TBXAS1):c.769A>G:p.Lys257Glu	coding	Benign
7	139961979	G	A	G139961979A	TBXAS1	NM_001061.7(TBXAS1):c.880G>A:p.Val294Met	coding	Benign
7	139962165	C	G	C139962165G	TBXAS1	NM_001061.6(TBXAS1):c.1066C>G:p.Leu356Val	coding	Benign
7	140007159	G	A	G140007159A	TBXAS1	NM_001061.7(TBXAS1):c.1203G>A:p.Leu401=	coding	Benign
7	140015742	C	G	C140015742G	TBXAS1	NM_001061.7(TBXAS1):c.1246C>G:p.Gln416Glu	coding	Benign
7	140015750	C	T	C140015750T	TBXAS1	NM_001061.7(TBXAS1):c.1254C>T:p.Cys418=	coding	Benign
7	140015781	G	A	G140015781A	TBXAS1	NM_001061.7(TBXAS1):c.1285G>A:p.Ala429Thr	coding	Benign
7	140015798	C	T	C140015798T	TBXAS1	NM_001061.7(TBXAS1):c.1302C>T:p.Ala434=	coding	Benign
7	140015841	G	A	G140015841A	TBXAS1	NM_001061.6(TBXAS1):c.1345G>A:p.Glu449Lys	coding	Benign
7	140017747	G	T	G140017747T	TBXAS1	NM_030984.5(TBXAS1):c.1364+1887G>T	coding	Pathogenic
7	140017766	T	C	T140017766C	TBXAS1	NM_030984.5(TBXAS1):c.1364+1906T>C	coding	Pathogenic
7	140037782	C	A	C140037782A	PARP12	NM_022750.4(PARP12):c.1257G>T:p.Gly419=	coding	Benign
7	140041773	G	A	G140041773A	PARP12	NM_022750.4(PARP12):c.1053C>T:p.Tyr351=	coding	Benign
7	140058002	G	A	G140058002A	PARP12	NM_022750.4(PARP12):c.359C>T:p.Thr120Ile	coding	Benign
7	140348645	G	A	G140348645A	SLC37A3	NM_207113.3(SLC37A3):c.1005C>T:p.Tyr335=	coding	Benign
7	140351264	G	A	G140351264A	SLC37A3	NM_207113.3(SLC37A3):c.882+9C>T	noncoding	Benign
7	140351316	G	A	G140351316A	SLC37A3	NM_207113.3(SLC37A3):c.839C>T:p.Ala280Val	coding	Benign
7	140369626	G	T	G140369626T	SLC37A3	NM_207113.3(SLC37A3):c.255C>A:p.Gly85=	coding	Benign
7	140734210	C	T	C140734210T	BRAF	NM_004333.6(BRAF):c.*387G>A	noncoding	Benign
7	140734486	G	A	G140734486A	BRAF	NM_004333.6(BRAF):c.*111C>T	noncoding	Benign/Likely_benign
7	140734663	T	C	T140734663C	BRAF	NM_001374258.1(BRAF):c.2355A>G:p.Leu785=	coding	Benign
7	140734762	G	A	G140734762A	BRAF	NM_001374258.1(BRAF):c.2256C>T:p.Ala752=	coding	Benign/Likely_benign
7	140734774	C	A	C140734774A	BRAF	NM_004333.6(BRAF):c.2128-4G>T	noncoding	Benign/Likely_benign
7	140734786	G	A	G140734786A	BRAF	NM_004333.6(BRAF):c.2128-16C>T	noncoding	Benign
7	140739515	T	G	T140739515G	BRAF	NM_004333.6(BRAF):c.2127+297A>C	noncoding	Benign
7	140739809	T	C	T140739809C	BRAF	NM_001374258.1(BRAF):c.2247+3A>G	noncoding	Benign
7	140740244	A	G	A140740244G	BRAF	NM_004333.6(BRAF):c.1993-298T>C	noncoding	Benign
7	140749271	C	G	C140749271G	BRAF	NM_001374258.1(BRAF):c.2112+16G>C	noncoding	Benign
7	140749271	C	T	C140749271T	BRAF	NM_004333.6(BRAF):c.1992+16G>A	noncoding	Benign
7	140749350	T	C	T140749350C	BRAF	NM_001374258.1(BRAF):c.2049A>G:p.Gly683=	coding	Benign
7	140749365	A	C	A140749365C	BRAF	NM_001374258.1(BRAF):c.2034T>G:p.Asp678Glu	coding	Pathogenic
7	140749365	A	T	A140749365T	BRAF	NM_004333.6(BRAF):c.1914T>A:p.Asp638Glu	coding	Pathogenic/Likely_pathogenic
7	140749373	G	A	G140749373A	BRAF	NM_004333.6(BRAF):c.1906C>T:p.Gln636Ter	coding	Pathogenic
7	140753333	T	G	T140753333G	BRAF	NM_001374258.1(BRAF):c.1922A>C:p.Lys641Thr	coding	Pathogenic/Likely_pathogenic
7	140753334	T	C	T140753334C	BRAF	NM_001374258.1(BRAF):c.1921A>G:p.Lys641Glu	coding	Pathogenic
7	140753334	T	G	T140753334G	BRAF	NM_001374258.1(BRAF):c.1921A>C:p.Lys641Gln	coding	Pathogenic
7	140753336	A	C	A140753336C	BRAF	NM_004333.6(BRAF):c.1799T>G:p.Val600Gly	coding	Pathogenic
7	140753337	C	G	C140753337G	BRAF	NM_004333.6(BRAF):c.1798G>C:p.Val600Leu	coding	Pathogenic
7	140753339	G	A	G140753339A	BRAF	NM_004333.6(BRAF):c.1796C>T:p.Thr599Ile	coding	Pathogenic
7	140753339	G	C	G140753339C	BRAF	NM_004333.6(BRAF):c.1796C>G:p.Thr599Arg	coding	Pathogenic
7	140753345	A	C	A140753345C	BRAF	NM_004333.6(BRAF):c.1790T>G:p.Leu597Arg	coding	Pathogenic/Likely_pathogenic
7	140753345	A	T	A140753345T	BRAF	NM_001374258.1(BRAF):c.1910T>A:p.Leu637Gln	coding	Pathogenic/Likely_pathogenic
7	140753346	G	C	G140753346C	BRAF	NM_001374258.1(BRAF):c.1909C>G:p.Leu637Val	coding	Pathogenic
7	140753348	C	A	C140753348A	BRAF	NM_001374258.1(BRAF):c.1907G>T:p.Gly636Val	coding	Pathogenic
7	140753349	C	G	C140753349G	BRAF	NM_004333.6(BRAF):c.1786G>C:p.Gly596Arg	coding	Pathogenic/Likely_pathogenic
7	140753350	A	C	A140753350C	BRAF	NM_001374258.1(BRAF):c.1905T>G:p.Phe635Leu	coding	Pathogenic
7	140753350	A	T	A140753350T	BRAF	NM_004333.6(BRAF):c.1785T>A:p.Phe595Leu	coding	Pathogenic
7	140753352	A	G	A140753352G	BRAF	NM_001374258.1(BRAF):c.1903T>C:p.Phe635Leu	coding	Pathogenic/Likely_pathogenic
7	140753353	A	C	A140753353C	BRAF	NM_004333.6(BRAF):c.1782T>G:p.Asp594Glu	coding	Pathogenic/Likely_pathogenic
7	140753353	A	T	A140753353T	BRAF	NM_004333.6(BRAF):c.1782T>A:p.Asp594Glu	coding	Pathogenic
7	140753354	T	A	T140753354A	BRAF	NM_004333.6(BRAF):c.1781A>T:p.Asp594Val	coding	Pathogenic
7	140753355	C	G	C140753355G	BRAF	NM_004333.6(BRAF):c.1780G>C:p.Asp594His	coding	Pathogenic/Likely_pathogenic
7	140753392	A	T	A140753392T	BRAF	NM_001374258.1(BRAF):c.1863T>A:p.Asn621Lys	coding	Pathogenic/Likely_pathogenic
7	140753658	G	A	G140753658A	BRAF	NM_004333.6(BRAF):c.1742-265C>T	noncoding	Benign
7	140754187	T	C	T140754187C	BRAF	NM_001374258.1(BRAF):c.1861A>G:p.Asn621Asp	coding	Pathogenic
7	140754206	G	C	G140754206C	BRAF	NM_004333.6(BRAF):c.1722C>G:p.His574Gln	coding	Pathogenic/Likely_pathogenic
7	140754206	G	T	G140754206T	BRAF	NM_004333.6(BRAF):c.1722C>A:p.His574Gln	coding	Pathogenic
7	140754208	G	A	G140754208A	BRAF	NM_001374258.1(BRAF):c.1840C>T:p.His614Tyr	coding	Pathogenic
7	140776670	T	A	T140776670A	BRAF	NM_004333.6(BRAF):c.1694+242A>T	noncoding	Benign
7	140777006	C	G	C140777006G	BRAF	NM_001374258.1(BRAF):c.1720G>C:p.Gly574Arg	coding	Pathogenic/Likely_pathogenic
7	140777013	C	A	C140777013A	BRAF	NM_004333.6(BRAF):c.1593G>T:p.Trp531Cys	coding	Pathogenic
7	140777013	C	G	C140777013G	BRAF	NM_004333.6(BRAF):c.1593G>C:p.Trp531Cys	coding	Pathogenic
7	140777014	C	G	C140777014G	BRAF	NM_001374258.1(BRAF):c.1712G>C:p.Trp571Ser	coding	Pathogenic
7	140777032	A	G	A140777032G	BRAF	NM_004333.6(BRAF):c.1574T>C:p.Leu525Pro	coding	Pathogenic/Likely_pathogenic
7	140777032	A	T	A140777032T	BRAF	NM_004333.6(BRAF):c.1574T>A:p.Leu525Gln	coding	Pathogenic
7	140777136	G	A	G140777136A	BRAF	NM_004333.6(BRAF):c.1518-48C>T	noncoding	Benign
7	140777206	A	T	A140777206T	BRAF	NM_004333.6(BRAF):c.1518-118T>A	noncoding	Benign
7	140777956	C	G	C140777956G	BRAF	NM_004333.6(BRAF):c.1517+35G>C	noncoding	Benign
7	140777971	A	G	A140777971G	BRAF	NM_004333.6(BRAF):c.1517+20T>C	noncoding	Benign
7	140777995	G	A	G140777995A	BRAF	NM_004333.6(BRAF):c.1513C>T:p.Leu505Phe	coding	Pathogenic
7	140778006	T	A	T140778006A	BRAF	NM_001374258.1(BRAF):c.1622A>T:p.Glu541Val	coding	Pathogenic/Likely_pathogenic
7	140778006	T	C	T140778006C	BRAF	NM_001374258.1(BRAF):c.1622A>G:p.Glu541Gly	coding	Pathogenic/Likely_pathogenic
7	140778006	T	G	T140778006G	BRAF	NM_004333.6(BRAF):c.1502A>C:p.Glu501Ala	coding	Pathogenic
7	140778007	C	T	C140778007T	BRAF	NM_001374258.1(BRAF):c.1621G>A:p.Glu541Lys	coding	Pathogenic/Likely_pathogenic
7	140778011	T	A	T140778011A	BRAF	NM_004333.6(BRAF):c.1497A>T:p.Lys499Asn	coding	Pathogenic
7	140778011	T	G	T140778011G	BRAF	NM_004333.6(BRAF):c.1497A>C:p.Lys499Asn	coding	Pathogenic/Likely_pathogenic
7	140778013	T	C	T140778013C	BRAF	NM_004333.6(BRAF):c.1495A>G:p.Lys499Glu	coding	Pathogenic/Likely_pathogenic
7	140778048	A	C	A140778048C	BRAF	NM_001374258.1(BRAF):c.1580T>G:p.Val527Gly	coding	Pathogenic/Likely_pathogenic
7	140778053	C	A	C140778053A	BRAF	NM_001374258.1(BRAF):c.1575G>T:p.Leu525Phe	coding	Pathogenic
7	140778053	C	G	C140778053G	BRAF	NM_001374258.1(BRAF):c.1575G>C:p.Leu525Phe	coding	Pathogenic
7	140778080	A	G	A140778080G	BRAF	NM_004333.6(BRAF):c.1433-5T>C	noncoding	Benign/Likely_benign
7	140778094	T	C	T140778094C	BRAF	NM_001374258.1(BRAF):c.1553-19A>G	noncoding	Benign
7	140781593	T	C	T140781593C	BRAF	NM_004333.6(BRAF):c.1415A>G:p.Tyr472Cys	coding	Pathogenic
7	140781602	C	A	C140781602A	BRAF	NM_001374258.1(BRAF):c.1526G>T:p.Gly509Val	coding	Pathogenic
7	140781602	C	G	C140781602G	BRAF	NM_001374258.1(BRAF):c.1526G>C:p.Gly509Ala	coding	Pathogenic
7	140781602	C	T	C140781602T	BRAF	NM_001374258.1(BRAF):c.1526G>A:p.Gly509Glu	coding	Pathogenic
7	140781603	C	G	C140781603G	BRAF	NM_004333.6(BRAF):c.1405G>C:p.Gly469Arg	coding	Pathogenic
7	140781605	A	G	A140781605G	BRAF	NM_001374258.1(BRAF):c.1523T>C:p.Phe508Ser	coding	Pathogenic
7	140781609	A	C	A140781609C	BRAF	NM_004333.6(BRAF):c.1399T>G:p.Ser467Ala	coding	Pathogenic
7	140781611	C	A	C140781611A	BRAF	NM_001374258.1(BRAF):c.1517G>T:p.Gly506Val	coding	Pathogenic/Likely_pathogenic
7	140781617	C	A	C140781617A	BRAF	NM_001374258.1(BRAF):c.1511G>T:p.Gly504Val	coding	Pathogenic/Likely_pathogenic
7	140781617	C	T	C140781617T	BRAF	NM_001374258.1(BRAF):c.1511G>A:p.Gly504Glu	coding	Pathogenic
7	140781618	C	G	C140781618G	BRAF	NM_004333.6(BRAF):c.1390G>C:p.Gly464Arg	coding	Pathogenic
7	140781618	C	T	C140781618T	BRAF	NM_004333.6(BRAF):c.1390G>A:p.Gly464Arg	coding	Pathogenic
7	140781620	A	C	A140781620C	BRAF	NM_004333.6(BRAF):c.1388T>G:p.Ile463Ser	coding	Pathogenic
7	140781623	C	A	C140781623A	BRAF	NM_004333.6(BRAF):c.1385G>T:p.Arg462Ile	coding	Pathogenic
7	140781625	T	C	T140781625C	BRAF	NM_001374258.1(BRAF):c.1503A>G:p.Gln501=	coding	Benign
7	140781676	C	T	C140781676T	BRAF	NM_001374258.1(BRAF):c.1452G>A:p.Arg484=	coding	Benign
7	140781711	A	C	A140781711C	BRAF	NM_004333.6(BRAF):c.1315-18T>G	noncoding	Benign
7	140783058	C	G	C140783058G	BRAF	NM_001374258.1(BRAF):c.1397G>C:p.Arg466Thr	coding	Pathogenic
7	140783108	T	C	T140783108C	BRAF	NM_001374258.1(BRAF):c.1347A>G:p.Ser449=	coding	Benign
7	140783431	A	T	A140783431T	BRAF	NM_004333.6(BRAF):c.1178-274T>A	noncoding	Benign
7	140787402	C	T	C140787402T	BRAF	NM_004333.6(BRAF):c.1177+146G>A	noncoding	Benign
7	140787575	T	C	T140787575C	BRAF	NM_004333.6(BRAF):c.1150A>G:p.Arg384Gly	coding	Benign
7	140787603	G	A	G140787603A	BRAF	NM_004333.6(BRAF):c.1141-19C>T	noncoding	Benign
7	140794380	T	C	T140794380C	BRAF	NM_001374258.1(BRAF):c.1068A>G:p.Gln356=	coding	Benign
7	140794487	G	A	G140794487A	BRAF	NM_004333.6(BRAF):c.981-20C>T	noncoding	Benign
7	140800335	C	T	C140800335T	BRAF	NM_004333.6(BRAF):c.980+27G>A	noncoding	Benign
7	140800366	T	C	T140800366C	BRAF	NM_004333.6(BRAF):c.976A>G:p.Ile326Val	coding	Benign
7	140800374	G	A	G140800374A	BRAF	NM_001374258.1(BRAF):c.968C>T:p.Ser323Leu	coding	Benign
7	140800391	G	T	G140800391T	BRAF	NM_004333.6(BRAF):c.951C>A:p.Ser317=	coding	Benign
7	140801487	T	G	T140801487G	BRAF	NM_001374258.1(BRAF):c.785A>C:p.Gln262Pro	coding	Pathogenic/Likely_pathogenic
7	140801488	G	T	G140801488T	BRAF	NM_004333.6(BRAF):c.784C>A:p.Gln262Lys	coding	Pathogenic/Likely_pathogenic
7	140801502	T	C	T140801502C	BRAF	NM_001374258.1(BRAF):c.770A>G:p.Gln257Arg	coding	Pathogenic
7	140801503	G	T	G140801503T	BRAF	NM_001374258.1(BRAF):c.769C>A:p.Gln257Lys	coding	Pathogenic/Likely_pathogenic
7	140801517	C	G	C140801517G	BRAF	NM_004333.6(BRAF):c.755G>C:p.Arg252Pro	coding	Pathogenic/Likely_pathogenic
7	140801519	A	G	A140801519G	BRAF	NM_004333.6(BRAF):c.753T>C:p.Cys251=	coding	Benign
7	140801531	A	C	A140801531C	BRAF	NM_004333.6(BRAF):c.741T>G:p.Phe247Leu	coding	Pathogenic
7	140801533	A	G	A140801533G	BRAF	NM_004333.6(BRAF):c.739T>C:p.Phe247Leu	coding	Pathogenic
7	140801536	C	G	C140801536G	BRAF	NM_001374258.1(BRAF):c.736G>C:p.Ala246Pro	coding	Pathogenic
7	140801537	T	A	T140801537A	BRAF	NM_001374258.1(BRAF):c.735A>T:p.Leu245Phe	coding	Pathogenic
7	140801537	T	G	T140801537G	BRAF	NM_001374258.1(BRAF):c.735A>C:p.Leu245Phe	coding	Pathogenic
7	140801542	T	G	T140801542G	BRAF	NM_001374258.1(BRAF):c.730A>C:p.Thr244Pro	coding	Pathogenic
7	140801549	C	T	C140801549T	BRAF	NM_004333.6(BRAF):c.723G>A:p.Thr241=	coding	Benign/Likely_benign
7	140801550	G	A	G140801550A	BRAF	NM_001374258.1(BRAF):c.722C>T:p.Thr241Met	coding	Pathogenic/Likely_pathogenic
7	140801550	G	C	G140801550C	BRAF	NM_004333.6(BRAF):c.722C>G:p.Thr241Arg	coding	Pathogenic
7	140801550	G	T	G140801550T	BRAF	NM_001374258.1(BRAF):c.722C>A:p.Thr241Lys	coding	Pathogenic
7	140801551	T	G	T140801551G	BRAF	NM_001374258.1(BRAF):c.721A>C:p.Thr241Pro	coding	Pathogenic/Likely_pathogenic
7	140801578	A	G	A140801578G	BRAF	NM_004333.6(BRAF):c.712-18T>C	noncoding	Benign
7	140801600	A	T	A140801600T	BRAF	NM_004333.6(BRAF):c.712-40T>A	noncoding	Benign
7	140807963	G	A	G140807963A	BRAF	NM_001374258.1(BRAF):c.708C>T:p.Asn236=	coding	Benign
7	140808873	C	G	C140808873G	BRAF	NM_004333.6(BRAF):c.608+19G>C	noncoding	Benign
7	140808878	C	T	C140808878T	BRAF	NM_004333.6(BRAF):c.608+14G>A	noncoding	Benign
7	140809167	T	G	T140809167G	BRAF	NM_004333.6(BRAF):c.505-172A>C	noncoding	Benign
7	140834467	C	T	C140834467T	BRAF	NM_004333.6(BRAF):c.504+142G>A	noncoding	Benign
7	140834714	T	C	T140834714C	BRAF	NM_004333.6(BRAF):c.399A>G:p.Ser133=	coding	Benign/Likely_benign
7	140834738	A	C	A140834738C	BRAF	NM_001374258.1(BRAF):c.375T>G:p.Ser125=	coding	Benign
7	140850093	T	C	T140850093C	BRAF	NM_004333.6(BRAF):c.240+18A>G	noncoding	Benign
7	140924626	C	A	C140924626A	BRAF	NM_001374258.1(BRAF):c.78G>T:p.Glu26Asp	coding	Benign/Likely_benign
7	140924640	C	T	C140924640T	BRAF	NM_001374258.1(BRAF):c.64G>A:p.Asp22Asn	coding	Benign
7	140924668	C	T	C140924668T	BRAF	NM_004333.6(BRAF):c.36G>A:p.Ala12=	coding	Benign
7	140924708	T	C	T140924708C	BRAF	NM_004333.6(BRAF):c.-5A>G	noncoding	Benign/Likely_benign
7	140924721	G	C	G140924721C	BRAF	NM_004333.6(BRAF):c.-18C>G	noncoding	Benign
7	140924722	G	A	G140924722A	BRAF	NM_001374258.1(BRAF):c.-19C>T	noncoding	Benign/Likely_benign
7	141555184	A	G	A141555184G	AGK	NM_018238.4(AGK):c.-14-269A>G	noncoding	Benign
7	141555469	G	C	G141555469C	AGK	NM_018238.4(AGK):c.3G>C:p.Met1Ile	coding	Pathogenic
7	141555483	A	G	A141555483G	AGK	NM_018238.4(AGK):c.17A>G:p.Lys6Arg	coding	Benign/Likely_benign
7	141555572	C	T	C141555572T	AGK	NM_018238.4(AGK):c.101+5C>T	noncoding	Benign
7	141593145	G	T	G141593145T	AGK	NM_018238.4(AGK):c.102-1G>T	noncoding	Pathogenic
7	141593187	T	C	T141593187C	AGK	NM_018238.4(AGK):c.141+2T>C	noncoding	Pathogenic
7	141601282	T	C	T141601282C	AGK	NM_018238.4(AGK):c.297+2T>C	noncoding	Pathogenic
7	141611193	A	G	A141611193G	AGK	NM_018238.4(AGK):c.298-2A>G	noncoding	Pathogenic
7	141611203	T	G	T141611203G	AGK	NM_018238.4(AGK):c.306T>G:p.Tyr102Ter	coding	Pathogenic
7	141611288	G	T	G141611288T	AGK	NM_018238.4(AGK):c.390+1G>T	coding	Pathogenic
7	141614164	C	T	C141614164T	AGK	NM_018238.4(AGK):c.409C>T:p.Arg137Ter	coding	Pathogenic
7	141615466	C	T	C141615466T	AGK	NM_018238.4(AGK):c.424-5C>T	noncoding	Benign/Likely_benign
7	141615467	C	A	C141615467A	AGK	NM_018238.4(AGK):c.424-4C>A	noncoding	Benign
7	141615467	C	G	C141615467G	AGK	NM_018238.4(AGK):c.424-4C>G	noncoding	Benign/Likely_benign
7	141615468	C	G	C141615468G	AGK	NM_018238.4(AGK):c.424-3C>G	noncoding	Pathogenic
7	141615564	C	T	C141615564T	AGK	NM_018238.4(AGK):c.517C>T:p.Gln173Ter	coding	Pathogenic
7	141615583	G	A	G141615583A	AGK	NM_018238.4(AGK):c.518+18G>A	noncoding	Benign
7	141622012	A	T	A141622012T	AGK	NM_018238.4(AGK):c.588+211A>T	noncoding	Benign
7	141636748	G	A	G141636748A	AGK	NM_018238.4(AGK):c.669-212G>A	noncoding	Benign
7	141636963	C	A	C141636963A	AGK	NM_018238.4(AGK):c.672C>A:p.Tyr224Ter	coding	Pathogenic
7	141636963	C	G	C141636963G	AGK	NM_018238.4(AGK):c.672C>G:p.Tyr224Ter	coding	Pathogenic
7	141637174	G	A	G141637174A	AGK	NM_018238.4(AGK):c.726+157G>A	noncoding	Benign
7	141637204	T	C	T141637204C	AGK	NM_018238.4(AGK):c.726+187T>C	noncoding	Benign
7	141641325	C	T	C141641325T	AGK	NM_018238.4(AGK):c.804C>T:p.Thr268=	coding	Benign/Likely_benign
7	141641362	C	T	C141641362T	AGK	NM_018238.4(AGK):c.841C>T:p.Arg281Ter	coding	Pathogenic
7	141641909	G	T	G141641909T	AGK	NM_018238.4(AGK):c.975+1G>T	coding	Pathogenic
7	141651290	A	G	A141651290G	AGK	NM_018238.4(AGK):c.1047-235A>G	noncoding	Benign
7	141651523	A	T	A141651523T	AGK	NM_018238.4(AGK):c.1047-2A>T	noncoding	Pathogenic
7	141651614	G	A	G141651614A	AGK	NM_018238.4(AGK):c.1131+5G>A	noncoding	Pathogenic
7	141652825	T	G	T141652825G	AGK	NM_018238.4(AGK):c.1170T>G:p.Tyr390Ter	coding	Pathogenic
7	141653065	C	T	C141653065T	AGK	NM_018238.4(AGK):c.*141C>T	noncoding	Benign
7	141653108	C	T	C141653108T	AGK	NM_018238.4(AGK):c.*184C>T	noncoding	Benign
7	141653244	G	A	G141653244A	AGK	NM_018238.4(AGK):c.*320G>A	noncoding	Benign
7	141654099	C	T	C141654099T	AGK	NM_018238.4(AGK):c.*1175C>T	noncoding	Benign
7	141654134	A	T	A141654134T	AGK	NM_018238.4(AGK):c.*1210A>T	noncoding	Benign
7	141714379	T	C	T141714379C	WEE2	NM_001105558.1(WEE2):c.513T>C:p.Gly171=	coding	Benign
7	141719084	C	T	C141719084T	WEE2	NM_001105558.1(WEE2):c.598C>T:p.Arg200Ter	coding	Pathogenic
7	141719186	G	C	G141719186C	WEE2	NM_001105558.1(WEE2):c.700G>C:p.Asp234His	coding	Pathogenic
7	141723126	T	C	T141723126C	WEE2	NM_001105558.1(WEE2):c.881-8T>C	noncoding	Benign
7	141725032	C	T	C141725032T	WEE2	NM_001105558.1(WEE2):c.1228C>T:p.Arg410Trp	coding	Pathogenic
7	141729571	T	G	T141729571G	WEE2	NM_001105558.1(WEE2):c.1576T>G:p.Tyr526Asp	coding	Benign
7	141743588	G	A	G141743588A	SSBP1	NM_003143.3(SSBP1):c.113G>A:p.Arg38Gln	coding	Pathogenic
7	141743594	G	T	G141743594T	SSBP1	NM_003143.3(SSBP1):c.119G>T:p.Gly40Val	coding	Pathogenic
7	141745501	G	A	G141745501A	SSBP1	NM_003143.3(SSBP1):c.320G>A:p.Arg107Gln	coding	Pathogenic
7	141750329	G	A	G141750329A	SSBP1	NM_003143.3(SSBP1):c.422G>A:p.Ser141Asn	coding	Pathogenic
7	141778497	G	C	G141778497C	TAS2R4	NM_016944.2(TAS2R4):c.9G>C:p.Arg3=	coding	Benign
7	141778505	A	C	A141778505C	TAS2R4	NM_016944.2(TAS2R4):c.17A>C:p.Tyr6Ser	coding	Benign
7	142050801	A	C	A142050801C	MGAM	NM_001365693.1(MGAM):c.2742A>C:p.Thr914=	coding	Benign
7	142052399	A	G	A142052399G	MGAM	NM_001365693.1(MGAM):c.2911A>G:p.Asn971Asp	coding	Benign
7	142063511	C	A	C142063511A	MGAM	NM_001365693.1(MGAM):c.4270C>A:p.Pro1424Thr	coding	Benign
7	142064493	T	C	T142064493C	MGAM	NM_001365693.1(MGAM):c.4455T>C:p.Tyr1485=	coding	Benign
7	142065434	G	A	G142065434A	MGAM	NM_001365693.1(MGAM):c.4584G>A:p.Thr1528=	coding	Benign
7	142094612	C	T	C142094612T	MGAM	NM_001365693.1(MGAM):c.7307-8C>T	noncoding	Benign
7	142094642	C	T	C142094642T	MGAM	NM_001365693.1(MGAM):c.7329C>T:p.Phe2443=	coding	Benign
7	142095604	A	G	A142095604G	MGAM	NM_001365693.1(MGAM):c.7498A>G:p.Ile2500Val	coding	Benign
7	142095677	C	T	C142095677T	MGAM	NM_001365693.1(MGAM):c.7571C>T:p.Thr2524Met	coding	Benign
7	142096331	G	A	G142096331A	MGAM	NM_001365693.1(MGAM):c.7608G>A:p.Glu2536=	coding	Benign
7	142749534	A	G	A142749534G	PRSS1	NM_002769.5(PRSS1):c.40+10A>G	noncoding	Benign
7	142750586	C	T	C142750586T	PRSS1	NM_002769.5(PRSS1):c.72C>T:p.Ile24=	coding	Benign
7	142750600	A	C	A142750600C	PRSS1	NM_002769.5(PRSS1):c.86A>C:p.Asn29Thr	coding	Benign
7	142750600	A	T	A142750600T	PRSS1	NM_002769.5(PRSS1):c.86A>T:p.Asn29Ile	coding	Pathogenic
7	142750635	C	T	C142750635T	PRSS1	NM_002769.5(PRSS1):c.121C>T:p.Leu41=	coding	Benign/Likely_benign
7	142750660	G	T	G142750660T	PRSS1	NM_002769.5(PRSS1):c.146G>T:p.Gly49Val	coding	Benign
7	142750675	A	G	A142750675G	PRSS1	NM_002769.5(PRSS1):c.161A>G:p.Asn54Ser	coding	Benign
7	142750731	C	T	C142750731T	PRSS1	NM_002769.5(PRSS1):c.200+17C>T	noncoding	Benign
7	142751852	C	T	C142751852T	PRSS1	NM_002769.5(PRSS1):c.279C>T:p.Ile93=	coding	Benign
7	142751919	C	T	C142751919T	PRSS1	NM_002769.5(PRSS1):c.346C>T:p.Arg116Cys	coding	Pathogenic/Likely_pathogenic
7	142751937	C	T	C142751937T	PRSS1	NM_002769.5(PRSS1):c.364C>T:p.Arg122Cys	coding	Pathogenic
7	142751938	G	A	G142751938A	PRSS1	NM_002769.5(PRSS1):c.365G>A:p.Arg122His	coding	Pathogenic
7	142751939	C	T	C142751939T	PRSS1	NM_002769.5(PRSS1):c.366C>T:p.Arg122=	coding	Benign/Likely_benign
7	142751963	C	T	C142751963T	PRSS1	NM_002769.5(PRSS1):c.390C>T:p.Thr130=	coding	Benign/Likely_benign
7	142751990	C	T	C142751990T	PRSS1	NM_002769.5(PRSS1):c.417C>T:p.Cys139=	coding	Benign/Likely_benign
7	142752462	T	C	T142752462C	PRSS1	NM_002769.5(PRSS1):c.486T>C:p.Asp162=	coding	Benign/Likely_benign
7	142752484	A	G	A142752484G	PRSS1	NM_002769.5(PRSS1):c.508A>G:p.Lys170Glu	coding	Benign/Likely_benign
7	142752518	G	A	G142752518A	PRSS1	NM_002769.5(PRSS1):c.542G>A:p.Ser181Asn	coding	Benign
7	142752543	T	C	T142752543C	PRSS1	NM_002769.5(PRSS1):c.567T>C:p.Leu189=	coding	Benign/Likely_benign
7	142752561	A	C	A142752561C	PRSS1	NM_002769.5(PRSS1):c.585A>C:p.Ser195=	coding	Benign
7	142752564	T	C	T142752564C	PRSS1	NM_002769.5(PRSS1):c.588T>C:p.Cys196=	coding	Benign
7	142752844	C	T	C142752844T	TRB;PRSS1	NM_002769.5(PRSS1):c.592-24C>T	noncoding	Benign
7	142752857	C	T	C142752857T	PRSS1	NM_002769.5(PRSS1):c.592-11C>T	noncoding	Benign
7	142752860	C	T	C142752860T	PRSS1	NM_002769.5(PRSS1):c.592-8C>T	noncoding	Benign
7	142752913	G	A	G142752913A	PRSS1	NM_002769.5(PRSS1):c.637G>A:p.Val213Ile	coding	Benign
7	142752927	T	C	T142752927C	PRSS1	NM_002769.5(PRSS1):c.651T>C:p.Gly217=	coding	Benign/Likely_benign
7	142753014	T	C	T142753014C	PRSS1	NM_002769.5(PRSS1):c.738T>C:p.Asn246=	coding	Benign/Likely_benign
7	142873592	G	A	G142873592A	TRPV6	NM_018646.6(TRPV6):c.1764C>T:p.Asn588=	coding	Benign
7	142875618	G	A	G142875618A	TRPV6	NM_018646.6(TRPV6):c.1092C>T:p.Tyr364=	coding	Benign
7	142875860	C	T	C142875860T	TRPV6	NM_018646.6(TRPV6):c.927G>A:p.Thr309=	coding	Benign
7	142877137	C	T	C142877137T	TRPV6	NM_018646.6(TRPV6):c.607+5G>A	noncoding	Pathogenic
7	142885585	C	A	C142885585A	TRPV6	NM_018646.6(TRPV6):c.52G>T:p.Ala18Ser	coding	Benign
7	142912583	T	C	T142912583C	TRPV5	NM_019841.7(TRPV5):c.1687A>G:p.Thr563Ala	coding	Benign
7	142925619	A	G	A142925619G	TRPV5	NM_019841.7(TRPV5):c.1032T>C:p.Thr344=	coding	Benign
7	142928154	C	T	C142928154T	TRPV5	NM_019841.7(TRPV5):c.843G>A:p.Thr281=	coding	Benign
7	142928210	G	A	G142928210A	TRPV5	NM_019841.7(TRPV5):c.787C>T:p.Arg263Trp	coding	Benign
7	142928787	A	G	A142928787G	TRPV5	NM_019841.7(TRPV5):c.666T>C:p.Tyr222=	coding	Benign
7	142929454	T	C	T142929454C	TRPV5	NM_019841.7(TRPV5):c.461A>G:p.His154Arg	coding	Benign
7	142933392	A	G	A142933392G	TRPV5	NM_019841.7(TRPV5):c.68T>C:p.Leu23Pro	coding	Benign
7	142943026	A	G	A142943026G	KEL	NM_000420.3(KEL):c.1790T>C:p.Leu597Pro	coding	Benign
7	142943829	G	T	G142943829T	KEL	NM_000420.3(KEL):c.1546C>A:p.Arg516=	coding	Benign
7	142953909	G	A	G142953909A	KEL	NM_000420.3(KEL):c.972C>T:p.Phe324=	coding	Benign
7	142957921	G	A	G142957921A	KEL	NM_000420.3(KEL):c.578C>T:p.Thr193Met	coding	Benign
7	143135248	C	T	C143135248T	PIP	NM_002652.3(PIP):c.150C>T:p.Asp50=	coding	Benign
7	143139553	C	T	C143139553T	PIP	NM_002652.3(PIP):c.352C>T:p.Arg118Trp	coding	Benign
7	143139627	C	A	C143139627A	PIP	NM_002652.3(PIP):c.426C>A:p.Ile142=	coding	Benign
7	143268111	C	T	C143268111T	GSTK1	NM_015917.3(GSTK1):c.558C>T:p.Thr186=	coding	Benign
7	143268784	C	G	C143268784G	GSTK1	NM_015917.3(GSTK1):c.632-4C>G	noncoding	Benign
7	143291552	G	A	G143291552A	CASP2	NM_032982.4(CASP2):c.87G>A:p.Val29=	coding	Benign
7	143292676	C	T	C143292676T	CASP2	NM_032982.4(CASP2):c.453C>T:p.Tyr151=	coding	Benign
7	143299937	A	G	A143299937G	CASP2	NM_032982.4(CASP2):c.762A>G:p.Lys254=	coding	Benign
7	143299976	G	A	G143299976A	CASP2	NM_032982.4(CASP2):c.801G>A:p.Thr267=	coding	Benign
7	143304717	C	T	C143304717T	CASP2	NM_032982.4(CASP2):c.1161C>T:p.Ile387=	coding	Benign
7	143316078	T	G	T143316078G	CLCN1	NC_000007.14:g.143316078T>G	noncoding	Benign
7	143316192	C	T	C143316192T	CLCN1	NM_000083.3(CLCN1):c.-21C>T	noncoding	Benign
7	143316197	C	G	C143316197G	CLCN1	NM_000083.3(CLCN1):c.-16C>G	noncoding	Benign
7	143316198	T	G	T143316198G	CLCN1	NM_000083.3(CLCN1):c.-15T>G	noncoding	Benign
7	143316199	C	A	C143316199A	CLCN1	NM_000083.3(CLCN1):c.-14C>A	noncoding	Benign
7	143316238	G	A	G143316238A	CLCN1	NM_000083.3(CLCN1):c.26G>A:p.Arg9His	coding	Benign
7	143316298	A	C	A143316298C	CLCN1	NM_000083.3(CLCN1):c.86A>C:p.His29Pro	coding	Benign/Likely_benign
7	143316395	A	T	A143316395T	CLCN1	NM_000083.3(CLCN1):c.180+3A>T	noncoding	Pathogenic
7	143319794	C	T	C143319794T	CLCN1	NM_000083.3(CLCN1):c.220C>T:p.Gln74Ter	coding	Pathogenic
7	143319835	C	T	C143319835T	CLCN1	NM_000083.3(CLCN1):c.261C>T:p.Thr87=	coding	Benign
7	143320660	C	T	C143320660T	CLCN1	NM_000083.3(CLCN1):c.302-4C>T	noncoding	Benign
7	143320663	G	A	G143320663A	CLCN1	NM_000083.3(CLCN1):c.302-1G>A	noncoding	Pathogenic
7	143320676	G	A	G143320676A	CLCN1	NM_000083.3(CLCN1):c.314G>A:p.Arg105His	coding	Benign/Likely_benign
7	143320678	C	G	C143320678G	CLCN1	NM_000083.3(CLCN1):c.316C>G:p.Leu106Val	coding	Benign/Likely_benign
7	143320714	G	T	G143320714T	CLCN1	NM_000083.3(CLCN1):c.352G>T:p.Gly118Trp	coding	Benign
7	143320756	A	T	A143320756T	CLCN1	NM_000083.3(CLCN1):c.394A>T:p.Ser132Cys	coding	Pathogenic
7	143320771	T	G	T143320771G	CLCN1	NM_000083.3(CLCN1):c.409T>G:p.Tyr137Asp	coding	Pathogenic/Likely_pathogenic
7	143320867	C	G	C143320867G	CLCN1	NM_000083.3(CLCN1):c.433+72C>G	noncoding	Benign
7	143321381	C	T	C143321381T	CLCN1	NM_000083.3(CLCN1):c.450C>T:p.Tyr150=	coding	Benign
7	143321392	A	G	A143321392G	CLCN1	NM_000083.3(CLCN1):c.461A>G:p.Gln154Arg	coding	Benign
7	143321409	C	T	C143321409T	CLCN1	NM_000083.3(CLCN1):c.478C>T:p.Gln160Ter	coding	Pathogenic
7	143321692	A	T	A143321692T	CLCN1	NM_000083.3(CLCN1):c.563-23A>T	noncoding	Benign
7	143321706	C	T	C143321706T	CLCN1	NM_000083.3(CLCN1):c.563-9C>T	noncoding	Benign/Likely_benign
7	143321718	C	T	C143321718T	CLCN1	NM_000083.3(CLCN1):c.566C>T:p.Ser189Phe	coding	Pathogenic
7	143321803	C	T	C143321803T	CLCN1	NM_000083.3(CLCN1):c.651C>T:p.Val217=	coding	Benign/Likely_benign
7	143321815	G	A	G143321815A	CLCN1	NM_000083.3(CLCN1):c.663G>A:p.Ala221=	coding	Benign
7	143321841	G	A	G143321841A	CLCN1	NM_000083.3(CLCN1):c.689G>A:p.Gly230Glu	coding	Pathogenic
7	143323354	A	T	A143323354T	CLCN1	NM_000083.3(CLCN1):c.742A>T:p.Lys248Ter	coding	Pathogenic
7	143323387	G	A	G143323387A	CLCN1	NM_000083.3(CLCN1):c.774+1G>A	coding	Pathogenic
7	143323532	T	C	T143323532C	CLCN1	NM_000083.3(CLCN1):c.774+146T>C	noncoding	Benign
7	143323556	G	A	G143323556A	CLCN1	NM_000083.3(CLCN1):c.774+170G>A	noncoding	Benign
7	143324442	C	T	C143324442T	CLCN1	NM_000083.3(CLCN1):c.803C>T:p.Thr268Met	coding	Pathogenic/Likely_pathogenic
7	143324443	G	A	G143324443A	CLCN1	NM_000083.3(CLCN1):c.804G>A:p.Thr268=	coding	Benign/Likely_benign
7	143324486	C	T	C143324486T	CLCN1	NM_000083.3(CLCN1):c.847C>T:p.Leu283Phe	coding	Pathogenic
7	143330772	G	A	G143330772A	CLCN1	NM_000083.3(CLCN1):c.854G>A:p.Gly285Glu	coding	Pathogenic
7	143330788	C	G	C143330788G	CLCN1	NM_000083.3(CLCN1):c.870C>G:p.Ile290Met	coding	Pathogenic
7	143330789	G	A	G143330789A	CLCN1	NM_000083.3(CLCN1):c.871G>A:p.Glu291Lys	coding	Pathogenic
7	143330810	G	A	G143330810A	CLCN1	NM_000083.3(CLCN1):c.892G>A:p.Ala298Thr	coding	Pathogenic/Likely_pathogenic
7	143330818	G	A	G143330818A	CLCN1	NM_000083.3(CLCN1):c.900G>A:p.Arg300=	coding	Benign/Likely_benign
7	143330826	G	A	G143330826A	CLCN1	NM_000083.3(CLCN1):c.908G>A:p.Trp303Ter	coding	Pathogenic
7	143330838	T	C	T143330838C	CLCN1	NM_000083.3(CLCN1):c.920T>C:p.Phe307Ser	coding	Pathogenic
7	143330847	C	T	C143330847T	CLCN1	NM_000083.3(CLCN1):c.929C>T:p.Thr310Met	coding	Pathogenic
7	143330855	G	A	G143330855A	CLCN1	NM_000083.3(CLCN1):c.937G>A:p.Ala313Thr	coding	Pathogenic
7	143330867	C	T	C143330867T	CLCN1	NM_000083.3(CLCN1):c.949C>T:p.Arg317Ter	coding	Pathogenic
7	143330868	G	A	G143330868A	CLCN1	NM_000083.3(CLCN1):c.950G>A:p.Arg317Gln	coding	Pathogenic/Likely_pathogenic
7	143330897	G	A	G143330897A	CLCN1	NM_000083.3(CLCN1):c.979G>A:p.Val327Ile	coding	Pathogenic
7	143330898	G	A	G143330898A	CLCN1	NM_000083.3(CLCN1):c.979+1G>A	coding	Pathogenic
7	143330898	G	T	G143330898T	CLCN1	NM_000083.3(CLCN1):c.979+1G>T	coding	Pathogenic
7	143331264	C	T	C143331264T	CLCN1	NM_000083.3(CLCN1):c.1012C>T:p.Arg338Ter	coding	Pathogenic/Likely_pathogenic
7	143331265	G	A	G143331265A	CLCN1	NM_000083.3(CLCN1):c.1013G>A:p.Arg338Gln	coding	Pathogenic/Likely_pathogenic
7	143331315	G	A	G143331315A	CLCN1	NM_000083.3(CLCN1):c.1063G>A:p.Gly355Arg	coding	Pathogenic
7	143331443	G	A	G143331443A	CLCN1	NM_000083.3(CLCN1):c.1065-108G>A	noncoding	Benign
7	143331615	C	T	C143331615T	CLCN1	NM_000083.3(CLCN1):c.1129C>T:p.Arg377Ter	coding	Pathogenic
7	143332278	G	T	G143332278T	CLCN1	NM_000083.3(CLCN1):c.1167-141G>T	noncoding	Benign
7	143332409	T	C	T143332409C	CLCN1	NM_000083.3(CLCN1):c.1167-10T>C	noncoding	Pathogenic/Likely_pathogenic
7	143332431	T	A	T143332431A	CLCN1	NM_000083.3(CLCN1):c.1179T>A:p.Tyr393Ter	coding	Pathogenic/Likely_pathogenic
7	143332490	T	G	T143332490G	CLCN1	NM_000083.3(CLCN1):c.1238T>G:p.Phe413Cys	coding	Pathogenic
7	143332499	G	A	G143332499A	CLCN1	NM_000083.3(CLCN1):c.1247G>A:p.Gly416Glu	coding	Pathogenic
7	143332734	G	A	G143332734A	CLCN1	NM_000083.3(CLCN1):c.1262G>A:p.Arg421His	coding	Pathogenic/Likely_pathogenic
7	143332771	G	A	G143332771A	CLCN1	NM_000083.3(CLCN1):c.1299G>A:p.Trp433Ter	coding	Pathogenic
7	143332781	G	A	G143332781A	CLCN1	NM_000083.3(CLCN1):c.1309G>A:p.Ala437Thr	coding	Benign
7	143332874	G	T	G143332874T	CLCN1	NM_000083.3(CLCN1):c.1401+1G>T	coding	Pathogenic/Likely_pathogenic
7	143332890	T	C	T143332890C	CLCN1	NM_000083.3(CLCN1):c.1401+17T>C	noncoding	Benign
7	143333053	C	A	C143333053A	CLCN1	NM_000083.3(CLCN1):c.1401+180C>A	noncoding	Benign
7	143339244	C	T	C143339244T	CLCN1	NM_000083.3(CLCN1):c.1402-9C>T	noncoding	Benign
7	143339263	C	T	C143339263T	CLCN1	NM_000083.3(CLCN1):c.1412C>T:p.Ser471Phe	coding	Pathogenic
7	143339289	C	A	C143339289A	CLCN1	NM_000083.3(CLCN1):c.1438C>A:p.Pro480Thr	coding	Pathogenic
7	143339290	C	T	C143339290T	CLCN1	NM_000083.3(CLCN1):c.1439C>T:p.Pro480Leu	coding	Pathogenic
7	143339295	G	A	G143339295A	CLCN1	NM_000083.3(CLCN1):c.1444G>A:p.Gly482Arg	coding	Pathogenic/Likely_pathogenic
7	143339323	G	A	G143339323A	CLCN1	NM_000083.3(CLCN1):c.1471+1G>A	coding	Pathogenic
7	143339517	C	A	C143339517A	CLCN1	NM_000083.3(CLCN1):c.1478C>A:p.Ala493Glu	coding	Pathogenic
7	143339527	G	T	G143339527T	CLCN1	NM_000083.3(CLCN1):c.1488G>T:p.Arg496Ser	coding	Pathogenic
7	143339534	G	A	G143339534A	CLCN1	NM_000083.3(CLCN1):c.1495G>A:p.Gly499Arg	coding	Pathogenic
7	143339607	G	A	G143339607A	CLCN1	NM_000083.3(CLCN1):c.1568G>A:p.Gly523Asp	coding	Pathogenic
7	143339687	T	C	T143339687C	CLCN1	NM_000083.3(CLCN1):c.1582+66T>C	noncoding	Benign
7	143341867	A	C	A143341867C	CLCN1	NM_000083.3(CLCN1):c.1583-62A>C	noncoding	Benign
7	143341938	C	T	C143341938T	CLCN1	NM_000083.3(CLCN1):c.1592C>T:p.Ala531Val	coding	Pathogenic
7	143341995	C	T	C143341995T	CLCN1	NM_000083.3(CLCN1):c.1649C>T:p.Thr550Met	coding	Pathogenic
7	143342001	A	G	A143342001G	CLCN1	NM_000083.3(CLCN1):c.1655A>G:p.Gln552Arg	coding	Pathogenic/Likely_pathogenic
7	143342025	T	C	T143342025C	CLCN1	NM_000083.3(CLCN1):c.1679T>C:p.Met560Thr	coding	Pathogenic
7	143342130	G	A	G143342130A	CLCN1	NM_000083.3(CLCN1):c.1784G>A:p.Trp595Ter	coding	Pathogenic
7	143342131	G	A	G143342131A	CLCN1	NM_000083.3(CLCN1):c.1785G>A:p.Trp595Ter	coding	Pathogenic
7	143342363	C	T	C143342363T	CLCN1	NM_000083.3(CLCN1):c.1797-9C>T	noncoding	Benign
7	143342390	T	C	T143342390C	CLCN1	NM_000083.3(CLCN1):c.1815T>C:p.Val605=	coding	Benign/Likely_benign
7	143342451	C	T	C143342451T	CLCN1	NM_000083.3(CLCN1):c.1876C>T:p.Arg626Ter	coding	Pathogenic
7	143342500	C	G	C143342500G	CLCN1	NM_000083.3(CLCN1):c.1925C>G:p.Ser642Ter	coding	Pathogenic
7	143342506	G	A	G143342506A	CLCN1	NM_000083.3(CLCN1):c.1930+1G>A	coding	Pathogenic
7	143345228	C	A	C143345228A	CLCN1	NM_000083.3(CLCN1):c.1931-293C>A	noncoding	Benign
7	143345459	G	A	G143345459A	CLCN1	NM_000083.3(CLCN1):c.1931-62G>A	noncoding	Benign
7	143345580	C	T	C143345580T	CLCN1	NM_000083.3(CLCN1):c.1990C>T:p.His664Tyr	coding	Benign
7	143345613	C	T	C143345613T	CLCN1	NM_000083.3(CLCN1):c.2023C>T:p.Gln675Ter	coding	Pathogenic
7	143345726	T	C	T143345726C	CLCN1	NM_000083.3(CLCN1):c.2136T>C:p.Asp712=	coding	Benign
7	143345744	C	T	C143345744T	CLCN1	NM_000083.3(CLCN1):c.2154C>T:p.Asp718=	coding	Benign
7	143345763	G	A	G143345763A	CLCN1	NM_000083.3(CLCN1):c.2172+1G>A	coding	Pathogenic
7	143345763	G	T	G143345763T	CLCN1	NM_000083.3(CLCN1):c.2172+1G>T	coding	Pathogenic
7	143345890	A	G	A143345890G	CLCN1	NM_000083.3(CLCN1):c.2172+128A>G	noncoding	Benign
7	143346147	C	T	C143346147T	CLCN1	NM_000083.3(CLCN1):c.2180C>T:p.Pro727Leu	coding	Benign
7	143346174	C	T	C143346174T	CLCN1	NM_000083.3(CLCN1):c.2207C>T:p.Thr736Ile	coding	Benign
7	143346211	G	A	G143346211A	CLCN1	NM_000083.3(CLCN1):c.2244G>A:p.Leu748=	coding	Benign
7	143346578	G	C	G143346578C	CLCN1	NM_000083.3(CLCN1):c.2285-1G>C	noncoding	Pathogenic
7	143346660	T	A	T143346660A	CLCN1	NM_000083.3(CLCN1):c.2364+2T>A	noncoding	Pathogenic
7	143346725	G	A	G143346725A	CLCN1	NM_000083.3(CLCN1):c.2364+67G>A	noncoding	Benign
7	143346797	A	G	A143346797G	CLCN1	NM_000083.3(CLCN1):c.2365-114A>G	noncoding	Benign
7	143346809	C	T	C143346809T	CLCN1	NM_000083.3(CLCN1):c.2365-102C>T	noncoding	Benign
7	143346947	G	T	G143346947T	CLCN1	NM_000083.3(CLCN1):c.2401G>T:p.Glu801Ter	coding	Pathogenic
7	143350282	C	T	C143350282T	CLCN1	NM_000083.3(CLCN1):c.2404-90C>T	noncoding	Benign
7	143350387	C	T	C143350387T	CLCN1	NM_000083.3(CLCN1):c.2419C>T:p.Gln807Ter	coding	Pathogenic
7	143351593	G	A	G143351593A	CLCN1	NM_000083.3(CLCN1):c.2596-1G>A	noncoding	Pathogenic/Likely_pathogenic
7	143351633	C	T	C143351633T	CLCN1	NM_000083.3(CLCN1):c.2635C>T:p.Gln879Ter	coding	Pathogenic
7	143351899	C	T	C143351899T	CLCN1	NM_000083.3(CLCN1):c.2901C>T:p.Ala967=	coding	Benign/Likely_benign
7	143358975	C	T	C143358975T	FAM131B	NM_001031690.3(FAM131B):c.318G>A:p.Gly106=	coding	Benign
7	143381759	T	G	T143381759G	ZYX	NM_003461.5(ZYX):c.188T>G:p.Ile63Ser	coding	Benign
7	143388544	T	C	T143388544C	ZYX	NM_003461.5(ZYX):c.1200T>C:p.Ala400=	coding	Benign
7	143388829	G	A	G143388829A	ZYX	NM_003461.5(ZYX):c.1377G>A:p.Thr459=	coding	Benign
7	143388892	C	T	C143388892T	ZYX	NM_003461.5(ZYX):c.1440C>T:p.Thr480=	coding	Benign
7	143391499	G	A	G143391499A	EPHA1	NM_005232.5(EPHA1):c.2889C>T:p.His963=	coding	Benign
7	143393751	G	A	G143393751A	EPHA1	NM_005232.5(EPHA1):c.2616C>T:p.His872=	coding	Benign
7	143397297	G	A	G143397297A	EPHA1	NM_005232.5(EPHA1):c.1771+7C>T	noncoding	Benign
7	143398932	G	A	G143398932A	EPHA1	NM_005232.5(EPHA1):c.1005C>T:p.Ala335=	coding	Benign
7	143399307	C	T	C143399307T	EPHA1	NM_005232.5(EPHA1):c.942G>A:p.Glu314=	coding	Benign
7	143399643	G	A	G143399643A	EPHA1	NM_005232.5(EPHA1):c.835+8C>T	noncoding	Benign
7	143408735	C	T	C143408735T	EPHA1	NM_005232.5(EPHA1):c.71G>A:p.Arg24His	coding	Benign
7	143408737	C	A	C143408737A	EPHA1	NM_005232.5(EPHA1):c.69G>T:p.Ala23=	coding	Benign
7	144075125	G	A	G144075125A	OR2A25	NM_001004488.1(OR2A25):c.906G>A:p.Arg302=	coding	Benign
7	144397325	T	C	T144397325C	NOBOX	NM_001080413.3(NOBOX):c.1991A>G:p.Lys664Arg	coding	Benign
7	144397460	G	A	G144397460A	NOBOX	NM_001080413.3(NOBOX):c.1856C>T:p.Pro619Leu	coding	Benign
7	144397490	G	A	G144397490A	NOBOX	NM_001080413.3(NOBOX):c.1826C>T:p.Pro609Leu	coding	Benign/Likely_benign
7	144397520	G	T	G144397520T	NOBOX	NM_001080413.3(NOBOX):c.1796C>A:p.Pro599His	coding	Benign
7	144397549	G	T	G144397549T	NOBOX	NM_001080413.3(NOBOX):c.1775-8C>A	noncoding	Benign
7	144398347	G	A	G144398347A	NOBOX	NM_001080413.3(NOBOX):c.1709C>T:p.Ser570Leu	coding	Benign
7	144398507	A	G	A144398507G	NOBOX	NM_001080413.3(NOBOX):c.1549T>C:p.Phe517Leu	coding	Benign
7	144398975	C	T	C144398975T	NOBOX	NM_001080413.3(NOBOX):c.1444G>A:p.Gly482Ser	coding	Benign
7	144399065	C	T	C144399065T	NOBOX	NM_001080413.3(NOBOX):c.1354G>A:p.Asp452Asn	coding	Benign/Likely_benign
7	144399863	C	A	C144399863A	NOBOX	NM_001080413.3(NOBOX):c.1048G>T:p.Val350Leu	coding	Pathogenic
7	144400250	G	A	G144400250A	NOBOX	NM_001080413.3(NOBOX):c.907C>T:p.Arg303Ter	coding	Pathogenic
7	144401436	C	T	C144401436T	NOBOX	NM_001080413.3(NOBOX):c.454G>A:p.Gly152Arg	coding	Benign
7	144401541	G	A	G144401541A	NOBOX	NM_001080413.3(NOBOX):c.349C>T:p.Arg117Trp	coding	Benign/Likely_benign
7	144401612	C	T	C144401612T	NOBOX	NM_001080413.3(NOBOX):c.293-15G>A	noncoding	Benign
7	144401890	C	A	C144401890A	NOBOX	NM_001080413.3(NOBOX):c.271G>T:p.Gly91Trp	coding	Benign
7	144401899	G	A	G144401899A	NOBOX	NM_001080413.3(NOBOX):c.262C>T:p.Leu88=	coding	Benign
7	144404635	C	A	C144404635A	NOBOX	NM_001080413.3(NOBOX):c.131G>T:p.Arg44Leu	coding	Benign
7	144404688	G	A	G144404688A	NOBOX	NM_001080413.3(NOBOX):c.86-8C>T	noncoding	Benign
7	144410160	C	T	C144410160T	NOBOX	NM_001080413.3(NOBOX):c.68G>A:p.Gly23Asp	coding	Benign
7	144410162	A	G	A144410162G	NOBOX	NM_001080413.3(NOBOX):c.66T>C:p.Asp22=	coding	Benign
7	144410186	A	G	A144410186G	NOBOX	NM_001080413.3(NOBOX):c.42T>C:p.Gly14=	coding	Benign
7	144453613	C	G	C144453613G	TPK1	NM_022445.4(TPK1):c.664G>C:p.Asp222His	coding	Pathogenic
7	144453621	T	C	T144453621C	TPK1	NM_022445.4(TPK1):c.656A>G:p.Asn219Ser	coding	Pathogenic
7	144453664	C	T	C144453664T	TPK1	NM_022445.4(TPK1):c.614-1G>A	coding	Pathogenic
7	144453745	G	C	G144453745C	TPK1	NM_022445.4(TPK1):c.614-82C>G	noncoding	Benign
7	144453903	T	G	T144453903G	TPK1	NM_022445.4(TPK1):c.614-240A>C	noncoding	Benign
7	144591419	T	A	T144591419A	TPK1	NM_022445.4(TPK1):c.501+4A>T	noncoding	Pathogenic/Likely_pathogenic
7	144591529	A	G	A144591529G	TPK1	NM_022445.4(TPK1):c.395T>C:p.Phe132Ser	coding	Pathogenic
7	144591558	G	A	G144591558A	TPK1	NM_022445.4(TPK1):c.366C>T:p.Ile122=	coding	Benign/Likely_benign
7	144623121	G	T	G144623121T	TPK1	NM_022445.4(TPK1):c.354+45C>A	noncoding	Benign
7	144648819	G	T	G144648819T	TPK1	NM_022445.4(TPK1):c.246C>A:p.Tyr82Ter	coding	Pathogenic
7	144682832	C	T	C144682832T	TPK1	NM_022445.4(TPK1):c.185+77G>A	noncoding	Benign
7	144682908	C	T	C144682908T	TPK1	NM_022445.4(TPK1):c.185+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	144682946	T	G	T144682946G	TPK1	NM_022445.4(TPK1):c.148A>C:p.Asn50His	coding	Pathogenic
7	144765897	C	T	C144765897T	TPK1	NM_022445.4(TPK1):c.98G>A:p.Arg33His	coding	Benign/Likely_benign
7	144765953	T	C	T144765953C	TPK1	NM_022445.4(TPK1):c.44-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	144835430	G	A	G144835430A	TPK1	NM_022445.4(TPK1):c.43+130C>T	noncoding	Benign
7	144835986	A	G	A144835986G	TPK1	NM_022445.4(TPK1):c.-36T>C	noncoding	Benign
7	146116762	G	A	G146116762A	CNTNAP2	NM_014141.5(CNTNAP2):c.-115G>A	noncoding	Benign
7	146116974	G	A	G146116974A	CNTNAP2	NM_014141.6(CNTNAP2):c.97+1G>A	coding	Pathogenic
7	146773992	C	A	C146773992A	CNTNAP2	NM_014141.6(CNTNAP2):c.98-279C>A	noncoding	Benign
7	146839820	C	T	C146839820T	CNTNAP2	NM_014141.6(CNTNAP2):c.318C>T:p.Ser106=	coding	Benign/Likely_benign
7	146840036	T	C	T146840036C	CNTNAP2	NM_014141.6(CNTNAP2):c.402+132T>C	noncoding	Benign
7	147043759	A	G	A147043759G	CNTNAP2	NM_014141.6(CNTNAP2):c.403-148A>G	noncoding	Benign
7	147107962	C	T	C147107962T	CNTNAP2	NM_014141.6(CNTNAP2):c.551-185C>T	noncoding	Benign
7	147108290	C	T	C147108290T	CNTNAP2	NM_014141.6(CNTNAP2):c.694C>T:p.Gln232Ter	coding	Pathogenic
7	147120832	G	T	G147120832T	CNTNAP2	NM_014141.6(CNTNAP2):c.755-147G>T	noncoding	Benign
7	147121058	T	C	T147121058C	CNTNAP2	NM_014141.6(CNTNAP2):c.834T>C:p.Ser278=	coding	Benign/Likely_benign
7	147121078	G	C	G147121078C	CNTNAP2	NM_014141.6(CNTNAP2):c.854G>C:p.Gly285Ala	coding	Benign/Likely_benign
7	147121305	C	A	C147121305A	CNTNAP2	NM_014141.6(CNTNAP2):c.939+142C>A	noncoding	Benign
7	147128676	A	T	A147128676T	CNTNAP2	NM_014141.6(CNTNAP2):c.940-17A>T	noncoding	Benign
7	147128785	C	T	C147128785T	CNTNAP2	NM_014141.6(CNTNAP2):c.1032C>T:p.Gly344=	coding	Benign/Likely_benign
7	147128829	C	G	C147128829G	CNTNAP2	NM_014141.6(CNTNAP2):c.1076C>G:p.Ser359Ter	coding	Pathogenic
7	147128969	A	G	A147128969G	CNTNAP2	NM_014141.6(CNTNAP2):c.1083+133A>G	noncoding	Benign
7	147129102	C	T	C147129102T	CNTNAP2	NM_014141.6(CNTNAP2):c.1083+266C>T	noncoding	Benign
7	147132280	G	A	G147132280A	CNTNAP2	NM_014141.6(CNTNAP2):c.1119G>A:p.Thr373=	coding	Benign
7	147132298	C	T	C147132298T	CNTNAP2	NM_014141.6(CNTNAP2):c.1137C>T:p.Asn379=	coding	Benign/Likely_benign
7	147132408	C	T	C147132408T	CNTNAP2	NM_014141.6(CNTNAP2):c.1247C>T:p.Ala416Val	coding	Benign/Likely_benign
7	147132469	C	T	C147132469T	CNTNAP2	NM_014141.6(CNTNAP2):c.1308C>T:p.Asn436=	coding	Benign/Likely_benign
7	147132507	C	G	C147132507G	CNTNAP2	NM_014141.6(CNTNAP2):c.1346C>G:p.Ser449Ter	coding	Pathogenic
7	147300191	G	T	G147300191T	CNTNAP2	NM_014141.6(CNTNAP2):c.1399G>T:p.Glu467Ter	coding	Pathogenic
7	147300239	C	T	C147300239T	CNTNAP2	NM_014141.6(CNTNAP2):c.1447C>T:p.Arg483Ter	coding	Pathogenic
7	147300272	G	T	G147300272T	CNTNAP2	NM_014141.6(CNTNAP2):c.1480G>T:p.Glu494Ter	coding	Pathogenic
7	147300522	T	C	T147300522C	CNTNAP2	NM_014141.6(CNTNAP2):c.1498+232T>C	noncoding	Benign
7	147300532	A	C	A147300532C	CNTNAP2	NM_014141.6(CNTNAP2):c.1498+242A>C	noncoding	Benign
7	147395523	C	T	C147395523T	CNTNAP2	NM_014141.6(CNTNAP2):c.1499-86C>T	noncoding	Benign
7	147395769	G	A	G147395769A	CNTNAP2	NM_014141.6(CNTNAP2):c.1659G>A:p.Ala553=	coding	Benign
7	147395948	T	G	T147395948G	CNTNAP2	NM_014141.6(CNTNAP2):c.1670+168T>G	noncoding	Benign
7	147485934	G	T	G147485934T	CNTNAP2	NM_014141.6(CNTNAP2):c.1671-1G>T	noncoding	Pathogenic
7	147485974	G	A	G147485974A	CNTNAP2	NM_014141.6(CNTNAP2):c.1710G>A:p.Ser570=	coding	Benign/Likely_benign
7	147486051	A	G	A147486051G	CNTNAP2	NM_014141.6(CNTNAP2):c.1777+10A>G	noncoding	Benign
7	147486095	C	T	C147486095T	CNTNAP2	NM_014141.6(CNTNAP2):c.1777+54C>T	noncoding	Benign
7	147486307	T	G	T147486307G	CNTNAP2	NM_014141.6(CNTNAP2):c.1777+266T>G	noncoding	Benign
7	147561874	A	C	A147561874C	CNTNAP2	NM_014141.6(CNTNAP2):c.1778-264A>C	noncoding	Benign
7	147561899	A	G	A147561899G	CNTNAP2	NM_014141.6(CNTNAP2):c.1778-239A>G	noncoding	Benign
7	147562013	G	A	G147562013A	CNTNAP2	NM_014141.6(CNTNAP2):c.1778-125G>A	noncoding	Benign
7	147562179	C	T	C147562179T	CNTNAP2	NM_014141.6(CNTNAP2):c.1819C>T:p.Gln607Ter	coding	Pathogenic
7	147562214	C	T	C147562214T	CNTNAP2	NM_014141.6(CNTNAP2):c.1854C>T:p.Gly618=	coding	Benign/Likely_benign
7	147562275	A	G	A147562275G	CNTNAP2	NM_014141.6(CNTNAP2):c.1897+18A>G	noncoding	Benign
7	147562282	A	G	A147562282G	CNTNAP2	NM_014141.6(CNTNAP2):c.1897+25A>G	noncoding	Benign
7	147562346	A	G	A147562346G	CNTNAP2	NM_014141.6(CNTNAP2):c.1897+89A>G	noncoding	Benign
7	147562459	C	T	C147562459T	CNTNAP2	NM_014141.6(CNTNAP2):c.1897+202C>T	noncoding	Benign
7	147639206	C	T	C147639206T	CNTNAP2	NM_014141.6(CNTNAP2):c.1998C>T:p.Ser666=	coding	Benign
7	147639254	C	A	C147639254A	CNTNAP2	NM_014141.6(CNTNAP2):c.2046C>A:p.Cys682Ter	coding	Pathogenic
7	147639258	C	T	C147639258T	CNTNAP2	NM_014141.6(CNTNAP2):c.2050C>T:p.Gln684Ter	coding	Pathogenic
7	147639538	G	T	G147639538T	CNTNAP2	NM_014141.6(CNTNAP2):c.2098+232G>T	noncoding	Benign
7	147903550	T	C	T147903550C	CNTNAP2	NM_014141.6(CNTNAP2):c.2099-15T>C	noncoding	Benign/Likely_benign
7	147903619	G	A	G147903619A	CNTNAP2	NM_014141.6(CNTNAP2):c.2153G>A:p.Trp718Ter	coding	Pathogenic
7	147977586	T	C	T147977586C	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-276T>C	noncoding	Benign
7	147977591	A	C	A147977591C	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-271A>C	noncoding	Benign
7	147977856	A	T	A147977856T	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-6A>T	noncoding	Benign/Likely_benign
7	147977886	A	G	A147977886G	CNTNAP2	NM_014141.6(CNTNAP2):c.2280A>G:p.Ser760=	coding	Benign
7	147977962	G	T	G147977962T	CNTNAP2	NM_014141.6(CNTNAP2):c.2356G>T:p.Val786Leu	coding	Benign/Likely_benign
7	147978172	G	A	G147978172A	CNTNAP2	NM_014141.6(CNTNAP2):c.2383+183G>A	noncoding	Benign
7	148118571	T	A	T148118571A	CNTNAP2	NM_014141.6(CNTNAP2):c.2554+283T>A	noncoding	Benign
7	148172360	G	A	G148172360A	CNTNAP2	NM_014141.6(CNTNAP2):c.2892G>A:p.Ser964=	coding	Benign/Likely_benign
7	148172363	C	A	C148172363A	CNTNAP2	NM_014141.6(CNTNAP2):c.2895C>A:p.Gly965=	coding	Benign/Likely_benign
7	148172578	T	C	T148172578C	CNTNAP2	NM_014141.6(CNTNAP2):c.3010+100T>C	noncoding	Benign
7	148217277	C	T	C148217277T	CNTNAP2	NM_014141.6(CNTNAP2):c.3011-11C>T	noncoding	Benign
7	148217382	C	T	C148217382T	CNTNAP2	NM_014141.6(CNTNAP2):c.3105C>T:p.Asn1035=	coding	Benign/Likely_benign
7	148217540	C	T	C148217540T	CNTNAP2	NM_014141.6(CNTNAP2):c.3247+16C>T	noncoding	Benign
7	148217793	T	G	T148217793G	CNTNAP2	NM_014141.6(CNTNAP2):c.3247+269T>G	noncoding	Benign
7	148229629	T	A	T148229629A	CNTNAP2	NM_014141.6(CNTNAP2):c.3248-17T>A	noncoding	Benign
7	148229642	A	G	A148229642G	CNTNAP2	NM_014141.6(CNTNAP2):c.3248-4A>G	noncoding	Benign
7	148229660	C	T	C148229660T	CNTNAP2	NM_014141.6(CNTNAP2):c.3262C>T:p.Arg1088Ter	coding	Pathogenic
7	148229796	A	C	A148229796C	CNTNAP2	NM_014141.6(CNTNAP2):c.3381+17A>C	noncoding	Benign
7	148229799	T	C	T148229799C	CNTNAP2	NM_014141.6(CNTNAP2):c.3381+20T>C	noncoding	Benign
7	148267026	C	T	C148267026T	CNTNAP2	NM_014141.6(CNTNAP2):c.3382-7C>T	noncoding	Benign
7	148267059	C	A	C148267059A	CNTNAP2	NM_014141.6(CNTNAP2):c.3408C>A:p.Tyr1136Ter	coding	Pathogenic
7	148267285	A	G	A148267285G	CNTNAP2	NM_014141.6(CNTNAP2):c.3475+159A>G	noncoding	Benign
7	148383371	C	T	C148383371T	CNTNAP2	NM_014141.6(CNTNAP2):c.3476-278C>T	noncoding	Benign
7	148383407	T	C	T148383407C	CNTNAP2	NM_014141.6(CNTNAP2):c.3476-242T>C	noncoding	Benign
7	148383505	C	T	C148383505T	CNTNAP2	NM_014141.6(CNTNAP2):c.3476-144C>T	noncoding	Benign
7	148383555	T	G	T148383555G	CNTNAP2	NM_014141.6(CNTNAP2):c.3476-94T>G	noncoding	Benign
7	148383634	C	A	C148383634A	CNTNAP2	NM_014141.6(CNTNAP2):c.3476-15C>A	noncoding	Benign/Likely_benign
7	148383758	G	A	G148383758A	CNTNAP2	NM_014141.6(CNTNAP2):c.3585G>A:p.Arg1195=	coding	Benign/Likely_benign
7	148383806	G	A	G148383806A	CNTNAP2	NM_014141.6(CNTNAP2):c.3633G>A:p.Glu1211=	coding	Benign/Likely_benign
7	148383827	G	A	G148383827A	CNTNAP2	NM_014141.6(CNTNAP2):c.3654G>A:p.Pro1218=	coding	Benign/Likely_benign
7	148383833	C	A	C148383833A	CNTNAP2	NM_014141.6(CNTNAP2):c.3660C>A:p.Thr1220=	coding	Benign
7	148409385	C	G	C148409385G	CNTNAP2	NM_014141.6(CNTNAP2):c.3716-6C>G	noncoding	Benign/Likely_benign
7	148409398	G	A	G148409398A	CNTNAP2	NM_014141.6(CNTNAP2):c.3723G>A:p.Ala1241=	coding	Benign
7	148409559	G	A	G148409559A	CNTNAP2	NM_014141.6(CNTNAP2):c.3796+88G>A	noncoding	Benign
7	148409562	T	C	T148409562C	CNTNAP2	NM_014141.6(CNTNAP2):c.3796+91T>C	noncoding	Benign
7	148415142	T	C	T148415142C	CNTNAP2	NM_014141.6(CNTNAP2):c.3797-275T>C	noncoding	Benign
7	148415316	G	C	G148415316C	CNTNAP2	NM_014141.6(CNTNAP2):c.3797-101G>C	noncoding	Benign
7	148415356	A	T	A148415356T	CNTNAP2	NM_014141.6(CNTNAP2):c.3797-61A>T	noncoding	Benign
7	148415411	C	T	C148415411T	CNTNAP2	NM_014141.6(CNTNAP2):c.3797-6C>T	noncoding	Benign/Likely_benign
7	148415625	T	C	T148415625C	CNTNAP2	NM_014141.6(CNTNAP2):c.*9T>C	noncoding	Benign
7	148415895	C	A	C148415895A	CNTNAP2	NM_014141.6(CNTNAP2):c.*279C>A	noncoding	Benign
7	148416294	G	C	G148416294C	CNTNAP2	NM_014141.6(CNTNAP2):c.*678G>C	noncoding	Benign
7	148416633	T	G	T148416633G	CNTNAP2	NM_014141.6(CNTNAP2):c.*1017T>G	noncoding	Benign/Likely_benign
7	148416675	A	T	A148416675T	CNTNAP2	NM_014141.6(CNTNAP2):c.*1059A>T	noncoding	Benign
7	148416803	G	A	G148416803A	CNTNAP2	NM_014141.6(CNTNAP2):c.*1187G>A	noncoding	Benign
7	148417049	A	G	A148417049G	CNTNAP2	NM_014141.6(CNTNAP2):c.*1433A>G	noncoding	Benign/Likely_benign
7	148417173	A	C	A148417173C	CNTNAP2	NM_014141.6(CNTNAP2):c.*1557A>C	noncoding	Benign
7	148417773	A	G	A148417773G	CNTNAP2	NM_014141.6(CNTNAP2):c.*2157A>G	noncoding	Benign
7	148418286	T	G	T148418286G	CNTNAP2	NM_014141.6(CNTNAP2):c.*2670T>G	noncoding	Benign
7	148418537	C	T	C148418537T	CNTNAP2	NM_014141.6(CNTNAP2):c.*2921C>T	noncoding	Benign
7	148418760	A	G	A148418760G	CNTNAP2	NM_014141.6(CNTNAP2):c.*3144A>G	noncoding	Benign
7	148419008	C	T	C148419008T	CNTNAP2	NM_014141.6(CNTNAP2):c.*3392C>T	noncoding	Benign/Likely_benign
7	148419147	G	A	G148419147A	CNTNAP2	NM_014141.6(CNTNAP2):c.*3531G>A	noncoding	Benign/Likely_benign
7	148419358	A	G	A148419358G	CNTNAP2	NM_014141.6(CNTNAP2):c.*3742A>G	noncoding	Benign
7	148419544	C	T	C148419544T	CNTNAP2	NM_014141.6(CNTNAP2):c.*3928C>T	noncoding	Benign
7	148420354	C	G	C148420354G	CNTNAP2	NM_014141.6(CNTNAP2):c.*4738C>G	noncoding	Benign
7	148420413	G	C	G148420413C	CNTNAP2	NM_014141.6(CNTNAP2):c.*4797G>C	noncoding	Benign
7	148420455	G	A	G148420455A	CNTNAP2	NM_014141.6(CNTNAP2):c.*4839G>A	noncoding	Benign
7	148420550	C	T	C148420550T	CNTNAP2	NM_014141.6(CNTNAP2):c.*4934C>T	noncoding	Benign
7	148420638	C	T	C148420638T	CNTNAP2	NM_014141.6(CNTNAP2):c.*5022C>T	noncoding	Benign
7	148807667	T	A	T148807667A	EZH2	NM_004456.5(EZH2):c.2235A>T:p.Glu745Asp	coding	Pathogenic
7	148807669	C	T	C148807669T	EZH2	NM_004456.4(EZH2):c.2233G>A:p.Glu745Lys	coding	Pathogenic
7	148807726	A	G	A148807726G	EZH2	NM_004456.4(EZH2):c.2196-20T>C	noncoding	Benign
7	148808972	A	G	A148808972G	EZH2	NM_004456.4(EZH2):c.2195+99T>C	noncoding	Benign
7	148809271	T	G	T148809271G	EZH2	NM_004456.4(EZH2):c.2110+39A>C	noncoding	Benign
7	148809304	A	C	A148809304C	EZH2	NM_004456.4(EZH2):c.2110+6T>G	noncoding	Benign
7	148809304	A	G	A148809304G	EZH2	NM_004456.4(EZH2):c.2110+6T>C	noncoding	Benign
7	148809340	G	A	G148809340A	EZH2	NM_004456.4(EZH2):c.2080C>T:p.His694Tyr	coding	Pathogenic
7	148809370	G	A	G148809370A	EZH2	NM_004456.4(EZH2):c.2050C>T:p.Arg684Cys	coding	Pathogenic
7	148809376	C	T	C148809376T	EZH2	NM_004456.4(EZH2):c.2044G>A:p.Ala682Thr	coding	Pathogenic
7	148810334	A	G	A148810334G	EZH2	NM_004456.4(EZH2):c.2028T>C:p.Asn676=	coding	Benign/Likely_benign
7	148811696	C	T	C148811696T	EZH2	NM_004456.4(EZH2):c.1876G>A:p.Val626Met	coding	Pathogenic
7	148811726	G	A	G148811726A	EZH2	NM_004456.4(EZH2):c.1852-6C>T	noncoding	Benign/Likely_benign
7	148811729	T	C	T148811729C	EZH2	NM_004456.4(EZH2):c.1852-9A>G	noncoding	Benign/Likely_benign
7	148811741	A	G	A148811741G	EZH2	NM_004456.4(EZH2):c.1852-21T>C	noncoding	Benign
7	148814079	C	T	C148814079T	EZH2	NM_004456.4(EZH2):c.1731G>A:p.Pro577=	coding	Benign
7	148814091	G	T	G148814091T	EZH2	NM_004456.4(EZH2):c.1719C>A:p.Thr573=	coding	Benign
7	148815049	G	A	G148815049A	EZH2	NM_004456.4(EZH2):c.1547-10C>T	noncoding	Benign/Likely_benign
7	148816415	C	G	C148816415G	EZH2	NM_004456.4(EZH2):c.1505+269G>C	noncoding	Benign
7	148816730	C	T	C148816730T	EZH2	NM_004456.4(EZH2):c.1459G>A:p.Ala487Thr	coding	Benign
7	148816737	T	C	T148816737C	EZH2	NM_004456.5(EZH2):c.1452A>G:p.Pro484=	coding	Benign
7	148817526	G	A	G148817526A	EZH2	NM_004456.4(EZH2):c.1241-135C>T	noncoding	Benign
7	148817868	G	T	G148817868T	EZH2	NM_004456.4(EZH2):c.1240+9C>A	noncoding	Benign
7	148818100	A	G	A148818100G	EZH2	NM_004456.4(EZH2):c.1017T>C:p.Phe339=	coding	Benign
7	148827145	C	G	C148827145G	EZH2	NM_004456.4(EZH2):c.728+19G>C	noncoding	Benign
7	148827235	A	G	A148827235G	EZH2	NM_004456.4(EZH2):c.657T>C:p.Pro219=	coding	Benign/Likely_benign
7	148828812	C	G	C148828812G	EZH2	NM_004456.4(EZH2):c.553G>C:p.Asp185His	coding	Benign
7	148828887	C	T	C148828887T	EZH2	NM_004456.4(EZH2):c.485-7G>A	noncoding	Benign
7	148829715	G	A	G148829715A	EZH2	NM_004456.4(EZH2):c.484+13C>T	noncoding	Benign/Likely_benign
7	148829754	T	C	T148829754C	EZH2	NM_004456.4(EZH2):c.458A>G:p.Tyr153Cys	coding	Pathogenic
7	148829814	T	C	T148829814C	EZH2	NM_004456.5(EZH2):c.398A>G:p.Tyr133Cys	coding	Pathogenic/Likely_pathogenic
7	148829816	A	G	A148829816G	EZH2	NM_004456.4(EZH2):c.396T>C:p.Pro132=	coding	Benign
7	148829818	G	A	G148829818A	EZH2	NM_004456.4(EZH2):c.394C>T:p.Pro132Ser	coding	Pathogenic
7	148832830	C	T	C148832830T	EZH2	NM_004456.4(EZH2):c.247-80G>A	noncoding	Benign
7	148846433	A	G	A148846433G	EZH2	NM_004456.4(EZH2):c.246+37T>C	noncoding	Benign
7	148846661	C	T	C148846661T	EZH2	NM_004456.4(EZH2):c.118-63G>A	noncoding	Benign
7	148847541	G	A	G148847541A	EZH2	NM_004456.4(EZH2):c.-7-236C>T	noncoding	Benign
7	149012261	G	A	G149012261A	PDIA4	NM_004911.5(PDIA4):c.714C>T:p.Thr238=	coding	Benign
7	149847808	G	A	G149847808A	ZNF862	NM_001099220.3(ZNF862):c.315G>A:p.Pro105=	coding	Benign
7	149861843	G	A	G149861843A	ZNF862	NM_001099220.3(ZNF862):c.2683G>A:p.Ala895Thr	coding	Benign
7	150338988	G	T	G150338988T	RARRES2	NM_002889.4(RARRES2):c.373C>A:p.Arg125=	coding	Benign
7	150340550	G	C	G150340550C	RARRES2	NM_002889.4(RARRES2):c.60C>G:p.Ala20=	coding	Benign
7	150627830	G	T	G150627830T	GIMAP6	NM_024711.6(GIMAP6):c.768C>A:p.Gly256=	coding	Benign
7	150627888	T	C	T150627888C	GIMAP6	NM_024711.6(GIMAP6):c.710A>G:p.Gln237Arg	coding	Benign
7	150628290	T	C	T150628290C	GIMAP6	NM_024711.6(GIMAP6):c.308A>G:p.Gln103Arg	coding	Benign
7	150628405	C	T	C150628405T	GIMAP6	NM_024711.6(GIMAP6):c.193G>A:p.Val65Ile	coding	Benign
7	150720100	T	A	T150720100A	GIMAP1	NM_130759.4(GIMAP1):c.96T>A:p.Leu32=	coding	Benign
7	150720269	T	C	T150720269C	GIMAP1	NM_130759.4(GIMAP1):c.265T>C:p.Ser89Pro	coding	Benign
7	150742952	G	A	G150742952A	GIMAP5	NM_018384.4(GIMAP5):c.813G>A:p.Ala271=	coding	Benign
7	150860619	A	C	A150860619C	AOC1	NM_001091.4(AOC1):c.1975A>C:p.Asn659His	coding	Benign
7	150944968	A	G	A150944968G	KCNH2	NM_172057.2(KCNH2):c.*397T>C	noncoding	Benign
7	150945273	G	A	G150945273A	KCNH2	NM_000238.4(KCNH2):c.*92C>T	noncoding	Benign
7	150945350	C	T	C150945350T	KCNH2	NM_172057.2(KCNH2):c.*15G>A	noncoding	Benign/Likely_benign
7	150945479	C	T	C150945479T	KCNH2	NM_000238.3(KCNH2):c.3366G>A:p.Pro1122=	coding	Benign/Likely_benign
7	150945497	C	T	C150945497T	KCNH2	NM_000238.4(KCNH2):c.3348G>A:p.Ala1116=	coding	Benign/Likely_benign
7	150946876	C	T	C150946876T	KCNH2	NM_172057.2(KCNH2):c.2310+1G>A	noncoding	Pathogenic
7	150946979	G	A	G150946979A	KCNH2	NM_000238.3(KCNH2):c.3228C>T:p.Pro1076=	coding	Benign/Likely_benign
7	150946991	C	T	C150946991T	KCNH2	NM_000238.3(KCNH2):c.3216G>A:p.Thr1072=	coding	Benign
7	150947005	G	A	G150947005A	KCNH2	NM_000238.3(KCNH2):c.3202C>T:p.Gln1068Ter	coding	Pathogenic
7	150947014	G	A	G150947014A	KCNH2	NM_000238.3(KCNH2):c.3193C>T:p.Gln1065Ter	coding	Pathogenic
7	150947058	G	A	G150947058A	KCNH2	NM_172057.2(KCNH2):c.2133-4C>T	noncoding	Benign/Likely_benign
7	150947069	G	A	G150947069A	KCNH2	NM_000238.4(KCNH2):c.3153-15C>T	noncoding	Benign
7	150947316	G	T	G150947316T	KCNH2	NM_000238.3(KCNH2):c.3152+12C>A	noncoding	Benign/Likely_benign
7	150947326	A	G	A150947326G	KCNH2	NM_172057.2(KCNH2):c.2132+2T>C	noncoding	Pathogenic
7	150947327	C	A	C150947327A	KCNH2	NM_172057.2(KCNH2):c.2132+1G>T	noncoding	Pathogenic
7	150947347	G	A	G150947347A	KCNH2	NM_000238.3(KCNH2):c.3133C>T:p.Leu1045Phe	coding	Benign
7	150947417	G	A	G150947417A	KCNH2	NM_000238.3(KCNH2):c.3063C>T:p.Ser1021=	coding	Benign/Likely_benign
7	150947440	G	A	G150947440A	KCNH2	NM_000238.3(KCNH2):c.3040C>T:p.Arg1014Ter	coding	Pathogenic
7	150947453	G	C	G150947453C	KCNH2	NM_000238.3(KCNH2):c.3027C>G:p.Tyr1009Ter	coding	Pathogenic
7	150947477	C	T	C150947477T	KCNH2	NM_000238.4(KCNH2):c.3003G>A:p.Trp1001Ter	coding	Pathogenic
7	150947478	C	T	C150947478T	KCNH2	NM_000238.4(KCNH2):c.3002G>A:p.Trp1001Ter	coding	Pathogenic
7	150947486	G	A	G150947486A	KCNH2	NM_000238.3(KCNH2):c.2994C>T:p.Phe998=	coding	Benign/Likely_benign
7	150947493	T	A	T150947493A	KCNH2	NM_000238.4(KCNH2):c.2987A>T:p.Asn996Ile	coding	Pathogenic
7	150947517	G	C	G150947517C	KCNH2	NM_000238.4(KCNH2):c.2966-3C>G	noncoding	Pathogenic
7	150947619	G	T	G150947619T	KCNH2	NM_000238.4(KCNH2):c.2952C>A:p.Cys984Ter	coding	Pathogenic
7	150947639	C	A	C150947639A	KCNH2	NM_000238.4(KCNH2):c.2932G>T:p.Glu978Ter	coding	Pathogenic
7	150947640	G	T	G150947640T	KCNH2	NM_000238.3(KCNH2):c.2931C>A:p.Cys977Ter	coding	Pathogenic
7	150947667	C	T	C150947667T	KCNH2	NM_000238.4(KCNH2):c.2904G>A:p.Pro968=	coding	Benign/Likely_benign
7	150947791	C	T	C150947791T	KCNH2	NM_000238.3(KCNH2):c.2780G>A:p.Trp927Ter	coding	Pathogenic
7	150947880	T	A	T150947880A	KCNH2	NM_000238.4(KCNH2):c.2693-2A>T	noncoding	Pathogenic
7	150948412	G	C	G150948412C	KCNH2	NM_000238.3(KCNH2):c.2692+32C>G	noncoding	Benign
7	150948446	T	G	T150948446G	KCNH2	NM_000238.4(KCNH2):c.2690A>C:p.Lys897Thr	coding	Benign
7	150948510	C	A	C150948510A	KCNH2	NM_000238.3(KCNH2):c.2626G>T:p.Glu876Ter	coding	Pathogenic
7	150948519	C	T	C150948519T	KCNH2	NM_000238.3(KCNH2):c.2617G>A:p.Gly873Ser	coding	Benign/Likely_benign
7	150948529	C	T	C150948529T	KCNH2	NM_000238.4(KCNH2):c.2607G>A:p.Pro869=	coding	Benign/Likely_benign
7	150948594	G	A	G150948594A	KCNH2	NM_000238.3(KCNH2):c.2593-51C>T	noncoding	Benign
7	150948855	C	T	C150948855T	KCNH2	NM_172057.2(KCNH2):c.1572+1G>A	noncoding	Pathogenic
7	150948861	G	A	G150948861A	KCNH2	NM_000238.3(KCNH2):c.2587C>T:p.Arg863Ter	coding	Pathogenic
7	150948866	T	A	T150948866A	KCNH2	NM_000238.3(KCNH2):c.2582A>T:p.Asn861Ile	coding	Pathogenic
7	150948866	T	C	T150948866C	KCNH2	NM_000238.4(KCNH2):c.2582A>G:p.Asn861Ser	coding	Pathogenic
7	150948938	T	C	T150948938C	KCNH2	NM_000238.3(KCNH2):c.2510A>G:p.Asp837Gly	coding	Pathogenic/Likely_pathogenic
7	150948939	C	T	C150948939T	KCNH2	NM_000238.3(KCNH2):c.2509G>A:p.Asp837Asn	coding	Pathogenic/Likely_pathogenic
7	150948954	T	A	T150948954A	KCNH2	NM_000238.4(KCNH2):c.2494A>T:p.Lys832Ter	coding	Pathogenic
7	150948971	G	A	G150948971A	KCNH2	NM_000238.4(KCNH2):c.2477C>T:p.Thr826Ile	coding	Pathogenic
7	150948981	G	A	G150948981A	KCNH2	NM_000238.4(KCNH2):c.2467C>T:p.Arg823Trp	coding	Pathogenic/Likely_pathogenic
7	150948984	C	T	C150948984T	KCNH2	NM_000238.3(KCNH2):c.2464G>A:p.Val822Met	coding	Pathogenic
7	150948995	G	A	G150948995A	KCNH2	NM_000238.3(KCNH2):c.2453C>T:p.Ser818Leu	coding	Pathogenic/Likely_pathogenic
7	150949031	C	G	C150949031G	KCNH2	NM_000238.4(KCNH2):c.2417G>C:p.Gly806Ala	coding	Pathogenic
7	150949031	C	T	C150949031T	KCNH2	NM_000238.4(KCNH2):c.2417G>A:p.Gly806Glu	coding	Pathogenic
7	150949034	A	C	A150949034C	KCNH2	NM_000238.4(KCNH2):c.2414T>G:p.Phe805Cys	coding	Pathogenic/Likely_pathogenic
7	150949034	A	G	A150949034G	KCNH2	NM_000238.4(KCNH2):c.2414T>C:p.Phe805Ser	coding	Pathogenic
7	150949036	G	T	G150949036T	KCNH2	NM_000238.4(KCNH2):c.2412C>A:p.Ile804=	coding	Benign
7	150949989	C	T	C150949989T	KCNH2	NM_172056.2(KCNH2):c.2577G>A:p.Thr859=	coding	Benign/Likely_benign
7	150949990	G	A	G150949990A	KCNH2	NM_172056.2(KCNH2):c.2576C>T:p.Thr859Met	coding	Benign/Likely_benign
7	150950013	G	T	G150950013T	KCNH2	NM_172056.2(KCNH2):c.2553C>A:p.Ser851Arg	coding	Benign
7	150950152	G	A	G150950152A	KCNH2	NM_172056.2(KCNH2):c.2414C>T:p.Ala805Val	coding	Benign/Likely_benign
7	150950163	C	A	C150950163A	KCNH2	NM_172056.2(KCNH2):c.2403G>T:p.Met801Ile	coding	Pathogenic
7	150950166	A	T	A150950166T	KCNH2	NM_172056.2(KCNH2):c.2400T>A:p.Gly800=	coding	Pathogenic
7	150950167	C	A	C150950167A	KCNH2	NM_172056.2(KCNH2):c.2399G>T:p.Gly800Val	coding	Pathogenic/Likely_pathogenic
7	150950167	C	G	C150950167G	KCNH2	NM_172056.2(KCNH2):c.2399G>C:p.Gly800Ala	coding	Pathogenic
7	150950246	C	A	C150950246A	KCNH2	NM_172056.2(KCNH2):c.2320G>T:p.Asp774Tyr	coding	Pathogenic/Likely_pathogenic
7	150950312	G	A	G150950312A	KCNH2	NM_000238.4(KCNH2):c.2254C>T:p.Arg752Trp	coding	Pathogenic/Likely_pathogenic
7	150950336	G	A	G150950336A	KCNH2	NM_172056.2(KCNH2):c.2230C>T:p.Arg744Ter	coding	Pathogenic
7	150950376	C	T	C150950376T	KCNH2	NM_172056.2(KCNH2):c.2190G>A:p.Leu730=	coding	Benign
7	150950436	G	A	G150950436A	KCNH2	NM_172056.2(KCNH2):c.2146-16C>T	noncoding	Benign
7	150950881	C	T	C150950881T	KCNH2	NM_172056.2(KCNH2):c.2145+40G>A	noncoding	Benign
7	150950882	C	G	C150950882G	KCNH2	NM_172056.2(KCNH2):c.2145+39G>C	noncoding	Benign
7	150950920	C	T	C150950920T	KCNH2	NM_172056.2(KCNH2):c.2145+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	150950962	G	A	G150950962A	KCNH2	NM_172056.2(KCNH2):c.2104C>T:p.Gln702Ter	coding	Pathogenic
7	150950983	G	A	G150950983A	KCNH2	NM_172056.2(KCNH2):c.2083C>T:p.Gln695Ter	coding	Pathogenic/Likely_pathogenic
7	150951004	G	A	G150951004A	KCNH2	NM_172056.2(KCNH2):c.2062C>T:p.Gln688Ter	coding	Pathogenic
7	150951040	G	A	G150951040A	KCNH2	NM_172056.2(KCNH2):c.2026C>T:p.Gln676Ter	coding	Pathogenic
7	150951063	G	T	G150951063T	KCNH2	NM_172056.2(KCNH2):c.2003C>A:p.Ser668Ter	coding	Pathogenic
7	150951097	C	T	C150951097T	KCNH2	NM_172056.2(KCNH2):c.1969G>A:p.Gly657Ser	coding	Pathogenic
7	150951110	A	G	A150951110G	KCNH2	NM_000238.4(KCNH2):c.1956T>C:p.Tyr652=	coding	Benign
7	150951110	A	T	A150951110T	KCNH2	NM_172056.2(KCNH2):c.1956T>A:p.Tyr652Ter	coding	Pathogenic
7	150951121	C	T	C150951121T	KCNH2	NM_172056.2(KCNH2):c.1946-1G>A	coding	Pathogenic
7	150951122	T	G	T150951122G	KCNH2	NM_172056.2(KCNH2):c.1946-2A>C	noncoding	Pathogenic/Likely_pathogenic
7	150951442	A	G	A150951442G	KCNH2	NM_172056.2(KCNH2):c.1945+6T>C	noncoding	Pathogenic
7	150951450	C	T	C150951450T	KCNH2	NM_172056.2(KCNH2):c.1943G>A:p.Gly648Asp	coding	Pathogenic
7	150951460	T	C	T150951460C	KCNH2	NM_172056.2(KCNH2):c.1933A>G:p.Met645Val	coding	Pathogenic
7	150951460	T	G	T150951460G	KCNH2	NM_000238.4(KCNH2):c.1933A>C:p.Met645Leu	coding	Pathogenic
7	150951464	G	T	G150951464T	KCNH2	NM_172056.2(KCNH2):c.1929C>A:p.Cys643Ter	coding	Pathogenic
7	150951470	G	A	G150951470A	KCNH2	NM_172056.2(KCNH2):c.1923C>T:p.Ser641=	coding	Benign/Likely_benign
7	150951471	G	A	G150951471A	KCNH2	NM_172056.2(KCNH2):c.1922C>T:p.Ser641Phe	coding	Pathogenic
7	150951473	G	C	G150951473C	KCNH2	NM_172056.2(KCNH2):c.1920C>G:p.Phe640Leu	coding	Pathogenic
7	150951473	G	T	G150951473T	KCNH2	NM_172056.2(KCNH2):c.1920C>A:p.Phe640Leu	coding	Pathogenic
7	150951480	T	C	T150951480C	KCNH2	NM_172056.2(KCNH2):c.1913A>G:p.Lys638Arg	coding	Pathogenic
7	150951484	C	A	C150951484A	KCNH2	NM_000238.4(KCNH2):c.1909G>T:p.Glu637Ter	coding	Pathogenic
7	150951484	C	T	C150951484T	KCNH2	NM_172056.2(KCNH2):c.1909G>A:p.Glu637Lys	coding	Pathogenic
7	150951493	T	C	T150951493C	KCNH2	NM_172056.2(KCNH2):c.1900A>G:p.Thr634Ala	coding	Pathogenic
7	150951495	T	C	T150951495C	KCNH2	NM_172056.2(KCNH2):c.1898A>G:p.Asn633Ser	coding	Pathogenic/Likely_pathogenic
7	150951499	G	A	G150951499A	KCNH2	NM_172056.2(KCNH2):c.1894C>T:p.Pro632Ser	coding	Pathogenic/Likely_pathogenic
7	150951506	G	A	G150951506A	KCNH2	NM_172056.2(KCNH2):c.1887C>T:p.Asn629=	coding	Benign/Likely_benign
7	150951507	T	C	T150951507C	KCNH2	NM_172056.2(KCNH2):c.1886A>G:p.Asn629Ser	coding	Pathogenic
7	150951507	T	G	T150951507G	KCNH2	NM_172056.2(KCNH2):c.1886A>C:p.Asn629Thr	coding	Pathogenic/Likely_pathogenic
7	150951508	T	C	T150951508C	KCNH2	NM_172056.2(KCNH2):c.1885A>G:p.Asn629Asp	coding	Pathogenic
7	150951511	C	G	C150951511G	KCNH2	NM_172056.2(KCNH2):c.1882G>C:p.Gly628Arg	coding	Pathogenic
7	150951511	C	T	C150951511T	KCNH2	NM_172056.2(KCNH2):c.1882G>A:p.Gly628Ser	coding	Pathogenic
7	150951512	G	T	G150951512T	KCNH2	NM_172056.2(KCNH2):c.1881C>A:p.Phe627Leu	coding	Pathogenic
7	150951545	G	C	G150951545C	KCNH2	NM_172056.2(KCNH2):c.1848C>G:p.Tyr616Ter	coding	Pathogenic
7	150951546	T	C	T150951546C	KCNH2	NM_172056.2(KCNH2):c.1847A>G:p.Tyr616Cys	coding	Pathogenic/Likely_pathogenic
7	150951552	G	A	G150951552A	KCNH2	NM_172056.2(KCNH2):c.1841C>T:p.Ala614Val	coding	Pathogenic
7	150951555	G	A	G150951555A	KCNH2	NM_172056.2(KCNH2):c.1838C>T:p.Thr613Met	coding	Pathogenic/Likely_pathogenic
7	150951556	T	A	T150951556A	KCNH2	NM_172056.2(KCNH2):c.1837A>T:p.Thr613Ser	coding	Pathogenic
7	150951562	A	G	A150951562G	KCNH2	NM_172056.2(KCNH2):c.1831T>C:p.Tyr611His	coding	Pathogenic
7	150951568	C	T	C150951568T	KCNH2	NM_172056.2(KCNH2):c.1825G>A:p.Asp609Asn	coding	Pathogenic
7	150951583	C	T	C150951583T	KCNH2	NM_172056.2(KCNH2):c.1810G>A:p.Gly604Ser	coding	Pathogenic
7	150951584	G	A	G150951584A	KCNH2	NM_172056.2(KCNH2):c.1809C>T:p.Gly603=	coding	Benign
7	150951592	C	T	C150951592T	KCNH2	NM_172056.2(KCNH2):c.1801G>A:p.Gly601Ser	coding	Pathogenic/Likely_pathogenic
7	150951593	G	A	G150951593A	KCNH2	NM_172056.2(KCNH2):c.1800C>T:p.Ser600=	coding	Benign/Likely_benign
7	150951606	G	T	G150951606T	KCNH2	NM_172056.2(KCNH2):c.1787C>A:p.Pro596His	coding	Pathogenic
7	150951607	G	C	G150951607C	KCNH2	NM_172056.2(KCNH2):c.1786C>G:p.Pro596Ala	coding	Pathogenic
7	150951615	A	C	A150951615C	KCNH2	NM_172056.2(KCNH2):c.1778T>G:p.Ile593Arg	coding	Pathogenic
7	150951615	A	G	A150951615G	KCNH2	NM_172056.2(KCNH2):c.1778T>C:p.Ile593Thr	coding	Pathogenic
7	150951615	A	T	A150951615T	KCNH2	NM_172056.2(KCNH2):c.1778T>A:p.Ile593Lys	coding	Pathogenic
7	150951629	G	C	G150951629C	KCNH2	NM_172056.2(KCNH2):c.1764C>G:p.Asn588Lys	coding	Pathogenic
7	150951629	G	T	G150951629T	KCNH2	NM_172056.2(KCNH2):c.1764C>A:p.Asn588Lys	coding	Pathogenic
7	150951643	C	T	C150951643T	KCNH2	NM_000238.4(KCNH2):c.1750G>A:p.Gly584Ser	coding	Pathogenic/Likely_pathogenic
7	150951649	G	A	G150951649A	KCNH2	NM_172056.2(KCNH2):c.1744C>T:p.Arg582Cys	coding	Pathogenic
7	150951651	G	T	G150951651T	KCNH2	NM_172056.2(KCNH2):c.1742C>A:p.Ser581Ter	coding	Pathogenic
7	150951667	G	A	G150951667A	KCNH2	NM_172056.2(KCNH2):c.1726C>T:p.Gln576Ter	coding	Pathogenic
7	150951678	C	A	C150951678A	KCNH2	NM_172056.2(KCNH2):c.1715G>T:p.Gly572Val	coding	Pathogenic
7	150951679	C	G	C150951679G	KCNH2	NM_172056.2(KCNH2):c.1714G>C:p.Gly572Arg	coding	Pathogenic
7	150951679	C	T	C150951679T	KCNH2	NM_172056.2(KCNH2):c.1714G>A:p.Gly572Ser	coding	Pathogenic
7	150951686	G	C	G150951686C	KCNH2	NM_172056.2(KCNH2):c.1707C>G:p.Tyr569Ter	coding	Pathogenic
7	150951689	C	T	C150951689T	KCNH2	NM_172056.2(KCNH2):c.1704G>A:p.Trp568Ter	coding	Pathogenic
7	150951699	G	A	G150951699A	KCNH2	NM_172056.2(KCNH2):c.1694C>T:p.Ala565Val	coding	Pathogenic
7	150951701	T	C	T150951701C	KCNH2	NM_000238.4(KCNH2):c.1692A>G:p.Leu564=	coding	Benign
7	150951704	C	T	C150951704T	KCNH2	NM_172056.2(KCNH2):c.1689G>A:p.Trp563Ter	coding	Pathogenic
7	150951705	C	T	C150951705T	KCNH2	NM_000238.4(KCNH2):c.1688G>A:p.Trp563Ter	coding	Pathogenic
7	150951708	T	C	T150951708C	KCNH2	NM_172056.2(KCNH2):c.1685A>G:p.His562Arg	coding	Pathogenic
7	150951710	C	T	C150951710T	KCNH2	NM_172056.2(KCNH2):c.1683G>A:p.Ala561=	coding	Benign/Likely_benign
7	150951711	G	A	G150951711A	KCNH2	NM_172056.2(KCNH2):c.1682C>T:p.Ala561Val	coding	Pathogenic/Likely_pathogenic
7	150951712	C	G	C150951712G	KCNH2	NM_172056.2(KCNH2):c.1681G>C:p.Ala561Pro	coding	Pathogenic
7	150951712	C	T	C150951712T	KCNH2	NM_172056.2(KCNH2):c.1681G>A:p.Ala561Thr	coding	Pathogenic
7	150951718	G	A	G150951718A	KCNH2	NM_172056.2(KCNH2):c.1675C>T:p.Leu559Phe	coding	Pathogenic
7	150951721	C	G	C150951721G	KCNH2	NM_172056.2(KCNH2):c.1672G>C:p.Ala558Pro	coding	Pathogenic
7	150951738	A	G	A150951738G	KCNH2	NM_172056.2(KCNH2):c.1655T>C:p.Leu552Ser	coding	Pathogenic
7	150951738	A	T	A150951738T	KCNH2	NM_172056.2(KCNH2):c.1655T>A:p.Leu552Ter	coding	Pathogenic
7	150951793	G	A	G150951793A	KCNH2	NM_172056.2(KCNH2):c.1600C>T:p.Arg534Cys	coding	Pathogenic
7	150951795	A	C	A150951795C	KCNH2	NM_172056.2(KCNH2):c.1598T>G:p.Val533Gly	coding	Benign
7	150951812	C	T	C150951812T	KCNH2	NM_172056.2(KCNH2):c.1581G>A:p.Ala527=	coding	Benign/Likely_benign
7	150951840	G	A	G150951840A	KCNH2	NM_172056.2(KCNH2):c.1558-5C>T	noncoding	Benign/Likely_benign
7	150952423	A	G	A150952423G	KCNH2	NM_000238.4(KCNH2):c.1557+2T>C	noncoding	Pathogenic
7	150952424	C	G	C150952424G	KCNH2	NM_172056.2(KCNH2):c.1557+1G>C	noncoding	Pathogenic
7	150952424	C	T	C150952424T	KCNH2	NM_172056.2(KCNH2):c.1557+1G>A	noncoding	Pathogenic
7	150952443	G	A	G150952443A	KCNH2	NM_000238.4(KCNH2):c.1539C>T:p.Phe513=	coding	Benign
7	150952480	T	C	T150952480C	KCNH2	NM_172056.2(KCNH2):c.1502A>G:p.Asp501Gly	coding	Pathogenic
7	150952481	C	T	C150952481T	KCNH2	NM_172056.2(KCNH2):c.1501G>A:p.Asp501Asn	coding	Pathogenic/Likely_pathogenic
7	150952482	G	T	G150952482T	KCNH2	NM_172056.2(KCNH2):c.1500C>A:p.Ile500=	coding	Benign/Likely_benign
7	150952486	A	C	A150952486C	KCNH2	NM_172056.2(KCNH2):c.1496T>G:p.Leu499Arg	coding	Pathogenic
7	150952503	G	T	G150952503T	KCNH2	NM_172056.2(KCNH2):c.1479C>A:p.Tyr493Ter	coding	Pathogenic
7	150952514	C	T	C150952514T	KCNH2	NM_172056.2(KCNH2):c.1468G>A:p.Ala490Thr	coding	Pathogenic
7	150952515	G	A	G150952515A	KCNH2	NM_000238.4(KCNH2):c.1467C>T:p.Ile489=	coding	Benign
7	150952545	G	A	G150952545A	KCNH2	NM_172056.2(KCNH2):c.1437C>T:p.Asn479=	coding	Benign/Likely_benign
7	150952561	G	A	G150952561A	KCNH2	NM_172056.2(KCNH2):c.1421C>T:p.Thr474Ile	coding	Pathogenic
7	150952574	T	C	T150952574C	KCNH2	NM_172056.2(KCNH2):c.1408A>G:p.Asn470Asp	coding	Pathogenic
7	150952629	C	T	C150952629T	KCNH2	NM_172056.2(KCNH2):c.1353G>A:p.Pro451=	coding	Benign/Likely_benign
7	150952650	C	T	C150952650T	KCNH2	NM_172056.2(KCNH2):c.1332G>A:p.Glu444=	coding	Benign/Likely_benign
7	150952652	C	A	C150952652A	KCNH2	NM_172056.2(KCNH2):c.1330G>T:p.Glu444Ter	coding	Pathogenic
7	150952718	C	T	C150952718T	KCNH2	NM_172056.2(KCNH2):c.1264G>A:p.Ala422Thr	coding	Pathogenic
7	150952720	G	T	G150952720T	KCNH2	NM_172056.2(KCNH2):c.1262C>A:p.Thr421Lys	coding	Pathogenic
7	150952753	C	T	C150952753T	KCNH2	NM_000238.4(KCNH2):c.1229G>A:p.Trp410Ter	coding	Pathogenic
7	150952789	C	T	C150952789T	KCNH2	NM_172056.2(KCNH2):c.1193G>A:p.Trp398Ter	coding	Pathogenic
7	150952833	G	A	G150952833A	KCNH2	NM_172056.2(KCNH2):c.1149C>T:p.Asp383=	coding	Benign/Likely_benign
7	150952854	C	T	C150952854T	KCNH2	NM_172056.2(KCNH2):c.1129-1G>A	coding	Pathogenic
7	150952855	T	C	T150952855C	KCNH2	NM_172056.2(KCNH2):c.1129-2A>G	noncoding	Pathogenic
7	150952871	G	A	G150952871A	KCNH2	NM_000238.4(KCNH2):c.1129-18C>T	noncoding	Benign
7	150953097	C	T	C150953097T	KCNH2	NM_172056.2(KCNH2):c.1129-244G>A	noncoding	Benign
7	150955198	C	G	C150955198G	KCNH2	NM_172056.2(KCNH2):c.1128+2093G>C	noncoding	Benign
7	150955507	G	A	G150955507A	KCNH2	NM_172056.2(KCNH2):c.1128+1784C>T	coding	Benign
7	150955515	C	A	C150955515A	KCNH2	NM_000238.4(KCNH2):c.1128+1776G>T	coding	Benign
7	150957284	C	T	C150957284T	KCNH2	NM_172056.2(KCNH2):c.1128+7G>A	noncoding	Benign/Likely_benign
7	150957291	C	T	C150957291T	KCNH2	NM_172056.2(KCNH2):c.1128G>A:p.Gln376=	coding	Pathogenic/Likely_pathogenic
7	150957323	G	A	G150957323A	KCNH2	NM_172056.2(KCNH2):c.1096C>T:p.Arg366Ter	coding	Pathogenic
7	150957363	G	A	G150957363A	KCNH2	NM_172056.2(KCNH2):c.1056C>T:p.Pro352=	coding	Benign/Likely_benign
7	150957416	G	A	G150957416A	KCNH2	NM_000238.4(KCNH2):c.1003C>T:p.Gln335Ter	coding	Pathogenic
7	150957732	T	C	T150957732C	KCNH2	NM_172056.2(KCNH2):c.917-230A>G	noncoding	Benign
7	150958192	C	T	C150958192T	KCNH2	NM_172056.2(KCNH2):c.783G>A:p.Ser261=	coding	Benign/Likely_benign
7	150958226	G	T	G150958226T	KCNH2	NM_172056.2(KCNH2):c.749C>A:p.Ser250Ter	coding	Pathogenic
7	150958290	C	A	C150958290A	KCNH2	NM_172056.2(KCNH2):c.685G>T:p.Glu229Ter	coding	Pathogenic
7	150958354	G	A	G150958354A	KCNH2	NM_172056.2(KCNH2):c.621C>T:p.Ser207=	coding	Benign/Likely_benign
7	150958417	G	A	G150958417A	KCNH2	NM_172056.2(KCNH2):c.558C>T:p.Gly186=	coding	Benign/Likely_benign
7	150958430	G	T	G150958430T	KCNH2	NM_172056.2(KCNH2):c.545C>A:p.Ser182Ter	coding	Pathogenic
7	150958433	C	T	C150958433T	KCNH2	NM_172056.2(KCNH2):c.542G>A:p.Arg181Gln	coding	Benign/Likely_benign
7	150959494	G	A	G150959494A	KCNH2	NM_172056.2(KCNH2):c.472+78C>T	noncoding	Benign
7	150959571	C	T	C150959571T	KCNH2	NM_172056.2(KCNH2):c.472+1G>A	noncoding	Pathogenic
7	150959583	C	T	C150959583T	KCNH2	NM_172056.2(KCNH2):c.461G>A:p.Trp154Ter	coding	Pathogenic
7	150959603	G	A	G150959603A	KCNH2	NM_172056.2(KCNH2):c.441C>T:p.His147=	coding	Benign/Likely_benign
7	150959657	G	C	G150959657C	KCNH2	NM_172056.2(KCNH2):c.387C>G:p.Phe129Leu	coding	Pathogenic
7	150959700	A	C	A150959700C	KCNH2	NM_172056.2(KCNH2):c.344T>G:p.Val115Gly	coding	Pathogenic
7	150959718	A	C	A150959718C	KCNH2	NM_172056.2(KCNH2):c.326T>G:p.Leu109Arg	coding	Benign
7	150960007	G	A	G150960007A	KCNH2	NM_172056.2(KCNH2):c.308-271C>T	noncoding	Benign
7	150974715	T	A	T150974715A	KCNH2	NM_172056.2(KCNH2):c.303A>T:p.Lys101Asn	coding	Pathogenic
7	150974717	T	A	T150974717A	KCNH2	NM_172056.2(KCNH2):c.301A>T:p.Lys101Ter	coding	Pathogenic
7	150974718	C	A	C150974718A	KCNH2	NM_172056.2(KCNH2):c.300G>T:p.Arg100=	coding	Benign
7	150974719	C	T	C150974719T	KCNH2	NM_172056.2(KCNH2):c.299G>A:p.Arg100Gln	coding	Pathogenic
7	150974722	T	C	T150974722C	KCNH2	NM_172056.2(KCNH2):c.296A>G:p.Tyr99Cys	coding	Pathogenic
7	150974803	G	A	G150974803A	KCNH2	NM_172056.2(KCNH2):c.215C>T:p.Pro72Leu	coding	Pathogenic
7	150974803	G	T	G150974803T	KCNH2	NM_172056.2(KCNH2):c.215C>A:p.Pro72Gln	coding	Pathogenic/Likely_pathogenic
7	150974804	G	A	G150974804A	KCNH2	NM_172056.2(KCNH2):c.214C>T:p.Pro72Ser	coding	Pathogenic
7	150974807	C	G	C150974807G	KCNH2	NM_172056.2(KCNH2):c.211G>C:p.Gly71Arg	coding	Pathogenic
7	150974809	T	C	T150974809C	KCNH2	NM_172056.2(KCNH2):c.209A>G:p.His70Arg	coding	Pathogenic/Likely_pathogenic
7	150974820	G	T	G150974820T	KCNH2	NM_000238.4(KCNH2):c.198C>A:p.Cys66Ter	coding	Pathogenic
7	150974825	T	G	T150974825G	KCNH2	NM_172056.2(KCNH2):c.193A>C:p.Thr65Pro	coding	Pathogenic
7	150974845	T	C	T150974845C	KCNH2	NM_172056.2(KCNH2):c.173A>G:p.Glu58Gly	coding	Pathogenic
7	150974854	G	A	G150974854A	KCNH2	NM_172056.2(KCNH2):c.164C>T:p.Ser55Leu	coding	Pathogenic
7	150974854	G	T	G150974854T	KCNH2	NM_172056.2(KCNH2):c.164C>A:p.Ser55Ter	coding	Pathogenic/Likely_pathogenic
7	150974856	G	C	G150974856C	KCNH2	NM_172056.2(KCNH2):c.162C>G:p.Tyr54Ter	coding	Pathogenic
7	150974861	C	G	C150974861G	KCNH2	NM_172056.2(KCNH2):c.157G>C:p.Gly53Arg	coding	Pathogenic/Likely_pathogenic
7	150974862	G	T	G150974862T	KCNH2	NM_172056.2(KCNH2):c.156C>A:p.Cys52Ter	coding	Pathogenic
7	150974871	G	C	G150974871C	KCNH2	NM_172056.2(KCNH2):c.147C>G:p.Cys49Trp	coding	Pathogenic
7	150974879	C	A	C150974879A	KCNH2	NM_172056.2(KCNH2):c.139G>T:p.Gly47Cys	coding	Pathogenic/Likely_pathogenic
7	150974890	T	C	T150974890C	KCNH2	NM_172056.2(KCNH2):c.128A>G:p.Tyr43Cys	coding	Pathogenic/Likely_pathogenic
7	150974893	A	G	A150974893G	KCNH2	NM_172056.2(KCNH2):c.125T>C:p.Ile42Thr	coding	Pathogenic
7	150974923	G	A	G150974923A	KCNH2	NM_000238.4(KCNH2):c.95C>T:p.Ala32Val	coding	Pathogenic
7	150974926	A	G	A150974926G	KCNH2	NM_172056.2(KCNH2):c.92T>C:p.Ile31Thr	coding	Pathogenic
7	150974931	G	T	G150974931T	KCNH2	NM_172056.2(KCNH2):c.87C>A:p.Phe29Leu	coding	Pathogenic
7	150977677	C	G	C150977677G	KCNH2	NM_172056.2(KCNH2):c.76+161G>C	noncoding	Benign
7	150977836	A	C	A150977836C	KCNH2	NM_172056.2(KCNH2):c.76+2T>G	noncoding	Pathogenic
7	150977883	G	A	G150977883A	KCNH2	NM_172056.2(KCNH2):c.31C>T:p.Gln11Ter	coding	Pathogenic
7	150996516	G	A	G150996516A	NOS3	NM_000603.5(NOS3):c.383G>A:p.Arg128Gln	coding	Benign
7	150996808	C	G	C150996808G	NOS3	NM_000603.5(NOS3):c.465C>G:p.Ala155=	coding	Benign
7	150998638	T	C	T150998638C	NOS3	NM_000603.5(NOS3):c.774T>C:p.Asp258=	coding	Benign
7	150998978	C	T	C150998978T	NOS3	NM_000603.5(NOS3):c.849C>T:p.Asn283=	coding	Benign
7	150998988	G	A	G150998988A	NOS3	NM_000603.5(NOS3):c.859G>A:p.Asp287Asn	coding	Benign
7	150998990	C	T	C150998990T	NOS3	NM_000603.5(NOS3):c.861C>T:p.Asp287=	coding	Benign
7	150999023	T	G	T150999023G	NOS3	NM_000603.5(NOS3):c.894T>G:p.Asp298Glu	coding	Benign
7	150999183	C	T	C150999183T	NOS3	NM_000603.5(NOS3):c.957-7C>T	noncoding	Benign
7	151007158	G	A	G151007158A	NOS3	NM_000603.5(NOS3):c.1994G>A:p.Arg665His	coding	Benign
7	151007162	C	G	C151007162G	NOS3	NM_000603.5(NOS3):c.1998C>G:p.Ala666=	coding	Benign
7	151009533	G	A	G151009533A	NOS3	NM_000603.5(NOS3):c.2460G>A:p.Pro820=	coding	Benign
7	151010224	G	A	G151010224A	NOS3	NM_000603.5(NOS3):c.2622G>A:p.Leu874=	coding	Benign
7	151010256	G	T	G151010256T	NOS3	NM_000603.5(NOS3):c.2654G>T:p.Arg885Met	coding	Benign
7	151010725	G	T	G151010725T	NOS3	NM_000603.5(NOS3):c.2814G>T:p.Arg938=	coding	Benign
7	151011001	A	G	A151011001G	NOS3	NM_000603.5(NOS3):c.2984+15A>G	noncoding	Benign
7	151012483	G	T	G151012483T	NOS3	NM_000603.5(NOS3):c.3106+11G>T	coding	Benign
7	151013304	G	A	G151013304A	NOS3	NM_000603.5(NOS3):c.3180G>A:p.Glu1060=	coding	Benign
7	151013792	G	C	G151013792C	NOS3	NM_000603.5(NOS3):c.3324G>C:p.Arg1108=	coding	Benign
7	151013819	T	C	T151013819C	NOS3	NM_000603.5(NOS3):c.3351T>C:p.Val1117=	coding	Benign
7	151013882	G	A	G151013882A	NOS3	NM_000603.5(NOS3):c.3414G>A:p.Glu1138=	coding	Benign
7	151014031	C	T	C151014031T	NOS3	NM_000603.5(NOS3):c.3474C>T:p.Asp1158=	coding	Benign
7	151014055	C	A	C151014055A	NOS3	NM_000603.5(NOS3):c.3498C>A:p.Thr1166=	coding	Benign
7	151033625	G	A	G151033625A	ABCB8	NM_007188.5(ABCB8):c.116G>A:p.Ser39Asn	coding	Benign
7	151033812	C	T	C151033812T	ABCB8	NM_007188.5(ABCB8):c.303C>T:p.Ala101=	coding	Benign
7	151033839	C	T	C151033839T	ABCB8	NM_007188.5(ABCB8):c.330C>T:p.Val110=	coding	Benign
7	151033879	C	G	C151033879G	ABCB8	NM_007188.5(ABCB8):c.370C>G:p.Leu124Val	coding	Benign
7	151034432	C	T	C151034432T	ABCB8	NM_007188.5(ABCB8):c.564+4C>T	noncoding	Benign
7	151034543	C	T	C151034543T	ABCB8	NM_007188.5(ABCB8):c.603C>T:p.His201=	coding	Benign
7	151040601	G	T	G151040601T	ABCB8	NM_007188.5(ABCB8):c.1355G>T:p.Arg452Leu	coding	Benign
7	151044104	A	G	A151044104G	ABCB8	NM_007188.5(ABCB8):c.1899A>G:p.Val633=	coding	Benign
7	151049265	G	A	G151049265A	ASIC3	NM_004769.4(ASIC3):c.380G>A:p.Arg127His	coding	Benign
7	151050809	C	T	C151050809T	ASIC3	NM_004769.4(ASIC3):c.865C>T:p.Pro289Ser	coding	Benign
7	151055276	C	T	C151055276T	CDK5	NM_004935.4(CDK5):c.580+1G>A	noncoding	Pathogenic
7	151076298	C	T	C151076298T	SLC4A2	NM_003040.4(SLC4A2):c.3657C>T:p.Asn1219=	coding	Benign
7	151176244	C	T	C151176244T	ASB10	NM_001142459.2(ASB10):c.1272G>A:p.Ser424=	coding	Benign
7	151176649	G	A	G151176649A	ASB10	NM_001142459.2(ASB10):c.1132C>T:p.Arg378Trp	coding	Benign
7	151176667	G	A	G151176667A	ASB10	NM_001142459.2(ASB10):c.1114C>T:p.Arg372Cys	coding	Benign
7	151181133	G	A	G151181133A	ASB10	NM_001142459.2(ASB10):c.910C>T:p.Arg304Cys	coding	Benign
7	151181173	C	G	C151181173G	ASB10	NM_001142459.2(ASB10):c.870G>C:p.Ala290=	coding	Benign
7	151181233	G	A	G151181233A	ASB10	NM_001142459.2(ASB10):c.810C>T:p.Thr270=	coding	Pathogenic
7	151181245	G	A	G151181245A	ASB10	NM_001142459.2(ASB10):c.798C>T:p.Ala266=	coding	Benign
7	151181334	G	C	G151181334C	ASB10	NM_001142459.2(ASB10):c.709C>G:p.Arg237Gly	coding	Benign
7	151181424	C	G	C151181424G	ASB10	NM_001142459.2(ASB10):c.619G>C:p.Val207Leu	coding	Pathogenic
7	151186412	G	T	G151186412T	ASB10	NM_001142459.2(ASB10):c.564C>A:p.Cys188Ter	coding	Pathogenic
7	151186584	A	G	A151186584G	ASB10	NM_001142459.2(ASB10):c.392T>C:p.Val131Ala	coding	Benign
7	151186907	G	T	G151186907T	ASB10	NM_001142459.2(ASB10):c.224C>A:p.Ala75Glu	coding	Benign
7	151235545	G	A	G151235545A	CHPF2	NM_019015.2(CHPF2):c.761G>A:p.Arg254His	coding	Benign
7	151237741	G	A	G151237741A	CHPF2	NM_019015.2(CHPF2):c.1379G>A:p.Arg460Gln	coding	Benign
7	151345361	G	T	G151345361T	NUB1	NM_001243351.1(NUB1):c.84G>T:p.Lys28Asn	coding	Benign
7	151436295	C	T	C151436295T	CRYGN	NM_144727.3(CRYGN):c.301G>A:p.Glu101Lys	coding	Benign
7	151439903	C	T	C151439903T	CRYGN	NM_144727.3(CRYGN):c.15G>A:p.Ser5=	coding	Benign
7	151556140	C	T	C151556140T	PRKAG2	NM_016203.4(PRKAG2):c.*1061G>A	noncoding	Benign
7	151556679	C	A	C151556679A	PRKAG2	NM_016203.4(PRKAG2):c.*522G>T	noncoding	Benign
7	151556749	G	A	G151556749A	PRKAG2	NM_016203.4(PRKAG2):c.*452C>T	noncoding	Benign/Likely_benign
7	151557089	T	C	T151557089C	PRKAG2	NM_016203.4(PRKAG2):c.*112A>G	noncoding	Benign
7	151557198	C	T	C151557198T	PRKAG2	NM_016203.4(PRKAG2):c.*3G>A	noncoding	Benign/Likely_benign
7	151557207	C	T	C151557207T	PRKAG2	NM_016203.4(PRKAG2):c.1704G>A:p.Thr568=	coding	Benign/Likely_benign
7	151557251	T	A	T151557251A	PRKAG2	NM_016203.4(PRKAG2):c.1679-19A>T	noncoding	Benign/Likely_benign
7	151557357	G	A	G151557357A	PRKAG2	NM_016203.4(PRKAG2):c.1679-125C>T	noncoding	Benign
7	151557490	T	C	T151557490C	PRKAG2	NM_016203.4(PRKAG2):c.1679-258A>G	noncoding	Benign
7	151560579	A	G	A151560579G	PRKAG2	NM_016203.4(PRKAG2):c.1623T>C:p.Ile541=	coding	Benign
7	151560609	C	T	C151560609T	PRKAG2	NM_016203.4(PRKAG2):c.1593G>A:p.Arg531=	coding	Benign/Likely_benign
7	151560610	C	A	C151560610A	PRKAG2	NM_016203.4(PRKAG2):c.1592G>T:p.Arg531Leu	coding	Pathogenic/Likely_pathogenic
7	151560610	C	T	C151560610T	PRKAG2	NM_016203.4(PRKAG2):c.1592G>A:p.Arg531Gln	coding	Pathogenic
7	151560611	G	C	G151560611C	PRKAG2	NM_016203.4(PRKAG2):c.1591C>G:p.Arg531Gly	coding	Pathogenic
7	151560613	T	C	T151560613C	PRKAG2	NM_016203.4(PRKAG2):c.1589A>G:p.His530Arg	coding	Pathogenic
7	151560614	G	C	G151560614C	PRKAG2	NM_016203.4(PRKAG2):c.1588C>G:p.His530Asp	coding	Pathogenic
7	151560621	C	T	C151560621T	PRKAG2	NM_016203.4(PRKAG2):c.1585-4G>A	noncoding	Benign/Likely_benign
7	151564199	T	A	T151564199A	PRKAG2	NM_016203.4(PRKAG2):c.1463A>T:p.Asn488Ile	coding	Pathogenic
7	151565823	C	T	C151565823T	PRKAG2	NM_016203.4(PRKAG2):c.1296G>A:p.Thr432=	coding	Benign
7	151565902	C	T	C151565902T	PRKAG2	NM_016203.4(PRKAG2):c.1234-17G>A	noncoding	Benign
7	151568798	C	G	C151568798G	PRKAG2	NM_016203.4(PRKAG2):c.1151G>C:p.Arg384Thr	coding	Pathogenic
7	151570267	G	A	G151570267A	PRKAG2	NM_016203.4(PRKAG2):c.1052-42C>T	noncoding	Benign
7	151570489	G	T	G151570489T	PRKAG2	NM_016203.4(PRKAG2):c.1052-264C>A	noncoding	Benign
7	151572628	G	A	G151572628A	PRKAG2	NM_016203.4(PRKAG2):c.1051+36C>T	noncoding	Benign
7	151572830	C	T	C151572830T	PRKAG2	NM_016203.4(PRKAG2):c.1006-121G>A	noncoding	Benign
7	151575175	A	G	A151575175G	PRKAG2	NM_016203.4(PRKAG2):c.947-226T>C	noncoding	Benign
7	151576412	C	T	C151576412T	PRKAG2	NM_016203.4(PRKAG2):c.905G>A:p.Arg302Gln	coding	Pathogenic
7	151576448	T	A	T151576448A	PRKAG2	NM_016203.4(PRKAG2):c.869A>T:p.Lys290Ile	coding	Pathogenic
7	151595399	A	G	A151595399G	PRKAG2	NM_016203.4(PRKAG2):c.810T>C:p.Cys270=	coding	Benign/Likely_benign
7	151675465	G	A	G151675465A	PRKAG2	NM_016203.4(PRKAG2):c.639C>T:p.Thr213=	coding	Benign
7	151675513	G	A	G151675513A	PRKAG2	NM_016203.4(PRKAG2):c.591C>T:p.Pro197=	coding	Benign/Likely_benign
7	151675557	C	T	C151675557T	PRKAG2	NM_016203.4(PRKAG2):c.547G>A:p.Glu183Lys	coding	Pathogenic
7	151675573	C	A	C151675573A	PRKAG2	NM_016203.4(PRKAG2):c.531G>T:p.Leu177=	coding	Benign/Likely_benign
7	151675658	A	G	A151675658G	PRKAG2	NM_016203.4(PRKAG2):c.467-21T>C	noncoding	Benign
7	151781411	C	T	C151781411T	PRKAG2	NM_016203.4(PRKAG2):c.207G>A:p.Pro69=	coding	Benign
7	151781510	T	C	T151781510C	PRKAG2	NM_016203.4(PRKAG2):c.187-79A>G	noncoding	Benign
7	151781723	C	T	C151781723T	PRKAG2	NM_016203.4(PRKAG2):c.187-292G>A	noncoding	Benign
7	151786361	A	G	A151786361G	PRKAG2	NM_016203.4(PRKAG2):c.186+109T>C	noncoding	Benign
7	151786810	C	G	C151786810G	PRKAG2	NM_016203.4(PRKAG2):c.115-269G>C	noncoding	Benign
7	151876464	G	A	G151876464A	PRKAG2	NM_016203.4(PRKAG2):c.114+43C>T	noncoding	Benign
7	151876495	G	A	G151876495A	PRKAG2	NM_016203.4(PRKAG2):c.114+12C>T	noncoding	Benign
7	151876562	C	A	C151876562A	PRKAG2	NM_016203.4(PRKAG2):c.59G>T:p.Ser20Ile	coding	Benign/Likely_benign
7	151876646	G	A	G151876646A	PRKAG2	NM_016203.4(PRKAG2):c.-26C>T	noncoding	Benign
7	151876650	C	T	C151876650T	PRKAG2	NM_016203.4(PRKAG2):c.-30G>A	noncoding	Benign
7	151876710	C	A	C151876710A	PRKAG2	NM_016203.4(PRKAG2):c.-90G>T	noncoding	Benign/Likely_benign
7	151877389	C	G	C151877389G	PRKAG2	NC_000007.14:g.151877389C>G	noncoding	Benign
7	151971066	G	C	G151971066C	GALNTL5	NM_145292.4(GALNTL5):c.368+1G>C	coding	Benign
7	151971074	T	C	T151971074C	GALNTL5	NM_145292.4(GALNTL5):c.368+9T>C	noncoding	Benign
7	151983045	A	G	A151983045G	GALNTL5	NM_145292.4(GALNTL5):c.428A>G:p.Tyr143Cys	coding	Benign
7	151983160	A	G	A151983160G	GALNTL5	NM_145292.4(GALNTL5):c.535+8A>G	noncoding	Benign
7	151987161	G	T	G151987161T	GALNTL5	NM_145292.4(GALNTL5):c.538G>T:p.Asp180Tyr	coding	Benign
7	151987209	G	A	G151987209A	GALNTL5	NM_145292.4(GALNTL5):c.586G>A:p.Val196Ile	coding	Benign
7	151987240	G	C	G151987240C	GALNTL5	NM_145292.4(GALNTL5):c.617G>C:p.Gly206Ala	coding	Benign
7	152103143	C	T	C152103143T	GALNT11	NM_022087.4(GALNT11):c.451C>T:p.Pro151Ser	coding	Benign
7	152121639	G	A	G152121639A	GALNT11	NM_022087.4(GALNT11):c.1789G>A:p.Asp597Asn	coding	Benign
7	152152730	A	G	A152152730G	KMT2C	NM_170606.3(KMT2C):c.12501T>C:p.Asn4167=	coding	Benign
7	152152816	G	A	G152152816A	KMT2C	NM_170606.3(KMT2C):c.12415C>T:p.Arg4139Ter	coding	Pathogenic
7	152154091	C	T	C152154091T	KMT2C	NM_170606.3(KMT2C):c.12195G>A:p.Ala4065=	coding	Benign
7	152156005	G	A	G152156005A	KMT2C	NM_170606.3(KMT2C):c.11865C>T:p.Asp3955=	coding	Benign
7	152162203	G	T	G152162203T	KMT2C	NM_170606.3(KMT2C):c.11374C>A:p.Gln3792Lys	coding	Benign
7	152162410	C	G	C152162410G	KMT2C	NM_170606.3(KMT2C):c.11167G>C:p.Ala3723Pro	coding	Benign
7	152162438	G	A	G152162438A	KMT2C	NM_170606.3(KMT2C):c.11139C>T:p.Ala3713=	coding	Benign
7	152162666	G	A	G152162666A	KMT2C	NM_170606.3(KMT2C):c.10911C>T:p.Ile3637=	coding	Benign
7	152162938	A	G	A152162938G	KMT2C	NM_170606.3(KMT2C):c.10639T>C:p.Ser3547Pro	coding	Benign
7	152163145	G	C	G152163145C	KMT2C	NM_170606.3(KMT2C):c.10432C>G:p.Gln3478Glu	coding	Benign
7	152163364	G	A	G152163364A	KMT2C	NM_170606.3(KMT2C):c.10213C>T:p.Arg3405Ter	coding	Pathogenic
7	152176303	T	C	T152176303C	KMT2C	NM_170606.3(KMT2C):c.9150A>G:p.Glu3050=	coding	Benign
7	152176510	A	G	A152176510G	KMT2C	NM_170606.3(KMT2C):c.8943T>C:p.His2981=	coding	Benign
7	152177427	G	A	G152177427A	KMT2C	NM_170606.3(KMT2C):c.8026C>T:p.Gln2676Ter	coding	Pathogenic
7	152177496	G	C	G152177496C	KMT2C	NM_170606.3(KMT2C):c.7957C>G:p.Leu2653Val	coding	Benign
7	152177962	G	A	G152177962A	KMT2C	NM_170606.3(KMT2C):c.7491C>T:p.Arg2497=	coding	Benign
7	152180804	G	C	G152180804C	KMT2C	NM_170606.3(KMT2C):c.7056C>G:p.Val2352=	coding	Benign
7	152181521	T	G	T152181521G	KMT2C	NM_170606.3(KMT2C):c.6339A>C:p.Ser2113=	coding	Benign
7	152181644	A	C	A152181644C	KMT2C	NM_170606.3(KMT2C):c.6216T>G:p.Tyr2072Ter	coding	Pathogenic
7	152181838	T	C	T152181838C	KMT2C	NM_170606.3(KMT2C):c.6022A>G:p.Thr2008Ala	coding	Benign
7	152182499	T	C	T152182499C	KMT2C	NM_170606.3(KMT2C):c.5361A>G:p.Gln1787=	coding	Benign
7	152182505	T	C	T152182505C	KMT2C	NM_170606.3(KMT2C):c.5355A>G:p.Gln1785=	coding	Benign
7	152187362	C	T	C152187362T	KMT2C	NM_170606.3(KMT2C):c.4908G>A:p.Thr1636=	coding	Benign
7	152205112	C	G	C152205112G	KMT2C	NM_170606.3(KMT2C):c.3955G>C:p.Asp1319His	coding	Benign
7	152229936	C	A	C152229936A	KMT2C	NM_170606.3(KMT2C):c.2963G>T:p.Cys988Phe	coding	Benign
7	152238822	G	A	G152238822A	KMT2C	NM_170606.3(KMT2C):c.2537C>T:p.Ala846Val	coding	Benign
7	152247896	C	A	C152247896A	KMT2C	NM_170606.3(KMT2C):c.2532+6G>T	noncoding	Benign
7	152252650	T	C	T152252650C	KMT2C	NM_170606.3(KMT2C):c.1365A>G:p.Ile455Met	coding	Benign
7	152315168	G	C	G152315168C	KMT2C	NM_170606.3(KMT2C):c.560C>G:p.Ser187Ter	coding	Pathogenic
7	152358677	T	C	T152358677C	KMT2C	NM_170606.3(KMT2C):c.162-2A>G	noncoding	Pathogenic
7	152648641	A	G	A152648641G	XRCC2	NM_005431.2(XRCC2):c.*1T>C	noncoding	Benign
7	152648660	A	G	A152648660G	XRCC2	NM_005431.2(XRCC2):c.825T>C:p.Ser275=	coding	Benign/Likely_benign
7	152648677	A	C	A152648677C	XRCC2	NM_005431.2(XRCC2):c.808T>G:p.Phe270Val	coding	Benign/Likely_benign
7	152648807	A	G	A152648807G	XRCC2	NM_005431.2(XRCC2):c.678T>C:p.Tyr226=	coding	Benign/Likely_benign
7	152648922	C	T	C152648922T	XRCC2	NM_005431.2(XRCC2):c.563G>A:p.Arg188His	coding	Benign
7	152649008	G	A	G152649008A	XRCC2	NM_005431.2(XRCC2):c.477C>T:p.Arg159=	coding	Benign/Likely_benign
7	152649131	C	T	C152649131T	XRCC2	NM_005431.2(XRCC2):c.354G>A:p.Val118=	coding	Benign/Likely_benign
7	152649185	T	C	T152649185C	XRCC2	NM_005431.2(XRCC2):c.300A>G:p.Leu100=	coding	Benign/Likely_benign
7	152649203	T	C	T152649203C	XRCC2	NM_005431.2(XRCC2):c.282A>G:p.Thr94=	coding	Benign/Likely_benign
7	152649295	G	A	G152649295A	XRCC2	NM_005431.2(XRCC2):c.190C>T:p.Arg64Ter	coding	Pathogenic/Likely_pathogenic
7	152660792	G	A	G152660792A	XRCC2	NM_005431.2(XRCC2):c.40-10C>T	noncoding	Benign/Likely_benign
7	152660798	A	G	A152660798G	XRCC2	NM_005431.2(XRCC2):c.40-16T>C	noncoding	Benign/Likely_benign
7	152675839	G	A	G152675839A	XRCC2	NM_005431.2(XRCC2):c.39+202C>T	noncoding	Benign
7	152676127	C	T	C152676127T	XRCC2	NM_005431.2(XRCC2):c.-48G>A	noncoding	Benign
7	152676129	C	T	C152676129T	XRCC2	NM_005431.2(XRCC2):c.-50G>A	noncoding	Benign
7	154305155	C	T	C154305155T	DPP6	NM_130797.4(DPP6):c.244-141059C>T	noncoding	Pathogenic
7	154794095	A	C	A154794095C	DPP6	NM_130797.4(DPP6):c.1153A>C:p.Met385Leu	coding	Pathogenic
7	155071199	C	T	C155071199T	HTR5A	NM_024012.3(HTR5A):c.300C>T:p.His100=	coding	Benign
7	155071466	C	T	C155071466T	HTR5A	NM_024012.3(HTR5A):c.567C>T:p.Ser189=	coding	Benign
7	155071520	C	T	C155071520T	HTR5A	NM_024012.3(HTR5A):c.621C>T:p.Gly207=	coding	Benign
7	155084202	C	T	C155084202T	HTR5A	NM_024012.3(HTR5A):c.789C>T:p.His263=	coding	Benign
7	155084262	C	T	C155084262T	HTR5A	NM_024012.3(HTR5A):c.849C>T:p.Ala283=	coding	Benign
7	155302843	T	C	T155302843C	INSIG1	NM_005542.6(INSIG1):c.801T>C:p.Ala267=	coding	Benign
7	155458608	C	G	C155458608G	EN2	NM_001427.4(EN2):c.231C>G:p.Pro77=	coding	Benign
7	155458977	G	C	G155458977C	EN2	NM_001427.4(EN2):c.600G>C:p.Ser200=	coding	Benign
7	155462645	C	T	C155462645T	EN2	NM_001427.4(EN2):c.960C>T:p.Asn320=	coding	Benign
7	155739711	G	A	G155739711A	RBM33	NM_053043.3(RBM33):c.1738-4G>A	noncoding	Benign
7	155800141	C	T	C155800141T	SHH	NM_000193.4(SHH):c.*2759G>A	coding	Benign
7	155802982	G	T	G155802982T	SHH	NM_000193.4(SHH):c.1307C>A:p.Ser436Ter	coding	Pathogenic
7	155803019	G	C	G155803019C	SHH	NM_000193.4(SHH):c.1270C>G:p.Pro424Ala	coding	Pathogenic
7	155803249	G	A	G155803249A	SHH	NM_000193.4(SHH):c.1040C>T:p.Pro347Leu	coding	Pathogenic
7	155803271	C	A	C155803271A	SHH	NM_000193.4(SHH):c.1018G>T:p.Glu340Ter	coding	Pathogenic
7	155803284	C	T	C155803284T	SHH	NM_000193.4(SHH):c.1005G>A:p.Val335=	coding	Benign
7	155803294	A	G	A155803294G	SHH	NM_000193.4(SHH):c.995T>C:p.Val332Ala	coding	Pathogenic
7	155803331	C	A	C155803331A	SHH	NM_000193.4(SHH):c.958G>T:p.Glu320Ter	coding	Pathogenic
7	155803392	C	G	C155803392G	SHH	NM_000193.4(SHH):c.897G>C:p.Leu299=	coding	Benign
7	155803420	C	T	C155803420T	SHH	NM_000193.4(SHH):c.869G>A:p.Gly290Asp	coding	Benign/Likely_benign
7	155803439	C	A	C155803439A	SHH	NM_000193.4(SHH):c.850G>T:p.Glu284Ter	coding	Pathogenic
7	155803464	C	T	C155803464T	SHH	NM_000193.4(SHH):c.825G>A:p.Ala275=	coding	Benign
7	155803523	C	A	C155803523A	SHH	NM_000193.4(SHH):c.766G>T:p.Glu256Ter	coding	Pathogenic
7	155803581	G	T	G155803581T	SHH	NM_000193.4(SHH):c.708C>A:p.Ser236Arg	coding	Pathogenic
7	155803613	C	T	C155803613T	SHH	NM_000193.4(SHH):c.676G>A:p.Ala226Thr	coding	Pathogenic/Likely_pathogenic
7	155803618	A	T	A155803618T	SHH	NM_000193.4(SHH):c.671T>A:p.Val224Glu	coding	Pathogenic
7	155803625	C	T	C155803625T	SHH	NM_000193.4(SHH):c.664G>A:p.Asp222Asn	coding	Pathogenic
7	155803659	G	A	G155803659A	SHH	NM_000193.4(SHH):c.630C>T:p.Gly210=	coding	Benign
7	155803664	G	A	G155803664A	SHH	NM_000193.4(SHH):c.625C>T:p.Gln209Ter	coding	Pathogenic
7	155803696	C	T	C155803696T	SHH	NM_000193.4(SHH):c.593G>A:p.Cys198Tyr	coding	Pathogenic
7	155803697	A	G	A155803697G	SHH	NM_000193.4(SHH):c.592T>C:p.Cys198Arg	coding	Pathogenic
7	155803704	C	T	C155803704T	SHH	NM_000193.4(SHH):c.585G>A:p.Ser195=	coding	Benign
7	155803719	C	T	C155803719T	SHH	NM_000193.4(SHH):c.570G>A:p.Ser190=	coding	Benign/Likely_benign
7	155805972	T	C	T155805972C	SHH	NM_000193.4(SHH):c.562+324A>G	noncoding	Benign
7	155805977	C	A	C155805977A	SHH	NM_000193.4(SHH):c.562+319G>T	noncoding	Benign
7	155806185	A	C	A155806185C	SHH	NM_000193.4(SHH):c.562+111T>G	noncoding	Benign
7	155806296	C	G	C155806296G	SHH	NM_000193.4(SHH):c.562G>C:p.Glu188Gln	coding	Pathogenic
7	155806384	G	C	G155806384C	SHH	NM_000193.4(SHH):c.474C>G:p.Tyr158Ter	coding	Pathogenic
7	155806435	G	T	G155806435T	SHH	NM_000193.4(SHH):c.423C>A:p.Tyr141Ter	coding	Pathogenic
7	155806475	C	T	C155806475T	SHH	NM_000193.4(SHH):c.383G>A:p.Trp128Ter	coding	Pathogenic
7	155806509	A	C	A155806509C	SHH	NM_000193.4(SHH):c.349T>G:p.Trp117Gly	coding	Pathogenic
7	155806509	A	G	A155806509G	SHH	NM_000193.4(SHH):c.349T>C:p.Trp117Arg	coding	Pathogenic
7	155806513	G	T	G155806513T	SHH	NM_000193.4(SHH):c.345C>A:p.Asn115Lys	coding	Pathogenic
7	155806527	T	A	T155806527A	SHH	NM_000193.4(SHH):c.331A>T:p.Ile111Phe	coding	Pathogenic
7	155806545	T	A	T155806545A	SHH	NM_000193.4(SHH):c.313A>T:p.Lys105Ter	coding	Pathogenic
7	155806606	C	T	C155806606T	SHH	NM_000193.4(SHH):c.301-49G>A	noncoding	Benign
7	155806720	G	A	G155806720A	SHH	NM_000193.4(SHH):c.301-163C>T	coding	Benign
7	155811806	C	T	C155811806T	SHH	NM_000193.4(SHH):c.300+17G>A	noncoding	Benign
7	155811823	C	G	C155811823G	SHH	NM_000193.4(SHH):c.300G>C:p.Gln100His	coding	Pathogenic
7	155811825	G	A	G155811825A	SHH	NM_000193.4(SHH):c.298C>T:p.Gln100Ter	coding	Pathogenic
7	155811860	T	A	T155811860A	SHH	NM_000193.4(SHH):c.263A>T:p.Asp88Val	coding	Pathogenic
7	155811909	G	A	G155811909A	SHH	NM_000193.4(SHH):c.214C>T:p.Arg72Ter	coding	Pathogenic
7	155812032	C	T	C155812032T	SHH	NM_000193.4(SHH):c.91G>A:p.Gly31Arg	coding	Pathogenic
7	155812247	C	T	C155812247T	SHH	NM_000193.4(SHH):c.-125G>A	noncoding	Benign
7	156680871	A	C	A156680871C	LMBR1	NM_022458.4(LMBR1):c.*3207T>G	noncoding	Benign
7	156681152	C	G	C156681152G	LMBR1	NM_022458.4(LMBR1):c.*2926G>C	noncoding	Benign
7	156681173	A	T	A156681173T	LMBR1	NM_022458.4(LMBR1):c.*2905T>A	noncoding	Benign
7	156681258	C	T	C156681258T	LMBR1	NM_022458.4(LMBR1):c.*2820G>A	noncoding	Benign
7	156681317	C	T	C156681317T	LMBR1	NM_022458.4(LMBR1):c.*2761G>A	noncoding	Benign
7	156681411	T	A	T156681411A	LMBR1	NM_022458.4(LMBR1):c.*2667A>T	noncoding	Benign
7	156681469	G	A	G156681469A	LMBR1	NM_022458.4(LMBR1):c.*2609C>T	noncoding	Benign
7	156681475	T	C	T156681475C	LMBR1	NM_022458.4(LMBR1):c.*2603A>G	noncoding	Benign
7	156681482	T	C	T156681482C	LMBR1	NM_022458.4(LMBR1):c.*2596A>G	noncoding	Benign
7	156681589	A	G	A156681589G	LMBR1	NM_022458.4(LMBR1):c.*2489T>C	noncoding	Benign
7	156681781	G	A	G156681781A	LMBR1	NM_022458.4(LMBR1):c.*2297C>T	noncoding	Benign
7	156681880	G	C	G156681880C	LMBR1	NM_022458.4(LMBR1):c.*2198C>G	noncoding	Benign
7	156681989	C	T	C156681989T	LMBR1	NM_022458.4(LMBR1):c.*2089G>A	noncoding	Benign
7	156681997	C	T	C156681997T	LMBR1	NM_022458.4(LMBR1):c.*2081G>A	noncoding	Benign
7	156682012	C	G	C156682012G	LMBR1	NM_022458.4(LMBR1):c.*2066G>C	noncoding	Benign
7	156682013	T	C	T156682013C	LMBR1	NM_022458.4(LMBR1):c.*2065A>G	noncoding	Benign
7	156682107	T	A	T156682107A	LMBR1	NM_022458.4(LMBR1):c.*1971A>T	noncoding	Benign
7	156682156	T	C	T156682156C	LMBR1	NM_022458.4(LMBR1):c.*1922A>G	noncoding	Benign
7	156682173	G	C	G156682173C	LMBR1	NM_022458.4(LMBR1):c.*1905C>G	noncoding	Benign
7	156682281	C	G	C156682281G	LMBR1	NM_022458.4(LMBR1):c.*1797G>C	noncoding	Benign
7	156682608	C	T	C156682608T	LMBR1	NM_022458.4(LMBR1):c.*1470G>A	noncoding	Benign
7	156682609	G	A	G156682609A	LMBR1	NM_022458.4(LMBR1):c.*1469C>T	noncoding	Benign
7	156682634	A	C	A156682634C	LMBR1	NM_022458.4(LMBR1):c.*1444T>G	noncoding	Benign
7	156682719	C	T	C156682719T	LMBR1	NM_022458.4(LMBR1):c.*1359G>A	noncoding	Benign
7	156682721	T	C	T156682721C	LMBR1	NM_022458.4(LMBR1):c.*1357A>G	noncoding	Benign
7	156682753	G	A	G156682753A	LMBR1	NM_022458.4(LMBR1):c.*1325C>T	noncoding	Benign
7	156683017	T	C	T156683017C	LMBR1	NM_022458.4(LMBR1):c.*1061A>G	noncoding	Benign
7	156683356	C	G	C156683356G	LMBR1	NM_022458.4(LMBR1):c.*722G>C	noncoding	Benign
7	156683393	C	T	C156683393T	LMBR1	NM_022458.4(LMBR1):c.*685G>A	noncoding	Benign
7	156683695	A	G	A156683695G	LMBR1	NM_022458.4(LMBR1):c.*383T>C	noncoding	Benign
7	156683775	A	G	A156683775G	LMBR1	NM_022458.4(LMBR1):c.*303T>C	noncoding	Benign
7	156683978	A	C	A156683978C	LMBR1	NM_022458.4(LMBR1):c.*100T>G	noncoding	Benign
7	156683987	G	A	G156683987A	LMBR1	NM_022458.4(LMBR1):c.*91C>T	noncoding	Benign
7	156683989	T	A	T156683989A	LMBR1	NM_022458.4(LMBR1):c.*89A>T	noncoding	Benign
7	156684042	G	A	G156684042A	LMBR1	NM_022458.4(LMBR1):c.*36C>T	noncoding	Benign
7	156684063	C	T	C156684063T	LMBR1	NM_022458.4(LMBR1):c.*15G>A	noncoding	Benign
7	156684067	G	A	G156684067A	LMBR1	NM_022458.4(LMBR1):c.*11C>T	noncoding	Benign
7	156684152	G	C	G156684152C	LMBR1	NM_022458.4(LMBR1):c.1399C>G:p.Leu467Val	coding	Benign
7	156724181	G	A	G156724181A	LMBR1	NM_022458.4(LMBR1):c.1159-3C>T	noncoding	Benign
7	156725498	G	A	G156725498A	LMBR1	NM_022458.4(LMBR1):c.1095C>T:p.Gly365=	coding	Benign
7	156725501	G	A	G156725501A	LMBR1	NM_022458.4(LMBR1):c.1092C>T:p.Val364=	coding	Benign
7	156725805	C	T	C156725805T	LMBR1	NM_022458.4(LMBR1):c.1026G>A:p.Thr342=	coding	Benign
7	156734245	G	A	G156734245A	LMBR1	NM_022458.4(LMBR1):c.770C>T:p.Ser257Leu	coding	Benign
7	156762136	T	C	T156762136C	LMBR1	NM_022458.4(LMBR1):c.682A>G:p.Thr228Ala	coding	Benign
7	156762153	T	G	T156762153G	LMBR1	NM_022458.4(LMBR1):c.665A>C:p.Gln222Pro	coding	Benign
7	156763691	G	C	G156763691C	LMBR1	NM_022458.4(LMBR1):c.528C>G:p.Ala176=	coding	Benign
7	156763745	C	T	C156763745T	LMBR1	NM_022458.4(LMBR1):c.474G>A:p.Ala158=	coding	Benign
7	156763784	G	A	G156763784A	LMBR1	NM_022458.4(LMBR1):c.435C>T:p.Ala145=	coding	Benign
7	156763787	T	C	T156763787C	LMBR1	NM_022458.4(LMBR1):c.432A>G:p.Arg144=	coding	Benign
7	156791078	A	G	A156791078G	SHH	NM_022458.4(LMBR1):c.423+5311T>C	noncoding	Benign
7	156791137	T	C	T156791137C	LMBR1	NM_022458.4(LMBR1):c.423+5252A>G	noncoding	Pathogenic
7	156791255	G	C	G156791255C	LMBR1	NM_022458.4(LMBR1):c.423+5134C>G	noncoding	Pathogenic
7	156791369	G	C	G156791369C	SHH;LMBR1;ZRS	NM_022458.4(LMBR1):c.423+5020C>G	noncoding	Benign/Likely_benign
7	156791472	C	T	C156791472T	LMBR1	NM_022458.4(LMBR1):c.423+4917G>A	noncoding	Pathogenic
7	156791474	G	A	G156791474A	LMBR1	NM_022458.4(LMBR1):c.423+4915C>T	noncoding	Pathogenic
7	156791480	G	A	G156791480A	LMBR1	NM_022458.4(LMBR1):c.423+4909C>T	noncoding	Pathogenic
7	156791542	A	C	A156791542C	LMBR1	NM_022458.4(LMBR1):c.423+4847T>G	noncoding	Pathogenic
7	156791547	A	G	A156791547G	LMBR1	NM_022458.4(LMBR1):c.423+4842T>C	noncoding	Pathogenic
7	156791571	T	A	T156791571A	LMBR1	NM_022458.4(LMBR1):c.423+4818A>T	noncoding	Pathogenic
7	156791579	C	T	C156791579T	LMBR1	NM_022458.4(LMBR1):c.423+4810G>A	noncoding	Pathogenic
7	156791581	A	G	A156791581G	LMBR1	NM_022458.4(LMBR1):c.423+4808T>C	noncoding	Pathogenic
7	156791771	G	C	G156791771C	LMBR1	NM_022458.4(LMBR1):c.423+4618C>G	noncoding	Pathogenic
7	156791873	G	C	G156791873C	SHH	NM_022458.4(LMBR1):c.423+4516C>G	noncoding	Benign
7	156791884	T	C	T156791884C	SHH	NM_022458.4(LMBR1):c.423+4505A>G	noncoding	Benign
7	156791921	T	G	T156791921G	SHH	NM_022458.4(LMBR1):c.423+4468A>C	noncoding	Benign
7	156791931	A	G	A156791931G	SHH	NM_022458.4(LMBR1):c.423+4458T>C	noncoding	Benign
7	156796455	A	G	A156796455G	LMBR1	NM_022458.4(LMBR1):c.357T>C:p.Cys119=	coding	Benign
7	156833767	G	A	G156833767A	LMBR1	NM_022458.4(LMBR1):c.165C>T:p.Ile55=	coding	Benign
7	156892933	A	T	A156892933T	LMBR1	NM_022458.4(LMBR1):c.61T>A:p.Ser21Thr	coding	Benign
7	156893084	G	C	G156893084C	LMBR1	NM_022458.4(LMBR1):c.-91C>G	noncoding	Benign
7	157005875	T	C	T157005875C	MNX1	NM_005515.4(MNX1):c.853-2A>G	noncoding	Pathogenic
7	157006478	C	T	C157006478T	MNX1	NM_005515.4(MNX1):c.852+1G>A	noncoding	Pathogenic
7	157006487	C	A	C157006487A	MNX1	NM_005515.4(MNX1):c.844G>T:p.Glu282Ter	coding	Pathogenic
7	157006556	G	A	G157006556A	MNX1	NM_005515.4(MNX1):c.775C>T:p.Gln259Ter	coding	Pathogenic
7	157006595	T	A	T157006595A	MNX1	NM_005515.4(MNX1):c.736A>T:p.Thr246Ser	coding	Pathogenic
7	157009859	G	T	G157009859T	MNX1	NM_005515.4(MNX1):c.492C>A:p.Tyr164Ter	coding	Pathogenic
7	157337085	G	A	G157337085A	DNAJB6	NM_058246.4(DNAJB6):c.-86G>A	noncoding	Benign/Likely_benign
7	157337108	C	G	C157337108G	DNAJB6	NM_058246.4(DNAJB6):c.-63C>G	noncoding	Benign
7	157337128	G	T	G157337128T	DNAJB6	NM_058246.4(DNAJB6):c.-43G>T	noncoding	Benign/Likely_benign
7	157358329	C	T	C157358329T	DNAJB6	NM_058246.4(DNAJB6):c.-26-218C>T	noncoding	Benign
7	157358540	C	T	C157358540T	DNAJB6	NM_058246.4(DNAJB6):c.-26-7C>T	noncoding	Benign
7	157358934	T	C	T157358934C	DNAJB6	NM_058246.4(DNAJB6):c.65+297T>C	noncoding	Benign
7	157363176	A	G	A157363176G	DNAJB6	NM_058246.4(DNAJB6):c.81A>G:p.Ala27=	coding	Benign
7	157363349	T	C	T157363349C	DNAJB6	NM_058246.4(DNAJB6):c.175+79T>C	noncoding	Benign
7	157363457	C	T	C157363457T	DNAJB6	NM_058246.4(DNAJB6):c.175+187C>T	noncoding	Benign
7	157363517	G	A	G157363517A	DNAJB6	NM_058246.4(DNAJB6):c.175+247G>A	noncoding	Benign
7	157363548	G	C	G157363548C	DNAJB6	NM_058246.4(DNAJB6):c.175+278G>C	noncoding	Benign
7	157366482	A	G	A157366482G	DNAJB6	NM_058246.4(DNAJB6):c.176-20A>G	noncoding	Benign
7	157366729	G	A	G157366729A	DNAJB6	NM_058246.4(DNAJB6):c.235+168G>A	noncoding	Benign
7	157367402	T	A	T157367402A	DNAJB6	NM_058246.4(DNAJB6):c.265T>A:p.Phe89Ile	coding	Pathogenic
7	157367408	T	A	T157367408A	DNAJB6	NM_058246.4(DNAJB6):c.271T>A:p.Phe91Ile	coding	Pathogenic
7	157367410	C	G	C157367410G	DNAJB6	NM_058246.4(DNAJB6):c.273C>G:p.Phe91Leu	coding	Pathogenic
7	157367414	T	C	T157367414C	DNAJB6	NM_058246.4(DNAJB6):c.277T>C:p.Phe93Leu	coding	Pathogenic
7	157367416	C	A	C157367416A	DNAJB6	NM_058246.4(DNAJB6):c.279C>A:p.Phe93Leu	coding	Pathogenic
7	157367416	C	G	C157367416G	DNAJB6	NM_058246.4(DNAJB6):c.279C>G:p.Phe93Leu	coding	Pathogenic
7	157367416	C	T	C157367416T	DNAJB6	NM_058246.4(DNAJB6):c.279C>T:p.Phe93=	coding	Benign/Likely_benign
7	157367424	C	G	C157367424G	DNAJB6	NM_058246.4(DNAJB6):c.287C>G:p.Pro96Arg	coding	Pathogenic
7	157367435	T	G	T157367435G	DNAJB6	NM_058246.4(DNAJB6):c.298T>G:p.Phe100Val	coding	Pathogenic
7	157367488	G	A	G157367488A	DNAJB6	NM_058246.4(DNAJB6):c.346+5G>A	noncoding	Pathogenic
7	157382316	G	A	G157382316A	DNAJB6	NM_058246.4(DNAJB6):c.417G>A:p.Ser139=	coding	Benign/Likely_benign
7	157382328	G	C	G157382328C	DNAJB6	NM_058246.4(DNAJB6):c.429G>C:p.Ala143=	coding	Benign/Likely_benign
7	157384605	G	T	G157384605T	DNAJB6	NM_058246.4(DNAJB6):c.479-262G>T	noncoding	Benign
7	157384673	C	G	C157384673G	DNAJB6	NM_058246.4(DNAJB6):c.479-194C>G	noncoding	Benign
7	157384895	C	T	C157384895T	DNAJB6	NM_058246.4(DNAJB6):c.507C>T:p.His169=	coding	Benign
7	157409588	T	A	T157409588A	DNAJB6	NM_058246.4(DNAJB6):c.692-207T>A	noncoding	Benign
7	157409963	G	A	G157409963A	DNAJB6	NM_058246.4(DNAJB6):c.860G>A:p.Arg287Gln	coding	Benign/Likely_benign
7	157410240	C	T	C157410240T	DNAJB6	NM_058246.4(DNAJB6):c.898+239C>T	noncoding	Benign
7	157415764	C	T	C157415764T	DNAJB6	NM_058246.4(DNAJB6):c.899-252C>T	noncoding	Benign
7	157415853	C	T	C157415853T	DNAJB6	NM_058246.4(DNAJB6):c.899-163C>T	noncoding	Benign
7	157415876	G	A	G157415876A	DNAJB6	NM_058246.4(DNAJB6):c.899-140G>A	noncoding	Benign
7	157415898	T	C	T157415898C	DNAJB6	NM_058246.4(DNAJB6):c.899-118T>C	noncoding	Benign
7	157415923	C	T	C157415923T	DNAJB6	NM_058246.4(DNAJB6):c.899-93C>T	noncoding	Benign
7	157416010	C	T	C157416010T	DNAJB6	NM_058246.4(DNAJB6):c.899-6C>T	noncoding	Benign/Likely_benign
7	157416065	G	A	G157416065A	DNAJB6	NM_058246.4(DNAJB6):c.948G>A:p.Ser316=	coding	Benign/Likely_benign
7	157416078	T	C	T157416078C	DNAJB6	NM_058246.4(DNAJB6):c.961T>C:p.Ser321Pro	coding	Benign/Likely_benign
7	157416170	C	T	C157416170T	DNAJB6	NM_058246.4(DNAJB6):c.*72C>T	noncoding	Benign/Likely_benign
7	157416186	G	A	G157416186A	DNAJB6	NM_058246.4(DNAJB6):c.*88G>A	noncoding	Benign/Likely_benign
7	157416480	G	A	G157416480A	DNAJB6	NM_058246.4(DNAJB6):c.*382G>A	noncoding	Benign/Likely_benign
7	157416612	G	A	G157416612A	DNAJB6	NM_058246.4(DNAJB6):c.*514G>A	noncoding	Benign/Likely_benign
7	157416702	C	G	C157416702G	DNAJB6	NM_058246.4(DNAJB6):c.*604C>G	noncoding	Benign/Likely_benign
7	157416737	A	G	A157416737G	DNAJB6	NM_058246.4(DNAJB6):c.*639A>G	noncoding	Benign/Likely_benign
7	157416797	T	C	T157416797C	DNAJB6	NM_058246.4(DNAJB6):c.*699T>C	noncoding	Benign
7	157416824	A	G	A157416824G	DNAJB6	NM_058246.4(DNAJB6):c.*726A>G	noncoding	Benign
7	157416857	C	T	C157416857T	DNAJB6	NM_058246.4(DNAJB6):c.*759C>T	noncoding	Benign
7	157416874	C	T	C157416874T	DNAJB6	NM_058246.4(DNAJB6):c.*776C>T	noncoding	Benign/Likely_benign
7	157416885	G	T	G157416885T	DNAJB6	NM_058246.4(DNAJB6):c.*787G>T	noncoding	Benign/Likely_benign
7	157417000	C	T	C157417000T	DNAJB6	NM_058246.4(DNAJB6):c.*902C>T	noncoding	Benign/Likely_benign
7	157417021	G	A	G157417021A	DNAJB6	NM_058246.4(DNAJB6):c.*923G>A	noncoding	Benign
7	157417064	C	T	C157417064T	DNAJB6	NM_058246.4(DNAJB6):c.*966C>T	noncoding	Benign/Likely_benign
7	157540717	C	A	C157540717A	PTPRN2	NM_002847.5(PTPRN2):c.3045G>T:p.Gln1015His	coding	Benign
7	157548964	G	A	G157548964A	PTPRN2	NM_002847.5(PTPRN2):c.2958C>T:p.Pro986=	coding	Benign
7	157576606	G	A	G157576606A	PTPRN2	NM_002847.5(PTPRN2):c.2783+7C>T	noncoding	Benign
7	157595301	C	T	C157595301T	PTPRN2	NM_002847.5(PTPRN2):c.2433G>A:p.Pro811=	coding	Benign
7	157621435	C	T	C157621435T	PTPRN2	NM_002847.5(PTPRN2):c.2271G>A:p.Ala757=	coding	Benign
7	157621456	T	C	T157621456C	PTPRN2	NM_002847.5(PTPRN2):c.2250A>G:p.Glu750=	coding	Benign
7	157656369	G	T	G157656369T	PTPRN2	NM_002847.5(PTPRN2):c.2184C>A:p.Gly728=	coding	Benign
7	157656499	G	A	G157656499A	PTPRN2	NM_002847.5(PTPRN2):c.2054C>T:p.Pro685Leu	coding	Benign
7	157898679	G	C	G157898679C	PTPRN2	NM_002847.5(PTPRN2):c.1782C>G:p.Val594=	coding	Benign
7	158110834	G	A	G158110834A	PTPRN2	NM_002847.5(PTPRN2):c.1638C>T:p.Asp546=	coding	Benign
7	158133838	G	C	G158133838C	PTPRN2	NM_002847.5(PTPRN2):c.1395C>G:p.Pro465=	coding	Benign
7	158133844	C	T	C158133844T	PTPRN2	NM_002847.5(PTPRN2):c.1389G>A:p.Ser463=	coding	Benign
7	158136665	A	T	A158136665T	PTPRN2	NM_002847.5(PTPRN2):c.1163T>A:p.Leu388His	coding	Benign
7	158136678	C	T	C158136678T	PTPRN2	NM_002847.5(PTPRN2):c.1150G>A:p.Asp384Asn	coding	Benign
7	158136679	G	A	G158136679A	PTPRN2	NM_002847.5(PTPRN2):c.1149C>T:p.Asp383=	coding	Benign
7	158138311	C	T	C158138311T	PTPRN2	NM_002847.5(PTPRN2):c.1115G>A:p.Arg372His	coding	Benign
7	158138361	C	A	C158138361A	PTPRN2	NM_002847.5(PTPRN2):c.1065G>T:p.Ala355=	coding	Benign
7	158138362	G	A	G158138362A	PTPRN2	NM_002847.5(PTPRN2):c.1064C>T:p.Ala355Val	coding	Benign
7	158138459	C	G	C158138459G	PTPRN2	NM_002847.5(PTPRN2):c.967G>C:p.Gly323Arg	coding	Benign
7	158167102	T	C	T158167102C	PTPRN2	NM_002847.5(PTPRN2):c.739A>G:p.Ser247Gly	coding	Benign
7	158167178	G	T	G158167178T	PTPRN2	NM_002847.5(PTPRN2):c.663C>A:p.Leu221=	coding	Benign
7	158167196	G	A	G158167196A	PTPRN2	NM_002847.5(PTPRN2):c.645C>T:p.Asp215=	coding	Benign
7	158167273	C	T	C158167273T	PTPRN2	NM_002847.5(PTPRN2):c.568G>A:p.Glu190Lys	coding	Benign
7	158192396	G	A	G158192396A	PTPRN2	NM_002847.5(PTPRN2):c.480C>T:p.Ala160=	coding	Benign
7	158205257	A	G	A158205257G	PTPRN2	NM_002847.5(PTPRN2):c.294T>C:p.Asp98=	coding	Benign
7	158316845	A	C	A158316845C	PTPRN2	NM_002847.5(PTPRN2):c.251T>G:p.Val84Gly	coding	Benign
7	158316861	G	A	G158316861A	PTPRN2	NM_002847.5(PTPRN2):c.235C>T:p.Leu79=	coding	Benign
7	158316880	G	A	G158316880A	PTPRN2	NM_002847.5(PTPRN2):c.216C>T:p.Tyr72=	coding	Benign
7	158652371	G	C	G158652371C	NCAPG2	NM_017760.7(NCAPG2):c.2856C>G:p.Asp952Glu	coding	Benign
7	158655216	T	G	T158655216G	NCAPG2	NM_017760.7(NCAPG2):c.2548A>C:p.Thr850Pro	coding	Pathogenic
7	158656267	G	A	G158656267A	NCAPG2	NM_017760.7(NCAPG2):c.2381C>T:p.Thr794Met	coding	Benign
7	158656612	C	T	C158656612T	NCAPG2	NM_017760.7(NCAPG2):c.2154G>A:p.Gln718=	coding	Benign
7	158656688	G	A	G158656688A	NCAPG2	NM_017760.7(NCAPG2):c.2078C>T:p.Thr693Met	coding	Pathogenic
7	158662343	T	C	T158662343C	NCAPG2	NM_017760.7(NCAPG2):c.1840A>G:p.Asn614Asp	coding	Benign
7	158662358	T	C	T158662358C	NCAPG2	NM_017760.7(NCAPG2):c.1825A>G:p.Lys609Glu	coding	Pathogenic
7	158664201	C	G	C158664201G	NCAPG2	NM_017760.7(NCAPG2):c.1798G>C:p.Glu600Gln	coding	Benign
7	158664658	A	G	A158664658G	NCAPG2	NM_017760.7(NCAPG2):c.1572T>C:p.Asn524=	coding	Benign
7	158675638	A	G	A158675638G	NCAPG2	NM_017760.7(NCAPG2):c.1165T>C:p.Tyr389His	coding	Benign
7	158680766	C	T	C158680766T	NCAPG2	NM_017760.7(NCAPG2):c.975G>A:p.Glu325=	coding	Benign
7	158683351	G	A	G158683351A	NCAPG2	NM_017760.7(NCAPG2):c.873C>T:p.Phe291=	coding	Benign
7	158690564	A	G	A158690564G	NCAPG2	NM_017760.7(NCAPG2):c.537+4T>C	noncoding	Benign
7	158693446	T	C	T158693446C	NCAPG2	NM_017760.7(NCAPG2):c.130A>G:p.Arg44Gly	coding	Benign
7	158871562	G	A	G158871562A	DYNC2I1	NM_018051.5(DYNC2I1):c.490G>A:p.Val164Ile	coding	Benign
7	158876637	T	C	T158876637C	DYNC2I1	NM_018051.5(DYNC2I1):c.519T>C:p.Asp173=	coding	Benign
7	158879714	C	G	C158879714G	DYNC2I1	NM_018051.5(DYNC2I1):c.604C>G:p.Leu202Val	coding	Benign
7	158879785	C	G	C158879785G	DYNC2I1	NM_018051.5(DYNC2I1):c.675C>G:p.Asn225Lys	coding	Benign
7	158879928	A	G	A158879928G	DYNC2I1	NM_018051.5(DYNC2I1):c.818A>G:p.Gln273Arg	coding	Benign
7	158887026	C	T	C158887026T	DYNC2I1	NM_018051.5(DYNC2I1):c.941C>T:p.Ala314Val	coding	Benign
7	158902559	C	T	C158902559T	DYNC2I1	NM_018051.5(DYNC2I1):c.1321C>T:p.Arg441Ter	coding	Pathogenic
7	158906001	C	A	C158906001A	DYNC2I1	NM_018051.5(DYNC2I1):c.1370C>A:p.Ser457Tyr	coding	Benign
7	158911554	C	G	C158911554G	DYNC2I1	NM_018051.5(DYNC2I1):c.1465C>G:p.Arg489Gly	coding	Benign
7	158913079	G	A	G158913079A	DYNC2I1	NM_018051.5(DYNC2I1):c.1685G>A:p.Ser562Asn	coding	Benign
7	158914230	T	A	T158914230A	DYNC2I1	NM_018051.5(DYNC2I1):c.1703-3T>A	noncoding	Pathogenic
7	158914326	A	G	A158914326G	DYNC2I1	NM_018051.5(DYNC2I1):c.1791+5A>G	noncoding	Benign
7	158918748	C	T	C158918748T	DYNC2I1	NM_018051.5(DYNC2I1):c.1800C>T:p.Ala600=	coding	Benign
7	158918839	C	T	C158918839T	DYNC2I1	NM_018051.5(DYNC2I1):c.1891C>T:p.Gln631Ter	coding	Pathogenic
7	158922528	A	G	A158922528G	DYNC2I1	NM_018051.5(DYNC2I1):c.2073A>G:p.Lys691=	coding	Benign
7	158923722	C	T	C158923722T	DYNC2I1	NM_018051.5(DYNC2I1):c.2246C>T:p.Thr749Met	coding	Pathogenic
7	158923743	A	G	A158923743G	DYNC2I1	NM_018051.5(DYNC2I1):c.2257+10A>G	noncoding	Benign
7	158926213	C	T	C158926213T	DYNC2I1	NM_018051.5(DYNC2I1):c.2284C>T:p.Arg762Ter	coding	Pathogenic
7	158926234	G	A	G158926234A	DYNC2I1	NM_018051.5(DYNC2I1):c.2305G>A:p.Glu769Lys	coding	Pathogenic
7	158926283	C	T	C158926283T	DYNC2I1	NM_018051.5(DYNC2I1):c.2354C>T:p.Pro785Leu	coding	Benign
7	158926304	C	T	C158926304T	DYNC2I1	NM_018051.5(DYNC2I1):c.2371+4C>T	noncoding	Benign
7	158926393	C	T	C158926393T	DYNC2I1	NM_018051.5(DYNC2I1):c.2372-9C>T	noncoding	Benign
7	158926415	G	A	G158926415A	DYNC2I1	NM_018051.5(DYNC2I1):c.2385G>A:p.Leu795=	coding	Benign
7	158926425	A	G	A158926425G	DYNC2I1	NM_018051.5(DYNC2I1):c.2395A>G:p.Ile799Val	coding	Benign
7	158926427	C	T	C158926427T	DYNC2I1	NM_018051.5(DYNC2I1):c.2397C>T:p.Ile799=	coding	Benign
7	158926448	G	T	G158926448T	DYNC2I1	NM_018051.5(DYNC2I1):c.2418G>T:p.Gly806=	coding	Benign
7	158930507	G	C	G158930507C	DYNC2I1	NM_018051.5(DYNC2I1):c.2538G>C:p.Leu846Phe	coding	Benign
7	158941939	C	T	C158941939T	DYNC2I1	NM_018051.5(DYNC2I1):c.2793C>T:p.Asp931=	coding	Benign
7	158941972	G	C	G158941972C	DYNC2I1	NM_018051.5(DYNC2I1):c.2826G>C:p.Ala942=	coding	Benign
7	158942122	C	T	C158942122T	DYNC2I1	NM_018051.5(DYNC2I1):c.2976C>T:p.Val992=	coding	Benign
7	158945659	T	C	T158945659C	DYNC2I1	NM_018051.5(DYNC2I1):c.3081T>C:p.Ser1027=	coding	Benign
7	158945696	G	A	G158945696A	DYNC2I1	NM_018051.5(DYNC2I1):c.3118G>A:p.Ala1040Thr	coding	Benign
7	159030704	A	G	A159030704G	VIPR2	NM_003382.5(VIPR2):c.1229T>C:p.Phe410Ser	coding	Benign
7	159032034	C	T	C159032034T	VIPR2	NM_003382.5(VIPR2):c.1005G>A:p.Pro335=	coding	Benign
7	159043113	G	A	G159043113A	VIPR2	NM_003382.5(VIPR2):c.519C>T:p.Ala173=	coding	Benign
7	159103832	C	T	C159103832T	VIPR2	NM_003382.5(VIPR2):c.282G>A:p.Thr94=	coding	Benign
8	1770928	T	C	T1770928C	CLN8	NM_018941.3(CLN8):c.-123-4T>C	noncoding	Benign
8	1771055	A	G	A1771055G	CLN8	NM_018941.3(CLN8):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
8	1771065	C	T	C1771065T	CLN8	NM_018941.3(CLN8):c.11C>T:p.Ala4Val	coding	Benign/Likely_benign
8	1771124	C	G	C1771124G	CLN8	NM_018941.3(CLN8):c.70C>G:p.Arg24Gly	coding	Pathogenic
8	1771142	G	C	G1771142C	CLN8	NM_018941.3(CLN8):c.88G>C:p.Ala30Pro	coding	Pathogenic
8	1771300	G	A	G1771300A	CLN8	NM_018941.3(CLN8):c.246G>A:p.Leu82=	coding	Benign/Likely_benign
8	1771328	C	T	C1771328T	CLN8	NM_018941.3(CLN8):c.274C>T:p.His92Tyr	coding	Benign/Likely_benign
8	1771344	G	A	G1771344A	CLN8	NM_018941.3(CLN8):c.290G>A:p.Arg97His	coding	Benign/Likely_benign
8	1771349	C	T	C1771349T	CLN8	NM_018941.3(CLN8):c.295C>T:p.Gln99Ter	coding	Pathogenic
8	1771365	G	A	G1771365A	CLN8	NM_018941.4(CLN8):c.311G>A:p.Trp104Ter	coding	Pathogenic
8	1771372	C	T	C1771372T	CLN8	NM_018941.3(CLN8):c.318C>T:p.His106=	coding	Benign/Likely_benign
8	1771553	G	T	G1771553T	CLN8	NM_018941.3(CLN8):c.499G>T:p.Glu167Ter	coding	Pathogenic
8	1780126	T	C	T1780126C	CLN8	NM_018941.3(CLN8):c.544-124T>C	noncoding	Benign
8	1780252	G	A	G1780252A	CLN8	NM_018941.3(CLN8):c.546G>A:p.Ala182=	coding	Benign/Likely_benign
8	1780268	C	T	C1780268T	CLN8	NM_018941.3(CLN8):c.562C>T:p.Leu188=	coding	Benign
8	1780316	C	T	C1780316T	CLN8	NM_018941.3(CLN8):c.610C>T:p.Arg204Cys	coding	Pathogenic/Likely_pathogenic
8	1780391	C	G	C1780391G	CLN8	NM_018941.3(CLN8):c.685C>G:p.Pro229Ala	coding	Benign
8	1780483	T	C	T1780483C	CLN8	NM_018941.3(CLN8):c.777T>C:p.Asn259=	coding	Benign
8	1780495	G	C	G1780495C	CLN8	NM_018941.3(CLN8):c.789G>C:p.Trp263Cys	coding	Pathogenic
8	1780498	C	G	C1780498G	CLN8	NM_018941.4(CLN8):c.792C>G:p.Asn264Lys	coding	Pathogenic/Likely_pathogenic
8	1780550	C	A	C1780550A	CLN8	NM_018941.3(CLN8):c.844C>A:p.Arg282=	coding	Benign
8	1857950	T	C	T1857950C	ARHGEF10	NM_014629.4(ARHGEF10):c.38-10T>C	noncoding	Benign/Likely_benign
8	1858063	A	C	A1858063C	ARHGEF10	NM_014629.4(ARHGEF10):c.141A>C:p.Pro47=	coding	Benign
8	1860090	A	G	A1860090G	ARHGEF10	NM_014629.4(ARHGEF10):c.387A>G:p.Val129=	coding	Benign
8	1860177	C	T	C1860177T	ARHGEF10	NM_014629.4(ARHGEF10):c.474C>T:p.Asp158=	coding	Benign
8	1864369	G	C	G1864369C	ARHGEF10	NM_014629.4(ARHGEF10):c.482-4G>C	noncoding	Benign
8	1869201	G	A	G1869201A	ARHGEF10	NM_014629.4(ARHGEF10):c.630G>A:p.Glu210=	coding	Benign
8	1882647	G	A	G1882647A	ARHGEF10	NM_014629.4(ARHGEF10):c.973G>A:p.Val325Met	coding	Benign
8	1882669	C	T	C1882669T	ARHGEF10	NM_014629.4(ARHGEF10):c.995C>T:p.Thr332Ile	coding	Pathogenic
8	1882762	A	G	A1882762G	ARHGEF10	NM_014629.4(ARHGEF10):c.1075+13A>G	noncoding	Benign
8	1885635	G	C	G1885635C	ARHGEF10	NM_014629.4(ARHGEF10):c.1110G>C:p.Leu370Phe	coding	Benign
8	1885638	C	T	C1885638T	ARHGEF10	NM_014629.4(ARHGEF10):c.1113C>T:p.Phe371=	coding	Benign
8	1893592	T	C	T1893592C	ARHGEF10	NM_014629.4(ARHGEF10):c.1206T>C:p.Gly402=	coding	Benign
8	1893650	C	T	C1893650T	ARHGEF10	NM_014629.4(ARHGEF10):c.1260+4C>T	noncoding	Benign
8	1894563	C	T	C1894563T	ARHGEF10	NM_014629.4(ARHGEF10):c.1431C>T:p.Phe477=	coding	Benign
8	1894582	C	T	C1894582T	ARHGEF10	NM_014629.4(ARHGEF10):c.1440+10C>T	noncoding	Benign
8	1905567	C	G	C1905567G	ARHGEF10	NM_014629.4(ARHGEF10):c.1822-4C>G	noncoding	Benign
8	1909318	T	C	T1909318C	ARHGEF10	NM_014629.4(ARHGEF10):c.1991T>C:p.Met664Thr	coding	Benign
8	1909424	C	T	C1909424T	ARHGEF10	NM_014629.4(ARHGEF10):c.2097C>T:p.Ala699=	coding	Benign
8	1909425	G	A	G1909425A	ARHGEF10	NM_014629.4(ARHGEF10):c.2098G>A:p.Val700Ile	coding	Benign
8	1909483	T	G	T1909483G	ARHGEF10	NM_014629.4(ARHGEF10):c.2143+13T>G	noncoding	Benign
8	1925295	A	G	A1925295G	ARHGEF10	NM_014629.4(ARHGEF10):c.2501A>G:p.His834Arg	coding	Benign
8	1928484	A	C	A1928484C	ARHGEF10	NM_014629.4(ARHGEF10):c.2755A>C:p.Thr919Pro	coding	Benign
8	1952689	A	G	A1952689G	ARHGEF10	NM_014629.4(ARHGEF10):c.3398-16A>G	noncoding	Benign
8	1952698	C	T	C1952698T	ARHGEF10	NM_014629.4(ARHGEF10):c.3398-7C>T	noncoding	Benign
8	1952826	C	T	C1952826T	ARHGEF10	NM_014629.4(ARHGEF10):c.3519C>T:p.Thr1173=	coding	Benign
8	1956876	C	T	C1956876T	ARHGEF10	NM_014629.4(ARHGEF10):c.3648C>T:p.Asp1216=	coding	Benign
8	1956933	T	C	T1956933C	ARHGEF10	NM_014629.4(ARHGEF10):c.3705T>C:p.Gly1235=	coding	Benign
8	1957056	A	G	A1957056G	ARHGEF10	NM_014629.4(ARHGEF10):c.3828A>G:p.Ser1276=	coding	Benign
8	1957143	G	A	G1957143A	ARHGEF10	NM_014629.4(ARHGEF10):c.3915G>A:p.Ser1305=	coding	Benign
8	1957201	C	T	C1957201T	ARHGEF10	NM_014629.4(ARHGEF10):c.3973C>T:p.Pro1325Ser	coding	Benign
8	2955602	C	T	C2955602T	CSMD1	NM_033225.6(CSMD1):c.9981G>A:p.Ser3327=	coding	Benign
8	2962554	C	T	C2962554T	CSMD1	NM_033225.6(CSMD1):c.9540G>A:p.Gln3180=	coding	Benign
8	2966724	G	C	G2966724C	CSMD1	NM_033225.6(CSMD1):c.8946C>G:p.Gly2982=	coding	Benign
8	2974461	G	C	G2974461C	CSMD1	NM_033225.6(CSMD1):c.8730C>G:p.Pro2910=	coding	Benign
8	2974464	C	A	C2974464A	CSMD1	NM_033225.6(CSMD1):c.8727G>T:p.Leu2909=	coding	Benign
8	2974553	C	T	C2974553T	CSMD1	NM_033225.6(CSMD1):c.8638G>A:p.Val2880Ile	coding	Benign
8	2978603	C	G	C2978603G	CSMD1	NM_033225.6(CSMD1):c.8566+9G>C	noncoding	Benign
8	2978658	G	C	G2978658C	CSMD1	NM_033225.6(CSMD1):c.8520C>G:p.Thr2840=	coding	Benign
8	2978763	G	A	G2978763A	CSMD1	NM_033225.6(CSMD1):c.8415C>T:p.Ala2805=	coding	Benign
8	2998138	A	G	A2998138G	CSMD1	NM_033225.6(CSMD1):c.8250T>C:p.Asn2750=	coding	Benign
8	3000013	G	A	G3000013A	CSMD1	NM_033225.6(CSMD1):c.8148C>T:p.Ser2716=	coding	Benign
8	3000097	G	A	G3000097A	CSMD1	NM_033225.6(CSMD1):c.8064C>T:p.Asn2688=	coding	Benign
8	3029309	C	A	C3029309A	CSMD1	NM_033225.6(CSMD1):c.7855+10G>T	noncoding	Benign
8	3052601	G	A	G3052601A	CSMD1	NM_033225.6(CSMD1):c.7521C>T:p.Thr2507=	coding	Benign
8	3097009	A	C	A3097009C	CSMD1	NM_033225.6(CSMD1):c.6978T>G:p.Thr2326=	coding	Benign
8	3107772	G	C	G3107772C	CSMD1	NM_033225.6(CSMD1):c.6781C>G:p.Pro2261Ala	coding	Benign
8	3108604	G	A	G3108604A	CSMD1	NM_033225.6(CSMD1):c.6753C>T:p.His2251=	coding	Benign
8	3110235	C	T	C3110235T	CSMD1	NM_033225.6(CSMD1):c.6531G>A:p.Thr2177=	coding	Benign
8	3142586	C	G	C3142586G	CSMD1	NM_033225.6(CSMD1):c.6120G>C:p.Met2040Ile	coding	Benign
8	3142625	G	A	G3142625A	CSMD1	NM_033225.6(CSMD1):c.6081C>T:p.Phe2027=	coding	Benign
8	3151498	G	A	G3151498A	CSMD1	NM_033225.6(CSMD1):c.5930C>T:p.Thr1977Met	coding	Benign
8	3162222	G	C	G3162222C	CSMD1	NM_033225.6(CSMD1):c.5781C>G:p.Ile1927Met	coding	Benign
8	3187906	A	G	A3187906G	CSMD1	NM_033225.6(CSMD1):c.5583T>C:p.Gly1861=	coding	Benign
8	3190030	G	A	G3190030A	CSMD1	NM_033225.6(CSMD1):c.5280C>T:p.Gly1760=	coding	Benign
8	3214487	G	A	G3214487A	CSMD1	NM_033225.6(CSMD1):c.4867+10C>T	noncoding	Benign
8	3219289	G	A	G3219289A	CSMD1	NM_033225.6(CSMD1):c.4638C>T:p.Ser1546=	coding	Benign
8	3230165	C	G	C3230165G	CSMD1	NM_033225.6(CSMD1):c.4220G>C:p.Arg1407Thr	coding	Benign
8	3308427	G	C	G3308427C	CSMD1	NM_033225.6(CSMD1):c.3708C>G:p.Thr1236=	coding	Benign
8	3308492	C	A	C3308492A	CSMD1	NM_033225.6(CSMD1):c.3643G>T:p.Val1215Leu	coding	Benign
8	3308512	G	C	G3308512C	CSMD1	NM_033225.6(CSMD1):c.3632-9C>G	noncoding	Benign
8	3343391	A	C	A3343391C	CSMD1	NM_033225.6(CSMD1):c.3534T>G:p.Leu1178=	coding	Benign
8	3359257	G	A	G3359257A	CSMD1	NM_033225.6(CSMD1):c.3199C>T:p.Leu1067=	coding	Benign
8	3367060	C	T	C3367060T	CSMD1	NM_033225.6(CSMD1):c.3087G>A:p.Ser1029=	coding	Benign
8	3367114	G	A	G3367114A	CSMD1	NM_033225.6(CSMD1):c.3033C>T:p.Gly1011=	coding	Benign
8	3369261	A	G	A3369261G	CSMD1	NM_033225.6(CSMD1):c.2892T>C:p.His964=	coding	Benign
8	3369342	C	G	C3369342G	CSMD1	NM_033225.6(CSMD1):c.2811G>C:p.Lys937Asn	coding	Benign
8	3396207	G	A	G3396207A	CSMD1	NM_033225.6(CSMD1):c.2580C>T:p.Leu860=	coding	Benign
8	3396267	G	A	G3396267A	CSMD1	NM_033225.6(CSMD1):c.2520C>T:p.Thr840=	coding	Benign
8	3406049	G	A	G3406049A	CSMD1	NM_033225.6(CSMD1):c.2244C>T:p.Ser748=	coding	Benign
8	3406090	A	C	A3406090C	CSMD1	NM_033225.6(CSMD1):c.2203T>G:p.Ser735Ala	coding	Benign
8	3407890	C	T	C3407890T	CSMD1	NM_033225.6(CSMD1):c.2071+9G>A	noncoding	Benign
8	3408161	T	C	T3408161C	CSMD1	NM_033225.6(CSMD1):c.1809A>G:p.Glu603=	coding	Benign
8	3409430	G	A	G3409430A	CSMD1	NM_033225.6(CSMD1):c.1737C>T:p.Ser579=	coding	Benign
8	3409505	C	T	C3409505T	CSMD1	NM_033225.6(CSMD1):c.1662G>A:p.Pro554=	coding	Benign
8	3409544	G	A	G3409544A	CSMD1	NM_033225.6(CSMD1):c.1623C>T:p.Ser541=	coding	Benign
8	3575064	T	G	T3575064G	CSMD1	NM_033225.6(CSMD1):c.1225A>C:p.Arg409=	coding	Benign
8	3575073	A	G	A3575073G	CSMD1	NM_033225.6(CSMD1):c.1223-7T>C	noncoding	Benign
8	3586129	G	A	G3586129A	CSMD1	NM_033225.6(CSMD1):c.1222+7C>T	noncoding	Benign
8	3586221	G	A	G3586221A	CSMD1	NM_033225.6(CSMD1):c.1137C>T:p.Tyr379=	coding	Benign
8	3586264	A	G	A3586264G	CSMD1	NM_033225.6(CSMD1):c.1098-4T>C	noncoding	Benign
8	3708498	G	A	G3708498A	CSMD1	NM_033225.6(CSMD1):c.932-7C>T	noncoding	Benign
8	4031952	C	T	C4031952T	CSMD1	NM_033225.6(CSMD1):c.563G>A:p.Ser188Asn	coding	Benign
8	4420011	A	C	A4420011C	CSMD1	NM_033225.6(CSMD1):c.357T>G:p.Thr119=	coding	Benign
8	4637521	G	A	G4637521A	CSMD1	NM_033225.6(CSMD1):c.123C>T:p.Gly41=	coding	Benign
8	6406609	G	C	G6406609C	MCPH1	NM_001172574.1(MCPH1):c.-59G>C	noncoding	Benign
8	6409264	A	G	A6409264G	MCPH1	NM_024596.5(MCPH1):c.23-15A>G	noncoding	Benign/Likely_benign
8	6409330	C	G	C6409330G	MCPH1	NM_024596.5(MCPH1):c.74C>G:p.Ser25Ter	coding	Pathogenic
8	6409336	C	G	C6409336G	MCPH1	NM_024596.5(MCPH1):c.80C>G:p.Thr27Arg	coding	Pathogenic
8	6414635	G	A	G6414635A	MCPH1	NM_024596.5(MCPH1):c.115-130G>A	noncoding	Benign
8	6414664	G	T	G6414664T	MCPH1	NM_024596.5(MCPH1):c.115-101G>T	noncoding	Benign
8	6414797	C	G	C6414797G	MCPH1	NM_024596.5(MCPH1):c.147C>G:p.His49Gln	coding	Pathogenic
8	6414865	C	T	C6414865T	MCPH1	NM_024596.5(MCPH1):c.215C>T:p.Ser72Leu	coding	Pathogenic
8	6414878	G	T	G6414878T	MCPH1	NM_024596.5(MCPH1):c.228G>T:p.Val76=	coding	Benign
8	6414956	A	G	A6414956G	MCPH1	NM_024596.5(MCPH1):c.233+73A>G	noncoding	Benign
8	6414960	C	G	C6414960G	MCPH1	NM_024596.5(MCPH1):c.233+77C>G	noncoding	Benign
8	6415011	T	A	T6415011A	MCPH1	NM_024596.5(MCPH1):c.233+128T>A	noncoding	Benign
8	6415022	A	C	A6415022C	MCPH1	NM_024596.5(MCPH1):c.233+139A>C	noncoding	Benign
8	6431358	A	T	A6431358T	MCPH1	NM_024596.5(MCPH1):c.234-141A>T	noncoding	Benign
8	6431567	C	G	C6431567G	MCPH1	NM_024596.5(MCPH1):c.302C>G:p.Ser101Ter	coding	Pathogenic
8	6431578	A	T	A6431578T	MCPH1	NM_024596.5(MCPH1):c.313A>T:p.Lys105Ter	coding	Pathogenic
8	6442011	A	G	A6442011G	MCPH1	NM_024596.5(MCPH1):c.581-56A>G	noncoding	Benign
8	6442120	G	A	G6442120A	MCPH1	NM_024596.5(MCPH1):c.634G>A:p.Ala212Thr	coding	Benign
8	6442133	T	C	T6442133C	MCPH1	NM_024596.5(MCPH1):c.647T>C:p.Ile216Thr	coding	Benign
8	6444512	A	G	A6444512G	MCPH1	NM_024596.5(MCPH1):c.790A>G:p.Ile264Val	coding	Benign
8	6444585	C	A	C6444585A	MCPH1	NM_024596.5(MCPH1):c.863C>A:p.Pro288His	coding	Benign
8	6444633	G	T	G6444633T	MCPH1	NM_024596.5(MCPH1):c.911G>T:p.Arg304Ile	coding	Benign
8	6444662	G	C	G6444662C	MCPH1	NM_024596.5(MCPH1):c.940G>C:p.Asp314His	coding	Benign
8	6444711	A	G	A6444711G	MCPH1	NM_024596.5(MCPH1):c.989A>G:p.Tyr330Cys	coding	Benign/Likely_benign
8	6444897	A	G	A6444897G	MCPH1	NM_024596.5(MCPH1):c.1175A>G:p.Asp392Gly	coding	Benign
8	6444958	T	C	T6444958C	MCPH1	NM_024596.5(MCPH1):c.1236T>C:p.Tyr412=	coding	Benign/Likely_benign
8	6445080	C	T	C6445080T	MCPH1	NM_024596.5(MCPH1):c.1358C>T:p.Thr453Ile	coding	Benign
8	6445150	C	T	C6445150T	MCPH1	NM_024596.5(MCPH1):c.1428C>T:p.Phe476=	coding	Benign
8	6445347	T	G	T6445347G	MCPH1	NM_024596.5(MCPH1):c.1625T>G:p.Leu542Ter	coding	Pathogenic/Likely_pathogenic
8	6445441	C	T	C6445441T	MCPH1	NM_024596.5(MCPH1):c.1719C>T:p.Ser573=	coding	Benign
8	6445450	C	T	C6445450T	MCPH1	NM_024596.5(MCPH1):c.1728C>T:p.Gly576=	coding	Benign
8	6445460	A	G	A6445460G	MCPH1	NM_024596.5(MCPH1):c.1738A>G:p.Ser580Gly	coding	Benign/Likely_benign
8	6445503	C	G	C6445503G	MCPH1	NM_024596.5(MCPH1):c.1781C>G:p.Thr594Arg	coding	Benign
8	6445503	C	T	C6445503T	MCPH1	NM_024596.5(MCPH1):c.1781C>T:p.Thr594Met	coding	Benign
8	6445504	G	A	G6445504A	MCPH1	NM_024596.5(MCPH1):c.1782G>A:p.Thr594=	coding	Benign
8	6455162	A	C	A6455162C	MCPH1	NM_024596.5(MCPH1):c.1845A>C:p.Thr615=	coding	Benign/Likely_benign
8	6455359	C	T	C6455359T	MCPH1	NM_024596.5(MCPH1):c.1935+107C>T	noncoding	Benign
8	6480785	C	A	C6480785A	MCPH1	NM_024596.5(MCPH1):c.2045C>A:p.Thr682Asn	coding	Benign
8	6481168	G	A	G6481168A	MCPH1	NM_024596.5(MCPH1):c.2136+292G>A	noncoding	Benign
8	6509053	A	G	A6509053G	ANGPT2	NM_001118887.2(ANGPT2):c.1206T>C:p.Leu402=	coding	Benign
8	6514712	C	T	C6514712T	ANGPT2	NM_001118887.2(ANGPT2):c.994G>A:p.Val332Ile	coding	Benign/Likely_benign
8	6514777	G	A	G6514777A	ANGPT2	NM_001118887.2(ANGPT2):c.929C>T:p.Ala310Val	coding	Benign
8	6519986	C	G	C6519986G	ANGPT2	NM_001118887.2(ANGPT2):c.805G>C:p.Asp269His	coding	Benign
8	6521199	T	A	T6521199A	ANGPT2	NM_001118887.2(ANGPT2):c.778A>T:p.Thr260Ser	coding	Benign
8	6521273	A	G	A6521273G	ANGPT2	NM_001118887.2(ANGPT2):c.704T>C:p.Val235Ala	coding	Benign
8	6527546	T	G	T6527546G	ANGPT2	NM_001118887.2(ANGPT2):c.566+9A>C	noncoding	Benign
8	6527629	G	A	G6527629A	ANGPT2	NM_001118887.2(ANGPT2):c.492C>T:p.Ser164=	coding	Benign
8	6527659	C	T	C6527659T	ANGPT2	NM_001118887.2(ANGPT2):c.462G>A:p.Thr154=	coding	Benign
8	6562839	C	T	C6562839T	ANGPT2	NM_001118887.2(ANGPT2):c.96G>A:p.Lys32=	coding	Benign
8	6621435	A	G	A6621435G	MCPH1	NM_024596.5(MCPH1):c.2215-19A>G	coding	Benign
8	6621439	C	G	C6621439G	MCPH1	NM_024596.5(MCPH1):c.2215-15C>G	coding	Benign
8	6621465	C	T	C6621465T	MCPH1	NM_024596.5(MCPH1):c.2226C>T:p.Ser742=	coding	Benign
8	6621489	G	T	G6621489T	MCPH1	NM_024596.5(MCPH1):c.2250G>T:p.Pro750=	coding	Benign/Likely_benign
8	6621495	C	T	C6621495T	MCPH1	NM_024596.5(MCPH1):c.2256C>T:p.Arg752=	coding	Benign/Likely_benign
8	6621521	C	A	C6621521A	MCPH1	NM_024596.5(MCPH1):c.2282C>A:p.Ala761Glu	coding	Benign
8	6621521	C	G	C6621521G	MCPH1	NM_024596.5(MCPH1):c.2282C>G:p.Ala761Gly	coding	Benign
8	6621521	C	T	C6621521T	MCPH1	NM_024596.5(MCPH1):c.2282C>T:p.Ala761Val	coding	Benign
8	6621601	C	T	C6621601T	MCPH1	NM_024596.5(MCPH1):c.2362C>T:p.Gln788Ter	coding	Pathogenic
8	6621639	C	T	C6621639T	MCPH1	NM_024596.5(MCPH1):c.2400C>T:p.Tyr800=	coding	Benign
8	6621657	C	A	C6621657A	MCPH1	NM_024596.5(MCPH1):c.2418C>A:p.Ala806=	coding	Benign
8	6621761	G	T	G6621761T	MCPH1	NM_024596.5(MCPH1):c.2452+70G>T	noncoding	Benign
8	6621911	A	G	A6621911G	MCPH1	NM_024596.5(MCPH1):c.2452+220A>G	noncoding	Benign
8	6621976	G	A	G6621976A	MCPH1	NM_024596.5(MCPH1):c.2452+285G>A	noncoding	Benign
8	6642981	G	A	G6642981A	MCPH1	NM_024596.5(MCPH1):c.2453-13G>A	noncoding	Benign/Likely_benign
8	6642993	G	C	G6642993C	MCPH1	NM_024596.5(MCPH1):c.2453-1G>C	noncoding	Pathogenic
8	6643023	C	T	C6643023T	MCPH1	NM_024596.5(MCPH1):c.2482C>T:p.Pro828Ser	coding	Benign
8	6643230	C	G	C6643230G	MCPH1	NM_024596.5(MCPH1):c.*181C>G	noncoding	Benign
8	6643551	T	C	T6643551C	MCPH1	NM_024596.5(MCPH1):c.*502T>C	noncoding	Benign
8	6757219	G	A	G6757219A	AGPAT5	NM_018361.4(AGPAT5):c.926G>A:p.Gly309Glu	coding	Benign
8	6870807	G	A	G6870807A	DEFB1	NM_005218.4(DEFB1):c.81C>T:p.Gly27=	coding	Benign
8	6925931	C	G	C6925931G	DEFA6	NM_001926.4(DEFA6):c.105G>C:p.Glu35Asp	coding	Benign
8	7055504	C	T	C7055504T	DEFA5	NM_021010.3(DEFA5):c.212G>A:p.Arg71His	coding	Benign
8	7815604	C	A	C7815604A	DEFB107A	NM_001037668.1(DEFB107A):c.25G>T:p.Val9Phe	coding	Benign
8	7836512	A	G	A7836512G	DEFB104A	NM_080389.3(DEFB104A):c.28A>G:p.Ile10Val	coding	Benign
8	7894760	G	A	G7894760A	DEFB4A	NM_004942.4(DEFB4A):c.48G>A:p.Met16Ile	coding	Benign
8	8892426	C	T	C8892426T	MFHAS1	NM_004225.3(MFHAS1):c.633G>A:p.Val211=	coding	Benign
8	8892735	C	T	C8892735T	MFHAS1	NM_004225.3(MFHAS1):c.324G>A:p.Glu108=	coding	Benign
8	8892823	G	C	G8892823C	MFHAS1	NM_004225.3(MFHAS1):c.236C>G:p.Pro79Arg	coding	Benign
8	9029857	G	C	G9029857C	ERI1	NM_153332.4(ERI1):c.873G>C:p.Arg291=	coding	Benign
8	9556224	A	T	A9556224T	TNKS	NM_003747.3(TNKS):c.285A>T:p.Thr95=	coding	Benign
8	9556383	G	A	G9556383A	TNKS	NM_003747.3(TNKS):c.444G>A:p.Ser148=	coding	Benign
8	9580154	T	C	T9580154C	TNKS	NM_003747.3(TNKS):c.674-5T>C	noncoding	Benign
8	9680740	A	G	A9680740G	TNKS	NM_003747.3(TNKS):c.1047A>G:p.Glu349=	coding	Benign
8	9707001	C	T	C9707001T	TNKS	NM_003747.3(TNKS):c.1456+4C>T	noncoding	Benign
8	9734882	T	C	T9734882C	TNKS	NM_003747.3(TNKS):c.2331T>C:p.Thr777=	coding	Benign
8	9751725	C	T	C9751725T	TNKS	NM_003747.3(TNKS):c.2949C>T:p.Pro983=	coding	Benign
8	10538670	G	A	G10538670A	PRSS55	NM_198464.4(PRSS55):c.936G>A:p.Arg312=	coding	Benign
8	10606382	C	G	C10606382G	RP1L1	NM_178857.6(RP1L1):c.*513G>C	noncoding	Benign
8	10606434	A	C	A10606434C	RP1L1	NM_178857.6(RP1L1):c.*461T>G	noncoding	Benign
8	10606451	A	T	A10606451T	RP1L1	NM_178857.6(RP1L1):c.*444T>A	noncoding	Benign
8	10606539	G	C	G10606539C	RP1L1	NM_178857.6(RP1L1):c.*356C>G	noncoding	Benign
8	10606560	A	C	A10606560C	RP1L1	NM_178857.6(RP1L1):c.*335T>G	noncoding	Benign
8	10606563	C	T	C10606563T	RP1L1	NM_178857.6(RP1L1):c.*332G>A	noncoding	Benign
8	10606565	A	C	A10606565C	RP1L1	NM_178857.6(RP1L1):c.*330T>G	noncoding	Benign
8	10606629	G	A	G10606629A	RP1L1	NM_178857.6(RP1L1):c.*266C>T	noncoding	Benign
8	10606651	G	A	G10606651A	RP1L1	NM_178857.6(RP1L1):c.*244C>T	noncoding	Benign
8	10606669	C	G	C10606669G	RP1L1	NM_178857.6(RP1L1):c.*226G>C	noncoding	Benign
8	10606695	C	T	C10606695T	RP1L1	NM_178857.6(RP1L1):c.*200G>A	noncoding	Benign
8	10606696	G	A	G10606696A	RP1L1	NM_178857.6(RP1L1):c.*199C>T	noncoding	Benign
8	10606797	G	A	G10606797A	RP1L1	NM_178857.6(RP1L1):c.*98C>T	noncoding	Benign
8	10606857	G	C	G10606857C	RP1L1	NM_178857.6(RP1L1):c.*38C>G	noncoding	Benign
8	10606955	G	T	G10606955T	RP1L1	NM_178857.6(RP1L1):c.7143C>A:p.Leu2381=	coding	Benign
8	10607094	T	C	T10607094C	RP1L1	NM_178857.6(RP1L1):c.7004A>G:p.His2335Arg	coding	Benign
8	10607105	C	T	C10607105T	RP1L1	NM_178857.6(RP1L1):c.6993G>A:p.Thr2331=	coding	Benign
8	10607106	G	A	G10607106A	RP1L1	NM_178857.6(RP1L1):c.6992C>T:p.Thr2331Met	coding	Benign
8	10607182	A	T	A10607182T	RP1L1	NM_178857.6(RP1L1):c.6916T>A:p.Trp2306Arg	coding	Benign
8	10607245	C	T	C10607245T	RP1L1	NM_178857.6(RP1L1):c.6853G>A:p.Gly2285Arg	coding	Benign
8	10607282	G	A	G10607282A	RP1L1	NM_178857.6(RP1L1):c.6816C>T:p.Val2272=	coding	Benign
8	10607286	G	C	G10607286C	RP1L1	NM_178857.6(RP1L1):c.6812C>G:p.Pro2271Arg	coding	Benign
8	10607375	T	C	T10607375C	RP1L1	NM_178857.6(RP1L1):c.6723A>G:p.Ser2241=	coding	Benign
8	10607380	C	G	C10607380G	RP1L1	NM_178857.6(RP1L1):c.6718G>C:p.Glu2240Gln	coding	Benign
8	10607409	G	A	G10607409A	RP1L1	NM_178857.6(RP1L1):c.6689C>T:p.Thr2230Ile	coding	Benign
8	10607424	G	A	G10607424A	RP1L1	NM_178857.6(RP1L1):c.6674C>T:p.Pro2225Leu	coding	Benign
8	10607454	G	A	G10607454A	RP1L1	NM_178857.6(RP1L1):c.6644C>T:p.Pro2215Leu	coding	Benign
8	10607498	C	T	C10607498T	RP1L1	NM_178857.6(RP1L1):c.6600G>A:p.Glu2200=	coding	Benign/Likely_benign
8	10607502	G	A	G10607502A	RP1L1	NM_178857.6(RP1L1):c.6596C>T:p.Pro2199Leu	coding	Benign
8	10607553	G	T	G10607553T	RP1L1	NM_178857.6(RP1L1):c.6545C>A:p.Ala2182Asp	coding	Benign
8	10607587	C	T	C10607587T	RP1L1	NM_178857.6(RP1L1):c.6511G>A:p.Glu2171Lys	coding	Benign
8	10607667	T	G	T10607667G	RP1L1	NM_178857.6(RP1L1):c.6431A>C:p.Glu2144Ala	coding	Benign
8	10607680	C	T	C10607680T	RP1L1	NM_178857.6(RP1L1):c.6418G>A:p.Glu2140Lys	coding	Benign
8	10607754	C	T	C10607754T	RP1L1	NM_178857.6(RP1L1):c.6344G>A:p.Gly2115Asp	coding	Benign
8	10607776	C	T	C10607776T	RP1L1	NM_178857.6(RP1L1):c.6322G>A:p.Gly2108Arg	coding	Benign
8	10607822	C	T	C10607822T	RP1L1	NM_178857.6(RP1L1):c.6276G>A:p.Gly2092=	coding	Benign
8	10607834	C	A	C10607834A	RP1L1	NM_178857.6(RP1L1):c.6264G>T:p.Gln2088His	coding	Benign
8	10607889	T	A	T10607889A	RP1L1	NM_178857.6(RP1L1):c.6209A>T:p.Glu2070Val	coding	Benign
8	10607924	C	T	C10607924T	RP1L1	NM_178857.6(RP1L1):c.6174G>A:p.Pro2058=	coding	Benign
8	10607939	G	A	G10607939A	RP1L1	NM_178857.6(RP1L1):c.6159C>T:p.Asp2053=	coding	Benign
8	10608101	A	G	A10608101G	RP1L1	NM_178857.6(RP1L1):c.5997T>C:p.Asp1999=	coding	Benign
8	10608337	T	G	T10608337G	RP1L1	NM_178857.6(RP1L1):c.5761A>C:p.Ser1921Arg	coding	Benign
8	10608371	C	T	C10608371T	RP1L1	NM_178857.6(RP1L1):c.5727G>A:p.Pro1909=	coding	Benign
8	10608579	G	C	G10608579C	RP1L1	NM_178857.6(RP1L1):c.5519C>G:p.Ala1840Gly	coding	Benign
8	10608615	T	G	T10608615G	RP1L1	NM_178857.6(RP1L1):c.5483A>C:p.Gln1828Pro	coding	Benign
8	10608628	G	A	G10608628A	RP1L1	NM_178857.6(RP1L1):c.5470C>T:p.Gln1824Ter	coding	Pathogenic
8	10608651	C	T	C10608651T	RP1L1	NM_178857.6(RP1L1):c.5447G>A:p.Gly1816Asp	coding	Benign
8	10608677	G	C	G10608677C	RP1L1	NM_178857.6(RP1L1):c.5421C>G:p.Gly1807=	coding	Benign
8	10608750	G	A	G10608750A	RP1L1	NM_178857.6(RP1L1):c.5348C>T:p.Ala1783Val	coding	Benign
8	10608814	C	T	C10608814T	RP1L1	NM_178857.6(RP1L1):c.5284G>A:p.Glu1762Lys	coding	Benign
8	10608874	C	T	C10608874T	RP1L1	NM_178857.6(RP1L1):c.5224G>A:p.Glu1742Lys	coding	Benign
8	10608960	G	T	G10608960T	RP1L1	NM_178857.6(RP1L1):c.5138C>A:p.Thr1713Asn	coding	Benign
8	10608972	G	A	G10608972A	RP1L1	NM_178857.6(RP1L1):c.5126C>T:p.Ala1709Val	coding	Benign
8	10609145	C	T	C10609145T	RP1L1	NM_178857.6(RP1L1):c.4953G>A:p.Ala1651=	coding	Benign
8	10609192	C	T	C10609192T	RP1L1	NM_178857.6(RP1L1):c.4906G>A:p.Glu1636Lys	coding	Benign
8	10609193	G	A	G10609193A	RP1L1	NM_178857.6(RP1L1):c.4905C>T:p.Asp1635=	coding	Benign
8	10609233	C	T	C10609233T	RP1L1	NM_178857.6(RP1L1):c.4865G>A:p.Arg1622Gln	coding	Benign/Likely_benign
8	10609301	C	A	C10609301A	RP1L1	NM_178857.6(RP1L1):c.4797G>T:p.Leu1599=	coding	Benign
8	10609310	G	A	G10609310A	RP1L1	NM_178857.6(RP1L1):c.4788C>T:p.Thr1596=	coding	Benign
8	10609427	C	T	C10609427T	RP1L1	NM_178857.6(RP1L1):c.4671G>A:p.Ala1557=	coding	Benign/Likely_benign
8	10609436	G	C	G10609436C	RP1L1	NM_178857.6(RP1L1):c.4662C>G:p.Asp1554Glu	coding	Benign
8	10609478	C	G	C10609478G	RP1L1	NM_178857.6(RP1L1):c.4620G>C:p.Glu1540Asp	coding	Benign
8	10609584	G	A	G10609584A	RP1L1	NM_178857.6(RP1L1):c.4514C>T:p.Ser1505Leu	coding	Benign
8	10609614	G	C	G10609614C	RP1L1	NM_178857.6(RP1L1):c.4484C>G:p.Pro1495Arg	coding	Benign
8	10609616	T	C	T10609616C	RP1L1	NM_178857.6(RP1L1):c.4482A>G:p.Gln1494=	coding	Benign
8	10609620	G	A	G10609620A	RP1L1	NM_178857.6(RP1L1):c.4478C>T:p.Ala1493Val	coding	Benign
8	10609650	G	A	G10609650A	RP1L1	NM_178857.6(RP1L1):c.4448C>T:p.Ala1483Val	coding	Benign
8	10609654	C	T	C10609654T	RP1L1	NM_178857.6(RP1L1):c.4444G>A:p.Gly1482Arg	coding	Benign
8	10609658	C	A	C10609658A	RP1L1	NM_178857.6(RP1L1):c.4440G>T:p.Pro1480=	coding	Benign
8	10609658	C	T	C10609658T	RP1L1	NM_178857.6(RP1L1):c.4440G>A:p.Pro1480=	coding	Benign
8	10609697	C	A	C10609697A	RP1L1	NM_178857.6(RP1L1):c.4401G>T:p.Arg1467Ser	coding	Benign
8	10609775	C	T	C10609775T	RP1L1	NM_178857.6(RP1L1):c.4323G>A:p.Pro1441=	coding	Benign
8	10609823	G	T	G10609823T	RP1L1	NM_178857.6(RP1L1):c.4275C>A:p.Asp1425Glu	coding	Benign
8	10609900	G	T	G10609900T	RP1L1	NM_178857.6(RP1L1):c.4198C>A:p.Pro1400Thr	coding	Benign
8	10609993	C	T	C10609993T	RP1L1	NM_178857.6(RP1L1):c.4105G>A:p.Glu1369Lys	coding	Benign
8	10610007	C	G	C10610007G	RP1L1	NM_178857.6(RP1L1):c.4091G>C:p.Gly1364Ala	coding	Benign
8	10610137	G	C	G10610137C	RP1L1	NM_178857.6(RP1L1):c.3961C>G:p.Gln1321Glu	coding	Benign
8	10610142	G	A	G10610142A	RP1L1	NM_178857.6(RP1L1):c.3956C>T:p.Ala1319Val	coding	Benign
8	10610142	G	C	G10610142C	RP1L1	NM_178857.6(RP1L1):c.3956C>G:p.Ala1319Gly	coding	Benign
8	10610143	C	T	C10610143T	RP1L1	NM_178857.6(RP1L1):c.3955G>A:p.Ala1319Thr	coding	Benign
8	10610184	T	C	T10610184C	RP1L1	NM_178857.6(RP1L1):c.3914A>G:p.Glu1305Gly	coding	Benign
8	10610407	G	A	G10610407A	RP1L1	NM_178857.6(RP1L1):c.3691C>T:p.Pro1231Ser	coding	Benign
8	10610438	G	A	G10610438A	RP1L1	NM_178857.6(RP1L1):c.3660C>T:p.Asp1220=	coding	Benign
8	10610516	C	A	C10610516A	RP1L1	NM_178857.6(RP1L1):c.3582G>T:p.Thr1194=	coding	Benign
8	10610529	G	A	G10610529A	RP1L1	NM_178857.6(RP1L1):c.3569C>T:p.Thr1190Met	coding	Benign
8	10610544	C	T	C10610544T	RP1L1	NM_178857.6(RP1L1):c.3554G>A:p.Gly1185Glu	coding	Benign
8	10610584	G	T	G10610584T	RP1L1	NM_178857.6(RP1L1):c.3514C>A:p.Leu1172Ile	coding	Benign
8	10610662	G	A	G10610662A	RP1L1	NM_178857.6(RP1L1):c.3436C>T:p.Arg1146Trp	coding	Benign
8	10610758	A	T	A10610758T	RP1L1	NM_178857.6(RP1L1):c.3340T>A:p.Ser1114Thr	coding	Benign
8	10610795	G	C	G10610795C	RP1L1	NM_178857.6(RP1L1):c.3303C>G:p.Pro1101=	coding	Benign
8	10610835	G	A	G10610835A	RP1L1	NM_178857.6(RP1L1):c.3263C>T:p.Ala1088Val	coding	Benign
8	10610843	G	C	G10610843C	RP1L1	NM_178857.6(RP1L1):c.3255C>G:p.Ile1085Met	coding	Benign
8	10610867	G	C	G10610867C	RP1L1	NM_178857.6(RP1L1):c.3231C>G:p.Gly1077=	coding	Benign
8	10610897	G	A	G10610897A	RP1L1	NM_178857.6(RP1L1):c.3201C>T:p.Gly1067=	coding	Benign
8	10610976	C	G	C10610976G	RP1L1	NM_178857.6(RP1L1):c.3122G>C:p.Gly1041Ala	coding	Benign
8	10611031	C	G	C10611031G	RP1L1	NM_178857.6(RP1L1):c.3067G>C:p.Glu1023Gln	coding	Benign
8	10611045	G	T	G10611045T	RP1L1	NM_178857.6(RP1L1):c.3053C>A:p.Pro1018His	coding	Benign
8	10611071	C	T	C10611071T	RP1L1	NM_178857.6(RP1L1):c.3027G>A:p.Ala1009=	coding	Benign
8	10611072	G	A	G10611072A	RP1L1	NM_178857.6(RP1L1):c.3026C>T:p.Ala1009Val	coding	Benign
8	10611107	G	C	G10611107C	RP1L1	NM_178857.6(RP1L1):c.2991C>G:p.Asp997Glu	coding	Benign
8	10611121	C	T	C10611121T	RP1L1	NM_178857.6(RP1L1):c.2977G>A:p.Asp993Asn	coding	Benign
8	10611170	C	T	C10611170T	RP1L1	NM_178857.6(RP1L1):c.2928G>A:p.Ala976=	coding	Benign
8	10611175	A	T	A10611175T	RP1L1	NM_178857.6(RP1L1):c.2923T>A:p.Leu975Met	coding	Benign
8	10611199	C	T	C10611199T	RP1L1	NM_178857.6(RP1L1):c.2899G>A:p.Glu967Lys	coding	Benign/Likely_benign
8	10611248	G	A	G10611248A	RP1L1	NM_178857.6(RP1L1):c.2850C>T:p.Arg950=	coding	Benign
8	10611250	G	A	G10611250A	RP1L1	NM_178857.6(RP1L1):c.2848C>T:p.Arg950Cys	coding	Benign
8	10611250	G	C	G10611250C	RP1L1	NM_178857.6(RP1L1):c.2848C>G:p.Arg950Gly	coding	Benign
8	10611307	C	G	C10611307G	RP1L1	NM_178857.6(RP1L1):c.2791G>C:p.Gly931Arg	coding	Benign
8	10611318	G	T	G10611318T	RP1L1	NM_178857.6(RP1L1):c.2780C>A:p.Thr927Asn	coding	Benign
8	10611402	G	A	G10611402A	RP1L1	NM_178857.6(RP1L1):c.2696C>T:p.Pro899Leu	coding	Benign
8	10611455	G	A	G10611455A	RP1L1	NM_178857.6(RP1L1):c.2643C>T:p.Ala881=	coding	Benign
8	10611478	C	T	C10611478T	RP1L1	NM_178857.6(RP1L1):c.2620G>A:p.Gly874Ser	coding	Benign
8	10611515	G	A	G10611515A	RP1L1	NM_178857.6(RP1L1):c.2583C>T:p.Pro861=	coding	Benign
8	10611520	G	A	G10611520A	RP1L1	NM_178857.6(RP1L1):c.2578C>T:p.Arg860Trp	coding	Benign
8	10611530	C	T	C10611530T	RP1L1	NM_178857.6(RP1L1):c.2568G>A:p.Pro856=	coding	Benign
8	10611582	C	T	C10611582T	RP1L1	NM_178857.6(RP1L1):c.2516G>A:p.Arg839Gln	coding	Benign
8	10611599	C	T	C10611599T	RP1L1	NM_178857.6(RP1L1):c.2499G>A:p.Pro833=	coding	Benign
8	10611633	C	T	C10611633T	RP1L1	NM_178857.6(RP1L1):c.2465G>A:p.Arg822Gln	coding	Benign
8	10611657	T	C	T10611657C	RP1L1	NM_178857.6(RP1L1):c.2441A>G:p.Glu814Gly	coding	Benign
8	10611702	G	A	G10611702A	RP1L1	NM_178857.6(RP1L1):c.2396C>T:p.Thr799Met	coding	Benign
8	10611723	A	G	A10611723G	RP1L1	NM_178857.6(RP1L1):c.2375T>C:p.Leu792Pro	coding	Benign
8	10611733	C	T	C10611733T	RP1L1	NM_178857.6(RP1L1):c.2365G>A:p.Ala789Thr	coding	Benign
8	10611779	C	T	C10611779T	RP1L1	NM_178857.6(RP1L1):c.2319G>A:p.Pro773=	coding	Benign
8	10611782	C	T	C10611782T	RP1L1	NM_178857.6(RP1L1):c.2316G>A:p.Ser772=	coding	Benign
8	10611830	G	A	G10611830A	RP1L1	NM_178857.6(RP1L1):c.2268C>T:p.Asn756=	coding	Benign
8	10611860	C	T	C10611860T	RP1L1	NM_178857.6(RP1L1):c.2238G>A:p.Ser746=	coding	Benign
8	10611907	C	T	C10611907T	RP1L1	NM_178857.6(RP1L1):c.2191G>A:p.Asp731Asn	coding	Benign
8	10611924	C	A	C10611924A	RP1L1	NM_178857.6(RP1L1):c.2174G>T:p.Gly725Val	coding	Benign
8	10611926	C	T	C10611926T	RP1L1	NM_178857.6(RP1L1):c.2172G>A:p.Ser724=	coding	Benign
8	10611944	G	T	G10611944T	RP1L1	NM_178857.6(RP1L1):c.2154C>A:p.Asn718Lys	coding	Benign
8	10611971	C	T	C10611971T	RP1L1	NM_178857.6(RP1L1):c.2127G>A:p.Ser709=	coding	Benign
8	10612049	G	A	G10612049A	RP1L1	NM_178857.6(RP1L1):c.2049C>T:p.Thr683=	coding	Benign
8	10612126	G	A	G10612126A	RP1L1	NM_178857.6(RP1L1):c.1972C>T:p.Arg658Ter	coding	Pathogenic
8	10612287	G	A	G10612287A	RP1L1	NM_178857.6(RP1L1):c.1811C>T:p.Ala604Val	coding	Benign
8	10612303	C	T	C10612303T	RP1L1	NM_178857.6(RP1L1):c.1795G>A:p.Glu599Lys	coding	Benign
8	10612307	G	A	G10612307A	RP1L1	NM_178857.6(RP1L1):c.1791C>T:p.Gly597=	coding	Benign
8	10612319	C	T	C10612319T	RP1L1	NM_178857.6(RP1L1):c.1779G>A:p.Thr593=	coding	Benign
8	10612335	T	C	T10612335C	RP1L1	NM_178857.6(RP1L1):c.1763A>G:p.Asp588Gly	coding	Benign
8	10612407	G	C	G10612407C	RP1L1	NM_178857.6(RP1L1):c.1691C>G:p.Ser564Cys	coding	Benign
8	10612493	C	T	C10612493T	RP1L1	NM_178857.6(RP1L1):c.1605G>A:p.Ser535=	coding	Benign
8	10612499	C	T	C10612499T	RP1L1	NM_178857.6(RP1L1):c.1599G>A:p.Ser533=	coding	Benign
8	10612543	C	T	C10612543T	RP1L1	NM_178857.6(RP1L1):c.1555G>A:p.Gly519Ser	coding	Benign
8	10612547	T	C	T10612547C	RP1L1	NM_178857.6(RP1L1):c.1551A>G:p.Gln517=	coding	Benign
8	10612558	C	T	C10612558T	RP1L1	NM_178857.6(RP1L1):c.1540G>A:p.Gly514Ser	coding	Benign
8	10612620	C	T	C10612620T	RP1L1	NM_178857.6(RP1L1):c.1478G>A:p.Arg493Gln	coding	Benign
8	10612638	G	A	G10612638A	RP1L1	NM_178857.6(RP1L1):c.1460C>T:p.Ala487Val	coding	Benign
8	10612712	G	A	G10612712A	RP1L1	NM_178857.6(RP1L1):c.1386C>T:p.Pro462=	coding	Benign
8	10612778	G	A	G10612778A	RP1L1	NM_178857.6(RP1L1):c.1320C>T:p.His440=	coding	Benign
8	10612801	G	A	G10612801A	RP1L1	NM_178857.6(RP1L1):c.1297C>T:p.Arg433Cys	coding	Benign
8	10612808	C	A	C10612808A	RP1L1	NM_178857.6(RP1L1):c.1290G>T:p.Gln430His	coding	Benign
8	10612825	T	G	T10612825G	RP1L1	NM_178857.6(RP1L1):c.1273A>C:p.Arg425=	coding	Benign
8	10612909	G	A	G10612909A	RP1L1	NM_178857.6(RP1L1):c.1189C>T:p.Arg397Ter	coding	Pathogenic
8	10612960	C	T	C10612960T	RP1L1	NM_178857.6(RP1L1):c.1138G>A:p.Gly380Arg	coding	Benign/Likely_benign
8	10612970	G	C	G10612970C	RP1L1	NM_178857.6(RP1L1):c.1128C>G:p.Phe376Leu	coding	Benign
8	10612976	C	T	C10612976T	RP1L1	NM_178857.6(RP1L1):c.1122G>A:p.Trp374Ter	coding	Pathogenic
8	10612991	C	T	C10612991T	RP1L1	NM_178857.6(RP1L1):c.1107G>A:p.Trp369Ter	coding	Pathogenic/Likely_pathogenic
8	10613063	C	T	C10613063T	RP1L1	NM_178857.6(RP1L1):c.1035G>A:p.Arg345=	coding	Benign
8	10613144	G	A	G10613144A	RP1L1	NM_178857.6(RP1L1):c.954C>T:p.Asp318=	coding	Benign
8	10613158	G	A	G10613158A	RP1L1	NM_178857.6(RP1L1):c.940C>T:p.Arg314Cys	coding	Benign
8	10613247	G	A	G10613247A	RP1L1	NM_178857.6(RP1L1):c.851C>T:p.Pro284Leu	coding	Benign
8	10613248	G	C	G10613248C	RP1L1	NM_178857.6(RP1L1):c.850C>G:p.Pro284Ala	coding	Benign
8	10613254	T	G	T10613254G	RP1L1	NM_178857.6(RP1L1):c.844A>C:p.Asn282His	coding	Benign
8	10613284	G	C	G10613284C	RP1L1	NM_178857.6(RP1L1):c.814C>G:p.Pro272Ala	coding	Benign
8	10613305	G	C	G10613305C	RP1L1	NM_178857.6(RP1L1):c.793C>G:p.Arg265Gly	coding	Benign
8	10613306	C	T	C10613306T	RP1L1	NM_178857.6(RP1L1):c.792G>A:p.Ser264=	coding	Benign
8	10613322	G	T	G10613322T	RP1L1	NM_178857.6(RP1L1):c.776C>A:p.Pro259Gln	coding	Benign
8	10616527	C	T	C10616527T	RP1L1	NM_178857.6(RP1L1):c.670G>A:p.Ala224Thr	coding	Benign
8	10616532	T	G	T10616532G	RP1L1	NM_178857.6(RP1L1):c.665A>C:p.His222Pro	coding	Benign
8	10616575	G	T	G10616575T	RP1L1	NM_178857.6(RP1L1):c.622C>A:p.Gln208Lys	coding	Benign
8	10616600	C	T	C10616600T	RP1L1	NM_178857.6(RP1L1):c.610-13G>A	noncoding	Benign
8	10622608	C	T	C10622608T	RP1L1	NM_178857.6(RP1L1):c.594G>A:p.Thr198=	coding	Benign/Likely_benign
8	10622634	G	A	G10622634A	RP1L1	NM_178857.6(RP1L1):c.568C>T:p.Arg190Cys	coding	Benign/Likely_benign
8	10622655	C	T	C10622655T	RP1L1	NM_178857.6(RP1L1):c.547G>A:p.Gly183Ser	coding	Benign
8	10622701	T	C	T10622701C	RP1L1	NM_178857.6(RP1L1):c.501A>G:p.Thr167=	coding	Benign
8	10622713	G	T	G10622713T	RP1L1	NM_178857.6(RP1L1):c.489C>A:p.Arg163=	coding	Benign/Likely_benign
8	10622714	C	T	C10622714T	RP1L1	NM_178857.6(RP1L1):c.488G>A:p.Arg163His	coding	Benign
8	10622758	A	C	A10622758C	RP1L1	NM_178857.6(RP1L1):c.444T>G:p.Leu148=	coding	Benign
8	10622782	G	T	G10622782T	RP1L1	NM_178857.6(RP1L1):c.420C>A:p.Gly140=	coding	Benign
8	10622795	C	T	C10622795T	RP1L1	NM_178857.6(RP1L1):c.407G>A:p.Arg136His	coding	Benign/Likely_benign
8	10622850	G	A	G10622850A	RP1L1	NM_178857.6(RP1L1):c.352C>T:p.Arg118Trp	coding	Benign
8	10622867	G	C	G10622867C	RP1L1	NM_178857.6(RP1L1):c.335C>G:p.Thr112Ser	coding	Benign
8	10622874	G	A	G10622874A	RP1L1	NM_178857.6(RP1L1):c.328C>T:p.Pro110Ser	coding	Benign
8	10622913	C	G	C10622913G	RP1L1	NM_178857.6(RP1L1):c.289G>C:p.Glu97Gln	coding	Benign
8	10622949	G	A	G10622949A	RP1L1	NM_178857.6(RP1L1):c.253C>T:p.Arg85Trp	coding	Benign
8	10622953	T	C	T10622953C	RP1L1	NM_178857.6(RP1L1):c.249A>G:p.Thr83=	coding	Benign
8	10622989	G	A	G10622989A	RP1L1	NM_178857.6(RP1L1):c.213C>T:p.Arg71=	coding	Benign
8	10623004	G	A	G10623004A	RP1L1	NM_178857.6(RP1L1):c.198C>T:p.Asp66=	coding	Benign
8	10623012	G	A	G10623012A	RP1L1	NM_178857.6(RP1L1):c.190C>T:p.Leu64Phe	coding	Benign
8	10623036	G	A	G10623036A	RP1L1	NM_178857.6(RP1L1):c.166C>T:p.Arg56Cys	coding	Benign
8	10623046	G	A	G10623046A	RP1L1	NM_178857.6(RP1L1):c.156C>T:p.Ala52=	coding	Benign
8	10623068	C	T	C10623068T	RP1L1	NM_178857.6(RP1L1):c.134G>A:p.Arg45Gln	coding	Benign
8	10623072	G	C	G10623072C	RP1L1	NM_178857.6(RP1L1):c.130C>G:p.Pro44Ala	coding	Benign
8	10623125	G	A	G10623125A	RP1L1	NM_178857.6(RP1L1):c.77C>T:p.Ser26Leu	coding	Benign/Likely_benign
8	10623146	G	T	G10623146T	RP1L1	NM_178857.6(RP1L1):c.56C>A:p.Pro19His	coding	Pathogenic
8	10623157	C	T	C10623157T	RP1L1	NM_178857.6(RP1L1):c.45G>A:p.Glu15=	coding	Benign
8	10623169	C	T	C10623169T	RP1L1	NM_178857.6(RP1L1):c.33G>A:p.Pro11=	coding	Benign
8	10623170	G	A	G10623170A	RP1L1	NM_178857.6(RP1L1):c.32C>T:p.Pro11Leu	coding	Benign/Likely_benign
8	10623178	G	C	G10623178C	RP1L1	NM_178857.6(RP1L1):c.24C>G:p.Ala8=	coding	Benign
8	10623209	G	A	G10623209A	RP1L1	NM_178857.6(RP1L1):c.-8C>T	noncoding	Benign
8	10655001	G	C	G10655001C	RP1L1	NM_178857.6(RP1L1):c.-123C>G	noncoding	Benign
8	10655031	G	T	G10655031T	RP1L1	NM_178857.6(RP1L1):c.-153C>A	noncoding	Benign
8	10725966	G	A	G10725966A	SOX7	NM_031439.4(SOX7):c.939C>T:p.Asp313=	coding	Benign
8	10726106	C	T	C10726106T	SOX7	NM_031439.4(SOX7):c.799G>A:p.Gly267Ser	coding	Benign
8	10726188	C	T	C10726188T	SOX7	NM_031439.4(SOX7):c.717G>A:p.Gly239=	coding	Benign
8	10726599	G	A	G10726599A	SOX7	NM_031439.4(SOX7):c.306C>T:p.Arg102=	coding	Benign
8	10765704	G	C	G10765704C	PINX1	NM_017884.6(PINX1):c.684C>G:p.Leu228=	coding	Benign
8	11300108	C	G	C11300108G	MTMR9	NM_015458.4(MTMR9):c.377C>G:p.Ser126Cys	coding	Benign
8	11314968	C	T	C11314968T	MTMR9	NM_015458.4(MTMR9):c.1017C>T:p.Ser339=	coding	Benign
8	11322779	G	C	G11322779C	MTMR9	NM_015458.4(MTMR9):c.1641G>C:p.Glu547Asp	coding	Benign
8	11494403	C	T	C11494403T	BLK	NM_001715.3(BLK):c.-190C>T	noncoding	Benign
8	11494428	G	T	G11494428T	BLK	NM_001715.3(BLK):c.-165G>T	noncoding	Benign
8	11494547	A	G	A11494547G	BLK	NM_001715.3(BLK):c.-46A>G	noncoding	Benign
8	11543263	G	A	G11543263A	BLK	NM_001715.3(BLK):c.39G>A:p.Lys13=	coding	Benign
8	11543326	C	T	C11543326T	BLK	NM_001715.3(BLK):c.102C>T:p.Asp34=	coding	Benign
8	11543340	C	T	C11543340T	BLK	NM_001715.3(BLK):c.116C>T:p.Pro39Leu	coding	Benign/Likely_benign
8	11548033	C	G	C11548033G	BLK	NM_001715.3(BLK):c.177C>G:p.Asp59Glu	coding	Benign/Likely_benign
8	11548043	G	A	G11548043A	BLK	NM_001715.3(BLK):c.187G>A:p.Val63Met	coding	Benign
8	11548108	G	C	G11548108C	BLK	NM_001715.3(BLK):c.252G>C:p.Lys84Asn	coding	Benign
8	11548114	G	A	G11548114A	BLK	NM_001715.3(BLK):c.258G>A:p.Gln86=	coding	Benign
8	11549055	G	A	G11549055A	BLK	NM_001715.3(BLK):c.301G>A:p.Val101Ile	coding	Benign
8	11549084	T	C	T11549084C	BLK	NM_001715.3(BLK):c.330T>C:p.Ser110=	coding	Benign
8	11549089	T	C	T11549089C	BLK	NM_001715.3(BLK):c.335T>C:p.Phe112Ser	coding	Benign
8	11549098	G	A	G11549098A	BLK	NM_001715.3(BLK):c.344G>A:p.Arg115Gln	coding	Benign
8	11550157	A	G	A11550157G	BLK	NM_001715.3(BLK):c.369-2A>G	noncoding	Benign
8	11550181	C	A	C11550181A	BLK	NM_001715.3(BLK):c.391C>A:p.Arg131=	coding	Benign
8	11550182	G	A	G11550182A	BLK	NM_001715.3(BLK):c.392G>A:p.Arg131Gln	coding	Benign
8	11550214	A	G	A11550214G	BLK	NM_001715.3(BLK):c.424A>G:p.Ile142Val	coding	Benign
8	11550225	C	T	C11550225T	BLK	NM_001715.3(BLK):c.435C>T:p.Ala145=	coding	Benign
8	11550274	G	A	G11550274A	BLK	NM_001715.3(BLK):c.472+12G>A	noncoding	Benign
8	11555384	C	T	C11555384T	BLK	NM_001715.3(BLK):c.672C>T:p.Ala224=	coding	Benign
8	11555423	C	T	C11555423T	BLK	NM_001715.3(BLK):c.711C>T:p.Pro237=	coding	Benign/Likely_benign
8	11555425	G	A	G11555425A	BLK	NM_001715.3(BLK):c.713G>A:p.Arg238Gln	coding	Benign/Likely_benign
8	11555465	A	G	A11555465G	BLK	NM_001715.3(BLK):c.753A>G:p.Gln251=	coding	Benign
8	11556728	T	C	T11556728C	BLK	NM_001715.3(BLK):c.843T>C:p.Phe281=	coding	Benign
8	11556764	C	T	C11556764T	BLK	NM_001715.3(BLK):c.879C>T:p.His293=	coding	Benign
8	11556804	C	G	C11556804G	BLK	NM_001715.3(BLK):c.919C>G:p.Pro307Ala	coding	Pathogenic
8	11557983	A	C	A11557983C	BLK	NM_001715.3(BLK):c.974A>C:p.Lys325Thr	coding	Benign/Likely_benign
8	11558030	T	G	T11558030G	BLK	NM_001715.3(BLK):c.1021T>G:p.Ser341Ala	coding	Benign/Likely_benign
8	11561320	T	C	T11561320C	BLK	NM_001715.3(BLK):c.1048T>C:p.Tyr350His	coding	Pathogenic
8	11561329	C	T	C11561329T	BLK	NM_001715.3(BLK):c.1057C>T:p.Arg353Cys	coding	Benign
8	11563939	G	A	G11563939A	BLK	NM_001715.3(BLK):c.1349G>A:p.Arg450His	coding	Benign
8	11564200	G	C	G11564200C	BLK	NM_001715.3(BLK):c.*92G>C	noncoding	Benign
8	11564284	C	T	C11564284T	BLK	NM_001715.3(BLK):c.*176C>T	noncoding	Benign
8	11564446	T	G	T11564446G	BLK	NM_001715.3(BLK):c.*338T>G	noncoding	Benign
8	11564456	C	G	C11564456G	BLK	NM_001715.3(BLK):c.*348C>G	noncoding	Benign
8	11564536	G	A	G11564536A	BLK	NM_001715.3(BLK):c.*428G>A	noncoding	Benign
8	11564552	C	A	C11564552A	BLK	NM_001715.3(BLK):c.*444C>A	noncoding	Benign
8	11564613	G	T	G11564613T	BLK	NM_001715.2(BLK):c.*505G>T	noncoding	Pathogenic
8	11708335	C	A	C11708335A	GATA4	NM_002052.5(GATA4):c.23C>A:p.Ala8Asp	coding	Pathogenic
8	11708337	G	A	G11708337A	GATA4	NM_002052.5(GATA4):c.25G>A:p.Ala9Thr	coding	Pathogenic
8	11708339	C	A	C11708339A	GATA4	NM_002052.5(GATA4):c.27C>A:p.Ala9=	coding	Pathogenic
8	11708411	G	T	G11708411T	GATA4	NM_002052.5(GATA4):c.99G>T:p.Ala33=	coding	Benign
8	11708467	C	T	C11708467T	GATA4	NM_002052.5(GATA4):c.155C>T:p.Ser52Phe	coding	Pathogenic
8	11708535	G	T	G11708535T	GATA4	NM_002052.5(GATA4):c.223G>T:p.Ala75Ser	coding	Benign
8	11708695	A	T	A11708695T	GATA4	NM_002052.5(GATA4):c.383A>T:p.Glu128Val	coding	Pathogenic
8	11708709	A	T	A11708709T	GATA4	NM_002052.5(GATA4):c.397A>T:p.Ser133Cys	coding	Pathogenic
8	11708774	C	T	C11708774T	GATA4	NM_002052.5(GATA4):c.462C>T:p.Phe154=	coding	Benign/Likely_benign
8	11748929	C	T	C11748929T	GATA4	NM_002052.5(GATA4):c.627C>T:p.Asp209=	coding	Benign/Likely_benign
8	11748963	G	A	G11748963A	GATA4	NM_002052.5(GATA4):c.661G>A:p.Gly221Arg	coding	Pathogenic
8	11748984	T	A	T11748984A	GATA4	NM_002052.5(GATA4):c.682T>A:p.Trp228Arg	coding	Pathogenic
8	11748986	G	C	G11748986C	GATA4	NM_001308093.3(GATA4):c.687G>C:p.Trp229Cys	coding	Pathogenic
8	11749001	G	A	G11749001A	GATA4	NM_002052.5(GATA4):c.699G>A:p.Thr233=	coding	Benign/Likely_benign
8	11749025	C	T	C11749025T	GATA4	NM_002052.5(GATA4):c.723C>T:p.Cys241=	coding	Benign/Likely_benign
8	11749034	C	T	C11749034T	GATA4	NM_002052.5(GATA4):c.732C>T:p.Tyr244=	coding	Benign/Likely_benign
8	11750212	C	T	C11750212T	GATA4	NM_002052.5(GATA4):c.885C>T:p.Cys295=	coding	Benign
8	11750213	G	A	G11750213A	GATA4	NM_002052.5(GATA4):c.886G>A:p.Gly296Ser	coding	Pathogenic
8	11750213	G	C	G11750213C	GATA4	NM_002052.5(GATA4):c.886G>C:p.Gly296Arg	coding	Pathogenic
8	11750213	G	T	G11750213T	GATA4	NM_002052.5(GATA4):c.886G>T:p.Gly296Cys	coding	Pathogenic
8	11754991	T	C	T11754991C	GATA4	NM_002052.5(GATA4):c.910-55T>C	noncoding	Pathogenic
8	11755051	C	T	C11755051T	GATA4	NM_002052.5(GATA4):c.915C>T:p.Pro305=	coding	Benign/Likely_benign
8	11755064	A	G	A11755064G	GATA4	NM_002052.5(GATA4):c.928A>G:p.Met310Val	coding	Pathogenic
8	11755082	C	G	C11755082G	GATA4	NM_002052.5(GATA4):c.946C>G:p.Gln316Glu	coding	Pathogenic
8	11755135	T	G	T11755135G	GATA4	NM_002052.5(GATA4):c.997+2T>G	noncoding	Pathogenic
8	11756909	G	A	G11756909A	GATA4	NM_002052.5(GATA4):c.998-26G>A	noncoding	Pathogenic
8	11756931	C	G	C11756931G	GATA4	NM_002052.5(GATA4):c.998-4C>G	noncoding	Benign
8	11756960	T	C	T11756960C	GATA4	NM_002052.5(GATA4):c.1023T>C:p.Pro341=	coding	Benign
8	11756993	C	T	C11756993T	GATA4	NM_002052.5(GATA4):c.1056C>T:p.Asn352=	coding	Benign
8	11757001	C	G	C11757001G	GATA4	NM_002052.5(GATA4):c.1064C>G:p.Thr355Ser	coding	Benign
8	11757010	G	C	G11757010C	GATA4	NM_002052.5(GATA4):c.1073G>C:p.Ser358Thr	coding	Benign
8	11757012	G	A	G11757012A	GATA4	NM_002052.5(GATA4):c.1075G>A:p.Glu359Lys	coding	Pathogenic
8	11757012	G	T	G11757012T	GATA4	NM_001308093.3(GATA4):c.1078G>T:p.Glu360Ter	coding	Pathogenic
8	11757050	A	G	A11757050G	GATA4	NM_002052.5(GATA4):c.1113A>G:p.Ser371=	coding	Benign
8	11757059	C	T	C11757059T	GATA4	NM_002052.5(GATA4):c.1122C>T:p.Tyr374=	coding	Benign
8	11757066	A	G	A11757066G	GATA4	NM_002052.5(GATA4):c.1129A>G:p.Ser377Gly	coding	Benign
8	11757074	C	T	C11757074T	GATA4	NM_002052.5(GATA4):c.1137C>T:p.Ser379=	coding	Benign/Likely_benign
8	11757075	G	A	G11757075A	GATA4	NM_002052.5(GATA4):c.1138G>A:p.Val380Met	coding	Benign
8	11758326	C	A	C11758326A	GATA4	NM_002052.5(GATA4):c.1180C>A:p.Pro394Thr	coding	Benign
8	11758367	A	C	A11758367C	GATA4	NM_002052.5(GATA4):c.1221A>C:p.Pro407=	coding	Benign/Likely_benign
8	11758378	C	T	C11758378T	GATA4	NM_002052.5(GATA4):c.1232C>T:p.Ala411Val	coding	Benign
8	11758409	C	T	C11758409T	GATA4	NM_002052.5(GATA4):c.1263C>T:p.Ser421=	coding	Pathogenic
8	11758471	C	T	C11758471T	GATA4	NM_002052.5(GATA4):c.1325C>T:p.Ala442Val	coding	Pathogenic
8	11758472	G	A	G11758472A	GATA4	NM_002052.5(GATA4):c.1326G>A:p.Ala442=	coding	Benign
8	11759643	T	C	T11759643C	GATA4	NM_002052.5(GATA4):c.*1168T>C	noncoding	Pathogenic
8	11771561	G	A	G11771561A	NEIL2	NM_145043.4(NEIL2):c.114G>A:p.Gln38=	coding	Benign
8	11779766	C	T	C11779766T	NEIL2	NM_145043.4(NEIL2):c.307C>T:p.Arg103Trp	coding	Benign
8	11783344	C	T	C11783344T	NEIL2	NM_145043.4(NEIL2):c.633C>T:p.Gly211=	coding	Benign
8	11786184	C	A	C11786184A	NEIL2	NM_145043.4(NEIL2):c.910C>A:p.Pro304Thr	coding	Benign
8	11786222	G	A	G11786222A	NEIL2	NM_145043.4(NEIL2):c.948G>A:p.Pro316=	coding	Benign
8	11808875	C	T	C11808875T	FDFT1	NM_004462.5(FDFT1):c.181C>T:p.Leu61=	coding	Benign
8	11821827	G	A	G11821827A	FDFT1	NM_004462.5(FDFT1):c.459G>A:p.Gly153=	coding	Benign
8	11838552	G	A	G11838552A	FDFT1	NM_004462.5(FDFT1):c.1197G>A:p.Gln399=	coding	Benign
8	11845144	T	G	T11845144G	CTSB	NM_001908.5(CTSB):c.1001A>C:p.Gln334Pro	coding	Benign
8	11845734	C	T	C11845734T	CTSB	NM_001908.5(CTSB):c.849G>A:p.Leu283=	coding	Benign
8	11847773	G	A	G11847773A	CTSB	NM_001908.5(CTSB):c.582C>T:p.Ser194=	coding	Benign
8	11847779	G	A	G11847779A	CTSB	NM_001908.5(CTSB):c.576C>T:p.Asn192=	coding	Benign
8	11849051	C	T	C11849051T	CTSB	NM_001908.5(CTSB):c.441G>A:p.Gly147=	coding	Benign
8	11850921	G	A	G11850921A	CTSB	NM_001908.5(CTSB):c.272C>T:p.Pro91Leu	coding	Benign
8	13090264	C	T	C13090264T	DLC1	NM_182643.3(DLC1):c.4062G>A:p.Leu1354=	coding	Benign
8	13092824	A	G	A13092824G	DLC1	NM_182643.3(DLC1):c.3528T>C:p.Tyr1176=	coding	Benign
8	13098580	G	C	G13098580C	DLC1	NM_182643.3(DLC1):c.2991-5C>G	noncoding	Benign
8	13099462	T	C	T13099462C	DLC1	NM_182643.3(DLC1):c.2875A>G:p.Thr959Ala	coding	Pathogenic
8	13100138	G	A	G13100138A	DLC1	NM_182643.3(DLC1):c.2199C>T:p.Ser733=	coding	Benign
8	13102826	C	T	C13102826T	DLC1	NM_182643.3(DLC1):c.1530G>A:p.Ala510=	coding	Benign
8	13401481	G	A	G13401481A	DLC1	NM_182643.3(DLC1):c.1162C>T:p.Arg388Trp	coding	Benign
8	13499121	C	A	C13499121A	DLC1	NM_182643.3(DLC1):c.951G>T:p.Gln317His	coding	Benign
8	13499146	T	A	T13499146A	DLC1	NM_182643.3(DLC1):c.926A>T:p.Lys309Met	coding	Benign
8	13499822	C	T	C13499822T	DLC1	NM_182643.3(DLC1):c.250G>A:p.Asp84Asn	coding	Benign
8	15540311	C	T	C15540311T	TUSC3	NM_006765.4(TUSC3):c.-120C>T	noncoding	Benign
8	15540517	C	T	C15540517T	TUSC3	NM_006765.4(TUSC3):c.87C>T:p.Leu29=	coding	Benign/Likely_benign
8	15623104	C	T	C15623104T	TUSC3	NM_006765.4(TUSC3):c.163C>T:p.Gln55Ter	coding	Pathogenic
8	15623134	A	G	A15623134G	TUSC3	NM_006765.4(TUSC3):c.193A>G:p.Ile65Val	coding	Benign/Likely_benign
8	15650691	T	C	T15650691C	TUSC3	NM_006765.4(TUSC3):c.309-6T>C	noncoding	Benign
8	15673872	T	G	T15673872G	TUSC3	NM_006765.4(TUSC3):c.798+36T>G	noncoding	Benign
8	15743587	G	A	G15743587A	TUSC3	NM_006765.4(TUSC3):c.912G>A:p.Ser304=	coding	Benign/Likely_benign
8	15764945	C	T	C15764945T	TUSC3	NM_006765.4(TUSC3):c.*789C>T	noncoding	Benign
8	15765010	T	C	T15765010C	TUSC3	NM_006765.4(TUSC3):c.*854T>C	noncoding	Benign
8	15765035	A	T	A15765035T	TUSC3	NM_006765.4(TUSC3):c.*879A>T	noncoding	Benign
8	15765149	T	C	T15765149C	TUSC3	NM_006765.4(TUSC3):c.*993T>C	noncoding	Benign
8	15765349	A	G	A15765349G	TUSC3	NM_006765.4(TUSC3):c.*1193A>G	noncoding	Benign
8	15765444	G	A	G15765444A	TUSC3	NM_006765.4(TUSC3):c.*1288G>A	noncoding	Benign
8	15766100	C	T	C15766100T	TUSC3	NM_006765.4(TUSC3):c.*1944C>T	noncoding	Benign
8	15766208	A	C	A15766208C	TUSC3	NM_006765.4(TUSC3):c.*2052A>C	noncoding	Benign
8	15766612	C	A	C15766612A	TUSC3	NM_006765.4(TUSC3):c.*2456C>A	noncoding	Benign
8	16120446	G	A	G16120446A	MSR1	NM_138715.3(MSR1):c.1194C>T:p.Ala398=	coding	Benign
8	16120512	G	A	G16120512A	MSR1	NM_138715.3(MSR1):c.1128C>T:p.Asp376=	coding	Benign
8	16120602	T	C	T16120602C	MSR1	NM_138715.3(MSR1):c.1038A>G:p.Pro346=	coding	Benign
8	16143548	A	G	A16143548G	MSR1	NM_138715.3(MSR1):c.1033+10T>C	noncoding	Benign
8	16143557	C	G	C16143557G	MSR1	NM_138715.3(MSR1):c.1033+1G>C	noncoding	Pathogenic
8	16143577	C	T	C16143577T	MSR1	NM_138715.3(MSR1):c.1014G>A:p.Lys338=	coding	Benign
8	16164122	G	C	G16164122C	MSR1	NM_138715.3(MSR1):c.760C>G:p.Leu254Val	coding	Pathogenic
8	16168455	T	C	T16168455C	MSR1	NM_138715.3(MSR1):c.630+3A>G	noncoding	Benign
8	16168546	A	T	A16168546T	MSR1	NM_138715.3(MSR1):c.542T>A:p.Ile181Lys	coding	Benign
8	16993092	C	T	C16993092T	FGF20	NM_019851.3(FGF20):c.616G>A:p.Asp206Asn	coding	Benign
8	16995699	C	G	C16995699G	FGF20	NM_019851.3(FGF20):c.346G>C:p.Gly116Arg	coding	Benign
8	17001751	G	T	G17001751T	FGF20	NM_019851.3(FGF20):c.282C>A:p.Leu94=	coding	Benign
8	17246679	G	A	G17246679A	VPS37A	NM_013354.7(CNOT7):c.-100C>T	noncoding	Benign
8	17247226	G	A	G17247226A	VPS37A	NM_152415.3(VPS37A):c.-19G>A	noncoding	Benign/Likely_benign
8	17247268	C	T	C17247268T	VPS37A	NM_152415.3(VPS37A):c.24C>T:p.Thr8=	coding	Benign
8	17247377	G	A	G17247377A	VPS37A	NM_152415.3(VPS37A):c.125+8G>A	noncoding	Benign
8	17266238	A	T	A17266238T	VPS37A	NM_152415.3(VPS37A):c.200+257A>T	noncoding	Benign
8	17266256	A	T	A17266256T	VPS37A	NM_152415.3(VPS37A):c.200+275A>T	noncoding	Benign
8	17268259	T	C	T17268259C	VPS37A	NM_152415.3(VPS37A):c.202T>C:p.Leu68=	coding	Benign
8	17268448	G	C	G17268448C	VPS37A	NM_152415.3(VPS37A):c.315+76G>C	noncoding	Benign
8	17268713	A	G	A17268713G	VPS37A	NM_152415.3(VPS37A):c.316-143A>G	noncoding	Benign
8	17268839	T	C	T17268839C	VPS37A	NM_152415.3(VPS37A):c.316-17T>C	noncoding	Benign
8	17274734	C	T	C17274734T	VPS37A	NM_152415.3(VPS37A):c.418C>T:p.Leu140=	coding	Benign
8	17274932	A	T	A17274932T	VPS37A	NM_152415.3(VPS37A):c.616A>T:p.Ile206Phe	coding	Benign
8	17274953	A	G	A17274953G	VPS37A	NM_152415.3(VPS37A):c.637A>G:p.Ile213Val	coding	Benign
8	17276106	A	G	A17276106G	VPS37A	NM_152415.3(VPS37A):c.643-291A>G	noncoding	Benign
8	17276146	A	G	A17276146G	VPS37A	NM_152415.3(VPS37A):c.643-251A>G	noncoding	Benign
8	17276218	C	G	C17276218G	VPS37A	NM_152415.3(VPS37A):c.643-179C>G	noncoding	Benign
8	17279904	G	A	G17279904A	VPS37A	NM_152415.3(VPS37A):c.714-124G>A	noncoding	Benign
8	17280148	A	G	A17280148G	VPS37A	NM_152415.3(VPS37A):c.834A>G:p.Glu278=	coding	Benign/Likely_benign
8	17280178	G	A	G17280178A	VPS37A	NM_152415.3(VPS37A):c.841+23G>A	noncoding	Benign
8	17284217	G	A	G17284217A	VPS37A	NM_152415.3(VPS37A):c.970-256G>A	noncoding	Benign
8	17284556	C	T	C17284556T	VPS37A	NM_152415.3(VPS37A):c.1053C>T:p.Asp351=	coding	Benign
8	17286379	A	T	A17286379T	VPS37A	NM_152415.3(VPS37A):c.1146A>T:p.Lys382Asn	coding	Pathogenic
8	17286409	A	G	A17286409G	VPS37A	NM_152415.3(VPS37A):c.1176A>G:p.Gln392=	coding	Benign
8	17558317	C	T	C17558317T	SLC7A2	NM_001370338.1(SLC7A2):c.1218C>T:p.Asp406=	coding	Benign
8	17561961	C	T	C17561961T	SLC7A2	NM_001370338.1(SLC7A2):c.1522C>T:p.Leu508=	coding	Benign
8	17563644	G	C	G17563644C	SLC7A2	NM_001370338.1(SLC7A2):c.1713G>C:p.Val571=	coding	Benign
8	17589479	C	T	C17589479T	PDGFRL	NM_006207.2(PDGFRL):c.67C>T:p.His23Tyr	coding	Pathogenic
8	17589618	T	C	T17589618C	PDGFRL	NM_001372073.1(PDGFRL):c.206T>C:p.Met69Thr	coding	Benign
8	17589661	C	A	C17589661A	PDGFRL	NM_001372073.1(PDGFRL):c.249C>A:p.Thr83=	coding	Benign
8	17655975	T	C	T17655975C	MTUS1	NM_001001924.2(MTUS1):c.2996A>G:p.Glu999Gly	coding	Benign
8	17684551	C	T	C17684551T	MTUS1	NM_001001924.2(MTUS1):c.2624-9G>A	noncoding	Benign
8	17754084	T	C	T17754084C	MTUS1	NM_001001924.2(MTUS1):c.1724A>G:p.His575Arg	coding	Benign
8	17754555	A	C	A17754555C	MTUS1	NM_001001924.2(MTUS1):c.1253T>G:p.Met418Arg	coding	Benign
8	17754836	T	A	T17754836A	MTUS1	NM_001001924.2(MTUS1):c.972A>T:p.Ser324=	coding	Benign
8	17755585	G	T	G17755585T	MTUS1	NM_001001924.2(MTUS1):c.223C>A:p.Gln75Lys	coding	Benign
8	17874367	A	G	A17874367G	FGL1	NM_004467.4(FGL1):c.399T>C:p.Phe133=	coding	Benign
8	17882115	C	T	C17882115T	FGL1	NM_004467.4(FGL1):c.128G>A:p.Arg43Gln	coding	Benign
8	17882182	G	C	G17882182C	FGL1	NM_004467.4(FGL1):c.64-3C>G	noncoding	Benign
8	17953081	G	A	G17953081A	PCM1	NM_006197.4(PCM1):c.1183G>A:p.Glu395Lys	coding	Benign
8	17955597	A	C	A17955597C	PCM1	NM_006197.4(PCM1):c.1416A>C:p.Leu472=	coding	Benign
8	17957260	C	G	C17957260G	PCM1	NM_006197.4(PCM1):c.1647-4C>G	noncoding	Benign
8	17957605	G	A	G17957605A	PCM1	NM_006197.4(PCM1):c.1870G>A:p.Glu624Lys	coding	Benign
8	17960417	A	G	A17960417G	PCM1	NM_006197.4(PCM1):c.2295A>G:p.Ala765=	coding	Benign
8	17964628	C	T	C17964628T	PCM1	NM_006197.4(PCM1):c.2715C>T:p.Asp905=	coding	Benign
8	17989909	A	G	A17989909G	PCM1	NM_006197.4(PCM1):c.4461A>G:p.Gln1487=	coding	Benign
8	18011284	G	C	G18011284C	PCM1	NM_006197.4(PCM1):c.5268G>C:p.Val1756=	coding	Benign
8	18011290	T	C	T18011290C	PCM1	NM_006197.4(PCM1):c.5274T>C:p.Asp1758=	coding	Benign
8	18056431	G	A	G18056431A	ASAH1	NM_177924.5(ASAH1):c.*1103C>T	noncoding	Benign
8	18056461	G	A	G18056461A	ASAH1	NM_177924.5(ASAH1):c.*1073C>T	noncoding	Benign
8	18056602	G	A	G18056602A	ASAH1	NM_177924.5(ASAH1):c.*932C>T	noncoding	Benign
8	18056608	T	A	T18056608A	ASAH1	NM_177924.5(ASAH1):c.*926A>T	noncoding	Benign
8	18056608	T	G	T18056608G	ASAH1	NM_177924.5(ASAH1):c.*926A>C	noncoding	Benign
8	18056796	G	C	G18056796C	ASAH1	NM_177924.5(ASAH1):c.*738C>G	noncoding	Benign
8	18056805	A	G	A18056805G	ASAH1	NM_177924.5(ASAH1):c.*729T>C	noncoding	Benign
8	18056839	G	A	G18056839A	ASAH1	NM_177924.5(ASAH1):c.*695C>T	noncoding	Benign
8	18056847	G	C	G18056847C	ASAH1	NM_177924.5(ASAH1):c.*687C>G	noncoding	Benign
8	18057200	C	T	C18057200T	ASAH1	NM_177924.5(ASAH1):c.*334G>A	noncoding	Benign
8	18057290	G	A	G18057290A	ASAH1	NM_177924.5(ASAH1):c.*244C>T	noncoding	Benign
8	18057334	G	A	G18057334A	ASAH1	NM_177924.5(ASAH1):c.*200C>T	noncoding	Benign
8	18057350	A	T	A18057350T	ASAH1	NM_177924.5(ASAH1):c.*184T>A	noncoding	Benign
8	18057374	A	G	A18057374G	ASAH1	NM_177924.5(ASAH1):c.*160T>C	noncoding	Benign
8	18057410	A	T	A18057410T	ASAH1	NM_177924.5(ASAH1):c.*124T>A	noncoding	Benign
8	18057568	A	G	A18057568G	ASAH1	NM_177924.5(ASAH1):c.1154T>C:p.Leu385Pro	coding	Pathogenic/Likely_pathogenic
8	18057617	C	T	C18057617T	ASAH1	NM_177924.5(ASAH1):c.1105G>A:p.Val369Ile	coding	Benign
8	18058715	A	C	A18058715C	ASAH1	NM_177924.5(ASAH1):c.1098+120T>G	noncoding	Benign
8	18058848	G	C	G18058848C	ASAH1	NM_177924.5(ASAH1):c.1085C>G:p.Pro362Arg	coding	Pathogenic
8	18059044	C	T	C18059044T	ASAH1	NM_177924.5(ASAH1):c.1042-153G>A	noncoding	Benign
8	18059424	T	C	T18059424C	ASAH1	NM_177924.5(ASAH1):c.958A>G:p.Asn320Asp	coding	Pathogenic
8	18059466	T	C	T18059466C	ASAH1	NM_177924.5(ASAH1):c.918-2A>G	noncoding	Pathogenic
8	18059568	T	C	T18059568C	ASAH1	NM_177924.5(ASAH1):c.917+4A>G	noncoding	Pathogenic
8	18059603	G	A	G18059603A	ASAH1	NM_177924.5(ASAH1):c.886C>T:p.Arg296Ter	coding	Pathogenic
8	18059639	C	A	C18059639A	ASAH1	NM_177924.5(ASAH1):c.850G>T:p.Gly284Ter	coding	Pathogenic
8	18061402	T	C	T18061402C	ASAH1	NM_177924.5(ASAH1):c.760A>G:p.Arg254Gly	coding	Pathogenic
8	18061425	A	G	A18061425G	ASAH1	NM_177924.5(ASAH1):c.737T>C:p.Val246Ala	coding	Benign
8	18061686	C	G	C18061686G	ASAH1	NM_177924.5(ASAH1):c.703G>C:p.Gly235Arg	coding	Pathogenic
8	18061723	T	C	T18061723C	ASAH1	NM_177924.5(ASAH1):c.666A>G:p.Thr222=	coding	Benign
8	18061724	G	T	G18061724T	ASAH1	NM_177924.5(ASAH1):c.665C>A:p.Thr222Lys	coding	Pathogenic
8	18061748	A	G	A18061748G	ASAH1	NM_177924.5(ASAH1):c.649-8T>C	noncoding	Benign
8	18062383	G	C	G18062383C	ASAH1	NM_177924.5(ASAH1):c.544C>G:p.Leu182Val	coding	Pathogenic
8	18062409	T	A	T18062409A	ASAH1	NM_177924.5(ASAH1):c.518A>T:p.Asn173Ile	coding	Pathogenic
8	18063186	C	A	C18063186A	ASAH1	NM_177924.5(ASAH1):c.502G>T:p.Gly168Trp	coding	Pathogenic
8	18063271	A	G	A18063271G	ASAH1	NM_177924.5(ASAH1):c.458-41T>C	noncoding	Benign
8	18063274	T	C	T18063274C	ASAH1	NM_177924.5(ASAH1):c.458-44A>G	noncoding	Benign
8	18064164	G	T	G18064164T	ASAH1	NM_177924.5(ASAH1):c.457+293C>A	noncoding	Benign
8	18064412	T	C	T18064412C	ASAH1	NM_177924.5(ASAH1):c.457+45A>G	noncoding	Benign
8	18064458	T	G	T18064458G	ASAH1	NM_177924.5(ASAH1):c.456A>C:p.Lys152Asn	coding	Pathogenic/Likely_pathogenic
8	18064504	T	C	T18064504C	ASAH1	NM_177924.5(ASAH1):c.410A>G:p.Tyr137Cys	coding	Pathogenic
8	18067136	G	T	G18067136T	ASAH1	NM_177924.5(ASAH1):c.382+84C>A	noncoding	Benign
8	18067230	A	T	A18067230T	ASAH1	NM_177924.5(ASAH1):c.372T>A:p.Asp124Glu	coding	Benign
8	18067340	C	T	C18067340T	ASAH1	NM_177924.5(ASAH1):c.304-42G>A	noncoding	Benign
8	18069552	G	T	G18069552T	ASAH1	NM_177924.5(ASAH1):c.303+240C>A	noncoding	Benign
8	18069573	T	C	T18069573C	ASAH1	NM_177924.5(ASAH1):c.303+219A>G	noncoding	Benign
8	18069675	A	G	A18069675G	ASAH1	NM_177924.5(ASAH1):c.303+117T>C	noncoding	Benign
8	18069739	A	C	A18069739C	ASAH1	NM_177924.5(ASAH1):c.303+53T>G	noncoding	Benign
8	18069771	G	T	G18069771T	ASAH1	NM_177924.5(ASAH1):c.303+21C>A	noncoding	Benign
8	18069785	C	T	C18069785T	ASAH1	NM_177924.5(ASAH1):c.303+7G>A	noncoding	Benign
8	18069805	A	T	A18069805T	ASAH1	NM_177924.5(ASAH1):c.290T>A:p.Val97Glu	coding	Pathogenic
8	18069818	T	C	T18069818C	ASAH1	NM_177924.5(ASAH1):c.277A>G:p.Ile93Val	coding	Benign
8	18071163	T	C	T18071163C	ASAH1	NM_177924.5(ASAH1):c.216+137A>G	noncoding	Benign
8	18071302	C	T	C18071302T	ASAH1	NM_177924.5(ASAH1):c.214G>A:p.Val72Met	coding	Benign
8	18071369	C	T	C18071369T	ASAH1	NM_177924.5(ASAH1):c.147G>A:p.Trp49Ter	coding	Pathogenic
8	18071411	T	C	T18071411C	ASAH1	NM_177924.5(ASAH1):c.126-21A>G	noncoding	Benign
8	18071490	G	A	G18071490A	ASAH1	NM_177924.5(ASAH1):c.126-100C>T	noncoding	Benign
8	18071605	G	T	G18071605T	ASAH1	NM_177924.5(ASAH1):c.126-215C>A	noncoding	Benign
8	18073096	A	C	A18073096C	ASAH1	NM_177924.5(ASAH1):c.126-1706T>G	noncoding	Benign
8	18073218	G	A	G18073218A	ASAH1	NM_177924.5(ASAH1):c.126-1828C>T	noncoding	Benign
8	18073225	C	A	C18073225A	ASAH1	NM_177924.5(ASAH1):c.126-1835G>T	noncoding	Benign
8	18073263	C	T	C18073263T	ASAH1	NM_177924.5(ASAH1):c.126-1873G>A	coding	Benign
8	18073490	A	G	A18073490G	ASAH1	NM_177924.5(ASAH1):c.125+2051T>C	noncoding	Benign
8	18073582	C	T	C18073582T	ASAH1	NM_177924.5(ASAH1):c.125+1959G>A	noncoding	Benign
8	18075540	C	T	C18075540T	ASAH1	NM_177924.5(ASAH1):c.125+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	18075541	G	A	G18075541A	ASAH1	NM_177924.5(ASAH1):c.125C>T:p.Thr42Met	coding	Pathogenic/Likely_pathogenic
8	18075590	G	A	G18075590A	ASAH1	NM_177924.5(ASAH1):c.79-3C>T	noncoding	Benign
8	18075637	C	T	C18075637T	ASAH1	NM_177924.5(ASAH1):c.79-50G>A	noncoding	Benign
8	18083982	G	C	G18083982C	ASAH1	NM_177924.5(ASAH1):c.77C>G:p.Pro26Arg	coding	Pathogenic
8	18084695	C	T	C18084695T	ASAH1	NM_004315.6(ASAH1):c.107G>A:p.Ser36Asn	coding	Benign
8	18084823	A	G	A18084823G	ASAH1	NM_004315.6(ASAH1):c.-22T>C	noncoding	Benign
8	18222237	C	T	C18222237T	NAT1	NM_000662.8(NAT1):c.190C>T:p.Arg64Trp	coding	Benign
8	18222492	G	A	G18222492A	NAT1	NM_001160179.2(NAT1):c.445G>A:p.Val149Ile	coding	Benign
8	18400612	G	T	G18400612T	NAT2	NM_000015.3(NAT2):c.609G>T:p.Glu203Asp	coding	Benign
8	18400841	G	A	G18400841A	NAT2	NM_000015.3(NAT2):c.838G>A:p.Val280Met	coding	Benign
8	18556275	G	A	G18556275A	PSD3	NM_015310.4(PSD3):c.2862C>T:p.Pro954=	coding	Benign
8	18801368	G	T	G18801368T	PSD3	NM_015310.4(PSD3):c.1925C>A:p.Ala642Glu	coding	Benign
8	18804889	C	T	C18804889T	PSD3	NM_015310.4(PSD3):c.1644G>A:p.Gly548=	coding	Benign
8	18867714	T	G	T18867714G	PSD3	NM_015310.4(PSD3):c.1594A>C:p.Ile532Leu	coding	Benign
8	18868047	C	A	C18868047A	PSD3	NM_015310.4(PSD3):c.1261G>T:p.Val421Phe	coding	Benign
8	18871717	G	A	G18871717A	PSD3	NM_015310.4(PSD3):c.1147C>T:p.Arg383Cys	coding	Benign
8	18871818	C	A	C18871818A	PSD3	NM_015310.4(PSD3):c.1046G>T:p.Gly349Val	coding	Benign
8	18872192	G	C	G18872192C	PSD3	NM_015310.4(PSD3):c.672C>G:p.Asp224Glu	coding	Benign
8	18872423	G	A	G18872423A	PSD3	NM_015310.4(PSD3):c.441C>T:p.Ser147=	coding	Benign
8	18872445	G	A	G18872445A	PSD3	NM_015310.4(PSD3):c.419C>T:p.Ala140Val	coding	Benign
8	19408628	C	A	C19408628A	CSGALNACT1	NM_018371.4(CSGALNACT1):c.1294G>T:p.Asp432Tyr	coding	Pathogenic
8	19418732	G	C	G19418732C	CSGALNACT1	NM_018371.4(CSGALNACT1):c.1151C>G:p.Pro384Arg	coding	Pathogenic
8	19505518	A	G	A19505518G	CSGALNACT1	NM_001130518.1(CSGALNACT1):c.317T>C:p.Leu106Pro	coding	Benign
8	19939160	T	G	T19939160G	LPL	NM_000237.3(LPL):c.-281T>G	noncoding	Benign
8	19939481	G	A	G19939481A	LPL	NM_000237.3(LPL):c.41G>A:p.Trp14Ter	coding	Pathogenic
8	19939529	G	C	G19939529C	LPL	NM_000237.3(LPL):c.88+1G>C	coding	Pathogenic
8	19948341	G	A	G19948341A	LPL	NM_000237.3(LPL):c.249+1G>A	coding	Pathogenic
8	19951768	G	A	G19951768A	LPL	NM_000237.3(LPL):c.250-1G>A	noncoding	Pathogenic
8	19951783	T	A	T19951783A	LPL	NM_000237.3(LPL):c.264T>A:p.Tyr88Ter	coding	Pathogenic
8	19951791	G	A	G19951791A	LPL	NM_000237.3(LPL):c.272G>A:p.Trp91Ter	coding	Pathogenic
8	19951795	G	A	G19951795A	LPL	NM_000237.3(LPL):c.276G>A:p.Val92=	coding	Benign
8	19951819	C	A	C19951819A	LPL	NM_000237.3(LPL):c.300C>A:p.Tyr100Ter	coding	Pathogenic
8	19951825	A	C	A19951825C	LPL	NM_000237.3(LPL):c.306A>C:p.Arg102Ser	coding	Pathogenic
8	19951856	T	C	T19951856C	LPL	NM_000237.3(LPL):c.337T>C:p.Trp113Arg	coding	Pathogenic
8	19951916	C	T	C19951916T	LPL	NM_000237.3(LPL):c.397C>T:p.Gln133Ter	coding	Pathogenic
8	19951924	G	A	G19951924A	LPL	NM_000237.3(LPL):c.405G>A:p.Val135=	coding	Benign
8	19951968	A	C	A19951968C	LPL	NM_000237.3(LPL):c.429+20A>C	noncoding	Benign
8	19953304	C	T	C19953304T	LPL	NM_000237.3(LPL):c.430-6C>T	noncoding	Benign/Likely_benign
8	19953315	G	A	G19953315A	LPL	NM_000237.3(LPL):c.435G>A:p.Glu145=	coding	Benign
8	19953336	T	C	T19953336C	LPL	NM_000237.3(LPL):c.456T>C:p.Asn152=	coding	Benign/Likely_benign
8	19953386	G	A	G19953386A	LPL	NM_000237.3(LPL):c.506G>A:p.Gly169Glu	coding	Pathogenic
8	19954112	C	T	C19954112T	LPL	NM_000237.3(LPL):c.542-8C>T	noncoding	Benign
8	19954126	A	G	A19954126G	LPL	NM_000237.3(LPL):c.548A>G:p.Asp183Gly	coding	Pathogenic
8	19954168	G	A	G19954168A	LPL	NM_000237.3(LPL):c.590G>A:p.Arg197His	coding	Pathogenic
8	19954174	C	G	C19954174G	LPL	NM_000237.3(LPL):c.596C>G:p.Ser199Cys	coding	Pathogenic
8	19954185	G	A	G19954185A	LPL	NM_000237.3(LPL):c.607G>A:p.Ala203Thr	coding	Pathogenic
8	19954199	C	G	C19954199G	LPL	NM_000237.3(LPL):c.621C>G:p.Asp207Glu	coding	Pathogenic
8	19954218	A	T	A19954218T	LPL	NM_000237.3(LPL):c.640A>T:p.Arg214Ter	coding	Pathogenic
8	19954222	G	A	G19954222A	LPL	NM_000237.3(LPL):c.644G>A:p.Gly215Glu	coding	Pathogenic
8	19954240	T	C	T19954240C	LPL	NM_000237.3(LPL):c.662T>C:p.Ile221Thr	coding	Pathogenic
8	19954243	G	A	G19954243A	LPL	NM_000237.3(LPL):c.665G>A:p.Gly222Glu	coding	Pathogenic
8	19954256	A	G	A19954256G	LPL	NM_000237.3(LPL):c.678A>G:p.Pro226=	coding	Benign
8	19954271	C	G	C19954271G	LPL	NM_000237.3(LPL):c.693C>G:p.Asp231Glu	coding	Pathogenic
8	19954279	C	T	C19954279T	LPL	NM_000237.3(LPL):c.701C>T:p.Pro234Leu	coding	Pathogenic
8	19954333	T	C	T19954333C	LPL	NM_000237.3(LPL):c.755T>C:p.Ile252Thr	coding	Pathogenic
8	19955849	C	T	C19955849T	LPL	NM_000237.3(LPL):c.784C>T:p.Gln262Ter	coding	Pathogenic/Likely_pathogenic
8	19955863	C	G	C19955863G	LPL	NM_000237.3(LPL):c.798C>G:p.Cys266Trp	coding	Pathogenic
8	19955873	C	T	C19955873T	LPL	NM_000237.3(LPL):c.808C>T:p.Arg270Cys	coding	Pathogenic
8	19955874	G	A	G19955874A	LPL	NM_000237.3(LPL):c.809G>A:p.Arg270His	coding	Pathogenic
8	19955876	T	A	T19955876A	LPL	NM_000237.3(LPL):c.811T>A:p.Ser271Thr	coding	Pathogenic
8	19955894	G	A	G19955894A	LPL	NM_000237.3(LPL):c.829G>A:p.Asp277Asn	coding	Pathogenic
8	19955900	C	G	C19955900G	LPL	NM_000237.3(LPL):c.835C>G:p.Leu279Val	coding	Pathogenic
8	19955901	T	G	T19955901G	LPL	NM_000237.3(LPL):c.836T>G:p.Leu279Arg	coding	Pathogenic
8	19955994	G	A	G19955994A	LPL	NM_000237.3(LPL):c.929G>A:p.Cys310Tyr	coding	Pathogenic
8	19956052	C	A	C19956052A	LPL	NM_000237.3(LPL):c.987C>A:p.Tyr329Ter	coding	Pathogenic
8	19956099	T	C	T19956099C	LPL	NM_000237.3(LPL):c.1018+16T>C	noncoding	Benign
8	19959322	G	A	G19959322A	LPL	NM_000237.3(LPL):c.1081G>A:p.Ala361Thr	coding	Pathogenic
8	19959369	C	T	C19959369T	LPL	NM_000237.3(LPL):c.1128C>T:p.Ile376=	coding	Benign
8	19959376	A	G	A19959376G	LPL	NM_000237.3(LPL):c.1135A>G:p.Thr379Ala	coding	Benign/Likely_benign
8	19960925	C	A	C19960925A	LPL	NM_000237.3(LPL):c.1164C>A:p.Thr388=	coding	Benign
8	19960935	C	G	C19960935G	LPL	NM_000237.3(LPL):c.1174C>G:p.Leu392Val	coding	Pathogenic
8	19960988	G	A	G19960988A	LPL	NM_000237.3(LPL):c.1227G>A:p.Trp409Ter	coding	Pathogenic
8	19961040	G	A	G19961040A	LPL	NM_000237.3(LPL):c.1279G>A:p.Ala427Thr	coding	Benign/Likely_benign
8	19962126	G	A	G19962126A	LPL	NM_000237.3(LPL):c.1334G>A:p.Cys445Tyr	coding	Pathogenic
8	19962213	C	A	C19962213A	LPL	NM_000237.3(LPL):c.1421C>A:p.Ser474Ter	coding	Benign
8	19962213	C	G	C19962213G	LPL	NM_000237.3(LPL):c.1421C>G:p.Ser474Ter	coding	Benign
8	19965319	G	A	G19965319A	LPL	NM_000237.3(LPL):c.*9G>A	noncoding	Benign
8	19965339	G	A	G19965339A	LPL	NM_000237.3(LPL):c.*29G>A	noncoding	Benign
8	19965681	T	C	T19965681C	LPL	NM_000237.3(LPL):c.*371T>C	noncoding	Benign
8	19966106	A	G	A19966106G	LPL	NM_000237.3(LPL):c.*796A>G	noncoding	Benign
8	19966137	A	T	A19966137T	LPL	NM_000237.3(LPL):c.*827A>T	noncoding	Benign
8	19966163	C	T	C19966163T	LPL	NM_000237.3(LPL):c.*853C>T	noncoding	Benign
8	19966259	G	A	G19966259A	LPL	NM_000237.3(LPL):c.*949G>A	noncoding	Benign
8	19966452	C	T	C19966452T	LPL	NM_000237.3(LPL):c.*1142C>T	noncoding	Benign
8	19966534	C	A	C19966534A	LPL	NM_000237.3(LPL):c.*1224C>A	noncoding	Benign
8	19966560	A	G	A19966560G	LPL	NM_000237.3(LPL):c.*1250A>G	noncoding	Benign
8	19966601	G	A	G19966601A	LPL	NM_000237.3(LPL):c.*1291G>A	noncoding	Benign
8	19966726	T	C	T19966726C	LPL	NM_000237.3(LPL):c.*1416T>C	noncoding	Benign
8	19966981	T	C	T19966981C	LPL	NM_000237.3(LPL):c.*1671T>C	noncoding	Benign
8	19967052	T	C	T19967052C	LPL	NM_000237.3(LPL):c.*1742T>C	noncoding	Benign
8	19967093	A	T	A19967093T	LPL	NM_000237.3(LPL):c.*1783A>T	noncoding	Benign
8	19967156	C	T	C19967156T	LPL	NM_000237.3(LPL):c.*1846C>T	noncoding	Benign
8	19967158	C	A	C19967158A	LPL	NM_000237.3(LPL):c.*1848C>A	noncoding	Benign
8	19967238	T	C	T19967238C	LPL	NM_000237.3(LPL):c.*1928T>C	noncoding	Benign
8	20197417	G	A	G20197417A	ATP6V1B2	NM_001693.4(ATP6V1B2):c.11G>A:p.Arg4Gln	coding	Benign
8	20197446	G	T	G20197446T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.40G>T:p.Ala14Ser	coding	Benign
8	20204546	C	G	C20204546G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.192+7C>G	noncoding	Benign
8	20211172	A	G	A20211172G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.464-5A>G	noncoding	Benign
8	20212128	C	T	C20212128T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.732C>T:p.Phe244=	coding	Benign
8	20214931	G	A	G20214931A	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1041G>A:p.Ser347=	coding	Benign
8	20216465	C	A	C20216465A	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1131C>A:p.Ile377=	coding	Benign
8	20217252	A	G	A20217252G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1194A>G:p.Leu398=	coding	Benign
8	20220320	G	C	G20220320C	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1454G>C:p.Arg485Pro	coding	Pathogenic
8	20220331	A	T	A20220331T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1465A>T:p.Lys489Ter	coding	Pathogenic
8	20220382	C	T	C20220382T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1516C>T:p.Arg506Ter	coding	Pathogenic
8	20250305	G	A	G20250305A	LZTS1	NM_021020.5(LZTS1):c.1208C>T:p.Thr403Met	coding	Benign
8	20253576	T	C	T20253576C	LZTS1	NM_021020.5(LZTS1):c.355A>G:p.Lys119Glu	coding	Pathogenic
8	20254844	A	G	A20254844G	LZTS1	NM_021020.5(LZTS1):c.338T>C:p.Leu113Pro	coding	Benign
8	20255097	A	G	A20255097G	LZTS1	NM_021020.5(LZTS1):c.85T>C:p.Ser29Pro	coding	Pathogenic
8	21693326	C	T	C21693326T	GFRA2	NM_001495.5(GFRA2):c.1347G>A:p.Ser449=	coding	Benign
8	21693346	G	A	G21693346A	GFRA2	NM_001495.5(GFRA2):c.1327C>T:p.Pro443Ser	coding	Benign
8	21909370	A	C	A21909370C	DOK2	NM_003974.4(DOK2):c.1180T>G:p.Ser394Ala	coding	Benign
8	21970193	C	T	C21970193T	XPO7	NM_015024.5(XPO7):c.309C>T:p.Phe103=	coding	Benign
8	22034113	A	C	A22034113C	NPM2	NM_001286680.2(NPM2):c.369A>C:p.Ala123=	coding	Benign
8	22043188	G	A	G22043188A	FGF17	NM_003867.4(FGF17):c.72+7G>A	noncoding	Benign
8	22046200	C	T	C22046200T	FGF17	NM_003867.4(FGF17):c.159C>T:p.Arg53=	coding	Benign
8	22048128	G	A	G22048128A	FGF17	NM_003867.4(FGF17):c.530G>A:p.Arg177His	coding	Pathogenic
8	22048158	A	G	A22048158G	FGF17	NM_003867.4(FGF17):c.560A>G:p.Asn187Ser	coding	Pathogenic
8	22048195	C	T	C22048195T	FGF17	NM_003867.4(FGF17):c.597C>T:p.Gly199=	coding	Benign
8	22114769	A	G	A22114769G	HR	NM_005144.4(HR):c.*931T>C	noncoding	Benign
8	22114880	C	G	C22114880G	HR	NM_005144.4(HR):c.*820G>C	noncoding	Benign
8	22114944	C	A	C22114944A	HR	NM_005144.5(HR):c.*756G>T	noncoding	Benign
8	22115101	A	C	A22115101C	HR	NM_005144.5(HR):c.*599T>G	noncoding	Benign
8	22115460	G	T	G22115460T	HR	NM_005144.4(HR):c.*240C>A	noncoding	Benign
8	22115482	A	G	A22115482G	HR	NM_005144.4(HR):c.*218T>C	noncoding	Benign
8	22115619	G	A	G22115619A	HR	NM_005144.4(HR):c.*81C>T	noncoding	Benign
8	22115744	G	A	G22115744A	HR	NM_005144.4(HR):c.3526C>T:p.Gln1176Ter	coding	Pathogenic
8	22116337	G	C	G22116337C	HR	NM_005144.4(HR):c.3470C>G:p.Pro1157Arg	coding	Benign/Likely_benign
8	22116400	A	T	A22116400T	HR	NM_005144.4(HR):c.3407T>A:p.Val1136Asp	coding	Pathogenic
8	22116914	G	T	G22116914T	HR	NM_005144.4(HR):c.3339C>A:p.Pro1113=	coding	Benign
8	22117000	G	C	G22117000C	HR	NM_005144.5(HR):c.3253C>G:p.Pro1085Ala	coding	Benign
8	22117037	C	T	C22117037T	HR	NM_005144.5(HR):c.3216G>A:p.Val1072=	coding	Benign
8	22118940	G	A	G22118940A	HR	NM_005144.4(HR):c.3213+10C>T	noncoding	Benign
8	22118971	G	A	G22118971A	HR	NM_005144.4(HR):c.3192C>T:p.Arg1064=	coding	Benign
8	22119197	T	C	T22119197C	HR	NM_005144.4(HR):c.3064A>G:p.Thr1022Ala	coding	Benign
8	22119227	C	T	C22119227T	HR	NM_005144.4(HR):c.3034G>A:p.Asp1012Asn	coding	Pathogenic
8	22120341	C	T	C22120341T	HR	NM_005144.4(HR):c.2776+1G>A	noncoding	Pathogenic
8	22120385	G	T	G22120385T	HR	NM_005144.4(HR):c.2733C>A:p.Ser911Arg	coding	Benign
8	22120501	A	G	A22120501G	HR	NM_005144.4(HR):c.2617T>C:p.Leu873=	coding	Benign
8	22120756	C	T	C22120756T	HR	NM_005144.4(HR):c.2570G>A:p.Arg857His	coding	Benign
8	22120800	T	G	T22120800G	HR	NM_005144.4(HR):c.2526A>C:p.Pro842=	coding	Benign
8	22120859	C	T	C22120859T	HR	NM_005144.4(HR):c.2467G>A:p.Gly823Ser	coding	Benign
8	22120956	A	G	A22120956G	HR	NM_005144.4(HR):c.2370T>C:p.Asp790=	coding	Benign
8	22121065	A	G	A22121065G	HR	NM_005144.4(HR):c.2367T>C:p.Ser789=	coding	Benign
8	22121221	G	A	G22121221A	HR	NM_005144.4(HR):c.2211C>T:p.Pro737=	coding	Benign
8	22122510	C	A	C22122510A	HR	NM_005144.4(HR):c.2104G>T:p.Gly702Trp	coding	Benign
8	22122839	G	A	G22122839A	HR	NM_005144.5(HR):c.1956C>T:p.Ala652=	coding	Benign
8	22123657	T	C	T22123657C	HR	NM_005144.4(HR):c.1907A>G:p.Glu636Gly	coding	Benign
8	22123706	G	C	G22123706C	HR	NM_005144.4(HR):c.1858C>G:p.Arg620Gly	coding	Benign
8	22123727	G	A	G22123727A	HR	NM_005144.4(HR):c.1837C>T:p.Arg613Ter	coding	Pathogenic
8	22125334	G	A	G22125334A	HR	NM_005144.5(HR):c.1727C>T:p.Ala576Val	coding	Benign
8	22125478	T	C	T22125478C	HR	NM_005144.4(HR):c.1583A>G:p.Gln528Arg	coding	Benign
8	22125484	A	G	A22125484G	HR	NM_005144.4(HR):c.1577T>C:p.Leu526Pro	coding	Benign
8	22125489	C	T	C22125489T	HR	NM_005144.4(HR):c.1572G>A:p.Gly524=	coding	Benign
8	22125631	C	T	C22125631T	HR	NM_005144.4(HR):c.1507G>A:p.Ala503Thr	coding	Benign
8	22125677	G	A	G22125677A	HR	NM_005144.4(HR):c.1461C>T:p.Cys487=	coding	Benign
8	22127062	G	A	G22127062A	HR	NM_005144.5(HR):c.1380C>T:p.Asp460=	coding	Benign
8	22127083	C	T	C22127083T	HR	NM_005144.5(HR):c.1359G>A:p.Ser453=	coding	Benign
8	22127137	A	G	A22127137G	HR	NM_005144.4(HR):c.1305T>C:p.Phe435=	coding	Benign
8	22127252	C	T	C22127252T	HR	NM_005144.4(HR):c.1190G>A:p.Cys397Tyr	coding	Benign
8	22127387	G	A	G22127387A	HR	NM_005144.4(HR):c.1055C>T:p.Ala352Val	coding	Benign
8	22127432	C	T	C22127432T	HR	NM_005144.4(HR):c.1010G>A:p.Gly337Asp	coding	Benign
8	22127486	G	A	G22127486A	HR	NM_005144.4(HR):c.956C>T:p.Pro319Leu	coding	Benign
8	22128838	G	A	G22128838A	HR	NM_005144.4(HR):c.333C>T:p.Cys111=	coding	Benign/Likely_benign
8	22128966	G	A	G22128966A	HR	NM_005144.4(HR):c.205C>T:p.Pro69Ser	coding	Benign
8	22128983	G	C	G22128983C	HR	NM_005144.4(HR):c.188C>G:p.Pro63Arg	coding	Benign
8	22129144	C	T	C22129144T	HR	NM_005144.4(HR):c.27G>A:p.Lys9=	coding	Benign
8	22130605	T	C	T22130605C	HR	NM_005144.4(HR):c.-218A>G	noncoding	Pathogenic
8	22130636	G	C	G22130636C	HR	NM_005144.4(HR):c.-249C>G	noncoding	Pathogenic
8	22130702	G	A	G22130702A	HR	NM_005144.4(HR):c.-315C>T	noncoding	Pathogenic
8	22130706	C	T	C22130706T	HR	NM_005144.5(HR):c.-319G>A	noncoding	Pathogenic
8	22130707	A	G	A22130707G	HR	NM_005144.4(HR):c.-320T>C	noncoding	Pathogenic
8	22130720	A	G	A22130720G	HR	NM_005144.4(HR):c.-333T>C	noncoding	Benign
8	22131002	A	C	A22131002C	HR	NM_005144.4(HR):c.-615T>G	noncoding	Benign
8	22148657	C	T	C22148657T	LGI3	NM_139278.4(LGI3):c.1150G>A:p.Gly384Ser	coding	Benign
8	22161695	G	C	G22161695C	BMP1;SFTPC	NM_001385654.1(SFTPC):c.-53-81G>C	noncoding	Benign/Likely_benign
8	22161737	C	G	C22161737G	SFTPC	NM_001385654.1(SFTPC):c.-53-39C>G	noncoding	Benign
8	22161738	C	T	C22161738T	SFTPC	NM_001385654.1(SFTPC):c.-53-38C>T	noncoding	Benign
8	22161852	C	G	C22161852G	SFTPC	NM_001317778.2(SFTPC):c.24C>G:p.Val8=	coding	Benign/Likely_benign
8	22162567	G	A	G22162567A	SFTPC	NM_001317778.2(SFTPC):c.43-7G>A	noncoding	Benign/Likely_benign
8	22162599	G	A	G22162599A	SFTPC	NM_001317778.2(SFTPC):c.68G>A:p.Arg23Gln	coding	Benign
8	22162727	G	A	G22162727A	SFTPC	NM_003018.4(SFTPC):c.196G>A:p.Glu66Lys	coding	Pathogenic
8	22162746	G	A	G22162746A	BMP1;SFTPC	NM_001317778.2(SFTPC):c.201+14G>A	noncoding	Benign/Likely_benign
8	22163096	T	C	T22163096C	SFTPC	NM_001317778.2(SFTPC):c.218T>C:p.Ile73Thr	coding	Pathogenic
8	22163106	G	A	G22163106A	SFTPC	NM_001317778.2(SFTPC):c.228G>A:p.Pro76=	coding	Benign
8	22163106	G	C	G22163106C	SFTPC	NM_001317778.2(SFTPC):c.228G>C:p.Pro76=	coding	Benign
8	22163166	C	T	C22163166T	SFTPC	NM_001317778.2(SFTPC):c.288C>T:p.Ile96=	coding	Benign/Likely_benign
8	22163181	C	T	C22163181T	SFTPC	NM_001317778.2(SFTPC):c.303C>T:p.Leu101=	coding	Benign
8	22163458	C	A	C22163458A	SFTPC	NM_003018.4(SFTPC):c.347C>A:p.Ala116Asp	coding	Pathogenic
8	22163462	T	G	T22163462G	SFTPC	NM_001317778.2(SFTPC):c.351T>G:p.Pro117=	coding	Benign
8	22163524	C	A	C22163524A	BMP1;SFTPC	NM_001317778.2(SFTPC):c.413C>A:p.Thr138Asn	coding	Benign/Likely_benign
8	22163547	G	T	G22163547T	SFTPC	NM_003018.4(SFTPC):c.435+1G>T	coding	Pathogenic
8	22163875	C	G	C22163875G	BMP1;SFTPC	NM_001317778.2(SFTPC):c.436-26C>G	noncoding	Benign
8	22164004	G	A	G22164004A	BMP1;SFTPC	NM_001317778.2(SFTPC):c.539G>A:p.Ser180Asn	coding	Benign
8	22164010	T	A	T22164010A	SFTPC	NM_003018.4(SFTPC):c.563T>A:p.Leu188Gln	coding	Pathogenic
8	22164017	C	T	C22164017T	SFTPC	NM_001317778.2(SFTPC):c.552C>T:p.Gly184=	coding	Benign
8	22164028	T	C	T22164028C	SFTPC	NM_003018.4(SFTPC):c.581T>C:p.Leu194Pro	coding	Pathogenic
8	22164053	T	A	T22164053A	SFTPC	NM_001317778.2(SFTPC):c.*12T>A	noncoding	Benign/Likely_benign
8	22164071	G	A	G22164071A	SFTPC	NM_001317778.2(SFTPC):c.18+12G>A	noncoding	Benign
8	22164072	G	A	G22164072A	SFTPC	NM_001317778.2(SFTPC):c.18+13G>A	noncoding	Benign
8	22164283	A	G	A22164283G	BMP1;SFTPC	NM_001317778.2(SFTPC):c.*36A>G	noncoding	Benign/Likely_benign
8	22164370	G	A	G22164370A	BMP1;SFTPC	NM_001317778.2(SFTPC):c.*123G>A	noncoding	Benign
8	22164420	C	T	C22164420T	BMP1;SFTPC	NM_001317778.2(SFTPC):c.*173C>T	noncoding	Benign/Likely_benign
8	22164421	G	A	G22164421A	BMP1;SFTPC	NM_001317778.2(SFTPC):c.*174G>A	noncoding	Benign
8	22165236	A	G	A22165236G	BMP1;SFTPC	NM_006129.4(BMP1):c.-170A>G	noncoding	Benign
8	22165391	C	G	C22165391G	BMP1;SFTPC	NM_006129.5(BMP1):c.-15C>G	noncoding	Benign/Likely_benign
8	22165439	G	C	G22165439C	BMP1	NM_006129.5(BMP1):c.34G>C:p.Gly12Arg	coding	Pathogenic
8	22176529	G	A	G22176529A	BMP1	NM_006129.5(BMP1):c.434-4G>A	noncoding	Benign
8	22177868	C	G	C22177868G	BMP1	NM_006129.5(BMP1):c.747C>G:p.Phe249Leu	coding	Pathogenic
8	22177929	A	G	A22177929G	BMP1	NM_006129.5(BMP1):c.808A>G:p.Met270Val	coding	Pathogenic
8	22179747	C	T	C22179747T	BMP1	NM_006129.5(BMP1):c.879C>T:p.Asn293=	coding	Benign
8	22180196	A	G	A22180196G	BMP1	NM_006129.5(BMP1):c.962-172A>G	noncoding	Benign
8	22180631	G	C	G22180631C	BMP1	NM_006129.5(BMP1):c.1077+148G>C	noncoding	Benign
8	22192083	G	A	G22192083A	BMP1	NM_006129.5(BMP1):c.1112G>A:p.Arg371His	coding	Benign/Likely_benign
8	22192141	G	T	G22192141T	BMP1	NM_006129.5(BMP1):c.1170G>T:p.Ala390=	coding	Benign
8	22192156	C	T	C22192156T	BMP1	NM_006129.5(BMP1):c.1180+5C>T	noncoding	Benign
8	22192267	A	G	A22192267G	BMP1	NM_006129.5(BMP1):c.1180+116A>G	noncoding	Benign
8	22192327	A	T	A22192327T	BMP1	NM_006129.5(BMP1):c.1180+176A>T	noncoding	Benign
8	22192379	A	G	A22192379G	BMP1	NM_006129.5(BMP1):c.1180+228A>G	noncoding	Benign
8	22193733	A	G	A22193733G	BMP1	NM_006129.5(BMP1):c.1181-325A>G	noncoding	Benign
8	22194174	G	T	G22194174T	BMP1	NM_006129.5(BMP1):c.1297G>T:p.Ala433Ser	coding	Pathogenic
8	22194188	C	T	C22194188T	BMP1	NM_006129.5(BMP1):c.1297+14C>T	noncoding	Benign
8	22195610	T	C	T22195610C	BMP1	NM_006129.5(BMP1):c.1765+23T>C	noncoding	Benign
8	22196675	C	T	C22196675T	BMP1	NM_006129.5(BMP1):c.1766-5C>T	noncoding	Benign
8	22196684	T	C	T22196684C	BMP1	NM_006129.5(BMP1):c.1770T>C:p.Ala590=	coding	Benign
8	22197420	G	C	G22197420C	BMP1	NM_006129.5(BMP1):c.2107G>C:p.Asp703His	coding	Pathogenic
8	22201444	T	C	T22201444C	BMP1	NM_006129.5(BMP1):c.2108-359T>C	coding	Pathogenic
8	22201810	C	T	C22201810T	BMP1	NM_006129.5(BMP1):c.2115C>T:p.Asp705=	coding	Benign
8	22201849	C	T	C22201849T	BMP1	NM_006129.5(BMP1):c.2154C>T:p.Cys718=	coding	Benign/Likely_benign
8	22201850	G	A	G22201850A	BMP1	NM_006129.5(BMP1):c.2155G>A:p.Val719Ile	coding	Benign
8	22201900	C	G	C22201900G	BMP1	NM_006129.5(BMP1):c.2205C>G:p.Leu735=	coding	Benign
8	22202007	A	G	A22202007G	BMP1	NM_006129.5(BMP1):c.2233+79A>G	noncoding	Benign
8	22202093	G	A	G22202093A	BMP1	NM_006129.5(BMP1):c.2233+165G>A	noncoding	Benign
8	22206834	C	T	C22206834T	BMP1	NM_006129.5(BMP1):c.2234-20C>T	noncoding	Benign/Likely_benign
8	22207391	T	C	T22207391C	BMP1	NM_006129.5(BMP1):c.2450T>C:p.Val817Ala	coding	Benign
8	22207530	T	C	T22207530C	BMP1	NM_006129.5(BMP1):c.2575+14T>C	noncoding	Benign
8	22207666	A	G	A22207666G	BMP1	NM_006129.5(BMP1):c.2575+150A>G	noncoding	Benign
8	22209294	G	A	G22209294A	BMP1	NM_006129.5(BMP1):c.2576-151G>A	noncoding	Benign
8	22209342	C	T	C22209342T	BMP1	NM_006129.5(BMP1):c.2576-103C>T	noncoding	Benign
8	22209428	C	A	C22209428A	BMP1	NM_006129.5(BMP1):c.2576-17C>A	noncoding	Benign
8	22209509	C	A	C22209509A	BMP1	NM_006129.5(BMP1):c.2640C>A:p.Gly880=	coding	Benign
8	22209557	C	T	C22209557T	BMP1	NM_006129.5(BMP1):c.2688C>T:p.Ala896=	coding	Benign
8	22211505	C	T	C22211505T	BMP1	NM_006129.5(BMP1):c.2827-89C>T	noncoding	Benign
8	22211750	G	A	G22211750A	BMP1	NM_006129.5(BMP1):c.*22G>A	noncoding	Benign
8	22404734	G	A	G22404734A	SLC39A14	NM_001128431.4(SLC39A14):c.24G>A:p.Pro8=	coding	Benign
8	22408305	T	C	T22408305C	SLC39A14	NM_001128431.4(SLC39A14):c.271-5T>C	noncoding	Benign
8	22408331	T	G	T22408331G	SLC39A14	NM_001128431.4(SLC39A14):c.292T>G:p.Phe98Val	coding	Pathogenic
8	22408352	G	T	G22408352T	SLC39A14	NM_001128431.4(SLC39A14):c.313G>T:p.Glu105Ter	coding	Pathogenic
8	22408406	C	T	C22408406T	SLC39A14	NM_001128431.4(SLC39A14):c.367C>T:p.Gln123Ter	coding	Pathogenic
8	22410000	G	A	G22410000A	SLC39A14	NM_001128431.4(SLC39A14):c.457+1504G>A	coding	Pathogenic
8	22414848	T	C	T22414848C	SLC39A14	NM_001128431.4(SLC39A14):c.696T>C:p.Tyr232=	coding	Benign
8	22415765	C	A	C22415765A	SLC39A14	NM_001128431.4(SLC39A14):c.751-4C>A	noncoding	Benign
8	22416132	C	T	C22416132T	SLC39A14	NM_001128431.4(SLC39A14):c.999C>T:p.Ile333=	coding	Benign
8	22416165	C	T	C22416165T	SLC39A14	NM_001128431.4(SLC39A14):c.1032C>T:p.Asp344=	coding	Benign
8	22416280	G	A	G22416280A	SLC39A14	NM_001128431.4(SLC39A14):c.1147G>A:p.Gly383Arg	coding	Pathogenic
8	22417641	G	A	G22417641A	SLC39A14	NM_001128431.4(SLC39A14):c.1148-10G>A	noncoding	Benign
8	22417642	C	T	C22417642T	SLC39A14	NM_001128431.4(SLC39A14):c.1148-9C>T	noncoding	Benign
8	22417825	T	G	T22417825G	SLC39A14	NM_001128431.4(SLC39A14):c.1322T>G:p.Leu441Arg	coding	Pathogenic
8	22419626	C	G	C22419626G	SLC39A14	NM_001128431.4(SLC39A14):c.1407C>G:p.Asn469Lys	coding	Pathogenic
8	22531335	G	A	G22531335A	PPP3CC	NM_001243974.1(PPP3CC):c.1168+7G>A	noncoding	Benign
8	22561342	G	T	G22561342T	SORBS3	NM_005775.5(SORBS3):c.486G>T:p.Gln162His	coding	Benign
8	22564312	T	C	T22564312C	SORBS3	NM_005775.5(SORBS3):c.705T>C:p.Asn235=	coding	Benign
8	22564314	T	C	T22564314C	SORBS3	NM_005775.5(SORBS3):c.707T>C:p.Val236Ala	coding	Benign
8	22564469	C	T	C22564469T	SORBS3	NM_005775.5(SORBS3):c.764C>T:p.Pro255Leu	coding	Benign
8	22565292	G	A	G22565292A	SORBS3	NM_005775.5(SORBS3):c.841G>A:p.Glu281Lys	coding	Benign
8	22567082	T	A	T22567082A	SORBS3	NM_005775.5(SORBS3):c.1212T>A:p.Gly404=	coding	Benign
8	22569188	C	T	C22569188T	SORBS3	NM_005775.5(SORBS3):c.1346C>T:p.Pro449Leu	coding	Benign
8	22570975	G	A	G22570975A	SORBS3	NM_005775.5(SORBS3):c.1497G>A:p.Thr499=	coding	Benign
8	22571077	G	A	G22571077A	SORBS3	NM_005775.5(SORBS3):c.1599G>A:p.Leu533=	coding	Benign
8	22571725	G	A	G22571725A	SORBS3	NM_005775.5(SORBS3):c.1751G>A:p.Gly584Asp	coding	Benign
8	22614960	G	A	G22614960A	CCAR2	NM_021174.6(CCAR2):c.1164G>A:p.Ala388=	coding	Benign
8	22615709	G	T	G22615709T	CCAR2	NM_021174.6(CCAR2):c.1405G>T:p.Asp469Tyr	coding	Benign
8	22618341	C	T	C22618341T	CCAR2	NM_021174.6(CCAR2):c.2074-8C>T	noncoding	Benign
8	22618876	T	C	T22618876C	CCAR2	NM_021174.6(CCAR2):c.2382T>C:p.Ala794=	coding	Benign
8	22630437	G	A	G22630437A	BIN3	NM_018688.6(BIN3):c.297+5C>T	noncoding	Benign
8	22690557	C	T	C22690557T	EGR3	NM_004430.3(EGR3):c.1080G>A:p.Glu360=	coding	Benign
8	22690623	G	A	G22690623A	EGR3	NM_004430.3(EGR3):c.1014C>T:p.Cys338=	coding	Benign
8	22691403	G	A	G22691403A	EGR3	NM_004430.3(EGR3):c.234C>T:p.Pro78=	coding	Benign
8	23004524	C	A	C23004524A	RHOBTB2	NM_015178.3(RHOBTB2):c.90C>A:p.Leu30=	coding	Benign
8	23006101	C	T	C23006101T	RHOBTB2	NM_015178.3(RHOBTB2):c.438C>T:p.Tyr146=	coding	Benign
8	23006962	G	A	G23006962A	RHOBTB2	NM_015178.3(RHOBTB2):c.717G>A:p.Pro239=	coding	Benign
8	23007013	C	T	C23007013T	RHOBTB2	NM_015178.3(RHOBTB2):c.768C>T:p.Pro256=	coding	Benign
8	23007244	C	T	C23007244T	RHOBTB2	NM_015178.3(RHOBTB2):c.999C>T:p.His333=	coding	Benign
8	23007627	G	A	G23007627A	RHOBTB2	NM_001160036.2(RHOBTB2):c.1448G>A:p.Arg483His	coding	Pathogenic/Likely_pathogenic
8	23007698	C	T	C23007698T	RHOBTB2	NM_001160036.2(RHOBTB2):c.1519C>T:p.Arg507Cys	coding	Pathogenic/Likely_pathogenic
8	23007710	C	G	C23007710G	RHOBTB2	NM_015178.3(RHOBTB2):c.1465C>G:p.Arg489Gly	coding	Pathogenic/Likely_pathogenic
8	23007711	G	A	G23007711A	RHOBTB2	NM_001160036.2(RHOBTB2):c.1532G>A:p.Arg511Gln	coding	Pathogenic/Likely_pathogenic
8	23015697	C	T	C23015697T	RHOBTB2	NM_015178.3(RHOBTB2):c.1920C>T:p.Asn640=	coding	Benign
8	23114694	G	A	G23114694A	TNFRSF10C	NM_003841.5(TNFRSF10C):c.204G>A:p.Pro68=	coding	Benign
8	23114715	C	T	C23114715T	TNFRSF10C	NM_003841.5(TNFRSF10C):c.225C>T:p.Tyr75=	coding	Benign
8	23137998	T	G	T23137998G	TNFRSF10D	NM_003840.5(TNFRSF10D):c.1033A>C:p.Thr345Pro	coding	Benign
8	23147026	A	G	A23147026G	TNFRSF10D	NM_003840.5(TNFRSF10D):c.417T>C:p.Cys139=	coding	Benign
8	23191695	C	A	C23191695A	TNFRSF10A	NM_003844.4(TNFRSF10A):c.1406G>T:p.Ter469Leu	coding	Benign
8	23191760	G	C	G23191760C	TNFRSF10A	NM_003844.4(TNFRSF10A):c.1341C>G:p.Leu447=	coding	Benign
8	23197122	A	C	A23197122C	TNFRSF10A	NM_003844.4(TNFRSF10A):c.1087+10T>G	noncoding	Benign
8	23197125	C	T	C23197125T	TNFRSF10A	NM_003844.4(TNFRSF10A):c.1087+7G>A	noncoding	Benign
8	23199347	A	G	A23199347G	TNFRSF10A	NM_003844.4(TNFRSF10A):c.933T>C:p.Ser311=	coding	Benign
8	23199374	G	A	G23199374A	TNFRSF10A	NM_003844.4(TNFRSF10A):c.906C>T:p.Asn302=	coding	Benign
8	23199389	G	A	G23199389A	TNFRSF10A	NM_003844.4(TNFRSF10A):c.891C>T:p.Asn297=	coding	Benign
8	23199391	T	G	T23199391G	TNFRSF10A	NM_003844.4(TNFRSF10A):c.889A>C:p.Asn297His	coding	Benign
8	23224751	C	G	C23224751G	TNFRSF10A	NM_003844.4(TNFRSF10A):c.306+5G>C	noncoding	Benign
8	23224856	C	G	C23224856G	TNFRSF10A	NM_003844.4(TNFRSF10A):c.206G>C:p.Arg69Pro	coding	Benign
8	23258380	C	T	C23258380T	CHMP7	NM_152272.5(CHMP7):c.891C>T:p.Ala297=	coding	Benign
8	23258812	C	T	C23258812T	CHMP7	NM_152272.5(CHMP7):c.1041C>T:p.Leu347=	coding	Benign
8	23360210	T	G	T23360210G	LOXL2	NM_002318.3(LOXL2):c.411A>C:p.Ala137=	coding	Benign
8	23360240	G	A	G23360240A	LOXL2	NM_002318.3(LOXL2):c.381C>T:p.His127=	coding	Benign
8	23368195	C	A	C23368195A	LOXL2	NM_002318.3(LOXL2):c.157G>T:p.Val53Leu	coding	Benign
8	23571580	G	T	G23571580T	SLC25A37	NM_016612.4(SLC25A37):c.742G>T:p.Ala248Ser	coding	Benign
8	23571669	C	T	C23571669T	SLC25A37	NM_016612.4(SLC25A37):c.831C>T:p.Gly277=	coding	Benign
8	23681332	C	T	C23681332T	NKX3-1	NM_006167.4(NKX3-1):c.594G>A:p.Pro198=	coding	Benign
8	23681395	A	G	A23681395G	NKX3-1	NM_006167.4(NKX3-1):c.531T>C:p.Tyr177=	coding	Benign
8	23702571	G	C	G23702571C	NKX2-6	NM_001136271.2(NKX2-6):c.786C>G:p.Gly262=	coding	Benign
8	23702906	A	G	A23702906G	NKX2-6	NM_001136271.2(NKX2-6):c.451T>C:p.Phe151Leu	coding	Pathogenic
8	23702971	G	T	G23702971T	NKX2-6	NM_001136271.2(NKX2-6):c.386C>A:p.Ala129Glu	coding	Benign
8	23706416	G	A	G23706416A	NKX2-6	NM_001136271.2(NKX2-6):c.183C>T:p.Gly61=	coding	Benign
8	24313443	C	A	C24313443A	ADAM28	NM_014265.6(ADAM28):c.439C>A:p.His147Asn	coding	Benign
8	24392292	C	T	C24392292T	ADAMDEC1	NM_014479.3(ADAMDEC1):c.119C>T:p.Thr40Met	coding	Benign
8	24392304	T	G	T24392304G	ADAMDEC1	NM_014479.3(ADAMDEC1):c.131T>G:p.Ile44Arg	coding	Benign
8	24393296	T	C	T24393296C	ADAMDEC1	NM_014479.3(ADAMDEC1):c.242T>C:p.Ile81Thr	coding	Benign
8	24394146	T	C	T24394146C	ADAMDEC1	NM_014479.3(ADAMDEC1):c.362T>C:p.Met121Thr	coding	Benign
8	24398561	T	C	T24398561C	ADAMDEC1	NM_014479.3(ADAMDEC1):c.762+10T>C	noncoding	Benign
8	24398876	A	T	A24398876T	ADAMDEC1	NM_014479.3(ADAMDEC1):c.765A>T:p.Ile255=	coding	Benign
8	24398999	T	C	T24398999C	ADAMDEC1	NM_014479.3(ADAMDEC1):c.888T>C:p.Ser296=	coding	Benign
8	24402087	C	T	C24402087T	ADAMDEC1	NM_014479.3(ADAMDEC1):c.1315C>T:p.Pro439Ser	coding	Benign
8	24404005	G	A	G24404005A	ADAMDEC1	NM_014479.3(ADAMDEC1):c.1323G>A:p.Glu441=	coding	Benign
8	24913805	G	A	G24913805A	NEFM	NM_005382.2(NEFM):c.12G>A:p.Thr4=	coding	Benign
8	24914471	G	T	G24914471T	NEFM	NM_005382.2(NEFM):c.678G>T:p.Ser226=	coding	Benign
8	24917642	C	A	C24917642A	NEFM	NM_005382.2(NEFM):c.1787C>A:p.Ala596Asp	coding	Benign
8	24951004	A	G	A24951004G	NEFL	NM_006158.4(NEFL):c.*1806T>C	noncoding	Benign
8	24951466	C	T	C24951466T	NEFL	NM_006158.4(NEFL):c.*1344G>A	noncoding	Benign
8	24951517	T	C	T24951517C	NEFL	NM_006158.5(NEFL):c.*1293A>G	noncoding	Benign
8	24951554	C	T	C24951554T	NEFL	NM_006158.4(NEFL):c.*1256G>A	noncoding	Benign
8	24951932	T	C	T24951932C	NEFL	NM_006158.4(NEFL):c.*878A>G	noncoding	Benign
8	24952123	C	G	C24952123G	NEFL	NM_006158.4(NEFL):c.*687G>C	noncoding	Benign
8	24952324	A	C	A24952324C	NEFL	NM_006158.4(NEFL):c.*486T>G	noncoding	Benign
8	24952384	C	T	C24952384T	NEFL	NM_006158.4(NEFL):c.*426G>A	noncoding	Benign
8	24952566	T	C	T24952566C	NEFL	NM_006158.4(NEFL):c.*244A>G	noncoding	Benign
8	24952575	T	A	T24952575A	NEFL	NM_006158.4(NEFL):c.*235A>T	noncoding	Benign
8	24952709	T	C	T24952709C	NEFL	NM_006158.4(NEFL):c.*101A>G	noncoding	Benign
8	24952728	A	T	A24952728T	NEFL	NM_006158.4(NEFL):c.*82T>A	noncoding	Benign
8	24952882	G	T	G24952882T	NEFL	NM_006158.4(NEFL):c.1560C>A:p.Thr520=	coding	Benign
8	24953507	G	A	G24953507A	NEFL	NM_006158.4(NEFL):c.1458C>T:p.Ala486=	coding	Benign/Likely_benign
8	24953558	C	T	C24953558T	NEFL	NM_006158.5(NEFL):c.1407G>A:p.Glu469=	coding	Benign
8	24953563	C	T	C24953563T	NEFL	NM_006158.4(NEFL):c.1402G>A:p.Asp468Asn	coding	Benign/Likely_benign
8	24953636	G	A	G24953636A	NEFL	NM_006158.4(NEFL):c.1329C>T:p.Tyr443=	coding	Benign/Likely_benign
8	24953646	G	A	G24953646A	NEFL	NM_006158.4(NEFL):c.1319C>T:p.Pro440Leu	coding	Pathogenic
8	24953690	G	A	G24953690A	NEFL	NM_006158.4(NEFL):c.1275C>T:p.Gly425=	coding	Benign/Likely_benign
8	24953704	G	A	G24953704A	NEFL	NM_006158.4(NEFL):c.1261C>T:p.Arg421Ter	coding	Pathogenic
8	24953753	G	A	G24953753A	NEFL	NM_006158.4(NEFL):c.1212C>T:p.Ser404=	coding	Benign/Likely_benign
8	24953779	C	T	C24953779T	NEFL	NM_006158.4(NEFL):c.1186G>A:p.Glu396Lys	coding	Pathogenic
8	24953808	A	G	A24953808G	NEFL	NM_006158.4(NEFL):c.1170-13T>C	coding	Benign/Likely_benign
8	24954233	G	A	G24954233A	NEFL	NM_006158.4(NEFL):c.1117C>T:p.Gln373Ter	coding	Pathogenic
8	24955433	C	G	C24955433G	NEFL	NM_006158.4(NEFL):c.1044+39G>C	noncoding	Benign
8	24955490	G	C	G24955490C	NEFL	NM_006158.4(NEFL):c.1026C>G:p.Ala342=	coding	Benign/Likely_benign
8	24955515	T	G	T24955515G	NEFL	NM_006158.4(NEFL):c.1001A>C:p.Gln334Pro	coding	Pathogenic
8	24955521	T	G	T24955521G	NEFL	NM_006158.4(NEFL):c.995A>C:p.Gln332Pro	coding	Pathogenic
8	24955661	G	A	G24955661A	NEFL	NM_006158.4(NEFL):c.855C>T:p.Thr285=	coding	Benign/Likely_benign
8	24955713	A	G	A24955713G	NEFL	NM_006158.4(NEFL):c.803T>C:p.Leu268Pro	coding	Pathogenic
8	24955796	G	A	G24955796A	NEFL	NM_006158.4(NEFL):c.720C>T:p.Tyr240=	coding	Benign
8	24955849	G	A	G24955849A	NEFL	NM_006158.4(NEFL):c.667C>T:p.Leu223=	coding	Benign/Likely_benign
8	24955888	C	A	C24955888A	NEFL	NM_006158.4(NEFL):c.628G>T:p.Glu210Ter	coding	Pathogenic
8	24955932	G	A	G24955932A	NEFL	NM_006158.4(NEFL):c.584C>T:p.Ala195Val	coding	Benign/Likely_benign
8	24955934	T	G	T24955934G	NEFL	NM_006158.4(NEFL):c.582A>C:p.Glu194Asp	coding	Benign/Likely_benign
8	24956009	C	T	C24956009T	NEFL	NM_006158.5(NEFL):c.507G>A:p.Glu169=	coding	Benign
8	24956029	C	A	C24956029A	NEFL	NM_006158.4(NEFL):c.487G>T:p.Glu163Ter	coding	Pathogenic
8	24956070	G	A	G24956070A	NEFL	NM_006158.4(NEFL):c.446C>T:p.Ala149Val	coding	Pathogenic
8	24956098	C	A	C24956098A	NEFL	NM_006158.4(NEFL):c.418G>T:p.Glu140Ter	coding	Pathogenic
8	24956223	T	C	T24956223C	NEFL	NM_006158.4(NEFL):c.293A>G:p.Asn98Ser	coding	Pathogenic
8	24956235	A	G	A24956235G	NEFL	NM_006158.4(NEFL):c.281T>C:p.Leu94Pro	coding	Pathogenic
8	24956289	A	G	A24956289G	NEFL	NM_006158.4(NEFL):c.227T>C:p.Val76Ala	coding	Benign/Likely_benign
8	24956324	C	T	C24956324T	NEFL	NM_006158.4(NEFL):c.192G>A:p.Leu64=	coding	Benign
8	24956451	G	C	G24956451C	NEFL	NM_006158.4(NEFL):c.65C>G:p.Pro22Arg	coding	Pathogenic
8	24956452	G	A	G24956452A	NEFL	NM_006158.5(NEFL):c.64C>T:p.Pro22Ser	coding	Pathogenic/Likely_pathogenic
8	24956452	G	T	G24956452T	NEFL	NM_006158.4(NEFL):c.64C>A:p.Pro22Thr	coding	Pathogenic
8	24956484	G	T	G24956484T	NEFL	NM_006158.5(NEFL):c.32C>A:p.Ser11Ter	coding	Pathogenic
8	24956493	G	A	G24956493A	NEFL	NM_006158.4(NEFL):c.23C>T:p.Pro8Leu	coding	Pathogenic
8	24956493	G	C	G24956493C	NEFL	NM_006158.4(NEFL):c.23C>G:p.Pro8Arg	coding	Pathogenic
8	24956493	G	T	G24956493T	NEFL	NM_006158.4(NEFL):c.23C>A:p.Pro8Gln	coding	Pathogenic
8	24956691	G	T	G24956691T	NEFL	NM_006158.4(NEFL):c.-176C>A	noncoding	Benign
8	24956698	G	C	G24956698C	NEFL	NC_000008.11:g.24956698G>C	noncoding	Benign
8	24956889	T	C	T24956889C	NEFL	NC_000008.11:g.24956889T>C	noncoding	Benign
8	25317094	C	T	C25317094T	DOCK5	NM_024940.8(DOCK5):c.1406C>T:p.Thr469Met	coding	Benign
8	25363053	C	T	C25363053T	DOCK5	NM_024940.8(DOCK5):c.2956C>T:p.Leu986Phe	coding	Benign
8	25363056	A	T	A25363056T	DOCK5	NM_024940.8(DOCK5):c.2959A>T:p.Met987Leu	coding	Benign
8	25377406	A	G	A25377406G	DOCK5	NM_024940.8(DOCK5):c.3918A>G:p.Ser1306=	coding	Benign
8	25391941	G	A	G25391941A	DOCK5	NM_024940.8(DOCK5):c.4401G>A:p.Pro1467=	coding	Benign
8	25400003	C	T	C25400003T	DOCK5	NM_024940.8(DOCK5):c.4788+9C>T	noncoding	Benign
8	25419460	C	G	C25419460G	GNRH1	NM_001083111.2(GNRH1):c.238G>C:p.Glu80Gln	coding	Benign
8	25421627	G	A	G25421627A	GNRH1	NM_001083111.2(GNRH1):c.183C>T:p.Phe61=	coding	Benign
8	25423284	C	G	C25423284G	GNRH1	NM_001083111.2(GNRH1):c.47G>C:p.Trp16Ser	coding	Benign
8	25460471	C	T	C25460471T	CDCA2	NM_152562.4(CDCA2):c.149C>T:p.Thr50Ile	coding	Benign
8	25479965	G	A	G25479965A	CDCA2	NM_152562.4(CDCA2):c.873G>A:p.Ser291=	coding	Benign
8	25488617	A	G	A25488617G	CDCA2	NM_152562.4(CDCA2):c.1599A>G:p.Lys533=	coding	Benign
8	25506927	A	C	A25506927C	CDCA2	NM_152562.4(CDCA2):c.2261A>C:p.Lys754Thr	coding	Benign
8	25861305	T	C	T25861305C	EBF2	NM_022659.4(EBF2):c.1164+4A>G	noncoding	Benign
8	25862751	C	T	C25862751T	EBF2	NM_022659.4(EBF2):c.1056G>A:p.Lys352=	coding	Benign
8	26581971	C	T	C26581971T	DPYSL2	NM_001197293.3(DPYSL2):c.357C>T:p.Ser119=	coding	Benign
8	26624181	G	A	G26624181A	DPYSL2	NM_001197293.3(DPYSL2):c.667G>A:p.Ala223Thr	coding	Benign
8	26634815	C	T	C26634815T	DPYSL2	NM_001197293.3(DPYSL2):c.1041C>T:p.Ile347=	coding	Benign
8	26643977	C	G	C26643977G	DPYSL2	NM_001197293.3(DPYSL2):c.1311C>G:p.Ala437=	coding	Benign
8	26647767	C	T	C26647767T	DPYSL2	NM_001197293.3(DPYSL2):c.1563C>T:p.Ser521=	coding	Benign
8	26653223	G	A	G26653223A	DPYSL2	NM_001197293.3(DPYSL2):c.1777-9G>A	noncoding	Benign
8	26655652	C	G	C26655652G	DPYSL2	NM_001197293.3(DPYSL2):c.1980C>G:p.Thr660=	coding	Benign
8	26770347	A	C	A26770347C	ADRA1A	NM_000680.4(ADRA1A):c.1203T>G:p.Ser401=	coding	Benign
8	26864151	C	A	C26864151A	ADRA1A	NM_000680.4(ADRA1A):c.819G>T:p.Thr273=	coding	Benign
8	26864247	G	T	G26864247T	ADRA1A	NM_000680.4(ADRA1A):c.723C>A:p.Ala241=	coding	Benign
8	26864508	G	C	G26864508C	ADRA1A	NM_000680.4(ADRA1A):c.462C>G:p.Ser154=	coding	Benign
8	26864510	A	C	A26864510C	ADRA1A	NM_000680.4(ADRA1A):c.460T>G:p.Ser154Ala	coding	Benign
8	27236882	C	T	C27236882T	STMN4	NM_030795.4(STMN4):c.615G>A:p.Arg205=	coding	Benign
8	27241159	G	C	G27241159C	STMN4	NM_030795.4(STMN4):c.294C>G:p.Pro98=	coding	Benign
8	27294212	G	A	G27294212A	TRIM35	NM_171982.5(TRIM35):c.630C>T:p.Ala210=	coding	Benign
8	27310873	G	A	G27310873A	TRIM35	NM_171982.5(TRIM35):c.363C>T:p.Cys121=	coding	Benign
8	27422364	C	T	C27422364T	PTK2B	NM_173176.3(PTK2B):c.532C>T:p.Leu178=	coding	Benign
8	27422366	G	A	G27422366A	PTK2B	NM_173176.3(PTK2B):c.534G>A:p.Leu178=	coding	Benign
8	27435789	C	T	C27435789T	PTK2B	NM_173176.3(PTK2B):c.1239C>T:p.Pro413=	coding	Benign
8	27440228	A	G	A27440228G	PTK2B	NM_173176.3(PTK2B):c.1835-9A>G	noncoding	Benign
8	27459780	T	C	T27459780C	CHRNA2	NM_000742.4(CHRNA2):c.*1849A>G	noncoding	Benign
8	27459820	A	G	A27459820G	CHRNA2	NM_000742.4(CHRNA2):c.*1809T>C	noncoding	Benign
8	27459928	G	T	G27459928T	CHRNA2	NM_000742.4(CHRNA2):c.*1701C>A	noncoding	Benign
8	27459962	C	T	C27459962T	CHRNA2	NM_000742.4(CHRNA2):c.*1667G>A	noncoding	Benign
8	27460149	G	A	G27460149A	CHRNA2	NM_000742.4(CHRNA2):c.*1480C>T	noncoding	Benign
8	27460183	T	C	T27460183C	CHRNA2	NM_000742.4(CHRNA2):c.*1446A>G	noncoding	Benign
8	27460226	G	C	G27460226C	CHRNA2	NM_000742.4(CHRNA2):c.*1403C>G	noncoding	Benign
8	27460237	T	C	T27460237C	CHRNA2	NM_000742.4(CHRNA2):c.*1392A>G	noncoding	Benign
8	27460245	G	A	G27460245A	CHRNA2	NM_000742.4(CHRNA2):c.*1384C>T	noncoding	Benign
8	27460470	A	G	A27460470G	CHRNA2	NM_000742.4(CHRNA2):c.*1159T>C	noncoding	Benign
8	27460512	C	T	C27460512T	CHRNA2	NM_000742.4(CHRNA2):c.*1117G>A	noncoding	Benign
8	27460623	C	T	C27460623T	CHRNA2	NM_000742.4(CHRNA2):c.*1006G>A	noncoding	Benign
8	27460626	C	T	C27460626T	CHRNA2	NM_000742.4(CHRNA2):c.*1003G>A	noncoding	Benign
8	27460693	G	A	G27460693A	CHRNA2	NM_000742.4(CHRNA2):c.*936C>T	noncoding	Benign
8	27460858	G	A	G27460858A	CHRNA2	NM_000742.4(CHRNA2):c.*771C>T	noncoding	Benign
8	27460874	C	T	C27460874T	CHRNA2	NM_000742.4(CHRNA2):c.*755G>A	noncoding	Benign
8	27460908	C	A	C27460908A	CHRNA2	NM_000742.4(CHRNA2):c.*721G>T	noncoding	Benign
8	27461006	C	T	C27461006T	CHRNA2	NM_000742.4(CHRNA2):c.*623G>A	noncoding	Benign
8	27461027	A	G	A27461027G	CHRNA2	NM_000742.4(CHRNA2):c.*602T>C	noncoding	Benign
8	27461118	C	G	C27461118G	CHRNA2	NM_000742.4(CHRNA2):c.*511G>C	noncoding	Benign
8	27461245	C	T	C27461245T	CHRNA2	NM_000742.4(CHRNA2):c.*384G>A	noncoding	Benign
8	27461344	C	G	C27461344G	CHRNA2	NM_000742.4(CHRNA2):c.*285G>C	noncoding	Benign
8	27461521	G	A	G27461521A	CHRNA2	NM_000742.4(CHRNA2):c.*108C>T	noncoding	Benign
8	27461600	C	T	C27461600T	CHRNA2	NM_000742.4(CHRNA2):c.*29G>A	noncoding	Benign
8	27461719	G	A	G27461719A	CHRNA2	NM_000742.4(CHRNA2):c.1500C>T:p.Ile500=	coding	Benign/Likely_benign
8	27461775	A	G	A27461775G	CHRNA2	NM_000742.4(CHRNA2):c.1465-21T>C	noncoding	Benign
8	27463006	G	A	G27463006A	CHRNA2	NM_000742.4(CHRNA2):c.1437C>T:p.His479=	coding	Benign/Likely_benign
8	27463119	G	A	G27463119A	CHRNA2	NM_000742.4(CHRNA2):c.1324C>T:p.Leu442=	coding	Benign
8	27463498	A	G	A27463498G	CHRNA2	NM_000742.4(CHRNA2):c.945T>C:p.Thr315=	coding	Benign
8	27463513	G	A	G27463513A	CHRNA2	NM_000742.4(CHRNA2):c.930C>T:p.Phe310=	coding	Benign
8	27463530	G	A	G27463530A	CHRNA2	NM_000742.4(CHRNA2):c.913C>T:p.Leu305=	coding	Benign
8	27463554	T	A	T27463554A	CHRNA2	NM_000742.4(CHRNA2):c.889A>T:p.Ile297Phe	coding	Pathogenic
8	27463607	A	T	A27463607T	CHRNA2	NM_000742.4(CHRNA2):c.836T>A:p.Ile279Asn	coding	Pathogenic
8	27463672	G	A	G27463672A	CHRNA2	NM_000742.4(CHRNA2):c.771C>T:p.Tyr257=	coding	Benign
8	27463759	G	A	G27463759A	CHRNA2	NM_000742.4(CHRNA2):c.684C>T:p.Ser228=	coding	Benign/Likely_benign
8	27463954	G	A	G27463954A	CHRNA2	NM_000742.4(CHRNA2):c.489C>T:p.Ala163=	coding	Benign/Likely_benign
8	27464022	C	T	C27464022T	CHRNA2	NM_000742.4(CHRNA2):c.450-29G>A	noncoding	Benign
8	27464080	G	C	G27464080C	CHRNA2	NM_000742.4(CHRNA2):c.450-87C>G	noncoding	Benign
8	27466912	T	C	T27466912C	CHRNA2	NM_000742.4(CHRNA2):c.449+317A>G	noncoding	Benign
8	27467217	A	G	A27467217G	CHRNA2	NM_000742.4(CHRNA2):c.449+12T>C	noncoding	Benign
8	27467305	T	C	T27467305C	CHRNA2	NM_000742.4(CHRNA2):c.373A>G:p.Thr125Ala	coding	Benign
8	27467327	G	A	G27467327A	CHRNA2	NM_000742.4(CHRNA2):c.351C>T:p.Asp117=	coding	Benign
8	27467353	G	T	G27467353T	CHRNA2	NM_000742.4(CHRNA2):c.340-15C>A	noncoding	Benign
8	27467674	G	T	G27467674T	CHRNA2	NM_000742.4(CHRNA2):c.340-336C>A	noncoding	Benign
8	27469882	G	A	G27469882A	CHRNA2	NM_000742.4(CHRNA2):c.173C>T:p.Thr58Ile	coding	Benign/Likely_benign
8	27469887	G	A	G27469887A	CHRNA2	NM_000742.4(CHRNA2):c.168C>T:p.Thr56=	coding	Benign
8	27469998	G	T	G27469998T	CHRNA2	NM_000742.4(CHRNA2):c.74-17C>A	noncoding	Benign
8	27470322	G	T	G27470322T	CHRNA2	NM_000742.4(CHRNA2):c.74-341C>A	noncoding	Benign
8	27470324	C	G	C27470324G	CHRNA2	NM_000742.4(CHRNA2):c.74-343G>C	noncoding	Benign
8	27470750	C	T	C27470750T	CHRNA2	NM_000742.4(CHRNA2):c.73+236G>A	noncoding	Benign
8	27470837	G	C	G27470837C	CHRNA2	NM_000742.4(CHRNA2):c.73+149C>G	noncoding	Benign
8	27470994	G	A	G27470994A	CHRNA2	NM_000742.4(CHRNA2):c.65C>T:p.Thr22Ile	coding	Benign
8	27471014	G	A	G27471014A	CHRNA2	NM_000742.4(CHRNA2):c.45C>T:p.Ser15=	coding	Benign/Likely_benign
8	27471103	G	T	G27471103T	CHRNA2	NM_000742.4(CHRNA2):c.-45C>A	noncoding	Benign
8	27471383	C	G	C27471383G	CHRNA2	NM_000742.4(CHRNA2):c.-136-189G>C	noncoding	Benign
8	27479066	A	G	A27479066G	CHRNA2	NM_000742.4(CHRNA2):c.-379T>C	noncoding	Benign
8	27479109	C	T	C27479109T	CHRNA2	NM_000742.4(CHRNA2):c.-422G>A	noncoding	Benign
8	27479111	G	A	G27479111A	CHRNA2	NM_000742.4(CHRNA2):c.-424C>T	noncoding	Benign
8	27479134	A	T	A27479134T	CHRNA2	NM_000742.4(CHRNA2):c.-447T>A	noncoding	Benign
8	27479135	C	T	C27479135T	CHRNA2	NM_000742.4(CHRNA2):c.-448G>A	noncoding	Benign
8	27479248	T	A	T27479248A	CHRNA2	NM_000742.4(CHRNA2):c.-561A>T	noncoding	Benign
8	27479250	A	T	A27479250T	CHRNA2	NM_000742.4(CHRNA2):c.-563T>A	noncoding	Benign
8	27491271	C	A	C27491271A	EPHX2	NM_001979.6(EPHX2):c.63C>A:p.Gly21=	coding	Benign
8	27500979	G	A	G27500979A	EPHX2	NM_001979.6(EPHX2):c.155G>A:p.Arg52Gln	coding	Benign
8	27520878	C	T	C27520878T	EPHX2	NM_001979.6(EPHX2):c.946-5C>T	noncoding	Benign
8	27598609	G	A	G27598609A	CLU	NM_001831.4(CLU):c.1191C>T:p.Asp397=	coding	Benign
8	27598613	G	A	G27598613A	CLU	NM_001831.4(CLU):c.1187C>T:p.Ser396Leu	coding	Benign
8	27599960	G	A	G27599960A	CLU	NM_001831.4(CLU):c.984C>T:p.Asp328=	coding	Benign
8	27599962	C	T	C27599962T	CLU	NM_001831.4(CLU):c.982G>A:p.Asp328Asn	coding	Benign
8	27599990	G	C	G27599990C	CLU	NM_001831.4(CLU):c.954C>G:p.Pro318=	coding	Benign
8	27606346	C	G	C27606346G	CLU	NM_001831.4(CLU):c.417+8G>C	noncoding	Benign
8	27606389	C	T	C27606389T	CLU	NM_001831.4(CLU):c.382G>A:p.Val128Ile	coding	Benign
8	27609061	G	A	G27609061A	CLU	NM_001831.4(CLU):c.123C>T:p.Tyr41=	coding	Benign
8	27774556	T	G	T27774556G	ESCO2	NM_001017420.3(ESCO2):c.-68T>G	noncoding	Benign
8	27774626	C	T	C27774626T	ESCO2	NM_001017420.3(ESCO2):c.-17+19C>T	noncoding	Benign
8	27776455	C	G	C27776455G	ESCO2	NM_001017420.3(ESCO2):c.147C>G:p.Cys49Trp	coding	Benign/Likely_benign
8	27776459	C	T	C27776459T	ESCO2	NM_001017420.3(ESCO2):c.151C>T:p.Gln51Ter	coding	Pathogenic
8	27776547	C	T	C27776547T	ESCO2	NM_001017420.3(ESCO2):c.239C>T:p.Ala80Val	coding	Benign
8	27776813	C	T	C27776813T	ESCO2	NM_001017420.3(ESCO2):c.505C>T:p.Arg169Ter	coding	Pathogenic
8	27776814	G	A	G27776814A	ESCO2	NM_001017420.3(ESCO2):c.506G>A:p.Arg169Gln	coding	Benign/Likely_benign
8	27776818	G	A	G27776818A	ESCO2	NM_001017420.3(ESCO2):c.510G>A:p.Val170=	coding	Benign
8	27776912	C	T	C27776912T	ESCO2	NM_001017420.3(ESCO2):c.604C>T:p.Gln202Ter	coding	Pathogenic
8	27777072	T	C	T27777072C	ESCO2	NM_001017420.3(ESCO2):c.764T>C:p.Phe255Ser	coding	Benign/Likely_benign
8	27777128	C	G	C27777128G	ESCO2	NM_001017420.3(ESCO2):c.820C>G:p.Leu274Val	coding	Benign
8	27780179	A	G	A27780179G	ESCO2	NM_001017420.3(ESCO2):c.867A>G:p.Ser289=	coding	Benign/Likely_benign
8	27784092	G	A	G27784092A	ESCO2	NM_001017420.3(ESCO2):c.1013+35G>A	noncoding	Benign
8	27787895	G	T	G27787895T	ESCO2	NM_001017420.3(ESCO2):c.1024G>T:p.Glu342Ter	coding	Pathogenic
8	27787934	C	T	C27787934T	ESCO2	NM_001017420.3(ESCO2):c.1063C>T:p.Gln355Ter	coding	Pathogenic
8	27787947	A	C	A27787947C	ESCO2	NM_001017420.3(ESCO2):c.1076A>C:p.Gln359Pro	coding	Benign/Likely_benign
8	27787965	G	A	G27787965A	ESCO2	NM_001017420.3(ESCO2):c.1094G>A:p.Arg365Lys	coding	Benign/Likely_benign
8	27788003	G	A	G27788003A	ESCO2	NM_001017420.3(ESCO2):c.1131+1G>A	coding	Pathogenic
8	27788840	A	G	A27788840G	ESCO2	NM_001017420.3(ESCO2):c.1132-7A>G	noncoding	Pathogenic/Likely_pathogenic
8	27788979	G	C	G27788979C	ESCO2	NM_001017420.3(ESCO2):c.1263+1G>C	coding	Pathogenic
8	27791967	G	A	G27791967A	ESCO2	NM_001017420.3(ESCO2):c.1268G>A:p.Trp423Ter	coding	Pathogenic
8	27791968	G	A	G27791968A	ESCO2	NM_001017420.3(ESCO2):c.1269G>A:p.Trp423Ter	coding	Pathogenic
8	27792650	G	A	G27792650A	ESCO2	NM_001017420.3(ESCO2):c.1354-18G>A	noncoding	Pathogenic
8	27792710	C	T	C27792710T	ESCO2	NM_001017420.3(ESCO2):c.1396C>T:p.Gln466Ter	coding	Pathogenic
8	27799565	A	G	A27799565G	ESCO2	NM_001017420.3(ESCO2):c.1522A>G:p.Ile508Val	coding	Benign
8	27799591	G	A	G27799591A	ESCO2	NM_001017420.3(ESCO2):c.1548G>A:p.Thr516=	coding	Benign/Likely_benign
8	27799658	T	G	T27799658G	ESCO2	NM_001017420.3(ESCO2):c.1615T>G:p.Trp539Gly	coding	Pathogenic
8	27799690	T	C	T27799690C	ESCO2	NM_001017420.3(ESCO2):c.1647T>C:p.Ile549=	coding	Benign/Likely_benign
8	27803304	A	G	A27803304G	ESCO2	NM_001017420.3(ESCO2):c.1674-2A>G	noncoding	Pathogenic
8	27803305	G	T	G27803305T	ESCO2	NM_001017420.3(ESCO2):c.1674-1G>T	noncoding	Pathogenic
8	27803367	C	A	C27803367A	ESCO2	NM_001017420.3(ESCO2):c.1735C>A:p.Pro579Thr	coding	Benign
8	27803472	G	A	G27803472A	ESCO2	NM_001017420.3(ESCO2):c.*34G>A	noncoding	Benign
8	27803568	G	A	G27803568A	ESCO2	NM_001017420.3(ESCO2):c.*130G>A	noncoding	Benign
8	27803579	T	C	T27803579C	ESCO2	NM_001017420.3(ESCO2):c.*141T>C	noncoding	Benign
8	27803737	T	C	T27803737C	ESCO2	NM_001017420.3(ESCO2):c.*299T>C	noncoding	Benign
8	27803801	C	A	C27803801A	ESCO2	NM_001017420.3(ESCO2):c.*363C>A	noncoding	Benign
8	27803863	G	A	G27803863A	ESCO2	NM_001017420.3(ESCO2):c.*425G>A	noncoding	Benign
8	27803909	T	A	T27803909A	ESCO2	NM_001017420.3(ESCO2):c.*471T>A	noncoding	Benign
8	27803929	A	G	A27803929G	ESCO2	NM_001017420.3(ESCO2):c.*491A>G	noncoding	Benign
8	27811070	C	G	C27811070G	PBK	NM_018492.4(PBK):c.660G>C:p.Glu220Asp	coding	Benign
8	27828125	T	C	T27828125C	PBK	NM_018492.4(PBK):c.132A>G:p.Val44=	coding	Benign
8	28099858	C	A	C28099858A	ELP3	NM_018091.6(ELP3):c.150C>A:p.Gly50=	coding	Benign
8	28160288	C	T	C28160288T	ELP3	NM_018091.6(ELP3):c.1317C>T:p.Tyr439=	coding	Benign
8	28339315	C	T	C28339315T	PNOC	NM_006228.5(PNOC):c.402C>T:p.Thr134=	coding	Benign
8	28527462	T	G	T28527462G	FZD3	NM_017412.4(FZD3):c.702T>G:p.Pro234=	coding	Benign
8	28527804	G	A	G28527804A	FZD3	NM_017412.4(FZD3):c.1044G>A:p.Ala348=	coding	Benign
8	28555858	C	T	C28555858T	FZD3	NM_017412.4(FZD3):c.1674C>T:p.Thr558=	coding	Benign
8	28716846	C	T	C28716846T	EXTL3	NM_001440.4(EXTL3):c.787C>T:p.Leu263=	coding	Benign
8	28716863	G	A	G28716863A	EXTL3	NM_001440.4(EXTL3):c.804G>A:p.Thr268=	coding	Benign
8	28716929	C	T	C28716929T	EXTL3	NM_001440.4(EXTL3):c.870C>T:p.Asn290=	coding	Benign
8	28717016	G	A	G28717016A	EXTL3	NM_001440.4(EXTL3):c.957G>A:p.Leu319=	coding	Benign
8	28717074	C	T	C28717074T	EXTL3	NM_001440.4(EXTL3):c.1015C>T:p.Arg339Trp	coding	Pathogenic
8	28717383	G	C	G28717383C	EXTL3	NM_001440.4(EXTL3):c.1324G>C:p.Val442Leu	coding	Benign/Likely_benign
8	28717441	C	T	C28717441T	EXTL3	NM_001440.4(EXTL3):c.1382C>T:p.Pro461Leu	coding	Pathogenic
8	28717496	C	T	C28717496T	EXTL3	NM_001440.4(EXTL3):c.1437C>T:p.Asn479=	coding	Benign
8	28717934	A	G	A28717934G	EXTL3	NM_001440.4(EXTL3):c.1875A>G:p.Ser625=	coding	Benign
8	28718029	A	G	A28718029G	EXTL3	NM_001440.4(EXTL3):c.1970A>G:p.Asn657Ser	coding	Pathogenic
8	28718195	C	T	C28718195T	EXTL3	NM_001440.4(EXTL3):c.2136C>T:p.Gly712=	coding	Benign
8	28750716	C	T	C28750716T	EXTL3	NM_001440.4(EXTL3):c.2610C>T:p.Asp870=	coding	Benign
8	29071682	T	C	T29071682C	KIF13B	NM_015254.4(KIF13B):c.5156A>G:p.Tyr1719Cys	coding	Benign
8	29092763	C	T	C29092763T	KIF13B	NM_015254.4(KIF13B):c.4440G>A:p.Pro1480=	coding	Benign
8	29116847	T	C	T29116847C	KIF13B	NM_015254.4(KIF13B):c.3821A>G:p.Asn1274Ser	coding	Benign
8	30131945	A	G	A30131945G	MBOAT4	NM_001100916.2(MBOAT4):c.1306T>C:p.Ter436Arg	coding	Benign
8	30132393	G	A	G30132393A	MBOAT4	NM_001100916.2(MBOAT4):c.858C>T:p.Pro286=	coding	Benign
8	30132685	C	T	C30132685T	MBOAT4	NM_001100916.2(MBOAT4):c.566G>A:p.Arg189His	coding	Benign
8	30607141	C	A	C30607141A	GTF2E2	NM_002095.6(GTF2E2):c.559G>T:p.Asp187Tyr	coding	Pathogenic
8	30612294	A	G	A30612294G	GTF2E2	NM_002095.6(GTF2E2):c.549+5T>C	noncoding	Benign
8	30612400	C	G	C30612400G	GTF2E2	NM_002095.6(GTF2E2):c.448G>C:p.Ala150Pro	coding	Pathogenic
8	30614598	A	C	A30614598C	GTF2E2	NM_002095.6(GTF2E2):c.366+10T>G	noncoding	Benign
8	30679589	C	T	C30679589T	GSR	NM_000637.5(GSR):c.1500G>A:p.Thr500=	coding	Benign
8	30681006	A	G	A30681006G	GSR	NM_000637.5(GSR):c.1317T>C:p.Asn439=	coding	Benign
8	30684120	C	G	C30684120G	GSR	NM_000637.5(GSR):c.1121G>C:p.Gly374Ala	coding	Pathogenic
8	30689209	C	T	C30689209T	GSR	NM_000637.5(GSR):c.993G>A:p.Trp331Ter	coding	Pathogenic
8	30692963	C	T	C30692963T	GSR	NM_000637.5(GSR):c.882+6G>A	noncoding	Benign
8	30696489	G	A	G30696489A	GSR	NM_000637.5(GSR):c.696-10C>T	noncoding	Benign
8	30703138	C	T	C30703138T	GSR	NM_000637.5(GSR):c.595G>A:p.Ala199Thr	coding	Benign
8	30708107	G	A	G30708107A	GSR	NM_000637.5(GSR):c.457C>T:p.Arg153Cys	coding	Benign
8	30709907	A	T	A30709907T	GSR	NM_000637.5(GSR):c.334-5T>A	noncoding	Benign
8	30727575	A	G	A30727575G	GSR	NM_000637.5(GSR):c.261T>C:p.Gly87=	coding	Benign
8	30727647	G	A	G30727647A	GSR	NM_000637.5(GSR):c.189C>T:p.Ala63=	coding	Benign
8	30727793	T	C	T30727793C	GSR	NM_000637.5(GSR):c.43A>G:p.Ser15Gly	coding	Benign
8	30727795	G	T	G30727795T	GSR	NM_000637.5(GSR):c.41C>A:p.Pro14Gln	coding	Benign
8	30836822	T	C	T30836822C	TEX15	NM_001350162.2(TEX15):c.9462A>G:p.Pro3154=	coding	Benign
8	30836916	G	A	G30836916A	TEX15	NM_001350162.2(TEX15):c.9368C>T:p.Ser3123Phe	coding	Benign
8	30837446	A	C	A30837446C	TEX15	NM_001350162.2(TEX15):c.8838T>G:p.Ile2946Met	coding	Benign
8	30837662	G	T	G30837662T	TEX15	NM_001350162.2(TEX15):c.8622C>A:p.Ser2874=	coding	Benign
8	30842084	G	A	G30842084A	TEX15	NM_001350162.2(TEX15):c.8083C>T:p.Arg2695Ter	coding	Pathogenic
8	30842870	C	T	C30842870T	TEX15	NM_001350162.2(TEX15):c.7297G>A:p.Glu2433Lys	coding	Benign
8	30843122	C	T	C30843122T	TEX15	NM_001350162.2(TEX15):c.7045G>A:p.Glu2349Lys	coding	Benign
8	30843615	G	A	G30843615A	TEX15	NM_001350162.2(TEX15):c.6552C>T:p.Ser2184=	coding	Benign
8	30844192	T	C	T30844192C	TEX15	NM_001350162.2(TEX15):c.5975A>G:p.Asn1992Ser	coding	Benign
8	30844702	T	C	T30844702C	TEX15	NM_001350162.2(TEX15):c.5465A>G:p.Lys1822Arg	coding	Benign
8	30844871	G	T	G30844871T	TEX15	NM_001350162.2(TEX15):c.5296C>A:p.Leu1766Ile	coding	Benign
8	30845064	A	T	A30845064T	TEX15	NM_001350162.2(TEX15):c.5103T>A:p.Leu1701=	coding	Benign
8	30845100	C	G	C30845100G	TEX15	NM_001350162.2(TEX15):c.5067G>C:p.Glu1689Asp	coding	Benign
8	30845502	T	C	T30845502C	TEX15	NM_001350162.2(TEX15):c.4665A>G:p.Ala1555=	coding	Benign
8	30845550	G	A	G30845550A	TEX15	NM_001350162.2(TEX15):c.4617C>T:p.Ser1539=	coding	Benign
8	30846208	C	T	C30846208T	TEX15	NM_001350162.2(TEX15):c.3959G>A:p.Arg1320Gln	coding	Benign
8	30846599	T	A	T30846599A	TEX15	NM_001350162.2(TEX15):c.3568A>T:p.Lys1190Ter	coding	Pathogenic
8	30846657	C	T	C30846657T	TEX15	NM_001350162.2(TEX15):c.3510G>A:p.Pro1170=	coding	Benign
8	30846848	C	G	C30846848G	TEX15	NM_001350162.2(TEX15):c.3319G>C:p.Ala1107Pro	coding	Benign
8	30846888	A	C	A30846888C	TEX15	NM_001350162.2(TEX15):c.3279T>G:p.Tyr1093Ter	coding	Pathogenic
8	30847381	T	C	T30847381C	TEX15	NM_001350162.2(TEX15):c.2786A>G:p.Asp929Gly	coding	Benign
8	30847536	G	A	G30847536A	TEX15	NM_001350162.2(TEX15):c.2631C>T:p.Asn877=	coding	Benign
8	30848189	T	C	T30848189C	TEX15	NM_001350162.2(TEX15):c.1978A>G:p.Ile660Val	coding	Benign
8	30848556	A	G	A30848556G	TEX15	NM_001350162.2(TEX15):c.1611T>C:p.Asn537=	coding	Benign
8	30848817	T	A	T30848817A	TEX15	NM_001350162.2(TEX15):c.1350A>T:p.Ala450=	coding	Benign
8	30848970	A	G	A30848970G	TEX15	NM_001350162.2(TEX15):c.1197T>C:p.Asn399=	coding	Benign
8	31033432	C	G	C31033432G	WRN	NM_000553.4(WRN):c.-618C>G	noncoding	Benign
8	31033642	C	T	C31033642T	WRN	NM_000553.4(WRN):c.-408C>T	noncoding	Benign
8	31033772	G	C	G31033772C	WRN	NM_000553.4(WRN):c.-278G>C	noncoding	Benign
8	31033837	G	A	G31033837A	WRN	NM_000553.6(WRN):c.-213G>A	noncoding	Benign
8	31033887	C	G	C31033887G	WRN	NM_000553.6(WRN):c.-163C>G	noncoding	Benign
8	31058535	G	T	G31058535T	WRN	NM_000553.6(WRN):c.88G>T:p.Glu30Ter	coding	Pathogenic
8	31059200	A	G	A31059200G	WRN	NM_000553.6(WRN):c.144A>G:p.Glu48=	coding	Benign
8	31059227	C	A	C31059227A	WRN	NM_000553.6(WRN):c.171C>A:p.Tyr57Ter	coding	Pathogenic
8	31059227	C	G	C31059227G	WRN	NM_000553.6(WRN):c.171C>G:p.Tyr57Ter	coding	Pathogenic
8	31064384	T	A	T31064384A	WRN	NM_000553.6(WRN):c.305T>A:p.Leu102Ter	coding	Pathogenic
8	31064406	T	A	T31064406A	WRN	NM_000553.6(WRN):c.327T>A:p.Cys109Ter	coding	Pathogenic
8	31064419	G	A	G31064419A	WRN	NM_000553.6(WRN):c.340G>A:p.Val114Ile	coding	Benign
8	31064454	A	T	A31064454T	WRN	NM_000553.6(WRN):c.355+20A>T	noncoding	Benign
8	31064913	A	C	A31064913C	WRN	NM_000553.6(WRN):c.356-2A>C	noncoding	Pathogenic
8	31067041	C	T	C31067041T	WRN	NM_000553.6(WRN):c.513C>T:p.Cys171=	coding	Benign
8	31067082	T	G	T31067082G	WRN	NM_000553.6(WRN):c.554T>G:p.Leu185Ter	coding	Pathogenic
8	31067089	A	G	A31067089G	WRN	NM_000553.6(WRN):c.561A>G:p.Lys187=	coding	Pathogenic/Likely_pathogenic
8	31068276	C	T	C31068276T	WRN	NM_000553.6(WRN):c.673C>T:p.Arg225Ter	coding	Pathogenic
8	31068323	T	G	T31068323G	WRN	NM_000553.6(WRN):c.720T>G:p.Asn240Lys	coding	Benign/Likely_benign
8	31068328	G	T	G31068328T	WRN	NM_000553.6(WRN):c.724+1G>T	coding	Pathogenic/Likely_pathogenic
8	31080971	T	G	T31080971G	WRN	NM_000553.6(WRN):c.944T>G:p.Leu315Ter	coding	Pathogenic
8	31080988	G	T	G31080988T	WRN	NM_000553.6(WRN):c.961G>T:p.Glu321Ter	coding	Pathogenic
8	31080997	A	G	A31080997G	WRN	NM_000553.6(WRN):c.970A>G:p.Thr324Ala	coding	Benign/Likely_benign
8	31081006	G	T	G31081006T	WRN	NM_000553.6(WRN):c.979G>T:p.Gly327Ter	coding	Pathogenic
8	31081132	C	T	C31081132T	WRN	NM_000553.6(WRN):c.1105C>T:p.Arg369Ter	coding	Pathogenic/Likely_pathogenic
8	31081138	G	T	G31081138T	WRN	NM_000553.6(WRN):c.1111G>T:p.Glu371Ter	coding	Pathogenic
8	31081182	G	A	G31081182A	WRN	NM_000553.6(WRN):c.1155G>A:p.Glu385=	coding	Benign
8	31081188	G	A	G31081188A	WRN	NM_000553.6(WRN):c.1161G>A:p.Met387Ile	coding	Benign
8	31081274	A	G	A31081274G	WRN	NM_000553.6(WRN):c.1247A>G:p.Asp416Gly	coding	Benign
8	31083782	A	G	A31083782G	WRN	NM_000553.6(WRN):c.1350+3A>G	noncoding	Benign
8	31085193	G	A	G31085193A	WRN	NM_000553.6(WRN):c.1378G>A:p.Asp460Asn	coding	Benign
8	31087830	A	T	A31087830T	WRN	NM_000553.6(WRN):c.1486A>T:p.Lys496Ter	coding	Pathogenic
8	31088873	T	G	T31088873G	WRN	NM_000553.6(WRN):c.1577-17T>G	noncoding	Benign
8	31088887	C	A	C31088887A	WRN	NM_000553.6(WRN):c.1577-3C>A	noncoding	Benign
8	31090838	T	C	T31090838C	WRN	NM_000553.6(WRN):c.1725T>C:p.Tyr575=	coding	Benign/Likely_benign
8	31090843	A	T	A31090843T	WRN	NM_000553.6(WRN):c.1730A>T:p.Lys577Met	coding	Pathogenic
8	31090857	C	T	C31090857T	WRN	NM_000553.6(WRN):c.1744C>T:p.Gln582Ter	coding	Pathogenic
8	31090901	T	C	T31090901C	WRN	NM_000553.6(WRN):c.1788T>C:p.Ser596=	coding	Benign/Likely_benign
8	31090941	A	T	A31090941T	WRN	NM_000553.6(WRN):c.1828A>T:p.Lys610Ter	coding	Pathogenic
8	31091882	C	G	C31091882G	WRN	NM_000553.6(WRN):c.1882C>G:p.Leu628Val	coding	Benign/Likely_benign
8	31096777	C	A	C31096777A	WRN	NM_000553.6(WRN):c.1908C>A:p.Tyr636Ter	coding	Pathogenic
8	31096822	C	T	C31096822T	WRN	NM_000553.6(WRN):c.1953C>T:p.Gly651=	coding	Benign/Likely_benign
8	31100895	G	A	G31100895A	WRN	NM_000553.6(WRN):c.2028G>A:p.Trp676Ter	coding	Pathogenic
8	31111696	C	T	C31111696T	WRN	NM_000553.6(WRN):c.2170C>T:p.Gln724Ter	coding	Pathogenic
8	31111720	C	T	C31111720T	WRN	NM_000553.6(WRN):c.2194C>T:p.Arg732Ter	coding	Pathogenic
8	31111747	C	T	C31111747T	WRN	NM_000553.6(WRN):c.2221C>T:p.Arg741Ter	coding	Pathogenic
8	31111767	T	G	T31111767G	WRN	NM_000553.6(WRN):c.2241T>G:p.Leu747=	coding	Benign/Likely_benign
8	31111768	C	T	C31111768T	WRN	NM_000553.6(WRN):c.2242C>T:p.Gln748Ter	coding	Pathogenic
8	31116412	C	T	C31116412T	WRN	NM_000553.6(WRN):c.2332C>T:p.Gln778Ter	coding	Pathogenic
8	31116441	G	T	G31116441T	WRN	NM_000553.6(WRN):c.2361G>T:p.Leu787=	coding	Benign
8	31120294	C	T	C31120294T	WRN	NM_000553.6(WRN):c.2500C>T:p.Arg834Cys	coding	Benign/Likely_benign
8	31120338	T	A	T31120338A	WRN	NM_000553.6(WRN):c.2544T>A:p.Tyr848Ter	coding	Pathogenic
8	31120398	G	A	G31120398A	WRN	NM_000553.6(WRN):c.2604G>A:p.Trp868Ter	coding	Pathogenic
8	31124556	C	T	C31124556T	WRN	NM_000553.6(WRN):c.2665C>T:p.Arg889Ter	coding	Pathogenic
8	31124569	T	G	T31124569G	WRN	NM_000553.6(WRN):c.2678T>G:p.Leu893Ter	coding	Pathogenic
8	31132476	T	G	T31132476G	WRN	NM_000553.6(WRN):c.2937T>G:p.Ile979Met	coding	Benign
8	31132489	T	A	T31132489A	WRN	NM_000553.6(WRN):c.2950T>A:p.Leu984Ile	coding	Benign
8	31132498	C	T	C31132498T	WRN	NM_000553.6(WRN):c.2959C>T:p.Arg987Ter	coding	Pathogenic/Likely_pathogenic
8	31141436	C	T	C31141436T	WRN	NM_000553.6(WRN):c.2974C>T:p.Gln992Ter	coding	Pathogenic
8	31141456	T	A	T31141456A	WRN	NM_000553.6(WRN):c.2994T>A:p.Tyr998Ter	coding	Pathogenic
8	31141504	G	A	G31141504A	WRN	NM_000553.6(WRN):c.3042G>A:p.Trp1014Ter	coding	Pathogenic
8	31141564	T	G	T31141564G	WRN	NM_000553.6(WRN):c.3102T>G:p.Tyr1034Ter	coding	Pathogenic
8	31141606	C	T	C31141606T	WRN	NM_000553.6(WRN):c.3138+6C>T	noncoding	Benign
8	31141607	G	A	G31141607A	WRN	NM_000553.6(WRN):c.3138+7G>A	noncoding	Benign
8	31141680	G	C	G31141680C	WRN	NM_000553.6(WRN):c.3139-1G>C	noncoding	Pathogenic
8	31141764	G	T	G31141764T	WRN	NM_000553.6(WRN):c.3222G>T:p.Leu1074Phe	coding	Benign
8	31142496	T	C	T31142496C	WRN	NM_000553.6(WRN):c.3234-130T>C	noncoding	Benign
8	31142628	C	T	C31142628T	WRN	NM_000553.6(WRN):c.3236C>T:p.Ser1079Leu	coding	Benign
8	31142629	G	A	G31142629A	WRN	NM_000553.6(WRN):c.3237G>A:p.Ser1079=	coding	Benign/Likely_benign
8	31142630	A	T	A31142630T	WRN	NM_000553.6(WRN):c.3238A>T:p.Lys1080Ter	coding	Pathogenic
8	31143624	G	T	G31143624T	WRN	NM_000553.6(WRN):c.3383+1G>T	coding	Pathogenic
8	31147050	T	C	T31147050C	WRN	NM_000553.6(WRN):c.3384-3T>C	noncoding	Benign
8	31147063	C	T	C31147063T	WRN	NM_000553.6(WRN):c.3394C>T:p.Gln1132Ter	coding	Pathogenic
8	31147362	A	C	A31147362C	WRN	NM_000553.6(WRN):c.3460-2A>C	noncoding	Pathogenic
8	31147397	C	T	C31147397T	WRN	NM_000553.6(WRN):c.3493C>T:p.Gln1165Ter	coding	Pathogenic
8	31150454	A	T	A31150454T	WRN	NM_000553.6(WRN):c.3686A>T:p.Gln1229Leu	coding	Pathogenic
8	31154660	C	T	C31154660T	WRN	NM_000553.6(WRN):c.3724C>T:p.Gln1242Ter	coding	Pathogenic
8	31157461	C	T	C31157461T	WRN	NM_000553.6(WRN):c.3913C>T:p.Arg1305Ter	coding	Pathogenic
8	31157485	C	T	C31157485T	WRN	NM_000553.6(WRN):c.3937C>T:p.Gln1313Ter	coding	Pathogenic
8	31157509	C	T	C31157509T	WRN	NM_000553.6(WRN):c.3961C>T:p.Arg1321Ter	coding	Pathogenic
8	31167054	G	A	G31167054A	WRN	NM_000553.6(WRN):c.4015G>A:p.Val1339Ile	coding	Benign/Likely_benign
8	31167122	C	T	C31167122T	WRN	NM_000553.6(WRN):c.4083C>T:p.Ser1361=	coding	Benign
8	31167138	T	C	T31167138C	WRN	NM_000553.6(WRN):c.4099T>C:p.Cys1367Arg	coding	Benign
8	31173019	C	T	C31173019T	WRN	NM_000553.6(WRN):c.4216C>T:p.Arg1406Ter	coding	Benign/Likely_benign
8	31173672	A	G	A31173672G	WRN	NM_000553.6(WRN):c.*570A>G	noncoding	Benign
8	32595868	G	A	G32595868A	NRG1	NM_013962.2(NRG1):c.786G>A:p.Ser262=	coding	Benign
8	32614527	T	C	T32614527C	NRG1	NM_013962.2(NRG1):c.1045+8844T>C	coding	Benign
8	32763844	C	T	C32763844T	NRG1	NM_013956.5(NRG1):c.1380C>T:p.Pro460=	coding	Benign
8	32764113	G	A	G32764113A	NRG1	NM_013956.5(NRG1):c.1649G>A:p.Arg550Gln	coding	Benign
8	33500443	A	T	A33500443T	TTI2	NM_032509.4(MAK16):c.*1814A>T	coding	Pathogenic
8	33503763	G	A	G33503763A	TTI2	NM_025115.4(TTI2):c.1100C>T:p.Pro367Leu	coding	Pathogenic
8	33503832	C	T	C33503832T	TTI2	NM_001102401.4(TTI2):c.1031G>A:p.Arg344Gln	coding	Benign
8	33509857	C	T	C33509857T	TTI2	NM_001102401.4(TTI2):c.723G>A:p.Leu241=	coding	Benign
8	33512033	C	G	C33512033G	TTI2	NM_001102401.3(TTI2):c.581G>C:p.Gly194Ala	coding	Benign/Likely_benign
8	33512496	G	A	G33512496A	TTI2	NM_001102401.3(TTI2):c.118C>T:p.Pro40Ser	coding	Benign/Likely_benign
8	35568111	C	T	C35568111T	UNC5D	NM_080872.4(UNC5D):c.336C>T:p.Arg112=	coding	Benign
8	36815682	A	C	A36815682C	KCNU1	NM_001031836.3(KCNU1):c.990A>C:p.Gly330=	coding	Benign
8	36836864	A	G	A36836864G	KCNU1	NM_001031836.3(KCNU1):c.1437A>G:p.Lys479=	coding	Benign
8	36918815	C	T	C36918815T	KCNU1	NM_001031836.3(KCNU1):c.2522-8C>T	noncoding	Benign
8	36922620	G	C	G36922620C	KCNU1	NM_001031836.3(KCNU1):c.2727G>C:p.Leu909=	coding	Benign
8	36922624	G	A	G36922624A	KCNU1	NM_001031836.3(KCNU1):c.2731G>A:p.Ala911Thr	coding	Benign
8	36931139	C	T	C36931139T	KCNU1	NM_001031836.3(KCNU1):c.2925C>T:p.Asp975=	coding	Benign
8	37744575	T	A	T37744575A	ERLIN2	NM_007175.8(ERLIN2):c.303T>A:p.Tyr101Ter	coding	Pathogenic
8	37744590	C	T	C37744590T	ERLIN2	NM_007175.8(ERLIN2):c.318C>T:p.Asn106=	coding	Benign
8	37744605	T	C	T37744605C	ERLIN2	NM_007175.8(ERLIN2):c.333T>C:p.Tyr111=	coding	Benign
8	37749793	G	T	G37749793T	ERLIN2	NM_007175.8(ERLIN2):c.499-1G>T	noncoding	Pathogenic
8	37749860	T	C	T37749860C	ERLIN2	NM_007175.8(ERLIN2):c.557+8T>C	noncoding	Benign
8	37751672	G	A	G37751672A	ERLIN2	NM_007175.8(ERLIN2):c.696G>A:p.Lys232=	coding	Benign/Likely_benign
8	37753526	T	C	T37753526C	ERLIN2	NM_007175.8(ERLIN2):c.816T>C:p.Asn272=	coding	Benign
8	37762729	G	A	G37762729A	PLPBP	NM_007198.4(PLPBP):c.70G>A:p.Val24Met	coding	Benign/Likely_benign
8	37765583	A	G	A37765583G	PLPBP	NM_007198.4(PLPBP):c.157A>G:p.Met53Val	coding	Benign
8	37765634	G	A	G37765634A	PLPBP	NM_007198.4(PLPBP):c.207+1G>A	coding	Pathogenic
8	37765736	C	G	C37765736G	PLPBP	NM_007198.4(PLPBP):c.233C>G:p.Ser78Ter	coding	Pathogenic
8	37766324	C	T	C37766324T	PLPBP	NM_007198.4(PLPBP):c.288C>T:p.His96=	coding	Benign
8	37772753	A	G	A37772753G	PLPBP	NM_007198.4(PLPBP):c.320-2A>G	noncoding	Pathogenic
8	37775408	T	C	T37775408C	PLPBP	NM_007198.4(PLPBP):c.524T>C:p.Leu175Pro	coding	Pathogenic
8	37777998	G	A	G37777998A	PLPBP	NM_007198.4(PLPBP):c.722G>A:p.Arg241Gln	coding	Pathogenic
8	37834133	T	C	T37834133C	ADGRA2	NM_032777.10(ADGRA2):c.1608+5T>C	noncoding	Benign
8	37835733	G	A	G37835733A	ADGRA2	NM_032777.10(ADGRA2):c.2013G>A:p.Arg671=	coding	Benign
8	37835761	G	A	G37835761A	ADGRA2	NM_032777.10(ADGRA2):c.2041G>A:p.Ala681Thr	coding	Benign
8	37841384	G	C	G37841384C	ADGRA2	NM_032777.10(ADGRA2):c.3046G>C:p.Gly1016Arg	coding	Benign
8	37870435	A	G	A37870435G	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.3618T>C:p.Asn1206=	coding	Benign
8	37872228	G	A	G37872228A	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.2574C>T:p.His858=	coding	Benign
8	37872258	C	T	C37872258T	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.2544G>A:p.Ala848=	coding	Benign
8	37872997	A	G	A37872997G	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.1805T>C:p.Ile602Thr	coding	Benign
8	37874548	G	A	G37874548A	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.1589C>T:p.Pro530Leu	coding	Benign
8	37877143	A	G	A37877143G	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.780T>C:p.Asp260=	coding	Benign
8	37899277	G	C	G37899277C	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.165C>G:p.Ser55=	coding	Benign
8	37899310	C	T	C37899310T	RAB11FIP1	NM_001002814.3(RAB11FIP1):c.132G>A:p.Val44=	coding	Benign
8	37965413	G	A	G37965413A	ADRB3	NM_000025.3(ADRB3):c.1057C>T:p.Arg353Cys	coding	Benign
8	37966416	G	C	G37966416C	ADRB3	NM_000025.3(ADRB3):c.54C>G:p.Pro18=	coding	Benign
8	38057220	G	A	G38057220A	EIF4EBP1	NM_004095.4(EIF4EBP1):c.285G>A:p.Gln95=	coding	Benign
8	38142749	T	C	T38142749C	STAR	NM_000349.3(STAR):c.*1524A>G	noncoding	Benign
8	38143286	T	C	T38143286C	STAR	NM_000349.3(STAR):c.*987A>G	noncoding	Benign
8	38144307	A	G	A38144307G	STAR	NM_000349.3(STAR):c.824T>C:p.Leu275Pro	coding	Pathogenic
8	38144359	G	A	G38144359A	STAR	NM_000349.3(STAR):c.772C>T:p.Gln258Ter	coding	Pathogenic
8	38144382	C	T	C38144382T	STAR	NM_000349.3(STAR):c.749G>A:p.Trp250Ter	coding	Pathogenic
8	38145313	G	A	G38145313A	STAR	NM_000349.3(STAR):c.653C>T:p.Ala218Val	coding	Pathogenic
8	38145963	C	G	C38145963G	STAR	NM_000349.3(STAR):c.650G>C:p.Arg217Thr	coding	Pathogenic
8	38146036	G	A	G38146036A	STAR	NM_000349.3(STAR):c.577C>T:p.Arg193Ter	coding	Pathogenic
8	38146051	G	A	G38146051A	STAR	NM_000349.3(STAR):c.562C>T:p.Arg188Cys	coding	Pathogenic
8	38146054	C	T	C38146054T	STAR	NM_000349.3(STAR):c.559G>A:p.Val187Met	coding	Pathogenic/Likely_pathogenic
8	38146068	C	A	C38146068A	STAR	NM_000349.3(STAR):c.545G>T:p.Arg182Leu	coding	Pathogenic
8	38146068	C	T	C38146068T	STAR	NM_000349.3(STAR):c.545G>A:p.Arg182His	coding	Pathogenic/Likely_pathogenic
8	38146069	G	A	G38146069A	STAR	NM_000349.3(STAR):c.544C>T:p.Arg182Cys	coding	Pathogenic/Likely_pathogenic
8	38146108	C	T	C38146108T	STAR	NM_000349.3(STAR):c.505G>A:p.Glu169Lys	coding	Pathogenic/Likely_pathogenic
8	38146269	T	C	T38146269C	STAR	NM_000349.3(STAR):c.465+20A>G	noncoding	Benign
8	38146321	C	T	C38146321T	STAR	NM_000349.3(STAR):c.433G>A:p.Gly145Arg	coding	Benign
8	38148317	C	T	C38148317T	STAR	NM_000349.3(STAR):c.189G>A:p.Leu63=	coding	Benign
8	38148666	C	T	C38148666T	STAR	NM_000349.3(STAR):c.153G>A:p.Gln51=	coding	Benign
8	38150754	C	A	C38150754A	STAR	NM_000349.3(STAR):c.64+1G>T	noncoding	Pathogenic
8	38150777	G	T	G38150777T	STAR	NM_000349.3(STAR):c.42C>A:p.Tyr14Ter	coding	Pathogenic
8	38233015	A	G	A38233015G	DDHD2	NM_015214.3(DDHD2):c.21A>G:p.Gln7=	coding	Benign
8	38234399	G	T	G38234399T	DDHD2	NM_015214.3(DDHD2):c.226G>T:p.Gly76Cys	coding	Benign
8	38234400	G	A	G38234400A	DDHD2	NM_015214.3(DDHD2):c.227G>A:p.Gly76Asp	coding	Benign
8	38234507	C	T	C38234507T	DDHD2	NM_015214.3(DDHD2):c.334C>T:p.Arg112Ter	coding	Pathogenic
8	38234548	T	C	T38234548C	DDHD2	NM_015214.3(DDHD2):c.375T>C:p.Tyr125=	coding	Benign
8	38237546	C	A	C38237546A	DDHD2	NM_015214.3(DDHD2):c.420C>A:p.Tyr140Ter	coding	Pathogenic
8	38238144	C	T	C38238144T	DDHD2	NM_015214.3(DDHD2):c.557C>T:p.Thr186Met	coding	Benign
8	38240346	C	T	C38240346T	DDHD2	NM_015214.3(DDHD2):c.694C>T:p.Arg232Ter	coding	Pathogenic
8	38245752	C	T	C38245752T	DDHD2	NM_015214.3(DDHD2):c.859C>T:p.Arg287Ter	coding	Pathogenic
8	38245805	T	A	T38245805A	DDHD2	NM_015214.3(DDHD2):c.912T>A:p.Ile304=	coding	Benign
8	38245878	C	T	C38245878T	DDHD2	NM_015214.3(DDHD2):c.985C>T:p.Arg329Ter	coding	Pathogenic
8	38245955	C	G	C38245955G	DDHD2	NM_015214.3(DDHD2):c.1057+5C>G	noncoding	Pathogenic
8	38246563	T	C	T38246563C	DDHD2	NM_015214.3(DDHD2):c.1125+263T>C	noncoding	Benign
8	38247755	C	T	C38247755T	DDHD2	NM_015214.3(DDHD2):c.1168C>T:p.Leu390=	coding	Benign/Likely_benign
8	38252216	C	T	C38252216T	DDHD2	NM_015214.3(DDHD2):c.1546C>T:p.Arg516Ter	coding	Pathogenic
8	38252257	G	A	G38252257A	DDHD2	NM_015214.3(DDHD2):c.1587G>A:p.Thr529=	coding	Benign/Likely_benign
8	38253642	G	C	G38253642C	DDHD2	NM_015214.3(DDHD2):c.1978G>C:p.Asp660His	coding	Pathogenic/Likely_pathogenic
8	38253711	T	A	T38253711A	DDHD2	NM_015214.3(DDHD2):c.2047T>A:p.Cys683Ser	coding	Benign
8	38279537	T	C	T38279537C	NSD3	NM_023034.2(NSD3):c.3760+3A>G	noncoding	Benign
8	38279664	G	A	G38279664A	NSD3	NM_023034.2(NSD3):c.3636C>T:p.Ala1212=	coding	Benign
8	38290632	G	A	G38290632A	NSD3	NM_023034.2(NSD3):c.2961C>T:p.Asn987=	coding	Benign
8	38304635	T	C	T38304635C	NSD3	NM_023034.2(NSD3):c.2563A>G:p.Ser855Gly	coding	Benign
8	38305427	G	A	G38305427A	NSD3	NM_023034.2(NSD3):c.2261C>T:p.Ser754Leu	coding	Benign
8	38329811	C	G	C38329811G	NSD3	NM_023034.2(NSD3):c.1148G>C:p.Arg383Pro	coding	Benign
8	38347615	G	A	G38347615A	NSD3	NM_023034.2(NSD3):c.557C>T:p.Thr186Met	coding	Benign
8	38411194	G	A	G38411194A	FGFR1	NM_023110.2(FGFR1):c.*2434C>T	noncoding	Benign
8	38411440	A	G	A38411440G	FGFR1	NM_023110.2(FGFR1):c.*2188T>C	noncoding	Benign
8	38411529	A	C	A38411529C	FGFR1	NM_023110.2(FGFR1):c.*2099T>G	noncoding	Benign
8	38411858	C	T	C38411858T	FGFR1	NM_023110.2(FGFR1):c.*1770G>A	noncoding	Benign
8	38411996	T	C	T38411996C	FGFR1	NM_023110.2(FGFR1):c.*1632A>G	noncoding	Benign
8	38412417	C	A	C38412417A	FGFR1	NM_023110.2(FGFR1):c.*1211G>T	noncoding	Benign
8	38412576	G	A	G38412576A	FGFR1	NM_023110.2(FGFR1):c.*1052C>T	noncoding	Benign
8	38412634	A	G	A38412634G	FGFR1	NM_023110.3(FGFR1):c.*994T>C	noncoding	Benign
8	38412665	G	A	G38412665A	FGFR1	NM_023110.2(FGFR1):c.*963C>T	noncoding	Benign
8	38412722	T	A	T38412722A	FGFR1	NM_023110.2(FGFR1):c.*906A>T	noncoding	Benign/Likely_benign
8	38412905	C	G	C38412905G	FGFR1	NM_023110.2(FGFR1):c.*723G>C	noncoding	Benign
8	38413059	G	A	G38413059A	FGFR1	NM_023110.2(FGFR1):c.*569C>T	noncoding	Benign
8	38413515	C	T	C38413515T	FGFR1	NM_023110.2(FGFR1):c.*113G>A	noncoding	Benign
8	38413633	G	A	G38413633A	FGFR1	NM_023110.2(FGFR1):c.2464C>T:p.Arg822Cys	coding	Benign/Likely_benign
8	38413673	G	C	G38413673C	FGFR1	NM_023110.3(FGFR1):c.2424C>G:p.Pro808=	coding	Benign
8	38413736	C	T	C38413736T	FGFR1	NM_023110.3(FGFR1):c.2361G>A:p.Thr787=	coding	Benign/Likely_benign
8	38413783	G	A	G38413783A	FGFR1	NM_023110.2(FGFR1):c.2314C>T:p.Pro772Ser	coding	Benign/Likely_benign
8	38413918	C	A	C38413918A	FGFR1	NM_015850.4(FGFR1):c.2286G>T:p.Gln762His	coding	Pathogenic
8	38413948	C	T	C38413948T	FGFR1	NM_023110.2(FGFR1):c.2262G>A:p.Leu754=	coding	Benign
8	38414029	G	A	G38414029A	FGFR1	NM_023110.2(FGFR1):c.2187-6C>T	noncoding	Benign
8	38414164	C	T	C38414164T	FGFR1	NM_023110.2(FGFR1):c.2174G>A:p.Cys725Tyr	coding	Pathogenic
8	38414174	G	A	G38414174A	FGFR1	NM_015850.4(FGFR1):c.2158C>T:p.Pro720Ser	coding	Pathogenic
8	38414186	G	C	G38414186C	FGFR1	NM_023110.2(FGFR1):c.2152C>G:p.Arg718Gly	coding	Pathogenic
8	38414254	G	A	G38414254A	FGFR1	NM_015850.4(FGFR1):c.2078C>T:p.Thr693Ile	coding	Pathogenic
8	38414286	C	T	C38414286T	FGFR1	NM_023110.2(FGFR1):c.2052G>A:p.Trp684Ter	coding	Pathogenic
8	38414611	A	G	A38414611G	FGFR1	NM_001174066.2(FGFR1):c.1729T>C:p.Trp577Arg	coding	Pathogenic
8	38414778	C	T	C38414778T	FGFR1	NM_023110.2(FGFR1):c.1977+1G>A	noncoding	Pathogenic
8	38414790	T	C	T38414790C	FGFR1	NM_023110.2(FGFR1):c.1966A>G:p.Lys656Glu	coding	Pathogenic/Likely_pathogenic
8	38414835	C	T	C38414835T	FGFR1	NM_023110.2(FGFR1):c.1921G>A:p.Asp641Asn	coding	Pathogenic
8	38414868	G	A	G38414868A	FGFR1	NM_023110.2(FGFR1):c.1888C>T:p.Leu630=	coding	Benign/Likely_benign
8	38414872	A	C	A38414872C	FGFR1	NM_023110.2(FGFR1):c.1884T>G:p.Asn628Lys	coding	Pathogenic
8	38414875	C	G	C38414875G	FGFR1	NM_023105.3(FGFR1):c.1614G>C:p.Arg538Ser	coding	Pathogenic/Likely_pathogenic
8	38414887	G	C	G38414887C	FGFR1	NM_023110.2(FGFR1):c.1869C>G:p.Asp623Glu	coding	Pathogenic
8	38414889	C	A	C38414889A	FGFR1	NM_023110.2(FGFR1):c.1867G>T:p.Asp623Tyr	coding	Pathogenic
8	38414892	G	A	G38414892A	FGFR1	NM_023110.2(FGFR1):c.1864C>T:p.Arg622Ter	coding	Pathogenic/Likely_pathogenic
8	38414892	G	C	G38414892C	FGFR1	NM_023110.2(FGFR1):c.1864C>G:p.Arg622Gly	coding	Pathogenic
8	38415885	A	C	A38415885C	FGFR1	NM_023110.2(FGFR1):c.1839T>G:p.Tyr613Ter	coding	Pathogenic
8	38415899	G	A	G38415899A	FGFR1	NM_023110.2(FGFR1):c.1825C>T:p.Arg609Ter	coding	Pathogenic
8	38415901	G	T	G38415901T	FGFR1	NM_023110.3(FGFR1):c.1823C>A:p.Ala608Asp	coding	Pathogenic
8	38417331	G	T	G38417331T	FGFR1	NM_023110.2(FGFR1):c.1638C>A:p.Asn546Lys	coding	Pathogenic
8	38417365	A	T	A38417365T	FGFR1	NM_023110.2(FGFR1):c.1604T>A:p.Met535Lys	coding	Pathogenic
8	38417380	G	T	G38417380T	FGFR1	NM_023110.2(FGFR1):c.1589C>A:p.Ser530Ter	coding	Pathogenic
8	38417429	C	T	C38417429T	FGFR1	NM_023110.3(FGFR1):c.1553-13G>A	noncoding	Benign/Likely_benign
8	38417954	C	G	C38417954G	FGFR1	NM_023110.2(FGFR1):c.1468G>C:p.Gly490Arg	coding	Pathogenic/Likely_pathogenic
8	38417954	C	T	C38417954T	FGFR1	NM_015850.4(FGFR1):c.1462G>A:p.Gly488Arg	coding	Pathogenic
8	38417962	C	T	C38417962T	FGFR1	NM_023110.2(FGFR1):c.1460G>A:p.Gly487Asp	coding	Pathogenic
8	38417992	C	T	C38417992T	FGFR1	NM_023110.2(FGFR1):c.1431-1G>A	coding	Pathogenic
8	38418227	C	A	C38418227A	FGFR1	NM_023110.3(FGFR1):c.1430+1G>T	noncoding	Pathogenic
8	38418227	C	T	C38418227T	FGFR1	NM_023110.2(FGFR1):c.1430+1G>A	noncoding	Pathogenic
8	38418272	C	T	C38418272T	FGFR1	NM_023110.2(FGFR1):c.1386G>A:p.Glu462=	coding	Benign/Likely_benign
8	38418290	C	A	C38418290A	FGFR1	NM_023110.2(FGFR1):c.1368G>T:p.Met456Ile	coding	Benign/Likely_benign
8	38419548	C	T	C38419548T	FGFR1	NM_023110.3(FGFR1):c.1269G>A:p.Leu423=	coding	Benign
8	38419676	A	G	A38419676G	FGFR1	NM_015850.4(FGFR1):c.1135T>C:p.Cys379Arg	coding	Pathogenic
8	38419696	T	C	T38419696C	FGFR1	NM_015850.4(FGFR1):c.1115A>G:p.Tyr372Cys	coding	Pathogenic
8	38419748	G	A	G38419748A	FGFR1	NM_023110.2(FGFR1):c.1082-13C>T	noncoding	Benign/Likely_benign
8	38421836	C	T	C38421836T	FGFR1	NM_023110.2(FGFR1):c.1042G>A:p.Gly348Arg	coding	Pathogenic
8	38421889	T	A	T38421889A	FGFR1	NM_015850.4(FGFR1):c.983A>T:p.Asn328Ile	coding	Pathogenic
8	38424565	C	T	C38424565T	FGFR1	NM_023110.2(FGFR1):c.880G>A:p.Glu294Lys	coding	Pathogenic
8	38424655	T	G	T38424655G	FGFR1	NM_015850.4(FGFR1):c.784A>C:p.Asn262His	coding	Pathogenic
8	38424658	C	T	C38424658T	FGFR1	NM_023110.2(FGFR1):c.787G>A:p.Ala263Thr	coding	Benign/Likely_benign
8	38424690	G	C	G38424690C	FGFR1	NM_023110.2(FGFR1):c.755C>G:p.Pro252Arg	coding	Pathogenic
8	38427942	G	A	G38427942A	FGFR1	NM_023110.2(FGFR1):c.600C>T:p.Asp200=	coding	Benign
8	38427970	A	G	A38427970G	FGFR1	NM_023110.2(FGFR1):c.572T>C:p.Leu191Ser	coding	Pathogenic
8	38427977	G	A	G38427977A	FGFR1	NM_023110.2(FGFR1):c.565C>T:p.Arg189Cys	coding	Pathogenic
8	38428043	C	A	C38428043A	FGFR1	NM_015850.4(FGFR1):c.493G>T:p.Ala165Ser	coding	Pathogenic
8	38428048	A	G	A38428048G	FGFR1	NM_023110.2(FGFR1):c.494T>C:p.Leu165Ser	coding	Pathogenic
8	38428088	C	T	C38428088T	FGFR1	NM_023110.2(FGFR1):c.454G>A:p.Ala152Thr	coding	Benign
8	38428100	G	A	G38428100A	FGFR1	NM_023110.2(FGFR1):c.449-7C>T	noncoding	Benign/Likely_benign
8	38428102	G	C	G38428102C	FGFR1	NM_023110.2(FGFR1):c.449-9C>G	noncoding	Benign/Likely_benign
8	38428419	C	T	C38428419T	FGFR1	NM_023110.2(FGFR1):c.375G>A:p.Ser125=	coding	Benign
8	38428442	G	A	G38428442A	FGFR1	NM_023110.3(FGFR1):c.359-7C>T	noncoding	Benign
8	38428448	G	C	G38428448C	FGFR1	NM_023110.2(FGFR1):c.359-13C>G	noncoding	Benign/Likely_benign
8	38429695	G	A	G38429695A	FGFR1	NM_023110.2(FGFR1):c.345C>T:p.Ser115=	coding	Benign
8	38429704	G	A	G38429704A	FGFR1	NM_023110.2(FGFR1):c.336C>T:p.Thr112=	coding	Benign/Likely_benign
8	38429720	G	A	G38429720A	FGFR1	NM_023110.2(FGFR1):c.320C>T:p.Ser107Leu	coding	Benign/Likely_benign
8	38429736	C	T	C38429736T	FGFR1	NM_023110.2(FGFR1):c.304G>A:p.Val102Ile	coding	Benign
8	38429766	C	T	C38429766T	FGFR1	NM_023110.3(FGFR1):c.274G>A:p.Val92Met	coding	Benign/Likely_benign
8	38429826	G	A	G38429826A	FGFR1	NM_023110.2(FGFR1):c.214C>T:p.Gln72Ter	coding	Pathogenic/Likely_pathogenic
8	38429898	C	T	C38429898T	FGFR1	NM_023105.3(FGFR1):c.92-1463G>A	coding	Pathogenic
8	38457355	C	T	C38457355T	FGFR1	NM_023110.2(FGFR1):c.91+1G>A	noncoding	Pathogenic
8	38457372	C	T	C38457372T	FGFR1	NM_023110.2(FGFR1):c.75G>A:p.Pro25=	coding	Benign/Likely_benign
8	38468016	C	T	C38468016T	FGFR1	NM_023110.2(FGFR1):c.-124G>A	noncoding	Benign
8	38468101	C	G	C38468101G	FGFR1	NM_023110.3(FGFR1):c.-209G>C	noncoding	Benign/Likely_benign
8	38468178	G	A	G38468178A	FGFR1	NM_023110.2(FGFR1):c.-286C>T	noncoding	Benign/Likely_benign
8	38468250	G	A	G38468250A	FGFR1	NM_023110.2(FGFR1):c.-358C>T	noncoding	Benign
8	38468277	C	T	C38468277T	FGFR1	NM_023110.2(FGFR1):c.-385G>A	noncoding	Benign
8	38468528	G	A	G38468528A	FGFR1	NM_023110.2(FGFR1):c.-636C>T	noncoding	Benign
8	38468591	G	A	G38468591A	FGFR1	NM_023110.2(FGFR1):c.-699C>T	noncoding	Benign
8	38468643	G	A	G38468643A	FGFR1	NM_023110.2(FGFR1):c.-751C>T	noncoding	Benign
8	38468773	C	T	C38468773T	FGFR1	NM_023110.2(FGFR1):c.-881G>A	noncoding	Benign
8	38512636	A	G	A38512636G	C8orf86	NM_001369355.1(C8orf86):c.*35T>C	coding	Benign
8	38819724	G	A	G38819724A	TACC1	NM_006283.3(TACC1):c.480G>A:p.Thr160=	coding	Benign
8	38820389	C	T	C38820389T	TACC1	NM_006283.3(TACC1):c.1145C>T:p.Ser382Phe	coding	Benign
8	38997141	C	A	C38997141A	ADAM9	NM_003816.3(ADAM9):c.78C>A:p.Val26=	coding	Benign
8	39011657	G	A	G39011657A	ADAM9	NM_003816.3(ADAM9):c.196-1G>A	noncoding	Pathogenic
8	39011688	G	A	G39011688A	ADAM9	NM_003816.3(ADAM9):c.226G>A:p.Glu76Lys	coding	Benign/Likely_benign
8	39017211	A	G	A39017211G	ADAM9	NM_003816.3(ADAM9):c.411-8A>G	noncoding	Pathogenic
8	39017298	C	T	C39017298T	ADAM9	NM_003816.3(ADAM9):c.490C>T:p.Arg164Ter	coding	Pathogenic
8	39018885	T	G	T39018885G	ADAM9	NM_003816.3(ADAM9):c.639T>G:p.Tyr213Ter	coding	Pathogenic
8	39021671	C	T	C39021671T	ADAM9	NM_003816.3(ADAM9):c.701C>T:p.Ala234Val	coding	Benign
8	39023177	C	T	C39023177T	ADAM9	NM_003816.3(ADAM9):c.766C>T:p.Arg256Ter	coding	Pathogenic
8	39023298	G	A	G39023298A	ADAM9	NM_003816.3(ADAM9):c.887G>A:p.Arg296Gln	coding	Benign/Likely_benign
8	39023333	T	A	T39023333A	ADAM9	NM_003816.3(ADAM9):c.914+8T>A	noncoding	Benign/Likely_benign
8	39026751	C	T	C39026751T	ADAM9	NM_003816.3(ADAM9):c.1071C>T:p.His357=	coding	Benign/Likely_benign
8	39026767	T	A	T39026767A	ADAM9	NM_003816.3(ADAM9):c.1087T>A:p.Cys363Ser	coding	Pathogenic
8	39026811	G	A	G39026811A	ADAM9	NM_003816.3(ADAM9):c.1130+1G>A	coding	Pathogenic
8	39042033	A	G	A39042033G	ADAM9	NM_003816.3(ADAM9):c.1218A>G:p.Pro406=	coding	Benign
8	39042051	T	C	T39042051C	ADAM9	NM_003816.3(ADAM9):c.1236T>C:p.Tyr412=	coding	Benign/Likely_benign
8	39054572	G	A	G39054572A	ADAM9	NM_003816.3(ADAM9):c.1394G>A:p.Arg465Gln	coding	Benign/Likely_benign
8	39055575	A	G	A39055575G	ADAM9	NM_003816.3(ADAM9):c.1396-2A>G	noncoding	Pathogenic
8	39055636	C	A	C39055636A	ADAM9	NM_003816.3(ADAM9):c.1455C>A:p.Tyr485Ter	coding	Pathogenic
8	39077258	G	A	G39077258A	ADAM9	NM_003816.3(ADAM9):c.1728G>A:p.Glu576=	coding	Benign
8	39082973	T	A	T39082973A	ADAM9	NM_003816.3(ADAM9):c.1968T>A:p.Cys656Ter	coding	Pathogenic
8	39913932	G	A	G39913932A	IDO1	NM_002164.6(IDO1):c.10G>A:p.Ala4Thr	coding	Benign
8	39920102	C	T	C39920102T	IDO1	NM_002164.6(IDO1):c.425C>T:p.Pro142Leu	coding	Benign
8	39927927	G	A	G39927927A	IDO1	NM_002164.6(IDO1):c.954G>A:p.Glu318=	coding	Benign
8	41308916	G	A	G41308916A	SFRP1	NM_003012.5(SFRP1):c.244C>T:p.Leu82=	coding	Benign
8	41309004	G	A	G41309004A	SFRP1	NM_003012.5(SFRP1):c.156C>T:p.Tyr52=	coding	Benign
8	41609665	A	G	A41609665G	GPAT4	NM_178819.4(GPAT4):c.246A>G:p.Ala82=	coding	Benign
8	41612000	C	T	C41612000T	GPAT4	NM_178819.4(GPAT4):c.701+8C>T	noncoding	Benign
8	41646701	T	A	T41646701A	NKX6-3	NM_001364841.2(NKX6-3):c.553-7A>T	noncoding	Benign
8	41647283	C	A	C41647283A	NKX6-3	NM_001364841.2(NKX6-3):c.553-589G>T	coding	Benign
8	41653638	A	C	A41653638C	ANK1	NM_000037.4(ANK1):c.*2152T>G	noncoding	Benign
8	41653768	C	T	C41653768T	ANK1	NM_000037.4(ANK1):c.*2022G>A	noncoding	Benign/Likely_benign
8	41653891	C	T	C41653891T	ANK1	NM_000037.4(ANK1):c.*1899G>A	noncoding	Benign/Likely_benign
8	41654181	G	C	G41654181C	ANK1	NM_000037.4(ANK1):c.*1609C>G	noncoding	Benign/Likely_benign
8	41655552	A	G	A41655552G	ANK1	NM_000037.4(ANK1):c.*238T>C	noncoding	Benign/Likely_benign
8	41661785	G	A	G41661785A	ANK1	NM_000037.4(ANK1):c.5544+91C>T	noncoding	Benign/Likely_benign
8	41661797	G	A	G41661797A	ANK1	NM_000037.4(ANK1):c.5544+79C>T	noncoding	Benign
8	41661830	C	T	C41661830T	ANK1	NM_000037.4(ANK1):c.5544+46G>A	coding	Benign
8	41661923	G	A	G41661923A	ANK1	NM_000037.4(ANK1):c.5497C>T:p.Arg1833Ter	coding	Pathogenic
8	41661944	A	G	A41661944G	ANK1	NM_000037.4(ANK1):c.5479-3T>C	noncoding	Benign
8	41664889	G	C	G41664889C	ANK1	NM_000037.4(ANK1):c.5395-1147C>G	coding	Benign
8	41668396	C	T	C41668396T	ANK1	NM_000037.4(ANK1):c.5265G>A:p.Val1755=	coding	Benign
8	41668498	C	T	C41668498T	ANK1	NM_000037.4(ANK1):c.5163G>A:p.Trp1721Ter	coding	Pathogenic
8	41668509	G	A	G41668509A	ANK1	NM_000037.4(ANK1):c.5152C>T:p.Gln1718Ter	coding	Pathogenic
8	41668598	G	A	G41668598A	ANK1	NM_000037.4(ANK1):c.5097-34C>T	noncoding	Benign
8	41672338	A	G	A41672338G	ANK1	NM_000037.4(ANK1):c.5096+16T>C	noncoding	Benign
8	41672445	C	A	C41672445A	ANK1	NM_000037.4(ANK1):c.5005G>T:p.Glu1669Ter	coding	Pathogenic
8	41684575	G	A	G41684575A	ANK1	NM_000037.4(ANK1):c.4506C>T:p.Arg1502=	coding	Benign/Likely_benign
8	41684619	G	A	G41684619A	ANK1	NM_000037.4(ANK1):c.4462C>T:p.Arg1488Ter	coding	Pathogenic
8	41686157	G	A	G41686157A	ANK1	NM_000037.4(ANK1):c.4385C>T:p.Ala1462Val	coding	Benign/Likely_benign
8	41686236	G	A	G41686236A	ANK1	NM_000037.4(ANK1):c.4306C>T:p.Arg1436Ter	coding	Pathogenic
8	41688541	G	A	G41688541A	ANK1	NM_000037.4(ANK1):c.4153C>T:p.Arg1385Ter	coding	Pathogenic
8	41690230	G	A	G41690230A	ANK1	NM_000037.4(ANK1):c.4101C>T:p.Ala1367=	coding	Benign
8	41690485	T	C	T41690485C	ANK1	NM_000037.4(ANK1):c.3973A>G:p.Met1325Val	coding	Benign
8	41692693	C	T	C41692693T	ANK1	NM_000037.4(ANK1):c.3813G>A:p.Glu1271=	coding	Benign/Likely_benign
8	41693179	C	T	C41693179T	ANK1	NM_000037.4(ANK1):c.3555G>A:p.Trp1185Ter	coding	Pathogenic
8	41693944	G	A	G41693944A	ANK1	NM_000037.4(ANK1):c.3486C>T:p.Ser1162=	coding	Benign
8	41694695	G	A	G41694695A	ANK1	NM_000037.4(ANK1):c.3224C>T:p.Thr1075Ile	coding	Benign/Likely_benign
8	41695168	C	G	C41695168G	ANK1	NM_000037.4(ANK1):c.3115+9G>C	noncoding	Benign
8	41695322	G	A	G41695322A	ANK1	NM_000037.4(ANK1):c.2970C>T:p.Ile990=	coding	Benign
8	41696410	C	G	C41696410G	ANK1	NM_000037.4(ANK1):c.2913G>C:p.Leu971=	coding	Benign
8	41696497	C	T	C41696497T	ANK1	NM_000037.4(ANK1):c.2826G>A:p.Thr942=	coding	Benign
8	41696578	C	T	C41696578T	ANK1	NM_000037.4(ANK1):c.2745G>A:p.Val915=	coding	Benign
8	41696588	C	T	C41696588T	ANK1	NM_001142446.2(ANK1):c.2859-1G>A	coding	Pathogenic
8	41702091	G	A	G41702091A	ANK1	NM_000037.4(ANK1):c.2349C>T:p.Thr783=	coding	Benign
8	41704125	G	C	G41704125C	ANK1	NM_000037.4(ANK1):c.2211C>G:p.Pro737=	coding	Benign/Likely_benign
8	41706167	G	A	G41706167A	ANK1	NM_000037.4(ANK1):c.2073C>T:p.Gly691=	coding	Benign
8	41706211	G	A	G41706211A	ANK1	NM_000037.4(ANK1):c.2029C>T:p.Gln677Ter	coding	Pathogenic
8	41708920	C	T	C41708920T	ANK1	NM_000037.4(ANK1):c.1856G>A:p.Arg619His	coding	Benign/Likely_benign
8	41708992	C	T	C41708992T	ANK1	NM_000037.4(ANK1):c.1801-17G>A	noncoding	Pathogenic/Likely_pathogenic
8	41714174	G	T	G41714174T	ANK1	NM_000037.4(ANK1):c.1782C>A:p.Ser594=	coding	Benign/Likely_benign
8	41714256	T	G	T41714256G	ANK1	NM_000037.4(ANK1):c.1702-2A>C	noncoding	Pathogenic
8	41715787	C	T	C41715787T	ANK1	NM_000037.4(ANK1):c.1467G>A:p.Leu489=	coding	Benign
8	41717037	C	T	C41717037T	ANK1	NM_000037.4(ANK1):c.1320G>A:p.Pro440=	coding	Benign/Likely_benign
8	41719787	G	A	G41719787A	ANK1	NM_000037.4(ANK1):c.981C>T:p.Tyr327=	coding	Benign
8	41723118	T	C	T41723118C	ANK1	NM_000037.4(ANK1):c.909+7A>G	noncoding	Benign/Likely_benign
8	41725743	C	G	C41725743G	ANK1	NM_000037.4(ANK1):c.612+18G>C	noncoding	Benign
8	41725776	C	T	C41725776T	ANK1	NM_000037.4(ANK1):c.597G>A:p.Pro199=	coding	Benign
8	41725884	G	A	G41725884A	ANK1	NM_000037.4(ANK1):c.489C>T:p.Leu163=	coding	Benign/Likely_benign
8	41725923	T	C	T41725923C	ANK1	NM_000037.4(ANK1):c.450A>G:p.Val150=	coding	Benign/Likely_benign
8	41727920	G	A	G41727920A	ANK1	NM_000037.4(ANK1):c.315C>T:p.Asn105=	coding	Benign
8	41734016	C	G	C41734016G	ANK1	NM_000037.4(ANK1):c.183G>C:p.Val61=	coding	Benign/Likely_benign
8	41797646	A	G	A41797646G	ANK1	NM_001142446.2(ANK1):c.127-39509T>C	noncoding	Benign
8	41932226	G	A	G41932226A	KAT6A	NM_006766.5(KAT6A):c.5994C>T:p.Asn1998=	coding	Benign/Likely_benign
8	41932307	G	A	G41932307A	KAT6A	NM_006766.5(KAT6A):c.5913C>T:p.Asn1971=	coding	Benign/Likely_benign
8	41932581	G	T	G41932581T	KAT6A	NM_006766.5(KAT6A):c.5639C>A:p.Ser1880Ter	coding	Pathogenic
8	41932841	C	T	C41932841T	KAT6A	NM_006766.5(KAT6A):c.5379G>A:p.Gln1793=	coding	Benign
8	41933264	T	C	T41933264C	KAT6A	NM_006766.5(KAT6A):c.4956A>G:p.Pro1652=	coding	Benign/Likely_benign
8	41933275	G	A	G41933275A	KAT6A	NM_006766.5(KAT6A):c.4945C>T:p.Gln1649Ter	coding	Pathogenic
8	41933306	G	A	G41933306A	KAT6A	NM_006766.5(KAT6A):c.4914C>T:p.Cys1638=	coding	Benign
8	41933348	G	C	G41933348C	KAT6A	NM_006766.5(KAT6A):c.4872C>G:p.Val1624=	coding	Benign
8	41933441	C	T	C41933441T	KAT6A	NM_006766.5(KAT6A):c.4779G>A:p.Ser1593=	coding	Benign
8	41933575	C	T	C41933575T	KAT6A	NM_006766.5(KAT6A):c.4645G>A:p.Gly1549Ser	coding	Pathogenic
8	41933765	G	A	G41933765A	KAT6A	NM_006766.5(KAT6A):c.4455C>T:p.Ser1485=	coding	Benign
8	41933839	G	A	G41933839A	KAT6A	NM_006766.5(KAT6A):c.4381C>T:p.Gln1461Ter	coding	Pathogenic
8	41933896	C	T	C41933896T	KAT6A	NM_006766.5(KAT6A):c.4324G>A:p.Ala1442Thr	coding	Benign/Likely_benign
8	41934151	G	A	G41934151A	KAT6A	NM_006766.5(KAT6A):c.4069C>T:p.Gln1357Ter	coding	Pathogenic
8	41934247	C	A	C41934247A	KAT6A	NM_006766.5(KAT6A):c.3973G>T:p.Glu1325Ter	coding	Pathogenic
8	41934292	G	A	G41934292A	KAT6A	NM_006766.5(KAT6A):c.3928C>T:p.Gln1310Ter	coding	Pathogenic
8	41934517	C	A	C41934517A	KAT6A	NM_006766.5(KAT6A):c.3703G>T:p.Glu1235Ter	coding	Pathogenic
8	41934559	C	A	C41934559A	KAT6A	NM_006766.5(KAT6A):c.3661G>T:p.Glu1221Ter	coding	Pathogenic
8	41934560	G	A	G41934560A	KAT6A	NM_006766.5(KAT6A):c.3660C>T:p.Pro1220=	coding	Benign
8	41934643	C	T	C41934643T	KAT6A	NM_006766.5(KAT6A):c.3577G>A:p.Val1193Ile	coding	Benign
8	41934667	G	A	G41934667A	KAT6A	NM_006766.5(KAT6A):c.3553C>T:p.Gln1185Ter	coding	Pathogenic
8	41934835	G	A	G41934835A	KAT6A	NM_006766.5(KAT6A):c.3385C>T:p.Arg1129Ter	coding	Pathogenic
8	41934868	C	T	C41934868T	KAT6A	NM_006766.5(KAT6A):c.3353-1G>A	coding	Pathogenic
8	41937416	C	T	C41937416T	KAT6A	NM_006766.5(KAT6A):c.3192G>A:p.Thr1064=	coding	Benign
8	41937426	A	C	A41937426C	KAT6A	NM_006766.5(KAT6A):c.3182T>G:p.Leu1061Ter	coding	Pathogenic
8	41937538	G	A	G41937538A	KAT6A	NM_006766.5(KAT6A):c.3070C>T:p.Arg1024Ter	coding	Pathogenic
8	41937553	G	A	G41937553A	KAT6A	NM_006766.5(KAT6A):c.3055C>T:p.Arg1019Ter	coding	Pathogenic
8	41940841	C	T	C41940841T	KAT6A	NM_006766.5(KAT6A):c.3039+1G>A	noncoding	Pathogenic
8	41940847	G	A	G41940847A	KAT6A	NM_006766.5(KAT6A):c.3034C>T:p.Arg1012Ter	coding	Pathogenic
8	41940899	C	T	C41940899T	KAT6A	NM_006766.5(KAT6A):c.2982G>A:p.Pro994=	coding	Benign
8	41941012	C	A	C41941012A	KAT6A	NM_006766.5(KAT6A):c.2869G>T:p.Ala957Ser	coding	Benign
8	41941187	T	C	T41941187C	KAT6A	NM_006766.5(KAT6A):c.2694A>G:p.Gln898=	coding	Benign
8	41941394	T	C	T41941394C	KAT6A	NM_006766.5(KAT6A):c.2487A>G:p.Val829=	coding	Benign
8	41947753	T	A	T41947753A	KAT6A	NM_006766.5(KAT6A):c.1900A>T:p.Lys634Ter	coding	Pathogenic
8	41949371	C	T	C41949371T	KAT6A	NM_006766.5(KAT6A):c.1599-8G>A	noncoding	Benign
8	41949372	G	A	G41949372A	KAT6A	NM_006766.5(KAT6A):c.1599-9C>T	noncoding	Benign
8	41955325	G	T	G41955325T	KAT6A	NM_006766.5(KAT6A):c.1569C>A:p.Tyr523Ter	coding	Pathogenic
8	41974709	G	A	G41974709A	KAT6A	NM_006766.5(KAT6A):c.1477C>T:p.Leu493=	coding	Benign/Likely_benign
8	41977214	C	T	C41977214T	KAT6A	NM_006766.5(KAT6A):c.1157G>A:p.Arg386Gln	coding	Benign
8	41977275	G	A	G41977275A	KAT6A	NM_006766.5(KAT6A):c.1096C>T:p.Arg366Ter	coding	Pathogenic
8	41978736	G	A	G41978736A	KAT6A	NM_006766.5(KAT6A):c.949C>T:p.Arg317Ter	coding	Pathogenic/Likely_pathogenic
8	41978754	G	A	G41978754A	KAT6A	NM_006766.5(KAT6A):c.931C>T:p.Arg311Ter	coding	Pathogenic
8	41980897	G	A	G41980897A	KAT6A	NM_006766.5(KAT6A):c.856C>T:p.Arg286Ter	coding	Pathogenic
8	41981859	G	A	G41981859A	KAT6A	NM_006766.5(KAT6A):c.805C>T:p.Arg269Ter	coding	Pathogenic
8	41987506	G	A	G41987506A	KAT6A	NM_006766.5(KAT6A):c.658C>T:p.Arg220Ter	coding	Pathogenic
8	42048373	C	A	C42048373A	KAT6A	NM_006766.5(KAT6A):c.600+5G>T	noncoding	Benign
8	42048536	G	A	G42048536A	KAT6A	NM_006766.5(KAT6A):c.442C>T:p.Arg148Ter	coding	Pathogenic
8	42048577	A	G	A42048577G	KAT6A	NM_006766.5(KAT6A):c.401T>C:p.Leu134Ser	coding	Benign
8	42176001	G	A	G42176001A	PLAT	NM_000930.5(PLAT):c.1681C>T:p.Arg561Ter	coding	Benign
8	42176143	C	T	C42176143T	PLAT	NM_000930.5(PLAT):c.1539G>A:p.Ser513=	coding	Benign
8	42178948	A	T	A42178948T	PLAT	NM_000930.5(PLAT):c.1479T>A:p.Ala493=	coding	Benign
8	42180297	G	C	G42180297C	PLAT	NM_000930.5(PLAT):c.1167C>G:p.Val389=	coding	Benign
8	42180297	G	T	G42180297T	PLAT	NM_000930.5(PLAT):c.1167C>A:p.Val389=	coding	Benign
8	42181965	C	T	C42181965T	PLAT	NM_000930.5(PLAT):c.861G>A:p.Thr287=	coding	Benign
8	42181989	G	A	G42181989A	PLAT	NM_000930.5(PLAT):c.837C>T:p.His279=	coding	Benign
8	42182832	G	A	G42182832A	PLAT	NM_000930.5(PLAT):c.690C>T:p.Thr230=	coding	Benign
8	42306345	A	G	A42306345G	IKBKB	NM_001556.3(IKBKB):c.480A>G:p.Leu160=	coding	Benign
8	42308940	G	A	G42308940A	IKBKB	NM_001556.3(IKBKB):c.607G>A:p.Val203Ile	coding	Pathogenic
8	42314361	T	C	T42314361C	IKBKB	NM_001556.3(IKBKB):c.732T>C:p.Val244=	coding	Benign
8	42316223	C	T	C42316223T	IKBKB	NM_001556.3(IKBKB):c.814C>T:p.Arg272Ter	coding	Pathogenic
8	42316265	C	T	C42316265T	IKBKB	NM_001556.3(IKBKB):c.856C>T:p.Arg286Ter	coding	Pathogenic
8	42316288	G	A	G42316288A	IKBKB	NM_001556.3(IKBKB):c.879G>A:p.Thr293=	coding	Benign
8	42316862	G	A	G42316862A	IKBKB	NM_001556.3(IKBKB):c.1083G>A:p.Leu361=	coding	Benign
8	42316898	C	T	C42316898T	IKBKB	NM_001556.3(IKBKB):c.1119C>T:p.Asp373=	coding	Benign
8	42317785	A	T	A42317785T	IKBKB	NM_001556.3(IKBKB):c.1240+14A>T	noncoding	Benign
8	42319372	C	T	C42319372T	IKBKB	NM_001556.3(IKBKB):c.1467C>T:p.Ser489=	coding	Benign
8	42319409	G	A	G42319409A	IKBKB	NM_001556.3(IKBKB):c.1504G>A:p.Glu502Lys	coding	Benign
8	42319645	G	A	G42319645A	IKBKB	NM_001556.3(IKBKB):c.1577G>A:p.Arg526Gln	coding	Benign
8	42320762	C	T	C42320762T	IKBKB	NM_001556.3(IKBKB):c.1606C>T:p.Arg536Trp	coding	Benign
8	42320833	G	T	G42320833T	IKBKB	NM_001556.3(IKBKB):c.1677G>T:p.Thr559=	coding	Benign
8	42321909	A	C	A42321909C	IKBKB	NM_001556.3(IKBKB):c.1702A>C:p.Arg568=	coding	Benign/Likely_benign
8	42322045	T	C	T42322045C	IKBKB	NM_001556.3(IKBKB):c.1739-9T>C	noncoding	Benign
8	42326011	G	A	G42326011A	IKBKB	NM_001556.3(IKBKB):c.2028G>A:p.Met676Ile	coding	Benign
8	42329137	G	A	G42329137A	IKBKB	NM_001556.3(IKBKB):c.2128G>A:p.Ala710Thr	coding	Benign
8	42416746	G	C	G42416746C	SLC20A2	NM_001257180.2(SLC20A2):c.*1057C>G	noncoding	Benign
8	42416877	G	A	G42416877A	SLC20A2	NM_001257180.2(SLC20A2):c.*926C>T	noncoding	Benign
8	42417233	C	A	C42417233A	SLC20A2	NM_001257180.2(SLC20A2):c.*570G>T	noncoding	Benign
8	42417423	G	A	G42417423A	SLC20A2	NM_001257180.2(SLC20A2):c.*380C>T	noncoding	Benign
8	42417442	T	C	T42417442C	SLC20A2	NM_001257180.2(SLC20A2):c.*361A>G	noncoding	Benign
8	42417540	T	G	T42417540G	SLC20A2	NM_001257180.2(SLC20A2):c.*263A>C	noncoding	Benign
8	42417683	G	C	G42417683C	SLC20A2	NM_001257180.2(SLC20A2):c.*120C>G	noncoding	Benign
8	42417690	T	A	T42417690A	SLC20A2	NM_001257180.2(SLC20A2):c.*113A>T	noncoding	Benign
8	42417691	C	A	C42417691A	SLC20A2	NM_001257180.2(SLC20A2):c.*112G>T	noncoding	Benign
8	42417828	A	T	A42417828T	SLC20A2	NM_001257180.2(SLC20A2):c.1934T>A:p.Met645Lys	coding	Benign
8	42417851	G	A	G42417851A	SLC20A2	NM_001257180.2(SLC20A2):c.1911C>T:p.Ser637=	coding	Benign
8	42417950	G	A	G42417950A	SLC20A2	NM_001257180.2(SLC20A2):c.1812C>T:p.Ala604=	coding	Benign/Likely_benign
8	42417960	G	A	G42417960A	SLC20A2	NM_001257180.2(SLC20A2):c.1802C>T:p.Ser601Leu	coding	Pathogenic
8	42417960	G	C	G42417960C	SLC20A2	NM_001257180.2(SLC20A2):c.1802C>G:p.Ser601Trp	coding	Pathogenic
8	42428768	G	A	G42428768A	SLC20A2	NM_001257180.2(SLC20A2):c.1784C>T:p.Thr595Met	coding	Pathogenic
8	42428829	C	A	C42428829A	SLC20A2	NM_001257180.2(SLC20A2):c.1723G>T:p.Glu575Ter	coding	Pathogenic
8	42430169	C	T	C42430169T	SLC20A2	NM_001257180.2(SLC20A2):c.1604G>A:p.Trp535Ter	coding	Pathogenic
8	42430193	G	A	G42430193A	SLC20A2	NM_001257180.2(SLC20A2):c.1580C>T:p.Thr527Met	coding	Benign
8	42437020	C	T	C42437020T	SLC20A2	NM_001257180.2(SLC20A2):c.1492G>A:p.Gly498Arg	coding	Pathogenic
8	42437074	C	T	C42437074T	SLC20A2	NM_001257180.2(SLC20A2):c.1438G>A:p.Ala480Thr	coding	Benign
8	42437113	G	A	G42437113A	SLC20A2	NM_001257180.2(SLC20A2):c.1399C>T:p.Arg467Ter	coding	Pathogenic
8	42437137	C	A	C42437137A	SLC20A2	NM_001257180.2(SLC20A2):c.1375G>T:p.Glu459Ter	coding	Pathogenic
8	42437230	G	A	G42437230A	SLC20A2	NM_001257180.2(SLC20A2):c.1282C>T:p.Leu428=	coding	Benign/Likely_benign
8	42437258	G	A	G42437258A	SLC20A2	NM_001257180.2(SLC20A2):c.1254C>T:p.Gly418=	coding	Benign
8	42437378	C	A	C42437378A	SLC20A2	NM_001257180.2(SLC20A2):c.1134G>T:p.Arg378=	coding	Benign
8	42437411	G	C	G42437411C	SLC20A2	NM_001257180.2(SLC20A2):c.1101C>G:p.Pro367=	coding	Benign
8	42437501	G	T	G42437501T	SLC20A2	NM_001257180.2(SLC20A2):c.1011C>A:p.Thr337=	coding	Benign
8	42437504	G	A	G42437504A	SLC20A2	NM_001257180.2(SLC20A2):c.1008C>T:p.His336=	coding	Benign
8	42437541	G	T	G42437541T	SLC20A2	NM_001257180.2(SLC20A2):c.971C>A:p.Ser324Ter	coding	Pathogenic
8	42437579	T	C	T42437579C	SLC20A2	NM_001257180.2(SLC20A2):c.935-2A>G	noncoding	Pathogenic
8	42437589	T	G	T42437589G	SLC20A2	NM_001257180.2(SLC20A2):c.935-12A>C	noncoding	Benign
8	42439451	G	A	G42439451A	SLC20A2	NM_001257180.2(SLC20A2):c.933C>T:p.Tyr311=	coding	Benign/Likely_benign
8	42439474	C	T	C42439474T	SLC20A2	NM_001257180.2(SLC20A2):c.910G>A:p.Gly304Ser	coding	Benign
8	42439475	C	T	C42439475T	SLC20A2	NM_001257180.2(SLC20A2):c.909G>A:p.Ala303=	coding	Benign
8	42439535	G	A	G42439535A	SLC20A2	NM_001257180.2(SLC20A2):c.849C>T:p.Ser283=	coding	Benign
8	42439597	C	T	C42439597T	SLC20A2	NM_001257180.2(SLC20A2):c.787G>A:p.Val263Ile	coding	Benign
8	42439623	C	T	C42439623T	SLC20A2	NM_001257180.2(SLC20A2):c.761G>A:p.Arg254Gln	coding	Benign/Likely_benign
8	42465862	C	T	C42465862T	SLC20A2	NM_001257180.2(SLC20A2):c.345G>A:p.Thr115=	coding	Benign/Likely_benign
8	42465869	G	C	G42465869C	SLC20A2	NM_001257180.2(SLC20A2):c.338C>G:p.Ser113Ter	coding	Pathogenic
8	42465922	A	G	A42465922G	SLC20A2	NM_001257180.2(SLC20A2):c.290-5T>C	noncoding	Benign
8	42465930	G	T	G42465930T	SLC20A2	NM_001257180.2(SLC20A2):c.290-13C>A	noncoding	Benign
8	42472205	T	C	T42472205C	SLC20A2	NM_001257180.2(SLC20A2):c.186A>G:p.Leu62=	coding	Benign/Likely_benign
8	42472253	C	T	C42472253T	SLC20A2	NM_001257180.2(SLC20A2):c.138G>A:p.Gln46=	coding	Benign/Likely_benign
8	42472255	G	A	G42472255A	SLC20A2	NM_001257180.2(SLC20A2):c.136C>T:p.Gln46Ter	coding	Pathogenic
8	42472333	A	G	A42472333G	SLC20A2	NM_001257180.2(SLC20A2):c.58T>C:p.Leu20=	coding	Benign/Likely_benign
8	42541861	C	T	C42541861T	SLC20A2	NM_001135674.2(SMIM19):c.-517C>T	noncoding	Benign
8	42542090	T	A	T42542090A	SLC20A2	NM_001135674.2(SMIM19):c.-288T>A	noncoding	Benign
8	42542148	G	A	G42542148A	SLC20A2	NM_001135674.2(SMIM19):c.-230G>A	noncoding	Benign
8	42708739	C	T	C42708739T	CHRNB3	NM_000749.5(CHRNB3):c.75C>T:p.Ile25=	coding	Benign
8	42736592	A	G	A42736592G	CHRNB3	NM_000749.5(CHRNB3):c.1351A>G:p.Lys451Glu	coding	Benign
8	42756380	C	T	C42756380T	CHRNA6	NM_004198.3(CHRNA6):c.819G>A:p.Thr273=	coding	Benign
8	42756401	C	T	C42756401T	CHRNA6	NM_004198.3(CHRNA6):c.798G>A:p.Ser266=	coding	Benign
8	42756467	C	T	C42756467T	CHRNA6	NM_004198.3(CHRNA6):c.732G>A:p.Thr244=	coding	Benign
8	42765177	C	G	C42765177G	CHRNA6	NM_004198.3(CHRNA6):c.107G>C:p.Arg36Thr	coding	Benign
8	42836712	C	T	C42836712T	THAP1	NM_018105.3(THAP1):c.*1250G>A	noncoding	Benign
8	42836805	T	C	T42836805C	THAP1	NM_018105.3(THAP1):c.*1157A>G	noncoding	Benign
8	42837159	C	T	C42837159T	THAP1	NM_018105.3(THAP1):c.*803G>A	noncoding	Benign
8	42837217	C	A	C42837217A	THAP1	NM_018105.3(THAP1):c.*745G>T	noncoding	Benign
8	42837276	T	C	T42837276C	THAP1	NM_018105.3(THAP1):c.*686A>G	noncoding	Benign
8	42837507	T	C	T42837507C	THAP1	NM_018105.3(THAP1):c.*455A>G	noncoding	Benign
8	42837528	T	C	T42837528C	THAP1	NM_018105.3(THAP1):c.*434A>G	noncoding	Benign
8	42837665	T	C	T42837665C	THAP1	NM_018105.3(THAP1):c.*297A>G	noncoding	Benign
8	42837772	G	T	G42837772T	THAP1	NM_018105.3(THAP1):c.*190C>A	noncoding	Benign
8	42837827	A	T	A42837827T	THAP1	NM_018105.3(THAP1):c.*135T>A	noncoding	Benign
8	42837835	T	A	T42837835A	THAP1	NM_018105.3(THAP1):c.*127A>T	noncoding	Benign
8	42837836	A	T	A42837836T	THAP1	NM_018105.3(THAP1):c.*126T>A	noncoding	Benign
8	42837897	C	G	C42837897G	THAP1	NM_018105.3(THAP1):c.*65G>C	noncoding	Benign
8	42838027	C	T	C42838027T	THAP1	NM_018105.3(THAP1):c.577G>A:p.Val193Ile	coding	Benign
8	42838183	C	T	C42838183T	THAP1	NM_018105.3(THAP1):c.421G>A:p.Asp141Asn	coding	Benign/Likely_benign
8	42838273	G	A	G42838273A	THAP1	NM_018105.3(THAP1):c.331C>T:p.Gln111Ter	coding	Pathogenic
8	42838315	G	A	G42838315A	THAP1	NM_018105.3(THAP1):c.289C>T:p.Gln97Ter	coding	Pathogenic
8	42838340	A	T	A42838340T	THAP1	NM_018105.3(THAP1):c.268-4T>A	noncoding	Benign
8	42839187	T	C	T42839187C	THAP1	NM_018105.3(THAP1):c.266A>G:p.Lys89Arg	coding	Pathogenic
8	42843015	G	T	G42843015T	THAP1	NM_018105.3(THAP1):c.71+9C>A	noncoding	Benign/Likely_benign
8	42843025	T	C	T42843025C	THAP1	NM_018105.3(THAP1):c.70A>G:p.Lys24Glu	coding	Pathogenic
8	42843027	T	G	T42843027G	THAP1	NM_018105.3(THAP1):c.68A>C:p.His23Pro	coding	Pathogenic
8	42843033	G	A	G42843033A	THAP1	NM_018105.3(THAP1):c.62C>T:p.Ser21Phe	coding	Pathogenic/Likely_pathogenic
8	42843038	G	A	G42843038A	THAP1	NM_018105.3(THAP1):c.57C>T:p.Pro19=	coding	Benign/Likely_benign
8	42843048	T	C	T42843048C	THAP1	NM_018105.3(THAP1):c.47A>G:p.Lys16Arg	coding	Benign
8	42843070	C	A	C42843070A	THAP1	NM_018105.3(THAP1):c.25G>T:p.Gly9Cys	coding	Pathogenic
8	42843088	G	A	G42843088A	THAP1	NM_018105.3(THAP1):c.7C>T:p.Gln3Ter	coding	Pathogenic
8	42843142	G	A	G42843142A	THAP1	NM_018105.3(THAP1):c.-48C>T	noncoding	Benign
8	42843330	T	A	T42843330A	THAP1	NM_199003.1(THAP1):c.-236A>T	noncoding	Benign
8	42843331	C	A	C42843331A	THAP1	NM_199003.1(THAP1):c.-237G>T	noncoding	Benign
8	42843334	C	T	C42843334T	THAP1	NM_018105.2(THAP1):c.-240G>A	noncoding	Benign
8	42856341	G	A	G42856341A	RNF170	NM_030954.4(RNF170):c.595C>T:p.Arg199Cys	coding	Pathogenic
8	42865438	C	T	C42865438T	RNF170	NM_030954.4(RNF170):c.374G>A:p.Ser125Asn	coding	Benign/Likely_benign
8	42870035	C	T	C42870035T	RNF170	NM_030954.4(RNF170):c.291G>A:p.Pro97=	coding	Benign
8	42973284	A	G	A42973284G	HOOK3	NM_032410.4(HOOK3):c.1123-5A>G	noncoding	Benign
8	43056536	G	A	G43056536A	FNTA	NM_002027.3(FNTA):c.190G>A:p.Val64Ile	coding	Benign
8	43084791	C	A	C43084791A	FNTA	NM_002027.3(FNTA):c.927C>A:p.Pro309=	coding	Benign
8	43103558	C	T	C43103558T	POMK	NM_032237.5(POMK):c.10C>T:p.Gln4Ter	coding	Pathogenic
8	43122149	C	T	C43122149T	POMK	NM_032237.5(POMK):c.325C>T:p.Gln109Ter	coding	Pathogenic
8	43122234	T	G	T43122234G	POMK	NM_032237.5(POMK):c.410T>G:p.Leu137Arg	coding	Pathogenic
8	43122365	C	T	C43122365T	POMK	NM_032237.5(POMK):c.541C>T:p.Leu181=	coding	Benign
8	43122442	C	T	C43122442T	POMK	NM_032237.5(POMK):c.618C>T:p.Asn206=	coding	Benign/Likely_benign
8	43122448	G	C	G43122448C	POMK	NM_032237.5(POMK):c.624G>C:p.Leu208=	coding	Benign
8	43122538	C	T	C43122538T	POMK	NM_032237.5(POMK):c.714C>T:p.Ser238=	coding	Benign/Likely_benign
8	43122619	C	T	C43122619T	POMK	NM_032237.5(POMK):c.795C>T:p.Asp265=	coding	Benign
8	43122726	T	C	T43122726C	POMK	NM_032237.5(POMK):c.902T>C:p.Met301Thr	coding	Benign
8	43122830	G	A	G43122830A	POMK	NM_032237.5(POMK):c.1006G>A:p.Asp336Asn	coding	Benign
8	43140323	G	A	G43140323A	HGSNAT	NC_000008.11:g.43140323G>A	noncoding	Benign
8	43140559	G	A	G43140559A	HGSNAT	NM_152419.3(HGSNAT):c.63G>A:p.Ala21=	coding	Benign
8	43146993	T	A	T43146993A	HGSNAT	NM_152419.3(HGSNAT):c.164T>A:p.Leu55Ter	coding	Pathogenic
8	43147033	C	T	C43147033T	HGSNAT	NM_152419.3(HGSNAT):c.204C>T:p.Thr68=	coding	Benign
8	43147064	G	A	G43147064A	HGSNAT	NM_152419.3(HGSNAT):c.234+1G>A	coding	Pathogenic
8	43158921	A	G	A43158921G	HGSNAT	NM_152419.3(HGSNAT):c.372-2A>G	noncoding	Pathogenic
8	43158949	G	C	G43158949C	HGSNAT	NM_152419.3(HGSNAT):c.398G>C:p.Gly133Ala	coding	Pathogenic
8	43159045	G	A	G43159045A	HGSNAT	NM_152419.3(HGSNAT):c.493+1G>A	coding	Pathogenic
8	43159090	G	T	G43159090T	HGSNAT	NM_152419.3(HGSNAT):c.493+46G>T	noncoding	Benign
8	43159853	T	C	T43159853C	HGSNAT	NM_152419.3(HGSNAT):c.493+809T>C	noncoding	Pathogenic
8	43161462	G	A	G43161462A	HGSNAT	NM_152419.3(HGSNAT):c.518G>A:p.Gly173Asp	coding	Pathogenic
8	43169216	C	T	C43169216T	HGSNAT	NM_152419.3(HGSNAT):c.607C>T:p.Arg203Ter	coding	Pathogenic
8	43169482	T	G	T43169482G	HGSNAT	NM_152419.3(HGSNAT):c.633+240T>G	noncoding	Benign
8	43170630	C	T	C43170630T	HGSNAT	NM_152419.3(HGSNAT):c.679C>T:p.Gln227Ter	coding	Pathogenic
8	43170631	A	T	A43170631T	HGSNAT	NM_152419.3(HGSNAT):c.680A>T:p.Gln227Leu	coding	Benign
8	43170640	C	T	C43170640T	HGSNAT	NM_152419.3(HGSNAT):c.689C>T:p.Thr230Met	coding	Benign
8	43172350	G	A	G43172350A	HGSNAT	NM_152419.3(HGSNAT):c.784G>A:p.Gly262Arg	coding	Pathogenic
8	43173720	A	G	A43173720G	HGSNAT	NM_152419.3(HGSNAT):c.828A>G:p.Thr276=	coding	Benign
8	43178072	A	C	A43178072C	HGSNAT	NM_152419.3(HGSNAT):c.852-2A>C	noncoding	Pathogenic
8	43178073	G	A	G43178073A	HGSNAT	NM_152419.3(HGSNAT):c.852-1G>A	noncoding	Pathogenic
8	43178109	C	A	C43178109A	HGSNAT	NM_152419.3(HGSNAT):c.887C>A:p.Ser296Ter	coding	Pathogenic
8	43178184	T	G	T43178184G	HGSNAT	NM_152419.3(HGSNAT):c.962T>G:p.Leu321Ter	coding	Pathogenic
8	43182162	C	T	C43182162T	HGSNAT	NM_152419.3(HGSNAT):c.1030C>T:p.Arg344Cys	coding	Pathogenic/Likely_pathogenic
8	43182180	C	T	C43182180T	HGSNAT	NM_152419.3(HGSNAT):c.1048C>T:p.Gln350Ter	coding	Pathogenic
8	43182183	C	T	C43182183T	HGSNAT	NM_152419.3(HGSNAT):c.1051C>T:p.Arg351Ter	coding	Pathogenic
8	43191495	C	T	C43191495T	HGSNAT	NM_152419.3(HGSNAT):c.1150C>T:p.Arg384Ter	coding	Pathogenic
8	43191519	C	T	C43191519T	HGSNAT	NM_152419.3(HGSNAT):c.1174C>T:p.Gln392Ter	coding	Pathogenic
8	43191595	C	T	C43191595T	HGSNAT	NM_152419.3(HGSNAT):c.1250C>T:p.Thr417Ile	coding	Benign
8	43191596	G	A	G43191596A	HGSNAT	NM_152419.3(HGSNAT):c.1250+1G>A	coding	Pathogenic/Likely_pathogenic
8	43191602	G	A	G43191602A	HGSNAT	NM_152419.3(HGSNAT):c.1250+7G>A	noncoding	Benign/Likely_benign
8	43192325	C	T	C43192325T	HGSNAT	NM_152419.3(HGSNAT):c.1272C>T:p.Gly424=	coding	Benign/Likely_benign
8	43192450	G	A	G43192450A	HGSNAT	NM_152419.3(HGSNAT):c.1377+20G>A	noncoding	Benign
8	43193790	G	A	G43193790A	HGSNAT	NM_152419.3(HGSNAT):c.1411G>A:p.Glu471Lys	coding	Pathogenic
8	43193824	T	A	T43193824A	HGSNAT	NM_152419.3(HGSNAT):c.1445T>A:p.Met482Lys	coding	Pathogenic
8	43193844	G	A	G43193844A	HGSNAT	NM_152419.3(HGSNAT):c.1464+1G>A	coding	Pathogenic/Likely_pathogenic
8	43196999	C	T	C43196999T	HGSNAT	NM_152419.3(HGSNAT):c.1516C>T:p.Arg506Ter	coding	Pathogenic
8	43197670	A	C	A43197670C	HGSNAT	NM_152419.3(HGSNAT):c.1543-2A>C	noncoding	Pathogenic
8	43197682	C	T	C43197682T	HGSNAT	NM_152419.3(HGSNAT):c.1553C>T:p.Ser518Phe	coding	Pathogenic
8	43197696	A	C	A43197696C	HGSNAT	NM_152419.3(HGSNAT):c.1567A>C:p.Lys523Gln	coding	Benign/Likely_benign
8	43197842	C	G	C43197842G	HGSNAT	NM_152419.3(HGSNAT):c.1616C>G:p.Ser539Cys	coding	Pathogenic
8	43197848	C	T	C43197848T	HGSNAT	NM_152419.3(HGSNAT):c.1622C>T:p.Ser541Leu	coding	Pathogenic/Likely_pathogenic
8	43197919	G	C	G43197919C	HGSNAT	NM_152419.3(HGSNAT):c.1693G>C:p.Gly565Arg	coding	Benign/Likely_benign
8	43197952	G	T	G43197952T	HGSNAT	NM_152419.3(HGSNAT):c.1726G>T:p.Gly576Ter	coding	Pathogenic
8	43199379	C	G	C43199379G	HGSNAT	NM_152419.3(HGSNAT):c.1727-9C>G	noncoding	Benign
8	43199410	T	C	T43199410C	HGSNAT	NM_152419.3(HGSNAT):c.1749T>C:p.Tyr583=	coding	Benign
8	43199501	G	A	G43199501A	HGSNAT	NM_152419.3(HGSNAT):c.1840G>A:p.Val614Ile	coding	Benign
8	43200046	G	A	G43200046A	HGSNAT	NM_152419.3(HGSNAT):c.*477G>A	noncoding	Benign
8	43200154	T	C	T43200154C	HGSNAT	NM_152419.3(HGSNAT):c.*585T>C	noncoding	Benign
8	43200169	C	T	C43200169T	HGSNAT	NM_152419.3(HGSNAT):c.*600C>T	noncoding	Benign
8	43200302	G	T	G43200302T	HGSNAT	NM_152419.3(HGSNAT):c.*733G>T	noncoding	Benign
8	43200655	G	C	G43200655C	HGSNAT	NM_152419.3(HGSNAT):c.*1086G>C	noncoding	Benign
8	43200781	C	T	C43200781T	HGSNAT	NM_152419.3(HGSNAT):c.*1212C>T	noncoding	Benign
8	43200785	G	A	G43200785A	HGSNAT	NM_152419.3(HGSNAT):c.*1216G>A	noncoding	Benign
8	43200800	G	A	G43200800A	HGSNAT	NM_152419.3(HGSNAT):c.*1231G>A	noncoding	Benign
8	43201349	C	T	C43201349T	HGSNAT	NM_152419.3(HGSNAT):c.*1780C>T	noncoding	Benign
8	43201370	T	C	T43201370C	HGSNAT	NM_152419.3(HGSNAT):c.*1801T>C	noncoding	Benign
8	43201511	A	G	A43201511G	HGSNAT	NM_152419.3(HGSNAT):c.*1942A>G	noncoding	Benign
8	43202324	C	T	C43202324T	HGSNAT	NM_152419.3(HGSNAT):c.*2755C>T	noncoding	Benign
8	47407967	G	A	G47407967A	SPIDR	NM_001080394.4(SPIDR):c.877+6G>A	noncoding	Benign
8	47700499	G	A	G47700499A	SPIDR	NM_001080394.4(SPIDR):c.1773+9G>A	noncoding	Benign
8	47701992	A	G	A47701992G	SPIDR	NM_001080394.4(SPIDR):c.1954A>G:p.Thr652Ala	coding	Benign
8	47712652	C	T	C47712652T	SPIDR	NM_001080394.4(SPIDR):c.1978-10C>T	noncoding	Benign
8	47712654	A	C	A47712654C	SPIDR	NM_001080394.4(SPIDR):c.1978-8A>C	noncoding	Benign
8	47727284	C	T	C47727284T	SPIDR	NM_001080394.4(SPIDR):c.2426C>T:p.Pro809Leu	coding	Benign
8	47776888	G	A	G47776888A	PRKDC	NM_006904.6(PRKDC):c.12138C>T:p.Tyr4046=	coding	Benign
8	47778507	G	A	G47778507A	PRKDC	NM_006904.6(PRKDC):c.11805C>T:p.Gly3935=	coding	Benign/Likely_benign
8	47778796	G	A	G47778796A	PRKDC	NM_006904.7(PRKDC):c.11583C>T:p.Gly3861=	coding	Benign
8	47779076	G	A	G47779076A	PRKDC	NM_006904.7(PRKDC):c.11507C>T:p.Pro3836Leu	coding	Benign
8	47782395	A	G	A47782395G	PRKDC	NM_006904.6(PRKDC):c.11379T>C:p.Val3793=	coding	Benign
8	47782437	G	A	G47782437A	PRKDC	NM_006904.7(PRKDC):c.11337C>T:p.Ser3779=	coding	Benign
8	47785144	C	T	C47785144T	PRKDC	NM_006904.7(PRKDC):c.11076G>A:p.Val3692=	coding	Benign
8	47789159	G	A	G47789159A	PRKDC	NM_006904.6(PRKDC):c.10750C>T:p.Leu3584Phe	coding	Benign
8	47789188	G	A	G47789188A	PRKDC	NM_006904.6(PRKDC):c.10721C>T:p.Ala3574Val	coding	Pathogenic
8	47789225	A	T	A47789225T	PRKDC	NM_006904.6(PRKDC):c.10684T>A:p.Leu3562Met	coding	Benign/Likely_benign
8	47794334	G	A	G47794334A	PRKDC	NM_006904.6(PRKDC):c.10626C>T:p.Phe3542=	coding	Benign/Likely_benign
8	47798319	T	C	T47798319C	PRKDC	NM_006904.6(PRKDC):c.10376A>G:p.Asn3459Ser	coding	Benign/Likely_benign
8	47798394	A	G	A47798394G	PRKDC	NM_006904.6(PRKDC):c.10301T>C:p.Ile3434Thr	coding	Benign
8	47799296	C	T	C47799296T	PRKDC	NM_006904.6(PRKDC):c.10211G>A:p.Gly3404Glu	coding	Benign/Likely_benign
8	47800976	G	A	G47800976A	PRKDC	NM_006904.6(PRKDC):c.9933C>T:p.Asn3311=	coding	Benign/Likely_benign
8	47803293	G	A	G47803293A	PRKDC	NM_006904.6(PRKDC):c.9922+13C>T	noncoding	Benign
8	47807283	G	A	G47807283A	PRKDC	NM_006904.6(PRKDC):c.9601C>T:p.Pro3201Ser	coding	Benign/Likely_benign
8	47807291	G	C	G47807291C	PRKDC	NM_006904.7(PRKDC):c.9593C>G:p.Thr3198Ser	coding	Benign
8	47807334	A	G	A47807334G	PRKDC	NM_006904.6(PRKDC):c.9558-8T>C	noncoding	Benign
8	47817442	C	T	C47817442T	PRKDC	NM_006904.6(PRKDC):c.9557+8G>A	noncoding	Benign/Likely_benign
8	47817561	C	T	C47817561T	PRKDC	NM_006904.6(PRKDC):c.9446G>A:p.Gly3149Asp	coding	Benign/Likely_benign
8	47820838	G	A	G47820838A	PRKDC	NM_006904.6(PRKDC):c.9217C>T:p.Leu3073Phe	coding	Benign/Likely_benign
8	47820870	A	C	A47820870C	PRKDC	NM_006904.6(PRKDC):c.9185T>G:p.Leu3062Arg	coding	Pathogenic
8	47820910	G	A	G47820910A	PRKDC	NM_006904.6(PRKDC):c.9145C>T:p.Leu3049=	coding	Benign/Likely_benign
8	47821685	T	A	T47821685A	PRKDC	NM_006904.6(PRKDC):c.9030A>T:p.Ser3010=	coding	Benign
8	47826744	G	A	G47826744A	PRKDC	NM_006904.6(PRKDC):c.8695C>T:p.Arg2899Cys	coding	Benign
8	47826754	C	T	C47826754T	PRKDC	NM_006904.6(PRKDC):c.8685G>A:p.Glu2895=	coding	Benign
8	47826778	G	A	G47826778A	PRKDC	NM_006904.6(PRKDC):c.8661C>T:p.Pro2887=	coding	Benign/Likely_benign
8	47826879	C	A	C47826879A	PRKDC	NM_006904.6(PRKDC):c.8578-18G>T	noncoding	Benign
8	47852727	G	A	G47852727A	PRKDC	NM_006904.7(PRKDC):c.6951C>T:p.Ala2317=	coding	Benign
8	47852742	A	G	A47852742G	PRKDC	NM_006904.6(PRKDC):c.6936T>C:p.Tyr2312=	coding	Benign
8	47857285	G	A	G47857285A	PRKDC	NM_006904.6(PRKDC):c.6480C>T:p.Tyr2160=	coding	Benign/Likely_benign
8	47858540	G	C	G47858540C	PRKDC	NM_006904.6(PRKDC):c.6441C>G:p.Ala2147=	coding	Benign
8	47859751	A	G	A47859751G	PRKDC	NM_006904.6(PRKDC):c.6067T>C:p.Ser2023Pro	coding	Benign
8	47879481	A	T	A47879481T	PRKDC	NM_006904.6(PRKDC):c.5235+10T>A	noncoding	Benign
8	47879638	A	C	A47879638C	PRKDC	NM_006904.6(PRKDC):c.5088T>G:p.Leu1696=	coding	Benign
8	47882065	C	A	C47882065A	PRKDC	NM_006904.6(PRKDC):c.4809G>T:p.Gln1603His	coding	Benign
8	47888610	C	T	C47888610T	PRKDC	NM_006904.7(PRKDC):c.4321G>A:p.Ala1441Thr	coding	Benign
8	47889157	G	A	G47889157A	PRKDC	NM_006904.6(PRKDC):c.4137C>T:p.Pro1379=	coding	Benign/Likely_benign
8	47890387	C	A	C47890387A	PRKDC	NM_006904.7(PRKDC):c.3941G>T:p.Gly1314Val	coding	Benign
8	47893227	C	T	C47893227T	PRKDC	NM_006904.6(PRKDC):c.3759G>A:p.Thr1253=	coding	Benign/Likely_benign
8	47900422	C	A	C47900422A	PRKDC	NM_006904.6(PRKDC):c.3315G>T:p.Val1105=	coding	Benign
8	47902616	C	T	C47902616T	PRKDC	NM_006904.6(PRKDC):c.3222G>A:p.Lys1074=	coding	Benign
8	47902626	T	C	T47902626C	PRKDC	NM_006904.6(PRKDC):c.3212A>G:p.Asn1071Ser	coding	Benign
8	47912405	C	G	C47912405G	PRKDC	NM_006904.6(PRKDC):c.2934+5G>C	noncoding	Benign
8	47929148	G	A	G47929148A	PRKDC	NM_006904.6(PRKDC):c.2083C>T:p.Pro695Ser	coding	Benign
8	47929865	T	C	T47929865C	PRKDC	NM_006904.6(PRKDC):c.2040A>G:p.Ile680Met	coding	Benign
8	47929994	T	C	T47929994C	PRKDC	NM_006904.6(PRKDC):c.1911A>G:p.Lys637=	coding	Benign/Likely_benign
8	47930750	G	C	G47930750C	PRKDC	NM_006904.6(PRKDC):c.1814C>G:p.Thr605Ser	coding	Benign
8	47933068	A	C	A47933068C	PRKDC	NM_006904.7(PRKDC):c.1728T>G:p.Val576=	coding	Benign
8	47933959	T	C	T47933959C	PRKDC	NM_006904.6(PRKDC):c.1623+6A>G	noncoding	Benign
8	47934049	T	C	T47934049C	PRKDC	NM_006904.7(PRKDC):c.1539A>G:p.Glu513=	coding	Benign
8	47935841	G	T	G47935841T	PRKDC	NM_006904.6(PRKDC):c.1338C>A:p.Phe446Leu	coding	Benign
8	47936419	G	A	G47936419A	PRKDC	NM_006904.7(PRKDC):c.1212C>T:p.Asp404=	coding	Benign
8	47939665	C	T	C47939665T	PRKDC	NM_006904.6(PRKDC):c.999G>A:p.Met333Ile	coding	Benign
8	47939707	C	A	C47939707A	PRKDC	NM_006904.6(PRKDC):c.967-10G>T	noncoding	Benign
8	47953923	A	T	A47953923T	PRKDC	NM_006904.7(PRKDC):c.509-4T>A	noncoding	Benign
8	47960111	C	A	C47960111A	PRKDC	NM_006904.6(PRKDC):c.16G>T:p.Ala6Ser	coding	Benign
8	47960701	A	C	A47960701C	MCM4	NM_005914.4(MCM4):c.-444A>C	noncoding	Benign
8	47961090	C	T	C47961090T	MCM4	NM_182746.3(MCM4):c.-14-41C>T	noncoding	Benign
8	47961514	A	G	A47961514G	MCM4	NM_182746.3(MCM4):c.71-2A>G	noncoding	Pathogenic
8	47962049	A	G	A47962049G	MCM4	NM_182746.3(MCM4):c.236-4A>G	noncoding	Benign
8	47962935	T	C	T47962935C	MCM4	NM_182746.3(MCM4):c.598-10T>C	noncoding	Benign
8	47966212	C	T	C47966212T	MCM4	NM_182746.3(MCM4):c.858C>T:p.Ser286=	coding	Benign
8	47966411	C	T	C47966411T	MCM4	NM_182746.3(MCM4):c.1053+4C>T	noncoding	Benign
8	47969832	A	G	A47969832G	MCM4	NM_182746.3(MCM4):c.1209A>G:p.Pro403=	coding	Benign
8	47970645	G	A	G47970645A	MCM4	NM_182746.3(MCM4):c.1569G>A:p.Val523=	coding	Benign/Likely_benign
8	47970735	A	G	A47970735G	MCM4	NM_182746.3(MCM4):c.1659A>G:p.Thr553=	coding	Benign/Likely_benign
8	47972876	T	A	T47972876A	MCM4	NM_182746.3(MCM4):c.1948T>A:p.Leu650Met	coding	Benign
8	47972992	G	A	G47972992A	MCM4	NM_182746.3(MCM4):c.2064G>A:p.Lys688=	coding	Benign/Likely_benign
8	47974769	G	A	G47974769A	MCM4	NM_182746.3(MCM4):c.2172G>A:p.Arg724=	coding	Benign/Likely_benign
8	47974966	C	T	C47974966T	MCM4	NM_182746.3(MCM4):c.2365+4C>T	noncoding	Benign/Likely_benign
8	47976849	C	A	C47976849A	MCM4	NM_182746.3(MCM4):c.*71C>A	noncoding	Benign
8	47976926	A	G	A47976926G	MCM4	NM_182746.3(MCM4):c.*148A>G	noncoding	Benign
8	47976975	T	C	T47976975C	MCM4	NM_182746.3(MCM4):c.*197T>C	noncoding	Benign
8	47978034	A	G	A47978034G	MCM4	NM_182746.3(MCM4):c.*1256A>G	noncoding	Benign
8	48919915	T	C	T48919915C	SNAI2	NM_003068.5(SNAI2):c.606A>G:p.Gly202=	coding	Benign/Likely_benign
8	48920156	G	A	G48920156A	SNAI2	NM_003068.5(SNAI2):c.365C>T:p.Ala122Val	coding	Benign/Likely_benign
8	50658589	A	C	A50658589C	SNTG1	NM_018967.5(SNTG1):c.967-3A>C	noncoding	Benign
8	50704695	C	T	C50704695T	SNTG1	NM_018967.5(SNTG1):c.1134C>T:p.Leu378=	coding	Benign
8	51320805	G	A	G51320805A	PXDNL	NM_144651.5(PXDNL):c.4239C>T:p.Asp1413=	coding	Benign
8	51339745	T	G	T51339745G	PXDNL	NM_144651.5(PXDNL):c.4025A>C:p.Asp1342Ala	coding	Benign
8	51374670	G	A	G51374670A	PXDNL	NM_144651.5(PXDNL):c.3619C>T:p.Pro1207Ser	coding	Benign
8	51408226	G	A	G51408226A	PXDNL	NM_144651.5(PXDNL):c.3398C>T:p.Ala1133Val	coding	Benign
8	51408474	A	G	A51408474G	PXDNL	NM_144651.5(PXDNL):c.3150T>C:p.Thr1050=	coding	Benign
8	51408508	T	C	T51408508C	PXDNL	NM_144651.5(PXDNL):c.3116A>G:p.Asn1039Ser	coding	Benign
8	51408678	G	A	G51408678A	PXDNL	NM_144651.5(PXDNL):c.2946C>T:p.Ala982=	coding	Benign
8	51408683	T	C	T51408683C	PXDNL	NM_144651.5(PXDNL):c.2941A>G:p.Met981Val	coding	Benign
8	51411308	C	T	C51411308T	PXDNL	NM_144651.5(PXDNL):c.2004G>A:p.Thr668=	coding	Benign
8	51447096	G	A	G51447096A	PXDNL	NM_144651.5(PXDNL):c.1433C>T:p.Ala478Val	coding	Benign
8	51449066	A	G	A51449066G	PXDNL	NM_144651.5(PXDNL):c.1302T>C:p.His434=	coding	Benign
8	51453555	C	T	C51453555T	PXDNL	NM_144651.5(PXDNL):c.1213G>A:p.Gly405Ser	coding	Benign
8	51453640	G	A	G51453640A	PXDNL	NM_144651.5(PXDNL):c.1128C>T:p.His376=	coding	Benign
8	51474972	G	C	G51474972C	PXDNL	NM_144651.5(PXDNL):c.694C>G:p.Gln232Glu	coding	Benign
8	51483681	T	C	T51483681C	PXDNL	NM_144651.5(PXDNL):c.486A>G:p.Pro162=	coding	Benign
8	51556839	C	T	C51556839T	PXDNL	NM_144651.5(PXDNL):c.380+1G>A	noncoding	Benign
8	51654731	A	T	A51654731T	PXDNL	NM_144651.5(PXDNL):c.194T>A:p.Ile65Asn	coding	Benign
8	51654770	T	C	T51654770C	PXDNL	NM_144651.5(PXDNL):c.165-10A>G	noncoding	Benign
8	52118363	G	T	G52118363T	ST18	NM_014682.2(ST18):c.2834C>A:p.Ala945Glu	coding	Benign
8	52149835	A	G	A52149835G	ST18	NM_014682.2(ST18):c.1949T>C:p.Ile650Thr	coding	Benign
8	52172015	A	G	A52172015G	ST18	NM_014682.2(ST18):c.846T>C:p.Asp282=	coding	Benign
8	52628135	T	C	T52628135C	RB1CC1	NM_014781.5(RB1CC1):c.4533A>G:p.Leu1511=	coding	Benign
8	52634960	T	C	T52634960C	RB1CC1	NM_014781.5(RB1CC1):c.4401A>G:p.Gln1467=	coding	Benign
8	52642404	T	G	T52642404G	RB1CC1	NM_014781.5(RB1CC1):c.4284A>C:p.Thr1428=	coding	Benign
8	52642416	G	A	G52642416A	RB1CC1	NM_014781.5(RB1CC1):c.4272C>T:p.Ser1424=	coding	Benign
8	52645747	A	T	A52645747T	RB1CC1	NM_014781.5(RB1CC1):c.3942T>A:p.Asn1314Lys	coding	Benign
8	52656634	C	T	C52656634T	RB1CC1	NM_014781.5(RB1CC1):c.3195G>A:p.Ala1065=	coding	Benign
8	52656853	C	T	C52656853T	RB1CC1	NM_014781.5(RB1CC1):c.2976G>A:p.Glu992=	coding	Benign
8	52657768	T	C	T52657768C	RB1CC1	NM_014781.5(RB1CC1):c.2061A>G:p.Leu687=	coding	Benign
8	52668111	G	A	G52668111A	RB1CC1	NM_014781.5(RB1CC1):c.1083C>T:p.Ala361=	coding	Benign
8	52668141	A	G	A52668141G	RB1CC1	NM_014781.5(RB1CC1):c.1053T>C:p.Ile351=	coding	Benign
8	52668198	G	C	G52668198C	RB1CC1	NM_014781.5(RB1CC1):c.1003-7C>G	noncoding	Benign
8	52685391	C	T	C52685391T	RB1CC1	NM_014781.5(RB1CC1):c.71+8G>A	noncoding	Benign
8	52940862	C	T	C52940862T	NPBWR1	NM_005285.5(NPBWR1):c.955C>T:p.Arg319Cys	coding	Benign
8	53229320	C	T	C53229320T	OPRK1	NM_000912.5(OPRK1):c.1120G>A:p.Asp374Asn	coding	Benign
8	53229492	G	A	G53229492A	OPRK1	NM_000912.5(OPRK1):c.948C>T:p.Ile316=	coding	Benign
8	53229588	G	A	G53229588A	OPRK1	NM_000912.5(OPRK1):c.852C>T:p.Val284=	coding	Benign
8	53234771	T	C	T53234771C	OPRK1	NM_000912.5(OPRK1):c.598A>G:p.Lys200Glu	coding	Benign
8	53879428	G	A	G53879428A	RGS20	NM_170587.4(RGS20):c.336G>A:p.Pro112=	coding	Benign
8	53954097	A	G	A53954097G	RGS20	NM_170587.4(RGS20):c.765A>G:p.Glu255=	coding	Benign
8	54052660	G	A	G54052660A	LYPLA1	NM_006330.4(LYPLA1):c.457C>T:p.Pro153Ser	coding	Benign
8	54458411	A	T	A54458411T	SOX17	NM_022454.4(SOX17):c.273A>T:p.Pro91=	coding	Benign
8	54459229	C	T	C54459229T	SOX17	NM_022454.4(SOX17):c.479C>T:p.Ala160Val	coding	Benign
8	54459525	T	A	T54459525A	SOX17	NM_022454.4(SOX17):c.775T>A:p.Tyr259Asn	coding	Benign/Likely_benign
8	54621245	G	T	G54621245T	RP1	NM_006269.2(RP1):c.279G>T:p.Thr93=	coding	Benign/Likely_benign
8	54621563	C	G	C54621563G	RP1	NM_006269.2(RP1):c.597C>G:p.Tyr199Ter	coding	Pathogenic
8	54621572	C	A	C54621572A	RP1	NM_006269.2(RP1):c.606C>A:p.Asp202Glu	coding	Pathogenic
8	54621582	G	A	G54621582A	RP1	NM_006269.2(RP1):c.615+1G>A	coding	Pathogenic
8	54622111	T	C	T54622111C	RP1	NM_006269.2(RP1):c.616-6T>C	noncoding	Benign/Likely_benign
8	54622119	T	C	T54622119C	RP1	NM_006269.2(RP1):c.618T>C:p.Val206=	coding	Benign
8	54622180	T	G	T54622180G	RP1	NM_006269.2(RP1):c.679T>G:p.Phe227Val	coding	Pathogenic
8	54622189	G	T	G54622189T	RP1	NM_006269.2(RP1):c.688G>T:p.Gly230Ter	coding	Pathogenic
8	54624668	A	T	A54624668T	RP1	NM_006269.2(RP1):c.788-2A>T	noncoding	Pathogenic
8	54624767	T	C	T54624767C	RP1	NM_006269.2(RP1):c.885T>C:p.Val295=	coding	Benign
8	54624894	C	T	C54624894T	RP1	NM_006269.2(RP1):c.1012C>T:p.Arg338Ter	coding	Pathogenic
8	54625000	C	T	C54625000T	RP1	NM_006269.2(RP1):c.1118C>T:p.Thr373Ile	coding	Benign/Likely_benign
8	54625065	G	T	G54625065T	RP1	NM_006269.2(RP1):c.1183G>T:p.Glu395Ter	coding	Pathogenic
8	54625068	C	T	C54625068T	RP1	NM_006269.2(RP1):c.1186C>T:p.Arg396Ter	coding	Pathogenic/Likely_pathogenic
8	54625333	C	A	C54625333A	RP1	NM_006269.2(RP1):c.1451C>A:p.Ser484Ter	coding	Pathogenic/Likely_pathogenic
8	54625350	G	T	G54625350T	RP1	NM_006269.2(RP1):c.1468G>T:p.Glu490Ter	coding	Pathogenic
8	54625437	C	T	C54625437T	RP1	NM_006269.2(RP1):c.1555C>T:p.Gln519Ter	coding	Pathogenic
8	54625507	C	G	C54625507G	RP1	NM_006269.2(RP1):c.1625C>G:p.Ser542Ter	coding	Pathogenic
8	54625857	A	T	A54625857T	RP1	NM_006269.2(RP1):c.1975A>T:p.Lys659Ter	coding	Pathogenic
8	54625911	C	T	C54625911T	RP1	NM_006269.2(RP1):c.2029C>T:p.Arg677Ter	coding	Pathogenic
8	54625914	C	T	C54625914T	RP1	NM_006269.2(RP1):c.2032C>T:p.Gln678Ter	coding	Pathogenic
8	54625917	C	T	C54625917T	RP1	NM_006269.2(RP1):c.2035C>T:p.Gln679Ter	coding	Pathogenic
8	54625938	C	T	C54625938T	RP1	NM_006269.2(RP1):c.2056C>T:p.Gln686Ter	coding	Pathogenic
8	54625995	A	T	A54625995T	RP1	NM_006269.2(RP1):c.2113A>T:p.Lys705Ter	coding	Pathogenic
8	54626049	G	T	G54626049T	RP1	NM_006269.2(RP1):c.2167G>T:p.Gly723Ter	coding	Pathogenic
8	54626101	C	A	C54626101A	RP1	NM_006269.2(RP1):c.2219C>A:p.Ser740Ter	coding	Pathogenic/Likely_pathogenic
8	54626137	C	T	C54626137T	RP1	NM_006269.2(RP1):c.2255C>T:p.Thr752Met	coding	Benign
8	54626178	C	T	C54626178T	RP1	NM_006269.2(RP1):c.2296C>T:p.Gln766Ter	coding	Pathogenic/Likely_pathogenic
8	54626214	A	T	A54626214T	RP1	NM_006269.2(RP1):c.2332A>T:p.Lys778Ter	coding	Pathogenic
8	54626224	C	A	C54626224A	RP1	NM_006269.2(RP1):c.2342C>A:p.Ser781Ter	coding	Pathogenic
8	54626256	A	T	A54626256T	RP1	NM_006269.2(RP1):c.2374A>T:p.Lys792Ter	coding	Pathogenic
8	54626452	C	G	C54626452G	RP1	NM_006269.2(RP1):c.2570C>G:p.Ser857Ter	coding	Pathogenic
8	54626467	C	G	C54626467G	RP1	NM_006269.2(RP1):c.2585C>G:p.Ser862Ter	coding	Pathogenic
8	54626497	G	A	G54626497A	RP1	NM_006269.2(RP1):c.2615G>A:p.Arg872His	coding	Benign
8	54626631	C	T	C54626631T	RP1	NM_006269.2(RP1):c.2749C>T:p.Gln917Ter	coding	Pathogenic
8	54626660	T	A	T54626660A	RP1	NM_006269.2(RP1):c.2778T>A:p.Tyr926Ter	coding	Pathogenic
8	54626715	G	T	G54626715T	RP1	NM_006269.2(RP1):c.2833G>T:p.Val945Leu	coding	Benign
8	54626835	A	T	A54626835T	RP1	NM_006269.2(RP1):c.2953A>T:p.Asn985Tyr	coding	Benign/Likely_benign
8	54626873	T	C	T54626873C	RP1	NM_006269.2(RP1):c.2991T>C:p.Asn997=	coding	Benign
8	54627016	C	G	C54627016G	RP1	NM_006269.2(RP1):c.3134C>G:p.Ser1045Ter	coding	Pathogenic
8	54627278	G	A	G54627278A	RP1	NM_006269.2(RP1):c.3396G>A:p.Trp1132Ter	coding	Pathogenic
8	54627581	C	T	C54627581T	RP1	NM_006269.2(RP1):c.3699C>T:p.Ser1233=	coding	Benign
8	54627881	C	T	C54627881T	RP1	NM_006269.2(RP1):c.3999C>T:p.Tyr1333=	coding	Benign
8	54628013	C	T	C54628013T	RP1	NM_006269.2(RP1):c.4131C>T:p.Asp1377=	coding	Benign
8	54628391	T	C	T54628391C	RP1	NM_006269.2(RP1):c.4509T>C:p.Thr1503=	coding	Benign
8	54628393	T	C	T54628393C	RP1	NM_006269.2(RP1):c.4511T>C:p.Leu1504Ser	coding	Benign
8	54628394	A	G	A54628394G	RP1	NM_006269.2(RP1):c.4512A>G:p.Leu1504=	coding	Benign
8	54628434	A	T	A54628434T	RP1	NM_006269.2(RP1):c.4552A>T:p.Lys1518Ter	coding	Pathogenic
8	54628447	G	A	G54628447A	RP1	NM_006269.2(RP1):c.4565G>A:p.Gly1522Asp	coding	Benign
8	54628666	G	A	G54628666A	RP1	NM_006269.2(RP1):c.4784G>A:p.Arg1595Gln	coding	Benign
8	54628686	C	T	C54628686T	RP1	NM_006269.2(RP1):c.4804C>T:p.Gln1602Ter	coding	Pathogenic
8	54628890	G	A	G54628890A	RP1	NM_006269.2(RP1):c.5008G>A:p.Ala1670Thr	coding	Benign
8	54628901	T	G	T54628901G	RP1	NM_006269.2(RP1):c.5019T>G:p.Tyr1673Ter	coding	Pathogenic
8	54628953	T	C	T54628953C	RP1	NM_006269.2(RP1):c.5071T>C:p.Ser1691Pro	coding	Benign
8	54629057	A	G	A54629057G	RP1	NM_006269.2(RP1):c.5175A>G:p.Gln1725=	coding	Benign
8	54629259	C	T	C54629259T	RP1	NM_006269.2(RP1):c.5377C>T:p.Pro1793Ser	coding	Benign/Likely_benign
8	54629583	C	T	C54629583T	RP1	NM_006269.2(RP1):c.5701C>T:p.Leu1901Phe	coding	Benign
8	54629700	G	T	G54629700T	RP1	NM_006269.2(RP1):c.5818G>T:p.Glu1940Ter	coding	Pathogenic
8	54629946	A	C	A54629946C	RP1	NM_006269.2(RP1):c.6064A>C:p.Lys2022Gln	coding	Benign/Likely_benign
8	54629980	G	A	G54629980A	RP1	NM_006269.2(RP1):c.6098G>A:p.Cys2033Tyr	coding	Benign/Likely_benign
8	54630248	T	C	T54630248C	RP1	NM_006269.2(RP1):c.6366T>C:p.Ile2122=	coding	Benign
8	54630424	C	T	C54630424T	RP1	NM_006269.2(RP1):c.*71C>T	noncoding	Benign
8	54630425	G	A	G54630425A	RP1	NM_006269.2(RP1):c.*72G>A	noncoding	Benign
8	55523951	C	A	C55523951A	XKR4	NM_052898.2(XKR4):c.1677C>A:p.Arg559=	coding	Benign
8	55785806	G	A	G55785806A	TGS1	NM_024831.8(TGS1):c.254G>A:p.Ser85Asn	coding	Benign
8	55786265	A	G	A55786265G	TGS1	NM_024831.8(TGS1):c.367A>G:p.Lys123Glu	coding	Benign
8	55786346	G	A	G55786346A	TGS1	NM_024831.8(TGS1):c.448G>A:p.Asp150Asn	coding	Benign
8	55786376	A	G	A55786376G	TGS1	NM_024831.8(TGS1):c.478A>G:p.Ile160Val	coding	Benign
8	55786793	C	T	C55786793T	TGS1	NM_024831.8(TGS1):c.895C>T:p.Pro299Ser	coding	Benign
8	55787029	G	A	G55787029A	TGS1	NM_024831.8(TGS1):c.1131G>A:p.Ser377=	coding	Benign
8	55790199	G	A	G55790199A	TGS1	NM_024831.8(TGS1):c.1180G>A:p.Gly394Arg	coding	Benign
8	55790239	C	G	C55790239G	TGS1	NM_024831.8(TGS1):c.1220C>G:p.Thr407Ser	coding	Benign
8	55792721	A	C	A55792721C	TGS1	NM_024831.8(TGS1):c.1304A>C:p.Asn435Thr	coding	Benign
8	55796011	G	A	G55796011A	TGS1	NM_024831.8(TGS1):c.1401G>A:p.Gln467=	coding	Benign
8	55799097	G	A	G55799097A	TGS1	NM_024831.8(TGS1):c.1726G>A:p.Val576Ile	coding	Benign
8	55813044	G	A	G55813044A	TGS1	NM_024831.8(TGS1):c.2365G>A:p.Glu789Lys	coding	Benign
8	55953956	C	T	C55953956T	LYN	NM_002350.4(LYN):c.762C>T:p.Gly254=	coding	Benign
8	55998369	C	T	C55998369T	LYN	NM_002350.4(LYN):c.1074C>T:p.Ile358=	coding	Benign
8	56073199	A	C	A56073199C	RPS20	NM_001023.4(RPS20):c.251T>G:p.Ile84Ser	coding	Pathogenic
8	56073199	A	T	A56073199T	RPS20	NM_001023.4(RPS20):c.251T>A:p.Ile84Asn	coding	Pathogenic
8	56073222	C	T	C56073222T	RPS20	NM_001023.3(RPS20):c.228G>A:p.Thr76=	coding	Benign
8	56441293	G	A	G56441293A	PENK	NM_001135690.3(PENK):c.783C>T:p.Tyr261=	coding	Benign
8	56441347	G	A	G56441347A	PENK	NM_001135690.3(PENK):c.729C>T:p.Ser243=	coding	Benign
8	56441821	T	C	T56441821C	PENK	NM_001135690.3(PENK):c.255A>G:p.Arg85=	coding	Benign
8	56441828	G	T	G56441828T	PENK	NM_001135690.3(PENK):c.248C>A:p.Thr83Asn	coding	Benign
8	56445888	C	T	C56445888T	PENK	NM_001135690.3(PENK):c.66G>A:p.Val22=	coding	Benign
8	56958063	T	C	T56958063C	BPNT2	NM_017813.5(BPNT2):c.*5730A>G	noncoding	Benign
8	56958281	A	G	A56958281G	BPNT2	NM_017813.5(BPNT2):c.*5512T>C	noncoding	Benign
8	56958288	T	C	T56958288C	BPNT2	NM_017813.5(BPNT2):c.*5505A>G	noncoding	Benign
8	56958779	T	C	T56958779C	BPNT2	NM_017813.5(BPNT2):c.*5014A>G	noncoding	Benign
8	56958903	G	A	G56958903A	BPNT2	NM_017813.5(BPNT2):c.*4890C>T	noncoding	Benign
8	56959363	T	C	T56959363C	BPNT2	NM_017813.5(BPNT2):c.*4430A>G	noncoding	Benign
8	56959584	C	T	C56959584T	BPNT2	NM_017813.5(BPNT2):c.*4209G>A	noncoding	Benign
8	56960120	T	C	T56960120C	BPNT2	NM_017813.5(BPNT2):c.*3673A>G	noncoding	Benign
8	56960156	G	C	G56960156C	BPNT2	NM_017813.5(BPNT2):c.*3637C>G	noncoding	Benign
8	56960589	T	C	T56960589C	BPNT2	NM_017813.5(BPNT2):c.*3204A>G	noncoding	Benign
8	56961162	T	C	T56961162C	BPNT2	NM_017813.5(BPNT2):c.*2631A>G	noncoding	Benign
8	56961185	T	G	T56961185G	BPNT2	NM_017813.5(BPNT2):c.*2608A>C	noncoding	Benign
8	56961285	A	T	A56961285T	BPNT2	NM_017813.5(BPNT2):c.*2508T>A	noncoding	Benign
8	56961411	T	C	T56961411C	BPNT2	NM_017813.5(BPNT2):c.*2382A>G	noncoding	Benign
8	56961505	C	T	C56961505T	BPNT2	NM_017813.5(BPNT2):c.*2288G>A	noncoding	Benign
8	56963011	C	T	C56963011T	BPNT2	NM_017813.5(BPNT2):c.*782G>A	noncoding	Benign
8	56963029	G	A	G56963029A	BPNT2	NM_017813.5(BPNT2):c.*764C>T	noncoding	Benign
8	56963092	G	A	G56963092A	BPNT2	NM_017813.5(BPNT2):c.*701C>T	noncoding	Benign
8	56963435	C	T	C56963435T	BPNT2	NM_017813.5(BPNT2):c.*358G>A	noncoding	Benign
8	56963646	G	A	G56963646A	BPNT2	NM_017813.5(BPNT2):c.*147C>T	noncoding	Benign
8	56963934	C	T	C56963934T	BPNT2	NM_017813.5(BPNT2):c.939G>A:p.Gly313=	coding	Benign/Likely_benign
8	56964017	T	C	T56964017C	BPNT2	NM_017813.5(BPNT2):c.856A>G:p.Lys286Glu	coding	Benign
8	56978129	G	A	G56978129A	BPNT2	NM_017813.5(BPNT2):c.567C>T:p.Tyr189=	coding	Benign
8	56978137	G	A	G56978137A	BPNT2	NM_017813.5(BPNT2):c.559C>T:p.Arg187Ter	coding	Pathogenic
8	56980038	T	G	T56980038G	BPNT2	NM_017813.5(BPNT2):c.547A>C:p.Thr183Pro	coding	Pathogenic
8	56980056	C	T	C56980056T	BPNT2	NM_017813.5(BPNT2):c.529G>A:p.Asp177Asn	coding	Pathogenic
8	56993710	G	A	G56993710A	BPNT2	NM_017813.5(BPNT2):c.-125C>T	noncoding	Benign
8	56993754	G	A	G56993754A	BPNT2	NM_017813.5(BPNT2):c.-169C>T	noncoding	Benign
8	58491742	G	A	G58491742A	CYP7A1	NM_000780.4(CYP7A1):c.1248C>T:p.Asn416=	coding	Benign
8	58498294	G	T	G58498294T	CYP7A1	NM_000780.4(CYP7A1):c.256C>A:p.His86Asn	coding	Benign
8	58498325	A	G	A58498325G	CYP7A1	NM_000780.4(CYP7A1):c.225T>C:p.Tyr75=	coding	Benign
8	58498475	A	G	A58498475G	CYP7A1	NM_000780.4(CYP7A1):c.81-6T>C	noncoding	Benign
8	60222677	C	T	C60222677T	CA8	NM_004056.6(CA8):c.710G>A:p.Arg237Gln	coding	Pathogenic
8	60226868	C	T	C60226868T	CA8	NM_004056.6(CA8):c.576+5G>A	noncoding	Benign/Likely_benign
8	60266008	G	A	G60266008A	CA8	NM_004056.6(CA8):c.334C>T:p.Leu112=	coding	Benign
8	60266015	T	C	T60266015C	CA8	NM_004056.6(CA8):c.327A>G:p.Glu109=	coding	Benign
8	60266033	T	C	T60266033C	CA8	NM_004056.6(CA8):c.309A>G:p.Pro103=	coding	Benign/Likely_benign
8	60266043	G	A	G60266043A	CA8	NM_004056.6(CA8):c.299C>T:p.Ser100Leu	coding	Benign
8	60266044	A	G	A60266044G	CA8	NM_004056.6(CA8):c.298T>C:p.Ser100Pro	coding	Pathogenic
8	60281082	T	C	T60281082C	CA8	NM_004056.6(CA8):c.66A>G:p.Glu22=	coding	Benign
8	60281106	G	A	G60281106A	CA8	NM_004056.6(CA8):c.42C>T:p.Pro14=	coding	Benign
8	60678877	C	T	C60678877T	CHD7	NM_017780.4(CHD7):c.-380C>T	noncoding	Benign
8	60741583	C	T	C60741583T	CHD7	NM_017780.4(CHD7):c.151C>T:p.Gln51Ter	coding	Pathogenic
8	60741596	A	G	A60741596G	CHD7	NM_017780.4(CHD7):c.164A>G:p.His55Arg	coding	Pathogenic
8	60741739	T	A	T60741739A	CHD7	NM_017780.4(CHD7):c.307T>A:p.Ser103Thr	coding	Benign
8	60741741	G	A	G60741741A	CHD7	NM_017780.4(CHD7):c.309G>A:p.Ser103=	coding	Benign/Likely_benign
8	60741742	C	T	C60741742T	CHD7	NM_017780.4(CHD7):c.310C>T:p.Gln104Ter	coding	Pathogenic
8	60741782	G	A	G60741782A	CHD7	NM_017780.4(CHD7):c.350G>A:p.Gly117Asp	coding	Benign
8	60741796	C	T	C60741796T	CHD7	NM_017780.4(CHD7):c.364C>T:p.Gln122Ter	coding	Pathogenic
8	60741841	T	G	T60741841G	CHD7	NM_017780.4(CHD7):c.409T>G:p.Ser137Ala	coding	Benign/Likely_benign
8	60741866	G	A	G60741866A	CHD7	NM_017780.4(CHD7):c.434G>A:p.Trp145Ter	coding	Pathogenic
8	60741876	G	A	G60741876A	CHD7	NM_017780.4(CHD7):c.444G>A:p.Arg148=	coding	Benign/Likely_benign
8	60741901	C	T	C60741901T	CHD7	NM_017780.4(CHD7):c.469C>T:p.Arg157Ter	coding	Pathogenic
8	60741928	C	T	C60741928T	CHD7	NM_017780.4(CHD7):c.496C>T:p.Gln166Ter	coding	Pathogenic
8	60741943	C	T	C60741943T	CHD7	NM_017780.4(CHD7):c.511C>T:p.Gln171Ter	coding	Pathogenic
8	60741970	C	T	C60741970T	CHD7	NM_017780.4(CHD7):c.538C>T:p.Gln180Ter	coding	Pathogenic
8	60741982	C	T	C60741982T	CHD7	NM_017780.4(CHD7):c.550C>T:p.Gln184Ter	coding	Pathogenic
8	60741991	C	T	C60741991T	CHD7	NM_017780.4(CHD7):c.559C>T:p.Gln187Ter	coding	Pathogenic
8	60742036	C	T	C60742036T	CHD7	NM_017780.4(CHD7):c.604C>T:p.Gln202Ter	coding	Pathogenic
8	60742045	C	T	C60742045T	CHD7	NM_017780.4(CHD7):c.613C>T:p.Gln205Ter	coding	Pathogenic
8	60742096	C	T	C60742096T	CHD7	NM_017780.4(CHD7):c.664C>T:p.Gln222Ter	coding	Pathogenic
8	60742099	G	T	G60742099T	CHD7	NM_017780.4(CHD7):c.667G>T:p.Gly223Ter	coding	Pathogenic
8	60742121	C	A	C60742121A	CHD7	NM_017780.4(CHD7):c.689C>A:p.Ser230Ter	coding	Pathogenic
8	60742126	C	A	C60742126A	CHD7	NM_017780.4(CHD7):c.694C>A:p.Pro232Thr	coding	Benign/Likely_benign
8	60742192	C	T	C60742192T	CHD7	NM_017780.4(CHD7):c.760C>T:p.Gln254Ter	coding	Pathogenic
8	60742288	A	G	A60742288G	CHD7	NM_017780.4(CHD7):c.856A>G:p.Arg286Gly	coding	Benign/Likely_benign
8	60742321	C	T	C60742321T	CHD7	NM_017780.4(CHD7):c.889C>T:p.Gln297Ter	coding	Pathogenic
8	60742357	C	T	C60742357T	CHD7	NM_017780.4(CHD7):c.925C>T:p.Gln309Ter	coding	Pathogenic/Likely_pathogenic
8	60742366	C	T	C60742366T	CHD7	NM_017780.4(CHD7):c.934C>T:p.Arg312Ter	coding	Pathogenic
8	60742393	G	T	G60742393T	CHD7	NM_017780.4(CHD7):c.961G>T:p.Gly321Ter	coding	Pathogenic
8	60742450	A	G	A60742450G	CHD7	NM_017780.4(CHD7):c.1018A>G:p.Met340Val	coding	Benign/Likely_benign
8	60742461	C	T	C60742461T	CHD7	NM_017780.4(CHD7):c.1029C>T:p.Ser343=	coding	Benign/Likely_benign
8	60742522	C	T	C60742522T	CHD7	NM_017780.4(CHD7):c.1090C>T:p.Gln364Ter	coding	Pathogenic
8	60742555	C	T	C60742555T	CHD7	NM_017780.4(CHD7):c.1123C>T:p.Gln375Ter	coding	Pathogenic
8	60742602	T	G	T60742602G	CHD7	NM_017780.4(CHD7):c.1170T>G:p.Tyr390Ter	coding	Pathogenic
8	60742611	A	G	A60742611G	CHD7	NM_017780.4(CHD7):c.1179A>G:p.Pro393=	coding	Benign/Likely_benign
8	60742620	G	T	G60742620T	CHD7	NM_017780.4(CHD7):c.1188G>T:p.Met396Ile	coding	Benign/Likely_benign
8	60742635	A	G	A60742635G	CHD7	NM_017780.4(CHD7):c.1203A>G:p.Ala401=	coding	Benign
8	60742678	G	T	G60742678T	CHD7	NM_017780.4(CHD7):c.1246G>T:p.Gly416Ter	coding	Pathogenic
8	60742713	T	A	T60742713A	CHD7	NM_017780.4(CHD7):c.1281T>A:p.Tyr427Ter	coding	Pathogenic
8	60742732	C	T	C60742732T	CHD7	NM_017780.4(CHD7):c.1300C>T:p.Gln434Ter	coding	Pathogenic
8	60742744	C	T	C60742744T	CHD7	NM_017780.4(CHD7):c.1312C>T:p.Gln438Ter	coding	Pathogenic
8	60742758	C	A	C60742758A	CHD7	NM_017780.4(CHD7):c.1326C>A:p.Ala442=	coding	Benign/Likely_benign
8	60742801	C	T	C60742801T	CHD7	NM_017780.4(CHD7):c.1369C>T:p.Gln457Ter	coding	Pathogenic
8	60742851	G	C	G60742851C	CHD7	NM_017780.4(CHD7):c.1419G>C:p.Gly473=	coding	Benign/Likely_benign
8	60742897	C	T	C60742897T	CHD7	NM_017780.4(CHD7):c.1465C>T:p.Gln489Ter	coding	Pathogenic
8	60742912	C	T	C60742912T	CHD7	NM_017780.4(CHD7):c.1480C>T:p.Arg494Ter	coding	Pathogenic
8	60742945	C	T	C60742945T	CHD7	NM_017780.4(CHD7):c.1513C>T:p.Gln505Ter	coding	Pathogenic
8	60742968	A	G	A60742968G	CHD7	NM_017780.4(CHD7):c.1536A>G:p.Pro512=	coding	Benign
8	60742984	C	T	C60742984T	CHD7	NM_017780.4(CHD7):c.1552C>T:p.Gln518Ter	coding	Pathogenic
8	60742997	G	T	G60742997T	CHD7	NM_017780.4(CHD7):c.1565G>T:p.Gly522Val	coding	Benign/Likely_benign
8	60743131	G	A	G60743131A	CHD7	NM_017780.4(CHD7):c.1665+34G>A	noncoding	Benign
8	60780853	C	A	C60780853A	CHD7	NM_017780.4(CHD7):c.1666-147C>A	noncoding	Benign
8	60781048	C	T	C60781048T	CHD7	NM_017780.4(CHD7):c.1714C>T:p.Gln572Ter	coding	Pathogenic
8	60781069	C	T	C60781069T	CHD7	NM_017780.4(CHD7):c.1735C>T:p.Gln579Ter	coding	Pathogenic
8	60781292	C	T	C60781292T	CHD7	NM_017780.4(CHD7):c.1958C>T:p.Pro653Leu	coding	Benign
8	60781346	C	T	C60781346T	CHD7	NM_017780.4(CHD7):c.2012C>T:p.Pro671Leu	coding	Benign/Likely_benign
8	60781420	A	T	A60781420T	CHD7	NM_017780.4(CHD7):c.2086A>T:p.Lys696Ter	coding	Pathogenic
8	60794985	G	C	G60794985C	CHD7	NM_017780.4(CHD7):c.2097-1G>C	noncoding	Pathogenic
8	60795003	C	G	C60795003G	CHD7	NM_017780.4(CHD7):c.2114C>G:p.Ser705Ter	coding	Pathogenic
8	60795013	T	C	T60795013C	CHD7	NM_017780.4(CHD7):c.2124T>C:p.Ser708=	coding	Benign
8	60795104	G	T	G60795104T	CHD7	NM_017780.4(CHD7):c.2215G>T:p.Glu739Ter	coding	Pathogenic
8	60795119	G	A	G60795119A	CHD7	NM_017780.4(CHD7):c.2230G>A:p.Gly744Ser	coding	Benign/Likely_benign
8	60795128	G	A	G60795128A	CHD7	NM_017780.4(CHD7):c.2238+1G>A	coding	Pathogenic
8	60795166	G	A	G60795166A	CHD7	NM_017780.4(CHD7):c.2238+39G>A	noncoding	Benign
8	60800406	C	T	C60800406T	CHD7	NM_017780.4(CHD7):c.2257C>T:p.Gln753Ter	coding	Pathogenic
8	60800672	C	A	C60800672A	CHD7	NM_017780.4(CHD7):c.2376+147C>A	noncoding	Benign
8	60801591	C	T	C60801591T	CHD7	NM_017780.4(CHD7):c.2440C>T:p.Gln814Ter	coding	Pathogenic
8	60801594	G	T	G60801594T	CHD7	NM_017780.4(CHD7):c.2442+1G>T	coding	Pathogenic
8	60801598	G	C	G60801598C	CHD7	NM_017780.4(CHD7):c.2442+5G>C	noncoding	Pathogenic
8	60801631	A	T	A60801631T	CHD7	NM_017780.4(CHD7):c.2442+38A>T	noncoding	Benign
8	60808284	G	T	G60808284T	CHD7	NM_017780.4(CHD7):c.2498+12G>T	noncoding	Benign
8	60816389	C	T	C60816389T	CHD7	NM_017780.4(CHD7):c.2501C>T:p.Ser834Phe	coding	Pathogenic
8	60816408	G	A	G60816408A	CHD7	NM_017780.4(CHD7):c.2520G>A:p.Trp840Ter	coding	Pathogenic
8	60816460	C	T	C60816460T	CHD7	NM_017780.4(CHD7):c.2572C>T:p.Arg858Ter	coding	Pathogenic
8	60816502	G	A	G60816502A	CHD7	NM_017780.4(CHD7):c.2613+1G>A	coding	Pathogenic
8	60816506	G	A	G60816506A	CHD7	NM_017780.4(CHD7):c.2613+5G>A	noncoding	Pathogenic
8	60816714	T	G	T60816714G	CHD7	NM_017780.4(CHD7):c.2613+213T>G	noncoding	Benign
8	60819959	C	G	C60819959G	CHD7	NM_017780.4(CHD7):c.2614-48C>G	noncoding	Benign
8	60819962	A	G	A60819962G	CHD7	NM_017780.4(CHD7):c.2614-45A>G	noncoding	Benign
8	60820036	T	G	T60820036G	CHD7	NM_017780.4(CHD7):c.2643T>G:p.Tyr881Ter	coding	Pathogenic
8	60820073	A	G	A60820073G	CHD7	NM_017780.4(CHD7):c.2680A>G:p.Thr894Ala	coding	Benign/Likely_benign
8	60821821	C	G	C60821821G	CHD7	NM_017780.4(CHD7):c.2729C>G:p.Ser910Ter	coding	Pathogenic
8	60821832	G	T	G60821832T	CHD7	NM_017780.4(CHD7):c.2740G>T:p.Glu914Ter	coding	Pathogenic
8	60821907	G	T	G60821907T	CHD7	NM_017780.4(CHD7):c.2815G>T:p.Glu939Ter	coding	Pathogenic
8	60821921	G	A	G60821921A	CHD7	NM_017780.4(CHD7):c.2829G>A:p.Glu943=	coding	Benign/Likely_benign
8	60821923	G	A	G60821923A	CHD7	NM_017780.4(CHD7):c.2831G>A:p.Arg944His	coding	Benign/Likely_benign
8	60822022	A	T	A60822022T	CHD7	NM_017780.4(CHD7):c.2836-2A>T	noncoding	Pathogenic/Likely_pathogenic
8	60822023	G	A	G60822023A	CHD7	NM_017780.4(CHD7):c.2836-1G>A	noncoding	Pathogenic
8	60822027	C	T	C60822027T	CHD7	NM_017780.4(CHD7):c.2839C>T:p.Arg947Ter	coding	Pathogenic
8	60822046	G	A	G60822046A	CHD7	NM_017780.4(CHD7):c.2858G>A:p.Trp953Ter	coding	Pathogenic
8	60822103	A	G	A60822103G	CHD7	NM_017780.4(CHD7):c.2915A>G:p.Gln972Arg	coding	Pathogenic/Likely_pathogenic
8	60822121	G	A	G60822121A	CHD7	NM_017780.4(CHD7):c.2933G>A:p.Trp978Ter	coding	Pathogenic
8	60822150	G	A	G60822150A	CHD7	NM_017780.4(CHD7):c.2957+5G>A	noncoding	Pathogenic
8	60822504	C	T	C60822504T	CHD7	NM_017780.4(CHD7):c.2959C>T:p.Arg987Ter	coding	Pathogenic
8	60822599	T	G	T60822599G	CHD7	NM_017780.4(CHD7):c.3054T>G:p.Pro1018=	coding	Benign
8	60822627	A	G	A60822627G	CHD7	NM_017780.4(CHD7):c.3082A>G:p.Ile1028Val	coding	Pathogenic
8	60822634	A	G	A60822634G	CHD7	NM_017780.4(CHD7):c.3089A>G:p.Asn1030Ser	coding	Pathogenic
8	60822636	T	G	T60822636G	CHD7	NM_017780.4(CHD7):c.3091T>G:p.Trp1031Gly	coding	Pathogenic
8	60822638	G	C	G60822638C	CHD7	NM_017780.4(CHD7):c.3093G>C:p.Trp1031Cys	coding	Pathogenic
8	60822651	C	T	C60822651T	CHD7	NM_017780.4(CHD7):c.3106C>T:p.Arg1036Ter	coding	Pathogenic
8	60822671	C	T	C60822671T	CHD7	NM_017780.4(CHD7):c.3126C>T:p.Asn1042=	coding	Benign
8	60823835	T	C	T60823835C	CHD7	NM_017780.4(CHD7):c.3202-5T>C	noncoding	Benign/Likely_benign
8	60823837	T	G	T60823837G	CHD7	NM_017780.4(CHD7):c.3202-3T>G	noncoding	Pathogenic
8	60823843	C	T	C60823843T	CHD7	NM_017780.4(CHD7):c.3205C>T:p.Arg1069Ter	coding	Pathogenic
8	60823939	T	C	T60823939C	CHD7	NM_017780.4(CHD7):c.3301T>C:p.Cys1101Arg	coding	Pathogenic
8	60823940	G	A	G60823940A	CHD7	NM_017780.4(CHD7):c.3302G>A:p.Cys1101Tyr	coding	Pathogenic
8	60828661	A	C	A60828661C	CHD7	NM_017780.4(CHD7):c.3379-2A>C	noncoding	Pathogenic/Likely_pathogenic
8	60828663	G	T	G60828663T	CHD7	NM_017780.4(CHD7):c.3379G>T:p.Glu1127Ter	coding	Pathogenic
8	60828682	C	T	C60828682T	CHD7	NM_017780.4(CHD7):c.3398C>T:p.Thr1133Met	coding	Pathogenic/Likely_pathogenic
8	60828696	C	T	C60828696T	CHD7	NM_017780.4(CHD7):c.3412C>T:p.Gln1138Ter	coding	Pathogenic
8	60828774	C	T	C60828774T	CHD7	NM_017780.4(CHD7):c.3490C>T:p.Gln1164Ter	coding	Pathogenic
8	60830287	C	G	C60830287G	CHD7	NM_017780.4(CHD7):c.3523-35C>G	noncoding	Benign
8	60830325	C	T	C60830325T	CHD7	NM_017780.4(CHD7):c.3526C>T:p.Gln1176Ter	coding	Pathogenic
8	60830422	T	A	T60830422A	CHD7	NM_017780.4(CHD7):c.3623T>A:p.Val1208Asp	coding	Pathogenic/Likely_pathogenic
8	60830440	A	C	A60830440C	CHD7	NM_017780.4(CHD7):c.3641A>C:p.Gln1214Pro	coding	Pathogenic
8	60830454	C	T	C60830454T	CHD7	NM_017780.4(CHD7):c.3655C>T:p.Arg1219Ter	coding	Pathogenic
8	60830496	G	A	G60830496A	CHD7	NM_017780.4(CHD7):c.3697G>A:p.Gly1233Ser	coding	Benign/Likely_benign
8	60830567	C	G	C60830567G	CHD7	NM_017780.4(CHD7):c.3768C>G:p.Tyr1256Ter	coding	Pathogenic
8	60830569	T	G	T60830569G	CHD7	NM_017780.4(CHD7):c.3770T>G:p.Leu1257Arg	coding	Pathogenic
8	60835856	G	A	G60835856A	CHD7	NM_017780.4(CHD7):c.3779-217G>A	noncoding	Benign
8	60836105	G	T	G60836105T	CHD7	NM_017780.4(CHD7):c.3811G>T:p.Glu1271Ter	coding	Pathogenic
8	60836153	C	T	C60836153T	CHD7	NM_017780.4(CHD7):c.3859C>T:p.Gln1287Ter	coding	Pathogenic
8	60836175	T	C	T60836175C	CHD7	NM_017780.4(CHD7):c.3881T>C:p.Leu1294Pro	coding	Pathogenic/Likely_pathogenic
8	60836199	T	C	T60836199C	CHD7	NM_017780.4(CHD7):c.3905T>C:p.Leu1302Pro	coding	Pathogenic
8	60836842	C	T	C60836842T	CHD7	NM_017780.4(CHD7):c.4015C>T:p.Arg1339Ter	coding	Pathogenic
8	60836939	T	G	T60836939G	CHD7	NM_017780.4(CHD7):c.4112T>G:p.Leu1371Ter	coding	Pathogenic
8	60837013	G	A	G60837013A	CHD7	NM_017780.4(CHD7):c.4185+1G>A	coding	Pathogenic
8	60837443	A	G	A60837443G	CHD7	NM_017780.4(CHD7):c.4186-225A>G	noncoding	Benign
8	60837671	C	T	C60837671T	CHD7	NM_017780.4(CHD7):c.4189C>T:p.Gln1397Ter	coding	Pathogenic
8	60837800	C	T	C60837800T	CHD7	NM_017780.4(CHD7):c.4318C>T:p.Gln1440Ter	coding	Pathogenic
8	60837836	G	T	G60837836T	CHD7	NM_017780.4(CHD7):c.4353+1G>T	coding	Pathogenic
8	60838115	C	T	C60838115T	CHD7	NM_017780.4(CHD7):c.4393C>T:p.Arg1465Ter	coding	Pathogenic
8	60838129	T	G	T60838129G	CHD7	NM_017780.4(CHD7):c.4407T>G:p.Tyr1469Ter	coding	Pathogenic
8	60838202	C	T	C60838202T	CHD7	NM_017780.4(CHD7):c.4480C>T:p.Arg1494Ter	coding	Pathogenic
8	60838229	G	T	G60838229T	CHD7	NM_017780.4(CHD7):c.4507G>T:p.Glu1503Ter	coding	Pathogenic
8	60838256	G	A	G60838256A	CHD7	NM_017780.4(CHD7):c.4533+1G>A	coding	Pathogenic
8	60838301	A	G	A60838301G	CHD7	NM_017780.4(CHD7):c.4533+46A>G	noncoding	Benign
8	60841719	A	T	A60841719T	CHD7	NM_017780.4(CHD7):c.4609A>T:p.Lys1537Ter	coding	Pathogenic
8	60841790	C	T	C60841790T	CHD7	NM_017780.4(CHD7):c.4644+36C>T	noncoding	Benign
8	60841940	G	T	G60841940T	CHD7	NM_017780.4(CHD7):c.4738G>T:p.Glu1580Ter	coding	Pathogenic
8	60841995	C	G	C60841995G	CHD7	NM_017780.4(CHD7):c.4793C>G:p.Ser1598Ter	coding	Pathogenic
8	60841997	C	T	C60841997T	CHD7	NM_017780.4(CHD7):c.4795C>T:p.Gln1599Ter	coding	Pathogenic
8	60845036	C	T	C60845036T	CHD7	NM_017780.4(CHD7):c.5023C>T:p.Gln1675Ter	coding	Pathogenic
8	60845042	C	T	C60845042T	CHD7	NM_017780.4(CHD7):c.5029C>T:p.Arg1677Ter	coding	Pathogenic
8	60845063	G	A	G60845063A	CHD7	NM_017780.4(CHD7):c.5050G>A:p.Gly1684Ser	coding	Pathogenic
8	60845064	G	A	G60845064A	CHD7	NM_017780.4(CHD7):c.5050+1G>A	coding	Pathogenic
8	60845246	C	A	C60845246A	CHD7	NM_017780.4(CHD7):c.5051-4C>A	noncoding	Benign
8	60845246	C	T	C60845246T	CHD7	NM_017780.4(CHD7):c.5051-4C>T	noncoding	Benign
8	60845249	G	A	G60845249A	CHD7	NM_017780.4(CHD7):c.5051-1G>A	noncoding	Pathogenic
8	60845309	C	T	C60845309T	CHD7	NM_017780.4(CHD7):c.5110C>T:p.Gln1704Ter	coding	Pathogenic
8	60845380	C	G	C60845380G	CHD7	NM_017780.4(CHD7):c.5181C>G:p.Tyr1727Ter	coding	Pathogenic
8	60845411	T	C	T60845411C	CHD7	NM_017780.4(CHD7):c.5210+2T>C	noncoding	Pathogenic/Likely_pathogenic
8	60845412	A	G	A60845412G	CHD7	NM_017780.4(CHD7):c.5210+3A>G	noncoding	Pathogenic
8	60845695	G	A	G60845695A	CHD7	NM_017780.4(CHD7):c.5210+286G>A	noncoding	Benign
8	60848513	A	G	A60848513G	CHD7	NM_017780.4(CHD7):c.5211-2A>G	noncoding	Pathogenic
8	60848514	G	C	G60848514C	CHD7	NM_017780.4(CHD7):c.5211-1G>C	noncoding	Pathogenic
8	60848542	C	G	C60848542G	CHD7	NM_017780.4(CHD7):c.5238C>G:p.Tyr1746Ter	coding	Pathogenic
8	60848547	T	G	T60848547G	CHD7	NM_017780.4(CHD7):c.5243T>G:p.Leu1748Arg	coding	Pathogenic
8	60848612	C	T	C60848612T	CHD7	NM_017780.4(CHD7):c.5300+8C>T	noncoding	Benign/Likely_benign
8	60849057	C	T	C60849057T	CHD7	NM_017780.4(CHD7):c.5307C>T:p.Ala1769=	coding	Benign
8	60849065	G	A	G60849065A	CHD7	NM_017780.4(CHD7):c.5315G>A:p.Trp1772Ter	coding	Pathogenic
8	60849105	G	A	G60849105A	CHD7	NM_017780.4(CHD7):c.5355G>A:p.Trp1785Ter	coding	Pathogenic/Likely_pathogenic
8	60849107	G	A	G60849107A	CHD7	NM_017780.4(CHD7):c.5357G>A:p.Trp1786Ter	coding	Pathogenic
8	60850475	C	A	C60850475A	CHD7	NM_017780.4(CHD7):c.5405-18C>A	noncoding	Pathogenic
8	60850476	G	A	G60850476A	CHD7	NM_017780.4(CHD7):c.5405-17G>A	noncoding	Pathogenic/Likely_pathogenic
8	60850480	G	A	G60850480A	CHD7	NM_017780.4(CHD7):c.5405-13G>A	noncoding	Pathogenic
8	60850486	G	A	G60850486A	CHD7	NM_017780.4(CHD7):c.5405-7G>A	noncoding	Pathogenic
8	60850491	A	G	A60850491G	CHD7	NM_017780.4(CHD7):c.5405-2A>G	noncoding	Pathogenic
8	60850493	G	A	G60850493A	CHD7	NM_017780.4(CHD7):c.5405G>A:p.Gly1802Asp	coding	Pathogenic
8	60850497	T	G	T60850497G	CHD7	NM_017780.4(CHD7):c.5409T>G:p.Tyr1803Ter	coding	Pathogenic/Likely_pathogenic
8	60850506	C	G	C60850506G	CHD7	NM_017780.4(CHD7):c.5418C>G:p.Tyr1806Ter	coding	Pathogenic
8	60850514	T	G	T60850514G	CHD7	NM_017780.4(CHD7):c.5426T>G:p.Met1809Arg	coding	Pathogenic
8	60850516	C	T	C60850516T	CHD7	NM_017780.4(CHD7):c.5428C>T:p.Arg1810Ter	coding	Pathogenic
8	60850546	C	T	C60850546T	CHD7	NM_017780.4(CHD7):c.5458C>T:p.Arg1820Ter	coding	Pathogenic
8	60850623	G	A	G60850623A	CHD7	NM_017780.4(CHD7):c.5534+1G>A	coding	Pathogenic
8	60851048	G	T	G60851048T	CHD7	NM_017780.4(CHD7):c.5551G>T:p.Glu1851Ter	coding	Pathogenic
8	60851105	G	A	G60851105A	CHD7	NM_017780.4(CHD7):c.5607+1G>A	coding	Pathogenic/Likely_pathogenic
8	60851517	A	G	A60851517G	CHD7	NM_017780.4(CHD7):c.5665+198A>G	noncoding	Benign
8	60851830	G	T	G60851830T	CHD7	NM_017780.4(CHD7):c.5666-189G>T	noncoding	Benign
8	60852017	A	C	A60852017C	CHD7	NM_017780.4(CHD7):c.5666-2A>C	noncoding	Pathogenic
8	60852042	G	A	G60852042A	CHD7	NM_017780.4(CHD7):c.5689G>A:p.Glu1897Lys	coding	Benign
8	60852059	C	G	C60852059G	CHD7	NM_017780.4(CHD7):c.5706C>G:p.Tyr1902Ter	coding	Pathogenic
8	60852098	G	A	G60852098A	CHD7	NM_017780.4(CHD7):c.5745G>A:p.Arg1915=	coding	Benign
8	60852107	T	C	T60852107C	CHD7	NM_017780.4(CHD7):c.5754T>C:p.Thr1918=	coding	Benign
8	60852110	C	G	C60852110G	CHD7	NM_017780.4(CHD7):c.5757C>G:p.Ala1919=	coding	Benign/Likely_benign
8	60852186	C	T	C60852186T	CHD7	NM_017780.4(CHD7):c.5833C>T:p.Arg1945Ter	coding	Pathogenic
8	60852279	C	G	C60852279G	CHD7	NM_017780.4(CHD7):c.5894+32C>G	noncoding	Benign
8	60852497	G	C	G60852497C	CHD7	NM_017780.4(CHD7):c.5895-1G>C	noncoding	Pathogenic
8	60852571	C	T	C60852571T	CHD7	NM_017780.4(CHD7):c.5968C>T:p.Gln1990Ter	coding	Pathogenic
8	60852574	C	T	C60852574T	CHD7	NM_017780.4(CHD7):c.5971C>T:p.Gln1991Ter	coding	Pathogenic
8	60852673	C	T	C60852673T	CHD7	NM_017780.4(CHD7):c.6070C>T:p.Arg2024Ter	coding	Pathogenic
8	60852682	C	T	C60852682T	CHD7	NM_017780.4(CHD7):c.6079C>T:p.Arg2027Ter	coding	Pathogenic
8	60852714	C	T	C60852714T	CHD7	NM_017780.4(CHD7):c.6103+8C>T	noncoding	Benign
8	60852836	C	T	C60852836T	CHD7	NM_017780.4(CHD7):c.6111C>T:p.Pro2037=	coding	Benign
8	60852860	G	A	G60852860A	CHD7	NM_017780.4(CHD7):c.6135G>A:p.Pro2045=	coding	Benign
8	60852873	C	T	C60852873T	CHD7	NM_017780.4(CHD7):c.6148C>T:p.Arg2050Ter	coding	Pathogenic
8	60852882	C	T	C60852882T	CHD7	NM_017780.4(CHD7):c.6157C>T:p.Arg2053Ter	coding	Pathogenic
8	60852900	G	T	G60852900T	CHD7	NM_017780.4(CHD7):c.6175G>T:p.Glu2059Ter	coding	Pathogenic
8	60852924	C	T	C60852924T	CHD7	NM_017780.4(CHD7):c.6199C>T:p.Gln2067Ter	coding	Pathogenic
8	60852968	C	A	C60852968A	CHD7	NM_017780.4(CHD7):c.6243C>A:p.Cys2081Ter	coding	Pathogenic
8	60852997	G	A	G60852997A	CHD7	NM_017780.4(CHD7):c.6272G>A:p.Trp2091Ter	coding	Pathogenic
8	60853001	G	A	G60853001A	CHD7	NM_017780.4(CHD7):c.6276G>A:p.Glu2092=	coding	Benign
8	60853007	A	G	A60853007G	CHD7	NM_017780.4(CHD7):c.6282A>G:p.Gly2094=	coding	Benign/Likely_benign
8	60853017	C	T	C60853017T	CHD7	NM_017780.4(CHD7):c.6292C>T:p.Arg2098Ter	coding	Pathogenic
8	60853047	G	A	G60853047A	CHD7	NM_017780.4(CHD7):c.6322G>A:p.Gly2108Arg	coding	Pathogenic
8	60853179	C	T	C60853179T	CHD7	NM_017780.4(CHD7):c.6454C>T:p.Gln2152Ter	coding	Pathogenic
8	60853193	C	T	C60853193T	CHD7	NM_017780.4(CHD7):c.6468C>T:p.Val2156=	coding	Benign/Likely_benign
8	60853198	C	A	C60853198A	CHD7	NM_017780.4(CHD7):c.6473C>A:p.Ser2158Ter	coding	Pathogenic
8	60853203	G	A	G60853203A	CHD7	NM_017780.4(CHD7):c.6478G>A:p.Ala2160Thr	coding	Benign/Likely_benign
8	60853254	G	T	G60853254T	CHD7	NM_017780.4(CHD7):c.6529G>T:p.Glu2177Ter	coding	Pathogenic
8	60853338	C	T	C60853338T	CHD7	NM_017780.4(CHD7):c.6613C>T:p.Gln2205Ter	coding	Pathogenic
8	60853385	T	G	T60853385G	CHD7	NM_017780.4(CHD7):c.6660T>G:p.Gly2220=	coding	Benign/Likely_benign
8	60853463	G	A	G60853463A	CHD7	NM_017780.4(CHD7):c.6738G>A:p.Glu2246=	coding	Benign
8	60853482	G	T	G60853482T	CHD7	NM_017780.4(CHD7):c.6757G>T:p.Glu2253Ter	coding	Pathogenic
8	60853501	G	T	G60853501T	CHD7	NM_017780.4(CHD7):c.6775+1G>T	coding	Pathogenic
8	60854430	T	G	T60854430G	CHD7	NM_017780.4(CHD7):c.6843T>G:p.Asp2281Glu	coding	Benign
8	60854437	C	T	C60854437T	CHD7	NM_017780.4(CHD7):c.6850C>T:p.Arg2284Ter	coding	Pathogenic
8	60854479	C	T	C60854479T	CHD7	NM_017780.4(CHD7):c.6892C>T:p.Gln2298Ter	coding	Pathogenic
8	60854511	G	A	G60854511A	CHD7	NM_017780.4(CHD7):c.6924G>A:p.Ser2308=	coding	Benign/Likely_benign
8	60854831	G	C	G60854831C	CHD7	NM_017780.4(CHD7):c.6936+308G>C	noncoding	Benign
8	60855973	A	G	A60855973G	CHD7	NM_017780.4(CHD7):c.6937-2A>G	noncoding	Pathogenic
8	60855993	C	A	C60855993A	CHD7	NM_017780.4(CHD7):c.6955C>A:p.Arg2319Ser	coding	Pathogenic
8	60855993	C	T	C60855993T	CHD7	NM_017780.4(CHD7):c.6955C>T:p.Arg2319Cys	coding	Pathogenic
8	60856028	C	T	C60856028T	CHD7	NM_017780.4(CHD7):c.6990C>T:p.Gly2330=	coding	Benign
8	60856033	G	A	G60856033A	CHD7	NM_017780.4(CHD7):c.6995G>A:p.Trp2332Ter	coding	Pathogenic
8	60856116	A	T	A60856116T	CHD7	NM_017780.4(CHD7):c.7078A>T:p.Lys2360Ter	coding	Pathogenic
8	60856170	G	T	G60856170T	CHD7	NM_017780.4(CHD7):c.7132G>T:p.Glu2378Ter	coding	Pathogenic
8	60856440	A	G	A60856440G	CHD7	NM_017780.4(CHD7):c.7165-5A>G	noncoding	Benign/Likely_benign
8	60856441	A	G	A60856441G	CHD7	NM_017780.4(CHD7):c.7165-4A>G	noncoding	Pathogenic
8	60856489	G	A	G60856489A	CHD7	NM_017780.4(CHD7):c.7209G>A:p.Arg2403=	coding	Benign/Likely_benign
8	60856502	G	T	G60856502T	CHD7	NM_017780.4(CHD7):c.7222G>T:p.Glu2408Ter	coding	Pathogenic
8	60856526	A	T	A60856526T	CHD7	NM_017780.4(CHD7):c.7246A>T:p.Lys2416Ter	coding	Pathogenic
8	60856532	C	T	C60856532T	CHD7	NM_017780.4(CHD7):c.7252C>T:p.Arg2418Ter	coding	Pathogenic
8	60856558	G	A	G60856558A	CHD7	NM_017780.4(CHD7):c.7278G>A:p.Gln2426=	coding	Benign/Likely_benign
8	60856562	C	T	C60856562T	CHD7	NM_017780.4(CHD7):c.7282C>T:p.Arg2428Ter	coding	Pathogenic
8	60856565	G	T	G60856565T	CHD7	NM_017780.4(CHD7):c.7285G>T:p.Glu2429Ter	coding	Pathogenic/Likely_pathogenic
8	60856592	C	T	C60856592T	CHD7	NM_017780.4(CHD7):c.7312C>T:p.Gln2438Ter	coding	Pathogenic
8	60856593	A	C	A60856593C	CHD7	NM_017780.4(CHD7):c.7313A>C:p.Gln2438Pro	coding	Benign/Likely_benign
8	60856636	A	G	A60856636G	CHD7	NM_017780.4(CHD7):c.7356A>G:p.Thr2452=	coding	Benign
8	60856831	A	G	A60856831G	CHD7	NM_017780.4(CHD7):c.7551A>G:p.Lys2517=	coding	Benign/Likely_benign
8	60856859	A	C	A60856859C	CHD7	NM_017780.4(CHD7):c.7579A>C:p.Met2527Leu	coding	Benign/Likely_benign
8	60860976	G	T	G60860976T	CHD7	NM_017780.4(CHD7):c.7681G>T:p.Gly2561Ter	coding	Pathogenic
8	60861076	G	A	G60861076A	CHD7	NM_017780.4(CHD7):c.7781G>A:p.Trp2594Ter	coding	Pathogenic
8	60861098	C	A	C60861098A	CHD7	NM_017780.4(CHD7):c.7803C>A:p.Tyr2601Ter	coding	Pathogenic
8	60861098	C	G	C60861098G	CHD7	NM_017780.4(CHD7):c.7803C>G:p.Tyr2601Ter	coding	Pathogenic
8	60861119	T	G	T60861119G	CHD7	NM_017780.4(CHD7):c.7824T>G:p.Tyr2608Ter	coding	Pathogenic
8	60862244	C	T	C60862244T	CHD7	NM_017780.4(CHD7):c.7879C>T:p.Arg2627Ter	coding	Pathogenic
8	60862256	C	T	C60862256T	CHD7	NM_017780.4(CHD7):c.7891C>T:p.Arg2631Ter	coding	Pathogenic
8	60862322	C	T	C60862322T	CHD7	NM_017780.4(CHD7):c.7957C>T:p.Arg2653Ter	coding	Pathogenic
8	60862337	G	A	G60862337A	CHD7	NM_017780.4(CHD7):c.7971+1G>A	coding	Pathogenic
8	60862591	G	A	G60862591A	CHD7	NM_017780.4(CHD7):c.8015G>A:p.Trp2672Ter	coding	Pathogenic
8	60862599	G	T	G60862599T	CHD7	NM_017780.4(CHD7):c.8023G>T:p.Glu2675Ter	coding	Pathogenic
8	60862623	C	T	C60862623T	CHD7	NM_017780.4(CHD7):c.8047C>T:p.Pro2683Ser	coding	Benign/Likely_benign
8	60862631	G	A	G60862631A	CHD7	NM_017780.4(CHD7):c.8055G>A:p.Trp2685Ter	coding	Pathogenic
8	60862653	G	C	G60862653C	CHD7	NM_017780.4(CHD7):c.8076+1G>C	coding	Pathogenic
8	60865014	A	G	A60865014G	CHD7	NM_017780.4(CHD7):c.8077-2A>G	noncoding	Pathogenic
8	60865015	G	C	G60865015C	CHD7	NM_017780.4(CHD7):c.8077-1G>C	noncoding	Pathogenic
8	60865189	T	G	T60865189G	CHD7	NM_017780.4(CHD7):c.8250T>G:p.Phe2750Leu	coding	Benign/Likely_benign
8	60865355	C	G	C60865355G	CHD7	NM_017780.4(CHD7):c.8416C>G:p.Leu2806Val	coding	Benign/Likely_benign
8	60865378	C	T	C60865378T	CHD7	NM_017780.4(CHD7):c.8439C>T:p.Gly2813=	coding	Benign
8	60865416	A	G	A60865416G	CHD7	NM_017780.4(CHD7):c.8477A>G:p.Asn2826Ser	coding	Benign
8	60865427	G	A	G60865427A	CHD7	NM_017780.4(CHD7):c.8488G>A:p.Ala2830Thr	coding	Benign/Likely_benign
8	60865600	G	A	G60865600A	CHD7	NM_017780.4(CHD7):c.8661G>A:p.Pro2887=	coding	Benign/Likely_benign
8	60865729	C	T	C60865729T	CHD7	NM_017780.4(CHD7):c.8790C>T:p.Ala2930=	coding	Benign/Likely_benign
8	60865889	C	T	C60865889T	CHD7	NM_017780.4(CHD7):c.8950C>T:p.Leu2984Phe	coding	Benign/Likely_benign
8	60866029	C	A	C60866029A	CHD7	NM_017780.4(CHD7):c.*96C>A	noncoding	Benign
8	60866898	G	A	G60866898A	CHD7	NM_017780.4(CHD7):c.*965G>A	noncoding	Benign
8	60867122	A	C	A60867122C	CHD7	NM_017780.4(CHD7):c.*1189A>C	noncoding	Benign
8	60867377	T	G	T60867377G	CHD7	NM_017780.4(CHD7):c.*1444T>G	noncoding	Benign
8	60867428	C	T	C60867428T	CHD7	NM_017780.4(CHD7):c.*1495C>T	noncoding	Benign
8	60867512	A	G	A60867512G	CHD7	NM_017780.4(CHD7):c.*1579A>G	noncoding	Benign
8	60867661	T	C	T60867661C	CHD7	NM_017780.4(CHD7):c.*1728T>C	noncoding	Benign
8	60867730	C	T	C60867730T	CHD7	NM_017780.4(CHD7):c.*1797C>T	noncoding	Benign
8	61503433	G	A	G61503433A	ASPH	NM_004318.4(ASPH):c.2203C>T:p.Arg735Trp	coding	Pathogenic
8	61562779	C	T	C61562779T	ASPH	NM_004318.4(ASPH):c.1402G>A:p.Gly468Arg	coding	Benign
8	61583980	T	C	T61583980C	ASPH	NM_004318.4(ASPH):c.1026A>G:p.Lys342=	coding	Benign
8	61583986	A	G	A61583986G	ASPH	NM_004318.4(ASPH):c.1020T>C:p.Thr340=	coding	Benign
8	61684121	C	T	C61684121T	ASPH	NM_004318.4(ASPH):c.171G>A:p.Trp57Ter	coding	Pathogenic
8	61714303	C	A	C61714303A	ASPH	NM_004318.4(ASPH):c.69G>T:p.Thr23=	coding	Benign
8	63030174	T	C	T63030174C	GGH	NM_003878.3(GGH):c.268A>G:p.Ile90Val	coding	Benign
8	63035706	C	T	C63035706T	GGH	NM_003878.3(GGH):c.174G>A:p.Ala58=	coding	Benign
8	63060159	C	T	C63060159T	TTPA	NM_000370.3(TTPA):c.*1093G>A	noncoding	Benign
8	63060470	G	A	G63060470A	TTPA	NM_000370.3(TTPA):c.*782C>T	noncoding	Benign
8	63061353	C	G	C63061353G	TTPA	NM_000370.3(TTPA):c.736G>C:p.Gly246Arg	coding	Pathogenic
8	63061429	A	C	A63061429C	TTPA	NM_000370.3(TTPA):c.664-4T>G	noncoding	Benign
8	63064195	A	G	A63064195G	TTPA	NM_000370.3(TTPA):c.663+11T>C	noncoding	Benign
8	63064274	C	A	C63064274A	TTPA	NM_000370.3(TTPA):c.595G>T:p.Glu199Ter	coding	Pathogenic
8	63065902	A	T	A63065902T	TTPA	NM_000370.3(TTPA):c.552+2T>A	noncoding	Pathogenic
8	63065908	A	G	A63065908G	TTPA	NM_000370.3(TTPA):c.548T>C:p.Leu183Pro	coding	Pathogenic
8	63065985	G	T	G63065985T	TTPA	NM_000370.3(TTPA):c.471C>A:p.Ile157=	coding	Benign
8	63066035	C	T	C63066035T	TTPA	NM_000370.3(TTPA):c.421G>A:p.Glu141Lys	coding	Pathogenic
8	63066056	G	A	G63066056A	TTPA	NM_000370.3(TTPA):c.400C>T:p.Arg134Ter	coding	Pathogenic/Likely_pathogenic
8	63066090	C	T	C63066090T	TTPA	NM_000370.3(TTPA):c.366G>A:p.Trp122Ter	coding	Pathogenic
8	63072990	A	C	A63072990C	TTPA	NM_000370.3(TTPA):c.303T>G:p.His101Gln	coding	Pathogenic
8	63073089	C	A	C63073089A	TTPA	NM_000370.3(TTPA):c.205-1G>T	coding	Pathogenic
8	63073089	C	G	C63073089G	TTPA	NM_000370.3(TTPA):c.205-1G>C	coding	Pathogenic/Likely_pathogenic
8	63085831	T	C	T63085831C	TTPA	NM_000370.3(TTPA):c.191A>G:p.Asp64Gly	coding	Pathogenic
8	63085875	G	A	G63085875A	TTPA	NM_000370.3(TTPA):c.147C>T:p.Asp49=	coding	Benign
8	63085974	C	T	C63085974T	TTPA	NM_000370.3(TTPA):c.48G>A:p.Ala16=	coding	Benign
8	63085998	G	C	G63085998C	TTPA	NM_000370.3(TTPA):c.24C>G:p.Pro8=	coding	Benign
8	63086020	A	G	A63086020G	TTPA	NM_000370.3(TTPA):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
8	64596113	T	C	T64596113C	CYP7B1	NM_004820.5(CYP7B1):c.*529A>G	noncoding	Benign
8	64596593	G	A	G64596593A	CYP7B1	NM_004820.5(CYP7B1):c.*49C>T	noncoding	Benign
8	64596707	G	A	G64596707A	CYP7B1	NM_004820.5(CYP7B1):c.1456C>T:p.Arg486Cys	coding	Pathogenic/Likely_pathogenic
8	64596755	A	T	A64596755T	CYP7B1	NM_004820.5(CYP7B1):c.1408T>A:p.Phe470Ile	coding	Pathogenic
8	64596913	C	T	C64596913T	CYP7B1	NM_004820.5(CYP7B1):c.1250G>A:p.Arg417His	coding	Pathogenic/Likely_pathogenic
8	64596914	G	A	G64596914A	CYP7B1	NM_004820.5(CYP7B1):c.1249C>T:p.Arg417Cys	coding	Pathogenic
8	64604753	G	A	G64604753A	CYP7B1	NM_004820.5(CYP7B1):c.1162C>T:p.Arg388Ter	coding	Pathogenic
8	64604824	G	A	G64604824A	CYP7B1	NM_004820.5(CYP7B1):c.1091C>T:p.Ser364Leu	coding	Pathogenic
8	64604827	G	A	G64604827A	CYP7B1	NM_004820.5(CYP7B1):c.1088C>T:p.Ser363Phe	coding	Pathogenic
8	64615112	C	T	C64615112T	CYP7B1	NM_004820.5(CYP7B1):c.971G>A:p.Arg324His	coding	Benign
8	64615122	C	T	C64615122T	CYP7B1	NM_004820.5(CYP7B1):c.961G>A:p.Glu321Lys	coding	Pathogenic
8	64615194	T	C	T64615194C	CYP7B1	NM_004820.5(CYP7B1):c.889A>G:p.Thr297Ala	coding	Pathogenic
8	64615534	T	A	T64615534A	CYP7B1	NM_004820.5(CYP7B1):c.850+157A>T	noncoding	Benign
8	64615716	A	T	A64615716T	CYP7B1	NM_004820.5(CYP7B1):c.825T>A:p.Tyr275Ter	coding	Pathogenic
8	64615748	G	A	G64615748A	CYP7B1	NM_004820.5(CYP7B1):c.793C>T:p.Gln265Ter	coding	Pathogenic
8	64615894	A	G	A64615894G	CYP7B1	NM_004820.5(CYP7B1):c.647T>C:p.Phe216Ser	coding	Pathogenic
8	64616016	C	T	C64616016T	CYP7B1	NM_004820.5(CYP7B1):c.525G>A:p.Trp175Ter	coding	Pathogenic
8	64616207	G	A	G64616207A	CYP7B1	NM_004820.5(CYP7B1):c.334C>T:p.Arg112Ter	coding	Pathogenic
8	64616281	C	A	C64616281A	CYP7B1	NM_004820.5(CYP7B1):c.260G>T:p.Gly87Val	coding	Pathogenic
8	64624122	T	A	T64624122A	CYP7B1	NM_004820.5(CYP7B1):c.259+281A>T	noncoding	Benign
8	64624401	A	G	A64624401G	CYP7B1	NM_004820.5(CYP7B1):c.259+2T>C	noncoding	Pathogenic
8	64624475	G	A	G64624475A	CYP7B1	NM_004820.5(CYP7B1):c.187C>T:p.Arg63Ter	coding	Pathogenic
8	64624493	C	T	C64624493T	CYP7B1	NM_004820.5(CYP7B1):c.169G>A:p.Gly57Arg	coding	Pathogenic
8	64624611	T	C	T64624611C	CYP7B1	NM_004820.5(CYP7B1):c.123-72A>G	noncoding	Benign
8	64798447	T	A	T64798447A	CYP7B1	NM_004820.5(CYP7B1):c.122+19A>T	noncoding	Benign/Likely_benign
8	64798532	A	G	A64798532G	CYP7B1	NM_004820.5(CYP7B1):c.56T>C:p.Leu19Pro	coding	Benign
8	64798676	G	C	G64798676C	CYP7B1	NM_004820.5(CYP7B1):c.-89C>G	noncoding	Benign
8	66177022	C	T	C66177022T	CRH	NM_000756.4(CRH):c.456G>A:p.Arg152=	coding	Benign/Likely_benign
8	66177190	T	G	T66177190G	CRH	NM_000756.4(CRH):c.288A>C:p.Gly96=	coding	Benign
8	66177427	C	G	C66177427G	CRH	NM_000756.4(CRH):c.51G>C:p.Leu17=	coding	Benign
8	66178643	C	G	C66178643G	CRH	NM_000756.3(CRH):c.-365G>C	noncoding	Pathogenic
8	66178947	G	T	G66178947T	CRH	NM_000756.3(CRH):c.-669C>A	noncoding	Pathogenic
8	66429246	C	T	C66429246T	RRS1	NM_015169.4(RRS1):c.115C>T:p.Leu39=	coding	Benign
8	66429761	C	G	C66429761G	RRS1	NM_015169.4(RRS1):c.630C>G:p.Thr210=	coding	Benign
8	66430017	G	A	G66430017A	RRS1	NM_015169.4(RRS1):c.886G>A:p.Asp296Asn	coding	Benign
8	66592542	T	C	T66592542C	MYBL1	NM_001080416.4(MYBL1):c.765A>G:p.Gln255=	coding	Benign
8	66878928	A	G	A66878928G	MCMDC2	NM_173518.5(MCMDC2):c.709+9A>G	noncoding	Benign
8	66883928	G	A	G66883928A	MCMDC2	NM_173518.5(MCMDC2):c.1007G>A:p.Arg336His	coding	Benign
8	66890892	C	A	C66890892A	MCMDC2	NM_173518.5(MCMDC2):c.1101C>A:p.Val367=	coding	Benign
8	66896903	C	T	C66896903T	MCMDC2	NM_173518.5(MCMDC2):c.1570C>T:p.Pro524Ser	coding	Benign
8	67064428	A	G	A67064428G	CSPP1	NM_024790.6(CSPP1):c.30A>G:p.Val10=	coding	Benign
8	67064515	C	G	C67064515G	CSPP1	NM_024790.6(CSPP1):c.98+19C>G	noncoding	Benign
8	67064774	G	T	G67064774T	CSPP1	NM_024790.6(CSPP1):c.98+278G>T	noncoding	Benign
8	67074271	G	T	G67074271T	CSPP1	NM_001382391.1(CSPP1):c.19G>T:p.Glu7Ter	coding	Pathogenic
8	67074298	T	C	T67074298C	CSPP1	NM_024790.6(CSPP1):c.154T>C:p.Leu52=	coding	Benign/Likely_benign
8	67095206	G	A	G67095206A	CSPP1	NM_024790.6(CSPP1):c.511-87G>A	noncoding	Benign
8	67095434	C	T	C67095434T	CSPP1	NM_024790.6(CSPP1):c.652C>T:p.Gln218Ter	coding	Pathogenic
8	67095440	C	T	C67095440T	CSPP1	NM_024790.6(CSPP1):c.658C>T:p.Arg220Ter	coding	Pathogenic
8	67095733	G	C	G67095733C	CSPP1	NM_024790.6(CSPP1):c.950+1G>C	coding	Pathogenic
8	67095815	A	G	A67095815G	CSPP1	NM_024790.6(CSPP1):c.950+83A>G	noncoding	Benign
8	67103028	G	A	G67103028A	CSPP1	NM_024790.6(CSPP1):c.951-9G>A	noncoding	Benign
8	67103053	C	T	C67103053T	CSPP1	NM_001382391.1(CSPP1):c.940C>T:p.Arg314Ter	coding	Pathogenic
8	67103078	A	G	A67103078G	CSPP1	NM_024790.6(CSPP1):c.992A>G:p.His331Arg	coding	Benign/Likely_benign
8	67111983	C	T	C67111983T	CSPP1	NM_024790.6(CSPP1):c.1132C>T:p.Arg378Ter	coding	Pathogenic/Likely_pathogenic
8	67112031	G	T	G67112031T	CSPP1	NM_024790.6(CSPP1):c.1180G>T:p.Glu394Ter	coding	Pathogenic
8	67112065	G	A	G67112065A	CSPP1	NM_001382391.1(CSPP1):c.1187G>A:p.Arg396Gln	coding	Pathogenic
8	67112339	G	T	G67112339T	CSPP1	NM_024790.6(CSPP1):c.1214+274G>T	noncoding	Benign
8	67114059	A	G	A67114059G	CSPP1	NM_024790.6(CSPP1):c.1272+197A>G	noncoding	Benign
8	67116017	C	G	C67116017G	CSPP1	NM_024790.6(CSPP1):c.1376C>G:p.Ser459Cys	coding	Benign/Likely_benign
8	67118272	C	T	C67118272T	CSPP1	NM_024790.6(CSPP1):c.1506C>T:p.Pro502=	coding	Benign
8	67118300	C	T	C67118300T	CSPP1	NM_024790.6(CSPP1):c.1534C>T:p.Arg512Ter	coding	Pathogenic
8	67118822	G	T	G67118822T	CSPP1	NM_024790.6(CSPP1):c.1682+1G>T	coding	Pathogenic
8	67131886	C	T	C67131886T	CSPP1	NM_024790.6(CSPP1):c.1683-65C>T	noncoding	Benign
8	67132051	C	G	C67132051G	CSPP1	NM_024790.6(CSPP1):c.1783C>G:p.Gln595Glu	coding	Benign/Likely_benign
8	67149781	A	G	A67149781G	CSPP1	NM_024790.6(CSPP1):c.1961-2A>G	noncoding	Pathogenic
8	67149784	T	C	T67149784C	CSPP1	NM_024790.6(CSPP1):c.1962T>C:p.Thr654=	coding	Benign
8	67149911	G	T	G67149911T	CSPP1	NM_024790.6(CSPP1):c.2089G>T:p.Glu697Ter	coding	Pathogenic
8	67149929	A	G	A67149929G	CSPP1	NM_024790.6(CSPP1):c.2107A>G:p.Ser703Gly	coding	Benign
8	67154270	C	T	C67154270T	CSPP1	NM_024790.6(CSPP1):c.2226+134C>T	noncoding	Benign
8	67158480	C	T	C67158480T	CSPP1	NM_024790.6(CSPP1):c.2260C>T:p.Arg754Ter	coding	Pathogenic
8	67158540	C	T	C67158540T	CSPP1	NM_024790.6(CSPP1):c.2320C>T:p.Arg774Ter	coding	Pathogenic
8	67158974	C	T	C67158974T	CSPP1	NM_024790.6(CSPP1):c.2377-17C>T	noncoding	Benign
8	67161902	G	A	G67161902A	CSPP1	NM_024790.6(CSPP1):c.2615G>A:p.Arg872His	coding	Benign
8	67164468	C	T	C67164468T	CSPP1	NM_024790.6(CSPP1):c.2773C>T:p.Arg925Ter	coding	Pathogenic
8	67172417	A	T	A67172417T	CSPP1	NM_024790.6(CSPP1):c.2815A>T:p.Lys939Ter	coding	Pathogenic
8	67172556	G	A	G67172556A	CSPP1	NM_024790.6(CSPP1):c.2953+1G>A	coding	Pathogenic
8	67172556	G	T	G67172556T	CSPP1	NM_024790.6(CSPP1):c.2953+1G>T	coding	Pathogenic
8	67177669	A	G	A67177669G	CSPP1	NM_024790.6(CSPP1):c.3095-11A>G	noncoding	Benign
8	67177708	A	G	A67177708G	CSPP1	NM_024790.6(CSPP1):c.3123A>G:p.Lys1041=	coding	Benign
8	67179871	T	C	T67179871C	CSPP1	NM_024790.6(CSPP1):c.3150T>C:p.Asp1050=	coding	Benign/Likely_benign
8	67179927	G	A	G67179927A	CSPP1	NM_024790.6(CSPP1):c.3205+1G>A	coding	Pathogenic
8	67179939	A	G	A67179939G	CSPP1	NM_024790.6(CSPP1):c.3205+13A>G	noncoding	Benign
8	67190714	C	T	C67190714T	CSPP1	NM_024790.6(CSPP1):c.3270C>T:p.Pro1090=	coding	Benign/Likely_benign
8	67190742	T	C	T67190742C	CSPP1	NM_024790.6(CSPP1):c.3298T>C:p.Trp1100Arg	coding	Benign
8	67195195	C	G	C67195195G	CSPP1	NM_024790.6(CSPP1):c.3455-187C>G	noncoding	Benign
8	67195405	C	T	C67195405T	CSPP1	NM_024790.6(CSPP1):c.3478C>T:p.Pro1160Ser	coding	Benign/Likely_benign
8	67203243	C	T	C67203243T	ARFGEF1	NM_006421.5(ARFGEF1):c.4968G>A:p.Ala1656=	coding	Benign
8	67218112	G	A	G67218112A	ARFGEF1	NM_006421.5(ARFGEF1):c.4365C>T:p.Cys1455=	coding	Benign
8	67224980	C	T	C67224980T	ARFGEF1	NM_006421.5(ARFGEF1):c.4131G>A:p.Val1377=	coding	Benign
8	67251365	G	A	G67251365A	ARFGEF1	NM_006421.5(ARFGEF1):c.2784C>T:p.Ala928=	coding	Benign
8	67271698	G	A	G67271698A	ARFGEF1	NM_006421.5(ARFGEF1):c.1572+4C>T	noncoding	Benign
8	67299338	C	T	C67299338T	ARFGEF1	NM_006421.5(ARFGEF1):c.330G>A:p.Gly110=	coding	Benign
8	67301242	T	G	T67301242G	ARFGEF1	NM_006421.5(ARFGEF1):c.294A>C:p.Thr98=	coding	Benign
8	67301329	T	C	T67301329C	ARFGEF1	NM_006421.5(ARFGEF1):c.207A>G:p.Lys69=	coding	Benign
8	67422581	G	A	G67422581A	CPA6	NM_020361.5(CPA6):c.1237C>T:p.Leu413Phe	coding	Benign/Likely_benign
8	67428096	C	T	C67428096T	CPA6	NM_020361.5(CPA6):c.1077G>A:p.Gln359=	coding	Benign/Likely_benign
8	67434104	T	C	T67434104C	CPA6	NM_020361.5(CPA6):c.975A>G:p.Ala325=	coding	Benign/Likely_benign
8	67483793	A	G	A67483793G	CPA6	NM_020361.5(CPA6):c.813T>C:p.Asn271=	coding	Benign
8	67484680	T	C	T67484680C	CPA6	NM_020361.5(CPA6):c.746A>G:p.Asn249Ser	coding	Benign
8	67484792	A	G	A67484792G	CPA6	NM_020361.5(CPA6):c.637-3T>C	noncoding	Benign
8	67506836	T	C	T67506836C	CPA6	NM_020361.5(CPA6):c.587A>G:p.His196Arg	coding	Pathogenic
8	67509533	G	C	G67509533C	CPA6	NM_020361.5(CPA6):c.518C>G:p.Ser173Cys	coding	Benign
8	67624235	A	G	A67624235G	CPA6	NM_020361.5(CPA6):c.133T>C:p.Phe45Leu	coding	Benign
8	68069124	C	T	C68069124T	PREX2	NM_024870.4(PREX2):c.1431C>T:p.Asp477=	coding	Benign
8	68146301	C	T	C68146301T	PREX2	NM_024870.4(PREX2):c.4180C>T:p.Arg1394Trp	coding	Benign
8	68192466	G	A	G68192466A	PREX2	NM_024870.4(PREX2):c.4545G>A:p.Ser1515=	coding	Benign
8	69576064	G	A	G69576064A	SULF1	NM_001128205.2(SULF1):c.267G>A:p.Pro89=	coding	Benign
8	69589076	G	T	G69589076T	SULF1	NM_001128205.2(SULF1):c.669G>T:p.Ala223=	coding	Benign/Likely_benign
8	69589082	C	T	C69589082T	SULF1	NM_001128205.2(SULF1):c.675C>T:p.His225=	coding	Benign
8	69601656	G	A	G69601656A	SULF1	NM_001128205.2(SULF1):c.888G>A:p.Leu296=	coding	Benign
8	69603241	A	G	A69603241G	SULF1	NM_001128205.2(SULF1):c.1111A>G:p.Ile371Val	coding	Benign/Likely_benign
8	69604926	G	A	G69604926A	SULF1	NM_001128205.2(SULF1):c.1371G>A:p.Pro457=	coding	Benign
8	69621049	T	G	T69621049G	SULF1	NM_001128205.2(SULF1):c.1392T>G:p.Ile464Met	coding	Benign
8	69621140	C	G	C69621140G	SULF1	NM_001128205.2(SULF1):c.1483C>G:p.Arg495Gly	coding	Benign
8	69624136	A	G	A69624136G	SULF1	NM_001128205.2(SULF1):c.1789A>G:p.Arg597Gly	coding	Benign
8	69629564	G	A	G69629564A	SULF1	NM_001128205.2(SULF1):c.2169G>A:p.Arg723=	coding	Benign
8	69638747	G	A	G69638747A	SULF1	NM_001128205.2(SULF1):c.2440G>A:p.Val814Met	coding	Benign
8	69672988	G	A	G69672988A	SLCO5A1	NM_030958.3(SLCO5A1):c.2428C>T:p.Leu810=	coding	Benign
8	69673088	G	C	G69673088C	SLCO5A1	NM_030958.3(SLCO5A1):c.2328C>G:p.Pro776=	coding	Benign
8	69755467	C	T	C69755467T	SLCO5A1	NM_030958.3(SLCO5A1):c.1215G>A:p.Ala405=	coding	Benign
8	69761829	T	C	T69761829C	SLCO5A1	NM_030958.3(SLCO5A1):c.954A>G:p.Leu318=	coding	Benign
8	69831912	G	A	G69831912A	SLCO5A1	NM_030958.3(SLCO5A1):c.762C>T:p.Asp254=	coding	Benign
8	69832363	G	C	G69832363C	SLCO5A1	NM_030958.3(SLCO5A1):c.311C>G:p.Thr104Ser	coding	Benign
8	70128448	A	G	A70128448G	NCOA2	NM_006540.4(NCOA2):c.3666T>C:p.Pro1222=	coding	Benign
8	70156712	C	T	C70156712T	NCOA2	NM_006540.4(NCOA2):c.1653G>A:p.Ser551=	coding	Benign
8	70216728	T	C	T70216728C	NCOA2	NM_006540.4(NCOA2):c.18A>G:p.Glu6=	coding	Benign
8	70596318	T	C	T70596318C	TRAM1	NM_014294.6(TRAM1):c.430A>G:p.Asn144Asp	coding	Benign
8	70733849	C	T	C70733849T	XKR9	NM_001011720.2(XKR9):c.547C>T:p.Gln183Ter	coding	Benign
8	71197450	T	C	T71197450C	EYA1	NM_000503.6(EYA1):c.*1890A>G	noncoding	Benign
8	71197759	C	T	C71197759T	EYA1	NM_000503.6(EYA1):c.*1581G>A	noncoding	Benign
8	71198016	A	G	A71198016G	EYA1	NM_000503.6(EYA1):c.*1324T>C	noncoding	Benign
8	71198030	C	T	C71198030T	EYA1	NM_000503.6(EYA1):c.*1310G>A	noncoding	Benign
8	71198077	G	A	G71198077A	EYA1	NM_000503.6(EYA1):c.*1263C>T	noncoding	Benign
8	71198118	T	G	T71198118G	EYA1	NM_000503.6(EYA1):c.*1222A>C	noncoding	Benign
8	71198540	A	G	A71198540G	EYA1	NM_000503.6(EYA1):c.*800T>C	noncoding	Benign
8	71198556	A	G	A71198556G	EYA1	NM_000503.6(EYA1):c.*784T>C	noncoding	Benign
8	71198635	C	A	C71198635A	EYA1	NM_000503.6(EYA1):c.*705G>T	noncoding	Benign
8	71198784	T	C	T71198784C	EYA1	NM_000503.6(EYA1):c.*556A>G	noncoding	Benign
8	71198987	G	A	G71198987A	EYA1	NM_000503.6(EYA1):c.*353C>T	noncoding	Benign
8	71199236	G	A	G71199236A	EYA1	NM_000503.6(EYA1):c.*104C>T	noncoding	Benign
8	71199238	A	C	A71199238C	EYA1	NM_000503.6(EYA1):c.*102T>G	noncoding	Benign
8	71199317	C	T	C71199317T	EYA1	NM_000503.6(EYA1):c.*23G>A	noncoding	Benign
8	71199364	A	G	A71199364G	EYA1	NM_000503.6(EYA1):c.1755T>C:p.His585=	coding	Benign
8	71199385	C	T	C71199385T	EYA1	NM_000503.6(EYA1):c.1734G>A:p.Ser578=	coding	Benign/Likely_benign
8	71199418	G	A	G71199418A	EYA1	NM_000503.6(EYA1):c.1701C>T:p.His567=	coding	Benign
8	71199423	G	A	G71199423A	EYA1	NM_000503.6(EYA1):c.1699-3C>T	noncoding	Benign
8	71211170	G	A	G71211170A	EYA1	NM_000503.6(EYA1):c.1684C>T:p.Gln562Ter	coding	Pathogenic
8	71211215	T	C	T71211215C	EYA1	NM_000503.6(EYA1):c.1639A>G:p.Arg547Gly	coding	Pathogenic
8	71211258	T	C	T71211258C	EYA1	NM_000503.6(EYA1):c.1598-2A>G	noncoding	Pathogenic
8	71211271	T	C	T71211271C	EYA1	NM_000503.6(EYA1):c.1598-15A>G	noncoding	Benign
8	71215386	C	T	C71215386T	EYA1	NM_000503.6(EYA1):c.1597+1G>A	noncoding	Pathogenic
8	71215387	C	G	C71215387G	EYA1	NM_000503.6(EYA1):c.1597G>C:p.Gly533Arg	coding	Pathogenic
8	71215453	T	A	T71215453A	EYA1	NM_000503.6(EYA1):c.1531A>T:p.Lys511Ter	coding	Pathogenic
8	71215470	A	C	A71215470C	EYA1	NM_000503.6(EYA1):c.1514T>G:p.Leu505Arg	coding	Pathogenic
8	71215599	C	T	C71215599T	EYA1	NM_000503.6(EYA1):c.1475+15G>A	noncoding	Benign
8	71215613	C	G	C71215613G	EYA1	NM_000503.6(EYA1):c.1475+1G>C	noncoding	Pathogenic
8	71215630	A	G	A71215630G	EYA1	NM_000503.6(EYA1):c.1459T>C:p.Ser487Pro	coding	Pathogenic
8	71215656	C	T	C71215656T	EYA1	NM_000503.6(EYA1):c.1433G>A:p.Trp478Ter	coding	Pathogenic
8	71215729	C	A	C71215729A	EYA1	NM_000503.6(EYA1):c.1361-1G>T	coding	Pathogenic
8	71215729	C	T	C71215729T	EYA1	NM_000503.6(EYA1):c.1361-1G>A	coding	Pathogenic
8	71216733	C	T	C71216733T	EYA1	NM_000503.6(EYA1):c.1319G>A:p.Arg440Gln	coding	Pathogenic
8	71216774	G	A	G71216774A	EYA1	NM_000503.6(EYA1):c.1278C>T:p.Gly426=	coding	Benign
8	71216853	C	T	C71216853T	EYA1	NM_000503.6(EYA1):c.1200-1G>A	coding	Pathogenic
8	71216863	G	T	G71216863T	EYA1	NM_000503.6(EYA1):c.1200-11C>A	noncoding	Benign
8	71216952	C	A	C71216952A	EYA1	NM_000503.6(EYA1):c.1199+13G>T	noncoding	Benign/Likely_benign
8	71216978	C	A	C71216978A	EYA1	NM_000503.6(EYA1):c.1186G>T:p.Gly396Ter	coding	Pathogenic
8	71216979	G	A	G71216979A	EYA1	NM_000503.6(EYA1):c.1185C>T:p.Asn395=	coding	Benign/Likely_benign
8	71217038	A	C	A71217038C	EYA1	NM_000503.6(EYA1):c.1141-15T>G	noncoding	Benign
8	71244602	C	A	C71244602A	EYA1	NM_000503.6(EYA1):c.1140+1G>T	noncoding	Pathogenic
8	71244653	C	A	C71244653A	EYA1	NM_000503.6(EYA1):c.1090G>T:p.Glu364Ter	coding	Pathogenic
8	71244656	C	T	C71244656T	EYA1	NM_000503.6(EYA1):c.1087G>A:p.Glu363Lys	coding	Pathogenic
8	71244662	G	A	G71244662A	EYA1	NM_000503.6(EYA1):c.1081C>T:p.Arg361Ter	coding	Pathogenic
8	71269739	C	A	C71269739A	EYA1	NM_000503.6(EYA1):c.1050+1G>T	noncoding	Pathogenic
8	71269746	A	C	A71269746C	EYA1	NM_000503.6(EYA1):c.1044T>G:p.Tyr348Ter	coding	Pathogenic
8	71271753	C	T	C71271753T	EYA1	NM_000503.6(EYA1):c.966+5G>A	noncoding	Pathogenic
8	71271754	G	A	G71271754A	EYA1	NM_000503.6(EYA1):c.966+4C>T	noncoding	Benign
8	71271801	C	T	C71271801T	EYA1	NM_000503.6(EYA1):c.923G>A:p.Arg308Gln	coding	Benign
8	71271802	G	A	G71271802A	EYA1	NM_000503.6(EYA1):c.922C>T:p.Arg308Ter	coding	Pathogenic
8	71271828	G	T	G71271828T	EYA1	NM_000503.6(EYA1):c.896C>A:p.Ser299Ter	coding	Pathogenic
8	71271835	G	A	G71271835A	EYA1	NM_000503.6(EYA1):c.889C>T:p.Arg297Ter	coding	Pathogenic
8	71271837	C	T	C71271837T	EYA1	NM_000503.6(EYA1):c.887G>A:p.Arg296His	coding	Benign
8	71271844	G	A	G71271844A	EYA1	NM_000503.6(EYA1):c.880C>T:p.Arg294Ter	coding	Pathogenic
8	71271884	G	T	G71271884T	EYA1	NM_000503.6(EYA1):c.840C>A:p.Ile280=	coding	Benign/Likely_benign
8	71299060	T	C	T71299060C	EYA1	NM_000503.6(EYA1):c.813A>G:p.Thr271=	coding	Benign
8	71299090	C	T	C71299090T	EYA1	NM_000503.6(EYA1):c.783G>A:p.Pro261=	coding	Benign/Likely_benign
8	71299091	G	A	G71299091A	EYA1	NM_000503.6(EYA1):c.782C>T:p.Pro261Leu	coding	Benign
8	71299129	C	T	C71299129T	EYA1	NM_000503.6(EYA1):c.744G>A:p.Thr248=	coding	Benign
8	71299149	T	C	T71299149C	EYA1	NM_000503.6(EYA1):c.724A>G:p.Ser242Gly	coding	Benign
8	71299191	G	A	G71299191A	EYA1	NM_000503.6(EYA1):c.682C>T:p.Gln228Ter	coding	Pathogenic
8	71299195	G	T	G71299195T	EYA1	NM_000503.6(EYA1):c.678C>A:p.Tyr226Ter	coding	Pathogenic
8	71299225	C	T	C71299225T	EYA1	NM_000503.6(EYA1):c.648G>A:p.Pro216=	coding	Benign
8	71299637	C	T	C71299637T	EYA1	NM_000503.6(EYA1):c.639+1G>A	noncoding	Pathogenic
8	71299675	G	C	G71299675C	EYA1	NM_000503.6(EYA1):c.602C>G:p.Ser201Ter	coding	Pathogenic
8	71317534	C	A	C71317534A	EYA1	NM_000503.6(EYA1):c.556+18G>T	noncoding	Benign
8	71317638	G	T	G71317638T	EYA1	NM_000503.6(EYA1):c.470C>A:p.Ser157Ter	coding	Pathogenic
8	71317642	G	A	G71317642A	EYA1	NM_000503.6(EYA1):c.466C>T:p.Gln156Ter	coding	Pathogenic
8	71317680	C	T	C71317680T	EYA1	NM_000503.6(EYA1):c.428G>A:p.Trp143Ter	coding	Pathogenic
8	71321733	C	T	C71321733T	EYA1	NM_000503.6(EYA1):c.418+1G>A	noncoding	Pathogenic
8	71321831	A	G	A71321831G	EYA1	NM_000503.6(EYA1):c.321T>C:p.Ala107=	coding	Benign
8	71322230	G	A	G71322230A	EYA1	NM_000503.6(EYA1):c.241C>T:p.Gln81Ter	coding	Pathogenic
8	71322242	G	A	G71322242A	EYA1	NM_000503.6(EYA1):c.229C>T:p.Arg77Ter	coding	Pathogenic
8	71334140	A	G	A71334140G	EYA1	NM_000503.6(EYA1):c.159T>C:p.Ala53=	coding	Benign/Likely_benign
8	71334205	G	A	G71334205A	EYA1	NM_000503.6(EYA1):c.125-31C>T	noncoding	Benign
8	71354848	G	C	G71354848C	EYA1	NM_000503.6(EYA1):c.58C>G:p.Pro20Ala	coding	Benign
8	71356504	G	T	G71356504T	EYA1	NM_000503.6(EYA1):c.-47C>A	noncoding	Benign/Likely_benign
8	71361783	G	C	G71361783C	EYA1	NM_000503.6(EYA1):c.-191C>G	noncoding	Benign
8	71361863	C	T	C71361863T	EYA1	NM_000503.6(EYA1):c.-271G>A	noncoding	Benign
8	71361932	C	A	C71361932A	EYA1	NM_000503.6(EYA1):c.-340G>T	noncoding	Benign
8	72029895	A	G	A72029895G	TRPA1	NM_007332.3(TRPA1):c.2937+6T>C	noncoding	Benign
8	72034369	T	C	T72034369C	TRPA1	NM_007332.3(TRPA1):c.2564A>G:p.Asn855Ser	coding	Pathogenic
8	72038883	T	C	T72038883C	TRPA1	NM_007332.3(TRPA1):c.2277A>G:p.Ser759=	coding	Benign
8	72061674	C	T	C72061674T	TRPA1	NM_007332.3(TRPA1):c.895G>A:p.Val299Met	coding	Benign
8	72567890	G	T	G72567890T	KCNB2	NM_004770.3(KCNB2):c.156G>T:p.Thr52=	coding	Benign
8	72937230	C	T	C72937230T	KCNB2	NM_004770.3(KCNB2):c.1875C>T:p.Ser625=	coding	Benign
8	72937325	A	G	A72937325G	KCNB2	NM_004770.3(KCNB2):c.1970A>G:p.Glu657Gly	coding	Benign
8	73046005	G	A	G73046005A	TERF1	NM_017489.3(TERF1):c.1188G>A:p.Arg396=	coding	Benign
8	73046075	T	C	T73046075C	TERF1	NM_017489.3(TERF1):c.1258T>C:p.Leu420=	coding	Benign
8	73595287	C	A	C73595287A	STAU2	NM_001164380.2(STAU2):c.1040G>T:p.Gly347Val	coding	Benign
8	73613846	G	A	G73613846A	STAU2	NM_001164380.2(STAU2):c.789C>T:p.Arg263=	coding	Benign
8	73976229	G	A	G73976229A	TMEM70	NM_017866.6(TMEM70):c.-53G>A	noncoding	Benign
8	73976259	C	T	C73976259T	TMEM70	NM_017866.6(TMEM70):c.-23C>T	noncoding	Benign
8	73976381	G	C	G73976381C	TMEM70	NM_017866.6(TMEM70):c.100G>C:p.Ala34Pro	coding	Benign
8	73976658	G	C	G73976658C	TMEM70	NM_017866.6(TMEM70):c.210+167G>C	noncoding	Benign
8	73978783	C	T	C73978783T	TMEM70	NM_017866.6(TMEM70):c.238C>T:p.Arg80Ter	coding	Pathogenic
8	73981153	A	G	A73981153G	TMEM70	NM_017866.6(TMEM70):c.317-2A>G	noncoding	Pathogenic
8	73981174	T	A	T73981174A	TMEM70	NM_017866.6(TMEM70):c.336T>A:p.Tyr112Ter	coding	Pathogenic
8	73981184	C	G	C73981184G	TMEM70	NM_017866.6(TMEM70):c.346C>G:p.Leu116Val	coding	Benign
8	73981217	A	G	A73981217G	TMEM70	NM_017866.6(TMEM70):c.379A>G:p.Thr127Ala	coding	Benign
8	73981418	G	A	G73981418A	TMEM70	NM_017866.6(TMEM70):c.580G>A:p.Val194Met	coding	Benign
8	73981522	C	G	C73981522G	TMEM70	NM_017866.6(TMEM70):c.684C>G:p.Asn228Lys	coding	Benign/Likely_benign
8	73981586	A	G	A73981586G	TMEM70	NM_017866.6(TMEM70):c.748A>G:p.Thr250Ala	coding	Benign
8	73981615	C	G	C73981615G	TMEM70	NM_017866.6(TMEM70):c.777C>G:p.Asp259Glu	coding	Benign
8	73981645	C	T	C73981645T	TMEM70	NM_017866.6(TMEM70):c.*24C>T	noncoding	Benign
8	73981790	A	G	A73981790G	TMEM70	NM_017866.6(TMEM70):c.*169A>G	noncoding	Benign
8	73982673	G	C	G73982673C	TMEM70	NM_017866.6(TMEM70):c.*1052G>C	noncoding	Benign
8	74244604	C	T	C74244604T	JPH1	NM_020647.4(JPH1):c.1830G>A:p.Lys610=	coding	Benign
8	74244858	C	T	C74244858T	JPH1	NM_020647.4(JPH1):c.1576G>A:p.Val526Ile	coding	Benign
8	74244859	C	T	C74244859T	JPH1	NM_020647.4(JPH1):c.1575G>A:p.Ala525=	coding	Benign
8	74245112	T	C	T74245112C	JPH1	NM_020647.4(JPH1):c.1322A>G:p.Lys441Arg	coding	Benign
8	74315362	C	G	C74315362G	JPH1	NM_020647.4(JPH1):c.638G>C:p.Arg213Pro	coding	Benign
8	74320979	G	A	G74320979A	JPH1	NM_020647.4(JPH1):c.309C>T:p.Pro103=	coding	Benign
8	74350301	G	T	G74350301T	GDAP1	NC_000008.11:g.74350301G>T	noncoding	Benign
8	74350462	A	T	A74350462T	GDAP1	NM_018972.4(GDAP1):c.1A>T:p.Met1Leu	coding	Pathogenic
8	74350551	T	C	T74350551C	GDAP1	NM_018972.4(GDAP1):c.90T>C:p.His30=	coding	Benign/Likely_benign
8	74350553	G	A	G74350553A	GDAP1	NM_018972.4(GDAP1):c.92G>A:p.Trp31Ter	coding	Pathogenic
8	74350563	C	G	C74350563G	GDAP1	NM_018972.4(GDAP1):c.102C>G:p.Ser34=	coding	Benign
8	74350573	C	T	C74350573T	GDAP1	NM_018972.4(GDAP1):c.112C>T:p.Gln38Ter	coding	Pathogenic/Likely_pathogenic
8	74350606	G	A	G74350606A	GDAP1	NM_018972.4(GDAP1):c.117+28G>A	noncoding	Benign
8	74351187	G	A	G74351187A	GDAP1	NM_018972.4(GDAP1):c.118-87G>A	noncoding	Benign
8	74351406	G	T	G74351406T	GDAP1	NM_018972.4(GDAP1):c.250G>T:p.Glu84Ter	coding	Pathogenic
8	74351467	G	A	G74351467A	GDAP1	NM_018972.4(GDAP1):c.310+1G>A	coding	Pathogenic
8	74360052	T	C	T74360052C	GDAP1	NM_018972.4(GDAP1):c.311-85T>C	noncoding	Benign
8	74360173	T	G	T74360173G	GDAP1	NM_018972.4(GDAP1):c.347T>G:p.Met116Arg	coding	Pathogenic
8	74360184	C	T	C74360184T	GDAP1	NM_018972.4(GDAP1):c.358C>T:p.Arg120Trp	coding	Pathogenic/Likely_pathogenic
8	74360194	A	G	A74360194G	GDAP1	NM_018972.4(GDAP1):c.368A>G:p.His123Arg	coding	Pathogenic
8	74360199	C	T	C74360199T	GDAP1	NM_018972.4(GDAP1):c.373C>T:p.Arg125Ter	coding	Pathogenic
8	74360284	C	T	C74360284T	GDAP1	NM_018972.4(GDAP1):c.458C>T:p.Pro153Leu	coding	Pathogenic/Likely_pathogenic
8	74360293	C	G	C74360293G	GDAP1	NM_018972.4(GDAP1):c.467C>G:p.Ala156Gly	coding	Pathogenic
8	74360295	A	C	A74360295C	GDAP1	NM_018972.4(GDAP1):c.469A>C:p.Thr157Pro	coding	Pathogenic
8	74360308	G	A	G74360308A	GDAP1	NM_018972.4(GDAP1):c.482G>A:p.Arg161His	coding	Pathogenic
8	74360492	C	A	C74360492A	GDAP1	NM_018972.4(GDAP1):c.484+182C>A	noncoding	Benign
8	74361646	C	A	C74361646A	GDAP1	NM_018972.4(GDAP1):c.485-238C>A	noncoding	Benign
8	74361698	A	G	A74361698G	GDAP1	NM_018972.4(GDAP1):c.485-186A>G	noncoding	Benign
8	74361864	C	G	C74361864G	GDAP1	NM_018972.4(GDAP1):c.485-20C>G	noncoding	Benign
8	74361886	C	T	C74361886T	GDAP1	NM_018972.4(GDAP1):c.487C>T:p.Gln163Ter	coding	Pathogenic
8	74361906	T	G	T74361906G	GDAP1	NM_018972.4(GDAP1):c.507T>G:p.Ser169=	coding	Benign
8	74361970	C	T	C74361970T	GDAP1	NM_018972.4(GDAP1):c.571C>T:p.Arg191Ter	coding	Pathogenic
8	74361979	G	A	G74361979A	GDAP1	NM_018972.4(GDAP1):c.579+1G>A	coding	Pathogenic
8	74362395	A	G	A74362395G	GDAP1	NM_018972.4(GDAP1):c.579+417A>G	noncoding	Benign
8	74362940	C	G	C74362940G	GDAP1	NM_018972.4(GDAP1):c.581C>G:p.Ser194Ter	coding	Pathogenic
8	74363011	C	G	C74363011G	GDAP1	NM_018972.4(GDAP1):c.652C>G:p.Gln218Glu	coding	Pathogenic
8	74363037	A	T	A74363037T	GDAP1	NM_018972.4(GDAP1):c.678A>T:p.Arg226Ser	coding	Pathogenic
8	74363051	C	T	C74363051T	GDAP1	NM_018972.4(GDAP1):c.692C>T:p.Pro231Leu	coding	Pathogenic/Likely_pathogenic
8	74363077	C	T	C74363077T	GDAP1	NM_018972.4(GDAP1):c.694+24C>T	noncoding	Benign
8	74363676	C	T	C74363676T	GDAP1	NM_018972.4(GDAP1):c.695-309C>T	noncoding	Benign
8	74363993	C	T	C74363993T	GDAP1	NM_018972.4(GDAP1):c.703C>T:p.Gln235Ter	coding	Pathogenic
8	74364005	C	T	C74364005T	GDAP1	NM_018972.4(GDAP1):c.715C>T:p.Leu239Phe	coding	Pathogenic/Likely_pathogenic
8	74364009	G	A	G74364009A	GDAP1	NM_018972.4(GDAP1):c.719G>A:p.Cys240Tyr	coding	Pathogenic
8	74364057	A	G	A74364057G	GDAP1	NM_018972.4(GDAP1):c.767A>G:p.His256Arg	coding	Pathogenic
8	74364059	C	T	C74364059T	GDAP1	NM_018972.4(GDAP1):c.769C>T:p.Arg257Ter	coding	Pathogenic
8	74364107	C	T	C74364107T	GDAP1	NM_018972.4(GDAP1):c.817C>T:p.Arg273Ter	coding	Pathogenic
8	74364111	C	T	C74364111T	GDAP1	NM_018972.4(GDAP1):c.821C>T:p.Pro274Leu	coding	Pathogenic
8	74364134	C	T	C74364134T	GDAP1	NM_018972.4(GDAP1):c.844C>T:p.Arg282Cys	coding	Pathogenic
8	74364219	G	A	G74364219A	GDAP1	NM_018972.4(GDAP1):c.929G>A:p.Arg310Gln	coding	Pathogenic
8	74364428	C	T	C74364428T	GDAP1	NM_018972.4(GDAP1):c.*61C>T	noncoding	Benign
8	74364724	A	G	A74364724G	GDAP1	NM_018972.4(GDAP1):c.*357A>G	noncoding	Benign
8	74364928	C	G	C74364928G	GDAP1	NM_018972.4(GDAP1):c.*561C>G	noncoding	Benign
8	74365164	A	G	A74365164G	GDAP1	NM_018972.4(GDAP1):c.*797A>G	noncoding	Benign
8	74365197	C	G	C74365197G	GDAP1	NM_018972.4(GDAP1):c.*830C>G	noncoding	Benign
8	74365287	C	G	C74365287G	GDAP1	NM_018972.4(GDAP1):c.*920C>G	noncoding	Benign
8	74365540	G	T	G74365540T	GDAP1	NM_018972.4(GDAP1):c.*1173G>T	noncoding	Benign
8	74365796	A	G	A74365796G	GDAP1	NM_018972.4(GDAP1):c.*1429A>G	noncoding	Benign
8	74366014	C	T	C74366014T	GDAP1	NM_018972.4(GDAP1):c.*1647C>T	noncoding	Benign
8	74366222	A	G	A74366222G	GDAP1	NM_018972.4(GDAP1):c.*1855A>G	noncoding	Benign
8	74366245	G	T	G74366245T	GDAP1	NM_018972.4(GDAP1):c.*1878G>T	noncoding	Benign
8	74366581	A	G	A74366581G	GDAP1	NM_018972.4(GDAP1):c.*2214A>G	noncoding	Benign
8	74366611	T	C	T74366611C	GDAP1	NM_018972.4(GDAP1):c.*2244T>C	noncoding	Benign
8	74366830	A	G	A74366830G	GDAP1	NM_018972.4(GDAP1):c.*2463A>G	noncoding	Benign
8	74825498	A	G	A74825498G	PI15	NM_015886.5(PI15):c.249A>G:p.Pro83=	coding	Benign
8	74845411	A	G	A74845411G	PI15	NM_015886.5(PI15):c.555A>G:p.Gly185=	coding	Benign
8	75016712	C	A	C75016712A	CRISPLD1	NM_031461.6(CRISPLD1):c.868+7C>A	noncoding	Benign
8	76704280	C	T	C76704280T	ZFHX4	NM_024721.5(ZFHX4):c.192C>T:p.Phe64=	coding	Benign
8	76704685	A	T	A76704685T	ZFHX4	NM_024721.5(ZFHX4):c.597A>T:p.Ser199=	coding	Benign
8	76705825	G	C	G76705825C	ZFHX4	NM_024721.5(ZFHX4):c.1737G>C:p.Arg579=	coding	Benign
8	76778264	C	T	C76778264T	ZFHX4	NM_024721.5(ZFHX4):c.3150C>T:p.Ala1050=	coding	Benign
8	76842704	C	T	C76842704T	ZFHX4	NM_024721.5(ZFHX4):c.3444C>T:p.Ala1148=	coding	Benign
8	76849598	G	A	G76849598A	ZFHX4	NM_024721.5(ZFHX4):c.3732G>A:p.Pro1244=	coding	Benign
8	76849604	C	T	C76849604T	ZFHX4	NM_024721.5(ZFHX4):c.3738C>T:p.Ile1246=	coding	Benign
8	76850948	G	A	G76850948A	ZFHX4	NM_024721.5(ZFHX4):c.4027G>A:p.Val1343Ile	coding	Benign
8	76851837	C	T	C76851837T	ZFHX4	NM_024721.5(ZFHX4):c.4916C>T:p.Ala1639Val	coding	Benign
8	76851884	T	G	T76851884G	ZFHX4	NM_024721.5(ZFHX4):c.4963T>G:p.Leu1655Val	coding	Benign
8	76852237	C	G	C76852237G	ZFHX4	NM_024721.5(ZFHX4):c.5316C>G:p.Gly1772=	coding	Benign
8	76852248	A	G	A76852248G	ZFHX4	NM_024721.5(ZFHX4):c.5327A>G:p.Glu1776Gly	coding	Benign
8	76852850	G	T	G76852850T	ZFHX4	NM_024721.5(ZFHX4):c.5929G>T:p.Ala1977Ser	coding	Benign
8	76854066	G	A	G76854066A	ZFHX4	NM_024721.5(ZFHX4):c.7145G>A:p.Ser2382Asn	coding	Benign
8	76854327	C	T	C76854327T	ZFHX4	NM_024721.5(ZFHX4):c.7406C>T:p.Pro2469Leu	coding	Benign
8	76854358	G	A	G76854358A	ZFHX4	NM_024721.5(ZFHX4):c.7437G>A:p.Met2479Ile	coding	Benign
8	76854568	A	G	A76854568G	ZFHX4	NM_024721.5(ZFHX4):c.7647A>G:p.Gly2549=	coding	Benign
8	76863470	T	C	T76863470C	ZFHX4	NM_024721.5(ZFHX4):c.9756T>C:p.Gly3252=	coding	Benign
8	76863506	A	G	A76863506G	ZFHX4	NM_024721.5(ZFHX4):c.9792A>G:p.Pro3264=	coding	Benign
8	76863563	G	A	G76863563A	ZFHX4	NM_024721.5(ZFHX4):c.9849G>A:p.Gln3283=	coding	Benign
8	76980598	A	T	A76980598T	PEX2	NM_000318.3(PEX2):c.*2663T>A	noncoding	Benign
8	76980707	C	T	C76980707T	PEX2	NM_000318.3(PEX2):c.*2554G>A	noncoding	Benign
8	76980815	G	A	G76980815A	PEX2	NM_000318.3(PEX2):c.*2446C>T	noncoding	Benign
8	76980884	T	C	T76980884C	PEX2	NM_000318.3(PEX2):c.*2377A>G	noncoding	Benign
8	76980923	G	A	G76980923A	PEX2	NM_000318.3(PEX2):c.*2338C>T	noncoding	Benign
8	76980955	T	C	T76980955C	PEX2	NM_000318.3(PEX2):c.*2306A>G	noncoding	Benign
8	76981119	T	C	T76981119C	PEX2	NM_000318.3(PEX2):c.*2142A>G	noncoding	Benign
8	76981660	A	T	A76981660T	PEX2	NM_000318.3(PEX2):c.*1601T>A	noncoding	Benign
8	76982019	T	C	T76982019C	PEX2	NM_000318.3(PEX2):c.*1242A>G	noncoding	Benign
8	76982067	T	C	T76982067C	PEX2	NM_000318.3(PEX2):c.*1194A>G	noncoding	Benign
8	76982120	C	T	C76982120T	PEX2	NM_000318.3(PEX2):c.*1141G>A	noncoding	Benign
8	76982534	A	G	A76982534G	PEX2	NM_000318.3(PEX2):c.*727T>C	noncoding	Benign
8	76982803	C	T	C76982803T	PEX2	NM_000318.3(PEX2):c.*458G>A	noncoding	Benign
8	76983439	C	T	C76983439T	PEX2	NM_000318.3(PEX2):c.740G>A:p.Cys247Tyr	coding	Pathogenic
8	76983440	A	G	A76983440G	PEX2	NM_000318.3(PEX2):c.739T>C:p.Cys247Arg	coding	Pathogenic
8	76983446	C	T	C76983446T	PEX2	NM_000318.3(PEX2):c.733G>A:p.Ala245Thr	coding	Benign
8	76983510	C	T	C76983510T	PEX2	NM_000318.3(PEX2):c.669G>A:p.Trp223Ter	coding	Pathogenic
8	76983629	A	G	A76983629G	PEX2	NM_000318.3(PEX2):c.550T>C:p.Cys184Arg	coding	Benign
8	76983682	A	T	A76983682T	PEX2	NM_000318.3(PEX2):c.497T>A:p.Leu166Ter	coding	Pathogenic
8	76983702	C	T	C76983702T	PEX2	NM_000318.3(PEX2):c.477G>A:p.Gln159=	coding	Benign/Likely_benign
8	76983806	G	A	G76983806A	PEX2	NM_000318.3(PEX2):c.373C>T:p.Arg125Ter	coding	Pathogenic/Likely_pathogenic
8	76983824	G	A	G76983824A	PEX2	NM_000318.3(PEX2):c.355C>T:p.Arg119Ter	coding	Pathogenic
8	76983947	G	A	G76983947A	PEX2	NM_000318.3(PEX2):c.232C>T:p.Gln78Ter	coding	Pathogenic
8	76984016	C	T	C76984016T	PEX2	NM_000318.3(PEX2):c.163G>A:p.Glu55Lys	coding	Pathogenic
8	76984155	C	T	C76984155T	PEX2	NM_000318.3(PEX2):c.24G>A:p.Ala8=	coding	Benign
8	76999994	G	T	G76999994T	PEX2	NM_000318.3(PEX2):c.-164C>A	noncoding	Benign
8	78798108	A	G	A78798108G	IL7	NM_000880.4(IL7):c.111T>C:p.Tyr37=	coding	Benign
8	78804906	C	T	C78804906T	IL7	NM_000880.4(IL7):c.10+7G>A	noncoding	Benign
8	80003038	T	C	T80003038C	MRPS28	NM_014018.3(MRPS28):c.356A>G:p.Lys119Arg	coding	Pathogenic
8	80038243	A	G	A80038243G	TPD52	NM_001287140.2(TPD52):c.625-8T>C	noncoding	Benign
8	80985200	A	G	A80985200G	PAG1	NM_018440.4(PAG1):c.452T>C:p.Val151Ala	coding	Benign
8	81283909	C	T	C81283909T	FABP5	NM_001444.3(FABP5):c.289C>T:p.His97Tyr	coding	Benign
8	81443432	C	T	C81443432T	PMP2	NM_002677.5(PMP2):c.365G>A:p.Gly122Asp	coding	Benign
8	81444492	A	G	A81444492G	PMP2	NM_002677.5(PMP2):c.348+8T>C	noncoding	Benign
8	81444884	T	A	T81444884A	PMP2	NM_002677.5(PMP2):c.179A>T:p.Asn60Ile	coding	Benign
8	81444912	T	G	T81444912G	PMP2	NM_002677.5(PMP2):c.151A>C:p.Thr51Pro	coding	Pathogenic
8	81444914	A	G	A81444914G	PMP2	NM_002677.5(PMP2):c.149T>C:p.Ile50Thr	coding	Benign
8	81459295	G	A	G81459295A	FABP9	NM_001080526.2(FABP9):c.116C>T:p.Pro39Leu	coding	Benign
8	81461519	A	G	A81461519G	FABP9	NM_001080526.2(FABP9):c.5T>C:p.Val2Ala	coding	Benign
8	81478898	G	A	G81478898A	FABP4	NM_001442.3(FABP4):c.366C>T:p.Gly122=	coding	Benign
8	81480601	A	G	A81480601G	FABP4	NM_001442.3(FABP4):c.74-3T>C	noncoding	Benign
8	81531265	G	A	G81531265A	FABP12	NM_001105281.2(FABP12):c.51C>T:p.Ser17=	coding	Benign
8	81676288	A	T	A81676288T	IMPA1	NM_005536.4(IMPA1):c.303-9T>A	noncoding	Benign
8	81685828	T	C	T81685828C	IMPA1	NM_005536.4(IMPA1):c.-25+424A>G	coding	Benign
8	85126717	G	A	G85126717A	LRRCC1	NM_033402.5(LRRCC1):c.1301G>A:p.Arg434Lys	coding	Benign
8	85129344	A	G	A85129344G	LRRCC1	NM_033402.5(LRRCC1):c.1591A>G:p.Met531Val	coding	Benign
8	85137460	T	G	T85137460G	LRRCC1	NM_033402.5(LRRCC1):c.2330-4T>G	noncoding	Benign
8	85138453	G	A	G85138453A	LRRCC1	NM_033402.5(LRRCC1):c.2818G>A:p.Asp940Asn	coding	Benign
8	85267907	T	C	T85267907C	CA13	NM_198584.3(CA13):c.456T>C:p.Gly152=	coding	Benign
8	85328586	C	G	C85328586G	CA1	NM_001738.5(CA1):c.760G>C:p.Gly254Arg	coding	Pathogenic
8	85328606	C	T	C85328606T	CA1	NM_001738.5(CA1):c.740G>A:p.Arg247His	coding	Pathogenic
8	85329771	G	A	G85329771A	CA1	NM_001128831.4(CA1):c.587C>T:p.Pro196Leu	coding	Benign
8	85332503	G	A	G85332503A	CA1	NM_001128831.4(CA1):c.500C>T:p.Ala167Val	coding	Benign
8	85333547	G	A	G85333547A	CA1	NM_001128831.4(CA1):c.428C>T:p.Ala143Val	coding	Benign
8	85333615	G	A	G85333615A	CA1	NM_001128831.4(CA1):c.360C>T:p.His120=	coding	Benign
8	85463901	A	T	A85463901T	CA2	NM_000067.2(CA2):c.-181A>T	noncoding	Benign
8	85464102	C	A	C85464102A	CA2	NM_000067.3(CA2):c.21C>A:p.Tyr7Ter	coding	Pathogenic
8	85465289	A	G	A85465289G	CA2	NM_000067.3(CA2):c.52A>G:p.Lys18Glu	coding	Pathogenic
8	85465357	T	G	T85465357G	CA2	NM_000067.3(CA2):c.120T>G:p.Tyr40Ter	coding	Pathogenic
8	85465470	G	A	G85465470A	CA2	NM_000067.3(CA2):c.232+1G>A	coding	Pathogenic
8	85473779	C	T	C85473779T	CA2	NM_000067.3(CA2):c.319C>T:p.His107Tyr	coding	Pathogenic
8	85477174	T	C	T85477174C	CA2	NM_000067.3(CA2):c.562T>C:p.Leu188=	coding	Benign
8	85477230	G	A	G85477230A	CA2	NM_000067.3(CA2):c.618G>A:p.Val206=	coding	Benign
8	85477260	C	T	C85477260T	CA2	NM_000067.3(CA2):c.648C>T:p.Ser216=	coding	Benign/Likely_benign
8	85480713	C	A	C85480713A	CA2	NM_000067.3(CA2):c.707C>A:p.Pro236His	coding	Pathogenic
8	85480760	A	G	A85480760G	CA2	NM_000067.3(CA2):c.754A>G:p.Asn252Asp	coding	Benign/Likely_benign
8	85481001	A	G	A85481001G	CA2	NM_000067.3(CA2):c.*212A>G	noncoding	Benign
8	85481092	C	T	C85481092T	CA2	NM_000067.3(CA2):c.*303C>T	noncoding	Benign
8	86151541	G	T	G86151541T	ATP6V0D2	NM_152565.1(ATP6V0D2):c.891+1G>T	coding	Benign
8	86573923	A	G	A86573923G	CNGB3	NM_019098.4(CNGB3):c.*1881T>C	noncoding	Benign
8	86574165	G	T	G86574165T	CNGB3	NM_019098.4(CNGB3):c.*1639C>A	noncoding	Benign
8	86574166	C	T	C86574166T	CNGB3	NM_019098.4(CNGB3):c.*1638G>A	noncoding	Benign
8	86574501	C	T	C86574501T	CNGB3	NM_019098.4(CNGB3):c.*1303G>A	noncoding	Benign
8	86574807	T	C	T86574807C	CNGB3	NM_019098.4(CNGB3):c.*997A>G	noncoding	Benign/Likely_benign
8	86574889	C	G	C86574889G	CNGB3	NM_019098.4(CNGB3):c.*915G>C	noncoding	Benign
8	86575026	A	G	A86575026G	CNGB3	NM_019098.4(CNGB3):c.*778T>C	noncoding	Benign
8	86575069	T	C	T86575069C	CNGB3	NM_019098.4(CNGB3):c.*735A>G	noncoding	Benign
8	86575415	T	G	T86575415G	CNGB3	NM_019098.4(CNGB3):c.*389A>C	noncoding	Benign
8	86575970	T	C	T86575970C	CNGB3	NM_019098.4(CNGB3):c.2264A>G:p.Glu755Gly	coding	Benign
8	86576020	T	C	T86576020C	CNGB3	NM_019098.4(CNGB3):c.2214A>G:p.Glu738=	coding	Benign
8	86578666	G	C	G86578666C	CNGB3	NM_019098.4(CNGB3):c.2103+23C>G	noncoding	Benign
8	86578688	C	T	C86578688T	CNGB3	NM_019098.4(CNGB3):c.2103+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	86578781	C	A	C86578781A	CNGB3	NM_019098.4(CNGB3):c.2011G>T:p.Glu671Ter	coding	Pathogenic
8	86579224	G	A	G86579224A	CNGB3	NM_019098.4(CNGB3):c.1810C>T:p.Arg604Ter	coding	Pathogenic
8	86579254	T	G	T86579254G	CNGB3	NM_019098.4(CNGB3):c.1782-2A>C	noncoding	Pathogenic
8	86604083	T	A	T86604083A	CNGB3	NM_019098.4(CNGB3):c.1781+10A>T	noncoding	Benign
8	86604092	C	A	C86604092A	CNGB3	NM_019098.4(CNGB3):c.1781+1G>T	noncoding	Pathogenic
8	86604092	C	G	C86604092G	CNGB3	NM_019098.4(CNGB3):c.1781+1G>C	noncoding	Pathogenic
8	86604092	C	T	C86604092T	CNGB3	NM_019098.4(CNGB3):c.1781+1G>A	noncoding	Pathogenic
8	86605416	C	T	C86605416T	CNGB3	NM_019098.4(CNGB3):c.1663-1205G>A	noncoding	Pathogenic
8	86611615	A	T	A86611615T	CNGB3	NM_019098.4(CNGB3):c.1635T>A:p.Tyr545Ter	coding	Pathogenic
8	86611624	G	A	G86611624A	CNGB3	NM_019098.4(CNGB3):c.1626C>T:p.Ser542=	coding	Benign/Likely_benign
8	86611672	C	T	C86611672T	CNGB3	NM_019098.4(CNGB3):c.1579-1G>A	coding	Pathogenic/Likely_pathogenic
8	86611673	T	C	T86611673C	CNGB3	NM_019098.4(CNGB3):c.1579-2A>G	noncoding	Pathogenic
8	86625982	C	A	C86625982A	CNGB3	NM_019098.4(CNGB3):c.1578+1G>T	noncoding	Pathogenic
8	86625982	C	T	C86625982T	CNGB3	NM_019098.4(CNGB3):c.1578+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	86628939	C	T	C86628939T	CNGB3	NM_019098.4(CNGB3):c.1460G>A:p.Trp487Ter	coding	Pathogenic
8	86628967	G	A	G86628967A	CNGB3	NM_019098.4(CNGB3):c.1432C>T:p.Arg478Ter	coding	Pathogenic
8	86628973	G	A	G86628973A	CNGB3	NM_019098.4(CNGB3):c.1426C>T:p.Gln476Ter	coding	Pathogenic
8	86629002	A	G	A86629002G	CNGB3	NM_019098.4(CNGB3):c.1397T>C:p.Met466Thr	coding	Benign
8	86629016	G	A	G86629016A	CNGB3	NM_019098.4(CNGB3):c.1383C>T:p.Asp461=	coding	Benign
8	86629043	C	T	C86629043T	CNGB3	NM_019098.4(CNGB3):c.1356G>A:p.Gln452=	coding	Benign
8	86632768	G	A	G86632768A	CNGB3	NM_019098.4(CNGB3):c.1304C>T:p.Ser435Phe	coding	Pathogenic
8	86632817	C	A	C86632817A	CNGB3	NM_019098.4(CNGB3):c.1255G>T:p.Glu419Ter	coding	Pathogenic
8	86632829	G	A	G86632829A	CNGB3	NM_019098.4(CNGB3):c.1243C>T:p.Gln415Ter	coding	Pathogenic
8	86632865	G	A	G86632865A	CNGB3	NM_019098.4(CNGB3):c.1207C>T:p.Arg403Ter	coding	Pathogenic
8	86632878	A	C	A86632878C	CNGB3	NM_019098.4(CNGB3):c.1194T>G:p.Tyr398Ter	coding	Pathogenic
8	86632899	A	G	A86632899G	CNGB3	NM_019098.4(CNGB3):c.1179-6T>C	noncoding	Benign
8	86632931	A	G	A86632931G	CNGB3	NM_019098.4(CNGB3):c.1179-38T>C	noncoding	Benign
8	86643810	C	T	C86643810T	CNGB3	NM_019098.4(CNGB3):c.1119G>A:p.Trp373Ter	coding	Pathogenic/Likely_pathogenic
8	86643866	G	A	G86643866A	CNGB3	NM_019098.4(CNGB3):c.1063C>T:p.Arg355Ter	coding	Pathogenic/Likely_pathogenic
8	86643875	T	C	T86643875C	CNGB3	NM_019098.4(CNGB3):c.1056-2A>G	noncoding	Pathogenic
8	86643875	T	G	T86643875G	CNGB3	NM_019098.4(CNGB3):c.1056-2A>C	noncoding	Pathogenic
8	86644621	C	G	C86644621G	CNGB3	NM_019098.4(CNGB3):c.1055+1G>C	noncoding	Pathogenic
8	86644671	C	A	C86644671A	CNGB3	NM_019098.4(CNGB3):c.1006G>T:p.Glu336Ter	coding	Pathogenic/Likely_pathogenic
8	86644689	A	C	A86644689C	CNGB3	NM_019098.4(CNGB3):c.991-3T>G	noncoding	Pathogenic/Likely_pathogenic
8	86647865	G	A	G86647865A	CNGB3	NM_019098.4(CNGB3):c.926C>T:p.Pro309Leu	coding	Pathogenic
8	86647872	T	C	T86647872C	CNGB3	NM_019098.4(CNGB3):c.919A>G:p.Ile307Val	coding	Benign
8	86647889	T	A	T86647889A	CNGB3	NM_019098.4(CNGB3):c.904-2A>T	noncoding	Pathogenic
8	86654023	T	G	T86654023G	CNGB3	NM_019098.4(CNGB3):c.892A>C:p.Thr298Pro	coding	Benign
8	86654033	G	C	G86654033C	CNGB3	NM_019098.4(CNGB3):c.882C>G:p.Tyr294Ter	coding	Pathogenic
8	86666924	C	G	C86666924G	CNGB3	NM_019098.4(CNGB3):c.852+1G>C	noncoding	Pathogenic
8	86667021	G	C	G86667021C	CNGB3	NM_019098.4(CNGB3):c.756C>G:p.Tyr252Ter	coding	Pathogenic
8	86667062	G	A	G86667062A	CNGB3	NM_019098.4(CNGB3):c.715C>T:p.Arg239Cys	coding	Benign
8	86667075	A	C	A86667075C	CNGB3	NM_019098.4(CNGB3):c.702T>G:p.Cys234Trp	coding	Benign
8	86667075	A	T	A86667075T	CNGB3	NM_019098.4(CNGB3):c.702T>A:p.Cys234Ter	coding	Pathogenic
8	86667134	C	G	C86667134G	CNGB3	NM_019098.4(CNGB3):c.644-1G>C	coding	Pathogenic/Likely_pathogenic
8	86668017	A	G	A86668017G	CNGB3	NM_019098.4(CNGB3):c.643+2T>C	noncoding	Pathogenic
8	86668054	C	T	C86668054T	CNGB3	NM_019098.4(CNGB3):c.608G>A:p.Arg203Gln	coding	Benign
8	86668055	G	A	G86668055A	CNGB3	NM_019098.4(CNGB3):c.607C>T:p.Arg203Ter	coding	Pathogenic/Likely_pathogenic
8	86668067	C	T	C86668067T	CNGB3	NM_019098.4(CNGB3):c.595G>A:p.Glu199Lys	coding	Benign/Likely_benign
8	86668095	C	T	C86668095T	CNGB3	NM_019098.4(CNGB3):c.567G>A:p.Trp189Ter	coding	Pathogenic
8	86668170	T	A	T86668170A	CNGB3	NM_019098.4(CNGB3):c.494-2A>T	noncoding	Pathogenic
8	86668179	A	G	A86668179G	CNGB3	NM_019098.4(CNGB3):c.494-11T>C	noncoding	Benign
8	86671046	G	A	G86671046A	CNGB3	NM_019098.4(CNGB3):c.391C>T:p.Gln131Ter	coding	Pathogenic/Likely_pathogenic
8	86671083	C	A	C86671083A	CNGB3	NM_019098.4(CNGB3):c.354G>T:p.Pro118=	coding	Benign/Likely_benign
8	86726568	G	A	G86726568A	CNGB3	NM_019098.4(CNGB3):c.301C>T:p.Gln101Ter	coding	Pathogenic
8	86726604	G	A	G86726604A	CNGB3	NM_019098.4(CNGB3):c.265C>T:p.Gln89Ter	coding	Pathogenic
8	86726660	A	G	A86726660G	CNGB3	NM_019098.4(CNGB3):c.212-3T>C	noncoding	Benign/Likely_benign
8	86739642	A	C	A86739642C	CNGB3	NM_019098.4(CNGB3):c.211+13T>G	noncoding	Benign
8	86739658	G	A	G86739658A	CNGB3	NM_019098.4(CNGB3):c.208C>T:p.Gln70Ter	coding	Pathogenic
8	86739737	C	A	C86739737A	CNGB3	NM_019098.4(CNGB3):c.130-1G>T	coding	Pathogenic
8	86743497	A	G	A86743497G	CNGB3	NM_019098.4(CNGB3):c.129+2T>C	noncoding	Pathogenic
8	86743516	G	A	G86743516A	CNGB3	NM_019098.4(CNGB3):c.112C>T:p.Gln38Ter	coding	Pathogenic/Likely_pathogenic
8	86743548	T	C	T86743548C	CNGB3	NM_019098.4(CNGB3):c.80A>G:p.Asn27Ser	coding	Benign/Likely_benign
8	86743625	C	T	C86743625T	CNGB3	NM_019098.4(CNGB3):c.3G>A:p.Met1Ile	coding	Pathogenic
8	86743626	A	G	A86743626G	CNGB3	NM_019098.4(CNGB3):c.2T>C:p.Met1Thr	coding	Pathogenic
8	86743663	A	C	A86743663C	CNGB3	NM_019098.4(CNGB3):c.-36T>G	noncoding	Benign
8	88074696	G	A	G88074696A	MMP16	NM_005941.5(MMP16):c.1131C>T:p.Tyr377=	coding	Benign
8	88327105	G	C	G88327105C	MMP16	NM_005941.5(MMP16):c.102C>G:p.Val34=	coding	Benign
8	89769900	A	T	A89769900T	RIPK2	NM_003821.6(RIPK2):c.612A>T:p.Ser204=	coding	Benign
8	89772777	C	G	C89772777G	RIPK2	NM_003821.6(RIPK2):c.802C>G:p.Leu268Val	coding	Benign
8	89914707	C	T	C89914707T	OSGIN2	NM_001126111.3(OSGIN2):c.489C>T:p.His163=	coding	Benign
8	89924970	G	C	G89924970C	OSGIN2	NM_001126111.3(OSGIN2):c.1088G>C:p.Cys363Ser	coding	Benign
8	89933605	A	G	A89933605G	NBN	NM_002485.4(NBN):c.*1977T>C	noncoding	Benign
8	89933621	A	G	A89933621G	NBN	NM_002485.4(NBN):c.*1961T>C	noncoding	Benign
8	89933828	A	G	A89933828G	NBN	NM_002485.4(NBN):c.*1754T>C	noncoding	Benign
8	89933890	T	C	T89933890C	NBN	NM_002485.4(NBN):c.*1692A>G	noncoding	Benign
8	89934373	T	G	T89934373G	NBN	NM_002485.4(NBN):c.*1209A>C	noncoding	Benign
8	89934569	C	T	C89934569T	NBN	NM_002485.4(NBN):c.*1013G>A	noncoding	Benign
8	89934645	A	G	A89934645G	NBN	NM_002485.4(NBN):c.*937T>C	noncoding	Benign
8	89934792	A	C	A89934792C	NBN	NM_002485.4(NBN):c.*790T>G	noncoding	Benign
8	89934825	T	C	T89934825C	NBN	NM_002485.4(NBN):c.*757A>G	noncoding	Benign
8	89935041	C	G	C89935041G	NBN	NM_002485.4(NBN):c.*541G>C	noncoding	Benign
8	89935163	G	A	G89935163A	NBN	NM_002485.4(NBN):c.*419C>T	noncoding	Benign
8	89935309	C	T	C89935309T	NBN	NM_002485.4(NBN):c.*273G>A	noncoding	Benign
8	89935630	G	A	G89935630A	NBN	NM_002485.4(NBN):c.2235-18C>T	noncoding	Benign/Likely_benign
8	89935784	G	A	G89935784A	NBN	NM_002485.4(NBN):c.2235-172C>T	noncoding	Benign
8	89937040	A	G	A89937040G	NBN	NM_002485.4(NBN):c.2220T>C:p.Ala740=	coding	Benign/Likely_benign
8	89937064	T	C	T89937064C	NBN	NM_002485.4(NBN):c.2196A>G:p.Gln732=	coding	Benign/Likely_benign
8	89937072	G	A	G89937072A	NBN	NM_002485.4(NBN):c.2188C>T:p.Gln730Ter	coding	Pathogenic
8	89943264	G	A	G89943264A	NBN	NM_002485.5(NBN):c.2173C>T:p.Gln725Ter	coding	Pathogenic
8	89943272	C	T	C89943272T	NBN	NM_002485.4(NBN):c.2165G>A:p.Trp722Ter	coding	Pathogenic
8	89943276	C	A	C89943276A	NBN	NM_002485.4(NBN):c.2161G>T:p.Glu721Ter	coding	Pathogenic/Likely_pathogenic
8	89943291	T	C	T89943291C	NBN	NM_002485.4(NBN):c.2146A>G:p.Asn716Asp	coding	Benign/Likely_benign
8	89943297	G	A	G89943297A	NBN	NM_002485.4(NBN):c.2140C>T:p.Arg714Ter	coding	Pathogenic/Likely_pathogenic
8	89943320	G	C	G89943320C	NBN	NM_002485.4(NBN):c.2117C>G:p.Ser706Ter	coding	Pathogenic/Likely_pathogenic
8	89943327	C	A	C89943327A	NBN	NM_002485.5(NBN):c.2110G>T:p.Gly704Ter	coding	Pathogenic
8	89943354	C	A	C89943354A	NBN	NM_002485.4(NBN):c.2083G>T:p.Gly695Ter	coding	Pathogenic
8	89943355	A	C	A89943355C	NBN	NM_002485.4(NBN):c.2082T>G:p.Pro694=	coding	Benign
8	89943396	T	A	T89943396A	NBN	NM_002485.4(NBN):c.2071-30A>T	noncoding	Benign
8	89946154	T	A	T89946154A	NBN	NM_002485.4(NBN):c.2056A>T:p.Lys686Ter	coding	Pathogenic
8	89946169	G	A	G89946169A	NBN	NM_002485.4(NBN):c.2041C>T:p.Gln681Ter	coding	Pathogenic
8	89946194	T	C	T89946194C	NBN	NM_002485.5(NBN):c.2016A>G:p.Pro672=	coding	Benign
8	89946302	T	C	T89946302C	NBN	NM_002485.5(NBN):c.1915-7A>G	noncoding	Benign
8	89947815	G	A	G89947815A	NBN	NM_002485.4(NBN):c.1914+9C>T	noncoding	Benign
8	89947835	T	A	T89947835A	NBN	NM_002485.4(NBN):c.1903A>T:p.Lys635Ter	coding	Pathogenic/Likely_pathogenic
8	89947856	C	T	C89947856T	NBN	NM_002485.4(NBN):c.1882G>A:p.Glu628Lys	coding	Benign/Likely_benign
8	89947889	C	A	C89947889A	NBN	NM_002485.5(NBN):c.1849G>T:p.Glu617Ter	coding	Pathogenic
8	89953339	C	A	C89953339A	NBN	NM_002485.4(NBN):c.1750G>T:p.Glu584Ter	coding	Pathogenic
8	89953342	G	A	G89953342A	NBN	NM_002485.4(NBN):c.1747C>T:p.Gln583Ter	coding	Pathogenic/Likely_pathogenic
8	89953348	G	A	G89953348A	NBN	NM_002485.5(NBN):c.1741C>T:p.Gln581Ter	coding	Pathogenic
8	89953366	C	A	C89953366A	NBN	NM_002485.4(NBN):c.1723G>T:p.Glu575Ter	coding	Pathogenic/Likely_pathogenic
8	89953396	G	A	G89953396A	NBN	NM_002485.4(NBN):c.1693C>T:p.Gln565Ter	coding	Pathogenic
8	89953399	C	T	C89953399T	NBN	NM_002485.4(NBN):c.1690G>A:p.Glu564Lys	coding	Benign/Likely_benign
8	89953444	T	A	T89953444A	NBN	NM_002485.5(NBN):c.1645A>T:p.Lys549Ter	coding	Pathogenic
8	89953536	G	C	G89953536C	NBN	NM_002485.4(NBN):c.1553C>G:p.Ser518Ter	coding	Pathogenic
8	89953573	G	A	G89953573A	NBN	NM_002485.5(NBN):c.1516C>T:p.Gln506Ter	coding	Pathogenic
8	89953587	C	T	C89953587T	NBN	NM_002485.4(NBN):c.1502G>A:p.Trp501Ter	coding	Pathogenic/Likely_pathogenic
8	89953593	G	C	G89953593C	NBN	NM_002485.5(NBN):c.1496C>G:p.Ser499Ter	coding	Pathogenic
8	89953600	T	C	T89953600C	NBN	NM_002485.4(NBN):c.1489A>G:p.Thr497Ala	coding	Benign/Likely_benign
8	89953615	G	A	G89953615A	NBN	NM_002485.4(NBN):c.1474C>T:p.Gln492Ter	coding	Pathogenic
8	89953690	C	A	C89953690A	NBN	NM_002485.4(NBN):c.1399G>T:p.Glu467Ter	coding	Pathogenic
8	89953710	G	A	G89953710A	NBN	NM_002485.4(NBN):c.1398-19C>T	noncoding	Benign
8	89955281	A	T	A89955281T	NBN	NM_002485.4(NBN):c.1397+2T>A	noncoding	Pathogenic/Likely_pathogenic
8	89955353	T	A	T89955353A	NBN	NM_002485.4(NBN):c.1327A>T:p.Lys443Ter	coding	Pathogenic
8	89955427	G	T	G89955427T	NBN	NM_002485.4(NBN):c.1253C>A:p.Ser418Ter	coding	Pathogenic
8	89955458	T	C	T89955458C	NBN	NM_002485.4(NBN):c.1222A>G:p.Lys408Glu	coding	Benign/Likely_benign
8	89955483	A	G	A89955483G	NBN	NM_002485.5(NBN):c.1197T>C:p.Asp399=	coding	Benign
8	89955509	G	A	G89955509A	NBN	NM_002485.4(NBN):c.1171C>T:p.Gln391Ter	coding	Pathogenic
8	89955555	C	T	C89955555T	NBN	NM_002485.4(NBN):c.1125G>A:p.Trp375Ter	coding	Pathogenic
8	89958705	C	T	C89958705T	NBN	NM_002485.4(NBN):c.1124+20G>A	noncoding	Benign/Likely_benign
8	89958706	G	A	G89958706A	NBN	NM_002485.4(NBN):c.1124+19C>T	noncoding	Benign
8	89958707	G	A	G89958707A	NBN	NM_002485.4(NBN):c.1124+18C>T	noncoding	Benign
8	89958725	C	T	C89958725T	NBN	NM_002485.4(NBN):c.1124G>A:p.Trp375Ter	coding	Pathogenic
8	89958760	G	C	G89958760C	NBN	NM_002485.5(NBN):c.1089C>G:p.Tyr363Ter	coding	Pathogenic
8	89958760	G	T	G89958760T	NBN	NM_002485.4(NBN):c.1089C>A:p.Tyr363Ter	coding	Pathogenic
8	89958801	C	A	C89958801A	NBN	NM_002485.5(NBN):c.1048G>T:p.Glu350Ter	coding	Pathogenic
8	89958809	G	C	G89958809C	NBN	NM_002485.4(NBN):c.1040C>G:p.Ser347Ter	coding	Pathogenic
8	89958814	G	A	G89958814A	NBN	NM_002485.4(NBN):c.1035C>T:p.Gly345=	coding	Benign/Likely_benign
8	89958819	G	A	G89958819A	NBN	NM_002485.4(NBN):c.1030C>T:p.Gln344Ter	coding	Pathogenic/Likely_pathogenic
8	89958871	T	C	T89958871C	NBN	NM_002485.4(NBN):c.995-17A>G	noncoding	Benign/Likely_benign
8	89964428	G	A	G89964428A	NBN	NM_002485.4(NBN):c.976C>T:p.Gln326Ter	coding	Pathogenic
8	89964438	G	C	G89964438C	NBN	NM_002485.4(NBN):c.966C>G:p.Tyr322Ter	coding	Pathogenic
8	89964465	C	T	C89964465T	NBN	NM_002485.4(NBN):c.939G>A:p.Ala313=	coding	Benign/Likely_benign
8	89964469	A	T	A89964469T	NBN	NM_002485.4(NBN):c.935T>A:p.Leu312Ter	coding	Pathogenic/Likely_pathogenic
8	89970389	G	A	G89970389A	NBN	NM_002485.4(NBN):c.871C>T:p.Gln291Ter	coding	Pathogenic
8	89970418	A	C	A89970418C	NBN	NM_002485.4(NBN):c.842T>G:p.Leu281Ter	coding	Pathogenic
8	89970456	C	T	C89970456T	NBN	NM_002485.4(NBN):c.804G>A:p.Thr268=	coding	Benign/Likely_benign
8	89970463	G	A	G89970463A	NBN	NM_002485.4(NBN):c.797C>T:p.Pro266Leu	coding	Benign
8	89970575	C	T	C89970575T	NBN	NM_002485.4(NBN):c.703-18G>A	noncoding	Benign
8	89971172	C	A	C89971172A	NBN	NM_002485.4(NBN):c.702+1G>T	noncoding	Pathogenic/Likely_pathogenic
8	89971271	C	A	C89971271A	NBN	NM_002485.5(NBN):c.604G>T:p.Glu202Ter	coding	Pathogenic
8	89978218	A	G	A89978218G	NBN	NM_002485.5(NBN):c.584+2T>C	noncoding	Pathogenic/Likely_pathogenic
8	89978230	G	A	G89978230A	NBN	NM_002485.4(NBN):c.574C>T:p.Gln192Ter	coding	Pathogenic
8	89978239	G	A	G89978239A	NBN	NM_002485.4(NBN):c.565C>T:p.Gln189Ter	coding	Pathogenic
8	89978251	C	G	C89978251G	NBN	NM_002485.5(NBN):c.553G>C:p.Glu185Gln	coding	Benign
8	89978341	T	C	T89978341C	NBN	NM_002485.4(NBN):c.481-18A>G	noncoding	Benign/Likely_benign
8	89980773	G	A	G89980773A	NBN	NM_002485.4(NBN):c.441C>T:p.Cys147=	coding	Benign/Likely_benign
8	89980778	C	A	C89980778A	NBN	NM_002485.5(NBN):c.436G>T:p.Glu146Ter	coding	Pathogenic
8	89980785	C	T	C89980785T	NBN	NM_002485.5(NBN):c.429G>A:p.Trp143Ter	coding	Pathogenic
8	89980788	A	G	A89980788G	NBN	NM_002485.4(NBN):c.426T>C:p.Asn142=	coding	Benign/Likely_benign
8	89980831	A	C	A89980831C	NBN	NM_002485.4(NBN):c.383T>G:p.Leu128Ter	coding	Pathogenic
8	89980833	A	G	A89980833G	NBN	NM_002485.5(NBN):c.381T>C:p.Ala127=	coding	Benign/Likely_benign
8	89980855	A	C	A89980855C	NBN	NM_002485.5(NBN):c.359T>G:p.Leu120Ter	coding	Pathogenic
8	89980884	A	C	A89980884C	NBN	NM_002485.4(NBN):c.330T>G:p.Tyr110Ter	coding	Pathogenic
8	89980889	C	A	C89980889A	NBN	NM_002485.4(NBN):c.325G>T:p.Glu109Ter	coding	Pathogenic
8	89981117	A	G	A89981117G	NBN	NM_002485.4(NBN):c.321-224T>C	noncoding	Benign
8	89981175	G	T	G89981175T	NBN	NM_002485.4(NBN):c.320+200C>A	noncoding	Benign
8	89981416	C	T	C89981416T	NBN	NM_002485.4(NBN):c.279G>A:p.Ser93=	coding	Benign/Likely_benign
8	89981430	G	A	G89981430A	NBN	NM_002485.4(NBN):c.265C>T:p.Arg89Ter	coding	Pathogenic/Likely_pathogenic
8	89981445	G	A	G89981445A	NBN	NM_002485.4(NBN):c.250C>T:p.Gln84Ter	coding	Pathogenic
8	89981454	C	A	C89981454A	NBN	NM_002485.4(NBN):c.241G>T:p.Glu81Ter	coding	Pathogenic
8	89981473	A	C	A89981473C	NBN	NM_002485.4(NBN):c.222T>G:p.Tyr74Ter	coding	Pathogenic
8	89981520	G	A	G89981520A	NBN	NM_002485.4(NBN):c.175C>T:p.Gln59Ter	coding	Pathogenic/Likely_pathogenic
8	89982589	T	C	T89982589C	NBN	NM_002485.4(NBN):c.171+133A>G	noncoding	Benign
8	89982766	G	A	G89982766A	NBN	NM_002485.4(NBN):c.127C>T:p.Arg43Ter	coding	Pathogenic/Likely_pathogenic
8	89982778	G	A	G89982778A	NBN	NM_002485.5(NBN):c.115C>T:p.Gln39Ter	coding	Pathogenic
8	89982791	C	T	C89982791T	NBN	NM_002485.5(NBN):c.102G>A:p.Leu34=	coding	Benign
8	89984514	T	C	T89984514C	NBN	NM_002485.4(NBN):c.37+11A>G	noncoding	Benign
8	89984520	C	T	C89984520T	NBN	NM_002485.4(NBN):c.37+5G>A	noncoding	Benign
8	89984555	T	A	T89984555A	NBN	NM_002485.4(NBN):c.7A>T:p.Lys3Ter	coding	Pathogenic/Likely_pathogenic
8	89984573	C	T	C89984573T	NBN	NM_002485.4(NBN):c.-12G>A	noncoding	Benign/Likely_benign
8	89984598	C	T	C89984598T	NBN	NM_002485.4(NBN):c.-37G>A	noncoding	Benign
8	90019121	T	C	T90019121C	DECR1	NM_001359.2(DECR1):c.366T>C:p.Asp122=	coding	Benign
8	90020923	T	C	T90020923C	DECR1	NM_001359.2(DECR1):c.432T>C:p.Asn144=	coding	Benign
8	90060698	G	A	G90060698A	CALB1	NM_004929.4(CALB1):c.603C>T:p.Asp201=	coding	Benign
8	91071136	A	G	A91071136G	OTUD6B	NM_016023.5(OTUD6B):c.83-2A>G	noncoding	Pathogenic
8	91078383	C	T	C91078383T	OTUD6B	NM_016023.5(OTUD6B):c.343C>T:p.Arg115Ter	coding	Pathogenic
8	91084115	G	A	G91084115A	OTUD6B	NM_016023.5(OTUD6B):c.797+1G>A	coding	Pathogenic
8	91343371	C	T	C91343371T	SLC26A7	NM_052832.4(SLC26A7):c.1045C>T:p.Leu349Phe	coding	Benign
8	91362401	G	A	G91362401A	SLC26A7	NM_052832.4(SLC26A7):c.1363G>A:p.Val455Met	coding	Benign
8	91960491	C	T	C91960491T	RUNX1T1	NM_175635.3(RUNX1T1):c.1455G>A:p.Ala485=	coding	Benign
8	91970841	G	A	G91970841A	RUNX1T1	NM_175635.3(RUNX1T1):c.1245C>T:p.Ala415=	coding	Benign
8	91986238	A	G	A91986238G	RUNX1T1	NM_175635.3(RUNX1T1):c.1054T>C:p.Leu352=	coding	Benign
8	91986880	G	A	G91986880A	RUNX1T1	NM_175635.3(RUNX1T1):c.966+7C>T	noncoding	Benign
8	91991802	G	A	G91991802A	RUNX1T1	NM_175635.3(RUNX1T1):c.717C>T:p.Tyr239=	coding	Benign
8	92014582	T	C	T92014582C	RUNX1T1	NM_175635.3(RUNX1T1):c.354A>G:p.Leu118=	coding	Benign
8	93709810	C	T	C93709810T	CIBAR1	NM_145269.5(CIBAR1):c.478C>T:p.Arg160Ter	coding	Pathogenic/Likely_pathogenic
8	93754889	G	C	G93754889C	TMEM67	NM_001142301.1(TMEM67):c.-200G>C	noncoding	Benign/Likely_benign
8	93754939	G	A	G93754939A	TMEM67	NM_153704.6(TMEM67):c.25G>A:p.Val9Met	coding	Benign/Likely_benign
8	93755044	C	T	C93755044T	TMEM67	NM_153704.6(TMEM67):c.130C>T:p.Gln44Ter	coding	Pathogenic
8	93755798	C	T	C93755798T	TMEM67	NM_153704.6(TMEM67):c.244C>T:p.Pro82Ser	coding	Pathogenic
8	93755854	C	A	C93755854A	TMEM67	NM_153704.6(TMEM67):c.300C>A:p.Cys100Ter	coding	Pathogenic
8	93755871	G	A	G93755871A	TMEM67	NM_001142301.1(TMEM67):c.-62+734G>A	noncoding	Pathogenic
8	93755896	C	G	C93755896G	TMEM67	NM_001142301.1(TMEM67):c.-62+759C>G	noncoding	Benign
8	93756060	T	G	T93756060G	TMEM67	NM_001142301.1(TMEM67):c.-62+923T>G	noncoding	Benign
8	93758559	C	G	C93758559G	TMEM67	NM_153704.6(TMEM67):c.389C>G:p.Pro130Arg	coding	Pathogenic
8	93763570	C	T	C93763570T	TMEM67	NM_001142301.1(TMEM67):c.164-272C>T	noncoding	Benign
8	93763874	C	T	C93763874T	TMEM67	NM_153704.6(TMEM67):c.439C>T:p.Gln147Ter	coding	Pathogenic
8	93763989	G	A	G93763989A	TMEM67	NM_001142301.1(TMEM67):c.263+48G>A	noncoding	Benign/Likely_benign
8	93765387	T	C	T93765387C	TMEM67	NM_001142301.1(TMEM67):c.264-19T>C	noncoding	Benign/Likely_benign
8	93765413	C	T	C93765413T	TMEM67	NM_153704.6(TMEM67):c.514C>T:p.Arg172Ter	coding	Pathogenic/Likely_pathogenic
8	93765414	G	A	G93765414A	TMEM67	NM_153704.6(TMEM67):c.515G>A:p.Arg172Gln	coding	Pathogenic
8	93765617	A	T	A93765617T	TMEM67	NM_153704.6(TMEM67):c.622A>T:p.Arg208Ter	coding	Pathogenic
8	93772612	G	A	G93772612A	TMEM67	NM_153704.6(TMEM67):c.675G>A:p.Trp225Ter	coding	Pathogenic
8	93780603	A	G	A93780603G	TMEM67	NM_153704.6(TMEM67):c.725A>G:p.Asn242Ser	coding	Pathogenic/Likely_pathogenic
8	93780608	A	G	A93780608G	TMEM67	NM_153704.6(TMEM67):c.730A>G:p.Thr244Ala	coding	Pathogenic
8	93780633	T	C	T93780633C	TMEM67	NM_153704.6(TMEM67):c.755T>C:p.Met252Thr	coding	Pathogenic
8	93780647	A	G	A93780647G	TMEM67	NM_153704.6(TMEM67):c.769A>G:p.Met257Val	coding	Pathogenic
8	93780659	G	A	G93780659A	TMEM67	NM_153704.6(TMEM67):c.781G>A:p.Asp261Asn	coding	Benign/Likely_benign
8	93780741	C	A	C93780741A	TMEM67	NM_153704.6(TMEM67):c.863C>A:p.Ser288Ter	coding	Pathogenic
8	93780747	G	T	G93780747T	TMEM67	NM_153704.6(TMEM67):c.869G>T:p.Trp290Leu	coding	Pathogenic
8	93780844	C	T	C93780844T	TMEM67	NM_001142301.1(TMEM67):c.627-30C>T	noncoding	Benign
8	93780845	A	G	A93780845G	TMEM67	NM_001142301.1(TMEM67):c.627-29A>G	noncoding	Benign
8	93780872	A	G	A93780872G	TMEM67	NM_001142301.1(TMEM67):c.627-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	93780891	G	A	G93780891A	TMEM67	NM_153704.6(TMEM67):c.887G>A:p.Trp296Ter	coding	Pathogenic
8	93780985	A	G	A93780985G	TMEM67	NM_001142301.1(TMEM67):c.735+3A>G	noncoding	Pathogenic
8	93781494	T	C	T93781494C	TMEM67	NM_001142301.1(TMEM67):c.736-164T>C	noncoding	Benign
8	93781725	T	C	T93781725C	TMEM67	NM_153704.6(TMEM67):c.1046T>C:p.Leu349Ser	coding	Pathogenic/Likely_pathogenic
8	93782392	C	T	C93782392T	TMEM67	NM_001142301.1(TMEM67):c.823-3C>T	noncoding	Benign
8	93782402	C	T	C93782402T	TMEM67	NM_153704.6(TMEM67):c.1073C>T:p.Pro358Leu	coding	Pathogenic
8	93782407	A	G	A93782407G	TMEM67	NM_153704.6(TMEM67):c.1078A>G:p.Thr360Ala	coding	Benign/Likely_benign
8	93782410	G	T	G93782410T	TMEM67	NM_153704.6(TMEM67):c.1081G>T:p.Glu361Ter	coding	Pathogenic
8	93782444	C	A	C93782444A	TMEM67	NM_153704.6(TMEM67):c.1115C>A:p.Thr372Lys	coding	Pathogenic/Likely_pathogenic
8	93782455	C	G	C93782455G	TMEM67	NM_153704.6(TMEM67):c.1126C>G:p.Gln376Glu	coding	Pathogenic
8	93782456	A	C	A93782456C	TMEM67	NM_153704.6(TMEM67):c.1127A>C:p.Gln376Pro	coding	Pathogenic
8	93782605	C	T	C93782605T	TMEM67	NM_001142301.1(TMEM67):c.888+145C>T	noncoding	Benign
8	93785424	C	T	C93785424T	TMEM67	NM_001142301.1(TMEM67):c.1045+46C>T	noncoding	Benign
8	93786223	A	G	A93786223G	TMEM67	NM_153704.6(TMEM67):c.1289A>G:p.Asp430Gly	coding	Pathogenic
8	93786255	C	T	C93786255T	TMEM67	NM_153704.6(TMEM67):c.1321C>T:p.Arg441Cys	coding	Pathogenic/Likely_pathogenic
8	93786285	C	T	C93786285T	TMEM67	NM_153704.6(TMEM67):c.1351C>T:p.Arg451Ter	coding	Pathogenic
8	93787842	A	G	A93787842G	TMEM67	NM_001142301.1(TMEM67):c.1170-2A>G	noncoding	Pathogenic
8	93787843	G	C	G93787843C	TMEM67	NM_001142301.1(TMEM67):c.1170-1G>C	noncoding	Pathogenic
8	93787884	C	T	C93787884T	TMEM67	NM_153704.6(TMEM67):c.1453C>T:p.Pro485Ser	coding	Pathogenic
8	93787967	T	C	T93787967C	TMEM67	NM_001142301.1(TMEM67):c.1275+18T>C	noncoding	Benign
8	93791282	A	G	A93791282G	TMEM67	NM_153704.6(TMEM67):c.1538A>G:p.Tyr513Cys	coding	Pathogenic
8	93791320	G	A	G93791320A	TMEM67	NM_001142301.1(TMEM67):c.1332+1G>A	coding	Pathogenic/Likely_pathogenic
8	93791372	G	A	G93791372A	TMEM67	NM_001142301.1(TMEM67):c.1332+53G>A	noncoding	Benign
8	93793256	G	A	G93793256A	TMEM67	NM_153704.6(TMEM67):c.1634G>A:p.Gly545Glu	coding	Pathogenic
8	93793267	C	T	C93793267T	TMEM67	NM_153704.6(TMEM67):c.1645C>T:p.Arg549Cys	coding	Pathogenic
8	93793299	A	G	A93793299G	TMEM67	NM_001142301.1(TMEM67):c.1431+3A>G	noncoding	Pathogenic
8	93793421	G	A	G93793421A	TMEM67	NM_001142301.1(TMEM67):c.1431+125G>A	noncoding	Benign
8	93795503	T	C	T93795503C	TMEM67	NM_153704.6(TMEM67):c.1769T>C:p.Phe590Ser	coding	Pathogenic
8	93795937	A	G	A93795937G	TMEM67	NM_153704.6(TMEM67):c.1810A>G:p.Ile604Val	coding	Benign
8	93795970	T	C	T93795970C	TMEM67	NM_153704.6(TMEM67):c.1843T>C:p.Cys615Arg	coding	Pathogenic/Likely_pathogenic
8	93797184	C	A	C93797184A	TMEM67	NM_153704.6(TMEM67):c.1911C>A:p.Phe637Leu	coding	Pathogenic
8	93797329	A	C	A93797329C	TMEM67	NM_001142301.1(TMEM67):c.1718-2A>C	noncoding	Pathogenic
8	93797380	A	G	A93797380G	TMEM67	NM_153704.6(TMEM67):c.2010A>G:p.Thr670=	coding	Benign/Likely_benign
8	93803652	C	T	C93803652T	TMEM67	NM_153704.6(TMEM67):c.2290C>T:p.Arg764Ter	coding	Pathogenic
8	93804807	C	A	C93804807A	TMEM67	NM_153704.6(TMEM67):c.2368C>A:p.His790Asn	coding	Pathogenic
8	93804836	T	C	T93804836C	TMEM67	NM_153704.6(TMEM67):c.2397T>C:p.Asp799=	coding	Benign
8	93804849	G	T	G93804849T	TMEM67	NM_153704.6(TMEM67):c.2410G>T:p.Glu804Ter	coding	Pathogenic
8	93804883	G	C	G93804883C	TMEM67	NM_153704.6(TMEM67):c.2439+5G>C	noncoding	Pathogenic
8	93808834	T	C	T93808834C	TMEM67	NM_153704.6(TMEM67):c.2440-6T>C	noncoding	Benign
8	93808861	G	A	G93808861A	TMEM67	NM_153704.6(TMEM67):c.2461G>A:p.Gly821Ser	coding	Pathogenic
8	93808861	G	C	G93808861C	TMEM67	NM_153704.6(TMEM67):c.2461G>C:p.Gly821Arg	coding	Pathogenic
8	93808898	T	C	T93808898C	TMEM67	NM_153704.6(TMEM67):c.2498T>C:p.Ile833Thr	coding	Pathogenic/Likely_pathogenic
8	93808922	A	C	A93808922C	TMEM67	NM_153704.6(TMEM67):c.2522A>C:p.Gln841Pro	coding	Pathogenic
8	93808957	G	T	G93808957T	TMEM67	NM_001142301.1(TMEM67):c.2313+1G>T	coding	Pathogenic
8	93815341	G	A	G93815341A	TMEM67	NM_153704.6(TMEM67):c.2801G>A:p.Gly934Glu	coding	Pathogenic
8	93815365	T	G	T93815365G	TMEM67	NM_153704.6(TMEM67):c.2825T>G:p.Phe942Cys	coding	Pathogenic
8	93815432	A	C	A93815432C	TMEM67	NM_153704.6(TMEM67):c.2892A>C:p.Thr964=	coding	Benign
8	93816329	C	T	C93816329T	TMEM67	NM_001142301.1(TMEM67):c.2665-43C>T	noncoding	Benign/Likely_benign
8	93816371	G	T	G93816371T	TMEM67	NM_153704.6(TMEM67):c.2908-1G>T	noncoding	Pathogenic
8	93816471	T	C	T93816471C	TMEM67	NM_153704.6(TMEM67):c.*19T>C	noncoding	Benign/Likely_benign
8	93916851	T	A	T93916851A	PDP1	NM_018444.3(PDP1):c.-273T>A	noncoding	Benign
8	93922336	G	T	G93922336T	PDP1	NM_018444.4(PDP1):c.277G>T:p.Glu93Ter	coding	Pathogenic
8	93922776	C	G	C93922776G	PDP1	NM_018444.4(PDP1):c.717C>G:p.Ala239=	coding	Benign/Likely_benign
8	93922965	C	T	C93922965T	PDP1	NM_018444.4(PDP1):c.906C>T:p.Asp302=	coding	Benign
8	93922968	C	T	C93922968T	PDP1	NM_018444.4(PDP1):c.909C>T:p.Gly303=	coding	Benign
8	93923490	C	T	C93923490T	PDP1	NM_018444.4(PDP1):c.1431C>T:p.Asn477=	coding	Benign
8	93923655	G	A	G93923655A	PDP1	NM_018444.4(PDP1):c.1596G>A:p.Ala532=	coding	Benign
8	94130660	T	C	T94130660C	CDH17	NM_004063.4(CDH17):c.2364A>G:p.Ala788=	coding	Benign
8	94145974	G	A	G94145974A	CDH17	NM_004063.4(CDH17):c.2121C>T:p.Leu707=	coding	Benign
8	94160026	C	T	C94160026T	CDH17	NM_004063.4(CDH17):c.1496G>A:p.Arg499His	coding	Benign
8	94160155	T	C	T94160155C	CDH17	NM_004063.4(CDH17):c.1367A>G:p.Asn456Ser	coding	Benign
8	94176590	C	T	C94176590T	CDH17	NM_004063.4(CDH17):c.375G>A:p.Thr125=	coding	Benign
8	94260321	G	C	G94260321C	GEM	NM_005261.4(GEM):c.183C>G:p.Asp61Glu	coding	Benign
8	94260392	G	A	G94260392A	GEM	NM_005261.4(GEM):c.112C>T:p.His38Tyr	coding	Benign
8	94391640	T	C	T94391640C	RAD54B	NM_012415.3(RAD54B):c.1778A>G:p.Asn593Ser	coding	Benign
8	94399540	C	A	C94399540A	RAD54B	NM_012415.3(RAD54B):c.1252G>T:p.Asp418Tyr	coding	Pathogenic
8	94400394	C	T	C94400394T	RAD54B	NM_012415.3(RAD54B):c.1014G>A:p.Ser338=	coding	Benign
8	94407566	C	T	C94407566T	RAD54B	NM_012415.3(RAD54B):c.654G>A:p.Ser218=	coding	Benign
8	94641946	A	G	A94641946G	ESRP1	NM_017697.4(ESRP1):c.133-10A>G	noncoding	Benign
8	94646179	A	G	A94646179G	ESRP1	NM_017697.4(ESRP1):c.387A>G:p.Leu129=	coding	Benign
8	94662380	G	T	G94662380T	ESRP1	NM_017697.4(ESRP1):c.589+10G>T	noncoding	Benign
8	94664946	C	G	C94664946G	ESRP1	NM_017697.4(ESRP1):c.775C>G:p.Leu259Val	coding	Pathogenic
8	94668229	C	T	C94668229T	ESRP1	NM_017697.4(ESRP1):c.1212C>T:p.Ser404=	coding	Benign
8	94838494	A	G	A94838494G	INTS8	NM_017864.4(INTS8):c.893A>G:p.Asp298Gly	coding	Pathogenic
8	94853922	A	G	A94853922G	INTS8	NM_017864.4(INTS8):c.1752+7A>G	noncoding	Benign
8	94866159	A	C	A94866159C	INTS8	NM_017864.4(INTS8):c.2263A>C:p.Ser755Arg	coding	Benign
8	94876224	T	C	T94876224C	INTS8	NM_017864.4(INTS8):c.2766T>C:p.His922=	coding	Benign
8	95024978	G	T	G95024978T	NDUFAF6	NM_001354514.2(NDUFAF6):c.-83-7017G>T	noncoding	Benign
8	95025059	C	A	C95025059A	NDUFAF6	NM_152416.4(NDUFAF6):c.51C>A:p.Ile17=	coding	Benign
8	95032003	A	T	A95032003T	NDUFAF6	NM_152416.4(NDUFAF6):c.206A>T:p.Asp69Val	coding	Pathogenic
8	95032019	A	G	A95032019G	NDUFAF6	NM_152416.4(NDUFAF6):c.222A>G:p.Leu74=	coding	Benign/Likely_benign
8	95032022	C	T	C95032022T	NDUFAF6	NM_152416.4(NDUFAF6):c.225C>T:p.Cys75=	coding	Benign
8	95032023	T	C	T95032023C	NDUFAF6	NM_152416.4(NDUFAF6):c.226T>C:p.Ser76Pro	coding	Pathogenic
8	95032093	A	G	A95032093G	NDUFAF6	NM_152416.4(NDUFAF6):c.296A>G:p.Gln99Arg	coding	Pathogenic
8	95034723	A	G	A95034723G	NDUFAF6	NM_152416.4(NDUFAF6):c.298-731A>G	noncoding	Benign
8	95035493	C	T	C95035493T	NDUFAF6	NM_152416.4(NDUFAF6):c.337C>T:p.Arg113Ter	coding	Pathogenic
8	95036360	C	T	C95036360T	NDUFAF6	NM_152416.4(NDUFAF6):c.420+784C>T	noncoding	Pathogenic
8	95045599	G	C	G95045599C	NDUFAF6	NM_152416.4(NDUFAF6):c.532G>C:p.Ala178Pro	coding	Pathogenic
8	95045990	G	A	G95045990A	NDUFAF6	NM_152416.4(NDUFAF6):c.580+343G>A	noncoding	Benign
8	95046990	A	T	A95046990T	NDUFAF6	NM_152416.4(NDUFAF6):c.581-4A>T	noncoding	Benign
8	95047055	C	T	C95047055T	NDUFAF6	NM_152416.4(NDUFAF6):c.642C>T:p.Val214=	coding	Benign
8	95047076	A	G	A95047076G	NDUFAF6	NM_152416.4(NDUFAF6):c.663A>G:p.Pro221=	coding	Benign/Likely_benign
8	95048547	C	G	C95048547G	NDUFAF6	NM_152416.4(NDUFAF6):c.805C>G:p.His269Asp	coding	Pathogenic
8	95052177	A	G	A95052177G	NDUFAF6	NM_152416.4(NDUFAF6):c.820A>G:p.Arg274Gly	coding	Pathogenic
8	95052195	G	A	G95052195A	NDUFAF6	NM_152416.4(NDUFAF6):c.838G>A:p.Val280Ile	coding	Benign/Likely_benign
8	95052209	A	C	A95052209C	NDUFAF6	NM_152416.4(NDUFAF6):c.852A>C:p.Ala284=	coding	Benign
8	95052327	C	T	C95052327T	NDUFAF6	NM_152416.4(NDUFAF6):c.873+97C>T	noncoding	Benign
8	95245092	A	G	A95245092G	C8orf37	NM_177965.4(C8orf37):c.*2525T>C	noncoding	Benign
8	95245198	A	T	A95245198T	C8orf37	NM_177965.4(C8orf37):c.*2419T>A	noncoding	Benign/Likely_benign
8	95245454	A	G	A95245454G	C8orf37	NM_177965.4(C8orf37):c.*2163T>C	noncoding	Benign
8	95245523	G	A	G95245523A	C8orf37	NM_177965.4(C8orf37):c.*2094C>T	noncoding	Benign/Likely_benign
8	95245806	T	C	T95245806C	C8orf37	NM_177965.4(C8orf37):c.*1811A>G	noncoding	Benign/Likely_benign
8	95245950	A	G	A95245950G	C8orf37	NM_177965.4(C8orf37):c.*1667T>C	noncoding	Benign/Likely_benign
8	95246973	G	C	G95246973C	C8orf37	NM_177965.4(C8orf37):c.*644C>G	noncoding	Benign/Likely_benign
8	95247686	C	T	C95247686T	C8orf37	NM_177965.4(C8orf37):c.555G>A:p.Trp185Ter	coding	Pathogenic
8	95247696	T	C	T95247696C	C8orf37	NM_177965.4(C8orf37):c.545A>G:p.Gln182Arg	coding	Pathogenic
8	95247712	G	A	G95247712A	C8orf37	NM_177965.4(C8orf37):c.529C>T:p.Arg177Trp	coding	Pathogenic/Likely_pathogenic
8	95247744	A	T	A95247744T	C8orf37	NM_177965.4(C8orf37):c.497T>A:p.Leu166Ter	coding	Pathogenic
8	95260472	T	A	T95260472A	C8orf37	NM_177965.4(C8orf37):c.304A>T:p.Lys102Ter	coding	Pathogenic
8	95260534	T	G	T95260534G	C8orf37	NM_177965.4(C8orf37):c.244-2A>C	noncoding	Pathogenic
8	95263776	T	C	T95263776C	C8orf37	NM_177965.4(C8orf37):c.156-2A>G	noncoding	Pathogenic
8	95263785	G	A	G95263785A	C8orf37	NM_177965.4(C8orf37):c.156-11C>T	noncoding	Benign/Likely_benign
8	95269033	A	G	A95269033G	C8orf37	NM_177965.4(C8orf37):c.155+2T>C	noncoding	Pathogenic
8	95269135	G	C	G95269135C	C8orf37	NM_177965.4(C8orf37):c.55C>G:p.Pro19Ala	coding	Benign/Likely_benign
8	96142347	G	A	G96142347A	GDF6	NM_001001557.4(GDF6):c.*2216C>T	noncoding	Benign
8	96142368	G	A	G96142368A	GDF6	NM_001001557.4(GDF6):c.*2195C>T	noncoding	Benign
8	96142393	T	G	T96142393G	GDF6	NM_001001557.4(GDF6):c.*2170A>C	noncoding	Benign
8	96142441	G	A	G96142441A	GDF6	NM_001001557.4(GDF6):c.*2122C>T	noncoding	Benign
8	96142562	T	C	T96142562C	GDF6	NM_001001557.4(GDF6):c.*2001A>G	noncoding	Benign
8	96142585	C	T	C96142585T	GDF6	NM_001001557.4(GDF6):c.*1978G>A	noncoding	Benign
8	96142892	G	A	G96142892A	GDF6	NM_001001557.4(GDF6):c.*1671C>T	noncoding	Benign
8	96143473	C	G	C96143473G	GDF6	NM_001001557.4(GDF6):c.*1090G>C	noncoding	Benign
8	96143479	G	T	G96143479T	GDF6	NM_001001557.4(GDF6):c.*1084C>A	noncoding	Benign
8	96143565	C	G	C96143565G	GDF6	NM_001001557.4(GDF6):c.*998G>C	noncoding	Benign
8	96143721	A	G	A96143721G	GDF6	NM_001001557.4(GDF6):c.*842T>C	noncoding	Benign
8	96143782	C	T	C96143782T	GDF6	NM_001001557.4(GDF6):c.*781G>A	noncoding	Benign
8	96143796	A	G	A96143796G	GDF6	NM_001001557.4(GDF6):c.*767T>C	noncoding	Benign
8	96143852	C	A	C96143852A	GDF6	NM_001001557.4(GDF6):c.*711G>T	noncoding	Benign
8	96143986	T	A	T96143986A	GDF6	NM_001001557.4(GDF6):c.*577A>T	noncoding	Benign
8	96144183	T	C	T96144183C	GDF6	NM_001001557.4(GDF6):c.*380A>G	noncoding	Benign
8	96144391	T	C	T96144391C	GDF6	NM_001001557.4(GDF6):c.*172A>G	noncoding	Benign
8	96144398	G	A	G96144398A	GDF6	NM_001001557.4(GDF6):c.*165C>T	noncoding	Benign
8	96144419	C	T	C96144419T	GDF6	NM_001001557.4(GDF6):c.*144G>A	noncoding	Benign
8	96144535	C	T	C96144535T	GDF6	NM_001001557.4(GDF6):c.*28G>A	noncoding	Benign
8	96144601	A	T	A96144601T	GDF6	NM_001001557.4(GDF6):c.1330T>A:p.Tyr444Asn	coding	Pathogenic
8	96144995	C	G	C96144995G	GDF6	NM_001001557.4(GDF6):c.936G>C:p.Ser312=	coding	Benign/Likely_benign
8	96145061	G	A	G96145061A	GDF6	NM_001001557.4(GDF6):c.870C>T:p.Phe290=	coding	Benign/Likely_benign
8	96145079	G	C	G96145079C	GDF6	NM_001001557.4(GDF6):c.852C>G:p.Ser284=	coding	Benign/Likely_benign
8	96145173	T	A	T96145173A	GDF6	NM_001001557.4(GDF6):c.758A>T:p.Gln253Leu	coding	Pathogenic
8	96145336	C	T	C96145336T	GDF6	NM_001001557.4(GDF6):c.595G>A:p.Ala199Thr	coding	Pathogenic
8	96145564	G	C	G96145564C	GDF6	NM_001001557.4(GDF6):c.407-40C>G	noncoding	Benign
8	96160175	A	G	A96160175G	GDF6	NM_001001557.4(GDF6):c.406+112T>C	noncoding	Benign
8	96160259	G	T	G96160259T	GDF6	NM_001001557.4(GDF6):c.406+28C>A	noncoding	Benign
8	96160337	T	C	T96160337C	GDF6	NM_001001557.4(GDF6):c.356A>G:p.Gln119Arg	coding	Benign/Likely_benign
8	96160438	C	A	C96160438A	GDF6	NM_001001557.4(GDF6):c.255G>T:p.Pro85=	coding	Benign/Likely_benign
8	96160524	C	G	C96160524G	GDF6	NM_001001557.4(GDF6):c.169G>C:p.Asp57His	coding	Pathogenic
8	96160568	C	A	C96160568A	GDF6	NM_001001557.4(GDF6):c.125G>T:p.Gly42Val	coding	Pathogenic
8	96231837	C	T	C96231837T	UQCRB	NM_006294.4(UQCRB):c.195G>A:p.Arg65=	coding	Benign
8	96233140	C	G	C96233140G	UQCRB	NM_006294.4(UQCRB):c.91+16G>C	noncoding	Benign
8	96235241	A	G	A96235241G	UQCRB	NM_006294.4(UQCRB):c.19+271T>C	noncoding	Benign
8	96235543	G	A	G96235543A	UQCRB	NM_006294.4(UQCRB):c.-13C>T	noncoding	Benign
8	96273389	T	C	T96273389C	PTDSS1	NM_014754.3(PTDSS1):c.270T>C:p.Asn90=	coding	Benign
8	96287074	C	G	C96287074G	PTDSS1	NM_014754.3(PTDSS1):c.369C>G:p.Phe123Leu	coding	Benign
8	96287122	C	T	C96287122T	PTDSS1	NM_014754.3(PTDSS1):c.417C>T:p.Tyr139=	coding	Benign
8	96304081	T	C	T96304081C	PTDSS1	NM_014754.3(PTDSS1):c.794T>C:p.Leu265Pro	coding	Pathogenic
8	96304092	C	T	C96304092T	PTDSS1	NM_014754.3(PTDSS1):c.805C>T:p.Pro269Ser	coding	Pathogenic
8	96304113	C	A	C96304113A	PTDSS1	NM_014754.3(PTDSS1):c.826C>A:p.Arg276=	coding	Benign
8	96309607	A	G	A96309607G	PTDSS1	NM_014754.3(PTDSS1):c.1058A>G:p.Gln353Arg	coding	Pathogenic
8	96320309	C	G	C96320309G	PTDSS1	NM_014754.3(PTDSS1):c.1137C>G:p.Thr379=	coding	Benign
8	96330205	T	C	T96330205C	PTDSS1	NM_014754.3(PTDSS1):c.1174-8T>C	noncoding	Benign
8	96331051	C	A	C96331051A	PTDSS1	NM_014754.3(PTDSS1):c.1268C>A:p.Thr423Asn	coding	Benign
8	96331063	A	G	A96331063G	PTDSS1	NM_014754.3(PTDSS1):c.1280A>G:p.Glu427Gly	coding	Benign
8	96785171	T	G	T96785171G	CPQ	NM_016134.4(CPQ):c.274T>G:p.Tyr92Asp	coding	Benign
8	96785310	G	A	G96785310A	CPQ	NM_016134.4(CPQ):c.413G>A:p.Ser138Asn	coding	Benign
8	96785338	T	C	T96785338C	CPQ	NM_016134.4(CPQ):c.433+8T>C	noncoding	Benign
8	96834991	T	C	T96834991C	CPQ	NM_016134.4(CPQ):c.452T>C:p.Leu151Pro	coding	Benign
8	96835149	A	G	A96835149G	CPQ	NM_016134.4(CPQ):c.610A>G:p.Ile204Val	coding	Benign
8	97029426	C	A	C97029426A	CPQ	NM_016134.4(CPQ):c.985C>A:p.Arg329=	coding	Benign
8	97029431	G	A	G97029431A	CPQ	NM_016134.4(CPQ):c.990G>A:p.Leu330=	coding	Benign
8	97644666	G	A	G97644666A	MTDH	NM_178812.4(MTDH):c.160G>A:p.Val54Met	coding	Benign
8	97724594	T	C	T97724594C	MTDH	NM_178812.4(MTDH):c.1679-6T>C	noncoding	Benign
8	97775784	C	T	C97775784T	LAPTM4B	NM_018407.4:c.48C>T	coding	Benign
8	97805403	G	A	G97805403A	LAPTM4B	NM_018407.6(LAPTM4B):c.150G>A:p.Pro50=	coding	Benign
8	97888141	G	C	G97888141C	MATN2	NM_002380.5(MATN2):c.41G>C:p.Gly14Ala	coding	Benign
8	97931218	T	G	T97931218G	MATN2	NM_002380.5(MATN2):c.408T>G:p.Thr136=	coding	Benign
8	98123347	G	A	G98123347A	POP1	NM_001145860.2(POP1):c.10G>A:p.Ala4Thr	coding	Benign
8	98127623	G	A	G98127623A	POP1	NM_001145860.2(POP1):c.171G>A:p.Arg57=	coding	Benign
8	98127673	A	G	A98127673G	POP1	NM_001145860.2(POP1):c.221A>G:p.Gln74Arg	coding	Benign
8	98134581	C	T	C98134581T	POP1	NM_001145860.2(POP1):c.933C>T:p.Ile311=	coding	Benign
8	98136598	T	A	T98136598A	POP1	NM_001145860.2(POP1):c.1128T>A:p.Pro376=	coding	Benign
8	98136961	G	A	G98136961A	POP1	NM_001145860.2(POP1):c.1362+7G>A	noncoding	Benign
8	98140094	A	C	A98140094C	POP1	NM_001145860.2(POP1):c.1379A>C:p.Glu460Ala	coding	Benign
8	98140825	G	T	G98140825T	POP1	NM_001145860.2(POP1):c.1531G>T:p.Asp511Tyr	coding	Pathogenic
8	98140867	C	T	C98140867T	POP1	NM_001145860.2(POP1):c.1573C>T:p.Pro525Ser	coding	Pathogenic
8	98148848	C	T	C98148848T	POP1	NM_001145860.2(POP1):c.1744C>T:p.Pro582Ser	coding	Pathogenic
8	98148852	G	A	G98148852A	POP1	NM_001145860.2(POP1):c.1748G>A:p.Gly583Glu	coding	Pathogenic
8	98148899	T	C	T98148899C	POP1	NM_001145860.2(POP1):c.1795T>C:p.Leu599=	coding	Benign
8	98150595	G	C	G98150595C	POP1	NM_001145860.2(POP1):c.2013G>C:p.Leu671=	coding	Benign
8	98428784	G	A	G98428784A	KCNS2	NM_020697.4(KCNS2):c.805G>A:p.Val269Ile	coding	Benign
8	98428880	C	A	C98428880A	KCNS2	NM_020697.4(KCNS2):c.901C>A:p.Arg301=	coding	Benign
8	98948934	A	C	A98948934C	OSR2	NM_001286841.1(OSR2):c.345A>C:p.Ala115=	coding	Benign
8	99096311	G	A	G99096311A	VPS13B	NM_017890.4(VPS13B):c.292-1G>A	noncoding	Pathogenic
8	99096378	A	G	A99096378G	VPS13B	NM_017890.4(VPS13B):c.358A>G:p.Ile120Val	coding	Benign/Likely_benign
8	99102976	C	T	C99102976T	VPS13B	NM_017890.4(VPS13B):c.436C>T:p.Arg146Ter	coding	Pathogenic/Likely_pathogenic
8	99103087	G	T	G99103087T	VPS13B	NM_152564.5(VPS13B):c.547G>T:p.Glu183Ter	coding	Pathogenic
8	99115792	C	A	C99115792A	VPS13B	NM_152564.5(VPS13B):c.855C>A:p.Tyr285Ter	coding	Pathogenic
8	99121218	C	T	C99121218T	VPS13B	NM_017890.4(VPS13B):c.979C>T:p.Gln327Ter	coding	Pathogenic
8	99121478	T	G	T99121478G	VPS13B	NM_017890.4(VPS13B):c.1206+33T>G	coding	Benign
8	99134644	C	T	C99134644T	VPS13B	NM_017890.4(VPS13B):c.1219C>T:p.Gln407Ter	coding	Pathogenic
8	99134650	G	T	G99134650T	VPS13B	NM_017890.4(VPS13B):c.1225G>T:p.Glu409Ter	coding	Pathogenic
8	99134671	C	T	C99134671T	VPS13B	NM_152564.5(VPS13B):c.1246C>T:p.Gln416Ter	coding	Pathogenic
8	99134704	G	T	G99134704T	VPS13B	NM_152564.5(VPS13B):c.1279G>T:p.Glu427Ter	coding	Pathogenic
8	99134718	T	G	T99134718G	VPS13B	NM_017890.4(VPS13B):c.1293T>G:p.Thr431=	coding	Benign
8	99135048	C	T	C99135048T	VPS13B	NM_017890.4(VPS13B):c.1336C>T:p.Gln446Ter	coding	Pathogenic
8	99135674	C	T	C99135674T	VPS13B	NM_017890.4(VPS13B):c.1504C>T:p.Arg502Ter	coding	Pathogenic/Likely_pathogenic
8	99135706	A	G	A99135706G	VPS13B	NM_017890.4(VPS13B):c.1536A>G:p.Glu512=	coding	Benign/Likely_benign
8	99135733	G	A	G99135733A	VPS13B	NM_017890.4(VPS13B):c.1563G>A:p.Lys521=	coding	Pathogenic
8	99143104	T	C	T99143104C	VPS13B	NM_017890.4(VPS13B):c.1782T>C:p.Ile594=	coding	Benign/Likely_benign
8	99147912	C	T	C99147912T	VPS13B	NM_017890.4(VPS13B):c.1915C>T:p.Arg639Ter	coding	Pathogenic/Likely_pathogenic
8	99156547	A	G	A99156547G	VPS13B	NM_015243.2(VPS13B):c.2014-2A>G	noncoding	Pathogenic
8	99156553	C	G	C99156553G	VPS13B	NM_017890.4(VPS13B):c.2018C>G:p.Ser673Ter	coding	Pathogenic
8	99156609	C	T	C99156609T	VPS13B	NM_017890.4(VPS13B):c.2074C>T:p.Arg692Ter	coding	Pathogenic
8	99156693	C	T	C99156693T	VPS13B	NM_017890.4(VPS13B):c.2158C>T:p.Gln720Ter	coding	Pathogenic/Likely_pathogenic
8	99170035	T	G	T99170035G	VPS13B	NM_017890.4(VPS13B):c.2209-4T>G	noncoding	Benign
8	99170105	G	C	G99170105C	VPS13B	NM_017890.4(VPS13B):c.2275G>C:p.Val759Leu	coding	Benign/Likely_benign
8	99192952	C	T	C99192952T	VPS13B	NM_017890.4(VPS13B):c.2410C>T:p.Gln804Ter	coding	Pathogenic
8	99192993	T	C	T99192993C	VPS13B	NM_017890.4(VPS13B):c.2451T>C:p.His817=	coding	Benign
8	99193027	G	A	G99193027A	VPS13B	NM_017890.4(VPS13B):c.2485G>A:p.Ala829Thr	coding	Benign/Likely_benign
8	99274273	C	A	C99274273A	VPS13B	NM_017890.4(VPS13B):c.2591C>A:p.Ser864Ter	coding	Pathogenic
8	99275190	A	G	A99275190G	VPS13B	NM_017890.4(VPS13B):c.2760A>G:p.Leu920=	coding	Benign/Likely_benign
8	99275218	C	T	C99275218T	VPS13B	NM_017890.4(VPS13B):c.2788C>T:p.Gln930Ter	coding	Pathogenic
8	99384272	G	A	G99384272A	VPS13B	NM_017890.4(VPS13B):c.2889G>A:p.Trp963Ter	coding	Pathogenic/Likely_pathogenic
8	99384294	C	T	C99384294T	VPS13B	NM_017890.4(VPS13B):c.2911C>T:p.Arg971Ter	coding	Pathogenic
8	99384315	C	T	C99384315T	VPS13B	NM_017890.4(VPS13B):c.2932C>T:p.Gln978Ter	coding	Pathogenic
8	99384331	A	T	A99384331T	VPS13B	NM_017890.4(VPS13B):c.2934+14A>T	noncoding	Benign
8	99431657	C	T	C99431657T	VPS13B	NM_017890.4(VPS13B):c.3203C>T:p.Thr1068Ile	coding	Benign/Likely_benign
8	99442390	T	C	T99442390C	VPS13B	NM_017890.4(VPS13B):c.3211-11T>C	noncoding	Benign
8	99442433	A	G	A99442433G	VPS13B	NM_017890.4(VPS13B):c.3243A>G:p.Pro1081=	coding	Benign
8	99442603	C	T	C99442603T	VPS13B	NM_017890.4(VPS13B):c.3413C>T:p.Pro1138Leu	coding	Benign/Likely_benign
8	99442617	C	T	C99442617T	VPS13B	NM_017890.4(VPS13B):c.3427C>T:p.Arg1143Ter	coding	Pathogenic
8	99467566	C	T	C99467566T	VPS13B	NM_017890.4(VPS13B):c.3598C>T:p.Arg1200Ter	coding	Pathogenic
8	99481592	C	T	C99481592T	VPS13B	NM_017890.4(VPS13B):c.3667-7C>T	noncoding	Benign
8	99481676	A	G	A99481676G	VPS13B	NM_017890.4(VPS13B):c.3744A>G:p.Leu1248=	coding	Benign
8	99481683	A	G	A99481683G	VPS13B	NM_017890.4(VPS13B):c.3751A>G:p.Thr1251Ala	coding	Benign/Likely_benign
8	99481769	C	T	C99481769T	VPS13B	NM_017890.4(VPS13B):c.3837C>T:p.Cys1279=	coding	Benign/Likely_benign
8	99501800	G	A	G99501800A	VPS13B	NM_152564.5(VPS13B):c.3984G>A:p.Trp1328Ter	coding	Pathogenic
8	99507809	T	C	T99507809C	VPS13B	NM_017890.4(VPS13B):c.4197T>C:p.Gly1399=	coding	Benign/Likely_benign
8	99507859	G	A	G99507859A	VPS13B	NM_017890.4(VPS13B):c.4247G>A:p.Arg1416Gln	coding	Benign
8	99511275	G	T	G99511275T	VPS13B	NM_017890.4(VPS13B):c.4471G>T:p.Glu1491Ter	coding	Pathogenic
8	99511448	T	A	T99511448A	VPS13B	NM_152564.5(VPS13B):c.4569T>A:p.Tyr1523Ter	coding	Pathogenic
8	99521012	T	C	T99521012C	VPS13B	NM_017890.4(VPS13B):c.4820+2T>C	noncoding	Pathogenic
8	99556436	C	T	C99556436T	VPS13B	NM_017890.4(VPS13B):c.4821-14C>T	noncoding	Benign/Likely_benign
8	99556536	T	A	T99556536A	VPS13B	NM_017890.5(VPS13B):c.4907T>A:p.Ile1636Asn	coding	Pathogenic
8	99556584	C	G	C99556584G	VPS13B	NM_017890.4(VPS13B):c.4955C>G:p.Ser1652Ter	coding	Pathogenic
8	99575719	C	T	C99575719T	VPS13B	NM_017890.4(VPS13B):c.5086C>T:p.Arg1696Ter	coding	Pathogenic
8	99577633	G	T	G99577633T	VPS13B	NM_017890.4(VPS13B):c.5295G>T:p.Glu1765Asp	coding	Pathogenic
8	99642091	C	T	C99642091T	VPS13B	NM_017890.4(VPS13B):c.5576C>T:p.Ser1859Leu	coding	Benign/Likely_benign
8	99642105	C	T	C99642105T	VPS13B	NM_017890.4(VPS13B):c.5590C>T:p.Gln1864Ter	coding	Pathogenic/Likely_pathogenic
8	99642107	G	A	G99642107A	VPS13B	NM_017890.4(VPS13B):c.5592G>A:p.Gln1864=	coding	Benign
8	99642342	C	T	C99642342T	VPS13B	NM_017890.4(VPS13B):c.5827C>T:p.Arg1943Ter	coding	Pathogenic
8	99642435	C	T	C99642435T	VPS13B	NM_017890.4(VPS13B):c.5920C>T:p.Arg1974Ter	coding	Pathogenic
8	99661352	A	T	A99661352T	VPS13B	NM_017890.4(VPS13B):c.5984-2A>T	noncoding	Pathogenic
8	99661400	G	A	G99661400A	VPS13B	NM_017890.4(VPS13B):c.6030G>A:p.Trp2010Ter	coding	Pathogenic
8	99661492	G	C	G99661492C	VPS13B	NM_017890.4(VPS13B):c.6121+1G>C	coding	Pathogenic
8	99699550	G	A	G99699550A	VPS13B	NM_017890.4(VPS13B):c.6147G>A:p.Lys2049=	coding	Benign
8	99699603	T	A	T99699603A	VPS13B	NM_017890.4(VPS13B):c.6200T>A:p.Leu2067Ter	coding	Pathogenic
8	99717219	T	G	T99717219G	VPS13B	NM_017890.4(VPS13B):c.6578T>G:p.Leu2193Arg	coding	Pathogenic
8	99717374	G	A	G99717374A	VPS13B	NM_017890.4(VPS13B):c.6732+1G>A	coding	Pathogenic
8	99717375	T	C	T99717375C	VPS13B	NM_152564.5(VPS13B):c.6657+2T>C	noncoding	Pathogenic
8	99720343	A	G	A99720343G	VPS13B	NM_017890.4(VPS13B):c.6733-2A>G	noncoding	Pathogenic
8	99720414	G	T	G99720414T	VPS13B	NM_017890.4(VPS13B):c.6802G>T:p.Glu2268Ter	coding	Pathogenic
8	99720435	C	T	C99720435T	VPS13B	NM_017890.4(VPS13B):c.6823C>T:p.Gln2275Ter	coding	Pathogenic
8	99720543	C	T	C99720543T	VPS13B	NM_152564.5(VPS13B):c.6856C>T:p.Gln2286Ter	coding	Pathogenic
8	99720553	G	T	G99720553T	VPS13B	NM_017890.4(VPS13B):c.6940+1G>T	coding	Pathogenic
8	99720960	A	G	A99720960G	VPS13B	NM_017890.4(VPS13B):c.7038A>G:p.Val2346=	coding	Benign
8	99720973	C	T	C99720973T	VPS13B	NM_017890.4(VPS13B):c.7051C>T:p.Arg2351Ter	coding	Pathogenic
8	99720974	G	A	G99720974A	VPS13B	NM_017890.4(VPS13B):c.7052G>A:p.Arg2351Gln	coding	Benign/Likely_benign
8	99766801	G	T	G99766801T	VPS13B	NM_017890.4(VPS13B):c.7153G>T:p.Glu2385Ter	coding	Pathogenic
8	99766875	G	A	G99766875A	VPS13B	NM_017890.4(VPS13B):c.7227G>A:p.Pro2409=	coding	Benign/Likely_benign
8	99766972	T	C	T99766972C	VPS13B	NM_017890.4(VPS13B):c.7322+2T>C	noncoding	Pathogenic/Likely_pathogenic
8	99776865	T	C	T99776865C	VPS13B	NM_017890.4(VPS13B):c.7413T>C:p.Phe2471=	coding	Benign/Likely_benign
8	99778699	C	T	C99778699T	VPS13B	NM_017890.4(VPS13B):c.7522C>T:p.Gln2508Ter	coding	Pathogenic
8	99778780	C	T	C99778780T	VPS13B	NM_017890.4(VPS13B):c.7603C>T:p.Arg2535Ter	coding	Pathogenic
8	99778828	C	T	C99778828T	VPS13B	NM_152564.5(VPS13B):c.7576C>T:p.Gln2526Ter	coding	Pathogenic
8	99778928	T	C	T99778928C	VPS13B	NM_017890.4(VPS13B):c.7751T>C:p.Val2584Ala	coding	Benign
8	99778947	C	T	C99778947T	VPS13B	NM_017890.4(VPS13B):c.7770C>T:p.Cys2590=	coding	Benign
8	99784474	C	T	C99784474T	VPS13B	NM_017890.4(VPS13B):c.8014C>T:p.Gln2672Ter	coding	Pathogenic
8	99809431	T	C	T99809431C	VPS13B	NM_017890.4(VPS13B):c.8073T>C:p.Ser2691=	coding	Benign/Likely_benign
8	99809443	C	T	C99809443T	VPS13B	NM_017890.4(VPS13B):c.8085C>T:p.Ala2695=	coding	Benign/Likely_benign
8	99809470	C	G	C99809470G	VPS13B	NM_017890.4(VPS13B):c.8112C>G:p.Tyr2704Ter	coding	Pathogenic
8	99817613	A	G	A99817613G	VPS13B	NM_017890.4(VPS13B):c.8246A>G:p.Tyr2749Cys	coding	Benign/Likely_benign
8	99817621	C	T	C99817621T	VPS13B	NM_017890.4(VPS13B):c.8254C>T:p.Gln2752Ter	coding	Pathogenic
8	99817659	C	A	C99817659A	VPS13B	NM_017890.4(VPS13B):c.8292C>A:p.Cys2764Ter	coding	Pathogenic
8	99817685	C	T	C99817685T	VPS13B	NM_017890.4(VPS13B):c.8318C>T:p.Ser2773Leu	coding	Pathogenic
8	99818529	C	T	C99818529T	VPS13B	NM_017890.4(VPS13B):c.8515C>T:p.Arg2839Ter	coding	Pathogenic/Likely_pathogenic
8	99818712	G	T	G99818712T	VPS13B	NM_017890.4(VPS13B):c.8521-1G>T	noncoding	Pathogenic
8	99819403	A	G	A99819403G	VPS13B	NM_017890.4(VPS13B):c.8697-9A>G	noncoding	Pathogenic
8	99819451	A	G	A99819451G	VPS13B	NM_017890.4(VPS13B):c.8736A>G:p.Ser2912=	coding	Benign/Likely_benign
8	99819955	C	T	C99819955T	VPS13B	NM_017890.4(VPS13B):c.8902C>T:p.Arg2968Ter	coding	Pathogenic
8	99819998	T	A	T99819998A	VPS13B	NM_017890.4(VPS13B):c.8945T>A:p.Leu2982Ter	coding	Pathogenic/Likely_pathogenic
8	99820043	G	A	G99820043A	VPS13B	NM_017890.4(VPS13B):c.8990G>A:p.Trp2997Ter	coding	Pathogenic
8	99821292	A	G	A99821292G	VPS13B	NM_017890.4(VPS13B):c.9070-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	99823979	G	C	G99823979C	VPS13B	NM_017890.4(VPS13B):c.9405+1G>C	coding	Pathogenic/Likely_pathogenic
8	99823987	A	G	A99823987G	VPS13B	NM_017890.4(VPS13B):c.9405+9A>G	noncoding	Benign/Likely_benign
8	99823988	T	A	T99823988A	VPS13B	NM_017890.4(VPS13B):c.9405+10T>A	noncoding	Benign
8	99832368	G	C	G99832368C	VPS13B	NM_017890.4(VPS13B):c.9406-1G>C	noncoding	Pathogenic
8	99832387	A	G	A99832387G	VPS13B	NM_017890.4(VPS13B):c.9424A>G:p.Ser3142Gly	coding	Benign
8	99832454	G	A	G99832454A	VPS13B	NM_017890.4(VPS13B):c.9491G>A:p.Trp3164Ter	coding	Pathogenic
8	99832510	C	T	C99832510T	VPS13B	NM_017890.4(VPS13B):c.9547C>T:p.Gln3183Ter	coding	Pathogenic/Likely_pathogenic
8	99832530	T	C	T99832530C	VPS13B	NM_017890.4(VPS13B):c.9567T>C:p.Ser3189=	coding	Benign
8	99832630	C	T	C99832630T	VPS13B	NM_017890.4(VPS13B):c.9667C>T:p.Arg3223Trp	coding	Benign/Likely_benign
8	99835216	C	T	C99835216T	VPS13B	NM_017890.4(VPS13B):c.9709C>T:p.Gln3237Ter	coding	Pathogenic
8	99835267	C	T	C99835267T	VPS13B	NM_017890.4(VPS13B):c.9760C>T:p.Arg3254Ter	coding	Pathogenic/Likely_pathogenic
8	99835702	G	A	G99835702A	VPS13B	NM_017890.4(VPS13B):c.9981G>A:p.Trp3327Ter	coding	Pathogenic
8	99848776	G	A	G99848776A	VPS13B	NM_017890.4(VPS13B):c.10018G>A:p.Val3340Ile	coding	Benign
8	99848882	C	T	C99848882T	VPS13B	NM_017890.4(VPS13B):c.10124C>T:p.Thr3375Ile	coding	Benign/Likely_benign
8	99848885	A	T	A99848885T	VPS13B	NM_017890.4(VPS13B):c.10127A>T:p.Asn3376Ile	coding	Benign/Likely_benign
8	99848918	G	A	G99848918A	VPS13B	NM_017890.4(VPS13B):c.10136+24G>A	noncoding	Benign
8	99853454	G	T	G99853454T	VPS13B	NM_017890.4(VPS13B):c.10140G>T:p.Ala3380=	coding	Benign
8	99853476	A	T	A99853476T	VPS13B	NM_152564.5(VPS13B):c.10087A>T:p.Lys3363Ter	coding	Pathogenic
8	99853544	G	A	G99853544A	VPS13B	NM_017890.4(VPS13B):c.10230G>A:p.Glu3410=	coding	Benign
8	99853608	G	A	G99853608A	VPS13B	NM_017890.4(VPS13B):c.10294G>A:p.Gly3432Arg	coding	Benign/Likely_benign
8	99853624	C	T	C99853624T	VPS13B	NM_017890.4(VPS13B):c.10310C>T:p.Ala3437Val	coding	Benign/Likely_benign
8	99854124	A	T	A99854124T	VPS13B	NM_017890.4(VPS13B):c.10810A>T:p.Lys3604Ter	coding	Pathogenic
8	99854213	C	T	C99854213T	VPS13B	NM_017890.4(VPS13B):c.10899C>T:p.His3633=	coding	Benign/Likely_benign
8	99859307	G	A	G99859307A	VPS13B	NM_017890.4(VPS13B):c.10946G>A:p.Trp3649Ter	coding	Pathogenic/Likely_pathogenic
8	99859482	T	C	T99859482C	VPS13B	NM_017890.4(VPS13B):c.11119+2T>C	noncoding	Pathogenic
8	99859493	G	A	G99859493A	VPS13B	NM_017890.4(VPS13B):c.11119+13G>A	noncoding	Benign
8	99859513	C	A	C99859513A	VPS13B	NM_152564.4(VPS13B):c.11044+33C>A	noncoding	Benign
8	99861862	C	T	C99861862T	VPS13B	NM_017890.4(VPS13B):c.11206C>T:p.Gln3736Ter	coding	Pathogenic
8	99861901	G	T	G99861901T	VPS13B	NM_017890.4(VPS13B):c.11245G>T:p.Glu3749Ter	coding	Pathogenic
8	99861912	A	G	A99861912G	VPS13B	NM_017890.4(VPS13B):c.11256A>G:p.Arg3752=	coding	Benign/Likely_benign
8	99868312	C	T	C99868312T	VPS13B	NM_017890.4(VPS13B):c.11314C>T:p.Gln3772Ter	coding	Pathogenic/Likely_pathogenic
8	99868451	C	G	C99868451G	VPS13B	NM_017890.4(VPS13B):c.11453C>G:p.Ser3818Ter	coding	Pathogenic
8	99868473	G	A	G99868473A	VPS13B	NM_017890.4(VPS13B):c.11467+8G>A	noncoding	Benign
8	99870783	A	C	A99870783C	VPS13B	NM_017890.4(VPS13B):c.11468-2A>C	noncoding	Pathogenic
8	99871446	A	G	A99871446G	VPS13B	NM_017890.4(VPS13B):c.11571-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	99871517	A	G	A99871517G	VPS13B	NM_017890.4(VPS13B):c.11640A>G:p.Ser3880=	coding	Benign
8	99871571	G	C	G99871571C	VPS13B	NM_017890.4(VPS13B):c.11694G>C:p.Val3898=	coding	Benign/Likely_benign
8	99875459	C	T	C99875459T	VPS13B	NM_017890.4(VPS13B):c.11862C>T:p.Asn3954=	coding	Benign/Likely_benign
8	99875556	C	G	C99875556G	VPS13B	NM_017890.4(VPS13B):c.11959C>G:p.Pro3987Ala	coding	Benign/Likely_benign
8	99876321	G	C	G99876321C	VPS13B	NM_152564.5(VPS13B):c.*655G>C	noncoding	Benign
8	99877205	A	G	A99877205G	VPS13B	NM_152564.5(VPS13B):c.*1539A>G	noncoding	Benign
8	99877449	C	T	C99877449T	VPS13B	NM_017890.4(VPS13B):c.*1783C>T	noncoding	Benign
8	99962441	A	G	A99962441G	RGS22	NM_015668.5(RGS22):c.3793T>C:p.Ter1265Arg	coding	Benign
8	99962943	T	C	T99962943C	RGS22	NM_015668.5(RGS22):c.3651A>G:p.Leu1217=	coding	Benign
8	100064024	A	G	A100064024G	RGS22	NM_015668.5(RGS22):c.744T>C:p.Asp248=	coding	Benign
8	100093501	A	G	A100093501G	RGS22	NM_015668.5(RGS22):c.63T>C:p.Ser21=	coding	Benign
8	100162282	T	G	T100162282G	SPAG1	NM_003114.4(SPAG1):c.2T>G:p.Met1Arg	coding	Pathogenic
8	100177826	C	A	C100177826A	SPAG1	NM_172218.2(SPAG1):c.311C>A:p.Ser104Ter	coding	Pathogenic
8	100177834	A	T	A100177834T	SPAG1	NM_172218.2(SPAG1):c.319A>T:p.Lys107Ter	coding	Pathogenic
8	100183422	C	T	C100183422T	SPAG1	NM_172218.2(SPAG1):c.474C>T:p.Tyr158=	coding	Benign
8	100184628	G	C	G100184628C	SPAG1	NM_172218.2(SPAG1):c.596G>C:p.Gly199Ala	coding	Benign
8	100184701	A	G	A100184701G	SPAG1	NM_172218.2(SPAG1):c.669A>G:p.Gly223=	coding	Benign
8	100184711	G	T	G100184711T	SPAG1	NM_003114.4(SPAG1):c.679G>T:p.Glu227Ter	coding	Pathogenic
8	100187243	C	T	C100187243T	SPAG1	NM_172218.2(SPAG1):c.825C>T:p.Asn275=	coding	Benign
8	100191434	C	T	C100191434T	SPAG1	NM_172218.2(SPAG1):c.877C>T:p.Arg293Trp	coding	Benign
8	100191509	T	C	T100191509C	SPAG1	NM_172218.2(SPAG1):c.939+13T>C	noncoding	Benign
8	100194129	T	A	T100194129A	SPAG1	NM_172218.2(SPAG1):c.957T>A:p.Val319=	coding	Benign
8	100194163	G	A	G100194163A	SPAG1	NM_172218.2(SPAG1):c.991G>A:p.Glu331Lys	coding	Benign
8	100194268	A	T	A100194268T	SPAG1	NM_003114.5(SPAG1):c.1096A>T:p.Lys366Ter	coding	Pathogenic
8	100213070	C	T	C100213070T	SPAG1	NM_172218.2(SPAG1):c.1097-20C>T	noncoding	Benign
8	100213096	C	T	C100213096T	SPAG1	NM_172218.2(SPAG1):c.1103C>T:p.Ala368Val	coding	Benign
8	100213149	C	T	C100213149T	SPAG1	NM_172218.2(SPAG1):c.1156C>T:p.Gln386Ter	coding	Pathogenic
8	100213331	C	G	C100213331G	SPAG1	NM_172218.2(SPAG1):c.1338C>G:p.Ala446=	coding	Benign
8	100213407	A	G	A100213407G	SPAG1	NM_172218.2(SPAG1):c.1414A>G:p.Ile472Val	coding	Benign
8	100220270	C	G	C100220270G	SPAG1	NM_172218.2(SPAG1):c.1536-9C>G	noncoding	Benign
8	100220285	G	A	G100220285A	SPAG1	NM_172218.2(SPAG1):c.1542G>A:p.Leu514=	coding	Benign
8	100220327	G	A	G100220327A	SPAG1	NM_172218.2(SPAG1):c.1584G>A:p.Ala528=	coding	Benign
8	100220329	T	C	T100220329C	SPAG1	NM_172218.2(SPAG1):c.1586T>C:p.Met529Thr	coding	Benign
8	100220406	C	T	C100220406T	SPAG1	NM_172218.2(SPAG1):c.1663C>T:p.Gln555Ter	coding	Pathogenic
8	100225243	C	T	C100225243T	SPAG1	NM_172218.2(SPAG1):c.1759C>T:p.Pro587Ser	coding	Benign
8	100233436	C	T	C100233436T	SPAG1	NM_172218.2(SPAG1):c.2014C>T:p.Gln672Ter	coding	Pathogenic/Likely_pathogenic
8	100240452	T	C	T100240452C	SPAG1	NM_172218.2(SPAG1):c.2330T>C:p.Met777Thr	coding	Benign
8	100240956	G	A	G100240956A	SPAG1	NM_172218.2(SPAG1):c.2715G>A:p.Ser905=	coding	Benign
8	100287584	C	T	C100287584T	RNF19A	NM_183419.4(RNF19A):c.591G>A:p.Leu197=	coding	Benign
8	100705064	C	T	C100705064T	PABPC1	NM_002568.4(PABPC1):c.1688-8G>A	noncoding	Benign
8	100709179	T	C	T100709179C	PABPC1	NM_002568.4(PABPC1):c.1290A>G:p.Gln430=	coding	Benign
8	100717892	G	A	G100717892A	PABPC1	NM_002568.4(PABPC1):c.388-4C>T	noncoding	Benign
8	101492746	C	G	C101492746G	GRHL2	NM_024915.4(GRHL2):c.-24C>G	noncoding	Benign
8	101493333	G	T	G101493333T	GRHL2	NM_024915.4(GRHL2):c.20+544G>T	noncoding	Pathogenic/Likely_pathogenic
8	101543246	A	G	A101543246G	GRHL2	NM_024915.4(GRHL2):c.26A>G:p.Lys9Arg	coding	Benign
8	101558785	C	T	C101558785T	GRHL2	NM_024915.4(GRHL2):c.651C>T:p.Ser217=	coding	Benign
8	101577497	G	A	G101577497A	GRHL2	NM_024915.4(GRHL2):c.981G>A:p.Ala327=	coding	Benign
8	101599160	C	T	C101599160T	GRHL2	NM_024915.4(GRHL2):c.1098+9C>T	noncoding	Benign/Likely_benign
8	101619632	T	C	T101619632C	GRHL2	NM_024915.4(GRHL2):c.1192T>C:p.Tyr398His	coding	Pathogenic
8	101619683	G	A	G101619683A	GRHL2	NM_024915.4(GRHL2):c.1243G>A:p.Val415Ile	coding	Benign
8	101631636	G	A	G101631636A	GRHL2	NM_024915.4(GRHL2):c.1258-1G>A	noncoding	Pathogenic
8	101631750	C	T	C101631750T	GRHL2	NM_024915.4(GRHL2):c.1345+26C>T	noncoding	Benign
8	101632325	T	A	T101632325A	GRHL2	NM_024915.4(GRHL2):c.1445T>A:p.Ile482Lys	coding	Pathogenic
8	101636911	G	A	G101636911A	GRHL2	NM_024915.4(GRHL2):c.1500G>A:p.Thr500=	coding	Benign/Likely_benign
8	101636940	A	G	A101636940G	GRHL2	NM_024915.4(GRHL2):c.1517+12A>G	noncoding	Benign
8	101644185	A	G	A101644185G	GRHL2	NM_024915.4(GRHL2):c.1572A>G:p.Pro524=	coding	Benign
8	101666570	C	T	C101666570T	GRHL2	NM_024915.4(GRHL2):c.1764-19C>T	noncoding	Benign
8	101666631	G	A	G101666631A	GRHL2	NM_024915.4(GRHL2):c.1806G>A:p.Ser602=	coding	Benign
8	101666631	G	C	G101666631C	GRHL2	NM_024915.4(GRHL2):c.1806G>C:p.Ser602=	coding	Benign
8	101666709	G	A	G101666709A	GRHL2	NM_024915.4(GRHL2):c.*6G>A	noncoding	Benign
8	102204540	C	T	C102204540T	RRM2B	NM_001172477.1(RRM2B):c.*3593G>A	noncoding	Benign
8	102204578	A	G	A102204578G	RRM2B	NM_001172477.1(RRM2B):c.*3555T>C	noncoding	Benign
8	102204606	C	T	C102204606T	RRM2B	NM_001172477.1(RRM2B):c.*3527G>A	noncoding	Benign
8	102204644	T	C	T102204644C	RRM2B	NM_001172477.1(RRM2B):c.*3489A>G	noncoding	Benign/Likely_benign
8	102204670	G	A	G102204670A	RRM2B	NM_001172477.1(RRM2B):c.*3463C>T	noncoding	Benign
8	102204738	G	C	G102204738C	RRM2B	NM_001172477.1(RRM2B):c.*3395C>G	noncoding	Benign
8	102205254	T	C	T102205254C	RRM2B	NM_001172477.1(RRM2B):c.*2879A>G	noncoding	Benign
8	102205458	T	C	T102205458C	RRM2B	NM_001172477.1(RRM2B):c.*2675A>G	noncoding	Benign
8	102205467	A	G	A102205467G	RRM2B	NM_001172477.1(RRM2B):c.*2666T>C	noncoding	Benign
8	102205897	T	A	T102205897A	RRM2B	NM_001172477.1(RRM2B):c.*2236A>T	noncoding	Benign/Likely_benign
8	102205997	C	T	C102205997T	RRM2B	NM_001172477.1(RRM2B):c.*2136G>A	noncoding	Benign
8	102206036	A	T	A102206036T	RRM2B	NM_001172477.1(RRM2B):c.*2097T>A	noncoding	Benign
8	102206098	T	C	T102206098C	RRM2B	NM_001172477.1(RRM2B):c.*2035A>G	noncoding	Benign
8	102206180	T	C	T102206180C	RRM2B	NM_001172477.1(RRM2B):c.*1953A>G	noncoding	Benign
8	102206266	G	A	G102206266A	RRM2B	NM_015713.5(RRM2B):c.*1867C>T	noncoding	Benign/Likely_benign
8	102206460	A	C	A102206460C	RRM2B	NM_001172477.1(RRM2B):c.*1673T>G	noncoding	Benign
8	102206532	T	C	T102206532C	RRM2B	NM_001172477.1(RRM2B):c.*1601A>G	noncoding	Benign
8	102206537	A	G	A102206537G	RRM2B	NM_001172477.1(RRM2B):c.*1596T>C	noncoding	Benign/Likely_benign
8	102206782	A	G	A102206782G	RRM2B	NM_001172477.1(RRM2B):c.*1351T>C	noncoding	Benign/Likely_benign
8	102206856	T	A	T102206856A	RRM2B	NM_001172477.1(RRM2B):c.*1277A>T	noncoding	Benign
8	102207012	A	G	A102207012G	RRM2B	NM_001172477.1(RRM2B):c.*1121T>C	noncoding	Benign
8	102207135	T	C	T102207135C	RRM2B	NM_001172477.1(RRM2B):c.*998A>G	noncoding	Benign
8	102207267	A	C	A102207267C	RRM2B	NM_001172477.1(RRM2B):c.*866T>G	noncoding	Benign
8	102207401	T	C	T102207401C	RRM2B	NM_001172477.1(RRM2B):c.*732A>G	noncoding	Benign
8	102207943	A	G	A102207943G	RRM2B	NM_015713.5(RRM2B):c.*190T>C	noncoding	Benign/Likely_benign
8	102208143	G	C	G102208143C	RRM2B	NM_001172477.1(RRM2B):c.1262C>G:p.Ala421Gly	coding	Pathogenic
8	102208210	G	A	G102208210A	RRM2B	NM_001172477.1(RRM2B):c.1195C>T:p.Arg399Ter	coding	Pathogenic
8	102208237	C	A	C102208237A	RRM2B	NM_001172477.1(RRM2B):c.1168G>T:p.Glu390Ter	coding	Pathogenic
8	102208240	A	C	A102208240C	RRM2B	NM_001172477.1(RRM2B):c.1165T>G:p.Leu389Val	coding	Pathogenic
8	102212829	G	A	G102212829A	RRM2B	NM_001172477.1(RRM2B):c.1066C>T:p.Gln356Ter	coding	Pathogenic
8	102212833	C	G	C102212833G	RRM2B	NM_001172477.1(RRM2B):c.1062G>C:p.Met354Ile	coding	Pathogenic
8	102212897	G	T	G102212897T	RRM2B	NM_001172477.1(RRM2B):c.1006-8C>A	noncoding	Benign
8	102214136	C	A	C102214136A	RRM2B	NM_001172477.1(RRM2B):c.923G>T:p.Cys308Phe	coding	Pathogenic
8	102214157	C	A	C102214157A	RRM2B	NM_001172477.1(RRM2B):c.902G>T:p.Gly301Val	coding	Pathogenic
8	102218827	A	C	A102218827C	RRM2B	NM_001172477.1(RRM2B):c.887T>G:p.Ile296Ser	coding	Pathogenic/Likely_pathogenic
8	102218866	C	T	C102218866T	RRM2B	NM_001172477.1(RRM2B):c.848G>A:p.Arg283Lys	coding	Pathogenic
8	102218899	C	T	C102218899T	RRM2B	NM_001172477.1(RRM2B):c.815G>A:p.Gly272Glu	coding	Pathogenic
8	102218915	C	T	C102218915T	RRM2B	NM_001172477.1(RRM2B):c.799G>A:p.Gly267Arg	coding	Pathogenic
8	102218917	T	C	T102218917C	RRM2B	NM_001172477.1(RRM2B):c.797A>G:p.Glu266Gly	coding	Pathogenic
8	102218918	C	T	C102218918T	RRM2B	NM_001172477.1(RRM2B):c.796G>A:p.Glu266Lys	coding	Pathogenic
8	102218942	T	C	T102218942C	RRM2B	NM_001172477.1(RRM2B):c.772A>G:p.Arg258Gly	coding	Pathogenic
8	102219103	C	A	C102219103A	RRM2B	NM_001172477.1(RRM2B):c.767-156G>T	noncoding	Benign
8	102224076	G	A	G102224076A	RRM2B	NM_001172477.1(RRM2B):c.736C>T:p.Arg246Ter	coding	Pathogenic
8	102224949	C	T	C102224949T	RRM2B	NM_001172477.1(RRM2B):c.607G>A:p.Glu203Lys	coding	Pathogenic
8	102224972	A	G	A102224972G	RRM2B	NM_001172477.1(RRM2B):c.584T>C:p.Phe195Ser	coding	Pathogenic
8	102224978	C	T	C102224978T	RRM2B	NM_001172477.1(RRM2B):c.578G>A:p.Arg193His	coding	Pathogenic
8	102225011	C	T	C102225011T	RRM2B	NM_001172477.1(RRM2B):c.545G>A:p.Arg182His	coding	Pathogenic
8	102225012	G	A	G102225012A	RRM2B	NM_001172477.1(RRM2B):c.544C>T:p.Arg182Cys	coding	Pathogenic
8	102225020	T	C	T102225020C	RRM2B	NM_001172477.1(RRM2B):c.538-2A>G	noncoding	Pathogenic
8	102225020	T	G	T102225020G	RRM2B	NM_001172477.1(RRM2B):c.538-2A>C	noncoding	Pathogenic
8	102225055	T	C	T102225055C	RRM2B	NM_001172477.1(RRM2B):c.538-37A>G	noncoding	Benign
8	102226031	C	T	C102226031T	RRM2B	NM_001172477.1(RRM2B):c.424G>A:p.Asp142Asn	coding	Pathogenic
8	102226032	G	A	G102226032A	RRM2B	NM_001172477.1(RRM2B):c.423C>T:p.Val141=	coding	Benign
8	102226036	T	C	T102226036C	RRM2B	NM_001172477.1(RRM2B):c.421-2A>G	noncoding	Pathogenic
8	102231993	C	T	C102231993T	RRM2B	NM_001172477.1(RRM2B):c.420+156G>A	noncoding	Benign
8	102232163	A	G	A102232163G	RRM2B	NM_001172477.1(RRM2B):c.406T>C:p.Trp136Arg	coding	Pathogenic
8	102232231	C	G	C102232231G	RRM2B	NM_001172477.1(RRM2B):c.338G>C:p.Arg113Pro	coding	Pathogenic
8	102232231	C	T	C102232231T	RRM2B	NM_001172477.1(RRM2B):c.338G>A:p.Arg113Gln	coding	Pathogenic
8	102232232	G	A	G102232232A	RRM2B	NM_001172477.1(RRM2B):c.337C>T:p.Arg113Trp	coding	Pathogenic
8	102238562	G	C	G102238562C	RRM2B	NM_001172477.1(RRM2B):c.261C>G:p.Ala87=	coding	Benign
8	102238731	C	G	C102238731G	RRM2B	NM_001172477.1(RRM2B):c.92G>C:p.Arg31Pro	coding	Benign
8	102238763	C	T	C102238763T	RRM2B	NM_001172477.1(RRM2B):c.60G>A:p.Leu20=	coding	Benign
8	102238806	A	C	A102238806C	RRM2B	NM_001172477.1(RRM2B):c.17T>G:p.Leu6Arg	coding	Benign
8	102238827	C	T	C102238827T	RRM2B	NM_001172477.1(RRM2B):c.-5G>A	coding	Pathogenic
8	102238962	G	T	G102238962T	RRM2B	NM_015713.4(RRM2B):c.-88C>A	noncoding	Benign
8	102238977	C	T	C102238977T	RRM2B	NM_015713.4(RRM2B):c.-103G>A	noncoding	Benign
8	102239027	C	A	C102239027A	RRM2B	NM_015713.4(RRM2B):c.-153G>T	noncoding	Benign/Likely_benign
8	102239031	C	T	C102239031T	RRM2B	NM_015713.4(RRM2B):c.-157G>A	noncoding	Benign
8	102295526	C	T	C102295526T	UBR5	NM_015902.6(UBR5):c.3819G>A:p.Glu1273=	coding	Benign
8	102346405	A	G	A102346405G	UBR5	NM_015902.6(UBR5):c.577-10T>C	noncoding	Benign
8	102560773	C	G	C102560773G	ODF1	NM_024410.4(ODF1):c.642C>G:p.Pro214=	coding	Benign
8	102839749	C	T	C102839749T	AZIN1	NM_148174.4(AZIN1):c.177G>A:p.Val59=	coding	Benign
8	103318758	C	T	C103318758T	FZD6	NM_003506.4(FZD6):c.346C>T:p.Arg116Ter	coding	Pathogenic
8	103325320	G	A	G103325320A	FZD6	NM_003506.4(FZD6):c.1214G>A:p.Arg405Gln	coding	Benign
8	103325418	G	A	G103325418A	FZD6	NM_003506.4(FZD6):c.1312G>A:p.Glu438Lys	coding	Pathogenic
8	103328400	C	T	C103328400T	FZD6	NM_003506.4(FZD6):c.1525C>T:p.Arg509Ter	coding	Pathogenic
8	103328406	C	T	C103328406T	FZD6	NM_003506.4(FZD6):c.1531C>T:p.Arg511Cys	coding	Pathogenic
8	103329863	G	T	G103329863T	FZD6	NM_003506.4(FZD6):c.1750G>T:p.Glu584Ter	coding	Pathogenic
8	103371787	A	C	A103371787C	CTHRC1	NM_138455.4(CTHRC1):c.131A>C:p.Gln44Pro	coding	Pathogenic
8	103400460	T	C	T103400460C	SLC25A32	NM_030780.5(SLC25A32):c.899A>G:p.Tyr300Cys	coding	Benign
8	103403276	C	T	C103403276T	GLYB;SLC25A32	NM_030780.5(SLC25A32):c.440G>A:p.Arg147His	coding	Pathogenic
8	103403291	C	T	C103403291T	GLYB;SLC25A32	NM_030780.5(SLC25A32):c.425G>A:p.Trp142Ter	coding	Pathogenic
8	103415200	C	A	C103415200A	DCAF13	NM_015420.6:c.210C>A	coding	Benign
8	103415316	C	G	C103415316G	DCAF13	NM_015420.6:c.326C>G	coding	Benign
8	103500928	C	A	C103500928A	RIMS2	NM_001100117.3(RIMS2):c.42C>A:p.Ile14=	coding	Benign
8	103766399	C	T	C103766399T	RIMS2	NM_001100117.3(RIMS2):c.560C>T:p.Thr187Ile	coding	Benign
8	103885391	C	T	C103885391T	RIMS2	NM_001100117.3(RIMS2):c.792C>T:p.Thr264=	coding	Benign
8	103885459	A	T	A103885459T	RIMS2	NM_001100117.3(RIMS2):c.860A>T:p.Asp287Val	coding	Benign
8	103885700	G	A	G103885700A	RIMS2	NM_001100117.3(RIMS2):c.1101G>A:p.Arg367=	coding	Benign
8	103886062	C	G	C103886062G	RIMS2	NM_001100117.3(RIMS2):c.1463C>G:p.Ser488Ter	coding	Pathogenic
8	103912089	C	T	C103912089T	RIMS2	NM_001100117.3(RIMS2):c.1729C>T:p.Arg577Cys	coding	Benign
8	103916546	G	T	G103916546T	RIMS2	NM_001100117.3(RIMS2):c.2036+9G>T	noncoding	Benign
8	103918435	T	C	T103918435C	RIMS2	NM_001100117.3(RIMS2):c.2037-6T>C	noncoding	Benign
8	103921682	C	T	C103921682T	RIMS2	NM_001100117.3(RIMS2):c.2094C>T:p.Ser698=	coding	Benign
8	103931324	A	C	A103931324C	RIMS2	NM_001100117.3(RIMS2):c.2306A>C:p.Asp769Ala	coding	Benign
8	103942884	C	T	C103942884T	RIMS2	NM_001100117.3(RIMS2):c.2659C>T:p.Arg887Ter	coding	Pathogenic
8	103975480	G	A	G103975480A	RIMS2	NM_001100117.3(RIMS2):c.2901G>A:p.Trp967Ter	coding	Pathogenic
8	103975483	A	T	A103975483T	RIMS2	NM_001100117.3(RIMS2):c.2904A>T:p.Ser968=	coding	Benign
8	104248814	G	A	G104248814A	RIMS2	NM_001100117.3(RIMS2):c.3589+1G>A	coding	Pathogenic
8	104251031	T	C	T104251031C	RIMS2	NM_001100117.3(RIMS2):c.3699T>C:p.Tyr1233=	coding	Benign
8	104251642	C	A	C104251642A	RIMS2	NM_001100117.3(RIMS2):c.3872C>A:p.Ser1291Tyr	coding	Benign
8	104379514	A	T	A104379514T	DPYS	NM_001385.3(DPYS):c.*344T>A	noncoding	Benign
8	104379710	G	A	G104379710A	DPYS	NM_001385.3(DPYS):c.*148C>T	noncoding	Benign
8	104379793	A	G	A104379793G	DPYS	NM_001385.3(DPYS):c.*65T>C	noncoding	Benign
8	104392804	G	A	G104392804A	DPYS	NM_001385.3(DPYS):c.1423C>T:p.Arg475Ter	coding	Pathogenic
8	104392834	G	A	G104392834A	DPYS	NM_001385.3(DPYS):c.1393C>T:p.Arg465Ter	coding	Pathogenic
8	104392877	G	A	G104392877A	DPYS	NM_001385.3(DPYS):c.1350C>T:p.Ala450=	coding	Benign
8	104392924	C	T	C104392924T	DPYS	NM_001385.3(DPYS):c.1303G>A:p.Gly435Arg	coding	Pathogenic
8	104424247	C	A	C104424247A	DPYS	NM_001385.3(DPYS):c.1235G>T:p.Arg412Met	coding	Pathogenic
8	104427971	G	A	G104427971A	DPYS	NM_001385.3(DPYS):c.1092+9C>T	noncoding	Benign
8	104427994	A	G	A104427994G	DPYS	NM_001385.3(DPYS):c.1078T>C:p.Trp360Arg	coding	Pathogenic
8	104428010	A	G	A104428010G	DPYS	NM_001385.3(DPYS):c.1062T>C:p.Asp354=	coding	Benign/Likely_benign
8	104428043	G	C	G104428043C	DPYS	NM_001385.3(DPYS):c.1029C>G:p.Thr343=	coding	Benign
8	104428071	T	C	T104428071C	DPYS	NM_001385.3(DPYS):c.1001A>G:p.Gln334Arg	coding	Pathogenic
8	104444238	C	A	C104444238A	DPYS	NM_001385.3(DPYS):c.793+10G>T	noncoding	Benign/Likely_benign
8	104444276	A	G	A104444276G	DPYS	NM_001385.3(DPYS):c.765T>C:p.Ala255=	coding	Benign
8	104444291	C	T	C104444291T	DPYS	NM_001385.3(DPYS):c.750G>A:p.Met250Ile	coding	Pathogenic
8	104444369	T	C	T104444369C	DPYS	NM_001385.3(DPYS):c.672A>G:p.Ala224=	coding	Benign
8	104447386	G	A	G104447386A	DPYS	NM_001385.3(DPYS):c.541C>T:p.Arg181Trp	coding	Benign
8	104447399	G	A	G104447399A	DPYS	NM_001385.3(DPYS):c.528C>T:p.Tyr176=	coding	Benign/Likely_benign
8	104447504	C	T	C104447504T	DPYS	NM_001385.3(DPYS):c.424-1G>A	coding	Pathogenic
8	104466705	G	A	G104466705A	DPYS	NM_001385.3(DPYS):c.216C>T:p.Phe72=	coding	Benign
8	104466746	C	A	C104466746A	DPYS	NM_001385.3(DPYS):c.175G>T:p.Val59Phe	coding	Pathogenic
8	104466904	C	T	C104466904T	DPYS	NM_001385.3(DPYS):c.17G>A:p.Arg6Gln	coding	Benign
8	104466906	C	T	C104466906T	DPYS	NM_001385.3(DPYS):c.15G>A:p.Ser5=	coding	Benign
8	104466921	A	G	A104466921G	DPYS	NM_001385.3(DPYS):c.-1T>C	coding	Benign
8	105419140	C	A	C105419140A	ZFPM2	NM_012082.4(ZFPM2):c.41-4C>A	noncoding	Benign
8	105444372	G	A	G105444372A	ZFPM2	NM_012082.4(ZFPM2):c.292G>A:p.Asp98Asn	coding	Benign
8	105561350	C	T	C105561350T	ZFPM2	NM_012082.4(ZFPM2):c.302-13C>T	noncoding	Benign
8	105561395	C	T	C105561395T	ZFPM2	NM_012082.4(ZFPM2):c.334C>T:p.Arg112Ter	coding	Pathogenic
8	105788714	A	T	A105788714T	ZFPM2	NM_012082.4(ZFPM2):c.533-4A>T	noncoding	Benign
8	105788814	G	C	G105788814C	ZFPM2	NM_012082.4(ZFPM2):c.629G>C:p.Ser210Thr	coding	Benign/Likely_benign
8	105788866	T	G	T105788866G	ZFPM2	NM_012082.4(ZFPM2):c.681T>G:p.Ile227Met	coding	Pathogenic
8	105798763	G	A	G105798763A	ZFPM2	NM_012082.4(ZFPM2):c.779G>A:p.Arg260Gln	coding	Pathogenic
8	105801085	C	G	C105801085G	ZFPM2	NM_012082.4(ZFPM2):c.1003C>G:p.Leu335Val	coding	Benign
8	105801097	G	A	G105801097A	ZFPM2	NM_012082.4(ZFPM2):c.1015G>A:p.Val339Ile	coding	Benign
8	105801288	T	A	T105801288A	ZFPM2	NM_012082.4(ZFPM2):c.1206T>A:p.Ser402Arg	coding	Pathogenic
8	105801290	C	G	C105801290G	ZFPM2	NM_012082.4(ZFPM2):c.1208C>G:p.Ala403Gly	coding	Benign
8	105801337	G	A	G105801337A	ZFPM2	NM_012082.4(ZFPM2):c.1255G>A:p.Glu419Lys	coding	Benign
8	105801358	G	A	G105801358A	ZFPM2	NM_012082.4(ZFPM2):c.1276G>A:p.Ala426Thr	coding	Benign
8	105801444	A	G	A105801444G	ZFPM2	NM_012082.4(ZFPM2):c.1362A>G:p.Pro454=	coding	Benign
8	105801651	G	C	G105801651C	ZFPM2	NM_012082.4(ZFPM2):c.1569G>C:p.Leu523=	coding	Benign
8	105801660	G	T	G105801660T	ZFPM2	NM_012082.4(ZFPM2):c.1578G>T:p.Arg526=	coding	Benign
8	105801694	G	A	G105801694A	ZFPM2	NM_012082.4(ZFPM2):c.1612G>A:p.Val538Ile	coding	Benign
8	105801852	G	C	G105801852C	ZFPM2	NM_012082.4(ZFPM2):c.1770G>C:p.Lys590Asn	coding	Benign
8	105801858	T	C	T105801858C	ZFPM2	NM_012082.4(ZFPM2):c.1776T>C:p.Pro592=	coding	Benign
8	105802051	A	G	A105802051G	ZFPM2	NM_012082.4(ZFPM2):c.1969A>G:p.Ser657Gly	coding	Benign
8	105802179	C	T	C105802179T	ZFPM2	NM_012082.4(ZFPM2):c.2097C>T:p.His699=	coding	Benign
8	105802189	A	C	A105802189C	ZFPM2	NM_012082.4(ZFPM2):c.2107A>C:p.Met703Leu	coding	Benign
8	105802291	A	G	A105802291G	ZFPM2	NM_012082.4(ZFPM2):c.2209A>G:p.Lys737Glu	coding	Pathogenic
8	105802369	G	A	G105802369A	ZFPM2	NM_012082.4(ZFPM2):c.2287G>A:p.Val763Ile	coding	Benign
8	105802428	G	C	G105802428C	ZFPM2	NM_012082.4(ZFPM2):c.2346G>C:p.Glu782Asp	coding	Benign
8	105802467	C	G	C105802467G	ZFPM2	NM_012082.4(ZFPM2):c.2385C>G:p.Val795=	coding	Benign
8	105802572	A	T	A105802572T	ZFPM2	NM_012082.4(ZFPM2):c.2490A>T:p.Ile830=	coding	Benign
8	105802583	A	G	A105802583G	ZFPM2	NM_012082.4(ZFPM2):c.2501A>G:p.Lys834Arg	coding	Benign
8	105802609	A	G	A105802609G	ZFPM2	NM_012082.4(ZFPM2):c.2527A>G:p.Thr843Ala	coding	Pathogenic
8	105802747	C	G	C105802747G	ZFPM2	NM_012082.4(ZFPM2):c.2665C>G:p.Gln889Glu	coding	Benign
8	105803058	T	C	T105803058C	ZFPM2	NM_012082.4(ZFPM2):c.2976T>C:p.Tyr992=	coding	Benign
8	105803160	G	A	G105803160A	ZFPM2	NM_012082.4(ZFPM2):c.3078G>A:p.Ala1026=	coding	Benign
8	105803246	C	T	C105803246T	ZFPM2	NM_012082.4(ZFPM2):c.3164C>T:p.Ala1055Val	coding	Benign
8	105803289	C	T	C105803289T	ZFPM2	NM_012082.4(ZFPM2):c.3207C>T:p.His1069=	coding	Benign
8	105803451	A	G	A105803451G	ZFPM2	NM_012082.4(ZFPM2):c.3369A>G:p.Leu1123=	coding	Benign
8	106706621	C	G	C106706621G	OXR1	NM_018002.3(OXR1):c.1100C>G:p.Ser367Ter	coding	Pathogenic
8	106739584	G	T	G106739584T	OXR1	NM_018002.3(OXR1):c.2082+1G>T	coding	Pathogenic
8	106742221	G	C	G106742221C	OXR1	NM_018002.3(OXR1):c.2236-1G>C	noncoding	Pathogenic/Likely_pathogenic
8	107497331	C	T	C107497331T	ANGPT1	NM_001146.5(ANGPT1):c.228G>A:p.Pro76=	coding	Benign
8	107497403	G	T	G107497403T	ANGPT1	NM_001146.5(ANGPT1):c.156C>A:p.Gly52=	coding	Benign
8	107958108	G	A	G107958108A	RSPO2	NM_178565.5(RSPO2):c.588C>T:p.Cys196=	coding	Benign
8	107960692	C	A	C107960692A	RSPO2	NM_178565.5(RSPO2):c.409G>T:p.Glu137Ter	coding	Pathogenic
8	107989134	G	A	G107989134A	RSPO2	NM_178565.5(RSPO2):c.205C>T:p.Arg69Cys	coding	Pathogenic
8	109087561	C	T	C109087561T	TRHR	NM_003301.7(TRHR):c.49C>T:p.Arg17Ter	coding	Pathogenic
8	109087635	A	G	A109087635G	TRHR	NM_003301.7(TRHR):c.123A>G:p.Val41=	coding	Benign
8	109087904	T	C	T109087904C	TRHR	NM_003301.6(TRHR):c.392T>C:p.Ile131Thr	coding	Pathogenic
8	109119407	T	C	T109119407C	TRHR	NM_003301.7(TRHR):c.1149T>C:p.Ser383=	coding	Benign
8	109400182	G	C	G109400182C	PKHD1L1	NM_177531.6(PKHD1L1):c.1119G>C:p.Trp373Cys	coding	Benign
8	109427026	C	A	C109427026A	PKHD1L1	NM_177531.6(PKHD1L1):c.2870C>A:p.Ala957Glu	coding	Benign
8	109452281	G	A	G109452281A	PKHD1L1	NM_177531.6(PKHD1L1):c.6507+1G>A	coding	Benign
8	109454819	C	T	C109454819T	PKHD1L1	NM_177531.6(PKHD1L1):c.6841C>T:p.Leu2281=	coding	Benign
8	109464224	T	C	T109464224C	PKHD1L1	NM_177531.6(PKHD1L1):c.7392T>C:p.His2464=	coding	Benign
8	109464547	G	A	G109464547A	PKHD1L1	NM_177531.6(PKHD1L1):c.7715G>A:p.Arg2572Gln	coding	Benign
8	109483074	T	C	T109483074C	PKHD1L1	NM_177531.6(PKHD1L1):c.9545T>C:p.Val3182Ala	coding	Benign
8	109553948	G	T	G109553948T	EBAG9	NM_004215.5(EBAG9):c.162+5G>T	noncoding	Benign
8	109575740	G	A	G109575740A	SYBU	NM_001099754.2(SYBU):c.1158C>T:p.Asp386=	coding	Benign
8	109579922	A	G	A109579922G	SYBU	NM_001099754.2(SYBU):c.611T>C:p.Leu204Pro	coding	Benign
8	109619023	A	G	A109619023G	SYBU	NM_001099754.2(SYBU):c.246T>C:p.Pro82=	coding	Benign
8	112254262	G	A	G112254262A	CSMD3	NM_198123.2(CSMD3):c.10101C>T:p.Phe3367=	coding	Benign
8	112263649	C	T	C112263649T	CSMD3	NM_198123.2(CSMD3):c.9852G>A:p.Pro3284=	coding	Benign
8	112263769	C	A	C112263769A	CSMD3	NM_198123.2(CSMD3):c.9732G>T:p.Leu3244=	coding	Benign
8	112289515	C	G	C112289515G	CSMD3	NM_198123.2(CSMD3):c.8998G>C:p.Val3000Leu	coding	Benign
8	112295843	T	A	T112295843A	CSMD3	NM_198123.2(CSMD3):c.8604A>T:p.Pro2868=	coding	Benign
8	112304797	A	C	A112304797C	CSMD3	NM_198123.2(CSMD3):c.8190T>G:p.His2730Gln	coding	Benign
8	112406593	T	C	T112406593C	CSMD3	NM_198123.2(CSMD3):c.5740A>G:p.Ile1914Val	coding	Benign
8	112492531	C	T	C112492531T	CSMD3	NM_198123.2(CSMD3):c.5236G>A:p.Asp1746Asn	coding	Benign
8	112503980	G	A	G112503980A	CSMD3	NM_198123.2(CSMD3):c.4896-3C>T	noncoding	Benign
8	112550714	C	T	C112550714T	CSMD3	NM_198123.2(CSMD3):c.4521G>A:p.Thr1507=	coding	Benign
8	112550798	A	C	A112550798C	CSMD3	NM_198123.2(CSMD3):c.4437T>G:p.Asp1479Glu	coding	Benign
8	112550816	G	A	G112550816A	CSMD3	NM_198123.2(CSMD3):c.4419C>T:p.Asp1473=	coding	Benign
8	112650279	A	G	A112650279G	CSMD3	NM_198123.2(CSMD3):c.3075T>C:p.Asp1025=	coding	Benign
8	112650295	C	T	C112650295T	CSMD3	NM_198123.2(CSMD3):c.3059G>A:p.Arg1020His	coding	Benign
8	112656224	A	G	A112656224G	CSMD3	NM_198123.2(CSMD3):c.2934T>C:p.Ser978=	coding	Benign
8	112689962	C	T	C112689962T	CSMD3	NM_198123.2(CSMD3):c.2061G>A:p.Arg687=	coding	Benign
8	112829742	A	G	A112829742G	CSMD3	NM_198123.2(CSMD3):c.1803T>C:p.Asp601=	coding	Benign
8	112947804	G	A	G112947804A	CSMD3	NM_198123.2(CSMD3):c.1494C>T:p.Ile498=	coding	Benign
8	112975949	C	A	C112975949A	CSMD3	NM_198123.2(CSMD3):c.1230G>T:p.Thr410=	coding	Benign
8	113314624	G	A	G113314624A	CSMD3	NM_198123.2(CSMD3):c.348C>T:p.Tyr116=	coding	Benign
8	115414210	C	T	C115414210T	TRPS1	NM_014112.5(TRPS1):c.3698G>A:p.Cys1233Tyr	coding	Pathogenic
8	115414593	G	C	G115414593C	TRPS1	NM_014112.5(TRPS1):c.3315C>G:p.Tyr1105Ter	coding	Pathogenic
8	115415014	C	T	C115415014T	TRPS1	NM_014112.5(TRPS1):c.2894G>A:p.Arg965His	coding	Pathogenic
8	115415015	G	A	G115415015A	TRPS1	NM_014112.5(TRPS1):c.2893C>T:p.Arg965Cys	coding	Pathogenic
8	115415107	A	C	A115415107C	TRPS1	NM_014112.5(TRPS1):c.2824-23T>G	noncoding	Pathogenic
8	115418315	G	T	G115418315T	TRPS1	NM_014112.5(TRPS1):c.2823+15C>A	noncoding	Benign
8	115418329	C	A	C115418329A	TRPS1	NM_014112.5(TRPS1):c.2823+1G>T	noncoding	Pathogenic
8	115418331	G	T	G115418331T	TRPS1	NM_014112.5(TRPS1):c.2822C>A:p.Ser941Ter	coding	Pathogenic
8	115418352	C	A	C115418352A	TRPS1	NM_014112.5(TRPS1):c.2801G>T:p.Gly934Val	coding	Pathogenic
8	115418358	G	A	G115418358A	TRPS1	NM_014112.5(TRPS1):c.2795C>T:p.Ala932Val	coding	Pathogenic
8	115418359	C	T	C115418359T	TRPS1	NM_014112.5(TRPS1):c.2794G>A:p.Ala932Thr	coding	Pathogenic/Likely_pathogenic
8	115418387	C	T	C115418387T	TRPS1	NM_014112.5(TRPS1):c.2766G>A:p.Lys922=	coding	Benign
8	115418391	C	G	C115418391G	TRPS1	NM_014112.5(TRPS1):c.2762G>C:p.Arg921Pro	coding	Pathogenic
8	115418391	C	T	C115418391T	TRPS1	NM_014112.5(TRPS1):c.2762G>A:p.Arg921Gln	coding	Pathogenic
8	115418392	G	A	G115418392A	TRPS1	NM_014112.5(TRPS1):c.2761C>T:p.Arg921Ter	coding	Pathogenic
8	115418397	A	G	A115418397G	TRPS1	NM_014112.5(TRPS1):c.2756T>C:p.Leu919Pro	coding	Pathogenic
8	115418413	T	G	T115418413G	TRPS1	NM_014112.5(TRPS1):c.2740A>C:p.Thr914Pro	coding	Pathogenic
8	115418422	T	A	T115418422A	TRPS1	NM_014112.5(TRPS1):c.2731A>T:p.Asn911Tyr	coding	Pathogenic
8	115586972	T	G	T115586972G	TRPS1	NM_014112.5(TRPS1):c.2700+29A>C	noncoding	Benign
8	115586991	A	G	A115586991G	TRPS1	NM_014112.5(TRPS1):c.2700+10T>C	noncoding	Benign
8	115587000	C	T	C115587000T	TRPS1	NM_014112.5(TRPS1):c.2700+1G>A	noncoding	Pathogenic
8	115587043	C	A	C115587043A	TRPS1	NM_014112.5(TRPS1):c.2658G>T:p.Ser886=	coding	Benign
8	115587060	G	A	G115587060A	TRPS1	NM_014112.5(TRPS1):c.2641C>T:p.Gln881Ter	coding	Pathogenic
8	115587133	A	C	A115587133C	TRPS1	NM_014112.5(TRPS1):c.2568T>G:p.Tyr856Ter	coding	Pathogenic
8	115587144	G	A	G115587144A	TRPS1	NM_014112.5(TRPS1):c.2557C>T:p.Arg853Ter	coding	Pathogenic
8	115587216	G	C	G115587216C	TRPS1	NM_014112.5(TRPS1):c.2485C>G:p.Pro829Ala	coding	Benign
8	115587241	G	A	G115587241A	TRPS1	NM_014112.5(TRPS1):c.2460C>T:p.Thr820=	coding	Benign
8	115587280	C	T	C115587280T	TRPS1	NM_014112.5(TRPS1):c.2421G>A:p.Trp807Ter	coding	Pathogenic
8	115587478	C	T	C115587478T	TRPS1	NM_014112.5(TRPS1):c.2223G>A:p.Glu741=	coding	Benign
8	115603875	G	T	G115603875T	TRPS1	NM_014112.5(TRPS1):c.2094C>A:p.Tyr698Ter	coding	Pathogenic
8	115603883	G	A	G115603883A	TRPS1	NM_014112.5(TRPS1):c.2086C>T:p.Arg696Ter	coding	Pathogenic
8	115604087	G	A	G115604087A	TRPS1	NM_014112.5(TRPS1):c.1882C>T:p.Gln628Ter	coding	Pathogenic
8	115604099	G	A	G115604099A	TRPS1	NM_014112.5(TRPS1):c.1870C>T:p.Arg624Ter	coding	Pathogenic
8	115604112	C	T	C115604112T	TRPS1	NM_014112.5(TRPS1):c.1857G>A:p.Ala619=	coding	Benign
8	115604181	A	G	A115604181G	TRPS1	NM_014112.5(TRPS1):c.1788T>C:p.Tyr596=	coding	Benign
8	115604276	G	A	G115604276A	TRPS1	NM_014112.5(TRPS1):c.1693C>T:p.Gln565Ter	coding	Pathogenic
8	115604339	G	A	G115604339A	TRPS1	NM_014112.5(TRPS1):c.1630C>T:p.Arg544Ter	coding	Pathogenic
8	115604670	G	C	G115604670C	TRPS1	NM_014112.5(TRPS1):c.1299C>G:p.Leu433=	coding	Benign
8	115604774	G	A	G115604774A	TRPS1	NM_014112.5(TRPS1):c.1195C>T:p.Leu399Phe	coding	Benign/Likely_benign
8	115604789	T	A	T115604789A	TRPS1	NM_014112.5(TRPS1):c.1180A>T:p.Lys394Ter	coding	Pathogenic
8	115604805	T	C	T115604805C	TRPS1	NM_014112.5(TRPS1):c.1164A>G:p.Ser388=	coding	Benign
8	115604864	G	A	G115604864A	TRPS1	NM_014112.5(TRPS1):c.1105C>T:p.Gln369Ter	coding	Pathogenic
8	115604876	G	A	G115604876A	TRPS1	NM_014112.5(TRPS1):c.1093C>T:p.Gln365Ter	coding	Pathogenic
8	115604881	A	C	A115604881C	TRPS1	NM_014112.5(TRPS1):c.1088T>G:p.Leu363Ter	coding	Pathogenic
8	115604916	G	T	G115604916T	TRPS1	NM_014112.5(TRPS1):c.1053C>A:p.Cys351Ter	coding	Pathogenic
8	115619282	C	T	C115619282T	TRPS1	NM_014112.5(TRPS1):c.816G>A:p.Glu272=	coding	Benign
8	115619433	T	C	T115619433C	TRPS1	NM_014112.5(TRPS1):c.665A>G:p.Asn222Ser	coding	Benign
8	115619675	C	A	C115619675A	TRPS1	NM_014112.5(TRPS1):c.423G>T:p.Pro141=	coding	Benign
8	116771601	A	G	A116771601G	UTP23	NM_032334.3(UTP23):c.509A>G:p.His170Arg	coding	Benign
8	116847532	C	T	C116847532T	RAD21	NM_006265.2(RAD21):c.1864G>A:p.Ala622Thr	coding	Pathogenic
8	116847553	C	A	C116847553A	RAD21	NM_006265.3(RAD21):c.1843G>T:p.Glu615Ter	coding	Pathogenic
8	116847643	A	G	A116847643G	RAD21	NM_006265.2(RAD21):c.1753T>C:p.Cys585Arg	coding	Pathogenic
8	116849277	T	C	T116849277C	RAD21	NM_006265.2(RAD21):c.1621-248A>G	noncoding	Benign
8	116850723	G	C	G116850723C	RAD21	NM_006265.2(RAD21):c.1515C>G:p.Pro505=	coding	Benign
8	116851978	A	G	A116851978G	RAD21	NM_006265.2(RAD21):c.1440T>C:p.Ala480=	coding	Benign
8	116851986	G	A	G116851986A	RAD21	NM_006265.3(RAD21):c.1432C>T:p.Arg478Ter	coding	Pathogenic
8	116852564	G	A	G116852564A	RAD21	NM_006265.2(RAD21):c.1306C>T:p.Gln436Ter	coding	Pathogenic/Likely_pathogenic
8	116852628	A	C	A116852628C	RAD21	NM_006265.2(RAD21):c.1242T>G:p.Asp414Glu	coding	Benign
8	116852633	A	G	A116852633G	RAD21	NM_006265.3(RAD21):c.1237T>C:p.Leu413=	coding	Benign
8	116852648	C	A	C116852648A	RAD21	NM_006265.3(RAD21):c.1222G>T:p.Gly408Ter	coding	Pathogenic
8	116854244	C	T	C116854244T	RAD21	NM_006265.2(RAD21):c.1161+1G>A	noncoding	Pathogenic
8	116854264	C	T	C116854264T	RAD21	NM_006265.3(RAD21):c.1142G>A:p.Trp381Ter	coding	Pathogenic
8	116854279	G	C	G116854279C	RAD21	NM_006265.2(RAD21):c.1127C>G:p.Pro376Arg	coding	Pathogenic
8	116854479	A	G	A116854479G	RAD21	NM_006265.2(RAD21):c.938-11T>C	noncoding	Benign/Likely_benign
8	116856674	G	A	G116856674A	RAD21	NM_006265.2(RAD21):c.786C>T:p.Asp262=	coding	Benign
8	116857221	A	G	A116857221G	RAD21	NM_006265.2(RAD21):c.688+46T>C	noncoding	Benign
8	116857259	C	T	C116857259T	RAD21	NM_006265.2(RAD21):c.688+8G>A	noncoding	Benign
8	116857366	G	A	G116857366A	RAD21	NM_006265.3(RAD21):c.589C>T:p.Gln197Ter	coding	Pathogenic
8	116857377	A	T	A116857377T	RAD21	NM_006265.2(RAD21):c.578T>A:p.Leu193Ter	coding	Pathogenic
8	116858136	A	G	A116858136G	RAD21	NM_006265.2(RAD21):c.481+216T>C	noncoding	Benign
8	116858367	G	A	G116858367A	RAD21	NM_006265.3(RAD21):c.466C>T:p.Gln156Ter	coding	Pathogenic
8	116863196	T	A	T116863196A	RAD21	NM_006265.2(RAD21):c.208A>T:p.Lys70Ter	coding	Pathogenic
8	116863263	T	C	T116863263C	RAD21	NM_006265.2(RAD21):c.145-4A>G	noncoding	Benign/Likely_benign
8	116866452	C	T	C116866452T	RAD21	NM_006265.2(RAD21):c.144+134G>A	noncoding	Benign
8	116866585	C	T	C116866585T	RAD21	NM_006265.3(RAD21):c.144+1G>A	noncoding	Pathogenic
8	116866727	C	T	C116866727T	RAD21	NM_006265.3(RAD21):c.3G>A:p.Met1Ile	coding	Pathogenic
8	116874629	T	A	T116874629A	RAD21	NM_006265.2(RAD21):c.-51A>T	noncoding	Benign
8	116938453	G	A	G116938453A	AARD	NM_001025357.3(AARD):c.210G>A:p.Ala70=	coding	Benign
8	117146954	T	C	T117146954C	SLC30A8	NM_001172813.2(SLC30A8):c.-76T>C	coding	Benign
8	117520949	G	T	G117520949T	MED30	NM_080651.4(MED30):c.73G>T:p.Ala25Ser	coding	Benign
8	117799775	G	A	G117799775A	EXT1	NM_000127.3(EXT1):c.2178C>T:p.Pro726=	coding	Benign
8	117799821	C	T	C117799821T	EXT1	NM_000127.2(EXT1):c.2132G>A:p.Trp711Ter	coding	Pathogenic
8	117799849	G	A	G117799849A	EXT1	NM_000127.2(EXT1):c.2104C>T:p.Gln702Ter	coding	Pathogenic
8	117799852	G	A	G117799852A	EXT1	NM_000127.2(EXT1):c.2101C>T:p.Arg701Ter	coding	Pathogenic
8	117804724	G	A	G117804724A	EXT1	NM_000127.3(EXT1):c.2053C>T:p.Gln685Ter	coding	Pathogenic
8	117804743	A	C	A117804743C	EXT1	NM_000127.2(EXT1):c.2034T>G:p.Tyr678Ter	coding	Pathogenic
8	117804748	G	A	G117804748A	EXT1	NM_000127.3(EXT1):c.2029C>T:p.Gln677Ter	coding	Pathogenic
8	117804751	T	A	T117804751A	EXT1	NM_000127.3(EXT1):c.2026A>T:p.Lys676Ter	coding	Pathogenic
8	117804777	A	T	A117804777T	EXT1	NM_000127.2(EXT1):c.2000T>A:p.Leu667Ter	coding	Pathogenic
8	117804818	C	T	C117804818T	EXT1	NM_000127.2(EXT1):c.1959G>A:p.Glu653=	coding	Benign/Likely_benign
8	117804866	G	T	G117804866T	EXT1	NM_000127.2(EXT1):c.1911C>A:p.Tyr637Ter	coding	Pathogenic
8	117804894	C	G	C117804894G	EXT1	NM_000127.2(EXT1):c.1884-1G>C	coding	Pathogenic
8	117804894	C	T	C117804894T	EXT1	NM_000127.2(EXT1):c.1884-1G>A	coding	Pathogenic
8	117807215	A	G	A117807215G	EXT1	NM_000127.3(EXT1):c.1883+2T>C	noncoding	Pathogenic
8	117807216	C	A	C117807216A	EXT1	NM_000127.3(EXT1):c.1883+1G>T	noncoding	Pathogenic
8	117807216	C	T	C117807216T	EXT1	NM_000127.3(EXT1):c.1883+1G>A	noncoding	Pathogenic
8	117807222	G	C	G117807222C	EXT1	NM_000127.2(EXT1):c.1878C>G:p.Tyr626Ter	coding	Pathogenic
8	117807252	G	C	G117807252C	EXT1	NM_000127.3(EXT1):c.1848C>G:p.Tyr616Ter	coding	Pathogenic
8	117807281	C	A	C117807281A	EXT1	NM_000127.3(EXT1):c.1819G>T:p.Gly607Ter	coding	Pathogenic
8	117807282	C	T	C117807282T	EXT1	NM_000127.3(EXT1):c.1818G>A:p.Trp606Ter	coding	Pathogenic
8	117807283	C	T	C117807283T	EXT1	NM_000127.2(EXT1):c.1817G>A:p.Trp606Ter	coding	Pathogenic
8	117807290	C	A	C117807290A	EXT1	NM_000127.2(EXT1):c.1810G>T:p.Glu604Ter	coding	Pathogenic
8	117807303	C	T	C117807303T	EXT1	NM_000127.3(EXT1):c.1797G>A:p.Trp599Ter	coding	Pathogenic
8	117807304	C	T	C117807304T	EXT1	NM_000127.3(EXT1):c.1796G>A:p.Trp599Ter	coding	Pathogenic
8	117807318	C	T	C117807318T	EXT1	NM_000127.2(EXT1):c.1782G>A:p.Ala594=	coding	Benign/Likely_benign
8	117807321	G	A	G117807321A	EXT1	NM_000127.2(EXT1):c.1779C>T:p.Pro593=	coding	Benign/Likely_benign
8	117807324	G	T	G117807324T	EXT1	NM_000127.3(EXT1):c.1776C>A:p.Tyr592Ter	coding	Pathogenic
8	117807339	C	T	C117807339T	EXT1	NM_000127.2(EXT1):c.1761G>A:p.Glu587=	coding	Benign
8	117807354	C	T	C117807354T	EXT1	NM_000127.3(EXT1):c.1746G>A:p.Trp582Ter	coding	Pathogenic
8	117807355	C	T	C117807355T	EXT1	NM_000127.2(EXT1):c.1745G>A:p.Trp582Ter	coding	Pathogenic
8	117807379	T	A	T117807379A	EXT1	NM_000127.3(EXT1):c.1723-2A>T	noncoding	Pathogenic
8	117812870	A	C	A117812870C	EXT1	NM_000127.3(EXT1):c.1722+2T>G	noncoding	Pathogenic
8	117812871	C	A	C117812871A	EXT1	NM_000127.3(EXT1):c.1722+1G>T	noncoding	Pathogenic
8	117812898	C	A	C117812898A	EXT1	NM_000127.3(EXT1):c.1696G>T:p.Glu566Ter	coding	Pathogenic
8	117812914	G	A	G117812914A	EXT1	NM_000127.3(EXT1):c.1680C>T:p.Ala560=	coding	Benign
8	117812962	C	A	C117812962A	EXT1	NM_000127.3(EXT1):c.1633-1G>T	coding	Pathogenic
8	117812962	C	T	C117812962T	EXT1	NM_000127.3(EXT1):c.1633-1G>A	coding	Pathogenic
8	117812963	T	C	T117812963C	EXT1	NM_000127.2(EXT1):c.1633-2A>G	noncoding	Pathogenic
8	117812987	G	T	G117812987T	EXT1	NM_000127.2(EXT1):c.1633-26C>A	noncoding	Benign
8	117818480	C	T	C117818480T	EXT1	NM_000127.3(EXT1):c.1587G>A:p.Trp529Ter	coding	Pathogenic
8	117818491	T	A	T117818491A	EXT1	NM_000127.2(EXT1):c.1576A>T:p.Lys526Ter	coding	Pathogenic
8	117818510	A	T	A117818510T	EXT1	NM_000127.2(EXT1):c.1557T>A:p.Cys519Ter	coding	Pathogenic
8	117818516	C	T	C117818516T	EXT1	NM_000127.3(EXT1):c.1551G>A:p.Trp517Ter	coding	Pathogenic
8	117818532	T	C	T117818532C	EXT1	NM_000127.2(EXT1):c.1537-2A>G	noncoding	Pathogenic
8	117819669	C	T	C117819669T	EXT1	NM_000127.2(EXT1):c.1536+7G>A	noncoding	Benign/Likely_benign
8	117819678	G	A	G117819678A	EXT1	NM_000127.3(EXT1):c.1534C>T:p.Gln512Ter	coding	Pathogenic
8	117819709	G	C	G117819709C	EXT1	NM_000127.3(EXT1):c.1503C>G:p.Leu501=	coding	Benign
8	117819735	G	A	G117819735A	EXT1	NM_000127.3(EXT1):c.1477C>T:p.Gln493Ter	coding	Pathogenic
8	117819781	G	A	G117819781A	EXT1	NM_000127.2(EXT1):c.1431C>T:p.Pro477=	coding	Benign
8	117819791	A	T	A117819791T	EXT1	NM_000127.3(EXT1):c.1421T>A:p.Leu474Ter	coding	Pathogenic
8	117819796	T	C	T117819796C	EXT1	NM_000127.2(EXT1):c.1418-2A>G	noncoding	Pathogenic
8	117822463	A	T	A117822463T	EXT1	NM_000127.2(EXT1):c.1417+2T>A	noncoding	Pathogenic
8	117822464	C	A	C117822464A	EXT1	NM_000127.3(EXT1):c.1417+1G>T	noncoding	Pathogenic
8	117822464	C	T	C117822464T	EXT1	NM_000127.2(EXT1):c.1417+1G>A	noncoding	Pathogenic
8	117822478	G	C	G117822478C	EXT1	NM_000127.3(EXT1):c.1404C>G:p.Tyr468Ter	coding	Pathogenic
8	117822481	G	C	G117822481C	EXT1	NM_000127.3(EXT1):c.1401C>G:p.Tyr467Ter	coding	Pathogenic
8	117822523	G	A	G117822523A	EXT1	NM_000127.2(EXT1):c.1359C>T:p.Phe453=	coding	Benign/Likely_benign
8	117822547	C	T	C117822547T	EXT1	NM_000127.3(EXT1):c.1335G>A:p.Trp445Ter	coding	Pathogenic
8	117822566	G	C	G117822566C	EXT1	NM_000127.2(EXT1):c.1316C>G:p.Ser439Ter	coding	Pathogenic
8	117822566	G	T	G117822566T	EXT1	NM_000127.3(EXT1):c.1316C>A:p.Ser439Ter	coding	Pathogenic
8	117822591	G	A	G117822591A	EXT1	NM_000127.3(EXT1):c.1291C>T:p.Gln431Ter	coding	Pathogenic
8	117822598	C	G	C117822598G	EXT1	NM_000127.3(EXT1):c.1285-1G>C	coding	Pathogenic
8	117830278	C	T	C117830278T	EXT1	NM_000127.2(EXT1):c.1236G>A:p.Trp412Ter	coding	Pathogenic
8	117830279	C	T	C117830279T	EXT1	NM_000127.2(EXT1):c.1235G>A:p.Trp412Ter	coding	Pathogenic
8	117830295	G	A	G117830295A	EXT1	NM_000127.3(EXT1):c.1219C>T:p.Gln407Ter	coding	Pathogenic
8	117830322	G	A	G117830322A	EXT1	NM_000127.3(EXT1):c.1192C>T:p.Gln398Ter	coding	Pathogenic
8	117830350	C	T	C117830350T	EXT1	NM_000127.3(EXT1):c.1165-1G>A	coding	Pathogenic
8	117835447	T	C	T117835447C	EXT1	NM_000127.3(EXT1):c.1161A>G:p.Leu387=	coding	Benign
8	117835461	C	A	C117835461A	EXT1	NM_000127.2(EXT1):c.1147G>T:p.Glu383Ter	coding	Pathogenic
8	117835482	G	A	G117835482A	EXT1	NM_000127.3(EXT1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
8	117835491	T	C	T117835491C	EXT1	NM_000127.3(EXT1):c.1117A>G:p.Asn373Asp	coding	Benign
8	117835500	C	A	C117835500A	EXT1	NM_000127.3(EXT1):c.1108G>T:p.Glu370Ter	coding	Pathogenic
8	117835516	C	T	C117835516T	EXT1	NM_000127.2(EXT1):c.1092G>A:p.Trp364Ter	coding	Pathogenic
8	117835543	G	A	G117835543A	EXT1	NM_000127.2(EXT1):c.1065C>T:p.Cys355=	coding	Benign
8	117835543	G	T	G117835543T	EXT1	NM_000127.2(EXT1):c.1065C>A:p.Cys355Ter	coding	Pathogenic
8	117835552	C	G	C117835552G	EXT1	NM_000127.2(EXT1):c.1057-1G>C	coding	Pathogenic
8	117835553	T	C	T117835553C	EXT1	NM_000127.2(EXT1):c.1057-2A>G	noncoding	Pathogenic
8	117837105	T	G	T117837105G	EXT1	NM_000127.2(EXT1):c.1056+3A>C	noncoding	Pathogenic
8	117837106	A	T	A117837106T	EXT1	NM_000127.2(EXT1):c.1056+2T>A	noncoding	Pathogenic
8	117837107	C	A	C117837107A	EXT1	NM_000127.2(EXT1):c.1056+1G>T	noncoding	Pathogenic
8	117837107	C	T	C117837107T	EXT1	NM_000127.2(EXT1):c.1056+1G>A	noncoding	Pathogenic
8	117837108	C	A	C117837108A	EXT1	NM_000127.3(EXT1):c.1056G>T:p.Gln352His	coding	Pathogenic
8	117837128	T	C	T117837128C	EXT1	NM_000127.2(EXT1):c.1036A>G:p.Arg346Gly	coding	Pathogenic
8	117837144	G	A	G117837144A	EXT1	NM_000127.2(EXT1):c.1020C>T:p.Arg340=	coding	Benign
8	117837145	C	A	C117837145A	EXT1	NM_000127.2(EXT1):c.1019G>T:p.Arg340Leu	coding	Pathogenic
8	117837145	C	T	C117837145T	EXT1	NM_000127.2(EXT1):c.1019G>A:p.Arg340His	coding	Pathogenic
8	117837146	G	A	G117837146A	EXT1	NM_000127.2(EXT1):c.1018C>T:p.Arg340Cys	coding	Pathogenic
8	117837148	C	T	C117837148T	EXT1	NM_000127.2(EXT1):c.1016G>A:p.Gly339Asp	coding	Pathogenic
8	117837154	G	C	G117837154C	EXT1	NM_000127.3(EXT1):c.1010C>G:p.Pro337Arg	coding	Pathogenic
8	117837192	A	T	A117837192T	EXT1	NM_000127.2(EXT1):c.972T>A:p.Tyr324Ter	coding	Pathogenic
8	117837202	C	G	C117837202G	EXT1	NM_000127.2(EXT1):c.963-1G>C	coding	Pathogenic
8	117837203	T	C	T117837203C	EXT1	NM_000127.2(EXT1):c.963-2A>G	noncoding	Pathogenic
8	118110084	C	A	C118110084A	EXT1	NM_000127.2(EXT1):c.962+1G>T	noncoding	Pathogenic
8	118110084	C	G	C118110084G	EXT1	NM_000127.2(EXT1):c.962+1G>C	noncoding	Pathogenic
8	118110084	C	T	C118110084T	EXT1	NM_000127.2(EXT1):c.962+1G>A	noncoding	Pathogenic
8	118110086	T	A	T118110086A	EXT1	NM_000127.3(EXT1):c.961A>T:p.Lys321Ter	coding	Pathogenic
8	118110090	A	T	A118110090T	EXT1	NM_000127.2(EXT1):c.957T>A:p.Tyr319Ter	coding	Pathogenic
8	118110134	G	A	G118110134A	EXT1	NM_000127.2(EXT1):c.913C>T:p.Gln305Ter	coding	Pathogenic
8	118110135	C	T	C118110135T	EXT1	NM_000127.3(EXT1):c.912G>A:p.Trp304Ter	coding	Pathogenic
8	118110179	C	A	C118110179A	EXT1	NM_000127.3(EXT1):c.868G>T:p.Glu290Ter	coding	Pathogenic
8	118110195	A	T	A118110195T	EXT1	NM_000127.2(EXT1):c.852T>A:p.Tyr284Ter	coding	Pathogenic
8	118110207	C	G	C118110207G	EXT1	NM_000127.2(EXT1):c.840G>C:p.Arg280Ser	coding	Pathogenic
8	118110209	T	C	T118110209C	EXT1	NM_000127.2(EXT1):c.838A>G:p.Arg280Gly	coding	Pathogenic
8	118110235	T	C	T118110235C	EXT1	NM_000127.2(EXT1):c.812A>G:p.Tyr271Cys	coding	Pathogenic
8	118110245	C	T	C118110245T	EXT1	NM_000127.3(EXT1):c.802G>A:p.Gly268Arg	coding	Pathogenic
8	118110306	C	T	C118110306T	EXT1	NM_000127.3(EXT1):c.741G>A:p.Glu247=	coding	Benign
8	118110368	G	A	G118110368A	EXT1	NM_000127.3(EXT1):c.679C>T:p.Arg227Ter	coding	Pathogenic
8	118110463	A	C	A118110463C	EXT1	NM_000127.2(EXT1):c.584T>G:p.Leu195Ter	coding	Pathogenic
8	118110512	G	A	G118110512A	EXT1	NM_000127.2(EXT1):c.535C>T:p.Gln179Ter	coding	Pathogenic
8	118110591	G	T	G118110591T	EXT1	NM_000127.2(EXT1):c.456C>A:p.Cys152Ter	coding	Pathogenic
8	118110683	G	A	G118110683A	EXT1	NM_000127.2(EXT1):c.364C>T:p.Gln122Ter	coding	Pathogenic
8	118110690	G	T	G118110690T	EXT1	NM_000127.2(EXT1):c.357C>A:p.Tyr119Ter	coding	Pathogenic
8	118110696	G	C	G118110696C	EXT1	NM_000127.3(EXT1):c.351C>G:p.Tyr117Ter	coding	Pathogenic
8	118110761	T	A	T118110761A	EXT1	NM_000127.3(EXT1):c.286A>T:p.Lys96Ter	coding	Pathogenic
8	118110768	G	C	G118110768C	EXT1	NM_000127.2(EXT1):c.279C>G:p.Tyr93Ter	coding	Pathogenic
8	118110797	G	A	G118110797A	EXT1	NM_000127.2(EXT1):c.250C>T:p.Gln84Ter	coding	Pathogenic
8	118110839	G	A	G118110839A	EXT1	NM_000127.3(EXT1):c.208C>T:p.Gln70Ter	coding	Pathogenic
8	118110882	C	T	C118110882T	EXT1	NM_000127.2(EXT1):c.165G>A:p.Trp55Ter	coding	Pathogenic
8	118110930	T	C	T118110930C	EXT1	NM_000127.2(EXT1):c.117A>G:p.Glu39=	coding	Benign
8	118110932	C	A	C118110932A	EXT1	NM_000127.3(EXT1):c.115G>T:p.Glu39Ter	coding	Pathogenic
8	118110933	T	C	T118110933C	EXT1	NM_000127.2(EXT1):c.114A>G:p.Glu38=	coding	Benign
8	118110948	G	A	G118110948A	EXT1	NM_000127.3(EXT1):c.99C>T:p.Ser33=	coding	Benign
8	118110968	G	A	G118110968A	EXT1	NM_000127.3(EXT1):c.79C>T:p.Gln27Ter	coding	Pathogenic
8	118110977	C	A	C118110977A	EXT1	NM_000127.3(EXT1):c.70G>T:p.Gly24Ter	coding	Pathogenic/Likely_pathogenic
8	118110981	A	C	A118110981C	EXT1	NM_000127.3(EXT1):c.66T>G:p.Tyr22Ter	coding	Pathogenic
8	118111043	G	A	G118111043A	EXT1	NM_000127.3(EXT1):c.4C>T:p.Gln2Ter	coding	Pathogenic
8	118111312	G	A	G118111312A	EXT1	NM_000127.2(EXT1):c.-266C>T	noncoding	Benign
8	118111370	G	C	G118111370C	EXT1	NM_000127.2(EXT1):c.-324C>G	noncoding	Benign
8	118111546	A	C	A118111546C	EXT1	NM_000127.2(EXT1):c.-500T>G	noncoding	Benign
8	118111555	G	C	G118111555C	EXT1	NM_000127.2(EXT1):c.-509C>G	noncoding	Benign
8	118111681	G	A	G118111681A	EXT1	NM_000127.2(EXT1):c.-635C>T	noncoding	Benign
8	118111768	A	G	A118111768G	EXT1	NM_000127.2(EXT1):c.-722T>C	noncoding	Benign
8	118111820	G	C	G118111820C	EXT1	NM_000127.2(EXT1):c.-774C>G	noncoding	Benign
8	118923791	A	T	A118923791T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.*583T>A	noncoding	Benign
8	118924007	C	T	C118924007T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.*367G>A	noncoding	Benign
8	118924430	A	G	A118924430G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.1150T>C:p.Leu384=	coding	Benign
8	118924583	G	A	G118924583A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.997C>T:p.Arg333Ter	coding	Pathogenic
8	118924695	A	T	A118924695T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.885T>A:p.Leu295=	coding	Benign/Likely_benign
8	118924739	C	T	C118924739T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.841G>A:p.Val281Met	coding	Benign
8	118926486	T	G	T118926486G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.817+8A>C	noncoding	Benign
8	118926543	T	C	T118926543C	TNFRSF11B	NM_002546.4(TNFRSF11B):c.768A>G:p.Leu256=	coding	Benign
8	118926597	C	T	C118926597T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.714G>A:p.Glu238=	coding	Benign
8	118928772	G	A	G118928772A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.558C>T:p.Ser186=	coding	Benign
8	118928934	A	G	A118928934G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.401-5T>C	noncoding	Benign
8	118932927	G	A	G118932927A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.400+4C>T	noncoding	Benign
8	118932982	A	G	A118932982G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.349T>C:p.Phe117Leu	coding	Pathogenic
8	118933021	C	T	C118933021T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.310G>A:p.Val104Met	coding	Benign
8	118933071	C	T	C118933071T	TNFRSF11B	NM_002546.4(TNFRSF11B):c.260G>A:p.Cys87Tyr	coding	Pathogenic
8	118933105	T	G	T118933105G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.226A>C:p.Thr76Pro	coding	Pathogenic
8	118933145	G	A	G118933145A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.186C>T:p.Cys62=	coding	Benign
8	118933307	G	A	G118933307A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.31-7C>T	noncoding	Benign
8	118951777	G	A	G118951777A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.30+15C>T	noncoding	Benign
8	118951801	G	A	G118951801A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.21C>T:p.Cys7=	coding	Benign/Likely_benign
8	118951813	G	C	G118951813C	TNFRSF11B	NM_002546.4(TNFRSF11B):c.9C>G:p.Asn3Lys	coding	Benign
8	118952044	G	A	G118952044A	TNFRSF11B	NM_002546.3(TNFRSF11B):c.-223C>T	noncoding	Benign
8	119067306	C	T	C119067306T	COLEC10	NM_006438.5(COLEC10):c.25C>T:p.Arg9Ter	coding	Pathogenic
8	119089747	G	A	G119089747A	COLEC10	NM_006438.5(COLEC10):c.216G>A:p.Pro72=	coding	Benign
8	119102406	G	A	G119102406A	COLEC10	NM_006438.5(COLEC10):c.346+5G>A	noncoding	Benign
8	119105885	C	G	C119105885G	COLEC10	NM_006438.5(COLEC10):c.528C>G:p.Cys176Trp	coding	Pathogenic
8	119416576	G	T	G119416576T	CCN3	NM_002514.4(CCN3):c.44G>T:p.Cys15Phe	coding	Benign
8	119557583	G	A	G119557583A	ENPP2	NM_001040092.3(ENPP2):c.2530C>T:p.Arg844Cys	coding	Benign
8	119564816	C	T	C119564816T	ENPP2	NM_001040092.3(ENPP2):c.2264+7G>A	noncoding	Benign
8	119580166	T	C	T119580166C	ENPP2	NM_001040092.3(ENPP2):c.1730A>G:p.Asn577Ser	coding	Benign
8	119595982	A	G	A119595982G	ENPP2	NM_001040092.3(ENPP2):c.973-2122T>C	coding	Benign
8	119595989	C	T	C119595989T	ENPP2	NM_001040092.3(ENPP2):c.973-2129G>A	coding	Benign
8	119617567	A	C	A119617567C	ENPP2	NM_001040092.3(ENPP2):c.480-4T>G	noncoding	Benign
8	119731954	C	T	C119731954T	TAF2	NM_003184.4(TAF2):c.3570G>A:p.Arg1190=	coding	Benign
8	119746822	A	G	A119746822G	TAF2	NM_003184.4(TAF2):c.2991T>C:p.Asn997=	coding	Benign
8	119756016	A	G	A119756016G	TAF2	NM_003184.4(TAF2):c.2868T>C:p.Leu956=	coding	Benign
8	119781092	T	C	T119781092C	TAF2	NM_003184.4(TAF2):c.2214A>G:p.Thr738=	coding	Benign
8	119783402	T	G	T119783402G	TAF2	NM_003184.4(TAF2):c.2091A>C:p.Ser697=	coding	Benign
8	119783548	A	G	A119783548G	TAF2	NM_003184.4(TAF2):c.1945T>C:p.Trp649Arg	coding	Pathogenic
8	119788452	T	A	T119788452A	TAF2	NM_003184.4(TAF2):c.1684-5A>T	noncoding	Benign
8	119803944	C	T	C119803944T	TAF2	NM_003184.4(TAF2):c.494G>A:p.Ser165Asn	coding	Benign
8	120158188	A	G	A120158188G	COL14A1	NM_021110.4(COL14A1):c.147A>G:p.Ser49=	coding	Benign
8	120162495	A	G	A120162495G	COL14A1	NM_021110.4(COL14A1):c.275A>G:p.Asp92Gly	coding	Benign
8	120162562	A	G	A120162562G	COL14A1	NM_021110.4(COL14A1):c.342A>G:p.Gln114=	coding	Benign
8	120196802	G	C	G120196802C	COL14A1	NM_021110.4(COL14A1):c.448G>C:p.Val150Leu	coding	Benign
8	120199523	A	G	A120199523G	COL14A1	NM_021110.4(COL14A1):c.834A>G:p.Pro278=	coding	Benign
8	120203735	C	T	C120203735T	COL14A1	NM_021110.4(COL14A1):c.904C>T:p.Leu302=	coding	Benign
8	120212561	G	A	G120212561A	COL14A1	NM_021110.4(COL14A1):c.1581G>A:p.Thr527=	coding	Benign
8	120226642	A	C	A120226642C	COL14A1	NM_021110.4(COL14A1):c.1880A>C:p.Gln627Pro	coding	Benign
8	120227276	G	A	G120227276A	COL14A1	NM_021110.4(COL14A1):c.2061G>A:p.Thr687=	coding	Benign
8	120231499	G	A	G120231499A	COL14A1	NM_021110.4(COL14A1):c.2230G>A:p.Gly744Ser	coding	Benign
8	120247683	C	T	C120247683T	COL14A1	NM_021110.4(COL14A1):c.2550C>T:p.Asp850=	coding	Benign
8	120247697	C	T	C120247697T	COL14A1	NM_021110.4(COL14A1):c.2564C>T:p.Pro855Leu	coding	Benign
8	120270132	C	T	C120270132T	COL14A1	NM_021110.4(COL14A1):c.3171C>T:p.Ser1057=	coding	Benign
8	120278504	A	G	A120278504G	COL14A1	NM_021110.4(COL14A1):c.3407A>G:p.Lys1136Arg	coding	Benign
8	120279978	G	A	G120279978A	COL14A1	NM_021110.4(COL14A1):c.3525G>A:p.Ser1175=	coding	Benign
8	120280018	G	A	G120280018A	COL14A1	NM_021110.4(COL14A1):c.3565G>A:p.Val1189Ile	coding	Benign
8	120313994	A	G	A120313994G	COL14A1	NM_021110.4(COL14A1):c.4518A>G:p.Gln1506=	coding	Benign
8	120332149	G	A	G120332149A	COL14A1	NM_021110.4(COL14A1):c.4668G>A:p.Pro1556=	coding	Benign
8	120341348	A	G	A120341348G	COL14A1	NM_021110.4(COL14A1):c.4809A>G:p.Glu1603=	coding	Benign
8	120342382	T	C	T120342382C	COL14A1	NM_021110.4(COL14A1):c.4824T>C:p.Gly1608=	coding	Benign
8	120342418	G	A	G120342418A	COL14A1	NM_021110.4(COL14A1):c.4860G>A:p.Ala1620=	coding	Benign
8	120371146	C	T	C120371146T	COL14A1	NM_021110.4(COL14A1):c.5312-6C>T	noncoding	Benign
8	120443315	G	A	G120443315A	MRPL13	NM_014078.6(MRPL13):c.28-7C>T	noncoding	Benign
8	120453852	A	G	A120453852G	MTBP	NM_022045.5(MTBP):c.431A>G:p.Tyr144Cys	coding	Benign
8	120453883	G	A	G120453883A	MTBP	NM_022045.5(MTBP):c.462G>A:p.Leu154=	coding	Benign
8	120455498	A	G	A120455498G	MTBP	NM_022045.5(MTBP):c.548A>G:p.Tyr183Cys	coding	Benign
8	120459280	T	A	T120459280A	MTBP	NM_022045.5(MTBP):c.813T>A:p.Thr271=	coding	Benign
8	120488225	G	A	G120488225A	MTBP	NM_022045.5(MTBP):c.1232G>A:p.Arg411Lys	coding	Benign
8	120502582	C	G	C120502582G	MTBP	NM_022045.5(MTBP):c.1700C>G:p.Thr567Ser	coding	Benign
8	120506718	A	G	A120506718G	MTBP	NM_022045.5(MTBP):c.1740A>G:p.Leu580=	coding	Benign
8	121614529	G	C	G121614529C	HAS2	NM_005328.3(HAS2):c.1239C>G:p.Val413=	coding	Benign
8	122951840	C	T	C122951840T	ZHX2	NM_014943.5(ZHX2):c.330C>T:p.Tyr110=	coding	Benign
8	122952144	G	A	G122952144A	ZHX2	NM_014943.5(ZHX2):c.634G>A:p.Val212Met	coding	Benign
8	122952515	C	T	C122952515T	ZHX2	NM_014943.5(ZHX2):c.1005C>T:p.Asn335=	coding	Benign
8	122953244	G	A	G122953244A	ZHX2	NM_014943.5(ZHX2):c.1734G>A:p.Ser578=	coding	Benign
8	122953554	T	C	T122953554C	ZHX2	NM_014943.5(ZHX2):c.2044T>C:p.Leu682=	coding	Benign
8	123504643	G	T	G123504643T	FBXO32	NM_058229.4(FBXO32):c.939C>A:p.Thr313=	coding	Benign
8	123506455	G	A	G123506455A	FBXO32	NM_058229.4(FBXO32):c.771C>T:p.His257=	coding	Benign
8	123513306	G	A	G123513306A	FBXO32	NM_058229.4(FBXO32):c.543C>T:p.Val181=	coding	Benign
8	123652332	C	T	C123652332T	KLHL38	NM_001081675.3(KLHL38):c.595G>A:p.Ala199Thr	coding	Benign
8	123652417	G	A	G123652417A	KLHL38	NM_001081675.3(KLHL38):c.510C>T:p.Ala170=	coding	Benign
8	123652468	C	T	C123652468T	KLHL38	NM_001081675.3(KLHL38):c.459G>A:p.Lys153=	coding	Benign
8	123787756	T	C	T123787756C	FAM91A1	NM_144963.4(FAM91A1):c.1278+6T>C	noncoding	Benign
8	123808349	A	G	A123808349G	FAM91A1	NM_144963.4(FAM91A1):c.2110A>G:p.Ile704Val	coding	Benign
8	123970054	T	C	T123970054C	FER1L6	NM_001039112.2(FER1L6):c.404T>C:p.Ile135Thr	coding	Benign
8	123975164	A	G	A123975164G	FER1L6	NM_001039112.2(FER1L6):c.541A>G:p.Asn181Asp	coding	Benign
8	123975926	C	T	C123975926T	FER1L6	NM_001039112.2(FER1L6):c.712C>T:p.Leu238=	coding	Benign
8	123975927	T	C	T123975927C	FER1L6	NM_001039112.2(FER1L6):c.713T>C:p.Leu238Pro	coding	Benign
8	123976036	T	C	T123976036C	FER1L6	NM_001039112.2(FER1L6):c.822T>C:p.Ser274=	coding	Benign
8	124045759	G	C	G124045759C	FER1L6	NM_001039112.2(FER1L6):c.2590-8G>C	noncoding	Benign
8	124049709	G	T	G124049709T	FER1L6	NM_001039112.2(FER1L6):c.2827G>T:p.Gly943Trp	coding	Benign
8	124062032	G	A	G124062032A	FER1L6	NM_001039112.2(FER1L6):c.3328G>A:p.Asp1110Asn	coding	Benign
8	124071628	C	T	C124071628T	FER1L6	NM_001039112.2(FER1L6):c.4089C>T:p.Val1363=	coding	Benign
8	124082303	A	G	A124082303G	FER1L6	NM_001039112.2(FER1L6):c.4236A>G:p.Gln1412=	coding	Benign
8	124082411	C	T	C124082411T	FER1L6	NM_001039112.2(FER1L6):c.4344C>T:p.Phe1448=	coding	Benign
8	124101121	C	T	C124101121T	FER1L6	NM_001039112.2(FER1L6):c.4908C>T:p.Asp1636=	coding	Benign
8	124539123	A	G	A124539123G	NDUFB9	NM_005005.3(NDUFB9):c.-64A>G	noncoding	Benign
8	124539144	A	G	A124539144G	NDUFB9	NM_005005.3(NDUFB9):c.-43A>G	noncoding	Benign
8	124539151	C	G	C124539151G	NDUFB9	NM_005005.3(NDUFB9):c.-36C>G	noncoding	Benign
8	124539187	A	G	A124539187G	NDUFB9	NM_005005.3(NDUFB9):c.1A>G:p.Met1Val	coding	Pathogenic
8	124539210	C	T	C124539210T	NDUFB9	NM_005005.3(NDUFB9):c.24C>T:p.Pro8=	coding	Benign
8	124543041	C	T	C124543041T	NDUFB9	NM_005005.3(NDUFB9):c.102-46C>T	noncoding	Benign
8	124543176	T	C	T124543176C	NDUFB9	NM_005005.3(NDUFB9):c.191T>C:p.Leu64Pro	coding	Pathogenic
8	124543186	C	T	C124543186T	NDUFB9	NM_005005.3(NDUFB9):c.201C>T:p.Ala67=	coding	Benign/Likely_benign
8	124547174	C	T	C124547174T	NDUFB9	NM_005005.3(NDUFB9):c.408+61C>T	noncoding	Benign
8	124549457	T	G	T124549457G	NDUFB9	NM_005005.3(NDUFB9):c.409-304T>G	noncoding	Benign
8	124549514	G	A	G124549514A	NDUFB9	NM_005005.3(NDUFB9):c.409-247G>A	noncoding	Benign
8	124549788	C	T	C124549788T	NDUFB9	NM_005005.3(NDUFB9):c.436C>T:p.Pro146Ser	coding	Benign
8	124557903	G	A	G124557903A	NDUFB9	NM_014751.5(MTSS1):c.1036-28C>T	noncoding	Benign
8	124567749	C	T	C124567749T	NDUFB9	NM_014751.5(MTSS1):c.619-571G>A	noncoding	Benign
8	125024399	A	G	A125024399G	WASHC5	NM_014846.4(WASHC5):c.*218T>C	noncoding	Benign
8	125024539	T	C	T125024539C	WASHC5	NM_014846.4(WASHC5):c.*78A>G	noncoding	Benign
8	125028331	C	T	C125028331T	WASHC5	NM_014846.4(WASHC5):c.3423+289G>A	noncoding	Benign
8	125032239	A	T	A125032239T	WASHC5	NM_014846.4(WASHC5):c.3335+2T>A	noncoding	Pathogenic
8	125032257	C	T	C125032257T	WASHC5	NM_014846.4(WASHC5):c.3319G>A:p.Val1107Met	coding	Benign/Likely_benign
8	125032285	C	T	C125032285T	WASHC5	NM_014846.4(WASHC5):c.3291G>A:p.Ala1097=	coding	Benign
8	125032351	T	C	T125032351C	WASHC5	NM_014846.4(WASHC5):c.3225A>G:p.Pro1075=	coding	Benign
8	125037201	T	C	T125037201C	WASHC5	NM_014846.4(WASHC5):c.3181+36A>G	noncoding	Benign
8	125038637	C	T	C125038637T	WASHC5	NM_014846.4(WASHC5):c.3084+193G>A	noncoding	Benign
8	125039258	A	C	A125039258C	WASHC5	NM_014846.4(WASHC5):c.2955-299T>G	noncoding	Benign
8	125040108	T	C	T125040108C	WASHC5	NM_014846.4(WASHC5):c.2851-210A>G	noncoding	Benign
8	125040246	T	C	T125040246C	WASHC5	NM_014846.4(WASHC5):c.2851-348A>G	noncoding	Benign
8	125043911	A	G	A125043911G	WASHC5	NM_014846.4(WASHC5):c.2771-7T>C	noncoding	Benign/Likely_benign
8	125047226	G	A	G125047226A	WASHC5	NM_014846.4(WASHC5):c.2485C>T:p.Leu829=	coding	Benign
8	125050560	G	T	G125050560T	WASHC5	NM_014846.4(WASHC5):c.2199+4C>A	noncoding	Benign
8	125050663	C	T	C125050663T	WASHC5	NM_014846.4(WASHC5):c.2100G>A:p.Val700=	coding	Benign
8	125055601	C	G	C125055601G	WASHC5	NM_014846.4(WASHC5):c.2087G>C:p.Gly696Ala	coding	Pathogenic
8	125055955	T	C	T125055955C	WASHC5	NM_014846.4(WASHC5):c.2017-284A>G	noncoding	Benign
8	125056631	T	G	T125056631G	WASHC5	NM_014846.4(WASHC5):c.2016+46A>C	noncoding	Benign
8	125056725	C	T	C125056725T	WASHC5	NM_014846.4(WASHC5):c.1968G>A:p.Leu656=	coding	Benign
8	125056817	C	A	C125056817A	WASHC5	NM_014846.4(WASHC5):c.1876G>T:p.Val626Phe	coding	Pathogenic
8	125057574	C	A	C125057574A	WASHC5	NM_014846.4(WASHC5):c.1857G>T:p.Leu619Phe	coding	Pathogenic
8	125057574	C	G	C125057574G	WASHC5	NM_014846.4(WASHC5):c.1857G>C:p.Leu619Phe	coding	Pathogenic
8	125057613	G	A	G125057613A	WASHC5	NM_014846.4(WASHC5):c.1818C>T:p.Pro606=	coding	Benign/Likely_benign
8	125057660	A	G	A125057660G	WASHC5	NM_014846.4(WASHC5):c.1771T>C:p.Ser591Pro	coding	Pathogenic/Likely_pathogenic
8	125059210	T	C	T125059210C	WASHC5	NM_014846.4(WASHC5):c.1764+12A>G	noncoding	Benign
8	125059459	G	A	G125059459A	WASHC5	NM_014846.4(WASHC5):c.1605C>T:p.Ile535=	coding	Benign
8	125061192	T	C	T125061192C	WASHC5	NM_014846.4(WASHC5):c.1411A>G:p.Asn471Asp	coding	Pathogenic
8	125063515	T	C	T125063515C	WASHC5	NM_014846.4(WASHC5):c.1408+7A>G	noncoding	Benign
8	125063584	C	T	C125063584T	WASHC5	NM_014846.4(WASHC5):c.1346G>A:p.Arg449Gln	coding	Benign
8	125067455	C	G	C125067455G	WASHC5	NM_014846.4(WASHC5):c.1278+137G>C	noncoding	Benign
8	125067530	A	T	A125067530T	WASHC5	NM_014846.4(WASHC5):c.1278+62T>A	noncoding	Benign
8	125067625	T	C	T125067625C	WASHC5	NM_014846.4(WASHC5):c.1245A>G:p.Leu415=	coding	Benign
8	125067683	T	C	T125067683C	WASHC5	NM_014846.4(WASHC5):c.1187A>G:p.Lys396Arg	coding	Benign
8	125067727	C	T	C125067727T	WASHC5	NM_014846.4(WASHC5):c.1151-8G>A	noncoding	Benign
8	125073274	T	C	T125073274C	WASHC5	NM_014846.4(WASHC5):c.1029A>G:p.Gln343=	coding	Benign
8	125073344	G	A	G125073344A	WASHC5	NM_014846.4(WASHC5):c.979-20C>T	noncoding	Benign
8	125075109	T	G	T125075109G	WASHC5	NM_014846.4(WASHC5):c.867A>C:p.Val289=	coding	Benign
8	125076480	C	T	C125076480T	WASHC5	NM_014846.4(WASHC5):c.732G>A:p.Pro244=	coding	Benign/Likely_benign
8	125078767	G	A	G125078767A	WASHC5	NM_014846.4(WASHC5):c.682C>T:p.Arg228Ter	coding	Pathogenic
8	125078794	C	T	C125078794T	WASHC5	NM_014846.4(WASHC5):c.655G>A:p.Glu219Lys	coding	Benign
8	125078852	T	C	T125078852C	WASHC5	NM_014846.4(WASHC5):c.597A>G:p.Pro199=	coding	Benign
8	125078923	G	A	G125078923A	WASHC5	NM_014846.4(WASHC5):c.526C>T:p.Arg176Ter	coding	Pathogenic
8	125081668	G	A	G125081668A	WASHC5	NM_014846.4(WASHC5):c.511C>T:p.Arg171Ter	coding	Pathogenic
8	125082372	T	C	T125082372C	WASHC5	NM_014846.4(WASHC5):c.417+11A>G	noncoding	Benign
8	125082486	T	C	T125082486C	WASHC5	NM_014846.4(WASHC5):c.333-19A>G	noncoding	Benign
8	125082487	G	A	G125082487A	WASHC5	NM_014846.4(WASHC5):c.333-20C>T	noncoding	Benign
8	125083213	G	A	G125083213A	WASHC5	NM_014846.4(WASHC5):c.232C>T:p.Gln78Ter	coding	Pathogenic
8	125083261	G	A	G125083261A	WASHC5	NM_014846.4(WASHC5):c.187-3C>T	noncoding	Benign
8	125083696	C	T	C125083696T	WASHC5	NM_014846.4(WASHC5):c.186+17G>A	noncoding	Benign
8	125083887	A	G	A125083887G	WASHC5	NM_014846.4(WASHC5):c.12T>C:p.Phe4=	coding	Benign/Likely_benign
8	125084032	C	A	C125084032A	WASHC5	NM_014846.4(WASHC5):c.-124-10G>T	noncoding	Benign
8	125084353	T	C	T125084353C	WASHC5	NM_014846.4(WASHC5):c.-124-331A>G	noncoding	Benign
8	125091668	A	G	A125091668G	WASHC5	NM_014846.4(WASHC5):c.-178T>C	noncoding	Benign
8	125091731	C	T	C125091731T	WASHC5	NM_014846.4(WASHC5):c.-241G>A	noncoding	Benign
8	125091735	G	C	G125091735C	WASHC5	NM_014846.4(WASHC5):c.-245C>G	noncoding	Benign
8	125091743	C	T	C125091743T	WASHC5	NM_014846.4(WASHC5):c.-253G>A	noncoding	Benign
8	125182215	T	G	T125182215G	NSMCE2	NM_173685.4(NSMCE2):c.377T>G:p.Phe126Cys	coding	Benign
8	125182232	C	T	C125182232T	NSMCE2	NM_173685.4(NSMCE2):c.394C>T:p.Gln132Ter	coding	Pathogenic
8	125357283	C	T	C125357283T	NSMCE2	NM_173685.4(NSMCE2):c.483C>T:p.Thr161=	coding	Benign
8	125436255	C	T	C125436255T	TRIB1	NM_025195.4(TRIB1):c.903C>T:p.Phe301=	coding	Benign
8	125436432	G	T	G125436432T	TRIB1	NM_025195.4(TRIB1):c.1080G>T:p.Glu360Asp	coding	Benign
8	127738281	T	C	T127738281C	MYC	NM_002467.6(MYC):c.64T>C:p.Phe22Leu	coding	Benign
8	127738361	G	A	G127738361A	MYC	NM_002467.6(MYC):c.144G>A:p.Gln48=	coding	Benign
8	127738379	G	C	G127738379C	MYC	NM_002467.6(MYC):c.162G>C:p.Glu54Asp	coding	Pathogenic
8	127738431	C	T	C127738431T	MYC	NM_002467.6(MYC):c.214C>T:p.Pro72Ser	coding	Pathogenic
8	127738437	C	G	C127738437G	MYC	NM_002467.6(MYC):c.220C>G:p.Pro74Ala	coding	Pathogenic
8	127738519	A	C	A127738519C	MYC	NM_002467.6(MYC):c.302A>C:p.Asn101Thr	coding	Pathogenic/Likely_pathogenic
8	127740678	C	T	C127740678T	MYC	NM_002467.6(MYC):c.1085C>T:p.Ser362Phe	coding	Benign
8	129750078	A	G	A129750078G	GSDMC	NM_031415.3(GSDMC):c.1125T>C:p.Gly375=	coding	Benign
8	129765749	C	T	C129765749T	GSDMC	NM_031415.3(GSDMC):c.449G>A:p.Arg150Lys	coding	Benign
8	129777428	C	T	C129777428T	GSDMC	NM_031415.3(GSDMC):c.160G>A:p.Asp54Asn	coding	Benign
8	130169025	C	T	C130169025T	ASAP1	NM_018482.4(ASAP1):c.789G>A:p.Gln263=	coding	Benign
8	130780534	A	G	A130780534G	ADCY8	NM_001115.3(ADCY8):c.3612T>C:p.Asn1204=	coding	Benign
8	130780564	C	T	C130780564T	ADCY8	NM_001115.3(ADCY8):c.3582G>A:p.Ala1194=	coding	Benign
8	130800510	C	T	C130800510T	ADCY8	NM_001115.3(ADCY8):c.2976G>A:p.Ala992=	coding	Benign
8	131039389	G	A	G131039389A	ADCY8	NM_001115.3(ADCY8):c.945C>T:p.Val315=	coding	Benign
8	132121114	C	T	C132121114T	KCNQ3	NM_004519.4(KCNQ3):c.*8148G>A	noncoding	Benign
8	132121540	A	T	A132121540T	KCNQ3	NM_004519.4(KCNQ3):c.*7722T>A	noncoding	Benign/Likely_benign
8	132121573	T	C	T132121573C	KCNQ3	NM_004519.4(KCNQ3):c.*7689A>G	noncoding	Benign/Likely_benign
8	132121756	G	A	G132121756A	KCNQ3	NM_004519.4(KCNQ3):c.*7506C>T	noncoding	Benign
8	132121758	G	C	G132121758C	KCNQ3	NM_004519.4(KCNQ3):c.*7504C>G	noncoding	Benign/Likely_benign
8	132121798	G	T	G132121798T	KCNQ3	NM_004519.4(KCNQ3):c.*7464C>A	noncoding	Benign/Likely_benign
8	132121801	C	T	C132121801T	KCNQ3	NM_004519.4(KCNQ3):c.*7461G>A	noncoding	Benign
8	132121849	C	G	C132121849G	KCNQ3	NM_004519.4(KCNQ3):c.*7413G>C	noncoding	Benign/Likely_benign
8	132121891	A	C	A132121891C	KCNQ3	NM_004519.4(KCNQ3):c.*7371T>G	noncoding	Benign
8	132122041	G	A	G132122041A	KCNQ3	NM_004519.4(KCNQ3):c.*7221C>T	noncoding	Benign
8	132122048	C	T	C132122048T	KCNQ3	NM_004519.4(KCNQ3):c.*7214G>A	noncoding	Benign/Likely_benign
8	132122119	T	C	T132122119C	KCNQ3	NM_004519.4(KCNQ3):c.*7143A>G	noncoding	Benign
8	132122131	C	T	C132122131T	KCNQ3	NM_004519.4(KCNQ3):c.*7131G>A	noncoding	Benign
8	132122132	G	A	G132122132A	KCNQ3	NM_004519.4(KCNQ3):c.*7130C>T	noncoding	Benign
8	132122143	G	A	G132122143A	KCNQ3	NM_004519.4(KCNQ3):c.*7119C>T	noncoding	Benign
8	132122167	A	C	A132122167C	KCNQ3	NM_004519.4(KCNQ3):c.*7095T>G	noncoding	Benign
8	132122187	T	C	T132122187C	KCNQ3	NM_004519.4(KCNQ3):c.*7075A>G	noncoding	Benign
8	132122229	A	G	A132122229G	KCNQ3	NM_004519.4(KCNQ3):c.*7033T>C	noncoding	Benign
8	132122306	T	C	T132122306C	KCNQ3	NM_004519.4(KCNQ3):c.*6956A>G	noncoding	Benign
8	132122388	G	C	G132122388C	KCNQ3	NM_004519.4(KCNQ3):c.*6874C>G	noncoding	Benign
8	132122450	T	C	T132122450C	KCNQ3	NM_004519.4(KCNQ3):c.*6812A>G	noncoding	Benign
8	132122630	A	G	A132122630G	KCNQ3	NM_004519.4(KCNQ3):c.*6632T>C	noncoding	Benign
8	132122922	C	T	C132122922T	KCNQ3	NM_004519.4(KCNQ3):c.*6340G>A	noncoding	Benign
8	132122980	T	A	T132122980A	KCNQ3	NM_004519.4(KCNQ3):c.*6282A>T	noncoding	Benign
8	132123024	A	G	A132123024G	KCNQ3	NM_004519.4(KCNQ3):c.*6238T>C	noncoding	Benign
8	132123063	G	A	G132123063A	KCNQ3	NM_004519.4(KCNQ3):c.*6199C>T	noncoding	Benign/Likely_benign
8	132123088	T	C	T132123088C	KCNQ3	NM_004519.4(KCNQ3):c.*6174A>G	noncoding	Benign/Likely_benign
8	132123297	A	G	A132123297G	KCNQ3	NM_004519.4(KCNQ3):c.*5965T>C	noncoding	Benign/Likely_benign
8	132123330	T	G	T132123330G	KCNQ3	NM_004519.4(KCNQ3):c.*5932A>C	noncoding	Benign
8	132123500	C	T	C132123500T	KCNQ3	NM_004519.4(KCNQ3):c.*5762G>A	noncoding	Benign/Likely_benign
8	132123543	G	A	G132123543A	KCNQ3	NM_004519.4(KCNQ3):c.*5719C>T	noncoding	Benign
8	132123558	G	A	G132123558A	KCNQ3	NM_004519.4(KCNQ3):c.*5704C>T	noncoding	Benign/Likely_benign
8	132123684	T	C	T132123684C	KCNQ3	NM_004519.4(KCNQ3):c.*5578A>G	noncoding	Benign/Likely_benign
8	132123780	T	C	T132123780C	KCNQ3	NM_004519.4(KCNQ3):c.*5482A>G	noncoding	Benign/Likely_benign
8	132124007	A	G	A132124007G	KCNQ3	NM_004519.4(KCNQ3):c.*5255T>C	noncoding	Benign/Likely_benign
8	132124244	G	C	G132124244C	KCNQ3	NM_004519.4(KCNQ3):c.*5018C>G	noncoding	Benign/Likely_benign
8	132124258	C	T	C132124258T	KCNQ3	NM_004519.4(KCNQ3):c.*5004G>A	noncoding	Benign
8	132124280	T	A	T132124280A	KCNQ3	NM_004519.4(KCNQ3):c.*4982A>T	noncoding	Benign
8	132124304	T	C	T132124304C	KCNQ3	NM_004519.4(KCNQ3):c.*4958A>G	noncoding	Benign
8	132124315	C	A	C132124315A	KCNQ3	NM_004519.4(KCNQ3):c.*4947G>T	noncoding	Benign
8	132124315	C	T	C132124315T	KCNQ3	NM_004519.4(KCNQ3):c.*4947G>A	noncoding	Benign
8	132124445	C	T	C132124445T	KCNQ3	NM_004519.4(KCNQ3):c.*4817G>A	noncoding	Benign/Likely_benign
8	132124526	C	T	C132124526T	KCNQ3	NM_004519.4(KCNQ3):c.*4736G>A	noncoding	Benign/Likely_benign
8	132124983	G	A	G132124983A	KCNQ3	NM_004519.4(KCNQ3):c.*4279C>T	noncoding	Benign
8	132125004	A	G	A132125004G	KCNQ3	NM_004519.4(KCNQ3):c.*4258T>C	noncoding	Benign/Likely_benign
8	132125019	T	A	T132125019A	KCNQ3	NM_004519.4(KCNQ3):c.*4243A>T	noncoding	Benign
8	132125137	A	G	A132125137G	KCNQ3	NM_004519.4(KCNQ3):c.*4125T>C	noncoding	Benign
8	132125219	G	A	G132125219A	KCNQ3	NM_004519.4(KCNQ3):c.*4043C>T	noncoding	Benign/Likely_benign
8	132125226	C	T	C132125226T	KCNQ3	NM_004519.4(KCNQ3):c.*4036G>A	noncoding	Benign
8	132125285	C	T	C132125285T	KCNQ3	NM_004519.4(KCNQ3):c.*3977G>A	noncoding	Benign
8	132125305	T	C	T132125305C	KCNQ3	NM_004519.4(KCNQ3):c.*3957A>G	noncoding	Benign/Likely_benign
8	132125365	G	C	G132125365C	KCNQ3	NM_004519.4(KCNQ3):c.*3897C>G	noncoding	Benign/Likely_benign
8	132125439	C	T	C132125439T	KCNQ3	NM_004519.4(KCNQ3):c.*3823G>A	noncoding	Benign/Likely_benign
8	132125531	C	A	C132125531A	KCNQ3	NM_004519.4(KCNQ3):c.*3731G>T	noncoding	Benign/Likely_benign
8	132125561	C	T	C132125561T	KCNQ3	NM_004519.4(KCNQ3):c.*3701G>A	noncoding	Benign/Likely_benign
8	132125665	C	T	C132125665T	KCNQ3	NM_004519.4(KCNQ3):c.*3597G>A	noncoding	Benign
8	132125718	T	C	T132125718C	KCNQ3	NM_004519.4(KCNQ3):c.*3544A>G	noncoding	Benign/Likely_benign
8	132125959	G	T	G132125959T	KCNQ3	NM_004519.4(KCNQ3):c.*3303C>A	noncoding	Benign/Likely_benign
8	132126097	C	A	C132126097A	KCNQ3	NM_004519.4(KCNQ3):c.*3165G>T	noncoding	Benign/Likely_benign
8	132126227	T	C	T132126227C	KCNQ3	NM_004519.4(KCNQ3):c.*3035A>G	noncoding	Benign
8	132126230	T	C	T132126230C	KCNQ3	NM_004519.4(KCNQ3):c.*3032A>G	noncoding	Benign
8	132126386	G	C	G132126386C	KCNQ3	NM_004519.4(KCNQ3):c.*2876C>G	noncoding	Benign/Likely_benign
8	132126415	A	G	A132126415G	KCNQ3	NM_004519.4(KCNQ3):c.*2847T>C	noncoding	Benign/Likely_benign
8	132126787	G	A	G132126787A	KCNQ3	NM_004519.4(KCNQ3):c.*2475C>T	noncoding	Benign
8	132126869	T	C	T132126869C	KCNQ3	NM_004519.4(KCNQ3):c.*2393A>G	noncoding	Benign
8	132126991	A	T	A132126991T	KCNQ3	NM_004519.4(KCNQ3):c.*2271T>A	noncoding	Benign/Likely_benign
8	132127096	T	C	T132127096C	KCNQ3	NM_004519.4(KCNQ3):c.*2166A>G	noncoding	Benign/Likely_benign
8	132127125	G	A	G132127125A	KCNQ3	NM_004519.4(KCNQ3):c.*2137C>T	noncoding	Benign
8	132127252	A	T	A132127252T	KCNQ3	NM_004519.4(KCNQ3):c.*2010T>A	noncoding	Benign/Likely_benign
8	132127325	T	C	T132127325C	KCNQ3	NM_004519.4(KCNQ3):c.*1937A>G	noncoding	Benign
8	132127508	G	A	G132127508A	KCNQ3	NM_004519.4(KCNQ3):c.*1754C>T	noncoding	Benign
8	132127565	G	C	G132127565C	KCNQ3	NM_004519.4(KCNQ3):c.*1697C>G	noncoding	Benign/Likely_benign
8	132127680	G	A	G132127680A	KCNQ3	NM_004519.4(KCNQ3):c.*1582C>T	noncoding	Benign/Likely_benign
8	132127855	T	G	T132127855G	KCNQ3	NM_004519.4(KCNQ3):c.*1407A>C	noncoding	Benign
8	132127879	G	A	G132127879A	KCNQ3	NM_004519.4(KCNQ3):c.*1383C>T	noncoding	Benign/Likely_benign
8	132128103	C	T	C132128103T	KCNQ3	NM_004519.4(KCNQ3):c.*1159G>A	noncoding	Benign/Likely_benign
8	132128212	T	G	T132128212G	KCNQ3	NM_004519.4(KCNQ3):c.*1050A>C	noncoding	Benign
8	132128836	G	C	G132128836C	KCNQ3	NM_004519.4(KCNQ3):c.*426C>G	noncoding	Benign
8	132128837	G	T	G132128837T	KCNQ3	NM_004519.4(KCNQ3):c.*425C>A	noncoding	Benign
8	132128866	T	C	T132128866C	KCNQ3	NM_004519.4(KCNQ3):c.*396A>G	noncoding	Benign
8	132129532	C	T	C132129532T	KCNQ3	NM_004519.4(KCNQ3):c.2349G>A:p.Thr783=	coding	Benign/Likely_benign
8	132129575	G	T	G132129575T	KCNQ3	NM_004519.4(KCNQ3):c.2306C>A:p.Pro769His	coding	Benign/Likely_benign
8	132129619	G	A	G132129619A	KCNQ3	NM_004519.4(KCNQ3):c.2262C>T:p.Leu754=	coding	Benign/Likely_benign
8	132129713	C	T	C132129713T	KCNQ3	NM_004519.4(KCNQ3):c.2168G>A:p.Gly723Glu	coding	Benign
8	132129784	G	A	G132129784A	KCNQ3	NM_004519.4(KCNQ3):c.2097C>T:p.Phe699=	coding	Benign
8	132129810	C	T	C132129810T	KCNQ3	NM_004519.4(KCNQ3):c.2071G>A:p.Gly691Ser	coding	Benign/Likely_benign
8	132129923	T	C	T132129923C	KCNQ3	NM_004519.4(KCNQ3):c.1958A>G:p.Gln653Arg	coding	Benign/Likely_benign
8	132129934	C	T	C132129934T	KCNQ3	NM_004519.4(KCNQ3):c.1947G>A:p.Arg649=	coding	Benign/Likely_benign
8	132129964	G	A	G132129964A	KCNQ3	NM_004519.4(KCNQ3):c.1917C>T:p.Leu639=	coding	Benign/Likely_benign
8	132130063	G	C	G132130063C	KCNQ3	NM_004519.4(KCNQ3):c.1885-67C>G	noncoding	Benign
8	132134369	G	A	G132134369A	KCNQ3	NM_004519.4(KCNQ3):c.1720C>T:p.Pro574Ser	coding	Benign/Likely_benign
8	132134382	A	G	A132134382G	KCNQ3	NM_004519.4(KCNQ3):c.1707T>C:p.Asp569=	coding	Benign
8	132134405	G	A	G132134405A	KCNQ3	NM_004519.4(KCNQ3):c.1701-17C>T	noncoding	Benign
8	132137856	C	T	C132137856T	KCNQ3	NM_004519.4(KCNQ3):c.1700+29G>A	noncoding	Benign
8	132137882	C	T	C132137882T	KCNQ3	NM_004519.4(KCNQ3):c.1700+3G>A	noncoding	Benign/Likely_benign
8	132137920	G	A	G132137920A	KCNQ3	NM_004519.4(KCNQ3):c.1665C>T:p.Leu555=	coding	Benign
8	132137959	A	G	A132137959G	KCNQ3	NM_004519.4(KCNQ3):c.1626T>C:p.Asp542=	coding	Benign
8	132140061	C	T	C132140061T	KCNQ3	NM_004519.4(KCNQ3):c.1568+15G>A	noncoding	Benign
8	132140062	C	T	C132140062T	KCNQ3	NM_004519.4(KCNQ3):c.1568+14G>A	noncoding	Benign/Likely_benign
8	132140064	T	C	T132140064C	KCNQ3	NM_004519.4(KCNQ3):c.1568+12A>G	noncoding	Benign
8	132140093	G	A	G132140093A	KCNQ3	NM_004519.4(KCNQ3):c.1551C>T:p.Ala517=	coding	Benign/Likely_benign
8	132140873	T	C	T132140873C	KCNQ3	NM_004519.4(KCNQ3):c.1465+256A>G	noncoding	Benign
8	132163199	A	G	A132163199G	KCNQ3	NM_004519.4(KCNQ3):c.1262+269T>C	noncoding	Benign
8	132163489	T	C	T132163489C	KCNQ3	NM_004519.4(KCNQ3):c.1241A>G:p.Glu414Gly	coding	Benign
8	132163510	G	A	G132163510A	KCNQ3	NM_004519.4(KCNQ3):c.1236-16C>T	noncoding	Benign
8	132163558	G	A	G132163558A	KCNQ3	NM_004519.4(KCNQ3):c.1236-64C>T	noncoding	Benign
8	132163628	G	A	G132163628A	KCNQ3	NM_004519.4(KCNQ3):c.1236-134C>T	noncoding	Benign
8	132170296	T	C	T132170296C	KCNQ3	NM_004519.4(KCNQ3):c.1235+38A>G	noncoding	Benign
8	132170427	G	A	G132170427A	KCNQ3	NM_004519.4(KCNQ3):c.1142C>T:p.Ala381Val	coding	Pathogenic
8	132172667	G	C	G132172667C	KCNQ3	NM_004519.4(KCNQ3):c.1071C>G:p.Leu357=	coding	Benign
8	132172679	G	A	G132172679A	KCNQ3	NM_004519.4(KCNQ3):c.1059C>T:p.Ser353=	coding	Benign
8	132174083	T	C	T132174083C	KCNQ3	NM_004519.4(KCNQ3):c.1044+156A>G	noncoding	Benign
8	132174295	G	A	G132174295A	KCNQ3	NM_004519.4(KCNQ3):c.988C>T:p.Arg330Cys	coding	Pathogenic/Likely_pathogenic
8	132174333	A	G	A132174333G	KCNQ3	NM_004519.4(KCNQ3):c.950T>C:p.Ile317Thr	coding	Pathogenic
8	132174335	G	A	G132174335A	KCNQ3	NM_004519.4(KCNQ3):c.948C>T:p.Thr316=	coding	Benign/Likely_benign
8	132174457	C	T	C132174457T	KCNQ3	NM_004519.4(KCNQ3):c.934-108G>A	noncoding	Benign
8	132174577	G	A	G132174577A	KCNQ3	NM_004519.4(KCNQ3):c.934-228C>T	noncoding	Benign
8	132175324	T	G	T132175324G	KCNQ3	NM_004519.4(KCNQ3):c.933+129A>C	noncoding	Benign
8	132175325	T	A	T132175325A	KCNQ3	NM_004519.4(KCNQ3):c.933+128A>T	noncoding	Benign
8	132175339	C	T	C132175339T	KCNQ3	NM_004519.4(KCNQ3):c.933+114G>A	noncoding	Benign
8	132175428	A	G	A132175428G	KCNQ3	NM_004519.4(KCNQ3):c.933+25T>C	noncoding	Benign
8	132175457	C	A	C132175457A	KCNQ3	NM_004519.4(KCNQ3):c.929G>T:p.Gly310Val	coding	Pathogenic
8	132175461	A	G	A132175461G	KCNQ3	NM_004519.4(KCNQ3):c.925T>C:p.Trp309Arg	coding	Pathogenic
8	132175472	T	C	T132175472C	KCNQ3	NM_004519.4(KCNQ3):c.914A>G:p.Asp305Gly	coding	Pathogenic
8	132175491	C	T	C132175491T	KCNQ3	NM_004519.4(KCNQ3):c.895G>A:p.Glu299Lys	coding	Pathogenic
8	132175552	A	G	A132175552G	KCNQ3	NM_004519.4(KCNQ3):c.834T>C:p.Leu278=	coding	Benign/Likely_benign
8	132175625	T	G	T132175625G	KCNQ3	NM_004519.4(KCNQ3):c.778-17A>C	noncoding	Benign
8	132175811	A	C	A132175811C	KCNQ3	NM_004519.4(KCNQ3):c.778-203T>G	noncoding	Benign
8	132179851	C	G	C132179851G	KCNQ3	NM_004519.4(KCNQ3):c.777+306G>C	noncoding	Benign
8	132179932	C	G	C132179932G	KCNQ3	NM_004519.4(KCNQ3):c.777+225G>C	noncoding	Benign
8	132179937	C	G	C132179937G	KCNQ3	NM_004519.4(KCNQ3):c.777+220G>C	noncoding	Benign
8	132180022	T	C	T132180022C	KCNQ3	NM_004519.4(KCNQ3):c.777+135A>G	noncoding	Benign
8	132180036	G	A	G132180036A	KCNQ3	NM_004519.4(KCNQ3):c.777+121C>T	noncoding	Benign
8	132180202	A	G	A132180202G	KCNQ3	NM_004519.4(KCNQ3):c.732T>C:p.Gly244=	coding	Benign
8	132180245	C	T	C132180245T	KCNQ3	NM_004519.4(KCNQ3):c.689G>A:p.Arg230His	coding	Pathogenic/Likely_pathogenic
8	132180246	G	A	G132180246A	KCNQ3	NM_004519.4(KCNQ3):c.688C>T:p.Arg230Cys	coding	Pathogenic/Likely_pathogenic
8	132180246	G	T	G132180246T	KCNQ3	NM_004519.4(KCNQ3):c.688C>A:p.Arg230Ser	coding	Pathogenic
8	132180255	G	A	G132180255A	KCNQ3	NM_004519.4(KCNQ3):c.679C>T:p.Arg227Ter	coding	Pathogenic
8	132180274	A	G	A132180274G	KCNQ3	NM_004519.4(KCNQ3):c.660T>C:p.Asn220=	coding	Benign
8	132180631	G	A	G132180631A	KCNQ3	NM_004519.4(KCNQ3):c.605-302C>T	noncoding	Benign
8	132447302	A	G	A132447302G	KCNQ3	NM_004519.4(KCNQ3):c.386+32845T>C	noncoding	Benign
8	132480293	C	T	C132480293T	KCNQ3	NM_004519.4(KCNQ3):c.240G>A:p.Arg80=	coding	Benign
8	132480539	C	G	C132480539G	KCNQ3	NM_004519.4(KCNQ3):c.-7G>C	noncoding	Benign
8	132480597	G	A	G132480597A	KCNQ3	NM_004519.4(KCNQ3):c.-65C>T	noncoding	Benign/Likely_benign
8	132480617	G	A	G132480617A	KCNQ3	NM_004519.4(KCNQ3):c.-85C>T	noncoding	Benign/Likely_benign
8	132480674	C	A	C132480674A	KCNQ3	NM_004519.4(KCNQ3):c.-142G>T	noncoding	Benign
8	132480850	C	T	C132480850T	KCNQ3	NM_004519.4(KCNQ3):c.-318G>A	noncoding	Benign
8	132481036	T	C	T132481036C	KCNQ3	NM_004519.4(KCNQ3):c.-504A>G	noncoding	Benign
8	132481051	G	C	G132481051C	KCNQ3	NM_004519.4(KCNQ3):c.-519C>G	noncoding	Benign
8	132481088	A	C	A132481088C	KCNQ3	NM_004519.4(KCNQ3):c.-556T>G	noncoding	Benign
8	132572310	A	G	A132572310G	LRRC6	NM_012472.6(LRRC6):c.1397T>C:p.Ile466Thr	coding	Benign/Likely_benign
8	132572364	A	G	A132572364G	LRRC6	NM_012472.6(LRRC6):c.1343T>C:p.Ile448Thr	coding	Benign
8	132583693	C	T	C132583693T	LRRC6	NM_012472.6(LRRC6):c.1226+1G>A	noncoding	Pathogenic
8	132622598	T	C	T132622598C	LRRC6	NM_012472.6(LRRC6):c.914+13A>G	noncoding	Benign/Likely_benign
8	132622662	G	T	G132622662T	LRRC6	NM_012472.6(LRRC6):c.863C>A:p.Pro288His	coding	Benign
8	132625413	G	A	G132625413A	LRRC6	NM_012472.6(LRRC6):c.695C>T:p.Thr232Ile	coding	Benign
8	132625426	G	A	G132625426A	LRRC6	NM_012472.6(LRRC6):c.682C>T:p.Gln228Ter	coding	Pathogenic
8	132632760	G	T	G132632760T	LRRC6	NM_012472.6(LRRC6):c.633C>A:p.Tyr211Ter	coding	Pathogenic
8	132632784	G	A	G132632784A	LRRC6	NM_012472.6(LRRC6):c.609C>T:p.Asn203=	coding	Benign
8	132632819	G	A	G132632819A	LRRC6	NM_012472.6(LRRC6):c.574C>T:p.Gln192Ter	coding	Pathogenic
8	132632831	G	A	G132632831A	LRRC6	NM_012472.6(LRRC6):c.562C>T:p.Gln188Ter	coding	Pathogenic
8	132632855	G	A	G132632855A	LRRC6	NM_012472.6(LRRC6):c.538C>T:p.Arg180Ter	coding	Pathogenic
8	132632957	C	G	C132632957G	LRRC6	NM_012472.6(LRRC6):c.436G>C:p.Asp146His	coding	Pathogenic
8	132638081	G	A	G132638081A	LRRC6	NM_012472.6(LRRC6):c.283C>T:p.Leu95=	coding	Benign/Likely_benign
8	132656866	C	G	C132656866G	LRRC6	NM_012472.6(LRRC6):c.220G>C:p.Ala74Pro	coding	Pathogenic
8	132661507	C	T	C132661507T	LRRC6	NM_012472.6(LRRC6):c.131G>A:p.Arg44Gln	coding	Benign/Likely_benign
8	132675483	C	T	C132675483T	LRRC6	NM_012472.6(LRRC6):c.10+1G>A	noncoding	Pathogenic
8	132804667	A	G	A132804667G	PHF20L1	NM_016018.5(PHF20L1):c.774A>G:p.Thr258=	coding	Benign
8	132867048	G	A	G132867048A	TG	NM_003235.5(TG):c.48G>A:p.Trp16Ter	coding	Pathogenic
8	132867060	T	C	T132867060C	TG	NM_003235.5(TG):c.60T>C:p.Asn20=	coding	Benign
8	132871345	C	G	C132871345G	TG	NM_003235.5(TG):c.275-3C>G	noncoding	Pathogenic
8	132873222	G	A	G132873222A	TG	NM_003235.5(TG):c.638+1G>A	coding	Pathogenic
8	132882609	C	T	C132882609T	TG	NM_003235.5(TG):c.886C>T:p.Arg296Ter	coding	Pathogenic
8	132886704	C	T	C132886704T	TG	NM_003235.5(TG):c.1332C>T:p.Ile444=	coding	Benign/Likely_benign
8	132887193	C	T	C132887193T	TG	NM_003235.5(TG):c.1821C>T:p.Thr607=	coding	Benign/Likely_benign
8	132887262	A	G	A132887262G	TG	NM_003235.5(TG):c.1890A>G:p.Gln630=	coding	Benign/Likely_benign
8	132888007	T	G	T132888007G	TG	NM_003235.5(TG):c.2200T>G:p.Ser734Ala	coding	Benign
8	132888141	T	C	T132888141C	TG	NM_003235.5(TG):c.2334T>C:p.Pro778=	coding	Benign
8	132888250	G	T	G132888250T	TG	NM_003235.5(TG):c.2443G>T:p.Gly815Ter	coding	Pathogenic
8	132888327	T	C	T132888327C	TG	NM_003235.5(TG):c.2520T>C:p.Pro840=	coding	Benign
8	132888388	A	G	A132888388G	TG	NM_003235.5(TG):c.2581A>G:p.Ile861Val	coding	Benign
8	132893787	G	A	G132893787A	TG	NM_003235.5(TG):c.2859G>A:p.Leu953=	coding	Benign
8	132897729	A	G	A132897729G	TG	NM_003235.5(TG):c.3082A>G:p.Met1028Val	coding	Benign
8	132898216	C	A	C132898216A	TG	NM_003235.5(TG):c.3187C>A:p.Leu1063Met	coding	Benign/Likely_benign
8	132898257	A	C	A132898257C	TG	NM_003235.5(TG):c.3217+11A>C	noncoding	Benign
8	132898809	T	C	T132898809C	TG	NM_003235.5(TG):c.3229T>C:p.Cys1077Arg	coding	Pathogenic
8	132900257	G	A	G132900257A	TG	NM_003235.5(TG):c.3351G>A:p.Leu1117=	coding	Benign
8	132901413	A	G	A132901413G	TG	NM_003235.5(TG):c.3494A>G:p.Tyr1165Cys	coding	Benign
8	132906718	C	T	C132906718T	TG	NM_003235.5(TG):c.3665C>T:p.Ser1222Leu	coding	Benign/Likely_benign
8	132906786	T	C	T132906786C	TG	NM_003235.5(TG):c.3733T>C:p.Cys1245Arg	coding	Pathogenic
8	132908166	T	C	T132908166C	TG	NM_003235.5(TG):c.3848-20T>C	noncoding	Benign
8	132908244	G	A	G132908244A	TG	NM_003235.5(TG):c.3906G>A:p.Pro1302=	coding	Benign
8	132908273	A	G	A132908273G	TG	NM_003235.5(TG):c.3935A>G:p.Asp1312Gly	coding	Benign
8	132911373	G	A	G132911373A	TG	NM_003235.5(TG):c.4003-4G>A	noncoding	Benign
8	132913252	C	T	C132913252T	TG	NM_003235.5(TG):c.4365C>T:p.Asp1455=	coding	Benign/Likely_benign
8	132919490	C	T	C132919490T	TG	NM_003235.5(TG):c.4493C>T:p.Thr1498Met	coding	Benign/Likely_benign
8	132919503	T	C	T132919503C	TG	NM_003235.5(TG):c.4506T>C:p.Ala1502=	coding	Benign
8	132923397	C	T	C132923397T	TG	NM_003235.5(TG):c.4588C>T:p.Arg1530Ter	coding	Pathogenic
8	132941428	C	T	C132941428T	TG	NM_003235.5(TG):c.5119C>T:p.Pro1707Ser	coding	Benign
8	132941431	A	G	A132941431G	TG	NM_003235.5(TG):c.5122A>G:p.Ile1708Val	coding	Benign/Likely_benign
8	132941493	C	A	C132941493A	TG	NM_003235.5(TG):c.5184C>A:p.Cys1728Ter	coding	Pathogenic
8	132941495	A	C	A132941495C	TG	NM_003235.5(TG):c.5186A>C:p.Asp1729Ala	coding	Benign/Likely_benign
8	132948766	T	C	T132948766C	TG	NM_003235.5(TG):c.5234-10T>C	noncoding	Benign
8	132948912	A	G	A132948912G	TG	NM_003235.5(TG):c.5370A>G:p.Ile1790Met	coding	Benign/Likely_benign
8	132963038	G	A	G132963038A	TG	NM_003235.5(TG):c.5512G>A:p.Asp1838Asn	coding	Benign
8	132966551	C	A	C132966551A	TG	NM_003235.5(TG):c.5549-9C>A	noncoding	Benign
8	132967797	G	A	G132967797A	TG	NM_003235.5(TG):c.5690G>A:p.Cys1897Tyr	coding	Pathogenic
8	132967969	A	G	A132967969G	TG	NM_003235.5(TG):c.5862A>G:p.Lys1954=	coding	Benign
8	132969515	T	C	T132969515C	TG	NM_003235.5(TG):c.5921T>C:p.Met1974Thr	coding	Benign
8	132971804	T	A	T132971804A	TG	NM_003235.5(TG):c.5986T>A:p.Cys1996Ser	coding	Pathogenic
8	132971813	C	T	C132971813T	TG	NM_003235.5(TG):c.5995C>T:p.Arg1999Trp	coding	Benign
8	132971880	A	G	A132971880G	TG	NM_003235.5(TG):c.6055+7A>G	noncoding	Benign/Likely_benign
8	132972576	G	T	G132972576T	TG	NM_003235.5(TG):c.6056-22G>T	noncoding	Benign
8	132972749	C	A	C132972749A	TG	NM_003235.5(TG):c.6199+8C>A	noncoding	Benign
8	132983349	G	C	G132983349C	TG	NM_003235.5(TG):c.6200-1G>C	noncoding	Pathogenic
8	133011910	A	G	A133011910G	TG	NM_003235.5(TG):c.6272A>G:p.Asp2091Gly	coding	Benign/Likely_benign
8	133012033	C	T	C133012033T	TG	NM_003235.5(TG):c.6395C>T:p.Ser2132Leu	coding	Benign/Likely_benign
8	133017884	G	A	G133017884A	TG	NM_003235.5(TG):c.6669G>A:p.Lys2223=	coding	Benign
8	133017940	G	A	G133017940A	TG	NM_003235.5(TG):c.6725G>A:p.Arg2242His	coding	Pathogenic/Likely_pathogenic
8	133022098	C	G	C133022098G	TG	NM_003235.5(TG):c.6984C>G:p.Leu2328=	coding	Benign
8	133022121	G	A	G133022121A	TG	NM_003235.5(TG):c.7007G>A:p.Arg2336Gln	coding	Pathogenic
8	133022135	G	A	G133022135A	TG	NM_003235.5(TG):c.7021G>A:p.Gly2341Ser	coding	Pathogenic
8	133029907	G	A	G133029907A	TG	NM_003235.5(TG):c.7123G>A:p.Gly2375Arg	coding	Pathogenic
8	133029919	C	T	C133029919T	TG	NM_003235.5(TG):c.7135C>T:p.Arg2379Cys	coding	Benign
8	133095068	G	A	G133095068A	TG	NM_003235.5(TG):c.7264G>A:p.Ala2422Thr	coding	Benign
8	133096209	C	T	C133096209T	TG	NM_003235.5(TG):c.7408C>T:p.Leu2470=	coding	Benign
8	133096214	C	T	C133096214T	TG	NM_003235.5(TG):c.7413C>T:p.Ala2471=	coding	Benign
8	133096215	G	C	G133096215C	TG	NM_003235.5(TG):c.7414G>C:p.Val2472Leu	coding	Benign/Likely_benign
8	133096302	T	C	T133096302C	TG	NM_003235.5(TG):c.7501T>C:p.Trp2501Arg	coding	Benign
8	133113427	T	A	T133113427A	TG	NM_003235.5(TG):c.7578T>A:p.Phe2526Leu	coding	Benign
8	133113438	G	A	G133113438A	TG	NM_003235.5(TG):c.7589G>A:p.Arg2530Gln	coding	Benign
8	133113489	T	A	T133113489A	TG	NM_003235.5(TG):c.7640T>A:p.Leu2547Gln	coding	Benign/Likely_benign
8	133113514	C	T	C133113514T	TG	NM_003235.5(TG):c.7665C>T:p.Arg2555=	coding	Benign
8	133116701	A	G	A133116701G	TG	NM_003235.5(TG):c.7847A>G:p.Asn2616Ser	coding	Benign
8	133116701	A	T	A133116701T	TG	NM_003235.5(TG):c.7847A>T:p.Asn2616Ile	coding	Benign/Likely_benign
8	133131869	C	T	C133131869T	TG	NM_003235.5(TG):c.7920C>T:p.Tyr2640=	coding	Benign
8	133213085	G	A	G133213085A	CCN4	NM_003882.4(CCN4):c.291G>A:p.Arg97=	coding	Benign
8	133213091	C	T	C133213091T	CCN4	NM_003882.4(CCN4):c.297C>T:p.Leu99=	coding	Benign
8	133227461	C	T	C133227461T	CCN4	NM_003882.4(CCN4):c.855C>T:p.Phe285=	coding	Benign
8	133237584	A	G	A133237584G	NDRG1	NM_006096.3(NDRG1):c.*1294T>C	noncoding	Benign
8	133237743	C	T	C133237743T	NDRG1	NM_006096.3(NDRG1):c.*1135G>A	noncoding	Benign
8	133237922	A	G	A133237922G	NDRG1	NM_006096.3(NDRG1):c.*956T>C	noncoding	Benign
8	133238012	T	A	T133238012A	NDRG1	NM_006096.3(NDRG1):c.*866A>T	noncoding	Benign
8	133238044	A	T	A133238044T	NDRG1	NM_006096.3(NDRG1):c.*834T>A	noncoding	Benign
8	133238167	G	A	G133238167A	NDRG1	NM_006096.3(NDRG1):c.*711C>T	noncoding	Benign
8	133238187	C	T	C133238187T	NDRG1	NM_006096.3(NDRG1):c.*691G>A	noncoding	Benign
8	133238778	C	T	C133238778T	NDRG1	NM_006096.3(NDRG1):c.*100G>A	noncoding	Benign
8	133238809	G	A	G133238809A	NDRG1	NM_006096.3(NDRG1):c.*69C>T	noncoding	Benign
8	133241808	A	G	A133241808G	NDRG1	NM_006096.3(NDRG1):c.943+215T>C	noncoding	Benign
8	133242060	A	C	A133242060C	NDRG1	NM_006096.4(NDRG1):c.906T>G:p.Ala302=	coding	Benign
8	133242079	G	A	G133242079A	NDRG1	NM_006096.3(NDRG1):c.892-5C>T	noncoding	Benign
8	133244316	G	T	G133244316T	NDRG1	NM_006096.3(NDRG1):c.891+39C>A	noncoding	Benign
8	133244367	C	T	C133244367T	NDRG1	NM_006096.3(NDRG1):c.879G>A:p.Pro293=	coding	Benign/Likely_benign
8	133244611	T	A	T133244611A	NDRG1	NM_006096.3(NDRG1):c.856-221A>T	noncoding	Benign
8	133246468	A	G	A133246468G	NDRG1	NM_006096.3(NDRG1):c.855+148T>C	noncoding	Benign
8	133246608	C	T	C133246608T	NDRG1	NM_006096.4(NDRG1):c.855+8G>A	noncoding	Benign
8	133247565	A	G	A133247565G	NDRG1	NM_006096.3(NDRG1):c.807+310T>C	noncoding	Benign
8	133247607	T	C	T133247607C	NDRG1	NM_006096.3(NDRG1):c.807+268A>G	noncoding	Benign
8	133247622	G	A	G133247622A	NDRG1	NM_006096.3(NDRG1):c.807+253C>T	noncoding	Benign
8	133247931	G	A	G133247931A	NDRG1	NM_006096.3(NDRG1):c.756-5C>T	noncoding	Benign
8	133248574	T	C	T133248574C	NDRG1	NM_006096.3(NDRG1):c.755+141A>G	noncoding	Benign
8	133248705	A	G	A133248705G	NDRG1	NM_006096.3(NDRG1):c.755+10T>C	noncoding	Benign
8	133248822	T	G	T133248822G	NDRG1	NM_006096.3(NDRG1):c.699-51A>C	noncoding	Benign
8	133249053	C	T	C133249053T	NDRG1	NM_006096.3(NDRG1):c.699-282G>A	noncoding	Benign
8	133250289	T	C	T133250289C	NDRG1	NM_006096.3(NDRG1):c.698+151A>G	noncoding	Benign
8	133250356	T	C	T133250356C	NDRG1	NM_006096.3(NDRG1):c.698+84A>G	noncoding	Benign
8	133250534	G	A	G133250534A	NDRG1	NM_006096.4(NDRG1):c.604C>T:p.Gln202Ter	coding	Pathogenic
8	133250672	C	T	C133250672T	NDRG1	NM_006096.3(NDRG1):c.595-129G>A	noncoding	Benign
8	133254727	C	G	C133254727G	NDRG1	NM_006096.3(NDRG1):c.538-132G>C	noncoding	Benign
8	133256807	C	T	C133256807T	NDRG1	NM_006096.3(NDRG1):c.507G>A:p.Ala169=	coding	Benign/Likely_benign
8	133258305	T	C	T133258305C	NDRG1	NM_006096.3(NDRG1):c.450+61A>G	noncoding	Benign
8	133258374	G	A	G133258374A	NDRG1	NM_001135242.2(NDRG1):c.442C>T:p.Arg148Ter	coding	Pathogenic
8	133259278	G	C	G133259278C	NDRG1	NM_006096.3(NDRG1):c.327-48C>G	noncoding	Benign
8	133261983	C	G	C133261983G	NDRG1	NM_006096.3(NDRG1):c.326+64G>C	noncoding	Benign
8	133262067	G	A	G133262067A	NDRG1	NM_006096.3(NDRG1):c.306C>T:p.Gly102=	coding	Benign/Likely_benign
8	133262431	T	C	T133262431C	NDRG1	NM_006096.3(NDRG1):c.206-264A>G	noncoding	Benign
8	133264546	C	T	C133264546T	NDRG1	NM_006096.3(NDRG1):c.205+1G>A	noncoding	Pathogenic
8	133264553	T	C	T133264553C	NDRG1	NM_006096.3(NDRG1):c.199A>G:p.Met67Val	coding	Benign/Likely_benign
8	133279987	A	G	A133279987G	NDRG1	NM_006096.3(NDRG1):c.99+245T>C	noncoding	Benign
8	133279998	C	T	C133279998T	NDRG1	NM_006096.3(NDRG1):c.99+234G>A	noncoding	Benign
8	133280045	T	C	T133280045C	NDRG1	NM_006096.3(NDRG1):c.99+187A>G	noncoding	Benign
8	133280273	A	G	A133280273G	NDRG1	NM_001135242.2(NDRG1):c.64-6T>C	noncoding	Benign
8	133284479	T	C	T133284479C	NDRG1	NM_006096.3(NDRG1):c.-18-150A>G	noncoding	Benign
8	133284499	T	C	T133284499C	NDRG1	NM_006096.3(NDRG1):c.-18-170A>G	noncoding	Benign
8	133296767	C	A	C133296767A	NDRG1	NM_006096.3(NDRG1):c.-19+367G>T	noncoding	Benign
8	133297085	G	A	G133297085A	NDRG1	NM_006096.3(NDRG1):c.-19+49C>T	noncoding	Benign
8	133297235	G	A	G133297235A	NDRG1	NM_006096.3(NDRG1):c.-120C>T	noncoding	Benign
8	133463467	T	C	T133463467C	ST3GAL1	NM_173344.3(ST3GAL1):c.684-8A>G	noncoding	Benign
8	133465935	A	G	A133465935G	ST3GAL1	NM_173344.3(ST3GAL1):c.462T>C:p.Ser154=	coding	Benign
8	133475754	C	T	C133475754T	ST3GAL1	NM_173344.3(ST3GAL1):c.271G>A:p.Ala91Thr	coding	Benign
8	133475833	G	A	G133475833A	ST3GAL1	NM_173344.3(ST3GAL1):c.192C>T:p.Cys64=	coding	Benign
8	134478659	C	T	C134478659T	ZFAT	NM_020863.4(ZFAT):c.3555G>A:p.Ala1185=	coding	Benign
8	134509637	C	T	C134509637T	ZFAT	NM_020863.4(ZFAT):c.3474G>A:p.Thr1158=	coding	Benign
8	134520970	T	C	T134520970C	ZFAT	NM_020863.4(ZFAT):c.3147A>G:p.Val1049=	coding	Benign
8	134601704	C	T	C134601704T	ZFAT	NM_020863.4(ZFAT):c.2015G>A:p.Arg672Lys	coding	Benign
8	134601978	C	T	C134601978T	ZFAT	NM_020863.4(ZFAT):c.1741G>A:p.Val581Met	coding	Benign
8	134602083	G	A	G134602083A	ZFAT	NM_020863.4(ZFAT):c.1636C>T:p.Arg546Trp	coding	Benign
8	134602185	G	A	G134602185A	ZFAT	NM_020863.4(ZFAT):c.1534C>T:p.Leu512=	coding	Benign
8	134602665	T	C	T134602665C	ZFAT	NM_020863.4(ZFAT):c.1054A>G:p.Ile352Val	coding	Benign
8	134657658	C	T	C134657658T	ZFAT	NM_020863.4(ZFAT):c.99G>A:p.Glu33=	coding	Benign
8	138148544	C	T	C138148544T	FAM135B	NM_015912.4(FAM135B):c.3424G>A:p.Val1142Ile	coding	Benign
8	138152713	C	T	C138152713T	FAM135B	NM_015912.4(FAM135B):c.1762G>A:p.Asp588Asn	coding	Benign
8	138152742	C	T	C138152742T	FAM135B	NM_015912.4(FAM135B):c.1733G>A:p.Ser578Asn	coding	Benign
8	138167995	A	G	A138167995G	FAM135B	NM_015912.4(FAM135B):c.1158T>C:p.Thr386=	coding	Benign
8	138195248	C	T	C138195248T	FAM135B	NM_015912.4(FAM135B):c.873+10G>A	noncoding	Benign
8	138636757	C	T	C138636757T	COL22A1	NM_152888.3(COL22A1):c.3540G>A:p.Gly1180=	coding	Benign
8	138722049	G	A	G138722049A	COL22A1	NM_152888.3(COL22A1):c.2288C>T:p.Pro763Leu	coding	Benign
8	138724654	C	A	C138724654A	COL22A1	NM_152888.3(COL22A1):c.2208G>T:p.Glu736Asp	coding	Benign
8	139618345	G	A	G139618345A	KCNK9	NM_001282534.2(KCNK9):c.1038C>T:p.Leu346=	coding	Benign
8	139618558	G	A	G139618558A	KCNK9	NM_001282534.2(KCNK9):c.825C>T:p.Ile275=	coding	Benign
8	139618677	C	G	C139618677G	KCNK9	NM_001282534.2(KCNK9):c.706G>C:p.Gly236Arg	coding	Pathogenic
8	139618677	C	T	C139618677T	KCNK9	NM_001282534.2(KCNK9):c.706G>A:p.Gly236Arg	coding	Pathogenic
8	139619008	G	A	G139619008A	KCNK9	NM_001282534.2(KCNK9):c.375C>T:p.Phe125=	coding	Benign
8	139619074	G	A	G139619074A	KCNK9	NM_001282534.2(KCNK9):c.309C>T:p.Thr103=	coding	Benign
8	139619109	G	C	G139619109C	KCNK9	NM_001282534.2(KCNK9):c.284-10C>G	noncoding	Benign
8	139730957	G	A	G139730957A	TRAPPC9	NM_001160372.4(TRAPPC9):c.*104C>T	noncoding	Benign
8	139731118	T	G	T139731118G	TRAPPC9	NM_001160372.4(TRAPPC9):c.3390A>C:p.Pro1130=	coding	Benign/Likely_benign
8	139731975	G	A	G139731975A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3279+4C>T	noncoding	Benign/Likely_benign
8	139732033	G	A	G139732033A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3225C>T:p.Tyr1075=	coding	Benign/Likely_benign
8	139732171	G	A	G139732171A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3087C>T:p.Arg1029=	coding	Benign
8	139732189	G	A	G139732189A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3069C>T:p.Asp1023=	coding	Benign/Likely_benign
8	139885922	G	A	G139885922A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3012C>T:p.Asn1004=	coding	Benign/Likely_benign
8	139910240	C	T	C139910240T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2871G>A:p.Lys957=	coding	Benign
8	139988727	G	A	G139988727A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2809C>T:p.Arg937Ter	coding	Pathogenic
8	139988737	A	G	A139988737G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2799T>C:p.Gly933=	coding	Benign
8	139988794	G	A	G139988794A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2742C>T:p.Thr914=	coding	Benign/Likely_benign
8	140024081	T	G	T140024081G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-2A>C	noncoding	Pathogenic
8	140024092	A	T	A140024092T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-13T>A	noncoding	Benign
8	140221524	G	A	G140221524A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2491C>T:p.Arg831Ter	coding	Pathogenic
8	140252770	C	T	C140252770T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2431+7G>A	noncoding	Benign
8	140252916	G	A	G140252916A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2292C>T:p.Gly764=	coding	Benign
8	140283924	C	T	C140283924T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2079G>A:p.Ala693=	coding	Benign
8	140284041	T	G	T140284041G	TRAPPC9	NM_001160372.4(TRAPPC9):c.1982-20A>C	noncoding	Benign
8	140300545	G	A	G140300545A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1692C>T:p.Asn564=	coding	Benign
8	140360131	G	A	G140360131A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1414C>T:p.Arg472Ter	coding	Pathogenic/Likely_pathogenic
8	140371100	C	T	C140371100T	TRAPPC9	NM_001160372.4(TRAPPC9):c.1215G>A:p.Ala405=	coding	Benign
8	140397625	G	A	G140397625A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1129C>T:p.Arg377Ter	coding	Pathogenic
8	140450819	C	T	C140450819T	TRAPPC9	NM_001160372.4(TRAPPC9):c.555G>A:p.Lys185=	coding	Benign/Likely_benign
8	140450960	G	A	G140450960A	TRAPPC9	NM_001160372.4(TRAPPC9):c.414C>T:p.Tyr138=	coding	Benign/Likely_benign
8	140450963	G	A	G140450963A	TRAPPC9	NM_001160372.4(TRAPPC9):c.411C>T:p.Asn137=	coding	Benign
8	140450975	A	G	A140450975G	TRAPPC9	NM_001160372.4(TRAPPC9):c.399T>C:p.Ala133=	coding	Benign/Likely_benign
8	140451007	C	A	C140451007A	TRAPPC9	NM_001160372.4(TRAPPC9):c.367G>T:p.Glu123Ter	coding	Pathogenic
8	140451017	C	T	C140451017T	TRAPPC9	NM_001160372.4(TRAPPC9):c.357G>A:p.Gly119=	coding	Benign/Likely_benign
8	140451086	A	G	A140451086G	TRAPPC9	NM_001160372.4(TRAPPC9):c.288T>C:p.Phe96=	coding	Benign
8	140451167	A	G	A140451167G	TRAPPC9	NM_001160372.4(TRAPPC9):c.207T>C:p.Gly69=	coding	Benign
8	140451176	G	A	G140451176A	TRAPPC9	NM_001160372.4(TRAPPC9):c.198C>T:p.Asn66=	coding	Benign/Likely_benign
8	140451223	G	A	G140451223A	TRAPPC9	NM_001160372.4(TRAPPC9):c.151C>T:p.Arg51Ter	coding	Pathogenic
8	140451367	C	T	C140451367T	TRAPPC9	NM_001160372.4(TRAPPC9):c.7G>A:p.Val3Ile	coding	Benign
8	140458271	C	T	C140458271T	TRAPPC9	NM_031466.7(TRAPPC9):c.284+10G>A	noncoding	Benign
8	140458343	C	G	C140458343G	TRAPPC9	NM_031466.7(TRAPPC9):c.222G>C:p.Ala74=	coding	Benign/Likely_benign
8	140458378	T	C	T140458378C	TRAPPC9	NM_031466.7(TRAPPC9):c.187A>G:p.Arg63Gly	coding	Benign/Likely_benign
8	140458405	T	C	T140458405C	TRAPPC9	NM_031466.7(TRAPPC9):c.160A>G:p.Ser54Gly	coding	Benign/Likely_benign
8	140539313	A	G	A140539313G	AGO2	NM_012154.5(AGO2):c.2169+7T>C	noncoding	Benign
8	140541269	G	A	G140541269A	AGO2	NM_012154.5(AGO2):c.1929C>T:p.Ala643=	coding	Benign
8	140544243	G	A	G140544243A	AGO2	NM_012154.5(AGO2):c.1809C>T:p.Ala603=	coding	Benign
8	140547509	G	C	G140547509C	AGO2	NM_012154.5(AGO2):c.1707C>G:p.Val569=	coding	Benign
8	140547631	A	C	A140547631C	AGO2	NM_012154.5(AGO2):c.1589-4T>G	noncoding	Benign
8	140549169	C	T	C140549169T	AGO2	NM_012154.5(AGO2):c.1533G>A:p.Thr511=	coding	Benign
8	140551294	G	C	G140551294C	AGO2	NM_012154.5(AGO2):c.1403+9C>G	noncoding	Benign
8	140560414	G	T	G140560414T	AGO2	NM_012154.5(AGO2):c.615C>A:p.Ser205=	coding	Benign
8	140668299	G	A	G140668299A	PTK2	NM_001199649.2(PTK2):c.2874C>T:p.Ala958=	coding	Benign
8	140668359	G	A	G140668359A	PTK2	NM_001199649.2(PTK2):c.2814C>T:p.Tyr938=	coding	Benign
8	140735295	G	A	G140735295A	PTK2	NM_001199649.2(PTK2):c.1986C>T:p.Asp662=	coding	Benign
8	140735334	A	G	A140735334G	PTK2	NM_001199649.2(PTK2):c.1947T>C:p.Pro649=	coding	Benign
8	140800487	C	T	C140800487T	PTK2	NM_001199649.2(PTK2):c.1065G>A:p.Ser355=	coding	Benign
8	140800505	C	A	C140800505A	PTK2	NM_001199649.2(PTK2):c.1047G>T:p.Arg349=	coding	Benign
8	140830475	G	A	G140830475A	PTK2	NM_001199649.2(PTK2):c.645C>T:p.Val215=	coding	Benign
8	140890755	G	A	G140890755A	PTK2	NM_001199649.2(PTK2):c.-18C>T	coding	Benign
8	141136755	G	A	G141136755A	DENND3	NM_001352890.3(DENND3):c.349G>A:p.Val117Met	coding	Benign
8	141144160	T	A	T141144160A	DENND3	NM_001352890.3(DENND3):c.636T>A:p.Leu212=	coding	Benign
8	141150824	G	A	G141150824A	DENND3	NM_001352890.3(DENND3):c.736-10G>A	noncoding	Benign
8	141151720	G	A	G141151720A	DENND3	NM_001352890.3(DENND3):c.957G>A:p.Pro319=	coding	Benign
8	141160766	A	G	A141160766G	DENND3	NM_001352890.3(DENND3):c.1331A>G:p.Gln444Arg	coding	Benign
8	141166181	G	T	G141166181T	DENND3	NM_001352890.3(DENND3):c.1554-9G>T	noncoding	Benign
8	141166222	C	T	C141166222T	DENND3	NM_001352890.3(DENND3):c.1586C>T:p.Pro529Leu	coding	Benign
8	141166364	C	T	C141166364T	DENND3	NM_001352890.3(DENND3):c.1728C>T:p.Thr576=	coding	Benign
8	141168164	C	G	C141168164G	DENND3	NM_001352890.3(DENND3):c.1914C>G:p.Arg638=	coding	Benign
8	141168331	C	T	C141168331T	DENND3	NM_001352890.3(DENND3):c.2081C>T:p.Ala694Val	coding	Benign
8	141168425	G	A	G141168425A	DENND3	NM_001352890.3(DENND3):c.2175G>A:p.Lys725=	coding	Benign
8	141178060	G	A	G141178060A	DENND3	NM_001352890.3(DENND3):c.2707-7G>A	noncoding	Benign
8	141180835	C	T	C141180835T	DENND3	NM_001352890.3(DENND3):c.2925C>T:p.Asp975=	coding	Benign
8	141211700	A	G	A141211700G	SLC45A4	NM_001286646.1(SLC45A4):c.2302-3T>C	noncoding	Benign
8	141212230	C	G	C141212230G	SLC45A4	NM_001286646.1(SLC45A4):c.2268G>C:p.Glu756Asp	coding	Benign
8	141212239	C	T	C141212239T	SLC45A4	NM_001286646.1(SLC45A4):c.2259G>A:p.Thr753=	coding	Benign
8	141215862	T	C	T141215862C	SLC45A4	NM_001286646.1(SLC45A4):c.1838A>G:p.Asn613Ser	coding	Benign
8	141217172	G	A	G141217172A	SLC45A4	NM_001286646.1(SLC45A4):c.1647C>T:p.Thr549=	coding	Benign
8	141218062	G	T	G141218062T	SLC45A4	NM_001286646.1(SLC45A4):c.1578C>A:p.Ala526=	coding	Benign
8	141218287	C	T	C141218287T	SLC45A4	NM_001286646.1(SLC45A4):c.1353G>A:p.Pro451=	coding	Benign
8	141218414	G	A	G141218414A	SLC45A4	NM_001286646.1(SLC45A4):c.1226C>T:p.Ser409Leu	coding	Benign
8	141218446	G	A	G141218446A	SLC45A4	NM_001286646.1(SLC45A4):c.1194C>T:p.Tyr398=	coding	Benign
8	141218536	C	T	C141218536T	SLC45A4	NM_001286646.1(SLC45A4):c.1104G>A:p.Lys368=	coding	Benign
8	141218824	C	T	C141218824T	SLC45A4	NM_001286646.1(SLC45A4):c.816G>A:p.Leu272=	coding	Benign
8	141219687	C	T	C141219687T	SLC45A4	NM_001286646.1(SLC45A4):c.573G>A:p.Glu191=	coding	Benign
8	141219816	G	T	G141219816T	SLC45A4	NM_001286646.1(SLC45A4):c.444C>A:p.Gly148=	coding	Benign
8	141356886	G	A	G141356886A	GPR20	NM_005293.3(GPR20):c.1038C>T:p.His346=	coding	Benign
8	141426934	C	T	C141426934T	PTP4A3	NM_032611.3(PTP4A3):c.199-5C>T	noncoding	Benign
8	142229492	G	A	G142229492A	TSNARE1	NM_145003.5(TSNARE1):c.1534C>T:p.Arg512Ter	coding	Benign
8	142343970	G	A	G142343970A	TSNARE1	NM_145003.5(TSNARE1):c.741C>T:p.Pro247=	coding	Benign
8	142344409	G	A	G142344409A	TSNARE1	NM_145003.5(TSNARE1):c.302C>T:p.Pro101Leu	coding	Benign
8	142478239	C	T	C142478239T	ADGRB1	NM_001702.3(ADGRB1):c.1440C>T:p.Ser480=	coding	Benign
8	142479486	C	T	C142479486T	ADGRB1	NM_001702.3(ADGRB1):c.1725C>T:p.Pro575=	coding	Benign
8	142542056	C	A	C142542056A	ADGRB1	NM_001702.3(ADGRB1):c.3822C>A:p.Thr1274=	coding	Benign
8	142542119	C	T	C142542119T	ADGRB1	NM_001702.3(ADGRB1):c.3885C>T:p.Pro1295=	coding	Benign
8	142542566	G	A	G142542566A	ADGRB1	NM_001702.3(ADGRB1):c.4332G>A:p.Glu1444=	coding	Benign
8	142543671	C	T	C142543671T	ADGRB1	NM_001702.3(ADGRB1):c.4520C>T:p.Ala1507Val	coding	Benign
8	142613735	G	A	G142613735A	ARC	NM_015193.5(ARC):c.537C>T:p.Ala179=	coding	Benign
8	142664532	C	T	C142664532T	JRK	NM_003724.4(JRK):c.1527G>A:p.Ala509=	coding	Benign
8	142664551	C	T	C142664551T	JRK	NM_003724.4(JRK):c.1508G>A:p.Arg503Gln	coding	Benign
8	142664633	T	C	T142664633C	JRK	NM_003724.4(JRK):c.1426A>G:p.Arg476Gly	coding	Benign
8	142664652	C	T	C142664652T	JRK	NM_003724.4(JRK):c.1407G>A:p.Pro469=	coding	Benign
8	142664997	G	A	G142664997A	JRK	NM_003724.4(JRK):c.1062C>T:p.His354=	coding	Benign
8	142665282	G	A	G142665282A	JRK	NM_003724.4(JRK):c.777C>T:p.Asn259=	coding	Benign
8	142665573	C	G	C142665573G	JRK	NM_003724.4(JRK):c.486G>C:p.Ala162=	coding	Benign
8	142665852	G	C	G142665852C	JRK	NM_003724.4(JRK):c.207C>G:p.Ser69=	coding	Benign
8	142680513	C	T	C142680513T	JRK	NM_005672.5(PSCA):c.-26C>T	noncoding	Benign
8	142741159	C	T	C142741159T	SLURP1	NM_020427.3(SLURP1):c.296G>A:p.Cys99Tyr	coding	Pathogenic
8	142741169	G	A	G142741169A	SLURP1	NM_020427.3(SLURP1):c.286C>T:p.Arg96Ter	coding	Pathogenic
8	142741194	G	A	G142741194A	SLURP1	NM_020427.3(SLURP1):c.261C>T:p.Ala87=	coding	Benign
8	142741199	C	G	C142741199G	SLURP1	NM_020427.3(SLURP1):c.256G>C:p.Gly86Arg	coding	Pathogenic
8	142741199	C	T	C142741199T	SLURP1	NM_020427.3(SLURP1):c.256G>A:p.Gly86Arg	coding	Pathogenic
8	142741226	A	G	A142741226G	SLURP1	NM_020427.3(SLURP1):c.229T>C:p.Cys77Arg	coding	Pathogenic
8	142741802	C	T	C142741802T	SLURP1	NM_020427.3(SLURP1):c.178+1G>A	noncoding	Pathogenic
8	142742343	A	G	A142742343G	SLURP1	NM_020427.3(SLURP1):c.43T>C:p.Trp15Arg	coding	Pathogenic
8	142742385	T	G	T142742385G	SLURP1	NM_020427.3(SLURP1):c.1A>C:p.Met1Leu	coding	Pathogenic
8	142764641	G	A	G142764641A	LYNX1;SLURP2;LYNX1-SLURP2	NM_177458.3(SLURP2):c.258C>T:p.Ile86=	coding	Benign
8	142840503	C	T	C142840503T	GML	NM_002066.3(GML):c.66C>T:p.Arg22=	coding	Benign
8	142873297	G	A	G142873297A	CYP11B1	NM_000497.3(CYP11B1):c.*1076C>T	noncoding	Benign/Likely_benign
8	142873331	T	C	T142873331C	CYP11B1	NM_000497.3(CYP11B1):c.*1042A>G	noncoding	Benign
8	142873353	G	A	G142873353A	CYP11B1	NM_000497.3(CYP11B1):c.*1020C>T	noncoding	Benign
8	142873450	C	G	C142873450G	CYP11B1	NM_000497.3(CYP11B1):c.*923G>C	noncoding	Benign
8	142873635	C	T	C142873635T	CYP11B1	NM_000497.3(CYP11B1):c.*738G>A	noncoding	Benign
8	142873655	A	C	A142873655C	CYP11B1	NM_000497.3(CYP11B1):c.*718T>G	noncoding	Benign/Likely_benign
8	142873679	A	G	A142873679G	CYP11B1	NM_000497.3(CYP11B1):c.*694T>C	noncoding	Benign
8	142873739	C	T	C142873739T	CYP11B1	NM_000497.3(CYP11B1):c.*634G>A	noncoding	Benign/Likely_benign
8	142873857	T	C	T142873857C	CYP11B1	NM_000497.3(CYP11B1):c.*516A>G	noncoding	Benign
8	142873902	T	G	T142873902G	CYP11B1	NM_000497.3(CYP11B1):c.*471A>C	noncoding	Benign
8	142873905	G	A	G142873905A	CYP11B1	NM_000497.3(CYP11B1):c.*468C>T	noncoding	Benign/Likely_benign
8	142874055	T	C	T142874055C	CYP11B1	NM_000497.3(CYP11B1):c.*318A>G	noncoding	Benign
8	142874180	T	A	T142874180A	CYP11B1	NM_000497.3(CYP11B1):c.*193A>T	noncoding	Benign/Likely_benign
8	142874180	T	G	T142874180G	CYP11B1	NM_000497.4(CYP11B1):c.*193A>C	noncoding	Benign/Likely_benign
8	142874241	A	G	A142874241G	CYP11B1	NM_000497.3(CYP11B1):c.*132T>C	noncoding	Benign
8	142874500	C	G	C142874500G	CYP11B1	NM_000497.3(CYP11B1):c.1399-14G>C	noncoding	Benign
8	142874953	T	C	T142874953C	CYP11B1	NM_000497.3(CYP11B1):c.1398+4A>G	noncoding	Pathogenic
8	142874995	G	A	G142874995A	CYP11B1	NM_000497.3(CYP11B1):c.1360C>T:p.Arg454Cys	coding	Pathogenic
8	142874997	C	T	C142874997T	CYP11B1	NM_000497.4(CYP11B1):c.1358G>A:p.Arg453Gln	coding	Pathogenic
8	142875002	A	G	A142875002G	CYP11B1	NM_000497.3(CYP11B1):c.1353T>C:p.Leu451=	coding	Benign/Likely_benign
8	142875012	C	T	C142875012T	CYP11B1	NM_000497.3(CYP11B1):c.1343G>A:p.Arg448His	coding	Pathogenic/Likely_pathogenic
8	142875024	C	T	C142875024T	CYP11B1	NM_000497.3(CYP11B1):c.1331G>A:p.Gly444Asp	coding	Pathogenic/Likely_pathogenic
8	142875086	A	C	A142875086C	CYP11B1	NM_000497.3(CYP11B1):c.1269T>G:p.Tyr423Ter	coding	Pathogenic/Likely_pathogenic
8	142875089	G	A	G142875089A	CYP11B1	NM_000497.3(CYP11B1):c.1266C>T:p.Arg422=	coding	Benign/Likely_benign
8	142875277	G	A	G142875277A	CYP11B1	NM_000497.3(CYP11B1):c.1157C>T:p.Ala386Val	coding	Benign
8	142875712	C	T	C142875712T	CYP11B1	NM_000497.3(CYP11B1):c.1121G>A:p.Arg374Gln	coding	Pathogenic
8	142875713	G	T	G142875713T	CYP11B1	NM_000497.3(CYP11B1):c.1120C>A:p.Arg374=	coding	Benign/Likely_benign
8	142875730	G	T	G142875730T	CYP11B1	NM_000497.3(CYP11B1):c.1103C>A:p.Ala368Asp	coding	Pathogenic
8	142875735	A	C	A142875735C	CYP11B1	NM_000497.3(CYP11B1):c.1098T>G:p.Arg366=	coding	Benign/Likely_benign
8	142875747	C	G	C142875747G	CYP11B1	NM_000497.3(CYP11B1):c.1086G>C:p.Leu362=	coding	Benign
8	142875767	G	A	G142875767A	CYP11B1	NM_000497.3(CYP11B1):c.1066C>T:p.Gln356Ter	coding	Pathogenic
8	142875821	G	A	G142875821A	CYP11B1	NM_000497.4(CYP11B1):c.1012C>T:p.Gln338Ter	coding	Pathogenic
8	142875839	G	C	G142875839C	CYP11B1	NM_000497.4(CYP11B1):c.994C>G:p.Arg332Gly	coding	Pathogenic
8	142875845	G	A	G142875845A	CYP11B1	NM_000497.4(CYP11B1):c.988C>T:p.Leu330=	coding	Benign
8	142875877	G	A	G142875877A	CYP11B1	NM_000497.3(CYP11B1):c.956C>T:p.Thr319Met	coding	Pathogenic
8	142876242	G	A	G142876242A	CYP11B1	NM_000497.3(CYP11B1):c.953C>T:p.Thr318Met	coding	Pathogenic
8	142876242	G	C	G142876242C	CYP11B1	NM_000497.3(CYP11B1):c.953C>G:p.Thr318Arg	coding	Pathogenic/Likely_pathogenic
8	142876250	G	A	G142876250A	CYP11B1	NM_000497.4(CYP11B1):c.945C>T:p.Ser315=	coding	Benign
8	142876278	G	A	G142876278A	CYP11B1	NM_000497.3(CYP11B1):c.917C>T:p.Ala306Val	coding	Pathogenic/Likely_pathogenic
8	142876299	A	G	A142876299G	CYP11B1	NM_000497.3(CYP11B1):c.896T>C:p.Leu299Pro	coding	Pathogenic/Likely_pathogenic
8	142876322	C	T	C142876322T	CYP11B1	NM_000497.3(CYP11B1):c.873G>A:p.Ala291=	coding	Benign
8	142876409	G	A	G142876409A	CYP11B1	NM_000497.3(CYP11B1):c.800-14C>T	noncoding	Benign
8	142876701	C	T	C142876701T	CYP11B1	NM_000497.3(CYP11B1):c.780G>A:p.Trp260Ter	coding	Pathogenic
8	142876702	C	T	C142876702T	CYP11B1	NM_000497.3(CYP11B1):c.779G>A:p.Trp260Ter	coding	Pathogenic
8	142876738	G	A	G142876738A	CYP11B1	NM_000497.3(CYP11B1):c.743C>T:p.Thr248Ile	coding	Benign/Likely_benign
8	142876741	C	T	C142876741T	CYP11B1	NM_000497.3(CYP11B1):c.740G>A:p.Trp247Ter	coding	Pathogenic
8	142876926	G	A	G142876926A	CYP11B1	NM_000497.4(CYP11B1):c.596-41C>T	noncoding	Benign
8	142877007	C	A	C142877007A	CYP11B1	NM_000497.3(CYP11B1):c.595+16G>T	noncoding	Pathogenic
8	142877011	C	T	C142877011T	CYP11B1	NM_000497.3(CYP11B1):c.595+12G>A	noncoding	Benign
8	142877022	C	T	C142877022T	CYP11B1	NM_000497.3(CYP11B1):c.595+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	142877064	G	C	G142877064C	CYP11B1	NM_000497.3(CYP11B1):c.554C>G:p.Thr185Ser	coding	Benign/Likely_benign
8	142877159	A	G	A142877159G	CYP11B1	NM_000497.4(CYP11B1):c.459T>C:p.Ala153=	coding	Benign/Likely_benign
8	142877221	T	G	T142877221G	CYP11B1	NM_000497.3(CYP11B1):c.397A>C:p.Asn133His	coding	Pathogenic
8	142879080	C	T	C142879080T	CYP11B1	NM_000497.3(CYP11B1):c.347G>A:p.Trp116Ter	coding	Pathogenic
8	142879146	G	A	G142879146A	CYP11B1	NM_000497.3(CYP11B1):c.281C>T:p.Pro94Leu	coding	Pathogenic
8	142879181	G	A	G142879181A	CYP11B1	NM_000497.3(CYP11B1):c.246C>T:p.Asp82=	coding	Benign
8	142879555	A	T	A142879555T	CYP11B1	NM_000497.4(CYP11B1):c.239+20T>A	noncoding	Benign
8	142879562	G	T	G142879562T	CYP11B1	NM_000497.3(CYP11B1):c.239+13C>A	noncoding	Benign
8	142879589	T	C	T142879589C	CYP11B1	NM_000497.3(CYP11B1):c.225A>G:p.Leu75=	coding	Benign
8	142879597	G	A	G142879597A	CYP11B1	NM_000497.3(CYP11B1):c.217C>T:p.Gln73Ter	coding	Pathogenic/Likely_pathogenic
8	142879686	C	T	C142879686T	CYP11B1	NM_000497.3(CYP11B1):c.128G>A:p.Arg43Gln	coding	Benign
8	142879690	G	A	G142879690A	CYP11B1	NM_000497.3(CYP11B1):c.124C>T:p.Pro42Ser	coding	Pathogenic
8	142879759	G	A	G142879759A	CYP11B1	NM_000497.3(CYP11B1):c.55C>T:p.Gln19Ter	coding	Pathogenic/Likely_pathogenic
8	142910802	A	G	A142910802G	CYP11B2	NM_000498.3(CYP11B2):c.*1178T>C	noncoding	Benign
8	142911236	C	T	C142911236T	CYP11B2	NM_000498.3(CYP11B2):c.*744G>A	noncoding	Benign
8	142911245	C	T	C142911245T	CYP11B2	NM_000498.3(CYP11B2):c.*735G>A	noncoding	Benign
8	142911443	G	A	G142911443A	CYP11B2	NM_000498.3(CYP11B2):c.*537C>T	noncoding	Benign
8	142911448	C	A	C142911448A	CYP11B2	NM_000498.3(CYP11B2):c.*532G>T	noncoding	Benign
8	142911741	A	G	A142911741G	CYP11B2	NM_000498.3(CYP11B2):c.*239T>C	noncoding	Benign
8	142911899	C	T	C142911899T	CYP11B2	NM_000498.3(CYP11B2):c.*81G>A	noncoding	Benign
8	142912000	T	C	T142912000C	CYP11B2	NM_000498.3(CYP11B2):c.1492A>G:p.Thr498Ala	coding	Pathogenic
8	142912528	A	C	A142912528C	CYP11B2	NM_000498.3(CYP11B2):c.1398+2T>G	noncoding	Pathogenic
8	142912529	C	T	C142912529T	CYP11B2	NM_000498.3(CYP11B2):c.1398+1G>A	noncoding	Pathogenic
8	142912546	A	G	A142912546G	CYP11B2	NM_000498.3(CYP11B2):c.1382T>C:p.Leu461Pro	coding	Pathogenic
8	142912575	G	A	G142912575A	CYP11B2	NM_000498.3(CYP11B2):c.1353C>T:p.Leu451=	coding	Benign/Likely_benign
8	142912578	G	T	G142912578T	CYP11B2;LOC106799834	NM_000498.3(CYP11B2):c.1350C>A:p.Cys450Ter	coding	Pathogenic
8	142912625	C	T	C142912625T	CYP11B2	NM_000498.3(CYP11B2):c.1303G>A:p.Gly435Ser	coding	Benign
8	142912656	A	G	A142912656G	CYP11B2	NM_000498.3(CYP11B2):c.1272T>C:p.Asn424=	coding	Benign
8	142912688	C	G	C142912688G	CYP11B2	NM_000498.3(CYP11B2):c.1240G>C:p.Ala414Pro	coding	Benign
8	142912837	C	T	C142912837T	CYP11B2	NM_000498.3(CYP11B2):c.1170G>A:p.Leu390=	coding	Benign
8	142912850	A	G	A142912850G	CYP11B2	NM_000498.3(CYP11B2):c.1157T>C:p.Val386Ala	coding	Benign
8	142912857	G	A	G142912857A	CYP11B2	NM_000498.3(CYP11B2):c.1150C>T:p.Arg384Ter	coding	Pathogenic
8	142912863	A	G	A142912863G	CYP11B2	NM_000498.3(CYP11B2):c.1144T>C:p.Leu382=	coding	Benign
8	142912895	G	A	G142912895A	CYP11B2	NM_000498.3(CYP11B2):c.1122-10C>T	noncoding	Benign
8	142913286	G	T	G142913286T	CYP11B2	NM_000498.3(CYP11B2):c.1120C>A:p.Arg374=	coding	Benign
8	142913305	C	T	C142913305T	CYP11B2	NM_000498.3(CYP11B2):c.1101G>A:p.Ala367=	coding	Benign/Likely_benign
8	142913326	G	A	G142913326A	CYP11B2	NM_000498.3(CYP11B2):c.1080C>T:p.Thr360=	coding	Benign
8	142913390	A	G	A142913390G	CYP11B2	NM_000498.3(CYP11B2):c.1016T>C:p.Ile339Thr	coding	Benign
8	142913390	A	T	A142913390T	CYP11B2	NM_000498.3(CYP11B2):c.1016T>A:p.Ile339Asn	coding	Benign
8	142913391	T	C	T142913391C	CYP11B2	NM_000498.3(CYP11B2):c.1015A>G:p.Ile339Val	coding	Benign
8	142913397	G	A	G142913397A	CYP11B2	NM_000498.3(CYP11B2):c.1009C>T:p.Gln337Ter	coding	Pathogenic
8	142914264	C	T	C142914264T	CYP11B2	NM_000498.3(CYP11B2):c.954G>A:p.Thr318=	coding	Pathogenic
8	142914265	G	A	G142914265A	CYP11B2	NM_000498.3(CYP11B2):c.953C>T:p.Thr318Met	coding	Pathogenic
8	142914273	G	A	G142914273A	CYP11B2	NM_000498.3(CYP11B2):c.945C>T:p.Ser315=	coding	Benign/Likely_benign
8	142914327	C	T	C142914327T	CYP11B2	NM_000498.3(CYP11B2):c.891G>A:p.Ala297=	coding	Benign
8	142914345	C	T	C142914345T	CYP11B2	NM_000498.3(CYP11B2):c.873G>A:p.Ala291=	coding	Benign
8	142914351	G	A	G142914351A	CYP11B2	NM_000498.3(CYP11B2):c.867C>T:p.Ile289=	coding	Benign/Likely_benign
8	142914376	T	C	T142914376C	CYP11B2	NM_000498.3(CYP11B2):c.842A>G:p.Asn281Ser	coding	Benign/Likely_benign
8	142914393	G	A	G142914393A	CYP11B2	NM_000498.3(CYP11B2):c.825C>T:p.Tyr275=	coding	Benign
8	142914404	G	A	G142914404A	CYP11B2	NM_000498.3(CYP11B2):c.814C>T:p.Gln272Ter	coding	Pathogenic
8	142914706	G	A	G142914706A	CYP11B2	NM_000498.3(CYP11B2):c.798C>T:p.Tyr266=	coding	Benign/Likely_benign
8	142914741	C	A	C142914741A	CYP11B2	NM_000498.3(CYP11B2):c.763G>T:p.Glu255Ter	coding	Pathogenic
8	142914825	G	A	G142914825A	CYP11B2	NM_000498.3(CYP11B2):c.679C>T:p.Leu227=	coding	Benign
8	142914864	G	C	G142914864C	CYP11B2	NM_000498.3(CYP11B2):c.640C>G:p.His214Asp	coding	Benign/Likely_benign
8	142914898	T	C	T142914898C	CYP11B2	NM_000498.3(CYP11B2):c.606A>G:p.Leu202=	coding	Benign
8	142915032	C	T	C142915032T	CYP11B2	NM_000498.3(CYP11B2):c.595+14G>A	noncoding	Benign/Likely_benign
8	142915087	G	A	G142915087A	CYP11B2	NM_000498.3(CYP11B2):c.554C>T:p.Thr185Ile	coding	Pathogenic/Likely_pathogenic
8	142915123	T	C	T142915123C	CYP11B2	NM_000498.3(CYP11B2):c.518A>G:p.Lys173Arg	coding	Benign
8	142915137	G	A	G142915137A	CYP11B2	NM_000498.3(CYP11B2):c.504C>T:p.Phe168=	coding	Benign
8	142915192	G	T	G142915192T	CYP11B2	NM_000498.3(CYP11B2):c.449C>A:p.Ser150Ter	coding	Pathogenic
8	142917172	C	T	C142917172T	CYP11B2	NM_000498.3(CYP11B2):c.282G>A:p.Pro94=	coding	Benign
8	142917215	C	T	C142917215T	CYP11B2	NM_000498.3(CYP11B2):c.240-1G>A	coding	Pathogenic
8	142917730	C	T	C142917730T	CYP11B2	NM_000498.3(CYP11B2):c.111G>A:p.Pro37=	coding	Benign
8	142917752	C	T	C142917752T	CYP11B2	NM_000498.3(CYP11B2):c.89G>A:p.Arg30Gln	coding	Benign
8	142917756	C	T	C142917756T	CYP11B2	NM_000498.3(CYP11B2):c.85G>A:p.Ala29Thr	coding	Benign
8	142917811	G	T	G142917811T	CYP11B2	NM_000498.3(CYP11B2):c.30C>A:p.Cys10Ter	coding	Pathogenic
8	142918184	A	G	A142918184G	CYP11B2	NM_000498.3(CYP11B2):c.-344T>C	noncoding	Benign
8	143021699	G	A	G143021699A	LY6E	NM_002346.3(LY6E):c.306G>A:p.Ala102=	coding	Benign
8	143021708	C	T	C143021708T	LY6E	NM_002346.3(LY6E):c.315C>T:p.Gly105=	coding	Benign
8	143021724	G	A	G143021724A	LY6E	NM_002346.3(LY6E):c.331G>A:p.Val111Ile	coding	Benign
8	143213308	T	G	T143213308G	GPIHBP1	NM_178172.6(GPIHBP1):c.41T>G:p.Phe14Cys	coding	Benign
8	143215025	G	A	G143215025A	GPIHBP1	NM_178172.6(GPIHBP1):c.194G>A:p.Cys65Tyr	coding	Pathogenic
8	143215025	G	C	G143215025C	GPIHBP1	NM_178172.6(GPIHBP1):c.194G>C:p.Cys65Ser	coding	Pathogenic
8	143215033	T	G	T143215033G	GPIHBP1	NM_178172.6(GPIHBP1):c.202T>G:p.Cys68Gly	coding	Pathogenic
8	143215097	G	T	G143215097T	GPIHBP1	NM_178172.6(GPIHBP1):c.266G>T:p.Cys89Phe	coding	Pathogenic
8	143215116	C	T	C143215116T	GPIHBP1	NM_178172.6(GPIHBP1):c.285C>T:p.His95=	coding	Benign
8	143215255	C	T	C143215255T	GPIHBP1	NM_178172.6(GPIHBP1):c.296-4C>T	noncoding	Benign
8	143215283	C	G	C143215283G	GPIHBP1	NM_178172.6(GPIHBP1):c.320C>G:p.Ser107Cys	coding	Pathogenic
8	143215294	A	C	A143215294C	GPIHBP1	NM_178172.6(GPIHBP1):c.331A>C:p.Thr111Pro	coding	Pathogenic
8	143215307	A	C	A143215307C	GPIHBP1	NM_178172.6(GPIHBP1):c.344A>C:p.Gln115Pro	coding	Pathogenic
8	143309548	G	A	G143309548A	TOP1MT	NM_052963.3(TOP1MT):c.1704-5C>T	noncoding	Benign
8	143375651	C	T	C143375651T	RHPN1	NM_052924.3(RHPN1):c.159C>T:p.Gly53=	coding	Benign
8	143440077	C	A	C143440077A	ZC3H3	NM_015117.3(ZC3H3):c.2779G>T:p.Val927Phe	coding	Benign
8	143559344	G	T	G143559344T	GSDMD	NM_024736.7(GSDMD):c.9G>T:p.Ser3=	coding	Benign
8	143561751	G	A	G143561751A	GSDMD	NM_024736.7(GSDMD):c.746G>A:p.Arg249His	coding	Benign
8	143562496	A	G	A143562496G	GSDMD	NM_024736.7(GSDMD):c.1187A>G:p.Gln396Arg	coding	Benign
8	143562516	G	A	G143562516A	GSDMD	NM_024736.7(GSDMD):c.1207G>A:p.Glu403Lys	coding	Benign
8	143562806	A	G	A143562806G	GSDMD	NM_024736.7(GSDMD):c.1357A>G:p.Thr453Ala	coding	Benign
8	143575100	G	C	G143575100C	NAPRT	NM_145201.6(NAPRT):c.1447-7C>G	noncoding	Benign
8	143576494	G	A	G143576494A	NAPRT	NM_145201.6(NAPRT):c.960C>T:p.Asp320=	coding	Benign
8	143577819	G	A	G143577819A	NAPRT	NM_145201.6(NAPRT):c.351C>T:p.Pro117=	coding	Benign
8	143586768	G	A	G143586768A	EEF1D	NM_032378.6(EEF1D):c.1176C>T:p.Tyr392=	coding	Benign
8	143589134	C	T	C143589134T	EEF1D	NM_001960.6(EEF1D):c.-7-2282G>A	coding	Pathogenic
8	143589617	G	A	G143589617A	EEF1D	NM_032378.6(EEF1D):c.465C>T:p.Ala155=	coding	Benign
8	143589678	T	C	T143589678C	EEF1D	NM_032378.6(EEF1D):c.404A>G:p.Gln135Arg	coding	Benign
8	143589735	G	A	G143589735A	EEF1D	NM_032378.6(EEF1D):c.347C>T:p.Ser116Leu	coding	Benign
8	143589785	C	T	C143589785T	EEF1D	NM_032378.6(EEF1D):c.297G>A:p.Ala99=	coding	Benign
8	143589877	C	T	C143589877T	EEF1D	NM_032378.6(EEF1D):c.205G>A:p.Gly69Ser	coding	Benign
8	143726123	G	A	G143726123A	FAM83H	NM_198488.5(FAM83H):c.3338C>T:p.Ala1113Val	coding	Benign
8	143726269	C	T	C143726269T	FAM83H	NM_198488.5(FAM83H):c.3192G>A:p.Pro1064=	coding	Benign
8	143726344	G	A	G143726344A	FAM83H	NM_198488.5(FAM83H):c.3117C>T:p.Asp1039=	coding	Benign
8	143726402	C	T	C143726402T	FAM83H	NM_198488.4(FAM83H):c.3059G>A:p.Arg1020Gln	coding	Benign
8	143726577	G	A	G143726577A	FAM83H	NM_198488.4(FAM83H):c.2884C>T:p.Leu962=	coding	Benign
8	143726783	G	T	G143726783T	FAM83H	NM_198488.5(FAM83H):c.2678C>A:p.Pro893Gln	coding	Benign
8	143726836	G	A	G143726836A	FAM83H	NM_198488.5(FAM83H):c.2625C>T:p.Tyr875=	coding	Benign
8	143726956	G	A	G143726956A	FAM83H	NM_198488.5(FAM83H):c.2505C>T:p.Phe835=	coding	Benign
8	143727225	G	A	G143727225A	FAM83H	NM_198488.5(FAM83H):c.2236C>T:p.Arg746Cys	coding	Benign
8	143727303	C	T	C143727303T	FAM83H	NM_198488.5(FAM83H):c.2158G>A:p.Gly720Arg	coding	Benign
8	143727380	T	A	T143727380A	FAM83H	NM_198488.5(FAM83H):c.2081A>T:p.Glu694Val	coding	Benign
8	143727381	C	A	C143727381A	FAM83H	NM_198488.4(FAM83H):c.2080G>T:p.Glu694Ter	coding	Pathogenic
8	143727432	G	A	G143727432A	FAM83H	NM_198488.4(FAM83H):c.2029C>T:p.Gln677Ter	coding	Pathogenic
8	143727551	G	A	G143727551A	FAM83H	NM_198488.4(FAM83H):c.1910C>T:p.Pro637Leu	coding	Benign
8	143727613	G	A	G143727613A	FAM83H	NM_198488.5(FAM83H):c.1848C>T:p.Pro616=	coding	Benign
8	143727634	G	A	G143727634A	FAM83H	NM_198488.4(FAM83H):c.1827C>T:p.Tyr609=	coding	Benign
8	143727685	G	C	G143727685C	FAM83H	NM_198488.5(FAM83H):c.1776C>G:p.Gly592=	coding	Benign
8	143727856	C	G	C143727856G	FAM83H	NM_198488.5(FAM83H):c.1605G>C:p.Glu535Asp	coding	Benign
8	143727968	G	A	G143727968A	FAM83H	NM_198488.4(FAM83H):c.1493C>T:p.Pro498Leu	coding	Benign
8	143728011	C	T	C143728011T	FAM83H	NM_198488.5(FAM83H):c.1450G>A:p.Ala484Thr	coding	Benign
8	143728053	G	A	G143728053A	FAM83H	NM_198488.4(FAM83H):c.1408C>T:p.Gln470Ter	coding	Pathogenic
8	143728081	C	T	C143728081T	FAM83H	NM_198488.4(FAM83H):c.1380G>A:p.Trp460Ter	coding	Pathogenic
8	143728082	C	T	C143728082T	FAM83H	NM_198488.4(FAM83H):c.1379G>A:p.Trp460Ter	coding	Pathogenic
8	143728095	G	A	G143728095A	FAM83H	NM_198488.4(FAM83H):c.1366C>T:p.Gln456Ter	coding	Pathogenic
8	143728218	C	A	C143728218A	FAM83H	NM_198488.4(FAM83H):c.1243G>T:p.Glu415Ter	coding	Pathogenic
8	143728269	G	A	G143728269A	FAM83H	NM_198488.4(FAM83H):c.1192C>T:p.Gln398Ter	coding	Pathogenic
8	143728402	G	A	G143728402A	FAM83H	NM_198488.5(FAM83H):c.1059C>T:p.Ala353=	coding	Benign
8	143728488	G	A	G143728488A	FAM83H	NM_198488.4(FAM83H):c.973C>T:p.Arg325Ter	coding	Pathogenic
8	143728510	T	C	T143728510C	FAM83H	NM_198488.5(FAM83H):c.951A>G:p.Pro317=	coding	Benign
8	143728570	A	T	A143728570T	FAM83H	NM_198488.4(FAM83H):c.891T>A:p.Tyr297Ter	coding	Pathogenic
8	143728601	G	T	G143728601T	FAM83H	NM_198488.4(FAM83H):c.860C>A:p.Ser287Ter	coding	Pathogenic
8	143730238	G	A	G143730238A	FAM83H	NM_198488.5(FAM83H):c.345C>T:p.Phe115=	coding	Benign
8	143730499	G	A	G143730499A	FAM83H	NM_198488.5(FAM83H):c.84C>T:p.Tyr28=	coding	Benign
8	143792856	A	C	A143792856C	SCRIB	NM_182706.5(SCRIB):c.4029T>G:p.Pro1343=	coding	Benign
8	143804036	G	C	G143804036C	SCRIB	NM_182706.5(SCRIB):c.3120+10C>G	noncoding	Benign
8	143806464	C	T	C143806464T	SCRIB	NM_182706.5(SCRIB):c.2289G>A:p.Val763=	coding	Benign
8	143808783	A	G	A143808783G	SCRIB	NM_182706.5(SCRIB):c.1941T>C:p.Asn647=	coding	Benign
8	143809011	G	A	G143809011A	SCRIB	NM_182706.5(SCRIB):c.1713C>T:p.Phe571=	coding	Benign
8	143810533	C	A	C143810533A	SCRIB	NM_182706.5(SCRIB):c.1476G>T:p.Arg492=	coding	Benign
8	143812844	G	A	G143812844A	SCRIB	NM_182706.5(SCRIB):c.760C>T:p.Leu254=	coding	Benign
8	143816631	A	G	A143816631G	PUF60	NM_078480.3(PUF60):c.1569T>C:p.Ser523=	coding	Benign
8	143816752	A	G	A143816752G	PUF60	NM_078480.3(PUF60):c.1448T>C:p.Val483Ala	coding	Pathogenic
8	143816948	G	A	G143816948A	PUF60	NM_078480.3(PUF60):c.1342C>T:p.Arg448Ter	coding	Pathogenic
8	143816961	C	G	C143816961G	PUF60	NM_078480.3(PUF60):c.1329G>C:p.Ser443=	coding	Benign
8	143816981	G	A	G143816981A	PUF60	NM_078480.3(PUF60):c.1309C>T:p.Gln437Ter	coding	Pathogenic
8	143817024	C	T	C143817024T	PUF60	NM_078480.3(PUF60):c.1266G>A:p.Glu422=	coding	Benign
8	143817036	C	T	C143817036T	PUF60	NM_078480.3(PUF60):c.1254G>A:p.Glu418=	coding	Benign
8	143817103	G	T	G143817103T	PUF60	NM_078480.3(PUF60):c.1187C>A:p.Ser396Ter	coding	Pathogenic
8	143817699	T	A	T143817699A	PUF60	NM_078480.3(PUF60):c.901A>T:p.Lys301Ter	coding	Pathogenic
8	143817926	C	T	C143817926T	PUF60	NM_078480.3(PUF60):c.753G>A:p.Lys251=	coding	Benign
8	143818372	C	A	C143818372A	PUF60	NM_078480.3(PUF60):c.510+1G>T	noncoding	Pathogenic
8	143818378	G	A	G143818378A	PUF60	NM_078480.3(PUF60):c.505C>T:p.His169Tyr	coding	Pathogenic
8	143818398	C	T	C143818398T	PUF60	NM_078480.3(PUF60):c.485G>A:p.Trp162Ter	coding	Pathogenic
8	143818494	C	T	C143818494T	PUF60	NM_078480.3(PUF60):c.389G>A:p.Arg130His	coding	Pathogenic/Likely_pathogenic
8	143821588	G	A	G143821588A	PUF60	NM_078480.3(PUF60):c.297+9C>T	noncoding	Benign
8	143821871	C	T	C143821871T	PUF60	NM_078480.3(PUF60):c.154G>A:p.Ala52Thr	coding	Benign
8	143824364	C	T	C143824364T	PUF60	NM_078480.3(PUF60):c.60G>A:p.Pro20=	coding	Benign
8	143916158	G	A	G143916158A	PLEC	NM_201384.3(PLEC):c.*19C>T	noncoding	Benign
8	143916167	G	A	G143916167A	PLEC	NM_201384.3(PLEC):c.*10C>T	noncoding	Benign
8	143916246	C	T	C143916246T	PLEC	NM_201384.3(PLEC):c.13575G>A:p.Ser4525=	coding	Benign
8	143916360	A	G	A143916360G	PLEC	NM_201384.3(PLEC):c.13461T>C:p.Ala4487=	coding	Benign
8	143916419	C	T	C143916419T	PLEC	NM_201384.3(PLEC):c.13402G>A:p.Ala4468Thr	coding	Benign/Likely_benign
8	143916471	C	T	C143916471T	PLEC	NM_201384.3(PLEC):c.13350G>A:p.Leu4450=	coding	Benign
8	143916477	G	A	G143916477A	PLEC	NM_201384.3(PLEC):c.13344C>T:p.Asp4448=	coding	Benign/Likely_benign
8	143916524	T	A	T143916524A	PLEC	NM_201384.3(PLEC):c.13297A>T:p.Lys4433Ter	coding	Pathogenic
8	143916573	C	T	C143916573T	PLEC	NM_201384.3(PLEC):c.13248G>A:p.Thr4416=	coding	Benign
8	143916616	G	A	G143916616A	PLEC	NM_201384.3(PLEC):c.13205C>T:p.Thr4402Met	coding	Benign
8	143916711	G	A	G143916711A	PLEC	NM_201384.3(PLEC):c.13110C>T:p.Ala4370=	coding	Benign
8	143917004	G	A	G143917004A	PLEC	NM_201384.3(PLEC):c.12817C>T:p.Pro4273Ser	coding	Benign/Likely_benign
8	143917008	T	C	T143917008C	PLEC	NM_201384.3(PLEC):c.12813A>G:p.Ser4271=	coding	Benign
8	143917037	C	T	C143917037T	PLEC	NM_201384.3(PLEC):c.12784G>A:p.Val4262Ile	coding	Benign
8	143917179	G	A	G143917179A	PLEC	NM_201384.3(PLEC):c.12642C>T:p.Ile4214=	coding	Benign/Likely_benign
8	143917260	G	A	G143917260A	PLEC	NM_201384.3(PLEC):c.12561C>T:p.Asp4187=	coding	Benign
8	143917272	G	A	G143917272A	PLEC	NM_201384.3(PLEC):c.12549C>T:p.Ile4183=	coding	Benign
8	143917461	C	T	C143917461T	PLEC	NM_201384.3(PLEC):c.12360G>A:p.Pro4120=	coding	Benign/Likely_benign
8	143917794	G	A	G143917794A	PLEC	NM_201384.3(PLEC):c.12027C>T:p.Arg4009=	coding	Benign/Likely_benign
8	143917881	G	A	G143917881A	PLEC	NM_201384.3(PLEC):c.11940C>T:p.Ile3980=	coding	Benign
8	143917908	C	T	C143917908T	PLEC	NM_201384.3(PLEC):c.11913G>A:p.Ala3971=	coding	Benign
8	143917935	T	C	T143917935C	PLEC	NM_201384.3(PLEC):c.11886A>G:p.Thr3962=	coding	Benign
8	143918101	G	A	G143918101A	PLEC	NM_201384.3(PLEC):c.11720C>T:p.Thr3907Met	coding	Benign
8	143918193	T	C	T143918193C	PLEC	NM_201384.3(PLEC):c.11628A>G:p.Pro3876=	coding	Benign
8	143918210	C	T	C143918210T	PLEC	NM_201384.3(PLEC):c.11611G>A:p.Gly3871Ser	coding	Benign/Likely_benign
8	143918220	G	A	G143918220A	PLEC	NM_201384.3(PLEC):c.11601C>T:p.Asp3867=	coding	Benign
8	143918222	C	G	C143918222G	PLEC	NM_201384.3(PLEC):c.11599G>C:p.Asp3867His	coding	Benign
8	143918613	C	T	C143918613T	PLEC	NM_201384.3(PLEC):c.11208G>A:p.Pro3736=	coding	Benign
8	143918694	A	G	A143918694G	PLEC	NM_201384.3(PLEC):c.11127T>C:p.Ala3709=	coding	Benign
8	143918732	G	A	G143918732A	PLEC	NM_201384.3(PLEC):c.11089C>T:p.Leu3697=	coding	Benign/Likely_benign
8	143918835	G	A	G143918835A	PLEC	NM_201384.3(PLEC):c.10986C>T:p.Thr3662=	coding	Benign
8	143918901	G	A	G143918901A	PLEC	NM_201384.3(PLEC):c.10920C>T:p.Tyr3640=	coding	Benign
8	143918991	G	A	G143918991A	PLEC	NM_201384.3(PLEC):c.10830C>T:p.Ala3610=	coding	Benign
8	143919062	G	A	G143919062A	PLEC	NM_201384.3(PLEC):c.10759C>T:p.Leu3587=	coding	Benign/Likely_benign
8	143919156	C	T	C143919156T	PLEC	NM_201384.3(PLEC):c.10665G>A:p.Thr3555=	coding	Benign
8	143919209	A	G	A143919209G	PLEC	NM_201384.3(PLEC):c.10612T>C:p.Leu3538=	coding	Benign
8	143919270	C	T	C143919270T	PLEC	NM_201384.3(PLEC):c.10551G>A:p.Thr3517=	coding	Benign
8	143919324	G	A	G143919324A	PLEC	NM_201384.3(PLEC):c.10497C>T:p.Asn3499=	coding	Benign/Likely_benign
8	143919483	G	A	G143919483A	PLEC	NM_201384.3(PLEC):c.10338C>T:p.Ser3446=	coding	Benign/Likely_benign
8	143919525	G	T	G143919525T	PLEC	NM_201384.3(PLEC):c.10296C>A:p.Ala3432=	coding	Benign/Likely_benign
8	143919561	G	A	G143919561A	PLEC	NM_201384.3(PLEC):c.10260C>T:p.Pro3420=	coding	Benign/Likely_benign
8	143919573	G	A	G143919573A	PLEC	NM_201384.3(PLEC):c.10248C>T:p.Gly3416=	coding	Benign/Likely_benign
8	143919618	G	A	G143919618A	PLEC	NM_201384.3(PLEC):c.10203C>T:p.Pro3401=	coding	Benign/Likely_benign
8	143919763	C	G	C143919763G	PLEC	NM_201384.3(PLEC):c.10058G>C:p.Gly3353Ala	coding	Benign
8	143919775	G	A	G143919775A	PLEC	NM_201384.3(PLEC):c.10046C>T:p.Thr3349Met	coding	Benign
8	143919807	G	A	G143919807A	PLEC	NM_201384.3(PLEC):c.10014C>T:p.Val3338=	coding	Benign
8	143919855	G	A	G143919855A	PLEC	NM_201384.3(PLEC):c.9966C>T:p.Val3322=	coding	Benign
8	143919876	G	A	G143919876A	PLEC	NM_201384.3(PLEC):c.9945C>T:p.Ser3315=	coding	Benign
8	143919926	G	A	G143919926A	PLEC	NM_201384.3(PLEC):c.9895C>T:p.Arg3299Trp	coding	Benign/Likely_benign
8	143920044	A	T	A143920044T	PLEC	NM_201384.3(PLEC):c.9777T>A:p.Ser3259=	coding	Benign/Likely_benign
8	143920188	C	T	C143920188T	PLEC	NM_201384.3(PLEC):c.9633G>A:p.Pro3211=	coding	Benign/Likely_benign
8	143920386	G	A	G143920386A	PLEC	NM_201384.3(PLEC):c.9435C>T:p.Asp3145=	coding	Benign
8	143920398	G	A	G143920398A	PLEC	NM_201384.3(PLEC):c.9423C>T:p.Gly3141=	coding	Benign
8	143920413	G	A	G143920413A	PLEC	NM_201384.3(PLEC):c.9408C>T:p.Ala3136=	coding	Benign
8	143920470	G	A	G143920470A	PLEC	NM_201384.3(PLEC):c.9351C>T:p.Phe3117=	coding	Benign/Likely_benign
8	143920479	G	A	G143920479A	PLEC	NM_201384.3(PLEC):c.9342C>T:p.Val3114=	coding	Benign
8	143920635	G	A	G143920635A	PLEC	NM_201384.3(PLEC):c.9186C>T:p.Ala3062=	coding	Benign/Likely_benign
8	143920720	G	A	G143920720A	PLEC	NM_201384.3(PLEC):c.9101C>T:p.Ala3034Val	coding	Benign/Likely_benign
8	143920748	C	T	C143920748T	PLEC	NM_201384.3(PLEC):c.9073G>A:p.Val3025Ile	coding	Benign/Likely_benign
8	143920817	G	A	G143920817A	PLEC	NM_201384.3(PLEC):c.9004C>T:p.Arg3002Ter	coding	Pathogenic
8	143920845	G	A	G143920845A	PLEC	NM_201384.3(PLEC):c.8976C>T:p.Ile2992=	coding	Benign/Likely_benign
8	143920944	G	T	G143920944T	PLEC	NM_201384.3(PLEC):c.8877C>A:p.Ile2959=	coding	Benign/Likely_benign
8	143921001	G	C	G143921001C	PLEC	NM_201384.3(PLEC):c.8820C>G:p.Asp2940Glu	coding	Benign
8	143921196	G	A	G143921196A	PLEC	NM_201384.3(PLEC):c.8625C>T:p.Pro2875=	coding	Benign/Likely_benign
8	143921228	G	C	G143921228C	PLEC	NM_201384.3(PLEC):c.8593C>G:p.Leu2865Val	coding	Benign
8	143921326	C	T	C143921326T	PLEC	NM_201384.3(PLEC):c.8495G>A:p.Arg2832His	coding	Benign
8	143921332	T	C	T143921332C	PLEC	NM_201384.3(PLEC):c.8489A>G:p.Tyr2830Cys	coding	Benign/Likely_benign
8	143921376	A	G	A143921376G	PLEC	NM_201384.3(PLEC):c.8445T>C:p.Val2815=	coding	Benign/Likely_benign
8	143921376	A	T	A143921376T	PLEC	NM_201384.3(PLEC):c.8445T>A:p.Val2815=	coding	Benign
8	143921391	G	C	G143921391C	PLEC	NM_201384.3(PLEC):c.8430C>G:p.Ile2810Met	coding	Benign
8	143921490	G	A	G143921490A	PLEC	NM_201384.3(PLEC):c.8331C>T:p.Tyr2777=	coding	Benign/Likely_benign
8	143921502	G	A	G143921502A	PLEC	NM_201384.3(PLEC):c.8319C>T:p.Ala2773=	coding	Benign
8	143921568	G	A	G143921568A	PLEC	NM_201384.3(PLEC):c.8253C>T:p.Asn2751=	coding	Benign
8	143921639	T	C	T143921639C	PLEC	NM_201384.3(PLEC):c.8182A>G:p.Ile2728Val	coding	Benign/Likely_benign
8	143921771	G	A	G143921771A	PLEC	NM_201384.3(PLEC):c.8050C>T:p.Arg2684Trp	coding	Benign
8	143921781	G	A	G143921781A	PLEC	NM_201384.3(PLEC):c.8040C>T:p.Asp2680=	coding	Benign/Likely_benign
8	143921796	G	A	G143921796A	PLEC	NM_201384.3(PLEC):c.8025C>T:p.Gly2675=	coding	Benign/Likely_benign
8	143921809	C	T	C143921809T	PLEC	NM_201384.3(PLEC):c.8012G>A:p.Arg2671Gln	coding	Benign/Likely_benign
8	143921861	A	G	A143921861G	PLEC	NM_201384.3(PLEC):c.7960T>C:p.Ser2654Pro	coding	Benign
8	143921870	G	A	G143921870A	PLEC	NM_201384.3(PLEC):c.7951C>T:p.Arg2651Trp	coding	Benign/Likely_benign
8	143921941	G	C	G143921941C	PLEC	NM_201384.3(PLEC):c.7880C>G:p.Pro2627Arg	coding	Benign/Likely_benign
8	143921943	C	T	C143921943T	PLEC	NM_201384.3(PLEC):c.7878G>A:p.Leu2626=	coding	Benign
8	143922095	G	A	G143922095A	PLEC	NM_201384.3(PLEC):c.7726C>T:p.Leu2576=	coding	Benign
8	143922240	T	G	T143922240G	PLEC	NM_201384.3(PLEC):c.7581A>C:p.Ala2527=	coding	Benign
8	143922290	G	A	G143922290A	PLEC	NM_201384.3(PLEC):c.7531C>T:p.Gln2511Ter	coding	Pathogenic
8	143922315	C	T	C143922315T	PLEC	NM_201384.3(PLEC):c.7506G>A:p.Leu2502=	coding	Benign/Likely_benign
8	143922430	G	A	G143922430A	PLEC	NM_201384.3(PLEC):c.7426-35C>T	noncoding	Benign
8	143922467	G	A	G143922467A	PLEC	NM_201384.3(PLEC):c.7425+37C>T	noncoding	Benign
8	143922663	G	A	G143922663A	PLEC	NM_201384.3(PLEC):c.7266C>T:p.Leu2422=	coding	Benign
8	143922669	C	T	C143922669T	PLEC	NM_201384.3(PLEC):c.7260G>A:p.Thr2420=	coding	Benign/Likely_benign
8	143922749	G	A	G143922749A	PLEC	NM_201384.3(PLEC):c.7180C>T:p.Arg2394Ter	coding	Pathogenic
8	143922819	G	A	G143922819A	PLEC	NM_201384.3(PLEC):c.7110C>T:p.Ala2370=	coding	Benign
8	143922855	C	T	C143922855T	PLEC	NM_201384.3(PLEC):c.7074G>A:p.Ala2358=	coding	Benign/Likely_benign
8	143923019	G	A	G143923019A	PLEC	NM_201384.3(PLEC):c.6910C>T:p.Gln2304Ter	coding	Pathogenic
8	143923055	G	A	G143923055A	PLEC	NM_201384.3(PLEC):c.6874C>T:p.Arg2292Ter	coding	Pathogenic
8	143923172	C	T	C143923172T	PLEC	NM_201384.3(PLEC):c.6757G>A:p.Ala2253Thr	coding	Benign/Likely_benign
8	143923188	G	A	G143923188A	PLEC	NM_201384.3(PLEC):c.6741C>T:p.Ile2247=	coding	Benign
8	143923200	G	A	G143923200A	PLEC	NM_201384.3(PLEC):c.6729C>T:p.Leu2243=	coding	Benign/Likely_benign
8	143923352	G	A	G143923352A	PLEC	NM_201384.3(PLEC):c.6577C>T:p.Leu2193=	coding	Benign
8	143923416	C	T	C143923416T	PLEC	NM_201384.3(PLEC):c.6513G>A:p.Lys2171=	coding	Benign/Likely_benign
8	143923422	C	T	C143923422T	PLEC	NM_201384.3(PLEC):c.6507G>A:p.Lys2169=	coding	Benign/Likely_benign
8	143923437	G	A	G143923437A	PLEC	NM_201384.3(PLEC):c.6492C>T:p.Asp2164=	coding	Benign/Likely_benign
8	143923473	C	T	C143923473T	PLEC	NM_201384.3(PLEC):c.6456G>A:p.Ala2152=	coding	Benign/Likely_benign
8	143923488	C	T	C143923488T	PLEC	NM_201384.3(PLEC):c.6441G>A:p.Ala2147=	coding	Benign
8	143923521	C	T	C143923521T	PLEC	NM_201384.3(PLEC):c.6408G>A:p.Glu2136=	coding	Benign/Likely_benign
8	143923611	C	T	C143923611T	PLEC	NM_201384.3(PLEC):c.6318G>A:p.Gln2106=	coding	Benign/Likely_benign
8	143923615	G	A	G143923615A	PLEC	NM_201384.3(PLEC):c.6314C>T:p.Ala2105Val	coding	Benign
8	143923618	G	A	G143923618A	PLEC	NM_201384.3(PLEC):c.6311C>T:p.Ala2104Val	coding	Benign
8	143923759	G	A	G143923759A	PLEC	NM_201384.3(PLEC):c.6170C>T:p.Ala2057Val	coding	Benign
8	143923773	C	T	C143923773T	PLEC	NM_201384.3(PLEC):c.6156G>A:p.Lys2052=	coding	Benign
8	143923841	G	A	G143923841A	PLEC	NM_201384.3(PLEC):c.6088C>T:p.Gln2030Ter	coding	Pathogenic
8	143923850	G	A	G143923850A	PLEC	NM_201384.3(PLEC):c.6079C>T:p.Arg2027Ter	coding	Pathogenic
8	143923860	G	C	G143923860C	PLEC	NM_201384.3(PLEC):c.6069C>G:p.Arg2023=	coding	Benign/Likely_benign
8	143923870	T	G	T143923870G	PLEC	NM_201384.3(PLEC):c.6059A>C:p.Glu2020Ala	coding	Benign
8	143923908	C	T	C143923908T	PLEC	NM_201384.3(PLEC):c.6021G>A:p.Ala2007=	coding	Benign/Likely_benign
8	143923997	C	A	C143923997A	PLEC	NM_201384.3(PLEC):c.5932G>T:p.Glu1978Ter	coding	Pathogenic
8	143924001	C	T	C143924001T	PLEC	NM_201384.3(PLEC):c.5928G>A:p.Ala1976=	coding	Benign
8	143924007	C	G	C143924007G	PLEC	NM_201384.3(PLEC):c.5922G>C:p.Gln1974His	coding	Benign/Likely_benign
8	143924012	G	A	G143924012A	PLEC	NM_201384.3(PLEC):c.5917C>T:p.Arg1973Trp	coding	Pathogenic
8	143924022	A	G	A143924022G	PLEC	NM_201384.3(PLEC):c.5907T>C:p.Ala1969=	coding	Benign
8	143924064	C	T	C143924064T	PLEC	NM_201384.3(PLEC):c.5865G>A:p.Ala1955=	coding	Benign
8	143924217	G	A	G143924217A	PLEC	NM_201384.3(PLEC):c.5712C>T:p.Ser1904=	coding	Benign/Likely_benign
8	143924256	G	A	G143924256A	PLEC	NM_201384.3(PLEC):c.5673C>T:p.Ile1891=	coding	Benign/Likely_benign
8	143924276	C	T	C143924276T	PLEC	NM_201384.3(PLEC):c.5653G>A:p.Ala1885Thr	coding	Benign
8	143924327	G	A	G143924327A	PLEC	NM_201384.3(PLEC):c.5602C>T:p.Arg1868Trp	coding	Benign
8	143924346	C	T	C143924346T	PLEC	NM_201384.3(PLEC):c.5583G>A:p.Ala1861=	coding	Benign
8	143924436	C	T	C143924436T	PLEC	NM_201384.3(PLEC):c.5493G>A:p.Ala1831=	coding	Benign/Likely_benign
8	143924452	C	T	C143924452T	PLEC	NM_201384.3(PLEC):c.5477G>A:p.Arg1826Gln	coding	Benign
8	143924453	G	A	G143924453A	PLEC	NM_201384.3(PLEC):c.5476C>T:p.Arg1826Trp	coding	Benign/Likely_benign
8	143924458	G	A	G143924458A	PLEC	NM_201384.3(PLEC):c.5471C>T:p.Ala1824Val	coding	Benign/Likely_benign
8	143924613	C	T	C143924613T	PLEC	NM_201384.3(PLEC):c.5316G>A:p.Ala1772=	coding	Benign
8	143924625	C	T	C143924625T	PLEC	NM_201384.3(PLEC):c.5304G>A:p.Leu1768=	coding	Benign/Likely_benign
8	143924700	C	T	C143924700T	PLEC	NM_201384.3(PLEC):c.5229G>A:p.Ala1743=	coding	Benign/Likely_benign
8	143924764	G	A	G143924764A	PLEC	NM_201384.3(PLEC):c.5165C>T:p.Thr1722Met	coding	Benign/Likely_benign
8	143924847	C	G	C143924847G	PLEC	NM_201384.3(PLEC):c.5082G>C:p.Leu1694=	coding	Benign/Likely_benign
8	143924847	C	T	C143924847T	PLEC	NM_201384.3(PLEC):c.5082G>A:p.Leu1694=	coding	Benign/Likely_benign
8	143924864	G	A	G143924864A	PLEC	NM_201384.3(PLEC):c.5065C>T:p.Leu1689=	coding	Benign/Likely_benign
8	143924901	G	A	G143924901A	PLEC	NM_201384.3(PLEC):c.5028C>T:p.Arg1676=	coding	Benign/Likely_benign
8	143925056	C	T	C143925056T	PLEC	NM_201384.3(PLEC):c.4873G>A:p.Glu1625Lys	coding	Benign/Likely_benign
8	143925075	G	A	G143925075A	PLEC	NM_201384.3(PLEC):c.4854C>T:p.Ala1618=	coding	Benign/Likely_benign
8	143925249	C	T	C143925249T	PLEC	NM_201384.3(PLEC):c.4680G>A:p.Ala1560=	coding	Benign
8	143925254	G	A	G143925254A	PLEC	NM_201384.3(PLEC):c.4675C>T:p.Arg1559Ter	coding	Pathogenic
8	143925285	C	T	C143925285T	PLEC	NM_201384.3(PLEC):c.4644G>A:p.Ala1548=	coding	Benign/Likely_benign
8	143925294	C	T	C143925294T	PLEC	NM_201384.3(PLEC):c.4635G>A:p.Ala1545=	coding	Benign/Likely_benign
8	143925369	G	A	G143925369A	PLEC	NM_201384.3(PLEC):c.4560C>T:p.Arg1520=	coding	Benign/Likely_benign
8	143925372	C	T	C143925372T	PLEC	NM_201384.3(PLEC):c.4557G>A:p.Ser1519=	coding	Benign
8	143925453	C	T	C143925453T	PLEC	NM_201384.3(PLEC):c.4476G>A:p.Ala1492=	coding	Benign
8	143925474	A	C	A143925474C	PLEC	NM_201384.3(PLEC):c.4455T>G:p.Ala1485=	coding	Benign
8	143925516	A	G	A143925516G	PLEC	NM_201384.3(PLEC):c.4413T>C:p.Ala1471=	coding	Benign
8	143925674	G	A	G143925674A	PLEC	NM_201384.3(PLEC):c.4255C>T:p.Gln1419Ter	coding	Pathogenic
8	143925706	G	A	G143925706A	PLEC	NM_201384.3(PLEC):c.4223C>T:p.Ala1408Val	coding	Benign
8	143925708	C	T	C143925708T	PLEC	NM_201384.3(PLEC):c.4221G>A:p.Ala1407=	coding	Benign/Likely_benign
8	143925767	G	A	G143925767A	PLEC	NM_201384.3(PLEC):c.4162C>T:p.Arg1388Trp	coding	Benign
8	143925828	G	A	G143925828A	PLEC	NM_201384.3(PLEC):c.4101C>T:p.Ala1367=	coding	Benign/Likely_benign
8	143925846	C	T	C143925846T	PLEC	NM_201384.3(PLEC):c.4083G>A:p.Arg1361=	coding	Benign
8	143925888	T	C	T143925888C	PLEC	NM_201384.3(PLEC):c.4045-4A>G	noncoding	Benign
8	143926053	G	A	G143926053A	PLEC	NM_201384.3(PLEC):c.4045-169C>T	noncoding	Benign
8	143926153	C	T	C143926153T	PLEC	NM_201384.3(PLEC):c.4045-269G>A	noncoding	Benign
8	143926572	G	A	G143926572A	PLEC	NM_201384.3(PLEC):c.4044+212C>T	noncoding	Benign
8	143926641	G	A	G143926641A	PLEC	NM_201384.3(PLEC):c.4044+143C>T	noncoding	Benign
8	143926722	T	C	T143926722C	PLEC	NM_201384.3(PLEC):c.4044+62A>G	noncoding	Benign
8	143926730	A	G	A143926730G	PLEC	NM_201384.3(PLEC):c.4044+54T>C	noncoding	Benign
8	143926863	T	C	T143926863C	PLEC	NM_201384.3(PLEC):c.3965A>G:p.His1322Arg	coding	Benign
8	143927053	T	C	T143927053C	PLEC	NM_201384.3(PLEC):c.3869A>G:p.Lys1290Arg	coding	Benign
8	143927099	G	A	G143927099A	PLEC	NM_201384.3(PLEC):c.3841-18C>T	noncoding	Benign
8	143927132	T	A	T143927132A	PLEC	NM_201384.3(PLEC):c.3841-51A>T	noncoding	Benign
8	143927138	G	A	G143927138A	PLEC	NM_201384.3(PLEC):c.3841-57C>T	noncoding	Benign
8	143927143	T	C	T143927143C	PLEC	NM_201384.3(PLEC):c.3841-62A>G	noncoding	Benign
8	143927204	T	C	T143927204C	PLEC	NM_201384.3(PLEC):c.3840+48A>G	noncoding	Benign
8	143927314	G	C	G143927314C	PLEC	NM_201384.3(PLEC):c.3778C>G:p.Arg1260Gly	coding	Benign/Likely_benign
8	143927341	T	C	T143927341C	PLEC	NM_201384.3(PLEC):c.3757-6A>G	noncoding	Benign
8	143927344	T	C	T143927344C	PLEC	NM_201384.3(PLEC):c.3757-9A>G	noncoding	Benign/Likely_benign
8	143927420	C	T	C143927420T	PLEC	NM_201384.3(PLEC):c.3746G>A:p.Arg1249Gln	coding	Benign
8	143927421	G	T	G143927421T	PLEC	NM_201384.3(PLEC):c.3745C>A:p.Arg1249=	coding	Benign/Likely_benign
8	143927449	G	A	G143927449A	PLEC	NM_201384.3(PLEC):c.3717C>T:p.Ala1239=	coding	Benign
8	143927484	G	A	G143927484A	PLEC	NM_201384.3(PLEC):c.3682C>T:p.Arg1228Trp	coding	Benign
8	143927546	C	A	C143927546A	PLEC	NM_201384.3(PLEC):c.3620G>T:p.Arg1207Leu	coding	Benign/Likely_benign
8	143927616	A	G	A143927616G	PLEC	NM_201384.3(PLEC):c.3550T>C:p.Leu1184=	coding	Benign
8	143927623	G	A	G143927623A	PLEC	NM_201384.3(PLEC):c.3543C>T:p.Val1181=	coding	Benign/Likely_benign
8	143927875	C	T	C143927875T	PLEC	NM_201384.3(PLEC):c.3378G>A:p.Glu1126=	coding	Benign
8	143927902	G	A	G143927902A	PLEC	NM_201384.3(PLEC):c.3351C>T:p.Ala1117=	coding	Benign
8	143928005	C	T	C143928005T	PLEC	NM_201384.3(PLEC):c.3261-13G>A	noncoding	Benign
8	143928115	A	G	A143928115G	PLEC	NM_201384.3(PLEC):c.3261-123T>C	noncoding	Benign
8	143928263	C	G	C143928263G	PLEC	NM_201384.3(PLEC):c.3261-271G>C	noncoding	Benign
8	143929136	T	C	T143929136C	PLEC	NM_201384.3(PLEC):c.3227A>G:p.Gln1076Arg	coding	Benign/Likely_benign
8	143929153	C	T	C143929153T	PLEC	NM_201384.3(PLEC):c.3210G>A:p.Thr1070=	coding	Benign/Likely_benign
8	143929171	G	A	G143929171A	PLEC	NM_201384.3(PLEC):c.3192C>T:p.Arg1064=	coding	Benign
8	143929172	C	T	C143929172T	PLEC	NM_201384.3(PLEC):c.3191G>A:p.Arg1064His	coding	Benign/Likely_benign
8	143929517	C	T	C143929517T	PLEC	NM_201384.3(PLEC):c.2978G>A:p.Arg993Gln	coding	Benign/Likely_benign
8	143929534	G	A	G143929534A	PLEC	NM_201384.3(PLEC):c.2961C>T:p.Ser987=	coding	Benign
8	143929609	G	A	G143929609A	PLEC	NM_201384.3(PLEC):c.2923+37C>T	noncoding	Benign
8	143929737	G	A	G143929737A	PLEC	NM_201384.3(PLEC):c.2832C>T:p.Gly944=	coding	Benign
8	143930017	C	T	C143930017T	PLEC	NM_201384.3(PLEC):c.2658G>A:p.Leu886=	coding	Benign/Likely_benign
8	143930069	G	T	G143930069T	PLEC	NM_201384.3(PLEC):c.2613-7C>A	noncoding	Benign
8	143930208	C	T	C143930208T	PLEC	NM_201384.3(PLEC):c.2548G>A:p.Ala850Thr	coding	Benign
8	143930212	C	T	C143930212T	PLEC	NM_201384.3(PLEC):c.2544G>A:p.Glu848=	coding	Benign
8	143930248	C	T	C143930248T	PLEC	NM_201384.3(PLEC):c.2508G>A:p.Pro836=	coding	Benign/Likely_benign
8	143930378	G	A	G143930378A	PLEC	NM_201384.3(PLEC):c.2457+6C>T	noncoding	Benign
8	143930776	T	C	T143930776C	PLEC	NM_201384.3(PLEC):c.2305-240A>G	noncoding	Benign
8	143931273	T	C	T143931273C	PLEC	NM_201384.3(PLEC):c.2304+261A>G	noncoding	Benign
8	143931282	T	C	T143931282C	PLEC	NM_201384.3(PLEC):c.2304+252A>G	noncoding	Benign
8	143931621	C	T	C143931621T	PLEC	NM_201384.3(PLEC):c.2217G>A:p.Gln739=	coding	Benign
8	143931928	G	A	G143931928A	PLEC	NM_201384.3(PLEC):c.2178+9C>T	noncoding	Benign/Likely_benign
8	143931928	G	C	G143931928C	PLEC	NM_201384.3(PLEC):c.2178+9C>G	noncoding	Benign
8	143931975	T	C	T143931975C	PLEC	NM_201384.3(PLEC):c.2140A>G:p.Ile714Val	coding	Benign/Likely_benign
8	143932421	G	A	G143932421A	PLEC	NM_201384.3(PLEC):c.1956C>T:p.Thr652=	coding	Benign/Likely_benign
8	143932553	G	A	G143932553A	PLEC	NM_201384.3(PLEC):c.1824C>T:p.Ser608=	coding	Benign/Likely_benign
8	143932568	G	C	G143932568C	PLEC	NM_201384.3(PLEC):c.1816-7C>G	noncoding	Benign/Likely_benign
8	143932622	T	C	T143932622C	PLEC	NM_201384.3(PLEC):c.1815+13A>G	noncoding	Benign
8	143932625	C	T	C143932625T	PLEC	NM_201384.3(PLEC):c.1815+10G>A	noncoding	Benign
8	143932698	G	A	G143932698A	PLEC	NM_201384.3(PLEC):c.1752C>T:p.Pro584=	coding	Benign/Likely_benign
8	143932824	C	T	C143932824T	PLEC	NM_201384.3(PLEC):c.1706G>A:p.Arg569Gln	coding	Benign
8	143932901	C	A	C143932901A	PLEC	NM_201384.3(PLEC):c.1629G>T:p.Glu543Asp	coding	Benign/Likely_benign
8	143933019	G	A	G143933019A	PLEC	NM_201384.3(PLEC):c.1511C>T:p.Ala504Val	coding	Benign
8	143933157	G	A	G143933157A	PLEC	NM_201384.3(PLEC):c.1418+40C>T	noncoding	Benign
8	143933210	G	A	G143933210A	PLEC	NM_201384.3(PLEC):c.1405C>T:p.Gln469Ter	coding	Pathogenic
8	143933220	C	G	C143933220G	PLEC	NM_201384.3(PLEC):c.1395G>C:p.Pro465=	coding	Benign
8	143933241	G	A	G143933241A	PLEC	NM_201384.3(PLEC):c.1374C>T:p.Thr458=	coding	Benign/Likely_benign
8	143933331	T	C	T143933331C	PLEC	NM_201384.3(PLEC):c.1284A>G:p.Ala428=	coding	Benign
8	143933366	C	T	C143933366T	PLEC	NM_201384.3(PLEC):c.1264-15G>A	noncoding	Benign
8	143933779	G	A	G143933779A	PLEC	NM_201384.3(PLEC):c.1263+219C>T	noncoding	Benign
8	143933821	A	G	A143933821G	PLEC	NM_201384.3(PLEC):c.1263+177T>C	noncoding	Benign
8	143933998	C	T	C143933998T	PLEC	NM_201384.3(PLEC):c.1263G>A:p.Ser421=	coding	Pathogenic
8	143934025	C	T	C143934025T	PLEC	NM_201384.3(PLEC):c.1236G>A:p.Leu412=	coding	Benign
8	143934174	C	A	C143934174A	PLEC	NM_201384.3(PLEC):c.1170-83G>T	noncoding	Benign
8	143934275	A	T	A143934275T	PLEC	NM_201384.3(PLEC):c.1169+43T>A	noncoding	Benign
8	143934392	A	G	A143934392G	PLEC	NM_201384.3(PLEC):c.1095T>C:p.Asp365=	coding	Benign
8	143934449	T	C	T143934449C	PLEC	NM_201384.3(PLEC):c.1042-4A>G	noncoding	Benign/Likely_benign
8	143934538	C	T	C143934538T	PLEC	NM_201384.3(PLEC):c.1042-93G>A	noncoding	Benign
8	143934763	G	C	G143934763C	PLEC	NM_201384.3(PLEC):c.946-33C>G	noncoding	Benign
8	143934834	G	A	G143934834A	PLEC	NM_201384.3(PLEC):c.921C>T:p.Phe307=	coding	Benign/Likely_benign
8	143934868	C	T	C143934868T	PLEC	NM_201384.3(PLEC):c.887G>A:p.Arg296Gln	coding	Benign
8	143934901	C	T	C143934901T	PLEC	NM_201384.3(PLEC):c.854G>A:p.Arg285Gln	coding	Benign/Likely_benign
8	143934923	G	A	G143934923A	PLEC	NM_201384.3(PLEC):c.832C>T:p.Gln278Ter	coding	Pathogenic
8	143935035	G	A	G143935035A	PLEC	NM_201384.3(PLEC):c.801C>T:p.Asp267=	coding	Benign/Likely_benign
8	143935188	G	A	G143935188A	PLEC	NM_201384.3(PLEC):c.718+10C>T	noncoding	Benign
8	143935425	A	C	A143935425C	PLEC	NM_201384.3(PLEC):c.603-112T>G	noncoding	Benign
8	143935442	A	G	A143935442G	PLEC	NM_201384.3(PLEC):c.603-129T>C	noncoding	Benign
8	143935718	G	A	G143935718A	PLEC	NM_201384.3(PLEC):c.602+130C>T	noncoding	Benign
8	143935985	C	T	C143935985T	PLEC	NM_201384.3(PLEC):c.465G>A:p.Ser155=	coding	Benign
8	143936137	A	G	A143936137G	PLEC	NM_201384.3(PLEC):c.436-123T>C	noncoding	Benign
8	143936167	C	T	C143936167T	PLEC	NM_201384.3(PLEC):c.436-153G>A	noncoding	Benign
8	143936177	T	C	T143936177C	PLEC	NM_201384.3(PLEC):c.436-163A>G	noncoding	Benign
8	143937036	A	C	A143937036C	PLEC	NM_201384.3(PLEC):c.378T>G:p.Ala126=	coding	Benign/Likely_benign
8	143937036	A	G	A143937036G	PLEC	NM_201384.3(PLEC):c.378T>C:p.Ala126=	coding	Benign
8	143937152	C	T	C143937152T	PLEC	NM_201384.3(PLEC):c.342+13G>A	noncoding	Benign
8	143937258	G	C	G143937258C	PLEC	NM_201384.3(PLEC):c.265-16C>G	noncoding	Benign
8	143938038	G	A	G143938038A	PLEC	NM_201384.3(PLEC):c.264+113C>T	noncoding	Benign
8	143938163	C	T	C143938163T	PLEC	NM_201384.3(PLEC):c.252G>A:p.Ser84=	coding	Benign
8	143938246	G	A	G143938246A	PLEC	NM_201384.3(PLEC):c.175-6C>T	noncoding	Benign
8	143938298	A	G	A143938298G	PLEC	NM_201384.3(PLEC):c.175-58T>C	noncoding	Benign
8	143938609	C	G	C143938609G	PLEC	NM_201384.3(PLEC):c.174+22G>C	noncoding	Benign
8	143938633	T	C	T143938633C	PLEC	NM_201384.3(PLEC):c.172A>G:p.Lys58Glu	coding	Benign
8	143939147	G	T	G143939147T	PLEC	NM_201384.3(PLEC):c.112+203C>A	noncoding	Benign
8	143939177	C	T	C143939177T	PLEC	NM_201384.3(PLEC):c.112+173G>A	noncoding	Benign
8	143939347	T	C	T143939347C	PLEC	NM_201384.3(PLEC):c.112+3A>G	noncoding	Benign
8	143939404	T	C	T143939404C	PLEC	NM_201384.3(PLEC):c.58A>G:p.Ser20Gly	coding	Benign
8	143939416	G	A	G143939416A	PLEC	NM_201384.3(PLEC):c.46C>T:p.Arg16Ter	coding	Pathogenic
8	143939607	G	A	G143939607A	PLEC	NM_000445.5(PLEC):c.194-915C>T	noncoding	Benign
8	143939725	C	G	C143939725G	PLEC	NM_000445.5(PLEC):c.194-1033G>C	noncoding	Benign
8	143939781	C	T	C143939781T	PLEC	NM_000445.5(PLEC):c.194-1089G>A	noncoding	Benign
8	143944909	C	A	C143944909A	PLEC	NM_000445.5(PLEC):c.194-6217G>T	noncoding	Benign
8	143951130	C	T	C143951130T	PLEC	NM_000445.5(PLEC):c.194-12438G>A	noncoding	Benign
8	143953704	G	C	G143953704C	PLEC	NM_000445.5(PLEC):c.194-15012C>G	noncoding	Benign
8	143953830	G	A	G143953830A	PLEC	NM_000445.5(PLEC):c.194-15138C>T	coding	Benign
8	143975344	C	T	C143975344T	PLEC	NM_000445.5(PLEC):c.26G>A:p.Arg9Gln	coding	Benign
8	143976688	C	A	C143976688A	PLEC	NM_000445.5(PLEC):c.-7+15G>T	noncoding	Benign
8	143985270	G	A	G143985270A	PARP10	NM_032789.5(PARP10):c.732C>T:p.Val244=	coding	Benign
8	144079996	A	G	A144079996G	EXOSC4	NM_019037.3(EXOSC4):c.225A>G:p.Gln75=	coding	Benign
8	144083718	T	C	T144083718C	GPAA1	NM_003801.4(GPAA1):c.371T>C:p.Val124Ala	coding	Benign
8	144084146	C	T	C144084146T	GPAA1	NM_003801.4(GPAA1):c.629C>T:p.Ser210Phe	coding	Benign
8	144084422	G	C	G144084422C	GPAA1	NM_003801.4(GPAA1):c.823G>C:p.Glu275Gln	coding	Benign
8	144084845	C	T	C144084845T	GPAA1	NM_003801.4(GPAA1):c.1134C>T:p.Val378=	coding	Benign
8	144085313	G	A	G144085313A	GPAA1	NM_003801.4(GPAA1):c.1285G>A:p.Ala429Thr	coding	Benign
8	144085598	A	G	A144085598G	GPAA1	NM_003801.4(GPAA1):c.1477A>G:p.Arg493Gly	coding	Benign
8	144085661	G	A	G144085661A	GPAA1	NM_003801.4(GPAA1):c.1540G>A:p.Ala514Thr	coding	Benign
8	144085874	C	T	C144085874T	GPAA1	NM_003801.4(GPAA1):c.1623-8C>T	noncoding	Benign
8	144095198	T	G	T144095198G	CYC1	NM_001916.5(CYC1):c.99T>G:p.Arg33=	coding	Benign
8	144095991	G	T	G144095991T	CYC1	NM_001916.5(CYC1):c.288G>T:p.Trp96Cys	coding	Pathogenic
8	144096241	G	C	G144096241C	CYC1	NM_001916.5(CYC1):c.444G>C:p.Leu148=	coding	Benign
8	144096615	C	T	C144096615T	CYC1	NM_001916.5(CYC1):c.643C>T:p.Leu215Phe	coding	Pathogenic
8	144097318	A	C	A144097318C	CYC1	NM_001916.5(CYC1):c.960A>C:p.Ala320=	coding	Benign
8	144098948	C	T	C144098948T	SHARPIN	NM_030974.4(SHARPIN):c.1094G>A:p.Arg365His	coding	Benign
8	144099319	G	A	G144099319A	SHARPIN	NM_030974.4(SHARPIN):c.880C>T:p.Pro294Ser	coding	Benign
8	144099920	C	A	C144099920A	SHARPIN	NM_030974.4(SHARPIN):c.517+9G>T	noncoding	Benign
8	144103543	C	T	C144103543T	SHARPIN	NM_030974.4(SHARPIN):c.201+10G>A	noncoding	Benign
8	144103600	G	T	G144103600T	SHARPIN	NM_030974.4(SHARPIN):c.154C>A:p.Arg52=	coding	Benign
8	144105743	T	C	T144105743C	SHARPIN	NM_032272.5(MAF1):c.60T>C:p.Thr20=	coding	Benign
8	144291829	C	A	C144291829A	HSF1	NM_005526.4(HSF1):c.72C>A:p.Thr24=	coding	Benign
8	144309837	C	T	C144309837T	HSF1	NM_005526.4(HSF1):c.429C>T:p.Asp143=	coding	Benign
8	144316567	G	A	G144316567A	DGAT1	NM_012079.6(DGAT1):c.1454C>T:p.Ala485Val	coding	Benign
8	144316614	G	A	G144316614A	DGAT1	NM_012079.6(DGAT1):c.1407C>T:p.Val469=	coding	Benign
8	144316620	T	A	T144316620A	DGAT1	NM_012079.6(DGAT1):c.1401A>T:p.Ile467=	coding	Benign
8	144317931	G	A	G144317931A	DGAT1	NM_012079.6(DGAT1):c.838C>T:p.Arg280Ter	coding	Pathogenic
8	144318093	A	G	A144318093G	DGAT1	NM_012079.6(DGAT1):c.751+2T>C	noncoding	Pathogenic
8	144318103	G	T	G144318103T	DGAT1	NM_012079.6(DGAT1):c.743C>A:p.Thr248Asn	coding	Benign
8	144318173	C	T	C144318173T	DGAT1	NM_012079.6(DGAT1):c.677-4G>A	noncoding	Benign
8	144318358	G	A	G144318358A	DGAT1	NM_012079.6(DGAT1):c.579C>T:p.Gly193=	coding	Benign
8	144359179	T	C	T144359179C	SLC52A2	NM_001363118.2(SLC52A2):c.-110-5T>C	noncoding	Benign
8	144359385	G	C	G144359385C	SLC52A2	NM_001363118.2(SLC52A2):c.92G>C:p.Trp31Ser	coding	Pathogenic
8	144359801	C	T	C144359801T	SLC52A2	NM_001363118.2(SLC52A2):c.309C>T:p.Ala103=	coding	Benign
8	144359851	T	C	T144359851C	SLC52A2	NM_001363118.2(SLC52A2):c.359T>C:p.Val120Ala	coding	Benign/Likely_benign
8	144359860	T	C	T144359860C	SLC52A2	NM_001363118.2(SLC52A2):c.368T>C:p.Leu123Pro	coding	Pathogenic
8	144360047	C	T	C144360047T	SLC52A2	NM_001363118.2(SLC52A2):c.555C>T:p.Leu185=	coding	Benign
8	144360135	C	T	C144360135T	SLC52A2	NM_001363118.2(SLC52A2):c.643C>T:p.Leu215=	coding	Benign/Likely_benign
8	144360192	C	T	C144360192T	SLC52A2	NM_001363118.2(SLC52A2):c.700C>T:p.Gln234Ter	coding	Pathogenic
8	144360243	C	T	C144360243T	SLC52A2	NM_001363118.2(SLC52A2):c.751C>T:p.Gln251Ter	coding	Pathogenic
8	144360300	C	T	C144360300T	SLC52A2	NM_001363118.2(SLC52A2):c.808C>T:p.Gln270Ter	coding	Pathogenic
8	144360343	C	A	C144360343A	SLC52A2	NM_001363118.2(SLC52A2):c.851C>A:p.Ala284Asp	coding	Pathogenic
8	144360357	C	T	C144360357T	SLC52A2	NM_001363118.2(SLC52A2):c.865C>T:p.Leu289=	coding	Pathogenic
8	144360406	A	G	A144360406G	SLC52A2	NM_001363118.2(SLC52A2):c.914A>G:p.Tyr305Cys	coding	Pathogenic
8	144360408	G	A	G144360408A	SLC52A2	NM_001363118.2(SLC52A2):c.916G>A:p.Gly306Arg	coding	Pathogenic
8	144360427	T	C	T144360427C	SLC52A2	NM_001363118.2(SLC52A2):c.935T>C:p.Leu312Pro	coding	Pathogenic/Likely_pathogenic
8	144360499	C	T	C144360499T	SLC52A2	NM_001363118.2(SLC52A2):c.1001+6C>T	noncoding	Benign/Likely_benign
8	144360604	T	C	T144360604C	SLC52A2	NM_001363118.2(SLC52A2):c.1016T>C:p.Leu339Pro	coding	Pathogenic
8	144360654	C	T	C144360654T	SLC52A2	NM_001363118.2(SLC52A2):c.1066C>T:p.Leu356=	coding	Benign/Likely_benign
8	144360677	G	A	G144360677A	SLC52A2	NM_001363118.2(SLC52A2):c.1089G>A:p.Pro363=	coding	Benign
8	144360932	G	A	G144360932A	SLC52A2	NM_001363118.2(SLC52A2):c.1255G>A:p.Gly419Ser	coding	Pathogenic
8	144360997	A	G	A144360997G	SLC52A2	NM_001363118.2(SLC52A2):c.1320A>G:p.Ala440=	coding	Benign
8	144361034	C	T	C144361034T	SLC52A2	NM_001363118.2(SLC52A2):c.*19C>T	noncoding	Benign
8	144393592	T	C	T144393592C	CPSF1	NM_013291.3(CPSF1):c.4146-2A>G	noncoding	Pathogenic
8	144394149	C	A	C144394149A	CPSF1	NM_013291.3(CPSF1):c.3823G>T:p.Asp1275Tyr	coding	Pathogenic
8	144398338	G	A	G144398338A	CPSF1	NM_013291.3(CPSF1):c.1858C>T:p.Gln620Ter	coding	Pathogenic
8	144412631	G	A	G144412631A	SLC39A4	NM_130849.4(SLC39A4):c.1851C>T:p.Pro617=	coding	Benign
8	144412870	C	T	C144412870T	SLC39A4	NM_130849.4(SLC39A4):c.1704G>A:p.Thr568=	coding	Benign
8	144412915	C	G	C144412915G	SLC39A4	NM_130849.4(SLC39A4):c.1659G>C:p.Leu553=	coding	Benign
8	144413288	C	T	C144413288T	SLC39A4	NM_130849.4(SLC39A4):c.1576G>A:p.Gly526Arg	coding	Pathogenic
8	144413369	T	C	T144413369C	SLC39A4	NM_130849.4(SLC39A4):c.1495A>G:p.Met499Val	coding	Benign
8	144414291	C	T	C144414291T	SLC39A4	NM_130849.4(SLC39A4):c.1120G>A:p.Gly374Arg	coding	Pathogenic
8	144414342	T	C	T144414342C	SLC39A4	NM_130849.4(SLC39A4):c.1069A>G:p.Thr357Ala	coding	Benign
8	144414422	C	T	C144414422T	SLC39A4	NM_130849.4(SLC39A4):c.989G>A:p.Gly330Asp	coding	Pathogenic
8	144414753	G	A	G144414753A	SLC39A4	NM_130849.4(SLC39A4):c.948C>T:p.Pro316=	coding	Benign/Likely_benign
8	144414792	C	G	C144414792G	SLC39A4	NM_130849.4(SLC39A4):c.909G>C:p.Gln303His	coding	Pathogenic
8	144414851	C	T	C144414851T	SLC39A4	NM_130849.4(SLC39A4):c.850G>A:p.Glu284Lys	coding	Benign/Likely_benign
8	144415027	G	A	G144415027A	SLC39A4	NM_130849.4(SLC39A4):c.751C>T:p.Arg251Trp	coding	Benign
8	144415362	T	A	T144415362A	SLC39A4	NM_130849.4(SLC39A4):c.532A>T:p.Ser178Cys	coding	Benign
8	144415390	C	T	C144415390T	SLC39A4	NM_130849.4(SLC39A4):c.504G>A:p.Glu168=	coding	Benign/Likely_benign
8	144415944	C	T	C144415944T	SLC39A4	NM_130849.4(SLC39A4):c.340G>A:p.Ala114Thr	coding	Benign
8	144415963	G	A	G144415963A	SLC39A4	NM_130849.4(SLC39A4):c.321C>T:p.Pro107=	coding	Benign
8	144415966	G	T	G144415966T	SLC39A4	NM_130849.4(SLC39A4):c.318C>A:p.Asn106Lys	coding	Pathogenic
8	144416001	G	A	G144416001A	SLC39A4	NM_130849.4(SLC39A4):c.283C>T:p.Arg95Cys	coding	Pathogenic
8	144416008	G	A	G144416008A	SLC39A4	NM_130849.4(SLC39A4):c.276C>T:p.Tyr92=	coding	Benign
8	144416026	C	T	C144416026T	SLC39A4	NM_130849.4(SLC39A4):c.258G>A:p.Pro86=	coding	Benign
8	144416033	G	A	G144416033A	SLC39A4	NM_130849.4(SLC39A4):c.251C>T:p.Pro84Leu	coding	Benign/Likely_benign
8	144416059	G	A	G144416059A	SLC39A4	NM_130849.4(SLC39A4):c.225C>T:p.Gly75=	coding	Benign
8	144416593	G	T	G144416593T	SLC39A4	NM_130849.4(SLC39A4):c.192+5C>A	noncoding	Benign
8	144416618	C	T	C144416618T	SLC39A4	NM_130849.4(SLC39A4):c.172G>A:p.Ala58Thr	coding	Benign
8	144416724	C	T	C144416724T	SLC39A4	NM_130849.4(SLC39A4):c.66G>A:p.Ala22=	coding	Benign
8	144416780	G	A	G144416780A	SLC39A4	NM_130849.4(SLC39A4):c.10C>T:p.Leu4=	coding	Benign
8	144416810	A	C	A144416810C	SLC39A4	NM_130849.4(SLC39A4):c.-21T>G	noncoding	Benign
8	144432431	A	G	A144432431G	TONSL	NM_013432.5(TONSL):c.3589T>C:p.Ser1197Pro	coding	Pathogenic/Likely_pathogenic
8	144434854	C	T	C144434854T	TONSL	NM_013432.5(TONSL):c.3042G>A:p.Pro1014=	coding	Benign
8	144435526	G	A	G144435526A	TONSL	NM_013432.5(TONSL):c.2800C>T:p.Arg934Trp	coding	Pathogenic
8	144436026	G	A	G144436026A	TONSL	NM_013432.5(TONSL):c.2407C>T:p.Gln803Ter	coding	Pathogenic/Likely_pathogenic
8	144436070	C	T	C144436070T	TONSL	NM_013432.5(TONSL):c.2363G>A:p.Ser788Asn	coding	Benign
8	144437080	C	T	C144437080T	TONSL	NM_013432.5(TONSL):c.1673G>A:p.Arg558Gln	coding	Pathogenic
8	144440021	C	T	C144440021T	TONSL	NM_013432.5(TONSL):c.1480G>A:p.Glu494Lys	coding	Pathogenic
8	144440039	C	T	C144440039T	TONSL	NM_013432.5(TONSL):c.1462G>A:p.Val488Met	coding	Benign
8	144440042	C	T	C144440042T	TONSL	NM_013432.5(TONSL):c.1459G>A:p.Glu487Lys	coding	Pathogenic/Likely_pathogenic
8	144466443	C	T	C144466443T	KIFC2	NM_001369769.2(KIFC2):c.24C>T:p.Leu8=	coding	Benign
8	144473766	C	A	C144473766A	FOXH1	NM_003923.3(FOXH1):c.*472G>T	noncoding	Benign
8	144473927	G	A	G144473927A	FOXH1	NM_003923.3(FOXH1):c.*311C>T	noncoding	Benign
8	144474183	G	A	G144474183A	FOXH1	NM_003923.3(FOXH1):c.*55C>T	noncoding	Benign
8	144474218	T	C	T144474218C	FOXH1	NM_003923.3(FOXH1):c.*20A>G	noncoding	Benign
8	144474259	C	T	C144474259T	FOXH1	NM_003923.3(FOXH1):c.1077G>A:p.Leu359=	coding	Benign
8	144474313	G	A	G144474313A	FOXH1	NM_003923.3(FOXH1):c.1023C>T:p.Tyr341=	coding	Benign/Likely_benign
8	144474352	G	C	G144474352C	FOXH1	NM_003923.3(FOXH1):c.984C>G:p.Asp328Glu	coding	Benign/Likely_benign
8	144474424	C	T	C144474424T	FOXH1	NM_003923.3(FOXH1):c.912G>A:p.Pro304=	coding	Benign
8	144474553	A	G	A144474553G	FOXH1	NM_003923.3(FOXH1):c.783T>C:p.Pro261=	coding	Benign
8	144474565	G	A	G144474565A	FOXH1	NM_003923.3(FOXH1):c.771C>T:p.Gly257=	coding	Benign
8	144474565	G	T	G144474565T	FOXH1	NM_003923.3(FOXH1):c.771C>A:p.Gly257=	coding	Benign
8	144474719	G	A	G144474719A	FOXH1	NM_003923.3(FOXH1):c.617C>T:p.Thr206Ile	coding	Benign
8	144474886	G	A	G144474886A	FOXH1	NM_003923.3(FOXH1):c.450C>T:p.His150=	coding	Benign
8	144474963	T	A	T144474963A	FOXH1	NM_003923.3(FOXH1):c.373A>T:p.Thr125Ser	coding	Benign/Likely_benign
8	144474973	C	G	C144474973G	FOXH1	NM_003923.3(FOXH1):c.363G>C:p.Arg121=	coding	Benign
8	144474975	G	T	G144474975T	FOXH1	NM_003923.3(FOXH1):c.361C>A:p.Arg121=	coding	Benign/Likely_benign
8	144474998	C	G	C144474998G	FOXH1	NM_003923.3(FOXH1):c.338G>C:p.Ser113Thr	coding	Benign/Likely_benign
8	144475710	G	A	G144475710A	FOXH1	NM_003923.3(FOXH1):c.47C>T:p.Ser16Leu	coding	Benign
8	144475783	G	T	G144475783T	FOXH1	NM_003923.3(FOXH1):c.-27C>A	noncoding	Benign
8	144475810	G	A	G144475810A	FOXH1	NM_003923.3(FOXH1):c.-54C>T	noncoding	Benign
8	144476063	C	T	C144476063T	FOXH1	NC_000008.11:g.144476063C>T	noncoding	Benign
8	144476070	A	C	A144476070C	FOXH1	NM_003923.2(FOXH1):c.-314T>G	noncoding	Benign
8	144476089	A	G	A144476089G	FOXH1	NM_003923.2(FOXH1):c.-333T>C	noncoding	Benign
8	144504344	C	G	C144504344G	GPT	NM_005309.3(GPT):c.40C>G:p.His14Asp	coding	Benign
8	144504672	G	A	G144504672A	GPT	NM_005309.3(GPT):c.231G>A:p.Arg77=	coding	Benign
8	144504838	G	A	G144504838A	GPT	NM_005309.3(GPT):c.320G>A:p.Arg107Lys	coding	Benign
8	144505350	C	T	C144505350T	GPT	NM_005309.3(GPT):c.600C>T:p.Gly200=	coding	Benign
8	144505904	C	G	C144505904G	GPT	NM_005309.3(GPT):c.796C>G:p.Arg266Gly	coding	Benign
8	144506664	G	A	G144506664A	GPT	NM_005309.3(GPT):c.1287+8G>A	noncoding	Benign
8	144506731	G	C	G144506731C	GPT	NM_005309.3(GPT):c.1288G>C:p.Glu430Gln	coding	Benign
8	144506797	G	C	G144506797C	GPT	NM_005309.3(GPT):c.1354G>C:p.Val452Leu	coding	Benign
8	144511445	G	A	G144511445A	RECQL4	NM_004260.4(RECQL4):c.3613C>T:p.Gln1205Ter	coding	Pathogenic
8	144511464	C	T	C144511464T	RECQL4	NM_004260.3(RECQL4):c.3594G>A:p.Leu1198=	coding	Benign
8	144511495	A	G	A144511495G	RECQL4	NM_004260.3(RECQL4):c.3563T>C:p.Leu1188Pro	coding	Benign
8	144511527	G	A	G144511527A	RECQL4	NM_004260.3(RECQL4):c.3531C>T:p.Tyr1177=	coding	Benign
8	144511688	G	A	G144511688A	RECQL4	NM_004260.3(RECQL4):c.3495C>T:p.His1165=	coding	Benign
8	144511703	C	T	C144511703T	RECQL4	NM_004260.3(RECQL4):c.3480G>A:p.Val1160=	coding	Benign
8	144511750	G	A	G144511750A	RECQL4	NM_004260.4(RECQL4):c.3433C>T:p.Gln1145Ter	coding	Pathogenic
8	144511902	T	C	T144511902C	RECQL4	NM_004260.3(RECQL4):c.3393+9A>G	noncoding	Benign
8	144511903	G	A	G144511903A	RECQL4	NM_004260.3(RECQL4):c.3393+8C>T	noncoding	Benign
8	144511912	C	T	C144511912T	RECQL4	NM_004260.3(RECQL4):c.3392G>A:p.Arg1131Lys	coding	Benign
8	144511967	C	G	C144511967G	RECQL4	NM_004260.3(RECQL4):c.3337G>C:p.Gly1113Arg	coding	Benign
8	144511990	C	T	C144511990T	RECQL4	NM_004260.3(RECQL4):c.3314G>A:p.Gly1105Asp	coding	Benign/Likely_benign
8	144511991	C	T	C144511991T	RECQL4	NM_004260.3(RECQL4):c.3313G>A:p.Gly1105Ser	coding	Benign
8	144512024	C	A	C144512024A	RECQL4	NM_004260.3(RECQL4):c.3280G>T:p.Glu1094Ter	coding	Pathogenic
8	144512131	G	A	G144512131A	RECQL4	NM_004260.3(RECQL4):c.3236+13C>T	noncoding	Benign
8	144512187	G	A	G144512187A	RECQL4	NM_004260.4(RECQL4):c.3193C>T:p.Gln1065Ter	coding	Pathogenic
8	144512232	G	A	G144512232A	RECQL4	NM_004260.3(RECQL4):c.3148C>T:p.Gln1050Ter	coding	Pathogenic
8	144512247	C	T	C144512247T	RECQL4	NM_004260.3(RECQL4):c.3133G>A:p.Ala1045Thr	coding	Benign
8	144512253	A	G	A144512253G	RECQL4	NM_004260.3(RECQL4):c.3127=:p.Leu1043=	coding	Benign
8	144512319	G	A	G144512319A	RECQL4	NM_004260.3(RECQL4):c.3061C>T:p.Arg1021Trp	coding	Pathogenic
8	144512322	C	T	C144512322T	RECQL4	NM_004260.3(RECQL4):c.3058G>A:p.Val1020Met	coding	Benign
8	144512422	G	A	G144512422A	RECQL4	NM_004260.3(RECQL4):c.3025C>T:p.Gln1009Ter	coding	Pathogenic
8	144512433	C	T	C144512433T	RECQL4	NM_004260.3(RECQL4):c.3014G>A:p.Arg1005Gln	coding	Benign
8	144512438	C	T	C144512438T	RECQL4	NM_004260.3(RECQL4):c.3009G>A:p.Val1003=	coding	Benign
8	144512658	G	A	G144512658A	RECQL4	NM_004260.3(RECQL4):c.2869C>T:p.Gln957Ter	coding	Pathogenic
8	144512725	C	T	C144512725T	RECQL4	NM_004260.4(RECQL4):c.2802G>A:p.Trp934Ter	coding	Pathogenic
8	144512779	C	A	C144512779A	RECQL4	NM_004260.3(RECQL4):c.2756-8G>T	noncoding	Benign
8	144512846	C	T	C144512846T	RECQL4	NM_004260.3(RECQL4):c.2755+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	144512850	C	A	C144512850A	RECQL4	NM_004260.3(RECQL4):c.2752G>T:p.Glu918Ter	coding	Pathogenic
8	144512940	G	A	G144512940A	RECQL4	NM_004260.3(RECQL4):c.2662C>T:p.Gln888Ter	coding	Pathogenic/Likely_pathogenic
8	144512966	G	T	G144512966T	RECQL4	NM_004260.3(RECQL4):c.2636C>A:p.Pro879His	coding	Benign
8	144512968	G	T	G144512968T	RECQL4	NM_004260.3(RECQL4):c.2634C>A:p.Pro878=	coding	Benign
8	144513001	G	C	G144513001C	RECQL4	NM_004260.3(RECQL4):c.2601C>G:p.Ala867=	coding	Benign
8	144513012	G	A	G144513012A	RECQL4	NM_004260.3(RECQL4):c.2590C>T:p.Gln864Ter	coding	Pathogenic
8	144513058	G	A	G144513058A	RECQL4	NM_004260.3(RECQL4):c.2544C>T:p.Arg848=	coding	Benign
8	144513063	G	A	G144513063A	RECQL4	NM_004260.4(RECQL4):c.2539C>T:p.Gln847Ter	coding	Pathogenic
8	144513126	G	A	G144513126A	RECQL4	NM_004260.3(RECQL4):c.2476C>T:p.Arg826Ter	coding	Pathogenic
8	144513135	C	T	C144513135T	RECQL4	NM_004260.3(RECQL4):c.2467G>A:p.Glu823Lys	coding	Benign
8	144513139	C	G	C144513139G	RECQL4	NM_004260.3(RECQL4):c.2464-1G>C	coding	Pathogenic
8	144513139	C	T	C144513139T	RECQL4	NM_004260.3(RECQL4):c.2464-1G>A	coding	Pathogenic
8	144513202	G	T	G144513202T	RECQL4	NM_004260.3(RECQL4):c.2463+16C>A	noncoding	Benign
8	144513212	G	A	G144513212A	RECQL4	NM_004260.3(RECQL4):c.2463+6C>T	noncoding	Benign
8	144513221	G	A	G144513221A	RECQL4	NM_004260.3(RECQL4):c.2460C>T:p.Pro820=	coding	Benign
8	144513266	G	A	G144513266A	RECQL4	NM_004260.3(RECQL4):c.2415C>T:p.Ala805=	coding	Benign
8	144513286	C	T	C144513286T	RECQL4	NM_004260.3(RECQL4):c.2395G>A:p.Val799Met	coding	Benign
8	144513304	G	A	G144513304A	RECQL4	NM_004260.3(RECQL4):c.2377C>T:p.Pro793Ser	coding	Benign
8	144513409	G	A	G144513409A	RECQL4	NM_004260.3(RECQL4):c.2272C>T:p.Arg758Ter	coding	Pathogenic/Likely_pathogenic
8	144513412	G	A	G144513412A	RECQL4	NM_004260.3(RECQL4):c.2269C>T:p.Gln757Ter	coding	Pathogenic
8	144513443	C	T	C144513443T	RECQL4	NM_004260.3(RECQL4):c.2238G>A:p.Ala746=	coding	Benign
8	144513458	G	A	G144513458A	RECQL4	NM_004260.3(RECQL4):c.2223C>T:p.Ala741=	coding	Benign
8	144513610	G	A	G144513610A	RECQL4	NM_004260.3(RECQL4):c.2161C>T:p.Arg721Ter	coding	Pathogenic
8	144513640	C	T	C144513640T	RECQL4	NM_004260.3(RECQL4):c.2131G>A:p.Glu711Lys	coding	Benign
8	144513685	G	T	G144513685T	RECQL4	NM_004260.3(RECQL4):c.2086C>A:p.Arg696Ser	coding	Benign
8	144513713	C	A	C144513713A	RECQL4	NM_004260.3(RECQL4):c.2059-1G>T	coding	Pathogenic
8	144513713	C	G	C144513713G	RECQL4	NM_004260.3(RECQL4):c.2059-1G>C	coding	Pathogenic
8	144513713	C	T	C144513713T	RECQL4	NM_004260.3(RECQL4):c.2059-1G>A	coding	Pathogenic
8	144514026	G	A	G144514026A	RECQL4	NM_004260.3(RECQL4):c.1960C>T:p.Gln654Ter	coding	Pathogenic
8	144514027	T	C	T144514027C	RECQL4	NM_004260.3(RECQL4):c.1959A>G:p.Ala653=	coding	Benign
8	144514032	C	T	C144514032T	RECQL4	NM_004260.3(RECQL4):c.1954G>A:p.Val652Met	coding	Benign/Likely_benign
8	144514087	G	A	G144514087A	RECQL4	NM_004260.3(RECQL4):c.1899C>T:p.Gly633=	coding	Benign
8	144514122	G	T	G144514122T	RECQL4	NM_004260.3(RECQL4):c.1879-15C>A	noncoding	Benign/Likely_benign
8	144514207	G	T	G144514207T	RECQL4	NM_004260.4(RECQL4):c.1860C>A:p.Cys620Ter	coding	Pathogenic
8	144514229	C	T	C144514229T	RECQL4	NM_004260.3(RECQL4):c.1838G>A:p.Trp613Ter	coding	Pathogenic
8	144514233	G	A	G144514233A	RECQL4	NM_004260.3(RECQL4):c.1834C>T:p.Gln612Ter	coding	Pathogenic
8	144514251	C	A	C144514251A	RECQL4	NM_004260.3(RECQL4):c.1816G>T:p.Glu606Ter	coding	Pathogenic
8	144514295	G	A	G144514295A	RECQL4	NM_004260.3(RECQL4):c.1772C>T:p.Pro591Leu	coding	Benign
8	144514350	G	A	G144514350A	RECQL4	NM_004260.3(RECQL4):c.1717C>T:p.Gln573Ter	coding	Pathogenic/Likely_pathogenic
8	144514433	G	A	G144514433A	RECQL4	NM_004260.3(RECQL4):c.1704+9C>T	noncoding	Benign/Likely_benign
8	144514441	C	T	C144514441T	RECQL4	NM_004260.3(RECQL4):c.1704+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	144514447	G	A	G144514447A	RECQL4	NM_004260.3(RECQL4):c.1699C>T:p.Gln567Ter	coding	Pathogenic
8	144514521	G	A	G144514521A	RECQL4	NM_004260.3(RECQL4):c.1625C>T:p.Ser542Phe	coding	Benign
8	144514533	T	C	T144514533C	RECQL4	NM_004260.3(RECQL4):c.1621-8A>G	noncoding	Benign/Likely_benign
8	144514540	G	A	G144514540A	RECQL4	NM_004260.3(RECQL4):c.1621-15C>T	noncoding	Benign
8	144514980	G	A	G144514980A	RECQL4	NM_004260.3(RECQL4):c.1576C>T:p.Leu526Phe	coding	Benign
8	144514991	C	T	C144514991T	RECQL4	NM_004260.3(RECQL4):c.1565G>A:p.Arg522His	coding	Benign
8	144514992	G	A	G144514992A	RECQL4	NM_004260.3(RECQL4):c.1564C>T:p.Arg522Cys	coding	Benign
8	144515198	G	A	G144515198A	RECQL4	NM_004260.4(RECQL4):c.1435C>T:p.Gln479Ter	coding	Pathogenic
8	144515235	C	T	C144515235T	RECQL4	NM_004260.3(RECQL4):c.1398G>A:p.Pro466=	coding	Benign
8	144515238	C	T	C144515238T	RECQL4	NM_004260.3(RECQL4):c.1395G>A:p.Thr465=	coding	Benign/Likely_benign
8	144515243	C	T	C144515243T	RECQL4	NM_004260.3(RECQL4):c.1391-1G>A	coding	Pathogenic
8	144515244	T	C	T144515244C	RECQL4	NM_004260.4(RECQL4):c.1391-2A>G	noncoding	Pathogenic
8	144515368	C	T	C144515368T	RECQL4	NM_004260.3(RECQL4):c.1348G>A:p.Val450Met	coding	Benign
8	144515449	C	A	C144515449A	RECQL4	NM_004260.4(RECQL4):c.1267G>T:p.Glu423Ter	coding	Pathogenic
8	144515458	C	T	C144515458T	RECQL4	NM_004260.3(RECQL4):c.1259-1G>A	coding	Pathogenic/Likely_pathogenic
8	144515746	C	T	C144515746T	RECQL4	NM_004260.3(RECQL4):c.1258+18G>A	noncoding	Benign
8	144515758	T	A	T144515758A	RECQL4	NM_004260.3(RECQL4):c.1258+6A>T	noncoding	Benign
8	144515786	C	T	C144515786T	RECQL4	NM_004260.3(RECQL4):c.1236G>A:p.Trp412Ter	coding	Pathogenic
8	144515873	C	T	C144515873T	RECQL4	NM_004260.3(RECQL4):c.1149G>A:p.Trp383Ter	coding	Pathogenic
8	144515885	C	T	C144515885T	RECQL4	NM_004260.4(RECQL4):c.1137G>A:p.Trp379Ter	coding	Pathogenic
8	144515979	C	T	C144515979T	RECQL4	NM_004260.3(RECQL4):c.1131+9G>A	noncoding	Benign
8	144515990	G	A	G144515990A	RECQL4	NM_004260.4(RECQL4):c.1129C>T:p.Gln377Ter	coding	Pathogenic
8	144516029	C	T	C144516029T	RECQL4	NM_004260.3(RECQL4):c.1090G>A:p.Val364Met	coding	Benign
8	144516030	G	C	G144516030C	RECQL4	NM_004260.4(RECQL4):c.1089C>G:p.Tyr363Ter	coding	Pathogenic/Likely_pathogenic
8	144516194	G	A	G144516194A	RECQL4	NM_004260.3(RECQL4):c.925C>T:p.Gln309Ter	coding	Pathogenic
8	144516209	G	A	G144516209A	RECQL4	NM_004260.3(RECQL4):c.910C>T:p.Gln304Ter	coding	Pathogenic
8	144516218	C	T	C144516218T	RECQL4	NM_004260.3(RECQL4):c.901G>A:p.Glu301Lys	coding	Benign
8	144516228	G	A	G144516228A	RECQL4	NM_004260.3(RECQL4):c.891C>T:p.Asp297=	coding	Benign
8	144516313	C	T	C144516313T	RECQL4	NM_004260.3(RECQL4):c.806G>A:p.Trp269Ter	coding	Pathogenic
8	144516318	C	G	C144516318G	RECQL4	NM_004260.3(RECQL4):c.801G>C:p.Glu267Asp	coding	Benign
8	144516327	C	T	C144516327T	RECQL4	NM_004260.3(RECQL4):c.792G>A:p.Trp264Ter	coding	Pathogenic
8	144516364	G	A	G144516364A	RECQL4	NM_004260.3(RECQL4):c.755C>T:p.Pro252Leu	coding	Benign
8	144516381	G	A	G144516381A	RECQL4	NM_004260.3(RECQL4):c.738C>T:p.Ser246=	coding	Benign
8	144516478	G	T	G144516478T	RECQL4	NM_004260.3(RECQL4):c.641C>A:p.Ser214Ter	coding	Pathogenic
8	144516486	A	G	A144516486G	RECQL4	NM_004260.3(RECQL4):c.633T>C:p.Asp211=	coding	Benign
8	144516504	G	C	G144516504C	RECQL4	NM_004260.3(RECQL4):c.615C>G:p.Pro205=	coding	Benign/Likely_benign
8	144516545	G	A	G144516545A	RECQL4	NM_004260.3(RECQL4):c.574C>T:p.Gln192Ter	coding	Pathogenic
8	144516554	C	T	C144516554T	RECQL4	NM_004260.3(RECQL4):c.565G>A:p.Gly189Ser	coding	Benign
8	144516576	C	T	C144516576T	RECQL4	NM_004260.3(RECQL4):c.543G>A:p.Gln181=	coding	Benign/Likely_benign
8	144516602	G	A	G144516602A	RECQL4	NM_004260.3(RECQL4):c.517C>T:p.Gln173Ter	coding	Pathogenic
8	144516627	C	T	C144516627T	RECQL4	NM_004260.3(RECQL4):c.492G>A:p.Glu164=	coding	Benign
8	144516654	G	C	G144516654C	RECQL4	NM_004260.3(RECQL4):c.465C>G:p.Val155=	coding	Benign
8	144516772	G	A	G144516772A	RECQL4	NM_004260.3(RECQL4):c.355-8C>T	noncoding	Benign
8	144517089	G	C	G144517089C	RECQL4	NM_004260.3(RECQL4):c.315C>G:p.Tyr105Ter	coding	Pathogenic
8	144517104	G	A	G144517104A	RECQL4	NM_004260.3(RECQL4):c.300C>T:p.Gly100=	coding	Benign
8	144517129	G	A	G144517129A	RECQL4	NM_004260.3(RECQL4):c.275C>T:p.Pro92Leu	coding	Benign/Likely_benign
8	144517130	A	G	A144517130G	RECQL4	NM_004260.3(RECQL4):c.274=:p.Pro92=	coding	Benign
8	144517415	T	C	T144517415C	RECQL4	NM_004260.3(RECQL4):c.212A>G:p.Glu71Gly	coding	Benign
8	144517432	G	C	G144517432C	RECQL4	NM_004260.3(RECQL4):c.195C>G:p.Leu65=	coding	Benign
8	144517456	G	A	G144517456A	RECQL4	NM_004260.3(RECQL4):c.171C>T:p.Gly57=	coding	Benign/Likely_benign
8	144517466	T	C	T144517466C	RECQL4	NM_004260.3(RECQL4):c.161A>G:p.Gln54Arg	coding	Benign/Likely_benign
8	144517495	T	C	T144517495C	RECQL4	NM_004260.3(RECQL4):c.132A>G:p.Glu44=	coding	Benign
8	144517703	G	A	G144517703A	RECQL4	NM_004260.3(RECQL4):c.82C>T:p.Gln28Ter	coding	Pathogenic
8	144519798	T	C	T144519798C	RECQL4	NM_014665.4(LRRC14):c.73T>C:p.Leu25=	coding	Benign
8	144545316	G	A	G144545316A	ARHGAP39	NM_025251.2(ARHGAP39):c.2454C>T:p.Thr818=	coding	Benign
8	144548405	G	C	G144548405C	ARHGAP39	NM_025251.2(ARHGAP39):c.681C>G:p.Ala227=	coding	Benign
8	145053409	C	T	C145053409T	C8orf33	NM_023080.3(C8orf33):c.516C>T:p.Ala172=	coding	Benign
8	145054093	C	G	C145054093G	C8orf33	NM_023080.3(C8orf33):c.626C>G:p.Ser209Cys	coding	Benign
9	154795	T	C	T154795C	CBWD1	NM_018491.4(CBWD1):c.576A>G:p.Arg192=	coding	Benign
9	214804	A	G	A214804G	DOCK8	NM_203447.3(DOCK8):c.-173A>G	coding	Benign
9	214864	C	T	C214864T	DOCK8	NM_203447.3(DOCK8):c.-113C>T	coding	Benign
9	214908	T	C	T214908C	DOCK8	NM_203447.3(DOCK8):c.-69T>C	coding	Benign
9	214991	G	A	G214991A	DOCK8	NM_203447.3(DOCK8):c.15G>A:p.Pro5=	coding	Benign
9	215057	T	C	T215057C	DOCK8	NM_203447.3(DOCK8):c.53+28T>C	coding	Benign
9	215269	A	C	A215269C	DOCK8	NM_203447.3(DOCK8):c.53+240A>C	coding	Benign
9	271455	T	C	T271455C	DOCK8	NM_203447.3(DOCK8):c.54-172T>C	noncoding	Benign
9	271467	C	T	C271467T	DOCK8	NM_203447.3(DOCK8):c.54-160C>T	noncoding	Benign
9	271518	T	C	T271518C	DOCK8	NM_203447.3(DOCK8):c.54-109T>C	noncoding	Benign
9	271534	A	G	A271534G	DOCK8	NM_203447.3(DOCK8):c.54-93A>G	noncoding	Benign
9	271638	C	T	C271638T	DOCK8	NM_203447.4(DOCK8):c.65C>T:p.Ala22Val	coding	Benign
9	271822	A	G	A271822G	DOCK8	NM_203447.3(DOCK8):c.156+93A>G	noncoding	Benign
9	271864	T	C	T271864C	DOCK8	NM_203447.3(DOCK8):c.156+135T>C	noncoding	Benign
9	272033	A	G	A272033G	DOCK8	NM_203447.3(DOCK8):c.156+304A>G	noncoding	Benign
9	286491	G	A	G286491A	DOCK8	NM_203447.4(DOCK8):c.187G>A:p.Asp63Asn	coding	Benign
9	286571	C	T	C286571T	DOCK8	NM_203447.3(DOCK8):c.267C>T:p.Asp89=	coding	Benign
9	286593	C	A	C286593A	DOCK8	NM_203447.4(DOCK8):c.289C>A:p.Pro97Thr	coding	Benign
9	286645	T	G	T286645G	DOCK8	NM_203447.3(DOCK8):c.332+9T>G	noncoding	Benign/Likely_benign
9	286824	G	A	G286824A	DOCK8	NM_203447.3(DOCK8):c.332+188G>A	noncoding	Benign
9	289472	C	T	C289472T	DOCK8	NM_203447.3(DOCK8):c.333-38C>T	noncoding	Benign
9	289557	G	A	G289557A	DOCK8	NM_203447.3(DOCK8):c.380G>A:p.Arg127His	coding	Benign/Likely_benign
9	289869	T	C	T289869C	DOCK8	NM_203447.3(DOCK8):c.404+288T>C	noncoding	Benign
9	304711	C	A	C304711A	DOCK8	NM_203447.3(DOCK8):c.528+7C>A	noncoding	Benign
9	304717	A	G	A304717G	DOCK8	NM_203447.4(DOCK8):c.528+13A>G	noncoding	Benign
9	312065	C	T	C312065T	DOCK8	NM_203447.3(DOCK8):c.640C>T:p.Leu214=	coding	Benign/Likely_benign
9	312104	G	A	G312104A	DOCK8	NM_203447.3(DOCK8):c.679G>A:p.Glu227Lys	coding	Benign
9	312124	T	C	T312124C	DOCK8	NM_203447.4(DOCK8):c.699T>C:p.Asn233=	coding	Benign
9	312134	G	A	G312134A	DOCK8	NM_203447.4(DOCK8):c.709G>A:p.Glu237Lys	coding	Benign
9	316998	C	T	C316998T	DOCK8	NM_203447.3(DOCK8):c.742-45C>T	noncoding	Benign
9	317370	G	C	G317370C	DOCK8	NM_203447.3(DOCK8):c.827+242G>C	noncoding	Benign
9	325402	T	C	T325402C	DOCK8	NM_203447.3(DOCK8):c.828-269T>C	noncoding	Benign
9	325993	G	A	G325993A	DOCK8	NM_203447.3(DOCK8):c.894+256G>A	noncoding	Benign
9	327962	A	G	A327962G	DOCK8	NM_203447.3(DOCK8):c.895-60A>G	noncoding	Benign
9	328006	T	C	T328006C	DOCK8	NM_203447.4(DOCK8):c.895-16T>C	noncoding	Benign
9	328076	C	T	C328076T	DOCK8	NM_203447.3(DOCK8):c.949C>T:p.Arg317Ter	coding	Pathogenic
9	328079	G	A	G328079A	DOCK8	NM_203447.3(DOCK8):c.952G>A:p.Ala318Thr	coding	Benign
9	328144	G	A	G328144A	DOCK8	NM_203447.3(DOCK8):c.1017G>A:p.Pro339=	coding	Benign/Likely_benign
9	334104	T	A	T334104A	DOCK8	NM_203447.3(DOCK8):c.1126-121T>A	noncoding	Benign
9	334337	A	G	A334337G	DOCK8	NM_203447.4(DOCK8):c.1238A>G:p.Asn413Ser	coding	Benign
9	334524	G	A	G334524A	DOCK8	NM_203447.3(DOCK8):c.1285+140G>A	noncoding	Benign
9	334666	T	C	T334666C	DOCK8	NM_203447.3(DOCK8):c.1285+282T>C	noncoding	Benign
9	336652	G	A	G336652A	DOCK8	NM_203447.3(DOCK8):c.1356G>A:p.Leu452=	coding	Benign
9	336714	A	G	A336714G	DOCK8	NM_203447.3(DOCK8):c.1418A>G:p.Lys473Arg	coding	Pathogenic
9	338713	C	G	C338713G	DOCK8	NM_203447.3(DOCK8):c.1423-293C>G	noncoding	Benign
9	338906	G	A	G338906A	DOCK8	NM_203447.3(DOCK8):c.1423-100G>A	noncoding	Benign
9	340229	C	G	C340229G	DOCK8	NM_203447.3(DOCK8):c.1587C>G:p.Pro529=	coding	Benign/Likely_benign
9	367887	A	T	A367887T	DOCK8	NM_203447.3(DOCK8):c.1680-131A>T	noncoding	Benign
9	368030	T	C	T368030C	DOCK8	NM_203447.4(DOCK8):c.1692T>C:p.Tyr564=	coding	Benign
9	368128	C	T	C368128T	DOCK8	NM_203447.4(DOCK8):c.1790C>T:p.Ala597Val	coding	Benign
9	368288	G	A	G368288A	DOCK8	NM_203447.3(DOCK8):c.1797+153G>A	noncoding	Benign
9	368289	T	C	T368289C	DOCK8	NM_203447.3(DOCK8):c.1797+154T>C	noncoding	Benign
9	368522	A	G	A368522G	DOCK8	NM_203447.3(DOCK8):c.1797+387A>G	noncoding	Benign
9	370199	A	G	A370199G	DOCK8	NM_203447.3(DOCK8):c.1798-31A>G	noncoding	Benign
9	370244	A	G	A370244G	DOCK8	NM_203447.4(DOCK8):c.1812A>G:p.Lys604=	coding	Benign
9	370370	G	C	G370370C	DOCK8	NM_203447.3(DOCK8):c.1868+70G>C	noncoding	Benign
9	370439	G	A	G370439A	DOCK8	NM_203447.3(DOCK8):c.1868+139G>A	noncoding	Benign
9	370531	A	G	A370531G	DOCK8	NM_203447.3(DOCK8):c.1868+231A>G	noncoding	Benign
9	371522	C	T	C371522T	DOCK8	NM_203447.4(DOCK8):c.1963C>T:p.Gln655Ter	coding	Pathogenic
9	371766	A	G	A371766G	DOCK8	NM_203447.3(DOCK8):c.2007+200A>G	noncoding	Benign
9	372092	G	A	G372092A	DOCK8	NM_203447.3(DOCK8):c.2008-93G>A	noncoding	Benign
9	372121	G	A	G372121A	DOCK8	NM_203447.3(DOCK8):c.2008-64G>A	noncoding	Benign
9	372341	C	T	C372341T	DOCK8	NM_203447.3(DOCK8):c.2109+55C>T	noncoding	Benign
9	376119	T	C	T376119C	DOCK8	NM_203447.3(DOCK8):c.2110-91T>C	noncoding	Benign
9	376122	C	T	C376122T	DOCK8	NM_203447.3(DOCK8):c.2110-88C>T	noncoding	Benign
9	376179	T	A	T376179A	DOCK8	NM_203447.3(DOCK8):c.2110-31T>A	noncoding	Benign
9	376538	G	T	G376538T	DOCK8	NM_203447.3(DOCK8):c.2205+233G>T	noncoding	Benign
9	377066	C	T	C377066T	DOCK8	NM_203447.4(DOCK8):c.2295C>T:p.Ser765=	coding	Benign
9	377081	G	A	G377081A	DOCK8	NM_203447.3(DOCK8):c.2310G>A:p.Glu770=	coding	Benign
9	377111	G	C	G377111C	DOCK8	NM_203447.4(DOCK8):c.2340G>C:p.Leu780=	coding	Benign
9	379641	A	G	A379641G	DOCK8	NM_203447.3(DOCK8):c.2441-130A>G	noncoding	Benign
9	379643	C	T	C379643T	DOCK8	NM_203447.3(DOCK8):c.2441-128C>T	noncoding	Benign
9	382294	T	C	T382294C	DOCK8	NM_203447.3(DOCK8):c.2606-219T>C	noncoding	Benign
9	382390	T	C	T382390C	DOCK8	NM_203447.3(DOCK8):c.2606-123T>C	noncoding	Benign
9	382410	C	G	C382410G	DOCK8	NM_203447.3(DOCK8):c.2606-103C>G	noncoding	Benign
9	382512	G	A	G382512A	DOCK8	NM_203447.3(DOCK8):c.2606-1G>A	noncoding	Pathogenic
9	382553	G	A	G382553A	DOCK8	NM_203447.3(DOCK8):c.2646G>A:p.Thr882=	coding	Benign
9	382646	C	T	C382646T	DOCK8	NM_203447.3(DOCK8):c.2739C>T:p.Ser913=	coding	Benign
9	382705	G	A	G382705A	DOCK8	NM_203447.3(DOCK8):c.2778+20G>A	noncoding	Benign
9	386094	T	G	T386094G	DOCK8	NM_203447.3(DOCK8):c.2779-237T>G	noncoding	Benign
9	386414	A	T	A386414T	DOCK8	NM_203447.4(DOCK8):c.2862A>T:p.Pro954=	coding	Benign
9	386556	C	T	C386556T	DOCK8	NM_203447.3(DOCK8):c.2874+130C>T	noncoding	Benign
9	386559	A	C	A386559C	DOCK8	NM_203447.3(DOCK8):c.2874+133A>C	noncoding	Benign
9	386679	C	T	C386679T	DOCK8	NM_203447.3(DOCK8):c.2874+253C>T	noncoding	Benign
9	390228	C	T	C390228T	DOCK8	NM_203447.3(DOCK8):c.2875-243C>T	noncoding	Benign
9	390239	G	A	G390239A	DOCK8	NM_203447.3(DOCK8):c.2875-232G>A	noncoding	Benign
9	390512	C	T	C390512T	DOCK8	NM_203447.4(DOCK8):c.2916C>T:p.Thr972=	coding	Benign
9	390636	A	G	A390636G	DOCK8	NM_203447.3(DOCK8):c.2970+70A>G	noncoding	Benign
9	390753	A	G	A390753G	DOCK8	NM_203447.3(DOCK8):c.2970+187A>G	noncoding	Benign
9	396712	T	A	T396712A	DOCK8	NM_203447.3(DOCK8):c.2971-73T>A	noncoding	Benign
9	396749	T	G	T396749G	DOCK8	NM_203447.3(DOCK8):c.2971-36T>G	noncoding	Benign
9	396750	C	A	C396750A	DOCK8	NM_203447.3(DOCK8):c.2971-35C>A	noncoding	Benign
9	396771	A	G	A396771G	DOCK8	NM_203447.3(DOCK8):c.2971-14A>G	noncoding	Benign
9	396784	G	A	G396784A	DOCK8	NM_203447.3(DOCK8):c.2971-1G>A	noncoding	Pathogenic
9	396835	T	C	T396835C	DOCK8	NM_203447.4(DOCK8):c.3021T>C:p.Phe1007=	coding	Benign
9	397050	A	T	A397050T	DOCK8	NM_203447.3(DOCK8):c.3120+116A>T	noncoding	Benign
9	398865	A	G	A398865G	DOCK8	NM_203447.3(DOCK8):c.3121-281A>G	noncoding	Benign
9	399233	A	G	A399233G	DOCK8	NM_203447.4(DOCK8):c.3208A>G:p.Asn1070Asp	coding	Benign
9	399255	G	A	G399255A	DOCK8	NM_203447.4(DOCK8):c.3230G>A:p.Ser1077Asn	coding	Benign
9	399267	T	C	T399267C	DOCK8	NM_203447.3(DOCK8):c.3234+8T>C	noncoding	Benign
9	399274	C	A	C399274A	DOCK8	NM_203447.3(DOCK8):c.3234+15C>A	noncoding	Benign
9	399275	A	C	A399275C	DOCK8	NM_203447.3(DOCK8):c.3234+16A>C	noncoding	Benign
9	406643	A	G	A406643G	DOCK8	NM_203447.3(DOCK8):c.3391-287A>G	noncoding	Benign
9	406980	C	T	C406980T	DOCK8	NM_203447.3(DOCK8):c.3441C>T:p.Phe1147=	coding	Benign
9	407248	C	G	C407248G	DOCK8	NM_203447.3(DOCK8):c.3530+179C>G	noncoding	Benign
9	414816	A	G	A414816G	DOCK8	NM_203447.3(DOCK8):c.3565A>G:p.Ile1189Val	coding	Benign
9	414824	C	T	C414824T	DOCK8	NM_203447.4(DOCK8):c.3573C>T:p.Ser1191=	coding	Benign/Likely_benign
9	414857	T	C	T414857C	DOCK8	NM_203447.3(DOCK8):c.3606T>C:p.Cys1202=	coding	Benign/Likely_benign
9	415044	A	C	A415044C	DOCK8	NM_203447.3(DOCK8):c.3700+93A>C	noncoding	Benign
9	418003	T	C	T418003C	DOCK8	NM_203447.3(DOCK8):c.3701-65T>C	noncoding	Benign
9	418180	A	G	A418180G	DOCK8	NM_203447.3(DOCK8):c.3813A>G:p.Lys1271=	coding	Benign/Likely_benign
9	418210	A	G	A418210G	DOCK8	NM_203447.4(DOCK8):c.3840+3A>G	noncoding	Benign/Likely_benign
9	418276	T	G	T418276G	DOCK8	NM_203447.3(DOCK8):c.3840+69T>G	noncoding	Benign
9	418317	G	C	G418317C	DOCK8	NM_203447.3(DOCK8):c.3840+110G>C	noncoding	Benign
9	421032	C	G	C421032G	DOCK8	NM_203447.4(DOCK8):c.4107C>G:p.Leu1369=	coding	Benign
9	422052	C	T	C422052T	DOCK8	NM_203447.3(DOCK8):c.4158C>T:p.Asn1386=	coding	Benign/Likely_benign
9	422056	C	T	C422056T	DOCK8	NM_203447.3(DOCK8):c.4162C>T:p.Arg1388Ter	coding	Pathogenic
9	426740	G	C	G426740C	DOCK8	NM_203447.3(DOCK8):c.4242-145G>C	noncoding	Benign
9	428742	C	T	C428742T	DOCK8	NM_203447.3(DOCK8):c.4473+246C>T	noncoding	Benign
9	429577	A	G	A429577G	DOCK8	NM_203447.3(DOCK8):c.4474-125A>G	noncoding	Benign
9	429719	T	C	T429719C	DOCK8	NM_203447.4(DOCK8):c.4491T>C:p.Phe1497=	coding	Benign
9	429816	C	G	C429816G	DOCK8	NM_203447.3(DOCK8):c.4588C>G:p.Leu1530Val	coding	Benign
9	429940	T	G	T429940G	DOCK8	NM_203447.3(DOCK8):c.4626+86T>G	noncoding	Benign
9	431848	A	G	A431848G	DOCK8	NM_203447.3(DOCK8):c.4627-318A>G	noncoding	Benign
9	431860	T	C	T431860C	DOCK8	NM_203447.3(DOCK8):c.4627-306T>C	noncoding	Benign
9	432330	C	G	C432330G	DOCK8	NM_203447.4(DOCK8):c.4785+6C>G	noncoding	Benign
9	432396	A	T	A432396T	DOCK8	NM_203447.3(DOCK8):c.4785+72A>T	noncoding	Benign
9	432625	A	G	A432625G	DOCK8	NM_203447.3(DOCK8):c.4785+301A>G	noncoding	Benign
9	432628	G	T	G432628T	DOCK8	NM_203447.3(DOCK8):c.4785+304G>T	noncoding	Benign
9	433978	A	G	A433978G	DOCK8	NM_203447.4(DOCK8):c.4886+3A>G	noncoding	Benign
9	434897	C	T	C434897T	DOCK8	NM_203447.4(DOCK8):c.5001C>T:p.His1667=	coding	Benign
9	434906	G	A	G434906A	DOCK8	NM_203447.3(DOCK8):c.5010G>A:p.Ala1670=	coding	Benign
9	439297	C	A	C439297A	DOCK8	NM_203447.3(DOCK8):c.5132C>A:p.Ser1711Ter	coding	Pathogenic
9	439319	C	T	C439319T	DOCK8	NM_203447.3(DOCK8):c.5154C>T:p.Cys1718=	coding	Benign
9	439352	A	G	A439352G	DOCK8	NM_203447.3(DOCK8):c.5187A>G:p.Val1729=	coding	Benign
9	439376	G	A	G439376A	DOCK8	NM_203447.3(DOCK8):c.5211G>A:p.Glu1737=	coding	Benign
9	441423	C	T	C441423T	DOCK8	NM_203447.3(DOCK8):c.5355+6C>T	noncoding	Benign/Likely_benign
9	441952	G	A	G441952A	DOCK8	NM_203447.4(DOCK8):c.5433G>A:p.Glu1811=	coding	Benign
9	442272	G	C	G442272C	DOCK8	NM_203447.3(DOCK8):c.5490+263G>C	noncoding	Benign
9	443420	T	A	T443420A	DOCK8	NM_203447.3(DOCK8):c.5491-7T>A	noncoding	Benign/Likely_benign
9	446352	G	C	G446352C	DOCK8	NM_203447.3(DOCK8):c.5581-18G>C	noncoding	Benign
9	446570	C	T	C446570T	DOCK8	NM_203447.3(DOCK8):c.5781C>T:p.Tyr1927=	coding	Benign/Likely_benign
9	446891	T	C	T446891C	DOCK8	NM_203447.3(DOCK8):c.5817+285T>C	noncoding	Benign
9	446920	C	A	C446920A	DOCK8	NM_203447.3(DOCK8):c.5817+314C>A	noncoding	Benign
9	449770	C	T	C449770T	DOCK8	NM_203447.3(DOCK8):c.5818-14C>T	noncoding	Benign
9	449798	G	A	G449798A	DOCK8	NM_203447.4(DOCK8):c.5832G>A:p.Pro1944=	coding	Benign
9	449874	G	C	G449874C	DOCK8	NM_203447.4(DOCK8):c.5908G>C:p.Ala1970Pro	coding	Benign
9	449956	C	T	C449956T	DOCK8	NM_203447.3(DOCK8):c.5961+29C>T	noncoding	Benign
9	452149	G	C	G452149C	DOCK8	NM_203447.3(DOCK8):c.6068+32G>C	noncoding	Benign
9	463649	A	G	A463649G	DOCK8	NM_203447.3(DOCK8):c.6201A>G:p.Glu2067=	coding	Benign/Likely_benign
9	464331	T	C	T464331C	DOCK8	NM_203447.3(DOCK8):c.*112T>C	noncoding	Benign
9	464477	T	C	T464477C	DOCK8	NM_203447.3(DOCK8):c.*258T>C	noncoding	Benign
9	464920	G	A	G464920A	DOCK8	NM_203447.3(DOCK8):c.*701G>A	noncoding	Benign
9	464962	C	T	C464962T	DOCK8	NM_203447.4(DOCK8):c.*743C>T	noncoding	Benign
9	464976	T	G	T464976G	DOCK8	NM_203447.3(DOCK8):c.*757T>G	noncoding	Benign
9	465064	T	C	T465064C	DOCK8	NM_203447.3(DOCK8):c.*845T>C	noncoding	Benign
9	465086	C	T	C465086T	DOCK8	NM_203447.3(DOCK8):c.*867C>T	noncoding	Benign
9	710961	G	A	G710961A	KANK1	NM_015158.5(KANK1):c.195G>A:p.Lys65=	coding	Benign
9	710972	C	T	C710972T	KANK1	NM_015158.5(KANK1):c.206C>T:p.Pro69Leu	coding	Benign
9	711112	A	G	A711112G	KANK1	NM_015158.5(KANK1):c.346A>G:p.Thr116Ala	coding	Benign
9	711359	C	T	C711359T	KANK1	NM_015158.5(KANK1):c.593C>T:p.Ser198Phe	coding	Benign
9	711390	C	G	C711390G	KANK1	NM_015158.5(KANK1):c.624C>G:p.Ala208=	coding	Benign
9	711570	C	T	C711570T	KANK1	NM_015158.5(KANK1):c.804C>T:p.Ala268=	coding	Benign
9	712143	G	A	G712143A	KANK1	NM_015158.5(KANK1):c.1377G>A:p.Gln459=	coding	Benign
9	712757	C	T	C712757T	KANK1	NM_015158.5(KANK1):c.1991C>T:p.Ala664Val	coding	Benign
9	713412	T	G	T713412G	KANK1	NM_015158.5(KANK1):c.2646T>G:p.Thr882=	coding	Benign
9	730077	T	G	T730077G	KANK1	NM_015158.5(KANK1):c.2725T>G:p.Cys909Gly	coding	Benign
9	734839	A	C	A734839C	KANK1	NM_015158.5(KANK1):c.3333+4A>C	noncoding	Benign
9	738323	C	T	C738323T	KANK1	NM_015158.5(KANK1):c.3372C>T:p.Arg1124=	coding	Benign
9	738428	C	T	C738428T	KANK1	NM_015158.5(KANK1):c.3477C>T:p.Asp1159=	coding	Benign
9	738509	G	A	G738509A	KANK1	NM_015158.5(KANK1):c.3553+5G>A	noncoding	Benign
9	740847	G	A	G740847A	KANK1	NM_015158.5(KANK1):c.3609G>A:p.Ala1203=	coding	Benign
9	740885	T	C	T740885C	KANK1	NM_015158.5(KANK1):c.3647T>C:p.Ile1216Thr	coding	Benign
9	740938	A	G	A740938G	KANK1	NM_015158.5(KANK1):c.3696+4A>G	noncoding	Benign
9	742378	C	T	C742378T	KANK1	NM_015158.5(KANK1):c.3870C>T:p.Pro1290=	coding	Benign
9	744505	G	A	G744505A	KANK1	NM_015158.5(KANK1):c.3912G>A:p.Ala1304=	coding	Benign
9	744585	C	G	C744585G	KANK1	NM_001256876.2(KANK1):c.3992C>G:p.Ser1331Cys	coding	Benign
9	846952	G	C	G846952C	DMRT1	NM_021951.3(DMRT1):c.355-8G>C	noncoding	Benign
9	894147	G	C	G894147C	DMRT1	NM_021951.3(DMRT1):c.774G>C:p.Arg258=	coding	Benign
9	894156	C	G	C894156G	DMRT1	NM_021951.3(DMRT1):c.783C>G:p.Pro261=	coding	Benign
9	894156	C	T	C894156T	DMRT1	NM_021951.3(DMRT1):c.783C>T:p.Pro261=	coding	Benign
9	968054	A	G	A968054G	DMRT1	NM_021951.3(DMRT1):c.1037A>G:p.Lys346Arg	coding	Benign
9	977054	C	A	C977054A	DMRT3	NM_021240.4(DMRT3):c.53C>A:p.Pro18Gln	coding	Benign
9	977253	G	A	G977253A	DMRT3	NM_021240.4(DMRT3):c.252G>A:p.Glu84=	coding	Benign
9	977295	G	C	G977295C	DMRT3	NM_021240.4(DMRT3):c.294G>C:p.Pro98=	coding	Benign
9	990368	A	C	A990368C	DMRT3	NM_021240.4(DMRT3):c.782A>C:p.Asn261Thr	coding	Benign
9	990401	A	C	A990401C	DMRT3	NM_021240.4(DMRT3):c.815A>C:p.Lys272Thr	coding	Benign
9	990712	T	C	T990712C	DMRT3	NM_021240.4(DMRT3):c.1126T>C:p.Leu376=	coding	Benign
9	990973	T	C	T990973C	DMRT3	NM_021240.4(DMRT3):c.1387T>C:p.Ser463Pro	coding	Benign
9	1051910	C	G	C1051910G	DMRT2	NM_006557.7(DMRT2):c.297C>G:p.Thr99=	coding	Benign
9	1056398	C	G	C1056398G	DMRT2	NM_006557.7(DMRT2):c.*624C>G	coding	Benign
9	1056402	A	G	A1056402G	DMRT2	NM_006557.7(DMRT2):c.*628A>G	coding	Benign
9	1056732	G	A	G1056732A	DMRT2	NM_006557.7(DMRT2):c.*958G>A	coding	Benign
9	2029018	G	A	G2029018A	SMARCA2	NM_003070.5(SMARCA2):c.-5G>A	noncoding	Benign
9	2029119	C	T	C2029119T	SMARCA2	NM_003070.5(SMARCA2):c.97C>T:p.Pro33Ser	coding	Benign
9	2029196	G	A	G2029196A	SMARCA2	NM_003070.5(SMARCA2):c.174G>A:p.Pro58=	coding	Benign
9	2029199	G	A	G2029199A	SMARCA2	NM_003070.5(SMARCA2):c.177G>A:p.Thr59=	coding	Benign
9	2032957	C	T	C2032957T	SMARCA2	NM_003070.5(SMARCA2):c.231C>T:p.Ile77=	coding	Benign
9	2032972	C	T	C2032972T	SMARCA2	NM_003070.5(SMARCA2):c.246C>T:p.Asp82=	coding	Benign/Likely_benign
9	2039572	G	A	G2039572A	SMARCA2	NM_003070.5(SMARCA2):c.462G>A:p.Gly154=	coding	Benign
9	2039593	G	T	G2039593T	SMARCA2	NM_003070.5(SMARCA2):c.483G>T:p.Pro161=	coding	Benign/Likely_benign
9	2039627	C	T	C2039627T	SMARCA2	NM_003070.5(SMARCA2):c.517C>T:p.Pro173Ser	coding	Benign
9	2039707	C	T	C2039707T	SMARCA2	NM_003070.5(SMARCA2):c.597C>T:p.Pro199=	coding	Benign
9	2039827	G	A	G2039827A	SMARCA2	NM_003070.5(SMARCA2):c.717G>A:p.Pro239=	coding	Benign
9	2039844	A	T	A2039844T	SMARCA2	NM_003070.5(SMARCA2):c.734A>T:p.Gln245Leu	coding	Benign
9	2039860	A	G	A2039860G	SMARCA2	NM_003070.5(SMARCA2):c.750A>G:p.Gln250=	coding	Benign
9	2047222	C	T	C2047222T	SMARCA2	NM_003070.5(SMARCA2):c.791-7C>T	noncoding	Benign
9	2054672	C	G	C2054672G	SMARCA2	NM_003070.5(SMARCA2):c.1122C>G:p.Thr374=	coding	Benign
9	2058365	G	A	G2058365A	SMARCA2	NM_003070.5(SMARCA2):c.1422G>A:p.Gln474=	coding	Benign
9	2060879	C	G	C2060879G	SMARCA2	NM_003070.5(SMARCA2):c.1585C>G:p.Leu529Val	coding	Pathogenic
9	2060969	A	C	A2060969C	SMARCA2	NM_003070.5(SMARCA2):c.1675A>C:p.Arg559=	coding	Benign
9	2070462	G	A	G2070462A	SMARCA2	NM_003070.5(SMARCA2):c.1737G>A:p.Pro579=	coding	Benign
9	2073271	C	T	C2073271T	SMARCA2	NM_003070.5(SMARCA2):c.1806C>T:p.Thr602=	coding	Benign
9	2073292	A	G	A2073292G	SMARCA2	NM_003070.5(SMARCA2):c.1827A>G:p.Pro609=	coding	Benign
9	2073351	T	A	T2073351A	SMARCA2	NM_003070.5(SMARCA2):c.1877+9T>A	noncoding	Benign
9	2076255	G	A	G2076255A	SMARCA2	NM_003070.5(SMARCA2):c.1962G>A:p.Gln654=	coding	Benign
9	2081902	G	C	G2081902C	SMARCA2	NM_003070.5(SMARCA2):c.2255G>C:p.Gly752Ala	coding	Pathogenic
9	2083344	T	C	T2083344C	SMARCA2	NM_003070.5(SMARCA2):c.2349-3T>C	noncoding	Benign
9	2083359	C	A	C2083359A	SMARCA2	NM_003070.5(SMARCA2):c.2361C>A:p.Asn787Lys	coding	Pathogenic
9	2083381	T	C	T2083381C	SMARCA2	NM_003070.5(SMARCA2):c.2383T>C:p.Trp795Arg	coding	Pathogenic
9	2084156	C	T	C2084156T	SMARCA2	NM_003070.5(SMARCA2):c.2486C>T:p.Thr829Ile	coding	Pathogenic
9	2086856	G	A	G2086856A	SMARCA2	NM_003070.5(SMARCA2):c.2554G>A:p.Glu852Lys	coding	Pathogenic
9	2086863	A	T	A2086863T	SMARCA2	NM_003070.5(SMARCA2):c.2561A>T:p.His854Leu	coding	Pathogenic
9	2086944	G	T	G2086944T	SMARCA2	NM_003070.5(SMARCA2):c.2642G>T:p.Gly881Val	coding	Pathogenic
9	2086950	C	T	C2086950T	SMARCA2	NM_003070.5(SMARCA2):c.2648C>T:p.Pro883Leu	coding	Pathogenic
9	2087035	A	G	A2087035G	SMARCA2	NM_003070.5(SMARCA2):c.2733A>G:p.Gln911=	coding	Benign
9	2088493	C	G	C2088493G	SMARCA2	NM_003070.5(SMARCA2):c.2770-7C>G	noncoding	Benign
9	2088545	C	T	C2088545T	SMARCA2	NM_003070.5(SMARCA2):c.2815C>T:p.His939Tyr	coding	Pathogenic
9	2088583	G	C	G2088583C	SMARCA2	NM_003070.5(SMARCA2):c.2853G>C:p.Lys951Asn	coding	Pathogenic
9	2096680	C	T	C2096680T	SMARCA2	NM_003070.5(SMARCA2):c.2907C>T:p.Asp969=	coding	Benign
9	2096774	G	A	G2096774A	SMARCA2	NM_003070.5(SMARCA2):c.2991+10G>A	noncoding	Benign
9	2097377	G	A	G2097377A	SMARCA2	NM_003070.5(SMARCA2):c.2992-8G>A	noncoding	Benign
9	2104097	C	G	C2104097G	SMARCA2	NM_003070.5(SMARCA2):c.3220C>G:p.Gln1074Glu	coding	Pathogenic
9	2110274	C	G	C2110274G	SMARCA2	NM_003070.5(SMARCA2):c.3313C>G:p.Arg1105Gly	coding	Pathogenic
9	2110275	G	A	G2110275A	SMARCA2	NM_003070.5(SMARCA2):c.3314G>A:p.Arg1105His	coding	Pathogenic
9	2110356	G	A	G2110356A	SMARCA2	NM_003070.5(SMARCA2):c.3395G>A:p.Gly1132Asp	coding	Pathogenic
9	2110399	C	T	C2110399T	SMARCA2	NM_003070.5(SMARCA2):c.3438C>T:p.Ser1146=	coding	Benign/Likely_benign
9	2110400	G	A	G2110400A	SMARCA2	NM_003070.5(SMARCA2):c.3439G>A:p.Asp1147Asn	coding	Pathogenic
9	2110407	A	G	A2110407G	SMARCA2	NM_003070.5(SMARCA2):c.3446A>G:p.Asn1149Ser	coding	Pathogenic
9	2115829	A	C	A2115829C	SMARCA2	NM_003070.5(SMARCA2):c.3464A>C:p.Gln1155Pro	coding	Pathogenic
9	2115838	A	T	A2115838T	SMARCA2	NM_003070.5(SMARCA2):c.3473A>T:p.Asp1158Val	coding	Pathogenic
9	2115840	C	G	C2115840G	SMARCA2	NM_003070.5(SMARCA2):c.3475C>G:p.Arg1159Gly	coding	Pathogenic
9	2115841	G	A	G2115841A	SMARCA2	NM_003070.5(SMARCA2):c.3476G>A:p.Arg1159Gln	coding	Pathogenic
9	2115841	G	T	G2115841T	SMARCA2	NM_003070.5(SMARCA2):c.3476G>T:p.Arg1159Leu	coding	Pathogenic
9	2115849	C	T	C2115849T	SMARCA2	NM_003070.5(SMARCA2):c.3484C>T:p.Arg1162Cys	coding	Pathogenic
9	2115850	G	A	G2115850A	SMARCA2	NM_003070.5(SMARCA2):c.3485G>A:p.Arg1162His	coding	Pathogenic
9	2115958	T	G	T2115958G	SMARCA2	NM_003070.5(SMARCA2):c.3593T>G:p.Val1198Gly	coding	Pathogenic
9	2115967	C	T	C2115967T	SMARCA2	NM_003070.5(SMARCA2):c.3602C>T:p.Ala1201Val	coding	Pathogenic
9	2115969	G	T	G2115969T	SMARCA2	NM_003070.5(SMARCA2):c.3604G>T:p.Gly1202Cys	coding	Pathogenic
9	2116002	C	T	C2116002T	SMARCA2	NM_003070.5(SMARCA2):c.3637C>T:p.Arg1213Trp	coding	Pathogenic
9	2116015	T	C	T2116015C	SMARCA2	NM_003070.5(SMARCA2):c.3650T>C:p.Leu1217Pro	coding	Pathogenic
9	2116037	G	A	G2116037A	SMARCA2	NM_003070.5(SMARCA2):c.3672G>A:p.Glu1224=	coding	Benign
9	2119452	C	A	C2119452A	SMARCA2	NM_003070.5(SMARCA2):c.3685-6C>A	noncoding	Benign
9	2123799	C	T	C2123799T	SMARCA2	NM_003070.5(SMARCA2):c.3843C>T:p.Pro1281=	coding	Benign
9	2123895	C	T	C2123895T	SMARCA2	NM_003070.5(SMARCA2):c.3939C>T:p.Asp1313=	coding	Benign
9	2161733	T	G	T2161733G	SMARCA2	NM_003070.5(SMARCA2):c.4029T>G:p.Leu1343=	coding	Benign/Likely_benign
9	2170426	G	A	G2170426A	SMARCA2	NM_003070.5(SMARCA2):c.4207G>A:p.Val1403Met	coding	Benign/Likely_benign
9	2170466	G	C	G2170466C	SMARCA2	NM_003070.5(SMARCA2):c.4247G>C:p.Gly1416Ala	coding	Benign
9	2170512	G	C	G2170512C	SMARCA2	NM_003070.5(SMARCA2):c.4253+40G>C	noncoding	Benign
9	2181574	A	C	A2181574C	SMARCA2	NM_003070.5(SMARCA2):c.4257A>C:p.Ser1419=	coding	Benign/Likely_benign
9	2182221	G	A	G2182221A	SMARCA2	NM_003070.5(SMARCA2):c.4440G>A:p.Thr1480=	coding	Benign/Likely_benign
9	2186113	C	T	C2186113T	SMARCA2	NM_003070.5(SMARCA2):c.4479C>T:p.Ile1493=	coding	Benign
9	2186150	A	T	A2186150T	SMARCA2	NM_003070.5(SMARCA2):c.4516A>T:p.Ile1506Phe	coding	Benign
9	2186218	A	G	A2186218G	SMARCA2	NM_003070.5(SMARCA2):c.4584A>G:p.Ser1528=	coding	Benign
9	2186224	C	T	C2186224T	SMARCA2	NM_003070.5(SMARCA2):c.4590C>T:p.Ser1530=	coding	Benign
9	2191259	G	C	G2191259C	SMARCA2	NM_003070.5(SMARCA2):c.4595-7G>C	noncoding	Benign
9	2191309	C	G	C2191309G	SMARCA2	NM_003070.5(SMARCA2):c.4638C>G:p.Asp1546Glu	coding	Benign
9	2191317	G	A	G2191317A	SMARCA2	NM_003070.5(SMARCA2):c.4646G>A:p.Arg1549Gln	coding	Benign
9	2191350	G	A	G2191350A	SMARCA2	NM_003070.5(SMARCA2):c.4679G>A:p.Arg1560Gln	coding	Benign
9	2191370	G	C	G2191370C	SMARCA2	NM_003070.5(SMARCA2):c.4699G>C:p.Val1567Leu	coding	Benign/Likely_benign
9	2191388	G	A	G2191388A	SMARCA2	NM_003070.5(SMARCA2):c.4717G>A:p.Asp1573Asn	coding	Benign/Likely_benign
9	2191407	G	A	G2191407A	SMARCA2	NM_003070.5(SMARCA2):c.4736G>A:p.Arg1579His	coding	Benign
9	2191421	G	A	G2191421A	SMARCA2	NM_003070.5(SMARCA2):c.4737+13G>A	noncoding	Benign
9	2192727	G	A	G2192727A	SMARCA2	NM_003070.5(SMARCA2):c.4761G>A:p.Thr1587=	coding	Benign/Likely_benign
9	2192877	C	T	C2192877T	SMARCA2	NM_003070.5(SMARCA2):c.*138C>T	noncoding	Benign
9	2192920	C	T	C2192920T	SMARCA2	NM_003070.5(SMARCA2):c.*181C>T	noncoding	Benign
9	2193063	G	C	G2193063C	SMARCA2	NM_003070.5(SMARCA2):c.*324G>C	noncoding	Benign
9	2193170	G	A	G2193170A	SMARCA2	NM_003070.5(SMARCA2):c.*431G>A	noncoding	Benign
9	2193359	T	C	T2193359C	SMARCA2	NM_003070.5(SMARCA2):c.*620T>C	noncoding	Benign
9	2193437	T	C	T2193437C	SMARCA2	NM_003070.5(SMARCA2):c.*698T>C	noncoding	Benign
9	2193455	A	G	A2193455G	SMARCA2	NM_003070.5(SMARCA2):c.*716A>G	noncoding	Benign
9	2193465	T	C	T2193465C	SMARCA2	NM_003070.5(SMARCA2):c.*726T>C	noncoding	Benign
9	2621482	C	G	C2621482G	VLDLR	NC_000009.12:g.2621482C>G	noncoding	Benign
9	2622121	A	G	A2622121G	VLDLR	NM_003383.5(VLDLR):c.-69A>G	noncoding	Benign
9	2622134	C	T	C2622134T	VLDLR	NM_003383.5(VLDLR):c.-56C>T	noncoding	Benign
9	2622213	G	A	G2622213A	VLDLR	NM_003383.5(VLDLR):c.24G>A:p.Ala8=	coding	Benign/Likely_benign
9	2622264	C	T	C2622264T	VLDLR	NM_003383.5(VLDLR):c.75C>T:p.Thr25=	coding	Benign/Likely_benign
9	2622278	G	A	G2622278A	VLDLR	NM_003383.5(VLDLR):c.82+7G>A	coding	Benign
9	2622547	C	T	C2622547T	VLDLR	NM_003383.5(VLDLR):c.82+276C>T	noncoding	Benign
9	2622554	T	C	T2622554C	VLDLR	NM_003383.5(VLDLR):c.82+283T>C	noncoding	Benign
9	2635116	G	C	G2635116C	VLDLR	NM_003383.5(VLDLR):c.83-337G>C	noncoding	Benign
9	2635452	G	A	G2635452A	VLDLR	NM_003383.5(VLDLR):c.83-1G>A	noncoding	Pathogenic
9	2635545	G	A	G2635545A	VLDLR	NM_003383.5(VLDLR):c.175G>A:p.Val59Ile	coding	Benign/Likely_benign
9	2641107	T	A	T2641107A	VLDLR	NM_003383.5(VLDLR):c.326-270T>A	noncoding	Benign
9	2643175	G	C	G2643175C	VLDLR	NM_003383.5(VLDLR):c.464G>C:p.Ser155Thr	coding	Benign/Likely_benign
9	2643179	C	T	C2643179T	VLDLR	NM_003383.5(VLDLR):c.468C>T:p.Pro156=	coding	Benign/Likely_benign
9	2643449	C	T	C2643449T	VLDLR	NM_003383.5(VLDLR):c.738C>T:p.Cys246=	coding	Benign/Likely_benign
9	2643480	C	T	C2643480T	VLDLR	NM_003383.5(VLDLR):c.769C>T:p.Arg257Ter	coding	Pathogenic
9	2643832	T	C	T2643832C	VLDLR	NM_003383.5(VLDLR):c.944-5T>C	noncoding	Benign/Likely_benign
9	2643847	C	T	C2643847T	VLDLR	NM_003383.5(VLDLR):c.954C>T:p.Cys318=	coding	Benign/Likely_benign
9	2644008	C	A	C2644008A	VLDLR	NM_003383.5(VLDLR):c.1066+49C>A	noncoding	Benign
9	2644543	G	A	G2644543A	VLDLR	NM_003383.5(VLDLR):c.1067-191G>A	noncoding	Benign
9	2644741	C	T	C2644741T	VLDLR	NM_003383.5(VLDLR):c.1074C>T:p.Asn358=	coding	Benign
9	2644829	C	T	C2644829T	VLDLR	NM_003383.5(VLDLR):c.1162C>T:p.Leu388=	coding	Benign/Likely_benign
9	2644874	T	C	T2644874C	VLDLR	NM_003383.5(VLDLR):c.1186+21T>C	noncoding	Benign
9	2644954	C	T	C2644954T	VLDLR	NM_003383.5(VLDLR):c.1187-3C>T	noncoding	Benign/Likely_benign
9	2645109	G	A	G2645109A	VLDLR	NM_003383.5(VLDLR):c.1312+27G>A	noncoding	Benign
9	2645201	C	G	C2645201G	VLDLR	NM_003383.5(VLDLR):c.1312+119C>G	noncoding	Benign
9	2645473	A	G	A2645473G	VLDLR	NM_003383.5(VLDLR):c.1313-101A>G	noncoding	Benign
9	2645603	C	T	C2645603T	VLDLR	NM_003383.5(VLDLR):c.1342C>T:p.Arg448Ter	coding	Pathogenic
9	2645719	C	T	C2645719T	VLDLR	NM_003383.5(VLDLR):c.1458C>T:p.Ala486=	coding	Benign/Likely_benign
9	2645773	T	G	T2645773G	VLDLR	NM_003383.5(VLDLR):c.1484+28T>G	noncoding	Benign
9	2646435	G	A	G2646435A	VLDLR	NM_003383.5(VLDLR):c.1586G>A:p.Trp529Ter	coding	Pathogenic
9	2647760	A	G	A2647760G	VLDLR	NM_003383.5(VLDLR):c.1822+168A>G	noncoding	Benign
9	2648773	A	G	A2648773G	VLDLR	NM_003383.5(VLDLR):c.2067A>G:p.Gln689=	coding	Benign/Likely_benign
9	2650264	T	G	T2650264G	VLDLR	NM_003383.5(VLDLR):c.2105-106T>G	noncoding	Benign
9	2650382	G	T	G2650382T	VLDLR	NM_003383.5(VLDLR):c.2117G>T:p.Cys706Phe	coding	Pathogenic
9	2650781	A	C	A2650781C	VLDLR	NM_003383.5(VLDLR):c.2251+265A>C	noncoding	Benign
9	2651340	A	G	A2651340G	VLDLR	NM_003383.5(VLDLR):c.2252-75A>G	noncoding	Benign
9	2651348	T	C	T2651348C	VLDLR	NM_003383.5(VLDLR):c.2252-67T>C	noncoding	Benign
9	2651385	T	C	T2651385C	VLDLR	NM_003383.5(VLDLR):c.2252-30T>C	noncoding	Benign
9	2651714	T	G	T2651714G	VLDLR	NM_003383.5(VLDLR):c.2336-160T>G	noncoding	Benign
9	2651809	T	C	T2651809C	VLDLR	NM_003383.5(VLDLR):c.2336-65T>C	noncoding	Benign
9	2651962	G	T	G2651962T	VLDLR	NM_003383.5(VLDLR):c.2416+8G>T	noncoding	Benign
9	2652589	C	T	C2652589T	VLDLR	NM_003383.5(VLDLR):c.2417-191C>T	noncoding	Benign
9	2654048	G	A	G2654048A	VLDLR	NM_003383.5(VLDLR):c.*180G>A	noncoding	Benign
9	2654419	T	C	T2654419C	VLDLR	NM_003383.5(VLDLR):c.*551T>C	noncoding	Benign/Likely_benign
9	2717676	T	G	T2717676G	KCNV2	NM_133497.4(KCNV2):c.-64T>G	noncoding	Benign
9	2717698	C	G	C2717698G	KCNV2	NM_133497.4(KCNV2):c.-42C>G	noncoding	Benign
9	2717797	G	A	G2717797A	KCNV2	NM_133497.4(KCNV2):c.58G>A:p.Glu20Lys	coding	Benign/Likely_benign
9	2717883	G	A	G2717883A	KCNV2	NM_133497.4(KCNV2):c.144G>A:p.Glu48=	coding	Benign
9	2717922	C	G	C2717922G	KCNV2	NM_133497.4(KCNV2):c.183C>G:p.Gly61=	coding	Benign
9	2717965	C	T	C2717965T	KCNV2	NM_133497.4(KCNV2):c.226C>T:p.Gln76Ter	coding	Pathogenic
9	2718030	C	T	C2718030T	KCNV2	NM_133497.4(KCNV2):c.291C>T:p.Ser97=	coding	Benign/Likely_benign
9	2718051	T	C	T2718051C	KCNV2	NM_133497.4(KCNV2):c.312T>C:p.Gly104=	coding	Benign
9	2718078	C	A	C2718078A	KCNV2	NM_133497.4(KCNV2):c.339C>A:p.Cys113Ter	coding	Pathogenic
9	2718156	C	A	C2718156A	KCNV2	NM_133497.4(KCNV2):c.417C>A:p.Cys139Ter	coding	Pathogenic
9	2718166	G	T	G2718166T	KCNV2	NM_133497.4(KCNV2):c.427G>T:p.Glu143Ter	coding	Pathogenic
9	2718171	G	A	G2718171A	KCNV2	NM_133497.4(KCNV2):c.432G>A:p.Glu144=	coding	Benign
9	2718181	G	T	G2718181T	KCNV2	NM_133497.4(KCNV2):c.442G>T:p.Glu148Ter	coding	Pathogenic
9	2718230	T	C	T2718230C	KCNV2	NM_133497.4(KCNV2):c.491T>C:p.Phe164Ser	coding	Pathogenic
9	2718268	T	C	T2718268C	KCNV2	NM_133497.4(KCNV2):c.529T>C:p.Cys177Arg	coding	Pathogenic
9	2718270	T	A	T2718270A	KCNV2	NM_133497.4(KCNV2):c.531T>A:p.Cys177Ter	coding	Pathogenic
9	2718351	G	A	G2718351A	KCNV2	NM_133497.4(KCNV2):c.612G>A:p.Glu204=	coding	Benign/Likely_benign
9	2718384	G	C	G2718384C	KCNV2	NM_133497.4(KCNV2):c.645G>C:p.Lys215Asn	coding	Benign/Likely_benign
9	2718393	C	T	C2718393T	KCNV2	NM_133497.4(KCNV2):c.654C>T:p.His218=	coding	Benign
9	2718415	G	A	G2718415A	KCNV2	NM_133497.4(KCNV2):c.676G>A:p.Val226Ile	coding	Benign
9	2718498	A	G	A2718498G	KCNV2	NM_133497.4(KCNV2):c.759A>G:p.Pro253=	coding	Benign
9	2718506	C	G	C2718506G	KCNV2	NM_133497.4(KCNV2):c.767C>G:p.Ser256Trp	coding	Pathogenic
9	2718517	A	T	A2718517T	KCNV2	NM_133497.4(KCNV2):c.778A>T:p.Lys260Ter	coding	Pathogenic
9	2718521	C	A	C2718521A	KCNV2	NM_133497.4(KCNV2):c.782C>A:p.Ala261Asp	coding	Pathogenic
9	2718534	C	G	C2718534G	KCNV2	NM_133497.4(KCNV2):c.795C>G:p.Ala265=	coding	Benign
9	2718588	G	A	G2718588A	KCNV2	NM_133497.4(KCNV2):c.849G>A:p.Glu283=	coding	Benign
9	2718593	T	G	T2718593G	KCNV2	NM_133497.4(KCNV2):c.854T>G:p.Met285Arg	coding	Benign
9	2718605	C	A	C2718605A	KCNV2	NM_133497.4(KCNV2):c.866C>A:p.Ser289Ter	coding	Pathogenic
9	2718654	G	A	G2718654A	KCNV2	NM_133497.4(KCNV2):c.915G>A:p.Val305=	coding	Benign
9	2718655	G	T	G2718655T	KCNV2	NM_133497.4(KCNV2):c.916G>T:p.Glu306Ter	coding	Pathogenic
9	2718659	T	G	T2718659G	KCNV2	NM_133497.4(KCNV2):c.920T>G:p.Met307Arg	coding	Benign/Likely_benign
9	2718696	G	A	G2718696A	KCNV2	NM_133497.4(KCNV2):c.957G>A:p.Leu319=	coding	Benign/Likely_benign
9	2718717	C	T	C2718717T	KCNV2	NM_133497.4(KCNV2):c.978C>T:p.Asp326=	coding	Benign
9	2718822	A	G	A2718822G	KCNV2	NM_133497.4(KCNV2):c.1083A>G:p.Gln361=	coding	Benign
9	2718925	G	T	G2718925T	KCNV2	NM_133497.4(KCNV2):c.1186G>T:p.Gly396Ter	coding	Pathogenic
9	2718950	T	C	T2718950C	KCNV2	NM_133497.4(KCNV2):c.1211T>C:p.Leu404Pro	coding	Pathogenic
9	2729465	G	A	G2729465A	KCNV2	NM_133497.4(KCNV2):c.1376G>A:p.Gly459Asp	coding	Pathogenic
9	2729470	G	A	G2729470A	KCNV2	NM_133497.4(KCNV2):c.1381G>A:p.Gly461Arg	coding	Pathogenic
9	2729475	C	T	C2729475T	KCNV2	NM_133497.4(KCNV2):c.1386C>T:p.Asp462=	coding	Benign
9	2729686	C	G	C2729686G	KCNV2	NM_133497.4(KCNV2):c.1597C>G:p.Leu533Val	coding	Benign
9	2729705	T	C	T2729705C	KCNV2	NM_133497.4(KCNV2):c.1616T>C:p.Leu539Pro	coding	Benign
9	2729733	T	C	T2729733C	KCNV2	NM_133497.4(KCNV2):c.*6T>C	noncoding	Benign
9	2729792	T	A	T2729792A	KCNV2	NM_133497.4(KCNV2):c.*65T>A	noncoding	Benign
9	2729911	C	T	C2729911T	KCNV2	NM_133497.4(KCNV2):c.*184C>T	noncoding	Benign
9	2811522	T	A	T2811522A	PUM3	NM_014878.5(PUM3):c.1474A>T:p.Ser492Cys	coding	Benign
9	2820046	G	C	G2820046C	PUM3	NM_014878.5(PUM3):c.1241C>G:p.Thr414Ser	coding	Benign
9	2829836	T	C	T2829836C	PUM3	NM_014878.5(PUM3):c.790A>G:p.Ile264Val	coding	Benign
9	3228838	G	A	G3228838A	RFX3	NM_134428.3(RFX3):c.2011+9C>T	noncoding	Benign
9	3257053	A	G	A3257053G	RFX3	NM_134428.3(RFX3):c.1752T>C:p.Tyr584=	coding	Benign
9	3257122	C	T	C3257122T	RFX3	NM_134428.3(RFX3):c.1683G>A:p.Gln561=	coding	Benign
9	3271018	G	A	G3271018A	RFX3	NM_134428.3(RFX3):c.1187C>T:p.Thr396Ile	coding	Benign
9	3824580	T	A	T3824580A	GLIS3	NM_001042413.2(GLIS3):c.*3692A>T	noncoding	Benign
9	3824863	C	T	C3824863T	GLIS3	NM_001042413.2(GLIS3):c.*3409G>A	noncoding	Benign
9	3824936	T	A	T3824936A	GLIS3	NM_001042413.2(GLIS3):c.*3336A>T	noncoding	Benign
9	3825015	T	C	T3825015C	GLIS3	NM_001042413.2(GLIS3):c.*3257A>G	noncoding	Benign
9	3825054	T	G	T3825054G	GLIS3	NM_001042413.2(GLIS3):c.*3218A>C	noncoding	Benign
9	3825260	C	G	C3825260G	GLIS3	NM_001042413.2(GLIS3):c.*3012G>C	noncoding	Benign
9	3825328	A	G	A3825328G	GLIS3	NM_001042413.2(GLIS3):c.*2944T>C	noncoding	Benign
9	3825381	C	G	C3825381G	GLIS3	NM_001042413.2(GLIS3):c.*2891G>C	noncoding	Benign
9	3825416	T	G	T3825416G	GLIS3	NM_001042413.2(GLIS3):c.*2856A>C	noncoding	Benign
9	3825459	G	A	G3825459A	GLIS3	NM_001042413.2(GLIS3):c.*2813C>T	noncoding	Benign
9	3825466	C	T	C3825466T	GLIS3	NM_001042413.2(GLIS3):c.*2806G>A	noncoding	Benign
9	3825540	C	T	C3825540T	GLIS3	NM_001042413.2(GLIS3):c.*2732G>A	noncoding	Benign
9	3825812	G	A	G3825812A	GLIS3	NM_001042413.2(GLIS3):c.*2460C>T	noncoding	Benign
9	3825946	G	A	G3825946A	GLIS3	NM_001042413.2(GLIS3):c.*2326C>T	noncoding	Benign
9	3826081	C	T	C3826081T	GLIS3	NM_001042413.2(GLIS3):c.*2191G>A	noncoding	Benign
9	3826440	T	C	T3826440C	GLIS3	NM_001042413.2(GLIS3):c.*1832A>G	noncoding	Benign
9	3826445	A	C	A3826445C	GLIS3	NM_001042413.2(GLIS3):c.*1827T>G	noncoding	Benign
9	3826512	A	C	A3826512C	GLIS3	NM_001042413.2(GLIS3):c.*1760T>G	noncoding	Benign
9	3826670	A	C	A3826670C	GLIS3	NM_001042413.2(GLIS3):c.*1602T>G	noncoding	Benign
9	3826710	T	G	T3826710G	GLIS3	NM_001042413.2(GLIS3):c.*1562A>C	noncoding	Benign
9	3827040	A	C	A3827040C	GLIS3	NM_001042413.2(GLIS3):c.*1232T>G	noncoding	Benign
9	3827075	C	G	C3827075G	GLIS3	NM_001042413.2(GLIS3):c.*1197G>C	noncoding	Benign
9	3827120	A	C	A3827120C	GLIS3	NM_001042413.2(GLIS3):c.*1152T>G	noncoding	Benign
9	3827560	G	A	G3827560A	GLIS3	NM_001042413.2(GLIS3):c.*712C>T	noncoding	Benign
9	3827561	G	C	G3827561C	GLIS3	NM_001042413.2(GLIS3):c.*711C>G	noncoding	Benign
9	3827824	C	T	C3827824T	GLIS3	NM_001042413.2(GLIS3):c.*448G>A	noncoding	Benign
9	3828342	G	A	G3828342A	GLIS3	NM_001042413.2(GLIS3):c.2723C>T:p.Ala908Val	coding	Benign
9	3828379	G	A	G3828379A	GLIS3	NM_001042413.2(GLIS3):c.2686C>T:p.Leu896Phe	coding	Benign
9	3856011	T	C	T3856011C	GLIS3	NM_001042413.2(GLIS3):c.2471A>G:p.His824Arg	coding	Benign
9	3856142	C	T	C3856142T	GLIS3	NM_001042413.2(GLIS3):c.2340G>A:p.Arg780=	coding	Benign
9	3932462	A	G	A3932462G	GLIS3	NM_001042413.2(GLIS3):c.1881T>C:p.Tyr627=	coding	Benign
9	3937133	C	A	C3937133A	GLIS3	NM_001042413.2(GLIS3):c.1767G>T:p.Arg589=	coding	Benign/Likely_benign
9	4117797	G	A	G4117797A	GLIS3	NM_001042413.2(GLIS3):c.1681C>T:p.His561Tyr	coding	Pathogenic
9	4117870	G	C	G4117870C	GLIS3	NM_001042413.2(GLIS3):c.1608C>G:p.Cys536Trp	coding	Pathogenic
9	4117942	G	T	G4117942T	GLIS3	NM_001042413.2(GLIS3):c.1536C>A:p.Asp512Glu	coding	Benign
9	4117963	G	A	G4117963A	GLIS3	NM_001042413.2(GLIS3):c.1515C>T:p.Ile505=	coding	Benign
9	4118111	G	T	G4118111T	GLIS3	NM_001042413.2(GLIS3):c.1367C>A:p.Pro456Gln	coding	Benign
9	4118151	G	A	G4118151A	GLIS3	NM_001042413.2(GLIS3):c.1327C>T:p.Leu443=	coding	Benign
9	4118160	T	C	T4118160C	GLIS3	NM_001042413.2(GLIS3):c.1318A>G:p.Thr440Ala	coding	Benign
9	4118208	A	G	A4118208G	GLIS3	NM_001042413.2(GLIS3):c.1270T>C:p.Ser424Pro	coding	Benign
9	4118218	G	A	G4118218A	GLIS3	NM_001042413.2(GLIS3):c.1260C>T:p.Pro420=	coding	Benign
9	4118262	C	A	C4118262A	GLIS3	NM_001042413.2(GLIS3):c.1216G>T:p.Gly406Cys	coding	Benign
9	4118278	G	C	G4118278C	GLIS3	NM_001042413.2(GLIS3):c.1200C>G:p.His400Gln	coding	Benign/Likely_benign
9	4118352	G	A	G4118352A	GLIS3	NM_001042413.2(GLIS3):c.1126C>T:p.Pro376Ser	coding	Benign
9	4118386	C	A	C4118386A	GLIS3	NM_001042413.2(GLIS3):c.1092G>T:p.Pro364=	coding	Benign/Likely_benign
9	4118388	G	A	G4118388A	GLIS3	NM_001042413.2(GLIS3):c.1090C>T:p.Pro364Ser	coding	Benign/Likely_benign
9	4118393	G	T	G4118393T	GLIS3	NM_001042413.2(GLIS3):c.1085C>A:p.Pro362Gln	coding	Benign/Likely_benign
9	4118524	G	A	G4118524A	GLIS3	NM_001042413.2(GLIS3):c.954C>T:p.Thr318=	coding	Benign/Likely_benign
9	4118540	C	G	C4118540G	GLIS3	NM_001042413.2(GLIS3):c.938G>C:p.Gly313Ala	coding	Benign
9	4118585	G	T	G4118585T	GLIS3	NM_001042413.2(GLIS3):c.893C>A:p.Ser298Tyr	coding	Benign/Likely_benign
9	4118734	T	C	T4118734C	GLIS3	NM_001042413.2(GLIS3):c.744A>G:p.Leu248=	coding	Benign
9	4286255	G	A	G4286255A	GLIS3	NM_001042413.2(GLIS3):c.171C>T:p.Asn57=	coding	Benign
9	4299453	C	T	C4299453T	GLIS3	NM_001042413.2(GLIS3):c.-131G>A	noncoding	Benign
9	4299592	G	T	G4299592T	GLIS3	NM_001042413.2(GLIS3):c.-270C>A	noncoding	Benign
9	4299846	G	A	G4299846A	GLIS3	NM_001042413.2(GLIS3):c.-524C>T	noncoding	Benign
9	4299958	G	A	G4299958A	GLIS3	NM_001042413.2(GLIS3):c.-636C>T	noncoding	Benign
9	4300003	G	A	G4300003A	GLIS3	NM_001042413.2(GLIS3):c.-681C>T	noncoding	Benign
9	4490760	G	C	G4490760C	SLC1A1	NM_004170.6(SLC1A1):c.81G>C:p.Ala27=	coding	Benign
9	4544624	T	A	T4544624A	SLC1A1	NM_004170.6(SLC1A1):c.149T>A:p.Phe50Tyr	coding	Benign
9	4544640	T	C	T4544640C	SLC1A1	NM_004170.6(SLC1A1):c.165T>C:p.Pro55=	coding	Benign
9	4544670	C	G	C4544670G	SLC1A1	NM_004170.6(SLC1A1):c.195C>G:p.Leu65=	coding	Benign
9	4544721	A	T	A4544721T	SLC1A1	NM_004170.6(SLC1A1):c.232+14A>T	noncoding	Benign
9	4561477	C	T	C4561477T	SLC1A1	NM_004170.6(SLC1A1):c.261C>T:p.Ser87=	coding	Benign
9	4564432	G	A	G4564432A	SLC1A1	NM_004170.6(SLC1A1):c.414G>A:p.Thr138=	coding	Benign
9	4566036	G	A	G4566036A	SLC1A1	NM_004170.6(SLC1A1):c.441-11G>A	noncoding	Benign
9	4567773	A	G	A4567773G	SLC1A1	NM_004170.6(SLC1A1):c.582+6A>G	noncoding	Benign
9	4572371	C	T	C4572371T	SLC1A1	NM_004170.6(SLC1A1):c.750C>T:p.Ile250=	coding	Benign
9	4574022	A	C	A4574022C	SLC1A1	NM_004170.6(SLC1A1):c.875+8A>C	noncoding	Benign
9	4576680	T	C	T4576680C	SLC1A1	NM_004170.6(SLC1A1):c.1110T>C:p.Thr370=	coding	Benign
9	4576774	G	A	G4576774A	SLC1A1	NM_004170.6(SLC1A1):c.1193+11G>A	noncoding	Benign
9	4585316	C	T	C4585316T	SLC1A1	NM_004170.6(SLC1A1):c.1333C>T:p.Arg445Trp	coding	Pathogenic
9	4585425	T	A	T4585425A	SLC1A1	NM_004170.6(SLC1A1):c.1442T>A:p.Ile481Asn	coding	Benign
9	4585498	T	C	T4585498C	SLC1A1	NM_004170.6(SLC1A1):c.1515T>C:p.Asn505=	coding	Benign
9	4585924	T	C	T4585924C	SLC1A1	NM_004170.6(SLC1A1):c.*366T>C	noncoding	Benign
9	4586808	G	C	G4586808C	SLC1A1	NM_004170.6(SLC1A1):c.*1250G>C	noncoding	Benign
9	4586919	T	C	T4586919C	SLC1A1	NM_004170.6(SLC1A1):c.*1361T>C	noncoding	Benign
9	4587146	A	G	A4587146G	SLC1A1	NM_004170.6(SLC1A1):c.*1588A>G	noncoding	Benign
9	4587161	A	G	A4587161G	SLC1A1	NM_004170.6(SLC1A1):c.*1603A>G	noncoding	Benign
9	4841222	C	T	C4841222T	RCL1	NM_005772.5(RCL1):c.585-10C>T	coding	Benign
9	4849515	T	C	T4849515C	RCL1	NM_005772.5(RCL1):c.936T>C:p.Val312=	coding	Benign
9	5044432	G	A	G5044432A	JAK2	NM_004972.3(JAK2):c.380G>A:p.Gly127Asp	coding	Benign
9	5050706	C	T	C5050706T	JAK2	NM_004972.4(JAK2):c.489C>T:p.His163=	coding	Benign
9	5050796	C	T	C5050796T	JAK2	NM_004972.4(JAK2):c.579C>T:p.Asn193=	coding	Benign
9	5065003	C	G	C5065003G	JAK2	NM_004972.3(JAK2):c.1177C>G:p.Leu393Val	coding	Benign
9	5066747	T	C	T5066747C	JAK2	NM_004972.4(JAK2):c.1284T>C:p.Ser428=	coding	Benign
9	5066786	C	T	C5066786T	JAK2	NM_004972.4(JAK2):c.1323C>T:p.Val441=	coding	Benign
9	5069153	T	G	T5069153G	JAK2	NM_004972.4(JAK2):c.1458T>G:p.Val486=	coding	Benign
9	5073742	G	C	G5073742C	JAK2	NM_004972.3(JAK2):c.1821G>C:p.Lys607Asn	coding	Pathogenic
9	5073770	G	A	G5073770A	JAK2	NM_004972.3(JAK2):c.1849G>A:p.Val617Ile	coding	Pathogenic
9	5073770	G	T	G5073770T	JAK2	NM_004972.3(JAK2):c.1849G>T:p.Val617Phe	coding	Pathogenic
9	5078360	A	G	A5078360G	JAK2;INSL6	NM_004972.3(JAK2):c.2047A>G:p.Arg683Gly	coding	Pathogenic/Likely_pathogenic
9	5078361	G	C	G5078361C	JAK2;INSL6	NM_004972.3(JAK2):c.2048G>C:p.Arg683Thr	coding	Pathogenic
9	5078362	A	C	A5078362C	JAK2;INSL6	NM_004972.3(JAK2):c.2049A>C:p.Arg683Ser	coding	Pathogenic
9	5078362	A	T	A5078362T	INSL6;JAK2	NM_004972.3(JAK2):c.2049A>T:p.Arg683Ser	coding	Pathogenic
9	5081780	G	A	G5081780A	JAK2	NM_004972.4(JAK2):c.2490G>A:p.Leu830=	coding	Benign
9	5089688	T	C	T5089688C	JAK2	NM_004972.3(JAK2):c.2586T>C:p.Ser862=	coding	Benign
9	5090783	G	A	G5090783A	JAK2	NM_004972.3(JAK2):c.2931G>A:p.Leu977=	coding	Benign
9	5090810	C	T	C5090810T	JAK2	NM_004972.3(JAK2):c.2958C>T:p.Asn986=	coding	Benign
9	5126343	G	A	G5126343A	JAK2	NM_004972.3(JAK2):c.3188G>A:p.Arg1063His	coding	Benign
9	5126443	T	A	T5126443A	JAK2	NM_004972.3(JAK2):c.3288T>A:p.Asp1096Glu	coding	Benign
9	5164151	T	C	T5164151C	INSL6	NM_007179.3(INSL6):c.404A>G:p.His135Arg	coding	Benign
9	5185381	G	C	G5185381C	INSL6	NM_007179.3(INSL6):c.222C>G:p.Ala74=	coding	Benign
9	5233664	A	G	A5233664G	INSL4	NM_002195.2(INSL4):c.207A>G:p.Ser69=	coding	Benign
9	5300268	T	C	T5300268C	RLN2	NM_134441.3(RLN2):c.388A>G:p.Lys130Glu	coding	Benign
9	5335590	T	G	T5335590G	RLN1	NM_006911.4(RLN1):c.219A>C:p.Val73=	coding	Benign
9	5457224	A	G	A5457224G	CD274	NM_014143.4(CD274):c.198A>G:p.Gln66=	coding	Benign
9	5457389	C	A	C5457389A	CD274	NM_014143.4(CD274):c.363C>A:p.Ala121=	coding	Benign
9	5742888	A	G	A5742888G	RIC1	NM_020829.4(RIC1):c.921A>G:p.Gly307=	coding	Benign
9	5754894	C	A	C5754894A	RIC1	NM_020829.4(RIC1):c.1656C>A:p.Val552=	coding	Benign
9	5772741	G	C	G5772741C	RIC1	NM_020829.4(RIC1):c.3794G>C:p.Arg1265Pro	coding	Pathogenic
9	5787553	C	T	C5787553T	ERMP1	NM_024896.3(ERMP1):c.2427G>A:p.Gly809=	coding	Benign
9	5805741	C	T	C5805741T	ERMP1	NM_024896.3(ERMP1):c.1593G>A:p.Ser531=	coding	Benign
9	5811155	A	C	A5811155C	ERMP1	NM_024896.3(ERMP1):c.1283T>G:p.Val428Gly	coding	Benign
9	5811226	C	T	C5811226T	ERMP1	NM_024896.3(ERMP1):c.1212G>A:p.Val404=	coding	Benign
9	5811257	T	C	T5811257C	ERMP1	NM_024896.3(ERMP1):c.1181A>G:p.Tyr394Cys	coding	Benign
9	5921340	C	T	C5921340T	KIAA2026	NM_001017969.3(KIAA2026):c.4656G>A:p.Pro1552=	coding	Benign
9	6250532	C	A	C6250532A	IL33	NM_001314044.2(IL33):c.150C>A:p.Gly50=	coding	Benign
9	6251195	G	C	G6251195C	IL33	NM_001314044.2(IL33):c.273G>C:p.Val91=	coding	Benign
9	6252979	G	T	G6252979T	IL33	NM_001314044.2(IL33):c.457G>T:p.Asp153Tyr	coding	Benign
9	6254544	C	G	C6254544G	IL33	NM_001314044.2(IL33):c.603C>G:p.His201Gln	coding	Benign
9	6256144	C	G	C6256144G	IL33	NM_001314044.2(IL33):c.789C>G:p.Ile263Met	coding	Benign
9	6532477	G	A	G6532477A	GLDC	NM_000170.2(GLDC):c.*540C>T	noncoding	Benign
9	6532544	G	A	G6532544A	GLDC	NM_000170.2(GLDC):c.*473C>T	noncoding	Benign
9	6532607	C	G	C6532607G	GLDC	NM_000170.2(GLDC):c.*410G>C	noncoding	Benign
9	6533010	C	G	C6533010G	GLDC	NM_000170.2(GLDC):c.*7G>C	noncoding	Benign
9	6533100	C	T	C6533100T	GLDC	NM_000170.2(GLDC):c.2980G>A:p.Gly994Arg	coding	Pathogenic/Likely_pathogenic
9	6533168	G	A	G6533168A	GLDC	NM_000170.3(GLDC):c.2920-8C>T	noncoding	Benign
9	6534705	T	C	T6534705C	GLDC	NM_000170.2(GLDC):c.2919+3A>G	noncoding	Benign/Likely_benign
9	6534707	C	G	C6534707G	GLDC	NM_000170.2(GLDC):c.2919+1G>C	noncoding	Pathogenic
9	6534707	C	T	C6534707T	GLDC	NM_000170.2(GLDC):c.2919+1G>A	noncoding	Pathogenic
9	6534748	C	T	C6534748T	GLDC	NM_000170.3(GLDC):c.2879G>A:p.Trp960Ter	coding	Pathogenic
9	6536062	A	G	A6536062G	GLDC	NM_000170.2(GLDC):c.2838+2T>C	noncoding	Pathogenic/Likely_pathogenic
9	6536063	C	T	C6536063T	GLDC	NM_000170.3(GLDC):c.2838+1G>A	noncoding	Pathogenic
9	6536147	A	T	A6536147T	GLDC	NM_000170.3(GLDC):c.2755T>A:p.Phe919Ile	coding	Pathogenic
9	6536154	C	T	C6536154T	GLDC	NM_000170.2(GLDC):c.2748G>A:p.Leu916=	coding	Benign/Likely_benign
9	6536188	A	C	A6536188C	GLDC	NM_000170.2(GLDC):c.2714T>G:p.Val905Gly	coding	Pathogenic
9	6540050	C	G	C6540050G	GLDC	NM_000170.2(GLDC):c.2665+1G>C	noncoding	Pathogenic/Likely_pathogenic
9	6540102	T	A	T6540102A	GLDC	NM_000170.2(GLDC):c.2614A>T:p.Lys872Ter	coding	Pathogenic/Likely_pathogenic
9	6540109	G	T	G6540109T	GLDC	NM_000170.2(GLDC):c.2607C>A:p.Pro869=	coding	Pathogenic
9	6540132	C	T	C6540132T	GLDC	NM_000170.2(GLDC):c.2584G>A:p.Glu862Lys	coding	Pathogenic/Likely_pathogenic
9	6550828	G	C	G6550828C	GLDC	NM_000170.2(GLDC):c.2544C>G:p.Tyr848Ter	coding	Pathogenic
9	6550841	A	C	A6550841C	GLDC	NM_000170.3(GLDC):c.2531T>G:p.Leu844Ter	coding	Pathogenic
9	6550845	G	A	G6550845A	GLDC	NM_000170.2(GLDC):c.2527C>T:p.Arg843Ter	coding	Pathogenic
9	6550882	C	A	C6550882A	GLDC	NM_000170.2(GLDC):c.2490G>T:p.Thr830=	coding	Benign/Likely_benign
9	6550883	G	A	G6550883A	GLDC	NM_000170.2(GLDC):c.2489C>T:p.Thr830Met	coding	Pathogenic/Likely_pathogenic
9	6553360	G	A	G6553360A	GLDC	NM_000170.2(GLDC):c.2457+8C>T	noncoding	Benign
9	6553370	T	C	T6553370C	GLDC	NM_000170.2(GLDC):c.2455A>G:p.Lys819Glu	coding	Pathogenic
9	6553420	G	A	G6553420A	GLDC	NM_000170.2(GLDC):c.2405C>T:p.Ala802Val	coding	Pathogenic
9	6553445	C	T	C6553445T	GLDC	NM_000170.2(GLDC):c.2380G>A:p.Ala794Thr	coding	Benign/Likely_benign
9	6553510	C	T	C6553510T	GLDC	NM_000170.2(GLDC):c.2316-1G>A	coding	Pathogenic
9	6554668	C	A	C6554668A	GLDC	NM_000170.3(GLDC):c.2315+1G>T	noncoding	Pathogenic
9	6554673	C	T	C6554673T	GLDC	NM_000170.2(GLDC):c.2311G>A:p.Gly771Arg	coding	Pathogenic/Likely_pathogenic
9	6554700	C	T	C6554700T	GLDC	NM_000170.2(GLDC):c.2284G>A:p.Gly762Arg	coding	Pathogenic/Likely_pathogenic
9	6554703	C	G	C6554703G	GLDC	NM_000170.2(GLDC):c.2281G>C:p.Gly761Arg	coding	Pathogenic
9	6554703	C	T	C6554703T	GLDC	NM_000170.2(GLDC):c.2281G>A:p.Gly761Arg	coding	Pathogenic/Likely_pathogenic
9	6554768	C	T	C6554768T	GLDC	NM_000170.2(GLDC):c.2216G>A:p.Arg739His	coding	Pathogenic/Likely_pathogenic
9	6554781	C	A	C6554781A	GLDC	NM_000170.2(GLDC):c.2203G>T:p.Val735Leu	coding	Benign/Likely_benign
9	6554783	T	C	T6554783C	GLDC	NM_000170.2(GLDC):c.2203-2A>G	noncoding	Pathogenic
9	6556178	A	T	A6556178T	GLDC	NM_000170.2(GLDC):c.2177T>A:p.Leu726Gln	coding	Pathogenic
9	6558558	C	T	C6558558T	GLDC	NM_000170.3(GLDC):c.2052+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	6558693	T	C	T6558693C	GLDC	NM_000170.2(GLDC):c.1927-9A>G	noncoding	Benign/Likely_benign
9	6565392	G	A	G6565392A	GLDC	NM_000170.2(GLDC):c.1888C>T:p.Arg630Ter	coding	Pathogenic
9	6587163	G	A	G6587163A	GLDC	NM_000170.3(GLDC):c.1828C>T:p.Gln610Ter	coding	Pathogenic
9	6587176	G	A	G6587176A	GLDC	NM_000170.2(GLDC):c.1815C>T:p.Leu605=	coding	Benign
9	6587205	G	A	G6587205A	GLDC	NM_000170.2(GLDC):c.1786C>T:p.Arg596Ter	coding	Pathogenic/Likely_pathogenic
9	6587226	G	A	G6587226A	GLDC	NM_000170.3(GLDC):c.1765C>T:p.Gln589Ter	coding	Pathogenic
9	6587268	C	A	C6587268A	GLDC	NM_000170.2(GLDC):c.1723G>T:p.Glu575Ter	coding	Pathogenic/Likely_pathogenic
9	6588393	C	T	C6588393T	GLDC	NM_000170.2(GLDC):c.1707+8G>A	noncoding	Benign/Likely_benign
9	6588417	C	A	C6588417A	GLDC	NM_000170.2(GLDC):c.1691G>T:p.Ser564Ile	coding	Pathogenic
9	6588629	T	C	T6588629C	GLDC	NM_000170.2(GLDC):c.1654A>G:p.Met552Val	coding	Pathogenic
9	6588631	C	A	C6588631A	GLDC	NM_000170.2(GLDC):c.1652G>T:p.Ser551Ile	coding	Pathogenic/Likely_pathogenic
9	6588707	G	A	G6588707A	GLDC	NM_000170.2(GLDC):c.1581-5C>T	noncoding	Benign/Likely_benign
9	6589193	A	C	A6589193C	GLDC	NM_000170.2(GLDC):c.1580+2T>G	noncoding	Pathogenic
9	6589195	C	G	C6589195G	GLDC	NM_000170.2(GLDC):c.1580G>C:p.Ser527Thr	coding	Pathogenic
9	6589230	C	G	C6589230G	GLDC	NM_000170.2(GLDC):c.1545G>C:p.Arg515Ser	coding	Pathogenic
9	6589230	C	T	C6589230T	GLDC	NM_000170.2(GLDC):c.1545G>A:p.Arg515=	coding	Benign/Likely_benign
9	6589267	T	G	T6589267G	GLDC	NM_000170.2(GLDC):c.1508A>C:p.Glu503Ala	coding	Benign
9	6592868	G	C	G6592868C	GLDC	NM_000170.2(GLDC):c.1384C>G:p.Leu462Val	coding	Benign
9	6592870	C	T	C6592870T	GLDC	NM_000170.2(GLDC):c.1382G>A:p.Arg461Gln	coding	Pathogenic/Likely_pathogenic
9	6592982	G	A	G6592982A	GLDC	NM_000170.2(GLDC):c.1270C>T:p.Arg424Ter	coding	Pathogenic/Likely_pathogenic
9	6595109	G	A	G6595109A	GLDC	NM_000170.2(GLDC):c.1166C>T:p.Ala389Val	coding	Pathogenic/Likely_pathogenic
9	6602119	C	T	C6602119T	GLDC	NM_000170.2(GLDC):c.1145G>A:p.Cys382Tyr	coding	Pathogenic
9	6602206	C	A	C6602206A	GLDC	NM_000170.3(GLDC):c.1059-1G>T	coding	Pathogenic
9	6604586	A	T	A6604586T	GLDC	NM_000170.2(GLDC):c.1058+2T>A	noncoding	Pathogenic
9	6604637	G	A	G6604637A	GLDC	NM_000170.2(GLDC):c.1009C>T:p.Arg337Ter	coding	Pathogenic
9	6604710	G	A	G6604710A	GLDC	NM_000170.2(GLDC):c.936C>T:p.Ile312=	coding	Benign
9	6604775	A	C	A6604775C	GLDC	NM_000170.2(GLDC):c.871T>G:p.Cys291Gly	coding	Benign/Likely_benign
9	6605121	G	A	G6605121A	GLDC	NM_000170.3(GLDC):c.861+10C>T	noncoding	Benign
9	6605186	G	A	G6605186A	GLDC	NM_000170.2(GLDC):c.806C>T:p.Thr269Met	coding	Pathogenic/Likely_pathogenic
9	6606627	G	A	G6606627A	GLDC	NM_000170.2(GLDC):c.678C>T:p.His226=	coding	Benign/Likely_benign
9	6606634	C	T	C6606634T	GLDC	NM_000170.2(GLDC):c.671G>A:p.Arg224His	coding	Benign/Likely_benign
9	6606639	A	G	A6606639G	GLDC	NM_000170.2(GLDC):c.666T>C:p.Asp222=	coding	Benign
9	6606645	G	A	G6606645A	GLDC	NM_000170.2(GLDC):c.660C>T:p.Leu220=	coding	Benign
9	6610289	G	A	G6610289A	GLDC	NM_000170.2(GLDC):c.538C>T:p.Gln180Ter	coding	Pathogenic
9	6610326	C	T	C6610326T	GLDC	NM_000170.2(GLDC):c.501G>A:p.Glu167=	coding	Benign
9	6610328	C	A	C6610328A	GLDC	NM_000170.2(GLDC):c.499G>T:p.Glu167Ter	coding	Pathogenic
9	6610335	G	C	G6610335C	GLDC	NM_000170.3(GLDC):c.492C>G:p.Tyr164Ter	coding	Pathogenic
9	6620173	A	G	A6620173G	GLDC	NM_000170.2(GLDC):c.470+11T>C	noncoding	Benign
9	6620216	C	T	C6620216T	GLDC	NM_000170.2(GLDC):c.438G>A:p.Thr146=	coding	Benign
9	6620259	G	A	G6620259A	GLDC	NM_000170.3(GLDC):c.395C>T:p.Ser132Leu	coding	Pathogenic
9	6644613	C	A	C6644613A	GLDC	NM_000170.2(GLDC):c.334+1G>T	noncoding	Pathogenic
9	6645250	G	A	G6645250A	GLDC	NM_000170.3(GLDC):c.250C>T:p.Leu84=	coding	Benign
9	6645251	C	T	C6645251T	GLDC	NM_000170.2(GLDC):c.249G>A:p.Gly83=	coding	Benign
9	6645278	G	A	G6645278A	GLDC	NM_000170.2(GLDC):c.222C>T:p.Asp74=	coding	Benign
9	6645411	C	T	C6645411T	GLDC	NM_000170.3(GLDC):c.89G>A:p.Trp30Ter	coding	Pathogenic
9	6645437	G	T	G6645437T	GLDC	NM_000170.2(GLDC):c.63C>A:p.Arg21=	coding	Benign/Likely_benign
9	6645476	C	T	C6645476T	GLDC	NM_000170.2(GLDC):c.24G>A:p.Trp8Ter	coding	Pathogenic
9	6645498	A	G	A6645498G	GLDC	NM_000170.2(GLDC):c.2T>C:p.Met1Thr	coding	Pathogenic
9	6849518	A	G	A6849518G	KDM4C	NM_015061.5(KDM4C):c.447A>G:p.Glu149=	coding	Benign
9	6849689	G	C	G6849689C	KDM4C	NM_015061.5(KDM4C):c.618G>C:p.Glu206Asp	coding	Benign
9	6888034	T	C	T6888034C	KDM4C	NM_015061.5(KDM4C):c.754T>C:p.Leu252=	coding	Benign
9	7013874	C	T	C7013874T	KDM4C	NM_015061.5(KDM4C):c.2055C>T:p.Leu685=	coding	Benign
9	7103795	G	A	G7103795A	KDM4C	NM_015061.5(KDM4C):c.2535G>A:p.Gly845=	coding	Benign
9	7103858	C	G	C7103858G	KDM4C	NM_015061.5(KDM4C):c.2598C>G:p.Val866=	coding	Benign
9	8331644	G	A	G8331644A	PTPRD	NM_002839.4(PTPRD):c.5472C>T:p.Ile1824=	coding	Benign
9	8341185	A	G	A8341185G	PTPRD	NM_002839.4(PTPRD):c.5031T>C:p.Asn1677=	coding	Benign
9	8389343	A	G	A8389343G	PTPRD	NM_002839.4(PTPRD):c.4275T>C:p.Tyr1425=	coding	Benign
9	8404607	G	A	G8404607A	PTPRD	NM_002839.4(PTPRD):c.4140C>T:p.Asn1380=	coding	Benign
9	8471046	G	A	G8471046A	PTPRD	NM_002839.4(PTPRD):c.3453C>T:p.Arg1151=	coding	Benign
9	8484190	G	A	G8484190A	PTPRD	NM_002839.4(PTPRD):c.3342C>T:p.Phe1114=	coding	Benign
9	8485787	C	G	C8485787G	PTPRD	NM_002839.4(PTPRD):c.3030G>C:p.Gln1010His	coding	Benign
9	8485928	G	A	G8485928A	PTPRD	NM_002839.4(PTPRD):c.2889C>T:p.Ile963=	coding	Benign
9	8485996	G	C	G8485996C	PTPRD	NM_002839.4(PTPRD):c.2821C>G:p.Pro941Ala	coding	Benign
9	8486132	G	C	G8486132C	PTPRD	NM_002839.4(PTPRD):c.2685C>G:p.Leu895=	coding	Benign
9	8486142	A	G	A8486142G	PTPRD	NM_002839.4(PTPRD):c.2675T>C:p.Val892Ala	coding	Benign
9	8486174	T	G	T8486174G	PTPRD	NM_002839.4(PTPRD):c.2643A>C:p.Thr881=	coding	Benign
9	8499770	G	A	G8499770A	PTPRD	NM_002839.4(PTPRD):c.2199C>T:p.Arg733=	coding	Benign
9	8507364	A	G	A8507364G	PTPRD	NM_002839.4(PTPRD):c.1614T>C:p.Pro538=	coding	Benign
9	8517838	C	T	C8517838T	PTPRD	NM_002839.4(PTPRD):c.1543+10G>A	noncoding	Benign
9	8518438	G	C	G8518438C	PTPRD	NM_002839.4(PTPRD):c.962-9C>G	noncoding	Benign
9	8526648	G	C	G8526648C	PTPRD	NM_002839.4(PTPRD):c.551-4C>G	noncoding	Benign
9	8733833	A	C	A8733833C	PTPRD	NM_002839.4(PTPRD):c.11T>G:p.Val4Gly	coding	Benign
9	12693403	G	T	G12693403T	TYRP1	NM_000550.3(TYRP1):c.-161G>T	noncoding	Benign
9	12694017	C	G	C12694017G	TYRP1	NM_000550.3(TYRP1):c.21C>G:p.Leu7=	coding	Benign
9	12694094	T	C	T12694094C	TYRP1	NM_000550.3(TYRP1):c.98T>C:p.Val33Ala	coding	Benign
9	12694255	C	A	C12694255A	TYRP1	NM_000550.3(TYRP1):c.259C>A:p.Arg87=	coding	Benign
9	12694302	C	T	C12694302T	TYRP1	NM_000550.3(TYRP1):c.306C>T:p.Asn102=	coding	Benign
9	12695626	C	G	C12695626G	TYRP1	NM_000550.3(TYRP1):c.497C>G:p.Ser166Ter	coding	Pathogenic
9	12695756	T	A	T12695756A	TYRP1	NM_000550.3(TYRP1):c.627T>A:p.Gly209=	coding	Benign/Likely_benign
9	12695772	C	G	C12695772G	TYRP1	NM_000550.3(TYRP1):c.643C>G:p.His215Asp	coding	Pathogenic
9	12698471	T	C	T12698471C	TYRP1	NM_000550.3(TYRP1):c.729T>C:p.Ser243=	coding	Benign
9	12702334	G	A	G12702334A	TYRP1	NM_000550.3(TYRP1):c.977G>A:p.Arg326His	coding	Benign/Likely_benign
9	12702424	G	A	G12702424A	TYRP1	NM_000550.3(TYRP1):c.1067G>A:p.Arg356Gln	coding	Pathogenic/Likely_pathogenic
9	12704518	G	A	G12704518A	TYRP1	NM_000550.3(TYRP1):c.1082-8G>A	noncoding	Benign/Likely_benign
9	12704561	G	A	G12704561A	TYRP1	NM_000550.3(TYRP1):c.1117G>A:p.Val373Ile	coding	Benign
9	12704564	C	T	C12704564T	TYRP1	NM_000550.3(TYRP1):c.1120C>T:p.Arg374Ter	coding	Pathogenic
9	12704706	G	A	G12704706A	TYRP1	NM_000550.3(TYRP1):c.1261+1G>A	coding	Pathogenic/Likely_pathogenic
9	12704725	C	T	C12704725T	TYRP1	NM_000550.3(TYRP1):c.1261+20C>T	noncoding	Benign
9	12708013	A	G	A12708013G	TYRP1	NM_000550.3(TYRP1):c.1278A>G:p.Pro426=	coding	Benign
9	12709068	G	A	G12709068A	TYRP1	NM_000550.3(TYRP1):c.1500G>A:p.Leu500=	coding	Benign/Likely_benign
9	12709125	T	G	T12709125G	TYRP1	NM_000550.3(TYRP1):c.1557T>G:p.Tyr519Ter	coding	Benign
9	12709305	C	A	C12709305A	TYRP1	NM_000550.3(TYRP1):c.*123C>A	noncoding	Benign
9	12709586	A	T	A12709586T	TYRP1	NM_000550.3(TYRP1):c.*404A>T	noncoding	Benign
9	12710035	A	C	A12710035C	TYRP1	NM_000550.3(TYRP1):c.*853A>C	noncoding	Benign
9	12710090	T	C	T12710090C	TYRP1	NM_000550.3(TYRP1):c.*908T>C	noncoding	Benign
9	13107002	C	T	C13107002T	MPDZ	NM_003829.5(MPDZ):c.6089G>A:p.Arg2030Gln	coding	Benign
9	13107076	G	A	G13107076A	MPDZ	NM_003829.5(MPDZ):c.6015C>T:p.Gly2005=	coding	Benign
9	13110001	G	C	G13110001C	MPDZ	NM_003829.5(MPDZ):c.5806C>G:p.Leu1936Val	coding	Benign
9	13112016	C	T	C13112016T	MPDZ	NM_003829.5(MPDZ):c.5637+8G>A	noncoding	Benign
9	13112025	C	T	C13112025T	MPDZ	NM_003829.4(MPDZ):c.5636G>A:p.Arg1879Lys	coding	Benign
9	13112114	A	G	A13112114G	MPDZ	NM_003829.4(MPDZ):c.5547T>C:p.Ala1849=	coding	Benign
9	13119576	C	A	C13119576A	MPDZ	NM_001378778.1(MPDZ):c.5305G>T:p.Gly1769Ter	coding	Pathogenic
9	13119579	G	A	G13119579A	MPDZ	NM_003829.4(MPDZ):c.5302C>T:p.Gln1768Ter	coding	Pathogenic
9	13121828	T	C	T13121828C	MPDZ	NM_003829.5(MPDZ):c.5142A>G:p.Pro1714=	coding	Benign
9	13123296	T	C	T13123296C	MPDZ	NM_003829.4(MPDZ):c.4810A>G:p.Thr1604Ala	coding	Benign
9	13125202	T	C	T13125202C	MPDZ	NM_003829.4(MPDZ):c.4807+14A>G	noncoding	Benign
9	13126598	G	T	G13126598T	MPDZ	NM_003829.4(MPDZ):c.4558-8C>A	noncoding	Benign/Likely_benign
9	13126740	T	C	T13126740C	MPDZ	NM_003829.5(MPDZ):c.4497A>G:p.Glu1499=	coding	Benign
9	13136134	T	C	T13136134C	MPDZ	NM_003829.4(MPDZ):c.4341A>G:p.Val1447=	coding	Benign
9	13136809	A	G	A13136809G	MPDZ	NM_003829.5(MPDZ):c.4201-6T>C	noncoding	Benign
9	13137986	G	A	G13137986A	MPDZ	NM_003829.5(MPDZ):c.4171C>T:p.Arg1391Ter	coding	Pathogenic/Likely_pathogenic
9	13139986	C	T	C13139986T	MPDZ	NM_003829.5(MPDZ):c.4003+1G>A	noncoding	Pathogenic
9	13140094	G	C	G13140094C	MPDZ	NM_003829.5(MPDZ):c.3896C>G:p.Pro1299Arg	coding	Benign
9	13140097	G	A	G13140097A	MPDZ	NM_003829.4(MPDZ):c.3893C>T:p.Pro1298Leu	coding	Benign
9	13143493	A	T	A13143493T	MPDZ	NM_003829.5(MPDZ):c.3813T>A:p.Ala1271=	coding	Benign
9	13150532	T	C	T13150532C	MPDZ	NM_003829.4(MPDZ):c.3609A>G:p.Lys1203=	coding	Benign
9	13158063	C	T	C13158063T	MPDZ	NM_003829.5(MPDZ):c.3407G>A:p.Ser1136Asn	coding	Benign
9	13162736	G	C	G13162736C	MPDZ	NM_003829.5(MPDZ):c.3314C>G:p.Ser1105Cys	coding	Benign
9	13168409	G	A	G13168409A	MPDZ	NM_003829.4(MPDZ):c.3211C>T:p.Arg1071Ter	coding	Pathogenic
9	13176153	G	A	G13176153A	MPDZ	NM_003829.4(MPDZ):c.2914C>T:p.Pro972Ser	coding	Benign
9	13176226	T	C	T13176226C	MPDZ	NM_003829.5(MPDZ):c.2841A>G:p.Glu947=	coding	Benign
9	13176313	C	T	C13176313T	MPDZ	NM_003829.4(MPDZ):c.2754G>A:p.Ser918=	coding	Benign
9	13176394	A	G	A13176394G	MPDZ	NM_003829.5(MPDZ):c.2673T>C:p.Asp891=	coding	Benign
9	13183465	C	T	C13183465T	MPDZ	NM_003829.4(MPDZ):c.2602G>A:p.Gly868Ser	coding	Benign
9	13183547	T	C	T13183547C	MPDZ	NM_003829.5(MPDZ):c.2520A>G:p.Thr840=	coding	Benign
9	13183549	T	C	T13183549C	MPDZ	NM_003829.5(MPDZ):c.2518A>G:p.Thr840Ala	coding	Benign
9	13186293	G	C	G13186293C	MPDZ	NM_003829.5(MPDZ):c.2458C>G:p.Leu820Val	coding	Benign
9	13186312	T	C	T13186312C	MPDZ	NM_003829.5(MPDZ):c.2439A>G:p.Ala813=	coding	Benign
9	13186322	C	G	C13186322G	MPDZ	NM_003829.5(MPDZ):c.2429G>C:p.Cys810Ser	coding	Benign
9	13188823	C	T	C13188823T	MPDZ	NM_003829.5(MPDZ):c.2325G>A:p.Pro775=	coding	Benign
9	13188883	G	A	G13188883A	MPDZ	NM_003829.5(MPDZ):c.2265C>T:p.Asn755=	coding	Benign
9	13188918	G	A	G13188918A	MPDZ	NM_003829.4(MPDZ):c.2230C>T:p.Arg744Ter	coding	Pathogenic
9	13190107	T	C	T13190107C	MPDZ	NM_003829.5(MPDZ):c.2154+7A>G	noncoding	Benign
9	13190163	T	A	T13190163A	MPDZ	NM_003829.4(MPDZ):c.2105A>T:p.Glu702Val	coding	Benign
9	13190164	C	T	C13190164T	MPDZ	NM_003829.4(MPDZ):c.2104G>A:p.Glu702Lys	coding	Benign
9	13190273	G	A	G13190273A	MPDZ	NM_003829.5(MPDZ):c.1995C>T:p.Ile665=	coding	Benign
9	13190278	A	G	A13190278G	MPDZ	NM_003829.4(MPDZ):c.1990T>C:p.Phe664Leu	coding	Benign/Likely_benign
9	13205986	G	A	G13205986A	MPDZ	NM_003829.5(MPDZ):c.1404C>T:p.Ala468=	coding	Benign
9	13206089	G	C	G13206089C	MPDZ	NM_003829.5(MPDZ):c.1301C>G:p.Thr434Arg	coding	Benign
9	13217217	T	A	T13217217A	MPDZ	NM_003829.5(MPDZ):c.1164A>T:p.Gly388=	coding	Benign
9	13219571	T	C	T13219571C	MPDZ	NM_003829.4(MPDZ):c.1074A>G:p.Thr358=	coding	Benign
9	13219594	G	A	G13219594A	MPDZ	NM_003829.5(MPDZ):c.1051C>T:p.Leu351Phe	coding	Benign
9	13219604	C	G	C13219604G	MPDZ	NM_003829.4(MPDZ):c.1041G>C:p.Leu347Phe	coding	Benign/Likely_benign
9	13221402	T	C	T13221402C	MPDZ	NM_003829.5(MPDZ):c.846A>G:p.Lys282=	coding	Benign
9	13221434	T	C	T13221434C	MPDZ	NM_003829.5(MPDZ):c.814A>G:p.Ile272Val	coding	Benign
9	13221493	C	T	C13221493T	MPDZ	NM_003829.4(MPDZ):c.755G>A:p.Trp252Ter	coding	Pathogenic
9	13222317	G	A	G13222317A	MPDZ	NM_003829.4(MPDZ):c.663C>T:p.Ala221=	coding	Benign
9	13222322	T	G	T13222322G	MPDZ	NM_003829.5(MPDZ):c.658A>C:p.Ile220Leu	coding	Benign
9	13222352	G	A	G13222352A	MPDZ	NM_003829.4(MPDZ):c.628C>T:p.Gln210Ter	coding	Pathogenic
9	13222386	C	T	C13222386T	MPDZ	NM_003829.5(MPDZ):c.594G>A:p.Gln198=	coding	Benign
9	13222398	C	G	C13222398G	MPDZ	NM_003829.5(MPDZ):c.582G>C:p.Gln194His	coding	Benign
9	13222419	T	C	T13222419C	MPDZ	NM_003829.5(MPDZ):c.561A>G:p.Gln187=	coding	Benign
9	13223575	G	A	G13223575A	MPDZ	NM_003829.5(MPDZ):c.529C>T:p.His177Tyr	coding	Benign
9	13224442	C	A	C13224442A	MPDZ	NM_003829.5(MPDZ):c.325G>T:p.Gly109Cys	coding	Benign
9	13224489	A	C	A13224489C	MPDZ	NM_003829.5(MPDZ):c.278T>G:p.Phe93Cys	coding	Benign
9	13224492	G	A	G13224492A	MPDZ	NM_003829.5(MPDZ):c.275C>T:p.Ser92Leu	coding	Benign
9	13247673	G	A	G13247673A	MPDZ	NM_003829.5(MPDZ):c.145C>T:p.Leu49=	coding	Benign
9	14307156	A	G	A14307156G	NFIB	NM_001190737.2(NFIB):c.395T>C:p.Leu132Pro	coding	Pathogenic/Likely_pathogenic
9	14307175	T	C	T14307175C	NFIB	NM_001190737.2(NFIB):c.376A>G:p.Lys126Glu	coding	Pathogenic/Likely_pathogenic
9	14307210	T	G	T14307210G	NFIB	NM_001190737.2(NFIB):c.341A>C:p.Lys114Thr	coding	Pathogenic
9	14307442	G	A	G14307442A	NFIB	NM_001190737.2(NFIB):c.109C>T:p.Arg37Ter	coding	Pathogenic
9	14735018	C	T	C14735018T	FREM1	NM_144966.5(FREM1):c.*2378G>A	noncoding	Benign
9	14735055	T	C	T14735055C	FREM1	NM_144966.5(FREM1):c.*2341A>G	noncoding	Benign
9	14735066	G	C	G14735066C	FREM1	NM_144966.5(FREM1):c.*2330C>G	noncoding	Benign
9	14735076	T	G	T14735076G	FREM1	NM_144966.5(FREM1):c.*2320A>C	noncoding	Benign
9	14735100	C	T	C14735100T	FREM1	NM_144966.5(FREM1):c.*2296G>A	noncoding	Benign
9	14735142	T	C	T14735142C	FREM1	NM_144966.5(FREM1):c.*2254A>G	noncoding	Benign
9	14735167	G	A	G14735167A	FREM1	NM_144966.5(FREM1):c.*2229C>T	noncoding	Benign
9	14735189	C	T	C14735189T	FREM1	NM_144966.5(FREM1):c.*2207G>A	noncoding	Benign
9	14735531	A	G	A14735531G	FREM1	NM_144966.5(FREM1):c.*1865T>C	noncoding	Benign
9	14735612	T	C	T14735612C	FREM1	NM_144966.5(FREM1):c.*1784A>G	noncoding	Benign
9	14735696	A	G	A14735696G	FREM1	NM_144966.5(FREM1):c.*1700T>C	noncoding	Benign
9	14735931	C	T	C14735931T	FREM1	NM_144966.5(FREM1):c.*1465G>A	noncoding	Benign
9	14736020	C	A	C14736020A	FREM1	NM_144966.5(FREM1):c.*1376G>T	noncoding	Benign
9	14736097	T	C	T14736097C	FREM1	NM_144966.5(FREM1):c.*1299A>G	noncoding	Benign
9	14736140	A	T	A14736140T	FREM1	NM_144966.5(FREM1):c.*1256T>A	noncoding	Benign
9	14736411	A	C	A14736411C	FREM1	NM_144966.5(FREM1):c.*985T>G	noncoding	Benign
9	14736638	A	T	A14736638T	FREM1	NM_144966.5(FREM1):c.*758T>A	noncoding	Benign
9	14736867	G	A	G14736867A	FREM1	NM_144966.5(FREM1):c.*529C>T	noncoding	Benign
9	14737007	A	G	A14737007G	FREM1	NM_144966.5(FREM1):c.*389T>C	noncoding	Benign
9	14737248	T	C	T14737248C	FREM1	NM_144966.5(FREM1):c.*148A>G	noncoding	Benign
9	14737408	G	A	G14737408A	FREM1	NM_144966.5(FREM1):c.6528C>T:p.Ser2176=	coding	Benign/Likely_benign
9	14737508	T	G	T14737508G	FREM1	NM_144966.5(FREM1):c.6428A>C:p.Gln2143Pro	coding	Benign
9	14740210	T	C	T14740210C	FREM1	NM_144966.5(FREM1):c.6279A>G:p.Val2093=	coding	Benign/Likely_benign
9	14740238	A	C	A14740238C	FREM1	NM_144966.5(FREM1):c.6255-4T>G	noncoding	Benign
9	14746472	A	G	A14746472G	FREM1	NM_144966.5(FREM1):c.6139-4T>C	noncoding	Benign
9	14746472	A	T	A14746472T	FREM1	NM_144966.5(FREM1):c.6139-4T>A	noncoding	Benign
9	14747414	A	G	A14747414G	FREM1	NM_144966.5(FREM1):c.5859T>C:p.Val1953=	coding	Benign
9	14747711	A	T	A14747711T	FREM1	NM_144966.5(FREM1):c.5814T>A:p.Val1938=	coding	Benign
9	14750218	A	G	A14750218G	FREM1	NM_144966.5(FREM1):c.5466T>C:p.Asp1822=	coding	Benign
9	14759777	T	C	T14759777C	FREM1	NM_144966.5(FREM1):c.5329A>G:p.Ile1777Val	coding	Benign
9	14759894	G	T	G14759894T	FREM1	NM_144966.5(FREM1):c.5212C>A:p.Leu1738Met	coding	Benign/Likely_benign
9	14770660	G	T	G14770660T	FREM1	NM_144966.5(FREM1):c.5004C>A:p.Ile1668=	coding	Benign
9	14770723	G	T	G14770723T	FREM1	NM_144966.5(FREM1):c.4941C>A:p.Tyr1647Ter	coding	Pathogenic
9	14770789	T	G	T14770789G	FREM1	NM_144966.5(FREM1):c.4875A>C:p.Lys1625Asn	coding	Benign
9	14770805	A	G	A14770805G	FREM1	NM_144966.5(FREM1):c.4859T>C:p.Val1620Ala	coding	Benign
9	14775781	A	G	A14775781G	FREM1	NM_144966.5(FREM1):c.4857+8T>C	noncoding	Benign
9	14775855	A	G	A14775855G	FREM1	NM_144966.5(FREM1):c.4791T>C:p.Asp1597=	coding	Benign
9	14775861	G	A	G14775861A	FREM1	NM_144966.5(FREM1):c.4785C>T:p.Ala1595=	coding	Benign
9	14775919	T	A	T14775919A	FREM1	NM_144966.5(FREM1):c.4727A>T:p.Asn1576Ile	coding	Benign
9	14775935	C	T	C14775935T	FREM1	NM_144966.5(FREM1):c.4711G>A:p.Asp1571Asn	coding	Benign/Likely_benign
9	14776029	C	T	C14776029T	FREM1	NM_144966.5(FREM1):c.4617G>A:p.Ala1539=	coding	Benign
9	14776083	G	T	G14776083T	FREM1	NM_144966.5(FREM1):c.4563C>A:p.Ala1521=	coding	Benign
9	14776142	C	T	C14776142T	FREM1	NM_144966.5(FREM1):c.4504G>A:p.Val1502Met	coding	Benign
9	14776147	T	A	T14776147A	FREM1	NM_144966.5(FREM1):c.4499A>T:p.Glu1500Val	coding	Pathogenic
9	14776180	C	T	C14776180T	FREM1	NM_144966.5(FREM1):c.4466G>A:p.Arg1489Gln	coding	Benign
9	14784391	G	A	G14784391A	FREM1	NM_144966.5(FREM1):c.4421C>T:p.Thr1474Ile	coding	Benign
9	14784435	A	G	A14784435G	FREM1	NM_144966.5(FREM1):c.4377T>C:p.Asp1459=	coding	Benign
9	14784494	C	T	C14784494T	FREM1	NM_144966.5(FREM1):c.4318G>A:p.Gly1440Ser	coding	Pathogenic
9	14784568	G	C	G14784568C	FREM1	NM_144966.5(FREM1):c.4244C>G:p.Thr1415Ser	coding	Benign
9	14792814	C	A	C14792814A	FREM1	NM_144966.5(FREM1):c.3910G>T:p.Glu1304Ter	coding	Pathogenic
9	14797518	A	T	A14797518T	FREM1	NM_144966.5(FREM1):c.3819T>A:p.Asp1273Glu	coding	Benign
9	14797629	C	T	C14797629T	FREM1	NM_144966.5(FREM1):c.3708G>A:p.Thr1236=	coding	Benign
9	14801689	T	C	T14801689C	FREM1	NM_144966.5(FREM1):c.3657A>G:p.Ala1219=	coding	Benign
9	14801712	C	A	C14801712A	FREM1	NM_144966.5(FREM1):c.3634G>T:p.Ala1212Ser	coding	Benign
9	14801740	G	C	G14801740C	FREM1	NM_144966.5(FREM1):c.3606C>G:p.Ser1202Arg	coding	Benign
9	14801771	C	T	C14801771T	FREM1	NM_144966.5(FREM1):c.3575G>A:p.Arg1192His	coding	Benign
9	14801868	C	T	C14801868T	FREM1	NM_144966.5(FREM1):c.3478G>A:p.Glu1160Lys	coding	Benign
9	14804945	A	G	A14804945G	FREM1	NM_144966.5(FREM1):c.3471+11T>C	noncoding	Benign
9	14806850	C	A	C14806850A	FREM1	NM_144966.5(FREM1):c.3089-4G>T	noncoding	Benign
9	14807980	C	T	C14807980T	FREM1	NM_144966.5(FREM1):c.3048G>A:p.Thr1016=	coding	Benign
9	14812909	G	A	G14812909A	FREM1	NM_144966.5(FREM1):c.2796C>T:p.Arg932=	coding	Benign/Likely_benign
9	14813074	G	A	G14813074A	FREM1	NM_144966.5(FREM1):c.2641-10C>T	noncoding	Benign
9	14816817	G	A	G14816817A	FREM1	NM_144966.5(FREM1):c.2601C>T:p.Thr867=	coding	Benign
9	14816831	G	C	G14816831C	FREM1	NM_144966.5(FREM1):c.2587C>G:p.Leu863Val	coding	Benign
9	14819372	G	T	G14819372T	FREM1	NM_144966.5(FREM1):c.2408C>A:p.Ser803Tyr	coding	Benign
9	14819422	T	C	T14819422C	FREM1	NM_144966.5(FREM1):c.2358A>G:p.Lys786=	coding	Benign
9	14823220	A	G	A14823220G	FREM1	NM_144966.5(FREM1):c.2277T>C:p.Gly759=	coding	Benign
9	14823223	G	T	G14823223T	FREM1	NM_144966.5(FREM1):c.2274C>A:p.Gly758=	coding	Benign
9	14824090	T	C	T14824090C	FREM1	NM_144966.5(FREM1):c.2104A>G:p.Met702Val	coding	Benign
9	14824801	G	A	G14824801A	FREM1	NM_144966.5(FREM1):c.2073C>T:p.Ser691=	coding	Benign
9	14824929	G	A	G14824929A	FREM1	NM_144966.5(FREM1):c.1945C>T:p.Arg649Trp	coding	Pathogenic
9	14824990	C	T	C14824990T	FREM1	NM_144966.5(FREM1):c.1884G>A:p.Val628=	coding	Benign
9	14841537	A	G	A14841537G	FREM1	NM_144966.5(FREM1):c.1791T>C:p.Tyr597=	coding	Benign
9	14842542	G	A	G14842542A	FREM1	NM_144966.5(FREM1):c.1512C>T:p.His504=	coding	Benign
9	14842559	T	C	T14842559C	FREM1	NM_144966.5(FREM1):c.1495A>G:p.Ile499Val	coding	Benign
9	14842562	G	A	G14842562A	FREM1	NM_144966.5(FREM1):c.1492C>T:p.Arg498Trp	coding	Benign/Likely_benign
9	14842590	G	A	G14842590A	FREM1	NM_144966.5(FREM1):c.1464C>T:p.Ser488=	coding	Benign/Likely_benign
9	14846038	C	G	C14846038G	FREM1	NM_144966.5(FREM1):c.1315G>C:p.Val439Leu	coding	Benign
9	14851389	C	T	C14851389T	FREM1	NM_144966.5(FREM1):c.1047G>A:p.Leu349=	coding	Benign
9	14851596	C	T	C14851596T	FREM1	NM_144966.5(FREM1):c.840G>A:p.Ala280=	coding	Benign
9	14851619	T	C	T14851619C	FREM1	NM_144966.5(FREM1):c.829-12A>G	noncoding	Benign
9	14857742	T	C	T14857742C	FREM1	NM_144966.5(FREM1):c.639A>G:p.Arg213=	coding	Benign
9	14857746	A	C	A14857746C	FREM1	NM_144966.5(FREM1):c.635T>G:p.Leu212Arg	coding	Benign
9	14859298	G	A	G14859298A	FREM1	NM_144966.5(FREM1):c.516C>T:p.Thr172=	coding	Benign
9	14859358	T	C	T14859358C	FREM1	NM_144966.5(FREM1):c.456A>G:p.Gln152=	coding	Benign
9	14863865	A	G	A14863865G	FREM1	NM_144966.5(FREM1):c.273T>C:p.Tyr91=	coding	Benign
9	14868933	C	A	C14868933A	FREM1	NM_144966.5(FREM1):c.45G>T:p.Leu15=	coding	Benign
9	14868986	G	C	G14868986C	FREM1	NM_144966.5(FREM1):c.-9C>G	noncoding	Benign
9	14869112	C	G	C14869112G	FREM1	NM_144966.5(FREM1):c.-135G>C	noncoding	Benign
9	14869181	A	C	A14869181C	FREM1	NM_144966.5(FREM1):c.-204T>G	noncoding	Benign
9	15175041	T	C	T15175041C	TTC39B	NM_152574.2(TTC39B):c.1936A>G:p.Ile646Val	coding	Benign
9	15177720	T	C	T15177720C	TTC39B	NM_152574.2(TTC39B):c.1818A>G:p.Leu606=	coding	Benign
9	15187012	T	C	T15187012C	TTC39B	NM_152574.2(TTC39B):c.1419A>G:p.Ala473=	coding	Benign
9	15189721	G	A	G15189721A	TTC39B	NM_152574.2(TTC39B):c.1173+4C>T	coding	Benign
9	15191211	A	G	A15191211G	TTC39B	NM_152574.2(TTC39B):c.975T>C:p.Phe325=	coding	Benign
9	15225949	C	T	C15225949T	TTC39B	NM_152574.2(TTC39B):c.339G>A:p.Ala113=	coding	Benign
9	15466848	G	C	G15466848C	PSIP1	NM_033222.5(PSIP1):c.1432C>G:p.Leu478Val	coding	Benign
9	15468635	T	A	T15468635A	PSIP1	NM_033222.5(PSIP1):c.1415A>T:p.Gln472Leu	coding	Benign
9	15486060	A	G	A15486060G	PSIP1	NM_033222.5(PSIP1):c.402T>C:p.Thr134=	coding	Benign
9	15510109	T	C	T15510109C	PSIP1	NM_033222.5(PSIP1):c.72+8A>G	noncoding	Benign
9	15578892	T	C	T15578892C	CCDC171	NM_173550.4(CCDC171):c.221T>C:p.Val74Ala	coding	Benign
9	15723684	A	C	A15723684C	CCDC171	NM_173550.4(CCDC171):c.1429A>C:p.Lys477Gln	coding	Benign
9	15744644	T	A	T15744644A	CCDC171	NM_173550.4(CCDC171):c.2421T>A:p.Ala807=	coding	Benign
9	16419369	T	C	T16419369C	BNC2	NM_017637.6(BNC2):c.2920A>G:p.Ile974Val	coding	Benign
9	16419429	C	T	C16419429T	BNC2;BNC2-AS1	NM_017637.6(BNC2):c.2860G>A:p.Ala954Thr	coding	Benign
9	16419521	G	A	G16419521A	BNC2	NM_017637.6(BNC2):c.2768C>T:p.Ala923Val	coding	Benign/Likely_benign
9	16419626	T	C	T16419626C	BNC2	NM_017637.6(BNC2):c.2663A>G:p.His888Arg	coding	Pathogenic
9	16435056	G	A	G16435056A	BNC2	NM_017637.6(BNC2):c.2636+499C>T	noncoding	Pathogenic
9	16436247	G	A	G16436247A	BNC2	NM_017637.6(BNC2):c.1947C>T:p.Thr649=	coding	Benign
9	16436326	G	T	G16436326T	BNC2	NM_017637.6(BNC2):c.1868C>A:p.Pro623His	coding	Benign
9	16436377	G	A	G16436377A	BNC2	NM_017637.6(BNC2):c.1817C>T:p.Pro606Leu	coding	Benign
9	16436546	A	C	A16436546C	BNC2	NM_017637.6(BNC2):c.1648T>G:p.Leu550Val	coding	Benign
9	16436652	G	A	G16436652A	BNC2	NM_017637.6(BNC2):c.1542C>T:p.Thr514=	coding	Benign
9	16437258	G	A	G16437258A	BNC2	NM_017637.6(BNC2):c.936C>T:p.Phe312=	coding	Benign
9	16738391	G	A	G16738391A	BNC2	NM_017637.6(BNC2):c.98C>T:p.Pro33Leu	coding	Benign
9	17273796	G	T	G17273796T	CNTLN	NM_017738.4(CNTLN):c.913G>T:p.Ala305Ser	coding	Benign
9	17309122	G	A	G17309122A	CNTLN	NM_017738.4(CNTLN):c.1211G>A:p.Ser404Asn	coding	Benign
9	17340841	T	A	T17340841A	CNTLN	NM_017738.4(CNTLN):c.1659T>A:p.Asp553Glu	coding	Benign
9	17394804	T	C	T17394804C	CNTLN	NM_017738.4(CNTLN):c.2350T>C:p.Leu784=	coding	Benign
9	17394854	G	A	G17394854A	CNTLN	NM_017738.4(CNTLN):c.2400G>A:p.Gln800=	coding	Benign
9	17415962	G	T	G17415962T	CNTLN	NM_017738.4(CNTLN):c.2891-4G>T	noncoding	Benign
9	17457515	A	T	A17457515T	CNTLN	NM_017738.4(CNTLN):c.3115-9A>T	noncoding	Benign
9	17466804	A	G	A17466804G	CNTLN	NM_017738.4(CNTLN):c.3768A>G:p.Ala1256=	coding	Benign
9	17786430	C	T	C17786430T	SH3GL2	NM_003026.5(SH3GL2):c.237C>T:p.Gly79=	coding	Benign
9	18504870	A	G	A18504870G	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.105A>G:p.Leu35=	coding	Benign
9	18533259	A	G	A18533259G	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.204A>G:p.Gly68=	coding	Benign
9	18753454	A	G	A18753454G	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.2163A>G:p.Gln721=	coding	Benign
9	18777241	C	T	C18777241T	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.3012C>T:p.Asn1004=	coding	Benign
9	18777403	G	A	G18777403A	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.3174G>A:p.Pro1058=	coding	Benign
9	18777466	C	T	C18777466T	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.3237C>T:p.Asp1079=	coding	Benign
9	18795389	C	T	C18795389T	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.3678-8C>T	noncoding	Benign
9	18906749	C	T	C18906749T	ADAMTSL1	NM_001040272.6(ADAMTSL1):c.5019C>T:p.Ser1673=	coding	Benign
9	19116591	G	A	G19116591A	PLIN2	NM_001122.4(PLIN2):c.971C>T:p.Thr324Met	coding	Benign
9	19120982	C	G	C19120982G	PLIN2	NM_001122.4(PLIN2):c.493G>C:p.Gly165Arg	coding	Benign
9	19376395	A	G	A19376395G	RPS6	NM_001010.3(RPS6):c.655-7T>C	noncoding	Benign
9	19378522	G	C	G19378522C	RPS6	NM_001010.3(RPS6):c.350-8C>G	noncoding	Benign
9	19516337	T	C	T19516337C	SLC24A2	NM_020344.3(SLC24A2):c.1802A>G:p.Asn601Ser	coding	Benign/Likely_benign
9	20414378	A	G	A20414378G	MLLT3	NM_004529.4(MLLT3):c.468T>C:p.Ser156=	coding	Benign
9	20764871	T	C	T20764871C	FOCAD	NM_017794.4(FOCAD):c.497T>C:p.Leu166Ser	coding	Benign
9	20770032	G	A	G20770032A	FOCAD	NM_017794.4(FOCAD):c.700G>A:p.Val234Ile	coding	Benign
9	20789425	A	G	A20789425G	FOCAD	NM_017794.4(FOCAD):c.1272A>G:p.Val424=	coding	Benign
9	20789569	C	T	C20789569T	FOCAD	NM_017794.4(FOCAD):c.1416C>T:p.Leu472=	coding	Benign
9	20820330	A	G	A20820330G	FOCAD	NM_017794.4(FOCAD):c.1567A>G:p.Ile523Val	coding	Benign
9	20820937	G	T	G20820937T	FOCAD	NM_017794.4(FOCAD):c.1663-4G>T	noncoding	Benign
9	20823014	T	C	T20823014C	FOCAD	NM_017794.4(FOCAD):c.1819T>C:p.Leu607=	coding	Benign
9	20866920	C	T	C20866920T	FOCAD	NM_017794.4(FOCAD):c.2107-9C>T	noncoding	Benign
9	20885241	G	A	G20885241A	FOCAD	NM_017794.4(FOCAD):c.2625+11G>A	noncoding	Benign
9	20923669	G	A	G20923669A	FOCAD	NM_017794.4(FOCAD):c.2862G>A:p.Pro954=	coding	Benign
9	20933020	A	C	A20933020C	FOCAD	NM_017794.4(FOCAD):c.3324A>C:p.Ile1108=	coding	Benign
9	20933031	A	C	A20933031C	FOCAD	NM_017794.4(FOCAD):c.3335A>C:p.Glu1112Ala	coding	Benign
9	20944630	G	A	G20944630A	FOCAD	NM_017794.4(FOCAD):c.3411G>A:p.Thr1137=	coding	Benign
9	20944765	G	A	G20944765A	FOCAD	NM_017794.4(FOCAD):c.3546G>A:p.Thr1182=	coding	Benign
9	20981685	G	A	G20981685A	FOCAD	NM_017794.4(FOCAD):c.4637G>A:p.Arg1546Gln	coding	Benign
9	20988419	C	T	C20988419T	FOCAD	NM_017794.4(FOCAD):c.4994C>T:p.Ala1665Val	coding	Benign
9	20988427	A	G	A20988427G	FOCAD	NM_017794.4(FOCAD):c.5002A>G:p.Lys1668Glu	coding	Benign
9	20990165	G	A	G20990165A	FOCAD	NM_017794.4(FOCAD):c.5047G>A:p.Ala1683Thr	coding	Benign
9	20990365	G	T	G20990365T	FOCAD	NM_017794.4(FOCAD):c.5247G>T:p.Gln1749His	coding	Benign
9	21077372	T	C	T21077372C	IFNB1	NM_002176.4(IFNB1):c.498A>G:p.Ile166Met	coding	Benign
9	21077638	A	G	A21077638G	IFNB1	NM_002176.4(IFNB1):c.232T>C:p.Leu78=	coding	Benign
9	21077642	G	A	G21077642A	IFNB1	NM_002176.4(IFNB1):c.228C>T:p.Ala76=	coding	Benign
9	21077690	G	T	G21077690T	IFNB1	NM_002176.4(IFNB1):c.180C>A:p.Asp60Glu	coding	Benign
9	21187429	T	C	T21187429C	IFNA4	NM_021068.3(IFNA4):c.103A>G:p.Arg35Gly	coding	Benign
9	21207001	C	G	C21207001G	IFNA10	NM_002171.2(IFNA10):c.97G>C:p.Gly33Arg	coding	Benign
9	21207006	C	G	C21207006G	IFNA10	NM_002171.2(IFNA10):c.92G>C:p.Ser31Thr	coding	Benign
9	21216935	G	A	G21216935A	IFNA16	NM_002173.3(IFNA16):c.371C>T:p.Thr124Ile	coding	Benign
9	21217160	T	G	T21217160G	IFNA16	NM_002173.3(IFNA16):c.146A>C:p.His49Pro	coding	Benign
9	21239448	G	A	G21239448A	IFNA14	NM_002172.3(IFNA14):c.488C>T:p.Ala163Val	coding	Benign
9	21304914	G	A	G21304914A	IFNA5	NM_002169.2(IFNA5):c.343C>T:p.Gln115Ter	coding	Benign
9	21305060	A	G	A21305060G	IFNA5	NM_002169.2(IFNA5):c.197T>C:p.Phe66Ser	coding	Benign
9	21384793	G	A	G21384793A	IFNA2	NM_000605.4(IFNA2):c.537C>T:p.Asn179=	coding	Benign
9	21384817	C	T	C21384817T	IFNA2	NM_000605.4(IFNA2):c.513G>A:p.Met171Ile	coding	Benign
9	21385160	T	C	T21385160C	IFNA2	NM_000605.4(IFNA2):c.170A>G:p.His57Arg	coding	Benign
9	21385193	C	T	C21385193T	IFNA2	NM_000605.4(IFNA2):c.137G>A:p.Arg46Lys	coding	Benign
9	21385313	G	T	G21385313T	IFNA2	NM_000605.4(IFNA2):c.17C>A:p.Ala6Asp	coding	Benign
9	21440536	T	C	T21440536C	IFNA1	NM_024013.3(IFNA1):c.29T>C:p.Val10Ala	coding	Benign
9	21440549	C	T	C21440549T	IFNA1	NM_024013.3(IFNA1):c.42C>T:p.Leu14=	coding	Benign
9	21440917	C	T	C21440917T	IFNA1	NM_024013.3(IFNA1):c.410C>T:p.Ala137Val	coding	Benign
9	21440995	C	G	C21440995G	IFNA1	NM_024013.3(IFNA1):c.488C>G:p.Ala163Gly	coding	Benign
9	21802744	C	G	C21802744G	MTAP	NM_002451.4(MTAP):c.-5C>G	noncoding	Benign
9	21815438	A	C	A21815438C	MTAP	NM_002451.4(MTAP):c.39A>C:p.Gly13=	coding	Benign
9	21815510	A	G	A21815510G	MTAP	NM_002451.4(MTAP):c.111A>G:p.Pro37=	coding	Benign
9	21816704	T	C	T21816704C	MTAP	NM_002451.4(MTAP):c.121-10T>C	noncoding	Benign
9	21816729	A	C	A21816729C	MTAP	NM_002451.4(MTAP):c.136A>C:p.Ile46Leu	coding	Benign
9	21816759	G	A	G21816759A	MTAP	NM_002451.4(MTAP):c.166G>A:p.Val56Ile	coding	Benign
9	21816784	T	A	T21816784A	MTAP	NM_002451.4(MTAP):c.179+12T>A	noncoding	Benign
9	21818170	C	T	C21818170T	MTAP	NM_002451.4(MTAP):c.315C>T:p.Gly105=	coding	Benign
9	21854741	C	T	C21854741T	MTAP	NM_002451.4(MTAP):c.561C>T:p.Arg187=	coding	Benign
9	21854746	G	T	G21854746T	MTAP	NM_002451.4(MTAP):c.566G>T:p.Trp189Leu	coding	Benign
9	21854783	G	A	G21854783A	MTAP	NM_002451.4(MTAP):c.603G>A:p.Glu201=	coding	Benign
9	21854833	C	T	C21854833T	MTAP	NM_002451.4(MTAP):c.653C>T:p.Ala218Val	coding	Benign
9	21859290	A	G	A21859290G	MTAP	NM_002451.4(MTAP):c.691-13A>G	noncoding	Benign
9	21859380	T	G	T21859380G	MTAP	NM_002451.4(MTAP):c.768T>G:p.Pro256=	coding	Benign
9	21862029	C	A	C21862029A	MTAP	NM_002451.4(MTAP):c.*15C>A	noncoding	Benign
9	21862031	A	G	A21862031G	MTAP	NM_002451.4(MTAP):c.*17A>G	noncoding	Benign
9	21862272	A	C	A21862272C	MTAP	NM_002451.4(MTAP):c.*258A>C	noncoding	Benign
9	21862273	C	A	C21862273A	MTAP	NM_002451.4(MTAP):c.*259C>A	noncoding	Benign
9	21862342	T	C	T21862342C	MTAP	NM_002451.4(MTAP):c.*328T>C	noncoding	Benign
9	21862407	G	C	G21862407C	MTAP	NM_002451.4(MTAP):c.*393G>C	noncoding	Benign
9	21862550	G	A	G21862550A	MTAP	NM_002451.4(MTAP):c.*536G>A	noncoding	Benign
9	21862620	A	G	A21862620G	MTAP	NM_002451.4(MTAP):c.*606A>G	noncoding	Benign
9	21862671	T	C	T21862671C	MTAP	NM_002451.4(MTAP):c.*657T>C	noncoding	Benign
9	21862721	A	G	A21862721G	MTAP	NM_002451.4(MTAP):c.*707A>G	noncoding	Benign
9	21862811	C	T	C21862811T	MTAP	NM_002451.4(MTAP):c.*797C>T	noncoding	Benign
9	21862818	T	C	T21862818C	MTAP	NM_002451.4(MTAP):c.*804T>C	noncoding	Benign
9	21862898	T	A	T21862898A	MTAP	NM_002451.4(MTAP):c.*884T>A	noncoding	Benign
9	21862909	G	A	G21862909A	MTAP	NM_002451.4(MTAP):c.*895G>A	noncoding	Benign
9	21863052	A	G	A21863052G	MTAP	NM_002451.4(MTAP):c.*1038A>G	noncoding	Benign
9	21863079	A	G	A21863079G	MTAP	NM_002451.4(MTAP):c.*1065A>G	noncoding	Benign
9	21863195	A	G	A21863195G	MTAP	NM_002451.4(MTAP):c.*1181A>G	noncoding	Benign
9	21863239	G	A	G21863239A	MTAP	NM_002451.4(MTAP):c.*1225G>A	noncoding	Benign
9	21863657	G	T	G21863657T	MTAP	NM_002451.4(MTAP):c.*1643G>T	noncoding	Benign
9	21863743	G	A	G21863743A	MTAP	NM_002451.4(MTAP):c.*1729G>A	noncoding	Benign
9	21863950	C	T	C21863950T	MTAP	NM_002451.4(MTAP):c.*1936C>T	noncoding	Benign
9	21864099	G	A	G21864099A	MTAP	NM_002451.4(MTAP):c.*2085G>A	noncoding	Benign
9	21864202	C	T	C21864202T	MTAP	NM_002451.4(MTAP):c.*2188C>T	noncoding	Benign
9	21864252	C	T	C21864252T	MTAP	NM_002451.4(MTAP):c.*2238C>T	noncoding	Benign
9	21864269	A	G	A21864269G	MTAP	NM_002451.4(MTAP):c.*2255A>G	noncoding	Benign
9	21864293	T	G	T21864293G	MTAP	NM_002451.4(MTAP):c.*2279T>G	noncoding	Benign
9	21864379	C	T	C21864379T	MTAP	NM_002451.4(MTAP):c.*2365C>T	noncoding	Benign
9	21864536	A	G	A21864536G	MTAP	NM_002451.4(MTAP):c.*2522A>G	noncoding	Benign
9	21864553	A	G	A21864553G	MTAP	NM_002451.4(MTAP):c.*2539A>G	noncoding	Benign
9	21864887	C	T	C21864887T	MTAP	NM_002451.4(MTAP):c.*2873C>T	noncoding	Benign
9	21968223	G	C	G21968223C	CDKN2A	NM_000077.4(CDKN2A):c.*6C>G	noncoding	Benign/Likely_benign
9	21968347	T	C	T21968347C	CDKN2A	NM_000077.4(CDKN2A):c.458-105A>G	noncoding	Pathogenic/Likely_pathogenic
9	21968733	G	A	G21968733A	CDKN2A	NM_000077.4(CDKN2A):c.458-491C>T	coding	Benign
9	21970902	C	A	C21970902A	CDKN2A	NM_000077.4(CDKN2A):c.457G>T:p.Asp153Tyr	coding	Pathogenic/Likely_pathogenic
9	21970917	C	T	C21970917T	CDKN2A	NM_000077.4(CDKN2A):c.442G>A:p.Ala148Thr	coding	Benign
9	21970929	G	A	G21970929A	CDKN2A	NM_000077.4(CDKN2A):c.430C>T:p.Arg144Cys	coding	Benign/Likely_benign
9	21970954	C	T	C21970954T	CDKN2A	NM_000077.4(CDKN2A):c.405G>A:p.Gly135=	coding	Benign/Likely_benign
9	21970975	C	T	C21970975T	CDKN2A	NM_000077.4(CDKN2A):c.384G>A:p.Arg128=	coding	Benign/Likely_benign
9	21970980	C	A	C21970980A	CDKN2A	NM_000077.4(CDKN2A):c.379G>T:p.Ala127Ser	coding	Benign/Likely_benign
9	21970982	A	T	A21970982T	CDKN2A	NM_000077.4(CDKN2A):c.377T>A:p.Val126Asp	coding	Pathogenic
9	21971025	G	C	G21971025C	CDKN2A	NM_000077.4(CDKN2A):c.334C>G:p.Arg112Gly	coding	Pathogenic/Likely_pathogenic
9	21971029	C	T	C21971029T	CDKN2A	NM_000077.5(CDKN2A):c.330G>A	coding	Pathogenic/Likely_pathogenic
9	21971030	C	T	C21971030T	CDKN2A	NM_000077.4(CDKN2A):c.329G>A:p.Trp110Ter	coding	Pathogenic
9	21971097	C	A	C21971097A	CDKN2A	NM_000077.4(CDKN2A):c.262G>T:p.Glu88Ter	coding	Pathogenic
9	21971099	C	G	C21971099G	CDKN2A	NM_000077.4(CDKN2A):c.260G>C:p.Arg87Pro	coding	Pathogenic
9	21971121	G	A	G21971121A	CDKN2A	NM_000077.5(CDKN2A):c.238C>T	coding	Pathogenic
9	21971183	A	C	A21971183C	CDKN2A	NM_000077.4(CDKN2A):c.176T>G:p.Val59Gly	coding	Pathogenic/Likely_pathogenic
9	21971185	T	G	T21971185G	CDKN2A	NM_000077.4(CDKN2A):c.174A>C:p.Arg58=	coding	Benign/Likely_benign
9	21971187	G	A	G21971187A	CDKN2A	NM_000077.4(CDKN2A):c.172C>T:p.Arg58Ter	coding	Pathogenic
9	21971192	C	A	C21971192A	CDKN2A	NM_000077.4(CDKN2A):c.167G>T:p.Ser56Ile	coding	Pathogenic/Likely_pathogenic
9	21971200	C	G	C21971200G	CDKN2A	NM_000077.4(CDKN2A):c.159G>C:p.Met53Ile	coding	Pathogenic
9	21971200	C	T	C21971200T	CDKN2A	NM_000077.4(CDKN2A):c.159G>A:p.Met53Ile	coding	Pathogenic/Likely_pathogenic
9	21971209	C	A	C21971209A	CDKN2A	NM_000077.4(CDKN2A):c.151-1G>T	coding	Pathogenic
9	21971209	C	G	C21971209G	CDKN2A	NM_000077.4(CDKN2A):c.151-1G>C	coding	Pathogenic
9	21971222	C	T	C21971222T	CDKN2A	NM_000077.4(CDKN2A):c.151-14G>A	noncoding	Benign/Likely_benign
9	21972446	C	T	C21972446T	CDKN2A	NM_000077.4(CDKN2A):c.151-1238G>A	noncoding	Benign
9	21973423	G	T	G21973423T	CDKN2A	NM_000077.4(CDKN2A):c.150+1255C>A	noncoding	Benign
9	21974680	G	A	G21974680A	CDKN2A	NM_000077.4(CDKN2A):c.148C>T:p.Gln50Ter	coding	Pathogenic
9	21974686	G	T	G21974686T	CDKN2A	NM_000077.4(CDKN2A):c.142C>A:p.Pro48Thr	coding	Pathogenic/Likely_pathogenic
9	21974696	G	C	G21974696C	CDKN2A	NM_000077.4(CDKN2A):c.132C>G:p.Tyr44Ter	coding	Pathogenic
9	21974696	G	T	G21974696T	CDKN2A	NM_000077.4(CDKN2A):c.132C>A:p.Tyr44Ter	coding	Pathogenic
9	21974733	A	G	A21974733G	CDKN2A	NM_000077.4(CDKN2A):c.95T>C:p.Leu32Pro	coding	Pathogenic/Likely_pathogenic
9	21974749	C	A	C21974749A	CDKN2A	NM_000077.4(CDKN2A):c.79G>T:p.Glu27Ter	coding	Pathogenic
9	21974757	C	G	C21974757G	CDKN2A	NM_000077.4(CDKN2A):c.71G>C:p.Arg24Pro	coding	Pathogenic/Likely_pathogenic
9	21974759	A	C	A21974759C	CDKN2A	NM_000077.4(CDKN2A):c.69T>G:p.Gly23=	coding	Benign
9	21974777	G	T	G21974777T	CDKN2A	NM_000077.4(CDKN2A):c.51C>A:p.Ala17=	coding	Benign/Likely_benign
9	21974781	A	C	A21974781C	CDKN2A	NM_000077.4(CDKN2A):c.47T>G:p.Leu16Arg	coding	Pathogenic/Likely_pathogenic
9	21974781	A	G	A21974781G	CDKN2A	NM_000077.4(CDKN2A):c.47T>C:p.Leu16Pro	coding	Pathogenic
9	21974783	C	T	C21974783T	CDKN2A	NM_000077.4(CDKN2A):c.45G>A:p.Trp15Ter	coding	Pathogenic
9	21974784	C	T	C21974784T	CDKN2A	NM_000077.4(CDKN2A):c.44G>A:p.Trp15Ter	coding	Pathogenic
9	21974793	G	T	G21974793T	CDKN2A	NM_000077.4(CDKN2A):c.35C>A:p.Ser12Ter	coding	Pathogenic
9	21974829	C	T	C21974829T	CDKN2A	NM_000077.4(CDKN2A):c.-2G>A	coding	Benign/Likely_benign
9	21974852	G	A	G21974852A	CDKN2A	NM_000077.4(CDKN2A):c.-25C>T	coding	Benign/Likely_benign
9	21974861	C	A	C21974861A	CDKN2A	NM_000077.4(CDKN2A):c.-34G>T	coding	Pathogenic
9	21994134	C	T	C21994134T	CDKN2A	NM_058195.3(CDKN2A):c.193+5G>A	noncoding	Pathogenic/Likely_pathogenic
9	21994138	C	T	C21994138T	CDKN2A	NM_000077.4(CDKN2A):c.-19311G>A	noncoding	Pathogenic
9	21994230	C	T	C21994230T	CDKN2A	NM_001363763.2(CDKN2A):c.-4+591G>A	coding	Pathogenic
9	21994235	C	A	C21994235A	CDKN2A	NM_058195.3(CDKN2A):c.97G>T:p.Glu33Ter	coding	Pathogenic
9	21994263	G	A	G21994263A	CDKN2A	NM_058195.4(CDKN2A):c.69C>T:p.Phe23=	coding	Benign/Likely_benign
9	22447184	G	C	G22447184C	DMRTA1	NM_022160.3(DMRTA1):c.119G>C:p.Gly40Ala	coding	Benign
9	22451800	A	G	A22451800G	DMRTA1	NM_022160.3(DMRTA1):c.1404A>G:p.Pro468=	coding	Benign
9	26905645	G	A	G26905645A	PLAA	NM_001031689.3(PLAA):c.2254C>T:p.Leu752Phe	coding	Pathogenic
9	26920375	T	A	T26920375A	PLAA	NM_001031689.3(PLAA):c.1049A>T:p.Glu350Val	coding	Pathogenic
9	26923260	G	A	G26923260A	PLAA	NM_001031689.3(PLAA):c.957C>T:p.His319=	coding	Benign
9	26925865	A	G	A26925865G	PLAA	NM_001031689.3(PLAA):c.829T>C:p.Cys277Arg	coding	Pathogenic
9	26946926	G	C	G26946926C	PLAA	NM_001031689.3(PLAA):c.120C>G:p.Asp40Glu	coding	Pathogenic
9	26946978	C	A	C26946978A	PLAA	NM_001031689.3(PLAA):c.68G>T:p.Gly23Val	coding	Pathogenic
9	26980568	T	C	T26980568C	IFT74	NM_025103.4(IFT74):c.257-3T>C	noncoding	Benign
9	26984311	A	G	A26984311G	IFT74	NM_025103.4(IFT74):c.360A>G:p.Glu120=	coding	Benign
9	26984326	G	A	G26984326A	IFT74	NM_025103.4(IFT74):c.375G>A:p.Glu125=	coding	Benign
9	26984496	C	T	C26984496T	IFT74	NM_025103.4(IFT74):c.405-3C>T	noncoding	Benign
9	26990178	A	C	A26990178C	IFT74	NM_025103.4(IFT74):c.570A>C:p.Ile190=	coding	Benign
9	27029107	A	T	A27029107T	IFT74	NM_025103.4(IFT74):c.1054+3A>T	noncoding	Benign
9	27062617	G	T	G27062617T	IFT74	NM_025103.4(IFT74):c.1685-1G>T	noncoding	Pathogenic
9	27062668	G	A	G27062668A	IFT74	NM_025103.4(IFT74):c.1735G>A:p.Val579Met	coding	Benign
9	27109570	G	A	G27109570A	TEK	NM_000459.4(TEK):c.-21G>A	noncoding	Benign
9	27109602	A	C	A27109602C	TEK	NM_000459.5(TEK):c.12A>C:p.Leu4Phe	coding	Benign
9	27157916	C	T	C27157916T	TEK	NM_000459.4(TEK):c.138C>T:p.Ala46=	coding	Benign
9	27158012	G	A	G27158012A	TEK	NM_000459.4(TEK):c.234G>A:p.Val78=	coding	Benign
9	27158087	A	C	A27158087C	TEK	NM_000459.4(TEK):c.309A>C:p.Glu103Asp	coding	Benign
9	27168573	T	C	T27168573C	TEK	NM_000459.4(TEK):c.443T>C:p.Ile148Thr	coding	Benign
9	27168578	G	T	G27168578T	TEK	NM_000459.4(TEK):c.448G>T:p.Glu150Ter	coding	Pathogenic
9	27172664	C	T	C27172664T	TEK	NM_000459.4(TEK):c.677C>T:p.Ala226Val	coding	Benign
9	27172737	G	A	G27172737A	TEK	NM_000459.4(TEK):c.750G>A:p.Thr250=	coding	Benign
9	27173237	C	T	C27173237T	TEK	NM_000459.5(TEK):c.776C>T:p.Thr259Met	coding	Benign
9	27173343	G	C	G27173343C	TEK	NM_000459.5(TEK):c.882G>C:p.Lys294Asn	coding	Benign
9	27180230	C	T	C27180230T	TEK	NM_000459.4(TEK):c.902-10C>T	noncoding	Benign
9	27180259	C	A	C27180259A	TEK	NM_001290077.1(TEK):c.902-3200C>A	coding	Pathogenic
9	27183574	A	G	A27183574G	TEK	NM_000459.5(TEK):c.1146A>G:p.Glu382=	coding	Benign
9	27183600	C	T	C27183600T	TEK	NM_000459.4(TEK):c.1172C>T:p.Thr391Ile	coding	Benign
9	27185501	A	G	A27185501G	TEK	NM_000459.5(TEK):c.1199A>G:p.His400Arg	coding	Benign
9	27185615	A	G	A27185615G	TEK	NM_000459.4(TEK):c.1313A>G:p.Asn438Ser	coding	Benign/Likely_benign
9	27190547	A	G	A27190547G	TEK	NM_000459.4(TEK):c.1346A>G:p.Asn449Ser	coding	Benign/Likely_benign
9	27190588	A	G	A27190588G	TEK	NM_000459.4(TEK):c.1387A>G:p.Ile463Val	coding	Benign
9	27190591	A	C	A27190591C	TEK	NM_000459.4(TEK):c.1390A>C:p.Asn464His	coding	Benign
9	27190657	G	A	G27190657A	TEK	NM_000459.4(TEK):c.1456G>A:p.Val486Ile	coding	Benign
9	27192506	A	G	A27192506G	TEK	NM_000459.5(TEK):c.1507A>G:p.Thr503Ala	coding	Benign
9	27192564	G	T	G27192564T	TEK	NM_000459.4(TEK):c.1565G>T:p.Arg522Leu	coding	Benign
9	27197370	T	C	T27197370C	TEK	NM_000459.4(TEK):c.1680T>C:p.Asn560=	coding	Benign
9	27197424	G	A	G27197424A	TEK	NM_000459.4(TEK):c.1734G>A:p.Val578=	coding	Benign
9	27197488	G	T	G27197488T	TEK	NM_000459.4(TEK):c.1798G>T:p.Val600Leu	coding	Benign
9	27197559	G	A	G27197559A	TEK	NM_000459.4(TEK):c.1869G>A:p.Gly623=	coding	Benign
9	27197590	C	T	C27197590T	TEK	NM_000459.4(TEK):c.1900C>T:p.Leu634Phe	coding	Benign/Likely_benign
9	27202872	A	G	A27202872G	TEK	NM_000459.4(TEK):c.1962A>G:p.Ser654=	coding	Benign
9	27202962	C	T	C27202962T	TEK	NM_000459.4(TEK):c.2052C>T:p.His684=	coding	Benign
9	27203004	G	A	G27203004A	TEK	NM_000459.4(TEK):c.2094G>A:p.Gln698=	coding	Benign
9	27203080	G	A	G27203080A	TEK	NM_000459.4(TEK):c.2170G>A:p.Ala724Thr	coding	Benign
9	27203136	A	G	A27203136G	TEK	NM_000459.4(TEK):c.2209+17A>G	noncoding	Benign
9	27205023	G	A	G27205023A	TEK	NM_000459.4(TEK):c.2322G>A:p.Arg774=	coding	Benign
9	27206671	G	C	G27206671C	TEK	NM_000459.4(TEK):c.2454G>C:p.Val818=	coding	Benign
9	27206762	C	T	C27206762T	TEK	NM_000459.4(TEK):c.2545C>T:p.Arg849Trp	coding	Pathogenic
9	27206763	G	A	G27206763A	TEK	NM_000459.5(TEK):c.2546G>A:p.Arg849Gln	coding	Benign
9	27212710	A	C	A27212710C	TEK	NM_000459.4(TEK):c.2690A>C:p.Tyr897Ser	coding	Pathogenic
9	27212710	A	G	A27212710G	TEK	NM_000459.4(TEK):c.2690A>G:p.Tyr897Cys	coding	Pathogenic
9	27212764	G	A	G27212764A	TEK	NM_000459.4(TEK):c.2744G>A:p.Arg915His	coding	Pathogenic
9	27212858	C	T	C27212858T	TEK	NM_000459.4(TEK):c.2838C>T:p.Ala946=	coding	Benign
9	27212905	C	T	C27212905T	TEK	NM_000459.4(TEK):c.2877+8C>T	noncoding	Benign
9	27213582	T	C	T27213582C	TEK	NM_000459.4(TEK):c.2976T>C:p.Tyr992=	coding	Benign
9	27218804	G	A	G27218804A	TEK	NM_000459.4(TEK):c.3090G>A:p.Glu1030=	coding	Benign
9	27220034	C	G	C27220034G	TEK	NM_000459.4(TEK):c.3104-15C>G	noncoding	Benign
9	27220068	G	A	G27220068A	TEK	NM_000459.4(TEK):c.3123G>A:p.Gly1041=	coding	Benign
9	27220096	C	T	C27220096T	TEK	NM_000459.4(TEK):c.3151C>T:p.Leu1051=	coding	Benign
9	27220098	G	C	G27220098C	TEK	NM_000459.4(TEK):c.3153G>C:p.Leu1051=	coding	Benign
9	27220157	C	G	C27220157G	TEK	NM_000459.4(TEK):c.3200+12C>G	noncoding	Benign
9	27228202	G	A	G27228202A	TEK	NM_000459.4(TEK):c.3201-4G>A	noncoding	Benign
9	27229143	T	C	T27229143C	TEK	NM_000459.4(TEK):c.3301-15T>C	noncoding	Benign
9	27229166	G	A	G27229166A	TEK	NM_000459.5(TEK):c.3309G>A:p.Val1103=	coding	Benign
9	27229172	C	T	C27229172T	TEK	NM_000459.4(TEK):c.3315C>T:p.Thr1105=	coding	Benign
9	27229175	G	C	G27229175C	TEK	NM_000459.4(TEK):c.3318G>C:p.Thr1106=	coding	Benign
9	27229226	G	A	G27229226A	TEK	NM_000459.4(TEK):c.3369G>A:p.Ala1123=	coding	Benign
9	27229284	T	A	T27229284A	TEK	NM_000459.4(TEK):c.*52T>A	noncoding	Benign
9	27229438	A	C	A27229438C	TEK	NM_000459.4(TEK):c.*206A>C	noncoding	Benign
9	27229546	C	G	C27229546G	TEK	NM_000459.4(TEK):c.*314C>G	noncoding	Benign
9	27229613	C	G	C27229613G	TEK	NM_000459.4(TEK):c.*381C>G	noncoding	Benign
9	27229716	C	G	C27229716G	TEK	NM_000459.4(TEK):c.*484C>G	noncoding	Benign
9	27229768	C	T	C27229768T	TEK	NM_000459.4(TEK):c.*536C>T	noncoding	Benign
9	27229787	C	T	C27229787T	TEK	NM_000459.4(TEK):c.*555C>T	noncoding	Benign
9	27229788	G	A	G27229788A	TEK	NM_000459.4(TEK):c.*556G>A	noncoding	Benign
9	27229788	G	C	G27229788C	TEK	NM_000459.4(TEK):c.*556G>C	noncoding	Benign
9	27229811	T	C	T27229811C	TEK	NM_000459.4(TEK):c.*579T>C	noncoding	Benign
9	27229949	T	A	T27229949A	TEK	NM_000459.4(TEK):c.*717T>A	noncoding	Benign
9	27230154	G	A	G27230154A	TEK	NM_000459.4(TEK):c.*922G>A	noncoding	Benign
9	27546767	A	T	A27546767T	C9orf72	NM_018325.5(C9orf72):c.*1469T>A	noncoding	Benign
9	27546830	A	G	A27546830G	C9orf72	NM_018325.5(C9orf72):c.*1406T>C	noncoding	Benign
9	27546892	G	A	G27546892A	C9orf72	NM_018325.5(C9orf72):c.*1344C>T	noncoding	Benign
9	27547178	C	A	C27547178A	C9orf72	NM_018325.5(C9orf72):c.*1058G>T	noncoding	Benign
9	27547212	T	C	T27547212C	C9orf72	NM_018325.5(C9orf72):c.*1024A>G	noncoding	Benign
9	27547315	G	T	G27547315T	C9orf72	NM_018325.5(C9orf72):c.*921C>A	noncoding	Benign
9	27547322	T	C	T27547322C	C9orf72	NM_018325.5(C9orf72):c.*914A>G	noncoding	Benign
9	27547399	C	T	C27547399T	C9orf72	NM_018325.5(C9orf72):c.*837G>A	noncoding	Benign
9	27547585	C	A	C27547585A	C9orf72	NM_018325.5(C9orf72):c.*651G>T	noncoding	Benign
9	27547988	A	G	A27547988G	C9orf72	NM_018325.5(C9orf72):c.*248T>C	noncoding	Benign
9	27548062	G	A	G27548062A	C9orf72	NM_018325.5(C9orf72):c.*174C>T	noncoding	Benign
9	27548278	G	A	G27548278A	C9orf72	NM_018325.5(C9orf72):c.1404C>T:p.Phe468=	coding	Benign
9	27550641	A	G	A27550641G	C9orf72	NM_018325.5(C9orf72):c.1149+9T>C	noncoding	Benign
9	27556782	G	A	G27556782A	C9orf72	NM_018325.5(C9orf72):c.870C>T:p.Ser290=	coding	Benign
9	27560283	A	G	A27560283G	C9orf72	NM_018325.5(C9orf72):c.682T>C:p.Leu228=	coding	Benign
9	27561630	T	C	T27561630C	C9orf72	NM_018325.5(C9orf72):c.620A>G:p.Asn207Ser	coding	Benign
9	27562453	A	G	A27562453G	C9orf72	NM_018325.5(C9orf72):c.528T>C:p.Leu176=	coding	Benign
9	27565573	G	A	G27565573A	C9orf72	NM_018325.5(C9orf72):c.462C>T:p.Val154=	coding	Benign
9	27566833	T	C	T27566833C	C9orf72	NM_018325.5(C9orf72):c.288A>G:p.Ser96=	coding	Benign
9	27567147	C	T	C27567147T	C9orf72	NM_018325.5(C9orf72):c.-27G>A	noncoding	Benign
9	27573828	A	G	A27573828G	C9orf72	NM_001256054.2(C9orf72):c.-164T>C	noncoding	Benign
9	27949699	C	G	C27949699G	LINGO2	NM_152570.3(LINGO2):c.973G>C:p.Val325Leu	coding	Benign
9	32419135	C	T	C32419135T	ACO1	NM_002197.3(ACO1):c.756C>T:p.His252=	coding	Benign
9	32425978	G	A	G32425978A	ACO1	NM_002197.3(ACO1):c.1329G>A:p.Pro443=	coding	Benign
9	32430555	C	T	C32430555T	ACO1	NM_002197.3(ACO1):c.1707C>T:p.Asp569=	coding	Benign
9	32448907	C	T	C32448907T	ACO1	NM_002197.3(ACO1):c.2382C>T:p.Ala794=	coding	Benign
9	32457153	A	G	A32457153G	DDX58	NM_014314.4(DDX58):c.2747T>C:p.Ile916Thr	coding	Benign
9	32459521	C	T	C32459521T	DDX58	NM_014314.4(DDX58):c.2338-7G>A	noncoding	Benign
9	32466280	G	A	G32466280A	DDX58	NM_014314.4(DDX58):c.2337+10C>T	noncoding	Benign
9	32466310	C	T	C32466310T	DDX58	NM_014314.4(DDX58):c.2317G>A:p.Glu773Lys	coding	Benign/Likely_benign
9	32467867	G	A	G32467867A	DDX58	NM_014314.4(DDX58):c.2080C>T:p.Leu694=	coding	Benign
9	32480256	G	A	G32480256A	DDX58	NM_014314.4(DDX58):c.1737C>T:p.Phe579=	coding	Benign
9	32481341	C	T	C32481341T	DDX58	NM_014314.4(DDX58):c.1637G>A:p.Arg546Gln	coding	Benign
9	32481367	G	A	G32481367A	DDX58	NM_014314.4(DDX58):c.1611C>T:p.Ala537=	coding	Benign
9	32488039	T	G	T32488039G	DDX58	NM_014314.4(DDX58):c.1118A>C:p.Glu373Ala	coding	Pathogenic
9	32488098	G	A	G32488098A	DDX58	NM_014314.4(DDX58):c.1059C>T:p.Asn353=	coding	Benign
9	32488796	C	A	C32488796A	DDX58	NM_014314.4(DDX58):c.891G>T:p.Ala297=	coding	Benign
9	32488884	C	A	C32488884A	DDX58	NM_014314.4(DDX58):c.803G>T:p.Cys268Phe	coding	Pathogenic
9	32489409	T	C	T32489409C	DDX58	NM_014314.4(DDX58):c.734A>G:p.Asn245Ser	coding	Benign
9	32493769	T	G	T32493769G	DDX58	NM_014314.4(DDX58):c.415A>C:p.Ile139Leu	coding	Benign
9	32493890	T	C	T32493890C	DDX58	NM_014314.4(DDX58):c.294A>G:p.Glu98=	coding	Benign
9	32500834	C	T	C32500834T	DDX58	NM_014314.4(DDX58):c.212G>A:p.Arg71His	coding	Benign
9	32526158	G	A	G32526158A	DDX58	NM_014314.4(DDX58):c.9C>T:p.Thr3=	coding	Benign
9	32541378	T	C	T32541378C	TOPORS	NM_005802.5(TOPORS):c.*9A>G	noncoding	Benign
9	32541534	A	G	A32541534G	TOPORS	NM_005802.5(TOPORS):c.2991T>C:p.Asp997=	coding	Benign
9	32541537	G	A	G32541537A	TOPORS	NM_005802.5(TOPORS):c.2988C>T:p.Leu996=	coding	Benign
9	32541882	G	C	G32541882C	TOPORS	NM_005802.5(TOPORS):c.2643C>G:p.His881Gln	coding	Benign/Likely_benign
9	32541986	G	A	G32541986A	TOPORS	NM_005802.5(TOPORS):c.2539C>T:p.Arg847Ter	coding	Pathogenic
9	32542058	T	C	T32542058C	TOPORS	NM_005802.5(TOPORS):c.2467A>G:p.Ser823Gly	coding	Benign/Likely_benign
9	32542090	G	C	G32542090C	TOPORS	NM_005802.5(TOPORS):c.2435C>G:p.Pro812Arg	coding	Benign
9	32542103	C	A	C32542103A	TOPORS	NM_005802.5(TOPORS):c.2422G>T:p.Glu808Ter	coding	Pathogenic
9	32542206	A	G	A32542206G	TOPORS	NM_005802.5(TOPORS):c.2319T>C:p.Ser773=	coding	Benign
9	32542211	G	A	G32542211A	TOPORS	NM_005802.5(TOPORS):c.2314C>T:p.Leu772=	coding	Benign/Likely_benign
9	32542280	T	C	T32542280C	TOPORS	NM_005802.5(TOPORS):c.2245A>G:p.Asn749Asp	coding	Benign
9	32542365	G	A	G32542365A	TOPORS	NM_005802.5(TOPORS):c.2160C>T:p.Tyr720=	coding	Benign
9	32542795	G	T	G32542795T	TOPORS	NM_005802.5(TOPORS):c.1730C>A:p.Ser577Tyr	coding	Benign/Likely_benign
9	32542803	C	T	C32542803T	TOPORS	NM_005802.5(TOPORS):c.1722G>A:p.Leu574=	coding	Benign
9	32542965	T	C	T32542965C	TOPORS	NM_005802.5(TOPORS):c.1560A>G:p.Gln520=	coding	Benign/Likely_benign
9	32543160	C	T	C32543160T	TOPORS	NM_005802.5(TOPORS):c.1365G>A:p.Thr455=	coding	Benign
9	32543711	T	C	T32543711C	TOPORS	NM_005802.5(TOPORS):c.814A>G:p.Ile272Val	coding	Benign/Likely_benign
9	32543949	C	A	C32543949A	TOPORS	NM_005802.5(TOPORS):c.576G>T:p.Val192=	coding	Benign
9	32550898	G	C	G32550898C	TOPORS	NM_005802.5(TOPORS):c.74C>G:p.Ser25Trp	coding	Benign/Likely_benign
9	32550914	G	A	G32550914A	TOPORS	NM_005802.5(TOPORS):c.58C>T:p.Pro20Ser	coding	Benign
9	32552464	C	G	C32552464G	TOPORS	NM_005802.5(TOPORS):c.-28G>C	noncoding	Benign
9	32972742	C	T	C32972742T	APTX	NM_001195248.2(APTX):c.*756G>A	noncoding	Benign
9	32973044	C	G	C32973044G	APTX	NM_001195248.2(APTX):c.*454G>C	noncoding	Benign/Likely_benign
9	32973357	C	T	C32973357T	APTX	NM_001195248.2(APTX):c.*141G>A	noncoding	Benign
9	32973653	C	T	C32973653T	APTX	NM_001195248.2(APTX):c.875-1G>A	coding	Pathogenic
9	32973654	T	C	T32973654C	APTX	NM_001195248.2(APTX):c.875-2A>G	coding	Pathogenic
9	32974495	C	T	C32974495T	APTX	NM_001195248.2(APTX):c.837G>A:p.Trp279Ter	coding	Pathogenic
9	32974544	A	C	A32974544C	APTX	NM_001195248.2(APTX):c.788T>G:p.Val263Gly	coding	Pathogenic
9	32984704	T	A	T32984704A	APTX	NM_001195248.2(APTX):c.697A>T:p.Lys233Ter	coding	Pathogenic
9	32984733	A	G	A32984733G	APTX	NM_001195248.2(APTX):c.668T>C:p.Leu223Pro	coding	Pathogenic
9	32984734	G	A	G32984734A	APTX	NM_001195248.2(APTX):c.667C>T:p.Leu223Phe	coding	Pathogenic
9	32984784	G	A	G32984784A	APTX	NM_001195248.2(APTX):c.617C>T:p.Pro206Leu	coding	Pathogenic
9	32984799	T	C	T32984799C	APTX	NM_001195248.2(APTX):c.602A>G:p.His201Arg	coding	Pathogenic
9	32984805	C	T	C32984805T	APTX	NM_001195248.2(APTX):c.596G>A:p.Arg199His	coding	Benign/Likely_benign
9	32984842	G	A	G32984842A	APTX	NM_001195248.2(APTX):c.559C>T:p.Gln187Ter	coding	Pathogenic
9	32986031	C	A	C32986031A	APTX	NM_001195248.2(APTX):c.484-1G>T	coding	Pathogenic
9	32986042	A	C	A32986042C	APTX	NM_001195248.2(APTX):c.484-12T>G	noncoding	Benign/Likely_benign
9	32986043	C	A	C32986043A	APTX	NM_001195248.2(APTX):c.484-13G>T	noncoding	Benign
9	32987596	G	T	G32987596T	APTX	NM_001195248.2(APTX):c.431C>A:p.Ser144Tyr	coding	Benign/Likely_benign
9	32987709	G	A	G32987709A	APTX	NM_001195248.2(APTX):c.318C>T:p.Asn106=	coding	Benign
9	32997253	T	A	T32997253A	APTX	NM_001195248.2(APTX):c.-5+4314A>T	coding	Benign
9	33001551	C	A	C33001551A	APTX	NM_001195248.2(APTX):c.-5+16G>T	coding	Benign
9	33001650	G	C	G33001650C	APTX	NM_175073.2(APTX):c.-194C>G	noncoding	Benign
9	33113788	T	C	T33113788C	B4GALT1	NM_001497.3(B4GALT1):c.1050A>G:p.Glu350=	coding	Benign
9	33120485	T	C	T33120485C	B4GALT1	NM_001497.3(B4GALT1):c.770A>G:p.His257Arg	coding	Benign
9	33135087	G	A	G33135087A	B4GALT1	NM_001497.3(B4GALT1):c.648+102C>T	noncoding	Benign
9	33135240	G	A	G33135240A	B4GALT1	NM_001497.3(B4GALT1):c.597C>T:p.His199=	coding	Benign
9	33166747	C	A	C33166747A	B4GALT1	NM_001497.3(B4GALT1):c.412+11G>T	noncoding	Benign
9	33255903	T	C	T33255903C	BAG1	NM_004323.6(BAG1):c.910A>G:p.Ser304Gly	coding	Benign
9	33385692	G	T	G33385692T	AQP7	NM_001170.3(AQP7):c.700C>A:p.Arg234Ser	coding	Benign
9	33385742	A	T	A33385742T	AQP7	NM_001170.3(AQP7):c.650T>A:p.Leu217His	coding	Benign
9	33385752	C	T	C33385752T	AQP7	NM_001170.3(AQP7):c.640G>A:p.Gly214Arg	coding	Benign
9	33385773	C	T	C33385773T	AQP7	NM_001170.3(AQP7):c.619G>A:p.Gly207Ser	coding	Benign
9	33386402	A	G	A33386402G	AQP7	NM_001170.3(AQP7):c.406+2T>C	noncoding	Benign
9	33386467	A	G	A33386467G	AQP7	NM_001170.3(AQP7):c.343T>C:p.Tyr115His	coding	Benign
9	33443869	G	A	G33443869A	AQP3	NM_004925.5(AQP3):c.132C>T:p.Ala44=	coding	Benign
9	33926670	T	C	T33926670C	UBAP2	NM_001370062.2(UBAP2):c.2464-6A>G	noncoding	Benign
9	33927882	C	G	C33927882G	UBAP2	NM_001370062.2(UBAP2):c.2286G>C:p.Met762Ile	coding	Benign
9	33933599	G	T	G33933599T	UBAP2	NM_001370062.2(UBAP2):c.1999C>A:p.Leu667Ile	coding	Benign
9	34241341	A	T	A34241341T	UBAP1	NM_016525.5(UBAP1):c.316A>T:p.Lys106Ter	coding	Pathogenic
9	34241398	C	T	C34241398T	UBAP1	NM_016525.5(UBAP1):c.373C>T:p.Gln125Ter	coding	Pathogenic
9	34241551	G	T	G34241551T	UBAP1	NM_016525.5(UBAP1):c.526G>T:p.Glu176Ter	coding	Pathogenic
9	34241560	G	T	G34241560T	UBAP1	NM_016525.5(UBAP1):c.535G>T:p.Glu179Ter	coding	Pathogenic
9	34255065	T	C	T34255065C	KIF24	NM_194313.4(KIF24):c.3966+7A>G	noncoding	Benign
9	34255825	C	G	C34255825G	KIF24	NM_194313.4(KIF24):c.3782G>C:p.Arg1261Thr	coding	Benign
9	34256467	C	A	C34256467A	KIF24	NM_194313.4(KIF24):c.3140G>T:p.Gly1047Val	coding	Benign
9	34256586	A	T	A34256586T	KIF24	NM_194313.4(KIF24):c.3021T>A:p.Pro1007=	coding	Benign
9	34256889	G	A	G34256889A	KIF24	NM_194313.4(KIF24):c.2718C>T:p.Leu906=	coding	Benign
9	34257225	C	T	C34257225T	KIF24	NM_194313.4(KIF24):c.2382G>A:p.Arg794=	coding	Benign
9	34306310	T	C	T34306310C	KIF24	NM_194313.4(KIF24):c.755A>G:p.Glu252Gly	coding	Benign
9	34311196	G	A	G34311196A	KIF24	NM_194313.4(KIF24):c.151C>T:p.Arg51Cys	coding	Benign
9	34372044	G	T	G34372044T	MYORG	NM_020702.5(MYORG):c.900C>A:p.Tyr300Ter	coding	Pathogenic
9	34372719	C	T	C34372719T	MYORG	NM_020702.5(MYORG):c.225G>A:p.Trp75Ter	coding	Pathogenic
9	34459027	G	T	G34459027T	DNAI1	NM_012144.4(DNAI1):c.22G>T:p.Ala8Ser	coding	Benign/Likely_benign
9	34485239	C	T	C34485239T	DNAI1	NM_012144.4(DNAI1):c.179C>T:p.Ala60Val	coding	Benign/Likely_benign
9	34489439	A	G	A34489439G	DNAI1	NM_012144.4(DNAI1):c.378A>G:p.Glu126=	coding	Benign/Likely_benign
9	34490411	C	T	C34490411T	DNAI1	NM_012144.4(DNAI1):c.544C>T:p.Gln182Ter	coding	Pathogenic
9	34491498	C	T	C34491498T	DNAI1	NM_012144.4(DNAI1):c.625C>T:p.Arg209Ter	coding	Pathogenic
9	34491512	G	A	G34491512A	DNAI1	NM_012144.4(DNAI1):c.639G>A:p.Thr213=	coding	Benign/Likely_benign
9	34497160	C	T	C34497160T	DNAI1	NM_012144.4(DNAI1):c.862C>T:p.Arg288Trp	coding	Benign/Likely_benign
9	34500732	C	G	C34500732G	DNAI1	NM_012144.4(DNAI1):c.912C>G:p.Tyr304Ter	coding	Pathogenic
9	34500798	A	C	A34500798C	DNAI1	NM_012144.4(DNAI1):c.978A>C:p.Gln326His	coding	Benign/Likely_benign
9	34500823	G	A	G34500823A	DNAI1	NM_012144.4(DNAI1):c.1003G>A:p.Val335Ile	coding	Benign/Likely_benign
9	34500881	C	T	C34500881T	DNAI1	NM_012144.4(DNAI1):c.1019+42C>T	noncoding	Benign
9	34506775	T	G	T34506775G	DNAI1	NM_012144.4(DNAI1):c.1212T>G:p.Tyr404Ter	coding	Pathogenic/Likely_pathogenic
9	34506870	G	A	G34506870A	DNAI1	NM_012144.4(DNAI1):c.1307G>A:p.Trp436Ter	coding	Pathogenic
9	34512215	G	A	G34512215A	DNAI1	NM_012144.4(DNAI1):c.1401+17G>A	noncoding	Benign
9	34512395	T	G	T34512395G	DNAI1	NM_012144.4(DNAI1):c.1460T>G:p.Val487Gly	coding	Benign/Likely_benign
9	34513165	G	A	G34513165A	DNAI1	NM_012144.4(DNAI1):c.1543G>A:p.Gly515Ser	coding	Pathogenic/Likely_pathogenic
9	34513192	G	T	G34513192T	DNAI1	NM_012144.4(DNAI1):c.1569+1G>T	coding	Pathogenic
9	34514428	C	A	C34514428A	DNAI1	NM_012144.4(DNAI1):c.1604C>A:p.Thr535Asn	coding	Benign/Likely_benign
9	34514436	G	A	G34514436A	DNAI1	NM_012144.4(DNAI1):c.1612G>A:p.Ala538Thr	coding	Pathogenic
9	34514468	G	A	G34514468A	DNAI1	NM_012144.4(DNAI1):c.1644G>A:p.Trp548Ter	coding	Pathogenic/Likely_pathogenic
9	34517344	G	A	G34517344A	DNAI1	NM_012144.4(DNAI1):c.1878G>A:p.Ala626=	coding	Benign
9	34517368	C	T	C34517368T	DNAI1	NM_012144.4(DNAI1):c.1902C>T:p.His634=	coding	Benign/Likely_benign
9	34517389	C	T	C34517389T	DNAI1	NM_012144.4(DNAI1):c.1923C>T:p.His641=	coding	Benign
9	34517468	G	A	G34517468A	DNAI1	NM_012144.4(DNAI1):c.2001+1G>A	coding	Pathogenic/Likely_pathogenic
9	34517486	T	A	T34517486A	DNAI1	NM_012144.4(DNAI1):c.2001+19T>A	noncoding	Benign
9	34635682	G	A	G34635682A	SIGMAR1	NM_005866.4(SIGMAR1):c.622C>T:p.Arg208Trp	coding	Benign
9	34635752	G	A	G34635752A	SIGMAR1	NM_005866.4(SIGMAR1):c.552C>T:p.Phe184=	coding	Benign
9	34637268	C	G	C34637268G	SIGMAR1	NM_005866.4(SIGMAR1):c.304G>C:p.Glu102Gln	coding	Pathogenic
9	34637332	C	T	C34637332T	SIGMAR1	NM_005866.4(SIGMAR1):c.240G>A:p.Gln80=	coding	Benign
9	34637334	G	A	G34637334A	SIGMAR1	NM_005866.4(SIGMAR1):c.238C>T:p.Gln80Ter	coding	Pathogenic
9	34637419	C	T	C34637419T	SIGMAR1	NM_005866.4(SIGMAR1):c.153G>A:p.Gly51=	coding	Benign
9	34637546	C	A	C34637546A	SIGMAR1	NM_005866.4(SIGMAR1):c.151+1G>T	noncoding	Pathogenic
9	34637692	C	T	C34637692T	SIGMAR1	NM_005866.4(SIGMAR1):c.6G>A:p.Gln2=	coding	Benign
9	34637693	T	G	T34637693G	SIGMAR1	NM_005866.4(SIGMAR1):c.5A>C:p.Gln2Pro	coding	Benign
9	34646705	A	G	A34646705G	GALT	NM_000155.4(GALT):c.1A>G:p.Met1Val	coding	Pathogenic
9	34646706	T	G	T34646706G	GALT	NM_000155.4(GALT):c.2T>G:p.Met1Arg	coding	Pathogenic
9	34646737	C	T	C34646737T	GALT	NM_000155.4(GALT):c.33C>T:p.Arg11=	coding	Benign
9	34646771	A	G	A34646771G	GALT	NM_000155.4(GALT):c.67A>G:p.Thr23Ala	coding	Pathogenic
9	34646786	G	C	G34646786C	GALT	NM_000155.4(GALT):c.82G>C:p.Asp28His	coding	Pathogenic
9	34646786	G	T	G34646786T	GALT	NM_000155.4(GALT):c.82G>T:p.Asp28Tyr	coding	Pathogenic
9	34647096	G	C	G34647096C	GALT	NM_000155.4(GALT):c.90G>C:p.Gln30His	coding	Pathogenic
9	34647101	T	A	T34647101A	GALT	NM_000155.4(GALT):c.95T>A:p.Ile32Asn	coding	Pathogenic
9	34647119	A	C	A34647119C	GALT	NM_000155.4(GALT):c.113A>C:p.Gln38Pro	coding	Pathogenic
9	34647123	T	C	T34647123C	GALT	NM_000155.4(GALT):c.117T>C:p.Asp39=	coding	Benign
9	34647124	G	A	G34647124A	GALT	NM_000155.4(GALT):c.118G>A:p.Glu40Lys	coding	Pathogenic
9	34647136	G	A	G34647136A	GALT	NM_000155.4(GALT):c.130G>A:p.Val44Met	coding	Pathogenic
9	34647136	G	T	G34647136T	GALT	NM_000155.4(GALT):c.130G>T:p.Val44Leu	coding	Pathogenic
9	34647140	C	A	C34647140A	GALT	NM_000155.4(GALT):c.134C>A:p.Ser45Ter	coding	Pathogenic
9	34647158	G	T	G34647158T	GALT	NM_000155.4(GALT):c.152G>T:p.Arg51Leu	coding	Pathogenic
9	34647166	C	T	C34647166T	GALT	NM_000155.4(GALT):c.160C>T:p.Gln54Ter	coding	Pathogenic
9	34647169	G	T	G34647169T	GALT	NM_000155.4(GALT):c.163G>T:p.Gly55Cys	coding	Pathogenic
9	34647190	C	A	C34647190A	GALT	NM_000155.4(GALT):c.184C>A:p.Leu62Met	coding	Benign
9	34647203	C	A	C34647203A	GALT	NM_000155.4(GALT):c.197C>A:p.Pro66His	coding	Pathogenic
9	34647205	C	T	C34647205T	GALT	NM_000155.4(GALT):c.199C>T:p.Arg67Cys	coding	Pathogenic
9	34647227	T	C	T34647227C	GALT	NM_000155.4(GALT):c.221T>C:p.Leu74Pro	coding	Pathogenic/Likely_pathogenic
9	34647259	G	A	G34647259A	GALT	NM_000155.4(GALT):c.252+1G>A	coding	Pathogenic
9	34647490	A	G	A34647490G	GALT	NM_000155.4(GALT):c.253-2A>G	noncoding	Pathogenic
9	34647504	T	C	T34647504C	GALT	NM_000155.4(GALT):c.265T>C:p.Tyr89His	coding	Pathogenic
9	34647504	T	G	T34647504G	GALT	NM_000155.4(GALT):c.265T>G:p.Tyr89Asp	coding	Pathogenic
9	34647524	T	G	T34647524G	GALT	NM_000155.4(GALT):c.285T>G:p.Phe95Leu	coding	Pathogenic
9	34647529	A	G	A34647529G	GALT	NM_000155.4(GALT):c.290A>G:p.Asn97Ser	coding	Pathogenic/Likely_pathogenic
9	34647531	G	A	G34647531A	GALT	NM_000155.4(GALT):c.292G>A:p.Asp98Asn	coding	Pathogenic/Likely_pathogenic
9	34647546	C	T	C34647546T	GALT	NM_000155.4(GALT):c.307C>T:p.Gln103Ter	coding	Pathogenic
9	34647547	A	G	A34647547G	GALT	NM_000155.4(GALT):c.308A>G:p.Gln103Arg	coding	Pathogenic
9	34647569	T	C	T34647569C	GALT	NM_000155.4(GALT):c.328+2T>C	noncoding	Pathogenic
9	34647596	G	C	G34647596C	GALT	NM_000155.4(GALT):c.328+29G>C	noncoding	Benign
9	34647655	A	C	A34647655C	GALT	NM_000155.4(GALT):c.329-2A>C	noncoding	Pathogenic
9	34647658	A	T	A34647658T	GALT	NM_000155.4(GALT):c.330A>T:p.Gly110=	coding	Benign
9	34647664	T	C	T34647664C	GALT	NM_000155.4(GALT):c.336T>C:p.Ser112=	coding	Pathogenic
9	34647665	G	A	G34647665A	GALT	NM_000155.4(GALT):c.337G>A:p.Asp113Asn	coding	Pathogenic
9	34647669	A	T	A34647669T	GALT	NM_000155.4(GALT):c.341A>T:p.His114Leu	coding	Pathogenic
9	34647678	T	C	T34647678C	GALT	NM_000155.4(GALT):c.350T>C:p.Phe117Ser	coding	Pathogenic
9	34647682	A	C	A34647682C	GALT	NM_000155.4(GALT):c.354A>C:p.Gln118His	coding	Pathogenic
9	34647695	C	T	C34647695T	GALT	NM_000155.4(GALT):c.367C>T:p.Arg123Ter	coding	Pathogenic
9	34647696	G	A	G34647696A	GALT	NM_000155.4(GALT):c.368G>A:p.Arg123Gln	coding	Pathogenic
9	34647702	T	C	T34647702C	GALT	NM_000155.4(GALT):c.374T>C:p.Val125Ala	coding	Pathogenic
9	34647706	G	T	G34647706T	GALT	NM_000155.4(GALT):c.377+1G>T	coding	Pathogenic
9	34647760	T	C	T34647760C	GALT	NM_000155.4(GALT):c.377+55T>C	noncoding	Benign
9	34647805	G	C	G34647805C	GALT	NM_000155.4(GALT):c.378-27G>C	noncoding	Benign
9	34647840	T	C	T34647840C	GALT	NM_000155.4(GALT):c.386T>C:p.Met129Thr	coding	Pathogenic
9	34647846	T	G	T34647846G	GALT	NM_000155.4(GALT):c.392T>G:p.Phe131Cys	coding	Pathogenic
9	34647850	C	A	C34647850A	GALT	NM_000155.4(GALT):c.396C>A:p.His132Gln	coding	Pathogenic/Likely_pathogenic
9	34647858	C	T	C34647858T	GALT	NM_000155.4(GALT):c.404C>T:p.Ser135Leu	coding	Pathogenic/Likely_pathogenic
9	34647867	C	T	C34647867T	GALT	NM_000155.4(GALT):c.413C>T:p.Thr138Met	coding	Pathogenic/Likely_pathogenic
9	34647868	G	T	G34647868T	GALT	NM_000155.4(GALT):c.414G>T:p.Thr138=	coding	Benign/Likely_benign
9	34647870	T	C	T34647870C	GALT	NM_000155.4(GALT):c.416T>C:p.Leu139Pro	coding	Pathogenic
9	34647878	A	G	A34647878G	GALT	NM_000155.4(GALT):c.424A>G:p.Met142Val	coding	Pathogenic
9	34647879	T	A	T34647879A	GALT	NM_000155.4(GALT):c.425T>A:p.Met142Lys	coding	Pathogenic
9	34647879	T	C	T34647879C	GALT	NM_000155.4(GALT):c.425T>C:p.Met142Thr	coding	Pathogenic
9	34647896	C	G	C34647896G	GALT	NM_000155.4(GALT):c.442C>G:p.Arg148Gly	coding	Pathogenic
9	34647896	C	T	C34647896T	GALT	NM_000155.4(GALT):c.442C>T:p.Arg148Trp	coding	Pathogenic
9	34647897	G	A	G34647897A	GALT	NM_000155.4(GALT):c.443G>A:p.Arg148Gln	coding	Pathogenic/Likely_pathogenic
9	34647902	G	C	G34647902C	GALT	NM_000155.4(GALT):c.448G>C:p.Val150Leu	coding	Pathogenic
9	34647914	T	C	T34647914C	GALT	NM_000155.4(GALT):c.460T>C:p.Trp154Arg	coding	Pathogenic
9	34647914	T	G	T34647914G	GALT	NM_000155.4(GALT):c.460T>G:p.Trp154Gly	coding	Pathogenic
9	34647916	G	A	G34647916A	GALT	NM_000155.4(GALT):c.462G>A:p.Trp154Ter	coding	Pathogenic
9	34647936	T	C	T34647936C	GALT	NM_000155.4(GALT):c.482T>C:p.Leu161Pro	coding	Pathogenic
9	34647944	C	T	C34647944T	GALT	NM_000155.4(GALT):c.490C>T:p.Gln164Ter	coding	Pathogenic
9	34647949	C	T	C34647949T	GALT	NM_000155.4(GALT):c.495C>T:p.Tyr165=	coding	Benign
9	34647953	T	C	T34647953C	GALT	NM_000155.4(GALT):c.499T>C:p.Trp167Arg	coding	Pathogenic
9	34647959	C	A	C34647959A	GALT	NM_000155.4(GALT):c.505C>A:p.Gln169Lys	coding	Pathogenic
9	34647963	T	C	T34647963C	GALT	NM_000155.4(GALT):c.507+2T>C	noncoding	Pathogenic
9	34648023	G	A	G34648023A	GALT	NM_000155.4(GALT):c.507+62G>A	noncoding	Benign
9	34648077	T	C	T34648077C	GALT	NM_000155.4(GALT):c.508-38T>C	noncoding	Benign
9	34648091	G	A	G34648091A	GALT	NM_000155.4(GALT):c.508-24G>A	noncoding	Benign
9	34648098	G	A	G34648098A	GALT	NM_000155.4(GALT):c.508-17G>A	noncoding	Benign
9	34648104	C	A	C34648104A	GALT	NM_000155.4(GALT):c.508-11C>A	noncoding	Benign
9	34648104	C	G	C34648104G	GALT	NM_000155.4(GALT):c.508-11C>G	noncoding	Benign
9	34648110	G	C	G34648110C	GALT	NM_000155.4(GALT):c.508-5G>C	noncoding	Pathogenic
9	34648114	G	C	G34648114C	GALT	NM_000155.4(GALT):c.508-1G>C	noncoding	Pathogenic/Likely_pathogenic
9	34648116	T	A	T34648116A	GALT	NM_000155.4(GALT):c.509T>A:p.Ile170Asn	coding	Pathogenic
9	34648116	T	C	T34648116C	GALT	NM_000155.4(GALT):c.509T>C:p.Ile170Thr	coding	Pathogenic
9	34648117	C	T	C34648117T	GALT	NM_000155.4(GALT):c.510C>T:p.Ile170=	coding	Benign
9	34648119	T	C	T34648119C	GALT	NM_000155.4(GALT):c.512T>C:p.Phe171Ser	coding	Pathogenic/Likely_pathogenic
9	34648131	G	A	G34648131A	GALT	NM_000155.4(GALT):c.524G>A:p.Gly175Asp	coding	Pathogenic
9	34648143	G	A	G34648143A	GALT	NM_000155.4(GALT):c.536G>A:p.Gly179Asp	coding	Pathogenic
9	34648146	G	T	G34648146T	GALT	NM_000155.4(GALT):c.539G>T:p.Cys180Phe	coding	Pathogenic
9	34648148	T	G	T34648148G	GALT	NM_000155.4(GALT):c.541T>G:p.Ser181Ala	coding	Pathogenic
9	34648149	C	T	C34648149T	GALT	NM_000155.4(GALT):c.542C>T:p.Ser181Phe	coding	Pathogenic
9	34648157	C	G	C34648157G	GALT	NM_000155.4(GALT):c.550C>G:p.His184Asp	coding	Pathogenic
9	34648160	C	T	C34648160T	GALT	NM_000155.4(GALT):c.553C>T:p.Pro185Ser	coding	Pathogenic
9	34648161	C	A	C34648161A	GALT	NM_000155.4(GALT):c.554C>A:p.Pro185His	coding	Pathogenic
9	34648169	C	T	C34648169T	GALT	NM_000155.4(GALT):c.562C>T:p.Gln188Ter	coding	Pathogenic
9	34648172	G	A	G34648172A	GALT	NM_000155.4(GALT):c.564+1G>A	coding	Pathogenic/Likely_pathogenic
9	34648203	T	A	T34648203A	GALT	NM_000155.4(GALT):c.564+32T>A	noncoding	Benign
9	34648343	A	G	A34648343G	GALT	NM_000155.4(GALT):c.574A>G:p.Ser192Gly	coding	Pathogenic
9	34648344	G	A	G34648344A	GALT	NM_000155.4(GALT):c.575G>A:p.Ser192Asn	coding	Pathogenic
9	34648349	T	C	T34648349C	GALT	NM_000155.4(GALT):c.580T>C:p.Phe194Leu	coding	Pathogenic
9	34648352	C	T	C34648352T	GALT	NM_000155.4(GALT):c.583C>T:p.Leu195=	coding	Benign
9	34648353	T	C	T34648353C	GALT	NM_000155.4(GALT):c.584T>C:p.Leu195Pro	coding	Pathogenic
9	34648363	T	G	T34648363G	GALT	NM_000155.4(GALT):c.594T>G:p.Ile198Met	coding	Pathogenic
9	34648364	G	A	G34648364A	GALT	NM_000155.4(GALT):c.595G>A:p.Ala199Thr	coding	Pathogenic
9	34648367	C	T	C34648367T	GALT	NM_000155.4(GALT):c.598C>T:p.Gln200Ter	coding	Pathogenic/Likely_pathogenic
9	34648370	C	T	C34648370T	GALT	NM_000155.4(GALT):c.601C>T:p.Arg201Cys	coding	Pathogenic
9	34648371	G	A	G34648371A	GALT	NM_000155.4(GALT):c.602G>A:p.Arg201His	coding	Pathogenic
9	34648379	C	T	C34648379T	GALT	NM_000155.4(GALT):c.610C>T:p.Arg204Ter	coding	Pathogenic/Likely_pathogenic
9	34648380	G	C	G34648380C	GALT	NM_000155.4(GALT):c.611G>C:p.Arg204Pro	coding	Pathogenic
9	34648385	C	T	C34648385T	GALT	NM_000155.4(GALT):c.616C>T:p.Gln206Ter	coding	Pathogenic
9	34648388	C	T	C34648388T	GALT	NM_000155.4(GALT):c.619C>T:p.Gln207Ter	coding	Pathogenic/Likely_pathogenic
9	34648395	A	C	A34648395C	GALT	NM_000155.4(GALT):c.626A>C:p.Tyr209Ser	coding	Pathogenic
9	34648395	A	G	A34648395G	GALT	NM_000155.4(GALT):c.626A>G:p.Tyr209Cys	coding	Pathogenic/Likely_pathogenic
9	34648403	C	T	C34648403T	GALT	NM_000155.4(GALT):c.634C>T:p.Gln212Ter	coding	Pathogenic/Likely_pathogenic
9	34648404	A	C	A34648404C	GALT	NM_000155.4(GALT):c.635A>C:p.Gln212Pro	coding	Pathogenic
9	34648419	T	C	T34648419C	GALT	NM_000155.4(GALT):c.650T>C:p.Leu217Pro	coding	Pathogenic
9	34648427	G	A	G34648427A	GALT	NM_000155.4(GALT):c.658G>A:p.Glu220Lys	coding	Pathogenic
9	34648436	C	A	C34648436A	GALT	NM_000155.4(GALT):c.667C>A:p.Arg223Ser	coding	Pathogenic
9	34648446	T	C	T34648446C	GALT	NM_000155.4(GALT):c.677T>C:p.Leu226Pro	coding	Pathogenic
9	34648449	T	C	T34648449C	GALT	NM_000155.4(GALT):c.680T>C:p.Leu227Pro	coding	Pathogenic
9	34648456	G	T	G34648456T	GALT	NM_000155.4(GALT):c.687G>T:p.Lys229Asn	coding	Pathogenic
9	34648458	T	C	T34648458C	GALT	NM_000155.4(GALT):c.687+2T>C	noncoding	Pathogenic
9	34648760	A	C	A34648760C	GALT	NM_000155.4(GALT):c.688-2A>C	noncoding	Pathogenic/Likely_pathogenic
9	34648765	C	T	C34648765T	GALT	NM_000155.4(GALT):c.691C>T:p.Arg231Cys	coding	Pathogenic/Likely_pathogenic
9	34648766	G	A	G34648766A	GALT	NM_000155.4(GALT):c.692G>A:p.Arg231His	coding	Pathogenic
9	34648771	G	C	G34648771C	GALT	NM_000155.4(GALT):c.697G>C:p.Val233Leu	coding	Pathogenic
9	34648773	C	A	C34648773A	GALT	NM_000155.4(GALT):c.699C>A:p.Val233=	coding	Benign
9	34648819	T	C	T34648819C	GALT	NM_000155.4(GALT):c.745T>C:p.Trp249Arg	coding	Pathogenic
9	34648821	G	A	G34648821A	GALT	NM_000155.4(GALT):c.747G>A:p.Trp249Ter	coding	Pathogenic
9	34648822	C	A	C34648822A	GALT	NM_000155.4(GALT):c.748C>A:p.Pro250Thr	coding	Pathogenic
9	34648830	G	T	G34648830T	GALT	NM_000155.4(GALT):c.756G>T:p.Gln252His	coding	Pathogenic
9	34648833	A	N	A34648833N	GALT	NM_000155.4(GALT):c.759A>N:p.Thr253=	coding	Benign
9	34648844	C	T	C34648844T	GALT	NM_000155.4(GALT):c.770C>T:p.Pro257Leu	coding	Pathogenic
9	34648849	C	T	C34648849T	GALT	NM_000155.4(GALT):c.775C>T:p.Arg259Trp	coding	Pathogenic/Likely_pathogenic
9	34648851	G	A	G34648851A	GALT	NM_000155.4(GALT):c.777G>A:p.Arg259=	coding	Pathogenic
9	34648859	G	C	G34648859C	GALT	NM_000155.4(GALT):c.785G>C:p.Arg262Pro	coding	Pathogenic
9	34648877	C	A	C34648877A	GALT	NM_000155.4(GALT):c.803C>A:p.Thr268Asn	coding	Benign
9	34648888	C	G	C34648888G	GALT	NM_000155.4(GALT):c.814C>G:p.Arg272Gly	coding	Pathogenic
9	34648907	A	G	A34648907G	GALT	NM_000155.4(GALT):c.820+13A>G	noncoding	Pathogenic/Likely_pathogenic
9	34648917	T	G	T34648917G	GALT	NM_000155.4(GALT):c.820+23T>G	noncoding	Benign
9	34648991	A	G	A34648991G	GALT	NM_000155.4(GALT):c.821-7A>G	noncoding	Pathogenic
9	34648996	A	G	A34648996G	GALT	NM_000155.4(GALT):c.821-2A>G	noncoding	Pathogenic
9	34649010	T	A	T34649010A	GALT	NM_000155.4(GALT):c.833T>A:p.Ile278Asn	coding	Pathogenic
9	34649013	T	G	T34649013G	GALT	NM_000155.4(GALT):c.836T>G:p.Met279Arg	coding	Pathogenic
9	34649031	A	G	A34649031G	GALT	NM_000155.4(GALT):c.854A>G:p.Lys285Arg	coding	Pathogenic
9	34649032	G	T	G34649032T	GALT	NM_000155.4(GALT):c.855G>T:p.Lys285Asn	coding	Pathogenic
9	34649042	C	T	C34649042T	GALT	NM_000155.4(GALT):c.865C>T:p.Leu289Phe	coding	Pathogenic
9	34649043	T	G	T34649043G	GALT	NM_000155.4(GALT):c.866T>G:p.Leu289Arg	coding	Pathogenic
9	34649048	G	A	G34649048A	GALT	NM_000155.4(GALT):c.871G>A:p.Glu291Lys	coding	Pathogenic
9	34649049	A	T	A34649049T	GALT	NM_000155.4(GALT):c.872A>T:p.Glu291Val	coding	Pathogenic
9	34649053	G	A	G34649053A	GALT	NM_000155.4(GALT):c.876G>A:p.Thr292=	coding	Benign
9	34649056	C	T	C34649056T	GALT	NM_000155.4(GALT):c.879C>T:p.Ser293=	coding	Benign/Likely_benign
9	34649058	T	A	T34649058A	GALT	NM_000155.4(GALT):c.881T>A:p.Phe294Tyr	coding	Pathogenic
9	34649076	G	A	G34649076A	GALT	NM_000155.4(GALT):c.899G>A:p.Trp300Ter	coding	Pathogenic
9	34649077	G	A	G34649077A	GALT	NM_000155.4(GALT):c.900G>A:p.Trp300Ter	coding	Pathogenic
9	34649082	G	A	G34649082A	GALT	NM_000155.4(GALT):c.904+1G>A	coding	Pathogenic
9	34649082	G	T	G34649082T	GALT	NM_000155.4(GALT):c.904+1G>T	coding	Pathogenic
9	34649086	G	A	G34649086A	GALT	NM_000155.4(GALT):c.904+5G>A	noncoding	Pathogenic
9	34649408	A	G	A34649408G	GALT	NM_000155.4(GALT):c.905-2A>G	noncoding	Pathogenic
9	34649409	G	A	G34649409A	GALT	NM_000155.4(GALT):c.905-1G>A	noncoding	Pathogenic
9	34649425	C	A	C34649425A	GALT	NM_000155.4(GALT):c.920C>A:p.Ser307Ter	coding	Pathogenic
9	34649427	G	A	G34649427A	GALT	NM_000155.4(GALT):c.922G>A:p.Glu308Lys	coding	Pathogenic
9	34649443	G	A	G34649443A	GALT	NM_000155.4(GALT):c.938G>A:p.Trp313Ter	coding	Pathogenic/Likely_pathogenic
9	34649450	T	C	T34649450C	GALT	NM_000155.4(GALT):c.945T>C:p.His315=	coding	Benign
9	34649452	G	A	G34649452A	GALT	NM_000155.4(GALT):c.947G>A:p.Trp316Ter	coding	Pathogenic/Likely_pathogenic
9	34649453	G	A	G34649453A	GALT	NM_000155.4(GALT):c.948G>A:p.Trp316Ter	coding	Pathogenic
9	34649455	A	G	A34649455G	GALT	NM_000155.4(GALT):c.950A>G:p.Gln317Arg	coding	Pathogenic
9	34649456	G	T	G34649456T	GALT	NM_000155.4(GALT):c.951G>T:p.Gln317His	coding	Pathogenic
9	34649459	G	A	G34649459A	GALT	NM_000155.4(GALT):c.954G>A:p.Leu318=	coding	Benign
9	34649462	C	A	C34649462A	GALT	NM_000155.4(GALT):c.957C>A:p.His319Gln	coding	Pathogenic/Likely_pathogenic
9	34649472	T	C	T34649472C	GALT	NM_000155.4(GALT):c.967T>C:p.Tyr323His	coding	Pathogenic
9	34649472	T	G	T34649472G	GALT	NM_000155.4(GALT):c.967T>G:p.Tyr323Asp	coding	Pathogenic
9	34649473	A	G	A34649473G	GALT	NM_000155.4(GALT):c.968A>G:p.Tyr323Cys	coding	Pathogenic
9	34649477	T	C	T34649477C	GALT	NM_000155.4(GALT):c.972T>C:p.Pro324=	coding	Benign
9	34649479	C	T	C34649479T	GALT	NM_000155.4(GALT):c.974C>T:p.Pro325Leu	coding	Pathogenic/Likely_pathogenic
9	34649485	T	C	T34649485C	GALT	NM_000155.4(GALT):c.980T>C:p.Leu327Pro	coding	Pathogenic
9	34649488	G	A	G34649488A	GALT	NM_000155.4(GALT):c.983G>A:p.Arg328His	coding	Pathogenic/Likely_pathogenic
9	34649491	C	T	C34649491T	GALT	NM_000155.4(GALT):c.986C>T:p.Ser329Phe	coding	Pathogenic
9	34649494	C	T	C34649494T	GALT	NM_000155.4(GALT):c.989C>T:p.Ala330Val	coding	Pathogenic
9	34649502	C	G	C34649502G	GALT	NM_000155.4(GALT):c.997C>G:p.Arg333Gly	coding	Pathogenic
9	34649502	C	T	C34649502T	GALT	NM_000155.4(GALT):c.997C>T:p.Arg333Trp	coding	Pathogenic/Likely_pathogenic
9	34649503	G	A	G34649503A	GALT	NM_000155.4(GALT):c.998G>A:p.Arg333Gln	coding	Pathogenic/Likely_pathogenic
9	34649503	G	T	G34649503T	GALT	NM_000155.4(GALT):c.998G>T:p.Arg333Leu	coding	Pathogenic
9	34649506	A	G	A34649506G	GALT	NM_000155.4(GALT):c.1001A>G:p.Lys334Arg	coding	Pathogenic
9	34649523	G	T	G34649523T	GALT	NM_000155.4(GALT):c.1018G>T:p.Glu340Ter	coding	Pathogenic
9	34649535	C	A	C34649535A	GALT	NM_000155.4(GALT):c.1030C>A:p.Gln344Lys	coding	Pathogenic/Likely_pathogenic
9	34649535	C	T	C34649535T	GALT	NM_000155.4(GALT):c.1030C>T:p.Gln344Ter	coding	Pathogenic
9	34649539	C	A	C34649539A	GALT	NM_000155.4(GALT):c.1034C>A:p.Ala345Asp	coding	Pathogenic
9	34649553	A	G	A34649553G	GALT	NM_000155.4(GALT):c.1048A>G:p.Thr350Ala	coding	Pathogenic
9	34649562	C	T	C34649562T	GALT	NM_000155.4(GALT):c.1057C>T:p.Gln353Ter	coding	Pathogenic/Likely_pathogenic
9	34649600	T	A	T34649600A	GALT	NM_000155.4(GALT):c.1059+36T>A	noncoding	Benign
9	34649620	C	T	C34649620T	GALT	NM_000155.4(GALT):c.1059+56C>T	noncoding	Pathogenic
9	34650368	G	A	G34650368A	GALT	NM_000155.4(GALT):c.1060-1G>A	noncoding	Pathogenic/Likely_pathogenic
9	34650407	C	A	C34650407A	GALT	NM_000155.4(GALT):c.1098C>A:p.Tyr366Ter	coding	Pathogenic
9	34650417	C	T	C34650417T	GALT	NM_000155.4(GALT):c.1108C>T:p.Gln370Ter	coding	Pathogenic
9	34650447	T	C	T34650447C	GALT	NM_000155.4(GALT):c.1138T>C:p.Ter380Arg	coding	Pathogenic
9	34650652	C	T	C34650652T	GALT	NM_000155.4(GALT):c.*203C>T	noncoding	Benign
9	34655289	C	T	C34655289T	IL11RA	NM_001142784.2(IL11RA):c.72C>T:p.Ser24=	coding	Benign/Likely_benign
9	34655632	C	T	C34655632T	IL11RA	NM_001142784.2(IL11RA):c.128C>T:p.Ser43Phe	coding	Benign/Likely_benign
9	34656731	A	C	A34656731C	IL11RA	NM_001142784.3(IL11RA):c.162-8A>C	noncoding	Benign
9	34656770	C	A	C34656770A	IL11RA	NM_001142784.3(IL11RA):c.193C>A:p.Pro65Thr	coding	Benign
9	34657331	C	T	C34657331T	IL11RA	NM_001142784.2(IL11RA):c.475C>T:p.Gln159Ter	coding	Pathogenic
9	34657476	C	T	C34657476T	IL11RA	NM_001142784.3(IL11RA):c.535C>T:p.Arg179Cys	coding	Benign
9	34658535	C	G	C34658535G	IL11RA	NM_001142784.2(IL11RA):c.662C>G:p.Pro221Arg	coding	Pathogenic
9	34658565	G	A	G34658565A	IL11RA	NM_001142784.3(IL11RA):c.692G>A:p.Gly231Asp	coding	Benign
9	34658596	A	G	A34658596G	IL11RA	NM_001142784.3(IL11RA):c.723A>G:p.Thr241=	coding	Benign
9	34658607	C	G	C34658607G	IL11RA	NM_001142784.2(IL11RA):c.734C>G:p.Ser245Cys	coding	Pathogenic
9	34659834	C	T	C34659834T	IL11RA	NM_001142784.2(IL11RA):c.886C>T:p.Arg296Trp	coding	Pathogenic
9	34662051	T	C	T34662051C	CCL27	NM_006664.4(CCL27):c.232A>G:p.Ile78Val	coding	Benign
9	34709583	T	C	T34709583C	CCL21	NM_002989.4(CCL21):c.288A>G:p.Pro96=	coding	Benign
9	34723254	T	G	T34723254G	FAM205A	NM_001141917.2(FAM205A):c.3986A>C:p.Asn1329Thr	coding	Benign
9	34723621	T	G	T34723621G	FAM205A	NM_001141917.2(FAM205A):c.3619A>C:p.Thr1207Pro	coding	Benign
9	34724062	G	A	G34724062A	FAM205A	NM_001141917.2(FAM205A):c.3178C>T:p.His1060Tyr	coding	Benign
9	34724301	T	A	T34724301A	FAM205A	NM_001141917.2(FAM205A):c.2939A>T:p.Asn980Ile	coding	Benign
9	34724686	C	T	C34724686T	FAM205A	NM_001141917.2(FAM205A):c.2554G>A:p.Val852Ile	coding	Benign
9	34724788	C	A	C34724788A	FAM205A	NM_001141917.2(FAM205A):c.2452G>T:p.Val818Leu	coding	Benign
9	34725745	T	C	T34725745C	FAM205A	NM_001141917.2(FAM205A):c.1495A>G:p.Met499Val	coding	Benign
9	34729341	C	A	C34729341A	FAM205A	NM_001141917.2(FAM205A):c.87G>T:p.Trp29Cys	coding	Benign
9	35056116	G	A	G35056116A	VCP	NM_007126.5(VCP):c.*1001C>T	noncoding	Benign/Likely_benign
9	35056211	T	C	T35056211C	VCP	NM_007126.5(VCP):c.*906A>G	noncoding	Benign
9	35056521	G	A	G35056521A	VCP	NM_007126.5(VCP):c.*596C>T	noncoding	Benign
9	35056679	T	C	T35056679C	VCP	NM_007126.5(VCP):c.*438A>G	noncoding	Benign
9	35056964	C	A	C35056964A	VCP	NM_007126.5(VCP):c.*153G>T	noncoding	Benign
9	35057102	G	A	G35057102A	VCP	NM_007126.5(VCP):c.*15C>T	noncoding	Benign/Likely_benign
9	35057105	G	A	G35057105A	VCP	NM_007126.5(VCP):c.*12C>T	noncoding	Benign/Likely_benign
9	35057113	C	A	C35057113A	VCP	NM_007126.5(VCP):c.*4G>T	noncoding	Benign/Likely_benign
9	35057477	T	C	T35057477C	VCP	NM_007126.5(VCP):c.2214A>G:p.Glu738=	coding	Benign
9	35059056	A	C	A35059056C	VCP	NM_007126.5(VCP):c.2160+8T>G	noncoding	Benign
9	35059622	C	A	C35059622A	VCP	NM_007126.5(VCP):c.1875G>T:p.Arg625=	coding	Benign/Likely_benign
9	35059723	C	T	C35059723T	VCP	NM_007126.5(VCP):c.1774G>A:p.Asp592Asn	coding	Pathogenic
9	35059793	T	C	T35059793C	VCP	NM_007126.5(VCP):c.1704A>G:p.Gln568=	coding	Benign/Likely_benign
9	35060305	T	C	T35060305C	VCP	NM_007126.5(VCP):c.1695+8A>G	noncoding	Benign
9	35060937	G	C	G35060937C	VCP	NM_007126.5(VCP):c.1360-14C>G	noncoding	Benign
9	35060958	T	C	T35060958C	VCP	NM_007126.5(VCP):c.1360-35A>G	noncoding	Benign
9	35061679	G	A	G35061679A	VCP	NM_007126.5(VCP):c.1092C>T:p.Asp364=	coding	Benign
9	35061698	C	A	C35061698A	VCP	NM_007126.5(VCP):c.1082-9G>T	noncoding	Benign
9	35062235	G	A	G35062235A	VCP	NM_007126.5(VCP):c.927C>T:p.Ile309=	coding	Benign
9	35062330	A	G	A35062330G	VCP	NM_007126.5(VCP):c.832T>C:p.Leu278=	coding	Benign
9	35062357	G	C	G35062357C	VCP	NM_007126.5(VCP):c.812-7C>G	noncoding	Benign/Likely_benign
9	35062975	C	T	C35062975T	VCP	NM_007126.5(VCP):c.811+3G>A	noncoding	Benign
9	35064167	G	T	G35064167T	VCP	NM_007126.5(VCP):c.695C>A:p.Ala232Glu	coding	Pathogenic
9	35065255	C	T	C35065255T	VCP	NM_007126.5(VCP):c.572G>A:p.Arg191Gln	coding	Pathogenic/Likely_pathogenic
9	35065351	C	T	C35065351T	VCP	NM_007126.5(VCP):c.476G>A:p.Arg159His	coding	Pathogenic
9	35065352	G	A	G35065352A	VCP	NM_007126.5(VCP):c.475C>T:p.Arg159Cys	coding	Pathogenic/Likely_pathogenic
9	35065352	G	C	G35065352C	VCP	NM_007126.5(VCP):c.475C>G:p.Arg159Gly	coding	Pathogenic
9	35065358	C	G	C35065358G	VCP	NM_007126.5(VCP):c.469G>C:p.Gly157Arg	coding	Pathogenic
9	35065363	C	G	C35065363G	VCP	NM_007126.5(VCP):c.464G>C:p.Arg155Pro	coding	Pathogenic
9	35065363	C	T	C35065363T	VCP	NM_007126.5(VCP):c.464G>A:p.Arg155His	coding	Pathogenic
9	35065364	G	A	G35065364A	VCP	NM_007126.5(VCP):c.463C>T:p.Arg155Cys	coding	Pathogenic/Likely_pathogenic
9	35067903	C	T	C35067903T	VCP	NM_007126.5(VCP):c.290G>A:p.Gly97Glu	coding	Pathogenic
9	35067910	G	C	G35067910C	VCP	NM_007126.5(VCP):c.283C>G:p.Arg95Gly	coding	Pathogenic
9	35067916	G	A	G35067916A	VCP	NM_007126.5(VCP):c.277C>T:p.Arg93Cys	coding	Pathogenic
9	35068204	C	T	C35068204T	VCP	NM_007126.5(VCP):c.129+47G>A	noncoding	Benign
9	35068301	T	C	T35068301C	VCP	NM_007126.5(VCP):c.79A>G:p.Ile27Val	coding	Benign
9	35068367	A	G	A35068367G	VCP	NM_007126.5(VCP):c.18-5T>C	noncoding	Benign
9	35072620	G	A	G35072620A	VCP	NM_007126.5(VCP):c.-267C>T	noncoding	Benign/Likely_benign
9	35074214	G	A	G35074214A	FANCG	NM_004629.2(FANCG):c.1763C>T:p.Ser588Phe	coding	Pathogenic
9	35074217	C	G	C35074217G	FANCG	NM_004629.2(FANCG):c.1761-1G>C	coding	Pathogenic
9	35074217	C	T	C35074217T	FANCG	NM_004629.2(FANCG):c.1761-1G>A	coding	Pathogenic
9	35074416	C	T	C35074416T	FANCG	NM_004629.2(FANCG):c.1715G>A:p.Trp572Ter	coding	Pathogenic
9	35074489	G	A	G35074489A	FANCG	NM_004629.1(FANCG):c.1642C>T:p.Arg548Ter	coding	Pathogenic
9	35074920	T	C	T35074920C	FANCG;VCP	NM_004629.1(FANCG):c.1636+7A>G	noncoding	Benign
9	35074927	C	G	C35074927G	FANCG	NM_004629.2(FANCG):c.1636G>C:p.Gly546Arg	coding	Pathogenic
9	35075001	C	T	C35075001T	FANCG	NM_004629.2(FANCG):c.1562G>A:p.Gly521Glu	coding	Pathogenic
9	35075002	C	A	C35075002A	FANCG	NM_004629.2(FANCG):c.1561G>T:p.Gly521Ter	coding	Pathogenic
9	35075035	G	A	G35075035A	FANCG	NM_004629.2(FANCG):c.1528C>T:p.Gln510Ter	coding	Pathogenic
9	35075278	C	G	C35075278G	FANCG	NM_004629.1(FANCG):c.1480+1G>C	noncoding	Pathogenic
9	35075755	C	G	C35075755G	FANCG	NM_004629.2(FANCG):c.1144-1G>C	coding	Pathogenic
9	35075957	C	G	C35075957G	FANCG	NM_004629.2(FANCG):c.1143+5G>C	noncoding	Pathogenic
9	35075957	C	T	C35075957T	FANCG	NM_004629.2(FANCG):c.1143+5G>A	noncoding	Pathogenic
9	35075972	G	A	G35075972A	FANCG;VCP	NM_004629.1(FANCG):c.1133C>T:p.Ser378Leu	coding	Benign/Likely_benign
9	35076030	T	C	T35076030C	FANCG	NM_004629.1(FANCG):c.1077-2A>G	noncoding	Pathogenic
9	35076442	G	A	G35076442A	FANCG	NM_004629.1(FANCG):c.1066C>T:p.Gln356Ter	coding	Pathogenic
9	35076520	G	A	G35076520A	FANCG	NM_004629.1(FANCG):c.988C>T:p.Pro330Ser	coding	Benign
9	35076532	C	A	C35076532A	FANCG	NM_004629.2(FANCG):c.976G>T:p.Glu326Ter	coding	Pathogenic
9	35076585	T	C	T35076585C	FANCG	NM_004629.1(FANCG):c.925-2A>G	noncoding	Pathogenic
9	35076758	G	A	G35076758A	FANCG;VCP	NM_004629.1(FANCG):c.890C>T:p.Thr297Ile	coding	Benign/Likely_benign
9	35076871	C	G	C35076871G	FANCG	NM_004629.2(FANCG):c.778-1G>C	coding	Pathogenic
9	35077096	G	A	G35077096A	FANCG	NM_004629.1(FANCG):c.652C>T:p.Gln218Ter	coding	Pathogenic
9	35077263	C	A	C35077263A	FANCG	NM_004629.2(FANCG):c.646+1G>T	noncoding	Pathogenic
9	35077270	G	A	G35077270A	FANCG;VCP	NM_004629.1(FANCG):c.640C>T:p.Arg214Cys	coding	Benign/Likely_benign
9	35077338	A	C	A35077338C	FANCG	NM_004629.2(FANCG):c.572T>G:p.Leu191Ter	coding	Pathogenic
9	35077345	C	A	C35077345A	FANCG	NM_004629.2(FANCG):c.565G>T:p.Glu189Ter	coding	Pathogenic
9	35077444	T	C	T35077444C	FANCG	NM_004629.1(FANCG):c.511-45A>G	noncoding	Benign
9	35078276	G	C	G35078276C	FANCG	NM_004629.1(FANCG):c.375C>G:p.Val125=	coding	Benign
9	35078338	C	A	C35078338A	FANCG	NM_004629.1(FANCG):c.313G>T:p.Glu105Ter	coding	Pathogenic
9	35078604	C	G	C35078604G	FANCG	NM_004629.1(FANCG):c.307+1G>C	noncoding	Pathogenic
9	35078674	G	A	G35078674A	FANCG	NM_004629.1(FANCG):c.238C>T:p.Leu80=	coding	Benign/Likely_benign
9	35078700	A	G	A35078700G	FANCG	NM_004629.2(FANCG):c.212T>C:p.Leu71Pro	coding	Pathogenic
9	35079150	C	T	C35079150T	FANCG	NM_004629.2(FANCG):c.175+1G>A	noncoding	Pathogenic
9	35079208	G	A	G35079208A	FANCG	NM_004629.2(FANCG):c.118C>T:p.Gln40Ter	coding	Pathogenic
9	35079242	C	T	C35079242T	FANCG	NM_004629.2(FANCG):c.85-1G>A	coding	Pathogenic
9	35079243	T	A	T35079243A	FANCG	NM_004629.2(FANCG):c.85-2A>T	noncoding	Pathogenic
9	35079448	T	C	T35079448C	FANCG	NM_004629.1(FANCG):c.77A>G:p.Gln26Arg	coding	Benign
9	35079460	C	G	C35079460G	FANCG	NM_004629.2(FANCG):c.65G>C:p.Arg22Pro	coding	Pathogenic
9	35079916	T	C	T35079916C	FANCG	NM_004629.1(FANCG):c.-392A>G	noncoding	Benign
9	35080014	C	A	C35080014A	FANCG	NM_004629.1(FANCG):c.-490G>T	noncoding	Benign
9	35089051	A	C	A35089051C	PIGO	NM_032634.4(PIGO):c.*41T>G	noncoding	Benign
9	35089406	G	A	G35089406A	PIGO	NM_032634.4(PIGO):c.3114C>T:p.Leu1038=	coding	Benign
9	35089501	G	A	G35089501A	PIGO	NM_032634.4(PIGO):c.3070-51C>T	noncoding	Benign
9	35090061	C	T	C35090061T	PIGO	NM_032634.3(PIGO):c.3069+5G>A	noncoding	Pathogenic
9	35090266	G	A	G35090266A	PIGO	NM_032634.4(PIGO):c.2869C>T:p.Leu957Phe	coding	Pathogenic
9	35090595	G	A	G35090595A	PIGO	NM_032634.4(PIGO):c.2725C>T:p.Gln909Ter	coding	Pathogenic
9	35090723	T	C	T35090723C	PIGO	NM_032634.4(PIGO):c.2648-51A>G	noncoding	Benign
9	35091157	G	A	G35091157A	PIGO	NM_032634.4(PIGO):c.2647+83C>T	noncoding	Benign
9	35091367	G	A	G35091367A	PIGO	NM_032634.4(PIGO):c.2520C>T:p.Leu840=	coding	Benign/Likely_benign
9	35091455	C	T	C35091455T	PIGO	NM_032634.4(PIGO):c.2432G>A:p.Arg811Gln	coding	Benign
9	35091483	G	A	G35091483A	PIGO	NM_032634.4(PIGO):c.2404C>T:p.Arg802Ter	coding	Pathogenic/Likely_pathogenic
9	35091490	T	G	T35091490G	PIGO	NM_032634.4(PIGO):c.2397A>C:p.Gln799His	coding	Pathogenic
9	35091689	C	T	C35091689T	PIGO	NM_032634.4(PIGO):c.2198G>A:p.Arg733Gln	coding	Benign
9	35091847	C	G	C35091847G	PIGO	NM_032634.4(PIGO):c.2040G>C:p.Leu680=	coding	Benign/Likely_benign
9	35091880	C	T	C35091880T	PIGO	NM_032634.4(PIGO):c.2007G>A:p.Trp669Ter	coding	Pathogenic
9	35091883	C	T	C35091883T	PIGO	NM_032634.4(PIGO):c.2004G>A:p.Leu668=	coding	Benign
9	35091928	C	T	C35091928T	PIGO	NM_032634.4(PIGO):c.1959G>A:p.Trp653Ter	coding	Pathogenic
9	35092414	C	G	C35092414G	PIGO	NM_032634.4(PIGO):c.1473G>C:p.Leu491=	coding	Benign/Likely_benign
9	35092483	T	G	T35092483G	PIGO	NM_032634.4(PIGO):c.1404A>C:p.Ala468=	coding	Benign
9	35092782	G	T	G35092782T	PIGO	NM_032634.4(PIGO):c.1120-15C>A	noncoding	Benign
9	35092878	T	C	T35092878C	PIGO	NM_032634.4(PIGO):c.1120-111A>G	noncoding	Benign
9	35092908	C	T	C35092908T	PIGO	NM_032634.4(PIGO):c.1119+122G>A	noncoding	Benign
9	35093023	T	C	T35093023C	PIGO	NM_032634.4(PIGO):c.1119+7A>G	noncoding	Benign
9	35093705	G	A	G35093705A	PIGO	NM_032634.4(PIGO):c.780-125C>T	noncoding	Benign
9	35093809	C	G	C35093809G	PIGO	NM_032634.4(PIGO):c.779+92G>C	noncoding	Benign
9	35093852	G	A	G35093852A	PIGO	NM_032634.4(PIGO):c.779+49C>T	noncoding	Benign
9	35093966	G	A	G35093966A	PIGO	NM_032634.4(PIGO):c.714C>T:p.Gly238=	coding	Benign/Likely_benign
9	35094376	G	A	G35094376A	PIGO	NM_032634.4(PIGO):c.512-17C>T	noncoding	Benign
9	35094964	C	T	C35094964T	PIGO	NM_032634.4(PIGO):c.511+91G>A	noncoding	Benign
9	35095055	C	A	C35095055A	PIGO	NM_032634.4(PIGO):c.511G>T:p.Gly171Ter	coding	Pathogenic
9	35095105	G	T	G35095105T	PIGO	NM_032634.4(PIGO):c.461C>A:p.Ala154Asp	coding	Benign/Likely_benign
9	35095143	G	A	G35095143A	PIGO	NM_032634.4(PIGO):c.423C>T:p.Gly141=	coding	Benign
9	35095370	G	A	G35095370A	PIGO	NM_032634.4(PIGO):c.196C>T:p.Arg66Ter	coding	Pathogenic
9	35095403	G	A	G35095403A	PIGO	NM_032634.4(PIGO):c.163C>T:p.Gln55Ter	coding	Pathogenic
9	35295883	C	A	C35295883A	UNC13B	NM_006377.5(UNC13B):c.714C>A:p.Asp238Glu	coding	Benign
9	35376111	G	A	G35376111A	UNC13B	NM_006377.5(UNC13B):c.1452G>A:p.Thr484=	coding	Benign
9	35397169	C	G	C35397169G	UNC13B	NM_006377.5(UNC13B):c.3288C>G:p.Phe1096Leu	coding	Benign
9	35399005	C	T	C35399005T	UNC13B	NM_006377.5(UNC13B):c.3798C>T:p.Leu1266=	coding	Benign
9	35547793	C	T	C35547793T	RUSC2	NM_014806.5(RUSC2):c.1272C>T:p.His424=	coding	Benign
9	35555461	G	A	G35555461A	RUSC2	NM_014806.5(RUSC2):c.2416G>A:p.Glu806Lys	coding	Benign
9	35555641	C	T	C35555641T	RUSC2	NM_014806.5(RUSC2):c.2596C>T:p.Arg866Ter	coding	Pathogenic
9	35560592	C	T	C35560592T	RUSC2	NM_014806.5(RUSC2):c.3952C>T:p.Arg1318Ter	coding	Pathogenic
9	35657756	C	A	C35657756A	RMRP	NR_003051.3(RMRP):n.263G>T	noncoding	Pathogenic
9	35657776	T	C	T35657776C	RMRP	NR_003051.3(RMRP):n.243A>G	noncoding	Pathogenic/Likely_pathogenic
9	35657800	T	C	T35657800C	RMRP	NR_003051.3(RMRP):n.219A>G	noncoding	Pathogenic
9	35657804	T	G	T35657804G	RMRP	NR_003051.3(RMRP):n.215A>C	noncoding	Pathogenic
9	35657823	G	A	G35657823A	RMRP	NR_003051.3(RMRP):n.196C>T	noncoding	Pathogenic/Likely_pathogenic
9	35657841	G	A	G35657841A	RMRP	NR_003051.3(RMRP):n.178C>T	noncoding	Benign
9	35657862	C	G	C35657862G	RMRP	NR_003051.3(RMRP):n.157G>C	noncoding	Benign
9	35657872	C	T	C35657872T	RMRP	NR_003051.3(RMRP):n.147G>A	noncoding	Pathogenic
9	35657948	T	C	T35657948C	RMRP;CCDC107	NR_003051.3(RMRP):n.71A>G	noncoding	Pathogenic
9	35657955	G	A	G35657955A	RMRP	NR_003051.3(RMRP):n.64C>T	noncoding	Pathogenic/Likely_pathogenic
9	35658014	G	A	G35658014A	RMRP	NR_003051.3(RMRP):n.5C>T	noncoding	Pathogenic
9	35658019	A	G	A35658019G	RMRP	NR_003051.3(RMRP):n.-1T>C	noncoding	Benign
9	35658038	G	C	G35658038C	RMRP	NR_003051.3(RMRP):n.-20C>G	noncoding	Benign
9	35658041	G	C	G35658041C	RMRP	NR_003051.3(RMRP):n.-23C>G	noncoding	Benign/Likely_benign
9	35658042	T	C	T35658042C	RMRP	NR_003051.3(RMRP):n.-24A>G	noncoding	Benign
9	35658065	G	T	G35658065T	RMRP	NR_003051.3(RMRP):n.-47C>A	noncoding	Benign
9	35658073	T	C	T35658073C	RMRP	NR_003051.3(RMRP):n.-55A>G	noncoding	Benign
9	35658075	A	G	A35658075G	RMRP	NR_003051.3(RMRP):n.-57T>C	noncoding	Benign
9	35658080	G	T	G35658080T	RMRP	NR_003051.3(RMRP):n.-62C>A	noncoding	Benign
9	35674301	T	C	T35674301C	CA9	NM_001216.3(CA9):c.342T>C:p.Pro114=	coding	Benign
9	35683151	C	T	C35683151T	TPM2	NM_003289.4(TPM2):c.*8G>A	coding	Benign
9	35683152	G	A	G35683152A	TPM2	NM_213674.1(TPM2):c.773-989C>T	coding	Benign
9	35683201	G	A	G35683201A	TPM2	NM_213674.1(TPM2):c.773-1038C>T	coding	Benign/Likely_benign
9	35683232	T	C	T35683232C	TPM2	NM_003289.4(TPM2):c.782A>G:p.Tyr261Cys	coding	Pathogenic
9	35683476	C	G	C35683476G	TPM2	NM_213674.1(TPM2):c.772+770G>C	noncoding	Benign
9	35684765	G	C	G35684765C	TPM2	NM_213674.1(TPM2):c.640-215C>G	coding	Pathogenic
9	35685486	T	G	T35685486G	TPM2	NM_213674.1(TPM2):c.440A>C:p.Gln147Pro	coding	Pathogenic
9	35685529	G	A	G35685529A	TPM2	NM_213674.1(TPM2):c.397C>T:p.Arg133Trp	coding	Pathogenic
9	35685576	G	A	G35685576A	TPM2	NM_213674.1(TPM2):c.375-25C>T	noncoding	Benign
9	35685645	A	G	A35685645G	TPM2	NM_213674.1(TPM2):c.374+2T>C	noncoding	Pathogenic
9	35685672	C	T	C35685672T	TPM2	NM_213674.1(TPM2):c.349G>A:p.Glu117Lys	coding	Pathogenic
9	35685713	T	C	T35685713C	TPM2	NM_213674.1(TPM2):c.308A>G:p.Gln103Arg	coding	Pathogenic
9	35685721	G	A	G35685721A	TPM2	NM_213674.1(TPM2):c.300C>T:p.Asp100=	coding	Benign/Likely_benign
9	35685750	G	C	G35685750C	TPM2	NM_213674.1(TPM2):c.271C>G:p.Arg91Gly	coding	Pathogenic
9	35688938	G	A	G35688938A	TPM2	NM_213674.1(TPM2):c.240+208C>T	noncoding	Benign
9	35689265	C	T	C35689265T	TPM2	NM_213674.1(TPM2):c.121G>A:p.Glu41Lys	coding	Pathogenic
9	35689376	T	C	T35689376C	TPM2	NM_213674.1(TPM2):c.115-105A>G	noncoding	Benign
9	35689748	G	A	G35689748A	TPM2	NM_213674.1(TPM2):c.70C>T:p.Gln24Ter	coding	Pathogenic/Likely_pathogenic
9	35689882	G	A	G35689882A	TPM2	NM_213674.1(TPM2):c.-65C>T	noncoding	Benign
9	35689952	A	T	A35689952T	TPM2	NM_213674.1(TPM2):c.-135T>A	noncoding	Benign
9	35689953	A	T	A35689953T	TPM2	NM_213674.1(TPM2):c.-136T>A	noncoding	Benign
9	35689954	A	T	A35689954T	TPM2	NM_213674.1(TPM2):c.-137T>A	noncoding	Benign
9	35690105	A	G	A35690105G	TPM2	NM_003289.3(TPM2):c.-288T>C	noncoding	Benign
9	35690313	C	T	C35690313T	TPM2	NM_003289.3(TPM2):c.-496G>A	noncoding	Benign
9	35706010	A	G	A35706010G	TLN1	NM_006289.4(TLN1):c.5463T>C:p.Ala1821=	coding	Benign
9	35706337	C	T	C35706337T	TLN1	NM_006289.4(TLN1):c.5220G>A:p.Pro1740=	coding	Benign
9	35707486	C	T	C35707486T	TLN1	NM_006289.4(TLN1):c.4635G>A:p.Ala1545=	coding	Benign
9	35714272	G	A	G35714272A	TLN1	NM_006289.4(TLN1):c.3087C>T:p.Thr1029=	coding	Benign
9	35716561	G	A	G35716561A	TLN1	NM_006289.4(TLN1):c.2459-5C>T	noncoding	Benign
9	35717272	G	A	G35717272A	TLN1	NM_006289.4(TLN1):c.2332C>T:p.Leu778=	coding	Benign
9	35724948	C	T	C35724948T	TLN1	NM_006289.4(TLN1):c.240G>A:p.Glu80=	coding	Benign
9	35736102	C	T	C35736102T	CREB3	NM_006368.5(CREB3):c.666C>T:p.Asn222=	coding	Benign
9	35736222	T	C	T35736222C	CREB3	NM_006368.5(CREB3):c.697-5T>C	noncoding	Benign
9	35737335	C	T	C35737335T	GBA2	NM_020944.3(GBA2):c.2618G>A:p.Arg873His	coding	Pathogenic/Likely_pathogenic
9	35738328	G	A	G35738328A	GBA2	NM_020944.3(GBA2):c.2101C>T:p.Gln701Ter	coding	Pathogenic
9	35738811	G	A	G35738811A	GBA2	NM_020944.3(GBA2):c.1888C>T:p.Arg630Trp	coding	Pathogenic/Likely_pathogenic
9	35738995	C	T	C35738995T	GBA2	NM_020944.3(GBA2):c.1795+7G>A	noncoding	Benign
9	35740012	C	T	C35740012T	GBA2	NM_020944.3(GBA2):c.1395G>A:p.Pro465=	coding	Benign
9	35740049	G	T	G35740049T	GBA2	NM_020944.3(GBA2):c.1358C>A:p.Ala453Glu	coding	Benign
9	35740225	C	T	C35740225T	GBA2	NM_020944.3(GBA2):c.1267G>A:p.Gly423Ser	coding	Benign
9	35740339	C	A	C35740339A	GBA2	NM_020944.3(GBA2):c.1153G>T:p.Gly385Ter	coding	Pathogenic
9	35740346	C	T	C35740346T	GBA2	NM_020944.3(GBA2):c.1146G>A:p.Thr382=	coding	Benign/Likely_benign
9	35740618	G	A	G35740618A	GBA2	NM_020944.3(GBA2):c.1037C>T:p.Thr346Met	coding	Benign
9	35740833	G	A	G35740833A	GBA2	NM_020944.3(GBA2):c.1018C>T:p.Arg340Ter	coding	Pathogenic
9	35740905	C	T	C35740905T	GBA2	NM_020944.3(GBA2):c.946G>A:p.Gly316Arg	coding	Benign
9	35741666	C	G	C35741666G	GBA2	NM_020944.3(GBA2):c.786+6G>C	noncoding	Benign
9	35741758	G	A	G35741758A	GBA2	NM_020944.3(GBA2):c.700C>T:p.Arg234Ter	coding	Pathogenic
9	35744346	C	T	C35744346T	GBA2	NM_020944.3(GBA2):c.518G>A:p.Trp173Ter	coding	Pathogenic
9	35744703	G	T	G35744703T	GBA2	NM_020944.3(GBA2):c.363C>A:p.Tyr121Ter	coding	Pathogenic
9	35748560	C	A	C35748560A	GBA2	NM_020944.3(GBA2):c.145G>T:p.Glu49Ter	coding	Pathogenic
9	35748672	G	A	G35748672A	GBA2	NM_020944.3(GBA2):c.33C>T:p.Thr11=	coding	Benign
9	35749017	G	A	G35749017A	GBA2	NM_020944.3(GBA2):c.-313C>T	noncoding	Benign
9	35792422	C	A	C35792422A	NPR2	NM_003995.4(NPR2):c.14C>A:p.Ser5Ter	coding	Pathogenic
9	35792426	T	C	T35792426C	NPR2	NM_003995.3(NPR2):c.18T>C:p.Leu6=	coding	Benign
9	35792502	C	A	C35792502A	NPR2	NM_003995.3(NPR2):c.94C>A:p.Pro32Thr	coding	Pathogenic
9	35792634	T	C	T35792634C	NPR2	NM_003995.3(NPR2):c.226T>C:p.Ser76Pro	coding	Pathogenic
9	35792751	T	G	T35792751G	NPR2	NM_003995.3(NPR2):c.343T>G:p.Trp115Gly	coding	Pathogenic
9	35792936	T	A	T35792936A	NPR2	NM_003995.3(NPR2):c.528T>A:p.Asp176Glu	coding	Pathogenic
9	35792968	T	A	T35792968A	NPR2	NM_003995.3(NPR2):c.560T>A:p.Val187Asp	coding	Pathogenic
9	35793894	C	A	C35793894A	NPR2	NM_003995.3(NPR2):c.668-4C>A	noncoding	Benign
9	35794018	G	C	G35794018C	NPR2	NM_003995.3(NPR2):c.788G>C:p.Arg263Pro	coding	Pathogenic
9	35799659	G	A	G35799659A	NPR2	NM_003995.3(NPR2):c.915G>A:p.Glu305=	coding	Benign
9	35800033	C	T	C35800033T	NPR2	NM_003995.3(NPR2):c.999C>T:p.Ile333=	coding	Benign
9	35800427	C	T	C35800427T	NPR2	NM_003995.4(NPR2):c.1162C>T	coding	Pathogenic
9	35800739	C	G	C35800739G	NPR2	NM_003995.3(NPR2):c.1249C>G:p.Gln417Glu	coding	Pathogenic
9	35801153	C	T	C35801153T	NPR2	NM_003995.3(NPR2):c.1435C>T:p.Arg479Ter	coding	Pathogenic
9	35801668	G	C	G35801668C	NPR2	NM_003995.3(NPR2):c.1462G>C:p.Ala488Pro	coding	Pathogenic
9	35802196	C	A	C35802196A	NPR2	NM_003995.3(NPR2):c.1633-10C>A	noncoding	Benign/Likely_benign
9	35802586	C	T	C35802586T	NPR2	NM_003995.3(NPR2):c.1794C>T:p.Tyr598=	coding	Benign
9	35802805	T	A	T35802805A	NPR2	NM_003995.4(NPR2):c.1887+2T>A	noncoding	Pathogenic
9	35805586	C	T	C35805586T	NPR2	NM_003995.3(NPR2):c.1963C>T:p.Arg655Cys	coding	Pathogenic
9	35805925	C	T	C35805925T	NPR2	NM_003995.4(NPR2):c.2143C>T:p.Gln715Ter	coding	Pathogenic
9	35806163	T	C	T35806163C	NPR2	NM_003995.3(NPR2):c.2302T>C:p.Cys768Arg	coding	Pathogenic
9	35806220	C	T	C35806220T	NPR2	NM_003995.3(NPR2):c.2359C>T:p.Arg787Trp	coding	Benign/Likely_benign
9	35806453	T	C	T35806453C	NPR2	NM_003995.3(NPR2):c.2434T>C:p.Leu812=	coding	Benign
9	35806474	C	T	C35806474T	NPR2	NM_003995.3(NPR2):c.2455C>T:p.Arg819Cys	coding	Pathogenic
9	35807156	A	G	A35807156G	NPR2	NM_003995.3(NPR2):c.2643+10A>G	noncoding	Benign/Likely_benign
9	35807333	G	A	G35807333A	NPR2	NM_003995.3(NPR2):c.2647G>A:p.Val883Met	coding	Pathogenic
9	35808277	C	T	C35808277T	SPAG8	NM_172312.2(SPAG8):c.1402G>A:p.Gly468Arg	coding	Benign
9	35808557	C	T	C35808557T	NPR2	NM_003995.3(NPR2):c.2761C>T:p.Arg921Ter	coding	Pathogenic
9	35808811	G	A	G35808811A	NPR2	NM_172312.2(SPAG8):c.1373-505C>T	coding	Pathogenic
9	35810248	G	A	G35810248A	SPAG8	NM_001039592.2(SPAG8):c.1262C>T:p.Pro421Leu	coding	Benign
9	35810994	G	A	G35810994A	SPAG8	NM_001039592.2(SPAG8):c.928C>T:p.Arg310Ter	coding	Benign
9	35811218	C	T	C35811218T	SPAG8	NM_001039592.2(SPAG8):c.828G>A:p.Pro276=	coding	Benign
9	35811448	C	T	C35811448T	SPAG8	NM_001039592.2(SPAG8):c.598G>A:p.Gly200Ser	coding	Benign
9	35811718	T	C	T35811718C	SPAG8	NM_001039592.2(SPAG8):c.328A>G:p.Ser110Gly	coding	Benign
9	35811752	C	T	C35811752T	SPAG8	NM_001039592.2(SPAG8):c.294G>A:p.Ala98=	coding	Benign
9	35811887	C	T	C35811887T	SPAG8	NM_001039592.2(SPAG8):c.159G>A:p.Ala53=	coding	Benign
9	35958011	C	T	C35958011T	OR2S2	NM_019897.2(OR2S2):c.88G>A:p.Val30Met	coding	Benign
9	36058819	T	G	T36058819G	RECK	NM_021111.3(RECK):c.160-8T>G	noncoding	Benign
9	36102091	A	C	A36102091C	RECK	NM_021111.3(RECK):c.1299-3A>C	noncoding	Benign
9	36122958	C	T	C36122958T	RECK	NM_021111.3(RECK):c.2829C>T:p.Ala943=	coding	Benign
9	36147874	C	T	C36147874T	GLIPR2	NM_022343.4(GLIPR2):c.102C>T:p.Asn34=	coding	Benign
9	36162429	C	T	C36162429T	GLIPR2	NM_022343.4(GLIPR2):c.372C>T:p.Asp124=	coding	Benign
9	36170955	C	T	C36170955T	CCIN	NM_005893.3(CCIN):c.1453C>T:p.Arg485Trp	coding	Benign
9	36198973	G	A	G36198973A	CLTA	NM_001833.4(CLTA):c.256-6G>A	noncoding	Benign
9	36204081	G	A	G36204081A	CLTA	NM_001833.4(CLTA):c.387G>A:p.Arg129=	coding	Benign
9	36214576	C	T	C36214576T	GNE	NM_005476.7(GNE):c.*2789G>A	noncoding	Benign/Likely_benign
9	36214974	G	A	G36214974A	GNE	NM_005476.7(GNE):c.*2391C>T	noncoding	Benign
9	36215309	G	A	G36215309A	GNE	NM_005476.7(GNE):c.*2056C>T	noncoding	Benign/Likely_benign
9	36215539	C	G	C36215539G	GNE	NM_005476.7(GNE):c.*1826G>C	noncoding	Benign
9	36215584	C	T	C36215584T	GNE	NM_005476.7(GNE):c.*1781G>A	noncoding	Benign
9	36215730	C	T	C36215730T	GNE	NM_005476.7(GNE):c.*1635G>A	noncoding	Benign/Likely_benign
9	36216161	A	G	A36216161G	GNE	NM_005476.7(GNE):c.*1204T>C	noncoding	Benign/Likely_benign
9	36216297	T	A	T36216297A	GNE	NM_005476.7(GNE):c.*1068A>T	noncoding	Benign
9	36216311	G	T	G36216311T	GNE	NM_005476.7(GNE):c.*1054C>A	noncoding	Benign
9	36217291	C	T	C36217291T	GNE	NM_005476.7(GNE):c.*74G>A	noncoding	Benign/Likely_benign
9	36217399	A	G	A36217399G	GNE	NM_005476.7(GNE):c.2135T>C:p.Met712Thr	coding	Pathogenic
9	36217511	A	G	A36217511G	GNE	NM_005476.7(GNE):c.2023T>C:p.Tyr675His	coding	Pathogenic
9	36217801	G	A	G36217801A	GNE	NM_005476.7(GNE):c.1934-201C>T	noncoding	Benign
9	36218021	C	G	C36218021G	GNE	NM_005476.7(GNE):c.1933+162G>C	noncoding	Benign
9	36218201	G	A	G36218201A	GNE	NM_005476.7(GNE):c.1915C>T:p.Gln639Ter	coding	Pathogenic
9	36218224	G	A	G36218224A	GNE	NM_005476.7(GNE):c.1892C>T:p.Ala631Val	coding	Pathogenic
9	36218225	C	T	C36218225T	GNE	NM_005476.7(GNE):c.1891G>A:p.Ala631Thr	coding	Pathogenic
9	36218244	C	T	C36218244T	GNE	NM_005476.7(GNE):c.1872G>A:p.Ala624=	coding	Benign/Likely_benign
9	36218272	G	C	G36218272C	GNE	NM_005476.7(GNE):c.1844C>G:p.Ser615Ter	coding	Pathogenic
9	36218380	C	G	C36218380G	GNE	NM_005476.7(GNE):c.1817-81G>C	noncoding	Benign
9	36219884	G	A	G36219884A	GNE	NM_005476.7(GNE):c.1770C>T:p.Tyr590=	coding	Benign/Likely_benign
9	36219884	G	T	G36219884T	GNE	NM_005476.7(GNE):c.1770C>A:p.Tyr590Ter	coding	Pathogenic
9	36219894	A	G	A36219894G	GNE	NM_005476.7(GNE):c.1760T>C:p.Ile587Thr	coding	Pathogenic/Likely_pathogenic
9	36219927	C	T	C36219927T	GNE	NM_005476.7(GNE):c.1727G>A:p.Gly576Glu	coding	Pathogenic
9	36219940	C	G	C36219940G	GNE	NM_005476.7(GNE):c.1714G>C:p.Val572Leu	coding	Pathogenic
9	36220137	T	C	T36220137C	GNE	NM_005476.7(GNE):c.1634-117A>G	noncoding	Benign
9	36222540	G	A	G36222540A	GNE	NM_005476.7(GNE):c.1633+237C>T	noncoding	Benign
9	36222652	C	G	C36222652G	GNE	NM_005476.7(GNE):c.1633+125G>C	noncoding	Benign
9	36222839	G	A	G36222839A	GNE	NM_005476.7(GNE):c.1571C>T:p.Ala524Val	coding	Pathogenic/Likely_pathogenic
9	36222942	T	A	T36222942A	GNE	NM_005476.7(GNE):c.1468A>T:p.Lys490Ter	coding	Pathogenic
9	36223657	G	A	G36223657A	GNE	NM_005476.7(GNE):c.1282-155C>T	noncoding	Benign
9	36227204	C	T	C36227204T	GNE	NM_005476.7(GNE):c.1281+44G>A	noncoding	Benign/Likely_benign
9	36227271	G	A	G36227271A	GNE	NM_005476.7(GNE):c.1258C>T:p.Arg420Ter	coding	Pathogenic
9	36227444	C	T	C36227444T	GNE	NM_005476.7(GNE):c.1085G>A:p.Gly362Glu	coding	Pathogenic
9	36228985	T	G	T36228985G	GNE	NM_005476.7(GNE):c.1070+36A>C	noncoding	Benign
9	36229381	C	T	C36229381T	GNE	NM_005476.7(GNE):c.983-273G>A	noncoding	Benign
9	36233993	A	T	A36233993T	GNE	NM_005476.7(GNE):c.909T>A:p.Cys303Ter	coding	Pathogenic
9	36234073	G	A	G36234073A	GNE	NM_005476.7(GNE):c.829C>T:p.Arg277Cys	coding	Pathogenic/Likely_pathogenic
9	36234105	C	T	C36234105T	GNE	NM_005476.7(GNE):c.797G>A:p.Arg266Gln	coding	Pathogenic
9	36234114	C	A	C36234114A	GNE	NM_005476.7(GNE):c.788G>T:p.Arg263Leu	coding	Pathogenic
9	36234115	G	A	G36234115A	GNE	NM_005476.7(GNE):c.787C>T:p.Arg263Ter	coding	Pathogenic
9	36236864	C	T	C36236864T	GNE	NM_005476.7(GNE):c.737G>A:p.Arg246Gln	coding	Pathogenic/Likely_pathogenic
9	36236865	G	A	G36236865A	GNE	NM_005476.7(GNE):c.736C>T:p.Arg246Trp	coding	Pathogenic
9	36236954	A	G	A36236954G	GNE	NM_005476.7(GNE):c.647T>C:p.Val216Ala	coding	Pathogenic/Likely_pathogenic
9	36236977	A	C	A36236977C	GNE	NM_005476.7(GNE):c.624T>G:p.Asp208Glu	coding	Benign/Likely_benign
9	36236986	T	C	T36236986C	GNE	NM_005476.7(GNE):c.617-2A>G	noncoding	Pathogenic
9	36237282	A	G	A36237282G	GNE	NM_005476.7(GNE):c.617-298T>C	noncoding	Benign
9	36245762	A	G	A36245762G	GNE	NM_005476.7(GNE):c.616+269T>C	noncoding	Benign
9	36246047	G	A	G36246047A	GNE	NM_005476.7(GNE):c.600C>T:p.Ile200=	coding	Benign
9	36246120	T	A	T36246120A	GNE	NM_005476.7(GNE):c.527A>T:p.Asp176Val	coding	Pathogenic/Likely_pathogenic
9	36246136	T	C	T36246136C	GNE	NM_005476.7(GNE):c.511A>G:p.Met171Val	coding	Pathogenic
9	36246163	G	A	G36246163A	GNE	NM_005476.7(GNE):c.484C>T:p.Arg162Cys	coding	Pathogenic/Likely_pathogenic
9	36246261	C	T	C36246261T	GNE	NM_005476.7(GNE):c.386G>A:p.Arg129Gln	coding	Pathogenic/Likely_pathogenic
9	36246472	G	A	G36246472A	GNE	NM_005476.7(GNE):c.175C>T:p.Arg59Ter	coding	Pathogenic
9	36246597	T	C	T36246597C	GNE	NM_005476.7(GNE):c.165-115A>G	noncoding	Benign
9	36249191	C	T	C36249191T	GNE	NM_005476.7(GNE):c.164+1G>A	noncoding	Pathogenic
9	36249318	C	G	C36249318G	GNE	NM_005476.7(GNE):c.38G>C:p.Cys13Ser	coding	Pathogenic
9	36249334	G	A	G36249334A	GNE	NM_005476.7(GNE):c.22C>T:p.Arg8Ter	coding	Pathogenic
9	36249351	T	C	T36249351C	GNE	NM_005476.7(GNE):c.5A>G:p.Glu2Gly	coding	Pathogenic/Likely_pathogenic
9	36249352	C	A	C36249352A	GNE	NM_005476.7(GNE):c.4G>T:p.Glu2Ter	coding	Pathogenic/Likely_pathogenic
9	36258343	C	T	C36258343T	GNE	NM_005476.7(GNE):c.-65G>A	coding	Benign/Likely_benign
9	36276860	A	G	A36276860G	GNE	NM_001128227.3(GNE):c.51+34T>C	noncoding	Benign
9	36276954	C	T	C36276954T	GNE	NM_001128227.3(GNE):c.-10G>A	coding	Benign/Likely_benign
9	36277174	C	T	C36277174T	GNE	NC_000009.12:g.36277174C>T	noncoding	Benign
9	36583645	A	G	A36583645G	MELK	NM_014791.4(MELK):c.77A>G:p.Lys26Arg	coding	Benign
9	36651822	G	A	G36651822A	MELK	NM_014791.4(MELK):c.998G>A:p.Arg333Lys	coding	Benign
9	36651867	C	T	C36651867T	MELK	NM_014791.4(MELK):c.1043C>T:p.Thr348Ile	coding	Benign
9	36657270	C	T	C36657270T	MELK	NM_014791.4(MELK):c.1083C>T:p.Thr361=	coding	Benign
9	36665391	A	G	A36665391G	MELK	NM_014791.4(MELK):c.1218A>G:p.Lys406=	coding	Benign
9	36671111	T	C	T36671111C	MELK	NM_014791.4(MELK):c.1619T>C:p.Val540Ala	coding	Benign
9	36882062	G	A	G36882062A	PAX5	NM_016734.3(PAX5):c.954C>T:p.His318=	coding	Benign
9	36882093	G	A	G36882093A	PAX5	NM_016734.3(PAX5):c.923C>T:p.Ala308Val	coding	Benign
9	37006497	C	T	C37006497T	PAX5	NM_016734.3(PAX5):c.451G>A:p.Val151Ile	coding	Benign
9	37034026	A	T	A37034026T	PAX5	NM_016734.3(PAX5):c.6T>A:p.Asp2Glu	coding	Benign
9	37422763	C	T	C37422763T	GRHPR	NM_012203.2(GRHPR):c.13C>T:p.Arg5Ter	coding	Pathogenic
9	37422766	C	T	C37422766T	GRHPR	NM_012203.2(GRHPR):c.16C>T:p.Leu6Phe	coding	Benign
9	37424843	A	G	A37424843G	GRHPR	NM_012203.2(GRHPR):c.84-2A>G	noncoding	Pathogenic
9	37424964	T	C	T37424964C	GRHPR	NM_012203.2(GRHPR):c.203T>C:p.Leu68Pro	coding	Pathogenic
9	37425994	G	T	G37425994T	GRHPR	NM_012203.2(GRHPR):c.287G>T:p.Arg96Leu	coding	Pathogenic
9	37426527	C	T	C37426527T	GRHPR	NM_012203.2(GRHPR):c.288-11C>T	noncoding	Benign
9	37426545	C	T	C37426545T	GRHPR	NM_012203.2(GRHPR):c.295C>T:p.Arg99Ter	coding	Pathogenic
9	37426607	A	G	A37426607G	GRHPR	NM_012203.2(GRHPR):c.357A>G:p.Leu119=	coding	Benign
9	37428557	G	A	G37428557A	GRHPR	NM_012203.2(GRHPR):c.478G>A:p.Gly160Arg	coding	Pathogenic
9	37428581	C	T	C37428581T	GRHPR	NM_012203.2(GRHPR):c.493+9C>T	noncoding	Benign/Likely_benign
9	37429732	G	A	G37429732A	GRHPR	NM_012203.2(GRHPR):c.494G>A:p.Gly165Asp	coding	Pathogenic/Likely_pathogenic
9	37429747	G	A	G37429747A	GRHPR	NM_012203.2(GRHPR):c.509G>A:p.Arg170Gln	coding	Benign/Likely_benign
9	37429750	G	A	G37429750A	GRHPR	NM_012203.2(GRHPR):c.512G>A:p.Arg171His	coding	Benign/Likely_benign
9	37429817	A	G	A37429817G	GRHPR	NM_012203.2(GRHPR):c.579A>G:p.Ala193=	coding	Benign
9	37430655	G	A	G37430655A	GRHPR	NM_012203.2(GRHPR):c.734+9G>A	noncoding	Benign
9	37432016	T	A	T37432016A	GRHPR	NM_012203.2(GRHPR):c.743T>A:p.Val248Asp	coding	Pathogenic
9	37436700	G	A	G37436700A	GRHPR	NM_012203.2(GRHPR):c.905G>A:p.Arg302His	coding	Pathogenic
9	37436729	A	G	A37436729G	GRHPR	NM_012203.2(GRHPR):c.934A>G:p.Asn312Asp	coding	Pathogenic
9	37436757	C	T	C37436757T	GRHPR	NM_012203.2(GRHPR):c.962C>T:p.Pro321Leu	coding	Benign/Likely_benign
9	37436758	G	A	G37436758A	GRHPR	NM_012203.2(GRHPR):c.963G>A:p.Pro321=	coding	Benign
9	37436760	T	C	T37436760C	GRHPR	NM_012203.2(GRHPR):c.965T>C:p.Met322Thr	coding	Pathogenic
9	37436760	T	G	T37436760G	GRHPR	NM_012203.2(GRHPR):c.965T>G:p.Met322Arg	coding	Pathogenic
9	37436928	A	G	A37436928G	GRHPR	NM_012203.2(GRHPR):c.*146A>G	noncoding	Benign
9	37518257	G	C	G37518257C	FBXO10	NM_012166.3(FBXO10):c.2382C>G:p.Leu794=	coding	Benign
9	37531993	G	A	G37531993A	FBXO10	NM_012166.3(FBXO10):c.1485C>T:p.Gly495=	coding	Benign
9	37537236	G	A	G37537236A	FBXO10	NM_012166.3(FBXO10):c.1293C>T:p.Leu431=	coding	Benign
9	37537479	G	A	G37537479A	FBXO10	NM_012166.3(FBXO10):c.1050C>T:p.Thr350=	coding	Benign
9	37537895	G	T	G37537895T	FBXO10	NM_012166.3(FBXO10):c.634C>A:p.His212Asn	coding	Benign
9	37744393	C	T	C37744393T	FRMPD1	NM_014907.3(FRMPD1):c.2361C>T:p.Pro787=	coding	Benign
9	37744914	C	T	C37744914T	FRMPD1	NM_014907.3(FRMPD1):c.2882C>T:p.Ala961Val	coding	Benign
9	37745307	G	A	G37745307A	FRMPD1	NM_014907.3(FRMPD1):c.3275G>A:p.Gly1092Glu	coding	Benign
9	37745440	C	T	C37745440T	FRMPD1	NM_014907.3(FRMPD1):c.3408C>T:p.Ser1136=	coding	Benign
9	37745443	G	A	G37745443A	FRMPD1	NM_014907.3(FRMPD1):c.3411G>A:p.Pro1137=	coding	Benign
9	37745542	C	T	C37745542T	FRMPD1	NM_014907.3(FRMPD1):c.3510C>T:p.Thr1170=	coding	Benign
9	37745681	G	A	G37745681A	FRMPD1	NM_014907.3(FRMPD1):c.3649G>A:p.Val1217Ile	coding	Benign
9	37745692	C	T	C37745692T	FRMPD1	NM_014907.3(FRMPD1):c.3660C>T:p.Ala1220=	coding	Benign
9	37780383	A	G	A37780383G	EXOSC3	NM_016042.4(EXOSC3):c.*296T>C	noncoding	Benign
9	37780482	G	A	G37780482A	EXOSC3	NM_016042.4(EXOSC3):c.*197C>T	noncoding	Benign
9	37780561	C	A	C37780561A	EXOSC3	NM_016042.4(EXOSC3):c.*118G>T	noncoding	Benign
9	37780795	A	G	A37780795G	EXOSC3	NM_016042.4(EXOSC3):c.712T>C:p.Trp238Arg	coding	Pathogenic
9	37780834	A	G	A37780834G	EXOSC3	NM_016042.4(EXOSC3):c.673T>C:p.Tyr225His	coding	Benign
9	37781894	C	T	C37781894T	EXOSC3	NM_016042.4(EXOSC3):c.626+92G>A	noncoding	Benign
9	37782041	C	A	C37782041A	EXOSC3	NM_016042.4(EXOSC3):c.571G>T:p.Gly191Cys	coding	Pathogenic
9	37782072	A	G	A37782072G	EXOSC3	NM_016042.4(EXOSC3):c.540T>C:p.Cys180=	coding	Benign/Likely_benign
9	37782114	C	T	C37782114T	EXOSC3	NM_016042.4(EXOSC3):c.498G>A:p.Gln166=	coding	Benign
9	37783973	C	G	C37783973G	EXOSC3	NM_016042.4(EXOSC3):c.415G>C:p.Ala139Pro	coding	Pathogenic
9	37783993	T	G	T37783993G	EXOSC3	NM_016042.4(EXOSC3):c.395A>C:p.Asp132Ala	coding	Pathogenic/Likely_pathogenic
9	37784953	C	G	C37784953G	EXOSC3	NM_016042.4(EXOSC3):c.92G>C:p.Gly31Ala	coding	Pathogenic
9	37785043	A	G	A37785043G	EXOSC3	NM_016042.4(EXOSC3):c.2T>C:p.Met1Thr	coding	Pathogenic
9	37785056	C	G	C37785056G	EXOSC3	NM_016042.4(EXOSC3):c.-12G>C	noncoding	Benign
9	37919842	G	A	G37919842A	SHB	NM_003028.3(SHB):c.1509C>T:p.Pro503=	coding	Benign
9	37919929	C	T	C37919929T	SHB	NM_003028.3(SHB):c.1422G>A:p.Pro474=	coding	Benign
9	38068457	G	A	G38068457A	SHB	NM_003028.3(SHB):c.189C>T:p.Phe63=	coding	Benign
9	38395931	C	T	C38395931T	ALDH1B1	NM_000692.5(ALDH1B1):c.183C>T:p.Thr61=	coding	Benign
9	38395943	T	C	T38395943C	ALDH1B1	NM_000692.5(ALDH1B1):c.195T>C:p.Ile65=	coding	Benign
9	38396005	C	T	C38396005T	ALDH1B1	NM_000692.5(ALDH1B1):c.257C>T:p.Ala86Val	coding	Benign
9	38396068	G	T	G38396068T	ALDH1B1	NM_000692.5(ALDH1B1):c.320G>T:p.Arg107Leu	coding	Benign
9	38396274	G	A	G38396274A	ALDH1B1	NM_000692.5(ALDH1B1):c.526G>A:p.Val176Ile	coding	Benign
9	38396375	G	A	G38396375A	ALDH1B1	NM_000692.5(ALDH1B1):c.627G>A:p.Lys209=	coding	Benign
9	38396505	G	A	G38396505A	ALDH1B1	NM_000692.5(ALDH1B1):c.757G>A:p.Val253Met	coding	Benign
9	38396531	C	T	C38396531T	ALDH1B1	NM_000692.5(ALDH1B1):c.783C>T:p.Thr261=	coding	Benign
9	38397047	G	C	G38397047C	ALDH1B1	NM_000692.5(ALDH1B1):c.1299G>C:p.Val433=	coding	Benign
9	38397086	G	A	G38397086A	ALDH1B1	NM_000692.5(ALDH1B1):c.1338G>A:p.Ala446=	coding	Benign
9	38575535	T	C	T38575535C	ANKRD18A	NM_147195.4(ANKRD18A):c.2905A>G:p.Ile969Val	coding	Benign
9	38575614	T	C	T38575614C	ANKRD18A	NM_147195.4(ANKRD18A):c.2826A>G:p.Thr942=	coding	Benign
9	38575615	G	A	G38575615A	ANKRD18A	NM_147195.4(ANKRD18A):c.2825C>T:p.Thr942Ile	coding	Benign
9	38577242	T	C	T38577242C	ANKRD18A	NM_147195.4(ANKRD18A):c.2552A>G:p.Gln851Arg	coding	Benign
9	41986277	T	C	T41986277C	CNTNAP3B	NM_001201380.3(CNTNAP3B):c.1368A>G:p.Val456=	coding	Benign
9	68378237	G	A	G68378237A	PGM5	NM_021965.4(PGM5):c.300G>A:p.Ser100=	coding	Benign
9	68780097	C	G	C68780097G	PABIR1	NM_138333.5(PABIR1):c.-68C>G	noncoding	Benign
9	69035776	G	A	G69035776A	FXN	NM_000144.5(FXN):c.-7G>A	noncoding	Benign
9	69035785	G	T	G69035785T	FXN	NM_000144.5(FXN):c.3G>T:p.Met1Ile	coding	Pathogenic
9	69035823	C	A	C69035823A	FXN	NM_000144.5(FXN):c.41C>A:p.Ala14Glu	coding	Benign
9	69035836	A	G	A69035836G	FXN	NM_000144.5(FXN):c.54A>G:p.Pro18=	coding	Benign
9	69035913	C	A	C69035913A	FXN	NM_000144.5(FXN):c.131C>A:p.Thr44Asn	coding	Benign
9	69046445	A	G	A69046445G	FXN	NM_000144.5(FXN):c.226A>G:p.Met76Val	coding	Benign
9	69053161	T	A	T69053161A	FXN	NM_000144.5(FXN):c.285T>A:p.Tyr95Ter	coding	Pathogenic
9	69053193	T	C	T69053193C	FXN	NM_000144.5(FXN):c.317T>C:p.Leu106Ser	coding	Pathogenic
9	69053193	T	G	T69053193G	FXN	NM_000144.5(FXN):c.317T>G:p.Leu106Ter	coding	Pathogenic
9	69064936	A	G	A69064936G	FXN	NM_000144.5(FXN):c.385-2A>G	noncoding	Pathogenic
9	69064942	G	T	G69064942T	FXN	NM_000144.5(FXN):c.389G>T:p.Gly130Val	coding	Pathogenic
9	69064991	C	G	C69064991G	FXN	NM_000144.5(FXN):c.438C>G:p.Asn146Lys	coding	Pathogenic
9	69065013	A	T	A69065013T	FXN	NM_000144.5(FXN):c.460A>T:p.Ile154Phe	coding	Pathogenic
9	69072755	A	G	A69072755G	FXN	NM_000144.5(FXN):c.626A>G:p.Asp209Gly	coding	Benign/Likely_benign
9	69174357	G	T	G69174357T	TJP2	NM_004817.4(TJP2):c.-16G>T	noncoding	Benign
9	69205204	G	C	G69205204C	TJP2	NM_004817.4(TJP2):c.61-7344G>C	coding	Benign
9	69205232	G	A	G69205232A	TJP2	NM_004817.4(TJP2):c.61-7316G>A	coding	Benign
9	69216337	A	C	A69216337C	TJP2	NM_004817.4(TJP2):c.115-2A>C	noncoding	Pathogenic
9	69216338	G	A	G69216338A	TJP2	NM_004817.4(TJP2):c.115-1G>A	noncoding	Pathogenic
9	69216367	T	C	T69216367C	TJP2	NM_004817.4(TJP2):c.143T>C:p.Val48Ala	coding	Pathogenic
9	69216482	T	C	T69216482C	TJP2	NM_004817.4(TJP2):c.239+19T>C	noncoding	Benign
9	69218314	G	A	G69218314A	TJP2	NM_004817.4(TJP2):c.297G>A:p.Ser99=	coding	Benign/Likely_benign
9	69218371	G	T	G69218371T	TJP2	NM_004817.4(TJP2):c.342+12G>T	noncoding	Benign
9	69220919	C	T	C69220919T	TJP2	NM_004817.4(TJP2):c.375C>T:p.Ala125=	coding	Benign
9	69220926	C	A	C69220926A	TJP2	NM_004817.4(TJP2):c.382C>A:p.Gln128Lys	coding	Benign
9	69221188	G	A	G69221188A	TJP2	NM_004817.4(TJP2):c.644G>A:p.Arg215His	coding	Benign
9	69221242	G	A	G69221242A	TJP2	NM_004817.4(TJP2):c.698G>A:p.Arg233Gln	coding	Benign/Likely_benign
9	69225351	C	T	C69225351T	TJP2	NM_004817.4(TJP2):c.1000C>T:p.Arg334Ter	coding	Pathogenic
9	69225480	C	A	C69225480A	TJP2	NM_004817.4(TJP2):c.1056+73C>A	noncoding	Benign
9	69226028	G	C	G69226028C	TJP2	NM_004817.4(TJP2):c.1063G>C:p.Gly355Arg	coding	Benign
9	69226056	C	T	C69226056T	TJP2	NM_004817.4(TJP2):c.1091C>T:p.Thr364Met	coding	Benign/Likely_benign
9	69226102	A	G	A69226102G	TJP2	NM_004817.4(TJP2):c.1137A>G:p.Leu379=	coding	Benign
9	69227788	C	T	C69227788T	TJP2	NM_004817.4(TJP2):c.1234C>T:p.Arg412Ter	coding	Pathogenic
9	69227846	C	G	C69227846G	TJP2	NM_004817.4(TJP2):c.1292C>G:p.Ser431Ter	coding	Pathogenic
9	69228011	C	T	C69228011T	TJP2	NM_004817.4(TJP2):c.1350C>T:p.Ser450=	coding	Benign
9	69228107	C	A	C69228107A	TJP2	NM_004817.4(TJP2):c.1446C>A:p.Asp482Glu	coding	Benign
9	69229208	G	A	G69229208A	TJP2	NM_004817.4(TJP2):c.1478G>A:p.Arg493Lys	coding	Benign
9	69234419	C	G	C69234419G	TJP2	NM_004817.4(TJP2):c.1672-20C>G	noncoding	Benign
9	69234438	G	A	G69234438A	TJP2	NM_004817.4(TJP2):c.1672-1G>A	noncoding	Pathogenic
9	69234464	T	A	T69234464A	TJP2	NM_004817.4(TJP2):c.1697T>A:p.Leu566Ter	coding	Pathogenic
9	69234538	C	T	C69234538T	TJP2	NM_004817.4(TJP2):c.1771C>T:p.Arg591Ter	coding	Pathogenic
9	69234548	G	T	G69234548T	TJP2	NM_004817.4(TJP2):c.1780+1G>T	coding	Pathogenic
9	69236141	C	T	C69236141T	TJP2	NM_004817.4(TJP2):c.1894C>T:p.Arg632Ter	coding	Pathogenic
9	69236164	C	T	C69236164T	TJP2	NM_004817.4(TJP2):c.1917C>T:p.Asp639=	coding	Benign
9	69236947	A	G	A69236947G	TJP2	NM_004817.4(TJP2):c.1992-2A>G	noncoding	Pathogenic
9	69236961	G	A	G69236961A	TJP2	NM_004817.4(TJP2):c.2004G>A:p.Met668Ile	coding	Benign
9	69236997	G	A	G69236997A	TJP2	NM_004817.4(TJP2):c.2040G>A:p.Gly680=	coding	Benign/Likely_benign
9	69237088	T	C	T69237088C	TJP2	NM_004817.4(TJP2):c.2131T>C:p.Ser711Pro	coding	Benign
9	69237094	A	G	A69237094G	TJP2	NM_004817.4(TJP2):c.2137A>G:p.Ser713Gly	coding	Benign
9	69237130	C	T	C69237130T	TJP2	NM_004817.4(TJP2):c.2173C>T:p.Arg725Ter	coding	Pathogenic
9	69237907	G	A	G69237907A	TJP2	NM_004817.4(TJP2):c.2209G>A:p.Gly737Ser	coding	Pathogenic
9	69237989	T	G	T69237989G	TJP2	NM_004817.4(TJP2):c.2275+16T>G	noncoding	Benign
9	69238787	C	T	C69238787T	TJP2	NM_004817.4(TJP2):c.2353C>T:p.Gln785Ter	coding	Pathogenic
9	69239948	A	G	A69239948G	TJP2	NM_004817.4(TJP2):c.2367A>G:p.Ala789=	coding	Benign
9	69240090	C	T	C69240090T	TJP2	NM_004817.4(TJP2):c.2509C>T:p.Arg837Ter	coding	Pathogenic
9	69246759	A	G	A69246759G	TJP2	NM_004817.4(TJP2):c.2636A>G:p.Gln879Arg	coding	Benign/Likely_benign
9	69246769	G	A	G69246769A	TJP2	NM_004817.4(TJP2):c.2646G>A:p.Ala882=	coding	Benign/Likely_benign
9	69248011	G	T	G69248011T	TJP2	NM_004817.4(TJP2):c.2668-1G>T	noncoding	Pathogenic
9	69248035	C	T	C69248035T	TJP2	NM_004817.4(TJP2):c.2691C>T:p.Pro897=	coding	Benign/Likely_benign
9	69248059	C	T	C69248059T	TJP2	NM_004817.4(TJP2):c.2715C>T:p.Thr905=	coding	Benign
9	69248071	G	A	G69248071A	TJP2	NM_004817.4(TJP2):c.2727G>A:p.Ala909=	coding	Benign
9	69248122	C	T	C69248122T	TJP2	NM_004817.4(TJP2):c.2778C>T:p.Asp926=	coding	Benign/Likely_benign
9	69248154	T	C	T69248154C	TJP2	NM_004817.4(TJP2):c.2810T>C:p.Leu937Pro	coding	Benign
9	69248319	A	G	A69248319G	TJP2	NM_004817.4(TJP2):c.2880+95A>G	coding	Benign
9	69249402	C	T	C69249402T	TJP2	NM_004817.4(TJP2):c.2908C>T:p.Arg970Ter	coding	Pathogenic
9	69251016	G	A	G69251016A	TJP2	NM_004817.4(TJP2):c.2992-19G>A	noncoding	Benign
9	69251027	C	T	C69251027T	TJP2	NM_004817.4(TJP2):c.2992-8C>T	noncoding	Benign/Likely_benign
9	69251072	C	T	C69251072T	TJP2	NM_004817.4(TJP2):c.3029C>T:p.Ser1010Phe	coding	Benign
9	69252835	T	C	T69252835C	TJP2	NM_004817.4(TJP2):c.3342T>C:p.His1114=	coding	Benign/Likely_benign
9	69252945	A	G	A69252945G	TJP2	NM_004817.4(TJP2):c.3407+45A>G	noncoding	Benign
9	69254296	G	A	G69254296A	TJP2	NM_004817.4(TJP2):c.3495G>A:p.Glu1165=	coding	Benign/Likely_benign
9	69375729	C	T	C69375729T	FAM189A2	NM_001127608.2(FAM189A2):c.124-7C>T	noncoding	Benign
9	69377487	T	C	T69377487C	FAM189A2	NM_001127608.2(FAM189A2):c.360+10T>C	noncoding	Benign
9	69384020	C	T	C69384020T	FAM189A2	NM_001127608.2(FAM189A2):c.698C>T:p.Thr233Ile	coding	Benign
9	69385788	A	T	A69385788T	FAM189A2	NM_001127608.2(FAM189A2):c.704-7A>T	noncoding	Benign
9	69391687	C	T	C69391687T	FAM189A2	NM_001127608.2(FAM189A2):c.1236C>T:p.Cys412=	coding	Benign
9	69516170	C	T	C69516170T	APBA1	NM_001163.4(APBA1):c.1041G>A:p.Ser347=	coding	Benign
9	69856659	C	T	C69856659T	C9orf135	NM_001010940.3(C9orf135):c.366C>T:p.Ser122=	coding	Benign
9	69857903	T	C	T69857903C	C9orf135	NM_001010940.3(C9orf135):c.381-6T>C	noncoding	Benign
9	70168752	C	A	C70168752A	MAMDC2	NM_153267.5(MAMDC2):c.1455C>A:p.Ala485=	coding	Benign
9	70170561	C	T	C70170561T	MAMDC2	NM_153267.5(MAMDC2):c.1581C>T:p.Ser527=	coding	Benign
9	70218559	G	A	G70218559A	MAMDC2	NM_153267.5(MAMDC2):c.1874G>A:p.Arg625Gln	coding	Benign
9	70225775	T	C	T70225775C	MAMDC2	NM_153267.5(MAMDC2):c.1937T>C:p.Val646Ala	coding	Benign
9	70264388	G	A	G70264388A	SMC5	NM_015110.4(SMC5):c.270G>A:p.Val90=	coding	Benign
9	70318682	C	T	C70318682T	SMC5	NM_015110.4(SMC5):c.1975C>T:p.Leu659=	coding	Benign
9	70318889	A	G	A70318889G	SMC5	NM_015110.4(SMC5):c.2076A>G:p.Gln692=	coding	Benign
9	70323530	G	A	G70323530A	SMC5	NM_015110.4(SMC5):c.2198G>A:p.Arg733Gln	coding	Benign
9	70323612	G	A	G70323612A	SMC5	NM_015110.4(SMC5):c.2274+6G>A	noncoding	Benign
9	70598443	C	T	C70598443T	TRPM3	NM_001366145.2(TRPM3):c.3024G>A:p.Pro1008=	coding	Benign
9	70810048	G	A	G70810048A	MIR204	NM_001366145.2(TRPM3):c.973+17799C>T	coding	Pathogenic
9	71704645	C	T	C71704645T	CEMIP2	NM_013390.3(CEMIP2):c.3144G>A:p.Trp1048Ter	coding	Pathogenic
9	71734841	C	T	C71734841T	CEMIP2	NM_013390.3(CEMIP2):c.1358G>A:p.Cys453Tyr	coding	Pathogenic
9	72521873	G	A	G72521873A	TMC1	NM_138691.2(TMC1):c.-468G>A	noncoding	Benign
9	72578000	C	A	C72578000A	TMC1	NM_138691.2(TMC1):c.-329C>A	noncoding	Benign
9	72616454	A	G	A72616454G	TMC1	NM_138691.2(TMC1):c.-219A>G	noncoding	Benign
9	72648665	G	T	G72648665T	TMC1	NM_138691.2(TMC1):c.16+1G>T	coding	Pathogenic
9	72648758	T	G	T72648758G	TMC1	NM_138691.2(TMC1):c.16+94T>G	noncoding	Benign
9	72688737	C	T	C72688737T	TMC1	NM_138691.2(TMC1):c.45C>T:p.Asp15=	coding	Benign
9	72694578	C	T	C72694578T	TMC1	NM_138691.3(TMC1):c.100C>T:p.Arg34Ter	coding	Pathogenic
9	72694715	G	A	G72694715A	TMC1	NM_138691.3(TMC1):c.236+1G>A	coding	Pathogenic
9	72700522	G	A	G72700522A	TMC1	NM_138691.2(TMC1):c.241G>A:p.Glu81Lys	coding	Benign
9	72742520	T	C	T72742520C	TMC1	NM_138691.2(TMC1):c.530T>C:p.Ile177Thr	coding	Pathogenic
9	72754839	C	T	C72754839T	TMC1	NM_138691.3(TMC1):c.696C>T:p.Ala232=	coding	Benign
9	72788337	A	C	A72788337C	TMC1	NM_138691.2(TMC1):c.885-2A>C	noncoding	Pathogenic
9	72788399	G	A	G72788399A	TMC1	NM_138691.2(TMC1):c.945G>A:p.Trp315Ter	coding	Pathogenic
9	72789236	C	G	C72789236G	TMC1	NM_138691.2(TMC1):c.1143C>G:p.Tyr381Ter	coding	Pathogenic
9	72789258	C	T	C72789258T	TMC1	NM_138691.2(TMC1):c.1165C>T:p.Arg389Ter	coding	Pathogenic
9	72789302	G	A	G72789302A	TMC1	NM_138691.2(TMC1):c.1209G>A:p.Trp403Ter	coding	Pathogenic
9	72789319	T	C	T72789319C	TMC1	NM_138691.2(TMC1):c.1224+2T>C	noncoding	Pathogenic
9	72791914	T	A	T72791914A	TMC1	NM_138691.2(TMC1):c.1253T>A:p.Met418Lys	coding	Pathogenic
9	72791920	G	A	G72791920A	TMC1	NM_138691.2(TMC1):c.1259G>A:p.Cys420Tyr	coding	Pathogenic
9	72792243	T	C	T72792243C	TMC1	NM_138691.2(TMC1):c.1457T>C:p.Met486Thr	coding	Benign/Likely_benign
9	72792318	C	T	C72792318T	TMC1	NM_138691.2(TMC1):c.1532C>T:p.Pro511Leu	coding	Pathogenic
9	72792320	C	T	C72792320T	TMC1	NM_138691.2(TMC1):c.1534C>T:p.Arg512Ter	coding	Pathogenic
9	72792329	T	C	T72792329C	TMC1	NM_138691.2(TMC1):c.1543T>C:p.Cys515Arg	coding	Pathogenic
9	72805491	G	A	G72805491A	TMC1	NM_138691.2(TMC1):c.1676G>A:p.Trp559Ter	coding	Pathogenic
9	72805492	G	A	G72805492A	TMC1	NM_138691.2(TMC1):c.1677G>A:p.Trp559Ter	coding	Pathogenic
9	72816160	C	T	C72816160T	TMC1	NM_138691.2(TMC1):c.1713C>T:p.Phe571=	coding	Benign/Likely_benign
9	72816161	G	A	G72816161A	TMC1	NM_138691.2(TMC1):c.1714G>A:p.Asp572Asn	coding	Pathogenic/Likely_pathogenic
9	72816161	G	C	G72816161C	TMC1	NM_138691.2(TMC1):c.1714G>C:p.Asp572His	coding	Pathogenic
9	72816175	C	G	C72816175G	TMC1	NM_138691.2(TMC1):c.1728C>G:p.Asn576Lys	coding	Pathogenic
9	72821017	T	C	T72821017C	TMC1	NM_138691.2(TMC1):c.1939T>C:p.Ser647Pro	coding	Pathogenic
9	72821038	A	G	A72821038G	TMC1	NM_138691.2(TMC1):c.1960A>G:p.Met654Val	coding	Pathogenic
9	72826823	C	T	C72826823T	TMC1	NM_138691.2(TMC1):c.2004-46C>T	noncoding	Benign
9	72830640	G	T	G72830640T	TMC1	NM_138691.2(TMC1):c.2218G>T:p.Glu740Ter	coding	Pathogenic
9	72911950	C	A	C72911950A	ALDH1A1	NM_000689.5(ALDH1A1):c.1200+8G>T	noncoding	Benign
9	72925477	G	T	G72925477T	ALDH1A1	NM_000689.5(ALDH1A1):c.633+7C>A	noncoding	Benign
9	72927164	A	T	A72927164T	ALDH1A1	NM_000689.5(ALDH1A1):c.456T>A:p.Phe152Leu	coding	Benign
9	73158733	G	T	G73158733T	ANXA1	NM_000700.3(ANXA1):c.105G>T:p.Ala35=	coding	Benign
9	73163535	A	G	A73163535G	ANXA1	NM_000700.3(ANXA1):c.612+3A>G	noncoding	Benign
9	73165139	G	A	G73165139A	ANXA1	NM_000700.3(ANXA1):c.636G>A:p.Arg212=	coding	Benign
9	74630349	C	T	C74630349T	RORB	NM_006914.4(RORB):c.75C>T:p.Ile25=	coding	Benign
9	74634755	T	C	T74634755C	RORB	NM_006914.4(RORB):c.218T>C:p.Leu73Pro	coding	Pathogenic
9	74642562	C	T	C74642562T	RORB	NM_006914.4(RORB):c.384C>T:p.Asn128=	coding	Benign
9	74660619	C	T	C74660619T	RORB	NM_006914.4(RORB):c.640C>T:p.Arg214Ter	coding	Pathogenic
9	74724375	C	T	C74724375T	TRPM6	NM_017662.5(TRPM6):c.*238G>A	noncoding	Benign
9	74724649	C	T	C74724649T	TRPM6	NM_017662.5(TRPM6):c.6033G>A:p.Thr2011=	coding	Benign
9	74739387	T	C	T74739387C	TRPM6	NM_017662.5(TRPM6):c.5550A>G:p.Gln1850=	coding	Benign
9	74739786	A	G	A74739786G	TRPM6	NM_017662.5(TRPM6):c.5424T>C:p.Pro1808=	coding	Benign
9	74752287	T	C	T74752287C	TRPM6	NM_017662.5(TRPM6):c.4988A>G:p.Gln1663Arg	coding	Benign/Likely_benign
9	74761717	A	G	A74761717G	TRPM6	NM_017662.5(TRPM6):c.4764T>C:p.Asn1588=	coding	Benign
9	74761731	T	C	T74761731C	TRPM6	NM_017662.5(TRPM6):c.4750A>G:p.Lys1584Glu	coding	Benign
9	74761774	T	A	T74761774A	TRPM6	NM_017662.5(TRPM6):c.4707A>T:p.Ala1569=	coding	Benign
9	74762450	G	A	G74762450A	TRPM6	NM_017662.5(TRPM6):c.4221C>T:p.His1407=	coding	Benign
9	74762494	C	T	C74762494T	TRPM6	NM_017662.5(TRPM6):c.4177G>A:p.Val1393Ile	coding	Benign
9	74762850	T	C	T74762850C	TRPM6	NM_017662.5(TRPM6):c.3821A>G:p.Gln1274Arg	coding	Benign
9	74771725	G	T	G74771725T	TRPM6	NM_017662.5(TRPM6):c.3514C>A:p.Arg1172=	coding	Benign
9	74771753	C	T	C74771753T	TRPM6	NM_017662.5(TRPM6):c.3486G>A:p.Met1162Ile	coding	Benign
9	74775929	G	T	G74775929T	TRPM6	NM_017662.5(TRPM6):c.3357C>A:p.Cys1119Ter	coding	Pathogenic
9	74782398	T	C	T74782398C	TRPM6	NM_017662.5(TRPM6):c.3173A>G:p.Tyr1058Cys	coding	Pathogenic
9	74785982	C	T	C74785982T	TRPM6	NM_017662.5(TRPM6):c.2811G>A:p.Ala937=	coding	Benign
9	74788613	C	T	C74788613T	TRPM6	NM_017662.5(TRPM6):c.2667+1G>A	noncoding	Pathogenic
9	74788632	A	G	A74788632G	TRPM6	NM_017662.5(TRPM6):c.2649T>C:p.Ala883=	coding	Benign/Likely_benign
9	74792720	C	T	C74792720T	TRPM6	NM_017662.5(TRPM6):c.2442G>A:p.Gln814=	coding	Benign
9	74792734	G	A	G74792734A	TRPM6	NM_017662.5(TRPM6):c.2428C>T:p.Leu810=	coding	Benign/Likely_benign
9	74796796	A	T	A74796796T	TRPM6	NM_017662.5(TRPM6):c.2336T>A:p.Phe779Tyr	coding	Benign
9	74800368	A	C	A74800368C	TRPM6	NM_017662.5(TRPM6):c.2124T>G:p.Leu708=	coding	Benign
9	74801897	C	T	C74801897T	TRPM6	NM_017662.5(TRPM6):c.2009+1G>A	noncoding	Pathogenic
9	74802035	A	G	A74802035G	TRPM6	NM_017662.5(TRPM6):c.1872T>C:p.Ala624=	coding	Benign
9	74802056	C	T	C74802056T	TRPM6	NM_017662.5(TRPM6):c.1851G>A:p.Leu617=	coding	Benign
9	74802138	G	C	G74802138C	TRPM6	NM_017662.5(TRPM6):c.1769C>G:p.Ser590Ter	coding	Pathogenic
9	74803886	G	A	G74803886A	TRPM6	NM_017662.5(TRPM6):c.1639C>T:p.His547Tyr	coding	Benign
9	74810862	C	T	C74810862T	TRPM6	NM_017662.5(TRPM6):c.1450G>A:p.Gly484Arg	coding	Benign
9	74812322	G	A	G74812322A	TRPM6	NM_017662.5(TRPM6):c.1420C>T:p.Arg474Ter	coding	Pathogenic
9	74816886	A	G	A74816886G	TRPM6	NM_017662.5(TRPM6):c.1207+6T>C	noncoding	Benign
9	74820424	C	A	C74820424A	TRPM6	NM_017662.5(TRPM6):c.1014G>T:p.Met338Ile	coding	Benign/Likely_benign
9	74821664	C	G	C74821664G	TRPM6	NM_017662.5(TRPM6):c.1010+5G>C	noncoding	Pathogenic
9	74821725	G	A	G74821725A	TRPM6	NM_017662.5(TRPM6):c.954C>T:p.Gly318=	coding	Benign
9	74834034	A	G	A74834034G	TRPM6	NM_017662.5(TRPM6):c.633T>C:p.Gly211=	coding	Benign/Likely_benign
9	74840057	C	T	C74840057T	TRPM6	NM_017662.5(TRPM6):c.511G>A:p.Gly171Arg	coding	Benign/Likely_benign
9	74840146	G	A	G74840146A	TRPM6	NM_017662.5(TRPM6):c.422C>T:p.Ser141Leu	coding	Pathogenic
9	74840178	C	T	C74840178T	TRPM6	NM_017662.5(TRPM6):c.390G>A:p.Glu130=	coding	Benign
9	74842228	T	A	T74842228A	TRPM6	NM_017662.5(TRPM6):c.268A>T:p.Ser90Cys	coding	Benign/Likely_benign
9	74842330	G	A	G74842330A	TRPM6	NM_017662.5(TRPM6):c.166C>T:p.Arg56Ter	coding	Pathogenic
9	74998623	A	G	A74998623G	CARNMT1	NM_152420.3(CARNMT1):c.885T>C:p.Asp295=	coding	Benign
9	75891265	C	A	C75891265A	PCSK5	NM_001372043.1(PCSK5):c.84C>A:p.Pro28=	coding	Benign
9	75891316	G	A	G75891316A	PCSK5	NM_001372043.1(PCSK5):c.135G>A:p.Gly45=	coding	Benign
9	76023773	C	T	C76023773T	PCSK5	NM_001372043.1(PCSK5):c.447C>T:p.Asp149=	coding	Benign
9	76068039	C	T	C76068039T	PCSK5	NM_001372043.1(PCSK5):c.717C>T:p.Ile239=	coding	Benign
9	76107298	G	A	G76107298A	PCSK5	NM_001372043.1(PCSK5):c.1155G>A:p.Thr385=	coding	Benign
9	76159009	G	A	G76159009A	PCSK5	NM_001372043.1(PCSK5):c.1457G>A:p.Arg486His	coding	Benign
9	76175059	G	A	G76175059A	PCSK5	NM_001372043.1(PCSK5):c.1830G>A:p.Pro610=	coding	Benign
9	76239117	T	A	T76239117A	PCSK5	NM_001372043.1(PCSK5):c.3025T>A:p.Phe1009Ile	coding	Benign
9	76296825	G	A	G76296825A	PCSK5	NM_001372043.1(PCSK5):c.3483G>A:p.Val1161=	coding	Benign
9	76308638	C	T	C76308638T	PCSK5	NM_001372043.1(PCSK5):c.3605-7C>T	noncoding	Benign
9	76308722	C	T	C76308722T	PCSK5	NM_001372043.1(PCSK5):c.3682C>T:p.Pro1228Ser	coding	Benign
9	76321577	A	G	A76321577G	PCSK5	NM_001372043.1(PCSK5):c.4040A>G:p.Lys1347Arg	coding	Benign
9	76328112	G	A	G76328112A	PCSK5	NM_001372043.1(PCSK5):c.4443G>A:p.Lys1481=	coding	Benign
9	76328123	C	T	C76328123T	PCSK5	NM_001372043.1(PCSK5):c.4454C>T:p.Ser1485Phe	coding	Benign
9	76338237	G	A	G76338237A	PCSK5	NM_001372043.1(PCSK5):c.4756G>A:p.Ala1586Thr	coding	Benign
9	76503084	T	C	T76503084C	GCNT1	NM_001490.5(GCNT1):c.703T>C:p.Leu235=	coding	Benign
9	76655510	A	C	A76655510C	PRUNE2	NM_015225.3(PRUNE2):c.8277-8T>G	noncoding	Benign
9	76703397	G	A	G76703397A	PRUNE2	NM_015225.3(PRUNE2):c.8216C>T:p.Thr2739Met	coding	Benign
9	76703486	C	G	C76703486G	PRUNE2	NM_015225.3(PRUNE2):c.8127G>C:p.Pro2709=	coding	Benign
9	76703879	A	G	A76703879G	PRUNE2	NM_015225.3(PRUNE2):c.7734T>C:p.Tyr2578=	coding	Benign
9	76703950	G	T	G76703950T	PRUNE2	NM_015225.3(PRUNE2):c.7663C>A:p.Arg2555Ser	coding	Benign
9	76704864	C	T	C76704864T	PRUNE2	NM_015225.3(PRUNE2):c.7410G>A:p.Pro2470=	coding	Benign
9	76705523	T	G	T76705523G	PRUNE2	NM_015225.3(PRUNE2):c.6751A>C:p.Ile2251Leu	coding	Benign
9	76706075	C	T	C76706075T	PRUNE2	NM_015225.3(PRUNE2):c.6199G>A:p.Ala2067Thr	coding	Benign
9	76706181	T	C	T76706181C	PRUNE2	NM_015225.3(PRUNE2):c.6093A>G:p.Pro2031=	coding	Benign
9	76706345	C	T	C76706345T	PRUNE2	NM_015225.3(PRUNE2):c.5929G>A:p.Ala1977Thr	coding	Benign
9	76707219	T	C	T76707219C	PRUNE2	NM_015225.3(PRUNE2):c.5055A>G:p.Ser1685=	coding	Benign
9	76707845	C	T	C76707845T	PRUNE2	NM_015225.3(PRUNE2):c.4429G>A:p.Val1477Met	coding	Benign
9	76709061	G	T	G76709061T	PRUNE2	NM_015225.3(PRUNE2):c.3213C>A:p.Val1071=	coding	Benign
9	76709862	A	G	A76709862G	PRUNE2	NM_015225.3(PRUNE2):c.2412T>C:p.Gly804=	coding	Benign
9	76710655	T	G	T76710655G	PRUNE2	NM_015225.3(PRUNE2):c.1619A>C:p.Asp540Ala	coding	Benign
9	76854158	C	T	C76854158T	PRUNE2	NM_015225.3(PRUNE2):c.87G>A:p.Ser29=	coding	Benign
9	77177522	G	C	G77177522C	VPS13A	NM_015186.3(VPS13A):c.-183G>C	noncoding	Benign
9	77177524	G	A	G77177524A	VPS13A	NM_015186.3(VPS13A):c.-181G>A	noncoding	Benign
9	77199938	T	C	T77199938C	VPS13A	NM_033305.3(VPS13A):c.101-7T>C	noncoding	Benign/Likely_benign
9	77205353	T	C	T77205353C	VPS13A	NM_033305.3(VPS13A):c.228T>C:p.Thr76=	coding	Benign
9	77205394	T	A	T77205394A	VPS13A	NM_033305.3(VPS13A):c.269T>A:p.Ile90Lys	coding	Pathogenic
9	77206031	C	T	C77206031T	VPS13A	NM_033305.3(VPS13A):c.337C>T:p.Gln113Ter	coding	Pathogenic
9	77210676	G	A	G77210676A	VPS13A	NM_033305.3(VPS13A):c.555+1G>A	coding	Pathogenic
9	77213001	T	C	T77213001C	VPS13A	NM_033305.3(VPS13A):c.588T>C:p.His196=	coding	Benign
9	77213240	C	T	C77213240T	VPS13A	NM_033305.3(VPS13A):c.622C>T:p.Arg208Ter	coding	Pathogenic
9	77219998	C	T	C77219998T	VPS13A	NM_033305.3(VPS13A):c.799C>T:p.Arg267Ter	coding	Pathogenic
9	77220346	A	T	A77220346T	VPS13A	NM_033305.3(VPS13A):c.952A>T:p.Lys318Ter	coding	Pathogenic
9	77221215	A	G	A77221215G	VPS13A	NM_033305.3(VPS13A):c.1020A>G:p.Glu340=	coding	Benign
9	77221303	A	T	A77221303T	VPS13A	NM_033305.3(VPS13A):c.1108A>T:p.Lys370Ter	coding	Pathogenic
9	77226546	G	A	G77226546A	VPS13A	NM_033305.3(VPS13A):c.1305G>A:p.Trp435Ter	coding	Pathogenic
9	77238164	T	C	T77238164C	VPS13A	NM_033305.3(VPS13A):c.1758T>C:p.Ala586=	coding	Benign/Likely_benign
9	77250183	A	G	A77250183G	VPS13A	NM_033305.3(VPS13A):c.2124A>G:p.Ser708=	coding	Benign/Likely_benign
9	77250208	C	T	C77250208T	VPS13A	NM_033305.3(VPS13A):c.2149C>T:p.Gln717Ter	coding	Pathogenic
9	77252255	C	T	C77252255T	VPS13A	NM_033305.3(VPS13A):c.2191C>T:p.Arg731Ter	coding	Pathogenic
9	77260188	A	G	A77260188G	VPS13A	NM_033305.3(VPS13A):c.2391A>G:p.Pro797=	coding	Benign
9	77273308	C	G	C77273308G	VPS13A	NM_033305.3(VPS13A):c.2456C>G:p.Ser819Ter	coding	Pathogenic
9	77276090	T	C	T77276090C	VPS13A	NM_033305.3(VPS13A):c.2693T>C:p.Val898Ala	coding	Benign
9	77276115	A	G	A77276115G	VPS13A	NM_033305.3(VPS13A):c.2718A>G:p.Val906=	coding	Benign
9	77276145	A	G	A77276145G	VPS13A	NM_033305.3(VPS13A):c.2748A>G:p.Glu916=	coding	Benign
9	77281872	A	G	A77281872G	VPS13A	NM_033305.3(VPS13A):c.2910A>G:p.Glu970=	coding	Benign
9	77281915	C	T	C77281915T	VPS13A	NM_033305.3(VPS13A):c.2953C>T:p.Gln985Ter	coding	Pathogenic
9	77281931	G	A	G77281931A	VPS13A	NM_033305.3(VPS13A):c.2964+5G>A	noncoding	Benign/Likely_benign
9	77281939	A	G	A77281939G	VPS13A	NM_033305.3(VPS13A):c.2964+13A>G	noncoding	Benign
9	77282201	G	A	G77282201A	VPS13A	NM_033305.3(VPS13A):c.3045G>A:p.Pro1015=	coding	Benign
9	77282234	T	G	T77282234G	VPS13A	NM_033305.3(VPS13A):c.3078T>G:p.Thr1026=	coding	Benign
9	77282264	T	C	T77282264C	VPS13A	NM_033305.3(VPS13A):c.3108T>C:p.Ile1036=	coding	Benign
9	77283393	C	T	C77283393T	VPS13A	NM_033305.3(VPS13A):c.3157C>T:p.Gln1053Ter	coding	Pathogenic
9	77283420	C	T	C77283420T	VPS13A	NM_033305.3(VPS13A):c.3184C>T:p.Gln1062Ter	coding	Pathogenic
9	77293357	G	A	G77293357A	VPS13A	NM_033305.3(VPS13A):c.3356G>A:p.Gly1119Glu	coding	Benign/Likely_benign
9	77295679	C	A	C77295679A	VPS13A	NM_033305.3(VPS13A):c.3645C>A:p.Ala1215=	coding	Benign
9	77295838	A	C	A77295838C	VPS13A	NM_033305.3(VPS13A):c.3804A>C:p.Arg1268=	coding	Benign
9	77302900	T	C	T77302900C	VPS13A	NM_033305.3(VPS13A):c.3813-15T>C	noncoding	Benign
9	77302919	C	T	C77302919T	VPS13A	NM_033305.3(VPS13A):c.3817C>T:p.Arg1273Ter	coding	Pathogenic
9	77302991	C	T	C77302991T	VPS13A	NM_033305.3(VPS13A):c.3889C>T:p.Arg1297Ter	coding	Pathogenic
9	77308025	C	T	C77308025T	VPS13A	NM_033305.3(VPS13A):c.4041C>T:p.Ala1347=	coding	Benign
9	77314663	C	T	C77314663T	VPS13A	NM_033305.3(VPS13A):c.4411C>T:p.Arg1471Ter	coding	Pathogenic
9	77315309	G	A	G77315309A	VPS13A	NM_033305.3(VPS13A):c.4469G>A:p.Arg1490Lys	coding	Benign
9	77315349	A	G	A77315349G	VPS13A	NM_033305.3(VPS13A):c.4509A>G:p.Gln1503=	coding	Benign
9	77317660	C	T	C77317660T	VPS13A	NM_033305.3(VPS13A):c.4918C>T:p.Gln1640Ter	coding	Pathogenic
9	77317669	G	A	G77317669A	VPS13A	NM_033305.3(VPS13A):c.4927G>A:p.Asp1643Asn	coding	Benign
9	77317699	G	A	G77317699A	VPS13A	NM_033305.3(VPS13A):c.4956+1G>A	coding	Pathogenic
9	77318462	T	C	T77318462C	VPS13A	NM_033305.3(VPS13A):c.5184T>C:p.Ser1728=	coding	Benign
9	77321192	C	T	C77321192T	VPS13A	NM_033305.3(VPS13A):c.5439C>T:p.Ala1813=	coding	Benign
9	77321499	A	G	A77321499G	VPS13A	NM_033305.3(VPS13A):c.5583A>G:p.Thr1861=	coding	Benign
9	77321510	C	T	C77321510T	VPS13A	NM_033305.3(VPS13A):c.5594C>T:p.Thr1865Ile	coding	Benign
9	77321541	A	G	A77321541G	VPS13A	NM_033305.3(VPS13A):c.5625A>G:p.Leu1875=	coding	Benign
9	77321589	G	A	G77321589A	VPS13A	NM_033305.3(VPS13A):c.5673G>A:p.Ser1891=	coding	Benign
9	77321663	G	A	G77321663A	VPS13A	NM_033305.3(VPS13A):c.5747G>A:p.Ser1916Asn	coding	Benign
9	77321677	C	T	C77321677T	VPS13A	NM_033305.3(VPS13A):c.5761C>T:p.Arg1921Ter	coding	Pathogenic
9	77321718	A	G	A77321718G	VPS13A	NM_033305.3(VPS13A):c.5802A>G:p.Leu1934=	coding	Benign
9	77323059	T	C	T77323059C	VPS13A	NM_033305.3(VPS13A):c.5831-8T>C	noncoding	Benign/Likely_benign
9	77323153	G	A	G77323153A	VPS13A	NM_033305.3(VPS13A):c.5917G>A:p.Val1973Ile	coding	Benign/Likely_benign
9	77323215	C	T	C77323215T	VPS13A	NM_033305.3(VPS13A):c.5979C>T:p.Arg1993=	coding	Benign/Likely_benign
9	77332045	C	T	C77332045T	VPS13A	NM_033305.3(VPS13A):c.6027C>T:p.Tyr2009=	coding	Benign
9	77332057	C	A	C77332057A	VPS13A	NM_033305.3(VPS13A):c.6039C>A:p.Thr2013=	coding	Benign/Likely_benign
9	77332112	C	T	C77332112T	VPS13A	NM_033305.3(VPS13A):c.6094C>T:p.Arg2032Ter	coding	Pathogenic
9	77337248	C	T	C77337248T	VPS13A	NM_033305.3(VPS13A):c.6096-7C>T	noncoding	Benign/Likely_benign
9	77337499	C	T	C77337499T	VPS13A	NM_033305.3(VPS13A):c.6340C>T:p.Arg2114Ter	coding	Pathogenic
9	77337517	A	T	A77337517T	VPS13A	NM_033305.3(VPS13A):c.6358A>T:p.Lys2120Ter	coding	Pathogenic
9	77337552	A	T	A77337552T	VPS13A	NM_033305.3(VPS13A):c.6378+15A>T	noncoding	Benign
9	77339547	A	G	A77339547G	VPS13A	NM_033305.3(VPS13A):c.6410A>G:p.Glu2137Gly	coding	Benign
9	77339629	T	C	T77339629C	VPS13A	NM_033305.3(VPS13A):c.6492T>C:p.Asp2164=	coding	Benign
9	77339718	T	G	T77339718G	VPS13A	NM_033305.3(VPS13A):c.6581T>G:p.Leu2194Ter	coding	Pathogenic
9	77339827	C	T	C77339827T	VPS13A	NM_033305.3(VPS13A):c.6690C>T:p.Asp2230=	coding	Benign
9	77340429	G	A	G77340429A	VPS13A	NM_033305.3(VPS13A):c.6905G>A:p.Ser2302Asn	coding	Benign
9	77344179	T	C	T77344179C	VPS13A	NM_033305.3(VPS13A):c.7053T>C:p.Ala2351=	coding	Benign
9	77344281	G	A	G77344281A	VPS13A	NM_033305.3(VPS13A):c.7155G>A:p.Glu2385=	coding	Benign
9	77353445	A	G	A77353445G	VPS13A	NM_033305.3(VPS13A):c.7456A>G:p.Ile2486Val	coding	Benign/Likely_benign
9	77356873	A	G	A77356873G	VPS13A	NM_033305.3(VPS13A):c.7806+6A>G	noncoding	Benign
9	77358419	G	C	G77358419C	VPS13A	NM_033305.3(VPS13A):c.8016G>C:p.Lys2672Asn	coding	Benign
9	77358438	G	A	G77358438A	VPS13A	NM_033305.3(VPS13A):c.8035G>A:p.Ala2679Thr	coding	Pathogenic
9	77365476	A	C	A77365476C	VPS13A	NM_033305.3(VPS13A):c.8228A>C:p.Lys2743Thr	coding	Benign
9	77366751	T	G	T77366751G	VPS13A	NM_033305.3(VPS13A):c.8350T>G:p.Ser2784Ala	coding	Benign
9	77368043	C	T	C77368043T	VPS13A	NM_033305.3(VPS13A):c.8472-12C>T	noncoding	Benign
9	77369316	T	C	T77369316C	VPS13A	NM_033305.3(VPS13A):c.8571T>C:p.Tyr2857=	coding	Benign
9	77370265	C	T	C77370265T	VPS13A	NM_033305.3(VPS13A):c.8676C>T:p.Ile2892=	coding	Benign/Likely_benign
9	77370588	T	G	T77370588G	VPS13A	NM_033305.3(VPS13A):c.8907+10T>G	noncoding	Benign
9	77371099	A	G	A77371099G	VPS13A	NM_033305.3(VPS13A):c.9027A>G:p.Pro3009=	coding	Benign
9	77371141	A	G	A77371141G	VPS13A	NM_033305.3(VPS13A):c.9069A>G:p.Gly3023=	coding	Benign
9	77381969	C	T	C77381969T	VPS13A	NM_033305.3(VPS13A):c.9078-7C>T	noncoding	Benign/Likely_benign
9	77382007	C	T	C77382007T	VPS13A	NM_033305.3(VPS13A):c.9109C>T:p.Arg3037Ter	coding	Pathogenic
9	77382048	G	A	G77382048A	VPS13A	NM_033305.3(VPS13A):c.9150G>A:p.Pro3050=	coding	Benign
9	77405958	C	A	C77405958A	VPS13A	NM_033305.3(VPS13A):c.9370C>A:p.His3124Asn	coding	Benign
9	77405970	T	C	T77405970C	VPS13A	NM_033305.3(VPS13A):c.9382T>C:p.Leu3128=	coding	Benign
9	77407518	A	C	A77407518C	VPS13A	NM_033305.3(VPS13A):c.9400-15A>C	noncoding	Benign
9	77407536	C	T	C77407536T	VPS13A	NM_033305.3(VPS13A):c.9403C>T:p.Arg3135Ter	coding	Pathogenic
9	77416228	G	A	G77416228A	VPS13A	NM_033305.3(VPS13A):c.*222G>A	noncoding	Benign
9	77416571	G	A	G77416571A	VPS13A	NM_033305.3(VPS13A):c.*565G>A	noncoding	Benign
9	77416700	C	A	C77416700A	VPS13A	NM_033305.3(VPS13A):c.*694C>A	noncoding	Benign
9	77416948	C	T	C77416948T	VPS13A	NM_033305.3(VPS13A):c.*942C>T	noncoding	Benign
9	77417030	C	T	C77417030T	VPS13A	NM_033305.3(VPS13A):c.*1024C>T	noncoding	Benign
9	77417192	A	G	A77417192G	VPS13A	NM_033305.3(VPS13A):c.*1186A>G	noncoding	Benign
9	77417384	C	A	C77417384A	VPS13A	NM_033305.3(VPS13A):c.*1378C>A	noncoding	Benign
9	77417464	T	G	T77417464G	VPS13A	NM_033305.3(VPS13A):c.*1458T>G	noncoding	Benign
9	77431365	G	A	G77431365A	GNA14	NM_004297.4(GNA14):c.549C>T:p.Thr183=	coding	Benign
9	77529183	G	A	G77529183A	GNA14	NM_004297.4(GNA14):c.195C>T:p.Asp65=	coding	Benign
9	77647697	G	A	G77647697A	GNA14	NM_004297.4(GNA14):c.97C>T:p.Arg33Cys	coding	Benign
9	77794572	T	A	T77794572A	GNAQ	NM_002072.5(GNAQ):c.626A>T:p.Gln209Leu	coding	Pathogenic/Likely_pathogenic
9	77794572	T	C	T77794572C	GNAQ	NM_002072.5(GNAQ):c.626A>G:p.Gln209Arg	coding	Pathogenic
9	77794572	T	G	T77794572G	GNAQ	NM_002072.5(GNAQ):c.626A>C:p.Gln209Pro	coding	Pathogenic/Likely_pathogenic
9	77797577	C	T	C77797577T	GNAQ	NM_002072.5(GNAQ):c.548G>A:p.Arg183Gln	coding	Pathogenic
9	77922320	C	T	C77922320T	GNAQ	NM_002072.5(GNAQ):c.162G>A:p.Thr54=	coding	Benign
9	78236385	C	T	C78236385T	CEP78	NM_001330691.3(CEP78):c.35C>T:p.Ala12Val	coding	Benign
9	78236408	G	T	G78236408T	CEP78	NM_001330691.3(CEP78):c.58G>T:p.Glu20Ter	coding	Pathogenic
9	78236434	G	C	G78236434C	CEP78	NM_001330691.3(CEP78):c.84G>C:p.Ser28=	coding	Benign
9	78236611	G	A	G78236611A	CEP78	NM_001330691.3(CEP78):c.253+8G>A	noncoding	Benign
9	78240180	A	G	A78240180G	CEP78	NM_001330691.3(CEP78):c.411A>G:p.Leu137=	coding	Benign
9	78240365	G	T	G78240365T	CEP78	NM_001330691.3(CEP78):c.499+1G>T	coding	Pathogenic
9	78240369	G	A	G78240369A	CEP78	NM_001330691.3(CEP78):c.499+5G>A	noncoding	Pathogenic
9	78243456	T	G	T78243456G	CEP78	NM_001330691.3(CEP78):c.604-6T>G	noncoding	Benign
9	78243493	G	A	G78243493A	CEP78	NM_001330691.3(CEP78):c.635G>A:p.Trp212Ter	coding	Pathogenic
9	78246688	C	T	C78246688T	CEP78	NM_001330691.3(CEP78):c.798C>T:p.Cys266=	coding	Benign
9	78248290	G	A	G78248290A	CEP78	NM_001330691.3(CEP78):c.893-1G>A	noncoding	Pathogenic
9	78248353	G	C	G78248353C	CEP78	NM_001330691.3(CEP78):c.955G>C:p.Glu319Gln	coding	Benign
9	78253282	G	A	G78253282A	CEP78	NM_001330691.3(CEP78):c.1251+5G>A	noncoding	Pathogenic
9	78264233	C	T	C78264233T	CEP78	NM_001330691.3(CEP78):c.1542C>T:p.Ile514=	coding	Benign
9	78264257	C	T	C78264257T	CEP78	NM_001330691.3(CEP78):c.1566C>T:p.Gly522=	coding	Benign
9	78265370	A	G	A78265370G	CEP78	NM_001330691.3(CEP78):c.1626-2A>G	noncoding	Pathogenic
9	78265526	C	A	C78265526A	CEP78	NM_001330691.3(CEP78):c.1780C>A:p.Gln594Lys	coding	Benign
9	78265534	A	G	A78265534G	CEP78	NM_001330691.3(CEP78):c.1788A>G:p.Gln596=	coding	Benign
9	78266603	T	C	T78266603C	CEP78	NM_001330691.3(CEP78):c.2007T>C:p.Cys669=	coding	Benign
9	78266673	A	C	A78266673C	CEP78	NM_001330691.3(CEP78):c.2077A>C:p.Arg693=	coding	Benign
9	78297199	G	C	G78297199C	PSAT1	NM_058179.4(PSAT1):c.-12G>C	noncoding	Benign
9	78304839	C	T	C78304839T	PSAT1	NM_058179.4(PSAT1):c.296C>T:p.Ala99Val	coding	Pathogenic
9	78304840	T	G	T78304840G	PSAT1	NM_058179.4(PSAT1):c.297T>G:p.Ala99=	coding	Benign
9	78304842	A	C	A78304842C	PSAT1	NM_058179.4(PSAT1):c.299A>C:p.Asp100Ala	coding	Pathogenic
9	78304891	G	A	G78304891A	PSAT1	NM_058179.4(PSAT1):c.348G>A:p.Lys116=	coding	Benign
9	78306336	G	A	G78306336A	PSAT1	NM_058179.4(PSAT1):c.420G>A:p.Trp140Ter	coding	Pathogenic
9	78306452	C	T	C78306452T	PSAT1	NM_058179.4(PSAT1):c.536C>T:p.Ser179Leu	coding	Pathogenic
9	78308539	G	A	G78308539A	PSAT1	NM_058179.4(PSAT1):c.696G>A:p.Val232=	coding	Benign
9	78329032	C	T	C78329032T	PSAT1	NM_058179.4(PSAT1):c.1059C>T:p.Asp353=	coding	Benign
9	78329337	C	T	C78329337T	PSAT1	NM_058179.4(PSAT1):c.*251C>T	noncoding	Benign
9	78329338	G	C	G78329338C	PSAT1	NM_058179.4(PSAT1):c.*252G>C	noncoding	Benign
9	78329508	C	T	C78329508T	PSAT1	NM_058179.4(PSAT1):c.*422C>T	noncoding	Benign
9	79708207	A	T	A79708207T	TLE4	NM_001282748.1(TLE4):c.1122A>T:p.Gly374=	coding	Benign
9	79718779	C	G	C79718779G	TLE4	NM_001282748.1(TLE4):c.1494C>G:p.Pro498=	coding	Benign
9	79718839	C	T	C79718839T	TLE4	NM_001282748.1(TLE4):c.1554C>T:p.His518=	coding	Benign
9	79720246	C	T	C79720246T	TLE4	NM_001282748.1(TLE4):c.1887C>T:p.Ser629=	coding	Benign
9	79722492	A	C	A79722492C	TLE4	NM_001282748.1(TLE4):c.2124A>C:p.Ala708=	coding	Benign
9	81687396	A	G	A81687396G	TLE1	NM_005077.5(TLE1):c.63T>C:p.Thr21=	coding	Benign
9	83666356	G	A	G83666356A	UBQLN1	NM_013438.5(UBQLN1):c.1326C>T:p.Leu442=	coding	Benign
9	83850216	T	C	T83850216C	KIF27	NM_017576.4(KIF27):c.3439A>G:p.Met1147Val	coding	Benign
9	83853800	A	T	A83853800T	KIF27	NM_017576.4(KIF27):c.3186T>A:p.Ile1062=	coding	Benign
9	83859200	T	C	T83859200C	KIF27	NM_017576.4(KIF27):c.3106A>G:p.Asn1036Asp	coding	Benign
9	83859207	G	T	G83859207T	KIF27	NM_017576.4(KIF27):c.3099C>A:p.Arg1033=	coding	Benign
9	83859252	T	C	T83859252C	KIF27	NM_017576.4(KIF27):c.3054A>G:p.Glu1018=	coding	Benign
9	83888553	A	T	A83888553T	KIF27	NM_017576.4(KIF27):c.2019T>A:p.Val673=	coding	Benign
9	83889090	C	T	C83889090T	KIF27	NM_017576.4(KIF27):c.1973G>A:p.Gly658Glu	coding	Benign
9	83903881	T	C	T83903881C	KIF27	NM_017576.4(KIF27):c.637A>G:p.Ile213Val	coding	Benign
9	83944798	G	A	G83944798A	C9orf64	NM_032307.5(C9orf64):c.789C>T:p.Leu263=	coding	Benign
9	83944985	T	C	T83944985C	C9orf64	NM_032307.5(C9orf64):c.602A>G:p.Lys201Arg	coding	Benign
9	83955571	G	T	G83955571T	C9orf64	NM_032307.5(C9orf64):c.407C>A:p.Ser136Tyr	coding	Benign
9	83955619	G	C	G83955619C	C9orf64	NM_032307.5(C9orf64):c.359C>G:p.Ser120Trp	coding	Benign
9	83970273	G	T	G83970273T	HNRNPK	NM_031263.4(HNRNPK):c.1250C>A:p.Ser417Ter	coding	Pathogenic
9	83970788	A	G	A83970788G	HNRNPK	NM_031263.4(HNRNPK):c.1140T>C:p.Tyr380=	coding	Benign
9	83971263	G	C	G83971263C	HNRNPK	NM_031263.4(HNRNPK):c.1092+10C>G	noncoding	Benign
9	83971303	T	A	T83971303A	HNRNPK	NM_031263.4(HNRNPK):c.1062A>T:p.Pro354=	coding	Benign
9	83971671	C	T	C83971671T	HNRNPK	NM_031263.4(HNRNPK):c.1008+1G>A	noncoding	Pathogenic
9	83971976	G	A	G83971976A	HNRNPK	NM_031263.4(HNRNPK):c.859C>T:p.Arg287Ter	coding	Pathogenic
9	83972162	A	G	A83972162G	HNRNPK	NM_031263.4(HNRNPK):c.673T>C:p.Tyr225His	coding	Pathogenic/Likely_pathogenic
9	83973338	A	G	A83973338G	HNRNPK	NM_031263.4(HNRNPK):c.464T>C:p.Leu155Pro	coding	Pathogenic
9	83973367	G	A	G83973367A	HNRNPK	NM_031263.4(HNRNPK):c.435C>T:p.Cys145=	coding	Benign
9	83975462	C	T	C83975462T	HNRNPK	NM_031263.4(HNRNPK):c.257G>A:p.Arg86His	coding	Pathogenic/Likely_pathogenic
9	83976988	T	C	T83976988C	HNRNPK	NM_031263.4(HNRNPK):c.213+7A>G	noncoding	Benign
9	84001883	A	T	A84001883T	RMI1	NM_001358291.2(RMI1):c.897A>T:p.Pro299=	coding	Benign
9	84001983	A	G	A84001983G	RMI1	NM_001358291.2(RMI1):c.997A>G:p.Thr333Ala	coding	Benign
9	84002257	A	G	A84002257G	RMI1	NM_001358291.2(RMI1):c.1271A>G:p.Asp424Gly	coding	Benign
9	84288152	C	T	C84288152T	SLC28A3	NM_001199633.2(SLC28A3):c.1176G>A:p.Ala392=	coding	Benign
9	84290181	G	A	G84290181A	SLC28A3	NM_001199633.2(SLC28A3):c.1122C>T:p.Ser374=	coding	Benign
9	84340620	C	T	C84340620T	SLC28A3	NM_001199633.2(SLC28A3):c.14G>A:p.Ser5Asn	coding	Benign
9	84727733	C	A	C84727733A	NTRK2	NM_006180.5(NTRK2):c.933C>A:p.Pro311=	coding	Benign
9	84751990	A	G	A84751990G	NTRK2	NM_006180.4(NTRK2):c.1301A>G:p.Tyr434Cys	coding	Pathogenic/Likely_pathogenic
9	84752019	G	T	G84752019T	NTRK2	NM_006180.4(NTRK2):c.1330G>T:p.Gly444Ter	coding	Pathogenic
9	84955458	C	T	C84955458T	NTRK2	NM_006180.4(NTRK2):c.2113C>T:p.Leu705=	coding	Benign
9	84955504	C	T	C84955504T	NTRK2	NM_006180.4(NTRK2):c.2159C>T:p.Thr720Ile	coding	Pathogenic
9	84955510	A	G	A84955510G	NTRK2	NM_006180.4(NTRK2):c.2165A>G:p.Tyr722Cys	coding	Pathogenic
9	85021281	C	A	C85021281A	NTRK2	NM_006180.5(NTRK2):c.2361C>A:p.Val787=	coding	Benign
9	85021350	C	T	C85021350T	NTRK2	NM_006180.4(NTRK2):c.2430C>T:p.Pro810=	coding	Benign
9	85586895	T	A	T85586895A	AGTPBP1	NM_015239.2(AGTPBP1):c.2849A>T:p.His950Leu	coding	Pathogenic
9	85588359	G	A	G85588359A	AGTPBP1	NM_001286715.1(AGTPBP1):c.2998C>T:p.Arg1000Ter	coding	Pathogenic
9	85588449	G	A	G85588449A	AGTPBP1	NM_015239.2(AGTPBP1):c.2632C>T:p.Arg878Trp	coding	Pathogenic
9	85592562	G	A	G85592562A	AGTPBP1	NM_015239.2(AGTPBP1):c.2446C>T:p.Gln816Ter	coding	Pathogenic
9	85592576	G	A	G85592576A	AGTPBP1	NM_001330701.1(AGTPBP1):c.2552C>T:p.Thr851Met	coding	Pathogenic
9	85596450	C	A	C85596450A	AGTPBP1	NM_001286715.1(AGTPBP1):c.2492-1G>T	coding	Pathogenic
9	85621221	A	C	A85621221C	AGTPBP1	NM_015239.2(AGTPBP1):c.1960T>G:p.Tyr654Asp	coding	Pathogenic
9	85642889	G	A	G85642889A	AGTPBP1	NM_001330701.2(AGTPBP1):c.1240C>T:p.Arg414Ter	coding	Pathogenic
9	86035405	G	A	G86035405A	GOLM1	NM_016548.4(GOLM1):c.978C>T:p.Pro326=	coding	Benign
9	86035513	G	A	G86035513A	GOLM1	NM_016548.4(GOLM1):c.870C>T:p.Phe290=	coding	Benign
9	86046467	C	T	C86046467T	GOLM1	NM_016548.4(GOLM1):c.467+3G>A	noncoding	Benign
9	86046571	G	A	G86046571A	GOLM1	NM_016548.4(GOLM1):c.366C>T:p.Asp122=	coding	Benign
9	86079216	C	T	C86079216T	GOLM1	NM_016548.4(GOLM1):c.105G>A:p.Ala35=	coding	Benign
9	86266174	C	T	C86266174T	ISCA1	NM_030940.4(ISCA1):c.259G>A:p.Glu87Lys	coding	Pathogenic
9	86282430	A	C	A86282430C	ISCA1	NM_030940.4(ISCA1):c.29T>G:p.Val10Gly	coding	Pathogenic
9	86323199	C	T	C86323199T	TUT7	NM_024617.4(TUT7):c.2551G>A:p.Asp851Asn	coding	Benign
9	86346438	G	A	G86346438A	TUT7	NM_024617.4(TUT7):c.563C>T:p.Thr188Ile	coding	Benign
9	86945787	G	C	G86945787C	GAS1	NM_002048.3(GAS1):c.993C>G:p.Thr331=	coding	Benign
9	86946039	C	T	C86946039T	GAS1	NM_002048.3(GAS1):c.741G>A:p.Glu247=	coding	Benign
9	87637937	T	C	T87637937C	DAPK1	NM_004938.4(DAPK1):c.285-6T>C	noncoding	Benign
9	87638024	A	G	A87638024G	DAPK1	NM_004938.4(DAPK1):c.366A>G:p.Gln122=	coding	Benign
9	87640793	C	G	C87640793G	DAPK1	NM_004938.4(DAPK1):c.783-9C>G	noncoding	Benign
9	87643366	T	A	T87643366A	DAPK1	NM_004938.4(DAPK1):c.919-10T>A	noncoding	Benign
9	87646023	C	T	C87646023T	DAPK1	NM_004938.4(DAPK1):c.1131+9C>T	noncoding	Benign
9	87646454	A	G	A87646454G	DAPK1	NM_004938.4(DAPK1):c.1132-7A>G	noncoding	Benign
9	87646538	G	A	G87646538A	DAPK1	NM_004938.4(DAPK1):c.1209G>A:p.Ser403=	coding	Benign
9	87647299	C	G	C87647299G	DAPK1	NM_004938.4(DAPK1):c.1231-6C>G	noncoding	Benign
9	87647367	C	T	C87647367T	DAPK1	NM_004938.4(DAPK1):c.1293C>T:p.Leu431=	coding	Benign
9	87668644	C	T	C87668644T	DAPK1	NM_004938.4(DAPK1):c.1971C>T:p.His657=	coding	Benign
9	87703133	G	T	G87703133T	DAPK1	NM_004938.4(DAPK1):c.2976G>T:p.Val992=	coding	Benign
9	87706128	G	A	G87706128A	DAPK1	NM_004938.4(DAPK1):c.3061-4G>A	noncoding	Benign
9	87706947	A	G	A87706947G	DAPK1	NM_004938.4(DAPK1):c.3876A>G:p.Ser1292=	coding	Benign
9	87707112	C	T	C87707112T	DAPK1	NM_004938.4(DAPK1):c.4041C>T:p.Asn1347=	coding	Benign
9	87707285	G	T	G87707285T	DAPK1	NM_004938.4(DAPK1):c.4214G>T:p.Gly1405Val	coding	Benign
9	87728350	C	A	C87728350A	CTSL	NM_001912.5(CTSL):c.350C>A:p.Ser117Tyr	coding	Benign
9	87969868	C	T	C87969868T	CDK20	NM_001039803.2(CDK20):c.615G>A:p.Pro205=	coding	Benign
9	87969919	C	T	C87969919T	CDK20	NM_001039803.2(CDK20):c.564G>A:p.Trp188Ter	coding	Pathogenic
9	87970768	C	T	C87970768T	CDK20	NM_001039803.2(CDK20):c.500+8G>A	noncoding	Benign
9	87971267	C	T	C87971267T	CDK20	NM_001039803.2(CDK20):c.258G>A:p.Ser86=	coding	Benign
9	87971306	G	A	G87971306A	CDK20	NM_001039803.2(CDK20):c.219C>T:p.His73=	coding	Benign
9	89325666	C	T	C89325666T	SECISBP2	NM_024077.5(SECISBP2):c.422C>T:p.Ala141Val	coding	Benign
9	89338609	G	A	G89338609A	SECISBP2	NM_024077.5(SECISBP2):c.1212+29G>A	noncoding	Pathogenic
9	89341356	A	T	A89341356T	SECISBP2	NM_024077.5(SECISBP2):c.1312A>T:p.Lys438Ter	coding	Pathogenic
9	89341432	A	G	A89341432G	SECISBP2	NM_024077.5(SECISBP2):c.1388A>G:p.Gln463Arg	coding	Benign
9	89346921	G	T	G89346921T	SECISBP2	NM_024077.5(SECISBP2):c.1475G>T:p.Gly492Val	coding	Benign
9	89348095	G	A	G89348095A	SECISBP2	NM_024077.5(SECISBP2):c.1619G>A:p.Arg540Gln	coding	Pathogenic
9	89348221	A	C	A89348221C	SECISBP2	NM_024077.5(SECISBP2):c.1738+7A>C	noncoding	Benign
9	89358046	G	A	G89358046A	SECISBP2	NM_024077.5(SECISBP2):c.2316G>A:p.Ala772=	coding	Benign
9	89387377	G	A	G89387377A	SEMA4D	NM_006378.4(SEMA4D):c.1330+9C>T	noncoding	Benign
9	89388774	C	T	C89388774T	SEMA4D	NM_006378.4(SEMA4D):c.969G>A:p.Ser323=	coding	Benign
9	90613414	G	A	G90613414A	DIRAS2	NM_017594.5(DIRAS2):c.414C>T:p.Ala138=	coding	Benign
9	90613675	G	A	G90613675A	DIRAS2	NM_017594.5(DIRAS2):c.153C>T:p.Asp51=	coding	Benign
9	90864655	A	C	A90864655C	SYK	NM_003177.7(SYK):c.784A>C:p.Ile262Leu	coding	Benign
9	90877564	C	A	C90877564A	SYK	NM_003177.7(SYK):c.1182-7C>A	noncoding	Benign
9	91214148	T	C	T91214148C	AUH	NM_001698.3(AUH):c.*200A>G	noncoding	Benign
9	91214241	T	C	T91214241C	AUH	NM_001698.2(AUH):c.*107A>G	noncoding	Benign
9	91214427	T	C	T91214427C	AUH	NM_001698.2(AUH):c.943-2A>G	noncoding	Pathogenic
9	91216074	T	C	T91216074C	AUH	NM_001698.2(AUH):c.927A>G:p.Glu309=	coding	Benign
9	91216107	C	T	C91216107T	AUH	NM_001698.2(AUH):c.895-1G>A	coding	Pathogenic
9	91217347	A	G	A91217347G	AUH	NM_001698.2(AUH):c.844-20T>C	noncoding	Benign
9	91220617	G	A	G91220617A	AUH	NM_001698.2(AUH):c.843+188C>T	noncoding	Benign
9	91220650	C	T	C91220650T	AUH	NM_001698.2(AUH):c.843+155G>A	noncoding	Benign
9	91220850	C	T	C91220850T	AUH	NM_001698.2(AUH):c.798G>A:p.Ala266=	coding	Benign
9	91221255	A	C	A91221255C	AUH	NM_001698.2(AUH):c.656-263T>G	noncoding	Benign
9	91296026	C	T	C91296026T	AUH	NM_001698.2(AUH):c.650G>A:p.Gly217Asp	coding	Pathogenic
9	91297749	G	A	G91297749A	AUH	NM_001698.2(AUH):c.598+235C>T	noncoding	Benign
9	91297993	G	A	G91297993A	AUH	NM_001698.2(AUH):c.589C>T:p.Arg197Ter	coding	Pathogenic
9	91298023	C	T	C91298023T	AUH	NM_001698.2(AUH):c.559G>A:p.Gly187Ser	coding	Pathogenic
9	91325120	A	G	A91325120G	AUH	NM_001698.2(AUH):c.505+198T>C	noncoding	Benign
9	91325340	T	G	T91325340G	AUH	NM_001698.2(AUH):c.483A>C:p.Ile161=	coding	Benign
9	91355976	C	T	C91355976T	AUH	NM_001698.2(AUH):c.331-6G>A	noncoding	Benign
9	91356157	T	C	T91356157C	AUH	NM_001698.2(AUH):c.263-2A>G	noncoding	Pathogenic
9	91361708	G	T	G91361708T	AUH	NM_001698.2(AUH):c.182C>A:p.Pro61His	coding	Benign/Likely_benign
9	91361755	C	T	C91361755T	AUH	NM_001698.2(AUH):c.135G>A:p.Ala45=	coding	Benign/Likely_benign
9	91361813	C	T	C91361813T	AUH	NM_001698.2(AUH):c.77G>A:p.Cys26Tyr	coding	Benign
9	91362132	T	C	T91362132C	AUH	NM_001698.2(AUH):c.-243A>G	noncoding	Benign
9	91409346	T	C	T91409346C	NFIL3	NM_005384.3(NFIL3):c.1389A>G:p.Ter463=	coding	Benign
9	91409913	C	T	C91409913T	NFIL3	NM_005384.3(NFIL3):c.822G>A:p.Thr274=	coding	Benign
9	91410201	G	C	G91410201C	NFIL3	NM_005384.3(NFIL3):c.534C>G:p.Val178=	coding	Benign
9	91410399	G	A	G91410399A	NFIL3	NM_005384.3(NFIL3):c.336C>T:p.Asn112=	coding	Benign
9	91410710	C	T	C91410710T	NFIL3	NM_005384.3(NFIL3):c.25G>A:p.Val9Ile	coding	Benign
9	91722646	A	C	A91722646C	ROR2	NM_004560.4(ROR2):c.*1016T>G	noncoding	Benign
9	91722735	G	A	G91722735A	ROR2	NM_004560.4(ROR2):c.*927C>T	noncoding	Benign/Likely_benign
9	91722776	C	A	C91722776A	ROR2	NM_004560.4(ROR2):c.*886G>T	noncoding	Benign
9	91722926	T	C	T91722926C	ROR2	NM_004560.4(ROR2):c.*736A>G	noncoding	Benign
9	91722950	G	A	G91722950A	ROR2	NM_004560.4(ROR2):c.*712C>T	noncoding	Benign
9	91723141	C	T	C91723141T	ROR2	NM_004560.4(ROR2):c.*521G>A	noncoding	Benign/Likely_benign
9	91723417	T	C	T91723417C	ROR2	NM_004560.4(ROR2):c.*245A>G	noncoding	Benign
9	91723433	G	A	G91723433A	ROR2	NM_004560.4(ROR2):c.*229C>T	noncoding	Benign
9	91723646	C	T	C91723646T	ROR2	NM_004560.4(ROR2):c.*16G>A	noncoding	Benign
9	91723767	C	T	C91723767T	ROR2	NM_004560.4(ROR2):c.2727G>A:p.Val909=	coding	Benign
9	91723874	C	T	C91723874T	ROR2	NM_004560.4(ROR2):c.2620G>A:p.Val874Ile	coding	Benign
9	91724028	G	A	G91724028A	ROR2	NM_004560.4(ROR2):c.2466C>T:p.Asn822=	coding	Benign/Likely_benign
9	91724039	C	T	C91724039T	ROR2	NM_004560.4(ROR2):c.2455G>A:p.Val819Ile	coding	Benign
9	91724095	T	G	T91724095G	ROR2	NM_004560.4(ROR2):c.2399A>C:p.Gln800Pro	coding	Benign
9	91724229	G	T	G91724229T	ROR2	NM_004560.4(ROR2):c.2265C>A:p.Tyr755Ter	coding	Pathogenic
9	91724247	C	T	C91724247T	ROR2	NM_004560.4(ROR2):c.2247G>A:p.Trp749Ter	coding	Pathogenic
9	91724248	C	T	C91724248T	ROR2	NM_004560.4(ROR2):c.2246G>A:p.Trp749Ter	coding	Pathogenic
9	91724334	C	T	C91724334T	ROR2	NM_004560.4(ROR2):c.2160G>A:p.Trp720Ter	coding	Pathogenic
9	91724340	G	A	G91724340A	ROR2	NM_004560.4(ROR2):c.2154C>T:p.Pro718=	coding	Benign
9	91724385	C	A	C91724385A	ROR2	NM_004560.4(ROR2):c.2109G>T:p.Glu703Asp	coding	Benign
9	91724406	G	A	G91724406A	ROR2	NM_004560.4(ROR2):c.2088C>T:p.Tyr696=	coding	Benign
9	91724411	C	T	C91724411T	ROR2	NM_004560.4(ROR2):c.2083G>A:p.Gly695Arg	coding	Benign
9	91724634	A	G	A91724634G	ROR2	NM_004560.4(ROR2):c.1860T>C:p.Asn620=	coding	Benign
9	91724782	T	C	T91724782C	ROR2	NM_004560.4(ROR2):c.1712A>G:p.His571Arg	coding	Benign/Likely_benign
9	91724784	C	T	C91724784T	ROR2	NM_004560.4(ROR2):c.1710G>A:p.Pro570=	coding	Benign
9	91724808	G	A	G91724808A	ROR2	NM_004560.4(ROR2):c.1686C>T:p.His562=	coding	Benign
9	91724852	G	A	G91724852A	ROR2	NM_004560.4(ROR2):c.1642C>T:p.Pro548Ser	coding	Benign
9	91724905	C	T	C91724905T	ROR2	NM_004560.4(ROR2):c.1589G>A:p.Arg530Gln	coding	Benign/Likely_benign
9	91724990	G	A	G91724990A	ROR2	NM_004560.4(ROR2):c.1504C>T:p.Gln502Ter	coding	Pathogenic
9	91726603	G	A	G91726603A	ROR2	NM_004560.4(ROR2):c.1324C>T:p.Arg442Ter	coding	Pathogenic
9	91731048	G	C	G91731048C	ROR2	NM_004560.4(ROR2):c.1045C>G:p.His349Asp	coding	Benign
9	91731188	G	A	G91731188A	ROR2	NM_004560.4(ROR2):c.938-33C>T	noncoding	Benign
9	91733112	G	A	G91733112A	ROR2	NM_004560.4(ROR2):c.937+10C>T	noncoding	Benign/Likely_benign
9	91733124	C	T	C91733124T	ROR2	NM_004560.4(ROR2):c.935G>A:p.Arg312His	coding	Benign/Likely_benign
9	91733308	G	A	G91733308A	ROR2	NM_004560.4(ROR2):c.751C>T:p.Leu251=	coding	Benign/Likely_benign
9	91733326	T	C	T91733326C	ROR2	NM_004560.4(ROR2):c.733A>G:p.Thr245Ala	coding	Benign
9	91733342	G	A	G91733342A	ROR2	NM_004560.4(ROR2):c.717C>T:p.Cys239=	coding	Benign
9	91737400	G	A	G91737400A	ROR2	NM_004560.4(ROR2):c.613C>T:p.Arg205Ter	coding	Pathogenic
9	91737463	G	A	G91737463A	ROR2	NM_004560.4(ROR2):c.550C>T:p.Arg184Cys	coding	Pathogenic
9	91737515	A	G	A91737515G	ROR2	NM_004560.4(ROR2):c.498T>C:p.Asp166=	coding	Benign
9	91756046	C	T	C91756046T	ROR2	NM_004560.4(ROR2):c.494+25G>A	noncoding	Benign
9	91756094	C	T	C91756094T	ROR2	NM_004560.4(ROR2):c.471G>A:p.Thr157=	coding	Benign
9	91757363	G	A	G91757363A	ROR2	NM_004560.4(ROR2):c.372C>T:p.Asp124=	coding	Benign/Likely_benign
9	91757380	G	A	G91757380A	ROR2	NM_004560.4(ROR2):c.355C>T:p.Arg119Ter	coding	Pathogenic
9	91757459	G	A	G91757459A	ROR2	NM_004560.4(ROR2):c.276C>T:p.Asn92=	coding	Benign
9	91775833	C	G	C91775833G	ROR2	NM_004560.4(ROR2):c.98-15G>C	noncoding	Benign
9	91949957	G	A	G91949957A	ROR2	NM_004560.4(ROR2):c.7C>T:p.Arg3Trp	coding	Benign/Likely_benign
9	91950023	C	A	C91950023A	ROR2	NM_004560.4(ROR2):c.-60G>T	noncoding	Benign/Likely_benign
9	91950054	C	T	C91950054T	ROR2	NM_004560.4(ROR2):c.-91G>A	noncoding	Benign/Likely_benign
9	92031163	A	C	A92031163C	SPTLC1	NM_006415.4(SPTLC1):c.*1302T>G	noncoding	Benign
9	92031295	A	G	A92031295G	SPTLC1	NM_006415.4(SPTLC1):c.*1170T>C	noncoding	Benign
9	92031311	A	G	A92031311G	SPTLC1	NM_006415.4(SPTLC1):c.*1154T>C	noncoding	Benign
9	92031456	C	A	C92031456A	SPTLC1	NM_006415.4(SPTLC1):c.*1009G>T	noncoding	Benign
9	92031975	T	C	T92031975C	SPTLC1	NM_006415.4(SPTLC1):c.*490A>G	noncoding	Benign
9	92031982	T	C	T92031982C	SPTLC1	NM_006415.4(SPTLC1):c.*483A>G	noncoding	Benign
9	92032275	T	G	T92032275G	SPTLC1	NM_006415.4(SPTLC1):c.*190A>C	noncoding	Benign
9	92032287	A	T	A92032287T	SPTLC1	NM_006415.4(SPTLC1):c.*178T>A	noncoding	Benign
9	92032341	T	C	T92032341C	SPTLC1	NM_006415.4(SPTLC1):c.*124A>G	coding	Benign/Likely_benign
9	92032476	C	T	C92032476T	SPTLC1	NM_006415.4(SPTLC1):c.1411G>A:p.Val471Ile	coding	Benign/Likely_benign
9	92034890	G	A	G92034890A	SPTLC1	NM_006415.4(SPTLC1):c.1255-7C>T	noncoding	Benign/Likely_benign
9	92038238	G	A	G92038238A	SPTLC1	NM_006415.4(SPTLC1):c.1254+10C>T	noncoding	Benign/Likely_benign
9	92038302	C	T	C92038302T	SPTLC1	NM_006415.4(SPTLC1):c.1200G>A:p.Glu400=	coding	Benign
9	92045987	T	C	T92045987C	SPTLC1	NM_006415.4(SPTLC1):c.1136+12A>G	noncoding	Benign
9	92046060	G	T	G92046060T	SPTLC1	NM_006415.4(SPTLC1):c.1082-7C>A	noncoding	Benign
9	92047198	G	A	G92047198A	SPTLC1	NM_006415.4(SPTLC1):c.1055C>T:p.Ala352Val	coding	Pathogenic
9	92047261	G	A	G92047261A	SPTLC1	NM_006415.4(SPTLC1):c.992C>T:p.Ser331Phe	coding	Pathogenic
9	92047261	G	T	G92047261T	SPTLC1	NM_006415.4(SPTLC1):c.992C>A:p.Ser331Tyr	coding	Pathogenic
9	92047273	G	A	G92047273A	SPTLC1	NM_006415.4(SPTLC1):c.985-5C>T	noncoding	Benign/Likely_benign
9	92050073	T	C	T92050073C	SPTLC1	NM_006415.4(SPTLC1):c.781-6A>G	noncoding	Benign/Likely_benign
9	92059215	C	T	C92059215T	SPTLC1	NM_006415.4(SPTLC1):c.654G>A:p.Glu218=	coding	Benign
9	92067950	C	G	C92067950G	SPTLC1	NM_006415.4(SPTLC1):c.560+16G>C	noncoding	Benign
9	92068025	T	C	T92068025C	SPTLC1	NM_006415.4(SPTLC1):c.501A>G:p.Gly167=	coding	Benign/Likely_benign
9	92068074	C	A	C92068074A	SPTLC1	NM_006415.4(SPTLC1):c.452G>T:p.Arg151Leu	coding	Benign/Likely_benign
9	92068095	A	T	A92068095T	SPTLC1	NM_006415.4(SPTLC1):c.431T>A:p.Val144Asp	coding	Pathogenic/Likely_pathogenic
9	92080044	A	C	A92080044C	SPTLC1	NM_006415.4(SPTLC1):c.399T>G:p.Cys133Trp	coding	Pathogenic
9	92080045	C	T	C92080045T	SPTLC1	NM_006415.4(SPTLC1):c.398G>A:p.Cys133Tyr	coding	Pathogenic
9	92080056	G	A	G92080056A	SPTLC1	NM_006415.4(SPTLC1):c.387C>T:p.Gly129=	coding	Benign/Likely_benign
9	92210869	C	T	C92210869T	IARS1	NM_002161.6(IARS1):c.3727G>A:p.Val1243Met	coding	Benign
9	92223378	A	T	A92223378T	IARS1	NM_002161.6(IARS1):c.3521T>A:p.Ile1174Asn	coding	Pathogenic
9	92243242	T	C	T92243242C	IARS1	NM_002161.6(IARS1):c.2974A>G:p.Asn992Asp	coding	Pathogenic
9	92245040	G	A	G92245040A	IARS1	NM_002161.6(IARS1):c.2823C>T:p.His941=	coding	Benign
9	92245074	A	G	A92245074G	IARS1	NM_002161.6(IARS1):c.2792-3T>C	noncoding	Benign
9	92247416	G	A	G92247416A	IARS1	NM_002161.6(IARS1):c.2752C>T:p.Gln918Ter	coding	Pathogenic
9	92247426	C	G	C92247426G	IARS1	NM_002161.6(IARS1):c.2742G>C:p.Thr914=	coding	Benign
9	92250753	C	T	C92250753T	IARS1	NM_002161.6(IARS1):c.2389G>A:p.Asp797Asn	coding	Benign
9	92253376	G	A	G92253376A	IARS1	NM_002161.6(IARS1):c.2215C>T:p.Arg739Cys	coding	Pathogenic
9	92256766	G	A	G92256766A	IARS1	NM_002161.6(IARS1):c.2051C>T:p.Thr684Met	coding	Benign
9	92256782	G	T	G92256782T	IARS1	NM_002161.6(IARS1):c.2035C>A:p.Leu679Ile	coding	Benign
9	92258846	G	A	G92258846A	IARS1	NM_002161.6(IARS1):c.2016+8C>T	noncoding	Benign
9	92264962	A	G	A92264962G	IARS1	NM_002161.6(IARS1):c.1667T>C:p.Phe556Ser	coding	Pathogenic
9	92268288	C	T	C92268288T	IARS1	NM_002161.6(IARS1):c.1317G>A:p.Leu439=	coding	Benign
9	92268295	G	A	G92268295A	IARS1	NM_002161.6(IARS1):c.1310C>T:p.Pro437Leu	coding	Pathogenic
9	92269899	A	G	A92269899G	IARS1	NM_002161.6(IARS1):c.1290T>C:p.Asn430=	coding	Benign
9	92269937	G	A	G92269937A	IARS1	NM_002161.6(IARS1):c.1252C>T:p.Arg418Ter	coding	Pathogenic
9	92271020	G	A	G92271020A	IARS1	NM_002161.6(IARS1):c.1170C>T:p.Ala390=	coding	Benign
9	92271064	T	C	T92271064C	IARS1	NM_002161.6(IARS1):c.1126A>G:p.Ser376Gly	coding	Benign
9	92271537	A	C	A92271537C	IARS1	NM_002161.6(IARS1):c.1109T>G:p.Val370Gly	coding	Pathogenic
9	92274465	T	G	T92274465G	IARS1	NM_002161.6(IARS1):c.951A>C:p.Glu317Asp	coding	Benign
9	92274466	T	C	T92274466C	IARS1	NM_002161.6(IARS1):c.950A>G:p.Glu317Gly	coding	Benign
9	92278272	G	A	G92278272A	IARS1	NM_002161.6(IARS1):c.760C>T:p.Arg254Ter	coding	Pathogenic
9	92285779	G	A	G92285779A	IARS1	NM_002161.6(IARS1):c.540C>T:p.Pro180=	coding	Benign
9	92286586	G	A	G92286586A	IARS1	NM_002161.6(IARS1):c.429C>T:p.Asp143=	coding	Benign
9	92715178	C	T	C92715178T	BICD2	NM_001003800.2(BICD2):c.2544G>A:p.Glu848=	coding	Benign
9	92715181	G	A	G92715181A	BICD2	NM_001003800.2(BICD2):c.2541C>T:p.Ser847=	coding	Benign
9	92715253	G	A	G92715253A	BICD2	NM_001003800.2(BICD2):c.2469C>T:p.Ser823=	coding	Benign
9	92715277	C	T	C92715277T	BICD2	NM_001003800.2(BICD2):c.2445G>A:p.Pro815=	coding	Benign/Likely_benign
9	92715325	G	A	G92715325A	BICD2	NM_001003800.2(BICD2):c.2397C>T:p.Leu799=	coding	Benign
9	92715372	T	C	T92715372C	BICD2	NM_001003800.2(BICD2):c.2350A>G:p.Met784Val	coding	Benign
9	92715401	T	C	T92715401C	BICD2	NM_001003800.2(BICD2):c.2321A>G:p.Glu774Gly	coding	Pathogenic
9	92715426	G	A	G92715426A	BICD2	NM_001003800.2(BICD2):c.2296C>T:p.Arg766Trp	coding	Benign
9	92715669	G	T	G92715669T	BICD2	NM_001003800.2(BICD2):c.2259-206C>A	noncoding	Benign
9	92717816	G	A	G92717816A	BICD2	NM_001003800.2(BICD2):c.2239C>T:p.Arg747Cys	coding	Pathogenic/Likely_pathogenic
9	92717947	G	A	G92717947A	BICD2	NM_001003800.2(BICD2):c.2108C>T:p.Thr703Met	coding	Pathogenic/Likely_pathogenic
9	92717969	G	A	G92717969A	BICD2	NM_001003800.2(BICD2):c.2107-21C>T	noncoding	Benign
9	92718803	T	C	T92718803C	BICD2	NM_001003800.2(BICD2):c.1842A>G:p.Pro614=	coding	Benign/Likely_benign
9	92718839	C	T	C92718839T	BICD2	NM_001003800.2(BICD2):c.1806G>A:p.Thr602=	coding	Benign/Likely_benign
9	92718906	C	T	C92718906T	BICD2	NM_001003800.2(BICD2):c.1739G>A:p.Arg580Gln	coding	Benign
9	92719041	G	A	G92719041A	BICD2	NM_001003800.2(BICD2):c.1604C>T:p.Ala535Val	coding	Pathogenic
9	92719106	G	A	G92719106A	BICD2	NM_001003800.2(BICD2):c.1539C>T:p.Ala513=	coding	Benign
9	92719111	C	T	C92719111T	BICD2	NM_001003800.2(BICD2):c.1534G>A:p.Val512Ile	coding	Benign/Likely_benign
9	92719122	T	G	T92719122G	BICD2	NM_001003800.2(BICD2):c.1523A>C:p.Lys508Thr	coding	Pathogenic
9	92719143	C	G	C92719143G	BICD2	NM_001003800.2(BICD2):c.1502G>C:p.Arg501Pro	coding	Pathogenic
9	92719164	T	C	T92719164C	BICD2	NM_001003800.2(BICD2):c.1481A>G:p.Gln494Arg	coding	Benign
9	92719258	G	A	G92719258A	BICD2	NM_001003800.2(BICD2):c.1387C>T:p.Arg463Cys	coding	Benign/Likely_benign
9	92719297	G	A	G92719297A	BICD2	NM_001003800.2(BICD2):c.1348C>T:p.Arg450Cys	coding	Benign
9	92719566	G	A	G92719566A	BICD2	NM_001003800.2(BICD2):c.1079C>T:p.Ala360Val	coding	Benign
9	92719693	C	G	C92719693G	BICD2	NM_001003800.2(BICD2):c.1063-111G>C	noncoding	Benign
9	92720254	G	C	G92720254C	BICD2	NM_001003800.2(BICD2):c.1062+46C>G	noncoding	Benign
9	92720312	C	T	C92720312T	BICD2	NM_001003800.2(BICD2):c.1050G>A:p.Gln350=	coding	Benign
9	92720318	C	T	C92720318T	BICD2	NM_001003800.2(BICD2):c.1044G>A:p.Leu348=	coding	Benign/Likely_benign
9	92720385	G	A	G92720385A	BICD2	NM_001003800.2(BICD2):c.977C>T:p.Ala326Val	coding	Benign
9	92720549	G	A	G92720549A	BICD2	NM_001003800.2(BICD2):c.813C>T:p.Phe271=	coding	Benign/Likely_benign
9	92722681	T	C	T92722681C	BICD2	NM_001003800.2(BICD2):c.581A>G:p.Gln194Arg	coding	Pathogenic
9	92722697	T	A	T92722697A	BICD2	NM_001003800.2(BICD2):c.565A>T:p.Ile189Phe	coding	Pathogenic
9	92722699	T	G	T92722699G	BICD2	NM_001003800.2(BICD2):c.563A>C:p.Asn188Thr	coding	Pathogenic
9	92722815	G	C	G92722815C	BICD2	NM_001003800.2(BICD2):c.454-7C>G	noncoding	Benign/Likely_benign
9	92728812	T	C	T92728812C	BICD2	NM_001003800.2(BICD2):c.453+212A>G	noncoding	Benign
9	92729157	G	A	G92729157A	BICD2	NM_001003800.2(BICD2):c.320C>T:p.Ser107Leu	coding	Pathogenic
9	92764385	G	C	G92764385C	BICD2	NM_001003800.2(BICD2):c.240+120C>G	noncoding	Benign
9	92764403	G	A	G92764403A	BICD2	NM_001003800.2(BICD2):c.240+102C>T	noncoding	Benign
9	92764497	C	A	C92764497A	BICD2	NM_001003800.2(BICD2):c.240+8G>T	noncoding	Benign/Likely_benign
9	92764673	G	C	G92764673C	BICD2	NM_001003800.2(BICD2):c.72C>G:p.Ala24=	coding	Benign/Likely_benign
9	93011245	C	T	C93011245T	FGD3	NM_001083536.2(FGD3):c.1008C>T:p.Asn336=	coding	Benign
9	93034624	G	T	G93034624T	FGD3	NM_001083536.2(FGD3):c.1869G>T:p.Val623=	coding	Benign
9	93234799	C	T	C93234799T	WNK2	NM_006648.3(WNK2):c.1076-9C>T	noncoding	Benign
9	93256461	G	A	G93256461A	WNK2	NM_006648.3(WNK2):c.2190+7G>A	noncoding	Benign
9	93259271	G	C	G93259271C	WNK2	NM_006648.3(WNK2):c.2723G>C:p.Gly908Ala	coding	Benign
9	93268679	C	T	C93268679T	WNK2	NM_006648.3(WNK2):c.3966C>T:p.Pro1322=	coding	Benign
9	93288984	G	A	G93288984A	WNK2	NM_006648.3(WNK2):c.4230G>A:p.Ala1410=	coding	Benign
9	93308395	G	A	G93308395A	WNK2	NM_006648.3(WNK2):c.6327G>A:p.Ala2109=	coding	Benign
9	93636532	T	A	T93636532A	PHF2	NM_005392.4(PHF2):c.299+7T>A	noncoding	Benign
9	93653375	G	A	G93653375A	PHF2	NM_005392.4(PHF2):c.789+10G>A	noncoding	Benign
9	93660207	G	A	G93660207A	PHF2	NM_005392.4(PHF2):c.1345G>A:p.Val449Ile	coding	Benign
9	93663633	C	T	C93663633T	PHF2	NM_005392.4(PHF2):c.1935C>T:p.Leu645=	coding	Benign
9	93666048	G	A	G93666048A	PHF2	NM_005392.4(PHF2):c.2175G>A:p.Ser725=	coding	Benign
9	93667106	G	A	G93667106A	PHF2	NM_005392.4(PHF2):c.2214G>A:p.Ser738=	coding	Benign
9	93673594	G	A	G93673594A	PHF2	NM_005392.4(PHF2):c.2358G>A:p.Pro786=	coding	Benign
9	93674979	G	A	G93674979A	PHF2	NM_005392.4(PHF2):c.2679G>A:p.Ser893=	coding	Benign
9	93676725	G	T	G93676725T	PHF2	NM_005392.4(PHF2):c.2964G>T:p.Pro988=	coding	Benign
9	94558939	T	C	T94558939C	FBP2	NM_003837.4(FBP2):c.1019A>G:p.Ter340Trp	coding	Benign
9	94567300	A	G	A94567300G	FBP2	NM_003837.4(FBP2):c.675T>C:p.Thr225=	coding	Benign
9	94603360	G	A	G94603360A	FBP1	NM_000507.4(FBP1):c.*21C>T	noncoding	Benign
9	94603438	T	C	T94603438C	FBP1	NM_000507.4(FBP1):c.960A>G:p.Gly320=	coding	Benign
9	94603533	T	A	T94603533A	FBP1	NM_000507.4(FBP1):c.865A>T:p.Met289Leu	coding	Benign/Likely_benign
9	94603547	G	C	G94603547C	FBP1	NM_000507.4(FBP1):c.851C>G:p.Pro284Arg	coding	Pathogenic
9	94603557	C	A	C94603557A	FBP1	NM_000507.4(FBP1):c.841G>T:p.Glu281Ter	coding	Pathogenic
9	94603557	C	T	C94603557T	FBP1	NM_000507.4(FBP1):c.841G>A:p.Glu281Lys	coding	Pathogenic/Likely_pathogenic
9	94603581	C	G	C94603581G	FBP1	NM_000507.4(FBP1):c.826-9G>C	noncoding	Benign/Likely_benign
9	94605456	C	T	C94605456T	FBP1	NM_000507.4(FBP1):c.825+1G>A	noncoding	Pathogenic
9	94605504	C	T	C94605504T	FBP1	NM_000507.4(FBP1):c.778G>A:p.Gly260Arg	coding	Pathogenic
9	94606801	G	A	G94606801A	FBP1	NM_000507.4(FBP1):c.705+14C>T	noncoding	Benign
9	94606823	A	T	A94606823T	FBP1	NM_000507.4(FBP1):c.697T>A:p.Phe233Ile	coding	Benign/Likely_benign
9	94606867	C	T	C94606867T	FBP1	NM_000507.4(FBP1):c.653G>A:p.Arg218Lys	coding	Benign
9	94606869	G	A	G94606869A	FBP1	NM_000507.4(FBP1):c.651C>T:p.Ala217=	coding	Benign
9	94606939	A	G	A94606939G	FBP1	NM_000507.4(FBP1):c.581T>C:p.Phe194Ser	coding	Pathogenic
9	94606943	C	A	C94606943A	FBP1	NM_000507.4(FBP1):c.577G>T:p.Glu193Ter	coding	Pathogenic
9	94609890	C	T	C94609890T	FBP1	NM_000507.4(FBP1):c.567+31G>A	noncoding	Benign
9	94609958	G	T	G94609958T	FBP1	NM_000507.4(FBP1):c.530C>A:p.Ala177Asp	coding	Pathogenic
9	94609998	C	T	C94609998T	FBP1	NM_000507.4(FBP1):c.490G>A:p.Gly164Ser	coding	Pathogenic
9	94610016	G	A	G94610016A	FBP1	NM_000507.4(FBP1):c.472C>T:p.Arg158Trp	coding	Pathogenic
9	94617761	G	A	G94617761A	FBP1	NM_000507.4(FBP1):c.426+7C>T	noncoding	Benign
9	94617839	C	T	C94617839T	FBP1	NM_000507.4(FBP1):c.355G>A:p.Asp119Asn	coding	Pathogenic/Likely_pathogenic
9	94620386	C	A	C94620386A	FBP1	NM_000507.4(FBP1):c.276G>T:p.Thr92=	coding	Benign
9	94639170	C	G	C94639170G	FBP1	NM_000507.4(FBP1):c.141G>C:p.Ser47=	coding	Benign
9	94639223	C	A	C94639223A	FBP1	NM_000507.4(FBP1):c.88G>T:p.Glu30Ter	coding	Pathogenic
9	94639504	G	A	G94639504A	FBP1	NM_000507.4(FBP1):c.-194C>T	noncoding	Benign
9	94640059	C	G	C94640059G	FBP1	NM_001127628.2(FBP1):c.-40G>C	noncoding	Benign
9	94760091	G	A	G94760091A	AOPEP	NM_032823.5(AOPEP):c.308G>A:p.Ser103Asn	coding	Benign
9	95099155	A	G	A95099155G	FANCC	NM_000136.3(FANCC):c.*2552T>C	noncoding	Benign
9	95099622	G	T	G95099622T	FANCC	NM_000136.3(FANCC):c.*2085C>A	noncoding	Benign
9	95099739	C	T	C95099739T	FANCC	NM_000136.3(FANCC):c.*1968G>A	noncoding	Benign
9	95099836	C	T	C95099836T	FANCC	NM_000136.3(FANCC):c.*1871G>A	noncoding	Benign
9	95099980	A	T	A95099980T	FANCC	NM_000136.3(FANCC):c.*1727T>A	noncoding	Benign
9	95100045	G	A	G95100045A	FANCC	NM_000136.3(FANCC):c.*1662C>T	noncoding	Benign
9	95100419	A	G	A95100419G	FANCC	NM_000136.3(FANCC):c.*1288T>C	noncoding	Benign
9	95101348	T	C	T95101348C	FANCC	NM_000136.3(FANCC):c.*359A>G	noncoding	Benign
9	95101591	T	G	T95101591G	FANCC	NM_000136.3(FANCC):c.*116A>C	noncoding	Benign
9	95101665	C	T	C95101665T	FANCC	NM_000136.3(FANCC):c.*42G>A	noncoding	Benign
9	95101702	G	A	G95101702A	FANCC	NM_000136.3(FANCC):c.*5C>T	noncoding	Benign/Likely_benign
9	95101723	A	G	A95101723G	FANCC	NM_000136.3(FANCC):c.1661T>C:p.Leu554Pro	coding	Pathogenic/Likely_pathogenic
9	95101742	G	A	G95101742A	FANCC	NM_000136.3(FANCC):c.1642C>T:p.Arg548Ter	coding	Pathogenic/Likely_pathogenic
9	95101756	G	T	G95101756T	FANCC	NM_000136.3(FANCC):c.1628C>A:p.Ser543Ter	coding	Pathogenic/Likely_pathogenic
9	95107065	C	A	C95107065A	FANCC	NM_000136.3(FANCC):c.1533+1G>T	noncoding	Pathogenic
9	95107105	A	C	A95107105C	FANCC	NM_000136.3(FANCC):c.1494T>G:p.Ala498=	coding	Pathogenic
9	95107112	A	C	A95107112C	FANCC	NM_000136.3(FANCC):c.1487T>G:p.Leu496Arg	coding	Pathogenic
9	95107114	C	T	C95107114T	FANCC	NM_000136.3(FANCC):c.1485G>A:p.Leu495=	coding	Benign/Likely_benign
9	95107192	C	T	C95107192T	FANCC	NM_000136.3(FANCC):c.1407G>A:p.Thr469=	coding	Benign/Likely_benign
9	95107205	T	C	T95107205C	FANCC	NM_000136.3(FANCC):c.1394A>G:p.Gln465Arg	coding	Benign/Likely_benign
9	95107206	G	A	G95107206A	FANCC	NM_000136.3(FANCC):c.1393C>T:p.Gln465Ter	coding	Pathogenic
9	95107254	C	T	C95107254T	FANCC	NM_000136.3(FANCC):c.1345G>A:p.Val449Met	coding	Benign
9	95107266	G	A	G95107266A	FANCC	NM_000136.3(FANCC):c.1333C>T:p.Gln445Ter	coding	Pathogenic/Likely_pathogenic
9	95107272	G	A	G95107272A	FANCC	NM_000136.3(FANCC):c.1330-3C>T	noncoding	Benign/Likely_benign
9	95111157	G	A	G95111157A	FANCC	NM_000136.3(FANCC):c.1329+306C>T	coding	Benign
9	95111251	G	A	G95111251A	FANCC	NM_000136.3(FANCC):c.1329+212C>T	coding	Benign
9	95111288	G	A	G95111288A	FANCC	NM_000136.3(FANCC):c.1329+175C>T	coding	Benign
9	95111352	G	A	G95111352A	FANCC	NM_000136.3(FANCC):c.1329+111C>T	noncoding	Benign
9	95111462	C	A	C95111462A	FANCC	NM_000136.3(FANCC):c.1329+1G>T	noncoding	Pathogenic/Likely_pathogenic
9	95111502	G	A	G95111502A	FANCC	NM_000136.3(FANCC):c.1290C>T:p.Tyr430=	coding	Benign/Likely_benign
9	95111502	G	T	G95111502T	FANCC	NM_000136.3(FANCC):c.1290C>A:p.Tyr430Ter	coding	Pathogenic
9	95111550	C	T	C95111550T	FANCC	NM_000136.3(FANCC):c.1242G>A:p.Ser414=	coding	Benign/Likely_benign
9	95111584	C	T	C95111584T	FANCC	NM_000136.3(FANCC):c.1208G>A:p.Trp403Ter	coding	Pathogenic
9	95111630	C	A	C95111630A	FANCC	NM_000136.3(FANCC):c.1162G>T:p.Gly388Ter	coding	Pathogenic/Likely_pathogenic
9	95111638	C	G	C95111638G	FANCC	NM_000136.3(FANCC):c.1155-1G>C	coding	Pathogenic
9	95111675	A	G	A95111675G	FANCC	NM_000136.3(FANCC):c.1155-38T>C	noncoding	Benign
9	95117318	G	A	G95117318A	FANCC	NM_000136.3(FANCC):c.1069C>T:p.Gln357Ter	coding	Pathogenic
9	95125086	C	T	C95125086T	FANCC	NM_000136.3(FANCC):c.996G>A:p.Gln332=	coding	Pathogenic
9	95125109	C	T	C95125109T	FANCC	NM_000136.3(FANCC):c.973G>A:p.Ala325Thr	coding	Benign/Likely_benign
9	95125124	G	A	G95125124A	FANCC	NM_000136.3(FANCC):c.958C>T:p.Gln320Ter	coding	Pathogenic
9	95125136	G	A	G95125136A	FANCC	NM_000136.3(FANCC):c.946C>T:p.Gln316Ter	coding	Pathogenic
9	95125186	C	T	C95125186T	FANCC	NM_000136.3(FANCC):c.897-1G>A	coding	Pathogenic
9	95125204	G	A	G95125204A	FANCC	NM_000136.3(FANCC):c.897-19C>T	noncoding	Benign
9	95126527	A	C	A95126527C	FANCC	NM_000136.3(FANCC):c.896+2T>G	noncoding	Pathogenic/Likely_pathogenic
9	95126578	G	A	G95126578A	FANCC	NM_000136.3(FANCC):c.847C>T:p.Gln283Ter	coding	Pathogenic
9	95126582	C	G	C95126582G	FANCC	NM_000136.3(FANCC):c.844-1G>C	coding	Pathogenic/Likely_pathogenic
9	95135221	C	T	C95135221T	FANCC	NM_000136.3(FANCC):c.843+125G>A	noncoding	Benign
9	95135342	G	A	G95135342A	FANCC	NM_000136.3(FANCC):c.843+4C>T	noncoding	Benign/Likely_benign
9	95135349	C	T	C95135349T	FANCC	NM_000136.3(FANCC):c.840G>A:p.Ser280=	coding	Benign/Likely_benign
9	95135353	G	T	G95135353T	FANCC	NM_000136.3(FANCC):c.836C>A:p.Ser279Ter	coding	Pathogenic
9	95135373	G	A	G95135373A	FANCC	NM_000136.3(FANCC):c.816C>T:p.Ile272=	coding	Benign/Likely_benign
9	95135460	C	T	C95135460T	FANCC	NM_000136.3(FANCC):c.729G>A:p.Trp243Ter	coding	Pathogenic
9	95135517	T	G	T95135517G	FANCC	NM_000136.3(FANCC):c.687-15A>C	noncoding	Benign
9	95149936	C	A	C95149936A	FANCC	NM_000136.3(FANCC):c.673G>T:p.Glu225Ter	coding	Pathogenic
9	95150056	G	A	G95150056A	FANCC	NM_000136.3(FANCC):c.553C>T:p.Arg185Ter	coding	Pathogenic
9	95150074	G	A	G95150074A	FANCC	NM_000136.3(FANCC):c.535C>T:p.Arg179Ter	coding	Pathogenic/Likely_pathogenic
9	95150078	G	A	G95150078A	FANCC	NM_000136.3(FANCC):c.531C>T:p.Pro177=	coding	Benign/Likely_benign
9	95171078	C	T	C95171078T	FANCC	NM_000136.3(FANCC):c.521+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	95171080	G	A	G95171080A	FANCC	NM_000136.3(FANCC):c.520C>T:p.Arg174Ter	coding	Pathogenic/Likely_pathogenic
9	95171132	T	C	T95171132C	FANCC	NM_000136.3(FANCC):c.468A>G:p.Ser156=	coding	Benign/Likely_benign
9	95171161	T	C	T95171161C	FANCC	NM_000136.3(FANCC):c.457-18A>G	noncoding	Benign
9	95172033	T	A	T95172033A	FANCC	NM_000136.3(FANCC):c.456+4A>T	noncoding	Pathogenic
9	95172042	T	A	T95172042A	FANCC	NM_000136.3(FANCC):c.451A>T:p.Lys151Ter	coding	Pathogenic
9	95172077	C	T	C95172077T	FANCC	NM_000136.3(FANCC):c.416G>A:p.Gly139Glu	coding	Benign/Likely_benign
9	95172085	T	C	T95172085C	FANCC	NM_000136.3(FANCC):c.408A>G:p.Gln136=	coding	Benign
9	95172140	A	C	A95172140C	FANCC	NM_000136.3(FANCC):c.353T>G:p.Leu118Ter	coding	Pathogenic
9	95172148	C	T	C95172148T	FANCC	NM_000136.3(FANCC):c.346-1G>A	coding	Pathogenic/Likely_pathogenic
9	95240655	C	T	C95240655T	FANCC	NM_000136.3(FANCC):c.339G>A:p.Trp113Ter	coding	Pathogenic
9	95240656	C	T	C95240656T	FANCC	NM_000136.3(FANCC):c.338G>A:p.Trp113Ter	coding	Pathogenic
9	95240671	G	C	G95240671C	FANCC	NM_000136.3(FANCC):c.323C>G:p.Ser108Ter	coding	Pathogenic
9	95240675	G	A	G95240675A	FANCC	NM_000136.3(FANCC):c.319C>T:p.Gln107Ter	coding	Pathogenic/Likely_pathogenic
9	95240745	T	C	T95240745C	FANCC	NM_000136.3(FANCC):c.251-2A>G	noncoding	Pathogenic
9	95240763	A	G	A95240763G	FANCC	NM_000136.3(FANCC):c.251-20T>C	noncoding	Benign
9	95249126	C	A	C95249126A	FANCC	NM_000136.3(FANCC):c.165+1G>T	noncoding	Pathogenic
9	95249153	T	A	T95249153A	FANCC	NM_000136.3(FANCC):c.139A>T:p.Lys47Ter	coding	Pathogenic
9	95249227	C	T	C95249227T	FANCC	NM_000136.3(FANCC):c.65G>A:p.Trp22Ter	coding	Pathogenic/Likely_pathogenic
9	95249255	G	A	G95249255A	FANCC	NM_000136.3(FANCC):c.37C>T:p.Gln13Ter	coding	Pathogenic/Likely_pathogenic
9	95249277	T	C	T95249277C	FANCC	NM_000136.3(FANCC):c.15A>G:p.Ser5=	coding	Benign/Likely_benign
9	95249320	T	G	T95249320G	FANCC	NM_000136.3(FANCC):c.-29A>C	noncoding	Benign
9	95317521	C	T	C95317521T	FANCC	NM_000136.3(FANCC):c.-79+5G>A	noncoding	Benign/Likely_benign
9	95317602	T	G	T95317602G	FANCC	NM_000136.3(FANCC):c.-155A>C	noncoding	Benign/Likely_benign
9	95443052	A	G	A95443052G	PTCH1	NM_000264.5(PTCH1):c.*3341T>C	noncoding	Benign
9	95443161	C	A	C95443161A	PTCH1	NM_000264.5(PTCH1):c.*3232G>T	noncoding	Benign
9	95443236	C	T	C95443236T	PTCH1	NM_000264.5(PTCH1):c.*3157G>A	noncoding	Benign
9	95443363	T	C	T95443363C	PTCH1	NM_000264.5(PTCH1):c.*3030A>G	noncoding	Benign
9	95444118	A	T	A95444118T	PTCH1	NM_000264.5(PTCH1):c.*2275T>A	noncoding	Benign
9	95444218	C	T	C95444218T	PTCH1	NM_000264.5(PTCH1):c.*2175G>A	noncoding	Benign
9	95444323	G	C	G95444323C	PTCH1	NM_000264.5(PTCH1):c.*2070C>G	noncoding	Benign
9	95444392	G	A	G95444392A	PTCH1	NM_000264.5(PTCH1):c.*2001C>T	noncoding	Benign
9	95444488	G	C	G95444488C	PTCH1	NM_000264.5(PTCH1):c.*1905C>G	noncoding	Benign
9	95444504	C	T	C95444504T	PTCH1	NM_000264.5(PTCH1):c.*1889G>A	noncoding	Benign/Likely_benign
9	95444684	C	T	C95444684T	PTCH1	NM_000264.5(PTCH1):c.*1709G>A	noncoding	Benign
9	95444685	G	A	G95444685A	PTCH1	NM_000264.5(PTCH1):c.*1708C>T	noncoding	Benign
9	95444691	G	A	G95444691A	PTCH1	NM_000264.5(PTCH1):c.*1702C>T	noncoding	Benign
9	95444777	T	G	T95444777G	PTCH1	NM_000264.5(PTCH1):c.*1616A>C	noncoding	Benign
9	95444848	A	G	A95444848G	PTCH1	NM_000264.5(PTCH1):c.*1545T>C	noncoding	Benign
9	95444858	A	G	A95444858G	PTCH1	NM_000264.5(PTCH1):c.*1535T>C	noncoding	Benign
9	95445020	C	G	C95445020G	PTCH1	NM_000264.5(PTCH1):c.*1373G>C	noncoding	Benign
9	95445327	T	G	T95445327G	PTCH1	NM_000264.5(PTCH1):c.*1066A>C	noncoding	Benign
9	95445542	C	G	C95445542G	PTCH1	NM_000264.5(PTCH1):c.*851G>C	noncoding	Benign
9	95445592	G	A	G95445592A	PTCH1	NM_000264.5(PTCH1):c.*801C>T	noncoding	Benign
9	95445606	G	A	G95445606A	PTCH1	NM_000264.5(PTCH1):c.*787C>T	noncoding	Benign/Likely_benign
9	95445613	G	A	G95445613A	PTCH1	NM_000264.5(PTCH1):c.*780C>T	noncoding	Benign
9	95446145	G	A	G95446145A	PTCH1	NM_000264.5(PTCH1):c.*248C>T	noncoding	Benign
9	95446156	C	G	C95446156G	PTCH1	NM_000264.5(PTCH1):c.*237G>C	noncoding	Benign
9	95446162	A	G	A95446162G	PTCH1	NM_000264.5(PTCH1):c.*231T>C	noncoding	Benign
9	95446240	A	G	A95446240G	PTCH1	NM_000264.5(PTCH1):c.*153T>C	noncoding	Benign/Likely_benign
9	95446288	C	T	C95446288T	PTCH1	NM_000264.5(PTCH1):c.*105G>A	noncoding	Benign
9	95446931	C	T	C95446931T	PTCH1	NM_000264.5(PTCH1):c.4325G>A:p.Arg1442Gln	coding	Benign/Likely_benign
9	95446932	G	A	G95446932A	PTCH1	NM_000264.5(PTCH1):c.4324C>T:p.Arg1442Trp	coding	Benign/Likely_benign
9	95447128	G	A	G95447128A	PTCH1	NM_000264.5(PTCH1):c.4128C>T:p.Ser1376=	coding	Benign/Likely_benign
9	95447176	G	A	G95447176A	PTCH1	NM_000264.5(PTCH1):c.4080C>T:p.Ser1360=	coding	Benign/Likely_benign
9	95447206	C	T	C95447206T	PTCH1	NM_000264.5(PTCH1):c.4050G>A:p.Arg1350=	coding	Benign/Likely_benign
9	95447208	G	A	G95447208A	PTCH1	NM_000264.5(PTCH1):c.4048C>T:p.Arg1350Trp	coding	Benign/Likely_benign
9	95447293	G	A	G95447293A	PTCH1	NM_000264.5(PTCH1):c.3963C>T:p.Asp1321=	coding	Benign/Likely_benign
9	95447302	C	T	C95447302T	PTCH1	NM_000264.5(PTCH1):c.3954G>A:p.Pro1318=	coding	Benign/Likely_benign
9	95447312	G	A	G95447312A	PTCH1	NM_000264.5(PTCH1):c.3944C>T:p.Pro1315Leu	coding	Benign
9	95447316	G	A	G95447316A	PTCH1	NM_000264.5(PTCH1):c.3940C>T:p.Pro1314Ser	coding	Benign/Likely_benign
9	95447349	G	A	G95447349A	PTCH1	NM_000264.5(PTCH1):c.3907C>T:p.Arg1303Cys	coding	Benign/Likely_benign
9	95447406	G	A	G95447406A	PTCH1	NM_000264.5(PTCH1):c.3850C>T:p.Gln1284Ter	coding	Pathogenic
9	95447411	G	A	G95447411A	PTCH1	NM_000264.5(PTCH1):c.3845C>T:p.Pro1282Leu	coding	Benign
9	95447417	G	A	G95447417A	PTCH1	NM_000264.5(PTCH1):c.3839C>T:p.Ser1280Leu	coding	Benign/Likely_benign
9	95447460	G	A	G95447460A	PTCH1	NM_000264.5(PTCH1):c.3805-9C>T	noncoding	Benign/Likely_benign
9	95447648	A	T	A95447648T	PTCH1	NM_000264.5(PTCH1):c.3805-197T>A	noncoding	Benign
9	95449037	A	G	A95449037G	PTCH1	NM_000264.5(PTCH1):c.3804+32T>C	noncoding	Benign
9	95449181	A	G	A95449181G	PTCH1	NM_000264.5(PTCH1):c.3692T>C:p.Val1231Ala	coding	Benign/Likely_benign
9	95449186	C	T	C95449186T	PTCH1	NM_000264.5(PTCH1):c.3687G>A:p.Thr1229=	coding	Benign/Likely_benign
9	95449198	A	T	A95449198T	PTCH1	NM_000264.5(PTCH1):c.3675T>A:p.Tyr1225Ter	coding	Pathogenic
9	95449225	G	A	G95449225A	PTCH1	NM_000264.5(PTCH1):c.3648C>T:p.Ser1216=	coding	Benign/Likely_benign
9	95449240	G	C	G95449240C	PTCH1	NM_000264.5(PTCH1):c.3633C>G:p.Pro1211=	coding	Benign/Likely_benign
9	95449267	G	A	G95449267A	PTCH1	NM_000264.5(PTCH1):c.3606C>T:p.Pro1202=	coding	Benign
9	95449290	T	A	T95449290A	PTCH1	NM_000264.5(PTCH1):c.3583A>T:p.Thr1195Ser	coding	Benign/Likely_benign
9	95449306	G	A	G95449306A	PTCH1	NM_000264.5(PTCH1):c.3567C>T:p.Gly1189=	coding	Benign
9	95449903	C	T	C95449903T	PTCH1	NM_000264.5(PTCH1):c.3487G>A:p.Gly1163Ser	coding	Benign/Likely_benign
9	95449941	C	T	C95449941T	PTCH1	NM_000264.5(PTCH1):c.3450-1G>A	coding	Pathogenic
9	95449942	T	C	T95449942C	PTCH1	NM_000264.5(PTCH1):c.3450-2A>G	noncoding	Pathogenic
9	95453349	T	C	T95453349C	PTCH1	NM_000264.5(PTCH1):c.3449+129A>G	noncoding	Benign
9	95453492	G	A	G95453492A	PTCH1	NM_000264.5(PTCH1):c.3435C>T:p.Phe1145=	coding	Benign/Likely_benign
9	95453540	G	A	G95453540A	PTCH1	NM_000264.5(PTCH1):c.3387C>T:p.Gly1129=	coding	Benign/Likely_benign
9	95453587	T	A	T95453587A	PTCH1	NM_000264.5(PTCH1):c.3340A>T:p.Arg1114Trp	coding	Pathogenic
9	95456342	G	A	G95456342A	PTCH1	NM_000264.5(PTCH1):c.3240C>T:p.Ala1080=	coding	Benign/Likely_benign
9	95456390	C	T	C95456390T	PTCH1	NM_000264.5(PTCH1):c.3192G>A:p.Thr1064=	coding	Benign/Likely_benign
9	95456418	A	G	A95456418G	PTCH1	NM_000264.5(PTCH1):c.3169-5T>C	noncoding	Benign/Likely_benign
9	95458011	A	G	A95458011G	PTCH1	NM_000264.5(PTCH1):c.3168+2T>C	noncoding	Pathogenic
9	95458029	C	T	C95458029T	PTCH1	NM_000264.5(PTCH1):c.3152G>A:p.Trp1051Ter	coding	Pathogenic
9	95458031	G	A	G95458031A	PTCH1	NM_000264.5(PTCH1):c.3150C>T:p.Pro1050=	coding	Benign/Likely_benign
9	95458040	A	C	A95458040C	PTCH1	NM_000264.5(PTCH1):c.3141T>G:p.Leu1047=	coding	Benign
9	95458074	A	T	A95458074T	PTCH1	NM_000264.5(PTCH1):c.3107T>A:p.Leu1036Ter	coding	Pathogenic
9	95458127	C	T	C95458127T	PTCH1	NM_000264.5(PTCH1):c.3054G>A:p.Trp1018Ter	coding	Pathogenic
9	95458142	G	T	G95458142T	PTCH1	NM_000264.5(PTCH1):c.3039C>A:p.Tyr1013Ter	coding	Pathogenic
9	95458154	G	T	G95458154T	PTCH1	NM_000264.5(PTCH1):c.3027C>A:p.Tyr1009Ter	coding	Pathogenic
9	95458178	A	T	A95458178T	PTCH1	NM_000264.5(PTCH1):c.3003T>A:p.Tyr1001Ter	coding	Pathogenic
9	95458207	C	A	C95458207A	PTCH1	NM_000264.5(PTCH1):c.2974G>T:p.Glu992Ter	coding	Pathogenic
9	95458216	C	A	C95458216A	PTCH1	NM_000264.5(PTCH1):c.2965G>T:p.Glu989Ter	coding	Pathogenic
9	95458236	C	T	C95458236T	PTCH1	NM_000264.5(PTCH1):c.2945G>A:p.Arg982Gln	coding	Benign
9	95458244	G	A	G95458244A	PTCH1	NM_000264.5(PTCH1):c.2937C>T:p.Asn979=	coding	Benign
9	95458268	A	G	A95458268G	PTCH1	NM_000264.5(PTCH1):c.2913T>C:p.Tyr971=	coding	Benign/Likely_benign
9	95458282	C	A	C95458282A	PTCH1	NM_000264.5(PTCH1):c.2899G>T:p.Glu967Ter	coding	Pathogenic
9	95458301	G	A	G95458301A	PTCH1	NM_000264.5(PTCH1):c.2888-8C>T	noncoding	Benign/Likely_benign
9	95459579	T	C	T95459579C	PTCH1	NM_000264.5(PTCH1):c.2887+21A>G	noncoding	Benign
9	95459654	G	A	G95459654A	PTCH1	NM_000264.5(PTCH1):c.2833C>T:p.Arg945Ter	coding	Pathogenic
9	95459685	A	C	A95459685C	PTCH1	NM_000264.5(PTCH1):c.2802T>G:p.Tyr934Ter	coding	Pathogenic
9	95459688	C	T	C95459688T	PTCH1	NM_000264.5(PTCH1):c.2799G>A:p.Ala933=	coding	Benign/Likely_benign
9	95459700	G	A	G95459700A	PTCH1	NM_000264.5(PTCH1):c.2787C>T:p.Asn929=	coding	Benign/Likely_benign
9	95459764	A	C	A95459764C	PTCH1	NM_000264.5(PTCH1):c.2723T>G:p.Val908Gly	coding	Pathogenic
9	95459789	A	G	A95459789G	PTCH1	NM_000264.5(PTCH1):c.2704-6T>C	noncoding	Benign
9	95461858	G	A	G95461858A	PTCH1	NM_000264.5(PTCH1):c.2701C>T:p.Gln901Ter	coding	Pathogenic
9	95461879	C	T	C95461879T	PTCH1	NM_000264.5(PTCH1):c.2680G>A:p.Asp894Asn	coding	Benign/Likely_benign
9	95461881	C	T	C95461881T	PTCH1	NM_000264.5(PTCH1):c.2678G>A:p.Arg893His	coding	Benign/Likely_benign
9	95461933	C	A	C95461933A	PTCH1	NM_000264.5(PTCH1):c.2626G>T:p.Gly876Ter	coding	Pathogenic
9	95461940	G	C	G95461940C	PTCH1	NM_000264.5(PTCH1):c.2619C>G:p.Tyr873Ter	coding	Pathogenic
9	95461964	G	A	G95461964A	PTCH1	NM_000264.5(PTCH1):c.2595C>T:p.Thr865=	coding	Benign/Likely_benign
9	95461971	C	T	C95461971T	PTCH1	NM_000264.5(PTCH1):c.2588G>A:p.Trp863Ter	coding	Pathogenic
9	95461999	C	T	C95461999T	PTCH1	NM_000264.5(PTCH1):c.2561-1G>A	coding	Pathogenic
9	95462000	T	C	T95462000C	PTCH1	NM_000264.5(PTCH1):c.2561-2A>G	noncoding	Pathogenic
9	95463784	G	A	G95463784A	PTCH1	NM_000264.5(PTCH1):c.2561-1786C>T	coding	Benign
9	95464025	C	T	C95464025T	PTCH1	NM_000264.5(PTCH1):c.2561-2027G>A	noncoding	Benign
9	95464113	A	C	A95464113C	PTCH1	NM_000264.5(PTCH1):c.2561-2115T>G	noncoding	Benign
9	95467107	C	G	C95467107G	PTCH1	NM_000264.5(PTCH1):c.2560+9G>C	coding	Benign
9	95467108	C	T	C95467108T	PTCH1	NM_000264.5(PTCH1):c.2560+8G>A	coding	Benign/Likely_benign
9	95467109	G	A	G95467109A	PTCH1	NM_000264.5(PTCH1):c.2560+7C>T	coding	Benign/Likely_benign
9	95467135	G	C	G95467135C	PTCH1	NM_000264.5(PTCH1):c.2541C>G:p.Tyr847Ter	coding	Pathogenic
9	95467161	G	A	G95467161A	PTCH1	NM_000264.5(PTCH1):c.2515C>T:p.Gln839Ter	coding	Pathogenic
9	95467170	C	A	C95467170A	PTCH1;LOC100507346	NM_000264.5(PTCH1):c.2506G>T:p.Glu836Ter	coding	Pathogenic
9	95467173	C	A	C95467173A	PTCH1	NM_000264.5(PTCH1):c.2503G>T:p.Glu835Ter	coding	Pathogenic
9	95467197	T	C	T95467197C	PTCH1	NM_000264.5(PTCH1):c.2479A>G:p.Ser827Gly	coding	Benign
9	95467216	G	T	G95467216T	PTCH1	NM_000264.5(PTCH1):c.2460C>A:p.Tyr820Ter	coding	Pathogenic
9	95467223	A	C	A95467223C	PTCH1	NM_000264.5(PTCH1):c.2453T>G:p.Leu818Ter	coding	Pathogenic
9	95467285	G	T	G95467285T	PTCH1	NM_000264.5(PTCH1):c.2391C>A:p.Tyr797Ter	coding	Pathogenic
9	95467296	G	A	G95467296A	PTCH1	NM_000264.5(PTCH1):c.2380C>T:p.Gln794Ter	coding	Pathogenic
9	95467317	C	A	C95467317A	PTCH1	NM_000264.5(PTCH1):c.2359G>T:p.Glu787Ter	coding	Pathogenic
9	95467357	G	A	G95467357A	PTCH1	NM_000264.5(PTCH1):c.2319C>T:p.Asp773=	coding	Benign/Likely_benign
9	95467368	G	A	G95467368A	PTCH1	NM_000264.5(PTCH1):c.2308C>T:p.Arg770Ter	coding	Pathogenic
9	95467372	G	A	G95467372A	PTCH1	NM_000264.5(PTCH1):c.2304C>T:p.Thr768=	coding	Benign/Likely_benign
9	95468625	T	C	T95468625C	PTCH1	NM_000264.5(PTCH1):c.2250+126A>G	noncoding	Benign
9	95468726	A	G	A95468726G	PTCH1	NM_000264.5(PTCH1):c.2250+25T>C	coding	Benign
9	95468779	G	A	G95468779A	PTCH1	NM_000264.5(PTCH1):c.2222C>T:p.Ala741Val	coding	Benign/Likely_benign
9	95468802	T	C	T95468802C	PTCH1	NM_000264.5(PTCH1):c.2199A>G:p.Ser733=	coding	Benign
9	95468803	G	T	G95468803T	PTCH1	NM_000264.5(PTCH1):c.2198C>A:p.Ser733Ter	coding	Pathogenic
9	95468811	C	T	C95468811T	PTCH1	NM_000264.5(PTCH1):c.2190G>A:p.Trp730Ter	coding	Pathogenic
9	95468818	G	A	G95468818A	PTCH1	NM_000264.5(PTCH1):c.2183C>T:p.Thr728Met	coding	Benign/Likely_benign
9	95468828	G	A	G95468828A	PTCH1	NM_000264.5(PTCH1):c.2173C>T:p.Pro725Ser	coding	Benign/Likely_benign
9	95468845	C	T	C95468845T	PTCH1	NM_000264.5(PTCH1):c.2156G>A:p.Ser719Asn	coding	Benign
9	95468896	G	C	G95468896C	PTCH1	NM_000264.5(PTCH1):c.2105C>G:p.Pro702Arg	coding	Benign/Likely_benign
9	95468921	G	A	G95468921A	PTCH1	NM_000264.5(PTCH1):c.2080C>T:p.Gln694Ter	coding	Pathogenic
9	95468939	G	A	G95468939A	PTCH1	NM_000264.5(PTCH1):c.2062C>T:p.Gln688Ter	coding	Pathogenic
9	95468952	G	A	G95468952A	PTCH1	NM_000264.5(PTCH1):c.2049C>T:p.Ser683=	coding	Benign/Likely_benign
9	95468997	G	A	G95468997A	PTCH1	NM_000264.5(PTCH1):c.2004C>T:p.Tyr668=	coding	Benign/Likely_benign
9	95469002	C	A	C95469002A	PTCH1	NM_000264.5(PTCH1):c.1999G>T:p.Glu667Ter	coding	Pathogenic
9	95469039	C	A	C95469039A	PTCH1	NM_000264.5(PTCH1):c.1962G>T:p.Thr654=	coding	Benign/Likely_benign
9	95469119	G	A	G95469119A	PTCH1	NM_000264.5(PTCH1):c.1882C>T:p.Gln628Ter	coding	Pathogenic
9	95469147	G	A	G95469147A	PTCH1	NM_000264.5(PTCH1):c.1854C>T:p.Cys618=	coding	Benign
9	95469626	G	A	G95469626A	PTCH1	NM_000264.5(PTCH1):c.1847+187C>T	coding	Benign
9	95469799	G	A	G95469799A	PTCH1	NM_000264.5(PTCH1):c.1847+14C>T	coding	Benign/Likely_benign
9	95469812	C	T	C95469812T	PTCH1	NM_000264.5(PTCH1):c.1847+1G>A	coding	Pathogenic
9	95469851	G	A	G95469851A	PTCH1	NM_000264.5(PTCH1):c.1809C>T:p.Arg603=	coding	Benign/Likely_benign
9	95469856	G	A	G95469856A	PTCH1	NM_000264.5(PTCH1):c.1804C>T:p.Arg602Ter	coding	Pathogenic
9	95476046	C	T	C95476046T	PTCH1	NM_000264.5(PTCH1):c.1716G>A:p.Ala572=	coding	Benign/Likely_benign
9	95476052	C	A	C95476052A	PTCH1	NM_000264.5(PTCH1):c.1710G>T:p.Leu570=	coding	Benign/Likely_benign
9	95476076	G	A	G95476076A	PTCH1	NM_000264.5(PTCH1):c.1686C>T:p.Ala562=	coding	Benign
9	95476097	A	G	A95476097G	PTCH1	NM_000264.5(PTCH1):c.1665T>C:p.Asn555=	coding	Benign
9	95476121	G	A	G95476121A	PTCH1	NM_000264.5(PTCH1):c.1641C>T:p.Ser547=	coding	Benign
9	95476161	T	C	T95476161C	PTCH1	NM_000264.5(PTCH1):c.1603-2A>G	noncoding	Pathogenic
9	95476161	T	G	T95476161G	PTCH1	NM_000264.5(PTCH1):c.1603-2A>C	noncoding	Pathogenic
9	95476776	T	A	T95476776A	PTCH1	NM_000264.5(PTCH1):c.1585A>T:p.Lys529Ter	coding	Pathogenic
9	95476782	G	A	G95476782A	PTCH1	NM_000264.5(PTCH1):c.1579C>T:p.Gln527Ter	coding	Pathogenic
9	95476835	C	T	C95476835T	PTCH1	NM_000264.5(PTCH1):c.1526G>A:p.Gly509Asp	coding	Pathogenic
9	95476859	T	G	T95476859G	PTCH1	NM_000264.5(PTCH1):c.1504-2A>C	noncoding	Pathogenic
9	95476865	A	G	A95476865G	PTCH1	NM_000264.5(PTCH1):c.1504-8T>C	noncoding	Benign
9	95477535	C	T	C95477535T	PTCH1	NM_000264.5(PTCH1):c.1503+12G>A	noncoding	Benign/Likely_benign
9	95477546	C	G	C95477546G	PTCH1	NM_000264.5(PTCH1):c.1503+1G>C	noncoding	Pathogenic/Likely_pathogenic
9	95477548	T	C	T95477548C	PTCH1	NM_000264.5(PTCH1):c.1502A>G:p.Gln501Arg	coding	Pathogenic
9	95477671	C	T	C95477671T	PTCH1	NM_000264.5(PTCH1):c.1379G>A:p.Trp460Ter	coding	Pathogenic
9	95477703	C	T	C95477703T	PTCH1	NM_000264.5(PTCH1):c.1348-1G>A	coding	Pathogenic
9	95477704	T	C	T95477704C	PTCH1	NM_000264.5(PTCH1):c.1348-2A>G	noncoding	Pathogenic
9	95477838	G	A	G95477838A	PTCH1	NM_000264.5(PTCH1):c.1348-136C>T	noncoding	Benign
9	95478177	G	A	G95478177A	PTCH1	NM_000264.5(PTCH1):c.1225C>T:p.Gln409Ter	coding	Pathogenic
9	95478187	C	T	C95478187T	PTCH1	NM_000264.5(PTCH1):c.1216-1G>A	coding	Pathogenic/Likely_pathogenic
9	95478192	G	T	G95478192T	PTCH1	NM_000264.5(PTCH1):c.1216-6C>A	noncoding	Benign/Likely_benign
9	95479006	A	C	A95479006C	PTCH1	NM_000264.5(PTCH1):c.1209T>G:p.Tyr403Ter	coding	Pathogenic
9	95479017	G	A	G95479017A	PTCH1	NM_000264.5(PTCH1):c.1198C>T:p.Gln400Ter	coding	Pathogenic
9	95479038	C	T	C95479038T	PTCH1	NM_000264.5(PTCH1):c.1177G>A:p.Ala393Thr	coding	Benign/Likely_benign
9	95479054	C	T	C95479054T	PTCH1	NM_000264.5(PTCH1):c.1161G>A:p.Trp387Ter	coding	Pathogenic
9	95479077	C	A	C95479077A	PTCH1	NM_000264.5(PTCH1):c.1138G>T:p.Glu380Ter	coding	Pathogenic
9	95479078	G	A	G95479078A	PTCH1	NM_000264.5(PTCH1):c.1137C>T:p.Tyr379=	coding	Benign/Likely_benign
9	95479096	G	A	G95479096A	PTCH1	NM_000264.5(PTCH1):c.1119C>T:p.Tyr373=	coding	Benign/Likely_benign
9	95479118	A	C	A95479118C	PTCH1	NM_000264.5(PTCH1):c.1097T>G:p.Leu366Ter	coding	Pathogenic
9	95479122	G	A	G95479122A	PTCH1	NM_000264.5(PTCH1):c.1093C>T:p.Gln365Ter	coding	Pathogenic
9	95479134	G	A	G95479134A	PTCH1	NM_000264.5(PTCH1):c.1081C>T:p.Gln361Ter	coding	Pathogenic
9	95479141	A	G	A95479141G	PTCH1	NM_000264.5(PTCH1):c.1074T>C:p.His358=	coding	Benign/Likely_benign
9	95479148	C	T	C95479148T	PTCH1	NM_000264.5(PTCH1):c.1068-1G>A	coding	Pathogenic
9	95479149	T	A	T95479149A	PTCH1	NM_000264.5(PTCH1):c.1068-2A>T	noncoding	Pathogenic
9	95479830	A	G	A95479830G	PTCH1	NM_000264.5(PTCH1):c.1067+139T>C	noncoding	Benign
9	95480014	A	T	A95480014T	PTCH1	NM_000264.5(PTCH1):c.1022T>A:p.Leu341Ter	coding	Pathogenic
9	95480024	G	A	G95480024A	PTCH1	NM_000264.5(PTCH1):c.1012C>T:p.Gln338Ter	coding	Pathogenic
9	95480034	A	C	A95480034C	PTCH1	NM_000264.5(PTCH1):c.1002T>G:p.Tyr334Ter	coding	Pathogenic
9	95480388	A	G	A95480388G	PTCH1	NM_000264.5(PTCH1):c.945+2T>C	noncoding	Pathogenic
9	95480389	C	T	C95480389T	PTCH1	NM_000264.5(PTCH1):c.945+1G>A	noncoding	Pathogenic
9	95480397	G	C	G95480397C	PTCH1	NM_000264.5(PTCH1):c.938C>G:p.Ser313Ter	coding	Pathogenic
9	95480462	G	C	G95480462C	PTCH1	NM_000264.5(PTCH1):c.873C>G:p.Tyr291Ter	coding	Pathogenic
9	95480527	T	A	T95480527A	PTCH1	NM_000264.5(PTCH1):c.808A>T:p.Lys270Ter	coding	Pathogenic
9	95480568	C	T	C95480568T	PTCH1	NM_000264.5(PTCH1):c.767G>A:p.Trp256Ter	coding	Pathogenic
9	95480702	G	A	G95480702A	PTCH1	NM_000264.5(PTCH1):c.747-114C>T	noncoding	Benign
9	95481948	C	G	C95481948G	PTCH1	NM_000264.5(PTCH1):c.746+1G>C	noncoding	Pathogenic
9	95481954	G	T	G95481954T	PTCH1	NM_000264.5(PTCH1):c.741C>A:p.Tyr247Ter	coding	Pathogenic
9	95481960	T	C	T95481960C	PTCH1	NM_000264.5(PTCH1):c.735A>G:p.Thr245=	coding	Benign
9	95481971	G	A	G95481971A	PTCH1	NM_000264.5(PTCH1):c.724C>T:p.Gln242Ter	coding	Pathogenic
9	95481987	C	T	C95481987T	PTCH1	NM_000264.5(PTCH1):c.708G>A:p.Trp236Ter	coding	Pathogenic
9	95481988	C	T	C95481988T	PTCH1	NM_000264.5(PTCH1):c.707G>A:p.Trp236Ter	coding	Pathogenic
9	95482015	A	T	A95482015T	PTCH1	NM_000264.5(PTCH1):c.680T>A:p.Leu227Ter	coding	Pathogenic
9	95482023	G	T	G95482023T	PTCH1	NM_000264.5(PTCH1):c.672C>A:p.Tyr224Ter	coding	Pathogenic
9	95482029	A	T	A95482029T	PTCH1	NM_000264.5(PTCH1):c.666T>A:p.Tyr222Ter	coding	Pathogenic
9	95482034	C	A	C95482034A	PTCH1	NM_000264.5(PTCH1):c.661G>T:p.Glu221Ter	coding	Pathogenic
9	95482176	G	C	G95482176C	PTCH1	NM_000264.5(PTCH1):c.612C>G:p.Tyr204Ter	coding	Pathogenic
9	95482198	C	T	C95482198T	PTCH1	NM_000264.5(PTCH1):c.590G>A:p.Trp197Ter	coding	Pathogenic
9	95482204	C	G	C95482204G	PTCH1	NM_000264.5(PTCH1):c.585-1G>C	coding	Pathogenic
9	95485508	C	T	C95485508T	PTCH1	NM_000264.5(PTCH1):c.584+177G>A	noncoding	Benign
9	95485690	G	T	G95485690T	PTCH1	NM_000264.5(PTCH1):c.579C>A:p.Tyr193Ter	coding	Pathogenic
9	95485702	A	G	A95485702G	PTCH1	NM_000264.5(PTCH1):c.567T>C:p.His189=	coding	Benign/Likely_benign
9	95485761	G	C	G95485761C	PTCH1	NM_000264.5(PTCH1):c.508C>G:p.Leu170Val	coding	Benign
9	95485821	C	A	C95485821A	PTCH1	NM_000264.5(PTCH1):c.448G>T:p.Glu150Ter	coding	Pathogenic
9	95485836	G	A	G95485836A	PTCH1	NM_000264.5(PTCH1):c.433C>T:p.Gln145Ter	coding	Pathogenic
9	95485866	G	A	G95485866A	PTCH1	NM_000264.5(PTCH1):c.403C>T:p.Arg135Ter	coding	Pathogenic
9	95486046	A	G	A95486046G	PTCH1	NM_000264.5(PTCH1):c.395-172T>C	noncoding	Benign
9	95486105	A	G	A95486105G	PTCH1	NM_000264.5(PTCH1):c.395-231T>C	noncoding	Benign
9	95506406	C	T	C95506406T	PTCH1	NM_000264.5(PTCH1):c.394+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	95506414	C	T	C95506414T	PTCH1	NM_000264.5(PTCH1):c.387G>A:p.Trp129Ter	coding	Pathogenic
9	95506454	A	T	A95506454T	PTCH1	NM_000264.5(PTCH1):c.347T>A:p.Leu116Ter	coding	Pathogenic
9	95506458	C	A	C95506458A	PTCH1	NM_000264.5(PTCH1):c.343G>T:p.Gly115Ter	coding	Pathogenic
9	95506483	G	A	G95506483A	PTCH1	NM_000264.5(PTCH1):c.318C>T:p.Leu106=	coding	Benign
9	95506507	G	T	G95506507T	PTCH1	NM_000264.5(PTCH1):c.294C>A:p.Cys98Ter	coding	Pathogenic
9	95506518	G	A	G95506518A	PTCH1	NM_000264.5(PTCH1):c.283C>T:p.Gln95Ter	coding	Pathogenic
9	95506567	C	T	C95506567T	PTCH1	NM_000264.5(PTCH1):c.234G>A:p.Trp78Ter	coding	Pathogenic
9	95506568	C	T	C95506568T	PTCH1	NM_000264.5(PTCH1):c.233G>A:p.Trp78Ter	coding	Pathogenic
9	95506601	T	C	T95506601C	PTCH1	NM_000264.5(PTCH1):c.202-2A>G	noncoding	Pathogenic/Likely_pathogenic
9	95506601	T	G	T95506601G	PTCH1	NM_000264.5(PTCH1):c.202-2A>C	noncoding	Pathogenic
9	95508175	C	A	C95508175A	PTCH1	NM_000264.5(PTCH1):c.187G>T:p.Glu63Ter	coding	Pathogenic
9	95508253	C	G	C95508253G	PTCH1	NM_000264.5(PTCH1):c.109G>C:p.Gly37Arg	coding	Benign
9	95516658	C	G	C95516658G	PTCH1	NM_001083603.1(PTCH1):c.163G>C:p.Asp55His	coding	Benign
9	95516690	T	C	T95516690C	PTCH1	NM_001083603.1(PTCH1):c.131A>G:p.Glu44Gly	coding	Benign
9	95517088	T	A	T95517088A	PTCH1	NC_000009.12:g.95517088T>A	noncoding	Benign
9	95876026	T	A	T95876026A	ERCC6L2	NM_020207.7(ERCC6L2):c.-13T>A	coding	Benign
9	95876027	C	A	C95876027A	ERCC6L2	NM_020207.7(ERCC6L2):c.-12C>A	coding	Benign
9	95876031	C	G	C95876031G	ERCC6L2	NM_020207.7(ERCC6L2):c.-8C>G	coding	Benign
9	95876059	G	C	G95876059C	ERCC6L2	NM_020207.5(ERCC6L2):c.54G>C:p.Gln18His	coding	Benign/Likely_benign
9	95881197	C	G	C95881197G	ERCC6L2	NM_020207.7(ERCC6L2):c.375C>G:p.Asp125Glu	coding	Benign
9	95881201	C	G	C95881201G	ERCC6L2	NM_020207.7(ERCC6L2):c.379C>G:p.Gln127Glu	coding	Benign
9	95881229	G	A	G95881229A	ERCC6L2	NM_020207.7(ERCC6L2):c.407G>A:p.Gly136Glu	coding	Benign
9	95915664	A	G	A95915664G	ERCC6L2	NM_020207.7(ERCC6L2):c.789-4A>G	noncoding	Benign
9	95916371	T	C	T95916371C	ERCC6L2	NM_020207.7(ERCC6L2):c.1095T>C:p.Ser365=	coding	Benign
9	95916416	G	C	G95916416C	ERCC6L2	NM_020207.7(ERCC6L2):c.1140G>C:p.Leu380Phe	coding	Benign
9	95921268	C	A	C95921268A	ERCC6L2	NM_020207.7(ERCC6L2):c.1252C>A:p.Pro418Thr	coding	Benign
9	95955996	C	T	C95955996T	ERCC6L2	NM_020207.5(ERCC6L2):c.1963C>T:p.Arg655Ter	coding	Pathogenic
9	96235528	C	T	C96235528T	HSD17B3	NM_000197.2(HSD17B3):c.865G>A:p.Gly289Ser	coding	Benign/Likely_benign
9	96235548	G	A	G96235548A	HSD17B3	NM_000197.2(HSD17B3):c.845C>T:p.Pro282Leu	coding	Pathogenic
9	96240776	G	A	G96240776A	HSD17B3	NM_000197.2(HSD17B3):c.804C>T:p.Cys268=	coding	Benign
9	96240777	C	T	C96240777T	HSD17B3	NM_000197.2(HSD17B3):c.803G>A:p.Cys268Tyr	coding	Pathogenic
9	96240877	T	C	T96240877C	HSD17B3	NM_000197.2(HSD17B3):c.703A>G:p.Met235Val	coding	Pathogenic
9	96240885	G	A	G96240885A	HSD17B3	NM_000197.2(HSD17B3):c.695C>T:p.Ser232Leu	coding	Pathogenic
9	96244296	T	C	T96244296C	HSD17B3	NM_000197.2(HSD17B3):c.672+33A>G	noncoding	Benign
9	96244387	A	T	A96244387T	HSD17B3	NM_000197.2(HSD17B3):c.614T>A:p.Val205Glu	coding	Pathogenic
9	96244393	G	A	G96244393A	HSD17B3	NM_000197.2(HSD17B3):c.608C>T:p.Ala203Val	coding	Pathogenic
9	96244395	C	T	C96244395T	HSD17B3	NM_000197.2(HSD17B3):c.607-1G>A	coding	Pathogenic
9	96249787	C	T	C96249787T	HSD17B3	NM_000197.2(HSD17B3):c.454-1G>A	coding	Pathogenic
9	96251381	A	G	A96251381G	HSD17B3	NM_000197.2(HSD17B3):c.453+37T>C	noncoding	Benign
9	96251474	C	T	C96251474T	HSD17B3	NM_000197.2(HSD17B3):c.397G>A:p.Gly133Arg	coding	Pathogenic
9	96251482	T	C	T96251482C	HSD17B3	NM_000197.2(HSD17B3):c.389A>G:p.Asn130Ser	coding	Pathogenic
9	96252855	G	A	G96252855A	HSD17B3	NM_000197.2(HSD17B3):c.333C>T:p.Asp111=	coding	Benign/Likely_benign
9	96252911	C	G	C96252911G	HSD17B3	NM_000197.2(HSD17B3):c.278-1G>C	coding	Pathogenic
9	96254864	T	A	T96254864A	HSD17B3	NM_000197.2(HSD17B3):c.277+4A>T	noncoding	Pathogenic
9	96254906	C	T	C96254906T	HSD17B3	NM_000197.2(HSD17B3):c.239G>A:p.Arg80Gln	coding	Pathogenic
9	96254907	G	A	G96254907A	HSD17B3	NM_000197.2(HSD17B3):c.238C>T:p.Arg80Trp	coding	Pathogenic/Likely_pathogenic
9	96254944	C	T	C96254944T	HSD17B3	NM_000197.2(HSD17B3):c.202-1G>A	coding	Pathogenic
9	96298422	C	T	C96298422T	HSD17B3	NM_000197.2(HSD17B3):c.195G>A:p.Ser65=	coding	Benign
9	96298451	C	T	C96298451T	HSD17B3	NM_000197.2(HSD17B3):c.166G>A:p.Ala56Thr	coding	Pathogenic
9	96302014	C	T	C96302014T	HSD17B3	NM_000197.2(HSD17B3):c.91G>A:p.Val31Ile	coding	Benign
9	96302114	C	G	C96302114G	HSD17B3	NM_000197.2(HSD17B3):c.-10G>C	noncoding	Benign
9	96302133	T	C	T96302133C	HSD17B3	NM_000197.2(HSD17B3):c.-29A>G	noncoding	Benign
9	96302143	T	C	T96302143C	HSD17B3	NM_000197.2(HSD17B3):c.-39A>G	noncoding	Benign
9	97036607	A	G	A97036607G	CTSV	NM_001333.4(CTSV):c.537T>C:p.Asn179=	coding	Benign
9	97412112	C	G	C97412112G	TDRD7	NM_014290.3(TDRD7):c.-133C>G	noncoding	Benign
9	97428498	A	G	A97428498G	TDRD7	NM_014290.3(TDRD7):c.33A>G:p.Leu11=	coding	Benign
9	97428690	C	T	C97428690T	TDRD7	NM_014290.3(TDRD7):c.207+18C>T	noncoding	Benign
9	97428691	G	A	G97428691A	TDRD7	NM_014290.3(TDRD7):c.207+19G>A	noncoding	Benign
9	97432015	A	G	A97432015G	TDRD7	NM_014290.3(TDRD7):c.350-10A>G	noncoding	Benign
9	97432124	T	C	T97432124C	TDRD7	NM_014290.3(TDRD7):c.449T>C:p.Val150Ala	coding	Benign
9	97432218	G	A	G97432218A	TDRD7	NM_014290.3(TDRD7):c.543G>A:p.Val181=	coding	Benign
9	97432252	G	A	G97432252A	TDRD7	NM_014290.3(TDRD7):c.563+14G>A	noncoding	Benign
9	97439269	A	G	A97439269G	TDRD7	NM_014290.3(TDRD7):c.588A>G:p.Gln196=	coding	Benign
9	97439286	A	G	A97439286G	TDRD7	NM_014290.3(TDRD7):c.605A>G:p.His202Arg	coding	Benign
9	97460234	G	A	G97460234A	TDRD7	NM_014290.3(TDRD7):c.912G>A:p.Lys304=	coding	Benign
9	97465035	A	G	A97465035G	TDRD7	NM_014290.3(TDRD7):c.1629+7A>G	noncoding	Benign
9	97472351	T	C	T97472351C	TDRD7	NM_014290.3(TDRD7):c.1800T>C:p.Cys600=	coding	Benign/Likely_benign
9	97472420	A	G	A97472420G	TDRD7	NM_014290.3(TDRD7):c.1869A>G:p.Ser623=	coding	Benign
9	97472474	G	A	G97472474A	TDRD7	NM_014290.3(TDRD7):c.1923G>A:p.Lys641=	coding	Benign
9	97473635	G	A	G97473635A	TDRD7	NM_014290.3(TDRD7):c.2079+9G>A	noncoding	Benign
9	97482925	G	A	G97482925A	TDRD7	NM_014290.3(TDRD7):c.2489G>A:p.Arg830His	coding	Benign
9	97675161	A	G	A97675161G	XPA	NM_000380.3(XPA):c.*278T>C	noncoding	Benign
9	97675205	G	T	G97675205T	XPA	NM_000380.3(XPA):c.*234C>A	noncoding	Benign
9	97675236	G	C	G97675236C	XPA	NM_000380.3(XPA):c.*203C>G	noncoding	Benign
9	97675495	T	C	T97675495C	XPA	NM_000380.3(XPA):c.766A>G:p.Met256Val	coding	Benign/Likely_benign
9	97675507	G	C	G97675507C	XPA	NM_000380.3(XPA):c.754C>G:p.Leu252Val	coding	Benign/Likely_benign
9	97675579	G	A	G97675579A	XPA	NM_000380.3(XPA):c.682C>T:p.Arg228Ter	coding	Pathogenic
9	97675584	A	T	A97675584T	XPA	NM_000380.3(XPA):c.677T>A:p.Leu226Ter	coding	Pathogenic/Likely_pathogenic
9	97684965	G	A	G97684965A	XPA	NM_000380.3(XPA):c.631C>T:p.Arg211Ter	coding	Pathogenic/Likely_pathogenic
9	97684977	G	A	G97684977A	XPA	NM_000380.3(XPA):c.619C>T:p.Arg207Ter	coding	Pathogenic
9	97687088	T	C	T97687088C	XPA	NM_000380.4(XPA):c.555+8A>G	noncoding	Pathogenic
9	97687096	C	G	C97687096G	XPA	NM_000380.3(XPA):c.555G>C:p.Gln185His	coding	Pathogenic/Likely_pathogenic
9	97687098	G	A	G97687098A	XPA	NM_000380.3(XPA):c.553C>T:p.Gln185Ter	coding	Pathogenic
9	97687154	A	G	A97687154G	XPA	NM_000380.3(XPA):c.497T>C:p.Val166Ala	coding	Benign
9	97687262	C	G	C97687262G	XPA	NM_000380.3(XPA):c.390-1G>C	coding	Pathogenic
9	97689575	A	T	A97689575T	XPA	NM_000380.3(XPA):c.348T>A:p.Tyr116Ter	coding	Pathogenic
9	97689592	C	A	C97689592A	XPA	NM_000380.3(XPA):c.331G>T:p.Glu111Ter	coding	Pathogenic
9	97689634	C	T	C97689634T	XPA	NM_000380.4(XPA):c.289G>A:p.Val97Ile	coding	Benign/Likely_benign
9	97697119	A	C	A97697119C	XPA	NM_000380.3(XPA):c.172+2T>G	noncoding	Pathogenic
9	97697296	T	C	T97697296C	XPA	NM_000380.3(XPA):c.-4A>G	noncoding	Benign
9	97854084	G	A	G97854084A	FOXE1	NM_004473.4(FOXE1):c.170G>A:p.Ser57Asn	coding	Pathogenic
9	97854108	C	T	C97854108T	FOXE1	NM_004473.4(FOXE1):c.194C>T:p.Ala65Val	coding	Pathogenic
9	97854199	A	G	A97854199G	FOXE1	NM_004473.4(FOXE1):c.285A>G:p.Lys95=	coding	Benign/Likely_benign
9	97854218	C	T	C97854218T	FOXE1	NM_004473.4(FOXE1):c.304C>T:p.Arg102Cys	coding	Pathogenic
9	97854301	T	C	T97854301C	FOXE1	NM_004473.4(FOXE1):c.387T>C:p.Leu129=	coding	Benign
9	97854385	C	T	C97854385T	FOXE1	NM_004473.4(FOXE1):c.471C>T:p.Tyr157=	coding	Benign
9	97854483	C	G	C97854483G	FOXE1	NM_004473.4(FOXE1):c.569C>G:p.Pro190Arg	coding	Benign
9	97854739	C	T	C97854739T	FOXE1	NM_004473.4(FOXE1):c.825C>T:p.Ser275=	coding	Benign
9	97854760	G	A	G97854760A	FOXE1	NM_004473.4(FOXE1):c.846G>A:p.Ala282=	coding	Benign
9	97913495	C	T	C97913495T	TRMO	NM_016481.5(TRMO):c.315G>A:p.Arg105=	coding	Benign
9	97930048	A	G	A97930048G	HEMGN	NM_197978.3(HEMGN):c.1347T>C:p.Tyr449=	coding	Benign
9	97930366	G	T	G97930366T	HEMGN	NM_197978.3(HEMGN):c.1029C>A:p.Ile343=	coding	Benign
9	98005025	A	C	A98005025C	ANP32B	NM_006401.3(ANP32B):c.389A>C:p.Asp130Ala	coding	Benign
9	98011296	C	T	C98011296T	ANP32B	NM_006401.3(ANP32B):c.543C>T:p.Asp181=	coding	Benign
9	98056937	C	T	C98056937T	NANS	NM_018946.4(NANS):c.129C>T:p.Ala43=	coding	Benign
9	98076920	G	A	G98076920A	NANS	NM_018946.4(NANS):c.351G>A:p.Met117Ile	coding	Benign
9	98076967	G	T	G98076967T	NANS	NM_018946.4(NANS):c.398G>T:p.Gly133Val	coding	Pathogenic
9	98077018	G	A	G98077018A	NANS	NM_018946.4(NANS):c.448+1G>A	coding	Pathogenic
9	98078196	G	A	G98078196A	NANS	NM_018946.4(NANS):c.452G>A:p.Arg151His	coding	Pathogenic
9	98078264	C	T	C98078264T	NANS	NM_018946.4(NANS):c.520C>T:p.Pro174Ser	coding	Benign
9	98078306	T	C	T98078306C	NANS	NM_018946.4(NANS):c.562T>C:p.Tyr188His	coding	Pathogenic
9	98080896	G	A	G98080896A	NANS	NM_018946.4(NANS):c.684G>A:p.Val228=	coding	Benign
9	98080921	C	T	C98080921T	NANS	NM_018946.4(NANS):c.709C>T:p.Arg237Cys	coding	Pathogenic
9	98080956	T	C	T98080956C	NANS	NM_018946.4(NANS):c.744T>C:p.Ser248=	coding	Benign
9	98081086	T	C	T98081086C	NANS	NM_018946.4(NANS):c.870+4T>C	noncoding	Benign
9	98081089	C	G	C98081089G	NANS	NM_018946.4(NANS):c.870+7C>G	noncoding	Benign
9	98083020	T	C	T98083020C	NANS	NM_018946.4(NANS):c.1045T>C:p.Leu349=	coding	Benign
9	98087944	A	G	A98087944G	TRIM14	NM_014788.4(TRIM14):c.855T>C:p.Asp285=	coding	Benign
9	98199422	C	T	C98199422T	TBC1D2	NM_001267571.2(TBC1D2):c.2746G>A:p.Glu916Lys	coding	Benign
9	98199487	C	T	C98199487T	TBC1D2	NM_001267571.2(TBC1D2):c.2681G>A:p.Arg894Gln	coding	Benign
9	98201496	G	A	G98201496A	TBC1D2	NM_001267571.2(TBC1D2):c.2440C>T:p.Leu814=	coding	Benign
9	98210754	G	C	G98210754C	TBC1D2	NM_001267571.2(TBC1D2):c.1575C>G:p.Ala525=	coding	Benign
9	98210833	A	C	A98210833C	TBC1D2	NM_001267571.2(TBC1D2):c.1496T>G:p.Leu499Arg	coding	Benign
9	98220933	A	G	A98220933G	TBC1D2	NM_001267571.2(TBC1D2):c.1274T>C:p.Val425Ala	coding	Benign
9	98220947	C	T	C98220947T	TBC1D2	NM_001267571.2(TBC1D2):c.1260G>A:p.Lys420=	coding	Benign
9	98221047	G	A	G98221047A	TBC1D2	NM_001267571.2(TBC1D2):c.1160C>T:p.Ala387Val	coding	Benign
9	98255395	A	G	A98255395G	TBC1D2	NM_001267571.2(TBC1D2):c.147T>C:p.Cys49=	coding	Benign
9	98293775	A	C	A98293775C	GABBR2	NM_005458.8(GABBR2):c.2660+10T>G	noncoding	Benign
9	98293810	T	C	T98293810C	GABBR2	NM_005458.8(GABBR2):c.2635A>G:p.Ile879Val	coding	Benign
9	98293826	T	C	T98293826C	GABBR2	NM_005458.8(GABBR2):c.2619A>G:p.Arg873=	coding	Benign
9	98293870	C	T	C98293870T	GABBR2	NM_005458.8(GABBR2):c.2575G>A:p.Asp859Asn	coding	Benign
9	98293891	C	T	C98293891T	GABBR2	NM_005458.8(GABBR2):c.2554G>A:p.Ala852Thr	coding	Benign
9	98303236	G	A	G98303236A	GABBR2	NM_005458.8(GABBR2):c.2412+5C>T	noncoding	Benign
9	98306231	C	T	C98306231T	GABBR2	NM_005458.8(GABBR2):c.2119G>A:p.Ala707Thr	coding	Pathogenic
9	98306236	A	T	A98306236T	GABBR2	NM_005458.8(GABBR2):c.2114T>A:p.Ile705Asn	coding	Pathogenic
9	98306266	C	A	C98306266A	GABBR2	NM_005458.8(GABBR2):c.2084G>T:p.Ser695Ile	coding	Pathogenic
9	98306273	C	A	C98306273A	GABBR2	NM_005458.8(GABBR2):c.2077G>T:p.Gly693Trp	coding	Pathogenic
9	98311161	C	T	C98311161T	GABBR2	NM_005458.8(GABBR2):c.1938G>A:p.Glu646=	coding	Benign
9	98371535	C	T	C98371535T	GABBR2	NM_005458.8(GABBR2):c.1699G>A:p.Ala567Thr	coding	Pathogenic
9	98385715	G	A	G98385715A	GABBR2	NM_005458.8(GABBR2):c.1587C>T:p.Leu529=	coding	Benign
9	98385778	A	G	A98385778G	GABBR2	NM_005458.8(GABBR2):c.1530-6T>C	noncoding	Benign
9	98388863	C	T	C98388863T	GABBR2	NM_005458.8(GABBR2):c.1520G>A:p.Arg507Gln	coding	Benign
9	98388910	G	A	G98388910A	GABBR2	NM_005458.8(GABBR2):c.1473C>T:p.Leu491=	coding	Benign
9	98389000	G	A	G98389000A	GABBR2	NM_005458.8(GABBR2):c.1383C>T:p.Ser461=	coding	Benign
9	98406149	C	T	C98406149T	GABBR2	NM_005458.8(GABBR2):c.1237-8G>A	noncoding	Benign
9	98473261	G	A	G98473261A	GABBR2	NM_005458.8(GABBR2):c.884C>T:p.Thr295Met	coding	Benign
9	98541869	G	A	G98541869A	GABBR2	NM_005458.8(GABBR2):c.630+4C>T	noncoding	Benign
9	98541890	C	T	C98541890T	GABBR2	NM_005458.8(GABBR2):c.613G>A:p.Val205Ile	coding	Benign
9	98542020	A	G	A98542020G	GABBR2	NM_005458.8(GABBR2):c.483T>C:p.Pro161=	coding	Benign
9	98736522	C	T	C98736522T	ANKS6	NM_173551.5(ANKS6):c.2613G>A:p.Ala871=	coding	Benign/Likely_benign
9	98736625	T	G	T98736625G	ANKS6	NM_173551.5(ANKS6):c.2512-2A>C	noncoding	Pathogenic
9	98756543	G	C	G98756543C	ANKS6	NM_173551.5(ANKS6):c.2203C>G:p.Pro735Ala	coding	Benign
9	98770938	C	T	C98770938T	ANKS6	NM_173551.5(ANKS6):c.1930G>A:p.Val644Ile	coding	Benign
9	98771014	G	A	G98771014A	ANKS6	NM_173551.5(ANKS6):c.1854C>T:p.Leu618=	coding	Benign
9	98771040	C	T	C98771040T	ANKS6	NM_173551.5(ANKS6):c.1828G>A:p.Val610Ile	coding	Benign
9	98773916	G	A	G98773916A	ANKS6	NM_173551.5(ANKS6):c.1782C>T:p.Ala594=	coding	Benign
9	98773931	C	T	C98773931T	ANKS6	NM_173551.5(ANKS6):c.1767G>A:p.Ala589=	coding	Benign
9	98773958	G	A	G98773958A	ANKS6	NM_173551.5(ANKS6):c.1740C>T:p.Asn580=	coding	Benign/Likely_benign
9	98774018	T	C	T98774018C	ANKS6	NM_173551.5(ANKS6):c.1680A>G:p.Pro560=	coding	Benign
9	98778228	T	C	T98778228C	ANKS6	NM_173551.5(ANKS6):c.1565A>G:p.Asn522Ser	coding	Benign
9	98778260	T	G	T98778260G	ANKS6	NM_173551.5(ANKS6):c.1533A>C:p.Ala511=	coding	Benign/Likely_benign
9	98778325	C	T	C98778325T	ANKS6	NM_173551.5(ANKS6):c.1468G>A:p.Glu490Lys	coding	Benign
9	98778412	G	A	G98778412A	ANKS6	NM_173551.5(ANKS6):c.1381C>T:p.Arg461Ter	coding	Pathogenic
9	98780235	T	C	T98780235C	ANKS6	NM_173551.5(ANKS6):c.1322A>G:p.Gln441Arg	coding	Benign
9	98782561	A	G	A98782561G	ANKS6	NM_173551.5(ANKS6):c.1125T>C:p.Ile375=	coding	Benign
9	98784057	C	T	C98784057T	ANKS6	NM_173551.5(ANKS6):c.1008G>A:p.Thr336=	coding	Benign
9	98784090	G	A	G98784090A	ANKS6	NM_173551.5(ANKS6):c.975C>T:p.Asp325=	coding	Benign
9	98790084	C	T	C98790084T	ANKS6	NM_173551.5(ANKS6):c.862+20G>A	noncoding	Benign
9	98790239	G	A	G98790239A	ANKS6	NM_173551.5(ANKS6):c.727C>T:p.Gln243Ter	coding	Pathogenic
9	98790302	G	A	G98790302A	ANKS6	NM_173551.5(ANKS6):c.664C>T:p.Arg222Trp	coding	Benign
9	98790308	C	T	C98790308T	ANKS6	NM_173551.5(ANKS6):c.658G>A:p.Ala220Thr	coding	Benign
9	98790351	G	A	G98790351A	ANKS6	NM_173551.5(ANKS6):c.615C>T:p.Ala205=	coding	Benign
9	98790363	G	A	G98790363A	ANKS6	NM_173551.5(ANKS6):c.603C>T:p.His201=	coding	Benign
9	98790381	C	T	C98790381T	ANKS6	NM_173551.5(ANKS6):c.585G>A:p.Leu195=	coding	Benign
9	98790429	T	C	T98790429C	ANKS6	NM_173551.5(ANKS6):c.537A>G:p.Gln179=	coding	Benign/Likely_benign
9	98796162	G	A	G98796162A	ANKS6	NM_173551.5(ANKS6):c.330C>T:p.Tyr110=	coding	Benign
9	98796327	G	A	G98796327A	ANKS6	NM_173551.5(ANKS6):c.165C>T:p.Ala55=	coding	Benign
9	98807834	G	A	G98807834A	GALNT12	NM_024642.5(GALNT12):c.136G>A:p.Gly46Arg	coding	Benign
9	98808054	A	T	A98808054T	GALNT12	NM_024642.5(GALNT12):c.356A>T:p.Glu119Val	coding	Benign
9	98808057	G	C	G98808057C	GALNT12	NM_024642.5(GALNT12):c.359G>C:p.Arg120Pro	coding	Benign
9	98823249	T	A	T98823249A	GALNT12	NM_024642.5(GALNT12):c.372-7T>A	noncoding	Benign
9	98823259	C	T	C98823259T	GALNT12	NM_024642.5(GALNT12):c.375C>T:p.Cys125=	coding	Benign/Likely_benign
9	98826777	T	C	T98826777C	GALNT12	NM_024642.5(GALNT12):c.567T>C:p.Asn189=	coding	Benign/Likely_benign
9	98826789	A	G	A98826789G	GALNT12	NM_024642.5(GALNT12):c.579A>G:p.Gly193=	coding	Benign/Likely_benign
9	98831790	G	A	G98831790A	GALNT12	NM_024642.5(GALNT12):c.750G>A:p.Ser250=	coding	Benign/Likely_benign
9	98831821	G	A	G98831821A	GALNT12	NM_024642.5(GALNT12):c.781G>A:p.Asp261Asn	coding	Benign
9	98831880	C	T	C98831880T	GALNT12	NM_024642.5(GALNT12):c.840C>T:p.Asp280=	coding	Benign/Likely_benign
9	98831937	A	G	A98831937G	GALNT12	NM_024642.5(GALNT12):c.897A>G:p.Gln299=	coding	Benign
9	98837067	G	A	G98837067A	GALNT12	NM_024642.5(GALNT12):c.1131G>A:p.Leu377=	coding	Benign/Likely_benign
9	98844143	C	G	C98844143G	GALNT12	NM_024642.5(GALNT12):c.1392C>G:p.Pro464=	coding	Benign/Likely_benign
9	98844143	C	T	C98844143T	GALNT12	NM_024642.5(GALNT12):c.1392C>T:p.Pro464=	coding	Benign/Likely_benign
9	98846015	C	T	C98846015T	GALNT12	NM_024642.5(GALNT12):c.1497C>T:p.Asn499=	coding	Benign/Likely_benign
9	98846127	G	A	G98846127A	GALNT12	NM_024642.5(GALNT12):c.1605+4G>A	noncoding	Benign
9	98849023	C	T	C98849023T	GALNT12	NM_024642.5(GALNT12):c.1677C>T:p.Phe559=	coding	Benign/Likely_benign
9	98849053	G	C	G98849053C	GALNT12	NM_024642.5(GALNT12):c.1707G>C:p.Ser569=	coding	Benign
9	98987299	C	T	C98987299T	COL15A1	NM_001855.5(COL15A1):c.654C>T:p.Ser218=	coding	Benign
9	99003559	C	T	C99003559T	COL15A1	NM_001855.5(COL15A1):c.1172C>T:p.Thr391Met	coding	Benign
9	99024998	C	T	C99024998T	COL15A1	NM_001855.5(COL15A1):c.1979C>T:p.Pro660Leu	coding	Benign
9	99035397	C	G	C99035397G	COL15A1	NM_001855.5(COL15A1):c.2268C>G:p.Leu756=	coding	Benign
9	99055368	C	T	C99055368T	COL15A1	NM_001855.5(COL15A1):c.3188C>T:p.Pro1063Leu	coding	Benign
9	99105204	C	T	C99105204T	TGFBR1	NM_004612.4(TGFBR1):c.-2C>T	noncoding	Benign/Likely_benign
9	99128949	A	G	A99128949G	TGFBR1	NM_004612.4(TGFBR1):c.192A>G:p.Lys64=	coding	Benign/Likely_benign
9	99132622	G	A	G99132622A	TGFBR1	NM_004612.4(TGFBR1):c.457G>A:p.Val153Ile	coding	Benign/Likely_benign
9	99132634	C	T	C99132634T	TGFBR1	NM_004612.4(TGFBR1):c.469C>T:p.Arg157Ter	coding	Pathogenic
9	99132686	G	T	G99132686T	TGFBR1	NM_004612.4(TGFBR1):c.521G>T:p.Gly174Val	coding	Pathogenic
9	99132757	C	T	C99132757T	TGFBR1	NM_004612.4(TGFBR1):c.574+18C>T	noncoding	Benign
9	99137883	C	T	C99137883T	TGFBR1	NM_004612.4(TGFBR1):c.599C>T:p.Thr200Ile	coding	Pathogenic
9	99137962	A	G	A99137962G	TGFBR1	NM_004612.4(TGFBR1):c.678A>G:p.Gly226=	coding	Benign
9	99138006	C	T	C99138006T	TGFBR1	NM_004612.4(TGFBR1):c.722C>T:p.Ser241Leu	coding	Pathogenic/Likely_pathogenic
9	99138017	G	T	G99138017T	TGFBR1	NM_004612.4(TGFBR1):c.733G>T:p.Glu245Ter	coding	Pathogenic
9	99138065	G	T	G99138065T	TGFBR1	NM_004612.4(TGFBR1):c.781G>T:p.Gly261Ter	coding	Pathogenic
9	99138081	A	G	A99138081G	TGFBR1	NM_004612.4(TGFBR1):c.797A>G:p.Asp266Gly	coding	Pathogenic
9	99138128	A	G	A99138128G	TGFBR1	NM_004612.4(TGFBR1):c.805+39A>G	noncoding	Benign
9	99142657	G	A	G99142657A	TGFBR1	NM_004612.4(TGFBR1):c.927G>A:p.Thr309=	coding	Benign/Likely_benign
9	99142664	G	A	G99142664A	TGFBR1	NM_004612.4(TGFBR1):c.934G>A:p.Gly312Ser	coding	Pathogenic/Likely_pathogenic
9	99142683	T	G	T99142683G	TGFBR1	NM_004612.4(TGFBR1):c.953T>G:p.Met318Arg	coding	Pathogenic
9	99144790	T	C	T99144790C	TGFBR1	NM_004612.4(TGFBR1):c.1032T>C:p.Asn344=	coding	Benign/Likely_benign
9	99144816	G	T	G99144816T	TGFBR1	NM_004612.4(TGFBR1):c.1058G>T:p.Gly353Val	coding	Pathogenic
9	99144883	A	C	A99144883C	TGFBR1	NM_004612.4(TGFBR1):c.1125A>C:p.Thr375=	coding	Benign/Likely_benign
9	99145142	G	A	G99145142A	TGFBR1	NM_004612.4(TGFBR1):c.1130+254G>A	noncoding	Benign
9	99146506	C	T	C99146506T	TGFBR1	NM_004612.4(TGFBR1):c.1152C>T:p.Leu384=	coding	Benign
9	99146553	A	G	A99146553G	TGFBR1	NM_004612.4(TGFBR1):c.1199A>G:p.Asp400Gly	coding	Pathogenic
9	99146570	T	C	T99146570C	TGFBR1	NM_004612.4(TGFBR1):c.1216T>C:p.Leu406=	coding	Benign/Likely_benign
9	99146594	C	T	C99146594T	TGFBR1	NM_004612.4(TGFBR1):c.1240C>T:p.Arg414Ter	coding	Pathogenic
9	99146610	G	A	G99146610A	TGFBR1	NM_004612.4(TGFBR1):c.1255+1G>A	coding	Pathogenic
9	99146633	G	A	G99146633A	TGFBR1	NM_004612.4(TGFBR1):c.1255+24G>A	noncoding	Benign
9	99147375	A	G	A99147375G	TGFBR1	NM_004612.4(TGFBR1):c.1256-279A>G	noncoding	Benign
9	99149250	T	C	T99149250C	TGFBR1	NM_004612.4(TGFBR1):c.1457T>C:p.Leu486Ser	coding	Pathogenic/Likely_pathogenic
9	99149252	C	T	C99149252T	TGFBR1	NM_004612.4(TGFBR1):c.1459C>T:p.Arg487Trp	coding	Pathogenic
9	99149253	G	A	G99149253A	TGFBR1	NM_004612.4(TGFBR1):c.1460G>A:p.Arg487Gln	coding	Pathogenic
9	99149253	G	C	G99149253C	TGFBR1	NM_004612.4(TGFBR1):c.1460G>C:p.Arg487Pro	coding	Pathogenic
9	99149374	A	G	A99149374G	TGFBR1	NM_004612.4(TGFBR1):c.*69A>G	noncoding	Benign
9	99150189	A	G	A99150189G	TGFBR1	NM_004612.4(TGFBR1):c.*884A>G	noncoding	Benign
9	99152105	G	A	G99152105A	TGFBR1	NM_004612.4(TGFBR1):c.*2800G>A	noncoding	Benign
9	99152530	G	A	G99152530A	TGFBR1	NM_004612.4(TGFBR1):c.*3225G>A	noncoding	Benign
9	99152591	G	C	G99152591C	TGFBR1	NM_004612.4(TGFBR1):c.*3286G>C	noncoding	Benign
9	99218085	A	G	A99218085G	ALG2	NM_033087.4(ALG2):c.1100T>C:p.Val367Ala	coding	Benign
9	99218425	A	G	A99218425G	ALG2	NM_033087.4(ALG2):c.760T>C:p.Leu254=	coding	Benign/Likely_benign
9	99218701	T	C	T99218701C	ALG2	NM_033087.4(ALG2):c.484A>G:p.Ile162Val	coding	Benign
9	99218792	C	A	C99218792A	ALG2	NM_033087.4(ALG2):c.393G>T:p.Lys131Asn	coding	Pathogenic
9	99218947	T	C	T99218947C	ALG2	NM_033087.4(ALG2):c.349-111A>G	noncoding	Benign
9	99221607	G	A	G99221607A	ALG2	NM_033087.4(ALG2):c.288C>T:p.Phe96=	coding	Benign/Likely_benign
9	99221692	A	C	A99221692C	ALG2	NM_033087.4(ALG2):c.203T>G:p.Val68Gly	coding	Pathogenic
9	99221728	G	A	G99221728A	ALG2	NM_033087.4(ALG2):c.167C>T:p.Pro56Leu	coding	Benign
9	99221766	G	C	G99221766C	ALG2	NM_033087.4(ALG2):c.129C>G:p.Arg43=	coding	Benign
9	99221811	G	C	G99221811C	ALG2	NM_033087.4(ALG2):c.84C>G:p.Gly28=	coding	Benign
9	99221864	A	G	A99221864G	ALG2	NM_033087.4(ALG2):c.31T>C:p.Ser11Pro	coding	Benign
9	99221865	G	C	G99221865C	ALG2	NM_033087.4(ALG2):c.30C>G:p.Asp10Glu	coding	Benign/Likely_benign
9	99221878	C	G	C99221878G	ALG2	NM_033087.4(ALG2):c.17G>C:p.Gly6Ala	coding	Benign/Likely_benign
9	99222096	G	C	G99222096C	ALG2	NC_000009.12:g.99222096G>C	noncoding	Benign
9	100099331	T	G	T100099331G	INVS	NM_014425.5(INVS):c.-110T>G	noncoding	Benign
9	100104623	C	T	C100104623T	INVS	NM_014425.5(INVS):c.102C>T:p.Ile34=	coding	Benign
9	100229676	G	A	G100229676A	INVS	NM_014425.5(INVS):c.464G>A:p.Trp155Ter	coding	Pathogenic
9	100240041	T	C	T100240041C	INVS	NM_014425.5(INVS):c.616-19T>C	noncoding	Benign
9	100240169	C	T	C100240169T	INVS	NM_014425.5(INVS):c.725C>T:p.Ser242Leu	coding	Benign/Likely_benign
9	100240184	A	G	A100240184G	INVS	NM_014425.5(INVS):c.740A>G:p.Asn247Ser	coding	Benign/Likely_benign
9	100246622	G	A	G100246622A	INVS	NM_014425.5(INVS):c.913G>A:p.Val305Ile	coding	Benign/Likely_benign
9	100252902	T	C	T100252902C	INVS	NM_014425.5(INVS):c.1235-5T>C	noncoding	Benign
9	100252956	T	C	T100252956C	INVS	NM_014425.5(INVS):c.1284T>C:p.His428=	coding	Benign
9	100253137	G	T	G100253137T	INVS	NM_014425.5(INVS):c.1464+1G>T	coding	Pathogenic
9	100264835	T	C	T100264835C	INVS	NM_014425.5(INVS):c.1478T>C:p.Leu493Ser	coding	Pathogenic
9	100272996	G	A	G100272996A	INVS	NM_014425.5(INVS):c.1704G>A:p.Gly568=	coding	Benign/Likely_benign
9	100284342	C	T	C100284342T	INVS	NM_014425.5(INVS):c.1807C>T:p.Arg603Ter	coding	Pathogenic/Likely_pathogenic
9	100284483	G	C	G100284483C	INVS	NM_014425.5(INVS):c.1948G>C:p.Ala650Pro	coding	Benign/Likely_benign
9	100284515	A	G	A100284515G	INVS	NM_014425.5(INVS):c.1980A>G:p.Gly660=	coding	Benign/Likely_benign
9	100284537	G	T	G100284537T	INVS	NM_014425.5(INVS):c.2002G>T:p.Gly668Ter	coding	Pathogenic
9	100284591	A	T	A100284591T	INVS	NM_014425.5(INVS):c.2056A>T:p.Arg686Ter	coding	Pathogenic
9	100284634	G	A	G100284634A	INVS	NM_014425.5(INVS):c.2068+31G>A	noncoding	Benign
9	100292373	A	G	A100292373G	INVS	NM_014425.5(INVS):c.2116A>G:p.Arg706Gly	coding	Benign/Likely_benign
9	100292450	C	T	C100292450T	INVS	NM_014425.5(INVS):c.2193C>T:p.Gly731=	coding	Benign/Likely_benign
9	100292659	G	A	G100292659A	INVS	NM_014425.5(INVS):c.2402G>A:p.Gly801Glu	coding	Benign
9	100292669	T	C	T100292669C	INVS	NM_014425.5(INVS):c.2412T>C:p.Ser804=	coding	Benign
9	100292766	C	T	C100292766T	INVS	NM_014425.5(INVS):c.2509C>T:p.Gln837Ter	coding	Pathogenic
9	100292952	C	T	C100292952T	INVS	NM_014425.5(INVS):c.2695C>T:p.Arg899Ter	coding	Pathogenic
9	100292976	C	A	C100292976A	INVS	NM_014425.5(INVS):c.2719C>A:p.Arg907=	coding	Benign
9	100292976	C	T	C100292976T	INVS	NM_014425.5(INVS):c.2719C>T:p.Arg907Ter	coding	Pathogenic
9	100296894	C	G	C100296894G	INVS	NM_014425.5(INVS):c.2787-23C>G	noncoding	Benign
9	100297017	C	T	C100297017T	INVS	NM_014425.5(INVS):c.2887C>T:p.Gln963Ter	coding	Pathogenic
9	100297102	C	G	C100297102G	INVS	NM_014425.5(INVS):c.2972C>G:p.Ser991Ter	coding	Pathogenic
9	100297194	A	G	A100297194G	INVS	NM_014425.5(INVS):c.3016+48A>G	noncoding	Benign
9	100297931	T	G	T100297931G	INVS	NM_014425.5(INVS):c.3017-5T>G	noncoding	Benign/Likely_benign
9	100297946	C	T	C100297946T	INVS	NM_014425.5(INVS):c.3027C>T:p.His1009=	coding	Benign/Likely_benign
9	100300971	A	G	A100300971G	INVS	NM_014425.5(INVS):c.*297A>G	noncoding	Benign
9	100578027	T	C	T100578027C	CAVIN4	NM_001018116.2(CAVIN4):c.-117T>C	noncoding	Benign
9	100578087	G	A	G100578087A	CAVIN4	NM_001018116.2(CAVIN4):c.-57G>A	noncoding	Benign
9	100578200	G	A	G100578200A	CAVIN4	NM_001018116.2(CAVIN4):c.57G>A:p.Ser19=	coding	Benign/Likely_benign
9	100578376	C	T	C100578376T	CAVIN4	NM_001018116.2(CAVIN4):c.233C>T:p.Ser78Leu	coding	Benign
9	100578535	G	A	G100578535A	CAVIN4	NM_001018116.2(CAVIN4):c.392G>A:p.Arg131His	coding	Benign
9	100578557	C	A	C100578557A	CAVIN4	NM_001018116.2(CAVIN4):c.408+6C>A	noncoding	Benign
9	100578593	T	C	T100578593C	CAVIN4	NM_001018116.2(CAVIN4):c.408+42T>C	noncoding	Benign
9	100578732	G	A	G100578732A	CAVIN4	NM_001018116.2(CAVIN4):c.408+181G>A	noncoding	Benign
9	100578799	A	G	A100578799G	CAVIN4	NM_001018116.2(CAVIN4):c.408+248A>G	noncoding	Benign
9	100585844	A	G	A100585844G	CAVIN4	NM_001018116.2(CAVIN4):c.488A>G:p.Asp163Gly	coding	Benign
9	100585926	A	T	A100585926T	CAVIN4	NM_001018116.2(CAVIN4):c.570A>T:p.Ser190=	coding	Benign
9	100586352	G	A	G100586352A	CAVIN4	NM_001018116.2(CAVIN4):c.996G>A:p.Arg332=	coding	Benign
9	101362382	C	T	C101362382T	BAAT	NM_001701.4(BAAT):c.*46G>A	noncoding	Benign
9	101362551	G	A	G101362551A	BAAT	NM_001701.4(BAAT):c.1134C>T:p.His378=	coding	Benign
9	101362718	T	C	T101362718C	BAAT	NM_001701.4(BAAT):c.967A>G:p.Ile323Val	coding	Pathogenic
9	101362734	C	T	C101362734T	BAAT	NM_001701.4(BAAT):c.951G>A:p.Gln317=	coding	Benign/Likely_benign
9	101362774	A	G	A101362774G	BAAT	NM_001701.4(BAAT):c.911T>C:p.Val304Ala	coding	Benign
9	101362827	G	C	G101362827C	BAAT	NM_001701.4(BAAT):c.858C>G:p.Ser286=	coding	Pathogenic
9	101362842	A	C	A101362842C	BAAT	NM_001701.4(BAAT):c.843T>G:p.Ser281=	coding	Benign/Likely_benign
9	101368187	C	G	C101368187G	BAAT	NM_001701.4(BAAT):c.602G>C:p.Arg201Pro	coding	Benign
9	101368187	C	T	C101368187T	BAAT	NM_001701.4(BAAT):c.602G>A:p.Arg201His	coding	Benign
9	101370996	C	T	C101370996T	BAAT	NM_001701.4(BAAT):c.409G>A:p.Val137Ile	coding	Benign/Likely_benign
9	101371055	T	C	T101371055C	BAAT	NM_001701.4(BAAT):c.350A>G:p.Lys117Arg	coding	Benign
9	101371179	T	C	T101371179C	BAAT	NM_001701.4(BAAT):c.226A>G:p.Met76Val	coding	Pathogenic
9	101371346	C	T	C101371346T	BAAT	NM_001701.4(BAAT):c.59G>A:p.Arg20Gln	coding	Benign
9	101420658	T	C	T101420658C	ALDOB	NM_000035.4(ALDOB):c.*1151A>G	noncoding	Benign
9	101420806	T	C	T101420806C	ALDOB	NM_000035.4(ALDOB):c.*1003A>G	noncoding	Benign
9	101420912	C	T	C101420912T	ALDOB	NM_000035.4(ALDOB):c.*897G>A	noncoding	Benign
9	101421197	T	C	T101421197C	ALDOB	NM_000035.4(ALDOB):c.*612A>G	noncoding	Benign
9	101421257	A	T	A101421257T	ALDOB	NM_000035.4(ALDOB):c.*552T>A	noncoding	Benign
9	101421304	G	T	G101421304T	ALDOB	NM_000035.4(ALDOB):c.*505C>A	noncoding	Benign
9	101421603	G	T	G101421603T	ALDOB	NM_000035.4(ALDOB):c.*206C>A	noncoding	Benign
9	101421620	G	A	G101421620A	ALDOB	NM_000035.4(ALDOB):c.*189C>T	noncoding	Benign
9	101421687	C	T	C101421687T	ALDOB	NM_000035.4(ALDOB):c.*122G>A	noncoding	Benign
9	101421740	G	A	G101421740A	ALDOB	NM_000035.4(ALDOB):c.*69C>T	noncoding	Benign
9	101421891	G	A	G101421891A	ALDOB	NM_000035.4(ALDOB):c.1013C>T:p.Ala338Val	coding	Pathogenic/Likely_pathogenic
9	101421899	G	C	G101421899C	ALDOB	NM_000035.4(ALDOB):c.1005C>G:p.Asn335Lys	coding	Pathogenic/Likely_pathogenic
9	101425447	C	T	C101425447T	ALDOB	NM_000035.4(ALDOB):c.799+6G>A	noncoding	Benign/Likely_benign
9	101425532	G	T	G101425532T	ALDOB	NM_000035.4(ALDOB):c.720C>A:p.Cys240Ter	coding	Pathogenic
9	101425628	C	T	C101425628T	ALDOB	NM_000035.4(ALDOB):c.625-1G>A	coding	Pathogenic
9	101426560	C	G	C101426560G	ALDOB	NM_000035.4(ALDOB):c.619G>C:p.Glu207Gln	coding	Benign
9	101426567	A	C	A101426567C	ALDOB	NM_000035.4(ALDOB):c.612T>G:p.Tyr204Ter	coding	Pathogenic
9	101426567	A	T	A101426567T	ALDOB	NM_000035.4(ALDOB):c.612T>A:p.Tyr204Ter	coding	Pathogenic/Likely_pathogenic
9	101427498	G	T	G101427498T	ALDOB	NM_000035.4(ALDOB):c.524C>A:p.Ala175Asp	coding	Pathogenic
9	101427500	G	C	G101427500C	ALDOB	NM_000035.4(ALDOB):c.522C>G:p.Tyr174Ter	coding	Pathogenic
9	101427574	C	G	C101427574G	ALDOB	NM_000035.4(ALDOB):c.448G>C:p.Ala150Pro	coding	Pathogenic
9	101427580	A	G	A101427580G	ALDOB	NM_000035.4(ALDOB):c.442T>C:p.Trp148Arg	coding	Pathogenic
9	101427622	G	T	G101427622T	ALDOB	NM_000035.4(ALDOB):c.400C>A:p.Arg134Ser	coding	Benign
9	101429747	G	C	G101429747C	ALDOB	NM_000035.4(ALDOB):c.324+8C>G	noncoding	Benign
9	101429753	A	T	A101429753T	ALDOB	NM_000035.4(ALDOB):c.324+2T>A	noncoding	Pathogenic/Likely_pathogenic
9	101429754	C	T	C101429754T	ALDOB	NM_000035.4(ALDOB):c.324+1G>A	noncoding	Pathogenic
9	101429755	C	T	C101429755T	ALDOB	NM_000035.4(ALDOB):c.324G>A:p.Lys108=	coding	Pathogenic/Likely_pathogenic
9	101429901	G	A	G101429901A	ALDOB	NM_000035.4(ALDOB):c.178C>T:p.Arg60Ter	coding	Pathogenic/Likely_pathogenic
9	101429923	A	C	A101429923C	ALDOB	NM_000035.4(ALDOB):c.156T>G:p.Thr52=	coding	Benign/Likely_benign
9	101430878	G	A	G101430878A	ALDOB	NM_000035.4(ALDOB):c.10C>T:p.Arg4Ter	coding	Pathogenic/Likely_pathogenic
9	101430888	G	A	G101430888A	ALDOB	NM_000035.4(ALDOB):c.-1C>T	coding	Benign
9	101435708	C	G	C101435708G	ALDOB	NM_000035.4(ALDOB):c.-11+1G>C	noncoding	Pathogenic
9	101435909	A	T	A101435909T	ALDOB	NM_000035.4(ALDOB):c.-211T>A	noncoding	Benign
9	101552733	A	G	A101552733G	RNF20	NM_019592.7(RNF20):c.1881A>G:p.Lys627=	coding	Benign
9	101573337	T	C	T101573337C	GRIN3A	NM_133445.3(GRIN3A):c.3185A>G:p.Asn1062Ser	coding	Benign
9	104102152	C	T	C104102152T	SMC2	NM_006444.3(SMC2):c.829C>T:p.Leu277Phe	coding	Benign
9	104102526	G	A	G104102526A	SMC2	NM_006444.3(SMC2):c.973G>A:p.Ala325Thr	coding	Benign
9	104111667	T	C	T104111667C	SMC2	NM_006444.3(SMC2):c.1107T>C:p.Asp369=	coding	Benign
9	104118234	G	T	G104118234T	SMC2	NM_006444.3(SMC2):c.1855G>T:p.Ala619Ser	coding	Benign
9	104134518	A	G	A104134518G	SMC2	NM_006444.3(SMC2):c.3212A>G:p.Lys1071Arg	coding	Benign
9	104598728	C	G	C104598728G	OR13C5	NM_001004482.1(OR13C5):c.686G>C:p.Ser229Thr	coding	Benign
9	104599158	G	C	G104599158C	OR13C5	NM_001004482.1(OR13C5):c.256C>G:p.Leu86Val	coding	Benign
9	104599170	G	A	G104599170A	OR13C5	NM_001004482.1(OR13C5):c.244C>T:p.Leu82=	coding	Benign/Likely_benign
9	104599171	C	G	C104599171G	OR13C5	NM_001004482.1(OR13C5):c.243G>C:p.Thr81=	coding	Benign/Likely_benign
9	104599179	G	A	G104599179A	OR13C5	NM_001004482.1(OR13C5):c.235C>T:p.Pro79Ser	coding	Benign
9	104773004	A	G	A104773004G	NIPSNAP3B	NM_018376.4(NIPSNAP3B):c.675A>G:p.Glu225=	coding	Benign
9	104781061	A	G	A104781061G	ABCA1	NM_005502.4(ABCA1):c.*3254T>C	noncoding	Benign/Likely_benign
9	104781064	A	G	A104781064G	ABCA1	NM_005502.4(ABCA1):c.*3251T>C	noncoding	Benign/Likely_benign
9	104781095	T	C	T104781095C	ABCA1	NM_005502.4(ABCA1):c.*3220A>G	noncoding	Benign
9	104781232	A	G	A104781232G	ABCA1	NM_005502.4(ABCA1):c.*3083T>C	noncoding	Benign
9	104781610	C	T	C104781610T	ABCA1	NM_005502.4(ABCA1):c.*2705G>A	noncoding	Benign
9	104782186	T	A	T104782186A	ABCA1	NM_005502.4(ABCA1):c.*2129A>T	noncoding	Benign/Likely_benign
9	104782392	T	G	T104782392G	ABCA1	NM_005502.4(ABCA1):c.*1923A>C	noncoding	Benign/Likely_benign
9	104782404	G	A	G104782404A	ABCA1	NM_005502.4(ABCA1):c.*1911C>T	noncoding	Benign
9	104782419	C	T	C104782419T	ABCA1	NM_005502.4(ABCA1):c.*1896G>A	noncoding	Benign
9	104782512	C	G	C104782512G	ABCA1	NM_005502.4(ABCA1):c.*1803G>C	noncoding	Benign/Likely_benign
9	104782662	A	T	A104782662T	ABCA1	NM_005502.4(ABCA1):c.*1653T>A	noncoding	Benign
9	104782729	T	C	T104782729C	ABCA1	NM_005502.4(ABCA1):c.*1586A>G	noncoding	Benign/Likely_benign
9	104782875	G	A	G104782875A	ABCA1	NM_005502.4(ABCA1):c.*1440C>T	noncoding	Benign
9	104782993	G	A	G104782993A	ABCA1	NM_005502.4(ABCA1):c.*1322C>T	noncoding	Benign/Likely_benign
9	104783622	G	A	G104783622A	ABCA1	NM_005502.4(ABCA1):c.*693C>T	noncoding	Benign
9	104783920	A	T	A104783920T	ABCA1	NM_005502.4(ABCA1):c.*395T>A	noncoding	Benign
9	104783973	C	A	C104783973A	ABCA1	NM_005502.4(ABCA1):c.*342G>T	noncoding	Benign
9	104784219	A	G	A104784219G	ABCA1	NM_005502.4(ABCA1):c.*96T>C	noncoding	Benign
9	104784372	G	T	G104784372T	ABCA1	NM_005502.4(ABCA1):c.6729C>A:p.Asp2243Glu	coding	Benign/Likely_benign
9	104785591	C	T	C104785591T	ABCA1	NM_005502.4(ABCA1):c.6450G>A:p.Pro2150=	coding	Benign
9	104785640	C	A	C104785640A	ABCA1	NM_005502.4(ABCA1):c.6402-1G>T	coding	Pathogenic
9	104786285	T	C	T104786285C	ABCA1	NM_005502.4(ABCA1):c.6401+13A>G	noncoding	Benign
9	104786940	G	A	G104786940A	ABCA1	NM_005502.4(ABCA1):c.6241C>T:p.Arg2081Trp	coding	Pathogenic
9	104787941	G	A	G104787941A	ABCA1	NM_005502.4(ABCA1):c.6183C>T:p.Gly2061=	coding	Benign
9	104788469	A	G	A104788469G	ABCA1	NM_005502.4(ABCA1):c.6026T>C:p.Phe2009Ser	coding	Pathogenic
9	104790904	A	G	A104790904G	ABCA1	NM_005502.4(ABCA1):c.5927+18T>C	noncoding	Benign
9	104791982	C	T	C104791982T	ABCA1	NM_005502.4(ABCA1):c.5774G>A:p.Arg1925Gln	coding	Benign/Likely_benign
9	104791993	A	G	A104791993G	ABCA1	NM_005502.4(ABCA1):c.5763T>C:p.Tyr1921=	coding	Benign
9	104794495	T	G	T104794495G	ABCA1	NM_005502.4(ABCA1):c.5398A>C:p.Asn1800His	coding	Pathogenic
9	104796134	A	G	A104796134G	ABCA1	NM_005502.4(ABCA1):c.5301T>C:p.Tyr1767=	coding	Benign/Likely_benign
9	104798504	G	A	G104798504A	ABCA1	NM_005502.4(ABCA1):c.5038C>T:p.Arg1680Trp	coding	Pathogenic
9	104798508	C	T	C104798508T	ABCA1	NM_005502.4(ABCA1):c.5034G>A:p.Gln1678=	coding	Benign/Likely_benign
9	104800523	T	C	T104800523C	ABCA1	NM_005502.4(ABCA1):c.4760A>G:p.Lys1587Arg	coding	Benign
9	104802047	A	G	A104802047G	ABCA1	NM_005502.4(ABCA1):c.4698+7T>C	noncoding	Benign
9	104804649	C	A	C104804649A	ABCA1	NM_005502.4(ABCA1):c.4536G>T:p.Thr1512=	coding	Benign
9	104804668	G	A	G104804668A	ABCA1	NM_005502.4(ABCA1):c.4517C>T:p.Ser1506Leu	coding	Pathogenic
9	104806265	C	A	C104806265A	ABCA1	NM_005502.4(ABCA1):c.4440G>T:p.Gly1480=	coding	Benign
9	104806276	A	G	A104806276G	ABCA1	NM_005502.4(ABCA1):c.4429T>C:p.Cys1477Arg	coding	Pathogenic
9	104806424	C	T	C104806424T	ABCA1	NM_005502.4(ABCA1):c.4281G>A:p.Thr1427=	coding	Benign
9	104809518	G	A	G104809518A	ABCA1	NM_005502.4(ABCA1):c.4222C>T:p.Leu1408Phe	coding	Benign/Likely_benign
9	104812679	C	T	C104812679T	ABCA1	NM_005502.4(ABCA1):c.3945G>A:p.Gly1315=	coding	Benign
9	104814154	C	T	C104814154T	ABCA1	NM_005502.4(ABCA1):c.3865G>A:p.Asp1289Asn	coding	Benign
9	104814446	C	T	C104814446T	ABCA1	NM_005502.4(ABCA1):c.3768G>A:p.Gly1256=	coding	Benign
9	104816142	C	G	C104816142G	ABCA1	NM_005502.4(ABCA1):c.3738+1G>C	noncoding	Pathogenic
9	104816197	C	T	C104816197T	ABCA1	NM_005502.4(ABCA1):c.3684G>A:p.Arg1228=	coding	Benign
9	104816248	T	C	T104816248C	ABCA1	NM_005502.4(ABCA1):c.3633A>G:p.Glu1211=	coding	Benign
9	104817351	C	G	C104817351G	ABCA1	NM_005502.4(ABCA1):c.3516G>C:p.Glu1172Asp	coding	Benign
9	104818761	G	A	G104818761A	ABCA1	NM_005502.4(ABCA1):c.3364C>T:p.Leu1122=	coding	Benign
9	104818830	C	A	C104818830A	ABCA1	NM_005502.4(ABCA1):c.3295G>T:p.Asp1099Tyr	coding	Pathogenic
9	104819623	G	A	G104819623A	ABCA1	NM_005502.4(ABCA1):c.3204C>T:p.Arg1068=	coding	Benign/Likely_benign
9	104819668	A	C	A104819668C	ABCA1	NM_005502.4(ABCA1):c.3159T>G:p.Val1053=	coding	Benign
9	104819706	G	C	G104819706C	ABCA1	NM_005502.4(ABCA1):c.3121C>G:p.Leu1041Val	coding	Benign
9	104820079	G	A	G104820079A	ABCA1	NM_005502.4(ABCA1):c.2961-10C>T	noncoding	Benign
9	104821357	C	T	C104821357T	ABCA1	NM_005502.4(ABCA1):c.2960+18G>A	noncoding	Benign
9	104821467	G	A	G104821467A	ABCA1	NM_005502.4(ABCA1):c.2868C>T:p.Thr956=	coding	Benign
9	104822510	C	T	C104822510T	ABCA1	NM_005502.4(ABCA1):c.2814G>A:p.Gly938=	coding	Benign
9	104822514	G	A	G104822514A	ABCA1	NM_005502.4(ABCA1):c.2810C>T:p.Ala937Val	coding	Pathogenic
9	104822520	T	C	T104822520C	ABCA1	NM_005502.4(ABCA1):c.2804A>G:p.Asn935Ser	coding	Pathogenic
9	104822521	T	G	T104822521G	ABCA1	NM_005502.4(ABCA1):c.2803A>C:p.Asn935His	coding	Pathogenic
9	104822594	A	G	A104822594G	ABCA1	NM_005502.4(ABCA1):c.2730T>C:p.Asp910=	coding	Benign
9	104824472	T	C	T104824472C	ABCA1	NM_005502.4(ABCA1):c.2649A>G:p.Ile883Met	coding	Benign
9	104825752	C	T	C104825752T	ABCA1	NM_005502.4(ABCA1):c.2473G>A:p.Val825Ile	coding	Benign
9	104825904	A	G	A104825904G	ABCA1	NM_005502.4(ABCA1):c.2338-17T>C	noncoding	Benign
9	104826957	C	G	C104826957G	ABCA1	NM_005502.4(ABCA1):c.2328G>C:p.Lys776Asn	coding	Benign
9	104826974	C	T	C104826974T	ABCA1	NM_005502.4(ABCA1):c.2311G>A:p.Val771Met	coding	Benign
9	104828942	C	T	C104828942T	ABCA1	NM_005502.4(ABCA1):c.2089G>A:p.Ala697Thr	coding	Benign/Likely_benign
9	104828991	G	T	G104828991T	ABCA1	NM_005502.4(ABCA1):c.2040C>A:p.Ile680=	coding	Benign
9	104829054	G	A	G104829054A	ABCA1	NM_005502.4(ABCA1):c.1977C>T:p.Ile659=	coding	Benign
9	104830936	G	C	G104830936C	ABCA1	NM_005502.4(ABCA1):c.1881C>G:p.Tyr627Ter	coding	Pathogenic
9	104831027	T	C	T104831027C	ABCA1	NM_005502.4(ABCA1):c.1790A>G:p.Gln597Arg	coding	Pathogenic
9	104831058	G	A	G104831058A	ABCA1	NM_005502.4(ABCA1):c.1759C>T:p.Arg587Trp	coding	Pathogenic
9	104831098	G	T	G104831098T	ABCA1	NM_005502.4(ABCA1):c.1719C>A:p.Tyr573Ter	coding	Pathogenic
9	104831702	G	A	G104831702A	ABCA1	NM_005502.4(ABCA1):c.1635C>T:p.Ser545=	coding	Benign
9	104831807	T	C	T104831807C	ABCA1	NM_005502.4(ABCA1):c.1530A>G:p.Leu510=	coding	Benign
9	104831813	G	A	G104831813A	ABCA1	NM_005502.4(ABCA1):c.1524C>T:p.Asn508=	coding	Benign
9	104837109	G	A	G104837109A	ABCA1	NM_005502.4(ABCA1):c.1195-13C>T	noncoding	Benign
9	104837574	A	G	A104837574G	ABCA1	NM_005502.4(ABCA1):c.1055-7T>C	noncoding	Benign/Likely_benign
9	104840305	G	A	G104840305A	ABCA1	NM_005502.4(ABCA1):c.1028C>T:p.Ala343Val	coding	Benign/Likely_benign
9	104840385	C	T	C104840385T	ABCA1	NM_005502.4(ABCA1):c.948G>A:p.Gly316=	coding	Benign
9	104840397	G	A	G104840397A	ABCA1	NM_005502.4(ABCA1):c.936C>T:p.Pro312=	coding	Benign
9	104845460	G	A	G104845460A	ABCA1	NM_005502.4(ABCA1):c.813+17C>T	noncoding	Benign
9	104858516	A	G	A104858516G	ABCA1	NM_005502.4(ABCA1):c.720+6T>C	noncoding	Benign/Likely_benign
9	104858586	C	T	C104858586T	ABCA1	NM_005502.4(ABCA1):c.656G>A:p.Arg219Lys	coding	Benign
9	104858591	T	C	T104858591C	ABCA1	NM_005502.4(ABCA1):c.651A>G:p.Leu217=	coding	Benign
9	104858608	A	T	A104858608T	ABCA1	NM_005502.4(ABCA1):c.634T>A:p.Ser212Thr	coding	Benign
9	104861748	C	T	C104861748T	ABCA1	NM_005502.4(ABCA1):c.474G>A:p.Leu158=	coding	Benign
9	104885374	G	A	G104885374A	ABCA1	NM_005502.4(ABCA1):c.161-806C>T	noncoding	Benign
9	104903697	C	G	C104903697G	ABCA1	NM_005502.4(ABCA1):c.-18G>C	noncoding	Benign
9	104928059	T	C	T104928059C	ABCA1	NM_005502.4(ABCA1):c.-217A>G	noncoding	Benign
9	104928121	G	C	G104928121C	ABCA1	NM_005502.4(ABCA1):c.-279C>G	noncoding	Benign
9	104928169	G	A	G104928169A	ABCA1	NM_005502.3(ABCA1):c.-327C>T	noncoding	Benign
9	104928254	G	C	G104928254C	ABCA1	NM_005502.3(ABCA1):c.-412C>G	noncoding	Benign
9	105573727	A	T	A105573727T	FKTN	NM_001079802.2(FKTN):c.-108A>T	noncoding	Benign
9	105574988	G	T	G105574988T	FKTN	NM_001079802.2(FKTN):c.-45G>T	noncoding	Benign/Likely_benign
9	105575074	G	A	G105575074A	FKTN	NM_001079802.2(FKTN):c.42G>A:p.Thr14=	coding	Benign
9	105596558	A	G	A105596558G	FKTN	NM_006731.2(FKTN):c.106-40A>G	noncoding	Benign
9	105596588	G	A	G105596588A	FKTN	NM_006731.2(FKTN):c.106-10G>A	noncoding	Benign
9	105596631	C	T	C105596631T	FKTN	NM_001079802.2(FKTN):c.139C>T:p.Arg47Ter	coding	Pathogenic
9	105601325	C	T	C105601325T	FKTN	NM_001079802.2(FKTN):c.346C>T:p.Gln116Ter	coding	Pathogenic
9	105601346	G	T	G105601346T	FKTN	NM_001079802.2(FKTN):c.367G>T:p.Glu123Ter	coding	Pathogenic
9	105601349	G	C	G105601349C	FKTN	NM_006731.2(FKTN):c.369+1G>C	coding	Pathogenic
9	105601349	G	T	G105601349T	FKTN	NM_006731.2(FKTN):c.369+1G>T	coding	Pathogenic
9	105604218	G	A	G105604218A	FKTN	NM_001079802.2(FKTN):c.373G>A:p.Gly125Ser	coding	Benign/Likely_benign
9	105604256	C	A	C105604256A	FKTN	NM_001079802.2(FKTN):c.411C>A:p.Cys137Ter	coding	Pathogenic/Likely_pathogenic
9	105604354	C	A	C105604354A	FKTN	NM_001079802.2(FKTN):c.509C>A:p.Ala170Glu	coding	Pathogenic
9	105604372	T	C	T105604372C	FKTN	NM_001079802.2(FKTN):c.527T>C:p.Phe176Ser	coding	Pathogenic
9	105604452	C	T	C105604452T	FKTN	NM_001079802.2(FKTN):c.607C>T:p.Arg203Ter	coding	Pathogenic
9	105604453	G	A	G105604453A	FKTN	NM_001079802.2(FKTN):c.608G>A:p.Arg203Gln	coding	Benign/Likely_benign
9	105606576	G	T	G105606576T	FKTN	NM_006731.2(FKTN):c.648-1243G>T	noncoding	Pathogenic/Likely_pathogenic
9	105606779	G	A	G105606779A	FKTN	NM_006731.2(FKTN):c.648-1040G>A	noncoding	Benign
9	105606816	T	G	T105606816G	FKTN	NM_006731.2(FKTN):c.648-1003T>G	noncoding	Benign
9	105607829	C	T	C105607829T	FKTN	NM_001079802.2(FKTN):c.658C>T:p.Gln220Ter	coding	Pathogenic
9	105607839	C	T	C105607839T	FKTN	NM_001079802.2(FKTN):c.668C>T:p.Thr223Ile	coding	Benign/Likely_benign
9	105607937	C	T	C105607937T	FKTN	NM_001079802.2(FKTN):c.766C>T:p.Arg256Ter	coding	Pathogenic
9	105608080	T	C	T105608080C	FKTN	NM_006731.2(FKTN):c.780+129T>C	noncoding	Benign
9	105615365	A	T	A105615365T	FKTN	NM_001079802.2(FKTN):c.868A>T:p.Lys290Ter	coding	Pathogenic
9	105617723	G	A	G105617723A	FKTN	NM_006731.2(FKTN):c.911-236G>A	noncoding	Benign
9	105617958	G	A	G105617958A	FKTN	NM_006731.2(FKTN):c.911-1G>A	noncoding	Pathogenic
9	105617967	C	T	C105617967T	FKTN	NM_001079802.2(FKTN):c.919C>T:p.Arg307Ter	coding	Pathogenic
9	105617968	G	A	G105617968A	FKTN	NM_001079802.2(FKTN):c.920G>A:p.Arg307Gln	coding	Pathogenic
9	105618074	C	A	C105618074A	FKTN	NM_001079802.2(FKTN):c.1026C>A:p.Leu342=	coding	Benign/Likely_benign
9	105618136	A	G	A105618136G	FKTN	NM_006731.2(FKTN):c.1044+44A>G	noncoding	Benign
9	105618150	C	T	C105618150T	FKTN	NM_006731.2(FKTN):c.1044+58C>T	noncoding	Benign
9	105619894	C	A	C105619894A	FKTN	NM_006731.2(FKTN):c.1045-40C>A	noncoding	Benign/Likely_benign
9	105619962	A	C	A105619962C	FKTN	NM_001079802.2(FKTN):c.1073A>C:p.Gln358Pro	coding	Pathogenic
9	105620042	A	T	A105620042T	FKTN	NM_001079802.2(FKTN):c.1153A>T:p.Lys385Ter	coding	Pathogenic
9	105636050	T	G	T105636050G	FKTN	NM_001079802.2(FKTN):c.*786T>G	coding	Benign/Likely_benign
9	105636397	A	G	A105636397G	FKTN	NM_001079802.2(FKTN):c.*1133A>G	coding	Benign/Likely_benign
9	105637544	T	C	T105637544C	FKTN	NM_001079802.2(FKTN):c.*2280T>C	coding	Benign/Likely_benign
9	105640882	T	A	T105640882A	FKTN	NM_001079802.2(FKTN):c.*5618T>A	noncoding	Benign/Likely_benign
9	105705326	A	G	A105705326G	TMEM38B	NM_018112.3(TMEM38B):c.113-271A>G	noncoding	Benign
9	105705590	A	G	A105705590G	TMEM38B	NM_018112.3(TMEM38B):c.113-7A>G	noncoding	Benign/Likely_benign
9	105705679	C	T	C105705679T	TMEM38B	NM_018112.3(TMEM38B):c.195C>T:p.Ser65=	coding	Benign
9	105705848	C	T	C105705848T	TMEM38B	NM_018112.3(TMEM38B):c.269+95C>T	noncoding	Benign
9	105721308	G	A	G105721308A	TMEM38B	NM_018112.3(TMEM38B):c.270-229G>A	noncoding	Benign
9	105721684	T	C	T105721684C	TMEM38B	NM_018112.3(TMEM38B):c.417T>C:p.Asn139=	coding	Benign
9	105722524	A	G	A105722524G	TMEM38B	NM_018112.3(TMEM38B):c.455-10A>G	noncoding	Benign
9	105722574	A	G	A105722574G	TMEM38B	NM_018112.3(TMEM38B):c.495A>G:p.Val165=	coding	Benign
9	105773965	G	C	G105773965C	TMEM38B	NM_018112.3(TMEM38B):c.761G>C:p.Cys254Ser	coding	Benign
9	105774003	G	A	G105774003A	TMEM38B	NM_018112.3(TMEM38B):c.799G>A:p.Val267Ile	coding	Benign
9	106924150	T	C	T106924150C	ZNF462	NM_021224.6(ZNF462):c.238T>C:p.Leu80=	coding	Benign
9	106924353	C	A	C106924353A	ZNF462	NM_021224.6(ZNF462):c.441C>A:p.Ser147=	coding	Benign
9	106924489	A	G	A106924489G	ZNF462	NM_021224.6(ZNF462):c.577A>G:p.Thr193Ala	coding	Benign
9	106924675	C	T	C106924675T	ZNF462	NM_021224.6(ZNF462):c.763C>T:p.Arg255Ter	coding	Pathogenic
9	106925358	G	A	G106925358A	ZNF462	NM_021224.6(ZNF462):c.1446G>A:p.Ser482=	coding	Benign
9	106925553	A	G	A106925553G	ZNF462	NM_021224.6(ZNF462):c.1641A>G:p.Pro547=	coding	Benign
9	106926879	G	A	G106926879A	ZNF462	NM_021224.6(ZNF462):c.2967G>A:p.Ala989=	coding	Benign
9	106927114	C	T	C106927114T	ZNF462	NM_021224.6(ZNF462):c.3202C>T:p.Arg1068Ter	coding	Pathogenic
9	106927691	C	T	C106927691T	ZNF462	NM_021224.6(ZNF462):c.3779C>T:p.Thr1260Met	coding	Benign
9	106927699	C	T	C106927699T	ZNF462	NM_021224.6(ZNF462):c.3787C>T:p.Arg1263Ter	coding	Pathogenic
9	106927908	A	G	A106927908G	ZNF462	NM_021224.6(ZNF462):c.3996A>G:p.Gln1332=	coding	Benign
9	106927929	T	C	T106927929C	ZNF462	NM_021224.6(ZNF462):c.4017T>C:p.Tyr1339=	coding	Benign
9	106928077	C	T	C106928077T	ZNF462	NM_021224.6(ZNF462):c.4165C>T:p.Gln1389Ter	coding	Pathogenic
9	106929240	G	A	G106929240A	ZNF462	NM_021224.6(ZNF462):c.5328G>A:p.Ser1776=	coding	Benign
9	106930661	A	G	A106930661G	ZNF462	NM_021224.6(ZNF462):c.5984A>G:p.Asn1995Ser	coding	Benign
9	107485787	C	T	C107485787T	KLF4	NM_004235.6(KLF4):c.1404G>A:p.Ser468=	coding	Benign
9	107487134	T	C	T107487134C	KLF4	NM_004235.6(KLF4):c.1158A>G:p.Arg386=	coding	Benign
9	107487179	G	A	G107487179A	KLF4	NM_004235.6(KLF4):c.1113C>T:p.Pro371=	coding	Benign
9	107487421	G	A	G107487421A	KLF4	NM_004235.6(KLF4):c.973C>T:p.Leu325=	coding	Benign
9	108855142	G	T	G108855142T	ACTL7B	NM_006686.4(ACTL7B):c.789C>A:p.Ala263=	coding	Benign
9	108867764	G	T	G108867764T	ELP1	NM_003640.5(ELP1):c.*1351C>A	noncoding	Benign
9	108867855	G	A	G108867855A	ELP1	NM_003640.5(ELP1):c.*1260C>T	noncoding	Benign
9	108867856	G	C	G108867856C	ELP1	NM_003640.5(ELP1):c.*1259C>G	noncoding	Benign
9	108868254	A	C	A108868254C	ELP1	NM_003640.5(ELP1):c.*861T>G	noncoding	Benign
9	108868723	T	C	T108868723C	ELP1	NM_003640.5(ELP1):c.*392A>G	noncoding	Benign
9	108869367	C	T	C108869367T	ELP1	NM_003640.5(ELP1):c.3932-185G>A	noncoding	Benign
9	108874706	C	T	C108874706T	ELP1	NM_003640.5(ELP1):c.3931+189G>A	noncoding	Benign
9	108875024	G	T	G108875024T	ELP1	NM_003640.5(ELP1):c.3856-54C>A	noncoding	Benign
9	108875051	C	A	C108875051A	ELP1	NM_003640.5(ELP1):c.3856-81G>T	noncoding	Benign
9	108875052	C	G	C108875052G	ELP1	NM_003640.5(ELP1):c.3856-82G>C	noncoding	Benign
9	108875191	G	T	G108875191T	ELP1	NM_003640.5(ELP1):c.3856-221C>A	noncoding	Benign
9	108877986	A	C	A108877986C	ELP1	NM_003640.5(ELP1):c.3855+9T>G	noncoding	Benign
9	108878060	G	A	G108878060A	ELP1	NM_003640.5(ELP1):c.3790C>T:p.Gln1264Ter	coding	Pathogenic
9	108878244	G	C	G108878244C	ELP1	NM_003640.5(ELP1):c.3701-95C>G	noncoding	Benign
9	108878273	T	G	T108878273G	ELP1	NM_003640.5(ELP1):c.3701-124A>C	noncoding	Benign
9	108878315	A	G	A108878315G	ELP1	NM_003640.5(ELP1):c.3701-166T>C	noncoding	Benign
9	108878351	C	T	C108878351T	ELP1	NM_003640.5(ELP1):c.3701-202G>A	noncoding	Benign
9	108878387	C	T	C108878387T	ELP1	NM_003640.5(ELP1):c.3700+236G>A	noncoding	Benign
9	108878731	G	A	G108878731A	ELP1	NM_003640.5(ELP1):c.3592C>T:p.Arg1198Ter	coding	Pathogenic/Likely_pathogenic
9	108879247	G	A	G108879247A	ELP1	NM_003640.5(ELP1):c.3572+199C>T	noncoding	Benign
9	108879347	C	T	C108879347T	ELP1	NM_003640.5(ELP1):c.3572+99G>A	noncoding	Benign
9	108879526	G	A	G108879526A	ELP1	NM_003640.5(ELP1):c.3492C>T:p.Asp1164=	coding	Benign
9	108879545	G	A	G108879545A	ELP1	NM_003640.5(ELP1):c.3473C>T:p.Pro1158Leu	coding	Benign
9	108881595	G	A	G108881595A	ELP1	NM_003640.5(ELP1):c.3346+110C>T	noncoding	Benign
9	108882116	G	A	G108882116A	ELP1	NM_003640.5(ELP1):c.3285+9C>T	noncoding	Benign
9	108889127	A	C	A108889127C	ELP1	NM_003640.5(ELP1):c.3222+205T>G	noncoding	Benign
9	108889217	T	C	T108889217C	ELP1	NM_003640.5(ELP1):c.3222+115A>G	noncoding	Benign
9	108889219	T	C	T108889219C	ELP1	NM_003640.5(ELP1):c.3222+113A>G	noncoding	Benign
9	108889340	A	T	A108889340T	ELP1	NM_003640.5(ELP1):c.3214T>A:p.Cys1072Ser	coding	Benign
9	108889379	G	A	G108889379A	ELP1	NM_003640.5(ELP1):c.3175C>T:p.Gln1059Ter	coding	Pathogenic
9	108891180	A	G	A108891180G	ELP1	NM_003640.5(ELP1):c.3160+23T>C	noncoding	Benign
9	108891294	C	G	C108891294G	ELP1	NM_003640.5(ELP1):c.3069G>C:p.Leu1023=	coding	Benign
9	108891326	C	T	C108891326T	ELP1	NM_003640.5(ELP1):c.3037G>A:p.Gly1013Ser	coding	Benign
9	108892784	A	G	A108892784G	ELP1	NM_003640.5(ELP1):c.2958+202T>C	noncoding	Benign
9	108893652	A	T	A108893652T	ELP1	NM_003640.5(ELP1):c.2860+291T>A	noncoding	Benign
9	108893948	T	A	T108893948A	ELP1	NM_003640.5(ELP1):c.2855A>T:p.Lys952Ile	coding	Benign/Likely_benign
9	108893979	G	A	G108893979A	ELP1	NM_003640.5(ELP1):c.2824C>T:p.Arg942Ter	coding	Pathogenic
9	108894245	G	A	G108894245A	ELP1	NM_003640.5(ELP1):c.2737-179C>T	noncoding	Benign
9	108896601	G	A	G108896601A	ELP1	NM_003640.5(ELP1):c.2631C>T:p.Ala877=	coding	Benign/Likely_benign
9	108896683	T	G	T108896683G	ELP1	NM_003640.5(ELP1):c.2588-39A>C	noncoding	Benign
9	108896741	T	C	T108896741C	ELP1	NM_003640.5(ELP1):c.2588-97A>G	noncoding	Benign
9	108896939	G	A	G108896939A	ELP1	NM_003640.5(ELP1):c.2587+14C>T	noncoding	Benign/Likely_benign
9	108897035	G	T	G108897035T	ELP1	NM_003640.5(ELP1):c.2505C>A:p.Tyr835Ter	coding	Pathogenic
9	108897159	T	C	T108897159C	ELP1	NM_003640.5(ELP1):c.2490A>G:p.Ile830Met	coding	Benign
9	108897203	T	G	T108897203G	ELP1	NM_003640.5(ELP1):c.2446A>C:p.Ile816Leu	coding	Benign
9	108898343	C	A	C108898343A	ELP1	NM_003640.5(ELP1):c.2363+159G>T	noncoding	Benign
9	108898571	C	T	C108898571T	ELP1	NM_003640.5(ELP1):c.2294G>A:p.Gly765Glu	coding	Benign
9	108898686	A	T	A108898686T	ELP1	NM_003640.5(ELP1):c.2268T>A:p.Tyr756Ter	coding	Pathogenic
9	108898870	G	A	G108898870A	ELP1	NM_003640.5(ELP1):c.2205-121C>T	noncoding	Benign
9	108898946	G	A	G108898946A	ELP1	NM_003640.5(ELP1):c.2205-197C>T	noncoding	Benign
9	108899816	A	G	A108899816G	ELP1	NM_003640.5(ELP1):c.2204+6T>C	noncoding	Pathogenic
9	108900008	A	C	A108900008C	ELP1	NM_003640.5(ELP1):c.2131-113T>G	noncoding	Benign
9	108900070	G	A	G108900070A	ELP1	NM_003640.5(ELP1):c.2131-175C>T	noncoding	Benign
9	108900303	C	G	C108900303G	ELP1	NM_003640.5(ELP1):c.2087G>C:p.Arg696Pro	coding	Pathogenic/Likely_pathogenic
9	108900446	C	T	C108900446T	ELP1	NM_003640.5(ELP1):c.2015-71G>A	noncoding	Benign
9	108900447	G	A	G108900447A	ELP1	NM_003640.5(ELP1):c.2015-72C>T	noncoding	Benign
9	108900703	C	T	C108900703T	ELP1	NM_003640.5(ELP1):c.2015-328G>A	noncoding	Benign
9	108901433	G	T	G108901433T	ELP1	NM_003640.5(ELP1):c.2006C>A:p.Ser669Ter	coding	Pathogenic
9	108901474	G	A	G108901474A	ELP1	NM_003640.5(ELP1):c.1965C>T:p.Thr655=	coding	Benign
9	108901513	C	T	C108901513T	ELP1	NM_003640.5(ELP1):c.1926G>A:p.Thr642=	coding	Benign
9	108901841	T	C	T108901841C	ELP1	NM_003640.5(ELP1):c.1855-160A>G	noncoding	Benign
9	108901898	T	C	T108901898C	ELP1	NM_003640.5(ELP1):c.1855-217A>G	noncoding	Benign
9	108902556	C	A	C108902556A	ELP1	NM_003640.5(ELP1):c.1854+283G>T	noncoding	Benign
9	108902935	A	C	A108902935C	ELP1	NM_003640.5(ELP1):c.1758T>G:p.Pro586=	coding	Benign/Likely_benign
9	108902939	G	T	G108902939T	ELP1	NM_003640.5(ELP1):c.1754C>A:p.Ser585Ter	coding	Pathogenic
9	108903448	G	C	G108903448C	ELP1	NM_003640.5(ELP1):c.1750+115C>G	noncoding	Benign
9	108903592	G	A	G108903592A	ELP1	NM_003640.5(ELP1):c.1721C>T:p.Ala574Val	coding	Benign
9	108906372	C	T	C108906372T	ELP1	NM_003640.5(ELP1):c.1574G>A:p.Arg525Gln	coding	Benign
9	108906460	G	A	G108906460A	ELP1	NM_003640.5(ELP1):c.1486C>T:p.Gln496Ter	coding	Pathogenic
9	108906606	A	G	A108906606G	ELP1	NM_003640.5(ELP1):c.1461-121T>C	noncoding	Benign
9	108908233	T	C	T108908233C	ELP1	NM_003640.5(ELP1):c.1460+72A>G	noncoding	Benign
9	108908427	T	C	T108908427C	ELP1	NM_003640.5(ELP1):c.1361-23A>G	noncoding	Benign
9	108908544	T	C	T108908544C	ELP1	NM_003640.5(ELP1):c.1361-140A>G	noncoding	Benign
9	108910717	G	A	G108910717A	ELP1	NM_003640.5(ELP1):c.1360+293C>T	noncoding	Benign
9	108910857	G	C	G108910857C	ELP1	NM_003640.5(ELP1):c.1360+153C>G	noncoding	Benign
9	108911429	G	A	G108911429A	ELP1	NM_003640.5(ELP1):c.1190-249C>T	noncoding	Benign
9	108912310	C	T	C108912310T	ELP1	NM_003640.5(ELP1):c.1143G>A:p.Val381=	coding	Benign/Likely_benign
9	108912436	G	T	G108912436T	ELP1	NM_003640.5(ELP1):c.1017C>A:p.Ser339Arg	coding	Benign/Likely_benign
9	108912509	G	A	G108912509A	ELP1	NM_003640.5(ELP1):c.959-15C>T	noncoding	Benign/Likely_benign
9	108912612	G	A	G108912612A	ELP1	NM_003640.5(ELP1):c.959-118C>T	noncoding	Benign
9	108916148	T	A	T108916148A	ELP1	NM_003640.5(ELP1):c.958+56A>T	noncoding	Benign
9	108916228	C	T	C108916228T	ELP1	NM_003640.5(ELP1):c.934G>A:p.Glu312Lys	coding	Benign/Likely_benign
9	108917592	G	A	G108917592A	ELP1	NM_003640.5(ELP1):c.819C>T:p.Leu273=	coding	Benign
9	108917660	T	C	T108917660C	ELP1	NM_003640.5(ELP1):c.751A>G:p.Ser251Gly	coding	Benign/Likely_benign
9	108918585	T	C	T108918585C	ELP1	NM_003640.5(ELP1):c.740+226A>G	noncoding	Benign
9	108918880	C	T	C108918880T	ELP1	NM_003640.5(ELP1):c.671G>A:p.Trp224Ter	coding	Pathogenic
9	108922709	T	C	T108922709C	ELP1	NM_003640.5(ELP1):c.552+133A>G	noncoding	Benign
9	108922849	A	T	A108922849T	ELP1	NM_003640.5(ELP1):c.545T>A:p.Met182Lys	coding	Benign
9	108926548	C	T	C108926548T	ELP1	NM_003640.5(ELP1):c.441G>A:p.Gln147=	coding	Benign
9	108929786	T	C	T108929786C	ELP1	NM_003640.5(ELP1):c.286A>G:p.Ser96Gly	coding	Benign/Likely_benign
9	108929883	G	A	G108929883A	ELP1	NM_003640.5(ELP1):c.189C>T:p.Leu63=	coding	Benign/Likely_benign
9	108930852	T	C	T108930852C	ELP1	NM_003640.5(ELP1):c.150+145A>G	noncoding	Benign
9	108931143	G	A	G108931143A	ELP1	NM_003640.5(ELP1):c.4C>T:p.Arg2Ter	coding	Pathogenic/Likely_pathogenic
9	108933763	C	G	C108933763G	ELP1	NM_003640.5(ELP1):c.-56+101G>C	noncoding	Benign
9	108933879	C	G	C108933879G	ELP1	NM_003640.5(ELP1):c.-71G>C	noncoding	Benign
9	108933934	A	C	A108933934C	ELP1	NM_003640.5(ELP1):c.-126T>G	noncoding	Benign
9	108934109	G	C	G108934109C	ELP1	NM_003640.5(ELP1):c.-301C>G	noncoding	Benign
9	108972751	G	C	G108972751C	CTNNAL1	NM_003798.4(CTNNAL1):c.1271C>G:p.Thr424Ser	coding	Benign
9	109087295	G	A	G109087295A	TMEM245	NM_032012.4(TMEM245):c.1198C>T:p.Leu400=	coding	Benign
9	109137529	G	A	G109137529A	FRRS1L	NM_014334.3(FRRS1L):c.961C>T:p.Gln321Ter	coding	Pathogenic
9	109137616	G	A	G109137616A	FRRS1L	NM_014334.3(FRRS1L):c.874C>T:p.Arg292Ter	coding	Pathogenic
9	109137631	T	G	T109137631G	FRRS1L	NM_014334.3(FRRS1L):c.863-4A>C	noncoding	Benign
9	109141360	C	T	C109141360T	FRRS1L	NM_014334.3(FRRS1L):c.845G>A:p.Trp282Ter	coding	Pathogenic
9	109141469	C	A	C109141469A	FRRS1L	NM_014334.4(FRRS1L):c.583G>T:p.Gly195Ter	coding	Pathogenic
9	109141535	G	A	G109141535A	FRRS1L	NM_014334.3(FRRS1L):c.670C>T:p.Gln224Ter	coding	Pathogenic
9	109141566	G	T	G109141566T	FRRS1L	NM_014334.3(FRRS1L):c.639C>A:p.Cys213Ter	coding	Pathogenic
9	109147087	A	G	A109147087G	FRRS1L	NM_014334.3(FRRS1L):c.579T>C:p.Gly193=	coding	Benign
9	109149629	C	T	C109149629T	FRRS1L	NM_014334.4(FRRS1L):c.323+7G>A	noncoding	Benign
9	109149647	C	T	C109149647T	FRRS1L	NM_014334.3(FRRS1L):c.465G>A:p.Lys155=	coding	Benign
9	109167006	G	T	G109167006T	FRRS1L	NM_014334.3(FRRS1L):c.286C>A:p.Arg96Ser	coding	Benign
9	109167060	C	A	C109167060A	FRRS1L	NM_014334.4(FRRS1L):c.79G>T:p.Ala27Ser	coding	Benign
9	109167141	G	C	G109167141C	FRRS1L	NM_014334.4(FRRS1L):c.-3C>G	coding	Benign
9	109167291	T	A	T109167291A	FRRS1L	NM_014334.3(FRRS1L):c.1A>T:p.Met1Leu	coding	Benign
9	109389341	G	A	G109389341A	PTPN3	NM_002829.4(PTPN3):c.2145C>T:p.Ile715=	coding	Benign
9	110136296	C	T	C110136296T	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.326C>T:p.Pro109Leu	coding	Benign
9	110136428	G	A	G110136428A	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.458G>A:p.Cys153Tyr	coding	Benign
9	110136522	C	T	C110136522T	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.552C>T:p.His184=	coding	Benign
9	110136563	G	A	G110136563A	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.593G>A:p.Arg198Gln	coding	Benign
9	110136754	C	T	C110136754T	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.784C>T:p.Leu262=	coding	Benign
9	110137150	C	T	C110137150T	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.1180C>T:p.Arg394Cys	coding	Benign
9	110138061	G	A	G110138061A	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.2091G>A:p.Glu697=	coding	Benign
9	110138092	A	G	A110138092G	PALM2AKAP2	NM_001004065.4(PALM2AKAP2):c.2122A>G:p.Lys708Glu	coding	Benign
9	110668823	T	C	T110668823C	MUSK	NM_005592.4(MUSK):c.-82T>C	noncoding	Benign
9	110668985	T	G	T110668985G	MUSK	NM_005592.4(MUSK):c.79+2T>G	noncoding	Pathogenic
9	110682414	A	G	A110682414G	MUSK	NM_005592.4(MUSK):c.80-260A>G	noncoding	Benign
9	110682666	C	T	C110682666T	MUSK	NM_005592.4(MUSK):c.80-8C>T	noncoding	Benign/Likely_benign
9	110686798	G	A	G110686798A	MUSK	NM_005592.4(MUSK):c.207-319G>A	noncoding	Benign
9	110686991	G	C	G110686991C	MUSK	NM_005592.4(MUSK):c.207-126G>C	noncoding	Benign
9	110687097	T	C	T110687097C	MUSK	NM_005592.4(MUSK):c.207-20T>C	noncoding	Benign
9	110687112	T	C	T110687112C	MUSK	NM_005592.4(MUSK):c.207-5T>C	noncoding	Benign
9	110687135	C	T	C110687135T	MUSK	NM_005592.4(MUSK):c.225C>T:p.Tyr75=	coding	Benign/Likely_benign
9	110687209	C	T	C110687209T	MUSK	NM_005592.4(MUSK):c.299C>T:p.Thr100Met	coding	Benign
9	110687230	G	A	G110687230A	MUSK	NM_005592.4(MUSK):c.320G>A:p.Gly107Glu	coding	Benign/Likely_benign
9	110695068	G	A	G110695068A	MUSK	NM_005592.4(MUSK):c.359-335G>A	noncoding	Benign
9	110695446	G	A	G110695446A	MUSK	NM_005592.4(MUSK):c.402G>A:p.Glu134=	coding	Benign
9	110695519	A	G	A110695519G	MUSK	NM_005592.4(MUSK):c.475A>G:p.Ser159Gly	coding	Benign
9	110695537	G	C	G110695537C	MUSK	NM_005592.4(MUSK):c.486+7G>C	noncoding	Benign/Likely_benign
9	110697089	G	A	G110697089A	MUSK	NM_005592.4(MUSK):c.487-236G>A	noncoding	Benign
9	110697334	C	T	C110697334T	MUSK	NM_005592.4(MUSK):c.496C>T:p.Arg166Ter	coding	Pathogenic
9	110697338	T	C	T110697338C	MUSK	NM_005592.4(MUSK):c.500T>C:p.Ile167Thr	coding	Benign/Likely_benign
9	110697375	C	T	C110697375T	MUSK	NM_005592.4(MUSK):c.537C>T:p.Asn179=	coding	Benign
9	110697488	C	G	C110697488G	MUSK	NM_005592.4(MUSK):c.628+22C>G	noncoding	Benign
9	110728496	C	T	C110728496T	MUSK	NM_005592.4(MUSK):c.629-5755C>T	noncoding	Benign
9	110728645	G	A	G110728645A	MUSK	NM_005592.4(MUSK):c.629-5606G>A	noncoding	Benign
9	110747498	C	T	C110747498T	MUSK	NM_005592.4(MUSK):c.754-143C>T	noncoding	Benign
9	110767925	G	A	G110767925A	MUSK	NM_005592.4(MUSK):c.1026G>A:p.Ala342=	coding	Benign
9	110767930	C	G	C110767930G	MUSK	NM_005592.4(MUSK):c.1031C>G:p.Pro344Arg	coding	Pathogenic
9	110767961	G	A	G110767961A	MUSK	NM_005592.4(MUSK):c.1062G>A:p.Thr354=	coding	Benign/Likely_benign
9	110775792	T	C	T110775792C	MUSK	NM_005592.4(MUSK):c.1189T>C:p.Tyr397His	coding	Benign
9	110775842	G	A	G110775842A	MUSK	NM_005592.4(MUSK):c.1239G>A:p.Met413Ile	coding	Benign
9	110776905	T	A	T110776905A	MUSK	NM_005592.4(MUSK):c.1384+250T>A	noncoding	Benign
9	110776930	G	T	G110776930T	MUSK	NM_005592.4(MUSK):c.1384+275G>T	noncoding	Benign
9	110784515	A	G	A110784515G	MUSK	NM_005592.4(MUSK):c.1385-300A>G	noncoding	Benign
9	110784721	A	C	A110784721C	MUSK	NM_005592.4(MUSK):c.1385-94A>C	noncoding	Benign
9	110785042	T	C	T110785042C	MUSK	NM_005592.4(MUSK):c.1586+26T>C	noncoding	Benign
9	110785675	A	T	A110785675T	MUSK	NM_005592.4(MUSK):c.1735A>T:p.Arg579Ter	coding	Pathogenic
9	110787726	G	A	G110787726A	MUSK	NM_005592.4(MUSK):c.1815G>A:p.Met605Ile	coding	Pathogenic
9	110787888	T	C	T110787888C	MUSK	NM_005592.4(MUSK):c.1927+50T>C	noncoding	Benign
9	110800369	A	G	A110800369G	MUSK	NM_005592.4(MUSK):c.1991A>G:p.Asn664Ser	coding	Benign
9	110800558	C	T	C110800558T	MUSK	NM_005592.4(MUSK):c.2180C>T:p.Ala727Val	coding	Pathogenic
9	110800580	C	T	C110800580T	MUSK	NM_005592.4(MUSK):c.2202C>T:p.Gly734=	coding	Benign/Likely_benign
9	110800664	C	T	C110800664T	MUSK	NM_005592.4(MUSK):c.2286C>T:p.Asp762=	coding	Benign/Likely_benign
9	110800709	C	T	C110800709T	MUSK	NM_005592.4(MUSK):c.2331C>T:p.Asn777=	coding	Benign/Likely_benign
9	110800863	G	T	G110800863T	MUSK	NM_005592.4(MUSK):c.2485G>T:p.Val829Leu	coding	Benign
9	110800910	A	G	A110800910G	MUSK	NM_005592.4(MUSK):c.2532A>G:p.Ala844=	coding	Benign
9	110800951	G	A	G110800951A	MUSK	NM_005592.4(MUSK):c.2573G>A:p.Arg858His	coding	Benign/Likely_benign
9	110800977	G	T	G110800977T	MUSK	NM_005592.4(MUSK):c.2599G>T:p.Val867Leu	coding	Benign
9	110941779	C	T	C110941779T	LPAR1	NM_001401.5(LPAR1):c.435G>A:p.Glu145=	coding	Benign
9	111578960	A	G	A111578960G	PTGR1	NM_001146108.2(PTGR1):c.496-9T>C	noncoding	Benign
9	112080173	G	A	G112080173A	SUSD1	NM_022486.5(SUSD1):c.1475-8C>T	noncoding	Benign
9	112111717	C	T	C112111717T	SUSD1	NM_022486.5(SUSD1):c.1108G>A:p.Val370Met	coding	Benign
9	112143473	G	A	G112143473A	SUSD1	NM_022486.5(SUSD1):c.524C>T:p.Thr175Ile	coding	Benign
9	112149311	G	A	G112149311A	SUSD1	NM_022486.5(SUSD1):c.306C>T:p.Cys102=	coding	Benign
9	112157519	G	A	G112157519A	SUSD1	NM_022486.5(SUSD1):c.198C>T:p.Asn66=	coding	Benign
9	112157606	G	A	G112157606A	SUSD1	NM_022486.5(SUSD1):c.111C>T:p.Asp37=	coding	Benign
9	112405714	A	T	A112405714T	HSDL2	NM_032303.5(HSDL2):c.272A>T:p.Lys91Ile	coding	Benign
9	112409029	T	C	T112409029C	HSDL2	NM_032303.5(HSDL2):c.395+8T>C	noncoding	Benign
9	112454041	A	G	A112454041G	HSDL2	NM_032303.5(HSDL2):c.894A>G:p.Lys298=	coding	Benign
9	112889585	G	A	G112889585A	SLC46A2	NM_033051.4(SLC46A2):c.1097C>T:p.Ala366Val	coding	Benign
9	112889905	A	G	A112889905G	SLC46A2	NM_033051.4(SLC46A2):c.777T>C:p.Asp259=	coding	Benign
9	112889923	G	A	G112889923A	SLC46A2	NM_033051.4(SLC46A2):c.759C>T:p.Tyr253=	coding	Benign
9	112889956	G	A	G112889956A	SLC46A2	NM_033051.4(SLC46A2):c.726C>T:p.Ala242=	coding	Benign
9	113211764	T	G	T113211764G	FKBP15	NM_015258.2(FKBP15):c.54-172A>C	noncoding	Benign
9	113256221	C	G	C113256221G	SLC31A1	NM_001859.4(SLC31A1):c.73C>G:p.Pro25Ala	coding	Benign
9	113260425	C	T	C113260425T	SLC31A1	NM_001859.4(SLC31A1):c.525C>T:p.Phe175=	coding	Benign
9	113278969	A	G	A113278969G	PRPF4	NM_001244926.2(PRPF4):c.230A>G:p.His77Arg	coding	Benign
9	113279036	T	C	T113279036C	PRPF4	NM_001244926.2(PRPF4):c.297T>C:p.Asn99=	coding	Benign
9	113286698	C	T	C113286698T	PRPF4	NM_001244926.2(PRPF4):c.809-7C>T	noncoding	Benign
9	113291615	C	T	C113291615T	PRPF4	NM_001244926.2(PRPF4):c.1521C>T:p.Ala507=	coding	Benign
9	113386350	C	T	C113386350T	ALAD	NM_000031.6(ALAD):c.*1950G>A	noncoding	Benign
9	113386563	A	G	A113386563G	ALAD	NM_000031.6(ALAD):c.*1737T>C	noncoding	Benign
9	113387429	G	T	G113387429T	ALAD	NM_000031.6(ALAD):c.*871C>A	noncoding	Benign
9	113387487	T	C	T113387487C	ALAD	NM_000031.6(ALAD):c.*813A>G	noncoding	Benign
9	113387687	C	T	C113387687T	ALAD	NM_000031.6(ALAD):c.*613G>A	noncoding	Benign
9	113387829	G	A	G113387829A	ALAD	NM_000031.6(ALAD):c.*471C>T	noncoding	Benign
9	113389055	G	A	G113389055A	ALAD	NM_000031.6(ALAD):c.853C>T:p.Leu285=	coding	Benign
9	113389085	C	T	C113389085T	ALAD	NM_000031.6(ALAD):c.823G>A:p.Val275Met	coding	Pathogenic
9	113389088	C	T	C113389088T	ALAD	NM_000031.6(ALAD):c.820G>A:p.Ala274Thr	coding	Pathogenic
9	113390398	C	A	C113390398A	ALAD	NM_000031.6(ALAD):c.570+7G>T	noncoding	Benign
9	113390606	C	T	C113390606T	ALAD	NM_000031.6(ALAD):c.468G>A:p.Ala156=	coding	Benign/Likely_benign
9	113390611	A	G	A113390611G	ALAD	NM_000031.6(ALAD):c.463T>C:p.Leu155=	coding	Benign
9	113390660	G	A	G113390660A	ALAD	NM_000031.6(ALAD):c.414C>T:p.Asn138=	coding	Benign
9	113390689	T	C	T113390689C	ALAD	NM_000031.6(ALAD):c.398-13A>G	noncoding	Benign
9	113390786	G	A	G113390786A	ALAD	NM_000031.6(ALAD):c.397+12C>T	noncoding	Benign
9	113390798	C	T	C113390798T	ALAD	NM_000031.6(ALAD):c.397G>A:p.Gly133Arg	coding	Pathogenic
9	113390835	A	G	A113390835G	ALAD	NM_000031.6(ALAD):c.360T>C:p.Asp120=	coding	Benign
9	113391611	C	G	C113391611G	ALAD	NM_000031.6(ALAD):c.177G>C:p.Lys59Asn	coding	Benign
9	113391620	A	G	A113391620G	ALAD	NM_000031.6(ALAD):c.168T>C:p.Tyr56=	coding	Benign
9	113391634	G	A	G113391634A	ALAD	NM_000031.6(ALAD):c.165-11C>T	noncoding	Pathogenic
9	113392142	G	A	G113392142A	ALAD	NM_000031.6(ALAD):c.141C>T:p.Ile47=	coding	Benign
9	113393488	G	A	G113393488A	ALAD	NM_000031.6(ALAD):c.72C>T:p.Thr24=	coding	Benign
9	113393545	G	A	G113393545A	ALAD	NM_000031.6(ALAD):c.15C>T:p.Ser5=	coding	Benign/Likely_benign
9	113583688	C	T	C113583688T	RGS3	NM_144488.6(RGS3):c.2276C>T:p.Pro759Leu	coding	Benign
9	113584235	G	A	G113584235A	RGS3	NM_144488.6(RGS3):c.2823G>A:p.Thr941=	coding	Benign
9	114049174	C	T	C114049174T	ZNF618	NM_001318042.2(ZNF618):c.1872C>T:p.Ser624=	coding	Benign
9	114072919	A	G	A114072919G	AMBP	NM_001633.4(AMBP):c.556+6T>C	noncoding	Benign
9	114093496	G	A	G114093496A	KIF12	NM_138424.1(KIF12):c.988C>T:p.Arg330Cys	coding	Benign
9	114093894	T	C	T114093894C	KIF12	NM_138424.1(KIF12):c.978A>G:p.Ala326=	coding	Benign
9	114094364	A	G	A114094364G	KIF12	NM_138424.1(KIF12):c.797T>C:p.Met266Thr	coding	Benign
9	114167707	G	A	G114167707A	COL27A1	NM_032888.4(COL27A1):c.152G>A:p.Arg51Gln	coding	Benign
9	114167733	G	A	G114167733A	COL27A1	NM_032888.4(COL27A1):c.178G>A:p.Gly60Arg	coding	Benign
9	114167771	G	A	G114167771A	COL27A1	NM_032888.4(COL27A1):c.216G>A:p.Ser72=	coding	Benign
9	114167813	G	A	G114167813A	COL27A1	NM_032888.4(COL27A1):c.258G>A:p.Thr86=	coding	Benign
9	114167925	C	G	C114167925G	COL27A1	NM_032888.4(COL27A1):c.370C>G:p.Leu124Val	coding	Benign
9	114167960	G	A	G114167960A	COL27A1	NM_032888.4(COL27A1):c.405G>A:p.Thr135=	coding	Benign
9	114167963	C	T	C114167963T	COL27A1	NM_032888.4(COL27A1):c.408C>T:p.Val136=	coding	Benign
9	114168014	C	T	C114168014T	COL27A1	NM_032888.4(COL27A1):c.459C>T:p.Asp153=	coding	Benign
9	114168038	C	T	C114168038T	COL27A1	NM_032888.4(COL27A1):c.483C>T:p.Leu161=	coding	Benign
9	114168128	C	T	C114168128T	COL27A1	NM_032888.4(COL27A1):c.573C>T:p.Leu191=	coding	Benign
9	114168167	G	A	G114168167A	COL27A1	NM_032888.4(COL27A1):c.612G>A:p.Pro204=	coding	Benign
9	114168340	C	A	C114168340A	COL27A1	NM_032888.4(COL27A1):c.785C>A:p.Ser262Tyr	coding	Benign
9	114168348	G	A	G114168348A	COL27A1	NM_032888.4(COL27A1):c.793G>A:p.Ala265Thr	coding	Benign
9	114168370	T	C	T114168370C	COL27A1	NM_032888.4(COL27A1):c.815T>C:p.Leu272Ser	coding	Benign
9	114168395	G	T	G114168395T	COL27A1	NM_032888.4(COL27A1):c.840G>T:p.Gly280=	coding	Benign
9	114168448	C	T	C114168448T	COL27A1	NM_032888.4(COL27A1):c.893C>T:p.Thr298Ile	coding	Benign
9	114168494	G	A	G114168494A	COL27A1	NM_032888.4(COL27A1):c.939G>A:p.Ala313=	coding	Benign
9	114168587	T	C	T114168587C	COL27A1	NM_032888.4(COL27A1):c.1032T>C:p.Ser344=	coding	Benign
9	114168596	G	C	G114168596C	COL27A1	NM_032888.4(COL27A1):c.1041G>C:p.Thr347=	coding	Benign
9	114168600	C	T	C114168600T	COL27A1	NM_032888.4(COL27A1):c.1045C>T:p.Arg349Cys	coding	Benign
9	114168615	C	T	C114168615T	COL27A1	NM_032888.4(COL27A1):c.1060C>T:p.Gln354Ter	coding	Pathogenic
9	114168718	C	T	C114168718T	COL27A1	NM_032888.4(COL27A1):c.1163C>T:p.Thr388Ile	coding	Benign
9	114169010	T	C	T114169010C	COL27A1	NM_032888.4(COL27A1):c.1455T>C:p.Thr485=	coding	Benign
9	114169172	G	A	G114169172A	COL27A1	NM_032888.4(COL27A1):c.1617G>A:p.Ser539=	coding	Benign
9	114169209	C	A	C114169209A	COL27A1	NM_032888.4(COL27A1):c.1654C>A:p.Arg552=	coding	Benign
9	114169210	G	A	G114169210A	COL27A1	NM_032888.4(COL27A1):c.1655G>A:p.Arg552Gln	coding	Benign
9	114169409	G	A	G114169409A	COL27A1	NM_032888.4(COL27A1):c.1854G>A:p.Thr618=	coding	Benign
9	114195977	G	C	G114195977C	COL27A1	NM_032888.4(COL27A1):c.2089G>C:p.Gly697Arg	coding	Pathogenic
9	114196001	C	T	C114196001T	COL27A1	NM_032888.4(COL27A1):c.2113C>T:p.Pro705Ser	coding	Benign
9	114196003	G	A	G114196003A	COL27A1	NM_032888.4(COL27A1):c.2115G>A:p.Pro705=	coding	Benign
9	114196007	C	T	C114196007T	COL27A1	NM_032888.4(COL27A1):c.2119C>T:p.Arg707Ter	coding	Pathogenic
9	114205136	C	G	C114205136G	COL27A1	NM_032888.4(COL27A1):c.2159C>G:p.Pro720Arg	coding	Benign
9	114206303	G	A	G114206303A	COL27A1	NM_032888.4(COL27A1):c.2268+7G>A	noncoding	Benign
9	114209701	C	T	C114209701T	COL27A1	NM_032888.4(COL27A1):c.2295C>T:p.Phe765=	coding	Benign
9	114219828	G	A	G114219828A	COL27A1	NM_032888.4(COL27A1):c.2405G>A:p.Gly802Glu	coding	Pathogenic
9	114237670	C	T	C114237670T	COL27A1	NM_032888.4(COL27A1):c.2682C>T:p.Val894=	coding	Benign
9	114240258	C	T	C114240258T	COL27A1	NM_032888.4(COL27A1):c.2766C>T:p.Gly922=	coding	Benign
9	114240461	G	T	G114240461T	COL27A1	NM_032888.4(COL27A1):c.2809G>T:p.Gly937Ter	coding	Pathogenic
9	114245901	G	A	G114245901A	COL27A1	NM_032888.4(COL27A1):c.2970G>A:p.Val990=	coding	Benign
9	114250612	T	C	T114250612C	COL27A1	NM_032888.4(COL27A1):c.2980-3T>C	noncoding	Benign
9	114258602	G	A	G114258602A	COL27A1	NM_032888.4(COL27A1):c.3195+8G>A	noncoding	Benign
9	114270726	A	G	A114270726G	COL27A1	NM_032888.4(COL27A1):c.3556-2A>G	noncoding	Pathogenic
9	114275753	C	T	C114275753T	COL27A1	NM_032888.4(COL27A1):c.3702C>T:p.Gly1234=	coding	Benign
9	114282306	C	T	C114282306T	COL27A1	NM_032888.4(COL27A1):c.3747C>T:p.Gly1249=	coding	Benign
9	114282317	G	A	G114282317A	COL27A1	NM_032888.4(COL27A1):c.3758G>A:p.Arg1253His	coding	Benign
9	114282462	C	G	C114282462G	COL27A1	NM_032888.4(COL27A1):c.3777C>G:p.Ala1259=	coding	Benign
9	114284762	A	T	A114284762T	COL27A1	NM_032888.4(COL27A1):c.3972A>T:p.Gly1324=	coding	Benign
9	114288716	T	G	T114288716G	COL27A1	NM_032888.4(COL27A1):c.4059T>G:p.Asp1353Glu	coding	Benign
9	114288723	G	C	G114288723C	COL27A1	NM_032888.4(COL27A1):c.4066G>C:p.Asp1356His	coding	Benign
9	114290106	G	A	G114290106A	COL27A1	NM_032888.4(COL27A1):c.4255G>A:p.Val1419Ile	coding	Benign
9	114290289	A	G	A114290289G	COL27A1	NM_032888.4(COL27A1):c.4326A>G:p.Gly1442=	coding	Benign
9	114301703	C	A	C114301703A	COL27A1	NM_032888.4(COL27A1):c.4831C>A:p.Arg1611=	coding	Benign
9	114306546	G	A	G114306546A	COL27A1	NM_032888.4(COL27A1):c.4965G>A:p.Val1655=	coding	Benign
9	114306615	G	A	G114306615A	COL27A1	NM_032888.4(COL27A1):c.5034G>A:p.Thr1678=	coding	Benign
9	114306639	C	T	C114306639T	COL27A1	NM_032888.4(COL27A1):c.5058C>T:p.Pro1686=	coding	Benign
9	114307729	A	G	A114307729G	COL27A1	NM_032888.4(COL27A1):c.5168A>G:p.Asn1723Ser	coding	Benign
9	114307746	C	T	C114307746T	COL27A1	NM_032888.4(COL27A1):c.5185C>T:p.Gln1729Ter	coding	Pathogenic
9	114307784	C	T	C114307784T	COL27A1	NM_032888.4(COL27A1):c.5217+6C>T	noncoding	Benign
9	114323246	G	A	G114323246A	ORM1	NM_000607.4(ORM1):c.113G>A:p.Arg38Gln	coding	Benign
9	114331869	C	T	C114331869T	ORM2	NC_000009.12:g.114331869C>T	coding	Benign
9	114347880	T	C	T114347880C	AKNA	NM_001317950.2(AKNA):c.3242A>G:p.Gln1081Arg	coding	Benign
9	114350927	G	A	G114350927A	AKNA	NM_001317950.2(AKNA):c.3153C>T:p.Ala1051=	coding	Benign
9	114355965	T	C	T114355965C	AKNA	NM_001317950.2(AKNA):c.3018A>G:p.Ala1006=	coding	Benign
9	114356099	C	T	C114356099T	AKNA	NM_001317950.2(AKNA):c.2884G>A:p.Val962Met	coding	Benign
9	114367641	G	C	G114367641C	AKNA	NM_001317950.2(AKNA):c.1630C>G:p.Leu544Val	coding	Benign
9	114368496	G	A	G114368496A	AKNA	NM_001317950.2(AKNA):c.1516C>T:p.Arg506Cys	coding	Benign
9	114377474	G	A	G114377474A	AKNA	NM_001317950.2(AKNA):c.333C>T:p.Leu111=	coding	Benign
9	114402316	A	C	A114402316C	WHRN	NM_015404.4(WHRN):c.*438T>G	noncoding	Benign
9	114402892	G	T	G114402892T	WHRN	NM_015404.4(WHRN):c.2586C>A:p.His862Gln	coding	Benign/Likely_benign
9	114403754	T	C	T114403754C	WHRN	NM_015404.4(WHRN):c.2418+142A>G	noncoding	Benign
9	114403926	G	T	G114403926T	WHRN	NM_015404.4(WHRN):c.2388C>A:p.Asn796Lys	coding	Benign
9	114403966	A	G	A114403966G	WHRN	NM_015404.4(WHRN):c.2348T>C:p.Val783Ala	coding	Benign
9	114403982	G	A	G114403982A	WHRN	NM_015404.4(WHRN):c.2332C>T:p.Arg778Ter	coding	Pathogenic
9	114404031	G	A	G114404031A	WHRN	NM_015404.4(WHRN):c.2283C>T:p.Ser761=	coding	Benign
9	114404058	C	G	C114404058G	WHRN	NM_015404.4(WHRN):c.2256G>C:p.Gln752His	coding	Benign
9	114404267	A	G	A114404267G	WHRN	NM_015404.4(WHRN):c.2237-190T>C	noncoding	Benign
9	114406530	C	T	C114406530T	WHRN	NM_015404.4(WHRN):c.2061G>A:p.Pro687=	coding	Benign
9	114406753	A	G	A114406753G	WHRN	NM_015404.4(WHRN):c.1838T>C:p.Met613Thr	coding	Benign
9	114407020	A	G	A114407020G	WHRN	NM_015404.4(WHRN):c.1699-128T>C	noncoding	Benign
9	114407655	C	A	C114407655A	WHRN	NM_015404.4(WHRN):c.1698+292G>T	noncoding	Benign
9	114407961	G	C	G114407961C	WHRN	NM_015404.4(WHRN):c.1684C>G:p.Pro562Ala	coding	Benign
9	114408030	C	T	C114408030T	WHRN	NM_015404.4(WHRN):c.1627-12G>A	noncoding	Benign
9	114423115	A	G	A114423115G	WHRN	NM_015404.4(WHRN):c.1626+199T>C	noncoding	Benign
9	114423425	C	T	C114423425T	WHRN	NM_015404.4(WHRN):c.1515G>A:p.Ala505=	coding	Benign/Likely_benign
9	114423524	C	T	C114423524T	WHRN	NM_015404.4(WHRN):c.1417-1G>A	coding	Pathogenic
9	114423747	T	C	T114423747C	WHRN	NM_015404.4(WHRN):c.1417-224A>G	noncoding	Benign
9	114424183	T	C	T114424183C	WHRN	NM_015404.4(WHRN):c.1416+151A>G	noncoding	Benign
9	114424397	A	G	A114424397G	WHRN	NM_015404.4(WHRN):c.1353T>C:p.Gly451=	coding	Benign
9	114424398	C	T	C114424398T	WHRN	NM_015404.4(WHRN):c.1352G>A:p.Gly451Asp	coding	Benign/Likely_benign
9	114424432	C	T	C114424432T	WHRN	NM_015404.4(WHRN):c.1318G>A:p.Ala440Thr	coding	Benign
9	114424472	C	T	C114424472T	WHRN	NM_015404.4(WHRN):c.1278G>A:p.Leu426=	coding	Benign
9	114424483	G	A	G114424483A	WHRN	NM_015404.4(WHRN):c.1267C>T:p.Arg423Ter	coding	Pathogenic
9	114425114	C	T	C114425114T	WHRN	NM_015404.4(WHRN):c.1167-90G>A	noncoding	Benign
9	114425289	G	T	G114425289T	WHRN	NM_015404.4(WHRN):c.1167-265C>A	noncoding	Benign
9	114426193	C	T	C114426193T	WHRN	NM_015404.4(WHRN):c.1166+18G>A	noncoding	Benign/Likely_benign
9	114426286	T	C	T114426286C	WHRN	NM_015404.4(WHRN):c.1091A>G:p.His364Arg	coding	Benign
9	114466061	C	T	C114466061T	WHRN	NM_015404.4(WHRN):c.963+206G>A	noncoding	Benign
9	114478626	C	T	C114478626T	WHRN	NM_015404.4(WHRN):c.764G>A:p.Gly255Asp	coding	Benign/Likely_benign
9	114503126	C	T	C114503126T	WHRN	NM_015404.4(WHRN):c.618+1058G>A	coding	Benign
9	114504243	G	A	G114504243A	WHRN	NM_015404.4(WHRN):c.559C>T:p.Gln187Ter	coding	Pathogenic
9	114504393	C	G	C114504393G	WHRN	NM_015404.4(WHRN):c.409G>C:p.Glu137Gln	coding	Benign
9	114504495	G	A	G114504495A	WHRN	NM_015404.4(WHRN):c.307C>T:p.Gln103Ter	coding	Pathogenic
9	114504568	C	T	C114504568T	WHRN	NM_015404.4(WHRN):c.234G>A:p.Leu78=	coding	Benign
9	114504646	C	T	C114504646T	WHRN	NM_015404.4(WHRN):c.156G>A:p.Glu52=	coding	Benign
9	114504685	C	T	C114504685T	WHRN	NM_015404.4(WHRN):c.117G>A:p.Val39=	coding	Benign
9	114504727	G	A	G114504727A	WHRN	NM_015404.4(WHRN):c.75C>T:p.Gly25=	coding	Benign/Likely_benign
9	114504776	G	T	G114504776T	WHRN	NM_015404.4(WHRN):c.26C>A:p.Ser9Ter	coding	Pathogenic
9	114504892	G	A	G114504892A	WHRN	NM_015404.4(WHRN):c.-91C>T	noncoding	Benign
9	114505058	G	C	G114505058C	WHRN	NM_015404.4(WHRN):c.-257C>G	noncoding	Benign/Likely_benign
9	114505096	G	C	G114505096C	WHRN	NM_015404.4(WHRN):c.-295C>G	noncoding	Benign/Likely_benign
9	114505115	G	A	G114505115A	WHRN	NM_015404.4(WHRN):c.-314C>T	noncoding	Benign/Likely_benign
9	114505192	G	T	G114505192T	WHRN	NM_015404.4(WHRN):c.-391C>A	noncoding	Benign
9	114505311	C	T	C114505311T	WHRN	NM_015404.4(WHRN):c.-510G>A	noncoding	Benign
9	114790878	A	T	A114790878T	TNFSF15	NM_005118.4(TNFSF15):c.330T>A:p.Phe110Leu	coding	Benign
9	114792432	T	G	T114792432G	TNFSF15	NM_005118.4(TNFSF15):c.276A>C:p.Gly92=	coding	Benign
9	114805939	C	T	C114805939T	TNFSF15	NM_005118.4(TNFSF15):c.74G>A:p.Arg25Lys	coding	Benign
9	115023986	T	C	T115023986C	TNC	NM_002160.4(TNC):c.6482A>G:p.Asn2161Ser	coding	Benign
9	115029385	C	T	C115029385T	TNC	NM_002160.4(TNC):c.6144G>A:p.Gly2048=	coding	Benign
9	115029430	G	A	G115029430A	TNC	NM_002160.4(TNC):c.6099C>T:p.Arg2033=	coding	Benign
9	115030320	C	T	C115030320T	TNC	NM_002160.4(TNC):c.6006G>A:p.Leu2002=	coding	Benign
9	115035246	G	T	G115035246T	TNC	NM_002160.4(TNC):c.5745C>A:p.Thr1915=	coding	Benign
9	115040947	T	A	T115040947A	TNC	NM_002160.4(TNC):c.5386A>T:p.Thr1796Ser	coding	Pathogenic
9	115040992	C	T	C115040992T	TNC	NM_002160.4(TNC):c.5341G>A:p.Ala1781Thr	coding	Benign
9	115041016	C	T	C115041016T	TNC	NM_002160.4(TNC):c.5317G>A:p.Val1773Met	coding	Pathogenic
9	115042244	C	T	C115042244T	TNC	NM_002160.4(TNC):c.5223G>A:p.Arg1741=	coding	Benign
9	115042274	C	T	C115042274T	TNC	NM_002160.4(TNC):c.5193G>A:p.Arg1731=	coding	Benign
9	115046442	C	T	C115046442T	TNC	NM_002160.4(TNC):c.5093G>A:p.Arg1698Gln	coding	Benign
9	115048372	G	A	G115048372A	TNC	NM_002160.4(TNC):c.4740C>T:p.Thr1580=	coding	Benign
9	115063845	C	T	C115063845T	TNC	NM_002160.4(TNC):c.3711G>A:p.Gly1237=	coding	Benign
9	115064759	G	T	G115064759T	TNC	NM_002160.4(TNC):c.3375C>A:p.Ser1125Arg	coding	Benign
9	115064781	C	T	C115064781T	TNC	NM_002160.4(TNC):c.3353G>A:p.Arg1118Gln	coding	Benign
9	115064848	C	T	C115064848T	TNC	NM_002160.4(TNC):c.3286G>A:p.Ala1096Thr	coding	Benign
9	115073652	G	A	G115073652A	TNC	NM_002160.4(TNC):c.3165C>T:p.Ala1055=	coding	Benign
9	115077997	T	C	T115077997C	TNC	NM_002160.4(TNC):c.2620A>G:p.Ile874Val	coding	Benign/Likely_benign
9	115078055	G	A	G115078055A	TNC	NM_002160.4(TNC):c.2562C>T:p.Asp854=	coding	Benign
9	115078127	G	A	G115078127A	TNC	NM_002160.4(TNC):c.2490C>T:p.Ile830=	coding	Benign
9	115081787	T	G	T115081787G	TNC	NM_002160.4(TNC):c.2389A>C:p.Arg797=	coding	Benign
9	115081803	C	T	C115081803T	TNC	NM_002160.4(TNC):c.2373G>A:p.Arg791=	coding	Benign
9	115082732	T	C	T115082732C	TNC	NM_002160.4(TNC):c.2207A>G:p.Asp736Gly	coding	Benign
9	115084220	C	G	C115084220G	TNC	NM_002160.4(TNC):c.2120G>C:p.Arg707Thr	coding	Benign
9	115085918	C	T	C115085918T	TNC	NM_002160.4(TNC):c.1813G>A:p.Val605Ile	coding	Benign
9	115086012	G	A	G115086012A	TNC	NM_002160.4(TNC):c.1719C>T:p.Cys573=	coding	Benign
9	115086089	C	T	C115086089T	TNC	NM_002160.4(TNC):c.1642G>A:p.Val548Met	coding	Benign
9	115086223	C	T	C115086223T	TNC	NM_002160.4(TNC):c.1508G>A:p.Arg503Lys	coding	Benign
9	115086389	G	C	G115086389C	TNC	NM_002160.4(TNC):c.1342C>G:p.Arg448Gly	coding	Benign/Likely_benign
9	115086786	G	A	G115086786A	TNC	NM_002160.4(TNC):c.945C>T:p.Cys315=	coding	Benign
9	115086950	C	T	C115086950T	TNC	NM_002160.4(TNC):c.781G>A:p.Gly261Ser	coding	Benign
9	115087094	C	T	C115087094T	TNC	NM_002160.4(TNC):c.637G>A:p.Gly213Ser	coding	Benign
9	115090863	G	A	G115090863A	TNC	NM_002160.4(TNC):c.156C>T:p.His52=	coding	Benign
9	115090923	C	T	C115090923T	TNC	NM_002160.4(TNC):c.96G>A:p.Lys32=	coding	Benign
9	115090944	G	C	G115090944C	TNC	NM_002160.4(TNC):c.75C>G:p.Leu25=	coding	Benign
9	115401219	G	A	G115401219A	DELEC1	NR_163556.1(DELEC1):n.636G>A	coding	Benign
9	116187201	G	A	G116187201A	PAPPA	NM_002581.5(PAPPA):c.463G>A:p.Val155Met	coding	Benign
9	116220050	G	C	G116220050C	PAPPA	NM_002581.5(PAPPA):c.2032G>C:p.Ala678Pro	coding	Benign
9	116344626	G	A	G116344626A	PAPPA	NM_002581.5(PAPPA):c.3695G>A:p.Arg1232His	coding	Benign
9	116344633	C	T	C116344633T	PAPPA	NM_002581.5(PAPPA):c.3702C>T:p.His1234=	coding	Benign
9	116344669	C	T	C116344669T	PAPPA	NM_002581.5(PAPPA):c.3738C>T:p.Tyr1246=	coding	Benign
9	116352827	C	T	C116352827T	PAPPA	NM_002581.5(PAPPA):c.4086C>T:p.Cys1362=	coding	Benign
9	116362596	T	C	T116362596C	PAPPA	NM_002581.5(PAPPA):c.4352T>C:p.Leu1451Pro	coding	Benign
9	116426027	G	T	G116426027T	ASTN2	NM_001365068.1(ASTN2):c.3844C>A:p.Arg1282=	coding	Benign
9	116487411	C	T	C116487411T	ASTN2	NM_001365068.1(ASTN2):c.3445G>A:p.Val1149Ile	coding	Benign
9	116487455	G	A	G116487455A	ASTN2	NM_001365068.1(ASTN2):c.3401C>T:p.Thr1134Ile	coding	Benign
9	116620312	C	T	C116620312T	ASTN2	NM_001365068.1(ASTN2):c.3204G>A:p.Pro1068=	coding	Benign
9	116620360	G	A	G116620360A	ASTN2	NM_001365068.1(ASTN2):c.3156C>T:p.Ser1052=	coding	Benign
9	116687330	G	C	G116687330C	TRIM32	NM_001365068.1(ASTN2):c.2807-35537C>G	coding	Benign
9	116697564	G	A	G116697564A	TRIM32	NM_001365068.1(ASTN2):c.2806+28207C>T	noncoding	Benign
9	116698130	C	T	C116698130T	TRIM32	NM_001365068.1(ASTN2):c.2806+27641G>A	coding	Pathogenic
9	116698251	T	A	T116698251A	TRIM32	NM_001365068.1(ASTN2):c.2806+27520A>T	coding	Pathogenic
9	116698420	C	A	C116698420A	TRIM32	NM_012210.4(TRIM32):c.678C>A:p.Tyr226Ter	coding	Pathogenic
9	116698943	A	T	A116698943T	TRIM32	NM_001365068.1(ASTN2):c.2806+26828T>A	coding	Pathogenic
9	116698996	G	A	G116698996A	TRIM32	NM_012210.4(TRIM32):c.1254G>A:p.Val418=	coding	Benign
9	116699017	T	C	T116699017C	TRIM32	NM_001365068.1(ASTN2):c.2806+26754A>G	coding	Benign
9	116699201	G	A	G116699201A	TRIM32	NM_001365068.1(ASTN2):c.2806+26570C>T	coding	Pathogenic
9	116699351	C	T	C116699351T	TRIM32	NM_001365068.1(ASTN2):c.2806+26420G>A	coding	Benign
9	116699833	C	T	C116699833T	TRIM32	NM_001365068.1(ASTN2):c.2806+25938G>A	coding	Benign
9	116700293	G	A	G116700293A	TRIM32	NM_001365068.1(ASTN2):c.2806+25478C>T	coding	Benign
9	116700549	C	T	C116700549T	TRIM32	NM_012210.4(TRIM32):c.*845C>T	coding	Benign
9	116700910	T	C	T116700910C	TRIM32	NM_001365068.1(ASTN2):c.2806+24861A>G	coding	Benign
9	116725762	C	T	C116725762T	ASTN2	NM_001365068.1(ASTN2):c.2806+9G>A	noncoding	Benign
9	116729024	C	T	C116729024T	ASTN2	NM_001365068.1(ASTN2):c.2594G>A:p.Arg865His	coding	Benign
9	117008216	G	A	G117008216A	ASTN2	NM_001365068.1(ASTN2):c.1467C>T:p.Ser489=	coding	Benign
9	117096063	G	A	G117096063A	ASTN2	NM_001365068.1(ASTN2):c.1257C>T:p.Arg419=	coding	Benign
9	117214575	C	T	C117214575T	ASTN2	NM_001365068.1(ASTN2):c.798G>A:p.Glu266=	coding	Benign
9	117214668	C	T	C117214668T	ASTN2	NM_001365068.1(ASTN2):c.705G>A:p.Lys235=	coding	Benign
9	117214701	G	C	G117214701C	ASTN2	NM_001365068.1(ASTN2):c.672C>G:p.Thr224=	coding	Benign
9	117291395	G	A	G117291395A	ASTN2	NM_001365068.1(ASTN2):c.561C>T:p.Thr187=	coding	Benign
9	117414597	G	T	G117414597T	ASTN2	NM_001365068.1(ASTN2):c.342C>A:p.Ala114=	coding	Benign
9	117712467	C	T	C117712467T	TLR4	NM_138554.5(TLR4):c.339C>T:p.Pro113=	coding	Benign
9	117712563	C	A	C117712563A	TLR4	NM_138554.5(TLR4):c.435C>A:p.Pro145=	coding	Benign
9	117712617	A	G	A117712617G	TLR4	NM_138554.5(TLR4):c.489A>G:p.Gln163=	coding	Benign
9	117713024	A	G	A117713024G	TLR4	NM_138554.5(TLR4):c.896A>G:p.Asp299Gly	coding	Benign
9	117713190	A	G	A117713190G	TLR4	NM_138554.5(TLR4):c.1062A>G:p.Lys354=	coding	Benign
9	117713324	C	T	C117713324T	TLR4	NM_138554.5(TLR4):c.1196C>T:p.Thr399Ile	coding	Benign
9	117714087	G	A	G117714087A	TLR4	NM_138554.5(TLR4):c.1959G>A:p.Lys653=	coding	Benign
9	119167448	G	A	G119167448A	BRINP1	NM_014618.3(BRINP1):c.1922C>T:p.Ser641Leu	coding	Benign
9	119167654	C	T	C119167654T	BRINP1	NM_014618.3(BRINP1):c.1716G>A:p.Ser572=	coding	Benign
9	119214031	G	A	G119214031A	BRINP1	NM_014618.3(BRINP1):c.810C>T:p.Ala270=	coding	Benign
9	120388972	C	T	C120388972T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.*264G>A	noncoding	Benign
9	120389401	A	G	A120389401G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5626-109T>C	noncoding	Benign
9	120389821	C	G	C120389821G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5579-34G>C	noncoding	Benign
9	120389963	A	C	A120389963C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5579-176T>G	noncoding	Benign
9	120394202	T	C	T120394202C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578+310A>G	noncoding	Benign
9	120394313	A	G	A120394313G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578+199T>C	noncoding	Benign
9	120394379	T	G	T120394379G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578+133A>C	noncoding	Benign
9	120394464	G	A	G120394464A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578+48C>T	noncoding	Benign
9	120394483	G	C	G120394483C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578+29C>G	noncoding	Benign
9	120394512	A	G	A120394512G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5578T>C:p.Leu1860=	coding	Benign/Likely_benign
9	120400517	G	A	G120400517A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5451+225C>T	noncoding	Benign
9	120400775	G	A	G120400775A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5418C>T:p.Pro1806=	coding	Benign/Likely_benign
9	120401198	C	T	C120401198T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5308-313G>A	noncoding	Benign
9	120402886	G	A	G120402886A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5227C>T:p.Gln1743Ter	coding	Pathogenic
9	120403882	A	G	A120403882G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5041+154T>C	noncoding	Benign
9	120407154	C	G	C120407154G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4821G>C:p.Arg1607Ser	coding	Benign/Likely_benign
9	120407440	C	G	C120407440G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4727-192G>C	noncoding	Benign
9	120408401	G	A	G120408401A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4672C>T:p.Arg1558Ter	coding	Pathogenic
9	120408408	C	A	C120408408A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4665G>T:p.Gln1555His	coding	Benign/Likely_benign
9	120408455	C	G	C120408455G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4618G>C:p.Val1540Leu	coding	Benign
9	120408642	C	G	C120408642G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4605-174G>C	noncoding	Benign
9	120409126	C	G	C120409126G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4604+1G>C	noncoding	Pathogenic
9	120409184	T	C	T120409184C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4547A>G:p.Glu1516Gly	coding	Benign
9	120409185	C	A	C120409185A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4546G>T:p.Glu1516Ter	coding	Pathogenic
9	120409290	G	A	G120409290A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4441C>T:p.Arg1481Ter	coding	Pathogenic/Likely_pathogenic
9	120409477	T	C	T120409477C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4415-161A>G	noncoding	Benign
9	120415130	G	A	G120415130A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4207C>T:p.Arg1403Ter	coding	Pathogenic
9	120419862	G	A	G120419862A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4103C>T:p.Ser1368Phe	coding	Benign
9	120419924	C	T	C120419924T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4041G>A:p.Leu1347=	coding	Benign/Likely_benign
9	120419961	C	T	C120419961T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4005-1G>A	coding	Pathogenic
9	120419975	T	C	T120419975C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4005-15A>G	noncoding	Pathogenic
9	120422708	T	A	T120422708A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3989A>T:p.Asn1330Ile	coding	Benign
9	120439455	T	C	T120439455C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3666A>G:p.Gln1222=	coding	Benign
9	120440238	T	C	T120440238C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3149-266A>G	noncoding	Benign
9	120443305	G	T	G120443305T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3148+315C>A	noncoding	Benign
9	120443427	C	T	C120443427T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3148+193G>A	noncoding	Benign
9	120443634	C	G	C120443634G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3134G>C:p.Arg1045Thr	coding	Benign/Likely_benign
9	120443703	C	T	C120443703T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3065G>A:p.Gly1022Glu	coding	Benign
9	120447847	C	A	C120447847A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3025+48G>T	noncoding	Benign
9	120448094	T	A	T120448094A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2826A>T:p.Ile942=	coding	Benign/Likely_benign
9	120453650	C	T	C120453650T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2599G>A:p.Gly867Arg	coding	Benign
9	120458531	G	C	G120458531C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2294C>G:p.Pro765Arg	coding	Benign/Likely_benign
9	120458536	G	A	G120458536A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2289C>T:p.His763=	coding	Benign/Likely_benign
9	120458551	A	G	A120458551G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2274T>C:p.Asp758=	coding	Benign/Likely_benign
9	120472144	C	T	C120472144T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1728-266G>A	noncoding	Benign
9	120477365	A	G	A120477365G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1712T>C:p.Leu571Pro	coding	Benign
9	120487327	T	C	T120487327C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1593A>G:p.Gln531=	coding	Benign/Likely_benign
9	120491504	A	C	A120491504C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1312-27T>G	noncoding	Benign
9	120518659	C	T	C120518659T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1093-14G>A	noncoding	Benign/Likely_benign
9	120518672	T	C	T120518672C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1093-27A>G	noncoding	Benign
9	120525314	C	G	C120525314G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1000-236G>C	noncoding	Benign
9	120528758	C	G	C120528758G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.865G>C:p.Glu289Gln	coding	Benign
9	120530103	C	A	C120530103A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.700G>T:p.Glu234Ter	coding	Pathogenic
9	120536465	G	A	G120536465A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.569C>T:p.Ala190Val	coding	Benign
9	120536488	A	C	A120536488C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.546T>G:p.Phe182Leu	coding	Benign
9	120539068	T	G	T120539068G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.480A>C:p.Leu160=	coding	Benign/Likely_benign
9	120539139	C	A	C120539139A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.409G>T:p.Ala137Ser	coding	Benign
9	120545998	T	C	T120545998C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.307-208A>G	noncoding	Benign
9	120550541	C	T	C120550541T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.306+251G>A	noncoding	Benign
9	120550848	G	A	G120550848A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.250C>T:p.Leu84Phe	coding	Pathogenic
9	120550852	A	T	A120550852T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.246T>A:p.Tyr82Ter	coding	Pathogenic
9	120550968	T	C	T120550968C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.196-66A>G	noncoding	Benign
9	120568535	T	C	T120568535C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.128-147A>G	noncoding	Benign
9	120572010	C	T	C120572010T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.91G>A:p.Asp31Asn	coding	Benign
9	120579928	G	A	G120579928A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.51C>T:p.Ser17=	coding	Benign
9	120579981	C	A	C120579981A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.-3G>T	noncoding	Benign
9	120579997	A	G	A120579997G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.-19T>C	noncoding	Benign
9	120580331	G	A	G120580331A	CDK5RAP2	NC_000009.12:g.120580331G>A	noncoding	Benign
9	120909242	G	A	G120909242A	TRAF1	NM_005658.5(TRAF1):c.1020C>T:p.Pro340=	coding	Benign
9	120909335	C	T	C120909335T	TRAF1	NM_005658.5(TRAF1):c.927G>A:p.Leu309=	coding	Benign
9	120953825	T	C	T120953825C	C5	NM_001735.3(C5):c.4806A>G:p.Lys1602=	coding	Benign
9	120962749	G	A	G120962749A	C5	NM_001735.2(C5):c.4426C>T:p.Arg1476Ter	coding	Pathogenic
9	120963648	T	G	T120963648G	C5	NM_001735.3(C5):c.4311A>C:p.Glu1437Asp	coding	Benign
9	120963751	A	G	A120963751G	C5	NM_001735.3(C5):c.4221-13T>C	noncoding	Benign
9	120969130	G	A	G120969130A	C5	NM_001735.3(C5):c.4163-12C>T	noncoding	Benign
9	120974867	C	T	C120974867T	C5	NM_001735.3(C5):c.3929G>A:p.Ser1310Asn	coding	Benign
9	120982646	T	C	T120982646C	C5	NM_001735.3(C5):c.3390+9A>G	noncoding	Benign
9	120982742	A	G	A120982742G	C5	NM_001735.3(C5):c.3303T>C:p.Cys1101=	coding	Benign
9	120989595	G	T	G120989595T	C5	NM_001735.3(C5):c.3127C>A:p.Gln1043Lys	coding	Benign
9	120989596	C	T	C120989596T	C5	NM_001735.3(C5):c.3126G>A:p.Lys1042=	coding	Benign
9	120989624	A	G	A120989624G	C5	NM_001735.3(C5):c.3098T>C:p.Ile1033Thr	coding	Benign
9	120989689	C	G	C120989689G	C5	NM_001735.3(C5):c.3033G>C:p.Glu1011Asp	coding	Benign
9	120997554	C	T	C120997554T	C5	NM_001735.3(C5):c.2783G>A:p.Arg928Gln	coding	Benign
9	121006922	C	T	C121006922T	C5	NM_001735.3(C5):c.2404G>A:p.Val802Ile	coding	Benign
9	121017503	C	T	C121017503T	C5	NM_001735.3(C5):c.1725G>A:p.Leu575=	coding	Benign
9	121017727	G	A	G121017727A	C5	NM_001735.3(C5):c.1632C>T:p.Tyr544=	coding	Benign
9	121017820	G	C	G121017820C	C5	NM_001735.3(C5):c.1539C>G:p.Gly513=	coding	Benign
9	121020000	G	A	G121020000A	C5	NM_001735.3(C5):c.1482C>T:p.Asp494=	coding	Benign
9	121020021	G	A	G121020021A	C5	NM_001735.3(C5):c.1461C>T:p.Thr487=	coding	Benign
9	121020137	T	C	T121020137C	C5	NM_001735.3(C5):c.1345A>G:p.Arg449Gly	coding	Benign
9	121021656	T	C	T121021656C	C5	NM_001735.3(C5):c.1155A>G:p.Gly385=	coding	Benign
9	121023405	T	C	T121023405C	C5	NM_001735.2(C5):c.1115A>G:p.Lys372Arg	coding	Pathogenic
9	121023460	G	T	G121023460T	C5	NM_001735.3(C5):c.1060C>A:p.Leu354Met	coding	Benign
9	121050192	G	A	G121050192A	C5	NM_001317163.2(C5):c.84-3809C>T	coding	Pathogenic
9	121090387	C	T	C121090387T	CNTRL	NM_007018.5(CNTRL):c.330C>T:p.Asp110=	coding	Benign
9	121098418	A	G	A121098418G	CNTRL	NM_007018.5(CNTRL):c.654A>G:p.Gln218=	coding	Benign
9	121118416	G	A	G121118416A	CNTRL	NM_007018.5(CNTRL):c.1526G>A:p.Arg509His	coding	Benign
9	121135981	A	G	A121135981G	CNTRL	NM_007018.5(CNTRL):c.2201A>G:p.Gln734Arg	coding	Benign
9	121142260	T	C	T121142260C	CNTRL	NM_007018.5(CNTRL):c.2861T>C:p.Leu954Ser	coding	Benign
9	121152487	G	T	G121152487T	CNTRL	NM_007018.5(CNTRL):c.3966G>T:p.Glu1322Asp	coding	Benign
9	121152562	A	G	A121152562G	CNTRL	NM_007018.5(CNTRL):c.4041A>G:p.Ala1347=	coding	Benign
9	121157844	A	C	A121157844C	CNTRL	NM_007018.5(CNTRL):c.4601A>C:p.Gln1534Pro	coding	Benign
9	121171515	G	T	G121171515T	CNTRL	NM_007018.5(CNTRL):c.6384G>T:p.Gln2128His	coding	Benign
9	121175188	T	C	T121175188C	CNTRL	NM_007018.5(CNTRL):c.6918T>C:p.Ser2306=	coding	Benign
9	121182941	C	T	C121182941T	RAB14	NM_016322.4(RAB14):c.459G>A:p.Ala153=	coding	Benign
9	121190583	C	T	C121190583T	RAB14	NM_016322.4(RAB14):c.255G>A:p.Ala85=	coding	Benign
9	121299996	C	T	C121299996T	GSN	NM_001127666.2(GSN):c.-47-60C>T	coding	Benign
9	121302000	A	G	A121302000G	GSN	NM_001127666.2(GSN):c.62A>G:p.Lys21Arg	coding	Benign
9	121302046	C	G	C121302046G	GSN	NM_198252.3(GSN):c.75C>G:p.Phe25Leu	coding	Benign
9	121302134	G	A	G121302134A	GSN	NM_001127666.2(GSN):c.196G>A:p.Gly66Arg	coding	Benign
9	121302174	C	T	C121302174T	GSN	NM_001127666.2(GSN):c.229+7C>T	noncoding	Benign
9	121302941	C	T	C121302941T	GSN	NM_198252.3(GSN):c.227C>T:p.Ala76Val	coding	Benign/Likely_benign
9	121302945	C	A	C121302945A	GSN	NM_001127666.2(GSN):c.264C>A:p.Ala88=	coding	Benign
9	121302946	G	A	G121302946A	GSN	NM_001127666.2(GSN):c.265G>A:p.Ala89Thr	coding	Benign
9	121302957	C	T	C121302957T	GSN	NM_001127666.2(GSN):c.276C>T:p.Thr92=	coding	Benign
9	121302985	C	T	C121302985T	GSN	NM_001127666.2(GSN):c.304C>T:p.Arg102Trp	coding	Benign
9	121310714	G	A	G121310714A	GSN	NM_001127666.2(GSN):c.415G>A:p.Val139Met	coding	Benign
9	121310819	G	A	G121310819A	GSN	NM_198252.3(GSN):c.487G>A:p.Asp163Asn	coding	Pathogenic
9	121310819	G	T	G121310819T	GSN	NM_198252.3(GSN):c.487G>T:p.Asp163Tyr	coding	Pathogenic
9	121312363	A	G	A121312363G	GSN	NM_001127666.2(GSN):c.571A>G:p.Asn191Asp	coding	Benign
9	121312372	C	T	C121312372T	GSN	NM_001127666.2(GSN):c.580C>T:p.Arg194Trp	coding	Benign
9	121312422	C	T	C121312422T	GSN	NM_198252.3(GSN):c.597C>T:p.Asn199=	coding	Benign
9	121312456	G	C	G121312456C	GSN	NM_001127666.2(GSN):c.664G>C:p.Glu222Gln	coding	Benign
9	121313930	A	G	A121313930G	GSN	NM_001127666.2(GSN):c.697-4A>G	noncoding	Benign
9	121317075	C	T	C121317075T	GSN	NM_001127666.2(GSN):c.787-11C>T	noncoding	Benign
9	121317118	C	T	C121317118T	GSN	NM_198252.3(GSN):c.786C>T:p.Ser262=	coding	Benign
9	121318698	C	T	C121318698T	GSN	NM_198252.3(GSN):c.1009C>T:p.Leu337=	coding	Benign
9	121318787	G	A	G121318787A	GSN	NM_198252.3(GSN):c.1098G>A:p.Val366=	coding	Benign
9	121318859	C	T	C121318859T	GSN	NM_198252.3(GSN):c.1170C>T:p.Asp390=	coding	Benign/Likely_benign
9	121318860	G	A	G121318860A	GSN	NM_198252.3(GSN):c.1171G>A:p.Asp391Asn	coding	Benign
9	121318884	C	T	C121318884T	GSN	NM_198252.3(GSN):c.1191+4C>T	noncoding	Benign
9	121318894	G	A	G121318894A	GSN	NM_198252.3(GSN):c.1191+14G>A	noncoding	Benign
9	121321301	G	A	G121321301A	GSN	NM_198252.3(GSN):c.1225G>A:p.Val409Met	coding	Benign
9	121321315	A	G	A121321315G	GSN	NM_001127666.2(GSN):c.1272A>G:p.Thr424=	coding	Benign
9	121321336	C	T	C121321336T	GSN	NM_001127666.2(GSN):c.1293C>T:p.Gly431=	coding	Benign
9	121321364	C	T	C121321364T	GSN	NM_001127666.2(GSN):c.1321C>T:p.Arg441Cys	coding	Benign
9	121326516	G	A	G121326516A	GSN	NM_001127666.2(GSN):c.1454G>A:p.Arg485His	coding	Benign
9	121326518	G	T	G121326518T	GSN	NM_001127666.2(GSN):c.1456G>T:p.Val486Leu	coding	Benign
9	121326538	C	T	C121326538T	GSN	NM_001127666.2(GSN):c.1476C>T:p.Pro492=	coding	Benign/Likely_benign
9	121326582	A	G	A121326582G	GSN	NM_001127666.2(GSN):c.1520A>G:p.Tyr507Cys	coding	Benign
9	121326608	G	A	G121326608A	GSN	NM_001127666.2(GSN):c.1546G>A:p.Gly516Arg	coding	Benign
9	121326630	C	G	C121326630G	GSN	NM_001127666.2(GSN):c.1568C>G:p.Thr523Ser	coding	Benign
9	121326650	G	A	G121326650A	GSN	NM_001127666.2(GSN):c.1588G>A:p.Ala530Thr	coding	Benign
9	121326658	C	T	C121326658T	GSN	NM_001127666.2(GSN):c.1596C>T:p.Ser532=	coding	Benign
9	121327383	G	A	G121327383A	GSN	NM_001127666.2(GSN):c.1696G>A:p.Val566Met	coding	Benign
9	121327400	C	T	C121327400T	GSN	NM_001127666.2(GSN):c.1713C>T:p.Ser571=	coding	Benign
9	121327414	C	T	C121327414T	GSN	NM_001127666.2(GSN):c.1727C>T:p.Thr576Met	coding	Benign
9	121327447	C	G	C121327447G	GSN	NM_001127666.2(GSN):c.1760C>G:p.Ala587Gly	coding	Benign
9	121328910	G	A	G121328910A	GSN	NM_001127666.2(GSN):c.1815G>A:p.Leu605=	coding	Benign
9	121328978	G	T	G121328978T	GSN	NM_001127666.2(GSN):c.1883G>T:p.Arg628Leu	coding	Benign
9	121329002	T	C	T121329002C	GSN	NM_001127666.2(GSN):c.1907T>C:p.Ile636Thr	coding	Benign
9	121329281	C	T	C121329281T	GSN	NM_001127666.2(GSN):c.1964C>T:p.Thr655Met	coding	Benign/Likely_benign
9	121332453	G	A	G121332453A	GSN	NM_198252.3(GSN):c.2046G>A:p.Thr682=	coding	Benign
9	121332476	G	A	G121332476A	GSN	NM_001127666.2(GSN):c.2102G>A:p.Arg701Gln	coding	Benign
9	121332522	T	C	T121332522C	GSN	NM_001127666.2(GSN):c.2148T>C:p.Phe716=	coding	Benign
9	121699387	C	T	C121699387T	DAB2IP	NM_032552.3(DAB2IP):c.207C>T:p.Asp69=	coding	Benign
9	121758976	C	A	C121758976A	DAB2IP	NM_032552.3(DAB2IP):c.511C>A:p.Arg171=	coding	Benign
9	121760121	G	A	G121760121A	DAB2IP	NM_032552.3(DAB2IP):c.768G>A:p.Lys256=	coding	Benign
9	121760271	C	T	C121760271T	DAB2IP	NM_032552.3(DAB2IP):c.918C>T:p.Tyr306=	coding	Benign
9	121760370	C	T	C121760370T	DAB2IP	NM_032552.3(DAB2IP):c.1017C>T:p.Leu339=	coding	Benign
9	121763798	C	T	C121763798T	DAB2IP	NM_032552.3(DAB2IP):c.1295C>T:p.Ser432Leu	coding	Benign
9	121772974	G	A	G121772974A	DAB2IP	NM_032552.3(DAB2IP):c.2362G>A:p.Ala788Thr	coding	Benign
9	121773425	G	A	G121773425A	DAB2IP	NM_032552.3(DAB2IP):c.2813G>A:p.Arg938His	coding	Benign
9	122378008	C	T	C122378008T	PTGS1	NM_000962.4(PTGS1):c.204C>T:p.Cys68=	coding	Benign
9	122381757	G	A	G122381757A	PTGS1	NM_000962.4(PTGS1):c.762+10G>A	noncoding	Benign
9	122392241	G	A	G122392241A	PTGS1	NM_000962.4(PTGS1):c.1497G>A:p.Ala499=	coding	Benign
9	122553584	C	T	C122553584T	OR1N2	NM_001004457.2(OR1N2):c.373C>T:p.Arg125Cys	coding	Benign
9	122826662	C	A	C122826662A	PDCL	NM_005388.5(PDCL):c.126G>T:p.Val42=	coding	Benign
9	123356265	C	T	C123356265T	CRB2	NM_173689.7(CRB2):c.5C>T:p.Ala2Val	coding	Benign
9	123362907	C	T	C123362907T	CRB2	NM_173689.7(CRB2):c.137C>T:p.Pro46Leu	coding	Benign
9	123362912	G	A	G123362912A	CRB2	NM_173689.7(CRB2):c.142G>A:p.Ala48Thr	coding	Benign
9	123362975	C	T	C123362975T	CRB2	NM_173689.7(CRB2):c.205C>T:p.Arg69Trp	coding	Benign
9	123363040	C	T	C123363040T	CRB2	NM_173689.7(CRB2):c.270C>T:p.Thr90=	coding	Benign
9	123363048	G	A	G123363048A	CRB2	NM_173689.7(CRB2):c.278G>A:p.Arg93His	coding	Benign
9	123363196	C	T	C123363196T	CRB2	NM_173689.7(CRB2):c.418+8C>T	noncoding	Benign
9	123365966	G	A	G123365966A	CRB2	NM_173689.7(CRB2):c.468G>A:p.Leu156=	coding	Benign
9	123366014	C	T	C123366014T	CRB2	NM_173689.7(CRB2):c.516C>T:p.Cys172=	coding	Benign
9	123366104	G	A	G123366104A	CRB2	NM_173689.7(CRB2):c.606G>A:p.Leu202=	coding	Benign
9	123367300	G	T	G123367300T	CRB2	NM_173689.7(CRB2):c.883G>T:p.Ala295Ser	coding	Benign
9	123370115	A	T	A123370115T	CRB2	NM_173689.7(CRB2):c.1062A>T:p.Thr354=	coding	Benign
9	123370270	C	T	C123370270T	CRB2	NM_173689.7(CRB2):c.1217C>T:p.Pro406Leu	coding	Benign
9	123370289	C	T	C123370289T	CRB2	NM_173689.7(CRB2):c.1236C>T:p.Ile412=	coding	Benign
9	123370481	T	G	T123370481G	CRB2	NM_173689.7(CRB2):c.1428T>G:p.Thr476=	coding	Benign
9	123370517	G	A	G123370517A	CRB2	NM_173689.7(CRB2):c.1464G>A:p.Leu488=	coding	Benign
9	123370881	C	T	C123370881T	CRB2	NM_173689.7(CRB2):c.1828C>T:p.Arg610Trp	coding	Benign
9	123370912	G	C	G123370912C	CRB2	NM_173689.7(CRB2):c.1859G>C:p.Cys620Ser	coding	Pathogenic
9	123370935	C	T	C123370935T	CRB2	NM_173689.7(CRB2):c.1882C>T:p.Arg628Cys	coding	Pathogenic/Likely_pathogenic
9	123370939	G	C	G123370939C	CRB2	NM_173689.7(CRB2):c.1886G>C:p.Cys629Ser	coding	Pathogenic
9	123370950	C	T	C123370950T	CRB2	NM_173689.7(CRB2):c.1897C>T:p.Arg633Trp	coding	Pathogenic
9	123370990	A	T	A123370990T	CRB2	NM_173689.7(CRB2):c.1927+10A>T	noncoding	Benign
9	123371185	C	T	C123371185T	CRB2	NM_173689.7(CRB2):c.2043C>T:p.Ser681=	coding	Benign
9	123371254	G	A	G123371254A	CRB2	NM_173689.7(CRB2):c.2112G>A:p.Arg704=	coding	Benign
9	123371272	G	A	G123371272A	CRB2	NM_173689.7(CRB2):c.2130G>A:p.Pro710=	coding	Benign
9	123371419	G	A	G123371419A	CRB2	NM_173689.7(CRB2):c.2277G>A:p.Trp759Ter	coding	Pathogenic
9	123371518	G	T	G123371518T	CRB2	NM_173689.7(CRB2):c.2376G>T:p.Glu792Asp	coding	Benign
9	123372236	C	A	C123372236A	CRB2	NM_173689.7(CRB2):c.2496C>A:p.Thr832=	coding	Benign
9	123373240	C	T	C123373240T	CRB2	NM_173689.7(CRB2):c.2709C>T:p.Arg903=	coding	Benign
9	123373279	C	T	C123373279T	CRB2	NM_173689.7(CRB2):c.2748C>T:p.Ala916=	coding	Benign
9	123373320	C	T	C123373320T	CRB2	NM_173689.7(CRB2):c.2789C>T:p.Ala930Val	coding	Benign
9	123373720	G	C	G123373720C	CRB2	NM_173689.7(CRB2):c.3189G>C:p.Ser1063=	coding	Benign
9	123373735	C	T	C123373735T	CRB2	NM_173689.7(CRB2):c.3204C>T:p.Asp1068=	coding	Benign
9	123373856	C	G	C123373856G	CRB2	NM_173689.7(CRB2):c.3325C>G:p.His1109Asp	coding	Benign
9	123374655	G	A	G123374655A	CRB2	NM_173689.7(CRB2):c.3466G>A:p.Ala1156Thr	coding	Benign
9	123374660	C	T	C123374660T	CRB2	NM_173689.7(CRB2):c.3471C>T:p.Ala1157=	coding	Benign
9	123376942	G	C	G123376942C	CRB2	NM_173689.7(CRB2):c.3738G>C:p.Leu1246=	coding	Benign
9	123376950	G	A	G123376950A	CRB2	NM_173689.7(CRB2):c.3746G>A:p.Arg1249Gln	coding	Benign
9	123382480	G	A	G123382480A	DENND1A	NM_020946.1(DENND1A):c.1982C>T:p.Ser661Leu	coding	Benign
9	124021136	C	T	C124021136T	LHX2	NM_004789.4(LHX2):c.765C>T:p.Asp255=	coding	Benign
9	124313961	T	C	T124313961C	NEK6	NM_001145001.2(NEK6):c.372T>C:p.Cys124=	coding	Benign
9	124481358	A	G	A124481358G	NR5A1	NM_004959.5(NR5A1):c.*1400T>C	noncoding	Benign
9	124482676	G	A	G124482676A	NR5A1	NM_004959.5(NR5A1):c.*82C>T	noncoding	Benign
9	124482791	C	T	C124482791T	NR5A1	NM_004959.5(NR5A1):c.1353G>A:p.Leu451=	coding	Benign
9	124482834	A	T	A124482834T	NR5A1	NM_004959.5(NR5A1):c.1310T>A:p.Leu437Gln	coding	Pathogenic
9	124482934	A	C	A124482934C	NR5A1	NM_004959.5(NR5A1):c.1210T>G:p.Tyr404Asp	coding	Pathogenic
9	124493078	C	T	C124493078T	NR5A1	NM_004959.5(NR5A1):c.942G>A:p.Gln314=	coding	Benign
9	124493082	C	T	C124493082T	NR5A1	NM_004959.5(NR5A1):c.938G>A:p.Arg313His	coding	Pathogenic
9	124493083	G	A	G124493083A	NR5A1	NM_004959.5(NR5A1):c.937C>T:p.Arg313Cys	coding	Pathogenic/Likely_pathogenic
9	124493143	C	T	C124493143T	NR5A1	NM_004959.5(NR5A1):c.877G>A:p.Asp293Asn	coding	Pathogenic
9	124500196	C	A	C124500196A	NR5A1	NM_004959.5(NR5A1):c.764G>T:p.Arg255Leu	coding	Pathogenic
9	124500326	C	T	C124500326T	NR5A1	NM_004959.5(NR5A1):c.634G>A:p.Gly212Ser	coding	Pathogenic
9	124500366	C	T	C124500366T	NR5A1	NM_004959.5(NR5A1):c.594G>A:p.Pro198=	coding	Benign
9	124500444	G	A	G124500444A	NR5A1	NM_004959.5(NR5A1):c.516C>T:p.Ala172=	coding	Benign
9	124500498	G	A	G124500498A	NR5A1	NM_004959.5(NR5A1):c.462C>T:p.Ala154=	coding	Benign
9	124500523	C	G	C124500523G	NR5A1	NM_004959.5(NR5A1):c.437G>C:p.Gly146Ala	coding	Benign
9	124500568	G	A	G124500568A	NR5A1	NM_004959.5(NR5A1):c.392C>T:p.Pro131Leu	coding	Pathogenic
9	124500585	C	T	C124500585T	NR5A1	NM_004959.5(NR5A1):c.375G>A:p.Pro125=	coding	Benign
9	124500626	G	A	G124500626A	NR5A1	NM_004959.5(NR5A1):c.334C>T:p.Gln112Ter	coding	Pathogenic
9	124500685	C	T	C124500685T	NR5A1	NM_004959.5(NR5A1):c.275G>A:p.Arg92Gln	coding	Pathogenic
9	124500689	C	T	C124500689T	NR5A1	NM_004959.5(NR5A1):c.271G>A:p.Gly91Ser	coding	Pathogenic
9	124503089	C	T	C124503089T	NR5A1	NM_004959.5(NR5A1):c.234G>A:p.Met78Ile	coding	Pathogenic
9	124503098	C	G	C124503098G	NR5A1	NM_004959.5(NR5A1):c.225G>C:p.Thr75=	coding	Benign
9	124503172	C	A	C124503172A	NR5A1	NM_004959.5(NR5A1):c.151G>T:p.Glu51Ter	coding	Pathogenic
9	124503348	G	T	G124503348T	NR5A1	NM_004959.5(NR5A1):c.48C>A:p.Cys16Ter	coding	Pathogenic
9	124503353	C	T	C124503353T	NR5A1	NM_004959.5(NR5A1):c.43G>A:p.Val15Met	coding	Pathogenic
9	124503393	C	T	C124503393T	NR5A1	NM_004959.5(NR5A1):c.3G>A:p.Met1Ile	coding	Pathogenic
9	124522721	C	T	C124522721T	NR6A1	NM_033334.4(NR6A1):c.1427G>A:p.Ser476Asn	coding	Benign
9	124526885	C	G	C124526885G	NR6A1	NM_033334.4(NR6A1):c.1095G>C:p.Gly365=	coding	Benign
9	124536084	G	A	G124536084A	NR6A1	NM_033334.4(NR6A1):c.873C>T:p.Ala291=	coding	Benign
9	124857945	C	T	C124857945T	RPL35	NM_007209.4(RPL35):c.345G>A:p.Pro115=	coding	Benign
9	124858059	C	G	C124858059G	RPL35	NM_007209.4(RPL35):c.231G>C:p.Lys77Asn	coding	Pathogenic
9	124858077	A	G	A124858077G	RPL35	NM_007209.4(RPL35):c.223-10T>C	noncoding	Benign
9	124888352	A	C	A124888352C	GOLGA1	NM_002077.4(GOLGA1):c.1806T>G:p.Thr602=	coding	Benign
9	124889170	G	A	G124889170A	GOLGA1	NM_002077.4(GOLGA1):c.1734C>T:p.Ala578=	coding	Benign
9	124890381	G	C	G124890381C	GOLGA1	NM_002077.4(GOLGA1):c.1497+8C>G	noncoding	Benign
9	125153593	A	G	A125153593G	PPP6C	NM_002721.5(PPP6C):c.609T>C:p.Asp203=	coding	Benign
9	125236755	T	A	T125236755A	HSPA5	NM_005347.5(HSPA5):c.1802A>T:p.Lys601Met	coding	Benign
9	125236887	T	C	T125236887C	HSPA5	NM_005347.5(HSPA5):c.1670A>G:p.Glu557Gly	coding	Benign
9	125236970	G	A	G125236970A	HSPA5	NM_005347.5(HSPA5):c.1587C>T:p.Asp529=	coding	Benign
9	125302647	G	A	G125302647A	GAPVD1	NM_001282680.3(GAPVD1):c.850G>A:p.Val284Met	coding	Benign
9	125307821	A	G	A125307821G	GAPVD1	NM_001282680.3(GAPVD1):c.1382A>G:p.Asn461Ser	coding	Benign
9	125323933	A	G	A125323933G	GAPVD1	NM_001282680.3(GAPVD1):c.1858+10A>G	noncoding	Benign
9	125341197	C	T	C125341197T	GAPVD1	NM_001282680.3(GAPVD1):c.2898C>T:p.Ser966=	coding	Benign
9	125438992	C	T	C125438992T	MAPKAP1	NM_001006617.3(MAPKAP1):c.1464G>A:p.Ser488=	coding	Benign
9	125444576	C	T	C125444576T	MAPKAP1	NM_001006617.3(MAPKAP1):c.1368G>A:p.Thr456=	coding	Benign
9	125543111	C	T	C125543111T	MAPKAP1	NM_001006617.3(MAPKAP1):c.906G>A:p.Lys302=	coding	Benign
9	126503221	C	T	C126503221T	MVB12B	NM_033446.3(MVB12B):c.918C>T:p.Leu306=	coding	Benign
9	126615379	A	G	A126615379G	LMX1B	NM_001174147.2(LMX1B):c.140-4A>G	noncoding	Benign
9	126615412	G	T	G126615412T	LMX1B	NM_001174147.2(LMX1B):c.169G>T:p.Glu57Ter	coding	Pathogenic
9	126615419	G	T	G126615419T	LMX1B	NM_002316.3(LMX1B):c.176G>T:p.Cys59Phe	coding	Pathogenic
9	126615470	G	A	G126615470A	LMX1B	NM_002316.3(LMX1B):c.227G>A:p.Trp76Ter	coding	Pathogenic
9	126615478	G	T	G126615478T	LMX1B	NM_001174147.2(LMX1B):c.235G>T:p.Glu79Ter	coding	Pathogenic
9	126615487	C	T	C126615487T	LMX1B	NM_002316.3(LMX1B):c.244C>T:p.Gln82Ter	coding	Pathogenic
9	126615548	A	G	A126615548G	LMX1B	NM_001174146.1(LMX1B):c.305A>G:p.Tyr102Cys	coding	Pathogenic
9	126615549	C	G	C126615549G	LMX1B	NM_001174146.1(LMX1B):c.306C>G:p.Tyr102Ter	coding	Pathogenic
9	126615576	G	C	G126615576C	LMX1B	NM_002316.3(LMX1B):c.326+7G>C	noncoding	Benign
9	126690862	G	T	G126690862T	LMX1B	NM_002316.3(LMX1B):c.353G>T:p.Cys118Phe	coding	Pathogenic
9	126690941	C	T	C126690941T	LMX1B	NM_002316.3(LMX1B):c.432C>T:p.Cys144=	coding	Benign/Likely_benign
9	126690950	A	G	A126690950G	LMX1B	NM_002316.3(LMX1B):c.441A>G:p.Glu147=	coding	Benign
9	126691043	C	A	C126691043A	LMX1B	NM_001174147.2(LMX1B):c.534C>A:p.Ser178=	coding	Benign
9	126691061	C	T	C126691061T	LMX1B	NM_002316.3(LMX1B):c.552C>T:p.Ser184=	coding	Benign
9	126691088	G	A	G126691088A	LMX1B	NM_002316.3(LMX1B):c.559+20G>A	noncoding	Benign
9	126693123	C	T	C126693123T	LMX1B	NM_002316.3(LMX1B):c.560-19C>T	noncoding	Benign
9	126693210	G	A	G126693210A	LMX1B	NM_002316.3(LMX1B):c.628G>A:p.Gly210Arg	coding	Benign
9	126693243	C	T	C126693243T	LMX1B	NM_002316.3(LMX1B):c.661C>T:p.Arg221Ter	coding	Pathogenic
9	126693250	G	A	G126693250A	LMX1B	NM_002316.3(LMX1B):c.668G>A:p.Arg223Gln	coding	Pathogenic
9	126693273	C	T	C126693273T	LMX1B	NM_002316.3(LMX1B):c.691C>T:p.Arg231Ter	coding	Pathogenic
9	126693288	G	C	G126693288C	LMX1B	NM_001174147.2(LMX1B):c.706G>C:p.Ala236Pro	coding	Pathogenic
9	126693291	T	C	T126693291C	LMX1B	NM_001174147.2(LMX1B):c.709T>C:p.Ser237Pro	coding	Pathogenic
9	126693308	G	C	G126693308C	LMX1B	NM_002316.3(LMX1B):c.726G>C:p.Ser242=	coding	Benign
9	126693318	C	T	C126693318T	LMX1B	NM_002316.3(LMX1B):c.736C>T:p.Arg246Ter	coding	Pathogenic
9	126693319	G	A	G126693319A	LMX1B	NM_002316.3(LMX1B):c.737G>A:p.Arg246Gln	coding	Pathogenic
9	126693324	G	T	G126693324T	LMX1B	NM_002316.3(LMX1B):c.741+1G>T	coding	Pathogenic
9	126693527	C	T	C126693527T	LMX1B	NM_002316.3(LMX1B):c.745C>T:p.Arg249Ter	coding	Pathogenic
9	126693528	G	C	G126693528C	LMX1B	NM_001174147.2(LMX1B):c.746G>C:p.Arg249Pro	coding	Pathogenic
9	126693563	C	T	C126693563T	LMX1B	NM_002316.3(LMX1B):c.781C>T:p.Arg261Cys	coding	Pathogenic
9	126693575	G	C	G126693575C	LMX1B	NM_001174147.2(LMX1B):c.793G>C:p.Val265Leu	coding	Pathogenic
9	126693575	G	T	G126693575T	LMX1B	NM_001174147.2(LMX1B):c.793G>T:p.Val265Phe	coding	Pathogenic
9	126693589	C	A	C126693589A	LMX1B	NM_002316.3(LMX1B):c.807C>A:p.Asn269Lys	coding	Pathogenic
9	126693602	G	A	G126693602A	LMX1B	NM_001174147.2(LMX1B):c.819+1G>A	coding	Pathogenic
9	126693830	C	T	C126693830T	LMX1B	NM_002316.3(LMX1B):c.886+18C>T	coding	Benign
9	126695882	G	A	G126695882A	LMX1B	NM_002316.3(LMX1B):c.930G>A:p.Thr310=	coding	Benign
9	126696301	C	T	C126696301T	LMX1B	NM_001174147.2(LMX1B):c.1059C>T:p.Asp353=	coding	Benign
9	126696349	C	T	C126696349T	LMX1B	NM_002316.3(LMX1B):c.1086C>T:p.Ser362=	coding	Benign
9	126696442	C	T	C126696442T	LMX1B	NM_001174147.2(LMX1B):c.1200C>T:p.Phe400=	coding	Benign
9	126696478	G	A	G126696478A	LMX1B	NM_002316.3(LMX1B):c.*27G>A	noncoding	Benign
9	126696502	A	G	A126696502G	LMX1B	NM_002316.3(LMX1B):c.*51A>G	noncoding	Benign
9	126696530	G	A	G126696530A	LMX1B	NM_002316.3(LMX1B):c.*79G>A	noncoding	Benign
9	126696578	C	T	C126696578T	LMX1B	NM_002316.3(LMX1B):c.*127C>T	noncoding	Benign
9	126696606	G	A	G126696606A	LMX1B	NM_001174147.2(LMX1B):c.*155G>A	noncoding	Benign
9	126696623	C	A	C126696623A	LMX1B	NM_002316.3(LMX1B):c.*172C>A	noncoding	Benign
9	126696624	G	A	G126696624A	LMX1B	NM_002316.3(LMX1B):c.*173G>A	noncoding	Benign
9	126696731	G	A	G126696731A	LMX1B	NM_002316.3(LMX1B):c.*280G>A	noncoding	Benign
9	126696889	G	C	G126696889C	LMX1B	NM_002316.3(LMX1B):c.*438G>C	noncoding	Benign
9	126696902	C	T	C126696902T	LMX1B	NM_002316.3(LMX1B):c.*451C>T	noncoding	Benign
9	126696966	A	G	A126696966G	LMX1B	NM_002316.3(LMX1B):c.*515A>G	noncoding	Benign
9	126697035	C	T	C126697035T	LMX1B	NM_002316.3(LMX1B):c.*584C>T	noncoding	Benign
9	126697159	G	A	G126697159A	LMX1B	NM_002316.3(LMX1B):c.*708G>A	noncoding	Benign
9	126697199	C	T	C126697199T	LMX1B	NM_002316.3(LMX1B):c.*748C>T	noncoding	Benign
9	126697335	G	A	G126697335A	LMX1B	NM_001174147.2(LMX1B):c.*884G>A	noncoding	Benign
9	126697349	C	T	C126697349T	LMX1B	NM_002316.3(LMX1B):c.*898C>T	noncoding	Benign
9	126697383	G	T	G126697383T	LMX1B	NM_002316.3(LMX1B):c.*932G>T	noncoding	Benign
9	126697514	T	A	T126697514A	LMX1B	NM_002316.3(LMX1B):c.*1063T>A	noncoding	Benign
9	126697706	A	G	A126697706G	LMX1B	NM_002316.3(LMX1B):c.*1255A>G	noncoding	Benign
9	126697738	A	T	A126697738T	LMX1B	NM_001174147.2(LMX1B):c.*1287A>T	noncoding	Benign
9	126697755	G	A	G126697755A	LMX1B	NM_002316.3(LMX1B):c.*1304G>A	noncoding	Benign
9	126697840	T	G	T126697840G	LMX1B	NM_002316.3(LMX1B):c.*1389T>G	noncoding	Benign
9	126697844	G	T	G126697844T	LMX1B	NM_002316.3(LMX1B):c.*1393G>T	noncoding	Benign
9	126697924	G	A	G126697924A	LMX1B	NM_002316.3(LMX1B):c.*1473G>A	noncoding	Benign
9	126697989	C	G	C126697989G	LMX1B	NM_002316.3(LMX1B):c.*1538C>G	noncoding	Benign
9	126698025	G	T	G126698025T	LMX1B	NM_002316.3(LMX1B):c.*1574G>T	noncoding	Benign
9	126698033	A	G	A126698033G	LMX1B	NM_002316.3(LMX1B):c.*1582A>G	noncoding	Benign
9	126698055	A	G	A126698055G	LMX1B	NM_002316.3(LMX1B):c.*1604A>G	noncoding	Benign
9	126698095	C	G	C126698095G	LMX1B	NM_002316.3(LMX1B):c.*1644C>G	noncoding	Benign
9	126698117	C	T	C126698117T	LMX1B	NM_002316.3(LMX1B):c.*1666C>T	noncoding	Benign
9	126698124	C	G	C126698124G	LMX1B	NM_002316.3(LMX1B):c.*1673C>G	noncoding	Benign
9	126698154	C	T	C126698154T	LMX1B	NM_001174147.2(LMX1B):c.*1703C>T	noncoding	Benign
9	126698167	A	G	A126698167G	LMX1B	NM_002316.3(LMX1B):c.*1716A>G	noncoding	Benign
9	126698443	T	C	T126698443C	LMX1B	NM_002316.3(LMX1B):c.*1992T>C	noncoding	Benign
9	126698446	C	G	C126698446G	LMX1B	NM_002316.3(LMX1B):c.*1995C>G	noncoding	Benign
9	126698448	G	A	G126698448A	LMX1B	NM_002316.3(LMX1B):c.*1997G>A	noncoding	Benign
9	126698611	C	T	C126698611T	LMX1B	NM_002316.3(LMX1B):c.*2160C>T	noncoding	Benign
9	126698635	A	G	A126698635G	LMX1B	NM_002316.3(LMX1B):c.*2184A>G	noncoding	Benign
9	126698796	G	A	G126698796A	LMX1B	NM_002316.3(LMX1B):c.*2345G>A	noncoding	Benign
9	126698844	T	C	T126698844C	LMX1B	NM_002316.3(LMX1B):c.*2393T>C	noncoding	Benign
9	126698845	G	C	G126698845C	LMX1B	NM_002316.3(LMX1B):c.*2394G>C	noncoding	Benign
9	126699282	C	T	C126699282T	LMX1B	NM_002316.3(LMX1B):c.*2831C>T	noncoding	Benign
9	126699417	G	A	G126699417A	LMX1B	NM_002316.3(LMX1B):c.*2966G>A	noncoding	Benign
9	126699435	C	T	C126699435T	LMX1B	NM_002316.3(LMX1B):c.*2984C>T	noncoding	Benign
9	126699633	A	G	A126699633G	LMX1B	NM_002316.3(LMX1B):c.*3182A>G	noncoding	Benign
9	126699789	C	G	C126699789G	LMX1B	NM_002316.3(LMX1B):c.*3338C>G	noncoding	Benign
9	126699793	T	C	T126699793C	LMX1B	NM_002316.3(LMX1B):c.*3342T>C	noncoding	Benign
9	126699797	G	A	G126699797A	LMX1B	NM_002316.3(LMX1B):c.*3346G>A	noncoding	Benign
9	126700167	C	G	C126700167G	LMX1B	NM_002316.3(LMX1B):c.*3716C>G	noncoding	Benign
9	126700222	G	T	G126700222T	LMX1B	NM_002316.3(LMX1B):c.*3771G>T	noncoding	Benign
9	126700284	A	G	A126700284G	LMX1B	NM_002316.3(LMX1B):c.*3833A>G	noncoding	Benign
9	126700315	T	C	T126700315C	LMX1B	NM_002316.3(LMX1B):c.*3864T>C	noncoding	Benign
9	126700316	G	A	G126700316A	LMX1B	NM_001174147.2(LMX1B):c.*3865G>A	noncoding	Benign
9	126700332	G	T	G126700332T	LMX1B	NM_002316.3(LMX1B):c.*3881G>T	noncoding	Benign
9	126700408	C	A	C126700408A	LMX1B	NM_002316.3(LMX1B):c.*3957C>A	noncoding	Benign
9	126700463	C	T	C126700463T	LMX1B	NM_002316.3(LMX1B):c.*4012C>T	noncoding	Benign
9	126700578	C	T	C126700578T	LMX1B	NM_002316.3(LMX1B):c.*4127C>T	noncoding	Benign
9	126700622	T	C	T126700622C	LMX1B	NM_002316.3(LMX1B):c.*4171T>C	noncoding	Benign
9	126700739	G	A	G126700739A	LMX1B	NM_002316.3(LMX1B):c.*4288G>A	noncoding	Benign
9	126700824	A	G	A126700824G	LMX1B	NM_002316.3(LMX1B):c.*4373A>G	noncoding	Benign
9	127451542	C	T	C127451542T	LRSAM1	NM_138361.5(LRSAM1):c.-575C>T	noncoding	Benign
9	127452135	C	T	C127452135T	LRSAM1	NM_138361.5(LRSAM1):c.-33+51C>T	noncoding	Benign
9	127454672	G	T	G127454672T	LRSAM1	NM_138361.5(LRSAM1):c.72+73G>T	noncoding	Benign
9	127454771	C	G	C127454771G	LRSAM1	NM_138361.5(LRSAM1):c.72+172C>G	noncoding	Benign
9	127457130	G	T	G127457130T	LRSAM1	NM_138361.5(LRSAM1):c.175-186G>T	noncoding	Benign
9	127457390	C	T	C127457390T	LRSAM1	NM_138361.5(LRSAM1):c.249C>T:p.Ile83=	coding	Benign
9	127457464	T	C	T127457464C	LRSAM1	NM_138361.5(LRSAM1):c.252+71T>C	noncoding	Benign
9	127459109	T	C	T127459109C	LRSAM1	NM_138361.5(LRSAM1):c.321+38T>C	noncoding	Benign
9	127461201	T	C	T127461201C	LRSAM1	NM_138361.5(LRSAM1):c.350T>C:p.Met117Thr	coding	Benign
9	127461475	G	A	G127461475A	LRSAM1	NM_138361.5(LRSAM1):c.406+218G>A	noncoding	Benign
9	127462325	C	T	C127462325T	LRSAM1	NM_138361.5(LRSAM1):c.480C>T:p.Asn160=	coding	Benign/Likely_benign
9	127467759	C	T	C127467759T	LRSAM1	NM_138361.5(LRSAM1):c.548C>T:p.Ser183Leu	coding	Benign
9	127467843	C	T	C127467843T	LRSAM1	NM_138361.5(LRSAM1):c.619+13C>T	noncoding	Benign/Likely_benign
9	127473618	G	A	G127473618A	LRSAM1	NM_138361.5(LRSAM1):c.620-183G>A	noncoding	Benign
9	127473817	C	G	C127473817G	LRSAM1	NM_138361.5(LRSAM1):c.636C>G:p.Tyr212Ter	coding	Pathogenic
9	127473964	G	A	G127473964A	LRSAM1	NM_138361.5(LRSAM1):c.750+33G>A	noncoding	Benign
9	127478701	A	G	A127478701G	LRSAM1	NM_138361.5(LRSAM1):c.751-233A>G	noncoding	Benign
9	127478926	C	G	C127478926G	LRSAM1	NM_138361.5(LRSAM1):c.751-8C>G	noncoding	Benign/Likely_benign
9	127479448	C	G	C127479448G	LRSAM1	NM_138361.5(LRSAM1):c.846C>G:p.Thr282=	coding	Benign/Likely_benign
9	127479543	T	C	T127479543C	LRSAM1	NM_138361.5(LRSAM1):c.903+38T>C	noncoding	Benign
9	127479830	C	T	C127479830T	LRSAM1	NM_138361.5(LRSAM1):c.904-9C>T	noncoding	Benign
9	127479887	A	G	A127479887G	LRSAM1	NM_138361.5(LRSAM1):c.952A>G:p.Asn318Asp	coding	Benign
9	127481174	T	C	T127481174C	LRSAM1	NM_138361.5(LRSAM1):c.1044-9T>C	noncoding	Benign
9	127482992	T	A	T127482992A	LRSAM1	NM_138361.5(LRSAM1):c.1131T>A:p.Thr377=	coding	Benign
9	127483266	G	C	G127483266C	LRSAM1	NM_138361.5(LRSAM1):c.1159+246G>C	noncoding	Benign
9	127486087	T	A	T127486087A	LRSAM1	NM_138361.5(LRSAM1):c.1259+252T>A	noncoding	Benign
9	127487695	C	T	C127487695T	LRSAM1	NM_138361.5(LRSAM1):c.1279C>T:p.Arg427Ter	coding	Pathogenic
9	127489233	G	A	G127489233A	LRSAM1	NM_138361.5(LRSAM1):c.1348-211G>A	noncoding	Benign
9	127489336	C	A	C127489336A	LRSAM1	NM_138361.5(LRSAM1):c.1348-108C>A	noncoding	Benign
9	127489449	G	A	G127489449A	LRSAM1	NM_138361.5(LRSAM1):c.1353G>A:p.Ala451=	coding	Benign/Likely_benign
9	127489464	G	A	G127489464A	LRSAM1	NM_138361.5(LRSAM1):c.1368G>A:p.Ala456=	coding	Benign
9	127491511	C	T	C127491511T	LRSAM1	NM_138361.5(LRSAM1):c.1503+216C>T	noncoding	Benign
9	127495881	A	T	A127495881T	LRSAM1	NM_138361.5(LRSAM1):c.1699-83A>T	noncoding	Benign
9	127496101	C	T	C127496101T	LRSAM1	NM_138361.5(LRSAM1):c.1830+6C>T	noncoding	Benign
9	127497339	A	C	A127497339C	LRSAM1	NM_138361.5(LRSAM1):c.1912+5A>C	noncoding	Benign
9	127497377	G	A	G127497377A	LRSAM1	NM_138361.5(LRSAM1):c.1912+43G>A	noncoding	Benign
9	127500761	C	T	C127500761T	LRSAM1	NM_138361.5(LRSAM1):c.1913-249C>T	noncoding	Benign
9	127500821	G	A	G127500821A	LRSAM1	NM_138361.5(LRSAM1):c.1913-189G>A	noncoding	Benign
9	127501009	G	A	G127501009A	LRSAM1	NM_138361.5(LRSAM1):c.1913-1G>A	noncoding	Pathogenic
9	127501011	G	A	G127501011A	LRSAM1	NM_138361.5(LRSAM1):c.1914G>A:p.Glu638=	coding	Pathogenic
9	127501071	T	C	T127501071C	LRSAM1	NM_138361.5(LRSAM1):c.1974T>C:p.Ser658=	coding	Benign/Likely_benign
9	127501072	G	A	G127501072A	LRSAM1	NM_138361.5(LRSAM1):c.1975G>A:p.Val659Met	coding	Benign
9	127501175	C	T	C127501175T	LRSAM1	NM_138361.5(LRSAM1):c.2046+32C>T	noncoding	Benign
9	127502735	C	T	C127502735T	LRSAM1	NM_138361.5(LRSAM1):c.2047-39C>T	noncoding	Benign
9	127502795	T	C	T127502795C	LRSAM1	NM_138361.5(LRSAM1):c.2068T>C:p.Cys690Arg	coding	Pathogenic/Likely_pathogenic
9	127502807	T	C	T127502807C	LRSAM1	NM_138361.5(LRSAM1):c.2080T>C:p.Cys694Arg	coding	Pathogenic
9	127502808	G	A	G127502808A	LRSAM1	NM_138361.5(LRSAM1):c.2081G>A:p.Cys694Tyr	coding	Pathogenic
9	127502848	G	A	G127502848A	LRSAM1	NM_138361.5(LRSAM1):c.2121G>A:p.Pro707=	coding	Benign
9	127502884	C	T	C127502884T	LRSAM1	NM_138361.5(LRSAM1):c.2157C>T:p.Ile719=	coding	Benign
9	127502956	G	A	G127502956A	LRSAM1	NM_138361.5(LRSAM1):c.*57G>A	noncoding	Benign
9	127612409	C	A	C127612409A	STXBP1	NM_003165.4(STXBP1):c.6C>A:p.Ala2=	coding	Benign/Likely_benign
9	127612409	C	T	C127612409T	STXBP1	NM_003165.4(STXBP1):c.6C>T:p.Ala2=	coding	Benign/Likely_benign
9	127612428	G	A	G127612428A	STXBP1	NM_003165.4(STXBP1):c.25G>A:p.Val9Ile	coding	Benign
9	127651600	T	C	T127651600C	STXBP1	NM_003165.4(STXBP1):c.38-3T>C	noncoding	Benign
9	127651644	G	T	G127651644T	STXBP1	NM_003165.4(STXBP1):c.79G>T:p.Glu27Ter	coding	Pathogenic
9	127651649	G	A	G127651649A	STXBP1	NM_003165.4(STXBP1):c.84G>A:p.Trp28Ter	coding	Pathogenic
9	127651653	G	A	G127651653A	STXBP1	NM_003165.4(STXBP1):c.87+1G>A	coding	Pathogenic/Likely_pathogenic
9	127651654	T	C	T127651654C	STXBP1	NM_001032221.4(STXBP1):c.87+2T>C	noncoding	Pathogenic
9	127653713	A	C	A127653713C	STXBP1	NM_003165.4(STXBP1):c.88-2A>C	noncoding	Pathogenic
9	127653713	A	G	A127653713G	STXBP1	NM_003165.4(STXBP1):c.88-2A>G	noncoding	Pathogenic
9	127653734	T	G	T127653734G	STXBP1	NM_003165.4(STXBP1):c.107T>G:p.Leu36Ter	coding	Pathogenic
9	127653784	G	T	G127653784T	STXBP1	NM_001032221.6(STXBP1):c.157G>T:p.Glu53Ter	coding	Pathogenic
9	127653797	G	A	G127653797A	STXBP1	NM_003165.4(STXBP1):c.169+1G>A	coding	Pathogenic
9	127653937	G	C	G127653937C	STXBP1	NM_003165.4(STXBP1):c.169+141G>C	noncoding	Benign
9	127658366	G	T	G127658366T	STXBP1	NM_003165.4(STXBP1):c.170-9G>T	noncoding	Benign/Likely_benign
9	127658373	A	G	A127658373G	STXBP1	NM_003165.4(STXBP1):c.170-2A>G	noncoding	Pathogenic
9	127658374	G	C	G127658374C	STXBP1	NM_001032221.6(STXBP1):c.170-1G>C	noncoding	Pathogenic
9	127658446	G	T	G127658446T	STXBP1	NM_001032221.6(STXBP1):c.241G>T:p.Glu81Ter	coding	Pathogenic
9	127658466	A	G	A127658466G	STXBP1	NM_003165.4(STXBP1):c.246+15A>G	noncoding	Benign
9	127658534	G	T	G127658534T	STXBP1	NM_003165.4(STXBP1):c.246+83G>T	noncoding	Benign
9	127659849	G	A	G127659849A	STXBP1	NM_003165.4(STXBP1):c.247-181G>A	noncoding	Benign
9	127660022	A	G	A127660022G	STXBP1	NM_003165.4(STXBP1):c.247-8A>G	noncoding	Benign/Likely_benign
9	127660029	G	A	G127660029A	STXBP1	NM_001032221.6(STXBP1):c.247-1G>A	noncoding	Pathogenic
9	127660034	T	A	T127660034A	STXBP1	NM_003165.4(STXBP1):c.251T>A:p.Val84Asp	coding	Pathogenic
9	127660051	G	C	G127660051C	STXBP1	NM_001032221.6(STXBP1):c.268G>C:p.Asp90His	coding	Pathogenic
9	127660064	C	T	C127660064T	STXBP1	NM_003165.4(STXBP1):c.281C>T:p.Pro94Leu	coding	Benign/Likely_benign
9	127660085	C	T	C127660085T	STXBP1	NM_001032221.6(STXBP1):c.302C>T:p.Ala101Val	coding	Benign
9	127660116	C	T	C127660116T	STXBP1	NM_003165.4(STXBP1):c.325+8C>T	noncoding	Benign/Likely_benign
9	127661094	A	G	A127661094G	STXBP1	NM_003165.4(STXBP1):c.326-8A>G	noncoding	Benign
9	127661101	G	T	G127661101T	STXBP1	NM_003165.4(STXBP1):c.326-1G>T	noncoding	Pathogenic/Likely_pathogenic
9	127661140	C	T	C127661140T	STXBP1	NM_003165.4(STXBP1):c.364C>T:p.Arg122Ter	coding	Pathogenic
9	127661192	C	A	C127661192A	STXBP1	NM_001032221.6(STXBP1):c.416C>A:p.Pro139Gln	coding	Pathogenic
9	127661192	C	T	C127661192T	STXBP1	NM_003165.4(STXBP1):c.416C>T:p.Pro139Leu	coding	Pathogenic/Likely_pathogenic
9	127661196	T	A	T127661196A	STXBP1	NM_003165.4(STXBP1):c.420T>A:p.Tyr140Ter	coding	Pathogenic
9	127663196	C	T	C127663196T	STXBP1	NM_003165.4(STXBP1):c.430-9C>T	noncoding	Benign/Likely_benign
9	127663204	G	A	G127663204A	STXBP1	NM_001032221.6(STXBP1):c.430-1G>A	noncoding	Pathogenic
9	127663204	G	T	G127663204T	STXBP1	NM_003165.4(STXBP1):c.430-1G>T	noncoding	Pathogenic
9	127663253	C	A	C127663253A	STXBP1	NM_001032221.6(STXBP1):c.478C>A:p.His160Asn	coding	Benign
9	127663314	G	A	G127663314A	STXBP1	NM_003165.4(STXBP1):c.539G>A:p.Cys180Tyr	coding	Pathogenic
9	127663343	C	T	C127663343T	STXBP1	NM_003165.4(STXBP1):c.568C>T:p.Arg190Trp	coding	Pathogenic
9	127663344	G	A	G127663344A	STXBP1	NM_003165.4(STXBP1):c.569G>A:p.Arg190Gln	coding	Pathogenic
9	127663353	G	T	G127663353T	STXBP1	NM_003165.4(STXBP1):c.578G>T:p.Gly193Val	coding	Pathogenic
9	127663354	G	A	G127663354A	STXBP1	NM_003165.4(STXBP1):c.578+1G>A	coding	Pathogenic
9	127663354	G	T	G127663354T	STXBP1	NM_003165.4(STXBP1):c.578+1G>T	coding	Pathogenic
9	127665135	A	G	A127665135G	STXBP1	NM_003165.4(STXBP1):c.579-112A>G	noncoding	Benign
9	127665210	C	G	C127665210G	STXBP1	NM_003165.4(STXBP1):c.579-37C>G	noncoding	Benign
9	127665245	A	G	A127665245G	STXBP1	NM_003165.4(STXBP1):c.579-2A>G	noncoding	Pathogenic
9	127665246	G	A	G127665246A	STXBP1	NM_001032221.6(STXBP1):c.579-1G>A	noncoding	Pathogenic
9	127665254	A	T	A127665254T	STXBP1	NM_003165.4(STXBP1):c.586A>T:p.Lys196Ter	coding	Pathogenic
9	127665275	C	T	C127665275T	STXBP1	NM_003165.4(STXBP1):c.607C>T:p.Gln203Ter	coding	Pathogenic
9	127665295	C	T	C127665295T	STXBP1	NM_003165.4(STXBP1):c.627C>T:p.Leu209=	coding	Benign/Likely_benign
9	127665304	T	A	T127665304A	STXBP1	NM_001032221.6(STXBP1):c.636T>A:p.Tyr212Ter	coding	Pathogenic
9	127665304	T	G	T127665304G	STXBP1	NM_001032221.6(STXBP1):c.636T>G:p.Tyr212Ter	coding	Pathogenic
9	127665332	G	A	G127665332A	STXBP1	NM_001032221.6(STXBP1):c.663+1G>A	coding	Pathogenic
9	127665332	G	C	G127665332C	STXBP1	NM_001032221.6(STXBP1):c.663+1G>C	coding	Pathogenic
9	127665348	C	T	C127665348T	STXBP1	NM_003165.4(STXBP1):c.663+17C>T	noncoding	Benign
9	127665538	T	A	T127665538A	STXBP1	NM_003165.4(STXBP1):c.663+207T>A	noncoding	Benign
9	127665840	C	T	C127665840T	STXBP1	NM_003165.4(STXBP1):c.664-326C>T	noncoding	Benign
9	127665966	C	T	C127665966T	STXBP1	NM_003165.4(STXBP1):c.664-200C>T	noncoding	Benign
9	127666165	G	C	G127666165C	STXBP1	NM_003165.4(STXBP1):c.664-1G>C	noncoding	Pathogenic
9	127666183	C	G	C127666183G	STXBP1	NM_003165.4(STXBP1):c.681C>G:p.Arg227=	coding	Benign
9	127666187	C	T	C127666187T	STXBP1	NM_003165.4(STXBP1):c.685C>T:p.Gln229Ter	coding	Pathogenic
9	127666205	C	T	C127666205T	STXBP1	NM_003165.4(STXBP1):c.703C>T:p.Arg235Ter	coding	Pathogenic
9	127666206	G	A	G127666206A	STXBP1	NM_003165.4(STXBP1):c.704G>A:p.Arg235Gln	coding	Pathogenic
9	127666235	C	G	C127666235G	STXBP1	NM_003165.4(STXBP1):c.733C>G:p.His245Asp	coding	Pathogenic
9	127666250	C	T	C127666250T	STXBP1	NM_003165.4(STXBP1):c.748C>T:p.Gln250Ter	coding	Pathogenic
9	127666294	C	A	C127666294A	STXBP1	NM_001032221.6(STXBP1):c.792C>A:p.Tyr264Ter	coding	Pathogenic
9	127666297	G	A	G127666297A	STXBP1	NM_003165.4(STXBP1):c.794+1G>A	coding	Pathogenic
9	127666301	G	A	G127666301A	STXBP1	NM_003165.4(STXBP1):c.794+5G>A	noncoding	Pathogenic
9	127666338	C	T	C127666338T	STXBP1	NM_003165.4(STXBP1):c.794+42C>T	noncoding	Benign
9	127667837	A	G	A127667837G	STXBP1	NM_003165.4(STXBP1):c.795-243A>G	noncoding	Benign
9	127668083	T	G	T127668083G	STXBP1	NM_003165.4(STXBP1):c.798T>G:p.Tyr266Ter	coding	Pathogenic
9	127668092	C	T	C127668092T	STXBP1	NM_003165.4(STXBP1):c.807C>T:p.Ser269=	coding	Benign
9	127668102	G	T	G127668102T	STXBP1	NM_003165.4(STXBP1):c.817G>T:p.Glu273Ter	coding	Pathogenic
9	127668109	G	A	G127668109A	STXBP1	NM_001032221.6(STXBP1):c.824G>A:p.Arg275Gln	coding	Benign
9	127668131	C	T	C127668131T	STXBP1	NM_003165.4(STXBP1):c.846C>T:p.Asp282=	coding	Benign
9	127668132	G	A	G127668132A	STXBP1	NM_003165.4(STXBP1):c.847G>A:p.Glu283Lys	coding	Pathogenic
9	127668160	G	A	G127668160A	STXBP1	NM_003165.4(STXBP1):c.875G>A:p.Arg292His	coding	Pathogenic
9	127668160	G	C	G127668160C	STXBP1	NM_001032221.6(STXBP1):c.875G>C:p.Arg292Pro	coding	Pathogenic
9	127668160	G	T	G127668160T	STXBP1	NM_003165.4(STXBP1):c.875G>T:p.Arg292Leu	coding	Pathogenic
9	127668173	C	T	C127668173T	STXBP1	NM_003165.4(STXBP1):c.888C>T:p.Ile296=	coding	Benign/Likely_benign
9	127668174	G	A	G127668174A	STXBP1	NM_003165.4(STXBP1):c.889G>A:p.Ala297Thr	coding	Pathogenic
9	127668188	G	A	G127668188A	STXBP1	NM_003165.4(STXBP1):c.902+1G>A	coding	Pathogenic
9	127668188	G	C	G127668188C	STXBP1	NM_003165.4(STXBP1):c.902+1G>C	coding	Pathogenic
9	127668196	C	A	C127668196A	STXBP1	NM_003165.4(STXBP1):c.902+9C>A	noncoding	Benign
9	127668202	C	T	C127668202T	STXBP1	NM_003165.4(STXBP1):c.902+15C>T	noncoding	Benign
9	127669894	C	G	C127669894G	STXBP1	NM_003165.4(STXBP1):c.903-4C>G	noncoding	Benign/Likely_benign
9	127669899	G	T	G127669899T	STXBP1	NM_003165.4(STXBP1):c.904G>T:p.Glu302Ter	coding	Pathogenic
9	127669959	G	T	G127669959T	STXBP1	NM_003165.4(STXBP1):c.963+1G>T	coding	Pathogenic
9	127672093	C	T	C127672093T	STXBP1	NM_003165.4(STXBP1):c.1006C>T:p.Gln336Ter	coding	Pathogenic
9	127672099	C	T	C127672099T	STXBP1	NM_003165.4(STXBP1):c.1012C>T:p.Gln338Ter	coding	Pathogenic
9	127672117	G	A	G127672117A	STXBP1	NM_001032221.6(STXBP1):c.1029+1G>A	coding	Pathogenic
9	127672117	G	C	G127672117C	STXBP1	NM_003165.4(STXBP1):c.1029+1G>C	coding	Pathogenic
9	127672117	G	T	G127672117T	STXBP1	NM_003165.4(STXBP1):c.1029+1G>T	coding	Pathogenic
9	127673180	G	T	G127673180T	STXBP1	NM_003165.4(STXBP1):c.1030-1G>T	noncoding	Pathogenic
9	127673211	T	C	T127673211C	STXBP1	NM_003165.4(STXBP1):c.1060T>C:p.Cys354Arg	coding	Pathogenic
9	127673212	G	A	G127673212A	STXBP1	NM_003165.4(STXBP1):c.1061G>A:p.Cys354Tyr	coding	Pathogenic
9	127673225	C	A	C127673225A	STXBP1	NM_001032221.6(STXBP1):c.1074C>A:p.Tyr358Ter	coding	Pathogenic
9	127673226	C	T	C127673226T	STXBP1	NM_003165.4(STXBP1):c.1075C>T:p.Gln359Ter	coding	Pathogenic
9	127673250	C	T	C127673250T	STXBP1	NM_001032221.6(STXBP1):c.1099C>T:p.Arg367Ter	coding	Pathogenic
9	127673261	G	A	G127673261A	STXBP1	NM_003165.4(STXBP1):c.1110G>A:p.Gln370=	coding	Pathogenic
9	127675855	C	T	C127675855T	STXBP1	NM_003165.4(STXBP1):c.1162C>T:p.Arg388Ter	coding	Pathogenic
9	127675909	C	T	C127675909T	STXBP1	NM_003165.4(STXBP1):c.1216C>T:p.Arg406Cys	coding	Pathogenic
9	127675910	G	A	G127675910A	STXBP1	NM_001032221.6(STXBP1):c.1217G>A:p.Arg406His	coding	Pathogenic/Likely_pathogenic
9	127675910	G	T	G127675910T	STXBP1	NM_003165.4(STXBP1):c.1217G>T:p.Arg406Leu	coding	Pathogenic/Likely_pathogenic
9	127675943	G	A	G127675943A	STXBP1	NM_001032221.6(STXBP1):c.1249+1G>A	coding	Pathogenic
9	127675943	G	C	G127675943C	STXBP1	NM_003165.4(STXBP1):c.1249+1G>C	coding	Pathogenic
9	127675951	G	A	G127675951A	STXBP1	NM_003165.4(STXBP1):c.1249+9G>A	noncoding	Benign/Likely_benign
9	127676625	G	A	G127676625A	STXBP1	NM_003165.4(STXBP1):c.1250-19G>A	noncoding	Benign
9	127676652	G	T	G127676652T	STXBP1	NM_001032221.6(STXBP1):c.1258G>T:p.Glu420Ter	coding	Pathogenic
9	127676655	G	T	G127676655T	STXBP1	NM_001032221.6(STXBP1):c.1261G>T:p.Glu421Ter	coding	Pathogenic
9	127676671	T	C	T127676671C	STXBP1	NM_003165.4(STXBP1):c.1277T>C:p.Leu426Pro	coding	Pathogenic/Likely_pathogenic
9	127676722	T	G	T127676722G	STXBP1	NM_003165.4(STXBP1):c.1328T>G:p.Met443Arg	coding	Pathogenic
9	127676745	G	A	G127676745A	STXBP1	NM_003165.4(STXBP1):c.1351G>A:p.Val451Ile	coding	Benign/Likely_benign
9	127676750	C	T	C127676750T	STXBP1	NM_003165.4(STXBP1):c.1356C>T:p.Thr452=	coding	Benign
9	127676754	G	A	G127676754A	STXBP1	NM_003165.4(STXBP1):c.1359+1G>A	coding	Pathogenic
9	127676754	G	T	G127676754T	STXBP1	NM_001032221.6(STXBP1):c.1359+1G>T	coding	Pathogenic
9	127676755	T	C	T127676755C	STXBP1	NM_003165.4(STXBP1):c.1359+2T>C	noncoding	Pathogenic
9	127676768	C	T	C127676768T	STXBP1	NM_003165.4(STXBP1):c.1359+15C>T	noncoding	Benign
9	127677073	T	C	T127677073C	STXBP1	NM_003165.4(STXBP1):c.1359+320T>C	noncoding	Benign
9	127678479	G	T	G127678479T	STXBP1	NM_003165.4(STXBP1):c.1408G>T:p.Glu470Ter	coding	Pathogenic
9	127678498	C	A	C127678498A	STXBP1	NM_001032221.6(STXBP1):c.1427C>A:p.Ser476Ter	coding	Pathogenic
9	127678498	C	G	C127678498G	STXBP1	NM_003165.4(STXBP1):c.1427C>G:p.Ser476Ter	coding	Pathogenic
9	127678505	G	A	G127678505A	STXBP1	NM_003165.4(STXBP1):c.1434G>A:p.Trp478Ter	coding	Pathogenic
9	127678510	C	T	C127678510T	STXBP1	NM_003165.4(STXBP1):c.1439C>T:p.Pro480Leu	coding	Pathogenic
9	127678537	G	A	G127678537A	STXBP1	NM_001032221.6(STXBP1):c.1461+5G>A	noncoding	Pathogenic
9	127678612	C	A	C127678612A	STXBP1	NM_003165.4(STXBP1):c.1461+80C>A	noncoding	Benign
9	127680238	G	A	G127680238A	STXBP1	NM_001032221.6(STXBP1):c.1543G>A:p.Val515Ile	coding	Benign
9	127680411	C	G	C127680411G	STXBP1	NM_003165.4(STXBP1):c.1547+169C>G	noncoding	Benign
9	127682391	C	A	C127682391A	STXBP1	NM_003165.4(STXBP1):c.1548-15C>A	noncoding	Benign
9	127682399	T	C	T127682399C	STXBP1	NM_003165.4(STXBP1):c.1548-7T>C	noncoding	Benign
9	127682406	C	T	C127682406T	STXBP1	NM_003165.4(STXBP1):c.1548C>T:p.Ser516=	coding	Benign/Likely_benign
9	127682415	T	A	T127682415A	STXBP1	NM_003165.4(STXBP1):c.1557T>A:p.Tyr519Ter	coding	Pathogenic
9	127682423	G	A	G127682423A	STXBP1	NM_003165.4(STXBP1):c.1565G>A:p.Trp522Ter	coding	Pathogenic
9	127682446	G	T	G127682446T	STXBP1	NM_001032221.6(STXBP1):c.1588G>T:p.Glu530Ter	coding	Pathogenic
9	127682451	C	A	C127682451A	STXBP1	NM_003165.4(STXBP1):c.1593C>A:p.Tyr531Ter	coding	Pathogenic
9	127682486	G	A	G127682486A	STXBP1	NM_001032221.6(STXBP1):c.1628G>A:p.Gly543Glu	coding	Pathogenic
9	127682488	G	T	G127682488T	STXBP1	NM_001032221.6(STXBP1):c.1630G>T:p.Gly544Cys	coding	Pathogenic
9	127682489	G	A	G127682489A	STXBP1	NM_003165.4(STXBP1):c.1631G>A:p.Gly544Asp	coding	Pathogenic
9	127682489	G	T	G127682489T	STXBP1	NM_003165.4(STXBP1):c.1631G>T:p.Gly544Val	coding	Pathogenic
9	127682509	C	A	C127682509A	STXBP1	NM_003165.4(STXBP1):c.1651C>A:p.Arg551Ser	coding	Pathogenic/Likely_pathogenic
9	127682509	C	T	C127682509T	STXBP1	NM_003165.4(STXBP1):c.1651C>T:p.Arg551Cys	coding	Pathogenic
9	127682510	G	A	G127682510A	STXBP1	NM_003165.4(STXBP1):c.1652G>A:p.Arg551His	coding	Pathogenic
9	127682510	G	C	G127682510C	STXBP1	NM_003165.4(STXBP1):c.1652G>C:p.Arg551Pro	coding	Pathogenic
9	127682510	G	T	G127682510T	STXBP1	NM_003165.4(STXBP1):c.1652G>T:p.Arg551Leu	coding	Pathogenic
9	127682514	C	A	C127682514A	STXBP1	NM_001032221.6(STXBP1):c.1656C>A:p.Cys552Ter	coding	Pathogenic
9	127682520	C	T	C127682520T	STXBP1	NM_003165.4(STXBP1):c.1662C>T:p.Tyr554=	coding	Benign/Likely_benign
9	127682530	C	T	C127682530T	STXBP1	NM_003165.4(STXBP1):c.1672C>T:p.Gln558Ter	coding	Pathogenic
9	127682547	G	A	G127682547A	STXBP1	NM_003165.4(STXBP1):c.1689G>A:p.Trp563Ter	coding	Pathogenic
9	127682561	G	A	G127682561A	STXBP1	NM_003165.4(STXBP1):c.1702+1G>A	coding	Pathogenic
9	127682571	G	A	G127682571A	STXBP1	NM_003165.4(STXBP1):c.1702+11G>A	noncoding	Benign
9	127682599	C	T	C127682599T	STXBP1	NM_003165.4(STXBP1):c.1702+39C>T	noncoding	Benign
9	127682863	A	G	A127682863G	STXBP1	NM_003165.4(STXBP1):c.1702+303A>G	noncoding	Benign
9	127684214	A	G	A127684214G	STXBP1	NM_003165.4(STXBP1):c.1703-154A>G	noncoding	Benign
9	127684430	G	A	G127684430A	STXBP1	NM_001032221.6(STXBP1):c.1702+1870G>A	coding	Benign
9	127732093	G	T	G127732093T	TOR2A	NM_001085347.3(TOR2A):c.907C>A:p.Gln303Lys	coding	Benign
9	127744627	C	T	C127744627T	SH2D3C	NM_170600.3(SH2D3C):c.1737G>A:p.Lys579=	coding	Benign
9	127787511	C	T	C127787511T	CDK9	NM_001261.4(CDK9):c.175-7C>T	noncoding	Benign
9	127815362	C	T	C127815362T	ENG	NM_001114753.3(ENG):c.*320G>A	noncoding	Benign
9	127815727	G	A	G127815727A	ENG	NM_001114753.3(ENG):c.1932C>T:p.Ile644=	coding	Benign/Likely_benign
9	127815806	C	A	C127815806A	ENG	NM_000118.3(ENG):c.*111G>T	coding	Pathogenic
9	127815951	G	A	G127815951A	ENG	NM_001114753.3(ENG):c.1844C>T:p.Ser615Leu	coding	Benign/Likely_benign
9	127816001	A	G	A127816001G	ENG	NM_001114753.3(ENG):c.1794T>C:p.Gly598=	coding	Benign/Likely_benign
9	127816034	G	A	G127816034A	ENG	NM_000118.3(ENG):c.1761C>T:p.Leu587=	coding	Benign
9	127816075	A	G	A127816075G	ENG	NM_000118.3(ENG):c.1742-22T>C	noncoding	Pathogenic
9	127816125	A	G	A127816125G	ENG	NM_000118.3(ENG):c.1742-72T>C	noncoding	Benign
9	127817175	A	T	A127817175T	ENG	NM_000118.3(ENG):c.1715T>A:p.Leu572Ter	coding	Pathogenic
9	127817204	C	A	C127817204A	ENG	NM_000118.3(ENG):c.1687-1G>T	coding	Pathogenic
9	127817320	C	T	C127817320T	ENG	NM_000118.3(ENG):c.1687-117G>A	noncoding	Benign
9	127818119	C	T	C127818119T	ENG	NM_000118.3(ENG):c.1686+1G>A	noncoding	Pathogenic
9	127818122	G	A	G127818122A	ENG	NM_000118.3(ENG):c.1684C>T:p.Gln562Ter	coding	Pathogenic
9	127818128	G	A	G127818128A	ENG	NM_001114753.3(ENG):c.1678C>T:p.Gln560Ter	coding	Pathogenic
9	127818160	C	T	C127818160T	ENG	NM_000118.3(ENG):c.1646G>A:p.Cys549Tyr	coding	Pathogenic
9	127818273	C	T	C127818273T	ENG	NM_000118.3(ENG):c.1533G>A:p.Ala511=	coding	Benign/Likely_benign
9	127818293	C	A	C127818293A	ENG	NM_001114753.3(ENG):c.1513G>T:p.Glu505Ter	coding	Pathogenic
9	127818296	C	T	C127818296T	ENG	NM_000118.3(ENG):c.1510G>A:p.Val504Met	coding	Benign/Likely_benign
9	127818305	C	A	C127818305A	ENG	NM_000118.3(ENG):c.1501G>T:p.Gly501Ter	coding	Pathogenic
9	127818316	A	T	A127818316T	ENG	NM_001114753.3(ENG):c.1490T>A:p.Leu497Ter	coding	Pathogenic
9	127818341	G	A	G127818341A	ENG	NM_000118.3(ENG):c.1465C>T:p.Gln489Ter	coding	Pathogenic/Likely_pathogenic
9	127818351	C	T	C127818351T	ENG	NM_000118.3(ENG):c.1455G>A:p.Glu485=	coding	Benign/Likely_benign
9	127818353	C	A	C127818353A	ENG	NM_000118.3(ENG):c.1453G>T:p.Glu485Ter	coding	Pathogenic
9	127818354	G	A	G127818354A	ENG	NM_000118.3(ENG):c.1452C>T:p.Ser484=	coding	Benign/Likely_benign
9	127818714	A	G	A127818714G	ENG	NM_000118.3(ENG):c.1428+2T>C	noncoding	Pathogenic
9	127818714	A	T	A127818714T	ENG	NM_000118.3(ENG):c.1428+2T>A	noncoding	Pathogenic
9	127818715	C	T	C127818715T	ENG	NM_000118.3(ENG):c.1428+1G>A	noncoding	Pathogenic
9	127818725	G	A	G127818725A	ENG	NM_000118.3(ENG):c.1419C>T:p.Ser473=	coding	Benign
9	127818733	G	A	G127818733A	ENG	NM_001114753.3(ENG):c.1411C>T:p.Gln471Ter	coding	Pathogenic
9	127818760	G	A	G127818760A	ENG	NM_001114753.3(ENG):c.1384C>T:p.Gln462Ter	coding	Pathogenic
9	127818770	T	C	T127818770C	ENG	NM_000118.3(ENG):c.1374A>G:p.Pro458=	coding	Benign/Likely_benign
9	127818779	G	T	G127818779T	ENG	NM_001114753.3(ENG):c.1365C>A:p.Tyr455Ter	coding	Pathogenic
9	127818793	G	A	G127818793A	ENG	NM_000118.3(ENG):c.1351C>T:p.Gln451Ter	coding	Pathogenic
9	127818818	G	T	G127818818T	ENG	NM_000118.3(ENG):c.1326C>A:p.Cys442Ter	coding	Pathogenic
9	127818832	T	A	T127818832A	ENG	NM_000118.3(ENG):c.1312A>T:p.Lys438Ter	coding	Pathogenic
9	127819444	A	G	A127819444G	ENG	NM_000118.3(ENG):c.1311+178T>C	noncoding	Benign
9	127819528	T	C	T127819528C	ENG	NM_000118.3(ENG):c.1311+94A>G	noncoding	Benign
9	127819622	C	G	C127819622G	ENG	NM_000118.3(ENG):c.1311G>C:p.Arg437=	coding	Pathogenic
9	127819622	C	T	C127819622T	ENG	NM_001114753.3(ENG):c.1311G>A:p.Arg437=	coding	Pathogenic
9	127819624	G	A	G127819624A	ENG	NM_000118.3(ENG):c.1309C>T:p.Arg437Trp	coding	Pathogenic
9	127819627	G	A	G127819627A	ENG	NM_000118.3(ENG):c.1306C>T:p.Gln436Ter	coding	Pathogenic
9	127819641	G	T	G127819641T	ENG	NM_000118.3(ENG):c.1292C>A:p.Ser431Ter	coding	Pathogenic
9	127819662	T	A	T127819662A	ENG	NM_001114753.3(ENG):c.1273-2A>T	noncoding	Pathogenic
9	127819662	T	C	T127819662C	ENG	NM_001114753.3(ENG):c.1273-2A>G	noncoding	Pathogenic
9	127819899	C	T	C127819899T	ENG	NM_000118.3(ENG):c.1272+1G>A	noncoding	Pathogenic
9	127819929	G	A	G127819929A	ENG;LOC102723566	NM_000118.3(ENG):c.1243C>T:p.Gln415Ter	coding	Pathogenic
9	127819934	C	A	C127819934A	ENG	NM_000118.3(ENG):c.1238G>T:p.Gly413Val	coding	Pathogenic
9	127819936	A	T	A127819936T	ENG	NM_001114753.3(ENG):c.1236T>A:p.Cys412Ter	coding	Pathogenic
9	127819937	C	T	C127819937T	ENG	NM_000118.3(ENG):c.1235G>A:p.Cys412Tyr	coding	Pathogenic
9	127819939	G	A	G127819939A	ENG	NM_000118.3(ENG):c.1233C>T:p.Ser411=	coding	Benign
9	127819989	C	A	C127819989A	ENG	NM_001114753.3(ENG):c.1183G>T:p.Glu395Ter	coding	Pathogenic
9	127820003	C	T	C127820003T	ENG	NM_000118.3(ENG):c.1169G>A:p.Trp390Ter	coding	Pathogenic
9	127820044	C	T	C127820044T	ENG	NM_000118.3(ENG):c.1135-7G>A	noncoding	Benign/Likely_benign
9	127824304	C	T	C127824304T	ENG	NM_000118.3(ENG):c.1134G>A:p.Ala378=	coding	Pathogenic/Likely_pathogenic
9	127824342	C	G	C127824342G	ENG	NM_001114753.3(ENG):c.1096G>C:p.Asp366His	coding	Benign/Likely_benign
9	127824378	G	A	G127824378A	ENG	NM_001114753.3(ENG):c.1060C>T:p.Leu354=	coding	Benign/Likely_benign
9	127824409	G	A	G127824409A	ENG	NM_001114753.3(ENG):c.1029C>T:p.Thr343=	coding	Benign/Likely_benign
9	127824414	G	A	G127824414A	ENG	NM_000118.3(ENG):c.1024C>T:p.Gln342Ter	coding	Pathogenic
9	127824448	T	C	T127824448C	ENG	NM_000118.3(ENG):c.992-2A>G	noncoding	Pathogenic
9	127824742	T	A	T127824742A	ENG	NM_000118.3(ENG):c.991+58A>T	noncoding	Benign
9	127824798	A	C	A127824798C	ENG	NM_000118.3(ENG):c.991+2T>G	noncoding	Pathogenic
9	127824798	A	G	A127824798G	ENG	NM_000118.3(ENG):c.991+2T>C	noncoding	Pathogenic
9	127824800	C	T	C127824800T	ENG	NM_000118.3(ENG):c.991G>A:p.Gly331Ser	coding	Pathogenic/Likely_pathogenic
9	127824882	G	A	G127824882A	ENG	NM_001114753.3(ENG):c.909C>T:p.Ala303=	coding	Benign/Likely_benign
9	127824887	C	A	C127824887A	ENG	NM_000118.3(ENG):c.904G>T:p.Glu302Ter	coding	Pathogenic
9	127824892	A	G	A127824892G	ENG	NM_000118.3(ENG):c.899T>C:p.Leu300Pro	coding	Pathogenic/Likely_pathogenic
9	127824953	T	A	T127824953A	ENG	NM_000118.3(ENG):c.838A>T:p.Lys280Ter	coding	Pathogenic
9	127824960	G	C	G127824960C	ENG	NM_000118.3(ENG):c.831C>G:p.Tyr277Ter	coding	Pathogenic
9	127824960	G	T	G127824960T	ENG	NM_000118.3(ENG):c.831C>A:p.Tyr277Ter	coding	Pathogenic
9	127824975	C	G	C127824975G	ENG	NM_000118.3(ENG):c.817-1G>C	coding	Pathogenic
9	127824975	C	T	C127824975T	ENG	NM_001114753.3(ENG):c.817-1G>A	coding	Pathogenic
9	127825225	A	G	A127825225G	ENG	NM_000118.3(ENG):c.816+6T>C	noncoding	Pathogenic
9	127825231	C	T	C127825231T	ENG	NM_000118.3(ENG):c.816G>A:p.Trp272Ter	coding	Pathogenic
9	127825232	C	T	C127825232T	ENG	NM_000118.3(ENG):c.815G>A:p.Trp272Ter	coding	Pathogenic
9	127825239	G	A	G127825239A	ENG	NM_000118.3(ENG):c.808C>T:p.Gln270Ter	coding	Pathogenic
9	127825265	C	T	C127825265T	ENG	NM_000118.3(ENG):c.782G>A:p.Trp261Ter	coding	Pathogenic
9	127825273	G	C	G127825273C	ENG	NM_001114753.3(ENG):c.774C>G:p.Tyr258Ter	coding	Pathogenic
9	127825273	G	T	G127825273T	ENG	NM_001114753.3(ENG):c.774C>A:p.Tyr258Ter	coding	Pathogenic
9	127825287	G	A	G127825287A	ENG	NM_000118.3(ENG):c.760C>T:p.Gln254Ter	coding	Pathogenic
9	127825315	G	A	G127825315A	ENG	NM_000118.3(ENG):c.732C>T:p.Pro244=	coding	Benign/Likely_benign
9	127825321	G	T	G127825321T	ENG	NM_000118.3(ENG):c.726C>A:p.Cys242Ter	coding	Pathogenic
9	127825332	C	A	C127825332A	ENG	NM_000118.3(ENG):c.715G>T:p.Glu239Ter	coding	Pathogenic
9	127825359	T	A	T127825359A	ENG	NM_000118.3(ENG):c.690-2A>T	noncoding	Pathogenic
9	127825359	T	C	T127825359C	ENG	NM_001114753.3(ENG):c.690-2A>G	noncoding	Pathogenic
9	127825416	G	T	G127825416T	ENG	NM_000118.3(ENG):c.690-59C>A	noncoding	Benign
9	127825693	A	G	A127825693G	ENG	NM_000118.3(ENG):c.689+2T>C	noncoding	Pathogenic
9	127825693	A	T	A127825693T	ENG	NM_001114753.3(ENG):c.689+2T>A	noncoding	Pathogenic
9	127825694	C	T	C127825694T	ENG	NM_000118.3(ENG):c.689+1G>A	noncoding	Pathogenic
9	127825701	G	T	G127825701T	ENG	NM_000118.3(ENG):c.683C>A:p.Ser228Ter	coding	Pathogenic
9	127825722	A	G	A127825722G	ENG	NM_000118.3(ENG):c.662T>C:p.Leu221Pro	coding	Pathogenic
9	127825725	A	G	A127825725G	ENG	NM_000118.3(ENG):c.659T>C:p.Ile220Thr	coding	Pathogenic/Likely_pathogenic
9	127825758	A	T	A127825758T	ENG	NM_001114753.3(ENG):c.626T>A:p.Leu209Ter	coding	Pathogenic
9	127825763	G	T	G127825763T	ENG	NM_000118.3(ENG):c.621C>A:p.Cys207Ter	coding	Pathogenic
9	127825789	G	A	G127825789A	ENG	NM_000118.3(ENG):c.595C>T:p.Arg199Cys	coding	Benign
9	127825796	C	T	C127825796T	ENG	NM_000118.3(ENG):c.588G>A:p.Trp196Ter	coding	Pathogenic
9	127825797	C	T	C127825797T	ENG	NM_000118.3(ENG):c.587G>A:p.Trp196Ter	coding	Pathogenic
9	127825812	C	T	C127825812T	ENG	NM_001114753.3(ENG):c.572G>A:p.Gly191Asp	coding	Benign/Likely_benign
9	127825822	G	A	G127825822A	ENG	NM_000118.3(ENG):c.562C>T:p.Gln188Ter	coding	Pathogenic
9	127825858	G	A	G127825858A	ENG	NM_000118.3(ENG):c.526C>T:p.Gln176Ter	coding	Pathogenic
9	127825862	T	C	T127825862C	ENG	NM_000118.3(ENG):c.524-2A>G	noncoding	Pathogenic
9	127825875	G	A	G127825875A	ENG	NM_000118.3(ENG):c.524-15C>T	noncoding	Benign/Likely_benign
9	127825890	C	T	C127825890T	ENG	NM_000118.3(ENG):c.524-30G>A	noncoding	Benign
9	127826509	C	G	C127826509G	ENG	NM_001114753.3(ENG):c.523+1G>C	noncoding	Pathogenic
9	127826510	C	A	C127826510A	ENG	NM_000118.3(ENG):c.523G>T:p.Ala175Ser	coding	Pathogenic/Likely_pathogenic
9	127826522	G	A	G127826522A	ENG	NM_000118.3(ENG):c.511C>T:p.Arg171Ter	coding	Pathogenic
9	127826526	G	A	G127826526A	ENG	NM_000118.3(ENG):c.507C>T:p.Leu169=	coding	Benign/Likely_benign
9	127826539	G	A	G127826539A	ENG	NM_001114753.3(ENG):c.494C>T:p.Pro165Leu	coding	Pathogenic
9	127826586	C	G	C127826586G	ENG	NM_000118.3(ENG):c.447G>C:p.Trp149Cys	coding	Pathogenic
9	127826587	C	T	C127826587T	ENG	NM_000118.3(ENG):c.446G>A:p.Trp149Ter	coding	Pathogenic
9	127826645	G	A	G127826645A	ENG	NM_000118.3(ENG):c.388C>T:p.Pro130Ser	coding	Benign/Likely_benign
9	127829666	G	A	G127829666A	ENG	NM_000118.3(ENG):c.360+21C>T	noncoding	Benign
9	127829686	C	A	C127829686A	ENG	NM_001114753.3(ENG):c.360+1G>T	noncoding	Pathogenic
9	127829686	C	T	C127829686T	ENG	NM_000118.3(ENG):c.360+1G>A	noncoding	Pathogenic
9	127829687	G	T	G127829687T	ENG	NM_000118.3(ENG):c.360C>A:p.Tyr120Ter	coding	Pathogenic
9	127829719	G	A	G127829719A	ENG	NM_001114753.3(ENG):c.328C>T:p.Gln110Ter	coding	Pathogenic
9	127829733	A	T	A127829733T	ENG	NM_000118.3(ENG):c.314T>A:p.Val105Asp	coding	Pathogenic
9	127829767	C	A	C127829767A	ENG	NM_000118.3(ENG):c.280G>T:p.Glu94Ter	coding	Pathogenic
9	127829770	G	A	G127829770A	ENG	NM_000118.3(ENG):c.277C>T:p.Arg93Ter	coding	Pathogenic
9	127829800	G	A	G127829800A	ENG	NM_000118.3(ENG):c.247C>T:p.Gln83Ter	coding	Pathogenic
9	127829813	C	T	C127829813T	ENG	NM_000118.3(ENG):c.234G>A:p.Leu78=	coding	Benign
9	127829818	G	A	G127829818A	ENG	NM_000118.3(ENG):c.229C>T:p.Gln77Ter	coding	Pathogenic
9	127829822	C	T	C127829822T	ENG	NM_000118.3(ENG):c.225G>A:p.Pro75=	coding	Benign/Likely_benign
9	127829828	C	T	C127829828T	ENG	NM_000118.3(ENG):c.220-1G>A	coding	Pathogenic/Likely_pathogenic
9	127843069	C	A	C127843069A	ENG	NM_000118.3(ENG):c.219+25G>T	noncoding	Benign
9	127843089	C	G	C127843089G	ENG	NM_000118.3(ENG):c.219+5G>C	noncoding	Pathogenic
9	127843093	C	T	C127843093T	ENG	NM_000118.3(ENG):c.219+1G>A	noncoding	Pathogenic
9	127843094	C	T	C127843094T	ENG	NM_000118.3(ENG):c.219G>A:p.Thr73=	coding	Pathogenic
9	127843105	C	A	C127843105A	ENG	NM_001114753.3(ENG):c.208G>T:p.Glu70Ter	coding	Pathogenic
9	127843106	C	T	C127843106T	ENG	NM_001114753.3(ENG):c.207G>A:p.Leu69=	coding	Benign/Likely_benign
9	127843126	C	A	C127843126A	ENG	NM_000118.3(ENG):c.187G>T:p.Glu63Ter	coding	Pathogenic
9	127843133	G	T	G127843133T	ENG	NM_000118.3(ENG):c.180C>A:p.Ala60=	coding	Benign
9	127843134	G	T	G127843134T	ENG	NM_000118.3(ENG):c.179C>A:p.Ala60Asp	coding	Benign
9	127843147	G	A	G127843147A	ENG	NM_000118.3(ENG):c.166C>T:p.Gln56Ter	coding	Pathogenic
9	127843154	G	A	G127843154A	ENG	NM_000118.3(ENG):c.159C>T:p.Cys53=	coding	Benign/Likely_benign
9	127843154	G	T	G127843154T	ENG	NM_001114753.3(ENG):c.159C>A:p.Cys53Ter	coding	Pathogenic
9	127843158	C	T	C127843158T	ENG	NM_000118.3(ENG):c.155G>A:p.Gly52Asp	coding	Pathogenic/Likely_pathogenic
9	127843168	C	A	C127843168A	ENG	NM_000118.3(ENG):c.145G>T:p.Val49Phe	coding	Pathogenic
9	127843171	G	A	G127843171A	ENG	NM_001114753.3(ENG):c.142C>T:p.Gln48Ter	coding	Pathogenic
9	127843193	G	A	G127843193A	ENG	NM_001114753.3(ENG):c.120C>T:p.Gly40=	coding	Benign/Likely_benign
9	127843216	G	A	G127843216A	ENG	NM_000118.3(ENG):c.97C>T:p.Gln33Ter	coding	Pathogenic
9	127843244	A	G	A127843244G	ENG	NM_000118.3(ENG):c.69T>C:p.Ser23=	coding	Benign
9	127843246	C	T	C127843246T	ENG	NM_000118.3(ENG):c.68-1G>A	coding	Pathogenic/Likely_pathogenic
9	127843460	A	G	A127843460G	ENG	NM_000118.3(ENG):c.68-215T>C	noncoding	Benign
9	127854288	C	T	C127854288T	ENG	NM_000118.3(ENG):c.67+1G>A	noncoding	Pathogenic
9	127854315	A	G	A127854315G	ENG	NM_000118.3(ENG):c.41T>C:p.Leu14Pro	coding	Pathogenic
9	127854342	G	A	G127854342A	ENG	NM_001114753.3(ENG):c.14C>T:p.Thr5Met	coding	Benign/Likely_benign
9	127854348	C	T	C127854348T	ENG	NM_001114753.3(ENG):c.8G>A:p.Arg3His	coding	Pathogenic
9	127854354	A	C	A127854354C	ENG	NM_000118.3(ENG):c.2T>G:p.Met1Arg	coding	Pathogenic
9	127854354	A	G	A127854354G	ENG	NM_000118.3(ENG):c.2T>C:p.Met1Thr	coding	Pathogenic
9	127854355	T	C	T127854355C	ENG	NM_000118.3(ENG):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
9	127854355	T	G	T127854355G	ENG	NM_000118.3(ENG):c.1A>C:p.Met1Leu	coding	Pathogenic
9	127854409	G	T	G127854409T	ENG	NM_000118.3(ENG):c.-54C>A	noncoding	Benign
9	127854470	C	G	C127854470G	ENG	NM_000118.3(ENG):c.-115G>C	noncoding	Benign
9	127854482	G	A	G127854482A	ENG	NM_000118.3(ENG):c.-127C>T	noncoding	Pathogenic/Likely_pathogenic
9	127868310	G	T	G127868310T	AK1	NM_000476.2(AK1):c.516+11C>A	noncoding	Benign
9	127868346	T	C	T127868346C	AK1	NM_000476.2(AK1):c.491A>G:p.Tyr164Cys	coding	Pathogenic
9	127868360	A	G	A127868360G	AK1	NM_000476.2(AK1):c.477=:p.Pro159=	coding	Benign
9	127868455	G	A	G127868455A	AK1	NM_000476.2(AK1):c.382C>T:p.Arg128Trp	coding	Pathogenic
9	127868470	C	G	C127868470G	AK1	NM_000476.2(AK1):c.367G>C:p.Glu123Gln	coding	Benign
9	127868521	G	A	G127868521A	AK1	NM_000476.2(AK1):c.325-9C>T	noncoding	Benign
9	127871828	G	A	G127871828A	AK1	NM_000476.2(AK1):c.319C>T:p.Arg107Ter	coding	Pathogenic
9	127872707	C	T	C127872707T	AK1	NM_000476.2(AK1):c.190G>A:p.Gly64Arg	coding	Pathogenic
9	127872711	C	T	C127872711T	AK1	NM_000476.2(AK1):c.186G>A:p.Glu62=	coding	Benign
9	127872779	C	T	C127872779T	AK1	NM_000476.2(AK1):c.118G>A:p.Gly40Arg	coding	Pathogenic
9	127912411	G	A	G127912411A	ST6GALNAC4	NM_175039.4(ST6GALNAC4):c.468C>T:p.His156=	coding	Benign
9	127914815	G	A	G127914815A	ST6GALNAC4	NM_175039.4(ST6GALNAC4):c.39C>T:p.Cys13=	coding	Benign
9	127935750	G	C	G127935750C	DPM2	NM_003863.3(DPM2):c.227C>G:p.Thr76Ser	coding	Benign
9	127935764	A	G	A127935764G	DPM2	NM_003863.3(DPM2):c.213T>C:p.Tyr71=	coding	Benign
9	127936566	C	T	C127936566T	DPM2	NM_003863.3(DPM2):c.183G>A:p.Leu61=	coding	Benign/Likely_benign
9	127936572	G	A	G127936572A	DPM2	NM_003863.3(DPM2):c.177C>T:p.Leu59=	coding	Benign/Likely_benign
9	127937459	T	C	T127937459C	DPM2	NM_003863.3(DPM2):c.68A>G:p.Tyr23Cys	coding	Pathogenic
9	127937524	C	G	C127937524G	DPM2	NM_003863.3(DPM2):c.4-1G>C	coding	Pathogenic
9	127937638	G	A	G127937638A	DPM2	NM_003863.3(DPM2):c.4-115C>T	noncoding	Benign
9	127937972	T	C	T127937972C	DPM2	NM_003863.3(DPM2):c.-152A>G	noncoding	Benign
9	127938448	T	C	T127938448C	DPM2	NM_003863.3(DPM2):c.-628A>G	noncoding	Benign
9	128107279	G	A	G128107279A	SLC25A25	NM_001330988.1(SLC25A25):c.1383G>A:p.Pro461=	coding	Benign
9	128123014	C	G	C128123014G	PTGES2	NM_025072.7(PTGES2):c.807G>C:p.Lys269Asn	coding	Benign
9	128151725	T	C	T128151725C	LCN2	NM_005564.5(LCN2):c.355+8T>C	noncoding	Benign
9	128151891	C	G	C128151891G	LCN2	NM_005564.5(LCN2):c.356-15C>G	noncoding	Benign
9	128151903	C	A	C128151903A	LCN2	NM_005564.5(LCN2):c.356-3C>A	noncoding	Benign
9	128151921	C	T	C128151921T	LCN2	NM_005564.5(LCN2):c.371C>T:p.Thr124Met	coding	Benign
9	128166332	G	A	G128166332A	CIZ1	NM_001131016.2(CIZ1):c.2562C>T:p.Asn854=	coding	Benign
9	128166354	C	T	C128166354T	CIZ1	NM_001131016.2(CIZ1):c.2540G>A:p.Arg847Gln	coding	Benign
9	128169142	G	A	G128169142A	CIZ1	NM_001131016.2(CIZ1):c.2205C>T:p.Asp735=	coding	Benign
9	128170094	T	G	T128170094G	CIZ1	NM_001131016.2(CIZ1):c.1957A>C:p.Arg653=	coding	Benign
9	128176371	G	A	G128176371A	CIZ1	NM_001131016.2(CIZ1):c.1923C>T:p.Asp641=	coding	Benign
9	128177651	G	A	G128177651A	CIZ1	NM_001131016.2(CIZ1):c.1733C>T:p.Ser578Phe	coding	Benign
9	128178842	T	C	T128178842C	CIZ1	NM_001131016.2(CIZ1):c.1365A>G:p.Val455=	coding	Benign
9	128178855	G	A	G128178855A	CIZ1	NM_001131016.2(CIZ1):c.1352C>T:p.Ala451Val	coding	Benign
9	128178980	G	T	G128178980T	CIZ1	NM_001131016.2(CIZ1):c.1227C>A:p.Pro409=	coding	Benign
9	128179008	A	G	A128179008G	CIZ1	NM_001131016.2(CIZ1):c.1199T>C:p.Leu400Pro	coding	Benign
9	128179010	C	T	C128179010T	CIZ1	NM_001131016.2(CIZ1):c.1197G>A:p.Pro399=	coding	Benign
9	128179037	C	A	C128179037A	CIZ1	NM_001131016.2(CIZ1):c.1170G>T:p.Gln390His	coding	Benign
9	128179098	T	C	T128179098C	CIZ1	NM_001131016.2(CIZ1):c.1109A>G:p.Glu370Gly	coding	Benign
9	128179172	C	T	C128179172T	CIZ1	NM_001131016.2(CIZ1):c.1035G>A:p.Ala345=	coding	Benign
9	128179208	T	C	T128179208C	CIZ1	NM_001131016.2(CIZ1):c.999A>G:p.Thr333=	coding	Benign
9	128179337	C	T	C128179337T	CIZ1	NM_001131016.2(CIZ1):c.870G>A:p.Pro290=	coding	Benign
9	128180453	A	G	A128180453G	CIZ1	NM_001131016.2(CIZ1):c.753T>C:p.Pro251=	coding	Benign
9	128180498	C	T	C128180498T	CIZ1	NM_001131016.2(CIZ1):c.708G>A:p.Glu236=	coding	Benign
9	128180510	C	T	C128180510T	CIZ1	NM_001131016.2(CIZ1):c.696G>A:p.Pro232=	coding	Benign
9	128180530	T	C	T128180530C	CIZ1	NM_001131016.2(CIZ1):c.683-7A>G	noncoding	Benign
9	128180748	C	T	C128180748T	CIZ1	NM_001131016.2(CIZ1):c.655G>A:p.Ala219Thr	coding	Benign
9	128185739	G	A	G128185739A	CIZ1	NM_001131016.2(CIZ1):c.396C>T:p.Leu132=	coding	Benign
9	128203454	C	A	C128203454A	DNM1	NM_004408.4(DNM1):c.-17C>A	noncoding	Benign
9	128203476	C	T	C128203476T	DNM1	NM_004408.4(DNM1):c.6C>T:p.Gly2=	coding	Benign
9	128203516	C	A	C128203516A	DNM1	NM_004408.4(DNM1):c.46C>A:p.Leu16Met	coding	Benign
9	128203597	G	A	G128203597A	DNM1	NM_004408.4(DNM1):c.127G>A:p.Gly43Ser	coding	Pathogenic
9	128203604	G	A	G128203604A	DNM1	NM_004408.4(DNM1):c.134G>A:p.Ser45Asn	coding	Pathogenic/Likely_pathogenic
9	128203609	G	A	G128203609A	DNM1	NM_004408.4(DNM1):c.139G>A:p.Val47Met	coding	Pathogenic/Likely_pathogenic
9	128218658	G	A	G128218658A	DNM1	NM_004408.4(DNM1):c.312G>A:p.Glu104=	coding	Benign
9	128218678	C	G	C128218678G	DNM1	NM_004408.4(DNM1):c.332C>G:p.Thr111Ser	coding	Benign
9	128218703	T	C	T128218703C	DNM1	NM_004408.4(DNM1):c.357T>C:p.Pro119=	coding	Benign
9	128218785	C	T	C128218785T	DNM1	NM_004408.4(DNM1):c.385+54C>T	noncoding	Benign
9	128219035	G	A	G128219035A	DNM1	NM_004408.4(DNM1):c.386-14G>A	noncoding	Benign
9	128219113	C	G	C128219113G	DNM1	NM_004408.4(DNM1):c.450C>G:p.Pro150=	coding	Benign/Likely_benign
9	128219192	G	C	G128219192C	DNM1	NM_004408.4(DNM1):c.529G>C:p.Ala177Pro	coding	Pathogenic
9	128219206	G	A	G128219206A	DNM1	NM_004408.4(DNM1):c.543G>A:p.Leu181=	coding	Benign
9	128219387	G	C	G128219387C	DNM1	NM_004408.4(DNM1):c.589+135G>C	noncoding	Benign
9	128220016	G	C	G128220016C	DNM1	NM_004408.4(DNM1):c.618G>C:p.Lys206Asn	coding	Pathogenic
9	128220137	C	T	C128220137T	DNM1	NM_004408.4(DNM1):c.689-44C>T	noncoding	Benign
9	128220201	C	T	C128220201T	DNM1	NM_004408.4(DNM1):c.709C>T:p.Arg237Trp	coding	Pathogenic
9	128220205	G	T	G128220205T	DNM1	NM_004408.4(DNM1):c.713G>T:p.Ser238Ile	coding	Pathogenic
9	128220239	C	T	C128220239T	DNM1	NM_004408.4(DNM1):c.747C>T:p.Thr249=	coding	Benign/Likely_benign
9	128220240	G	A	G128220240A	DNM1	NM_004408.4(DNM1):c.748G>A:p.Ala250Thr	coding	Benign
9	128220317	C	G	C128220317G	DNM1	NM_004408.4(DNM1):c.825C>G:p.Pro275=	coding	Benign
9	128222151	C	A	C128222151A	DNM1	NM_004408.4(DNM1):c.850-46C>A	noncoding	Benign
9	128222212	A	T	A128222212T	DNM1	NM_004408.4(DNM1):c.865A>T:p.Ile289Phe	coding	Pathogenic
9	128222476	C	T	C128222476T	DNM1	NM_004408.4(DNM1):c.1008C>T:p.Phe336=	coding	Benign
9	128222504	G	A	G128222504A	DNM1	NM_004408.4(DNM1):c.1036G>A:p.Gly346Ser	coding	Pathogenic
9	128222530	C	T	C128222530T	DNM1	NM_004408.4(DNM1):c.1062C>T:p.Tyr354=	coding	Benign
9	128222543	G	A	G128222543A	DNM1	NM_004408.4(DNM1):c.1075G>A:p.Gly359Arg	coding	Pathogenic
9	128222544	G	C	G128222544C	DNM1	NM_004408.4(DNM1):c.1076G>C:p.Gly359Ala	coding	Pathogenic
9	128222854	G	A	G128222854A	DNM1	NM_004408.4(DNM1):c.1190G>A:p.Gly397Asp	coding	Pathogenic
9	128222864	C	T	C128222864T	DNM1	NM_004408.4(DNM1):c.1196+4C>T	noncoding	Benign
9	128224244	C	T	C128224244T	DNM1	NM_004408.4(DNM1):c.1197-7C>T	noncoding	Benign/Likely_benign
9	128225882	C	T	C128225882T	DNM1	NM_004408.4(DNM1):c.1335+1493C>T	noncoding	Benign
9	128226336	C	A	C128226336A	DNM1	NM_004408.4(DNM1):c.1335+1947C>A	noncoding	Benign
9	128226337	C	T	C128226337T	DNM1	NM_004408.4(DNM1):c.1335+1948C>T	noncoding	Benign
9	128233790	G	A	G128233790A	DNM1	NM_004408.4(DNM1):c.1336-231G>A	noncoding	Benign
9	128234296	T	C	T128234296C	DNM1	NM_004408.4(DNM1):c.1422+189T>C	noncoding	Benign
9	128239413	G	C	G128239413C	DNM1	NM_004408.4(DNM1):c.1423-32G>C	noncoding	Benign
9	128239437	C	A	C128239437A	DNM1	NM_004408.4(DNM1):c.1423-8C>A	noncoding	Benign
9	128239459	C	T	C128239459T	DNM1	NM_004408.4(DNM1):c.1437C>T:p.Ile479=	coding	Benign/Likely_benign
9	128239806	G	A	G128239806A	DNM1	NM_004408.4(DNM1):c.1545+27G>A	noncoding	Benign
9	128240220	C	T	C128240220T	DNM1	NM_004408.4(DNM1):c.1557+224C>T	noncoding	Benign
9	128241917	A	G	A128241917G	DNM1	NM_004408.4(DNM1):c.1558-315A>G	noncoding	Benign
9	128242229	C	T	C128242229T	DNM1	NM_004408.4(DNM1):c.1558-3C>T	coding	Benign/Likely_benign
9	128242336	G	A	G128242336A	DNM1	NM_004408.4(DNM1):c.1662G>A:p.Lys554=	coding	Benign
9	128242586	C	T	C128242586T	DNM1	NM_004408.4(DNM1):c.1671+241C>T	noncoding	Benign
9	128242587	C	T	C128242587T	DNM1	NM_004408.4(DNM1):c.1671+242C>T	noncoding	Benign
9	128246486	C	T	C128246486T	DNM1	NM_004408.4(DNM1):c.1764C>T:p.Leu588=	coding	Benign
9	128247110	T	A	T128247110A	DNM1	NM_004408.4(DNM1):c.1782-265T>A	noncoding	Benign
9	128247366	A	G	A128247366G	DNM1	NM_004408.4(DNM1):c.1782-9A>G	noncoding	Benign/Likely_benign
9	128247482	T	C	T128247482C	DNM1	NM_004408.4(DNM1):c.1889T>C:p.Val630Ala	coding	Benign
9	128247906	G	T	G128247906T	DNM1	NM_004408.4(DNM1):c.1894-18G>T	noncoding	Benign/Likely_benign
9	128247952	C	T	C128247952T	DNM1	NM_004408.4(DNM1):c.1905+17C>T	noncoding	Benign/Likely_benign
9	128248566	T	C	T128248566C	DNM1	NM_004408.4(DNM1):c.1906-17T>C	noncoding	Benign
9	128248577	T	C	T128248577C	DNM1	NM_004408.4(DNM1):c.1906-6T>C	noncoding	Benign/Likely_benign
9	128248610	G	A	G128248610A	DNM1	NM_004408.4(DNM1):c.1933G>A:p.Asp645Asn	coding	Benign
9	128249977	T	C	T128249977C	DNM1	NM_004408.4(DNM1):c.2077-138T>C	noncoding	Benign
9	128250194	C	G	C128250194G	DNM1	NM_004408.4(DNM1):c.2156C>G:p.Ala719Gly	coding	Benign
9	128250366	C	T	C128250366T	DNM1	NM_004408.4(DNM1):c.2318+10C>T	noncoding	Benign
9	128250766	C	T	C128250766T	DNM1	NM_004408.4(DNM1):c.2360C>T:p.Ala787Val	coding	Benign
9	128250826	C	G	C128250826G	DNM1	NM_004408.4(DNM1):c.2420C>G:p.Ser807Cys	coding	Benign/Likely_benign
9	128253000	G	A	G128253000A	DNM1	NM_004408.4(DNM1):c.2535-1654G>A	noncoding	Benign
9	128253050	G	T	G128253050T	DNM1	NM_004408.4(DNM1):c.2535-1604G>T	noncoding	Benign
9	128254659	C	T	C128254659T	DNM1	NM_004408.4(DNM1):c.2540C>T:p.Ser847Leu	coding	Benign/Likely_benign
9	128254660	G	A	G128254660A	DNM1	NM_004408.4(DNM1):c.2541G>A:p.Ser847=	coding	Benign
9	128258143	C	T	C128258143T	GOLGA2	NM_004486.5(GOLGA2):c.2228G>A:p.Arg743His	coding	Benign
9	128260497	G	C	G128260497C	GOLGA2	NM_004486.5(GOLGA2):c.1609C>G:p.Leu537Val	coding	Benign
9	128309643	C	T	C128309643T	TRUB2	NM_015679.3(TRUB2):c.903G>A:p.Gly301=	coding	Benign
9	128322834	C	T	C128322834T	COQ4	NM_016035.4(COQ4):c.-25C>T	noncoding	Benign
9	128322906	G	C	G128322906C	COQ4	NM_016035.5(COQ4):c.48G>C:p.Pro16=	coding	Benign/Likely_benign
9	128322917	G	A	G128322917A	COQ4	NM_016035.5(COQ4):c.59G>A:p.Arg20Gln	coding	Benign
9	128323041	C	A	C128323041A	COQ4	NM_016035.5(COQ4):c.96C>A:p.Asp32Glu	coding	Benign
9	128323100	T	C	T128323100C	COQ4	NM_016035.5(COQ4):c.155T>C:p.Leu52Ser	coding	Pathogenic
9	128323135	C	T	C128323135T	COQ4	NM_016035.5(COQ4):c.190C>T:p.Pro64Ser	coding	Pathogenic
9	128323345	G	T	G128323345T	COQ4	NM_016035.5(COQ4):c.202+198G>T	noncoding	Benign
9	128325296	C	G	C128325296G	COQ4	NM_016035.5(COQ4):c.299+57C>G	noncoding	Benign
9	128325428	C	T	C128325428T	COQ4	NM_016035.5(COQ4):c.299+189C>T	noncoding	Benign
9	128325728	G	A	G128325728A	COQ4	NM_016035.5(COQ4):c.300-51G>A	noncoding	Benign
9	128325797	G	A	G128325797A	COQ4	NM_016035.5(COQ4):c.318G>A:p.Ser106=	coding	Benign
9	128325850	G	T	G128325850T	COQ4	NM_016035.5(COQ4):c.371G>T:p.Gly124Val	coding	Pathogenic
9	128325882	G	C	G128325882C	COQ4	NM_016035.5(COQ4):c.402+1G>C	coding	Pathogenic
9	128326185	C	T	C128326185T	COQ4	NM_016035.5(COQ4):c.402+304C>T	noncoding	Benign
9	128332171	C	T	C128332171T	COQ4	NM_016035.5(COQ4):c.421C>T:p.Arg141Ter	coding	Pathogenic
9	128332174	G	A	G128332174A	COQ4	NM_016035.5(COQ4):c.424G>A:p.Ala142Thr	coding	Benign
9	128332183	C	G	C128332183G	COQ4	NM_016035.5(COQ4):c.433C>G:p.Arg145Gly	coding	Pathogenic
9	128332219	C	A	C128332219A	COQ4	NM_016035.5(COQ4):c.469C>A:p.Gln157Lys	coding	Pathogenic/Likely_pathogenic
9	128332233	G	C	G128332233C	COQ4	NM_016035.5(COQ4):c.483G>C:p.Glu161Asp	coding	Benign/Likely_benign
9	128332833	A	C	A128332833C	COQ4	NM_016035.5(COQ4):c.533-17A>C	noncoding	Benign
9	128332931	G	A	G128332931A	COQ4	NM_016035.5(COQ4):c.614G>A:p.Arg205Gln	coding	Benign/Likely_benign
9	128333053	C	T	C128333053T	COQ4	NM_016035.5(COQ4):c.626+110C>T	noncoding	Benign
9	128333565	C	T	C128333565T	COQ4	NM_016035.5(COQ4):c.718C>T:p.Arg240Cys	coding	Pathogenic/Likely_pathogenic
9	128345160	G	T	G128345160T	SLC27A4	NM_005094.4(SLC27A4):c.167G>T:p.Gly56Val	coding	Benign
9	128345267	G	A	G128345267A	SLC27A4	NM_005094.4(SLC27A4):c.274G>A:p.Ala92Thr	coding	Pathogenic
9	128345404	T	C	T128345404C	SLC27A4	NM_005094.4(SLC27A4):c.411T>C:p.Asn137=	coding	Benign
9	128345485	T	C	T128345485C	SLC27A4	NM_005094.4(SLC27A4):c.492T>C:p.Ala164=	coding	Benign
9	128345497	C	A	C128345497A	SLC27A4	NM_005094.4(SLC27A4):c.504C>A:p.Cys168Ter	coding	Pathogenic
9	128345551	T	G	T128345551G	SLC27A4	NM_005094.4(SLC27A4):c.556+2T>G	noncoding	Pathogenic
9	128350311	G	A	G128350311A	SLC27A4	NM_005094.4(SLC27A4):c.716-1G>A	noncoding	Pathogenic
9	128350335	T	C	T128350335C	SLC27A4	NM_005094.4(SLC27A4):c.739T>C:p.Ser247Pro	coding	Pathogenic
9	128350388	G	A	G128350388A	SLC27A4	NM_005094.4(SLC27A4):c.785+7G>A	noncoding	Benign
9	128352659	A	G	A128352659G	SLC27A4	NM_005094.4(SLC27A4):c.899A>G:p.Gln300Arg	coding	Pathogenic
9	128353020	C	T	C128353020T	SLC27A4	NM_005094.4(SLC27A4):c.988-5C>T	noncoding	Benign
9	128353023	A	G	A128353023G	SLC27A4	NM_005094.4(SLC27A4):c.988-2A>G	noncoding	Pathogenic
9	128353072	A	G	A128353072G	SLC27A4	NM_005094.4(SLC27A4):c.1035A>G:p.Pro345=	coding	Benign
9	128355175	C	T	C128355175T	SLC27A4	NM_005094.4(SLC27A4):c.1447C>T:p.Gln483Ter	coding	Pathogenic
9	128355480	C	T	C128355480T	SLC27A4	NM_005094.4(SLC27A4):c.1545C>T:p.Asn515=	coding	Benign
9	128355770	G	A	G128355770A	SLC27A4	NM_005094.4(SLC27A4):c.1748G>A:p.Arg583His	coding	Pathogenic
9	128355796	G	A	G128355796A	SLC27A4	NM_005094.4(SLC27A4):c.1774G>A:p.Gly592Arg	coding	Pathogenic
9	128498529	C	G	C128498529G	ODF2	NM_002540.5(ODF2):c.2057C>G:p.Thr686Ser	coding	Benign
9	128509017	C	T	C128509017T	GLE1	NM_001003722.2(GLE1):c.241C>T:p.Gln81Ter	coding	Pathogenic
9	128522658	A	G	A128522658G	GLE1	NM_001499.2(GLE1):c.433-10A>G	noncoding	Pathogenic
9	128522679	G	A	G128522679A	GLE1	NM_001003722.2(GLE1):c.444G>A:p.Arg148=	coding	Benign
9	128523676	A	G	A128523676G	GLE1	NM_001499.2(GLE1):c.727A>G:p.Ile243Val	coding	Benign
9	128523793	C	T	C128523793T	GLE1	NM_001003722.2(GLE1):c.844C>T:p.Arg282Ter	coding	Pathogenic
9	128525240	C	A	C128525240A	GLE1	NM_001003722.2(GLE1):c.946C>A:p.Arg316=	coding	Benign
9	128525294	G	A	G128525294A	GLE1	NM_001499.2(GLE1):c.1000G>A:p.Glu334Lys	coding	Benign
9	128525414	C	T	C128525414T	GLE1	NM_001003722.2(GLE1):c.1120C>T:p.Gln374Ter	coding	Pathogenic
9	128527321	G	T	G128527321T	GLE1	NM_001499.2(GLE1):c.1242+30G>T	noncoding	Benign
9	128536311	A	G	A128536311G	GLE1	NM_001499.2(GLE1):c.1647-44A>G	noncoding	Benign
9	128536439	C	T	C128536439T	GLE1	NM_001003722.2(GLE1):c.1731C>T:p.Tyr577=	coding	Benign
9	128536458	C	T	C128536458T	GLE1	NM_001499.2(GLE1):c.1750C>T:p.Arg584Trp	coding	Pathogenic
9	128536476	C	T	C128536476T	GLE1	NM_001003722.2(GLE1):c.1768C>T:p.Arg590Ter	coding	Pathogenic
9	128538058	G	A	G128538058A	GLE1	NM_001499.2(GLE1):c.1849G>A:p.Val617Met	coding	Pathogenic
9	128539614	A	G	A128539614G	GLE1	NM_001499.2(GLE1):c.1882-2A>G	noncoding	Pathogenic
9	128541124	T	C	T128541124C	GLE1	NM_001003722.1(GLE1):c.2051T>C:p.Ile684Thr	coding	Pathogenic
9	128541243	G	A	G128541243A	GLE1	NM_001003722.1(GLE1):c.*73G>A	noncoding	Benign
9	128541351	C	A	C128541351A	GLE1	NM_001003722.1(GLE1):c.*181C>A	noncoding	Benign
9	128541557	C	G	C128541557G	GLE1	NM_001003722.1(GLE1):c.*387C>G	noncoding	Benign
9	128542077	G	C	G128542077C	GLE1	NM_001003722.1(GLE1):c.*907G>C	noncoding	Benign
9	128542175	T	C	T128542175C	GLE1	NM_001003722.1(GLE1):c.*1005T>C	noncoding	Benign
9	128566987	A	G	A128566987G	SPTAN1	NM_001130438.3(SPTAN1):c.237+10A>G	noncoding	Benign
9	128569041	C	T	C128569041T	SPTAN1	NM_001130438.3(SPTAN1):c.363+144C>T	noncoding	Benign
9	128569171	A	G	A128569171G	SPTAN1	NM_001130438.3(SPTAN1):c.363+274A>G	noncoding	Benign
9	128574724	T	C	T128574724C	SPTAN1	NM_001130438.3(SPTAN1):c.413T>C:p.Met138Thr	coding	Benign/Likely_benign
9	128575110	C	T	C128575110T	SPTAN1	NM_001130438.3(SPTAN1):c.505-89C>T	noncoding	Benign
9	128575564	A	G	A128575564G	SPTAN1	NM_001130438.3(SPTAN1):c.651+219A>G	noncoding	Benign
9	128576817	G	A	G128576817A	SPTAN1	NM_001130438.3(SPTAN1):c.652-6G>A	noncoding	Benign
9	128576945	G	A	G128576945A	SPTAN1	NM_001130438.3(SPTAN1):c.774G>A:p.Gln258=	coding	Benign/Likely_benign
9	128576976	T	C	T128576976C	SPTAN1	NM_001130438.3(SPTAN1):c.785+20T>C	noncoding	Benign
9	128577290	G	A	G128577290A	SPTAN1	NM_001130438.3(SPTAN1):c.930+17G>A	noncoding	Benign
9	128577336	C	T	C128577336T	SPTAN1	NM_001130438.3(SPTAN1):c.931-16C>T	noncoding	Benign
9	128577364	T	C	T128577364C	SPTAN1	NM_001130438.3(SPTAN1):c.943T>C:p.Cys315Arg	coding	Benign/Likely_benign
9	128577400	C	T	C128577400T	SPTAN1	NM_001130438.3(SPTAN1):c.979C>T:p.Leu327=	coding	Benign/Likely_benign
9	128577494	A	G	A128577494G	SPTAN1	NM_001130438.3(SPTAN1):c.1073A>G:p.Asn358Ser	coding	Benign/Likely_benign
9	128578116	A	G	A128578116G	SPTAN1	NM_001130438.3(SPTAN1):c.1092A>G:p.Gln364=	coding	Benign
9	128578256	C	T	C128578256T	SPTAN1	NM_001130438.3(SPTAN1):c.1221+11C>T	noncoding	Benign
9	128578531	T	A	T128578531A	SPTAN1	NM_001130438.3(SPTAN1):c.1221+286T>A	noncoding	Benign
9	128578566	T	C	T128578566C	SPTAN1	NM_001130438.3(SPTAN1):c.1221+321T>C	noncoding	Benign
9	128579363	T	C	T128579363C	SPTAN1	NM_001130438.3(SPTAN1):c.1222-274T>C	noncoding	Benign
9	128579390	G	A	G128579390A	SPTAN1	NM_001130438.3(SPTAN1):c.1222-247G>A	noncoding	Benign
9	128579411	C	G	C128579411G	SPTAN1	NM_001130438.3(SPTAN1):c.1222-226C>G	noncoding	Benign
9	128579657	A	G	A128579657G	SPTAN1	NM_001130438.3(SPTAN1):c.1242A>G:p.Glu414=	coding	Benign/Likely_benign
9	128579718	T	G	T128579718G	SPTAN1	NM_001130438.3(SPTAN1):c.1303T>G:p.Ser435Ala	coding	Benign/Likely_benign
9	128580937	G	A	G128580937A	SPTAN1	NM_001130438.3(SPTAN1):c.1339G>A:p.Glu447Lys	coding	Benign/Likely_benign
9	128580960	G	C	G128580960C	SPTAN1	NM_001130438.3(SPTAN1):c.1362G>C:p.Glu454Asp	coding	Benign/Likely_benign
9	128581073	A	C	A128581073C	SPTAN1	NM_001130438.3(SPTAN1):c.1461+14A>C	noncoding	Benign
9	128581755	T	A	T128581755A	SPTAN1	NM_001130438.3(SPTAN1):c.1462-27T>A	noncoding	Benign
9	128581831	C	T	C128581831T	SPTAN1	NM_001130438.3(SPTAN1):c.1511C>T:p.Ala504Val	coding	Benign/Likely_benign
9	128582733	C	T	C128582733T	SPTAN1	NM_001130438.3(SPTAN1):c.1690C>T:p.Arg564Cys	coding	Benign
9	128582734	G	A	G128582734A	SPTAN1	NM_001130438.3(SPTAN1):c.1691G>A:p.Arg564His	coding	Benign/Likely_benign
9	128582753	C	T	C128582753T	SPTAN1	NM_001130438.3(SPTAN1):c.1710C>T:p.Ala570=	coding	Benign
9	128582780	C	T	C128582780T	SPTAN1	NM_001130438.3(SPTAN1):c.1737C>T:p.Phe579=	coding	Benign/Likely_benign
9	128582812	A	G	A128582812G	SPTAN1	NM_001130438.3(SPTAN1):c.1769A>G:p.Asn590Ser	coding	Benign
9	128583066	T	C	T128583066C	SPTAN1	NM_001130438.3(SPTAN1):c.1807-11T>C	noncoding	Benign
9	128583309	A	G	A128583309G	SPTAN1	NM_001130438.3(SPTAN1):c.2011+28A>G	noncoding	Benign
9	128584269	T	G	T128584269G	SPTAN1	NM_001130438.3(SPTAN1):c.2194-13T>G	noncoding	Benign
9	128584312	C	T	C128584312T	SPTAN1	NM_001130438.3(SPTAN1):c.2224C>T:p.Arg742Cys	coding	Pathogenic
9	128584321	C	A	C128584321A	SPTAN1	NM_001130438.3(SPTAN1):c.2233C>A:p.Gln745Lys	coding	Benign/Likely_benign
9	128584431	C	A	C128584431A	SPTAN1	NM_001130438.3(SPTAN1):c.2343C>A:p.Ala781=	coding	Benign
9	128584432	G	A	G128584432A	SPTAN1	NM_001130438.3(SPTAN1):c.2344G>A:p.Asp782Asn	coding	Benign/Likely_benign
9	128584442	G	A	G128584442A	SPTAN1	NM_001130438.3(SPTAN1):c.2354G>A:p.Arg785Gln	coding	Benign
9	128584890	C	T	C128584890T	SPTAN1	NM_001130438.3(SPTAN1):c.2560+47C>T	noncoding	Benign
9	128585940	A	G	A128585940G	SPTAN1	NM_001130438.3(SPTAN1):c.2753A>G:p.Tyr918Cys	coding	Benign/Likely_benign
9	128585983	G	A	G128585983A	SPTAN1	NM_001130438.3(SPTAN1):c.2778+18G>A	noncoding	Benign
9	128585985	G	A	G128585985A	SPTAN1	NM_001130438.3(SPTAN1):c.2778+20G>A	noncoding	Benign
9	128586161	C	G	C128586161G	SPTAN1	NM_001130438.3(SPTAN1):c.2778+196C>G	noncoding	Benign
9	128586222	G	A	G128586222A	SPTAN1	NM_001130438.3(SPTAN1):c.2778+257G>A	noncoding	Benign
9	128588817	G	A	G128588817A	SPTAN1	NM_001130438.3(SPTAN1):c.2880G>A:p.Val960=	coding	Benign/Likely_benign
9	128589043	G	C	G128589043C	SPTAN1	NM_001130438.3(SPTAN1):c.3006+100G>C	noncoding	Benign
9	128591521	G	A	G128591521A	SPTAN1	NM_001130438.3(SPTAN1):c.3051G>A:p.Pro1017=	coding	Benign
9	128591527	G	A	G128591527A	SPTAN1	NM_001130438.3(SPTAN1):c.3057G>A:p.Ala1019=	coding	Benign/Likely_benign
9	128591565	G	A	G128591565A	SPTAN1	NM_001130438.3(SPTAN1):c.3095G>A:p.Arg1032Gln	coding	Benign
9	128591778	G	C	G128591778C	SPTAN1	NM_001130438.3(SPTAN1):c.3155+153G>C	noncoding	Benign
9	128593013	A	T	A128593013T	SPTAN1	NM_001130438.3(SPTAN1):c.3186A>T:p.Val1062=	coding	Benign
9	128594179	C	A	C128594179A	SPTAN1	NM_001130438.3(SPTAN1):c.3220C>A:p.His1074Asn	coding	Benign
9	128594259	G	A	G128594259A	SPTAN1	NM_001130438.3(SPTAN1):c.3300G>A:p.Ala1100=	coding	Benign
9	128594296	G	A	G128594296A	SPTAN1	NM_001130438.3(SPTAN1):c.3337G>A:p.Ala1113Thr	coding	Benign/Likely_benign
9	128598471	C	G	C128598471G	SPTAN1	NM_001130438.3(SPTAN1):c.3486C>G:p.Leu1162=	coding	Benign
9	128598471	C	T	C128598471T	SPTAN1	NM_001130438.3(SPTAN1):c.3486C>T:p.Leu1162=	coding	Benign
9	128598754	A	G	A128598754G	SPTAN1	NM_001130438.3(SPTAN1):c.3520-209A>G	noncoding	Benign
9	128598870	A	G	A128598870G	SPTAN1	NM_001130438.3(SPTAN1):c.3520-93A>G	noncoding	Benign
9	128598944	T	G	T128598944G	SPTAN1	NM_001130438.3(SPTAN1):c.3520-19T>G	noncoding	Benign
9	128598949	C	G	C128598949G	SPTAN1	NM_001130438.3(SPTAN1):c.3520-14C>G	noncoding	Benign/Likely_benign
9	128598979	T	C	T128598979C	SPTAN1	NM_001130438.3(SPTAN1):c.3536T>C:p.Met1179Thr	coding	Benign
9	128600082	T	C	T128600082C	SPTAN1	NM_001130438.3(SPTAN1):c.3546T>C:p.Asp1182=	coding	Benign
9	128600340	C	T	C128600340T	SPTAN1	NM_001130438.3(SPTAN1):c.3579+225C>T	noncoding	Benign
9	128603264	C	G	C128603264G	SPTAN1	NM_001130438.3(SPTAN1):c.3580-279C>G	noncoding	Benign
9	128603791	G	A	G128603791A	SPTAN1	NM_001130438.3(SPTAN1):c.3627+201G>A	noncoding	Benign
9	128603902	C	T	C128603902T	SPTAN1	NM_001130438.3(SPTAN1):c.3627+312C>T	noncoding	Benign
9	128605029	T	G	T128605029G	SPTAN1	NM_001130438.3(SPTAN1):c.3720-5T>G	noncoding	Benign/Likely_benign
9	128605076	A	G	A128605076G	SPTAN1	NM_001130438.3(SPTAN1):c.3762A>G:p.Gln1254=	coding	Benign/Likely_benign
9	128605163	G	A	G128605163A	SPTAN1	NM_001130438.3(SPTAN1):c.3849G>A:p.Ala1283=	coding	Benign
9	128605343	C	T	C128605343T	SPTAN1	NM_001130438.3(SPTAN1):c.3912C>T:p.Pro1304=	coding	Benign/Likely_benign
9	128605481	C	T	C128605481T	SPTAN1	NM_001130438.3(SPTAN1):c.4046+4C>T	noncoding	Benign
9	128605483	G	A	G128605483A	SPTAN1	NM_001130438.3(SPTAN1):c.4046+6G>A	noncoding	Benign
9	128607590	G	T	G128607590T	SPTAN1	NM_001130438.3(SPTAN1):c.4047-14G>T	noncoding	Benign
9	128607673	C	T	C128607673T	SPTAN1	NM_001130438.3(SPTAN1):c.4116C>T:p.Thr1372=	coding	Benign/Likely_benign
9	128607893	G	A	G128607893A	SPTAN1	NM_001130438.3(SPTAN1):c.4188G>A:p.Gln1396=	coding	Benign/Likely_benign
9	128607929	C	T	C128607929T	SPTAN1	NM_001130438.3(SPTAN1):c.4224C>T:p.His1408=	coding	Benign/Likely_benign
9	128607965	T	G	T128607965G	SPTAN1	NM_001130438.3(SPTAN1):c.4260T>G:p.Leu1420=	coding	Benign/Likely_benign
9	128608195	C	T	C128608195T	SPTAN1	NM_001130438.3(SPTAN1):c.4410C>T:p.Thr1470=	coding	Benign
9	128608565	G	A	G128608565A	SPTAN1	NM_001130438.3(SPTAN1):c.4491+289G>A	noncoding	Benign
9	128608918	C	T	C128608918T	SPTAN1	NM_001130438.3(SPTAN1):c.4536C>T:p.Ile1512=	coding	Benign/Likely_benign
9	128608922	G	A	G128608922A	SPTAN1	NM_001130438.3(SPTAN1):c.4540G>A:p.Ala1514Thr	coding	Benign/Likely_benign
9	128608933	T	C	T128608933C	SPTAN1	NM_001130438.3(SPTAN1):c.4551T>C:p.Tyr1517=	coding	Benign/Likely_benign
9	128608981	G	T	G128608981T	SPTAN1	NM_001130438.3(SPTAN1):c.4595+4G>T	noncoding	Benign
9	128609678	T	A	T128609678A	SPTAN1	NM_001130438.3(SPTAN1):c.4773+13T>A	noncoding	Benign
9	128611491	A	G	A128611491G	SPTAN1	NM_001130438.3(SPTAN1):c.4774-223A>G	noncoding	Benign
9	128611753	C	T	C128611753T	SPTAN1	NM_001130438.3(SPTAN1):c.4813C>T:p.His1605Tyr	coding	Pathogenic
9	128611792	G	A	G128611792A	SPTAN1	NM_001130438.3(SPTAN1):c.4852G>A:p.Gly1618Ser	coding	Pathogenic
9	128611865	G	A	G128611865A	SPTAN1	NM_001130438.3(SPTAN1):c.4905+20G>A	noncoding	Benign
9	128612222	G	A	G128612222A	SPTAN1	NM_001130438.3(SPTAN1):c.5019G>A:p.Lys1673=	coding	Benign
9	128613105	G	T	G128613105T	SPTAN1	NM_001130438.3(SPTAN1):c.5044-276G>T	noncoding	Benign
9	128613377	C	T	C128613377T	SPTAN1	NM_001130438.3(SPTAN1):c.5044-4C>T	noncoding	Benign/Likely_benign
9	128615719	A	G	A128615719G	SPTAN1	NM_001130438.3(SPTAN1):c.5236A>G:p.Thr1746Ala	coding	Benign
9	128615823	C	T	C128615823T	SPTAN1	NM_001130438.3(SPTAN1):c.5340C>T:p.Asp1780=	coding	Benign
9	128617426	C	T	C128617426T	SPTAN1	NM_001130438.3(SPTAN1):c.5358-214C>T	noncoding	Benign
9	128617624	C	T	C128617624T	SPTAN1	NM_001130438.3(SPTAN1):c.5358-16C>T	noncoding	Benign
9	128617688	C	G	C128617688G	SPTAN1	NM_001130438.3(SPTAN1):c.5406C>G:p.Thr1802=	coding	Benign
9	128617688	C	T	C128617688T	SPTAN1	NM_001130438.3(SPTAN1):c.5406C>T:p.Thr1802=	coding	Benign
9	128617697	G	A	G128617697A	SPTAN1	NM_001130438.3(SPTAN1):c.5415G>A:p.Gln1805=	coding	Benign/Likely_benign
9	128617719	C	A	C128617719A	SPTAN1	NM_001130438.3(SPTAN1):c.5437C>A:p.Arg1813=	coding	Benign
9	128617742	G	A	G128617742A	SPTAN1	NM_001130438.3(SPTAN1):c.5460G>A:p.Ala1820=	coding	Benign/Likely_benign
9	128617870	C	G	C128617870G	SPTAN1	NM_001130438.3(SPTAN1):c.5478+110C>G	noncoding	Benign
9	128617946	A	C	A128617946C	SPTAN1	NM_001130438.3(SPTAN1):c.5479-41A>C	noncoding	Benign
9	128618031	C	T	C128618031T	SPTAN1	NM_001130438.3(SPTAN1):c.5523C>T:p.Ile1841=	coding	Benign/Likely_benign
9	128618060	C	T	C128618060T	SPTAN1	NM_001130438.3(SPTAN1):c.5552C>T:p.Ala1851Val	coding	Benign
9	128621199	C	T	C128621199T	SPTAN1	NM_001130438.3(SPTAN1):c.5775C>T:p.Thr1925=	coding	Benign/Likely_benign
9	128621214	C	T	C128621214T	SPTAN1	NM_001130438.3(SPTAN1):c.5790C>T:p.Arg1930=	coding	Benign/Likely_benign
9	128624376	G	A	G128624376A	SPTAN1	NM_001130438.3(SPTAN1):c.5881G>A:p.Gly1961Arg	coding	Benign
9	128624420	G	A	G128624420A	SPTAN1	NM_001130438.3(SPTAN1):c.5925G>A:p.Ala1975=	coding	Benign
9	128625152	T	G	T128625152G	SPTAN1	NM_001130438.3(SPTAN1):c.6042T>G:p.Ser2014=	coding	Benign/Likely_benign
9	128625780	C	T	C128625780T	SPTAN1	NM_001130438.3(SPTAN1):c.6081C>T:p.Asp2027=	coding	Benign/Likely_benign
9	128625810	C	T	C128625810T	SPTAN1	NM_001130438.3(SPTAN1):c.6111C>T:p.Gly2037=	coding	Benign/Likely_benign
9	128625858	C	T	C128625858T	SPTAN1	NM_001130438.3(SPTAN1):c.6159C>T:p.His2053=	coding	Benign
9	128625882	C	T	C128625882T	SPTAN1	NM_001130438.3(SPTAN1):c.6183C>T:p.Ala2061=	coding	Benign/Likely_benign
9	128625889	G	A	G128625889A	SPTAN1	NM_001130438.3(SPTAN1):c.6190G>A:p.Ala2064Thr	coding	Benign/Likely_benign
9	128626364	C	T	C128626364T	SPTAN1	NM_001130438.3(SPTAN1):c.6280-27C>T	noncoding	Benign
9	128626386	T	A	T128626386A	SPTAN1	NM_001130438.3(SPTAN1):c.6280-5T>A	noncoding	Benign
9	128626528	C	T	C128626528T	SPTAN1	NM_001130438.3(SPTAN1):c.6417C>T:p.Asp2139=	coding	Benign/Likely_benign
9	128626660	C	A	C128626660A	SPTAN1	NM_001130438.3(SPTAN1):c.6549C>A:p.Thr2183=	coding	Benign
9	128626936	T	C	T128626936C	SPTAN1	NM_001130438.3(SPTAN1):c.6576+249T>C	noncoding	Benign
9	128627265	C	T	C128627265T	SPTAN1	NM_001130438.3(SPTAN1):c.6577-121C>T	noncoding	Benign
9	128627417	G	A	G128627417A	SPTAN1	NM_001130438.3(SPTAN1):c.6608G>A:p.Arg2203Gln	coding	Benign/Likely_benign
9	128627469	C	T	C128627469T	SPTAN1	NM_001130438.3(SPTAN1):c.6660C>T:p.Asn2220=	coding	Benign/Likely_benign
9	128627470	G	A	G128627470A	SPTAN1	NM_001130438.3(SPTAN1):c.6661G>A:p.Ala2221Thr	coding	Benign
9	128627515	G	A	G128627515A	SPTAN1	NM_001130438.3(SPTAN1):c.6689+17G>A	noncoding	Benign
9	128628060	A	G	A128628060G	SPTAN1	NM_001130438.3(SPTAN1):c.6707+118A>G	noncoding	Benign
9	128628081	G	A	G128628081A	SPTAN1	NM_001130438.3(SPTAN1):c.6707+139G>A	noncoding	Benign
9	128628162	G	A	G128628162A	SPTAN1	NM_001130438.3(SPTAN1):c.6707+220G>A	noncoding	Benign
9	128628193	C	A	C128628193A	SPTAN1	NM_001130438.3(SPTAN1):c.6707+251C>A	noncoding	Benign
9	128630077	C	T	C128630077T	SPTAN1	NM_001130438.3(SPTAN1):c.6708-244C>T	noncoding	Benign
9	128630314	C	T	C128630314T	SPTAN1	NM_001130438.3(SPTAN1):c.6708-7C>T	noncoding	Benign
9	128630385	C	A	C128630385A	SPTAN1	NM_001130438.3(SPTAN1):c.6762+10C>A	noncoding	Benign
9	128632175	G	A	G128632175A	SPTAN1	NM_001130438.3(SPTAN1):c.6811G>A:p.Glu2271Lys	coding	Pathogenic
9	128632190	G	A	G128632190A	SPTAN1	NM_001130438.3(SPTAN1):c.6826G>A:p.Ala2276Thr	coding	Benign
9	128632218	A	G	A128632218G	SPTAN1	NM_001130438.3(SPTAN1):c.6854A>G:p.Asn2285Ser	coding	Pathogenic
9	128632423	T	C	T128632423C	SPTAN1	NM_001130438.3(SPTAN1):c.6960-8T>C	noncoding	Benign
9	128632648	C	T	C128632648T	SPTAN1	NM_001130438.3(SPTAN1):c.7090C>T:p.Leu2364=	coding	Benign/Likely_benign
9	128632704	G	A	G128632704A	SPTAN1	NM_001130438.3(SPTAN1):c.7146G>A:p.Thr2382=	coding	Benign/Likely_benign
9	128632724	T	C	T128632724C	SPTAN1	NM_001130438.3(SPTAN1):c.7160+6T>C	noncoding	Benign
9	128632799	C	G	C128632799G	SPTAN1	NM_001130438.3(SPTAN1):c.7161-9C>G	noncoding	Benign
9	128632931	C	T	C128632931T	SPTAN1	NM_001130438.3(SPTAN1):c.7284C>T:p.Tyr2428=	coding	Benign/Likely_benign
9	128633219	G	A	G128633219A	SPTAN1	NM_001130438.3(SPTAN1):c.7319G>A:p.Arg2440Gln	coding	Benign/Likely_benign
9	128633259	C	T	C128633259T	SPTAN1	NM_001130438.3(SPTAN1):c.7359C>T:p.Tyr2453=	coding	Benign/Likely_benign
9	128633265	C	T	C128633265T	SPTAN1	NM_001130438.3(SPTAN1):c.7365C>T:p.Asp2455=	coding	Benign/Likely_benign
9	128633266	G	A	G128633266A	SPTAN1	NM_001130438.3(SPTAN1):c.7366G>A:p.Gly2456Ser	coding	Benign/Likely_benign
9	128633289	C	T	C128633289T	SPTAN1	NM_001130438.3(SPTAN1):c.7389C>T:p.Thr2463=	coding	Benign
9	128633292	G	A	G128633292A	SPTAN1	NM_001130438.3(SPTAN1):c.7392G>A:p.Ala2464=	coding	Benign/Likely_benign
9	128633296	G	A	G128633296A	SPTAN1	NM_001130438.3(SPTAN1):c.7396G>A:p.Asp2466Asn	coding	Benign/Likely_benign
9	128633315	G	A	G128633315A	SPTAN1	NM_001130438.3(SPTAN1):c.7415G>A:p.Arg2472His	coding	Benign
9	128633319	G	A	G128633319A	SPTAN1	NM_001130438.3(SPTAN1):c.7419G>A:p.Ser2473=	coding	Benign/Likely_benign
9	128633875	G	A	G128633875A	DYNC2I2	NM_052844.3(DYNC2I2):c.1480C>T:p.Gln494Ter	coding	Pathogenic
9	128633958	T	G	T128633958G	DYNC2I2	NM_052844.3(DYNC2I2):c.1397A>C:p.Gln466Pro	coding	Pathogenic
9	128633987	A	C	A128633987C	DYNC2I2	NM_052844.3(DYNC2I2):c.1373-5T>G	noncoding	Benign
9	128634248	A	T	A128634248T	DYNC2I2	NM_052844.3(DYNC2I2):c.1350T>A:p.Val450=	coding	Benign
9	128634258	C	T	C128634258T	DYNC2I2	NM_052844.3(DYNC2I2):c.1340G>A:p.Arg447Gln	coding	Pathogenic
9	128634259	G	A	G128634259A	DYNC2I2	NM_052844.3(DYNC2I2):c.1339C>T:p.Arg447Trp	coding	Pathogenic
9	128634291	T	C	T128634291C	DYNC2I2	NM_052844.3(DYNC2I2):c.1307A>G:p.Lys436Arg	coding	Pathogenic
9	128634787	C	T	C128634787T	DYNC2I2	NM_052844.3(DYNC2I2):c.1116G>A:p.Thr372=	coding	Benign
9	128634837	C	T	C128634837T	DYNC2I2	NM_052844.3(DYNC2I2):c.1066G>A:p.Gly356Ser	coding	Benign
9	128634842	G	A	G128634842A	DYNC2I2	NM_052844.3(DYNC2I2):c.1061C>T:p.Thr354Met	coding	Pathogenic
9	128634843	T	C	T128634843C	DYNC2I2	NM_052844.3(DYNC2I2):c.1060A>G:p.Thr354Ala	coding	Pathogenic
9	128634881	G	A	G128634881A	DYNC2I2	NM_052844.3(DYNC2I2):c.1022C>T:p.Ala341Val	coding	Pathogenic
9	128634895	G	A	G128634895A	DYNC2I2	NM_052844.3(DYNC2I2):c.1008C>T:p.Gly336=	coding	Benign
9	128634923	T	G	T128634923G	DYNC2I2	NM_052844.3(DYNC2I2):c.982-2A>C	noncoding	Pathogenic
9	128635116	C	T	C128635116T	DYNC2I2	NM_052844.3(DYNC2I2):c.957G>A:p.Leu319=	coding	Benign
9	128635138	A	G	A128635138G	DYNC2I2	NM_052844.3(DYNC2I2):c.935T>C:p.Phe312Ser	coding	Pathogenic
9	128635185	T	C	T128635185C	DYNC2I2	NM_052844.3(DYNC2I2):c.888A>G:p.Leu296=	coding	Benign
9	128635200	G	A	G128635200A	DYNC2I2	NM_052844.3(DYNC2I2):c.873C>T:p.Thr291=	coding	Benign
9	128636354	C	T	C128636354T	DYNC2I2	NM_052844.3(DYNC2I2):c.630G>A:p.Pro210=	coding	Benign
9	128636357	C	T	C128636357T	DYNC2I2	NM_052844.3(DYNC2I2):c.627G>A:p.Gln209=	coding	Benign
9	128636368	G	A	G128636368A	DYNC2I2	NM_052844.3(DYNC2I2):c.616C>T:p.Arg206Cys	coding	Benign
9	128636919	G	A	G128636919A	DYNC2I2	NM_052844.3(DYNC2I2):c.544C>T:p.Arg182Trp	coding	Pathogenic
9	128636991	G	A	G128636991A	DYNC2I2	NM_052844.3(DYNC2I2):c.472C>T:p.Gln158Ter	coding	Pathogenic
9	128640817	A	G	A128640817G	DYNC2I2	NM_052844.3(DYNC2I2):c.309T>C:p.Tyr103=	coding	Benign
9	128640942	G	T	G128640942T	DYNC2I2	NM_052844.3(DYNC2I2):c.187-3C>A	noncoding	Benign
9	128656549	A	C	A128656549C	DYNC2I2	NM_052844.3(DYNC2I2):c.178T>G:p.Trp60Gly	coding	Benign
9	128656662	G	A	G128656662A	DYNC2I2	NM_052844.3(DYNC2I2):c.65C>T:p.Ala22Val	coding	Benign
9	128683961	G	T	G128683961T	SET	NM_001122821.2(SET):c.66G>T:p.Leu22=	coding	Benign
9	128691970	T	G	T128691970G	SET	NM_003011.4(SET):c.244T>G:p.Trp82Gly	coding	Pathogenic
9	128692656	G	A	G128692656A	SET	NM_003011.4(SET):c.275-6G>A	noncoding	Benign
9	128692700	C	T	C128692700T	SET	NM_003011.4(SET):c.313C>T:p.His105Tyr	coding	Pathogenic
9	128822370	C	T	C128822370T	ENDOG	NM_004435.2(ENDOG):c.654C>T:p.Ile218=	coding	Benign
9	128822450	G	T	G128822450T	ENDOG	NM_004435.2(ENDOG):c.734G>T:p.Arg245Leu	coding	Benign
9	128822453	C	T	C128822453T	ENDOG	NM_004435.2(ENDOG):c.737C>T:p.Thr246Ile	coding	Benign
9	128828754	C	T	C128828754T	SPOUT1	NM_016390.4(SPOUT1):c.189G>A:p.Ala63=	coding	Benign
9	128847452	G	A	G128847452A	KYAT1	NM_004059.5(KYAT1):c.-6-2041C>T	coding	Benign
9	128907215	C	T	C128907215T	LRRC8A	NM_019594.3(LRRC8A):c.51C>T:p.Tyr17=	coding	Benign
9	128907281	C	T	C128907281T	LRRC8A	NM_019594.3(LRRC8A):c.117C>T:p.Ala39=	coding	Benign
9	128907488	C	T	C128907488T	LRRC8A	NM_019594.3(LRRC8A):c.324C>T:p.Tyr108=	coding	Benign
9	128907938	C	T	C128907938T	LRRC8A	NM_019594.3(LRRC8A):c.774C>T:p.Asp258=	coding	Benign
9	128908019	C	T	C128908019T	LRRC8A	NM_019594.3(LRRC8A):c.855C>T:p.Tyr285=	coding	Benign
9	128908160	C	T	C128908160T	LRRC8A	NM_019594.3(LRRC8A):c.996C>T:p.Tyr332=	coding	Benign
9	128908178	T	C	T128908178C	LRRC8A	NM_019594.4(LRRC8A):c.1014T>C:p.Tyr338=	coding	Benign
9	128908535	C	T	C128908535T	LRRC8A	NM_019594.3(LRRC8A):c.1371C>T:p.Pro457=	coding	Benign
9	128908622	C	T	C128908622T	LRRC8A	NM_019594.3(LRRC8A):c.1458C>T:p.Pro486=	coding	Benign
9	128908640	T	C	T128908640C	LRRC8A	NM_019594.4(LRRC8A):c.1476T>C:p.Arg492=	coding	Benign
9	128908673	C	T	C128908673T	LRRC8A	NM_019594.3(LRRC8A):c.1509C>T:p.Thr503=	coding	Benign
9	128908770	G	A	G128908770A	LRRC8A	NM_019594.3(LRRC8A):c.1606G>A:p.Val536Ile	coding	Benign
9	128908952	G	A	G128908952A	LRRC8A	NM_019594.3(LRRC8A):c.1788G>A:p.Leu596=	coding	Benign
9	128908967	T	C	T128908967C	LRRC8A	NM_019594.3(LRRC8A):c.1803T>C:p.Cys601=	coding	Benign
9	128909159	G	A	G128909159A	LRRC8A	NM_019594.3(LRRC8A):c.1995G>A:p.Glu665=	coding	Benign
9	128909282	C	G	C128909282G	LRRC8A	NM_019594.3(LRRC8A):c.2118C>G:p.Leu706=	coding	Benign
9	128945854	T	C	T128945854C	DOLK	NM_014908.4(DOLK):c.1450A>G:p.Ile484Val	coding	Benign/Likely_benign
9	128945857	G	T	G128945857T	DOLK	NM_014908.3(DOLK):c.1447C>A:p.Gln483Lys	coding	Pathogenic
9	128945982	T	G	T128945982G	DOLK	NM_014908.3(DOLK):c.1322A>C:p.Tyr441Ser	coding	Pathogenic
9	128946082	G	C	G128946082C	DOLK	NM_014908.3(DOLK):c.1222C>G:p.His408Asp	coding	Pathogenic
9	128946392	C	A	C128946392A	DOLK	NM_014908.3(DOLK):c.912G>T:p.Trp304Cys	coding	Pathogenic
9	128947009	A	T	A128947009T	DOLK	NM_014908.3(DOLK):c.295T>A:p.Cys99Ser	coding	Pathogenic
9	128947301	C	T	C128947301T	DOLK	NM_014908.3(DOLK):c.3G>A:p.Met1Ile	coding	Pathogenic
9	128947302	A	G	A128947302G	DOLK	NM_014908.3(DOLK):c.2T>C:p.Met1Thr	coding	Pathogenic
9	128947352	T	C	T128947352C	DOLK	NM_014908.3(DOLK):c.-49A>G	noncoding	Benign
9	128947707	C	T	C128947707T	DOLK	NM_015354.3(NUP188):c.-13C>T	noncoding	Benign/Likely_benign
9	128947846	A	G	A128947846G	DOLK	NM_015354.3(NUP188):c.32+95A>G	noncoding	Benign
9	128973216	C	T	C128973216T	NUP188	NM_015354.3(NUP188):c.1170C>T:p.Thr390=	coding	Benign
9	128983479	G	A	G128983479A	NUP188	NM_015354.3(NUP188):c.1890G>A:p.Trp630Ter	coding	Pathogenic
9	128994912	C	G	C128994912G	NUP188	NM_015354.3(NUP188):c.3144C>G:p.Tyr1048Ter	coding	Pathogenic
9	128995349	A	C	A128995349C	NUP188	NM_015354.3(NUP188):c.3186A>C:p.Thr1062=	coding	Benign
9	128999158	A	G	A128999158G	NUP188	NM_015354.3(NUP188):c.3516-14A>G	noncoding	Benign
9	128999620	A	G	A128999620G	NUP188	NM_015354.3(NUP188):c.3662-4A>G	noncoding	Benign
9	129001659	G	A	G129001659A	NUP188	NM_015354.3(NUP188):c.3974G>A:p.Arg1325His	coding	Benign
9	129001735	A	C	A129001735C	NUP188	NM_015354.3(NUP188):c.4044+6A>C	noncoding	Benign
9	129001917	C	T	C129001917T	NUP188	NM_015354.3(NUP188):c.4078C>T:p.Gln1360Ter	coding	Pathogenic
9	129005389	A	C	A129005389C	NUP188	NM_015354.3(NUP188):c.4596A>C:p.Ser1532=	coding	Benign
9	129005527	T	G	T129005527G	NUP188	NM_015354.3(NUP188):c.4734T>G:p.Asp1578Glu	coding	Benign
9	129010135	T	A	T129010135A	SH3GLB2	NM_001287045.1(SH3GLB2):c.735A>T:p.Gly245=	coding	Benign
9	129049897	C	T	C129049897T	MIGA2	NM_032809.3(MIGA2):c.801C>T:p.Ser267=	coding	Benign
9	129049921	C	T	C129049921T	MIGA2	NM_032809.3(MIGA2):c.825C>T:p.Asp275=	coding	Benign
9	129100526	G	A	G129100526A	CRAT	NM_000755.5(CRAT):c.969C>T:p.Phe323=	coding	Benign
9	129100533	C	T	C129100533T	CRAT	NM_000755.5(CRAT):c.962G>A:p.Arg321His	coding	Pathogenic/Likely_pathogenic
9	129123135	C	T	C129123135T	PTPA	NM_178000.3(PTPA):c.213C>T:p.Ser71=	coding	Benign
9	129129094	A	G	A129129094G	PTPA	NM_178000.3(PTPA):c.326A>G:p.Tyr109Cys	coding	Benign
9	129134852	G	A	G129134852A	PTPA	NM_178000.3(PTPA):c.518G>A:p.Arg173Gln	coding	Benign
9	129134882	A	C	A129134882C	PTPA	NM_178000.3(PTPA):c.548A>C:p.Lys183Thr	coding	Benign
9	129136522	C	T	C129136522T	PTPA	NM_178000.3(PTPA):c.612C>T:p.Ala204=	coding	Benign
9	129142498	C	T	C129142498T	PTPA	NM_178000.3(PTPA):c.840C>T:p.Ala280=	coding	Benign
9	129177273	G	A	G129177273A	IER5L	NM_203434.3(IER5L):c.780C>T:p.Asp260=	coding	Benign
9	129177372	C	A	C129177372A	IER5L	NM_203434.3(IER5L):c.681G>T:p.Pro227=	coding	Benign
9	129748681	G	A	G129748681A	PTGES	NM_004878.5(PTGES):c.183C>T:p.Ser61=	coding	Benign
9	129748684	C	T	C129748684T	PTGES	NM_004878.5(PTGES):c.180G>A:p.Arg60=	coding	Benign
9	129752993	A	T	A129752993T	PTGES	NM_004878.5(PTGES):c.20T>A:p.Val7Glu	coding	Benign
9	129807253	C	T	C129807253T	TOR1B	NM_014506.3(TOR1B):c.531C>T:p.Asp177=	coding	Benign
9	129812970	G	A	G129812970A	TOR1A	NM_000113.3(TOR1A):c.*1002C>T	noncoding	Benign
9	129813011	A	T	A129813011T	TOR1A	NM_000113.3(TOR1A):c.*961T>A	noncoding	Benign
9	129813024	G	A	G129813024A	TOR1A	NM_000113.3(TOR1A):c.*948C>T	noncoding	Benign
9	129813141	G	A	G129813141A	TOR1A	NM_000113.3(TOR1A):c.*831C>T	noncoding	Benign
9	129813518	A	T	A129813518T	TOR1A	NM_000113.3(TOR1A):c.*454T>A	noncoding	Benign
9	129813556	A	C	A129813556C	TOR1A	NM_000113.3(TOR1A):c.*416T>G	noncoding	Benign
9	129813558	C	A	C129813558A	TOR1A	NM_000113.3(TOR1A):c.*414G>T	noncoding	Benign
9	129813758	G	C	G129813758C	TOR1A	NM_000113.3(TOR1A):c.*214C>G	noncoding	Benign
9	129813781	C	A	C129813781A	TOR1A	NM_000113.3(TOR1A):c.*191G>T	noncoding	Benign
9	129814019	C	T	C129814019T	TOR1A	NM_000113.3(TOR1A):c.952G>A:p.Gly318Ser	coding	Pathogenic
9	129814152	T	C	T129814152C	TOR1A	NM_000113.3(TOR1A):c.819A>G:p.Glu273=	coding	Benign
9	129814233	G	T	G129814233T	TOR1A	NM_000113.3(TOR1A):c.749-11C>A	noncoding	Benign
9	129818622	C	G	C129818622G	TOR1A	NM_000113.3(TOR1A):c.646G>C:p.Asp216His	coding	Benign
9	129818804	G	A	G129818804A	TOR1A	NM_000113.3(TOR1A):c.561C>T:p.Leu187=	coding	Benign/Likely_benign
9	129818877	G	A	G129818877A	TOR1A	NM_000113.3(TOR1A):c.488C>T:p.Ala163Val	coding	Benign/Likely_benign
9	129818942	C	T	C129818942T	TOR1A	NM_000113.3(TOR1A):c.445-22G>A	noncoding	Benign
9	129822779	G	A	G129822779A	TOR1A	NM_000113.3(TOR1A):c.246C>T:p.Ala82=	coding	Benign
9	129824060	C	G	C129824060G	TOR1A	NM_000113.3(TOR1A):c.26G>C:p.Gly9Ala	coding	Benign/Likely_benign
9	129824121	G	A	G129824121A	TOR1A	NM_000113.3(TOR1A):c.-36C>T	noncoding	Benign
9	129858576	C	A	C129858576A	USP20	NM_001110303.4(USP20):c.308C>A:p.Ser103Tyr	coding	Benign
9	129863223	C	T	C129863223T	USP20	NM_001110303.4(USP20):c.535C>T:p.Leu179=	coding	Benign
9	129868178	G	A	G129868178A	USP20	NM_001110303.4(USP20):c.864G>A:p.Ser288=	coding	Benign
9	129868400	G	A	G129868400A	USP20	NM_001110303.4(USP20):c.1086G>A:p.Ala362=	coding	Benign
9	129868415	G	A	G129868415A	USP20	NM_001110303.4(USP20):c.1101G>A:p.Pro367=	coding	Benign
9	129880249	C	T	C129880249T	USP20	NM_001110303.4(USP20):c.2721C>T:p.Ile907=	coding	Benign
9	129900032	G	A	G129900032A	FNBP1	NM_015033.3(FNBP1):c.1620C>T:p.Asp540=	coding	Benign
9	129900546	G	C	G129900546C	FNBP1	NM_015033.3(FNBP1):c.1430C>G:p.Ala477Gly	coding	Benign
9	130222748	C	T	C130222748T	NCS1	NM_014286.4(NCS1):c.396+10C>T	noncoding	Benign
9	130223167	G	T	G130223167T	NCS1	NM_014286.4(NCS1):c.474+8G>T	noncoding	Benign
9	130444740	G	T	G130444740T	ASS1	NM_000050.4(ASS1):c.-323G>T	noncoding	Benign
9	130444829	C	T	C130444829T	ASS1	NM_000050.4(ASS1):c.-234C>T	noncoding	Benign
9	130450341	C	T	C130450341T	ASS1	NM_054012.4(ASS1):c.-5-1883C>T	noncoding	Benign
9	130452052	T	C	T130452052C	ASS1	NM_054012.4(ASS1):c.-5-172T>C	noncoding	Benign
9	130452268	G	A	G130452268A	ASS1	NM_054012.4(ASS1):c.40G>A:p.Gly14Ser	coding	Pathogenic/Likely_pathogenic
9	130452327	C	T	C130452327T	ASS1	NM_054012.4(ASS1):c.99C>T:p.Ala33=	coding	Benign/Likely_benign
9	130454295	T	G	T130454295G	ASS1	NM_054012.4(ASS1):c.106-10T>G	noncoding	Benign/Likely_benign
9	130454374	G	T	G130454374T	ASS1	NM_054012.4(ASS1):c.174+1G>T	coding	Pathogenic/Likely_pathogenic
9	130454394	A	G	A130454394G	ASS1	NM_054012.4(ASS1):c.174+21A>G	noncoding	Benign
9	130458482	C	T	C130458482T	ASS1	NM_054012.4(ASS1):c.256C>T:p.Arg86Cys	coding	Pathogenic
9	130458483	G	A	G130458483A	ASS1	NM_054012.4(ASS1):c.257G>A:p.Arg86His	coding	Pathogenic
9	130458565	T	G	T130458565G	ASS1	NM_054012.4(ASS1):c.339T>G:p.Tyr113Ter	coding	Pathogenic
9	130458575	G	A	G130458575A	ASS1	NM_054012.4(ASS1):c.349G>A:p.Gly117Ser	coding	Pathogenic/Likely_pathogenic
9	130458578	G	A	G130458578A	ASS1	NM_054012.4(ASS1):c.352G>A:p.Ala118Thr	coding	Pathogenic
9	130458582	C	T	C130458582T	ASS1	NM_054012.4(ASS1):c.356C>T:p.Thr119Ile	coding	Pathogenic
9	130458605	A	G	A130458605G	ASS1	NM_054012.4(ASS1):c.363+16A>G	noncoding	Benign/Likely_benign
9	130458784	C	T	C130458784T	ASS1	NM_054012.4(ASS1):c.363+195C>T	noncoding	Benign
9	130464105	T	C	T130464105C	ASS1	NM_054012.4(ASS1):c.364-6T>C	noncoding	Benign/Likely_benign
9	130464117	G	A	G130464117A	ASS1	NM_054012.4(ASS1):c.370G>A:p.Asp124Asn	coding	Pathogenic
9	130466697	C	T	C130466697T	ASS1	NM_054012.4(ASS1):c.421-28C>T	noncoding	Benign
9	130466706	C	T	C130466706T	ASS1	NM_054012.4(ASS1):c.421-19C>T	noncoding	Benign
9	130466723	A	C	A130466723C	ASS1	NM_054012.4(ASS1):c.421-2A>C	noncoding	Pathogenic
9	130466723	A	G	A130466723G	ASS1	NM_054012.4(ASS1):c.421-2A>G	noncoding	Pathogenic
9	130466773	C	T	C130466773T	ASS1	NM_054012.4(ASS1):c.469C>T:p.Arg157Cys	coding	Pathogenic
9	130470832	A	G	A130470832G	ASS1	NM_054012.4(ASS1):c.496-2A>G	noncoding	Pathogenic/Likely_pathogenic
9	130470839	C	T	C130470839T	ASS1	NM_054012.4(ASS1):c.501C>T:p.His167=	coding	Benign
9	130470873	T	C	T130470873C	ASS1	NM_054012.4(ASS1):c.535T>C:p.Trp179Arg	coding	Pathogenic
9	130470877	G	A	G130470877A	ASS1	NM_054012.4(ASS1):c.539G>A:p.Ser180Asn	coding	Pathogenic/Likely_pathogenic
9	130470905	G	T	G130470905T	ASS1	NM_054012.4(ASS1):c.566+1G>T	coding	Pathogenic
9	130471489	G	A	G130471489A	ASS1	NM_054012.4(ASS1):c.571G>A:p.Glu191Lys	coding	Pathogenic/Likely_pathogenic
9	130471523	C	T	C130471523T	ASS1	NM_054012.4(ASS1):c.597+8C>T	noncoding	Benign
9	130471533	A	G	A130471533G	ASS1	NM_054012.4(ASS1):c.597+18A>G	noncoding	Benign
9	130471596	A	G	A130471596G	ASS1	NM_054012.4(ASS1):c.597+81A>G	noncoding	Benign
9	130471693	G	A	G130471693A	ASS1	NM_054012.4(ASS1):c.597+178G>A	noncoding	Benign
9	130476948	C	T	C130476948T	ASS1	NM_054012.4(ASS1):c.675C>T:p.Ile225=	coding	Benign
9	130476965	T	C	T130476965C	ASS1	NM_054012.4(ASS1):c.688+4T>C	noncoding	Benign
9	130479714	A	C	A130479714C	ASS1	NM_054012.4(ASS1):c.689-2A>C	noncoding	Pathogenic
9	130479793	G	A	G130479793A	ASS1	NM_054012.4(ASS1):c.766G>A:p.Glu256Lys	coding	Benign/Likely_benign
9	130479801	G	A	G130479801A	ASS1	NM_054012.4(ASS1):c.773+1G>A	coding	Pathogenic/Likely_pathogenic
9	130480383	A	G	A130480383G	ASS1	NM_054012.4(ASS1):c.774-2A>G	noncoding	Pathogenic
9	130480398	G	A	G130480398A	ASS1	NM_054012.4(ASS1):c.787G>A:p.Val263Met	coding	Pathogenic/Likely_pathogenic
9	130480404	C	T	C130480404T	ASS1	NM_054012.4(ASS1):c.793C>T:p.Arg265Cys	coding	Pathogenic
9	130480405	G	A	G130480405A	ASS1	NM_054012.4(ASS1):c.794G>A:p.Arg265His	coding	Pathogenic/Likely_pathogenic
9	130480425	C	T	C130480425T	ASS1	NM_054012.4(ASS1):c.814C>T:p.Arg272Cys	coding	Pathogenic
9	130480441	A	G	A130480441G	ASS1	NM_054012.4(ASS1):c.830A>G:p.Lys277Arg	coding	Pathogenic
9	130480446	C	T	C130480446T	ASS1	NM_054012.4(ASS1):c.835C>T:p.Arg279Ter	coding	Pathogenic/Likely_pathogenic
9	130480447	G	A	G130480447A	ASS1	NM_054012.4(ASS1):c.836G>A:p.Arg279Gln	coding	Pathogenic/Likely_pathogenic
9	130480450	G	T	G130480450T	ASS1	NM_054012.4(ASS1):c.838+1G>T	coding	Pathogenic/Likely_pathogenic
9	130480487	A	G	A130480487G	ASS1	NM_054012.4(ASS1):c.838+38A>G	noncoding	Benign
9	130489340	C	A	C130489340A	ASS1	NM_054012.4(ASS1):c.846C>A:p.Tyr282Ter	coding	Pathogenic
9	130489345	C	T	C130489345T	ASS1	NM_054012.4(ASS1):c.851C>T:p.Thr284Ile	coding	Pathogenic
9	130489370	T	C	T130489370C	ASS1	NM_054012.4(ASS1):c.876T>C:p.His292=	coding	Benign
9	130489404	C	T	C130489404T	ASS1	NM_054012.4(ASS1):c.910C>T:p.Arg304Trp	coding	Pathogenic
9	130489413	C	T	C130489413T	ASS1	NM_054012.4(ASS1):c.919C>T:p.Arg307Cys	coding	Pathogenic/Likely_pathogenic
9	130489425	C	T	C130489425T	ASS1	NM_054012.4(ASS1):c.931C>T:p.Gln311Ter	coding	Pathogenic/Likely_pathogenic
9	130489464	G	A	G130489464A	ASS1	NM_054012.4(ASS1):c.970G>A:p.Gly324Ser	coding	Pathogenic/Likely_pathogenic
9	130489469	G	A	G130489469A	ASS1	NM_054012.4(ASS1):c.970+5G>A	noncoding	Pathogenic/Likely_pathogenic
9	130489707	C	T	C130489707T	ASS1	NM_054012.4(ASS1):c.970+243C>T	noncoding	Benign
9	130494926	C	T	C130494926T	ASS1	NM_054012.4(ASS1):c.1030C>T:p.Arg344Ter	coding	Pathogenic/Likely_pathogenic
9	130494965	C	T	C130494965T	ASS1	NM_054012.4(ASS1):c.1069C>T:p.Gln357Ter	coding	Pathogenic/Likely_pathogenic
9	130494981	G	T	G130494981T	ASS1	NM_054012.4(ASS1):c.1085G>T:p.Gly362Val	coding	Pathogenic
9	130494983	C	T	C130494983T	ASS1	NM_054012.4(ASS1):c.1087C>T:p.Arg363Trp	coding	Pathogenic/Likely_pathogenic
9	130499545	G	A	G130499545A	ASS1	NM_054012.4(ASS1):c.1168G>A:p.Gly390Arg	coding	Pathogenic/Likely_pathogenic
9	130500975	G	C	G130500975C	ASS1	NM_054012.4(ASS1):c.1194-1G>C	noncoding	Pathogenic
9	130664744	G	T	G130664744T	PRDM12	NM_021619.3(PRDM12):c.91G>T:p.Asp31Tyr	coding	Pathogenic
9	130666689	T	A	T130666689A	PRDM12	NM_021619.3(PRDM12):c.305T>A:p.Ile102Asn	coding	Pathogenic
9	130668259	G	C	G130668259C	PRDM12	NM_021619.3(PRDM12):c.516G>C:p.Glu172Asp	coding	Pathogenic
9	130681420	G	A	G130681420A	PRDM12	NM_021619.3(PRDM12):c.855G>A:p.Thr285=	coding	Benign
9	130681431	A	T	A130681431T	PRDM12	NM_021619.3(PRDM12):c.866A>T:p.His289Leu	coding	Pathogenic
9	130693813	C	G	C130693813G	EXOSC2	NM_014285.7(EXOSC2):c.22C>G:p.Pro8Ala	coding	Benign
9	130693880	G	T	G130693880T	EXOSC2	NM_014285.7(EXOSC2):c.89G>T:p.Gly30Val	coding	Pathogenic
9	130700869	T	C	T130700869C	EXOSC2	NM_014285.7(EXOSC2):c.429T>C:p.Ala143=	coding	Benign
9	130702231	G	A	G130702231A	EXOSC2	NM_014285.7(EXOSC2):c.593G>A:p.Gly198Asp	coding	Pathogenic
9	130854112	G	A	G130854112A	ABL1	NM_005157.6(ABL1):c.128G>A:p.Ser43Asn	coding	Benign
9	130854233	T	G	T130854233G	ABL1	NM_005157.6(ABL1):c.249T>G:p.Thr83=	coding	Benign
9	130854897	C	T	C130854897T	ABL1	NM_005157.6(ABL1):c.350C>T:p.Thr117Met	coding	Pathogenic
9	130855048	C	T	C130855048T	ABL1	NM_005157.6(ABL1):c.501C>T:p.Tyr167=	coding	Benign
9	130862890	A	G	A130862890G	ABL1	NM_005157.6(ABL1):c.677A>G:p.Tyr226Cys	coding	Pathogenic
9	130862919	G	A	G130862919A	ABL1	NM_005157.6(ABL1):c.706G>A:p.Glu236Lys	coding	Pathogenic/Likely_pathogenic
9	130862920	A	T	A130862920T	ABL1	NM_005157.6(ABL1):c.707A>T:p.Glu236Val	coding	Pathogenic
9	130862933	G	A	G130862933A	ABL1	NM_005157.6(ABL1):c.720G>A:p.Thr240=	coding	Benign
9	130862953	A	G	A130862953G	ABL1	NM_005157.6(ABL1):c.740A>G:p.Lys247Arg	coding	Benign
9	130862970	T	C	T130862970C	ABL1	NM_005157.6(ABL1):c.757T>C:p.Tyr253His	coding	Pathogenic/Likely_pathogenic
9	130862977	A	T	A130862977T	ABL1	NM_005157.6(ABL1):c.764A>T:p.Glu255Val	coding	Pathogenic/Likely_pathogenic
9	130872149	A	G	A130872149G	ABL1	NM_005157.6(ABL1):c.843A>G:p.Glu281=	coding	Benign
9	130872883	T	C	T130872883C	ABL1	NM_005157.6(ABL1):c.931T>C:p.Phe311Leu	coding	Pathogenic
9	130872896	C	T	C130872896T	ABL1	NM_005157.6(ABL1):c.944C>T:p.Thr315Ile	coding	Pathogenic/Likely_pathogenic
9	130872961	G	A	G130872961A	ABL1	NM_005157.6(ABL1):c.1009G>A:p.Ala337Thr	coding	Pathogenic
9	130873004	T	C	T130873004C	ABL1	NM_005157.6(ABL1):c.1052T>C:p.Met351Thr	coding	Pathogenic/Likely_pathogenic
9	130874969	A	G	A130874969G	ABL1	NM_005157.6(ABL1):c.1187A>G:p.His396Arg	coding	Pathogenic/Likely_pathogenic
9	130878562	G	A	G130878562A	ABL1	NM_005157.6(ABL1):c.1418G>A:p.Arg473Gln	coding	Benign
9	130880502	G	A	G130880502A	ABL1	NM_005157.6(ABL1):c.1516G>A:p.Val506Met	coding	Pathogenic
9	130880582	G	A	G130880582A	ABL1	NM_005157.6(ABL1):c.1596G>A:p.Thr532=	coding	Benign
9	130880663	C	T	C130880663T	ABL1	NM_005157.6(ABL1):c.1677C>T:p.Ser559=	coding	Benign
9	130883991	C	T	C130883991T	ABL1	NM_005157.6(ABL1):c.1701C>T:p.Ala567=	coding	Benign
9	130884189	C	T	C130884189T	ABL1	NM_005157.6(ABL1):c.1899C>T:p.Ala633=	coding	Benign
9	130884330	C	T	C130884330T	ABL1	NM_005157.6(ABL1):c.2040C>T:p.Gly680=	coding	Benign
9	130884406	G	A	G130884406A	ABL1	NM_005157.6(ABL1):c.2116G>A:p.Gly706Ser	coding	Benign
9	130884477	G	A	G130884477A	ABL1	NM_005157.6(ABL1):c.2187G>A:p.Thr729=	coding	Benign
9	130884719	C	T	C130884719T	ABL1	NM_005157.6(ABL1):c.2429C>T:p.Pro810Leu	coding	Benign
9	130884993	C	G	C130884993G	ABL1	NM_005157.6(ABL1):c.2703C>G:p.Pro901=	coding	Benign
9	130885072	C	T	C130885072T	ABL1	NM_005157.6(ABL1):c.2782C>T:p.Leu928=	coding	Benign
9	130885206	G	A	G130885206A	ABL1	NM_005157.6(ABL1):c.2916G>A:p.Ser972=	coding	Benign
9	130885248	A	G	A130885248G	ABL1	NM_005157.6(ABL1):c.2958A>G:p.Pro986=	coding	Benign
9	130885290	C	T	C130885290T	ABL1	NM_005157.6(ABL1):c.3000C>T:p.Thr1000=	coding	Benign
9	130885362	C	T	C130885362T	ABL1	NM_005157.6(ABL1):c.3072C>T:p.Ser1024=	coding	Benign
9	130885464	G	A	G130885464A	ABL1	NM_005157.6(ABL1):c.3174G>A:p.Glu1058=	coding	Benign
9	130893579	C	T	C130893579T	QRFP	NM_198180.3(QRFP):c.260G>A:p.Arg87His	coding	Benign
9	130893600	T	C	T130893600C	QRFP	NM_198180.3(QRFP):c.239A>G:p.Glu80Gly	coding	Benign
9	130893611	T	A	T130893611A	QRFP	NM_198180.3(QRFP):c.228A>T:p.Thr76=	coding	Benign
9	130893636	A	T	A130893636T	QRFP	NM_198180.3(QRFP):c.203T>A:p.Leu68His	coding	Benign
9	130893734	T	C	T130893734C	QRFP	NM_198180.3(QRFP):c.105A>G:p.Gly35=	coding	Benign
9	131009173	C	G	C131009173G	LAMC3	NM_006059.3(LAMC3):c.-42C>G	noncoding	Benign
9	131009289	C	T	C131009289T	LAMC3	NM_006059.4(LAMC3):c.75C>T:p.Cys25=	coding	Benign
9	131009306	G	T	G131009306T	LAMC3	NM_006059.4(LAMC3):c.92G>T:p.Arg31Leu	coding	Benign
9	131009360	A	G	A131009360G	LAMC3	NM_006059.4(LAMC3):c.146A>G:p.Gln49Arg	coding	Benign/Likely_benign
9	131009433	T	G	T131009433G	LAMC3	NM_006059.4(LAMC3):c.219T>G:p.His73Gln	coding	Benign
9	131009582	G	T	G131009582T	LAMC3	NM_006059.4(LAMC3):c.368G>T:p.Arg123Leu	coding	Benign/Likely_benign
9	131026269	G	A	G131026269A	LAMC3	NM_006059.4(LAMC3):c.374-16G>A	noncoding	Benign
9	131026365	C	T	C131026365T	LAMC3	NM_006059.4(LAMC3):c.454C>T:p.Arg152Cys	coding	Benign
9	131026381	G	A	G131026381A	LAMC3	NM_006059.4(LAMC3):c.470G>A:p.Trp157Ter	coding	Pathogenic
9	131026428	C	T	C131026428T	LAMC3	NM_006059.4(LAMC3):c.517C>T:p.Arg173Trp	coding	Benign/Likely_benign
9	131026432	C	A	C131026432A	LAMC3	NM_006059.4(LAMC3):c.521C>A:p.Pro174His	coding	Benign/Likely_benign
9	131026469	C	T	C131026469T	LAMC3	NM_006059.4(LAMC3):c.558C>T:p.Arg186=	coding	Benign/Likely_benign
9	131031842	C	T	C131031842T	LAMC3	NM_006059.4(LAMC3):c.679-203C>T	noncoding	Benign
9	131032152	G	A	G131032152A	LAMC3	NM_006059.4(LAMC3):c.786G>A:p.Val262=	coding	Benign
9	131036211	A	G	A131036211G	LAMC3	NM_006059.4(LAMC3):c.855A>G:p.Ala285=	coding	Benign/Likely_benign
9	131036319	C	T	C131036319T	LAMC3	NM_006059.4(LAMC3):c.963C>T:p.Ala321=	coding	Benign/Likely_benign
9	131038853	C	G	C131038853G	LAMC3	NM_006059.4(LAMC3):c.977-11C>G	noncoding	Benign
9	131038935	G	A	G131038935A	LAMC3	NM_006059.4(LAMC3):c.1048G>A:p.Gly350Arg	coding	Pathogenic
9	131039043	C	T	C131039043T	LAMC3	NM_006059.4(LAMC3):c.1156C>T:p.Gln386Ter	coding	Pathogenic
9	131039183	G	A	G131039183A	LAMC3	NM_006059.4(LAMC3):c.1218G>A:p.Thr406=	coding	Benign/Likely_benign
9	131041449	A	G	A131041449G	LAMC3	NM_006059.4(LAMC3):c.1284-188A>G	noncoding	Benign
9	131045864	C	G	C131045864G	LAMC3	NM_006059.4(LAMC3):c.1519+204C>G	noncoding	Benign
9	131045946	G	A	G131045946A	LAMC3	NM_006059.4(LAMC3):c.1519+286G>A	noncoding	Benign
9	131049064	C	T	C131049064T	LAMC3	NM_006059.4(LAMC3):c.1564C>T:p.Pro522Ser	coding	Benign
9	131049135	C	G	C131049135G	LAMC3	NM_006059.4(LAMC3):c.1630+5C>G	noncoding	Benign/Likely_benign
9	131052535	A	G	A131052535G	LAMC3	NM_006059.4(LAMC3):c.1675A>G:p.Ile559Val	coding	Benign
9	131052547	C	T	C131052547T	LAMC3	NM_006059.4(LAMC3):c.1687C>T:p.Arg563Trp	coding	Benign
9	131052652	G	A	G131052652A	LAMC3	NM_006059.4(LAMC3):c.1792G>A:p.Gly598Arg	coding	Benign/Likely_benign
9	131052958	C	T	C131052958T	LAMC3	NM_006059.4(LAMC3):c.1932C>T:p.Ser644=	coding	Benign/Likely_benign
9	131052976	A	G	A131052976G	LAMC3	NM_006059.4(LAMC3):c.1939+11A>G	noncoding	Benign
9	131053240	C	T	C131053240T	LAMC3	NM_006059.4(LAMC3):c.1939+275C>T	noncoding	Benign
9	131056853	A	C	A131056853C	LAMC3	NM_006059.4(LAMC3):c.1940-76A>C	noncoding	Benign
9	131056920	G	A	G131056920A	LAMC3	NM_006059.4(LAMC3):c.1940-9G>A	noncoding	Benign
9	131057028	C	T	C131057028T	LAMC3	NM_006059.4(LAMC3):c.2039C>T:p.Thr680Met	coding	Benign/Likely_benign
9	131057085	G	A	G131057085A	LAMC3	NM_006059.4(LAMC3):c.2096G>A:p.Gly699Asp	coding	Benign
9	131057289	C	T	C131057289T	LAMC3	NM_006059.4(LAMC3):c.2158+142C>T	noncoding	Benign
9	131060947	G	A	G131060947A	LAMC3	NM_006059.4(LAMC3):c.2159-88G>A	noncoding	Benign
9	131060994	G	A	G131060994A	LAMC3	NM_006059.4(LAMC3):c.2159-41G>A	noncoding	Benign
9	131061184	C	G	C131061184G	LAMC3	NM_006059.4(LAMC3):c.2308C>G:p.Arg770Gly	coding	Benign/Likely_benign
9	131061388	C	T	C131061388T	LAMC3	NM_006059.4(LAMC3):c.2347+165C>T	noncoding	Benign
9	131066964	G	A	G131066964A	LAMC3	NM_006059.4(LAMC3):c.2352G>A:p.Arg784=	coding	Benign/Likely_benign
9	131067042	C	A	C131067042A	LAMC3	NM_006059.4(LAMC3):c.2430C>A:p.Cys810Ter	coding	Pathogenic
9	131067050	G	A	G131067050A	LAMC3	NM_006059.4(LAMC3):c.2438G>A:p.Ser813Asn	coding	Benign/Likely_benign
9	131067051	C	G	C131067051G	LAMC3	NM_006059.4(LAMC3):c.2439C>G:p.Ser813Arg	coding	Benign/Likely_benign
9	131067128	C	T	C131067128T	LAMC3	NM_006059.4(LAMC3):c.2516C>T:p.Thr839Met	coding	Benign/Likely_benign
9	131067171	C	T	C131067171T	LAMC3	NM_006059.4(LAMC3):c.2559C>T:p.Ser853=	coding	Benign
9	131067457	T	C	T131067457C	LAMC3	NM_006059.4(LAMC3):c.2593+252T>C	noncoding	Benign
9	131067485	G	A	G131067485A	LAMC3	NM_006059.4(LAMC3):c.2593+280G>A	noncoding	Benign
9	131067502	A	C	A131067502C	LAMC3	NM_006059.4(LAMC3):c.2593+297A>C	noncoding	Benign
9	131067512	G	A	G131067512A	LAMC3	NM_006059.4(LAMC3):c.2593+307G>A	noncoding	Benign
9	131067758	C	G	C131067758G	LAMC3	NM_006059.4(LAMC3):c.2594-320C>G	noncoding	Benign
9	131067794	C	T	C131067794T	LAMC3	NM_006059.4(LAMC3):c.2594-284C>T	noncoding	Benign
9	131068678	G	A	G131068678A	LAMC3	NM_006059.4(LAMC3):c.2748-230G>A	noncoding	Benign
9	131069065	T	A	T131069065A	LAMC3	NM_006059.4(LAMC3):c.2890+15T>A	noncoding	Benign
9	131071187	G	A	G131071187A	LAMC3	NM_006059.4(LAMC3):c.3070-297G>A	noncoding	Benign
9	131071387	C	T	C131071387T	LAMC3	NM_006059.4(LAMC3):c.3070-97C>T	noncoding	Benign
9	131071522	G	A	G131071522A	LAMC3	NM_006059.4(LAMC3):c.3108G>A:p.Gly1036=	coding	Benign
9	131071528	C	G	C131071528G	LAMC3	NM_006059.4(LAMC3):c.3114C>G:p.Leu1038=	coding	Benign
9	131072662	A	G	A131072662G	LAMC3	NM_006059.4(LAMC3):c.3244A>G:p.Ser1082Gly	coding	Benign
9	131072765	C	G	C131072765G	LAMC3	NM_006059.4(LAMC3):c.3347C>G:p.Ala1116Gly	coding	Benign/Likely_benign
9	131072789	C	T	C131072789T	LAMC3	NM_006059.4(LAMC3):c.3371C>T:p.Ser1124Phe	coding	Benign
9	131073367	G	T	G131073367T	LAMC3	NM_006059.4(LAMC3):c.3494+46G>T	noncoding	Benign
9	131075960	G	A	G131075960A	LAMC3	NM_006059.4(LAMC3):c.3624G>A:p.Glu1208=	coding	Benign/Likely_benign
9	131077182	C	A	C131077182A	LAMC3	NM_006059.4(LAMC3):c.3630-5C>A	noncoding	Benign
9	131078901	C	T	C131078901T	LAMC3	NM_006059.4(LAMC3):c.3778-248C>T	noncoding	Benign
9	131079161	C	T	C131079161T	LAMC3	NM_006059.4(LAMC3):c.3790C>T:p.Arg1264Trp	coding	Benign
9	131079306	C	G	C131079306G	LAMC3	NM_006059.4(LAMC3):c.3927+8C>G	noncoding	Benign/Likely_benign
9	131085561	G	A	G131085561A	LAMC3	NM_006059.4(LAMC3):c.4068G>A:p.Ala1356=	coding	Benign/Likely_benign
9	131085639	G	A	G131085639A	LAMC3	NM_006059.4(LAMC3):c.4146G>A:p.Arg1382=	coding	Benign/Likely_benign
9	131085654	G	A	G131085654A	LAMC3	NM_006059.4(LAMC3):c.4161G>A:p.Ala1387=	coding	Benign
9	131087466	C	T	C131087466T	LAMC3	NM_006059.4(LAMC3):c.4231-10C>T	noncoding	Benign
9	131087543	C	T	C131087543T	LAMC3	NM_006059.4(LAMC3):c.4298C>T:p.Thr1433Met	coding	Benign/Likely_benign
9	131087621	G	A	G131087621A	LAMC3	NM_006059.4(LAMC3):c.4376G>A:p.Arg1459Gln	coding	Benign
9	131087714	A	G	A131087714G	LAMC3	NM_006059.4(LAMC3):c.4378-4A>G	noncoding	Benign/Likely_benign
9	131087826	G	T	G131087826T	LAMC3	NM_006059.4(LAMC3):c.4477+9G>T	noncoding	Benign/Likely_benign
9	131087830	T	C	T131087830C	LAMC3	NM_006059.4(LAMC3):c.4477+13T>C	noncoding	Benign
9	131087935	C	T	C131087935T	LAMC3	NM_006059.4(LAMC3):c.4477+118C>T	noncoding	Benign
9	131091620	T	G	T131091620G	LAMC3	NM_006059.4(LAMC3):c.4561T>G:p.Ser1521Ala	coding	Benign
9	131091712	C	T	C131091712T	LAMC3	NM_006059.4(LAMC3):c.4653C>T:p.Ala1551=	coding	Benign
9	131128416	C	T	C131128416T	NUP214	NM_005085.4(NUP214):c.326C>T:p.Ala109Val	coding	Benign
9	131144593	G	A	G131144593A	NUP214	NM_005085.4(NUP214):c.1608G>A:p.Ala536=	coding	Benign
9	131151751	A	G	A131151751G	NUP214	NM_005085.4(NUP214):c.2293A>G:p.Ile765Val	coding	Benign
9	131163096	T	G	T131163096G	NUP214	NM_005085.4(NUP214):c.2646T>G:p.Leu882=	coding	Benign
9	131195269	G	A	G131195269A	NUP214	NM_005085.4(NUP214):c.3696G>A:p.Pro1232=	coding	Benign
9	131197413	T	A	T131197413A	NUP214	NM_005085.4(NUP214):c.3919T>A:p.Ser1307Thr	coding	Benign
9	131197430	C	G	C131197430G	NUP214	NM_005085.4(NUP214):c.3936C>G:p.Thr1312=	coding	Benign
9	131198180	A	C	A131198180C	NUP214	NM_005085.4(NUP214):c.4686A>C:p.Ala1562=	coding	Benign
9	131198269	G	C	G131198269C	NUP214	NM_005085.4(NUP214):c.4775G>C:p.Gly1592Ala	coding	Benign
9	131198511	G	C	G131198511C	NUP214	NM_005085.4(NUP214):c.5017G>C:p.Val1673Leu	coding	Benign
9	131198900	C	T	C131198900T	NUP214	NM_005085.4(NUP214):c.5406C>T:p.Asn1802=	coding	Benign
9	131233457	T	C	T131233457C	NUP214	NM_005085.4(NUP214):c.6243T>C:p.Ser2081=	coding	Benign
9	131474730	G	A	G131474730A	PRRC2B	NM_013318.3(PRRC2B):c.2601G>A:p.Glu867=	coding	Benign
9	131476044	A	G	A131476044G	PRRC2B	NM_013318.3(PRRC2B):c.3915A>G:p.Pro1305=	coding	Benign
9	131487889	G	A	G131487889A	PRRC2B	NM_013318.3(PRRC2B):c.6018G>A:p.Pro2006=	coding	Benign
9	131504213	T	G	T131504213G	POMT1	NM_001077365.2(POMT1):c.-6T>G	noncoding	Benign/Likely_benign
9	131504296	G	A	G131504296A	POMT1	NM_001077365.2(POMT1):c.78G>A:p.Gly26=	coding	Benign/Likely_benign
9	131506160	C	T	C131506160T	POMT1	NM_001077365.2(POMT1):c.169C>T:p.Gln57Ter	coding	Pathogenic
9	131506184	G	A	G131506184A	POMT1	NM_001077365.2(POMT1):c.193G>A:p.Gly65Arg	coding	Pathogenic
9	131506217	G	A	G131506217A	POMT1	NM_001077365.2(POMT1):c.226G>A:p.Gly76Arg	coding	Pathogenic
9	131506437	G	A	G131506437A	POMT1	NM_001077365.2(POMT1):c.264G>A:p.Trp88Ter	coding	Pathogenic
9	131506454	G	T	G131506454T	POMT1	NM_001077365.2(POMT1):c.280+1G>T	coding	Pathogenic
9	131506724	G	A	G131506724A	POMT1	NM_001077365.2(POMT1):c.280+271G>A	noncoding	Benign
9	131507169	G	A	G131507169A	POMT1	NM_001077365.2(POMT1):c.281-199G>A	noncoding	Benign
9	131507286	C	T	C131507286T	POMT1	NM_001077365.2(POMT1):c.281-82C>T	noncoding	Benign
9	131508890	T	C	T131508890C	POMT1	NM_001077365.2(POMT1):c.428-21T>C	noncoding	Benign
9	131508913	A	G	A131508913G	POMT1	NM_001077365.2(POMT1):c.430A>G:p.Asn144Asp	coding	Pathogenic
9	131508926	C	A	C131508926A	POMT1	NM_001077365.2(POMT1):c.443C>A:p.Thr148Asn	coding	Pathogenic
9	131509113	C	T	C131509113T	POMT1	NM_001077365.2(POMT1):c.539+91C>T	noncoding	Benign
9	131509126	A	G	A131509126G	POMT1	NM_001077365.2(POMT1):c.539+104A>G	noncoding	Benign
9	131509801	G	C	G131509801C	POMT1	NM_001077365.2(POMT1):c.598G>C:p.Ala200Pro	coding	Pathogenic/Likely_pathogenic
9	131509809	G	C	G131509809C	POMT1	NM_001077365.2(POMT1):c.605+1G>C	coding	Pathogenic
9	131510048	C	T	C131510048T	POMT1	NM_001077365.2(POMT1):c.699+52C>T	coding	Benign/Likely_benign
9	131510049	A	G	A131510049G	POMT1	NM_001077365.2(POMT1):c.699+53A>G	coding	Benign
9	131510063	G	A	G131510063A	POMT1	NM_001077365.2(POMT1):c.699+67G>A	coding	Pathogenic
9	131510212	A	G	A131510212G	POMT1	NM_001077365.2(POMT1):c.700-48A>G	noncoding	Benign
9	131510287	C	T	C131510287T	POMT1	NM_001077365.2(POMT1):c.727C>T:p.Arg243Ter	coding	Pathogenic
9	131510401	C	T	C131510401T	POMT1	NM_001077365.2(POMT1):c.841C>T:p.Gln281Ter	coding	Pathogenic
9	131510640	A	G	A131510640G	POMT1	NM_001077365.2(POMT1):c.855+225A>G	noncoding	Benign
9	131511038	T	A	T131511038A	POMT1	NM_001077365.2(POMT1):c.856-299T>A	noncoding	Benign
9	131511272	G	A	G131511272A	POMT1	NM_001077365.2(POMT1):c.856-65G>A	noncoding	Benign
9	131511288	T	G	T131511288G	POMT1	NM_001077365.2(POMT1):c.856-49T>G	noncoding	Benign
9	131511357	T	C	T131511357C	POMT1	NM_001077365.2(POMT1):c.876T>C:p.Thr292=	coding	Benign
9	131511372	G	A	G131511372A	POMT1	NM_001077365.2(POMT1):c.891G>A:p.Leu297=	coding	Benign/Likely_benign
9	131511394	G	A	G131511394A	POMT1	NM_001077365.2(POMT1):c.913G>A:p.Val305Ile	coding	Benign/Likely_benign
9	131511459	C	A	C131511459A	POMT1	NM_001077365.2(POMT1):c.978C>A:p.Tyr326Ter	coding	Pathogenic
9	131511516	G	A	G131511516A	POMT1	NM_001077365.2(POMT1):c.986+49G>A	noncoding	Benign
9	131511651	G	A	G131511651A	POMT1	NM_001077365.2(POMT1):c.986+184G>A	noncoding	Benign
9	131511713	G	A	G131511713A	POMT1	NM_001077365.2(POMT1):c.986+246G>A	noncoding	Benign
9	131511746	T	C	T131511746C	POMT1	NM_001077365.2(POMT1):c.986+279T>C	noncoding	Benign
9	131511868	C	T	C131511868T	POMT1	NM_001077365.2(POMT1):c.987-173C>T	noncoding	Benign
9	131511928	C	G	C131511928G	POMT1	NM_001077365.2(POMT1):c.987-113C>G	noncoding	Benign
9	131512044	T	A	T131512044A	POMT1	NM_001077365.2(POMT1):c.990T>A:p.Tyr330Ter	coding	Pathogenic
9	131512069	C	T	C131512069T	POMT1	NM_001077365.2(POMT1):c.1015C>T:p.Gln339Ter	coding	Pathogenic
9	131512101	T	C	T131512101C	POMT1	NM_001077365.2(POMT1):c.1047T>C:p.Asp349=	coding	Benign
9	131512152	G	A	G131512152A	POMT1	NM_001077365.2(POMT1):c.1082+16G>A	noncoding	Benign
9	131513059	G	A	G131513059A	POMT1	NM_001077365.2(POMT1):c.1083-180G>A	noncoding	Benign
9	131513243	C	T	C131513243T	POMT1	NM_001077365.2(POMT1):c.1087C>T:p.Gln363Ter	coding	Pathogenic
9	131513281	C	T	C131513281T	POMT1	NM_001077365.2(POMT1):c.1125C>T:p.His375=	coding	Benign/Likely_benign
9	131513331	C	T	C131513331T	POMT1	NM_001077365.2(POMT1):c.1175C>T:p.Thr392Met	coding	Pathogenic
9	131513332	G	A	G131513332A	POMT1	NM_001077365.2(POMT1):c.1175+1G>A	coding	Pathogenic
9	131515483	C	A	C131515483A	POMT1	NM_001077365.2(POMT1):c.1233C>A:p.Asp411Glu	coding	Benign
9	131518375	C	T	C131518375T	POMT1	NM_001077365.2(POMT1):c.1273-70C>T	noncoding	Benign
9	131518447	A	G	A131518447G	POMT1	NM_001077365.2(POMT1):c.1275A>G:p.Glu425=	coding	Benign
9	131518533	T	G	T131518533G	POMT1	NM_001077365.2(POMT1):c.1361T>G:p.Leu454Ter	coding	Pathogenic
9	131518776	A	G	A131518776G	POMT1	NM_001077365.2(POMT1):c.1366-61A>G	noncoding	Benign
9	131518928	G	A	G131518928A	POMT1	NM_001077365.2(POMT1):c.1457G>A:p.Trp486Ter	coding	Pathogenic
9	131518945	C	T	C131518945T	POMT1	NM_001077365.2(POMT1):c.1474C>T:p.Arg492Ter	coding	Pathogenic
9	131518950	C	T	C131518950T	POMT1	NM_001077365.2(POMT1):c.1479C>T:p.Tyr493=	coding	Benign/Likely_benign
9	131519223	G	A	G131519223A	POMT1	NM_001077365.2(POMT1):c.1487-166G>A	noncoding	Benign
9	131519225	G	A	G131519225A	POMT1	NM_001077365.2(POMT1):c.1487-164G>A	noncoding	Benign
9	131519259	A	G	A131519259G	POMT1	NM_001077365.2(POMT1):c.1487-130A>G	noncoding	Benign
9	131520066	C	T	C131520066T	POMT1	NM_001077365.2(POMT1):c.1585-14C>T	noncoding	Benign/Likely_benign
9	131520175	G	C	G131520175C	POMT1	NM_001077365.2(POMT1):c.1680G>C:p.Trp560Cys	coding	Pathogenic
9	131520187	G	A	G131520187A	POMT1	NM_001077365.2(POMT1):c.1692G>A:p.Arg564=	coding	Benign
9	131520193	C	T	C131520193T	POMT1	NM_001077365.2(POMT1):c.1698C>T:p.Ser566=	coding	Benign/Likely_benign
9	131520241	C	G	C131520241G	POMT1	NM_001077365.2(POMT1):c.1698+48C>G	noncoding	Benign
9	131520300	C	A	C131520300A	POMT1	NM_001077365.2(POMT1):c.1698+107C>A	noncoding	Benign
9	131520426	C	T	C131520426T	POMT1	NM_001077365.2(POMT1):c.1698+233C>T	noncoding	Benign
9	131521351	G	C	G131521351C	POMT1	NM_001077365.2(POMT1):c.1704G>C:p.Gln568His	coding	Pathogenic
9	131521439	C	T	C131521439T	POMT1	NM_001077365.2(POMT1):c.1792C>T:p.Arg598Ter	coding	Pathogenic
9	131521445	C	T	C131521445T	POMT1	NM_001077365.2(POMT1):c.1798C>T:p.Arg600Ter	coding	Pathogenic
9	131521670	C	G	C131521670G	POMT1	NM_001077365.2(POMT1):c.1825+198C>G	noncoding	Benign
9	131521779	G	A	G131521779A	POMT1	NM_001077365.2(POMT1):c.1826-268G>A	noncoding	Benign
9	131521799	T	C	T131521799C	POMT1	NM_001077365.2(POMT1):c.1826-248T>C	noncoding	Benign
9	131522007	G	A	G131522007A	POMT1	NM_001077365.2(POMT1):c.1826-40G>A	noncoding	Benign/Likely_benign
9	131522040	C	A	C131522040A	POMT1	NM_001077365.2(POMT1):c.1826-7C>A	noncoding	Benign/Likely_benign
9	131522041	C	A	C131522041A	POMT1	NM_001077365.2(POMT1):c.1826-6C>A	noncoding	Benign/Likely_benign
9	131522077	C	T	C131522077T	POMT1	NM_001077365.2(POMT1):c.1856C>T:p.Ala619Val	coding	Benign/Likely_benign
9	131522113	C	T	C131522113T	POMT1	NM_001077365.2(POMT1):c.1892C>T:p.Pro631Leu	coding	Pathogenic/Likely_pathogenic
9	131522142	C	T	C131522142T	POMT1	NM_001077365.2(POMT1):c.1921C>T:p.Leu641Phe	coding	Pathogenic
9	131522153	C	T	C131522153T	POMT1	NM_001077365.2(POMT1):c.1932C>T:p.Tyr644=	coding	Benign/Likely_benign
9	131522160	G	A	G131522160A	POMT1	NM_001077365.2(POMT1):c.1939G>A:p.Ala647Thr	coding	Pathogenic/Likely_pathogenic
9	131522237	C	T	C131522237T	POMT1	NM_001077365.2(POMT1):c.2003+13C>T	noncoding	Benign
9	131522862	C	T	C131522862T	POMT1	NM_001077365.2(POMT1):c.2004-70C>T	noncoding	Benign
9	131522931	G	C	G131522931C	POMT1	NM_001077365.2(POMT1):c.2004-1G>C	noncoding	Pathogenic
9	131522988	C	T	C131522988T	POMT1	NM_001077365.2(POMT1):c.2060C>T:p.Ala687Val	coding	Benign/Likely_benign
9	131523065	C	T	C131523065T	POMT1	NM_001077365.2(POMT1):c.2137C>T:p.Arg713Cys	coding	Benign/Likely_benign
9	131523096	G	A	G131523096A	POMT1	NM_001077365.2(POMT1):c.2168G>A:p.Arg723Gln	coding	Benign/Likely_benign
9	131523147	T	C	T131523147C	POMT1	NM_001077365.2(POMT1):c.*41T>C	noncoding	Benign
9	131523332	T	C	T131523332C	POMT1	NM_001077365.2(POMT1):c.*226T>C	noncoding	Benign
9	131523384	T	C	T131523384C	POMT1	NM_001077365.2(POMT1):c.*278T>C	noncoding	Benign
9	131523391	A	G	A131523391G	POMT1	NM_001077365.2(POMT1):c.*285A>G	noncoding	Benign
9	131523454	C	T	C131523454T	POMT1	NM_001077365.2(POMT1):c.*348C>T	noncoding	Benign
9	131523527	G	A	G131523527A	POMT1	NM_001077365.2(POMT1):c.*421G>A	noncoding	Benign
9	131523559	T	C	T131523559C	POMT1	NM_001077365.2(POMT1):c.*453T>C	noncoding	Benign
9	131523635	G	A	G131523635A	POMT1	NM_001077365.2(POMT1):c.*529G>A	noncoding	Benign
9	131596338	C	T	C131596338T	RAPGEF1	NM_198679.1(RAPGEF1):c.2145G>A:p.Gly715=	coding	Benign
9	131629161	C	T	C131629161T	RAPGEF1	NM_198679.1(RAPGEF1):c.837G>A:p.Thr279=	coding	Benign
9	132166965	G	A	G132166965A	NTNG2	NM_032536.4(NTNG2):c.134G>A:p.Arg45His	coding	Benign
9	132197994	G	A	G132197994A	NTNG2	NM_032536.4(NTNG2):c.242G>A:p.Cys81Tyr	coding	Pathogenic/Likely_pathogenic
9	132198071	T	G	T132198071G	NTNG2	NM_032536.4(NTNG2):c.319T>G:p.Trp107Gly	coding	Pathogenic/Likely_pathogenic
9	132198469	C	T	C132198469T	NTNG2	NM_032536.4(NTNG2):c.717C>T:p.Ser239=	coding	Benign
9	132226846	C	T	C132226846T	NTNG2	NM_032536.4(NTNG2):c.858-3C>T	noncoding	Benign
9	132239114	C	G	C132239114G	NTNG2	NM_032536.4(NTNG2):c.1065C>G:p.Cys355Trp	coding	Pathogenic/Likely_pathogenic
9	132241885	G	A	G132241885A	NTNG2	NM_032536.4(NTNG2):c.1367G>A:p.Cys456Tyr	coding	Pathogenic/Likely_pathogenic
9	132261733	A	G	A132261733G	SETX	NM_015046.7(SETX):c.*2506T>C	noncoding	Benign/Likely_benign
9	132261977	T	C	T132261977C	SETX	NM_015046.7(SETX):c.*2262A>G	noncoding	Benign
9	132262007	A	G	A132262007G	SETX	NM_015046.7(SETX):c.*2232T>C	noncoding	Benign/Likely_benign
9	132262539	C	A	C132262539A	SETX	NM_015046.7(SETX):c.*1700G>T	noncoding	Benign
9	132262869	C	G	C132262869G	SETX	NM_015046.7(SETX):c.*1370G>C	noncoding	Benign
9	132262871	C	T	C132262871T	SETX	NM_015046.7(SETX):c.*1368G>A	noncoding	Benign
9	132262874	C	A	C132262874A	SETX	NM_015046.7(SETX):c.*1365G>T	noncoding	Benign
9	132262951	A	G	A132262951G	SETX	NM_015046.7(SETX):c.*1288T>C	noncoding	Benign
9	132263015	C	G	C132263015G	SETX	NM_015046.7(SETX):c.*1224G>C	noncoding	Benign
9	132263091	A	C	A132263091C	SETX	NM_015046.7(SETX):c.*1148T>G	noncoding	Benign
9	132263187	A	T	A132263187T	SETX	NM_015046.7(SETX):c.*1052T>A	noncoding	Benign
9	132263334	T	C	T132263334C	SETX	NM_015046.7(SETX):c.*905A>G	noncoding	Benign/Likely_benign
9	132263390	C	A	C132263390A	SETX	NM_015046.7(SETX):c.*849G>T	noncoding	Benign
9	132263522	A	G	A132263522G	SETX	NM_015046.7(SETX):c.*717T>C	noncoding	Benign
9	132263613	G	A	G132263613A	SETX	NM_015046.7(SETX):c.*626C>T	noncoding	Benign
9	132263677	G	T	G132263677T	SETX	NM_015046.7(SETX):c.*562C>A	noncoding	Benign
9	132263678	T	G	T132263678G	SETX	NM_015046.7(SETX):c.*561A>C	noncoding	Benign
9	132263691	T	A	T132263691A	SETX	NM_015046.7(SETX):c.*548A>T	noncoding	Benign
9	132263764	T	G	T132263764G	SETX	NM_015046.7(SETX):c.*475A>C	noncoding	Benign
9	132263888	C	A	C132263888A	SETX	NM_015046.7(SETX):c.*351G>T	noncoding	Benign
9	132263920	G	A	G132263920A	SETX	NM_015046.7(SETX):c.*319C>T	noncoding	Benign/Likely_benign
9	132264071	G	A	G132264071A	SETX	NM_015046.7(SETX):c.*168C>T	noncoding	Benign/Likely_benign
9	132264368	G	A	G132264368A	SETX	NM_015046.7(SETX):c.7905C>T:p.Ala2635=	coding	Benign
9	132264439	T	C	T132264439C	SETX	NM_015046.7(SETX):c.7834A>G:p.Ser2612Gly	coding	Benign
9	132264455	G	A	G132264455A	SETX	NM_015046.7(SETX):c.7818C>T:p.Gly2606=	coding	Benign
9	132264514	T	C	T132264514C	SETX	NM_015046.7(SETX):c.7759A>G:p.Ile2587Val	coding	Benign
9	132264841	T	G	T132264841G	SETX	NM_015046.7(SETX):c.7432A>C:p.Thr2478Pro	coding	Benign
9	132264902	A	G	A132264902G	SETX	NM_015046.7(SETX):c.7371T>C:p.His2457=	coding	Benign
9	132271795	C	T	C132271795T	SETX	NM_015046.7(SETX):c.7114G>A:p.Asp2372Asn	coding	Benign
9	132271808	T	C	T132271808C	SETX	NM_015046.7(SETX):c.7101A>G:p.Gly2367=	coding	Benign
9	132275229	T	C	T132275229C	SETX	NM_015046.7(SETX):c.7100+27A>G	noncoding	Benign
9	132275447	A	C	A132275447C	SETX	NM_015046.7(SETX):c.6936-27T>G	noncoding	Benign
9	132277052	A	G	A132277052G	SETX	NM_015046.7(SETX):c.6935+8T>C	noncoding	Benign
9	132278281	C	T	C132278281T	SETX	NM_015046.7(SETX):c.6655-24G>A	noncoding	Benign
9	132281483	G	A	G132281483A	SETX	NM_015046.7(SETX):c.6638C>T:p.Pro2213Leu	coding	Pathogenic
9	132281501	T	A	T132281501A	SETX	NM_015046.7(SETX):c.6620A>T:p.Asp2207Val	coding	Pathogenic
9	132283232	A	T	A132283232T	SETX	NM_015046.7(SETX):c.6546+32T>A	noncoding	Benign
9	132283303	C	T	C132283303T	SETX	NM_015046.7(SETX):c.6507G>A:p.Gly2169=	coding	Benign
9	132283346	A	C	A132283346C	SETX	NM_015046.7(SETX):c.6464T>G:p.Leu2155Trp	coding	Pathogenic
9	132288238	G	A	G132288238A	SETX	NM_015046.7(SETX):c.6322C>T:p.Gln2108Ter	coding	Pathogenic
9	132288268	G	A	G132288268A	SETX	NM_015046.7(SETX):c.6292C>T:p.Arg2098Ter	coding	Pathogenic
9	132288292	G	A	G132288292A	SETX	NM_015046.7(SETX):c.6268C>T:p.Gln2090Ter	coding	Pathogenic
9	132288650	T	C	T132288650C	SETX	NM_015046.7(SETX):c.6108A>G:p.Gly2036=	coding	Benign
9	132295858	C	T	C132295858T	SETX	NM_015046.7(SETX):c.6106+14G>A	noncoding	Benign
9	132296907	G	A	G132296907A	SETX	NM_015046.7(SETX):c.5929C>T:p.Leu1977Phe	coding	Pathogenic
9	132296909	A	C	A132296909C	SETX	NM_015046.7(SETX):c.5927T>G:p.Leu1976Arg	coding	Pathogenic
9	132297025	A	G	A132297025G	SETX	NM_015046.7(SETX):c.5811T>C:p.Asp1937=	coding	Benign
9	132298070	C	T	C132298070T	SETX	NM_015046.7(SETX):c.5781+10G>A	noncoding	Benign
9	132298298	T	C	T132298298C	SETX	NM_015046.7(SETX):c.5563A>G:p.Thr1855Ala	coding	Benign
9	132300643	G	A	G132300643A	SETX	NM_015046.7(SETX):c.5535C>T:p.Arg1845=	coding	Benign
9	132311741	G	A	G132311741A	SETX	NM_015046.7(SETX):c.5374+16C>T	noncoding	Benign
9	132311785	G	A	G132311785A	SETX	NM_015046.7(SETX):c.5346C>T:p.Ala1782=	coding	Benign
9	132311899	A	G	A132311899G	SETX	NM_015046.7(SETX):c.5275-43T>C	noncoding	Benign
9	132326331	A	G	A132326331G	SETX	NM_015046.7(SETX):c.5267T>C:p.Phe1756Ser	coding	Pathogenic
9	132326662	G	A	G132326662A	SETX	NM_015046.7(SETX):c.4936C>T:p.Gln1646Ter	coding	Pathogenic
9	132326745	G	C	G132326745C	SETX	NM_015046.7(SETX):c.4853C>G:p.Ser1618Ter	coding	Pathogenic
9	132326782	G	A	G132326782A	SETX	NM_015046.7(SETX):c.4816C>T:p.Arg1606Ter	coding	Pathogenic
9	132326843	A	C	A132326843C	SETX	NM_015046.7(SETX):c.4755T>G:p.Pro1585=	coding	Benign
9	132326938	A	C	A132326938C	SETX	NM_015046.7(SETX):c.4660T>G:p.Cys1554Gly	coding	Benign/Likely_benign
9	132327394	T	A	T132327394A	SETX	NM_015046.7(SETX):c.4204A>T:p.Thr1402Ser	coding	Benign/Likely_benign
9	132327442	T	C	T132327442C	SETX	NM_015046.7(SETX):c.4156A>G:p.Ile1386Val	coding	Benign
9	132327511	G	A	G132327511A	SETX	NM_015046.7(SETX):c.4087C>T:p.Arg1363Ter	coding	Pathogenic
9	132327606	G	A	G132327606A	SETX	NM_015046.7(SETX):c.3992C>T:p.Pro1331Leu	coding	Benign/Likely_benign
9	132327844	C	T	C132327844T	SETX	NM_015046.7(SETX):c.3754G>A:p.Gly1252Arg	coding	Benign
9	132327935	C	G	C132327935G	SETX	NM_015046.7(SETX):c.3663G>C:p.Lys1221Asn	coding	Benign
9	132327947	C	A	C132327947A	SETX	NM_015046.7(SETX):c.3651G>T:p.Thr1217=	coding	Benign
9	132328022	A	C	A132328022C	SETX	NM_015046.7(SETX):c.3576T>G:p.Asp1192Glu	coding	Benign
9	132328030	T	C	T132328030C	SETX	NM_015046.7(SETX):c.3568A>G:p.Lys1190Glu	coding	Benign
9	132328143	A	C	A132328143C	SETX	NM_015046.7(SETX):c.3455T>G:p.Phe1152Cys	coding	Benign
9	132328416	G	A	G132328416A	SETX	NM_015046.7(SETX):c.3182C>T:p.Pro1061Leu	coding	Benign
9	132328451	G	A	G132328451A	SETX	NM_015046.7(SETX):c.3147C>T:p.His1049=	coding	Benign
9	132328495	T	C	T132328495C	SETX	NM_015046.7(SETX):c.3103A>G:p.Lys1035Glu	coding	Benign/Likely_benign
9	132328617	T	C	T132328617C	SETX	NM_015046.7(SETX):c.2981A>G:p.Asp994Gly	coding	Benign/Likely_benign
9	132328623	T	C	T132328623C	SETX	NM_015046.7(SETX):c.2975A>G:p.Lys992Arg	coding	Benign
9	132328926	A	G	A132328926G	SETX	NM_015046.7(SETX):c.2672T>C:p.Val891Ala	coding	Benign/Likely_benign
9	132328996	G	A	G132328996A	SETX	NM_015046.7(SETX):c.2602C>T:p.Gln868Ter	coding	Pathogenic
9	132329266	G	A	G132329266A	SETX	NM_015046.7(SETX):c.2332C>T:p.Arg778Ter	coding	Pathogenic
9	132329382	C	T	C132329382T	SETX	NM_015046.7(SETX):c.2216G>A:p.Gly739Glu	coding	Benign/Likely_benign
9	132329474	A	G	A132329474G	SETX	NM_015046.7(SETX):c.2124T>C:p.Ser708=	coding	Benign
9	132329485	T	G	T132329485G	SETX	NM_015046.7(SETX):c.2113A>C:p.Ile705Leu	coding	Benign
9	132329619	G	C	G132329619C	SETX	NM_015046.7(SETX):c.1979C>G:p.Ala660Gly	coding	Benign
9	132329630	T	C	T132329630C	SETX	NM_015046.7(SETX):c.1968A>G:p.Val656=	coding	Benign
9	132329641	G	T	G132329641T	SETX	NM_015046.7(SETX):c.1957C>A:p.Gln653Lys	coding	Benign
9	132329791	T	C	T132329791C	SETX	NM_015046.7(SETX):c.1807A>G:p.Asn603Asp	coding	Benign
9	132329905	A	G	A132329905G	SETX	NM_015046.7(SETX):c.1693T>C:p.Phe565Leu	coding	Benign/Likely_benign
9	132330206	T	C	T132330206C	SETX	NM_015046.7(SETX):c.1392A>G:p.Ser464=	coding	Benign
9	132330432	A	G	A132330432G	SETX	NM_015046.7(SETX):c.1166T>C:p.Leu389Ser	coding	Pathogenic
9	132331073	A	G	A132331073G	SETX	NM_015046.7(SETX):c.1077T>C:p.Tyr359=	coding	Benign
9	132331123	C	A	C132331123A	SETX	NM_015046.7(SETX):c.1027G>T:p.Glu343Ter	coding	Pathogenic
9	132331293	G	A	G132331293A	SETX	NM_015046.7(SETX):c.994C>T:p.Arg332Trp	coding	Pathogenic
9	132334727	C	T	C132334727T	SETX	NM_015046.7(SETX):c.719G>A:p.Gly240Asp	coding	Pathogenic
9	132336297	T	C	T132336297C	SETX	NM_015046.7(SETX):c.717A>G:p.Leu239=	coding	Benign/Likely_benign
9	132342660	A	G	A132342660G	SETX	NM_015046.7(SETX):c.498+30T>C	noncoding	Benign
9	132342670	C	T	C132342670T	SETX	NM_015046.7(SETX):c.498+20G>A	noncoding	Benign
9	132349370	C	T	C132349370T	SETX	NM_015046.7(SETX):c.59G>A:p.Arg20His	coding	Benign
9	132349406	G	A	G132349406A	SETX	NM_015046.7(SETX):c.23C>T:p.Thr8Met	coding	Pathogenic
9	132398210	C	G	C132398210G	TTF1	NM_007344.4(TTF1):c.1708G>C:p.Asp570His	coding	Benign
9	132400231	A	C	A132400231C	TTF1	NM_007344.4(TTF1):c.1395T>G:p.Asn465Lys	coding	Benign
9	132401709	T	C	T132401709C	TTF1	NM_007344.4(TTF1):c.1113A>G:p.Glu371=	coding	Benign
9	132401882	C	G	C132401882G	TTF1	NM_007344.4(TTF1):c.940G>C:p.Val314Leu	coding	Benign
9	132891337	C	T	C132891337T	TSC1	NM_000368.4(TSC1):c.*4898G>A	noncoding	Benign
9	132891447	T	G	T132891447G	TSC1	NM_000368.5(TSC1):c.*4788A>C	noncoding	Benign
9	132891472	A	G	A132891472G	TSC1	NM_000368.4(TSC1):c.*4763T>C	noncoding	Benign
9	132891798	C	T	C132891798T	TSC1	NM_000368.4(TSC1):c.*4437G>A	noncoding	Benign
9	132891850	C	A	C132891850A	TSC1	NM_000368.4(TSC1):c.*4385G>T	noncoding	Benign
9	132892178	C	T	C132892178T	TSC1	NM_000368.4(TSC1):c.*4057G>A	noncoding	Benign
9	132892247	C	T	C132892247T	TSC1	NM_000368.4(TSC1):c.*3988G>A	noncoding	Benign/Likely_benign
9	132892283	T	C	T132892283C	TSC1	NM_000368.4(TSC1):c.*3952A>G	noncoding	Benign
9	132892506	C	A	C132892506A	TSC1	NM_000368.4(TSC1):c.*3729G>T	noncoding	Benign
9	132892556	C	T	C132892556T	TSC1	NM_000368.4(TSC1):c.*3679G>A	noncoding	Benign
9	132892697	T	C	T132892697C	TSC1	NM_000368.4(TSC1):c.*3538A>G	noncoding	Benign
9	132892787	G	A	G132892787A	TSC1	NM_000368.4(TSC1):c.*3448C>T	noncoding	Benign
9	132893361	C	T	C132893361T	TSC1	NM_000368.4(TSC1):c.*2874G>A	noncoding	Benign
9	132893363	C	T	C132893363T	TSC1	NM_000368.4(TSC1):c.*2872G>A	noncoding	Benign
9	132893502	T	C	T132893502C	TSC1	NM_000368.4(TSC1):c.*2733A>G	noncoding	Benign
9	132893527	C	G	C132893527G	TSC1	NM_000368.4(TSC1):c.*2708G>C	noncoding	Benign
9	132893584	C	A	C132893584A	TSC1	NM_000368.4(TSC1):c.*2651G>T	noncoding	Benign
9	132893607	C	G	C132893607G	TSC1	NM_000368.5(TSC1):c.*2628G>C	noncoding	Benign
9	132893677	T	C	T132893677C	TSC1	NM_000368.4(TSC1):c.*2558A>G	noncoding	Benign
9	132893774	C	T	C132893774T	TSC1	NM_000368.4(TSC1):c.*2461G>A	noncoding	Benign
9	132893817	C	T	C132893817T	TSC1	NM_000368.4(TSC1):c.*2418G>A	noncoding	Benign
9	132893881	T	C	T132893881C	TSC1	NM_000368.5(TSC1):c.*2354A>G	noncoding	Benign
9	132894067	G	A	G132894067A	TSC1	NM_000368.4(TSC1):c.*2168C>T	noncoding	Benign
9	132894093	A	G	A132894093G	TSC1	NM_000368.4(TSC1):c.*2142T>C	noncoding	Benign
9	132894126	G	A	G132894126A	TSC1	NM_000368.4(TSC1):c.*2109C>T	noncoding	Benign/Likely_benign
9	132894301	T	C	T132894301C	TSC1	NM_000368.4(TSC1):c.*1934A>G	noncoding	Benign
9	132894333	A	C	A132894333C	TSC1	NM_000368.4(TSC1):c.*1902T>G	noncoding	Benign
9	132894450	T	C	T132894450C	TSC1	NM_000368.4(TSC1):c.*1785A>G	noncoding	Benign
9	132894727	T	C	T132894727C	TSC1	NM_000368.4(TSC1):c.*1508A>G	noncoding	Benign/Likely_benign
9	132894728	C	T	C132894728T	TSC1	NM_000368.4(TSC1):c.*1507G>A	noncoding	Benign
9	132894747	G	A	G132894747A	TSC1	NM_000368.4(TSC1):c.*1488C>T	noncoding	Benign
9	132894748	G	A	G132894748A	TSC1	NM_000368.4(TSC1):c.*1487C>T	noncoding	Benign
9	132894767	G	A	G132894767A	TSC1	NM_000368.4(TSC1):c.*1468C>T	noncoding	Benign
9	132894863	A	C	A132894863C	TSC1	NM_000368.4(TSC1):c.*1372T>G	noncoding	Benign
9	132894913	G	A	G132894913A	TSC1	NM_000368.4(TSC1):c.*1322C>T	noncoding	Benign
9	132894960	A	C	A132894960C	TSC1	NM_000368.4(TSC1):c.*1275T>G	noncoding	Benign
9	132895108	G	A	G132895108A	TSC1	NM_000368.5(TSC1):c.*1127C>T	noncoding	Benign
9	132895183	C	T	C132895183T	TSC1	NM_000368.4(TSC1):c.*1052G>A	noncoding	Benign
9	132895322	G	A	G132895322A	TSC1	NM_000368.4(TSC1):c.*913C>T	noncoding	Benign
9	132895394	G	A	G132895394A	TSC1	NM_000368.4(TSC1):c.*841C>T	noncoding	Benign
9	132895553	G	A	G132895553A	TSC1	NM_000368.4(TSC1):c.*682C>T	noncoding	Benign
9	132895584	G	C	G132895584C	TSC1	NM_000368.4(TSC1):c.*651C>G	noncoding	Benign
9	132895830	T	C	T132895830C	TSC1	NM_000368.4(TSC1):c.*405A>G	noncoding	Benign
9	132895859	G	A	G132895859A	TSC1	NM_000368.4(TSC1):c.*376C>T	noncoding	Benign
9	132895877	G	A	G132895877A	TSC1	NM_000368.4(TSC1):c.*358C>T	noncoding	Benign
9	132895940	G	C	G132895940C	TSC1	NM_000368.4(TSC1):c.*295C>G	noncoding	Benign
9	132896037	A	G	A132896037G	TSC1	NM_000368.4(TSC1):c.*198T>C	noncoding	Benign
9	132896128	A	G	A132896128G	TSC1	NM_000368.4(TSC1):c.*107T>C	noncoding	Benign
9	132896294	C	A	C132896294A	TSC1	NM_000368.4(TSC1):c.3436G>T:p.Asp1146Tyr	coding	Benign/Likely_benign
9	132896295	C	T	C132896295T	TSC1	NM_000368.4(TSC1):c.3435G>A:p.Pro1145=	coding	Benign/Likely_benign
9	132896310	C	T	C132896310T	TSC1	NM_000368.4(TSC1):c.3420G>A:p.Pro1140=	coding	Benign/Likely_benign
9	132896316	A	G	A132896316G	TSC1	NM_000368.4(TSC1):c.3414T>C:p.Pro1138=	coding	Benign/Likely_benign
9	132896325	T	C	T132896325C	TSC1	NM_000368.4(TSC1):c.3405A>G:p.Leu1135=	coding	Benign/Likely_benign
9	132896328	G	A	G132896328A	TSC1	NM_000368.4(TSC1):c.3402C>T:p.Asn1134=	coding	Benign
9	132896374	G	A	G132896374A	TSC1	NM_000368.4(TSC1):c.3356C>T:p.Thr1119Ile	coding	Benign
9	132896406	G	A	G132896406A	TSC1	NM_000368.5(TSC1):c.3324C>T	coding	Benign/Likely_benign
9	132896411	C	T	C132896411T	TSC1	NM_000368.4(TSC1):c.3319G>A:p.Asp1107Asn	coding	Benign
9	132896427	C	T	C132896427T	TSC1	NM_000368.4(TSC1):c.3303G>A:p.Glu1101=	coding	Benign/Likely_benign
9	132896448	C	T	C132896448T	TSC1	NM_000368.4(TSC1):c.3282G>A:p.Glu1094=	coding	Benign
9	132896520	C	T	C132896520T	TSC1	NM_000368.4(TSC1):c.3210G>A:p.Ala1070=	coding	Benign/Likely_benign
9	132896535	C	T	C132896535T	TSC1	NM_000368.4(TSC1):c.3195G>A:p.Thr1065=	coding	Benign
9	132896536	G	A	G132896536A	TSC1	NM_000368.4(TSC1):c.3194C>T:p.Thr1065Met	coding	Benign/Likely_benign
9	132896558	G	T	G132896558T	TSC1	NM_000368.4(TSC1):c.3172C>A:p.Pro1058Thr	coding	Benign
9	132896601	G	A	G132896601A	TSC1	NM_000368.4(TSC1):c.3129C>T:p.Ser1043=	coding	Benign/Likely_benign
9	132896618	T	C	T132896618C	TSC1	NM_000368.4(TSC1):c.3112A>G:p.Ser1038Gly	coding	Benign/Likely_benign
9	132896654	C	T	C132896654T	TSC1	NM_000368.4(TSC1):c.3076G>A:p.Ala1026Thr	coding	Benign/Likely_benign
9	132896662	G	A	G132896662A	TSC1	NM_000368.4(TSC1):c.3068C>T:p.Pro1023Leu	coding	Benign
9	132896685	G	A	G132896685A	TSC1	NM_000368.5(TSC1):c.3045C>T:p.Asn1015=	coding	Benign/Likely_benign
9	132896748	G	A	G132896748A	TSC1	NM_000368.4(TSC1):c.2982C>T:p.Asp994=	coding	Benign/Likely_benign
9	132897229	T	C	T132897229C	TSC1	NM_000368.4(TSC1):c.2930A>G:p.Lys977Arg	coding	Benign
9	132897258	G	A	G132897258A	TSC1	NM_000368.4(TSC1):c.2901C>T:p.Gly967=	coding	Benign
9	132897293	G	A	G132897293A	TSC1	NM_000368.4(TSC1):c.2866C>T:p.Gln956Ter	coding	Pathogenic
9	132897294	G	A	G132897294A	TSC1	NM_000368.5(TSC1):c.2865C>T:p.Thr955=	coding	Benign/Likely_benign
9	132897330	G	A	G132897330A	TSC1	NM_000368.5(TSC1):c.2829C>T:p.Ala943=	coding	Benign/Likely_benign
9	132897341	G	A	G132897341A	TSC1	NM_000368.5(TSC1):c.2818C>T:p.Gln940Ter	coding	Pathogenic/Likely_pathogenic
9	132897430	G	A	G132897430A	TSC1	NM_000368.4(TSC1):c.2806C>T:p.Gln936Ter	coding	Pathogenic/Likely_pathogenic
9	132897520	G	A	G132897520A	TSC1	NM_000368.4(TSC1):c.2716C>T:p.Gln906Ter	coding	Pathogenic
9	132897536	C	T	C132897536T	TSC1	NM_000368.4(TSC1):c.2700G>A:p.Gln900=	coding	Benign/Likely_benign
9	132897538	G	A	G132897538A	TSC1	NM_000368.5(TSC1):c.2698C>T:p.Gln900Ter	coding	Pathogenic
9	132897540	G	C	G132897540C	TSC1	NM_000368.5(TSC1):c.2696C>G	coding	Benign/Likely_benign
9	132897544	G	A	G132897544A	TSC1	NM_000368.4(TSC1):c.2692C>T:p.Gln898Ter	coding	Pathogenic
9	132897547	G	A	G132897547A	TSC1	NM_000368.4(TSC1):c.2689C>T:p.Gln897Ter	coding	Pathogenic
9	132897559	T	G	T132897559G	TSC1	NM_000368.4(TSC1):c.2677A>C:p.Ser893Arg	coding	Benign
9	132897580	T	A	T132897580A	TSC1	NM_000368.4(TSC1):c.2656A>T:p.Lys886Ter	coding	Pathogenic
9	132897589	C	T	C132897589T	TSC1	NM_000368.4(TSC1):c.2647G>A:p.Ala883Thr	coding	Benign/Likely_benign
9	132897595	T	A	T132897595A	TSC1	NM_000368.4(TSC1):c.2641A>T:p.Lys881Ter	coding	Pathogenic
9	132897610	C	A	C132897610A	TSC1	NM_001162427.2(TSC1):c.2473G>T:p.Glu825Ter	coding	Pathogenic
9	132897611	C	T	C132897611T	TSC1	NM_000368.5(TSC1):c.2626-1G>A	coding	Pathogenic
9	132897615	A	G	A132897615G	TSC1	NM_000368.5(TSC1):c.2626-5T>C	noncoding	Benign
9	132900647	C	T	C132900647T	TSC1	NM_000368.4(TSC1):c.2625+68G>A	noncoding	Benign
9	132900735	T	A	T132900735A	TSC1	NM_000368.5(TSC1):c.2605A>T:p.Lys869Ter	coding	Pathogenic
9	132900736	G	A	G132900736A	TSC1	NM_000368.4(TSC1):c.2604C>T:p.Asn868=	coding	Benign/Likely_benign
9	132900747	G	A	G132900747A	TSC1	NM_000368.4(TSC1):c.2593C>T:p.Gln865Ter	coding	Pathogenic
9	132900750	C	A	C132900750A	TSC1	NM_000368.5(TSC1):c.2590G>T:p.Glu864Ter	coding	Pathogenic
9	132900789	G	A	G132900789A	TSC1	NM_000368.5(TSC1):c.2551C>T:p.Gln851Ter	coding	Pathogenic
9	132900810	G	A	G132900810A	TSC1	NM_000368.4(TSC1):c.2530C>T:p.Gln844Ter	coding	Pathogenic
9	132900816	G	A	G132900816A	TSC1	NM_000368.4(TSC1):c.2524C>T:p.Gln842Ter	coding	Pathogenic
9	132900820	C	T	C132900820T	TSC1	NM_000368.4(TSC1):c.2520G>A:p.Ser840=	coding	Benign
9	132900833	G	C	G132900833C	TSC1	NM_000368.4(TSC1):c.2507C>G:p.Ser836Ter	coding	Pathogenic
9	132900835	G	A	G132900835A	TSC1	NM_000368.4(TSC1):c.2505C>T:p.Leu835=	coding	Benign/Likely_benign
9	132900839	T	C	T132900839C	TSC1	NM_000368.4(TSC1):c.2503-2A>G	noncoding	Pathogenic
9	132901538	T	C	T132901538C	TSC1	NM_000368.4(TSC1):c.2502+51A>G	noncoding	Benign
9	132901571	T	G	T132901571G	TSC1	NM_000368.4(TSC1):c.2502+18A>C	noncoding	Benign
9	132901603	G	A	G132901603A	TSC1	NM_000368.4(TSC1):c.2488C>T:p.Gln830Ter	coding	Pathogenic
9	132901606	T	G	T132901606G	TSC1	NM_000368.4(TSC1):c.2485A>C:p.Ser829Arg	coding	Benign/Likely_benign
9	132901613	C	G	C132901613G	TSC1	NM_000368.4(TSC1):c.2478G>C:p.Leu826=	coding	Benign/Likely_benign
9	132901645	T	A	T132901645A	TSC1	NM_000368.5(TSC1):c.2446A>T:p.Lys816Ter	coding	Pathogenic
9	132901666	C	G	C132901666G	TSC1	NM_000368.4(TSC1):c.2425G>C:p.Glu809Gln	coding	Benign/Likely_benign
9	132901667	C	T	C132901667T	TSC1	NM_000368.4(TSC1):c.2424G>A:p.Ala808=	coding	Benign/Likely_benign
9	132901668	G	A	G132901668A	TSC1	NM_000368.4(TSC1):c.2423C>T:p.Ala808Val	coding	Benign/Likely_benign
9	132901690	C	A	C132901690A	TSC1	NM_000368.4(TSC1):c.2401G>T:p.Glu801Ter	coding	Pathogenic
9	132901715	T	C	T132901715C	TSC1	NM_000368.4(TSC1):c.2392-16A>G	noncoding	Benign
9	132901734	A	G	A132901734G	TSC1	NM_000368.5(TSC1):c.2392-35T>C	noncoding	Benign
9	132902607	G	A	G132902607A	TSC1	NM_000368.4(TSC1):c.2389C>T:p.Gln797Ter	coding	Pathogenic
9	132902616	G	A	G132902616A	TSC1	NM_000368.4(TSC1):c.2380C>T:p.Gln794Ter	coding	Pathogenic
9	132902634	C	A	C132902634A	TSC1	NM_000368.4(TSC1):c.2362G>T:p.Glu788Ter	coding	Pathogenic
9	132902640	G	A	G132902640A	TSC1	NM_000368.5(TSC1):c.2356C>T:p.Arg786Ter	coding	Pathogenic
9	132902649	G	A	G132902649A	TSC1	NM_000368.5(TSC1):c.2347C>T	coding	Pathogenic
9	132902655	G	A	G132902655A	TSC1	NM_000368.4(TSC1):c.2341C>T:p.Gln781Ter	coding	Pathogenic
9	132902703	G	A	G132902703A	TSC1	NM_000368.4(TSC1):c.2293C>T:p.Gln765Ter	coding	Pathogenic
9	132902709	G	A	G132902709A	TSC1	NM_000368.4(TSC1):c.2287C>T:p.Gln763Ter	coding	Pathogenic
9	132902713	G	T	G132902713T	TSC1	NM_000368.5(TSC1):c.2283C>A	coding	Pathogenic
9	132902724	G	A	G132902724A	TSC1	NM_000368.4(TSC1):c.2272C>T:p.Gln758Ter	coding	Pathogenic
9	132902733	G	A	G132902733A	TSC1	NM_000368.5(TSC1):c.2263C>T:p.Gln755Ter	coding	Pathogenic
9	132902747	C	T	C132902747T	TSC1	NM_000368.4(TSC1):c.2249G>A:p.Trp750Ter	coding	Pathogenic
9	132902754	G	A	G132902754A	TSC1	NM_000368.4(TSC1):c.2242C>T:p.Gln748Ter	coding	Pathogenic
9	132902769	G	A	G132902769A	TSC1	NM_000368.5(TSC1):c.2227C>T	coding	Pathogenic
9	132902781	G	A	G132902781A	TSC1	NM_000368.4(TSC1):c.2215C>T:p.Gln739Ter	coding	Pathogenic
9	132903480	T	C	T132903480C	TSC1	NM_000368.4(TSC1):c.2208+171A>G	noncoding	Benign
9	132903649	A	T	A132903649T	TSC1	NM_000368.4(TSC1):c.2208+2T>A	noncoding	Pathogenic/Likely_pathogenic
9	132903728	G	A	G132903728A	TSC1	NM_000368.4(TSC1):c.2131C>T:p.Gln711Ter	coding	Pathogenic
9	132903731	G	A	G132903731A	TSC1	NM_000368.4(TSC1):c.2128C>T:p.Gln710Ter	coding	Pathogenic
9	132903747	A	C	A132903747C	TSC1	NM_000368.5(TSC1):c.2112T>G:p.Tyr704Ter	coding	Pathogenic
9	132903747	A	T	A132903747T	TSC1	NM_000368.5(TSC1):c.2112T>A	coding	Pathogenic
9	132903758	G	A	G132903758A	TSC1	NM_000368.5(TSC1):c.2101C>T:p.Gln701Ter	coding	Pathogenic
9	132903785	G	A	G132903785A	TSC1	NM_000368.5(TSC1):c.2074C>T:p.Arg692Ter	coding	Pathogenic
9	132904410	C	T	C132904410T	TSC1	NM_000368.5(TSC1):c.2041+1G>A	noncoding	Pathogenic
9	132904418	G	A	G132904418A	TSC1	NM_000368.4(TSC1):c.2034C>T:p.His678=	coding	Benign/Likely_benign
9	132904425	C	T	C132904425T	TSC1	NM_000368.4(TSC1):c.2027G>A:p.Trp676Ter	coding	Pathogenic
9	132904446	A	C	A132904446C	TSC1	NM_000368.4(TSC1):c.2006T>G:p.Leu669Ter	coding	Pathogenic
9	132904455	C	A	C132904455A	TSC1	NM_000368.4(TSC1):c.1998-1G>T	coding	Pathogenic
9	132904456	T	C	T132904456C	TSC1	NM_000368.4(TSC1):c.1998-2A>G	noncoding	Pathogenic
9	132904473	A	C	A132904473C	TSC1	NM_000368.4(TSC1):c.1998-19T>G	noncoding	Benign
9	132905580	C	T	C132905580T	TSC1	NM_000368.4(TSC1):c.1997+1G>A	noncoding	Pathogenic
9	132905581	T	C	T132905581C	TSC1	NM_000368.4(TSC1):c.1997A>G:p.Lys666Arg	coding	Benign/Likely_benign
9	132905582	T	A	T132905582A	TSC1	NM_000368.5(TSC1):c.1996A>T:p.Lys666Ter	coding	Pathogenic
9	132905591	C	A	C132905591A	TSC1	NM_000368.4(TSC1):c.1987G>T:p.Glu663Ter	coding	Pathogenic
9	132905602	G	A	G132905602A	TSC1	NM_000368.4(TSC1):c.1976C>T:p.Ala659Val	coding	Benign/Likely_benign
9	132905604	G	A	G132905604A	TSC1	NM_000368.4(TSC1):c.1974C>T:p.Asp658=	coding	Benign/Likely_benign
9	132905615	G	A	G132905615A	TSC1	NM_000368.4(TSC1):c.1963C>T:p.Gln655Ter	coding	Pathogenic
9	132905618	G	A	G132905618A	TSC1	NM_000368.5(TSC1):c.1960C>T	coding	Pathogenic
9	132905639	C	A	C132905639A	TSC1	NM_000368.5(TSC1):c.1939G>T:p.Glu647Ter	coding	Pathogenic
9	132905642	T	C	T132905642C	TSC1	NM_000368.5(TSC1):c.1936A>G	coding	Benign/Likely_benign
9	132905730	G	A	G132905730A	TSC1	NM_000368.4(TSC1):c.1848C>T:p.Ala616=	coding	Benign
9	132905760	A	T	A132905760T	TSC1	NM_000368.4(TSC1):c.1818T>A:p.His606Gln	coding	Benign
9	132905770	G	A	G132905770A	TSC1	NM_000368.4(TSC1):c.1808C>T:p.Pro603Leu	coding	Benign/Likely_benign
9	132905784	G	A	G132905784A	TSC1	NM_000368.4(TSC1):c.1794C>T:p.Ser598=	coding	Benign/Likely_benign
9	132905805	C	T	C132905805T	TSC1	NM_000368.4(TSC1):c.1773G>A:p.Pro591=	coding	Benign/Likely_benign
9	132905806	G	A	G132905806A	TSC1	NM_000368.4(TSC1):c.1772C>T:p.Pro591Leu	coding	Benign
9	132905806	G	T	G132905806T	TSC1	NM_000368.4(TSC1):c.1772C>A:p.Pro591Gln	coding	Benign/Likely_benign
9	132905807	G	A	G132905807A	TSC1	NM_000368.4(TSC1):c.1771C>T:p.Pro591Ser	coding	Benign
9	132905818	T	C	T132905818C	TSC1	NM_000368.5(TSC1):c.1760A>G:p.Lys587Arg	coding	Benign
9	132905819	T	A	T132905819A	TSC1	NM_000368.5(TSC1):c.1759A>T	coding	Pathogenic
9	132905852	A	G	A132905852G	TSC1	NM_000368.4(TSC1):c.1726T>C:p.Leu576=	coding	Benign
9	132905877	C	T	C132905877T	TSC1	NM_000368.4(TSC1):c.1701G>A:p.Ala567=	coding	Benign/Likely_benign
9	132905878	G	A	G132905878A	TSC1	NM_000368.4(TSC1):c.1700C>T:p.Ala567Val	coding	Benign/Likely_benign
9	132905901	G	A	G132905901A	TSC1	NM_000368.4(TSC1):c.1677C>T:p.Cys559=	coding	Benign/Likely_benign
9	132905901	G	T	G132905901T	TSC1	NM_000368.5(TSC1):c.1677C>A:p.Cys559Ter	coding	Pathogenic
9	132905930	G	C	G132905930C	TSC1	NM_000368.4(TSC1):c.1648C>G:p.Gln550Glu	coding	Benign/Likely_benign
9	132905954	T	A	T132905954A	TSC1	NM_000368.5(TSC1):c.1624A>T:p.Lys542Ter	coding	Pathogenic
9	132905993	C	T	C132905993T	TSC1	NM_000368.4(TSC1):c.1585G>A:p.Ala529Thr	coding	Benign/Likely_benign
9	132905994	G	A	G132905994A	TSC1	NM_000368.4(TSC1):c.1584C>T:p.Gly528=	coding	Benign/Likely_benign
9	132905999	G	A	G132905999A	TSC1	NM_000368.4(TSC1):c.1579C>T:p.Gln527Ter	coding	Pathogenic/Likely_pathogenic
9	132906004	C	G	C132906004G	TSC1	NM_000368.5(TSC1):c.1574G>C:p.Ser525Thr	coding	Benign
9	132906011	C	G	C132906011G	TSC1	NM_000368.4(TSC1):c.1567G>C:p.Ala523Pro	coding	Benign/Likely_benign
9	132906032	G	A	G132906032A	TSC1	NM_000368.4(TSC1):c.1546C>T:p.Gln516Ter	coding	Pathogenic
9	132906050	C	T	C132906050T	TSC1	NM_000368.4(TSC1):c.1528G>A:p.Asp510Asn	coding	Benign
9	132906052	C	T	C132906052T	TSC1	NM_000368.4(TSC1):c.1526G>A:p.Arg509Gln	coding	Benign/Likely_benign
9	132906053	G	A	G132906053A	TSC1	NM_000368.5(TSC1):c.1525C>T:p.Arg509Ter	coding	Pathogenic
9	132906072	G	A	G132906072A	TSC1	NM_000368.4(TSC1):c.1506C>T:p.Gly502=	coding	Benign/Likely_benign
9	132906075	T	G	T132906075G	TSC1	NM_000368.4(TSC1):c.1503A>C:p.Gly501=	coding	Benign/Likely_benign
9	132906080	G	A	G132906080A	TSC1	NM_000368.5(TSC1):c.1498C>T	coding	Pathogenic
9	132906089	C	G	C132906089G	TSC1	NM_000368.4(TSC1):c.1489G>C:p.Val497Leu	coding	Benign
9	132906125	C	A	C132906125A	TSC1	NM_000368.4(TSC1):c.1453G>T:p.Glu485Ter	coding	Pathogenic
9	132906176	G	A	G132906176A	TSC1	NM_000368.4(TSC1):c.1439-37C>T	noncoding	Benign
9	132906827	G	A	G132906827A	TSC1	NM_000368.4(TSC1):c.1342C>T:p.Pro448Ser	coding	Benign/Likely_benign
9	132906833	C	A	C132906833A	TSC1	NM_000368.5(TSC1):c.1336G>T:p.Glu446Ter	coding	Pathogenic
9	132906834	T	C	T132906834C	TSC1	NM_000368.5(TSC1):c.1335A>G:p.Glu445=	coding	Benign
9	132907296	T	C	T132907296C	TSC1	NM_000368.4(TSC1):c.1333+5A>G	noncoding	Benign/Likely_benign
9	132907371	C	T	C132907371T	TSC1	NM_000368.4(TSC1):c.1264-1G>A	coding	Pathogenic
9	132907379	A	G	A132907379G	TSC1	NM_000368.4(TSC1):c.1264-9T>C	noncoding	Benign/Likely_benign
9	132910465	C	T	C132910465T	TSC1	NM_000368.4(TSC1):c.1263+106G>A	noncoding	Benign
9	132910483	T	C	T132910483C	TSC1	NM_000368.4(TSC1):c.1263+88A>G	noncoding	Benign
9	132910578	G	C	G132910578C	TSC1	NM_000368.4(TSC1):c.1256C>G:p.Pro419Arg	coding	Benign
9	132910615	C	T	C132910615T	TSC1	NM_000368.4(TSC1):c.1219G>A:p.Val407Met	coding	Benign/Likely_benign
9	132910616	G	A	G132910616A	TSC1	NM_000368.4(TSC1):c.1218C>T:p.Tyr406=	coding	Benign/Likely_benign
9	132910617	T	C	T132910617C	TSC1	NM_000368.4(TSC1):c.1217A>G:p.Tyr406Cys	coding	Benign
9	132910625	C	T	C132910625T	TSC1	NM_000368.4(TSC1):c.1209G>A:p.Ser403=	coding	Benign/Likely_benign
9	132910626	G	T	G132910626T	TSC1	NM_000368.4(TSC1):c.1208C>A:p.Ser403Ter	coding	Pathogenic
9	132910669	C	A	C132910669A	TSC1	NM_000368.4(TSC1):c.1165G>T:p.Gly389Ter	coding	Pathogenic
9	132910725	T	C	T132910725C	TSC1	NM_000368.4(TSC1):c.1142-33A>G	noncoding	Benign
9	132910992	A	G	A132910992G	TSC1	NM_000368.4(TSC1):c.1141+10T>C	noncoding	Benign
9	132911030	G	A	G132911030A	TSC1	NM_000368.4(TSC1):c.1113C>T:p.His371=	coding	Benign/Likely_benign
9	132911033	T	A	T132911033A	TSC1	NM_000368.4(TSC1):c.1110A>T:p.Ser370=	coding	Benign/Likely_benign
9	132911064	G	T	G132911064T	TSC1	NM_000368.4(TSC1):c.1079C>A:p.Thr360Asn	coding	Benign/Likely_benign
9	132911089	C	T	C132911089T	TSC1	NM_000368.4(TSC1):c.1054G>A:p.Val352Ile	coding	Benign/Likely_benign
9	132911452	C	T	C132911452T	TSC1	NM_000368.4(TSC1):c.1029+1G>A	noncoding	Pathogenic
9	132911462	T	C	T132911462C	TSC1	NM_000368.4(TSC1):c.1020A>G:p.Glu340=	coding	Benign
9	132911475	C	T	C132911475T	TSC1	NM_000368.4(TSC1):c.1007G>A:p.Arg336Gln	coding	Benign/Likely_benign
9	132911476	G	A	G132911476A	TSC1	NM_000368.4(TSC1):c.1006C>T:p.Arg336Trp	coding	Benign/Likely_benign
9	132911480	C	T	C132911480T	TSC1	NM_000368.4(TSC1):c.1002G>A:p.Ser334=	coding	Benign/Likely_benign
9	132911481	G	A	G132911481A	TSC1	NM_000368.4(TSC1):c.1001C>T:p.Ser334Leu	coding	Benign/Likely_benign
9	132911500	G	A	G132911500A	TSC1	NM_000368.4(TSC1):c.982C>T:p.Gln328Ter	coding	Pathogenic/Likely_pathogenic
9	132911509	G	A	G132911509A	TSC1	NM_000368.5(TSC1):c.973C>T:p.Gln325Ter	coding	Pathogenic
9	132911517	A	G	A132911517G	TSC1	NM_000368.5(TSC1):c.965T>C:p.Met322Thr	coding	Benign
9	132911562	G	A	G132911562A	TSC1	NM_000368.5(TSC1):c.920C>T:p.Ala307Val	coding	Benign
9	132911567	C	G	C132911567G	TSC1	NM_000368.4(TSC1):c.915G>C:p.Gly305=	coding	Benign/Likely_benign
9	132911567	C	T	C132911567T	TSC1	NM_000368.4(TSC1):c.915G>A:p.Gly305=	coding	Benign/Likely_benign
9	132911570	T	C	T132911570C	TSC1	NM_000368.4(TSC1):c.914-2A>G	noncoding	Pathogenic
9	132912281	C	T	C132912281T	TSC1	NM_000368.4(TSC1):c.913+1G>A	noncoding	Pathogenic
9	132912283	A	G	A132912283G	TSC1	NM_000368.4(TSC1):c.912T>C:p.Tyr304=	coding	Benign
9	132912294	G	A	G132912294A	TSC1	NM_000368.4(TSC1):c.901C>T:p.Gln301Ter	coding	Pathogenic
9	132912319	G	A	G132912319A	TSC1	NM_000368.4(TSC1):c.876C>T:p.Val292=	coding	Benign
9	132912329	G	C	G132912329C	TSC1	NM_000368.5(TSC1):c.866C>G:p.Ser289Ter	coding	Pathogenic
9	132912342	A	C	A132912342C	TSC1	NM_000368.4(TSC1):c.853T>G:p.Phe285Val	coding	Benign/Likely_benign
9	132912355	T	C	T132912355C	TSC1	NM_000368.4(TSC1):c.840A>G:p.Gln280=	coding	Benign/Likely_benign
9	132912365	A	G	A132912365G	TSC1	NM_000368.4(TSC1):c.830T>C:p.Val277Ala	coding	Benign
9	132912370	A	C	A132912370C	TSC1	NM_000368.4(TSC1):c.825T>G:p.Tyr275Ter	coding	Pathogenic
9	132912382	A	C	A132912382C	TSC1	NM_000368.5(TSC1):c.813T>G:p.Tyr271Ter	coding	Pathogenic
9	132912385	T	C	T132912385C	TSC1	NM_000368.4(TSC1):c.810A>G:p.Ser270=	coding	Benign/Likely_benign
9	132912386	G	T	G132912386T	TSC1	NM_000368.5(TSC1):c.809C>A:p.Ser270Ter	coding	Pathogenic
9	132912397	G	A	G132912397A	TSC1	NM_000368.4(TSC1):c.798C>T:p.Pro266=	coding	Benign/Likely_benign
9	132912423	C	A	C132912423A	TSC1	NM_000368.4(TSC1):c.772G>T:p.Glu258Ter	coding	Pathogenic
9	132912444	C	A	C132912444A	TSC1	NM_000368.4(TSC1):c.751G>T:p.Glu251Ter	coding	Pathogenic
9	132912446	A	T	A132912446T	TSC1	NM_000368.4(TSC1):c.749T>A:p.Leu250Ter	coding	Pathogenic
9	132912455	C	T	C132912455T	TSC1	NM_000368.5(TSC1):c.740G>A:p.Trp247Ter	coding	Pathogenic
9	132912458	C	T	C132912458T	TSC1	NM_000368.4(TSC1):c.738-1G>A	coding	Pathogenic
9	132912459	T	A	T132912459A	TSC1	NM_000368.4(TSC1):c.738-2A>T	noncoding	Pathogenic
9	132912459	T	C	T132912459C	TSC1	NM_000368.4(TSC1):c.738-2A>G	noncoding	Pathogenic
9	132921362	C	A	C132921362A	TSC1	NM_000368.4(TSC1):c.737+1G>T	noncoding	Pathogenic
9	132921362	C	T	C132921362T	TSC1	NM_000368.4(TSC1):c.737+1G>A	noncoding	Pathogenic
9	132921366	C	T	C132921366T	TSC1	NM_000368.4(TSC1):c.734G>A:p.Arg245Gln	coding	Benign
9	132921367	G	A	G132921367A	TSC1	NM_000368.5(TSC1):c.733C>T:p.Arg245Ter	coding	Pathogenic/Likely_pathogenic
9	132921402	A	C	A132921402C	TSC1	NM_000368.5(TSC1):c.698T>G:p.Leu233Ter	coding	Pathogenic
9	132921418	G	A	G132921418A	TSC1	NM_000368.5(TSC1):c.682C>T:p.Arg228Ter	coding	Pathogenic
9	132921437	C	G	C132921437G	TSC1	NM_000368.4(TSC1):c.664-1G>C	coding	Pathogenic
9	132921437	C	T	C132921437T	TSC1	NM_000368.4(TSC1):c.664-1G>A	coding	Pathogenic/Likely_pathogenic
9	132921438	T	C	T132921438C	TSC1	NM_000368.5(TSC1):c.664-2A>G	noncoding	Pathogenic
9	132921451	T	C	T132921451C	TSC1	NM_000368.4(TSC1):c.664-15A>G	noncoding	Pathogenic
9	132921818	C	T	C132921818T	TSC1	NM_000368.4(TSC1):c.663+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	132921821	T	A	T132921821A	TSC1	NM_000368.4(TSC1):c.661A>T:p.Lys221Ter	coding	Pathogenic
9	132921864	A	G	A132921864G	TSC1	NM_000368.4(TSC1):c.618T>C:p.His206=	coding	Benign/Likely_benign
9	132921867	A	G	A132921867G	TSC1	NM_000368.4(TSC1):c.615T>C:p.Ser205=	coding	Benign/Likely_benign
9	132921885	G	A	G132921885A	TSC1	NM_000368.4(TSC1):c.597C>T:p.Phe199=	coding	Benign/Likely_benign
9	132921914	G	A	G132921914A	TSC1	NM_001162426.2(TSC1):c.568C>T:p.Arg190Cys	coding	Benign/Likely_benign
9	132921927	G	A	G132921927A	TSC1	NM_000368.4(TSC1):c.555C>T:p.Tyr185=	coding	Benign/Likely_benign
9	132921927	G	C	G132921927C	TSC1	NM_000368.4(TSC1):c.555C>G:p.Tyr185Ter	coding	Pathogenic
9	132921930	C	G	C132921930G	TSC1	NM_000368.4(TSC1):c.552G>C:p.Val184=	coding	Benign/Likely_benign
9	132921943	A	G	A132921943G	TSC1	NM_000368.4(TSC1):c.539T>C:p.Leu180Pro	coding	Pathogenic
9	132921955	T	C	T132921955C	TSC1	NM_000368.4(TSC1):c.527A>G:p.Tyr176Cys	coding	Benign
9	132921969	G	A	G132921969A	TSC1	NM_000368.4(TSC1):c.513C>T:p.His171=	coding	Benign/Likely_benign
9	132923361	G	T	G132923361T	TSC1	NM_000368.4(TSC1):c.495C>A:p.Cys165Ter	coding	Pathogenic
9	132923364	C	T	C132923364T	TSC1	NM_000368.4(TSC1):c.492G>A:p.Trp164Ter	coding	Pathogenic
9	132923365	C	T	C132923365T	TSC1	NM_000368.4(TSC1):c.491G>A:p.Trp164Ter	coding	Pathogenic
9	132923411	G	A	G132923411A	TSC1	NM_000368.4(TSC1):c.445C>T:p.Gln149Ter	coding	Pathogenic
9	132923478	G	A	G132923478A	TSC1	NM_000368.4(TSC1):c.378C>T:p.Val126=	coding	Benign/Likely_benign
9	132923480	C	T	C132923480T	TSC1	NM_000368.4(TSC1):c.376G>A:p.Val126Ile	coding	Benign
9	132923486	T	C	T132923486C	TSC1	NM_000368.4(TSC1):c.370A>G:p.Thr124Ala	coding	Benign
9	132923494	T	C	T132923494C	TSC1	NM_000368.5(TSC1):c.364-2A>G	noncoding	Pathogenic
9	132925625	G	A	G132925625A	TSC1	NM_000368.4(TSC1):c.325C>T:p.Gln109Ter	coding	Pathogenic
9	132925652	G	A	G132925652A	TSC1	NM_000368.5(TSC1):c.298C>T:p.Gln100Ter	coding	Pathogenic
9	132925677	C	T	C132925677T	TSC1	NM_000368.4(TSC1):c.273G>A:p.Ser91=	coding	Benign/Likely_benign
9	132925690	A	C	A132925690C	TSC1	NM_000368.4(TSC1):c.260T>G:p.Leu87Ter	coding	Pathogenic
9	132925700	C	T	C132925700T	TSC1	NM_000368.4(TSC1):c.250G>A:p.Ala84Thr	coding	Benign/Likely_benign
9	132925701	G	A	G132925701A	TSC1	NM_000368.4(TSC1):c.249C>T:p.Ala83=	coding	Benign/Likely_benign
9	132925719	G	A	G132925719A	TSC1	NM_000368.4(TSC1):c.231C>T:p.Asn77=	coding	Benign/Likely_benign
9	132925732	A	T	A132925732T	TSC1	NM_000368.5(TSC1):c.218T>A:p.Leu73Ter	coding	Pathogenic
9	132925740	C	T	C132925740T	TSC1	NM_000368.4(TSC1):c.211-1G>A	coding	Pathogenic
9	132925741	T	G	T132925741G	TSC1	NM_000368.4(TSC1):c.211-2A>C	noncoding	Pathogenic
9	132927168	C	T	C132927168T	TSC1	NM_000368.4(TSC1):c.210+33G>A	noncoding	Benign/Likely_benign
9	132927183	T	C	T132927183C	TSC1	NM_000368.4(TSC1):c.210+18A>G	noncoding	Benign
9	132927196	A	G	A132927196G	TSC1	NM_000368.5(TSC1):c.210+5T>C	noncoding	Benign
9	132927218	G	A	G132927218A	TSC1	NM_000368.5(TSC1):c.193C>T:p.Gln65Ter	coding	Pathogenic
9	132927220	A	T	A132927220T	TSC1	NM_000368.5(TSC1):c.191T>A:p.Leu64Ter	coding	Pathogenic
9	132927235	T	A	T132927235A	TSC1	NM_000368.5(TSC1):c.176A>T:p.His59Leu	coding	Benign
9	132927245	G	A	G132927245A	TSC1	NM_000368.4(TSC1):c.166C>T:p.Pro56Ser	coding	Benign
9	132927281	T	C	T132927281C	TSC1	NM_000368.4(TSC1):c.130A>G:p.Thr44Ala	coding	Benign
9	132927285	T	G	T132927285G	TSC1	NM_000368.4(TSC1):c.126A>C:p.Val42=	coding	Benign/Likely_benign
9	132927305	C	T	C132927305T	TSC1	NM_000368.4(TSC1):c.107-1G>A	coding	Pathogenic
9	132928752	T	C	T132928752C	TSC1	NM_000368.5(TSC1):c.106+15A>G	noncoding	Benign
9	132928804	G	A	G132928804A	TSC1	NM_000368.4(TSC1):c.69C>T:p.Asp23=	coding	Benign
9	132928808	C	T	C132928808T	TSC1	NM_000368.4(TSC1):c.65G>A:p.Arg22Gln	coding	Benign
9	132928852	G	A	G132928852A	TSC1	NM_000368.4(TSC1):c.21C>T:p.Val7=	coding	Benign/Likely_benign
9	132928852	G	C	G132928852C	TSC1	NM_000368.4(TSC1):c.21C>G:p.Val7=	coding	Benign/Likely_benign
9	132928863	G	A	G132928863A	TSC1	NM_000368.4(TSC1):c.10C>T:p.Gln4Ter	coding	Pathogenic
9	132928879	G	A	G132928879A	TSC1	NM_000368.4(TSC1):c.-7C>T	noncoding	Benign/Likely_benign
9	132928892	G	A	G132928892A	TSC1	NM_000368.4(TSC1):c.-20C>T	noncoding	Benign
9	132928907	C	T	C132928907T	TSC1	NM_000368.4(TSC1):c.-35G>A	noncoding	Benign/Likely_benign
9	132928940	G	A	G132928940A	TSC1	NM_000368.4(TSC1):c.-68C>T	noncoding	Benign
9	132935051	G	A	G132935051A	TSC1	NM_000368.4(TSC1):c.-99C>T	noncoding	Benign
9	132935081	T	A	T132935081A	TSC1	NM_000368.4(TSC1):c.-129A>T	noncoding	Benign
9	132986745	G	A	G132986745A	GFI1B	NM_004188.7(GFI1B):c.67G>A:p.Asp23Asn	coding	Benign
9	132986778	G	A	G132986778A	GFI1B	NM_004188.7(GFI1B):c.100G>A:p.Val34Met	coding	Benign
9	132987359	C	A	C132987359A	GFI1B	NM_004188.7(GFI1B):c.178C>A:p.Leu60Ile	coding	Benign
9	132987426	C	T	C132987426T	GFI1B	NM_004188.7(GFI1B):c.238+7C>T	noncoding	Benign
9	132988200	G	T	G132988200T	GFI1B	NM_004188.7(GFI1B):c.242G>T:p.Gly81Val	coding	Benign
9	132988251	C	T	C132988251T	GFI1B	NM_004188.7(GFI1B):c.293C>T:p.Ser98Leu	coding	Benign
9	132988372	C	T	C132988372T	GFI1B	NM_004188.7(GFI1B):c.414C>T:p.Tyr138=	coding	Benign
9	132989126	C	T	C132989126T	GFI1B	NM_004188.7(GFI1B):c.576C>T:p.Phe192=	coding	Benign
9	132989160	G	A	G132989160A	GFI1B	NM_004188.7(GFI1B):c.610G>A:p.Ala204Thr	coding	Benign
9	132989174	G	A	G132989174A	GFI1B	NM_004188.7(GFI1B):c.624G>A:p.Glu208=	coding	Benign
9	132989877	G	A	G132989877A	GFI1B	NM_001377304.1(GFI1B):c.784G>A:p.Asp262Asn	coding	Pathogenic
9	132989886	A	T	A132989886T	GFI1B	NM_004188.8(GFI1B):c.793A>T:p.Lys265Ter	coding	Pathogenic
9	132990916	C	T	C132990916T	GFI1B	NM_004188.8(GFI1B):c.859C>T:p.Gln287Ter	coding	Pathogenic
9	132990980	T	C	T132990980C	GFI1B	NM_004188.8(GFI1B):c.923T>C:p.Leu308Pro	coding	Pathogenic
9	133062009	C	T	C133062009T	CEL	NM_001807.5(CEL):c.7C>T:p.Arg3Cys	coding	Benign/Likely_benign
9	133065052	T	G	T133065052G	CEL	NM_001807.5(CEL):c.353T>G:p.Leu118Arg	coding	Benign
9	133065101	C	G	C133065101G	CEL	NM_001807.6(CEL):c.402C>G:p.Gly134=	coding	Benign
9	133067160	C	G	C133067160G	CEL	NM_001807.6(CEL):c.850C>G:p.Arg284Gly	coding	Benign
9	133068741	A	G	A133068741G	CEL	NM_001807.6(CEL):c.965A>G:p.Asn322Ser	coding	Benign
9	133070628	T	C	T133070628C	CEL	NM_001807.5(CEL):c.1454T>C:p.Ile485Thr	coding	Benign/Likely_benign
9	133071121	G	A	G133071121A	CEL	NM_001807.5(CEL):c.1619G>A:p.Arg540His	coding	Benign
9	133071636	G	A	G133071636A	CEL	NM_001807.5(CEL):c.2134G>A:p.Ala712Thr	coding	Benign
9	133100311	C	T	C133100311T	RALGDS	NM_006266.4(RALGDS):c.2526G>A:p.Glu842=	coding	Benign
9	133101589	C	T	C133101589T	RALGDS	NM_006266.4(RALGDS):c.2385G>A:p.Gln795=	coding	Benign
9	133101995	G	A	G133101995A	RALGDS	NM_006266.4(RALGDS):c.2154C>T:p.Asp718=	coding	Benign
9	133102013	G	A	G133102013A	RALGDS	NM_006266.4(RALGDS):c.2136C>T:p.Ala712=	coding	Benign
9	133102538	G	A	G133102538A	RALGDS	NM_006266.4(RALGDS):c.1947C>T:p.Ser649=	coding	Benign
9	133102841	G	A	G133102841A	RALGDS	NM_006266.4(RALGDS):c.1851C>T:p.Ile617=	coding	Benign
9	133106677	G	A	G133106677A	RALGDS	NM_006266.4(RALGDS):c.1485C>T:p.His495=	coding	Benign
9	133108021	A	G	A133108021G	RALGDS	NM_006266.4(RALGDS):c.1164T>C:p.Asp388=	coding	Benign
9	133108066	G	A	G133108066A	RALGDS	NM_006266.4(RALGDS):c.1119C>T:p.Asn373=	coding	Benign
9	133108698	C	T	C133108698T	RALGDS	NM_006266.4(RALGDS):c.753G>A:p.Ser251=	coding	Benign
9	133109658	G	A	G133109658A	RALGDS	NM_006266.4(RALGDS):c.552C>T:p.Asp184=	coding	Benign
9	133110386	T	C	T133110386C	RALGDS	NM_006266.4(RALGDS):c.398A>G:p.Gln133Arg	coding	Benign
9	133112084	C	A	C133112084A	RALGDS	NM_006266.4(RALGDS):c.252G>T:p.Val84=	coding	Benign
9	133153925	G	A	G133153925A	GBGT1	NM_021996.6(GBGT1):c.696C>T:p.Tyr232=	coding	Benign
9	133255928	C	G	C133255928G	ABO	NM_020469.3(ABO):c.803G>C:p.Gly268Ala	coding	Benign
9	133256085	A	T	A133256085T	ABO	NM_020469.3(ABO):c.646T>A:p.Phe216Ile	coding	Benign
9	133256963	T	C	T133256963C	ABO	NM_020469.3(ABO):c.373+446A>G	noncoding	Benign
9	133257246	A	G	A133257246G	ABO	NM_020469.3(ABO):c.373+163T>C	noncoding	Benign
9	133258116	G	A	G133258116A	ABO	NM_020469.3(ABO):c.220C>T:p.Pro74Ser	coding	Benign
9	133259717	G	T	G133259717T	ABO	NM_020469.3(ABO):c.203+102C>A	noncoding	Benign
9	133261367	C	A	C133261367A	ABO	NM_020469.3(ABO):c.106G>T:p.Val36Phe	coding	Benign
9	133273233	C	G	C133273233G	ABO	NM_020469.3(ABO):c.28+1929G>C	noncoding	Benign
9	133351795	A	G	A133351795G	SURF1	NM_003172.4(SURF1):c.*118T>C	noncoding	Benign
9	133351933	G	A	G133351933A	SURF1	NM_003172.4(SURF1):c.883C>T:p.Arg295Cys	coding	Benign/Likely_benign
9	133351982	C	T	C133351982T	SURF1	NM_003172.4(SURF1):c.834G>A:p.Trp278Ter	coding	Pathogenic
9	133352060	C	T	C133352060T	SURF1	NM_003172.4(SURF1):c.833+1G>A	noncoding	Pathogenic
9	133352074	A	C	A133352074C	SURF1	NM_003172.4(SURF1):c.820T>G:p.Tyr274Asp	coding	Pathogenic
9	133352122	G	A	G133352122A	SURF1	NM_003172.4(SURF1):c.772C>T:p.Pro258Ser	coding	Pathogenic
9	133352143	C	G	C133352143G	SURF1	NM_003172.4(SURF1):c.752-1G>C	coding	Pathogenic/Likely_pathogenic
9	133352440	A	G	A133352440G	SURF1	NM_003172.4(SURF1):c.751+6T>C	noncoding	Benign
9	133352446	G	A	G133352446A	SURF1	NM_003172.4(SURF1):c.751C>T:p.Gln251Ter	coding	Pathogenic
9	133352509	G	A	G133352509A	SURF1	NM_003172.4(SURF1):c.688C>T:p.Arg230Ter	coding	Pathogenic
9	133352516	C	T	C133352516T	SURF1	NM_003172.4(SURF1):c.681G>A:p.Trp227Ter	coding	Pathogenic
9	133352518	A	G	A133352518G	SURF1	NM_003172.4(SURF1):c.679T>C:p.Trp227Arg	coding	Pathogenic
9	133352609	C	A	C133352609A	SURF1	NM_003172.4(SURF1):c.589-1G>T	coding	Pathogenic
9	133352696	G	A	G133352696A	SURF1	NM_003172.4(SURF1):c.586C>T:p.Gln196Ter	coding	Pathogenic/Likely_pathogenic
9	133352708	G	A	G133352708A	SURF1	NM_003172.4(SURF1):c.574C>T:p.Arg192Trp	coding	Pathogenic
9	133352709	G	C	G133352709C	SURF1	NM_003172.4(SURF1):c.573C>G:p.Thr191=	coding	Benign/Likely_benign
9	133352739	G	A	G133352739A	SURF1	NM_003172.4(SURF1):c.543C>T:p.Phe181=	coding	Benign/Likely_benign
9	133352768	T	C	T133352768C	SURF1	NM_003172.4(SURF1):c.516-2A>G	noncoding	Pathogenic
9	133353747	A	C	A133353747C	SURF1	NM_003172.4(SURF1):c.515+2T>G	noncoding	Pathogenic
9	133353893	C	T	C133353893T	SURF1	NM_003172.4(SURF1):c.371G>A:p.Gly124Glu	coding	Pathogenic
9	133353951	A	C	A133353951C	SURF1	NM_003172.4(SURF1):c.324-11T>G	noncoding	Pathogenic
9	133354657	A	G	A133354657G	SURF1	NM_003172.4(SURF1):c.323+2T>C	noncoding	Pathogenic
9	133354663	C	A	C133354663A	SURF1	NM_003172.4(SURF1):c.319G>T:p.Ala107Ser	coding	Pathogenic
9	133354702	A	G	A133354702G	SURF1	NM_003172.4(SURF1):c.280T>C:p.Leu94=	coding	Benign/Likely_benign
9	133354815	G	A	G133354815A	SURF1	NM_003172.4(SURF1):c.240+9C>T	noncoding	Benign
9	133354818	C	T	C133354818T	SURF1	NM_003172.4(SURF1):c.240+6G>A	noncoding	Benign
9	133354823	C	A	C133354823A	SURF1	NM_003172.4(SURF1):c.240+1G>T	noncoding	Pathogenic
9	133354824	C	G	C133354824G	SURF1	NM_003172.4(SURF1):c.240G>C:p.Gln80His	coding	Pathogenic
9	133354828	C	T	C133354828T	SURF1	NM_003172.4(SURF1):c.236G>A:p.Trp79Ter	coding	Pathogenic
9	133354897	G	C	G133354897C	SURF1	NM_003172.4(SURF1):c.167C>G:p.Ala56Gly	coding	Benign
9	133354959	T	C	T133354959C	SURF1	NM_003172.4(SURF1):c.107-2A>G	noncoding	Pathogenic
9	133356391	G	C	G133356391C	SURF1	NM_003172.4(SURF1):c.54+9C>G	noncoding	Benign
9	133422462	C	T	C133422462T	ADAMTS13	NM_139025.4(ADAMTS13):c.19C>T:p.Arg7Trp	coding	Benign/Likely_benign
9	133424273	G	A	G133424273A	ADAMTS13	NM_139025.4(ADAMTS13):c.173-48G>A	noncoding	Benign
9	133424303	C	T	C133424303T	ADAMTS13	NM_139025.4(ADAMTS13):c.173-18C>T	noncoding	Benign
9	133424434	C	G	C133424434G	ADAMTS13	NM_139025.4(ADAMTS13):c.286C>G:p.His96Asp	coding	Pathogenic
9	133424452	C	T	C133424452T	ADAMTS13	NM_139025.4(ADAMTS13):c.304C>T:p.Arg102Cys	coding	Pathogenic
9	133425528	G	A	G133425528A	ADAMTS13	NM_139025.4(ADAMTS13):c.331-1G>A	noncoding	Pathogenic
9	133425552	G	A	G133425552A	ADAMTS13	NM_139025.4(ADAMTS13):c.354G>A:p.Pro118=	coding	Benign/Likely_benign
9	133425555	C	T	C133425555T	ADAMTS13	NM_139025.4(ADAMTS13):c.357C>T:p.Ser119=	coding	Benign
9	133425613	G	A	G133425613A	ADAMTS13	NM_139025.4(ADAMTS13):c.414+1G>A	coding	Pathogenic
9	133425943	T	C	T133425943C	ADAMTS13	NM_139025.4(ADAMTS13):c.420T>C:p.Ala140=	coding	Benign
9	133426023	C	T	C133426023T	ADAMTS13	NM_139025.4(ADAMTS13):c.500C>T:p.Thr167Met	coding	Benign
9	133426166	G	A	G133426166A	ADAMTS13	NM_139025.4(ADAMTS13):c.540-33G>A	noncoding	Benign
9	133426205	C	T	C133426205T	ADAMTS13	NM_139025.5(ADAMTS13):c.546C>T:p.Asp182=	coding	Benign
9	133426240	G	T	G133426240T	ADAMTS13	NM_139025.4(ADAMTS13):c.581G>T:p.Gly194Val	coding	Pathogenic
9	133426241	C	T	C133426241T	ADAMTS13	NM_139025.4(ADAMTS13):c.582C>T:p.Gly194=	coding	Benign/Likely_benign
9	133426246	C	T	C133426246T	ADAMTS13	NM_139025.4(ADAMTS13):c.587C>T:p.Thr196Ile	coding	Pathogenic
9	133426349	T	G	T133426349G	ADAMTS13	NM_139025.4(ADAMTS13):c.686+4T>G	noncoding	Benign/Likely_benign
9	133428696	C	T	C133428696T	ADAMTS13	NM_139025.4(ADAMTS13):c.749C>T:p.Ala250Val	coding	Pathogenic
9	133428750	G	C	G133428750C	ADAMTS13	NM_139025.4(ADAMTS13):c.803G>C:p.Arg268Pro	coding	Pathogenic
9	133430050	C	T	C133430050T	ADAMTS13	NM_139025.4(ADAMTS13):c.936C>T:p.Arg312=	coding	Benign/Likely_benign
9	133430112	C	T	C133430112T	ADAMTS13	NM_139025.4(ADAMTS13):c.987+11C>T	noncoding	Benign/Likely_benign
9	133432616	C	G	C133432616G	ADAMTS13	NM_139025.4(ADAMTS13):c.1016C>G:p.Thr339Arg	coding	Benign
9	133432622	C	T	C133432622T	ADAMTS13	NM_139025.4(ADAMTS13):c.1022C>T:p.Pro341Leu	coding	Benign
9	133433478	G	A	G133433478A	ADAMTS13	NM_139025.5(ADAMTS13):c.1193G>A:p.Arg398His	coding	Pathogenic
9	133436862	C	G	C133436862G	ADAMTS13	NM_139025.4(ADAMTS13):c.1342C>G:p.Gln448Glu	coding	Benign
9	133436865	C	T	C133436865T	ADAMTS13	NM_139025.4(ADAMTS13):c.1345C>T:p.Gln449Ter	coding	Pathogenic
9	133436888	G	T	G133436888T	ADAMTS13	NM_139025.4(ADAMTS13):c.1368G>T:p.Gln456His	coding	Benign/Likely_benign
9	133437563	T	C	T133437563C	ADAMTS13	NM_139025.4(ADAMTS13):c.1436-186T>C	noncoding	Benign
9	133437895	A	G	A133437895G	ADAMTS13	NM_139025.4(ADAMTS13):c.1582A>G:p.Arg528Gly	coding	Pathogenic
9	133437902	G	A	G133437902A	ADAMTS13	NM_139025.4(ADAMTS13):c.1584+5G>A	noncoding	Pathogenic
9	133438373	G	A	G133438373A	ADAMTS13	NM_139025.4(ADAMTS13):c.1705+7G>A	noncoding	Benign
9	133439376	G	A	G133439376A	ADAMTS13	NM_139025.4(ADAMTS13):c.1716G>A:p.Thr572=	coding	Benign
9	133440337	C	T	C133440337T	ADAMTS13	NM_139025.4(ADAMTS13):c.1787-7C>T	noncoding	Benign
9	133440344	C	T	C133440344T	ADAMTS13	NM_139025.4(ADAMTS13):c.1787C>T:p.Ala596Val	coding	Pathogenic
9	133440354	C	T	C133440354T	ADAMTS13	NM_139025.4(ADAMTS13):c.1797C>T:p.Ile599=	coding	Benign/Likely_benign
9	133440387	C	T	C133440387T	ADAMTS13	NM_139025.4(ADAMTS13):c.1830C>T:p.Ser610=	coding	Benign
9	133440409	C	G	C133440409G	ADAMTS13	NM_139025.4(ADAMTS13):c.1852C>G:p.Pro618Ala	coding	Benign/Likely_benign
9	133440431	G	A	G133440431A	ADAMTS13	NM_139025.4(ADAMTS13):c.1874G>A:p.Arg625His	coding	Benign/Likely_benign
9	133442504	C	T	C133442504T	ADAMTS13	NM_139025.4(ADAMTS13):c.2074C>T:p.Arg692Cys	coding	Pathogenic
9	133442718	T	C	T133442718C	ADAMTS13	NM_139025.4(ADAMTS13):c.2209T>C:p.Cys737Arg	coding	Pathogenic
9	133442727	G	A	G133442727A	ADAMTS13	NM_139025.4(ADAMTS13):c.2218G>A:p.Glu740Lys	coding	Benign/Likely_benign
9	133443421	T	C	T133443421C	ADAMTS13	NM_139025.4(ADAMTS13):c.2280T>C:p.Gly760=	coding	Benign
9	133444936	G	A	G133444936A	ADAMTS13	NM_139025.4(ADAMTS13):c.2494G>A:p.Val832Met	coding	Benign
9	133444950	T	C	T133444950C	ADAMTS13	NM_139025.4(ADAMTS13):c.2508T>C:p.Asp836=	coding	Benign/Likely_benign
9	133445787	C	T	C133445787T	ADAMTS13	NM_139025.4(ADAMTS13):c.2699C>T:p.Ala900Val	coding	Benign/Likely_benign
9	133445796	C	T	C133445796T	ADAMTS13	NM_139025.4(ADAMTS13):c.2708C>T:p.Ser903Leu	coding	Benign/Likely_benign
9	133445896	G	A	G133445896A	ADAMTS13	NM_139025.4(ADAMTS13):c.2731+77G>A	noncoding	Benign
9	133446558	G	T	G133446558T	ADAMTS13	NM_139025.4(ADAMTS13):c.2731+739G>T	noncoding	Benign
9	133448718	T	G	T133448718G	ADAMTS13	NM_139025.4(ADAMTS13):c.2851T>G:p.Cys951Gly	coding	Pathogenic
9	133449831	C	T	C133449831T	ADAMTS13	NM_139025.4(ADAMTS13):c.2910C>T:p.Val970=	coding	Benign/Likely_benign
9	133449966	G	A	G133449966A	ADAMTS13	NM_139025.4(ADAMTS13):c.3044+1G>A	coding	Pathogenic
9	133454367	T	C	T133454367C	ADAMTS13	NM_139025.4(ADAMTS13):c.3045-48T>C	noncoding	Benign
9	133454374	G	A	G133454374A	ADAMTS13	NM_139025.4(ADAMTS13):c.3045-41G>A	noncoding	Benign
9	133454440	T	G	T133454440G	ADAMTS13	NM_139025.4(ADAMTS13):c.3070T>G:p.Cys1024Gly	coding	Pathogenic
9	133454467	G	A	G133454467A	ADAMTS13	NM_139025.4(ADAMTS13):c.3097G>A:p.Ala1033Thr	coding	Benign/Likely_benign
9	133454478	G	A	G133454478A	ADAMTS13	NM_139025.4(ADAMTS13):c.3108G>A:p.Ser1036=	coding	Benign/Likely_benign
9	133454520	G	A	G133454520A	ADAMTS13	NM_139025.4(ADAMTS13):c.3150G>A:p.Val1050=	coding	Benign
9	133454529	G	A	G133454529A	ADAMTS13	NM_139025.4(ADAMTS13):c.3159G>A:p.Ala1053=	coding	Benign
9	133454541	G	A	G133454541A	ADAMTS13	NM_139025.4(ADAMTS13):c.3171G>A:p.Ala1057=	coding	Benign
9	133454548	C	T	C133454548T	ADAMTS13	NM_139025.4(ADAMTS13):c.3178C>T:p.Arg1060Trp	coding	Pathogenic
9	133455266	T	C	T133455266C	ADAMTS13	NM_139025.4(ADAMTS13):c.3250-19T>C	noncoding	Benign
9	133455322	G	A	G133455322A	ADAMTS13	NM_139025.4(ADAMTS13):c.3287G>A:p.Arg1096His	coding	Benign/Likely_benign
9	133455576	G	A	G133455576A	ADAMTS13	NM_139025.4(ADAMTS13):c.3541G>A:p.Gly1181Arg	coding	Benign
9	133456138	G	A	G133456138A	ADAMTS13	NM_139025.4(ADAMTS13):c.3638G>A:p.Cys1213Tyr	coding	Pathogenic
9	133456177	C	T	C133456177T	ADAMTS13	NM_139025.4(ADAMTS13):c.3677C>T:p.Thr1226Ile	coding	Benign
9	133456673	G	A	G133456673A	ADAMTS13	NM_139025.4(ADAMTS13):c.3846G>A:p.Val1282=	coding	Benign/Likely_benign
9	133458632	A	G	A133458632G	ADAMTS13	NM_139025.4(ADAMTS13):c.4078-342A>G	noncoding	Benign
9	133459117	C	A	C133459117A	ADAMTS13	NM_139025.4(ADAMTS13):c.4221C>A:p.Thr1407=	coding	Benign
9	133459348	C	T	C133459348T	ADAMTS13	NM_139025.5(ADAMTS13):c.*168C>T	noncoding	Benign
9	133475412	G	A	G133475412A	SLC2A6	NM_017585.4(SLC2A6):c.762C>T:p.Asn254=	coding	Benign
9	133478286	G	A	G133478286A	SLC2A6	NM_017585.4(SLC2A6):c.223C>T:p.His75Tyr	coding	Benign
9	133478402	T	C	T133478402C	SLC2A6	NM_017585.4(SLC2A6):c.107A>G:p.Lys36Arg	coding	Benign
9	133514687	C	T	C133514687T	MYMK	NM_001080483.3(MYMK):c.615G>A:p.Pro205=	coding	Benign
9	133514749	A	G	A133514749G	MYMK	NM_001080483.3(MYMK):c.553T>C:p.Cys185Arg	coding	Pathogenic
9	133515546	A	G	A133515546G	MYMK	NM_001080483.3(MYMK):c.461T>C:p.Ile154Thr	coding	Pathogenic
9	133518975	C	T	C133518975T	MYMK	NM_001080483.3(MYMK):c.298G>A:p.Gly100Ser	coding	Pathogenic
9	133519002	G	T	G133519002T	MYMK	NM_001080483.3(MYMK):c.271C>A:p.Pro91Thr	coding	Pathogenic/Likely_pathogenic
9	133519006	G	A	G133519006A	MYMK	NM_001080483.3(MYMK):c.267C>T:p.Asp89=	coding	Benign
9	133519020	G	A	G133519020A	MYMK	NM_001080483.3(MYMK):c.253C>T:p.Leu85=	coding	Benign
9	133520205	C	T	C133520205T	MYMK	NM_001080483.3(MYMK):c.219G>A:p.Gly73=	coding	Benign
9	133524843	A	T	A133524843T	MYMK	NM_001080483.3(MYMK):c.2T>A:p.Met1Lys	coding	Pathogenic
9	133536303	G	A	G133536303A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.-150-260G>A	noncoding	Benign
9	133536484	A	C	A133536484C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.-150-79A>C	noncoding	Benign
9	133537223	T	A	T133537223A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.91-182T>A	noncoding	Benign
9	133537529	G	A	G133537529A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.215G>A:p.Arg72Gln	coding	Pathogenic
9	133538347	A	G	A133538347G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.234-2A>G	noncoding	Pathogenic
9	133538632	T	C	T133538632C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.309+208T>C	noncoding	Benign
9	133539572	T	C	T133539572C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.310-199T>C	noncoding	Benign
9	133539602	A	G	A133539602G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.310-169A>G	noncoding	Benign
9	133539762	G	A	G133539762A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.310-9G>A	noncoding	Benign
9	133539799	G	A	G133539799A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.338G>A:p.Arg113His	coding	Pathogenic
9	133540625	C	T	C133540625T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.440C>T:p.Pro147Leu	coding	Pathogenic
9	133540684	G	A	G133540684A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.499G>A:p.Asp167Asn	coding	Pathogenic
9	133540714	C	T	C133540714T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.529C>T:p.Arg177Ter	coding	Pathogenic
9	133540980	C	T	C133540980T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.661C>T:p.Arg221Cys	coding	Pathogenic
9	133544245	T	C	T133544245C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-225T>C	noncoding	Benign
9	133544282	G	C	G133544282C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-188G>C	noncoding	Benign
9	133544298	A	G	A133544298G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-172A>G	noncoding	Benign
9	133544335	A	G	A133544335G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-135A>G	noncoding	Benign
9	133544407	C	T	C133544407T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-63C>T	noncoding	Benign
9	133544458	T	G	T133544458G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.683-12T>G	noncoding	Benign
9	133544732	C	T	C133544732T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.763+182C>T	noncoding	Benign
9	133546891	G	C	G133546891C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.764-147G>C	noncoding	Benign
9	133546919	C	T	C133546919T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.764-119C>T	noncoding	Benign
9	133547048	C	T	C133547048T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.774C>T:p.Asp258=	coding	Benign
9	133547114	A	T	A133547114T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.840A>T:p.Ala280=	coding	Benign
9	133547133	A	C	A133547133C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.859A>C:p.Arg287=	coding	Benign
9	133547174	C	T	C133547174T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.900C>T:p.Ile300=	coding	Benign
9	133547224	C	T	C133547224T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+11C>T	noncoding	Benign
9	133547260	T	C	T133547260C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+47T>C	noncoding	Benign
9	133547332	C	T	C133547332T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+119C>T	noncoding	Benign
9	133554507	G	A	G133554507A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.1090G>A:p.Val364Ile	coding	Benign
9	133554647	C	T	C133554647T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.1230C>T:p.Ala410=	coding	Benign
9	133566801	G	C	G133566801C	ADAMTSL2	NM_014694.4(ADAMTSL2):c.1748-135G>C	noncoding	Benign
9	133570346	G	A	G133570346A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2431G>A:p.Gly811Arg	coding	Pathogenic
9	133570501	G	A	G133570501A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2586G>A:p.Trp862Ter	coding	Pathogenic
9	133570574	C	T	C133570574T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2592+67C>T	noncoding	Benign
9	133573728	G	A	G133573728A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.2593-115G>A	noncoding	Benign
9	133574956	G	A	G133574956A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*92G>A	noncoding	Benign
9	133575022	G	A	G133575022A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*158G>A	noncoding	Benign
9	133575081	G	T	G133575081T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*217G>T	noncoding	Benign
9	133575116	C	T	C133575116T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*252C>T	noncoding	Benign
9	133575240	G	A	G133575240A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*376G>A	noncoding	Benign
9	133635393	T	C	T133635393C	DBH	NM_000787.3(DBH):c.-979T>C	noncoding	Benign
9	133636447	G	A	G133636447A	DBH	NM_000787.4(DBH):c.76G>A:p.Val26Met	coding	Benign
9	133636476	C	T	C133636476T	DBH	NM_000787.4(DBH):c.105C>T:p.Ala35=	coding	Benign/Likely_benign
9	133636606	C	T	C133636606T	DBH	NM_000787.4(DBH):c.235C>T:p.Arg79Trp	coding	Benign/Likely_benign
9	133636672	G	A	G133636672A	DBH	NM_000787.4(DBH):c.301G>A:p.Val101Met	coding	Pathogenic
9	133636686	C	T	C133636686T	DBH	NM_000787.4(DBH):c.315C>T:p.Thr105=	coding	Benign
9	133636712	T	C	T133636712C	DBH	NM_000787.4(DBH):c.339+2T>C	noncoding	Pathogenic
9	133639848	C	A	C133639848A	DBH	NM_000787.4(DBH):c.342C>A:p.Asp114Glu	coding	Pathogenic
9	133639992	A	G	A133639992G	DBH	NM_000787.4(DBH):c.486A>G:p.Glu162=	coding	Benign
9	133640005	C	T	C133640005T	DBH	NM_000787.4(DBH):c.486+13C>T	noncoding	Benign
9	133642253	G	A	G133642253A	DBH	NM_000787.4(DBH):c.533G>A:p.Arg178Gln	coding	Benign
9	133642272	C	T	C133642272T	DBH	NM_000787.4(DBH):c.552C>T:p.Asn184=	coding	Benign
9	133642322	A	G	A133642322G	DBH	NM_000787.4(DBH):c.602A>G:p.Asn201Ser	coding	Benign
9	133642351	G	A	G133642351A	DBH	NM_000787.4(DBH):c.631G>A:p.Ala211Thr	coding	Benign
9	133642455	C	T	C133642455T	DBH	NM_000787.4(DBH):c.735C>T:p.His245=	coding	Benign
9	133642472	C	T	C133642472T	DBH	NM_000787.4(DBH):c.744+8C>T	noncoding	Benign
9	133643415	C	T	C133643415T	DBH	NM_000787.4(DBH):c.747C>T:p.Tyr249=	coding	Benign/Likely_benign
9	133643474	G	T	G133643474T	DBH	NM_000787.4(DBH):c.806G>T:p.Cys269Phe	coding	Pathogenic
9	133643518	G	A	G133643518A	DBH	NM_000787.4(DBH):c.850G>A:p.Asp284Asn	coding	Benign/Likely_benign
9	133643536	G	A	G133643536A	DBH	NM_000787.4(DBH):c.868G>A:p.Asp290Asn	coding	Benign
9	133644229	C	T	C133644229T	DBH	NM_000787.4(DBH):c.933C>T:p.Tyr311=	coding	Benign
9	133644248	G	T	G133644248T	DBH	NM_000787.4(DBH):c.952G>T:p.Ala318Ser	coding	Benign
9	133644326	C	G	C133644326G	DBH	NM_000787.4(DBH):c.1024+6C>G	noncoding	Benign
9	133644329	C	T	C133644329T	DBH	NM_000787.4(DBH):c.1024+9C>T	noncoding	Benign
9	133647854	G	A	G133647854A	DBH	NM_000787.4(DBH):c.1033G>A:p.Asp345Asn	coding	Pathogenic
9	133647906	C	A	C133647906A	DBH	NM_000787.4(DBH):c.1085C>A:p.Ala362Glu	coding	Pathogenic
9	133651648	C	T	C133651648T	DBH	NM_000787.4(DBH):c.1206C>T:p.Ser402=	coding	Benign
9	133651663	C	T	C133651663T	DBH	NM_000787.4(DBH):c.1221C>T:p.Phe407=	coding	Benign/Likely_benign
9	133651790	A	G	A133651790G	DBH	NM_000787.4(DBH):c.1335+13A>G	noncoding	Benign
9	133652975	A	G	A133652975G	DBH	NM_000787.4(DBH):c.1410A>G:p.Thr470=	coding	Benign
9	133656627	G	A	G133656627A	DBH	NM_000787.4(DBH):c.1539G>A:p.Gln513=	coding	Benign
9	133657065	A	G	A133657065G	DBH	NM_000787.4(DBH):c.1563-5A>G	noncoding	Benign
9	133657079	C	T	C133657079T	DBH	NM_000787.4(DBH):c.1572C>T:p.Asn524=	coding	Benign/Likely_benign
9	133657152	C	T	C133657152T	DBH	NM_000787.4(DBH):c.1645C>T:p.Arg549Cys	coding	Benign
9	133657174	A	G	A133657174G	DBH	NM_000787.4(DBH):c.1667A>G:p.Tyr556Cys	coding	Pathogenic
9	133657233	C	T	C133657233T	DBH	NM_000787.4(DBH):c.1722+4C>T	coding	Benign
9	133658327	C	T	C133658327T	DBH	NM_000787.4(DBH):c.1734C>T:p.Asn578=	coding	Benign
9	133658328	C	T	C133658328T	DBH	NM_000787.4(DBH):c.1735C>T:p.Leu579=	coding	Benign/Likely_benign
9	133658412	C	T	C133658412T	DBH	NM_000787.4(DBH):c.1819C>T:p.Pro607Ser	coding	Benign
9	133658505	G	A	G133658505A	DBH	NM_000787.4(DBH):c.*58G>A	noncoding	Benign
9	133658547	C	T	C133658547T	DBH	NM_000787.4(DBH):c.*100C>T	noncoding	Benign
9	133658725	T	C	T133658725C	DBH	NM_000787.4(DBH):c.*278T>C	noncoding	Benign
9	133658837	G	A	G133658837A	DBH	NM_000787.4(DBH):c.*390G>A	noncoding	Benign
9	133659284	T	G	T133659284G	DBH	NM_000787.4(DBH):c.*837T>G	noncoding	Benign
9	133659287	C	T	C133659287T	DBH	NM_000787.4(DBH):c.*840C>T	noncoding	Benign
9	133670624	C	T	C133670624T	SARDH	NM_001134707.2(SARDH):c.2455G>A:p.Ala819Thr	coding	Benign
9	133670733	C	T	C133670733T	SARDH	NM_001134707.2(SARDH):c.2346G>A:p.Ala782=	coding	Benign
9	133696245	G	C	G133696245C	SARDH	NM_001134707.2(SARDH):c.1785C>G:p.Ser595=	coding	Benign
9	133696326	G	A	G133696326A	SARDH	NM_001134707.2(SARDH):c.1704C>T:p.Ala568=	coding	Benign
9	133705039	G	A	G133705039A	SARDH	NM_001134707.2(SARDH):c.1471-8C>T	noncoding	Benign
9	133708289	C	T	C133708289T	SARDH	NM_001134707.2(SARDH):c.1468G>A:p.Glu490Lys	coding	Benign
9	133708299	G	A	G133708299A	SARDH	NM_001134707.2(SARDH):c.1458C>T:p.Asp486=	coding	Benign
9	133712648	C	T	C133712648T	SARDH	NM_001134707.2(SARDH):c.1299G>A:p.Pro433=	coding	Benign
9	133718960	G	A	G133718960A	SARDH	NM_001134707.2(SARDH):c.998C>T:p.Ala333Val	coding	Benign
9	133719010	A	G	A133719010G	SARDH	NM_001134707.2(SARDH):c.948T>C:p.Ser316=	coding	Benign
9	133730131	C	T	C133730131T	SARDH	NM_001134707.2(SARDH):c.747G>A:p.Val249=	coding	Benign
9	133731452	C	A	C133731452A	SARDH	NM_001134707.2(SARDH):c.543G>T:p.Val181=	coding	Benign
9	133732460	T	C	T133732460C	SARDH	NM_001134707.2(SARDH):c.473A>G:p.Asn158Ser	coding	Benign
9	133733992	C	T	C133733992T	SARDH	NM_001134707.2(SARDH):c.182G>A:p.Arg61Gln	coding	Benign
9	133768433	G	T	G133768433T	VAV2	NM_001134398.2(VAV2):c.2589+9C>A	noncoding	Benign
9	133775000	G	A	G133775000A	VAV2	NM_001134398.2(VAV2):c.2070C>T:p.His690=	coding	Benign
9	133777468	C	G	C133777468G	VAV2	NM_001134398.2(VAV2):c.1891-5G>C	noncoding	Benign
9	133778813	C	G	C133778813G	VAV2	NM_001134398.2(VAV2):c.1839G>C:p.Thr613=	coding	Benign
9	133779937	G	A	G133779937A	VAV2	NM_001134398.2(VAV2):c.1743C>T:p.Asp581=	coding	Benign
9	133788429	G	A	G133788429A	VAV2	NM_001134398.2(VAV2):c.1332C>T:p.Tyr444=	coding	Benign
9	133807252	C	G	C133807252G	VAV2	NM_001134398.2(VAV2):c.735+6G>C	noncoding	Benign
9	133861424	G	A	G133861424A	VAV2	NM_001134398.2(VAV2):c.330C>T:p.Ser110=	coding	Benign
9	134048266	G	A	G134048266A	BRD3	NM_007371.4(BRD3):c.903C>T:p.His301=	coding	Benign
9	134053433	G	T	G134053433T	BRD3	NM_007371.4(BRD3):c.45C>A:p.Thr15=	coding	Benign
9	134641788	C	G	C134641788G	COL5A1	NC_000009.12:g.134641788C>G	noncoding	Benign
9	134641806	C	G	C134641806G	COL5A1	NM_001278074.1(COL5A1):c.-382C>G	noncoding	Benign/Likely_benign
9	134641941	T	G	T134641941G	COL5A1	NM_001278074.1(COL5A1):c.-247T>G	noncoding	Benign
9	134641989	C	T	C134641989T	COL5A1	NM_000093.5(COL5A1):c.-199C>T	noncoding	Benign
9	134642078	A	G	A134642078G	COL5A1	NM_001278074.1(COL5A1):c.-110A>G	noncoding	Benign/Likely_benign
9	134642151	G	A	G134642151A	COL5A1	NM_001278074.1(COL5A1):c.-37G>A	noncoding	Benign/Likely_benign
9	134642173	C	A	C134642173A	COL5A1	NM_001278074.1(COL5A1):c.-15C>A	noncoding	Benign
9	134642184	C	G	C134642184G	COL5A1	NM_001278074.1(COL5A1):c.-4C>G	noncoding	Benign/Likely_benign
9	134642199	T	C	T134642199C	COL5A1	NM_001278074.1(COL5A1):c.12T>C:p.His4=	coding	Benign/Likely_benign
9	134642248	C	T	C134642248T	COL5A1	NM_001278074.1(COL5A1):c.61C>T:p.Pro21Ser	coding	Benign/Likely_benign
9	134642333	G	A	G134642333A	COL5A1	NM_001278074.1(COL5A1):c.109+37G>A	noncoding	Benign
9	134690641	C	T	C134690641T	COL5A1	NM_001278074.1(COL5A1):c.110-271C>T	noncoding	Benign
9	134690734	G	A	G134690734A	COL5A1	NM_001278074.1(COL5A1):c.110-178G>A	noncoding	Benign
9	134690878	C	T	C134690878T	COL5A1	NM_001278074.1(COL5A1):c.110-34C>T	noncoding	Benign
9	134690893	T	C	T134690893C	COL5A1	NM_001278074.1(COL5A1):c.110-19T>C	noncoding	Benign/Likely_benign
9	134690995	C	T	C134690995T	COL5A1	NM_001278074.1(COL5A1):c.193C>T:p.Arg65Trp	coding	Benign/Likely_benign
9	134690996	G	A	G134690996A	COL5A1	NM_001278074.1(COL5A1):c.194G>A:p.Arg65Gln	coding	Benign/Likely_benign
9	134690998	C	T	C134690998T	COL5A1	NM_000093.5(COL5A1):c.196C>T:p.Arg66Ter	coding	Pathogenic
9	134691042	C	T	C134691042T	COL5A1	NM_001278074.1(COL5A1):c.240C>T:p.Asp80=	coding	Benign/Likely_benign
9	134691054	C	T	C134691054T	COL5A1	NM_001278074.1(COL5A1):c.252C>T:p.Ser84=	coding	Benign/Likely_benign
9	134691067	C	T	C134691067T	COL5A1	NM_000093.5(COL5A1):c.265C>T:p.Gln89Ter	coding	Pathogenic
9	134691085	T	G	T134691085G	COL5A1	NM_001278074.1(COL5A1):c.277+6T>G	noncoding	Benign
9	134699685	T	C	T134699685C	COL5A1	NM_001278074.1(COL5A1):c.278-224T>C	noncoding	Benign
9	134699909	C	T	C134699909T	COL5A1	NM_001278074.1(COL5A1):c.278C>T:p.Ala93Val	coding	Benign/Likely_benign
9	134699910	G	A	G134699910A	COL5A1	NM_001278074.1(COL5A1):c.279G>A:p.Ala93=	coding	Benign/Likely_benign
9	134699923	G	T	G134699923T	COL5A1	NM_001278074.1(COL5A1):c.292G>T:p.Glu98Ter	coding	Pathogenic
9	134700009	G	T	G134700009T	COL5A1	NM_001278074.1(COL5A1):c.378G>T:p.Gln126His	coding	Benign/Likely_benign
9	134700393	C	T	C134700393T	COL5A1	NM_001278074.1(COL5A1):c.491+271C>T	noncoding	Benign
9	134700891	C	T	C134700891T	COL5A1	NM_001278074.1(COL5A1):c.492-280C>T	noncoding	Benign
9	134701115	T	C	T134701115C	COL5A1	NM_001278074.1(COL5A1):c.492-56T>C	noncoding	Benign
9	134701173	G	A	G134701173A	COL5A1	NM_001278074.1(COL5A1):c.494G>A:p.Trp165Ter	coding	Pathogenic
9	134701252	C	T	C134701252T	COL5A1	NM_001278074.1(COL5A1):c.573C>T:p.Leu191=	coding	Benign/Likely_benign
9	134701253	G	A	G134701253A	COL5A1	NM_001278074.1(COL5A1):c.574G>A:p.Asp192Asn	coding	Benign/Likely_benign
9	134701406	G	A	G134701406A	COL5A1	NM_001278074.1(COL5A1):c.654+73G>A	noncoding	Benign
9	134701546	C	T	C134701546T	COL5A1	NM_001278074.1(COL5A1):c.654+213C>T	noncoding	Benign
9	134726946	G	A	G134726946A	COL5A1	NM_001278074.1(COL5A1):c.655-320G>A	noncoding	Benign
9	134727124	G	A	G134727124A	COL5A1	NM_001278074.1(COL5A1):c.655-142G>A	noncoding	Benign
9	134727264	A	G	A134727264G	COL5A1	NM_001278074.1(COL5A1):c.655-2A>G	noncoding	Pathogenic
9	134727349	C	T	C134727349T	COL5A1	NM_001278074.1(COL5A1):c.738C>T:p.Thr246=	coding	Benign
9	134727372	C	A	C134727372A	COL5A1	NM_000093.5(COL5A1):c.761C>A:p.Ser254Ter	coding	Pathogenic
9	134727372	C	T	C134727372T	COL5A1	NM_001278074.1(COL5A1):c.761C>T:p.Ser254Leu	coding	Benign/Likely_benign
9	134727579	T	G	T134727579G	COL5A1	NM_001278074.1(COL5A1):c.786+182T>G	noncoding	Benign
9	134727668	G	C	G134727668C	COL5A1	NM_001278074.1(COL5A1):c.786+271G>C	noncoding	Benign
9	134728490	G	A	G134728490A	COL5A1	NM_001278074.1(COL5A1):c.787-180G>A	noncoding	Benign
9	134728628	C	T	C134728628T	COL5A1	NM_001278074.1(COL5A1):c.787-42C>T	noncoding	Benign
9	134728787	G	T	G134728787T	COL5A1	NM_001278074.1(COL5A1):c.904G>T:p.Glu302Ter	coding	Pathogenic
9	134729001	A	C	A134729001C	COL5A1	NM_001278074.1(COL5A1):c.924+194A>C	noncoding	Benign
9	134730187	A	G	A134730187G	COL5A1	NM_001278074.1(COL5A1):c.925-49A>G	noncoding	Benign
9	134730192	C	T	C134730192T	COL5A1	NM_001278074.1(COL5A1):c.925-44C>T	noncoding	Benign
9	134730193	G	A	G134730193A	COL5A1	NM_001278074.1(COL5A1):c.925-43G>A	noncoding	Benign
9	134730307	C	T	C134730307T	COL5A1	NM_001278074.1(COL5A1):c.996C>T:p.Asp332=	coding	Benign/Likely_benign
9	134730373	C	T	C134730373T	COL5A1	NM_001278074.1(COL5A1):c.1062C>T:p.Asp354=	coding	Benign/Likely_benign
9	134730386	G	T	G134730386T	COL5A1	NM_001278074.1(COL5A1):c.1075G>T:p.Glu359Ter	coding	Pathogenic
9	134730388	G	A	G134730388A	COL5A1	NM_001278074.1(COL5A1):c.1077G>A:p.Glu359=	coding	Benign/Likely_benign
9	134730403	C	T	C134730403T	COL5A1	NM_001278074.1(COL5A1):c.1092C>T:p.Pro364=	coding	Benign
9	134730454	C	T	C134730454T	COL5A1	NM_001278074.1(COL5A1):c.1143C>T:p.Ala381=	coding	Benign/Likely_benign
9	134730469	C	T	C134730469T	COL5A1	NM_001278074.1(COL5A1):c.1158C>T:p.Ser386=	coding	Benign/Likely_benign
9	134730562	T	A	T134730562A	COL5A1	NM_001278074.1(COL5A1):c.1164+87T>A	noncoding	Benign
9	134730609	A	C	A134730609C	COL5A1	NM_001278074.1(COL5A1):c.1164+134A>C	noncoding	Benign
9	134731347	C	T	C134731347T	COL5A1	NM_001278074.1(COL5A1):c.1165-149C>T	noncoding	Benign
9	134731457	G	A	G134731457A	COL5A1	NM_001278074.1(COL5A1):c.1165-39G>A	noncoding	Benign
9	134731514	G	T	G134731514T	COL5A1	NM_001278074.1(COL5A1):c.1183G>T:p.Glu395Ter	coding	Pathogenic
9	134731522	G	T	G134731522T	COL5A1	NM_001278074.1(COL5A1):c.1191G>T:p.Ala397=	coding	Benign/Likely_benign
9	134731538	G	T	G134731538T	COL5A1	NM_001278074.1(COL5A1):c.1207G>T:p.Glu403Ter	coding	Pathogenic
9	134731612	G	A	G134731612A	COL5A1	NM_001278074.1(COL5A1):c.1281G>A:p.Pro427=	coding	Benign/Likely_benign
9	134731624	G	T	G134731624T	COL5A1	NM_001278074.1(COL5A1):c.1293G>T:p.Gly431=	coding	Benign
9	134731664	G	T	G134731664T	COL5A1	NM_001278074.1(COL5A1):c.1332+1G>T	coding	Pathogenic
9	134731688	C	T	C134731688T	COL5A1	NM_001278074.1(COL5A1):c.1332+25C>T	noncoding	Benign
9	134731709	T	C	T134731709C	COL5A1	NM_001278074.1(COL5A1):c.1332+46T>C	noncoding	Benign
9	134731755	C	G	C134731755G	COL5A1	NM_001278074.1(COL5A1):c.1332+92C>G	noncoding	Benign
9	134732063	A	G	A134732063G	COL5A1	NM_001278074.1(COL5A1):c.1333-8A>G	noncoding	Benign/Likely_benign
9	134738169	C	T	C134738169T	COL5A1	NM_001278074.1(COL5A1):c.1390-305C>T	noncoding	Benign
9	134738215	G	A	G134738215A	COL5A1	NM_001278074.1(COL5A1):c.1390-259G>A	noncoding	Benign
9	134738515	G	A	G134738515A	COL5A1	NM_001278074.1(COL5A1):c.1431G>A:p.Ala477=	coding	Benign
9	134738722	C	T	C134738722T	COL5A1	NM_001278074.1(COL5A1):c.1432-24C>T	noncoding	Benign
9	134738741	T	C	T134738741C	COL5A1	NM_001278074.1(COL5A1):c.1432-5T>C	noncoding	Benign
9	134738754	C	T	C134738754T	COL5A1	NM_001278074.1(COL5A1):c.1440C>T:p.Pro480=	coding	Benign/Likely_benign
9	134750586	C	T	C134750586T	COL5A1	NM_001278074.1(COL5A1):c.1539C>T:p.Pro513=	coding	Benign/Likely_benign
9	134750613	G	A	G134750613A	COL5A1	NM_001278074.1(COL5A1):c.1566G>A:p.Leu522=	coding	Benign/Likely_benign
9	134750631	C	T	C134750631T	COL5A1	NM_001278074.1(COL5A1):c.1569+15C>T	noncoding	Benign/Likely_benign
9	134750632	A	G	A134750632G	COL5A1	NM_001278074.1(COL5A1):c.1569+16A>G	noncoding	Benign
9	134750731	T	C	T134750731C	COL5A1	NM_001278074.1(COL5A1):c.1570-59T>C	noncoding	Benign
9	134750808	G	A	G134750808A	COL5A1	NM_000093.5(COL5A1):c.1588G>A:p.Gly530Ser	coding	Benign/Likely_benign
9	134750810	C	T	C134750810T	COL5A1	NM_001278074.1(COL5A1):c.1590C>T:p.Gly530=	coding	Benign/Likely_benign
9	134750859	C	T	C134750859T	COL5A1	NM_000093.5(COL5A1):c.1639C>T:p.Gln547Ter	coding	Pathogenic
9	134751134	G	A	G134751134A	COL5A1	NM_001278074.1(COL5A1):c.1662+252G>A	noncoding	Benign
9	134752588	G	C	G134752588C	COL5A1	NM_001278074.1(COL5A1):c.1663-1G>C	noncoding	Pathogenic
9	134753692	C	G	C134753692G	COL5A1	NM_001278074.1(COL5A1):c.1720-158C>G	noncoding	Benign
9	134753693	C	T	C134753693T	COL5A1	NM_001278074.1(COL5A1):c.1720-157C>T	noncoding	Benign
9	134753739	G	A	G134753739A	COL5A1	NM_001278074.1(COL5A1):c.1720-111G>A	noncoding	Benign
9	134753802	T	C	T134753802C	COL5A1	NM_001278074.1(COL5A1):c.1720-48T>C	noncoding	Benign
9	134753803	C	T	C134753803T	COL5A1	NM_001278074.1(COL5A1):c.1720-47C>T	noncoding	Benign
9	134753816	C	T	C134753816T	COL5A1	NM_001278074.1(COL5A1):c.1720-34C>T	noncoding	Benign
9	134754200	A	G	A134754200G	COL5A1	NM_001278074.1(COL5A1):c.1774-73A>G	noncoding	Benign
9	134754266	C	A	C134754266A	COL5A1	NM_001278074.1(COL5A1):c.1774-7C>A	noncoding	Benign/Likely_benign
9	134754279	C	T	C134754279T	COL5A1	NM_001278074.1(COL5A1):c.1780C>T:p.Arg594Ter	coding	Pathogenic
9	134754371	G	A	G134754371A	COL5A1	NM_001278074.1(COL5A1):c.1827+45G>A	noncoding	Benign
9	134754621	A	G	A134754621G	COL5A1	NM_001278074.1(COL5A1):c.1827+295A>G	noncoding	Benign
9	134756468	T	C	T134756468C	COL5A1	NM_001278074.1(COL5A1):c.1828-297T>C	noncoding	Benign
9	134756595	C	T	C134756595T	COL5A1	NM_001278074.1(COL5A1):c.1828-170C>T	noncoding	Benign
9	134757110	G	A	G134757110A	COL5A1	NM_001278074.1(COL5A1):c.1881+292G>A	noncoding	Benign
9	134757987	C	T	C134757987T	COL5A1	NM_001278074.1(COL5A1):c.1882-256C>T	noncoding	Benign
9	134758110	A	G	A134758110G	COL5A1	NM_001278074.1(COL5A1):c.1882-133A>G	noncoding	Benign
9	134758304	T	G	T134758304G	COL5A1	NM_001278074.1(COL5A1):c.1935+8T>G	noncoding	Benign/Likely_benign
9	134758308	C	T	C134758308T	COL5A1	NM_001278074.1(COL5A1):c.1935+12C>T	noncoding	Benign
9	134758423	G	C	G134758423C	COL5A1	NM_001278074.1(COL5A1):c.1935+127G>C	noncoding	Benign
9	134758429	A	T	A134758429T	COL5A1	NM_001278074.1(COL5A1):c.1935+133A>T	noncoding	Benign
9	134761626	C	T	C134761626T	COL5A1	NM_001278074.1(COL5A1):c.1936-299C>T	noncoding	Benign
9	134761890	C	A	C134761890A	COL5A1	NM_001278074.1(COL5A1):c.1936-35C>A	noncoding	Benign
9	134761904	G	A	G134761904A	COL5A1	NM_001278074.1(COL5A1):c.1936-21G>A	noncoding	Benign
9	134761942	C	T	C134761942T	COL5A1	NM_001278074.1(COL5A1):c.1953C>T:p.Ser651=	coding	Benign/Likely_benign
9	134761956	C	T	C134761956T	COL5A1	NM_000093.5(COL5A1):c.1967C>T:p.Pro656Leu	coding	Benign/Likely_benign
9	134761966	C	T	C134761966T	COL5A1	NM_001278074.1(COL5A1):c.1977C>T:p.Asp659=	coding	Benign
9	134761979	G	A	G134761979A	COL5A1	NM_000093.5(COL5A1):c.1989+1G>A	coding	Pathogenic
9	134761979	G	C	G134761979C	COL5A1	NM_000093.5(COL5A1):c.1989+1G>C	coding	Pathogenic
9	134762257	T	C	T134762257C	COL5A1	NM_001278074.1(COL5A1):c.1989+279T>C	noncoding	Benign
9	134763474	G	A	G134763474A	COL5A1	NM_001278074.1(COL5A1):c.1990-219G>A	noncoding	Benign
9	134763701	C	T	C134763701T	COL5A1	NM_001278074.1(COL5A1):c.1998C>T:p.Asp666=	coding	Benign
9	134763734	G	A	G134763734A	COL5A1	NM_001278074.1(COL5A1):c.2031G>A:p.Glu677=	coding	Benign/Likely_benign
9	134763738	G	A	G134763738A	COL5A1	NM_001278074.1(COL5A1):c.2034+1G>A	coding	Pathogenic
9	134763761	C	T	C134763761T	COL5A1	NM_001278074.1(COL5A1):c.2034+24C>T	noncoding	Benign/Likely_benign
9	134763993	C	T	C134763993T	COL5A1	NM_001278074.1(COL5A1):c.2034+256C>T	noncoding	Benign
9	134765704	G	A	G134765704A	COL5A1	NM_001278074.1(COL5A1):c.2058G>A:p.Pro686=	coding	Benign/Likely_benign
9	134765961	G	A	G134765961A	COL5A1	NM_001278074.1(COL5A1):c.2088+227G>A	noncoding	Benign
9	134766166	C	T	C134766166T	COL5A1	NM_001278074.1(COL5A1):c.2089-288C>T	noncoding	Benign
9	134766445	C	T	C134766445T	COL5A1	NM_001278074.1(COL5A1):c.2089-9C>T	noncoding	Benign
9	134766762	A	G	A134766762G	COL5A1	NM_001278074.1(COL5A1):c.2134-238A>G	noncoding	Benign
9	134766884	T	C	T134766884C	COL5A1	NM_001278074.1(COL5A1):c.2134-116T>C	noncoding	Benign
9	134766989	G	C	G134766989C	COL5A1	NM_001278074.1(COL5A1):c.2134-11G>C	noncoding	Benign/Likely_benign
9	134767006	C	T	C134767006T	COL5A1	NM_001278074.1(COL5A1):c.2140C>T:p.Gln714Ter	coding	Pathogenic/Likely_pathogenic
9	134767009	G	T	G134767009T	COL5A1	NM_001278074.1(COL5A1):c.2143G>T:p.Gly715Ter	coding	Pathogenic
9	134767030	C	T	C134767030T	COL5A1	NM_001278074.1(COL5A1):c.2164C>T:p.Gln722Ter	coding	Pathogenic
9	134767390	C	T	C134767390T	COL5A1	NM_001278074.1(COL5A1):c.2232+36C>T	noncoding	Benign
9	134768348	G	T	G134768348T	COL5A1	NM_001278074.1(COL5A1):c.2233-62G>T	noncoding	Benign
9	134768445	C	T	C134768445T	COL5A1	NM_001278074.1(COL5A1):c.2268C>T:p.Pro756=	coding	Benign/Likely_benign
9	134768529	A	G	A134768529G	COL5A1	NM_001278074.1(COL5A1):c.2286+66A>G	noncoding	Benign
9	134768609	T	C	T134768609C	COL5A1	NM_001278074.1(COL5A1):c.2286+146T>C	noncoding	Benign
9	134772530	T	G	T134772530G	COL5A1	NM_001278074.1(COL5A1):c.2287-260T>G	noncoding	Benign
9	134772813	T	A	T134772813A	COL5A1	NM_001278074.1(COL5A1):c.2310T>A:p.Pro770=	coding	Benign/Likely_benign
9	134773025	G	C	G134773025C	COL5A1	NM_001278074.1(COL5A1):c.2331+191G>C	noncoding	Benign
9	134774568	G	A	G134774568A	COL5A1	NM_001278074.1(COL5A1):c.2332-291G>A	noncoding	Benign
9	134774901	C	T	C134774901T	COL5A1	NM_001278074.1(COL5A1):c.2374C>T:p.Arg792Ter	coding	Pathogenic
9	134775162	G	T	G134775162T	COL5A1	NM_001278074.1(COL5A1):c.2385+250G>T	noncoding	Benign
9	134780095	C	T	C134780095T	COL5A1	NM_001278074.1(COL5A1):c.2386-7C>T	noncoding	Benign
9	134780141	G	T	G134780141T	COL5A1	NM_001278074.1(COL5A1):c.2425G>T:p.Glu809Ter	coding	Pathogenic
9	134780147	G	A	G134780147A	COL5A1	NM_001278074.1(COL5A1):c.2430+1G>A	coding	Pathogenic
9	134780166	C	T	C134780166T	COL5A1	NM_001278074.1(COL5A1):c.2430+20C>T	noncoding	Benign
9	134780342	C	T	C134780342T	COL5A1	NM_001278074.1(COL5A1):c.2430+196C>T	noncoding	Benign
9	134780436	A	G	A134780436G	COL5A1	NM_001278074.1(COL5A1):c.2430+290A>G	noncoding	Benign
9	134782642	G	A	G134782642A	COL5A1	NM_001278074.1(COL5A1):c.2431-25G>A	noncoding	Benign
9	134782675	C	T	C134782675T	COL5A1	NM_001278074.1(COL5A1):c.2439C>T:p.Asp813=	coding	Benign
9	134782838	G	A	G134782838A	COL5A1	NM_001278074.1(COL5A1):c.2484+118G>A	noncoding	Benign
9	134784798	C	A	C134784798A	COL5A1	NM_001278074.1(COL5A1):c.2485-191C>A	noncoding	Benign
9	134784806	T	A	T134784806A	COL5A1	NM_001278074.1(COL5A1):c.2485-183T>A	noncoding	Benign
9	134784829	C	T	C134784829T	COL5A1	NM_001278074.1(COL5A1):c.2485-160C>T	noncoding	Benign
9	134784842	G	C	G134784842C	COL5A1	NM_001278074.1(COL5A1):c.2485-147G>C	noncoding	Benign
9	134784843	T	C	T134784843C	COL5A1	NM_001278074.1(COL5A1):c.2485-146T>C	noncoding	Benign
9	134784978	C	T	C134784978T	COL5A1	NM_001278074.1(COL5A1):c.2485-11C>T	noncoding	Benign
9	134785112	C	G	C134785112G	COL5A1	NM_001278074.1(COL5A1):c.2592+16C>G	noncoding	Benign
9	134785305	T	C	T134785305C	COL5A1	NM_001278074.1(COL5A1):c.2592+209T>C	noncoding	Benign
9	134785384	C	T	C134785384T	COL5A1	NM_001278074.1(COL5A1):c.2592+288C>T	noncoding	Benign
9	134785389	A	G	A134785389G	COL5A1	NM_001278074.1(COL5A1):c.2592+293A>G	noncoding	Benign
9	134785394	G	A	G134785394A	COL5A1	NM_001278074.1(COL5A1):c.2592+298G>A	noncoding	Benign
9	134785742	A	C	A134785742C	COL5A1	NM_001278074.1(COL5A1):c.2593-253A>C	noncoding	Benign
9	134785950	G	A	G134785950A	COL5A1	NM_001278074.1(COL5A1):c.2593-45G>A	noncoding	Benign
9	134785980	T	C	T134785980C	COL5A1	NM_001278074.1(COL5A1):c.2593-15T>C	noncoding	Benign/Likely_benign
9	134786075	C	T	C134786075T	COL5A1	NM_001278074.1(COL5A1):c.2646+27C>T	noncoding	Benign
9	134786192	T	C	T134786192C	COL5A1	NM_001278074.1(COL5A1):c.2646+144T>C	noncoding	Benign
9	134786335	G	A	G134786335A	COL5A1	NM_001278074.1(COL5A1):c.2646+287G>A	noncoding	Benign
9	134789203	G	A	G134789203A	COL5A1	NM_001278074.1(COL5A1):c.2695G>A:p.Gly899Ser	coding	Benign/Likely_benign
9	134789246	G	A	G134789246A	COL5A1	NM_001278074.1(COL5A1):c.2700+38G>A	noncoding	Benign
9	134789254	C	T	C134789254T	COL5A1	NM_001278074.1(COL5A1):c.2700+46C>T	noncoding	Benign
9	134794781	G	A	G134794781A	COL5A1	NM_001278074.1(COL5A1):c.2701-301G>A	noncoding	Benign
9	134794896	T	C	T134794896C	COL5A1	NM_001278074.1(COL5A1):c.2701-186T>C	noncoding	Benign
9	134794979	C	A	C134794979A	COL5A1	NM_001278074.1(COL5A1):c.2701-103C>A	noncoding	Benign
9	134795057	T	G	T134795057G	COL5A1	NM_001278074.1(COL5A1):c.2701-25T>G	noncoding	Pathogenic
9	134795060	C	T	C134795060T	COL5A1	NM_001278074.1(COL5A1):c.2701-22C>T	noncoding	Benign
9	134795105	G	A	G134795105A	COL5A1	NM_001278074.1(COL5A1):c.2724G>A:p.Pro908=	coding	Benign/Likely_benign
9	134795112	C	T	C134795112T	COL5A1	NM_000093.5(COL5A1):c.2731C>T:p.Gln911Ter	coding	Pathogenic
9	134795115	C	T	C134795115T	COL5A1	NM_001278074.1(COL5A1):c.2734C>T:p.Arg912Ter	coding	Pathogenic
9	134795141	A	T	A134795141T	COL5A1	NM_001278074.1(COL5A1):c.2745+15A>T	noncoding	Benign/Likely_benign
9	134795192	A	G	A134795192G	COL5A1	NM_001278074.1(COL5A1):c.2745+66A>G	noncoding	Benign
9	134795267	G	A	G134795267A	COL5A1	NM_001278074.1(COL5A1):c.2751G>A:p.Pro917=	coding	Benign/Likely_benign
9	134795319	T	C	T134795319C	COL5A1	NM_001278074.1(COL5A1):c.2799+4T>C	noncoding	Benign/Likely_benign
9	134795326	G	A	G134795326A	COL5A1	NM_001278074.1(COL5A1):c.2799+11G>A	noncoding	Benign
9	134795328	C	A	C134795328A	COL5A1	NM_001278074.1(COL5A1):c.2799+13C>A	noncoding	Benign
9	134795337	C	T	C134795337T	COL5A1	NM_001278074.1(COL5A1):c.2799+22C>T	noncoding	Benign
9	134795468	C	T	C134795468T	COL5A1	NM_001278074.1(COL5A1):c.2799+153C>T	noncoding	Benign
9	134796202	T	C	T134796202C	COL5A1	NM_001278074.1(COL5A1):c.2800-172T>C	noncoding	Benign
9	134796356	C	A	C134796356A	COL5A1	NM_001278074.1(COL5A1):c.2800-18C>A	noncoding	Benign
9	134796438	G	A	G134796438A	COL5A1	NM_001278074.1(COL5A1):c.2844+20G>A	noncoding	Benign/Likely_benign
9	134796459	G	T	G134796459T	COL5A1	NM_001278074.1(COL5A1):c.2844+41G>T	noncoding	Benign
9	134796581	T	G	T134796581G	COL5A1	NM_001278074.1(COL5A1):c.2844+163T>G	noncoding	Benign
9	134796731	A	G	A134796731G	COL5A1	NM_001278074.1(COL5A1):c.2845-117A>G	noncoding	Benign
9	134796778	A	G	A134796778G	COL5A1	NM_001278074.1(COL5A1):c.2845-70A>G	noncoding	Benign
9	134796811	A	G	A134796811G	COL5A1	NM_001278074.1(COL5A1):c.2845-37A>G	noncoding	Benign
9	134796855	A	G	A134796855G	COL5A1	NM_001278074.1(COL5A1):c.2852A>G:p.Asn951Ser	coding	Benign/Likely_benign
9	134796895	C	T	C134796895T	COL5A1	NM_001278074.1(COL5A1):c.2892C>T:p.Gly964=	coding	Benign/Likely_benign
9	134797017	G	A	G134797017A	COL5A1	NM_001278074.1(COL5A1):c.2898+116G>A	noncoding	Benign
9	134798090	A	G	A134798090G	COL5A1	NM_001278074.1(COL5A1):c.2899-318A>G	noncoding	Benign
9	134798135	C	T	C134798135T	COL5A1	NM_001278074.1(COL5A1):c.2899-273C>T	noncoding	Benign
9	134798147	G	A	G134798147A	COL5A1	NM_001278074.1(COL5A1):c.2899-261G>A	noncoding	Benign
9	134798472	A	T	A134798472T	COL5A1	NM_001278074.1(COL5A1):c.2952+11A>T	noncoding	Benign
9	134801998	C	T	C134801998T	COL5A1	NM_001278074.1(COL5A1):c.2997C>T:p.Val999=	coding	Benign/Likely_benign
9	134802852	C	G	C134802852G	COL5A1	NM_001278074.1(COL5A1):c.3007-36C>G	noncoding	Benign
9	134803007	G	C	G134803007C	COL5A1	NM_001278074.1(COL5A1):c.3114+12G>C	noncoding	Benign/Likely_benign
9	134805044	C	T	C134805044T	COL5A1	NM_001278074.1(COL5A1):c.3184C>T:p.Arg1062Ter	coding	Pathogenic
9	134805364	A	G	A134805364G	COL5A1	NM_001278074.1(COL5A1):c.3258+150A>G	noncoding	Benign
9	134806167	C	T	C134806167T	COL5A1	NM_001278074.1(COL5A1):c.3259-22C>T	noncoding	Benign
9	134806181	C	T	C134806181T	COL5A1	NM_001278074.1(COL5A1):c.3259-8C>T	noncoding	Benign/Likely_benign
9	134806221	C	T	C134806221T	COL5A1	NM_001278074.1(COL5A1):c.3291C>T:p.Ala1097=	coding	Benign/Likely_benign
9	134806233	C	T	C134806233T	COL5A1	NM_001278074.1(COL5A1):c.3303C>T:p.Ile1101=	coding	Benign/Likely_benign
9	134806307	C	T	C134806307T	COL5A1	NM_001278074.1(COL5A1):c.3366+11C>T	noncoding	Benign
9	134808903	T	G	T134808903G	COL5A1	NM_001278074.1(COL5A1):c.3367-280T>G	noncoding	Benign
9	134809213	C	T	C134809213T	COL5A1	NM_001278074.1(COL5A1):c.3397C>T:p.Arg1133Ter	coding	Pathogenic
9	134809297	C	T	C134809297T	COL5A1	NM_001278074.1(COL5A1):c.3474+7C>T	noncoding	Benign/Likely_benign
9	134809354	G	A	G134809354A	COL5A1	NM_001278074.1(COL5A1):c.3474+64G>A	noncoding	Benign
9	134809545	G	A	G134809545A	COL5A1	NM_001278074.1(COL5A1):c.3474+255G>A	noncoding	Benign
9	134809956	A	G	A134809956G	COL5A1	NM_001278074.1(COL5A1):c.3475-299A>G	noncoding	Benign
9	134810213	G	C	G134810213C	COL5A1	NM_001278074.1(COL5A1):c.3475-42G>C	noncoding	Benign
9	134810219	A	C	A134810219C	COL5A1	NM_001278074.1(COL5A1):c.3475-36A>C	noncoding	Benign
9	134810351	G	A	G134810351A	COL5A1	NM_001278074.1(COL5A1):c.3528+43G>A	noncoding	Benign
9	134810354	G	C	G134810354C	COL5A1	NM_001278074.1(COL5A1):c.3528+46G>C	noncoding	Benign
9	134810603	T	C	T134810603C	COL5A1	NM_001278074.1(COL5A1):c.3528+295T>C	noncoding	Benign
9	134811167	G	A	G134811167A	COL5A1	NM_001278074.1(COL5A1):c.3529-172G>A	noncoding	Benign
9	134812440	T	C	T134812440C	COL5A1	NM_001278074.1(COL5A1):c.3691-9T>C	noncoding	Benign/Likely_benign
9	134812568	G	A	G134812568A	COL5A1	NM_001278074.1(COL5A1):c.3745-37G>A	noncoding	Benign
9	134812587	G	A	G134812587A	COL5A1	NM_001278074.1(COL5A1):c.3745-18G>A	noncoding	Benign
9	134812665	C	T	C134812665T	COL5A1	NM_001278074.1(COL5A1):c.3805C>T:p.Gln1269Ter	coding	Pathogenic
9	134812759	A	T	A134812759T	COL5A1	NM_001278074.1(COL5A1):c.3852+47A>T	noncoding	Benign
9	134812893	A	G	A134812893G	COL5A1	NM_001278074.1(COL5A1):c.3852+181A>G	noncoding	Benign
9	134813985	C	T	C134813985T	COL5A1	NM_001278074.1(COL5A1):c.3855C>T:p.Gly1285=	coding	Benign/Likely_benign
9	134814018	G	A	G134814018A	COL5A1	NM_001278074.1(COL5A1):c.3888G>A:p.Pro1296=	coding	Benign/Likely_benign
9	134814039	G	T	G134814039T	COL5A1	NM_001278074.1(COL5A1):c.3906+3G>T	noncoding	Pathogenic
9	134814050	C	T	C134814050T	COL5A1	NM_001278074.1(COL5A1):c.3906+14C>T	noncoding	Benign
9	134814051	G	C	G134814051C	COL5A1	NM_001278074.1(COL5A1):c.3906+15G>C	noncoding	Benign/Likely_benign
9	134814055	C	T	C134814055T	COL5A1	NM_001278074.1(COL5A1):c.3906+19C>T	noncoding	Benign/Likely_benign
9	134814056	G	A	G134814056A	COL5A1	NM_001278074.1(COL5A1):c.3906+20G>A	noncoding	Benign/Likely_benign
9	134814539	A	G	A134814539G	COL5A1	NM_001278074.1(COL5A1):c.3907-258A>G	noncoding	Benign
9	134815557	C	T	C134815557T	COL5A1	NM_001278074.1(COL5A1):c.4015-19C>T	noncoding	Benign
9	134815626	C	T	C134815626T	COL5A1	NM_001278074.1(COL5A1):c.4065C>T:p.Pro1355=	coding	Benign/Likely_benign
9	134815988	G	A	G134815988A	COL5A1	NM_001278074.1(COL5A1):c.4122G>A:p.Thr1374=	coding	Benign/Likely_benign
9	134816275	G	A	G134816275A	COL5A1	NM_001278074.1(COL5A1):c.4122+287G>A	noncoding	Benign
9	134817038	C	T	C134817038T	COL5A1	NM_001278074.1(COL5A1):c.4135C>T:p.Pro1379Ser	coding	Benign/Likely_benign
9	134817088	T	G	T134817088G	COL5A1	NM_001278074.1(COL5A1):c.4176+9T>G	noncoding	Benign
9	134817114	A	C	A134817114C	COL5A1	NM_001278074.1(COL5A1):c.4176+35A>C	noncoding	Benign
9	134817127	A	G	A134817127G	COL5A1	NM_001278074.1(COL5A1):c.4176+48A>G	noncoding	Benign
9	134817336	C	G	C134817336G	COL5A1	NM_001278074.1(COL5A1):c.4176+257C>G	noncoding	Benign
9	134817671	T	C	T134817671C	COL5A1	NM_001278074.1(COL5A1):c.4177-107T>C	noncoding	Benign
9	134817836	C	T	C134817836T	COL5A1	NM_001278074.1(COL5A1):c.4230+5C>T	noncoding	Benign/Likely_benign
9	134817837	G	A	G134817837A	COL5A1	NM_001278074.1(COL5A1):c.4230+6G>A	noncoding	Benign/Likely_benign
9	134817934	T	C	T134817934C	COL5A1	NM_001278074.1(COL5A1):c.4230+103T>C	noncoding	Benign
9	134817949	C	T	C134817949T	COL5A1	NM_001278074.1(COL5A1):c.4230+118C>T	noncoding	Benign
9	134818428	G	A	G134818428A	COL5A1	NM_001278074.1(COL5A1):c.4231-228G>A	noncoding	Benign
9	134818473	G	A	G134818473A	COL5A1	NM_001278074.1(COL5A1):c.4231-183G>A	noncoding	Benign
9	134818644	G	A	G134818644A	COL5A1	NM_001278074.1(COL5A1):c.4231-12G>A	noncoding	Benign/Likely_benign
9	134818647	G	A	G134818647A	COL5A1	NM_001278074.1(COL5A1):c.4231-9G>A	noncoding	Benign
9	134818707	C	T	C134818707T	COL5A1	NM_001278074.1(COL5A1):c.4282C>T:p.Gln1428Ter	coding	Pathogenic
9	134818733	G	A	G134818733A	COL5A1	NM_001278074.1(COL5A1):c.4308G>A:p.Pro1436=	coding	Benign
9	134818764	G	A	G134818764A	COL5A1	NM_001278074.1(COL5A1):c.4338+1G>A	coding	Pathogenic
9	134818883	C	T	C134818883T	COL5A1	NM_001278074.1(COL5A1):c.4374C>T:p.Asp1458=	coding	Benign/Likely_benign
9	134818892	C	T	C134818892T	COL5A1	NM_001278074.1(COL5A1):c.4383C>T:p.Pro1461=	coding	Benign/Likely_benign
9	134818981	C	T	C134818981T	COL5A1	NM_001278074.1(COL5A1):c.4393-19C>T	noncoding	Benign
9	134818983	C	T	C134818983T	COL5A1	NM_001278074.1(COL5A1):c.4393-17C>T	noncoding	Benign
9	134818991	C	T	C134818991T	COL5A1	NM_001278074.1(COL5A1):c.4393-9C>T	noncoding	Benign/Likely_benign
9	134819187	A	C	A134819187C	COL5A1	NM_001278074.1(COL5A1):c.4446+134A>C	noncoding	Benign
9	134820071	G	A	G134820071A	COL5A1	NM_001278074.1(COL5A1):c.4447-45G>A	coding	Benign
9	134820135	G	A	G134820135A	COL5A1	NM_001278074.1(COL5A1):c.4466G>A:p.Gly1489Glu	coding	Pathogenic
9	134820142	C	T	C134820142T	COL5A1	NM_001278074.1(COL5A1):c.4473C>T:p.Ile1491=	coding	Benign/Likely_benign
9	134820143	G	A	G134820143A	COL5A1	NM_001278074.1(COL5A1):c.4474G>A:p.Gly1492Ser	coding	Pathogenic/Likely_pathogenic
9	134820151	G	A	G134820151A	COL5A1	NM_001278074.1(COL5A1):c.4482G>A:p.Pro1494=	coding	Benign/Likely_benign
9	134820151	G	C	G134820151C	COL5A1	NM_001278074.1(COL5A1):c.4482G>C:p.Pro1494=	coding	Benign
9	134820481	C	G	C134820481G	COL5A1	NM_001278074.1(COL5A1):c.4554+258C>G	noncoding	Benign
9	134820486	G	A	G134820486A	COL5A1	NM_001278074.1(COL5A1):c.4554+263G>A	noncoding	Benign
9	134820544	T	C	T134820544C	COL5A1	NM_001278074.1(COL5A1):c.4554+321T>C	noncoding	Benign
9	134821803	G	A	G134821803A	COL5A1	NM_001278074.1(COL5A1):c.4555-294G>A	noncoding	Benign
9	134822102	C	T	C134822102T	COL5A1	NM_001278074.1(COL5A1):c.4560C>T:p.Ile1520=	coding	Benign/Likely_benign
9	134822181	T	C	T134822181C	COL5A1	NM_001278074.1(COL5A1):c.4608+31T>C	noncoding	Benign
9	134822720	G	C	G134822720C	COL5A1	NM_001278074.1(COL5A1):c.4609-278G>C	noncoding	Benign
9	134822729	G	A	G134822729A	COL5A1	NM_001278074.1(COL5A1):c.4609-269G>A	noncoding	Benign
9	134822891	G	A	G134822891A	COL5A1	NM_001278074.1(COL5A1):c.4609-107G>A	noncoding	Benign
9	134822921	G	C	G134822921C	COL5A1	NM_001278074.1(COL5A1):c.4609-77G>C	noncoding	Benign
9	134823132	C	G	C134823132G	COL5A1	NM_001278074.1(COL5A1):c.4644+99C>G	noncoding	Benign
9	134823304	A	T	A134823304T	COL5A1	NM_001278074.1(COL5A1):c.4645-112A>T	noncoding	Benign
9	134823305	T	G	T134823305G	COL5A1	NM_001278074.1(COL5A1):c.4645-111T>G	noncoding	Benign
9	134823430	G	A	G134823430A	COL5A1	NM_001278074.1(COL5A1):c.4659G>A:p.Pro1553=	coding	Benign/Likely_benign
9	134823454	A	C	A134823454C	COL5A1	NM_001278074.1(COL5A1):c.4683A>C:p.Gly1561=	coding	Benign/Likely_benign
9	134823604	C	T	C134823604T	COL5A1	NM_001278074.1(COL5A1):c.4698+135C>T	noncoding	Benign
9	134823615	G	A	G134823615A	COL5A1	NM_001278074.1(COL5A1):c.4698+146G>A	noncoding	Benign
9	134824381	A	G	A134824381G	COL5A1	NM_001278074.1(COL5A1):c.4699-219A>G	noncoding	Benign
9	134824594	C	T	C134824594T	COL5A1	NM_001278074.1(COL5A1):c.4699-6C>T	noncoding	Benign/Likely_benign
9	134824689	G	C	G134824689C	COL5A1	NM_001278074.1(COL5A1):c.4788G>C:p.Gly1596=	coding	Benign
9	134824696	G	C	G134824696C	COL5A1	NM_001278074.1(COL5A1):c.4795G>C:p.Glu1599Gln	coding	Benign/Likely_benign
9	134824704	C	T	C134824704T	COL5A1	NM_001278074.1(COL5A1):c.4803C>T:p.Tyr1601=	coding	Benign
9	134824713	C	T	C134824713T	COL5A1	NM_001278074.1(COL5A1):c.4812C>T:p.Tyr1604=	coding	Benign/Likely_benign
9	134824817	G	C	G134824817C	COL5A1	NM_001278074.1(COL5A1):c.4916G>C:p.Cys1639Ser	coding	Pathogenic
9	134824828	C	T	C134824828T	COL5A1	NM_001278074.1(COL5A1):c.4927C>T:p.Gln1643Ter	coding	Pathogenic
9	134824842	C	T	C134824842T	COL5A1	NM_001278074.1(COL5A1):c.4941C>T:p.Pro1647=	coding	Benign/Likely_benign
9	134825481	C	T	C134825481T	COL5A1	NM_001278074.1(COL5A1):c.4955-311C>T	noncoding	Benign
9	134825495	G	T	G134825495T	COL5A1	NM_001278074.1(COL5A1):c.4955-297G>T	noncoding	Benign
9	134825533	C	A	C134825533A	COL5A1	NM_001278074.1(COL5A1):c.4955-259C>A	noncoding	Benign
9	134825534	C	T	C134825534T	COL5A1	NM_001278074.1(COL5A1):c.4955-258C>T	noncoding	Benign
9	134825673	C	T	C134825673T	COL5A1	NM_001278074.1(COL5A1):c.4955-119C>T	noncoding	Benign
9	134825744	G	A	G134825744A	COL5A1	NM_001278074.1(COL5A1):c.4955-48G>A	noncoding	Benign
9	134825764	T	C	T134825764C	COL5A1	NM_001278074.1(COL5A1):c.4955-28T>C	noncoding	Benign
9	134825776	C	T	C134825776T	COL5A1	NM_001278074.1(COL5A1):c.4955-16C>T	noncoding	Benign
9	134825805	C	T	C134825805T	COL5A1	NM_001278074.1(COL5A1):c.4968C>T:p.Val1656=	coding	Benign/Likely_benign
9	134825871	G	A	G134825871A	COL5A1	NM_001278074.1(COL5A1):c.5034G>A:p.Ser1678=	coding	Benign/Likely_benign
9	134825924	C	G	C134825924G	COL5A1	NM_001278074.1(COL5A1):c.5067+20C>G	noncoding	Benign
9	134826023	C	T	C134826023T	COL5A1	NM_001278074.1(COL5A1):c.5067+119C>T	noncoding	Benign
9	134829969	T	C	T134829969C	COL5A1	NM_001278074.1(COL5A1):c.5068-139T>C	noncoding	Benign/Likely_benign
9	134830324	G	A	G134830324A	COL5A1	NM_001278074.1(COL5A1):c.5136+148G>A	noncoding	Benign
9	134830465	C	T	C134830465T	COL5A1	NM_001278074.1(COL5A1):c.5136+289C>T	noncoding	Benign
9	134834829	C	T	C134834829T	COL5A1	NM_001278074.1(COL5A1):c.5137-142C>T	noncoding	Benign
9	134834959	C	T	C134834959T	COL5A1	NM_001278074.1(COL5A1):c.5137-12C>T	noncoding	Benign/Likely_benign
9	134834960	T	A	T134834960A	COL5A1	NM_001278074.1(COL5A1):c.5137-11T>A	noncoding	Pathogenic
9	134834960	T	C	T134834960C	COL5A1	NM_001278074.1(COL5A1):c.5137-11T>C	noncoding	Benign/Likely_benign
9	134834985	C	T	C134834985T	COL5A1	NM_001278074.1(COL5A1):c.5151C>T:p.Asp1717=	coding	Benign/Likely_benign
9	134834988	C	T	C134834988T	COL5A1	NM_001278074.1(COL5A1):c.5154C>T:p.Ala1718=	coding	Benign/Likely_benign
9	134834989	G	T	G134834989T	COL5A1	NM_001278074.1(COL5A1):c.5155G>T:p.Glu1719Ter	coding	Pathogenic
9	134835024	C	T	C134835024T	COL5A1	NM_001278074.1(COL5A1):c.5190C>T:p.Phe1730=	coding	Benign/Likely_benign
9	134835084	G	A	G134835084A	COL5A1	NM_001278074.1(COL5A1):c.5250G>A:p.Val1750=	coding	Benign/Likely_benign
9	134835104	C	T	C134835104T	COL5A1	NM_001278074.1(COL5A1):c.5270C>T:p.Thr1757Met	coding	Benign/Likely_benign
9	134841868	T	C	T134841868C	COL5A1	NM_001278074.1(COL5A1):c.5371-289T>C	noncoding	Benign
9	134842115	A	C	A134842115C	COL5A1	NM_001278074.1(COL5A1):c.5371-42A>C	noncoding	Benign
9	134842142	C	T	C134842142T	COL5A1	NM_001278074.1(COL5A1):c.5371-15C>T	noncoding	Benign
9	134842193	G	A	G134842193A	COL5A1	NM_001278074.1(COL5A1):c.5407G>A:p.Asp1803Asn	coding	Benign
9	134842255	G	C	G134842255C	COL5A1	NM_001278074.1(COL5A1):c.5469G>C:p.Ala1823=	coding	Benign/Likely_benign
9	134842317	C	T	C134842317T	COL5A1	NM_001278074.1(COL5A1):c.*14C>T	noncoding	Benign/Likely_benign
9	134842361	C	T	C134842361T	COL5A1	NM_001278074.1(COL5A1):c.*58C>T	noncoding	Benign/Likely_benign
9	134842386	C	T	C134842386T	COL5A1	NM_001278074.1(COL5A1):c.*83C>T	noncoding	Benign
9	134842448	G	A	G134842448A	COL5A1	NM_001278074.1(COL5A1):c.*145G>A	noncoding	Benign/Likely_benign
9	134842490	C	T	C134842490T	COL5A1	NM_000093.5(COL5A1):c.*187C>T	noncoding	Benign
9	134842570	C	T	C134842570T	COL5A1	NM_001278074.1(COL5A1):c.*267C>T	noncoding	Benign
9	134842586	G	A	G134842586A	COL5A1	NM_001278074.1(COL5A1):c.*283G>A	noncoding	Benign/Likely_benign
9	134842605	C	G	C134842605G	COL5A1	NM_001278074.1(COL5A1):c.*302C>G	noncoding	Benign/Likely_benign
9	134842727	A	G	A134842727G	COL5A1	NM_001278074.1(COL5A1):c.*424A>G	noncoding	Benign/Likely_benign
9	134842782	G	A	G134842782A	COL5A1	NM_000093.5(COL5A1):c.*479G>A	noncoding	Benign
9	134842792	A	G	A134842792G	COL5A1	NM_000093.5(COL5A1):c.*489A>G	noncoding	Benign
9	134842911	G	A	G134842911A	COL5A1	NM_001278074.1(COL5A1):c.*608G>A	noncoding	Benign/Likely_benign
9	134843036	C	A	C134843036A	COL5A1	NM_001278074.1(COL5A1):c.*733C>A	noncoding	Benign
9	134843168	T	A	T134843168A	COL5A1	NM_000093.5(COL5A1):c.*865T>A	noncoding	Benign
9	134843197	T	C	T134843197C	COL5A1	NM_001278074.1(COL5A1):c.*894T>C	noncoding	Benign
9	134843251	C	G	C134843251G	COL5A1	NM_001278074.1(COL5A1):c.*948C>G	noncoding	Benign/Likely_benign
9	134843428	A	T	A134843428T	COL5A1	NM_001278074.1(COL5A1):c.*1125A>T	noncoding	Benign
9	134843563	G	A	G134843563A	COL5A1	NM_001278074.1(COL5A1):c.*1260G>A	noncoding	Benign/Likely_benign
9	134843590	C	T	C134843590T	COL5A1	NM_000093.5(COL5A1):c.*1287C>T	noncoding	Benign
9	134843646	A	G	A134843646G	COL5A1	NM_001278074.1(COL5A1):c.*1343A>G	noncoding	Benign/Likely_benign
9	134843945	G	A	G134843945A	COL5A1	NM_001278074.1(COL5A1):c.*1642G>A	noncoding	Benign/Likely_benign
9	134844110	G	C	G134844110C	COL5A1	NM_001278074.1(COL5A1):c.*1807G>C	noncoding	Benign/Likely_benign
9	134844225	G	A	G134844225A	COL5A1	NM_001278074.1(COL5A1):c.*1922G>A	noncoding	Benign/Likely_benign
9	134844393	C	T	C134844393T	COL5A1	NM_001278074.1(COL5A1):c.*2090C>T	noncoding	Benign/Likely_benign
9	134844698	G	T	G134844698T	COL5A1	NM_001278074.1(COL5A1):c.*2395G>T	noncoding	Benign
9	134844804	T	C	T134844804C	COL5A1	NM_001278074.1(COL5A1):c.*2501T>C	noncoding	Benign
9	134880832	A	T	A134880832T	FCN2	NM_004108.3(FCN2):c.11A>T:p.Asp4Val	coding	Benign
9	134880854	C	T	C134880854T	FCN2	NM_004108.3(FCN2):c.33C>T:p.Gly11=	coding	Benign
9	134885244	C	T	C134885244T	FCN2	NM_004108.3(FCN2):c.307C>T:p.Arg103Cys	coding	Benign
9	134885372	T	C	T134885372C	FCN2	NM_004108.3(FCN2):c.429+6T>C	noncoding	Benign
9	135106789	C	T	C135106789T	OLFM1	NM_001282611.2(OLFM1):c.717C>T:p.Val239=	coding	Benign
9	135106834	C	T	C135106834T	OLFM1	NM_001282611.2(OLFM1):c.762C>T:p.Leu254=	coding	Benign
9	135119662	G	A	G135119662A	OLFM1	NM_001282611.2(OLFM1):c.942G>A:p.Lys314=	coding	Benign
9	135503570	C	T	C135503570T	MRPS2	NM_016034.5(MRPS2):c.328C>T:p.Arg110Cys	coding	Pathogenic
9	135503582	G	A	G135503582A	MRPS2	NM_016034.5(MRPS2):c.340G>A:p.Asp114Asn	coding	Pathogenic
9	135503655	G	A	G135503655A	MRPS2	NM_016034.5(MRPS2):c.413G>A:p.Arg138His	coding	Pathogenic
9	135523884	G	A	G135523884A	LCN1	NM_002297.4(LCN1):c.297G>A:p.Gly99=	coding	Benign
9	135523885	G	C	G135523885C	LCN1	NM_002297.4(LCN1):c.298G>C:p.Gly100Arg	coding	Benign
9	135639169	G	A	G135639169A	GLT6D1	NM_182974.3(GLT6D1):c.19C>T:p.Leu7=	coding	Benign
9	135693679	G	A	G135693679A	SOHLH1	NM_001101677.2(SOHLH1):c.1082C>T:p.Pro361Leu	coding	Benign
9	135694417	G	T	G135694417T	SOHLH1	NM_001101677.2(SOHLH1):c.916C>A:p.Leu306Met	coding	Benign
9	135696711	T	C	T135696711C	SOHLH1	NM_001101677.2(SOHLH1):c.562A>G:p.Arg188Gly	coding	Benign
9	135696730	C	T	C135696730T	SOHLH1	NM_001101677.2(SOHLH1):c.543G>A:p.Pro181=	coding	Benign
9	135696752	G	A	G135696752A	SOHLH1	NM_001101677.2(SOHLH1):c.521C>T:p.Ser174Leu	coding	Benign
9	135696814	A	G	A135696814G	SOHLH1	NM_001101677.2(SOHLH1):c.468-9T>C	noncoding	Benign
9	135697628	C	T	C135697628T	SOHLH1	NM_001101677.2(SOHLH1):c.346-1G>A	coding	Benign
9	135698464	C	T	C135698464T	SOHLH1	NM_001101677.2(SOHLH1):c.210G>A:p.Ser70=	coding	Benign
9	135699441	G	C	G135699441C	SOHLH1	NM_001101677.2(SOHLH1):c.27C>G:p.Tyr9Ter	coding	Pathogenic/Likely_pathogenic
9	135702113	A	T	A135702113T	KCNT1	NC_000009.12:g.135702113A>T	noncoding	Benign
9	135702258	C	A	C135702258A	KCNT1	NM_020822.3(KCNT1):c.-1C>A	noncoding	Benign/Likely_benign
9	135702288	G	A	G135702288A	KCNT1	NM_020822.3(KCNT1):c.30G>A:p.Pro10=	coding	Benign
9	135702317	G	C	G135702317C	KCNT1	NM_020822.3(KCNT1):c.59G>C:p.Gly20Ala	coding	Benign/Likely_benign
9	135702332	G	C	G135702332C	KCNT1	NM_020822.3(KCNT1):c.74G>C:p.Arg25Pro	coding	Benign
9	135714582	C	T	C135714582T	KCNT1	NM_020822.3(KCNT1):c.116C>T:p.Pro39Leu	coding	Benign
9	135714740	T	C	T135714740C	KCNT1	NM_020822.3(KCNT1):c.254+20T>C	noncoding	Benign
9	135749803	C	T	C135749803T	KCNT1	NM_020822.3(KCNT1):c.255-295C>T	noncoding	Benign
9	135749804	G	A	G135749804A	KCNT1	NM_020822.3(KCNT1):c.255-294G>A	noncoding	Benign
9	135749934	A	G	A135749934G	KCNT1	NM_020822.3(KCNT1):c.255-164A>G	noncoding	Benign
9	135750176	G	A	G135750176A	KCNT1	NM_020822.3(KCNT1):c.333G>A:p.Ser111=	coding	Benign/Likely_benign
9	135751066	C	A	C135751066A	KCNT1	NM_020822.3(KCNT1):c.434+25C>A	noncoding	Benign
9	135751310	G	A	G135751310A	KCNT1	NM_020822.3(KCNT1):c.434+269G>A	noncoding	Benign
9	135753680	G	C	G135753680C	KCNT1	NM_020822.3(KCNT1):c.435-257G>C	noncoding	Benign
9	135753870	C	T	C135753870T	KCNT1	NM_020822.3(KCNT1):c.435-67C>T	noncoding	Benign
9	135753920	G	A	G135753920A	KCNT1	NM_020822.3(KCNT1):c.435-17G>A	noncoding	Benign
9	135755035	C	T	C135755035T	KCNT1	NM_020822.3(KCNT1):c.492-86C>T	noncoding	Benign
9	135756648	C	T	C135756648T	KCNT1	NM_020822.3(KCNT1):c.541-225C>T	noncoding	Benign
9	135756943	G	A	G135756943A	KCNT1	NM_020822.3(KCNT1):c.600+11G>A	noncoding	Benign
9	135756991	A	C	A135756991C	KCNT1	NM_020822.3(KCNT1):c.600+59A>C	noncoding	Benign
9	135756992	G	A	G135756992A	KCNT1	NM_020822.3(KCNT1):c.600+60G>A	noncoding	Benign
9	135757294	A	G	A135757294G	KCNT1	NM_020822.3(KCNT1):c.676-4A>G	noncoding	Benign
9	135757333	C	G	C135757333G	KCNT1	NM_020822.3(KCNT1):c.711C>G:p.Pro237=	coding	Benign
9	135758275	A	G	A135758275G	KCNT1	NM_020822.3(KCNT1):c.760-139A>G	noncoding	Benign
9	135758439	G	A	G135758439A	KCNT1	NM_020822.3(KCNT1):c.785G>A:p.Arg262Gln	coding	Pathogenic/Likely_pathogenic
9	135758462	C	G	C135758462G	KCNT1	NM_020822.3(KCNT1):c.808C>G:p.Gln270Glu	coding	Pathogenic
9	135758465	G	T	G135758465T	KCNT1	NM_020822.3(KCNT1):c.811G>T:p.Val271Phe	coding	Pathogenic
9	135758518	G	A	G135758518A	KCNT1	NM_020822.3(KCNT1):c.854+10G>A	noncoding	Benign/Likely_benign
9	135759636	A	G	A135759636G	KCNT1	NM_020822.3(KCNT1):c.855-43A>G	noncoding	Benign
9	135759686	G	A	G135759686A	KCNT1	NM_020822.3(KCNT1):c.862G>A:p.Gly288Ser	coding	Pathogenic
9	135759802	A	G	A135759802G	KCNT1	NM_020822.3(KCNT1):c.978A>G:p.Pro326=	coding	Benign
9	135759809	C	T	C135759809T	KCNT1	NM_020822.3(KCNT1):c.985C>T:p.Leu329=	coding	Benign/Likely_benign
9	135759832	C	T	C135759832T	KCNT1	NM_020822.3(KCNT1):c.1008C>T:p.Cys336=	coding	Benign/Likely_benign
9	135760151	C	T	C135760151T	KCNT1	NM_020822.3(KCNT1):c.1035+292C>T	noncoding	Benign
9	135764798	C	T	C135764798T	KCNT1	NM_020822.3(KCNT1):c.1036-233C>T	noncoding	Benign
9	135764824	C	T	C135764824T	KCNT1	NM_020822.3(KCNT1):c.1036-207C>T	noncoding	Benign
9	135764825	G	A	G135764825A	KCNT1	NM_020822.3(KCNT1):c.1036-206G>A	noncoding	Benign
9	135764861	A	G	A135764861G	KCNT1	NM_020822.3(KCNT1):c.1036-170A>G	noncoding	Benign
9	135764937	T	C	T135764937C	KCNT1	NM_020822.3(KCNT1):c.1036-94T>C	noncoding	Benign
9	135764992	A	G	A135764992G	KCNT1	NM_020822.3(KCNT1):c.1036-39A>G	noncoding	Benign
9	135765016	G	A	G135765016A	KCNT1	NM_020822.3(KCNT1):c.1036-15G>A	noncoding	Benign
9	135765033	C	G	C135765033G	KCNT1	NM_020822.3(KCNT1):c.1038C>G:p.Phe346Leu	coding	Pathogenic
9	135765051	C	G	C135765051G	KCNT1	NM_020822.3(KCNT1):c.1056C>G:p.Leu352=	coding	Benign
9	135765099	G	A	G135765099A	KCNT1	NM_020822.3(KCNT1):c.1104G>A:p.Ala368=	coding	Benign/Likely_benign
9	135765129	C	T	C135765129T	KCNT1	NM_020822.3(KCNT1):c.1134C>T:p.Val378=	coding	Benign/Likely_benign
9	135765177	C	T	C135765177T	KCNT1	NM_020822.3(KCNT1):c.1182C>T:p.Tyr394=	coding	Benign/Likely_benign
9	135765183	C	T	C135765183T	KCNT1	NM_020822.3(KCNT1):c.1188C>T:p.His396=	coding	Benign
9	135765207	T	G	T135765207G	KCNT1	NM_020822.3(KCNT1):c.1200+12T>G	noncoding	Benign
9	135765325	T	C	T135765325C	KCNT1	NM_020822.3(KCNT1):c.1200+130T>C	noncoding	Benign
9	135765618	C	T	C135765618T	KCNT1	NM_020822.3(KCNT1):c.1201-6C>T	noncoding	Benign
9	135765706	G	A	G135765706A	KCNT1	NM_020822.3(KCNT1):c.1283G>A:p.Arg428Gln	coding	Pathogenic
9	135765789	A	G	A135765789G	KCNT1	NM_020822.3(KCNT1):c.1337+29A>G	noncoding	Benign
9	135765841	G	A	G135765841A	KCNT1	NM_020822.3(KCNT1):c.1337+81G>A	noncoding	Benign
9	135765881	A	C	A135765881C	KCNT1	NM_020822.3(KCNT1):c.1337+121A>C	noncoding	Benign
9	135768391	G	A	G135768391A	KCNT1	NM_020822.3(KCNT1):c.1338-219G>A	noncoding	Benign
9	135768554	G	A	G135768554A	KCNT1	NM_020822.3(KCNT1):c.1338-56G>A	noncoding	Benign
9	135768702	G	A	G135768702A	KCNT1	NM_020822.3(KCNT1):c.1401+29G>A	noncoding	Benign
9	135768765	C	T	C135768765T	KCNT1	NM_020822.3(KCNT1):c.1402-64C>T	noncoding	Benign
9	135768847	C	A	C135768847A	KCNT1	NM_020822.3(KCNT1):c.1420C>A:p.Arg474Ser	coding	Pathogenic
9	135768847	C	T	C135768847T	KCNT1	NM_020822.3(KCNT1):c.1420C>T:p.Arg474Cys	coding	Pathogenic
9	135768849	C	T	C135768849T	KCNT1	NM_020822.3(KCNT1):c.1422C>T:p.Arg474=	coding	Benign/Likely_benign
9	135768853	T	C	T135768853C	KCNT1	NM_020822.3(KCNT1):c.1426T>C:p.Trp476Arg	coding	Pathogenic
9	135769033	A	G	A135769033G	KCNT1	NM_020822.3(KCNT1):c.1510+96A>G	noncoding	Benign
9	135769100	T	C	T135769100C	KCNT1	NM_020822.3(KCNT1):c.1510+163T>C	noncoding	Benign
9	135769202	A	G	A135769202G	KCNT1	NM_020822.3(KCNT1):c.1510+265A>G	noncoding	Benign
9	135769244	T	C	T135769244C	KCNT1	NM_020822.3(KCNT1):c.1510+307T>C	noncoding	Benign
9	135769258	C	T	C135769258T	KCNT1	NM_020822.3(KCNT1):c.1510+321C>T	noncoding	Benign
9	135769969	G	A	G135769969A	KCNT1	NM_020822.3(KCNT1):c.1533G>A:p.Glu511=	coding	Benign/Likely_benign
9	135769981	C	T	C135769981T	KCNT1	NM_020822.3(KCNT1):c.1545C>T:p.Ala515=	coding	Benign/Likely_benign
9	135769982	A	G	A135769982G	KCNT1	NM_020822.3(KCNT1):c.1546A>G:p.Met516Val	coding	Pathogenic/Likely_pathogenic
9	135770050	C	T	C135770050T	KCNT1	NM_020822.3(KCNT1):c.1614C>T:p.Arg538=	coding	Benign/Likely_benign
9	135770093	C	T	C135770093T	KCNT1	NM_020822.3(KCNT1):c.1619+38C>T	noncoding	Benign
9	135770100	G	A	G135770100A	KCNT1	NM_020822.3(KCNT1):c.1619+45G>A	noncoding	Benign
9	135770304	A	G	A135770304G	KCNT1	NM_020822.3(KCNT1):c.1626A>G:p.Gly542=	coding	Benign/Likely_benign
9	135770427	G	A	G135770427A	KCNT1	NM_020822.3(KCNT1):c.1749G>A:p.Ala583=	coding	Benign
9	135770463	A	G	A135770463G	KCNT1	NM_020822.3(KCNT1):c.1769+16A>G	noncoding	Benign
9	135770514	T	G	T135770514G	KCNT1	NM_020822.3(KCNT1):c.1769+67T>G	noncoding	Benign
9	135770619	G	T	G135770619T	KCNT1	NM_020822.3(KCNT1):c.1769+172G>T	noncoding	Benign
9	135770815	G	A	G135770815A	KCNT1	NM_020822.3(KCNT1):c.1770-42G>A	noncoding	Benign
9	135770917	G	A	G135770917A	KCNT1	NM_020822.3(KCNT1):c.1830G>A:p.Pro610=	coding	Benign
9	135771116	G	A	G135771116A	KCNT1	NM_020822.3(KCNT1):c.2008+21G>A	noncoding	Benign
9	135771209	T	C	T135771209C	KCNT1	NM_020822.3(KCNT1):c.2008+114T>C	noncoding	Benign
9	135771210	G	A	G135771210A	KCNT1	NM_020822.3(KCNT1):c.2008+115G>A	noncoding	Benign
9	135771310	G	A	G135771310A	KCNT1	NM_020822.3(KCNT1):c.2008+215G>A	noncoding	Benign
9	135771333	A	G	A135771333G	KCNT1	NM_020822.3(KCNT1):c.2008+238A>G	noncoding	Benign
9	135772493	G	A	G135772493A	KCNT1	NM_020822.3(KCNT1):c.2009-222G>A	noncoding	Benign
9	135772509	G	A	G135772509A	KCNT1	NM_020822.3(KCNT1):c.2009-206G>A	noncoding	Benign
9	135772872	G	A	G135772872A	KCNT1	NM_020822.3(KCNT1):c.2166G>A:p.Leu722=	coding	Benign/Likely_benign
9	135772916	C	T	C135772916T	KCNT1	NM_020822.3(KCNT1):c.2210C>T:p.Thr737Met	coding	Benign
9	135772941	C	T	C135772941T	KCNT1	NM_020822.3(KCNT1):c.2235C>T:p.Ser745=	coding	Benign/Likely_benign
9	135773005	G	A	G135773005A	KCNT1	NM_020822.3(KCNT1):c.2243+56G>A	noncoding	Benign
9	135773226	A	T	A135773226T	KCNT1	NM_020822.3(KCNT1):c.2243+277A>T	noncoding	Benign
9	135774983	C	T	C135774983T	KCNT1	NM_020822.3(KCNT1):c.2244-327C>T	noncoding	Benign
9	135775001	T	C	T135775001C	KCNT1	NM_020822.3(KCNT1):c.2244-309T>C	noncoding	Benign
9	135775093	T	C	T135775093C	KCNT1	NM_020822.3(KCNT1):c.2244-217T>C	noncoding	Benign
9	135775126	G	A	G135775126A	KCNT1	NM_020822.3(KCNT1):c.2244-184G>A	noncoding	Benign
9	135775346	C	G	C135775346G	KCNT1	NM_020822.3(KCNT1):c.2280C>G:p.Ile760Met	coding	Pathogenic/Likely_pathogenic
9	135775422	C	T	C135775422T	KCNT1	NM_020822.3(KCNT1):c.2349+7C>T	noncoding	Benign
9	135775474	T	C	T135775474C	KCNT1	NM_020822.3(KCNT1):c.2349+59T>C	noncoding	Benign
9	135775563	A	G	A135775563G	KCNT1	NM_020822.3(KCNT1):c.2349+148A>G	noncoding	Benign
9	135775684	C	T	C135775684T	KCNT1	NM_020822.3(KCNT1):c.2349+269C>T	noncoding	Benign
9	135775716	G	A	G135775716A	KCNT1	NM_020822.3(KCNT1):c.2349+301G>A	noncoding	Benign
9	135775734	C	A	C135775734A	KCNT1	NM_020822.3(KCNT1):c.2349+319C>A	noncoding	Benign
9	135775741	G	T	G135775741T	KCNT1	NM_020822.3(KCNT1):c.2349+326G>T	noncoding	Benign
9	135777229	A	G	A135777229G	KCNT1	NM_020822.3(KCNT1):c.2350-109A>G	noncoding	Benign
9	135777364	C	T	C135777364T	KCNT1	NM_020822.3(KCNT1):c.2376C>T:p.Asp792=	coding	Benign/Likely_benign
9	135777374	T	C	T135777374C	KCNT1	NM_020822.3(KCNT1):c.2386T>C:p.Tyr796His	coding	Pathogenic
9	135777415	G	A	G135777415A	KCNT1	NM_020822.3(KCNT1):c.2427G>A:p.Thr809=	coding	Benign
9	135777418	C	T	C135777418T	KCNT1	NM_020822.3(KCNT1):c.2430C>T:p.Ala810=	coding	Benign
9	135778130	C	A	C135778130A	KCNT1	NM_020822.3(KCNT1):c.2523-294C>A	noncoding	Benign
9	135778444	A	G	A135778444G	KCNT1	NM_020822.3(KCNT1):c.2543A>G:p.Glu848Gly	coding	Benign/Likely_benign
9	135778605	C	G	C135778605G	KCNT1	NM_020822.3(KCNT1):c.2595-83C>G	noncoding	Benign
9	135778712	C	T	C135778712T	KCNT1	NM_020822.3(KCNT1):c.2619C>T:p.Gly873=	coding	Benign
9	135778780	T	G	T135778780G	KCNT1	NM_020822.3(KCNT1):c.2687T>G:p.Met896Arg	coding	Pathogenic
9	135778781	G	A	G135778781A	KCNT1	NM_020822.3(KCNT1):c.2688G>A:p.Met896Ile	coding	Pathogenic
9	135778781	G	C	G135778781C	KCNT1	NM_020822.3(KCNT1):c.2688G>C:p.Met896Ile	coding	Pathogenic
9	135778784	G	A	G135778784A	KCNT1	NM_020822.3(KCNT1):c.2691G>A:p.Ala897=	coding	Benign/Likely_benign
9	135778810	A	G	A135778810G	KCNT1	NM_020822.3(KCNT1):c.2717A>G:p.Gln906Arg	coding	Pathogenic
9	135778822	G	A	G135778822A	KCNT1	NM_020822.3(KCNT1):c.2729G>A:p.Arg910Gln	coding	Benign/Likely_benign
9	135778831	A	G	A135778831G	KCNT1	NM_020822.3(KCNT1):c.2729+9A>G	noncoding	Benign
9	135778853	A	G	A135778853G	KCNT1	NM_020822.3(KCNT1):c.2729+31A>G	noncoding	Benign
9	135779411	C	T	C135779411T	KCNT1	NM_020822.3(KCNT1):c.2782C>T:p.Arg928Cys	coding	Pathogenic
9	135779429	G	A	G135779429A	KCNT1	NM_020822.3(KCNT1):c.2800G>A:p.Ala934Thr	coding	Pathogenic
9	135779480	C	T	C135779480T	KCNT1	NM_020822.3(KCNT1):c.2841+10C>T	noncoding	Benign/Likely_benign
9	135779682	G	A	G135779682A	KCNT1	NM_020822.3(KCNT1):c.2841+212G>A	noncoding	Benign
9	135783944	C	G	C135783944G	KCNT1	NM_020822.3(KCNT1):c.2842-80C>G	noncoding	Benign
9	135783955	A	C	A135783955C	KCNT1	NM_020822.3(KCNT1):c.2842-69A>C	noncoding	Benign
9	135784031	G	T	G135784031T	KCNT1	NM_020822.3(KCNT1):c.2849G>T:p.Arg950Leu	coding	Pathogenic
9	135784074	C	T	C135784074T	KCNT1	NM_020822.3(KCNT1):c.2892C>T:p.Phe964=	coding	Benign/Likely_benign
9	135784126	G	C	G135784126C	KCNT1	NM_020822.3(KCNT1):c.2943+1G>C	coding	Pathogenic
9	135784131	C	T	C135784131T	KCNT1	NM_020822.3(KCNT1):c.2943+6C>T	noncoding	Benign/Likely_benign
9	135784585	G	A	G135784585A	KCNT1	NM_020822.3(KCNT1):c.2994G>A:p.Leu998=	coding	Benign/Likely_benign
9	135784592	A	G	A135784592G	KCNT1	NM_020822.3(KCNT1):c.3001A>G:p.Thr1001Ala	coding	Benign/Likely_benign
9	135784597	G	A	G135784597A	KCNT1	NM_020822.3(KCNT1):c.3006G>A:p.Pro1002=	coding	Benign
9	135784772	C	T	C135784772T	KCNT1	NM_020822.3(KCNT1):c.3039C>T:p.Thr1013=	coding	Benign/Likely_benign
9	135785302	C	T	C135785302T	KCNT1	NM_020822.3(KCNT1):c.3157-8C>T	noncoding	Benign/Likely_benign
9	135785397	A	T	A135785397T	KCNT1	NM_020822.3(KCNT1):c.3177+67A>T	noncoding	Benign
9	135786258	G	T	G135786258T	KCNT1	NM_020822.3(KCNT1):c.3239G>T:p.Gly1080Val	coding	Benign/Likely_benign
9	135786314	C	T	C135786314T	KCNT1	NM_020822.3(KCNT1):c.3295C>T:p.Pro1099Ser	coding	Benign/Likely_benign
9	135786331	G	A	G135786331A	KCNT1	NM_020822.3(KCNT1):c.3312G>A:p.Leu1104=	coding	Benign
9	135786406	C	T	C135786406T	KCNT1	NM_020822.3(KCNT1):c.3387C>T:p.Ala1129=	coding	Benign/Likely_benign
9	135786407	G	A	G135786407A	KCNT1	NM_020822.3(KCNT1):c.3388G>A:p.Ala1130Thr	coding	Benign/Likely_benign
9	135786409	G	A	G135786409A	KCNT1	NM_020822.3(KCNT1):c.3390G>A:p.Ala1130=	coding	Benign
9	135786514	C	T	C135786514T	KCNT1	NM_020822.3(KCNT1):c.3495C>T:p.Thr1165=	coding	Benign/Likely_benign
9	135786537	G	A	G135786537A	KCNT1	NM_020822.3(KCNT1):c.3502+16G>A	noncoding	Benign
9	135791729	T	C	T135791729C	KCNT1	NM_020822.3(KCNT1):c.3503-68T>C	noncoding	Benign
9	135791849	G	T	G135791849T	KCNT1	NM_020822.3(KCNT1):c.3555G>T:p.Pro1185=	coding	Benign/Likely_benign
9	135791944	T	C	T135791944C	KCNT1	NM_020822.3(KCNT1):c.3587+63T>C	noncoding	Benign
9	135791952	C	T	C135791952T	KCNT1	NM_020822.3(KCNT1):c.3587+71C>T	noncoding	Benign
9	135792059	C	T	C135792059T	KCNT1	NM_020822.3(KCNT1):c.3606C>T:p.Asp1202=	coding	Benign/Likely_benign
9	135792134	C	T	C135792134T	KCNT1	NM_020822.3(KCNT1):c.3681C>T:p.Pro1227=	coding	Benign/Likely_benign
9	135792143	C	T	C135792143T	KCNT1	NM_020822.3(KCNT1):c.3690C>T:p.Arg1230=	coding	Benign/Likely_benign
9	135818051	G	A	G135818051A	CAMSAP1	NM_015447.4(CAMSAP1):c.4197C>T:p.Gly1399=	coding	Benign
9	135822228	G	A	G135822228A	CAMSAP1	NM_015447.4(CAMSAP1):c.2433C>T:p.Ser811=	coding	Benign
9	135822993	G	A	G135822993A	CAMSAP1	NM_015447.4(CAMSAP1):c.1668C>T:p.Asp556=	coding	Benign
9	135827435	A	G	A135827435G	CAMSAP1	NM_015447.4(CAMSAP1):c.1195T>C:p.Tyr399His	coding	Benign
9	135882859	G	A	G135882859A	CAMSAP1	NM_015447.4(CAMSAP1):c.380C>T:p.Thr127Ile	coding	Benign
9	135955409	G	A	G135955409A	UBAC1	NM_016172.3(UBAC1):c.145C>T:p.His49Tyr	coding	Benign
9	136013230	C	T	C136013230T	NACC2	NM_144653.5(NACC2):c.1224G>A:p.Pro408=	coding	Benign
9	136013248	G	A	G136013248A	NACC2	NM_144653.5(NACC2):c.1206C>T:p.Ser402=	coding	Benign
9	136196500	G	T	G136196500T	LHX3	NM_178138.6(LHX3):c.*825C>A	noncoding	Benign
9	136197140	A	T	A136197140T	LHX3	NM_178138.6(LHX3):c.*185T>A	noncoding	Benign
9	136198722	G	C	G136198722C	LHX3	NM_178138.6(LHX3):c.705C>G:p.Arg235=	coding	Benign
9	136198755	C	T	C136198755T	LHX3	NM_178138.6(LHX3):c.672G>A:p.Trp224Ter	coding	Pathogenic
9	136198798	G	A	G136198798A	LHX3	NM_178138.6(LHX3):c.629C>T:p.Ala210Val	coding	Pathogenic
9	136199156	C	G	C136199156G	LHX3	NM_178138.6(LHX3):c.455-97G>C	noncoding	Benign
9	136199800	T	C	T136199800C	LHX3	NM_178138.6(LHX3):c.332A>G:p.Tyr111Cys	coding	Pathogenic
9	136200700	T	A	T136200700A	LHX3	NM_178138.6(LHX3):c.133A>T:p.Lys45Ter	coding	Pathogenic
9	136202927	A	G	A136202927G	LHX3	NM_178138.6(LHX3):c.79+2007T>C	noncoding	Benign
9	136202959	C	T	C136202959T	LHX3	NM_178138.6(LHX3):c.79+1975G>A	coding	Benign
9	136205052	T	G	T136205052G	LHX3	NM_178138.6(LHX3):c.-40A>C	noncoding	Benign
9	136208887	G	A	G136208887A	QSOX2	NM_181701.4(QSOX2):c.1938C>T:p.Gly646=	coding	Benign
9	136364010	A	G	A136364010G	CARD9	NM_052813.4(CARD9):c.*292T>C	noncoding	Benign
9	136364317	G	A	G136364317A	CARD9	NM_052813.4(CARD9):c.1596C>T:p.Asp532=	coding	Benign
9	136364362	C	T	C136364362T	CARD9	NM_052813.5(CARD9):c.1551G>A:p.Gln517=	coding	Benign
9	136365192	C	T	C136365192T	CARD9	NM_052813.4(CARD9):c.1383G>A:p.Pro461=	coding	Benign/Likely_benign
9	136367753	C	G	C136367753G	CARD9	NM_052813.4(CARD9):c.1153G>C:p.Val385Leu	coding	Benign/Likely_benign
9	136367788	C	G	C136367788G	CARD9	NM_052813.4(CARD9):c.1118G>C:p.Arg373Pro	coding	Pathogenic
9	136370362	G	A	G136370362A	CARD9	NM_052813.4(CARD9):c.883C>T:p.Gln295Ter	coding	Pathogenic
9	136370375	C	T	C136370375T	CARD9	NM_052813.4(CARD9):c.870G>A:p.Ala290=	coding	Benign
9	136370380	G	A	G136370380A	CARD9	NM_052813.4(CARD9):c.865C>T:p.Gln289Ter	coding	Pathogenic
9	136370448	C	A	C136370448A	CARD9	NM_052813.4(CARD9):c.808-11G>T	noncoding	Benign
9	136370636	C	T	C136370636T	CARD9	NM_052813.4(CARD9):c.693G>A:p.Thr231=	coding	Benign/Likely_benign
9	136370668	C	T	C136370668T	CARD9	NM_052813.5(CARD9):c.661G>A:p.Glu221Lys	coding	Benign
9	136370837	G	A	G136370837A	CARD9	NM_052813.4(CARD9):c.627+4C>T	noncoding	Benign
9	136371144	G	A	G136371144A	CARD9	NM_052813.4(CARD9):c.324C>T:p.Asp108=	coding	Benign/Likely_benign
9	136371345	G	A	G136371345A	CARD9	NM_052813.4(CARD9):c.301C>T:p.Arg101Cys	coding	Pathogenic
9	136371349	C	T	C136371349T	CARD9	NM_052813.4(CARD9):c.297G>A:p.Pro99=	coding	Benign
9	136371358	G	T	G136371358T	CARD9	NM_052813.4(CARD9):c.288C>A:p.Gly96=	coding	Benign/Likely_benign
9	136371418	G	A	G136371418A	CARD9	NM_052813.4(CARD9):c.228C>T:p.Tyr76=	coding	Benign
9	136371953	G	A	G136371953A	CARD9	NM_052813.5(CARD9):c.126C>T:p.Pro42=	coding	Benign
9	136372044	C	T	C136372044T	CARD9	NM_052813.5(CARD9):c.35G>A:p.Ser12Asn	coding	Benign
9	136372055	G	A	G136372055A	CARD9	NM_052813.5(CARD9):c.24C>T:p.Asp8=	coding	Benign
9	136373539	T	G	T136373539G	CARD9	NM_052813.4(CARD9):c.-24A>C	noncoding	Benign
9	136377606	A	G	A136377606G	CARD9	NM_003086.3(SNAPC4):c.4221T>C:p.Ser1407=	coding	Benign
9	136378050	T	C	T136378050C	CARD9	NM_003086.3(SNAPC4):c.3777A>G:p.Leu1259=	coding	Benign
9	136410732	C	T	C136410732T	PMPCA	NM_015160.3(PMPCA):c.64C>T:p.Arg22Trp	coding	Pathogenic
9	136412502	C	T	C136412502T	PMPCA	NM_015160.3(PMPCA):c.287C>T:p.Ser96Leu	coding	Pathogenic
9	136414579	C	T	C136414579T	PMPCA	NM_015160.3(PMPCA):c.464C>T:p.Ala155Val	coding	Benign
9	136416312	G	A	G136416312A	PMPCA	NM_015160.3(PMPCA):c.554G>A:p.Arg185Gln	coding	Pathogenic
9	136417064	C	T	C136417064T	PMPCA	NM_015160.3(PMPCA):c.747C>T:p.Asp249=	coding	Benign
9	136418630	G	A	G136418630A	PMPCA	NM_015160.3(PMPCA):c.1066G>A:p.Gly356Ser	coding	Pathogenic
9	136418847	G	A	G136418847A	PMPCA	NM_015160.3(PMPCA):c.1129G>A:p.Ala377Thr	coding	Pathogenic
9	136421985	C	T	C136421985T	PMPCA	NM_015160.3(PMPCA):c.1408+9C>T	noncoding	Benign
9	136423229	G	A	G136423229A	PMPCA	NM_015160.3(PMPCA):c.1543G>A:p.Gly515Arg	coding	Pathogenic
9	136428859	T	C	T136428859C	INPP5E	NM_019892.6(INPP5E):c.*816A>G	noncoding	Benign
9	136428972	T	C	T136428972C	INPP5E	NM_019892.6(INPP5E):c.*703A>G	noncoding	Benign
9	136429347	A	G	A136429347G	INPP5E	NM_019892.6(INPP5E):c.*328T>C	noncoding	Benign
9	136429731	G	A	G136429731A	INPP5E	NM_019892.6(INPP5E):c.1879C>T:p.Gln627Ter	coding	Pathogenic
9	136429735	C	T	C136429735T	INPP5E	NM_019892.6(INPP5E):c.1875G>A:p.Glu625=	coding	Benign/Likely_benign
9	136429766	A	C	A136429766C	INPP5E	NM_019892.6(INPP5E):c.1844T>G:p.Leu615Ter	coding	Pathogenic
9	136430122	C	T	C136430122T	INPP5E	NM_019892.6(INPP5E):c.1802+155G>A	noncoding	Benign
9	136430228	C	T	C136430228T	INPP5E	NM_019892.6(INPP5E):c.1802+49G>A	noncoding	Benign
9	136430285	C	A	C136430285A	INPP5E	NM_019892.6(INPP5E):c.1794G>T:p.Gly598=	coding	Benign
9	136430288	C	T	C136430288T	INPP5E	NM_019892.6(INPP5E):c.1791G>A:p.Pro597=	coding	Benign
9	136430309	G	A	G136430309A	INPP5E	NM_019892.6(INPP5E):c.1770C>T:p.Leu590=	coding	Benign/Likely_benign
9	136430325	C	T	C136430325T	INPP5E	NM_019892.6(INPP5E):c.1754G>A:p.Arg585His	coding	Pathogenic
9	136430391	C	T	C136430391T	INPP5E	NM_019892.6(INPP5E):c.1688G>A:p.Arg563His	coding	Pathogenic
9	136430395	T	C	T136430395C	INPP5E	NM_019892.6(INPP5E):c.1684A>G:p.Ser562Gly	coding	Pathogenic
9	136431131	G	A	G136431131A	INPP5E	NM_019892.6(INPP5E):c.1550-14C>T	noncoding	Benign/Likely_benign
9	136431801	T	C	T136431801C	INPP5E	NM_019892.6(INPP5E):c.1549+23A>G	noncoding	Benign
9	136431830	G	A	G136431830A	INPP5E	NM_019892.6(INPP5E):c.1543C>T:p.Arg515Trp	coding	Pathogenic
9	136431852	G	A	G136431852A	INPP5E	NM_019892.6(INPP5E):c.1521C>T:p.His507=	coding	Benign
9	136431903	G	A	G136431903A	INPP5E	NM_019892.6(INPP5E):c.1470C>T:p.Asp490=	coding	Benign
9	136431905	C	A	C136431905A	INPP5E	NM_019892.6(INPP5E):c.1468G>T:p.Asp490Tyr	coding	Pathogenic
9	136431998	G	A	G136431998A	INPP5E	NM_019892.6(INPP5E):c.1388-13C>T	noncoding	Benign
9	136432460	G	A	G136432460A	INPP5E	NM_019892.6(INPP5E):c.1387+19C>T	noncoding	Benign
9	136432507	G	A	G136432507A	INPP5E	NM_019892.6(INPP5E):c.1359C>T:p.Pro453=	coding	Benign
9	136432562	C	T	C136432562T	INPP5E	NM_019892.6(INPP5E):c.1304G>A:p.Arg435Gln	coding	Pathogenic
9	136432567	C	T	C136432567T	INPP5E	NM_019892.6(INPP5E):c.1299G>A:p.Ala433=	coding	Benign/Likely_benign
9	136432582	A	G	A136432582G	INPP5E	NM_019892.6(INPP5E):c.1284T>C:p.Gly428=	coding	Benign
9	136432610	G	A	G136432610A	INPP5E	NM_019892.6(INPP5E):c.1280-24C>T	noncoding	Benign
9	136432612	A	G	A136432612G	INPP5E	NM_019892.6(INPP5E):c.1280-26T>C	noncoding	Benign
9	136432702	C	T	C136432702T	INPP5E	NM_019892.6(INPP5E):c.1280-116G>A	noncoding	Benign
9	136432986	A	G	A136432986G	INPP5E	NM_019892.6(INPP5E):c.1249T>C:p.Ser417Pro	coding	Pathogenic
9	136432987	A	G	A136432987G	INPP5E	NM_019892.6(INPP5E):c.1248T>C:p.Thr416=	coding	Benign
9	136433073	C	A	C136433073A	INPP5E	NM_019892.6(INPP5E):c.1162G>T:p.Val388Leu	coding	Pathogenic
9	136433125	A	T	A136433125T	INPP5E	NM_019892.6(INPP5E):c.1159+30T>A	noncoding	Benign
9	136433129	G	A	G136433129A	INPP5E	NM_019892.6(INPP5E):c.1159+26C>T	noncoding	Benign
9	136433147	G	A	G136433147A	INPP5E	NM_019892.6(INPP5E):c.1159+8C>T	noncoding	Benign
9	136433160	C	T	C136433160T	INPP5E	NM_019892.6(INPP5E):c.1154G>A:p.Cys385Tyr	coding	Pathogenic
9	136433182	G	A	G136433182A	INPP5E	NM_019892.6(INPP5E):c.1132C>T:p.Arg378Cys	coding	Pathogenic/Likely_pathogenic
9	136433250	G	A	G136433250A	INPP5E	NM_019892.6(INPP5E):c.1064C>T:p.Thr355Met	coding	Pathogenic
9	136433917	T	C	T136433917C	INPP5E	NM_019892.6(INPP5E):c.1034+120A>G	noncoding	Benign
9	136434050	C	T	C136434050T	INPP5E	NM_019892.6(INPP5E):c.1021G>A:p.Gly341Ser	coding	Pathogenic
9	136434090	G	A	G136434090A	INPP5E	NM_019892.6(INPP5E):c.981C>T:p.Ala327=	coding	Benign
9	136434099	T	C	T136434099C	INPP5E	NM_019892.6(INPP5E):c.972A>G:p.Pro324=	coding	Benign
9	136434270	G	T	G136434270T	INPP5E	NM_019892.6(INPP5E):c.937-136C>A	noncoding	Benign
9	136434868	G	C	G136434868C	INPP5E	NM_019892.6(INPP5E):c.813-5C>G	noncoding	Benign/Likely_benign
9	136438629	C	T	C136438629T	INPP5E	NM_019892.6(INPP5E):c.791G>A:p.Arg264His	coding	Benign
9	136438784	G	T	G136438784T	INPP5E	NM_019892.6(INPP5E):c.636C>A:p.Val212=	coding	Benign
9	136438817	G	C	G136438817C	INPP5E	NM_019892.6(INPP5E):c.603C>G:p.Ile201Met	coding	Benign/Likely_benign
9	136438848	G	C	G136438848C	INPP5E	NM_019892.6(INPP5E):c.572C>G:p.Pro191Arg	coding	Benign/Likely_benign
9	136438889	G	T	G136438889T	INPP5E	NM_019892.6(INPP5E):c.531C>A:p.Ala177=	coding	Benign
9	136439300	G	A	G136439300A	INPP5E	NM_019892.6(INPP5E):c.120C>T:p.Pro40=	coding	Benign/Likely_benign
9	136439387	G	C	G136439387C	INPP5E	NM_019892.6(INPP5E):c.33C>G:p.Ser11=	coding	Benign
9	136439593	C	T	C136439593T	INPP5E	NM_019892.6(INPP5E):c.-174G>A	noncoding	Benign/Likely_benign
9	136441809	G	A	G136441809A	SEC16A	NM_014866.2(SEC16A):c.7020C>T:p.Ser2340=	coding	Benign
9	136447248	T	C	T136447248C	SEC16A	NM_014866.2(SEC16A):c.6676A>G:p.Asn2226Asp	coding	Benign
9	136451395	G	A	G136451395A	SEC16A	NM_014866.2(SEC16A):c.6173C>T:p.Thr2058Met	coding	Benign
9	136455756	G	A	G136455756A	SEC16A	NM_014866.2(SEC16A):c.5702C>T:p.Pro1901Leu	coding	Benign
9	136457591	C	T	C136457591T	SEC16A	NM_014866.2(SEC16A):c.5410-7G>A	noncoding	Benign
9	136459882	G	A	G136459882A	SEC16A	NM_014866.2(SEC16A):c.5074-8C>T	noncoding	Benign
9	136461169	G	A	G136461169A	SEC16A	NM_014866.2(SEC16A):c.4991+8C>T	noncoding	Benign
9	136466267	G	T	G136466267T	SEC16A	NM_014866.2(SEC16A):c.4125C>A:p.His1375Gln	coding	Benign
9	136466458	C	T	C136466458T	SEC16A	NM_014866.2(SEC16A):c.3934G>A:p.Glu1312Lys	coding	Benign
9	136474550	A	T	A136474550T	SEC16A	NM_014866.2(SEC16A):c.3066T>A:p.Ser1022Arg	coding	Benign
9	136474748	A	G	A136474748G	SEC16A	NM_014866.2(SEC16A):c.2868T>C:p.Asn956=	coding	Benign
9	136475486	G	C	G136475486C	SEC16A	NM_014866.2(SEC16A):c.2130C>G:p.Ala710=	coding	Benign
9	136476377	G	A	G136476377A	SEC16A	NM_014866.2(SEC16A):c.1239C>T:p.Pro413=	coding	Benign
9	136476438	C	T	C136476438T	SEC16A	NM_014866.2(SEC16A):c.1178G>A:p.Gly393Asp	coding	Benign
9	136476654	G	A	G136476654A	SEC16A	NM_014866.2(SEC16A):c.962C>T:p.Pro321Leu	coding	Benign
9	136476920	G	A	G136476920A	SEC16A	NM_014866.2(SEC16A):c.696C>T:p.Cys232=	coding	Benign
9	136477367	G	A	G136477367A	SEC16A	NM_014866.2(SEC16A):c.249C>T:p.Pro83=	coding	Benign
9	136496065	C	T	C136496065T	NOTCH1	NM_017617.5(NOTCH1):c.*6G>A	noncoding	Benign
9	136496203	C	T	C136496203T	NOTCH1	NM_017617.5(NOTCH1):c.7536G>A:p.Pro2512=	coding	Benign/Likely_benign
9	136496224	A	C	A136496224C	NOTCH1	NM_017617.5(NOTCH1):c.7515T>G:p.Pro2505=	coding	Benign
9	136496290	C	T	C136496290T	NOTCH1	NM_017617.5(NOTCH1):c.7449G>A:p.Thr2483=	coding	Benign/Likely_benign
9	136496349	G	A	G136496349A	NOTCH1	NM_017617.5(NOTCH1):c.7390C>T:p.Leu2464=	coding	Benign/Likely_benign
9	136496370	G	C	G136496370C	NOTCH1	NM_017617.5(NOTCH1):c.7369C>G:p.Leu2457Val	coding	Benign/Likely_benign
9	136496401	C	T	C136496401T	NOTCH1	NM_017617.5(NOTCH1):c.7338G>A:p.Leu2446=	coding	Benign/Likely_benign
9	136496450	C	G	C136496450G	NOTCH1	NM_017617.5(NOTCH1):c.7289G>C:p.Gly2430Ala	coding	Benign/Likely_benign
9	136496506	T	C	T136496506C	NOTCH1	NM_017617.5(NOTCH1):c.7233A>G:p.Pro2411=	coding	Benign
9	136496530	C	T	C136496530T	NOTCH1	NM_017617.5(NOTCH1):c.7209G>A:p.Gln2403=	coding	Benign
9	136496748	C	T	C136496748T	NOTCH1	NM_017617.5(NOTCH1):c.6991G>A:p.Ala2331Thr	coding	Benign
9	136496869	G	A	G136496869A	NOTCH1	NM_017617.5(NOTCH1):c.6870C>T:p.Ser2290=	coding	Benign/Likely_benign
9	136496886	C	T	C136496886T	NOTCH1	NM_017617.5(NOTCH1):c.6853G>A:p.Val2285Ile	coding	Benign
9	136496962	A	G	A136496962G	NOTCH1	NM_017617.5(NOTCH1):c.6777T>C:p.Gly2259=	coding	Benign
9	136497025	G	A	G136497025A	NOTCH1	NM_017617.5(NOTCH1):c.6714C>T:p.Pro2238=	coding	Benign
9	136497091	C	T	C136497091T	NOTCH1	NM_017617.5(NOTCH1):c.6648G>A:p.Pro2216=	coding	Benign
9	136497146	G	T	G136497146T	NOTCH1	NM_017617.5(NOTCH1):c.6593C>A:p.Ser2198Ter	coding	Pathogenic
9	136497184	G	A	G136497184A	NOTCH1	NM_017617.5(NOTCH1):c.6555C>T:p.Asp2185=	coding	Benign
9	136497285	C	G	C136497285G	NOTCH1	NM_017617.5(NOTCH1):c.6454G>C:p.Gly2152Arg	coding	Benign
9	136497286	G	A	G136497286A	NOTCH1	NM_017617.5(NOTCH1):c.6453C>T:p.Pro2151=	coding	Benign
9	136497310	G	A	G136497310A	NOTCH1	NM_017617.5(NOTCH1):c.6429C>T:p.Asn2143=	coding	Benign/Likely_benign
9	136497342	G	A	G136497342A	NOTCH1	NM_017617.5(NOTCH1):c.6397C>T:p.Pro2133Ser	coding	Benign/Likely_benign
9	136497343	C	G	C136497343G	NOTCH1	NM_017617.5(NOTCH1):c.6396G>C:p.Thr2132=	coding	Benign/Likely_benign
9	136497364	G	A	G136497364A	NOTCH1	NM_017617.5(NOTCH1):c.6375C>T:p.His2125=	coding	Benign/Likely_benign
9	136497376	G	A	G136497376A	NOTCH1	NM_017617.5(NOTCH1):c.6363C>T:p.Ser2121=	coding	Benign/Likely_benign
9	136497391	G	C	G136497391C	NOTCH1	NM_017617.5(NOTCH1):c.6348C>G:p.Tyr2116Ter	coding	Pathogenic
9	136497511	G	A	G136497511A	NOTCH1	NM_017617.5(NOTCH1):c.6228C>T:p.Thr2076=	coding	Benign/Likely_benign
9	136498615	C	T	C136498615T	NOTCH1	NM_017617.5(NOTCH1):c.6180+284G>A	noncoding	Benign
9	136498710	G	A	G136498710A	NOTCH1	NM_017617.5(NOTCH1):c.6180+189C>T	noncoding	Benign
9	136498959	A	G	A136498959G	NOTCH1	NM_017617.5(NOTCH1):c.6120T>C:p.Asn2040=	coding	Benign/Likely_benign
9	136498974	G	A	G136498974A	NOTCH1	NM_017617.5(NOTCH1):c.6105C>T:p.Ala2035=	coding	Benign/Likely_benign
9	136499206	C	T	C136499206T	NOTCH1	NM_017617.5(NOTCH1):c.5988G>A:p.Thr1996=	coding	Benign/Likely_benign
9	136499227	A	G	A136499227G	NOTCH1	NM_017617.5(NOTCH1):c.5967T>C:p.Asp1989=	coding	Benign/Likely_benign
9	136499244	G	A	G136499244A	NOTCH1	NM_017617.5(NOTCH1):c.5950C>T:p.Arg1984Ter	coding	Pathogenic
9	136499407	C	T	C136499407T	NOTCH1	NM_017617.5(NOTCH1):c.5935-148G>A	noncoding	Benign
9	136499468	C	T	C136499468T	NOTCH1	NM_017617.5(NOTCH1):c.5935-209G>A	noncoding	Benign
9	136500507	C	T	C136500507T	NOTCH1	NM_017617.5(NOTCH1):c.5934+45G>A	noncoding	Benign
9	136500807	G	A	G136500807A	NOTCH1	NM_017617.5(NOTCH1):c.5679C>T:p.Gly1893=	coding	Benign
9	136500813	G	A	G136500813A	NOTCH1	NM_017617.5(NOTCH1):c.5673C>T:p.Ser1891=	coding	Benign/Likely_benign
9	136500859	G	A	G136500859A	NOTCH1	NM_017617.5(NOTCH1):c.5639-12C>T	noncoding	Benign
9	136501021	C	T	C136501021T	NOTCH1	NM_017617.5(NOTCH1):c.5639-174G>A	noncoding	Benign
9	136501818	A	G	A136501818G	NOTCH1	NM_017617.5(NOTCH1):c.5568T>C:p.Ser1856=	coding	Benign
9	136501886	G	A	G136501886A	NOTCH1	NM_017617.5(NOTCH1):c.5500C>T:p.Leu1834=	coding	Benign/Likely_benign
9	136501956	A	G	A136501956G	NOTCH1	NM_017617.5(NOTCH1):c.5473-43T>C	noncoding	Benign
9	136502028	G	A	G136502028A	NOTCH1	NM_017617.5(NOTCH1):c.5445C>T:p.Asp1815=	coding	Benign/Likely_benign
9	136502158	G	A	G136502158A	NOTCH1	NM_017617.5(NOTCH1):c.5385-70C>T	noncoding	Benign
9	136502259	G	A	G136502259A	NOTCH1	NM_017617.5(NOTCH1):c.5384+13C>T	noncoding	Benign
9	136502430	G	A	G136502430A	NOTCH1	NM_017617.5(NOTCH1):c.5226C>T:p.Ala1742=	coding	Benign
9	136502481	G	A	G136502481A	NOTCH1	NM_017617.5(NOTCH1):c.5175C>T:p.Thr1725=	coding	Benign/Likely_benign
9	136502498	C	T	C136502498T	NOTCH1	NM_017617.5(NOTCH1):c.5168-10G>A	noncoding	Benign
9	136502974	G	A	G136502974A	NOTCH1	NM_017617.5(NOTCH1):c.5167+208C>T	noncoding	Benign
9	136502993	G	T	G136502993T	NOTCH1	NM_017617.5(NOTCH1):c.5167+189C>A	noncoding	Benign
9	136503225	C	A	C136503225A	NOTCH1	NM_017617.5(NOTCH1):c.5124G>T:p.Ser1708=	coding	Benign/Likely_benign
9	136503255	G	A	G136503255A	NOTCH1	NM_017617.5(NOTCH1):c.5094C>T:p.Asp1698=	coding	Benign
9	136503276	C	T	C136503276T	NOTCH1	NM_017617.5(NOTCH1):c.5073G>A:p.Gln1691=	coding	Benign/Likely_benign
9	136503343	T	C	T136503343C	NOTCH1	NM_017617.5(NOTCH1):c.5019-13A>G	noncoding	Benign
9	136504680	C	T	C136504680T	NOTCH1	NM_017617.5(NOTCH1):c.5011G>A:p.Val1671Ile	coding	Benign/Likely_benign
9	136504804	G	A	G136504804A	NOTCH1	NM_017617.5(NOTCH1):c.4887C>T:p.His1629=	coding	Benign/Likely_benign
9	136504864	G	A	G136504864A	NOTCH1	NM_017617.5(NOTCH1):c.4827C>T:p.Asp1609=	coding	Benign/Likely_benign
9	136504868	C	T	C136504868T	NOTCH1	NM_017617.5(NOTCH1):c.4823G>A:p.Arg1608His	coding	Benign
9	136504916	A	C	A136504916C	NOTCH1	NM_017617.5(NOTCH1):c.4775T>G:p.Phe1592Cys	coding	Pathogenic
9	136505028	C	A	C136505028A	NOTCH1	NM_017617.5(NOTCH1):c.4663G>T:p.Glu1555Ter	coding	Pathogenic
9	136505038	G	A	G136505038A	NOTCH1	NM_017617.5(NOTCH1):c.4653C>T:p.Ser1551=	coding	Benign
9	136505065	G	A	G136505065A	NOTCH1	NM_017617.5(NOTCH1):c.4626C>T:p.Asp1542=	coding	Benign/Likely_benign
9	136505348	G	A	G136505348A	NOTCH1	NM_017617.5(NOTCH1):c.4548C>T:p.Phe1516=	coding	Benign/Likely_benign
9	136505360	G	A	G136505360A	NOTCH1	NM_017617.5(NOTCH1):c.4536C>T:p.Ala1512=	coding	Benign
9	136505409	C	T	C136505409T	NOTCH1	NM_017617.5(NOTCH1):c.4487G>A:p.Cys1496Tyr	coding	Pathogenic
9	136505489	G	A	G136505489A	NOTCH1	NM_017617.5(NOTCH1):c.4407C>T:p.Asn1469=	coding	Benign/Likely_benign
9	136505606	G	A	G136505606A	NOTCH1	NM_017617.5(NOTCH1):c.4290C>T:p.Tyr1430=	coding	Benign
9	136505674	C	A	C136505674A	NOTCH1	NM_017617.5(NOTCH1):c.4222G>T:p.Glu1408Ter	coding	Pathogenic
9	136505767	G	A	G136505767A	NOTCH1	NM_017617.5(NOTCH1):c.4129C>T:p.Pro1377Ser	coding	Benign
9	136505801	G	A	G136505801A	NOTCH1	NM_017617.5(NOTCH1):c.4095C>T:p.Ser1365=	coding	Benign
9	136505825	G	T	G136505825T	NOTCH1	NM_017617.5(NOTCH1):c.4071C>A:p.Cys1357Ter	coding	Pathogenic
9	136505840	G	A	G136505840A	NOTCH1	NM_017617.5(NOTCH1):c.4056C>T:p.Cys1352=	coding	Benign/Likely_benign
9	136505868	G	A	G136505868A	NOTCH1	NM_017617.5(NOTCH1):c.4028C>T:p.Ala1343Val	coding	Benign/Likely_benign
9	136505954	C	T	C136505954T	NOTCH1	NM_017617.5(NOTCH1):c.4015-73G>A	noncoding	Benign
9	136506452	C	T	C136506452T	NOTCH1	NM_017617.5(NOTCH1):c.4014+75G>A	noncoding	Benign
9	136506713	C	T	C136506713T	NOTCH1	NM_017617.5(NOTCH1):c.3901+3G>A	noncoding	Benign/Likely_benign
9	136506765	G	A	G136506765A	NOTCH1	NM_017617.5(NOTCH1):c.3852C>T:p.Cys1284=	coding	Benign/Likely_benign
9	136506781	C	T	C136506781T	NOTCH1	NM_017617.5(NOTCH1):c.3836G>A:p.Arg1279His	coding	Benign
9	136506786	G	A	G136506786A	NOTCH1	NM_017617.5(NOTCH1):c.3831C>T:p.Asp1277=	coding	Benign/Likely_benign
9	136506837	C	G	C136506837G	NOTCH1	NM_017617.5(NOTCH1):c.3780G>C:p.Val1260=	coding	Benign
9	136506850	G	A	G136506850A	NOTCH1	NM_017617.5(NOTCH1):c.3767C>T:p.Pro1256Leu	coding	Benign/Likely_benign
9	136506852	G	T	G136506852T	NOTCH1	NM_017617.5(NOTCH1):c.3765C>A:p.Cys1255Ter	coding	Pathogenic
9	136507052	G	A	G136507052A	NOTCH1	NM_017617.5(NOTCH1):c.3644-79C>T	noncoding	Benign
9	136507125	C	G	C136507125G	NOTCH1	NM_017617.5(NOTCH1):c.3644-152G>C	noncoding	Benign
9	136507447	C	T	C136507447T	NOTCH1	NM_017617.5(NOTCH1):c.3511-10G>A	noncoding	Benign
9	136508064	T	C	T136508064C	NOTCH1	NM_017617.5(NOTCH1):c.3401A>G:p.Gln1134Arg	coding	Benign
9	136508081	C	T	C136508081T	NOTCH1	NM_017617.5(NOTCH1):c.3384G>A:p.Thr1128=	coding	Benign/Likely_benign
9	136508132	G	A	G136508132A	NOTCH1	NM_017617.5(NOTCH1):c.3333C>T:p.Asp1111=	coding	Benign/Likely_benign
9	136508211	T	C	T136508211C	NOTCH1	NM_017617.5(NOTCH1):c.3325+21A>G	noncoding	Benign
9	136508238	G	A	G136508238A	NOTCH1	NM_017617.5(NOTCH1):c.3319C>T:p.Arg1107Ter	coding	Pathogenic
9	136508242	C	A	C136508242A	NOTCH1	NM_017617.5(NOTCH1):c.3315G>T:p.Ala1105=	coding	Benign
9	136508263	G	A	G136508263A	NOTCH1	NM_017617.5(NOTCH1):c.3294C>T:p.Ser1098=	coding	Benign/Likely_benign
9	136508276	C	T	C136508276T	NOTCH1	NM_017617.5(NOTCH1):c.3281G>A:p.Cys1094Tyr	coding	Pathogenic
9	136508291	C	T	C136508291T	NOTCH1	NM_017617.5(NOTCH1):c.3266G>A:p.Trp1089Ter	coding	Pathogenic
9	136508308	G	A	G136508308A	NOTCH1	NM_017617.5(NOTCH1):c.3249C>T:p.Cys1083=	coding	Benign
9	136508456	T	C	T136508456C	NOTCH1	NM_017617.5(NOTCH1):c.3172-71A>G	noncoding	Benign
9	136508507	A	G	A136508507G	NOTCH1	NM_017617.5(NOTCH1):c.3172-122T>C	noncoding	Benign
9	136508650	T	C	T136508650C	NOTCH1	NM_017617.5(NOTCH1):c.3171+220A>G	noncoding	Benign
9	136508816	T	C	T136508816C	NOTCH1	NM_017617.5(NOTCH1):c.3171+54A>G	noncoding	Benign
9	136508926	C	T	C136508926T	NOTCH1	NM_017617.5(NOTCH1):c.3115G>A:p.Gly1039Ser	coding	Benign/Likely_benign
9	136508999	C	T	C136508999T	NOTCH1	NM_017617.5(NOTCH1):c.3042G>A:p.Thr1014=	coding	Benign/Likely_benign
9	136509059	G	A	G136509059A	NOTCH1	NM_017617.5(NOTCH1):c.2982C>T:p.Asn994=	coding	Benign/Likely_benign
9	136509102	T	C	T136509102C	NOTCH1	NM_017617.5(NOTCH1):c.2970-31A>G	noncoding	Benign
9	136509720	G	A	G136509720A	NOTCH1	NM_017617.5(NOTCH1):c.2969+13C>T	noncoding	Benign
9	136509889	C	T	C136509889T	NOTCH1	NM_017617.5(NOTCH1):c.2813G>A:p.Arg938Gln	coding	Benign
9	136509909	G	A	G136509909A	NOTCH1	NM_017617.5(NOTCH1):c.2793C>T:p.Cys931=	coding	Benign/Likely_benign
9	136509933	T	C	T136509933C	NOTCH1	NM_017617.5(NOTCH1):c.2769A>G:p.Thr923=	coding	Benign
9	136510641	G	A	G136510641A	NOTCH1	NM_017617.5(NOTCH1):c.2740+12C>T	noncoding	Benign
9	136510689	G	A	G136510689A	NOTCH1	NM_017617.5(NOTCH1):c.2704C>T:p.Arg902Cys	coding	Pathogenic
9	136510702	G	A	G136510702A	NOTCH1	NM_017617.5(NOTCH1):c.2691C>T:p.Ala897=	coding	Benign
9	136510729	G	A	G136510729A	NOTCH1	NM_017617.5(NOTCH1):c.2664C>T:p.His888=	coding	Benign
9	136510747	T	A	T136510747A	NOTCH1	NM_017617.5(NOTCH1):c.2646A>T:p.Ala882=	coding	Benign/Likely_benign
9	136510789	G	A	G136510789A	NOTCH1	NM_017617.5(NOTCH1):c.2604C>T:p.Val868=	coding	Benign/Likely_benign
9	136510809	C	T	C136510809T	NOTCH1	NM_017617.5(NOTCH1):c.2588-4G>A	noncoding	Benign
9	136510909	A	G	A136510909G	NOTCH1	NM_017617.5(NOTCH1):c.2588-104T>C	noncoding	Benign
9	136511049	A	G	A136511049G	NOTCH1	NM_017617.5(NOTCH1):c.2587+103T>C	noncoding	Benign
9	136511132	C	T	C136511132T	NOTCH1	NM_017617.5(NOTCH1):c.2587+20G>A	noncoding	Benign
9	136511197	C	T	C136511197T	NOTCH1	NM_017617.5(NOTCH1):c.2542G>A:p.Glu848Lys	coding	Benign/Likely_benign
9	136511234	G	T	G136511234T	NOTCH1	NM_017617.5(NOTCH1):c.2505C>A:p.Pro835=	coding	Benign/Likely_benign
9	136511243	C	A	C136511243A	NOTCH1	NM_017617.5(NOTCH1):c.2496G>T:p.Pro832=	coding	Benign/Likely_benign
9	136511290	C	T	C136511290T	NOTCH1	NM_017617.5(NOTCH1):c.2468-19G>A	noncoding	Benign
9	136512987	G	C	G136512987C	NOTCH1	NM_017617.5(NOTCH1):c.2467+34C>G	noncoding	Benign
9	136513000	C	T	C136513000T	NOTCH1	NM_017617.5(NOTCH1):c.2467+21G>A	noncoding	Benign
9	136513046	C	T	C136513046T	NOTCH1	NM_017617.5(NOTCH1):c.2442G>A:p.Lys814=	coding	Benign/Likely_benign
9	136513049	G	C	G136513049C	NOTCH1	NM_017617.5(NOTCH1):c.2439C>G:p.Tyr813Ter	coding	Pathogenic
9	136513108	C	A	C136513108A	NOTCH1	NM_017617.5(NOTCH1):c.2380G>T:p.Glu794Ter	coding	Pathogenic
9	136513123	G	A	G136513123A	NOTCH1	NM_017617.5(NOTCH1):c.2365C>T:p.Gln789Ter	coding	Pathogenic
9	136513420	G	A	G136513420A	NOTCH1	NM_017617.5(NOTCH1):c.2325C>T:p.Tyr775=	coding	Benign
9	136513480	A	G	A136513480G	NOTCH1	NM_017617.5(NOTCH1):c.2265T>C:p.Asn755=	coding	Benign
9	136514440	C	T	C136514440T	NOTCH1	NM_017617.5(NOTCH1):c.2207+70G>A	noncoding	Benign
9	136514500	C	T	C136514500T	NOTCH1	NM_017617.5(NOTCH1):c.2207+10G>A	noncoding	Benign/Likely_benign
9	136514503	C	T	C136514503T	NOTCH1	NM_017617.5(NOTCH1):c.2207+7G>A	noncoding	Benign
9	136514512	G	A	G136514512A	NOTCH1	NM_017617.5(NOTCH1):c.2205C>T:p.Asn735=	coding	Benign
9	136514581	G	T	G136514581T	NOTCH1	NM_017617.5(NOTCH1):c.2136C>A:p.Thr712=	coding	Benign/Likely_benign
9	136514593	G	A	G136514593A	NOTCH1	NM_017617.5(NOTCH1):c.2124C>T:p.Tyr708=	coding	Benign/Likely_benign
9	136514668	C	T	C136514668T	NOTCH1	NM_017617.5(NOTCH1):c.2049G>A:p.Ala683=	coding	Benign/Likely_benign
9	136515342	G	A	G136515342A	NOTCH1	NM_017617.5(NOTCH1):c.1962C>T:p.Thr654=	coding	Benign/Likely_benign
9	136515517	G	A	G136515517A	NOTCH1	NM_017617.5(NOTCH1):c.1869C>T:p.Asn623=	coding	Benign/Likely_benign
9	136515725	T	C	T136515725C	NOTCH1	NM_017617.5(NOTCH1):c.1670-9A>G	noncoding	Benign
9	136515968	C	T	C136515968T	NOTCH1	NM_017617.5(NOTCH1):c.1669+13G>A	noncoding	Benign/Likely_benign
9	136515972	A	G	A136515972G	NOTCH1	NM_017617.5(NOTCH1):c.1669+9T>C	noncoding	Benign
9	136515985	C	T	C136515985T	NOTCH1	NM_017617.5(NOTCH1):c.1665G>A:p.Thr555=	coding	Benign
9	136516000	G	A	G136516000A	NOTCH1	NM_017617.5(NOTCH1):c.1650C>T:p.Tyr550=	coding	Benign/Likely_benign
9	136516015	G	A	G136516015A	NOTCH1	NM_017617.5(NOTCH1):c.1635C>T:p.Asp545=	coding	Benign
9	136516083	G	A	G136516083A	NOTCH1	NM_017617.5(NOTCH1):c.1567C>T:p.His523Tyr	coding	Benign/Likely_benign
9	136516103	G	A	G136516103A	NOTCH1	NM_017617.5(NOTCH1):c.1556-9C>T	noncoding	Benign/Likely_benign
9	136516137	A	G	A136516137G	NOTCH1	NM_017617.5(NOTCH1):c.1556-43T>C	noncoding	Benign
9	136516227	T	C	T136516227C	NOTCH1	NM_017617.5(NOTCH1):c.1556-133A>G	noncoding	Benign
9	136517000	G	A	G136517000A	NOTCH1	NM_017617.5(NOTCH1):c.1555+272C>T	noncoding	Benign
9	136517027	G	A	G136517027A	NOTCH1	NM_017617.5(NOTCH1):c.1555+245C>T	noncoding	Benign
9	136517170	G	A	G136517170A	NOTCH1	NM_017617.5(NOTCH1):c.1555+102C>T	noncoding	Benign
9	136517262	T	C	T136517262C	NOTCH1	NM_017617.5(NOTCH1):c.1555+10A>G	noncoding	Benign
9	136517428	G	A	G136517428A	NOTCH1	NM_017617.5(NOTCH1):c.1442-43C>T	noncoding	Benign
9	136517621	T	C	T136517621C	NOTCH1	NM_017617.5(NOTCH1):c.1441+131A>G	noncoding	Benign
9	136517745	G	A	G136517745A	NOTCH1	NM_017617.5(NOTCH1):c.1441+7C>T	noncoding	Benign
9	136517850	C	T	C136517850T	NOTCH1	NM_017617.5(NOTCH1):c.1343G>A:p.Arg448Gln	coding	Pathogenic
9	136517851	G	A	G136517851A	NOTCH1	NM_017617.5(NOTCH1):c.1342C>T:p.Arg448Ter	coding	Pathogenic/Likely_pathogenic
9	136517908	A	G	A136517908G	NOTCH1	NM_017617.5(NOTCH1):c.1285T>C:p.Cys429Arg	coding	Pathogenic/Likely_pathogenic
9	136518246	G	A	G136518246A	NOTCH1	NM_017617.5(NOTCH1):c.1146C>T:p.Asn382=	coding	Benign/Likely_benign
9	136518270	G	A	G136518270A	NOTCH1	NM_017617.5(NOTCH1):c.1122C>T:p.Asp374=	coding	Benign/Likely_benign
9	136518308	C	G	C136518308G	NOTCH1	NM_017617.5(NOTCH1):c.1100-16G>C	noncoding	Benign
9	136518377	A	G	A136518377G	NOTCH1	NM_017617.5(NOTCH1):c.1100-85T>C	noncoding	Benign
9	136518432	C	T	C136518432T	NOTCH1	NM_017617.5(NOTCH1):c.1100-140G>A	noncoding	Benign
9	136518645	T	G	T136518645G	NOTCH1	NM_017617.5(NOTCH1):c.1045A>C:p.Thr349Pro	coding	Benign/Likely_benign
9	136518652	G	A	G136518652A	NOTCH1	NM_017617.5(NOTCH1):c.1038C>T:p.His346=	coding	Benign/Likely_benign
9	136518817	G	A	G136518817A	NOTCH1	NM_017617.5(NOTCH1):c.873C>T:p.Tyr291=	coding	Benign
9	136519081	C	T	C136519081T	NOTCH1	NM_017617.5(NOTCH1):c.866-257G>A	noncoding	Benign
9	136519087	C	T	C136519087T	NOTCH1	NM_017617.5(NOTCH1):c.866-263G>A	noncoding	Benign
9	136519440	C	T	C136519440T	NOTCH1	NM_017617.5(NOTCH1):c.865+3G>A	noncoding	Benign
9	136519456	C	T	C136519456T	NOTCH1	NM_017617.5(NOTCH1):c.852G>A:p.Pro284=	coding	Benign
9	136519504	G	A	G136519504A	NOTCH1	NM_017617.5(NOTCH1):c.804C>T:p.Asn268=	coding	Benign
9	136519566	C	A	C136519566A	NOTCH1	NM_017617.5(NOTCH1):c.743-1G>T	coding	Pathogenic/Likely_pathogenic
9	136522881	G	A	G136522881A	NOTCH1	NM_017617.5(NOTCH1):c.711C>T:p.Gly237=	coding	Benign
9	136522929	G	A	G136522929A	NOTCH1	NM_017617.5(NOTCH1):c.663C>T:p.Pro221=	coding	Benign
9	136523012	T	G	T136523012G	NOTCH1	NM_017617.5(NOTCH1):c.580A>C:p.Thr194Pro	coding	Benign/Likely_benign
9	136523014	C	T	C136523014T	NOTCH1	NM_017617.5(NOTCH1):c.578G>A:p.Gly193Asp	coding	Pathogenic
9	136523042	G	A	G136523042A	NOTCH1	NM_017617.5(NOTCH1):c.550C>T:p.Gln184Ter	coding	Pathogenic
9	136523160	G	A	G136523160A	NOTCH1	NM_017617.5(NOTCH1):c.432C>T:p.Cys144=	coding	Benign/Likely_benign
9	136523177	G	A	G136523177A	NOTCH1	NM_017617.5(NOTCH1):c.415C>T:p.Gln139Ter	coding	Pathogenic
9	136523752	G	A	G136523752A	NOTCH1	NM_017617.5(NOTCH1):c.368C>T:p.Thr123Met	coding	Benign/Likely_benign
9	136523808	A	G	A136523808G	NOTCH1	NM_017617.5(NOTCH1):c.312T>C:p.Asn104=	coding	Benign
9	136523809	T	C	T136523809C	NOTCH1	NM_017617.5(NOTCH1):c.311A>G:p.Asn104Ser	coding	Benign/Likely_benign
9	136523857	C	T	C136523857T	NOTCH1	NM_017617.5(NOTCH1):c.263G>A:p.Ser88Asn	coding	Benign/Likely_benign
9	136523934	C	G	C136523934G	NOTCH1	NM_017617.5(NOTCH1):c.186G>C:p.Pro62=	coding	Benign/Likely_benign
9	136523954	G	A	G136523954A	NOTCH1	NM_017617.5(NOTCH1):c.166C>T:p.Arg56Ter	coding	Pathogenic
9	136523955	C	T	C136523955T	NOTCH1	NM_017617.5(NOTCH1):c.165G>A:p.Pro55=	coding	Benign/Likely_benign
9	136523964	G	A	G136523964A	NOTCH1	NM_017617.5(NOTCH1):c.156C>T:p.Phe52=	coding	Benign/Likely_benign
9	136524209	A	G	A136524209G	NOTCH1	NM_017617.5(NOTCH1):c.141-230T>C	noncoding	Benign
9	136544100	G	A	G136544100A	NOTCH1	NM_017617.5(NOTCH1):c.64C>T:p.Pro22Ser	coding	Benign/Likely_benign
9	136544110	G	A	G136544110A	NOTCH1	NM_017617.5(NOTCH1):c.62-8C>T	noncoding	Benign
9	136545938	A	G	A136545938G	NOTCH1	NM_017617.5(NOTCH1):c.-152T>C	noncoding	Benign
9	136669935	G	A	G136669935A	EGFL7	NM_016215.5(EGFL7):c.335G>A:p.Arg112Gln	coding	Benign
9	136669940	G	A	G136669940A	EGFL7	NM_016215.5(EGFL7):c.340G>A:p.Gly114Arg	coding	Benign
9	136672096	C	A	C136672096A	EGFL7	NM_016215.5(EGFL7):c.799+8C>A	noncoding	Benign
9	136673217	G	A	G136673217A	AGPAT2	NM_006412.4(AGPAT2):c.*535C>T	noncoding	Benign
9	136673235	G	A	G136673235A	AGPAT2	NM_006412.4(AGPAT2):c.*517C>T	noncoding	Benign
9	136673310	G	C	G136673310C	AGPAT2	NM_006412.4(AGPAT2):c.*442C>G	noncoding	Benign
9	136673513	C	T	C136673513T	AGPAT2	NM_006412.4(AGPAT2):c.*239G>A	noncoding	Benign
9	136673595	G	A	G136673595A	AGPAT2	NM_006412.4(AGPAT2):c.*157C>T	noncoding	Benign
9	136673673	G	C	G136673673C	AGPAT2	NM_006412.4(AGPAT2):c.*79C>G	noncoding	Benign
9	136673848	G	A	G136673848A	AGPAT2	NM_006412.4(AGPAT2):c.741C>T:p.Thr247=	coding	Benign
9	136673873	G	A	G136673873A	AGPAT2	NM_006412.4(AGPAT2):c.716C>T:p.Ala239Val	coding	Benign/Likely_benign
9	136673876	G	C	G136673876C	AGPAT2	NM_006412.4(AGPAT2):c.713C>G:p.Ala238Gly	coding	Pathogenic
9	136673887	G	A	G136673887A	AGPAT2	NM_006412.4(AGPAT2):c.702C>T:p.Ser234=	coding	Benign
9	136673906	A	G	A136673906G	AGPAT2	NM_006412.4(AGPAT2):c.683T>C:p.Leu228Pro	coding	Pathogenic
9	136673913	G	A	G136673913A	AGPAT2	NM_006412.4(AGPAT2):c.676C>T:p.Gln226Ter	coding	Pathogenic
9	136673929	T	G	T136673929G	AGPAT2	NM_006412.4(AGPAT2):c.662-2A>C	noncoding	Pathogenic
9	136674733	A	C	A136674733C	AGPAT2	NM_006412.4(AGPAT2):c.661+2T>G	noncoding	Pathogenic
9	136674753	T	A	T136674753A	AGPAT2	NM_006412.4(AGPAT2):c.643A>T:p.Lys215Ter	coding	Pathogenic
9	136674809	T	C	T136674809C	AGPAT2	NM_006412.4(AGPAT2):c.589-2A>G	noncoding	Pathogenic
9	136676603	G	T	G136676603T	AGPAT2	NM_006412.4(AGPAT2):c.570C>A:p.Tyr190Ter	coding	Pathogenic
9	136676670	C	T	C136676670T	AGPAT2	NM_006412.4(AGPAT2):c.503G>A:p.Trp168Ter	coding	Pathogenic
9	136676681	C	G	C136676681G	AGPAT2	NM_006412.4(AGPAT2):c.493-1G>C	coding	Pathogenic
9	136676960	C	T	C136676960T	AGPAT2	NM_006412.4(AGPAT2):c.492+1G>A	noncoding	Pathogenic
9	136676978	G	A	G136676978A	AGPAT2	NM_006412.4(AGPAT2):c.475C>T:p.Arg159Cys	coding	Benign
9	136677047	C	T	C136677047T	AGPAT2	NM_006412.4(AGPAT2):c.406G>A:p.Gly136Arg	coding	Pathogenic
9	136677108	G	A	G136677108A	AGPAT2	NM_006412.4(AGPAT2):c.345C>T:p.Cys115=	coding	Benign/Likely_benign
9	136677113	G	A	G136677113A	AGPAT2	NM_006412.4(AGPAT2):c.340C>T:p.Arg114Cys	coding	Benign/Likely_benign
9	136677143	G	A	G136677143A	AGPAT2	NM_006412.4(AGPAT2):c.317-7C>T	noncoding	Benign
9	136677440	C	T	C136677440T	AGPAT2	NM_006412.4(AGPAT2):c.299G>A:p.Ser100Asn	coding	Pathogenic
9	136677466	G	C	G136677466C	AGPAT2	NM_006412.4(AGPAT2):c.273C>G:p.Pro91=	coding	Benign
9	136677537	G	A	G136677537A	AGPAT2	NM_006412.4(AGPAT2):c.202C>T:p.Arg68Ter	coding	Pathogenic
9	136677545	C	T	C136677545T	AGPAT2	NM_006412.4(AGPAT2):c.194G>A:p.Trp65Ter	coding	Pathogenic
9	136677550	G	A	G136677550A	AGPAT2	NM_006412.4(AGPAT2):c.189C>T:p.Ile63=	coding	Benign/Likely_benign
9	136677558	T	C	T136677558C	AGPAT2	NM_006412.4(AGPAT2):c.183-2A>G	noncoding	Pathogenic
9	136687168	G	A	G136687168A	AGPAT2	NM_006412.4(AGPAT2):c.182+8C>T	noncoding	Benign/Likely_benign
9	136687170	C	T	C136687170T	AGPAT2	NM_006412.4(AGPAT2):c.182+6G>A	noncoding	Benign/Likely_benign
9	136687175	C	T	C136687175T	AGPAT2	NM_006412.4(AGPAT2):c.182+1G>A	noncoding	Pathogenic
9	136687424	C	G	C136687424G	AGPAT2	NM_006412.4(AGPAT2):c.-67G>C	noncoding	Benign
9	136740835	C	T	C136740835T	LCN10	NM_001001712.3(LCN10):c.475+1G>A	noncoding	Benign
9	136745261	G	C	G136745261C	LCN6	NM_198946.3(LCN6):c.321C>G:p.Leu107=	coding	Benign
9	136747481	C	T	C136747481T	LCN6	NM_198946.3(LCN6):c.173G>A:p.Gly58Glu	coding	Benign
9	136835855	C	G	C136835855G	RABL6	NM_024718.5(RABL6):c.809+10C>G	noncoding	Benign
9	136837375	G	A	G136837375A	RABL6	NM_024718.5(RABL6):c.839G>A:p.Arg280His	coding	Benign
9	136837971	C	T	C136837971T	RABL6	NM_024718.5(RABL6):c.1236C>T:p.Asp412=	coding	Benign
9	136839038	G	T	G136839038T	RABL6	NM_024718.5(RABL6):c.1410G>T:p.Ser470=	coding	Benign
9	136839281	C	T	C136839281T	RABL6	NM_024718.5(RABL6):c.1553C>T:p.Pro518Leu	coding	Benign
9	136839326	G	A	G136839326A	RABL6	NM_024718.5(RABL6):c.1598G>A:p.Arg533His	coding	Benign
9	136839345	T	C	T136839345C	RABL6	NM_024718.5(RABL6):c.1617T>C:p.Pro539=	coding	Benign
9	136839399	C	T	C136839399T	RABL6	NM_024718.5(RABL6):c.1671C>T:p.Pro557=	coding	Benign
9	136849438	T	C	T136849438C	PHPT1	NM_014172.6(PHPT1):c.8T>C:p.Val3Ala	coding	Benign
9	136899648	C	T	C136899648T	TRAF2	NM_021138.4(TRAF2):c.243C>T:p.Gly81=	coding	Benign
9	136920479	G	T	G136920479T	TRAF2	NM_021138.4(TRAF2):c.924G>T:p.Arg308=	coding	Benign
9	136921160	C	T	C136921160T	TRAF2	NM_021138.4(TRAF2):c.1083C>T:p.Phe361=	coding	Benign
9	136941388	C	T	C136941388T	FBXW5	NM_018998.4(FBXW5):c.1320G>A:p.Ala440=	coding	Benign
9	136942125	G	A	G136942125A	FBXW5	NM_018998.4(FBXW5):c.1017C>T:p.Pro339=	coding	Benign
9	136942917	C	T	C136942917T	FBXW5	NM_018998.4(FBXW5):c.378G>A:p.Ser126=	coding	Benign
9	136945701	G	A	G136945701A	C8G	NM_000606.3(C8G):c.206G>A:p.Arg69Gln	coding	Benign
9	136978984	T	C	T136978984C	PTGDS	NM_000954.6(PTGDS):c.115-9T>C	noncoding	Benign
9	136978985	C	T	C136978985T	PTGDS	NM_000954.6(PTGDS):c.115-8C>T	noncoding	Benign
9	136980066	C	T	C136980066T	PTGDS	NM_000954.6(PTGDS):c.448+4C>T	noncoding	Benign
9	136980846	G	A	G136980846A	PTGDS	NM_000954.6(PTGDS):c.564G>A:p.Thr188=	coding	Benign
9	137008875	G	A	G137008875A	ABCA2	NM_001606.5(ABCA2):c.6931-7C>T	noncoding	Benign
9	137011080	C	A	C137011080A	ABCA2	NM_001606.5(ABCA2):c.5949G>T:p.Pro1983=	coding	Benign
9	137011452	G	A	G137011452A	ABCA2	NM_001606.5(ABCA2):c.5754C>T:p.Thr1918=	coding	Benign
9	137011564	G	A	G137011564A	ABCA2	NM_001606.5(ABCA2):c.5652-10C>T	noncoding	Benign
9	137011949	G	A	G137011949A	ABCA2	NM_001606.5(ABCA2):c.5430C>T:p.Phe1810=	coding	Benign
9	137014012	C	A	C137014012A	ABCA2	NM_001606.5(ABCA2):c.4267G>T:p.Val1423Phe	coding	Benign
9	137014683	C	T	C137014683T	ABCA2	NM_001606.5(ABCA2):c.4003+7G>A	noncoding	Benign
9	137015045	G	A	G137015045A	ABCA2	NM_001606.5(ABCA2):c.3750C>T:p.Ser1250=	coding	Benign
9	137015466	G	A	G137015466A	ABCA2	NM_001606.5(ABCA2):c.3645C>T:p.Asp1215=	coding	Benign
9	137015559	C	T	C137015559T	ABCA2	NM_001606.5(ABCA2):c.3552G>A:p.Glu1184=	coding	Benign
9	137016320	G	A	G137016320A	ABCA2	NM_001606.5(ABCA2):c.3075C>T:p.Gly1025=	coding	Benign
9	137017186	C	T	C137017186T	ABCA2	NM_001606.5(ABCA2):c.2553+10G>A	noncoding	Benign
9	137018218	G	A	G137018218A	ABCA2	NM_001606.5(ABCA2):c.1953C>T:p.Gly651=	coding	Benign
9	137020684	G	A	G137020684A	ABCA2	NM_001606.5(ABCA2):c.1265+10C>T	noncoding	Benign
9	137020696	G	A	G137020696A	ABCA2	NM_001606.5(ABCA2):c.1263C>T:p.Asn421=	coding	Benign
9	137020764	G	A	G137020764A	ABCA2	NM_001606.5(ABCA2):c.1195C>T:p.Leu399=	coding	Benign
9	137020868	G	A	G137020868A	ABCA2	NM_001606.5(ABCA2):c.1091C>T:p.Ala364Val	coding	Benign
9	137021022	G	A	G137021022A	ABCA2	NM_001606.5(ABCA2):c.937C>T:p.Gln313Ter	coding	Pathogenic
9	137028872	T	C	T137028872C	ABCA2	NM_212533.3(ABCA2):c.1A>G:p.Met1Val	coding	Benign
9	137030769	A	G	A137030769G	FUT7	NM_004479.4(FUT7):c.970T>C:p.Tyr324His	coding	Benign
9	137030994	C	T	C137030994T	FUT7	NM_004479.4(FUT7):c.745G>A:p.Gly249Ser	coding	Benign
9	137048707	C	T	C137048707T	ENTPD2	NM_203468.3(ENTPD2):c.1438G>A:p.Val480Ile	coding	Benign
9	137050284	C	G	C137050284G	ENTPD2	NM_203468.3(ENTPD2):c.1029G>C:p.Val343=	coding	Benign
9	137050962	G	A	G137050962A	ENTPD2	NM_203468.3(ENTPD2):c.714C>T:p.His238=	coding	Benign
9	137051098	C	T	C137051098T	ENTPD2	NM_203468.3(ENTPD2):c.578G>A:p.Arg193Gln	coding	Benign
9	137087171	G	T	G137087171T	MAN1B1	NM_016219.5(MAN1B1):c.172G>T:p.Glu58Ter	coding	Pathogenic
9	137087175	A	G	A137087175G	MAN1B1	NM_016219.5(MAN1B1):c.176A>G:p.Asn59Ser	coding	Benign
9	137087182	C	T	C137087182T	MAN1B1	NM_016219.5(MAN1B1):c.183C>T:p.Asp61=	coding	Benign/Likely_benign
9	137088099	C	T	C137088099T	MAN1B1	NM_016219.5(MAN1B1):c.244C>T:p.Gln82Ter	coding	Pathogenic
9	137088887	A	G	A137088887G	MAN1B1	NM_016219.5(MAN1B1):c.347A>G:p.Glu116Gly	coding	Benign
9	137088943	G	A	G137088943A	MAN1B1	NM_016219.5(MAN1B1):c.403G>A:p.Val135Ile	coding	Benign/Likely_benign
9	137088999	G	A	G137088999A	MAN1B1	NM_016219.5(MAN1B1):c.459G>A:p.Ser153=	coding	Benign
9	137096361	C	T	C137096361T	MAN1B1	NM_016219.5(MAN1B1):c.590C>T:p.Pro197Leu	coding	Benign
9	137096373	C	T	C137096373T	MAN1B1	NM_016219.5(MAN1B1):c.602C>T:p.Pro201Leu	coding	Benign/Likely_benign
9	137097826	A	G	A137097826G	MAN1B1	NM_016219.5(MAN1B1):c.621-2A>G	noncoding	Pathogenic
9	137099709	T	C	T137099709C	MAN1B1	NM_016219.5(MAN1B1):c.744T>C:p.Tyr248=	coding	Benign/Likely_benign
9	137099826	C	T	C137099826T	MAN1B1	NM_016219.5(MAN1B1):c.861C>T:p.Leu287=	coding	Benign/Likely_benign
9	137101088	C	T	C137101088T	MAN1B1	NM_016219.5(MAN1B1):c.1000C>T:p.Arg334Cys	coding	Pathogenic
9	137101564	A	G	A137101564G	MAN1B1	NM_016219.5(MAN1B1):c.1146A>G:p.Gly382=	coding	Benign/Likely_benign
9	137101643	T	C	T137101643C	MAN1B1	NM_016219.5(MAN1B1):c.1225T>C:p.Ser409Pro	coding	Pathogenic
9	137101647	G	A	G137101647A	MAN1B1	NM_016219.5(MAN1B1):c.1229G>A:p.Arg410His	coding	Benign
9	137106120	C	T	C137106120T	MAN1B1	NM_016219.5(MAN1B1):c.1255-5C>T	noncoding	Benign
9	137106256	C	T	C137106256T	MAN1B1	NM_016219.5(MAN1B1):c.1386C>T:p.Ala462=	coding	Benign/Likely_benign
9	137106288	G	A	G137106288A	MAN1B1	NM_016219.5(MAN1B1):c.1418G>A:p.Trp473Ter	coding	Pathogenic
9	137106299	G	A	G137106299A	MAN1B1	NM_016219.5(MAN1B1):c.1429G>A:p.Gly477Arg	coding	Benign/Likely_benign
9	137106728	A	G	A137106728G	MAN1B1	NM_016219.5(MAN1B1):c.1485A>G:p.Arg495=	coding	Benign/Likely_benign
9	137106742	G	A	G137106742A	MAN1B1	NM_016219.5(MAN1B1):c.1499G>A:p.Arg500Gln	coding	Benign/Likely_benign
9	137107393	G	A	G137107393A	MAN1B1	NM_016219.5(MAN1B1):c.1710G>A:p.Glu570=	coding	Benign/Likely_benign
9	137107396	C	T	C137107396T	MAN1B1	NM_016219.5(MAN1B1):c.1713C>T:p.Ile571=	coding	Benign
9	137107444	C	G	C137107444G	MAN1B1	NM_016219.5(MAN1B1):c.1761C>G:p.Val587=	coding	Benign
9	137107526	C	A	C137107526A	MAN1B1	NM_016219.5(MAN1B1):c.1765-5C>A	noncoding	Benign
9	137107611	A	G	A137107611G	MAN1B1	NM_016219.5(MAN1B1):c.1845A>G:p.Lys615=	coding	Benign
9	137107669	A	G	A137107669G	MAN1B1	NM_016219.5(MAN1B1):c.1896+7A>G	noncoding	Benign
9	137108376	G	A	G137108376A	MAN1B1	NM_016219.5(MAN1B1):c.1897-12G>A	noncoding	Benign
9	137108396	G	T	G137108396T	MAN1B1	NM_016219.5(MAN1B1):c.1905G>T:p.Ser635=	coding	Benign
9	137108423	C	T	C137108423T	MAN1B1	NM_016219.5(MAN1B1):c.1932C>T:p.Val644=	coding	Benign
9	137108447	T	C	T137108447C	MAN1B1	NM_016219.5(MAN1B1):c.1956T>C:p.Pro652=	coding	Benign
9	137108537	T	C	T137108537C	MAN1B1	NM_016219.5(MAN1B1):c.2046T>C:p.Asp682=	coding	Benign
9	137108543	C	T	C137108543T	MAN1B1	NM_016219.5(MAN1B1):c.2052C>T:p.Tyr684=	coding	Benign
9	137108748	C	G	C137108748G	MAN1B1	NM_016219.5(MAN1B1):c.*157C>G	noncoding	Benign
9	137108975	A	G	A137108975G	MAN1B1	NM_016219.5(MAN1B1):c.*384A>G	noncoding	Benign
9	137109188	G	A	G137109188A	MAN1B1	NM_016219.4(MAN1B1):c.*597G>A	noncoding	Benign
9	137139452	C	A	C137139452A	GRIN1	NM_007327.4(GRIN1):c.-35C>A	noncoding	Benign
9	137139640	C	G	C137139640G	GRIN1	NM_007327.4(GRIN1):c.154C>G:p.Arg52Gly	coding	Benign
9	137139723	C	T	C137139723T	GRIN1	NM_007327.4(GRIN1):c.237C>T:p.Cys79=	coding	Benign/Likely_benign
9	137139732	C	T	C137139732T	GRIN1	NM_007327.4(GRIN1):c.246C>T:p.Leu82=	coding	Benign
9	137139979	C	T	C137139979T	GRIN1	NM_007327.4(GRIN1):c.258+235C>T	noncoding	Benign
9	137145587	C	A	C137145587A	GRIN1	NM_007327.4(GRIN1):c.394-139C>A	noncoding	Benign
9	137145715	G	A	G137145715A	GRIN1	NM_007327.4(GRIN1):c.394-11G>A	noncoding	Benign
9	137145839	C	T	C137145839T	GRIN1	NM_007327.4(GRIN1):c.507C>T:p.Asp169=	coding	Benign
9	137145857	G	A	G137145857A	GRIN1	NM_007327.4(GRIN1):c.525G>A:p.Ala175=	coding	Benign/Likely_benign
9	137145912	G	A	G137145912A	GRIN1	NM_007327.4(GRIN1):c.570+10G>A	noncoding	Benign/Likely_benign
9	137146165	G	C	G137146165C	GRIN1	NM_007327.4(GRIN1):c.570+263G>C	noncoding	Benign
9	137147868	G	A	G137147868A	GRIN1	NM_007327.4(GRIN1):c.571-1141G>A	noncoding	Benign
9	137149052	C	T	C137149052T	GRIN1	NM_007327.4(GRIN1):c.614C>T:p.Thr205Met	coding	Benign/Likely_benign
9	137149087	C	T	C137149087T	GRIN1	NM_007327.4(GRIN1):c.649C>T:p.Arg217Trp	coding	Pathogenic
9	137156339	A	G	A137156339G	GRIN1	NM_007327.4(GRIN1):c.672-330A>G	noncoding	Benign
9	137156535	A	G	A137156535G	GRIN1	NM_007327.4(GRIN1):c.672-134A>G	noncoding	Benign
9	137156563	A	C	A137156563C	GRIN1	NM_007327.4(GRIN1):c.672-106A>C	noncoding	Benign
9	137156589	A	G	A137156589G	GRIN1	NM_007327.4(GRIN1):c.672-80A>G	noncoding	Benign
9	137156690	A	C	A137156690C	GRIN1	NM_007327.4(GRIN1):c.693A>C:p.Val231=	coding	Benign/Likely_benign
9	137156786	A	G	A137156786G	GRIN1	NM_007327.4(GRIN1):c.789A>G:p.Pro263=	coding	Benign
9	137156924	G	A	G137156924A	GRIN1	NM_007327.4(GRIN1):c.855G>A:p.Val285=	coding	Benign
9	137157311	A	G	A137157311G	GRIN1	NM_007327.4(GRIN1):c.968+274A>G	noncoding	Benign
9	137158202	G	A	G137158202A	GRIN1	NM_007327.4(GRIN1):c.969-177G>A	noncoding	Benign
9	137158402	C	T	C137158402T	GRIN1	NM_007327.4(GRIN1):c.992C>T:p.Ala331Val	coding	Benign
9	137158454	C	T	C137158454T	GRIN1	NM_007327.4(GRIN1):c.1044C>T:p.Phe348=	coding	Benign/Likely_benign
9	137158508	C	G	C137158508G	GRIN1	NM_007327.4(GRIN1):c.1098C>G:p.Ile366Met	coding	Benign
9	137158656	C	T	C137158656T	GRIN1	NM_007327.4(GRIN1):c.1149C>T:p.Gly383=	coding	Benign
9	137161193	C	T	C137161193T	GRIN1	NM_007327.4(GRIN1):c.1335C>T:p.Gly445=	coding	Benign
9	137161251	G	A	G137161251A	GRIN1	NM_007327.4(GRIN1):c.1340-38G>A	noncoding	Benign
9	137161289	C	A	C137161289A	GRIN1	NM_007327.4(GRIN1):c.1340C>A:p.Pro447His	coding	Benign
9	137161424	G	A	G137161424A	GRIN1	NM_007327.4(GRIN1):c.1467+8G>A	noncoding	Benign
9	137161576	G	A	G137161576A	GRIN1	NM_007327.4(GRIN1):c.1467+160G>A	noncoding	Benign
9	137161598	C	T	C137161598T	GRIN1	NM_007327.4(GRIN1):c.1467+182C>T	noncoding	Benign
9	137161618	T	C	T137161618C	GRIN1	NM_007327.4(GRIN1):c.1467+202T>C	noncoding	Benign
9	137161969	C	T	C137161969T	GRIN1	NM_007327.4(GRIN1):c.1513C>T:p.Leu505=	coding	Benign/Likely_benign
9	137162004	G	A	G137162004A	GRIN1	NM_007327.4(GRIN1):c.1548G>A:p.Pro516=	coding	Benign
9	137162040	G	A	G137162040A	GRIN1	NM_007327.4(GRIN1):c.1584G>A:p.Glu528=	coding	Benign/Likely_benign
9	137162182	G	A	G137162182A	GRIN1	NM_007327.4(GRIN1):c.1643G>A:p.Arg548Gln	coding	Pathogenic
9	137162184	A	C	A137162184C	GRIN1	NM_007327.4(GRIN1):c.1645A>C:p.Ser549Arg	coding	Pathogenic
9	137162195	C	A	C137162195A	GRIN1	NM_007327.4(GRIN1):c.1656C>A:p.Asp552Glu	coding	Pathogenic
9	137162195	C	G	C137162195G	GRIN1	NM_007327.4(GRIN1):c.1656C>G:p.Asp552Glu	coding	Pathogenic
9	137162205	C	T	C137162205T	GRIN1	NM_007327.4(GRIN1):c.1666C>T:p.Gln556Ter	coding	Pathogenic
9	137162209	C	G	C137162209G	GRIN1	NM_007327.4(GRIN1):c.1670C>G:p.Pro557Arg	coding	Pathogenic
9	137162255	G	A	G137162255A	GRIN1	NM_007327.4(GRIN1):c.1716G>A:p.Val572=	coding	Benign
9	137162461	G	C	G137162461C	GRIN1	NM_007327.4(GRIN1):c.1809G>C:p.Leu603=	coding	Benign/Likely_benign
9	137162510	G	A	G137162510A	GRIN1	NM_007327.4(GRIN1):c.1858G>A:p.Gly620Arg	coding	Pathogenic/Likely_pathogenic
9	137162510	G	C	G137162510C	GRIN1	NM_007327.4(GRIN1):c.1858G>C:p.Gly620Arg	coding	Pathogenic/Likely_pathogenic
9	137162649	G	A	G137162649A	GRIN1	NM_007327.4(GRIN1):c.1923G>A:p.Met641Ile	coding	Pathogenic
9	137162656	G	A	G137162656A	GRIN1	NM_007327.4(GRIN1):c.1930G>A:p.Val644Met	coding	Pathogenic
9	137162659	G	T	G137162659T	GRIN1	NM_007327.4(GRIN1):c.1933G>T:p.Ala645Ser	coding	Pathogenic
9	137162676	C	G	C137162676G	GRIN1	NM_007327.4(GRIN1):c.1950C>G:p.Asn650Lys	coding	Pathogenic
9	137162681	C	T	C137162681T	GRIN1	NM_007327.4(GRIN1):c.1955C>T:p.Ala652Val	coding	Pathogenic
9	137162684	C	G	C137162684G	GRIN1	NM_007327.4(GRIN1):c.1958C>G:p.Ala653Gly	coding	Pathogenic
9	137162687	T	G	T137162687G	GRIN1	NM_007327.4(GRIN1):c.1961T>G:p.Phe654Cys	coding	Pathogenic
9	137162701	C	T	C137162701T	GRIN1	NM_007327.4(GRIN1):c.1975C>T:p.Arg659Trp	coding	Pathogenic
9	137162710	G	A	G137162710A	GRIN1	NM_007327.4(GRIN1):c.1984G>A:p.Glu662Lys	coding	Pathogenic
9	137163238	G	C	G137163238C	GRIN1	NM_007327.4(GRIN1):c.2241G>C:p.Val747=	coding	Benign
9	137163241	G	C	G137163241C	GRIN1	NM_007327.4(GRIN1):c.2244G>C:p.Thr748=	coding	Benign
9	137163325	C	T	C137163325T	GRIN1	NM_007327.4(GRIN1):c.2328C>T:p.Ile776=	coding	Benign/Likely_benign
9	137163339	C	A	C137163339A	GRIN1	NM_007327.4(GRIN1):c.2333+9C>A	noncoding	Benign/Likely_benign
9	137163668	G	A	G137163668A	GRIN1	NM_007327.4(GRIN1):c.2443G>A:p.Gly815Arg	coding	Pathogenic
9	137163764	T	C	T137163764C	GRIN1	NM_007327.4(GRIN1):c.2449T>C:p.Phe817Leu	coding	Pathogenic
9	137163819	T	C	T137163819C	GRIN1	NM_007327.4(GRIN1):c.2504T>C:p.Ile835Thr	coding	Pathogenic
9	137163845	C	T	C137163845T	GRIN1	NM_007327.4(GRIN1):c.2530C>T:p.Arg844Cys	coding	Pathogenic/Likely_pathogenic
9	137169135	G	C	G137169135C	LRRC26	NM_001013653.2(LRRC26):c.724C>G:p.Leu242Val	coding	Benign
9	137175736	C	T	C137175736T	ANAPC2	NM_013366.4(ANAPC2):c.1992G>A:p.Ala664=	coding	Benign
9	137180871	G	A	G137180871A	ANAPC2	NM_013366.4(ANAPC2):c.1527C>T:p.Tyr509=	coding	Benign
9	137192488	C	T	C137192488T	TPRN	NM_001128228.3(TPRN):c.1929G>A:p.Val643=	coding	Benign/Likely_benign
9	137198977	C	G	C137198977G	TPRN	NM_001128228.3(TPRN):c.1725+10G>C	noncoding	Benign
9	137199456	G	A	G137199456A	TPRN	NM_001128228.3(TPRN):c.1256C>T:p.Pro419Leu	coding	Benign
9	137199473	C	T	C137199473T	TPRN	NM_001128228.3(TPRN):c.1239G>A:p.Trp413Ter	coding	Pathogenic
9	137199574	C	A	C137199574A	TPRN	NM_001128228.3(TPRN):c.1138G>T:p.Ala380Ser	coding	Benign
9	137199618	T	C	T137199618C	TPRN	NM_001128228.3(TPRN):c.1094A>G:p.Gln365Arg	coding	Benign
9	137199639	A	G	A137199639G	TPRN	NM_001128228.3(TPRN):c.1073T>C:p.Leu358Pro	coding	Benign
9	137199743	G	A	G137199743A	TPRN	NM_001128228.3(TPRN):c.969C>T:p.Leu323=	coding	Benign
9	137199818	C	T	C137199818T	TPRN	NM_001128228.3(TPRN):c.894G>A:p.Glu298=	coding	Benign
9	137199821	G	C	G137199821C	TPRN	NM_001128228.3(TPRN):c.891C>G:p.Phe297Leu	coding	Benign/Likely_benign
9	137199854	G	A	G137199854A	TPRN	NM_001128228.3(TPRN):c.858C>T:p.Cys286=	coding	Benign/Likely_benign
9	137200153	C	A	C137200153A	TPRN	NM_001128228.3(TPRN):c.559G>T:p.Ala187Ser	coding	Benign
9	137200659	C	T	C137200659T	TPRN	NM_001128228.3(TPRN):c.53G>A:p.Trp18Ter	coding	Pathogenic
9	137232284	C	T	C137232284T	SLC34A3	NM_001177316.2(SLC34A3):c.175+123C>T	noncoding	Benign
9	137232599	G	A	G137232599A	SLC34A3	NM_001177316.2(SLC34A3):c.200G>A:p.Arg67His	coding	Benign
9	137232672	C	T	C137232672T	SLC34A3	NM_001177316.2(SLC34A3):c.273C>T:p.Asp91=	coding	Benign/Likely_benign
9	137232705	T	C	T137232705C	SLC34A3	NM_001177316.2(SLC34A3):c.304+2T>C	noncoding	Pathogenic
9	137232800	C	T	C137232800T	SLC34A3	NM_001177316.2(SLC34A3):c.321C>T:p.Asp107=	coding	Benign/Likely_benign
9	137232870	C	T	C137232870T	SLC34A3	NM_001177316.2(SLC34A3):c.391C>T:p.Leu131=	coding	Benign
9	137232928	G	A	G137232928A	SLC34A3	NM_001177316.2(SLC34A3):c.448+1G>A	coding	Pathogenic/Likely_pathogenic
9	137233032	C	T	C137233032T	SLC34A3	NM_001177316.2(SLC34A3):c.477C>T:p.Ile159=	coding	Benign
9	137233048	G	A	G137233048A	SLC34A3	NM_001177316.2(SLC34A3):c.493G>A:p.Val165Ile	coding	Benign
9	137233094	G	C	G137233094C	SLC34A3	NM_001177316.2(SLC34A3):c.539G>C:p.Gly180Ala	coding	Benign
9	137233125	G	C	G137233125C	SLC34A3	NM_001177316.2(SLC34A3):c.560+10G>C	noncoding	Benign
9	137233223	C	G	C137233223G	SLC34A3	NM_001177316.2(SLC34A3):c.575C>G:p.Ser192Trp	coding	Pathogenic
9	137233223	C	T	C137233223T	SLC34A3	NM_001177316.2(SLC34A3):c.575C>T:p.Ser192Leu	coding	Pathogenic
9	137233234	G	A	G137233234A	SLC34A3	NM_001177316.2(SLC34A3):c.586G>A:p.Gly196Arg	coding	Pathogenic
9	137233273	C	T	C137233273T	SLC34A3	NM_001177316.2(SLC34A3):c.625C>T:p.Leu209=	coding	Benign
9	137233327	G	A	G137233327A	SLC34A3	NM_001177316.2(SLC34A3):c.679G>A:p.Ala227Thr	coding	Benign
9	137233413	G	A	G137233413A	SLC34A3	NM_001177316.2(SLC34A3):c.756+9G>A	noncoding	Benign
9	137233633	T	C	T137233633C	SLC34A3	NM_001177316.2(SLC34A3):c.757T>C:p.Leu253=	coding	Benign
9	137233655	G	A	G137233655A	SLC34A3	NM_001177316.2(SLC34A3):c.779G>A:p.Ser260Asn	coding	Benign/Likely_benign
9	137233704	C	T	C137233704T	SLC34A3	NM_001177316.2(SLC34A3):c.828C>T:p.Cys276=	coding	Benign
9	137233712	C	T	C137233712T	SLC34A3	NM_001177316.2(SLC34A3):c.836C>T:p.Thr279Met	coding	Benign
9	137233722	G	A	G137233722A	SLC34A3	NM_001177316.2(SLC34A3):c.846G>A:p.Pro282=	coding	Pathogenic/Likely_pathogenic
9	137233892	C	T	C137233892T	SLC34A3	NM_001177316.2(SLC34A3):c.876C>T:p.Phe292=	coding	Benign
9	137234112	G	A	G137234112A	SLC34A3	NM_001177316.2(SLC34A3):c.929G>A:p.Arg310His	coding	Benign/Likely_benign
9	137234192	G	A	G137234192A	SLC34A3	NM_001177316.2(SLC34A3):c.1009G>A:p.Gly337Ser	coding	Benign
9	137234241	G	T	G137234241T	SLC34A3	NM_001177316.2(SLC34A3):c.1058G>T:p.Arg353Leu	coding	Pathogenic
9	137234254	C	T	C137234254T	SLC34A3	NM_001177316.2(SLC34A3):c.1071C>T:p.Val357=	coding	Benign
9	137234406	T	A	T137234406A	SLC34A3	NM_001177316.2(SLC34A3):c.1094-10T>A	noncoding	Benign
9	137234462	C	T	C137234462T	SLC34A3	NM_001177316.2(SLC34A3):c.1140C>T:p.Leu380=	coding	Benign/Likely_benign
9	137234634	C	A	C137234634A	SLC34A3	NM_001177316.2(SLC34A3):c.1238C>A:p.Ala413Glu	coding	Pathogenic
9	137235944	G	A	G137235944A	SLC34A3	NM_001177316.2(SLC34A3):c.1336-8G>A	noncoding	Benign
9	137236018	C	T	C137236018T	SLC34A3	NM_001177316.2(SLC34A3):c.1402C>T:p.Arg468Trp	coding	Pathogenic
9	137236070	G	A	G137236070A	SLC34A3	NM_001177316.2(SLC34A3):c.1454G>A:p.Arg485His	coding	Benign
9	137236098	C	T	C137236098T	SLC34A3	NM_001177316.2(SLC34A3):c.1482C>T:p.Leu494=	coding	Benign
9	137236128	C	T	C137236128T	SLC34A3	NM_001177316.2(SLC34A3):c.1512C>T:p.Phe504=	coding	Benign
9	137236154	A	T	A137236154T	SLC34A3	NM_001177316.2(SLC34A3):c.1538A>T:p.Glu513Val	coding	Benign
9	137236201	A	T	A137236201T	SLC34A3	NM_001177316.2(SLC34A3):c.1585A>T:p.Ile529Phe	coding	Benign/Likely_benign
9	137236430	A	C	A137236430C	SLC34A3	NM_001177316.2(SLC34A3):c.*14A>C	noncoding	Benign
9	137242785	C	T	C137242785T	TUBB4B	NM_006088.6(TUBB4B):c.567C>T:p.Val189=	coding	Benign
9	137243253	C	T	C137243253T	TUBB4B	NM_006088.6(TUBB4B):c.1035C>T:p.Ile345=	coding	Benign
9	137252108	A	G	A137252108G	STPG3	NM_001256699.1(STPG3):c.376A>G:p.Ser126Gly	coding	Benign
9	137349428	G	A	G137349428A	EXD3	NM_017820.5(EXD3):c.1598C>T:p.Thr533Met	coding	Benign
9	137436005	G	A	G137436005A	ENTPD8	NM_001033113.2(ENTPD8):c.1050+8C>T	noncoding	Benign
9	137436923	G	A	G137436923A	ENTPD8	NM_001033113.2(ENTPD8):c.501C>T:p.Ala167=	coding	Benign
9	137438272	C	T	C137438272T	ENTPD8	NM_001033113.2(ENTPD8):c.14G>A:p.Arg5Gln	coding	Benign
9	137449558	C	T	C137449558T	NSMF	NM_015537.4(NSMF):c.1489+41G>A	noncoding	Benign
9	137449627	G	A	G137449627A	NSMF	NM_015537.4(NSMF):c.1461C>T:p.Phe487=	coding	Benign/Likely_benign
9	137449752	C	T	C137449752T	NSMF	NM_015537.4(NSMF):c.1414-78G>A	noncoding	Benign
9	137450012	G	A	G137450012A	NSMF	NM_001130969.3(NSMF):c.1330C>T:p.Leu444=	coding	Benign
9	137450264	A	G	A137450264G	NSMF	NM_015537.4(NSMF):c.1231-9T>C	noncoding	Benign
9	137452592	G	A	G137452592A	NSMF	NM_001130969.3(NSMF):c.1132-6C>T	noncoding	Benign
9	137452781	G	T	G137452781T	NSMF	NM_001130969.3(NSMF):c.1086C>A:p.Pro362=	coding	Benign
9	137453125	G	A	G137453125A	NSMF	NM_001130969.3(NSMF):c.978C>T:p.Asp326=	coding	Benign
9	137455835	C	T	C137455835T	NSMF	NM_015537.4(NSMF):c.705-528G>A	noncoding	Benign
9	137456479	G	A	G137456479A	NSMF	NM_001130969.3(NSMF):c.636C>T:p.Ile212=	coding	Benign
9	137456485	G	A	G137456485A	NSMF	NM_001130969.3(NSMF):c.630C>T:p.Asp210=	coding	Benign
9	137459023	C	T	C137459023T	NSMF	NM_015537.4(NSMF):c.71+9G>A	noncoding	Benign/Likely_benign
9	137459050	G	T	G137459050T	NSMF	NM_001130969.3(NSMF):c.53C>A:p.Ser18Ter	coding	Pathogenic
9	137495086	A	G	A137495086G	PNPLA7	NM_001098537.3(PNPLA7):c.2074T>C:p.Leu692=	coding	Benign
9	137583064	G	A	G137583064A	ZMYND19	NM_138462.3(ZMYND19):c.459C>T:p.Asn153=	coding	Benign
9	137583073	A	G	A137583073G	ZMYND19	NM_138462.3(ZMYND19):c.450T>C:p.Tyr150=	coding	Benign
9	137588722	G	A	G137588722A	ZMYND19	NM_138462.3(ZMYND19):c.52-4C>T	noncoding	Benign
9	137710980	G	A	G137710980A	EHMT1	NM_024757.5(EHMT1):c.35G>A:p.Arg12Lys	coding	Benign
9	137716668	C	G	C137716668G	EHMT1	NM_024757.5(EHMT1):c.128C>G:p.Ala43Gly	coding	Benign
9	137716668	C	T	C137716668T	EHMT1	NM_024757.5(EHMT1):c.128C>T:p.Ala43Val	coding	Benign
9	137716669	A	T	A137716669T	EHMT1	NM_024757.5(EHMT1):c.129A>T:p.Ala43=	coding	Benign
9	137716682	A	G	A137716682G	EHMT1	NM_024757.5(EHMT1):c.142A>G:p.Met48Val	coding	Benign
9	137716688	G	A	G137716688A	EHMT1	NM_024757.5(EHMT1):c.148G>A:p.Ala50Thr	coding	Benign
9	137716744	T	C	T137716744C	EHMT1	NM_024757.5(EHMT1):c.204T>C:p.Asn68=	coding	Benign
9	137716745	G	A	G137716745A	EHMT1	NM_024757.5(EHMT1):c.205G>A:p.Ala69Thr	coding	Benign
9	137716760	C	G	C137716760G	EHMT1	NM_024757.5(EHMT1):c.220C>G:p.Gln74Glu	coding	Benign
9	137716774	G	C	G137716774C	EHMT1	NM_024757.5(EHMT1):c.234G>C:p.Arg78Ser	coding	Benign
9	137716791	G	A	G137716791A	EHMT1	NM_024757.5(EHMT1):c.251G>A:p.Gly84Asp	coding	Benign
9	137716842	C	G	C137716842G	EHMT1	NM_024757.5(EHMT1):c.302C>G:p.Ser101Ter	coding	Pathogenic
9	137716851	C	T	C137716851T	EHMT1	NM_024757.5(EHMT1):c.311C>T:p.Ala104Val	coding	Benign
9	137716852	G	A	G137716852A	EHMT1	NM_024757.5(EHMT1):c.312G>A:p.Ala104=	coding	Benign
9	137716856	C	G	C137716856G	EHMT1	NM_024757.5(EHMT1):c.316C>G:p.Gln106Glu	coding	Benign/Likely_benign
9	137716865	G	A	G137716865A	EHMT1	NM_024757.5(EHMT1):c.325G>A:p.Val109Ile	coding	Benign
9	137716894	T	G	T137716894G	EHMT1	NM_024757.5(EHMT1):c.354T>G:p.Ser118=	coding	Benign/Likely_benign
9	137716903	C	T	C137716903T	EHMT1	NM_024757.5(EHMT1):c.363C>T:p.Gly121=	coding	Benign
9	137716909	C	T	C137716909T	EHMT1	NM_024757.5(EHMT1):c.369C>T:p.Asn123=	coding	Benign/Likely_benign
9	137716920	T	G	T137716920G	EHMT1	NM_024757.5(EHMT1):c.380T>G:p.Leu127Ter	coding	Pathogenic
9	137716972	C	T	C137716972T	EHMT1	NM_024757.5(EHMT1):c.432C>T:p.Ala144=	coding	Benign/Likely_benign
9	137716984	T	C	T137716984C	EHMT1	NM_024757.5(EHMT1):c.444T>C:p.Pro148=	coding	Benign
9	137717020	C	T	C137717020T	EHMT1	NM_024757.5(EHMT1):c.480C>T:p.Gly160=	coding	Benign/Likely_benign
9	137717024	G	A	G137717024A	EHMT1	NM_024757.5(EHMT1):c.484G>A:p.Gly162Ser	coding	Benign
9	137717048	C	T	C137717048T	EHMT1	NM_024757.5(EHMT1):c.508C>T:p.Gln170Ter	coding	Pathogenic
9	137717052	C	T	C137717052T	EHMT1	NM_024757.5(EHMT1):c.512C>T:p.Thr171Met	coding	Benign
9	137717066	C	T	C137717066T	EHMT1	NM_024757.5(EHMT1):c.526C>T:p.Pro176Ser	coding	Benign
9	137717121	C	T	C137717121T	EHMT1	NM_024757.5(EHMT1):c.581C>T:p.Pro194Leu	coding	Benign/Likely_benign
9	137717125	C	T	C137717125T	EHMT1	NM_024757.5(EHMT1):c.585C>T:p.Gly195=	coding	Benign
9	137717136	A	G	A137717136G	EHMT1	NM_024757.5(EHMT1):c.596A>G:p.Lys199Arg	coding	Benign
9	137717220	A	G	A137717220G	EHMT1	NM_024757.5(EHMT1):c.642+38A>G	noncoding	Benign
9	137728379	C	T	C137728379T	EHMT1	NM_024757.5(EHMT1):c.673C>T:p.Arg225Ter	coding	Pathogenic/Likely_pathogenic
9	137728439	G	T	G137728439T	EHMT1	NM_024757.5(EHMT1):c.733G>T:p.Gly245Ter	coding	Pathogenic
9	137728476	A	C	A137728476C	EHMT1	NM_024757.5(EHMT1):c.770A>C:p.His257Pro	coding	Benign
9	137743418	C	T	C137743418T	EHMT1	NM_024757.5(EHMT1):c.871C>T:p.Arg291Ter	coding	Pathogenic
9	137743893	G	A	G137743893A	EHMT1	NM_024757.5(EHMT1):c.982-9G>A	noncoding	Benign
9	137743964	G	A	G137743964A	EHMT1	NM_024757.5(EHMT1):c.1044G>A:p.Ser348=	coding	Benign
9	137744009	T	C	T137744009C	EHMT1	NM_024757.5(EHMT1):c.1089T>C:p.Gly363=	coding	Benign
9	137744027	G	A	G137744027A	EHMT1	NM_024757.5(EHMT1):c.1107G>A:p.Ala369=	coding	Benign/Likely_benign
9	137744069	G	A	G137744069A	EHMT1	NM_024757.5(EHMT1):c.1149G>A:p.Ser383=	coding	Benign/Likely_benign
9	137744082	G	A	G137744082A	EHMT1	NM_024757.5(EHMT1):c.1162G>A:p.Ala388Thr	coding	Benign
9	137754162	G	T	G137754162T	EHMT1	NM_024757.5(EHMT1):c.1249-9G>T	noncoding	Benign
9	137754281	C	T	C137754281T	EHMT1	NM_024757.5(EHMT1):c.1359C>T:p.Ser453=	coding	Benign
9	137754282	G	A	G137754282A	EHMT1	NM_024757.5(EHMT1):c.1360G>A:p.Gly454Ser	coding	Benign
9	137754290	C	T	C137754290T	EHMT1	NM_024757.5(EHMT1):c.1368C>T:p.Leu456=	coding	Benign
9	137757912	G	A	G137757912A	EHMT1	NM_024757.5(EHMT1):c.1402G>A:p.Ala468Thr	coding	Benign
9	137757922	C	T	C137757922T	EHMT1	NM_024757.5(EHMT1):c.1412C>T:p.Thr471Met	coding	Benign
9	137757930	G	T	G137757930T	EHMT1	NM_024757.5(EHMT1):c.1420G>T:p.Gly474Ter	coding	Pathogenic
9	137758024	G	T	G137758024T	EHMT1	NM_024757.5(EHMT1):c.1501+13G>T	noncoding	Benign
9	137762716	C	T	C137762716T	EHMT1	NM_024757.5(EHMT1):c.1543C>T:p.Gln515Ter	coding	Pathogenic
9	137762756	A	G	A137762756G	EHMT1	NM_024757.5(EHMT1):c.1583A>G:p.Lys528Arg	coding	Benign
9	137762761	C	T	C137762761T	EHMT1	NM_024757.5(EHMT1):c.1588C>T:p.Arg530Ter	coding	Pathogenic
9	137762822	T	C	T137762822C	EHMT1	NM_024757.5(EHMT1):c.1647+2T>C	noncoding	Pathogenic/Likely_pathogenic
9	137775089	C	T	C137775089T	EHMT1	NM_024757.5(EHMT1):c.1648-20C>T	noncoding	Benign
9	137775204	C	T	C137775204T	EHMT1	NM_024757.5(EHMT1):c.1743C>T:p.Arg581=	coding	Benign
9	137776636	C	T	C137776636T	EHMT1	NM_024757.5(EHMT1):c.1810C>T:p.Gln604Ter	coding	Pathogenic
9	137776684	C	A	C137776684A	EHMT1	NM_024757.5(EHMT1):c.1858C>A:p.Arg620=	coding	Benign/Likely_benign
9	137776684	C	T	C137776684T	EHMT1	NM_024757.5(EHMT1):c.1858C>T:p.Arg620Ter	coding	Pathogenic
9	137776695	C	T	C137776695T	EHMT1	NM_024757.5(EHMT1):c.1869C>T:p.Asn623=	coding	Benign
9	137776776	C	T	C137776776T	EHMT1	NM_024757.5(EHMT1):c.1950C>T:p.Thr650=	coding	Benign
9	137776809	G	A	G137776809A	EHMT1	NM_024757.5(EHMT1):c.1983G>A:p.Ser661=	coding	Benign
9	137776845	G	C	G137776845C	EHMT1	NM_024757.5(EHMT1):c.2018+1G>C	coding	Pathogenic
9	137777903	G	A	G137777903A	EHMT1	NM_024757.5(EHMT1):c.2040G>A:p.Ser680=	coding	Benign
9	137779634	G	C	G137779634C	EHMT1	NM_024757.5(EHMT1):c.2193-1G>C	noncoding	Pathogenic
9	137782392	G	C	G137782392C	EHMT1	NM_024757.5(EHMT1):c.2377G>C:p.Val793Leu	coding	Benign
9	137790873	C	G	C137790873G	EHMT1	NM_024757.5(EHMT1):c.2408C>G:p.Ser803Ter	coding	Pathogenic
9	137798811	A	G	A137798811G	EHMT1	NM_024757.5(EHMT1):c.2506-2A>G	noncoding	Pathogenic
9	137798873	C	T	C137798873T	EHMT1	NM_024757.5(EHMT1):c.2566C>T:p.Gln856Ter	coding	Pathogenic
9	137798903	G	A	G137798903A	EHMT1	NM_024757.5(EHMT1):c.2596G>A:p.Val866Ile	coding	Benign
9	137800879	G	A	G137800879A	EHMT1	NM_024757.5(EHMT1):c.2608-1G>A	noncoding	Pathogenic
9	137800894	G	A	G137800894A	EHMT1	NM_024757.5(EHMT1):c.2622G>A:p.Trp874Ter	coding	Pathogenic
9	137800900	C	T	C137800900T	EHMT1	NM_024757.5(EHMT1):c.2628C>T:p.Pro876=	coding	Benign
9	137800921	C	A	C137800921A	EHMT1	NM_024757.5(EHMT1):c.2649C>A:p.Tyr883Ter	coding	Pathogenic
9	137800976	C	T	C137800976T	EHMT1	NM_024757.5(EHMT1):c.2704C>T:p.Arg902Ter	coding	Pathogenic
9	137800985	G	A	G137800985A	EHMT1	NM_024757.5(EHMT1):c.2712+1G>A	coding	Pathogenic
9	137811460	G	A	G137811460A	EHMT1	NM_024757.5(EHMT1):c.2713-1G>A	noncoding	Pathogenic
9	137811620	G	A	G137811620A	EHMT1	NM_024757.5(EHMT1):c.2867+5G>A	noncoding	Pathogenic
9	137813005	G	A	G137813005A	EHMT1	NM_024757.5(EHMT1):c.2868-1G>A	noncoding	Pathogenic
9	137813083	A	G	A137813083G	EHMT1	NM_024757.5(EHMT1):c.2945A>G:p.Asn982Ser	coding	Benign
9	137813088	C	T	C137813088T	EHMT1	NM_024757.5(EHMT1):c.2950C>T:p.Gln984Ter	coding	Pathogenic
9	137813096	G	A	G137813096A	EHMT1	NM_024757.5(EHMT1):c.2958G>A:p.Trp986Ter	coding	Pathogenic
9	137813108	G	T	G137813108T	EHMT1	NM_024757.5(EHMT1):c.2970G>T:p.Gln990His	coding	Benign
9	137813138	C	T	C137813138T	EHMT1	NM_024757.5(EHMT1):c.3000C>T:p.Pro1000=	coding	Benign
9	137813149	G	A	G137813149A	EHMT1	NM_024757.5(EHMT1):c.3011G>A:p.Ser1004Asn	coding	Benign/Likely_benign
9	137813154	G	A	G137813154A	EHMT1	NM_024757.5(EHMT1):c.3016G>A:p.Val1006Met	coding	Benign/Likely_benign
9	137813166	G	A	G137813166A	EHMT1	NM_024757.5(EHMT1):c.3028G>A:p.Val1010Met	coding	Benign/Likely_benign
9	137813396	C	T	C137813396T	EHMT1	NM_024757.5(EHMT1):c.3046C>T:p.Arg1016Ter	coding	Pathogenic
9	137813437	G	A	G137813437A	EHMT1	NM_024757.5(EHMT1):c.3087G>A:p.Val1029=	coding	Benign
9	137813477	C	T	C137813477T	EHMT1	NM_024757.5(EHMT1):c.3127C>T:p.Gln1043Ter	coding	Pathogenic
9	137813531	G	T	G137813531T	EHMT1	NM_024757.5(EHMT1):c.3180+1G>T	coding	Pathogenic
9	137813540	G	A	G137813540A	EHMT1	NM_024757.5(EHMT1):c.3180+10G>A	noncoding	Benign/Likely_benign
9	137813540	G	T	G137813540T	EHMT1	NM_024757.5(EHMT1):c.3180+10G>T	noncoding	Benign
9	137814421	C	G	C137814421G	EHMT1	NM_024757.5(EHMT1):c.3181-10C>G	noncoding	Benign
9	137814468	G	A	G137814468A	EHMT1	NM_024757.5(EHMT1):c.3218G>A:p.Cys1073Tyr	coding	Pathogenic
9	137814479	C	T	C137814479T	EHMT1	NM_024757.5(EHMT1):c.3229C>T:p.Gln1077Ter	coding	Pathogenic
9	137815946	G	A	G137815946A	EHMT1	NM_024757.5(EHMT1):c.3259-1G>A	noncoding	Pathogenic
9	137816012	G	A	G137816012A	EHMT1	NM_024757.5(EHMT1):c.3324G>A:p.Ala1108=	coding	Benign
9	137816034	C	T	C137816034T	EHMT1	NM_024757.5(EHMT1):c.3346C>T:p.Arg1116Ter	coding	Pathogenic
9	137817430	A	C	A137817430C	EHMT1	NM_024757.5(EHMT1):c.3375-9A>C	noncoding	Benign
9	137817477	G	A	G137817477A	EHMT1	NM_024757.5(EHMT1):c.3413G>A:p.Trp1138Ter	coding	Pathogenic
9	137818059	G	A	G137818059A	EHMT1	NM_024757.5(EHMT1):c.3462-1G>A	noncoding	Pathogenic
9	137834457	C	T	C137834457T	EHMT1	NM_024757.5(EHMT1):c.3649C>T:p.Gln1217Ter	coding	Pathogenic
9	137834495	C	T	C137834495T	EHMT1	NM_024757.5(EHMT1):c.3687C>T:p.Thr1229=	coding	Benign
9	137834517	C	T	C137834517T	EHMT1	NM_024757.5(EHMT1):c.3709C>T:p.Gln1237Ter	coding	Pathogenic
9	137834791	C	T	C137834791T	EHMT1	NM_024757.5(EHMT1):c.3735C>T:p.Arg1245=	coding	Benign
9	137882854	C	G	C137882854G	CACNA1B	NM_000718.4(CACNA1B):c.501C>G:p.Asn167Lys	coding	Benign
9	137913219	A	G	A137913219G	CACNA1B	NM_000718.4(CACNA1B):c.570A>G:p.Thr190=	coding	Benign
9	137917296	C	T	C137917296T	CACNA1B	NM_000718.4(CACNA1B):c.831C>T:p.Cys277=	coding	Benign
9	137917383	G	A	G137917383A	CACNA1B	NM_000718.4(CACNA1B):c.918G>A:p.Thr306=	coding	Benign
9	137952361	C	T	C137952361T	CACNA1B	NM_000718.4(CACNA1B):c.1054C>T:p.Leu352=	coding	Benign
9	137955774	C	T	C137955774T	CACNA1B	NM_000718.4(CACNA1B):c.1147C>T:p.Arg383Ter	coding	Pathogenic
9	137986833	C	T	C137986833T	CACNA1B	NM_000718.4(CACNA1B):c.1953C>T:p.Ala651=	coding	Benign
9	138010006	C	A	C138010006A	CACNA1B	NM_000718.4(CACNA1B):c.2093-4C>A	noncoding	Benign/Likely_benign
9	138023324	C	T	C138023324T	CACNA1B	NM_000718.4(CACNA1B):c.2581C>T:p.Pro861Ser	coding	Benign
9	138023668	G	C	G138023668C	CACNA1B	NM_000718.4(CACNA1B):c.2925G>C:p.Pro975=	coding	Benign
9	138023729	A	G	A138023729G	CACNA1B	NM_000718.4(CACNA1B):c.2986A>G:p.Thr996Ala	coding	Benign
9	138025165	C	T	C138025165T	CACNA1B	NM_000718.4(CACNA1B):c.3279C>T:p.Val1093=	coding	Benign
9	138046931	G	T	G138046931T	CACNA1B	NM_000718.4(CACNA1B):c.3441G>T:p.Val1147=	coding	Benign
9	138049278	A	G	A138049278G	CACNA1B	NM_000718.4(CACNA1B):c.3673A>G:p.Ile1225Val	coding	Benign
9	138057783	G	A	G138057783A	CACNA1B	NM_000718.4(CACNA1B):c.4020G>A:p.Gln1340=	coding	Benign
9	138057795	C	T	C138057795T	CACNA1B	NM_000718.4(CACNA1B):c.4032C>T:p.Tyr1344=	coding	Benign
9	138058064	C	T	C138058064T	CACNA1B	NM_000718.4(CACNA1B):c.4122C>T:p.Ser1374=	coding	Benign
9	138058260	C	T	C138058260T	CACNA1B	NM_000718.4(CACNA1B):c.4308+10C>T	noncoding	Benign
9	138074057	C	T	C138074057T	CACNA1B	NM_000718.4(CACNA1B):c.4848C>T:p.Ile1616=	coding	Benign/Likely_benign
9	138074067	G	C	G138074067C	CACNA1B	NM_000718.4(CACNA1B):c.4857+1G>C	coding	Pathogenic
9	138075815	G	A	G138075815A	CACNA1B	NM_000718.4(CACNA1B):c.4858-4G>A	noncoding	Benign
9	138078123	G	A	G138078123A	CACNA1B	NM_000718.4(CACNA1B):c.4959G>A:p.Thr1653=	coding	Benign
9	138078195	C	T	C138078195T	CACNA1B	NM_000718.4(CACNA1B):c.5031C>T:p.Thr1677=	coding	Benign
9	138105749	C	T	C138105749T	CACNA1B	NM_000718.4(CACNA1B):c.5370C>T:p.His1790=	coding	Benign
9	138114499	C	A	C138114499A	CACNA1B	NM_000718.4(CACNA1B):c.5649+9C>A	noncoding	Benign
9	138120326	G	A	G138120326A	CACNA1B	NM_000718.4(CACNA1B):c.6192G>A:p.Gln2064=	coding	Benign
9	138121989	A	G	A138121989G	CACNA1B	NM_000718.4(CACNA1B):c.7010A>G:p.His2337Arg	coding	Benign
10	180034	C	T	C180034T	ZMYND11	NM_001330057.1(ZMYND11):c.-125C>T	coding	Pathogenic
10	180058	C	T	C180058T	ZMYND11	NM_006624.5(ZMYND11):c.46C>T:p.Gln16Ter	coding	Pathogenic
10	180088	C	T	C180088T	ZMYND11	NM_006624.5(ZMYND11):c.76C>T:p.Arg26Trp	coding	Pathogenic
10	180094	C	T	C180094T	ZMYND11	NM_006624.5(ZMYND11):c.82C>T:p.Gln28Ter	coding	Pathogenic
10	246791	C	T	C246791T	ZMYND11	NM_006624.5(ZMYND11):c.976C>T:p.Gln326Ter	coding	Pathogenic
10	246887	C	T	C246887T	ZMYND11	NM_006624.5(ZMYND11):c.1072C>T:p.Arg358Ter	coding	Pathogenic
10	247418	A	C	A247418C	ZMYND11	NM_006624.7(ZMYND11):c.1179A>C:p.Pro393=	coding	Benign
10	252459	C	T	C252459T	ZMYND11	NM_006624.5(ZMYND11):c.1798C>T:p.Arg600Trp	coding	Pathogenic
10	252461	G	A	G252461A	ZMYND11	NM_006624.7(ZMYND11):c.1800G>A:p.Arg600=	coding	Benign
10	277559	T	G	T277559G	DIP2C	NM_014974.3(DIP2C):c.4437A>C:p.Thr1479=	coding	Benign
10	286267	A	G	A286267G	DIP2C	NM_014974.3(DIP2C):c.4119+6T>C	noncoding	Benign
10	286350	A	G	A286350G	DIP2C	NM_014974.3(DIP2C):c.4045-3T>C	noncoding	Benign
10	341249	G	A	G341249A	DIP2C	NM_014974.3(DIP2C):c.3534C>T:p.Ile1178=	coding	Benign
10	349362	G	A	G349362A	DIP2C	NM_014974.3(DIP2C):c.3078C>T:p.Asp1026=	coding	Benign
10	349428	G	A	G349428A	DIP2C	NM_014974.3(DIP2C):c.3012C>T:p.Cys1004=	coding	Benign
10	356416	C	T	C356416T	DIP2C	NM_014974.3(DIP2C):c.2985+10G>A	noncoding	Benign
10	356450	G	C	G356450C	DIP2C	NM_014974.3(DIP2C):c.2961C>G:p.Ile987Met	coding	Benign
10	362527	G	A	G362527A	DIP2C	NM_014974.3(DIP2C):c.2757C>T:p.Cys919=	coding	Benign
10	364553	C	T	C364553T	DIP2C	NM_014974.3(DIP2C):c.2298G>A:p.Pro766=	coding	Benign
10	364562	G	A	G364562A	DIP2C	NM_014974.3(DIP2C):c.2289C>T:p.Ser763=	coding	Benign
10	369534	G	A	G369534A	DIP2C	NM_014974.3(DIP2C):c.2091C>T:p.Ser697=	coding	Benign
10	384040	G	A	G384040A	DIP2C	NM_014974.3(DIP2C):c.1863C>T:p.Asp621=	coding	Benign
10	384556	G	A	G384556A	DIP2C	NM_014974.3(DIP2C):c.1746C>T:p.Cys582=	coding	Benign
10	389982	G	C	G389982C	DIP2C	NM_014974.3(DIP2C):c.1597+9C>G	noncoding	Benign
10	390795	G	A	G390795A	DIP2C	NM_014974.3(DIP2C):c.1329C>T:p.Asp443=	coding	Benign
10	399211	C	G	C399211G	DIP2C	NM_014974.3(DIP2C):c.1158G>C:p.Leu386=	coding	Benign
10	423020	G	A	G423020A	DIP2C	NM_014974.3(DIP2C):c.408C>T:p.Gly136=	coding	Benign
10	423038	G	T	G423038T	DIP2C	NM_014974.3(DIP2C):c.395-5C>A	noncoding	Benign
10	472539	T	C	T472539C	DIP2C	NM_014974.3(DIP2C):c.168A>G:p.Gln56=	coding	Benign
10	689570	G	A	G689570A	DIP2C	NM_014974.3(DIP2C):c.9C>T:p.Asp3=	coding	Benign
10	813136	T	C	T813136C	LARP4B	NM_015155.3(LARP4B):c.2007A>G:p.Gln669=	coding	Benign
10	815050	G	A	G815050A	LARP4B	NM_015155.3(LARP4B):c.1716C>T:p.Ser572=	coding	Benign
10	825876	T	A	T825876A	LARP4B	NM_015155.3(LARP4B):c.1126-6A>T	noncoding	Benign
10	1007050	A	G	A1007050G	GTPBP4	NM_012341.3(GTPBP4):c.1035A>G:p.Glu345=	coding	Benign
10	1184934	C	T	C1184934T	ADARB2	NM_018702.4(ADARB2):c.1970G>A:p.Arg657Gln	coding	Benign
10	1233818	C	T	C1233818T	ADARB2	NM_018702.4(ADARB2):c.1389G>A:p.Ser463=	coding	Benign
10	1271025	G	A	G1271025A	ADARB2	NM_018702.4(ADARB2):c.1122C>T:p.Arg374=	coding	Benign
10	1363121	C	T	C1363121T	ADARB2	NM_018702.4(ADARB2):c.984G>A:p.Arg328=	coding	Benign
10	1363207	C	T	C1363207T	ADARB2	NM_018702.4(ADARB2):c.898G>A:p.Glu300Lys	coding	Benign
10	1363640	G	A	G1363640A	ADARB2	NM_018702.4(ADARB2):c.465C>T:p.Val155=	coding	Benign
10	3103786	C	T	C3103786T	PFKP	NM_002627.5(PFKP):c.462C>T:p.Ile154=	coding	Benign
10	3103846	C	T	C3103846T	PFKP	NM_002627.5(PFKP):c.522C>T:p.Ile174=	coding	Benign
10	3103861	C	T	C3103861T	PFKP	NM_002627.5(PFKP):c.537C>T:p.Cys179=	coding	Benign
10	3105389	A	G	A3105389G	PFKP	NM_002627.5(PFKP):c.666-4A>G	noncoding	Benign
10	3108769	C	T	C3108769T	PFKP	NM_002627.5(PFKP):c.939C>T:p.Thr313=	coding	Benign
10	3109435	C	T	C3109435T	PFKP	NM_002627.5(PFKP):c.1044C>T:p.Asn348=	coding	Benign
10	3120011	C	T	C3120011T	PFKP	NM_002627.5(PFKP):c.1650C>T:p.Ile550=	coding	Benign
10	3129842	C	T	C3129842T	PFKP	NM_002627.5(PFKP):c.1707C>T:p.Ser569=	coding	Benign
10	3129926	G	A	G3129926A	PFKP	NM_002627.5(PFKP):c.1791G>A:p.Ala597=	coding	Benign
10	3129965	C	T	C3129965T	PFKP	NM_002627.5(PFKP):c.1830C>T:p.Phe610=	coding	Benign
10	3133227	C	T	C3133227T	PFKP	NM_002627.5(PFKP):c.1935C>T:p.Tyr645=	coding	Benign
10	3134557	A	G	A3134557G	PFKP	NM_002627.5(PFKP):c.2097A>G:p.Ala699=	coding	Benign
10	3135752	C	T	C3135752T	PFKP	NM_002627.5(PFKP):c.2139C>T:p.Thr713=	coding	Benign
10	3135830	G	T	G3135830T	PFKP	NM_002627.5(PFKP):c.2217G>T:p.Thr739=	coding	Benign
10	3136531	C	T	C3136531T	PFKP	NM_002627.5(PFKP):c.2307C>T:p.Asp769=	coding	Benign
10	3136537	G	A	G3136537A	PFKP	NM_002627.5(PFKP):c.2313G>A:p.Ser771=	coding	Benign
10	3138965	G	C	G3138965C	PITRM1	NM_014889.4(PITRM1):c.2856C>G:p.Ile952Met	coding	Benign
10	3140749	G	A	G3140749A	PITRM1	NM_014889.4(PITRM1):c.2709C>T:p.Gly903=	coding	Benign
10	3143407	G	A	G3143407A	PITRM1	NM_014889.4(PITRM1):c.2627C>T:p.Thr876Met	coding	Benign
10	3145639	C	T	C3145639T	PITRM1	NM_014889.4(PITRM1):c.2414G>A:p.Arg805Gln	coding	Benign
10	3147611	G	A	G3147611A	PITRM1	NM_014889.4(PITRM1):c.2196C>T:p.Pro732=	coding	Benign
10	3147615	G	A	G3147615A	PITRM1	NM_014889.4(PITRM1):c.2192C>T:p.Thr731Met	coding	Benign
10	3149668	G	A	G3149668A	PITRM1	NM_014889.4(PITRM1):c.1824C>T:p.Pro608=	coding	Benign
10	3151264	A	G	A3151264G	PITRM1	NM_014889.4(PITRM1):c.1721T>C:p.Leu574Ser	coding	Benign
10	3157511	C	T	C3157511T	PITRM1	NM_014889.4(PITRM1):c.1271G>A:p.Arg424Gln	coding	Benign
10	3158932	T	A	T3158932A	PITRM1	NM_014889.4(PITRM1):c.1118A>T:p.Asp373Val	coding	Benign
10	3158986	G	C	G3158986C	PITRM1	NM_014889.4(PITRM1):c.1064C>G:p.Ser355Cys	coding	Benign
10	3163716	A	C	A3163716C	PITRM1	NM_014889.4(PITRM1):c.791+9T>G	noncoding	Benign
10	3167037	T	C	T3167037C	PITRM1	NM_014889.4(PITRM1):c.165A>G:p.Thr55=	coding	Benign
10	3172747	C	A	C3172747A	PITRM1	NM_014889.4(PITRM1):c.26G>T:p.Gly9Val	coding	Benign
10	3781714	C	T	C3781714T	KLF6	NM_001300.6(KLF6):c.603G>A:p.Arg201=	coding	Benign
10	3781723	C	T	C3781723T	KLF6	NM_001300.6(KLF6):c.594G>A:p.Arg198=	coding	Benign
10	3781811	A	G	A3781811G	KLF6	NM_001300.6(KLF6):c.506T>C:p.Leu169Pro	coding	Pathogenic
10	3781824	C	T	C3781824T	KLF6	NM_001300.6(KLF6):c.493G>A:p.Val165Met	coding	Benign
10	3781852	G	T	G3781852T	KLF6	NM_001300.6(KLF6):c.465C>A:p.Ser155Arg	coding	Pathogenic
10	3781907	G	T	G3781907T	KLF6	NM_001300.6(KLF6):c.410C>A:p.Ser137Ter	coding	Pathogenic
10	3781949	G	T	G3781949T	KLF6	NM_001300.6(KLF6):c.368C>A:p.Ala123Asp	coding	Pathogenic
10	3781971	A	G	A3781971G	KLF6	NM_001300.6(KLF6):c.346T>C:p.Ser116Pro	coding	Pathogenic
10	3782086	G	A	G3782086A	KLF6	NM_001300.6(KLF6):c.231C>T:p.Ser77=	coding	Benign
10	3782127	A	G	A3782127G	KLF6	NM_001300.6(KLF6):c.190T>C:p.Trp64Arg	coding	Pathogenic
10	4830738	G	A	G4830738A	AKR1E2	NM_001040177.3(AKR1E2):c.103G>A:p.Asp35Asn	coding	Benign
10	4966996	T	C	T4966996C	AKR1C1	NM_001353.6(AKR1C1):c.322T>C:p.Leu108=	coding	Benign
10	4972743	C	A	C4972743A	AKR1C1	NM_001353.6(AKR1C1):c.840C>A:p.Asn280Lys	coding	Benign
10	4991861	T	G	T4991861G	AKR1C2	NM_001354.5(AKR1C2):c.899A>C:p.Asn300Thr	coding	Pathogenic
10	4995770	A	C	A4995770C	AKR1C2	NM_001354.5(AKR1C2):c.666T>G:p.His222Gln	coding	Pathogenic
10	4999206	T	C	T4999206C	AKR1C2	NM_001354.5(AKR1C2):c.441A>G:p.Thr147=	coding	Benign
10	5000649	A	C	A5000649C	AKR1C2	NM_001354.5(AKR1C2):c.270T>G:p.His90Gln	coding	Pathogenic
10	5001531	T	C	T5001531C	AKR1C2	NM_001354.5(AKR1C2):c.235A>G:p.Ile79Val	coding	Pathogenic
10	5096522	G	A	G5096522A	AKR1C3	NM_003739.6(AKR1C3):c.197G>A:p.Arg66Gln	coding	Benign
10	5098866	G	A	G5098866A	AKR1C3	NM_003739.6(AKR1C3):c.434G>A:p.Cys145Tyr	coding	Benign
10	5099338	G	A	G5099338A	AKR1C3	NM_003739.6(AKR1C3):c.459G>A:p.Lys153=	coding	Benign
10	5102126	G	A	G5102126A	AKR1C3	NM_003739.6(AKR1C3):c.596G>A:p.Arg199Gln	coding	Benign
10	5205791	G	A	G5205791A	AKR1C4	NM_001818.4(AKR1C4):c.404G>A:p.Gly135Glu	coding	Benign
10	5205843	T	G	T5205843G	AKR1C4	NM_001818.4(AKR1C4):c.447+9T>G	noncoding	Benign
10	5213040	G	A	G5213040A	AKR1C4	NM_001818.4(AKR1C4):c.727G>A:p.Ala243Thr	coding	Benign
10	5374053	G	A	G5374053A	UCN3	NM_053049.4(UCN3):c.333G>A:p.Thr111=	coding	Benign
10	5393841	G	A	G5393841A	TUBAL3	NM_024803.3(TUBAL3):c.1017C>T:p.Ile339=	coding	Benign
10	5394387	C	T	C5394387T	TUBAL3	NM_024803.3(TUBAL3):c.471G>A:p.Thr157=	coding	Benign
10	5394453	C	G	C5394453G	TUBAL3	NM_024803.3(TUBAL3):c.405G>C:p.Gln135His	coding	Benign
10	5456139	C	T	C5456139T	NET1	NM_001047160.3(NET1):c.1250C>T:p.Thr417Ile	coding	Benign
10	5456592	A	G	A5456592G	NET1	NM_001047160.3(NET1):c.1389A>G:p.Lys463=	coding	Benign
10	5456658	C	T	C5456658T	NET1	NM_001047160.3(NET1):c.1455C>T:p.Asp485=	coding	Benign
10	5456761	G	A	G5456761A	NET1	NM_001047160.3(NET1):c.1558G>A:p.Glu520Lys	coding	Benign
10	5456847	A	G	A5456847G	NET1	NM_001047160.3(NET1):c.1644A>G:p.Glu548=	coding	Benign
10	5456955	A	G	A5456955G	NET1	NM_001047160.3(NET1):c.1752A>G:p.Lys584=	coding	Benign
10	5768297	T	C	T5768297C	GDI2	NM_001494.4(GDI2):c.907A>G:p.Ile303Val	coding	Benign
10	5800591	C	T	C5800591T	GDI2	NM_001494.4(GDI2):c.153+7G>A	noncoding	Benign
10	5953184	C	T	C5953184T	IL15RA	NM_002189.4(IL15RA):c.715G>A:p.Val239Ile	coding	Benign
10	5960437	G	C	G5960437C	IL15RA	NM_002189.4(IL15RA):c.513C>G:p.Ser171=	coding	Benign
10	5963793	G	A	G5963793A	IL15RA	NM_002189.4(IL15RA):c.332C>T:p.Thr111Met	coding	Benign
10	6010681	A	C	A6010681C	IL2RA	NM_000417.2(IL2RA):c.*2191T>G	noncoding	Benign
10	6010764	A	C	A6010764C	IL2RA	NM_000417.2(IL2RA):c.*2108T>G	noncoding	Benign
10	6010878	C	A	C6010878A	IL2RA	NM_000417.2(IL2RA):c.*1994G>T	noncoding	Benign
10	6010992	G	C	G6010992C	IL2RA	NM_000417.2(IL2RA):c.*1880C>G	noncoding	Benign
10	6011170	G	A	G6011170A	IL2RA	NM_000417.2(IL2RA):c.*1702C>T	noncoding	Benign
10	6011200	T	A	T6011200A	IL2RA	NM_000417.2(IL2RA):c.*1672A>T	noncoding	Benign
10	6011323	G	A	G6011323A	IL2RA	NM_000417.2(IL2RA):c.*1549C>T	noncoding	Benign
10	6011411	A	G	A6011411G	IL2RA	NM_000417.2(IL2RA):c.*1461T>C	noncoding	Benign
10	6011605	C	T	C6011605T	IL2RA	NM_000417.2(IL2RA):c.*1267G>A	noncoding	Benign
10	6011848	C	T	C6011848T	IL2RA	NM_000417.3(IL2RA):c.*1024G>A	noncoding	Benign
10	6011864	C	T	C6011864T	IL2RA	NM_000417.2(IL2RA):c.*1008G>A	noncoding	Benign
10	6011903	C	T	C6011903T	IL2RA	NM_000417.2(IL2RA):c.*969G>A	noncoding	Benign
10	6012195	C	T	C6012195T	IL2RA	NM_000417.2(IL2RA):c.*677G>A	noncoding	Benign
10	6012802	C	T	C6012802T	IL2RA	NM_000417.2(IL2RA):c.*70G>A	noncoding	Benign
10	6012817	A	G	A6012817G	IL2RA	NM_000417.3(IL2RA):c.*55T>C	noncoding	Benign
10	6018094	G	A	G6018094A	IL2RA	NM_000417.2(IL2RA):c.753C>T:p.Ile251=	coding	Benign
10	6019444	T	C	T6019444C	IL2RA	NM_000417.2(IL2RA):c.711A>G:p.Thr237=	coding	Benign
10	6021545	G	A	G6021545A	IL2RA	NM_000417.2(IL2RA):c.516C>T:p.His172=	coding	Benign
10	6021564	C	T	C6021564T	IL2RA	NM_001308242.2(IL2RA):c.368-1623G>A	coding	Pathogenic
10	6021604	C	T	C6021604T	IL2RA	NM_000417.2(IL2RA):c.457G>A:p.Val153Ile	coding	Benign
10	6021695	T	C	T6021695C	IL2RA	NM_000417.2(IL2RA):c.368-2A>G	noncoding	Pathogenic
10	6024232	T	A	T6024232A	IL2RA	NM_000417.2(IL2RA):c.367+12A>T	noncoding	Benign
10	6024237	C	G	C6024237G	IL2RA	NM_000417.3(IL2RA):c.367+7G>C	noncoding	Benign
10	6024310	G	A	G6024310A	IL2RA	NM_000417.2(IL2RA):c.301C>T:p.Gln101Ter	coding	Pathogenic
10	6025844	G	T	G6025844T	IL2RA	NM_000417.2(IL2RA):c.246C>A:p.Cys82Ter	coding	Pathogenic
10	6025968	T	G	T6025968G	IL2RA	NM_000417.2(IL2RA):c.122A>C:p.Tyr41Ser	coding	Pathogenic
10	6026006	C	T	C6026006T	IL2RA	NM_000417.3(IL2RA):c.84G>A:p.Pro28=	coding	Benign
10	6046780	A	T	A6046780T	IL2RA	NM_000417.2(IL2RA):c.64+15308T>A	noncoding	Benign
10	6072697	C	A	C6072697A	IL2RA	NC_000010.11:g.6072697C>A	noncoding	Pathogenic
10	6112345	C	T	C6112345T	RBM17	NM_032905.5(RBM17):c.840C>T:p.Gly280=	coding	Benign
10	6221494	C	T	C6221494T	PFKFB3	NM_004566.4(PFKFB3):c.945C>T:p.Tyr315=	coding	Benign
10	6464322	G	C	G6464322C	PRKCQ	NM_006257.5(PRKCQ):c.1436C>G:p.Ser479Cys	coding	Benign
10	6479019	C	T	C6479019T	PRKCQ	NM_006257.5(PRKCQ):c.1326G>A:p.Thr442=	coding	Benign
10	6497055	T	C	T6497055C	PRKCQ	NM_006257.5(PRKCQ):c.640A>G:p.Ile214Val	coding	Benign
10	7202472	G	A	G7202472A	SFMBT2	NM_001018039.1(SFMBT2):c.1487+8C>T	noncoding	Benign
10	7248643	C	T	C7248643T	SFMBT2	NM_001018039.1(SFMBT2):c.877G>A:p.Ala293Thr	coding	Benign
10	7586064	C	T	C7586064T	ITIH5	NM_030569.7(ITIH5):c.945G>A:p.Lys315=	coding	Benign
10	7642028	G	A	G7642028A	ITIH5	NM_030569.7(ITIH5):c.198C>T:p.Phe66=	coding	Benign
10	7964498	A	T	A7964498T	TAF3	NM_031923.4(TAF3):c.988A>T:p.Ile330Phe	coding	Benign
10	7964581	C	T	C7964581T	TAF3	NM_031923.4(TAF3):c.1071C>T:p.Ile357=	coding	Benign
10	8009249	C	T	C8009249T	TAF3	NM_031923.4(TAF3):c.2487C>T:p.Pro829=	coding	Benign
10	8055297	G	A	G8055297A	GATA3	NM_001002295.2(GATA3):c.-359G>A	noncoding	Benign
10	8055305	C	T	C8055305T	GATA3	NM_001002295.2(GATA3):c.-351C>T	noncoding	Benign
10	8055392	G	T	G8055392T	GATA3	NM_001002295.2(GATA3):c.-264G>T	noncoding	Benign
10	8055405	G	A	G8055405A	GATA3	NM_001002295.2(GATA3):c.-251G>A	noncoding	Benign
10	8055561	G	T	G8055561T	GATA3	NM_001002295.2(GATA3):c.-95G>T	noncoding	Benign
10	8055587	G	A	G8055587A	GATA3	NM_001002295.2(GATA3):c.-69G>A	noncoding	Benign
10	8055596	C	T	C8055596T	GATA3	NM_001002295.2(GATA3):c.-60C>T	noncoding	Benign
10	8055598	C	T	C8055598T	GATA3	NM_001002295.2(GATA3):c.-58C>T	noncoding	Benign
10	8055607	C	T	C8055607T	GATA3	NM_001002295.2(GATA3):c.-49C>T	noncoding	Benign
10	8055608	G	T	G8055608T	GATA3	NM_001002295.2(GATA3):c.-48G>T	noncoding	Benign/Likely_benign
10	8055871	G	T	G8055871T	GATA3	NM_001002295.2(GATA3):c.216G>T:p.Val72=	coding	Benign
10	8055904	C	T	C8055904T	GATA3	NM_001002295.2(GATA3):c.241+8C>T	noncoding	Benign
10	8058543	C	G	C8058543G	GATA3	NM_001002295.2(GATA3):c.480C>G:p.Asp160Glu	coding	Benign
10	8058636	C	T	C8058636T	GATA3	NM_001002295.2(GATA3):c.573C>T:p.Pro191=	coding	Benign/Likely_benign
10	8058669	T	C	T8058669C	GATA3	NM_001002295.2(GATA3):c.606T>C:p.Arg202=	coding	Benign
10	8058684	C	T	C8058684T	GATA3	NM_001002295.2(GATA3):c.621C>T:p.Ala207=	coding	Benign
10	8058800	G	C	G8058800C	GATA3	NM_001002295.2(GATA3):c.737G>C:p.Gly246Ala	coding	Benign/Likely_benign
10	8064004	T	A	T8064004A	GATA3	NM_001002295.2(GATA3):c.790T>A:p.Cys264Ser	coding	Pathogenic
10	8064037	T	A	T8064037A	GATA3	NM_001002295.2(GATA3):c.823T>A:p.Trp275Arg	coding	Pathogenic
10	8064043	C	T	C8064043T	GATA3	NM_001002295.2(GATA3):c.829C>T:p.Arg277Ter	coding	Pathogenic
10	8064046	G	A	G8064046A	GATA3	NM_001002295.2(GATA3):c.832G>A:p.Asp278Asn	coding	Pathogenic
10	8064054	G	C	G8064054C	GATA3	NM_001002295.2(GATA3):c.840G>C:p.Thr280=	coding	Benign/Likely_benign
10	8064084	C	T	C8064084T	GATA3	NM_001002295.2(GATA3):c.870C>T:p.Leu290=	coding	Benign
10	8069509	T	A	T8069509A	GATA3	NM_001002295.2(GATA3):c.961T>A:p.Cys321Ser	coding	Pathogenic
10	8069573	G	A	G8069573A	GATA3	NM_001002295.2(GATA3):c.1025G>A:p.Cys342Tyr	coding	Pathogenic
10	8069658	C	T	C8069658T	GATA3	NM_001002295.2(GATA3):c.1050+60C>T	noncoding	Benign
10	8073738	G	C	G8073738C	GATA3	NM_001002295.2(GATA3):c.1051-1G>C	noncoding	Pathogenic
10	8073747	A	T	A8073747T	GATA3	NM_001002295.2(GATA3):c.1059A>T:p.Arg353Ser	coding	Pathogenic
10	8073787	C	T	C8073787T	GATA3	NM_001002295.2(GATA3):c.1099C>T:p.Arg367Ter	coding	Pathogenic
10	8073867	C	T	C8073867T	GATA3	NM_001002295.2(GATA3):c.1179C>T:p.Asn393=	coding	Benign/Likely_benign
10	8073874	G	A	G8073874A	GATA3	NM_001002295.2(GATA3):c.1186G>A:p.Ala396Thr	coding	Benign
10	8073945	G	A	G8073945A	GATA3	NM_001002295.2(GATA3):c.1257G>A:p.Thr419=	coding	Benign
10	8074045	G	A	G8074045A	GATA3	NM_001002295.2(GATA3):c.*22G>A	noncoding	Benign
10	8074049	C	G	C8074049G	GATA3	NM_001002295.2(GATA3):c.*26C>G	noncoding	Benign
10	8074116	C	T	C8074116T	GATA3	NM_001002295.2(GATA3):c.*93C>T	noncoding	Benign
10	8074514	A	G	A8074514G	GATA3	NM_001002295.2(GATA3):c.*491A>G	noncoding	Benign
10	8074540	A	G	A8074540G	GATA3	NM_001002295.2(GATA3):c.*517A>G	noncoding	Benign
10	8074635	G	A	G8074635A	GATA3	NM_001002295.2(GATA3):c.*612G>A	noncoding	Benign
10	8074687	C	T	C8074687T	GATA3	NM_001002295.2(GATA3):c.*664C>T	noncoding	Benign
10	8074821	G	A	G8074821A	GATA3	NM_001002295.2(GATA3):c.*798G>A	noncoding	Benign
10	8075010	T	G	T8075010G	GATA3	NM_001002295.2(GATA3):c.*987T>G	noncoding	Benign
10	8075089	C	T	C8075089T	GATA3	NM_001002295.2(GATA3):c.*1066C>T	noncoding	Benign
10	10796888	A	T	A10796888T	CELF2	NM_001326325.2(CELF2):c.1A>T:p.Met1Leu	noncoding	Benign
10	10920008	G	A	G10920008A	CELF2	NM_001326325.2(CELF2):c.146+9G>A	noncoding	Benign
10	11852223	A	G	A11852223G	PROSER2	NM_153256.4(PROSER2):c.138+8A>G	noncoding	Benign
10	11866672	C	T	C11866672T	PROSER2	NM_153256.4(PROSER2):c.280C>T:p.Leu94=	coding	Benign
10	11870066	C	G	C11870066G	PROSER2	NM_153256.4(PROSER2):c.968C>G:p.Pro323Arg	coding	Benign
10	11870298	C	T	C11870298T	PROSER2	NM_153256.4(PROSER2):c.1200C>T:p.Ser400=	coding	Benign
10	11870337	C	T	C11870337T	PROSER2	NM_153256.4(PROSER2):c.1239C>T:p.Gly413=	coding	Benign
10	11870382	G	A	G11870382A	PROSER2	NM_153256.4(PROSER2):c.1284G>A:p.Leu428=	coding	Benign
10	11955227	T	C	T11955227C	UPF2	NM_015542.4(UPF2):c.2850+5A>G	noncoding	Benign
10	11955340	C	T	C11955340T	UPF2	NM_015542.4(UPF2):c.2742G>A:p.Glu914=	coding	Benign
10	11956529	A	T	A11956529T	UPF2	NM_015542.4(UPF2):c.2371-6T>A	noncoding	Benign
10	11959276	G	A	G11959276A	UPF2	NM_015542.4(UPF2):c.2265C>T:p.Cys755=	coding	Benign
10	12029317	A	G	A12029317G	UPF2	NM_015542.4(UPF2):c.573T>C:p.His191=	coding	Benign
10	12035070	A	G	A12035070G	UPF2	NM_015542.4(UPF2):c.354T>C:p.Ala118=	coding	Benign
10	12069034	A	G	A12069034G	DHTKD1	NM_018706.7(DHTKD1):c.1A>G:p.Met1Val	coding	Pathogenic
10	12081551	C	T	C12081551T	DHTKD1	NM_018706.7(DHTKD1):c.234C>T:p.Thr78=	coding	Benign
10	12084598	T	C	T12084598C	DHTKD1	NM_018706.7(DHTKD1):c.369T>C:p.Asn123=	coding	Benign
10	12087621	C	T	C12087621T	DHTKD1	NM_018706.7(DHTKD1):c.609C>T:p.His203=	coding	Benign
10	12089265	G	C	G12089265C	DHTKD1	NM_018706.7(DHTKD1):c.987+10G>C	noncoding	Benign
10	12091566	G	A	G12091566A	DHTKD1	NM_018706.7(DHTKD1):c.1041G>A:p.Thr347=	coding	Benign
10	12091573	A	G	A12091573G	DHTKD1	NM_018706.7(DHTKD1):c.1048A>G:p.Asn350Asp	coding	Benign/Likely_benign
10	12094141	C	T	C12094141T	DHTKD1	NM_018706.7(DHTKD1):c.1228C>T:p.Arg410Ter	coding	Pathogenic
10	12094197	G	A	G12094197A	DHTKD1	NM_018706.7(DHTKD1):c.1284G>A:p.Leu428=	coding	Benign
10	12094222	G	T	G12094222T	DHTKD1	NM_018706.7(DHTKD1):c.1309G>T:p.Glu437Ter	coding	Pathogenic
10	12097732	C	A	C12097732A	DHTKD1	NM_018706.7(DHTKD1):c.1407C>A:p.Gly469=	coding	Benign
10	12097780	T	G	T12097780G	DHTKD1	NM_018706.7(DHTKD1):c.1455T>G:p.Tyr485Ter	coding	Pathogenic
10	12097875	C	T	C12097875T	DHTKD1	NM_018706.7(DHTKD1):c.1550C>T:p.Ala517Val	coding	Benign/Likely_benign
10	12097966	G	A	G12097966A	DHTKD1	NM_018706.7(DHTKD1):c.1641G>A:p.Met547Ile	coding	Benign
10	12107982	C	A	C12107982A	DHTKD1	NM_018706.7(DHTKD1):c.2121C>A:p.Asp707Glu	coding	Benign
10	12107995	C	T	C12107995T	DHTKD1	NM_018706.7(DHTKD1):c.2134C>T:p.Arg712Ter	coding	Pathogenic
10	12112929	C	T	C12112929T	DHTKD1	NM_018706.7(DHTKD1):c.2184C>T:p.Asp728=	coding	Benign
10	12117756	G	C	G12117756C	DHTKD1	NM_018706.7(DHTKD1):c.2402+1G>C	coding	Benign
10	12117765	G	C	G12117765C	DHTKD1	NM_018706.7(DHTKD1):c.2402+10G>C	noncoding	Benign
10	12118869	C	T	C12118869T	DHTKD1	NM_018706.7(DHTKD1):c.2523C>T:p.Phe841=	coding	Benign
10	12230999	A	C	A12230999C	CDC123	NM_006023.3(CDC123):c.489+3A>C	noncoding	Benign
10	12249577	A	G	A12249577G	CDC123	NM_006023.3(CDC123):c.847-4A>G	noncoding	Benign
10	12553330	A	G	A12553330G	CAMK1D	NM_153498.4(CAMK1D):c.198A>G:p.Ile66Met	coding	Benign
10	12760972	C	T	C12760972T	CAMK1D	NM_153498.4(CAMK1D):c.324C>T:p.Asp108=	coding	Benign
10	13100087	G	T	G13100087T	OPTN	NM_001008211.1(OPTN):c.-448G>T	noncoding	Benign
10	13100153	T	C	T13100153C	OPTN	NM_001008211.1(OPTN):c.-382T>C	noncoding	Benign
10	13100192	C	A	C13100192A	OPTN	NM_001008212.2(OPTN):c.-274C>A	noncoding	Benign
10	13100211	C	G	C13100211G	OPTN	NM_001008212.2(OPTN):c.-255C>G	noncoding	Benign
10	13100251	G	A	G13100251A	OPTN	NM_001008212.2(OPTN):c.-215G>A	noncoding	Benign
10	13100315	A	G	A13100315G	OPTN	NM_001008212.2(OPTN):c.-164+13A>G	noncoding	Benign/Likely_benign
10	13109224	G	A	G13109224A	OPTN	NM_001008212.2(OPTN):c.102G>A:p.Thr34=	coding	Benign
10	13109245	G	A	G13109245A	OPTN	NM_001008212.2(OPTN):c.123G>A:p.Leu41=	coding	Benign
10	13109269	C	T	C13109269T	OPTN	NM_001008212.2(OPTN):c.147C>T:p.Thr49=	coding	Benign/Likely_benign
10	13109270	G	A	G13109270A	OPTN	NM_001008212.2(OPTN):c.148G>A:p.Glu50Lys	coding	Pathogenic
10	13110400	T	A	T13110400A	OPTN	NM_001008212.2(OPTN):c.293T>A:p.Met98Lys	coding	Benign/Likely_benign
10	13112485	C	A	C13112485A	OPTN	NM_001008212.2(OPTN):c.402C>A:p.Ala134=	coding	Benign
10	13116257	G	A	G13116257A	OPTN	NM_001008212.2(OPTN):c.553-10G>A	noncoding	Benign
10	13116262	C	T	C13116262T	OPTN	NM_001008212.2(OPTN):c.553-5C>T	noncoding	Benign
10	13118878	T	C	T13118878C	OPTN	NM_001008212.2(OPTN):c.627-10T>C	noncoding	Benign
10	13124076	G	A	G13124076A	OPTN	NM_001008212.2(OPTN):c.964G>A:p.Glu322Lys	coding	Benign
10	13125989	C	T	C13125989T	OPTN	NM_001008212.2(OPTN):c.1192C>T:p.Gln398Ter	coding	Pathogenic
10	13132098	A	G	A13132098G	OPTN	NM_001008212.2(OPTN):c.1433A>G:p.Glu478Gly	coding	Pathogenic
10	13133591	G	A	G13133591A	OPTN	NM_001008212.2(OPTN):c.1612+10G>A	noncoding	Benign
10	13136697	C	A	C13136697A	OPTN	NM_001008212.2(OPTN):c.1613-48C>A	noncoding	Benign
10	13137428	T	G	T13137428G	OPTN	NM_001008212.2(OPTN):c.*562T>G	noncoding	Benign/Likely_benign
10	13138287	T	G	T13138287G	OPTN	NM_001008212.2(OPTN):c.*1421T>G	noncoding	Benign
10	13170915	C	A	C13170915A	MCM10	NM_018518.5(MCM10):c.8-7C>A	noncoding	Benign
10	13180508	T	C	T13180508C	MCM10	NM_182751.3(MCM10):c.834T>C:p.Ser278=	coding	Benign
10	13192328	G	A	G13192328A	MCM10	NM_018518.5(MCM10):c.1590G>A:p.Arg530=	coding	Benign
10	13192360	C	T	C13192360T	MCM10	NM_182751.3(MCM10):c.1625C>T:p.Ala542Val	coding	Benign
10	13195101	C	T	C13195101T	MCM10	NM_018518.5(MCM10):c.1806C>T:p.Pro602=	coding	Benign
10	13233764	A	G	A13233764G	UCMA	NM_145314.3(UCMA):c.95T>C:p.Met32Thr	coding	Benign
10	13278236	C	T	C13278236T	PHYH	NM_006214.4(PHYH):c.*65G>A	noncoding	Benign
10	13281099	G	T	G13281099T	PHYH	NM_006214.4(PHYH):c.840C>A:p.Cys280Ter	coding	Pathogenic
10	13281109	G	T	G13281109T	PHYH	NM_006214.4(PHYH):c.830C>A:p.Ala277Glu	coding	Pathogenic
10	13283694	C	T	C13283694T	PHYH	NM_006214.4(PHYH):c.824G>A:p.Arg275Gln	coding	Pathogenic
10	13283695	G	A	G13283695A	PHYH	NM_006214.4(PHYH):c.823C>T:p.Arg275Trp	coding	Pathogenic/Likely_pathogenic
10	13283713	T	G	T13283713G	PHYH	NM_006214.4(PHYH):c.805A>C:p.Asn269His	coding	Pathogenic
10	13283801	G	A	G13283801A	PHYH	NM_006214.4(PHYH):c.717C>T:p.Tyr239=	coding	Benign/Likely_benign
10	13288395	C	T	C13288395T	PHYH	NM_006214.4(PHYH):c.643G>A:p.Gly215Ser	coding	Benign
10	13288402	T	C	T13288402C	PHYH	NM_006214.4(PHYH):c.636A>G:p.Thr212=	coding	Benign
10	13288428	C	T	C13288428T	PHYH	NM_006214.4(PHYH):c.610G>A:p.Gly204Ser	coding	Pathogenic
10	13288508	T	C	T13288508C	PHYH	NM_006214.4(PHYH):c.530A>G:p.Asp177Gly	coding	Pathogenic
10	13288512	G	T	G13288512T	PHYH	NM_006214.4(PHYH):c.526C>A:p.Gln176Lys	coding	Pathogenic
10	13294521	C	T	C13294521T	PHYH	NM_006214.4(PHYH):c.321G>A:p.Ser107=	coding	Benign/Likely_benign
10	13295506	G	A	G13295506A	PHYH	NM_006214.4(PHYH):c.235C>T:p.Gln79Ter	coding	Pathogenic
10	13295588	G	A	G13295588A	PHYH	NM_006214.4(PHYH):c.153C>T:p.Asn51=	coding	Benign
10	13295607	C	G	C13295607G	PHYH	NM_006214.4(PHYH):c.135-1G>C	coding	Pathogenic
10	13295608	T	C	T13295608C	PHYH	NM_006214.4(PHYH):c.135-2A>G	noncoding	Pathogenic/Likely_pathogenic
10	13298195	T	C	T13298195C	PHYH	NM_006214.4(PHYH):c.126A>G:p.Gln42=	coding	Benign/Likely_benign
10	13298236	G	A	G13298236A	PHYH	NM_006214.4(PHYH):c.85C>T:p.Pro29Ser	coding	Benign
10	13344754	C	T	C13344754T	SEPHS1	NM_012247.5(SEPHS1):c.193+4G>A	noncoding	Benign
10	13651960	T	A	T13651960A	FRMD4A	NM_018027.5(FRMD4A):c.3065A>T:p.Asn1022Ile	coding	Benign
10	13656928	G	A	G13656928A	FRMD4A	NM_018027.5(FRMD4A):c.2661C>T:p.Gly887=	coding	Benign
10	13660307	G	A	G13660307A	FRMD4A	NM_018027.5(FRMD4A):c.1898+9C>T	noncoding	Benign
10	13660435	C	T	C13660435T	FRMD4A	NM_018027.5(FRMD4A):c.1779G>A:p.Gln593=	coding	Benign
10	13660521	G	A	G13660521A	FRMD4A	NM_018027.5(FRMD4A):c.1693C>T:p.Leu565=	coding	Benign
10	13666172	T	C	T13666172C	FRMD4A	NM_018027.5(FRMD4A):c.1528A>G:p.Ile510Val	coding	Benign
10	13737898	C	T	C13737898T	FRMD4A	NM_018027.5(FRMD4A):c.705G>A:p.Leu235=	coding	Benign
10	13782943	G	A	G13782943A	FRMD4A	NM_018027.5(FRMD4A):c.363C>T:p.Asn121=	coding	Benign
10	13810915	G	A	G13810915A	FRMD4A	NM_018027.5(FRMD4A):c.112-7C>T	noncoding	Benign
10	14521300	G	C	G14521300C	FAM107B	NM_031453.3(FAM107B):c.811C>G:p.Leu271Val	coding	Benign
10	14667659	G	A	G14667659A	FAM107B	NM_031453.3(FAM107B):c.444C>T:p.Leu148=	coding	Benign
10	14774316	C	T	C14774316T	FAM107B	NM_031453.3(FAM107B):c.348G>A:p.Ala116=	coding	Benign
10	14820043	A	G	A14820043G	CDNF	NM_001029954.3(CDNF):c.501T>C:p.Tyr167=	coding	Benign
10	14820141	C	A	C14820141A	CDNF	NM_001029954.3(CDNF):c.403G>T:p.Ala135Ser	coding	Benign
10	14867256	T	C	T14867256C	HSPA14	NM_016299.4(HSPA14):c.1167T>C:p.Ser389=	coding	Benign
10	14899533	G	C	G14899533C	SUV39H2	NM_001193424.2(SUV39H2):c.850-6G>C	noncoding	Benign
10	14907283	A	G	A14907283G	DCLRE1C	NM_001033855.3(DCLRE1C):c.*1125T>C	noncoding	Benign
10	14907433	C	T	C14907433T	DCLRE1C	NM_001033855.3(DCLRE1C):c.*975G>A	noncoding	Benign
10	14907560	T	C	T14907560C	DCLRE1C	NM_001033855.3(DCLRE1C):c.*848A>G	noncoding	Benign
10	14907616	T	G	T14907616G	DCLRE1C	NM_001033855.3(DCLRE1C):c.*792A>C	noncoding	Benign
10	14907656	A	G	A14907656G	DCLRE1C	NM_001033855.3(DCLRE1C):c.*752T>C	noncoding	Benign
10	14908486	T	C	T14908486C	DCLRE1C	NM_001033855.3(DCLRE1C):c.2001A>G:p.Leu667=	coding	Benign/Likely_benign
10	14908593	C	T	C14908593T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1894G>A:p.Glu632Lys	coding	Benign/Likely_benign
10	14908594	G	A	G14908594A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1893C>T:p.Pro631=	coding	Benign/Likely_benign
10	14908696	G	A	G14908696A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1791C>T:p.Cys597=	coding	Benign
10	14908942	T	C	T14908942C	DCLRE1C	NM_001033855.3(DCLRE1C):c.1545A>G:p.Gly515=	coding	Benign/Likely_benign
10	14908984	A	G	A14908984G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1503T>C:p.Asp501=	coding	Benign
10	14909172	C	A	C14909172A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1315G>T:p.Glu439Ter	coding	Pathogenic
10	14909222	G	T	G14909222T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1265C>A:p.Ser422Ter	coding	Pathogenic
10	14923034	G	A	G14923034A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1008C>T:p.Asn336=	coding	Benign
10	14926842	C	G	C14926842G	DCLRE1C	NM_001033855.3(DCLRE1C):c.972+1G>C	noncoding	Pathogenic
10	14926856	G	C	G14926856C	DCLRE1C	NM_001033855.3(DCLRE1C):c.959C>G:p.Ser320Cys	coding	Benign
10	14928015	C	T	C14928015T	DCLRE1C	NM_001033855.3(DCLRE1C):c.917+1G>A	noncoding	Pathogenic
10	14932844	G	A	G14932844A	DCLRE1C	NM_001033855.3(DCLRE1C):c.780+10C>T	noncoding	Benign
10	14932880	G	A	G14932880A	DCLRE1C	NM_001033855.3(DCLRE1C):c.754C>T:p.Gln252Ter	coding	Pathogenic
10	14932906	T	C	T14932906C	DCLRE1C	NM_001033855.3(DCLRE1C):c.728A>G:p.His243Arg	coding	Benign
10	14934415	G	A	G14934415A	DCLRE1C	NM_001033855.3(DCLRE1C):c.643C>T:p.Leu215=	coding	Benign
10	14934461	G	T	G14934461T	DCLRE1C	NM_001033855.3(DCLRE1C):c.597C>A:p.Tyr199Ter	coding	Pathogenic
10	14934718	G	C	G14934718C	DCLRE1C	NM_001033855.3(DCLRE1C):c.522C>G:p.Tyr174Ter	coding	Pathogenic
10	14934728	G	C	G14934728C	DCLRE1C	NM_001033855.3(DCLRE1C):c.512C>G:p.Pro171Arg	coding	Benign
10	14935462	C	T	C14935462T	DCLRE1C	NM_001033855.3(DCLRE1C):c.464+1G>A	noncoding	Pathogenic
10	14935470	C	T	C14935470T	DCLRE1C	NM_001033855.3(DCLRE1C):c.457G>A:p.Gly153Arg	coding	Benign/Likely_benign
10	14936537	C	A	C14936537A	DCLRE1C	NM_001033855.3(DCLRE1C):c.362+1G>T	noncoding	Pathogenic
10	14936548	C	A	C14936548A	DCLRE1C	NM_001033855.3(DCLRE1C):c.352G>T:p.Gly118Ter	coding	Pathogenic
10	14945110	G	A	G14945110A	DCLRE1C	NM_001033855.3(DCLRE1C):c.241C>T:p.Arg81Ter	coding	Pathogenic
10	14945124	C	G	C14945124G	DCLRE1C	NM_001033855.3(DCLRE1C):c.227G>C:p.Arg76Thr	coding	Benign/Likely_benign
10	14945145	A	T	A14945145T	DCLRE1C	NM_001033855.3(DCLRE1C):c.206T>A:p.Leu69Ter	coding	Pathogenic
10	14945157	G	A	G14945157A	DCLRE1C	NM_001033855.3(DCLRE1C):c.194C>T:p.Thr65Ile	coding	Pathogenic
10	14953901	C	A	C14953901A	DCLRE1C	NM_001033855.3(DCLRE1C):c.109+1G>T	noncoding	Pathogenic
10	14953975	T	G	T14953975G	DCLRE1C	NM_001033855.3(DCLRE1C):c.36A>C:p.Pro12=	coding	Benign/Likely_benign
10	14954009	A	G	A14954009G	DCLRE1C	NM_001033855.3(DCLRE1C):c.2T>C:p.Met1Thr	coding	Pathogenic
10	15104080	T	C	T15104080C	RPP38	NM_183005.5(RPP38):c.766T>C:p.Leu256=	coding	Benign
10	15531048	A	G	A15531048G	ITGA8	NM_003638.3(ITGA8):c.2982+2T>C	noncoding	Pathogenic
10	15531055	T	C	T15531055C	ITGA8	NM_003638.3(ITGA8):c.2977A>G:p.Ile993Val	coding	Benign
10	15548532	C	T	C15548532T	ITGA8	NM_003638.3(ITGA8):c.2803G>A:p.Ala935Thr	coding	Benign
10	15575484	G	A	G15575484A	ITGA8	NM_003638.3(ITGA8):c.2478+5C>T	noncoding	Benign
10	15586604	T	C	T15586604C	ITGA8	NM_003638.3(ITGA8):c.2352A>G:p.Val784=	coding	Benign
10	15592273	C	T	C15592273T	ITGA8	NM_003638.3(ITGA8):c.2243G>A:p.Arg748His	coding	Benign
10	15604226	T	C	T15604226C	ITGA8	NM_003638.3(ITGA8):c.2100A>G:p.Gly700=	coding	Benign
10	15605758	G	A	G15605758A	ITGA8	NM_003638.3(ITGA8):c.1936C>T:p.Leu646=	coding	Benign
10	15644210	C	T	C15644210T	ITGA8	NM_003638.3(ITGA8):c.1219G>A:p.Gly407Arg	coding	Pathogenic
10	15659026	C	T	C15659026T	ITGA8	NM_003638.3(ITGA8):c.921G>A:p.Thr307=	coding	Benign
10	15659046	T	A	T15659046A	ITGA8	NM_003638.3(ITGA8):c.901A>T:p.Ile301Phe	coding	Benign
10	15672703	T	G	T15672703G	ITGA8	NM_003638.3(ITGA8):c.723A>C:p.Ser241=	coding	Benign
10	15677605	A	G	A15677605G	ITGA8	NM_003638.3(ITGA8):c.663T>C:p.Ser221=	coding	Benign
10	15677622	C	G	C15677622G	ITGA8	NM_003638.3(ITGA8):c.646G>C:p.Val216Leu	coding	Benign
10	15684089	C	T	C15684089T	ITGA8	NM_003638.3(ITGA8):c.483G>A:p.Pro161=	coding	Benign
10	15718779	C	T	C15718779T	ITGA8	NM_003638.3(ITGA8):c.330G>A:p.Pro110=	coding	Benign
10	15779079	A	G	A15779079G	MINDY3	NM_024948.4(MINDY3):c.1251T>C:p.Asp417=	coding	Benign
10	15786653	G	A	G15786653A	MINDY3	NM_024948.4(MINDY3):c.1029-5C>T	noncoding	Benign
10	16484555	A	G	A16484555G	PTER	NM_001001484.2(PTER):c.171A>G:p.Leu57=	coding	Benign
10	16486355	A	G	A16486355G	PTER	NM_001001484.2(PTER):c.436A>G:p.Thr146Ala	coding	Benign
10	16486579	C	T	C16486579T	PTER	NM_001001484.2(PTER):c.660C>T:p.Gly220=	coding	Benign
10	16520610	G	A	G16520610A	C1QL3	NM_001010908.2(C1QL3):c.456C>T:p.Leu152=	coding	Benign
10	16824374	T	C	T16824374C	CUBN	NM_001081.3(CUBN):c.*601A>G	noncoding	Benign
10	16824824	C	T	C16824824T	CUBN	NM_001081.3(CUBN):c.*151G>A	noncoding	Benign
10	16824841	C	T	C16824841T	CUBN	NM_001081.3(CUBN):c.*134G>A	noncoding	Benign
10	16824882	G	T	G16824882T	CUBN	NM_001081.3(CUBN):c.*93C>A	noncoding	Benign
10	16824930	G	A	G16824930A	CUBN	NM_001081.3(CUBN):c.*45C>T	noncoding	Benign
10	16828810	C	T	C16828810T	CUBN	NM_001081.3(CUBN):c.10759G>A:p.Gly3587Arg	coding	Benign/Likely_benign
10	16828913	G	A	G16828913A	CUBN	NM_001081.4(CUBN):c.10656C>T:p.Asn3552=	coding	Benign
10	16828913	G	T	G16828913T	CUBN	NM_001081.3(CUBN):c.10656C>A:p.Asn3552Lys	coding	Benign
10	16831397	G	A	G16831397A	CUBN	NM_001081.3(CUBN):c.10383C>T:p.Ser3461=	coding	Benign/Likely_benign
10	16835081	G	C	G16835081C	CUBN	NM_001081.3(CUBN):c.10295C>G:p.Thr3432Ser	coding	Benign
10	16835089	C	T	C16835089T	CUBN	NM_001081.4(CUBN):c.10287G>A:p.Gln3429=	coding	Benign
10	16835109	C	T	C16835109T	CUBN	NM_001081.3(CUBN):c.10267G>A:p.Val3423Ile	coding	Benign/Likely_benign
10	16835111	G	A	G16835111A	CUBN	NM_001081.3(CUBN):c.10265C>T:p.Thr3422Ile	coding	Benign
10	16835131	G	T	G16835131T	CUBN	NM_001081.4(CUBN):c.10245C>A:p.Tyr3415Ter	coding	Pathogenic
10	16836376	C	T	C16836376T	CUBN	NM_001081.3(CUBN):c.10039G>A:p.Gly3347Arg	coding	Benign
10	16840375	C	T	C16840375T	CUBN	NM_001081.4(CUBN):c.9987G>A:p.Ser3329=	coding	Benign
10	16840376	G	A	G16840376A	CUBN	NM_001081.3(CUBN):c.9986C>T:p.Ser3329Leu	coding	Benign
10	16840519	T	C	T16840519C	CUBN	NM_001081.3(CUBN):c.9843A>G:p.Thr3281=	coding	Benign
10	16851333	T	C	T16851333C	CUBN	NM_001081.3(CUBN):c.9565A>G:p.Ile3189Val	coding	Benign/Likely_benign
10	16851407	G	C	G16851407C	CUBN	NM_001081.3(CUBN):c.9491C>G:p.Ser3164Trp	coding	Benign
10	16869750	C	T	C16869750T	CUBN	NM_001081.3(CUBN):c.9340G>A:p.Gly3114Ser	coding	Benign
10	16874403	G	T	G16874403T	CUBN	NM_001081.4(CUBN):c.9207C>A:p.Thr3069=	coding	Benign
10	16874404	G	A	G16874404A	CUBN	NM_001081.4(CUBN):c.9206C>T:p.Thr3069Ile	coding	Benign
10	16874406	G	A	G16874406A	CUBN	NM_001081.4(CUBN):c.9204C>T:p.Ile3068=	coding	Benign
10	16874485	T	C	T16874485C	CUBN	NM_001081.4(CUBN):c.9125A>G:p.Asn3042Ser	coding	Benign/Likely_benign
10	16876973	A	G	A16876973G	CUBN	NM_001081.3(CUBN):c.9030T>C:p.Ala3010=	coding	Benign
10	16876998	T	C	T16876998C	CUBN	NM_001081.3(CUBN):c.9005A>G:p.Glu3002Gly	coding	Benign
10	16877035	C	T	C16877035T	CUBN	NM_001081.3(CUBN):c.8968G>A:p.Val2990Ile	coding	Benign/Likely_benign
10	16877053	T	C	T16877053C	CUBN	NM_001081.3(CUBN):c.8950A>G:p.Ile2984Val	coding	Benign
10	16877082	G	A	G16877082A	CUBN	NM_001081.3(CUBN):c.8921C>T:p.Thr2974Met	coding	Benign
10	16888280	A	T	A16888280T	CUBN	NM_001081.3(CUBN):c.8905+137T>A	noncoding	Benign
10	16888420	C	G	C16888420G	CUBN	NM_001081.3(CUBN):c.8902G>C:p.Glu2968Gln	coding	Benign
10	16890385	G	A	G16890385A	CUBN	NM_001081.3(CUBN):c.8741C>T:p.Ala2914Val	coding	Benign
10	16890455	C	T	C16890455T	CUBN	NM_001081.3(CUBN):c.8671G>A:p.Val2891Ile	coding	Benign
10	16890491	G	T	G16890491T	CUBN	NM_001081.3(CUBN):c.8635C>A:p.Leu2879Ile	coding	Benign
10	16900642	C	T	C16900642T	CUBN	NM_001081.4(CUBN):c.8393G>A:p.Trp2798Ter	coding	Pathogenic
10	16901372	G	C	G16901372C	CUBN	NM_001081.3(CUBN):c.8150C>G:p.Ser2717Trp	coding	Benign
10	16901383	G	T	G16901383T	CUBN	NM_001081.3(CUBN):c.8139C>A:p.Thr2713=	coding	Benign
10	16904073	G	T	G16904073T	CUBN	NM_001081.3(CUBN):c.7955C>A:p.Ser2652Ter	coding	Pathogenic
10	16904126	T	C	T16904126C	CUBN	NM_001081.3(CUBN):c.7913-11A>G	noncoding	Benign
10	16906209	G	A	G16906209A	CUBN	NM_001081.3(CUBN):c.7906C>T:p.Arg2636Ter	coding	Pathogenic
10	16906247	T	G	T16906247G	CUBN	NM_001081.3(CUBN):c.7868A>C:p.Glu2623Ala	coding	Benign
10	16906391	G	C	G16906391C	CUBN	NM_001081.3(CUBN):c.7724C>G:p.Pro2575Arg	coding	Benign
10	16906413	A	G	A16906413G	CUBN	NM_001081.4(CUBN):c.7706-4T>C	noncoding	Benign
10	16907551	T	C	T16907551C	CUBN	NM_001081.3(CUBN):c.7662A>G:p.Pro2554=	coding	Benign
10	16913979	A	T	A16913979T	CUBN	NM_001081.3(CUBN):c.7365T>A:p.Asp2455Glu	coding	Benign/Likely_benign
10	16915037	A	G	A16915037G	CUBN	NM_001081.3(CUBN):c.7346T>C:p.Met2449Thr	coding	Benign
10	16915053	G	A	G16915053A	CUBN	NM_001081.4(CUBN):c.7330C>T:p.Arg2444Ter	coding	Pathogenic
10	16915936	C	T	C16915936T	CUBN	NM_001081.4(CUBN):c.7095G>A:p.Trp2365Ter	coding	Pathogenic
10	16918625	T	C	T16918625C	CUBN	NM_001081.3(CUBN):c.6997A>G:p.Ile2333Val	coding	Benign
10	16918684	T	A	T16918684A	CUBN	NM_001081.3(CUBN):c.6938A>T:p.Tyr2313Phe	coding	Benign
10	16918698	T	A	T16918698A	CUBN	NM_001081.3(CUBN):c.6924A>T:p.Ser2308=	coding	Benign
10	16919996	A	C	A16919996C	CUBN	NM_001081.3(CUBN):c.6788T>G:p.Phe2263Cys	coding	Benign
10	16925326	C	T	C16925326T	CUBN	NM_001081.3(CUBN):c.6561G>A:p.Ser2187=	coding	Benign
10	16925402	C	T	C16925402T	CUBN	NM_001081.3(CUBN):c.6485G>A:p.Cys2162Tyr	coding	Benign
10	16925418	T	C	T16925418C	CUBN	NM_001081.4(CUBN):c.6469A>G:p.Asn2157Asp	coding	Benign/Likely_benign
10	16925587	C	G	C16925587G	CUBN	NM_001081.3(CUBN):c.6459G>C:p.Leu2153Phe	coding	Benign
10	16925770	G	A	G16925770A	CUBN	NM_001081.3(CUBN):c.6276C>T:p.Cys2092=	coding	Benign/Likely_benign
10	16928203	C	T	C16928203T	CUBN	NM_001081.3(CUBN):c.6225G>A:p.Ser2075=	coding	Benign
10	16933079	G	A	G16933079A	CUBN	NM_001081.3(CUBN):c.6124+8C>T	noncoding	Benign
10	16933122	C	T	C16933122T	CUBN	NM_001081.3(CUBN):c.6089G>A:p.Arg2030Gln	coding	Benign/Likely_benign
10	16933172	G	A	G16933172A	CUBN	NM_001081.4(CUBN):c.6039C>T:p.Pro2013=	coding	Benign
10	16937594	G	A	G16937594A	CUBN	NM_001081.3(CUBN):c.5924C>T:p.Pro1975Leu	coding	Benign
10	16937607	G	T	G16937607T	CUBN	NM_001081.3(CUBN):c.5911C>A:p.Pro1971Thr	coding	Benign
10	16937662	T	C	T16937662C	CUBN	NM_001081.3(CUBN):c.5856A>G:p.Ser1952=	coding	Benign
10	16937715	T	C	T16937715C	CUBN	NM_001081.3(CUBN):c.5803A>G:p.Ser1935Gly	coding	Benign
10	16939016	T	C	T16939016C	CUBN	NM_001081.3(CUBN):c.5680A>G:p.Ile1894Val	coding	Benign/Likely_benign
10	16940050	G	A	G16940050A	CUBN	NM_001081.3(CUBN):c.5530C>T:p.Gln1844Ter	coding	Pathogenic
10	16940062	C	T	C16940062T	CUBN	NM_001081.3(CUBN):c.5518G>A:p.Gly1840Ser	coding	Benign
10	16940152	G	A	G16940152A	CUBN	NM_001081.3(CUBN):c.5428C>T:p.Arg1810Ter	coding	Pathogenic
10	16940245	G	T	G16940245T	CUBN	NM_001081.3(CUBN):c.5343-8C>A	noncoding	Benign
10	16947272	C	T	C16947272T	CUBN	NM_001081.3(CUBN):c.5305G>A:p.Val1769Ile	coding	Benign
10	16947273	G	A	G16947273A	CUBN	NM_001081.3(CUBN):c.5304C>T:p.Ile1768=	coding	Benign
10	16947374	G	C	G16947374C	CUBN	NM_001081.4(CUBN):c.5210-7C>G	noncoding	Benign
10	16948553	G	A	G16948553A	CUBN	NM_001081.3(CUBN):c.5134C>T:p.Leu1712=	coding	Benign
10	16948589	C	T	C16948589T	CUBN	NM_001081.3(CUBN):c.5098G>A:p.Asp1700Asn	coding	Benign
10	16950070	T	G	T16950070G	CUBN	NM_001081.4(CUBN):c.5011A>C:p.Arg1671=	coding	Benign
10	16952373	G	A	G16952373A	CUBN	NM_001081.3(CUBN):c.4872C>T:p.Ile1624=	coding	Benign
10	16982504	G	A	G16982504A	CUBN	NM_001081.3(CUBN):c.4675C>T:p.Pro1559Ser	coding	Benign
10	16982508	A	C	A16982508C	CUBN	NM_001081.4(CUBN):c.4671T>G:p.Leu1557=	coding	Benign
10	16982616	A	T	A16982616T	CUBN	NM_001081.3(CUBN):c.4563T>A:p.Ile1521=	coding	Benign
10	16984160	G	A	G16984160A	CUBN	NM_001081.4(CUBN):c.4470C>T:p.Thr1490=	coding	Benign
10	16984171	G	A	G16984171A	CUBN	NM_001081.3(CUBN):c.4459C>T:p.Arg1487Ter	coding	Pathogenic
10	16990472	G	A	G16990472A	CUBN	NM_001081.4(CUBN):c.4212C>T:p.Ser1404=	coding	Benign
10	16990484	G	A	G16990484A	CUBN	NM_001081.4(CUBN):c.4200C>T:p.Gly1400=	coding	Benign/Likely_benign
10	17041160	G	A	G17041160A	CUBN	NM_001081.3(CUBN):c.3890C>T:p.Pro1297Leu	coding	Pathogenic/Likely_pathogenic
10	17043904	C	G	C17043904G	CUBN	NM_001081.3(CUBN):c.3752G>C:p.Ser1251Thr	coding	Benign
10	17045133	C	T	C17045133T	CUBN	NM_001081.4(CUBN):c.3546G>A:p.Pro1182=	coding	Benign
10	17045157	G	A	G17045157A	CUBN	NM_001081.3(CUBN):c.3522C>T:p.Gly1174=	coding	Benign
10	17046007	T	C	T17046007C	CUBN	NM_001081.3(CUBN):c.3417A>G:p.Leu1139=	coding	Benign
10	17046089	C	T	C17046089T	CUBN	NM_001081.4(CUBN):c.3335G>A:p.Gly1112Glu	coding	Pathogenic
10	17047413	C	A	C17047413A	CUBN	NM_001081.3(CUBN):c.3329+1G>T	noncoding	Pathogenic
10	17047451	C	A	C17047451A	CUBN	NM_001081.4(CUBN):c.3292G>T:p.Ala1098Ser	coding	Benign
10	17068286	G	C	G17068286C	CUBN	NM_001081.4(CUBN):c.2792-6C>G	noncoding	Benign
10	17068475	C	T	C17068475T	CUBN	NM_001081.3(CUBN):c.2791+130G>A	noncoding	Benign
10	17068591	G	A	G17068591A	CUBN	NM_001081.3(CUBN):c.2791+14C>T	noncoding	Benign
10	17068596	G	A	G17068596A	CUBN	NM_001081.3(CUBN):c.2791+9C>T	noncoding	Benign
10	17068599	T	G	T17068599G	CUBN	NM_001081.3(CUBN):c.2791+6A>C	noncoding	Benign
10	17071457	C	T	C17071457T	CUBN	NM_001081.3(CUBN):c.2594G>A:p.Ser865Asn	coding	Benign/Likely_benign
10	17071480	G	A	G17071480A	CUBN	NM_001081.3(CUBN):c.2571C>T:p.Asn857=	coding	Benign
10	17071564	C	T	C17071564T	CUBN	NM_001081.4(CUBN):c.2487G>A:p.Ser829=	coding	Benign
10	17071828	G	A	G17071828A	CUBN	NM_001081.3(CUBN):c.2445C>T:p.Val815=	coding	Benign
10	17071968	G	A	G17071968A	CUBN	NM_001081.4(CUBN):c.2305C>T:p.Arg769Ter	coding	Pathogenic
10	17084384	G	A	G17084384A	CUBN	NM_001081.3(CUBN):c.2188C>T:p.His730Tyr	coding	Benign
10	17084390	A	G	A17084390G	CUBN	NM_001081.3(CUBN):c.2182T>C:p.Phe728Leu	coding	Benign/Likely_benign
10	17085604	T	C	T17085604C	CUBN	NM_001081.4(CUBN):c.2103A>G:p.Thr701=	coding	Benign
10	17085691	C	T	C17085691T	CUBN	NM_001081.3(CUBN):c.2016G>A:p.Pro672=	coding	Benign/Likely_benign
10	17088155	A	T	A17088155T	CUBN	NM_001081.4(CUBN):c.1947+9T>A	noncoding	Benign
10	17088200	G	A	G17088200A	CUBN	NM_001081.3(CUBN):c.1911C>T:p.Leu637=	coding	Benign
10	17088317	G	A	G17088317A	CUBN	NM_001081.3(CUBN):c.1794C>T:p.Tyr598=	coding	Benign/Likely_benign
10	17103149	C	T	C17103149T	CUBN	NM_001081.3(CUBN):c.1506G>A:p.Trp502Ter	coding	Pathogenic
10	17103185	C	T	C17103185T	CUBN	NM_001081.4(CUBN):c.1470G>A:p.Pro490=	coding	Benign/Likely_benign
10	17104591	A	G	A17104591G	CUBN	NM_001081.3(CUBN):c.1245T>C:p.Gly415=	coding	Benign
10	17105522	G	T	G17105522T	CUBN	NM_001081.3(CUBN):c.1165C>A:p.Pro389Thr	coding	Benign
10	17110924	G	A	G17110924A	CUBN	NM_001081.4(CUBN):c.1010C>T:p.Pro337Leu	coding	Pathogenic
10	17110931	C	T	C17110931T	CUBN	NM_001081.3(CUBN):c.1003G>A:p.Ala335Thr	coding	Benign
10	17110971	G	A	G17110971A	CUBN	NM_001081.3(CUBN):c.963C>T:p.Pro321=	coding	Benign
10	17110995	G	A	G17110995A	CUBN	NM_001081.3(CUBN):c.939C>T:p.Asn313=	coding	Benign
10	17111024	C	T	C17111024T	CUBN	NM_001081.3(CUBN):c.910G>A:p.Glu304Lys	coding	Benign
10	17114152	A	G	A17114152G	CUBN	NM_001081.3(CUBN):c.758T>C:p.Phe253Ser	coding	Benign
10	17115488	G	A	G17115488A	CUBN	NM_001081.4(CUBN):c.703C>T:p.Arg235Ter	coding	Pathogenic
10	17115534	C	T	C17115534T	CUBN	NM_001081.4(CUBN):c.657G>A:p.Gly219=	coding	Benign
10	17115573	G	A	G17115573A	CUBN	NM_001081.3(CUBN):c.618C>T:p.Tyr206=	coding	Benign
10	17122872	G	A	G17122872A	CUBN	NM_001081.3(CUBN):c.516C>T:p.Asn172=	coding	Benign
10	17129177	C	T	C17129177T	CUBN	NM_001081.3(CUBN):c.196G>A:p.Gly66Arg	coding	Benign
10	17129657	T	G	T17129657G	CUBN	NM_001081.3(CUBN):c.109A>C:p.Ile37Leu	coding	Benign
10	17157650	A	C	A17157650C	TRDMT1	NM_004412.7(TRDMT1):c.678T>G:p.Asp226Glu	coding	Benign
10	17157781	G	A	G17157781A	TRDMT1	NM_004412.7(TRDMT1):c.547C>T:p.Leu183=	coding	Benign
10	17229521	G	T	G17229521T	VIM	NM_003380.5(VIM):c.99G>T:p.Thr33=	coding	Benign
10	17229704	C	T	C17229704T	VIM	NM_003380.5(VIM):c.282C>T:p.Thr94=	coding	Benign
10	17229873	G	A	G17229873A	VIM	NM_003380.5(VIM):c.451G>A:p.Glu151Lys	coding	Pathogenic
10	17233862	C	T	C17233862T	VIM	NM_003380.5(VIM):c.813C>T:p.Asp271=	coding	Benign
10	17233928	C	G	C17233928G	VIM	NM_003380.5(VIM):c.879C>G:p.Ser293=	coding	Benign
10	17235159	C	T	C17235159T	VIM	NM_003380.5(VIM):c.1009-10C>T	noncoding	Benign
10	17594248	G	A	G17594248A	HACD1	NM_014241.4(HACD1):c.741C>T:p.Asp247=	coding	Benign
10	17594311	C	T	C17594311T	HACD1	NM_014241.4(HACD1):c.678G>A:p.Pro226=	coding	Benign
10	17599285	G	A	G17599285A	HACD1	NM_014241.4(HACD1):c.605+5C>T	noncoding	Benign
10	17617132	C	A	C17617132A	HACD1	NM_014241.4(HACD1):c.208G>T:p.Val70Phe	coding	Benign
10	17617265	C	A	C17617265A	HACD1	NM_014241.4(HACD1):c.75G>T:p.Thr25=	coding	Benign
10	17617339	T	C	T17617339C	HACD1	NM_014241.4(HACD1):c.1A>G:p.Met1Val	coding	Benign
10	17660546	T	C	T17660546C	STAM	NM_003473.4(STAM):c.123T>C:p.Thr41=	coding	Benign
10	17695245	A	G	A17695245G	STAM	NM_003473.4(STAM):c.728+4A>G	noncoding	Benign
10	17796115	G	A	G17796115A	TMEM236	NM_001098844.3(TMEM236):c.667G>A:p.Gly223Arg	coding	Benign
10	17981381	G	A	G17981381A	SLC39A12	NM_001145195.2(SLC39A12):c.994G>A:p.Asp332Asn	coding	Benign
10	18140478	C	A	C18140478A	CACNB2	NM_201596.3(CACNB2):c.-259C>A	noncoding	Benign
10	18140695	C	A	C18140695A	CACNB2	NM_201596.3(CACNB2):c.-42C>A	noncoding	Benign
10	18140706	G	A	G18140706A	CACNB2	NM_201596.3(CACNB2):c.-31G>A	noncoding	Benign
10	18140720	G	T	G18140720T	CACNB2	NM_201596.3(CACNB2):c.-17G>T	noncoding	Benign
10	18150879	T	G	T18150879G	CACNB2	NM_201596.3(CACNB2):c.121-4T>G	noncoding	Benign
10	18261325	T	G	T18261325G	CACNB2	NM_201596.3(CACNB2):c.213+110350T>G	noncoding	Benign
10	18261567	G	A	G18261567A	CACNB2	NM_201596.3(CACNB2):c.213+110592G>A	noncoding	Benign
10	18340958	C	T	C18340958T	CACNB2	NM_201596.3(CACNB2):c.214-60966C>T	coding	Pathogenic
10	18401739	A	G	A18401739G	CACNB2	NM_201596.3(CACNB2):c.214-185A>G	noncoding	Benign
10	18401770	G	C	G18401770C	CACNB2	NM_201596.3(CACNB2):c.214-154G>C	noncoding	Benign
10	18498375	G	A	G18498375A	CACNB2	NM_201596.3(CACNB2):c.354G>A:p.Ala118=	coding	Benign
10	18498447	C	T	C18498447T	CACNB2	NM_201596.3(CACNB2):c.426C>T:p.Phe142=	coding	Benign
10	18498519	C	G	C18498519G	CACNB2	NM_201596.3(CACNB2):c.456+42C>G	noncoding	Benign
10	18498792	G	T	G18498792T	CACNB2	NM_201596.3(CACNB2):c.456+315G>T	noncoding	Benign
10	18500795	T	G	T18500795G	CACNB2	NM_201596.3(CACNB2):c.457-17T>G	noncoding	Benign
10	18501213	G	T	G18501213T	CACNB2	NM_201596.3(CACNB2):c.593+265G>T	noncoding	Benign
10	18506499	T	C	T18506499C	CACNB2	NM_201596.3(CACNB2):c.622T>C:p.Leu208=	coding	Benign/Likely_benign
10	18506667	G	A	G18506667A	CACNB2	NM_201596.3(CACNB2):c.670+120G>A	noncoding	Benign
10	18506792	T	G	T18506792G	CACNB2	NM_201596.3(CACNB2):c.670+245T>G	noncoding	Benign
10	18513972	T	C	T18513972C	CACNB2	NM_201596.3(CACNB2):c.671-264T>C	noncoding	Benign
10	18514276	T	C	T18514276C	CACNB2	NM_201596.3(CACNB2):c.711T>C:p.Asn237=	coding	Benign
10	18515022	G	A	G18515022A	CACNB2	NM_201596.3(CACNB2):c.804+653G>A	coding	Benign/Likely_benign
10	18518128	G	A	G18518128A	CACNB2	NM_201596.3(CACNB2):c.805-208G>A	noncoding	Benign
10	18518404	G	A	G18518404A	CACNB2	NM_201596.3(CACNB2):c.873G>A:p.Leu291=	coding	Benign/Likely_benign
10	18518939	T	C	T18518939C	CACNB2	NM_201596.3(CACNB2):c.915T>C:p.Phe305=	coding	Benign/Likely_benign
10	18527636	G	A	G18527636A	CACNB2	NM_201596.3(CACNB2):c.993G>A:p.Ser331=	coding	Benign
10	18527704	C	T	C18527704T	CACNB2	NM_201596.3(CACNB2):c.1054+7C>T	noncoding	Benign
10	18534161	T	C	T18534161C	CACNB2	NM_201596.3(CACNB2):c.1140T>C:p.His380=	coding	Benign/Likely_benign
10	18534233	T	C	T18534233C	CACNB2	NM_201596.3(CACNB2):c.1206+6T>C	noncoding	Benign
10	18534491	G	C	G18534491C	CACNB2	NM_201596.3(CACNB2):c.1206+264G>C	noncoding	Benign
10	18536187	G	A	G18536187A	CACNB2	NM_201596.3(CACNB2):c.1293G>A:p.Gln431=	coding	Benign/Likely_benign
10	18537884	T	C	T18537884C	CACNB2	NM_201596.3(CACNB2):c.1303-296T>C	noncoding	Benign
10	18538374	A	G	A18538374G	CACNB2	NM_201596.3(CACNB2):c.1488+9A>G	noncoding	Benign
10	18538450	C	G	C18538450G	CACNB2	NM_201596.3(CACNB2):c.1488+85C>G	noncoding	Benign
10	18538899	C	T	C18538899T	CACNB2	NM_201596.3(CACNB2):c.1489-331C>T	noncoding	Benign
10	18538900	G	A	G18538900A	CACNB2	NM_201596.3(CACNB2):c.1489-330G>A	noncoding	Benign
10	18538957	A	C	A18538957C	CACNB2	NM_201596.3(CACNB2):c.1489-273A>C	noncoding	Benign
10	18539259	C	T	C18539259T	CACNB2	NM_201596.3(CACNB2):c.1518C>T:p.Arg506=	coding	Benign/Likely_benign
10	18539262	C	T	C18539262T	CACNB2	NM_201596.3(CACNB2):c.1521C>T:p.Ser507=	coding	Benign/Likely_benign
10	18539301	T	C	T18539301C	CACNB2	NM_201596.3(CACNB2):c.1560T>C:p.Pro520=	coding	Benign/Likely_benign
10	18539345	C	T	C18539345T	CACNB2	NM_201596.3(CACNB2):c.1604C>T:p.Ser535Leu	coding	Pathogenic
10	18539411	C	T	C18539411T	CACNB2	NM_201596.3(CACNB2):c.1670C>T:p.Ser557Leu	coding	Benign/Likely_benign
10	18539442	C	T	C18539442T	CACNB2	NM_201596.3(CACNB2):c.1701C>T:p.Tyr567=	coding	Benign
10	18539526	C	T	C18539526T	CACNB2	NM_201596.3(CACNB2):c.1785C>T:p.His595=	coding	Benign
10	18539535	T	C	T18539535C	CACNB2	NM_201596.3(CACNB2):c.1794T>C:p.Ser598=	coding	Benign
10	18539557	C	G	C18539557G	CACNB2	NM_201596.3(CACNB2):c.1816C>G:p.Arg606Gly	coding	Benign
10	18539706	T	G	T18539706G	CACNB2	NM_201596.3(CACNB2):c.1965T>G:p.Asp655Glu	coding	Benign
10	18539734	G	T	G18539734T	CACNB2	NM_201596.3(CACNB2):c.*10G>T	noncoding	Benign
10	18539741	T	C	T18539741C	CACNB2	NM_201596.3(CACNB2):c.*17T>C	noncoding	Benign
10	19103996	A	G	A19103996G	MALRD1	NM_001142308.3(MALRD1):c.615A>G:p.Gln205=	coding	Benign
10	19128252	T	C	T19128252C	MALRD1	NM_001142308.3(MALRD1):c.975T>C:p.Gly325=	coding	Benign
10	19136602	A	G	A19136602G	MALRD1	NM_001142308.3(MALRD1):c.1232A>G:p.Gln411Arg	coding	Benign
10	19136775	A	G	A19136775G	MALRD1	NM_001142308.3(MALRD1):c.1405A>G:p.Thr469Ala	coding	Benign
10	19165786	G	A	G19165786A	MALRD1	NM_001142308.3(MALRD1):c.1806G>A:p.Ala602=	coding	Benign
10	19203773	C	T	C19203773T	MALRD1	NM_001142308.3(MALRD1):c.1997C>T:p.Ala666Val	coding	Benign
10	19450384	G	C	G19450384C	MALRD1	NM_001142308.3(MALRD1):c.4923G>C:p.Leu1641=	coding	Benign
10	19491622	A	G	A19491622G	MALRD1	NM_001142308.3(MALRD1):c.5135A>G:p.Asp1712Gly	coding	Benign
10	20001883	C	T	C20001883T	PLXDC2	NM_032812.9(PLXDC2):c.221C>T:p.Ala74Val	coding	Benign
10	20785743	A	T	A20785743T	NEBL	NM_006393.3(NEBL):c.*4T>A	noncoding	Benign
10	20785795	T	C	T20785795C	NEBL	NM_006393.3(NEBL):c.2997A>G:p.Thr999=	coding	Benign
10	20786155	G	C	G20786155C	NEBL	NM_213569.2(NEBL):c.637-232C>G	noncoding	Benign
10	20787171	C	A	C20787171A	NEBL	NM_213569.2(NEBL):c.636+31G>T	noncoding	Benign
10	20787250	G	A	G20787250A	NEBL	NM_006393.3(NEBL):c.2820C>T:p.His940=	coding	Benign/Likely_benign
10	20787378	C	T	C20787378T	NEBL	NM_213569.2(NEBL):c.530-70G>A	noncoding	Benign
10	20808192	G	A	G20808192A	NEBL	NM_213569.2(NEBL):c.529+4577C>T	noncoding	Benign
10	20808283	G	C	G20808283C	NEBL	NM_213569.2(NEBL):c.529+4486C>G	noncoding	Benign
10	20808586	G	A	G20808586A	NEBL	NM_006393.3(NEBL):c.2685C>T:p.Asp895=	coding	Benign
10	20808840	A	G	A20808840G	NEBL	NM_213569.2(NEBL):c.529+3929T>C	noncoding	Benign
10	20810107	C	A	C20810107A	NEBL	NM_213569.2(NEBL):c.529+2662G>T	noncoding	Benign
10	20812805	T	C	T20812805C	NEBL	NM_006393.3(NEBL):c.2482A>G:p.Ile828Val	coding	Benign/Likely_benign
10	20813978	A	G	A20813978G	NEBL	NM_213569.2(NEBL):c.358-1038T>C	coding	Benign/Likely_benign
10	20814345	C	A	C20814345A	NEBL	NM_213569.2(NEBL):c.358-1405G>T	noncoding	Benign
10	20815684	T	C	T20815684C	NEBL	NM_006393.3(NEBL):c.2182A>G:p.Thr728Ala	coding	Benign
10	20815722	C	T	C20815722T	NEBL	NM_006393.3(NEBL):c.2149-5G>A	noncoding	Benign
10	20815765	A	T	A20815765T	NEBL	NM_213569.2(NEBL):c.358-2825T>A	noncoding	Benign
10	20815903	G	A	G20815903A	NEBL	NM_213569.2(NEBL):c.358-2963C>T	noncoding	Benign
10	20817691	A	G	A20817691G	NEBL	NM_006393.3(NEBL):c.2057T>C:p.Val686Ala	coding	Benign
10	20819425	G	A	G20819425A	NEBL	NM_006393.3(NEBL):c.2054C>T:p.Ala685Val	coding	Benign/Likely_benign
10	20819448	C	T	C20819448T	NEBL	NM_006393.3(NEBL):c.2031G>A:p.Arg677=	coding	Benign
10	20822995	A	G	A20822995G	NEBL	NM_213569.2(NEBL):c.358-10055T>C	noncoding	Benign
10	20823182	A	T	A20823182T	NEBL	NM_213569.2(NEBL):c.358-10242T>A	noncoding	Benign
10	20823201	T	C	T20823201C	NEBL	NM_006393.3(NEBL):c.1962+7A>G	noncoding	Benign/Likely_benign
10	20823208	A	T	A20823208T	NEBL	NM_006393.3(NEBL):c.1962T>A:p.Asn654Lys	coding	Benign
10	20826403	T	C	T20826403C	NEBL	NM_213569.2(NEBL):c.358-13463A>G	noncoding	Benign
10	20826439	G	C	G20826439C	NEBL	NM_213569.2(NEBL):c.358-13499C>G	noncoding	Benign/Likely_benign
10	20826455	T	C	T20826455C	NEBL	NM_006393.3(NEBL):c.1861A>G:p.Ile621Val	coding	Benign
10	20826479	G	T	G20826479T	NEBL	NM_213569.2(NEBL):c.358-13539C>A	coding	Benign
10	20826679	A	C	A20826679C	NEBL	NM_213569.2(NEBL):c.358-13739T>G	noncoding	Benign
10	20828578	A	G	A20828578G	NEBL	NM_006393.3(NEBL):c.1728T>C:p.Asp576=	coding	Benign/Likely_benign
10	20831187	A	G	A20831187G	NEBL	NM_006393.3(NEBL):c.1671+9T>C	noncoding	Benign
10	20831592	A	C	A20831592C	NEBL	NM_006393.3(NEBL):c.1450-9T>G	noncoding	Benign
10	20835499	C	T	C20835499T	NEBL	NM_006393.3(NEBL):c.1449+14G>A	noncoding	Benign/Likely_benign
10	20840659	T	C	T20840659C	NEBL	NM_213569.2(NEBL):c.358-27719A>G	noncoding	Benign
10	20840952	C	A	C20840952A	NEBL	NM_213569.2(NEBL):c.358-28012G>T	noncoding	Benign
10	20845353	C	G	C20845353G	NEBL	NM_006393.3(NEBL):c.1132G>C:p.Asp378His	coding	Benign
10	20845374	A	C	A20845374C	NEBL	NM_006393.3(NEBL):c.1117-6T>G	noncoding	Benign
10	20850460	T	C	T20850460C	NEBL	NM_006393.3(NEBL):c.1051A>G:p.Met351Val	coding	Benign
10	20850599	G	A	G20850599A	NEBL	NM_213569.2(NEBL):c.358-37659C>T	noncoding	Benign
10	20850754	A	T	A20850754T	NEBL	NM_213569.2(NEBL):c.358-37814T>A	noncoding	Benign
10	20852527	G	A	G20852527A	NEBL	NM_213569.2(NEBL):c.358-39587C>T	noncoding	Benign
10	20852540	T	C	T20852540C	NEBL	NM_006393.3(NEBL):c.1008+5A>G	noncoding	Benign
10	20852541	G	A	G20852541A	NEBL	NM_006393.3(NEBL):c.1008+4C>T	noncoding	Benign
10	20852560	G	A	G20852560A	NEBL	NM_213569.2(NEBL):c.358-39620C>T	coding	Benign
10	20852923	C	G	C20852923G	NEBL	NM_213569.2(NEBL):c.358-39983G>C	noncoding	Benign
10	20858441	T	A	T20858441A	NEBL	NM_213569.2(NEBL):c.358-45501A>T	noncoding	Benign
10	20858489	G	A	G20858489A	NEBL	NM_213569.2(NEBL):c.358-45549C>T	noncoding	Benign
10	20858591	T	C	T20858591C	NEBL	NM_213569.2(NEBL):c.358-45651A>G	noncoding	Benign
10	20858682	A	C	A20858682C	NEBL	NM_213569.2(NEBL):c.358-45742T>G	noncoding	Benign
10	20859476	C	A	C20859476A	NEBL	NM_213569.2(NEBL):c.358-46536G>T	noncoding	Benign
10	20859655	C	A	C20859655A	NEBL	NM_213569.2(NEBL):c.358-46715G>T	noncoding	Benign
10	20860086	C	G	C20860086G	NEBL	NM_213569.2(NEBL):c.358-47146G>C	noncoding	Benign
10	20868563	T	C	T20868563C	NEBL	NM_213569.2(NEBL):c.358-55623A>G	noncoding	Benign
10	20868692	G	T	G20868692T	NEBL	NM_006393.3(NEBL):c.656C>A:p.Ala219Asp	coding	Benign
10	20868724	G	A	G20868724A	NEBL	NM_006393.3(NEBL):c.624C>T:p.Pro208=	coding	Benign
10	20869731	A	G	A20869731G	NEBL	NM_213569.2(NEBL):c.358-56791T>C	noncoding	Benign
10	20887831	C	T	C20887831T	NEBL	NM_213569.2(NEBL):c.357+73841G>A	noncoding	Benign
10	20888016	G	A	G20888016A	NEBL	NM_213569.2(NEBL):c.357+73656C>T	noncoding	Benign
10	20889601	A	G	A20889601G	NEBL	NM_213569.2(NEBL):c.357+72071T>C	noncoding	Benign
10	20889645	G	A	G20889645A	NEBL	NM_213569.2(NEBL):c.357+72027C>T	noncoding	Benign
10	20889912	T	C	T20889912C	NEBL	NM_006393.3(NEBL):c.191A>G:p.Lys64Arg	coding	Benign/Likely_benign
10	20889960	G	T	G20889960T	NEBL	NM_006393.3(NEBL):c.154-11C>A	noncoding	Benign/Likely_benign
10	20889998	T	A	T20889998A	NEBL	NM_213569.2(NEBL):c.357+71674A>T	noncoding	Benign
10	20890231	A	T	A20890231T	NEBL	NM_213569.2(NEBL):c.357+71441T>A	noncoding	Benign
10	20896732	G	A	G20896732A	NEBL	NM_213569.2(NEBL):c.357+64940C>T	noncoding	Benign
10	20896892	A	C	A20896892C	NEBL	NM_213569.2(NEBL):c.357+64780T>G	noncoding	Benign
10	20896943	A	C	A20896943C	NEBL	NM_006393.3(NEBL):c.153+15T>G	noncoding	Benign/Likely_benign
10	20896991	T	C	T20896991C	NEBL	NM_006393.3(NEBL):c.120A>G:p.Glu40=	coding	Benign/Likely_benign
10	20897002	A	G	A20897002G	NEBL	NM_006393.3(NEBL):c.109T>C:p.Leu37=	coding	Benign
10	20897195	G	A	G20897195A	NEBL	NM_006393.3(NEBL):c.11C>T:p.Pro4Leu	coding	Benign
10	20897252	G	A	G20897252A	NEBL	NM_213569.2(NEBL):c.357+64420C>T	coding	Benign
10	20897809	G	A	G20897809A	NEBL	NM_213569.2(NEBL):c.357+63863C>T	noncoding	Benign
10	20897933	G	A	G20897933A	NEBL	NM_213569.2(NEBL):c.357+63739C>T	noncoding	Benign
10	20961672	A	G	A20961672G	NEBL	NM_213569.2(NEBL):c.357T>C:p.Asn119=	coding	Benign/Likely_benign
10	21172303	G	A	G21172303A	NEBL	NM_213569.2(NEBL):c.164+80C>T	noncoding	Benign
10	21173840	G	A	G21173840A	NEBL	NM_213569.2(NEBL):c.-7C>T	noncoding	Benign
10	21713803	G	A	G21713803A	MLLT10	NM_001195626.3(MLLT10):c.1731G>A:p.Ser577=	coding	Benign
10	21727849	A	G	A21727849G	MLLT10	NM_001195626.3(MLLT10):c.1991-7A>G	noncoding	Benign
10	22326571	G	A	G22326571A	BMI1	NM_005180.9(BMI1):c.112+10G>A	noncoding	Benign
10	22386815	G	A	G22386815A	SPAG6	NM_012443.4(SPAG6):c.534G>A:p.Glu178=	coding	Benign
10	22537249	T	C	T22537249C	PIP4K2A	NM_005028.5(PIP4K2A):c.1173A>G:p.Glu391=	coding	Benign
10	22541861	G	T	G22541861T	PIP4K2A	NM_005028.5(PIP4K2A):c.979C>A:p.Leu327Met	coding	Benign
10	22541928	G	A	G22541928A	PIP4K2A	NM_005028.5(PIP4K2A):c.912C>T:p.Ser304=	coding	Benign
10	22607917	C	T	C22607917T	PIP4K2A	NM_005028.5(PIP4K2A):c.339+10G>A	noncoding	Benign
10	23163713	A	G	A23163713G	PTF1A	NC_000010.10:g.23452642A>G	noncoding	Benign
10	23167584	A	C	A23167584C	PTF1A	NC_000010.10:g.23456513A>C	noncoding	Benign
10	23177805	G	A	G23177805A	PTF1A	NC_000010.10:g.23466734G>A	noncoding	Benign
10	23187502	G	A	G23187502A	PTF1A	NC_000010.10:g.23476431G>A	noncoding	Benign
10	23189850	T	G	T23189850G	PTF1A	NC_000010.10:g.23478779T>G	noncoding	Benign
10	23192632	C	T	C23192632T	PTF1A	NM_178161.3(PTF1A):c.102C>T:p.Asp34=	coding	Benign/Likely_benign
10	23192692	C	T	C23192692T	PTF1A	NM_178161.3(PTF1A):c.162C>T:p.Ser54=	coding	Benign/Likely_benign
10	23192916	C	T	C23192916T	PTF1A	NM_178161.3(PTF1A):c.386C>T:p.Ala129Val	coding	Benign
10	23193101	C	A	C23193101A	PTF1A	NM_178161.3(PTF1A):c.571C>A:p.Pro191Thr	coding	Pathogenic
10	23193706	T	C	T23193706C	PTF1A	NM_178161.3(PTF1A):c.787T>C:p.Ser263Pro	coding	Benign
10	23193805	C	T	C23193805T	PTF1A	NM_178161.3(PTF1A):c.886C>T:p.Arg296Ter	coding	Pathogenic
10	23193921	G	A	G23193921A	PTF1A	NM_178161.3(PTF1A):c.*15G>A	noncoding	Benign
10	23233560	C	T	C23233560T	PTF1A	NM_001365862.2(C10orf67):c.1437+6169G>A	noncoding	Benign
10	23255343	T	C	T23255343C	PTF1A	NM_001365862.2(C10orf67):c.1204-4652A>G	noncoding	Benign
10	23259604	C	A	C23259604A	PTF1A	NM_001365862.2(C10orf67):c.1203+6658G>T	noncoding	Benign
10	23283453	A	C	A23283453C	PTF1A	NM_001365862.2(C10orf67):c.913-1375T>G	noncoding	Benign
10	23290495	G	A	G23290495A	PTF1A	NM_001365862.2(C10orf67):c.854-537C>T	noncoding	Benign
10	23440342	C	T	C23440342T	OTUD1	NM_001145373.2(OTUD1):c.885C>T:p.Ala295=	coding	Benign
10	23440579	A	T	A23440579T	OTUD1	NM_001145373.2(OTUD1):c.1122A>T:p.Ala374=	coding	Benign
10	24473963	G	A	G24473963A	KIAA1217	NM_019590.5(KIAA1217):c.1582G>A:p.Ala528Thr	coding	Benign
10	24524368	C	T	C24524368T	KIAA1217	NM_019590.5(KIAA1217):c.2502C>T:p.Ala834=	coding	Benign
10	24533161	C	T	C24533161T	KIAA1217	NM_019590.5(KIAA1217):c.3338C>T:p.Pro1113Leu	coding	Benign
10	24542917	C	T	C24542917T	KIAA1217	NM_019590.5(KIAA1217):c.3647C>T:p.Pro1216Leu	coding	Benign
10	24543295	C	G	C24543295G	KIAA1217	NM_019590.5(KIAA1217):c.4025C>G:p.Thr1342Arg	coding	Benign
10	24584440	C	G	C24584440G	ARHGAP21	NM_020824.4(ARHGAP21):c.5849G>C:p.Ser1950Thr	coding	Benign
10	24595900	A	G	A24595900G	ARHGAP21	NM_020824.4(ARHGAP21):c.3621T>C:p.Asp1207=	coding	Benign
10	24596026	A	T	A24596026T	ARHGAP21	NM_020824.4(ARHGAP21):c.3495T>A:p.Val1165=	coding	Benign
10	24596856	C	T	C24596856T	ARHGAP21	NM_020824.4(ARHGAP21):c.3361G>A:p.Gly1121Ser	coding	Benign
10	24619600	G	A	G24619600A	ARHGAP21	NM_020824.4(ARHGAP21):c.2295C>T:p.Thr765=	coding	Benign
10	24620069	C	T	C24620069T	ARHGAP21	NM_020824.4(ARHGAP21):c.1826G>A:p.Arg609Gln	coding	Benign
10	24620935	T	G	T24620935G	ARHGAP21	NM_020824.4(ARHGAP21):c.960A>C:p.Pro320=	coding	Benign
10	24620941	T	G	T24620941G	ARHGAP21	NM_020824.4(ARHGAP21):c.954A>C:p.Thr318=	coding	Benign
10	24872046	A	G	A24872046G	PRTFDC1	NM_020200.7(PRTFDC1):c.357T>C:p.Gly119=	coding	Benign
10	24990617	G	T	G24990617T	ENKUR	NM_145010.4(ENKUR):c.448-8C>A	noncoding	Benign
10	25935830	G	A	G25935830A	MYO3A	NM_017433.5(MYO3A):c.-18G>A	noncoding	Benign
10	25952096	T	A	T25952096A	MYO3A	NM_017433.5(MYO3A):c.-15T>A	noncoding	Benign
10	25997230	G	T	G25997230T	MYO3A	NM_017433.5(MYO3A):c.480G>T:p.Thr160=	coding	Benign
10	26016844	C	T	C26016844T	MYO3A	NM_017433.5(MYO3A):c.533C>T:p.Thr178Ile	coding	Benign/Likely_benign
10	26021541	C	T	C26021541T	MYO3A	NM_017433.5(MYO3A):c.624C>T:p.Asp208=	coding	Benign/Likely_benign
10	26021577	C	T	C26021577T	MYO3A	NM_017433.5(MYO3A):c.660C>T:p.Ala220=	coding	Benign/Likely_benign
10	26021668	G	A	G26021668A	MYO3A	NM_017433.5(MYO3A):c.731+20G>A	noncoding	Benign
10	26024020	A	G	A26024020G	MYO3A	NM_017433.5(MYO3A):c.732-2A>G	noncoding	Pathogenic
10	26066977	G	A	G26066977A	MYO3A	NM_017433.5(MYO3A):c.956G>A:p.Arg319His	coding	Benign
10	26067063	A	G	A26067063G	MYO3A	NM_017433.5(MYO3A):c.1042A>G:p.Ile348Val	coding	Benign
10	26067085	C	T	C26067085T	MYO3A	NM_017433.5(MYO3A):c.1053+11C>T	noncoding	Benign
10	26067086	A	G	A26067086G	MYO3A	NM_017433.5(MYO3A):c.1053+12A>G	noncoding	Benign
10	26068818	C	T	C26068818T	MYO3A	NM_017433.5(MYO3A):c.1104C>T:p.Tyr368=	coding	Benign
10	26068819	G	A	G26068819A	MYO3A	NM_017433.5(MYO3A):c.1105G>A:p.Val369Ile	coding	Benign
10	26068891	C	T	C26068891T	MYO3A	NM_017433.5(MYO3A):c.1170+7C>T	noncoding	Benign
10	26088343	G	A	G26088343A	MYO3A	NM_017433.5(MYO3A):c.1500G>A:p.Ala500=	coding	Benign/Likely_benign
10	26096293	A	G	A26096293G	MYO3A	NM_017433.5(MYO3A):c.1563-88A>G	noncoding	Benign
10	26096590	A	T	A26096590T	MYO3A	NM_017433.5(MYO3A):c.1684A>T:p.Arg562Ter	coding	Pathogenic
10	26096638	G	T	G26096638T	MYO3A	NM_017433.5(MYO3A):c.1732G>T:p.Glu578Ter	coding	Pathogenic
10	26096649	G	A	G26096649A	MYO3A	NM_017433.5(MYO3A):c.1743G>A:p.Glu581=	coding	Benign/Likely_benign
10	26120664	G	A	G26120664A	MYO3A	NM_017433.5(MYO3A):c.1777-12G>A	noncoding	Pathogenic
10	26125584	T	G	T26125584G	MYO3A	NM_017433.5(MYO3A):c.2090T>G:p.Leu697Trp	coding	Pathogenic
10	26145526	G	T	G26145526T	MYO3A	NM_017433.5(MYO3A):c.2497G>T:p.Ala833Ser	coding	Benign/Likely_benign
10	26147429	G	A	G26147429A	MYO3A	NM_017433.5(MYO3A):c.2506-1G>A	noncoding	Pathogenic
10	26157383	G	A	G26157383A	MYO3A	NM_017433.5(MYO3A):c.2867G>A:p.Ser956Asn	coding	Benign
10	26166161	G	A	G26166161A	MYO3A	NM_017433.5(MYO3A):c.3094G>A:p.Ala1032Thr	coding	Benign/Likely_benign
10	26168708	T	C	T26168708C	MYO3A	NM_017433.5(MYO3A):c.3112-4T>C	noncoding	Benign
10	26168729	T	G	T26168729G	MYO3A	NM_017433.5(MYO3A):c.3129T>G:p.Tyr1043Ter	coding	Pathogenic
10	26173853	G	A	G26173853A	MYO3A	NM_017433.5(MYO3A):c.3589G>A:p.Glu1197Lys	coding	Benign/Likely_benign
10	26173861	G	A	G26173861A	MYO3A	NM_017433.5(MYO3A):c.3597G>A:p.Glu1199=	coding	Benign
10	26174083	G	A	G26174083A	MYO3A	NM_017433.5(MYO3A):c.3819G>A:p.Trp1273Ter	coding	Pathogenic
10	26174114	A	T	A26174114T	MYO3A	NM_017433.5(MYO3A):c.3850A>T:p.Thr1284Ser	coding	Benign
10	26174201	C	A	C26174201A	MYO3A	NM_017433.5(MYO3A):c.3937C>A:p.Arg1313Ser	coding	Benign
10	26176742	A	G	A26176742G	MYO3A	NM_017433.5(MYO3A):c.4335A>G:p.Lys1445=	coding	Benign/Likely_benign
10	26176863	T	C	T26176863C	MYO3A	NM_017433.5(MYO3A):c.4438+18T>C	noncoding	Benign
10	26193193	C	T	C26193193T	MYO3A	NM_017433.5(MYO3A):c.4439-12C>T	noncoding	Benign
10	26193228	A	G	A26193228G	MYO3A	NM_017433.5(MYO3A):c.4462A>G:p.Lys1488Glu	coding	Benign/Likely_benign
10	26211960	C	G	C26211960G	MYO3A	NM_017433.5(MYO3A):c.4848C>G:p.Ser1616=	coding	Benign
10	26217930	C	T	C26217930T	GAD2	NM_001134366.2(GAD2):c.225C>T:p.Cys75=	coding	Benign
10	26219214	C	A	C26219214A	GAD2	NM_001134366.2(GAD2):c.458C>A:p.Pro153Gln	coding	Benign
10	26224610	T	C	T26224610C	GAD2	NM_001134366.2(GAD2):c.683T>C:p.Ile228Thr	coding	Benign
10	26224622	G	A	G26224622A	GAD2	NM_001134366.2(GAD2):c.695G>A:p.Gly232Glu	coding	Benign
10	26224632	C	T	C26224632T	GAD2	NM_001134366.2(GAD2):c.705C>T:p.Gly235=	coding	Benign
10	26270630	G	A	G26270630A	GAD2	NM_001134366.2(GAD2):c.976-10G>A	noncoding	Benign
10	26273650	G	A	G26273650A	GAD2	NM_001134366.2(GAD2):c.1107G>A:p.Gly369=	coding	Benign
10	26511839	C	T	C26511839T	APBB1IP	NM_019043.4(APBB1IP):c.624C>T:p.Phe208=	coding	Benign
10	26560760	C	T	C26560760T	APBB1IP	NM_019043.4(APBB1IP):c.1285C>T:p.Arg429Trp	coding	Benign
10	26567336	G	A	G26567336A	APBB1IP	NM_019043.4(APBB1IP):c.1849G>A:p.Ala617Thr	coding	Benign
10	26567352	C	T	C26567352T	APBB1IP	NM_019043.4(APBB1IP):c.1865C>T:p.Ala622Val	coding	Benign
10	26697800	G	T	G26697800T	PDSS1	NM_014317.5(PDSS1):c.89G>T:p.Gly30Val	coding	Benign
10	26698003	T	C	T26698003C	PDSS1	NM_014317.5(PDSS1):c.129+163T>C	noncoding	Benign
10	26698073	C	T	C26698073T	PDSS1	NM_014317.5(PDSS1):c.129+233C>T	noncoding	Benign
10	26698131	G	C	G26698131C	PDSS1	NM_014317.5(PDSS1):c.129+291G>C	noncoding	Benign
10	26704461	T	A	T26704461A	PDSS1	NM_014317.5(PDSS1):c.163-216T>A	noncoding	Benign
10	26704799	G	A	G26704799A	PDSS1	NM_014317.5(PDSS1):c.227+58G>A	noncoding	Benign
10	26705026	C	A	C26705026A	PDSS1	NM_014317.5(PDSS1):c.228-260C>A	noncoding	Benign
10	26705032	G	A	G26705032A	PDSS1	NM_014317.5(PDSS1):c.228-254G>A	noncoding	Benign
10	26709708	T	G	T26709708G	PDSS1	NM_014317.5(PDSS1):c.407T>G:p.Phe136Cys	coding	Benign
10	26709727	G	A	G26709727A	PDSS1	NM_014317.5(PDSS1):c.426G>A:p.Ala142=	coding	Benign/Likely_benign
10	26720079	G	A	G26720079A	PDSS1	NM_014317.5(PDSS1):c.468-139G>A	noncoding	Benign
10	26720290	T	C	T26720290C	PDSS1	NM_014317.5(PDSS1):c.540T>C:p.Asp180=	coding	Benign/Likely_benign
10	26723695	C	T	C26723695T	PDSS1	NM_014317.5(PDSS1):c.610-111C>T	noncoding	Benign
10	26723753	A	G	A26723753G	PDSS1	NM_014317.5(PDSS1):c.610-53A>G	noncoding	Benign
10	26734953	T	C	T26734953C	PDSS1	NM_014317.5(PDSS1):c.832-287T>C	noncoding	Benign
10	26735477	T	G	T26735477G	PDSS1	NM_014317.5(PDSS1):c.924T>G:p.Asp308Glu	coding	Pathogenic
10	26735781	G	A	G26735781A	PDSS1	NM_014317.5(PDSS1):c.1026+202G>A	noncoding	Benign
10	26742285	A	G	A26742285G	PDSS1	NM_014317.5(PDSS1):c.1027-212A>G	noncoding	Benign
10	26742594	A	T	A26742594T	PDSS1	NM_014317.5(PDSS1):c.1107+17A>T	noncoding	Benign
10	26746330	T	C	T26746330C	PDSS1	NM_014317.5(PDSS1):c.1108-3T>C	noncoding	Benign/Likely_benign
10	26746333	A	C	A26746333C	PDSS1	NM_014317.5(PDSS1):c.1108A>C:p.Ser370Arg	coding	Pathogenic
10	26746476	A	G	A26746476G	PDSS1	NM_014317.5(PDSS1):c.*3A>G	noncoding	Benign/Likely_benign
10	26746549	C	T	C26746549T	PDSS1	NM_014317.5(PDSS1):c.*76C>T	noncoding	Benign
10	26746630	T	G	T26746630G	PDSS1	NM_014317.5(PDSS1):c.*157T>G	noncoding	Benign
10	26751707	T	G	T26751707G	ABI1	NM_005470.3(ABI1):c.1242A>C:p.Pro414=	coding	Benign
10	27004378	C	T	C27004378T	ANKRD26	NM_014915.2(ANKRD26):c.*1212G>A	noncoding	Benign
10	27004415	G	A	G27004415A	ANKRD26	NM_014915.2(ANKRD26):c.*1175C>T	noncoding	Benign
10	27004470	T	C	T27004470C	ANKRD26	NM_014915.2(ANKRD26):c.*1120A>G	noncoding	Benign
10	27004578	G	T	G27004578T	ANKRD26	NM_014915.2(ANKRD26):c.*1012C>A	noncoding	Benign
10	27004686	G	T	G27004686T	ANKRD26	NM_014915.2(ANKRD26):c.*904C>A	noncoding	Benign
10	27005637	C	T	C27005637T	ANKRD26	NM_014915.3(ANKRD26):c.5086G>A:p.Ala1696Thr	coding	Benign
10	27012956	G	A	G27012956A	ANKRD26	NM_014915.2(ANKRD26):c.4879C>T:p.Pro1627Ser	coding	Benign
10	27014676	A	T	A27014676T	ANKRD26	NM_014915.2(ANKRD26):c.4542T>A:p.Phe1514Leu	coding	Benign
10	27017511	T	C	T27017511C	ANKRD26	NM_014915.2(ANKRD26):c.4497A>G:p.Leu1499=	coding	Benign
10	27017518	A	T	A27017518T	ANKRD26	NM_014915.3(ANKRD26):c.4490T>A:p.Val1497Asp	coding	Benign
10	27017749	C	T	C27017749T	ANKRD26	NM_014915.2(ANKRD26):c.4259G>A:p.Cys1420Tyr	coding	Benign
10	27022585	A	G	A27022585G	ANKRD26	NM_014915.2(ANKRD26):c.4188T>C:p.Asp1396=	coding	Benign
10	27022628	A	T	A27022628T	ANKRD26	NM_014915.2(ANKRD26):c.4145T>A:p.Phe1382Tyr	coding	Benign
10	27028849	T	C	T27028849C	ANKRD26	NM_014915.2(ANKRD26):c.3972+3A>G	noncoding	Benign
10	27028911	C	T	C27028911T	ANKRD26	NM_014915.2(ANKRD26):c.3913G>A:p.Val1305Ile	coding	Benign
10	27033374	C	G	C27033374G	ANKRD26	NM_014915.2(ANKRD26):c.3658G>C:p.Val1220Leu	coding	Benign
10	27033377	C	T	C27033377T	ANKRD26	NM_014915.3(ANKRD26):c.3655G>A:p.Val1219Ile	coding	Benign
10	27033381	A	G	A27033381G	ANKRD26	NM_014915.2(ANKRD26):c.3655-4T>C	noncoding	Benign
10	27035066	C	T	C27035066T	ANKRD26	NM_014915.2(ANKRD26):c.3384G>A:p.Lys1128=	coding	Benign
10	27035164	G	A	G27035164A	ANKRD26	NM_014915.2(ANKRD26):c.3286C>T:p.Arg1096Trp	coding	Benign
10	27035443	C	T	C27035443T	ANKRD26	NM_014915.3(ANKRD26):c.3007G>A:p.Glu1003Lys	coding	Benign/Likely_benign
10	27035472	T	G	T27035472G	ANKRD26	NM_014915.2(ANKRD26):c.2978A>C:p.Glu993Ala	coding	Benign
10	27035476	G	A	G27035476A	ANKRD26	NM_014915.2(ANKRD26):c.2974C>T:p.Leu992=	coding	Benign
10	27035663	G	A	G27035663A	ANKRD26	NM_014915.2(ANKRD26):c.2787C>T:p.Asp929=	coding	Benign
10	27037177	T	C	T27037177C	ANKRD26	NM_014915.3(ANKRD26):c.2697+9A>G	noncoding	Benign
10	27037204	T	C	T27037204C	ANKRD26	NM_014915.2(ANKRD26):c.2679A>G:p.Gln893=	coding	Benign/Likely_benign
10	27037299	G	C	G27037299C	ANKRD26	NM_014915.3(ANKRD26):c.2584C>G:p.Gln862Glu	coding	Benign
10	27037861	A	T	A27037861T	ANKRD26	NM_014915.2(ANKRD26):c.2559+10T>A	noncoding	Benign
10	27038058	C	T	C27038058T	ANKRD26	NM_014915.2(ANKRD26):c.2376-4G>A	noncoding	Benign
10	27038070	T	C	T27038070C	ANKRD26	NM_014915.2(ANKRD26):c.2376-16A>G	noncoding	Benign
10	27040008	C	G	C27040008G	ANKRD26	NM_014915.2(ANKRD26):c.2332G>C:p.Glu778Gln	coding	Benign/Likely_benign
10	27040108	A	T	A27040108T	ANKRD26	NM_014915.3(ANKRD26):c.2232T>A:p.Asn744Lys	coding	Benign
10	27040130	C	A	C27040130A	ANKRD26	NM_014915.3(ANKRD26):c.2210G>T:p.Arg737Ile	coding	Benign
10	27040170	T	G	T27040170G	ANKRD26	NM_014915.3(ANKRD26):c.2170A>C:p.Ser724Arg	coding	Benign
10	27043516	A	G	A27043516G	ANKRD26	NM_014915.2(ANKRD26):c.2071T>C:p.Ser691Pro	coding	Benign
10	27044171	T	C	T27044171C	ANKRD26	NM_014915.3(ANKRD26):c.2005A>G:p.Asn669Asp	coding	Benign
10	27046368	T	A	T27046368A	ANKRD26	NM_014915.3(ANKRD26):c.1970A>T:p.Asp657Val	coding	Benign
10	27046470	C	T	C27046470T	ANKRD26	NM_014915.2(ANKRD26):c.1868G>A:p.Arg623Gln	coding	Benign
10	27048809	C	T	C27048809T	ANKRD26	NM_014915.3(ANKRD26):c.1806G>A:p.Glu602=	coding	Benign
10	27048868	G	C	G27048868C	ANKRD26	NM_014915.3(ANKRD26):c.1747C>G:p.Gln583Glu	coding	Benign
10	27053311	A	G	A27053311G	ANKRD26	NM_014915.2(ANKRD26):c.1635+9T>C	noncoding	Benign
10	27053384	T	C	T27053384C	ANKRD26	NM_014915.2(ANKRD26):c.1571A>G:p.His524Arg	coding	Benign
10	27060339	A	G	A27060339G	ANKRD26	NM_014915.2(ANKRD26):c.1564+6T>C	noncoding	Benign
10	27061127	G	T	G27061127T	ANKRD26	NM_014915.2(ANKRD26):c.1462+17C>A	noncoding	Benign
10	27061155	A	G	A27061155G	ANKRD26	NM_014915.3(ANKRD26):c.1451T>C:p.Val484Ala	coding	Benign/Likely_benign
10	27064078	T	C	T27064078C	ANKRD26	NM_014915.2(ANKRD26):c.1273A>G:p.Ile425Val	coding	Benign
10	27066537	C	T	C27066537T	ANKRD26	NM_014915.3(ANKRD26):c.1219G>A:p.Ala407Thr	coding	Benign
10	27067142	T	C	T27067142C	ANKRD26	NM_014915.2(ANKRD26):c.1207+15A>G	noncoding	Benign
10	27067211	T	C	T27067211C	ANKRD26	NM_014915.2(ANKRD26):c.1153A>G:p.Thr385Ala	coding	Benign
10	27067231	T	C	T27067231C	ANKRD26	NM_014915.3(ANKRD26):c.1133A>G:p.Glu378Gly	coding	Benign
10	27077467	A	G	A27077467G	ANKRD26	NM_014915.2(ANKRD26):c.948T>C:p.Asp316=	coding	Benign
10	27077478	C	T	C27077478T	ANKRD26	NM_014915.3(ANKRD26):c.937G>A:p.Asp313Asn	coding	Benign
10	27077625	C	A	C27077625A	ANKRD26	NM_014915.2(ANKRD26):c.874+8G>T	noncoding	Benign
10	27079109	C	T	C27079109T	ANKRD26	NM_014915.2(ANKRD26):c.793G>A:p.Asp265Asn	coding	Benign
10	27079146	C	T	C27079146T	ANKRD26	NM_014915.3(ANKRD26):c.756G>A:p.Pro252=	coding	Benign
10	27086569	G	A	G27086569A	ANKRD26	NM_014915.3(ANKRD26):c.679C>T:p.Pro227Ser	coding	Benign
10	27092420	T	C	T27092420C	ANKRD26	NM_014915.2(ANKRD26):c.624A>G:p.Val208=	coding	Benign
10	27092468	C	T	C27092468T	ANKRD26	NM_014915.2(ANKRD26):c.576G>A:p.Gln192=	coding	Benign
10	27092502	G	A	G27092502A	ANKRD26	NM_014915.2(ANKRD26):c.542C>T:p.Thr181Ile	coding	Benign/Likely_benign
10	27093339	T	A	T27093339A	ANKRD26	NM_014915.2(ANKRD26):c.531+10A>T	noncoding	Benign
10	27093340	G	C	G27093340C	ANKRD26	NM_014915.3(ANKRD26):c.531+9C>G	noncoding	Benign
10	27093710	T	C	T27093710C	ANKRD26	NM_014915.2(ANKRD26):c.332A>G:p.Asn111Ser	coding	Benign
10	27100165	G	A	G27100165A	ANKRD26	NM_014915.2(ANKRD26):c.162C>T:p.Ala54=	coding	Benign
10	27100186	G	T	G27100186T	ANKRD26	NM_014915.3(ANKRD26):c.141C>A:p.Leu47=	coding	Benign
10	27100226	G	A	G27100226A	ANKRD26	NM_014915.2(ANKRD26):c.101C>T:p.Ala34Val	coding	Benign
10	27100235	C	G	C27100235G	ANKRD26	NM_014915.2(ANKRD26):c.92G>C:p.Gly31Ala	coding	Benign/Likely_benign
10	27100268	T	C	T27100268C	ANKRD26	NM_014915.2(ANKRD26):c.59A>G:p.Gln20Arg	coding	Benign
10	27100287	C	T	C27100287T	ANKRD26	NM_014915.3(ANKRD26):c.40G>A:p.Gly14Ser	coding	Benign
10	27100324	C	T	C27100324T	ANKRD26	NM_014915.3(ANKRD26):c.3G>A:p.Met1Ile	coding	Benign
10	27100385	C	T	C27100385T	ANKRD26	NM_014915.2(ANKRD26):c.-59G>A	noncoding	Benign
10	27100403	G	C	G27100403C	ANKRD26	NM_014915.3(ANKRD26):c.-77C>G	noncoding	Benign
10	27100452	A	G	A27100452G	ANKRD26	NM_014915.2(ANKRD26):c.-126T>C	noncoding	Pathogenic/Likely_pathogenic
10	27100453	T	C	T27100453C	ANKRD26	NM_014915.2(ANKRD26):c.-127A>G	noncoding	Pathogenic
10	27100454	C	T	C27100454T	ANKRD26	NM_014915.3(ANKRD26):c.-128G>A	noncoding	Pathogenic
10	27100466	G	C	G27100466C	ANKRD26	NM_014915.2(ANKRD26):c.-140C>G	noncoding	Benign
10	27100510	C	A	C27100510A	ANKRD26	NM_014915.2(ANKRD26):c.-184G>T	noncoding	Benign
10	27114599	A	G	A27114599G	YME1L1	NM_014263.4(YME1L1):c.1929T>C:p.Val643=	coding	Benign
10	27117702	A	G	A27117702G	YME1L1	NM_014263.4(YME1L1):c.1593T>C:p.Ile531=	coding	Benign
10	27123702	A	G	A27123702G	YME1L1	NM_014263.4(YME1L1):c.950-3T>C	noncoding	Benign
10	27136371	G	A	G27136371A	YME1L1	NM_014263.4(YME1L1):c.445C>T:p.Arg149Trp	coding	Pathogenic
10	27136379	A	G	A27136379G	YME1L1	NM_014263.4(YME1L1):c.437T>C:p.Ile146Thr	coding	Benign
10	27155374	G	A	G27155374A	MASTL	NM_001172303.3(MASTL):c.-53G>A	noncoding	Benign
10	27155399	C	A	C27155399A	MASTL	NM_001172303.3(MASTL):c.-28C>A	noncoding	Benign
10	27155400	T	C	T27155400C	MASTL	NM_001172303.3(MASTL):c.-27T>C	noncoding	Benign
10	27155415	T	G	T27155415G	MASTL	NM_001172303.3(MASTL):c.-12T>G	noncoding	Benign
10	27155460	G	C	G27155460C	MASTL	NM_001172303.3(MASTL):c.34G>C:p.Gly12Arg	coding	Benign/Likely_benign
10	27155649	C	T	C27155649T	MASTL	NM_001172303.3(MASTL):c.186+37C>T	noncoding	Benign
10	27158690	A	C	A27158690C	MASTL	NM_001172303.3(MASTL):c.324+4A>C	noncoding	Benign
10	27161062	G	C	G27161062C	MASTL	NM_001172303.3(MASTL):c.465-32G>C	noncoding	Benign
10	27161106	G	A	G27161106A	MASTL	NM_001172303.3(MASTL):c.477G>A:p.Pro159=	coding	Benign
10	27165182	A	T	A27165182T	MASTL	NM_001172303.3(MASTL):c.660+12A>T	noncoding	Benign
10	27167074	G	A	G27167074A	MASTL	NM_001172303.3(MASTL):c.812-28G>A	noncoding	Benign
10	27167094	C	T	C27167094T	MASTL	NM_001172303.3(MASTL):c.812-8C>T	noncoding	Benign
10	27167161	C	T	C27167161T	MASTL	NM_001172303.3(MASTL):c.871C>T:p.Leu291Phe	coding	Benign
10	27169929	T	C	T27169929C	MASTL	NM_001172303.3(MASTL):c.985-15T>C	noncoding	Benign
10	27169937	C	T	C27169937T	MASTL	NM_001172303.3(MASTL):c.985-7C>T	noncoding	Benign
10	27169969	C	A	C27169969A	MASTL	NM_001172303.3(MASTL):c.1010C>A:p.Thr337Lys	coding	Benign
10	27169975	T	A	T27169975A	MASTL	NM_001172303.3(MASTL):c.1016T>A:p.Met339Lys	coding	Benign
10	27170004	G	A	G27170004A	MASTL	NM_001172303.3(MASTL):c.1045G>A:p.Ala349Thr	coding	Benign
10	27170106	C	T	C27170106T	MASTL	NM_001172303.3(MASTL):c.1147C>T:p.Arg383Cys	coding	Benign
10	27170314	C	A	C27170314A	MASTL	NM_001172303.3(MASTL):c.1355C>A:p.Ser452Tyr	coding	Benign
10	27170374	A	G	A27170374G	MASTL	NM_001172303.3(MASTL):c.1415A>G:p.Glu472Gly	coding	Benign
10	27170447	C	T	C27170447T	MASTL	NM_001172303.3(MASTL):c.1488C>T:p.His496=	coding	Benign
10	27170695	T	C	T27170695C	MASTL	NM_001172303.3(MASTL):c.1736T>C:p.Met579Thr	coding	Benign
10	27170741	C	T	C27170741T	MASTL	NM_001172303.3(MASTL):c.1782C>T:p.Ile594=	coding	Benign
10	27170775	G	T	G27170775T	MASTL	NM_001172303.3(MASTL):c.1816G>T:p.Asp606Tyr	coding	Benign
10	27170787	G	A	G27170787A	MASTL	NM_001172303.3(MASTL):c.1828G>A:p.Val610Ile	coding	Benign
10	27170817	C	G	C27170817G	MASTL	NM_001172303.3(MASTL):c.1858C>G:p.Pro620Ala	coding	Benign
10	27170889	A	C	A27170889C	MASTL	NM_001172303.3(MASTL):c.1930A>C:p.Lys644Gln	coding	Benign
10	27171019	A	G	A27171019G	MASTL	NM_001172303.3(MASTL):c.2060A>G:p.Tyr687Cys	coding	Benign
10	27171079	A	T	A27171079T	MASTL	NM_001172303.3(MASTL):c.2120A>T:p.His707Leu	coding	Benign
10	27173132	G	A	G27173132A	MASTL	NM_001172303.3(MASTL):c.2139G>A:p.Gln713=	coding	Benign
10	27180984	T	C	T27180984C	MASTL	NM_001172303.3(MASTL):c.2298T>C:p.Val766=	coding	Benign
10	27186346	T	C	T27186346C	MASTL	NM_001172303.3(MASTL):c.2483-33T>C	noncoding	Benign
10	27186515	T	C	T27186515C	MASTL	NM_001172303.3(MASTL):c.2619T>C:p.Thr873=	coding	Benign
10	27186516	G	A	G27186516A	MASTL	NM_001172303.3(MASTL):c.2620G>A:p.Val874Ile	coding	Benign/Likely_benign
10	27186565	T	C	T27186565C	MASTL	NM_001172303.3(MASTL):c.*29T>C	noncoding	Benign
10	27186596	A	T	A27186596T	MASTL	NM_001172303.3(MASTL):c.*60A>T	noncoding	Benign
10	27186650	A	G	A27186650G	MASTL	NM_001172303.3(MASTL):c.*114A>G	noncoding	Benign
10	27186668	G	A	G27186668A	MASTL	NM_001172303.3(MASTL):c.*132G>A	noncoding	Benign
10	27186764	T	C	T27186764C	MASTL	NM_001172303.3(MASTL):c.*228T>C	noncoding	Benign
10	27204538	C	T	C27204538T	ACBD5	NM_145698.5(ACBD5):c.1467G>A:p.Trp489Ter	coding	Pathogenic
10	27210813	C	T	C27210813T	ACBD5	NM_145698.5(ACBD5):c.1204+1G>A	noncoding	Pathogenic
10	27218142	C	A	C27218142A	ACBD5	NM_145698.5(ACBD5):c.667G>T:p.Glu223Ter	coding	Pathogenic
10	27223406	C	T	C27223406T	ACBD5	NM_145698.5(ACBD5):c.422G>A:p.Arg141His	coding	Benign
10	27240350	G	C	G27240350C	ACBD5	NM_145698.5(ACBD5):c.150C>G:p.Ala50=	coding	Benign
10	27240384	G	A	G27240384A	ACBD5	NM_145698.5(ACBD5):c.116C>T:p.Thr39Met	coding	Benign
10	27413207	A	G	A27413207G	PTCHD3	NM_001034842.3(PTCHD3):c.1044T>C:p.Asp348=	coding	Benign
10	27413531	G	A	G27413531A	PTCHD3	NM_001034842.3(PTCHD3):c.720C>T:p.Arg240=	coding	Benign
10	27413580	G	C	G27413580C	PTCHD3	NM_001034842.3(PTCHD3):c.671C>G:p.Ala224Gly	coding	Benign
10	27413875	T	C	T27413875C	PTCHD3	NM_001034842.3(PTCHD3):c.376A>G:p.Thr126Ala	coding	Benign
10	27503927	C	T	C27503927T	RAB18	NC_000010.11:g.27503927C>T	noncoding	Benign
10	27504287	C	A	C27504287A	RAB18	NM_001256410.1(RAB18):c.-83C>A	noncoding	Benign
10	27504350	C	T	C27504350T	RAB18	NM_021252.5(RAB18):c.-20C>T	noncoding	Benign/Likely_benign
10	27509745	T	A	T27509745A	RAB18	NM_021252.5(RAB18):c.69-130T>A	noncoding	Benign
10	27509877	T	A	T27509877A	RAB18	NM_021252.5(RAB18):c.71T>A:p.Leu24Gln	coding	Pathogenic
10	27526736	A	G	A27526736G	RAB18	NM_021252.5(RAB18):c.125-92A>G	noncoding	Benign
10	27526967	C	G	C27526967G	RAB18	NM_021252.5(RAB18):c.186+78C>G	noncoding	Benign
10	27533739	T	C	T27533739C	RAB18	NM_021252.5(RAB18):c.264T>C:p.Tyr88=	coding	Benign/Likely_benign
10	27533759	C	G	C27533759G	RAB18	NM_021252.5(RAB18):c.284C>G:p.Thr95Arg	coding	Pathogenic
10	27537588	C	T	C27537588T	RAB18	NM_021252.5(RAB18):c.446-288C>T	noncoding	Benign
10	27538022	G	A	G27538022A	RAB18	NM_021252.5(RAB18):c.592G>A:p.Ala198Thr	coding	Benign
10	27538049	T	C	T27538049C	RAB18	NM_021252.5(RAB18):c.619T>C:p.Ter207Gln	coding	Pathogenic
10	27538329	A	T	A27538329T	RAB18	NM_021252.5(RAB18):c.*278A>T	noncoding	Benign
10	27538438	C	A	C27538438A	RAB18	NM_021252.5(RAB18):c.*387C>A	noncoding	Benign
10	27538499	G	A	G27538499A	RAB18	NM_021252.5(RAB18):c.*448G>A	noncoding	Benign
10	27538555	A	G	A27538555G	RAB18	NM_021252.5(RAB18):c.*504A>G	noncoding	Benign
10	27538808	G	T	G27538808T	RAB18	NM_021252.5(RAB18):c.*757G>T	noncoding	Benign
10	27538809	A	T	A27538809T	RAB18	NM_021252.5(RAB18):c.*758A>T	noncoding	Benign
10	27539463	C	T	C27539463T	RAB18	NM_021252.5(RAB18):c.*1412C>T	noncoding	Benign
10	27539539	A	C	A27539539C	RAB18	NM_021252.5(RAB18):c.*1488A>C	noncoding	Benign
10	27539593	T	C	T27539593C	RAB18	NM_021252.5(RAB18):c.*1542T>C	noncoding	Benign
10	27540426	A	G	A27540426G	RAB18	NM_021252.5(RAB18):c.*2375A>G	noncoding	Benign
10	27540500	A	G	A27540500G	RAB18	NM_021252.5(RAB18):c.*2449A>G	noncoding	Benign
10	27540527	G	A	G27540527A	RAB18	NM_021252.5(RAB18):c.*2476G>A	noncoding	Benign
10	27540580	G	A	G27540580A	RAB18	NM_021252.5(RAB18):c.*2529G>A	noncoding	Benign
10	27540795	C	T	C27540795T	RAB18	NM_021252.5(RAB18):c.*2744C>T	noncoding	Benign
10	27541180	C	T	C27541180T	RAB18	NM_021252.5(RAB18):c.*3129C>T	noncoding	Benign
10	27541504	G	A	G27541504A	RAB18	NM_021252.5(RAB18):c.*3453G>A	noncoding	Benign
10	27541527	A	G	A27541527G	RAB18	NM_021252.5(RAB18):c.*3476A>G	noncoding	Benign
10	27541572	C	T	C27541572T	RAB18	NM_021252.5(RAB18):c.*3521C>T	noncoding	Benign
10	27541635	C	T	C27541635T	RAB18	NM_021252.5(RAB18):c.*3584C>T	noncoding	Benign
10	27541747	T	A	T27541747A	RAB18	NM_021252.5(RAB18):c.*3696T>A	noncoding	Benign
10	27541990	A	T	A27541990T	RAB18	NM_021252.5(RAB18):c.*3939A>T	noncoding	Benign
10	27542018	T	C	T27542018C	RAB18	NM_021252.5(RAB18):c.*3967T>C	noncoding	Benign
10	27542182	A	G	A27542182G	RAB18	NM_021252.5(RAB18):c.*4131A>G	noncoding	Benign
10	27743297	C	T	C27743297T	MKX	NM_173576.3(MKX):c.119G>A:p.Arg40His	coding	Benign
10	27812526	C	A	C27812526A	ODAD2	NM_018076.5(ODAD2):c.3121G>T:p.Ala1041Ser	coding	Benign
10	27860664	G	A	G27860664A	ODAD2	NM_018076.5(ODAD2):c.2982C>T:p.Ala994=	coding	Benign
10	27860667	G	A	G27860667A	ODAD2	NM_018076.5(ODAD2):c.2979C>T:p.Asp993=	coding	Benign
10	27860841	G	T	G27860841T	ODAD2	NM_018076.5(ODAD2):c.2805C>A:p.Asn935Lys	coding	Benign
10	27862453	A	C	A27862453C	ODAD2	NM_018076.5(ODAD2):c.2780T>G:p.Leu927Trp	coding	Pathogenic/Likely_pathogenic
10	27862558	G	T	G27862558T	ODAD2	NM_018076.5(ODAD2):c.2675C>A:p.Ser892Ter	coding	Pathogenic
10	27935009	C	T	C27935009T	ODAD2	NM_018076.5(ODAD2):c.2495+1G>A	noncoding	Pathogenic
10	27935171	C	T	C27935171T	ODAD2	NM_018076.5(ODAD2):c.2334G>A:p.Gly778=	coding	Benign
10	27936759	C	T	C27936759T	ODAD2	NM_018076.5(ODAD2):c.2219G>A:p.Trp740Ter	coding	Pathogenic/Likely_pathogenic
10	27936851	G	A	G27936851A	ODAD2	NM_018076.5(ODAD2):c.2127C>T:p.Leu709=	coding	Benign
10	27939896	C	A	C27939896A	ODAD2	NM_018076.5(ODAD2):c.2097+1G>T	noncoding	Pathogenic/Likely_pathogenic
10	27939896	C	T	C27939896T	ODAD2	NM_018076.5(ODAD2):c.2097+1G>A	noncoding	Pathogenic
10	27939936	A	G	A27939936G	ODAD2	NM_018076.5(ODAD2):c.2058T>C:p.Asn686=	coding	Benign
10	27939980	C	A	C27939980A	ODAD2	NM_018076.5(ODAD2):c.2014G>T:p.Glu672Ter	coding	Pathogenic
10	27940577	C	A	C27940577A	ODAD2	NM_018076.5(ODAD2):c.1972G>T:p.Glu658Ter	coding	Pathogenic
10	27940580	G	A	G27940580A	ODAD2	NM_018076.5(ODAD2):c.1969C>T:p.Gln657Ter	coding	Pathogenic
10	27944296	C	A	C27944296A	ODAD2	NM_018076.5(ODAD2):c.1669G>T:p.Glu557Ter	coding	Pathogenic
10	27961682	G	A	G27961682A	ODAD2	NM_018076.5(ODAD2):c.1272C>T:p.Ser424=	coding	Benign
10	27968923	C	T	C27968923T	ODAD2	NM_018076.5(ODAD2):c.1238G>A:p.Arg413Gln	coding	Benign
10	27968924	G	C	G27968924C	ODAD2	NM_018076.5(ODAD2):c.1237C>G:p.Arg413Gly	coding	Benign
10	27969028	A	C	A27969028C	ODAD2	NM_018076.5(ODAD2):c.1143-10T>G	noncoding	Benign
10	27971174	C	T	C27971174T	ODAD2	NM_018076.5(ODAD2):c.1076G>A:p.Trp359Ter	coding	Pathogenic
10	27971222	A	G	A27971222G	ODAD2	NM_018076.5(ODAD2):c.1028T>C:p.Ile343Thr	coding	Benign
10	27971233	G	A	G27971233A	ODAD2	NM_018076.5(ODAD2):c.1017C>T:p.Leu339=	coding	Benign
10	27983938	G	A	G27983938A	ODAD2	NM_018076.5(ODAD2):c.724C>T:p.Gln242Ter	coding	Pathogenic
10	27983945	C	T	C27983945T	ODAD2	NM_018076.5(ODAD2):c.717G>A:p.Pro239=	coding	Benign
10	27984254	A	T	A27984254T	ODAD2	NM_018076.5(ODAD2):c.612T>A:p.Asp204Glu	coding	Benign
10	27985171	A	G	A27985171G	ODAD2	NM_018076.5(ODAD2):c.423T>C:p.Tyr141=	coding	Benign
10	27994945	T	G	T27994945G	ODAD2	NM_018076.5(ODAD2):c.198A>C:p.Ser66=	coding	Benign
10	27995116	C	T	C27995116T	ODAD2	NM_018076.5(ODAD2):c.27G>A:p.Thr9=	coding	Benign
10	28533604	C	T	C28533604T	WAC	NM_016628.5(WAC):c.25C>T:p.Gln9Ter	coding	Pathogenic
10	28535622	C	T	C28535622T	WAC	NM_016628.5(WAC):c.139C>T:p.Arg47Ter	coding	Pathogenic
10	28583498	C	A	C28583498A	WAC	NM_016628.5(WAC):c.374C>A:p.Ser125Ter	coding	Pathogenic
10	28589734	A	G	A28589734G	WAC	NM_016628.5(WAC):c.382-2A>G	noncoding	Pathogenic
10	28589759	G	A	G28589759A	WAC	NM_016628.5(WAC):c.405G>A:p.Trp135Ter	coding	Pathogenic
10	28589786	A	G	A28589786G	WAC	NM_016628.5(WAC):c.432A>G:p.Lys144=	coding	Benign
10	28589805	C	T	C28589805T	WAC	NM_016628.5(WAC):c.451C>T:p.Arg151Ter	coding	Pathogenic
10	28590718	A	G	A28590718G	WAC	NM_016628.5(WAC):c.498-2A>G	noncoding	Pathogenic
10	28590799	C	T	C28590799T	WAC	NM_016628.5(WAC):c.577C>T:p.Gln193Ter	coding	Pathogenic
10	28590805	A	G	A28590805G	WAC	NM_016628.5(WAC):c.583A>G:p.Thr195Ala	coding	Benign
10	28608191	A	G	A28608191G	WAC	NM_016628.5(WAC):c.925A>G:p.Thr309Ala	coding	Benign
10	28608338	C	T	C28608338T	WAC	NM_016628.5(WAC):c.1072C>T:p.Gln358Ter	coding	Pathogenic
10	28610731	C	T	C28610731T	WAC	NM_016628.5(WAC):c.1198C>T:p.Gln400Ter	coding	Pathogenic
10	28610784	G	A	G28610784A	WAC	NM_016628.5(WAC):c.1251G>A:p.Thr417=	coding	Benign
10	28611831	C	G	C28611831G	WAC	NM_016628.5(WAC):c.1346C>G:p.Ser449Ter	coding	Pathogenic
10	28611841	T	G	T28611841G	WAC	NM_016628.5(WAC):c.1356T>G:p.Ser452=	coding	Benign
10	28611917	C	A	C28611917A	WAC	NM_016628.5(WAC):c.1432C>A:p.Pro478Thr	coding	Benign
10	28614666	C	T	C28614666T	WAC	NM_016628.5(WAC):c.1537C>T:p.Arg513Ter	coding	Pathogenic
10	28614686	G	A	G28614686A	WAC	NM_016628.5(WAC):c.1556+1G>A	coding	Pathogenic
10	28616240	G	T	G28616240T	WAC	NM_016628.5(WAC):c.1624G>T:p.Val542Phe	coding	Benign
10	28616249	C	T	C28616249T	WAC	NM_016628.5(WAC):c.1633C>T:p.Gln545Ter	coding	Pathogenic
10	28616264	C	T	C28616264T	WAC	NM_016628.5(WAC):c.1648C>T:p.Arg550Ter	coding	Pathogenic
10	28616337	G	A	G28616337A	WAC	NM_016628.5(WAC):c.1721G>A:p.Trp574Ter	coding	Pathogenic
10	28617747	C	T	C28617747T	WAC	NM_016628.5(WAC):c.1837C>T:p.Arg613Ter	coding	Pathogenic
10	28617762	C	T	C28617762T	WAC	NM_016628.5(WAC):c.1852C>T:p.Gln618Ter	coding	Pathogenic
10	28617776	A	G	A28617776G	WAC	NM_016628.5(WAC):c.1866A>G:p.Arg622=	coding	Benign
10	28681994	A	C	A28681994C	BAMBI	NM_012342.3(BAMBI):c.376A>C:p.Arg126=	coding	Benign
10	28682240	G	A	G28682240A	BAMBI	NM_012342.3(BAMBI):c.622G>A:p.Val208Ile	coding	Benign
10	29292013	C	T	C29292013T	LYZL1	NM_032517.6(LYZL1):c.139+7C>T	noncoding	Benign
10	29292015	C	A	C29292015A	LYZL1	NM_032517.6(LYZL1):c.139+9C>A	noncoding	Benign
10	29458551	G	A	G29458551A	SVIL	NM_003174.3(SVIL):c.5163C>T:p.Asp1721=	coding	Benign
10	29462361	G	A	G29462361A	SVIL	NM_003174.3(SVIL):c.5040C>T:p.Ile1680=	coding	Benign
10	29463556	G	A	G29463556A	SVIL	NM_003174.3(SVIL):c.4935C>T:p.Ser1645=	coding	Benign
10	29473934	G	A	G29473934A	SVIL	NM_003174.3(SVIL):c.4155C>T:p.Cys1385=	coding	Benign
10	29484722	G	C	G29484722C	SVIL	NM_003174.3(SVIL):c.3611C>G:p.Thr1204Ser	coding	Benign
10	29484799	G	T	G29484799T	SVIL	NM_003174.3(SVIL):c.3534C>A:p.Tyr1178Ter	coding	Pathogenic
10	29486203	A	C	A29486203C	SVIL	NM_003174.3(SVIL):c.3383T>G:p.Leu1128Arg	coding	Benign
10	29487262	T	C	T29487262C	SVIL	NM_003174.3(SVIL):c.3108A>G:p.Arg1036=	coding	Benign
10	29487289	A	G	A29487289G	SVIL	NM_003174.3(SVIL):c.3081T>C:p.His1027=	coding	Benign
10	29488708	C	G	C29488708G	SVIL	NM_003174.3(SVIL):c.2963G>C:p.Ser988Thr	coding	Benign
10	29512750	C	T	C29512750T	SVIL	NM_003174.3(SVIL):c.2223G>A:p.Arg741=	coding	Benign
10	29512854	G	A	G29512854A	SVIL	NM_003174.3(SVIL):c.2119C>T:p.Leu707=	coding	Benign
10	29523668	G	T	G29523668T	SVIL	NM_003174.3(SVIL):c.1668C>A:p.Ala556=	coding	Benign
10	29523960	G	A	G29523960A	SVIL	NM_003174.3(SVIL):c.1376C>T:p.Thr459Met	coding	Benign
10	29550713	G	A	G29550713A	SVIL	NM_003174.3(SVIL):c.711C>T:p.Ser237=	coding	Benign
10	29550781	G	A	G29550781A	SVIL	NM_003174.3(SVIL):c.643C>T:p.Arg215Trp	coding	Benign
10	30026252	G	A	G30026252A	JCAD	NM_020848.4(JCAD):c.3896C>T:p.Pro1299Leu	coding	Benign
10	30026293	G	A	G30026293A	JCAD	NM_020848.4(JCAD):c.3855C>T:p.Ala1285=	coding	Benign
10	30026310	C	T	C30026310T	JCAD	NM_020848.4(JCAD):c.3838G>A:p.Asp1280Asn	coding	Benign
10	30029776	C	T	C30029776T	JCAD	NM_020848.4(JCAD):c.372G>A:p.Arg124=	coding	Benign
10	30047565	T	C	T30047565C	JCAD	NM_020848.4(JCAD):c.248A>G:p.Gln83Arg	coding	Benign
10	30047735	G	C	G30047735C	JCAD	NM_020848.4(JCAD):c.78C>G:p.Asn26Lys	coding	Benign
10	30313721	C	T	C30313721T	MTPAP	NM_018109.3(MTPAP):c.1637G>A:p.Ser546Asn	coding	Benign/Likely_benign
10	30313873	C	T	C30313873T	MTPAP	NM_018109.3(MTPAP):c.1485G>A:p.Leu495=	coding	Benign
10	30313926	T	C	T30313926C	MTPAP	NM_018109.3(MTPAP):c.1432A>G:p.Asn478Asp	coding	Pathogenic
10	30316115	T	C	T30316115C	MTPAP	NM_018109.3(MTPAP):c.1312+3A>G	noncoding	Benign/Likely_benign
10	30316152	A	G	A30316152G	MTPAP	NM_018109.3(MTPAP):c.1278T>C:p.Ser426=	coding	Benign/Likely_benign
10	30322845	T	G	T30322845G	MTPAP	NM_018109.3(MTPAP):c.993-228A>C	noncoding	Benign
10	30326261	C	T	C30326261T	MTPAP	NM_018109.3(MTPAP):c.992+163G>A	noncoding	Benign
10	30336592	T	C	T30336592C	MTPAP	NM_018109.3(MTPAP):c.780+211A>G	noncoding	Benign
10	30336998	C	T	C30336998T	MTPAP	NM_018109.3(MTPAP):c.585G>A:p.Lys195=	coding	Benign/Likely_benign
10	30340207	G	A	G30340207A	MTPAP	NM_018109.3(MTPAP):c.555+19C>T	noncoding	Benign
10	30340297	G	A	G30340297A	MTPAP	NM_018109.3(MTPAP):c.484C>T:p.Arg162Cys	coding	Benign
10	30340620	G	T	G30340620T	MTPAP	NM_018109.3(MTPAP):c.331-170C>A	noncoding	Benign
10	30341649	G	A	G30341649A	MTPAP	NM_018109.3(MTPAP):c.158-9C>T	noncoding	Benign
10	30349099	G	A	G30349099A	MTPAP	NM_018109.3(MTPAP):c.157+20C>T	noncoding	Benign
10	30349138	A	G	A30349138G	MTPAP	NM_018109.3(MTPAP):c.138T>C:p.Pro46=	coding	Benign
10	30349161	C	A	C30349161A	MTPAP	NM_018109.3(MTPAP):c.115G>T:p.Asp39Tyr	coding	Benign
10	30349379	G	A	G30349379A	MTPAP	NM_018109.3(MTPAP):c.-104C>T	noncoding	Benign
10	30439097	T	C	T30439097C	MAP3K8	NM_005204.4(MAP3K8):c.159T>C:p.Ser53=	coding	Benign
10	30458125	A	T	A30458125T	MAP3K8	NM_005204.4(MAP3K8):c.915A>T:p.Ser305=	coding	Benign
10	30458158	G	A	G30458158A	MAP3K8	NM_005204.4(MAP3K8):c.948G>A:p.Thr316=	coding	Benign
10	30460776	C	T	C30460776T	MAP3K8	NM_005204.4(MAP3K8):c.1344C>T:p.Leu448=	coding	Benign
10	31319237	G	A	G31319237A	ZEB1	NM_030751.6(ZEB1):c.3G>A:p.Met1Ile	coding	Pathogenic
10	31510794	T	C	T31510794C	ZEB1	NM_030751.6(ZEB1):c.603T>C:p.Ser201=	coding	Benign
10	31510885	A	G	A31510885G	ZEB1	NM_030751.6(ZEB1):c.684+10A>G	noncoding	Benign
10	31520308	C	T	C31520308T	ZEB1	NM_030751.6(ZEB1):c.973C>T:p.Arg325Ter	coding	Pathogenic
10	31520592	G	A	G31520592A	ZEB1	NM_030751.6(ZEB1):c.1257G>A:p.Ala419=	coding	Benign
10	31520993	A	G	A31520993G	ZEB1	NM_030751.6(ZEB1):c.1658A>G:p.Lys553Arg	coding	Benign
10	31521028	G	T	G31521028T	ZEB1	NM_030751.6(ZEB1):c.1693G>T:p.Glu565Ter	coding	Pathogenic
10	31521396	A	C	A31521396C	ZEB1	NM_030751.6(ZEB1):c.2061A>C:p.Pro687=	coding	Benign
10	31521746	T	C	T31521746C	ZEB1	NM_030751.6(ZEB1):c.2411T>C:p.Ile804Thr	coding	Benign
10	31521751	A	G	A31521751G	ZEB1	NM_030751.6(ZEB1):c.2416A>G:p.Thr806Ala	coding	Benign
10	31521895	C	A	C31521895A	ZEB1	NM_030751.6(ZEB1):c.2560C>A:p.Gln854Lys	coding	Benign
10	31908840	T	G	T31908840G	ARHGAP12	NM_018287.7(ARHGAP12):c.16A>C:p.Arg6=	coding	Benign
10	32018121	G	A	G32018121A	KIF5B	NM_004521.3(KIF5B):c.2475C>T:p.Ser825=	coding	Benign
10	32911570	G	A	G32911570A	ITGB1	NM_002211.4(ITGB1):c.1809C>T:p.Asn603=	coding	Benign
10	32923577	G	A	G32923577A	ITGB1	NM_002211.4(ITGB1):c.942+8C>T	noncoding	Benign
10	32928136	G	A	G32928136A	ITGB1	NM_002211.4(ITGB1):c.505C>T:p.Leu169=	coding	Benign
10	32935487	T	C	T32935487C	ITGB1	NM_002211.4(ITGB1):c.67+5A>G	noncoding	Benign
10	33185710	G	T	G33185710T	NRP1	NM_003873.6(NRP1):c.2349C>A:p.Gly783=	coding	Benign
10	33213429	G	A	G33213429A	NRP1	NM_003873.6(NRP1):c.1571C>T:p.Ser524Leu	coding	Benign
10	33213533	C	G	C33213533G	NRP1	NM_003873.6(NRP1):c.1467G>C:p.Leu489=	coding	Benign
10	33256330	C	T	C33256330T	NRP1	NM_003873.6(NRP1):c.800G>A:p.Ser267Asn	coding	Benign
10	33330713	G	A	G33330713A	NRP1	NM_003873.6(NRP1):c.243C>T:p.Asp81=	coding	Benign
10	34111475	C	T	C34111475T	PARD3	NM_001184785.2(PARD3):c.3756G>A:p.Glu1252=	coding	Benign
10	34331149	G	A	G34331149A	PARD3	NM_001184785.2(PARD3):c.2801C>T:p.Ala934Val	coding	Benign
10	34331221	G	T	G34331221T	PARD3	NM_001184785.2(PARD3):c.2729C>A:p.Pro910Gln	coding	Pathogenic
10	34337265	T	C	T34337265C	PARD3	NM_001184785.2(PARD3):c.2560+10A>G	noncoding	Benign
10	34341642	C	T	C34341642T	PARD3	NM_001184785.2(PARD3):c.2393G>A:p.Ser798Asn	coding	Benign
10	34341696	T	C	T34341696C	PARD3	NM_001184785.2(PARD3):c.2339A>G:p.Asp780Gly	coding	Pathogenic
10	34360206	C	G	C34360206G	PARD3	NM_001184785.2(PARD3):c.1761G>C:p.Leu587=	coding	Benign
10	34517061	C	G	C34517061G	PARD3	NM_001184785.2(PARD3):c.321G>C:p.Glu107Asp	coding	Benign
10	34517124	G	A	G34517124A	PARD3	NM_001184785.2(PARD3):c.258C>T:p.His86=	coding	Benign
10	35028849	C	T	C35028849T	CUL2	NM_003591.4(CUL2):c.1578G>A:p.Thr526=	coding	Benign
10	35049676	C	G	C35049676G	CUL2	NM_003591.4(CUL2):c.506+7G>C	noncoding	Benign
10	35049745	C	T	C35049745T	CUL2	NM_003591.4(CUL2):c.444G>A:p.Arg148=	coding	Benign
10	35062956	T	C	T35062956C	CUL2	NM_003591.4(CUL2):c.222+4A>G	noncoding	Benign
10	35179179	G	A	G35179179A	CREM	NM_183013.3(CREM):c.312G>A:p.Lys104=	coding	Benign
10	35207028	A	G	A35207028G	CREM	NM_183013.3(CREM):c.579A>G:p.Arg193=	coding	Benign
10	35211745	A	G	A35211745G	CREM	NM_183013.3(CREM):c.*347A>G	coding	Benign
10	42593386	A	C	A42593386C	ZNF33B	NM_006955.3(ZNF33B):c.1564T>G:p.Leu522Val	coding	Benign
10	42593883	T	C	T42593883C	ZNF33B	NM_006955.3(ZNF33B):c.1067A>G:p.His356Arg	coding	Benign
10	42784506	C	T	C42784506T	BMS1	NM_014753.4(BMS1):c.112C>T:p.Arg38Trp	coding	Benign
10	42791631	C	T	C42791631T	BMS1	NM_014753.4(BMS1):c.641C>T:p.Ala214Val	coding	Benign
10	42791700	G	A	G42791700A	BMS1	NM_014753.4(BMS1):c.710G>A:p.Arg237His	coding	Benign
10	42796564	A	G	A42796564G	BMS1	NM_014753.4(BMS1):c.1320A>G:p.Gly440=	coding	Benign
10	42796744	A	G	A42796744G	BMS1	NM_014753.4(BMS1):c.1500A>G:p.Ala500=	coding	Benign
10	42796898	T	C	T42796898C	BMS1	NM_014753.4(BMS1):c.1654T>C:p.Ser552Pro	coding	Benign
10	42796918	T	C	T42796918C	BMS1	NM_014753.4(BMS1):c.1674T>C:p.Ser558=	coding	Benign
10	42796923	G	A	G42796923A	BMS1	NM_014753.4(BMS1):c.1679G>A:p.Arg560His	coding	Benign
10	42797003	G	C	G42797003C	BMS1	NM_014753.4(BMS1):c.1759G>C:p.Val587Leu	coding	Benign
10	42797227	G	A	G42797227A	BMS1	NM_014753.4(BMS1):c.1983G>A:p.Thr661=	coding	Benign
10	42802191	G	A	G42802191A	BMS1	NM_014753.4(BMS1):c.2302G>A:p.Asp768Asn	coding	Benign
10	42820244	C	T	C42820244T	BMS1	NM_014753.4(BMS1):c.2589C>T:p.Arg863=	coding	Benign
10	42820527	G	A	G42820527A	BMS1	NM_014753.4(BMS1):c.2789G>A:p.Arg930His	coding	Pathogenic
10	42820562	A	G	A42820562G	BMS1	NM_014753.4(BMS1):c.2824A>G:p.Ile942Val	coding	Benign
10	42820564	C	T	C42820564T	BMS1	NM_014753.4(BMS1):c.2826C>T:p.Ile942=	coding	Benign
10	42823652	G	A	G42823652A	BMS1	NM_014753.4(BMS1):c.3324G>A:p.Ala1108=	coding	Benign
10	42823716	C	T	C42823716T	BMS1	NM_014753.4(BMS1):c.3388C>T:p.Arg1130Trp	coding	Benign
10	43077059	A	G	A43077059G	RET	NM_020630.5(RET):c.-200A>G	noncoding	Benign
10	43077063	C	A	C43077063A	RET	NM_020630.5(RET):c.-196C>A	noncoding	Benign/Likely_benign
10	43077099	G	T	G43077099T	RET	NM_020975.6(RET):c.-160G>T	noncoding	Benign/Likely_benign
10	43086532	C	T	C43086532T	RET	NM_020975.6(RET):c.73+9201C>T	noncoding	Benign
10	43086825	A	C	A43086825C	RET	NM_020975.6(RET):c.73+9494A>C	noncoding	Benign
10	43100333	G	T	G43100333T	RET	NM_020975.6(RET):c.74-126G>T	noncoding	Benign
10	43100409	G	T	G43100409T	RET	NM_020975.6(RET):c.74-50G>T	noncoding	Benign
10	43100496	G	A	G43100496A	RET	NM_020975.6(RET):c.111G>A:p.Trp37Ter	coding	Pathogenic
10	43100520	A	G	A43100520G	RET	NM_020975.6(RET):c.135A>G:p.Ala45=	coding	Benign
10	43100653	G	T	G43100653T	RET	NM_020975.6(RET):c.268G>T:p.Glu90Ter	coding	Pathogenic
10	43100731	G	A	G43100731A	RET	NM_020975.6(RET):c.337+9G>A	noncoding	Benign/Likely_benign
10	43100734	G	A	G43100734A	RET	NM_020975.6(RET):c.337+12G>A	noncoding	Benign/Likely_benign
10	43100859	G	T	G43100859T	RET	NM_020975.6(RET):c.337+137G>T	noncoding	Benign
10	43102345	G	A	G43102345A	RET	NM_020975.6(RET):c.341G>A:p.Arg114His	coding	Benign/Likely_benign
10	43102379	C	A	C43102379A	RET	NM_020975.6(RET):c.375C>A:p.Val125=	coding	Benign/Likely_benign
10	43102472	C	T	C43102472T	RET	NM_020975.6(RET):c.468C>T:p.Ala156=	coding	Benign/Likely_benign
10	43102542	C	T	C43102542T	RET	NM_020975.6(RET):c.538C>T:p.Arg180Ter	coding	Pathogenic
10	43102747	A	G	A43102747G	RET	NM_020975.6(RET):c.625+118A>G	noncoding	Benign
10	43104945	T	C	T43104945C	RET	NM_020975.6(RET):c.626-7T>C	noncoding	Benign
10	43104980	G	A	G43104980A	RET	NM_020975.6(RET):c.654G>A:p.Pro218=	coding	Benign/Likely_benign
10	43105038	G	T	G43105038T	RET	NM_020975.6(RET):c.712G>T:p.Glu238Ter	coding	Pathogenic
10	43105159	C	A	C43105159A	RET	NM_020975.6(RET):c.833C>A:p.Thr278Asn	coding	Benign/Likely_benign
10	43105186	G	A	G43105186A	RET	NM_020975.6(RET):c.860G>A:p.Arg287Gln	coding	Pathogenic
10	43105241	A	G	A43105241G	RET	NM_020975.6(RET):c.867+48A>G	noncoding	Benign
10	43105416	A	T	A43105416T	RET	NM_020975.6(RET):c.867+223A>T	noncoding	Benign
10	43106358	G	A	G43106358A	RET	NM_020975.6(RET):c.868-18G>A	noncoding	Benign
10	43106558	C	T	C43106558T	RET	NM_020975.6(RET):c.1050C>T:p.Thr350=	coding	Benign/Likely_benign
10	43109013	T	C	T43109013C	RET	NM_020975.6(RET):c.1064-18T>C	noncoding	Benign
10	43109085	C	T	C43109085T	RET	NM_020975.6(RET):c.1118C>T:p.Ala373Val	coding	Benign/Likely_benign
10	43109163	C	T	C43109163T	RET	NM_020975.6(RET):c.1196C>T:p.Pro399Leu	coding	Pathogenic
10	43109164	G	A	G43109164A	RET	NM_020975.6(RET):c.1197G>A:p.Pro399=	coding	Benign/Likely_benign
10	43111202	C	T	C43111202T	RET	NM_020975.6(RET):c.1264-5C>T	noncoding	Benign/Likely_benign
10	43111239	A	G	A43111239G	RET	NM_020975.6(RET):c.1296A>G:p.Ala432=	coding	Benign
10	43111279	G	C	G43111279C	RET	NM_020975.6(RET):c.1336G>C:p.Gly446Arg	coding	Benign/Likely_benign
10	43111296	G	T	G43111296T	RET	NM_020975.6(RET):c.1353G>T:p.Thr451=	coding	Benign/Likely_benign
10	43111380	C	T	C43111380T	RET	NM_020975.6(RET):c.1437C>T:p.Ala479=	coding	Benign/Likely_benign
10	43111408	G	A	G43111408A	RET	NM_020975.6(RET):c.1465G>A:p.Asp489Asn	coding	Benign/Likely_benign
10	43112092	C	T	C43112092T	RET	NM_020975.6(RET):c.1523-7C>T	noncoding	Benign/Likely_benign
10	43112121	C	G	C43112121G	RET	NM_020975.6(RET):c.1545C>G:p.Cys515Trp	coding	Pathogenic
10	43112173	G	T	G43112173T	RET	NM_020975.6(RET):c.1597G>T:p.Gly533Cys	coding	Pathogenic
10	43112666	C	T	C43112666T	RET	NM_020975.6(RET):c.1649-187C>T	noncoding	Benign
10	43113074	G	C	G43113074C	RET	NM_020975.6(RET):c.1759+111G>C	noncoding	Benign
10	43113579	G	T	G43113579T	RET	NM_020975.6(RET):c.1783G>T:p.Glu595Ter	coding	Pathogenic
10	43113621	T	C	T43113621C	RET	NM_020975.6(RET):c.1825T>C:p.Cys609Arg	coding	Pathogenic
10	43113621	T	G	T43113621G	RET	NM_020975.6(RET):c.1825T>G:p.Cys609Gly	coding	Pathogenic
10	43113622	G	A	G43113622A	RET	NM_020975.6(RET):c.1826G>A:p.Cys609Tyr	coding	Pathogenic
10	43113622	G	C	G43113622C	RET	NM_020975.6(RET):c.1826G>C:p.Cys609Ser	coding	Pathogenic
10	43113622	G	T	G43113622T	RET	NM_020975.6(RET):c.1826G>T:p.Cys609Phe	coding	Pathogenic
10	43113627	T	A	T43113627A	RET	NM_020975.6(RET):c.1831T>A:p.Cys611Ser	coding	Pathogenic
10	43113627	T	G	T43113627G	RET	NM_020975.6(RET):c.1831T>G:p.Cys611Gly	coding	Pathogenic
10	43113628	G	A	G43113628A	RET	NM_020975.6(RET):c.1832G>A:p.Cys611Tyr	coding	Pathogenic
10	43113628	G	T	G43113628T	RET	NM_020975.6(RET):c.1832G>T:p.Cys611Phe	coding	Pathogenic
10	43113629	C	G	C43113629G	RET	NM_020975.6(RET):c.1833C>G:p.Cys611Trp	coding	Pathogenic
10	43113648	T	A	T43113648A	RET	NM_020975.6(RET):c.1852T>A:p.Cys618Ser	coding	Pathogenic
10	43113648	T	C	T43113648C	RET	NM_020975.6(RET):c.1852T>C:p.Cys618Arg	coding	Pathogenic
10	43113648	T	G	T43113648G	RET	NM_020975.6(RET):c.1852T>G:p.Cys618Gly	coding	Pathogenic
10	43113649	G	A	G43113649A	RET	NM_020975.6(RET):c.1853G>A:p.Cys618Tyr	coding	Pathogenic
10	43113649	G	C	G43113649C	RET	NM_020975.6(RET):c.1853G>C:p.Cys618Ser	coding	Pathogenic
10	43113649	G	T	G43113649T	RET	NM_020975.6(RET):c.1853G>T:p.Cys618Phe	coding	Pathogenic
10	43113650	C	G	C43113650G	RET	NM_020975.6(RET):c.1854C>G:p.Cys618Trp	coding	Pathogenic
10	43113654	T	A	T43113654A	RET	NM_020975.6(RET):c.1858T>A:p.Cys620Ser	coding	Pathogenic
10	43113654	T	C	T43113654C	RET	NM_020975.6(RET):c.1858T>C:p.Cys620Arg	coding	Pathogenic
10	43113654	T	G	T43113654G	RET	NM_020975.6(RET):c.1858T>G:p.Cys620Gly	coding	Pathogenic
10	43113655	G	A	G43113655A	RET	NM_020975.6(RET):c.1859G>A:p.Cys620Tyr	coding	Pathogenic
10	43113655	G	C	G43113655C	RET	NM_020975.6(RET):c.1859G>C:p.Cys620Ser	coding	Pathogenic
10	43113655	G	T	G43113655T	RET	NM_020975.6(RET):c.1859G>T:p.Cys620Phe	coding	Pathogenic
10	43113656	C	G	C43113656G	RET	NM_020975.6(RET):c.1860C>G:p.Cys620Trp	coding	Pathogenic
10	43113663	G	A	G43113663A	RET	NM_020975.6(RET):c.1867G>A:p.Glu623Lys	coding	Benign/Likely_benign
10	43114488	T	C	T43114488C	RET	NM_020975.6(RET):c.1888T>C:p.Cys630Arg	coding	Pathogenic
10	43114489	G	A	G43114489A	RET	NM_020975.6(RET):c.1889G>A:p.Cys630Tyr	coding	Pathogenic
10	43114489	G	T	G43114489T	RET	NM_020975.6(RET):c.1889G>T:p.Cys630Phe	coding	Pathogenic
10	43114491	G	T	G43114491T	RET	NM_020975.6(RET):c.1891G>T:p.Asp631Tyr	coding	Pathogenic
10	43114500	T	A	T43114500A	RET	NM_020975.6(RET):c.1900T>A:p.Cys634Ser	coding	Pathogenic
10	43114500	T	C	T43114500C	RET	NM_020975.6(RET):c.1900T>C:p.Cys634Arg	coding	Pathogenic
10	43114500	T	G	T43114500G	RET	NM_020975.6(RET):c.1900T>G:p.Cys634Gly	coding	Pathogenic
10	43114501	G	A	G43114501A	RET	NM_020975.6(RET):c.1901G>A:p.Cys634Tyr	coding	Pathogenic
10	43114501	G	C	G43114501C	RET	NM_020975.6(RET):c.1901G>C:p.Cys634Ser	coding	Pathogenic
10	43114501	G	T	G43114501T	RET	NM_020975.6(RET):c.1901G>T:p.Cys634Phe	coding	Pathogenic
10	43114502	C	G	C43114502G	RET	NM_020975.6(RET):c.1902C>G:p.Cys634Trp	coding	Pathogenic
10	43114519	C	G	C43114519G	RET	NM_020975.6(RET):c.1919C>G:p.Ala640Gly	coding	Pathogenic
10	43114547	G	A	G43114547A	RET	NM_020975.6(RET):c.1947G>A:p.Ser649=	coding	Pathogenic/Likely_pathogenic
10	43114596	A	G	A43114596G	RET	NM_020975.6(RET):c.1996A>G:p.Lys666Glu	coding	Pathogenic/Likely_pathogenic
10	43114597	A	C	A43114597C	RET	NM_020975.6(RET):c.1997A>C:p.Lys666Thr	coding	Pathogenic
10	43114598	G	C	G43114598C	RET	NM_020975.6(RET):c.1998G>C:p.Lys666Asn	coding	Pathogenic
10	43114598	G	T	G43114598T	RET	NM_020975.6(RET):c.1998G>T:p.Lys666Asn	coding	Pathogenic/Likely_pathogenic
10	43114637	C	T	C43114637T	RET	NM_020975.6(RET):c.2037C>T:p.Pro679=	coding	Benign/Likely_benign
10	43114688	G	A	G43114688A	RET	NM_020975.6(RET):c.2088G>A:p.Ser696=	coding	Benign/Likely_benign
10	43114721	T	A	T43114721A	RET	NM_020975.6(RET):c.2121T>A:p.Asp707Glu	coding	Pathogenic
10	43116417	T	C	T43116417C	RET	NM_020975.6(RET):c.2137-167T>C	noncoding	Benign
10	43116673	G	A	G43116673A	RET	NM_020975.6(RET):c.2226G>A:p.Thr742=	coding	Benign/Likely_benign
10	43116778	C	T	C43116778T	RET	NM_020975.6(RET):c.2284+47C>T	noncoding	Benign
10	43118392	G	C	G43118392C	RET	NM_020975.6(RET):c.2304G>C:p.Glu768Asp	coding	Pathogenic/Likely_pathogenic
10	43118392	G	T	G43118392T	RET	NM_020975.6(RET):c.2304G>T:p.Glu768Asp	coding	Pathogenic/Likely_pathogenic
10	43118395	G	T	G43118395T	RET	NM_020975.6(RET):c.2307G>T:p.Leu769=	coding	Benign
10	43118458	G	C	G43118458C	RET	NM_020975.6(RET):c.2370G>C:p.Leu790Phe	coding	Pathogenic/Likely_pathogenic
10	43119522	C	T	C43119522T	RET	NM_020975.6(RET):c.2393-9C>T	noncoding	Benign/Likely_benign
10	43119548	G	A	G43119548A	RET	NM_020975.6(RET):c.2410G>A:p.Val804Met	coding	Pathogenic/Likely_pathogenic
10	43119548	G	C	G43119548C	RET	NM_020975.6(RET):c.2410G>C:p.Val804Leu	coding	Pathogenic
10	43119548	G	T	G43119548T	RET	NM_020975.6(RET):c.2410G>T:p.Val804Leu	coding	Pathogenic
10	43119556	C	G	C43119556G	RET	NM_020975.6(RET):c.2418C>G:p.Tyr806Ter	coding	Pathogenic
10	43119556	C	T	C43119556T	RET	NM_020975.6(RET):c.2418C>T:p.Tyr806=	coding	Benign/Likely_benign
10	43119565	C	T	C43119565T	RET	NM_020975.6(RET):c.2427C>T:p.Tyr809=	coding	Benign/Likely_benign
10	43119646	C	T	C43119646T	RET	NM_020975.6(RET):c.2508C>T:p.Ser836=	coding	Benign/Likely_benign
10	43119661	G	A	G43119661A	RET	NM_020975.6(RET):c.2523G>A:p.Pro841=	coding	Benign/Likely_benign
10	43119934	C	T	C43119934T	RET	NM_020975.6(RET):c.2608-147C>T	noncoding	Benign
10	43120057	G	A	G43120057A	RET	NM_020975.6(RET):c.2608-24G>A	noncoding	Benign
10	43120144	T	G	T43120144G	RET	NM_020975.6(RET):c.2671T>G:p.Ser891Ala	coding	Pathogenic
10	43120162	C	T	C43120162T	RET	NM_020975.6(RET):c.2689C>T:p.Arg897Ter	coding	Pathogenic
10	43120185	C	G	C43120185G	RET	NM_020975.6(RET):c.2712C>G:p.Ser904=	coding	Benign
10	43120432	T	C	T43120432C	RET	NM_020975.6(RET):c.2730+229T>C	noncoding	Benign
10	43121719	C	G	C43121719G	RET	NM_020975.6(RET):c.2731-227C>G	noncoding	Benign
10	43121950	G	C	G43121950C	RET	NM_020975.6(RET):c.2735G>C:p.Arg912Pro	coding	Pathogenic
10	43121968	T	C	T43121968C	RET	NM_020975.6(RET):c.2753T>C:p.Met918Thr	coding	Pathogenic
10	43121980	C	A	C43121980A	RET	NM_020975.6(RET):c.2765C>A:p.Ser922Tyr	coding	Benign
10	43124686	C	T	C43124686T	RET	NM_020975.6(RET):c.2940-197C>T	noncoding	Benign
10	43124919	G	A	G43124919A	RET	NM_020975.6(RET):c.2976G>A:p.Pro992=	coding	Benign/Likely_benign
10	43126769	T	C	T43126769C	RET	NM_020975.6(RET):c.3187+47T>C	coding	Benign
10	43128364	C	T	C43128364T	RET	NM_020975.6(RET):c.*95C>T	noncoding	Benign
10	43128599	A	G	A43128599G	RET	NM_020975.6(RET):c.*330A>G	noncoding	Benign/Likely_benign
10	43128657	G	A	G43128657A	RET	NM_020975.6(RET):c.*388G>A	noncoding	Benign
10	43128761	G	C	G43128761C	RET	NM_020975.6(RET):c.*492G>C	noncoding	Benign/Likely_benign
10	43128845	G	A	G43128845A	RET	NM_020975.6(RET):c.*576G>A	noncoding	Benign/Likely_benign
10	43129385	T	C	T43129385C	RET	NM_020975.6(RET):c.*1116T>C	noncoding	Benign
10	43129775	G	A	G43129775A	RET	NM_020975.6(RET):c.*1506G>A	noncoding	Benign
10	43129827	A	C	A43129827C	RET	NM_020975.6(RET):c.*1558A>C	noncoding	Benign/Likely_benign
10	43129852	G	A	G43129852A	RET	NM_020975.6(RET):c.*1583G>A	noncoding	Benign/Likely_benign
10	43129860	G	A	G43129860A	RET	NM_020975.6(RET):c.*1591G>A	noncoding	Benign
10	43129868	G	A	G43129868A	RET	NM_020975.6(RET):c.*1599G>A	noncoding	Benign/Likely_benign
10	43130139	C	T	C43130139T	RET	NM_020975.6(RET):c.*1870C>T	noncoding	Benign/Likely_benign
10	43130238	T	C	T43130238C	RET	NM_020975.6(RET):c.*1969T>C	noncoding	Benign/Likely_benign
10	44977730	T	C	T44977730C	DEPP1	NM_007021.4(DEPP1):c.301A>G:p.Thr101Ala	coding	Benign
10	44984028	G	T	G44984028T	RASSF4	NM_032023.4(RASSF4):c.288G>T:p.Glu96Asp	coding	Benign
10	44984902	G	A	G44984902A	RASSF4	NM_032023.4(RASSF4):c.463G>A:p.Ala155Thr	coding	Benign
10	44984913	G	C	G44984913C	RASSF4	NM_032023.4(RASSF4):c.474G>C:p.Glu158Asp	coding	Benign
10	44984921	G	A	G44984921A	RASSF4	NM_032023.4(RASSF4):c.482G>A:p.Arg161His	coding	Benign
10	45382650	C	T	C45382650T	ALOX5	NM_000698.5(ALOX5):c.318C>T:p.Gly106=	coding	Benign
10	46010397	G	C	G46010397C	NCOA4	NM_001145260.1(NCOA4):c.1572C>G:p.Pro524=	coding	Benign
10	46010437	G	A	G46010437A	NCOA4	NM_001145260.1(NCOA4):c.1532C>T:p.Ser511Leu	coding	Benign
10	46010474	C	T	C46010474T	NCOA4	NM_001145260.1(NCOA4):c.1495G>A:p.Ala499Thr	coding	Benign
10	46010599	C	T	C46010599T	NCOA4	NM_001145260.1(NCOA4):c.1370G>A:p.Gly457Glu	coding	Benign
10	46011178	T	C	T46011178C	NCOA4	NM_001145260.1(NCOA4):c.791A>G:p.Asn264Ser	coding	Benign
10	46012911	G	A	G46012911A	NCOA4	NM_001145260.1(NCOA4):c.734C>T:p.Thr245Ile	coding	Benign
10	46461918	A	G	A46461918G	NPY4R	NM_005972.6(NPY4R):c.718T>C:p.Cys240Arg	coding	Benign
10	46462341	C	A	C46462341A	NPY4R	NM_005972.6(NPY4R):c.295G>T:p.Ala99Ser	coding	Benign
10	46462402	C	G	C46462402G	NPY4R	NM_005972.6(NPY4R):c.234G>C:p.Leu78=	coding	Benign
10	46462504	G	A	G46462504A	NPY4R	NM_005972.6(NPY4R):c.132C>T:p.Ile44=	coding	Benign
10	47310388	G	A	G47310388A	GDF10	NM_004962.5(GDF10):c.912G>A:p.Pro304=	coding	Benign
10	47310521	A	G	A47310521G	GDF10	NM_004962.5(GDF10):c.1045A>G:p.Met349Val	coding	Benign
10	47322702	C	T	C47322702T	GDF2	NM_016204.4(GDF2):c.34C>T:p.Leu12=	coding	Benign/Likely_benign
10	47322741	C	T	C47322741T	GDF2	NM_016204.4(GDF2):c.73C>T:p.Leu25=	coding	Benign
10	47322871	G	T	G47322871T	GDF2	NM_016204.4(GDF2):c.203G>T:p.Arg68Leu	coding	Pathogenic
10	47322922	C	T	C47322922T	GDF2	NM_016204.4(GDF2):c.254C>T:p.Pro85Leu	coding	Pathogenic
10	47323024	C	T	C47323024T	GDF2	NM_016204.4(GDF2):c.346+10C>T	noncoding	Benign
10	47323088	G	A	G47323088A	GDF2	NM_016204.4(GDF2):c.346+74G>A	noncoding	Benign
10	47324792	T	C	T47324792C	GDF2	NM_016204.4(GDF2):c.347-49T>C	noncoding	Benign
10	47324872	C	A	C47324872A	GDF2	NM_016204.4(GDF2):c.378C>A:p.Phe126Leu	coding	Benign
10	47325146	G	A	G47325146A	GDF2	NM_016204.4(GDF2):c.652G>A:p.Asp218Asn	coding	Benign
10	47325270	A	G	A47325270G	GDF2	NM_016204.4(GDF2):c.776A>G:p.Asn259Ser	coding	Benign/Likely_benign
10	47325405	C	T	C47325405T	GDF2	NM_016204.4(GDF2):c.911C>T:p.Thr304Met	coding	Benign
10	47325511	C	T	C47325511T	GDF2	NM_016204.4(GDF2):c.1017C>T:p.Ile339=	coding	Benign/Likely_benign
10	47348472	C	T	C47348472T	RBP3	NM_002900.3(RBP3):c.-13C>T	noncoding	Benign
10	47348562	C	T	C47348562T	RBP3	NM_002900.3(RBP3):c.78C>T:p.Ser26=	coding	Benign/Likely_benign
10	47348644	C	T	C47348644T	RBP3	NM_002900.3(RBP3):c.160C>T:p.Gln54Ter	coding	Pathogenic
10	47348929	G	T	G47348929T	RBP3	NM_002900.3(RBP3):c.445G>T:p.Glu149Ter	coding	Pathogenic
10	47348951	G	C	G47348951C	RBP3	NM_002900.3(RBP3):c.467G>C:p.Trp156Ser	coding	Pathogenic
10	47348971	T	C	T47348971C	RBP3	NM_002900.3(RBP3):c.487T>C:p.Ser163Pro	coding	Benign
10	47348974	G	T	G47348974T	RBP3	NM_002900.3(RBP3):c.490G>T:p.Ala164Ser	coding	Benign
10	47349116	G	A	G47349116A	RBP3	NM_002900.3(RBP3):c.632G>A:p.Trp211Ter	coding	Pathogenic
10	47349286	A	T	A47349286T	RBP3	NM_002900.3(RBP3):c.802A>T:p.Lys268Ter	coding	Pathogenic
10	47349321	G	A	G47349321A	RBP3	NM_002900.3(RBP3):c.837G>A:p.Thr279=	coding	Benign
10	47349408	G	A	G47349408A	RBP3	NM_002900.3(RBP3):c.924G>A:p.Pro308=	coding	Benign
10	47349521	G	A	G47349521A	RBP3	NM_002900.3(RBP3):c.1037G>A:p.Arg346His	coding	Benign
10	47349646	C	T	C47349646T	RBP3	NM_002900.3(RBP3):c.1162C>T:p.Arg388Ter	coding	Pathogenic
10	47349780	G	A	G47349780A	RBP3	NM_002900.3(RBP3):c.1296G>A:p.Val432=	coding	Benign
10	47349878	G	A	G47349878A	RBP3	NM_002900.3(RBP3):c.1394G>A:p.Trp465Ter	coding	Pathogenic
10	47349987	C	T	C47349987T	RBP3	NM_002900.3(RBP3):c.1503C>T:p.Ala501=	coding	Benign/Likely_benign
10	47350119	C	A	C47350119A	RBP3	NM_002900.3(RBP3):c.1635C>A:p.Thr545=	coding	Benign
10	47350561	G	A	G47350561A	RBP3	NM_002900.3(RBP3):c.2077G>A:p.Val693Met	coding	Benign
10	47350579	T	C	T47350579C	RBP3	NM_002900.3(RBP3):c.2095T>C:p.Leu699=	coding	Benign
10	47350731	C	T	C47350731T	RBP3	NM_002900.3(RBP3):c.2247C>T:p.Asp749=	coding	Benign/Likely_benign
10	47351007	C	G	C47351007G	RBP3	NM_002900.3(RBP3):c.2523C>G:p.Tyr841Ter	coding	Pathogenic/Likely_pathogenic
10	47351134	G	A	G47351134A	RBP3	NM_002900.3(RBP3):c.2650G>A:p.Val884Met	coding	Benign
10	47351534	T	A	T47351534A	RBP3	NM_002900.3(RBP3):c.3050T>A:p.Met1017Lys	coding	Pathogenic
10	47353508	G	A	G47353508A	RBP3	NM_002900.3(RBP3):c.3238G>A:p.Asp1080Asn	coding	Pathogenic
10	47355509	C	T	C47355509T	RBP3	NM_002900.3(RBP3):c.3379C>T:p.Gln1127Ter	coding	Pathogenic
10	47357259	C	T	C47357259T	RBP3	NM_002900.3(RBP3):c.3546C>T:p.His1182=	coding	Benign
10	48178108	G	A	G48178108A	FRMPD2	NM_001018071.4(FRMPD2):c.2834C>T:p.Ala945Val	coding	Benign
10	48192703	C	T	C48192703T	FRMPD2	NM_001018071.4(FRMPD2):c.2146G>A:p.Ala716Thr	coding	Benign
10	48409917	C	T	C48409917T	MAPK8	NM_139046.4(MAPK8):c.291C>T:p.Ser97=	coding	Benign
10	48434924	G	A	G48434924A	MAPK8	NM_139046.4(MAPK8):c.*29G>A	coding	Benign
10	48446502	C	T	C48446502T	ARHGAP22	NM_021226.4(ARHGAP22):c.1986G>A:p.Ala662=	coding	Benign
10	48450295	G	A	G48450295A	ARHGAP22	NM_021226.4(ARHGAP22):c.1834C>T:p.Arg612Cys	coding	Benign
10	48723570	G	A	G48723570A	WDFY4	NM_020945.2(WDFY4):c.591+3G>A	noncoding	Benign
10	48760447	G	A	G48760447A	WDFY4	NM_020945.2(WDFY4):c.2553+7G>A	noncoding	Benign
10	48774604	C	T	C48774604T	WDFY4	NM_020945.2(WDFY4):c.2700C>T:p.Pro900=	coding	Benign
10	48775774	C	T	C48775774T	WDFY4	NM_020945.2(WDFY4):c.2831C>T:p.Ser944Phe	coding	Benign
10	48776834	C	T	C48776834T	WDFY4	NM_020945.2(WDFY4):c.2948C>T:p.Pro983Leu	coding	Benign
10	48811695	T	C	T48811695C	WDFY4	NM_020945.2(WDFY4):c.5201T>C:p.Met1734Thr	coding	Benign
10	48817319	C	T	C48817319T	WDFY4	NM_020945.2(WDFY4):c.5415C>T:p.Val1805=	coding	Benign
10	48969242	C	T	C48969242T	WDFY4	NM_020945.2(WDFY4):c.8763C>T:p.Ser2921=	coding	Benign
10	48978340	T	C	T48978340C	WDFY4	NM_020945.2(WDFY4):c.9323T>C:p.Val3108Ala	coding	Benign
10	49323178	G	T	G49323178T	C10orf71	NM_001135196.2(C10orf71):c.633G>T:p.Gln211His	coding	Benign
10	49323862	C	T	C49323862T	C10orf71	NM_001135196.2(C10orf71):c.1317C>T:p.Pro439=	coding	Benign
10	49324110	T	G	T49324110G	C10orf71	NM_001135196.2(C10orf71):c.1565T>G:p.Val522Gly	coding	Benign
10	49454992	A	G	A49454992G	ERCC6	NM_000124.4(ERCC6):c.*3823T>C	noncoding	Benign
10	49455420	T	G	T49455420G	ERCC6	NM_000124.4(ERCC6):c.*3395A>C	noncoding	Benign
10	49455869	G	A	G49455869A	ERCC6	NM_000124.4(ERCC6):c.*2946C>T	noncoding	Benign
10	49456678	T	C	T49456678C	ERCC6	NM_000124.4(ERCC6):c.*2137A>G	noncoding	Benign
10	49456943	G	A	G49456943A	ERCC6	NM_000124.4(ERCC6):c.*1872C>T	noncoding	Benign
10	49456985	A	G	A49456985G	ERCC6	NM_000124.4(ERCC6):c.*1830T>C	noncoding	Benign
10	49457540	G	C	G49457540C	ERCC6	NM_000124.4(ERCC6):c.*1275C>G	noncoding	Benign
10	49457882	C	T	C49457882T	ERCC6	NM_000124.4(ERCC6):c.*933G>A	noncoding	Benign
10	49458436	G	C	G49458436C	ERCC6	NM_000124.4(ERCC6):c.*379C>G	noncoding	Benign
10	49458762	A	G	A49458762G	ERCC6	NM_000124.4(ERCC6):c.*53T>C	noncoding	Benign
10	49458975	G	A	G49458975A	ERCC6	NM_000124.4(ERCC6):c.4322C>T:p.Thr1441Ile	coding	Benign
10	49458982	C	G	C49458982G	ERCC6	NM_000124.4(ERCC6):c.4315G>C:p.Ala1439Pro	coding	Benign
10	49459059	T	C	T49459059C	ERCC6	NM_000124.4(ERCC6):c.4238A>G:p.Gln1413Arg	coding	Benign
10	49459183	C	T	C49459183T	ERCC6	NM_000124.4(ERCC6):c.4114G>A:p.Gly1372Arg	coding	Benign
10	49459232	A	C	A49459232C	ERCC6	NM_000124.4(ERCC6):c.4065T>G:p.Asp1355Glu	coding	Benign/Likely_benign
10	49459236	T	G	T49459236G	ERCC6	NM_000124.4(ERCC6):c.4063-2A>C	noncoding	Pathogenic
10	49461370	C	A	C49461370A	ERCC6	NM_000124.4(ERCC6):c.3965G>T:p.Gly1322Val	coding	Benign
10	49461393	C	T	C49461393T	ERCC6	NM_000124.4(ERCC6):c.3942G>A:p.Trp1314Ter	coding	Pathogenic
10	49461413	C	G	C49461413G	ERCC6	NM_000124.4(ERCC6):c.3922G>C:p.Val1308Leu	coding	Benign/Likely_benign
10	49461431	G	A	G49461431A	ERCC6	NM_000124.4(ERCC6):c.3904C>T:p.Gln1302Ter	coding	Pathogenic
10	49461473	G	A	G49461473A	ERCC6	NM_000124.4(ERCC6):c.3862C>T:p.Arg1288Ter	coding	Pathogenic
10	49470166	G	A	G49470166A	ERCC6	NM_000124.4(ERCC6):c.3778+16C>T	noncoding	Benign
10	49470186	T	C	T49470186C	ERCC6	NM_000124.4(ERCC6):c.3774A>G:p.Lys1258=	coding	Benign
10	49470215	C	T	C49470215T	ERCC6	NM_000124.4(ERCC6):c.3745G>A:p.Asp1249Asn	coding	Benign
10	49470271	C	G	C49470271G	ERCC6	NM_000124.4(ERCC6):c.3689G>C:p.Arg1230Pro	coding	Benign
10	49470299	G	A	G49470299A	ERCC6	NM_000124.4(ERCC6):c.3661C>T:p.Arg1221Ter	coding	Pathogenic
10	49470301	G	A	G49470301A	ERCC6	NM_000124.4(ERCC6):c.3659C>T:p.Thr1220Ile	coding	Benign/Likely_benign
10	49470323	T	C	T49470323C	ERCC6	NM_000124.4(ERCC6):c.3637A>G:p.Arg1213Gly	coding	Benign
10	49470478	C	G	C49470478G	ERCC6	NM_000124.4(ERCC6):c.3482G>C:p.Ser1161Thr	coding	Benign/Likely_benign
10	49470479	T	G	T49470479G	ERCC6	NM_000124.4(ERCC6):c.3481A>C:p.Ser1161Arg	coding	Benign/Likely_benign
10	49470504	A	C	A49470504C	ERCC6	NM_000124.4(ERCC6):c.3456T>G:p.Gly1152=	coding	Benign/Likely_benign
10	49470515	C	A	C49470515A	ERCC6	NM_000124.4(ERCC6):c.3445G>T:p.Glu1149Ter	coding	Pathogenic
10	49470671	T	C	T49470671C	ERCC6	NM_000124.4(ERCC6):c.3289A>G:p.Met1097Val	coding	Benign
10	49470774	A	G	A49470774G	ERCC6	NM_000124.4(ERCC6):c.3186T>C:p.Ser1062=	coding	Benign/Likely_benign
10	49470783	A	G	A49470783G	ERCC6	NM_000124.4(ERCC6):c.3177T>C:p.Ser1059=	coding	Benign/Likely_benign
10	49471035	G	A	G49471035A	ERCC6	NM_000124.4(ERCC6):c.3010C>T:p.Leu1004=	coding	Benign
10	49471085	A	G	A49471085G	ERCC6	NM_000124.4(ERCC6):c.2960T>C:p.Leu987Pro	coding	Pathogenic
10	49472377	G	A	G49472377A	ERCC6	NM_000124.4(ERCC6):c.2923C>T:p.Arg975Ter	coding	Pathogenic
10	49472425	C	A	C49472425A	ERCC6	NM_000124.4(ERCC6):c.2875G>T:p.Val959Leu	coding	Benign/Likely_benign
10	49472461	G	A	G49472461A	ERCC6	NM_000124.4(ERCC6):c.2839C>T:p.Arg947Ter	coding	Pathogenic/Likely_pathogenic
10	49472472	T	C	T49472472C	ERCC6	NM_000124.4(ERCC6):c.2830-2A>G	noncoding	Pathogenic
10	49472913	G	A	G49472913A	ERCC6	NM_000124.4(ERCC6):c.2825C>T:p.Thr942Met	coding	Benign
10	49472987	G	A	G49472987A	ERCC6	NM_000124.4(ERCC6):c.2751C>T:p.Gly917=	coding	Benign
10	49473476	C	A	C49473476A	ERCC6	NM_000124.4(ERCC6):c.2709+1G>T	noncoding	Pathogenic
10	49474056	G	A	G49474056A	ERCC6	NM_000124.4(ERCC6):c.2569C>T:p.Arg857Ter	coding	Pathogenic
10	49474065	G	A	G49474065A	ERCC6	NM_000124.4(ERCC6):c.2560C>T:p.Gln854Ter	coding	Pathogenic
10	49474074	A	T	A49474074T	ERCC6	NM_000124.4(ERCC6):c.2551T>A:p.Trp851Arg	coding	Pathogenic
10	49474222	G	A	G49474222A	ERCC6	NM_000124.4(ERCC6):c.2403C>T:p.Ala801=	coding	Benign/Likely_benign
10	49478386	T	C	T49478386C	ERCC6	NM_000124.4(ERCC6):c.2254A>G:p.Met752Val	coding	Pathogenic
10	49478437	G	A	G49478437A	ERCC6	NM_000124.4(ERCC6):c.2203C>T:p.Arg735Ter	coding	Pathogenic
10	49478508	G	A	G49478508A	ERCC6	NM_000124.4(ERCC6):c.2170-38C>T	noncoding	Benign
10	49482689	G	A	G49482689A	ERCC6	NM_000124.4(ERCC6):c.2167C>T:p.Gln723Ter	coding	Pathogenic
10	49482713	C	A	C49482713A	ERCC6	NM_000124.4(ERCC6):c.2143G>T:p.Gly715Ter	coding	Pathogenic
10	49482774	C	T	C49482774T	ERCC6	NM_000124.4(ERCC6):c.2082G>A:p.Pro694=	coding	Benign
10	49482798	C	T	C49482798T	ERCC6	NM_000124.4(ERCC6):c.2058G>A:p.Trp686Ter	coding	Pathogenic
10	49482809	G	A	G49482809A	ERCC6	NM_000124.4(ERCC6):c.2047C>T:p.Arg683Ter	coding	Pathogenic/Likely_pathogenic
10	49482848	G	A	G49482848A	ERCC6	NM_000124.4(ERCC6):c.2008C>T:p.Arg670Trp	coding	Pathogenic
10	49483314	T	C	T49483314C	ERCC6	NM_000124.4(ERCC6):c.1992+32A>G	noncoding	Benign
10	49483384	G	A	G49483384A	ERCC6	NM_000124.4(ERCC6):c.1954C>T:p.Arg652Ter	coding	Pathogenic/Likely_pathogenic
10	49483419	C	T	C49483419T	ERCC6	NM_000124.4(ERCC6):c.1919G>A:p.Trp640Ter	coding	Pathogenic
10	49483504	G	A	G49483504A	ERCC6	NM_000124.4(ERCC6):c.1834C>T:p.Arg612Ter	coding	Pathogenic
10	49493110	G	A	G49493110A	ERCC6	NM_000124.4(ERCC6):c.1821+7C>T	noncoding	Benign
10	49493138	G	A	G49493138A	ERCC6	NM_000124.4(ERCC6):c.1800C>T:p.Thr600=	coding	Benign
10	49500566	T	A	T49500566A	ERCC6	NM_000124.4(ERCC6):c.1657A>T:p.Lys553Ter	coding	Pathogenic
10	49500616	A	C	A49500616C	ERCC6	NM_000124.4(ERCC6):c.1607T>G:p.Leu536Trp	coding	Pathogenic
10	49500672	C	T	C49500672T	ERCC6	NM_000124.4(ERCC6):c.1551G>A:p.Trp517Ter	coding	Pathogenic
10	49500673	C	T	C49500673T	ERCC6	NM_000124.4(ERCC6):c.1550G>A:p.Trp517Ter	coding	Pathogenic
10	49505883	C	A	C49505883A	ERCC6	NM_000124.4(ERCC6):c.1526+1G>T	noncoding	Pathogenic/Likely_pathogenic
10	49524073	G	A	G49524073A	ERCC6	NM_000124.4(ERCC6):c.1357C>T:p.Arg453Ter	coding	Pathogenic
10	49524093	C	T	C49524093T	ERCC6	NM_000124.4(ERCC6):c.1337G>A:p.Gly446Asp	coding	Benign/Likely_benign
10	49524133	C	A	C49524133A	ERCC6	NM_000124.4(ERCC6):c.1297G>T:p.Glu433Ter	coding	Pathogenic
10	49524234	C	T	C49524234T	ERCC6	NM_000124.4(ERCC6):c.1196G>A:p.Gly399Asp	coding	Benign
10	49524284	C	T	C49524284T	ERCC6	NM_000124.4(ERCC6):c.1146G>A:p.Glu382=	coding	Benign
10	49524295	C	A	C49524295A	ERCC6	NM_000124.4(ERCC6):c.1135G>T:p.Glu379Ter	coding	Pathogenic/Likely_pathogenic
10	49524421	T	A	T49524421A	ERCC6	NM_000124.4(ERCC6):c.1009A>T:p.Lys337Ter	coding	Pathogenic/Likely_pathogenic
10	49524635	A	G	A49524635G	ERCC6	NM_000124.4(ERCC6):c.795T>C:p.Leu265=	coding	Benign
10	49524667	T	A	T49524667A	ERCC6	NM_000124.4(ERCC6):c.763A>T:p.Lys255Ter	coding	Pathogenic
10	49528426	C	A	C49528426A	ERCC6	NM_000124.4(ERCC6):c.643G>T:p.Glu215Ter	coding	Pathogenic/Likely_pathogenic
10	49530735	T	C	T49530735C	ERCC6	NM_000124.4(ERCC6):c.528A>G:p.Arg176=	coding	Benign
10	49530797	G	A	G49530797A	ERCC6	NM_000124.4(ERCC6):c.466C>T:p.Gln156Ter	coding	Pathogenic
10	49532554	C	T	C49532554T	ERCC6	NM_000124.4(ERCC6):c.411G>A:p.Leu137=	coding	Benign
10	49532580	C	T	C49532580T	ERCC6	NM_000124.4(ERCC6):c.385G>A:p.Val129Met	coding	Benign
10	49532610	C	A	C49532610A	ERCC6	NM_000124.4(ERCC6):c.355G>T:p.Glu119Ter	coding	Pathogenic
10	49532736	G	A	G49532736A	ERCC6	NM_000124.4(ERCC6):c.229C>T:p.Arg77Ter	coding	Pathogenic
10	49532830	G	C	G49532830C	ERCC6	NM_000124.4(ERCC6):c.135C>G:p.Leu45=	coding	Benign
10	49539025	C	A	C49539025A	ERCC6	NM_000124.4(ERCC6):c.-78G>T	noncoding	Benign
10	49539034	G	T	G49539034T	ERCC6	NM_000124.4(ERCC6):c.-87C>A	noncoding	Benign
10	49610777	G	C	G49610777C	SLC18A3	NM_003055.3(SLC18A3):c.37G>C:p.Ala13Pro	coding	Benign
10	49611355	G	C	G49611355C	SLC18A3	NM_003055.3(SLC18A3):c.615G>C:p.Pro205=	coding	Benign
10	49611376	T	C	T49611376C	SLC18A3	NM_003055.3(SLC18A3):c.636T>C:p.Arg212=	coding	Benign
10	49611667	A	G	A49611667G	SLC18A3	NM_003055.3(SLC18A3):c.927A>G:p.Glu309=	coding	Benign
10	49611865	C	G	C49611865G	SLC18A3	NM_003055.3(SLC18A3):c.1125C>G:p.Pro375=	coding	Benign
10	49611932	G	C	G49611932C	SLC18A3	NM_003055.3(SLC18A3):c.1192G>C:p.Asp398His	coding	Pathogenic
10	49612016	A	G	A49612016G	SLC18A3	NM_003055.3(SLC18A3):c.1276A>G:p.Ile426Val	coding	Benign
10	49612299	C	A	C49612299A	CHAT	NM_003055.3(SLC18A3):c.1559C>A:p.Ala520Glu	coding	Benign
10	49613970	C	G	C49613970G	CHAT	NM_020549.4(CHAT):c.-220C>G	noncoding	Benign
10	49614146	G	C	G49614146C	CHAT	NM_020549.4(CHAT):c.-44G>C	noncoding	Benign
10	49614173	G	A	G49614173A	CHAT	NM_020549.4(CHAT):c.-17G>A	noncoding	Benign
10	49614180	T	G	T49614180G	CHAT	NM_020549.4(CHAT):c.-10T>G	noncoding	Benign
10	49614274	A	T	A49614274T	CHAT	NM_020984.3(CHAT):c.-68-2228A>T	coding	Pathogenic
10	49614330	C	G	C49614330G	CHAT	NM_020549.4(CHAT):c.141C>G:p.Asp47Glu	coding	Benign
10	49614363	C	A	C49614363A	CHAT	NM_020549.4(CHAT):c.174C>A:p.Ser58Arg	coding	Benign
10	49615784	G	A	G49615784A	CHAT	NM_020549.4(CHAT):c.287-718G>A	noncoding	Benign
10	49615935	C	T	C49615935T	CHAT	NM_020549.4(CHAT):c.287-567C>T	noncoding	Benign
10	49615992	C	T	C49615992T	CHAT	NM_020549.4(CHAT):c.287-510C>T	noncoding	Benign
10	49616071	G	A	G49616071A	CHAT	NM_020549.4(CHAT):c.287-431G>A	coding	Benign
10	49616198	C	A	C49616198A	CHAT	NM_020549.4(CHAT):c.287-304C>A	noncoding	Benign
10	49616542	G	A	G49616542A	CHAT	NM_020549.4(CHAT):c.327G>A:p.Thr109=	coding	Benign/Likely_benign
10	49616573	G	A	G49616573A	CHAT	NM_020549.4(CHAT):c.358G>A:p.Ala120Thr	coding	Benign
10	49619675	C	T	C49619675T	CHAT	NM_020549.4(CHAT):c.388-50C>T	noncoding	Benign
10	49619755	C	T	C49619755T	CHAT	NM_020549.4(CHAT):c.418C>T:p.Gln140Ter	coding	Pathogenic
10	49619775	C	T	C49619775T	CHAT	NM_020549.4(CHAT):c.438C>T:p.Tyr146=	coding	Benign/Likely_benign
10	49619913	C	T	C49619913T	CHAT	NM_020549.4(CHAT):c.576C>T:p.Asn192=	coding	Benign
10	49620018	A	C	A49620018C	CHAT	NM_020549.4(CHAT):c.579+102A>C	noncoding	Benign
10	49620460	G	A	G49620460A	CHAT	NM_020549.4(CHAT):c.580-35G>A	noncoding	Benign/Likely_benign
10	49620544	T	C	T49620544C	CHAT	NM_020549.4(CHAT):c.629T>C:p.Leu210Pro	coding	Pathogenic
10	49620546	C	G	C49620546G	CHAT	NM_020549.4(CHAT):c.631C>G:p.Pro211Ala	coding	Pathogenic
10	49621782	A	G	A49621782G	CHAT	NM_020549.4(CHAT):c.699-315A>G	noncoding	Benign
10	49622109	C	G	C49622109G	CHAT	NM_020549.4(CHAT):c.711C>G:p.Ser237Arg	coding	Benign
10	49622125	C	T	C49622125T	CHAT	NM_020549.4(CHAT):c.727C>T:p.Leu243Phe	coding	Benign
10	49622143	C	G	C49622143G	CHAT	NM_020549.4(CHAT):c.745C>G:p.Leu249Val	coding	Benign/Likely_benign
10	49625338	A	C	A49625338C	CHAT	NM_020549.4(CHAT):c.753-135A>C	noncoding	Benign
10	49625447	C	T	C49625447T	CHAT	NM_020549.4(CHAT):c.753-26C>T	noncoding	Benign
10	49625509	G	A	G49625509A	CHAT	NM_020549.4(CHAT):c.789G>A:p.Leu263=	coding	Benign/Likely_benign
10	49625616	C	T	C49625616T	CHAT	NM_020549.4(CHAT):c.896C>T:p.Pro299Leu	coding	Benign/Likely_benign
10	49625623	T	C	T49625623C	CHAT	NM_020549.4(CHAT):c.903T>C:p.Pro301=	coding	Benign
10	49625634	T	C	T49625634C	CHAT	NM_020549.4(CHAT):c.914T>C:p.Ile305Thr	coding	Pathogenic
10	49625793	G	A	G49625793A	CHAT	NM_020549.4(CHAT):c.933+140G>A	noncoding	Benign
10	49627565	G	A	G49627565A	CHAT	NM_020549.4(CHAT):c.934-43G>A	noncoding	Benign
10	49627681	T	C	T49627681C	CHAT	NM_020549.4(CHAT):c.1007T>C:p.Ile336Thr	coding	Pathogenic
10	49627736	G	A	G49627736A	CHAT	NM_020549.4(CHAT):c.1062G>A:p.Thr354=	coding	Benign
10	49627793	G	A	G49627793A	CHAT	NM_020549.4(CHAT):c.1111+8G>A	noncoding	Benign
10	49627830	G	A	G49627830A	CHAT	NM_020549.4(CHAT):c.1111+45G>A	noncoding	Benign
10	49627921	C	A	C49627921A	CHAT	NM_020549.4(CHAT):c.1111+136C>A	noncoding	Benign
10	49646437	G	A	G49646437A	CHAT	NM_020549.4(CHAT):c.1112-68G>A	noncoding	Benign
10	49646515	C	T	C49646515T	CHAT	NM_020549.4(CHAT):c.1122C>T:p.Asn374=	coding	Benign
10	49646516	C	T	C49646516T	CHAT	NM_020549.4(CHAT):c.1123C>T:p.Arg375Trp	coding	Benign
10	49646524	G	A	G49646524A	CHAT	NM_020549.4(CHAT):c.1131G>A:p.Ser377=	coding	Benign
10	49646528	G	C	G49646528C	CHAT	NM_020549.4(CHAT):c.1135G>C:p.Asp379His	coding	Benign/Likely_benign
10	49646590	C	T	C49646590T	CHAT	NM_020549.4(CHAT):c.1197C>T:p.Ser399=	coding	Benign
10	49646591	G	A	G49646591A	CHAT	NM_020549.4(CHAT):c.1198G>A:p.Asp400Asn	coding	Benign/Likely_benign
10	49646651	C	T	C49646651T	CHAT	NM_020549.4(CHAT):c.1258C>T:p.Arg420Cys	coding	Pathogenic
10	49646690	G	A	G49646690A	CHAT	NM_020549.4(CHAT):c.1281+16G>A	noncoding	Benign
10	49646721	G	A	G49646721A	CHAT	NM_020549.4(CHAT):c.1281+47G>A	noncoding	Benign
10	49648597	C	T	C49648597T	CHAT	NM_020549.4(CHAT):c.1372C>T:p.Leu458Phe	coding	Benign/Likely_benign
10	49648606	G	A	G49648606A	CHAT	NM_020549.4(CHAT):c.1381=:p.Met461=	coding	Benign
10	49649516	G	A	G49649516A	CHAT	NM_020549.4(CHAT):c.1391G>A:p.Ser464Asn	coding	Benign
10	49649618	C	T	C49649618T	CHAT	NM_020549.4(CHAT):c.1493C>T:p.Ser498Leu	coding	Pathogenic
10	49649789	T	C	T49649789C	CHAT	NM_020549.4(CHAT):c.1511+153T>C	noncoding	Benign
10	49649803	C	T	C49649803T	CHAT	NM_020549.4(CHAT):c.1511+167C>T	noncoding	Benign
10	49649844	T	C	T49649844C	CHAT	NM_020549.4(CHAT):c.1511+208T>C	noncoding	Benign
10	49649931	A	G	A49649931G	CHAT	NM_020549.4(CHAT):c.1511+295A>G	noncoding	Benign
10	49651583	T	G	T49651583G	CHAT	NM_020549.4(CHAT):c.1512-301T>G	noncoding	Benign
10	49651888	G	T	G49651888T	CHAT	NM_020549.4(CHAT):c.1516G>T:p.Val506Leu	coding	Pathogenic
10	49652183	C	G	C49652183G	CHAT	NM_020549.4(CHAT):c.1634+177C>G	noncoding	Benign
10	49652189	A	G	A49652189G	CHAT	NM_020549.4(CHAT):c.1634+183A>G	noncoding	Benign
10	49652337	T	C	T49652337C	CHAT	NM_020549.4(CHAT):c.1634+331T>C	noncoding	Benign
10	49655037	A	C	A49655037C	CHAT	NM_020549.4(CHAT):c.1635-58A>C	noncoding	Benign
10	49655101	T	C	T49655101C	CHAT	NM_020549.4(CHAT):c.1641T>C:p.His547=	coding	Benign
10	49655102	C	T	C49655102T	CHAT	NM_020549.4(CHAT):c.1642C>T:p.Arg548Ter	coding	Pathogenic
10	49655114	C	T	C49655114T	CHAT	NM_020549.4(CHAT):c.1654C>T:p.Pro552Ser	coding	Benign
10	49655134	C	T	C49655134T	CHAT	NM_020549.4(CHAT):c.1674C>T:p.Ser558=	coding	Benign
10	49655142	G	A	G49655142A	CHAT	NM_020549.4(CHAT):c.1682G>A:p.Arg561Gln	coding	Benign/Likely_benign
10	49655519	C	T	C49655519T	CHAT	NM_020549.4(CHAT):c.1839+71C>T	noncoding	Benign
10	49655577	A	G	A49655577G	CHAT	NM_020549.4(CHAT):c.1839+129A>G	noncoding	Benign
10	49662454	G	A	G49662454A	CHAT	NM_020549.4(CHAT):c.1840-191G>A	noncoding	Benign
10	49662473	T	C	T49662473C	CHAT	NM_020549.4(CHAT):c.1840-172T>C	noncoding	Benign
10	49664866	C	T	C49664866T	CHAT	NM_020549.4(CHAT):c.2067C>T:p.Ile689=	coding	Benign
10	49664880	C	G	C49664880G	CHAT	NM_020549.4(CHAT):c.2081C>G:p.Ser694Cys	coding	Pathogenic
10	49735330	C	T	C49735330T	OGDHL	NM_018245.3(OGDHL):c.2931G>A:p.Ala977=	coding	Benign
10	49742845	C	T	C49742845T	OGDHL	NM_018245.3(OGDHL):c.1995G>A:p.Val665=	coding	Benign
10	49742857	G	A	G49742857A	OGDHL	NM_018245.3(OGDHL):c.1983C>T:p.Ser661=	coding	Benign
10	49742972	G	C	G49742972C	OGDHL	NM_018245.3(OGDHL):c.1868C>G:p.Ser623Cys	coding	Benign
10	49743987	A	G	A49743987G	OGDHL	NM_018245.3(OGDHL):c.1861+7T>C	noncoding	Benign
10	49746804	G	A	G49746804A	OGDHL	NM_018245.3(OGDHL):c.1242C>T:p.Ser414=	coding	Benign
10	49746822	A	G	A49746822G	OGDHL	NM_018245.3(OGDHL):c.1224T>C:p.Tyr408=	coding	Benign
10	49747106	G	A	G49747106A	OGDHL	NM_018245.3(OGDHL):c.1090C>T:p.Leu364=	coding	Benign
10	50816265	G	A	G50816265A	A1CF	NM_014576.4(A1CF):c.882C>T:p.Ser294=	coding	Benign
10	50836093	C	T	C50836093T	A1CF	NM_014576.4(A1CF):c.585G>A:p.Ala195=	coding	Benign
10	50843994	A	G	A50843994G	A1CF	NM_014576.4(A1CF):c.228T>C:p.Cys76=	coding	Benign
10	50844114	T	C	T50844114C	A1CF	NM_014576.4(A1CF):c.108A>G:p.Gly36=	coding	Benign
10	51074560	C	T	C51074560T	PRKG1	NM_006258.4(PRKG1):c.-31C>T	coding	Benign
10	51153173	T	C	T51153173C	PRKG1	NM_006258.4(PRKG1):c.321T>C:p.Asp107=	coding	Benign/Likely_benign
10	51153260	G	A	G51153260A	PRKG1	NM_006258.4(PRKG1):c.408G>A:p.Pro136=	coding	Benign
10	51153278	C	T	C51153278T	PRKG1	NM_006258.4(PRKG1):c.426C>T:p.Asp142=	coding	Benign/Likely_benign
10	51467714	C	T	C51467714T	PRKG1	NM_006258.4(PRKG1):c.479-9C>T	noncoding	Benign
10	51467766	C	T	C51467766T	PRKG1	NM_006258.4(PRKG1):c.522C>T:p.Thr174=	coding	Benign/Likely_benign
10	51467790	G	A	G51467790A	PRKG1	NM_006258.4(PRKG1):c.546G>A:p.Gly182=	coding	Benign/Likely_benign
10	51467819	G	A	G51467819A	PRKG1	NM_006258.4(PRKG1):c.575G>A:p.Arg192Gln	coding	Pathogenic
10	51804667	C	T	C51804667T	PRKG1	NM_006258.4(PRKG1):c.675C>T:p.Thr225=	coding	Benign
10	51907683	C	T	C51907683T	PRKG1	NM_006258.4(PRKG1):c.762+113C>T	noncoding	Benign
10	51907716	G	A	G51907716A	PRKG1	NM_006258.4(PRKG1):c.762+146G>A	noncoding	Benign
10	51907826	C	A	C51907826A	PRKG1	NM_006258.4(PRKG1):c.762+256C>A	noncoding	Benign
10	51907844	G	T	G51907844T	PRKG1	NM_006258.4(PRKG1):c.762+274G>T	noncoding	Benign
10	52054188	A	G	A52054188G	PRKG1	NM_006258.4(PRKG1):c.763-296A>G	noncoding	Benign
10	52054193	A	C	A52054193C	PRKG1	NM_006258.4(PRKG1):c.763-291A>C	noncoding	Benign
10	52054469	G	T	G52054469T	PRKG1	NM_006258.4(PRKG1):c.763-15G>T	noncoding	Benign
10	52054575	G	T	G52054575T	PRKG1	NM_006258.4(PRKG1):c.840+14G>T	noncoding	Benign
10	52054623	C	T	C52054623T	PRKG1	NM_006258.4(PRKG1):c.840+62C>T	noncoding	Benign
10	52062541	A	G	A52062541G	PRKG1	NM_006258.4(PRKG1):c.845A>G:p.Asn282Ser	coding	Benign
10	52062584	T	C	T52062584C	PRKG1	NM_006258.4(PRKG1):c.888T>C:p.Leu296=	coding	Benign
10	52062602	A	C	A52062602C	PRKG1	NM_006258.4(PRKG1):c.906A>C:p.Gly302=	coding	Benign/Likely_benign
10	52062893	C	T	C52062893T	PRKG1	NM_006258.4(PRKG1):c.935+262C>T	noncoding	Benign
10	52133545	C	A	C52133545A	PRKG1	NM_006258.4(PRKG1):c.936-295C>A	noncoding	Benign
10	52133624	C	T	C52133624T	PRKG1	NM_006258.4(PRKG1):c.936-216C>T	noncoding	Benign
10	52133770	T	C	T52133770C	PRKG1	NM_006258.4(PRKG1):c.936-70T>C	noncoding	Benign
10	52133779	A	T	A52133779T	PRKG1	NM_006258.4(PRKG1):c.936-61A>T	noncoding	Benign
10	52134128	G	A	G52134128A	PRKG1	NM_006258.4(PRKG1):c.1001+223G>A	noncoding	Benign
10	52161880	G	A	G52161880A	PRKG1	NM_006258.4(PRKG1):c.1002-9G>A	noncoding	Benign/Likely_benign
10	52161895	T	C	T52161895C	PRKG1	NM_006258.4(PRKG1):c.1008T>C:p.Phe336=	coding	Benign
10	52161904	G	A	G52161904A	PRKG1	NM_006258.4(PRKG1):c.1017G>A:p.Leu339=	coding	Benign/Likely_benign
10	52161913	G	A	G52161913A	PRKG1	NM_006258.4(PRKG1):c.1026G>A:p.Gly342=	coding	Benign/Likely_benign
10	52161958	A	G	A52161958G	PRKG1	NM_006258.4(PRKG1):c.1071A>G:p.Lys357=	coding	Benign/Likely_benign
10	52161994	C	A	C52161994A	PRKG1	NM_006258.4(PRKG1):c.1076+31C>A	noncoding	Benign
10	52162077	G	C	G52162077C	PRKG1	NM_006258.4(PRKG1):c.1076+114G>C	noncoding	Benign
10	52162088	A	C	A52162088C	PRKG1	NM_006258.4(PRKG1):c.1076+125A>C	noncoding	Benign
10	52251573	T	C	T52251573C	PRKG1	NM_006258.4(PRKG1):c.1080T>C:p.Tyr360=	coding	Benign
10	52251880	C	A	C52251880A	PRKG1	NM_006258.4(PRKG1):c.1173+214C>A	noncoding	Benign
10	52251881	T	A	T52251881A	PRKG1	NM_006258.4(PRKG1):c.1173+215T>A	noncoding	Benign
10	52251905	A	G	A52251905G	PRKG1	NM_006258.4(PRKG1):c.1173+239A>G	noncoding	Benign
10	52271133	T	C	T52271133C	PRKG1	NM_006258.4(PRKG1):c.1174-217T>C	noncoding	Benign
10	52271466	G	A	G52271466A	PRKG1	NM_006258.4(PRKG1):c.1290G>A:p.Gly430=	coding	Benign
10	52271475	C	T	C52271475T	PRKG1	NM_006258.4(PRKG1):c.1299C>T:p.Ser433=	coding	Benign/Likely_benign
10	52271683	T	C	T52271683C	PRKG1	NM_006258.4(PRKG1):c.1313+194T>C	noncoding	Benign
10	52272509	A	G	A52272509G	PRKG1	NM_006258.4(PRKG1):c.1403+28A>G	noncoding	Benign
10	52280910	C	T	C52280910T	PRKG1	NM_006258.4(PRKG1):c.1525C>T:p.His509Tyr	coding	Benign
10	52282494	G	A	G52282494A	PRKG1	NM_006258.4(PRKG1):c.1709+178G>A	noncoding	Benign
10	52288474	G	A	G52288474A	PRKG1	NM_006258.4(PRKG1):c.1710-252G>A	noncoding	Benign
10	52289163	A	G	A52289163G	PRKG1	NM_006258.4(PRKG1):c.1895+170A>G	noncoding	Benign
10	52289961	G	A	G52289961A	PRKG1	NM_006258.4(PRKG1):c.1896-263G>A	noncoding	Benign
10	52290319	G	A	G52290319A	PRKG1	NM_006258.4(PRKG1):c.1962+29G>A	noncoding	Benign
10	52293786	T	G	T52293786G	PRKG1	NM_006258.4(PRKG1):c.1963-16T>G	noncoding	Benign/Likely_benign
10	52314480	A	C	A52314480C	DKK1	NM_012242.4(DKK1):c.46A>C:p.Met16Leu	coding	Benign
10	52314917	C	T	C52314917T	DKK1	NM_012242.4(DKK1):c.244-6C>T	noncoding	Benign
10	52316550	G	A	G52316550A	DKK1	NM_012242.4(DKK1):c.548-4G>A	noncoding	Benign
10	52768506	G	C	G52768506C	MBL2	NM_001378373.1(MBL2):c.378C>G:p.Leu126=	coding	Benign/Likely_benign
10	52771466	C	T	C52771466T	MBL2	NM_001378373.1(MBL2):c.170G>A:p.Gly57Glu	coding	Benign/Likely_benign
10	52771475	C	T	C52771475T	MBL2	NM_000242.2(MBL2):c.161G>A	coding	Pathogenic
10	52771482	G	A	G52771482A	MBL2	NM_000242.2(MBL2):c.154C>T	coding	Pathogenic
10	53806646	T	G	T53806646G	PCDH15	NM_001142771.2(PCDH15):c.4982A>C:p.Gln1661Pro	coding	Benign
10	53806678	C	T	C53806678T	PCDH15	NM_001142771.2(PCDH15):c.4950G>A:p.Lys1650=	coding	Benign
10	53806942	C	T	C53806942T	PCDH15	NM_001142771.2(PCDH15):c.4686G>A:p.Thr1562=	coding	Benign/Likely_benign
10	53808767	C	T	C53808767T	PCDH15	NM_001384140.1(PCDH15):c.4672-1637G>A	coding	Benign
10	53808770	T	C	T53808770C	PCDH15	NM_001142769.3(PCDH15):c.5295A>G:p.Pro1765=	coding	Benign
10	53808829	C	T	C53808829T	PCDH15	NM_001142771.2(PCDH15):c.4498-1699G>A	coding	Benign
10	53809118	T	G	T53809118G	PCDH15	NM_001142771.2(PCDH15):c.4497+1438A>C	coding	Benign
10	53809211	C	G	C53809211G	PCDH15	NM_001142771.2(PCDH15):c.4497+1345G>C	coding	Benign
10	53809212	T	G	T53809212G	PCDH15	NM_001142771.2(PCDH15):c.4497+1344A>C	coding	Benign
10	53809339	G	A	G53809339A	PCDH15	NM_001142769.3(PCDH15):c.4726C>T:p.Gln1576Ter	coding	Pathogenic
10	53809442	T	G	T53809442G	PCDH15	NM_001142769.3(PCDH15):c.4623A>C:p.Thr1541=	coding	Benign
10	53809447	G	A	G53809447A	PCDH15	NM_001384140.1(PCDH15):c.4671+1109C>T	coding	Benign/Likely_benign
10	53809469	G	A	G53809469A	PCDH15	NM_001384140.1(PCDH15):c.4671+1087C>T	coding	Benign
10	53809503	T	G	T53809503G	PCDH15	NM_001142771.2(PCDH15):c.4497+1053A>C	coding	Benign
10	53810587	C	T	C53810587T	PCDH15	NM_001142770.3(PCDH15):c.4522G>A:p.Val1508Met	coding	Benign
10	53812810	C	T	C53812810T	PCDH15	NM_001142769.3(PCDH15):c.4410-2146G>A	noncoding	Benign
10	53821437	G	A	G53821437A	PCDH15	NM_033056.4(PCDH15):c.*421C>T	coding	Benign
10	53821444	C	G	C53821444G	PCDH15	NM_033056.4(PCDH15):c.*414G>C	coding	Benign
10	53822019	T	C	T53822019C	PCDH15	NM_033056.4(PCDH15):c.5707A>G:p.Ile1903Val	coding	Benign
10	53822067	T	A	T53822067A	PCDH15	NM_033056.4(PCDH15):c.5659A>T:p.Lys1887Ter	coding	Pathogenic
10	53822169	T	G	T53822169G	PCDH15	NM_033056.4(PCDH15):c.5557A>C:p.Met1853Leu	coding	Benign/Likely_benign
10	53822176	G	T	G53822176T	PCDH15	NM_033056.4(PCDH15):c.5550C>A:p.Thr1850=	coding	Benign/Likely_benign
10	53822328	C	T	C53822328T	PCDH15	NM_033056.4(PCDH15):c.5398G>A:p.Val1800Ile	coding	Benign/Likely_benign
10	53822367	G	A	G53822367A	PCDH15	NM_033056.4(PCDH15):c.5359C>T:p.Pro1787Ser	coding	Benign/Likely_benign
10	53822440	A	T	A53822440T	PCDH15	NM_033056.4(PCDH15):c.5286T>A:p.Pro1762=	coding	Benign
10	53822842	A	G	A53822842G	PCDH15	NM_033056.4(PCDH15):c.4884T>C:p.Thr1628=	coding	Benign/Likely_benign
10	53822876	T	C	T53822876C	PCDH15	NM_033056.4(PCDH15):c.4850A>G:p.Asn1617Ser	coding	Benign/Likely_benign
10	53822914	C	A	C53822914A	PCDH15	NM_033056.4(PCDH15):c.4812G>T:p.Arg1604Ser	coding	Benign/Likely_benign
10	53823145	G	T	G53823145T	PCDH15	NM_033056.4(PCDH15):c.4581C>A:p.Pro1527=	coding	Benign
10	53827274	A	G	A53827274G	PCDH15	NM_033056.4(PCDH15):c.4367+119T>C	noncoding	Benign
10	53827426	G	C	G53827426C	PCDH15	NM_033056.4(PCDH15):c.4334C>G:p.Ala1445Gly	coding	Benign/Likely_benign
10	53828377	G	A	G53828377A	PCDH15	NM_033056.4(PCDH15):c.4211+188C>T	noncoding	Benign
10	53828724	G	T	G53828724T	PCDH15	NM_033056.4(PCDH15):c.4203-151C>A	noncoding	Benign
10	53828735	A	G	A53828735G	PCDH15	NM_033056.4(PCDH15):c.4203-162T>C	noncoding	Benign
10	53831090	G	A	G53831090A	PCDH15	NM_033056.4(PCDH15):c.4202+225C>T	noncoding	Benign
10	53831482	A	T	A53831482T	PCDH15	NM_033056.4(PCDH15):c.4035T>A:p.Tyr1345Ter	coding	Pathogenic
10	53831493	G	T	G53831493T	PCDH15	NM_033056.4(PCDH15):c.4024C>A:p.Gln1342Lys	coding	Benign/Likely_benign
10	53831534	C	G	C53831534G	PCDH15	NM_033056.4(PCDH15):c.3984-1G>C	coding	Pathogenic/Likely_pathogenic
10	53831553	G	A	G53831553A	PCDH15	NM_033056.4(PCDH15):c.3984-20C>T	noncoding	Benign
10	53840308	A	G	A53840308G	PCDH15	NM_033056.4(PCDH15):c.3983+12T>C	noncoding	Benign/Likely_benign
10	53840426	G	T	G53840426T	PCDH15	NM_033056.4(PCDH15):c.3877C>A:p.Arg1293=	coding	Benign/Likely_benign
10	53857186	T	A	T53857186A	PCDH15	NM_033056.4(PCDH15):c.3795A>T:p.Glu1265Asp	coding	Benign
10	53857228	A	G	A53857228G	PCDH15	NM_033056.4(PCDH15):c.3753T>C:p.Ile1251=	coding	Benign
10	53857282	G	T	G53857282T	PCDH15	NM_033056.4(PCDH15):c.3718-19C>A	noncoding	Benign
10	53857417	T	C	T53857417C	PCDH15	NM_033056.4(PCDH15):c.3718-154A>G	noncoding	Benign
10	53866607	A	G	A53866607G	PCDH15	NM_033056.4(PCDH15):c.3717+35T>C	noncoding	Benign
10	53866634	C	G	C53866634G	PCDH15	NM_033056.4(PCDH15):c.3717+8G>C	noncoding	Benign/Likely_benign
10	53866698	G	A	G53866698A	PCDH15	NM_033056.4(PCDH15):c.3661C>T:p.Gln1221Ter	coding	Pathogenic
10	53866827	C	T	C53866827T	PCDH15	NM_033056.4(PCDH15):c.3532G>A:p.Val1178Ile	coding	Benign/Likely_benign
10	53866990	G	A	G53866990A	PCDH15	NM_033056.4(PCDH15):c.3502-133C>T	noncoding	Benign
10	53903293	C	T	C53903293T	PCDH15	NM_033056.4(PCDH15):c.3451G>A:p.Gly1151Arg	coding	Benign/Likely_benign
10	53903374	G	A	G53903374A	PCDH15	NM_033056.4(PCDH15):c.3374-4C>T	noncoding	Benign
10	53903438	A	C	A53903438C	PCDH15	NM_033056.4(PCDH15):c.3374-68T>G	noncoding	Benign
10	53903442	T	C	T53903442C	PCDH15	NM_033056.4(PCDH15):c.3374-72A>G	noncoding	Benign
10	53938830	G	A	G53938830A	PCDH15	NM_033056.4(PCDH15):c.3358C>T:p.Arg1120Ter	coding	Pathogenic
10	53938872	G	A	G53938872A	PCDH15	NM_033056.4(PCDH15):c.3316C>T:p.Arg1106Ter	coding	Pathogenic/Likely_pathogenic
10	53941213	T	C	T53941213C	PCDH15	NM_033056.4(PCDH15):c.3123-238A>G	noncoding	Benign
10	53941219	T	G	T53941219G	PCDH15	NM_033056.4(PCDH15):c.3123-244A>C	noncoding	Benign
10	53941308	T	C	T53941308C	PCDH15	NM_033056.4(PCDH15):c.3123-333A>G	noncoding	Benign
10	53959836	C	A	C53959836A	PCDH15	NM_033056.4(PCDH15):c.3018G>T:p.Val1006=	coding	Benign/Likely_benign
10	53959892	C	T	C53959892T	PCDH15	NM_033056.4(PCDH15):c.3010-48G>A	noncoding	Benign
10	53960186	A	G	A53960186G	PCDH15	NM_033056.4(PCDH15):c.3010-342T>C	noncoding	Benign
10	53960187	A	G	A53960187G	PCDH15	NM_033056.4(PCDH15):c.3010-343T>C	noncoding	Benign
10	53961790	G	A	G53961790A	PCDH15	NM_033056.4(PCDH15):c.2971C>T:p.Arg991Ter	coding	Pathogenic
10	53961877	G	A	G53961877A	PCDH15	NM_033056.4(PCDH15):c.2884C>T:p.Arg962Cys	coding	Benign/Likely_benign
10	53962001	A	G	A53962001G	PCDH15	NM_033056.4(PCDH15):c.2869-109T>C	noncoding	Benign
10	53995477	C	T	C53995477T	PCDH15	NM_033056.4(PCDH15):c.2868+172G>A	noncoding	Benign
10	53995580	C	T	C53995580T	PCDH15	NM_033056.4(PCDH15):c.2868+69G>A	noncoding	Benign
10	53995724	G	C	G53995724C	PCDH15	NM_033056.4(PCDH15):c.2793C>G:p.Tyr931Ter	coding	Pathogenic
10	53995731	C	T	C53995731T	PCDH15	NM_033056.4(PCDH15):c.2786G>A:p.Arg929Gln	coding	Benign
10	53995732	G	A	G53995732A	PCDH15	NM_033056.4(PCDH15):c.2785C>T:p.Arg929Ter	coding	Pathogenic/Likely_pathogenic
10	53995840	G	C	G53995840C	PCDH15	NM_033056.4(PCDH15):c.2752-75C>G	noncoding	Benign
10	54020000	C	A	C54020000A	PCDH15	NM_033056.4(PCDH15):c.2751+192G>T	noncoding	Benign
10	54020149	G	C	G54020149C	PCDH15	NM_033056.4(PCDH15):c.2751+43C>G	noncoding	Benign
10	54020155	G	A	G54020155A	PCDH15	NM_033056.4(PCDH15):c.2751+37C>T	noncoding	Benign
10	54020183	A	G	A54020183G	PCDH15	NM_033056.4(PCDH15):c.2751+9T>C	noncoding	Benign
10	54022983	A	G	A54022983G	PCDH15	NM_033056.4(PCDH15):c.2435T>C:p.Ile812Thr	coding	Benign/Likely_benign
10	54023386	A	T	A54023386T	PCDH15	NM_033056.4(PCDH15):c.2221-189T>A	noncoding	Benign
10	54066786	C	A	C54066786A	PCDH15	NM_033056.4(PCDH15):c.2191G>T:p.Glu731Ter	coding	Pathogenic
10	54079190	A	G	A54079190G	PCDH15	NM_033056.4(PCDH15):c.2091+141T>C	noncoding	Benign
10	54079426	T	C	T54079426C	PCDH15	NM_033056.4(PCDH15):c.1998-2A>G	noncoding	Pathogenic/Likely_pathogenic
10	54089983	C	T	C54089983T	PCDH15	NM_033056.4(PCDH15):c.1997+1G>A	noncoding	Pathogenic/Likely_pathogenic
10	54090041	G	C	G54090041C	PCDH15	NM_033056.4(PCDH15):c.1940C>G:p.Ser647Ter	coding	Pathogenic
10	54090054	G	A	G54090054A	PCDH15	NM_033056.4(PCDH15):c.1927C>T:p.Arg643Ter	coding	Pathogenic
10	54132642	C	T	C54132642T	PCDH15	NM_033056.4(PCDH15):c.1917+233G>A	noncoding	Benign
10	54132777	G	T	G54132777T	PCDH15	NM_033056.4(PCDH15):c.1917+98C>A	noncoding	Benign
10	54132882	T	C	T54132882C	PCDH15	NM_033056.4(PCDH15):c.1910A>G:p.Asn637Ser	coding	Benign
10	54132929	A	C	A54132929C	PCDH15	NM_033056.4(PCDH15):c.1863T>G:p.Tyr621Ter	coding	Pathogenic
10	54152921	C	T	C54152921T	PCDH15	NM_033056.4(PCDH15):c.1784+179G>A	noncoding	Benign
10	54153147	G	C	G54153147C	PCDH15	NM_033056.4(PCDH15):c.1737C>G:p.Tyr579Ter	coding	Pathogenic/Likely_pathogenic
10	54153182	C	T	C54153182T	PCDH15	NM_033056.4(PCDH15):c.1702G>A:p.Ala568Thr	coding	Benign/Likely_benign
10	54153361	C	T	C54153361T	PCDH15	NM_033056.4(PCDH15):c.1591-68G>A	noncoding	Benign
10	54153507	T	G	T54153507G	PCDH15	NM_033056.4(PCDH15):c.1591-214A>C	noncoding	Benign
10	54183205	A	G	A54183205G	PCDH15	NM_033056.4(PCDH15):c.1590+239T>C	noncoding	Benign
10	54183424	T	C	T54183424C	PCDH15	NM_033056.4(PCDH15):c.1590+20A>G	noncoding	Benign
10	54183451	A	T	A54183451T	PCDH15	NM_033056.4(PCDH15):c.1583T>A:p.Val528Asp	coding	Pathogenic
10	54185214	C	T	C54185214T	PCDH15	NM_033056.4(PCDH15):c.1360G>A:p.Val454Ile	coding	Benign
10	54189391	G	A	G54189391A	PCDH15	NM_033056.4(PCDH15):c.1306-4123C>T	noncoding	Benign
10	54195684	T	G	T54195684G	PCDH15	NM_033056.4(PCDH15):c.1304A>C:p.Asp435Ala	coding	Benign
10	54195725	A	G	A54195725G	PCDH15	NM_033056.4(PCDH15):c.1263T>C:p.Thr421=	coding	Benign
10	54195779	A	C	A54195779C	PCDH15	NM_033056.4(PCDH15):c.1209T>G:p.Tyr403Ter	coding	Pathogenic
10	54195807	T	C	T54195807C	PCDH15	NM_033056.4(PCDH15):c.1181A>G:p.Tyr394Cys	coding	Benign/Likely_benign
10	54195850	C	T	C54195850T	PCDH15	NM_033056.4(PCDH15):c.1138G>A:p.Gly380Ser	coding	Benign
10	54213829	C	T	C54213829T	PCDH15	NM_033056.4(PCDH15):c.1098+107G>A	noncoding	Benign
10	54213959	G	A	G54213959A	PCDH15	NM_033056.4(PCDH15):c.1075C>T:p.Gln359Ter	coding	Pathogenic
10	54214129	G	A	G54214129A	PCDH15	NM_033056.4(PCDH15):c.986-81C>T	noncoding	Benign
10	54214307	T	A	T54214307A	PCDH15	NM_033056.4(PCDH15):c.986-259A>T	noncoding	Benign
10	54236648	A	T	A54236648T	PCDH15	NM_033056.4(PCDH15):c.985+175T>A	noncoding	Benign
10	54236848	T	C	T54236848C	PCDH15	NM_033056.4(PCDH15):c.960A>G:p.Pro320=	coding	Benign
10	54236960	C	A	C54236960A	PCDH15	NM_033056.4(PCDH15):c.877-29G>T	noncoding	Benign
10	54237001	C	T	C54237001T	PCDH15	NM_033056.4(PCDH15):c.877-70G>A	noncoding	Benign
10	54237025	G	A	G54237025A	PCDH15	NM_033056.4(PCDH15):c.877-94C>T	noncoding	Benign
10	54317000	T	C	T54317000C	PCDH15	NM_033056.4(PCDH15):c.876+271A>G	noncoding	Benign
10	54317359	G	T	G54317359T	PCDH15	NM_033056.4(PCDH15):c.788C>A:p.Pro263Gln	coding	Pathogenic
10	54317362	C	T	C54317362T	PCDH15	NM_033056.4(PCDH15):c.785G>A:p.Gly262Asp	coding	Pathogenic
10	54317414	G	A	G54317414A	PCDH15	NM_033056.4(PCDH15):c.733C>T:p.Arg245Ter	coding	Pathogenic
10	54317449	G	A	G54317449A	PCDH15	NM_033056.4(PCDH15):c.706-8C>T	noncoding	Benign
10	54329308	G	C	G54329308C	PCDH15	NM_033056.4(PCDH15):c.705+288C>G	noncoding	Benign
10	54329371	A	G	A54329371G	PCDH15	NM_033056.4(PCDH15):c.705+225T>C	noncoding	Benign
10	54329406	C	T	C54329406T	PCDH15	NM_033056.4(PCDH15):c.705+190G>A	noncoding	Benign
10	54329463	A	G	A54329463G	PCDH15	NM_033056.4(PCDH15):c.705+133T>C	noncoding	Benign
10	54329807	C	T	C54329807T	PCDH15	NM_033056.4(PCDH15):c.595-101G>A	noncoding	Benign
10	54329958	C	T	C54329958T	PCDH15	NM_033056.4(PCDH15):c.595-252G>A	noncoding	Benign
10	54346392	A	T	A54346392T	PCDH15	NM_033056.4(PCDH15):c.567T>A:p.Tyr189Ter	coding	Pathogenic
10	54346413	T	C	T54346413C	PCDH15	NM_033056.4(PCDH15):c.546A>G:p.Gly182=	coding	Benign/Likely_benign
10	54346487	G	A	G54346487A	PCDH15	NM_033056.4(PCDH15):c.475-3C>T	noncoding	Benign/Likely_benign
10	54369239	G	A	G54369239A	PCDH15	NM_033056.4(PCDH15):c.355C>T:p.Gln119Ter	coding	Pathogenic
10	54369251	C	T	C54369251T	PCDH15	NM_033056.4(PCDH15):c.343G>A:p.Val115Met	coding	Benign/Likely_benign
10	54369306	A	G	A54369306G	PCDH15	NM_033056.4(PCDH15):c.319-31T>C	noncoding	Benign
10	54369526	C	A	C54369526A	PCDH15	NM_033056.4(PCDH15):c.319-251G>T	noncoding	Benign
10	54378826	G	A	G54378826A	PCDH15	NM_033056.4(PCDH15):c.274C>T:p.Gln92Ter	coding	Pathogenic/Likely_pathogenic
10	54378943	C	T	C54378943T	PCDH15	NM_033056.4(PCDH15):c.158-1G>A	coding	Pathogenic
10	54527809	T	C	T54527809C	PCDH15	NM_033056.4(PCDH15):c.157+3A>G	noncoding	Benign
10	54528370	T	A	T54528370A	PCDH15;LOC105378311	NM_033056.4(PCDH15):c.92-493A>T	noncoding	Benign/Likely_benign
10	54528405	G	A	G54528405A	PCDH15	NM_033056.4(PCDH15):c.92-528C>T	noncoding	Pathogenic
10	54663883	C	T	C54663883T	PCDH15	NM_033056.4(PCDH15):c.91+289G>A	noncoding	Benign
10	54664208	A	C	A54664208C	PCDH15	NM_033056.4(PCDH15):c.55T>G:p.Ser19Ala	coding	Benign
10	54664256	G	A	G54664256A	PCDH15	NM_033056.4(PCDH15):c.7C>T:p.Arg3Ter	coding	Pathogenic/Likely_pathogenic
10	54664267	T	C	T54664267C	PCDH15	NM_033056.4(PCDH15):c.-5A>G	noncoding	Benign
10	56358454	A	G	A56358454G	ZWINT	NM_007057.4(ZWINT):c.798T>C:p.Val266=	coding	Benign
10	56359679	G	A	G56359679A	ZWINT	NM_007057.4(ZWINT):c.423+8C>T	noncoding	Benign
10	58227044	G	A	G58227044A	IPMK	NM_152230.5(IPMK):c.372C>T:p.Asn124=	coding	Benign
10	58267516	G	C	G58267516C	IPMK	NM_152230.5(IPMK):c.96C>G:p.Thr32=	coding	Benign
10	58385124	C	T	C58385124T	TFAM	NC_000010.11:g.58385124C>T	noncoding	Benign
10	58385238	C	A	C58385238A	TFAM	NM_001270782.1(TFAM):c.-310C>A	noncoding	Benign
10	58385292	T	G	T58385292G	TFAM	NM_001270782.1(TFAM):c.-256T>G	noncoding	Benign
10	58385319	A	G	A58385319G	TFAM	NM_001270782.1(TFAM):c.-229A>G	noncoding	Benign
10	58385582	G	C	G58385582C	TFAM	NM_003201.3(TFAM):c.35G>C:p.Ser12Thr	coding	Benign
10	58385837	G	C	G58385837C	TFAM	NM_003201.3(TFAM):c.101+189G>C	noncoding	Benign
10	58388024	G	A	G58388024A	TFAM	NM_003201.3(TFAM):c.221-166G>A	noncoding	Benign
10	58388174	T	C	T58388174C	TFAM	NM_003201.3(TFAM):c.221-16T>C	noncoding	Benign
10	58388932	A	G	A58388932G	TFAM	NM_003201.3(TFAM):c.441+113A>G	noncoding	Benign
10	58388991	A	G	A58388991G	TFAM	NM_003201.3(TFAM):c.441+172A>G	noncoding	Benign
10	58394426	G	A	G58394426A	TFAM	NM_003201.3(TFAM):c.594+12G>A	noncoding	Benign
10	58395056	T	C	T58395056C	TFAM	NM_003201.3(TFAM):c.723T>C:p.Tyr241=	coding	Benign
10	58789732	T	C	T58789732C	BICC1	NM_001080512.3(BICC1):c.846T>C:p.Ala282=	coding	Benign
10	58803069	T	C	T58803069C	BICC1	NM_001080512.3(BICC1):c.2016-8T>C	noncoding	Benign
10	58803107	A	T	A58803107T	BICC1	NM_001080512.3(BICC1):c.2046A>T:p.Glu682Asp	coding	Benign
10	58828800	A	G	A58828800G	BICC1	NM_001080512.3(BICC1):c.2834A>G:p.Asn945Ser	coding	Benign
10	59652801	A	C	A59652801C	SLC16A9	NM_194298.2(SLC16A9):c.1501T>G:p.Phe501Val	coding	Benign
10	59653739	G	C	G59653739C	SLC16A9	NM_194298.2(SLC16A9):c.1287C>G:p.Ala429=	coding	Benign
10	59814722	A	G	A59814722G	CCDC6	NM_005436.5(CCDC6):c.616T>C:p.Leu206=	coding	Benign
10	59832645	A	G	A59832645G	CCDC6	NM_005436.5(CCDC6):c.462T>C:p.His154=	coding	Benign
10	60042719	C	T	C60042719T	ANK3	NM_020987.5(ANK3):c.13106G>A:p.Arg4369Gln	coding	Benign/Likely_benign
10	60055954	T	C	T60055954C	ANK3	NM_020987.5(ANK3):c.12769A>G:p.Ile4257Val	coding	Benign
10	60069376	T	C	T60069376C	ANK3	NM_020987.5(ANK3):c.11505A>G:p.Leu3835=	coding	Benign
10	60069928	T	G	T60069928G	ANK3	NM_020987.5(ANK3):c.10953A>C:p.Lys3651Asn	coding	Benign/Likely_benign
10	60070120	C	T	C60070120T	ANK3	NM_020987.5(ANK3):c.10761G>A:p.Thr3587=	coding	Benign/Likely_benign
10	60070498	T	C	T60070498C	ANK3	NM_020987.5(ANK3):c.10383A>G:p.Gln3461=	coding	Benign
10	60070623	G	A	G60070623A	ANK3	NM_020987.5(ANK3):c.10258C>T:p.Leu3420=	coding	Benign
10	60070826	T	C	T60070826C	ANK3	NM_020987.5(ANK3):c.10055A>G:p.Glu3352Gly	coding	Benign/Likely_benign
10	60071199	C	G	C60071199G	ANK3	NM_020987.5(ANK3):c.9682G>C:p.Val3228Leu	coding	Benign
10	60071893	C	G	C60071893G	ANK3	NM_020987.5(ANK3):c.8988G>C:p.Gln2996His	coding	Benign
10	60072373	A	G	A60072373G	ANK3	NM_020987.5(ANK3):c.8508T>C:p.His2836=	coding	Benign/Likely_benign
10	60073166	A	G	A60073166G	ANK3	NM_020987.5(ANK3):c.7715T>C:p.Ile2572Thr	coding	Benign
10	60073576	A	G	A60073576G	ANK3	NM_020987.5(ANK3):c.7305T>C:p.Tyr2435=	coding	Benign/Likely_benign
10	60073656	A	G	A60073656G	ANK3	NM_020987.5(ANK3):c.7225T>C:p.Ser2409Pro	coding	Benign/Likely_benign
10	60073926	C	T	C60073926T	ANK3	NM_020987.5(ANK3):c.6955G>A:p.Asp2319Asn	coding	Benign/Likely_benign
10	60073928	T	C	T60073928C	ANK3	NM_020987.5(ANK3):c.6953A>G:p.Lys2318Arg	coding	Benign/Likely_benign
10	60074035	G	A	G60074035A	ANK3	NM_020987.5(ANK3):c.6846C>T:p.Ser2282=	coding	Benign
10	60074260	G	A	G60074260A	ANK3	NM_020987.5(ANK3):c.6621C>T:p.Pro2207=	coding	Benign
10	60074408	A	G	A60074408G	ANK3	NM_020987.5(ANK3):c.6473T>C:p.Ile2158Thr	coding	Benign
10	60074527	G	A	G60074527A	ANK3	NM_020987.5(ANK3):c.6354C>T:p.His2118=	coding	Benign
10	60074870	G	A	G60074870A	ANK3	NM_020987.5(ANK3):c.6011C>T:p.Ala2004Val	coding	Benign
10	60075118	T	C	T60075118C	ANK3	NM_020987.5(ANK3):c.5763A>G:p.Thr1921=	coding	Benign
10	60080566	C	T	C60080566T	ANK3	NM_020987.5(ANK3):c.4403G>A:p.Arg1468His	coding	Benign
10	60083570	G	A	G60083570A	ANK3	NM_020987.5(ANK3):c.4122C>T:p.Ala1374=	coding	Benign
10	60084692	C	T	C60084692T	ANK3	NM_020987.5(ANK3):c.3984G>A:p.Leu1328=	coding	Benign
10	60108898	G	C	G60108898C	ANK3	NM_020987.5(ANK3):c.3105C>G:p.Pro1035=	coding	Benign/Likely_benign
10	60114284	G	A	G60114284A	ANK3	NM_020987.5(ANK3):c.2889C>T:p.Tyr963=	coding	Benign
10	60138975	C	T	C60138975T	ANK3	NM_020987.5(ANK3):c.2727G>A:p.Ala909=	coding	Benign
10	60139028	A	G	A60139028G	ANK3	NM_020987.5(ANK3):c.2674T>C:p.Leu892=	coding	Benign
10	60139043	G	A	G60139043A	ANK3	NM_020987.5(ANK3):c.2659C>T:p.Gln887Ter	coding	Pathogenic
10	60166831	A	G	A60166831G	ANK3	NM_020987.5(ANK3):c.2544T>C:p.Asp848=	coding	Benign
10	60166852	A	G	A60166852G	ANK3	NM_020987.5(ANK3):c.2523T>C:p.Asn841=	coding	Benign
10	60172894	G	T	G60172894T	ANK3	NM_020987.5(ANK3):c.2382+6C>A	noncoding	Benign
10	60172960	C	G	C60172960G	ANK3	NM_020987.5(ANK3):c.2322G>C:p.Gly774=	coding	Benign
10	60172966	C	T	C60172966T	ANK3	NM_020987.5(ANK3):c.2316G>A:p.Gln772=	coding	Benign/Likely_benign
10	60181410	G	A	G60181410A	ANK3	NM_020987.5(ANK3):c.2103C>T:p.Leu701=	coding	Benign/Likely_benign
10	60198361	C	T	C60198361T	ANK3	NM_020987.5(ANK3):c.1668G>A:p.Ala556=	coding	Benign
10	60200123	G	A	G60200123A	ANK3	NM_020987.5(ANK3):c.1491+6C>T	noncoding	Benign
10	60205795	G	C	G60205795C	ANK3	NM_020987.5(ANK3):c.1290C>G:p.Thr430=	coding	Benign/Likely_benign
10	60205819	G	A	G60205819A	ANK3	NM_020987.5(ANK3):c.1266C>T:p.His422=	coding	Benign
10	60208183	G	A	G60208183A	ANK3	NM_020987.5(ANK3):c.1047C>T:p.Cys349=	coding	Benign
10	60213499	T	G	T60213499G	ANK3	NM_020987.5(ANK3):c.909A>C:p.Thr303=	coding	Benign
10	60261901	C	T	C60261901T	ANK3	NM_020987.5(ANK3):c.756G>A:p.Thr252=	coding	Benign
10	60264023	G	A	G60264023A	ANK3	NM_020987.5(ANK3):c.514-3C>T	noncoding	Benign
10	60270176	G	A	G60270176A	ANK3	NM_020987.5(ANK3):c.468C>T:p.Val156=	coding	Benign
10	60278806	T	C	T60278806C	ANK3	NM_020987.5(ANK3):c.382A>G:p.Thr128Ala	coding	Benign/Likely_benign
10	60792042	C	T	C60792042T	CDK1	NM_001786.5(CDK1):c.642C>T:p.Phe214=	coding	Benign
10	62092199	G	A	G62092199A	ARID5B	NM_032199.3(ARID5B):c.2736G>A:p.Lys912=	coding	Benign
10	62092376	G	A	G62092376A	ARID5B	NM_032199.3(ARID5B):c.2913G>A:p.Ser971=	coding	Benign
10	62655641	G	C	G62655641C	ZNF365	NM_199451.3(ZNF365):c.1130-755G>C	noncoding	Benign
10	62656460	C	T	C62656460T	ZNF365	NM_199451.3(ZNF365):c.1194C>T:p.Asp398=	coding	Benign
10	62666162	C	A	C62666162A	ZNF365	NM_199451.3(ZNF365):c.1254C>A:p.Ile418=	coding	Benign
10	62670237	A	G	A62670237G	ZNF365	NM_199451.3(ZNF365):c.1325A>G:p.Glu442Gly	coding	Benign
10	62812333	T	C	T62812333C	EGR2	NM_000399.5(EGR2):c.*874A>G	noncoding	Benign
10	62812778	C	T	C62812778T	EGR2	NM_000399.5(EGR2):c.*429G>A	noncoding	Benign
10	62812919	C	T	C62812919T	EGR2	NM_000399.5(EGR2):c.*288G>A	noncoding	Benign
10	62812920	A	T	A62812920T	EGR2	NM_000399.5(EGR2):c.*287T>A	noncoding	Benign
10	62813239	C	G	C62813239G	EGR2	NM_000399.5(EGR2):c.1399G>C:p.Ala467Pro	coding	Benign/Likely_benign
10	62813286	C	A	C62813286A	EGR2	NM_000399.5(EGR2):c.1352G>T:p.Gly451Val	coding	Benign/Likely_benign
10	62813404	C	T	C62813404T	EGR2	NM_000399.5(EGR2):c.1234G>A:p.Glu412Lys	coding	Pathogenic
10	62813412	C	T	C62813412T	EGR2	NM_000399.5(EGR2):c.1226G>A:p.Arg409Gln	coding	Pathogenic/Likely_pathogenic
10	62813413	G	A	G62813413A	EGR2	NM_000399.5(EGR2):c.1225C>T:p.Arg409Trp	coding	Pathogenic
10	62813487	T	C	T62813487C	EGR2	NM_000399.5(EGR2):c.1151A>G:p.His384Arg	coding	Pathogenic
10	62813491	C	A	C62813491A	EGR2	NM_000399.5(EGR2):c.1147G>T:p.Asp383Tyr	coding	Pathogenic
10	62813492	A	C	A62813492C	EGR2	NM_000399.5(EGR2):c.1146T>G:p.Ser382Arg	coding	Pathogenic
10	62813496	C	T	C62813496T	EGR2	NM_000399.5(EGR2):c.1142G>A:p.Arg381His	coding	Pathogenic
10	62813497	G	A	G62813497A	EGR2	NM_000399.5(EGR2):c.1141C>T:p.Arg381Cys	coding	Pathogenic
10	62813552	T	G	T62813552G	EGR2	NM_000399.5(EGR2):c.1086A>C:p.Arg362=	coding	Benign
10	62813563	G	A	G62813563A	EGR2	NM_000399.5(EGR2):c.1075C>T:p.Arg359Trp	coding	Pathogenic
10	62813618	G	A	G62813618A	EGR2	NM_000399.5(EGR2):c.1020C>T:p.Tyr340=	coding	Benign
10	62813729	T	G	T62813729G	EGR2	NM_000399.5(EGR2):c.909A>C:p.Ala303=	coding	Benign/Likely_benign
10	62813835	A	T	A62813835T	EGR2	NM_000399.5(EGR2):c.803T>A:p.Ile268Asn	coding	Pathogenic
10	62814104	T	C	T62814104C	EGR2	NM_000399.5(EGR2):c.534A>G:p.Ala178=	coding	Benign/Likely_benign
10	62814392	G	C	G62814392C	EGR2	NM_000399.5(EGR2):c.246C>G:p.Val82=	coding	Benign/Likely_benign
10	62815600	C	G	C62815600G	EGR2	NM_000399.5(EGR2):c.169+261G>C	noncoding	Benign
10	62815650	G	T	G62815650T	EGR2	NM_000399.5(EGR2):c.169+211C>A	noncoding	Benign
10	62815657	T	C	T62815657C	EGR2	NM_000399.5(EGR2):c.169+204A>G	noncoding	Benign
10	62815851	C	A	C62815851A	EGR2	NM_000399.5(EGR2):c.169+10G>T	noncoding	Benign
10	62816557	G	C	G62816557C	EGR2	NM_001136178.2(EGR2):c.-40-488C>G	noncoding	Benign
10	62819222	G	T	G62819222T	EGR2	NC_000010.11:g.62819222G>T	noncoding	Benign
10	62819224	G	A	G62819224A	EGR2	NC_000010.11:g.62819224G>A	noncoding	Benign
10	63168075	C	T	C63168075T	JMJD1C	NM_032776.3(JMJD1C):c.7593G>A:p.Glu2531=	coding	Benign
10	63177741	G	C	G63177741C	JMJD1C	NM_032776.3(JMJD1C):c.7200C>G:p.Asp2400Glu	coding	Benign
10	63184621	C	T	C63184621T	JMJD1C	NM_032776.3(JMJD1C):c.6948G>A:p.Leu2316=	coding	Benign
10	63184735	G	A	G63184735A	JMJD1C	NM_032776.3(JMJD1C):c.6834C>T:p.Tyr2278=	coding	Benign
10	63189165	C	T	C63189165T	JMJD1C	NM_032776.3(JMJD1C):c.6570+3G>A	noncoding	Benign
10	63189449	A	G	A63189449G	JMJD1C	NM_032776.3(JMJD1C):c.6292-3T>C	noncoding	Benign
10	63193074	C	T	C63193074T	JMJD1C	NM_032776.3(JMJD1C):c.5940G>A:p.Pro1980=	coding	Benign
10	63193075	G	A	G63193075A	JMJD1C	NM_032776.3(JMJD1C):c.5939C>T:p.Pro1980Leu	coding	Benign
10	63207259	A	G	A63207259G	JMJD1C	NM_032776.3(JMJD1C):c.4410T>C:p.Ser1470=	coding	Benign
10	63207532	A	G	A63207532G	JMJD1C	NM_032776.3(JMJD1C):c.4137T>C:p.Ser1379=	coding	Benign
10	63207718	A	G	A63207718G	JMJD1C	NM_032776.3(JMJD1C):c.3951T>C:p.Ser1317=	coding	Benign
10	63207862	T	C	T63207862C	JMJD1C	NM_032776.3(JMJD1C):c.3807A>G:p.Glu1269=	coding	Benign
10	63208491	T	C	T63208491C	JMJD1C	NM_032776.3(JMJD1C):c.3178A>G:p.Lys1060Glu	coding	Benign
10	63213539	A	G	A63213539G	JMJD1C	NM_032776.3(JMJD1C):c.2628T>C:p.Leu876=	coding	Benign
10	63214218	G	A	G63214218A	JMJD1C	NM_032776.3(JMJD1C):c.1949C>T:p.Thr650Ile	coding	Benign
10	63214257	T	C	T63214257C	JMJD1C	NM_032776.3(JMJD1C):c.1910A>G:p.Lys637Arg	coding	Benign
10	63214396	T	C	T63214396C	JMJD1C	NM_032776.3(JMJD1C):c.1771A>G:p.Met591Val	coding	Benign
10	63214485	G	C	G63214485C	JMJD1C	NM_032776.3(JMJD1C):c.1682C>G:p.Ser561Cys	coding	Benign
10	63214620	G	C	G63214620C	JMJD1C	NM_032776.3(JMJD1C):c.1547C>G:p.Thr516Ser	coding	Benign
10	63214775	C	T	C63214775T	JMJD1C	NM_032776.3(JMJD1C):c.1392G>A:p.Ser464=	coding	Benign
10	63214788	A	G	A63214788G	JMJD1C	NM_032776.3(JMJD1C):c.1379T>C:p.Met460Thr	coding	Benign
10	63215561	C	T	C63215561T	JMJD1C	NM_032776.3(JMJD1C):c.814G>A:p.Ala272Thr	coding	Benign
10	63215616	A	G	A63215616G	JMJD1C	NM_032776.3(JMJD1C):c.759T>C:p.Gly253=	coding	Benign
10	63215676	G	A	G63215676A	JMJD1C	NM_032776.3(JMJD1C):c.699C>T:p.Val233=	coding	Benign
10	63264644	T	G	T63264644G	JMJD1C	NM_032776.3(JMJD1C):c.447+7A>C	noncoding	Benign
10	63465645	C	T	C63465645T	JMJD1C	NM_032776.3(JMJD1C):c.18G>A:p.Arg6=	coding	Benign
10	63610281	A	G	A63610281G	REEP3	NM_001001330.3(REEP3):c.512A>G:p.Gln171Arg	coding	Benign
10	65920417	C	T	C65920417T	CTNNA3	NM_013266.4(CTNNA3):c.2601G>A:p.Thr867=	coding	Benign
10	65920465	C	T	C65920465T	CTNNA3	NM_013266.4(CTNNA3):c.2553G>A:p.Lys851=	coding	Benign
10	65966756	A	C	A65966756C	CTNNA3	NM_013266.4(CTNNA3):c.2266-10T>G	noncoding	Benign
10	65988785	T	G	T65988785G	CTNNA3	NM_013266.4(CTNNA3):c.2172A>C:p.Pro724=	coding	Benign
10	66069309	T	G	T66069309G	CTNNA3	NM_013266.4(CTNNA3):c.2158A>C:p.Arg720=	coding	Benign
10	66069325	C	T	C66069325T	CTNNA3	NM_013266.4(CTNNA3):c.2142G>A:p.Glu714=	coding	Benign
10	66069334	G	A	G66069334A	CTNNA3	NM_013266.4(CTNNA3):c.2133C>T:p.Ile711=	coding	Benign
10	66103175	G	A	G66103175A	CTNNA3	NM_013266.4(CTNNA3):c.1959C>T:p.Thr653=	coding	Benign
10	66103205	G	A	G66103205A	CTNNA3	NM_013266.4(CTNNA3):c.1929C>T:p.His643=	coding	Benign
10	66280482	G	T	G66280482T	CTNNA3	NM_013266.4(CTNNA3):c.1872C>A:p.Val624=	coding	Benign
10	66379229	G	A	G66379229A	CTNNA3	NM_013266.4(CTNNA3):c.1655C>T:p.Thr552Met	coding	Benign
10	66379273	C	T	C66379273T	CTNNA3	NM_013266.4(CTNNA3):c.1611G>A:p.Ala537=	coding	Benign
10	66379281	G	A	G66379281A	CTNNA3	NM_013266.4(CTNNA3):c.1603C>T:p.Arg535Cys	coding	Benign
10	66379296	C	A	C66379296A	CTNNA3	NM_013266.4(CTNNA3):c.1588G>T:p.Ala530Ser	coding	Benign
10	66379297	A	T	A66379297T	CTNNA3	NM_013266.4(CTNNA3):c.1587T>A:p.Asp529Glu	coding	Benign
10	66766330	A	G	A66766330G	CTNNA3	NM_013266.4(CTNNA3):c.1215T>C:p.Asn405=	coding	Benign
10	66766350	G	T	G66766350T	CTNNA3	NM_013266.4(CTNNA3):c.1195C>A:p.Leu399Ile	coding	Benign
10	66766412	C	T	C66766412T	CTNNA3	NM_013266.4(CTNNA3):c.1133G>A:p.Arg378His	coding	Benign
10	67180317	G	A	G67180317A	CTNNA3	NM_013266.4(CTNNA3):c.1047C>T:p.Asn349=	coding	Benign
10	67219671	T	C	T67219671C	CTNNA3	NM_013266.4(CTNNA3):c.779A>G:p.Gln260Arg	coding	Benign
10	67219708	C	A	C67219708A	CTNNA3	NM_013266.4(CTNNA3):c.742G>T:p.Ala248Ser	coding	Benign
10	67219878	G	A	G67219878A	CTNNA3	NM_013266.4(CTNNA3):c.580-8C>T	noncoding	Benign
10	67521938	G	A	G67521938A	CTNNA3	NM_013266.4(CTNNA3):c.483C>T:p.Leu161=	coding	Benign
10	67521943	A	T	A67521943T	CTNNA3	NM_013266.4(CTNNA3):c.478T>A:p.Ser160Thr	coding	Benign
10	67521974	A	G	A67521974G	CTNNA3	NM_013266.4(CTNNA3):c.460-13T>C	noncoding	Benign
10	67539533	A	G	A67539533G	CTNNA3	NM_013266.4(CTNNA3):c.429T>C:p.Asp143=	coding	Benign
10	67539563	C	T	C67539563T	CTNNA3	NM_013266.4(CTNNA3):c.399G>A:p.Thr133=	coding	Benign
10	67539569	C	T	C67539569T	CTNNA3	NM_013266.4(CTNNA3):c.393G>A:p.Ala131=	coding	Benign
10	67539575	C	T	C67539575T	CTNNA3	NM_013266.4(CTNNA3):c.387G>A:p.Leu129=	coding	Benign
10	67539614	T	G	T67539614G	CTNNA3	NM_013266.4(CTNNA3):c.348A>C:p.Pro116=	coding	Benign
10	67539688	T	A	T67539688A	CTNNA3	NM_013266.4(CTNNA3):c.293-19A>T	noncoding	Benign
10	67606844	T	C	T67606844C	CTNNA3	NM_013266.4(CTNNA3):c.292+13A>G	noncoding	Benign
10	67606868	A	T	A67606868T	CTNNA3	NM_013266.4(CTNNA3):c.281T>A:p.Val94Asp	coding	Pathogenic
10	67606993	C	G	C67606993G	CTNNA3	NM_013266.4(CTNNA3):c.156G>C:p.Ser52=	coding	Benign
10	67647481	G	A	G67647481A	CTNNA3	NM_013266.4(CTNNA3):c.33C>T:p.Ile11=	coding	Benign
10	67797117	C	A	C67797117A	DNAJC12	NM_021800.3(DNAJC12):c.596G>T:p.Ter199Leu	coding	Pathogenic
10	67797189	C	T	C67797189T	DNAJC12	NM_021800.3(DNAJC12):c.524G>A:p.Trp175Ter	coding	Pathogenic
10	67805582	C	G	C67805582G	DNAJC12	NM_021800.3(DNAJC12):c.502+1G>C	noncoding	Pathogenic
10	67805698	A	C	A67805698C	DNAJC12	NM_021800.3(DNAJC12):c.387T>G:p.Cys129Trp	coding	Benign
10	67805713	C	A	C67805713A	DNAJC12	NM_021800.3(DNAJC12):c.372G>T:p.Met124Ile	coding	Benign
10	67805776	C	A	C67805776A	DNAJC12	NM_021800.3(DNAJC12):c.309G>T:p.Trp103Cys	coding	Pathogenic
10	67805789	T	G	T67805789G	DNAJC12	NM_021800.3(DNAJC12):c.298-2A>C	noncoding	Pathogenic
10	67811584	T	C	T67811584C	DNAJC12	NM_021800.3(DNAJC12):c.237A>G:p.Arg79=	coding	Benign
10	67811606	C	G	C67811606G	DNAJC12	NM_021800.3(DNAJC12):c.215G>C:p.Arg72Pro	coding	Pathogenic
10	67811607	G	A	G67811607A	DNAJC12	NM_021800.3(DNAJC12):c.214C>T:p.Arg72Ter	coding	Pathogenic
10	67811634	T	A	T67811634A	DNAJC12	NM_021800.3(DNAJC12):c.187A>T:p.Lys63Ter	coding	Pathogenic
10	67811659	C	T	C67811659T	DNAJC12	NM_021800.3(DNAJC12):c.162G>A:p.Glu54=	coding	Benign
10	67811665	T	A	T67811665A	DNAJC12	NM_021800.3(DNAJC12):c.158-2A>T	noncoding	Pathogenic
10	67823356	G	A	G67823356A	DNAJC12	NM_021800.3(DNAJC12):c.115C>T:p.Leu39=	coding	Benign
10	67823394	T	C	T67823394C	DNAJC12	NM_021800.3(DNAJC12):c.79-2A>G	noncoding	Pathogenic
10	67823401	A	C	A67823401C	DNAJC12	NM_021800.3(DNAJC12):c.79-9T>G	noncoding	Benign
10	67912722	G	A	G67912722A	SIRT1	NM_012238.5(SIRT1):c.1606G>A:p.Glu536Lys	coding	Benign
10	67916341	C	T	C67916341T	SIRT1	NM_012238.5(SIRT1):c.1992C>T:p.Asp664=	coding	Benign
10	68032856	A	T	A68032856T	HERC4	NM_015601.4(HERC4):c.699T>A:p.Pro233=	coding	Benign
10	68109732	C	T	C68109732T	MYPN	NM_032578.3(MYPN):c.-2+9C>T	noncoding	Benign
10	68121733	C	T	C68121733T	MYPN	NM_032578.4(MYPN):c.295C>T:p.Arg99Ter	coding	Pathogenic
10	68121903	C	G	C68121903G	MYPN	NM_032578.4(MYPN):c.465C>G:p.Ala155=	coding	Benign/Likely_benign
10	68122098	G	A	G68122098A	MYPN	NM_032578.4(MYPN):c.660G>A:p.Arg220=	coding	Benign/Likely_benign
10	68122281	A	G	A68122281G	MYPN	NM_032578.4(MYPN):c.843A>G:p.Pro281=	coding	Benign
10	68135513	G	A	G68135513A	MYPN	NM_032578.3(MYPN):c.903-7427G>A	coding	Benign
10	68136579	G	A	G68136579A	MYPN	NM_032578.3(MYPN):c.903-6361G>A	noncoding	Benign
10	68136585	C	T	C68136585T	MYPN	NM_032578.3(MYPN):c.903-6355C>T	noncoding	Benign
10	68136646	C	T	C68136646T	MYPN	NM_032578.3(MYPN):c.903-6294C>T	coding	Benign
10	68142792	T	C	T68142792C	MYPN	NM_032578.3(MYPN):c.903-148T>C	noncoding	Benign
10	68142838	T	C	T68142838C	MYPN	NM_032578.3(MYPN):c.903-102T>C	noncoding	Benign
10	68145436	T	A	T68145436A	MYPN	NM_032578.3(MYPN):c.1079-39T>A	noncoding	Benign
10	68145457	T	C	T68145457C	MYPN	NM_032578.3(MYPN):c.1079-18T>C	noncoding	Benign
10	68145500	C	T	C68145500T	MYPN	NM_032578.4(MYPN):c.1104C>T:p.Gly368=	coding	Benign/Likely_benign
10	68145518	G	A	G68145518A	MYPN	NM_032578.4(MYPN):c.1122G>A:p.Glu374=	coding	Benign/Likely_benign
10	68145525	C	T	C68145525T	MYPN	NM_032578.4(MYPN):c.1129C>T:p.Arg377Ter	coding	Pathogenic
10	68145543	G	A	G68145543A	MYPN	NM_032578.3(MYPN):c.1130+17G>A	noncoding	Benign
10	68145658	C	T	C68145658T	MYPN	NM_032578.3(MYPN):c.1130+132C>T	noncoding	Benign
10	68148133	G	C	G68148133C	MYPN	NM_032578.3(MYPN):c.1131-220G>C	noncoding	Benign
10	68148226	A	G	A68148226G	MYPN	NM_032578.3(MYPN):c.1131-127A>G	noncoding	Benign
10	68148306	A	T	A68148306T	MYPN	NM_032578.3(MYPN):c.1131-47A>T	noncoding	Benign
10	68148356	C	T	C68148356T	MYPN	NM_032578.4(MYPN):c.1134C>T:p.Ile378=	coding	Benign/Likely_benign
10	68148400	T	C	T68148400C	MYPN	NM_032578.4(MYPN):c.1178T>C:p.Val393Ala	coding	Benign
10	68148458	C	A	C68148458A	MYPN	NM_032578.4(MYPN):c.1236C>A:p.Thr412=	coding	Benign/Likely_benign
10	68148483	C	T	C68148483T	MYPN	NM_032578.3(MYPN):c.1245+16C>T	noncoding	Benign
10	68148484	G	A	G68148484A	MYPN	NM_032578.3(MYPN):c.1245+17G>A	noncoding	Benign
10	68148487	A	G	A68148487G	MYPN	NM_032578.3(MYPN):c.1245+20A>G	noncoding	Benign
10	68149756	C	T	C68149756T	MYPN	NM_032578.3(MYPN):c.1246-284C>T	noncoding	Benign
10	68149805	C	T	C68149805T	MYPN	NM_032578.3(MYPN):c.1246-235C>T	noncoding	Benign
10	68149999	T	C	T68149999C	MYPN	NM_032578.3(MYPN):c.1246-41T>C	noncoding	Benign
10	68150021	G	A	G68150021A	MYPN	NM_032578.3(MYPN):c.1246-19G>A	noncoding	Benign
10	68150045	G	A	G68150045A	MYPN	NM_032578.4(MYPN):c.1251G>A:p.Gln417=	coding	Benign
10	68150087	C	A	C68150087A	MYPN	NM_032578.4(MYPN):c.1293C>A:p.Ile431=	coding	Benign/Likely_benign
10	68150142	G	A	G68150142A	MYPN	NM_032578.3(MYPN):c.1317+31G>A	noncoding	Benign
10	68150246	T	A	T68150246A	MYPN	NM_032578.3(MYPN):c.1317+135T>A	noncoding	Benign
10	68158567	G	A	G68158567A	MYPN	NM_032578.4(MYPN):c.1399G>A:p.Glu467Lys	coding	Benign
10	68158833	T	C	T68158833C	MYPN	NM_032578.3(MYPN):c.1459+206T>C	noncoding	Benign
10	68158845	A	G	A68158845G	MYPN	NM_032578.3(MYPN):c.1459+218A>G	noncoding	Benign
10	68161578	T	A	T68161578A	MYPN	NM_032578.3(MYPN):c.1460-151T>A	noncoding	Benign
10	68161715	T	A	T68161715A	MYPN	NM_032578.4(MYPN):c.1460-14T>A	noncoding	Benign/Likely_benign
10	68165781	C	T	C68165781T	MYPN	NM_032578.4(MYPN):c.1563C>T:p.Tyr521=	coding	Benign/Likely_benign
10	68165803	C	T	C68165803T	MYPN	NM_032578.4(MYPN):c.1585C>T:p.Gln529Ter	coding	Pathogenic
10	68165839	G	C	G68165839C	MYPN	NM_032578.3(MYPN):c.1600+21G>C	noncoding	Benign
10	68166032	C	T	C68166032T	MYPN	NM_032578.3(MYPN):c.1600+214C>T	noncoding	Benign
10	68166041	C	T	C68166041T	MYPN	NM_032578.3(MYPN):c.1600+223C>T	noncoding	Benign
10	68166340	T	C	T68166340C	MYPN	NM_032578.4(MYPN):c.1647T>C:p.Ser549=	coding	Benign
10	68166562	C	A	C68166562A	MYPN	NM_032578.4(MYPN):c.1869C>A:p.Thr623=	coding	Benign
10	68166568	C	T	C68166568T	MYPN	NM_032578.4(MYPN):c.1875C>T:p.Pro625=	coding	Benign
10	68166577	C	G	C68166577G	MYPN	NM_032578.4(MYPN):c.1884C>G:p.Phe628Leu	coding	Benign
10	68166586	G	A	G68166586A	MYPN	NM_032578.4(MYPN):c.1893G>A:p.Arg631=	coding	Benign/Likely_benign
10	68166628	C	T	C68166628T	MYPN	NM_032578.4(MYPN):c.1935C>T:p.Pro645=	coding	Benign/Likely_benign
10	68166836	C	T	C68166836T	MYPN	NM_032578.3(MYPN):c.1973+170C>T	noncoding	Benign
10	68166837	G	T	G68166837T	MYPN	NM_032578.3(MYPN):c.1973+171G>T	noncoding	Benign
10	68174164	G	A	G68174164A	MYPN	NM_032578.4(MYPN):c.2072G>A:p.Ser691Asn	coding	Benign
10	68174212	G	A	G68174212A	MYPN	NM_032578.4(MYPN):c.2120G>A:p.Ser707Asn	coding	Benign
10	68174255	C	A	C68174255A	MYPN	NM_032578.4(MYPN):c.2163C>A:p.Ala721=	coding	Benign
10	68174328	A	G	A68174328G	MYPN	NM_032578.4(MYPN):c.2236A>G:p.Thr746Ala	coding	Benign/Likely_benign
10	68174501	C	G	C68174501G	MYPN	NM_032578.4(MYPN):c.2409C>G:p.Ser803Arg	coding	Benign
10	68174502	G	A	G68174502A	MYPN	NM_032578.4(MYPN):c.2410G>A:p.Gly804Arg	coding	Benign
10	68174539	C	T	C68174539T	MYPN	NM_032578.4(MYPN):c.2447C>T:p.Pro816Leu	coding	Benign
10	68174710	A	G	A68174710G	MYPN	NM_032578.3(MYPN):c.2564+54A>G	noncoding	Benign
10	68174778	G	A	G68174778A	MYPN	NM_032578.3(MYPN):c.2564+122G>A	noncoding	Benign
10	68174859	G	T	G68174859T	MYPN	NM_032578.3(MYPN):c.2564+203G>T	noncoding	Benign
10	68175141	A	T	A68175141T	MYPN	NM_032578.3(MYPN):c.2565-182A>T	noncoding	Benign
10	68175478	T	C	T68175478C	MYPN	NM_032578.3(MYPN):c.2703+17T>C	noncoding	Benign
10	68175639	G	T	G68175639T	MYPN	NM_032578.3(MYPN):c.2703+178G>T	noncoding	Benign
10	68188569	T	C	T68188569C	MYPN	NM_032578.3(MYPN):c.2704-336T>C	noncoding	Benign
10	68189081	T	G	T68189081G	MYPN	NM_032578.4(MYPN):c.2880T>G:p.Ser960=	coding	Benign/Likely_benign
10	68189087	T	C	T68189087C	MYPN	NM_032578.4(MYPN):c.2886T>C:p.Val962=	coding	Benign
10	68189135	G	C	G68189135C	MYPN	NM_032578.4(MYPN):c.2925+9G>C	noncoding	Benign
10	68189146	A	C	A68189146C	MYPN	NM_032578.3(MYPN):c.2925+20A>C	noncoding	Benign
10	68194060	T	C	T68194060C	MYPN	NM_032578.3(MYPN):c.2926-303T>C	noncoding	Benign
10	68194172	A	G	A68194172G	MYPN	NM_032578.3(MYPN):c.2926-191A>G	noncoding	Benign
10	68194185	G	A	G68194185A	MYPN	NM_032578.3(MYPN):c.2926-178G>A	noncoding	Benign
10	68194405	G	T	G68194405T	MYPN	NM_032578.4(MYPN):c.2968G>T:p.Glu990Ter	coding	Pathogenic
10	68194532	C	T	C68194532T	MYPN	NM_032578.3(MYPN):c.3075+20C>T	noncoding	Benign/Likely_benign
10	68194533	G	A	G68194533A	MYPN	NM_032578.3(MYPN):c.3075+21G>A	noncoding	Benign
10	68194544	C	T	C68194544T	MYPN	NM_032578.3(MYPN):c.3075+32C>T	noncoding	Benign
10	68194694	A	G	A68194694G	MYPN	NM_032578.3(MYPN):c.3075+182A>G	noncoding	Benign
10	68195383	T	A	T68195383A	MYPN	NM_032578.3(MYPN):c.3076-67T>A	noncoding	Benign
10	68195448	A	C	A68195448C	MYPN	NM_032578.3(MYPN):c.3076-2A>C	noncoding	Pathogenic
10	68195452	G	A	G68195452A	MYPN	NM_032578.4(MYPN):c.3078G>A:p.Gly1026=	coding	Benign
10	68197091	T	C	T68197091C	MYPN	NM_032578.3(MYPN):c.3159-261T>C	noncoding	Benign
10	68197127	G	C	G68197127C	MYPN	NM_032578.3(MYPN):c.3159-225G>C	noncoding	Benign
10	68197155	A	G	A68197155G	MYPN	NM_032578.3(MYPN):c.3159-197A>G	noncoding	Benign
10	68197407	C	T	C68197407T	MYPN	NM_032578.4(MYPN):c.3214C>T:p.Arg1072Ter	coding	Pathogenic
10	68197472	C	T	C68197472T	MYPN	NM_032578.4(MYPN):c.3279C>T:p.Asp1093=	coding	Benign
10	68197583	G	A	G68197583A	MYPN	NM_032578.3(MYPN):c.3285+105G>A	noncoding	Benign
10	68197593	G	A	G68197593A	MYPN	NM_032578.3(MYPN):c.3285+115G>A	noncoding	Benign
10	68197618	C	T	C68197618T	MYPN	NM_032578.3(MYPN):c.3285+140C>T	noncoding	Benign
10	68199176	C	A	C68199176A	MYPN	NM_032578.3(MYPN):c.3286-192C>A	noncoding	Benign
10	68199218	G	T	G68199218T	MYPN	NM_032578.3(MYPN):c.3286-150G>T	noncoding	Benign
10	68199340	G	T	G68199340T	MYPN	NM_032578.3(MYPN):c.3286-28G>T	noncoding	Benign
10	68199485	C	A	C68199485A	MYPN	NM_032578.4(MYPN):c.3403C>A:p.Pro1135Thr	coding	Benign
10	68199499	C	G	C68199499G	MYPN	NM_032578.4(MYPN):c.3417C>G:p.Arg1139=	coding	Benign/Likely_benign
10	68199499	C	T	C68199499T	MYPN	NM_032578.4(MYPN):c.3417C>T:p.Arg1139=	coding	Benign/Likely_benign
10	68199503	G	A	G68199503A	MYPN	NM_032578.4(MYPN):c.3421G>A:p.Ala1141Thr	coding	Benign
10	68199538	C	T	C68199538T	MYPN	NM_032578.4(MYPN):c.3456C>T:p.Thr1152=	coding	Benign/Likely_benign
10	68199586	C	T	C68199586T	MYPN	NM_032578.3(MYPN):c.3493+11C>T	noncoding	Benign
10	68199640	G	A	G68199640A	MYPN	NM_032578.3(MYPN):c.3493+65G>A	noncoding	Benign
10	68199703	T	C	T68199703C	MYPN	NM_032578.3(MYPN):c.3493+128T>C	noncoding	Benign
10	68199810	C	A	C68199810A	MYPN	NM_032578.3(MYPN):c.3493+235C>A	noncoding	Benign
10	68199867	A	G	A68199867G	MYPN	NM_032578.3(MYPN):c.3493+292A>G	noncoding	Benign
10	68202081	G	A	G68202081A	MYPN	NM_032578.3(MYPN):c.3659+87G>A	noncoding	Benign
10	68202107	T	G	T68202107G	MYPN	NM_032578.3(MYPN):c.3659+113T>G	noncoding	Benign
10	68206494	G	A	G68206494A	MYPN	NM_032578.3(MYPN):c.3660-276G>A	noncoding	Benign
10	68206635	T	G	T68206635G	MYPN	NM_032578.3(MYPN):c.3660-135T>G	noncoding	Benign
10	68206756	C	T	C68206756T	MYPN	NM_032578.3(MYPN):c.3660-14C>T	noncoding	Benign
10	68206878	G	A	G68206878A	MYPN	NM_032578.4(MYPN):c.3768G>A:p.Ser1256=	coding	Benign/Likely_benign
10	68210229	C	T	C68210229T	MYPN	NM_032578.3(MYPN):c.3794-57C>T	noncoding	Benign
10	68210338	T	A	T68210338A	MYPN	NM_032578.4(MYPN):c.3846T>A:p.Ser1282Arg	coding	Benign/Likely_benign
10	68231503	C	T	C68231503T	ATOH7	NM_145178.4(ATOH7):c.175G>A:p.Ala59Thr	coding	Pathogenic
10	68231532	T	A	T68231532A	ATOH7	NM_145178.4(ATOH7):c.146A>T:p.Glu49Val	coding	Pathogenic
10	68231542	T	G	T68231542G	ATOH7	NM_145178.4(ATOH7):c.136A>C:p.Asn46His	coding	Pathogenic
10	68418964	C	T	C68418964T	DNA2	NM_001080449.3(DNA2):c.2967+70G>A	noncoding	Benign
10	68419058	A	G	A68419058G	DNA2	NM_001080449.3(DNA2):c.2943T>C:p.Phe981=	coding	Benign
10	68419369	A	T	A68419369T	DNA2	NM_001080449.3(DNA2):c.2788-156T>A	noncoding	Benign
10	68419808	C	T	C68419808T	DNA2	NM_001080449.3(DNA2):c.2782G>A:p.Val928Ile	coding	Benign
10	68422511	A	G	A68422511G	DNA2	NM_001080449.3(DNA2):c.2492+4T>C	noncoding	Benign
10	68422577	G	A	G68422577A	DNA2	NM_001080449.3(DNA2):c.2430C>T:p.Phe810=	coding	Benign
10	68422577	G	C	G68422577C	DNA2	NM_001080449.3(DNA2):c.2430C>G:p.Phe810Leu	coding	Benign
10	68422887	T	C	T68422887C	DNA2	NM_001080449.3(DNA2):c.2212A>G:p.Ile738Val	coding	Benign
10	68422923	C	T	C68422923T	DNA2	NM_001080449.3(DNA2):c.2209-33G>A	noncoding	Benign
10	68423168	C	A	C68423168A	DNA2	NM_001080449.3(DNA2):c.2209-278G>T	noncoding	Benign
10	68430307	G	A	G68430307A	DNA2	NM_001080449.3(DNA2):c.2208+129C>T	noncoding	Benign
10	68431874	C	T	C68431874T	DNA2	NM_001080449.3(DNA2):c.1971G>A:p.Thr657=	coding	Benign
10	68431936	C	T	C68431936T	DNA2	NM_001080449.3(DNA2):c.1909G>A:p.Val637Ile	coding	Pathogenic
10	68431946	C	T	C68431946T	DNA2	NM_001080449.3(DNA2):c.1899G>A:p.Ala633=	coding	Benign
10	68432508	T	C	T68432508C	DNA2	NM_001080449.3(DNA2):c.1649A>G:p.Asn550Ser	coding	Benign/Likely_benign
10	68432544	G	A	G68432544A	DNA2	NM_001080449.3(DNA2):c.1647-34C>T	noncoding	Benign
10	68432852	G	A	G68432852A	DNA2	NM_001080449.3(DNA2):c.1647-342C>T	noncoding	Benign
10	68436823	T	C	T68436823C	DNA2	NM_001080449.3(DNA2):c.1646+188A>G	noncoding	Benign
10	68437072	C	A	C68437072A	DNA2	NM_001080449.3(DNA2):c.1585G>T:p.Ala529Ser	coding	Benign
10	68437154	T	C	T68437154C	DNA2	NM_001080449.3(DNA2):c.1503A>G:p.Gln501=	coding	Benign/Likely_benign
10	68437181	A	G	A68437181G	DNA2	NM_001080449.3(DNA2):c.1476T>C:p.Cys492=	coding	Benign/Likely_benign
10	68442810	G	A	G68442810A	DNA2	NM_001080449.3(DNA2):c.1415+107C>T	noncoding	Benign
10	68442970	C	T	C68442970T	DNA2	NM_001080449.3(DNA2):c.1362G>A:p.Ser454=	coding	Benign
10	68444759	G	T	G68444759T	DNA2	NM_001080449.3(DNA2):c.1220+162C>A	noncoding	Benign
10	68446511	A	C	A68446511C	DNA2	NM_001080449.3(DNA2):c.940-98T>G	noncoding	Benign
10	68450079	C	T	C68450079T	DNA2	NM_001080449.3(DNA2):c.888G>A:p.Pro296=	coding	Benign
10	68465540	G	C	G68465540C	DNA2	NM_001080449.3(DNA2):c.587+127C>G	noncoding	Benign
10	68465747	G	T	G68465747T	DNA2	NM_001080449.3(DNA2):c.507C>A:p.Ala169=	coding	Benign
10	68465763	T	C	T68465763C	DNA2	NM_001080449.3(DNA2):c.491A>G:p.Glu164Gly	coding	Benign
10	68468207	C	T	C68468207T	DNA2	NM_001080449.3(DNA2):c.357G>A:p.Leu119=	coding	Benign
10	68468269	A	G	A68468269G	DNA2	NM_001080449.3(DNA2):c.295T>C:p.Leu99=	coding	Benign
10	68468364	G	A	G68468364A	DNA2	NM_001080449.3(DNA2):c.258-58C>T	noncoding	Benign
10	68468385	A	T	A68468385T	DNA2	NM_001080449.3(DNA2):c.258-79T>A	noncoding	Benign
10	68468492	T	C	T68468492C	DNA2	NM_001080449.3(DNA2):c.258-186A>G	noncoding	Benign
10	68471547	G	A	G68471547A	DNA2	NM_001080449.3(DNA2):c.74+244C>T	noncoding	Benign
10	68471576	C	G	C68471576G	DNA2	NM_001080449.3(DNA2):c.74+215G>C	noncoding	Benign
10	68471655	G	A	G68471655A	DNA2	NM_001080449.3(DNA2):c.74+136C>T	noncoding	Benign
10	68572834	C	T	C68572834T	TET1	NM_030625.3(TET1):c.496C>T:p.Leu166Phe	coding	Benign
10	68572854	A	C	A68572854C	TET1	NM_030625.3(TET1):c.516A>C:p.Leu172=	coding	Benign
10	68573641	G	A	G68573641A	TET1	NM_030625.3(TET1):c.1303G>A:p.Val435Ile	coding	Benign
10	68644831	G	A	G68644831A	TET1	NM_030625.3(TET1):c.2102G>A:p.Ser701Asn	coding	Benign
10	68645135	C	T	C68645135T	TET1	NM_030625.3(TET1):c.2406C>T:p.Asn802=	coding	Benign
10	68645224	G	A	G68645224A	TET1	NM_030625.3(TET1):c.2495G>A:p.Cys832Tyr	coding	Benign
10	68645682	G	T	G68645682T	TET1	NM_030625.3(TET1):c.2953G>T:p.Ala985Ser	coding	Benign
10	68646990	A	G	A68646990G	TET1	NM_030625.3(TET1):c.4261A>G:p.Thr1421Ala	coding	Benign
10	68667092	G	C	G68667092C	TET1	NM_030625.3(TET1):c.4509G>C:p.Arg1503=	coding	Benign
10	68686538	G	A	G68686538A	TET1	NM_030625.3(TET1):c.5235G>A:p.Thr1745=	coding	Benign
10	68686681	G	A	G68686681A	TET1	NM_030625.3(TET1):c.5378G>A:p.Ser1793Asn	coding	Benign
10	68691166	C	T	C68691166T	TET1	NM_030625.3(TET1):c.5763C>T:p.Leu1921=	coding	Benign
10	68691307	G	A	G68691307A	TET1	NM_030625.3(TET1):c.5904G>A:p.Glu1968=	coding	Benign
10	68691790	G	A	G68691790A	TET1	NM_030625.3(TET1):c.6387G>A:p.Ala2129=	coding	Benign
10	68884359	C	A	C68884359A	STOX1	NM_152709.5(STOX1):c.563C>A:p.Thr188Asn	coding	Benign
10	68886298	C	T	C68886298T	STOX1	NM_152709.5(STOX1):c.2502C>T:p.Tyr834=	coding	Benign
10	68913239	C	T	C68913239T	DDX50	NM_024045.2(DDX50):c.717C>T:p.Ser239=	coding	Benign
10	68946391	G	A	G68946391A	DDX50	NM_024045.2(DDX50):c.1975G>A:p.Ala659Thr	coding	Benign
10	68963354	A	G	A68963354G	DDX21	NM_004728.4(DDX21):c.671A>G:p.Lys224Arg	coding	Benign
10	68978961	T	C	T68978961C	DDX21	NM_004728.4(DDX21):c.2022T>C:p.Phe674=	coding	Benign
10	68988416	C	T	C68988416T	KIFBP	NC_000010.11:g.68988416C>T	noncoding	Benign
10	68988900	A	G	A68988900G	KIFBP	NM_015634.4(KIFBP):c.68A>G:p.Glu23Gly	coding	Benign
10	68989028	G	A	G68989028A	KIFBP	NM_015634.4(KIFBP):c.196G>A:p.Gly66Ser	coding	Benign
10	68989082	G	T	G68989082T	KIFBP	NM_015634.4(KIFBP):c.250G>T:p.Glu84Ter	coding	Pathogenic
10	68989100	C	T	C68989100T	KIFBP	NM_015634.4(KIFBP):c.268C>T:p.Arg90Ter	coding	Pathogenic
10	69000156	C	T	C69000156T	KIFBP	NM_015634.4(KIFBP):c.427-268C>T	noncoding	Benign
10	69000515	T	C	T69000515C	KIFBP	NM_015634.4(KIFBP):c.518T>C:p.Met173Thr	coding	Benign/Likely_benign
10	69000610	G	A	G69000610A	KIFBP	NM_015634.4(KIFBP):c.525+88G>A	noncoding	Benign
10	69005119	C	A	C69005119A	KIFBP	NM_015634.4(KIFBP):c.599C>A:p.Ser200Ter	coding	Pathogenic
10	69005741	G	A	G69005741A	KIFBP	NM_015634.4(KIFBP):c.615G>A:p.Lys205=	coding	Benign
10	69009048	T	G	T69009048G	KIFBP	NM_015634.4(KIFBP):c.874+123T>G	noncoding	Benign
10	69011001	C	T	C69011001T	KIFBP	NM_015634.4(KIFBP):c.976C>T:p.Gln326Ter	coding	Pathogenic
10	69015245	T	C	T69015245C	KIFBP	NM_015634.4(KIFBP):c.991-296T>C	noncoding	Benign
10	69015325	T	C	T69015325C	KIFBP	NM_015634.4(KIFBP):c.991-216T>C	noncoding	Benign
10	69015573	G	A	G69015573A	KIFBP	NM_015634.4(KIFBP):c.1023G>A:p.Gln341=	coding	Benign
10	69015939	A	C	A69015939C	KIFBP	NM_015634.4(KIFBP):c.1389A>C:p.Pro463=	coding	Benign/Likely_benign
10	69016203	C	T	C69016203T	KIFBP	NM_015634.4(KIFBP):c.1653C>T:p.Ala551=	coding	Benign
10	69016311	T	C	T69016311C	KIFBP	NM_015634.4(KIFBP):c.1761T>C:p.Pro587=	coding	Benign/Likely_benign
10	69016831	C	T	C69016831T	KIFBP	NM_015634.4(KIFBP):c.*415C>T	noncoding	Benign
10	69016838	A	C	A69016838C	KIFBP	NM_015634.4(KIFBP):c.*422A>C	noncoding	Benign
10	69097207	C	G	C69097207G	SRGN	NM_002727.4(SRGN):c.203C>G:p.Pro68Arg	coding	Benign
10	69103942	C	T	C69103942T	SRGN	NM_002727.4(SRGN):c.299C>T:p.Ser100Phe	coding	Benign
10	69103949	C	T	C69103949T	SRGN	NM_002727.4(SRGN):c.306C>T:p.Ser102=	coding	Benign
10	69227340	C	T	C69227340T	HKDC1	NM_025130.4(HKDC1):c.197C>T:p.Thr66Ile	coding	Benign
10	69265684	C	T	C69265684T	HKDC1	NM_025130.4(HKDC1):c.2472C>T:p.Ala824=	coding	Benign
10	69265789	G	C	G69265789C	HKDC1	NM_025130.4(HKDC1):c.2577G>C:p.Val859=	coding	Benign
10	69278691	G	C	G69278691C	HK1	NM_033500.2(HK1):c.-390-3838G>C	noncoding	Pathogenic
10	69278711	G	C	G69278711C	HK1	NM_033500.2(HK1):c.-390-3818G>C	noncoding	Pathogenic
10	69343841	C	G	C69343841G	HK1	NM_000188.3(HK1):c.78C>G:p.Leu26=	coding	Benign
10	69343961	A	T	A69343961T	HK1	NM_000188.3(HK1):c.198A>T:p.Thr66=	coding	Benign
10	69364887	A	G	A69364887G	HK1	NM_000188.3(HK1):c.480A>G:p.Gln160=	coding	Benign
10	69369438	C	T	C69369438T	HK1	NM_000188.3(HK1):c.692-3C>T	noncoding	Benign
10	69369577	G	A	G69369577A	HK1	NM_000188.3(HK1):c.828G>A:p.Glu276=	coding	Benign/Likely_benign
10	69377095	T	C	T69377095C	HK1	NM_000188.3(HK1):c.1031+6T>C	noncoding	Benign
10	69382555	C	T	C69382555T	HK1	NM_000188.3(HK1):c.1334C>T:p.Ser445Leu	coding	Pathogenic/Likely_pathogenic
10	69382591	C	T	C69382591T	HK1	NM_000188.3(HK1):c.1370C>T:p.Thr457Met	coding	Pathogenic/Likely_pathogenic
10	69382664	G	A	G69382664A	HK1	NM_000188.3(HK1):c.1443G>A:p.Lys481=	coding	Benign
10	69382736	C	T	C69382736T	HK1	NM_000188.3(HK1):c.1515C>T:p.Asn505=	coding	Benign/Likely_benign
10	69384348	T	C	T69384348C	HK1	NM_000188.3(HK1):c.1586T>C:p.Leu529Ser	coding	Pathogenic
10	69384442	C	T	C69384442T	HK1	NM_000188.3(HK1):c.1680C>T:p.Tyr560=	coding	Benign
10	69389268	G	A	G69389268A	HK1	NM_000188.3(HK1):c.2007G>A:p.Glu669=	coding	Benign
10	69392128	C	G	C69392128G	HK1	NM_000188.3(HK1):c.2039C>G:p.Thr680Ser	coding	Pathogenic
10	69392129	C	T	C69392129T	HK1	NM_000188.3(HK1):c.2040C>T:p.Thr680=	coding	Benign
10	69394956	G	A	G69394956A	HK1	NM_000188.3(HK1):c.2226G>A:p.Glu742=	coding	Benign
10	69398757	C	T	C69398757T	HK1	NM_000188.3(HK1):c.2538C>T:p.Arg846=	coding	Benign
10	69398758	G	A	G69398758A	HK1	NM_000188.3(HK1):c.2539G>A:p.Glu847Lys	coding	Pathogenic/Likely_pathogenic
10	69398802	C	T	C69398802T	HK1	NM_000188.3(HK1):c.2583C>T:p.Asp861=	coding	Benign
10	69400994	C	T	C69400994T	HK1	NM_000188.3(HK1):c.2613C>T:p.Phe871=	coding	Benign
10	69401072	C	T	C69401072T	HK1	NM_000188.3(HK1):c.2691C>T:p.Ser897=	coding	Benign
10	69401141	C	T	C69401141T	HK1	NM_000188.3(HK1):c.*6C>T	noncoding	Benign
10	69404895	G	A	G69404895A	TACR2	NM_001057.3(TACR2):c.1128C>T:p.Pro376=	coding	Benign
10	69405055	C	T	C69405055T	TACR2	NM_001057.3(TACR2):c.968G>A:p.Arg323His	coding	Benign
10	69407271	T	C	T69407271C	TACR2	NM_001057.3(TACR2):c.751A>G:p.Thr251Ala	coding	Benign
10	69415924	C	T	C69415924T	TACR2	NM_001057.3(TACR2):c.392+8G>A	noncoding	Benign
10	69416310	T	C	T69416310C	TACR2	NM_001057.3(TACR2):c.14A>G:p.Asp5Gly	coding	Benign
10	69572448	A	G	A69572448G	NEUROG3	NM_020999.4(NEUROG3):c.596T>C:p.Phe199Ser	coding	Benign
10	69572533	A	T	A69572533T	NEUROG3	NM_020999.4(NEUROG3):c.511T>A:p.Ser171Thr	coding	Benign
10	69572545	C	T	C69572545T	NEUROG3	NM_020999.4(NEUROG3):c.499G>A:p.Gly167Arg	coding	Benign
10	69572725	G	T	G69572725T	NEUROG3	NM_020999.4(NEUROG3):c.319C>A:p.Arg107Ser	coding	Pathogenic
10	69572766	C	A	C69572766A	NEUROG3	NM_020999.4(NEUROG3):c.278G>T:p.Arg93Leu	coding	Pathogenic
10	69572821	A	G	A69572821G	NEUROG3	NM_020999.4(NEUROG3):c.223T>C:p.Leu75=	coding	Benign
10	69572882	G	T	G69572882T	NEUROG3	NM_020999.4(NEUROG3):c.162C>A:p.Cys54Ter	coding	Pathogenic
10	69802659	G	T	G69802659T	COL13A1	NM_001130103.2(COL13A1):c.236G>T:p.Arg79Leu	coding	Benign
10	69802660	C	A	C69802660A	COL13A1	NM_001130103.2(COL13A1):c.237C>A:p.Arg79=	coding	Benign
10	69802694	C	T	C69802694T	COL13A1	NM_001130103.2(COL13A1):c.271C>T:p.Arg91Ter	coding	Pathogenic
10	69822378	C	T	C69822378T	COL13A1	NM_001130103.2(COL13A1):c.304C>T:p.Leu102Phe	coding	Benign
10	69822432	C	T	C69822432T	COL13A1	NM_001130103.2(COL13A1):c.358C>T:p.Pro120Ser	coding	Benign
10	69872201	C	T	C69872201T	COL13A1	NM_001130103.2(COL13A1):c.390C>T:p.Pro130=	coding	Benign
10	69880518	G	A	G69880518A	COL13A1	NM_001130103.2(COL13A1):c.451G>A:p.Ala151Thr	coding	Benign
10	69897535	T	C	T69897535C	COL13A1	NM_001130103.2(COL13A1):c.714+4T>C	noncoding	Benign
10	69902750	C	T	C69902750T	COL13A1	NM_001130103.2(COL13A1):c.783C>T:p.Gly261=	coding	Benign
10	69902751	G	A	G69902751A	COL13A1	NM_001130103.2(COL13A1):c.784G>A:p.Glu262Lys	coding	Benign
10	69918293	C	A	C69918293A	COL13A1	NM_001130103.2(COL13A1):c.1005C>A:p.Pro335=	coding	Benign
10	69921930	C	T	C69921930T	COL13A1	NM_001368882.1(COL13A1):c.1138C>T:p.Gln380Ter	coding	Pathogenic
10	69930428	G	A	G69930428A	COL13A1	NM_001368882.1(COL13A1):c.1559G>A:p.Gly520Asp	coding	Pathogenic
10	69930465	A	T	A69930465T	COL13A1	NM_001130103.2(COL13A1):c.1563A>T:p.Gly521=	coding	Benign
10	69935391	G	A	G69935391A	COL13A1	NM_001130103.2(COL13A1):c.1737G>A:p.Pro579=	coding	Benign
10	69937632	C	T	C69937632T	COL13A1	NM_001130103.2(COL13A1):c.1765-3C>T	noncoding	Benign
10	69940982	G	A	G69940982A	COL13A1	NM_001130103.2(COL13A1):c.1846-6G>A	noncoding	Benign
10	70109034	C	T	C70109034T	MACROH2A2	NM_018649.3(MACROH2A2):c.780C>T:p.Ala260=	coding	Benign
10	70111587	G	A	G70111587A	MACROH2A2	NM_018649.3(MACROH2A2):c.1023G>A:p.Ser341=	coding	Benign
10	70146249	A	G	A70146249G	TYSND1	NM_173555.4(TYSND1):c.338T>C:p.Leu113Pro	coding	Benign
10	70233338	T	G	T70233338G	PPA1	NM_021129.4(PPA1):c.-11A>C	noncoding	Benign
10	70255434	C	T	C70255434T	NPFFR1	NM_022146.5(NPFFR1):c.816G>A:p.Leu272=	coding	Benign
10	70255663	C	A	C70255663A	NPFFR1	NM_022146.5(NPFFR1):c.587G>T:p.Arg196Leu	coding	Benign
10	70255673	C	A	C70255673A	NPFFR1	NM_022146.5(NPFFR1):c.577G>T:p.Ala193Ser	coding	Benign
10	70260705	G	A	G70260705A	NPFFR1	NM_022146.5(NPFFR1):c.357C>T:p.Ser119=	coding	Benign
10	70404422	C	T	C70404422T	EIF4EBP2	NM_004096.5(EIF4EBP2):c.21C>T:p.Ser7=	coding	Benign
10	70432050	C	T	C70432050T	NODAL	NM_018055.5(NODAL):c.*886G>A	noncoding	Benign
10	70432196	A	G	A70432196G	NODAL	NM_018055.5(NODAL):c.*740T>C	noncoding	Benign
10	70432214	C	G	C70432214G	NODAL	NM_018055.5(NODAL):c.*722G>C	noncoding	Benign
10	70432457	G	A	G70432457A	NODAL	NM_018055.5(NODAL):c.*479C>T	noncoding	Benign
10	70432532	A	G	A70432532G	NODAL	NM_018055.5(NODAL):c.*404T>C	noncoding	Benign
10	70432580	C	T	C70432580T	NODAL	NM_018055.5(NODAL):c.*356G>A	noncoding	Benign
10	70432874	T	A	T70432874A	NODAL	NM_018055.5(NODAL):c.*62A>T	noncoding	Benign
10	70435354	G	A	G70435354A	NODAL	NM_018055.5(NODAL):c.823C>T:p.Arg275Cys	coding	Pathogenic
10	70435570	C	T	C70435570T	NODAL	NM_018055.5(NODAL):c.607G>A:p.Glu203Lys	coding	Benign/Likely_benign
10	70435586	G	T	G70435586T	NODAL	NM_018055.5(NODAL):c.591C>A:p.Tyr197Ter	coding	Pathogenic
10	70435589	G	C	G70435589C	NODAL	NM_018055.5(NODAL):c.588C>G:p.Leu196=	coding	Benign
10	70435659	A	G	A70435659G	NODAL	NM_018055.5(NODAL):c.518T>C:p.Met173Thr	coding	Benign
10	70435683	T	C	T70435683C	NODAL	NM_018055.5(NODAL):c.494A>G:p.His165Arg	coding	Benign
10	70435820	G	A	G70435820A	NODAL	NM_018055.5(NODAL):c.357C>T:p.Pro119=	coding	Benign
10	70435961	G	A	G70435961A	NODAL	NM_018055.5(NODAL):c.216C>T:p.Asn72=	coding	Benign
10	70441463	G	A	G70441463A	NODAL	NM_018055.5(NODAL):c.193+12C>T	noncoding	Benign
10	70529223	C	A	C70529223A	PALD1	NM_014431.3(PALD1):c.186-6C>A	noncoding	Benign
10	70538924	C	T	C70538924T	PALD1	NM_014431.3(PALD1):c.1485C>T:p.Leu495=	coding	Benign
10	70597964	G	A	G70597964A	PRF1	NM_001083116.3(PRF1):c.*89C>T	noncoding	Benign
10	70598161	G	A	G70598161A	PRF1	NM_001083116.3(PRF1):c.1560C>T:p.Arg520=	coding	Benign
10	70598293	C	T	C70598293T	PRF1	NM_001083116.3(PRF1):c.1428G>A:p.Gly476=	coding	Benign
10	70598336	G	T	G70598336T	PRF1	NM_001083116.3(PRF1):c.1385C>A:p.Ser462Ter	coding	Pathogenic
10	70598372	G	A	G70598372A	PRF1	NM_001083116.3(PRF1):c.1349C>T:p.Thr450Met	coding	Pathogenic
10	70598384	T	G	T70598384G	PRF1	NM_001083116.3(PRF1):c.1337A>C:p.Gln446Pro	coding	Pathogenic/Likely_pathogenic
10	70598417	G	A	G70598417A	PRF1	NM_001083116.3(PRF1):c.1304C>T:p.Thr435Met	coding	Pathogenic
10	70598435	C	T	C70598435T	PRF1	NM_001083116.3(PRF1):c.1286G>A:p.Gly429Glu	coding	Pathogenic
10	70598475	G	A	G70598475A	PRF1	NM_001083116.3(PRF1):c.1246C>T:p.Gln416Ter	coding	Pathogenic
10	70598558	C	A	C70598558A	PRF1	NM_001083116.3(PRF1):c.1163G>T:p.Ser388Ile	coding	Pathogenic
10	70598599	C	T	C70598599T	PRF1	NM_001083116.3(PRF1):c.1122G>A:p.Trp374Ter	coding	Pathogenic
10	70598640	T	A	T70598640A	PRF1	NM_001083116.3(PRF1):c.1081A>T:p.Arg361Trp	coding	Pathogenic
10	70598680	G	A	G70598680A	PRF1	NM_001083116.3(PRF1):c.1041C>T:p.His347=	coding	Benign
10	70598687	G	A	G70598687A	PRF1	NM_001083116.3(PRF1):c.1034C>T:p.Pro345Leu	coding	Pathogenic
10	70598821	G	A	G70598821A	PRF1	NM_001083116.3(PRF1):c.900C>T:p.His300=	coding	Benign
10	70598848	G	A	G70598848A	PRF1	NM_001083116.3(PRF1):c.873C>T:p.Ser291=	coding	Benign
10	70598885	C	T	C70598885T	PRF1	NM_001083116.3(PRF1):c.836G>A:p.Cys279Tyr	coding	Pathogenic
10	70598899	G	A	G70598899A	PRF1	NM_001083116.3(PRF1):c.822C>T:p.Ala274=	coding	Benign
10	70598940	C	T	C70598940T	PRF1	NM_001083116.3(PRF1):c.781G>A:p.Glu261Lys	coding	Pathogenic
10	70598995	G	A	G70598995A	PRF1	NM_001083116.3(PRF1):c.726C>T:p.Cys242=	coding	Benign/Likely_benign
10	70599019	C	T	C70599019T	PRF1	NM_001083116.3(PRF1):c.702G>A:p.Ser234=	coding	Benign
10	70599048	G	A	G70599048A	PRF1	NM_001083116.3(PRF1):c.673C>T:p.Arg225Trp	coding	Pathogenic
10	70599055	G	T	G70599055T	PRF1	NM_001083116.3(PRF1):c.666C>A:p.His222Gln	coding	Pathogenic
10	70599063	C	T	C70599063T	PRF1	NM_001083116.3(PRF1):c.658G>A:p.Gly220Ser	coding	Pathogenic
10	70599089	G	A	G70599089A	PRF1	NM_001083116.3(PRF1):c.632C>T:p.Ala211Val	coding	Benign/Likely_benign
10	70599106	G	A	G70599106A	PRF1	NM_001083116.3(PRF1):c.615C>T:p.Asn205=	coding	Benign
10	70599173	A	C	A70599173C	PRF1	NM_001083116.3(PRF1):c.548T>G:p.Val183Gly	coding	Pathogenic
10	70600375	G	A	G70600375A	PRF1	NM_001083116.3(PRF1):c.528C>T:p.Cys176=	coding	Benign/Likely_benign
10	70600441	T	C	T70600441C	PRF1	NM_001083116.3(PRF1):c.462A>G:p.Ala154=	coding	Benign
10	70600458	C	T	C70600458T	PRF1	NM_001083116.3(PRF1):c.445G>A:p.Gly149Ser	coding	Pathogenic
10	70600459	G	A	G70600459A	PRF1	NM_001083116.3(PRF1):c.444C>T:p.Ala148=	coding	Benign
10	70600468	C	T	C70600468T	PRF1	NM_001083116.3(PRF1):c.435G>A:p.Val145=	coding	Benign
10	70600500	C	T	C70600500T	PRF1	NM_001083116.3(PRF1):c.403G>A:p.Val135Met	coding	Benign
10	70600713	G	A	G70600713A	PRF1	NM_001083116.3(PRF1):c.190C>T:p.Gln64Ter	coding	Pathogenic
10	70600743	G	A	G70600743A	PRF1	NM_001083116.3(PRF1):c.160C>T:p.Arg54Cys	coding	Pathogenic/Likely_pathogenic
10	70600755	C	T	C70600755T	PRF1	NM_001083116.3(PRF1):c.148G>A:p.Val50Met	coding	Pathogenic/Likely_pathogenic
10	70600770	C	T	C70600770T	PRF1	NM_001083116.3(PRF1):c.133G>A:p.Gly45Arg	coding	Pathogenic
10	70600807	C	T	C70600807T	PRF1	NM_001083116.3(PRF1):c.96G>A:p.Lys32=	coding	Benign/Likely_benign
10	70600892	C	T	C70600892T	PRF1	NM_001083116.3(PRF1):c.11G>A:p.Arg4His	coding	Benign/Likely_benign
10	70674989	C	T	C70674989T	ADAMTS14	NM_080722.4(ADAMTS14):c.516C>T:p.Asp172=	coding	Benign
10	70708643	C	T	C70708643T	ADAMTS14	NM_080722.4(ADAMTS14):c.735C>T:p.Gly245=	coding	Benign
10	70708781	G	A	G70708781A	ADAMTS14	NM_080722.4(ADAMTS14):c.870+3G>A	noncoding	Benign
10	70851211	G	A	G70851211A	SGPL1	NM_003901.4(SGPL1):c.261+1G>A	coding	Pathogenic
10	70868393	C	T	C70868393T	SGPL1	NM_003901.4(SGPL1):c.664C>T:p.Arg222Trp	coding	Pathogenic
10	70868394	G	A	G70868394A	SGPL1	NM_003901.4(SGPL1):c.665G>A:p.Arg222Gln	coding	Pathogenic
10	70871964	G	T	G70871964T	SGPL1	NM_003901.4(SGPL1):c.1037G>T:p.Ser346Ile	coding	Pathogenic
10	70876608	C	T	C70876608T	SGPL1	NM_003901.4(SGPL1):c.1513C>T:p.Arg505Ter	coding	Pathogenic
10	70877321	C	T	C70877321T	SGPL1	NM_003901.4(SGPL1):c.1693C>T:p.Pro565Ser	coding	Benign
10	70883697	A	T	A70883697T	PCBD1	NM_000281.4(PCBD1):c.*253T>A	noncoding	Benign
10	70883914	C	T	C70883914T	PCBD1	NM_000281.4(PCBD1):c.*36G>A	noncoding	Benign
10	70883952	A	G	A70883952G	PCBD1	NM_000281.4(PCBD1):c.313T>C:p.Ter105Gln	coding	Pathogenic
10	70883973	G	A	G70883973A	PCBD1	NM_000281.4(PCBD1):c.292C>T:p.Gln98Ter	coding	Pathogenic
10	70884021	A	G	A70884021G	PCBD1	NM_000281.4(PCBD1):c.244T>C:p.Cys82Arg	coding	Pathogenic
10	70884029	G	A	G70884029A	PCBD1	NM_000281.4(PCBD1):c.236C>T:p.Thr79Ile	coding	Pathogenic
10	70888665	G	T	G70888665T	PCBD1	NM_000281.3(PCBD1):c.-132C>A	noncoding	Benign
10	71319247	C	T	C71319247T	SLC29A3	NM_018344.5(SLC29A3):c.-63C>T	noncoding	Benign
10	71322806	A	G	A71322806G	SLC29A3	NM_018344.6(SLC29A3):c.52A>G:p.Arg18Gly	coding	Benign
10	71322893	G	T	G71322893T	SLC29A3	NM_018344.6(SLC29A3):c.139G>T:p.Glu47Ter	coding	Pathogenic
10	71323055	G	A	G71323055A	SLC29A3	NM_018344.6(SLC29A3):c.300+1G>A	coding	Pathogenic
10	71323055	G	C	G71323055C	SLC29A3	NM_018344.6(SLC29A3):c.300+1G>C	coding	Pathogenic
10	71323057	A	G	A71323057G	SLC29A3	NM_018344.6(SLC29A3):c.300+3A>G	noncoding	Benign
10	71344212	T	C	T71344212C	SLC29A3	NM_018344.6(SLC29A3):c.304T>C:p.Tyr102His	coding	Benign
10	71344242	A	G	A71344242G	SLC29A3	NM_018344.6(SLC29A3):c.334A>G:p.Thr112Ala	coding	Benign
10	71344255	T	G	T71344255G	SLC29A3	NM_018344.6(SLC29A3):c.347T>G:p.Met116Arg	coding	Pathogenic
10	71344297	C	T	C71344297T	SLC29A3	NM_018344.6(SLC29A3):c.383+6C>T	noncoding	Benign
10	71344299	A	G	A71344299G	SLC29A3	NM_018344.6(SLC29A3):c.383+8A>G	noncoding	Benign
10	71351657	G	A	G71351657A	SLC29A3	NM_018344.6(SLC29A3):c.479G>A:p.Trp160Ter	coding	Pathogenic
10	71351666	G	T	G71351666T	SLC29A3	NM_018344.6(SLC29A3):c.488G>T:p.Gly163Val	coding	Benign
10	71351676	G	C	G71351676C	SLC29A3	NM_018344.6(SLC29A3):c.498G>C:p.Ala166=	coding	Benign
10	71351775	G	A	G71351775A	SLC29A3	NM_018344.6(SLC29A3):c.597G>A:p.Gln199=	coding	Benign
10	71351785	T	C	T71351785C	SLC29A3	NM_018344.6(SLC29A3):c.607T>C:p.Ser203Pro	coding	Pathogenic
10	71356088	C	T	C71356088T	SLC29A3	NM_018344.6(SLC29A3):c.618C>T:p.Ala206=	coding	Benign
10	71356110	G	A	G71356110A	SLC29A3	NM_018344.6(SLC29A3):c.640G>A:p.Val214Met	coding	Benign/Likely_benign
10	71356184	T	C	T71356184C	SLC29A3	NM_018344.6(SLC29A3):c.714T>C:p.Thr238=	coding	Benign
10	71356185	G	A	G71356185A	SLC29A3	NM_018344.6(SLC29A3):c.715G>A:p.Val239Ile	coding	Benign
10	71361948	C	T	C71361948T	SLC29A3	NM_018344.6(SLC29A3):c.774-6C>T	noncoding	Benign
10	71362011	C	T	C71362011T	SLC29A3	NM_018344.6(SLC29A3):c.831C>T:p.Pro277=	coding	Benign
10	71362022	T	C	T71362022C	SLC29A3	NM_018344.6(SLC29A3):c.842T>C:p.Leu281Pro	coding	Benign
10	71362156	A	G	A71362156G	SLC29A3	NM_018344.6(SLC29A3):c.976A>G:p.Ile326Val	coding	Benign
10	71362181	A	G	A71362181G	SLC29A3	NM_018344.6(SLC29A3):c.1001A>G:p.Asn334Ser	coding	Benign/Likely_benign
10	71362188	T	C	T71362188C	SLC29A3	NM_018344.6(SLC29A3):c.1008T>C:p.Gly336=	coding	Benign
10	71362268	G	A	G71362268A	SLC29A3	NM_018344.6(SLC29A3):c.1088G>A:p.Arg363Gln	coding	Pathogenic
10	71362317	C	T	C71362317T	SLC29A3	NM_018344.6(SLC29A3):c.1137C>T:p.Leu379=	coding	Benign
10	71362326	C	T	C71362326T	SLC29A3	NM_018344.6(SLC29A3):c.1146C>T:p.Phe382=	coding	Benign/Likely_benign
10	71362337	G	A	G71362337A	SLC29A3	NM_018344.6(SLC29A3):c.1157G>A:p.Arg386Gln	coding	Pathogenic
10	71362408	C	T	C71362408T	SLC29A3	NM_018344.6(SLC29A3):c.1228C>T:p.Gln410Ter	coding	Pathogenic
10	71362459	G	A	G71362459A	SLC29A3	NM_018344.6(SLC29A3):c.1279G>A:p.Gly427Ser	coding	Pathogenic
10	71362489	G	A	G71362489A	SLC29A3	NM_018344.6(SLC29A3):c.1309G>A:p.Gly437Arg	coding	Pathogenic
10	71362526	C	G	C71362526G	SLC29A3	NM_018344.6(SLC29A3):c.1346C>G:p.Thr449Arg	coding	Pathogenic
10	71362711	G	T	G71362711T	SLC29A3	NM_018344.6(SLC29A3):c.*103G>T	noncoding	Benign
10	71362732	C	T	C71362732T	SLC29A3	NM_018344.6(SLC29A3):c.*124C>T	noncoding	Benign
10	71362782	G	A	G71362782A	SLC29A3	NM_018344.6(SLC29A3):c.*174G>A	noncoding	Benign
10	71363037	C	T	C71363037T	SLC29A3	NM_018344.6(SLC29A3):c.*429C>T	noncoding	Benign
10	71363313	G	A	G71363313A	SLC29A3	NM_018344.6(SLC29A3):c.*705G>A	noncoding	Benign
10	71397066	G	A	G71397066A	CDH23	NM_022124.6(CDH23):c.-258G>A	noncoding	Benign/Likely_benign
10	71439576	A	G	A71439576G	CDH23	NM_022124.6(CDH23):c.-5-251A>G	noncoding	Benign
10	71439744	C	A	C71439744A	CDH23	NM_022124.6(CDH23):c.-5-83C>A	noncoding	Benign
10	71439831	C	T	C71439831T	CDH23	NM_022124.6(CDH23):c.-1C>T	noncoding	Benign
10	71439838	C	T	C71439838T	CDH23	NM_022124.6(CDH23):c.7C>T:p.Arg3Cys	coding	Benign
10	71439910	C	T	C71439910T	CDH23	NM_022124.6(CDH23):c.67+12C>T	noncoding	Benign
10	71446315	C	T	C71446315T	CDH23	NM_022124.6(CDH23):c.68-3C>T	noncoding	Benign
10	71446530	C	T	C71446530T	CDH23	NM_022124.6(CDH23):c.145+135C>T	noncoding	Benign
10	71509957	T	C	T71509957C	CDH23	NM_022124.6(CDH23):c.146-125T>C	coding	Benign
10	71510080	A	G	A71510080G	CDH23	NM_022124.6(CDH23):c.146-2A>G	noncoding	Pathogenic
10	71510109	A	G	A71510109G	CDH23	NM_022124.6(CDH23):c.173A>G:p.Gln58Arg	coding	Benign/Likely_benign
10	71510140	C	T	C71510140T	CDH23	NM_022124.6(CDH23):c.204C>T:p.Gly68=	coding	Benign/Likely_benign
10	71510225	G	C	G71510225C	CDH23	NM_022124.6(CDH23):c.288+1G>C	coding	Pathogenic
10	71511002	G	A	G71511002A	CDH23	NM_022124.6(CDH23):c.336+1G>A	coding	Pathogenic
10	71511149	T	C	T71511149C	CDH23	NM_022124.6(CDH23):c.366T>C:p.Val122=	coding	Benign
10	71511216	G	A	G71511216A	CDH23	NM_022124.6(CDH23):c.429+4G>A	noncoding	Benign
10	71511225	G	A	G71511225A	CDH23	NM_022124.6(CDH23):c.429+13G>A	noncoding	Benign
10	71511238	A	G	A71511238G	CDH23	NM_022124.6(CDH23):c.429+26A>G	noncoding	Benign
10	71570793	C	T	C71570793T	CDH23	NM_022124.6(CDH23):c.628C>T:p.Gln210Ter	coding	Pathogenic
10	71570848	A	T	A71570848T	CDH23	NM_022124.6(CDH23):c.683A>T:p.Asp228Val	coding	Pathogenic
10	71570884	C	T	C71570884T	CDH23	NM_022124.6(CDH23):c.719C>T:p.Pro240Leu	coding	Pathogenic
10	71577660	T	C	T71577660C	CDH23	NM_022124.6(CDH23):c.754-254T>C	noncoding	Benign
10	71615565	G	A	G71615565A	CDH23	NM_022124.6(CDH23):c.894G>A:p.Leu298=	coding	Benign/Likely_benign
10	71615617	G	A	G71615617A	CDH23	NM_022124.6(CDH23):c.945+1G>A	coding	Pathogenic/Likely_pathogenic
10	71615617	G	T	G71615617T	CDH23	NM_022124.6(CDH23):c.945+1G>T	coding	Pathogenic
10	71617295	C	T	C71617295T	CDH23	NM_022124.6(CDH23):c.1036C>T:p.Pro346Ser	coding	Pathogenic
10	71617296	C	T	C71617296T	CDH23	NM_022124.6(CDH23):c.1037C>T:p.Pro346Leu	coding	Pathogenic
10	71617297	G	A	G71617297A	CDH23	NM_022124.6(CDH23):c.1038G>A:p.Pro346=	coding	Benign
10	71617312	C	T	C71617312T	CDH23	NM_022124.6(CDH23):c.1053C>T:p.Ser351=	coding	Benign
10	71617406	A	G	A71617406G	CDH23	NM_022124.6(CDH23):c.1134+13A>G	coding	Benign/Likely_benign
10	71617415	C	T	C71617415T	CDH23	NM_022124.6(CDH23):c.1134+22C>T	coding	Benign/Likely_benign
10	71617557	C	G	C71617557G	CDH23	NM_022124.6(CDH23):c.1134+164C>G	coding	Benign
10	71643733	A	G	A71643733G	CDH23	NM_022124.6(CDH23):c.1135-128A>G	noncoding	Benign
10	71645917	G	A	G71645917A	CDH23	NM_022124.6(CDH23):c.1227G>A:p.Ala409=	coding	Benign/Likely_benign
10	71646197	T	C	T71646197C	CDH23	NM_022124.6(CDH23):c.1290+217T>C	noncoding	Benign
10	71646591	G	A	G71646591A	CDH23	NM_022124.6(CDH23):c.1423G>A:p.Val475Met	coding	Benign/Likely_benign
10	71646618	G	T	G71646618T	CDH23	NM_022124.6(CDH23):c.1449+1G>T	coding	Pathogenic
10	71646691	G	T	G71646691T	CDH23	NM_022124.6(CDH23):c.1449+74G>T	coding	Benign
10	71646693	C	A	C71646693A	CDH23	NM_022124.6(CDH23):c.1449+76C>A	coding	Benign
10	71646747	T	C	T71646747C	CDH23	NM_022124.6(CDH23):c.1449+130T>C	coding	Benign
10	71675131	G	C	G71675131C	CDH23	NM_022124.6(CDH23):c.1469G>C:p.Gly490Ala	coding	Benign
10	71675149	G	A	G71675149A	CDH23	NM_022124.6(CDH23):c.1487G>A:p.Ser496Asn	coding	Benign
10	71677115	T	A	T71677115A	CDH23	NM_022124.6(CDH23):c.1515-341T>A	noncoding	Benign
10	71677263	A	G	A71677263G	CDH23	NM_022124.6(CDH23):c.1515-193A>G	noncoding	Benign
10	71677616	C	T	C71677616T	CDH23	NM_022124.6(CDH23):c.1675C>T:p.Pro559Ser	coding	Pathogenic
10	71677803	T	C	T71677803C	CDH23	NM_022124.6(CDH23):c.1752+110T>C	noncoding	Benign
10	71679309	A	T	A71679309T	CDH23	NM_022124.6(CDH23):c.1753-78A>T	noncoding	Benign
10	71679344	T	C	T71679344C	CDH23	NM_022124.6(CDH23):c.1753-43T>C	noncoding	Benign
10	71682520	A	G	A71682520G	CDH23	NM_022124.6(CDH23):c.1934A>G:p.Asp645Gly	coding	Pathogenic
10	71687646	G	A	G71687646A	CDH23	NM_022124.6(CDH23):c.1987-1G>A	noncoding	Pathogenic
10	71687798	C	T	C71687798T	CDH23	NM_022124.6(CDH23):c.2059+79C>T	noncoding	Benign
10	71690449	C	G	C71690449G	CDH23	NM_022124.6(CDH23):c.2060-19C>G	noncoding	Benign
10	71694163	G	C	G71694163C	CDH23	NM_022124.6(CDH23):c.2193G>C:p.Thr731=	coding	Benign/Likely_benign
10	71694176	C	T	C71694176T	CDH23	NM_022124.6(CDH23):c.2206C>T:p.Arg736Ter	coding	Pathogenic
10	71694233	C	T	C71694233T	CDH23	NM_022124.6(CDH23):c.2263C>T:p.His755Tyr	coding	Benign
10	71694260	G	A	G71694260A	CDH23	NM_022124.6(CDH23):c.2289+1G>A	coding	Pathogenic
10	71694384	G	A	G71694384A	CDH23	NM_022124.6(CDH23):c.2289+125G>A	noncoding	Benign
10	71694394	C	T	C71694394T	CDH23	NM_022124.6(CDH23):c.2289+135C>T	noncoding	Benign
10	71694499	T	C	T71694499C	CDH23	NM_022124.6(CDH23):c.2289+240T>C	noncoding	Benign
10	71694672	T	A	T71694672A	CDH23	NM_022124.6(CDH23):c.2289+413T>A	noncoding	Benign
10	71694687	A	C	A71694687C	CDH23	NM_022124.6(CDH23):c.2289+428A>C	noncoding	Benign
10	71694726	A	G	A71694726G	CDH23	NM_022124.6(CDH23):c.2289+467A>G	noncoding	Benign
10	71694840	G	A	G71694840A	CDH23	NM_022124.6(CDH23):c.2290-578G>A	noncoding	Benign
10	71694880	T	C	T71694880C	CDH23	NM_022124.6(CDH23):c.2290-538T>C	noncoding	Benign
10	71695150	G	A	G71695150A	CDH23	NM_022124.6(CDH23):c.2290-268G>A	noncoding	Benign
10	71695151	C	T	C71695151T	CDH23	NM_022124.6(CDH23):c.2290-267C>T	noncoding	Benign
10	71695178	C	G	C71695178G	CDH23	NM_022124.6(CDH23):c.2290-240C>G	noncoding	Benign
10	71695444	T	C	T71695444C	CDH23	NM_022124.6(CDH23):c.2316T>C:p.Asn772=	coding	Benign
10	71695516	T	C	T71695516C	CDH23	NM_022124.6(CDH23):c.2388T>C:p.Asp796=	coding	Benign
10	71695551	T	C	T71695551C	CDH23	NM_022124.6(CDH23):c.2397+26T>C	noncoding	Benign
10	71702021	G	T	G71702021T	CDH23	NM_022124.6(CDH23):c.2398-1G>T	noncoding	Pathogenic/Likely_pathogenic
10	71702048	G	A	G71702048A	CDH23	NM_022124.6(CDH23):c.2424G>A:p.Gly808=	coding	Benign
10	71702049	G	T	G71702049T	CDH23	NM_022124.6(CDH23):c.2425G>T:p.Glu809Ter	coding	Pathogenic
10	71702673	G	A	G71702673A	CDH23	NM_022124.6(CDH23):c.2712G>A:p.Pro904=	coding	Benign
10	71704894	C	T	C71704894T	CDH23	NM_022124.6(CDH23):c.2734-17C>T	noncoding	Benign
10	71704958	C	T	C71704958T	CDH23	NM_022124.6(CDH23):c.2781C>T:p.Tyr927=	coding	Benign/Likely_benign
10	71705042	C	T	C71705042T	CDH23	NM_022124.6(CDH23):c.2865C>T:p.Arg955=	coding	Benign/Likely_benign
10	71705276	C	T	C71705276T	CDH23	NM_022124.6(CDH23):c.2953+146C>T	noncoding	Benign
10	71706901	G	A	G71706901A	CDH23	NM_022124.6(CDH23):c.2958G>A:p.Leu986=	coding	Benign/Likely_benign
10	71706952	T	C	T71706952C	CDH23	NM_022124.6(CDH23):c.3009T>C:p.Ser1003=	coding	Benign
10	71707066	C	T	C71707066T	CDH23	NM_022124.6(CDH23):c.3106+17C>T	coding	Benign
10	71709172	G	A	G71709172A	CDH23	NM_022124.6(CDH23):c.3181G>A:p.Glu1061Lys	coding	Pathogenic
10	71709226	C	T	C71709226T	CDH23	NM_022124.6(CDH23):c.3220+15C>T	noncoding	Benign
10	71712663	A	G	A71712663G	CDH23	NM_022124.6(CDH23):c.3221-2A>G	coding	Pathogenic
10	71712685	C	T	C71712685T	CDH23	NM_022124.6(CDH23):c.3241C>T:p.Arg1081Ter	coding	Pathogenic
10	71712737	A	G	A71712737G	CDH23	NM_022124.6(CDH23):c.3293A>G:p.Asn1098Ser	coding	Benign/Likely_benign
10	71713111	C	G	C71713111G	CDH23	NM_022124.6(CDH23):c.3369+298C>G	coding	Benign
10	71713125	C	T	C71713125T	CDH23	NM_022124.6(CDH23):c.3369+312C>T	coding	Benign
10	71723999	T	C	T71723999C	CDH23	NM_022124.6(CDH23):c.3370-46T>C	noncoding	Benign
10	71724016	G	A	G71724016A	CDH23	NM_022124.6(CDH23):c.3370-29G>A	noncoding	Benign
10	71725422	C	T	C71725422T	CDH23	NM_022124.6(CDH23):c.3481C>T:p.Arg1161Ter	coding	Pathogenic
10	71725521	G	A	G71725521A	CDH23	NM_022124.6(CDH23):c.3579+1G>A	coding	Pathogenic
10	71730457	C	T	C71730457T	CDH23	NM_022124.6(CDH23):c.3580-12C>T	noncoding	Benign
10	71730514	A	G	A71730514G	CDH23	NM_022124.6(CDH23):c.3625A>G:p.Thr1209Ala	coding	Benign
10	71730517	C	T	C71730517T	CDH23	NM_022124.6(CDH23):c.3628C>T:p.Gln1210Ter	coding	Pathogenic
10	71730553	G	A	G71730553A	CDH23	NM_022124.6(CDH23):c.3664G>A:p.Ala1222Thr	coding	Benign/Likely_benign
10	71730595	C	T	C71730595T	CDH23	NM_022124.6(CDH23):c.3706C>T:p.Arg1236Ter	coding	Pathogenic
10	71732151	C	T	C71732151T	CDH23	NM_022124.6(CDH23):c.3880C>T:p.Gln1294Ter	coding	Pathogenic
10	71732322	A	G	A71732322G	CDH23	NM_022124.6(CDH23):c.4051A>G:p.Asn1351Asp	coding	Benign
10	71734238	A	T	A71734238T	CDH23;C10orf105	NM_022124.6(CDH23):c.4105-2A>T	noncoding	Pathogenic
10	71734271	G	T	G71734271T	CDH23	NM_022124.6(CDH23):c.4136G>T:p.Arg1379Leu	coding	Pathogenic
10	71734402	T	A	T71734402A	CDH23	NM_022124.6(CDH23):c.4206+61T>A	noncoding	Benign
10	71734472	T	C	T71734472C	CDH23	NM_022124.6(CDH23):c.4206+131T>C	noncoding	Benign
10	71734638	T	C	T71734638C	CDH23	NM_022124.6(CDH23):c.4207-18T>C	noncoding	Benign
10	71734659	G	T	G71734659T	CDH23	NM_022124.6(CDH23):c.4209+1G>T	noncoding	Pathogenic
10	71738484	A	C	A71738484C	CDH23	NM_022124.6(CDH23):c.4210-14A>C	noncoding	Benign
10	71738491	C	T	C71738491T	CDH23	NM_022124.6(CDH23):c.4210-7C>T	noncoding	Benign/Likely_benign
10	71738496	A	G	A71738496G	CDH23	NM_022124.6(CDH23):c.4210-2A>G	coding	Pathogenic
10	71738575	C	T	C71738575T	CDH23	NM_022124.6(CDH23):c.4287C>T:p.Pro1429=	coding	Benign/Likely_benign
10	71738587	T	A	T71738587A	CDH23	NM_022124.6(CDH23):c.4299T>A:p.Pro1433=	coding	Benign
10	71738597	C	T	C71738597T	CDH23	NM_022124.6(CDH23):c.4309C>T:p.Arg1437Ter	coding	Pathogenic
10	71738598	G	A	G71738598A	CDH23	NM_022124.6(CDH23):c.4310G>A:p.Arg1437Gln	coding	Benign/Likely_benign
10	71738629	T	C	T71738629C	CDH23	NM_022124.6(CDH23):c.4341T>C:p.Asp1447=	coding	Benign
10	71738658	G	A	G71738658A	CDH23	NM_022124.6(CDH23):c.4359+11G>A	noncoding	Benign
10	71738887	A	G	A71738887G	CDH23	NM_022124.6(CDH23):c.4359+240A>G	noncoding	Benign
10	71739311	T	C	T71739311C	CDH23	NM_022124.6(CDH23):c.4360-333T>C	noncoding	Benign
10	71739772	G	C	G71739772C	CDH23	NM_022124.6(CDH23):c.4488G>C:p.Gln1496His	coding	Pathogenic
10	71739804	C	G	C71739804G	CDH23	NM_022124.6(CDH23):c.4488+32C>G	noncoding	Benign
10	71740070	G	A	G71740070A	CDH23	NM_022124.6(CDH23):c.4488+298G>A	noncoding	Benign
10	71740842	C	T	C71740842T	CDH23	NM_022124.6(CDH23):c.4509C>T:p.Gly1503=	coding	Benign
10	71741104	C	T	C71741104T	CDH23	NM_022124.6(CDH23):c.4617+154C>T	noncoding	Benign
10	71741617	C	T	C71741617T	CDH23	NM_022124.6(CDH23):c.4618-77C>T	noncoding	Benign
10	71741799	G	A	G71741799A	CDH23	NM_022124.6(CDH23):c.4723G>A:p.Ala1575Thr	coding	Benign
10	71760875	A	C	A71760875C	CDH23	NM_022124.6(CDH23):c.4846-16805A>C	coding	Benign
10	71773420	A	G	A71773420G	CDH23	NM_022124.6(CDH23):c.4846-4260A>G	coding	Benign
10	71777545	C	T	C71777545T	CDH23	NM_022124.6(CDH23):c.4846-135C>T	noncoding	Benign
10	71777631	T	C	T71777631C	CDH23	NM_022124.6(CDH23):c.4846-49T>C	noncoding	Benign
10	71777661	G	C	G71777661C	CDH23	NM_022124.6(CDH23):c.4846-19G>C	noncoding	Benign
10	71777692	G	A	G71777692A	CDH23	NM_022124.6(CDH23):c.4858G>A:p.Val1620Met	coding	Benign/Likely_benign
10	71777711	A	C	A71777711C	CDH23	NM_022124.6(CDH23):c.4877A>C:p.Asp1626Ala	coding	Pathogenic
10	71777857	G	A	G71777857A	CDH23	NM_022124.6(CDH23):c.5023G>A:p.Val1675Ile	coding	Benign
10	71778221	C	T	C71778221T	CDH23	NM_022124.6(CDH23):c.5100C>T:p.Tyr1700=	coding	Benign
10	71778251	C	T	C71778251T	CDH23	NM_022124.6(CDH23):c.5130C>T:p.Ile1710=	coding	Benign
10	71778268	A	C	A71778268C	CDH23	NM_022124.6(CDH23):c.5147A>C:p.Gln1716Pro	coding	Pathogenic
10	71778381	C	T	C71778381T	CDH23	NM_022124.6(CDH23):c.5187+73C>T	noncoding	Benign
10	71779316	G	A	G71779316A	CDH23	NM_022124.6(CDH23):c.5237G>A:p.Arg1746Gln	coding	Pathogenic
10	71779351	C	T	C71779351T	CDH23	NM_022124.6(CDH23):c.5272C>T:p.Gln1758Ter	coding	Pathogenic
10	71779390	C	T	C71779390T	CDH23	NM_022124.6(CDH23):c.5311C>T:p.Arg1771Ter	coding	Pathogenic
10	71784286	G	T	G71784286T	CDH23	NM_022124.6(CDH23):c.5369-1G>T	noncoding	Pathogenic
10	71784329	G	A	G71784329A	CDH23	NM_022124.6(CDH23):c.5411G>A:p.Arg1804Gln	coding	Benign
10	71784336	C	G	C71784336G	CDH23	NM_022124.6(CDH23):c.5418C>G:p.Asp1806Glu	coding	Benign/Likely_benign
10	71784337	G	A	G71784337A	CDH23	NM_022124.6(CDH23):c.5419G>A:p.Val1807Met	coding	Benign
10	71784847	T	C	T71784847C	CDH23	NM_022124.6(CDH23):c.5503-44T>C	noncoding	Benign
10	71784881	A	G	A71784881G	CDH23	NM_022124.6(CDH23):c.5503-10A>G	noncoding	Benign
10	71784929	C	T	C71784929T	CDH23	NM_022124.6(CDH23):c.5541C>T:p.Asn1847=	coding	Benign/Likely_benign
10	71785051	T	C	T71785051C	CDH23	NM_022124.6(CDH23):c.5663T>C:p.Phe1888Ser	coding	Pathogenic
10	71785100	G	A	G71785100A	CDH23	NM_022124.6(CDH23):c.5712G>A:p.Thr1904=	coding	Pathogenic
10	71785101	G	A	G71785101A	CDH23	NM_022124.6(CDH23):c.5712+1G>A	coding	Pathogenic
10	71785667	G	A	G71785667A	CDH23	NM_022124.6(CDH23):c.5749G>A:p.Glu1917Lys	coding	Pathogenic
10	71788945	T	G	T71788945G	CDH23	NM_022124.6(CDH23):c.5826T>G:p.Tyr1942Ter	coding	Pathogenic
10	71789043	G	A	G71789043A	CDH23	NM_022124.6(CDH23):c.5923+1G>A	coding	Pathogenic
10	71790360	C	G	C71790360G	CDH23	NM_022124.6(CDH23):c.5996C>G:p.Thr1999Ser	coding	Benign
10	71790364	C	A	C71790364A	CDH23	NM_022124.6(CDH23):c.6000C>A:p.Tyr2000Ter	coding	Pathogenic
10	71790414	G	A	G71790414A	CDH23	NM_022124.6(CDH23):c.6049+1G>A	coding	Pathogenic/Likely_pathogenic
10	71791123	G	A	G71791123A	CDH23	NM_022124.6(CDH23):c.6050-9G>A	noncoding	Pathogenic
10	71791165	A	C	A71791165C	CDH23	NM_022124.6(CDH23):c.6083A>C:p.Asp2028Ala	coding	Pathogenic
10	71791167	C	T	C71791167T	CDH23	NM_022124.6(CDH23):c.6085C>T:p.Arg2029Trp	coding	Pathogenic
10	71791212	G	A	G71791212A	CDH23	NM_022124.6(CDH23):c.6130G>A:p.Glu2044Lys	coding	Benign
10	71791215	G	A	G71791215A	CDH23	NM_022124.6(CDH23):c.6133G>A:p.Asp2045Asn	coding	Pathogenic
10	71791245	C	T	C71791245T	CDH23	NM_022124.6(CDH23):c.6163C>T:p.Leu2055=	coding	Benign
10	71791279	G	A	G71791279A	CDH23	NM_022124.6(CDH23):c.6197G>A:p.Arg2066Gln	coding	Benign/Likely_benign
10	71791284	A	C	A71791284C	CDH23	NM_022124.6(CDH23):c.6202A>C:p.Thr2068Pro	coding	Pathogenic
10	71791331	G	A	G71791331A	CDH23	NM_022124.6(CDH23):c.6249G>A:p.Pro2083=	coding	Benign/Likely_benign
10	71793247	C	T	C71793247T	CDH23	NM_022124.6(CDH23):c.6319C>T:p.Arg2107Ter	coding	Pathogenic
10	71793265	C	T	C71793265T	CDH23	NM_022124.6(CDH23):c.6337C>T:p.Gln2113Ter	coding	Pathogenic
10	71793272	G	A	G71793272A	CDH23	NM_022124.6(CDH23):c.6344G>A:p.Arg2115His	coding	Pathogenic
10	71793420	C	T	C71793420T	CDH23	NM_022124.6(CDH23):c.6492C>T:p.Ile2164=	coding	Benign/Likely_benign
10	71793524	T	A	T71793524A	CDH23	NM_022124.6(CDH23):c.6596T>A:p.Ile2199Asn	coding	Benign/Likely_benign
10	71793641	G	A	G71793641A	CDH23	NM_022124.6(CDH23):c.6712+1G>A	coding	Pathogenic
10	71797200	G	A	G71797200A	CDH23	NM_022124.6(CDH23):c.6809G>A:p.Arg2270His	coding	Benign
10	71798273	G	A	G71798273A	CDH23	NM_022124.6(CDH23):c.6830-81G>A	noncoding	Benign
10	71798371	G	A	G71798371A	CDH23	NM_022124.6(CDH23):c.6847G>A:p.Val2283Ile	coding	Benign
10	71799095	A	G	A71799095G	CDH23	NM_022124.6(CDH23):c.7055-16A>G	noncoding	Benign
10	71799129	G	A	G71799129A	CDH23	NM_022124.6(CDH23):c.7073G>A:p.Arg2358Gln	coding	Benign
10	71799195	C	T	C71799195T	CDH23	NM_022124.6(CDH23):c.7139C>T:p.Pro2380Leu	coding	Benign
10	71799470	C	T	C71799470T	CDH23	NM_022124.6(CDH23):c.7225-22C>T	noncoding	Benign
10	71799579	G	A	G71799579A	CDH23	NM_022124.6(CDH23):c.7312G>A:p.Glu2438Lys	coding	Pathogenic
10	71799634	G	A	G71799634A	CDH23	NM_022124.6(CDH23):c.7362+5G>A	noncoding	Pathogenic
10	71800740	C	T	C71800740T	CDH23	NM_022124.6(CDH23):c.7467C>T:p.Arg2489=	coding	Benign/Likely_benign
10	71802897	G	C	G71802897C	CDH23	NM_022124.6(CDH23):c.7483-1G>C	noncoding	Pathogenic
10	71802987	G	A	G71802987A	CDH23	NM_022124.6(CDH23):c.7572G>A:p.Ala2524=	coding	Benign
10	71803076	G	T	G71803076T	CDH23	NM_022124.6(CDH23):c.7660+1G>T	coding	Pathogenic
10	71803088	C	T	C71803088T	CDH23	NM_022124.6(CDH23):c.7660+13C>T	noncoding	Benign
10	71803324	G	A	G71803324A	CDH23	NM_022124.6(CDH23):c.7776G>A:p.Trp2592Ter	coding	Pathogenic
10	71803420	G	A	G71803420A	CDH23	NM_022124.6(CDH23):c.7872G>A:p.Glu2624=	coding	Pathogenic
10	71805804	A	T	A71805804T	CDH23	NM_022124.6(CDH23):c.7873-2A>T	noncoding	Pathogenic
10	71805832	C	G	C71805832G	CDH23	NM_022124.6(CDH23):c.7899C>G:p.Tyr2633Ter	coding	Pathogenic
10	71805841	C	G	C71805841G	CDH23	NM_022124.6(CDH23):c.7908C>G:p.Tyr2636Ter	coding	Pathogenic
10	71805986	G	T	G71805986T	CDH23	NM_022124.6(CDH23):c.8053G>T:p.Ala2685Ser	coding	Pathogenic
10	71805998	G	T	G71805998T	CDH23	NM_022124.6(CDH23):c.8064+1G>T	coding	Pathogenic/Likely_pathogenic
10	71806223	C	T	C71806223T	CDH23	NM_022124.6(CDH23):c.8120C>T:p.Pro2707Leu	coding	Benign
10	71806224	G	T	G71806224T	CDH23	NM_022124.6(CDH23):c.8121G>T:p.Pro2707=	coding	Benign
10	71807295	C	T	C71807295T	CDH23	NM_022124.6(CDH23):c.8197C>T:p.Gln2733Ter	coding	Pathogenic
10	71807302	T	C	T71807302C	CDH23	NM_022124.6(CDH23):c.8204T>C:p.Leu2735Pro	coding	Pathogenic
10	71807320	C	A	C71807320A	CDH23	NM_022124.6(CDH23):c.8222C>A:p.Ser2741Ter	coding	Pathogenic
10	71807354	C	T	C71807354T	CDH23	NM_022124.6(CDH23):c.8256C>T:p.Gly2752=	coding	Benign/Likely_benign
10	71809878	C	A	C71809878A	CDH23	NM_022124.6(CDH23):c.8781C>A:p.Tyr2927Ter	coding	Pathogenic
10	71809900	C	T	C71809900T	CDH23	NM_022124.6(CDH23):c.8803C>T:p.Arg2935Ter	coding	Pathogenic
10	71809905	C	T	C71809905T	CDH23	NM_022124.6(CDH23):c.8808C>T:p.Asp2936=	coding	Benign/Likely_benign
10	71809992	C	T	C71809992T	CDH23	NM_022124.6(CDH23):c.8895C>T:p.Pro2965=	coding	Benign/Likely_benign
10	71810004	C	T	C71810004T	CDH23	NM_022124.6(CDH23):c.8907C>T:p.Arg2969=	coding	Benign
10	71810017	G	T	G71810017T	CDH23	NM_022124.6(CDH23):c.8920G>T:p.Glu2974Ter	coding	Pathogenic
10	71810506	C	G	C71810506G	CDH23	NM_022124.6(CDH23):c.9014C>G:p.Ala3005Gly	coding	Benign/Likely_benign
10	71810570	G	A	G71810570A	CDH23	NM_022124.6(CDH23):c.9077+1G>A	coding	Pathogenic
10	71810577	G	A	G71810577A	CDH23	NM_022124.6(CDH23):c.9077+8G>A	noncoding	Benign
10	71811516	G	A	G71811516A	CDH23	NM_022124.6(CDH23):c.9204G>A:p.Ala3068=	coding	Benign/Likely_benign
10	71811764	G	A	G71811764A	PSAP;CDH23	NM_022124.6(CDH23):c.9319+11G>A	noncoding	Benign/Likely_benign
10	71811862	C	G	C71811862G	CDH23	NM_022124.6(CDH23):c.9320-93C>G	noncoding	Benign
10	71812008	T	C	T71812008C	PSAP;CDH23	NM_022124.6(CDH23):c.9373T>C:p.Phe3125Leu	coding	Benign/Likely_benign
10	71812511	C	T	C71812511T	CDH23	NM_022124.6(CDH23):c.9412C>T:p.Arg3138Trp	coding	Pathogenic
10	71812537	G	A	G71812537A	CDH23	NM_022124.6(CDH23):c.9438G>A:p.Ala3146=	coding	Benign/Likely_benign
10	71812622	C	T	C71812622T	PSAP;CDH23	NM_022124.6(CDH23):c.9510+13C>T	noncoding	Benign/Likely_benign
10	71812813	C	T	C71812813T	CDH23	NM_022124.6(CDH23):c.9556C>T:p.Arg3186Ter	coding	Pathogenic
10	71814971	A	C	A71814971C	CDH23;PSAP	NM_022124.6(CDH23):c.9758A>C:p.Asp3253Ala	coding	Benign/Likely_benign
10	71815086	G	A	G71815086A	PSAP;CDH23	NM_022124.6(CDH23):c.9873G>A:p.Thr3291=	coding	Benign/Likely_benign
10	71815191	C	T	C71815191T	PSAP;CDH23	NM_022124.6(CDH23):c.9978C>T:p.Asn3326=	coding	Benign/Likely_benign
10	71815482	A	G	A71815482G	PSAP;CDH23	NM_022124.6(CDH23):c.*204A>G	noncoding	Benign/Likely_benign
10	71815627	A	G	A71815627G	PSAP;CDH23	NM_022124.6(CDH23):c.*349A>G	noncoding	Benign/Likely_benign
10	71815788	G	A	G71815788A	PSAP;CDH23	NM_022124.6(CDH23):c.*510G>A	noncoding	Benign/Likely_benign
10	71816550	C	T	C71816550T	PSAP;CDH23	NM_002778.4(PSAP):c.*891G>A	noncoding	Benign/Likely_benign
10	71816666	C	T	C71816666T	PSAP	NM_002778.4(PSAP):c.*775G>A	noncoding	Benign
10	71817510	G	A	G71817510A	PSAP	NM_002778.4(PSAP):c.1540-34C>T	noncoding	Benign
10	71818704	C	T	C71818704T	PSAP	NM_002778.4(PSAP):c.1452G>A:p.Ser484=	coding	Benign
10	71818746	G	A	G71818746A	PSAP	NM_002778.4(PSAP):c.1432-22C>T	noncoding	Benign
10	71819082	G	A	G71819082A	PSAP	NM_002778.4(PSAP):c.1380C>T:p.Pro460=	coding	Benign/Likely_benign
10	71819093	C	A	C71819093A	PSAP	NM_002778.4(PSAP):c.1369G>T:p.Glu457Ter	coding	Pathogenic
10	71819125	T	C	T71819125C	PSAP;CDH23	NM_002778.4(PSAP):c.1351-14A>G	noncoding	Benign/Likely_benign
10	71819460	C	T	C71819460T	PSAP;CDH23	NM_002778.4(PSAP):c.1350+5G>A	noncoding	Benign/Likely_benign
10	71819467	G	A	G71819467A	PSAP	NM_002778.4(PSAP):c.1348C>T:p.Gln450Ter	coding	Pathogenic
10	71819527	G	A	G71819527A	PSAP	NM_002778.4(PSAP):c.1288C>T:p.Gln430Ter	coding	Pathogenic
10	71819534	G	A	G71819534A	PSAP	NM_002778.4(PSAP):c.1281C>T:p.Ser427=	coding	Benign
10	71819648	C	T	C71819648T	PSAP	NM_002778.4(PSAP):c.1193-26G>A	noncoding	Benign
10	71819761	C	A	C71819761A	PSAP	NM_002778.4(PSAP):c.1145G>T:p.Cys382Phe	coding	Pathogenic
10	71819762	A	C	A71819762C	PSAP	NM_002778.4(PSAP):c.1144T>G:p.Cys382Gly	coding	Pathogenic
10	71819860	A	G	A71819860G	PSAP	NM_002778.4(PSAP):c.1046T>C:p.Leu349Pro	coding	Pathogenic
10	71819902	T	C	T71819902C	PSAP	NM_002778.4(PSAP):c.1006-2A>G	noncoding	Pathogenic
10	71819921	G	A	G71819921A	PSAP	NM_002778.4(PSAP):c.1006-21C>T	noncoding	Benign
10	71820198	G	C	G71820198C	PSAP	NM_002778.4(PSAP):c.1005+42C>G	noncoding	Benign
10	71820222	G	A	G71820222A	PSAP	NM_002778.4(PSAP):c.1005+18C>T	noncoding	Benign
10	71821844	C	A	C71821844A	PSAP	NM_002778.4(PSAP):c.909+32G>T	noncoding	Benign
10	71823763	G	C	G71823763C	PSAP	NM_002778.4(PSAP):c.778-1756C>G	noncoding	Benign
10	71823896	G	A	G71823896A	PSAP	NM_002778.4(PSAP):c.778-1889C>T	noncoding	Pathogenic
10	71825892	C	G	C71825892G	PSAP	NM_002778.4(PSAP):c.722G>C:p.Cys241Ser	coding	Pathogenic
10	71828084	G	A	G71828084A	PSAP	NM_002778.4(PSAP):c.650C>T:p.Thr217Ile	coding	Pathogenic/Likely_pathogenic
10	71828091	T	G	T71828091G	PSAP	NM_002778.4(PSAP):c.643A>C:p.Asn215His	coding	Pathogenic
10	71828127	G	A	G71828127A	PSAP	NM_002778.4(PSAP):c.607C>T:p.Gln203Ter	coding	Pathogenic
10	71828158	C	A	C71828158A	PSAP	NM_002778.4(PSAP):c.577-1G>T	coding	Pathogenic
10	71828159	T	C	T71828159C	PSAP	NM_002778.4(PSAP):c.577-2A>G	noncoding	Pathogenic
10	71828883	C	A	C71828883A	PSAP	NM_002778.4(PSAP):c.570G>T:p.Gln190His	coding	Benign
10	71828983	T	C	T71828983C	PSAP	NM_002778.4(PSAP):c.470A>G:p.Asn157Ser	coding	Pathogenic
10	71831165	G	A	G71831165A	PSAP	NM_002778.4(PSAP):c.336C>T:p.Ser112=	coding	Benign/Likely_benign
10	71831182	T	G	T71831182G	PSAP	NM_002778.4(PSAP):c.319A>C:p.Lys107Gln	coding	Benign
10	71831392	T	C	T71831392C	PSAP	NM_002778.4(PSAP):c.250-141A>G	noncoding	Benign
10	71831891	G	A	G71831891A	PSAP	NM_002778.4(PSAP):c.204C>T:p.Asp68=	coding	Benign/Likely_benign
10	71834156	A	G	A71834156G	PSAP	NM_002778.4(PSAP):c.174+216T>C	noncoding	Benign
10	71834426	G	A	G71834426A	PSAP	NM_002778.4(PSAP):c.120C>T:p.Ser40=	coding	Benign
10	71834458	C	A	C71834458A	PSAP	NM_002778.4(PSAP):c.88G>T:p.Ala30Ser	coding	Benign/Likely_benign
10	71834468	G	A	G71834468A	PSAP	NM_002778.4(PSAP):c.78C>T:p.Thr26=	coding	Benign
10	71834742	G	A	G71834742A	PSAP	NM_002778.4(PSAP):c.41-237C>T	noncoding	Benign
10	71851206	G	A	G71851206A	PSAP	NM_002778.4(PSAP):c.16C>T:p.Leu6Phe	coding	Benign
10	71851221	T	A	T71851221A	PSAP	NM_002778.4(PSAP):c.1A>T:p.Met1Leu	coding	Pathogenic
10	71851221	T	C	T71851221C	PSAP	NM_002778.4(PSAP):c.1A>G:p.Met1Val	coding	Pathogenic
10	71851225	G	A	G71851225A	PSAP	NM_002778.4(PSAP):c.-4C>T	noncoding	Benign
10	71851231	T	C	T71851231C	PSAP	NM_002778.4(PSAP):c.-10A>G	noncoding	Benign
10	71964508	C	G	C71964508G	CHST3	NM_004273.5(CHST3):c.-294C>G	noncoding	Benign
10	72005950	C	G	C72005950G	CHST3	NM_004273.5(CHST3):c.108C>G:p.Val36=	coding	Benign
10	72007453	C	T	C72007453T	CHST3	NM_004273.5(CHST3):c.422C>T:p.Thr141Met	coding	Pathogenic
10	72007512	C	T	C72007512T	CHST3	NM_004273.5(CHST3):c.481C>T:p.Leu161Phe	coding	Pathogenic
10	72007522	C	T	C72007522T	CHST3	NM_004273.5(CHST3):c.491C>T:p.Pro164Leu	coding	Pathogenic
10	72007534	T	G	T72007534G	CHST3	NM_004273.5(CHST3):c.503T>G:p.Ile168Ser	coding	Pathogenic
10	72007634	C	A	C72007634A	CHST3	NM_004273.5(CHST3):c.603C>A:p.Tyr201Ter	coding	Pathogenic
10	72007695	C	T	C72007695T	CHST3	NM_004273.5(CHST3):c.664C>T:p.Arg222Trp	coding	Pathogenic
10	72007807	T	C	T72007807C	CHST3	NM_004273.5(CHST3):c.776T>C:p.Leu259Pro	coding	Pathogenic
10	72007888	T	C	T72007888C	CHST3	NM_004273.5(CHST3):c.857T>C:p.Leu286Pro	coding	Pathogenic
10	72007935	G	C	G72007935C	CHST3	NM_004273.5(CHST3):c.904G>C:p.Asp302His	coding	Pathogenic
10	72007951	T	C	T72007951C	CHST3	NM_004273.5(CHST3):c.920T>C:p.Leu307Pro	coding	Pathogenic
10	72008019	C	T	C72008019T	CHST3	NM_004273.5(CHST3):c.988C>T:p.Gln330Ter	coding	Pathogenic
10	72008094	G	A	G72008094A	CHST3	NM_004273.5(CHST3):c.1063G>A:p.Gly355Arg	coding	Pathogenic
10	72008101	G	A	G72008101A	CHST3	NM_004273.5(CHST3):c.1070G>A:p.Arg357Gln	coding	Benign
10	72008145	G	A	G72008145A	CHST3	NM_004273.5(CHST3):c.1114G>A:p.Glu372Lys	coding	Pathogenic
10	72008191	G	A	G72008191A	CHST3	NM_004273.5(CHST3):c.1160G>A:p.Arg387His	coding	Benign
10	72008204	C	A	C72008204A	CHST3	NM_004273.5(CHST3):c.1173C>A:p.Ile391=	coding	Benign
10	72008343	C	T	C72008343T	CHST3	NM_004273.5(CHST3):c.1312C>T:p.Gln438Ter	coding	Pathogenic
10	72008478	C	T	C72008478T	CHST3	NM_004273.5(CHST3):c.*7C>T	noncoding	Benign/Likely_benign
10	72009234	C	A	C72009234A	CHST3	NM_004273.5(CHST3):c.*763C>A	noncoding	Benign
10	72009749	C	T	C72009749T	CHST3	NM_004273.5(CHST3):c.*1278C>T	noncoding	Benign
10	72009785	G	A	G72009785A	CHST3	NM_004273.5(CHST3):c.*1314G>A	noncoding	Benign
10	72009832	C	T	C72009832T	CHST3	NM_004273.5(CHST3):c.*1361C>T	noncoding	Benign
10	72010315	C	T	C72010315T	CHST3	NM_004273.5(CHST3):c.*1844C>T	noncoding	Benign
10	72010359	T	C	T72010359C	CHST3	NM_004273.5(CHST3):c.*1888T>C	noncoding	Benign
10	72010641	T	G	T72010641G	CHST3	NM_004273.5(CHST3):c.*2170T>G	noncoding	Benign
10	72010820	A	G	A72010820G	CHST3	NM_004273.5(CHST3):c.*2349A>G	noncoding	Benign
10	72010893	T	C	T72010893C	CHST3	NM_004273.5(CHST3):c.*2422T>C	noncoding	Benign
10	72010935	C	G	C72010935G	CHST3	NM_004273.5(CHST3):c.*2464C>G	noncoding	Benign
10	72011524	C	T	C72011524T	CHST3	NM_004273.5(CHST3):c.*3053C>T	noncoding	Benign
10	72011772	G	A	G72011772A	CHST3	NM_004273.5(CHST3):c.*3301G>A	noncoding	Benign
10	72011948	G	A	G72011948A	CHST3	NM_004273.5(CHST3):c.*3477G>A	noncoding	Benign
10	72012256	G	A	G72012256A	CHST3	NM_004273.5(CHST3):c.*3785G>A	noncoding	Benign
10	72012403	G	T	G72012403T	CHST3	NM_004273.5(CHST3):c.*3932G>T	noncoding	Benign
10	72012458	G	A	G72012458A	CHST3	NM_004273.5(CHST3):c.*3987G>A	noncoding	Benign
10	72012578	T	C	T72012578C	CHST3	NM_004273.5(CHST3):c.*4107T>C	noncoding	Benign
10	72012771	G	A	G72012771A	CHST3	NM_004273.5(CHST3):c.*4300G>A	noncoding	Benign
10	72012892	G	C	G72012892C	CHST3	NM_004273.5(CHST3):c.*4421G>C	noncoding	Benign
10	72012903	T	A	T72012903A	CHST3	NM_004273.5(CHST3):c.*4432T>A	noncoding	Benign
10	72013004	C	T	C72013004T	CHST3	NM_004273.5(CHST3):c.*4533C>T	noncoding	Benign
10	72013256	G	A	G72013256A	CHST3	NM_004273.5(CHST3):c.*4785G>A	noncoding	Benign
10	72062886	C	T	C72062886T	SPOCK2	NM_001244950.2(SPOCK2):c.1149G>A:p.Ser383=	coding	Benign
10	72063097	C	T	C72063097T	SPOCK2	NM_001244950.2(SPOCK2):c.1057G>A:p.Gly353Ser	coding	Benign
10	72067017	G	A	G72067017A	SPOCK2	NM_001244950.2(SPOCK2):c.813C>T:p.Ala271=	coding	Benign
10	72088294	G	A	G72088294A	SPOCK2	NM_001244950.2(SPOCK2):c.35C>T:p.Pro12Leu	coding	Benign
10	72097364	G	A	G72097364A	ASCC1	NM_001198800.3(ASCC1):c.1044C>T:p.Tyr348=	coding	Benign
10	72128096	G	A	G72128096A	ASCC1	NM_001198800.3(ASCC1):c.943C>T:p.Arg315Ter	coding	Pathogenic
10	72128128	T	C	T72128128C	ASCC1	NM_001198800.3(ASCC1):c.911A>G:p.Tyr304Cys	coding	Benign
10	72128136	T	A	T72128136A	ASCC1	NM_001198800.3(ASCC1):c.903A>T:p.Glu301Asp	coding	Benign
10	72133059	T	C	T72133059C	ASCC1	NM_001198800.3(ASCC1):c.869A>G:p.Asn290Ser	coding	Benign/Likely_benign
10	72133185	G	C	G72133185C	ASCC1	NM_001198800.3(ASCC1):c.747-4C>G	noncoding	Benign
10	72161537	C	T	C72161537T	ASCC1	NM_001198800.3(ASCC1):c.626+1G>A	noncoding	Pathogenic
10	72196918	G	A	G72196918A	ASCC1	NM_001198800.3(ASCC1):c.382C>T:p.Arg128Ter	coding	Pathogenic
10	72196972	G	A	G72196972A	ASCC1	NM_001198800.3(ASCC1):c.328C>T:p.Arg110Ter	coding	Pathogenic
10	72196991	T	C	T72196991C	ASCC1	NM_001198800.3(ASCC1):c.311-2A>G	noncoding	Pathogenic
10	72204480	C	T	C72204480T	ASCC1	NM_001198800.3(ASCC1):c.213-956G>A	coding	Benign
10	72368395	C	T	C72368395T	MICU1	NM_001195518.2(MICU1):c.1271-40G>A	noncoding	Benign
10	72368473	C	T	C72368473T	MICU1	NM_001195518.2(MICU1):c.1271-118G>A	noncoding	Benign
10	72368632	T	C	T72368632C	MICU1	NM_001195518.2(MICU1):c.1271-277A>G	noncoding	Benign
10	72375757	T	A	T72375757A	MICU1	NM_001195518.2(MICU1):c.1270+26A>T	noncoding	Benign
10	72375938	G	T	G72375938T	MICU1	NM_001195518.2(MICU1):c.1181-66C>A	noncoding	Benign
10	72376099	T	C	T72376099C	MICU1	NM_001195518.2(MICU1):c.1181-227A>G	noncoding	Benign
10	72407721	A	C	A72407721C	MICU1	NM_001195518.2(MICU1):c.1180+208T>G	noncoding	Benign
10	72408038	C	G	C72408038G	MICU1	NM_001195518.2(MICU1):c.1072-1G>C	coding	Pathogenic
10	72408038	C	T	C72408038T	MICU1	NM_001195518.2(MICU1):c.1072-1G>A	coding	Pathogenic
10	72408053	C	T	C72408053T	MICU1	NM_001195518.2(MICU1):c.1072-16G>A	noncoding	Benign
10	72423263	G	A	G72423263A	MICU1	NM_001195518.2(MICU1):c.1042C>T:p.Gln348Ter	coding	Pathogenic
10	72477173	C	T	C72477173T	MICU1	NM_001195518.2(MICU1):c.735+1G>A	noncoding	Pathogenic
10	72508260	G	A	G72508260A	MICU1	NM_001195518.2(MICU1):c.547C>T:p.Gln183Ter	coding	Pathogenic
10	72508273	T	C	T72508273C	MICU1	NM_001195518.2(MICU1):c.538-4A>G	coding	Benign
10	72523923	A	T	A72523923T	MICU1	NM_001195518.2(MICU1):c.537+9823T>A	coding	Benign
10	72550893	G	A	G72550893A	MICU1	NM_001195518.2(MICU1):c.493+286C>T	noncoding	Benign
10	72551317	G	A	G72551317A	MICU1	NM_001195518.2(MICU1):c.355C>T:p.Arg119Ter	coding	Pathogenic
10	72551333	T	C	T72551333C	MICU1	NM_001195518.2(MICU1):c.339A>G:p.Glu113=	coding	Benign
10	72551477	A	C	A72551477C	MICU1	NM_001195518.2(MICU1):c.331-136T>G	noncoding	Benign
10	72562918	G	A	G72562918A	MICU1	NM_001195518.2(MICU1):c.307C>T:p.Arg103Cys	coding	Benign
10	72885820	T	A	T72885820A	MCU	NM_138357.2(MCU):c.1054T>A:p.Ter352Arg	coding	Benign
10	73014217	G	A	G73014217A	P4HA1	NM_000917.3(P4HA1):c.1368+7C>T	noncoding	Benign
10	73139410	G	A	G73139410A	ECD	NM_007265.3(ECD):c.1320C>T:p.Ser440=	coding	Benign
10	73193490	C	T	C73193490T	FAM149B1	NM_173348.2(FAM149B1):c.439C>T:p.Gln147Ter	coding	Pathogenic
10	73250935	G	A	G73250935A	MRPS16	NM_016065.4(MRPS16):c.331C>T:p.Arg111Ter	coding	Pathogenic
10	73251238	T	C	T73251238C	MRPS16	NM_016065.4(MRPS16):c.275-247A>G	noncoding	Benign
10	73251288	A	G	A73251288G	MRPS16	NM_016065.4(MRPS16):c.275-297T>C	noncoding	Benign
10	73251925	G	T	G73251925T	MRPS16	NM_016065.4(MRPS16):c.112C>A:p.His38Asn	coding	Benign/Likely_benign
10	73252003	A	G	A73252003G	MRPS16	NM_016065.4(MRPS16):c.34T>C:p.Tyr12His	coding	Benign
10	73252490	C	G	C73252490G	MRPS16	NM_016065.4(MRPS16):c.-8G>C	noncoding	Benign
10	73252577	C	T	C73252577T	MRPS16	NM_016065.4(MRPS16):c.-95G>A	noncoding	Benign
10	73297174	C	A	C73297174A	CFAP70	NM_001350933.1(CFAP70):c.1513-1G>T	coding	Pathogenic
10	73760299	C	G	C73760299G	SEC24C	NM_198597.3(SEC24C):c.763C>G:p.Pro255Ala	coding	Benign
10	73760307	C	G	C73760307G	SEC24C	NM_198597.3(SEC24C):c.771C>G:p.Gly257=	coding	Benign
10	73760396	T	G	T73760396G	SEC24C	NM_198597.3(SEC24C):c.850+10T>G	noncoding	Benign
10	73766440	C	T	C73766440T	SEC24C	NM_198597.3(SEC24C):c.1698C>T:p.Ala566=	coding	Benign
10	73766753	T	C	T73766753C	SEC24C	NM_198597.3(SEC24C):c.1800-7T>C	noncoding	Benign
10	73770951	G	A	G73770951A	SEC24C	NM_198597.3(SEC24C):c.3145-4G>A	noncoding	Benign
10	73772893	C	G	C73772893G	FUT11	NM_173540.3(FUT11):c.560C>G:p.Thr187Ser	coding	Benign
10	73773680	A	G	A73773680G	FUT11	NM_173540.3(FUT11):c.1199A>G:p.Asp400Gly	coding	Benign
10	73911531	C	T	C73911531T	PLAU	NM_002658.5(PLAU):c.-25C>T	noncoding	Benign
10	73911536	A	G	A73911536G	PLAU	NM_002658.5(PLAU):c.-20A>G	noncoding	Benign
10	73911538	C	A	C73911538A	PLAU	NM_002658.5(PLAU):c.-18C>A	noncoding	Benign
10	73911572	C	A	C73911572A	PLAU	NM_002658.5(PLAU):c.17C>A:p.Ala6Glu	coding	Benign
10	73911598	G	T	G73911598T	PLAU	NM_002658.5(PLAU):c.43G>T:p.Val15Leu	coding	Benign
10	73912240	A	G	A73912240G	PLAU	NM_002658.5(PLAU):c.111A>G:p.Gly37=	coding	Benign
10	73912291	A	G	A73912291G	PLAU	NM_002658.5(PLAU):c.162A>G:p.Pro54=	coding	Benign/Likely_benign
10	73912292	A	G	A73912292G	PLAU	NM_002658.5(PLAU):c.163A>G:p.Lys55Glu	coding	Benign
10	73912301	G	A	G73912301A	PLAU	NM_002658.5(PLAU):c.172G>A:p.Gly58Arg	coding	Benign/Likely_benign
10	73912966	G	A	G73912966A	PLAU	NM_002658.5(PLAU):c.236G>A:p.Arg79Gln	coding	Benign
10	73913038	C	T	C73913038T	PLAU	NM_002658.5(PLAU):c.308C>T:p.Thr103Met	coding	Benign
10	73913366	C	T	C73913366T	PLAU	NM_002658.6(PLAU):c.445C>T:p.His149Tyr	coding	Benign
10	73913637	A	G	A73913637G	PLAU	NM_002658.6(PLAU):c.559A>G:p.Ile187Val	coding	Benign
10	73913659	C	T	C73913659T	PLAU	NM_002658.5(PLAU):c.581C>T:p.Ala194Val	coding	Benign
10	73913680	G	T	G73913680T	PLAU	NM_002658.5(PLAU):c.602G>T:p.Arg201Leu	coding	Benign
10	73913973	C	T	C73913973T	PLAU	NM_002658.5(PLAU):c.681-7C>T	noncoding	Benign
10	73913990	A	C	A73913990C	PLAU	NM_002658.5(PLAU):c.691A>C:p.Lys231Gln	coding	Benign
10	73914005	A	G	A73914005G	PLAU	NM_002658.5(PLAU):c.706A>G:p.Ile236Val	coding	Benign
10	73914121	C	T	C73914121T	PLAU	NM_002658.5(PLAU):c.822C>T:p.Asn274=	coding	Benign
10	73914763	T	C	T73914763C	PLAU	NM_002658.6(PLAU):c.830-13T>C	noncoding	Benign
10	73914824	G	A	G73914824A	PLAU	NM_002658.5(PLAU):c.878G>A:p.Arg293Gln	coding	Benign
10	73915252	C	T	C73915252T	PLAU	NM_002658.6(PLAU):c.972C>T:p.Thr324=	coding	Benign
10	73915328	T	C	T73915328C	PLAU	NM_002658.5(PLAU):c.1048T>C:p.Tyr350His	coding	Benign/Likely_benign
10	73915333	C	T	C73915333T	PLAU	NM_002658.5(PLAU):c.1053C>T:p.Tyr351=	coding	Benign
10	73915372	C	T	C73915372T	PLAU	NM_002658.5(PLAU):c.1092C>T:p.Asp364=	coding	Benign
10	73916462	G	T	G73916462T	PLAU	NM_002658.6(PLAU):c.1193G>T:p.Arg398Leu	coding	Benign
10	73916491	G	A	G73916491A	PLAU	NM_002658.5(PLAU):c.1222G>A:p.Val408Ile	coding	Benign
10	73916617	T	A	T73916617A	PLAU	NM_002658.5(PLAU):c.*52T>A	noncoding	Benign
10	73916625	A	C	A73916625C	PLAU	NM_002658.5(PLAU):c.*60A>C	noncoding	Benign
10	73916706	C	T	C73916706T	PLAU	NM_002658.5(PLAU):c.*141C>T	noncoding	Benign
10	73916831	T	C	T73916831C	PLAU	NM_002658.5(PLAU):c.*266T>C	noncoding	Benign
10	73916900	G	A	G73916900A	PLAU	NM_002658.5(PLAU):c.*335G>A	noncoding	Benign
10	73916920	C	T	C73916920T	PLAU	NM_002658.5(PLAU):c.*355C>T	noncoding	Benign
10	73916963	C	T	C73916963T	PLAU	NM_002658.5(PLAU):c.*398C>T	noncoding	Benign
10	73917009	T	A	T73917009A	PLAU	NM_002658.5(PLAU):c.*444T>A	noncoding	Benign
10	73917085	G	T	G73917085T	PLAU	NM_002658.5(PLAU):c.*520G>T	noncoding	Benign
10	73997822	A	G	A73997822G	VCL	NM_014000.2(VCL):c.-386A>G	noncoding	Benign
10	73997944	A	G	A73997944G	VCL	NM_014000.2(VCL):c.-264A>G	noncoding	Benign
10	73998327	C	T	C73998327T	VCL	NM_014000.3(VCL):c.120C>T:p.Leu40=	coding	Benign/Likely_benign
10	74070769	G	A	G74070769A	VCL	NM_014000.3(VCL):c.339G>A:p.Arg113=	coding	Benign
10	74070796	G	A	G74070796A	VCL	NM_014000.3(VCL):c.366G>A:p.Leu122=	coding	Benign/Likely_benign
10	74072449	T	C	T74072449C	VCL	NM_014000.2(VCL):c.500-281T>C	noncoding	Benign
10	74072494	A	G	A74072494G	VCL	NM_014000.2(VCL):c.500-236A>G	noncoding	Benign
10	74074660	T	C	T74074660C	VCL	NM_014000.2(VCL):c.623-83T>C	noncoding	Benign
10	74074780	C	T	C74074780T	VCL	NM_014000.3(VCL):c.660C>T:p.Asn220=	coding	Benign/Likely_benign
10	74074888	T	C	T74074888C	VCL	NM_014000.3(VCL):c.768T>C:p.Asp256=	coding	Benign
10	74082394	G	A	G74082394A	VCL	NM_014000.2(VCL):c.784-60G>A	noncoding	Benign
10	74083342	T	A	T74083342A	VCL	NM_014000.2(VCL):c.875-24T>A	noncoding	Benign
10	74083436	C	A	C74083436A	VCL	NM_014000.3(VCL):c.945C>A:p.Gly315=	coding	Benign/Likely_benign
10	74089337	C	T	C74089337T	VCL	NM_014000.3(VCL):c.1164C>T:p.Ile388=	coding	Benign
10	74090008	C	T	C74090008T	VCL	NM_014000.3(VCL):c.1177-15C>T	noncoding	Benign
10	74090194	A	C	A74090194C	VCL	NM_014000.3(VCL):c.1348A>C:p.Arg450=	coding	Benign/Likely_benign
10	74094038	C	T	C74094038T	VCL	NM_014000.2(VCL):c.1353-233C>T	noncoding	Benign
10	74094252	G	A	G74094252A	VCL	NM_014000.2(VCL):c.1353-19G>A	noncoding	Benign
10	74094325	C	T	C74094325T	VCL	NM_014000.3(VCL):c.1407C>T:p.Ala469=	coding	Benign
10	74094424	G	A	G74094424A	VCL	NM_014000.3(VCL):c.1506G>A:p.Arg502=	coding	Benign
10	74094460	C	T	C74094460T	VCL	NM_014000.3(VCL):c.1542C>T:p.Val514=	coding	Benign/Likely_benign
10	74095669	C	A	C74095669A	VCL	NM_014000.3(VCL):c.1557C>A:p.Ile519=	coding	Benign
10	74095684	C	T	C74095684T	VCL	NM_014000.3(VCL):c.1572C>T:p.Ala524=	coding	Benign/Likely_benign
10	74095738	C	T	C74095738T	VCL	NM_014000.3(VCL):c.1626C>T:p.Leu542=	coding	Benign/Likely_benign
10	74095783	C	T	C74095783T	VCL	NM_014000.3(VCL):c.1671C>T:p.Asp557=	coding	Benign/Likely_benign
10	74096084	C	T	C74096084T	VCL	NM_014000.2(VCL):c.1743+229C>T	noncoding	Benign
10	74097248	A	C	A74097248C	VCL	NM_014000.3(VCL):c.1788A>C:p.Ser596=	coding	Benign/Likely_benign
10	74097302	G	A	G74097302A	VCL	NM_014000.3(VCL):c.1842G>A:p.Thr614=	coding	Benign/Likely_benign
10	74097529	G	C	G74097529C	VCL	NM_014000.2(VCL):c.1872+197G>C	noncoding	Benign
10	74097531	A	C	A74097531C	VCL	NM_014000.2(VCL):c.1872+199A>C	noncoding	Benign
10	74103800	A	G	A74103800G	VCL	NM_014000.2(VCL):c.2023-20A>G	noncoding	Benign
10	74103992	C	T	C74103992T	VCL	NM_014000.2(VCL):c.2131+64C>T	noncoding	Benign
10	74105307	G	A	G74105307A	VCL	NM_014000.3(VCL):c.2388G>A:p.Pro796=	coding	Benign
10	74105372	T	C	T74105372C	VCL	NM_014000.2(VCL):c.2434+19T>C	noncoding	Benign
10	74105401	C	T	C74105401T	VCL	NM_014000.2(VCL):c.2434+48C>T	noncoding	Benign
10	74105512	G	A	G74105512A	VCL	NM_014000.2(VCL):c.2434+159G>A	noncoding	Benign
10	74107171	C	A	C74107171A	VCL	NM_014000.2(VCL):c.2435-59C>A	noncoding	Benign
10	74109307	T	C	T74109307C	VCL	NM_014000.2(VCL):c.2745+151T>C	noncoding	Benign
10	74111962	G	A	G74111962A	VCL	NM_014000.3(VCL):c.2799G>A:p.Ala933=	coding	Benign/Likely_benign
10	74111964	C	T	C74111964T	VCL	NM_014000.3(VCL):c.2801C>T:p.Ala934Val	coding	Benign/Likely_benign
10	74111977	C	G	C74111977G	VCL	NM_014000.3(VCL):c.2814C>G:p.Gly938=	coding	Benign
10	74114134	C	T	C74114134T	VCL	NM_014000.2(VCL):c.2950-50C>T	noncoding	Benign
10	74118097	T	C	T74118097C	VCL	NM_014000.3(VCL):c.3333T>C:p.Ala1111=	coding	Benign/Likely_benign
10	74119753	T	A	T74119753A	VCL	NM_014000.2(VCL):c.*1584T>A	noncoding	Benign
10	74119992	G	A	G74119992A	VCL	NM_014000.2(VCL):c.*1823G>A	noncoding	Benign
10	74120022	A	C	A74120022C	VCL	NM_014000.2(VCL):c.*1853A>C	noncoding	Benign
10	74176853	C	T	C74176853T	ADK	NM_006721.4(ADK):c.66-23911C>T	coding	Benign
10	74200787	G	A	G74200787A	ADK	NM_006721.4(ADK):c.89G>A:p.Gly30Glu	coding	Pathogenic
10	74525404	A	C	A74525404C	ADK	NM_006721.4(ADK):c.704A>C:p.Asp235Ala	coding	Pathogenic
10	74525405	T	C	T74525405C	ADK	NM_006721.4(ADK):c.705T>C:p.Asp235=	coding	Benign
10	74525437	T	G	T74525437G	ADK	NM_006721.4(ADK):c.726+11T>G	noncoding	Benign
10	74589271	T	C	T74589271C	ADK	NM_006721.4(ADK):c.727-11T>C	noncoding	Benign
10	74670258	C	A	C74670258A	ADK	NM_006721.4(ADK):c.953C>A:p.Ala318Glu	coding	Pathogenic
10	74708343	T	C	T74708343C	ADK	NM_006721.4(ADK):c.987T>C:p.Ser329=	coding	Benign
10	74708444	G	A	G74708444A	ADK	NM_006721.4(ADK):c.1088G>A:p.Ter363=	coding	Benign/Likely_benign
10	74709093	C	T	C74709093T	ADK	NM_006721.4(ADK):c.*648C>T	noncoding	Benign
10	74843232	C	T	C74843232T	KAT6B	NM_012330.4(KAT6B):c.375C>T:p.Ser125=	coding	Benign
10	74843314	C	T	C74843314T	KAT6B	NM_012330.4(KAT6B):c.457C>T:p.Arg153Ter	coding	Pathogenic
10	74843724	C	T	C74843724T	KAT6B	NM_012330.4(KAT6B):c.621+246C>T	noncoding	Benign
10	74959921	C	A	C74959921A	KAT6B	NM_012330.4(KAT6B):c.622-49C>A	noncoding	Benign
10	74960282	T	C	T74960282C	KAT6B	NM_012330.4(KAT6B):c.730+204T>C	noncoding	Benign
10	74960323	C	T	C74960323T	KAT6B	NM_012330.4(KAT6B):c.730+245C>T	noncoding	Benign
10	74969874	C	T	C74969874T	KAT6B	NM_012330.4(KAT6B):c.846+99C>T	noncoding	Benign
10	74970018	A	G	A74970018G	KAT6B	NM_012330.4(KAT6B):c.847-2A>G	noncoding	Pathogenic
10	74972275	C	T	C74972275T	KAT6B	NM_012330.4(KAT6B):c.929-232C>T	noncoding	Benign
10	74972495	A	G	A74972495G	KAT6B	NM_012330.4(KAT6B):c.929-12A>G	noncoding	Benign
10	74976000	G	A	G74976000A	KAT6B	NM_012330.4(KAT6B):c.1663G>A:p.Gly555Arg	coding	Benign
10	74976201	C	T	C74976201T	KAT6B	NM_012330.4(KAT6B):c.1864C>T:p.Arg622Ter	coding	Pathogenic
10	74981854	C	T	C74981854T	KAT6B	NM_012330.4(KAT6B):c.2299C>T:p.His767Tyr	coding	Pathogenic
10	74989081	G	A	G74989081A	KAT6B	NM_012330.4(KAT6B):c.2598G>A:p.Arg866=	coding	Pathogenic
10	75021190	A	G	A75021190G	KAT6B	NM_012330.4(KAT6B):c.2926A>G:p.Arg976Gly	coding	Benign
10	75021286	G	T	G75021286T	KAT6B	NM_012330.4(KAT6B):c.3021+1G>T	coding	Pathogenic
10	75021880	G	A	G75021880A	KAT6B	NM_012330.4(KAT6B):c.3022-1G>A	noncoding	Pathogenic
10	75021977	C	T	C75021977T	KAT6B	NM_012330.4(KAT6B):c.3118C>T:p.Gln1040Ter	coding	Pathogenic
10	75022006	G	A	G75022006A	KAT6B	NM_012330.4(KAT6B):c.3147G>A:p.Pro1049=	coding	Pathogenic
10	75022031	C	T	C75022031T	KAT6B	NM_012330.4(KAT6B):c.3172C>T:p.Arg1058Ter	coding	Pathogenic
10	75022145	G	T	G75022145T	KAT6B	NM_012330.4(KAT6B):c.3286G>T:p.Glu1096Ter	coding	Pathogenic
10	75022208	C	T	C75022208T	KAT6B	NM_012330.4(KAT6B):c.3349C>T:p.Gln1117Ter	coding	Pathogenic
10	75025234	G	T	G75025234T	KAT6B	NM_012330.4(KAT6B):c.3649G>T:p.Ala1217Ser	coding	Benign
10	75025250	G	A	G75025250A	KAT6B	NM_012330.4(KAT6B):c.3664+1G>A	coding	Pathogenic
10	75028509	A	G	A75028509G	KAT6B;DUSP29	NM_012330.4(KAT6B):c.3685A>G:p.Ser1229Gly	coding	Benign
10	75028541	C	T	C75028541T	KAT6B	NM_012330.4(KAT6B):c.3717C>T:p.Pro1239=	coding	Benign
10	75028626	G	T	G75028626T	KAT6B	NM_012330.4(KAT6B):c.3802G>T:p.Gly1268Ter	coding	Pathogenic
10	75028716	G	T	G75028716T	KAT6B	NM_012330.4(KAT6B):c.3892G>T:p.Gly1298Ter	coding	Pathogenic
10	75028893	G	T	G75028893T	KAT6B	NM_012330.4(KAT6B):c.4069G>T:p.Glu1357Ter	coding	Pathogenic
10	75028911	G	T	G75028911T	KAT6B	NM_012330.4(KAT6B):c.4087G>T:p.Glu1363Ter	coding	Pathogenic
10	75029102	C	T	C75029102T	KAT6B	NM_012330.4(KAT6B):c.4278C>T:p.Ala1426=	coding	Benign
10	75029231	G	A	G75029231A	KAT6B	NM_012330.4(KAT6B):c.4407G>A:p.Ser1469=	coding	Benign
10	75029319	G	A	G75029319A	KAT6B	NM_012330.4(KAT6B):c.4495G>A:p.Val1499Ile	coding	Benign
10	75029659	G	A	G75029659A	KAT6B	NM_012330.4(KAT6B):c.4835G>A:p.Arg1612His	coding	Benign
10	75029925	C	T	C75029925T	KAT6B	NM_012330.4(KAT6B):c.5101C>T:p.Gln1701Ter	coding	Pathogenic
10	75030078	C	T	C75030078T	KAT6B	NM_012330.4(KAT6B):c.5254C>T:p.Gln1752Ter	coding	Pathogenic
10	75030114	C	T	C75030114T	KAT6B	NM_012330.4(KAT6B):c.5290C>T:p.Gln1764Ter	coding	Pathogenic
10	75030213	C	T	C75030213T	KAT6B	NM_012330.4(KAT6B):c.5389C>T:p.Arg1797Ter	coding	Pathogenic
10	75030986	C	T	C75030986T	KAT6B	NM_012330.4(KAT6B):c.6162C>T:p.His2054=	coding	Benign
10	75094704	C	T	C75094704T	DUSP13	NM_001007271.2(DUSP13):c.*877G>A	coding	Benign
10	75094705	G	C	G75094705C	DUSP13	NM_001007271.2(DUSP13):c.*876C>G	coding	Benign
10	75103934	G	A	G75103934A	DUSP13	NM_001007271.2(DUSP13):c.*172C>T	coding	Benign
10	75103972	G	A	G75103972A	DUSP13	NM_001007271.2(DUSP13):c.*134C>T	coding	Benign
10	75222255	T	C	T75222255C	VDAC2	NM_001184783.2(VDAC2):c.633T>C:p.Asn211=	coding	Benign
10	75399745	C	T	C75399745T	ZNF503	NM_032772.6(ZNF503):c.945G>A:p.Ser315=	coding	Benign
10	76036098	A	G	A76036098G	LRMDA	NM_001305581.2(LRMDA):c.222A>G:p.Leu74=	coding	Benign
10	76036104	A	G	A76036104G	LRMDA	NM_001305581.2(LRMDA):c.228A>G:p.Arg76=	coding	Benign
10	76036132	C	T	C76036132T	LRMDA	NM_001305581.2(LRMDA):c.256C>T:p.Arg86Ter	coding	Pathogenic
10	76047269	T	C	T76047269C	LRMDA	NM_001305581.2(LRMDA):c.364T>C:p.Leu122=	coding	Benign
10	76058744	G	A	G76058744A	LRMDA	NM_001305581.2(LRMDA):c.477G>A:p.Ala159=	coding	Benign
10	76058747	G	T	G76058747T	LRMDA	NM_001305581.2(LRMDA):c.480G>T:p.Leu160Phe	coding	Benign
10	76324426	C	T	C76324426T	LRMDA	NM_001305581.2(LRMDA):c.542C>T:p.Ser181Phe	coding	Benign
10	76557218	G	A	G76557218A	LRMDA	NM_001305581.2(LRMDA):c.611G>A:p.Gly204Glu	coding	Benign
10	76557271	C	T	C76557271T	LRMDA	NM_001305581.2(LRMDA):c.664C>T:p.Arg222Ter	coding	Pathogenic
10	76885309	G	A	G76885309A	KCNMA1	NM_001161352.2(KCNMA1):c.*1957C>T	coding	Benign
10	76885695	G	A	G76885695A	KCNMA1	NM_001161352.2(KCNMA1):c.*1571C>T	coding	Benign
10	76886778	G	T	G76886778T	KCNMA1	NM_001161352.2(KCNMA1):c.*488C>A	coding	Benign
10	76887525	G	A	G76887525A	KCNMA1	NM_001161352.2(KCNMA1):c.3462-10C>T	noncoding	Benign
10	76891600	C	T	C76891600T	KCNMA1	NM_001161352.2(KCNMA1):c.3267G>A:p.Pro1089=	coding	Benign/Likely_benign
10	76891627	G	A	G76891627A	KCNMA1	NM_001161352.2(KCNMA1):c.3240C>T:p.Asn1080=	coding	Benign/Likely_benign
10	76891672	G	A	G76891672A	KCNMA1	NM_001161352.2(KCNMA1):c.3195C>T:p.Thr1065=	coding	Benign/Likely_benign
10	76891709	T	C	T76891709C	KCNMA1	NM_001161352.2(KCNMA1):c.3158A>G:p.Asn1053Ser	coding	Pathogenic
10	76910062	G	A	G76910062A	KCNMA1	NM_001161352.2(KCNMA1):c.3051C>T:p.Asp1017=	coding	Benign/Likely_benign
10	76915015	T	C	T76915015C	KCNMA1	NM_001161352.2(KCNMA1):c.2937A>G:p.Pro979=	coding	Benign
10	76944851	C	T	C76944851T	KCNMA1	NM_001161352.2(KCNMA1):c.2824G>A:p.Glu942Lys	coding	Pathogenic
10	76944973	A	G	A76944973G	KCNMA1	NM_001161352.2(KCNMA1):c.2710-8T>C	noncoding	Benign
10	76949286	G	A	G76949286A	KCNMA1	NM_001161352.2(KCNMA1):c.2565C>T:p.Ile855=	coding	Benign
10	76949307	G	A	G76949307A	KCNMA1	NM_001161352.2(KCNMA1):c.2544C>T:p.Gly848=	coding	Benign
10	76949325	G	A	G76949325A	KCNMA1	NM_001161352.2(KCNMA1):c.2526C>T:p.Val842=	coding	Benign/Likely_benign
10	76949363	G	A	G76949363A	KCNMA1	NM_001161352.2(KCNMA1):c.2488C>T:p.Arg830Ter	coding	Pathogenic
10	76953794	C	T	C76953794T	KCNMA1	NM_001161352.2(KCNMA1):c.2484+7G>A	noncoding	Benign
10	76953894	A	G	A76953894G	KCNMA1	NM_001161352.2(KCNMA1):c.2391T>C:p.Asp797=	coding	Benign
10	77019006	C	T	C77019006T	KCNMA1	NM_001161352.2(KCNMA1):c.2015+7G>A	noncoding	Benign/Likely_benign
10	77079496	C	A	C77079496A	KCNMA1	NM_001161352.2(KCNMA1):c.1578G>T:p.Leu526=	coding	Benign
10	77086556	G	A	G77086556A	KCNMA1	NM_001161352.2(KCNMA1):c.1372C>T:p.Arg458Ter	coding	Pathogenic
10	77090414	G	A	G77090414A	KCNMA1	NM_001161352.2(KCNMA1):c.1320C>T:p.Ile440=	coding	Benign/Likely_benign
10	77090433	T	C	T77090433C	KCNMA1	NM_001161352.2(KCNMA1):c.1301A>G:p.Asp434Gly	coding	Pathogenic
10	77112382	G	A	G77112382A	KCNMA1	NM_001161352.2(KCNMA1):c.945C>T:p.Ala315=	coding	Benign/Likely_benign
10	77184832	G	A	G77184832A	KCNMA1	NM_001161352.2(KCNMA1):c.687C>T:p.Phe229=	coding	Benign
10	77637499	A	G	A77637499G	KCNMA1	NM_001161352.2(KCNMA1):c.144T>C:p.Ser48=	coding	Benign
10	77637553	G	A	G77637553A	KCNMA1	NM_001161352.2(KCNMA1):c.90C>T:p.His30=	coding	Benign/Likely_benign
10	77637609	T	C	T77637609C	KCNMA1	NM_001161352.2(KCNMA1):c.34A>G:p.Ser12Gly	coding	Benign/Likely_benign
10	77794057	C	T	C77794057T	DLG5	NM_004747.4(DLG5):c.5607G>A:p.Gln1869=	coding	Benign
10	77796543	A	G	A77796543G	DLG5	NM_004747.4(DLG5):c.5216T>C:p.Leu1739Pro	coding	Benign
10	77796547	C	T	C77796547T	DLG5	NM_004747.4(DLG5):c.5212G>A:p.Ala1738Thr	coding	Benign
10	77805813	A	G	A77805813G	DLG5	NM_004747.4(DLG5):c.5016T>C:p.Asp1672=	coding	Benign
10	77806926	G	A	G77806926A	DLG5	NM_004747.4(DLG5):c.4799C>T:p.Ala1600Val	coding	Benign
10	77807930	G	A	G77807930A	DLG5	NM_004747.4(DLG5):c.4662C>T:p.Asp1554=	coding	Benign
10	77811216	G	A	G77811216A	DLG5	NM_004747.4(DLG5):c.4341C>T:p.Ala1447=	coding	Benign
10	77817894	G	A	G77817894A	DLG5	NM_004747.4(DLG5):c.3672-5C>T	noncoding	Benign
10	77821340	C	T	C77821340T	DLG5	NM_004747.4(DLG5):c.3144G>A:p.Pro1048=	coding	Benign
10	77821493	A	C	A77821493C	DLG5	NM_004747.4(DLG5):c.2991T>G:p.Pro997=	coding	Benign
10	77822018	G	A	G77822018A	DLG5	NM_004747.4(DLG5):c.2466C>T:p.Ala822=	coding	Benign
10	77824421	C	T	C77824421T	DLG5	NM_004747.4(DLG5):c.2345G>A:p.Arg782His	coding	Benign
10	77828948	G	A	G77828948A	DLG5	NM_004747.4(DLG5):c.2223C>T:p.Ala741=	coding	Benign
10	77830752	C	G	C77830752G	DLG5	NM_004747.4(DLG5):c.1870G>C:p.Glu624Gln	coding	Benign
10	77830852	C	T	C77830852T	DLG5	NM_004747.4(DLG5):c.1770G>A:p.Leu590=	coding	Benign
10	77835730	C	T	C77835730T	DLG5	NM_004747.4(DLG5):c.1622+8G>A	noncoding	Benign
10	77842154	C	T	C77842154T	DLG5	NM_004747.4(DLG5):c.1164G>A:p.Ala388=	coding	Benign
10	77975513	T	C	T77975513C	POLR3A	NM_007055.4(POLR3A):c.*1965A>G	noncoding	Benign
10	77975616	C	T	C77975616T	POLR3A	NM_007055.4(POLR3A):c.*1862G>A	noncoding	Benign
10	77975625	G	A	G77975625A	POLR3A	NM_007055.4(POLR3A):c.*1853C>T	noncoding	Benign
10	77975696	C	T	C77975696T	POLR3A	NM_007055.4(POLR3A):c.*1782G>A	noncoding	Benign
10	77975715	C	T	C77975715T	POLR3A	NM_007055.4(POLR3A):c.*1763G>A	noncoding	Benign
10	77975760	C	G	C77975760G	POLR3A	NM_007055.4(POLR3A):c.*1718G>C	noncoding	Benign
10	77975783	C	T	C77975783T	POLR3A	NM_007055.4(POLR3A):c.*1695G>A	noncoding	Benign
10	77975798	G	C	G77975798C	POLR3A	NM_007055.4(POLR3A):c.*1680C>G	noncoding	Benign
10	77975889	C	T	C77975889T	POLR3A	NM_007055.4(POLR3A):c.*1589G>A	noncoding	Benign
10	77976017	T	C	T77976017C	POLR3A	NM_007055.4(POLR3A):c.*1461A>G	noncoding	Benign
10	77976030	T	C	T77976030C	POLR3A	NM_007055.4(POLR3A):c.*1448A>G	noncoding	Benign
10	77976484	G	A	G77976484A	POLR3A	NM_007055.4(POLR3A):c.*994C>T	noncoding	Benign
10	77976788	G	A	G77976788A	POLR3A	NM_007055.4(POLR3A):c.*690C>T	noncoding	Benign
10	77976805	T	C	T77976805C	POLR3A	NM_007055.4(POLR3A):c.*673A>G	noncoding	Benign
10	77977052	G	A	G77977052A	POLR3A	NM_007055.4(POLR3A):c.*426C>T	noncoding	Benign
10	77977133	T	G	T77977133G	POLR3A	NM_007055.4(POLR3A):c.*345A>C	noncoding	Benign
10	77977206	C	G	C77977206G	POLR3A	NM_007055.4(POLR3A):c.*272G>C	noncoding	Benign
10	77977580	G	A	G77977580A	POLR3A	NM_007055.4(POLR3A):c.4071C>T:p.Thr1357=	coding	Benign
10	77980159	G	A	G77980159A	POLR3A	NM_007055.4(POLR3A):c.4006C>T:p.Gln1336Ter	coding	Pathogenic
10	77980174	C	T	C77980174T	POLR3A	NM_007055.4(POLR3A):c.3991G>A:p.Ala1331Thr	coding	Pathogenic
10	77980178	A	G	A77980178G	POLR3A	NM_007055.4(POLR3A):c.3987T>C:p.Phe1329=	coding	Benign
10	77980264	G	A	G77980264A	POLR3A	NM_007055.4(POLR3A):c.3901C>T:p.Leu1301=	coding	Benign
10	77981473	G	A	G77981473A	POLR3A	NM_007055.4(POLR3A):c.3846C>T:p.Ile1282=	coding	Benign
10	77982253	C	T	C77982253T	POLR3A	NM_007055.4(POLR3A):c.3660G>A:p.Lys1220=	coding	Benign/Likely_benign
10	77982268	G	A	G77982268A	POLR3A	NM_007055.4(POLR3A):c.3645C>T:p.Asp1215=	coding	Benign
10	77982638	C	T	C77982638T	POLR3A	NM_007055.4(POLR3A):c.3594+15G>A	noncoding	Benign
10	77982642	T	G	T77982642G	POLR3A	NM_007055.4(POLR3A):c.3594+11A>C	noncoding	Benign
10	77983998	A	T	A77983998T	POLR3A	NM_007055.4(POLR3A):c.3351T>A:p.Ile1117=	coding	Benign
10	77984013	C	T	C77984013T	POLR3A	NM_007055.4(POLR3A):c.3337-1G>A	coding	Pathogenic
10	77984017	A	T	A77984017T	POLR3A	NM_007055.4(POLR3A):c.3337-5T>A	noncoding	Pathogenic/Likely_pathogenic
10	77984023	A	G	A77984023G	POLR3A	NM_007055.4(POLR3A):c.3337-11T>C	noncoding	Pathogenic/Likely_pathogenic
10	77984250	A	C	A77984250C	POLR3A	NM_007055.4(POLR3A):c.3291T>G:p.Tyr1097Ter	coding	Pathogenic
10	77984262	G	A	G77984262A	POLR3A	NM_007055.4(POLR3A):c.3279C>T:p.Asp1093=	coding	Benign
10	77984299	C	T	C77984299T	POLR3A	NM_007055.4(POLR3A):c.3243-1G>A	coding	Pathogenic
10	77984300	T	C	T77984300C	POLR3A	NM_007055.4(POLR3A):c.3243-2A>G	noncoding	Pathogenic
10	77985938	T	C	T77985938C	POLR3A	NM_007055.4(POLR3A):c.3036A>G:p.Glu1012=	coding	Benign/Likely_benign
10	77985960	C	T	C77985960T	POLR3A	NM_007055.4(POLR3A):c.3014G>A:p.Arg1005His	coding	Pathogenic
10	77985961	G	A	G77985961A	POLR3A	NM_007055.4(POLR3A):c.3013C>T:p.Arg1005Cys	coding	Pathogenic
10	77985977	C	A	C77985977A	POLR3A	NM_007055.4(POLR3A):c.2997G>T:p.Val999=	coding	Benign
10	77991125	C	A	C77991125A	POLR3A	NM_007055.4(POLR3A):c.2830G>T:p.Glu944Ter	coding	Pathogenic
10	77993294	A	T	A77993294T	POLR3A	NM_007055.4(POLR3A):c.2690T>A:p.Ile897Asn	coding	Pathogenic
10	77993367	G	A	G77993367A	POLR3A	NM_007055.4(POLR3A):c.2617C>T:p.Arg873Ter	coding	Pathogenic
10	77993368	C	T	C77993368T	POLR3A	NM_007055.4(POLR3A):c.2617-1G>A	coding	Pathogenic/Likely_pathogenic
10	78000017	G	A	G78000017A	POLR3A	NM_007055.4(POLR3A):c.2580C>T:p.Asp860=	coding	Benign/Likely_benign
10	78000982	G	A	G78000982A	POLR3A	NM_007055.4(POLR3A):c.2472C>T:p.His824=	coding	Benign/Likely_benign
10	78001060	A	G	A78001060G	POLR3A	NM_007055.4(POLR3A):c.2394T>C:p.Cys798=	coding	Benign
10	78001076	G	C	G78001076C	POLR3A	NM_007055.4(POLR3A):c.2378C>G:p.Ser793Ter	coding	Pathogenic
10	78002222	G	A	G78002222A	POLR3A	NM_007055.4(POLR3A):c.2334C>T:p.Leu778=	coding	Benign
10	78002231	G	C	G78002231C	POLR3A	NM_007055.4(POLR3A):c.2325C>G:p.Asn775Lys	coding	Pathogenic
10	78002232	T	A	T78002232A	POLR3A	NM_007055.4(POLR3A):c.2324A>T:p.Asn775Ile	coding	Pathogenic
10	78002270	G	A	G78002270A	POLR3A	NM_007055.4(POLR3A):c.2286C>T:p.His762=	coding	Benign
10	78004708	G	A	G78004708A	POLR3A	NM_007055.4(POLR3A):c.2247+8C>T	noncoding	Benign
10	78004767	G	A	G78004767A	POLR3A	NM_007055.4(POLR3A):c.2196C>T:p.Asn732=	coding	Benign/Likely_benign
10	78004792	C	T	C78004792T	POLR3A	NM_007055.4(POLR3A):c.2171G>A:p.Cys724Tyr	coding	Pathogenic
10	78004844	G	A	G78004844A	POLR3A	NM_007055.4(POLR3A):c.2119C>T:p.Gln707Ter	coding	Pathogenic/Likely_pathogenic
10	78004863	G	A	G78004863A	POLR3A	NM_007055.4(POLR3A):c.2100C>T:p.Ile700=	coding	Benign
10	78007761	C	T	C78007761T	POLR3A	NM_007055.4(POLR3A):c.2015G>A:p.Gly672Glu	coding	Pathogenic
10	78007771	G	A	G78007771A	POLR3A	NM_007055.4(POLR3A):c.2005C>T:p.Arg669Ter	coding	Pathogenic
10	78009519	C	T	C78009519T	POLR3A	NM_007055.4(POLR3A):c.1909+18G>A	noncoding	Pathogenic/Likely_pathogenic
10	78009539	G	T	G78009539T	POLR3A	NM_007055.4(POLR3A):c.1907C>A:p.Ser636Tyr	coding	Pathogenic
10	78009681	G	A	G78009681A	POLR3A	NM_007055.4(POLR3A):c.1771-6C>T	noncoding	Benign
10	78009681	G	C	G78009681C	POLR3A	NM_007055.4(POLR3A):c.1771-6C>G	noncoding	Pathogenic
10	78009682	G	A	G78009682A	POLR3A	NM_007055.4(POLR3A):c.1771-7C>T	noncoding	Benign/Likely_benign
10	78009889	C	A	C78009889A	POLR3A	NM_007055.4(POLR3A):c.1745G>T:p.Arg582Leu	coding	Benign
10	78009889	C	T	C78009889T	POLR3A	NM_007055.4(POLR3A):c.1745G>A:p.Arg582His	coding	Benign/Likely_benign
10	78009910	T	A	T78009910A	POLR3A	NM_007055.4(POLR3A):c.1724A>T:p.Lys575Met	coding	Benign/Likely_benign
10	78009953	G	A	G78009953A	POLR3A	NM_007055.4(POLR3A):c.1681C>T:p.Arg561Ter	coding	Pathogenic
10	78010538	A	C	A78010538C	POLR3A	NM_007055.4(POLR3A):c.1575T>G:p.Thr525=	coding	Benign
10	78013649	C	T	C78013649T	POLR3A	NM_007055.4(POLR3A):c.1572+1G>A	noncoding	Pathogenic
10	78013656	C	A	C78013656A	POLR3A	NM_007055.4(POLR3A):c.1566G>T:p.Leu522=	coding	Benign
10	78017695	T	C	T78017695C	POLR3A	NM_007055.4(POLR3A):c.1311A>G:p.Arg437=	coding	Benign/Likely_benign
10	78019224	T	C	T78019224C	POLR3A	NM_007055.4(POLR3A):c.1227A>G:p.Gln409=	coding	Benign
10	78021617	C	T	C78021617T	POLR3A	NM_007055.4(POLR3A):c.1114G>A:p.Asp372Asn	coding	Pathogenic
10	78021680	G	A	G78021680A	POLR3A	NM_007055.4(POLR3A):c.1051C>T:p.Arg351Ter	coding	Pathogenic
10	78021897	C	T	C78021897T	POLR3A	NM_007055.4(POLR3A):c.1011G>A:p.Trp337Ter	coding	Pathogenic
10	78022270	G	A	G78022270A	POLR3A	NM_007055.4(POLR3A):c.760C>T:p.Arg254Ter	coding	Pathogenic/Likely_pathogenic
10	78022289	C	T	C78022289T	POLR3A	NM_007055.4(POLR3A):c.741G>A:p.Pro247=	coding	Benign/Likely_benign
10	78024573	C	T	C78024573T	POLR3A	NM_007055.4(POLR3A):c.621G>A:p.Val207=	coding	Benign
10	78024705	T	C	T78024705C	POLR3A	NM_007055.4(POLR3A):c.491-2A>G	noncoding	Pathogenic
10	78024970	C	T	C78024970T	POLR3A	NM_007055.4(POLR3A):c.490+1G>A	noncoding	Pathogenic
10	78025023	G	A	G78025023A	POLR3A	NM_007055.4(POLR3A):c.438C>T:p.Ile146=	coding	Benign
10	78025043	G	A	G78025043A	POLR3A	NM_007055.4(POLR3A):c.418C>T:p.Arg140Ter	coding	Pathogenic
10	78025700	T	G	T78025700G	POLR3A	NM_007055.4(POLR3A):c.240A>C:p.Leu80=	coding	Benign
10	78026183	G	A	G78026183A	POLR3A	NM_007055.4(POLR3A):c.91C>T:p.Gln31Ter	coding	Pathogenic
10	78029405	C	A	C78029405A	POLR3A	NM_007055.4(POLR3A):c.3G>T:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
10	78033793	A	G	A78033793G	RPS24;POLR3A	NM_033022.3(RPS24):c.-109A>G	noncoding	Benign
10	78033866	T	G	T78033866G	RPS24	NM_033022.3(RPS24):c.-36T>G	noncoding	Benign
10	78033870	C	T	C78033870T	RPS24	NM_033022.4(RPS24):c.-32C>T	noncoding	Benign
10	78033894	T	G	T78033894G	RPS24;POLR3A	NM_033022.3(RPS24):c.-8T>G	noncoding	Benign/Likely_benign
10	78033895	C	A	C78033895A	RPS24	NM_033022.4(RPS24):c.-7C>A	noncoding	Benign
10	78033902	A	G	A78033902G	RPS24	NM_033022.3(RPS24):c.1A>G:p.Met1Val	coding	Pathogenic
10	78035394	C	T	C78035394T	RPS24	NM_033022.3(RPS24):c.46C>T:p.Arg16Ter	coding	Pathogenic
10	78035589	A	C	A78035589C	RPS24	NM_033022.3(RPS24):c.148A>C:p.Thr50Pro	coding	Pathogenic
10	78035609	T	C	T78035609C	RPS24	NM_033022.3(RPS24):c.168T>C:p.Phe56=	coding	Benign
10	78035618	A	G	A78035618G	RPS24	NM_033022.3(RPS24):c.177A>G:p.Gly59=	coding	Benign/Likely_benign
10	78035676	C	T	C78035676T	RPS24	NM_033022.3(RPS24):c.235C>T:p.Leu79=	coding	Benign
10	78037230	C	T	C78037230T	RPS24	NM_033022.3(RPS24):c.316C>T:p.Gln106Ter	coding	Pathogenic
10	78037277	A	G	A78037277G	RPS24	NM_033022.3(RPS24):c.363A>G:p.Ala121=	coding	Benign
10	78037285	A	G	A78037285G	RPS24	NM_033022.3(RPS24):c.371A>G:p.Asn124Ser	coding	Benign/Likely_benign
10	78037292	T	G	T78037292G	RPS24	NM_033022.4(RPS24):c.378T>G:p.Gly126=	coding	Benign
10	78040201	C	A	C78040201A	RPS24	NM_033022.4(RPS24):c.391-3C>A	coding	Benign
10	78040616	C	T	C78040616T	RPS24	NM_033022.3(RPS24):c.*21C>T	coding	Benign
10	78040694	T	C	T78040694C	RPS24	NM_033022.3(RPS24):c.*99T>C	coding	Benign
10	79289784	G	A	G79289784A	ZMIZ1	NM_020338.4(ZMIZ1):c.435G>A:p.Ser145=	coding	Benign
10	79292176	C	T	C79292176T	ZMIZ1	NM_020338.4(ZMIZ1):c.777C>T:p.Asn259=	coding	Benign
10	79292286	C	A	C79292286A	ZMIZ1	NM_020338.4(ZMIZ1):c.887C>A:p.Thr296Lys	coding	Pathogenic
10	79292298	C	T	C79292298T	ZMIZ1	NM_020338.4(ZMIZ1):c.899C>T:p.Thr300Met	coding	Pathogenic
10	79296461	C	T	C79296461T	ZMIZ1	NM_020338.4(ZMIZ1):c.1231-10C>T	noncoding	Benign
10	79296612	C	T	C79296612T	ZMIZ1	NM_020338.4(ZMIZ1):c.1372C>T:p.Gln458Ter	coding	Pathogenic
10	79304157	C	T	C79304157T	ZMIZ1	NM_020338.4(ZMIZ1):c.2268C>T:p.His756=	coding	Benign
10	79306124	C	T	C79306124T	ZMIZ1	NM_020338.4(ZMIZ1):c.2448C>T:p.Ile816=	coding	Benign
10	79312640	A	G	A79312640G	ZMIZ1	NM_020338.4(ZMIZ1):c.3097-2A>G	noncoding	Pathogenic
10	79353779	C	T	C79353779T	PPIF	NM_005729.4(PPIF):c.561C>T:p.Phe187=	coding	Benign
10	79353830	C	G	C79353830G	PPIF	NM_005729.4(PPIF):c.612C>G:p.Gly204=	coding	Benign
10	79611881	T	C	T79611881C	SFTPA1	NM_005411.5(SFTPA1):c.56T>C:p.Val19Ala	coding	Benign/Likely_benign
10	79611942	C	T	C79611942T	SFTPA1	NM_005411.5(SFTPA1):c.117C>T:p.His39=	coding	Benign
10	79611973	C	G	C79611973G	SFTPA1	NM_005411.5(SFTPA1):c.148C>G:p.Leu50Val	coding	Benign/Likely_benign
10	79612325	A	G	A79612325G	SFTPA1	NM_005411.5(SFTPA1):c.186A>G:p.Pro62=	coding	Benign
10	79612410	C	G	C79612410G	SFTPA1	NM_005411.5(SFTPA1):c.271C>G:p.Pro91Ala	coding	Benign
10	79613238	T	C	T79613238C	SFTPA1	NM_005411.5(SFTPA1):c.342T>C:p.Phe114=	coding	Benign/Likely_benign
10	79613765	A	G	A79613765G	SFTPA1	NM_005411.5(SFTPA1):c.399A>G:p.Thr133=	coding	Benign
10	79613918	T	C	T79613918C	SFTPA1	NM_005411.5(SFTPA1):c.552T>C:p.Tyr184=	coding	Benign
10	79613972	C	T	C79613972T	SFTPA1	NM_005411.5(SFTPA1):c.606C>T:p.Asp202=	coding	Benign/Likely_benign
10	79614014	C	T	C79614014T	SFTPA1	NM_005411.5(SFTPA1):c.648C>T:p.Pro216=	coding	Benign
10	79614021	C	T	C79614021T	SFTPA1	NM_005411.5(SFTPA1):c.655C>T:p.Arg219Trp	coding	Benign
10	79938055	C	T	C79938055T	SFTPD	NM_003019.5(SFTPD):c.925G>A:p.Glu309Lys	coding	Benign
10	79938062	A	G	A79938062G	SFTPD	NM_003019.5(SFTPD):c.918T>C:p.Ala306=	coding	Benign
10	79938112	A	T	A79938112T	SFTPD	NM_003019.5(SFTPD):c.868T>A:p.Ser290Thr	coding	Benign
10	79941966	T	C	T79941966C	SFTPD	NM_003019.5(SFTPD):c.538A>G:p.Thr180Ala	coding	Benign
10	79942454	G	C	G79942454C	SFTPD	NM_003019.5(SFTPD):c.367C>G:p.Leu123Val	coding	Benign
10	79942782	C	T	C79942782T	SFTPD	NM_003019.5(SFTPD):c.297G>A:p.Lys99=	coding	Benign
10	79946452	C	T	C79946452T	SFTPD	NM_003019.5(SFTPD):c.199+9G>A	noncoding	Benign
10	79946525	A	G	A79946525G	SFTPD	NM_003019.5(SFTPD):c.135T>C:p.Ser45=	coding	Benign
10	79946568	A	G	A79946568G	SFTPD	NM_003019.5(SFTPD):c.92T>C:p.Met31Thr	coding	Benign
10	80157730	T	C	T80157730C	ANXA11	NM_145868.2(ANXA11):c.1369A>G:p.Ile457Val	coding	Benign
10	80162010	C	T	C80162010T	ANXA11	NM_145868.2(ANXA11):c.1105G>A:p.Glu369Lys	coding	Benign
10	80166204	G	C	G80166204C	ANXA11	NM_145868.2(ANXA11):c.745-7C>G	noncoding	Benign
10	80169007	C	T	C80169007T	ANXA11	NM_145868.2(ANXA11):c.523G>A:p.Gly175Arg	coding	Pathogenic
10	80170852	T	C	T80170852C	ANXA11	NM_145868.2(ANXA11):c.119A>G:p.Asp40Gly	coding	Pathogenic
10	80170859	C	T	C80170859T	ANXA11	NM_145868.2(ANXA11):c.112G>A:p.Gly38Arg	coding	Pathogenic
10	80272483	C	T	C80272483T	MAT1A	NM_000429.3(MAT1A):c.*1298G>A	noncoding	Benign
10	80272484	A	G	A80272484G	MAT1A	NM_000429.3(MAT1A):c.*1297T>C	noncoding	Benign
10	80272489	C	G	C80272489G	MAT1A	NM_000429.3(MAT1A):c.*1292G>C	noncoding	Benign
10	80272575	C	T	C80272575T	MAT1A	NM_000429.3(MAT1A):c.*1206G>A	noncoding	Benign
10	80272689	G	C	G80272689C	MAT1A	NM_000429.3(MAT1A):c.*1092C>G	noncoding	Benign
10	80272799	T	A	T80272799A	MAT1A	NM_000429.3(MAT1A):c.*982A>T	noncoding	Benign
10	80272918	C	T	C80272918T	MAT1A	NM_000429.3(MAT1A):c.*863G>A	noncoding	Benign
10	80273212	G	C	G80273212C	MAT1A	NM_000429.3(MAT1A):c.*569C>G	noncoding	Benign
10	80273252	C	T	C80273252T	MAT1A	NM_000429.3(MAT1A):c.*529G>A	noncoding	Benign
10	80273482	C	T	C80273482T	MAT1A	NM_000429.3(MAT1A):c.*299G>A	noncoding	Benign
10	80273506	G	A	G80273506A	MAT1A	NM_000429.3(MAT1A):c.*275C>T	noncoding	Benign
10	80273714	G	A	G80273714A	MAT1A	NM_000429.3(MAT1A):c.*67C>T	noncoding	Benign
10	80273837	C	T	C80273837T	MAT1A	NM_000429.3(MAT1A):c.1132G>A:p.Gly378Ser	coding	Pathogenic
10	80273838	G	A	G80273838A	MAT1A	NM_000429.3(MAT1A):c.1131C>T:p.Tyr377=	coding	Benign
10	80274506	G	A	G80274506A	MAT1A	NM_000429.3(MAT1A):c.1085+14C>T	noncoding	Benign
10	80274535	G	A	G80274535A	MAT1A	NM_000429.3(MAT1A):c.1070C>T:p.Pro357Leu	coding	Pathogenic/Likely_pathogenic
10	80274539	G	A	G80274539A	MAT1A	NM_000429.3(MAT1A):c.1066C>T:p.Arg356Trp	coding	Pathogenic
10	80274599	C	T	C80274599T	MAT1A	NM_000429.3(MAT1A):c.1006G>A:p.Gly336Arg	coding	Pathogenic
10	80274600	G	A	G80274600A	MAT1A	NM_000429.3(MAT1A):c.1005C>T:p.Tyr335=	coding	Benign
10	80274639	A	C	A80274639C	MAT1A	NM_000429.3(MAT1A):c.966T>G:p.Ile322Met	coding	Pathogenic
10	80275054	A	G	A80275054G	MAT1A	NM_000429.3(MAT1A):c.914T>C:p.Leu305Pro	coding	Pathogenic
10	80275073	G	A	G80275073A	MAT1A	NM_000429.3(MAT1A):c.895C>T:p.Arg299Cys	coding	Pathogenic
10	80275083	T	A	T80275083A	MAT1A	NM_000429.3(MAT1A):c.885A>T:p.Ala295=	coding	Benign
10	80275086	A	G	A80275086G	MAT1A	NM_000429.3(MAT1A):c.882T>C:p.Ala294=	coding	Benign
10	80275098	T	C	T80275098C	MAT1A	NM_000429.3(MAT1A):c.870A>G:p.Val290=	coding	Benign
10	80275177	C	T	C80275177T	MAT1A	NM_000429.3(MAT1A):c.791G>A:p.Arg264His	coding	Pathogenic
10	80275178	G	A	G80275178A	MAT1A	NM_000429.3(MAT1A):c.790C>T:p.Arg264Cys	coding	Pathogenic
10	80275179	G	A	G80275179A	MAT1A	NM_000429.3(MAT1A):c.789C>T:p.Gly263=	coding	Benign/Likely_benign
10	80275192	G	A	G80275192A	MAT1A	NM_000429.3(MAT1A):c.776C>T:p.Ala259Val	coding	Pathogenic
10	80280198	C	T	C80280198T	MAT1A	NM_000429.3(MAT1A):c.524G>A:p.Trp175Ter	coding	Pathogenic
10	80280296	A	G	A80280296G	MAT1A	NM_000429.3(MAT1A):c.426T>C:p.Ala142=	coding	Benign
10	80285498	C	T	C80285498T	MAT1A	NM_000429.3(MAT1A):c.169+14G>A	noncoding	Benign
10	80285517	G	T	G80285517T	MAT1A	NM_000429.3(MAT1A):c.164C>A:p.Ala55Asp	coding	Pathogenic
10	80285598	G	C	G80285598C	MAT1A	NM_000429.3(MAT1A):c.92-9C>G	noncoding	Benign
10	80289496	T	C	T80289496C	MAT1A	NM_000429.3(MAT1A):c.-73A>G	noncoding	Benign
10	80289576	G	A	G80289576A	MAT1A	NM_000429.3(MAT1A):c.-153C>T	noncoding	Benign
10	80362513	G	T	G80362513T	DYDC2	NM_032372.6(DYDC2):c.70G>T:p.Val24Phe	coding	Benign
10	80362949	A	G	A80362949G	DYDC2	NM_032372.6(DYDC2):c.148-2A>G	noncoding	Benign
10	80489284	C	T	C80489284T	TSPAN14	NM_030927.3(TSPAN14):c.51C>T:p.Tyr17=	coding	Benign
10	81875637	C	T	C81875637T	NRG3	NM_001010848.4(NRG3):c.297C>T:p.Pro99=	coding	Benign
10	81876042	C	T	C81876042T	NRG3	NM_001010848.4(NRG3):c.702C>T:p.Tyr234=	coding	Benign
10	82958962	C	G	C82958962G	NRG3	NM_001010848.4(NRG3):c.1171C>G:p.Gln391Glu	coding	Benign
10	82978951	A	C	A82978951C	NRG3	NM_001010848.4(NRG3):c.1414A>C:p.Ser472Arg	coding	Benign
10	82979025	G	A	G82979025A	NRG3	NM_001010848.4(NRG3):c.1488G>A:p.Pro496=	coding	Benign
10	82985465	G	A	G82985465A	NRG3	NM_001010848.4(NRG3):c.1951G>A:p.Glu651Lys	coding	Benign
10	82985521	C	G	C82985521G	NRG3	NM_001010848.4(NRG3):c.2007C>G:p.Pro669=	coding	Benign
10	84194760	C	T	C84194760T	CDHR1	NM_033100.4(CDHR1):c.-1C>T	noncoding	Benign/Likely_benign
10	84194761	A	T	A84194761T	CDHR1	NM_033100.4(CDHR1):c.1A>T:p.Met1Leu	coding	Pathogenic
10	84196656	G	A	G84196656A	CDHR1	NM_033100.4(CDHR1):c.297+6G>A	noncoding	Benign/Likely_benign
10	84200639	A	G	A84200639G	CDHR1	NM_033100.4(CDHR1):c.477A>G:p.Ala159=	coding	Benign
10	84200648	G	C	G84200648C	CDHR1	NM_033100.4(CDHR1):c.486G>C:p.Arg162Ser	coding	Benign/Likely_benign
10	84201852	C	T	C84201852T	CDHR1	NM_033100.4(CDHR1):c.571C>T:p.Arg191Cys	coding	Benign
10	84202964	T	C	T84202964C	CDHR1	NM_033100.4(CDHR1):c.640-16T>C	noncoding	Benign
10	84203068	C	T	C84203068T	CDHR1	NM_033100.4(CDHR1):c.728C>T:p.Ala243Val	coding	Benign/Likely_benign
10	84204581	C	T	C84204581T	CDHR1	NM_033100.4(CDHR1):c.838C>T:p.Arg280Ter	coding	Pathogenic
10	84205818	C	T	C84205818T	CDHR1	NM_033100.4(CDHR1):c.863-9C>T	noncoding	Benign/Likely_benign
10	84205826	G	A	G84205826A	CDHR1	NM_033100.4(CDHR1):c.863-1G>A	noncoding	Pathogenic
10	84211061	C	T	C84211061T	CDHR1	NM_033100.4(CDHR1):c.1381C>T:p.Gln461Ter	coding	Pathogenic
10	84211167	T	C	T84211167C	CDHR1	NM_033100.4(CDHR1):c.1485+2T>C	noncoding	Pathogenic
10	84211167	T	G	T84211167G	CDHR1	NM_033100.4(CDHR1):c.1485+2T>G	noncoding	Pathogenic
10	84211677	C	T	C84211677T	CDHR1	NM_033100.4(CDHR1):c.1515C>T:p.Gly505=	coding	Benign/Likely_benign
10	84212287	A	G	A84212287G	CDHR1	NM_033100.4(CDHR1):c.1662A>G:p.Glu554=	coding	Benign
10	84214471	C	A	C84214471A	CDHR1	NM_033100.4(CDHR1):c.2430C>A:p.Thr810=	coding	Benign/Likely_benign
10	84214475	C	T	C84214475T	CDHR1	NM_033100.4(CDHR1):c.2434C>T:p.Pro812Ser	coding	Benign/Likely_benign
10	84214480	T	C	T84214480C	CDHR1	NM_033100.4(CDHR1):c.2439T>C:p.Thr813=	coding	Benign
10	84214625	A	G	A84214625G	CDHR1	NM_033100.4(CDHR1):c.*4A>G	coding	Benign
10	84215388	C	T	C84215388T	CDHR1	NM_033100.4(CDHR1):c.*767C>T	coding	Benign
10	84215490	T	G	T84215490G	CDHR1	NM_033100.4(CDHR1):c.*869T>G	coding	Benign
10	84215981	C	A	C84215981A	CDHR1	NM_033100.4(CDHR1):c.*1360C>A	coding	Benign
10	84217209	A	C	A84217209C	CDHR1	NM_033100.4(CDHR1):c.*2588A>C	coding	Benign
10	84217264	A	T	A84217264T	CDHR1	NM_033100.4(CDHR1):c.*2643A>T	coding	Benign
10	84217419	G	A	G84217419A	CDHR1	NM_033100.4(CDHR1):c.*2798G>A	coding	Benign
10	84217641	G	A	G84217641A	CDHR1	NM_033100.4(CDHR1):c.*3020G>A	coding	Benign
10	84218125	A	C	A84218125C	CDHR1	NM_033100.4(CDHR1):c.*3504A>C	coding	Benign
10	84218389	G	C	G84218389C	CDHR1	NM_033100.4(CDHR1):c.*3768G>C	coding	Benign
10	84245109	C	T	C84245109T	RGR	NM_001012720.2(RGR):c.19C>T:p.Leu7=	coding	Benign
10	84245117	T	C	T84245117C	RGR	NM_001012720.2(RGR):c.27T>C:p.Thr9=	coding	Benign
10	84248934	C	T	C84248934T	RGR	NM_001012720.2(RGR):c.249C>T:p.Tyr83=	coding	Benign
10	84252957	C	T	C84252957T	RGR	NM_001012720.2(RGR):c.459C>T:p.Tyr153=	coding	Benign
10	84257984	C	T	C84257984T	RGR	NM_001012720.2(RGR):c.722C>T:p.Ser241Phe	coding	Benign
10	84258603	C	G	C84258603G	RGR	NM_001012720.2(RGR):c.840C>G:p.Leu280=	coding	Benign
10	84258704	A	G	A84258704G	RGR	NM_001012720.2(RGR):c.*65A>G	noncoding	Benign
10	86206442	G	A	G86206442A	GRID1	NM_017551.3(GRID1):c.442C>T:p.Arg148Cys	coding	Benign
10	86206447	G	A	G86206447A	GRID1	NM_017551.3(GRID1):c.437C>T:p.Pro146Leu	coding	Benign
10	86663724	C	G	C86663724G	OPN4	NM_033282.4(OPN4):c.1320C>G:p.Leu440=	coding	Benign
10	86663735	G	A	G86663735A	OPN4	NM_033282.4(OPN4):c.1331G>A:p.Gly444Asp	coding	Benign
10	86668290	G	A	G86668290A	LDB3	NM_001368063.1(LDB3):c.-23-379G>A	noncoding	Benign
10	86668319	A	T	A86668319T	LDB3	NM_001368063.1(LDB3):c.-23-350A>T	noncoding	Benign
10	86668401	T	C	T86668401C	LDB3	NM_001368063.1(LDB3):c.-23-268T>C	noncoding	Benign
10	86668410	G	T	G86668410T	LDB3	NM_001368063.1(LDB3):c.-23-259G>T	noncoding	Benign
10	86668545	C	T	C86668545T	LDB3	NM_007078.3(LDB3):c.-49C>T	noncoding	Benign
10	86668546	G	A	G86668546A	LDB3	NM_007078.3(LDB3):c.-48G>A	noncoding	Benign
10	86668558	A	G	A86668558G	LDB3	NM_007078.3(LDB3):c.-36A>G	noncoding	Benign
10	86668578	T	C	T86668578C	LDB3	NM_007078.3(LDB3):c.-24+8T>C	noncoding	Benign/Likely_benign
10	86668949	C	A	C86668949A	LDB3	NM_007078.3(LDB3):c.93+165C>A	noncoding	Benign
10	86668961	C	T	C86668961T	LDB3	NM_007078.3(LDB3):c.93+177C>T	noncoding	Benign
10	86679073	T	C	T86679073C	LDB3	NM_007078.3(LDB3):c.94-294T>C	noncoding	Benign
10	86679243	G	A	G86679243A	LDB3	NM_007078.3(LDB3):c.94-124G>A	noncoding	Benign
10	86679248	G	A	G86679248A	LDB3	NM_007078.3(LDB3):c.94-119G>A	noncoding	Benign
10	86679420	G	A	G86679420A	LDB3	NM_007078.3(LDB3):c.147G>A:p.Val49=	coding	Benign/Likely_benign
10	86679435	C	T	C86679435T	LDB3	NM_007078.3(LDB3):c.162C>T:p.Gly54=	coding	Benign
10	86679436	G	A	G86679436A	LDB3	NM_007078.3(LDB3):c.163G>A:p.Val55Ile	coding	Benign/Likely_benign
10	86679674	A	C	A86679674C	LDB3	NM_007078.3(LDB3):c.245+156A>C	noncoding	Benign
10	86679796	T	C	T86679796C	LDB3	NM_007078.3(LDB3):c.245+278T>C	noncoding	Benign
10	86679920	C	T	C86679920T	LDB3	NM_007078.3(LDB3):c.246-162C>T	noncoding	Benign
10	86680109	G	A	G86680109A	LDB3	NM_007078.3(LDB3):c.273G>A:p.Thr91=	coding	Benign/Likely_benign
10	86680131	C	T	C86680131T	LDB3	NM_007078.3(LDB3):c.295C>T:p.Pro99Ser	coding	Benign/Likely_benign
10	86680138	C	T	C86680138T	LDB3	NM_007078.3(LDB3):c.302C>T:p.Pro101Leu	coding	Benign/Likely_benign
10	86680261	G	A	G86680261A	LDB3	NM_007078.3(LDB3):c.321+104G>A	noncoding	Benign
10	86680349	G	C	G86680349C	LDB3	NM_007078.3(LDB3):c.321+192G>C	noncoding	Benign
10	86680405	G	A	G86680405A	LDB3	NM_007078.3(LDB3):c.321+248G>A	noncoding	Benign
10	86681146	C	G	C86681146G	LDB3	NM_007078.3(LDB3):c.322-290C>G	noncoding	Benign
10	86681239	C	G	C86681239G	LDB3	NM_007078.3(LDB3):c.322-197C>G	noncoding	Benign
10	86681275	A	G	A86681275G	LDB3	NM_007078.3(LDB3):c.322-161A>G	noncoding	Benign
10	86681280	T	C	T86681280C	LDB3	NM_007078.3(LDB3):c.322-156T>C	noncoding	Benign
10	86681466	G	A	G86681466A	LDB3	NM_007078.3(LDB3):c.352G>A:p.Val118Met	coding	Benign/Likely_benign
10	86681492	G	A	G86681492A	LDB3	NM_007078.3(LDB3):c.378G>A:p.Ala126=	coding	Benign/Likely_benign
10	86681537	C	A	C86681537A	LDB3	NM_007078.3(LDB3):c.423C>A:p.Thr141=	coding	Benign
10	86681579	C	T	C86681579T	LDB3	NM_007078.3(LDB3):c.465C>T:p.Leu155=	coding	Benign/Likely_benign
10	86681580	G	A	G86681580A	LDB3	NM_007078.3(LDB3):c.466G>A:p.Ala156Thr	coding	Benign/Likely_benign
10	86681674	C	T	C86681674T	LDB3	NM_007078.3(LDB3):c.560C>T:p.Pro187Leu	coding	Benign
10	86681690	G	A	G86681690A	LDB3	NM_007078.3(LDB3):c.576G>A:p.Pro192=	coding	Benign/Likely_benign
10	86681690	G	T	G86681690T	LDB3	NM_007078.3(LDB3):c.576G>T:p.Pro192=	coding	Benign
10	86681723	G	A	G86681723A	LDB3	NM_007078.3(LDB3):c.609G>A:p.Ser203=	coding	Benign
10	86681731	C	T	C86681731T	LDB3	NM_007078.3(LDB3):c.617C>T:p.Thr206Ile	coding	Pathogenic
10	86681812	C	T	C86681812T	LDB3	NM_007078.3(LDB3):c.689+9C>T	noncoding	Benign/Likely_benign
10	86681813	G	A	G86681813A	LDB3	NM_007078.3(LDB3):c.689+10G>A	noncoding	Benign/Likely_benign
10	86681952	A	G	A86681952G	LDB3	NM_007078.3(LDB3):c.689+149A>G	noncoding	Benign
10	86685628	G	C	G86685628C	LDB3	NM_007078.3(LDB3):c.689+3825G>C	noncoding	Benign
10	86685984	C	T	C86685984T	LDB3	NM_007078.3(LDB3):c.689+4181C>T	noncoding	Benign
10	86686876	A	T	A86686876T	LDB3	NM_007078.3(LDB3):c.690-5020A>T	noncoding	Benign
10	86687054	G	A	G86687054A	LDB3	NM_007078.3(LDB3):c.690-4842G>A	noncoding	Benign/Likely_benign
10	86687059	C	T	C86687059T	LDB3	NM_007078.3(LDB3):c.690-4837C>T	noncoding	Benign
10	86687114	G	A	G86687114A	LDB3	NM_007078.3(LDB3):c.690-4782G>A	coding	Benign
10	86687228	T	C	T86687228C	LDB3	NM_007078.3(LDB3):c.690-4668T>C	coding	Benign/Likely_benign
10	86687243	G	A	G86687243A	LDB3	NM_007078.3(LDB3):c.690-4653G>A	coding	Benign
10	86687325	A	C	A86687325C	LDB3	NM_007078.3(LDB3):c.690-4571A>C	noncoding	Benign
10	86687420	C	T	C86687420T	LDB3	NM_007078.3(LDB3):c.690-4476C>T	noncoding	Benign
10	86691846	G	C	G86691846C	LDB3	NM_007078.3(LDB3):c.690-50G>C	noncoding	Benign
10	86691920	C	T	C86691920T	LDB3	NM_007078.3(LDB3):c.714C>T:p.Ala238=	coding	Benign/Likely_benign
10	86691938	C	T	C86691938T	LDB3	NM_007078.3(LDB3):c.732C>T:p.Pro244=	coding	Benign/Likely_benign
10	86691958	A	G	A86691958G	LDB3	NM_007078.3(LDB3):c.752A>G:p.Lys251Arg	coding	Benign/Likely_benign
10	86692079	C	G	C86692079G	LDB3	NM_007078.3(LDB3):c.859+14C>G	noncoding	Benign
10	86692112	G	C	G86692112C	LDB3	NM_007078.3(LDB3):c.859+47G>C	noncoding	Benign
10	86692542	C	T	C86692542T	LDB3	NM_007078.3(LDB3):c.867C>T:p.Asp289=	coding	Benign/Likely_benign
10	86692544	C	T	C86692544T	LDB3	NM_007078.3(LDB3):c.869C>T:p.Pro290Leu	coding	Pathogenic
10	86692566	G	A	G86692566A	LDB3	NM_007078.3(LDB3):c.891G>A:p.Arg297=	coding	Benign/Likely_benign
10	86692616	G	A	G86692616A	LDB3	NM_007078.3(LDB3):c.896+45G>A	noncoding	Benign
10	86699302	C	T	C86699302T	LDB3	NM_007078.3(LDB3):c.896+6731C>T	coding	Benign/Likely_benign
10	86699394	C	T	C86699394T	LDB3	NM_007078.3(LDB3):c.896+6823C>T	coding	Benign
10	86706227	A	C	A86706227C	LDB3	NM_007078.3(LDB3):c.897-304A>C	noncoding	Benign
10	86706515	G	C	G86706515C	LDB3	NM_007078.3(LDB3):c.897-16G>C	noncoding	Benign/Likely_benign
10	86706588	C	T	C86706588T	LDB3	NM_007078.3(LDB3):c.954C>T:p.Pro318=	coding	Benign/Likely_benign
10	86706627	G	A	G86706627A	LDB3	NM_007078.3(LDB3):c.993G>A:p.Ala331=	coding	Benign/Likely_benign
10	86706648	A	G	A86706648G	LDB3	NM_007078.3(LDB3):c.1014A>G:p.Thr338=	coding	Benign/Likely_benign
10	86706669	C	G	C86706669G	LDB3	NM_007078.3(LDB3):c.1035C>G:p.Ile345Met	coding	Pathogenic
10	86706669	C	T	C86706669T	LDB3	NM_007078.3(LDB3):c.1035C>T:p.Ile345=	coding	Benign/Likely_benign
10	86706675	C	A	C86706675A	LDB3	NM_007078.3(LDB3):c.1041C>A:p.Ser347=	coding	Benign
10	86706708	C	T	C86706708T	LDB3	NM_007078.3(LDB3):c.1074C>T:p.Ala358=	coding	Benign
10	86709830	G	T	G86709830T	LDB3	NM_007078.3(LDB3):c.1086-75G>T	noncoding	Benign
10	86709986	C	T	C86709986T	LDB3	NM_007078.3(LDB3):c.1167C>T:p.Ala389=	coding	Benign/Likely_benign
10	86710069	G	A	G86710069A	LDB3	NM_007078.3(LDB3):c.1231+19G>A	noncoding	Benign
10	86710080	C	G	C86710080G	LDB3	NM_007078.3(LDB3):c.1231+30C>G	noncoding	Benign/Likely_benign
10	86716049	G	A	G86716049A	LDB3	NM_007078.3(LDB3):c.1232-278G>A	noncoding	Benign
10	86716227	G	A	G86716227A	LDB3	NM_007078.3(LDB3):c.1232-100G>A	noncoding	Benign
10	86716231	A	C	A86716231C	LDB3	NM_007078.3(LDB3):c.1232-96A>C	noncoding	Benign
10	86716358	G	A	G86716358A	LDB3	NM_007078.3(LDB3):c.1263G>A:p.Gly421=	coding	Benign
10	86716389	T	C	T86716389C	LDB3	NM_007078.3(LDB3):c.1294T>C:p.Ser432Pro	coding	Benign
10	86716394	T	C	T86716394C	LDB3	NM_007078.3(LDB3):c.1299T>C:p.Pro433=	coding	Benign
10	86716395	G	C	G86716395C	LDB3	NM_007078.3(LDB3):c.1300G>C:p.Ala434Pro	coding	Benign
10	86716420	C	T	C86716420T	LDB3	NM_007078.3(LDB3):c.1325C>T:p.Ala442Val	coding	Benign
10	86716425	G	A	G86716425A	LDB3	NM_007078.3(LDB3):c.1330G>A:p.Ala444Thr	coding	Benign
10	86716430	C	T	C86716430T	LDB3	NM_007078.3(LDB3):c.1335C>T:p.Tyr445=	coding	Benign/Likely_benign
10	86716481	C	T	C86716481T	LDB3	NM_007078.3(LDB3):c.1386C>T:p.Thr462=	coding	Benign
10	86716499	C	T	C86716499T	LDB3	NM_007078.3(LDB3):c.1404C>T:p.Asn468=	coding	Benign
10	86716517	G	A	G86716517A	LDB3	NM_007078.3(LDB3):c.1422G>A:p.Ser474=	coding	Benign/Likely_benign
10	86716555	G	A	G86716555A	LDB3	NM_007078.3(LDB3):c.1460G>A:p.Arg487His	coding	Benign/Likely_benign
10	86716601	G	A	G86716601A	LDB3	NM_007078.3(LDB3):c.1506G>A:p.Pro502=	coding	Benign
10	86717021	G	A	G86717021A	LDB3	NM_007078.3(LDB3):c.1676+250G>A	noncoding	Benign
10	86717767	G	A	G86717767A	LDB3	NM_007078.3(LDB3):c.1677-197G>A	noncoding	Benign
10	86718772	G	A	G86718772A	LDB3	NM_007078.3(LDB3):c.1903G>A:p.Val635Ile	coding	Benign
10	86718825	C	T	C86718825T	LDB3	NM_007078.3(LDB3):c.1956C>T:p.Asp652=	coding	Benign/Likely_benign
10	86719022	G	A	G86719022A	LDB3	NM_007078.3(LDB3):c.1978+175G>A	noncoding	Benign
10	86719131	G	T	G86719131T	LDB3	NM_007078.3(LDB3):c.1978+284G>T	noncoding	Benign
10	86725963	T	G	T86725963G	LDB3	NM_007078.3(LDB3):c.1979-174T>G	noncoding	Benign
10	86726174	C	T	C86726174T	LDB3	NM_007078.3(LDB3):c.2016C>T:p.Cys672=	coding	Benign/Likely_benign
10	86732592	C	G	C86732592G	LDB3	NM_007078.3(LDB3):c.2095-295C>G	noncoding	Benign
10	86732605	G	A	G86732605A	LDB3	NM_007078.3(LDB3):c.2095-282G>A	noncoding	Benign
10	86732652	G	C	G86732652C	LDB3	NM_007078.3(LDB3):c.2095-235G>C	noncoding	Benign
10	86756838	T	C	T86756838C	BMPR1A	NM_004329.2(BMPR1A):c.-349T>C	noncoding	Benign
10	86875994	A	G	A86875994G	BMPR1A	NM_004329.2(BMPR1A):c.-25A>G	noncoding	Benign
10	86876019	A	C	A86876019C	BMPR1A	NM_004329.2(BMPR1A):c.1A>C:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
10	86876019	A	G	A86876019G	BMPR1A	NM_004329.2(BMPR1A):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
10	86876021	G	A	G86876021A	BMPR1A	NM_004329.3(BMPR1A):c.3G>A:p.Met1Ile	coding	Pathogenic
10	86876021	G	C	G86876021C	BMPR1A	NM_004329.2(BMPR1A):c.3G>C:p.Met1Ile	coding	Pathogenic
10	86876022	C	A	C86876022A	BMPR1A	NM_004329.2(BMPR1A):c.4C>A:p.Pro2Thr	coding	Benign
10	86876033	C	A	C86876033A	BMPR1A	NM_004329.2(BMPR1A):c.15C>A:p.Tyr5Ter	coding	Pathogenic
10	86876082	C	T	C86876082T	BMPR1A	NM_004329.2(BMPR1A):c.64C>T:p.Gln22Ter	coding	Pathogenic
10	86889950	A	G	A86889950G	BMPR1A	NM_004329.2(BMPR1A):c.68-112A>G	noncoding	Benign
10	86890133	G	T	G86890133T	BMPR1A	NM_004329.2(BMPR1A):c.139G>T:p.Gly47Ter	coding	Pathogenic
10	86890170	T	A	T86890170A	BMPR1A	NM_004329.2(BMPR1A):c.176T>A:p.Leu59Ter	coding	Pathogenic/Likely_pathogenic
10	86890183	C	A	C86890183A	BMPR1A	NM_004329.2(BMPR1A):c.189C>A:p.Cys63Ter	coding	Pathogenic
10	86892142	C	A	C86892142A	BMPR1A	NM_004329.2(BMPR1A):c.246C>A:p.Cys82Ter	coding	Pathogenic
10	86892158	G	T	G86892158T	BMPR1A	NM_004329.2(BMPR1A):c.262G>T:p.Glu88Ter	coding	Pathogenic
10	86892167	C	T	C86892167T	BMPR1A	NM_004329.2(BMPR1A):c.271C>T:p.Gln91Ter	coding	Pathogenic
10	86892205	T	G	T86892205G	BMPR1A	NM_004329.2(BMPR1A):c.309T>G:p.Tyr103Ter	coding	Pathogenic
10	86899833	T	G	T86899833G	BMPR1A	NM_004329.2(BMPR1A):c.373T>G:p.Cys125Gly	coding	Pathogenic
10	86899848	T	C	T86899848C	BMPR1A	NM_004329.2(BMPR1A):c.388T>C:p.Cys130Arg	coding	Pathogenic
10	86899891	G	A	G86899891A	BMPR1A	NM_004329.3(BMPR1A):c.430+1G>A	coding	Pathogenic
10	86900001	T	A	T86900001A	BMPR1A	NM_004329.2(BMPR1A):c.431-26T>A	noncoding	Benign
10	86900031	G	A	G86900031A	BMPR1A	NM_004329.2(BMPR1A):c.435G>A:p.Pro145=	coding	Benign
10	86900050	C	T	C86900050T	BMPR1A	NM_004329.2(BMPR1A):c.454C>T:p.Arg152Ter	coding	Pathogenic
10	86900054	G	A	G86900054A	BMPR1A	NM_004329.2(BMPR1A):c.458G>A:p.Trp153Ter	coding	Pathogenic
10	86900139	T	G	T86900139G	BMPR1A	NM_004329.2(BMPR1A):c.530+13T>G	noncoding	Benign/Likely_benign
10	86912260	C	G	C86912260G	BMPR1A	NM_004329.2(BMPR1A):c.551C>G:p.Ser184Ter	coding	Pathogenic
10	86912276	C	A	C86912276A	BMPR1A	NM_004329.2(BMPR1A):c.567C>A:p.Tyr189Ter	coding	Pathogenic
10	86912292	C	T	C86912292T	BMPR1A	NM_004329.3(BMPR1A):c.583C>T:p.Gln195Ter	coding	Pathogenic
10	86912327	A	G	A86912327G	BMPR1A	NM_004329.2(BMPR1A):c.618A>G:p.Leu206=	coding	Benign/Likely_benign
10	86912396	G	A	G86912396A	BMPR1A	NM_004329.2(BMPR1A):c.675+12G>A	noncoding	Benign
10	86917129	T	C	T86917129C	BMPR1A	NM_004329.2(BMPR1A):c.676-5T>C	noncoding	Benign/Likely_benign
10	86917140	C	A	C86917140A	BMPR1A	NM_004329.2(BMPR1A):c.682C>A:p.Arg228=	coding	Benign/Likely_benign
10	86917140	C	T	C86917140T	BMPR1A	NM_004329.2(BMPR1A):c.682C>T:p.Arg228Ter	coding	Pathogenic
10	86917155	C	T	C86917155T	BMPR1A	NM_004329.2(BMPR1A):c.697C>T:p.Gln233Ter	coding	Pathogenic/Likely_pathogenic
10	86917173	C	T	C86917173T	BMPR1A	NM_004329.2(BMPR1A):c.715C>T:p.Gln239Ter	coding	Pathogenic
10	86917188	C	T	C86917188T	BMPR1A	NM_004329.2(BMPR1A):c.730C>T:p.Arg244Ter	coding	Pathogenic
10	86917193	T	G	T86917193G	BMPR1A	NM_004329.2(BMPR1A):c.735T>G:p.Tyr245Ter	coding	Pathogenic
10	86917235	G	A	G86917235A	BMPR1A	NM_004329.2(BMPR1A):c.777G>A:p.Ala259=	coding	Benign/Likely_benign
10	86917270	G	A	G86917270A	BMPR1A	NM_004329.2(BMPR1A):c.812G>A:p.Trp271Ter	coding	Pathogenic
10	86917271	G	A	G86917271A	BMPR1A	NM_004329.2(BMPR1A):c.813G>A:p.Trp271Ter	coding	Pathogenic
10	86917275	C	T	C86917275T	BMPR1A	NM_004329.2(BMPR1A):c.817C>T:p.Arg273Ter	coding	Pathogenic
10	86917292	C	A	C86917292A	BMPR1A	NM_004329.2(BMPR1A):c.834C>A:p.Tyr278Ter	coding	Pathogenic
10	86917292	C	G	C86917292G	BMPR1A	NM_004329.3(BMPR1A):c.834C>G:p.Tyr278Ter	coding	Pathogenic
10	86917461	C	G	C86917461G	BMPR1A	NM_004329.2(BMPR1A):c.868+135C>G	noncoding	Benign
10	86919050	C	T	C86919050T	BMPR1A	NM_004329.2(BMPR1A):c.869-122C>T	noncoding	Benign
10	86919208	G	A	G86919208A	BMPR1A	NM_004329.3(BMPR1A):c.905G>A:p.Trp302Ter	coding	Pathogenic
10	86919213	C	T	C86919213T	BMPR1A	NM_004329.2(BMPR1A):c.910C>T:p.Gln304Ter	coding	Pathogenic
10	86919264	C	T	C86919264T	BMPR1A	NM_004329.2(BMPR1A):c.961C>T:p.Leu321=	coding	Benign/Likely_benign
10	86919267	A	T	A86919267T	BMPR1A	NM_004329.2(BMPR1A):c.964A>T:p.Lys322Ter	coding	Pathogenic
10	86919313	C	A	C86919313A	BMPR1A	NM_004329.2(BMPR1A):c.1010C>A:p.Ser337Ter	coding	Pathogenic
10	86919384	C	T	C86919384T	BMPR1A	NM_004329.2(BMPR1A):c.1081C>T:p.Arg361Ter	coding	Pathogenic
10	86919417	A	T	A86919417T	BMPR1A	NM_004329.3(BMPR1A):c.1114A>T:p.Lys372Ter	coding	Pathogenic
10	86919430	G	A	G86919430A	BMPR1A	NM_004329.2(BMPR1A):c.1127G>A:p.Cys376Tyr	coding	Pathogenic
10	86919443	C	T	C86919443T	BMPR1A	NM_004329.2(BMPR1A):c.1140C>T:p.Asp380=	coding	Benign
10	86921241	T	G	T86921241G	BMPR1A	NM_004329.2(BMPR1A):c.1167-279T>G	noncoding	Benign
10	86921544	C	G	C86921544G	BMPR1A	NM_004329.2(BMPR1A):c.1191C>G:p.Pro397=	coding	Benign/Likely_benign
10	86921574	C	G	C86921574G	BMPR1A	NM_004329.2(BMPR1A):c.1221C>G:p.Tyr407Ter	coding	Pathogenic/Likely_pathogenic
10	86921652	C	T	C86921652T	BMPR1A	NM_004329.2(BMPR1A):c.1299C>T:p.Phe433=	coding	Benign
10	86921667	G	A	G86921667A	BMPR1A	NM_004329.2(BMPR1A):c.1314G>A:p.Trp438Ter	coding	Pathogenic
10	86921701	A	G	A86921701G	BMPR1A	NM_004329.2(BMPR1A):c.1342+6A>G	noncoding	Benign
10	86923365	T	C	T86923365C	BMPR1A	NM_004329.2(BMPR1A):c.1343-11T>C	noncoding	Benign
10	86923393	C	T	C86923393T	BMPR1A	NM_004329.2(BMPR1A):c.1360C>T:p.Gln454Ter	coding	Pathogenic
10	86923407	C	A	C86923407A	BMPR1A	NM_004329.2(BMPR1A):c.1374C>A:p.Tyr458Ter	coding	Pathogenic
10	86923428	G	C	G86923428C	BMPR1A	NM_004329.2(BMPR1A):c.1395G>C:p.Pro465=	coding	Benign/Likely_benign
10	86923431	A	C	A86923431C	BMPR1A	NM_004329.2(BMPR1A):c.1398A>C:p.Ser466=	coding	Benign/Likely_benign
10	86923434	C	A	C86923434A	BMPR1A	NM_004329.2(BMPR1A):c.1401C>A:p.Tyr467Ter	coding	Pathogenic
10	86923452	T	G	T86923452G	BMPR1A	NM_004329.2(BMPR1A):c.1419T>G:p.Val473=	coding	Benign/Likely_benign
10	86923493	G	A	G86923493A	BMPR1A	NM_004329.2(BMPR1A):c.1460G>A:p.Trp487Ter	coding	Pathogenic
10	86923584	T	C	T86923584C	BMPR1A	NM_004329.2(BMPR1A):c.1474-10T>C	noncoding	Benign/Likely_benign
10	86923600	C	T	C86923600T	BMPR1A	NM_004329.2(BMPR1A):c.1480C>T:p.Arg494Ter	coding	Pathogenic/Likely_pathogenic
10	86923631	G	A	G86923631A	BMPR1A	NM_004329.2(BMPR1A):c.1511G>A:p.Trp504Ter	coding	Pathogenic
10	86923656	C	T	C86923656T	BMPR1A	NM_004329.2(BMPR1A):c.1536C>T:p.Leu512=	coding	Benign/Likely_benign
10	86923680	G	A	G86923680A	BMPR1A	NM_004329.2(BMPR1A):c.1560G>A:p.Thr520=	coding	Benign/Likely_benign
10	86923766	T	A	T86923766A	BMPR1A	NM_004329.2(BMPR1A):c.*47T>A	noncoding	Benign
10	86924141	C	T	C86924141T	BMPR1A	NM_004329.2(BMPR1A):c.*422C>T	noncoding	Benign
10	86924261	G	T	G86924261T	BMPR1A	NM_004329.2(BMPR1A):c.*542G>T	noncoding	Benign
10	86924373	A	G	A86924373G	BMPR1A	NM_004329.3(BMPR1A):c.*654A>G	noncoding	Benign
10	86924943	A	G	A86924943G	BMPR1A	NM_004329.2(BMPR1A):c.*1224A>G	noncoding	Benign
10	86925061	G	C	G86925061C	BMPR1A	NM_004329.2(BMPR1A):c.*1342G>C	noncoding	Benign
10	86942867	C	A	C86942867A	MMRN2	NM_024756.2(MMRN2):c.1917G>T:p.Val639=	coding	Benign
10	86958727	C	A	C86958727A	SNCG	NM_003087.3(SNCG):c.30C>A:p.Ile10=	coding	Benign
10	86960116	G	A	G86960116A	SNCG	NM_003087.3(SNCG):c.279G>A:p.Gly93=	coding	Benign
10	87053380	G	A	G87053380A	GLUD1	NM_005271.5(GLUD1):c.1519C>T:p.His507Tyr	coding	Pathogenic
10	87053398	A	G	A87053398G	GLUD1	NM_005271.5(GLUD1):c.1501T>C:p.Ser501Pro	coding	Pathogenic
10	87053403	C	A	C87053403A	GLUD1	NM_005271.5(GLUD1):c.1496G>T:p.Gly499Val	coding	Pathogenic
10	87053403	C	T	C87053403T	GLUD1	NM_005271.5(GLUD1):c.1496G>A:p.Gly499Asp	coding	Pathogenic
10	87057692	G	A	G87057692A	GLUD1	NM_005271.5(GLUD1):c.1493C>T:p.Ser498Leu	coding	Pathogenic
10	87057715	C	T	C87057715T	GLUD1	NM_005271.5(GLUD1):c.1470G>A:p.Thr490=	coding	Benign/Likely_benign
10	87060835	A	T	A87060835T	GLUD1	NM_005271.5(GLUD1):c.1060-10T>A	noncoding	Benign
10	87060928	T	G	T87060928G	GLUD1	NM_005271.5(GLUD1):c.1046A>C:p.Glu349Ala	coding	Pathogenic
10	87061009	C	T	C87061009T	GLUD1	NM_005271.5(GLUD1):c.965G>A:p.Arg322His	coding	Pathogenic
10	87061018	T	C	T87061018C	GLUD1	NM_005271.5(GLUD1):c.956A>G:p.Tyr319Cys	coding	Pathogenic
10	87061021	C	T	C87061021T	GLUD1	NM_005271.5(GLUD1):c.953G>A:p.Arg318Lys	coding	Pathogenic
10	87061032	T	C	T87061032C	GLUD1	NM_005271.5(GLUD1):c.942A>G:p.Leu314=	coding	Benign
10	87062668	T	G	T87062668G	GLUD1	NM_005271.5(GLUD1):c.909A>C:p.Thr303=	coding	Benign
10	87062757	G	A	G87062757A	GLUD1	NM_005271.5(GLUD1):c.820C>T:p.Arg274Cys	coding	Pathogenic
10	87068162	G	C	G87068162C	GLUD1	NM_005271.5(GLUD1):c.647-5C>G	noncoding	Benign
10	87074567	T	C	T87074567C	GLUD1	NM_005271.5(GLUD1):c.630A>G:p.Ala210=	coding	Benign/Likely_benign
10	87074612	A	G	A87074612G	GLUD1	NM_005271.5(GLUD1):c.585T>C:p.Asp195=	coding	Benign/Likely_benign
10	87094377	G	C	G87094377C	GLUD1	NM_005271.5(GLUD1):c.393C>G:p.Val131=	coding	Benign/Likely_benign
10	87094394	C	T	C87094394T	GLUD1	NM_005271.5(GLUD1):c.376G>A:p.Asp126Asn	coding	Benign/Likely_benign
10	87094428	A	G	A87094428G	GLUD1	NM_005271.5(GLUD1):c.342T>C:p.His114=	coding	Benign
10	87094666	C	T	C87094666T	GLUD1	NM_005271.5(GLUD1):c.104G>A:p.Gly35Glu	coding	Benign/Likely_benign
10	87152168	A	G	A87152168G	SHLD2	NM_001330112.2(SHLD2):c.814A>G:p.Met272Val	coding	Benign
10	87505037	C	T	C87505037T	MINPP1	NM_004897.5(MINPP1):c.122C>T:p.Ser41Leu	coding	Pathogenic
10	87508507	A	G	A87508507G	MINPP1	NM_004897.5(MINPP1):c.809A>G:p.Gln270Arg	coding	Pathogenic
10	87552184	A	G	A87552184G	MINPP1	NM_004897.5(MINPP1):c.1170A>G:p.Leu390=	coding	Benign
10	87552289	T	C	T87552289C	MINPP1	NM_004897.5(MINPP1):c.1275T>C:p.Ala425=	coding	Benign
10	87709196	G	A	G87709196A	PAPSS2	NM_001015880.2(PAPSS2):c.28G>A:p.Glu10Lys	coding	Benign
10	87709289	C	T	C87709289T	PAPSS2	NM_001015880.2(PAPSS2):c.121C>T:p.Arg41Ter	coding	Pathogenic
10	87709311	C	G	C87709311G	PAPSS2	NM_001015880.2(PAPSS2):c.143C>G:p.Thr48Arg	coding	Pathogenic
10	87713196	C	T	C87713196T	PAPSS2	NM_001015880.2(PAPSS2):c.267C>T:p.Leu89=	coding	Benign
10	87713205	T	C	T87713205C	PAPSS2	NM_001015880.2(PAPSS2):c.276T>C:p.Ser92=	coding	Benign
10	87713304	C	T	C87713304T	PAPSS2	NM_001015880.2(PAPSS2):c.375C>T:p.Phe125=	coding	Benign/Likely_benign
10	87714139	C	T	C87714139T	PAPSS2	NM_001015880.2(PAPSS2):c.477C>T:p.Asp159=	coding	Benign
10	87714864	G	T	G87714864T	PAPSS2	NM_001015880.2(PAPSS2):c.639+1G>T	coding	Pathogenic
10	87715102	A	C	A87715102C	PAPSS2	NM_001015880.2(PAPSS2):c.753+4A>C	noncoding	Benign
10	87715819	A	T	A87715819T	PAPSS2	NM_001015880.2(PAPSS2):c.841A>T:p.Met281Leu	coding	Benign
10	87715839	A	G	A87715839G	PAPSS2	NM_001015880.2(PAPSS2):c.861A>G:p.Leu287=	coding	Benign
10	87727289	G	A	G87727289A	PAPSS2	NM_001015880.2(PAPSS2):c.886G>A:p.Val296Met	coding	Benign
10	87727403	C	T	C87727403T	PAPSS2	NM_001015880.2(PAPSS2):c.1000C>T:p.Arg334Ter	coding	Pathogenic
10	87743553	C	T	C87743553T	PAPSS2	NM_001015880.2(PAPSS2):c.1403C>T:p.Ala468Val	coding	Benign
10	87743589	C	A	C87743589A	PAPSS2	NM_001015880.2(PAPSS2):c.1439C>A:p.Ser480Ter	coding	Pathogenic
10	87767678	C	A	C87767678A	ATAD1	NM_032810.3(ATAD1):c.826G>T:p.Glu276Ter	coding	Pathogenic
10	87863158	T	C	T87863158C	PTEN	NM_001126049.2(KLLN):c.-671A>G	noncoding	Benign
10	87863384	T	C	T87863384C	PTEN	NM_001126049.2(KLLN):c.-897A>G	noncoding	Benign
10	87863409	C	G	C87863409G	PTEN	NM_001126049.2(KLLN):c.-922G>C	noncoding	Benign/Likely_benign
10	87863410	C	G	C87863410G	PTEN	NM_000314.6(PTEN):c.-1059C>G	noncoding	Benign
10	87863411	C	G	C87863411G	PTEN	NM_001126049.2(KLLN):c.-924G>C	noncoding	Benign
10	87863442	C	A	C87863442A	PTEN	NM_001126049.2(KLLN):c.-955G>T	noncoding	Benign/Likely_benign
10	87863566	G	A	G87863566A	PTEN	NM_000314.6(PTEN):c.-903G>A	noncoding	Benign
10	87863958	G	A	G87863958A	PTEN	NM_000314.7(PTEN):c.-511G>A	coding	Benign
10	87863959	G	A	G87863959A	PTEN	NM_000314.8(PTEN):c.-511G>A	coding	Benign
10	87864144	G	C	G87864144C	PTEN	NM_000314.7(PTEN):c.-326=	coding	Benign
10	87864186	C	T	C87864186T	PTEN	NM_000314.7(PTEN):c.-284C>T	coding	Benign
10	87864305	C	G	C87864305G	PTEN	NM_000314.7(PTEN):c.-165C>G	coding	Benign
10	87864318	A	G	A87864318G	PTEN	NM_000314.7(PTEN):c.-152A>G	coding	Benign
10	87864461	C	G	C87864461G	PTEN	NM_000314.7(PTEN):c.-9C>G	coding	Benign
10	87864470	A	G	A87864470G	PTEN	NM_000314.7(PTEN):c.1A>G:p.Met1Val	coding	Pathogenic
10	87864504	A	C	A87864504C	PTEN	NM_000314.7(PTEN):c.35A>C:p.Asn12Thr	coding	Pathogenic
10	87864506	A	T	A87864506T	PTEN	NM_000314.7(PTEN):c.37A>T:p.Lys13Ter	coding	Pathogenic
10	87864509	A	G	A87864509G	PTEN	NM_000314.7(PTEN):c.40A>G:p.Arg14Gly	coding	Pathogenic/Likely_pathogenic
10	87864514	A	C	A87864514C	PTEN	NM_000314.7(PTEN):c.45A>C:p.Arg15Ser	coding	Pathogenic/Likely_pathogenic
10	87864514	A	T	A87864514T	PTEN	NM_000314.7(PTEN):c.45A>T:p.Arg15Ser	coding	Pathogenic/Likely_pathogenic
10	87864517	T	A	T87864517A	PTEN	NM_000314.7(PTEN):c.48T>A:p.Tyr16Ter	coding	Pathogenic
10	87864517	T	G	T87864517G	PTEN	NM_000314.7(PTEN):c.48T>G:p.Tyr16Ter	coding	Pathogenic
10	87864518	C	T	C87864518T	PTEN	NM_000314.7(PTEN):c.49C>T:p.Gln17Ter	coding	Pathogenic
10	87864537	T	G	T87864537G	PTEN	NM_000314.8(PTEN):c.68T>G:p.Leu23Ter	coding	Pathogenic
10	87864539	G	C	G87864539C	PTEN	NM_000314.7(PTEN):c.70G>C:p.Asp24His	coding	Pathogenic
10	87864539	G	T	G87864539T	PTEN	NM_000314.7(PTEN):c.70G>T:p.Asp24Tyr	coding	Pathogenic
10	87864540	A	G	A87864540G	PTEN	NM_000314.7(PTEN):c.71A>G:p.Asp24Gly	coding	Pathogenic/Likely_pathogenic
10	87864583	C	T	C87864583T	PTEN	NM_000314.7(PTEN):c.79+35C>T	noncoding	Benign
10	87868777	A	T	A87868777T	PTEN	NM_000314.8(PTEN):c.79+4229A>T	noncoding	Benign
10	87893929	A	G	A87893929G	PTEN	NM_000314.7(PTEN):c.80-96A>G	noncoding	Benign
10	87894025	A	C	A87894025C	PTEN	NM_000314.7(PTEN):c.80A>C:p.Tyr27Ser	coding	Pathogenic
10	87894032	T	A	T87894032A	PTEN	NM_000314.7(PTEN):c.87T>A:p.Tyr29Ter	coding	Pathogenic
10	87894049	T	G	T87894049G	PTEN	NM_001304718.2(PTEN):c.-602T>G	coding	Pathogenic
10	87894051	G	C	G87894051C	PTEN	NM_000314.7(PTEN):c.106G>C:p.Gly36Arg	coding	Pathogenic
10	87894063	G	T	G87894063T	PTEN	NM_000314.7(PTEN):c.118G>T:p.Glu40Ter	coding	Pathogenic
10	87894072	G	T	G87894072T	PTEN	NM_000314.7(PTEN):c.127G>T:p.Glu43Ter	coding	Pathogenic
10	87894076	G	A	G87894076A	PTEN	NM_000314.7(PTEN):c.131G>A:p.Gly44Asp	coding	Pathogenic
10	87894083	C	A	C87894083A	PTEN	NM_000314.7(PTEN):c.138C>A:p.Tyr46Ter	coding	Pathogenic
10	87894084	A	G	A87894084G	PTEN	NM_000314.7(PTEN):c.139A>G:p.Arg47Gly	coding	Pathogenic/Likely_pathogenic
10	87894089	C	A	C87894089A	PTEN	NM_000314.7(PTEN):c.144C>A:p.Asn48Lys	coding	Pathogenic/Likely_pathogenic
10	87894110	G	A	G87894110A	PTEN	NM_000314.8(PTEN):c.164+1G>A	coding	Pathogenic
10	87894110	G	C	G87894110C	PTEN	NM_000314.7(PTEN):c.164+1G>C	coding	Pathogenic
10	87894110	G	T	G87894110T	PTEN	NM_000314.7(PTEN):c.164+1G>T	coding	Pathogenic
10	87894111	T	G	T87894111G	PTEN	NM_000314.8(PTEN):c.164+2T>G	noncoding	Pathogenic
10	87925511	A	G	A87925511G	PTEN	NM_000314.7(PTEN):c.165-2A>G	noncoding	Pathogenic
10	87925512	G	C	G87925512C	PTEN	NM_000314.7(PTEN):c.165-1G>C	noncoding	Pathogenic
10	87925518	T	A	T87925518A	PTEN	NM_000314.7(PTEN):c.170T>A:p.Leu57Ter	coding	Pathogenic
10	87925524	C	A	C87925524A	PTEN	NM_000314.8(PTEN):c.176C>A:p.Ser59Ter	coding	Pathogenic
10	87925524	C	G	C87925524G	PTEN	NM_000314.7(PTEN):c.176C>G:p.Ser59Ter	coding	Pathogenic
10	87925530	A	G	A87925530G	PTEN	NM_000314.7(PTEN):c.182A>G:p.His61Arg	coding	Pathogenic/Likely_pathogenic
10	87925543	C	A	C87925543A	PTEN	NM_000314.7(PTEN):c.195C>A:p.Tyr65Ter	coding	Pathogenic
10	87925543	C	G	C87925543G	PTEN	NM_000314.7(PTEN):c.195C>G:p.Tyr65Ter	coding	Pathogenic
10	87925544	A	T	A87925544T	PTEN	NM_000314.7(PTEN):c.196A>T:p.Lys66Ter	coding	Pathogenic
10	87925550	T	C	T87925550C	PTEN	NM_000314.7(PTEN):c.202T>C:p.Tyr68His	coding	Pathogenic/Likely_pathogenic
10	87925551	A	G	A87925551G	PTEN	NM_000314.7(PTEN):c.203A>G:p.Tyr68Cys	coding	Pathogenic
10	87925552	C	G	C87925552G	PTEN	NM_000314.7(PTEN):c.204C>G:p.Tyr68Ter	coding	Pathogenic
10	87925558	G	A	G87925558A	PTEN	NM_000314.7(PTEN):c.209+1G>A	coding	Pathogenic
10	87925558	G	T	G87925558T	PTEN	NM_000314.7(PTEN):c.209+1G>T	coding	Pathogenic/Likely_pathogenic
10	87925559	T	C	T87925559C	PTEN	NM_000314.8(PTEN):c.209+2T>C	noncoding	Pathogenic/Likely_pathogenic
10	87925562	G	A	G87925562A	PTEN	NM_000314.7(PTEN):c.209+5G>A	noncoding	Pathogenic
10	87931007	A	G	A87931007G	PTEN	NM_000314.7(PTEN):c.210-39A>G	noncoding	Benign/Likely_benign
10	87931037	T	C	T87931037C	PTEN	NM_000314.7(PTEN):c.210-9T>C	noncoding	Benign/Likely_benign
10	87931044	A	C	A87931044C	PTEN	NM_000314.8(PTEN):c.210-2A>C	noncoding	Pathogenic/Likely_pathogenic
10	87931045	G	A	G87931045A	PTEN	NM_000314.7(PTEN):c.210-1G>A	noncoding	Pathogenic
10	87931056	A	T	A87931056T	PTEN	NM_000314.7(PTEN):c.220A>T:p.Arg74Ter	coding	Pathogenic
10	87931064	T	G	T87931064G	PTEN	NM_000314.7(PTEN):c.228T>G:p.Tyr76Ter	coding	Pathogenic
10	87931070	C	T	C87931070T	PTEN	NM_000314.8(PTEN):c.234C>T:p.Thr78=	coding	Benign/Likely_benign
10	87931085	C	A	C87931085A	PTEN	NM_000314.8(PTEN):c.249C>A:p.Cys83Ter	coding	Pathogenic
10	87931090	G	A	G87931090A	PTEN	NM_000314.7(PTEN):c.253+1G>A	coding	Pathogenic/Likely_pathogenic
10	87931090	G	C	G87931090C	PTEN	NM_000314.7(PTEN):c.253+1G>C	coding	Pathogenic
10	87931090	G	T	G87931090T	PTEN	NM_000314.7(PTEN):c.253+1G>T	coding	Pathogenic
10	87931091	T	A	T87931091A	PTEN	NM_000314.7(PTEN):c.253+2T>A	noncoding	Pathogenic/Likely_pathogenic
10	87931094	G	T	G87931094T	PTEN	NM_000314.7(PTEN):c.253+5G>T	noncoding	Pathogenic
10	87931155	A	G	A87931155G	PTEN	NM_000314.7(PTEN):c.253+66A>G	noncoding	Benign
10	87932697	T	C	T87932697C	PTEN	NM_000314.7(PTEN):c.254-316T>C	noncoding	Benign
10	87932984	C	T	C87932984T	PTEN	NM_000314.8(PTEN):c.254-29C>T	noncoding	Benign
10	87932987	A	T	A87932987T	PTEN	NM_000314.8(PTEN):c.254-26A>T	noncoding	Benign
10	87932990	C	T	C87932990T	PTEN	NM_000314.8(PTEN):c.254-23C>T	noncoding	Benign
10	87933011	A	G	A87933011G	PTEN	NM_000314.7(PTEN):c.254-2A>G	noncoding	Pathogenic
10	87933012	G	A	G87933012A	PTEN	NM_000314.7(PTEN):c.254-1G>A	noncoding	Pathogenic/Likely_pathogenic
10	87933018	C	T	C87933018T	PTEN	NM_000314.7(PTEN):c.259C>T:p.Gln87Ter	coding	Pathogenic
10	87933023	T	A	T87933023A	PTEN	NM_000314.7(PTEN):c.264T>A:p.Tyr88Ter	coding	Pathogenic
10	87933037	A	G	A87933037G	PTEN	NM_000314.7(PTEN):c.278A>G:p.His93Arg	coding	Pathogenic
10	87933043	C	T	C87933043T	PTEN	NM_000314.7(PTEN):c.284C>T:p.Pro95Leu	coding	Pathogenic
10	87933045	C	G	C87933045G	PTEN	NM_000314.7(PTEN):c.286C>G:p.Pro96Ala	coding	Pathogenic
10	87933045	C	T	C87933045T	PTEN	NM_000314.7(PTEN):c.286C>T:p.Pro96Ser	coding	Pathogenic
10	87933048	C	T	C87933048T	PTEN	NM_000314.7(PTEN):c.289C>T:p.Gln97Ter	coding	Pathogenic
10	87933061	T	C	T87933061C	PTEN	NM_000314.8(PTEN):c.302T>C:p.Ile101Thr	coding	Pathogenic/Likely_pathogenic
10	87933075	G	T	G87933075T	PTEN	NM_000314.7(PTEN):c.316G>T:p.Glu106Ter	coding	Pathogenic
10	87933079	A	T	A87933079T	PTEN	NM_000314.7(PTEN):c.320A>T:p.Asp107Val	coding	Pathogenic
10	87933080	T	C	T87933080C	PTEN	NM_000314.7(PTEN):c.321T>C:p.Asp107=	coding	Benign/Likely_benign
10	87933082	T	C	T87933082C	PTEN	NM_000314.7(PTEN):c.323T>C:p.Leu108Pro	coding	Pathogenic/Likely_pathogenic
10	87933087	C	T	C87933087T	PTEN	NM_000314.7(PTEN):c.328C>T:p.Gln110Ter	coding	Pathogenic
10	87933092	G	A	G87933092A	PTEN	NM_000314.7(PTEN):c.333G>A:p.Trp111Ter	coding	Pathogenic
10	87933094	T	C	T87933094C	PTEN	NM_000314.7(PTEN):c.335T>C:p.Leu112Pro	coding	Pathogenic
10	87933121	C	G	C87933121G	PTEN	NM_001304718.2(PTEN):c.-389C>G	coding	Pathogenic
10	87933126	C	G	C87933126G	PTEN	NM_000314.7(PTEN):c.367C>G:p.His123Asp	coding	Pathogenic
10	87933126	C	T	C87933126T	PTEN	NM_000314.7(PTEN):c.367C>T:p.His123Tyr	coding	Pathogenic/Likely_pathogenic
10	87933128	C	G	C87933128G	PTEN	NM_000314.7(PTEN):c.369C>G:p.His123Gln	coding	Pathogenic
10	87933129	T	C	T87933129C	PTEN	NM_000314.7(PTEN):c.370T>C:p.Cys124Arg	coding	Pathogenic
10	87933144	G	A	G87933144A	PTEN	NM_000314.7(PTEN):c.385G>A:p.Gly129Arg	coding	Pathogenic/Likely_pathogenic
10	87933144	G	C	G87933144C	PTEN	NM_000314.7(PTEN):c.385G>C:p.Gly129Arg	coding	Pathogenic
10	87933145	G	A	G87933145A	PTEN	NM_000314.7(PTEN):c.386G>A:p.Gly129Glu	coding	Pathogenic
10	87933147	C	G	C87933147G	PTEN	NM_001304718.2(PTEN):c.-363C>G	coding	Pathogenic
10	87933147	C	T	C87933147T	PTEN	NM_000314.7(PTEN):c.388C>T:p.Arg130Ter	coding	Pathogenic
10	87933148	G	A	G87933148A	PTEN	NM_000314.7(PTEN):c.389G>A:p.Arg130Gln	coding	Pathogenic
10	87933148	G	C	G87933148C	PTEN	NM_000314.7(PTEN):c.389G>C:p.Arg130Pro	coding	Pathogenic
10	87933148	G	T	G87933148T	PTEN	NM_000314.7(PTEN):c.389G>T:p.Arg130Leu	coding	Pathogenic/Likely_pathogenic
10	87933151	C	T	C87933151T	PTEN	NM_001304718.2(PTEN):c.-359C>T	coding	Pathogenic
10	87933154	G	T	G87933154T	PTEN	NM_000314.7(PTEN):c.395G>T:p.Gly132Val	coding	Pathogenic/Likely_pathogenic
10	87933160	T	C	T87933160C	PTEN	NM_000314.7(PTEN):c.401T>C:p.Met134Thr	coding	Pathogenic
10	87933162	A	G	A87933162G	PTEN	NM_000314.7(PTEN):c.403A>G:p.Ile135Val	coding	Pathogenic/Likely_pathogenic
10	87933165	T	C	T87933165C	PTEN	NM_000314.8(PTEN):c.406T>C:p.Cys136Arg	coding	Pathogenic
10	87933166	G	A	G87933166A	PTEN	NM_000314.7(PTEN):c.407G>A:p.Cys136Tyr	coding	Pathogenic
10	87933173	T	G	T87933173G	PTEN	NM_000314.7(PTEN):c.414T>G:p.Tyr138Ter	coding	Pathogenic
10	87933175	T	G	T87933175G	PTEN	NM_000314.7(PTEN):c.416T>G:p.Leu139Ter	coding	Pathogenic
10	87933189	A	T	A87933189T	PTEN	NM_000314.7(PTEN):c.430A>T:p.Lys144Ter	coding	Pathogenic/Likely_pathogenic
10	87933196	T	A	T87933196A	PTEN	NM_000314.7(PTEN):c.437T>A:p.Leu146Ter	coding	Pathogenic
10	87933196	T	G	T87933196G	PTEN	NM_000314.7(PTEN):c.437T>G:p.Leu146Ter	coding	Pathogenic
10	87933204	C	T	C87933204T	PTEN	NM_000314.7(PTEN):c.445C>T:p.Gln149Ter	coding	Pathogenic
10	87933207	G	T	G87933207T	PTEN	NM_000314.7(PTEN):c.448G>T:p.Glu150Ter	coding	Pathogenic
10	87933222	T	C	T87933222C	PTEN	NM_000314.7(PTEN):c.463T>C:p.Tyr155His	coding	Pathogenic
10	87933223	A	G	A87933223G	PTEN	NM_000314.8(PTEN):c.464A>G:p.Tyr155Cys	coding	Pathogenic
10	87933224	T	A	T87933224A	PTEN	NM_000314.7(PTEN):c.465T>A:p.Tyr155Ter	coding	Pathogenic
10	87933228	G	T	G87933228T	PTEN	NM_000314.7(PTEN):c.469G>T:p.Glu157Ter	coding	Pathogenic
10	87933253	T	C	T87933253C	PTEN	NM_000314.7(PTEN):c.492+2T>C	noncoding	Pathogenic
10	87933468	C	T	C87933468T	PTEN	NM_000314.7(PTEN):c.492+217C>T	noncoding	Benign
10	87933543	T	C	T87933543C	PTEN	NM_000314.7(PTEN):c.492+292T>C	noncoding	Benign
10	87940665	A	G	A87940665G	PTEN	NM_000314.8(PTEN):c.492+7414A>G	noncoding	Benign
10	87952076	A	G	A87952076G	PTEN	NM_000314.8(PTEN):c.493-42A>G	noncoding	Benign
10	87952116	A	G	A87952116G	PTEN	NM_000314.7(PTEN):c.493-2A>G	noncoding	Pathogenic
10	87952117	G	A	G87952117A	PTEN	NM_000314.7(PTEN):c.493-1G>A	noncoding	Pathogenic/Likely_pathogenic
10	87952117	G	C	G87952117C	PTEN	NM_000314.8(PTEN):c.493-1G>C	noncoding	Pathogenic
10	87952118	G	A	G87952118A	PTEN	NM_000314.7(PTEN):c.493G>A:p.Gly165Arg	coding	Pathogenic
10	87952118	G	T	G87952118T	PTEN	NM_000314.7(PTEN):c.493G>T:p.Gly165Ter	coding	Pathogenic
10	87952133	A	C	A87952133C	PTEN	NM_000314.7(PTEN):c.508A>C:p.Ser170Arg	coding	Pathogenic
10	87952134	G	T	G87952134T	PTEN	NM_000314.7(PTEN):c.509G>T:p.Ser170Ile	coding	Pathogenic
10	87952135	T	G	T87952135G	PTEN	NM_000314.8(PTEN):c.510T>G:p.Ser170Arg	coding	Pathogenic
10	87952136	C	T	C87952136T	PTEN	NM_000314.7(PTEN):c.511C>T:p.Gln171Ter	coding	Pathogenic
10	87952142	C	T	C87952142T	PTEN	NM_000314.7(PTEN):c.517C>T:p.Arg173Cys	coding	Pathogenic
10	87952143	G	A	G87952143A	PTEN	NM_000314.8(PTEN):c.518G>A:p.Arg173His	coding	Pathogenic/Likely_pathogenic
10	87952147	T	A	T87952147A	PTEN	NM_000314.7(PTEN):c.522T>A:p.Tyr174Ter	coding	Pathogenic
10	87952156	T	G	T87952156G	PTEN	NM_000314.7(PTEN):c.531T>G:p.Tyr177Ter	coding	Pathogenic
10	87952165	C	G	C87952165G	PTEN	NM_000314.7(PTEN):c.540C>G:p.Tyr180Ter	coding	Pathogenic
10	87952170	T	A	T87952170A	PTEN	NM_000314.7(PTEN):c.545T>A:p.Leu182Ter	coding	Pathogenic
10	87952170	T	G	T87952170G	PTEN	NM_000314.7(PTEN):c.545T>G:p.Leu182Ter	coding	Pathogenic
10	87952189	T	G	T87952189G	PTEN	NM_000314.8(PTEN):c.564T>G:p.Tyr188Ter	coding	Pathogenic
10	87952190	A	T	A87952190T	PTEN	NM_000314.7(PTEN):c.565A>T:p.Arg189Ter	coding	Pathogenic
10	87952230	C	T	C87952230T	PTEN	NM_000314.7(PTEN):c.605C>T:p.Thr202Ile	coding	Pathogenic
10	87952250	G	T	G87952250T	PTEN	NM_000314.7(PTEN):c.625G>T:p.Gly209Ter	coding	Pathogenic
10	87952258	C	A	C87952258A	PTEN	NM_000314.7(PTEN):c.633C>A:p.Cys211Ter	coding	Pathogenic
10	87952260	G	C	G87952260C	PTEN	NM_000314.7(PTEN):c.634+1G>C	coding	Pathogenic
10	87952261	T	C	T87952261C	PTEN	NM_000314.7(PTEN):c.634+2T>C	noncoding	Pathogenic
10	87952261	T	G	T87952261G	PTEN	NM_000314.7(PTEN):c.634+2T>G	noncoding	Pathogenic
10	87952263	A	T	A87952263T	PTEN	NM_000314.7(PTEN):c.634+4A>T	noncoding	Pathogenic
10	87952264	G	A	G87952264A	PTEN	NM_000314.7(PTEN):c.634+5G>A	noncoding	Pathogenic
10	87957851	A	G	A87957851G	PTEN	NM_000314.7(PTEN):c.635-2A>G	noncoding	Pathogenic
10	87957852	G	A	G87957852A	PTEN	NM_000314.7(PTEN):c.635-1G>A	noncoding	Pathogenic
10	87957852	G	C	G87957852C	PTEN	NM_000314.7(PTEN):c.635-1G>C	noncoding	Pathogenic
10	87957852	G	T	G87957852T	PTEN	NM_000314.7(PTEN):c.635-1G>T	noncoding	Pathogenic/Likely_pathogenic
10	87957858	C	T	C87957858T	PTEN	NM_000314.7(PTEN):c.640C>T:p.Gln214Ter	coding	Pathogenic
10	87957867	G	A	G87957867A	PTEN	NM_000314.7(PTEN):c.649G>A:p.Val217Ile	coding	Pathogenic
10	87957872	C	A	C87957872A	PTEN	NM_000314.7(PTEN):c.654C>A:p.Cys218Ter	coding	Pathogenic
10	87957885	A	T	A87957885T	PTEN	NM_000314.7(PTEN):c.667A>T:p.Lys223Ter	coding	Pathogenic
10	87957893	T	G	T87957893G	PTEN	NM_000314.7(PTEN):c.675T>G:p.Tyr225Ter	coding	Pathogenic
10	87957904	C	G	C87957904G	PTEN	NM_000314.8(PTEN):c.686C>G:p.Ser229Ter	coding	Pathogenic
10	87957915	C	T	C87957915T	PTEN	NM_000314.7(PTEN):c.697C>T:p.Arg233Ter	coding	Pathogenic
10	87957938	C	G	C87957938G	PTEN	NM_000314.7(PTEN):c.720C>G:p.Tyr240Ter	coding	Pathogenic
10	87957951	C	T	C87957951T	PTEN	NM_000314.7(PTEN):c.733C>T:p.Gln245Ter	coding	Pathogenic
10	87957955	C	T	C87957955T	PTEN	NM_000314.8(PTEN):c.737C>T:p.Pro246Leu	coding	Pathogenic
10	87957958	T	A	T87957958A	PTEN	NM_000314.7(PTEN):c.740T>A:p.Leu247Ter	coding	Pathogenic
10	87957958	T	G	T87957958G	PTEN	NM_000314.7(PTEN):c.740T>G:p.Leu247Ter	coding	Pathogenic
10	87957968	T	A	T87957968A	PTEN	NM_000314.7(PTEN):c.750T>A:p.Cys250Ter	coding	Pathogenic
10	87957984	G	T	G87957984T	PTEN	NM_000314.7(PTEN):c.766G>T:p.Glu256Ter	coding	Pathogenic
10	87957999	C	T	C87957999T	PTEN	NM_000314.7(PTEN):c.781C>T:p.Gln261Ter	coding	Pathogenic
10	87958014	A	T	A87958014T	PTEN	NM_000314.7(PTEN):c.796A>T:p.Lys266Ter	coding	Pathogenic
10	87958020	G	A	G87958020A	PTEN	NM_000314.7(PTEN):c.801+1G>A	coding	Pathogenic
10	87958020	G	C	G87958020C	PTEN	NM_000314.8(PTEN):c.801+1G>C	coding	Pathogenic
10	87958020	G	T	G87958020T	PTEN	NM_000314.8(PTEN):c.801+1G>T	coding	Pathogenic
10	87958021	T	A	T87958021A	PTEN	NM_000314.7(PTEN):c.801+2T>A	noncoding	Pathogenic
10	87960687	T	C	T87960687C	PTEN	NM_000314.7(PTEN):c.802-207T>C	noncoding	Benign
10	87960876	C	T	C87960876T	PTEN	NM_000314.7(PTEN):c.802-18C>T	noncoding	Benign
10	87960882	T	C	T87960882C	PTEN	NM_000314.7(PTEN):c.802-12T>C	noncoding	Benign/Likely_benign
10	87960892	A	G	A87960892G	PTEN	NM_000314.7(PTEN):c.802-2A>G	noncoding	Pathogenic/Likely_pathogenic
10	87960892	A	T	A87960892T	PTEN	NM_000314.7(PTEN):c.802-2A>T	noncoding	Pathogenic
10	87960893	G	A	G87960893A	PTEN	NM_000314.8(PTEN):c.802-1G>A	noncoding	Pathogenic/Likely_pathogenic
10	87960913	G	T	G87960913T	PTEN	NM_000314.7(PTEN):c.821G>T:p.Trp274Leu	coding	Pathogenic
10	87960914	G	A	G87960914A	PTEN	NM_000314.7(PTEN):c.822G>A:p.Trp274Ter	coding	Pathogenic
10	87960942	G	T	G87960942T	PTEN	NM_000314.7(PTEN):c.850G>T:p.Glu284Ter	coding	Pathogenic
10	87960947	A	G	A87960947G	PTEN	NM_000314.7(PTEN):c.855A>G:p.Glu285=	coding	Benign/Likely_benign
10	87960952	C	A	C87960952A	PTEN	NM_000314.7(PTEN):c.860C>A:p.Ser287Ter	coding	Pathogenic
10	87960952	C	G	C87960952G	PTEN	NM_000314.7(PTEN):c.860C>G:p.Ser287Ter	coding	Pathogenic/Likely_pathogenic
10	87960957	A	T	A87960957T	PTEN	NM_000314.7(PTEN):c.865A>T:p.Lys289Ter	coding	Pathogenic
10	87960969	G	T	G87960969T	PTEN	NM_000314.7(PTEN):c.877G>T:p.Gly293Ter	coding	Pathogenic
10	87960984	C	T	C87960984T	PTEN	NM_000314.7(PTEN):c.892C>T:p.Gln298Ter	coding	Pathogenic
10	87960987	G	T	G87960987T	PTEN	NM_000314.7(PTEN):c.895G>T:p.Glu299Ter	coding	Pathogenic
10	87961011	G	T	G87961011T	PTEN	NM_000314.7(PTEN):c.919G>T:p.Glu307Ter	coding	Pathogenic
10	87961032	G	T	G87961032T	PTEN	NM_000314.7(PTEN):c.940G>T:p.Glu314Ter	coding	Pathogenic
10	87961037	T	A	T87961037A	PTEN	NM_000314.7(PTEN):c.945T>A:p.Tyr315Ter	coding	Pathogenic
10	87961037	T	G	T87961037G	PTEN	NM_000314.7(PTEN):c.945T>G:p.Tyr315Ter	coding	Pathogenic
10	87961051	T	A	T87961051A	PTEN	NM_000314.7(PTEN):c.959T>A:p.Leu320Ter	coding	Pathogenic
10	87961051	T	G	T87961051G	PTEN	NM_000314.7(PTEN):c.959T>G:p.Leu320Ter	coding	Pathogenic
10	87961052	A	G	A87961052G	PTEN	NM_000314.7(PTEN):c.960A>G:p.Leu320=	coding	Benign
10	87961095	C	T	C87961095T	PTEN	NM_000314.8(PTEN):c.1003C>T:p.Arg335Ter	coding	Pathogenic
10	87961096	G	A	G87961096A	PTEN	NM_000314.7(PTEN):c.1004G>A:p.Arg335Gln	coding	Pathogenic
10	87961100	C	G	C87961100G	PTEN	NM_000314.7(PTEN):c.1008C>G:p.Tyr336Ter	coding	Pathogenic
10	87961119	G	A	G87961119A	PTEN	NM_000314.7(PTEN):c.1026+1G>A	coding	Pathogenic
10	87961119	G	C	G87961119C	PTEN	NM_000314.7(PTEN):c.1026+1G>C	coding	Pathogenic/Likely_pathogenic
10	87961119	G	T	G87961119T	PTEN	NM_000314.7(PTEN):c.1026+1G>T	coding	Pathogenic
10	87961120	T	G	T87961120G	PTEN	NM_000314.7(PTEN):c.1026+2T>G	noncoding	Pathogenic/Likely_pathogenic
10	87961150	T	G	T87961150G	PTEN	NM_000314.7(PTEN):c.1026+32T>G	noncoding	Benign
10	87965285	A	C	A87965285C	PTEN	NM_000314.7(PTEN):c.1027-2A>C	noncoding	Pathogenic
10	87965285	A	G	A87965285G	PTEN	NM_000314.7(PTEN):c.1027-2A>G	noncoding	Pathogenic/Likely_pathogenic
10	87965286	G	A	G87965286A	PTEN	NM_000314.7(PTEN):c.1027-1G>A	noncoding	Pathogenic
10	87965286	G	C	G87965286C	PTEN	NM_000314.7(PTEN):c.1027-1G>C	noncoding	Pathogenic
10	87965472	A	C	A87965472C	PTEN	NM_000314.7(PTEN):c.1212A>C:p.Ter404Cys	coding	Pathogenic
10	87965472	A	T	A87965472T	PTEN	NM_000314.7(PTEN):c.1212A>T:p.Ter404Cys	coding	Pathogenic
10	87965825	C	T	C87965825T	PTEN	NM_000314.7(PTEN):c.*353C>T	noncoding	Benign
10	87966260	T	C	T87966260C	PTEN	NM_000314.7(PTEN):c.*788T>C	noncoding	Benign
10	87966709	A	G	A87966709G	PTEN	NM_000314.7(PTEN):c.*1237A>G	noncoding	Benign
10	87966988	T	C	T87966988C	PTEN	NM_000314.7(PTEN):c.*1516T>C	noncoding	Benign
10	87967037	C	A	C87967037A	PTEN	NM_000314.7(PTEN):c.*1565C>A	noncoding	Benign
10	87967092	T	C	T87967092C	PTEN	NM_000314.7(PTEN):c.*1620T>C	noncoding	Benign
10	87967167	C	A	C87967167A	PTEN	NM_000314.8(PTEN):c.*1695C>A	noncoding	Benign
10	87967174	G	A	G87967174A	PTEN	NM_000314.7(PTEN):c.*1702G>A	noncoding	Benign
10	87967417	G	A	G87967417A	PTEN	NM_000314.7(PTEN):c.*1945G>A	noncoding	Benign
10	87967426	A	T	A87967426T	PTEN	NM_000314.7(PTEN):c.*1954A>T	noncoding	Benign
10	87967427	T	A	T87967427A	PTEN	NM_000314.7(PTEN):c.*1955T>A	noncoding	Benign
10	87967634	A	G	A87967634G	PTEN	NM_000314.7(PTEN):c.*2162A>G	noncoding	Benign
10	87967645	C	T	C87967645T	PTEN	NM_000314.7(PTEN):c.*2173C>T	noncoding	Benign
10	87967657	C	T	C87967657T	PTEN	NM_000314.7(PTEN):c.*2185C>T	noncoding	Benign
10	87967887	C	G	C87967887G	PTEN	NM_000314.7(PTEN):c.*2415C>G	noncoding	Benign
10	88362631	A	T	A88362631T	RNLS	NM_001031709.3(RNLS):c.621T>A:p.Asp207Glu	coding	Benign
10	88362711	G	T	G88362711T	RNLS	NM_001031709.3(RNLS):c.541C>A:p.Gln181Lys	coding	Benign
10	88770926	C	T	C88770926T	LIPN	NM_001102469.1(LIPN):c.754C>T:p.Leu252Phe	coding	Benign
10	88770943	C	T	C88770943T	LIPN	NM_001102469.1(LIPN):c.771C>T:p.Ser257=	coding	Benign
10	88778107	G	C	G88778107C	LIPN	NM_001102469.1(LIPN):c.1062G>C:p.Arg354Ser	coding	Benign
10	88778153	G	T	G88778153T	LIPN	NM_001102469.1(LIPN):c.1108G>T:p.Asp370Tyr	coding	Benign
10	88935486	G	A	G88935486A	ACTA2	NM_001613.4(ACTA2):c.991-120C>T	coding	Benign
10	88935654	T	C	T88935654C	ACTA2	NM_001613.4(ACTA2):c.991-288A>G	noncoding	Benign
10	88938111	G	A	G88938111A	ACTA2	NM_001613.4(ACTA2):c.940C>T:p.Arg314Ter	coding	Pathogenic
10	88938242	C	T	C88938242T	ACTA2	NM_001613.4(ACTA2):c.809G>A:p.Gly270Glu	coding	Pathogenic
10	88939542	C	T	C88939542T	ACTA2	NM_001613.4(ACTA2):c.773G>A:p.Arg258His	coding	Pathogenic
10	88939543	G	A	G88939543A	ACTA2	NM_001613.4(ACTA2):c.772C>T:p.Arg258Cys	coding	Pathogenic/Likely_pathogenic
10	88939680	C	T	C88939680T	ACTA2	NM_001613.4(ACTA2):c.635G>A:p.Arg212Gln	coding	Pathogenic/Likely_pathogenic
10	88941309	C	T	C88941309T	ACTA2	NM_001613.4(ACTA2):c.536G>A:p.Arg179His	coding	Pathogenic
10	88941310	G	A	G88941310A	ACTA2	NM_001613.4(ACTA2):c.535C>T:p.Arg179Cys	coding	Pathogenic
10	88941310	G	T	G88941310T	ACTA2	NM_001613.4(ACTA2):c.535C>A:p.Arg179Ser	coding	Pathogenic
10	88941407	C	T	C88941407T	ACTA2	NM_001613.4(ACTA2):c.455-17G>A	noncoding	Benign
10	88941794	G	A	G88941794A	ACTA2	NM_001613.4(ACTA2):c.445C>T:p.Arg149Cys	coding	Pathogenic
10	88941822	C	T	C88941822T	ACTA2	NM_001613.4(ACTA2):c.417G>A:p.Gln139=	coding	Benign/Likely_benign
10	88941888	A	G	A88941888G	ACTA2	NM_001613.4(ACTA2):c.370-19T>C	noncoding	Benign
10	88943708	C	T	C88943708T	ACTA2	NM_001613.4(ACTA2):c.369+89G>A	noncoding	Benign
10	88943813	C	T	C88943813T	ACTA2	NM_001613.4(ACTA2):c.353G>A:p.Arg118Gln	coding	Pathogenic
10	88947351	G	A	G88947351A	ACTA2	NM_001613.4(ACTA2):c.165C>T:p.Tyr55=	coding	Benign/Likely_benign
10	88947371	T	C	T88947371C	ACTA2	NM_001613.4(ACTA2):c.145A>G:p.Met49Val	coding	Pathogenic
10	88947640	A	G	A88947640G	ACTA2	NM_001613.4(ACTA2):c.130-254T>C	noncoding	Benign
10	88948816	G	A	G88948816A	ACTA2	NM_001613.4(ACTA2):c.115C>T:p.Arg39Cys	coding	Pathogenic/Likely_pathogenic
10	88948853	G	A	G88948853A	ACTA2	NM_001613.4(ACTA2):c.78C>T:p.Asp26=	coding	Benign/Likely_benign
10	88948930	T	C	T88948930C	ACTA2	NM_001613.4(ACTA2):c.1A>G:p.Met1Val	coding	Pathogenic
10	88990206	A	G	A88990206G	FAS	NM_001141945.2(ACTA2):c.-24+733T>C	noncoding	Benign
10	88990782	G	A	G88990782A	ACTA2;FAS	NM_001141945.2(ACTA2):c.-24+157C>T	noncoding	Benign/Likely_benign
10	88990843	A	G	A88990843G	ACTA2;FAS	NM_000043.6(FAS):c.-34A>G	noncoding	Benign/Likely_benign
10	88990918	C	T	C88990918T	FAS	NM_000043.6(FAS):c.30+12C>T	noncoding	Benign
10	89003031	T	A	T89003031A	FAS	NM_000043.6(FAS):c.33T>A:p.Val11=	coding	Benign
10	89003044	G	A	G89003044A	FAS	NM_000043.6(FAS):c.46G>A:p.Ala16Thr	coding	Benign/Likely_benign
10	89003071	G	A	G89003071A	FAS	NM_000043.6(FAS):c.73G>A:p.Ala25Thr	coding	Pathogenic
10	89003076	A	G	A89003076G	FAS	NM_000043.6(FAS):c.78A>G:p.Gln26=	coding	Benign
10	89003101	T	C	T89003101C	FAS	NM_000043.6(FAS):c.103T>C:p.Leu35=	coding	Benign/Likely_benign
10	89003108	T	A	T89003108A	FAS	NM_000043.6(FAS):c.110T>A:p.Leu37Ter	coding	Pathogenic
10	89003139	G	A	G89003139A	FAS	NM_000043.6(FAS):c.141G>A:p.Gln47=	coding	Benign
10	89003181	G	A	G89003181A	FAS	NM_000043.6(FAS):c.183G>A:p.Lys61=	coding	Benign
10	89007725	A	G	A89007725G	FAS	NM_000043.6(FAS):c.222A>G:p.Thr74=	coding	Benign
10	89008907	A	G	A89008907G	FAS	NM_000043.6(FAS):c.353A>G:p.Asn118Ser	coding	Pathogenic
10	89008915	C	T	C89008915T	FAS	NM_000043.6(FAS):c.361C>T:p.Arg121Trp	coding	Pathogenic
10	89008919	C	T	C89008919T	FAS	NM_000043.6(FAS):c.365C>T:p.Thr122Ile	coding	Benign
10	89008923	G	A	G89008923A	FAS	NM_000043.6(FAS):c.369G>A:p.Gln123=	coding	Benign/Likely_benign
10	89008998	G	A	G89008998A	FAS	NM_000043.6(FAS):c.443+1G>A	coding	Pathogenic
10	89010616	C	T	C89010616T	FAS	NM_000043.6(FAS):c.505+16C>T	noncoding	Benign
10	89010779	T	C	T89010779C	FAS	NM_000043.6(FAS):c.532T>C:p.Cys178Arg	coding	Pathogenic
10	89010797	A	G	A89010797G	FAS	NM_000043.6(FAS):c.550A>G:p.Ile184Val	coding	Benign/Likely_benign
10	89011997	A	C	A89011997C	FAS	NM_000043.6(FAS):c.569-2A>C	noncoding	Pathogenic
10	89012072	T	C	T89012072C	FAS	NM_000043.6(FAS):c.642T>C:p.Thr214=	coding	Benign
10	89012082	G	A	G89012082A	FAS	NM_000043.6(FAS):c.651+1G>A	coding	Pathogenic/Likely_pathogenic
10	89012082	G	T	G89012082T	FAS	NM_000043.6(FAS):c.651+1G>T	coding	Pathogenic
10	89012083	T	A	T89012083A	FAS	NM_000043.6(FAS):c.651+2T>A	noncoding	Pathogenic
10	89012083	T	C	T89012083C	FAS	NM_000043.6(FAS):c.651+2T>C	noncoding	Pathogenic
10	89013342	G	A	G89013342A	FAS	NM_000043.6(FAS):c.652-1G>A	noncoding	Pathogenic
10	89013368	G	A	G89013368A	FAS	NM_000043.6(FAS):c.676+1G>A	coding	Pathogenic
10	89014163	A	C	A89014163C	FAS	NM_000043.6(FAS):c.721A>C:p.Thr241Pro	coding	Pathogenic
10	89014182	G	C	G89014182C	FAS	NM_000043.6(FAS):c.740G>C:p.Gly247Ala	coding	Pathogenic
10	89014190	C	T	C89014190T	FAS	NM_000043.6(FAS):c.748C>T:p.Arg250Ter	coding	Pathogenic
10	89014205	A	G	A89014205G	FAS	NM_000043.6(FAS):c.763A>G:p.Asn255Asp	coding	Pathogenic
10	89014212	C	A	C89014212A	FAS	NM_000043.6(FAS):c.770C>A:p.Ala257Asp	coding	Pathogenic
10	89014220	G	T	G89014220T	FAS	NM_000043.6(FAS):c.778G>T:p.Asp260Tyr	coding	Pathogenic
10	89014221	A	T	A89014221T	FAS	NM_000043.6(FAS):c.779A>T:p.Asp260Val	coding	Pathogenic
10	89014251	C	T	C89014251T	FAS	NM_000043.6(FAS):c.809C>T:p.Thr270Ile	coding	Pathogenic
10	89014257	A	G	A89014257G	FAS	NM_000043.6(FAS):c.815A>G:p.Glu272Gly	coding	Pathogenic
10	89014259	C	T	C89014259T	FAS	NM_000043.6(FAS):c.817C>T:p.Gln273Ter	coding	Pathogenic
10	89014534	G	A	G89014534A	FAS	NM_000043.6(FAS):c.*84G>A	noncoding	Benign
10	89014592	A	G	A89014592G	FAS	NM_000043.6(FAS):c.*142A>G	noncoding	Benign
10	89014624	A	G	A89014624G	FAS	NM_000043.6(FAS):c.*174A>G	noncoding	Benign
10	89015015	A	T	A89015015T	FAS	NM_000043.6(FAS):c.*565A>T	noncoding	Benign
10	89015032	T	G	T89015032G	FAS	NM_000043.6(FAS):c.*582T>G	noncoding	Benign
10	89015088	T	C	T89015088C	FAS	NM_000043.6(FAS):c.*638T>C	noncoding	Benign
10	89015215	T	C	T89015215C	FAS	NM_000043.6(FAS):c.*765T>C	noncoding	Benign
10	89015303	C	T	C89015303T	FAS	NM_000043.6(FAS):c.*853C>T	noncoding	Benign
10	89015534	C	T	C89015534T	FAS	NM_000043.6(FAS):c.*1084C>T	noncoding	Benign
10	89015653	G	A	G89015653A	FAS	NM_000043.6(FAS):c.*1203G>A	noncoding	Benign
10	89015783	G	T	G89015783T	FAS	NM_000043.6(FAS):c.*1333G>T	noncoding	Benign
10	89213641	G	T	G89213641T	LIPA	NM_000235.4(LIPA):c.*1187C>A	noncoding	Benign/Likely_benign
10	89213735	G	A	G89213735A	LIPA	NM_000235.4(LIPA):c.*1093C>T	noncoding	Benign/Likely_benign
10	89213919	A	T	A89213919T	LIPA	NM_000235.4(LIPA):c.*909T>A	noncoding	Benign
10	89213987	G	C	G89213987C	LIPA	NM_000235.4(LIPA):c.*841C>G	noncoding	Benign/Likely_benign
10	89215004	C	T	C89215004T	LIPA	NM_000235.4(LIPA):c.1024G>A:p.Gly342Arg	coding	Pathogenic/Likely_pathogenic
10	89215360	C	G	C89215360G	LIPA	NM_000235.4(LIPA):c.967-299G>C	noncoding	Benign
10	89215892	G	A	G89215892A	LIPA	NM_000235.4(LIPA):c.966+46C>T	noncoding	Benign
10	89222324	A	G	A89222324G	LIPA	NM_000235.4(LIPA):c.894+187T>C	noncoding	Benign
10	89222504	T	C	T89222504C	LIPA	NM_000235.4(LIPA):c.894+7A>G	noncoding	Benign
10	89222510	C	T	C89222510T	LIPA	NM_000235.4(LIPA):c.894+1G>A	noncoding	Pathogenic
10	89222511	C	T	C89222511T	LIPA	NM_000235.4(LIPA):c.894G>A:p.Gln298=	coding	Pathogenic/Likely_pathogenic
10	89223683	C	G	C89223683G	LIPA	NM_000235.4(LIPA):c.822+1G>C	noncoding	Pathogenic
10	89223710	C	A	C89223710A	LIPA	NM_000235.4(LIPA):c.796G>T:p.Gly266Ter	coding	Pathogenic
10	89223750	T	G	T89223750G	LIPA	NM_000235.4(LIPA):c.756A>C:p.Ile252=	coding	Benign
10	89223832	T	A	T89223832A	LIPA	NM_000235.4(LIPA):c.676-2A>T	noncoding	Pathogenic
10	89223872	C	T	C89223872T	LIPA	NM_000235.4(LIPA):c.676-42G>A	noncoding	Benign
10	89225030	T	G	T89225030G	LIPA	NM_000235.4(LIPA):c.675+62A>C	noncoding	Benign
10	89225111	A	C	A89225111C	LIPA	NM_000235.4(LIPA):c.656T>G:p.Leu219Ter	coding	Pathogenic
10	89225168	A	G	A89225168G	LIPA	NM_000235.4(LIPA):c.599T>C:p.Leu200Pro	coding	Pathogenic/Likely_pathogenic
10	89225230	T	C	T89225230C	LIPA	NM_000235.4(LIPA):c.539-2A>G	noncoding	Pathogenic
10	89225233	G	A	G89225233A	LIPA	NM_000235.4(LIPA):c.539-5C>T	noncoding	Benign
10	89227250	T	C	T89227250C	LIPA	NM_000235.4(LIPA):c.429-246A>G	noncoding	Benign
10	89228209	C	T	C89228209T	LIPA	NM_000235.4(LIPA):c.419G>A:p.Trp140Ter	coding	Pathogenic
10	89228222	G	A	G89228222A	LIPA	NM_000235.4(LIPA):c.406C>T:p.Gln136Ter	coding	Pathogenic
10	89228368	C	A	C89228368A	LIPA	NM_000235.4(LIPA):c.260G>T:p.Gly87Val	coding	Pathogenic/Likely_pathogenic
10	89228375	G	A	G89228375A	LIPA	NM_000235.4(LIPA):c.253C>T:p.Gln85Ter	coding	Pathogenic
10	89228493	C	G	C89228493G	LIPA	NM_000235.4(LIPA):c.230-95G>C	noncoding	Benign
10	89245712	G	A	G89245712A	LIPA	NM_000235.4(LIPA):c.193C>T:p.Arg65Ter	coding	Pathogenic
10	89245776	G	C	G89245776C	LIPA	NM_000235.4(LIPA):c.129C>G:p.Tyr43Ter	coding	Pathogenic
10	89245799	G	A	G89245799A	LIPA	NM_000235.4(LIPA):c.112-6C>T	noncoding	Benign
10	89246097	C	T	C89246097T	LIPA	NM_000235.4(LIPA):c.112-304G>A	noncoding	Benign
10	89247582	C	T	C89247582T	LIPA	NM_000235.4(LIPA):c.67G>A:p.Gly23Arg	coding	Benign/Likely_benign
10	89247603	T	G	T89247603G	LIPA	NM_000235.4(LIPA):c.46A>C:p.Thr16Pro	coding	Benign
10	89247713	C	A	C89247713A	LIPA	NM_000235.4(LIPA):c.-1-64G>T	noncoding	Benign
10	89306689	G	C	G89306689C	IFIT2	NM_001547.5(IFIT2):c.733G>C:p.Gly245Arg	coding	Benign
10	89306849	T	C	T89306849C	IFIT2	NM_001547.5(IFIT2):c.893T>C:p.Val298Ala	coding	Benign
10	89339709	G	C	G89339709C	IFIT3	NM_001549.6(IFIT3):c.1054G>C:p.Val352Leu	coding	Benign
10	89339880	C	T	C89339880T	IFIT3	NM_001549.6(IFIT3):c.1225C>T:p.Leu409=	coding	Benign
10	89383876	T	C	T89383876C	IFIT1B	NM_001010987.2(IFIT1B):c.563T>C:p.Leu188Pro	coding	Benign
10	89402416	C	T	C89402416T	IFIT1	NM_001548.5(IFIT1):c.141C>T:p.Asp47=	coding	Benign
10	89417673	G	A	G89417673A	IFIT5	NM_012420.3(IFIT5):c.474G>A:p.Lys158=	coding	Benign
10	89418391	C	T	C89418391T	IFIT5	NM_012420.3(IFIT5):c.1192C>T:p.His398Tyr	coding	Benign
10	89438899	G	A	G89438899A	SLC16A12	NM_213606.4(SLC16A12):c.733C>T:p.Gln245Ter	coding	Pathogenic
10	89462530	A	C	A89462530C	SLC16A12	NM_213606.4(SLC16A12):c.49T>G:p.Trp17Gly	coding	Benign
10	89644972	C	T	C89644972T	PANK1	NM_148977.2(PANK1):c.331G>A:p.Gly111Arg	coding	Benign
10	89717580	T	A	T89717580A	KIF20B	NM_001284259.1(KIF20B):c.1129T>A:p.Ser377Thr	coding	Benign
10	89738973	C	T	C89738973T	KIF20B	NM_001284259.1(KIF20B):c.3792C>T:p.Leu1264=	coding	Benign
10	89745947	A	C	A89745947C	KIF20B	NM_001284259.1(KIF20B):c.4084A>C:p.Arg1362=	coding	Benign
10	90743643	G	C	G90743643C	HTR7	NM_019859.4(HTR7):c.1343C>G:p.Pro448Arg	coding	Benign
10	90857486	C	A	C90857486A	HTR7	NM_019859.4(HTR7):c.186G>T:p.Ala62=	coding	Benign
10	90912807	T	C	T90912807C	ANKRD1	NM_014391.2(ANKRD1):c.*59A>G	noncoding	Benign
10	90916219	A	C	A90916219C	ANKRD1	NM_014391.2(ANKRD1):c.603T>G:p.Val201=	coding	Benign
10	90916370	T	C	T90916370C	ANKRD1	NM_014391.2(ANKRD1):c.553-101A>G	noncoding	Benign
10	90918970	C	T	C90918970T	ANKRD1	NM_014391.3(ANKRD1):c.348G>A:p.Thr116=	coding	Benign
10	90918987	A	T	A90918987T	ANKRD1	NM_014391.2(ANKRD1):c.346-15T>A	noncoding	Benign/Likely_benign
10	90918991	A	T	A90918991T	ANKRD1	NM_014391.2(ANKRD1):c.346-19T>A	noncoding	Benign
10	90919157	C	A	C90919157A	ANKRD1	NM_014391.3(ANKRD1):c.319G>T:p.Val107Leu	coding	Benign/Likely_benign
10	90919283	C	T	C90919283T	ANKRD1	NM_014391.3(ANKRD1):c.208-15G>A	noncoding	Benign/Likely_benign
10	90919284	G	A	G90919284A	ANKRD1	NM_014391.2(ANKRD1):c.208-16C>T	noncoding	Benign
10	90919873	G	C	G90919873C	ANKRD1	NM_014391.2(ANKRD1):c.207+296C>G	noncoding	Benign
10	90920180	G	C	G90920180C	ANKRD1	NM_014391.3(ANKRD1):c.196C>G:p.Arg66Gly	coding	Benign/Likely_benign
10	90920226	G	C	G90920226C	ANKRD1	NM_014391.3(ANKRD1):c.150C>G:p.Ala50=	coding	Benign/Likely_benign
10	90920228	C	G	C90920228G	ANKRD1	NM_014391.3(ANKRD1):c.148G>C:p.Ala50Pro	coding	Benign/Likely_benign
10	90920268	A	G	A90920268G	ANKRD1	NM_014391.2(ANKRD1):c.108T>C:p.Ala36=	coding	Benign/Likely_benign
10	90920700	G	A	G90920700A	ANKRD1	NM_014391.2(ANKRD1):c.27+301C>T	noncoding	Benign
10	90921044	T	C	T90921044C	ANKRD1	NM_014391.2(ANKRD1):c.-17A>G	noncoding	Benign/Likely_benign
10	90921061	G	A	G90921061A	ANKRD1	NM_014391.2(ANKRD1):c.-34C>T	noncoding	Benign/Likely_benign
10	90921172	A	G	A90921172G	ANKRD1	NM_014391.2(ANKRD1):c.-145T>C	noncoding	Benign
10	91500570	G	A	G91500570A	HECTD2	NM_001284274.2(HECTD2):c.2031G>A:p.Gln677=	coding	Benign
10	91500606	C	T	C91500606T	HECTD2	NM_001284274.2(HECTD2):c.2067C>T:p.Asp689=	coding	Benign
10	91834033	T	G	T91834033G	TNKS2	NM_025235.4(TNKS2):c.1447+9T>G	noncoding	Benign
10	91848499	C	T	C91848499T	TNKS2	NM_025235.4(TNKS2):c.2475C>T:p.Leu825=	coding	Benign
10	91989346	T	C	T91989346C	BTAF1	NM_003972.3(BTAF1):c.2620T>C:p.Leu874=	coding	Benign
10	92239511	G	A	G92239511A	CPEB3	NM_014912.5(CPEB3):c.840C>T:p.Val280=	coding	Benign
10	92463969	A	G	A92463969G	IDE	NM_004969.4(IDE):c.2523T>C:p.Asn841=	coding	Benign
10	92465791	G	T	G92465791T	IDE	NM_004969.4(IDE):c.2373C>A:p.Ile791=	coding	Benign
10	92573990	G	A	G92573990A	IDE	NM_004969.4(IDE):c.30C>T:p.His10=	coding	Benign
10	92593377	T	C	T92593377C	KIF11	NM_004523.4(KIF11):c.2T>C:p.Met1Thr	coding	Pathogenic
10	92593453	G	A	G92593453A	KIF11	NM_004523.4(KIF11):c.77+1G>A	coding	Pathogenic
10	92606326	C	T	C92606326T	KIF11	NM_004523.4(KIF11):c.139C>T:p.Arg47Ter	coding	Pathogenic
10	92606655	C	T	C92606655T	KIF11	NM_004523.4(KIF11):c.247C>T:p.Arg83Ter	coding	Pathogenic
10	92606682	G	T	G92606682T	KIF11	NM_004523.4(KIF11):c.274G>T:p.Glu92Ter	coding	Pathogenic
10	92606717	G	A	G92606717A	KIF11	NM_004523.4(KIF11):c.308+1G>A	coding	Pathogenic
10	92607141	A	G	A92607141G	KIF11	NM_004523.4(KIF11):c.309-18A>G	noncoding	Benign
10	92607231	G	A	G92607231A	KIF11	NM_004523.4(KIF11):c.381G>A:p.Trp127Ter	coding	Pathogenic/Likely_pathogenic
10	92609068	A	T	A92609068T	KIF11	NM_004523.4(KIF11):c.436A>T:p.Lys146Ter	coding	Pathogenic
10	92613376	G	A	G92613376A	KIF11	NM_004523.4(KIF11):c.790-1G>A	noncoding	Pathogenic
10	92613376	G	T	G92613376T	KIF11	NM_004523.4(KIF11):c.790-1G>T	noncoding	Pathogenic
10	92613455	C	T	C92613455T	KIF11	NM_004523.4(KIF11):c.868C>T:p.Gln290Ter	coding	Pathogenic
10	92616811	C	G	C92616811G	KIF11	NM_004523.4(KIF11):c.1107C>G:p.Leu369=	coding	Benign
10	92621415	C	T	C92621415T	KIF11	NM_004523.4(KIF11):c.1159C>T:p.Arg387Ter	coding	Pathogenic
10	92630278	G	T	G92630278T	KIF11	NM_004523.4(KIF11):c.1408G>T:p.Glu470Ter	coding	Pathogenic
10	92632569	C	A	C92632569A	KIF11	NM_004523.4(KIF11):c.1578C>A:p.His526Gln	coding	Benign
10	92632634	T	G	T92632634G	KIF11	NM_004523.4(KIF11):c.1643T>G:p.Leu548Ter	coding	Pathogenic
10	92632694	G	A	G92632694A	KIF11	NM_004523.4(KIF11):c.1702+1G>A	coding	Pathogenic
10	92632702	A	T	A92632702T	KIF11	NM_004523.4(KIF11):c.1702+9A>T	noncoding	Benign
10	92633726	G	A	G92633726A	KIF11	NM_004523.4(KIF11):c.1806G>A:p.Gln602=	coding	Benign
10	92637187	G	T	G92637187T	KIF11	NM_004523.4(KIF11):c.1879G>T:p.Val627Leu	coding	Benign
10	92637232	C	G	C92637232G	KIF11	NM_004523.4(KIF11):c.1924C>G:p.Pro642Ala	coding	Benign
10	92637429	C	G	C92637429G	KIF11	NM_004523.4(KIF11):c.2044C>G:p.Leu682Val	coding	Benign
10	92637538	A	T	A92637538T	KIF11	NM_004523.4(KIF11):c.2153A>T:p.His718Leu	coding	Benign
10	92637546	G	T	G92637546T	KIF11	NM_004523.4(KIF11):c.2160+1G>T	coding	Pathogenic
10	92639799	T	G	T92639799G	KIF11	NM_004523.4(KIF11):c.2166T>G:p.Leu722=	coding	Benign
10	92639863	C	T	C92639863T	KIF11	NM_004523.4(KIF11):c.2230C>T:p.Gln744Ter	coding	Pathogenic
10	92645436	C	T	C92645436T	KIF11	NM_004523.4(KIF11):c.2341C>T:p.Gln781Ter	coding	Pathogenic
10	92645544	C	T	C92645544T	KIF11	NM_004523.4(KIF11):c.2449C>T:p.Gln817Ter	coding	Pathogenic
10	92645589	C	T	C92645589T	KIF11	NM_004523.4(KIF11):c.2494C>T:p.Gln832Ter	coding	Pathogenic
10	92645607	A	C	A92645607C	KIF11	NM_004523.4(KIF11):c.2512A>C:p.Asn838His	coding	Benign/Likely_benign
10	92645644	T	C	T92645644C	KIF11	NM_004523.4(KIF11):c.2547+2T>C	noncoding	Pathogenic
10	92648211	G	A	G92648211A	KIF11	NM_004523.4(KIF11):c.2548-1G>A	noncoding	Pathogenic
10	92648328	A	G	A92648328G	KIF11	NM_004523.4(KIF11):c.2664A>G:p.Glu888=	coding	Benign
10	92648450	A	G	A92648450G	KIF11	NM_004523.4(KIF11):c.2770+16A>G	noncoding	Benign
10	92649829	T	A	T92649829A	KIF11	NM_004523.4(KIF11):c.2771-6T>A	noncoding	Benign
10	92649846	C	T	C92649846T	KIF11	NM_004523.4(KIF11):c.2782C>T:p.Gln928Ter	coding	Pathogenic
10	92649866	C	G	C92649866G	KIF11	NM_004523.4(KIF11):c.2802C>G:p.Tyr934Ter	coding	Pathogenic
10	92653751	G	C	G92653751C	KIF11	NM_004523.4(KIF11):c.3126G>C:p.Leu1042Phe	coding	Benign
10	92653815	A	G	A92653815G	KIF11	NM_004523.4(KIF11):c.*19A>G	noncoding	Benign
10	92694656	C	G	C92694656G	HHEX	NM_002729.5(HHEX):c.701C>G:p.Ser234Cys	coding	Benign
10	93061447	A	T	A93061447T	CYP26C1	NM_183374.3(CYP26C1):c.184A>T:p.Thr62Ser	coding	Benign
10	93062823	C	T	C93062823T	CYP26C1	NM_183374.3(CYP26C1):c.533C>T:p.Pro178Leu	coding	Benign
10	93064388	G	A	G93064388A	CYP26C1	NM_183374.3(CYP26C1):c.713G>A:p.Arg238Gln	coding	Benign
10	93065961	G	T	G93065961T	CYP26C1	NM_183374.3(CYP26C1):c.867G>T:p.Ser289=	coding	Benign
10	93065979	C	T	C93065979T	CYP26C1	NM_183374.3(CYP26C1):c.885C>T:p.Phe295=	coding	Benign
10	93068529	C	G	C93068529G	CYP26C1	NM_183374.3(CYP26C1):c.1401C>G:p.Ala467=	coding	Benign
10	93074796	C	T	C93074796T	CYP26A1	NM_000783.4(CYP26A1):c.432C>T:p.Phe144=	coding	Benign
10	93074811	C	G	C93074811G	CYP26A1	NM_000783.4(CYP26A1):c.447C>G:p.Leu149=	coding	Benign
10	93077001	T	C	T93077001C	CYP26A1	NM_000783.4(CYP26A1):c.1191T>C:p.Ser397=	coding	Benign
10	93325817	G	A	G93325817A	MYOF	NM_013451.4(MYOF):c.5271+9C>T	noncoding	Benign
10	93328896	G	C	G93328896C	MYOF	NM_013451.4(MYOF):c.4998C>G:p.Thr1666=	coding	Benign
10	93333874	C	T	C93333874T	MYOF	NM_013451.4(MYOF):c.4603G>A:p.Val1535Met	coding	Benign
10	93337875	A	G	A93337875G	MYOF	NM_013451.4(MYOF):c.4377T>C:p.Ala1459=	coding	Benign
10	93351406	A	G	A93351406G	MYOF	NM_013451.4(MYOF):c.3822+7T>C	noncoding	Benign
10	93353886	C	T	C93353886T	MYOF	NM_013451.4(MYOF):c.3406G>A:p.Val1136Ile	coding	Benign
10	93500226	C	T	C93500226T	CEP55	NM_018131.5(CEP55):c.175C>T:p.Leu59Phe	coding	Benign
10	93503185	C	T	C93503185T	CEP55	NM_018131.5(CEP55):c.256C>T:p.Arg86Ter	coding	Pathogenic
10	93503223	C	T	C93503223T	CEP55	NM_018131.5(CEP55):c.294C>T:p.Thr98=	coding	Benign
10	93507042	A	G	A93507042G	CEP55	NM_018131.5(CEP55):c.514A>G:p.Ile172Val	coding	Benign
10	93517062	T	G	T93517062G	CEP55	NM_018131.5(CEP55):c.807T>G:p.Tyr269Ter	coding	Pathogenic
10	93519809	T	C	T93519809C	CEP55	NM_018131.5(CEP55):c.1191+2T>C	noncoding	Pathogenic
10	93528030	C	T	C93528030T	CEP55	NM_018131.5(CEP55):c.1272C>T:p.Ala424=	coding	Benign
10	93528032	C	A	C93528032A	CEP55	NM_018131.5(CEP55):c.1274C>A:p.Ser425Ter	coding	Pathogenic
10	93587293	A	G	A93587293G	FFAR4	NM_001195755.2(FFAR4):c.770A>G:p.Gln257Arg	coding	Benign
10	93587522	T	A	T93587522A	FFAR4	NM_001195755.2(FFAR4):c.999T>A:p.Ile333=	coding	Benign
10	93593865	C	A	C93593865A	RBP4	NM_006744.4(RBP4):c.526G>T:p.Glu176Ter	coding	Pathogenic
10	93593997	A	T	A93593997T	RBP4	NM_006744.4(RBP4):c.394T>A:p.Tyr132Asn	coding	Pathogenic
10	93600270	A	C	A93600270C	RBP4	NM_006744.4(RBP4):c.355+123T>G	noncoding	Benign
10	93600470	C	T	C93600470T	RBP4	NM_006744.4(RBP4):c.278G>A:p.Gly93Asp	coding	Pathogenic
10	93600698	C	T	C93600698T	RBP4	NM_006744.4(RBP4):c.217G>A:p.Ala73Thr	coding	Pathogenic
10	93600786	G	C	G93600786C	RBP4	NM_006744.4(RBP4):c.129C>G:p.Tyr43Ter	coding	Pathogenic
10	93600917	C	T	C93600917T	RBP4	NM_006744.4(RBP4):c.111+1G>A	noncoding	Pathogenic
10	93612761	C	A	C93612761A	PDE6C	NM_006204.4(PDE6C):c.36C>A:p.Tyr12Ter	coding	Pathogenic
10	93612810	C	T	C93612810T	PDE6C	NM_006204.4(PDE6C):c.85C>T:p.Arg29Trp	coding	Pathogenic
10	93612928	C	T	C93612928T	PDE6C	NM_006204.4(PDE6C):c.203C>T:p.Thr68Ile	coding	Benign/Likely_benign
10	93612936	G	T	G93612936T	PDE6C	NM_006204.4(PDE6C):c.211G>T:p.Glu71Ter	coding	Pathogenic
10	93612977	G	A	G93612977A	PDE6C	NM_006204.4(PDE6C):c.252G>A:p.Leu84=	coding	Benign
10	93613007	C	T	C93613007T	PDE6C	NM_006204.4(PDE6C):c.282C>T:p.Asp94=	coding	Benign
10	93613160	G	A	G93613160A	PDE6C	NM_006204.4(PDE6C):c.435G>A:p.Trp145Ter	coding	Pathogenic
10	93613196	T	G	T93613196G	PDE6C	NM_006204.4(PDE6C):c.471T>G:p.Asp157Glu	coding	Benign
10	93620620	T	A	T93620620A	PDE6C	NM_006204.4(PDE6C):c.481-12T>A	noncoding	Pathogenic
10	93620784	G	C	G93620784C	PDE6C	NM_006204.4(PDE6C):c.633G>C:p.Glu211Asp	coding	Pathogenic
10	93621983	C	T	C93621983T	PDE6C	NM_006204.4(PDE6C):c.775C>T:p.Arg259Ter	coding	Pathogenic
10	93622016	T	A	T93622016A	PDE6C	NM_006204.4(PDE6C):c.808T>A:p.Ser270Thr	coding	Benign
10	93622034	C	T	C93622034T	PDE6C	NM_006204.4(PDE6C):c.826C>T:p.Arg276Ter	coding	Pathogenic
10	93626667	T	A	T93626667A	PDE6C	NM_006204.4(PDE6C):c.967T>A:p.Tyr323Asn	coding	Pathogenic
10	93629284	G	A	G93629284A	PDE6C	NM_006204.4(PDE6C):c.1098G>A:p.Ala366=	coding	Benign
10	93629326	A	G	A93629326G	PDE6C	NM_006204.4(PDE6C):c.1119+21A>G	noncoding	Benign
10	93634908	G	A	G93634908A	PDE6C	NM_006204.4(PDE6C):c.1269+1G>A	coding	Pathogenic/Likely_pathogenic
10	93635488	C	T	C93635488T	PDE6C	NM_006204.4(PDE6C):c.1270-9C>T	noncoding	Benign
10	93635490	A	G	A93635490G	PDE6C	NM_006204.4(PDE6C):c.1270-7A>G	noncoding	Benign
10	93635519	G	A	G93635519A	PDE6C	NM_006204.4(PDE6C):c.1292G>A:p.Trp431Ter	coding	Pathogenic
10	93635590	A	G	A93635590G	PDE6C	NM_006204.4(PDE6C):c.1363A>G:p.Met455Val	coding	Pathogenic
10	93635607	C	G	C93635607G	PDE6C	NM_006204.4(PDE6C):c.1380C>G:p.Thr460=	coding	Benign
10	93636986	A	C	A93636986C	PDE6C	NM_006204.4(PDE6C):c.1414-9A>C	noncoding	Benign
10	93640068	A	G	A93640068G	PDE6C	NM_006204.4(PDE6C):c.1483-2A>G	noncoding	Pathogenic
10	93640069	G	T	G93640069T	PDE6C	NM_006204.4(PDE6C):c.1483-1G>T	noncoding	Pathogenic
10	93640166	C	T	C93640166T	PDE6C	NM_006204.4(PDE6C):c.1579C>T:p.Arg527Ter	coding	Pathogenic
10	93640987	A	T	A93640987T	PDE6C	NM_006204.4(PDE6C):c.1805A>T:p.His602Leu	coding	Pathogenic
10	93646057	C	A	C93646057A	PDE6C	NM_006204.4(PDE6C):c.1935+10C>A	noncoding	Benign
10	93655751	A	G	A93655751G	PDE6C	NM_006204.4(PDE6C):c.1936-9A>G	noncoding	Benign/Likely_benign
10	93655862	T	G	T93655862G	PDE6C	NM_006204.4(PDE6C):c.2036+2T>G	noncoding	Pathogenic
10	93658960	A	C	A93658960C	PDE6C	NM_006204.4(PDE6C):c.2096A>C:p.Glu699Ala	coding	Benign/Likely_benign
10	93659151	G	A	G93659151A	PDE6C	NM_006204.4(PDE6C):c.2192G>A:p.Trp731Ter	coding	Pathogenic
10	93663028	G	A	G93663028A	PDE6C	NM_006204.4(PDE6C):c.2368G>A:p.Glu790Lys	coding	Pathogenic
10	93663117	T	A	T93663117A	PDE6C	NM_006204.4(PDE6C):c.2457T>A:p.Tyr819Ter	coding	Pathogenic
10	93663126	G	A	G93663126A	PDE6C	NM_006204.4(PDE6C):c.2466G>A:p.Lys822=	coding	Benign/Likely_benign
10	93758268	T	C	T93758268C	LGI1	NM_005097.4(LGI1):c.124T>C:p.Cys42Arg	coding	Pathogenic
10	93758268	T	G	T93758268G	LGI1	NM_005097.4(LGI1):c.124T>G:p.Cys42Gly	coding	Pathogenic
10	93758280	T	C	T93758280C	LGI1	NM_005097.4(LGI1):c.136T>C:p.Cys46Arg	coding	Pathogenic
10	93758705	T	C	T93758705C	LGI1	NM_005097.4(LGI1):c.216-55T>C	noncoding	Benign/Likely_benign
10	93759118	A	G	A93759118G	LGI1	NM_005097.4(LGI1):c.287+287A>G	noncoding	Benign
10	93777137	A	G	A93777137G	LGI1	NM_005097.4(LGI1):c.288-242A>G	noncoding	Benign
10	93777543	C	A	C93777543A	LGI1	NM_005097.4(LGI1):c.360-3C>A	noncoding	Pathogenic
10	93777551	T	A	T93777551A	LGI1	NM_005097.4(LGI1):c.365T>A:p.Ile122Lys	coding	Pathogenic
10	93777572	C	G	C93777572G	LGI1	NM_005097.4(LGI1):c.386C>G:p.Ser129Ter	coding	Pathogenic
10	93777592	C	T	C93777592T	LGI1	NM_005097.4(LGI1):c.406C>T:p.Arg136Trp	coding	Pathogenic
10	93777830	C	T	C93777830T	LGI1	NM_005097.4(LGI1):c.431+213C>T	noncoding	Benign
10	93789914	A	G	A93789914G	LGI1	NM_005097.4(LGI1):c.432-185A>G	noncoding	Benign
10	93792643	C	T	C93792643T	LGI1	NM_005097.4(LGI1):c.504-100C>T	noncoding	Benign
10	93793106	G	T	G93793106T	LGI1	NM_005097.4(LGI1):c.674-80G>T	noncoding	Benign
10	93793200	C	T	C93793200T	LGI1	NM_005097.4(LGI1):c.688C>T:p.Gln230Ter	coding	Pathogenic
10	93793207	T	C	T93793207C	LGI1	NM_005097.4(LGI1):c.695T>C:p.Leu232Pro	coding	Pathogenic
10	93793256	G	A	G93793256A	LGI1	NM_005097.4(LGI1):c.744G>A:p.Glu248=	coding	Benign/Likely_benign
10	93797060	C	T	C93797060T	LGI1	NM_005097.4(LGI1):c.931C>T:p.Arg311Ter	coding	Pathogenic
10	93797082	T	G	T93797082G	LGI1	NM_005097.4(LGI1):c.953T>G:p.Phe318Cys	coding	Pathogenic
10	93797142	T	C	T93797142C	LGI1	NM_005097.4(LGI1):c.1013T>C:p.Phe338Ser	coding	Pathogenic
10	93797257	G	A	G93797257A	LGI1	NM_005097.4(LGI1):c.1128G>A:p.Trp376Ter	coding	Pathogenic
10	93797277	A	C	A93797277C	LGI1	NM_005097.4(LGI1):c.1148A>C:p.Glu383Ala	coding	Pathogenic
10	93797385	T	G	T93797385G	LGI1	NM_005097.4(LGI1):c.1256T>G:p.Leu419Ter	coding	Pathogenic
10	93797547	C	T	C93797547T	LGI1	NM_005097.4(LGI1):c.1418C>T:p.Ser473Leu	coding	Pathogenic
10	93797549	C	T	C93797549T	LGI1	NM_005097.4(LGI1):c.1420C>T:p.Arg474Ter	coding	Pathogenic
10	93994065	A	G	A93994065G	PLCE1	NM_016341.4(PLCE1):c.-558A>G	noncoding	Benign
10	93994098	T	C	T93994098C	PLCE1	NM_016341.4(PLCE1):c.-525T>C	noncoding	Benign
10	94030801	A	G	A94030801G	PLCE1	NM_016341.4(PLCE1):c.-246A>G	noncoding	Benign
10	94030912	G	A	G94030912A	PLCE1	NM_016341.4(PLCE1):c.-135G>A	noncoding	Benign
10	94031273	C	T	C94031273T	PLCE1	NM_016341.4(PLCE1):c.227C>T:p.Ala76Val	coding	Benign/Likely_benign
10	94031710	G	C	G94031710C	PLCE1	NM_016341.4(PLCE1):c.664G>C:p.Gly222Arg	coding	Benign
10	94031856	T	C	T94031856C	PLCE1	NM_016341.4(PLCE1):c.810T>C:p.Cys270=	coding	Benign
10	94032006	G	A	G94032006A	PLCE1	NM_016341.4(PLCE1):c.960G>A:p.Glu320=	coding	Benign
10	94032007	C	T	C94032007T	PLCE1	NM_016341.4(PLCE1):c.961C>T:p.Arg321Ter	coding	Pathogenic
10	94132372	T	A	T94132372A	PLCE1	NM_016341.4(PLCE1):c.1405T>A:p.Ser469Thr	coding	Benign
10	94132444	C	T	C94132444T	PLCE1	NM_016341.4(PLCE1):c.1477C>T:p.Arg493Ter	coding	Pathogenic
10	94171330	G	T	G94171330T	PLCE1	NM_016341.4(PLCE1):c.1643G>T:p.Arg548Leu	coding	Benign
10	94171416	G	A	G94171416A	PLCE1	NM_016341.4(PLCE1):c.1729G>A:p.Ala577Thr	coding	Benign
10	94234174	A	T	A94234174T	PLCE1	NM_016341.4(PLCE1):c.2076A>T:p.Thr692=	coding	Benign/Likely_benign
10	94234222	G	A	G94234222A	PLCE1	NM_016341.4(PLCE1):c.2124G>A:p.Val708=	coding	Benign
10	94236052	C	T	C94236052T	PLCE1	NM_016341.4(PLCE1):c.2352C>T:p.Asp784=	coding	Benign
10	94246583	C	T	C94246583T	PLCE1	NM_016341.4(PLCE1):c.3058C>T:p.Gln1020Ter	coding	Pathogenic
10	94246590	G	A	G94246590A	PLCE1	NM_016341.4(PLCE1):c.3065G>A:p.Trp1022Ter	coding	Pathogenic
10	94252351	C	T	C94252351T	PLCE1	NM_016341.4(PLCE1):c.3132C>T:p.His1044=	coding	Benign
10	94252510	T	C	T94252510C	PLCE1	NM_016341.4(PLCE1):c.3279+12T>C	noncoding	Benign
10	94254256	C	T	C94254256T	PLCE1	NM_016341.4(PLCE1):c.3346C>T:p.Arg1116Ter	coding	Pathogenic
10	94259072	C	T	C94259072T	PLCE1	NM_016341.4(PLCE1):c.3736C>T:p.Arg1246Ter	coding	Pathogenic
10	94265652	C	T	C94265652T	PLCE1	NM_016341.4(PLCE1):c.4059C>T:p.Phe1353=	coding	Benign
10	94265940	G	A	G94265940A	PLCE1	NM_016341.4(PLCE1):c.4263G>A:p.Ser1421=	coding	Benign
10	94270547	C	T	C94270547T	PLCE1	NM_016341.4(PLCE1):c.4451C>T:p.Ser1484Leu	coding	Pathogenic
10	94279840	G	C	G94279840C	PLCE1	NM_016341.4(PLCE1):c.4724G>C:p.Arg1575Pro	coding	Benign
10	94279849	A	G	A94279849G	PLCE1	NM_016341.4(PLCE1):c.4733A>G:p.Asn1578Ser	coding	Benign
10	94283840	C	T	C94283840T	PLCE1	NM_016341.4(PLCE1):c.4846C>T:p.Gln1616Ter	coding	Pathogenic
10	94283882	G	A	G94283882A	PLCE1	NM_016341.4(PLCE1):c.4888G>A:p.Ala1630Thr	coding	Benign
10	94284977	C	A	C94284977A	PLCE1	NM_016341.4(PLCE1):c.5035+12C>A	noncoding	Benign
10	94298541	C	T	C94298541T	PLCE1	NM_016341.4(PLCE1):c.5330C>T:p.Thr1777Ile	coding	Benign
10	94298676	G	A	G94298676A	PLCE1	NM_016341.4(PLCE1):c.5458+7G>A	noncoding	Benign
10	94304583	C	T	C94304583T	PLCE1	NM_016341.4(PLCE1):c.5560C>T:p.Gln1854Ter	coding	Pathogenic
10	94306473	C	T	C94306473T	PLCE1	NM_016341.4(PLCE1):c.5669C>T:p.Pro1890Leu	coding	Benign/Likely_benign
10	94306584	A	G	A94306584G	PLCE1	NM_016341.4(PLCE1):c.5780A>G:p.His1927Arg	coding	Benign
10	94308586	C	T	C94308586T	PLCE1	NM_016341.4(PLCE1):c.5890C>T:p.Arg1964Ter	coding	Pathogenic
10	94316738	C	G	C94316738G	PLCE1	NM_016341.4(PLCE1):c.6324C>G:p.Val2108=	coding	Benign
10	94316769	G	A	G94316769A	PLCE1	NM_016341.4(PLCE1):c.6342+13G>A	noncoding	Benign
10	94322006	C	T	C94322006T	PLCE1	NM_016341.4(PLCE1):c.6448C>T:p.Arg2150Ter	coding	Pathogenic
10	94327971	A	G	A94327971G	PLCE1	NM_016341.4(PLCE1):c.*28A>G	noncoding	Benign
10	94328109	G	C	G94328109C	PLCE1	NM_016341.4(PLCE1):c.*166G>C	noncoding	Benign
10	94328196	C	T	C94328196T	PLCE1	NM_016341.4(PLCE1):c.*253C>T	noncoding	Benign
10	94545923	T	C	T94545923C	HELLS	NM_018063.5(HELLS):c.2T>C:p.Met1Thr	coding	Benign
10	94546508	G	T	G94546508T	HELLS	NM_018063.5(HELLS):c.153+10G>T	noncoding	Benign
10	94554242	A	G	A94554242G	HELLS	NM_018063.5(HELLS):c.270A>G:p.Gln90=	coding	Benign
10	94562691	G	A	G94562691A	HELLS	NM_018063.5(HELLS):c.334G>A:p.Gly112Ser	coding	Benign
10	94562729	T	A	T94562729A	HELLS	NM_018063.5(HELLS):c.370+2T>A	noncoding	Pathogenic
10	94574092	A	T	A94574092T	HELLS	NM_018063.5(HELLS):c.610A>T:p.Lys204Ter	coding	Pathogenic
10	94576766	G	A	G94576766A	HELLS	NM_018063.5(HELLS):c.993G>A:p.Thr331=	coding	Benign
10	94576815	A	T	A94576815T	HELLS	NM_018063.5(HELLS):c.1032+10A>T	noncoding	Benign
10	94588396	G	A	G94588396A	HELLS	NM_018063.5(HELLS):c.1488+6G>A	noncoding	Benign
10	94592508	A	G	A94592508G	HELLS	NM_018063.5(HELLS):c.1965A>G:p.Glu655=	coding	Benign
10	94592514	C	T	C94592514T	HELLS	NM_018063.5(HELLS):c.1971C>T:p.Asn657=	coding	Benign
10	94593516	G	A	G94593516A	HELLS	NM_018063.5(HELLS):c.1989G>A:p.Thr663=	coding	Benign
10	94594702	A	G	A94594702G	HELLS	NM_018063.5(HELLS):c.2096A>G:p.Gln699Arg	coding	Pathogenic
10	94594724	T	C	T94594724C	HELLS	NM_018063.5(HELLS):c.2118T>C:p.Asp706=	coding	Benign
10	94694930	T	C	T94694930C	CYP2C18	NM_000772.3(CYP2C18):c.495T>C:p.Asp165=	coding	Benign
10	94706810	C	T	C94706810T	CYP2C18	NM_000772.3(CYP2C18):c.669C>T:p.Ile223=	coding	Benign
10	94720472	C	T	C94720472T	CYP2C18	NM_000772.3(CYP2C18):c.896C>T:p.Thr299Ile	coding	Benign
10	94724372	G	T	G94724372T	CYP2C18	NM_000772.3(CYP2C18):c.988G>T:p.Val330Leu	coding	Benign
10	94733326	T	C	T94733326C	CYP2C18	NM_000772.3(CYP2C18):c.1179T>C:p.Ser393=	coding	Benign
10	94735296	G	T	G94735296T	CYP2C18	NM_000772.3(CYP2C18):c.1325G>T:p.Arg442Leu	coding	Benign
10	94762804	C	T	C94762804T	CYP2C19	NM_000769.4(CYP2C19):c.99C>T:p.Pro33=	coding	Benign
10	94842866	A	G	A94842866G	CYP2C19	NM_000769.1(CYP2C19):c.991A>G:p.Ile331Val	coding	Benign
10	94947919	T	G	T94947919G	CYP2C9	NM_000771.4(CYP2C9):c.622T>G:p.Leu208Val	coding	Pathogenic
10	94949217	A	G	A94949217G	CYP2C9	NM_000771.4(CYP2C9):c.752A>G:p.His251Arg	coding	Benign
10	94988878	C	T	C94988878T	CYP2C9	NM_000771.4(CYP2C9):c.1323C>T:p.Ala441=	coding	Benign
10	95042980	G	A	G95042980A	CYP2C8	NM_000770.3(CYP2C8):c.1059C>T:p.His353=	coding	Benign
10	95058349	T	A	T95058349A	CYP2C8	CYP2C8*2	coding	Benign
10	95058362	G	C	G95058362C	CYP2C8	CYP2C8*4	coding	Benign
10	95064901	C	T	C95064901T	CYP2C8	NM_000770.3(CYP2C8):c.541G>A:p.Val181Ile	coding	Benign
10	95315104	C	T	C95315104T	SORBS1	NM_024991.3(SORBS1):c.2301G>A:p.Gln767=	coding	Benign
10	95315108	T	C	T95315108C	SORBS1	NM_024991.3(SORBS1):c.2297A>G:p.Lys766Arg	coding	Benign
10	95341279	G	C	G95341279C	SORBS1	NM_024991.3(SORBS1):c.1911+6C>G	noncoding	Benign
10	95341385	T	C	T95341385C	SORBS1	NM_024991.3(SORBS1):c.1811A>G:p.Gln604Arg	coding	Benign
10	95357740	A	G	A95357740G	SORBS1	NM_024991.3(SORBS1):c.1260T>C:p.Thr420=	coding	Benign
10	95384275	T	C	T95384275C	SORBS1	NM_024991.3(SORBS1):c.864A>G:p.Ser288=	coding	Benign
10	95432500	T	G	T95432500G	SORBS1	NM_024991.3(SORBS1):c.249A>C:p.Pro83=	coding	Benign
10	95606063	G	A	G95606063A	ALDH18A1	NM_002860.4(ALDH18A1):c.*699C>T	noncoding	Benign
10	95606151	C	T	C95606151T	ALDH18A1	NM_002860.4(ALDH18A1):c.*611G>A	noncoding	Benign
10	95606350	A	G	A95606350G	ALDH18A1	NM_002860.4(ALDH18A1):c.*412T>C	noncoding	Benign
10	95606535	T	C	T95606535C	ALDH18A1	NM_002860.4(ALDH18A1):c.*227A>G	noncoding	Benign
10	95606607	C	T	C95606607T	ALDH18A1	NM_002860.4(ALDH18A1):c.*155G>A	noncoding	Benign
10	95606622	G	A	G95606622A	ALDH18A1	NM_002860.4(ALDH18A1):c.*140C>T	noncoding	Benign
10	95606706	A	T	A95606706T	ALDH18A1	NM_002860.4(ALDH18A1):c.*56T>A	noncoding	Benign
10	95606800	G	A	G95606800A	ALDH18A1	NM_002860.4(ALDH18A1):c.2350C>T:p.His784Tyr	coding	Pathogenic
10	95606805	T	C	T95606805C	ALDH18A1	NM_002860.4(ALDH18A1):c.2345A>G:p.Tyr782Cys	coding	Pathogenic
10	95606904	C	T	C95606904T	ALDH18A1	NM_002860.4(ALDH18A1):c.2246G>A:p.Arg749Gln	coding	Pathogenic
10	95606946	G	A	G95606946A	ALDH18A1	NM_002860.4(ALDH18A1):c.2207-3C>T	noncoding	Benign/Likely_benign
10	95606989	C	T	C95606989T	ALDH18A1	NM_002860.4(ALDH18A1):c.2207-46G>A	noncoding	Benign
10	95610182	C	T	C95610182T	ALDH18A1	NM_002860.4(ALDH18A1):c.2206+15G>A	noncoding	Benign
10	95610574	T	G	T95610574G	ALDH18A1	NM_002860.4(ALDH18A1):c.2111-282A>C	noncoding	Benign
10	95611232	T	A	T95611232A	ALDH18A1	NM_002860.4(ALDH18A1):c.2110+24A>T	noncoding	Benign
10	95611365	C	T	C95611365T	ALDH18A1	NM_002860.4(ALDH18A1):c.2001G>A:p.Glu667=	coding	Benign/Likely_benign
10	95611372	C	A	C95611372A	ALDH18A1	NM_002860.4(ALDH18A1):c.1994G>T:p.Arg665Leu	coding	Pathogenic
10	95611389	G	A	G95611389A	ALDH18A1	NM_002860.4(ALDH18A1):c.1977C>T:p.Ser659=	coding	Benign
10	95613443	T	A	T95613443A	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+299A>T	noncoding	Benign
10	95613741	C	T	C95613741T	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+1G>A	noncoding	Pathogenic
10	95613755	A	G	A95613755G	ALDH18A1	NM_002860.4(ALDH18A1):c.1910T>C:p.Leu637Pro	coding	Pathogenic
10	95613997	G	A	G95613997A	ALDH18A1	NM_002860.4(ALDH18A1):c.1770C>T:p.Ser590=	coding	Benign
10	95614209	A	C	A95614209C	ALDH18A1	NM_002860.4(ALDH18A1):c.1606-48T>G	noncoding	Benign
10	95616357	G	C	G95616357C	ALDH18A1	NM_002860.4(ALDH18A1):c.1605+120C>G	noncoding	Benign
10	95616583	C	A	C95616583A	ALDH18A1	NM_002860.4(ALDH18A1):c.1499G>T:p.Gly500Val	coding	Pathogenic
10	95621123	G	A	G95621123A	ALDH18A1	NM_002860.4(ALDH18A1):c.1375C>T:p.Arg459Ter	coding	Pathogenic
10	95621169	G	A	G95621169A	ALDH18A1	NM_002860.4(ALDH18A1):c.1329C>T:p.Ile443=	coding	Benign/Likely_benign
10	95625268	A	C	A95625268C	ALDH18A1	NM_002860.4(ALDH18A1):c.1246+94T>G	noncoding	Benign
10	95625485	A	G	A95625485G	ALDH18A1	NM_002860.4(ALDH18A1):c.1153-30T>C	noncoding	Benign
10	95625735	G	A	G95625735A	ALDH18A1	NM_002860.4(ALDH18A1):c.1153-280C>T	noncoding	Benign
10	95626740	G	T	G95626740T	ALDH18A1	NM_002860.4(ALDH18A1):c.1115C>A:p.Ser372Tyr	coding	Benign
10	95627491	A	G	A95627491G	ALDH18A1	NM_002860.4(ALDH18A1):c.1029T>C:p.Ile343=	coding	Benign
10	95627773	T	G	T95627773G	ALDH18A1	NM_002860.4(ALDH18A1):c.934-187A>C	noncoding	Benign
10	95628195	C	G	C95628195G	ALDH18A1	NM_002860.4(ALDH18A1):c.933+173G>C	noncoding	Benign
10	95628405	G	A	G95628405A	ALDH18A1	NM_002860.4(ALDH18A1):c.896C>T:p.Thr299Ile	coding	Benign
10	95628822	C	T	C95628822T	ALDH18A1	NM_002860.4(ALDH18A1):c.809-330G>A	noncoding	Benign
10	95632672	A	G	A95632672G	ALDH18A1	NM_002860.4(ALDH18A1):c.808+287T>C	noncoding	Benign
10	95632807	T	C	T95632807C	ALDH18A1	NM_002860.4(ALDH18A1):c.808+152A>G	noncoding	Benign
10	95633013	G	A	G95633013A	ALDH18A1	NM_002860.4(ALDH18A1):c.754C>T:p.Arg252Ter	coding	Pathogenic
10	95633040	C	G	C95633040G	ALDH18A1	NM_002860.4(ALDH18A1):c.727G>C:p.Val243Leu	coding	Pathogenic
10	95636804	C	A	C95636804A	ALDH18A1	NM_002860.4(ALDH18A1):c.558+289G>T	noncoding	Benign
10	95637092	C	T	C95637092T	ALDH18A1	NM_002860.4(ALDH18A1):c.558+1G>A	noncoding	Pathogenic
10	95637327	C	A	C95637327A	ALDH18A1	NM_002860.4(ALDH18A1):c.413G>T:p.Arg138Leu	coding	Pathogenic
10	95637327	C	T	C95637327T	ALDH18A1	NM_002860.4(ALDH18A1):c.413G>A:p.Arg138Gln	coding	Pathogenic
10	95637328	G	A	G95637328A	ALDH18A1	NM_002860.4(ALDH18A1):c.412C>T:p.Arg138Trp	coding	Pathogenic
10	95637381	A	G	A95637381G	ALDH18A1	NM_002860.4(ALDH18A1):c.359T>C:p.Val120Ala	coding	Pathogenic
10	95637470	T	C	T95637470C	ALDH18A1	NM_002860.4(ALDH18A1):c.304-34A>G	noncoding	Benign
10	95643459	A	C	A95643459C	ALDH18A1	NM_002860.4(ALDH18A1):c.89-253T>G	noncoding	Benign
10	95643491	C	A	C95643491A	ALDH18A1	NM_002860.4(ALDH18A1):c.89-285G>T	noncoding	Benign
10	95656647	T	C	T95656647C	ALDH18A1	NM_002860.4(ALDH18A1):c.-79A>G	noncoding	Benign
10	95680349	A	G	A95680349G	TCTN3	NM_015631.6(TCTN3):c.1590+123T>C	noncoding	Benign
10	95680637	T	C	T95680637C	TCTN3	NM_015631.6(TCTN3):c.1453-28A>G	noncoding	Benign
10	95682551	T	C	T95682551C	TCTN3	NM_015631.6(TCTN3):c.1452+100A>G	noncoding	Benign
10	95682776	G	A	G95682776A	TCTN3	NM_015631.6(TCTN3):c.1327C>T:p.Gln443Ter	coding	Pathogenic
10	95683238	A	G	A95683238G	TCTN3	NM_015631.6(TCTN3):c.1204-43T>C	noncoding	Benign
10	95684564	C	T	C95684564T	TCTN3	NM_015631.6(TCTN3):c.1030G>A:p.Gly344Arg	coding	Benign/Likely_benign
10	95684846	C	T	C95684846T	TCTN3	NM_015631.6(TCTN3):c.970-222G>A	noncoding	Benign
10	95685585	C	T	C95685585T	TCTN3	NM_015631.6(TCTN3):c.940G>A:p.Gly314Arg	coding	Pathogenic
10	95685600	C	A	C95685600A	TCTN3	NM_015631.6(TCTN3):c.925G>T:p.Ala309Ser	coding	Benign
10	95685644	C	T	C95685644T	TCTN3	NM_015631.6(TCTN3):c.889-8G>A	noncoding	Benign/Likely_benign
10	95686449	G	A	G95686449A	TCTN3	NM_015631.6(TCTN3):c.888+46C>T	noncoding	Benign
10	95686506	G	A	G95686506A	TCTN3	NM_015631.6(TCTN3):c.877C>T:p.Gln293Ter	coding	Pathogenic
10	95687353	A	G	A95687353G	TCTN3	NM_015631.6(TCTN3):c.630T>C:p.Ala210=	coding	Benign
10	95687616	A	T	A95687616T	TCTN3	NM_015631.6(TCTN3):c.603T>A:p.Thr201=	coding	Benign
10	95687725	A	G	A95687725G	TCTN3	NM_015631.6(TCTN3):c.500-6T>C	noncoding	Benign/Likely_benign
10	95687730	T	A	T95687730A	TCTN3	NM_015631.6(TCTN3):c.500-11A>T	noncoding	Benign
10	95693477	C	T	C95693477T	TCTN3	NM_015631.6(TCTN3):c.257-1G>A	coding	Pathogenic
10	95693676	G	A	G95693676A	TCTN3	NM_015631.6(TCTN3):c.224C>T:p.Ala75Val	coding	Benign/Likely_benign
10	95693689	C	A	C95693689A	TCTN3	NM_015631.6(TCTN3):c.211G>T:p.Val71Leu	coding	Benign/Likely_benign
10	95693707	T	G	T95693707G	TCTN3	NM_015631.6(TCTN3):c.193A>C:p.Thr65Pro	coding	Benign
10	95693879	C	T	C95693879T	TCTN3	NM_015631.6(TCTN3):c.21G>A:p.Ala7=	coding	Benign/Likely_benign
10	95693897	C	T	C95693897T	TCTN3	NM_015631.6(TCTN3):c.3G>A:p.Met1Ile	coding	Pathogenic
10	95693946	A	C	A95693946C	TCTN3	NM_001143973.1(TCTN3):c.-47T>G	noncoding	Benign
10	95844582	G	T	G95844582T	ENTPD1	NM_001776.6(ENTPD1):c.520G>T:p.Glu174Ter	coding	Pathogenic
10	95845411	G	A	G95845411A	ENTPD1	NM_001776.6(ENTPD1):c.628G>A:p.Gly210Arg	coding	Pathogenic
10	95847509	G	A	G95847509A	ENTPD1	NM_001776.6(ENTPD1):c.877G>A:p.Val293Ile	coding	Benign
10	95847652	C	T	C95847652T	ENTPD1	NM_001776.6(ENTPD1):c.1020C>T:p.Tyr340=	coding	Benign
10	95866344	C	T	C95866344T	ENTPD1	NM_001776.6(ENTPD1):c.1494C>T:p.Ile498=	coding	Benign
10	96209840	G	A	G96209840A	BLNK	NM_013314.4(BLNK):c.744C>T:p.Ala248=	coding	Benign
10	96216739	C	G	C96216739G	BLNK	NM_013314.3(BLNK):c.526-5G>C	noncoding	Benign
10	96223879	C	A	C96223879A	BLNK	NM_013314.3(BLNK):c.472G>T:p.Ala158Ser	coding	Benign/Likely_benign
10	96224006	A	G	A96224006G	BLNK	NM_013314.4(BLNK):c.362-17T>C	noncoding	Benign
10	96227501	C	T	C96227501T	BLNK	NM_013314.3(BLNK):c.270G>A:p.Glu90=	coding	Benign
10	96227509	C	T	C96227509T	BLNK	NM_013314.3(BLNK):c.262G>A:p.Ala88Thr	coding	Benign
10	96230803	G	A	G96230803A	BLNK	NM_013314.3(BLNK):c.195C>T:p.Ser65=	coding	Benign
10	96230827	A	G	A96230827G	BLNK	NM_013314.4(BLNK):c.171T>C:p.Pro57=	coding	Benign
10	96230843	G	A	G96230843A	BLNK	NM_013314.4(BLNK):c.164-9C>T	noncoding	Benign
10	96242766	A	T	A96242766T	BLNK	NM_013314.4(BLNK):c.132T>A:p.Pro44=	coding	Benign
10	96247049	C	T	C96247049T	BLNK	NM_013314.3(BLNK):c.48G>A:p.Arg16=	coding	Benign
10	96304707	C	G	C96304707G	DNTT	NM_004088.4(DNTT):c.203+7C>G	noncoding	Benign
10	96304709	G	A	G96304709A	DNTT	NM_004088.4(DNTT):c.203+9G>A	noncoding	Benign
10	96318417	C	T	C96318417T	DNTT	NM_004088.4(DNTT):c.269C>T:p.Ala90Val	coding	Benign
10	96319378	C	T	C96319378T	DNTT	NM_004088.4(DNTT):c.495C>T:p.Asn165=	coding	Benign
10	96322710	A	G	A96322710G	DNTT	NM_004088.4(DNTT):c.732A>G:p.Glu244=	coding	Benign
10	96346034	G	A	G96346034A	OPALIN	NM_033207.5(OPALIN):c.333C>T:p.Ser111=	coding	Benign
10	96349778	C	A	C96349778A	OPALIN	NM_033207.5(OPALIN):c.121G>T:p.Ala41Ser	coding	Benign
10	96370242	G	A	G96370242A	TLL2	NM_012465.4(TLL2):c.2736C>T:p.Asn912=	coding	Benign
10	96379034	G	C	G96379034C	TLL2	NM_012465.4(TLL2):c.2253C>G:p.Phe751Leu	coding	Benign
10	96384734	C	T	C96384734T	TLL2	NM_012465.4(TLL2):c.2047G>A:p.Gly683Ser	coding	Benign
10	96395920	C	T	C96395920T	TLL2	NM_012465.4(TLL2):c.1485G>A:p.Thr495=	coding	Benign
10	96397233	C	T	C96397233T	TLL2	NM_012465.4(TLL2):c.1337G>A:p.Arg446His	coding	Benign
10	96410427	C	G	C96410427G	TLL2	NM_012465.4(TLL2):c.1096G>C:p.Gly366Arg	coding	Benign
10	96595616	G	A	G96595616A	PIK3AP1	NM_152309.3(PIK3AP1):c.2379C>T:p.Thr793=	coding	Benign
10	96602303	C	T	C96602303T	PIK3AP1	NM_152309.3(PIK3AP1):c.2337G>A:p.Val779=	coding	Benign
10	96604034	C	T	C96604034T	PIK3AP1	NM_152309.3(PIK3AP1):c.2186G>A:p.Arg729His	coding	Benign
10	96604056	G	A	G96604056A	PIK3AP1	NM_152309.3(PIK3AP1):c.2171-7C>T	noncoding	Benign
10	96609806	T	C	T96609806C	PIK3AP1	NM_152309.3(PIK3AP1):c.2076A>G:p.Gly692=	coding	Benign
10	96620487	C	T	C96620487T	PIK3AP1	NM_152309.3(PIK3AP1):c.1806G>A:p.Thr602=	coding	Benign
10	96623472	C	T	C96623472T	PIK3AP1	NM_152309.3(PIK3AP1):c.1735G>A:p.Gly579Arg	coding	Benign
10	96626726	C	T	C96626726T	PIK3AP1	NM_152309.3(PIK3AP1):c.1651G>A:p.Glu551Lys	coding	Benign
10	96626826	A	G	A96626826G	PIK3AP1	NM_152309.3(PIK3AP1):c.1551T>C:p.Asp517=	coding	Benign
10	96626871	A	G	A96626871G	PIK3AP1	NM_152309.3(PIK3AP1):c.1506T>C:p.Asp502=	coding	Benign
10	96648752	C	T	C96648752T	PIK3AP1	NM_152309.3(PIK3AP1):c.1092G>A:p.Ala364=	coding	Benign
10	96651261	T	C	T96651261C	PIK3AP1	NM_152309.3(PIK3AP1):c.975A>G:p.Glu325=	coding	Benign
10	96651375	A	G	A96651375G	PIK3AP1	NM_152309.3(PIK3AP1):c.861T>C:p.Phe287=	coding	Benign
10	96651536	G	A	G96651536A	PIK3AP1	NM_152309.3(PIK3AP1):c.828C>T:p.Ala276=	coding	Benign
10	96651597	C	T	C96651597T	PIK3AP1	NM_152309.3(PIK3AP1):c.767G>A:p.Cys256Tyr	coding	Benign
10	96656894	G	A	G96656894A	PIK3AP1	NM_152309.3(PIK3AP1):c.471C>T:p.Asp157=	coding	Benign
10	96709610	C	T	C96709610T	PIK3AP1	NM_152309.3(PIK3AP1):c.387G>A:p.Glu129=	coding	Benign
10	96709977	G	A	G96709977A	PIK3AP1	NM_152309.3(PIK3AP1):c.20C>T:p.Pro7Leu	coding	Benign
10	97014161	G	T	G97014161T	SLIT1	NM_003061.3(SLIT1):c.2970-3C>A	noncoding	Benign
10	97014165	G	A	G97014165A	SLIT1	NM_003061.3(SLIT1):c.2970-7C>T	noncoding	Benign
10	97048989	G	T	G97048989T	SLIT1	NM_003061.3(SLIT1):c.1431C>A:p.Ile477=	coding	Benign
10	97064206	G	T	G97064206T	SLIT1	NM_003061.3(SLIT1):c.591C>A:p.Pro197=	coding	Benign
10	97334207	G	A	G97334207A	FRAT2	NM_012083.3(FRAT2):c.366C>T:p.Arg122=	coding	Benign
10	97334326	C	T	C97334326T	FRAT2	NM_012083.3(FRAT2):c.247G>A:p.Ala83Thr	coding	Benign
10	97370998	G	A	G97370998A	RRP12	NM_015179.4(RRP12):c.2427C>T:p.Phe809=	coding	Benign
10	97380819	C	T	C97380819T	RRP12	NM_015179.4(RRP12):c.1513G>A:p.Ala505Thr	coding	Benign
10	97426321	A	G	A97426321G	PGAM1	NM_002629.4(PGAM1):c.14A>G:p.Lys5Arg	coding	Benign
10	97430536	T	C	T97430536C	PGAM1	NM_002629.4(PGAM1):c.297T>C:p.Asn99=	coding	Benign
10	97430996	C	T	C97430996T	PGAM1	NM_002629.4(PGAM1):c.456C>T:p.Ser152=	coding	Benign
10	97467576	T	G	T97467576G	MMS19	NM_022362.5(MMS19):c.1226A>C:p.Gln409Pro	coding	Benign
10	97572466	C	G	C97572466G	ANKRD2	NM_001291218.1(ANKRD2):c.17C>G:p.Pro6Arg	coding	Benign
10	97578505	C	T	C97578505T	ANKRD2	NM_001346793.2(ANKRD2):c.356C>T:p.Pro119Leu	coding	Benign
10	97583578	A	G	A97583578G	ANKRD2	NM_001346793.2(ANKRD2):c.855A>G:p.Ala285=	coding	Benign
10	97584425	G	A	G97584425A	HOGA1	NM_138413.4(HOGA1):c.-279G>A	noncoding	Benign
10	97584778	G	A	G97584778A	HOGA1	NM_138413.4(HOGA1):c.75G>A:p.Trp25Ter	coding	Pathogenic
10	97584820	C	A	C97584820A	HOGA1	NM_138413.4(HOGA1):c.117C>A:p.Tyr39Ter	coding	Pathogenic
10	97584837	C	T	C97584837T	HOGA1	NM_138413.4(HOGA1):c.134C>T:p.Pro45Leu	coding	Pathogenic
10	97584912	G	C	G97584912C	HOGA1	NM_138413.4(HOGA1):c.209G>C:p.Arg70Pro	coding	Pathogenic
10	97598871	A	T	A97598871T	HOGA1	NM_138413.4(HOGA1):c.308A>T:p.Asn103Ile	coding	Pathogenic
10	97599094	C	T	C97599094T	HOGA1	NM_138413.4(HOGA1):c.346C>T:p.Gln116Ter	coding	Pathogenic
10	97599144	G	A	G97599144A	HOGA1	NM_138413.4(HOGA1):c.396G>A:p.Ala132=	coding	Benign
10	97599744	T	C	T97599744C	HOGA1	NM_138413.4(HOGA1):c.533T>C:p.Leu178Pro	coding	Pathogenic
10	97600167	G	T	G97600167T	HOGA1	NM_138413.4(HOGA1):c.700+4G>T	noncoding	Pathogenic
10	97600168	G	T	G97600168T	HOGA1	NM_138413.4(HOGA1):c.700+5G>T	noncoding	Pathogenic
10	97600170	C	T	C97600170T	HOGA1	NM_138413.4(HOGA1):c.700+7C>T	noncoding	Benign/Likely_benign
10	97601871	G	A	G97601871A	HOGA1	NM_138413.4(HOGA1):c.715G>A:p.Val239Ile	coding	Benign
10	97601884	C	A	C97601884A	HOGA1	NM_138413.4(HOGA1):c.728C>A:p.Ala243Asp	coding	Pathogenic
10	97601889	G	A	G97601889A	HOGA1	NM_138413.4(HOGA1):c.733G>A:p.Val245Ile	coding	Pathogenic
10	97601919	C	T	C97601919T	HOGA1	NM_138413.4(HOGA1):c.763C>T:p.Arg255Ter	coding	Pathogenic
10	97601925	T	G	T97601925G	HOGA1	NM_138413.4(HOGA1):c.769T>G:p.Cys257Gly	coding	Pathogenic/Likely_pathogenic
10	97601933	G	A	G97601933A	HOGA1	NM_138413.4(HOGA1):c.777G>A:p.Thr259=	coding	Benign
10	97601990	G	A	G97601990A	HOGA1	NM_138413.4(HOGA1):c.834G>A:p.Ala278=	coding	Pathogenic
10	97611514	C	T	C97611514T	HOGA1	NM_138413.4(HOGA1):c.839C>T:p.Thr280Ile	coding	Pathogenic
10	97611535	G	T	G97611535T	HOGA1	NM_138413.4(HOGA1):c.860G>T:p.Gly287Val	coding	Pathogenic/Likely_pathogenic
10	97611550	T	C	T97611550C	HOGA1	NM_138413.4(HOGA1):c.875T>C:p.Met292Thr	coding	Pathogenic
10	97611582	C	T	C97611582T	HOGA1	NM_138413.4(HOGA1):c.907C>T:p.Arg303Cys	coding	Pathogenic
10	97611587	C	A	C97611587A	HOGA1	NM_138413.4(HOGA1):c.912C>A:p.Ala304=	coding	Benign
10	97611648	G	A	G97611648A	HOGA1	NM_138413.4(HOGA1):c.973G>A:p.Gly325Ser	coding	Pathogenic
10	97611753	C	T	C97611753T	HOGA1	NM_138413.4(HOGA1):c.*94C>T	noncoding	Benign
10	97611972	A	C	A97611972C	HOGA1	NM_138413.4(HOGA1):c.*313A>C	noncoding	Benign
10	97612014	C	T	C97612014T	HOGA1	NM_138413.4(HOGA1):c.*355C>T	noncoding	Benign
10	97612370	G	A	G97612370A	HOGA1	NM_138413.4(HOGA1):c.*711G>A	noncoding	Benign
10	97738477	G	A	G97738477A	ZFYVE27	NM_144588.7(ZFYVE27):c.-1G>A	noncoding	Benign
10	97738509	C	T	C97738509T	ZFYVE27	NM_144588.7(ZFYVE27):c.32C>T:p.Pro11Leu	coding	Benign
10	97738539	C	T	C97738539T	ZFYVE27	NM_144588.7(ZFYVE27):c.62C>T:p.Ala21Val	coding	Benign/Likely_benign
10	97738556	C	G	C97738556G	ZFYVE27	NM_144588.7(ZFYVE27):c.79C>G:p.Pro27Ala	coding	Benign
10	97738603	C	T	C97738603T	ZFYVE27	NM_144588.7(ZFYVE27):c.126C>T:p.Leu42=	coding	Benign
10	97743134	C	T	C97743134T	ZFYVE27	NM_144588.7(ZFYVE27):c.238C>T:p.Leu80Phe	coding	Benign
10	97743140	G	A	G97743140A	ZFYVE27	NM_144588.7(ZFYVE27):c.244G>A:p.Val82Ile	coding	Benign
10	97744838	G	A	G97744838A	ZFYVE27	NM_144588.7(ZFYVE27):c.378G>A:p.Lys126=	coding	Benign
10	97744873	G	T	G97744873T	ZFYVE27	NM_144588.7(ZFYVE27):c.413G>T:p.Gly138Val	coding	Benign
10	97744884	C	T	C97744884T	ZFYVE27	NM_144588.7(ZFYVE27):c.424C>T:p.Arg142Cys	coding	Benign/Likely_benign
10	97748257	C	T	C97748257T	ZFYVE27	NM_144588.7(ZFYVE27):c.456-12C>T	noncoding	Benign
10	97748329	C	T	C97748329T	ZFYVE27	NM_144588.7(ZFYVE27):c.516C>T:p.Arg172=	coding	Benign
10	97748335	G	A	G97748335A	ZFYVE27	NM_144588.7(ZFYVE27):c.522G>A:p.Leu174=	coding	Benign/Likely_benign
10	97748378	C	T	C97748378T	ZFYVE27	NM_144588.7(ZFYVE27):c.551+14C>T	noncoding	Benign
10	97751477	C	T	C97751477T	ZFYVE27	NM_144588.7(ZFYVE27):c.876+15C>T	noncoding	Benign
10	97757314	G	A	G97757314A	ZFYVE27	NM_144588.7(ZFYVE27):c.1089+3G>A	noncoding	Benign
10	97759340	A	G	A97759340G	ZFYVE27	NM_144588.7(ZFYVE27):c.*40A>G	noncoding	Benign
10	97759432	C	T	C97759432T	ZFYVE27	NM_144588.7(ZFYVE27):c.*132C>T	noncoding	Benign
10	97759463	C	G	C97759463G	ZFYVE27	NM_144588.7(ZFYVE27):c.*163C>G	noncoding	Benign
10	97759463	C	T	C97759463T	ZFYVE27	NM_144588.7(ZFYVE27):c.*163C>T	noncoding	Benign
10	97759548	T	C	T97759548C	ZFYVE27	NM_144588.7(ZFYVE27):c.*248T>C	noncoding	Benign
10	97759667	G	A	G97759667A	ZFYVE27	NM_144588.7(ZFYVE27):c.*367G>A	noncoding	Benign
10	97759713	C	T	C97759713T	ZFYVE27	NM_144588.7(ZFYVE27):c.*413C>T	noncoding	Benign
10	97759800	C	T	C97759800T	ZFYVE27	NM_144588.7(ZFYVE27):c.*500C>T	noncoding	Benign
10	97759996	G	A	G97759996A	ZFYVE27	NM_144588.7(ZFYVE27):c.*696G>A	noncoding	Benign
10	97760033	A	G	A97760033G	ZFYVE27	NM_144588.7(ZFYVE27):c.*733A>G	noncoding	Benign
10	97760078	C	T	C97760078T	ZFYVE27	NM_144588.7(ZFYVE27):c.*778C>T	noncoding	Benign
10	97760194	G	C	G97760194C	ZFYVE27	NM_144588.7(ZFYVE27):c.*894G>C	noncoding	Benign
10	97760283	A	G	A97760283G	ZFYVE27	NM_144588.7(ZFYVE27):c.*983A>G	noncoding	Benign
10	97760450	C	T	C97760450T	ZFYVE27	NM_144588.7(ZFYVE27):c.*1150C>T	noncoding	Benign
10	97760608	A	C	A97760608C	ZFYVE27	NM_144588.7(ZFYVE27):c.*1308A>C	noncoding	Benign
10	97760610	T	C	T97760610C	ZFYVE27	NM_144588.7(ZFYVE27):c.*1310T>C	noncoding	Benign
10	97760679	G	A	G97760679A	ZFYVE27	NM_144588.7(ZFYVE27):c.*1379G>A	noncoding	Benign
10	97760817	G	C	G97760817C	ZFYVE27	NM_144588.7(ZFYVE27):c.*1517G>C	noncoding	Benign
10	97767816	G	A	G97767816A	SFRP5	NM_003015.3(SFRP5):c.652C>T:p.Arg218Trp	coding	Benign
10	98416238	G	T	G98416238T	HPS1	NM_000195.5(HPS1):c.*1326C>A	noncoding	Benign
10	98416347	A	G	A98416347G	HPS1	NM_000195.5(HPS1):c.*1217T>C	noncoding	Benign
10	98416349	G	A	G98416349A	HPS1	NM_000195.5(HPS1):c.*1215C>T	noncoding	Benign
10	98416397	C	T	C98416397T	HPS1	NM_000195.5(HPS1):c.*1167G>A	noncoding	Benign
10	98416582	A	G	A98416582G	HPS1	NM_000195.5(HPS1):c.*982T>C	noncoding	Benign
10	98416609	T	C	T98416609C	HPS1	NM_000195.5(HPS1):c.*955A>G	noncoding	Benign
10	98416648	C	T	C98416648T	HPS1	NM_000195.5(HPS1):c.*916G>A	noncoding	Benign
10	98416858	G	C	G98416858C	HPS1	NM_000195.5(HPS1):c.*706C>G	noncoding	Benign
10	98416870	G	A	G98416870A	HPS1	NM_000195.5(HPS1):c.*694C>T	noncoding	Benign
10	98417091	C	T	C98417091T	HPS1	NM_000195.5(HPS1):c.*473G>A	noncoding	Benign
10	98417104	G	A	G98417104A	HPS1	NM_000195.5(HPS1):c.*460C>T	noncoding	Benign
10	98417112	C	T	C98417112T	HPS1	NM_000195.5(HPS1):c.*452G>A	noncoding	Benign
10	98417240	A	G	A98417240G	HPS1	NM_000195.5(HPS1):c.*324T>C	noncoding	Benign
10	98417292	G	A	G98417292A	HPS1	NM_000195.5(HPS1):c.*272C>T	noncoding	Benign
10	98417552	G	A	G98417552A	HPS1	NM_000195.5(HPS1):c.*12C>T	noncoding	Benign/Likely_benign
10	98417615	G	A	G98417615A	HPS1	NM_000195.5(HPS1):c.2052C>T:p.Ala684=	coding	Benign/Likely_benign
10	98417664	A	G	A98417664G	HPS1	NM_000195.5(HPS1):c.2003T>C:p.Leu668Pro	coding	Pathogenic
10	98420094	T	C	T98420094C	HPS1	NM_000195.5(HPS1):c.1808A>G:p.Gln603Arg	coding	Benign
10	98420095	G	A	G98420095A	HPS1	NM_000195.5(HPS1):c.1807C>T:p.Gln603Ter	coding	Pathogenic
10	98420135	C	T	C98420135T	HPS1	NM_000195.5(HPS1):c.1767G>A:p.Ala589=	coding	Benign
10	98420153	C	T	C98420153T	HPS1	NM_000195.5(HPS1):c.1749G>A:p.Trp583Ter	coding	Pathogenic
10	98422414	C	T	C98422414T	HPS1	NM_000195.5(HPS1):c.1698G>A:p.Ser566=	coding	Benign
10	98422429	G	A	G98422429A	HPS1	NM_000195.5(HPS1):c.1683C>T:p.Cys561=	coding	Benign/Likely_benign
10	98422455	G	A	G98422455A	HPS1	NM_000195.5(HPS1):c.1657C>T:p.Gln553Ter	coding	Pathogenic
10	98422528	T	C	T98422528C	HPS1	NM_000195.5(HPS1):c.1599-15A>G	noncoding	Benign
10	98423748	C	T	C98423748T	HPS1	NM_000195.5(HPS1):c.1532+5G>A	noncoding	Benign
10	98423758	G	C	G98423758C	HPS1	NM_000195.5(HPS1):c.1527C>G:p.Leu509=	coding	Benign
10	98423813	G	C	G98423813C	HPS1	NM_000195.5(HPS1):c.1472C>G:p.Pro491Arg	coding	Benign
10	98423848	G	T	G98423848T	HPS1	NM_000195.5(HPS1):c.1437C>A:p.Cys479Ter	coding	Pathogenic
10	98424305	C	A	C98424305A	HPS1	NM_000195.5(HPS1):c.1397+8G>T	noncoding	Benign
10	98424306	C	G	C98424306G	HPS1	NM_000195.5(HPS1):c.1397+7G>C	noncoding	Benign
10	98425493	C	T	C98425493T	HPS1	NM_000195.5(HPS1):c.1335+48G>A	noncoding	Benign
10	98427202	A	G	A98427202G	HPS1	NM_000195.5(HPS1):c.987+13T>C	noncoding	Benign
10	98427250	G	C	G98427250C	HPS1	NM_000195.5(HPS1):c.952C>G:p.Leu318Val	coding	Benign/Likely_benign
10	98429810	C	G	C98429810G	HPS1	NM_000195.5(HPS1):c.848G>C:p.Gly283Ala	coding	Benign/Likely_benign
10	98429811	C	A	C98429811A	HPS1	NM_000195.5(HPS1):c.847G>T:p.Gly283Trp	coding	Benign
10	98429879	C	T	C98429879T	HPS1	NM_000195.5(HPS1):c.779G>A:p.Arg260Gln	coding	Benign
10	98430623	A	G	A98430623G	HPS1	NM_000195.5(HPS1):c.716T>C:p.Leu239Pro	coding	Pathogenic
10	98430661	G	A	G98430661A	HPS1	NM_000195.5(HPS1):c.678C>T:p.Ala226=	coding	Benign/Likely_benign
10	98431163	G	A	G98431163A	HPS1	NM_000195.5(HPS1):c.636C>T:p.Leu212=	coding	Benign
10	98431202	G	A	G98431202A	HPS1	NM_000195.5(HPS1):c.597C>T:p.Pro199=	coding	Benign
10	98431242	G	A	G98431242A	HPS1	NM_000195.5(HPS1):c.557C>T:p.Ala186Val	coding	Benign/Likely_benign
10	98431282	G	A	G98431282A	HPS1	NM_000195.5(HPS1):c.517C>T:p.Arg173Ter	coding	Pathogenic
10	98434012	G	A	G98434012A	HPS1	NM_000195.5(HPS1):c.478C>T:p.Arg160Trp	coding	Benign/Likely_benign
10	98434126	C	T	C98434126T	HPS1	NM_000195.5(HPS1):c.399-35G>A	noncoding	Benign
10	98435267	C	T	C98435267T	HPS1	NM_000195.5(HPS1):c.398+5G>A	noncoding	Pathogenic
10	98435270	A	G	A98435270G	HPS1	NM_000195.5(HPS1):c.398+2T>C	noncoding	Pathogenic
10	98435273	C	A	C98435273A	HPS1	NM_000195.5(HPS1):c.397G>T:p.Glu133Ter	coding	Pathogenic
10	98435279	G	A	G98435279A	HPS1	NM_000195.5(HPS1):c.391C>T:p.Arg131Ter	coding	Pathogenic
10	98435373	G	A	G98435373A	HPS1	NM_000195.5(HPS1):c.297C>T:p.Thr99=	coding	Benign
10	98435626	T	C	T98435626C	HPS1	NM_000195.5(HPS1):c.255+9A>G	noncoding	Benign
10	98435703	C	A	C98435703A	HPS1	NM_000195.5(HPS1):c.187G>T:p.Glu63Ter	coding	Pathogenic
10	98435731	C	T	C98435731T	HPS1	NM_000195.5(HPS1):c.159G>A:p.Pro53=	coding	Benign
10	98443214	C	G	C98443214G	HPS1	NM_000195.5(HPS1):c.27G>C:p.Glu9Asp	coding	Benign
10	98443230	A	G	A98443230G	HPS1	NM_000195.5(HPS1):c.11T>C:p.Val4Ala	coding	Benign/Likely_benign
10	98445350	G	T	G98445350T	HPS1	NM_000195.5(HPS1):c.-51C>A	noncoding	Benign
10	98445413	G	A	G98445413A	HPS1	NM_000195.5(HPS1):c.-105-9C>T	noncoding	Benign
10	98459617	T	A	T98459617A	HPSE2	NM_021828.5(HPSE2):c.1736A>T:p.Tyr579Phe	coding	Benign
10	98459649	T	C	T98459649C	HPSE2	NM_021828.5(HPSE2):c.1704A>G:p.Thr568=	coding	Benign
10	98459725	T	A	T98459725A	HPSE2	NM_001166246.1(HPSE2):c.*51A>T	coding	Pathogenic
10	98459735	C	G	C98459735G	HPSE2	NM_021828.5(HPSE2):c.1618G>C:p.Val540Leu	coding	Benign
10	98482733	G	A	G98482733A	HPSE2	NM_021828.4(HPSE2):c.1516C>T:p.Arg506Ter	coding	Pathogenic
10	98482773	G	A	G98482773A	HPSE2	NM_021828.5(HPSE2):c.1476C>T:p.Tyr492=	coding	Benign
10	98490103	G	A	G98490103A	HPSE2	NM_021828.4(HPSE2):c.1414C>T:p.Arg472Ter	coding	Pathogenic
10	98620613	A	G	A98620613G	HPSE2	NM_021828.5(HPSE2):c.1194T>C:p.Ala398=	coding	Benign
10	98721670	C	T	C98721670T	HPSE2	NM_021828.4(HPSE2):c.943G>A:p.Ala315Thr	coding	Benign/Likely_benign
10	99144275	C	T	C99144275T	HPSE2	NM_021828.5(HPSE2):c.573G>A:p.Glu191=	coding	Benign
10	99144391	G	A	G99144391A	HPSE2	NM_001166245.1(HPSE2):c.448+87957C>T	coding	Pathogenic
10	99235506	G	A	G99235506A	HPSE2	NM_021828.5(HPSE2):c.290+7C>T	noncoding	Benign
10	99235530	G	T	G99235530T	HPSE2	NM_021828.5(HPSE2):c.273C>A:p.Gly91=	coding	Benign
10	99403879	G	A	G99403879A	GOT1	NM_002079.3(GOT1):c.643-5C>T	noncoding	Benign
10	99405850	T	C	T99405850C	GOT1	NM_002079.3(GOT1):c.548A>G:p.Glu183Gly	coding	Benign
10	99709848	G	A	G99709848A	COX15	NM_020354.5(ENTPD7):c.*5165G>A	noncoding	Benign
10	99710146	T	G	T99710146G	COX15	NM_020354.5(ENTPD7):c.*5463T>G	noncoding	Benign
10	99711170	A	G	A99711170G	COX15	NM_078470.6(COX15):c.*3417T>C	noncoding	Benign
10	99711938	C	T	C99711938T	COX15	NM_078470.6(COX15):c.*2649G>A	noncoding	Benign
10	99713461	A	G	A99713461G	COX15	NM_078470.6(COX15):c.*1126T>C	coding	Benign
10	99714611	A	G	A99714611G	COX15	NM_078470.6(COX15):c.1209T>C:p.Asn403=	coding	Benign
10	99716423	G	A	G99716423A	COX15	NM_078470.6(COX15):c.1026C>T:p.Phe342=	coding	Benign/Likely_benign
10	99720793	T	G	T99720793G	COX15	NM_078470.6(COX15):c.832+194A>C	noncoding	Benign
10	99724042	G	A	G99724042A	COX15	NM_078470.6(COX15):c.664C>T:p.Arg222Cys	coding	Benign/Likely_benign
10	99724057	G	A	G99724057A	COX15	NM_078470.6(COX15):c.649C>T:p.Arg217Trp	coding	Pathogenic
10	99727002	C	T	C99727002T	COX15	NM_078470.6(COX15):c.548G>A:p.Arg183His	coding	Benign/Likely_benign
10	99727344	C	T	C99727344T	COX15	NM_078470.6(COX15):c.395+97G>A	noncoding	Benign
10	99731944	C	T	C99731944T	COX15	NM_078470.6(COX15):c.90+16G>A	noncoding	Benign
10	99732484	G	A	G99732484A	COX15	NM_015960.3(CUTC):c.61+75G>A	coding	Benign
10	99732646	T	G	T99732646G	COX15	NM_015960.3(CUTC):c.61+237T>G	coding	Benign
10	99782821	C	T	C99782821T	ABCC2	NM_000392.5(ABCC2):c.-24C>T	noncoding	Benign
10	99782822	G	A	G99782822A	ABCC2	NM_000392.5(ABCC2):c.-23G>A	noncoding	Benign
10	99784690	A	T	A99784690T	ABCC2	NM_000392.5(ABCC2):c.116A>T:p.Tyr39Phe	coding	Benign
10	99784730	T	A	T99784730A	ABCC2	NM_000392.5(ABCC2):c.156T>A:p.Tyr52Ter	coding	Pathogenic
10	99784733	A	G	A99784733G	ABCC2	NM_000392.5(ABCC2):c.159A>G:p.Lys53=	coding	Benign/Likely_benign
10	99784782	G	A	G99784782A	ABCC2	NM_000392.5(ABCC2):c.207+1G>A	coding	Pathogenic
10	99797339	T	C	T99797339C	ABCC2	NM_000392.5(ABCC2):c.867+8T>C	noncoding	Benign
10	99799313	C	G	C99799313G	ABCC2	NM_000392.5(ABCC2):c.974C>G:p.Ser325Ter	coding	Pathogenic
10	99800412	G	A	G99800412A	ABCC2	NM_000392.5(ABCC2):c.1058G>A:p.Arg353His	coding	Benign/Likely_benign
10	99804028	C	T	C99804028T	ABCC2	NM_000392.5(ABCC2):c.1219C>T:p.Leu407=	coding	Benign
10	99804058	G	A	G99804058A	ABCC2	NM_000392.5(ABCC2):c.1249G>A:p.Val417Ile	coding	Benign
10	99804255	C	G	C99804255G	ABCC2	NM_000392.5(ABCC2):c.1446C>G:p.Thr482=	coding	Benign
10	99805400	A	G	A99805400G	ABCC2	NM_000392.5(ABCC2):c.1483A>G:p.Lys495Glu	coding	Benign
10	99807504	C	T	C99807504T	ABCC2	NM_000392.5(ABCC2):c.1651C>T:p.Gln551Ter	coding	Pathogenic
10	99808231	T	A	T99808231A	ABCC2	NM_000392.5(ABCC2):c.1815+2T>A	noncoding	Pathogenic
10	99808233	G	A	G99808233A	ABCC2	NM_000392.5(ABCC2):c.1815+4G>A	noncoding	Benign
10	99810211	C	A	C99810211A	ABCC2	NM_000392.5(ABCC2):c.1893C>A:p.Cys631Ter	coding	Pathogenic
10	99811604	T	C	T99811604C	ABCC2	NM_000392.5(ABCC2):c.1967+2T>C	noncoding	Pathogenic
10	99813017	G	C	G99813017C	ABCC2	NM_000392.5(ABCC2):c.1968-1G>C	noncoding	Pathogenic
10	99817302	A	G	A99817302G	ABCC2	NM_000392.5(ABCC2):c.2095-6A>G	noncoding	Benign
10	99817338	T	C	T99817338C	ABCC2	NM_000392.5(ABCC2):c.2125T>C:p.Trp709Arg	coding	Pathogenic
10	99818820	C	T	C99818820T	ABCC2	NM_000392.5(ABCC2):c.2302C>T:p.Arg768Trp	coding	Pathogenic/Likely_pathogenic
10	99819092	C	T	C99819092T	ABCC2	NM_000392.5(ABCC2):c.2443C>T:p.Arg815Ter	coding	Pathogenic
10	99819195	T	G	T99819195G	ABCC2	NM_000392.5(ABCC2):c.2546T>G:p.Leu849Arg	coding	Benign
10	99830729	G	A	G99830729A	ABCC2	NM_000392.5(ABCC2):c.2761G>A:p.Gly921Ser	coding	Benign
10	99830862	C	T	C99830862T	ABCC2	NM_000392.5(ABCC2):c.2883+11C>T	noncoding	Benign
10	99831628	C	A	C99831628A	ABCC2	NM_000392.5(ABCC2):c.2901C>A:p.Tyr967Ter	coding	Pathogenic
10	99831661	G	A	G99831661A	ABCC2	NM_000392.5(ABCC2):c.2934G>A:p.Ser978=	coding	Benign
10	99831753	T	C	T99831753C	ABCC2	NM_000392.5(ABCC2):c.3026T>C:p.Ile1009Thr	coding	Benign
10	99831980	T	C	T99831980C	ABCC2	NM_000392.5(ABCC2):c.3107T>C:p.Ile1036Thr	coding	Benign/Likely_benign
10	99832069	C	T	C99832069T	ABCC2	NM_000392.5(ABCC2):c.3196C>T:p.Arg1066Ter	coding	Pathogenic/Likely_pathogenic
10	99832132	G	A	G99832132A	ABCC2	NM_000392.5(ABCC2):c.3258+1G>A	coding	Pathogenic
10	99834517	T	C	T99834517C	ABCC2	NM_000392.5(ABCC2):c.3396T>C:p.Ile1132=	coding	Benign
10	99836125	G	A	G99836125A	ABCC2	NM_000392.5(ABCC2):c.3449G>A:p.Arg1150His	coding	Pathogenic
10	99836193	A	T	A99836193T	ABCC2	NM_000392.5(ABCC2):c.3517A>T:p.Ile1173Phe	coding	Pathogenic
10	99836214	C	T	C99836214T	ABCC2	NM_000392.5(ABCC2):c.3538C>T:p.Gln1180Ter	coding	Pathogenic
10	99836218	G	T	G99836218T	ABCC2	NM_000392.5(ABCC2):c.3542G>T:p.Arg1181Leu	coding	Benign/Likely_benign
10	99836239	T	A	T99836239A	ABCC2	NM_000392.5(ABCC2):c.3563T>A:p.Val1188Glu	coding	Benign
10	99836256	C	T	C99836256T	ABCC2	NM_000392.5(ABCC2):c.3580C>T:p.Gln1194Ter	coding	Pathogenic
10	99836275	G	A	G99836275A	ABCC2	NM_000392.5(ABCC2):c.3599G>A:p.Trp1200Ter	coding	Pathogenic
10	99842094	G	A	G99842094A	ABCC2	NM_000392.5(ABCC2):c.3741+1G>A	coding	Pathogenic
10	99842094	G	T	G99842094T	ABCC2	NM_000392.5(ABCC2):c.3741+1G>T	coding	Pathogenic
10	99843868	C	T	C99843868T	ABCC2	NM_000392.5(ABCC2):c.3811C>T:p.Arg1271Ter	coding	Pathogenic
10	99843874	A	G	A99843874G	ABCC2	NM_000392.5(ABCC2):c.3817A>G:p.Thr1273Ala	coding	Benign/Likely_benign
10	99844329	G	A	G99844329A	ABCC2	NM_000392.5(ABCC2):c.3851G>A:p.Trp1284Ter	coding	Pathogenic
10	99844350	C	T	C99844350T	ABCC2	NM_000392.5(ABCC2):c.3872C>T:p.Pro1291Leu	coding	Benign
10	99844450	C	T	C99844450T	ABCC2	NM_000392.5(ABCC2):c.3972C>T:p.Ile1324=	coding	Benign
10	99845698	C	T	C99845698T	ABCC2	NM_000392.5(ABCC2):c.4062C>T:p.Ala1354=	coding	Benign/Likely_benign
10	99845746	C	T	C99845746T	ABCC2	NM_000392.5(ABCC2):c.4110C>T:p.Leu1370=	coding	Benign
10	99845781	A	G	A99845781G	ABCC2	NM_000392.5(ABCC2):c.4145A>G:p.Gln1382Arg	coding	Pathogenic
10	99845793	G	C	G99845793C	ABCC2	NM_000392.5(ABCC2):c.4146+11G>C	noncoding	Benign
10	99847060	A	T	A99847060T	ABCC2	NM_000392.5(ABCC2):c.4246A>T:p.Lys1416Ter	coding	Pathogenic
10	99847104	G	T	G99847104T	ABCC2	NM_000392.5(ABCC2):c.4290G>T:p.Val1430=	coding	Benign
10	99850698	G	A	G99850698A	ABCC2	NM_000392.5(ABCC2):c.4410G>A:p.Glu1470=	coding	Benign
10	99850776	C	T	C99850776T	ABCC2	NM_000392.5(ABCC2):c.4488C>T:p.His1496=	coding	Benign
10	99850808	G	A	G99850808A	ABCC2	NM_000392.5(ABCC2):c.4508+12G>A	noncoding	Benign
10	99851493	T	C	T99851493C	ABCC2	NM_000392.5(ABCC2):c.4509-9T>C	noncoding	Benign/Likely_benign
10	99851520	C	T	C99851520T	ABCC2	NM_000392.5(ABCC2):c.4527C>T:p.Asn1509=	coding	Benign
10	99851537	G	A	G99851537A	ABCC2	NM_000392.5(ABCC2):c.4544G>A:p.Cys1515Tyr	coding	Benign
10	99851561	A	C	A99851561C	ABCC2	NM_000392.5(ABCC2):c.4568A>C:p.Gln1523Pro	coding	Benign
10	99851832	C	T	C99851832T	ABCC2	NM_000392.5(ABCC2):c.*201C>T	noncoding	Benign
10	99956663	G	A	G99956663A	DNMBP	NM_015221.4(DNMBP):c.811C>T:p.Arg271Ter	coding	Pathogenic
10	100065200	C	T	C100065200T	CPN1	NM_001308.3(CPN1):c.747G>A:p.Lys249=	coding	Benign
10	100069757	C	T	C100069757T	CPN1	NM_001308.3(CPN1):c.533G>A:p.Gly178Asp	coding	Benign
10	100154922	G	A	G100154922A	ERLIN1	NM_006459.4(ERLIN1):c.763C>T:p.Arg255Ter	coding	Pathogenic
10	100176006	G	A	G100176006A	ERLIN1	NM_006459.4(ERLIN1):c.369C>T:p.His123=	coding	Benign
10	100178156	A	G	A100178156G	ERLIN1	NM_006459.4(ERLIN1):c.281T>C:p.Val94Ala	coding	Pathogenic
10	100178161	T	C	T100178161C	ERLIN1	NM_006459.4(ERLIN1):c.276A>G:p.Glu92=	coding	Benign
10	100183802	C	A	C100183802A	ERLIN1	NM_006459.4(ERLIN1):c.149G>T:p.Gly50Val	coding	Pathogenic
10	100204510	C	T	C100204510T	CHUK	NM_001278.5(CHUK):c.1503G>A:p.Gly501=	coding	Benign
10	100205090	T	C	T100205090C	CHUK	NM_001278.5(CHUK):c.1341A>G:p.Gly447=	coding	Benign
10	100205167	G	A	G100205167A	CHUK	NM_001278.5(CHUK):c.1264C>T:p.Gln422Ter	coding	Pathogenic
10	100219085	A	G	A100219085G	CHUK	NM_001278.5(CHUK):c.612T>C:p.Tyr204=	coding	Benign
10	100233267	C	T	C100233267T	CWF19L1	NM_018294.6(CWF19L1):c.1577G>A:p.Arg526Gln	coding	Benign
10	100233333	T	A	T100233333A	CWF19L1	NM_018294.6(CWF19L1):c.1511A>T:p.Asp504Val	coding	Benign
10	100235744	T	G	T100235744G	CWF19L1	NM_018294.6(CWF19L1):c.1395A>C:p.Ala465=	coding	Benign
10	100236842	T	C	T100236842C	CWF19L1	NM_018294.6(CWF19L1):c.1374+8A>G	noncoding	Benign
10	100238162	G	A	G100238162A	CWF19L1	NM_018294.6(CWF19L1):c.1114C>T:p.Gln372Ter	coding	Pathogenic
10	100243783	T	C	T100243783C	CWF19L1	NM_018294.6(CWF19L1):c.965-6A>G	noncoding	Benign
10	100245798	C	T	C100245798T	CWF19L1	NM_018294.6(CWF19L1):c.964+1G>A	noncoding	Pathogenic
10	100245817	T	A	T100245817A	CWF19L1	NM_018294.6(CWF19L1):c.946A>T:p.Lys316Ter	coding	Pathogenic
10	100245823	G	A	G100245823A	CWF19L1	NM_018294.6(CWF19L1):c.940C>T:p.His314Tyr	coding	Benign
10	100245915	T	C	T100245915C	CWF19L1	NM_018294.6(CWF19L1):c.850-2A>G	noncoding	Pathogenic
10	100253422	G	A	G100253422A	CWF19L1	NM_018294.6(CWF19L1):c.622C>T:p.Arg208Ter	coding	Pathogenic
10	100256391	A	G	A100256391G	CWF19L1	NM_018294.6(CWF19L1):c.375T>C:p.Gly125=	coding	Benign
10	100288427	C	T	C100288427T	PKD2L1	NM_016112.3(PKD2L1):c.2387G>A:p.Arg796His	coding	Benign
10	100290141	G	A	G100290141A	PKD2L1	NM_016112.3(PKD2L1):c.2127-3C>T	noncoding	Benign
10	100291335	T	A	T100291335A	PKD2L1	NM_016112.3(PKD2L1):c.1973A>T:p.Gln658Leu	coding	Benign
10	100291357	G	A	G100291357A	PKD2L1	NM_016112.3(PKD2L1):c.1951C>T:p.Arg651Cys	coding	Benign
10	100294640	C	T	C100294640T	PKD2L1	NM_016112.3(PKD2L1):c.1554G>A:p.Arg518=	coding	Benign
10	100295111	T	C	T100295111C	PKD2L1	NM_016112.3(PKD2L1):c.1369A>G:p.Ile457Val	coding	Benign
10	100296301	C	G	C100296301G	PKD2L1	NM_016112.3(PKD2L1):c.1186-9G>C	noncoding	Benign
10	100297109	G	A	G100297109A	PKD2L1	NM_016112.3(PKD2L1):c.1056C>T:p.Ile352=	coding	Benign
10	100297432	G	A	G100297432A	PKD2L1	NM_016112.3(PKD2L1):c.906C>T:p.Phe302=	coding	Benign
10	100297519	G	A	G100297519A	PKD2L1	NM_016112.3(PKD2L1):c.819C>T:p.Asp273=	coding	Benign
10	100298726	G	A	G100298726A	PKD2L1	NM_016112.3(PKD2L1):c.567C>T:p.Tyr189=	coding	Benign
10	100329211	G	A	G100329211A	PKD2L1	NM_016112.3(PKD2L1):c.349C>T:p.Leu117=	coding	Benign
10	100347540	C	T	C100347540T	SCD	NM_005063.5(SCD):c.27+9C>T	noncoding	Benign
10	100348179	C	G	C100348179G	SCD	NM_005063.5(SCD):c.143C>G:p.Pro48Arg	coding	Benign
10	100348240	G	A	G100348240A	SCD	NM_005063.5(SCD):c.204G>A:p.Lys68=	coding	Benign
10	100360777	C	T	C100360777T	SCD	NM_005063.5(SCD):c.924C>T:p.Tyr308=	coding	Benign
10	100482273	G	A	G100482273A	WNT8B	NM_003393.4(WNT8B):c.513G>A:p.Ala171=	coding	Benign
10	100482762	C	A	C100482762A	WNT8B	NM_003393.4(WNT8B):c.1002C>A:p.Ser334Arg	coding	Benign
10	100526435	G	C	G100526435C	NDUFB8	NM_005004.4(NDUFB8):c.432C>G:p.Cys144Trp	coding	Pathogenic
10	100527060	G	T	G100527060T	NDUFB8	NM_005004.4(NDUFB8):c.227C>A:p.Pro76Gln	coding	Pathogenic
10	100529408	A	G	A100529408G	NDUFB8	NM_005004.4(NDUFB8):c.184T>C:p.Tyr62His	coding	Pathogenic
10	100746313	G	C	G100746313C	PAX2	NM_000278.5(PAX2):c.43+10G>C	noncoding	Benign
10	100749869	G	A	G100749869A	PAX2	NM_000278.5(PAX2):c.167G>A:p.Arg56Gln	coding	Pathogenic
10	100749889	G	A	G100749889A	PAX2	NM_003990.5(PAX2):c.187G>A:p.Gly63Ser	coding	Pathogenic
10	100749914	G	C	G100749914C	PAX2	NM_003990.5(PAX2):c.212G>C:p.Arg71Thr	coding	Pathogenic
10	100750686	C	T	C100750686T	PAX2	NM_000278.5(PAX2):c.213-8C>T	noncoding	Benign
10	100750707	G	A	G100750707A	PAX2	NM_000278.5(PAX2):c.226G>A:p.Gly76Ser	coding	Pathogenic
10	100750720	C	T	C100750720T	PAX2	NM_000278.5(PAX2):c.239C>T:p.Pro80Leu	coding	Pathogenic
10	100781314	G	A	G100781314A	PAX2	NM_000278.5(PAX2):c.565G>A:p.Gly189Arg	coding	Pathogenic
10	100787013	T	C	T100787013C	PAX2	NM_003990.5(PAX2):c.685+2T>C	noncoding	Pathogenic
10	100806519	C	T	C100806519T	PAX2	NM_000278.5(PAX2):c.706C>T:p.Gln236Ter	coding	Pathogenic
10	100809115	C	T	C100809115T	PAX2	NM_000278.5(PAX2):c.798C>T:p.Asn266=	coding	Benign
10	100809136	G	C	G100809136C	PAX2	NM_000278.5(PAX2):c.819G>C:p.Leu273=	coding	Benign
10	100809207	C	G	C100809207G	PAX2	NM_000278.5(PAX2):c.890C>G:p.Ser297Ter	coding	Pathogenic
10	100809226	A	C	A100809226C	PAX2	NM_000278.5(PAX2):c.909A>C:p.Pro303=	coding	Benign
10	100824682	C	A	C100824682A	PAX2	NM_000278.5(PAX2):c.954C>A:p.Tyr318Ter	coding	Pathogenic
10	100916819	A	G	A100916819G	SLF2	NM_018121.4(SLF2):c.434A>G:p.Lys145Arg	coding	Benign
10	100916834	A	G	A100916834G	SLF2	NM_018121.4(SLF2):c.449A>G:p.Tyr150Cys	coding	Benign
10	100979179	A	G	A100979179G	SEMA4G	NM_176792.3(MRPL43):c.*74T>C	coding	Benign
10	100980600	C	T	C100980600T	SEMA4G	NM_176792.3(MRPL43):c.529-1228G>A	coding	Benign
10	100980855	A	G	A100980855G	SEMA4G	NM_176792.3(MRPL43):c.529-1483T>C	coding	Benign
10	100980986	C	T	C100980986T	SEMA4G	NM_176792.3(MRPL43):c.529-1614G>A	coding	Benign
10	100983388	C	T	C100983388T	SEMA4G	NM_176792.3(MRPL43):c.528+367G>A	coding	Benign
10	100989084	C	A	C100989084A	TWNK	NM_021830.5(TWNK):c.874C>A:p.Pro292Thr	coding	Pathogenic
10	100989118	G	A	G100989118A	TWNK	NM_021830.5(TWNK):c.908G>A:p.Arg303Gln	coding	Pathogenic
10	100989154	G	T	G100989154T	TWNK	NM_021830.5(TWNK):c.944G>T:p.Trp315Leu	coding	Pathogenic
10	100989162	G	A	G100989162A	TWNK	NM_021830.5(TWNK):c.952G>A:p.Ala318Thr	coding	Pathogenic
10	100989165	A	G	A100989165G	TWNK	NM_021830.5(TWNK):c.955A>G:p.Lys319Glu	coding	Pathogenic
10	100989177	C	T	C100989177T	TWNK	NM_021830.5(TWNK):c.967C>T:p.Arg323Ter	coding	Pathogenic
10	100989195	C	T	C100989195T	TWNK	NM_021830.5(TWNK):c.985C>T:p.Arg329Ter	coding	Pathogenic
10	100989211	G	A	G100989211A	TWNK	NM_021830.5(TWNK):c.1001G>A:p.Arg334Gln	coding	Pathogenic
10	100989271	G	C	G100989271C	TWNK	NM_021830.5(TWNK):c.1061G>C:p.Arg354Pro	coding	Pathogenic
10	100989285	G	A	G100989285A	TWNK	NM_021830.5(TWNK):c.1075G>A:p.Ala359Thr	coding	Pathogenic
10	100989312	G	A	G100989312A	TWNK	NM_021830.5(TWNK):c.1102G>A:p.Val368Ile	coding	Benign
10	100989316	C	A	C100989316A	TWNK	NM_021830.5(TWNK):c.1106C>A:p.Ser369Tyr	coding	Pathogenic
10	100989320	C	G	C100989320G	TWNK	NM_021830.5(TWNK):c.1110C>G:p.Phe370Leu	coding	Pathogenic
10	100989331	G	A	G100989331A	TWNK	NM_021830.5(TWNK):c.1121G>A:p.Arg374Gln	coding	Pathogenic/Likely_pathogenic
10	100989352	T	C	T100989352C	TWNK	NM_021830.5(TWNK):c.1142T>C:p.Leu381Pro	coding	Pathogenic
10	100989687	C	T	C100989687T	TWNK	NM_021830.5(TWNK):c.1287C>T:p.Ala429=	coding	Pathogenic
10	100989721	T	G	T100989721G	TWNK	NM_021830.5(TWNK):c.1321T>G:p.Trp441Gly	coding	Pathogenic
10	100989770	C	T	C100989770T	TWNK	NM_021830.5(TWNK):c.1370C>T:p.Thr457Ile	coding	Pathogenic
10	100989774	G	T	G100989774T	TWNK	NM_021830.5(TWNK):c.1374G>T:p.Gln458His	coding	Pathogenic
10	100989779	C	G	C100989779G	TWNK	NM_021830.5(TWNK):c.1379C>G:p.Ala460Gly	coding	Pathogenic
10	100989791	T	C	T100989791C	TWNK	NM_021830.5(TWNK):c.1391T>C:p.Leu464Pro	coding	Pathogenic
10	100989822	G	A	G100989822A	TWNK	NM_021830.5(TWNK):c.1422G>A:p.Trp474Ter	coding	Pathogenic
10	100989822	G	C	G100989822C	TWNK	NM_021830.5(TWNK):c.1422G>C:p.Trp474Cys	coding	Pathogenic
10	100989823	G	C	G100989823C	TWNK	NM_021830.5(TWNK):c.1423G>C:p.Ala475Pro	coding	Pathogenic
10	100990474	A	G	A100990474G	TWNK	NM_021830.5(TWNK):c.1523A>G:p.Tyr508Cys	coding	Pathogenic
10	100990478	C	T	C100990478T	TWNK	NM_021830.5(TWNK):c.1527C>T:p.Asp509=	coding	Benign/Likely_benign
10	100990864	C	T	C100990864T	TWNK	NM_021830.5(TWNK):c.1593-5C>T	noncoding	Benign
10	100990866	T	C	T100990866C	TWNK	NM_021830.5(TWNK):c.1593-3T>C	noncoding	Benign
10	100990872	C	T	C100990872T	TWNK	NM_021830.5(TWNK):c.1596C>T:p.Ile532=	coding	Benign
10	100991026	C	A	C100991026A	TWNK	NM_021830.5(TWNK):c.1734+16C>A	coding	Benign
10	100991027	G	A	G100991027A	TWNK	NM_021830.5(TWNK):c.1734+17G>A	coding	Benign
10	100993209	A	G	A100993209G	TWNK	NM_021830.5(TWNK):c.1754A>G:p.Asn585Ser	coding	Pathogenic
10	100993714	G	A	G100993714A	TWNK	NM_021830.5(TWNK):c.*204G>A	noncoding	Benign
10	100993965	C	T	C100993965T	TWNK	NM_021830.5(TWNK):c.*455C>T	noncoding	Benign/Likely_benign
10	100994031	C	G	C100994031G	TWNK	NM_021830.5(TWNK):c.*521C>G	noncoding	Benign
10	100994276	A	T	A100994276T	TWNK	NM_021830.5(TWNK):c.*766A>T	noncoding	Benign
10	101002682	C	T	C101002682T	LZTS2	NM_001318099.2(LZTS2):c.144C>T:p.His48=	coding	Benign
10	101008477	C	T	C101008477T	PDZD7	NM_001195263.2(PDZD7):c.3092G>A:p.Arg1031His	coding	Benign
10	101008626	A	G	A101008626G	PDZD7	NM_001195263.2(PDZD7):c.2943T>C:p.Asp981=	coding	Benign
10	101010325	T	G	T101010325G	PDZD7	NM_001195263.2(PDZD7):c.2564A>C:p.Asn855Thr	coding	Benign
10	101010521	T	C	T101010521C	PDZD7	NM_001195263.2(PDZD7):c.2368A>G:p.Lys790Glu	coding	Benign
10	101010570	A	G	A101010570G	PDZD7	NM_001195263.2(PDZD7):c.2319T>C:p.Arg773=	coding	Benign
10	101010658	C	T	C101010658T	PDZD7	NM_001195263.2(PDZD7):c.2231G>A:p.Arg744Gln	coding	Benign
10	101010659	G	T	G101010659T	PDZD7	NM_001195263.2(PDZD7):c.2230C>A:p.Arg744=	coding	Benign
10	101010732	G	A	G101010732A	PDZD7	NM_001195263.2(PDZD7):c.2157C>T:p.Asp719=	coding	Benign
10	101010745	G	A	G101010745A	PDZD7	NM_001195263.2(PDZD7):c.2144C>T:p.Pro715Leu	coding	Benign/Likely_benign
10	101010757	T	C	T101010757C	PDZD7	NM_001195263.2(PDZD7):c.2132A>G:p.His711Arg	coding	Benign
10	101010840	C	T	C101010840T	PDZD7	NM_001195263.2(PDZD7):c.2049G>A:p.Pro683=	coding	Benign
10	101011196	A	C	A101011196C	PDZD7	NM_001195263.2(PDZD7):c.2006-313T>G	noncoding	Benign
10	101011816	G	A	G101011816A	PDZD7	NM_001195263.2(PDZD7):c.1934-55C>T	noncoding	Benign
10	101011953	C	T	C101011953T	PDZD7	NM_001195263.2(PDZD7):c.1905G>A:p.Glu635=	coding	Benign/Likely_benign
10	101012454	A	G	A101012454G	PDZD7	NM_001195263.2(PDZD7):c.1750-196T>C	noncoding	Benign
10	101012499	G	A	G101012499A	PDZD7	NM_001195263.2(PDZD7):c.1750-241C>T	noncoding	Benign
10	101012526	A	C	A101012526C	PDZD7	NM_001195263.2(PDZD7):c.1750-268T>G	noncoding	Benign
10	101015689	G	A	G101015689A	PDZD7	NM_001195263.2(PDZD7):c.1696C>T:p.Gln566Ter	coding	Pathogenic
10	101015737	G	A	G101015737A	PDZD7	NM_001195263.2(PDZD7):c.1648C>T:p.Gln550Ter	coding	Pathogenic
10	101015772	C	T	C101015772T	PDZD7	NM_001195263.2(PDZD7):c.1613G>A:p.Gly538Glu	coding	Benign/Likely_benign
10	101015809	G	A	G101015809A	PDZD7	NM_001195263.2(PDZD7):c.1576C>T:p.Gln526Ter	coding	Pathogenic
10	101015959	G	A	G101015959A	PDZD7	NM_001195263.2(PDZD7):c.1574-148C>T	noncoding	Benign
10	101016641	C	G	C101016641G	PDZD7	NM_001195263.2(PDZD7):c.1523-214G>C	noncoding	Benign
10	101018011	C	G	C101018011G	PDZD7	NM_001195263.2(PDZD7):c.1522+88G>C	noncoding	Benign
10	101018174	C	T	C101018174T	PDZD7	NM_001195263.2(PDZD7):c.1447G>A:p.Asp483Asn	coding	Benign
10	101019135	G	A	G101019135A	PDZD7	NM_001195263.2(PDZD7):c.1011C>T:p.Tyr337=	coding	Benign
10	101019138	G	A	G101019138A	PDZD7	NM_001195263.2(PDZD7):c.1008C>T:p.Pro336=	coding	Benign
10	101019210	G	A	G101019210A	PDZD7	NM_001195263.2(PDZD7):c.936C>T:p.Asn312=	coding	Benign
10	101020555	G	T	G101020555T	PDZD7	NM_001195263.2(PDZD7):c.928+63C>A	noncoding	Benign
10	101020881	A	C	A101020881C	PDZD7	NM_001195263.2(PDZD7):c.868-203T>G	noncoding	Benign
10	101022552	A	C	A101022552C	PDZD7	NM_001195263.2(PDZD7):c.543-167T>G	noncoding	Benign
10	101023921	T	C	T101023921C	PDZD7	NM_001195263.2(PDZD7):c.367+7A>G	noncoding	Benign
10	101030052	G	C	G101030052C	PDZD7	NM_001195263.2(PDZD7):c.168C>G:p.Arg56=	coding	Benign
10	101030061	C	G	C101030061G	PDZD7	NM_001195263.2(PDZD7):c.159G>C:p.Gly53=	coding	Benign
10	101030064	G	A	G101030064A	PDZD7	NM_001195263.2(PDZD7):c.156C>T:p.Asn52=	coding	Benign/Likely_benign
10	101030094	G	T	G101030094T	PDZD7	NM_001195263.2(PDZD7):c.126C>A:p.Tyr42Ter	coding	Pathogenic
10	101030695	T	C	T101030695C	PDZD7	NM_001195263.2(PDZD7):c.-165-311A>G	noncoding	Benign
10	101062679	C	T	C101062679T	KAZALD1	NM_030929.5(KAZALD1):c.87C>T:p.Gly29=	coding	Benign
10	101062803	A	T	A101062803T	KAZALD1	NM_030929.5(KAZALD1):c.211A>T:p.Arg71Trp	coding	Benign
10	101064548	C	T	C101064548T	KAZALD1	NM_030929.5(KAZALD1):c.720C>T:p.Ile240=	coding	Benign
10	101064595	G	A	G101064595A	KAZALD1	NM_030929.5(KAZALD1):c.767G>A:p.Arg256His	coding	Benign
10	101227402	G	C	G101227402C	LBX1	NM_006562.4(LBX1):c.714C>G:p.Pro238=	coding	Benign
10	101532297	A	G	A101532297G	BTRC	NM_033637.4(BTRC):c.843A>G:p.Thr281=	coding	Benign
10	101534803	A	G	A101534803G	BTRC	NM_033637.4(BTRC):c.1240A>G:p.Thr414Ala	coding	Benign
10	101611032	G	A	G101611032A	FBXW4	NM_022039.4(FBXW4):c.*259C>T	noncoding	Benign
10	101611284	C	G	C101611284G	FBXW4	NM_022039.4(FBXW4):c.*7G>C	noncoding	Benign
10	101612369	A	G	A101612369G	FBXW4	NM_022039.4(FBXW4):c.1410T>C:p.Tyr470=	coding	Benign
10	101612399	G	A	G101612399A	FBXW4	NM_022039.4(FBXW4):c.1380C>T:p.Phe460=	coding	Benign
10	101673044	A	G	A101673044G	FBXW4	NM_022039.4(FBXW4):c.1011T>C:p.Asp337=	coding	Benign
10	101694572	G	C	G101694572C	FBXW4	NM_022039.4(FBXW4):c.534C>G:p.Ala178=	coding	Benign
10	101694634	C	G	C101694634G	FBXW4	NM_022039.4(FBXW4):c.472G>C:p.Ala158Pro	coding	Benign
10	101694645	A	T	A101694645T	FBXW4	NM_022039.4(FBXW4):c.461T>A:p.Val154Glu	noncoding	Benign
10	101694666	G	T	G101694666T	FBXW4	NM_022039.4(FBXW4):c.440C>A:p.Ala147Asp	noncoding	Benign
10	101694890	C	T	C101694890T	FBXW4	NM_022039.4(FBXW4):c.216G>A:p.Gly72=	noncoding	Benign
10	101770422	G	A	G101770422A	FGF8	NM_033164.4(FGF8):c.609C>T:p.Thr203=	coding	Benign/Likely_benign
10	101770482	C	T	C101770482T	FGF8	NM_033164.4(FGF8):c.549G>A:p.Thr183=	coding	Benign
10	101770681	C	T	C101770681T	FGF8	NM_033164.4(FGF8):c.412-62G>A	noncoding	Benign
10	101771522	G	A	G101771522A	FGF8	NM_033164.4(FGF8):c.352C>T:p.Arg118Ter	coding	Pathogenic/Likely_pathogenic
10	101771528	G	A	G101771528A	FGF8	NM_033164.4(FGF8):c.346C>T:p.Arg116Ter	coding	Pathogenic
10	101771528	G	C	G101771528C	FGF8	NM_033164.4(FGF8):c.346C>G:p.Arg116Gly	coding	Pathogenic
10	101774771	T	C	T101774771C	FGF8	NM_033164.4(FGF8):c.265A>G:p.Lys89Glu	coding	Pathogenic
10	101775168	A	G	A101775168G	FGF8	NM_033164.4(FGF8):c.118T>C:p.Phe40Leu	coding	Pathogenic
10	101775769	G	T	G101775769T	FGF8	NM_033164.4(FGF8):c.40C>A:p.His14Asn	coding	Pathogenic
10	101813613	T	G	T101813613G	OGA	NM_012215.5(OGA):c.200-7A>C	noncoding	Benign
10	102065573	A	G	A102065573G	HPS6	NM_024747.6(HPS6):c.99A>G:p.Arg33=	coding	Benign
10	102065697	C	T	C102065697T	HPS6	NM_024747.5(HPS6):c.223C>T:p.Gln75Ter	coding	Pathogenic
10	102065872	C	T	C102065872T	HPS6	NM_024747.5(HPS6):c.398C>T:p.Ala133Val	coding	Benign
10	102065918	C	G	C102065918G	HPS6	NM_024747.5(HPS6):c.444C>G:p.Ala148=	coding	Benign
10	102065990	G	A	G102065990A	HPS6	NM_024747.6(HPS6):c.516G>A:p.Gly172=	coding	Benign
10	102066106	G	C	G102066106C	HPS6	NM_024747.5(HPS6):c.632G>C:p.Gly211Ala	coding	Benign/Likely_benign
10	102066172	T	G	T102066172G	HPS6	NM_024747.5(HPS6):c.698T>G:p.Leu233Arg	coding	Benign/Likely_benign
10	102066289	C	T	C102066289T	HPS6	NM_024747.5(HPS6):c.815C>T:p.Thr272Ile	coding	Pathogenic
10	102066387	C	T	C102066387T	HPS6	NM_024747.5(HPS6):c.913C>T:p.Gln305Ter	coding	Pathogenic
10	102066476	G	A	G102066476A	HPS6	NM_024747.6(HPS6):c.1002G>A:p.Leu334=	coding	Benign
10	102066708	C	T	C102066708T	HPS6	NM_024747.5(HPS6):c.1234C>T:p.Gln412Ter	coding	Pathogenic
10	102066932	G	A	G102066932A	HPS6	NM_024747.6(HPS6):c.1458G>A:p.Ala486=	coding	Benign
10	102067166	C	T	C102067166T	HPS6	NM_024747.6(HPS6):c.1692C>T:p.Pro564=	coding	Benign/Likely_benign
10	102067238	G	A	G102067238A	HPS6	NM_024747.5(HPS6):c.1764G>A:p.Gln588=	coding	Benign
10	102067253	G	A	G102067253A	HPS6	NM_024747.5(HPS6):c.1779G>A:p.Pro593=	coding	Benign/Likely_benign
10	102067512	C	T	C102067512T	HPS6	NM_024747.5(HPS6):c.2038C>T:p.Gln680Ter	coding	Pathogenic
10	102067652	A	T	A102067652T	HPS6	NM_024747.6(HPS6):c.2178A>T:p.Gly726=	coding	Benign
10	102067980	T	G	T102067980G	HPS6	NM_024747.5(HPS6):c.*178T>G	noncoding	Benign
10	102148623	G	A	G102148623A	PPRC1	NM_015062.5(PPRC1):c.4551-5G>A	noncoding	Benign
10	102152452	G	A	G102152452A	NOLC1	NM_004741.5(NOLC1):c.42G>A:p.Leu14=	coding	Benign
10	102159981	G	A	G102159981A	NOLC1	NM_004741.5(NOLC1):c.945G>A:p.Lys315=	coding	Benign
10	102160587	G	T	G102160587T	NOLC1	NM_004741.5(NOLC1):c.1235G>T:p.Gly412Val	coding	Benign
10	102161091	C	T	C102161091T	NOLC1	NM_004741.5(NOLC1):c.1739C>T:p.Ser580Leu	coding	Benign
10	102161895	A	G	A102161895G	NOLC1	NM_004741.5(NOLC1):c.1911A>G:p.Ser637=	coding	Benign
10	102231624	G	A	G102231624A	PITX3	NM_005029.4(PITX3):c.285C>T:p.Ile95=	coding	Benign
10	102232043	C	T	C102232043T	PITX3	NM_005029.4(PITX3):c.38G>A:p.Ser13Asn	coding	Pathogenic
10	102352451	T	C	T102352451C	GBF1	NM_004193.3(GBF1):c.524-7T>C	noncoding	Benign
10	102376972	A	G	A102376972G	GBF1	NM_004193.3(GBF1):c.4323A>G:p.Lys1441=	coding	Benign
10	102377116	G	A	G102377116A	GBF1	NM_004193.3(GBF1):c.4467G>A:p.Thr1489=	coding	Benign
10	102396271	G	A	G102396271A	NFKB2	NM_001322934.2(NFKB2):c.40G>A:p.Glu14Lys	coding	Benign
10	102397970	C	T	C102397970T	NFKB2	NM_001322934.2(NFKB2):c.662-11C>T	noncoding	Benign
10	102398453	G	A	G102398453A	NFKB2	NM_001322934.2(NFKB2):c.921G>A:p.Leu307=	coding	Benign
10	102398510	C	T	C102398510T	NFKB2	NM_001322934.2(NFKB2):c.978C>T:p.Tyr326=	coding	Benign
10	102398871	G	T	G102398871T	NFKB2	NM_001322934.2(NFKB2):c.1117+7G>T	noncoding	Benign
10	102399382	G	T	G102399382T	NFKB2	NM_001322934.2(NFKB2):c.1212G>T:p.Gly404=	coding	Benign
10	102399439	A	G	A102399439G	NFKB2	NM_001322934.2(NFKB2):c.1269A>G:p.Pro423=	coding	Benign
10	102399466	C	T	C102399466T	NFKB2	NM_001322934.2(NFKB2):c.1296C>T:p.Cys432=	coding	Benign
10	102399719	G	T	G102399719T	NFKB2	NM_001322934.2(NFKB2):c.1469+1G>T	coding	Pathogenic
10	102400301	C	A	C102400301A	NFKB2	NM_001322934.2(NFKB2):c.1608C>A:p.Ile536=	coding	Benign
10	102400677	A	G	A102400677G	NFKB2	NM_001322934.2(NFKB2):c.1821A>G:p.Ala607=	coding	Benign
10	102400682	G	A	G102400682A	NFKB2	NM_001322934.2(NFKB2):c.1826G>A:p.Arg609Gln	coding	Benign
10	102400725	G	A	G102400725A	NFKB2	NM_001322934.2(NFKB2):c.1869G>A:p.Gly623=	coding	Benign
10	102400759	C	T	C102400759T	NFKB2	NM_001322934.2(NFKB2):c.1903C>T:p.Arg635Ter	coding	Pathogenic
10	102400809	C	G	C102400809G	NFKB2	NM_001322934.2(NFKB2):c.1953C>G:p.Thr651=	coding	Benign
10	102400818	C	T	C102400818T	NFKB2	NM_001322934.2(NFKB2):c.1962C>T:p.Val654=	coding	Benign
10	102401202	C	T	C102401202T	NFKB2	NM_001322934.2(NFKB2):c.2094C>T:p.Asn698=	coding	Benign
10	102401253	G	A	G102401253A	NFKB2	NM_001322934.2(NFKB2):c.2145G>A:p.Ser715=	coding	Benign
10	102401464	C	T	C102401464T	NFKB2	NM_001322934.2(NFKB2):c.2239C>T:p.Leu747=	coding	Benign
10	102402039	T	A	T102402039A	NFKB2	NM_001322934.2(NFKB2):c.2467-9T>A	noncoding	Benign
10	102402138	C	T	C102402138T	NFKB2	NM_001322934.2(NFKB2):c.2557C>T:p.Arg853Ter	coding	Pathogenic
10	102402267	A	G	A102402267G	NFKB2	NM_001322934.2(NFKB2):c.2594A>G:p.Asp865Gly	coding	Pathogenic
10	102403234	C	T	C102403234T	PSD	NM_002779.5(PSD):c.3041G>A:p.Arg1014Gln	coding	Benign
10	102411084	G	A	G102411084A	PSD	NM_002779.5(PSD):c.1975C>T:p.Leu659=	coding	Benign
10	102414981	C	T	C102414981T	PSD	NM_002779.5(PSD):c.1006G>A:p.Gly336Ser	coding	Benign
10	102416559	G	A	G102416559A	PSD	NM_002779.5(PSD):c.480C>T:p.Pro160=	coding	Benign
10	102503918	T	C	T102503918C	SUFU	NM_016169.3(SUFU):c.-235T>C	noncoding	Benign
10	102503975	C	T	C102503975T	SUFU	NM_016169.3(SUFU):c.-178C>T	noncoding	Benign
10	102504164	G	A	G102504164A	SUFU	NM_016169.3(SUFU):c.12G>A:p.Leu4=	coding	Benign/Likely_benign
10	102504196	C	T	C102504196T	SUFU	NM_016169.3(SUFU):c.44C>T:p.Pro15Leu	coding	Pathogenic
10	102504327	A	T	A102504327T	SUFU	NM_016169.3(SUFU):c.175A>T:p.Lys59Ter	coding	Pathogenic
10	102504350	C	T	C102504350T	SUFU	NM_016169.3(SUFU):c.182+16C>T	noncoding	Benign
10	102504523	C	T	C102504523T	SUFU	NM_016169.3(SUFU):c.182+189C>T	noncoding	Benign
10	102509103	C	A	C102509103A	SUFU	NM_016169.3(SUFU):c.183-66C>A	noncoding	Benign
10	102509120	G	C	G102509120C	SUFU	NM_016169.3(SUFU):c.183-49G>C	noncoding	Benign
10	102509165	G	A	G102509165A	SUFU	NM_016169.3(SUFU):c.183-4G>A	noncoding	Benign/Likely_benign
10	102509196	T	C	T102509196C	SUFU	NM_016169.3(SUFU):c.210T>C:p.Tyr70=	coding	Benign/Likely_benign
10	102509460	G	A	G102509460A	SUFU	NM_016169.3(SUFU):c.317+157G>A	noncoding	Benign
10	102509544	G	A	G102509544A	SUFU	NM_016169.3(SUFU):c.317+241G>A	noncoding	Benign
10	102550088	C	T	C102550088T	SUFU	NM_016169.3(SUFU):c.436C>T:p.Arg146Ter	coding	Pathogenic
10	102592654	A	G	A102592654G	SUFU	NM_016169.3(SUFU):c.527A>G:p.His176Arg	coding	Pathogenic
10	102593683	C	T	C102593683T	SUFU	NM_016169.3(SUFU):c.645C>T:p.Asn215=	coding	Benign/Likely_benign
10	102597207	G	A	G102597207A	SUFU	NM_016169.3(SUFU):c.824G>A:p.Trp275Ter	coding	Pathogenic
10	102597208	G	A	G102597208A	SUFU	NM_016169.4(SUFU):c.825G>A:p.Trp275Ter	coding	Pathogenic
10	102597278	C	T	C102597278T	SUFU	NM_016169.4(SUFU):c.895C>T:p.Arg299Ter	coding	Pathogenic
10	102599540	G	T	G102599540T	SUFU	NM_016169.3(SUFU):c.1018G>T:p.Ala340Ser	coding	Benign/Likely_benign
10	102615058	G	C	G102615058C	SUFU	NM_016169.3(SUFU):c.1023-210G>C	noncoding	Benign
10	102617422	G	A	G102617422A	SUFU	NM_016169.4(SUFU):c.1290G>A:p.Trp430Ter	coding	Pathogenic
10	102617423	T	C	T102617423C	SUFU	NM_016169.3(SUFU):c.1291T>C:p.Leu431=	coding	Benign/Likely_benign
10	102627177	T	C	T102627177C	SUFU	NM_016169.3(SUFU):c.1299T>C:p.Ile433=	coding	Benign
10	102627186	C	T	C102627186T	SUFU	NM_016169.3(SUFU):c.1308C>T:p.Thr436=	coding	Benign/Likely_benign
10	102627262	T	C	T102627262C	SUFU	NM_016169.3(SUFU):c.1365+19T>C	noncoding	Benign
10	102630273	C	T	C102630273T	SUFU	NM_016169.3(SUFU):c.*118C>T	noncoding	Benign
10	102630546	A	G	A102630546G	SUFU	NM_016169.3(SUFU):c.*391A>G	noncoding	Benign
10	102631277	C	T	C102631277T	SUFU	NM_016169.3(SUFU):c.*1122C>T	noncoding	Benign
10	102631528	C	T	C102631528T	SUFU	NM_016169.3(SUFU):c.*1373C>T	noncoding	Benign
10	102631788	C	T	C102631788T	SUFU	NM_016169.3(SUFU):c.*1633C>T	noncoding	Benign
10	102631870	A	G	A102631870G	SUFU	NM_016169.3(SUFU):c.*1715A>G	noncoding	Benign
10	102632740	T	C	T102632740C	SUFU	NM_016169.3(SUFU):c.*2585T>C	noncoding	Benign
10	102632823	C	T	C102632823T	SUFU	NM_016169.3(SUFU):c.*2668C>T	noncoding	Benign
10	102656965	C	T	C102656965T	TRIM8	NM_030912.3(TRIM8):c.1267C>T:p.Gln423Ter	coding	Pathogenic
10	102685872	G	A	G102685872A	ARL3	NM_004311.4(ARL3):c.445C>T:p.Arg149Cys	coding	Pathogenic
10	102689912	C	A	C102689912A	ARL3	NM_004311.4(ARL3):c.296G>T:p.Arg99Ile	coding	Pathogenic
10	102830871	A	G	A102830871G	CYP17A1	NM_000102.4(CYP17A1):c.1358T>C:p.Phe453Ser	coding	Pathogenic
10	102830946	G	A	G102830946A	CYP17A1	NM_000102.4(CYP17A1):c.1283C>T:p.Pro428Leu	coding	Pathogenic
10	102831503	C	T	C102831503T	CYP17A1	NM_000102.4(CYP17A1):c.1243+5G>A	noncoding	Pathogenic
10	102831535	A	G	A102831535G	CYP17A1	NM_000102.4(CYP17A1):c.1216T>C:p.Trp406Arg	coding	Pathogenic
10	102831589	T	A	T102831589A	CYP17A1	NM_000102.4(CYP17A1):c.1162A>T:p.Lys388Ter	coding	Pathogenic
10	102832492	A	C	A102832492C	CYP17A1	NM_000102.4(CYP17A1):c.1139+19T>G	noncoding	Benign
10	102832532	T	A	T102832532A	CYP17A1	NM_000102.4(CYP17A1):c.1118A>T:p.His373Leu	coding	Pathogenic
10	102832565	C	T	C102832565T	CYP17A1	NM_000102.4(CYP17A1):c.1085G>A:p.Arg362His	coding	Pathogenic
10	102832566	G	A	G102832566A	CYP17A1	NM_000102.4(CYP17A1):c.1084C>T:p.Arg362Cys	coding	Pathogenic
10	102832577	C	T	C102832577T	CYP17A1	NM_000102.4(CYP17A1):c.1073G>A:p.Arg358Gln	coding	Pathogenic
10	102832610	C	T	C102832610T	CYP17A1	NM_000102.4(CYP17A1):c.1040G>A:p.Arg347His	coding	Pathogenic
10	102832611	G	A	G102832611A	CYP17A1	NM_000102.4(CYP17A1):c.1039C>T:p.Arg347Cys	coding	Pathogenic
10	102832626	G	T	G102832626T	CYP17A1	NM_000102.4(CYP17A1):c.1024C>A:p.Pro342Thr	coding	Pathogenic
10	102832665	A	C	A102832665C	CYP17A1	NM_000102.4(CYP17A1):c.985T>G:p.Tyr329Asp	coding	Pathogenic
10	102834074	G	A	G102834074A	CYP17A1	NM_000102.4(CYP17A1):c.715C>T:p.Arg239Ter	coding	Pathogenic
10	102834791	C	T	C102834791T	CYP17A1	NM_000102.4(CYP17A1):c.660G>A:p.Trp220Ter	coding	Pathogenic
10	102834850	A	T	A102834850T	CYP17A1	NM_000102.4(CYP17A1):c.601T>A:p.Tyr201Asn	coding	Pathogenic
10	102835016	T	G	T102835016G	CYP17A1	NM_000102.4(CYP17A1):c.437-2A>C	noncoding	Pathogenic
10	102835066	C	T	C102835066T	CYP17A1	NM_000102.4(CYP17A1):c.437-52G>A	noncoding	Benign
10	102835071	T	C	T102835071C	CYP17A1	NM_000102.4(CYP17A1):c.437-57A>G	noncoding	Benign
10	102835097	G	A	G102835097A	CYP17A1	NM_000102.4(CYP17A1):c.437-83C>T	noncoding	Benign
10	102835149	T	G	T102835149G	CYP17A1	NM_000102.4(CYP17A1):c.436+105A>C	noncoding	Benign
10	102835174	T	C	T102835174C	CYP17A1	NM_000102.4(CYP17A1):c.436+80A>G	noncoding	Benign
10	102835249	C	A	C102835249A	CYP17A1	NM_000102.4(CYP17A1):c.436+5G>T	noncoding	Pathogenic
10	102835316	C	T	C102835316T	CYP17A1	NM_000102.4(CYP17A1):c.374G>A:p.Arg125Gln	coding	Pathogenic
10	102835343	T	A	T102835343A	CYP17A1	NM_000102.4(CYP17A1):c.347A>T:p.Asp116Val	coding	Pathogenic
10	102835350	A	C	A102835350C	CYP17A1	NM_000102.4(CYP17A1):c.340T>G:p.Phe114Val	coding	Pathogenic
10	102835374	A	G	A102835374G	CYP17A1	NM_000102.4(CYP17A1):c.316T>C:p.Ser106Pro	coding	Pathogenic
10	102837063	A	G	A102837063G	CYP17A1	NM_000102.4(CYP17A1):c.297+2T>C	noncoding	Pathogenic
10	102837076	G	A	G102837076A	CYP17A1	NM_000102.4(CYP17A1):c.286C>T:p.Arg96Trp	coding	Pathogenic
10	102837084	A	C	A102837084C	CYP17A1	NM_000102.4(CYP17A1):c.278T>G:p.Phe93Cys	coding	Pathogenic
10	102837167	C	A	C102837167A	CYP17A1	NM_000102.4(CYP17A1):c.195G>T:p.Ser65=	coding	Benign
10	102837224	G	A	G102837224A	CYP17A1	NM_000102.4(CYP17A1):c.138C>T:p.His46=	coding	Benign
10	102837281	G	T	G102837281T	CYP17A1	NM_000102.4(CYP17A1):c.81C>A:p.Tyr27Ter	coding	Pathogenic
10	102837311	C	T	C102837311T	CYP17A1	NM_000102.4(CYP17A1):c.51G>A:p.Trp17Ter	coding	Pathogenic
10	102837357	C	T	C102837357T	CYP17A1	NM_000102.4(CYP17A1):c.5G>A:p.Trp2Ter	coding	Pathogenic
10	102837395	A	G	A102837395G	CYP17A1	NM_000102.4(CYP17A1):c.-34T>C	noncoding	Benign
10	102870074	G	T	G102870074T	AS3MT	NM_020682.4(AS3MT):c.43-10G>T	noncoding	Benign
10	102918371	A	T	A102918371T	CNNM2	NM_017649.5(CNNM2):c.-110A>T	noncoding	Benign
10	102918570	C	T	C102918570T	CNNM2	NM_017649.5(CNNM2):c.90C>T:p.Arg30=	coding	Benign
10	102918593	G	A	G102918593A	CNNM2	NM_017649.5(CNNM2):c.113G>A:p.Arg38Gln	coding	Benign
10	102918822	G	T	G102918822T	CNNM2	NM_017649.5(CNNM2):c.342G>T:p.Thr114=	coding	Benign
10	102918840	C	T	C102918840T	CNNM2	NM_017649.5(CNNM2):c.360C>T:p.Phe120=	coding	Benign
10	102918844	G	A	G102918844A	CNNM2	NM_017649.5(CNNM2):c.364G>A:p.Glu122Lys	coding	Pathogenic
10	102918891	C	G	C102918891G	CNNM2	NM_017649.5(CNNM2):c.411C>G:p.Gly137=	coding	Benign
10	102919044	C	T	C102919044T	CNNM2	NM_017649.5(CNNM2):c.564C>T:p.Ser188=	coding	Benign/Likely_benign
10	102919084	G	A	G102919084A	CNNM2	NM_017649.5(CNNM2):c.604G>A:p.Ala202Thr	coding	Benign
10	102919281	C	T	C102919281T	CNNM2	NM_017649.5(CNNM2):c.801C>T:p.Cys267=	coding	Benign
10	102919383	C	T	C102919383T	CNNM2	NM_017649.5(CNNM2):c.903C>T:p.Tyr301=	coding	Benign/Likely_benign
10	102919549	G	A	G102919549A	CNNM2	NM_017649.5(CNNM2):c.1069G>A:p.Glu357Lys	coding	Pathogenic
10	102919608	C	T	C102919608T	CNNM2	NM_017649.5(CNNM2):c.1128C>T:p.Ile376=	coding	Benign
10	102919614	C	T	C102919614T	CNNM2	NM_017649.5(CNNM2):c.1134C>T:p.Leu378=	coding	Benign
10	102919995	C	T	C102919995T	CNNM2	NM_017649.5(CNNM2):c.1515C>T:p.Pro505=	coding	Benign/Likely_benign
10	103049701	C	T	C103049701T	CNNM2	NM_017649.5(CNNM2):c.1622-6C>T	noncoding	Benign
10	103049788	C	T	C103049788T	CNNM2	NM_017649.5(CNNM2):c.1703C>T:p.Thr568Ile	coding	Pathogenic
10	103054405	T	C	T103054405C	CNNM2	NM_017649.5(CNNM2):c.1842T>C:p.Ser614=	coding	Benign
10	103056978	T	C	T103056978C	CNNM2	NM_017649.5(CNNM2):c.2073+14T>C	noncoding	Benign
10	103076162	C	T	C103076162T	CNNM2	NM_017649.5(CNNM2):c.2310C>T:p.Ala770=	coding	Benign
10	103076228	C	T	C103076228T	CNNM2	NM_017649.5(CNNM2):c.2376C>T:p.Pro792=	coding	Benign
10	103077096	C	T	C103077096T	CNNM2	NM_017649.5(CNNM2):c.2544C>T:p.Asp848=	coding	Benign
10	103077117	C	T	C103077117T	CNNM2	NM_017649.5(CNNM2):c.2565C>T:p.Asn855=	coding	Benign
10	103077183	C	T	C103077183T	CNNM2	NM_017649.5(CNNM2):c.*3C>T	noncoding	Benign
10	103077214	C	T	C103077214T	CNNM2	NM_017649.5(CNNM2):c.*34C>T	noncoding	Benign
10	103077232	C	T	C103077232T	CNNM2	NM_017649.5(CNNM2):c.*52C>T	noncoding	Benign
10	103077491	G	A	G103077491A	CNNM2	NM_017649.5(CNNM2):c.*311G>A	noncoding	Benign
10	103077635	C	T	C103077635T	CNNM2	NM_017649.5(CNNM2):c.*455C>T	noncoding	Benign
10	103077708	G	A	G103077708A	CNNM2	NM_017649.5(CNNM2):c.*528G>A	noncoding	Benign
10	103077799	A	G	A103077799G	CNNM2	NM_017649.5(CNNM2):c.*619A>G	noncoding	Benign
10	103077974	G	A	G103077974A	CNNM2	NM_017649.5(CNNM2):c.*794G>A	noncoding	Benign
10	103078059	G	A	G103078059A	CNNM2	NM_017649.5(CNNM2):c.*879G>A	noncoding	Benign
10	103078071	G	T	G103078071T	CNNM2	NM_017649.5(CNNM2):c.*891G>T	noncoding	Benign
10	103078084	G	C	G103078084C	CNNM2	NM_017649.5(CNNM2):c.*904G>C	noncoding	Benign
10	103078342	G	A	G103078342A	CNNM2	NM_017649.5(CNNM2):c.*1162G>A	noncoding	Benign
10	103078426	G	C	G103078426C	CNNM2	NM_017649.5(CNNM2):c.*1246G>C	noncoding	Benign
10	103089711	G	A	G103089711A	NT5C2	NM_017649.5(CNNM2):c.*12531G>A	coding	Benign
10	103090689	A	T	A103090689T	NT5C2	NM_001351169.2(NT5C2):c.1371T>A:p.Tyr457Ter	coding	Pathogenic
10	103091528	G	A	G103091528A	NT5C2	NM_012229.4(NT5C2):c.1211+36C>T	noncoding	Benign
10	103091544	G	T	G103091544T	NT5C2	NM_012229.4(NT5C2):c.1211+20C>A	noncoding	Benign
10	103091639	G	T	G103091639T	NT5C2	NM_012229.4(NT5C2):c.1160-24C>A	noncoding	Benign
10	103092891	G	A	G103092891A	NT5C2	NM_012229.4(NT5C2):c.1159+248C>T	noncoding	Benign
10	103093199	G	A	G103093199A	NT5C2	NM_001351169.2(NT5C2):c.1099C>T:p.Arg367Ter	coding	Pathogenic
10	103093221	T	C	T103093221C	NT5C2	NM_001351169.2(NT5C2):c.1077A>G:p.Lys359=	coding	Benign
10	103093310	C	A	C103093310A	NT5C2	NM_012229.4(NT5C2):c.989-1G>T	coding	Pathogenic
10	103095913	G	A	G103095913A	NT5C2	NM_012229.4(NT5C2):c.813+26C>T	noncoding	Benign
10	103097461	A	C	A103097461C	NT5C2	NM_012229.4(NT5C2):c.688-87T>G	noncoding	Benign
10	103097477	C	A	C103097477A	NT5C2	NM_012229.4(NT5C2):c.688-103G>T	noncoding	Benign
10	103100296	T	A	T103100296A	NT5C2	NM_012229.4(NT5C2):c.540-277A>T	noncoding	Benign
10	103101271	T	A	T103101271A	NT5C2	NM_001351176.1(NT5C2):c.-129A>T	coding	Pathogenic
10	103106305	C	T	C103106305T	NT5C2	NM_012229.4(NT5C2):c.293+284G>A	noncoding	Benign
10	103139405	C	T	C103139405T	NT5C2	NM_012229.4(NT5C2):c.175+1G>A	noncoding	Pathogenic
10	103174874	G	A	G103174874A	NT5C2	NM_001351175.1(NT5C2):c.-133C>T	coding	Pathogenic
10	103174952	T	C	T103174952C	NT5C2	NM_012229.4(NT5C2):c.7A>G:p.Thr3Ala	coding	Benign
10	103193250	C	G	C103193250G	NT5C2	NM_012229.4(NT5C2):c.-137G>C	noncoding	Benign
10	103381735	G	C	G103381735C	TAF5	NM_006951.5(TAF5):c.1428G>C:p.Val476=	coding	Benign
10	103392370	C	G	C103392370G	ATP5MK	NM_001206427.2(ATP5MK):c.87+1G>C	noncoding	Pathogenic
10	103458295	C	T	C103458295T	CALHM1	NM_001001412.4(CALHM1):c.457G>A:p.Ala153Thr	coding	Benign
10	103602114	C	T	C103602114T	SH3PXD2A	NM_014631.2(SH3PXD2A):c.3020G>A:p.Arg1007Gln	coding	Benign
10	103602184	C	T	C103602184T	SH3PXD2A	NM_014631.2(SH3PXD2A):c.2950G>A:p.Val984Ile	coding	Benign
10	103602380	C	T	C103602380T	SH3PXD2A	NM_014631.2(SH3PXD2A):c.2754G>A:p.Thr918=	coding	Benign
10	103603412	G	A	G103603412A	SH3PXD2A	NM_014631.2(SH3PXD2A):c.1722C>T:p.Arg574=	coding	Benign
10	103801274	A	C	A103801274C	SH3PXD2A	NM_014631.2(SH3PXD2A):c.153+8T>G	noncoding	Benign
10	103897723	C	T	C103897723T	STN1	NM_024928.5(STN1):c.582-4G>A	noncoding	Benign
10	103898989	C	A	C103898989A	STN1	NM_024928.5(STN1):c.469G>T:p.Asp157Tyr	coding	Pathogenic
10	103900115	C	G	C103900115G	STN1	NM_024928.5(STN1):c.404G>C:p.Arg135Thr	coding	Pathogenic
10	103900158	C	T	C103900158T	STN1	NM_024928.5(STN1):c.361G>A:p.Glu121Lys	coding	Benign
10	104003514	C	T	C104003514T	SLK	NM_014720.4(SLK):c.2336C>T:p.Ser779Leu	coding	Benign
10	104031597	C	T	C104031597T	COL17A1	NM_000494.4(COL17A1):c.*638G>A	noncoding	Benign
10	104032161	C	A	C104032161A	COL17A1	NM_000494.4(COL17A1):c.*74G>T	noncoding	Benign
10	104032171	C	G	C104032171G	COL17A1	NM_000494.4(COL17A1):c.*64G>C	noncoding	Benign
10	104032946	G	C	G104032946C	COL17A1	NM_000494.4(COL17A1):c.4317C>G:p.Pro1439=	coding	Benign/Likely_benign
10	104032959	G	A	G104032959A	COL17A1	NM_000494.4(COL17A1):c.4304C>T:p.Ala1435Val	coding	Benign/Likely_benign
10	104032967	A	G	A104032967G	COL17A1	NM_000494.4(COL17A1):c.4296T>C:p.Thr1432=	coding	Benign/Likely_benign
10	104033992	T	C	T104033992C	COL17A1	NM_000494.4(COL17A1):c.4109A>G:p.Asp1370Gly	coding	Benign
10	104034068	C	T	C104034068T	COL17A1	NM_000494.4(COL17A1):c.4033G>A:p.Gly1345Arg	coding	Benign/Likely_benign
10	104034073	G	A	G104034073A	COL17A1	NM_000494.4(COL17A1):c.4028C>T:p.Pro1343Leu	coding	Benign
10	104034193	C	T	C104034193T	COL17A1	NM_000494.4(COL17A1):c.3908G>A:p.Arg1303Gln	coding	Pathogenic
10	104034711	G	A	G104034711A	COL17A1	NM_000494.4(COL17A1):c.3676C>T:p.Arg1226Ter	coding	Pathogenic
10	104034754	T	C	T104034754C	COL17A1	NM_000494.4(COL17A1):c.3633A>G:p.Ser1211=	coding	Benign
10	104035282	G	A	G104035282A	COL17A1	NM_000494.4(COL17A1):c.3600C>T:p.Asp1200=	coding	Benign
10	104036641	G	C	G104036641C	COL17A1	NM_000494.4(COL17A1):c.3278-9C>G	noncoding	Benign
10	104037061	A	G	A104037061G	COL17A1	NM_000494.4(COL17A1):c.3261T>C:p.Ile1087=	coding	Benign
10	104037620	G	A	G104037620A	COL17A1	NM_000494.4(COL17A1):c.3208+16C>T	noncoding	Benign
10	104037688	G	A	G104037688A	COL17A1	NM_000494.4(COL17A1):c.3156C>T:p.Gly1052=	coding	Pathogenic
10	104037759	A	C	A104037759C	COL17A1	NM_000494.4(COL17A1):c.3085T>G:p.Ser1029Ala	coding	Benign
10	104038409	G	A	G104038409A	COL17A1	NM_000494.4(COL17A1):c.3067C>T:p.Gln1023Ter	coding	Pathogenic
10	104038430	G	A	G104038430A	COL17A1	NM_000494.4(COL17A1):c.3046C>T:p.Gln1016Ter	coding	Pathogenic
10	104039114	T	C	T104039114C	COL17A1	NM_000494.4(COL17A1):c.2904A>G:p.Pro968=	coding	Benign
10	104039458	G	T	G104039458T	COL17A1	NM_000494.4(COL17A1):c.2883C>A:p.Pro961=	coding	Benign
10	104039473	A	T	A104039473T	COL17A1	NM_000494.4(COL17A1):c.2868T>A:p.Pro956=	coding	Benign
10	104039613	G	A	G104039613A	COL17A1	NM_000494.4(COL17A1):c.2816C>T:p.Thr939Ile	coding	Pathogenic
10	104040357	C	T	C104040357T	COL17A1	NM_000494.4(COL17A1):c.2755G>A:p.Asp919Asn	coding	Benign
10	104040397	G	A	G104040397A	COL17A1	NM_000494.4(COL17A1):c.2715C>T:p.Ser905=	coding	Benign/Likely_benign
10	104040408	T	A	T104040408A	COL17A1	NM_000494.4(COL17A1):c.2704A>T:p.Thr902Ser	coding	Benign
10	104041472	C	T	C104041472T	COL17A1	NM_000494.4(COL17A1):c.2605+13G>A	noncoding	Benign
10	104041495	G	A	G104041495A	COL17A1	NM_000494.4(COL17A1):c.2595C>T:p.Arg865=	coding	Benign
10	104041504	G	A	G104041504A	COL17A1	NM_000494.4(COL17A1):c.2586C>T:p.Pro862=	coding	Benign/Likely_benign
10	104041526	A	C	A104041526C	COL17A1	NM_000494.4(COL17A1):c.2564T>G:p.Leu855Ter	coding	Pathogenic
10	104043852	C	A	C104043852A	COL17A1	NM_000494.4(COL17A1):c.2407G>T:p.Gly803Ter	coding	Pathogenic
10	104045739	C	T	C104045739T	COL17A1	NM_000494.4(COL17A1):c.2398+19G>A	noncoding	Benign
10	104046774	C	A	C104046774A	COL17A1	NM_000494.4(COL17A1):c.2336-1G>T	coding	Pathogenic
10	104047736	T	C	T104047736C	COL17A1	NM_000494.4(COL17A1):c.2335+3A>G	noncoding	Benign/Likely_benign
10	104048097	A	C	A104048097C	COL17A1	NM_000494.4(COL17A1):c.2235T>G:p.Ala745=	coding	Benign
10	104049428	G	A	G104049428A	COL17A1	NM_000494.4(COL17A1):c.2208C>T:p.Pro736=	coding	Benign
10	104050613	T	G	T104050613G	COL17A1	NM_000494.4(COL17A1):c.2128+8A>C	noncoding	Benign/Likely_benign
10	104050642	T	C	T104050642C	COL17A1	NM_000494.4(COL17A1):c.2107A>G:p.Met703Val	coding	Benign
10	104050843	C	T	C104050843T	COL17A1	NM_000494.4(COL17A1):c.2092+5G>A	noncoding	Benign
10	104050878	G	A	G104050878A	COL17A1	NM_000494.4(COL17A1):c.2062C>T:p.Arg688Ter	coding	Pathogenic
10	104051472	C	A	C104051472A	COL17A1	NM_000494.4(COL17A1):c.2038+9G>T	noncoding	Benign/Likely_benign
10	104053064	C	T	C104053064T	COL17A1	NM_000494.4(COL17A1):c.1906G>A:p.Gly636Arg	coding	Pathogenic
10	104053072	C	T	C104053072T	COL17A1	NM_000494.4(COL17A1):c.1898G>A:p.Gly633Asp	coding	Pathogenic
10	104055358	A	G	A104055358G	COL17A1	NM_000494.4(COL17A1):c.1717+14T>C	noncoding	Benign
10	104055879	C	T	C104055879T	COL17A1	NM_000494.4(COL17A1):c.1590G>A:p.Ala530=	coding	Benign/Likely_benign
10	104057016	C	T	C104057016T	COL17A1	NM_000494.4(COL17A1):c.1424G>A:p.Trp475Ter	coding	Pathogenic
10	104057104	C	T	C104057104T	COL17A1	NM_000494.4(COL17A1):c.1336G>A:p.Gly446Ser	coding	Benign/Likely_benign
10	104057133	C	T	C104057133T	COL17A1	NM_000494.4(COL17A1):c.1307G>A:p.Gly436Glu	coding	Benign
10	104057134	C	T	C104057134T	COL17A1	NM_000494.4(COL17A1):c.1306G>A:p.Gly436Arg	coding	Benign
10	104057158	C	T	C104057158T	COL17A1	NM_000494.4(COL17A1):c.1282G>A:p.Gly428Ser	coding	Benign
10	104058133	G	A	G104058133A	COL17A1	NM_000494.4(COL17A1):c.1267+13C>T	noncoding	Benign
10	104060198	G	A	G104060198A	COL17A1	NM_000494.4(COL17A1):c.1062C>T:p.Ala354=	coding	Benign
10	104064532	G	A	G104064532A	COL17A1	NM_000494.4(COL17A1):c.672C>T:p.Thr224=	coding	Benign/Likely_benign
10	104064542	C	T	C104064542T	COL17A1	NM_000494.4(COL17A1):c.662G>A:p.Trp221Ter	coding	Pathogenic
10	104064574	C	T	C104064574T	COL17A1	NM_000494.4(COL17A1):c.630G>A:p.Thr210=	coding	Benign
10	104064575	G	A	G104064575A	COL17A1	NM_000494.4(COL17A1):c.629C>T:p.Thr210Met	coding	Benign
10	104070427	C	G	C104070427G	COL17A1	NM_000494.4(COL17A1):c.606G>C:p.Ser202=	coding	Benign
10	104070467	C	G	C104070467G	COL17A1	NM_000494.4(COL17A1):c.566G>C:p.Gly189Ala	coding	Benign
10	104072035	G	A	G104072035A	COL17A1	NM_000494.4(COL17A1):c.460C>T:p.Arg154Ter	coding	Pathogenic
10	104072062	G	A	G104072062A	COL17A1	NM_000494.4(COL17A1):c.433C>T:p.Arg145Ter	coding	Pathogenic
10	104073241	A	G	A104073241G	COL17A1	NM_000494.4(COL17A1):c.384T>C:p.Ser128=	coding	Benign
10	104074232	C	T	C104074232T	COL17A1	NM_000494.4(COL17A1):c.332-1G>A	coding	Pathogenic
10	104076308	C	T	C104076308T	COL17A1	NM_000494.4(COL17A1):c.324G>A:p.Ala108=	coding	Benign/Likely_benign
10	104076418	G	A	G104076418A	COL17A1	NM_000494.4(COL17A1):c.214C>T:p.Arg72Ter	coding	Pathogenic
10	104077416	A	C	A104077416C	COL17A1	NM_000494.4(COL17A1):c.202+6T>G	noncoding	Benign
10	104078596	G	A	G104078596A	COL17A1	NM_000494.4(COL17A1):c.53-10C>T	noncoding	Benign
10	104080649	G	A	G104080649A	COL17A1	NM_000494.4(COL17A1):c.25C>T:p.Arg9Ter	coding	Pathogenic
10	104080664	T	C	T104080664C	COL17A1	NM_000494.4(COL17A1):c.10A>G:p.Thr4Ala	coding	Benign
10	104132169	G	C	G104132169C	CFAP43	NM_025145.6(CFAP43):c.4624C>G:p.Leu1542Val	coding	Benign
10	104132174	T	C	T104132174C	CFAP43	NM_025145.6(CFAP43):c.4619A>G:p.Glu1540Gly	coding	Benign
10	104143452	G	A	G104143452A	CFAP43	NM_025145.6(CFAP43):c.4132C>T:p.Arg1378Ter	coding	Pathogenic
10	104152728	T	G	T104152728G	CFAP43	NM_025145.6(CFAP43):c.3541-2A>C	noncoding	Pathogenic
10	104162023	G	A	G104162023A	CFAP43	NM_025145.6(CFAP43):c.3352C>T:p.Arg1118Ter	coding	Pathogenic
10	104166556	A	C	A104166556C	CFAP43	NM_025145.6(CFAP43):c.2971T>G:p.Ser991Ala	coding	Benign
10	104167627	A	T	A104167627T	CFAP43	NM_025145.6(CFAP43):c.2802T>A:p.Cys934Ter	coding	Pathogenic
10	104179083	C	T	C104179083T	CFAP43	NM_025145.6(CFAP43):c.2406G>A:p.Leu802=	coding	Benign
10	104182517	T	C	T104182517C	CFAP43	NM_025145.6(CFAP43):c.2142-4A>G	noncoding	Benign
10	104185057	C	A	C104185057A	CFAP43	NM_025145.6(CFAP43):c.2100G>T:p.Val700=	coding	Benign
10	104186115	G	A	G104186115A	CFAP43	NM_025145.6(CFAP43):c.1869C>T:p.Thr623=	coding	Benign
10	104186130	A	G	A104186130G	CFAP43	NM_025145.6(CFAP43):c.1861-7T>C	noncoding	Benign
10	104187334	G	A	G104187334A	CFAP43	NM_025145.6(CFAP43):c.1846C>T:p.Leu616Phe	coding	Benign
10	104187489	G	A	G104187489A	CFAP43	NM_025145.6(CFAP43):c.1691C>T:p.Ser564Phe	coding	Benign
10	104203727	A	G	A104203727G	CFAP43	NM_025145.6(CFAP43):c.1040T>C:p.Val347Ala	coding	Pathogenic
10	104207672	C	T	C104207672T	CFAP43	NM_025145.6(CFAP43):c.888G>A:p.Ser296=	coding	Benign
10	104207673	G	A	G104207673A	CFAP43	NM_025145.6(CFAP43):c.887C>T:p.Ser296Leu	coding	Benign
10	104207822	C	T	C104207822T	CFAP43	NM_025145.6(CFAP43):c.738G>A:p.Pro246=	coding	Benign
10	104212153	C	T	C104212153T	CFAP43	NM_025145.6(CFAP43):c.589G>A:p.Val197Met	coding	Benign
10	104225491	G	T	G104225491T	CFAP43	NM_025145.6(CFAP43):c.386C>A:p.Ser129Tyr	coding	Pathogenic
10	104230656	G	A	G104230656A	CFAP43	NM_025145.6(CFAP43):c.253C>T:p.Arg85Trp	coding	Pathogenic
10	104254948	G	A	G104254948A	GSTO1	NM_004832.3(GSTO1):c.20G>A:p.Arg7Lys	coding	Benign
10	104254967	G	A	G104254967A	GSTO1	NM_004832.3(GSTO1):c.34+5G>A	noncoding	Benign
10	104641362	G	A	G104641362A	SORCS3	NM_014978.3(SORCS3):c.35G>A:p.Arg12Lys	coding	Benign
10	104641421	G	A	G104641421A	SORCS3	NM_014978.3(SORCS3):c.94G>A:p.Gly32Ser	coding	Benign
10	104915823	T	G	T104915823G	SORCS3	NM_014978.3(SORCS3):c.696-10T>G	noncoding	Benign
10	105089802	G	A	G105089802A	SORCS3	NM_014978.3(SORCS3):c.1056G>A:p.Ala352=	coding	Benign
10	105105434	C	T	C105105434T	SORCS3	NM_014978.3(SORCS3):c.1131C>T:p.Ala377=	coding	Benign
10	105157183	G	A	G105157183A	SORCS3	NM_014978.3(SORCS3):c.1528G>A:p.Asp510Asn	coding	Benign
10	105255761	G	A	G105255761A	SORCS3	NM_014978.3(SORCS3):c.3297G>A:p.Pro1099=	coding	Benign
10	105262402	G	A	G105262402A	SORCS3	NM_014978.3(SORCS3):c.3515G>A:p.Ser1172Asn	coding	Benign
10	105262445	G	A	G105262445A	SORCS3	NM_014978.3(SORCS3):c.3558G>A:p.Thr1186=	coding	Benign
10	106652460	C	T	C106652460T	SORCS1	NM_001013031.3(SORCS1):c.2397G>A:p.Gly799=	coding	Benign
10	106652491	G	T	G106652491T	SORCS1	NM_001013031.3(SORCS1):c.2366C>A:p.Pro789Gln	coding	Benign
10	106688198	G	A	G106688198A	SORCS1	NM_001013031.3(SORCS1):c.1554C>T:p.Cys518=	coding	Benign
10	106688226	G	A	G106688226A	SORCS1	NM_001013031.3(SORCS1):c.1526C>T:p.Thr509Met	coding	Benign
10	106706548	G	A	G106706548A	SORCS1	NM_001013031.3(SORCS1):c.1230C>T:p.Pro410=	coding	Benign
10	106730090	T	C	T106730090C	SORCS1	NM_001013031.3(SORCS1):c.984A>G:p.Glu328=	coding	Benign
10	106730118	A	G	A106730118G	SORCS1	NM_001013031.3(SORCS1):c.960-4T>C	noncoding	Benign
10	110112885	T	C	T110112885C	ADD3	NM_016824.5(ADD3):c.304T>C:p.Ser102Pro	coding	Benign/Likely_benign
10	110117344	A	G	A110117344G	ADD3	NM_016824.5(ADD3):c.489A>G:p.Val163=	coding	Benign
10	110122249	G	A	G110122249A	ADD3	NM_016824.5(ADD3):c.1100G>A:p.Gly367Asp	coding	Pathogenic
10	110132308	C	G	C110132308G	ADD3	NM_016824.5(ADD3):c.1736C>G:p.Ala579Gly	coding	Benign
10	110133402	G	C	G110133402C	ADD3	NM_016824.5(ADD3):c.1905G>C:p.Met635Ile	coding	Benign
10	110228276	C	T	C110228276T	MXI1	NM_130439.3(MXI1):c.362C>T:p.Ala121Val	coding	Pathogenic
10	110279296	T	C	T110279296C	MXI1	NM_130439.3(MXI1):c.552+2T>C	noncoding	Pathogenic
10	110280017	A	C	A110280017C	MXI1	NM_130439.3(MXI1):c.656A>C:p.Glu219Ala	coding	Pathogenic
10	110498284	G	T	G110498284T	DUSP5	NM_004419.4(DUSP5):c.163G>T:p.Ala55Ser	coding	Benign
10	110510234	G	C	G110510234C	DUSP5	NM_004419.4(DUSP5):c.963G>C:p.Thr321=	coding	Benign
10	110567361	A	G	A110567361G	SMC3	NM_005445.3(SMC3):c.-456A>G	noncoding	Benign
10	110567718	C	A	C110567718A	SMC3	NM_005445.3(SMC3):c.-99C>A	noncoding	Benign
10	110567725	G	T	G110567725T	SMC3	NM_005445.3(SMC3):c.-92G>T	noncoding	Benign
10	110569080	C	G	C110569080G	SMC3	NM_005445.3(SMC3):c.91+67C>G	noncoding	Benign
10	110573514	G	A	G110573514A	SMC3	NM_005445.3(SMC3):c.92-193G>A	noncoding	Benign
10	110575344	T	C	T110575344C	SMC3	NM_005445.3(SMC3):c.139T>C:p.Phe47Leu	coding	Pathogenic
10	110575410	G	A	G110575410A	SMC3	NM_005445.4(SMC3):c.198+7G>A	noncoding	Benign
10	110577935	T	A	T110577935A	SMC3	NM_005445.3(SMC3):c.350+21T>A	noncoding	Benign
10	110578619	T	C	T110578619C	SMC3	NM_005445.3(SMC3):c.351-9T>C	noncoding	Benign
10	110581878	A	C	A110581878C	SMC3	NM_005445.3(SMC3):c.548-45A>C	noncoding	Benign
10	110582074	C	T	C110582074T	SMC3	NM_005445.4(SMC3):c.699C>T:p.Asn233=	coding	Benign
10	110583833	G	A	G110583833A	SMC3	NM_005445.3(SMC3):c.970-8G>A	noncoding	Benign
10	110584165	T	C	T110584165C	SMC3	NM_005445.3(SMC3):c.1092-18T>C	noncoding	Benign
10	110584175	T	G	T110584175G	SMC3	NM_005445.3(SMC3):c.1092-8T>G	noncoding	Benign/Likely_benign
10	110589446	A	G	A110589446G	SMC3	NM_005445.3(SMC3):c.1306-159A>G	noncoding	Benign
10	110589664	T	C	T110589664C	SMC3	NM_005445.3(SMC3):c.1365T>C:p.Tyr455=	coding	Benign
10	110589844	T	C	T110589844C	SMC3	NM_005445.3(SMC3):c.1410-48T>C	noncoding	Benign
10	110589944	G	A	G110589944A	SMC3	NM_005445.3(SMC3):c.1462G>A:p.Glu488Lys	coding	Pathogenic
10	110590985	A	G	A110590985G	SMC3	NM_005445.3(SMC3):c.1671-6A>G	noncoding	Benign/Likely_benign
10	110590987	T	C	T110590987C	SMC3	NM_005445.3(SMC3):c.1671-4T>C	noncoding	Benign
10	110593202	A	G	A110593202G	SMC3	NM_005445.3(SMC3):c.1942A>G:p.Met648Val	coding	Pathogenic/Likely_pathogenic
10	110596431	G	C	G110596431C	SMC3	NM_005445.3(SMC3):c.1997G>C:p.Gly666Ala	coding	Pathogenic
10	110596441	T	C	T110596441C	SMC3	NM_005445.3(SMC3):c.2007T>C:p.Tyr669=	coding	Benign/Likely_benign
10	110596573	G	A	G110596573A	SMC3	NM_005445.3(SMC3):c.2116+23G>A	noncoding	Benign
10	110598055	G	A	G110598055A	SMC3	NM_005445.3(SMC3):c.2117-84G>A	noncoding	Benign
10	110599982	A	T	A110599982T	SMC3	NM_005445.3(SMC3):c.2427+170A>T	noncoding	Benign
10	110600244	G	A	G110600244A	SMC3	NM_005445.3(SMC3):c.2428-195G>A	noncoding	Benign
10	110601136	T	A	T110601136A	SMC3	NM_005445.3(SMC3):c.2644+6T>A	noncoding	Benign/Likely_benign
10	110601178	A	G	A110601178G	SMC3	NM_005445.3(SMC3):c.2644+48A>G	noncoding	Benign
10	110601742	A	C	A110601742C	SMC3	NM_005445.3(SMC3):c.2750A>C:p.His917Pro	coding	Pathogenic
10	110602055	C	T	C110602055T	SMC3	NM_005445.3(SMC3):c.2982C>T:p.Ser994=	coding	Benign
10	110602112	A	G	A110602112G	SMC3	NM_005445.3(SMC3):c.3039A>G:p.Ser1013=	coding	Benign
10	110602261	G	T	G110602261T	SMC3	NM_005445.3(SMC3):c.3105+83G>T	noncoding	Benign
10	110602866	A	G	A110602866G	SMC3	NM_005445.3(SMC3):c.3339A>G:p.Gln1113=	coding	Benign/Likely_benign
10	110603203	T	A	T110603203A	SMC3	NM_005445.3(SMC3):c.3495T>A:p.Ala1165=	coding	Benign/Likely_benign
10	110604460	G	A	G110604460A	SMC3	NM_005445.3(SMC3):c.*158G>A	noncoding	Benign
10	110604599	T	A	T110604599A	SMC3	NM_005445.3(SMC3):c.*297T>A	noncoding	Benign
10	110604631	C	T	C110604631T	SMC3	NM_005445.3(SMC3):c.*329C>T	noncoding	Benign
10	110604634	A	G	A110604634G	SMC3	NM_005445.3(SMC3):c.*332A>G	noncoding	Benign
10	110644052	C	A	C110644052A	RBM20	NC_000010.11:g.110644052C>A	noncoding	Benign
10	110644544	G	A	G110644544A	RBM20	NM_001134363.3(RBM20):c.90G>A:p.Arg30=	coding	Benign
10	110644604	A	T	A110644604T	RBM20	NM_001134363.3(RBM20):c.150A>T:p.Pro50=	coding	Benign/Likely_benign
10	110644751	C	T	C110644751T	RBM20	NM_001134363.3(RBM20):c.191+106C>T	noncoding	Benign
10	110780864	A	C	A110780864C	RBM20	NM_001134363.3(RBM20):c.255A>C:p.Ser85=	coding	Benign
10	110781126	C	A	C110781126A	RBM20	NM_001134363.3(RBM20):c.517C>A:p.Pro173Thr	coding	Benign/Likely_benign
10	110781304	G	A	G110781304A	RBM20	NM_001134363.3(RBM20):c.695G>A:p.Gly232Asp	coding	Benign/Likely_benign
10	110781792	C	T	C110781792T	RBM20	NM_001134363.3(RBM20):c.1183C>T:p.Gln395Ter	coding	Pathogenic
10	110781918	T	C	T110781918C	RBM20	NM_001134363.3(RBM20):c.1275+34T>C	noncoding	Benign
10	110781920	G	A	G110781920A	RBM20	NM_001134363.3(RBM20):c.1275+36G>A	noncoding	Benign
10	110783107	A	G	A110783107G	RBM20	NM_001134363.3(RBM20):c.1276-259A>G	noncoding	Benign
10	110783459	G	A	G110783459A	RBM20	NM_001134363.3(RBM20):c.1337+32G>A	noncoding	Benign
10	110783587	G	A	G110783587A	RBM20	NM_001134363.3(RBM20):c.1337+160G>A	noncoding	Benign
10	110784104	A	G	A110784104G	RBM20	NM_001134363.3(RBM20):c.1338-237A>G	noncoding	Benign
10	110784305	A	C	A110784305C	RBM20	NM_001134363.3(RBM20):c.1338-36A>C	noncoding	Benign
10	110784367	C	T	C110784367T	RBM20	NM_001134363.3(RBM20):c.1364C>T:p.Ser455Leu	coding	Benign/Likely_benign
10	110784817	A	G	A110784817G	RBM20	NM_001134363.3(RBM20):c.1455A>G:p.Ser485=	coding	Benign/Likely_benign
10	110784897	C	T	C110784897T	RBM20	NM_001134363.3(RBM20):c.1527+8C>T	noncoding	Benign
10	110797303	A	G	A110797303G	RBM20	NM_001134363.3(RBM20):c.1528-205A>G	noncoding	Benign
10	110797597	G	T	G110797597T	RBM20	NM_001134363.3(RBM20):c.1617G>T:p.Gly539=	coding	Benign/Likely_benign
10	110797912	A	G	A110797912G	RBM20	NM_001134363.3(RBM20):c.1668+264A>G	noncoding	Benign
10	110799531	C	T	C110799531T	RBM20	NM_001134363.3(RBM20):c.1669-256C>T	noncoding	Benign
10	110799656	G	A	G110799656A	RBM20	NM_001134363.3(RBM20):c.1669-131G>A	noncoding	Benign
10	110810372	G	C	G110810372C	RBM20	NM_001134363.3(RBM20):c.1801-11G>C	noncoding	Benign/Likely_benign
10	110810485	T	C	T110810485C	RBM20	NM_001134363.3(RBM20):c.1880+23T>C	noncoding	Benign
10	110812275	C	T	C110812275T	RBM20	NM_001134363.3(RBM20):c.1881-3C>T	noncoding	Benign/Likely_benign
10	110812297	C	T	C110812297T	RBM20	NM_001134363.3(RBM20):c.1900C>T:p.Arg634Trp	coding	Pathogenic/Likely_pathogenic
10	110812298	G	A	G110812298A	RBM20	NM_001134363.3(RBM20):c.1901G>A:p.Arg634Gln	coding	Pathogenic
10	110812298	G	T	G110812298T	RBM20	NM_001134363.3(RBM20):c.1901G>T:p.Arg634Leu	coding	Pathogenic
10	110812303	C	A	C110812303A	RBM20	NM_001134363.3(RBM20):c.1906C>A:p.Arg636Ser	coding	Pathogenic/Likely_pathogenic
10	110812304	G	A	G110812304A	RBM20	NM_001134363.3(RBM20):c.1907G>A:p.Arg636His	coding	Pathogenic/Likely_pathogenic
10	110812306	A	G	A110812306G	RBM20	NM_001134363.3(RBM20):c.1909A>G:p.Ser637Gly	coding	Pathogenic
10	110812307	G	A	G110812307A	RBM20	NM_001134363.3(RBM20):c.1910G>A:p.Ser637Asn	coding	Pathogenic
10	110812310	C	G	C110812310G	RBM20	NM_001134363.3(RBM20):c.1913C>G:p.Pro638Arg	coding	Pathogenic
10	110812310	C	T	C110812310T	RBM20	NM_001134363.3(RBM20):c.1913C>T:p.Pro638Leu	coding	Pathogenic
10	110812311	G	A	G110812311A	RBM20	NM_001134363.3(RBM20):c.1914G>A:p.Pro638=	coding	Benign/Likely_benign
10	110812700	C	G	C110812700G	RBM20	NM_001134363.3(RBM20):c.2303C>G:p.Ser768Trp	coding	Benign
10	110812700	C	T	C110812700T	RBM20	NM_001134363.3(RBM20):c.2303C>T:p.Ser768Leu	coding	Benign/Likely_benign
10	110813115	T	C	T110813115C	RBM20	NM_001134363.3(RBM20):c.2550+168T>C	noncoding	Benign
10	110813172	G	A	G110813172A	RBM20	NM_001134363.3(RBM20):c.2550+225G>A	noncoding	Benign
10	110819905	C	T	C110819905T	RBM20	NM_001134363.3(RBM20):c.2551-167C>T	noncoding	Benign
10	110821122	C	T	C110821122T	RBM20	NM_001134363.3(RBM20):c.2656-153C>T	noncoding	Benign
10	110821328	T	A	T110821328A	RBM20	NM_001134363.3(RBM20):c.2709T>A:p.Thr903=	coding	Benign
10	110821333	T	A	T110821333A	RBM20	NM_001134363.3(RBM20):c.2714T>A:p.Met905Lys	coding	Pathogenic
10	110821356	G	A	G110821356A	RBM20	NM_001134363.3(RBM20):c.2737G>A:p.Glu913Lys	coding	Pathogenic/Likely_pathogenic
10	110821382	C	T	C110821382T	RBM20	NM_001134363.3(RBM20):c.2763C>T:p.Ile921=	coding	Benign
10	110821436	C	T	C110821436T	RBM20	NM_001134363.3(RBM20):c.2817C>T:p.Asp939=	coding	Benign
10	110821481	C	T	C110821481T	RBM20	NM_001134363.3(RBM20):c.2862C>T:p.Asp954=	coding	Benign/Likely_benign
10	110821523	C	T	C110821523T	RBM20	NM_001134363.3(RBM20):c.2904C>T:p.Ala968=	coding	Benign/Likely_benign
10	110821763	C	T	C110821763T	RBM20	NM_001134363.3(RBM20):c.3144C>T:p.Ser1048=	coding	Benign/Likely_benign
10	110821789	G	A	G110821789A	RBM20	NM_001134363.3(RBM20):c.3170G>A:p.Arg1057Gln	coding	Benign/Likely_benign
10	110822178	C	G	C110822178G	RBM20	NM_001134363.3(RBM20):c.3316+243C>G	noncoding	Benign
10	110823460	C	T	C110823460T	RBM20	NM_001134363.3(RBM20):c.3317-20C>T	noncoding	Benign
10	110823848	A	G	A110823848G	RBM20	NM_001134363.3(RBM20):c.3451+234A>G	noncoding	Benign
10	110830824	G	A	G110830824A	RBM20	NM_001134363.3(RBM20):c.3452-237G>A	noncoding	Benign
10	110831020	G	C	G110831020C	RBM20	NM_001134363.3(RBM20):c.3452-41G>C	noncoding	Benign
10	110831113	G	A	G110831113A	RBM20	NM_001134363.3(RBM20):c.3504G>A:p.Leu1168=	coding	Benign/Likely_benign
10	110831122	G	A	G110831122A	RBM20	NM_001134363.3(RBM20):c.3513G>A:p.Thr1171=	coding	Benign/Likely_benign
10	110831376	A	G	A110831376G	RBM20	NM_001134363.3(RBM20):c.3573+194A>G	noncoding	Benign
10	110835961	G	C	G110835961C	RBM20	NM_001134363.3(RBM20):c.3667G>C:p.Glu1223Gln	coding	Benign
10	110836426	C	T	C110836426T	RBM20	NM_001134363.3(RBM20):c.*448C>T	noncoding	Benign
10	110836524	C	T	C110836524T	RBM20	NM_001134363.3(RBM20):c.*546C>T	noncoding	Benign
10	110836812	G	T	G110836812T	RBM20	NM_001134363.3(RBM20):c.*834G>T	noncoding	Benign
10	110837082	G	A	G110837082A	RBM20	NM_001134363.3(RBM20):c.*1104G>A	noncoding	Benign
10	110837531	G	A	G110837531A	RBM20	NM_001134363.3(RBM20):c.*1553G>A	noncoding	Benign
10	110838844	C	T	C110838844T	RBM20	NM_001134363.3(RBM20):c.*2866C>T	noncoding	Benign
10	110881291	G	A	G110881291A	PDCD4	NM_014456.5(PDCD4):c.102G>A:p.Glu34=	coding	Benign
10	110894480	C	T	C110894480T	PDCD4	NM_014456.5(PDCD4):c.1167C>T:p.Ser389=	coding	Benign
10	110900466	A	C	A110900466C	BBIP1	NM_001195306.1(BBIP1):c.173T>G:p.Leu58Ter	coding	Pathogenic
10	110901541	G	A	G110901541A	BBIP1	NM_001195307.1(BBIP1):c.38-1015C>T	coding	Pathogenic
10	110964131	T	G	T110964131G	SHOC2	NM_007373.3(SHOC2):c.-228T>G	noncoding	Benign
10	110964180	T	A	T110964180A	SHOC2	NM_007373.4(SHOC2):c.-179T>A	noncoding	Benign/Likely_benign
10	110964200	T	C	T110964200C	SHOC2	NM_007373.4(SHOC2):c.-159T>C	noncoding	Benign
10	110964362	A	G	A110964362G	SHOC2	NM_007373.4(SHOC2):c.4A>G:p.Ser2Gly	coding	Pathogenic
10	110964368	A	C	A110964368C	SHOC2	NM_007373.4(SHOC2):c.10A>C:p.Ser4Arg	coding	Benign
10	110964815	C	T	C110964815T	SHOC2	NM_007373.3(SHOC2):c.457C>T:p.Leu153=	coding	Benign
10	110985612	G	T	G110985612T	SHOC2	NM_007373.3(SHOC2):c.704-16G>T	noncoding	Benign/Likely_benign
10	110985777	G	A	G110985777A	SHOC2	NM_007373.3(SHOC2):c.841+12G>A	noncoding	Benign/Likely_benign
10	110986008	T	C	T110986008C	SHOC2	NM_007373.3(SHOC2):c.841+243T>C	noncoding	Benign
10	111000459	C	T	C111000459T	SHOC2	NM_007373.3(SHOC2):c.886C>T:p.Leu296=	coding	Benign
10	111000467	A	C	A111000467C	SHOC2	NM_007373.3(SHOC2):c.894A>C:p.Ala298=	coding	Benign
10	111000786	A	G	A111000786G	SHOC2	NM_007373.3(SHOC2):c.972+241A>G	noncoding	Benign
10	111000813	T	C	T111000813C	SHOC2	NM_007373.3(SHOC2):c.972+268T>C	noncoding	Benign
10	111004803	A	G	A111004803G	SHOC2	NM_007373.3(SHOC2):c.1161+9A>G	noncoding	Benign/Likely_benign
10	111004836	T	C	T111004836C	SHOC2	NM_007373.3(SHOC2):c.1161+42T>C	noncoding	Benign
10	111007291	C	T	C111007291T	SHOC2	NM_007373.3(SHOC2):c.1162-240C>T	noncoding	Benign
10	111007515	T	G	T111007515G	SHOC2	NM_007373.3(SHOC2):c.1162-16T>G	noncoding	Benign/Likely_benign
10	111009092	A	C	A111009092C	SHOC2	NM_007373.3(SHOC2):c.1285-156A>C	noncoding	Benign
10	111009265	C	T	C111009265T	SHOC2	NM_007373.3(SHOC2):c.1302C>T:p.Asn434=	coding	Benign
10	111009706	C	T	C111009706T	SHOC2	NM_007373.4(SHOC2):c.1423-7C>T	noncoding	Benign
10	111011581	A	T	A111011581T	SHOC2	NM_007373.3(SHOC2):c.1541-29A>T	noncoding	Benign
10	111011663	A	G	A111011663G	SHOC2	NM_007373.3(SHOC2):c.1594A>G:p.Ser532Gly	coding	Benign
10	111011821	T	C	T111011821C	SHOC2	NM_007373.3(SHOC2):c.*3T>C	noncoding	Benign
10	111011834	C	A	C111011834A	SHOC2	NM_007373.3(SHOC2):c.*16C>A	noncoding	Benign
10	111011838	C	T	C111011838T	SHOC2	NM_007373.4(SHOC2):c.*20C>T	noncoding	Benign
10	111011982	T	A	T111011982A	SHOC2	NM_007373.3(SHOC2):c.*164T>A	noncoding	Benign
10	111012515	C	T	C111012515T	SHOC2	NM_007373.3(SHOC2):c.*697C>T	noncoding	Benign
10	111012591	G	A	G111012591A	SHOC2	NM_007373.3(SHOC2):c.*773G>A	noncoding	Benign
10	111012732	G	A	G111012732A	SHOC2	NM_007373.3(SHOC2):c.*914G>A	noncoding	Benign
10	111012924	A	C	A111012924C	SHOC2	NM_007373.3(SHOC2):c.*1106A>C	noncoding	Benign
10	111013141	C	T	C111013141T	SHOC2	NM_007373.3(SHOC2):c.*1323C>T	noncoding	Benign
10	111013301	G	A	G111013301A	SHOC2	NM_007373.3(SHOC2):c.*1483G>A	noncoding	Benign
10	111013321	A	G	A111013321G	SHOC2	NM_007373.3(SHOC2):c.*1503A>G	noncoding	Benign
10	111013593	T	C	T111013593C	SHOC2	NM_007373.3(SHOC2):c.*1775T>C	noncoding	Benign
10	111078221	G	C	G111078221C	ADRA2A	NM_000681.4(ADRA2A):c.225G>C:p.Thr75=	coding	Benign
10	111078377	C	G	C111078377G	ADRA2A	NM_000681.4(ADRA2A):c.381C>G:p.Leu127=	coding	Benign
10	111078890	C	G	C111078890G	ADRA2A	NM_000681.4(ADRA2A):c.894C>G:p.Ala298=	coding	Benign
10	112164573	G	A	G112164573A	GPAM	NM_001244949.2(GPAM):c.1259C>T:p.Ala420Val	coding	Benign
10	112166426	A	G	A112166426G	GPAM	NM_001244949.2(GPAM):c.1197T>C:p.Asp399=	coding	Benign
10	112395065	C	A	C112395065A	ACSL5	NM_016234.3(ACSL5):c.287C>A:p.Pro96His	coding	Benign
10	112408412	C	T	C112408412T	ACSL5	NM_016234.3(ACSL5):c.601-10C>T	noncoding	Benign
10	112416935	G	A	G112416935A	ACSL5	NM_016234.3(ACSL5):c.1299G>A:p.Leu433=	coding	Benign
10	112422015	A	G	A112422015G	ACSL5	NM_016234.3(ACSL5):c.1624A>G:p.Thr542Ala	coding	Benign
10	112438345	A	G	A112438345G	ZDHHC6	NM_022494.3(ZDHHC6):c.726T>C:p.Ile242=	coding	Benign
10	112440581	A	G	A112440581G	ZDHHC6	NM_022494.3(ZDHHC6):c.634T>C:p.Leu212=	coding	Benign
10	112440609	T	C	T112440609C	ZDHHC6	NM_022494.3(ZDHHC6):c.606A>G:p.Ala202=	coding	Benign
10	112950801	C	T	C112950801T	TCF7L2	NM_001146274.2(TCF7L2):c.45C>T:p.Asn15=	coding	Benign
10	112951574	C	T	C112951574T	TCF7L2	NM_001146274.2(TCF7L2):c.348C>T:p.Leu116=	coding	Benign
10	113165646	C	G	C113165646G	TCF7L2	NM_001146274.2(TCF7L2):c.1483C>G:p.Pro495Ala	coding	Benign
10	113165647	C	A	C113165647A	TCF7L2	NM_001146274.2(TCF7L2):c.1484C>A:p.Pro495His	coding	Benign
10	113165648	C	G	C113165648G	TCF7L2	NM_001146274.2(TCF7L2):c.1485C>G:p.Pro495=	coding	Benign
10	113165849	T	G	T113165849G	TCF7L2	NM_001146274.2(TCF7L2):c.1686T>G:p.Ala562=	coding	Benign
10	113165916	T	C	T113165916C	TCF7L2	NM_001146274.2(TCF7L2):c.1753T>C:p.Ser585Pro	coding	Benign
10	113574365	C	T	C113574365T	HABP2	NM_004132.5(HABP2):c.183C>T:p.His61=	coding	Benign
10	113575925	C	T	C113575925T	HABP2	NM_004132.5(HABP2):c.252C>T:p.His84=	coding	Benign/Likely_benign
10	113577182	C	T	C113577182T	HABP2	NM_004132.5(HABP2):c.364C>T:p.Arg122Trp	coding	Benign
10	113577223	C	A	C113577223A	HABP2	NM_004132.5(HABP2):c.405C>A:p.Arg135=	coding	Benign/Likely_benign
10	113578154	C	T	C113578154T	HABP2	NM_004132.5(HABP2):c.568+9C>T	noncoding	Benign/Likely_benign
10	113580684	C	T	C113580684T	HABP2	NM_004132.5(HABP2):c.830C>T:p.Ser277Leu	coding	Benign/Likely_benign
10	113581984	G	A	G113581984A	HABP2	NM_004132.5(HABP2):c.947G>A:p.Gly316Glu	coding	Benign/Likely_benign
10	113581994	G	A	G113581994A	HABP2	NM_004132.5(HABP2):c.957G>A:p.Lys319=	coding	Benign
10	113582087	G	A	G113582087A	HABP2	NM_004132.5(HABP2):c.1050G>A:p.Ala350=	coding	Benign
10	113589157	G	A	G113589157A	HABP2	NM_004132.5(HABP2):c.*788G>A	coding	Benign
10	113589529	G	A	G113589529A	HABP2	NM_004132.5(HABP2):c.*1160G>A	coding	Benign
10	113589708	C	T	C113589708T	NRAP	NM_198060.4(NRAP):c.5046G>A:p.Ala1682=	coding	Benign
10	113590607	C	A	C113590607A	NRAP	NM_198060.4(NRAP):c.4927G>T:p.Ala1643Ser	coding	Benign
10	113606257	T	A	T113606257A	NRAP	NM_198060.4(NRAP):c.3728A>T:p.Asp1243Val	coding	Benign
10	113615726	T	C	T113615726C	NRAP	NM_198060.4(NRAP):c.3064A>G:p.Met1022Val	coding	Benign
10	113626050	G	A	G113626050A	NRAP	NM_198060.4(NRAP):c.2241C>T:p.Ser747=	coding	Benign
10	113634103	G	T	G113634103T	NRAP	NM_198060.4(NRAP):c.1527+9C>A	noncoding	Benign
10	113634169	C	T	C113634169T	NRAP	NM_198060.4(NRAP):c.1470G>A:p.Ser490=	coding	Benign
10	113640317	A	G	A113640317G	NRAP	NM_198060.4(NRAP):c.1338T>C:p.Ala446=	coding	Benign
10	113641423	C	T	C113641423T	NRAP	NM_198060.4(NRAP):c.1265G>A:p.Gly422Glu	coding	Benign
10	113646915	G	T	G113646915T	NRAP	NM_198060.4(NRAP):c.993+8C>A	noncoding	Benign
10	113646932	G	A	G113646932A	NRAP	NM_198060.4(NRAP):c.984C>T:p.Leu328=	coding	Benign
10	113654092	C	A	C113654092A	NRAP	NM_198060.4(NRAP):c.394G>T:p.Ala132Ser	coding	Benign
10	113662689	G	A	G113662689A	NRAP	NM_198060.4(NRAP):c.245C>T:p.Ala82Val	coding	Benign
10	113662760	G	A	G113662760A	NRAP	NM_198060.4(NRAP):c.174C>T:p.Asn58=	coding	Benign
10	113725486	G	A	G113725486A	CASP7	NM_001227.5(CASP7):c.501G>A:p.Arg167=	coding	Benign
10	113876631	G	T	G113876631T	NHLRC2	NM_198514.4(NHLRC2):c.442G>T:p.Asp148Tyr	coding	Pathogenic
10	114044146	T	C	T114044146C	ADRB1	NM_000684.3(ADRB1):c.14T>C:p.Val5Ala	coding	Benign
10	114044339	G	A	G114044339A	ADRB1	NM_000684.3(ADRB1):c.207G>A:p.Val69=	coding	Benign
10	114044360	T	C	T114044360C	ADRB1	NM_000684.3(ADRB1):c.228T>C:p.Asn76=	coding	Benign
10	114044447	G	T	G114044447T	ADRB1	NM_000684.3(ADRB1):c.315G>T:p.Leu105=	coding	Benign
10	114044672	C	T	C114044672T	ADRB1	NM_000684.3(ADRB1):c.540C>T:p.Cys180=	coding	Benign
10	114044940	G	A	G114044940A	ADRB1	NM_000684.3(ADRB1):c.808G>A:p.Ala270Thr	coding	Benign
10	114045197	C	A	C114045197A	ADRB1	NM_000684.3(ADRB1):c.1065C>A:p.Pro355=	coding	Benign
10	114045277	A	G	A114045277G	ADRB1	NM_000684.3(ADRB1):c.1145A>G:p.Asp382Gly	coding	Benign
10	114045298	G	T	G114045298T	ADRB1	NM_000684.3(ADRB1):c.1166G>T:p.Gly389Val	coding	Benign
10	114135957	C	T	C114135957T	CCDC186	NM_018017.4(CCDC186):c.1446G>A:p.Lys482=	coding	Benign
10	114144515	A	G	A114144515G	CCDC186	NM_018017.4(CCDC186):c.1203T>C:p.Ala401=	coding	Benign
10	114227919	A	G	A114227919G	TDRD1	NM_198795.1(TDRD1):c.3413A>G:p.Tyr1138Cys	coding	Benign
10	114253700	C	T	C114253700T	VWA2	NM_001272046.2(VWA2):c.102C>T:p.Ile34=	coding	Benign
10	114255010	A	T	A114255010T	VWA2	NM_001272046.2(VWA2):c.223A>T:p.Ile75Phe	coding	Benign
10	114277941	C	T	C114277941T	VWA2	NM_001272046.2(VWA2):c.594C>T:p.Ser198=	coding	Benign
10	114278022	G	A	G114278022A	VWA2	NM_001272046.2(VWA2):c.675G>A:p.Ser225=	coding	Benign
10	114278053	A	C	A114278053C	VWA2	NM_001272046.2(VWA2):c.700+6A>C	noncoding	Benign
10	114278759	G	A	G114278759A	VWA2	NM_001272046.2(VWA2):c.741G>A:p.Leu247=	coding	Benign
10	114284966	C	T	C114284966T	VWA2	NM_001272046.2(VWA2):c.993C>T:p.Asn331=	coding	Benign
10	114285997	G	A	G114285997A	VWA2	NM_001272046.2(VWA2):c.1056G>A:p.Ala352=	coding	Benign
10	114286036	C	T	C114286036T	VWA2	NM_001272046.2(VWA2):c.1095C>T:p.Phe365=	coding	Benign
10	114286037	G	A	G114286037A	VWA2	NM_001272046.2(VWA2):c.1096G>A:p.Val366Met	coding	Benign
10	114286388	G	A	G114286388A	VWA2	NM_001272046.2(VWA2):c.1447G>A:p.Val483Met	coding	Benign
10	114286427	C	T	C114286427T	VWA2	NM_001272046.2(VWA2):c.1486C>T:p.His496Tyr	coding	Benign
10	114288999	C	T	C114288999T	VWA2	NM_001272046.2(VWA2):c.1632C>T:p.Pro544=	coding	Benign
10	114289138	C	T	C114289138T	VWA2	NM_001272046.2(VWA2):c.1771C>T:p.Arg591Trp	coding	Benign
10	114289411	C	T	C114289411T	VWA2	NM_001272046.2(VWA2):c.2044C>T:p.Arg682Trp	coding	Benign
10	114289440	C	T	C114289440T	VWA2	NM_001272046.2(VWA2):c.2073C>T:p.Tyr691=	coding	Benign
10	114290299	G	C	G114290299C	VWA2	NM_001272046.2(VWA2):c.2182G>C:p.Val728Leu	coding	Benign
10	114297337	G	A	G114297337A	AFAP1L2	NM_001001936.3(AFAP1L2):c.2190C>T:p.Arg730=	coding	Benign
10	114300643	C	T	C114300643T	AFAP1L2	NM_001001936.3(AFAP1L2):c.1590G>A:p.Glu530=	coding	Benign
10	115171112	A	G	A115171112G	ATRNL1	NM_207303.4(ATRNL1):c.1168A>G:p.Ile390Val	coding	Benign
10	116125244	G	A	G116125244A	GFRA1	NM_005264.6(GFRA1):c.747C>T:p.Ser249=	coding	Benign
10	116271115	T	G	T116271115G	GFRA1	NM_005264.6(GFRA1):c.41A>C:p.Asp14Ala	coding	Benign
10	116547343	A	C	A116547343C	PNLIP	NM_000936.4(PNLIP):c.96A>C:p.Pro32=	coding	Benign
10	116555268	C	T	C116555268T	PNLIP	NM_000936.4(PNLIP):c.662C>T:p.Thr221Met	coding	Pathogenic
10	116555494	C	T	C116555494T	PNLIP	NM_000936.4(PNLIP):c.798C>T:p.Asp266=	coding	Benign
10	116559207	T	C	T116559207C	PNLIP	NM_000936.4(PNLIP):c.984T>C:p.Ala328=	coding	Benign
10	116567759	C	T	C116567759T	PNLIP	NM_000936.4(PNLIP):c.1359C>T:p.Thr453=	coding	Benign
10	116876178	C	T	C116876178T	ENO4	NM_001242699.2(ENO4):c.1455C>T:p.Ile485=	coding	Benign
10	116911832	C	T	C116911832T	SHTN1	NM_001127211.3(SHTN1):c.1317G>A:p.Ser439=	coding	Benign
10	117134436	G	A	G117134436A	VAX1	NM_001112704.2(VAX1):c.577C>T:p.Leu193=	coding	Benign
10	117134559	G	T	G117134559T	VAX1	NM_001112704.2(VAX1):c.454C>A:p.Arg152Ser	coding	Pathogenic
10	117137931	G	A	G117137931A	VAX1	NM_001112704.2(VAX1):c.126C>T:p.Ala42=	coding	Benign
10	117209737	C	G	C117209737G	KCNK18	NM_181840.1(KCNK18):c.593C>G:p.Ala198Gly	coding	Benign
10	117209842	C	A	C117209842A	KCNK18	NM_181840.1(KCNK18):c.698C>A:p.Ala233Glu	coding	Benign
10	117209842	C	T	C117209842T	KCNK18	NM_181840.1(KCNK18):c.698C>T:p.Ala233Val	coding	Benign
10	117244052	C	T	C117244052T	SLC18A2	NM_003054.6(SLC18A2):c.203C>T:p.Thr68Ile	coding	Benign
10	117267681	T	C	T117267681C	SLC18A2	NM_003054.6(SLC18A2):c.1131T>C:p.Phe377=	coding	Benign
10	117267710	C	T	C117267710T	SLC18A2	NM_003054.6(SLC18A2):c.1160C>T:p.Pro387Leu	coding	Pathogenic
10	117374922	G	A	G117374922A	PDZD8	NM_173791.5(PDZD8):c.306C>T:p.Ile102=	coding	Benign
10	117543372	A	T	A117543372T	EMX2	NM_004098.4(EMX2):c.105A>T:p.Ala35=	coding	Benign/Likely_benign
10	117545628	G	T	G117545628T	EMX2	NM_004098.4(EMX2):c.407-4G>T	noncoding	Pathogenic
10	117545631	G	A	G117545631A	EMX2	NM_004098.4(EMX2):c.407-1G>A	noncoding	Pathogenic
10	117545691	C	A	C117545691A	EMX2	NM_004098.4(EMX2):c.466C>A:p.Arg156=	coding	Benign
10	117545822	T	C	T117545822C	EMX2	NM_004098.4(EMX2):c.591+6T>C	noncoding	Benign/Likely_benign
10	118594209	G	A	G118594209A	PRLHR	NM_004248.3(PRLHR):c.1036C>T:p.Leu346=	coding	Benign
10	119030036	T	A	T119030036A	NANOS1	NM_199461.4(NANOS1):c.235T>A:p.Ser79Thr	coding	Benign
10	119030548	T	C	T119030548C	NANOS1	NM_199461.4(NANOS1):c.747T>C:p.Cys249=	coding	Benign
10	119036114	A	T	A119036114T	EIF3A	NM_003750.4(EIF3A):c.4074T>A:p.Ala1358=	coding	Benign
10	119038287	T	G	T119038287G	EIF3A	NM_003750.4(EIF3A):c.3679A>C:p.Arg1227=	coding	Benign
10	119042396	T	A	T119042396A	EIF3A	NM_003750.4(EIF3A):c.3124A>T:p.Met1042Leu	coding	Benign
10	119042541	A	T	A119042541T	EIF3A	NM_003750.4(EIF3A):c.2979T>A:p.Asp993Glu	coding	Benign
10	119050579	T	C	T119050579C	EIF3A	NM_003750.4(EIF3A):c.2415A>G:p.Thr805=	coding	Benign
10	119050586	C	T	C119050586T	EIF3A	NM_003750.4(EIF3A):c.2408G>A:p.Arg803Lys	coding	Benign
10	119061235	G	T	G119061235T	EIF3A	NM_003750.4(EIF3A):c.1216C>A:p.Arg406=	coding	Benign
10	119061287	T	C	T119061287C	EIF3A	NM_003750.4(EIF3A):c.1164A>G:p.Lys388=	coding	Benign
10	119073061	G	C	G119073061C	EIF3A	NM_003750.4(EIF3A):c.378-8C>G	noncoding	Benign
10	119141316	G	A	G119141316A	SFXN4	NM_213649.2(SFXN4):c.940C>T:p.Gln314Ter	coding	Pathogenic
10	119147531	C	G	C119147531G	SFXN4	NM_213649.2(SFXN4):c.818+244G>C	noncoding	Benign
10	119147606	G	A	G119147606A	SFXN4	NM_213649.2(SFXN4):c.818+169C>T	noncoding	Benign
10	119147846	C	T	C119147846T	SFXN4	NM_213649.2(SFXN4):c.747G>A:p.Thr249=	coding	Benign
10	119154811	C	T	C119154811T	SFXN4	NM_213649.2(SFXN4):c.732+251G>A	noncoding	Benign
10	119155116	C	T	C119155116T	SFXN4	NM_213649.2(SFXN4):c.678G>A:p.Ala226=	coding	Benign
10	119155145	G	A	G119155145A	SFXN4	NM_213649.2(SFXN4):c.649C>T:p.Arg217Ter	coding	Pathogenic
10	119155180	G	A	G119155180A	SFXN4	NM_213649.2(SFXN4):c.617-3C>T	noncoding	Benign
10	119155181	T	C	T119155181C	SFXN4	NM_213649.2(SFXN4):c.617-4A>G	noncoding	Benign
10	119155478	T	C	T119155478C	SFXN4	NM_213649.2(SFXN4):c.617-301A>G	noncoding	Benign
10	119156920	C	T	C119156920T	SFXN4	NM_213649.2(SFXN4):c.538-164G>A	noncoding	Benign
10	119156955	A	G	A119156955G	SFXN4	NM_213649.2(SFXN4):c.538-199T>C	noncoding	Benign
10	119157027	T	C	T119157027C	SFXN4	NM_213649.2(SFXN4):c.538-271A>G	noncoding	Benign
10	119157870	C	T	C119157870T	SFXN4	NM_213649.2(SFXN4):c.471+1G>A	noncoding	Pathogenic
10	119157933	G	A	G119157933A	SFXN4	NM_213649.2(SFXN4):c.415-6C>T	noncoding	Benign
10	119158008	C	T	C119158008T	SFXN4	NM_213649.2(SFXN4):c.414+1G>A	noncoding	Pathogenic
10	119158346	T	C	T119158346C	SFXN4	NM_213649.2(SFXN4):c.361-284A>G	noncoding	Benign
10	119159438	C	T	C119159438T	SFXN4	NM_213649.2(SFXN4):c.360+290G>A	noncoding	Benign
10	119159722	G	C	G119159722C	SFXN4	NM_213649.2(SFXN4):c.360+6C>G	noncoding	Benign/Likely_benign
10	119161076	T	C	T119161076C	SFXN4	NM_213649.2(SFXN4):c.258A>G:p.Gln86=	coding	Benign
10	119161378	T	A	T119161378A	SFXN4	NM_213649.2(SFXN4):c.253-297A>T	noncoding	Benign
10	119162388	T	C	T119162388C	SFXN4	NM_213649.2(SFXN4):c.204A>G:p.Leu68=	coding	Benign
10	119165362	G	C	G119165362C	SFXN4	NM_213649.2(SFXN4):c.111+175C>G	noncoding	Benign
10	119165630	C	T	C119165630T	SFXN4	NM_213649.2(SFXN4):c.18G>A:p.Glu6=	coding	Benign/Likely_benign
10	119165641	G	A	G119165641A	SFXN4	NM_213649.2(SFXN4):c.7C>T:p.Leu3=	coding	Benign
10	119165921	G	C	G119165921C	SFXN4	NC_000010.11:g.119165921G>C	noncoding	Benign
10	119423182	C	T	C119423182T	GRK5	NM_005308.3(GRK5):c.356C>T:p.Ala119Val	coding	Benign
10	119423247	C	A	C119423247A	GRK5	NM_005308.3(GRK5):c.421C>A:p.Leu141Ile	coding	Benign
10	119423275	C	T	C119423275T	GRK5	NM_005308.3(GRK5):c.440+9C>T	noncoding	Benign
10	119443725	C	T	C119443725T	GRK5	NM_005308.3(GRK5):c.1239C>T:p.Ser413=	coding	Benign
10	119448130	C	T	C119448130T	GRK5	NM_005308.3(GRK5):c.1274C>T:p.Thr425Met	coding	Benign
10	119448198	T	C	T119448198C	GRK5	NM_005308.3(GRK5):c.1342T>C:p.Phe448Leu	coding	Benign
10	119651133	T	C	T119651133C	BAG3	NM_004281.3(BAG3):c.-543T>C	noncoding	Benign
10	119651158	C	T	C119651158T	BAG3	NM_004281.3(BAG3):c.-518C>T	noncoding	Benign
10	119651317	C	T	C119651317T	BAG3	NM_004281.3(BAG3):c.-359C>T	noncoding	Benign
10	119651626	C	T	C119651626T	BAG3	NM_004281.3(BAG3):c.-50C>T	noncoding	Benign
10	119651700	A	G	A119651700G	BAG3	NM_004281.4(BAG3):c.25A>G:p.Met9Val	coding	Benign/Likely_benign
10	119651752	G	A	G119651752A	BAG3	NM_004281.4(BAG3):c.77G>A:p.Trp26Ter	coding	Pathogenic/Likely_pathogenic
10	119651771	G	T	G119651771T	BAG3	NM_004281.3(BAG3):c.96G>T:p.Pro32=	coding	Benign/Likely_benign
10	119651783	G	A	G119651783A	BAG3	NM_004281.4(BAG3):c.108G>A:p.Trp36Ter	coding	Pathogenic
10	119651821	G	A	G119651821A	BAG3	NM_004281.3(BAG3):c.146G>A:p.Trp49Ter	coding	Pathogenic
10	119652119	G	A	G119652119A	BAG3	NM_004281.3(BAG3):c.180+264G>A	noncoding	Benign
10	119652124	C	G	C119652124G	BAG3	NM_004281.3(BAG3):c.180+269C>G	noncoding	Benign
10	119669560	A	G	A119669560G	BAG3	NM_004281.3(BAG3):c.181-291A>G	noncoding	Benign
10	119669744	A	G	A119669744G	BAG3	NM_004281.3(BAG3):c.181-107A>G	noncoding	Benign
10	119669842	T	A	T119669842A	BAG3	NM_004281.4(BAG3):c.181-9T>A	noncoding	Benign
10	119669857	C	G	C119669857G	BAG3	NM_004281.4(BAG3):c.187C>G:p.Pro63Ala	coding	Benign
10	119669882	G	A	G119669882A	BAG3	NM_004281.4(BAG3):c.212G>A:p.Arg71Gln	coding	Benign/Likely_benign
10	119669901	G	A	G119669901A	BAG3	NM_004281.4(BAG3):c.231G>A:p.Pro77=	coding	Benign/Likely_benign
10	119669928	C	G	C119669928G	BAG3	NM_004281.3(BAG3):c.258C>G:p.Tyr86Ter	coding	Pathogenic/Likely_pathogenic
10	119669932	C	T	C119669932T	BAG3	NM_004281.3(BAG3):c.262C>T:p.Gln88Ter	coding	Pathogenic
10	119669938	C	T	C119669938T	BAG3	NM_004281.3(BAG3):c.268C>T:p.Arg90Ter	coding	Pathogenic
10	119670037	C	T	C119670037T	BAG3	NM_004281.4(BAG3):c.367C>T:p.Arg123Ter	coding	Pathogenic/Likely_pathogenic
10	119670073	C	T	C119670073T	BAG3	NM_004281.4(BAG3):c.403C>T:p.Gln135Ter	coding	Pathogenic
10	119670121	T	C	T119670121C	BAG3	NM_004281.4(BAG3):c.451T>C:p.Cys151Arg	coding	Benign/Likely_benign
10	119670151	C	T	C119670151T	BAG3	NM_004281.3(BAG3):c.481C>T:p.Gln161Ter	coding	Pathogenic
10	119670168	C	T	C119670168T	BAG3	NM_004281.3(BAG3):c.498C>T:p.His166=	coding	Benign/Likely_benign
10	119670195	T	C	T119670195C	BAG3	NM_004281.3(BAG3):c.507+18T>C	noncoding	Benign
10	119672261	C	T	C119672261T	BAG3	NM_004281.3(BAG3):c.514C>T:p.Gln172Ter	coding	Pathogenic
10	119672284	C	A	C119672284A	BAG3	NM_004281.3(BAG3):c.537C>A:p.Cys179Ter	coding	Pathogenic
10	119672353	G	T	G119672353T	BAG3	NM_004281.4(BAG3):c.606G>T:p.Pro202=	coding	Benign/Likely_benign
10	119672372	C	T	C119672372T	BAG3	NM_004281.3(BAG3):c.625C>T:p.Pro209Ser	coding	Pathogenic
10	119672373	C	A	C119672373A	BAG3	NM_004281.3(BAG3):c.626C>A:p.Pro209Gln	coding	Pathogenic
10	119672373	C	T	C119672373T	BAG3	NM_004281.3(BAG3):c.626C>T:p.Pro209Leu	coding	Pathogenic/Likely_pathogenic
10	119672446	C	A	C119672446A	BAG3	NM_004281.3(BAG3):c.699C>A:p.Tyr233Ter	coding	Pathogenic
10	119672462	G	T	G119672462T	BAG3	NM_004281.4(BAG3):c.715G>T:p.Glu239Ter	coding	Pathogenic
10	119672477	C	T	C119672477T	BAG3	NM_004281.4(BAG3):c.730C>T:p.Gln244Ter	coding	Pathogenic/Likely_pathogenic
10	119672512	G	A	G119672512A	BAG3	NM_004281.4(BAG3):c.765G>A:p.Trp255Ter	coding	Pathogenic
10	119672519	C	T	C119672519T	BAG3	NM_004281.3(BAG3):c.772C>T:p.Arg258Trp	coding	Benign/Likely_benign
10	119672617	C	G	C119672617G	BAG3	NM_004281.4(BAG3):c.870C>G:p.Pro290=	coding	Benign/Likely_benign
10	119672645	G	A	G119672645A	BAG3	NM_004281.3(BAG3):c.898G>A:p.Asp300Asn	coding	Benign/Likely_benign
10	119672673	G	A	G119672673A	BAG3	NM_004281.3(BAG3):c.909+17G>A	noncoding	Benign
10	119672928	C	A	C119672928A	BAG3	NM_004281.3(BAG3):c.909+272C>A	noncoding	Benign
10	119676443	A	C	A119676443C	BAG3	NM_004281.3(BAG3):c.910-21A>C	noncoding	Benign
10	119676479	C	T	C119676479T	BAG3	NM_004281.4(BAG3):c.925C>T:p.Arg309Ter	coding	Pathogenic
10	119676500	C	T	C119676500T	BAG3	NM_004281.4(BAG3):c.946C>T:p.Gln316Ter	coding	Pathogenic
10	119676556	T	G	T119676556G	BAG3	NM_004281.4(BAG3):c.1002T>G:p.Pro334=	coding	Benign
10	119676611	C	T	C119676611T	BAG3	NM_004281.4(BAG3):c.1057C>T:p.Gln353Ter	coding	Pathogenic
10	119676692	C	T	C119676692T	BAG3	NM_004281.4(BAG3):c.1138C>T:p.Pro380Ser	coding	Benign/Likely_benign
10	119676774	C	T	C119676774T	BAG3	NM_004281.4(BAG3):c.1220C>T:p.Pro407Leu	coding	Benign
10	119676794	G	T	G119676794T	BAG3	NM_004281.3(BAG3):c.1240G>T:p.Glu414Ter	coding	Pathogenic
10	119676850	A	G	A119676850G	BAG3	NM_004281.4(BAG3):c.1296A>G:p.Val432=	coding	Benign
10	119676917	G	A	G119676917A	BAG3	NM_004281.4(BAG3):c.1363G>A:p.Glu455Lys	coding	Pathogenic/Likely_pathogenic
10	119677057	C	A	C119677057A	BAG3	NM_004281.3(BAG3):c.1503C>A:p.Val501=	coding	Benign/Likely_benign
10	119677313	C	T	C119677313T	BAG3	NM_004281.3(BAG3):c.*31C>T	noncoding	Benign/Likely_benign
10	119677500	G	C	G119677500C	BAG3	NM_004281.3(BAG3):c.*218G>C	noncoding	Benign
10	119677817	A	G	A119677817G	BAG3	NM_004281.3(BAG3):c.*535A>G	noncoding	Benign
10	119892915	G	A	G119892915A	SEC23IP	NM_007190.4(SEC23IP):c.133G>A:p.Ala45Thr	coding	Benign
10	119892930	C	T	C119892930T	SEC23IP	NM_007190.4(SEC23IP):c.148C>T:p.Leu50=	coding	Benign
10	119898593	A	G	A119898593G	SEC23IP	NM_007190.4(SEC23IP):c.330A>G:p.Gln110=	coding	Benign
10	119898888	C	T	C119898888T	SEC23IP	NM_007190.4(SEC23IP):c.625C>T:p.Pro209Ser	coding	Benign
10	119909036	T	A	T119909036A	SEC23IP	NM_007190.4(SEC23IP):c.1102-5T>A	noncoding	Benign
10	119926067	C	T	C119926067T	SEC23IP	NM_007190.4(SEC23IP):c.2153C>T:p.Ala718Val	coding	Benign
10	120862745	C	T	C120862745T	WDR11	NM_018117.12(WDR11):c.537C>T:p.Ser179=	coding	Benign
10	120865122	C	A	C120865122A	WDR11	NM_018117.12(WDR11):c.789C>A:p.Leu263=	coding	Benign
10	120866687	C	T	C120866687T	WDR11	NM_018117.12(WDR11):c.1113C>T:p.Ala371=	coding	Benign
10	120871178	G	A	G120871178A	WDR11	NM_018117.12(WDR11):c.1303G>A:p.Ala435Thr	coding	Pathogenic
10	120871246	G	A	G120871246A	WDR11	NM_018117.12(WDR11):c.1371G>A:p.Thr457=	coding	Benign
10	120871300	G	A	G120871300A	WDR11	NM_018117.12(WDR11):c.1425G>A:p.Pro475=	coding	Benign/Likely_benign
10	120883843	C	G	C120883843G	WDR11	NM_018117.12(WDR11):c.1803C>G:p.Thr601=	coding	Benign
10	120885909	G	A	G120885909A	WDR11	NM_018117.12(WDR11):c.1944G>A:p.Glu648=	coding	Benign
10	120902252	C	G	C120902252G	WDR11	NM_018117.12(WDR11):c.2688-5C>G	noncoding	Benign
10	120904106	A	G	A120904106G	WDR11	NM_018117.12(WDR11):c.2991A>G:p.Thr997=	coding	Benign
10	120905902	C	T	C120905902T	WDR11	NM_018117.12(WDR11):c.3318C>T:p.Ala1106=	coding	Benign
10	120908669	T	C	T120908669C	WDR11	NM_018117.12(WDR11):c.3631T>C:p.Leu1211=	coding	Benign
10	121478538	T	C	T121478538C	FGFR2	NM_000141.5(FGFR2):c.*1319A>G	noncoding	Benign/Likely_benign
10	121478556	G	A	G121478556A	FGFR2	NM_000141.5(FGFR2):c.*1301C>T	noncoding	Benign/Likely_benign
10	121479388	C	T	C121479388T	FGFR2	NM_000141.5(FGFR2):c.*469G>A	noncoding	Benign
10	121479454	T	C	T121479454C	FGFR2	NM_000141.5(FGFR2):c.*403A>G	noncoding	Benign/Likely_benign
10	121479533	T	C	T121479533C	FGFR2	NM_000141.5(FGFR2):c.*324A>G	noncoding	Benign/Likely_benign
10	121479598	G	A	G121479598A	FGFR2	NM_000141.5(FGFR2):c.*259C>T	coding	Benign
10	121479673	G	A	G121479673A	FGFR2	NM_000141.5(FGFR2):c.*184C>T	coding	Benign/Likely_benign
10	121479908	G	A	G121479908A	FGFR2	NM_000141.5(FGFR2):c.2415C>T:p.Tyr805=	coding	Benign/Likely_benign
10	121481859	C	T	C121481859T	FGFR2	NM_022970.3(FGFR2):c.2305-1838G>A	coding	Benign
10	121482512	T	C	T121482512C	FGFR2	NM_022970.3(FGFR2):c.2304+1186A>G	noncoding	Benign
10	121483683	G	A	G121483683A	FGFR2	NM_022970.3(FGFR2):c.2304+15C>T	noncoding	Benign
10	121483767	G	A	G121483767A	FGFR2	NM_000141.5(FGFR2):c.2232C>T:p.Pro744=	coding	Benign
10	121487098	G	A	G121487098A	FGFR2	NM_022970.3(FGFR2):c.2060+256C>T	noncoding	Benign
10	121487410	G	C	G121487410C	FGFR2	NM_000141.5(FGFR2):c.2001C>G:p.Val667=	coding	Benign/Likely_benign
10	121487984	G	A	G121487984A	FGFR2	NM_022970.3(FGFR2):c.1989+7C>T	noncoding	Benign/Likely_benign
10	121488000	C	G	C121488000G	FGFR2	NM_000141.5(FGFR2):c.1977G>C:p.Lys659Asn	coding	Pathogenic
10	121488035	C	T	C121488035T	FGFR2	NM_000141.5(FGFR2):c.1942G>A:p.Ala648Thr	coding	Pathogenic
10	121488036	G	A	G121488036A	FGFR2	NM_000141.5(FGFR2):c.1941C>T:p.Leu647=	coding	Benign
10	121488055	T	C	T121488055C	FGFR2	NM_000141.5(FGFR2):c.1922A>G:p.Lys641Arg	coding	Pathogenic/Likely_pathogenic
10	121488095	C	T	C121488095T	FGFR2	NM_000141.5(FGFR2):c.1882G>A:p.Ala628Thr	coding	Pathogenic
10	121488130	A	C	A121488130C	FGFR2	NM_022970.3(FGFR2):c.1867-17T>G	noncoding	Benign
10	121496607	C	T	C121496607T	FGFR2	NM_000141.5(FGFR2):c.1788G>A:p.Glu596=	coding	Benign/Likely_benign
10	121496634	G	A	G121496634A	FGFR2	NM_000141.5(FGFR2):c.1761C>T:p.Ser587=	coding	Benign
10	121496734	G	A	G121496734A	FGFR2	NM_022970.3(FGFR2):c.1676-12C>T	noncoding	Benign/Likely_benign
10	121498591	T	C	T121498591C	FGFR2	NM_000141.5(FGFR2):c.1576A>G:p.Lys526Glu	coding	Pathogenic
10	121498595	T	C	T121498595C	FGFR2	NM_000141.5(FGFR2):c.1572A>G:p.Thr524=	coding	Benign/Likely_benign
10	121500839	C	T	C121500839T	FGFR2	NM_000141.5(FGFR2):c.1548G>A:p.Val516=	coding	Benign/Likely_benign
10	121500843	G	A	G121500843A	FGFR2	NM_000141.5(FGFR2):c.1544C>T:p.Ala515Val	coding	Pathogenic
10	121500848	G	A	G121500848A	FGFR2	NM_000141.5(FGFR2):c.1539C>T:p.Thr513=	coding	Benign/Likely_benign
10	121503964	C	G	C121503964G	FGFR2	NM_022970.3(FGFR2):c.1291-23G>C	noncoding	Benign
10	121504102	C	T	C121504102T	FGFR2	NM_022970.3(FGFR2):c.1291-161G>A	noncoding	Benign
10	121515232	A	C	A121515232C	FGFR2	NM_000141.5(FGFR2):c.1172T>G:p.Met391Arg	coding	Pathogenic
10	121515254	C	T	C121515254T	FGFR2	NM_000141.5(FGFR2):c.1150G>A:p.Gly384Arg	coding	Pathogenic
10	121515263	A	C	A121515263C	FGFR2	NM_000141.5(FGFR2):c.1141T>G:p.Tyr381Asp	coding	Pathogenic
10	121515280	T	C	T121515280C	FGFR2	NM_000141.5(FGFR2):c.1124A>G:p.Tyr375Cys	coding	Pathogenic/Likely_pathogenic
10	121515289	G	C	G121515289C	FGFR2	NM_000141.5(FGFR2):c.1115C>G:p.Ser372Cys	coding	Pathogenic/Likely_pathogenic
10	121515332	T	A	T121515332A	FGFR2	NM_022970.3(FGFR2):c.1088-13A>T	noncoding	Benign/Likely_benign
10	121517316	T	C	T121517316C	FGFR2	NM_022970.3(FGFR2):c.1087+1366A>G	noncoding	Pathogenic
10	121517342	G	C	G121517342C	FGFR2	NM_000141.5(FGFR2):c.1061C>G:p.Ser354Cys	coding	Pathogenic
10	121517351	G	C	G121517351C	FGFR2	NM_000141.5(FGFR2):c.1052C>G:p.Ser351Cys	coding	Pathogenic
10	121517363	G	C	G121517363C	FGFR2	NM_000141.5(FGFR2):c.1040C>G:p.Ser347Cys	coding	Pathogenic/Likely_pathogenic
10	121517371	C	T	C121517371T	FGFR2	NM_000141.5(FGFR2):c.1032G>A:p.Ala344=	coding	Pathogenic
10	121517372	G	C	G121517372C	FGFR2	NM_000141.5(FGFR2):c.1031C>G:p.Ala344Gly	coding	Pathogenic
10	121517377	G	C	G121517377C	FGFR2	NM_000141.5(FGFR2):c.1026C>G:p.Cys342Trp	coding	Pathogenic
10	121517378	C	A	C121517378A	FGFR2	NM_000141.5(FGFR2):c.1025G>T:p.Cys342Phe	coding	Pathogenic
10	121517378	C	G	C121517378G	FGFR2	NM_000141.5(FGFR2):c.1025G>C:p.Cys342Ser	coding	Pathogenic
10	121517378	C	T	C121517378T	FGFR2	NM_000141.5(FGFR2):c.1025G>A:p.Cys342Tyr	coding	Pathogenic/Likely_pathogenic
10	121517379	A	C	A121517379C	FGFR2	NM_000141.5(FGFR2):c.1024T>G:p.Cys342Gly	coding	Pathogenic
10	121517379	A	G	A121517379G	FGFR2	NM_000141.5(FGFR2):c.1024T>C:p.Cys342Arg	coding	Pathogenic
10	121517379	A	T	A121517379T	FGFR2	NM_000141.5(FGFR2):c.1024T>A:p.Cys342Ser	coding	Pathogenic
10	121517382	T	G	T121517382G	FGFR2	NM_000141.5(FGFR2):c.1021A>C:p.Thr341Pro	coding	Pathogenic
10	121517384	T	C	T121517384C	FGFR2	NM_000141.5(FGFR2):c.1019A>G:p.Tyr340Cys	coding	Pathogenic
10	121517385	A	G	A121517385G	FGFR2	NM_000141.5(FGFR2):c.1018T>C:p.Tyr340His	coding	Pathogenic
10	121517390	C	T	C121517390T	FGFR2	NM_000141.5(FGFR2):c.1013G>A:p.Gly338Glu	coding	Pathogenic/Likely_pathogenic
10	121517391	C	G	C121517391G	FGFR2	NM_000141.5(FGFR2):c.1012G>C:p.Gly338Arg	coding	Pathogenic
10	121517394	C	G	C121517394G	FGFR2	NM_000141.5(FGFR2):c.1009G>C:p.Ala337Pro	coding	Pathogenic
10	121517396	T	C	T121517396C	FGFR2	NM_000141.5(FGFR2):c.1007A>G:p.Asp336Gly	coding	Pathogenic/Likely_pathogenic
10	121517420	T	C	T121517420C	FGFR2	NM_000141.5(FGFR2):c.983A>G:p.Tyr328Cys	coding	Pathogenic
10	121517433	T	C	T121517433C	FGFR2	NM_000141.5(FGFR2):c.970A>G:p.Ile324Val	coding	Benign
10	121517441	T	G	T121517441G	FGFR2	NM_000141.5(FGFR2):c.962A>C:p.Asp321Ala	coding	Pathogenic
10	121517460	C	A	C121517460A	FGFR2	NM_000141.5(FGFR2):c.943G>T:p.Ala315Ser	coding	Pathogenic
10	121517463	C	A	C121517463A	FGFR2	NM_000141.5(FGFR2):c.940G>T:p.Ala314Ser	coding	Pathogenic
10	121517464	C	T	C121517464T	FGFR2	NM_022970.3(FGFR2):c.1087+1218G>A	coding	Pathogenic
10	121517465	T	C	T121517465C	FGFR2	NM_022970.3(FGFR2):c.1087+1217A>G	noncoding	Pathogenic
10	121519968	A	G	A121519968G	FGFR2	NM_022970.3(FGFR2):c.939+11T>C	noncoding	Benign/Likely_benign
10	121519995	T	C	T121519995C	FGFR2	NM_000141.5(FGFR2):c.923A>G:p.Tyr308Cys	coding	Pathogenic
10	121520039	G	A	G121520039A	FGFR2	NM_000141.5(FGFR2):c.879C>T:p.His293=	coding	Benign/Likely_benign
10	121520044	T	C	T121520044C	FGFR2	NM_000141.5(FGFR2):c.874A>G:p.Lys292Glu	coding	Pathogenic
10	121520048	C	A	C121520048A	FGFR2	NM_000141.5(FGFR2):c.870G>T:p.Trp290Cys	coding	Pathogenic
10	121520048	C	G	C121520048G	FGFR2	NM_000141.5(FGFR2):c.870G>C:p.Trp290Cys	coding	Pathogenic
10	121520049	C	G	C121520049G	FGFR2	NM_000141.5(FGFR2):c.869G>C:p.Trp290Ser	coding	Pathogenic
10	121520050	A	C	A121520050C	FGFR2	NM_000141.5(FGFR2):c.868T>G:p.Trp290Gly	coding	Pathogenic
10	121520050	A	G	A121520050G	FGFR2	NM_000141.5(FGFR2):c.868T>C:p.Trp290Arg	coding	Pathogenic
10	121520052	T	G	T121520052G	FGFR2	NM_000141.5(FGFR2):c.866A>C:p.Gln289Pro	coding	Pathogenic
10	121520055	A	T	A121520055T	FGFR2	NM_000141.5(FGFR2):c.863T>A:p.Ile288Asn	coding	Pathogenic
10	121520085	C	A	C121520085A	FGFR2	NM_000141.5(FGFR2):c.833G>T:p.Cys278Phe	coding	Pathogenic
10	121520085	C	T	C121520085T	FGFR2	NM_000141.5(FGFR2):c.833G>A:p.Cys278Tyr	coding	Pathogenic
10	121520092	A	C	A121520092C	FGFR2	NM_000141.5(FGFR2):c.826T>G:p.Phe276Val	coding	Pathogenic/Likely_pathogenic
10	121520106	C	A	C121520106A	FGFR2	NM_000141.5(FGFR2):c.812G>T:p.Gly271Val	coding	Pathogenic/Likely_pathogenic
10	121520119	A	G	A121520119G	FGFR2	NM_000141.5(FGFR2):c.799T>C:p.Ser267Pro	coding	Pathogenic
10	121520129	C	T	C121520129T	FGFR2	NM_000141.5(FGFR2):c.789G>A:p.Pro263=	coding	Benign
10	121520160	G	C	G121520160C	FGFR2	NM_000141.5(FGFR2):c.758C>G:p.Pro253Arg	coding	Pathogenic
10	121520163	G	A	G121520163A	FGFR2	NM_000141.5(FGFR2):c.755C>T:p.Ser252Leu	coding	Benign/Likely_benign
10	121520163	G	C	G121520163C	FGFR2	NM_000141.5(FGFR2):c.755C>G:p.Ser252Trp	coding	Pathogenic
10	121520352	C	T	C121520352T	FGFR2	NM_022970.3(FGFR2):c.749-183G>A	noncoding	Benign
10	121538644	T	C	T121538644C	FGFR2	NM_000141.5(FGFR2):c.696A>G:p.Val232=	coding	Benign
10	121551150	A	G	A121551150G	FGFR2	NM_022970.3(FGFR2):c.624+140T>C	noncoding	Benign
10	121551151	T	C	T121551151C	FGFR2	NM_022970.3(FGFR2):c.624+139A>G	noncoding	Benign
10	121551357	A	G	A121551357G	FGFR2	NM_000141.5(FGFR2):c.557T>C:p.Met186Thr	coding	Benign
10	121551774	A	T	A121551774T	FGFR2	NM_022970.3(FGFR2):c.455-315T>A	noncoding	Benign
10	121564488	G	A	G121564488A	FGFR2	NM_000141.5(FGFR2):c.454+14C>T	noncoding	Benign/Likely_benign
10	121565500	T	C	T121565500C	FGFR2	NM_022970.3(FGFR2):c.314A>G:p.Tyr105Cys	coding	Pathogenic
10	121565520	C	T	C121565520T	FGFR2	NM_022970.3(FGFR2):c.294G>A:p.Thr98=	coding	Benign/Likely_benign
10	121565644	G	A	G121565644A	FGFR2	NM_022970.3(FGFR2):c.170C>T:p.Ser57Leu	coding	Benign/Likely_benign
10	121565655	C	T	C121565655T	FGFR2	NM_022970.3(FGFR2):c.159G>A:p.Ala53=	coding	Benign/Likely_benign
10	121565758	G	A	G121565758A	FGFR2	NM_022970.3(FGFR2):c.110-54C>T	noncoding	Benign/Likely_benign
10	121593699	A	C	A121593699C	FGFR2	NM_022970.3(FGFR2):c.109+10T>G	noncoding	Benign/Likely_benign
10	121593754	G	A	G121593754A	FGFR2	NM_000141.5(FGFR2):c.64C>T:p.Arg22Trp	coding	Benign
10	121593801	C	G	C121593801G	FGFR2	NM_000141.5(FGFR2):c.17G>C:p.Arg6Pro	coding	Benign
10	121593863	C	T	C121593863T	FGFR2	NM_000141.5(FGFR2):c.-46G>A	noncoding	Benign/Likely_benign
10	121593878	C	A	C121593878A	FGFR2	NM_000141.5(FGFR2):c.-61G>T	noncoding	Benign/Likely_benign
10	121593891	C	T	C121593891T	FGFR2	NM_000141.5(FGFR2):c.-74G>A	noncoding	Benign/Likely_benign
10	121594489	G	A	G121594489A	FGFR2	NM_022970.3(FGFR2):c.-150-522C>T	noncoding	Benign
10	121597968	T	C	T121597968C	FGFR2	NM_000141.5(FGFR2):c.-157A>G	noncoding	Benign
10	121598047	C	G	C121598047G	FGFR2	NM_000141.5(FGFR2):c.-236G>C	noncoding	Benign
10	121598047	C	T	C121598047T	FGFR2	NM_000141.5(FGFR2):c.-236G>A	noncoding	Benign
10	121598129	C	G	C121598129G	FGFR2	NM_000141.5(FGFR2):c.-318G>C	noncoding	Benign
10	121598169	G	A	G121598169A	FGFR2	NM_000141.5(FGFR2):c.-358C>T	noncoding	Benign/Likely_benign
10	121598269	G	T	G121598269T	FGFR2	NM_000141.5(FGFR2):c.-458C>A	noncoding	Benign
10	122082952	C	T	C122082952T	TACC2	NM_206862.4(TACC2):c.452C>T:p.Ala151Val	coding	Benign
10	122086422	C	A	C122086422A	TACC2	NM_206862.4(TACC2):c.3922C>A:p.Gln1308Lys	coding	Benign
10	122087107	C	T	C122087107T	TACC2	NM_206862.4(TACC2):c.4607C>T:p.Ala1536Val	coding	Benign
10	122087188	C	G	C122087188G	TACC2	NM_206862.4(TACC2):c.4688C>G:p.Pro1563Arg	coding	Benign
10	122087592	G	T	G122087592T	TACC2	NM_206862.4(TACC2):c.5092G>T:p.Val1698Leu	coding	Benign
10	122195143	G	A	G122195143A	TACC2	NM_206862.4(TACC2):c.5938G>A:p.Glu1980Lys	coding	Benign
10	122211211	C	T	C122211211T	TACC2	NM_206862.4(TACC2):c.6786C>T:p.Ser2262=	coding	Benign
10	122248749	C	T	C122248749T	TACC2	NM_206862.4(TACC2):c.8499C>T:p.Ala2833=	coding	Benign
10	122424194	G	T	G122424194T	PLEKHA1	NM_001001974.3(PLEKHA1):c.682-5G>T	noncoding	Benign
10	122454735	G	A	G122454735A	ARMS2	NM_001099667.3(ARMS2):c.8G>A:p.Arg3His	coding	Benign
10	122454839	C	T	C122454839T	ARMS2	NM_001099667.3(ARMS2):c.112C>T:p.Arg38Ter	coding	Benign
10	122454932	G	T	G122454932T	ARMS2	NM_001099667.3(ARMS2):c.205G>T:p.Ala69Ser	coding	Benign
10	122456894	A	G	A122456894G	ARMS2	NM_001099667.3(ARMS2):c.298-13A>G	noncoding	Benign/Likely_benign
10	122456894	A	T	A122456894T	ARMS2	NM_001099667.3(ARMS2):c.298-13A>T	noncoding	Benign/Likely_benign
10	122457306	T	G	T122457306G	ARMS2	NM_001099667.3(ARMS2):c.*373T>G	noncoding	Benign/Likely_benign
10	122457307	G	T	G122457307T	ARMS2	NM_001099667.3(ARMS2):c.*374G>T	noncoding	Benign
10	122457309	T	C	T122457309C	ARMS2	NM_001099667.3(ARMS2):c.*376T>C	noncoding	Benign/Likely_benign
10	122457318	A	C	A122457318C	ARMS2	NM_001099667.3(ARMS2):c.*385A>C	noncoding	Benign/Likely_benign
10	122461711	C	T	C122461711T	HTRA1;ARMS2	NM_002775.5(HTRA1):c.59C>T:p.Ala20Val	coding	Benign/Likely_benign
10	122461729	G	A	G122461729A	HTRA1;ARMS2	NM_002775.5(HTRA1):c.77G>A:p.Arg26Gln	coding	Benign/Likely_benign
10	122461754	C	T	C122461754T	HTRA1;ARMS2	NM_002775.5(HTRA1):c.102C>T:p.Ala34=	coding	Benign/Likely_benign
10	122461760	G	C	G122461760C	HTRA1;ARMS2	NM_002775.5(HTRA1):c.108G>C:p.Gly36=	coding	Benign/Likely_benign
10	122461760	G	T	G122461760T	HTRA1;ARMS2	NM_002775.5(HTRA1):c.108G>T:p.Gly36=	coding	Benign/Likely_benign
10	122461989	G	T	G122461989T	HTRA1	NM_002775.5(HTRA1):c.337G>T:p.Ala113Ser	coding	Benign
10	122488894	G	T	G122488894T	HTRA1	NM_002775.5(HTRA1):c.473-8G>T	noncoding	Benign
10	122488926	G	T	G122488926T	HTRA1	NM_002775.5(HTRA1):c.497G>T:p.Arg166Leu	coding	Pathogenic
10	122488946	G	C	G122488946C	HTRA1	NM_002775.5(HTRA1):c.517G>C:p.Ala173Pro	coding	Pathogenic
10	122489438	C	T	C122489438T	HTRA1	NM_002775.5(HTRA1):c.589C>T:p.Arg197Ter	coding	Pathogenic
10	122489463	C	G	C122489463G	HTRA1	NM_002775.5(HTRA1):c.614C>G:p.Ser205Cys	coding	Pathogenic
10	122489602	C	T	C122489602T	HTRA1	NM_002775.5(HTRA1):c.753C>T:p.Ile251=	coding	Benign
10	122489603	G	A	G122489603A	HTRA1	NM_002775.5(HTRA1):c.754G>A:p.Ala252Thr	coding	Pathogenic
10	122489616	T	C	T122489616C	HTRA1	NM_002775.5(HTRA1):c.767T>C:p.Ile256Thr	coding	Pathogenic
10	122506734	G	A	G122506734A	HTRA1	NM_002775.5(HTRA1):c.821G>A:p.Arg274Gln	coding	Pathogenic
10	122506765	C	A	C122506765A	HTRA1	NM_002775.5(HTRA1):c.852C>A:p.Ser284Arg	coding	Pathogenic
10	122506778	C	T	C122506778T	HTRA1	NM_002775.5(HTRA1):c.865C>T:p.Gln289Ter	coding	Pathogenic
10	122506796	G	A	G122506796A	HTRA1	NM_002775.5(HTRA1):c.883G>A:p.Gly295Arg	coding	Pathogenic
10	122506802	G	A	G122506802A	HTRA1	NM_002775.5(HTRA1):c.889G>A:p.Val297Met	coding	Pathogenic
10	122507369	G	A	G122507369A	HTRA1	NM_002775.5(HTRA1):c.973-1G>A	noncoding	Pathogenic
10	122508741	T	C	T122508741C	HTRA1	NM_002775.5(HTRA1):c.1091T>C:p.Leu364Pro	coding	Pathogenic
10	122512012	C	T	C122512012T	HTRA1	NM_002775.5(HTRA1):c.1221C>T:p.Asp407=	coding	Benign/Likely_benign
10	122512073	G	A	G122512073A	HTRA1	NM_002775.5(HTRA1):c.1274+8G>A	noncoding	Benign
10	122512079	G	A	G122512079A	HTRA1	NM_002775.5(HTRA1):c.1274+14G>A	noncoding	Benign
10	122589063	G	A	G122589063A	DMBT1	NM_007329.2(DMBT1):c.1903G>A:p.Asp635Asn	coding	Benign
10	122589162	G	A	G122589162A	DMBT1	NM_007329.2(DMBT1):c.2002G>A:p.Asp668Asn	coding	Benign
10	122589168	C	T	C122589168T	DMBT1	NM_007329.2(DMBT1):c.2008C>T:p.Arg670Cys	coding	Benign
10	122592363	C	T	C122592363T	DMBT1	NM_007329.2(DMBT1):c.2268C>T:p.Thr756=	coding	Benign
10	122618092	A	G	A122618092G	DMBT1	NM_007329.2(DMBT1):c.4580A>G:p.Gln1527Arg	coding	Benign
10	122631872	C	T	C122631872T	DMBT1	NM_007329.2(DMBT1):c.5977C>T:p.Pro1993Ser	coding	Benign
10	123034358	A	C	A123034358C	ACADSB	NM_001609.4(ACADSB):c.45A>C:p.Leu15=	coding	Benign
10	123034405	A	G	A123034405G	ACADSB	NM_001609.3(ACADSB):c.92A>G:p.His31Arg	coding	Benign
10	123034481	A	G	A123034481G	ACADSB	NM_001609.3(ACADSB):c.168A>G:p.Thr56=	coding	Benign
10	123037839	C	T	C123037839T	ACADSB	NM_001609.4(ACADSB):c.295C>T:p.Gln99Ter	coding	Pathogenic
10	123037850	A	G	A123037850G	ACADSB	NM_001609.3(ACADSB):c.303+3A>G	noncoding	Pathogenic
10	123041337	C	T	C123041337T	ACADSB	NM_001609.3(ACADSB):c.639C>T:p.His213=	coding	Benign
10	123043090	G	A	G123043090A	ACADSB	NM_001609.4(ACADSB):c.726G>A:p.Pro242=	coding	Benign
10	123043127	C	T	C123043127T	ACADSB	NM_001609.3(ACADSB):c.763C>T:p.Leu255Phe	coding	Pathogenic
10	123043150	G	A	G123043150A	ACADSB	NM_001609.3(ACADSB):c.786G>A:p.Pro262=	coding	Benign
10	123047254	A	G	A123047254G	ACADSB	NM_001609.3(ACADSB):c.946A>G:p.Ile316Val	coding	Benign
10	123051072	C	T	C123051072T	ACADSB	NM_001609.3(ACADSB):c.1014C>T:p.His338=	coding	Benign
10	123053097	A	G	A123053097G	ACADSB	NM_001609.3(ACADSB):c.1165A>G:p.Met389Val	coding	Pathogenic
10	123053160	G	A	G123053160A	ACADSB	NM_001609.3(ACADSB):c.1228G>A:p.Gly410Ser	coding	Pathogenic
10	123053874	G	A	G123053874A	ACADSB	NM_001609.3(ACADSB):c.*109G>A	noncoding	Benign
10	123053898	C	G	C123053898G	ACADSB	NM_001609.4(ACADSB):c.*133C>G	noncoding	Benign
10	123053971	A	C	A123053971C	ACADSB	NM_001609.3(ACADSB):c.*206A>C	noncoding	Benign
10	123054027	C	T	C123054027T	ACADSB	NM_001609.3(ACADSB):c.*262C>T	noncoding	Benign
10	123054262	C	T	C123054262T	ACADSB	NM_001609.3(ACADSB):c.*497C>T	noncoding	Benign
10	123054965	A	T	A123054965T	ACADSB	NM_001609.3(ACADSB):c.*1200A>T	noncoding	Benign
10	123054967	G	A	G123054967A	ACADSB	NM_001609.3(ACADSB):c.*1202G>A	noncoding	Benign
10	123056722	T	A	T123056722A	ACADSB	NM_001609.3(ACADSB):c.*2957T>A	noncoding	Benign
10	123056999	C	G	C123056999G	ACADSB	NM_001609.3(ACADSB):c.*3234C>G	noncoding	Benign
10	123057064	C	G	C123057064G	ACADSB	NM_001609.3(ACADSB):c.*3299C>G	noncoding	Benign
10	123057501	G	T	G123057501T	ACADSB	NM_001609.4(ACADSB):c.*3736G>T	noncoding	Benign
10	123057584	A	G	A123057584G	ACADSB	NM_001609.3(ACADSB):c.*3819A>G	noncoding	Benign
10	123057900	G	A	G123057900A	ACADSB	NM_001609.3(ACADSB):c.*4135G>A	noncoding	Benign
10	123058191	T	C	T123058191C	ACADSB	NM_001609.3(ACADSB):c.*4426T>C	noncoding	Benign
10	123058232	A	T	A123058232T	ACADSB	NM_001609.3(ACADSB):c.*4467A>T	noncoding	Benign
10	123149966	C	G	C123149966G	HMX2	NM_005519.1(HMX2):c.665C>G:p.Ala222Gly	coding	Benign
10	123163813	C	T	C123163813T	BUB3	NM_004725.4(BUB3):c.972-7C>T	noncoding	Benign
10	123666737	C	T	C123666737T	GPR26	NM_153442.4(GPR26):c.330C>T:p.Phe110=	coding	Benign
10	123667031	G	C	G123667031C	GPR26	NM_153442.4(GPR26):c.624G>C:p.Val208=	coding	Benign
10	123687995	G	A	G123687995A	GPR26	NM_153442.4(GPR26):c.849G>A:p.Ala283=	coding	Benign
10	123754772	A	G	A123754772G	CPXM2	NM_198148.3(CPXM2):c.1918-10T>C	noncoding	Benign
10	123761919	T	C	T123761919C	CPXM2	NM_198148.3(CPXM2):c.1730A>G:p.Lys577Arg	coding	Benign
10	123842486	C	T	C123842486T	CPXM2	NM_198148.3(CPXM2):c.516G>A:p.Ala172=	coding	Benign
10	124038592	C	T	C124038592T	CHST15	NM_001270764.2(CHST15):c.1113G>A:p.Pro371=	coding	Benign
10	124044794	G	A	G124044794A	CHST15	NM_001270764.2(CHST15):c.672C>T:p.Arg224=	coding	Benign
10	124046167	C	T	C124046167T	CHST15	NM_001270764.2(CHST15):c.46G>A:p.Ala16Thr	coding	Benign
10	124397407	A	G	A124397407G	OAT	NM_000274.3(OAT):c.*535T>C	noncoding	Benign
10	124397757	G	A	G124397757A	OAT	NM_000274.3(OAT):c.*185C>T	noncoding	Benign
10	124397951	C	G	C124397951G	OAT	NM_000274.3(OAT):c.1311G>C:p.Leu437Phe	coding	Benign
10	124397986	G	A	G124397986A	OAT	NM_000274.3(OAT):c.1276C>T:p.Arg426Ter	coding	Pathogenic
10	124398012	G	A	G124398012A	OAT	NM_000274.3(OAT):c.1250C>T:p.Pro417Leu	coding	Pathogenic
10	124398057	A	G	A124398057G	OAT	NM_000274.3(OAT):c.1205T>C:p.Leu402Pro	coding	Pathogenic
10	124398061	C	A	C124398061A	OAT	NM_000274.3(OAT):c.1201G>T:p.Gly401Ter	coding	Pathogenic
10	124398070	G	A	G124398070A	OAT	NM_000274.3(OAT):c.1192C>T:p.Arg398Ter	coding	Pathogenic
10	124398076	G	A	G124398076A	OAT	NM_000274.3(OAT):c.1186C>T:p.Arg396Ter	coding	Pathogenic/Likely_pathogenic
10	124398082	A	G	A124398082G	OAT	NM_000274.3(OAT):c.1180T>C:p.Cys394Arg	coding	Pathogenic
10	124398090	C	T	C124398090T	OAT	NM_000274.3(OAT):c.1172G>A:p.Trp391Ter	coding	Pathogenic/Likely_pathogenic
10	124398161	G	A	G124398161A	OAT	NM_000274.3(OAT):c.1160-59C>T	noncoding	Benign
10	124400865	G	A	G124400865A	OAT	NM_000274.3(OAT):c.1134C>T:p.Asn378=	coding	Benign
10	124400941	C	T	C124400941T	OAT	NM_000274.3(OAT):c.1058G>A:p.Gly353Asp	coding	Pathogenic
10	124401087	T	G	T124401087G	OAT	NM_000274.3(OAT):c.1015-103A>C	noncoding	Benign
10	124401134	G	A	G124401134A	OAT	NM_000274.3(OAT):c.1015-150C>T	noncoding	Benign
10	124401746	C	T	C124401746T	OAT	NM_000274.3(OAT):c.994G>A:p.Val332Met	coding	Pathogenic/Likely_pathogenic
10	124401749	G	A	G124401749A	OAT	NM_000274.3(OAT):c.991C>T:p.Arg331Ter	coding	Pathogenic
10	124401785	G	A	G124401785A	OAT	NM_000274.3(OAT):c.955C>T:p.His319Tyr	coding	Pathogenic
10	124401788	C	T	C124401788T	OAT	NM_000274.3(OAT):c.952G>A:p.Glu318Lys	coding	Pathogenic
10	124401861	A	G	A124401861G	OAT	NM_000274.3(OAT):c.901-22T>C	noncoding	Benign
10	124401896	T	A	T124401896A	OAT	NM_000274.3(OAT):c.901-57A>T	noncoding	Benign
10	124401993	T	C	T124401993C	OAT	NM_000274.3(OAT):c.901-154A>G	noncoding	Benign
10	124402926	C	T	C124402926T	OAT	NM_000274.4(OAT):c.900+1G>A	noncoding	Pathogenic
10	124402928	G	A	G124402928A	OAT	NM_000274.3(OAT):c.899C>T:p.Pro300Leu	coding	Pathogenic
10	124402930	G	C	G124402930C	OAT	NM_000274.3(OAT):c.897C>G:p.Tyr299Ter	coding	Pathogenic/Likely_pathogenic
10	124403003	C	T	C124403003T	OAT	NM_000274.3(OAT):c.824G>A:p.Trp275Ter	coding	Pathogenic
10	124403015	C	T	C124403015T	OAT	NM_000274.3(OAT):c.812G>A:p.Arg271Lys	coding	Pathogenic
10	124403019	C	G	C124403019G	OAT	NM_000274.3(OAT):c.808G>C:p.Ala270Pro	coding	Pathogenic
10	124403056	C	T	C124403056T	OAT	NM_000274.3(OAT):c.772-1G>A	coding	Pathogenic/Likely_pathogenic
10	124403369	C	G	C124403369G	OAT	NM_000274.3(OAT):c.772-314G>C	noncoding	Benign
10	124403820	C	G	C124403820G	OAT	NM_000274.3(OAT):c.749G>C:p.Arg250Pro	coding	Pathogenic
10	124403835	T	C	T124403835C	OAT	NM_000274.3(OAT):c.734A>G:p.Tyr245Cys	coding	Pathogenic
10	124403892	G	A	G124403892A	OAT	NM_000274.3(OAT):c.677C>T:p.Ala226Val	coding	Pathogenic
10	124405422	T	C	T124405422C	OAT	NM_000274.3(OAT):c.648+14A>G	noncoding	Benign
10	124405457	A	T	A124405457T	OAT	NM_000274.3(OAT):c.627T>A:p.Tyr209Ter	coding	Pathogenic
10	124405488	G	T	G124405488T	OAT	NM_001322974.2(OAT):c.-5C>A	coding	Pathogenic
10	124405534	C	T	C124405534T	OAT	NM_001322974.2(OAT):c.-51G>A	coding	Pathogenic
10	124405545	C	G	C124405545G	OAT	NM_001322974.2(OAT):c.-62G>C	coding	Pathogenic
10	124405550	C	T	C124405550T	OAT	NM_000274.4(OAT):c.534G>A:p.Trp178Ter	coding	Pathogenic
10	124405551	C	T	C124405551T	OAT	NM_001322974.2(OAT):c.-68G>A	coding	Pathogenic
10	124408601	C	A	C124408601A	OAT	NM_001322971.2(OAT):c.200-3038G>T	coding	Pathogenic
10	124408887	C	A	C124408887A	OAT	NM_001171814.1(OAT):c.-137G>T	coding	Pathogenic
10	124408897	G	C	G124408897C	OAT	NM_001171814.1(OAT):c.-147C>G	coding	Pathogenic
10	124408975	A	G	A124408975G	OAT	NM_000274.3(OAT):c.200-10T>C	noncoding	Benign
10	124412009	A	G	A124412009G	OAT	NM_001171814.1(OAT):c.-215-3044T>C	coding	Pathogenic
10	124412010	G	T	G124412010T	OAT	NM_001171814.1(OAT):c.-215-3045C>A	coding	Pathogenic
10	124412169	C	T	C124412169T	OAT	NM_001171814.1(OAT):c.-215-3204G>A	coding	Pathogenic
10	124412281	T	C	T124412281C	OAT	NM_000274.3(OAT):c.-29-81A>G	noncoding	Benign
10	124418881	G	A	G124418881A	OAT	NM_000274.3(OAT):c.-38C>T	noncoding	Benign
10	124418896	G	A	G124418896A	OAT	NM_000274.3(OAT):c.-53C>T	noncoding	Benign
10	124418902	C	G	C124418902G	OAT	NM_000274.4(OAT):c.-59G>C	noncoding	Benign
10	124418937	A	C	A124418937C	OAT	NM_000274.3(OAT):c.-94T>G	noncoding	Benign
10	124484332	C	A	C124484332A	LHPP	NM_022126.4(LHPP):c.313+6C>A	noncoding	Benign
10	124517198	G	A	G124517198A	LHPP	NM_022126.4(LHPP):c.643G>A:p.Asp215Asn	coding	Benign
10	124517260	C	T	C124517260T	LHPP	NM_022126.4(LHPP):c.705C>T:p.Thr235=	coding	Benign
10	124983198	G	T	G124983198T	ZRANB1	NM_017580.3(ZRANB1):c.1572G>T:p.Thr524=	coding	Benign
10	124993314	C	T	C124993314T	CTBP2	NM_022802.3(CTBP2):c.2547G>A:p.Pro849=	coding	Benign
10	125026522	T	G	T125026522G	CTBP2	NM_022802.3(CTBP2):c.1238A>C:p.His413Pro	coding	Benign
10	125026556	G	A	G125026556A	CTBP2	NM_022802.3(CTBP2):c.1204C>T:p.Pro402Ser	coding	Benign
10	125026729	C	T	C125026729T	CTBP2	NM_022802.3(CTBP2):c.1031G>A:p.Arg344His	coding	Benign
10	125027034	G	A	G125027034A	CTBP2	NM_022802.3(CTBP2):c.726C>T:p.Pro242=	coding	Benign
10	125027124	G	A	G125027124A	CTBP2	NM_022802.3(CTBP2):c.636C>T:p.Ser212=	coding	Benign
10	125027376	C	T	C125027376T	CTBP2	NM_022802.3(CTBP2):c.384G>A:p.Arg128=	coding	Benign
10	125723903	A	G	A125723903G	EDRF1	NM_001202438.2(EDRF1):c.477A>G:p.Leu159=	coding	Benign
10	125734126	T	C	T125734126C	EDRF1	NM_001202438.2(EDRF1):c.1440T>C:p.Thr480=	coding	Benign
10	125741023	C	T	C125741023T	EDRF1	NM_001202438.2(EDRF1):c.2193C>T:p.Thr731=	coding	Benign
10	125743131	T	A	T125743131A	EDRF1	NM_001202438.2(EDRF1):c.2445T>A:p.Ala815=	coding	Benign
10	125766689	G	A	G125766689A	MMP21	NM_147191.1(MMP21):c.1683C>T:p.Asp561=	coding	Benign
10	125767570	G	A	G125767570A	MMP21	NM_147191.1(MMP21):c.1372C>T:p.Arg458Ter	coding	Pathogenic/Likely_pathogenic
10	125767581	G	A	G125767581A	MMP21	NM_147191.1(MMP21):c.1361C>T:p.Ala454Val	coding	Benign
10	125770525	T	C	T125770525C	MMP21	NM_147191.1(MMP21):c.1046A>G:p.Glu349Gly	coding	Benign
10	125772716	C	G	C125772716G	MMP21	NM_147191.1(MMP21):c.732G>C:p.Gly244=	coding	Benign
10	125773821	G	C	G125773821C	MMP21	NM_147191.1(MMP21):c.697+10C>G	noncoding	Benign
10	125773885	C	T	C125773885T	MMP21	NM_147191.1(MMP21):c.643G>A:p.Glu215Lys	coding	Pathogenic
10	125773970	G	A	G125773970A	MMP21	NM_147191.1(MMP21):c.558C>T:p.Ser186=	coding	Benign
10	125775721	G	A	G125775721A	MMP21	NM_147191.1(MMP21):c.101C>T:p.Ser34Leu	coding	Benign
10	125788831	C	A	C125788831A	UROS	NM_000375.3(UROS):c.*37G>T	noncoding	Benign
10	125788923	G	T	G125788923T	UROS	NM_000375.3(UROS):c.743C>A:p.Pro248Gln	coding	Pathogenic
10	125788983	G	A	G125788983A	UROS	NM_000375.3(UROS):c.683C>T:p.Thr228Met	coding	Pathogenic
10	125788993	C	T	C125788993T	UROS	NM_000375.3(UROS):c.673G>A:p.Gly225Ser	coding	Pathogenic
10	125789003	A	G	A125789003G	UROS	NM_000375.3(UROS):c.663T>C:p.Phe221=	coding	Benign
10	125789036	A	C	A125789036C	UROS	NM_000375.3(UROS):c.661-31T>G	noncoding	Pathogenic
10	125794978	C	A	C125794978A	UROS	NM_000375.3(UROS):c.562G>T:p.Gly188Trp	coding	Pathogenic
10	125794978	C	T	C125794978T	UROS	NM_000375.3(UROS):c.562G>A:p.Gly188Arg	coding	Pathogenic
10	125796152	A	C	A125796152C	UROS	NM_000375.3(UROS):c.512T>G:p.Val171Gly	coding	Benign
10	125807469	T	A	T125807469A	UROS	NM_000375.3(UROS):c.338A>T:p.Asp113Val	coding	Benign
10	125812222	G	A	G125812222A	UROS	NM_000375.3(UROS):c.311C>T:p.Ala104Val	coding	Pathogenic
10	125815035	T	A	T125815035A	UROS	NM_000375.3(UROS):c.243A>T:p.Glu81Asp	coding	Pathogenic
10	125815061	A	G	A125815061G	UROS	NM_000375.3(UROS):c.217T>C:p.Cys73Arg	coding	Pathogenic
10	125815081	G	A	G125815081A	UROS	NM_000375.3(UROS):c.197C>T:p.Ala66Val	coding	Pathogenic
10	125815094	T	C	T125815094C	UROS	NM_000375.3(UROS):c.184A>G:p.Thr62Ala	coding	Pathogenic
10	125815120	G	A	G125815120A	UROS	NM_000375.3(UROS):c.158C>T:p.Pro53Leu	coding	Pathogenic
10	125816185	A	G	A125816185G	UROS	NM_000375.3(UROS):c.139T>C:p.Ser47Pro	coding	Pathogenic
10	125816436	C	T	C125816436T	UROS	NM_000375.3(UROS):c.63+1G>A	noncoding	Pathogenic
10	125816444	T	C	T125816444C	UROS	NM_000375.3(UROS):c.56A>G:p.Tyr19Cys	coding	Pathogenic
10	125816490	G	A	G125816490A	UROS	NM_000375.3(UROS):c.10C>T:p.Leu4Phe	coding	Pathogenic
10	125816708	C	T	C125816708T	UROS	NM_000375.3(UROS):c.-26-183G>A	noncoding	Pathogenic
10	125816718	G	T	G125816718T	UROS	NM_000375.3(UROS):c.-26-193C>A	noncoding	Pathogenic
10	125816722	G	T	G125816722T	UROS	NM_000375.3(UROS):c.-26-197C>A	noncoding	Pathogenic
10	125823138	G	A	G125823138A	UROS	NM_000375.3(UROS):c.-136C>T	noncoding	Benign
10	125823187	C	T	C125823187T	UROS	NM_000375.3(UROS):c.-185G>A	noncoding	Benign
10	125823205	A	G	A125823205G	UROS	NM_000375.3(UROS):c.-203T>C	noncoding	Pathogenic
10	125823221	G	T	G125823221T	UROS	NM_000375.3(UROS):c.-219C>A	noncoding	Benign
10	125836825	G	A	G125836825A	DHX32	NM_018180.3(DHX32):c.2094C>T:p.Phe698=	coding	Benign
10	125840955	C	G	C125840955G	DHX32	NM_018180.3(DHX32):c.1585G>C:p.Ala529Pro	coding	Benign
10	125854151	T	G	T125854151G	DHX32	NM_018180.3(DHX32):c.902A>C:p.Asp301Ala	coding	Benign
10	125859777	G	T	G125859777T	DHX32	NM_018180.3(DHX32):c.675C>A:p.Leu225=	coding	Benign
10	125859912	C	T	C125859912T	DHX32	NM_018180.3(DHX32):c.540G>A:p.Gly180=	coding	Benign
10	125980324	T	C	T125980324C	FANK1	NM_145235.5(FANK1):c.177T>C:p.Tyr59=	coding	Benign
10	126004905	G	A	G126004905A	FANK1	NM_145235.5(FANK1):c.561G>A:p.Ala187=	coding	Benign
10	126009428	G	T	G126009428T	FANK1	NM_145235.5(FANK1):c.1028G>T:p.Cys343Phe	coding	Benign
10	126038277	G	A	G126038277A	ADAM12	NM_001288973.2(ADAM12):c.2313C>T:p.Gly771=	coding	Benign
10	126038280	T	C	T126038280C	ADAM12	NM_001288973.2(ADAM12):c.2310A>G:p.Lys770=	coding	Benign
10	126039436	C	G	C126039436G	ADAM12	NM_001288973.2(ADAM12):c.2105-7G>C	noncoding	Benign
10	126046075	T	C	T126046075C	ADAM12	NM_001288973.2(ADAM12):c.1975A>G:p.Met659Val	coding	Benign
10	126118141	T	C	T126118141C	ADAM12	NM_001288973.2(ADAM12):c.500A>G:p.Lys167Arg	coding	Benign
10	126135643	A	G	A126135643G	ADAM12	NM_001288973.2(ADAM12):c.357T>C:p.His119=	coding	Benign
10	126425986	A	G	A126425986G	C10orf90	NM_001004298.3(C10orf90):c.2061+5T>C	noncoding	Benign
10	126459169	G	A	G126459169A	C10orf90	NM_001004298.3(C10orf90):c.1768C>T:p.Arg590Trp	coding	Benign
10	126459180	C	T	C126459180T	C10orf90	NM_001004298.3(C10orf90):c.1757G>A:p.Arg586His	coding	Benign
10	126461491	C	A	C126461491A	C10orf90	NM_001004298.3(C10orf90):c.1629G>T:p.Ser543=	coding	Benign
10	126464816	G	A	G126464816A	C10orf90	NM_001004298.3(C10orf90):c.1414C>T:p.Arg472Ter	coding	Benign
10	126464859	G	A	G126464859A	C10orf90	NM_001004298.3(C10orf90):c.1371C>T:p.Ser457=	coding	Benign
10	126504015	G	A	G126504015A	C10orf90	NM_001004298.3(C10orf90):c.1185C>T:p.His395=	coding	Benign
10	126504024	A	T	A126504024T	C10orf90	NM_001004298.3(C10orf90):c.1176T>A:p.Thr392=	coding	Benign
10	126504743	C	T	C126504743T	C10orf90	NM_001004298.3(C10orf90):c.457G>A:p.Ala153Thr	coding	Benign
10	126505010	T	G	T126505010G	C10orf90	NM_001004298.3(C10orf90):c.190A>C:p.Arg64=	coding	Benign
10	127552625	A	G	A127552625G	NPS	NM_001030013.2(NPS):c.256A>G:p.Arg86Gly	coding	Benign
10	127737372	C	A	C127737372A	FOXI2	NM_207426.3(FOXI2):c.99C>A:p.Gly33=	coding	Benign
10	128101259	T	C	T128101259C	MKI67	NM_002417.5(MKI67):c.9704A>G:p.Lys3235Arg	coding	Benign
10	128103064	G	T	G128103064T	MKI67	NM_002417.5(MKI67):c.8776C>A:p.Gln2926Lys	coding	Benign
10	128103338	G	A	G128103338A	MKI67	NM_002417.5(MKI67):c.8502C>T:p.Thr2834=	coding	Benign
10	128103498	G	A	G128103498A	MKI67	NM_002417.5(MKI67):c.8342C>T:p.Thr2781Ile	coding	Benign
10	128103821	G	A	G128103821A	MKI67	NM_002417.5(MKI67):c.8019C>T:p.Ala2673=	coding	Benign
10	128104268	C	T	C128104268T	MKI67	NM_002417.5(MKI67):c.7572G>A:p.Ala2524=	coding	Benign
10	128104889	A	G	A128104889G	MKI67	NM_002417.5(MKI67):c.6951T>C:p.Ala2317=	coding	Benign
10	128104901	T	C	T128104901C	MKI67	NM_002417.5(MKI67):c.6939A>G:p.Leu2313=	coding	Benign
10	128105627	T	C	T128105627C	MKI67	NM_002417.5(MKI67):c.6213A>G:p.Gln2071=	coding	Benign
10	128105651	T	C	T128105651C	MKI67	NM_002417.5(MKI67):c.6189A>G:p.Pro2063=	coding	Benign
10	128105989	G	T	G128105989T	MKI67	NM_002417.5(MKI67):c.5851C>A:p.Leu1951Ile	coding	Benign
10	128106252	T	A	T128106252A	MKI67	NM_002417.5(MKI67):c.5588A>T:p.Gln1863Leu	coding	Benign
10	128106390	C	G	C128106390G	MKI67	NM_002417.5(MKI67):c.5450G>C:p.Arg1817Thr	coding	Benign
10	128106424	G	C	G128106424C	MKI67	NM_002417.5(MKI67):c.5416C>G:p.Leu1806Val	coding	Benign
10	128106974	T	A	T128106974A	MKI67	NM_002417.5(MKI67):c.4866A>T:p.Pro1622=	coding	Benign
10	128107259	G	A	G128107259A	MKI67	NM_002417.5(MKI67):c.4581C>T:p.Leu1527=	coding	Benign
10	128107362	G	T	G128107362T	MKI67	NM_002417.5(MKI67):c.4478C>A:p.Ala1493Asp	coding	Benign
10	128107490	A	T	A128107490T	MKI67	NM_002417.5(MKI67):c.4350T>A:p.Gly1450=	coding	Benign
10	128107937	T	C	T128107937C	MKI67	NM_002417.5(MKI67):c.3903A>G:p.Pro1301=	coding	Benign
10	128108903	C	T	C128108903T	MKI67	NM_002417.5(MKI67):c.2937G>A:p.Thr979=	coding	Benign
10	128111988	A	C	A128111988C	MKI67	NM_002417.5(MKI67):c.2027T>G:p.Val676Gly	coding	Benign
10	128115368	G	T	G128115368T	MKI67	NM_002417.5(MKI67):c.1040C>A:p.Thr347Asn	coding	Benign
10	128116523	C	T	C128116523T	MKI67	NM_002417.5(MKI67):c.368G>A:p.Arg123His	coding	Benign
10	129840267	G	A	G129840267A	EBF3	NM_001375380.1(EBF3):c.1737C>T:p.Ser579=	coding	Benign
10	129840309	G	A	G129840309A	EBF3	NM_001375380.1(EBF3):c.1695C>T:p.Pro565=	coding	Benign
10	129848391	C	A	C129848391A	EBF3	NM_001005463.3(EBF3):c.1101+1G>T	noncoding	Pathogenic
10	129848391	C	G	C129848391G	EBF3	NM_001375380.1(EBF3):c.1128+1G>C	noncoding	Pathogenic
10	129848439	G	A	G129848439A	EBF3	NM_001375380.1(EBF3):c.1081C>T:p.Gln361Ter	coding	Pathogenic
10	129867246	G	A	G129867246A	EBF3	NM_001005463.3(EBF3):c.907C>T:p.Arg303Ter	coding	Pathogenic
10	129877767	C	T	C129877767T	EBF3	NM_001375380.1(EBF3):c.636+1G>A	noncoding	Pathogenic
10	129877770	G	A	G129877770A	EBF3	NM_001375380.1(EBF3):c.634C>T:p.Gln212Ter	coding	Pathogenic
10	129877778	C	T	C129877778T	EBF3	NM_001005463.3(EBF3):c.626G>A:p.Arg209Gln	coding	Pathogenic/Likely_pathogenic
10	129877788	G	A	G129877788A	EBF3	NM_001005463.3(EBF3):c.616C>T:p.Arg206Ter	coding	Pathogenic
10	129877811	C	T	C129877811T	EBF3	NM_001005463.3(EBF3):c.593G>A:p.Cys198Tyr	coding	Pathogenic
10	129877825	C	A	C129877825A	EBF3	NM_001005463.3(EBF3):c.579G>T:p.Lys193Asn	coding	Pathogenic
10	129957282	G	A	G129957282A	EBF3	NM_001005463.3(EBF3):c.530C>T:p.Pro177Leu	coding	Pathogenic
10	129957300	C	T	C129957300T	EBF3	NM_001005463.3(EBF3):c.512G>A:p.Gly171Asp	coding	Pathogenic
10	129957324	C	A	C129957324A	EBF3	NM_001005463.3(EBF3):c.488G>T:p.Arg163Leu	coding	Pathogenic
10	129957324	C	G	C129957324G	EBF3	NM_001005463.3(EBF3):c.488G>C:p.Arg163Pro	coding	Pathogenic
10	129957324	C	T	C129957324T	EBF3	NM_001005463.3(EBF3):c.488G>A:p.Arg163Gln	coding	Pathogenic
10	129957327	C	T	C129957327T	EBF3	NM_001005463.3(EBF3):c.486-1G>A	coding	Pathogenic
10	129958938	A	T	A129958938T	EBF3	NM_001375380.1(EBF3):c.481T>A:p.Cys161Ser	coding	Pathogenic
10	129958950	G	A	G129958950A	EBF3	NM_001005463.3(EBF3):c.469C>T:p.His157Tyr	coding	Pathogenic
10	129958987	C	T	C129958987T	EBF3	NM_001375380.1(EBF3):c.432G>A:p.Gln144=	coding	Benign
10	129958997	T	C	T129958997C	EBF3	NM_001005463.3(EBF3):c.422A>G:p.Tyr141Cys	coding	Pathogenic/Likely_pathogenic
10	129962212	G	A	G129962212A	EBF3	NM_001005463.3(EBF3):c.370C>T:p.Gln124Ter	coding	Pathogenic
10	129962956	A	C	A129962956C	EBF3	NM_001005463.3(EBF3):c.341T>G:p.Leu114Ter	coding	Pathogenic
10	129963495	C	A	C129963495A	EBF3	NM_001005463.3(EBF3):c.163G>T:p.Glu55Ter	coding	Pathogenic
10	129963672	T	C	T129963672C	EBF3	NM_001375380.1(EBF3):c.97A>G:p.Thr33Ala	coding	Benign
10	129963683	G	T	G129963683T	EBF3	NM_001005463.3(EBF3):c.86C>A:p.Ser29Ter	coding	Pathogenic
10	129963727	G	T	G129963727T	EBF3	NM_001375380.1(EBF3):c.42C>A:p.Thr14=	coding	Benign
10	130166520	G	A	G130166520A	GLRX3	NM_006541.5(GLRX3):c.492G>A:p.Gln164=	coding	Benign
10	131260386	G	A	G131260386A	TCERG1L	NM_174937.4(TCERG1L):c.729C>T:p.Ala243=	coding	Benign
10	132208016	G	A	G132208016A	STK32C	NM_173575.4(STK32C):c.1455C>T:p.Ser485=	coding	Benign
10	132208071	T	C	T132208071C	STK32C	NM_173575.4(STK32C):c.1400A>G:p.Glu467Gly	coding	Benign
10	132208130	G	C	G132208130C	STK32C	NM_173575.4(STK32C):c.1341C>G:p.Leu447=	coding	Benign
10	132226815	G	A	G132226815A	STK32C	NM_173575.4(STK32C):c.624C>T:p.Arg208=	coding	Benign
10	132226920	T	G	T132226920G	STK32C	NM_173575.4(STK32C):c.519A>C:p.Leu173=	coding	Benign
10	132726884	G	A	G132726884A	INPP5A	NM_005539.5(INPP5A):c.711G>A:p.Leu237=	coding	Benign
10	132749597	G	A	G132749597A	INPP5A	NM_005539.5(INPP5A):c.813G>A:p.Ser271=	coding	Benign
10	132785151	C	T	C132785151T	NKX6-2	NM_177400.3(NKX6-2):c.599G>A:p.Arg200Gln	coding	Pathogenic
10	132785161	G	A	G132785161A	NKX6-2	NM_177400.3(NKX6-2):c.589C>T:p.Gln197Ter	coding	Pathogenic
10	132785294	C	A	C132785294A	NKX6-2	NM_177400.3(NKX6-2):c.565G>T:p.Glu189Ter	coding	Pathogenic
10	132785372	G	C	G132785372C	NKX6-2	NM_177400.3(NKX6-2):c.487C>G:p.Leu163Val	coding	Pathogenic
10	132785828	T	A	T132785828A	NKX6-2	NM_177400.3(NKX6-2):c.121A>T:p.Lys41Ter	coding	Pathogenic
10	133098722	G	A	G133098722A	ADGRA1	NM_001083909.3(ADGRA1):c.214G>A:p.Gly72Ser	coding	Benign
10	133186234	G	A	G133186234A	KNDC1	NM_152643.8(KNDC1):c.886G>A:p.Ala296Thr	coding	Benign
10	133186365	G	A	G133186365A	KNDC1	NM_152643.8(KNDC1):c.1017G>A:p.Pro339=	coding	Benign
10	133198698	C	T	C133198698T	KNDC1	NM_152643.8(KNDC1):c.2190C>T:p.Asp730=	coding	Benign
10	133201623	A	T	A133201623T	KNDC1	NM_152643.8(KNDC1):c.3112A>T:p.Arg1038Trp	coding	Benign
10	133263747	C	T	C133263747T	ADAM8	NM_001109.5(ADAM8):c.2338G>A:p.Ala780Thr	coding	Benign
10	133270977	C	T	C133270977T	ADAM8	NM_001109.5(ADAM8):c.1468G>A:p.Ala490Thr	coding	Benign
10	133271277	G	A	G133271277A	ADAM8	NM_001109.5(ADAM8):c.1297C>T:p.Arg433Cys	coding	Benign
10	133273791	G	A	G133273791A	ADAM8	NM_001109.5(ADAM8):c.354C>T:p.Ala118=	coding	Benign
10	133275527	C	T	C133275527T	ADAM8	NM_001109.5(ADAM8):c.107G>A:p.Arg36His	coding	Benign
10	133284004	T	C	T133284004C	TUBGCP2	NM_006659.3(TUBGCP2):c.2025-2A>G	noncoding	Pathogenic
10	133292633	G	A	G133292633A	TUBGCP2	NM_001256617.1(TUBGCP2):c.1164C>T:p.His388=	coding	Benign
10	133298091	C	T	C133298091T	TUBGCP2	NM_001256617.1(TUBGCP2):c.477G>A:p.Lys159=	coding	Benign
10	133362924	T	C	T133362924C	ECHS1	NM_004092.4(ECHS1):c.817A>G:p.Lys273Glu	coding	Pathogenic/Likely_pathogenic
10	133364955	C	G	C133364955G	ECHS1	NM_004092.4(ECHS1):c.740-230G>C	noncoding	Benign
10	133365712	T	G	T133365712G	ECHS1	NM_004092.4(ECHS1):c.739+264A>C	noncoding	Benign
10	133366002	G	A	G133366002A	ECHS1	NM_004092.4(ECHS1):c.713C>T:p.Ala238Val	coding	Pathogenic
10	133366273	C	T	C133366273T	ECHS1	NM_004092.4(ECHS1):c.620-178G>A	noncoding	Benign
10	133366713	A	G	A133366713G	ECHS1	NM_004092.4(ECHS1):c.619+176T>C	noncoding	Benign
10	133366753	T	C	T133366753C	ECHS1	NM_004092.4(ECHS1):c.619+136A>G	noncoding	Benign
10	133366925	C	T	C133366925T	ECHS1	NM_004092.4(ECHS1):c.583G>A:p.Gly195Ser	coding	Pathogenic
10	133366926	A	G	A133366926G	ECHS1	NM_004092.4(ECHS1):c.582T>C:p.Thr194=	coding	Benign
10	133366970	T	C	T133366970C	ECHS1	NM_004092.4(ECHS1):c.538A>G:p.Thr180Ala	coding	Pathogenic/Likely_pathogenic
10	133366990	G	A	G133366990A	ECHS1	NM_004092.4(ECHS1):c.518C>T:p.Ala173Val	coding	Pathogenic/Likely_pathogenic
10	133367058	T	C	T133367058C	ECHS1	NM_004092.4(ECHS1):c.515-65A>G	noncoding	Benign
10	133368776	C	T	C133368776T	ECHS1	NM_004092.4(ECHS1):c.514+147G>A	noncoding	Benign
10	133368948	C	T	C133368948T	ECHS1	NM_004092.4(ECHS1):c.489G>A:p.Pro163=	coding	Benign/Likely_benign
10	133368961	T	C	T133368961C	ECHS1	NM_004092.4(ECHS1):c.476A>G:p.Gln159Arg	coding	Pathogenic/Likely_pathogenic
10	133368964	G	T	G133368964T	ECHS1	NM_004092.4(ECHS1):c.473C>A:p.Ala158Asp	coding	Pathogenic
10	133368970	T	C	T133368970C	ECHS1	NM_004092.4(ECHS1):c.467A>G:p.Glu156Gly	coding	Pathogenic
10	133369233	A	G	A133369233G	ECHS1	NM_004092.4(ECHS1):c.415-211T>C	noncoding	Benign
10	133369590	C	A	C133369590A	ECHS1	NM_004092.4(ECHS1):c.414+314G>T	noncoding	Benign
10	133369901	C	G	C133369901G	ECHS1	NM_004092.4(ECHS1):c.414+3G>C	noncoding	Pathogenic
10	133369905	G	A	G133369905A	ECHS1	NM_004092.4(ECHS1):c.413C>T:p.Ala138Val	coding	Pathogenic
10	133369924	C	T	C133369924T	ECHS1	NM_004092.4(ECHS1):c.394G>A:p.Ala132Thr	coding	Pathogenic
10	133370205	G	T	G133370205T	ECHS1	NM_004092.4(ECHS1):c.287-174C>A	noncoding	Benign
10	133370298	T	C	T133370298C	ECHS1	NM_004092.4(ECHS1):c.286+262A>G	noncoding	Benign
10	133370552	G	A	G133370552A	ECHS1	NM_004092.4(ECHS1):c.286+8C>T	noncoding	Benign
10	133370606	C	T	C133370606T	ECHS1	NM_004092.4(ECHS1):c.240G>A:p.Pro80=	coding	Benign/Likely_benign
10	133370617	C	G	C133370617G	ECHS1	NM_004092.4(ECHS1):c.229G>C:p.Glu77Gln	coding	Pathogenic
10	133370618	G	A	G133370618A	ECHS1	NM_004092.4(ECHS1):c.228C>T:p.Phe76=	coding	Benign
10	133370622	G	A	G133370622A	ECHS1	NM_004092.4(ECHS1):c.224C>T:p.Thr75Ile	coding	Benign
10	133370670	T	C	T133370670C	ECHS1	NM_004092.4(ECHS1):c.176A>G:p.Asn59Ser	coding	Pathogenic
10	133370685	C	T	C133370685T	ECHS1	NM_004092.4(ECHS1):c.161G>A:p.Arg54His	coding	Pathogenic
10	133370917	C	G	C133370917G	ECHS1	NM_004092.4(ECHS1):c.89-160G>C	noncoding	Benign
10	133373260	C	G	C133373260G	ECHS1	NM_004092.4(ECHS1):c.74G>C:p.Arg25Pro	coding	Pathogenic
10	133373324	G	A	G133373324A	ECHS1	NM_004092.4(ECHS1):c.10C>T:p.Leu4=	coding	Benign/Likely_benign
10	133373329	G	A	G133373329A	ECHS1	NM_004092.4(ECHS1):c.5C>T:p.Ala2Val	coding	Pathogenic
10	133373332	A	C	A133373332C	ECHS1	NM_004092.4(ECHS1):c.2T>G:p.Met1Arg	coding	Pathogenic/Likely_pathogenic
10	133402163	C	T	C133402163T	MTG1	NM_138384.4(MTG1):c.588C>T:p.Pro196=	coding	Benign
10	133528597	G	A	G133528597A	CYP2E1	NM_000773.4(CYP2E1):c.294G>A:p.Ser98=	coding	Benign
10	133532248	T	C	T133532248C	CYP2E1	NM_000773.4(CYP2E1):c.612T>C:p.Asn204=	coding	Benign
10	133533839	C	A	C133533839A	CYP2E1	NM_000773.4(CYP2E1):c.909C>A:p.Thr303=	coding	Benign
10	133537139	C	G	C133537139G	CYP2E1	NM_000773.4(CYP2E1):c.1044C>G:p.Pro348=	coding	Benign
10	133537858	C	T	C133537858T	CYP2E1	NM_000773.4(CYP2E1):c.1263C>T:p.Phe421=	coding	Benign
10	133538852	A	T	A133538852T	CYP2E1	NM_000773.4(CYP2E1):c.1370A>T:p.His457Leu	coding	Benign
10	133554319	G	C	G133554319C	SYCE1	NM_130784.3(SYCE1):c.820C>G:p.Pro274Ala	coding	Benign
10	133555402	G	C	G133555402C	SYCE1	NM_001143764.3(SYCE1):c.867C>G:p.Val289=	coding	Benign
10	133555706	G	A	G133555706A	SYCE1	NM_001143764.3(SYCE1):c.721C>T:p.Gln241Ter	coding	Pathogenic
10	133555790	C	A	C133555790A	SYCE1	NM_001143764.3(SYCE1):c.709G>T:p.Ala237Ser	coding	Benign
10	133555972	T	C	T133555972C	SYCE1	NM_001143764.3(SYCE1):c.595+9A>G	noncoding	Benign
10	133557912	A	C	A133557912C	SYCE1	NM_001143764.3(SYCE1):c.326T>G:p.Leu109Arg	coding	Benign
10	133558157	C	T	C133558157T	SYCE1	NM_001143764.3(SYCE1):c.319+10G>A	noncoding	Benign
10	133558953	T	C	T133558953C	SYCE1	NM_001143764.3(SYCE1):c.197-2A>G	noncoding	Pathogenic
10	133559335	C	T	C133559335T	SYCE1	NM_001143764.3(SYCE1):c.162G>A:p.Glu54=	coding	Benign
11	193112	C	T	C193112T	SCGB1C1	NM_145651.3(SCGB1C1):c.13C>T:p.Arg5Cys	coding	Benign
11	193722	A	G	A193722G	SCGB1C1	NM_145651.3(SCGB1C1):c.66A>G:p.Thr22=	coding	Benign
11	230474	G	T	G230474T	SIRT3	NM_012239.6(SIRT3):c.785C>A:p.Pro262His	coding	Benign
11	236094	A	G	A236094G	SIRT3	NM_012239.6(SIRT3):c.235T>C:p.Phe79Leu	coding	Benign
11	281289	C	A	C281289A	NLRP6	NM_001276700.2(NLRP6):c.1555C>A:p.Pro519Thr	coding	Benign
11	281692	G	C	G281692C	NLRP6	NM_001276700.2(NLRP6):c.1958G>C:p.Arg653Pro	coding	Benign
11	284377	G	A	G284377A	NLRP6	NM_001276700.2(NLRP6):c.2346G>A:p.Pro782=	coding	Benign
11	298516	G	A	G298516A	IFITM5	NM_001025295.3(IFITM5):c.384C>T:p.Asp128=	coding	Benign
11	298622	G	A	G298622A	IFITM5	NM_001025295.3(IFITM5):c.278C>T:p.Thr93Met	coding	Benign
11	299091	G	C	G299091C	IFITM5	NM_001025295.3(IFITM5):c.186+214C>G	noncoding	Benign
11	299219	C	A	C299219A	IFITM5	NM_001025295.3(IFITM5):c.186+86G>T	noncoding	Benign
11	299286	C	T	C299286T	IFITM5	NM_001025295.3(IFITM5):c.186+19G>A	noncoding	Benign
11	299371	C	A	C299371A	IFITM5	NM_001025295.3(IFITM5):c.120G>T:p.Ser40=	coding	Benign
11	299372	G	A	G299372A	IFITM5	NM_001025295.3(IFITM5):c.119C>T:p.Ser40Leu	coding	Pathogenic
11	299400	G	T	G299400T	IFITM5	NM_001025295.3(IFITM5):c.91C>A:p.Pro31Thr	coding	Benign
11	299404	C	T	C299404T	IFITM5	NM_001025295.3(IFITM5):c.87G>A:p.Pro29=	coding	Benign
11	299411	C	G	C299411G	IFITM5	NM_001025295.3(IFITM5):c.80G>C:p.Gly27Ala	coding	Benign
11	299504	G	A	G299504A	IFITM5	NM_001025295.3(IFITM5):c.-14C>T	noncoding	Pathogenic
11	299517	T	C	T299517C	IFITM5	NM_001025295.3(IFITM5):c.-27A>G	noncoding	Benign
11	299586	A	G	A299586G	IFITM5	NC_000011.10:g.299586A>G	noncoding	Benign
11	299719	T	A	T299719A	IFITM5	NC_000011.10:g.299719T>A	noncoding	Benign
11	299749	G	A	G299749A	IFITM5	NC_000011.10:g.299749G>A	noncoding	Benign
11	373061	C	T	C373061T	B4GALNT4	NM_178537.5(B4GALNT4):c.480C>T:p.Pro160=	coding	Benign
11	375780	G	A	G375780A	B4GALNT4	NM_178537.5(B4GALNT4):c.985+7G>A	noncoding	Benign
11	376343	A	G	A376343G	B4GALNT4	NM_178537.5(B4GALNT4):c.1289A>G:p.Asn430Ser	coding	Benign
11	396865	C	T	C396865T	PKP3	NM_007183.4(PKP3):c.364C>T:p.Arg122Cys	coding	Benign
11	397390	G	T	G397390T	PKP3	NM_007183.4(PKP3):c.889G>T:p.Val297Leu	coding	Benign
11	403749	C	T	C403749T	PKP3	NM_007183.4(PKP3):c.2055C>T:p.Asn685=	coding	Benign
11	408191	C	G	C408191G	SIGIRR	NM_001135054.2(SIGIRR):c.222G>C:p.Leu74=	coding	Benign
11	408745	G	A	G408745A	SIGIRR	NM_001135054.2(SIGIRR):c.156C>T:p.Asp52=	coding	Benign
11	432039	G	A	G432039A	ANO9	NM_001012302.3(ANO9):c.366C>T:p.Ile122=	coding	Benign
11	499195	A	G	A499195G	RNH1	NM_203387.3(RNH1):c.444-10T>C	noncoding	Benign
11	532611	G	A	G532611A	HRAS	NM_005343.4(HRAS):c.5+20C>T	noncoding	Benign
11	532617	G	T	G532617T	HRAS	NM_005343.4(HRAS):c.5+14C>A	noncoding	Benign
11	532635	G	A	G532635A	HRAS	NM_005343.4(HRAS):c.*1C>T	noncoding	Benign/Likely_benign
11	532686	G	A	G532686A	HRAS	NM_005343.4(HRAS):c.520C>T:p.Pro174Ser	coding	Benign
11	532729	C	T	C532729T	HRAS	NM_005343.4(HRAS):c.477G>A:p.Leu159=	coding	Benign
11	532923	A	C	A532923C	HRAS	NM_005343.4(HRAS):c.451-168T>G	noncoding	Benign
11	533037	G	A	G533037A	HRAS	NM_005343.4(HRAS):c.451-282C>T	noncoding	Benign
11	533467	C	T	C533467T	HRAS	NM_005343.4(HRAS):c.436G>A:p.Ala146Thr	coding	Pathogenic/Likely_pathogenic
11	533525	T	C	T533525C	HRAS	NM_005343.4(HRAS):c.378A>G:p.Glu126=	coding	Benign
11	533534	G	A	G533534A	HRAS	NM_005343.4(HRAS):c.369C>T:p.Arg123=	coding	Benign
11	533546	G	A	G533546A	HRAS	NM_005343.4(HRAS):c.357C>T:p.Asp119=	coding	Benign
11	533553	T	C	T533553C	HRAS	NM_005343.4(HRAS):c.350A>G:p.Lys117Arg	coding	Pathogenic
11	533573	G	A	G533573A	HRAS	NM_005343.4(HRAS):c.330C>T:p.Pro110=	coding	Benign/Likely_benign
11	533594	C	T	C533594T	HRAS	NM_005343.4(HRAS):c.309G>A:p.Val103=	coding	Benign
11	533618	A	C	A533618C	HRAS	NM_005343.4(HRAS):c.291-6T>G	noncoding	Benign
11	533799	T	G	T533799G	HRAS	NM_005343.4(HRAS):c.257A>C:p.Asn86Thr	coding	Benign
11	533834	G	A	G533834A	HRAS	NM_005343.4(HRAS):c.222C>T:p.Thr74=	coding	Benign
11	533869	C	T	C533869T	HRAS	NM_005343.4(HRAS):c.187G>A:p.Glu63Lys	coding	Pathogenic
11	533874	T	A	T533874A	HRAS	NM_005343.4(HRAS):c.182A>T:p.Gln61Leu	coding	Pathogenic/Likely_pathogenic
11	533875	G	T	G533875T	HRAS	NM_005343.4(HRAS):c.181C>A:p.Gln61Lys	coding	Pathogenic/Likely_pathogenic
11	533877	C	A	C533877A	HRAS	NM_005343.4(HRAS):c.179G>T:p.Gly60Val	coding	Pathogenic
11	533877	C	T	C533877T	HRAS	NM_005343.4(HRAS):c.179G>A:p.Gly60Asp	coding	Pathogenic
11	533879	G	A	G533879A	HRAS	NM_005343.4(HRAS):c.177C>T:p.Ala59=	coding	Benign/Likely_benign
11	533883	G	A	G533883A	HRAS	NM_005343.4(HRAS):c.173C>T:p.Thr58Ile	coding	Pathogenic
11	534197	C	T	C534197T	HRAS	NM_005343.4(HRAS):c.111+15G>A	noncoding	Benign
11	534242	A	G	A534242G	HRAS	NM_005343.4(HRAS):c.81T>C:p.His27=	coding	Benign
11	534269	C	T	C534269T	HRAS	NM_005343.4(HRAS):c.54G>A:p.Ala18=	coding	Benign/Likely_benign
11	534285	C	A	C534285A	HRAS	NM_005343.4(HRAS):c.38G>T:p.Gly13Val	coding	Pathogenic/Likely_pathogenic
11	534285	C	T	C534285T	HRAS	NM_005343.4(HRAS):c.38G>A:p.Gly13Asp	coding	Pathogenic
11	534286	C	A	C534286A	HRAS	NM_005343.4(HRAS):c.37G>T:p.Gly13Cys	coding	Pathogenic
11	534286	C	G	C534286G	HRAS	NM_005343.4(HRAS):c.37G>C:p.Gly13Arg	coding	Pathogenic/Likely_pathogenic
11	534288	C	A	C534288A	HRAS	NM_005343.4(HRAS):c.35G>T:p.Gly12Val	coding	Pathogenic
11	534288	C	G	C534288G	HRAS	NM_005343.4(HRAS):c.35G>C:p.Gly12Ala	coding	Pathogenic
11	534288	C	T	C534288T	HRAS	NM_005343.4(HRAS):c.35G>A:p.Gly12Asp	coding	Pathogenic
11	534289	C	A	C534289A	HRAS	NM_005343.4(HRAS):c.34G>T:p.Gly12Cys	coding	Pathogenic
11	534289	C	G	C534289G	HRAS;LRRC56	NM_005343.4(HRAS):c.34G>C:p.Gly12Arg	coding	Pathogenic/Likely_pathogenic
11	534289	C	T	C534289T	HRAS	NM_005343.4(HRAS):c.34G>A:p.Gly12Ser	coding	Pathogenic
11	534332	G	A	G534332A	HRAS	NM_005343.4(HRAS):c.-10C>T	noncoding	Benign
11	534392	T	C	T534392C	HRAS	NM_005343.4(HRAS):c.-53-17A>G	noncoding	Benign
11	544781	G	A	G544781A	LRRC56	NM_198075.4(LRRC56):c.326+1G>A	coding	Pathogenic
11	549994	T	C	T549994C	LRRC56	NM_198075.4(LRRC56):c.419T>C:p.Leu140Pro	coding	Pathogenic
11	549999	G	A	G549999A	LRRC56	NM_198075.4(LRRC56):c.423+1G>A	coding	Pathogenic
11	551266	G	T	G551266T	LRRC56	NM_198075.4(LRRC56):c.760G>T:p.Glu254Ter	coding	Pathogenic
11	563400	C	T	C563400T	RASSF7	NM_003475.4(RASSF7):c.956C>T:p.Pro319Leu	coding	Benign
11	608959	C	T	C608959T	PHRF1	NM_001286581.2(PHRF1):c.3503C>T:p.Ser1168Leu	coding	Benign
11	609081	G	C	G609081C	PHRF1	NM_001286581.2(PHRF1):c.3625G>C:p.Gly1209Arg	coding	Benign
11	609521	T	C	T609521C	PHRF1	NM_001286581.2(PHRF1):c.4065T>C:p.Ala1355=	coding	Benign
11	613094	G	A	G613094A	IRF7	NM_001572.5(IRF7):c.1261C>T:p.Gln421Ter	coding	Pathogenic
11	613215	A	C	A613215C	IRF7	NM_001572.5(IRF7):c.1228T>G:p.Phe410Val	coding	Pathogenic
11	614193	C	T	C614193T	IRF7	NM_001572.5(IRF7):c.660G>A:p.Leu220=	coding	Benign
11	614349	G	A	G614349A	IRF7	NM_001572.5(IRF7):c.504C>T:p.Ala168=	coding	Benign
11	614471	G	A	G614471A	IRF7	NM_001572.5(IRF7):c.453+5C>T	noncoding	Benign
11	614900	G	A	G614900A	IRF7	NM_001572.5(IRF7):c.291C>T:p.Cys97=	coding	Benign
11	615170	C	T	C615170T	IRF7	NM_001572.5(IRF7):c.110G>A:p.Arg37His	coding	Benign
11	615196	C	T	C615196T	IRF7	NM_001572.5(IRF7):c.84G>A:p.Glu28=	coding	Benign
11	620151	A	G	A620151G	CDHR5	NM_021924.5(CDHR5):c.894T>C:p.Gly298=	coding	Benign
11	621418	C	T	C621418T	CDHR5	NM_021924.5(CDHR5):c.545G>A:p.Arg182His	coding	Benign
11	637335	G	C	G637335C	DRD4	NM_000797.4(DRD4):c.31G>C:p.Gly11Arg	coding	Benign
11	637526	G	A	G637526A	DRD4	NM_000797.4(DRD4):c.222G>A:p.Val74=	coding	Benign
11	639830	T	G	T639830G	DRD4	NM_000797.4(DRD4):c.581T>G:p.Val194Gly	coding	Benign
11	640253	C	G	C640253G	DRD4	NM_000797.4(DRD4):c.1004C>G:p.Ala335Gly	coding	Benign
11	644568	C	G	C644568G	DEAF1	NM_021008.4(DEAF1):c.1680G>C:p.Met560Ile	coding	Benign
11	644614	G	C	G644614C	DEAF1	NM_021008.3(DEAF1):c.1634C>G:p.Ala545Gly	coding	Benign
11	653968	T	C	T653968C	DEAF1	NM_021008.3(DEAF1):c.1587A>G:p.Gln529=	coding	Benign
11	654007	G	A	G654007A	DEAF1	NM_021008.4(DEAF1):c.1548C>T:p.Thr516=	coding	Benign
11	654043	G	A	G654043A	DEAF1	NM_021008.3(DEAF1):c.1512C>T:p.Cys504=	coding	Benign
11	674551	G	A	G674551A	DEAF1	NM_021008.3(DEAF1):c.1488C>T:p.Asp496=	coding	Benign
11	674623	C	T	C674623T	DEAF1	NM_021008.4(DEAF1):c.1416G>A:p.Thr472=	coding	Benign
11	674638	C	T	C674638T	DEAF1	NM_021008.3(DEAF1):c.1401G>A:p.Ala467=	coding	Benign
11	679700	C	T	C679700T	DEAF1	NM_021008.4(DEAF1):c.1114G>A:p.Ala372Thr	coding	Benign
11	680959	T	G	T680959G	DEAF1	NM_021008.3(DEAF1):c.997+4A>C	noncoding	Pathogenic
11	681078	G	C	G681078C	DEAF1	NM_021008.3(DEAF1):c.882C>G:p.Val294=	coding	Benign
11	684942	C	G	C684942G	DEAF1	NM_021008.4(DEAF1):c.826G>C:p.Ala276Pro	coding	Pathogenic
11	684943	G	A	G684943A	DEAF1	NM_021008.4(DEAF1):c.825C>T:p.His275=	coding	Benign
11	686888	G	A	G686888A	DEAF1	NM_021008.3(DEAF1):c.774C>T:p.Tyr258=	coding	Benign
11	686900	T	G	T686900G	DEAF1	NM_001293634.1(DEAF1):c.664+1011A>C	coding	Pathogenic
11	686935	T	C	T686935C	DEAF1	NM_021008.3(DEAF1):c.727A>G:p.Met243Val	coding	Benign
11	686979	A	C	A686979C	DEAF1	NM_001293634.1(DEAF1):c.664+932T>G	coding	Pathogenic
11	686991	C	T	C686991T	DEAF1	NM_021008.4(DEAF1):c.671G>A:p.Arg224Gln	coding	Pathogenic
11	686992	G	A	G686992A	DEAF1	NM_001293634.1(DEAF1):c.664+919C>T	coding	Pathogenic
11	687910	C	A	C687910A	DEAF1	NM_021008.4(DEAF1):c.664+1G>T	noncoding	Pathogenic
11	687935	G	C	G687935C	DEAF1	NM_021008.4(DEAF1):c.640C>G:p.Leu214Val	coding	Pathogenic
11	687941	C	T	C687941T	DEAF1	NM_021008.3(DEAF1):c.634G>A:p.Gly212Ser	coding	Pathogenic/Likely_pathogenic
11	687999	G	T	G687999T	DEAF1	NM_021008.3(DEAF1):c.576C>A:p.Tyr192Ter	coding	Pathogenic
11	688004	T	A	T688004A	DEAF1	NM_021008.4(DEAF1):c.571A>T:p.Lys191Ter	coding	Pathogenic
11	688365	G	A	G688365A	DEAF1	NM_021008.4(DEAF1):c.483C>T:p.Thr161=	coding	Benign
11	694817	G	A	G694817A	DEAF1	NM_021008.3(DEAF1):c.231C>T:p.Asp77=	coding	Benign/Likely_benign
11	694886	C	G	C694886G	DEAF1	NM_021008.4(DEAF1):c.162G>C:p.Ser54=	coding	Benign/Likely_benign
11	709567	G	A	G709567A	EPS8L2	NM_022772.4(EPS8L2):c.59G>A:p.Arg20Gln	coding	Benign
11	723311	C	T	C723311T	EPS8L2	NM_022772.4(EPS8L2):c.1412C>T:p.Pro471Leu	coding	Benign
11	726615	C	A	C726615A	EPS8L2	NM_022772.4(EPS8L2):c.1935-4C>A	noncoding	Benign
11	763778	C	G	C763778G	TALDO1	NM_006755.2(TALDO1):c.669C>G:p.Tyr223Ter	coding	Pathogenic
11	763824	C	G	C763824G	TALDO1	NM_006755.2(TALDO1):c.715C>G:p.Arg239Gly	coding	Pathogenic
11	763910	C	T	C763910T	TALDO1	NM_006755.2(TALDO1):c.801C>T:p.Asn267=	coding	Benign
11	764383	G	T	G764383T	TALDO1	NM_006755.2(TALDO1):c.931G>T:p.Gly311Trp	coding	Pathogenic
11	764414	A	G	A764414G	TALDO1	NM_006755.2(TALDO1):c.962A>G:p.Lys321Arg	coding	Benign/Likely_benign
11	764854	T	C	T764854C	TALDO1	NM_006755.2(TALDO1):c.*9T>C	noncoding	Benign
11	790762	G	A	G790762A	SLC25A22	NM_001191061.2(SLC25A22):c.*1153C>T	noncoding	Benign
11	791009	C	T	C791009T	SLC25A22	NM_001191061.2(SLC25A22):c.*906G>A	noncoding	Benign
11	791074	T	A	T791074A	SLC25A22	NM_001191061.2(SLC25A22):c.*841A>T	noncoding	Benign
11	791203	A	G	A791203G	SLC25A22	NM_001191061.2(SLC25A22):c.*712T>C	noncoding	Benign
11	791462	G	A	G791462A	SLC25A22	NM_001191061.2(SLC25A22):c.*453C>T	noncoding	Benign
11	791479	G	A	G791479A	SLC25A22	NM_001191061.2(SLC25A22):c.*436C>T	noncoding	Benign
11	791898	T	G	T791898G	SLC25A22	NM_001191061.2(SLC25A22):c.*17A>C	noncoding	Benign
11	791954	C	T	C791954T	SLC25A22	NM_001191061.2(SLC25A22):c.933G>A:p.Ala311=	coding	Benign/Likely_benign
11	792142	C	T	C792142T	SLC25A22	NM_001191061.2(SLC25A22):c.818G>A:p.Arg273Lys	coding	Pathogenic
11	792285	C	T	C792285T	SLC25A22	NM_001191061.2(SLC25A22):c.742+19G>A	noncoding	Benign
11	792340	C	A	C792340A	SLC25A22	NM_001191061.2(SLC25A22):c.706G>T:p.Gly236Trp	coding	Pathogenic
11	792341	A	G	A792341G	SLC25A22	NM_001191061.2(SLC25A22):c.705T>C:p.Ala235=	coding	Benign/Likely_benign
11	792428	C	T	C792428T	SLC25A22	NM_001191061.2(SLC25A22):c.618G>A:p.Pro206=	coding	Benign
11	792579	G	A	G792579A	SLC25A22	NM_001191061.2(SLC25A22):c.561C>T:p.Tyr187=	coding	Benign
11	792692	G	C	G792692C	SLC25A22	NM_001191061.2(SLC25A22):c.448C>G:p.Leu150Val	coding	Benign
11	792722	G	A	G792722A	SLC25A22	NM_001191061.2(SLC25A22):c.418C>T:p.Gln140Ter	coding	Pathogenic
11	792860	C	A	C792860A	SLC25A22	NM_001191061.2(SLC25A22):c.412+10G>T	noncoding	Benign
11	792888	G	A	G792888A	SLC25A22	NM_001191061.2(SLC25A22):c.394C>T:p.Gln132Ter	coding	Pathogenic/Likely_pathogenic
11	792954	C	G	C792954G	SLC25A22	NM_001191061.2(SLC25A22):c.328G>C:p.Gly110Arg	coding	Pathogenic
11	793001	C	T	C793001T	SLC25A22	NM_001191061.2(SLC25A22):c.294-13G>A	noncoding	Benign
11	793002	G	A	G793002A	SLC25A22	NM_001191061.2(SLC25A22):c.294-14C>T	noncoding	Benign
11	793502	C	T	C793502T	SLC25A22	NM_001191061.2(SLC25A22):c.293+27G>A	noncoding	Benign
11	793551	G	A	G793551A	SLC25A22	NM_001191061.2(SLC25A22):c.271C>T:p.Arg91Ter	coding	Pathogenic
11	793588	G	A	G793588A	SLC25A22	NM_001191061.2(SLC25A22):c.234C>T:p.Pro78=	coding	Benign
11	794444	G	A	G794444A	SLC25A22	NM_001191061.2(SLC25A22):c.202+14C>T	noncoding	Benign
11	794491	C	T	C794491T	SLC25A22	NM_001191061.2(SLC25A22):c.169G>A:p.Val57Ile	coding	Benign/Likely_benign
11	795047	G	A	G795047A	SLC25A22	NM_001191061.2(SLC25A22):c.-41C>T	noncoding	Benign
11	795147	C	T	C795147T	SLC25A22	NM_001191061.2(SLC25A22):c.-141G>A	noncoding	Benign
11	796037	A	G	A796037G	SLC25A22	NM_001191061.2(SLC25A22):c.-163-868T>C	noncoding	Benign
11	796050	G	A	G796050A	SLC25A22	NM_001191061.2(SLC25A22):c.-163-881C>T	noncoding	Benign
11	799358	G	C	G799358C	PIDD1	NM_145886.4(PIDD1):c.2682C>G:p.Pro894=	coding	Benign
11	799453	G	A	G799453A	PIDD1	NM_145886.4(PIDD1):c.2587C>T:p.Gln863Ter	coding	Pathogenic
11	800556	G	A	G800556A	PIDD1	NM_145886.4(PIDD1):c.2028C>T:p.Ile676=	coding	Benign
11	801258	T	C	T801258C	PIDD1	NM_145886.4(PIDD1):c.1590A>G:p.Gln530=	coding	Benign
11	802270	G	A	G802270A	PIDD1	NM_145886.4(PIDD1):c.1101C>T:p.Leu367=	coding	Benign
11	804366	G	A	G804366A	PIDD1	NM_145886.4(PIDD1):c.23C>T:p.Pro8Leu	coding	Benign
11	819486	T	C	T819486C	PNPLA2	NM_020376.4(PNPLA2):c.-145-88T>C	noncoding	Benign
11	819920	G	A	G819920A	PNPLA2	NM_020376.4(PNPLA2):c.187+15G>A	noncoding	Benign
11	820127	T	G	T820127G	PNPLA2	NM_020376.4(PNPLA2):c.187+222T>G	noncoding	Benign
11	821686	C	A	C821686A	PNPLA2	NM_020376.4(PNPLA2):c.246C>A:p.Gly82=	coding	Benign
11	822494	C	T	C822494T	PNPLA2	NM_020376.4(PNPLA2):c.584C>T:p.Pro195Leu	coding	Pathogenic
11	822572	G	C	G822572C	PNPLA2	NM_020376.4(PNPLA2):c.662G>C:p.Arg221Pro	coding	Pathogenic
11	822588	C	T	C822588T	PNPLA2	NM_020376.4(PNPLA2):c.678C>T:p.Leu226=	coding	Benign
11	822621	G	A	G822621A	PNPLA2	NM_020376.4(PNPLA2):c.696+15G>A	noncoding	Benign/Likely_benign
11	822622	A	G	A822622G	PNPLA2	NM_020376.4(PNPLA2):c.696+16A>G	noncoding	Benign
11	823579	A	C	A823579C	PNPLA2	NM_020376.4(PNPLA2):c.749A>C:p.Gln250Pro	coding	Pathogenic
11	823586	C	G	C823586G	PNPLA2	NM_020376.4(PNPLA2):c.756C>G:p.Asn252Lys	coding	Benign/Likely_benign
11	823588	G	T	G823588T	PNPLA2	NM_020376.4(PNPLA2):c.757+1G>T	coding	Pathogenic
11	823589	T	C	T823589C	PNPLA2	NM_020376.4(PNPLA2):c.757+2T>C	noncoding	Pathogenic
11	823729	C	T	C823729T	PNPLA2	NM_020376.4(PNPLA2):c.793C>T:p.Pro265Ser	coding	Benign
11	823799	C	G	C823799G	PNPLA2	NM_020376.4(PNPLA2):c.863C>G:p.Ser288Trp	coding	Benign
11	823801	C	T	C823801T	PNPLA2	NM_020376.4(PNPLA2):c.865C>T:p.Gln289Ter	coding	Pathogenic
11	823809	C	G	C823809G	PNPLA2	NM_020376.4(PNPLA2):c.873C>G:p.Pro291=	coding	Benign
11	824410	G	A	G824410A	PNPLA2	NM_020376.4(PNPLA2):c.1149G>A:p.Arg383=	coding	Benign
11	824428	G	T	G824428T	PNPLA2	NM_020376.4(PNPLA2):c.1167G>T:p.Leu389=	coding	Benign
11	824496	C	G	C824496G	PNPLA2	NM_020376.4(PNPLA2):c.1176-27C>G	noncoding	Benign
11	824584	G	A	G824584A	PNPLA2	NM_020376.4(PNPLA2):c.1237G>A:p.Ala413Thr	coding	Benign
11	824777	C	G	C824777G	PNPLA2	NM_020376.4(PNPLA2):c.1430C>G:p.Pro477Arg	coding	Benign/Likely_benign
11	824789	T	C	T824789C	PNPLA2	NM_020376.4(PNPLA2):c.1442T>C:p.Leu481Pro	coding	Benign
11	824805	C	T	C824805T	PNPLA2	NM_020376.4(PNPLA2):c.1458C>T:p.Pro486=	coding	Benign
11	824813	G	T	G824813T	PNPLA2	NM_020376.4(PNPLA2):c.1466G>T:p.Ser489Ile	coding	Benign
11	825110	A	G	A825110G	PNPLA2	NM_020376.4(PNPLA2):c.*248A>G	noncoding	Benign
11	825458	C	G	C825458G	PNPLA2	NM_020376.4(PNPLA2):c.*596C>G	noncoding	Benign
11	836092	A	C	A836092C	CD151	NM_004357.5(CD151):c.23A>C:p.Lys8Thr	coding	Benign
11	836406	C	T	C836406T	CD151	NM_004357.5(CD151):c.240C>T:p.Cys80=	coding	Benign
11	1094922	C	T	C1094922T	MUC2	NM_002457.4(MUC2):c.4679C>T:p.Thr1560Ile	coding	Benign
11	1225711	A	G	A1225711G	MUC5B	NM_002458.3(MUC5B):c.101A>G:p.Glu34Gly	coding	Benign
11	1225746	C	T	C1225746T	MUC5B	NM_002458.3(MUC5B):c.127+9C>T	noncoding	Benign
11	1226228	C	T	C1226228T	MUC5B	NM_002458.3(MUC5B):c.151C>T:p.Arg51Trp	coding	Benign
11	1226739	C	T	C1226739T	MUC5B	NM_002458.3(MUC5B):c.324C>T:p.Arg108=	coding	Benign
11	1226857	G	A	G1226857A	MUC5B	NM_002458.3(MUC5B):c.442G>A:p.Val148Ile	coding	Benign
11	1227061	C	T	C1227061T	MUC5B	NM_002458.3(MUC5B):c.492C>T:p.Leu164=	coding	Benign
11	1227154	G	T	G1227154T	MUC5B	NM_002458.3(MUC5B):c.576+9G>T	noncoding	Benign
11	1227730	G	A	G1227730A	MUC5B	NM_002458.3(MUC5B):c.723G>A:p.Thr241=	coding	Benign
11	1227764	G	A	G1227764A	MUC5B	NM_002458.3(MUC5B):c.757G>A:p.Gly253Ser	coding	Benign
11	1228722	C	T	C1228722T	MUC5B	NM_002458.3(MUC5B):c.933C>T:p.His311=	coding	Benign
11	1229165	C	T	C1229165T	MUC5B	NM_002458.3(MUC5B):c.977-5C>T	noncoding	Benign
11	1229258	C	T	C1229258T	MUC5B	NM_002458.3(MUC5B):c.1065C>T:p.Cys355=	coding	Benign
11	1229679	G	C	G1229679C	MUC5B	NM_002458.3(MUC5B):c.1103-11G>C	noncoding	Benign
11	1230071	C	T	C1230071T	MUC5B	NM_002458.3(MUC5B):c.1287C>T:p.Gly429=	coding	Benign
11	1230570	G	A	G1230570A	MUC5B	NM_002458.3(MUC5B):c.1440G>A:p.Ala480=	coding	Benign
11	1230962	C	T	C1230962T	MUC5B	NM_002458.3(MUC5B):c.1497C>T:p.Gly499=	coding	Benign/Likely_benign
11	1231418	G	A	G1231418A	MUC5B	NM_002458.3(MUC5B):c.1541-5G>A	noncoding	Benign
11	1231478	G	C	G1231478C	MUC5B	NM_002458.3(MUC5B):c.1596G>C:p.Leu532=	coding	Benign
11	1232171	C	G	C1232171G	MUC5B	NM_002458.3(MUC5B):c.1843+11C>G	noncoding	Benign
11	1232712	T	C	T1232712C	MUC5B	NM_002458.3(MUC5B):c.2007T>C:p.Tyr669=	coding	Benign
11	1232739	A	G	A1232739G	MUC5B	NM_002458.3(MUC5B):c.2034A>G:p.Val678=	coding	Benign
11	1233218	C	T	C1233218T	MUC5B	NM_002458.3(MUC5B):c.2271C>T:p.His757=	coding	Benign
11	1233802	G	A	G1233802A	MUC5B	NM_002458.3(MUC5B):c.2331G>A:p.Thr777=	coding	Benign
11	1234256	C	A	C1234256A	MUC5B	NM_002458.3(MUC5B):c.2429C>A:p.Thr810Asn	coding	Benign/Likely_benign
11	1234543	C	T	C1234543T	MUC5B	NM_002458.3(MUC5B):c.2493C>T:p.Cys831=	coding	Benign
11	1235076	C	G	C1235076G	MUC5B	NM_002458.3(MUC5B):c.2631-9C>G	noncoding	Benign
11	1235227	C	T	C1235227T	MUC5B	NM_002458.3(MUC5B):c.2769+4C>T	noncoding	Benign
11	1235233	C	G	C1235233G	MUC5B	NM_002458.3(MUC5B):c.2769+10C>G	noncoding	Benign
11	1235319	A	C	A1235319C	MUC5B	NM_002458.3(MUC5B):c.2786A>C:p.Asn929Thr	coding	Benign
11	1237053	G	A	G1237053A	MUC5B	NM_002458.3(MUC5B):c.3186G>A:p.Pro1062=	coding	Benign
11	1237056	C	T	C1237056T	MUC5B	NM_002458.3(MUC5B):c.3189C>T:p.Asp1063=	coding	Benign
11	1240081	C	T	C1240081T	MUC5B	NM_002458.3(MUC5B):c.3765C>T:p.Ser1255=	coding	Benign
11	1240239	C	T	C1240239T	MUC5B	NM_002458.3(MUC5B):c.3834C>T:p.Thr1278=	coding	Benign
11	1240333	C	T	C1240333T	MUC5B	NM_002458.3(MUC5B):c.3928C>T:p.Pro1310Ser	coding	Benign
11	1240350	C	T	C1240350T	MUC5B	NM_002458.3(MUC5B):c.3945C>T:p.Thr1315=	coding	Benign
11	1241269	C	T	C1241269T	MUC5B	NM_002458.3(MUC5B):c.4389C>T:p.Thr1463=	coding	Benign
11	1241677	T	C	T1241677C	MUC5B	NM_002458.3(MUC5B):c.4797T>C:p.Ser1599=	coding	Benign
11	1242527	A	G	A1242527G	MUC5B	NM_002458.3(MUC5B):c.5647A>G:p.Ser1883Gly	coding	Benign
11	1242546	C	T	C1242546T	MUC5B	NM_002458.3(MUC5B):c.5666C>T:p.Pro1889Leu	coding	Benign
11	1242702	C	G	C1242702G	MUC5B	NM_002458.3(MUC5B):c.5822C>G:p.Thr1941Ser	coding	Benign
11	1243132	A	G	A1243132G	MUC5B	NM_002458.3(MUC5B):c.6252A>G:p.Thr2084=	coding	Benign
11	1243401	A	G	A1243401G	MUC5B	NM_002458.3(MUC5B):c.6521A>G:p.Asn2174Ser	coding	Benign
11	1243461	T	C	T1243461C	MUC5B	NM_002458.3(MUC5B):c.6581T>C:p.Met2194Thr	coding	Benign
11	1243480	A	G	A1243480G	MUC5B	NM_002458.3(MUC5B):c.6600A>G:p.Arg2200=	coding	Benign
11	1243512	G	C	G1243512C	MUC5B	NM_002458.3(MUC5B):c.6632G>C:p.Arg2211Pro	coding	Benign
11	1243593	T	C	T1243593C	MUC5B	NM_002458.3(MUC5B):c.6713T>C:p.Leu2238Pro	coding	Benign
11	1243660	A	G	A1243660G	MUC5B	NM_002458.3(MUC5B):c.6780A>G:p.Arg2260=	coding	Benign
11	1243735	G	A	G1243735A	MUC5B	NM_002458.3(MUC5B):c.6855G>A:p.Thr2285=	coding	Benign
11	1244556	C	T	C1244556T	MUC5B	NM_002458.3(MUC5B):c.7676C>T:p.Thr2559Met	coding	Benign
11	1244757	C	G	C1244757G	MUC5B	NM_002458.3(MUC5B):c.7877C>G:p.Thr2626Arg	coding	Benign
11	1245369	C	T	C1245369T	MUC5B	NM_002458.3(MUC5B):c.8489C>T:p.Pro2830Leu	coding	Benign
11	1245466	A	C	A1245466C	MUC5B	NM_002458.3(MUC5B):c.8586A>C:p.Pro2862=	coding	Benign
11	1245486	T	C	T1245486C	MUC5B	NM_002458.3(MUC5B):c.8606T>C:p.Met2869Thr	coding	Benign
11	1245928	G	A	G1245928A	MUC5B	NM_002458.3(MUC5B):c.9048G>A:p.Pro3016=	coding	Benign
11	1246095	T	C	T1246095C	MUC5B	NM_002458.3(MUC5B):c.9215T>C:p.Phe3072Ser	coding	Benign
11	1246332	C	T	C1246332T	MUC5B	NM_002458.3(MUC5B):c.9452C>T:p.Thr3151Met	coding	Benign
11	1246381	C	G	C1246381G	MUC5B	NM_002458.3(MUC5B):c.9501C>G:p.Pro3167=	coding	Benign
11	1246458	T	C	T1246458C	MUC5B	NM_002458.3(MUC5B):c.9578T>C:p.Leu3193Pro	coding	Benign
11	1246473	G	C	G1246473C	MUC5B	NM_002458.3(MUC5B):c.9593G>C:p.Ser3198Thr	coding	Benign
11	1246483	C	G	C1246483G	MUC5B	NM_002458.3(MUC5B):c.9603C>G:p.Thr3201=	coding	Benign
11	1246497	T	C	T1246497C	MUC5B	NM_002458.3(MUC5B):c.9617T>C:p.Ile3206Thr	coding	Benign
11	1246506	G	A	G1246506A	MUC5B	NM_002458.3(MUC5B):c.9626G>A:p.Arg3209Lys	coding	Benign
11	1246687	T	C	T1246687C	MUC5B	NM_002458.3(MUC5B):c.9807T>C:p.Ser3269=	coding	Benign
11	1246730	A	G	A1246730G	MUC5B	NM_002458.3(MUC5B):c.9850A>G:p.Thr3284Ala	coding	Benign
11	1246834	C	T	C1246834T	MUC5B	NM_002458.3(MUC5B):c.9954C>T:p.Ala3318=	coding	Benign
11	1247283	G	C	G1247283C	MUC5B	NM_002458.3(MUC5B):c.10403G>C:p.Arg3468Pro	coding	Benign
11	1247378	A	G	A1247378G	MUC5B	NM_002458.3(MUC5B):c.10498A>G:p.Ser3500Gly	coding	Benign
11	1247407	G	T	G1247407T	MUC5B	NM_002458.3(MUC5B):c.10527G>T:p.Leu3509=	coding	Benign
11	1247452	T	C	T1247452C	MUC5B	NM_002458.3(MUC5B):c.10572T>C:p.Ser3524=	coding	Benign
11	1247701	A	C	A1247701C	MUC5B	NM_002458.3(MUC5B):c.10821A>C:p.Ala3607=	coding	Benign
11	1247725	C	T	C1247725T	MUC5B	NM_002458.3(MUC5B):c.10845C>T:p.Leu3615=	coding	Benign
11	1247985	C	T	C1247985T	MUC5B	NM_002458.3(MUC5B):c.11105C>T:p.Thr3702Met	coding	Benign
11	1248397	C	T	C1248397T	MUC5B	NM_002458.3(MUC5B):c.11517C>T:p.Thr3839=	coding	Benign
11	1248442	T	C	T1248442C	MUC5B	NM_002458.3(MUC5B):c.11562T>C:p.Ser3854=	coding	Benign
11	1248477	C	T	C1248477T	MUC5B	NM_002458.3(MUC5B):c.11597C>T:p.Pro3866Leu	coding	Benign
11	1248605	G	A	G1248605A	MUC5B	NM_002458.3(MUC5B):c.11725G>A:p.Val3909Ile	coding	Benign
11	1249417	G	C	G1249417C	MUC5B	NM_002458.3(MUC5B):c.12537G>C:p.Gln4179His	coding	Benign
11	1249847	G	T	G1249847T	MUC5B	NM_002458.3(MUC5B):c.12967G>T:p.Val4323Phe	coding	Benign
11	1250091	C	G	C1250091G	MUC5B	NM_002458.3(MUC5B):c.13211C>G:p.Ala4404Gly	coding	Benign
11	1250199	C	T	C1250199T	MUC5B	NM_002458.3(MUC5B):c.13319C>T:p.Pro4440Leu	coding	Benign
11	1250278	G	A	G1250278A	MUC5B	NM_002458.3(MUC5B):c.13398G>A:p.Thr4466=	coding	Benign
11	1250631	C	T	C1250631T	MUC5B	NM_002458.3(MUC5B):c.13751C>T:p.Thr4584Ile	coding	Benign
11	1250937	C	T	C1250937T	MUC5B	NM_002458.3(MUC5B):c.14057C>T:p.Thr4686Met	coding	Benign
11	1250996	A	C	A1250996C	MUC5B	NM_002458.3(MUC5B):c.14116A>C:p.Thr4706Pro	coding	Benign
11	1251628	C	T	C1251628T	MUC5B	NM_002458.3(MUC5B):c.14748C>T:p.Phe4916=	coding	Benign
11	1252416	T	C	T1252416C	MUC5B	NM_002458.3(MUC5B):c.14937T>C:p.Ile4979=	coding	Benign
11	1252867	G	A	G1252867A	MUC5B	NM_002458.3(MUC5B):c.15104G>A:p.Arg5035His	coding	Benign
11	1254088	G	A	G1254088A	MUC5B	NM_002458.3(MUC5B):c.15218-4G>A	noncoding	Benign
11	1254324	C	T	C1254324T	MUC5B	NM_002458.3(MUC5B):c.15450C>T:p.Thr5150=	coding	Benign
11	1254362	G	A	G1254362A	MUC5B	NM_002458.3(MUC5B):c.15477+11G>A	noncoding	Benign
11	1254363	C	A	C1254363A	MUC5B	NM_002458.3(MUC5B):c.15477+12C>A	noncoding	Benign
11	1254681	T	C	T1254681C	MUC5B	NM_002458.3(MUC5B):c.15478-13T>C	noncoding	Benign
11	1254758	T	C	T1254758C	MUC5B	NM_002458.3(MUC5B):c.15542T>C:p.Leu5181Pro	coding	Benign
11	1254776	G	A	G1254776A	MUC5B	NM_002458.3(MUC5B):c.15560G>A:p.Arg5187His	coding	Benign
11	1255097	G	A	G1255097A	MUC5B	NM_002458.3(MUC5B):c.15721G>A:p.Ala5241Thr	coding	Benign
11	1255165	G	A	G1255165A	MUC5B	NM_002458.3(MUC5B):c.15789G>A:p.Pro5263=	coding	Benign
11	1255193	G	C	G1255193C	MUC5B	NM_002458.3(MUC5B):c.15817G>C:p.Ala5273Pro	coding	Benign
11	1255202	G	T	G1255202T	MUC5B	NM_002458.3(MUC5B):c.15826G>T:p.Val5276Leu	coding	Benign/Likely_benign
11	1255237	A	G	A1255237G	MUC5B	NM_002458.3(MUC5B):c.15861A>G:p.Pro5287=	coding	Benign/Likely_benign
11	1255431	C	T	C1255431T	MUC5B	NM_002458.3(MUC5B):c.15939C>T:p.Asn5313=	coding	Benign
11	1255464	T	C	T1255464C	MUC5B	NM_002458.3(MUC5B):c.15972T>C:p.Leu5324=	coding	Benign
11	1255506	C	T	C1255506T	MUC5B	NM_002458.3(MUC5B):c.16014C>T:p.Cys5338=	coding	Benign
11	1255510	G	A	G1255510A	MUC5B	NM_002458.3(MUC5B):c.16018G>A:p.Ala5340Thr	coding	Benign
11	1255545	C	T	C1255545T	MUC5B	NM_002458.3(MUC5B):c.16053C>T:p.Thr5351=	coding	Benign
11	1256199	C	A	C1256199A	MUC5B	NM_002458.3(MUC5B):c.16110C>A:p.Pro5370=	coding	Benign
11	1256664	C	T	C1256664T	MUC5B	NM_002458.3(MUC5B):c.16137-7C>T	coding	Benign
11	1256723	G	A	G1256723A	MUC5B	NM_002458.3(MUC5B):c.16189G>A:p.Asp5397Asn	coding	Benign
11	1257532	C	T	C1257532T	MUC5B	NM_002458.3(MUC5B):c.16272C>T:p.Pro5424=	coding	Benign
11	1257566	G	A	G1257566A	MUC5B	NM_002458.3(MUC5B):c.16306G>A:p.Val5436Met	coding	Benign
11	1257682	G	C	G1257682C	MUC5B	NM_002458.3(MUC5B):c.16422G>C:p.Glu5474Asp	coding	Benign
11	1257718	G	C	G1257718C	MUC5B	NM_002458.3(MUC5B):c.16450+8G>C	noncoding	Benign
11	1257719	C	G	C1257719G	MUC5B	NM_002458.3(MUC5B):c.16450+9C>G	noncoding	Benign
11	1258124	G	A	G1258124A	MUC5B	NM_002458.3(MUC5B):c.16476G>A:p.Gln5492=	coding	Benign
11	1258382	G	C	G1258382C	MUC5B	NM_002458.3(MUC5B):c.16593+15G>C	noncoding	Benign
11	1259008	G	A	G1259008A	MUC5B	NM_002458.3(MUC5B):c.16660G>A:p.Asp5554Asn	coding	Benign
11	1259071	G	A	G1259071A	MUC5B	NM_002458.3(MUC5B):c.16713+10G>A	noncoding	Benign
11	1259968	T	C	T1259968C	MUC5B	NM_002458.3(MUC5B):c.16806T>C:p.Asn5602=	coding	Benign
11	1260021	C	T	C1260021T	MUC5B	NM_002458.3(MUC5B):c.16859C>T:p.Ala5620Val	coding	Benign
11	1260346	A	C	A1260346C	MUC5B	NM_002458.3(MUC5B):c.16924-5A>C	noncoding	Benign
11	1260643	A	G	A1260643G	MUC5B	NM_002458.3(MUC5B):c.16984A>G:p.Ile5662Val	coding	Benign
11	1260655	A	G	A1260655G	MUC5B	NM_002458.3(MUC5B):c.16996A>G:p.Ile5666Val	coding	Benign
11	1260702	C	T	C1260702T	MUC5B	NM_002458.3(MUC5B):c.17043C>T:p.Cys5681=	coding	Benign
11	1277074	T	C	T1277074C	TOLLIP	NM_019009.4(TOLLIP):c.790A>G:p.Ile264Val	coding	Benign
11	1436037	C	T	C1436037T	BRSK2	NM_001256627.2(BRSK2):c.92-3C>T	noncoding	Benign
11	1442607	G	A	G1442607A	BRSK2	NM_001256627.2(BRSK2):c.530+1G>A	coding	Pathogenic
11	1557802	G	A	G1557802A	DUSP8	NM_004420.3(DUSP8):c.813C>T:p.Asp271=	coding	Benign
11	1630415	A	G	A1630415G	KRTAP5-5	NM_001001480.2(KRTAP5-5):c.575A>G:p.Tyr192Cys	coding	Benign
11	1752906	T	G	T1752906G	CTSD	NM_001909.5(CTSD):c.*597A>C	noncoding	Benign
11	1753203	C	T	C1753203T	CTSD	NM_001909.5(CTSD):c.*300G>A	noncoding	Benign
11	1753436	T	C	T1753436C	CTSD	NM_001909.5(CTSD):c.*67A>G	noncoding	Benign
11	1753484	C	T	C1753484T	CTSD	NM_001909.5(CTSD):c.*19G>A	noncoding	Benign
11	1753527	G	T	G1753527T	CTSD	NM_001909.5(CTSD):c.1215C>A:p.Gly405=	coding	Benign
11	1753546	C	T	C1753546T	CTSD	NM_001909.5(CTSD):c.1196G>A:p.Arg399His	coding	Pathogenic
11	1753593	C	G	C1753593G	CTSD	NM_001909.5(CTSD):c.1149G>C:p.Trp383Cys	coding	Pathogenic
11	1753620	G	A	G1753620A	CTSD	NM_001909.5(CTSD):c.1122C>T:p.Asp374=	coding	Benign/Likely_benign
11	1753626	G	A	G1753626A	CTSD	NM_001909.5(CTSD):c.1116C>T:p.Gly372=	coding	Benign/Likely_benign
11	1753665	C	T	C1753665T	CTSD	NM_001909.5(CTSD):c.1077G>A:p.Ser359=	coding	Benign/Likely_benign
11	1753677	C	T	C1753677T	CTSD	NM_001909.5(CTSD):c.1072-7G>A	noncoding	Benign/Likely_benign
11	1753704	A	G	A1753704G	CTSD	NM_001909.5(CTSD):c.1072-34T>C	noncoding	Benign
11	1754009	C	T	C1754009T	CTSD	NM_001909.5(CTSD):c.957G>A:p.Pro319=	coding	Benign/Likely_benign
11	1754015	G	A	G1754015A	CTSD	NM_001909.5(CTSD):c.951C>T:p.Ala317=	coding	Benign
11	1754120	C	T	C1754120T	CTSD	NM_001909.5(CTSD):c.846G>A:p.Gly282=	coding	Benign
11	1754122	C	T	C1754122T	CTSD	NM_001909.5(CTSD):c.844G>A:p.Gly282Arg	coding	Benign/Likely_benign
11	1754155	C	T	C1754155T	CTSD	NM_001909.5(CTSD):c.828-17G>A	noncoding	Benign
11	1754156	G	A	G1754156A	CTSD	NM_001909.5(CTSD):c.828-18C>T	noncoding	Benign
11	1754157	T	G	T1754157G	CTSD	NM_001909.5(CTSD):c.828-19A>C	noncoding	Benign
11	1755102	G	A	G1755102A	CTSD	NM_001909.5(CTSD):c.705-74C>T	noncoding	Benign
11	1757091	C	T	C1757091T	CTSD	NM_001909.5(CTSD):c.704+233G>A	noncoding	Benign
11	1757343	A	T	A1757343T	CTSD	NM_001909.5(CTSD):c.685T>A:p.Phe229Ile	coding	Pathogenic
11	1757398	G	A	G1757398A	CTSD	NM_001909.5(CTSD):c.630C>T:p.Asn210=	coding	Benign/Likely_benign
11	1757717	C	A	C1757717A	CTSD	NM_001909.5(CTSD):c.472-161G>T	noncoding	Benign
11	1758954	C	G	C1758954G	CTSD	NM_001909.5(CTSD):c.471+15G>C	noncoding	Benign
11	1758975	A	G	A1758975G	CTSD	NM_001909.5(CTSD):c.465T>C:p.Thr155=	coding	Benign
11	1758994	C	A	C1758994A	CTSD	NM_001909.5(CTSD):c.446G>T:p.Gly149Val	coding	Pathogenic
11	1759098	C	T	C1759098T	CTSD	NM_001909.5(CTSD):c.353-11G>A	noncoding	Benign
11	1759099	G	A	G1759099A	CTSD	NM_001909.5(CTSD):c.353-12C>T	noncoding	Benign/Likely_benign
11	1759104	G	A	G1759104A	CTSD	NM_001909.5(CTSD):c.353-17C>T	noncoding	Benign
11	1759598	C	T	C1759598T	CTSD	NM_001909.5(CTSD):c.270G>A:p.Gln90=	coding	Benign
11	1759607	C	T	C1759607T	CTSD	NM_001909.5(CTSD):c.261G>A:p.Thr87=	coding	Benign/Likely_benign
11	1759637	G	A	G1759637A	CTSD	NM_001909.5(CTSD):c.231C>T:p.Ala77=	coding	Benign
11	1761291	C	A	C1761291A	CTSD	NM_001909.5(CTSD):c.228+18G>T	noncoding	Benign
11	1761309	G	A	G1761309A	CTSD	NM_001909.5(CTSD):c.228C>T:p.Asp76=	coding	Benign
11	1761321	C	T	C1761321T	CTSD	NM_001909.5(CTSD):c.216G>A:p.Lys72=	coding	Benign/Likely_benign
11	1761348	G	A	G1761348A	CTSD	NM_001909.5(CTSD):c.189C>T:p.Thr63=	coding	Benign
11	1761364	G	A	G1761364A	CTSD	NM_001909.5(CTSD):c.173C>T:p.Ala58Val	coding	Benign/Likely_benign
11	1761384	G	A	G1761384A	CTSD	NM_001909.5(CTSD):c.153C>T:p.Pro51=	coding	Benign/Likely_benign
11	1761485	G	A	G1761485A	CTSD	NM_001909.5(CTSD):c.69-17C>T	noncoding	Benign
11	1764171	T	C	T1764171C	CTSD	NC_000011.10:g.1764171T>C	noncoding	Benign
11	1835970	T	A	T1835970A	SYT8	NM_138567.5(SYT8):c.385T>A:p.Phe129Ile	coding	Benign
11	1836846	C	T	C1836846T	SYT8	NM_138567.5(SYT8):c.817C>T:p.Arg273Cys	coding	Benign
11	1840530	T	C	T1840530C	TNNI2	NM_003282.4(TNNI2):c.60T>C:p.Ser20=	coding	Benign/Likely_benign
11	1840620	G	A	G1840620A	TNNI2	NM_003282.4(TNNI2):c.150G>A:p.Pro50=	coding	Benign/Likely_benign
11	1840682	G	A	G1840682A	TNNI2	NM_003282.4(TNNI2):c.186+26G>A	noncoding	Benign
11	1840938	C	T	C1840938T	TNNI2	NM_003282.4(TNNI2):c.276+30C>T	noncoding	Benign
11	1841014	G	A	G1841014A	TNNI2	NM_003282.4(TNNI2):c.277-17G>A	noncoding	Benign
11	1841192	G	A	G1841192A	TNNI2	NM_003282.4(TNNI2):c.438G>A:p.Lys146=	coding	Benign
11	1841210	G	A	G1841210A	TNNI2	NM_003282.4(TNNI2):c.453+3G>A	noncoding	Benign/Likely_benign
11	1841468	C	T	C1841468T	TNNI2	NM_003282.4(TNNI2):c.466C>T:p.Arg156Ter	coding	Pathogenic
11	1841495	A	T	A1841495T	TNNI2	NM_003282.4(TNNI2):c.493A>T:p.Ile165Phe	coding	Pathogenic
11	1841523	G	A	G1841523A	TNNI2	NM_003282.4(TNNI2):c.521G>A:p.Arg174Gln	coding	Pathogenic
11	1841645	C	T	C1841645T	TNNI2	NM_003282.4(TNNI2):c.*94C>T	noncoding	Benign/Likely_benign
11	1926716	C	T	C1926716T	TNNT3	NM_006757.4(TNNT3):c.82+7C>T	noncoding	Benign/Likely_benign
11	1929072	A	G	A1929072G	TNNT3	NM_006757.4(TNNT3):c.83-48A>G	noncoding	Benign
11	1929878	G	C	G1929878C	TNNT3	NM_006757.4(TNNT3):c.125+50G>C	noncoding	Benign
11	1933736	C	T	C1933736T	TNNT3	NM_006757.4(TNNT3):c.187C>T:p.Arg63Cys	coding	Pathogenic/Likely_pathogenic
11	1933737	G	A	G1933737A	TNNT3	NM_006757.4(TNNT3):c.188G>A:p.Arg63His	coding	Pathogenic
11	1934005	G	A	G1934005A	TNNT3	NM_006757.4(TNNT3):c.363G>A:p.Leu121=	coding	Benign
11	1934018	C	A	C1934018A	TNNT3	NM_006757.4(TNNT3):c.366+10C>A	noncoding	Benign/Likely_benign
11	1934316	A	G	A1934316G	TNNT3	NM_006757.4(TNNT3):c.367-16A>G	noncoding	Benign
11	1934323	T	C	T1934323C	TNNT3	NM_006757.4(TNNT3):c.367-9T>C	noncoding	Benign/Likely_benign
11	1934379	G	A	G1934379A	TNNT3	NM_006757.4(TNNT3):c.414G>A:p.Glu138=	coding	Benign/Likely_benign
11	1934455	G	T	G1934455T	TNNT3	NM_006757.4(TNNT3):c.480+10G>T	noncoding	Benign/Likely_benign
11	1934874	T	C	T1934874C	TNNT3	NM_006757.4(TNNT3):c.636T>C:p.Ile212=	coding	Benign/Likely_benign
11	1936979	G	A	G1936979A	TNNT3	NM_006757.4(TNNT3):c.698G>A:p.Ser233Asn	coding	Benign
11	1938477	C	T	C1938477T	TNNT3	NM_006757.4(TNNT3):c.762C>T:p.Gly254=	coding	Benign/Likely_benign
11	1938528	C	T	C1938528T	TNNT3	NM_006757.4(TNNT3):c.*36C>T	noncoding	Benign/Likely_benign
11	1952119	G	A	G1952119A	MRPL23	NM_021134.4(MRPL23):c.141-8G>A	noncoding	Benign
11	2133063	C	T	C2133063T	IGF2	NM_000612.6(IGF2):c.467G>A:p.Arg156His	coding	Benign
11	2133149	G	A	G2133149A	IGF2	NM_000612.6(IGF2):c.381C>T:p.Arg127=	coding	Benign
11	2133589	G	C	G2133589C	IGF2	NM_000612.6(IGF2):c.234C>G:p.Ala78=	coding	Benign
11	2135364	T	G	T2135364G	IGF2	NM_000612.6(IGF2):c.157+3A>C	noncoding	Pathogenic
11	2135423	C	T	C2135423T	IGF2	NM_000612.6(IGF2):c.101G>A:p.Gly34Asp	coding	Pathogenic
11	2135425	G	T	G2135425T	IGF2	NM_000612.6(IGF2):c.99C>A:p.Cys33Ter	coding	Pathogenic
11	2135446	G	C	G2135446C	IGF2	NM_000612.6(IGF2):c.78C>G:p.Tyr26Ter	coding	Pathogenic
11	2135501	G	T	G2135501T	IGF2	NM_000612.6(IGF2):c.23C>A:p.Ser8Ter	coding	Pathogenic
11	2140207	G	A	G2140207A	IGF2	NM_001127598.3(IGF2):c.90C>T:p.Thr30=	coding	Benign
11	2159793	T	C	T2159793C	INS	NM_000207.3(INS):c.*59A>G	coding	Pathogenic
11	2159830	T	G	T2159830G	INS;TH;INS-IGF2	NM_000207.3(INS):c.*22A>C	coding	Benign
11	2159843	G	A	G2159843A	INS;TH;INS-IGF2	NM_000207.3(INS):c.*9C>T	coding	Benign/Likely_benign
11	2159862	T	C	T2159862C	INS	NM_000207.3(INS):c.323A>G:p.Tyr108Cys	coding	Pathogenic
11	2159898	C	T	C2159898T	INS	NM_000207.3(INS):c.287G>A:p.Cys96Tyr	coding	Pathogenic
11	2159911	C	A	C2159911A	INS	NM_000207.3(INS):c.274G>T:p.Val92Leu	coding	Pathogenic
11	2159917	C	A	C2159917A	INS	NM_000207.3(INS):c.268G>T:p.Gly90Cys	coding	Pathogenic
11	2159919	C	A	C2159919A	INS	NM_000207.3(INS):c.266G>T:p.Arg89Leu	coding	Pathogenic
11	2159919	C	G	C2159919G	INS	NM_000207.3(INS):c.266G>C:p.Arg89Pro	coding	Pathogenic
11	2159919	C	T	C2159919T	INS	NM_000207.3(INS):c.266G>A:p.Arg89His	coding	Pathogenic
11	2159920	G	A	G2159920A	INS	NM_000207.3(INS):c.265C>T:p.Arg89Cys	coding	Pathogenic
11	2160007	C	T	C2160007T	INS	NM_000207.3(INS):c.188-10G>A	noncoding	Benign/Likely_benign
11	2160013	G	A	G2160013A	INS	NM_000207.3(INS):c.188-16C>T	noncoding	Benign
11	2160028	C	T	C2160028T	INS	NM_000207.3(INS):c.188-31G>A	noncoding	Pathogenic
11	2160544	C	T	C2160544T	INS	NM_000207.3(INS):c.187+241G>A	noncoding	Pathogenic
11	2160809	G	A	G2160809A	INS	NM_000207.3(INS):c.163C>T:p.Arg55Cys	coding	Pathogenic
11	2160817	G	A	G2160817A	INS-IGF2	NM_000207.3(INS):c.155C>T:p.Pro52Leu	coding	Pathogenic
11	2160825	G	C	G2160825C	INS	NM_000207.3(INS):c.147C>G:p.Phe49Leu	coding	Pathogenic
11	2160829	A	C	A2160829C	INS	NM_000207.3(INS):c.143T>G:p.Phe48Cys	coding	Pathogenic
11	2160829	A	G	A2160829G	INS	NM_000207.3(INS):c.143T>C:p.Phe48Ser	coding	Pathogenic
11	2160832	C	A	C2160832A	INS	NM_000207.3(INS):c.140G>T:p.Gly47Val	coding	Pathogenic
11	2160835	C	T	C2160835T	INS	NM_000207.3(INS):c.137G>A:p.Arg46Gln	coding	Pathogenic
11	2160842	C	T	C2160842T	INS	NM_000207.3(INS):c.130G>A:p.Gly44Arg	coding	Benign/Likely_benign
11	2160845	A	C	A2160845C	INS	NM_000207.3(INS):c.127T>G:p.Cys43Gly	coding	Pathogenic
11	2160872	G	C	G2160872C	INS	NM_000207.3(INS):c.100C>G:p.His34Asp	coding	Pathogenic
11	2160878	C	G	C2160878G	INS	NM_000207.3(INS):c.94G>C:p.Gly32Arg	coding	Pathogenic
11	2160878	C	T	C2160878T	INS;INS-IGF2	NM_000207.3(INS):c.94G>A:p.Gly32Ser	coding	Pathogenic
11	2160900	G	T	G2160900T	INS	NM_000207.3(INS):c.72C>A:p.Ala24=	coding	Benign/Likely_benign
11	2160901	G	T	G2160901T	INS	NM_000207.3(INS):c.71C>A:p.Ala24Asp	coding	Pathogenic
11	2160905	C	T	C2160905T	INS	NM_000207.3(INS):c.67G>A:p.Ala23Thr	coding	Benign/Likely_benign
11	2160909	T	C	T2160909C	INS	NM_000207.3(INS):c.63A>G:p.Pro21=	coding	Benign
11	2160936	C	T	C2160936T	INS;TH;INS-IGF2	NM_000207.3(INS):c.36G>A:p.Ala12=	coding	Benign/Likely_benign
11	2160956	G	A	G2160956A	INS	NM_000207.3(INS):c.16C>T:p.Arg6Cys	coding	Pathogenic
11	2160969	C	A	C2160969A	INS	NM_000207.3(INS):c.3G>T:p.Met1Ile	coding	Pathogenic
11	2160969	C	T	C2160969T	INS	NM_000207.3(INS):c.3G>A:p.Met1Ile	coding	Pathogenic
11	2160980	G	A	G2160980A	INS;TH;INS-IGF2	NM_000207.3(INS):c.-9C>T	noncoding	Benign/Likely_benign
11	2160994	A	T	A2160994T	INS;TH;INS-IGF2	NM_000207.3(INS):c.-17-6T>A	noncoding	Benign
11	2161189	T	G	T2161189G	INS	NM_000207.3(INS):c.-39A>C	noncoding	Pathogenic
11	2161302	G	C	G2161302C	INS	NM_000207.2(INS):c.-152C>G	noncoding	Pathogenic
11	2161302	G	T	G2161302T	INS	NM_000207.2(INS):c.-152C>A	noncoding	Pathogenic
11	2164326	G	A	G2164326A	INS;TH	NM_000360.4(TH):c.1401C>T:p.Asp467=	coding	Benign/Likely_benign
11	2165288	C	T	C2165288T	INS;TH	NM_000360.4(TH):c.1278G>A:p.Thr426=	coding	Benign/Likely_benign
11	2165659	G	A	G2165659A	INS;TH	NM_000360.4(TH):c.1200+9C>T	noncoding	Benign/Likely_benign
11	2165787	A	T	A2165787T	TH	NM_000360.4(TH):c.1105-24T>A	noncoding	Pathogenic
11	2166492	C	A	C2166492A	TH	NM_000360.4(TH):c.1035G>T:p.Ala345=	coding	Benign
11	2166536	C	A	C2166536A	TH	NM_000360.4(TH):c.991G>T:p.Glu331Ter	coding	Pathogenic
11	2166544	C	A	C2166544A	TH	NM_000360.4(TH):c.983G>T:p.Cys328Phe	coding	Pathogenic
11	2166625	G	C	G2166625C	TH	NM_000360.4(TH):c.977+8C>G	noncoding	Benign
11	2166995	T	G	T2166995G	TH	NM_000360.4(TH):c.733A>C:p.Thr245Pro	coding	Pathogenic
11	2167008	C	T	C2167008T	TH	NM_000360.4(TH):c.720G>A:p.Lys240=	coding	Benign
11	2167446	C	T	C2167446T	TH	NM_000360.4(TH):c.684G>A:p.Glu228=	coding	Benign/Likely_benign
11	2167458	G	C	G2167458C	TH	NM_000360.4(TH):c.672C>G:p.Tyr224Ter	coding	Pathogenic
11	2167484	C	T	C2167484T	TH	NM_000360.4(TH):c.646G>A:p.Gly216Ser	coding	Pathogenic
11	2167883	G	C	G2167883C	TH	NM_000360.4(TH):c.627C>G:p.Ile209Met	coding	Benign/Likely_benign
11	2167896	A	G	A2167896G	TH	NM_000360.4(TH):c.614T>C:p.Leu205Pro	coding	Pathogenic/Likely_pathogenic
11	2167905	C	T	C2167905T	TH	NM_000360.4(TH):c.605G>A:p.Arg202His	coding	Pathogenic
11	2167909	G	A	G2167909A	TH	NM_000360.4(TH):c.601C>T:p.Gln201Ter	coding	Pathogenic
11	2167931	G	A	G2167931A	TH	NM_000360.4(TH):c.579C>T:p.Gly193=	coding	Benign
11	2167955	G	A	G2167955A	TH	NM_000360.4(TH):c.577-22C>T	noncoding	Benign
11	2168488	C	T	C2168488T	TH	NM_000360.4(TH):c.487+3G>A	noncoding	Benign
11	2168530	G	A	G2168530A	TH	NM_000360.4(TH):c.448C>T:p.Gln150Ter	coding	Pathogenic
11	2168614	G	A	G2168614A	TH	NM_000360.4(TH):c.364C>T:p.Arg122Ter	coding	Pathogenic
11	2168674	G	A	G2168674A	TH	NM_000360.4(TH):c.313-9C>T	noncoding	Benign
11	2169361	C	G	C2169361G	TH	NM_000360.4(TH):c.312+289G>C	noncoding	Benign
11	2169695	C	T	C2169695T	TH	NM_000360.4(TH):c.267G>A:p.Arg89=	coding	Benign/Likely_benign
11	2169698	C	T	C2169698T	TH	NM_000360.4(TH):c.264G>A:p.Pro88=	coding	Benign
11	2169721	C	T	C2169721T	TH	NM_000360.4(TH):c.241G>A:p.Val81Met	coding	Benign
11	2169752	A	G	A2169752G	TH	NM_000360.4(TH):c.210T>C:p.Ala70=	coding	Benign
11	2169776	C	T	C2169776T	TH	NM_000360.4(TH):c.186G>A:p.Ser62=	coding	Benign
11	2171721	G	A	G2171721A	TH	NM_000360.4(TH):c.66C>T:p.Asp22=	coding	Benign
11	2171736	G	A	G2171736A	TH	NM_000360.4(TH):c.51C>T:p.Ala17=	coding	Benign
11	2171856	C	T	C2171856T	TH	NM_199292.2(TH):c.-70G>A	noncoding	Pathogenic
11	2304154	G	A	G2304154A	TSPAN32	NM_139022.3(TSPAN32):c.229G>A:p.Val77Met	coding	Benign
11	2395475	T	C	T2395475C	CD81	NM_004356.3(CD81):c.414T>C:p.Asp138=	coding	Benign/Likely_benign
11	2395514	C	T	C2395514T	CD81	NM_004356.4(CD81):c.453C>T:p.His151=	coding	Benign
11	2395524	C	T	C2395524T	CD81	NM_004356.4(CD81):c.459+4C>T	noncoding	Benign
11	2395971	G	A	G2395971A	CD81	NM_004356.3(CD81):c.561+1G>A	coding	Pathogenic
11	2396663	C	T	C2396663T	CD81	NM_004356.4(CD81):c.597C>T:p.Ser199=	coding	Benign
11	2396724	C	T	C2396724T	CD81	NM_004356.4(CD81):c.648+10C>T	noncoding	Benign
11	2403004	G	A	G2403004A	TSSC4	NM_005706.4(TSSC4):c.371G>A:p.Arg124Gln	coding	Benign
11	2403497	C	T	C2403497T	TSSC4	NM_005706.4(TSSC4):c.864C>T:p.Val288=	coding	Benign
11	2405029	C	T	C2405029T	TRPM5	NM_014555.3(TRPM5):c.3406G>A:p.Gly1136Ser	coding	Benign
11	2414103	G	A	G2414103A	TRPM5	NM_014555.3(TRPM5):c.1848C>T:p.Thr616=	coding	Benign
11	2414737	C	T	C2414737T	TRPM5	NM_014555.3(TRPM5):c.1722G>A:p.Ala574=	coding	Benign
11	2415235	G	A	G2415235A	TRPM5	NM_014555.3(TRPM5):c.1365C>T:p.Pro455=	coding	Benign
11	2415329	C	T	C2415329T	TRPM5	NM_014555.3(TRPM5):c.1271G>A:p.Arg424His	coding	Benign
11	2415394	G	A	G2415394A	TRPM5	NM_014555.3(TRPM5):c.1206C>T:p.Asn402=	coding	Benign
11	2417794	G	A	G2417794A	TRPM5	NM_014555.3(TRPM5):c.942C>T:p.Thr314=	coding	Benign
11	2418560	G	A	G2418560A	TRPM5	NM_014555.3(TRPM5):c.681C>T:p.Cys227=	coding	Benign
11	2418587	A	T	A2418587T	TRPM5	NM_014555.3(TRPM5):c.654T>A:p.Thr218=	coding	Benign
11	2445099	A	T	A2445099T	KCNQ1	NM_000218.2(KCNQ1):c.1A>T:p.Met1Leu	coding	Pathogenic
11	2445100	T	A	T2445100A	KCNQ1	NM_000218.2(KCNQ1):c.2T>A:p.Met1Lys	coding	Pathogenic
11	2445135	A	T	A2445135T	KCNQ1	NM_000218.2(KCNQ1):c.37A>T:p.Lys13Ter	coding	Pathogenic
11	2445149	G	A	G2445149A	KCNQ1	NM_000218.2(KCNQ1):c.51G>A:p.Trp17Ter	coding	Pathogenic
11	2445192	A	T	A2445192T	KCNQ1	NM_000218.2(KCNQ1):c.94A>T:p.Lys32Ter	coding	Pathogenic
11	2445213	G	T	G2445213T	KCNQ1	NM_000218.2(KCNQ1):c.115G>T:p.Glu39Ter	coding	Pathogenic
11	2445251	C	A	C2445251A	KCNQ1	NM_000218.3(KCNQ1):c.153C>A:p.Tyr51Ter	coding	Pathogenic
11	2445251	C	G	C2445251G	KCNQ1	NM_000218.2(KCNQ1):c.153C>G:p.Tyr51Ter	coding	Pathogenic
11	2445305	G	T	G2445305T	KCNQ1	NM_000218.3(KCNQ1):c.207G>T:p.Ala69=	coding	Benign/Likely_benign
11	2445323	T	C	T2445323C	KCNQ1	NM_000218.3(KCNQ1):c.225T>C:p.Val75=	coding	Benign/Likely_benign
11	2445430	A	G	A2445430G	KCNQ1	NM_000218.2(KCNQ1):c.332A>G:p.Tyr111Cys	coding	Pathogenic
11	2445441	G	A	G2445441A	KCNQ1	NM_000218.2(KCNQ1):c.343G>A:p.Glu115Lys	coding	Pathogenic
11	2445448	C	T	C2445448T	KCNQ1	NM_000218.2(KCNQ1):c.350C>T:p.Pro117Leu	coding	Pathogenic
11	2445463	G	A	G2445463A	KCNQ1	NM_000218.2(KCNQ1):c.365G>A:p.Cys122Tyr	coding	Pathogenic
11	2445473	C	A	C2445473A	KCNQ1	NM_000218.2(KCNQ1):c.375C>A:p.Tyr125Ter	coding	Pathogenic
11	2461155	G	A	G2461155A	KCNQ1	NM_000218.2(KCNQ1):c.386+15671G>A	noncoding	Benign
11	2461325	G	A	G2461325A	KCNQ1	NM_000218.2(KCNQ1):c.386+15841G>A	noncoding	Benign
11	2461726	G	A	G2461726A	KCNQ1	NM_000218.3(KCNQ1):c.386+16242G>A	noncoding	Benign
11	2527910	C	T	C2527910T	KCNQ1	NM_181798.1(KCNQ1):c.6-18C>T	noncoding	Benign
11	2527911	G	A	G2527911A	KCNQ1	NM_000218.3(KCNQ1):c.387-17G>A	noncoding	Benign
11	2527950	C	T	C2527950T	KCNQ1	NM_181798.1(KCNQ1):c.28C>T:p.Leu10Phe	coding	Pathogenic
11	2527959	A	G	A2527959G	KCNQ1	NM_181798.1(KCNQ1):c.37A>G:p.Ser13Gly	coding	Pathogenic
11	2527962	G	A	G2527962A	KCNQ1	NM_181798.1(KCNQ1):c.40G>A:p.Val14Met	coding	Pathogenic/Likely_pathogenic
11	2527976	C	T	C2527976T	KCNQ1	NM_000218.3(KCNQ1):c.435C>T:p.Ile145=	coding	Benign/Likely_benign
11	2527988	C	T	C2527988T	KCNQ1	NM_000218.3(KCNQ1):c.447C>T:p.Ala149=	coding	Benign/Likely_benign
11	2528019	G	A	G2528019A	KCNQ1	NM_181798.1(KCNQ1):c.96+1G>A	coding	Pathogenic
11	2528023	G	A	G2528023A	KCNQ1	NM_181798.1(KCNQ1):c.96+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	2528027	C	T	C2528027T	KCNQ1	NM_000218.3(KCNQ1):c.477+9C>T	noncoding	Benign/Likely_benign
11	2570618	G	A	G2570618A	KCNQ1	NM_000218.3(KCNQ1):c.478-10G>A	noncoding	Benign
11	2570620	C	T	C2570620T	KCNQ1	NM_000218.3(KCNQ1):c.478-8C>T	noncoding	Benign/Likely_benign
11	2570652	G	A	G2570652A	KCNQ1	NM_181798.1(KCNQ1):c.121G>A:p.Gly41Arg	coding	Pathogenic
11	2570652	G	C	G2570652C	KCNQ1	NM_181798.1(KCNQ1):c.121G>C:p.Gly41Arg	coding	Pathogenic
11	2570663	C	A	C2570663A	KCNQ1	NM_181798.1(KCNQ1):c.132C>A:p.Tyr44Ter	coding	Pathogenic
11	2570663	C	G	C2570663G	KCNQ1	NM_181798.1(KCNQ1):c.132C>G:p.Tyr44Ter	coding	Pathogenic
11	2570663	C	T	C2570663T	KCNQ1	NM_000218.3(KCNQ1):c.513C>T:p.Tyr171=	coding	Benign/Likely_benign
11	2570670	C	T	C2570670T	KCNQ1	NM_181798.1(KCNQ1):c.139C>T:p.Arg47Cys	coding	Pathogenic/Likely_pathogenic
11	2570671	G	A	G2570671A	KCNQ1	NM_181798.1(KCNQ1):c.140G>A:p.Arg47His	coding	Pathogenic/Likely_pathogenic
11	2570678	G	A	G2570678A	KCNQ1	NM_181798.1(KCNQ1):c.147G>A:p.Trp49Ter	coding	Pathogenic
11	2570682	G	A	G2570682A	KCNQ1	NM_181798.1(KCNQ1):c.151G>A:p.Ala51Thr	coding	Pathogenic/Likely_pathogenic
11	2570682	G	C	G2570682C	KCNQ1	NM_181798.1(KCNQ1):c.151G>C:p.Ala51Pro	coding	Pathogenic
11	2570701	A	C	A2570701C	KCNQ1	NM_181798.1(KCNQ1):c.170A>C:p.Tyr57Ser	coding	Pathogenic
11	2570702	C	T	C2570702T	KCNQ1	NM_181798.1(KCNQ1):c.171C>T:p.Tyr57=	coding	Benign
11	2570707	G	T	G2570707T	KCNQ1	NM_181798.1(KCNQ1):c.176G>T:p.Gly59Val	coding	Pathogenic
11	2570710	T	C	T2570710C	KCNQ1	NM_181798.1(KCNQ1):c.179T>C:p.Leu60Pro	coding	Pathogenic/Likely_pathogenic
11	2570714	G	A	G2570714A	KCNQ1	NM_181798.1(KCNQ1):c.183G>A:p.Trp61Ter	coding	Pathogenic
11	2570715	G	A	G2570715A	KCNQ1	NM_181798.1(KCNQ1):c.184G>A:p.Gly62Arg	coding	Pathogenic
11	2570717	G	T	G2570717T	KCNQ1	NM_000218.3(KCNQ1):c.567G>T:p.Gly189=	coding	Benign/Likely_benign
11	2570719	G	A	G2570719A	KCNQ1	NM_181798.1(KCNQ1):c.188G>A:p.Arg63Gln	coding	Pathogenic
11	2570719	G	T	G2570719T	KCNQ1	NM_181798.1(KCNQ1):c.188G>T:p.Arg63Leu	coding	Pathogenic/Likely_pathogenic
11	2570742	A	G	A2570742G	KCNQ1	NM_181798.1(KCNQ1):c.211A>G:p.Ile71Val	coding	Pathogenic
11	2570754	G	A	G2570754A	KCNQ1	NM_181798.1(KCNQ1):c.223G>A:p.Asp75Asn	coding	Pathogenic
11	2570756	T	C	T2570756C	KCNQ1	NM_000218.3(KCNQ1):c.604+2T>C	noncoding	Pathogenic
11	2570974	A	C	A2570974C	KCNQ1	NM_181798.1(KCNQ1):c.223+220A>C	noncoding	Benign
11	2571143	T	G	T2571143G	KCNQ1	NM_181798.1(KCNQ1):c.224-182T>G	noncoding	Benign
11	2571301	C	T	C2571301T	KCNQ1	NM_181798.1(KCNQ1):c.224-24C>T	noncoding	Benign
11	2571314	G	A	G2571314A	KCNQ1	NM_000218.3(KCNQ1):c.605-11G>A	noncoding	Benign/Likely_benign
11	2571325	A	G	A2571325G	KCNQ1	NM_181798.1(KCNQ1):c.224A>G:p.Asp75Gly	coding	Pathogenic
11	2571333	G	A	G2571333A	KCNQ1	NM_000218.3(KCNQ1):c.613G>A:p.Val205Met	coding	Pathogenic
11	2571345	T	C	T2571345C	KCNQ1	NM_181798.1(KCNQ1):c.244T>C:p.Ser82Pro	coding	Pathogenic
11	2571394	C	T	C2571394T	KCNQ1	NM_000218.3(KCNQ1):c.674C>T:p.Ser225Leu	coding	Pathogenic/Likely_pathogenic
11	2571395	G	A	G2571395A	KCNQ1	NM_000218.3(KCNQ1):c.675G>A:p.Ser225=	coding	Benign/Likely_benign
11	2571423	T	C	T2571423C	KCNQ1	NM_181798.1(KCNQ1):c.302+20T>C	noncoding	Benign
11	2571779	C	T	C2571779T	KCNQ1	NM_181798.1(KCNQ1):c.303-234C>T	noncoding	Benign
11	2572015	G	A	G2572015A	KCNQ1	NM_181798.1(KCNQ1):c.305G>A:p.Gly102Asp	coding	Pathogenic
11	2572020	C	A	C2572020A	KCNQ1	NM_181798.1(KCNQ1):c.310C>A:p.Arg104Ser	coding	Pathogenic
11	2572020	C	T	C2572020T	KCNQ1	NM_181798.1(KCNQ1):c.310C>T:p.Arg104Cys	coding	Pathogenic/Likely_pathogenic
11	2572021	G	A	G2572021A	KCNQ1	NM_181798.1(KCNQ1):c.311G>A:p.Arg104His	coding	Pathogenic
11	2572033	T	A	T2572033A	KCNQ1	NM_181798.1(KCNQ1):c.323T>A:p.Ile108Asn	coding	Pathogenic
11	2572036	T	C	T2572036C	KCNQ1	NM_181798.1(KCNQ1):c.326T>C:p.Leu109Pro	coding	Pathogenic/Likely_pathogenic
11	2572049	C	T	C2572049T	KCNQ1	NM_000218.3(KCNQ1):c.720C>T:p.His240=	coding	Benign/Likely_benign
11	2572053	G	A	G2572053A	KCNQ1	NM_181798.1(KCNQ1):c.343G>A:p.Asp115Asn	coding	Pathogenic
11	2572056	C	T	C2572056T	KCNQ1	NM_181798.1(KCNQ1):c.346C>T:p.Arg116Cys	coding	Pathogenic
11	2572057	G	C	G2572057C	KCNQ1	NM_181798.1(KCNQ1):c.347G>C:p.Arg116Pro	coding	Pathogenic
11	2572059	C	T	C2572059T	KCNQ1	NM_181798.1(KCNQ1):c.349C>T:p.Gln117Ter	coding	Pathogenic
11	2572062	G	T	G2572062T	KCNQ1	NM_181798.1(KCNQ1):c.352G>T:p.Gly118Ter	coding	Pathogenic
11	2572072	G	A	G2572072A	KCNQ1	NM_000218.3(KCNQ1):c.743G>A:p.Trp248Ter	coding	Pathogenic
11	2572081	T	C	T2572081C	KCNQ1	NM_181798.1(KCNQ1):c.371T>C:p.Leu124Pro	coding	Pathogenic
11	2572087	C	G	C2572087G	KCNQ1	NM_181798.1(KCNQ1):c.377C>G:p.Ser126Cys	coding	Pathogenic
11	2572089	G	A	G2572089A	KCNQ1	NM_181798.1(KCNQ1):c.379G>A:p.Val127Met	coding	Pathogenic
11	2572102	A	G	A2572102G	KCNQ1	NM_181798.1(KCNQ1):c.392A>G:p.His131Arg	coding	Pathogenic
11	2572104	C	T	C2572104T	KCNQ1	NM_181798.1(KCNQ1):c.394C>T:p.Arg132Cys	coding	Pathogenic
11	2572105	G	T	G2572105T	KCNQ1	NM_181798.1(KCNQ1):c.395G>T:p.Arg132Leu	coding	Pathogenic
11	2572107	C	T	C2572107T	KCNQ1	NM_000218.3(KCNQ1):c.778C>T:p.Gln260Ter	coding	Pathogenic
11	2572846	G	T	G2572846T	KCNQ1	NM_181798.1(KCNQ1):c.400G>T:p.Glu134Ter	coding	Pathogenic
11	2572850	T	C	T2572850C	KCNQ1	NM_000218.3(KCNQ1):c.785T>C:p.Leu262Pro	coding	Pathogenic
11	2572859	C	T	C2572859T	KCNQ1	NM_181798.1(KCNQ1):c.413C>T:p.Thr138Ile	coding	Pathogenic
11	2572862	T	C	T2572862C	KCNQ1	NM_181798.1(KCNQ1):c.416T>C:p.Leu139Pro	coding	Pathogenic
11	2572870	G	A	G2572870A	KCNQ1	NM_181798.1(KCNQ1):c.424G>A:p.Gly142Ser	coding	Pathogenic
11	2572870	G	C	G2572870C	KCNQ1	NM_181798.1(KCNQ1):c.424G>C:p.Gly142Arg	coding	Pathogenic
11	2572871	G	A	G2572871A	KCNQ1	NM_181798.1(KCNQ1):c.425G>A:p.Gly142Asp	coding	Pathogenic
11	2572871	G	T	G2572871T	KCNQ1	NM_181798.1(KCNQ1):c.425G>T:p.Gly142Val	coding	Pathogenic
11	2572880	G	A	G2572880A	KCNQ1	NM_181798.1(KCNQ1):c.434G>A:p.Gly145Asp	coding	Pathogenic
11	2572882	C	T	C2572882T	KCNQ1	NM_181798.1(KCNQ1):c.436C>T:p.Leu146Phe	coding	Pathogenic
11	2572895	C	G	C2572895G	KCNQ1	NM_181798.1(KCNQ1):c.449C>G:p.Ser150Trp	coding	Pathogenic/Likely_pathogenic
11	2572895	C	T	C2572895T	KCNQ1	NM_181798.1(KCNQ1):c.449C>T:p.Ser150Leu	coding	Pathogenic
11	2572899	C	G	C2572899G	KCNQ1	NM_181798.1(KCNQ1):c.453C>G:p.Tyr151Ter	coding	Pathogenic
11	2572900	T	A	T2572900A	KCNQ1	NM_181798.1(KCNQ1):c.454T>A:p.Phe152Ile	coding	Pathogenic
11	2572908	C	A	C2572908A	KCNQ1	NM_181798.1(KCNQ1):c.462C>A:p.Tyr154Ter	coding	Pathogenic
11	2572979	G	A	G2572979A	KCNQ1	NM_181798.1(KCNQ1):c.533G>A:p.Trp178Ter	coding	Pathogenic
11	2572979	G	C	G2572979C	KCNQ1	NM_181798.1(KCNQ1):c.533G>C:p.Trp178Ser	coding	Pathogenic/Likely_pathogenic
11	2572979	G	T	G2572979T	KCNQ1	NM_181798.1(KCNQ1):c.533G>T:p.Trp178Leu	coding	Pathogenic
11	2572981	G	A	G2572981A	KCNQ1	NM_181798.1(KCNQ1):c.535G>A:p.Gly179Arg	coding	Pathogenic
11	2572984	G	C	G2572984C	KCNQ1	NM_181798.1(KCNQ1):c.538G>C:p.Val180Leu	coding	Pathogenic
11	2572987	G	T	G2572987T	KCNQ1	NM_181798.1(KCNQ1):c.540+1G>T	coding	Pathogenic
11	2572993	C	T	C2572993T	KCNQ1	NM_181798.1(KCNQ1):c.540+7C>T	noncoding	Benign/Likely_benign
11	2583207	A	G	A2583207G	KCNQ1	NM_181798.1(KCNQ1):c.541-228A>G	noncoding	Benign
11	2583434	G	A	G2583434A	KCNQ1	NM_181798.1(KCNQ1):c.541-1G>A	noncoding	Pathogenic
11	2583434	G	C	G2583434C	KCNQ1	NM_181798.1(KCNQ1):c.541-1G>C	noncoding	Pathogenic
11	2583448	C	T	C2583448T	KCNQ1	NM_181798.1(KCNQ1):c.554C>T:p.Thr185Ile	coding	Pathogenic/Likely_pathogenic
11	2583453	G	A	G2583453A	KCNQ1	NM_181798.1(KCNQ1):c.559G>A:p.Gly187Ser	coding	Pathogenic
11	2583453	G	C	G2583453C	KCNQ1	NM_181798.1(KCNQ1):c.559G>C:p.Gly187Arg	coding	Pathogenic
11	2583456	T	C	T2583456C	KCNQ1	NM_181798.1(KCNQ1):c.562T>C:p.Tyr188His	coding	Pathogenic
11	2583457	A	G	A2583457G	KCNQ1	NM_181798.1(KCNQ1):c.563A>G:p.Tyr188Cys	coding	Pathogenic/Likely_pathogenic
11	2583459	G	A	G2583459A	KCNQ1	NM_181798.1(KCNQ1):c.565G>A:p.Gly189Arg	coding	Pathogenic
11	2583459	G	T	G2583459T	KCNQ1	NM_181798.1(KCNQ1):c.565G>T:p.Gly189Trp	coding	Pathogenic
11	2583462	G	A	G2583462A	KCNQ1	NM_181798.1(KCNQ1):c.568G>A:p.Asp190Asn	coding	Pathogenic
11	2583463	A	G	A2583463G	KCNQ1	NM_181798.1(KCNQ1):c.569A>G:p.Asp190Gly	coding	Pathogenic
11	2583467	G	C	G2583467C	KCNQ1	NM_181798.1(KCNQ1):c.573G>C:p.Lys191Asn	coding	Pathogenic
11	2583474	C	T	C2583474T	KCNQ1	NM_181798.1(KCNQ1):c.580C>T:p.Gln194Ter	coding	Pathogenic
11	2583477	A	G	A2583477G	KCNQ1	NM_181798.1(KCNQ1):c.583A>G:p.Thr195Ala	coding	Pathogenic
11	2583478	C	G	C2583478G	KCNQ1	NM_181798.1(KCNQ1):c.584C>G:p.Thr195Arg	coding	Pathogenic
11	2583478	C	T	C2583478T	KCNQ1	NM_181798.1(KCNQ1):c.584C>T:p.Thr195Met	coding	Pathogenic
11	2583482	G	A	G2583482A	KCNQ1	NM_181798.1(KCNQ1):c.588G>A:p.Trp196Ter	coding	Pathogenic
11	2583485	C	T	C2583485T	KCNQ1	NM_181798.1(KCNQ1):c.591C>T:p.Val197=	coding	Benign/Likely_benign
11	2583486	G	A	G2583486A	KCNQ1	NM_181798.1(KCNQ1):c.592G>A:p.Gly198Arg	coding	Pathogenic
11	2583486	G	C	G2583486C	KCNQ1	NM_181798.1(KCNQ1):c.592G>C:p.Gly198Arg	coding	Pathogenic
11	2583529	T	C	T2583529C	KCNQ1	NM_181798.1(KCNQ1):c.635T>C:p.Phe212Ser	coding	Pathogenic/Likely_pathogenic
11	2583535	C	A	C2583535A	KCNQ1	NM_181798.1(KCNQ1):c.641C>A:p.Ala214Glu	coding	Pathogenic
11	2583535	C	G	C2583535G	KCNQ1	NM_181798.1(KCNQ1):c.641C>G:p.Ala214Gly	coding	Pathogenic
11	2583535	C	T	C2583535T	KCNQ1	NM_181798.1(KCNQ1):c.641C>T:p.Ala214Val	coding	Pathogenic
11	2583537	C	T	C2583537T	KCNQ1	NM_181798.1(KCNQ1):c.643C>T:p.Leu215Phe	coding	Pathogenic/Likely_pathogenic
11	2583544	C	A	C2583544A	KCNQ1	NM_181798.1(KCNQ1):c.650C>A:p.Ala217Glu	coding	Pathogenic/Likely_pathogenic
11	2583544	C	T	C2583544T	KCNQ1	NM_181798.1(KCNQ1):c.650C>T:p.Ala217Val	coding	Pathogenic
11	2583545	G	A	G2583545A	KCNQ1	NM_181798.1(KCNQ1):c.651G>A:p.Ala217=	coding	Pathogenic
11	2583545	G	C	G2583545C	KCNQ1	NM_181798.1(KCNQ1):c.651G>C:p.Ala217=	coding	Pathogenic
11	2583556	C	T	C2583556T	KCNQ1	NM_000218.3(KCNQ1):c.1032+11C>T	noncoding	Benign
11	2585200	A	G	A2585200G	KCNQ1	NM_181798.1(KCNQ1):c.652-12A>G	noncoding	Benign
11	2585210	A	C	A2585210C	KCNQ1	NM_181798.1(KCNQ1):c.652-2A>C	noncoding	Pathogenic
11	2585210	A	G	A2585210G	KCNQ1	NM_181798.1(KCNQ1):c.652-2A>G	noncoding	Pathogenic
11	2585212	G	C	G2585212C	KCNQ1	NM_181798.1(KCNQ1):c.652G>C:p.Gly218Arg	coding	Pathogenic
11	2585213	G	A	G2585213A	KCNQ1	NM_181798.1(KCNQ1):c.653G>A:p.Gly218Glu	coding	Pathogenic
11	2585225	C	A	C2585225A	KCNQ1	NM_181798.1(KCNQ1):c.665C>A:p.Ser222Ter	coding	Pathogenic
11	2585225	C	G	C2585225G	KCNQ1	NM_181798.1(KCNQ1):c.665C>G:p.Ser222Trp	coding	Pathogenic
11	2585230	T	C	T2585230C	KCNQ1	NM_181798.1(KCNQ1):c.670T>C:p.Phe224Leu	coding	Pathogenic
11	2585237	T	C	T2585237C	KCNQ1	NM_181798.1(KCNQ1):c.677T>C:p.Leu226Pro	coding	Pathogenic
11	2585245	C	T	C2585245T	KCNQ1	NM_181798.1(KCNQ1):c.685C>T:p.Gln229Ter	coding	Pathogenic
11	2585248	C	T	C2585248T	KCNQ1	NM_000218.3(KCNQ1):c.1069C>T:p.Gln357Ter	coding	Pathogenic
11	2585254	C	T	C2585254T	KCNQ1	NM_181798.1(KCNQ1):c.694C>T:p.Gln232Ter	coding	Pathogenic
11	2585260	C	T	C2585260T	KCNQ1	NM_181798.1(KCNQ1):c.700C>T:p.Gln234Ter	coding	Pathogenic
11	2585266	C	A	C2585266A	KCNQ1	NM_181798.1(KCNQ1):c.706C>A:p.His236Asn	coding	Pathogenic
11	2585275	C	T	C2585275T	KCNQ1	NM_000218.3(KCNQ1):c.1096C>T:p.Arg366Trp	coding	Pathogenic/Likely_pathogenic
11	2585276	G	A	G2585276A	KCNQ1	NM_181798.1(KCNQ1):c.716G>A:p.Arg239Gln	coding	Pathogenic
11	2585289	G	A	G2585289A	KCNQ1	NM_000218.3(KCNQ1):c.1110G>A:p.Ala370=	coding	Benign/Likely_benign
11	2585305	C	T	C2585305T	KCNQ1	NM_181798.1(KCNQ1):c.745C>T:p.Gln249Ter	coding	Pathogenic
11	2587581	G	T	G2587581T	KCNQ1	NM_181798.1(KCNQ1):c.759G>T:p.Arg253Ser	coding	Pathogenic
11	2587616	G	A	G2587616A	KCNQ1	NM_181798.1(KCNQ1):c.794G>A:p.Trp265Ter	coding	Pathogenic
11	2587617	G	A	G2587617A	KCNQ1	NM_181798.1(KCNQ1):c.795G>A:p.Trp265Ter	coding	Pathogenic/Likely_pathogenic
11	2587663	C	G	C2587663G	KCNQ1	NM_000218.3(KCNQ1):c.1222C>G:p.Pro408Ala	coding	Benign/Likely_benign
11	2587693	G	A	G2587693A	KCNQ1	NM_000218.3(KCNQ1):c.1251+1G>A	coding	Pathogenic
11	2587940	G	A	G2587940A	KCNQ1	NM_181798.1(KCNQ1):c.870+248G>A	noncoding	Benign
11	2588412	T	C	T2588412C	KCNQ1	NM_181798.1(KCNQ1):c.871-301T>C	noncoding	Benign
11	2588653	G	A	G2588653A	KCNQ1	NM_181798.1(KCNQ1):c.871-60G>A	noncoding	Benign
11	2588793	G	A	G2588793A	KCNQ1	NM_181798.1(KCNQ1):c.951G>A:p.Thr317=	coding	Benign/Likely_benign
11	2588804	C	G	C2588804G	KCNQ1	NM_000218.3(KCNQ1):c.1343C>G:p.Pro448Arg	coding	Benign/Likely_benign
11	2588816	G	T	G2588816T	KCNQ1	NM_181798.1(KCNQ1):c.974G>T:p.Arg325Leu	coding	Pathogenic
11	2588844	T	A	T2588844A	KCNQ1	NM_181798.1(KCNQ1):c.1002T>A:p.Tyr334Ter	coding	Pathogenic
11	2661947	C	T	C2661947T	KCNQ1	NM_000218.3(KCNQ1):c.1394-14C>T	coding	Benign/Likely_benign
11	2661960	G	T	G2661960T	KCNQ1	NM_181798.1(KCNQ1):c.1013-1G>T	coding	Pathogenic/Likely_pathogenic
11	2661998	C	T	C2661998T	KCNQ1	NM_181798.1(KCNQ1):c.1050C>T:p.Pro350=	coding	Benign/Likely_benign
11	2662022	C	T	C2662022T	KCNQ1	NM_000218.3(KCNQ1):c.1455C>T:p.Phe485=	coding	Benign/Likely_benign
11	2662080	C	T	C2662080T	KCNQ1	NM_000218.3(KCNQ1):c.1513C>T:p.Gln505Ter	coding	Pathogenic/Likely_pathogenic
11	2662082	G	A	G2662082A	KCNQ1	NM_181798.1(KCNQ1):c.1133+1G>A	coding	Pathogenic
11	2662088	G	T	G2662088T	KCNQ1	NM_000218.3(KCNQ1):c.1514+7G>T	coding	Benign/Likely_benign
11	2662099	C	T	C2662099T	KCNQ1	NM_181798.1(KCNQ1):c.1133+18C>T	coding	Benign
11	2662237	C	G	C2662237G	KCNQ1	NM_181798.1(KCNQ1):c.1133+156C>G	coding	Benign
11	2768626	A	G	A2768626G	KCNQ1	NM_181798.1(KCNQ1):c.1134-218A>G	noncoding	Benign
11	2768813	C	G	C2768813G	KCNQ1	NM_181798.1(KCNQ1):c.1134-31C>G	noncoding	Benign
11	2768842	A	G	A2768842G	KCNQ1	NM_181798.1(KCNQ1):c.1134-2A>G	noncoding	Pathogenic
11	2768851	G	T	G2768851T	KCNQ1	NM_181798.1(KCNQ1):c.1141G>T:p.Glu381Ter	coding	Pathogenic/Likely_pathogenic
11	2768888	T	G	T2768888G	KCNQ1	NM_181798.1(KCNQ1):c.1178T>G:p.Met393Arg	coding	Pathogenic/Likely_pathogenic
11	2768894	A	C	A2768894C	KCNQ1	NM_181798.1(KCNQ1):c.1184A>C:p.Tyr395Ser	coding	Pathogenic
11	2768902	G	A	G2768902A	KCNQ1	NM_181798.1(KCNQ1):c.1192G>A:p.Ala398Thr	coding	Pathogenic/Likely_pathogenic
11	2768917	C	T	C2768917T	KCNQ1	NM_181798.1(KCNQ1):c.1207C>T:p.Gln403Ter	coding	Pathogenic
11	2768933	T	C	T2768933C	KCNQ1	NM_000218.3(KCNQ1):c.1590+14T>C	noncoding	Benign/Likely_benign
11	2775960	C	T	C2775960T	KCNQ1	NM_000218.3(KCNQ1):c.1591C>T:p.Gln531Ter	coding	Pathogenic
11	2775977	C	A	C2775977A	KCNQ1	NM_181798.1(KCNQ1):c.1227C>A:p.Tyr409Ter	coding	Pathogenic
11	2775977	C	T	C2775977T	KCNQ1	NM_181798.1(KCNQ1):c.1227C>T:p.Tyr409=	coding	Benign/Likely_benign
11	2775984	C	T	C2775984T	KCNQ1	NM_181798.1(KCNQ1):c.1234C>T:p.Arg412Trp	coding	Pathogenic
11	2776006	C	T	C2776006T	KCNQ1	NM_181798.1(KCNQ1):c.1256C>T:p.Ser419Leu	coding	Pathogenic/Likely_pathogenic
11	2776007	G	A	G2776007A	KCNQ1	NM_000218.3(KCNQ1):c.1638G>A:p.Ser546=	coding	Benign
11	2776029	G	A	G2776029A	KCNQ1	NM_181798.1(KCNQ1):c.1279G>A:p.Val427Met	coding	Pathogenic
11	2776032	C	T	C2776032T	KCNQ1	NM_181798.1(KCNQ1):c.1282C>T:p.Arg428Cys	coding	Pathogenic
11	2776033	G	A	G2776033A	KCNQ1	NM_181798.1(KCNQ1):c.1283G>A:p.Arg428His	coding	Pathogenic/Likely_pathogenic
11	2776038	A	G	A2776038G	KCNQ1	NM_181798.1(KCNQ1):c.1288A>G:p.Lys430Glu	coding	Pathogenic/Likely_pathogenic
11	2776055	G	A	G2776055A	KCNQ1	NM_181798.1(KCNQ1):c.1304+1G>A	coding	Pathogenic/Likely_pathogenic
11	2776056	T	C	T2776056C	KCNQ1	NM_181798.1(KCNQ1):c.1304+2T>C	noncoding	Pathogenic
11	2776336	C	T	C2776336T	KCNQ1	NM_181798.1(KCNQ1):c.1304+282C>T	noncoding	Benign
11	2776937	C	T	C2776937T	KCNQ1	NM_181798.1(KCNQ1):c.1305-49C>T	noncoding	Benign
11	2776984	A	G	A2776984G	KCNQ1	NM_181798.1(KCNQ1):c.1305-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	2776986	G	T	G2776986T	KCNQ1	NM_181798.1(KCNQ1):c.1305G>T:p.Arg435Ser	coding	Pathogenic
11	2777000	T	C	T2777000C	KCNQ1	NM_181798.1(KCNQ1):c.1319T>C:p.Ile440Thr	coding	Pathogenic/Likely_pathogenic
11	2777002	G	A	G2777002A	KCNQ1	NM_181798.1(KCNQ1):c.1321G>A:p.Gly441Arg	coding	Pathogenic
11	2777003	G	C	G2777003C	KCNQ1	NM_181798.1(KCNQ1):c.1322G>C:p.Gly441Ala	coding	Pathogenic
11	2777218	A	G	A2777218G	KCNQ1	NM_181798.1(KCNQ1):c.1351+186A>G	noncoding	Benign
11	2777975	G	C	G2777975C	KCNQ1	NM_181798.1(KCNQ1):c.1352-1G>C	noncoding	Pathogenic
11	2777989	T	C	T2777989C	KCNQ1	NM_000218.3(KCNQ1):c.1746T>C:p.Asp582=	coding	Benign/Likely_benign
11	2777990	C	T	C2777990T	KCNQ1	NM_181798.1(KCNQ1):c.1366C>T:p.Arg456Cys	coding	Pathogenic/Likely_pathogenic
11	2777992	C	T	C2777992T	KCNQ1	NM_181798.1(KCNQ1):c.1368C>T:p.Arg456=	coding	Benign/Likely_benign
11	2778003	C	T	C2778003T	KCNQ1	NM_181798.1(KCNQ1):c.1379C>T:p.Thr460Met	coding	Pathogenic
11	2778005	A	T	A2778005T	KCNQ1	NM_181798.1(KCNQ1):c.1381A>T:p.Ile461Phe	coding	Pathogenic/Likely_pathogenic
11	2778009	G	A	G2778009A	KCNQ1	NM_181798.1(KCNQ1):c.1385G>A:p.Gly462Asp	coding	Pathogenic
11	2778015	G	A	G2778015A	KCNQ1	NM_181798.1(KCNQ1):c.1391G>A:p.Arg464His	coding	Pathogenic
11	2778015	G	T	G2778015T	KCNQ1	NM_181798.1(KCNQ1):c.1391G>T:p.Arg464Leu	coding	Pathogenic
11	2778023	C	T	C2778023T	KCNQ1	NM_181798.1(KCNQ1):c.1399C>T:p.Arg467Ter	coding	Pathogenic
11	2778024	G	A	G2778024A	KCNQ1	NM_000218.3(KCNQ1):c.1781G>A:p.Arg594Gln	coding	Pathogenic/Likely_pathogenic
11	2778030	A	G	A2778030G	KCNQ1	NM_181798.1(KCNQ1):c.1406A>G:p.Glu469Gly	coding	Pathogenic
11	2778053	G	A	G2778053A	KCNQ1	NM_000218.3(KCNQ1):c.1794+16G>A	noncoding	Benign
11	2778282	T	C	T2778282C	KCNQ1	NM_181798.1(KCNQ1):c.1413+245T>C	noncoding	Benign
11	2847469	A	G	A2847469G	KCNQ1	NM_181798.1(KCNQ1):c.1414-298A>G	noncoding	Benign
11	2847648	T	C	T2847648C	KCNQ1	NM_181798.1(KCNQ1):c.1414-119T>C	noncoding	Benign
11	2847773	C	T	C2847773T	KCNQ1	NM_181798.1(KCNQ1):c.1420C>T:p.Gln474Ter	coding	Pathogenic
11	2847832	C	T	C2847832T	KCNQ1	NM_000218.3(KCNQ1):c.1860C>T:p.His620=	coding	Benign/Likely_benign
11	2847898	C	T	C2847898T	KCNQ1	NM_181798.1(KCNQ1):c.1545C>T:p.Cys515=	coding	Benign/Likely_benign
11	2847899	G	A	G2847899A	KCNQ1	NM_000218.3(KCNQ1):c.1927G>A:p.Gly643Ser	coding	Benign/Likely_benign
11	2847914	G	A	G2847914A	KCNQ1	NM_000218.3(KCNQ1):c.1942G>A:p.Val648Ile	coding	Benign/Likely_benign
11	2847958	C	T	C2847958T	KCNQ1	NM_000218.3(KCNQ1):c.1986C>T:p.Tyr662=	coding	Benign
11	2848222	G	A	G2848222A	KCNQ1	NM_181798.1(KCNQ1):c.*219G>A	noncoding	Benign/Likely_benign
11	2848267	T	C	T2848267C	KCNQ1	NM_181798.1(KCNQ1):c.*264T>C	noncoding	Benign/Likely_benign
11	2848308	A	C	A2848308C	KCNQ1	NM_181798.1(KCNQ1):c.*305A>C	noncoding	Benign/Likely_benign
11	2848353	G	A	G2848353A	KCNQ1	NM_181798.1(KCNQ1):c.*350G>A	noncoding	Benign/Likely_benign
11	2848414	C	T	C2848414T	KCNQ1	NM_181798.1(KCNQ1):c.*411C>T	noncoding	Benign/Likely_benign
11	2848467	G	A	G2848467A	KCNQ1	NM_181798.1(KCNQ1):c.*464G>A	noncoding	Benign/Likely_benign
11	2848482	G	A	G2848482A	KCNQ1	NM_181798.1(KCNQ1):c.*479G>A	noncoding	Benign
11	2848485	G	A	G2848485A	KCNQ1	NM_181798.1(KCNQ1):c.*482G>A	noncoding	Benign/Likely_benign
11	2848635	C	T	C2848635T	KCNQ1	NM_000218.3(KCNQ1):c.*632C>T	noncoding	Benign/Likely_benign
11	2848734	G	A	G2848734A	KCNQ1	NM_181798.1(KCNQ1):c.*731G>A	noncoding	Benign/Likely_benign
11	2848745	G	A	G2848745A	KCNQ1	NM_181798.1(KCNQ1):c.*742G>A	noncoding	Benign/Likely_benign
11	2848809	C	T	C2848809T	KCNQ1	NM_181798.1(KCNQ1):c.*806C>T	noncoding	Benign/Likely_benign
11	2848878	A	G	A2848878G	KCNQ1	NM_181798.1(KCNQ1):c.*875A>G	noncoding	Benign
11	2848935	A	G	A2848935G	KCNQ1	NM_181798.1(KCNQ1):c.*932A>G	noncoding	Benign
11	2883997	A	G	A2883997G	CDKN1C	NM_001122630.2(CDKN1C):c.*5+2T>C	noncoding	Pathogenic
11	2884110	G	T	G2884110T	CDKN1C	NM_001122630.2(CDKN1C):c.812C>A:p.Ser271Ter	coding	Pathogenic
11	2884113	C	A	C2884113A	CDKN1C	NM_001122630.2(CDKN1C):c.809G>T:p.Arg270Ile	coding	Pathogenic
11	2884119	C	A	C2884119A	CDKN1C	NM_001122630.2(CDKN1C):c.803G>T:p.Arg268Leu	coding	Pathogenic
11	2884119	C	G	C2884119G	CDKN1C	NM_001122630.2(CDKN1C):c.803G>C:p.Arg268Pro	coding	Pathogenic
11	2884123	T	C	T2884123C	CDKN1C	NM_001122630.2(CDKN1C):c.799A>G:p.Lys267Glu	coding	Pathogenic
11	2884128	A	G	A2884128G	CDKN1C	NM_001122630.2(CDKN1C):c.794T>C:p.Phe265Ser	coding	Pathogenic
11	2884129	A	C	A2884129C	CDKN1C	NM_001122630.2(CDKN1C):c.793T>G:p.Phe265Val	coding	Pathogenic
11	2884670	C	T	C2884670T	CDKN1C	NM_001122630.2(CDKN1C):c.787G>A:p.Asp263Asn	coding	Pathogenic
11	2884675	A	C	A2884675C	CDKN1C	NM_001122630.2(CDKN1C):c.782T>G:p.Ile261Ser	coding	Pathogenic
11	2884750	G	T	G2884750T	CDKN1C	NM_001122630.2(CDKN1C):c.707C>A:p.Ser236Ter	coding	Pathogenic
11	2884755	C	T	C2884755T	CDKN1C	NM_001122630.2(CDKN1C):c.702G>A:p.Gly234=	coding	Benign
11	2884782	C	T	C2884782T	CDKN1C	NM_001122630.2(CDKN1C):c.675G>A:p.Glu225=	coding	Benign/Likely_benign
11	2884784	C	A	C2884784A	CDKN1C	NM_001122630.2(CDKN1C):c.673G>T:p.Glu225Ter	coding	Pathogenic
11	2884796	G	A	G2884796A	CDKN1C	NM_001122630.2(CDKN1C):c.661C>T:p.Gln221Ter	coding	Pathogenic
11	2884802	G	A	G2884802A	CDKN1C	NM_001122630.2(CDKN1C):c.655C>T:p.Gln219Ter	coding	Pathogenic
11	2884817	C	A	C2884817A	CDKN1C	NM_001122630.2(CDKN1C):c.640G>T:p.Glu214Ter	coding	Pathogenic
11	2884821	G	A	G2884821A	CDKN1C	NM_001122630.2(CDKN1C):c.636C>T:p.Ser212=	coding	Benign/Likely_benign
11	2884890	T	C	T2884890C	CDKN1C	NM_001122630.2(CDKN1C):c.567A>G:p.Pro189=	coding	Benign
11	2884935	A	G	A2884935G	CDKN1C	NM_001122630.2(CDKN1C):c.522T>C:p.Ala174=	coding	Benign/Likely_benign
11	2884962	C	G	C2884962G	CDKN1C	NM_001122630.2(CDKN1C):c.495G>C:p.Ala165=	coding	Benign/Likely_benign
11	2885102	C	A	C2885102A	CDKN1C	NM_001122630.2(CDKN1C):c.355G>T:p.Glu119Ter	coding	Pathogenic
11	2885137	G	A	G2885137A	CDKN1C	NM_001122630.2(CDKN1C):c.320C>T:p.Pro107Leu	coding	Benign/Likely_benign
11	2885166	G	A	G2885166A	CDKN1C	NM_001122630.2(CDKN1C):c.291C>T:p.Pro97=	coding	Benign
11	2885351	G	A	G2885351A	CDKN1C	NM_001122630.2(CDKN1C):c.106C>T:p.Gln36Ter	coding	Pathogenic
11	2885358	G	A	G2885358A	CDKN1C	NM_001122630.2(CDKN1C):c.99C>T:p.Arg33=	coding	Benign
11	2885365	A	G	A2885365G	CDKN1C	NM_001122630.2(CDKN1C):c.92T>C:p.Leu31Pro	coding	Pathogenic
11	2885372	C	A	C2885372A	CDKN1C	NM_001122630.2(CDKN1C):c.85G>T:p.Glu29Ter	coding	Pathogenic
11	2885418	T	C	T2885418C	CDKN1C	NM_001122630.2(CDKN1C):c.39A>G:p.Leu13=	coding	Benign
11	2885573	C	T	C2885573T	CDKN1C	NM_000076.2(CDKN1C):c.-84G>A	noncoding	Benign/Likely_benign
11	2885574	C	T	C2885574T	CDKN1C	NM_001122630.2(CDKN1C):c.-11+60G>A	noncoding	Benign
11	2902596	A	G	A2902596G	SLC22A18	NM_002555.6(SLC22A18):c.-133+232A>G	coding	Benign
11	2903410	G	A	G2903410A	SLC22A18	NM_002555.6(SLC22A18):c.65G>A:p.Arg22Gln	coding	Benign
11	2909210	G	A	G2909210A	SLC22A18	NM_002555.6(SLC22A18):c.257G>A:p.Arg86His	coding	Pathogenic
11	2918030	C	T	C2918030T	SLC22A18	NM_002555.6(SLC22A18):c.698C>T:p.Ser233Phe	coding	Pathogenic
11	2922541	T	C	T2922541C	SLC22A18	NM_002555.6(SLC22A18):c.1072T>C:p.Ser358Pro	coding	Benign
11	2925116	C	T	C2925116T	SLC22A18	NM_002555.6(SLC22A18):c.1194C>T:p.His398=	coding	Benign
11	2925117	G	T	G2925117T	SLC22A18	NM_002555.6(SLC22A18):c.1195G>T:p.Val399Leu	coding	Benign
11	2925176	G	A	G2925176A	SLC22A18	NM_002555.6(SLC22A18):c.1254G>A:p.Gln418=	coding	Benign
11	2971517	G	A	G2971517A	NAP1L4	NM_005969.4(NAP1L4):c.333C>T:p.Thr111=	coding	Benign
11	3017133	G	T	G3017133T	CARS1	NM_001014437.3(CARS1):c.1890C>A:p.Ile630=	coding	Benign
11	3017136	G	A	G3017136A	CARS1	NM_001014437.3(CARS1):c.1887C>T:p.Asn629=	coding	Benign
11	3017921	C	T	C3017921T	CARS1	NM_001014437.3(CARS1):c.1663G>A:p.Ala555Thr	coding	Benign
11	3018636	G	A	G3018636A	CARS1	NM_001014437.3(CARS1):c.1509C>T:p.Ala503=	coding	Benign
11	3018697	A	T	A3018697T	CARS1	NM_001014437.3(CARS1):c.1448T>A:p.Leu483Gln	coding	Pathogenic
11	3019147	G	A	G3019147A	CARS1	NM_001014437.3(CARS1):c.1387C>T:p.Gln463Ter	coding	Pathogenic
11	3019209	G	A	G3019209A	CARS1	NM_001014437.3(CARS1):c.1325C>T:p.Ser442Leu	coding	Pathogenic
11	3019263	C	T	C3019263T	CARS1	NM_001014437.3(CARS1):c.1271G>A:p.Arg424His	coding	Pathogenic
11	3029003	C	T	C3029003T	CARS1	NM_001014437.3(CARS1):c.1024G>A:p.Gly342Ser	coding	Benign
11	3029392	G	A	G3029392A	CARS1	NM_001014437.3(CARS1):c.853C>T:p.Leu285Phe	coding	Benign
11	3029397	G	C	G3029397C	CARS1	NM_001014437.3(CARS1):c.848C>G:p.Ser283Cys	coding	Benign
11	3038130	C	A	C3038130A	CARS1	NM_001014437.3(CARS1):c.721G>T:p.Ala241Ser	coding	Benign
11	3038164	G	A	G3038164A	CARS1	NM_001014437.3(CARS1):c.687C>T:p.Pro229=	coding	Benign
11	3039191	C	T	C3039191T	CARS1	NM_001014437.3(CARS1):c.651+3G>A	noncoding	Benign
11	3039260	G	A	G3039260A	CARS1	NM_001014437.3(CARS1):c.585C>T:p.Phe195=	coding	Benign
11	3042264	G	A	G3042264A	CARS1	NM_001014437.3(CARS1):c.275-8C>T	noncoding	Benign
11	3092466	G	A	G3092466A	OSBPL5	NM_020896.4(OSBPL5):c.2225C>T:p.Thr742Ile	coding	Benign
11	3101594	C	T	C3101594T	OSBPL5	NM_020896.4(OSBPL5):c.1522+9G>A	noncoding	Benign
11	3101682	G	A	G3101682A	OSBPL5	NM_020896.4(OSBPL5):c.1443C>T:p.Pro481=	coding	Benign
11	3102219	C	T	C3102219T	OSBPL5	NM_020896.4(OSBPL5):c.1389G>A:p.Pro463=	coding	Benign
11	3103326	A	G	A3103326G	OSBPL5	NM_020896.4(OSBPL5):c.1245-6T>C	noncoding	Benign
11	3107256	C	G	C3107256G	OSBPL5	NM_020896.4(OSBPL5):c.1059+7G>C	noncoding	Benign
11	3107309	C	G	C3107309G	OSBPL5	NM_020896.4(OSBPL5):c.1013G>C:p.Arg338Pro	coding	Benign
11	3107459	G	T	G3107459T	OSBPL5	NM_020896.4(OSBPL5):c.867-4C>A	noncoding	Benign
11	3122435	G	A	G3122435A	OSBPL5	NM_020896.4(OSBPL5):c.220-7C>T	noncoding	Benign
11	3126531	G	A	G3126531A	OSBPL5	NM_020896.4(OSBPL5):c.161C>T:p.Pro54Leu	coding	Benign
11	3639012	A	T	A3639012T	ART5	NM_053017.5(ART5):c.811T>A:p.Ser271Thr	coding	Benign
11	3639963	C	T	C3639963T	ART5	NM_053017.5(ART5):c.466G>A:p.Glu156Lys	coding	Benign
11	3659648	G	A	G3659648A	ART1	NM_004314.3(ART1):c.129G>A:p.Leu43=	coding	Benign
11	3659939	C	T	C3659939T	ART1	NM_004314.3(ART1):c.420C>T:p.Arg140=	coding	Benign
11	3676333	A	G	A3676333G	NUP98	NM_016320.5(NUP98):c.5229T>C:p.Ser1743=	coding	Benign
11	3676364	C	T	C3676364T	NUP98	NM_016320.5(NUP98):c.5198G>A:p.Arg1733His	coding	Benign
11	3683214	C	T	C3683214T	NUP98	NM_016320.5(NUP98):c.4904G>A:p.Arg1635Gln	coding	Benign
11	3705217	G	A	G3705217A	NUP98	NM_016320.5(NUP98):c.3065C>T:p.Ser1022Leu	coding	Benign
11	3723274	G	A	G3723274A	NUP98	NM_016320.5(NUP98):c.2029C>T:p.Arg677Cys	coding	Benign
11	3744549	C	T	C3744549T	NUP98	NM_016320.5(NUP98):c.1368G>A:p.Thr456=	coding	Benign
11	3768677	G	C	G3768677C	NUP98	NM_016320.5(NUP98):c.852C>G:p.Leu284=	coding	Benign
11	3778975	T	C	T3778975C	NUP98	NM_016320.5(NUP98):c.253A>G:p.Thr85Ala	coding	Benign
11	3811261	T	G	T3811261G	PGAP2	NM_014489.4(PGAP2):c.2T>G:p.Met1Arg	coding	Pathogenic
11	3811305	C	T	C3811305T	PGAP2	NM_014489.4(PGAP2):c.46C>T:p.Arg16Trp	coding	Pathogenic
11	3823925	G	T	G3823925T	PGAP2	NM_014489.4(PGAP2):c.391G>T:p.Glu131Ter	coding	Pathogenic
11	3824013	A	G	A3824013G	PGAP2	NM_014489.4(PGAP2):c.479A>G:p.Tyr160Cys	coding	Pathogenic
11	3824025	C	T	C3824025T	PGAP2	NM_014489.4(PGAP2):c.491C>T:p.Thr164Ile	coding	Pathogenic
11	3824097	T	C	T3824097C	PGAP2	NM_014489.4(PGAP2):c.563T>C:p.Leu188Ser	coding	Pathogenic
11	3825024	G	C	G3825024C	PGAP2	NM_014489.4(PGAP2):c.713G>C:p.Arg238Pro	coding	Pathogenic
11	3856381	G	A	G3856381A	STIM1	NM_003156.3(STIM1):c.111G>A:p.Gly37=	coding	Benign
11	3967613	A	G	A3967613G	STIM1	NM_003156.3(STIM1):c.201A>G:p.Ala67=	coding	Benign
11	3967628	C	A	C3967628A	STIM1	NM_003156.3(STIM1):c.216C>A:p.His72Gln	coding	Pathogenic
11	3967633	T	C	T3967633C	STIM1	NM_003156.3(STIM1):c.221T>C:p.Leu74Pro	coding	Pathogenic
11	3967646	T	C	T3967646C	STIM1	NM_003156.3(STIM1):c.234T>C:p.Asp78=	coding	Benign
11	3967663	A	G	A3967663G	STIM1	NM_003156.3(STIM1):c.251A>G:p.Asp84Gly	coding	Pathogenic
11	4023927	C	A	C4023927A	STIM1	NM_003156.3(STIM1):c.325C>A:p.His109Asn	coding	Pathogenic
11	4023928	A	G	A4023928G	STIM1	NM_003156.3(STIM1):c.326A>G:p.His109Arg	coding	Pathogenic
11	4023945	A	T	A4023945T	STIM1	NM_003156.3(STIM1):c.343A>T:p.Ile115Phe	coding	Pathogenic
11	4023999	C	T	C4023999T	STIM1	NM_003156.3(STIM1):c.385+12C>T	noncoding	Benign
11	4055527	A	G	A4055527G	STIM1	NM_003156.3(STIM1):c.387A>G:p.Val129=	coding	Benign
11	4059290	C	T	C4059290T	STIM1	NM_003156.3(STIM1):c.507C>T:p.Val169=	coding	Benign
11	4059380	C	A	C4059380A	STIM1	NM_003156.3(STIM1):c.597C>A:p.Leu199=	coding	Benign/Likely_benign
11	4074571	C	T	C4074571T	STIM1	NM_003156.3(STIM1):c.861C>T:p.Arg287=	coding	Benign
11	4074620	C	T	C4074620T	STIM1	NM_003156.3(STIM1):c.910C>T:p.Arg304Trp	coding	Pathogenic
11	4082183	G	A	G4082183A	STIM1	NM_003156.3(STIM1):c.970-1G>A	noncoding	Pathogenic
11	4082294	A	G	A4082294G	STIM1	NM_003156.3(STIM1):c.1080A>G:p.Gln360=	coding	Benign
11	4082873	T	C	T4082873C	STIM1	NM_003156.3(STIM1):c.1138-9T>C	noncoding	Benign
11	4082914	C	G	C4082914G	STIM1	NM_003156.3(STIM1):c.1170C>G:p.Leu390=	coding	Benign
11	4083250	C	T	C4083250T	STIM1	NM_003156.3(STIM1):c.1239-13C>T	noncoding	Benign/Likely_benign
11	4083300	C	T	C4083300T	STIM1	NM_003156.3(STIM1):c.1276C>T:p.Arg426Cys	coding	Pathogenic
11	4083326	G	A	G4083326A	STIM1	NM_003156.3(STIM1):c.1302G>A:p.Glu434=	coding	Benign/Likely_benign
11	4083329	C	T	C4083329T	STIM1	NM_003156.3(STIM1):c.1305C>T:p.Ile435=	coding	Benign
11	4083515	C	G	C4083515G	STIM1	NM_003156.3(STIM1):c.1474+17C>G	noncoding	Benign
11	4086513	C	T	C4086513T	STIM1	NM_003156.3(STIM1):c.1511C>T:p.Thr504Met	coding	Benign/Likely_benign
11	4086520	A	G	A4086520G	STIM1	NM_003156.3(STIM1):c.1518A>G:p.Pro506=	coding	Benign/Likely_benign
11	4086830	G	A	G4086830A	STIM1	NM_003156.3(STIM1):c.1541+287G>A	coding	Benign
11	4091352	C	T	C4091352T	STIM1	NM_003156.3(STIM1):c.1612C>T:p.Pro538Ser	coding	Benign
11	4091543	C	G	C4091543G	STIM1	NM_003156.3(STIM1):c.1803C>G:p.Pro601=	coding	Benign
11	4091578	C	A	C4091578A	STIM1	NM_003156.3(STIM1):c.1838C>A:p.Ser613Tyr	coding	Benign
11	4107509	T	C	T4107509C	RRM1	NM_001033.5(RRM1):c.361T>C:p.Leu121=	coding	Benign
11	4127223	C	T	C4127223T	RRM1	NM_001033.5(RRM1):c.1659C>T:p.Tyr553=	coding	Benign
11	4385627	A	G	A4385627G	TRIM21	NM_003141.4(TRIM21):c.1086T>C:p.Ser362=	coding	Benign
11	4389704	A	G	A4389704G	TRIM21	NM_003141.4(TRIM21):c.454T>C:p.Leu152=	coding	Benign
11	4594278	C	G	C4594278G	OR52I1	NM_001005169.1(OR52I1):c.240C>G:p.Ser80=	coding	Benign
11	4954915	C	G	C4954915G	OR51A2	NM_001004748.1(OR51A2):c.799G>C:p.Gly267Arg	coding	Benign
11	5225245	C	T	C5225245T	HBB	NM_000518.5(HBB):c.*132+221G>A	noncoding	Benign
11	5225282	T	G	T5225282G	HBB	NM_000518.5(HBB):c.*132+184A>C	noncoding	Benign
11	5225302	A	G	A5225302G	HBB	NC_000011.10:g.5225302A>G	noncoding	Benign
11	5225365	C	G	C5225365G	HBB	NM_000518.5(HBB):c.*132+101G>C	noncoding	Benign
11	5225416	C	T	C5225416T	HBB	NC_000011.10:g.5225416C>T	noncoding	Benign
11	5225485	T	C	T5225485C	HBB	NM_000518.5(HBB):c.*113A>G	noncoding	Pathogenic/Likely_pathogenic
11	5225486	T	C	T5225486C	HBB	NM_000518.5(HBB):c.*112A>G	noncoding	Pathogenic
11	5225487	T	C	T5225487C	HBB	NM_000518.5(HBB):c.*111A>G	noncoding	Pathogenic
11	5225488	A	G	A5225488G	HBB	NM_000518.5(HBB):c.*110T>C	noncoding	Pathogenic
11	5225488	A	T	A5225488T	HBB	NM_000518.5(HBB):c.*110T>A	noncoding	Pathogenic
11	5225490	T	C	T5225490C	HBB	NM_000518.5(HBB):c.*108A>G	noncoding	Pathogenic
11	5225566	T	G	T5225566G	HBB	NM_000518.5(HBB):c.*32A>C	noncoding	Pathogenic
11	5225592	G	C	G5225592C	HBB	NM_000518.5(HBB):c.*6C>G	noncoding	Pathogenic
11	5225606	A	T	A5225606T	HBB	NM_000518.5(HBB):c.436T>A:p.Tyr146Asn	coding	Pathogenic
11	5225607	C	G	C5225607G	HBB	NM_000518.5(HBB):c.435G>C:p.Lys145Asn	coding	Pathogenic
11	5225610	G	A	G5225610A	HBB	NM_000518.5(HBB):c.432C>T:p.His144=	coding	Benign/Likely_benign
11	5225611	T	C	T5225611C	HBB	NM_000518.5(HBB):c.431A>G:p.His144Arg	coding	Pathogenic
11	5225611	T	G	T5225611G	HBB	NM_000518.5(HBB):c.431A>C:p.His144Pro	coding	Pathogenic
11	5225612	G	A	G5225612A	HBB	NM_000518.4(HBB):c.430C>T:p.His144Tyr	coding	Benign
11	5225638	A	T	A5225638T	HBB	NM_000518.5(HBB):c.404T>A:p.Val135Glu	coding	Pathogenic
11	5225645	T	A	T5225645A	HBB	NM_000518.5(HBB):c.397A>T:p.Lys133Ter	coding	Pathogenic
11	5225648	G	A	G5225648A	HBB	NM_000518.5(HBB):c.394C>T:p.Gln132Ter	coding	Pathogenic
11	5225649	A	T	A5225649T	HBB	NM_000518.5(HBB):c.393T>A:p.Tyr131Ter	coding	Pathogenic
11	5225659	T	G	T5225659G	HBB	NM_000518.5(HBB):c.383A>C:p.Gln128Pro	coding	Pathogenic
11	5225662	A	C	A5225662C	HBB	NM_000518.5(HBB):c.380T>G:p.Val127Gly	coding	Pathogenic/Likely_pathogenic
11	5225678	C	A	C5225678A	HBB	NM_000518.5(HBB):c.364G>T:p.Glu122Ter	coding	Pathogenic
11	5225678	C	T	C5225678T	HBB	NM_000518.4(HBB):c.364G>A:p.Glu122Lys	coding	Pathogenic/Likely_pathogenic
11	5225695	G	T	G5225695T	HBB	NM_000518.5(HBB):c.347C>A:p.Ala116Asp	coding	Pathogenic
11	5225698	A	G	A5225698G	HBB	NM_000518.5(HBB):c.344T>C:p.Leu115Pro	coding	Pathogenic
11	5225701	A	T	A5225701T	HBB	NM_000518.5(HBB):c.341T>A:p.Val114Glu	coding	Pathogenic
11	5225703	A	T	A5225703T	HBB	NM_000518.5(HBB):c.339T>A:p.Cys113Ter	coding	Pathogenic
11	5225710	A	G	A5225710G	HBB	NM_000518.4(HBB):c.332T>C:p.Leu111Pro	coding	Pathogenic
11	5225714	C	T	C5225714T	HBB	NM_000518.5(HBB):c.328G>A:p.Val110Met	coding	Pathogenic/Likely_pathogenic
11	5225722	A	T	A5225722T	HBB	NM_000518.4(HBB):c.320T>A:p.Leu107Gln	coding	Pathogenic
11	5225723	G	C	G5225723C	HBB	NM_000518.5(HBB):c.319C>G:p.Leu107Val	coding	Pathogenic
11	5225727	C	A	C5225727A	HBB	NM_000518.5(HBB):c.316-1G>T	coding	Pathogenic/Likely_pathogenic
11	5225727	C	G	C5225727G	HBB	NM_000518.5(HBB):c.316-1G>C	coding	Pathogenic
11	5225727	C	T	C5225727T	HBB	NM_000518.5(HBB):c.316-1G>A	coding	Pathogenic/Likely_pathogenic
11	5225728	T	C	T5225728C	HBB	NM_000518.5(HBB):c.316-2A>G	noncoding	Pathogenic
11	5225728	T	G	T5225728G	HBB	NM_000518.5(HBB):c.316-2A>C	noncoding	Pathogenic
11	5225729	G	T	G5225729T	HBB	NM_000518.5(HBB):c.316-3C>A	noncoding	Pathogenic
11	5225733	G	T	G5225733T	HBB	NM_000518.5(HBB):c.316-7C>A	noncoding	Pathogenic/Likely_pathogenic
11	5225734	A	C	A5225734C	HBB	NM_000518.5(HBB):c.316-8T>G	noncoding	Pathogenic
11	5225740	A	C	A5225740C	HBB	NM_000518.5(HBB):c.316-14T>G	noncoding	Pathogenic
11	5225763	C	A	C5225763A	HBB	NM_000518.5(HBB):c.316-37G>T	noncoding	Benign/Likely_benign
11	5225771	C	G	C5225771G	HBB	NM_000518.5(HBB):c.316-45G>C	noncoding	Benign/Likely_benign
11	5225796	G	C	G5225796C	HBB	NM_000518.5(HBB):c.316-70C>G	noncoding	Benign/Likely_benign
11	5225808	C	T	C5225808T	HBB	NM_000518.5(HBB):c.316-82G>A	noncoding	Benign
11	5225832	G	C	G5225832C	HBB	NM_000518.5(HBB):c.316-106C>G	noncoding	Pathogenic
11	5225872	A	C	A5225872C	HBB	NM_000518.5(HBB):c.316-146T>G	noncoding	Pathogenic
11	5225911	G	A	G5225911A	HBB	NM_000518.5(HBB):c.316-185C>T	noncoding	Benign
11	5225923	G	A	G5225923A	HBB	NM_000518.5(HBB):c.316-197C>T	noncoding	Pathogenic
11	5225934	G	C	G5225934C	HBB	NM_000518.5(HBB):c.316-208C>G	noncoding	Benign
11	5225998	C	A	C5225998A	HBB	NM_000518.5(HBB):c.316-272G>T	noncoding	Benign
11	5226099	G	T	G5226099T	HBB	NM_000518.5(HBB):c.316-373C>A	noncoding	Benign
11	5226197	A	G	A5226197G	HBB	NM_000518.5(HBB):c.315+380T>C	noncoding	Benign
11	5226322	A	G	A5226322G	HBB	NM_000518.5(HBB):c.315+255T>C	noncoding	Benign
11	5226357	G	A	G5226357A	HBB	NM_000518.5(HBB):c.315+220C>T	noncoding	Benign
11	5226397	A	G	A5226397G	HBB	NM_000518.5(HBB):c.315+180T>C	noncoding	Benign
11	5226496	G	A	G5226496A	HBB	NM_000518.5(HBB):c.315+81C>T	noncoding	Benign
11	5226503	A	C	A5226503C	HBB	NM_000518.5(HBB):c.315+74T>G	noncoding	Benign
11	5226507	C	G	C5226507G	HBB	NM_000518.5(HBB):c.315+70G>C	noncoding	Benign/Likely_benign
11	5226551	A	C	A5226551C	HBB	NM_000518.5(HBB):c.315+26T>G	noncoding	Benign
11	5226561	C	G	C5226561G	HBB	NM_000518.5(HBB):c.315+16G>C	noncoding	Benign/Likely_benign
11	5226572	C	G	C5226572G	HBB	NM_000518.5(HBB):c.315+5G>C	noncoding	Pathogenic
11	5226575	A	G	A5226575G	HBB	NM_000518.5(HBB):c.315+2T>C	noncoding	Pathogenic
11	5226576	C	A	C5226576A	HBB	NM_000518.5(HBB):c.315+1G>T	noncoding	Pathogenic
11	5226576	C	T	C5226576T	HBB	NM_000518.5(HBB):c.315+1G>A	noncoding	Pathogenic
11	5226584	T	G	T5226584G	HBB	NM_000518.4(HBB):c.308A>C:p.Asn103Thr	coding	Benign
11	5226592	A	T	A5226592T	HBB	NM_000518.5(HBB):c.300T>A:p.Asp100Glu	coding	Pathogenic
11	5226597	C	T	C5226597T	HBB	NM_000518.5(HBB):c.295G>A:p.Val99Met	coding	Pathogenic
11	5226598	G	C	G5226598C	HBB	NM_000518.5(HBB):c.294C>G:p.His98Gln	coding	Pathogenic
11	5226613	G	T	G5226613T	HBB;LOC106099062;LOC107133510	NM_000518.5(HBB):c.279C>A:p.His93Gln	coding	Pathogenic
11	5226615	G	T	G5226615T	HBB	NM_000518.4(HBB):c.277C>A:p.His93Asn	coding	Pathogenic
11	5226617	A	G	A5226617G	HBB	NM_000518.4(HBB):c.275T>C:p.Leu92Pro	coding	Pathogenic
11	5226621	C	A	C5226621A	HBB	NM_000518.5(HBB):c.271G>T:p.Glu91Ter	coding	Pathogenic
11	5226626	A	G	A5226626G	HBB	NM_000518.4(HBB):c.266T>C:p.Leu89Pro	coding	Pathogenic
11	5226629	G	A	G5226629A	HBB	NM_000518.4(HBB):c.263C>T:p.Thr88Ile	coding	Benign
11	5226630	T	G	T5226630G	HBB	NM_000518.5(HBB):c.262A>C:p.Thr88Pro	coding	Benign/Likely_benign
11	5226635	A	G	A5226635G	HBB	NM_000518.5(HBB):c.257T>C:p.Phe86Ser	coding	Pathogenic
11	5226645	T	C	T5226645C	HBB	NM_000518.4(HBB):c.247A>G:p.Lys83Glu	coding	Pathogenic
11	5226693	T	A	T5226693A	HBB	NM_000518.5(HBB):c.199A>T:p.Lys67Ter	coding	Pathogenic
11	5226702	G	A	G5226702A	HBB	NM_000518.5(HBB):c.190C>T:p.His64Tyr	coding	Pathogenic
11	5226708	T	A	T5226708A	HBB	NM_000518.5(HBB):c.184A>T:p.Lys62Ter	coding	Pathogenic
11	5226714	T	A	T5226714A	HBB	NM_000518.5(HBB):c.178A>T:p.Lys60Ter	coding	Pathogenic
11	5226716	G	C	G5226716C	HBB	NM_000518.5(HBB):c.176C>G:p.Pro59Arg	coding	Pathogenic
11	5226758	G	C	G5226758C	HBB	NM_000518.5(HBB):c.134C>G:p.Ser45Cys	coding	Pathogenic
11	5226762	C	A	C5226762A	HBB	NM_000518.5(HBB):c.130G>T:p.Glu44Ter	coding	Pathogenic
11	5226762	C	G	C5226762G	HBB	NM_000518.4(HBB):c.130G>C:p.Glu44Gln	coding	Benign
11	5226764	A	G	A5226764G	HBB	NM_000518.5(HBB):c.128T>C:p.Phe43Ser	coding	Pathogenic
11	5226765	A	C	A5226765C	HBB	NM_000518.4(HBB):c.127T>G:p.Phe43Val	coding	Pathogenic
11	5226765	A	G	A5226765G	HBB	NM_000518.5(HBB):c.127T>C:p.Phe43Leu	coding	Pathogenic
11	5226774	G	A	G5226774A	HBB	NM_000518.5(HBB):c.118C>T:p.Gln40Ter	coding	Pathogenic
11	5226778	C	T	C5226778T	HBB	NM_000518.5(HBB):c.114G>A:p.Trp38Ter	coding	Pathogenic/Likely_pathogenic
11	5226779	C	T	C5226779T	HBB	NM_000518.5(HBB):c.113G>A:p.Trp38Ter	coding	Pathogenic
11	5226782	G	T	G5226782T	HBB	NM_000518.4(HBB):c.110C>A:p.Pro37His	coding	Pathogenic
11	5226784	G	C	G5226784C	HBB	NM_000518.5(HBB):c.108C>G:p.Tyr36Ter	coding	Pathogenic
11	5226784	G	T	G5226784T	HBB	NM_000518.5(HBB):c.108C>A:p.Tyr36Ter	coding	Pathogenic
11	5226785	T	C	T5226785C	HBB	NM_000518.5(HBB):c.107A>G:p.Tyr36Cys	coding	Pathogenic
11	5226789	C	A	C5226789A	HBB	NM_000518.5(HBB):c.103G>T:p.Val35Phe	coding	Pathogenic
11	5226799	C	G	C5226799G	HBB	NM_000518.5(HBB):c.93G>C:p.Arg31Ser	coding	Pathogenic
11	5226800	C	G	C5226800G	HBB	NM_000518.5(HBB):c.93-1G>C	coding	Pathogenic
11	5226800	C	T	C5226800T	HBB	NM_000518.5(HBB):c.93-1G>A	coding	Pathogenic
11	5226801	T	C	T5226801C	HBB	NM_000518.5(HBB):c.93-2A>G	noncoding	Pathogenic
11	5226801	T	G	T5226801G	HBB	NM_000518.5(HBB):c.93-2A>C	noncoding	Pathogenic
11	5226802	A	C	A5226802C	HBB	NM_000518.5(HBB):c.93-3T>G	noncoding	Pathogenic
11	5226814	A	C	A5226814C	HBB	NM_000518.5(HBB):c.93-15T>G	noncoding	Pathogenic/Likely_pathogenic
11	5226820	C	T	C5226820T	HBB	NM_000518.5(HBB):c.93-21G>A	noncoding	Pathogenic
11	5226883	A	C	A5226883C	HBB	NM_000518.5(HBB):c.92+47T>G	noncoding	Benign
11	5226917	C	A	C5226917A	HBB	NM_000518.5(HBB):c.92+13G>T	noncoding	Benign
11	5226925	C	A	C5226925A	HBB	NM_000518.5(HBB):c.92+5G>T	noncoding	Pathogenic
11	5226925	C	G	C5226925G	HBB	NM_000518.5(HBB):c.92+5G>C	noncoding	Pathogenic
11	5226925	C	T	C5226925T	HBB	NM_000518.5(HBB):c.92+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	5226928	A	C	A5226928C	HBB	NM_000518.5(HBB):c.92+2T>G	noncoding	Pathogenic
11	5226928	A	G	A5226928G	HBB	NM_000518.5(HBB):c.92+2T>C	noncoding	Pathogenic
11	5226928	A	T	A5226928T	HBB	NM_000518.5(HBB):c.92+2T>A	noncoding	Pathogenic
11	5226929	C	A	C5226929A	HBB	NM_000518.5(HBB):c.92+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	5226929	C	G	C5226929G	HBB	NM_000518.5(HBB):c.92+1G>C	noncoding	Pathogenic
11	5226929	C	T	C5226929T	HBB	NM_000518.5(HBB):c.92+1G>A	noncoding	Pathogenic
11	5226930	C	G	C5226930G	HBB	NM_000518.4(HBB):c.92G>C:p.Arg31Thr	coding	Pathogenic
11	5226931	T	C	T5226931C	HBB	NM_000518.5(HBB):c.91A>G:p.Arg31Gly	coding	Pathogenic
11	5226932	G	A	G5226932A	HBB	NM_000518.5(HBB):c.90C>T:p.Gly30=	coding	Pathogenic
11	5226940	C	A	C5226940A	HBB	NM_000518.5(HBB):c.82G>T:p.Ala28Ser	coding	Pathogenic/Likely_pathogenic
11	5226941	C	G	C5226941G	HBB;LOC106099062;LOC107133510	NM_000518.5(HBB):c.81G>C:p.Glu27Asp	coding	Pathogenic
11	5226942	T	C	T5226942C	HBB	NM_000518.4(HBB):c.80A>G:p.Glu27Gly	coding	Pathogenic
11	5226943	C	A	C5226943A	HBB	NM_000518.5(HBB):c.79G>T:p.Glu27Ter	coding	Pathogenic
11	5226943	C	T	C5226943T	HBB	NM_000518.5(HBB):c.79G>A:p.Glu27Lys	coding	Pathogenic
11	5226947	A	T	A5226947T	HBB	NM_000518.5(HBB):c.75T>A:p.Gly25=	coding	Pathogenic/Likely_pathogenic
11	5226952	C	T	C5226952T	HBB	NM_000518.5(HBB):c.70G>A:p.Val24Ile	coding	Pathogenic
11	5226955	C	A	C5226955A	HBB	NM_000518.5(HBB):c.67G>T:p.Glu23Ter	coding	Pathogenic
11	5226961	C	T	C5226961T	HBB	NM_000518.5(HBB):c.61G>A:p.Val21Met	coding	Pathogenic
11	5226963	T	C	T5226963C	HBB	NM_000518.5(HBB):c.59A>G:p.Asn20Ser	coding	Pathogenic
11	5226970	T	A	T5226970A	HBB	NM_000518.5(HBB):c.52A>T:p.Lys18Ter	coding	Pathogenic
11	5226974	C	T	C5226974T	HBB	NM_000518.5(HBB):c.48G>A:p.Trp16Ter	coding	Pathogenic
11	5226975	C	T	C5226975T	HBB	NM_000518.5(HBB):c.47G>A:p.Trp16Ter	coding	Pathogenic
11	5227000	C	A	C5227000A	HBB	NM_000518.5(HBB):c.22G>T:p.Glu8Ter	coding	Pathogenic
11	5227000	C	T	C5227000T	HBB	NM_000518.5(HBB):c.22G>A:p.Glu8Lys	coding	Pathogenic
11	5227003	C	A	C5227003A	HBB	NM_000518.5(HBB):c.19G>T:p.Glu7Ter	coding	Pathogenic
11	5227003	C	T	C5227003T	HBB	NM_000518.4(HBB):c.19G>A:p.Glu7Lys	coding	Pathogenic
11	5227013	A	G	A5227013G	HBB	NM_000518.5(HBB):c.9T>C:p.His3=	coding	Benign
11	5227018	C	A	C5227018A	HBB	NM_000518.5(HBB):c.4G>T:p.Val2Leu	coding	Pathogenic
11	5227019	C	A	C5227019A	HBB	NM_000518.5(HBB):c.3G>T:p.Met1Ile	coding	Pathogenic
11	5227019	C	G	C5227019G	HBB	NM_000518.5(HBB):c.3G>C:p.Met1Ile	coding	Pathogenic
11	5227019	C	T	C5227019T	HBB	NM_000518.5(HBB):c.3G>A:p.Met1Ile	coding	Pathogenic
11	5227020	A	C	A5227020C	HBB	NM_000518.5(HBB):c.2T>G:p.Met1Arg	coding	Pathogenic
11	5227020	A	G	A5227020G	HBB	NM_000518.5(HBB):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
11	5227020	A	T	A5227020T	HBB	NM_000518.5(HBB):c.2T>A:p.Met1Lys	coding	Pathogenic/Likely_pathogenic
11	5227021	T	C	T5227021C	HBB	NM_000518.5(HBB):c.1A>G:p.Met1Val	coding	Pathogenic
11	5227021	T	G	T5227021G	HBB	NM_000518.5(HBB):c.1A>C:p.Met1Leu	coding	Pathogenic
11	5227039	G	C	G5227039C	HBB	NM_000518.5(HBB):c.-18C>G	noncoding	Pathogenic
11	5227050	C	T	C5227050T	HBB	NM_000518.5(HBB):c.-29G>A	noncoding	Pathogenic
11	5227056	T	C	T5227056C	HBB	NM_000518.5(HBB):c.-35A>G	noncoding	Benign
11	5227071	T	G	T5227071G	HBB	NM_000518.5(HBB):c.-50A>C	noncoding	Pathogenic/Likely_pathogenic
11	5227096	C	A	C5227096A	HBB	NC_000011.10:g.5227096C>A	noncoding	Pathogenic
11	5227097	T	G	T5227097G	HBB	NC_000011.10:g.5227097T>G	noncoding	Pathogenic
11	5227098	T	A	T5227098A	HBB	NC_000011.10:g.5227098T>A	noncoding	Pathogenic
11	5227099	T	C	T5227099C	HBB	NM_000518.5(HBB):c.-78A>G	noncoding	Pathogenic/Likely_pathogenic
11	5227099	T	G	T5227099G	HBB	NM_000518.5(HBB):c.-78A>C	noncoding	Pathogenic
11	5227100	T	C	T5227100C	HBB	NM_000518.5(HBB):c.-79A>G	noncoding	Pathogenic
11	5227100	T	G	T5227100G	HBB	NC_000011.10:g.5227100T>G	noncoding	Pathogenic
11	5227101	A	C	A5227101C	HBB	NC_000011.10:g.5227101A>C	noncoding	Pathogenic
11	5227101	A	G	A5227101G	HBB	NC_000011.10:g.5227101A>G	noncoding	Pathogenic
11	5227101	A	T	A5227101T	HBB	NM_000518.5(HBB):c.-80T>A	noncoding	Pathogenic/Likely_pathogenic
11	5227102	T	C	T5227102C	HBB	NM_000518.5(HBB):c.-81A>G	noncoding	Pathogenic
11	5227103	G	T	G5227103T	HBB	NM_000518.5(HBB):c.-82C>A	noncoding	Pathogenic
11	5227142	G	A	G5227142A	HBB	NC_000011.10:g.5227142G>A	noncoding	Pathogenic/Likely_pathogenic
11	5227143	A	T	A5227143T	HBB	NC_000011.10:g.5227143A>T	noncoding	Pathogenic
11	5227147	G	T	G5227147T	HBB	NC_000011.10:g.5227147G>T	noncoding	Pathogenic
11	5227157	G	C	G5227157C	HBB	NM_000518.5(HBB):c.-136C>G	noncoding	Pathogenic
11	5227158	G	A	G5227158A	HBB	NM_000518.5(HBB):c.-137C>T	noncoding	Pathogenic
11	5227158	G	C	G5227158C	HBB	NM_000518.5(HBB):c.-137C>G	noncoding	Pathogenic/Likely_pathogenic
11	5227158	G	T	G5227158T	HBB	NM_000518.5(HBB):c.-137C>A	noncoding	Pathogenic/Likely_pathogenic
11	5227159	G	A	G5227159A	HBB	NM_000518.5(HBB):c.-138C>T	noncoding	Pathogenic/Likely_pathogenic
11	5227159	G	C	G5227159C	HBB	NC_000011.10:g.5227159G>C	noncoding	Pathogenic
11	5227159	G	T	G5227159T	HBB	NM_000518.5(HBB):c.-138C>A	noncoding	Pathogenic/Likely_pathogenic
11	5227161	G	A	G5227161A	HBB	NM_000518.5(HBB):c.-140C>T	noncoding	Pathogenic/Likely_pathogenic
11	5227163	G	A	G5227163A	HBB	NM_000518.5(HBB):c.-142C>T	noncoding	Pathogenic
11	5227172	G	A	G5227172A	HBB	NM_000518.5(HBB):c.-151C>T	noncoding	Pathogenic
11	5227269	T	C	T5227269C	HBB	NC_000011.10:g.5227269T>C	noncoding	Benign
11	5227294	A	G	A5227294G	HBB	NC_000011.10:g.5227294A>G	noncoding	Benign
11	5227411	G	A	G5227411A	HBB	NC_000011.10:g.5227411G>A	noncoding	Benign
11	5227540	G	A	G5227540A	HBB	NC_000011.10:g.5227540G>A	noncoding	Benign
11	5232765	C	T	C5232765T	HBD	NM_000519.3(HBD):c.*199G>A	noncoding	Pathogenic
11	5233985	A	T	A5233985T	HBD	NM_000519.4(HBD):c.315+6T>A	noncoding	Pathogenic
11	5234012	G	A	G5234012A	HBD	NM_000519.4(HBD):c.294C>T:p.His98=	coding	Benign
11	5234193	C	T	C5234193T	HBD	NM_000519.4(HBD):c.113G>A:p.Trp38Ter	coding	Pathogenic
11	5234342	C	G	C5234342G	HBD	NM_000519.4(HBD):c.92G>C:p.Arg31Thr	coding	Pathogenic
11	5234514	T	C	T5234514C	HBD	NM_000519.3(HBD):c.-81A>G	noncoding	Pathogenic
11	5234559	T	A	T5234559A	HBD	NM_000519.3(HBD):c.-126A>T	noncoding	Pathogenic
11	5234560	A	G	A5234560G	HBD	NM_000519.3(HBD):c.-127T>C	noncoding	Pathogenic
11	5249456	G	A	G5249456A	HBG1	NM_000559.2(HBG1):c.227C>T:p.Thr76Ile	coding	Benign
11	5249971	G	A	G5249971A	HBG1	NM_000559.2(HBG1):c.-167C>T	noncoding	Pathogenic
11	5249974	C	T	C5249974T	HBG1	NM_000559.2(HBG1):c.-170G>A	noncoding	Pathogenic
11	5250052	G	C	G5250052C	HBG1	NM_000559.2(HBG1):c.-53-195C>G	noncoding	Pathogenic
11	5250053	G	A	G5250053A	HBG1	NM_000559.2(HBG1):c.-53-196C>T	noncoding	Pathogenic
11	5250055	A	G	A5250055G	HBG1	NM_000559.2(HBG1):c.-53-198T>C	noncoding	Pathogenic
11	5254330	G	A	G5254330A	HBG2	NM_000184.2(HBG2):c.277C>T:p.His93Tyr	coding	Pathogenic
11	5254405	C	T	C5254405T	HBG2	NM_000184.3(HBG2):c.202G>A:p.Val68Met	coding	Pathogenic
11	5254417	G	A	G5254417A	HBG2	NM_000184.3(HBG2):c.190C>T:p.His64Tyr	coding	Pathogenic
11	5254482	A	G	A5254482G	HBG2	NM_000184.3(HBG2):c.125T>C:p.Phe42Ser	coding	Pathogenic
11	5254644	G	T	G5254644T	HBG2	NM_000184.3(HBG2):c.85C>A:p.Leu29Met	coding	Pathogenic
11	5254895	G	A	G5254895A	HBG2	NM_000184.2(HBG2):c.-167C>T	noncoding	Pathogenic
11	5254895	G	T	G5254895T	HBG2	NM_000184.2(HBG2):c.-167C>A	noncoding	Pathogenic
11	5254956	A	G	A5254956G	HBG2	NM_000184.2(HBG2):c.-228T>C	noncoding	Pathogenic
11	5254983	G	C	G5254983C	HBG2	NM_000184.2(HBG2):c.-255C>G	noncoding	Pathogenic
11	5323848	A	G	A5323848G	OR51B2	NM_033180.4(OR51B2):c.450T>C:p.Gly150=	coding	Benign
11	5324294	A	C	A5324294C	OR51B2	NM_033180.4(OR51B2):c.4T>G:p.Trp2Gly	coding	Benign
11	5515318	C	T	C5515318T	UBQLNL	NM_145053.5(UBQLNL):c.1124G>A:p.Arg375Gln	coding	Benign
11	5515529	G	A	G5515529A	UBQLNL	NM_145053.5(UBQLNL):c.913C>T:p.Gln305Ter	coding	Benign
11	5664855	G	A	G5664855A	TRIM5	NM_033034.3(TRIM5):c.1436C>T:p.Pro479Leu	coding	Benign
11	5667718	A	G	A5667718G	TRIM5	NM_033034.3(TRIM5):c.745-7T>C	noncoding	Benign
11	5678194	C	T	C5678194T	TRIM5	NM_033034.3(TRIM5):c.744+10G>A	noncoding	Benign
11	5678261	T	C	T5678261C	TRIM5	NM_033034.3(TRIM5):c.687A>G:p.Arg229=	coding	Benign
11	5696550	C	T	C5696550T	TRIM22	NM_006074.5(TRIM22):c.318C>T:p.Ile106=	coding	Benign
11	5755396	C	T	C5755396T	OR52N4	NM_001005175.3(OR52N4):c.656C>T:p.Ser219Phe	coding	Benign
11	5755696	A	G	A5755696G	OR52N4	NM_001005175.3(OR52N4):c.956A>G:p.Tyr319Cys	coding	Benign
11	5821018	T	C	T5821018C	OR52N2	NM_001005174.1(OR52N2):c.683T>C:p.Met228Thr	coding	Benign
11	5841212	A	C	A5841212C	OR52E6	NM_001005167.2(OR52E6):c.686T>G:p.Leu229Arg	coding	Benign
11	5841501	A	G	A5841501G	OR52E6	NM_001005167.2(OR52E6):c.397T>C:p.Trp133Arg	coding	Benign
11	5841870	G	A	G5841870A	OR52E6	NM_001005167.2(OR52E6):c.28C>T:p.His10Tyr	coding	Benign
11	6240263	A	G	A6240263G	CNGA4	NM_001037329.4(CNGA4):c.469A>G:p.Thr157Ala	coding	Benign
11	6240721	C	T	C6240721T	CNGA4	NM_001037329.4(CNGA4):c.917+10C>T	noncoding	Benign
11	6244339	A	T	A6244339T	CNGA4	NM_001037329.4(CNGA4):c.1658A>T:p.Glu553Val	coding	Benign
11	6260037	C	T	C6260037T	CCKBR	NM_176875.4(CCKBR):c.109C>T:p.Leu37Phe	coding	Benign
11	6270078	C	G	C6270078G	CCKBR	NM_176875.4(CCKBR):c.404-10C>G	noncoding	Benign
11	6390694	G	A	G6390694A	SMPD1	NM_000543.5(SMPD1):c.96G>A:p.Trp32Ter	coding	Pathogenic/Likely_pathogenic
11	6390697	G	A	G6390697A	SMPD1	NM_000543.5(SMPD1):c.99G>A:p.Met33Ile	coding	Benign/Likely_benign
11	6390705	T	C	T6390705C	SMPD1	NM_000543.5(SMPD1):c.107T>C:p.Val36Ala	coding	Benign
11	6390839	C	T	C6390839T	SMPD1	NM_000543.5(SMPD1):c.241C>T:p.Arg81Ter	coding	Pathogenic/Likely_pathogenic
11	6390912	T	C	T6390912C	SMPD1	NM_000543.5(SMPD1):c.314T>C:p.Leu105Pro	coding	Pathogenic/Likely_pathogenic
11	6391540	T	C	T6391540C	SMPD1	NM_000543.5(SMPD1):c.475T>C:p.Cys159Arg	coding	Pathogenic/Likely_pathogenic
11	6391574	G	A	G6391574A	SMPD1	NM_000543.5(SMPD1):c.509G>A:p.Trp170Ter	coding	Pathogenic
11	6391622	C	T	C6391622T	SMPD1	NM_000543.5(SMPD1):c.557C>T:p.Pro186Leu	coding	Pathogenic
11	6391624	C	T	C6391624T	SMPD1	NM_000543.5(SMPD1):c.559C>T:p.Pro187Ser	coding	Benign
11	6391657	G	C	G6391657C	SMPD1	NM_000543.5(SMPD1):c.592G>C:p.Ala198Pro	coding	Pathogenic
11	6391701	T	C	T6391701C	SMPD1	NM_000543.5(SMPD1):c.636T>C:p.Asp212=	coding	Benign
11	6391753	C	T	C6391753T	SMPD1	NM_000543.5(SMPD1):c.688C>T:p.Arg230Cys	coding	Pathogenic/Likely_pathogenic
11	6391779	A	G	A6391779G	SMPD1	NM_000543.5(SMPD1):c.714A>G:p.Ala238=	coding	Benign
11	6391784	G	A	G6391784A	SMPD1	NM_000543.5(SMPD1):c.719G>A:p.Arg240Gln	coding	Benign/Likely_benign
11	6391795	G	A	G6391795A	SMPD1	NM_000543.5(SMPD1):c.730G>A:p.Gly244Arg	coding	Pathogenic
11	6391804	G	A	G6391804A	SMPD1	NM_000543.5(SMPD1):c.739G>A:p.Gly247Ser	coding	Pathogenic/Likely_pathogenic
11	6391807	G	A	G6391807A	SMPD1	NM_000543.5(SMPD1):c.742G>A:p.Glu248Lys	coding	Pathogenic/Likely_pathogenic
11	6391813	A	C	A6391813C	SMPD1	NM_000543.5(SMPD1):c.748A>C:p.Ser250Arg	coding	Pathogenic/Likely_pathogenic
11	6391822	G	C	G6391822C	SMPD1	NM_000543.5(SMPD1):c.757G>C:p.Asp253His	coding	Pathogenic/Likely_pathogenic
11	6391853	T	A	T6391853A	SMPD1	NM_000543.5(SMPD1):c.788T>A:p.Leu263Ter	coding	Pathogenic
11	6391872	C	T	C6391872T	SMPD1	NM_000543.5(SMPD1):c.807C>T:p.Ala269=	coding	Benign
11	6391878	T	C	T6391878C	SMPD1	NM_000543.5(SMPD1):c.813T>C:p.Pro271=	coding	Benign/Likely_benign
11	6391912	G	A	G6391912A	SMPD1	NM_000543.5(SMPD1):c.847G>A:p.Ala283Thr	coding	Pathogenic/Likely_pathogenic
11	6391939	C	A	C6391939A	SMPD1	NM_000543.5(SMPD1):c.874C>A:p.Gln292Lys	coding	Pathogenic
11	6391945	C	A	C6391945A	SMPD1	NM_000543.5(SMPD1):c.880C>A:p.Gln294Lys	coding	Pathogenic
11	6391952	G	A	G6391952A	SMPD1	NM_000543.5(SMPD1):c.887G>A:p.Arg296Gln	coding	Benign/Likely_benign
11	6391966	G	A	G6391966A	SMPD1	NM_000543.5(SMPD1):c.901G>A:p.Val301Ile	coding	Benign/Likely_benign
11	6391976	T	C	T6391976C	SMPD1	NM_000543.5(SMPD1):c.911T>C:p.Leu304Pro	coding	Pathogenic
11	6392017	G	A	G6392017A	SMPD1	NM_000543.5(SMPD1):c.952G>A:p.Val318Met	coding	Pathogenic
11	6392036	C	T	C6392036T	SMPD1	NM_000543.5(SMPD1):c.971C>T:p.Thr324Ile	coding	Benign
11	6392038	C	G	C6392038G	SMPD1	NM_000543.5(SMPD1):c.973C>G:p.Pro325Ala	coding	Pathogenic/Likely_pathogenic
11	6392119	G	T	G6392119T	SMPD1	NM_000543.5(SMPD1):c.1054G>T:p.Glu352Ter	coding	Pathogenic
11	6392136	C	T	C6392136T	SMPD1	NM_000543.5(SMPD1):c.1071C>T:p.Ala357=	coding	Benign/Likely_benign
11	6392141	C	A	C6392141A	SMPD1	NM_000543.5(SMPD1):c.1076C>A:p.Ala359Asp	coding	Pathogenic
11	6393215	G	C	G6393215C	SMPD1	NM_000543.5(SMPD1):c.1092-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	6393241	C	T	C6393241T	SMPD1	NM_000543.5(SMPD1):c.1117C>T:p.Pro373Ser	coding	Pathogenic
11	6393246	C	G	C6393246G	SMPD1	NM_000543.5(SMPD1):c.1122C>G:p.Tyr374Ter	coding	Pathogenic
11	6393276	G	A	G6393276A	SMPD1	NM_000543.5(SMPD1):c.1152G>A:p.Met384Ile	coding	Pathogenic
11	6393278	A	G	A6393278G	SMPD1	NM_000543.5(SMPD1):c.1154A>G:p.Asn385Ser	coding	Pathogenic/Likely_pathogenic
11	6393301	T	G	T6393301G	SMPD1	NM_000543.5(SMPD1):c.1177T>G:p.Trp393Gly	coding	Pathogenic
11	6393376	C	T	C6393376T	SMPD1	NM_000543.5(SMPD1):c.1252C>T:p.Arg418Ter	coding	Pathogenic
11	6393616	G	A	G6393616A	SMPD1	NM_000543.5(SMPD1):c.1264-1G>A	noncoding	Pathogenic
11	6393616	G	T	G6393616T	SMPD1	NM_000543.5(SMPD1):c.1264-1G>T	noncoding	Pathogenic/Likely_pathogenic
11	6393620	C	T	C6393620T	SMPD1	NM_000543.5(SMPD1):c.1267C>T:p.His423Tyr	coding	Pathogenic
11	6393664	G	A	G6393664A	SMPD1	NM_000543.5(SMPD1):c.1311G>A:p.Trp437Ter	coding	Pathogenic
11	6393667	C	A	C6393667A	SMPD1	NM_000543.5(SMPD1):c.1314C>A:p.Ser438Arg	coding	Pathogenic
11	6393680	C	T	C6393680T	SMPD1	NM_000543.5(SMPD1):c.1327C>T:p.Arg443Ter	coding	Pathogenic
11	6393700	C	T	C6393700T	SMPD1	NM_000543.5(SMPD1):c.1340+7C>T	noncoding	Benign/Likely_benign
11	6393895	G	A	G6393895A	SMPD1	NM_000543.5(SMPD1):c.1341-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	6393961	A	C	A6393961C	SMPD1	NM_000543.5(SMPD1):c.1406A>C:p.Tyr469Ser	coding	Pathogenic
11	6393981	C	T	C6393981T	SMPD1	NM_000543.5(SMPD1):c.1426C>T:p.Arg476Trp	coding	Pathogenic/Likely_pathogenic
11	6393985	C	T	C6393985T	SMPD1	NM_000543.5(SMPD1):c.1430C>T:p.Pro477Leu	coding	Pathogenic/Likely_pathogenic
11	6394006	C	A	C6394006A	SMPD1	NM_000543.5(SMPD1):c.1451C>A:p.Ala484Glu	coding	Pathogenic
11	6394204	G	A	G6394204A	SMPD1	NM_000543.5(SMPD1):c.1493G>A:p.Arg498His	coding	Pathogenic/Likely_pathogenic
11	6394204	G	T	G6394204T	APBB1;SMPD1	NM_000543.5(SMPD1):c.1493G>T:p.Arg498Leu	coding	Pathogenic
11	6394209	T	A	T6394209A	SMPD1	NM_000543.5(SMPD1):c.1498T>A:p.Tyr500Asn	coding	Pathogenic
11	6394233	G	A	G6394233A	SMPD1	NM_000543.5(SMPD1):c.1522G>A:p.Gly508Arg	coding	Benign
11	6394233	G	C	G6394233C	SMPD1	NM_000543.5(SMPD1):c.1522G>C:p.Gly508Arg	coding	Benign
11	6394335	C	T	C6394335T	SMPD1	NM_000543.5(SMPD1):c.1624C>T:p.Arg542Ter	coding	Pathogenic
11	6394336	G	A	G6394336A	SMPD1	NM_000543.5(SMPD1):c.1625G>A:p.Arg542Gln	coding	Benign/Likely_benign
11	6394384	T	C	T6394384C	SMPD1	NM_000543.5(SMPD1):c.1673T>C:p.Leu558Pro	coding	Pathogenic
11	6394445	G	C	G6394445C	SMPD1	NM_000543.5(SMPD1):c.1734G>C:p.Lys578Asn	coding	Pathogenic
11	6394460	G	A	G6394460A	SMPD1	NM_000543.5(SMPD1):c.1749G>A:p.Ser583=	coding	Benign
11	6394474	C	T	C6394474T	SMPD1	NM_000543.5(SMPD1):c.1763C>T:p.Thr588Met	coding	Benign/Likely_benign
11	6394516	G	A	G6394516A	SMPD1	NM_000543.5(SMPD1):c.1805G>A:p.Arg602His	coding	Pathogenic/Likely_pathogenic
11	6394652	G	A	G6394652A	SMPD1	NM_000543.5(SMPD1):c.*45G>A	noncoding	Benign
11	6394681	A	C	A6394681C	SMPD1	NM_000543.5(SMPD1):c.*74A>C	noncoding	Benign
11	6394698	C	T	C6394698T	SMPD1	NM_000543.5(SMPD1):c.*91C>T	noncoding	Benign
11	6394901	G	C	G6394901C	SMPD1	NM_000543.5(SMPD1):c.*294G>C	noncoding	Benign
11	6401637	G	A	G6401637A	APBB1	NM_001164.5(APBB1):c.1440C>T:p.His480=	coding	Benign
11	6402677	G	A	G6402677A	APBB1	NM_001164.5(APBB1):c.1153C>T:p.Leu385=	coding	Benign
11	6402717	G	A	G6402717A	APBB1	NM_001164.5(APBB1):c.1113C>T:p.Ala371=	coding	Benign
11	6410970	G	A	G6410970A	APBB1	NM_001164.5(APBB1):c.378C>T:p.Asn126=	coding	Benign
11	6411197	G	A	G6411197A	APBB1	NM_001164.5(APBB1):c.151C>T:p.Arg51Cys	coding	Benign
11	6431388	G	A	G6431388A	HPX	NM_000613.3(HPX):c.1212C>T:p.Asp404=	coding	Benign
11	6431424	C	T	C6431424T	HPX	NM_000613.3(HPX):c.1176G>A:p.Thr392=	coding	Benign
11	6431659	G	A	G6431659A	HPX	NM_000613.3(HPX):c.1111C>T:p.Arg371Trp	coding	Benign
11	6431723	G	A	G6431723A	HPX	NM_000613.3(HPX):c.1047C>T:p.Val349=	coding	Benign
11	6437609	C	T	C6437609T	HPX	NM_000613.3(HPX):c.534G>A:p.Lys178=	coding	Benign
11	6437622	G	A	G6437622A	HPX	NM_000613.3(HPX):c.521C>T:p.Thr174Met	coding	Benign
11	6440254	G	A	G6440254A	HPX	NM_000613.3(HPX):c.247C>T:p.Arg83Trp	coding	Benign
11	6440696	T	C	T6440696C	HPX	NM_000613.3(HPX):c.118A>G:p.Thr40Ala	coding	Benign
11	6440940	G	A	G6440940A	HPX	NM_000613.3(HPX):c.24C>T:p.Pro8=	coding	Benign
11	6440945	C	T	C6440945T	HPX	NM_000613.3(HPX):c.19G>A:p.Ala7Thr	coding	Benign
11	6498224	G	A	G6498224A	DNHD1	NM_144666.2(DNHD1):c.9G>A:p.Pro3=	coding	Benign
11	6502896	A	G	A6502896G	DNHD1	NM_144666.2(DNHD1):c.890A>G:p.Tyr297Cys	coding	Benign
11	6509045	A	G	A6509045G	DNHD1	NM_144666.2(DNHD1):c.1086A>G:p.Pro362=	coding	Benign
11	6509171	G	C	G6509171C	DNHD1	NM_144666.2(DNHD1):c.1134G>C:p.Lys378Asn	coding	Benign
11	6509197	G	A	G6509197A	DNHD1	NM_144666.2(DNHD1):c.1160G>A:p.Arg387Gln	coding	Benign
11	6511360	C	T	C6511360T	DNHD1	NM_144666.2(DNHD1):c.1323C>T:p.Ala441=	coding	Benign
11	6511438	C	G	C6511438G	DNHD1	NM_144666.2(DNHD1):c.1392+9C>G	noncoding	Benign
11	6519689	C	T	C6519689T	DNHD1	NM_144666.2(DNHD1):c.1482C>T:p.Tyr494=	coding	Benign
11	6528532	A	G	A6528532G	DNHD1	NM_144666.2(DNHD1):c.1848A>G:p.Glu616=	coding	Benign
11	6529079	G	A	G6529079A	DNHD1	NM_144666.2(DNHD1):c.2305G>A:p.Gly769Arg	coding	Benign
11	6533736	G	A	G6533736A	DNHD1	NM_144666.2(DNHD1):c.2561G>A:p.Arg854Gln	coding	Benign
11	6538731	G	A	G6538731A	DNHD1	NM_144666.2(DNHD1):c.3246G>A:p.Glu1082=	coding	Benign
11	6540067	C	T	C6540067T	DNHD1	NM_144666.2(DNHD1):c.3612C>T:p.Gly1204=	coding	Benign/Likely_benign
11	6544228	G	A	G6544228A	DNHD1	NM_144666.2(DNHD1):c.3736G>A:p.Ala1246Thr	coding	Benign
11	6544980	C	T	C6544980T	DNHD1	NM_144666.2(DNHD1):c.4041C>T:p.Ser1347=	coding	Benign
11	6544999	G	A	G6544999A	DNHD1	NM_144666.2(DNHD1):c.4060G>A:p.Ala1354Thr	coding	Benign
11	6545011	C	T	C6545011T	DNHD1	NM_144666.2(DNHD1):c.4072C>T:p.Arg1358Cys	coding	Benign
11	6545019	C	G	C6545019G	DNHD1	NM_144666.2(DNHD1):c.4080C>G:p.Phe1360Leu	coding	Benign
11	6545847	G	A	G6545847A	DNHD1	NM_144666.2(DNHD1):c.4908G>A:p.Ala1636=	coding	Benign
11	6546596	G	A	G6546596A	DNHD1	NM_144666.2(DNHD1):c.5657G>A:p.Arg1886Gln	coding	Benign
11	6546732	G	A	G6546732A	DNHD1	NM_144666.2(DNHD1):c.5793G>A:p.Leu1931=	coding	Benign
11	6546843	C	T	C6546843T	DNHD1	NM_144666.2(DNHD1):c.5904C>T:p.Ser1968=	coding	Benign
11	6547003	G	C	G6547003C	DNHD1	NM_144666.2(DNHD1):c.6064G>C:p.Gly2022Arg	coding	Benign
11	6547563	G	A	G6547563A	DNHD1	NM_144666.2(DNHD1):c.6624G>A:p.Gln2208=	coding	Benign
11	6547603	C	T	C6547603T	DNHD1	NM_144666.2(DNHD1):c.6664C>T:p.Arg2222Cys	coding	Benign
11	6548841	G	A	G6548841A	DNHD1	NM_144666.2(DNHD1):c.7295G>A:p.Gly2432Asp	coding	Benign
11	6556870	G	A	G6556870A	DNHD1	NM_144666.2(DNHD1):c.7575G>A:p.Leu2525=	coding	Benign
11	6556918	T	C	T6556918C	DNHD1	NM_144666.2(DNHD1):c.7623T>C:p.Pro2541=	coding	Benign
11	6558255	T	C	T6558255C	DNHD1	NM_144666.2(DNHD1):c.8960T>C:p.Leu2987Pro	coding	Benign
11	6558604	T	C	T6558604C	DNHD1	NM_144666.2(DNHD1):c.9122T>C:p.Ile3041Thr	coding	Benign
11	6559227	G	A	G6559227A	DNHD1	NM_144666.2(DNHD1):c.9463G>A:p.Gly3155Ser	coding	Benign
11	6563060	G	C	G6563060C	DNHD1	NM_144666.2(DNHD1):c.9598G>C:p.Glu3200Gln	coding	Benign
11	6563101	G	A	G6563101A	DNHD1	NM_144666.2(DNHD1):c.9639G>A:p.Leu3213=	coding	Benign
11	6563735	C	A	C6563735A	DNHD1	NM_144666.2(DNHD1):c.9895C>A:p.Leu3299Met	coding	Benign
11	6563776	C	T	C6563776T	DNHD1	NM_144666.2(DNHD1):c.9936C>T:p.Asp3312=	coding	Benign
11	6564377	A	G	A6564377G	DNHD1	NM_144666.2(DNHD1):c.10329A>G:p.Leu3443=	coding	Benign
11	6566929	C	T	C6566929T	DNHD1	NM_144666.2(DNHD1):c.11420C>T:p.Pro3807Leu	coding	Benign
11	6567417	A	G	A6567417G	DNHD1	NM_144666.2(DNHD1):c.11908A>G:p.Ser3970Gly	coding	Benign
11	6567488	A	G	A6567488G	DNHD1	NM_144666.2(DNHD1):c.11979A>G:p.Leu3993=	coding	Benign
11	6568731	T	C	T6568731C	DNHD1	NM_144666.2(DNHD1):c.12728T>C:p.Ile4243Thr	coding	Benign
11	6568773	C	A	C6568773A	DNHD1	NM_144666.2(DNHD1):c.12770C>A:p.Pro4257His	coding	Benign
11	6570076	C	T	C6570076T	DNHD1	NM_144666.2(DNHD1):c.12931C>T:p.Arg4311Cys	coding	Benign
11	6570359	A	C	A6570359C	DNHD1	NM_144666.2(DNHD1):c.13068A>C:p.Thr4356=	coding	Benign/Likely_benign
11	6571968	C	T	C6571968T	DNHD1	NM_144666.2(DNHD1):c.14244C>T:p.Cys4748=	coding	Benign
11	6600781	G	A	G6600781A	RRP8	NM_015324.4(RRP8):c.1048-6C>T	noncoding	Benign
11	6601343	G	A	G6601343A	RRP8	NM_015324.4(RRP8):c.723C>T:p.Arg241=	coding	Benign
11	6601882	C	G	C6601882G	RRP8	NM_015324.4(RRP8):c.433G>C:p.Ala145Pro	coding	Benign
11	6603430	G	A	G6603430A	RRP8	NM_015324.4(RRP8):c.73C>T:p.Pro25Ser	coding	Benign
11	6603786	G	T	G6603786T	ILK	NM_004517.4(ILK):c.-129G>T	noncoding	Benign
11	6603807	T	C	T6603807C	ILK	NM_004517.4(ILK):c.-108T>C	noncoding	Benign
11	6604307	C	T	C6604307T	ILK	NM_004517.4(ILK):c.36C>T:p.Asn12=	coding	Benign
11	6608300	G	A	G6608300A	ILK	NM_004517.4(ILK):c.255+89G>A	noncoding	Benign
11	6608420	T	C	T6608420C	ILK	NM_004517.4(ILK):c.282T>C:p.Asn94=	coding	Benign/Likely_benign
11	6608435	C	T	C6608435T	ILK	NM_004517.4(ILK):c.297C>T:p.His99=	coding	Benign
11	6608777	A	C	A6608777C	ILK	NM_004517.4(ILK):c.435A>C:p.Arg145Ser	coding	Benign
11	6609179	T	C	T6609179C	ILK	NM_004517.4(ILK):c.618+23T>C	noncoding	Benign
11	6609602	G	A	G6609602A	ILK	NM_004517.4(ILK):c.819G>A:p.Pro273=	coding	Benign
11	6609712	G	A	G6609712A	ILK	NM_004517.4(ILK):c.857-12G>A	noncoding	Benign/Likely_benign
11	6609731	C	T	C6609731T	ILK	NM_004517.4(ILK):c.864C>T:p.Val288=	coding	Benign/Likely_benign
11	6609785	C	T	C6609785T	ILK	NM_004517.4(ILK):c.918C>T:p.Ala306=	coding	Benign
11	6610130	C	T	C6610130T	ILK	NM_004517.4(ILK):c.1079-18C>T	noncoding	Benign
11	6611776	A	G	A6611776G	TAF10	NM_006284.4(TAF10):c.275T>C:p.Ile92Thr	coding	Benign
11	6612918	C	T	C6612918T	TPP1	NM_000391.4(TPP1):c.*1628G>A	noncoding	Benign
11	6612958	G	A	G6612958A	TPP1	NM_000391.4(TPP1):c.*1588C>T	noncoding	Benign
11	6613428	C	G	C6613428G	TPP1	NM_000391.4(TPP1):c.*1118G>C	noncoding	Benign
11	6614305	A	G	A6614305G	TPP1	NM_000391.4(TPP1):c.*241T>C	noncoding	Benign
11	6614475	C	T	C6614475T	TPP1	NM_000391.4(TPP1):c.*71G>A	noncoding	Benign
11	6614865	C	T	C6614865T	TPP1	NM_000391.4(TPP1):c.1551+1G>A	noncoding	Pathogenic/Likely_pathogenic
11	6614875	T	A	T6614875A	TPP1	NM_000391.4(TPP1):c.1542A>T:p.Gly514=	coding	Benign
11	6614892	G	A	G6614892A	TPP1	NM_000391.4(TPP1):c.1525C>T:p.Gln509Ter	coding	Pathogenic/Likely_pathogenic
11	6614920	A	G	A6614920G	TPP1	NM_000391.4(TPP1):c.1497T>C:p.Pro499=	coding	Benign/Likely_benign
11	6614923	G	A	G6614923A	TPP1	NM_000391.4(TPP1):c.1494C>T:p.Pro498=	coding	Benign/Likely_benign
11	6614978	A	C	A6614978C	TPP1	NM_000391.4(TPP1):c.1439T>G:p.Val480Gly	coding	Pathogenic
11	6615001	T	C	T6615001C	TPP1	NM_000391.4(TPP1):c.1426-10A>G	noncoding	Benign/Likely_benign
11	6615172	G	A	G6615172A	TPP1	NM_000391.4(TPP1):c.1424C>T:p.Ser475Leu	coding	Pathogenic/Likely_pathogenic
11	6615199	A	C	A6615199C	TPP1	NM_000391.4(TPP1):c.1397T>G:p.Val466Gly	coding	Pathogenic
11	6615200	C	T	C6615200T	TPP1	NM_000391.4(TPP1):c.1396G>A:p.Val466Met	coding	Benign/Likely_benign
11	6615213	C	T	C6615213T	TPP1	NM_000391.4(TPP1):c.1383G>A:p.Val461=	coding	Benign/Likely_benign
11	6615217	C	T	C6615217T	TPP1	NM_000391.4(TPP1):c.1379G>A:p.Trp460Ter	coding	Pathogenic/Likely_pathogenic
11	6615256	C	T	C6615256T	TPP1	NM_000391.4(TPP1):c.1340G>A:p.Arg447His	coding	Pathogenic
11	6615414	C	T	C6615414T	TPP1	NM_000391.4(TPP1):c.1266+28G>A	noncoding	Benign
11	6615437	C	T	C6615437T	TPP1	NM_000391.4(TPP1):c.1266+5G>A	noncoding	Benign
11	6615442	C	G	C6615442G	TPP1	NM_000391.4(TPP1):c.1266G>C:p.Gln422His	coding	Pathogenic
11	6615455	C	T	C6615455T	TPP1	NM_000391.4(TPP1):c.1253G>A:p.Arg418Gln	coding	Benign/Likely_benign
11	6615542	C	T	C6615542T	TPP1	NM_000391.4(TPP1):c.1166G>A:p.Gly389Glu	coding	Pathogenic
11	6615586	G	T	G6615586T	TPP1	NM_000391.4(TPP1):c.1146-24C>A	noncoding	Benign
11	6615669	G	C	G6615669C	TPP1	NM_000391.4(TPP1):c.1146-107C>G	noncoding	Benign
11	6616025	G	A	G6616025A	TPP1	NM_000391.4(TPP1):c.1125C>T:p.Arg375=	coding	Benign/Likely_benign
11	6616033	G	C	G6616033C	TPP1	NM_000391.4(TPP1):c.1117C>G:p.Gln373Glu	coding	Benign/Likely_benign
11	6616052	C	T	C6616052T	TPP1	NM_000391.4(TPP1):c.1098G>A:p.Trp366Ter	coding	Pathogenic
11	6616056	C	T	C6616056T	TPP1	NM_000391.4(TPP1):c.1094G>A:p.Cys365Tyr	coding	Pathogenic/Likely_pathogenic
11	6616057	A	G	A6616057G	TPP1	NM_000391.4(TPP1):c.1093T>C:p.Cys365Arg	coding	Pathogenic
11	6616092	T	C	T6616092C	TPP1	NM_000391.4(TPP1):c.1076-18A>G	noncoding	Benign
11	6616273	G	A	G6616273A	TPP1	NM_000391.4(TPP1):c.1075+42C>T	noncoding	Benign
11	6616287	A	G	A6616287G	TPP1	NM_000391.4(TPP1):c.1075+28T>C	noncoding	Benign
11	6616313	A	G	A6616313G	TPP1	NM_000391.4(TPP1):c.1075+2T>C	noncoding	Pathogenic
11	6616346	G	A	G6616346A	TPP1	NM_000391.4(TPP1):c.1044C>T:p.Ala348=	coding	Benign/Likely_benign
11	6616357	T	G	T6616357G	TPP1	NM_000391.4(TPP1):c.1033A>C:p.Met345Leu	coding	Benign/Likely_benign
11	6616361	C	G	C6616361G	TPP1	NM_000391.4(TPP1):c.1029G>C:p.Glu343Asp	coding	Pathogenic
11	6616363	C	T	C6616363T	TPP1	NM_000391.4(TPP1):c.1027G>A:p.Glu343Lys	coding	Pathogenic
11	6616375	G	A	G6616375A	TPP1	NM_000391.4(TPP1):c.1015C>T:p.Arg339Trp	coding	Pathogenic/Likely_pathogenic
11	6616388	G	A	G6616388A	TPP1	NM_000391.4(TPP1):c.1002C>T:p.Ser334=	coding	Benign
11	6616696	C	A	C6616696A	TPP1	NM_000391.4(TPP1):c.851G>T:p.Gly284Val	coding	Pathogenic
11	6616714	T	C	T6616714C	TPP1	NM_000391.4(TPP1):c.833A>G:p.Gln278Arg	coding	Pathogenic/Likely_pathogenic
11	6616720	T	A	T6616720A	TPP1	NM_000391.4(TPP1):c.827A>T:p.Asp276Val	coding	Pathogenic
11	6616760	G	A	G6616760A	TPP1	NM_000391.4(TPP1):c.787C>T:p.Gln263Ter	coding	Pathogenic
11	6616866	A	T	A6616866T	TPP1	NM_000391.4(TPP1):c.688-7T>A	noncoding	Benign/Likely_benign
11	6616877	G	A	G6616877A	TPP1	NM_000391.4(TPP1):c.688-18C>T	noncoding	Benign/Likely_benign
11	6616904	C	T	C6616904T	TPP1	NM_000391.4(TPP1):c.688-45G>A	noncoding	Benign
11	6616943	A	G	A6616943G	TPP1	NM_000391.4(TPP1):c.687+32T>C	noncoding	Benign
11	6616973	A	C	A6616973C	TPP1	NM_000391.4(TPP1):c.687+2T>G	noncoding	Pathogenic/Likely_pathogenic
11	6616974	C	G	C6616974G	TPP1	NM_000391.4(TPP1):c.687+1G>C	noncoding	Pathogenic
11	6617022	G	A	G6617022A	TPP1	NM_000391.4(TPP1):c.640C>T:p.Gln214Ter	coding	Pathogenic
11	6617040	G	A	G6617040A	TPP1	NM_000391.4(TPP1):c.622C>T:p.Arg208Ter	coding	Pathogenic
11	6617045	C	T	C6617045T	TPP1	NM_000391.4(TPP1):c.617G>A:p.Arg206His	coding	Pathogenic/Likely_pathogenic
11	6617046	G	A	G6617046A	TPP1	NM_000391.4(TPP1):c.616C>T:p.Arg206Cys	coding	Pathogenic
11	6617108	C	T	C6617108T	TPP1	NM_000391.4(TPP1):c.554G>A:p.Arg185His	coding	Benign
11	6617109	G	A	G6617109A	TPP1	NM_000391.4(TPP1):c.553C>T:p.Arg185Cys	coding	Benign/Likely_benign
11	6617149	C	A	C6617149A	TPP1	NM_000391.4(TPP1):c.513G>T:p.Gly171=	coding	Benign/Likely_benign
11	6617154	C	A	C6617154A	TPP1	NM_000391.4(TPP1):c.509-1G>T	coding	Pathogenic/Likely_pathogenic
11	6617154	C	G	C6617154G	TPP1	NM_000391.4(TPP1):c.509-1G>C	coding	Pathogenic
11	6617154	C	T	C6617154T	TPP1	NM_000391.4(TPP1):c.509-1G>A	coding	Pathogenic
11	6617178	G	A	G6617178A	TPP1	NM_000391.4(TPP1):c.509-25C>T	noncoding	Benign
11	6617270	C	T	C6617270T	TPP1	NM_000391.4(TPP1):c.508+31G>A	noncoding	Benign
11	6617275	A	T	A6617275T	TPP1	NM_000391.4(TPP1):c.508+26T>A	noncoding	Benign
11	6617328	G	A	G6617328A	TPP1	NM_000391.4(TPP1):c.481C>T:p.Gln161Ter	coding	Pathogenic
11	6617368	T	C	T6617368C	TPP1	NM_000391.4(TPP1):c.441A>G:p.Glu147=	coding	Benign
11	6617374	A	G	A6617374G	TPP1	NM_000391.4(TPP1):c.435T>C:p.Pro145=	coding	Benign
11	6617621	C	T	C6617621T	TPP1	NM_000391.4(TPP1):c.380+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	6617626	C	T	C6617626T	TPP1	NM_000391.4(TPP1):c.380G>A:p.Arg127Gln	coding	Pathogenic/Likely_pathogenic
11	6617627	G	A	G6617627A	TPP1	NM_000391.4(TPP1):c.379C>T:p.Arg127Ter	coding	Pathogenic
11	6617681	G	A	G6617681A	TPP1	NM_000391.4(TPP1):c.325C>T:p.Gln109Ter	coding	Pathogenic
11	6617695	A	T	A6617695T	TPP1	NM_000391.4(TPP1):c.311T>A:p.Leu104Ter	coding	Pathogenic
11	6617707	T	C	T6617707C	TPP1	NM_000391.4(TPP1):c.299A>G:p.Gln100Arg	coding	Benign/Likely_benign
11	6617769	G	C	G6617769C	TPP1	NM_000391.4(TPP1):c.237C>G:p.Tyr79Ter	coding	Pathogenic
11	6618776	C	G	C6618776G	TPP1	NM_000391.4(TPP1):c.229G>C:p.Gly77Arg	coding	Pathogenic/Likely_pathogenic
11	6618776	C	T	C6618776T	TPP1	NM_000391.4(TPP1):c.229G>A:p.Gly77Arg	coding	Pathogenic
11	6618809	G	A	G6618809A	TPP1	NM_000391.4(TPP1):c.196C>T:p.Gln66Ter	coding	Pathogenic
11	6618820	G	A	G6618820A	TPP1	NM_000391.4(TPP1):c.185C>T:p.Ser62Leu	coding	Benign
11	6619191	C	G	C6619191G	TPP1	NM_000391.4(TPP1):c.89+5G>C	noncoding	Pathogenic
11	6619195	C	T	C6619195T	TPP1	NM_000391.4(TPP1):c.89+1G>A	noncoding	Pathogenic
11	6619243	G	T	G6619243T	TPP1	NM_000391.4(TPP1):c.42C>A:p.Ile14=	coding	Benign
11	6619522	A	G	A6619522G	TPP1	NC_000011.10:g.6619522A>G	noncoding	Benign
11	6619638	A	G	A6619638G	TPP1	NC_000011.10:g.6619638A>G	noncoding	Benign
11	6622433	G	A	G6622433A	DCHS1	NM_003737.4(DCHS1):c.9243C>T:p.Cys3081=	coding	Benign
11	6622779	C	T	C6622779T	DCHS1	NM_003737.4(DCHS1):c.8897G>A:p.Arg2966His	coding	Benign
11	6622918	C	T	C6622918T	DCHS1	NM_003737.4(DCHS1):c.8758G>A:p.Val2920Met	coding	Benign/Likely_benign
11	6623174	G	A	G6623174A	DCHS1	NM_003737.4(DCHS1):c.8502C>T:p.His2834=	coding	Benign
11	6623272	G	A	G6623272A	DCHS1	NM_003737.4(DCHS1):c.8404C>T:p.Leu2802=	coding	Benign
11	6623384	T	C	T6623384C	DCHS1	NM_003737.4(DCHS1):c.8292A>G:p.Thr2764=	coding	Benign
11	6623407	C	T	C6623407T	DCHS1	NM_003737.4(DCHS1):c.8269G>A:p.Ala2757Thr	coding	Benign
11	6623480	G	A	G6623480A	DCHS1	NM_003737.4(DCHS1):c.8196C>T:p.Asp2732=	coding	Benign
11	6623504	G	A	G6623504A	DCHS1	NM_003737.4(DCHS1):c.8172C>T:p.Leu2724=	coding	Benign
11	6623837	C	T	C6623837T	DCHS1	NM_003737.4(DCHS1):c.7839G>A:p.Glu2613=	coding	Benign
11	6624245	G	A	G6624245A	DCHS1	NM_003737.4(DCHS1):c.7431C>T:p.Asp2477=	coding	Benign
11	6624305	G	A	G6624305A	DCHS1	NM_003737.4(DCHS1):c.7371C>T:p.His2457=	coding	Benign
11	6624365	T	C	T6624365C	DCHS1	NM_003737.4(DCHS1):c.7311A>G:p.Thr2437=	coding	Benign
11	6624877	T	C	T6624877C	DCHS1	NM_003737.4(DCHS1):c.7147-9A>G	noncoding	Benign
11	6625235	T	A	T6625235A	DCHS1	NM_003737.4(DCHS1):c.7109A>T:p.Asn2370Ile	coding	Pathogenic
11	6625269	G	A	G6625269A	DCHS1	NM_003737.4(DCHS1):c.7075C>T:p.Arg2359Cys	coding	Benign
11	6625356	G	A	G6625356A	DCHS1	NM_003737.4(DCHS1):c.6988C>T:p.Arg2330Cys	coding	Pathogenic
11	6625667	C	T	C6625667T	DCHS1	NM_003737.4(DCHS1):c.6792G>A:p.Thr2264=	coding	Benign
11	6625727	C	T	C6625727T	DCHS1	NM_003737.4(DCHS1):c.6732G>A:p.Arg2244=	coding	Benign
11	6626230	A	T	A6626230T	DCHS1	NM_003737.4(DCHS1):c.6515T>A:p.Leu2172Gln	coding	Benign
11	6626266	G	A	G6626266A	DCHS1	NM_003737.4(DCHS1):c.6479C>T:p.Thr2160Ile	coding	Benign
11	6626386	C	T	C6626386T	DCHS1	NM_003737.4(DCHS1):c.6365-6G>A	noncoding	Benign
11	6626391	T	C	T6626391C	DCHS1	NM_003737.4(DCHS1):c.6365-11A>G	noncoding	Benign
11	6626553	T	C	T6626553C	DCHS1	NM_003737.4(DCHS1):c.6363A>G:p.Thr2121=	coding	Benign
11	6626644	C	G	C6626644G	DCHS1	NM_003737.4(DCHS1):c.6272G>C:p.Arg2091Thr	coding	Benign
11	6627101	T	A	T6627101A	DCHS1	NM_003737.4(DCHS1):c.5938A>T:p.Thr1980Ser	coding	Benign
11	6627157	G	A	G6627157A	DCHS1	NM_003737.4(DCHS1):c.5882C>T:p.Pro1961Leu	coding	Benign
11	6627183	A	G	A6627183G	DCHS1	NM_003737.4(DCHS1):c.5856T>C:p.Asp1952=	coding	Benign
11	6627193	G	A	G6627193A	DCHS1	NM_003737.4(DCHS1):c.5846C>T:p.Thr1949Met	coding	Benign
11	6627435	C	T	C6627435T	DCHS1	NM_003737.4(DCHS1):c.5604G>A:p.Val1868=	coding	Benign/Likely_benign
11	6627472	G	T	G6627472T	DCHS1	NM_003737.4(DCHS1):c.5567C>A:p.Pro1856His	coding	Benign/Likely_benign
11	6628664	A	T	A6628664T	DCHS1	NM_003737.4(DCHS1):c.5328T>A:p.Asp1776Glu	coding	Benign
11	6629486	C	T	C6629486T	DCHS1	NM_003737.4(DCHS1):c.5127G>A:p.Leu1709=	coding	Benign
11	6629662	C	T	C6629662T	DCHS1	NM_003737.4(DCHS1):c.5035+10G>A	noncoding	Benign
11	6629769	C	A	C6629769A	DCHS1	NM_003737.4(DCHS1):c.4938G>T:p.Ala1646=	coding	Benign
11	6630109	G	A	G6630109A	DCHS1	NM_003737.4(DCHS1):c.4685C>T:p.Pro1562Leu	coding	Benign
11	6630579	A	G	A6630579G	DCHS1	NM_003737.4(DCHS1):c.4215T>C:p.Leu1405=	coding	Benign
11	6631387	C	T	C6631387T	DCHS1	NM_003737.4(DCHS1):c.3696G>A:p.Pro1232=	coding	Benign
11	6632022	T	A	T6632022A	DCHS1	NM_003737.4(DCHS1):c.3481+9A>T	noncoding	Benign
11	6632249	G	A	G6632249A	DCHS1	NM_003737.4(DCHS1):c.3263C>T:p.Thr1088Ile	coding	Benign
11	6632336	G	T	G6632336T	DCHS1	NM_003737.4(DCHS1):c.3176C>A:p.Ala1059Glu	coding	Benign
11	6632516	C	T	C6632516T	DCHS1	NM_003737.4(DCHS1):c.2996G>A:p.Arg999Gln	coding	Benign
11	6632559	G	A	G6632559A	DCHS1	NM_003737.4(DCHS1):c.2953C>T:p.Arg985Trp	coding	Benign
11	6632812	C	T	C6632812T	DCHS1	NM_003737.4(DCHS1):c.2700G>A:p.Thr900=	coding	Benign
11	6633009	C	A	C6633009A	DCHS1	NM_003737.4(DCHS1):c.2503G>T:p.Gly835Ter	coding	Pathogenic
11	6634101	T	A	T6634101A	DCHS1	NM_003737.4(DCHS1):c.1986+17A>T	noncoding	Benign
11	6634202	G	A	G6634202A	DCHS1	NM_003737.4(DCHS1):c.1902C>T:p.His634=	coding	Benign
11	6634316	G	A	G6634316A	DCHS1	NM_003737.4(DCHS1):c.1798-10C>T	noncoding	Benign
11	6639820	C	A	C6639820A	DCHS1	NM_003737.4(DCHS1):c.1794G>T:p.Leu598=	coding	Benign
11	6639939	C	A	C6639939A	DCHS1	NM_003737.4(DCHS1):c.1675G>T:p.Ala559Ser	coding	Benign
11	6640069	G	A	G6640069A	DCHS1	NM_003737.4(DCHS1):c.1545C>T:p.Gly515=	coding	Benign
11	6640090	G	A	G6640090A	DCHS1	NM_003737.4(DCHS1):c.1524C>T:p.Val508=	coding	Benign
11	6640369	G	T	G6640369T	DCHS1	NM_003737.4(DCHS1):c.1245C>A:p.Ser415Arg	coding	Benign/Likely_benign
11	6640480	G	C	G6640480C	DCHS1	NM_003737.4(DCHS1):c.1134C>G:p.Ala378=	coding	Benign
11	6640492	T	C	T6640492C	DCHS1	NM_003737.4(DCHS1):c.1122A>G:p.Gln374=	coding	Benign
11	6640556	C	T	C6640556T	DCHS1	NM_003737.4(DCHS1):c.1058G>A:p.Arg353Gln	coding	Benign
11	6640662	G	A	G6640662A	DCHS1	NM_003737.4(DCHS1):c.952C>T:p.Arg318Trp	coding	Benign
11	6641018	G	C	G6641018C	DCHS1	NM_003737.4(DCHS1):c.596C>G:p.Pro199Arg	coding	Benign
11	6641071	C	T	C6641071T	DCHS1	NM_003737.4(DCHS1):c.543G>A:p.Ala181=	coding	Benign
11	6641235	C	T	C6641235T	DCHS1	NM_003737.4(DCHS1):c.379G>A:p.Val127Ile	coding	Benign/Likely_benign
11	6641356	G	A	G6641356A	DCHS1	NM_003737.4(DCHS1):c.258C>T:p.Ser86=	coding	Benign
11	6785232	G	C	G6785232C	OR2AG1	NM_001004489.2(OR2AG1):c.195G>C:p.Gln65His	coding	Benign
11	6785379	A	G	A6785379G	OR2AG1	NM_001004489.2(OR2AG1):c.342A>G:p.Leu114=	coding	Benign
11	6785440	C	G	C6785440G	OR2AG1	NM_001004489.2(OR2AG1):c.403C>G:p.Leu135Val	coding	Benign
11	6785585	A	C	A6785585C	OR2AG1	NM_001004489.2(OR2AG1):c.548A>C:p.His183Pro	coding	Benign
11	6785821	C	A	C6785821A	OR2AG1	NM_001004489.2(OR2AG1):c.784C>A:p.Pro262Thr	coding	Benign
11	6785985	C	T	C6785985T	OR2AG1	NM_001004489.2(OR2AG1):c.948C>T:p.Leu316=	coding	Benign
11	6877383	C	T	C6877383T	OR10A4	NM_207186.2(OR10A4):c.736C>T:p.Leu246Phe	coding	Benign
11	6877558	G	A	G6877558A	OR10A4	NM_207186.2(OR10A4):c.911G>A:p.Arg304Gln	coding	Benign
11	6932384	G	A	G6932384A	ZNF215	NM_013250.4(ZNF215):c.112G>A:p.Val38Ile	coding	Benign
11	6932628	T	C	T6932628C	ZNF215	NM_013250.4(ZNF215):c.356T>C:p.Met119Thr	coding	Benign
11	6955878	T	C	T6955878C	ZNF215	NM_013250.4(ZNF215):c.901T>C:p.Phe301Leu	coding	Benign
11	7038843	A	T	A7038843T	NLRP14	NM_176822.4(NLRP14):c.257A>T:p.Asp86Val	coding	Benign
11	7039746	A	T	A7039746T	NLRP14	NM_176822.3(NLRP14):c.322A>T:p.Lys108Ter	coding	Benign
11	7043040	T	C	T7043040C	NLRP14	NM_176822.4(NLRP14):c.1014T>C:p.Tyr338=	coding	Benign
11	7043320	G	T	G7043320T	NLRP14	NM_176822.4(NLRP14):c.1294G>T:p.Ala432Ser	coding	Benign
11	7062429	C	T	C7062429T	NLRP14	NM_176822.4(NLRP14):c.2901C>T:p.Asn967=	coding	Benign
11	7628300	G	A	G7628300A	PPFIBP2	NM_003621.4(PPFIBP2):c.842G>A:p.Arg281His	coding	Benign
11	7649660	A	G	A7649660G	PPFIBP2	NM_003621.4(PPFIBP2):c.2121+6A>G	noncoding	Benign
11	7959776	A	T	A7959776T	NLRP10	NM_176821.4(NLRP10):c.1836T>A:p.Pro612=	coding	Benign
11	7960751	G	A	G7960751A	NLRP10	NM_176821.4(NLRP10):c.861C>T:p.Ser287=	coding	Benign
11	7960820	C	T	C7960820T	NLRP10	NM_176821.4(NLRP10):c.792G>A:p.Lys264=	coding	Benign
11	7994466	T	G	T7994466G	EIF3F	NM_003754.3(EIF3F):c.694T>G:p.Phe232Val	coding	Pathogenic/Likely_pathogenic
11	7994498	C	T	C7994498T	EIF3F	NM_003754.3(EIF3F):c.726C>T:p.Tyr242=	coding	Benign
11	8039019	G	A	G8039019A	TUB	NM_003320.4(TUB):c.146G>A:p.Arg49Gln	coding	Benign
11	8089649	G	A	G8089649A	TUB	NM_177972.3(TUB):c.78G>A:p.Lys26=	coding	Benign
11	8090092	G	A	G8090092A	TUB	NM_177972.3(TUB):c.114G>A:p.Gln38=	coding	Benign
11	8094089	G	A	G8094089A	TUB	NM_177972.3(TUB):c.297G>A:p.Thr99=	coding	Benign
11	8097704	A	C	A8097704C	TUB	NM_177972.3(TUB):c.886-10A>C	noncoding	Benign
11	8100512	G	A	G8100512A	TUB	NM_177972.3(TUB):c.1126G>A:p.Val376Ile	coding	Benign
11	8100592	C	T	C8100592T	TUB	NM_177972.3(TUB):c.1206C>T:p.Arg402=	coding	Benign
11	8100867	G	A	G8100867A	TUB	NM_177972.3(TUB):c.1257G>A:p.Thr419=	coding	Benign
11	8100996	C	T	C8100996T	TUB	NM_177972.3(TUB):c.1386C>T:p.Asp462=	coding	Benign
11	8126740	C	A	C8126740A	RIC3	NM_001206671.4(RIC3):c.589G>T:p.Val197Phe	coding	Benign
11	8233861	C	A	C8233861A	LMO1	NM_002315.3(LMO1):c.26-3357G>T	noncoding	Benign
11	8624990	C	T	C8624990T	TRIM66	NM_014818.1(TRIM66):c.2114G>A:p.Ser705Asn	coding	Benign
11	8625058	G	A	G8625058A	TRIM66	NM_014818.1(TRIM66):c.2046C>T:p.Ser682=	coding	Benign
11	8646469	T	G	T8646469G	TRIM66	NM_014818.1(TRIM66):c.500A>C:p.Asn167Thr	coding	Benign
11	8647963	G	A	G8647963A	TRIM66	NM_014818.1(TRIM66):c.407+7C>T	noncoding	Benign
11	8707189	C	T	C8707189T	DENND2B	NM_213618.2(DENND2B):c.2467G>A:p.Ala823Thr	coding	Benign
11	8712713	G	A	G8712713A	DENND2B	NM_213618.2(DENND2B):c.2010C>T:p.His670=	coding	Benign
11	8730030	A	G	A8730030G	DENND2B	NM_213618.2(DENND2B):c.1260T>C:p.Pro420=	coding	Benign
11	8730541	C	T	C8730541T	DENND2B	NM_213618.2(DENND2B):c.749G>A:p.Arg250Gln	coding	Benign
11	8731213	G	T	G8731213T	DENND2B	NM_213618.2(DENND2B):c.81-4C>A	noncoding	Benign
11	8917348	C	G	C8917348G	AKIP1	NM_020642.4(AKIP1):c.470C>G:p.Ala157Gly	coding	Benign
11	9074539	G	A	G9074539A	SCUBE2	NM_020974.3(SCUBE2):c.459C>T:p.Cys153=	coding	Benign
11	9142762	C	T	C9142762T	DENND5A	NM_015213.4(DENND5A):c.3471G>A:p.Ser1157=	coding	Benign/Likely_benign
11	9179071	C	T	C9179071T	DENND5A	NM_015213.4(DENND5A):c.1458G>A:p.Leu486=	coding	Benign
11	9264989	C	A	C9264989A	DENND5A	NM_015213.4(DENND5A):c.81G>T:p.Glu27Asp	coding	Benign
11	9478591	A	G	A9478591G	ZNF143	NM_003442.6(ZNF143):c.570+5A>G	noncoding	Benign
11	9497751	A	G	A9497751G	ZNF143	NM_003442.6(ZNF143):c.918A>G:p.Lys306=	coding	Benign
11	9512454	G	A	G9512454A	ZNF143	NM_003442.6(ZNF143):c.1382G>A:p.Gly461Asp	coding	Benign
11	9575939	G	T	G9575939T	WEE1	NM_003390.4(WEE1):c.628G>T:p.Gly210Cys	coding	Benign
11	9778799	T	G	T9778799G	SBF2	NM_030962.3(SBF2):c.*1619A>C	noncoding	Benign
11	9778903	C	T	C9778903T	SBF2	NM_030962.3(SBF2):c.*1515G>A	noncoding	Benign
11	9779005	T	C	T9779005C	SBF2	NM_030962.3(SBF2):c.*1413A>G	noncoding	Benign
11	9779019	A	G	A9779019G	SBF2	NM_030962.3(SBF2):c.*1399T>C	noncoding	Benign
11	9779054	G	A	G9779054A	SBF2	NM_030962.3(SBF2):c.*1364C>T	noncoding	Benign
11	9779274	T	C	T9779274C	SBF2	NM_030962.3(SBF2):c.*1144A>G	noncoding	Benign
11	9779904	G	A	G9779904A	SBF2	NM_030962.3(SBF2):c.*514C>T	noncoding	Benign
11	9780127	G	A	G9780127A	SBF2	NM_030962.3(SBF2):c.*291C>T	noncoding	Benign
11	9780241	T	G	T9780241G	SBF2	NM_030962.3(SBF2):c.*177A>C	noncoding	Benign
11	9780367	A	G	A9780367G	SBF2	NM_030962.3(SBF2):c.*51T>C	noncoding	Benign
11	9780378	T	G	T9780378G	SBF2	NM_030962.3(SBF2):c.*40A>C	noncoding	Benign
11	9780681	G	C	G9780681C	SBF2	NM_030962.3(SBF2):c.5452-165C>G	noncoding	Benign
11	9781405	A	C	A9781405C	SBF2	NM_030962.3(SBF2):c.5451+102T>G	noncoding	Benign
11	9781847	T	C	T9781847C	SBF2	NM_030962.3(SBF2):c.5320-209A>G	noncoding	Benign
11	9785153	G	A	G9785153A	SBF2	NM_030962.3(SBF2):c.5203C>T:p.Gln1735Ter	coding	Pathogenic
11	9785301	C	T	C9785301T	SBF2	NM_030962.3(SBF2):c.5055G>A:p.Ser1685=	coding	Benign/Likely_benign
11	9787633	C	T	C9787633T	SBF2	NM_030962.3(SBF2):c.5037+1G>A	noncoding	Pathogenic
11	9787753	A	G	A9787753G	SBF2	NM_030962.3(SBF2):c.4933-15T>C	noncoding	Benign
11	9787953	C	T	C9787953T	SBF2	NM_030962.3(SBF2):c.4933-215G>A	noncoding	Benign
11	9789044	G	A	G9789044A	SBF2	NM_030962.3(SBF2):c.4932+65C>T	noncoding	Benign
11	9789492	C	A	C9789492A	SBF2	NM_030962.3(SBF2):c.4699-150G>T	noncoding	Benign
11	9790561	T	C	T9790561C	SBF2	NM_030962.3(SBF2):c.4693A>G:p.Ile1565Val	coding	Benign/Likely_benign
11	9790689	G	A	G9790689A	SBF2	NM_030962.3(SBF2):c.4571-6C>T	noncoding	Benign
11	9795868	T	C	T9795868C	SBF2	NM_030962.3(SBF2):c.4533A>G:p.Thr1511=	coding	Benign/Likely_benign
11	9807776	G	C	G9807776C	SBF2	NM_030962.3(SBF2):c.4443+224C>G	noncoding	Benign
11	9807999	C	T	C9807999T	SBF2	NM_030962.3(SBF2):c.4443+1G>A	coding	Pathogenic
11	9808128	G	A	G9808128A	SBF2	NM_030962.3(SBF2):c.4315C>T:p.Gln1439Ter	coding	Pathogenic
11	9809048	G	A	G9809048A	SBF2	NM_030962.3(SBF2):c.4156-46C>T	coding	Benign
11	9809185	A	T	A9809185T	SBF2	NM_030962.3(SBF2):c.4156-183T>A	coding	Benign
11	9812441	A	G	A9812441G	SBF2	NM_030962.3(SBF2):c.4155+91T>C	noncoding	Benign
11	9812559	C	T	C9812559T	SBF2	NM_030962.3(SBF2):c.4128G>A:p.Ala1376=	coding	Benign/Likely_benign
11	9812576	C	G	C9812576G	SBF2	NM_030962.3(SBF2):c.4111G>C:p.Val1371Leu	coding	Benign/Likely_benign
11	9812591	G	A	G9812591A	SBF2	NM_030962.3(SBF2):c.4096C>T:p.Pro1366Ser	coding	Benign/Likely_benign
11	9812856	A	G	A9812856G	SBF2	NM_030962.3(SBF2):c.3979-148T>C	noncoding	Benign
11	9812881	C	G	C9812881G	SBF2	NM_030962.3(SBF2):c.3979-173G>C	noncoding	Benign
11	9816688	A	G	A9816688G	SBF2	NM_030962.3(SBF2):c.3978+152T>C	noncoding	Benign
11	9817044	G	A	G9817044A	SBF2	NM_030962.3(SBF2):c.3794-20C>T	noncoding	Benign
11	9829729	G	A	G9829729A	SBF2	NM_030962.3(SBF2):c.3653-233C>T	noncoding	Benign
11	9829784	C	T	C9829784T	SBF2	NM_030962.3(SBF2):c.3653-288G>A	noncoding	Benign
11	9832230	G	C	G9832230C	SBF2	NM_030962.3(SBF2):c.3646C>G:p.Gln1216Glu	coding	Benign
11	9832290	G	A	G9832290A	SBF2	NM_030962.3(SBF2):c.3586C>T:p.Arg1196Ter	coding	Pathogenic
11	9832350	G	A	G9832350A	SBF2	NM_030962.3(SBF2):c.3526C>T:p.Arg1176Ter	coding	Pathogenic
11	9832565	A	G	A9832565G	SBF2	NM_030962.3(SBF2):c.3456-145T>C	noncoding	Benign
11	9839462	G	A	G9839462A	SBF2	NM_030962.3(SBF2):c.3455+36C>T	noncoding	Benign
11	9839661	G	C	G9839661C	SBF2	NM_030962.3(SBF2):c.3292C>G:p.Leu1098Val	coding	Benign/Likely_benign
11	9842380	A	C	A9842380C	SBF2	NM_030962.3(SBF2):c.3256+245T>G	noncoding	Benign
11	9842776	A	G	A9842776G	SBF2	NM_030962.3(SBF2):c.3111-6T>C	noncoding	Benign
11	9842881	G	C	G9842881C	SBF2	NM_030962.3(SBF2):c.3111-111C>G	noncoding	Benign
11	9845639	G	A	G9845639A	SBF2	NM_030962.3(SBF2):c.3036C>T:p.Thr1012=	coding	Benign/Likely_benign
11	9847015	G	A	G9847015A	SBF2	NM_030962.3(SBF2):c.2875C>T:p.Gln959Ter	coding	Pathogenic
11	9847040	G	A	G9847040A	SBF2	NM_030962.3(SBF2):c.2850C>T:p.Ile950=	coding	Benign
11	9850161	G	A	G9850161A	SBF2	NM_030962.3(SBF2):c.2668C>T:p.Arg890Ter	coding	Pathogenic
11	9852958	T	G	T9852958G	SBF2	NM_030962.3(SBF2):c.2537-209A>C	noncoding	Benign
11	9853539	C	T	C9853539T	SBF2	NM_030962.3(SBF2):c.2536+1G>A	noncoding	Pathogenic
11	9853806	G	T	G9853806T	SBF2	NM_030962.3(SBF2):c.2364-94C>A	noncoding	Benign
11	9853972	T	C	T9853972C	SBF2	NM_030962.3(SBF2):c.2364-260A>G	noncoding	Benign
11	9856484	G	A	G9856484A	SBF2	NM_030962.3(SBF2):c.2337C>T:p.Ser779=	coding	Benign/Likely_benign
11	9856498	C	T	C9856498T	SBF2	NM_030962.3(SBF2):c.2323G>A:p.Gly775Ser	coding	Benign/Likely_benign
11	9858291	C	T	C9858291T	SBF2	NM_030962.3(SBF2):c.2035G>A:p.Glu679Lys	coding	Benign
11	9858375	G	A	G9858375A	SBF2	NM_030962.3(SBF2):c.1951C>T:p.Gln651Ter	coding	Pathogenic
11	9895675	C	T	C9895675T	SBF2	NM_030962.3(SBF2):c.1929+268G>A	noncoding	Benign
11	9896073	G	C	G9896073C	SBF2	NM_030962.3(SBF2):c.1861-62C>G	noncoding	Benign
11	9962190	C	T	C9962190T	SBF2	NM_030962.3(SBF2):c.1711-84G>A	noncoding	Benign
11	9968482	G	A	G9968482A	SBF2	NM_030962.3(SBF2):c.1459C>T:p.Arg487Ter	coding	Pathogenic
11	9992538	T	C	T9992538C	SBF2	NM_030962.3(SBF2):c.1173A>G:p.Ala391=	coding	Benign
11	9992916	G	A	G9992916A	SBF2	NM_030962.3(SBF2):c.1167+74C>T	noncoding	Benign
11	9993919	A	G	A9993919G	SBF2	NM_030962.3(SBF2):c.1053+2T>C	noncoding	Pathogenic
11	9998332	G	A	G9998332A	SBF2	NM_030962.3(SBF2):c.909C>T:p.Pro303=	coding	Benign
11	10001038	A	T	A10001038T	SBF2	NM_030962.3(SBF2):c.753-16T>A	noncoding	Benign
11	10002664	A	G	A10002664G	SBF2	NM_030962.3(SBF2):c.645T>C:p.Phe215=	coding	Benign
11	10028523	A	T	A10028523T	SBF2	NM_030962.3(SBF2):c.548T>A:p.Leu183Ter	coding	Pathogenic
11	10028610	T	A	T10028610A	SBF2	NM_030962.3(SBF2):c.514-53A>T	noncoding	Benign
11	10029748	C	G	C10029748G	SBF2	NM_030962.3(SBF2):c.513+17G>C	noncoding	Benign/Likely_benign
11	10193950	A	G	A10193950G	SBF2	NM_030962.3(SBF2):c.93T>C:p.Phe31=	coding	Benign
11	10194051	C	T	C10194051T	SBF2	NM_030962.3(SBF2):c.56-64G>A	noncoding	Benign
11	10294187	C	A	C10294187A	SBF2	NM_030962.3(SBF2):c.-118G>T	noncoding	Benign
11	10306000	C	G	C10306000G	ADM	NM_001124.3(ADM):c.150C>G:p.Ser50Arg	coding	Benign
11	10306337	C	G	C10306337G	ADM	NM_001124.3(ADM):c.254C>G:p.Pro85Arg	coding	Benign
11	10455142	A	G	A10455142G	AMPD3	NM_000480.3(AMPD3):c.22+4099A>G	coding	Benign
11	10455151	C	T	C10455151T	AMPD3	NM_000480.3(AMPD3):c.22+4108C>T	coding	Benign
11	10455215	G	C	G10455215C	AMPD3	NM_000480.3(AMPD3):c.22+4172G>C	coding	Benign
11	10455351	T	C	T10455351C	AMPD3	NM_000480.3(AMPD3):c.22+4308T>C	coding	Benign
11	10455366	G	T	G10455366T	AMPD3	NM_000480.3(AMPD3):c.22+4323G>T	coding	Benign
11	10455372	T	G	T10455372G	AMPD3	NM_000480.3(AMPD3):c.22+4329T>G	coding	Benign
11	10478509	T	C	T10478509C	AMPD3	NM_000480.3(AMPD3):c.249-17T>C	noncoding	Benign
11	10482189	C	T	C10482189T	AMPD3	NM_000480.3(AMPD3):c.580C>T:p.Arg194Trp	coding	Benign/Likely_benign
11	10482209	G	A	G10482209A	AMPD3	NM_000480.3(AMPD3):c.600G>A:p.Pro200=	coding	Benign
11	10484899	C	T	C10484899T	AMPD3	NM_000480.3(AMPD3):c.696C>T:p.His232=	coding	Benign/Likely_benign
11	10493369	G	A	G10493369A	AMPD3	NM_000480.3(AMPD3):c.987G>A:p.Ala329=	coding	Benign/Likely_benign
11	10493476	G	A	G10493476A	AMPD3	NM_000480.3(AMPD3):c.1094G>A:p.Arg365Gln	coding	Benign
11	10493490	G	A	G10493490A	AMPD3	NM_000480.3(AMPD3):c.1108G>A:p.Gly370Ser	coding	Benign/Likely_benign
11	10493540	C	T	C10493540T	AMPD3	NM_000480.3(AMPD3):c.1158C>T:p.His386=	coding	Benign/Likely_benign
11	10495666	T	C	T10495666C	AMPD3	NM_000480.3(AMPD3):c.1390T>C:p.Tyr464His	coding	Benign
11	10496884	C	T	C10496884T	AMPD3	NM_000480.3(AMPD3):c.1530C>T:p.Phe510=	coding	Benign
11	10500217	T	C	T10500217C	AMPD3	NM_000480.3(AMPD3):c.1716T>C:p.Tyr572=	coding	Benign
11	10500245	C	T	C10500245T	AMPD3	NM_000480.3(AMPD3):c.1744C>T:p.Arg582Cys	coding	Pathogenic
11	10506578	A	G	A10506578G	AMPD3	NM_000480.3(AMPD3):c.*694A>G	noncoding	Benign
11	10506936	A	G	A10506936G	AMPD3	NM_000480.3(AMPD3):c.*1052A>G	noncoding	Benign
11	10506954	A	G	A10506954G	AMPD3	NM_000480.3(AMPD3):c.*1070A>G	noncoding	Benign
11	10506974	A	G	A10506974G	AMPD3	NM_000480.3(AMPD3):c.*1090A>G	noncoding	Benign
11	10507469	G	A	G10507469A	AMPD3	NM_000480.3(AMPD3):c.*1585G>A	noncoding	Benign
11	10606732	A	C	A10606732C	IRAG1	NM_130385.3(IRAG1):c.1602+10T>G	noncoding	Benign
11	10626121	G	A	G10626121A	IRAG1	NM_130385.3(IRAG1):c.1213C>T:p.Arg405Trp	coding	Benign
11	10626251	C	G	C10626251G	IRAG1	NM_130385.3(IRAG1):c.1083G>C:p.Gln361His	coding	Benign
11	10652141	C	T	C10652141T	IRAG1	NM_130385.3(IRAG1):c.109G>A:p.Ala37Thr	coding	Benign
11	10768070	A	G	A10768070G	CTR9	NM_014633.5(CTR9):c.1873-4A>G	noncoding	Benign
11	10768467	G	A	G10768467A	CTR9	NM_014633.5(CTR9):c.2085G>A:p.Lys695=	coding	Benign
11	10800334	T	C	T10800334C	EIF4G2	NM_001418.4(EIF4G2):c.1875A>G:p.Val625=	coding	Benign
11	11948540	T	G	T11948540G	USP47	NM_001282659.2(USP47):c.3330T>G:p.Leu1110=	coding	Benign
11	11964597	T	C	T11964597C	DKK3	NM_015881.5(DKK3):c.920A>G:p.Glu307Gly	coding	Benign
11	12002374	T	C	T12002374C	DKK3	NM_015881.5(DKK3):c.277A>G:p.Ser93Gly	coding	Benign
11	12224808	G	A	G12224808A	MICAL2	NM_014632.4(MICAL2):c.1676G>A:p.Arg559Gln	coding	Benign
11	12227043	A	G	A12227043G	MICAL2	NM_014632.4(MICAL2):c.1907A>G:p.Tyr636Cys	coding	Benign
11	12259806	A	G	A12259806G	MICAL2	NM_014632.4(MICAL2):c.3243A>G:p.Thr1081=	coding	Benign
11	12259880	T	C	T12259880C	MICAL2	NM_014632.4(MICAL2):c.3317T>C:p.Leu1106Pro	coding	Benign
11	12883101	C	T	C12883101T	TEAD1	NM_021961.6(TEAD1):c.675C>T:p.Leu225=	coding	Benign/Likely_benign
11	12937202	T	C	T12937202C	TEAD1	NM_021961.6(TEAD1):c.1261T>C:p.Tyr421His	coding	Pathogenic
11	13354314	A	T	A13354314T	ARNTL	NM_001297719.1(ARNTL):c.6A>T:p.Ala2=	coding	Benign
11	13356772	T	C	T13356772C	ARNTL	NM_001297719.1(ARNTL):c.174T>C:p.His58=	coding	Benign
11	13492086	T	C	T13492086C	PTH	NM_000315.4(PTH):c.*319A>G	noncoding	Benign
11	13492354	T	C	T13492354C	PTH	NM_000315.4(PTH):c.*51A>G	noncoding	Benign
11	13492477	C	T	C13492477T	PTH	NM_000315.4(PTH):c.276G>A:p.Glu92=	coding	Benign
11	13492506	G	A	G13492506A	PTH	NM_000315.4(PTH):c.247C>T:p.Arg83Ter	coding	Pathogenic
11	13492506	G	T	G13492506T	PTH	NM_000315.4(PTH):c.247C>A:p.Arg83=	coding	Benign
11	13492761	A	C	A13492761C	PTH	NM_000315.4(PTH):c.86+9T>G	noncoding	Benign
11	13492787	C	T	C13492787T	PTH	NM_000315.4(PTH):c.69G>A:p.Ser23=	coding	Benign
11	13492789	A	G	A13492789G	PTH	NM_000315.4(PTH):c.67T>C:p.Ser23Pro	coding	Pathogenic
11	13492804	A	G	A13492804G	PTH	NM_000315.4(PTH):c.52T>C:p.Cys18Arg	coding	Pathogenic
11	13492870	C	T	C13492870T	PTH	NM_000315.4(PTH):c.-5-10G>A	noncoding	Benign
11	13694928	C	T	C13694928T	FAR1	NM_032228.6(FAR1):c.163C>T:p.Arg55Ter	coding	Pathogenic
11	13694940	G	A	G13694940A	FAR1	NM_032228.6(FAR1):c.175G>A:p.Val59Ile	coding	Benign
11	13700312	G	T	G13700312T	FAR1	NM_032228.6(FAR1):c.190-5G>T	noncoding	Benign
11	13710702	T	C	T13710702C	FAR1	NM_032228.6(FAR1):c.555T>C:p.Asp185=	coding	Benign
11	13711946	C	T	C13711946T	FAR1	NM_032228.6(FAR1):c.787C>T:p.Arg263Ter	coding	Pathogenic
11	13712987	T	C	T13712987C	FAR1	NM_032228.6(FAR1):c.909T>C:p.Tyr303=	coding	Benign
11	13714647	A	G	A13714647G	FAR1	NM_032228.6(FAR1):c.1094A>G:p.Asp365Gly	coding	Pathogenic
11	13721720	T	C	T13721720C	FAR1	NM_032228.6(FAR1):c.1128-10T>C	noncoding	Benign
11	14294844	T	A	T14294844A	RRAS2	NM_012250.6(RRAS2):c.215A>T:p.Gln72Leu	coding	Pathogenic
11	14294851	C	T	C14294851T	RRAS2	NM_012250.6(RRAS2):c.208G>A:p.Ala70Thr	coding	Pathogenic
11	14358803	C	A	C14358803A	RRAS2	NM_012250.6(RRAS2):c.68G>T:p.Gly23Val	coding	Pathogenic
11	14507704	C	T	C14507704T	PSMA1	NM_148976.2(PSMA1):c.705G>A:p.Val235=	coding	Benign
11	14644840	T	G	T14644840G	PDE3B	NM_000922.4(PDE3B):c.765T>G:p.Ala255=	coding	Benign
11	14830855	T	C	T14830855C	PDE3B	NM_000922.4(PDE3B):c.1956+9T>C	noncoding	Benign
11	14859078	T	C	T14859078C	PDE3B	NM_000922.4(PDE3B):c.2556T>C:p.Asn852=	coding	Benign
11	14859183	T	C	T14859183C	PDE3B	NM_000922.4(PDE3B):c.2661T>C:p.Ile887=	coding	Benign
11	14859255	T	C	T14859255C	PDE3B	NM_000922.4(PDE3B):c.2724+9T>C	noncoding	Benign
11	14861210	T	C	T14861210C	PDE3B	NM_000922.4(PDE3B):c.2730T>C:p.Asn910=	coding	Benign
11	14867662	G	A	G14867662A	PDE3B	NM_000922.4(PDE3B):c.3043G>A:p.Glu1015Lys	coding	Benign
11	14869468	A	G	A14869468G	PDE3B	NM_000922.4(PDE3B):c.3147A>G:p.Pro1049=	coding	Benign
11	14869595	G	C	G14869595C	PDE3B	NM_000922.4(PDE3B):c.3274G>C:p.Glu1092Gln	coding	Benign
11	14879168	G	A	G14879168A	CYP2R1	NM_024514.4(CYP2R1):c.1276C>T:p.Leu426=	coding	Benign
11	14880485	A	G	A14880485G	CYP2R1	NM_024514.4(CYP2R1):c.651T>C:p.Asn217=	coding	Benign
11	14880761	G	A	G14880761A	CYP2R1	NM_024514.4(CYP2R1):c.375C>T:p.Leu125=	coding	Benign
11	14885775	C	T	C14885775T	CYP2R1	NM_024514.5(CYP2R1):c.367+1G>A	noncoding	Pathogenic
11	14968847	C	T	C14968847T	CALCA	NM_001741.3(CALCA):c.378G>A:p.Leu126=	coding	Benign
11	14968907	G	A	G14968907A	CALCA	NM_001741.3(CALCA):c.318C>T:p.Phe106=	coding	Benign
11	15200836	G	A	G15200836A	INSC	NM_001042536.3(INSC):c.706G>A:p.Val236Ile	coding	Benign
11	15986412	A	T	A15986412T	SOX6	NM_033326.3(SOX6):c.1915T>A:p.Trp639Arg	coding	Pathogenic
11	15989089	A	G	A15989089G	SOX6	NM_033326.3(SOX6):c.1814T>C:p.Met605Thr	coding	Pathogenic
11	16318649	G	C	G16318649C	SOX6	NM_033326.3(SOX6):c.242C>G:p.Ser81Ter	coding	Pathogenic
11	16791004	C	T	C16791004T	PLEKHA7	NM_001329630.2(PLEKHA7):c.2934+7G>A	noncoding	Benign
11	16817094	G	A	G16817094A	PLEKHA7	NM_001329630.2(PLEKHA7):c.1572C>T:p.Tyr524=	coding	Benign
11	16817211	C	T	C16817211T	PLEKHA7	NM_001329630.2(PLEKHA7):c.1455G>A:p.Ser485=	coding	Benign
11	16841663	G	C	G16841663C	PLEKHA7	NM_001329630.2(PLEKHA7):c.756C>G:p.Ala252=	coding	Benign
11	16851275	C	G	C16851275G	PLEKHA7	NM_001329630.2(PLEKHA7):c.612G>C:p.Ala204=	coding	Benign
11	17014159	C	T	C17014159T	PLEKHA7	NM_001329630.2(PLEKHA7):c.129G>A:p.Gly43=	coding	Benign
11	17136573	C	T	C17136573T	PIK3C2A	NM_001321378.2(PIK3C2A):c.1757G>A:p.Ser586Asn	coding	Benign
11	17145862	C	A	C17145862A	PIK3C2A	NM_002645.4(PIK3C2A):c.1640+1G>T	noncoding	Pathogenic
11	17168713	T	C	T17168713C	PIK3C2A	NM_001321378.2(PIK3C2A):c.1029A>G:p.Thr343=	coding	Benign
11	17386478	A	G	A17386478G	KCNJ11	NM_000525.3(KCNJ11):c.*441T>C	noncoding	Benign
11	17386857	C	T	C17386857T	KCNJ11	NM_000525.3(KCNJ11):c.*62G>A	noncoding	Benign
11	17387003	T	C	T17387003C	KCNJ11	NM_000525.3(KCNJ11):c.1089A>G:p.Ser363=	coding	Benign/Likely_benign
11	17387083	C	T	C17387083T	KCNJ11	NM_000525.3(KCNJ11):c.1009G>A:p.Val337Ile	coding	Benign/Likely_benign
11	17387103	T	C	T17387103C	KCNJ11	NM_000525.3(KCNJ11):c.989A>G:p.Tyr330Cys	coding	Pathogenic
11	17387104	A	G	A17387104G	KCNJ11	NM_000525.3(KCNJ11):c.988T>C:p.Tyr330His	coding	Pathogenic
11	17387128	C	T	C17387128T	KCNJ11	NM_000525.3(KCNJ11):c.964G>A:p.Glu322Lys	coding	Pathogenic
11	17387206	T	C	T17387206C	KCNJ11	NM_000525.3(KCNJ11):c.886A>G:p.Ile296Val	coding	Pathogenic
11	17387206	T	G	T17387206G	KCNJ11	NM_000525.3(KCNJ11):c.886A>C:p.Ile296Leu	coding	Pathogenic
11	17387211	G	A	G17387211A	KCNJ11	NM_000525.3(KCNJ11):c.881C>T:p.Thr294Met	coding	Pathogenic
11	17387240	G	T	G17387240T	KCNJ11	NM_000525.3(KCNJ11):c.852C>A:p.Ile284=	coding	Benign
11	17387248	C	T	C17387248T	KCNJ11	NM_000525.3(KCNJ11):c.844G>A:p.Glu282Lys	coding	Pathogenic/Likely_pathogenic
11	17387284	G	C	G17387284C	KCNJ11	NM_000525.3(KCNJ11):c.808C>G:p.Leu270Val	coding	Benign/Likely_benign
11	17387316	T	C	T17387316C	KCNJ11	NM_000525.3(KCNJ11):c.776A>G:p.His259Arg	coding	Pathogenic
11	17387331	G	A	G17387331A	KCNJ11	NM_000525.3(KCNJ11):c.761C>T:p.Pro254Leu	coding	Pathogenic
11	17387407	C	T	C17387407T	KCNJ11	NM_000525.3(KCNJ11):c.685G>A:p.Glu229Lys	coding	Pathogenic
11	17387413	C	T	C17387413T	KCNJ11	NM_000525.3(KCNJ11):c.679G>A:p.Glu227Lys	coding	Pathogenic
11	17387490	C	A	C17387490A	KCNJ11	NM_000525.3(KCNJ11):c.602G>T:p.Arg201Leu	coding	Pathogenic
11	17387490	C	T	C17387490T	KCNJ11	NM_000525.3(KCNJ11):c.602G>A:p.Arg201His	coding	Pathogenic
11	17387491	G	A	G17387491A	KCNJ11	NM_000525.3(KCNJ11):c.601C>T:p.Arg201Cys	coding	Pathogenic
11	17387522	G	A	G17387522A	KCNJ11	NM_000525.3(KCNJ11):c.570C>T:p.Ala190=	coding	Benign/Likely_benign
11	17387571	G	C	G17387571C	KCNJ11	NM_000525.3(KCNJ11):c.521C>G:p.Ala174Gly	coding	Pathogenic
11	17387582	C	G	C17387582G	KCNJ11	NM_000525.3(KCNJ11):c.510G>C:p.Lys170Asn	coding	Pathogenic
11	17387583	T	C	T17387583C	KCNJ11	NM_000525.3(KCNJ11):c.509A>G:p.Lys170Arg	coding	Pathogenic
11	17387595	C	A	C17387595A	KCNJ11	NM_000525.3(KCNJ11):c.497G>T:p.Cys166Phe	coding	Pathogenic
11	17387595	C	T	C17387595T	KCNJ11	NM_000525.3(KCNJ11):c.497G>A:p.Cys166Tyr	coding	Pathogenic
11	17387626	C	T	C17387626T	KCNJ11	NM_000525.3(KCNJ11):c.466G>A:p.Gly156Arg	coding	Pathogenic
11	17387652	A	G	A17387652G	KCNJ11	NM_000525.3(KCNJ11):c.440T>C:p.Leu147Pro	coding	Pathogenic
11	17387686	G	A	G17387686A	KCNJ11	NM_000525.3(KCNJ11):c.406C>T:p.Arg136Cys	coding	Pathogenic
11	17387783	G	A	G17387783A	KCNJ11	NM_000525.3(KCNJ11):c.309C>T:p.Ser103=	coding	Benign
11	17387913	A	T	A17387913T	KCNJ11	NM_001166290.2(KCNJ11):c.-16-67T>A	coding	Pathogenic
11	17387916	A	C	A17387916C	KCNJ11	NM_000525.3(KCNJ11):c.176T>G:p.Val59Gly	coding	Pathogenic
11	17387917	C	T	C17387917T	KCNJ11	NM_000525.3(KCNJ11):c.175G>A:p.Val59Met	coding	Pathogenic
11	17387935	C	G	C17387935G	KCNJ11	NM_000525.3(KCNJ11):c.157G>C:p.Gly53Arg	coding	Pathogenic
11	17387935	C	T	C17387935T	KCNJ11	NM_000525.3(KCNJ11):c.157G>A:p.Gly53Ser	coding	Pathogenic
11	17387943	C	G	C17387943G	KCNJ11	NM_000525.3(KCNJ11):c.149G>C:p.Arg50Pro	coding	Pathogenic
11	17387943	C	T	C17387943T	KCNJ11	NM_000525.3(KCNJ11):c.149G>A:p.Arg50Gln	coding	Pathogenic/Likely_pathogenic
11	17387968	A	G	A17387968G	KCNJ11	NM_000525.3(KCNJ11):c.124T>C:p.Cys42Arg	coding	Pathogenic
11	17387989	A	C	A17387989C	KCNJ11	NM_000525.3(KCNJ11):c.103T>G:p.Phe35Val	coding	Pathogenic
11	17388056	G	T	G17388056T	KCNJ11	NM_001166290.2(KCNJ11):c.-16-210C>A	coding	Pathogenic
11	17388064	C	T	C17388064T	KCNJ11	NM_000525.3(KCNJ11):c.28G>A:p.Glu10Lys	coding	Benign
11	17388084	G	C	G17388084C	KCNJ11	NM_000525.3(KCNJ11):c.8C>G:p.Ser3Cys	coding	Pathogenic
11	17388225	C	A	C17388225A	KCNJ11	NM_000525.3(KCNJ11):c.-134G>T	noncoding	Pathogenic
11	17393009	G	A	G17393009A	KCNJ11;ABCC8	NM_000352.6(ABCC8):c.4728C>T:p.Phe1576=	coding	Benign/Likely_benign
11	17393023	C	T	C17393023T	ABCC8;KCNJ11	NM_000352.6(ABCC8):c.4714G>A:p.Val1572Ile	coding	Benign/Likely_benign
11	17393034	C	T	C17393034T	ABCC8	NM_000352.6(ABCC8):c.4703G>A:p.Arg1568Gln	coding	Benign
11	17393081	C	T	C17393081T	ABCC8	NM_000352.6(ABCC8):c.4656G>A:p.Lys1552=	coding	Benign
11	17393109	A	G	A17393109G	ABCC8	NM_000352.6(ABCC8):c.4628T>C:p.Leu1543Pro	coding	Pathogenic/Likely_pathogenic
11	17393124	C	T	C17393124T	ABCC8	NM_000352.6(ABCC8):c.4613G>A:p.Arg1538Gln	coding	Pathogenic
11	17394295	C	T	C17394295T	ABCC8	NM_000352.6(ABCC8):c.4516G>A:p.Glu1506Lys	coding	Pathogenic
11	17394334	G	A	G17394334A	ABCC8	NM_000352.6(ABCC8):c.4477C>T:p.Arg1493Trp	coding	Pathogenic/Likely_pathogenic
11	17394361	C	T	C17394361T	ABCC8	NM_000352.6(ABCC8):c.4450G>A:p.Gly1484Arg	coding	Pathogenic
11	17394379	C	T	C17394379T	ABCC8	NM_000352.6(ABCC8):c.4432G>A:p.Gly1478Arg	coding	Pathogenic/Likely_pathogenic
11	17395277	T	C	T17395277C	ABCC8	NM_001287174.2(ABCC8):c.4311-2A>G	noncoding	Pathogenic
11	17395610	C	T	C17395610T	ABCC8	NM_000352.6(ABCC8):c.4307G>A:p.Arg1436Gln	coding	Pathogenic
11	17395611	G	A	G17395611A	ABCC8	NM_000352.6(ABCC8):c.4306C>T:p.Arg1436Ter	coding	Pathogenic/Likely_pathogenic
11	17395647	T	C	T17395647C	ABCC8	NM_000352.6(ABCC8):c.4270A>G:p.Ile1424Val	coding	Pathogenic
11	17395659	G	A	G17395659A	ABCC8	NM_000352.6(ABCC8):c.4258C>T:p.Arg1420Cys	coding	Pathogenic/Likely_pathogenic
11	17395664	C	T	C17395664T	ABCC8	NM_000352.6(ABCC8):c.4253G>A:p.Arg1418His	coding	Pathogenic/Likely_pathogenic
11	17395876	A	C	A17395876C	ABCC8	NM_000352.6(ABCC8):c.4174T>G:p.Phe1392Val	coding	Pathogenic
11	17395893	G	A	G17395893A	ABCC8	NM_000352.6(ABCC8):c.4157C>T:p.Ser1386Phe	coding	Pathogenic
11	17395915	G	A	G17395915A	ABCC8	NM_000352.6(ABCC8):c.4135C>T:p.Arg1379Cys	coding	Pathogenic
11	17396898	T	C	T17396898C	ABCC8	NM_001287174.2(ABCC8):c.4122+18A>G	noncoding	Benign
11	17396915	C	T	C17396915T	ABCC8	NM_001287174.2(ABCC8):c.4122+1G>A	noncoding	Pathogenic
11	17396930	C	A	C17396930A	ABCC8	NM_000352.6(ABCC8):c.4105G>T:p.Ala1369Ser	coding	Benign
11	17396980	C	G	C17396980G	ABCC8	NM_000352.6(ABCC8):c.4055G>C:p.Arg1352Pro	coding	Pathogenic
11	17396980	C	T	C17396980T	ABCC8	NM_000352.6(ABCC8):c.4055G>A:p.Arg1352His	coding	Pathogenic
11	17397263	G	C	G17397263C	ABCC8	NM_000352.6(ABCC8):c.3918C>G:p.Leu1306=	coding	Benign
11	17397314	C	T	C17397314T	ABCC8	NM_001287174.2(ABCC8):c.3871-1G>A	coding	Pathogenic
11	17397732	C	T	C17397732T	ABCC8	NM_000352.6(ABCC8):c.3819G>A:p.Arg1273=	coding	Benign
11	17398344	G	A	G17398344A	ABCC8	NM_000352.6(ABCC8):c.3748C>T:p.Arg1250Ter	coding	Pathogenic
11	17402670	C	T	C17402670T	ABCC8	NM_000352.6(ABCC8):c.3641G>A:p.Arg1214Gln	coding	Pathogenic
11	17402671	G	A	G17402671A	ABCC8	NM_000352.6(ABCC8):c.3640C>T:p.Arg1214Trp	coding	Pathogenic/Likely_pathogenic
11	17402699	G	A	G17402699A	ABCC8	NM_000352.6(ABCC8):c.3612C>T:p.Ala1204=	coding	Benign
11	17402718	G	A	G17402718A	ABCC8	NM_000352.6(ABCC8):c.3593C>T:p.Pro1198Leu	coding	Pathogenic
11	17404515	G	T	G17404515T	ABCC8	NM_000352.6(ABCC8):c.3554C>A:p.Ser1185Tyr	coding	Pathogenic
11	17404524	C	T	C17404524T	ABCC8	NM_000352.6(ABCC8):c.3545G>A:p.Arg1182Gln	coding	Pathogenic/Likely_pathogenic
11	17404525	G	A	G17404525A	ABCC8	NM_000352.6(ABCC8):c.3544C>T:p.Arg1182Trp	coding	Pathogenic
11	17404630	G	A	G17404630A	ABCC8	NM_000352.6(ABCC8):c.3439C>T:p.Leu1147=	coding	Benign
11	17404634	G	A	G17404634A	ABCC8	NM_000352.6(ABCC8):c.3435C>T:p.Ser1145=	coding	Benign/Likely_benign
11	17406616	G	A	G17406616A	ABCC8	NM_001287174.2(ABCC8):c.3332+6C>T	noncoding	Benign/Likely_benign
11	17406943	C	T	C17406943T	ABCC8	NM_000352.6(ABCC8):c.3107G>A:p.Trp1036Ter	coding	Pathogenic
11	17407011	C	T	C17407011T	ABCC8	NM_000352.6(ABCC8):c.3039G>A:p.Ser1013=	coding	Benign
11	17407050	G	A	G17407050A	ABCC8	NM_000352.6(ABCC8):c.3000C>T:p.Cys1000=	coding	Benign
11	17407079	G	A	G17407079A	ABCC8	NM_000352.6(ABCC8):c.2971C>T:p.Gln991Ter	coding	Pathogenic
11	17407417	G	A	G17407417A	ABCC8	NM_000352.6(ABCC8):c.2857C>T:p.Gln953Ter	coding	Pathogenic/Likely_pathogenic
11	17408375	T	C	T17408375C	ABCC8	NM_001287174.2(ABCC8):c.2823+17A>G	noncoding	Benign
11	17408415	G	A	G17408415A	ABCC8	NM_000352.6(ABCC8):c.2797C>T:p.Arg933Ter	coding	Pathogenic/Likely_pathogenic
11	17408448	G	A	G17408448A	ABCC8	NM_000352.6(ABCC8):c.2764C>T:p.Gln922Ter	coding	Pathogenic
11	17408518	C	G	C17408518G	ABCC8	NM_001287174.2(ABCC8):c.2698-1G>C	coding	Pathogenic
11	17408519	T	A	T17408519A	ABCC8	NM_001287174.2(ABCC8):c.2698-2A>T	noncoding	Pathogenic
11	17410653	C	T	C17410653T	ABCC8	NM_000352.6(ABCC8):c.2557G>A:p.Asp853Asn	coding	Pathogenic
11	17412684	G	A	G17412684A	ABCC8	NM_000352.6(ABCC8):c.2538C>T:p.His846=	coding	Benign/Likely_benign
11	17412716	G	A	G17412716A	ABCC8	NM_000352.6(ABCC8):c.2506C>T:p.Arg836Ter	coding	Pathogenic/Likely_pathogenic
11	17412737	G	A	G17412737A	ABCC8	NM_000352.6(ABCC8):c.2485C>T:p.Leu829=	coding	Benign
11	17414534	C	A	C17414534A	ABCC8;LOC110121471	NM_000352.6(ABCC8):c.2368G>T:p.Glu790Ter	coding	Pathogenic
11	17414611	C	T	C17414611T	ABCC8	NM_001287174.2(ABCC8):c.2295-1G>A	coding	Pathogenic
11	17415318	G	A	G17415318A	ABCC8	NM_000352.6(ABCC8):c.2277C>T:p.Thr759=	coding	Benign/Likely_benign
11	17416949	C	A	C17416949A	ABCC8	NM_000352.6(ABCC8):c.2236G>T:p.Glu746Ter	coding	Pathogenic
11	17427048	C	A	C17427048A	ABCC8	NM_001287174.2(ABCC8):c.2222+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	17427124	C	A	C17427124A	ABCC8	NM_000352.6(ABCC8):c.2147G>T:p.Gly716Val	coding	Pathogenic
11	17427155	C	T	C17427155T	ABCC8	NM_001287174.2(ABCC8):c.2117-1G>A	coding	Pathogenic
11	17427156	T	A	T17427156A	ABCC8	NM_000352.6(ABCC8):c.2117-2A>T	noncoding	Pathogenic
11	17427157	G	A	G17427157A	ABCC8	NM_001287174.2(ABCC8):c.2117-3C>T	noncoding	Benign
11	17427963	C	T	C17427963T	ABCC8	NM_001287174.2(ABCC8):c.2041-21G>A	noncoding	Pathogenic/Likely_pathogenic
11	17428382	C	T	C17428382T	ABCC8	NM_000352.6(ABCC8):c.1947G>A:p.Lys649=	coding	Benign
11	17428568	C	T	C17428568T	ABCC8	NM_000352.6(ABCC8):c.1920G>A:p.Ala640=	coding	Benign/Likely_benign
11	17430839	G	A	G17430839A	ABCC8	NM_000352.6(ABCC8):c.1792C>T:p.Arg598Ter	coding	Pathogenic
11	17430887	G	C	G17430887C	ABCC8	NM_000352.6(ABCC8):c.1744C>G:p.Leu582Val	coding	Pathogenic
11	17430945	G	A	G17430945A	ABCC8	NM_000352.6(ABCC8):c.1686C>T:p.His562=	coding	Benign
11	17430953	C	T	C17430953T	ABCC8	NM_000352.6(ABCC8):c.1678G>A:p.Val560Met	coding	Benign/Likely_benign
11	17442719	C	A	C17442719A	ABCC8	NM_001287174.2(ABCC8):c.1630+1G>T	noncoding	Pathogenic
11	17442778	C	T	C17442778T	ABCC8	NM_000352.6(ABCC8):c.1572G>A:p.Thr524=	coding	Benign/Likely_benign
11	17442814	G	T	G17442814T	ABCC8	NM_000352.6(ABCC8):c.1536C>A:p.Tyr512Ter	coding	Pathogenic
11	17443224	T	C	T17443224C	ABCC8	NM_000352.6(ABCC8):c.1421A>G:p.Gln474Arg	coding	Pathogenic
11	17444325	T	C	T17444325C	ABCC8	NM_000352.6(ABCC8):c.1333-1013A>G	noncoding	Pathogenic
11	17453117	A	G	A17453117G	ABCC8	NM_001287174.2(ABCC8):c.1176+2T>C	noncoding	Pathogenic
11	17453137	G	A	G17453137A	ABCC8	NM_000352.6(ABCC8):c.1158C>T:p.Asn386=	coding	Benign/Likely_benign
11	17453151	C	T	C17453151T	ABCC8	NM_000352.6(ABCC8):c.1144G>A:p.Glu382Lys	coding	Pathogenic
11	17460554	G	A	G17460554A	ABCC8	NM_000352.6(ABCC8):c.945C>T:p.Ala315=	coding	Benign
11	17461563	G	A	G17461563A	ABCC8	NM_001287174.2(ABCC8):c.822+20C>T	noncoding	Benign/Likely_benign
11	17461663	G	A	G17461663A	ABCC8	NM_000352.6(ABCC8):c.742C>T:p.Arg248Ter	coding	Pathogenic
11	17461710	C	T	C17461710T	ABCC8	NM_000352.6(ABCC8):c.695G>A:p.Trp232Ter	coding	Pathogenic
11	17461722	C	T	C17461722T	ABCC8	NM_000352.6(ABCC8):c.683G>A:p.Gly228Asp	coding	Pathogenic
11	17461731	A	G	A17461731G	ABCC8	NM_000352.6(ABCC8):c.674T>C:p.Leu225Pro	coding	Pathogenic
11	17461767	A	C	A17461767C	ABCC8	NM_000352.6(ABCC8):c.638T>G:p.Leu213Arg	coding	Pathogenic
11	17461774	G	T	G17461774T	ABCC8	NM_000352.6(ABCC8):c.631C>A:p.Gln211Lys	coding	Pathogenic
11	17461778	G	T	G17461778T	ABCC8	NM_000352.6(ABCC8):c.627C>A:p.Asp209Glu	coding	Pathogenic
11	17463424	G	A	G17463424A	ABCC8	NM_001287174.2(ABCC8):c.579+14C>T	noncoding	Benign
11	17463454	T	C	T17463454C	ABCC8	NM_000352.6(ABCC8):c.563A>G:p.Asn188Ser	coding	Pathogenic/Likely_pathogenic
11	17463457	A	T	A17463457T	ABCC8	NM_000352.6(ABCC8):c.560T>A:p.Val187Asp	coding	Pathogenic
11	17463521	G	A	G17463521A	ABCC8	NM_000352.6(ABCC8):c.496C>T:p.Gln166Ter	coding	Pathogenic
11	17463594	C	T	C17463594T	ABCC8	NM_000352.6(ABCC8):c.423G>A:p.Val141=	coding	Benign/Likely_benign
11	17470109	A	G	A17470109G	ABCC8	NM_000352.6(ABCC8):c.404T>C:p.Leu135Pro	coding	Pathogenic
11	17470119	A	C	A17470119C	ABCC8	NM_000352.6(ABCC8):c.394T>G:p.Phe132Val	coding	Pathogenic
11	17470119	A	G	A17470119G	ABCC8	NM_000352.6(ABCC8):c.394T>C:p.Phe132Leu	coding	Pathogenic
11	17470131	C	T	C17470131T	ABCC8	NM_000352.6(ABCC8):c.382G>A:p.Glu128Lys	coding	Pathogenic
11	17470182	C	T	C17470182T	ABCC8	NM_000352.6(ABCC8):c.331G>A:p.Gly111Arg	coding	Pathogenic/Likely_pathogenic
11	17470183	G	A	G17470183A	ABCC8	NM_000352.6(ABCC8):c.330C>T:p.Ala110=	coding	Benign
11	17474919	A	C	A17474919C	ABCC8	NM_000352.6(ABCC8):c.257T>G:p.Val86Gly	coding	Pathogenic
11	17474919	A	G	A17474919G	ABCC8	NM_000352.6(ABCC8):c.257T>C:p.Val86Ala	coding	Pathogenic
11	17474955	C	T	C17474955T	ABCC8	NM_000352.6(ABCC8):c.221G>A:p.Arg74Gln	coding	Pathogenic/Likely_pathogenic
11	17474956	G	A	G17474956A	ABCC8	NM_000352.6(ABCC8):c.220C>T:p.Arg74Trp	coding	Pathogenic/Likely_pathogenic
11	17474961	T	C	T17474961C	ABCC8	NM_000352.6(ABCC8):c.215A>G:p.Asn72Ser	coding	Pathogenic
11	17474969	A	G	A17474969G	ABCC8	NM_000352.6(ABCC8):c.207T>C:p.Pro69=	coding	Benign/Likely_benign
11	17475024	C	T	C17475024T	ABCC8	NM_000352.6(ABCC8):c.152G>A:p.Trp51Ter	coding	Pathogenic
11	17476643	G	A	G17476643A	ABCC8	NM_000352.6(ABCC8):c.134C>T:p.Pro45Leu	coding	Pathogenic
11	17476675	C	T	C17476675T	ABCC8	NM_000352.6(ABCC8):c.102G>A:p.Val34=	coding	Benign
11	17476705	G	T	G17476705T	ABCC8	NM_000352.6(ABCC8):c.72C>A:p.Asn24Lys	coding	Pathogenic
11	17476715	A	T	A17476715T	ABCC8	NM_000352.6(ABCC8):c.62T>A:p.Val21Asp	coding	Pathogenic
11	17476742	G	T	G17476742T	ABCC8	NM_000352.6(ABCC8):c.35C>A:p.Ser12Ter	coding	Pathogenic
11	17476825	C	G	C17476825G	ABCC8	NM_000352.6(ABCC8):c.-49G>C	noncoding	Benign
11	17476848	C	T	C17476848T	ABCC8	NM_000352.4(ABCC8):c.-72G>A	noncoding	Benign/Likely_benign
11	17476966	G	C	G17476966C	ABCC8	NM_000352.4(ABCC8):c.-190C>G	noncoding	Pathogenic
11	17477320	C	T	C17477320T	ABCC8	NM_000352.4(ABCC8):c.-544G>A	noncoding	Benign
11	17494121	T	C	T17494121C	USH1C	NM_153676.4(USH1C):c.*211A>G	noncoding	Benign
11	17494146	G	A	G17494146A	USH1C	NM_153676.4(USH1C):c.*186C>T	noncoding	Benign
11	17494286	A	G	A17494286G	USH1C	NM_153676.4(USH1C):c.*46T>C	noncoding	Benign
11	17494423	G	A	G17494423A	USH1C	NM_153676.4(USH1C):c.2656-47C>T	noncoding	Benign
11	17494482	A	G	A17494482G	USH1C	NM_153676.4(USH1C):c.2656-106T>C	noncoding	Benign
11	17494636	T	C	T17494636C	USH1C	NM_153676.4(USH1C):c.2656-260A>G	noncoding	Benign
11	17495633	C	T	C17495633T	USH1C	NM_153676.4(USH1C):c.2591G>A:p.Arg864Gln	coding	Benign/Likely_benign
11	17495685	T	C	T17495685C	USH1C	NM_153676.4(USH1C):c.2547-8A>G	noncoding	Benign/Likely_benign
11	17495688	A	G	A17495688G	USH1C	NM_153676.4(USH1C):c.2547-11T>C	noncoding	Benign
11	17495860	G	C	G17495860C	USH1C	NM_153676.4(USH1C):c.2547-183C>G	noncoding	Benign
11	17496805	G	A	G17496805A	USH1C	NM_153676.4(USH1C):c.2499C>T:p.Ile833=	coding	Benign/Likely_benign
11	17496814	C	A	C17496814A	USH1C	NM_153676.4(USH1C):c.2491-1G>T	coding	Pathogenic
11	17496978	G	T	G17496978T	USH1C	NM_153676.4(USH1C):c.2491-165C>A	noncoding	Benign
11	17498150	C	G	C17498150G	USH1C	NM_153676.4(USH1C):c.2490+12G>C	noncoding	Benign
11	17498164	C	T	C17498164T	USH1C	NM_153676.4(USH1C):c.2488G>A:p.Gly830Arg	coding	Benign
11	17498195	C	G	C17498195G	USH1C	NM_153676.4(USH1C):c.2457G>C:p.Glu819Asp	coding	Benign
11	17498251	C	A	C17498251A	USH1C	NM_153676.4(USH1C):c.2401G>T:p.Glu801Ter	coding	Pathogenic
11	17498317	C	T	C17498317T	USH1C	NM_153676.4(USH1C):c.2381-46G>A	noncoding	Benign
11	17501058	C	T	C17501058T	USH1C	NM_153676.4(USH1C):c.2373G>A:p.Glu791=	coding	Benign
11	17501084	C	A	C17501084A	USH1C	NM_153676.4(USH1C):c.2347G>T:p.Ala783Ser	coding	Benign
11	17501091	G	A	G17501091A	USH1C	NM_153676.4(USH1C):c.2340C>T:p.Val780=	coding	Benign
11	17501263	T	C	T17501263C	USH1C	NM_153676.4(USH1C):c.2281-113A>G	noncoding	Benign
11	17501453	G	A	G17501453A	USH1C	NM_153676.4(USH1C):c.2280+29C>T	noncoding	Benign
11	17501536	C	T	C17501536T	USH1C	NM_153676.4(USH1C):c.2227-1G>A	coding	Pathogenic
11	17501742	C	T	C17501742T	USH1C	NM_153676.4(USH1C):c.2226+197G>A	noncoding	Benign
11	17501927	G	A	G17501927A	USH1C	NM_153676.4(USH1C):c.2226+12C>T	noncoding	Benign
11	17504418	G	A	G17504418A	USH1C	NM_153676.4(USH1C):c.2184+229C>T	noncoding	Benign
11	17504635	G	A	G17504635A	USH1C	NM_153676.4(USH1C):c.2184+12C>T	noncoding	Benign
11	17504637	A	G	A17504637G	USH1C	NM_153676.4(USH1C):c.2184+10T>C	noncoding	Benign/Likely_benign
11	17504709	A	G	A17504709G	USH1C	NM_153676.4(USH1C):c.2134-12T>C	noncoding	Benign
11	17509365	G	T	G17509365T	USH1C	NM_153676.4(USH1C):c.2004C>A:p.Pro668=	coding	Benign/Likely_benign
11	17509497	C	T	C17509497T	USH1C	NM_153676.4(USH1C):c.1872G>A:p.Ser624=	coding	Benign
11	17509510	C	A	C17509510A	USH1C	NM_153676.4(USH1C):c.1859G>T:p.Arg620Leu	coding	Benign
11	17509599	G	A	G17509599A	USH1C	NM_153676.4(USH1C):c.1770C>T:p.Ala590=	coding	Benign
11	17509629	A	G	A17509629G	USH1C	NM_153676.4(USH1C):c.1740T>C:p.Pro580=	coding	Benign/Likely_benign
11	17509737	G	A	G17509737A	USH1C	NM_153676.4(USH1C):c.1632C>T:p.Asp544=	coding	Benign
11	17509902	G	T	G17509902T	USH1C	NM_153676.4(USH1C):c.1531-64C>A	noncoding	Benign
11	17510555	C	T	C17510555T	USH1C	NM_153676.4(USH1C):c.1414-34G>A	noncoding	Benign
11	17512088	G	A	G17512088A	USH1C	NM_153676.4(USH1C):c.1261-34C>T	noncoding	Benign
11	17516265	A	G	A17516265G	USH1C	NM_153676.4(USH1C):c.1236T>C:p.Asp412=	coding	Benign
11	17517415	C	A	C17517415A	USH1C	NM_153676.4(USH1C):c.1211-1125G>T	coding	Pathogenic
11	17517419	C	T	C17517419T	USH1C	NM_153676.4(USH1C):c.1211-1129G>A	coding	Benign/Likely_benign
11	17517424	C	T	C17517424T	USH1C	NM_153676.4(USH1C):c.1211-1134G>A	coding	Benign
11	17517442	C	T	C17517442T	USH1C	NM_153676.4(USH1C):c.1211-1152G>A	coding	Benign
11	17520892	T	C	T17520892C	USH1C	NM_153676.4(USH1C):c.1188A>G:p.Pro396=	coding	Benign
11	17520946	C	T	C17520946T	USH1C	NM_153676.4(USH1C):c.1134G>A:p.Trp378Ter	coding	Pathogenic
11	17521006	C	T	C17521006T	USH1C	NM_153676.4(USH1C):c.1086-12G>A	noncoding	Benign
11	17521036	C	T	C17521036T	USH1C	NM_153676.4(USH1C):c.1086-42G>A	noncoding	Benign
11	17521039	T	C	T17521039C	USH1C	NM_153676.4(USH1C):c.1086-45A>G	noncoding	Benign
11	17521102	T	C	T17521102C	USH1C	NM_153676.4(USH1C):c.1086-108A>G	noncoding	Benign
11	17521325	G	C	G17521325C	USH1C	NM_153676.4(USH1C):c.1085+21C>G	noncoding	Benign
11	17522779	C	G	C17522779G	USH1C	NM_153676.4(USH1C):c.1019+5G>C	noncoding	Pathogenic
11	17523409	C	G	C17523409G	USH1C	NM_153676.4(USH1C):c.819+10G>C	noncoding	Benign/Likely_benign
11	17523544	A	G	A17523544G	USH1C	NM_153676.4(USH1C):c.760-66T>C	noncoding	Benign
11	17523594	C	T	C17523594T	USH1C	NM_153676.4(USH1C):c.760-116G>A	noncoding	Benign
11	17524157	G	A	G17524157A	USH1C	NM_153676.4(USH1C):c.759+294C>T	noncoding	Benign
11	17524179	T	C	T17524179C	USH1C	NM_153676.4(USH1C):c.759+272A>G	noncoding	Benign
11	17524831	T	C	T17524831C	USH1C	NM_153676.4(USH1C):c.675-296A>G	noncoding	Benign
11	17526349	G	T	G17526349T	USH1C	NM_153676.4(USH1C):c.672C>A:p.Cys224Ter	coding	Pathogenic/Likely_pathogenic
11	17526370	T	C	T17526370C	USH1C	NM_153676.4(USH1C):c.651A>G:p.Val217=	coding	Benign
11	17526373	C	T	C17526373T	USH1C	NM_153676.4(USH1C):c.648G>A:p.Leu216=	coding	Benign/Likely_benign
11	17526393	T	A	T17526393A	USH1C	NM_153676.4(USH1C):c.628A>T:p.Lys210Ter	coding	Pathogenic
11	17526443	T	A	T17526443A	USH1C	NM_153676.4(USH1C):c.580-2A>T	noncoding	Pathogenic/Likely_pathogenic
11	17526468	C	T	C17526468T	USH1C	NM_153676.4(USH1C):c.580-27G>A	noncoding	Benign
11	17527202	C	A	C17527202A	USH1C	NM_153676.4(USH1C):c.496+21G>T	noncoding	Benign
11	17527210	T	C	T17527210C	USH1C	NM_153676.4(USH1C):c.496+13A>G	noncoding	Benign
11	17527222	C	A	C17527222A	USH1C	NM_153676.4(USH1C):c.496+1G>T	noncoding	Pathogenic
11	17527222	C	T	C17527222T	USH1C	NM_153676.4(USH1C):c.496+1G>A	noncoding	Pathogenic
11	17527331	C	T	C17527331T	USH1C	NM_153676.4(USH1C):c.388G>A:p.Val130Ile	coding	Benign
11	17531137	G	A	G17531137A	USH1C	NM_153676.4(USH1C):c.387+17C>T	noncoding	Benign
11	17531217	A	G	A17531217G	USH1C	NM_153676.4(USH1C):c.324T>C:p.Phe108=	coding	Benign
11	17531247	G	A	G17531247A	USH1C	NM_153676.4(USH1C):c.294C>T:p.Leu98=	coding	Benign
11	17531422	A	G	A17531422G	USH1C	NM_153676.4(USH1C):c.225T>C:p.Asp75=	coding	Benign
11	17531431	C	T	C17531431T	USH1C	NM_153676.4(USH1C):c.216G>A:p.Val72=	coding	Pathogenic
11	17531558	G	A	G17531558A	USH1C	NM_153676.4(USH1C):c.105-16C>T	noncoding	Benign
11	17533258	T	C	T17533258C	USH1C	NM_153676.4(USH1C):c.101A>G:p.His34Arg	coding	Benign/Likely_benign
11	17533268	G	A	G17533268A	USH1C	NM_153676.4(USH1C):c.91C>T:p.Arg31Ter	coding	Pathogenic
11	17533367	G	C	G17533367C	USH1C	NM_153676.4(USH1C):c.37-45C>G	noncoding	Benign
11	17533369	C	A	C17533369A	USH1C	NM_153676.4(USH1C):c.37-47G>T	noncoding	Benign
11	17533383	T	C	T17533383C	USH1C	NM_153676.4(USH1C):c.37-61A>G	noncoding	Benign
11	17533565	T	C	T17533565C	USH1C	NM_153676.4(USH1C):c.37-243A>G	noncoding	Benign
11	17544058	G	A	G17544058A	USH1C	NM_153676.4(USH1C):c.36+214C>T	noncoding	Benign
11	17544271	C	A	C17544271A	USH1C	NM_153676.4(USH1C):c.36+1G>T	noncoding	Pathogenic
11	17544301	G	A	G17544301A	USH1C	NM_153676.4(USH1C):c.7C>T:p.Arg3Ter	coding	Pathogenic
11	17544367	A	G	A17544367G	USH1C	NM_153676.4(USH1C):c.-60T>C	noncoding	Benign
11	17544490	A	C	A17544490C	USH1C	NC_000011.10:g.17544490A>C	noncoding	Benign
11	17547393	G	A	G17547393A	OTOG	NM_001277269.1(OTOG):c.21G>A:p.Ala7=	coding	Benign/Likely_benign
11	17547503	G	A	G17547503A	OTOG	NM_001277269.1(OTOG):c.131G>A:p.Arg44Gln	coding	Benign
11	17547938	G	A	G17547938A	OTOG	NM_001277269.2(OTOG):c.175-197G>A	coding	Benign
11	17547976	C	G	C17547976G	OTOG	NM_001277269.2(OTOG):c.175-159C>G	coding	Benign
11	17552020	C	T	C17552020T	OTOG	NM_001277269.1(OTOG):c.273C>T:p.Ser91=	coding	Benign
11	17552085	A	T	A17552085T	OTOG	NM_001277269.1(OTOG):c.328+10A>T	noncoding	Benign/Likely_benign
11	17553120	C	G	C17553120G	OTOG	NM_001277269.1(OTOG):c.330C>G:p.Tyr110Ter	coding	Pathogenic
11	17553137	A	G	A17553137G	OTOG	NM_001292063.2(OTOG):c.311A>G:p.Asn104Ser	coding	Benign
11	17553205	C	T	C17553205T	OTOG	NM_001292063.2(OTOG):c.379C>T:p.Gln127Ter	coding	Pathogenic
11	17553218	C	T	C17553218T	OTOG	NM_001277269.1(OTOG):c.421+7C>T	noncoding	Benign
11	17553513	C	T	C17553513T	OTOG	NM_001277269.1(OTOG):c.570C>T:p.Ser190=	coding	Benign/Likely_benign
11	17555877	G	T	G17555877T	OTOG	NM_001277269.1(OTOG):c.675G>T:p.Glu225Asp	coding	Benign/Likely_benign
11	17557146	G	A	G17557146A	OTOG	NM_001277269.1(OTOG):c.724G>A:p.Ala242Thr	coding	Benign
11	17557301	G	A	G17557301A	OTOG	NM_001277269.1(OTOG):c.879G>A:p.Lys293=	coding	Benign/Likely_benign
11	17558236	C	A	C17558236A	OTOG	NM_001277269.1(OTOG):c.953C>A:p.Ala318Asp	coding	Benign
11	17558324	C	A	C17558324A	OTOG	NM_001277269.1(OTOG):c.1032+9C>A	noncoding	Benign/Likely_benign
11	17558503	A	C	A17558503C	OTOG	NM_001277269.1(OTOG):c.1033-35A>C	noncoding	Benign
11	17558591	C	T	C17558591T	OTOG	NM_001277269.1(OTOG):c.1086C>T:p.His362=	coding	Benign/Likely_benign
11	17558592	G	A	G17558592A	OTOG	NM_001292063.2(OTOG):c.1051G>A:p.Ala351Thr	coding	Benign
11	17558600	C	T	C17558600T	OTOG	NM_001277269.1(OTOG):c.1095C>T:p.Val365=	coding	Benign/Likely_benign
11	17558628	A	T	A17558628T	OTOG	NM_001277269.1(OTOG):c.1123A>T:p.Thr375Ser	coding	Benign
11	17559048	A	C	A17559048C	OTOG	NM_001277269.1(OTOG):c.1140-4A>C	noncoding	Benign
11	17559106	G	A	G17559106A	OTOG	NM_001277269.1(OTOG):c.1194G>A:p.Ala398=	coding	Benign
11	17559535	T	C	T17559535C	OTOG	NM_001277269.1(OTOG):c.1251T>C:p.Thr417=	coding	Benign/Likely_benign
11	17559660	A	G	A17559660G	OTOG	NM_001277269.1(OTOG):c.1376A>G:p.Asn459Ser	coding	Benign
11	17560763	T	G	T17560763G	OTOG	NM_001277269.1(OTOG):c.1433T>G:p.Phe478Cys	coding	Benign
11	17561876	G	A	G17561876A	OTOG	NM_001277269.1(OTOG):c.1680+69G>A	noncoding	Benign
11	17570232	G	A	G17570232A	OTOG	NM_001277269.1(OTOG):c.1833G>A:p.Arg611=	coding	Benign/Likely_benign
11	17570375	C	T	C17570375T	OTOG	NM_001277269.1(OTOG):c.1976C>T:p.Thr659Met	coding	Benign
11	17570480	G	A	G17570480A	OTOG	NM_001277269.1(OTOG):c.1991+90G>A	noncoding	Benign
11	17572162	T	C	T17572162C	OTOG	NM_001277269.1(OTOG):c.2074T>C:p.Ser692Pro	coding	Benign
11	17573095	G	A	G17573095A	OTOG	NM_001277269.1(OTOG):c.2134G>A:p.Ala712Thr	coding	Benign/Likely_benign
11	17573211	C	T	C17573211T	OTOG	NM_001277269.2(OTOG):c.2250C>T:p.Cys750=	coding	Benign
11	17573271	C	T	C17573271T	OTOG	NM_001277269.1(OTOG):c.2310C>T:p.Arg770=	coding	Benign
11	17574766	G	A	G17574766A	OTOG	NM_001277269.1(OTOG):c.2376G>A:p.Pro792=	coding	Benign
11	17574824	G	A	G17574824A	OTOG	NM_001277269.1(OTOG):c.2434G>A:p.Asp812Asn	coding	Benign/Likely_benign
11	17574890	C	T	C17574890T	OTOG	NM_001277269.1(OTOG):c.2500C>T:p.Gln834Ter	coding	Pathogenic/Likely_pathogenic
11	17576581	G	C	G17576581C	OTOG	NM_001277269.1(OTOG):c.2548G>C:p.Gly850Arg	coding	Benign/Likely_benign
11	17576640	G	A	G17576640A	OTOG	NM_001277269.1(OTOG):c.2597+10G>A	noncoding	Benign
11	17576644	G	A	G17576644A	OTOG	NM_001277269.1(OTOG):c.2597+14G>A	noncoding	Benign
11	17578486	G	A	G17578486A	OTOG	NM_001277269.1(OTOG):c.2755G>A:p.Ala919Thr	coding	Benign
11	17578490	G	T	G17578490T	OTOG	NM_001277269.1(OTOG):c.2759G>T:p.Arg920Leu	coding	Benign/Likely_benign
11	17578506	G	A	G17578506A	OTOG	NM_001277269.1(OTOG):c.2775G>A:p.Ser925=	coding	Benign
11	17586486	C	T	C17586486T	OTOG	NM_001277269.1(OTOG):c.2808C>T:p.His936=	coding	Benign
11	17591549	G	A	G17591549A	OTOG	NM_001277269.1(OTOG):c.3003G>A:p.Pro1001=	coding	Benign/Likely_benign
11	17593282	C	T	C17593282T	OTOG	NM_001277269.1(OTOG):c.3132C>T:p.Asn1044=	coding	Benign/Likely_benign
11	17593656	G	A	G17593656A	OTOG	NM_001277269.1(OTOG):c.3224G>A:p.Arg1075Gln	coding	Benign
11	17593702	C	A	C17593702A	OTOG	NM_001277269.1(OTOG):c.3270C>A:p.Thr1090=	coding	Benign
11	17594009	A	C	A17594009C	OTOG	NM_001277269.1(OTOG):c.3325-38A>C	noncoding	Benign
11	17594039	C	G	C17594039G	OTOG	NM_001277269.1(OTOG):c.3325-8C>G	noncoding	Benign/Likely_benign
11	17594057	C	T	C17594057T	OTOG	NM_001277269.1(OTOG):c.3335C>T:p.Ala1112Val	coding	Benign
11	17594108	C	T	C17594108T	OTOG	NM_001277269.1(OTOG):c.3386C>T:p.Pro1129Leu	coding	Benign
11	17594109	G	A	G17594109A	OTOG	NM_001277269.1(OTOG):c.3387G>A:p.Pro1129=	coding	Benign
11	17594181	C	T	C17594181T	OTOG	NM_001277269.1(OTOG):c.3444+15C>T	noncoding	Benign
11	17596052	C	T	C17596052T	OTOG	NM_001277269.1(OTOG):c.3459C>T:p.Leu1153=	coding	Benign
11	17596164	C	A	C17596164A	OTOG	NM_001277269.1(OTOG):c.3561+10C>A	noncoding	Benign/Likely_benign
11	17596943	C	T	C17596943T	OTOG	NM_001277269.1(OTOG):c.3654C>T:p.Ser1218=	coding	Benign
11	17596989	C	T	C17596989T	OTOG	NM_001277269.1(OTOG):c.3700C>T:p.Arg1234Ter	coding	Pathogenic
11	17596999	G	A	G17596999A	OTOG	NM_001277269.1(OTOG):c.3710G>A:p.Arg1237His	coding	Benign
11	17606066	G	C	G17606066C	OTOG	NM_001277269.1(OTOG):c.4123G>C:p.Ala1375Pro	coding	Benign
11	17608377	G	A	G17608377A	OTOG	NM_001277269.1(OTOG):c.4274G>A:p.Arg1425Gln	coding	Benign/Likely_benign
11	17609906	C	T	C17609906T	OTOG	NM_001277269.2(OTOG):c.[4642C>T]	coding	Benign/Likely_benign
11	17609927	G	A	G17609927A	OTOG	NM_001277269.1(OTOG):c.4663G>A:p.Ala1555Thr	coding	Benign/Likely_benign
11	17610204	C	T	C17610204T	OTOG	NM_001277269.1(OTOG):c.4940C>T:p.Pro1647Leu	coding	Benign
11	17610284	G	T	G17610284T	OTOG	NM_001277269.1(OTOG):c.5020G>T:p.Gly1674Ter	coding	Pathogenic/Likely_pathogenic
11	17610352	C	T	C17610352T	OTOG	NM_001277269.2(OTOG):c.5088C>T:p.Pro1696=	coding	Benign
11	17610356	C	T	C17610356T	OTOG	NM_001277269.1(OTOG):c.5092C>T:p.Gln1698Ter	coding	Pathogenic
11	17610535	C	A	C17610535A	OTOG	NM_001277269.1(OTOG):c.5271C>A:p.Leu1757=	coding	Benign/Likely_benign
11	17610759	C	G	C17610759G	OTOG	NM_001277269.1(OTOG):c.5495C>G:p.Ala1832Gly	coding	Benign
11	17610759	C	T	C17610759T	OTOG	NM_001277269.1(OTOG):c.5495C>T:p.Ala1832Val	coding	Benign
11	17610849	C	G	C17610849G	OTOG	NM_001292063.2(OTOG):c.5549C>G:p.Pro1850Arg	coding	Benign/Likely_benign
11	17610994	A	G	A17610994G	OTOG	NM_001292063.2(OTOG):c.5694A>G:p.Val1898=	coding	Benign
11	17611068	T	C	T17611068C	OTOG	NM_001277269.1(OTOG):c.5804T>C:p.Met1935Thr	coding	Benign
11	17611104	C	T	C17611104T	OTOG	NM_001277269.1(OTOG):c.5840C>T:p.Thr1947Met	coding	Benign
11	17611128	C	T	C17611128T	OTOG	NM_001277269.1(OTOG):c.5864C>T:p.Thr1955Met	coding	Benign/Likely_benign
11	17611219	G	A	G17611219A	OTOG	NM_001292063.2(OTOG):c.5919G>A:p.Thr1973=	coding	Benign
11	17611312	C	T	C17611312T	OTOG	NM_001292063.2(OTOG):c.6012C>T:p.Asp2004=	coding	Benign/Likely_benign
11	17612384	G	A	G17612384A	OTOG	NM_001277269.1(OTOG):c.6328+54G>A	noncoding	Benign
11	17612613	C	T	C17612613T	OTOG	NM_001277269.1(OTOG):c.6329-7C>T	noncoding	Benign
11	17612638	C	T	C17612638T	OTOG	NM_001277269.1(OTOG):c.6347C>T:p.Pro2116Leu	coding	Pathogenic
11	17612653	T	C	T17612653C	OTOG	NM_001277269.1(OTOG):c.6362T>C:p.Val2121Ala	coding	Benign
11	17631764	G	A	G17631764A	OTOG	NM_001277269.1(OTOG):c.6811G>A:p.Ala2271Thr	coding	Benign
11	17632216	T	C	T17632216C	OTOG	NM_001277269.1(OTOG):c.7098T>C:p.Ser2366=	coding	Benign
11	17634131	G	A	G17634131A	OTOG	NM_001277269.1(OTOG):c.7366G>A:p.Gly2456Ser	coding	Benign
11	17634201	G	A	G17634201A	OTOG	NM_001277269.1(OTOG):c.7436G>A:p.Arg2479His	coding	Benign
11	17634218	C	T	C17634218T	OTOG	NM_001277269.1(OTOG):c.7453C>T:p.Arg2485Ter	coding	Pathogenic
11	17634292	A	T	A17634292T	OTOG	NM_001277269.1(OTOG):c.7516+11A>T	noncoding	Benign
11	17634898	G	A	G17634898A	OTOG	NM_001277269.1(OTOG):c.7571G>A:p.Arg2524His	coding	Benign
11	17635139	C	T	C17635139T	OTOG	NM_001277269.1(OTOG):c.7681C>T:p.Leu2561=	coding	Benign
11	17635144	C	T	C17635144T	OTOG	NM_001277269.1(OTOG):c.7686C>T:p.Ile2562=	coding	Benign/Likely_benign
11	17638480	C	A	C17638480A	OTOG	NM_001277269.1(OTOG):c.7861C>A:p.Gln2621Lys	coding	Benign/Likely_benign
11	17638557	C	T	C17638557T	OTOG	NM_001277269.1(OTOG):c.7930+8C>T	noncoding	Benign
11	17638582	G	A	G17638582A	OTOG	NM_001277269.1(OTOG):c.7930+33G>A	noncoding	Benign
11	17638634	G	A	G17638634A	OTOG	NM_001277269.1(OTOG):c.7930+85G>A	noncoding	Benign
11	17639474	G	A	G17639474A	OTOG	NM_001277269.1(OTOG):c.7971+11G>A	noncoding	Benign
11	17640936	C	T	C17640936T	OTOG	NM_001277269.1(OTOG):c.8071C>T:p.Arg2691Cys	coding	Benign/Likely_benign
11	17641069	T	C	T17641069C	OTOG	NM_001277269.1(OTOG):c.8204T>C:p.Leu2735Pro	coding	Benign/Likely_benign
11	17641835	C	A	C17641835A	OTOG	NM_001277269.1(OTOG):c.8227-12C>A	noncoding	Benign
11	17641869	G	A	G17641869A	OTOG	NM_001277269.1(OTOG):c.8249G>A:p.Arg2750Gln	coding	Benign
11	17641897	C	T	C17641897T	OTOG	NM_001277269.1(OTOG):c.8277C>T:p.Cys2759=	coding	Benign
11	17641918	C	T	C17641918T	OTOG	NM_001277269.1(OTOG):c.8298C>T:p.Phe2766=	coding	Benign
11	17642195	G	C	G17642195C	OTOG	NM_001277269.1(OTOG):c.8400G>C:p.Leu2800=	coding	Benign
11	17645592	G	C	G17645592C	OTOG	NM_001277269.2(OTOG):c.[8526G>C]	coding	Benign/Likely_benign
11	17645736	C	T	C17645736T	OTOG	NM_001277269.1(OTOG):c.8578-8C>T	noncoding	Benign/Likely_benign
11	17645848	G	A	G17645848A	OTOG	NM_001277269.1(OTOG):c.8682G>A:p.Leu2894=	coding	Benign/Likely_benign
11	17645892	G	C	G17645892C	OTOG	NM_001277269.1(OTOG):c.8726G>C:p.Trp2909Ser	coding	Benign
11	17719800	A	G	A17719800G	MYOD1	NM_002478.5(MYOD1):c.18A>G:p.Pro6=	coding	Benign
11	17719970	C	A	C17719970A	MYOD1	NM_002478.5(MYOD1):c.188C>A:p.Ser63Ter	coding	Pathogenic
11	17720968	G	T	G17720968T	MYOD1	NM_002478.5(MYOD1):c.697G>T:p.Glu233Ter	coding	Pathogenic
11	17721251	G	C	G17721251C	MYOD1	NM_002478.5(MYOD1):c.710-4G>C	noncoding	Benign
11	17721313	G	A	G17721313A	MYOD1	NM_002478.5(MYOD1):c.768G>A:p.Val256=	coding	Benign
11	17736074	G	A	G17736074A	KCNC1	NM_001112741.1(KCNC1):c.72G>A:p.Ser24=	coding	Benign
11	17771811	C	T	C17771811T	KCNC1	NM_001112741.2(KCNC1):c.717C>T:p.Ala239=	coding	Benign
11	17771838	C	T	C17771838T	KCNC1	NM_001112741.1(KCNC1):c.744C>T:p.Ile248=	coding	Benign
11	17771844	C	T	C17771844T	KCNC1	NM_001112741.1(KCNC1):c.750C>T:p.Gly250=	coding	Benign
11	17772027	C	T	C17772027T	KCNC1	NM_001112741.1(KCNC1):c.933C>T:p.Arg311=	coding	Benign/Likely_benign
11	17772053	G	A	G17772053A	KCNC1	NM_001112741.1(KCNC1):c.959G>A:p.Arg320His	coding	Pathogenic
11	17772111	A	C	A17772111C	KCNC1	NM_001112741.1(KCNC1):c.1017A>C:p.Arg339=	coding	Benign
11	17772330	C	T	C17772330T	KCNC1	NM_001112741.1(KCNC1):c.1236C>T:p.Ser412=	coding	Benign/Likely_benign
11	17772356	C	T	C17772356T	KCNC1	NM_001112741.1(KCNC1):c.1262C>T:p.Ala421Val	coding	Pathogenic/Likely_pathogenic
11	17772381	C	A	C17772381A	KCNC1	NM_001112741.1(KCNC1):c.1287C>A:p.Ala429=	coding	Benign/Likely_benign
11	17772545	A	G	A17772545G	KCNC1	NM_001112741.2(KCNC1):c.1451A>G:p.Gln484Arg	coding	Benign
11	18022863	A	G	A18022863G	TPH1	NM_004179.3(TPH1):c.1095T>C:p.Leu365=	coding	Benign
11	18036028	G	A	G18036028A	TPH1	NM_004179.3(TPH1):c.232C>T:p.His78Tyr	coding	Benign
11	18173680	G	A	G18173680A	MRGPRX4	NM_054032.3(MRGPRX4):c.424G>A:p.Val142Met	coding	Benign
11	18269190	T	G	T18269190G	SAA1	NM_199161.5(SAA1):c.92-5T>G	noncoding	Benign
11	18269755	G	A	G18269755A	SAA1	NM_199161.5(SAA1):c.269G>A:p.Gly90Asp	coding	Benign
11	18278814	A	T	A18278814T	HPS5	NM_181507.1(HPS5):c.*1068T>A	noncoding	Benign
11	18279078	G	A	G18279078A	HPS5	NM_181507.1(HPS5):c.*804C>T	noncoding	Benign
11	18279407	G	A	G18279407A	HPS5	NM_181507.1(HPS5):c.*475C>T	noncoding	Benign
11	18279418	G	T	G18279418T	HPS5	NM_181507.1(HPS5):c.*464C>A	noncoding	Benign
11	18279439	A	T	A18279439T	HPS5	NM_181507.1(HPS5):c.*443T>A	noncoding	Benign
11	18279582	A	G	A18279582G	HPS5	NM_181507.1(HPS5):c.*300T>C	noncoding	Benign
11	18279583	G	A	G18279583A	HPS5	NM_181507.1(HPS5):c.*299C>T	noncoding	Benign
11	18281986	G	A	G18281986A	HPS5	NM_181507.2(HPS5):c.3293C>T:p.Thr1098Ile	coding	Benign
11	18282050	G	A	G18282050A	HPS5	NM_181507.1(HPS5):c.3229C>T:p.Arg1077Trp	coding	Benign
11	18282062	T	C	T18282062C	HPS5	NM_181507.2(HPS5):c.3217A>G:p.Met1073Val	coding	Benign
11	18283786	T	C	T18283786C	HPS5	NM_181507.2(HPS5):c.3058+9A>G	noncoding	Benign
11	18283792	T	C	T18283792C	HPS5	NM_181507.1(HPS5):c.3058+3A>G	noncoding	Pathogenic
11	18287659	G	A	G18287659A	HPS5	NM_181507.1(HPS5):c.2593C>T:p.Arg865Ter	coding	Pathogenic
11	18287917	G	A	G18287917A	HPS5	NM_181507.2(HPS5):c.2537C>T:p.Pro846Leu	coding	Benign
11	18288021	A	G	A18288021G	HPS5	NM_181507.1(HPS5):c.2441-8T>C	noncoding	Benign
11	18291406	G	A	G18291406A	HPS5	NM_181507.1(HPS5):c.2440+36C>T	noncoding	Benign
11	18291663	A	G	A18291663G	HPS5	NM_181507.1(HPS5):c.2219T>C:p.Leu740Ser	coding	Pathogenic
11	18291773	A	G	A18291773G	HPS5	NM_181507.2(HPS5):c.2109T>C:p.Asp703=	coding	Benign
11	18292011	A	C	A18292011C	HPS5	NM_181507.1(HPS5):c.1871T>G:p.Leu624Arg	coding	Pathogenic
11	18292882	T	G	T18292882G	HPS5	NM_181507.1(HPS5):c.1862+17A>C	noncoding	Benign
11	18292989	G	A	G18292989A	HPS5	NM_181507.2(HPS5):c.1785-13C>T	noncoding	Benign/Likely_benign
11	18295173	G	C	G18295173C	HPS5	NM_181507.2(HPS5):c.1635-4C>G	noncoding	Benign
11	18296152	C	T	C18296152T	HPS5	NM_181507.1(HPS5):c.1511-30G>A	noncoding	Benign
11	18296807	C	T	C18296807T	HPS5	NM_181507.2(HPS5):c.1501G>A:p.Gly501Arg	coding	Benign/Likely_benign
11	18296832	C	T	C18296832T	HPS5	NM_181507.2(HPS5):c.1476G>A:p.Leu492=	coding	Benign
11	18296891	G	A	G18296891A	HPS5	NM_181507.1(HPS5):c.1417C>T:p.Gln473Ter	coding	Pathogenic
11	18297633	G	T	G18297633T	HPS5	NM_181507.2(HPS5):c.1249C>A:p.Leu417Met	coding	Benign
11	18297732	G	T	G18297732T	HPS5	NM_181507.2(HPS5):c.1165-15C>A	noncoding	Benign
11	18306137	G	T	G18306137T	HPS5	NM_181507.2(HPS5):c.822C>A:p.Leu274=	coding	Benign
11	18306240	C	G	C18306240G	HPS5	NM_181507.1(HPS5):c.719G>C:p.Arg240Pro	coding	Pathogenic
11	18306344	T	C	T18306344C	HPS5	NM_181507.2(HPS5):c.615A>G:p.Glu205=	coding	Benign
11	18311914	C	T	C18311914T	HPS5	NM_181507.1(HPS5):c.219G>A:p.Arg73=	coding	Pathogenic
11	18311994	A	G	A18311994G	HPS5	NM_181507.2(HPS5):c.139T>C:p.Leu47=	coding	Benign/Likely_benign
11	18321987	G	C	G18321987C	HPS5	NM_181507.1(HPS5):c.-91C>G	noncoding	Benign
11	18322038	G	A	G18322038A	HPS5	NM_181507.1(HPS5):c.-142C>T	noncoding	Benign
11	18322146	C	A	C18322146A	HPS5	NM_181507.1(HPS5):c.-250G>T	noncoding	Benign
11	18322147	G	T	G18322147T	HPS5	NM_181507.1(HPS5):c.-251C>A	noncoding	Benign
11	18335872	A	G	A18335872G	GTF2H1	NM_005316.4(GTF2H1):c.273A>G:p.Ala91=	coding	Benign
11	18397172	C	T	C18397172T	LDHA	NM_005566.4(LDHA):c.126+204C>T	noncoding	Benign
11	18399258	T	A	T18399258A	LDHA	NM_005566.4(LDHA):c.127-173T>A	noncoding	Benign
11	18399329	T	G	T18399329G	LDHA	NM_005566.4(LDHA):c.127-102T>G	noncoding	Benign
11	18400940	C	A	C18400940A	LDHA	NM_005566.4(LDHA):c.348C>A:p.Ile116=	coding	Benign
11	18400979	G	A	G18400979A	LDHA	NM_005566.4(LDHA):c.387G>A:p.Pro129=	coding	Benign
11	18402571	A	T	A18402571T	LDHA	NM_005566.4(LDHA):c.419-269A>T	noncoding	Benign
11	18402676	G	C	G18402676C	LDHA	NM_005566.4(LDHA):c.419-164G>C	noncoding	Benign
11	18402731	A	C	A18402731C	LDHA	NM_005566.4(LDHA):c.419-109A>C	noncoding	Benign
11	18402904	C	T	C18402904T	LDHA	NM_005566.4(LDHA):c.483C>T:p.Ser161=	coding	Benign
11	18402940	A	G	A18402940G	LDHA	NM_005566.4(LDHA):c.519A>G:p.Leu173=	coding	Benign
11	18403043	T	A	T18403043A	LDHA	NM_005566.4(LDHA):c.592+30T>A	noncoding	Benign
11	18403138	T	G	T18403138G	LDHA	NM_005566.4(LDHA):c.592+125T>G	noncoding	Benign
11	18403471	T	C	T18403471C	LDHA	NM_005566.4(LDHA):c.593-223T>C	noncoding	Benign
11	18403709	G	C	G18403709C	LDHA	NM_005566.4(LDHA):c.608G>C:p.Gly203Ala	coding	Benign
11	18403820	T	A	T18403820A	LDHA	NM_005566.4(LDHA):c.710+9T>A	noncoding	Benign
11	18405109	A	T	A18405109T	LDHA	NM_005566.4(LDHA):c.711-340A>T	noncoding	Benign
11	18405249	T	G	T18405249G	LDHA	NM_005566.4(LDHA):c.711-200T>G	noncoding	Benign
11	18405515	G	A	G18405515A	LDHA	NM_005566.4(LDHA):c.777G>A:p.Leu259=	coding	Benign/Likely_benign
11	18405770	A	G	A18405770G	LDHA	NM_005566.4(LDHA):c.834+198A>G	noncoding	Benign
11	18407524	C	G	C18407524G	LDHA	NM_005566.4(LDHA):c.*243C>G	noncoding	Benign
11	18407903	A	G	A18407903G	LDHA	NM_005566.4(LDHA):c.*622A>G	noncoding	Benign
11	18407920	T	C	T18407920C	LDHA	NM_005566.4(LDHA):c.*639T>C	noncoding	Benign
11	18408001	C	G	C18408001G	LDHA	NM_005566.4(LDHA):c.*720C>G	noncoding	Benign
11	18412754	A	C	A18412754C	LDHC	NM_017448.5(LDHC):c.37A>C:p.Ile13Leu	coding	Benign
11	18481759	G	A	G18481759A	TSG101	NM_006292.4(TSG101):c.954C>T:p.Ile318=	coding	Benign
11	18934118	G	A	G18934118A	MRGPRX1	NM_147199.3(MRGPRX1):c.667C>T:p.Leu223=	coding	Benign
11	18934621	C	A	C18934621A	MRGPRX1	NM_147199.3(MRGPRX1):c.164G>T:p.Arg55Leu	coding	Benign
11	19182041	A	G	A19182041G	CSRP3	NM_003476.5(CSRP3):c.*629T>C	noncoding	Benign
11	19182658	C	T	C19182658T	CSRP3	NM_003476.5(CSRP3):c.*12G>A	noncoding	Benign/Likely_benign
11	19182766	G	T	G19182766T	CSRP3	NM_003476.5(CSRP3):c.509-20C>A	noncoding	Benign
11	19182856	A	G	A19182856G	CSRP3	NM_003476.5(CSRP3):c.509-110T>C	noncoding	Benign
11	19184879	A	T	A19184879T	CSRP3	NM_003476.5(CSRP3):c.508+73T>A	noncoding	Benign
11	19184934	G	A	G19184934A	CSRP3	NM_003476.5(CSRP3):c.508+18C>T	noncoding	Benign
11	19185040	C	G	C19185040G	CSRP3	NM_003476.5(CSRP3):c.420G>C:p.Trp140Cys	coding	Pathogenic
11	19185141	C	T	C19185141T	CSRP3	NM_003476.5(CSRP3):c.415-96G>A	noncoding	Benign
11	19186294	C	T	C19186294T	CSRP3	NM_003476.5(CSRP3):c.336G>A:p.Ala112=	coding	Benign
11	19186318	G	C	G19186318C	CSRP3	NM_003476.5(CSRP3):c.312C>G:p.Thr104=	coding	Benign/Likely_benign
11	19186523	C	A	C19186523A	CSRP3	NM_003476.5(CSRP3):c.282-175G>T	noncoding	Benign
11	19186617	G	A	G19186617A	CSRP3	NM_003476.5(CSRP3):c.282-269C>T	noncoding	Benign
11	19188204	G	A	G19188204A	CSRP3	NM_003476.5(CSRP3):c.213C>T:p.Ile71=	coding	Benign/Likely_benign
11	19188245	A	C	A19188245C	CSRP3	NM_003476.5(CSRP3):c.172T>G:p.Cys58Gly	coding	Pathogenic
11	19188267	C	T	C19188267T	CSRP3	NM_003476.5(CSRP3):c.150G>A:p.Ala50=	coding	Benign/Likely_benign
11	19188396	G	A	G19188396A	CSRP3	NM_003476.5(CSRP3):c.113-92C>T	noncoding	Benign
11	19188536	C	T	C19188536T	CSRP3	NM_003476.5(CSRP3):c.113-232G>A	noncoding	Benign
11	19188565	G	A	G19188565A	CSRP3	NM_003476.5(CSRP3):c.113-261C>T	noncoding	Benign
11	19191996	C	G	C19191996G	CSRP3	NM_003476.5(CSRP3):c.112+341G>C	noncoding	Benign
11	19192059	A	G	A19192059G	CSRP3	NM_003476.5(CSRP3):c.112+278T>C	noncoding	Benign
11	19192211	A	G	A19192211G	CSRP3	NM_003476.5(CSRP3):c.112+126T>C	noncoding	Benign
11	19201971	G	A	G19201971A	CSRP3	NM_003476.5(CSRP3):c.-46C>T	noncoding	Benign
11	19224728	T	C	T19224728C	E2F8	NM_024680.4(E2F8):c.2534A>G:p.Asn845Ser	coding	Benign
11	19225332	G	A	G19225332A	E2F8	NM_024680.4(E2F8):c.2310C>T:p.Val770=	coding	Benign
11	19225551	C	T	C19225551T	E2F8	NM_024680.4(E2F8):c.2091G>A:p.Pro697=	coding	Benign
11	19225738	T	C	T19225738C	E2F8	NM_024680.4(E2F8):c.2020A>G:p.Ile674Val	coding	Benign
11	19225862	G	A	G19225862A	E2F8	NM_024680.4(E2F8):c.1896C>T:p.Thr632=	coding	Benign
11	19230828	C	G	C19230828G	E2F8	NM_024680.4(E2F8):c.1073G>C:p.Ser358Thr	coding	Benign
11	19237944	A	G	A19237944G	E2F8	NM_024680.4(E2F8):c.204T>C:p.Ser68=	coding	Benign
11	19238070	G	A	G19238070A	E2F8	NM_024680.4(E2F8):c.78C>T:p.Thr26=	coding	Benign
11	19892587	C	T	C19892587T	NAV2	NM_145117.5(NAV2):c.924C>T:p.His308=	coding	Benign
11	20045282	G	A	G20045282A	NAV2	NM_145117.5(NAV2):c.3514G>A:p.Ala1172Thr	coding	Benign
11	20048803	C	T	C20048803T	NAV2	NM_145117.5(NAV2):c.3978C>T:p.Ser1326=	coding	Benign
11	20083060	G	A	G20083060A	NAV2	NM_145117.5(NAV2):c.5379G>A:p.Ala1793=	coding	Benign
11	20397645	C	T	C20397645T	PRMT3	NM_005788.4(PRMT3):c.629C>T:p.Ala210Val	coding	Benign
11	20599481	C	T	C20599481T	SLC6A5	NM_004211.4(SLC6A5):c.-192C>T	noncoding	Benign
11	20599497	T	G	T20599497G	SLC6A5	NM_004211.4(SLC6A5):c.-176T>G	noncoding	Benign
11	20599640	C	T	C20599640T	SLC6A5	NM_004211.5(SLC6A5):c.-33C>T	noncoding	Benign
11	20601182	G	T	G20601182T	SLC6A5	NM_004211.5(SLC6A5):c.57G>T:p.Ala19=	coding	Benign
11	20601262	C	G	C20601262G	SLC6A5	NM_004211.5(SLC6A5):c.137C>G:p.Pro46Arg	coding	Benign/Likely_benign
11	20601391	C	A	C20601391A	SLC6A5	NM_004211.5(SLC6A5):c.266C>A:p.Ala89Glu	coding	Benign/Likely_benign
11	20601429	G	A	G20601429A	SLC6A5	NM_004211.5(SLC6A5):c.304G>A:p.Gly102Ser	coding	Benign
11	20601461	C	T	C20601461T	SLC6A5	NM_004211.5(SLC6A5):c.336C>T:p.Ser112=	coding	Benign
11	20601467	C	G	C20601467G	SLC6A5	NM_004211.5(SLC6A5):c.342C>G:p.Pro114=	coding	Benign/Likely_benign
11	20601472	A	G	A20601472G	SLC6A5	NM_004211.5(SLC6A5):c.347A>G:p.Asn116Ser	coding	Benign
11	20601477	C	T	C20601477T	SLC6A5	NM_004211.5(SLC6A5):c.352C>T:p.Leu118=	coding	Benign
11	20601496	T	C	T20601496C	SLC6A5	NM_004211.5(SLC6A5):c.371T>C:p.Phe124Ser	coding	Benign
11	20601520	C	G	C20601520G	SLC6A5	NM_004211.5(SLC6A5):c.395C>G:p.Ala132Gly	coding	Benign
11	20601610	C	G	C20601610G	SLC6A5	NM_004211.5(SLC6A5):c.485C>G:p.Ala162Gly	coding	Benign
11	20601625	C	A	C20601625A	SLC6A5	NM_004211.5(SLC6A5):c.500C>A:p.Thr167Lys	coding	Benign
11	20604316	C	T	C20604316T	SLC6A5	NM_004211.5(SLC6A5):c.571C>T:p.Arg191Ter	coding	Pathogenic
11	20607077	G	A	G20607077A	SLC6A5	NM_004211.5(SLC6A5):c.750G>A:p.Ser250=	coding	Benign
11	20607104	A	G	A20607104G	SLC6A5	NM_004211.5(SLC6A5):c.777A>G:p.Pro259=	coding	Benign
11	20607135	C	T	C20607135T	SLC6A5	NM_004211.5(SLC6A5):c.808C>T:p.Gln270Ter	coding	Pathogenic
11	20607528	C	A	C20607528A	SLC6A5	NM_004211.5(SLC6A5):c.861C>A:p.Tyr287Ter	coding	Pathogenic
11	20607583	C	G	C20607583G	SLC6A5	NM_004211.5(SLC6A5):c.916C>G:p.Leu306Val	coding	Pathogenic
11	20607618	G	A	G20607618A	SLC6A5	NM_004211.5(SLC6A5):c.951G>A:p.Thr317=	coding	Benign
11	20617755	C	A	C20617755A	SLC6A5	NM_004211.5(SLC6A5):c.1131C>A:p.Tyr377Ter	coding	Pathogenic
11	20617854	A	G	A20617854G	SLC6A5	NM_004211.5(SLC6A5):c.1230A>G:p.Ser410=	coding	Benign
11	20626721	C	T	C20626721T	SLC6A5	NM_004211.5(SLC6A5):c.1274C>T:p.Thr425Met	coding	Pathogenic
11	20626818	G	C	G20626818C	SLC6A5	NM_004211.5(SLC6A5):c.1371G>C:p.Lys457Asn	coding	Benign
11	20626834	G	A	G20626834A	SLC6A5	NM_004211.5(SLC6A5):c.1387G>A:p.Asp463Asn	coding	Benign
11	20627997	C	T	C20627997T	SLC6A5	NM_004211.5(SLC6A5):c.1413C>T:p.Ala471=	coding	Benign/Likely_benign
11	20628013	T	C	T20628013C	SLC6A5	NM_004211.5(SLC6A5):c.1429T>C:p.Ser477Pro	coding	Pathogenic
11	20628028	T	C	T20628028C	SLC6A5	NM_004211.5(SLC6A5):c.1444T>C:p.Trp482Arg	coding	Pathogenic
11	20628056	A	G	A20628056G	SLC6A5	NM_004211.5(SLC6A5):c.1472A>G:p.Tyr491Cys	coding	Pathogenic
11	20628080	A	T	A20628080T	SLC6A5	NM_004211.5(SLC6A5):c.1496A>T:p.Tyr499Phe	coding	Benign
11	20628098	T	C	T20628098C	SLC6A5	NM_004211.5(SLC6A5):c.1499+15T>C	noncoding	Benign
11	20630717	A	G	A20630717G	SLC6A5	NM_004211.5(SLC6A5):c.1526A>G:p.Asn509Ser	coding	Pathogenic
11	20630721	T	G	T20630721G	SLC6A5	NM_004211.5(SLC6A5):c.1530T>G:p.Ser510Arg	coding	Pathogenic
11	20630739	C	T	C20630739T	SLC6A5	NM_004211.5(SLC6A5):c.1548C>T:p.Ala516=	coding	Benign/Likely_benign
11	20636322	T	C	T20636322C	SLC6A5	NM_004211.5(SLC6A5):c.1640T>C:p.Phe547Ser	coding	Pathogenic/Likely_pathogenic
11	20638477	C	T	C20638477T	SLC6A5	NM_004211.5(SLC6A5):c.1888C>T:p.Gln630Ter	coding	Pathogenic
11	20646934	C	T	C20646934T	SLC6A5	NM_004211.5(SLC6A5):c.2070C>T:p.Thr690=	coding	Benign/Likely_benign
11	20652286	C	A	C20652286A	SLC6A5	NM_004211.5(SLC6A5):c.2071-3C>A	noncoding	Benign
11	20652321	G	A	G20652321A	SLC6A5	NM_004211.5(SLC6A5):c.2103G>A:p.Glu701=	coding	Benign
11	20652332	A	G	A20652332G	SLC6A5	NM_004211.5(SLC6A5):c.2114A>G:p.Tyr705Cys	coding	Benign
11	20654707	T	C	T20654707C	SLC6A5	NM_004211.5(SLC6A5):c.2239-6T>C	noncoding	Benign
11	20654769	C	T	C20654769T	SLC6A5	NM_004211.5(SLC6A5):c.2295C>T:p.His765=	coding	Benign
11	20654773	G	A	G20654773A	SLC6A5	NM_004211.5(SLC6A5):c.2299G>A:p.Gly767Arg	coding	Benign
11	20654840	A	G	A20654840G	SLC6A5	NM_004211.5(SLC6A5):c.2366A>G:p.Lys789Arg	coding	Benign/Likely_benign
11	20654871	C	T	C20654871T	SLC6A5	NM_004211.5(SLC6A5):c.*3C>T	noncoding	Benign
11	20847704	G	A	G20847704A	NELL1	NM_006157.5(NELL1):c.457G>A:p.Ala153Thr	coding	Benign
11	20885514	C	T	C20885514T	NELL1	NM_006157.5(NELL1):c.577C>T:p.Arg193Cys	coding	Benign
11	20918209	T	G	T20918209G	NELL1	NM_006157.5(NELL1):c.631T>G:p.Phe211Val	coding	Benign
11	20919331	A	T	A20919331T	NELL1	NM_006157.5(NELL1):c.756A>T:p.Ala252=	coding	Benign
11	20927407	G	A	G20927407A	NELL1	NM_006157.5(NELL1):c.859G>A:p.Val287Ile	coding	Benign
11	20947424	G	A	G20947424A	NELL1	NM_006157.5(NELL1):c.1160G>A:p.Arg387His	coding	Benign
11	21229352	G	A	G21229352A	NELL1	NM_006157.5(NELL1):c.1447G>A:p.Gly483Ser	coding	Benign
11	21560217	C	T	C21560217T	NELL1	NM_006157.5(NELL1):c.1815C>T:p.His605=	coding	Benign
11	21560308	C	T	C21560308T	NELL1	NM_006157.5(NELL1):c.1906C>T:p.His636Tyr	coding	Benign
11	22193276	G	T	G22193276T	ANO5	NM_213599.2(ANO5):c.-217G>T	noncoding	Benign/Likely_benign
11	22193357	G	C	G22193357C	ANO5	NM_213599.2(ANO5):c.-136G>C	noncoding	Benign
11	22193596	G	T	G22193596T	ANO5	NM_213599.2(ANO5):c.40+64G>T	noncoding	Benign
11	22203803	G	A	G22203803A	ANO5	NM_213599.2(ANO5):c.41-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	22203832	C	A	C22203832A	ANO5	NM_213599.2(ANO5):c.69C>A:p.Tyr23Ter	coding	Pathogenic/Likely_pathogenic
11	22210983	C	A	C22210983A	ANO5	NM_213599.2(ANO5):c.88-281C>A	noncoding	Benign
11	22211480	G	A	G22211480A	ANO5	NM_213599.2(ANO5):c.138+166G>A	noncoding	Benign
11	22211483	G	A	G22211483A	ANO5	NM_213599.2(ANO5):c.138+169G>A	noncoding	Benign
11	22211520	T	C	T22211520C	ANO5	NM_213599.2(ANO5):c.138+206T>C	noncoding	Benign
11	22218020	T	G	T22218020G	ANO5	NM_213599.2(ANO5):c.139-226T>G	noncoding	Benign
11	22218255	C	T	C22218255T	ANO5	NM_213599.2(ANO5):c.148C>T:p.Arg50Ter	coding	Pathogenic
11	22218510	G	A	G22218510A	ANO5	NM_213599.2(ANO5):c.180+223G>A	noncoding	Benign
11	22218566	T	C	T22218566C	ANO5	NM_213599.2(ANO5):c.180+279T>C	noncoding	Benign
11	22221136	C	T	C22221136T	ANO5	NM_213599.2(ANO5):c.220C>T:p.Arg74Ter	coding	Pathogenic
11	22221183	T	C	T22221183C	ANO5	NM_213599.3(ANO5):c.267T>C:p.Asp89=	coding	Benign
11	22227002	T	C	T22227002C	ANO5	NM_213599.2(ANO5):c.364-300T>C	noncoding	Benign
11	22227019	T	C	T22227019C	ANO5	NM_213599.2(ANO5):c.364-283T>C	noncoding	Benign
11	22227350	G	T	G22227350T	ANO5	NM_213599.2(ANO5):c.412G>T:p.Glu138Ter	coding	Pathogenic
11	22227542	G	A	G22227542A	ANO5	NM_213599.2(ANO5):c.604G>A:p.Glu202Lys	coding	Benign
11	22227554	A	G	A22227554G	ANO5	NM_213599.2(ANO5):c.616A>G:p.Thr206Ala	coding	Benign
11	22227843	G	A	G22227843A	ANO5	NM_213599.2(ANO5):c.648+257G>A	noncoding	Benign
11	22235914	C	G	C22235914G	ANO5	NM_213599.2(ANO5):c.649-249C>G	noncoding	Benign
11	22235997	A	G	A22235997G	ANO5	NM_213599.2(ANO5):c.649-166A>G	noncoding	Benign
11	22236049	T	A	T22236049A	ANO5	NM_213599.2(ANO5):c.649-114T>A	noncoding	Benign
11	22236206	G	T	G22236206T	ANO5	NM_213599.2(ANO5):c.692G>T:p.Gly231Val	coding	Pathogenic/Likely_pathogenic
11	22236277	G	A	G22236277A	ANO5	NM_213599.2(ANO5):c.762+1G>A	coding	Pathogenic/Likely_pathogenic
11	22236363	G	A	G22236363A	ANO5	NM_213599.2(ANO5):c.762+87G>A	noncoding	Benign
11	22236597	T	C	T22236597C	ANO5	NM_213599.2(ANO5):c.762+321T>C	noncoding	Benign
11	22239581	A	T	A22239581T	ANO5	NM_213599.2(ANO5):c.775A>T:p.Lys259Ter	coding	Pathogenic
11	22239606	C	G	C22239606G	ANO5	NM_213599.3(ANO5):c.800C>G:p.Thr267Ser	coding	Benign
11	22239619	C	G	C22239619G	ANO5	NM_213599.2(ANO5):c.813C>G:p.Tyr271Ter	coding	Pathogenic
11	22239641	C	T	C22239641T	ANO5	NM_213599.2(ANO5):c.835C>T:p.Arg279Ter	coding	Pathogenic
11	22250161	T	A	T22250161A	ANO5	NM_213599.2(ANO5):c.879-76T>A	noncoding	Benign
11	22250219	T	C	T22250219C	ANO5	NM_213599.2(ANO5):c.879-18T>C	noncoding	Benign
11	22250247	G	T	G22250247T	ANO5	NM_213599.2(ANO5):c.889G>T:p.Gly297Ter	coding	Pathogenic
11	22250324	A	T	A22250324T	ANO5	NM_213599.3(ANO5):c.966A>T:p.Leu322Phe	coding	Benign/Likely_benign
11	22250372	G	A	G22250372A	ANO5	NM_213599.3(ANO5):c.1013+1G>A	coding	Pathogenic
11	22250793	T	C	T22250793C	ANO5	NM_213599.2(ANO5):c.1066T>C:p.Cys356Arg	coding	Pathogenic
11	22250793	T	G	T22250793G	ANO5	NM_213599.2(ANO5):c.1066T>G:p.Cys356Gly	coding	Pathogenic
11	22250805	T	C	T22250805C	ANO5	NM_213599.2(ANO5):c.1078T>C:p.Cys360Arg	coding	Pathogenic
11	22250815	G	A	G22250815A	ANO5	NM_213599.2(ANO5):c.1088G>A:p.Trp363Ter	coding	Pathogenic/Likely_pathogenic
11	22250822	A	G	A22250822G	ANO5	NM_213599.2(ANO5):c.1095A>G:p.Leu365=	coding	Benign/Likely_benign
11	22250927	A	T	A22250927T	ANO5	NM_213599.2(ANO5):c.1120-24A>T	noncoding	Benign/Likely_benign
11	22250950	G	A	G22250950A	ANO5	NM_213599.2(ANO5):c.1120-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	22255397	C	T	C22255397T	ANO5	NM_213599.2(ANO5):c.1207C>T:p.Gln403Ter	coding	Pathogenic
11	22255400	C	T	C22255400T	ANO5	NM_213599.3(ANO5):c.1210C>T:p.Arg404Ter	coding	Pathogenic
11	22255403	C	T	C22255403T	ANO5	NM_213599.2(ANO5):c.1213C>T:p.Gln405Ter	coding	Pathogenic/Likely_pathogenic
11	22255485	C	G	C22255485G	ANO5	NM_213599.2(ANO5):c.1295C>G:p.Ala432Gly	coding	Pathogenic
11	22257442	T	C	T22257442C	ANO5	NM_213599.2(ANO5):c.1333-238T>C	noncoding	Benign
11	22257706	C	G	C22257706G	ANO5	NM_213599.2(ANO5):c.1359C>G:p.Tyr453Ter	coding	Pathogenic
11	22257753	G	A	G22257753A	ANO5	NM_213599.2(ANO5):c.1406G>A:p.Trp469Ter	coding	Pathogenic
11	22257759	G	A	G22257759A	ANO5	NM_213599.2(ANO5):c.1407+5G>A	noncoding	Pathogenic
11	22259520	T	G	T22259520G	ANO5	NM_213599.2(ANO5):c.1409T>G:p.Met470Arg	coding	Pathogenic
11	22259652	C	T	C22259652T	ANO5	NM_213599.2(ANO5):c.1541C>T:p.Thr514Ile	coding	Pathogenic
11	22259655	C	A	C22259655A	ANO5	NM_213599.3(ANO5):c.1544C>A:p.Ser515Ter	coding	Pathogenic
11	22259656	A	G	A22259656G	ANO5	NM_213599.2(ANO5):c.1545A>G:p.Ser515=	coding	Benign/Likely_benign
11	22259922	A	G	A22259922G	ANO5	NM_213599.2(ANO5):c.1630+181A>G	noncoding	Benign
11	22259969	T	G	T22259969G	ANO5	NM_213599.2(ANO5):c.1630+228T>G	noncoding	Benign
11	22262137	C	T	C22262137T	ANO5	NM_213599.2(ANO5):c.1639C>T:p.Arg547Ter	coding	Pathogenic/Likely_pathogenic
11	22262207	C	G	C22262207G	ANO5	NM_213599.2(ANO5):c.1709C>G:p.Ser570Ter	coding	Pathogenic
11	22262231	T	C	T22262231C	ANO5	NM_213599.2(ANO5):c.1733T>C:p.Phe578Ser	coding	Pathogenic
11	22262253	T	A	T22262253A	ANO5	NM_213599.2(ANO5):c.1755T>A:p.Tyr585Ter	coding	Pathogenic
11	22262265	C	A	C22262265A	ANO5	NM_213599.2(ANO5):c.1767C>A:p.Tyr589Ter	coding	Pathogenic/Likely_pathogenic
11	22263044	G	A	G22263044A	ANO5	NM_213599.2(ANO5):c.1898+1G>A	coding	Pathogenic
11	22270368	A	G	A22270368G	ANO5	NM_213599.2(ANO5):c.1955A>G:p.Tyr652Cys	coding	Pathogenic/Likely_pathogenic
11	22270373	C	T	C22270373T	ANO5	NM_213599.2(ANO5):c.1960C>T:p.Arg654Ter	coding	Pathogenic
11	22270431	A	G	A22270431G	ANO5	NM_213599.2(ANO5):c.2018A>G:p.Tyr673Cys	coding	Pathogenic
11	22272990	G	A	G22272990A	ANO5	NM_213599.2(ANO5):c.2235+1G>A	coding	Pathogenic
11	22274605	C	T	C22274605T	ANO5	NM_213599.3(ANO5):c.2272C>T:p.Arg758Cys	coding	Pathogenic
11	22274678	C	G	C22274678G	ANO5	NM_213599.2(ANO5):c.2345C>G:p.Ser782Ter	coding	Pathogenic
11	22274687	T	G	T22274687G	ANO5	NM_213599.2(ANO5):c.2354T>G:p.Leu785Arg	coding	Benign/Likely_benign
11	22274720	C	T	C22274720T	ANO5	NM_213599.2(ANO5):c.2387C>T:p.Ser796Leu	coding	Benign/Likely_benign
11	22275946	A	G	A22275946G	ANO5	NM_213599.2(ANO5):c.2415-148A>G	noncoding	Benign
11	22276092	A	C	A22276092C	ANO5	NM_213599.3(ANO5):c.2415-2A>C	noncoding	Pathogenic
11	22276125	G	T	G22276125T	ANO5	NM_213599.2(ANO5):c.2446G>T:p.Glu816Ter	coding	Pathogenic
11	22276224	G	C	G22276224C	ANO5	NM_213599.2(ANO5):c.2520+25G>C	noncoding	Benign
11	22276405	T	C	T22276405C	ANO5	NM_213599.2(ANO5):c.2520+206T>C	noncoding	Benign
11	22279531	A	G	A22279531G	ANO5	NM_213599.2(ANO5):c.2521-13A>G	noncoding	Benign
11	22279537	C	T	C22279537T	ANO5	NM_213599.2(ANO5):c.2521-7C>T	noncoding	Benign/Likely_benign
11	22279669	C	G	C22279669G	ANO5	NM_213599.2(ANO5):c.2646C>G:p.Asn882Lys	coding	Benign/Likely_benign
11	22280261	A	G	A22280261G	ANO5	NM_213599.2(ANO5):c.*496A>G	noncoding	Benign/Likely_benign
11	22281051	G	T	G22281051T	ANO5	NM_213599.2(ANO5):c.*1286G>T	noncoding	Benign/Likely_benign
11	22281078	A	G	A22281078G	ANO5	NM_213599.2(ANO5):c.*1313A>G	noncoding	Benign/Likely_benign
11	22281194	A	G	A22281194G	ANO5	NM_213599.2(ANO5):c.*1429A>G	noncoding	Benign/Likely_benign
11	22281286	T	C	T22281286C	ANO5	NM_213599.2(ANO5):c.*1521T>C	noncoding	Benign/Likely_benign
11	22282886	A	G	A22282886G	ANO5	NM_213599.3(ANO5):c.*3121A>G	noncoding	Benign
11	22282917	G	A	G22282917A	ANO5	NM_213599.2(ANO5):c.*3152G>A	noncoding	Benign/Likely_benign
11	22282943	C	G	C22282943G	ANO5	NM_213599.2(ANO5):c.*3178C>G	noncoding	Benign
11	22376019	C	T	C22376019T	SLC17A6	NM_020346.3(SLC17A6):c.1212C>T:p.Gly404=	coding	Benign
11	22377563	C	A	C22377563A	SLC17A6	NM_020346.3(SLC17A6):c.1572C>A:p.Leu524=	coding	Benign
11	22377643	A	G	A22377643G	SLC17A6	NM_020346.3(SLC17A6):c.1652A>G:p.Asn551Ser	coding	Benign
11	22622563	C	T	C22622563T	FANCF	NM_022725.3(FANCF):c.*2123G>A	noncoding	Benign
11	22623057	G	A	G22623057A	FANCF	NM_022725.3(FANCF):c.*1629C>T	noncoding	Benign
11	22624054	C	T	C22624054T	FANCF	NM_022725.3(FANCF):c.*632G>A	noncoding	Benign
11	22624225	C	A	C22624225A	FANCF	NM_022725.4(FANCF):c.*461G>T	noncoding	Benign
11	22624367	T	C	T22624367C	FANCF	NM_022725.3(FANCF):c.*319A>G	noncoding	Benign
11	22624479	G	A	G22624479A	FANCF	NM_022725.3(FANCF):c.*207C>T	noncoding	Benign
11	22624580	A	G	A22624580G	FANCF	NM_022725.3(FANCF):c.*106T>C	noncoding	Benign
11	22624841	T	C	T22624841C	FANCF	NM_022725.4(FANCF):c.970A>G:p.Lys324Glu	coding	Benign
11	22624852	G	A	G22624852A	FANCF	NM_022725.3(FANCF):c.959C>T:p.Pro320Leu	coding	Benign
11	22624928	C	T	C22624928T	FANCF	NM_022725.3(FANCF):c.883G>A:p.Val295Ile	coding	Benign
11	22624986	C	T	C22624986T	FANCF	NM_022725.3(FANCF):c.825G>A:p.Leu275=	coding	Benign
11	22625025	T	C	T22625025C	FANCF	NM_022725.3(FANCF):c.786A>G:p.Leu262=	coding	Benign
11	22625187	C	A	C22625187A	FANCF	NM_022725.3(FANCF):c.624G>T:p.Ala208=	coding	Benign
11	22625254	G	A	G22625254A	FANCF	NM_022725.3(FANCF):c.557C>T:p.Ala186Val	coding	Benign/Likely_benign
11	22625315	G	A	G22625315A	FANCF	NM_022725.4(FANCF):c.496C>T:p.Gln166Ter	coding	Pathogenic
11	22625424	G	A	G22625424A	FANCF	NM_022725.3(FANCF):c.387C>T:p.Leu129=	coding	Benign/Likely_benign
11	22625438	C	T	C22625438T	FANCF	NM_022725.3(FANCF):c.373G>A:p.Asp125Asn	coding	Benign/Likely_benign
11	22625484	G	C	G22625484C	FANCF	NM_022725.3(FANCF):c.327C>G:p.Tyr109Ter	coding	Pathogenic
11	22625565	G	A	G22625565A	FANCF	NM_022725.3(FANCF):c.246C>T:p.Asn82=	coding	Benign
11	22625612	T	G	T22625612G	FANCF	NM_022725.3(FANCF):c.199A>C:p.Arg67=	coding	Benign/Likely_benign
11	22625663	G	A	G22625663A	FANCF	NM_022725.4(FANCF):c.148C>T:p.Arg50Trp	coding	Benign
11	22625715	G	A	G22625715A	FANCF	NM_022725.3(FANCF):c.96C>T:p.Arg32=	coding	Benign/Likely_benign
11	22625795	G	A	G22625795A	FANCF	NM_022725.3(FANCF):c.16C>T:p.Gln6Ter	coding	Pathogenic
11	22625809	A	C	A22625809C	FANCF	NM_022725.3(FANCF):c.2T>G:p.Met1Arg	coding	Pathogenic
11	22625820	G	A	G22625820A	FANCF	NM_022725.3(FANCF):c.-10C>T	noncoding	Benign
11	22749123	T	C	T22749123C	GAS2	NM_001143830.2(GAS2):c.477T>C:p.Tyr159=	coding	Benign
11	26442035	C	T	C26442035T	ANO3	NM_031418.4(ANO3):c.164C>T:p.Ser55Phe	coding	Benign
11	26463064	A	G	A26463064G	ANO3	NM_031418.4(ANO3):c.348A>G:p.Ser116=	coding	Benign
11	26525656	C	T	C26525656T	ANO3	NM_031418.4(ANO3):c.714C>T:p.Asp238=	coding	Benign
11	26534449	T	C	T26534449C	ANO3	NM_031418.4(ANO3):c.870-7T>C	noncoding	Benign
11	26537400	T	C	T26537400C	ANO3	NM_031418.4(ANO3):c.977-6T>C	noncoding	Benign
11	26559733	C	T	C26559733T	ANO3	NM_031418.4(ANO3):c.1401C>T:p.Phe467=	coding	Benign
11	26565308	A	G	A26565308G	MUC15	NM_001135091.2(MUC15):c.632T>C:p.Ile211Thr	coding	Benign
11	26565471	C	T	C26565471T	MUC15	NM_001135091.2(MUC15):c.469G>A:p.Asp157Asn	coding	Benign
11	26567044	A	G	A26567044G	MUC15	NM_001135091.2(MUC15):c.43+8T>C	noncoding	Benign
11	26598387	G	T	G26598387T	ANO3	NM_031418.4(ANO3):c.1470G>T:p.Trp490Cys	coding	Pathogenic
11	26598397	A	T	A26598397T	ANO3	NM_031418.4(ANO3):c.1480A>T:p.Arg494Trp	coding	Pathogenic
11	26598445	G	A	G26598445A	ANO3	NM_031418.4(ANO3):c.1528G>A:p.Glu510Lys	coding	Pathogenic/Likely_pathogenic
11	26598855	T	C	T26598855C	ANO3	NM_031418.4(ANO3):c.1531-3T>C	noncoding	Benign
11	26634241	C	T	C26634241T	ANO3	NM_031418.4(ANO3):c.1911C>T:p.Phe637=	coding	Benign
11	26634298	C	T	C26634298T	ANO3	NM_031418.4(ANO3):c.1968C>T:p.Ile656=	coding	Benign/Likely_benign
11	26639153	A	G	A26639153G	ANO3	NM_031418.4(ANO3):c.2053A>G:p.Ser685Gly	coding	Pathogenic
11	26647815	C	T	C26647815T	ANO3	NM_031418.4(ANO3):c.2535C>T:p.Tyr845=	coding	Benign
11	26656134	G	T	G26656134T	ANO3	NM_031418.4(ANO3):c.2586G>T:p.Lys862Asn	coding	Pathogenic
11	26660309	C	T	C26660309T	ANO3	NM_031418.4(ANO3):c.2811C>T:p.Asp937=	coding	Benign
11	26660315	A	G	A26660315G	ANO3	NM_031418.4(ANO3):c.2817A>G:p.Pro939=	coding	Benign
11	26994718	C	T	C26994718T	FIBIN	NM_203371.2(FIBIN):c.192C>T:p.Cys64=	coding	Benign
11	27093232	T	C	T27093232C	BBOX1	NM_003986.3(BBOX1):c.399T>C:p.Tyr133=	coding	Benign
11	27115539	C	T	C27115539T	BBOX1	NM_003986.3(BBOX1):c.621C>T:p.Ala207=	coding	Benign
11	27125747	T	C	T27125747C	BBOX1	NM_003986.3(BBOX1):c.930T>C:p.Phe310=	coding	Benign
11	27368475	C	T	C27368475T	LGR4	NM_018490.5(LGR4):c.2248G>A:p.Ala750Thr	coding	Benign
11	27368673	T	C	T27368673C	LGR4	NM_018490.5(LGR4):c.2050A>G:p.Arg684Gly	coding	Benign
11	27368941	T	C	T27368941C	LGR4	NM_018490.5(LGR4):c.1782A>G:p.Leu594=	coding	Benign
11	27369152	A	C	A27369152C	LGR4	NM_018490.5(LGR4):c.1580-9T>G	noncoding	Benign
11	27657926	C	T	C27657926T	BDNF	NM_001709.5(BDNF):c.639G>A:p.Ser213=	coding	Benign
11	27658019	G	A	G27658019A	BDNF	NM_001709.5(BDNF):c.546C>T:p.Tyr182=	coding	Benign
11	27658115	C	T	C27658115T	BDNF	NM_001709.5(BDNF):c.450G>A:p.Ala150=	coding	Benign
11	27658244	G	C	G27658244C	BDNF	NM_001709.5(BDNF):c.321C>G:p.Leu107=	coding	Benign
11	27658369	C	T	C27658369T	BDNF	NM_001709.5(BDNF):c.196G>A:p.Val66Met	coding	Benign
11	27674218	C	T	C27674218T	BDNF	NM_001709.5(BDNF):c.-21-15633G>A	coding	Benign
11	27699390	C	T	C27699390T	BDNF	NM_001709.5(BDNF):c.-22+774G>A	coding	Benign
11	28021252	G	A	G28021252A	KIF18A	NM_031217.4(KIF18A):c.2645C>T:p.Pro882Leu	coding	Benign
11	28023820	G	A	G28023820A	KIF18A	NM_031217.4(KIF18A):c.2535C>T:p.Asp845=	coding	Benign
11	30012413	C	T	C30012413T	KCNA4	NM_002233.4(KCNA4):c.266G>A:p.Arg89Gln	coding	Pathogenic
11	30233615	T	G	T30233615G	FSHB	NM_000510.3(FSHB):c.205T>G:p.Cys69Gly	coding	Pathogenic
11	30233638	C	T	C30233638T	FSHB	NM_000510.3(FSHB):c.228C>T:p.Tyr76=	coding	Benign
11	30233692	C	A	C30233692A	FSHB	NM_000510.3(FSHB):c.282C>A:p.Tyr94Ter	coding	Pathogenic
11	30233708	T	C	T30233708C	FSHB	NM_000510.3(FSHB):c.298T>C:p.Cys100Arg	coding	Pathogenic
11	30234276	A	G	A30234276G	FSHB	NM_000510.3(FSHB):c.*476A>G	noncoding	Benign
11	30234320	C	G	C30234320G	FSHB	NM_000510.3(FSHB):c.*520C>G	noncoding	Benign
11	30234435	A	G	A30234435G	FSHB	NM_000510.3(FSHB):c.*635A>G	noncoding	Benign
11	30332860	C	A	C30332860A	ARL14EP	NM_152316.3(ARL14EP):c.427-6C>A	noncoding	Benign
11	30332977	A	C	A30332977C	ARL14EP	NM_152316.3(ARL14EP):c.538A>C:p.Thr180Pro	coding	Benign
11	30881290	A	G	A30881290G	DCDC1	NM_020869.3(DCDC1):c.2413T>C:p.Ser805Pro	coding	Benign
11	30899605	C	G	C30899605G	DCDC1	NM_020869.3(DCDC1):c.2013G>C:p.Trp671Cys	coding	Benign
11	30903511	T	C	T30903511C	DCDC1	NM_020869.3(DCDC1):c.1802A>G:p.Lys601Arg	coding	Benign
11	30904978	C	T	C30904978T	DCDC1	NM_020869.3(DCDC1):c.1612G>A:p.Ala538Thr	coding	Benign
11	31539740	T	C	T31539740C	ELP4	NM_019040.5(ELP4):c.338T>C:p.Leu113Ser	coding	Benign
11	31632376	A	C	A31632376C	ELP4	NM_019040.5(ELP4):c.898A>C:p.Ile300Leu	coding	Benign
11	31650129	C	T	C31650129T	ELP4	NM_019040.5(ELP4):c.1051C>T:p.Arg351Trp	coding	Benign
11	31664397	C	A	C31664397A	ELP4	NM_019040.5(ELP4):c.1143+14176C>A	noncoding	Pathogenic
11	31783430	G	C	G31783430C	ELP4	NM_019040.5(ELP4):c.1181G>C:p.Ser394Thr	coding	Benign
11	31783469	G	T	G31783469T	ELP4	NM_019040.5(ELP4):c.1220G>T:p.Arg407Leu	coding	Benign
11	31783497	C	T	C31783497T	ELP4	NM_019040.5(ELP4):c.1248C>T:p.Ala416=	coding	Benign
11	31784826	T	C	T31784826C	PAX6	NM_019040.5(ELP4):c.*1302T>C	noncoding	Benign/Likely_benign
11	31785335	A	C	A31785335C	PAX6	NM_019040.5(ELP4):c.*1811A>C	noncoding	Benign/Likely_benign
11	31785564	G	C	G31785564C	PAX6	NM_019040.5(ELP4):c.*2040G>C	noncoding	Benign/Likely_benign
11	31785638	C	G	C31785638G	PAX6	NM_019040.5(ELP4):c.*2114C>G	noncoding	Benign
11	31785976	C	T	C31785976T	PAX6	NM_019040.5(ELP4):c.*2452C>T	noncoding	Benign
11	31786049	C	A	C31786049A	PAX6	NM_019040.5(ELP4):c.*2525C>A	noncoding	Benign/Likely_benign
11	31786732	C	T	C31786732T	PAX6	NM_019040.5(ELP4):c.*3208C>T	noncoding	Benign
11	31786949	C	T	C31786949T	PAX6	NM_019040.5(ELP4):c.*3425C>T	noncoding	Benign/Likely_benign
11	31787033	A	G	A31787033G	PAX6	NM_019040.5(ELP4):c.*3509A>G	noncoding	Benign/Likely_benign
11	31787227	G	A	G31787227A	PAX6	NM_019040.5(ELP4):c.*3703G>A	noncoding	Benign
11	31787237	A	T	A31787237T	PAX6	NM_019040.5(ELP4):c.*3713A>T	noncoding	Benign/Likely_benign
11	31787375	C	T	C31787375T	PAX6	NM_019040.5(ELP4):c.*3851C>T	noncoding	Benign
11	31787518	C	A	C31787518A	PAX6	NM_019040.5(ELP4):c.*3994C>A	noncoding	Benign/Likely_benign
11	31787522	C	T	C31787522T	PAX6	NM_019040.5(ELP4):c.*3998C>T	noncoding	Benign
11	31787629	C	T	C31787629T	PAX6	NM_019040.5(ELP4):c.*4105C>T	noncoding	Benign
11	31787696	A	C	A31787696C	PAX6	NM_019040.5(ELP4):c.*4172A>C	noncoding	Benign/Likely_benign
11	31787774	C	T	C31787774T	PAX6	NM_019040.5(ELP4):c.*4250C>T	noncoding	Benign
11	31788456	G	A	G31788456A	PAX6	NM_019040.5(ELP4):c.*4932G>A	noncoding	Benign/Likely_benign
11	31788498	C	T	C31788498T	PAX6	NM_019040.5(ELP4):c.*4974C>T	noncoding	Benign/Likely_benign
11	31788750	T	A	T31788750A	PAX6	NM_019040.5(ELP4):c.*5226T>A	noncoding	Benign
11	31788871	T	C	T31788871C	PAX6	NM_019040.5(ELP4):c.*5347T>C	noncoding	Benign
11	31789092	C	T	C31789092T	PAX6	NM_001368894.2(PAX6):c.*842G>A	noncoding	Benign
11	31789517	G	A	G31789517A	PAX6	NM_019040.5(ELP4):c.*5993G>A	noncoding	Benign/Likely_benign
11	31789936	A	G	A31789936G	PAX6	NM_019040.5(ELP4):c.*6412A>G	coding	Pathogenic
11	31790020	C	G	C31790020G	PAX6	NM_019040.5(ELP4):c.*6496C>G	coding	Pathogenic
11	31790021	T	C	T31790021C	PAX6	NM_019040.5(ELP4):c.*6497T>C	noncoding	Pathogenic
11	31790705	C	T	C31790705T	PAX6	NM_000280.4(PAX6):c.1183+5G>A	noncoding	Pathogenic
11	31790708	A	G	A31790708G	PAX6	NM_000280.4(PAX6):c.1183+2T>C	noncoding	Pathogenic
11	31790709	C	A	C31790709A	PAX6	NM_000280.4(PAX6):c.1183+1G>T	noncoding	Pathogenic
11	31790709	C	T	C31790709T	PAX6	NM_000280.4(PAX6):c.1183+1G>A	noncoding	Pathogenic
11	31790710	C	A	C31790710A	PAX6	NM_000280.4(PAX6):c.1183G>T:p.Gly395Ter	coding	Pathogenic
11	31790710	C	G	C31790710G	PAX6	NM_000280.4(PAX6):c.1183G>C:p.Gly395Arg	coding	Pathogenic
11	31790722	T	C	T31790722C	PAX6	NM_001368911.1(PAX6):c.1078-703A>G	coding	Pathogenic
11	31790805	G	T	G31790805T	PAX6	NM_000280.4(PAX6):c.1088C>A:p.Ser363Ter	coding	Pathogenic/Likely_pathogenic
11	31790831	G	C	G31790831C	PAX6	NM_000280.4(PAX6):c.1062C>G:p.Tyr354Ter	coding	Pathogenic
11	31790835	G	C	G31790835C	PAX6	NM_000280.4(PAX6):c.1058C>G:p.Ser353Ter	coding	Pathogenic
11	31790861	C	T	C31790861T	PAX6	NM_000280.4(PAX6):c.1033-1G>A	coding	Pathogenic
11	31790862	T	C	T31790862C	PAX6	NM_000280.4(PAX6):c.1033-2A>G	noncoding	Pathogenic
11	31791034	C	T	C31791034T	PAX6	NM_000280.4(PAX6):c.1033-174G>A	noncoding	Benign
11	31793331	G	A	G31793331A	PAX6	NM_000280.4(PAX6):c.1032+107C>T	coding	Benign
11	31793437	C	T	C31793437T	PAX6	NM_001368894.2(PAX6):c.1074+1G>A	coding	Pathogenic
11	31793521	G	A	G31793521A	PAX6	NM_000280.4(PAX6):c.949C>T:p.Arg317Ter	coding	Pathogenic
11	31793554	C	G	C31793554G	PAX6	NM_000280.4(PAX6):c.917-1G>C	coding	Pathogenic
11	31793554	C	T	C31793554T	PAX6	NM_000280.4(PAX6):c.917-1G>A	coding	Pathogenic
11	31793555	T	A	T31793555A	PAX6	NM_000280.4(PAX6):c.917-2A>T	noncoding	Pathogenic
11	31793556	G	C	G31793556C	PAX6	NM_000280.4(PAX6):c.917-3C>G	noncoding	Pathogenic
11	31793650	A	G	A31793650G	PAX6	NM_000280.4(PAX6):c.916+2T>C	noncoding	Pathogenic
11	31793651	C	A	C31793651A	PAX6	NM_000280.4(PAX6):c.916+1G>T	noncoding	Pathogenic
11	31793651	C	G	C31793651G	PAX6	NM_000280.4(PAX6):c.916+1G>C	noncoding	Pathogenic
11	31793651	C	T	C31793651T	PAX6	NM_000280.4(PAX6):c.916+1G>A	noncoding	Pathogenic
11	31793739	G	A	G31793739A	PAX6	NM_000280.4(PAX6):c.829C>T:p.Gln277Ter	coding	Pathogenic
11	31793748	G	A	G31793748A	PAX6	NM_000280.4(PAX6):c.820C>T:p.Gln274Ter	coding	Pathogenic
11	31793766	C	A	C31793766A	PAX6	NM_000280.4(PAX6):c.802G>T:p.Glu268Ter	coding	Pathogenic
11	31793774	C	T	C31793774T	PAX6	NM_000280.4(PAX6):c.794G>A:p.Trp265Ter	coding	Pathogenic
11	31793787	G	A	G31793787A	PAX6	NM_000280.4(PAX6):c.781C>T:p.Arg261Ter	coding	Pathogenic
11	31793795	A	G	A31793795G	PAX6	NM_000280.4(PAX6):c.773T>C:p.Phe258Ser	coding	Pathogenic
11	31793797	C	T	C31793797T	PAX6	NM_000280.4(PAX6):c.771G>A:p.Trp257Ter	coding	Pathogenic
11	31793798	C	T	C31793798T	PAX6	NM_000280.4(PAX6):c.770G>A:p.Trp257Ter	coding	Pathogenic
11	31793803	C	G	C31793803G	PAX6	NM_000280.4(PAX6):c.766-1G>C	coding	Pathogenic
11	31793803	C	T	C31793803T	PAX6	NM_000280.4(PAX6):c.766-1G>A	coding	Pathogenic
11	31793804	T	G	T31793804G	PAX6	NM_000280.4(PAX6):c.766-2A>C	noncoding	Pathogenic
11	31793814	G	A	G31793814A	PAX6	NM_000280.4(PAX6):c.766-12C>T	noncoding	Benign
11	31794032	C	G	C31794032G	PAX6	NM_000280.4(PAX6):c.765G>C:p.Gln255His	coding	Pathogenic
11	31794072	C	G	C31794072G	PAX6	NM_000280.4(PAX6):c.725G>C:p.Arg242Thr	coding	Pathogenic
11	31794079	G	A	G31794079A	PAX6	NM_000280.4(PAX6):c.718C>T:p.Arg240Ter	coding	Pathogenic
11	31794115	C	G	C31794115G	PAX6	NM_000280.4(PAX6):c.683-1G>C	coding	Pathogenic
11	31794651	G	A	G31794651A	PAX6	NM_000280.4(PAX6):c.661C>T:p.Gln221Ter	coding	Pathogenic
11	31794672	T	C	T31794672C	PAX6	NM_000280.4(PAX6):c.640A>G:p.Arg214Gly	coding	Pathogenic
11	31794690	G	A	G31794690A	PAX6	NM_000280.4(PAX6):c.622C>T:p.Arg208Trp	coding	Pathogenic/Likely_pathogenic
11	31794699	G	A	G31794699A	PAX6	NM_000280.4(PAX6):c.613C>T:p.Gln205Ter	coding	Pathogenic
11	31794705	G	A	G31794705A	PAX6	NM_000280.4(PAX6):c.607C>T:p.Arg203Ter	coding	Pathogenic
11	31794774	G	A	G31794774A	PAX6	NM_000280.4(PAX6):c.538C>T:p.Gln180Ter	coding	Pathogenic
11	31794781	G	T	G31794781T	PAX6	NM_000280.4(PAX6):c.531C>A:p.Cys177Ter	coding	Pathogenic
11	31794789	C	T	C31794789T	PAX6	NM_000280.4(PAX6):c.524-1G>A	coding	Pathogenic
11	31794790	T	C	T31794790C	PAX6	NM_000280.4(PAX6):c.524-2A>G	noncoding	Pathogenic
11	31800703	G	A	G31800703A	PAX6	NM_000280.4(PAX6):c.511C>T:p.Gln171Ter	coding	Pathogenic
11	31800714	G	T	G31800714T	PAX6	NM_000280.4(PAX6):c.500C>A:p.Ser167Ter	coding	Pathogenic
11	31800725	A	C	A31800725C	PAX6	NM_000280.4(PAX6):c.489T>G:p.Tyr163Ter	coding	Pathogenic
11	31800728	C	T	C31800728T	PAX6	NM_000280.4(PAX6):c.486G>A:p.Trp162Ter	coding	Pathogenic
11	31800729	C	T	C31800729T	PAX6	NM_001368894.2(PAX6):c.527G>A:p.Trp176Ter	coding	Pathogenic
11	31800746	C	T	C31800746T	PAX6	NM_000280.4(PAX6):c.468G>A:p.Trp156Ter	coding	Pathogenic
11	31800747	C	T	C31800747T	PAX6	NM_000280.4(PAX6):c.467G>A:p.Trp156Ter	coding	Pathogenic
11	31800808	G	A	G31800808A	PAX6	NM_001310160.1(PAX6):c.-3C>T	coding	Pathogenic
11	31800811	G	A	G31800811A	PAX6	NM_000280.4(PAX6):c.403C>T:p.Gln135Ter	coding	Pathogenic
11	31800832	G	A	G31800832A	PAX6	NM_000280.4(PAX6):c.382C>T:p.Arg128Cys	coding	Pathogenic
11	31800837	A	T	A31800837T	PAX6	NM_001310160.1(PAX6):c.-32T>A	coding	Pathogenic
11	31800849	G	C	G31800849C	PAX6	NM_000280.4(PAX6):c.365C>G:p.Ser122Ter	coding	Pathogenic
11	31800857	C	T	C31800857T	PAX6	NM_000280.4(PAX6):c.358-1G>A	coding	Pathogenic
11	31800858	T	C	T31800858C	PAX6	NM_000280.4(PAX6):c.358-2A>G	noncoding	Pathogenic
11	31801557	T	A	T31801557A	PAX6	NM_000280.4(PAX6):c.357+4A>T	coding	Pathogenic
11	31801560	C	T	C31801560T	PAX6	NM_000280.4(PAX6):c.357+1G>A	coding	Pathogenic
11	31801561	G	C	G31801561C	PAX6	NM_000280.4(PAX6):c.357C>G:p.Ser119Arg	coding	Pathogenic
11	31801561	G	T	G31801561T	PAX6	NM_001310160.1(PAX6):c.-383C>A	coding	Pathogenic
11	31801591	C	T	C31801591T	PAX6	NM_000280.4(PAX6):c.327G>A:p.Glu109=	coding	Benign/Likely_benign
11	31801593	C	A	C31801593A	PAX6	NM_000280.4(PAX6):c.325G>T:p.Glu109Ter	coding	Pathogenic
11	31801611	G	A	G31801611A	PAX6	NM_000280.4(PAX6):c.307C>T:p.Arg103Ter	coding	Pathogenic
11	31801613	A	T	A31801613T	PAX6	NM_001604.5(PAX6):c.347T>A:p.Ile116Asn	coding	Pathogenic
11	31801618	C	T	C31801618T	PAX6	NM_000280.4(PAX6):c.300G>A:p.Trp100Ter	coding	Pathogenic
11	31801619	C	T	C31801619T	PAX6	NM_001310160.1(PAX6):c.-441G>A	coding	Pathogenic
11	31801653	G	A	G31801653A	PAX6	NM_000280.4(PAX6):c.265C>T:p.Gln89Ter	coding	Pathogenic
11	31801674	C	A	C31801674A	PAX6	NM_000280.4(PAX6):c.244G>T:p.Glu82Ter	coding	Pathogenic
11	31801716	G	A	G31801716A	PAX6	NM_001310160.1(PAX6):c.-538C>T	coding	Pathogenic
11	31801719	T	A	T31801719A	PAX6	NM_000280.4(PAX6):c.199A>T:p.Arg67Ter	coding	Pathogenic
11	31801727	C	A	C31801727A	PAX6	NM_000280.4(PAX6):c.191G>T:p.Gly64Val	coding	Pathogenic
11	31801734	C	A	C31801734A	PAX6	NM_000280.4(PAX6):c.184G>T:p.Glu62Ter	coding	Pathogenic
11	31801735	G	C	G31801735C	PAX6	NM_000280.4(PAX6):c.183C>G:p.Tyr61Ter	coding	Pathogenic
11	31801755	T	A	T31801755A	PAX6	NM_000280.4(PAX6):c.163A>T:p.Lys55Ter	coding	Pathogenic
11	31801760	A	C	A31801760C	PAX6	NM_000280.4(PAX6):c.158T>G:p.Val53Gly	coding	Pathogenic
11	31801766	C	A	C31801766A	PAX6	NM_000280.4(PAX6):c.152G>T:p.Gly51Val	coding	Pathogenic/Likely_pathogenic
11	31801767	C	T	C31801767T	PAX6	NM_000280.4(PAX6):c.151G>A:p.Gly51Arg	coding	Pathogenic
11	31801777	C	T	C31801777T	PAX6	NM_000280.4(PAX6):c.142-1G>A	coding	Pathogenic
11	31801778	T	C	T31801778C	PAX6	NM_000280.4(PAX6):c.142-2A>G	noncoding	Pathogenic
11	31801893	A	T	A31801893T	PAX6	NM_000280.4(PAX6):c.142-117T>A	coding	Pathogenic
11	31802700	T	A	T31802700A	PAX6	NM_000280.4(PAX6):c.141+4A>T	noncoding	Pathogenic
11	31802702	A	C	A31802702C	PAX6	NM_000280.4(PAX6):c.141+2T>G	noncoding	Pathogenic
11	31802703	C	G	C31802703G	PAX6	NM_000280.4(PAX6):c.141+1G>C	noncoding	Pathogenic
11	31802703	C	T	C31802703T	PAX6	NM_000280.4(PAX6):c.141+1G>A	noncoding	Pathogenic
11	31802705	T	C	T31802705C	PAX6	NM_000280.4(PAX6):c.140A>G:p.Gln47Arg	coding	Pathogenic
11	31802705	T	G	T31802705G	PAX6	NM_000280.4(PAX6):c.140A>C:p.Gln47Pro	coding	Pathogenic
11	31802706	G	A	G31802706A	PAX6	NM_000280.4(PAX6):c.139C>T:p.Gln47Ter	coding	Pathogenic
11	31802714	C	G	C31802714G	PAX6	NM_000280.4(PAX6):c.131G>C:p.Arg44Pro	coding	Pathogenic
11	31802715	G	A	G31802715A	PAX6	NM_000280.4(PAX6):c.130C>T:p.Arg44Ter	coding	Pathogenic
11	31802715	G	T	G31802715T	PAX6	NM_000280.4(PAX6):c.130C>A:p.Arg44=	coding	Benign
11	31802725	G	T	G31802725T	PAX6	NM_000280.4(PAX6):c.120C>A:p.Cys40Ter	coding	Pathogenic
11	31802733	G	A	G31802733A	PAX6	NM_001310160.1(PAX6):c.-670C>T	coding	Pathogenic
11	31802733	G	C	G31802733C	PAX6	NM_000280.4(PAX6):c.112C>G:p.Arg38Gly	coding	Pathogenic
11	31802769	G	C	G31802769C	PAX6	NM_000280.4(PAX6):c.76C>G:p.Arg26Gly	coding	Pathogenic/Likely_pathogenic
11	31802793	C	G	C31802793G	PAX6	NM_000280.4(PAX6):c.52G>C:p.Gly18Arg	coding	Pathogenic/Likely_pathogenic
11	31802817	G	A	G31802817A	PAX6	NM_001368894.2(PAX6):c.28C>T:p.Gln10Ter	coding	Pathogenic
11	31802826	C	A	C31802826A	PAX6	NM_000280.4(PAX6):c.19G>T:p.Gly7Ter	coding	Pathogenic
11	31802836	T	C	T31802836C	PAX6	NM_000280.4(PAX6):c.11-2A>G	coding	Pathogenic
11	31806397	C	G	C31806397G	PAX6	NM_000280.4(PAX6):c.10+5G>C	noncoding	Pathogenic
11	31806401	C	G	C31806401G	PAX6	NM_000280.4(PAX6):c.10+1G>C	noncoding	Pathogenic
11	31806409	C	A	C31806409A	PAX6	NM_000280.4(PAX6):c.3G>T:p.Met1Ile	coding	Pathogenic
11	31806409	C	T	C31806409T	PAX6	NM_000280.4(PAX6):c.3G>A:p.Met1Ile	coding	Pathogenic
11	31806411	T	C	T31806411C	PAX6	NM_000280.4(PAX6):c.1A>G:p.Met1Val	coding	Pathogenic
11	31806411	T	G	T31806411G	PAX6	NM_000280.4(PAX6):c.1A>C:p.Met1Leu	coding	Pathogenic
11	31806848	C	T	C31806848T	PAX6	NM_000280.4(PAX6):c.-52+1G>A	noncoding	Pathogenic
11	31810819	C	T	C31810819T	PAX6	NM_000280.4(PAX6):c.-129+9G>A	noncoding	Benign/Likely_benign
11	31810826	A	T	A31810826T	PAX6	NM_000280.4(PAX6):c.-129+2T>A	noncoding	Pathogenic
11	31810827	C	T	C31810827T	PAX6	NM_000280.4(PAX6):c.-129+1G>A	noncoding	Pathogenic
11	32098358	G	A	G32098358A	RCN1	NM_002901.4(RCN1):c.457G>A:p.Ala153Thr	coding	Benign
11	32100575	G	A	G32100575A	RCN1	NM_002901.4(RCN1):c.655G>A:p.Gly219Arg	coding	Benign
11	32104415	C	T	C32104415T	RCN1	NM_002901.4(RCN1):c.939C>T:p.Val313=	coding	Benign
11	32387819	A	T	A32387819T	WT1	NM_024426.6(WT1):c.*1239T>A	noncoding	Benign/Likely_benign
11	32387849	T	C	T32387849C	WT1	NM_024426.6(WT1):c.*1209A>G	noncoding	Benign/Likely_benign
11	32387926	T	A	T32387926A	WT1	NM_024426.6(WT1):c.*1132A>T	noncoding	Benign/Likely_benign
11	32387960	G	A	G32387960A	WT1	NM_024426.6(WT1):c.*1098C>T	noncoding	Benign/Likely_benign
11	32388155	C	T	C32388155T	WT1	NM_024426.6(WT1):c.*903G>A	noncoding	Benign/Likely_benign
11	32388194	A	C	A32388194C	WT1	NM_024426.6(WT1):c.*864T>G	noncoding	Benign/Likely_benign
11	32388194	A	T	A32388194T	WT1	NM_024426.6(WT1):c.*864T>A	noncoding	Benign/Likely_benign
11	32388223	T	C	T32388223C	WT1	NM_024426.6(WT1):c.*835A>G	noncoding	Benign/Likely_benign
11	32388238	C	G	C32388238G	WT1	NM_024426.6(WT1):c.*820G>C	noncoding	Benign
11	32388456	T	C	T32388456C	WT1	NM_024426.6(WT1):c.*602A>G	noncoding	Benign
11	32388713	C	T	C32388713T	WT1	NM_024426.6(WT1):c.*345G>A	noncoding	Benign/Likely_benign
11	32388791	C	G	C32388791G	WT1	NM_024426.6(WT1):c.*267G>C	noncoding	Benign
11	32388834	T	C	T32388834C	WT1	NM_024426.6(WT1):c.*224A>G	noncoding	Benign
11	32388970	T	C	T32388970C	WT1	NM_024426.6(WT1):c.*88A>G	noncoding	Benign
11	32389042	C	A	C32389042A	WT1	NM_024426.6(WT1):c.*16G>T	noncoding	Benign/Likely_benign
11	32389189	C	T	C32389189T	WT1	NM_024426.6(WT1):c.1448-10G>A	noncoding	Benign
11	32389228	A	G	A32389228G	WT1	NM_024426.6(WT1):c.1448-49T>C	noncoding	Benign
11	32391966	A	T	A32391966T	WT1	NM_024426.6(WT1):c.1447+6T>A	noncoding	Pathogenic
11	32391967	C	T	C32391967T	WT1	NM_024426.6(WT1):c.1447+5G>A	noncoding	Pathogenic
11	32391968	G	A	G32391968A	WT1	NM_024426.6(WT1):c.1447+4C>T	noncoding	Pathogenic
11	32391982	T	C	T32391982C	WT1	NM_024426.6(WT1):c.1437A>G:p.Thr479=	coding	Pathogenic
11	32392013	T	C	T32392013C	WT1	NM_024426.6(WT1):c.1406A>G:p.Asp469Gly	coding	Pathogenic
11	32392014	C	T	C32392014T	WT1	NM_024426.6(WT1):c.1405G>A:p.Asp469Asn	coding	Pathogenic
11	32392019	C	G	C32392019G	WT1	NM_024426.6(WT1):c.1400G>C:p.Arg467Pro	coding	Pathogenic
11	32392019	C	T	C32392019T	WT1	NM_024426.6(WT1):c.1400G>A:p.Arg467Gln	coding	Pathogenic
11	32392020	G	A	G32392020A	WT1	NM_024426.6(WT1):c.1399C>T:p.Arg467Trp	coding	Pathogenic
11	32392026	A	G	A32392026G	WT1	NM_024426.6(WT1):c.1393T>C:p.Phe465Leu	coding	Pathogenic
11	32392032	G	A	G32392032A	WT1	NM_024426.6(WT1):c.1387C>T:p.Arg463Ter	coding	Pathogenic
11	32392053	A	G	A32392053G	WT1	NM_024426.6(WT1):c.1366T>C:p.Phe456Leu	coding	Pathogenic
11	32392672	G	A	G32392672A	WT1	NM_024426.6(WT1):c.1348C>T:p.His450Tyr	coding	Pathogenic
11	32392682	G	C	G32392682C	WT1	NM_024426.6(WT1):c.1338C>G:p.His446Gln	coding	Pathogenic
11	32392704	C	T	C32392704T	WT1	NM_024426.6(WT1):c.1316G>A:p.Arg439His	coding	Pathogenic
11	32392705	G	A	G32392705A	WT1	NM_024426.6(WT1):c.1315C>T:p.Arg439Cys	coding	Pathogenic
11	32392717	G	A	G32392717A	WT1	NM_024426.6(WT1):c.1303C>T:p.Arg435Ter	coding	Pathogenic
11	32392723	A	C	A32392723C	WT1	NM_024426.6(WT1):c.1297T>G:p.Cys433Gly	coding	Pathogenic
11	32392787	G	T	G32392787T	WT1	NM_024426.6(WT1):c.1265-32C>A	noncoding	Benign
11	32392807	C	A	C32392807A	WT1	NM_024426.6(WT1):c.1265-52G>T	noncoding	Benign
11	32396123	A	T	A32396123T	WT1	NM_024426.6(WT1):c.1264+134T>A	noncoding	Benign
11	32396313	C	T	C32396313T	WT1	NM_024426.6(WT1):c.1208G>A:p.Cys403Tyr	coding	Pathogenic
11	32396360	T	C	T32396360C	WT1	NM_024426.6(WT1):c.1161A>G:p.Ala387=	coding	Benign
11	32396399	T	C	T32396399C	WT1	NM_024426.6(WT1):c.1122A>G:p.Arg374=	coding	Benign
11	32396399	T	G	T32396399G	WT1	NM_024426.6(WT1):c.1122A>C:p.Arg374=	coding	Benign
11	32396401	G	A	G32396401A	WT1	NM_024426.6(WT1):c.1120C>T:p.Arg374Ter	coding	Pathogenic
11	32396416	A	G	A32396416G	WT1	NM_024426.6(WT1):c.1114-9T>C	noncoding	Benign/Likely_benign
11	32399987	T	C	T32399987C	WT1	NM_024426.6(WT1):c.1074A>G:p.Gln358=	coding	Benign
11	32400025	T	C	T32400025C	WT1	NM_024426.6(WT1):c.1036A>G:p.Ser346Gly	coding	Pathogenic
11	32427940	C	T	C32427940T	WT1	NM_024426.6(WT1):c.887+16G>A	noncoding	Benign
11	32427961	G	T	G32427961T	WT1	NM_024426.6(WT1):c.882C>A:p.Tyr294Ter	coding	Pathogenic
11	32428078	C	A	C32428078A	WT1	NM_024426.6(WT1):c.785-20G>T	noncoding	Benign/Likely_benign
11	32434752	G	A	G32434752A	WT1	NM_024426.6(WT1):c.609C>T:p.Asn203=	coding	Benign
11	32434815	G	T	G32434815T	WT1	NM_024426.6(WT1):c.546C>A:p.Tyr182Ter	coding	Pathogenic
11	32434818	G	A	G32434818A	WT1	NM_024426.6(WT1):c.543C>T:p.Arg181=	coding	Benign
11	32434848	G	T	G32434848T	WT1	NM_024426.6(WT1):c.513C>A:p.Gly171=	coding	Benign/Likely_benign
11	32434883	G	A	G32434883A	WT1	NM_024426.6(WT1):c.478C>T:p.Gln160Ter	coding	Pathogenic
11	32434889	C	A	C32434889A	WT1	NM_024426.6(WT1):c.472G>T:p.Glu158Ter	coding	Pathogenic
11	32435016	G	A	G32435016A	WT1	NM_024426.6(WT1):c.345C>T:p.Pro115=	coding	Benign
11	32435083	C	G	C32435083G	WT1	NM_024426.6(WT1):c.278G>C:p.Gly93Ala	coding	Pathogenic
11	32435111	G	A	G32435111A	WT1	NM_024426.6(WT1):c.250C>T:p.Leu84=	coding	Pathogenic
11	32435145	C	A	C32435145A	WT1	NM_024426.6(WT1):c.216G>T:p.Gln72His	coding	Benign/Likely_benign
11	32435148	C	A	C32435148A	WT1	NM_024426.6(WT1):c.213G>T:p.Pro71=	coding	Benign
11	32435180	G	T	G32435180T	WT1	NM_024426.6(WT1):c.181C>A:p.Arg61=	coding	Benign/Likely_benign
11	32435592	A	G	A32435592G	WT1	NC_000011.10:g.32435592A>G	noncoding	Benign
11	32969134	A	G	A32969134G	QSER1	NM_001076786.3(QSER1):c.5196A>G:p.Gln1732=	coding	Benign
11	33032957	T	G	T33032957G	DEPDC7	NM_001077242.2(DEPDC7):c.1332T>G:p.Asn444Lys	coding	Benign
11	33338835	G	A	G33338835A	HIPK3	NM_005734.5(HIPK3):c.1420G>A:p.Val474Ile	coding	Benign
11	33543792	T	C	T33543792C	KIAA1549L	NM_012194.3(KIAA1549L):c.2229T>C:p.Pro743=	coding	Benign
11	33574770	C	T	C33574770T	KIAA1549L	NM_012194.3(KIAA1549L):c.4299C>T:p.Asn1433=	coding	Benign
11	33645878	G	A	G33645878A	KIAA1549L	NM_012194.3(KIAA1549L):c.5602G>A:p.Gly1868Ser	coding	Benign
11	33667983	G	A	G33667983A	KIAA1549L	NM_012194.3(KIAA1549L):c.6270G>A:p.Leu2090=	coding	Benign
11	33710247	C	T	C33710247T	CD59	NM_203330.2(CD59):c.266G>A:p.Cys89Tyr	coding	Pathogenic
11	33710291	G	A	G33710291A	CD59	NM_000611.6(CD59):c.222C>T:p.Asp74=	coding	Benign
11	33717413	G	C	G33717413C	CD59	NM_000611.6(CD59):c.126C>G:p.Val42=	coding	Benign
11	33722392	G	A	G33722392A	CD59	NM_000611.6(CD59):c.54C>T:p.Val18=	coding	Benign
11	33722428	C	T	C33722428T	CD59	NM_000611.6(CD59):c.18G>A:p.Gly6=	coding	Benign
11	33859497	G	A	G33859497A	LMO2	NM_005574.4(LMO2):c.543C>T:p.Asp181=	coding	Benign
11	34108810	T	C	T34108810C	NAT10	NM_024662.3(NAT10):c.177T>C:p.Tyr59=	coding	Benign
11	34112220	G	A	G34112220A	NAT10	NM_024662.3(NAT10):c.369G>A:p.Leu123=	coding	Benign
11	34113709	C	T	C34113709T	NAT10	NM_024662.3(NAT10):c.373-7C>T	noncoding	Benign
11	34113802	C	T	C34113802T	NAT10	NM_024662.3(NAT10):c.459C>T:p.Thr153=	coding	Benign
11	34118231	G	A	G34118231A	NAT10	NM_024662.3(NAT10):c.609G>A:p.Gln203=	coding	Benign
11	34118293	C	T	C34118293T	NAT10	NM_024662.3(NAT10):c.671C>T:p.Pro224Leu	coding	Benign
11	34133094	C	T	C34133094T	NAT10	NM_024662.3(NAT10):c.1686C>T:p.Pro562=	coding	Benign
11	34142354	G	C	G34142354C	NAT10	NM_024662.3(NAT10):c.2885+6G>C	noncoding	Benign
11	34143506	G	A	G34143506A	NAT10	NM_024662.3(NAT10):c.2947G>A:p.Ala983Thr	coding	Benign
11	34438994	T	C	T34438994C	CAT	NM_001752.4(CAT):c.-20T>C	noncoding	Benign
11	34450983	G	A	G34450983A	CAT	NM_001752.4(CAT):c.239-5G>A	noncoding	Benign
11	34451076	C	T	C34451076T	CAT	NM_001752.4(CAT):c.327C>T:p.Ile109=	coding	Benign
11	34451102	A	T	A34451102T	CAT	NM_001752.4(CAT):c.349+4A>T	noncoding	Benign
11	34452212	G	A	G34452212A	CAT	NM_001752.4(CAT):c.480+5G>A	noncoding	Pathogenic
11	34453164	C	T	C34453164T	CAT	NM_001752.4(CAT):c.555C>T:p.Phe185=	coding	Benign
11	34453174	C	T	C34453174T	CAT	NM_001752.4(CAT):c.565C>T:p.Arg189Cys	coding	Benign
11	34456025	C	A	C34456025A	CAT	NM_001752.4(CAT):c.726C>A:p.Ile242=	coding	Benign
11	34461361	C	T	C34461361T	CAT	NM_001752.4(CAT):c.1167C>T:p.Asp389=	coding	Benign
11	34464164	C	T	C34464164T	CAT	NM_001752.4(CAT):c.1255C>T:p.Leu419=	coding	Benign
11	34470999	C	T	C34470999T	CAT	NM_001752.4(CAT):c.1476C>T:p.His492=	coding	Benign
11	34471409	G	A	G34471409A	CAT	NM_001752.4(CAT):c.1560G>A:p.Ala520=	coding	Benign
11	34471438	G	C	G34471438C	CAT	NM_001752.4(CAT):c.*5G>C	noncoding	Benign
11	34649059	C	T	C34649059T	EHF	NM_012153.6(EHF):c.384C>T:p.Val128=	coding	Benign
11	34915816	C	T	C34915816T	PDHX	NM_015957.4(APIP):c.57+412G>A	noncoding	Benign
11	34915869	G	A	G34915869A	PDHX	NM_015957.4(APIP):c.57+359C>T	noncoding	Benign
11	34915939	G	C	G34915939C	PDHX	NM_015957.4(APIP):c.57+289C>G	noncoding	Benign
11	34916150	T	C	T34916150C	PDHX	NM_015957.4(APIP):c.57+78A>G	coding	Benign
11	34916151	G	A	G34916151A	PDHX	NM_015957.4(APIP):c.57+77C>T	coding	Benign
11	34916266	G	A	G34916266A	PDHX	NM_015957.4(APIP):c.19C>T:p.Arg7Trp	coding	Benign
11	34916337	G	A	G34916337A	PDHX	NM_015957.4(APIP):c.-53C>T	noncoding	Benign
11	34916354	A	G	A34916354G	PDHX	NM_015957.4(APIP):c.-70T>C	noncoding	Benign
11	34916384	G	A	G34916384A	PDHX	NM_001135024.1(PDHX):c.13G>A:p.Gly5Ser	coding	Benign
11	34916454	A	G	A34916454G	PDHX	NM_001135024.1(PDHX):c.83A>G:p.Glu28Gly	coding	Benign
11	34916527	C	T	C34916527T	PDHX	NM_001135024.1(PDHX):c.115+41C>T	coding	Benign
11	34916532	G	C	G34916532C	PDHX	NM_001135024.1(PDHX):c.115+46G>C	coding	Benign
11	34916568	C	A	C34916568A	PDHX	NM_001135024.1(PDHX):c.115+82C>A	coding	Benign
11	34916633	C	A	C34916633A	PDHX	NM_003477.3(PDHX):c.-23C>A	coding	Benign
11	34916652	C	G	C34916652G	PDHX	NM_003477.3(PDHX):c.-4C>G	coding	Benign
11	34916718	C	T	C34916718T	PDHX	NM_003477.3(PDHX):c.63C>T:p.Pro21=	coding	Benign
11	34916722	C	T	C34916722T	PDHX	NM_003477.3(PDHX):c.67C>T:p.Arg23Cys	coding	Benign
11	34916725	C	G	C34916725G	PDHX	NM_003477.3(PDHX):c.70C>G:p.Arg24Gly	coding	Benign
11	34916763	T	C	T34916763C	PDHX	NM_003477.3(PDHX):c.108T>C:p.Ser36=	coding	Benign
11	34916830	C	G	C34916830G	PDHX	NM_003477.3(PDHX):c.160+15C>G	noncoding	Benign
11	34916909	A	G	A34916909G	PDHX	NM_003477.3(PDHX):c.160+94A>G	noncoding	Benign
11	34917004	A	G	A34917004G	PDHX	NM_003477.3(PDHX):c.160+189A>G	noncoding	Benign
11	34931454	G	T	G34931454T	PDHX	NM_003477.3(PDHX):c.211G>T:p.Gly71Ter	coding	Pathogenic
11	34931487	G	A	G34931487A	PDHX	NM_003477.3(PDHX):c.241+3G>A	noncoding	Benign
11	34931508	C	A	C34931508A	PDHX	NM_003477.3(PDHX):c.241+24C>A	noncoding	Benign
11	34947565	A	G	A34947565G	PDHX	NM_003477.3(PDHX):c.301A>G:p.Thr101Ala	coding	Benign
11	34947603	C	T	C34947603T	PDHX	NM_003477.3(PDHX):c.339C>T:p.Ile113=	coding	Benign
11	34957479	C	T	C34957479T	PDHX	NM_003477.3(PDHX):c.438C>T:p.Asp146=	coding	Benign
11	34957515	G	A	G34957515A	PDHX	NM_003477.3(PDHX):c.474G>A:p.Glu158=	coding	Benign/Likely_benign
11	34957548	C	T	C34957548T	PDHX	NM_003477.3(PDHX):c.507C>T:p.Ile169=	coding	Benign
11	34957572	C	T	C34957572T	PDHX	NM_003477.3(PDHX):c.531C>T:p.Pro177=	coding	Benign
11	34957775	C	T	C34957775T	PDHX	NM_003477.3(PDHX):c.542+192C>T	noncoding	Benign
11	34960443	G	A	G34960443A	PDHX	NM_003477.3(PDHX):c.566G>A:p.Arg189His	coding	Benign
11	34960495	C	G	C34960495G	PDHX	NM_003477.3(PDHX):c.618C>G:p.Gly206=	coding	Benign/Likely_benign
11	34960519	G	A	G34960519A	PDHX	NM_003477.3(PDHX):c.641+1G>A	coding	Pathogenic
11	34960522	T	C	T34960522C	PDHX	NM_003477.3(PDHX):c.641+4T>C	noncoding	Benign
11	34960686	A	G	A34960686G	PDHX	NM_003477.3(PDHX):c.641+168A>G	noncoding	Benign
11	34966740	C	T	C34966740T	PDHX	NM_003477.3(PDHX):c.742C>T:p.Gln248Ter	coding	Pathogenic
11	34966796	T	C	T34966796C	PDHX	NM_003477.3(PDHX):c.798T>C:p.Pro266=	coding	Benign
11	34970172	C	T	C34970172T	PDHX	NM_003477.3(PDHX):c.850C>T:p.Arg284Ter	coding	Pathogenic
11	34970180	T	C	T34970180C	PDHX	NM_003477.3(PDHX):c.858T>C:p.Val286=	coding	Benign
11	34970279	G	A	G34970279A	PDHX	NM_003477.3(PDHX):c.957G>A:p.Leu319=	coding	Benign
11	34977937	G	T	G34977937T	PDHX	NM_003477.3(PDHX):c.965-187G>T	noncoding	Benign
11	34978200	A	G	A34978200G	PDHX	NM_003477.3(PDHX):c.1023+18A>G	noncoding	Benign
11	34984355	A	T	A34984355T	PDHX	NM_003477.3(PDHX):c.1024-215A>T	noncoding	Benign
11	34984517	C	T	C34984517T	PDHX	NM_003477.3(PDHX):c.1024-53C>T	noncoding	Benign
11	34984569	G	A	G34984569A	PDHX	NM_003477.3(PDHX):c.1024-1G>A	noncoding	Pathogenic
11	34984918	A	T	A34984918T	PDHX	NM_003477.3(PDHX):c.1182+190A>T	noncoding	Benign
11	34984973	A	G	A34984973G	PDHX	NM_003477.3(PDHX):c.1182+245A>G	noncoding	Benign
11	34992320	A	G	A34992320G	PDHX	NM_003477.3(PDHX):c.1188A>G:p.Leu396=	coding	Benign
11	34994997	G	A	G34994997A	PDHX	NM_003477.3(PDHX):c.1331G>A:p.Arg444Lys	coding	Benign
11	34994999	T	G	T34994999G	PDHX	NM_003477.3(PDHX):c.1333T>G:p.Phe445Val	coding	Benign/Likely_benign
11	34995002	C	T	C34995002T	PDHX	NM_003477.3(PDHX):c.1336C>T:p.Arg446Ter	coding	Pathogenic
11	34995169	C	T	C34995169T	PDHX	NM_003477.3(PDHX):c.1503C>T:p.Ala501=	coding	Benign
11	34995199	A	C	A34995199C	PDHX	NM_003477.3(PDHX):c.*27A>C	noncoding	Benign
11	34995295	A	G	A34995295G	PDHX	NM_003477.3(PDHX):c.*123A>G	noncoding	Benign
11	34995345	G	A	G34995345A	PDHX	NM_003477.3(PDHX):c.*173G>A	noncoding	Benign
11	34995372	T	C	T34995372C	PDHX	NM_003477.3(PDHX):c.*200T>C	noncoding	Benign
11	34995658	G	T	G34995658T	PDHX	NM_003477.3(PDHX):c.*486G>T	noncoding	Benign
11	34995816	C	A	C34995816A	PDHX	NM_003477.3(PDHX):c.*644C>A	noncoding	Benign
11	34996062	T	C	T34996062C	PDHX	NM_003477.3(PDHX):c.*890T>C	noncoding	Benign
11	35176644	G	A	G35176644A	CD44	NM_000610.4(CD44):c.137G>A:p.Arg46Gln	coding	Benign
11	35180414	T	C	T35180414C	CD44	NM_000610.4(CD44):c.367+7T>C	noncoding	Benign
11	35189887	G	A	G35189887A	CD44	NM_000610.4(CD44):c.489G>A:p.Thr163=	coding	Benign
11	35196813	T	C	T35196813C	CD44	NM_000610.4(CD44):c.735T>C:p.Phe245=	coding	Benign
11	35204536	C	T	C35204536T	CD44	NM_000610.4(CD44):c.1178C>T:p.Thr393Met	coding	Benign
11	35204603	A	C	A35204603C	CD44	NM_000610.4(CD44):c.1245A>C:p.Thr415=	coding	Benign
11	35206198	A	G	A35206198G	CD44	NM_000610.4(CD44):c.1369A>G:p.Ile457Val	coding	Benign
11	35206215	A	G	A35206215G	CD44	NM_000610.4(CD44):c.1386A>G:p.Gly462=	coding	Benign
11	35206217	G	A	G35206217A	CD44	NM_000610.4(CD44):c.1388G>A:p.Arg463Gln	coding	Benign
11	35211322	C	T	C35211322T	CD44	NM_000610.4(CD44):c.1683C>T:p.Thr561=	coding	Benign
11	35260921	C	T	C35260921T	SLC1A2	NM_004171.4(SLC1A2):c.1698G>A:p.Glu566=	coding	Benign
11	35265704	T	A	T35265704A	SLC1A2	NM_004171.4(SLC1A2):c.1476A>T:p.Ile492=	coding	Benign
11	35280920	G	A	G35280920A	SLC1A2	NM_004171.4(SLC1A2):c.1368C>T:p.Ala456=	coding	Benign
11	35280979	C	T	C35280979T	SLC1A2	NM_004171.4(SLC1A2):c.1309G>A:p.Val437Ile	coding	Benign
11	35280986	C	T	C35280986T	SLC1A2	NM_004171.4(SLC1A2):c.1302G>A:p.Leu434=	coding	Benign
11	35286825	C	T	C35286825T	SLC1A2	NM_004171.4(SLC1A2):c.1218G>A:p.Ala406=	coding	Benign
11	35286864	T	C	T35286864C	SLC1A2	NM_004171.4(SLC1A2):c.1179A>G:p.Gly393=	coding	Benign
11	35306093	C	T	C35306093T	SLC1A2	NM_004171.4(SLC1A2):c.711G>A:p.Lys237=	coding	Benign
11	35306102	C	T	C35306102T	SLC1A2	NM_004171.4(SLC1A2):c.702G>A:p.Leu234=	coding	Benign
11	35306224	T	C	T35306224C	SLC1A2	NM_004171.4(SLC1A2):c.580A>G:p.Lys194Glu	coding	Benign
11	35312381	G	A	G35312381A	SLC1A2	NM_004171.4(SLC1A2):c.378C>T:p.Ser126=	coding	Benign
11	35315079	A	G	A35315079G	SLC1A2	NM_004171.4(SLC1A2):c.254T>C:p.Leu85Pro	coding	Pathogenic
11	35315089	C	G	C35315089G	SLC1A2	NM_004171.4(SLC1A2):c.244G>C:p.Gly82Arg	coding	Pathogenic
11	35315089	C	T	C35315089T	SLC1A2	NM_004171.4(SLC1A2):c.244G>A:p.Gly82Arg	coding	Pathogenic
11	35663663	T	C	T35663663C	TRIM44	NM_017583.6(TRIM44):c.552T>C:p.Leu184=	coding	Benign
11	35663690	T	C	T35663690C	TRIM44	NM_017583.6(TRIM44):c.579T>C:p.Asp193=	coding	Benign
11	35726117	A	G	A35726117G	TRIM44	NM_017583.6(TRIM44):c.941A>G:p.Lys314Arg	coding	Benign
11	36036192	G	A	G36036192A	LDLRAD3	NM_174902.4(LDLRAD3):c.136G>A:p.Ala46Thr	coding	Benign
11	36229224	G	T	G36229224T	LDLRAD3	NM_174902.4(LDLRAD3):c.865G>T:p.Asp289Tyr	coding	Benign
11	36229383	A	T	A36229383T	LDLRAD3	NM_174902.4(LDLRAD3):c.1024A>T:p.Thr342Ser	coding	Benign
11	36278557	G	A	G36278557A	COMMD9	NM_014186.4(COMMD9):c.237C>T:p.Ala79=	coding	Benign
11	36401129	G	A	G36401129A	PRR5L	NM_001160167.2(PRR5L):c.8G>A:p.Arg3His	coding	Benign
11	36403367	C	T	C36403367T	PRR5L	NM_001160167.2(PRR5L):c.234C>T:p.Asn78=	coding	Benign
11	36462520	G	A	G36462520A	PRR5L	NM_001160167.2(PRR5L):c.891G>A:p.Ser297=	coding	Benign
11	36462565	G	T	G36462565T	PRR5L	NM_001160167.2(PRR5L):c.936G>T:p.Leu312=	coding	Benign
11	36568072	A	G	A36568072G	RAG1	NM_000448.2(RAG1):c.-65A>G	noncoding	Benign
11	36573493	A	G	A36573493G	RAG1	NM_000448.2(RAG1):c.189A>G:p.Pro63=	coding	Benign/Likely_benign
11	36573555	A	G	A36573555G	RAG1	NM_000448.2(RAG1):c.251A>G:p.His84Arg	coding	Benign
11	36573607	G	A	G36573607A	RAG1	NM_000448.2(RAG1):c.303G>A:p.Ala101=	coding	Benign
11	36573626	C	T	C36573626T	RAG1	NM_000448.2(RAG1):c.322C>T:p.Arg108Ter	coding	Pathogenic/Likely_pathogenic
11	36573728	C	T	C36573728T	RAG1	NM_000448.2(RAG1):c.424C>T:p.Arg142Ter	coding	Pathogenic
11	36573771	C	T	C36573771T	RAG1	NM_000448.2(RAG1):c.467C>T:p.Ala156Val	coding	Benign
11	36573881	G	A	G36573881A	RAG1	NM_000448.2(RAG1):c.577G>A:p.Glu193Lys	coding	Benign
11	36574029	A	G	A36574029G	RAG1	NM_000448.2(RAG1):c.725A>G:p.Gln242Arg	coding	Benign
11	36574050	A	G	A36574050G	RAG1	NM_000448.3(RAG1):c.746A>G:p.His249Arg	coding	Benign
11	36574210	C	A	C36574210A	RAG1	NM_000448.2(RAG1):c.906C>A:p.Asp302Glu	coding	Benign
11	36574244	C	T	C36574244T	RAG1	NM_000448.2(RAG1):c.940C>T:p.Arg314Trp	coding	Pathogenic
11	36574287	G	A	G36574287A	RAG1	NM_000448.2(RAG1):c.983G>A:p.Cys328Tyr	coding	Pathogenic
11	36574298	C	T	C36574298T	RAG1	NM_000448.2(RAG1):c.994C>T:p.Arg332Ter	coding	Pathogenic
11	36574303	T	A	T36574303A	RAG1	NM_000448.2(RAG1):c.999T>A:p.Tyr333Ter	coding	Pathogenic
11	36574484	C	T	C36574484T	RAG1	NM_000448.2(RAG1):c.1180C>T:p.Arg394Trp	coding	Pathogenic
11	36574485	G	A	G36574485A	RAG1	NM_000448.3(RAG1):c.1181G>A:p.Arg394Gln	coding	Pathogenic
11	36574490	C	T	C36574490T	RAG1	NM_000448.2(RAG1):c.1186C>T:p.Arg396Cys	coding	Pathogenic
11	36574491	G	A	G36574491A	RAG1	NM_000448.2(RAG1):c.1187G>A:p.Arg396His	coding	Pathogenic
11	36574514	C	T	C36574514T	RAG1	NM_000448.2(RAG1):c.1210C>T:p.Arg404Trp	coding	Pathogenic/Likely_pathogenic
11	36574532	C	T	C36574532T	RAG1	NM_000448.3(RAG1):c.1228C>T:p.Arg410Trp	coding	Pathogenic
11	36574590	A	G	A36574590G	RAG1	NM_000448.2(RAG1):c.1286A>G:p.Asp429Gly	coding	Pathogenic
11	36574607	A	G	A36574607G	RAG1	NM_000448.2(RAG1):c.1303A>G:p.Met435Val	coding	Pathogenic/Likely_pathogenic
11	36574635	C	T	C36574635T	RAG1	NM_000448.2(RAG1):c.1331C>T:p.Ala444Val	coding	Pathogenic
11	36574724	C	T	C36574724T	RAG1	NM_000448.2(RAG1):c.1420C>T:p.Arg474Cys	coding	Pathogenic
11	36574725	G	A	G36574725A	RAG1	NM_000448.2(RAG1):c.1421G>A:p.Arg474His	coding	Pathogenic
11	36574870	G	T	G36574870T	RAG1	NM_000448.2(RAG1):c.1566G>T:p.Trp522Cys	coding	Pathogenic
11	36574877	C	T	C36574877T	RAG1	NM_000448.2(RAG1):c.1573C>T:p.Pro525Ser	coding	Benign
11	36574882	G	A	G36574882A	RAG1	NM_000448.2(RAG1):c.1578G>A:p.Leu526=	coding	Benign
11	36574985	C	T	C36574985T	RAG1	NM_000448.2(RAG1):c.1681C>T:p.Arg561Cys	coding	Pathogenic
11	36574986	G	A	G36574986A	RAG1	NM_000448.2(RAG1):c.1682G>A:p.Arg561His	coding	Pathogenic
11	36575071	C	G	C36575071G	RAG1	NM_000448.3(RAG1):c.1767C>G:p.Tyr589Ter	coding	Pathogenic
11	36575399	C	T	C36575399T	RAG1	NM_000448.2(RAG1):c.2095C>T:p.Arg699Trp	coding	Pathogenic
11	36575450	C	T	C36575450T	RAG1	NM_000448.3(RAG1):c.2146C>T:p.Arg716Trp	coding	Pathogenic
11	36575468	G	A	G36575468A	RAG1	NM_000448.2(RAG1):c.2164G>A:p.Glu722Lys	coding	Pathogenic
11	36575514	G	A	G36575514A	RAG1	NM_000448.2(RAG1):c.2210G>A:p.Arg737His	coding	Pathogenic/Likely_pathogenic
11	36575624	G	T	G36575624T	RAG1	NM_000448.2(RAG1):c.2320G>T:p.Glu774Ter	coding	Pathogenic
11	36575636	C	T	C36575636T	RAG1	NM_000448.3(RAG1):c.2332C>T:p.Arg778Trp	coding	Pathogenic
11	36575637	G	A	G36575637A	RAG1	NM_000448.2(RAG1):c.2333G>A:p.Arg778Gln	coding	Pathogenic
11	36575652	C	G	C36575652G	RAG1	NM_000448.2(RAG1):c.2348C>G:p.Ser783Ter	coding	Pathogenic/Likely_pathogenic
11	36575755	A	G	A36575755G	RAG1	NM_000448.2(RAG1):c.2451A>G:p.Glu817=	coding	Benign
11	36575763	A	G	A36575763G	RAG1	NM_000448.3(RAG1):c.2459A>G:p.Lys820Arg	coding	Benign
11	36575942	G	A	G36575942A	RAG1	NM_000448.2(RAG1):c.2638G>A:p.Glu880Lys	coding	Benign
11	36575963	G	A	G36575963A	RAG1	NM_000448.2(RAG1):c.2659G>A:p.Asp887Asn	coding	Benign/Likely_benign
11	36575993	C	T	C36575993T	RAG1	NM_000448.2(RAG1):c.2689C>T:p.Arg897Ter	coding	Pathogenic
11	36576039	A	G	A36576039G	RAG1	NM_000448.2(RAG1):c.2735A>G:p.Tyr912Cys	coding	Pathogenic
11	36576055	G	A	G36576055A	RAG1	NM_000448.2(RAG1):c.2751G>A:p.Gln917=	coding	Benign/Likely_benign
11	36576118	T	G	T36576118G	RAG1	NM_000448.2(RAG1):c.2814T>G:p.Tyr938Ter	coding	Pathogenic
11	36576181	G	A	G36576181A	RAG1	NM_000448.3(RAG1):c.2877G>A:p.Trp959Ter	coding	Pathogenic
11	36576184	A	G	A36576184G	RAG1	NM_000448.2(RAG1):c.2880A>G:p.Ala960=	coding	Benign
11	36576228	G	A	G36576228A	RAG1	NM_000448.2(RAG1):c.2924G>A:p.Arg975Gln	coding	Pathogenic
11	36576246	A	C	A36576246C	RAG1	NM_000448.2(RAG1):c.2942A>C:p.Gln981Pro	coding	Pathogenic
11	36576259	T	C	T36576259C	RAG1	NM_000448.2(RAG1):c.2955T>C:p.Tyr985=	coding	Benign/Likely_benign
11	36576278	A	G	A36576278G	RAG1	NM_000448.2(RAG1):c.2974A>G:p.Lys992Glu	coding	Pathogenic
11	36576834	G	A	G36576834A	RAG1	NM_000448.2(RAG1):c.*398G>A	noncoding	Benign
11	36577025	G	A	G36577025A	RAG1	NM_000448.2(RAG1):c.*589G>A	noncoding	Benign
11	36577519	C	T	C36577519T	RAG1	NM_000448.2(RAG1):c.*1083C>T	noncoding	Benign
11	36577614	G	A	G36577614A	RAG1	NM_000448.3(RAG1):c.*1178G>A	noncoding	Benign
11	36577802	A	G	A36577802G	RAG1	NM_000448.2(RAG1):c.*1366A>G	noncoding	Benign
11	36578414	C	T	C36578414T	RAG1	NM_000448.3(RAG1):c.*1978C>T	noncoding	Benign
11	36578682	T	C	T36578682C	RAG1	NM_000448.2(RAG1):c.*2246T>C	noncoding	Benign
11	36578966	G	T	G36578966T	RAG1	NM_000448.2(RAG1):c.*2530G>T	noncoding	Benign
11	36579035	A	C	A36579035C	RAG1	NM_000448.2(RAG1):c.*2599A>C	noncoding	Benign
11	36579090	A	G	A36579090G	RAG1	NM_000448.3(RAG1):c.*2654A>G	noncoding	Benign
11	36579620	G	A	G36579620A	RAG1	NM_000448.2(RAG1):c.*3184G>A	noncoding	Benign
11	36592257	T	C	T36592257C	RAG2	NM_000536.4(RAG2):c.*328A>G	noncoding	Benign
11	36592402	G	T	G36592402T	RAG2	NM_000536.4(RAG2):c.*183C>A	noncoding	Benign
11	36592441	C	A	C36592441A	RAG2	NM_000536.4(RAG2):c.*144G>T	noncoding	Benign
11	36593011	G	T	G36593011T	RAG2	NM_000536.4(RAG2):c.1158C>A:p.Phe386Leu	coding	Benign/Likely_benign
11	36593074	A	G	A36593074G	RAG2	NM_000536.4(RAG2):c.1095T>C:p.Ser365=	coding	Benign/Likely_benign
11	36593214	C	A	C36593214A	RAG2	NM_000536.4(RAG2):c.955G>T:p.Gly319Ter	coding	Pathogenic
11	36593221	T	C	T36593221C	RAG2	NM_000536.4(RAG2):c.948A>G:p.Ile316Met	coding	Benign
11	36593291	T	C	T36593291C	RAG2	NM_000536.4(RAG2):c.878A>G:p.Glu293Gly	coding	Benign
11	36593428	C	T	C36593428T	RAG2	NM_000536.4(RAG2):c.741G>A:p.Val247=	coding	Benign
11	36593540	A	G	A36593540G	RAG2	NM_000536.4(RAG2):c.629T>C:p.Ile210Thr	coding	Pathogenic
11	36593574	C	A	C36593574A	RAG2	NM_000536.4(RAG2):c.595G>T:p.Glu199Ter	coding	Pathogenic
11	36593630	G	T	G36593630T	RAG2	NM_000536.4(RAG2):c.539C>A:p.Pro180His	coding	Pathogenic/Likely_pathogenic
11	36593886	C	T	C36593886T	RAG2	NM_000536.4(RAG2):c.283G>A:p.Gly95Arg	coding	Pathogenic/Likely_pathogenic
11	36593976	C	A	C36593976A	RAG2	NM_000536.4(RAG2):c.193G>T:p.Asp65Tyr	coding	Pathogenic/Likely_pathogenic
11	36594065	C	A	C36594065A	RAG2	NM_000536.4(RAG2):c.104G>T:p.Gly35Val	coding	Pathogenic/Likely_pathogenic
11	36594147	C	T	C36594147T	RAG2	NM_000536.4(RAG2):c.22G>A:p.Val8Ile	coding	Benign/Likely_benign
11	36594167	A	G	A36594167G	RAG2	NM_000536.4(RAG2):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
11	36598211	A	G	A36598211G	RAG2	NM_000536.4(RAG2):c.-137T>C	noncoding	Benign
11	44077328	G	A	G44077328A	ACCS	NM_032592.4(ACCS):c.606G>A:p.Val202=	coding	Benign
11	44077852	G	A	G44077852A	ACCS	NM_032592.4(ACCS):c.662G>A:p.Gly221Glu	coding	Benign
11	44081244	C	T	C44081244T	ACCS	NM_032592.4(ACCS):c.1035C>T:p.Ala345=	coding	Benign
11	44083751	C	T	C44083751T	ACCS	NM_032592.4(ACCS):c.1465C>T:p.Arg489Cys	coding	Benign
11	44095552	T	C	T44095552C	EXT2	NM_207122.1(EXT2):c.-331T>C	noncoding	Benign
11	44095572	G	A	G44095572A	EXT2	NM_207122.1(EXT2):c.-311G>A	noncoding	Benign
11	44095686	C	G	C44095686G	EXT2	NM_207122.1(EXT2):c.-197C>G	noncoding	Benign
11	44095735	G	A	G44095735A	EXT2	NM_207122.1(EXT2):c.-148G>A	noncoding	Benign
11	44095822	C	G	C44095822G	EXT2	NM_207122.1(EXT2):c.-61C>G	noncoding	Benign
11	44095859	G	T	G44095859T	EXT2	NM_207122.1(EXT2):c.-31+7G>T	noncoding	Benign
11	44107740	C	A	C44107740A	EXT2	NM_000401.3(EXT2):c.127C>A:p.Arg43=	coding	Benign
11	44107779	C	T	C44107779T	EXT2	NM_000401.3(EXT2):c.166C>T:p.Arg56Ter	coding	Pathogenic
11	44107836	A	G	A44107836G	EXT2	NM_000401.3(EXT2):c.223A>G:p.Met75Val	coding	Benign/Likely_benign
11	44107855	A	T	A44107855T	EXT2	NM_207122.2(EXT2):c.143A>T:p.His48Leu	coding	Benign
11	44107913	G	A	G44107913A	EXT2	NM_207122.2(EXT2):c.201G>A:p.Pro67=	coding	Benign
11	44107976	C	T	C44107976T	EXT2	NM_000401.3(EXT2):c.363C>T:p.His121=	coding	Benign
11	44108033	T	A	T44108033A	EXT2	NM_207122.2(EXT2):c.321T>A:p.Tyr107Ter	coding	Pathogenic
11	44108070	G	A	G44108070A	EXT2	NM_207122.2(EXT2):c.358G>A:p.Val120Ile	coding	Benign
11	44108106	G	T	G44108106T	EXT2	NM_207122.2(EXT2):c.394G>T:p.Glu132Ter	coding	Pathogenic
11	44108138	C	G	C44108138G	EXT2	NM_207122.2(EXT2):c.426C>G:p.Tyr142Ter	coding	Pathogenic
11	44108141	C	A	C44108141A	EXT2	NM_000401.3(EXT2):c.528C>A:p.Tyr176Ter	coding	Pathogenic
11	44108226	C	T	C44108226T	EXT2	NM_000401.3(EXT2):c.613C>T:p.Gln205Ter	coding	Pathogenic
11	44108231	G	C	G44108231C	EXT2	NM_000401.3(EXT2):c.618G>C:p.Ala206=	coding	Benign
11	44108249	G	C	G44108249C	EXT2	NM_207122.2(EXT2):c.536+1G>C	coding	Pathogenic
11	44109196	G	A	G44109196A	EXT2	NM_000401.3(EXT2):c.638G>A:p.Trp213Ter	coding	Pathogenic
11	44109201	C	T	C44109201T	EXT2	NM_000401.3(EXT2):c.643C>T:p.Arg215Ter	coding	Pathogenic
11	44109237	G	T	G44109237T	EXT2	NM_000401.3(EXT2):c.679G>T:p.Gly227Ter	coding	Pathogenic
11	44109262	C	T	C44109262T	EXT2	NM_207122.2(EXT2):c.605C>T:p.Ala202Val	coding	Benign
11	44109284	G	A	G44109284A	EXT2	NM_000401.3(EXT2):c.725+1G>A	coding	Pathogenic
11	44109285	T	G	T44109285G	EXT2	NM_207122.2(EXT2):c.626+2T>G	noncoding	Pathogenic
11	44114183	A	G	A44114183G	EXT2	NM_000401.3(EXT2):c.726-2A>G	noncoding	Pathogenic
11	44114224	C	G	C44114224G	EXT2	NM_000401.3(EXT2):c.765C>G:p.Tyr255Ter	coding	Pathogenic
11	44114226	G	C	G44114226C	EXT2	NM_000401.3(EXT2):c.767G>C:p.Arg256Pro	coding	Pathogenic
11	44114228	C	T	C44114228T	EXT2	NM_000401.3(EXT2):c.769C>T:p.Gln257Ter	coding	Pathogenic
11	44114237	G	A	G44114237A	EXT2	NM_000401.3(EXT2):c.778G>A:p.Asp260Asn	coding	Pathogenic
11	44114257	T	G	T44114257G	EXT2	NM_207122.2(EXT2):c.699T>G:p.Tyr233Ter	coding	Pathogenic
11	44114268	C	T	C44114268T	EXT2	NM_000401.3(EXT2):c.809C>T:p.Ser270Leu	coding	Benign/Likely_benign
11	44114302	G	A	G44114302A	EXT2	NM_000401.3(EXT2):c.842+1G>A	coding	Pathogenic
11	44124779	T	G	T44124779G	EXT2	NM_000401.3(EXT2):c.843-10T>G	noncoding	Benign/Likely_benign
11	44124787	A	C	A44124787C	EXT2	NM_000401.3(EXT2):c.843-2A>C	noncoding	Pathogenic
11	44124788	G	A	G44124788A	EXT2	NM_207122.2(EXT2):c.744-1G>A	noncoding	Pathogenic
11	44124801	C	A	C44124801A	EXT2	NM_207122.2(EXT2):c.756C>A:p.Tyr252Ter	coding	Pathogenic
11	44124817	C	T	C44124817T	EXT2	NM_000401.3(EXT2):c.871C>T:p.Gln291Ter	coding	Pathogenic
11	44124862	C	T	C44124862T	EXT2	NM_207122.2(EXT2):c.817C>T:p.Gln273Ter	coding	Pathogenic
11	44124908	A	G	A44124908G	EXT2	NM_207122.2(EXT2):c.863A>G:p.Asn288Ser	coding	Pathogenic
11	44124934	C	T	C44124934T	EXT2	NM_207122.2(EXT2):c.889C>T:p.Arg297Cys	coding	Benign
11	44124941	G	A	G44124941A	EXT2	NM_000401.3(EXT2):c.995G>A:p.Arg332His	coding	Benign/Likely_benign
11	44124963	C	T	C44124963T	EXT2	NM_000401.3(EXT2):c.1017C>T:p.Phe339=	coding	Benign
11	44124973	C	T	C44124973T	EXT2	NM_000401.3(EXT2):c.1027C>T:p.Gln343Ter	coding	Pathogenic
11	44124982	C	T	C44124982T	EXT2	NM_000401.3(EXT2):c.1036C>T:p.Gln346Ter	coding	Pathogenic
11	44126814	A	G	A44126814G	EXT2	NM_207122.2(EXT2):c.940-2A>G	noncoding	Pathogenic
11	44126841	G	A	G44126841A	EXT2	NM_000401.3(EXT2):c.1064G>A:p.Arg355His	coding	Benign/Likely_benign
11	44126875	T	C	T44126875C	EXT2	NM_000401.3(EXT2):c.1098T>C:p.Asp366=	coding	Benign
11	44126881	A	G	A44126881G	EXT2	NM_207122.2(EXT2):c.1005A>G:p.Leu335=	coding	Benign
11	44126882	C	T	C44126882T	EXT2	NM_207122.2(EXT2):c.1006C>T:p.Gln336Ter	coding	Pathogenic
11	44126892	G	A	G44126892A	EXT2	NM_207122.2(EXT2):c.1016G>A:p.Cys339Tyr	coding	Pathogenic
11	44126893	T	C	T44126893C	EXT2	NM_000401.3(EXT2):c.1116T>C:p.Cys372=	coding	Benign/Likely_benign
11	44126928	C	T	C44126928T	EXT2	NM_207122.2(EXT2):c.1052C>T:p.Pro351Leu	coding	Pathogenic
11	44126950	G	A	G44126950A	EXT2	NM_000401.3(EXT2):c.1173G>A:p.Trp391Ter	coding	Pathogenic
11	44126956	G	A	G44126956A	EXT2	NM_000401.3(EXT2):c.1178+1G>A	coding	Pathogenic
11	44126956	G	T	G44126956T	EXT2	NM_207122.2(EXT2):c.1079+1G>T	coding	Pathogenic
11	44130027	T	A	T44130027A	EXT2	NM_000401.3(EXT2):c.1179-18T>A	noncoding	Benign
11	44130067	G	A	G44130067A	EXT2	NM_207122.2(EXT2):c.1102G>A:p.Glu368Lys	coding	Benign
11	44130075	G	T	G44130075T	EXT2	NM_000401.3(EXT2):c.1209G>T:p.Met403Ile	coding	Benign
11	44130091	A	G	A44130091G	EXT2	NM_207122.2(EXT2):c.1126A>G:p.Ile376Val	coding	Benign
11	44130097	C	T	C44130097T	EXT2	NM_000401.3(EXT2):c.1231C>T:p.Gln411Ter	coding	Pathogenic
11	44130109	C	T	C44130109T	EXT2	NM_207122.2(EXT2):c.1144C>T:p.Gln382Ter	coding	Pathogenic
11	44130115	C	T	C44130115T	EXT2	NM_207122.2(EXT2):c.1150C>T:p.Gln384Ter	coding	Pathogenic
11	44130136	C	T	C44130136T	EXT2	NM_207122.2(EXT2):c.1171C>T:p.Gln391Ter	coding	Pathogenic
11	44130140	T	A	T44130140A	EXT2	NM_000401.3(EXT2):c.1272+2T>A	noncoding	Pathogenic
11	44171593	G	T	G44171593T	EXT2	NM_000401.3(EXT2):c.1273-18G>T	noncoding	Benign
11	44171618	G	A	G44171618A	EXT2	NM_207122.2(EXT2):c.1181G>A:p.Trp394Ter	coding	Pathogenic
11	44171619	G	A	G44171619A	EXT2	NM_000401.3(EXT2):c.1281G>A:p.Trp427Ter	coding	Pathogenic
11	44171624	G	A	G44171624A	EXT2	NM_000401.3(EXT2):c.1286G>A:p.Trp429Ter	coding	Pathogenic
11	44171642	C	A	C44171642A	EXT2	NM_207122.2(EXT2):c.1205C>A:p.Ser402Ter	coding	Pathogenic
11	44171686	C	T	C44171686T	EXT2	NM_207122.2(EXT2):c.1249C>T:p.Arg417Trp	coding	Benign
11	44171687	G	A	G44171687A	EXT2	NM_207122.2(EXT2):c.1250G>A:p.Arg417Gln	coding	Benign
11	44171694	T	A	T44171694A	EXT2	NM_207122.2(EXT2):c.1257T>A:p.Tyr419Ter	coding	Pathogenic
11	44171743	G	A	G44171743A	EXT2	NM_000401.3(EXT2):c.1404+1G>A	coding	Pathogenic
11	44206938	C	T	C44206938T	EXT2	NM_000401.3(EXT2):c.1740C>T:p.Asp580=	coding	Benign
11	44231787	A	G	A44231787G	EXT2	NM_000401.3(EXT2):c.1762-566A>G	noncoding	Benign
11	44231853	G	C	G44231853C	EXT2	NM_000401.3(EXT2):c.1762-500G>C	noncoding	Benign
11	44232430	G	A	G44232430A	EXT2	NM_000401.3(EXT2):c.1839G>A:p.Trp613Ter	coding	Pathogenic
11	44232451	G	A	G44232451A	EXT2	NM_000401.3(EXT2):c.1860G>A:p.Thr620=	coding	Benign/Likely_benign
11	44234131	A	G	A44234131G	EXT2	NM_000401.3(EXT2):c.1922A>G:p.Tyr641Cys	coding	Pathogenic
11	44236252	T	C	T44236252C	EXT2	NM_000401.3(EXT2):c.2035-41T>C	noncoding	Benign
11	44244135	T	C	T44244135C	EXT2	NM_207122.2(EXT2):c.2019-14T>C	noncoding	Benign
11	44244290	C	T	C44244290T	EXT2	NM_000401.3(EXT2):c.*3C>T	noncoding	Benign
11	44244343	G	A	G44244343A	EXT2	NM_000401.3(EXT2):c.*56G>A	noncoding	Benign/Likely_benign
11	44244759	C	T	C44244759T	EXT2	NM_000401.3(EXT2):c.*472C>T	noncoding	Benign
11	44244933	C	T	C44244933T	EXT2	NM_000401.3(EXT2):c.*646C>T	noncoding	Benign
11	44245082	C	A	C44245082A	EXT2	NM_000401.3(EXT2):c.*795C>A	noncoding	Benign
11	44245089	A	G	A44245089G	EXT2	NM_000401.3(EXT2):c.*802A>G	noncoding	Benign
11	44260749	G	A	G44260749A	ALX4	NM_021926.4(ALX4):c.*4105C>T	noncoding	Benign
11	44260855	G	A	G44260855A	ALX4	NM_021926.4(ALX4):c.*3999C>T	noncoding	Benign
11	44261081	T	C	T44261081C	ALX4	NM_021926.4(ALX4):c.*3773A>G	noncoding	Benign
11	44261085	A	G	A44261085G	ALX4	NM_021926.4(ALX4):c.*3769T>C	noncoding	Benign
11	44261258	G	C	G44261258C	ALX4	NM_021926.4(ALX4):c.*3596C>G	noncoding	Benign
11	44261449	C	T	C44261449T	ALX4	NM_021926.4(ALX4):c.*3405G>A	noncoding	Benign
11	44261688	G	A	G44261688A	ALX4	NM_021926.4(ALX4):c.*3166C>T	noncoding	Benign
11	44261731	C	T	C44261731T	ALX4	NM_021926.4(ALX4):c.*3123G>A	noncoding	Benign
11	44261747	T	C	T44261747C	ALX4	NM_021926.4(ALX4):c.*3107A>G	noncoding	Benign
11	44261773	G	A	G44261773A	ALX4	NM_021926.4(ALX4):c.*3081C>T	noncoding	Benign
11	44261842	G	C	G44261842C	ALX4	NM_021926.4(ALX4):c.*3012C>G	noncoding	Benign
11	44262009	C	T	C44262009T	ALX4	NM_021926.4(ALX4):c.*2845G>A	noncoding	Benign
11	44262022	T	G	T44262022G	ALX4	NM_021926.4(ALX4):c.*2832A>C	noncoding	Benign
11	44262026	G	A	G44262026A	ALX4	NM_021926.4(ALX4):c.*2828C>T	noncoding	Benign
11	44262104	C	T	C44262104T	ALX4	NM_021926.4(ALX4):c.*2750G>A	noncoding	Benign
11	44262172	G	A	G44262172A	ALX4	NM_021926.4(ALX4):c.*2682C>T	noncoding	Benign
11	44262181	A	T	A44262181T	ALX4	NM_021926.4(ALX4):c.*2673T>A	noncoding	Benign
11	44262347	C	T	C44262347T	ALX4	NM_021926.4(ALX4):c.*2507G>A	noncoding	Benign
11	44262375	A	G	A44262375G	ALX4	NM_021926.4(ALX4):c.*2479T>C	noncoding	Benign
11	44262610	C	T	C44262610T	ALX4	NM_021926.4(ALX4):c.*2244G>A	noncoding	Benign
11	44262628	C	T	C44262628T	ALX4	NM_021926.4(ALX4):c.*2226G>A	noncoding	Benign
11	44262744	T	C	T44262744C	ALX4	NM_021926.4(ALX4):c.*2110A>G	noncoding	Benign
11	44262941	C	T	C44262941T	ALX4	NM_021926.4(ALX4):c.*1913G>A	noncoding	Benign
11	44262953	T	C	T44262953C	ALX4	NM_021926.4(ALX4):c.*1901A>G	noncoding	Benign
11	44262958	T	C	T44262958C	ALX4	NM_021926.4(ALX4):c.*1896A>G	noncoding	Benign
11	44263141	C	G	C44263141G	ALX4	NM_021926.4(ALX4):c.*1713G>C	noncoding	Benign
11	44263155	C	A	C44263155A	ALX4	NM_021926.4(ALX4):c.*1699G>T	noncoding	Benign
11	44263225	G	A	G44263225A	ALX4	NM_021926.4(ALX4):c.*1629C>T	noncoding	Benign
11	44263322	C	T	C44263322T	ALX4	NM_021926.4(ALX4):c.*1532G>A	noncoding	Benign
11	44263407	C	T	C44263407T	ALX4	NM_021926.4(ALX4):c.*1447G>A	noncoding	Benign
11	44263489	G	T	G44263489T	ALX4	NM_021926.4(ALX4):c.*1365C>A	noncoding	Benign
11	44263509	C	T	C44263509T	ALX4	NM_021926.4(ALX4):c.*1345G>A	noncoding	Benign
11	44263627	C	T	C44263627T	ALX4	NM_021926.4(ALX4):c.*1227G>A	noncoding	Benign
11	44263723	A	G	A44263723G	ALX4	NM_021926.4(ALX4):c.*1131T>C	noncoding	Benign
11	44263733	G	A	G44263733A	ALX4	NM_021926.4(ALX4):c.*1121C>T	noncoding	Benign
11	44263766	C	T	C44263766T	ALX4	NM_021926.4(ALX4):c.*1088G>A	noncoding	Benign
11	44263806	G	A	G44263806A	ALX4	NM_021926.4(ALX4):c.*1048C>T	noncoding	Benign
11	44263857	G	C	G44263857C	ALX4	NM_021926.4(ALX4):c.*997C>G	noncoding	Benign
11	44263881	C	T	C44263881T	ALX4	NM_021926.4(ALX4):c.*973G>A	noncoding	Benign
11	44263882	G	A	G44263882A	ALX4	NM_021926.4(ALX4):c.*972C>T	noncoding	Benign
11	44263891	C	T	C44263891T	ALX4	NM_021926.4(ALX4):c.*963G>A	noncoding	Benign
11	44263910	C	A	C44263910A	ALX4	NM_021926.4(ALX4):c.*944G>T	noncoding	Benign
11	44263931	G	A	G44263931A	ALX4	NM_021926.4(ALX4):c.*923C>T	noncoding	Benign
11	44263932	A	C	A44263932C	ALX4	NM_021926.4(ALX4):c.*922T>G	noncoding	Benign
11	44263952	C	T	C44263952T	ALX4	NM_021926.4(ALX4):c.*902G>A	noncoding	Benign
11	44264072	T	C	T44264072C	ALX4	NM_021926.4(ALX4):c.*782A>G	noncoding	Benign
11	44264307	T	C	T44264307C	ALX4	NM_021926.4(ALX4):c.*547A>G	noncoding	Benign
11	44264330	G	A	G44264330A	ALX4	NM_021926.4(ALX4):c.*524C>T	noncoding	Benign
11	44264337	G	A	G44264337A	ALX4	NM_021926.4(ALX4):c.*517C>T	noncoding	Benign
11	44264417	G	A	G44264417A	ALX4	NM_021926.4(ALX4):c.*437C>T	noncoding	Benign
11	44264588	A	C	A44264588C	ALX4	NM_021926.4(ALX4):c.*266T>G	noncoding	Benign
11	44264592	C	T	C44264592T	ALX4	NM_021926.4(ALX4):c.*262G>A	noncoding	Benign
11	44264626	G	A	G44264626A	ALX4	NM_021926.4(ALX4):c.*228C>T	noncoding	Benign
11	44264698	C	T	C44264698T	ALX4	NM_021926.4(ALX4):c.*156G>A	noncoding	Benign
11	44264808	C	T	C44264808T	ALX4	NM_021926.4(ALX4):c.*46G>A	noncoding	Benign
11	44264984	C	T	C44264984T	ALX4	NM_021926.4(ALX4):c.1106G>A:p.Gly369Glu	coding	Benign/Likely_benign
11	44265005	G	A	G44265005A	ALX4	NM_021926.4(ALX4):c.1085C>T:p.Thr362Met	coding	Benign
11	44265016	G	A	G44265016A	ALX4	NM_021926.4(ALX4):c.1074C>T:p.His358=	coding	Benign
11	44265172	C	T	C44265172T	ALX4	NM_021926.4(ALX4):c.918G>A:p.Pro306=	coding	Benign
11	44267521	G	A	G44267521A	ALX4	NM_021926.4(ALX4):c.879C>T:p.Leu293=	coding	Benign
11	44267585	C	G	C44267585G	ALX4	NM_021926.4(ALX4):c.815G>C:p.Arg272Pro	coding	Pathogenic
11	44267607	G	A	G44267607A	ALX4	NM_021926.4(ALX4):c.793C>T:p.Arg265Ter	coding	Pathogenic
11	44267633	C	T	C44267633T	ALX4	NM_021926.4(ALX4):c.778-11G>A	noncoding	Benign
11	44275389	G	A	G44275389A	ALX4	NM_021926.4(ALX4):c.736C>T:p.Gln246Ter	coding	Pathogenic
11	44275396	C	T	C44275396T	ALX4	NM_021926.4(ALX4):c.729G>A:p.Ala243=	coding	Benign
11	44275452	G	C	G44275452C	ALX4	NM_021926.4(ALX4):c.673C>G:p.Gln225Glu	coding	Pathogenic
11	44275472	C	T	C44275472T	ALX4	NM_021926.4(ALX4):c.653G>A:p.Arg218Gln	coding	Pathogenic
11	44275479	G	C	G44275479C	ALX4	NM_021926.4(ALX4):c.646C>G:p.Arg216Gly	coding	Pathogenic
11	44275504	T	C	T44275504C	ALX4	NM_021926.4(ALX4):c.621A>G:p.Ser207=	coding	Benign
11	44275505	G	T	G44275505T	ALX4	NM_021926.4(ALX4):c.620C>A:p.Ser207Ter	coding	Pathogenic
11	44275531	G	T	G44275531T	ALX4	NM_021926.4(ALX4):c.594C>A:p.Leu198=	coding	Benign
11	44275651	C	G	C44275651G	ALX4	NM_021926.4(ALX4):c.474G>C:p.Glu158Asp	coding	Benign
11	44309645	G	A	G44309645A	ALX4	NM_021926.4(ALX4):c.418C>T:p.Gln140Ter	coding	Pathogenic
11	44309759	G	A	G44309759A	ALX4	NM_021926.4(ALX4):c.304C>T:p.Pro102Ser	coding	Benign
11	44309837	G	T	G44309837T	ALX4	NM_021926.4(ALX4):c.226C>A:p.Pro76Thr	coding	Benign
11	44309959	C	G	C44309959G	ALX4	NM_021926.4(ALX4):c.104G>C:p.Arg35Thr	coding	Benign
11	44309994	C	G	C44309994G	ALX4	NM_021926.4(ALX4):c.69G>C:p.Pro23=	coding	Benign
11	44310000	G	A	G44310000A	ALX4	NM_021926.4(ALX4):c.63C>T:p.Tyr21=	coding	Benign
11	44310098	C	G	C44310098G	ALX4	NM_021926.4(ALX4):c.-36G>C	noncoding	Benign
11	44605107	G	A	G44605107A	CD82	NM_002231.4(CD82):c.186G>A:p.Val62=	coding	Benign
11	44618696	C	T	C44618696T	CD82	NM_002231.4(CD82):c.699C>T:p.Gly233=	coding	Benign
11	44619066	G	C	G44619066C	CD82	NM_002231.4(CD82):c.744G>C:p.Leu248=	coding	Benign
11	44909757	C	T	C44909757T	TSPAN18	NM_130783.5(TSPAN18):c.116C>T:p.Thr39Ile	coding	Benign
11	44926712	C	T	C44926712T	TSPAN18	NM_130783.5(TSPAN18):c.654C>T:p.Tyr218=	coding	Benign
11	45252481	C	T	C45252481T	SYT13	NM_020826.3(SYT13):c.786G>A:p.Leu262=	coding	Benign
11	45254343	G	A	G45254343A	SYT13	NM_020826.3(SYT13):c.471C>T:p.Asn157=	coding	Benign
11	45805170	G	A	G45805170A	SLC35C1	NM_018389.4(SLC35C1):c.-632G>A	noncoding	Benign
11	45805499	G	C	G45805499C	SLC35C1	NM_018389.4(SLC35C1):c.-303G>C	noncoding	Benign
11	45805629	C	T	C45805629T	SLC35C1	NM_018389.4(SLC35C1):c.-173C>T	noncoding	Benign
11	45805799	A	G	A45805799G	SLC35C1	NM_018389.5(SLC35C1):c.-3A>G	noncoding	Benign
11	45805892	G	T	G45805892T	SLC35C1	NM_018389.4(SLC35C1):c.91G>T:p.Glu31Ter	coding	Pathogenic
11	45806240	C	T	C45806240T	SLC35C1	NM_018389.4(SLC35C1):c.439C>T:p.Arg147Cys	coding	Pathogenic
11	45810744	A	G	A45810744G	SLC35C1	NM_018389.4(SLC35C1):c.536-32A>G	noncoding	Benign
11	45810958	A	G	A45810958G	SLC35C1	NM_018389.5(SLC35C1):c.718A>G:p.Ile240Val	coding	Benign
11	45811163	C	G	C45811163G	SLC35C1	NM_018389.4(SLC35C1):c.923C>G:p.Thr308Arg	coding	Pathogenic
11	45811287	G	A	G45811287A	SLC35C1	NM_018389.4(SLC35C1):c.1047G>A:p.Pro349=	coding	Benign/Likely_benign
11	45811384	G	A	G45811384A	SLC35C1	NM_018389.4(SLC35C1):c.*49G>A	noncoding	Benign
11	45811749	G	A	G45811749A	SLC35C1	NM_018389.4(SLC35C1):c.*414G>A	noncoding	Benign
11	45812290	C	A	C45812290A	SLC35C1	NM_018389.4(SLC35C1):c.*955C>A	noncoding	Benign
11	45812493	C	T	C45812493T	SLC35C1	NM_018389.4(SLC35C1):c.*1158C>T	noncoding	Benign
11	45812647	T	C	T45812647C	SLC35C1	NM_018389.4(SLC35C1):c.*1312T>C	noncoding	Benign
11	45812650	C	T	C45812650T	SLC35C1	NM_018389.4(SLC35C1):c.*1315C>T	noncoding	Benign
11	45812739	G	A	G45812739A	SLC35C1	NM_018389.4(SLC35C1):c.*1404G>A	noncoding	Benign
11	45812915	C	T	C45812915T	SLC35C1	NM_018389.4(SLC35C1):c.*1580C>T	noncoding	Benign
11	45812971	G	A	G45812971A	SLC35C1	NM_018389.4(SLC35C1):c.*1636G>A	noncoding	Benign
11	45847462	C	A	C45847462A	CRY2	NM_001127457.3(CRY2):c.32+181C>A	coding	Benign
11	45867677	C	T	C45867677T	CRY2	NM_021117.5(CRY2):c.807C>T:p.Gly269=	coding	Benign
11	45902825	G	A	G45902825A	MAPK8IP1	NM_005456.4(MAPK8IP1):c.1058G>A:p.Arg353Gln	coding	Benign
11	45903111	G	A	G45903111A	MAPK8IP1	NM_005456.4(MAPK8IP1):c.1344G>A:p.Thr448=	coding	Benign
11	45909655	C	T	C45909655T	PEX16	NM_057174.2(PEX16):c.*434G>A	noncoding	Benign
11	45909816	G	A	G45909816A	PEX16	NM_004813.3(PEX16):c.*438C>T	noncoding	Benign
11	45909878	C	G	C45909878G	PEX16	NM_004813.3(PEX16):c.*376G>C	noncoding	Benign
11	45909951	G	A	G45909951A	PEX16	NM_004813.3(PEX16):c.*303C>T	noncoding	Benign
11	45910096	T	G	T45910096G	PEX16	NM_004813.3(PEX16):c.*158A>C	coding	Benign/Likely_benign
11	45910244	G	A	G45910244A	PEX16	NM_004813.3(PEX16):c.*10C>T	coding	Benign/Likely_benign
11	45910273	T	C	T45910273C	PEX16	NM_057174.2(PEX16):c.953-96A>G	coding	Pathogenic
11	45910896	A	G	A45910896G	PEX16	NM_004813.3(PEX16):c.952+2T>C	noncoding	Pathogenic
11	45910907	G	A	G45910907A	PEX16	NM_004813.3(PEX16):c.943C>T:p.Leu315=	coding	Benign
11	45913833	A	G	A45913833G	PEX16	NM_004813.3(PEX16):c.873T>C:p.Tyr291=	coding	Benign
11	45914138	C	G	C45914138G	PEX16	NM_004813.3(PEX16):c.760G>C:p.Val254Leu	coding	Benign
11	45914484	G	A	G45914484A	PEX16	NM_004813.3(PEX16):c.542-16C>T	noncoding	Benign
11	45914619	G	A	G45914619A	PEX16	NM_004813.3(PEX16):c.526C>T:p.Arg176Ter	coding	Pathogenic
11	45915716	C	T	C45915716T	PEX16	NM_004813.3(PEX16):c.346=:p.Ile116=	coding	Benign
11	45915755	C	T	C45915755T	PEX16	NM_004813.3(PEX16):c.307G>A:p.Val103Met	coding	Benign
11	45915759	G	A	G45915759A	PEX16	NM_004813.3(PEX16):c.303C>T:p.Ala101=	coding	Benign
11	45916309	G	A	G45916309A	PEX16	NM_004813.3(PEX16):c.149-6C>T	noncoding	Benign/Likely_benign
11	45948886	C	T	C45948886T	PHF21A	NM_016621.4(PHF21A):c.1288G>A:p.Ala430Thr	coding	Pathogenic
11	45949458	G	A	G45949458A	PHF21A	NM_001352027.3(PHF21A):c.1171C>T:p.Arg391Ter	coding	Pathogenic
11	45965540	A	T	A45965540T	PHF21A	NM_001101802.2(PHF21A):c.768T>A:p.Ala256=	coding	Benign
11	45979757	T	C	T45979757C	PHF21A	NM_001101802.2(PHF21A):c.360+3A>G	noncoding	Benign
11	46311189	C	T	C46311189T	CREB3L1	NM_052854.4(CREB3L1):c.753C>T:p.His251=	coding	Benign
11	46312619	C	T	C46312619T	CREB3L1	NM_052854.4(CREB3L1):c.911C>T:p.Ala304Val	coding	Pathogenic
11	46312665	A	G	A46312665G	CREB3L1	NM_052854.4(CREB3L1):c.957A>G:p.Glu319=	coding	Benign
11	46316371	G	A	G46316371A	CREB3L1	NM_052854.4(CREB3L1):c.1117G>A:p.Gly373Arg	coding	Benign
11	46317414	C	T	C46317414T	CREB3L1	NM_052854.4(CREB3L1):c.1185C>T:p.Pro395=	coding	Benign
11	46317423	C	T	C46317423T	CREB3L1	NM_052854.4(CREB3L1):c.1194C>T:p.Ser398=	coding	Benign
11	46320289	C	A	C46320289A	CREB3L1	NM_052854.4(CREB3L1):c.1284C>A:p.Tyr428Ter	coding	Pathogenic
11	46320330	T	G	T46320330G	CREB3L1	NM_052854.4(CREB3L1):c.1325T>G:p.Leu442Arg	coding	Benign
11	46320733	T	G	T46320733G	CREB3L1	NM_052854.4(CREB3L1):c.1547T>G:p.Ile516Ser	coding	Benign
11	46366285	G	A	G46366285A	DGKZ	NM_201532.3(DGKZ):c.213-1006G>A	coding	Benign
11	46366333	T	C	T46366333C	DGKZ	NM_201532.3(DGKZ):c.213-958T>C	coding	Benign
11	46366670	C	T	C46366670T	DGKZ	NM_201532.3(DGKZ):c.213-621C>T	coding	Benign
11	46367309	G	T	G46367309T	DGKZ	NM_201532.3(DGKZ):c.231G>T:p.Ser77=	coding	Benign
11	46367331	C	A	C46367331A	DGKZ	NM_201532.3(DGKZ):c.253C>A:p.Pro85Thr	coding	Benign
11	46369547	C	G	C46369547G	DGKZ	NM_201532.3(DGKZ):c.546C>G:p.Arg182=	coding	Benign
11	46371757	C	T	C46371757T	DGKZ	NM_201532.3(DGKZ):c.861C>T:p.Ser287=	coding	Benign
11	46374448	C	T	C46374448T	DGKZ	NM_201532.3(DGKZ):c.1503C>T:p.Tyr501=	coding	Benign
11	46434889	G	C	G46434889C	AMBRA1	NM_001267782.2(AMBRA1):c.2790C>G:p.Ala930=	coding	Benign
11	46542541	C	T	C46542541T	AMBRA1	NM_001267782.2(AMBRA1):c.1206G>A:p.Ser402=	coding	Benign
11	46542715	G	C	G46542715C	AMBRA1	NM_001267782.2(AMBRA1):c.1032C>G:p.Ser344=	coding	Benign
11	46645398	T	A	T46645398A	ATG13	NM_001205119.1(ATG13):c.129T>A:p.Ser43=	coding	Benign
11	46667803	T	C	T46667803C	ATG13	NM_001205119.1(ATG13):c.1167T>C:p.Ser389=	coding	Benign
11	46680520	G	A	G46680520A	ARHGAP1	NM_004308.5(ARHGAP1):c.787C>T:p.Leu263Phe	coding	Benign
11	46680675	G	T	G46680675T	ARHGAP1	NM_004308.5(ARHGAP1):c.708C>A:p.Pro236=	coding	Benign
11	46695733	C	T	C46695733T	ARHGAP1	NM_004308.5(ARHGAP1):c.156G>A:p.Pro52=	coding	Benign
11	46701545	C	G	C46701545G	ZNF408	NM_024741.3(ZNF408):c.199C>G:p.Leu67Val	coding	Benign
11	46702739	C	G	C46702739G	ZNF408	NM_024741.3(ZNF408):c.366C>G:p.Ala122=	coding	Benign
11	46704352	G	T	G46704352T	ZNF408	NM_024741.3(ZNF408):c.653-1G>T	noncoding	Pathogenic
11	46704603	G	T	G46704603T	ZNF408	NM_024741.3(ZNF408):c.903G>T:p.Pro301=	coding	Benign
11	46704710	G	C	G46704710C	ZNF408	NM_024741.3(ZNF408):c.1010G>C:p.Arg337Pro	coding	Benign
11	46705063	C	T	C46705063T	ZNF408	NM_024741.3(ZNF408):c.1363C>T:p.His455Tyr	coding	Pathogenic
11	46705197	G	A	G46705197A	ZNF408	NM_024741.3(ZNF408):c.1497G>A:p.Pro499=	coding	Benign
11	46705344	G	A	G46705344A	ZNF408	NM_024741.3(ZNF408):c.1644G>A:p.Gly548=	coding	Benign
11	46705397	T	A	T46705397A	ZNF408	NM_024741.3(ZNF408):c.1697T>A:p.Leu566His	coding	Pathogenic
11	46705455	C	T	C46705455T	ZNF408	NM_024741.3(ZNF408):c.1755C>T:p.Gly585=	coding	Benign
11	46705671	A	G	A46705671G	ZNF408	NM_024741.3(ZNF408):c.1971A>G:p.Gln657=	coding	Benign
11	46719321	G	A	G46719321A	F2	NM_000506.4(F2):c.79+7G>A	noncoding	Benign/Likely_benign
11	46723375	G	C	G46723375C	F2	NM_000506.4(F2):c.423-7G>C	noncoding	Benign/Likely_benign
11	46723439	C	T	C46723439T	F2	NM_000506.4(F2):c.480C>T:p.Pro160=	coding	Benign/Likely_benign
11	46723453	C	T	C46723453T	F2	NM_000506.4(F2):c.494C>T:p.Thr165Met	coding	Benign/Likely_benign
11	46726563	C	T	C46726563T	F2	NM_000506.3(F2):c.940C>T:p.Arg314Cys	coding	Pathogenic
11	46726734	G	A	G46726734A	F2	NM_000506.3(F2):c.1027G>A:p.Glu343Lys	coding	Pathogenic
11	46726761	G	A	G46726761A	F2	NM_000506.3(F2):c.1054G>A:p.Glu352Lys	coding	Pathogenic
11	46728004	T	C	T46728004C	F2	NM_000506.3(F2):c.1139T>C:p.Met380Thr	coding	Pathogenic
11	46728098	G	A	G46728098A	F2	NM_000506.4(F2):c.1233G>A:p.Pro411=	coding	Benign/Likely_benign
11	46728138	C	T	C46728138T	F2	NM_000506.3(F2):c.1273C>T:p.Arg425Cys	coding	Pathogenic
11	46728139	G	A	G46728139A	F2	NM_000506.4(F2):c.1274G>A:p.Arg425His	coding	Pathogenic
11	46728157	G	A	G46728157A	F2	NM_000506.3(F2):c.1292G>A:p.Arg431His	coding	Pathogenic
11	46728746	C	T	C46728746T	F2	NM_000506.3(F2):c.1381C>T:p.Arg461Trp	coding	Pathogenic
11	46739324	C	G	C46739324G	F2	NM_000506.3(F2):c.1785C>G:p.Asp595Glu	coding	Pathogenic
11	46739326	G	A	G46739326A	F2	NM_000506.5(F2):c.1787G>A:p.Arg596Gln	coding	Pathogenic
11	46739341	G	T	G46739341T	F2	NM_000506.3(F2):c.1802G>T:p.Gly601Val	coding	Pathogenic
11	46739396	G	A	G46739396A	F2	NM_000506.5(F2):c.1857G>A:p.Gln619=	coding	Benign
11	46856731	C	T	C46856731T	LRP4	NM_002334.4(LRP4):c.*2252G>A	noncoding	Benign
11	46856903	A	G	A46856903G	LRP4	NM_002334.4(LRP4):c.*2080T>C	noncoding	Benign
11	46857356	T	C	T46857356C	LRP4	NM_002334.4(LRP4):c.*1627A>G	noncoding	Benign
11	46857538	T	C	T46857538C	LRP4	NM_002334.4(LRP4):c.*1445A>G	noncoding	Benign
11	46857832	G	A	G46857832A	LRP4	NM_002334.4(LRP4):c.*1151C>T	noncoding	Benign
11	46857966	G	A	G46857966A	LRP4	NM_002334.4(LRP4):c.*1017C>T	noncoding	Benign
11	46858422	A	G	A46858422G	LRP4	NM_002334.4(LRP4):c.*561T>C	noncoding	Benign
11	46858929	C	T	C46858929T	LRP4	NM_002334.4(LRP4):c.*54G>A	noncoding	Benign
11	46864526	A	T	A46864526T	LRP4	NM_002334.4(LRP4):c.5165T>A:p.Leu1722His	coding	Benign/Likely_benign
11	46868056	C	T	C46868056T	LRP4	NM_002334.4(LRP4):c.5010G>A:p.Val1670=	coding	Benign
11	46868614	C	T	C46868614T	LRP4	NM_002334.4(LRP4):c.4937G>A:p.Arg1646Gln	coding	Benign
11	46868646	G	A	G46868646A	LRP4	NM_002334.4(LRP4):c.4905C>T:p.Phe1635=	coding	Benign
11	46868978	G	A	G46868978A	LRP4	NM_002334.4(LRP4):c.4837+10C>T	noncoding	Benign/Likely_benign
11	46871543	G	A	G46871543A	LRP4	NM_002334.4(LRP4):c.4674C>T:p.His1558=	coding	Benign/Likely_benign
11	46871557	T	C	T46871557C	LRP4	NM_002334.4(LRP4):c.4660A>G:p.Ser1554Gly	coding	Benign
11	46875084	C	T	C46875084T	LRP4	NM_002334.4(LRP4):c.3945G>A:p.Ser1315=	coding	Benign/Likely_benign
11	46875806	C	T	C46875806T	LRP4	NM_002334.4(LRP4):c.3697G>A:p.Glu1233Lys	coding	Pathogenic
11	46875895	G	A	G46875895A	LRP4	NM_002334.4(LRP4):c.3608C>T:p.Ala1203Val	coding	Benign
11	46876494	G	A	G46876494A	LRP4	NM_002334.4(LRP4):c.3508C>T:p.Arg1170Trp	coding	Pathogenic
11	46877220	T	C	T46877220C	LRP4	NM_002334.4(LRP4):c.3256A>G:p.Ile1086Val	coding	Benign
11	46879264	C	A	C46879264A	LRP4	NM_002334.4(LRP4):c.2866G>T:p.Glu956Ter	coding	Pathogenic
11	46889475	G	A	G46889475A	LRP4	NM_002334.4(LRP4):c.2151C>T:p.Gly717=	coding	Benign
11	46890364	G	A	G46890364A	LRP4	NM_002334.4(LRP4):c.1828C>T:p.Arg610Cys	coding	Benign
11	46892975	C	T	C46892975T	LRP4	NM_002334.4(LRP4):c.1695G>A:p.Glu565=	coding	Benign/Likely_benign
11	46893032	T	C	T46893032C	LRP4	NM_002334.4(LRP4):c.1638A>G:p.Lys546=	coding	Benign
11	46893047	A	G	A46893047G	LRP4	NM_002334.4(LRP4):c.1623T>C:p.Asp541=	coding	Benign
11	46893085	C	T	C46893085T	LRP4	NM_002334.4(LRP4):c.1585G>A:p.Asp529Asn	coding	Pathogenic
11	46894628	T	G	T46894628G	LRP4	NM_002334.4(LRP4):c.1501A>C:p.Asn501His	coding	Benign/Likely_benign
11	46894635	G	A	G46894635A	LRP4	NM_002334.4(LRP4):c.1494C>T:p.Asn498=	coding	Benign
11	46894748	T	G	T46894748G	LRP4	NM_002334.4(LRP4):c.1381A>C:p.Thr461Pro	coding	Pathogenic
11	46894764	T	C	T46894764C	LRP4	NM_002334.4(LRP4):c.1365A>G:p.Pro455=	coding	Benign
11	46894784	C	T	C46894784T	LRP4	NM_002334.4(LRP4):c.1345G>A:p.Asp449Asn	coding	Pathogenic
11	46895284	A	G	A46895284G	LRP4	NM_002334.4(LRP4):c.1191T>C:p.Asn397=	coding	Benign
11	46895950	G	A	G46895950A	LRP4	NM_002334.4(LRP4):c.1117C>T:p.Arg373Trp	coding	Benign/Likely_benign
11	46896253	G	A	G46896253A	LRP4	NM_002334.4(LRP4):c.1005C>T:p.Asn335=	coding	Benign
11	46896261	C	T	C46896261T	LRP4	NM_002334.4(LRP4):c.997G>A:p.Gly333Arg	coding	Benign/Likely_benign
11	46896317	A	G	A46896317G	LRP4	NM_002334.4(LRP4):c.941T>C:p.Leu314Ser	coding	Benign/Likely_benign
11	46896978	C	T	C46896978T	LRP4	NM_002334.4(LRP4):c.813G>A:p.Thr271=	coding	Benign/Likely_benign
11	46899386	C	T	C46899386T	LRP4	NM_002334.4(LRP4):c.547+1G>A	noncoding	Pathogenic
11	46899455	C	T	C46899455T	LRP4	NM_002334.4(LRP4):c.479G>A:p.Cys160Tyr	coding	Pathogenic
11	46899511	G	A	G46899511A	LRP4	NM_002334.4(LRP4):c.431-8C>T	noncoding	Benign/Likely_benign
11	46899515	C	T	C46899515T	LRP4	NM_002334.4(LRP4):c.431-12G>A	noncoding	Benign
11	46899884	C	T	C46899884T	LRP4	NM_002334.4(LRP4):c.409G>A:p.Asp137Asn	coding	Pathogenic
11	46899906	G	A	G46899906A	LRP4	NM_002334.4(LRP4):c.387C>T:p.Cys129=	coding	Benign
11	46900261	C	T	C46900261T	LRP4	NM_002334.4(LRP4):c.316+1G>A	noncoding	Pathogenic
11	46900278	C	T	C46900278T	LRP4	NM_002334.4(LRP4):c.300G>A:p.Ser100=	coding	Benign
11	46900387	C	T	C46900387T	LRP4	NM_002334.4(LRP4):c.200-9G>A	noncoding	Pathogenic
11	46902841	G	C	G46902841C	LRP4	NM_002334.4(LRP4):c.141C>G:p.Ala47=	coding	Benign
11	46902853	G	C	G46902853C	LRP4	NM_002334.4(LRP4):c.129C>G:p.Thr43=	coding	Benign/Likely_benign
11	46918567	G	A	G46918567A	LRP4	NM_002334.3(LRP4):c.-188C>T	noncoding	Benign
11	46918616	C	G	C46918616G	LRP4	NM_002334.3(LRP4):c.-237G>C	noncoding	Benign
11	47215017	G	A	G47215017A	DDB2	NM_000107.2(DDB2):c.-120G>A	noncoding	Benign
11	47217057	G	C	G47217057C	DDB2	NM_000107.3(DDB2):c.456+8G>C	noncoding	Benign
11	47234784	A	G	A47234784G	DDB2	NM_001300734.1(DDB2):c.457-3053A>G	coding	Pathogenic
11	47234792	G	A	G47234792A	DDB2	NM_000107.2(DDB2):c.738G>A:p.Thr246=	coding	Benign/Likely_benign
11	47234872	G	A	G47234872A	DDB2	NM_001300734.1(DDB2):c.457-2965G>A	coding	Pathogenic
11	47235308	G	T	G47235308T	DDB2	NM_001300734.1(DDB2):c.457-2529G>T	coding	Pathogenic
11	47235326	C	T	C47235326T	DDB2	NM_001300734.1(DDB2):c.457-2511C>T	coding	Pathogenic
11	47238926	C	T	C47238926T	DDB2	NM_000107.2(DDB2):c.*77C>T	noncoding	Benign
11	47239000	C	A	C47239000A	DDB2	NM_000107.2(DDB2):c.*151C>A	noncoding	Benign
11	47240140	G	A	G47240140A	ACP2	NM_001610.4(ACP2):c.1248C>T:p.Val416=	coding	Benign
11	47240211	A	G	A47240211G	ACP2	NM_001610.4(ACP2):c.1177T>C:p.Phe393Leu	coding	Benign
11	47242719	T	C	T47242719C	ACP2	NM_001610.4(ACP2):c.1138+4A>G	noncoding	Benign
11	47243128	C	T	C47243128T	ACP2	NM_001610.4(ACP2):c.856-4G>A	noncoding	Benign
11	47245528	C	T	C47245528T	ACP2	NM_001610.4(ACP2):c.495G>A:p.Leu165=	coding	Benign
11	47247656	A	C	A47247656C	ACP2	NM_001610.4(ACP2):c.282T>G:p.Ser94=	coding	Benign
11	47248704	C	T	C47248704T	ACP2	NM_001610.4(ACP2):c.86G>A:p.Arg29Gln	coding	Benign
11	47259902	G	T	G47259902T	NR1H3	NM_005693.4(NR1H3):c.155G>T:p.Gly52Val	coding	Benign
11	47268596	G	A	G47268596A	NR1H3	NM_005693.4(NR1H3):c.1244G>A:p.Arg415Gln	coding	Pathogenic
11	47274631	C	A	C47274631A	MADD	NM_003682.4(MADD):c.131C>A:p.Thr44Asn	coding	Benign
11	47274982	G	A	G47274982A	MADD	NM_003682.4(MADD):c.482G>A:p.Arg161His	coding	Benign
11	47275093	G	A	G47275093A	MADD	NM_003682.4(MADD):c.593G>A:p.Arg198His	coding	Pathogenic
11	47275150	G	A	G47275150A	MADD	NM_003682.4(MADD):c.650G>A:p.Gly217Asp	coding	Benign
11	47276009	C	T	C47276009T	MADD	NM_003682.4(MADD):c.770C>T:p.Ser257Phe	coding	Pathogenic
11	47276153	G	T	G47276153T	MADD	NM_003682.4(MADD):c.914G>T:p.Gly305Val	coding	Pathogenic
11	47276203	G	A	G47276203A	MADD	NM_003682.4(MADD):c.963+1G>A	coding	Pathogenic
11	47276829	C	T	C47276829T	MADD	NM_003682.4(MADD):c.1061C>T:p.Pro354Leu	coding	Pathogenic
11	47279082	A	G	A47279082G	MADD	NM_003682.4(MADD):c.1290+3A>G	noncoding	Benign
11	47281614	A	G	A47281614G	MADD	NM_003682.4(MADD):c.1330A>G:p.Asn444Asp	coding	Benign
11	47282913	T	A	T47282913A	MADD	NM_003682.4(MADD):c.1806T>A:p.Ala602=	coding	Benign
11	47331507	C	T	C47331507T	MYBPC3	NM_000256.3(MYBPC3):c.*236G>A	noncoding	Benign/Likely_benign
11	47331630	C	A	C47331630A	MYBPC3	NM_000256.3(MYBPC3):c.*113G>T	noncoding	Benign/Likely_benign
11	47331831	C	T	C47331831T	MYBPC3	NM_000256.3(MYBPC3):c.*26+14G>A	noncoding	Benign
11	47332075	G	A	G47332075A	MYBPC3	NM_000256.3(MYBPC3):c.3811C>T:p.Arg1271Ter	coding	Pathogenic/Likely_pathogenic
11	47332111	G	A	G47332111A	MYBPC3	NM_000256.3(MYBPC3):c.3775C>T:p.Gln1259Ter	coding	Pathogenic
11	47332113	A	C	A47332113C	MYBPC3	NM_000256.3(MYBPC3):c.3773T>G:p.Leu1258Ter	coding	Pathogenic/Likely_pathogenic
11	47332133	A	C	A47332133C	MYBPC3	NM_000256.3(MYBPC3):c.3753T>G:p.Tyr1251Ter	coding	Pathogenic
11	47332154	G	T	G47332154T	MYBPC3	NM_000256.3(MYBPC3):c.3732C>A:p.Cys1244Ter	coding	Pathogenic/Likely_pathogenic
11	47332187	C	T	C47332187T	MYBPC3	NM_000256.3(MYBPC3):c.3699G>A:p.Gln1233=	coding	Benign/Likely_benign
11	47332189	G	A	G47332189A	MYBPC3	NM_000256.3(MYBPC3):c.3697C>T:p.Gln1233Ter	coding	Pathogenic/Likely_pathogenic
11	47332192	T	A	T47332192A	MYBPC3	NM_000256.3(MYBPC3):c.3694A>T:p.Lys1232Ter	coding	Pathogenic/Likely_pathogenic
11	47332214	G	A	G47332214A	MYBPC3	NM_000256.3(MYBPC3):c.3672C>T:p.Asp1224=	coding	Benign/Likely_benign
11	47332222	C	A	C47332222A	MYBPC3	NM_000256.3(MYBPC3):c.3664G>T:p.Gly1222Ter	coding	Pathogenic
11	47332244	C	T	C47332244T	MYBPC3	NM_000256.3(MYBPC3):c.3642G>A:p.Trp1214Ter	coding	Pathogenic/Likely_pathogenic
11	47332245	C	T	C47332245T	MYBPC3	NM_000256.3(MYBPC3):c.3641G>A:p.Trp1214Ter	coding	Pathogenic
11	47332517	G	A	G47332517A	MYBPC3	NM_000256.3(MYBPC3):c.3627+49C>T	noncoding	Benign
11	47332549	C	T	C47332549T	MYBPC3	NM_000256.3(MYBPC3):c.3627+17G>A	noncoding	Benign
11	47332564	A	C	A47332564C	MYBPC3	NM_000256.3(MYBPC3):c.3627+2T>G	noncoding	Pathogenic
11	47332565	C	T	C47332565T	MYBPC3	NM_000256.3(MYBPC3):c.3627+1G>A	noncoding	Pathogenic
11	47332576	C	T	C47332576T	MYBPC3	NM_000256.3(MYBPC3):c.3617G>A:p.Gly1206Asp	coding	Pathogenic
11	47332621	G	T	G47332621T	MYBPC3	NM_000256.3(MYBPC3):c.3572C>A:p.Ser1191Ter	coding	Pathogenic
11	47332640	G	A	G47332640A	MYBPC3	NM_000256.3(MYBPC3):c.3553C>T:p.Gln1185Ter	coding	Pathogenic
11	47332704	T	A	T47332704A	MYBPC3	NM_000256.3(MYBPC3):c.3491-2A>T	noncoding	Pathogenic/Likely_pathogenic
11	47332813	C	A	C47332813A	MYBPC3	NM_000256.3(MYBPC3):c.3490+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	47332813	C	T	C47332813T	MYBPC3	NM_000256.3(MYBPC3):c.3490+1G>A	noncoding	Pathogenic
11	47332896	G	C	G47332896C	MYBPC3	NM_000256.3(MYBPC3):c.3408C>G:p.Tyr1136Ter	coding	Pathogenic
11	47332896	G	T	G47332896T	MYBPC3	NM_000256.3(MYBPC3):c.3408C>A:p.Tyr1136Ter	coding	Pathogenic
11	47332932	G	T	G47332932T	MYBPC3	NM_000256.3(MYBPC3):c.3372C>A:p.Cys1124Ter	coding	Pathogenic
11	47332947	G	T	G47332947T	MYBPC3	NM_000256.3(MYBPC3):c.3357C>A:p.Tyr1119Ter	coding	Pathogenic
11	47332969	C	T	C47332969T	MYBPC3	NM_000256.3(MYBPC3):c.3335G>A:p.Trp1112Ter	coding	Pathogenic
11	47332974	C	G	C47332974G	MYBPC3	NM_000256.3(MYBPC3):c.3331-1G>C	coding	Pathogenic/Likely_pathogenic
11	47332974	C	T	C47332974T	MYBPC3	NM_000256.3(MYBPC3):c.3331-1G>A	coding	Pathogenic/Likely_pathogenic
11	47332975	T	G	T47332975G	MYBPC3	NM_000256.3(MYBPC3):c.3331-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	47333189	C	A	C47333189A	MYBPC3	NM_000256.3(MYBPC3):c.3330+5G>T	noncoding	Pathogenic/Likely_pathogenic
11	47333189	C	G	C47333189G	MYBPC3	NM_000256.3(MYBPC3):c.3330+5G>C	noncoding	Pathogenic/Likely_pathogenic
11	47333189	C	T	C47333189T	MYBPC3	NM_000256.3(MYBPC3):c.3330+5G>A	noncoding	Pathogenic
11	47333192	A	C	A47333192C	MYBPC3	NM_000256.3(MYBPC3):c.3330+2T>G	noncoding	Pathogenic
11	47333192	A	G	A47333192G	MYBPC3	NM_000256.3(MYBPC3):c.3330+2T>C	noncoding	Pathogenic
11	47333209	G	A	G47333209A	MYBPC3	NM_000256.3(MYBPC3):c.3315C>T:p.Ala1105=	coding	Benign/Likely_benign
11	47333230	C	T	C47333230T	MYBPC3	NM_000256.3(MYBPC3):c.3294G>A:p.Trp1098Ter	coding	Pathogenic
11	47333231	C	T	C47333231T	MYBPC3	NM_000256.3(MYBPC3):c.3293G>A:p.Trp1098Ter	coding	Pathogenic
11	47333236	C	T	C47333236T	MYBPC3	NM_000256.3(MYBPC3):c.3288G>A:p.Glu1096=	coding	Benign
11	47333238	C	A	C47333238A	MYBPC3	NM_000256.3(MYBPC3):c.3286G>T:p.Glu1096Ter	coding	Pathogenic/Likely_pathogenic
11	47333239	C	T	C47333239T	MYBPC3	NM_000256.3(MYBPC3):c.3285G>A:p.Thr1095=	coding	Benign/Likely_benign
11	47333248	G	A	G47333248A	MYBPC3	NM_000256.3(MYBPC3):c.3276C>T:p.Val1092=	coding	Benign/Likely_benign
11	47333266	C	T	C47333266T	MYBPC3	NM_000256.3(MYBPC3):c.3258G>A:p.Trp1086Ter	coding	Pathogenic
11	47333267	C	T	C47333267T	MYBPC3	NM_000256.3(MYBPC3):c.3257G>A:p.Trp1086Ter	coding	Pathogenic
11	47333271	C	A	C47333271A	MYBPC3	NM_000256.3(MYBPC3):c.3253G>T:p.Glu1085Ter	coding	Pathogenic/Likely_pathogenic
11	47333291	C	T	C47333291T	MYBPC3	NM_000256.3(MYBPC3):c.3233G>A:p.Trp1078Ter	coding	Pathogenic
11	47333336	G	C	G47333336C	MYBPC3	NM_000256.3(MYBPC3):c.3191-3C>G	noncoding	Pathogenic
11	47333354	T	C	T47333354C	MYBPC3	NM_000256.3(MYBPC3):c.3191-21A>G	noncoding	Benign
11	47333552	C	T	C47333552T	MYBPC3	NM_000256.3(MYBPC3):c.3190+5G>A	noncoding	Pathogenic
11	47333555	A	C	A47333555C	MYBPC3	NM_000256.3(MYBPC3):c.3190+2T>G	noncoding	Pathogenic
11	47333556	C	T	C47333556T	MYBPC3	NM_000256.3(MYBPC3):c.3190+1G>A	noncoding	Pathogenic
11	47333566	G	A	G47333566A	MYBPC3	NM_000256.3(MYBPC3):c.3181C>T:p.Gln1061Ter	coding	Pathogenic
11	47333609	C	T	C47333609T	MYBPC3	NM_000256.3(MYBPC3):c.3138G>A:p.Thr1046=	coding	Benign/Likely_benign
11	47333618	G	T	G47333618T	MYBPC3	NM_000256.3(MYBPC3):c.3129C>A:p.Tyr1043Ter	coding	Pathogenic
11	47333641	G	A	G47333641A	MYBPC3	NM_000256.3(MYBPC3):c.3106C>T:p.Arg1036Cys	coding	Benign/Likely_benign
11	47333713	G	A	G47333713A	MYBPC3	NM_000256.3(MYBPC3):c.3034C>T:p.Gln1012Ter	coding	Pathogenic
11	47333726	C	T	C47333726T	MYBPC3	NM_000256.3(MYBPC3):c.3021G>A:p.Trp1007Ter	coding	Pathogenic
11	47333743	G	A	G47333743A	MYBPC3	NM_000256.3(MYBPC3):c.3004C>T:p.Arg1002Trp	coding	Benign/Likely_benign
11	47333750	G	A	G47333750A	MYBPC3	NM_000256.3(MYBPC3):c.2997C>T:p.Gly999=	coding	Benign/Likely_benign
11	47333753	C	T	C47333753T	MYBPC3	NM_000256.3(MYBPC3):c.2995-1G>A	coding	Pathogenic
11	47333920	A	G	A47333920G	MYBPC3	NM_000256.3(MYBPC3):c.2994+2T>C	noncoding	Pathogenic
11	47333924	G	A	G47333924A	MYBPC3	NM_000256.3(MYBPC3):c.2992C>T:p.Gln998Ter	coding	Pathogenic
11	47333924	G	C	G47333924C	MYBPC3	NM_000256.3(MYBPC3):c.2992C>G:p.Gln998Glu	coding	Benign/Likely_benign
11	47333951	C	A	C47333951A	MYBPC3	NM_000256.3(MYBPC3):c.2965G>T:p.Glu989Ter	coding	Pathogenic
11	47333955	G	A	G47333955A	MYBPC3	NM_000256.3(MYBPC3):c.2961C>T:p.Val987=	coding	Benign/Likely_benign
11	47333963	T	A	T47333963A	MYBPC3	NM_000256.3(MYBPC3):c.2953A>T:p.Lys985Ter	coding	Pathogenic
11	47333966	G	A	G47333966A	MYBPC3	NM_000256.3(MYBPC3):c.2950C>T:p.Gln984Ter	coding	Pathogenic
11	47333996	G	A	G47333996A	MYBPC3	NM_000256.3(MYBPC3):c.2920C>T:p.Gln974Ter	coding	Pathogenic
11	47335041	C	G	C47335041G	MYBPC3	NM_000256.3(MYBPC3):c.2905+1G>C	noncoding	Pathogenic
11	47335042	G	A	G47335042A	MYBPC3	NM_000256.3(MYBPC3):c.2905C>T:p.Gln969Ter	coding	Pathogenic
11	47335054	G	A	G47335054A	MYBPC3	NM_000256.3(MYBPC3):c.2893C>T:p.Gln965Ter	coding	Pathogenic
11	47335104	T	G	T47335104G	MYBPC3	NM_000256.3(MYBPC3):c.2843A>C:p.Asn948Thr	coding	Pathogenic
11	47335120	G	A	G47335120A	MYBPC3	NM_000256.3(MYBPC3):c.2827C>T:p.Arg943Ter	coding	Pathogenic
11	47335139	C	T	C47335139T	MYBPC3	NM_000256.3(MYBPC3):c.2808G>A:p.Thr936=	coding	Benign/Likely_benign
11	47335199	C	T	C47335199T	MYBPC3	NM_000256.3(MYBPC3):c.2748G>A:p.Trp916Ter	coding	Pathogenic
11	47335200	C	T	C47335200T	MYBPC3	NM_000256.3(MYBPC3):c.2747G>A:p.Trp916Ter	coding	Pathogenic
11	47335210	C	T	C47335210T	MYBPC3	NM_000256.3(MYBPC3):c.2738-1G>A	coding	Pathogenic
11	47335865	G	A	G47335865A	MYBPC3	NM_000256.3(MYBPC3):c.2737+12C>T	noncoding	Benign
11	47335875	A	T	A47335875T	MYBPC3	NM_000256.3(MYBPC3):c.2737+2T>A	noncoding	Pathogenic
11	47335876	C	G	C47335876G	MYBPC3	NM_000256.3(MYBPC3):c.2737+1G>C	noncoding	Pathogenic
11	47335876	C	T	C47335876T	MYBPC3	NM_000256.3(MYBPC3):c.2737+1G>A	noncoding	Pathogenic
11	47335887	G	T	G47335887T	MYBPC3	NM_000256.3(MYBPC3):c.2727C>A:p.Cys909Ter	coding	Pathogenic
11	47335895	C	A	C47335895A	MYBPC3	NM_000256.3(MYBPC3):c.2719G>T:p.Glu907Ter	coding	Pathogenic
11	47335928	C	T	C47335928T	MYBPC3	NM_000256.3(MYBPC3):c.2686G>A:p.Val896Met	coding	Benign/Likely_benign
11	47335944	C	T	C47335944T	MYBPC3	NM_000256.3(MYBPC3):c.2670G>A:p.Trp890Ter	coding	Pathogenic
11	47335974	G	A	G47335974A	MYBPC3	NM_000256.3(MYBPC3):c.2640C>T:p.Asp880=	coding	Benign/Likely_benign
11	47336000	C	T	C47336000T	MYBPC3	NM_000256.3(MYBPC3):c.2614G>A:p.Glu872Lys	coding	Benign/Likely_benign
11	47336012	C	G	C47336012G	MYBPC3	NM_000256.3(MYBPC3):c.2603-1G>C	coding	Pathogenic/Likely_pathogenic
11	47337392	G	A	G47337392A	MYBPC3	NM_000256.3(MYBPC3):c.2601C>T:p.Ile867=	coding	Benign/Likely_benign
11	47337446	G	A	G47337446A	MYBPC3	NM_000256.3(MYBPC3):c.2547C>T:p.Val849=	coding	Benign
11	47337452	G	C	G47337452C	MYBPC3	NM_000256.3(MYBPC3):c.2541C>G:p.Tyr847Ter	coding	Pathogenic/Likely_pathogenic
11	47337452	G	T	G47337452T	MYBPC3	NM_000256.3(MYBPC3):c.2541C>A:p.Tyr847Ter	coding	Pathogenic
11	47337467	G	C	G47337467C	MYBPC3	NM_000256.3(MYBPC3):c.2526C>G:p.Tyr842Ter	coding	Pathogenic
11	47337467	G	T	G47337467T	MYBPC3	NM_000256.3(MYBPC3):c.2526C>A:p.Tyr842Ter	coding	Pathogenic
11	47337481	C	A	C47337481A	MYBPC3	NM_000256.3(MYBPC3):c.2512G>T:p.Glu838Ter	coding	Pathogenic
11	47337495	G	A	G47337495A	MYBPC3	NM_000256.3(MYBPC3):c.2498C>T:p.Ala833Val	coding	Benign/Likely_benign
11	47337506	C	A	C47337506A	MYBPC3	NM_000256.3(MYBPC3):c.2487G>T:p.Leu829=	coding	Benign/Likely_benign
11	47337533	C	T	C47337533T	MYBPC3	NM_000256.3(MYBPC3):c.2460G>A:p.Arg820=	coding	Benign/Likely_benign
11	47337534	C	T	C47337534T	MYBPC3	NM_000256.3(MYBPC3):c.2459G>A:p.Arg820Gln	coding	Pathogenic/Likely_pathogenic
11	47337539	C	T	C47337539T	MYBPC3	NM_000256.3(MYBPC3):c.2454G>A:p.Trp818Ter	coding	Pathogenic
11	47337540	C	T	C47337540T	MYBPC3	NM_000256.3(MYBPC3):c.2453G>A:p.Trp818Ter	coding	Pathogenic
11	47337544	G	A	G47337544A	MYBPC3	NM_000256.3(MYBPC3):c.2449C>T:p.Arg817Trp	coding	Pathogenic/Likely_pathogenic
11	47337556	T	A	T47337556A	MYBPC3	NM_000256.3(MYBPC3):c.2437A>T:p.Lys813Ter	coding	Pathogenic
11	47337579	C	T	C47337579T	MYBPC3	NM_000256.3(MYBPC3):c.2414G>A:p.Gly805Asp	coding	Pathogenic
11	47337689	C	T	C47337689T	MYBPC3	NM_000256.3(MYBPC3):c.2413+1G>A	noncoding	Pathogenic
11	47337712	G	C	G47337712C	MYBPC3	NM_000256.3(MYBPC3):c.2391C>G:p.Tyr797Ter	coding	Pathogenic
11	47337712	G	T	G47337712T	MYBPC3	NM_000256.3(MYBPC3):c.2391C>A:p.Tyr797Ter	coding	Pathogenic
11	47337727	C	T	C47337727T	MYBPC3	NM_000256.3(MYBPC3):c.2376G>A:p.Trp792Ter	coding	Pathogenic/Likely_pathogenic
11	47337729	A	G	A47337729G	MYBPC3	NM_000256.3(MYBPC3):c.2374T>C:p.Trp792Arg	coding	Pathogenic/Likely_pathogenic
11	47337732	G	A	G47337732A	MYBPC3	NM_000256.3(MYBPC3):c.2371C>T:p.Gln791Ter	coding	Pathogenic/Likely_pathogenic
11	47337796	T	C	T47337796C	MYBPC3	NM_000256.3(MYBPC3):c.2309-2A>G	noncoding	Pathogenic
11	47337820	T	C	T47337820C	MYBPC3	NM_000256.3(MYBPC3):c.2309-26A>G	noncoding	Pathogenic
11	47338502	G	C	G47338502C	MYBPC3	NM_000256.3(MYBPC3):c.2308+18C>G	noncoding	Benign
11	47338508	G	A	G47338508A	MYBPC3	NM_000256.3(MYBPC3):c.2308+12C>T	noncoding	Benign/Likely_benign
11	47338512	G	A	G47338512A	MYBPC3	NM_000256.3(MYBPC3):c.2308+8C>T	noncoding	Benign
11	47338519	C	A	C47338519A	MYBPC3	NM_000256.3(MYBPC3):c.2308+1G>T	noncoding	Pathogenic
11	47338519	C	T	C47338519T	MYBPC3	NM_000256.3(MYBPC3):c.2308+1G>A	noncoding	Pathogenic
11	47338520	C	T	C47338520T	MYBPC3	NM_000256.3(MYBPC3):c.2308G>A:p.Asp770Asn	coding	Pathogenic/Likely_pathogenic
11	47338563	G	T	G47338563T	MYBPC3	NM_000256.3(MYBPC3):c.2265C>A:p.Asn755Lys	coding	Pathogenic
11	47338587	G	A	G47338587A	MYBPC3	NM_000256.3(MYBPC3):c.2241C>T:p.Gly747=	coding	Benign/Likely_benign
11	47338646	C	A	C47338646A	MYBPC3	NM_000256.3(MYBPC3):c.2182G>T:p.Glu728Ter	coding	Pathogenic
11	47338670	C	A	C47338670A	MYBPC3	NM_000256.3(MYBPC3):c.2158G>T:p.Glu720Ter	coding	Pathogenic
11	47338680	C	A	C47338680A	MYBPC3	NM_000256.3(MYBPC3):c.2149-1G>T	coding	Pathogenic
11	47338680	C	T	C47338680T	MYBPC3	NM_000256.3(MYBPC3):c.2149-1G>A	coding	Pathogenic
11	47338684	G	A	G47338684A	MYBPC3	NM_000256.3(MYBPC3):c.2149-5C>T	noncoding	Benign/Likely_benign
11	47338861	T	C	T47338861C	MYBPC3	NM_000256.3(MYBPC3):c.2149-182A>G	noncoding	Benign
11	47339650	C	T	C47339650T	MYBPC3	NM_000256.3(MYBPC3):c.2067+1G>A	noncoding	Pathogenic
11	47339653	G	A	G47339653A	MYBPC3	NM_000256.3(MYBPC3):c.2065C>T:p.Gln689Ter	coding	Pathogenic/Likely_pathogenic
11	47339670	C	T	C47339670T	MYBPC3	NM_000256.3(MYBPC3):c.2048G>A:p.Trp683Ter	coding	Pathogenic
11	47339792	T	C	T47339792C	MYBPC3	NM_000256.3(MYBPC3):c.1928-2A>G	noncoding	Pathogenic
11	47340728	A	G	A47340728G	MYBPC3	NM_000256.3(MYBPC3):c.1927+275T>C	noncoding	Benign
11	47340788	G	A	G47340788A	MYBPC3	NM_000256.3(MYBPC3):c.1927+215C>T	noncoding	Benign
11	47341003	C	A	C47341003A	MYBPC3	NM_000256.3(MYBPC3):c.1927G>T:p.Glu643Ter	coding	Pathogenic
11	47341006	G	A	G47341006A	MYBPC3	NM_000256.3(MYBPC3):c.1924C>T:p.Gln642Ter	coding	Pathogenic
11	47341033	C	T	C47341033T	MYBPC3	NM_000256.3(MYBPC3):c.1898-1G>A	coding	Pathogenic/Likely_pathogenic
11	47341137	C	T	C47341137T	MYBPC3	NM_000256.3(MYBPC3):c.1897+1G>A	noncoding	Pathogenic
11	47341166	G	A	G47341166A	MYBPC3	NM_000256.3(MYBPC3):c.1869C>T:p.Cys623=	coding	Benign/Likely_benign
11	47341172	G	A	G47341172A	MYBPC3	NM_000256.3(MYBPC3):c.1863C>T:p.Phe621=	coding	Benign/Likely_benign
11	47341246	T	G	T47341246G	MYBPC3	NM_000256.3(MYBPC3):c.1791-2A>C	noncoding	Pathogenic
11	47341734	G	A	G47341734A	MYBPC3	NM_000256.3(MYBPC3):c.1790+257C>T	noncoding	Benign
11	47341984	C	T	C47341984T	MYBPC3	NM_000256.3(MYBPC3):c.1790+7G>A	noncoding	Benign/Likely_benign
11	47341990	C	T	C47341990T	MYBPC3	NM_000256.3(MYBPC3):c.1790+1G>A	noncoding	Pathogenic
11	47342050	C	T	C47342050T	MYBPC3	NM_000256.3(MYBPC3):c.1731G>A:p.Trp577Ter	coding	Pathogenic/Likely_pathogenic
11	47342088	T	A	T47342088A	MYBPC3	NM_000256.3(MYBPC3):c.1693A>T:p.Lys565Ter	coding	Pathogenic
11	47342573	C	T	C47342573T	MYBPC3	NM_000256.3(MYBPC3):c.1624+5G>A	noncoding	Pathogenic
11	47342574	T	A	T47342574A	MYBPC3	NM_000256.3(MYBPC3):c.1624+4A>T	noncoding	Pathogenic
11	47342576	A	G	A47342576G	MYBPC3	NM_000256.3(MYBPC3):c.1624+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	47342578	C	A	C47342578A	MYBPC3	NM_000256.3(MYBPC3):c.1624G>T:p.Glu542Ter	coding	Pathogenic
11	47342578	C	G	C47342578G	MYBPC3	NM_000256.3(MYBPC3):c.1624G>C:p.Glu542Gln	coding	Pathogenic
11	47342581	G	A	G47342581A	MYBPC3	NM_000256.3(MYBPC3):c.1621C>T:p.Gln541Ter	coding	Pathogenic
11	47342600	C	T	C47342600T	MYBPC3	NM_000256.3(MYBPC3):c.1602G>A:p.Ala534=	coding	Benign/Likely_benign
11	47342627	A	C	A47342627C	MYBPC3	NM_000256.3(MYBPC3):c.1575T>G:p.Tyr525Ter	coding	Pathogenic/Likely_pathogenic
11	47342638	C	T	C47342638T	MYBPC3	NM_000256.3(MYBPC3):c.1564G>A:p.Ala522Thr	coding	Benign/Likely_benign
11	47342680	G	A	G47342680A	MYBPC3	NM_000256.3(MYBPC3):c.1522C>T:p.Gln508Ter	coding	Pathogenic
11	47342697	C	T	C47342697T	MYBPC3	NM_000256.3(MYBPC3):c.1505G>A:p.Arg502Gln	coding	Pathogenic/Likely_pathogenic
11	47342718	C	T	C47342718T	MYBPC3	NM_000256.3(MYBPC3):c.1484G>A:p.Arg495Gln	coding	Pathogenic/Likely_pathogenic
11	47342719	G	A	G47342719A	MYBPC3	NM_000256.3(MYBPC3):c.1483C>T:p.Arg495Trp	coding	Pathogenic/Likely_pathogenic
11	47342719	G	C	G47342719C	MYBPC3	NM_000256.3(MYBPC3):c.1483C>G:p.Arg495Gly	coding	Pathogenic/Likely_pathogenic
11	47342733	C	A	C47342733A	MYBPC3	NM_000256.3(MYBPC3):c.1469G>T:p.Gly490Val	coding	Pathogenic
11	47342735	G	A	G47342735A	MYBPC3	NM_000256.3(MYBPC3):c.1467C>T:p.Asp489=	coding	Benign/Likely_benign
11	47342744	C	T	C47342744T	MYBPC3	NM_000256.3(MYBPC3):c.1458G>A:p.Trp486Ter	coding	Pathogenic
11	47342745	C	A	C47342745A	MYBPC3	NM_000256.3(MYBPC3):c.1458-1G>T	coding	Pathogenic
11	47342745	C	G	C47342745G	MYBPC3	NM_000256.3(MYBPC3):c.1458-1G>C	coding	Pathogenic
11	47342745	C	T	C47342745T	MYBPC3	NM_000256.3(MYBPC3):c.1458-1G>A	coding	Pathogenic
11	47342810	C	A	C47342810A	MYBPC3	NM_000256.3(MYBPC3):c.1457+20G>T	noncoding	Benign
11	47342830	C	T	C47342830T	MYBPC3	NM_000256.3(MYBPC3):c.1457G>A:p.Trp486Ter	coding	Pathogenic
11	47342856	T	C	T47342856C	MYBPC3	NM_000256.3(MYBPC3):c.1431A>G:p.Val477=	coding	Benign
11	47342882	G	A	G47342882A	MYBPC3	NM_000256.3(MYBPC3):c.1405C>T:p.Gln469Ter	coding	Pathogenic
11	47342900	G	A	G47342900A	MYBPC3	NM_000256.3(MYBPC3):c.1387C>T:p.Gln463Ter	coding	Pathogenic
11	47343019	A	G	A47343019G	MYBPC3	NM_000256.3(MYBPC3):c.1351+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	47343020	C	G	C47343020G	MYBPC3	NM_000256.3(MYBPC3):c.1351+1G>C	noncoding	Pathogenic
11	47343020	C	T	C47343020T	MYBPC3	NM_000256.3(MYBPC3):c.1351+1G>A	noncoding	Pathogenic/Likely_pathogenic
11	47343021	C	G	C47343021G	MYBPC3	NM_000256.3(MYBPC3):c.1351G>C:p.Glu451Gln	coding	Pathogenic
11	47343025	C	A	C47343025A	MYBPC3	NM_000256.3(MYBPC3):c.1347G>T:p.Val449=	coding	Benign/Likely_benign
11	47343069	G	A	G47343069A	MYBPC3	NM_000256.3(MYBPC3):c.1303C>T:p.Gln435Ter	coding	Pathogenic
11	47343070	G	A	G47343070A	MYBPC3	NM_000256.3(MYBPC3):c.1302C>T:p.Tyr434=	coding	Benign/Likely_benign
11	47343070	G	T	G47343070T	MYBPC3	NM_000256.3(MYBPC3):c.1302C>A:p.Tyr434Ter	coding	Pathogenic
11	47343090	A	G	A47343090G	MYBPC3	NM_000256.3(MYBPC3):c.1282T>C:p.Leu428=	coding	Benign/Likely_benign
11	47343099	G	A	G47343099A	MYBPC3	NM_000256.3(MYBPC3):c.1273C>T:p.Gln425Ter	coding	Pathogenic
11	47343120	T	A	T47343120A	MYBPC3	NM_000256.3(MYBPC3):c.1252A>T:p.Lys418Ter	coding	Pathogenic
11	47343146	C	G	C47343146G	MYBPC3	NM_000256.3(MYBPC3):c.1227-1G>C	coding	Pathogenic
11	47343147	T	C	T47343147C	MYBPC3	NM_000256.3(MYBPC3):c.1227-2A>G	coding	Pathogenic/Likely_pathogenic
11	47343264	T	C	T47343264C	MYBPC3	NM_000256.3(MYBPC3):c.1224-2A>G	noncoding	Pathogenic
11	47343314	C	T	C47343314T	MYBPC3	NM_000256.3(MYBPC3):c.1224-52G>A	noncoding	Pathogenic/Likely_pathogenic
11	47343342	C	T	C47343342T	MYBPC3	NM_000256.3(MYBPC3):c.1224-80G>A	noncoding	Pathogenic
11	47343463	C	T	C47343463T	MYBPC3	NM_000256.3(MYBPC3):c.1223+29G>A	noncoding	Benign
11	47343478	A	C	A47343478C	MYBPC3	NM_000256.3(MYBPC3):c.1223+14T>G	noncoding	Benign
11	47343490	A	C	A47343490C	MYBPC3	NM_000256.3(MYBPC3):c.1223+2T>G	noncoding	Pathogenic/Likely_pathogenic
11	47343491	C	T	C47343491T	MYBPC3	NM_000256.3(MYBPC3):c.1223+1G>A	noncoding	Pathogenic/Likely_pathogenic
11	47343505	G	A	G47343505A	MYBPC3	NM_000256.3(MYBPC3):c.1210C>T:p.Gln404Ter	coding	Pathogenic
11	47343514	G	A	G47343514A	MYBPC3	NM_000256.3(MYBPC3):c.1201C>T:p.Gln401Ter	coding	Pathogenic
11	47343527	C	T	C47343527T	MYBPC3	NM_000256.3(MYBPC3):c.1188G>A:p.Trp396Ter	coding	Pathogenic
11	47343532	T	A	T47343532A	MYBPC3	NM_000256.3(MYBPC3):c.1183A>T:p.Lys395Ter	coding	Pathogenic
11	47343559	C	A	C47343559A	MYBPC3	NM_000256.3(MYBPC3):c.1156G>T:p.Glu386Ter	coding	Pathogenic
11	47343571	G	A	G47343571A	MYBPC3	NM_000256.3(MYBPC3):c.1144C>T:p.Arg382Trp	coding	Benign/Likely_benign
11	47343595	G	A	G47343595A	MYBPC3	NM_000256.3(MYBPC3):c.1120C>T:p.Gln374Ter	coding	Pathogenic
11	47343596	G	C	G47343596C	MYBPC3	NM_000256.3(MYBPC3):c.1119C>G:p.Tyr373Ter	coding	Pathogenic
11	47343648	G	A	G47343648A	MYBPC3	NM_000256.3(MYBPC3):c.1091-24C>T	noncoding	Benign
11	47343655	C	T	C47343655T	MYBPC3	NM_000256.3(MYBPC3):c.1091-31G>A	noncoding	Benign
11	47343725	A	G	A47343725G	MYBPC3	NM_000256.3(MYBPC3):c.1091-101T>C	noncoding	Benign
11	47346205	A	C	A47346205C	MYBPC3	NM_000256.3(MYBPC3):c.1090+2T>G	noncoding	Pathogenic
11	47346206	C	A	C47346206A	MYBPC3	NM_000256.3(MYBPC3):c.1090+1G>T	noncoding	Pathogenic
11	47346206	C	T	C47346206T	MYBPC3	NM_000256.3(MYBPC3):c.1090+1G>A	noncoding	Pathogenic
11	47346207	C	T	C47346207T	MYBPC3	NM_000256.3(MYBPC3):c.1090G>A:p.Ala364Thr	coding	Pathogenic/Likely_pathogenic
11	47346222	C	A	C47346222A	MYBPC3	NM_000256.3(MYBPC3):c.1075G>T:p.Glu359Ter	coding	Pathogenic
11	47346282	G	A	G47346282A	MYBPC3	NM_000256.3(MYBPC3):c.1015C>T:p.Gln339Ter	coding	Pathogenic
11	47346297	C	A	C47346297A	MYBPC3	NM_000256.3(MYBPC3):c.1000G>T:p.Glu334Ter	coding	Pathogenic
11	47346298	G	C	G47346298C	MYBPC3	NM_000256.3(MYBPC3):c.999C>G:p.Tyr333Ter	coding	Pathogenic
11	47346298	G	T	G47346298T	MYBPC3	NM_000256.3(MYBPC3):c.999C>A:p.Tyr333Ter	coding	Pathogenic
11	47346318	G	A	G47346318A	MYBPC3	NM_000256.3(MYBPC3):c.979C>T:p.Gln327Ter	coding	Pathogenic
11	47346320	C	T	C47346320T	MYBPC3	NM_000256.3(MYBPC3):c.977G>A:p.Arg326Gln	coding	Benign/Likely_benign
11	47346331	C	T	C47346331T	MYBPC3	NM_000256.3(MYBPC3):c.966G>A:p.Trp322Ter	coding	Pathogenic
11	47346365	G	T	G47346365T	MYBPC3	NM_000256.3(MYBPC3):c.932C>A:p.Ser311Ter	coding	Pathogenic
11	47346372	T	C	T47346372C	MYBPC3	NM_000256.3(MYBPC3):c.927-2A>G	noncoding	Pathogenic
11	47346379	C	T	C47346379T	MYBPC3	NM_000256.3(MYBPC3):c.927-9G>A	noncoding	Pathogenic/Likely_pathogenic
11	47346644	G	A	G47346644A	MYBPC3	NM_000256.3(MYBPC3):c.909C>T:p.Asp303=	coding	Benign/Likely_benign
11	47346657	T	G	T47346657G	MYBPC3	NM_000256.3(MYBPC3):c.909-13A>C	noncoding	Benign
11	47346663	T	G	T47346663G	MYBPC3	NM_000256.3(MYBPC3):c.909-19A>C	noncoding	Benign
11	47346664	G	A	G47346664A	MYBPC3	NM_000256.3(MYBPC3):c.909-20C>T	noncoding	Benign
11	47347030	C	G	C47347030G	MYBPC3	NM_000256.3(MYBPC3):c.906-1G>C	noncoding	Pathogenic
11	47347030	C	T	C47347030T	MYBPC3	NM_000256.3(MYBPC3):c.906-1G>A	noncoding	Pathogenic
11	47347065	C	T	C47347065T	MYBPC3	NM_000256.3(MYBPC3):c.906-36G>A	noncoding	Pathogenic/Likely_pathogenic
11	47347430	T	A	T47347430A	MYBPC3	NM_000256.3(MYBPC3):c.901A>T:p.Lys301Ter	coding	Pathogenic
11	47347480	C	T	C47347480T	MYBPC3	NM_000256.3(MYBPC3):c.852-1G>A	coding	Pathogenic
11	47347481	T	C	T47347481C	MYBPC3	NM_000256.3(MYBPC3):c.852-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	47347499	G	T	G47347499T	MYBPC3	NM_000256.3(MYBPC3):c.852-20C>A	noncoding	Benign
11	47347669	C	T	C47347669T	MYBPC3	NM_000256.3(MYBPC3):c.833G>A:p.Gly278Glu	coding	Benign
11	47347855	A	G	A47347855G	MYBPC3	NM_000256.3(MYBPC3):c.821+2T>C	noncoding	Pathogenic
11	47347855	A	T	A47347855T	MYBPC3	NM_000256.3(MYBPC3):c.821+2T>A	noncoding	Pathogenic
11	47347856	C	A	C47347856A	MYBPC3	NM_000256.3(MYBPC3):c.821+1G>T	noncoding	Pathogenic
11	47347856	C	G	C47347856G	MYBPC3	NM_000256.3(MYBPC3):c.821+1G>C	noncoding	Pathogenic
11	47347856	C	T	C47347856T	MYBPC3	NM_000256.3(MYBPC3):c.821+1G>A	noncoding	Pathogenic
11	47347892	G	A	G47347892A	MYBPC3	NM_000256.3(MYBPC3):c.786C>T:p.Thr262=	coding	Benign
11	47348169	A	G	A47348169G	MYBPC3	NM_000256.3(MYBPC3):c.772+255T>C	noncoding	Benign
11	47348423	C	T	C47348423T	MYBPC3	NM_000256.3(MYBPC3):c.772+1G>A	noncoding	Pathogenic
11	47348424	C	T	C47348424T	MYBPC3	NM_000256.3(MYBPC3):c.772G>A:p.Glu258Lys	coding	Pathogenic/Likely_pathogenic
11	47348449	G	T	G47348449T	MYBPC3	NM_000256.3(MYBPC3):c.747C>A:p.Cys249Ter	coding	Pathogenic/Likely_pathogenic
11	47348485	G	C	G47348485C	MYBPC3	NM_000256.3(MYBPC3):c.711C>G:p.Tyr237Ter	coding	Pathogenic
11	47348485	G	T	G47348485T	MYBPC3	NM_000256.3(MYBPC3):c.711C>A:p.Tyr237Ter	coding	Pathogenic
11	47348486	T	G	T47348486G	MYBPC3	NM_000256.3(MYBPC3):c.710A>C:p.Tyr237Ser	coding	Pathogenic/Likely_pathogenic
11	47348490	T	C	T47348490C	MYBPC3	NM_000256.3(MYBPC3):c.706A>G:p.Ser236Gly	coding	Benign/Likely_benign
11	47348536	A	C	A47348536C	MYBPC3	NM_000256.3(MYBPC3):c.660T>G:p.Tyr220Ter	coding	Pathogenic
11	47348541	C	A	C47348541A	MYBPC3	NM_000256.3(MYBPC3):c.655G>T:p.Val219Phe	coding	Pathogenic
11	47348541	C	G	C47348541G	MYBPC3	NM_000256.3(MYBPC3):c.655G>C:p.Val219Leu	coding	Pathogenic/Likely_pathogenic
11	47348542	C	T	C47348542T	MYBPC3	NM_000256.3(MYBPC3):c.655-1G>A	coding	Pathogenic
11	47348543	T	G	T47348543G	MYBPC3	NM_000256.3(MYBPC3):c.655-2A>C	noncoding	Pathogenic
11	47348559	C	T	C47348559T	MYBPC3	NM_000256.3(MYBPC3):c.655-18G>A	noncoding	Benign
11	47349481	A	C	A47349481C	MYBPC3	NM_000256.3(MYBPC3):c.654+293T>G	noncoding	Benign
11	47349773	C	T	C47349773T	MYBPC3	NM_000256.3(MYBPC3):c.654+1G>A	noncoding	Pathogenic
11	47349815	G	A	G47349815A	MYBPC3	NM_000256.3(MYBPC3):c.613C>T:p.Gln205Ter	coding	Pathogenic
11	47349841	C	T	C47349841T	MYBPC3	NM_000256.3(MYBPC3):c.587G>A:p.Trp196Ter	coding	Pathogenic
11	47349863	C	T	C47349863T	MYBPC3	NM_000256.3(MYBPC3):c.565G>A:p.Val189Ile	coding	Benign/Likely_benign
11	47349870	C	A	C47349870A	MYBPC3	NM_000256.3(MYBPC3):c.558G>T:p.Pro186=	coding	Benign/Likely_benign
11	47349875	T	A	T47349875A	MYBPC3	NM_000256.3(MYBPC3):c.553A>T:p.Lys185Ter	coding	Pathogenic
11	47349891	G	A	G47349891A	MYBPC3	NM_000256.3(MYBPC3):c.537C>T:p.Ala179=	coding	Benign
11	47349898	C	G	C47349898G	MYBPC3	NM_000256.3(MYBPC3):c.530G>C:p.Arg177Pro	coding	Benign
11	47349898	C	T	C47349898T	MYBPC3	NM_000256.3(MYBPC3):c.530G>A:p.Arg177His	coding	Benign/Likely_benign
11	47349923	C	A	C47349923A	MYBPC3	NM_000256.3(MYBPC3):c.506-1G>T	coding	Pathogenic
11	47349923	C	T	C47349923T	MYBPC3	NM_000256.3(MYBPC3):c.506-1G>A	coding	Pathogenic
11	47349924	T	G	T47349924G	MYBPC3	NM_000256.3(MYBPC3):c.506-2A>C	noncoding	Pathogenic
11	47349939	G	A	G47349939A	MYBPC3	NM_000256.3(MYBPC3):c.506-17C>T	noncoding	Benign
11	47350013	C	T	C47350013T	MYBPC3	NM_000256.3(MYBPC3):c.505+1G>A	noncoding	Pathogenic/Likely_pathogenic
11	47350027	G	A	G47350027A	MYBPC3	NM_000256.3(MYBPC3):c.492C>T:p.Gly164=	coding	Benign/Likely_benign
11	47350035	G	A	G47350035A	MYBPC3	NM_000256.3(MYBPC3):c.484C>T:p.Gln162Ter	coding	Pathogenic
11	47350038	G	A	G47350038A	MYBPC3	NM_000256.3(MYBPC3):c.481C>T:p.Pro161Ser	coding	Pathogenic
11	47350047	C	T	C47350047T	MYBPC3	NM_000256.3(MYBPC3):c.472G>A:p.Val158Met	coding	Benign
11	47350069	G	A	G47350069A	MYBPC3	NM_000256.3(MYBPC3):c.450C>T:p.Pro150=	coding	Benign/Likely_benign
11	47350079	G	A	G47350079A	MYBPC3	NM_000256.3(MYBPC3):c.440C>T:p.Pro147Leu	coding	Benign/Likely_benign
11	47350103	G	C	G47350103C	MYBPC3	NM_000256.3(MYBPC3):c.416C>G:p.Ser139Ter	coding	Pathogenic
11	47350109	G	C	G47350109C	MYBPC3	NM_000256.3(MYBPC3):c.410C>G:p.Ser137Ter	coding	Pathogenic
11	47350826	G	C	G47350826C	MYBPC3	NM_000256.3(MYBPC3):c.293-211C>G	noncoding	Benign
11	47351198	C	G	C47351198G	MYBPC3	NM_000256.3(MYBPC3):c.292+41G>C	noncoding	Benign
11	47351239	C	A	C47351239A	MYBPC3	NM_000256.3(MYBPC3):c.292G>T:p.Glu98Ter	coding	Pathogenic
11	47351294	G	C	G47351294C	MYBPC3	NM_000256.3(MYBPC3):c.237C>G:p.Tyr79Ter	coding	Pathogenic
11	47351294	G	T	G47351294T	MYBPC3	NM_000256.3(MYBPC3):c.237C>A:p.Tyr79Ter	coding	Pathogenic
11	47351356	T	C	T47351356C	MYBPC3	NM_000256.3(MYBPC3):c.175A>G:p.Thr59Ala	coding	Pathogenic
11	47351438	G	A	G47351438A	MYBPC3	NM_000256.3(MYBPC3):c.93C>T:p.Ala31=	coding	Benign/Likely_benign
11	47351449	C	T	C47351449T	MYBPC3	NM_000256.3(MYBPC3):c.82G>A:p.Val28Met	coding	Benign/Likely_benign
11	47351507	T	C	T47351507C	MYBPC3	NM_000256.3(MYBPC3):c.26-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	47352622	C	T	C47352622T	MYBPC3	NM_000256.3(MYBPC3):c.25+1G>A	noncoding	Pathogenic
11	47352636	C	T	C47352636T	MYBPC3	NM_000256.3(MYBPC3):c.12G>A:p.Pro4=	coding	Benign/Likely_benign
11	47353038	G	A	G47353038A	MYBPC3	NM_000256.3(MYBPC3):c.-391C>T	noncoding	Benign
11	47355318	A	C	A47355318C	SPI1	NM_003120.3(SPI1):c.722T>G:p.Val241Gly	coding	Pathogenic
11	47355408	T	G	T47355408G	SPI1	NM_003120.3(SPI1):c.632A>C:p.His211Pro	coding	Pathogenic
11	47358974	G	C	G47358974C	SPI1	NM_003120.3(SPI1):c.363C>G:p.Tyr121Ter	coding	Pathogenic
11	47410152	A	G	A47410152G	SLC39A13	NM_001128225.3(SLC39A13):c.58A>G:p.Thr20Ala	coding	Benign
11	47410177	A	G	A47410177G	SLC39A13	NM_001128225.3(SLC39A13):c.83A>G:p.Glu28Gly	coding	Benign
11	47410213	G	A	G47410213A	SLC39A13	NM_001128225.3(SLC39A13):c.119G>A:p.Arg40Gln	coding	Benign
11	47410310	C	T	C47410310T	SLC39A13	NM_001128225.3(SLC39A13):c.216C>T:p.Leu72=	coding	Benign/Likely_benign
11	47410315	G	A	G47410315A	SLC39A13	NM_001128225.3(SLC39A13):c.221G>A:p.Gly74Asp	coding	Pathogenic
11	47410410	G	A	G47410410A	SLC39A13	NM_001128225.3(SLC39A13):c.301+15G>A	noncoding	Benign
11	47410415	C	T	C47410415T	SLC39A13	NM_001128225.3(SLC39A13):c.301+20C>T	noncoding	Benign
11	47413401	C	G	C47413401G	SLC39A13	NM_001128225.3(SLC39A13):c.539C>G:p.Ala180Gly	coding	Benign/Likely_benign
11	47413435	G	A	G47413435A	SLC39A13	NM_001128225.3(SLC39A13):c.573G>A:p.Ala191=	coding	Benign
11	47415321	G	A	G47415321A	SLC39A13	NM_001128225.3(SLC39A13):c.1074G>A:p.Ala358=	coding	Benign
11	47419927	T	C	T47419927C	PSMC3	NM_002804.4(PSMC3):c.1127+337A>G	noncoding	Pathogenic
11	47437768	G	T	G47437768T	RAPSN	NM_005055.5(RAPSN):c.*207C>A	noncoding	Benign
11	47437918	G	A	G47437918A	RAPSN	NM_005055.5(RAPSN):c.*57C>T	noncoding	Benign
11	47438547	C	T	C47438547T	RAPSN	NM_005055.5(RAPSN):c.1166+185G>A	noncoding	Benign
11	47438752	G	T	G47438752T	RAPSN	NM_005055.5(RAPSN):c.1146C>A:p.Cys382Ter	coding	Pathogenic
11	47438755	A	G	A47438755G	RAPSN	NM_005055.5(RAPSN):c.1143T>C:p.Pro381=	coding	Benign
11	47438833	G	T	G47438833T	RAPSN	NM_005055.5(RAPSN):c.1065C>A:p.Cys355Ter	coding	Pathogenic
11	47438901	C	A	C47438901A	RAPSN	NM_005055.5(RAPSN):c.997G>T:p.Glu333Ter	coding	Pathogenic
11	47441165	C	T	C47441165T	RAPSN	NM_005055.5(RAPSN):c.960G>A:p.Gly320=	coding	Benign/Likely_benign
11	47441668	C	T	C47441668T	RAPSN	NM_005055.5(RAPSN):c.855G>A:p.Gln285=	coding	Benign
11	47441670	G	A	G47441670A	RAPSN	NM_005055.5(RAPSN):c.853C>T:p.Gln285Ter	coding	Pathogenic
11	47441675	A	G	A47441675G	RAPSN	NM_005055.5(RAPSN):c.848T>C:p.Leu283Pro	coding	Pathogenic/Likely_pathogenic
11	47441716	G	T	G47441716T	RAPSN	NM_005055.5(RAPSN):c.807C>A:p.Tyr269Ter	coding	Pathogenic
11	47442732	C	T	C47442732T	RAPSN	NM_005055.5(RAPSN):c.614G>A:p.Arg205Gln	coding	Benign
11	47442780	G	A	G47442780A	RAPSN	NM_005055.5(RAPSN):c.566C>T:p.Ala189Val	coding	Pathogenic
11	47447850	C	T	C47447850T	RAPSN	NM_005055.5(RAPSN):c.493G>A:p.Val165Met	coding	Pathogenic
11	47447853	G	A	G47447853A	RAPSN	NM_005055.5(RAPSN):c.490C>T:p.Arg164Cys	coding	Pathogenic/Likely_pathogenic
11	47447859	C	T	C47447859T	RAPSN	NM_005055.5(RAPSN):c.484G>A:p.Glu162Lys	coding	Pathogenic
11	47447887	A	G	A47447887G	RAPSN	NM_005055.5(RAPSN):c.456T>C:p.Tyr152=	coding	Benign
11	47447927	A	G	A47447927G	RAPSN	NM_005055.5(RAPSN):c.416T>C:p.Phe139Ser	coding	Pathogenic
11	47447973	G	A	G47447973A	RAPSN	NM_005055.5(RAPSN):c.370C>T:p.Gln124Ter	coding	Pathogenic
11	47447980	G	A	G47447980A	RAPSN	NM_005055.5(RAPSN):c.363C>T:p.Leu121=	coding	Benign/Likely_benign
11	47447985	G	A	G47447985A	RAPSN	NM_005055.5(RAPSN):c.358C>T:p.Gln120Ter	coding	Pathogenic
11	47448102	A	G	A47448102G	RAPSN	NM_005055.5(RAPSN):c.241T>C:p.Phe81Leu	coding	Benign
11	47448152	T	G	T47448152G	RAPSN	NM_005055.5(RAPSN):c.193-2A>C	noncoding	Pathogenic
11	47448164	C	T	C47448164T	RAPSN	NM_005055.5(RAPSN):c.193-14G>A	noncoding	Benign/Likely_benign
11	47448165	G	A	G47448165A	RAPSN	NM_005055.5(RAPSN):c.193-15C>T	noncoding	Benign
11	47448165	G	T	G47448165T	RAPSN	NM_005055.5(RAPSN):c.193-15C>A	noncoding	Pathogenic
11	47448793	G	A	G47448793A	RAPSN	NM_005055.5(RAPSN):c.172C>T:p.Arg58Cys	coding	Benign
11	47448904	G	A	G47448904A	RAPSN	NM_005055.5(RAPSN):c.61C>T:p.Gln21Ter	coding	Pathogenic
11	47448924	A	G	A47448924G	RAPSN	NM_005055.5(RAPSN):c.41T>C:p.Leu14Pro	coding	Pathogenic
11	47449174	T	C	T47449174C	RAPSN	NG_008312.1(RAPSN):g.5005A>G	noncoding	Pathogenic
11	47449310	A	C	A47449310C	RAPSN	NC_000011.10:g.47449310A>C	noncoding	Benign
11	47472254	C	T	C47472254T	CELF1	NM_001172639.2(CELF1):c.1515G>A:p.Ser505=	coding	Benign
11	47571628	G	C	G47571628C	PTPMT1	NM_175732.3(PTPMT1):c.605G>C:p.Ter202Ser	coding	Benign
11	47578800	A	G	A47578800G	NDUFS3	NM_018095.6(KBTBD4):c.19+133T>C	noncoding	Benign
11	47579093	T	G	T47579093G	NDUFS3	NM_004551.3(NDUFS3):c.2T>G:p.Met1Arg	coding	Pathogenic
11	47581177	C	T	C47581177T	NDUFS3	NM_004551.3(NDUFS3):c.381+193C>T	noncoding	Benign
11	47660176	C	T	C47660176T	AGBL2	NM_024783.4(AGBL2):c.2706G>A:p.Pro902=	coding	Benign
11	47660326	T	C	T47660326C	AGBL2	NM_024783.4(AGBL2):c.2556A>G:p.Thr852=	coding	Benign
11	47699456	T	C	T47699456C	AGBL2	NM_024783.4(AGBL2):c.684A>G:p.Gln228=	coding	Benign
11	47704602	A	C	A47704602C	AGBL2	NM_024783.4(AGBL2):c.527T>G:p.Leu176Arg	coding	Benign
11	47724112	T	C	T47724112C	FNBP4	NM_015308.5(FNBP4):c.2380A>G:p.Thr794Ala	coding	Benign
11	47724144	G	C	G47724144C	FNBP4	NM_015308.5(FNBP4):c.2348C>G:p.Ser783Cys	coding	Benign
11	47724472	C	A	C47724472A	FNBP4	NM_015308.5(FNBP4):c.2315G>T:p.Ser772Ile	coding	Benign
11	47746221	T	C	T47746221C	FNBP4	NM_015308.5(FNBP4):c.1080A>G:p.Thr360=	coding	Benign
11	47750906	C	T	C47750906T	FNBP4	NM_015308.5(FNBP4):c.906+10G>A	noncoding	Benign
11	47750993	T	C	T47750993C	FNBP4	NM_015308.5(FNBP4):c.829A>G:p.Ile277Val	coding	Benign
11	47751159	G	C	G47751159C	FNBP4	NM_015308.5(FNBP4):c.769C>G:p.Gln257Glu	coding	Benign
11	47754604	T	C	T47754604C	FNBP4	NM_015308.5(FNBP4):c.374A>G:p.Glu125Gly	coding	Benign
11	47767211	C	A	C47767211A	FNBP4	NM_015308.5(FNBP4):c.78G>T:p.Thr26=	coding	Benign
11	47767256	A	G	A47767256G	FNBP4	NM_015308.5(FNBP4):c.33T>C:p.Arg11=	coding	Benign
11	47779171	T	C	T47779171C	NUP160	NM_015231.2(NUP160):c.4245A>G:p.Lys1415=	coding	Benign
11	47780406	G	A	G47780406A	NUP160	NM_015231.2(NUP160):c.4158C>T:p.Tyr1386=	coding	Benign
11	47812399	T	C	T47812399C	NUP160	NM_015231.2(NUP160):c.1983A>G:p.Lys661=	coding	Benign
11	48121225	A	G	A48121225G	PTPRJ	NM_002843.4(PTPRJ):c.575A>G:p.Asn192Ser	coding	Benign
11	48123636	C	T	C48123636T	PTPRJ	NM_002843.4(PTPRJ):c.640C>T:p.Arg214Cys	coding	Pathogenic
11	48124970	G	A	G48124970A	PTPRJ	NM_002843.4(PTPRJ):c.877G>A:p.Ala293Thr	coding	Benign
11	48128038	A	G	A48128038G	PTPRJ	NM_002843.4(PTPRJ):c.1352A>G:p.His451Arg	coding	Benign
11	48137034	T	A	T48137034A	PTPRJ	NM_002843.4(PTPRJ):c.1905T>A:p.Ser635Arg	coding	Benign
11	48149984	A	G	A48149984G	PTPRJ	NM_002843.4(PTPRJ):c.3042-6A>G	noncoding	Benign
11	48163603	T	C	T48163603C	PTPRJ	NM_002843.4(PTPRJ):c.3704T>C:p.Ile1235Thr	coding	Benign
11	48167356	C	A	C48167356A	PTPRJ	NM_002843.4(PTPRJ):c.4008C>A:p.Ile1336=	coding	Benign
11	48306242	T	C	T48306242C	OR4S1	NM_001004725.1(OR4S1):c.20T>C:p.Val7Ala	coding	Benign
11	48306282	G	T	G48306282T	OR4S1	NM_001004725.1(OR4S1):c.60G>T:p.Glu20Asp	coding	Benign
11	48306546	T	C	T48306546C	OR4S1	NM_001004725.1(OR4S1):c.324T>C:p.Thr108=	coding	Benign
11	49186767	G	A	G49186767A	FOLH1	NM_004476.3(FOLH1):c.516C>T:p.Gly172=	coding	Benign
11	49192828	G	C	G49192828C	FOLH1	NM_004476.3(FOLH1):c.478C>G:p.Pro160Ala	coding	Benign
11	49192842	G	A	G49192842A	FOLH1	NM_004476.3(FOLH1):c.464C>T:p.Ser155Leu	coding	Benign
11	54603136	T	C	T54603136C	OR4C46	NM_001004703.1(OR4C46):c.863A>G:p.Lys288Arg	coding	Benign
11	54603640	T	C	T54603640C	OR4C46	NM_001004703.1(OR4C46):c.359A>G:p.His120Arg	coding	Benign
11	55665454	C	G	C55665454G	OR4C6	NM_001004704.1(OR4C6):c.288C>G:p.Leu96=	coding	Benign
11	55665626	G	A	G55665626A	OR4C6	NM_001004704.1(OR4C6):c.460G>A:p.Ala154Thr	coding	Benign
11	56664617	A	T	A56664617T	OR5AR1	NM_001004730.1(OR5AR1):c.932A>T:p.Ter311Leu	coding	Benign
11	56673649	T	C	T56673649C	-	NC_000011.10:g.56673649T>C	noncoding	Benign
11	56697829	T	A	T56697829A	-	NC_000011.10:g.56697829T>A	noncoding	Benign
11	56698623	C	T	C56698623T	-	NC_000011.10:g.56698623C>T	noncoding	Benign
11	57236107	C	T	C57236107T	APLNR	NM_005161.4(APLNR):c.898G>A:p.Val300Ile	coding	Benign
11	57308910	C	T	C57308910T	TNKS1BP1	NM_033396.3(TNKS1BP1):c.3801G>A:p.Glu1267=	coding	Benign
11	57313464	C	A	C57313464A	TNKS1BP1	NM_033396.3(TNKS1BP1):c.1224G>T:p.Gly408=	coding	Benign
11	57326467	T	C	T57326467C	SSRP1	NM_003146.3(SSRP1):c.2070A>G:p.Glu690=	coding	Benign
11	57332998	G	A	G57332998A	SSRP1	NM_003146.3(SSRP1):c.498C>T:p.Tyr166=	coding	Benign
11	57333526	G	C	G57333526C	SSRP1	NM_003146.3(SSRP1):c.255C>G:p.Leu85=	coding	Benign
11	57348212	G	A	G57348212A	P2RX3	NM_002559.5(P2RX3):c.434G>A:p.Arg145Gln	coding	Benign
11	57369351	C	A	C57369351A	P2RX3	NM_002559.5(P2RX3):c.1003-10C>A	noncoding	Benign
11	57389208	T	C	T57389208C	PRG2	NM_002728.6(PRG2):c.168A>G:p.Glu56=	coding	Benign
11	57423979	C	A	C57423979A	SLC43A3	NM_199329.3(SLC43A3):c.361+3G>T	noncoding	Benign
11	57491258	C	T	C57491258T	SLC43A1	NM_003627.6(SLC43A1):c.1159G>A:p.Ala387Thr	coding	Benign
11	57497768	C	T	C57497768T	SLC43A1	NM_003627.6(SLC43A1):c.543G>A:p.Thr181=	coding	Benign
11	57501020	G	A	G57501020A	SLC43A1	NM_003627.6(SLC43A1):c.356C>T:p.Thr119Ile	coding	Benign
11	57513994	G	T	G57513994T	SLC43A1	NM_003627.6(SLC43A1):c.118C>A:p.Leu40Met	coding	Benign
11	57597721	G	C	G57597721C	SERPING1	NM_000062.2(SERPING1):c.-24G>C	noncoding	Benign
11	57598094	G	T	G57598094T	SERPING1	NM_000062.3(SERPING1):c.-22-155G>T	noncoding	Pathogenic
11	57598250	T	C	T57598250C	SERPING1	NM_000062.2(SERPING1):c.-21T>C	noncoding	Benign
11	57598271	A	C	A57598271C	SERPING1	NM_000062.2(SERPING1):c.1A>C:p.Met1Leu	coding	Pathogenic
11	57598271	A	G	A57598271G	SERPING1	NM_000062.2(SERPING1):c.1A>G:p.Met1Val	coding	Pathogenic
11	57598321	G	C	G57598321C	SERPING1	NM_000062.2(SERPING1):c.51G>C:p.Gly17=	coding	Benign
11	57598422	G	A	G57598422A	SERPING1	NM_000062.3(SERPING1):c.51+101G>A	noncoding	Benign
11	57599183	C	T	C57599183T	SERPING1	NM_000062.3(SERPING1):c.52-696C>T	noncoding	Benign
11	57599749	C	T	C57599749T	SERPING1	NM_000062.3(SERPING1):c.52-130C>T	noncoding	Benign
11	57599878	G	A	G57599878A	SERPING1	NM_000062.2(SERPING1):c.52-1G>A	noncoding	Pathogenic
11	57599882	A	T	A57599882T	SERPING1	NM_000062.2(SERPING1):c.55A>T:p.Arg19Ter	coding	Pathogenic
11	57599951	G	T	G57599951T	SERPING1	NM_000062.3(SERPING1):c.124G>T:p.Glu42Ter	coding	Pathogenic
11	57599956	G	A	G57599956A	SERPING1	NM_000062.3(SERPING1):c.129G>A:p.Gly43=	coding	Benign
11	57599969	A	G	A57599969G	SERPING1	NM_000062.3(SERPING1):c.142A>G:p.Thr48Ala	coding	Benign
11	57599994	T	C	T57599994C	SERPING1	NM_000062.2(SERPING1):c.167T>C:p.Val56Ala	coding	Benign
11	57600179	A	G	A57600179G	SERPING1	NM_000062.2(SERPING1):c.352A>G:p.Thr118Ala	coding	Benign
11	57600278	C	T	C57600278T	SERPING1	NM_000062.3(SERPING1):c.451C>T:p.Leu151=	coding	Benign
11	57600292	C	T	C57600292T	SERPING1	NM_000062.2(SERPING1):c.465C>T:p.His155=	coding	Benign/Likely_benign
11	57600295	C	T	C57600295T	SERPING1	NM_000062.2(SERPING1):c.468C>T:p.Ala156=	coding	Benign
11	57600377	G	A	G57600377A	SERPING1	NM_000062.2(SERPING1):c.550G>A:p.Gly184Arg	coding	Pathogenic/Likely_pathogenic
11	57601535	C	G	C57601535G	SERPING1	NM_000062.3(SERPING1):c.551-500C>G	noncoding	Benign
11	57601540	A	C	A57601540C	SERPING1	NM_000062.3(SERPING1):c.551-495A>C	noncoding	Benign
11	57602081	C	G	C57602081G	SERPING1	NM_000062.2(SERPING1):c.597C>G:p.Tyr199Ter	coding	Pathogenic
11	57602257	G	A	G57602257A	SERPING1	NM_000062.2(SERPING1):c.685+88G>A	noncoding	Benign
11	57604438	G	T	G57604438T	SERPING1	NM_000062.3(SERPING1):c.686-1572G>T	noncoding	Benign
11	57604445	G	A	G57604445A	SERPING1	NM_000062.3(SERPING1):c.686-1565G>A	noncoding	Benign
11	57605053	A	G	A57605053G	SERPING1	NM_000062.3(SERPING1):c.686-957A>G	noncoding	Benign
11	57606001	T	C	T57606001C	SERPING1	NM_000062.2(SERPING1):c.686-9T>C	noncoding	Benign
11	57606009	G	A	G57606009A	SERPING1	NM_000062.3(SERPING1):c.686-1G>A	noncoding	Pathogenic
11	57606075	C	T	C57606075T	SERPING1	NM_000062.2(SERPING1):c.751C>T:p.Leu251=	coding	Benign
11	57606173	C	T	C57606173T	SERPING1	NM_000062.2(SERPING1):c.849C>T:p.Ser283=	coding	Benign/Likely_benign
11	57606426	T	C	T57606426C	SERPING1	NM_000062.3(SERPING1):c.908T>C:p.Phe303Ser	coding	Pathogenic
11	57606471	C	G	C57606471G	SERPING1	NM_000062.2(SERPING1):c.953C>G:p.Ser318Ter	coding	Pathogenic
11	57606503	A	T	A57606503T	SERPING1	NM_000062.3(SERPING1):c.985A>T:p.Lys329Ter	coding	Pathogenic
11	57606530	C	T	C57606530T	SERPING1	NM_000062.2(SERPING1):c.1012C>T:p.Gln338Ter	coding	Pathogenic
11	57606552	G	T	G57606552T	SERPING1	NM_000062.3(SERPING1):c.1029+5G>T	noncoding	Benign
11	57606807	G	A	G57606807A	SERPING1	NM_000062.3(SERPING1):c.1029+260G>A	noncoding	Benign
11	57606859	T	C	T57606859C	SERPING1	NM_000062.3(SERPING1):c.1029+312T>C	noncoding	Benign
11	57606931	A	G	A57606931G	SERPING1	NM_000062.3(SERPING1):c.1029+384A>G	noncoding	Pathogenic
11	57607398	C	G	C57607398G	SERPING1	NM_000062.3(SERPING1):c.1029+851C>G	noncoding	Benign
11	57607473	G	T	G57607473T	SERPING1	NM_000062.3(SERPING1):c.1029+926G>T	noncoding	Benign
11	57607990	G	C	G57607990C	SERPING1	NM_000062.3(SERPING1):c.1029+1443G>C	noncoding	Benign
11	57608044	A	G	A57608044G	SERPING1	NM_000062.3(SERPING1):c.1029+1497A>G	noncoding	Benign
11	57609742	G	C	G57609742C	SERPING1	NM_000062.3(SERPING1):c.1030-1975G>C	noncoding	Benign
11	57610495	A	G	A57610495G	SERPING1	NM_000062.3(SERPING1):c.1030-1222A>G	noncoding	Benign
11	57610519	G	T	G57610519T	SERPING1	NM_000062.3(SERPING1):c.1030-1198G>T	noncoding	Benign
11	57610852	C	T	C57610852T	SERPING1	NM_000062.3(SERPING1):c.1030-865C>T	noncoding	Benign
11	57611697	A	G	A57611697G	SERPING1	NM_000062.2(SERPING1):c.1030-20A>G	noncoding	Benign
11	57611723	C	T	C57611723T	SERPING1	NM_000062.3(SERPING1):c.1036C>T:p.Gln346Ter	coding	Pathogenic
11	57611885	C	T	C57611885T	SERPING1	NM_000062.2(SERPING1):c.1198C>T:p.Arg400Cys	coding	Pathogenic
11	57611905	C	T	C57611905T	SERPING1	NM_000062.2(SERPING1):c.1218C>T:p.Ser406=	coding	Benign
11	57611934	T	A	T57611934A	SERPING1	NM_000062.2(SERPING1):c.1247T>A:p.Leu416Ter	coding	Pathogenic
11	57611937	G	T	G57611937T	SERPING1	NM_000062.2(SERPING1):c.1249+1G>T	coding	Pathogenic
11	57613790	T	C	T57613790C	SERPING1	NM_000062.3(SERPING1):c.1250-538T>C	noncoding	Benign
11	57614046	T	C	T57614046C	SERPING1	NM_000062.3(SERPING1):c.1250-282T>C	noncoding	Benign
11	57614174	C	G	C57614174G	SERPING1	NM_000062.3(SERPING1):c.1250-154C>G	noncoding	Benign
11	57614439	T	A	T57614439A	SERPING1	NM_000062.2(SERPING1):c.1361T>A:p.Val454Glu	coding	Pathogenic
11	57614450	G	A	G57614450A	SERPING1	NM_000062.2(SERPING1):c.1372G>A:p.Ala458Thr	coding	Pathogenic
11	57614451	C	T	C57614451T	SERPING1	NM_000062.3(SERPING1):c.1373C>T:p.Ala458Val	coding	Pathogenic
11	57614463	T	G	T57614463G	SERPING1	NM_000062.2(SERPING1):c.1385T>G:p.Ile462Ser	coding	Pathogenic
11	57614472	C	T	C57614472T	SERPING1	NM_000062.2(SERPING1):c.1394C>T:p.Ala465Val	coding	Pathogenic
11	57614474	C	A	C57614474A	SERPING1	NM_000062.2(SERPING1):c.1396C>A:p.Arg466Ser	coding	Pathogenic
11	57614474	C	T	C57614474T	SERPING1	NM_000062.2(SERPING1):c.1396C>T:p.Arg466Cys	coding	Pathogenic
11	57614475	G	A	G57614475A	SERPING1	NM_000062.2(SERPING1):c.1397G>A:p.Arg466His	coding	Pathogenic
11	57614475	G	C	G57614475C	SERPING1	NM_000062.2(SERPING1):c.1397G>C:p.Arg466Pro	coding	Pathogenic
11	57614495	G	A	G57614495A	SERPING1	NM_000062.3(SERPING1):c.1417G>A:p.Val473Met	coding	Pathogenic
11	57614498	C	T	C57614498T	SERPING1	NM_000062.2(SERPING1):c.1420C>T:p.Gln474Ter	coding	Pathogenic
11	57614516	G	A	G57614516A	SERPING1	NM_000062.3(SERPING1):c.1438G>A:p.Val480Met	coding	Benign
11	57614524	G	A	G57614524A	SERPING1	NM_000062.3(SERPING1):c.1446G>A:p.Trp482Ter	coding	Pathogenic
11	57614558	C	T	C57614558T	SERPING1	NM_000062.2(SERPING1):c.1480C>T:p.Arg494Ter	coding	Pathogenic
11	57659602	A	G	A57659602G	CLP1	NM_006831.3(CLP1):c.126A>G:p.Ala42=	coding	Benign
11	57659827	G	A	G57659827A	CLP1	NM_006831.3(CLP1):c.351G>A:p.Val117=	coding	Benign
11	57659895	G	A	G57659895A	CLP1	NM_006831.3(CLP1):c.419G>A:p.Arg140His	coding	Pathogenic/Likely_pathogenic
11	57660483	T	C	T57660483C	CLP1	NM_006831.3(CLP1):c.607-282T>C	noncoding	Benign
11	57660808	T	C	T57660808C	CLP1	NM_006831.3(CLP1):c.650T>C:p.Val217Ala	coding	Benign/Likely_benign
11	57660956	G	A	G57660956A	CLP1	NM_006831.3(CLP1):c.798G>A:p.Leu266=	coding	Benign
11	57661109	C	T	C57661109T	CLP1	NM_006831.3(CLP1):c.951C>T:p.Phe317=	coding	Benign
11	57712732	C	T	C57712732T	TMX2	NM_015959.4(TMX2):c.114C>T:p.Leu38=	coding	Benign
11	57712775	C	T	C57712775T	TMX2	NM_015959.4(TMX2):c.157C>T:p.Arg53Cys	coding	Pathogenic
11	57712782	A	C	A57712782C	TMX2	NM_015959.4(TMX2):c.164A>C:p.Asp55Ala	coding	Pathogenic
11	57712784	G	C	G57712784C	TMX2	NM_015959.4(TMX2):c.166G>C:p.Gly56Arg	coding	Pathogenic
11	57739039	G	A	G57739039A	TMX2	NM_015959.4(TMX2):c.614G>A:p.Arg205Gln	coding	Pathogenic
11	57740111	C	T	C57740111T	TMX2	NM_015959.4(TMX2):c.757C>T:p.Arg253Ter	coding	Pathogenic
11	57796774	A	G	A57796774G	CTNND1	NM_001085458.2(CTNND1):c.738A>G:p.Glu246=	coding	Benign
11	57801783	G	A	G57801783A	CTNND1	NM_001085458.2(CTNND1):c.1007G>A:p.Trp336Ter	coding	Pathogenic
11	57801864	G	A	G57801864A	CTNND1	NM_001085458.2(CTNND1):c.1088G>A:p.Trp363Ter	coding	Pathogenic
11	57801869	C	T	C57801869T	CTNND1	NM_001085458.2(CTNND1):c.1093C>T:p.Gln365Ter	coding	Pathogenic
11	57802166	C	T	C57802166T	CTNND1	NM_001085458.2(CTNND1):c.1390C>T:p.Arg464Cys	coding	Benign
11	57808396	C	T	C57808396T	CTNND1	NM_001085458.2(CTNND1):c.2098C>T:p.Arg700Ter	coding	Pathogenic
11	57809467	G	T	G57809467T	CTNND1	NM_001085458.2(CTNND1):c.2435+1G>T	coding	Pathogenic
11	57811420	C	T	C57811420T	CTNND1	NM_001085458.2(CTNND1):c.2572C>T:p.Arg858Ter	coding	Pathogenic/Likely_pathogenic
11	57814314	A	C	A57814314C	CTNND1	NM_001085458.2(CTNND1):c.2642A>C:p.Lys881Thr	coding	Benign
11	57815401	C	T	C57815401T	CTNND1	NM_001085458.2(CTNND1):c.2709C>T:p.Asn903=	coding	Benign
11	57815452	G	A	G57815452A	CTNND1	NM_001085458.2(CTNND1):c.2760G>A:p.Ser920=	coding	Benign
11	58624028	G	A	G58624028A	CNTF	NM_000614.4(CNTF):c.115-6G>A	noncoding	Benign
11	58624065	A	G	A58624065G	CNTF	NM_000614.4(CNTF):c.146A>G:p.Asn49Ser	coding	Benign
11	59125386	A	C	A59125386C	FAM111B	NM_198947.4(FAM111B):c.1289A>C:p.Gln430Pro	coding	Pathogenic
11	59125971	C	A	C59125971A	FAM111B	NM_198947.4(FAM111B):c.1874C>A:p.Thr625Asn	coding	Pathogenic
11	59125976	A	G	A59125976G	FAM111B	NM_198947.4(FAM111B):c.1879A>G:p.Arg627Gly	coding	Pathogenic
11	59125980	G	A	G59125980A	FAM111B	NM_198947.4(FAM111B):c.1883G>A:p.Ser628Asn	coding	Pathogenic
11	59151775	G	A	G59151775A	FAM111A	NM_001142519.3(FAM111A):c.107G>A:p.Cys36Tyr	coding	Benign
11	59151959	A	G	A59151959G	FAM111A	NM_001142519.3(FAM111A):c.291A>G:p.Thr97=	coding	Benign
11	59151977	C	T	C59151977T	FAM111A	NM_001142519.3(FAM111A):c.309C>T:p.Ser103=	coding	Benign
11	59151978	T	A	T59151978A	FAM111A	NM_001142519.3(FAM111A):c.310T>A:p.Leu104Ile	coding	Benign/Likely_benign
11	59152175	C	T	C59152175T	FAM111A	NM_001142519.3(FAM111A):c.507C>T:p.His169=	coding	Benign
11	59152248	T	A	T59152248A	FAM111A	NM_001142519.3(FAM111A):c.580T>A:p.Cys194Ser	coding	Benign
11	59152406	T	C	T59152406C	FAM111A	NM_001142519.3(FAM111A):c.738T>C:p.Asn246=	coding	Benign
11	59152496	A	G	A59152496G	FAM111A	NM_001142519.3(FAM111A):c.828A>G:p.Ala276=	coding	Benign
11	59152680	A	G	A59152680G	FAM111A	NM_001142519.3(FAM111A):c.1012A>G:p.Thr338Ala	coding	Pathogenic/Likely_pathogenic
11	59152779	A	G	A59152779G	FAM111A	NM_001142519.3(FAM111A):c.1111A>G:p.Thr371Ala	coding	Benign
11	59152875	A	G	A59152875G	FAM111A	NM_001142519.3(FAM111A):c.1207A>G:p.Ile403Val	coding	Benign
11	59152964	G	A	G59152964A	FAM111A	NM_001142519.3(FAM111A):c.1296G>A:p.Glu432=	coding	Benign
11	59152967	A	G	A59152967G	FAM111A	NM_001142519.3(FAM111A):c.1299A>G:p.Ile433Met	coding	Benign
11	59153247	C	A	C59153247A	FAM111A	NM_001142519.3(FAM111A):c.1579C>A:p.Pro527Thr	coding	Pathogenic/Likely_pathogenic
11	59153251	A	G	A59153251G	FAM111A	NM_001142519.3(FAM111A):c.1583A>G:p.Asp528Gly	coding	Pathogenic/Likely_pathogenic
11	59153374	G	A	G59153374A	FAM111A	NM_001312909.2(FAM111A):c.1706G>A:p.Arg569His	coding	Pathogenic/Likely_pathogenic
11	59153426	G	A	G59153426A	FAM111A	NM_001142519.3(FAM111A):c.1758G>A:p.Lys586=	coding	Benign
11	59182297	T	G	T59182297G	DTX4	NM_015177.2(DTX4):c.770T>G:p.Val257Gly	coding	Benign
11	59182379	C	T	C59182379T	DTX4	NM_015177.2(DTX4):c.852C>T:p.Thr284=	coding	Benign
11	59189190	G	A	G59189190A	DTX4	NM_015177.2(DTX4):c.1026G>A:p.Ala342=	coding	Benign
11	59189229	C	T	C59189229T	DTX4	NM_015177.2(DTX4):c.1065C>T:p.Val355=	coding	Benign
11	59211308	A	G	A59211308G	MPEG1	NM_001039396.2(MPEG1):c.1558T>C:p.Leu520=	coding	Benign
11	59211465	G	A	G59211465A	MPEG1	NM_001039396.2(MPEG1):c.1401C>T:p.Ala467=	coding	Benign
11	59212161	G	A	G59212161A	MPEG1	NM_001039396.2(MPEG1):c.705C>T:p.Ala235=	coding	Benign
11	59594000	G	A	G59594000A	OSBP	NM_002556.3(OSBP):c.1557+10C>T	noncoding	Benign
11	59594048	G	A	G59594048A	OSBP	NM_002556.3(OSBP):c.1519C>T:p.Arg507Ter	coding	Pathogenic
11	59610385	C	T	C59610385T	OSBP	NM_002556.3(OSBP):c.567G>A:p.Glu189=	coding	Benign
11	59654036	G	A	G59654036A	PATL1	NM_152716.3(PATL1):c.1068C>T:p.His356=	coding	Benign
11	59655644	G	T	G59655644T	PATL1	NM_152716.3(PATL1):c.910C>A:p.Arg304=	coding	Benign
11	59656547	A	G	A59656547G	PATL1	NM_152716.3(PATL1):c.675T>C:p.Pro225=	coding	Benign
11	59658892	G	T	G59658892T	PATL1	NM_152716.3(PATL1):c.400C>A:p.Arg134=	coding	Benign
11	59790514	T	C	T59790514C	STX3	NM_004177.5(STX3):c.290-5T>C	noncoding	Benign
11	59790520	C	T	C59790520T	STX3	NM_004177.5(STX3):c.291C>T:p.Ser97=	coding	Benign
11	59793172	G	A	G59793172A	STX3	NM_004177.5(STX3):c.540G>A:p.Gly180=	coding	Benign
11	59793484	T	C	T59793484C	STX3	NM_004177.5(STX3):c.645T>C:p.Phe215=	coding	Benign
11	59795477	C	T	C59795477T	STX3	NM_004177.5(STX3):c.781C>T:p.Arg261Trp	coding	Benign
11	59797322	G	A	G59797322A	STX3	NM_004177.5(STX3):c.826G>A:p.Gly276Ser	coding	Benign
11	59797349	T	C	T59797349C	STX3	NM_004177.5(STX3):c.853T>C:p.Ser285Pro	coding	Benign
11	59831732	C	T	C59831732T	CBLIF	NM_005142.3(CBLIF):c.1138G>A:p.Val380Ile	coding	Benign/Likely_benign
11	59835891	G	A	G59835891A	CBLIF	NM_005142.3(CBLIF):c.990C>T:p.Asn330=	coding	Benign
11	59836017	G	T	G59836017T	CBLIF	NM_005142.3(CBLIF):c.872-8C>A	noncoding	Benign
11	59837281	T	C	T59837281C	CBLIF	NM_005142.3(CBLIF):c.764A>G:p.Asn255Ser	coding	Benign
11	59837295	C	T	C59837295T	CBLIF	NM_005142.3(CBLIF):c.750G>A:p.Thr250=	coding	Benign
11	59843108	A	G	A59843108G	CBLIF	NM_005142.3(CBLIF):c.290T>C:p.Met97Thr	coding	Benign
11	59843888	C	T	C59843888T	CBLIF	NM_005142.3(CBLIF):c.247G>A:p.Asp83Asn	coding	Benign
11	59843889	G	A	G59843889A	CBLIF	NM_005142.3(CBLIF):c.246C>T:p.Ser82=	coding	Benign
11	59843942	C	T	C59843942T	CBLIF	NM_005142.3(CBLIF):c.193G>A:p.Gly65Arg	coding	Benign/Likely_benign
11	59844056	C	T	C59844056T	CBLIF	NM_005142.3(CBLIF):c.80-1G>A	coding	Pathogenic
11	59845374	C	T	C59845374T	CBLIF	NM_005142.3(CBLIF):c.79+1G>A	noncoding	Pathogenic
11	59845386	T	C	T59845386C	CBLIF	NM_005142.3(CBLIF):c.68A>G:p.Gln23Arg	coding	Benign
11	59845395	G	A	G59845395A	CBLIF	NM_005142.3(CBLIF):c.59C>T:p.Thr20Ile	coding	Benign
11	59855881	C	T	C59855881T	TCN1	NM_001062.4(TCN1):c.925G>A:p.Val309Ile	coding	Benign
11	59855905	C	A	C59855905A	TCN1	NM_001062.4(TCN1):c.901G>T:p.Asp301Tyr	coding	Benign
11	59861691	G	A	G59861691A	TCN1	NM_001062.4(TCN1):c.401-9C>T	noncoding	Benign
11	59864062	C	T	C59864062T	TCN1	NM_001062.4(TCN1):c.104G>A:p.Arg35His	coding	Benign
11	60093449	C	T	C60093449T	MS4A2	NM_000139.5(MS4A2):c.428C>T:p.Thr143Met	coding	Benign
11	60094059	C	A	C60094059A	MS4A2	NM_000139.5(MS4A2):c.633C>A:p.Asn211Lys	coding	Benign
11	60400424	C	G	C60400424G	MS4A14	NM_032597.5(MS4A14):c.288C>G:p.Leu96=	coding	Benign
11	60462485	G	C	G60462485C	MS4A1	NM_152866.3(MS4A1):c.111G>C:p.Leu37=	coding	Benign
11	60462497	G	A	G60462497A	MS4A1	NM_152866.3(MS4A1):c.123G>A:p.Thr41=	coding	Benign
11	60463058	C	T	C60463058T	MS4A1	NM_021950.3(MS4A1):c.216C>T:p.Ile72=	coding	Benign
11	60503700	G	T	G60503700T	MS4A12	NM_017716.3(MS4A12):c.472-1G>T	noncoding	Benign
11	60869233	G	A	G60869233A	ZP1	NM_207341.3(ZP1):c.285G>A:p.Ser95=	coding	Benign
11	60870418	C	T	C60870418T	ZP1	NM_207341.3(ZP1):c.769C>T:p.Gln257Ter	coding	Pathogenic
11	60873565	G	T	G60873565T	ZP1	NM_207341.3(ZP1):c.1430+1G>T	coding	Pathogenic
11	60875160	C	T	C60875160T	ZP1	NM_207341.3(ZP1):c.1686C>T:p.Asp562=	coding	Benign
11	60875182	G	A	G60875182A	ZP1	NM_207341.3(ZP1):c.1708G>A:p.Val570Met	coding	Pathogenic
11	60875506	T	C	T60875506C	ZP1	NM_207341.3(ZP1):c.1775-8T>C	noncoding	Pathogenic
11	60927691	C	T	C60927691T	TMEM132A	NM_178031.3(TMEM132A):c.366C>T:p.Asp122=	coding	Benign
11	60936070	C	A	C60936070A	TMEM132A	NM_178031.3(TMEM132A):c.2235C>A:p.Pro745=	coding	Benign
11	61017751	T	C	T61017751C	CD6	NM_006725.5(CD6):c.1583-8T>C	noncoding	Benign
11	61259168	G	A	G61259168A	VWCE	NM_152718.2(VWCE):c.2375C>T:p.Ser792Leu	coding	Benign
11	61265147	G	A	G61265147A	VWCE	NM_152718.2(VWCE):c.2031C>T:p.Asp677=	coding	Benign
11	61273265	G	A	G61273265A	VWCE	NM_152718.2(VWCE):c.1633C>T:p.Arg545Ter	coding	Pathogenic
11	61281191	G	A	G61281191A	VWCE	NM_152718.2(VWCE):c.832C>T:p.Arg278Trp	coding	Benign
11	61309037	G	A	G61309037A	DDB1	NM_001923.5(DDB1):c.2607C>T:p.Ala869=	coding	Benign
11	61310416	A	G	A61310416G	DDB1	NM_001923.5(DDB1):c.2280T>C:p.Ala760=	coding	Benign
11	61322299	C	T	C61322299T	DDB1	NM_001923.5(DDB1):c.1119G>A:p.Gly373=	coding	Benign
11	61325604	C	T	C61325604T	DDB1	NM_001923.5(DDB1):c.762+7G>A	noncoding	Benign
11	61364367	G	A	G61364367A	TMEM138	NM_016464.5(TMEM138):c.-24G>A	noncoding	Benign
11	61364523	G	A	G61364523A	TMEM138	NM_016464.5(TMEM138):c.128+5G>A	noncoding	Pathogenic
11	61366177	G	A	G61366177A	TMEM138	NM_016464.5(TMEM138):c.261G>A:p.Val87=	coding	Benign
11	61367657	A	G	A61367657G	TMEM138	NM_016464.5(TMEM138):c.301-266A>G	noncoding	Benign
11	61367998	G	A	G61367998A	TMEM138	NM_016464.5(TMEM138):c.376G>A:p.Ala126Thr	coding	Pathogenic
11	61368594	C	G	C61368594G	TMEM138	NM_016464.5(TMEM138):c.377-3C>G	noncoding	Pathogenic
11	61368600	C	T	C61368600T	TMEM138	NM_016464.5(TMEM138):c.380C>T:p.Ala127Val	coding	Pathogenic
11	61368607	G	A	G61368607A	TMEM138	NM_016464.5(TMEM138):c.387G>A:p.Leu129=	coding	Benign/Likely_benign
11	61392189	T	C	T61392189C	TMEM216	NC_000011.10:g.61392189T>C	noncoding	Benign
11	61392608	C	G	C61392608G	TMEM216	NM_001173990.3(TMEM216):c.-24C>G	noncoding	Benign/Likely_benign
11	61392630	G	T	G61392630T	TMEM216	NM_001173990.3(TMEM216):c.-2G>T	noncoding	Benign
11	61393214	C	T	C61393214T	TMEM216	NM_001173990.3(TMEM216):c.35-17C>T	noncoding	Benign/Likely_benign
11	61393965	G	A	G61393965A	TMEM216	NM_001173990.3(TMEM216):c.218G>A:p.Arg73His	coding	Pathogenic
11	61393965	G	T	G61393965T	TMEM216	NM_001173990.3(TMEM216):c.218G>T:p.Arg73Leu	coding	Pathogenic/Likely_pathogenic
11	61397774	G	C	G61397774C	TMEM216	NM_001173990.3(TMEM216):c.230G>C:p.Gly77Ala	coding	Pathogenic/Likely_pathogenic
11	61397797	C	A	C61397797A	TMEM216	NM_001173990.3(TMEM216):c.253C>A:p.Arg85=	coding	Benign/Likely_benign
11	61397797	C	T	C61397797T	TMEM216	NM_001173990.3(TMEM216):c.253C>T:p.Arg85Ter	coding	Pathogenic/Likely_pathogenic
11	61397808	G	A	G61397808A	TMEM216	NM_001173990.3(TMEM216):c.264G>A:p.Pro88=	coding	Benign
11	61397885	T	G	T61397885G	TMEM216	NM_001173990.3(TMEM216):c.341T>G:p.Leu114Arg	coding	Pathogenic/Likely_pathogenic
11	61397942	T	G	T61397942G	TMEM216	NM_001173990.3(TMEM216):c.398T>G:p.Leu133Ter	coding	Pathogenic/Likely_pathogenic
11	61398269	G	C	G61398269C	TMEM216	NM_001173990.3(TMEM216):c.432-1G>C	coding	Benign
11	61398720	T	C	T61398720C	TMEM216	NM_001173990.3(TMEM216):c.*444T>C	noncoding	Benign/Likely_benign
11	61398834	G	A	G61398834A	TMEM216	NM_001173990.3(TMEM216):c.*558G>A	noncoding	Benign
11	61430192	G	A	G61430192A	SDHAF2	NM_017841.2(SDHAF2):c.36+10G>A	noncoding	Benign
11	61430199	T	C	T61430199C	SDHAF2	NM_017841.2(SDHAF2):c.36+17T>C	noncoding	Benign/Likely_benign
11	61437651	A	G	A61437651G	SDHAF2	NM_017841.2(SDHAF2):c.63A>G:p.Leu21=	coding	Benign/Likely_benign
11	61437685	C	T	C61437685T	SDHAF2	NM_017841.2(SDHAF2):c.97C>T:p.Arg33Cys	coding	Benign/Likely_benign
11	61437820	G	A	G61437820A	SDHAF2	NM_017841.2(SDHAF2):c.232G>A:p.Gly78Arg	coding	Pathogenic
11	61437962	G	A	G61437962A	SDHAF2	NM_017841.2(SDHAF2):c.261-42G>A	noncoding	Benign
11	61438012	C	T	C61438012T	SDHAF2	NM_017841.4(SDHAF2):c.269C>T:p.Ala90Val	coding	Benign/Likely_benign
11	61438052	C	T	C61438052T	SDHAF2	NM_017841.4(SDHAF2):c.309C>T:p.Asn103=	coding	Benign/Likely_benign
11	61446120	A	G	A61446120G	SDHAF2	NM_017841.2(SDHAF2):c.*49A>G	noncoding	Benign
11	61446147	C	T	C61446147T	SDHAF2	NM_017841.2(SDHAF2):c.*76C>T	noncoding	Benign
11	61446448	T	C	T61446448C	SDHAF2	NM_017841.2(SDHAF2):c.*377T>C	noncoding	Benign
11	61446449	G	A	G61446449A	SDHAF2	NM_017841.2(SDHAF2):c.*378G>A	noncoding	Benign
11	61446486	A	G	A61446486G	SDHAF2	NM_017841.2(SDHAF2):c.*415A>G	noncoding	Benign
11	61446527	A	G	A61446527G	SDHAF2	NM_017841.2(SDHAF2):c.*456A>G	noncoding	Benign
11	61446728	A	G	A61446728G	SDHAF2	NM_017841.4(SDHAF2):c.*657A>G	noncoding	Benign
11	61484728	A	G	A61484728G	PPP1R32	NM_145017.3(PPP1R32):c.422A>G:p.Gln141Arg	coding	Benign
11	61723495	C	T	C61723495T	DAGLA	NM_006133.3(DAGLA):c.471C>T:p.Phe157=	coding	Benign
11	61734879	C	T	C61734879T	DAGLA	NM_006133.3(DAGLA):c.1005C>T:p.Phe335=	coding	Benign
11	61743564	G	T	G61743564T	DAGLA	NM_006133.3(DAGLA):c.2204G>T:p.Gly735Val	coding	Benign
11	61744322	C	G	C61744322G	DAGLA	NM_006133.3(DAGLA):c.2962C>G:p.Leu988Val	coding	Benign
11	61774059	A	G	A61774059G	MYRF	NM_001127392.3(MYRF):c.1208A>G:p.Gln403Arg	coding	Pathogenic
11	61774120	C	T	C61774120T	MYRF	NM_001127392.3(MYRF):c.1269C>T:p.Leu423=	coding	Benign
11	61774154	G	A	G61774154A	MYRF	NM_001127392.3(MYRF):c.1303G>A:p.Gly435Arg	coding	Pathogenic
11	61779333	G	A	G61779333A	MYRF	NM_001127392.3(MYRF):c.2084G>A:p.Arg695His	coding	Pathogenic
11	61779416	G	A	G61779416A	MYRF	NM_001127392.3(MYRF):c.2167G>A:p.Ala723Thr	coding	Benign
11	61780991	C	T	C61780991T	MYRF	NM_001127392.3(MYRF):c.2518C>T:p.Arg840Ter	coding	Pathogenic
11	61781046	G	A	G61781046A	MYRF	NM_001127392.3(MYRF):c.2572+1G>A	coding	Pathogenic
11	61781625	G	A	G61781625A	MYRF	NM_001127392.3(MYRF):c.2817G>A:p.Trp939Ter	coding	Pathogenic
11	61783599	A	G	A61783599G	MYRF	NM_001127392.3(MYRF):c.3118A>G:p.Arg1040Gly	coding	Pathogenic
11	61784292	C	T	C61784292T	MYRF	NM_001127392.3(MYRF):c.3207C>T:p.Pro1069=	coding	Benign
11	61786092	C	T	C61786092T	MYRF	NM_001127392.3(MYRF):c.3405C>T:p.Leu1135=	coding	Benign
11	61848203	C	T	C61848203T	FADS2	NM_004265.4(FADS2):c.663C>T:p.His221=	coding	Benign
11	61848288	C	T	C61848288T	FADS2	NM_004265.4(FADS2):c.744+4C>T	noncoding	Benign
11	61950135	C	T	C61950135T	BEST1	NM_001363592.1(BEST1):c.-329C>T	noncoding	Benign
11	61950243	T	C	T61950243C	BEST1	NM_001363592.1(BEST1):c.-221T>C	noncoding	Benign
11	61950428	G	T	G61950428T	BEST1	NM_004183.4(BEST1):c.-37+1G>T	noncoding	Pathogenic
11	61951817	C	T	C61951817T	BEST1	NM_004183.4(BEST1):c.11C>T:p.Thr4Ile	coding	Pathogenic
11	61951822	A	C	A61951822C	BEST1	NM_004183.4(BEST1):c.16A>C:p.Thr6Pro	coding	Pathogenic
11	61951822	A	G	A61951822G	BEST1	NM_004183.4(BEST1):c.16A>G:p.Thr6Ala	coding	Pathogenic/Likely_pathogenic
11	61951831	G	A	G61951831A	BEST1	NM_004183.4(BEST1):c.25G>A:p.Val9Met	coding	Pathogenic
11	61951834	G	A	G61951834A	BEST1	NM_004183.4(BEST1):c.28G>A:p.Ala10Thr	coding	Pathogenic
11	61951835	C	T	C61951835T	BEST1	NM_004183.4(BEST1):c.29C>T:p.Ala10Val	coding	Pathogenic
11	61951843	C	G	C61951843G	BEST1	NM_004183.4(BEST1):c.37C>G:p.Arg13Gly	coding	Pathogenic/Likely_pathogenic
11	61951850	G	A	G61951850A	BEST1	NM_004183.4(BEST1):c.44G>A:p.Gly15Asp	coding	Pathogenic
11	61951864	C	G	C61951864G	BEST1	NM_004183.4(BEST1):c.58C>G:p.Leu20Val	coding	Pathogenic
11	61951879	C	T	C61951879T	BEST1	NM_004183.4(BEST1):c.73C>T:p.Arg25Trp	coding	Pathogenic
11	61951880	G	A	G61951880A	BEST1	NM_004183.4(BEST1):c.74G>A:p.Arg25Gln	coding	Pathogenic
11	61951891	T	C	T61951891C	BEST1	NM_004183.4(BEST1):c.85T>C:p.Tyr29His	coding	Pathogenic
11	61951893	C	G	C61951893G	BEST1	NM_004183.4(BEST1):c.87C>G:p.Tyr29Ter	coding	Pathogenic
11	61951915	T	C	T61951915C	BEST1	NM_004183.4(BEST1):c.109T>C:p.Leu37=	coding	Benign
11	61951928	T	C	T61951928C	BEST1	NM_004183.4(BEST1):c.122T>C:p.Leu41Pro	coding	Pathogenic
11	61951946	G	A	G61951946A	BEST1	NM_004183.4(BEST1):c.140G>A:p.Arg47His	coding	Pathogenic/Likely_pathogenic
11	61955155	G	C	G61955155C	BEST1	NM_004183.4(BEST1):c.201G>C:p.Leu67=	coding	Benign
11	61955167	C	T	C61955167T	BEST1	NM_004183.4(BEST1):c.213C>T:p.Ser71=	coding	Benign/Likely_benign
11	61955173	C	A	C61955173A	BEST1	NM_004183.4(BEST1):c.219C>A:p.Ile73=	coding	Benign
11	61955194	C	A	C61955194A	BEST1	NM_004183.4(BEST1):c.240C>A:p.Phe80Leu	coding	Pathogenic/Likely_pathogenic
11	61955723	T	C	T61955723C	BEST1	NM_004183.4(BEST1):c.253T>C:p.Tyr85His	coding	Pathogenic
11	61955726	G	A	G61955726A	BEST1	NM_004183.4(BEST1):c.256G>A:p.Val86Met	coding	Pathogenic
11	61955742	C	T	C61955742T	BEST1	NM_004183.4(BEST1):c.272C>T:p.Thr91Ile	coding	Pathogenic
11	61955744	C	T	C61955744T	BEST1	NM_004183.4(BEST1):c.274C>T:p.Arg92Cys	coding	Pathogenic
11	61955749	G	C	G61955749C	BEST1	NM_004183.4(BEST1):c.279G>C:p.Trp93Cys	coding	Pathogenic
11	61955764	G	C	G61955764C	BEST1	NM_004183.4(BEST1):c.294G>C:p.Glu98Asp	coding	Pathogenic
11	61955767	C	A	C61955767A	BEST1	NM_004183.4(BEST1):c.297C>A:p.Asn99Lys	coding	Pathogenic
11	61955825	G	C	G61955825C	BEST1	NM_004183.4(BEST1):c.355G>C:p.Glu119Gln	coding	Pathogenic
11	61955874	G	A	G61955874A	BEST1	NM_004183.4(BEST1):c.404G>A:p.Gly135Asp	coding	Pathogenic
11	61956946	C	T	C61956946T	BEST1	NM_004183.4(BEST1):c.584C>T:p.Ala195Val	coding	Pathogenic/Likely_pathogenic
11	61956960	C	T	C61956960T	BEST1	NM_004183.4(BEST1):c.598C>T:p.Arg200Ter	coding	Pathogenic
11	61956966	C	T	C61956966T	BEST1	NM_004183.4(BEST1):c.604C>T:p.Arg202Trp	coding	Pathogenic
11	61956976	T	C	T61956976C	BEST1	NM_004183.4(BEST1):c.614T>C:p.Ile205Thr	coding	Pathogenic
11	61956980	G	A	G61956980A	BEST1	NM_004183.4(BEST1):c.618G>A:p.Leu206=	coding	Benign/Likely_benign
11	61956981	C	A	C61956981A	BEST1	NM_004183.4(BEST1):c.619C>A:p.Leu207Ile	coding	Benign/Likely_benign
11	61956999	G	A	G61956999A	BEST1	NM_004183.4(BEST1):c.636+1G>A	coding	Pathogenic
11	61957402	C	T	C61957402T	BEST1	NM_004183.4(BEST1):c.652C>T:p.Arg218Cys	coding	Pathogenic/Likely_pathogenic
11	61957403	G	A	G61957403A	BEST1	NM_004183.4(BEST1):c.653G>A:p.Arg218His	coding	Pathogenic/Likely_pathogenic
11	61957415	G	T	G61957415T	BEST1	NM_004183.4(BEST1):c.665G>T:p.Gly222Val	coding	Pathogenic
11	61957429	T	A	T61957429A	BEST1	NM_004183.4(BEST1):c.679T>A:p.Tyr227Asn	coding	Pathogenic
11	61957446	C	A	C61957446A	BEST1	NM_004183.4(BEST1):c.696C>A:p.Ile232=	coding	Benign
11	61957453	G	T	G61957453T	BEST1	NM_004183.4(BEST1):c.703G>T:p.Val235Leu	coding	Pathogenic
11	61957454	T	C	T61957454C	BEST1	NM_004183.4(BEST1):c.704T>C:p.Val235Ala	coding	Pathogenic
11	61957457	A	G	A61957457G	BEST1	NM_004183.4(BEST1):c.707A>G:p.Tyr236Cys	coding	Pathogenic
11	61958146	G	A	G61958146A	BEST1	NM_004183.4(BEST1):c.715G>A:p.Val239Met	coding	Pathogenic
11	61958158	G	A	G61958158A	BEST1	NM_004183.4(BEST1):c.727G>A:p.Ala243Thr	coding	Pathogenic
11	61958159	C	T	C61958159T	BEST1	NM_004183.4(BEST1):c.728C>T:p.Ala243Val	coding	Pathogenic
11	61958194	C	T	C61958194T	BEST1	NM_004183.4(BEST1):c.763C>T:p.Arg255Trp	coding	Pathogenic
11	61958252	C	G	C61958252G	BEST1	NM_004183.4(BEST1):c.821C>G:p.Pro274Arg	coding	Pathogenic
11	61958282	A	T	A61958282T	BEST1	NM_004183.4(BEST1):c.851A>T:p.Tyr284Phe	coding	Pathogenic
11	61959504	G	A	G61959504A	BEST1	NM_004183.4(BEST1):c.874G>A:p.Glu292Lys	coding	Pathogenic/Likely_pathogenic
11	61959517	A	G	A61959517G	BEST1	NM_004183.4(BEST1):c.887A>G:p.Asn296Ser	coding	Pathogenic/Likely_pathogenic
11	61959518	C	G	C61959518G	BEST1	NM_004183.4(BEST1):c.888C>G:p.Asn296Lys	coding	Pathogenic
11	61959519	C	T	C61959519T	BEST1	NM_004183.4(BEST1):c.889C>T:p.Pro297Ser	coding	Pathogenic
11	61959526	G	A	G61959526A	BEST1	NM_004183.4(BEST1):c.896G>A:p.Gly299Glu	coding	Pathogenic
11	61959528	G	A	G61959528A	BEST1	NM_004183.4(BEST1):c.898G>A:p.Glu300Lys	coding	Pathogenic
11	61959530	G	C	G61959530C	BEST1	NM_004183.4(BEST1):c.900G>C:p.Glu300Asp	coding	Pathogenic
11	61959533	T	G	T61959533G	BEST1	NM_004183.4(BEST1):c.903T>G:p.Asp301Glu	coding	Pathogenic
11	61959534	G	A	G61959534A	BEST1	NM_004183.4(BEST1):c.904G>A:p.Asp302Asn	coding	Pathogenic
11	61959535	A	C	A61959535C	BEST1	NM_004183.4(BEST1):c.905A>C:p.Asp302Ala	coding	Pathogenic
11	61959538	A	T	A61959538T	BEST1	NM_004183.4(BEST1):c.908A>T:p.Asp303Val	coding	Pathogenic
11	61959540	G	A	G61959540A	BEST1	NM_004183.4(BEST1):c.910G>A:p.Asp304Asn	coding	Pathogenic
11	61959550	C	T	C61959550T	BEST1	NM_004183.4(BEST1):c.920C>T:p.Thr307Ile	coding	Pathogenic/Likely_pathogenic
11	61959564	G	A	G61959564A	BEST1	NM_004183.4(BEST1):c.934G>A:p.Asp312Asn	coding	Pathogenic
11	61959892	G	A	G61959892A	BEST1	NM_004183.4(BEST1):c.949G>A:p.Val317Met	coding	Pathogenic
11	61959899	T	C	T61959899C	BEST1	NM_004183.4(BEST1):c.956T>C:p.Leu319Pro	coding	Pathogenic
11	61959966	C	T	C61959966T	FTH1;BEST1	NM_004183.4(BEST1):c.1023C>T:p.Pro341=	coding	Benign/Likely_benign
11	61962469	C	T	C61962469T	BEST1	NM_004183.4(BEST1):c.1315C>T:p.Gln439Ter	coding	Pathogenic
11	61962524	C	G	C61962524G	BEST1	NM_004183.4(BEST1):c.1370C>G:p.Pro457Arg	coding	Pathogenic
11	61962564	G	A	G61962564A	FTH1;BEST1	NM_004183.4(BEST1):c.1410G>A:p.Thr470=	coding	Benign
11	61962628	G	A	G61962628A	FTH1;BEST1	NM_004183.4(BEST1):c.1474G>A:p.Val492Ile	coding	Benign/Likely_benign
11	61962711	C	T	C61962711T	FTH1;BEST1	NM_004183.4(BEST1):c.1557C>T:p.Ser519=	coding	Benign
11	61962762	T	C	T61962762C	FTH1;BEST1	NM_004183.4(BEST1):c.1608T>C:p.Thr536=	coding	Benign
11	61964408	C	T	C61964408T	FTH1;BEST1	NM_002032.3(FTH1):c.*319G>A	noncoding	Benign/Likely_benign
11	61964505	G	A	G61964505A	FTH1;BEST1	NM_002032.3(FTH1):c.*222C>T	noncoding	Benign
11	61964896	A	G	A61964896G	FTH1	NM_002032.3(FTH1):c.388-5T>C	noncoding	Benign
11	61964975	T	C	T61964975C	FTH1;BEST1	NM_002032.3(FTH1):c.387+12A>G	noncoding	Benign/Likely_benign
11	61965469	T	C	T61965469C	FTH1;BEST1	NM_002032.3(FTH1):c.161A>G:p.Lys54Arg	coding	Benign/Likely_benign
11	61967366	G	A	G61967366A	FTH1	NM_002032.3(FTH1):c.60C>T:p.Ala20=	coding	Benign
11	61967589	T	A	T61967589A	FTH1	NM_002032.3(FTH1):c.-164A>T	noncoding	Pathogenic
11	62129826	G	A	G62129826A	INCENP	NM_001040694.2(INCENP):c.299G>A:p.Arg100His	coding	Benign
11	62129932	C	T	C62129932T	INCENP	NM_001040694.2(INCENP):c.405C>T:p.Thr135=	coding	Benign
11	62129996	G	A	G62129996A	INCENP	NM_001040694.2(INCENP):c.469G>A:p.Glu157Lys	coding	Benign
11	62138744	G	A	G62138744A	INCENP	NM_001040694.2(INCENP):c.1147G>A:p.Glu383Lys	coding	Benign
11	62145672	C	T	C62145672T	INCENP	NM_001040694.2(INCENP):c.1880C>T:p.Ala627Val	coding	Benign
11	62151919	G	A	G62151919A	INCENP	NM_001040694.2(INCENP):c.2700G>A:p.Pro900=	coding	Benign
11	62243467	G	A	G62243467A	SCGB1D2	NM_006551.4(SCGB1D2):c.234G>A:p.Ala78=	coding	Benign
11	62357028	T	C	T62357028C	ASRGL1	NM_001083926.2(ASRGL1):c.375T>C:p.Phe125=	coding	Benign
11	62422264	C	T	C62422264T	SCGB1A1	NM_003357.5(SCGB1A1):c.99C>T:p.Thr33=	coding	Benign
11	62516833	G	C	G62516833C	AHNAK	NM_001620.3(AHNAK):c.17584C>G:p.Leu5862Val	coding	Benign
11	62516997	G	A	G62516997A	AHNAK	NM_001620.3(AHNAK):c.17420C>T:p.Ser5807Phe	coding	Benign
11	62517320	C	T	C62517320T	AHNAK	NM_001620.3(AHNAK):c.17097G>A:p.Glu5699=	coding	Benign
11	62517930	C	T	C62517930T	AHNAK	NM_001620.3(AHNAK):c.16487G>A:p.Gly5496Glu	coding	Benign
11	62518099	C	T	C62518099T	AHNAK	NM_001620.3(AHNAK):c.16318G>A:p.Val5440Met	coding	Benign
11	62518693	C	G	C62518693G	AHNAK	NM_001620.3(AHNAK):c.15724G>C:p.Gly5242Arg	coding	Benign
11	62519194	C	T	C62519194T	AHNAK	NM_001620.3(AHNAK):c.15223G>A:p.Val5075Met	coding	Benign
11	62520206	G	A	G62520206A	AHNAK	NM_001620.3(AHNAK):c.14211C>T:p.Gly4737=	coding	Benign
11	62520542	G	A	G62520542A	AHNAK	NM_001620.3(AHNAK):c.13875C>T:p.Pro4625=	coding	Benign
11	62521506	T	C	T62521506C	AHNAK	NM_001620.3(AHNAK):c.12911A>G:p.Asp4304Gly	coding	Benign
11	62521924	T	C	T62521924C	AHNAK	NM_001620.3(AHNAK):c.12493A>G:p.Ile4165Val	coding	Benign
11	62521937	G	A	G62521937A	AHNAK	NM_001620.3(AHNAK):c.12480C>T:p.Gly4160=	coding	Benign
11	62522036	C	T	C62522036T	AHNAK	NM_001620.3(AHNAK):c.12381G>A:p.Pro4127=	coding	Benign
11	62523230	C	T	C62523230T	AHNAK	NM_001620.3(AHNAK):c.11187G>A:p.Lys3729=	coding	Benign
11	62523653	G	A	G62523653A	AHNAK	NM_001620.3(AHNAK):c.10764C>T:p.Ala3588=	coding	Benign
11	62523657	T	C	T62523657C	AHNAK	NM_001620.3(AHNAK):c.10760A>G:p.Asn3587Ser	coding	Benign
11	62524284	A	G	A62524284G	AHNAK	NM_001620.3(AHNAK):c.10133T>C:p.Ile3378Thr	coding	Benign
11	62524877	G	A	G62524877A	AHNAK	NM_001620.3(AHNAK):c.9540C>T:p.Asp3180=	coding	Benign
11	62525480	G	A	G62525480A	AHNAK	NM_001620.3(AHNAK):c.8937C>T:p.Gly2979=	coding	Benign
11	62525508	A	C	A62525508C	AHNAK	NM_001620.3(AHNAK):c.8909T>G:p.Leu2970Trp	coding	Benign
11	62526000	C	T	C62526000T	AHNAK	NM_001620.3(AHNAK):c.8417G>A:p.Cys2806Tyr	coding	Benign
11	62526008	A	G	A62526008G	AHNAK	NM_001620.3(AHNAK):c.8409T>C:p.Asp2803=	coding	Benign
11	62526444	C	A	C62526444A	AHNAK	NM_001620.3(AHNAK):c.7973G>T:p.Gly2658Val	coding	Benign
11	62526855	G	C	G62526855C	AHNAK	NM_001620.3(AHNAK):c.7562C>G:p.Pro2521Arg	coding	Benign
11	62527040	A	G	A62527040G	AHNAK	NM_001620.3(AHNAK):c.7377T>C:p.Asp2459=	coding	Benign
11	62527519	A	G	A62527519G	AHNAK	NM_001620.3(AHNAK):c.6898T>C:p.Phe2300Leu	coding	Benign
11	62527677	T	G	T62527677G	AHNAK	NM_001620.3(AHNAK):c.6740A>C:p.Lys2247Thr	coding	Benign
11	62527799	A	C	A62527799C	AHNAK	NM_001620.3(AHNAK):c.6618T>G:p.Val2206=	coding	Benign
11	62528551	C	A	C62528551A	AHNAK	NM_001620.3(AHNAK):c.5866G>T:p.Val1956Leu	coding	Benign
11	62528585	C	A	C62528585A	AHNAK	NM_001620.3(AHNAK):c.5832G>T:p.Val1944=	coding	Benign
11	62529120	C	A	C62529120A	AHNAK	NM_001620.3(AHNAK):c.5297G>T:p.Gly1766Val	coding	Benign
11	62529420	T	C	T62529420C	AHNAK	NM_001620.3(AHNAK):c.4997A>G:p.Lys1666Arg	coding	Benign
11	62529526	C	T	C62529526T	AHNAK	NM_001620.3(AHNAK):c.4891G>A:p.Gly1631Ser	coding	Benign
11	62529703	T	C	T62529703C	AHNAK	NM_001620.3(AHNAK):c.4714A>G:p.Met1572Val	coding	Benign
11	62529773	A	C	A62529773C	AHNAK	NM_001620.3(AHNAK):c.4644T>G:p.Ile1548Met	coding	Benign
11	62529848	A	G	A62529848G	AHNAK	NM_001620.3(AHNAK):c.4569T>C:p.Phe1523=	coding	Benign
11	62529927	G	C	G62529927C	AHNAK	NM_001620.3(AHNAK):c.4490C>G:p.Pro1497Arg	coding	Benign
11	62529938	A	G	A62529938G	AHNAK	NM_001620.3(AHNAK):c.4479T>C:p.Asp1493=	coding	Benign
11	62530602	C	G	C62530602G	AHNAK	NM_001620.3(AHNAK):c.3815G>C:p.Arg1272Pro	coding	Benign
11	62531229	C	T	C62531229T	AHNAK	NM_001620.3(AHNAK):c.3188G>A:p.Arg1063Lys	coding	Benign
11	62531360	A	G	A62531360G	AHNAK	NM_001620.3(AHNAK):c.3057T>C:p.Asp1019=	coding	Benign
11	62532272	A	G	A62532272G	AHNAK	NM_001620.3(AHNAK):c.2145T>C:p.Tyr715=	coding	Benign
11	62533182	C	A	C62533182A	AHNAK	NM_001620.3(AHNAK):c.1235G>T:p.Ser412Ile	coding	Benign
11	62533239	C	T	C62533239T	AHNAK	NM_001620.3(AHNAK):c.1178G>A:p.Gly393Glu	coding	Benign
11	62533241	C	T	C62533241T	AHNAK	NM_001620.3(AHNAK):c.1176G>A:p.Gln392=	coding	Benign
11	62533496	G	A	G62533496A	AHNAK	NM_001620.3(AHNAK):c.921C>T:p.Pro307=	coding	Benign
11	62535087	C	T	C62535087T	AHNAK	NM_001620.3(AHNAK):c.258G>A:p.Leu86=	coding	Benign
11	62575159	G	A	G62575159A	TUT1	NM_022830.3(TUT1):c.2560C>T:p.Leu854=	coding	Benign
11	62575346	C	T	C62575346T	TUT1	NM_022830.3(TUT1):c.2373G>A:p.Glu791=	coding	Benign
11	62575658	G	C	G62575658C	TUT1	NM_022830.3(TUT1):c.2061C>G:p.Asp687Glu	coding	Benign
11	62576650	A	G	A62576650G	TUT1	NM_022830.3(TUT1):c.1474+7T>C	noncoding	Benign
11	62577271	C	T	C62577271T	TUT1	NM_022830.3(TUT1):c.1181G>A:p.Arg394His	coding	Benign
11	62579038	C	T	C62579038T	TUT1	NM_022830.3(TUT1):c.691-8G>A	noncoding	Benign
11	62612844	G	A	G62612844A	ROM1	NM_000327.3(ROM1):c.-438G>A	noncoding	Benign
11	62612953	G	T	G62612953T	ROM1	NM_000327.3(ROM1):c.-329G>T	noncoding	Benign
11	62613623	C	T	C62613623T	ROM1	NM_000327.3(ROM1):c.342C>T:p.Leu114=	coding	Benign/Likely_benign
11	62613634	G	C	G62613634C	ROM1	NM_000327.3(ROM1):c.353=:p.Ala118=	coding	Benign
11	62614336	G	C	G62614336C	ROM1	NM_000327.3(ROM1):c.669G>C:p.Arg223=	coding	Benign
11	62614353	G	A	G62614353A	ROM1	NM_000327.3(ROM1):c.686G>A:p.Arg229His	coding	Benign/Likely_benign
11	62614369	C	T	C62614369T	ROM1	NM_000327.3(ROM1):c.702C>T:p.Tyr234=	coding	Benign
11	62614391	C	T	C62614391T	ROM1	NM_000327.4(ROM1):c.724C>T:p.Arg242Ter	coding	Benign
11	62614479	T	C	T62614479C	ROM1	NM_000327.3(ROM1):c.812T>C:p.Met271Thr	coding	Benign/Likely_benign
11	62616526	G	A	G62616526A	B3GAT3	NM_012200.4(B3GAT3):c.889C>T:p.Arg297Trp	coding	Pathogenic
11	62616585	C	T	C62616585T	B3GAT3	NM_012200.4(B3GAT3):c.830G>A:p.Arg277Gln	coding	Pathogenic/Likely_pathogenic
11	62616594	G	T	G62616594T	B3GAT3	NM_012200.4(B3GAT3):c.821C>A:p.Thr274Asn	coding	Benign
11	62616706	C	T	C62616706T	B3GAT3	NM_012200.4(B3GAT3):c.709G>A:p.Val237Met	coding	Benign
11	62616748	C	T	C62616748T	B3GAT3	NM_012200.4(B3GAT3):c.667G>A:p.Gly223Ser	coding	Pathogenic
11	62617100	G	A	G62617100A	B3GAT3	NM_012200.4(B3GAT3):c.505C>T:p.Arg169Trp	coding	Pathogenic
11	62617124	G	A	G62617124A	B3GAT3	NM_012200.4(B3GAT3):c.481C>T:p.Arg161Trp	coding	Pathogenic
11	62617186	G	A	G62617186A	B3GAT3	NM_012200.4(B3GAT3):c.419C>T:p.Pro140Leu	coding	Pathogenic
11	62620579	G	A	G62620579A	B3GAT3	NM_012200.4(B3GAT3):c.175C>T:p.Arg59Ter	coding	Pathogenic
11	62620646	G	A	G62620646A	B3GAT3	NM_012200.4(B3GAT3):c.108C>T:p.Pro36=	coding	Benign
11	62626369	G	A	G62626369A	GANAB	NM_198334.3(GANAB):c.2590C>T:p.Arg864Ter	coding	Pathogenic
11	62626411	G	A	G62626411A	GANAB	NM_198334.3(GANAB):c.2548C>T:p.His850Tyr	coding	Benign
11	62626633	G	A	G62626633A	GANAB	NM_198334.3(GANAB):c.2449C>T:p.Arg817Trp	coding	Pathogenic
11	62626639	G	A	G62626639A	GANAB	NM_198334.3(GANAB):c.2443C>T:p.Arg815Ter	coding	Pathogenic
11	62629193	C	G	C62629193G	GANAB	NM_198334.3(GANAB):c.1936+1G>C	noncoding	Pathogenic
11	62629653	C	G	C62629653G	GANAB	NM_198334.3(GANAB):c.1769G>C:p.Arg590Pro	coding	Pathogenic
11	62629966	G	A	G62629966A	GANAB	NM_198334.3(GANAB):c.1594-9C>T	noncoding	Benign
11	62630200	A	G	A62630200G	GANAB	NM_198334.3(GANAB):c.1590T>C:p.Tyr530=	coding	Benign
11	62630667	G	A	G62630667A	GANAB	NM_198334.3(GANAB):c.1320C>T:p.Thr440=	coding	Benign
11	62630732	G	A	G62630732A	GANAB	NM_198334.3(GANAB):c.1255C>T:p.His419Tyr	coding	Benign
11	62630788	C	A	C62630788A	GANAB	NM_198334.3(GANAB):c.1199G>T:p.Arg400Leu	coding	Pathogenic
11	62630802	G	A	G62630802A	GANAB	NM_198334.3(GANAB):c.1185C>T:p.Gly395=	coding	Benign
11	62631032	G	C	G62631032C	GANAB	NM_198334.3(GANAB):c.1148C>G:p.Thr383Arg	coding	Pathogenic
11	62631154	C	A	C62631154A	GANAB	NM_198334.3(GANAB):c.1026G>T:p.Leu342=	coding	Benign
11	62632644	T	C	T62632644C	GANAB	NM_198334.3(GANAB):c.917A>G:p.Asn306Ser	coding	Benign
11	62633188	C	T	C62633188T	GANAB	NM_198334.3(GANAB):c.714G>A:p.Pro238=	coding	Benign
11	62634863	C	T	C62634863T	GANAB	NM_198334.3(GANAB):c.518G>A:p.Arg173Gln	coding	Benign
11	62634921	G	A	G62634921A	GANAB	NM_198334.3(GANAB):c.460C>T:p.Arg154Trp	coding	Benign
11	62639430	G	A	G62639430A	GANAB	NM_198334.3(GANAB):c.181C>T:p.Arg61Ter	coding	Pathogenic
11	62639695	G	C	G62639695C	GANAB	NM_198334.3(GANAB):c.75C>G:p.Val25=	coding	Benign
11	62649573	A	T	A62649573T	INTS5	NM_030628.2(INTS5):c.507T>A:p.Ala169=	coding	Benign
11	62666509	C	T	C62666509T	CSKMT	NM_001043229.2(CSKMT):c.181C>T:p.Gln61Ter	coding	Benign
11	62671347	G	T	G62671347T	UQCC3	NM_024099.4(LBHD1):c.-11+217C>A	noncoding	Benign
11	62671804	T	A	T62671804A	UQCC3	NM_001085372.3(UQCC3):c.59T>A:p.Val20Glu	coding	Pathogenic
11	62671942	C	T	C62671942T	UQCC3	NM_001085372.3(UQCC3):c.121-11C>T	noncoding	Benign
11	62672058	T	G	T62672058G	UQCC3	NM_001085372.3(UQCC3):c.226T>G:p.Trp76Gly	coding	Benign/Likely_benign
11	62672082	G	C	G62672082C	UQCC3	NM_001085372.3(UQCC3):c.250G>C:p.Gly84Arg	coding	Benign
11	62672097	G	A	G62672097A	UQCC3	NM_001085372.3(UQCC3):c.265G>A:p.Gly89Ser	coding	Benign
11	62690803	T	C	T62690803C	BSCL2	NM_032667.6(BSCL2):c.945A>G:p.Glu315=	coding	Benign
11	62690814	C	A	C62690814A	BSCL2	NM_032667.6(BSCL2):c.934G>T:p.Glu312Ter	coding	Pathogenic
11	62691132	G	A	G62691132A	BSCL2	NM_032667.6(BSCL2):c.823C>T:p.Arg275Ter	coding	Pathogenic
11	62691143	T	C	T62691143C	BSCL2	NM_032667.6(BSCL2):c.814-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	62691191	A	C	A62691191C	BSCL2	NM_032667.6(BSCL2):c.814-50T>G	noncoding	Benign
11	62691300	G	A	G62691300A	BSCL2	NM_032667.6(BSCL2):c.793C>T:p.Arg265Ter	coding	Pathogenic
11	62691346	G	A	G62691346A	BSCL2	NM_032667.6(BSCL2):c.747C>T:p.Ile249=	coding	Benign/Likely_benign
11	62691423	T	C	T62691423C	BSCL2	NM_032667.6(BSCL2):c.672-2A>G	noncoding	Pathogenic
11	62691423	T	G	T62691423G	BSCL2	NM_032667.6(BSCL2):c.672-2A>C	noncoding	Pathogenic
11	62691424	G	C	G62691424C	BSCL2	NM_032667.6(BSCL2):c.672-3C>G	noncoding	Pathogenic
11	62692371	C	T	C62692371T	BSCL2	NM_032667.6(BSCL2):c.671+5G>A	noncoding	Pathogenic
11	62692394	G	A	G62692394A	BSCL2	NM_032667.6(BSCL2):c.653C>T:p.Ala218Val	coding	Benign/Likely_benign
11	62692413	C	G	C62692413G	BSCL2	NM_032667.6(BSCL2):c.634G>C:p.Ala212Pro	coding	Pathogenic
11	62692463	G	A	G62692463A	BSCL2	NM_032667.6(BSCL2):c.584C>T:p.Thr195Ile	coding	Pathogenic
11	62692475	T	C	T62692475C	BSCL2	NM_032667.6(BSCL2):c.574-2A>G	noncoding	Pathogenic
11	62692522	A	G	A62692522G	BSCL2	NM_032667.6(BSCL2):c.574-49T>C	noncoding	Benign
11	62692594	T	C	T62692594C	BSCL2	NM_032667.6(BSCL2):c.573+69A>G	noncoding	Benign
11	62692648	G	A	G62692648A	BSCL2	NM_032667.6(BSCL2):c.573+15C>T	noncoding	Benign
11	62692671	C	A	C62692671A	BSCL2	NM_032667.6(BSCL2):c.565G>T:p.Glu189Ter	coding	Pathogenic
11	62692798	C	G	C62692798G	BSCL2	NM_032667.6(BSCL2):c.439-1G>C	coding	Pathogenic
11	62694567	C	T	C62694567T	BSCL2	NM_001122955.4(BSCL2):c.630+1G>A	noncoding	Pathogenic
11	62694594	G	A	G62694594A	BSCL2	NM_032667.6(BSCL2):c.412C>T:p.Arg138Ter	coding	Pathogenic
11	62694660	C	A	C62694660A	BSCL2	NM_032667.6(BSCL2):c.346G>T:p.Glu116Ter	coding	Pathogenic
11	62694840	C	A	C62694840A	BSCL2	NM_032667.6(BSCL2):c.295-129G>T	noncoding	Benign
11	62702457	C	A	C62702457A	BSCL2	NM_032667.6(BSCL2):c.294+11G>T	noncoding	Benign
11	62702493	G	A	G62702493A	BSCL2	NM_032667.6(BSCL2):c.269C>T:p.Ser90Leu	coding	Pathogenic
11	62702499	T	C	T62702499C	BSCL2;HNRNPUL2-BSCL2	NM_032667.6(BSCL2):c.263A>G:p.Asn88Ser	coding	Pathogenic
11	62705300	C	A	C62705300A	BSCL2	NM_032667.6(BSCL2):c.212+1G>T	noncoding	Pathogenic
11	62705301	C	G	C62705301G	BSCL2;HNRNPUL2-BSCL2	NM_032667.6(BSCL2):c.212G>C:p.Arg71Thr	coding	Pathogenic
11	62705303	G	C	G62705303C	BSCL2	NM_032667.6(BSCL2):c.210C>G:p.Tyr70Ter	coding	Pathogenic
11	62705371	G	A	G62705371A	BSCL2	NM_032667.6(BSCL2):c.142C>T:p.Leu48Phe	coding	Pathogenic
11	62705572	C	T	C62705572T	BSCL2	NM_032667.6(BSCL2):c.-60G>A	coding	Benign
11	62706230	C	T	C62706230T	BSCL2	NM_032667.6(BSCL2):c.-133G>A	coding	Benign
11	62706279	G	T	G62706279T	BSCL2	NM_032667.6(BSCL2):c.-182C>A	coding	Benign/Likely_benign
11	62706280	C	T	C62706280T	BSCL2	NM_032667.6(BSCL2):c.-183G>A	coding	Benign/Likely_benign
11	62707136	G	C	G62707136C	BSCL2	NM_001122955.3(BSCL2):c.60C>G:p.Asp20Glu	coding	Benign
11	62708713	T	C	T62708713C	GNG3	NM_012202.5(GNG3):c.135T>C:p.Cys45=	coding	Benign
11	62833013	G	A	G62833013A	WDR74	NM_018093.3(WDR74):c.1097C>T:p.Pro366Leu	coding	Benign
11	62839235	T	C	T62839235C	WDR74	NM_018093.3(WDR74):c.172A>G:p.Met58Val	coding	Benign
11	62839435	G	A	G62839435A	WDR74	NM_018093.3(WDR74):c.65-7C>T	noncoding	Benign
11	62839550	G	C	G62839550C	WDR74	NM_018093.3(WDR74):c.21C>G:p.Arg7=	coding	Benign
11	62856389	A	T	A62856389T	SLC3A2	NM_001012662.3(SLC3A2):c.112+8A>T	noncoding	Benign
11	62881276	C	T	C62881276T	SLC3A2	NM_001013251.3(SLC3A2):c.253C>T:p.Leu85=	coding	Benign
11	62881314	T	G	T62881314G	SLC3A2	NM_001013251.3(SLC3A2):c.291T>G:p.Ala97=	coding	Benign
11	62888346	C	T	C62888346T	SLC3A2	NM_001013251.3(SLC3A2):c.1243C>T:p.Pro415Ser	coding	Benign
11	62888406	C	T	C62888406T	SLC3A2	NM_001013251.3(SLC3A2):c.1303C>T:p.Leu435=	coding	Benign
11	62888574	A	C	A62888574C	SLC3A2	NM_001013251.3(SLC3A2):c.1471A>C:p.Lys491Gln	coding	Benign
11	62909964	T	G	T62909964G	CHRM1	NM_000738.3(CHRM1):c.1137A>C:p.Thr379=	coding	Benign
11	62910258	G	A	G62910258A	CHRM1	NM_000738.3(CHRM1):c.843C>T:p.Asp281=	coding	Benign
11	62977279	G	A	G62977279A	SLC22A6	NM_153276.3(SLC22A6):c.1470C>T:p.Tyr490=	coding	Benign
11	62993276	G	T	G62993276T	SLC22A8	NM_004254.4(SLC22A8):c.1590C>A:p.Ile530=	coding	Benign
11	62996072	A	G	A62996072G	SLC22A8	NM_004254.4(SLC22A8):c.842T>C:p.Val281Ala	coding	Benign
11	63629346	T	C	T63629346C	ATL3	NM_015459.5(ATL3):c.1599A>G:p.Arg533=	coding	Benign
11	63631078	C	T	C63631078T	ATL3	NM_015459.5(ATL3):c.1501G>A:p.Gly501Arg	coding	Benign
11	63631145	T	C	T63631145C	ATL3	NM_015459.5(ATL3):c.1434A>G:p.Gly478=	coding	Benign
11	63631205	T	C	T63631205C	ATL3	NM_015459.5(ATL3):c.1374A>G:p.Ser458=	coding	Benign
11	63631250	G	C	G63631250C	ATL3	NM_015459.5(ATL3):c.1329C>G:p.Thr443=	coding	Benign
11	63635524	C	T	C63635524T	ATL3	NM_015459.5(ATL3):c.1035+10G>A	noncoding	Benign
11	63635556	G	C	G63635556C	ATL3	NM_015459.5(ATL3):c.1013C>G:p.Pro338Arg	coding	Pathogenic
11	63636198	C	T	C63636198T	ATL3	NM_015459.5(ATL3):c.978+9G>A	noncoding	Benign
11	63643503	T	C	T63643503C	ATL3	NM_015459.5(ATL3):c.712-8A>G	noncoding	Benign
11	63644238	A	G	A63644238G	ATL3	NM_015459.5(ATL3):c.642T>C:p.Asp214=	coding	Benign
11	63646550	T	C	T63646550C	ATL3	NM_015459.5(ATL3):c.575A>G:p.Tyr192Cys	coding	Pathogenic
11	63652563	G	A	G63652563A	ATL3	NM_015459.5(ATL3):c.418C>T:p.Leu140=	coding	Benign
11	63671305	C	A	C63671305A	ATL3	NM_015459.5(ATL3):c.31G>T:p.Ala11Ser	coding	Benign
11	63681666	C	T	C63681666T	RTN3	NM_001265589.2(RTN3):c.30C>T:p.Ser10=	coding	Benign
11	63704885	A	C	A63704885C	RTN3	NM_001265589.2(RTN3):c.177A>C:p.Val59=	coding	Benign
11	63720310	C	T	C63720310T	RTN3	NM_001265589.2(RTN3):c.1808C>T:p.Pro603Leu	coding	Benign
11	63900815	C	T	C63900815T	MARK2	NM_001039469.2(MARK2):c.924C>T:p.His308=	coding	Benign
11	63902743	C	A	C63902743A	MARK2	NM_001039469.2(MARK2):c.1377C>A:p.Pro459=	coding	Benign
11	63909045	C	T	C63909045T	MARK2	NM_001039469.2(MARK2):c.2175C>T:p.Ser725=	coding	Benign
11	63909090	G	A	G63909090A	MARK2	NM_001039469.2(MARK2):c.2220G>A:p.Pro740=	coding	Benign
11	63914824	G	A	G63914824A	RCOR2	NM_173587.4(RCOR2):c.319-8C>T	noncoding	Benign
11	63974702	C	T	C63974702T	COX8A	NM_004074.3(COX8A):c.22C>T:p.Leu8=	coding	Benign
11	63974747	C	T	C63974747T	COX8A	NM_004074.3(COX8A):c.67C>T:p.Arg23Cys	coding	Benign
11	63974791	C	A	C63974791A	COX8A	NM_004074.3(COX8A):c.111C>A:p.Ile37=	coding	Benign
11	63975081	T	G	T63975081G	COX8A	NM_004074.3(COX8A):c.114+287T>G	noncoding	Benign
11	63975948	A	G	A63975948G	COX8A	NM_004074.3(COX8A):c.115-277A>G	noncoding	Benign
11	63976224	G	C	G63976224C	COX8A	NM_004074.3(COX8A):c.115-1G>C	noncoding	Pathogenic
11	64116375	C	T	C64116375T	FLRT1	NM_014067.4(MACROD1):c.517+34864G>A	coding	Benign
11	64116384	C	T	C64116384T	FLRT1	NM_014067.4(MACROD1):c.517+34855G>A	coding	Benign
11	64116724	C	T	C64116724T	FLRT1	NM_014067.4(MACROD1):c.517+34515G>A	coding	Benign
11	64117053	G	A	G64117053A	FLRT1	NM_014067.4(MACROD1):c.517+34186C>T	coding	Benign
11	64117089	G	A	G64117089A	FLRT1	NM_014067.4(MACROD1):c.517+34150C>T	coding	Benign
11	64117160	G	A	G64117160A	FLRT1	NM_014067.4(MACROD1):c.517+34079C>T	coding	Benign
11	64117275	C	T	C64117275T	FLRT1	NM_014067.4(MACROD1):c.517+33964G>A	coding	Benign
11	64117995	C	T	C64117995T	FLRT1	NM_014067.4(MACROD1):c.517+33244G>A	coding	Benign
11	64118041	C	A	C64118041A	FLRT1	NM_014067.4(MACROD1):c.517+33198G>T	coding	Benign
11	64118100	C	A	C64118100A	FLRT1	NM_014067.4(MACROD1):c.517+33139G>T	coding	Benign
11	64118100	C	T	C64118100T	FLRT1	NM_014067.4(MACROD1):c.517+33139G>A	coding	Benign
11	64193128	C	T	C64193128T	STIP1	NM_006819.3(STIP1):c.60C>T:p.Ile20=	coding	Benign
11	64193149	C	T	C64193149T	STIP1	NM_006819.3(STIP1):c.81C>T:p.Tyr27=	coding	Benign
11	64207412	G	A	G64207412A	FERMT3	NM_031471.6(FERMT3):c.48G>A:p.Trp16Ter	coding	Pathogenic
11	64210595	C	G	C64210595G	FERMT3	NM_031471.6(FERMT3):c.161-16C>G	noncoding	Benign
11	64210609	A	C	A64210609C	FERMT3	NM_031471.6(FERMT3):c.161-2A>C	noncoding	Pathogenic
11	64210656	A	C	A64210656C	FERMT3	NM_031471.6(FERMT3):c.206A>C:p.Lys69Thr	coding	Benign
11	64210699	C	T	C64210699T	FERMT3	NM_031471.6(FERMT3):c.249C>T:p.Tyr83=	coding	Benign
11	64211062	C	T	C64211062T	FERMT3	NM_031471.6(FERMT3):c.405C>T:p.His135=	coding	Benign
11	64211287	C	T	C64211287T	FERMT3	NM_031471.6(FERMT3):c.527C>T:p.Ala176Val	coding	Benign
11	64211635	C	G	C64211635G	FERMT3	NM_031471.6(FERMT3):c.684-10C>G	noncoding	Benign
11	64211640	C	G	C64211640G	FERMT3	NM_031471.6(FERMT3):c.684-5C>G	noncoding	Benign
11	64211648	G	A	G64211648A	FERMT3	NM_031471.6(FERMT3):c.687G>A:p.Trp229Ter	coding	Pathogenic
11	64219241	C	A	C64219241A	FERMT3	NM_031471.6(FERMT3):c.787-10C>A	noncoding	Benign
11	64219550	C	T	C64219550T	FERMT3	NM_031471.6(FERMT3):c.921C>T:p.Ser307=	coding	Benign
11	64219559	G	C	G64219559C	FERMT3	NM_031471.6(FERMT3):c.930G>C:p.Val310=	coding	Benign
11	64219660	T	C	T64219660C	FERMT3	NM_031471.6(FERMT3):c.1029+2T>C	noncoding	Pathogenic
11	64219867	C	T	C64219867T	FERMT3	NM_031471.6(FERMT3):c.1080-24C>T	noncoding	Benign
11	64220441	G	A	G64220441A	FERMT3	NM_031471.6(FERMT3):c.1317G>A:p.Gln439=	coding	Benign/Likely_benign
11	64220444	G	A	G64220444A	FERMT3	NM_031471.6(FERMT3):c.1320G>A:p.Gln440=	coding	Benign
11	64220517	G	A	G64220517A	FERMT3	NM_031471.6(FERMT3):c.1393G>A:p.Glu465Lys	coding	Benign
11	64220528	C	T	C64220528T	FERMT3	NM_031471.6(FERMT3):c.1404C>T:p.Ala468=	coding	Benign/Likely_benign
11	64220630	C	T	C64220630T	FERMT3	NM_031471.6(FERMT3):c.1506C>T:p.Leu502=	coding	Benign
11	64220649	C	T	C64220649T	FERMT3	NM_031471.6(FERMT3):c.1525C>T:p.Arg509Ter	coding	Pathogenic
11	64223069	C	T	C64223069T	FERMT3	NM_031471.6(FERMT3):c.1692C>T:p.Asp564=	coding	Benign
11	64223094	C	T	C64223094T	FERMT3	NM_031471.6(FERMT3):c.1717C>T:p.Arg573Ter	coding	Pathogenic
11	64223099	G	C	G64223099C	FERMT3	NM_031471.6(FERMT3):c.1722G>C:p.Leu574=	coding	Benign
11	64223417	G	A	G64223417A	FERMT3	NM_031471.6(FERMT3):c.1917G>A:p.Thr639=	coding	Benign
11	64235856	C	T	C64235856T	VEGFB	NM_003377.5(VEGFB):c.147C>T:p.Pro49=	coding	Benign
11	64237220	C	T	C64237220T	VEGFB	NM_003377.5(VEGFB):c.408C>T:p.Asp136=	coding	Benign
11	64237452	G	A	G64237452A	VEGFB	NM_003377.5(VEGFB):c.443G>A:p.Arg148His	coding	Benign
11	64237625	G	A	G64237625A	VEGFB	NM_003377.5(VEGFB):c.616G>A:p.Gly206Arg	coding	Benign
11	64251756	C	T	C64251756T	PLCB3	NM_000932.3(PLCB3):c.99+8C>T	noncoding	Benign
11	64254750	G	A	G64254750A	PLCB3	NM_000932.3(PLCB3):c.180G>A:p.Glu60=	coding	Benign
11	64255441	C	T	C64255441T	PLCB3	NM_000932.3(PLCB3):c.513C>T:p.Pro171=	coding	Benign
11	64262083	C	A	C64262083A	PLCB3	NM_000932.3(PLCB3):c.2038+7C>A	noncoding	Benign
11	64263558	G	A	G64263558A	PLCB3	NM_000932.3(PLCB3):c.2416G>A:p.Val806Ile	coding	Benign
11	64265057	C	A	C64265057A	PLCB3	NM_000932.3(PLCB3):c.2759C>A:p.Pro920His	coding	Benign
11	64265919	G	C	G64265919C	PLCB3	NM_000932.3(PLCB3):c.3069G>C:p.Glu1023Asp	coding	Benign
11	64297507	C	A	C64297507A	KCNK4	NM_033310.3(KCNK4):c.515C>A:p.Ala172Glu	coding	Pathogenic
11	64298178	G	C	G64298178C	KCNK4	NM_033310.3(KCNK4):c.730G>C:p.Ala244Pro	coding	Pathogenic
11	64307271	C	T	C64307271T	ESRRA	NM_004451.5(ESRRA):c.92C>T:p.Thr31Ile	coding	Benign
11	64315119	T	C	T64315119C	ESRRA	NM_004451.5(ESRRA):c.861T>C:p.Ala287=	coding	Benign
11	64353363	C	T	C64353363T	CCDC88B	NM_032251.6(CCDC88B):c.3700C>T:p.Leu1234=	coding	Benign
11	64361956	C	T	C64361956T	RPS6KA4	NM_003942.3(RPS6KA4):c.860C>T:p.Ala287Val	coding	Benign
11	64369866	C	T	C64369866T	RPS6KA4	NM_003942.3(RPS6KA4):c.1770C>T:p.Cys590=	coding	Benign
11	64556035	C	T	C64556035T	SLC22A11	NM_018484.4(SLC22A11):c.36C>T:p.Gly12=	coding	Benign
11	64556062	G	A	G64556062A	SLC22A11	NM_018484.4(SLC22A11):c.63G>A:p.Val21=	coding	Benign
11	64590839	C	T	C64590839T	SLC22A12	NM_001276327.1(SLC22A12):c.-718C>T	noncoding	Benign
11	64591133	T	C	T64591133C	SLC22A12	NM_001276327.1(SLC22A12):c.-424T>C	noncoding	Benign
11	64591337	G	A	G64591337A	SLC22A12	NM_144585.4(SLC22A12):c.-220G>A	noncoding	Benign
11	64591802	C	T	C64591802T	SLC22A12	NM_144585.4(SLC22A12):c.246C>T:p.Asn82=	coding	Benign
11	64591814	C	T	C64591814T	SLC22A12	NM_144585.4(SLC22A12):c.258C>T:p.His86=	coding	Benign
11	64591825	G	A	G64591825A	SLC22A12	NM_144585.4(SLC22A12):c.269G>A:p.Arg90His	coding	Pathogenic
11	64592802	T	C	T64592802C	SLC22A12	NM_144585.4(SLC22A12):c.426T>C:p.His142=	coding	Benign
11	64593513	G	A	G64593513A	SLC22A12	NM_144585.4(SLC22A12):c.615G>A:p.Leu205=	coding	Benign/Likely_benign
11	64593548	C	T	C64593548T	SLC22A12	NM_144585.4(SLC22A12):c.650C>T:p.Thr217Met	coding	Pathogenic
11	64593570	G	A	G64593570A	SLC22A12	NM_144585.4(SLC22A12):c.661+11G>A	noncoding	Benign
11	64593747	G	A	G64593747A	SLC22A12	NM_144585.4(SLC22A12):c.774G>A:p.Trp258Ter	coding	Pathogenic
11	64598512	T	C	T64598512C	SLC22A12	NM_144585.4(SLC22A12):c.831-4T>C	noncoding	Benign/Likely_benign
11	64598579	G	T	G64598579T	SLC22A12	NM_144585.4(SLC22A12):c.894G>T:p.Glu298Asp	coding	Pathogenic
11	64599687	G	T	G64599687T	SLC22A12	NM_144585.4(SLC22A12):c.1082G>T:p.Gly361Val	coding	Pathogenic
11	64599701	G	C	G64599701C	SLC22A12	NM_144585.4(SLC22A12):c.1096G>C:p.Gly366Arg	coding	Pathogenic
11	64599853	A	G	A64599853G	SLC22A12	NM_144585.4(SLC22A12):c.1248A>G:p.Ala416=	coding	Benign
11	64599858	T	G	T64599858G	SLC22A12	NM_144585.4(SLC22A12):c.1253T>G:p.Leu418Arg	coding	Pathogenic
11	64600390	T	C	T64600390C	SLC22A12	NM_144585.4(SLC22A12):c.1309T>C:p.Leu437=	coding	Benign
11	64601819	G	A	G64601819A	SLC22A12	NM_144585.4(SLC22A12):c.*268G>A	noncoding	Benign
11	64602068	G	A	G64602068A	SLC22A12	NM_144585.4(SLC22A12):c.*517G>A	noncoding	Benign
11	64607403	C	T	C64607403T	NRXN2	NM_015080.4(NRXN2):c.4932G>A:p.Ala1644=	coding	Benign
11	64630393	G	A	G64630393A	NRXN2	NM_015080.4(NRXN2):c.3757+9C>T	noncoding	Benign
11	64648804	G	C	G64648804C	NRXN2	NM_015080.4(NRXN2):c.3213C>G:p.Leu1071=	coding	Benign
11	64651249	C	T	C64651249T	NRXN2	NM_015080.4(NRXN2):c.2918+6G>A	noncoding	Benign
11	64651290	G	A	G64651290A	NRXN2	NM_015080.4(NRXN2):c.2883C>T:p.Asn961=	coding	Benign/Likely_benign
11	64651644	G	A	G64651644A	NRXN2	NM_015080.4(NRXN2):c.2537-8C>T	noncoding	Benign
11	64660895	G	A	G64660895A	NRXN2	NM_015080.4(NRXN2):c.2043C>T:p.Gly681=	coding	Benign
11	64667368	G	A	G64667368A	NRXN2	NM_015080.4(NRXN2):c.1680C>T:p.Asp560=	coding	Benign
11	64685796	G	A	G64685796A	NRXN2	NM_015080.4(NRXN2):c.1002C>T:p.Ala334=	coding	Benign
11	64685874	C	T	C64685874T	NRXN2	NM_015080.4(NRXN2):c.924G>A:p.Gln308=	coding	Benign
11	64713001	G	C	G64713001C	NRXN2	NM_015080.4(NRXN2):c.699C>G:p.His233Gln	coding	Benign
11	64713454	C	T	C64713454T	NRXN2	NM_015080.4(NRXN2):c.246G>A:p.Leu82=	coding	Benign
11	64728885	G	T	G64728885T	RASGRP2	NM_001098671.2(RASGRP2):c.1749C>A:p.Gly583=	coding	Benign
11	64729045	G	T	G64729045T	RASGRP2	NM_001098671.2(RASGRP2):c.1592-3C>A	noncoding	Benign
11	64735891	G	A	G64735891A	RASGRP2	NM_001098671.2(RASGRP2):c.1173+12C>T	noncoding	Benign
11	64737040	G	A	G64737040A	RASGRP2	NM_001098671.2(RASGRP2):c.814-6C>T	noncoding	Benign
11	64739431	C	A	C64739431A	RASGRP2	NM_001098671.2(RASGRP2):c.742G>T:p.Gly248Trp	coding	Pathogenic
11	64741085	G	A	G64741085A	RASGRP2	NM_001098671.2(RASGRP2):c.240-6C>T	noncoding	Benign
11	64742032	G	A	G64742032A	RASGRP2	NM_001098671.2(RASGRP2):c.154C>T:p.Leu52=	coding	Benign
11	64742848	G	A	G64742848A	RASGRP2	NM_001098671.2(RASGRP2):c.19C>T:p.Leu7=	coding	Benign
11	64746796	A	G	A64746796G	PYGM	NM_005609.4(PYGM):c.2392T>C:p.Trp798Arg	coding	Pathogenic/Likely_pathogenic
11	64746796	A	T	A64746796T	PYGM	NM_005609.4(PYGM):c.2392T>A:p.Trp798Arg	coding	Pathogenic
11	64746806	G	A	G64746806A	PYGM	NM_005609.4(PYGM):c.2382C>T:p.Asn794=	coding	Benign/Likely_benign
11	64746809	C	T	C64746809T	PYGM	NM_005609.4(PYGM):c.2380-1G>A	coding	Pathogenic
11	64747034	A	G	A64747034G	PYGM	NM_005609.4(PYGM):c.2313-47T>C	noncoding	Benign
11	64747337	G	C	G64747337C	PYGM	NM_005609.4(PYGM):c.2199C>G:p.Tyr733Ter	coding	Pathogenic
11	64747359	C	T	C64747359T	PYGM	NM_005609.4(PYGM):c.2178-1G>A	coding	Pathogenic
11	64750442	G	A	G64750442A	PYGM	NM_005609.4(PYGM):c.2111C>T:p.Ala704Val	coding	Pathogenic
11	64750444	C	T	C64750444T	PYGM	NM_005609.4(PYGM):c.2109G>A:p.Glu703=	coding	Benign/Likely_benign
11	64750497	C	T	C64750497T	PYGM	NM_005609.4(PYGM):c.2056G>A:p.Gly686Arg	coding	Pathogenic/Likely_pathogenic
11	64750544	G	A	G64750544A	PYGM	NM_005609.4(PYGM):c.2009C>T:p.Ala670Val	coding	Benign/Likely_benign
11	64750557	G	C	G64750557C	PYGM	NM_005609.4(PYGM):c.1996C>G:p.Gln666Glu	coding	Pathogenic
11	64751331	C	T	C64751331T	PYGM	NM_005609.4(PYGM):c.1963G>A:p.Glu655Lys	coding	Pathogenic
11	64751346	G	A	G64751346A	PYGM	NM_005609.4(PYGM):c.1948C>T:p.Arg650Ter	coding	Pathogenic
11	64751590	T	C	T64751590C	PYGM	NM_005609.4(PYGM):c.1827+7A>G	noncoding	Benign
11	64751597	C	T	C64751597T	PYGM	NM_005609.4(PYGM):c.1827G>A:p.Lys609=	coding	Pathogenic/Likely_pathogenic
11	64751873	G	A	G64751873A	PYGM	NM_005609.4(PYGM):c.1768+51C>T	noncoding	Benign
11	64751923	C	T	C64751923T	PYGM	NM_005609.4(PYGM):c.1768+1G>A	noncoding	Pathogenic
11	64751966	G	A	G64751966A	PYGM	NM_005609.4(PYGM):c.1726C>T:p.Arg576Ter	coding	Pathogenic/Likely_pathogenic
11	64751970	A	T	A64751970T	PYGM	NM_005609.4(PYGM):c.1722T>A:p.Tyr574Ter	coding	Pathogenic
11	64752035	C	A	C64752035A	PYGM	NM_005609.4(PYGM):c.1657G>T:p.Glu553Ter	coding	Pathogenic
11	64752064	T	G	T64752064G	PYGM	NM_005609.4(PYGM):c.1628A>C:p.Lys543Thr	coding	Pathogenic/Likely_pathogenic
11	64752071	C	A	C64752071A	PYGM	NM_005609.4(PYGM):c.1621G>T:p.Glu541Ter	coding	Pathogenic
11	64752454	G	C	G64752454C	PYGM	NM_005609.4(PYGM):c.1569C>G:p.Leu523=	coding	Benign
11	64752462	T	A	T64752462A	PYGM	NM_005609.4(PYGM):c.1561A>T:p.Lys521Ter	coding	Pathogenic
11	64752496	C	A	C64752496A	PYGM	NM_005609.4(PYGM):c.1527G>T:p.Gly509=	coding	Benign/Likely_benign
11	64752783	C	G	C64752783G	PYGM	NM_005609.4(PYGM):c.1519-279G>C	noncoding	Benign
11	64752902	T	A	T64752902A	PYGM	NM_005609.4(PYGM):c.1518+171A>T	noncoding	Benign
11	64753097	G	A	G64753097A	PYGM	NM_005609.4(PYGM):c.1494C>T:p.Pro498=	coding	Benign
11	64753125	G	C	G64753125C	PYGM	NM_005609.4(PYGM):c.1466C>G:p.Pro489Arg	coding	Pathogenic/Likely_pathogenic
11	64753470	G	T	G64753470T	PYGM	NM_005609.4(PYGM):c.1403+49C>A	noncoding	Benign
11	64753556	C	T	C64753556T	PYGM	NM_005609.4(PYGM):c.1366G>A:p.Val456Met	coding	Pathogenic/Likely_pathogenic
11	64753557	G	A	G64753557A	PYGM	NM_005609.4(PYGM):c.1365C>T:p.Gly455=	coding	Benign
11	64753633	G	A	G64753633A	PYGM	NM_005609.4(PYGM):c.1289C>T:p.Ser430Leu	coding	Benign
11	64753682	G	C	G64753682C	PYGM	NM_005609.4(PYGM):c.1240C>G:p.Arg414Gly	coding	Benign
11	64753878	C	T	C64753878T	PYGM	NM_005609.4(PYGM):c.1239+1G>A	noncoding	Pathogenic
11	64753903	G	A	G64753903A	PYGM	NM_005609.4(PYGM):c.1215C>T:p.Tyr405=	coding	Benign/Likely_benign
11	64753931	A	G	A64753931G	PYGM	NM_005609.4(PYGM):c.1187T>C:p.Leu396Pro	coding	Pathogenic
11	64753934	G	A	G64753934A	PYGM	NM_005609.4(PYGM):c.1184C>T:p.Thr395Met	coding	Benign
11	64755320	G	A	G64755320A	PYGM	NM_005609.4(PYGM):c.808C>T:p.Arg270Ter	coding	Pathogenic/Likely_pathogenic
11	64755563	G	C	G64755563C	PYGM	NM_005609.4(PYGM):c.661-5C>G	noncoding	Benign
11	64756022	C	A	C64756022A	PYGM	NM_005609.4(PYGM):c.661-464G>T	noncoding	Benign
11	64756159	C	T	C64756159T	PYGM	NM_005609.4(PYGM):c.661-601G>A	noncoding	Pathogenic
11	64757744	C	T	C64757744T	PYGM	NM_005609.4(PYGM):c.660+35G>A	noncoding	Benign
11	64757826	C	T	C64757826T	PYGM	NM_005609.4(PYGM):c.613G>A:p.Gly205Ser	coding	Pathogenic
11	64757862	C	A	C64757862A	PYGM	NM_005609.4(PYGM):c.577G>T:p.Ala193Ser	coding	Benign/Likely_benign
11	64757875	G	T	G64757875T	PYGM	NM_005609.4(PYGM):c.564C>A:p.Asn188Lys	coding	Benign
11	64758371	G	A	G64758371A	PYGM	NM_005609.4(PYGM):c.425-22C>T	noncoding	Benign
11	64758668	G	A	G64758668A	PYGM	NM_005609.4(PYGM):c.280C>T:p.Arg94Trp	coding	Pathogenic
11	64759608	T	C	T64759608C	PYGM	NM_005609.4(PYGM):c.243+48A>G	noncoding	Benign
11	64759747	T	C	T64759747C	PYGM	NM_005609.4(PYGM):c.152A>G:p.Asp51Gly	coding	Pathogenic
11	64759751	G	A	G64759751A	PYGM	NM_005609.4(PYGM):c.148C>T:p.Arg50Ter	coding	Pathogenic
11	64759898	T	A	T64759898A	PYGM	NM_005609.4(PYGM):c.1A>T:p.Met1Leu	coding	Pathogenic
11	64759898	T	G	T64759898G	PYGM	NM_005609.4(PYGM):c.1A>C:p.Met1Leu	coding	Pathogenic
11	64759974	T	C	T64759974C	PYGM	NM_005609.4(PYGM):c.-76A>G	noncoding	Benign
11	64789582	C	T	C64789582T	MAP4K2	NM_004579.5(MAP4K2):c.2418G>A:p.Ala806=	coding	Benign
11	64792268	G	A	G64792268A	MAP4K2	NM_004579.5(MAP4K2):c.1818C>T:p.Asn606=	coding	Benign
11	64796285	C	T	C64796285T	MAP4K2	NM_004579.5(MAP4K2):c.1739G>A:p.Arg580His	coding	Benign
11	64802074	C	A	C64802074A	MAP4K2	NM_004579.5(MAP4K2):c.358G>T:p.Ala120Ser	coding	Benign
11	64803540	C	T	C64803540T	MEN1	NM_000244.3(MEN1):c.*794G>A	noncoding	Benign/Likely_benign
11	64804027	A	C	A64804027C	MEN1	NM_000244.3(MEN1):c.*307T>G	noncoding	Benign/Likely_benign
11	64804032	G	A	G64804032A	MEN1	NM_000244.3(MEN1):c.*302C>T	noncoding	Benign/Likely_benign
11	64804149	G	A	G64804149A	MEN1	NM_000244.3(MEN1):c.*185C>T	noncoding	Benign/Likely_benign
11	64804336	A	T	A64804336T	MEN1	NM_000244.3(MEN1):c.1846T>A:p.Ter616Arg	coding	Pathogenic
11	64804480	C	A	C64804480A	MEN1	NM_000244.3(MEN1):c.1702G>T:p.Glu568Ter	coding	Pathogenic
11	64804501	C	A	C64804501A	MEN1	NM_000244.3(MEN1):c.1681G>T:p.Glu561Ter	coding	Pathogenic
11	64804503	C	T	C64804503T	MEN1	NM_001370259.2(MEN1):c.1664G>A:p.Ser555Asn	coding	Pathogenic/Likely_pathogenic
11	64804507	G	A	G64804507A	MEN1	NM_000244.3(MEN1):c.1675C>T:p.Gln559Ter	coding	Pathogenic
11	64804513	T	A	T64804513A	MEN1	NM_000244.3(MEN1):c.1669A>T:p.Thr557Ser	coding	Pathogenic
11	64804529	C	T	C64804529T	MEN1	NM_000244.3(MEN1):c.1653G>A:p.Pro551=	coding	Benign/Likely_benign
11	64804546	T	C	T64804546C	MEN1	NM_001370259.2(MEN1):c.1621A>G:p.Thr541Ala	coding	Benign
11	64804588	G	A	G64804588A	MEN1	NM_000244.3(MEN1):c.1594C>T:p.Arg532Ter	coding	Pathogenic
11	64804618	T	A	T64804618A	MEN1	NM_000244.3(MEN1):c.1564A>T:p.Lys522Ter	coding	Pathogenic
11	64804632	G	C	G64804632C	MEN1	NM_000244.3(MEN1):c.1550C>G:p.Ser517Ter	coding	Pathogenic
11	64804645	G	A	G64804645A	MEN1	NM_001370259.2(MEN1):c.1522C>T:p.Gln508Ter	coding	Pathogenic
11	64804659	C	T	C64804659T	MEN1	NM_000244.3(MEN1):c.1523G>A:p.Gly508Asp	coding	Benign/Likely_benign
11	64804738	C	A	C64804738A	MEN1	NM_000244.3(MEN1):c.1444G>T:p.Glu482Ter	coding	Pathogenic
11	64804754	C	T	C64804754T	MEN1	NM_001370259.2(MEN1):c.1413G>A:p.Trp471Ter	coding	Pathogenic
11	64804755	C	T	C64804755T	MEN1	NM_000244.3(MEN1):c.1427G>A:p.Trp476Ter	coding	Pathogenic
11	64804789	G	A	G64804789A	MEN1	NM_000244.3(MEN1):c.1393C>T:p.Arg465Ter	coding	Pathogenic
11	64804817	C	G	C64804817G	MEN1	NM_000244.3(MEN1):c.1366-1G>C	coding	Pathogenic
11	64804817	C	T	C64804817T	MEN1	NM_000244.3(MEN1):c.1366-1G>A	coding	Pathogenic
11	64805033	C	T	C64805033T	MEN1	NM_000244.3(MEN1):c.1365+1G>A	noncoding	Pathogenic
11	64805036	G	A	G64805036A	MEN1	NM_000244.3(MEN1):c.1363C>T:p.Gln455Ter	coding	Pathogenic
11	64805060	G	A	G64805060A	MEN1	NM_000244.3(MEN1):c.1339C>T:p.Gln447Ter	coding	Pathogenic
11	64805076	C	A	C64805076A	MEN1	NM_000244.3(MEN1):c.1323G>T:p.Trp441Cys	coding	Pathogenic/Likely_pathogenic
11	64805077	C	T	C64805077T	MEN1	NM_000244.3(MEN1):c.1322G>A:p.Trp441Ter	coding	Pathogenic
11	64805078	A	G	A64805078G	MEN1	NM_000244.3(MEN1):c.1321T>C:p.Trp441Arg	coding	Pathogenic
11	64805078	A	T	A64805078T	MEN1	NM_000244.3(MEN1):c.1321T>A:p.Trp441Arg	coding	Pathogenic
11	64805085	A	G	A64805085G	MEN1	NM_001370259.2(MEN1):c.1299T>C:p.His433=	coding	Benign
11	64805114	C	A	C64805114A	MEN1	NM_000244.3(MEN1):c.1285G>T:p.Glu429Ter	coding	Pathogenic
11	64805115	C	T	C64805115T	MEN1	NM_000244.3(MEN1):c.1284G>A:p.Trp428Ter	coding	Pathogenic
11	64805130	G	A	G64805130A	MEN1	NM_001370259.2(MEN1):c.1254C>T:p.Asp418=	coding	Benign
11	64805132	C	A	C64805132A	MEN1	NM_000244.3(MEN1):c.1267G>T:p.Asp423Tyr	coding	Pathogenic
11	64805132	C	G	C64805132G	MEN1	NM_000244.3(MEN1):c.1267G>C:p.Asp423His	coding	Pathogenic/Likely_pathogenic
11	64805132	C	T	C64805132T	MEN1	NM_001370259.2(MEN1):c.1252G>A:p.Asp418Asn	coding	Pathogenic
11	64805141	G	A	G64805141A	MEN1	NM_000244.3(MEN1):c.1258C>T:p.Arg420Ter	coding	Pathogenic
11	64805171	G	A	G64805171A	MEN1	NM_000244.3(MEN1):c.1228C>T:p.Gln410Ter	coding	Pathogenic
11	64805172	G	C	G64805172C	MEN1	NM_000244.3(MEN1):c.1227C>G:p.Leu409=	coding	Benign/Likely_benign
11	64805186	G	A	G64805186A	MEN1	NM_000244.3(MEN1):c.1213C>T:p.Gln405Ter	coding	Pathogenic
11	64805192	G	A	G64805192A	MEN1	NM_000244.3(MEN1):c.1207C>T:p.Gln403Ter	coding	Pathogenic
11	64805643	G	A	G64805643A	MEN1	NM_000244.3(MEN1):c.1192C>T:p.Gln398Ter	coding	Pathogenic
11	64805646	C	A	C64805646A	MEN1	NM_000244.3(MEN1):c.1189G>T:p.Glu397Ter	coding	Pathogenic
11	64805650	C	T	C64805650T	MEN1	NM_000244.3(MEN1):c.1185G>A:p.Pro395=	coding	Benign/Likely_benign
11	64805717	G	T	G64805717T	MEN1	NM_000244.3(MEN1):c.1118C>A:p.Ala373Asp	coding	Pathogenic
11	64805758	G	T	G64805758T	MEN1	NM_000244.3(MEN1):c.1077C>A:p.Cys359Ter	coding	Pathogenic
11	64805767	G	C	G64805767C	MEN1	NM_000244.3(MEN1):c.1068C>G:p.Tyr356Ter	coding	Pathogenic
11	64805772	T	A	T64805772A	MEN1	NM_000244.3(MEN1):c.1065-2A>T	noncoding	Pathogenic
11	64805772	T	C	T64805772C	MEN1	NM_000244.3(MEN1):c.1065-2A>G	noncoding	Pathogenic
11	64806231	C	G	C64806231G	MEN1	NM_000244.3(MEN1):c.1064+1G>C	noncoding	Pathogenic/Likely_pathogenic
11	64806231	C	T	C64806231T	MEN1	NM_000244.3(MEN1):c.1064+1G>A	noncoding	Pathogenic
11	64806259	C	T	C64806259T	MEN1	NM_000244.3(MEN1):c.1037G>A:p.Trp346Ter	coding	Pathogenic
11	64806266	G	A	G64806266A	MEN1	NM_001370259.2(MEN1):c.1015C>T:p.Gln339Ter	coding	Pathogenic
11	64806312	G	C	G64806312C	MEN1	NM_000244.3(MEN1):c.984C>G:p.Tyr328Ter	coding	Pathogenic
11	64806312	G	T	G64806312T	MEN1	NM_000244.3(MEN1):c.984C>A:p.Tyr328Ter	coding	Pathogenic
11	64806322	G	A	G64806322A	MEN1	NM_000244.3(MEN1):c.974C>T:p.Pro325Leu	coding	Pathogenic
11	64806342	A	C	A64806342C	MEN1	NM_000244.3(MEN1):c.954T>G:p.Tyr318Ter	coding	Pathogenic
11	64806345	G	C	G64806345C	MEN1	NM_000244.3(MEN1):c.951C>G:p.Tyr317Ter	coding	Pathogenic
11	64806358	G	T	G64806358T	MEN1	NM_000244.3(MEN1):c.938C>A:p.Ser313Ter	coding	Pathogenic
11	64806369	C	T	C64806369T	MEN1	NM_000244.3(MEN1):c.928-1G>A	coding	Pathogenic/Likely_pathogenic
11	64806370	T	C	T64806370C	MEN1	NM_000244.3(MEN1):c.928-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	64806410	C	G	C64806410G	MEN1	NM_000244.3(MEN1):c.928-42G>C	noncoding	Benign
11	64807009	A	G	A64807009G	MEN1	NM_000244.3(MEN1):c.927+2T>C	noncoding	Pathogenic
11	64807010	C	G	C64807010G	MEN1	NM_000244.3(MEN1):c.927+1G>C	noncoding	Pathogenic/Likely_pathogenic
11	64807010	C	T	C64807010T	MEN1	NM_000244.3(MEN1):c.927+1G>A	noncoding	Pathogenic
11	64807095	G	T	G64807095T	MEN1	NM_000244.3(MEN1):c.843C>A:p.Tyr281Ter	coding	Pathogenic
11	64807178	C	A	C64807178A	MEN1	NM_000244.3(MEN1):c.839+1G>T	noncoding	Pathogenic
11	64807178	C	T	C64807178T	MEN1	NM_000244.3(MEN1):c.839+1G>A	noncoding	Pathogenic
11	64807179	C	T	C64807179T	MEN1	NM_000244.3(MEN1):c.839G>A:p.Arg280Lys	coding	Pathogenic
11	64807208	C	T	C64807208T	MEN1	NM_000244.3(MEN1):c.810G>A:p.Trp270Ter	coding	Pathogenic
11	64807212	A	G	A64807212G	MEN1	NM_001370259.2(MEN1):c.791T>C:p.Leu264Pro	coding	Pathogenic
11	64807220	C	G	C64807220G	MEN1	NM_000244.3(MEN1):c.799-1G>C	coding	Pathogenic/Likely_pathogenic
11	64807221	T	C	T64807221C	MEN1	NM_000244.3(MEN1):c.799-2A>G	noncoding	Pathogenic
11	64807228	C	T	C64807228T	MEN1	NM_001370259.2(MEN1):c.784-9G>A	noncoding	Pathogenic
11	64807551	C	G	C64807551G	MEN1	NM_001370259.2(MEN1):c.783+1G>C	noncoding	Pathogenic
11	64807551	C	T	C64807551T	MEN1	NM_000244.3(MEN1):c.798+1G>A	noncoding	Pathogenic
11	64807554	G	A	G64807554A	MEN1	NM_000244.3(MEN1):c.796C>T:p.Gln266Ter	coding	Pathogenic
11	64807557	G	A	G64807557A	MEN1	NM_000244.3(MEN1):c.793C>T:p.Gln265Ter	coding	Pathogenic
11	64807563	G	A	G64807563A	MEN1	NM_000244.3(MEN1):c.787C>T:p.Gln263Ter	coding	Pathogenic
11	64807572	C	T	C64807572T	MEN1	NM_000244.3(MEN1):c.778G>A:p.Glu260Lys	coding	Pathogenic
11	64807576	C	T	C64807576T	MEN1	NM_000244.3(MEN1):c.774G>A:p.Ser258=	coding	Benign/Likely_benign
11	64807638	T	A	T64807638A	MEN1	NM_000244.3(MEN1):c.712A>T:p.Lys238Ter	coding	Pathogenic
11	64807654	G	T	G64807654T	MEN1	NM_000244.3(MEN1):c.696C>A:p.Tyr232Ter	coding	Pathogenic
11	64807667	A	G	A64807667G	MEN1	NM_000244.3(MEN1):c.683T>C:p.Leu228Pro	coding	Pathogenic/Likely_pathogenic
11	64807669	G	T	G64807669T	MEN1	NM_001370259.2(MEN1):c.666C>A:p.Tyr222Ter	coding	Pathogenic
11	64807675	C	T	C64807675T	MEN1	NM_000244.3(MEN1):c.675G>A:p.Trp225Ter	coding	Pathogenic
11	64807676	C	T	C64807676T	MEN1	NM_000244.3(MEN1):c.674G>A:p.Trp225Ter	coding	Pathogenic
11	64807681	C	G	C64807681G	MEN1	NM_001370259.2(MEN1):c.655-1G>C	coding	Pathogenic
11	64807681	C	T	C64807681T	MEN1	NM_000244.3(MEN1):c.670-1G>A	coding	Pathogenic
11	64807890	C	A	C64807890A	MEN1	NM_001370259.2(MEN1):c.654+1G>T	noncoding	Pathogenic
11	64807890	C	T	C64807890T	MEN1	NM_000244.3(MEN1):c.669+1G>A	noncoding	Pathogenic
11	64807920	G	A	G64807920A	MEN1	NM_000244.3(MEN1):c.640C>T:p.Gln214Ter	coding	Pathogenic
11	64807944	T	A	T64807944A	MEN1	NM_001370259.2(MEN1):c.601A>T:p.Lys201Ter	coding	Pathogenic
11	64807948	G	A	G64807948A	MEN1	NM_000244.3(MEN1):c.612C>T:p.His204=	coding	Benign/Likely_benign
11	64807951	C	T	C64807951T	MEN1	NM_000244.3(MEN1):c.609G>A:p.Trp203Ter	coding	Pathogenic
11	64807952	C	T	C64807952T	MEN1	NM_000244.3(MEN1):c.608G>A:p.Trp203Ter	coding	Pathogenic
11	64807954	G	C	G64807954C	MEN1	NM_000244.3(MEN1):c.606C>G:p.Thr202=	coding	Benign
11	64807994	A	T	A64807994T	MEN1	NM_000244.3(MEN1):c.566T>A:p.Val189Glu	coding	Pathogenic
11	64807997	C	T	C64807997T	MEN1	NM_000244.3(MEN1):c.563G>A:p.Trp188Ter	coding	Pathogenic
11	64808031	C	A	C64808031A	MEN1	NM_000244.3(MEN1):c.529G>T:p.Asp177Tyr	coding	Pathogenic/Likely_pathogenic
11	64808042	A	G	A64808042G	MEN1	NM_000244.3(MEN1):c.518T>C:p.Leu173Pro	coding	Pathogenic
11	64808049	G	A	G64808049A	MEN1	NM_000244.3(MEN1):c.511C>T:p.Gln171Ter	coding	Pathogenic
11	64808050	G	T	G64808050T	MEN1	NM_000244.3(MEN1):c.510C>A:p.Cys170Ter	coding	Pathogenic
11	64808067	C	G	C64808067G	MEN1	NM_000244.3(MEN1):c.493G>C:p.Ala165Pro	coding	Pathogenic
11	64808100	C	G	C64808100G	MEN1	NM_000244.3(MEN1):c.461-1G>C	coding	Pathogenic
11	64808100	C	T	C64808100T	MEN1	NM_000244.3(MEN1):c.461-1G>A	coding	Pathogenic
11	64808101	T	C	T64808101C	MEN1	NM_000244.3(MEN1):c.461-2A>G	noncoding	Pathogenic
11	64808101	T	G	T64808101G	MEN1	NM_000244.3(MEN1):c.461-2A>C	noncoding	Pathogenic
11	64809675	G	A	G64809675A	MEN1	NM_000244.3(MEN1):c.435C>T:p.Ser145=	coding	Benign
11	64809689	G	A	G64809689A	MEN1	NM_000244.3(MEN1):c.421C>T:p.Gln141Ter	coding	Pathogenic
11	64809694	T	C	T64809694C	MEN1	NM_000244.3(MEN1):c.416A>G:p.His139Arg	coding	Pathogenic
11	64809695	G	C	G64809695C	MEN1	NM_000244.3(MEN1):c.415C>G:p.His139Asp	coding	Pathogenic
11	64809707	T	A	T64809707A	MEN1	NM_000244.3(MEN1):c.403A>T:p.Lys135Ter	coding	Pathogenic
11	64809732	C	T	C64809732T	MEN1	NM_000244.3(MEN1):c.378G>A:p.Trp126Ter	coding	Pathogenic
11	64809752	T	A	T64809752A	MEN1	NM_000244.3(MEN1):c.358A>T:p.Lys120Ter	coding	Pathogenic
11	64809764	C	A	C64809764A	MEN1	NM_000244.3(MEN1):c.346G>T:p.Glu116Ter	coding	Pathogenic
11	64809788	G	A	G64809788A	MEN1	NM_000244.3(MEN1):c.322C>T:p.Arg108Ter	coding	Pathogenic
11	64809792	A	T	A64809792T	MEN1	NM_000244.3(MEN1):c.318T>A:p.Tyr106Ter	coding	Pathogenic
11	64809818	G	A	G64809818A	MEN1	NM_000244.3(MEN1):c.292C>T:p.Arg98Ter	coding	Pathogenic
11	64809840	A	T	A64809840T	MEN1	NM_000244.3(MEN1):c.270T>A:p.Tyr90Ter	coding	Pathogenic
11	64809879	G	C	G64809879C	MEN1	NM_000244.3(MEN1):c.231C>G:p.Tyr77Ter	coding	Pathogenic
11	64809976	T	C	T64809976C	MEN1	NM_000244.3(MEN1):c.134A>G:p.Glu45Gly	coding	Pathogenic
11	64810025	G	A	G64810025A	MEN1	NM_000244.3(MEN1):c.85C>T:p.Arg29Ter	coding	Pathogenic
11	64810107	C	T	C64810107T	MEN1	NM_000244.3(MEN1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
11	64810109	T	A	T64810109A	MEN1	NM_000244.3(MEN1):c.1A>T:p.Met1Leu	coding	Pathogenic
11	64810109	T	C	T64810109C	MEN1	NM_000244.3(MEN1):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
11	64810109	T	G	T64810109G	MEN1	NM_001370259.2(MEN1):c.1A>C:p.Met1Leu	coding	Pathogenic
11	64810129	C	T	C64810129T	MEN1	NM_000244.3(MEN1):c.-20G>A	noncoding	Benign/Likely_benign
11	64810148	G	C	G64810148C	MEN1	NM_000244.3(MEN1):c.-23-16C>G	noncoding	Benign
11	64810641	T	A	T64810641A	MEN1	NM_000244.3(MEN1):c.-35A>T	noncoding	Benign
11	64810641	T	G	T64810641G	MEN1	NM_000244.3(MEN1):c.-35A>C	noncoding	Benign
11	64810823	A	T	A64810823T	MEN1	NM_130799.2(MEN1):c.-217T>A	noncoding	Benign
11	64829667	C	T	C64829667T	CDC42BPG	NM_017525.3(CDC42BPG):c.3771G>A:p.Pro1257=	coding	Benign
11	64836514	C	G	C64836514G	CDC42BPG	NM_017525.3(CDC42BPG):c.1401G>C:p.Lys467Asn	coding	Benign
11	64840191	C	T	C64840191T	CDC42BPG	NM_017525.3(CDC42BPG):c.510G>A:p.Glu170=	coding	Benign
11	64841834	G	A	G64841834A	CDC42BPG	NM_017525.3(CDC42BPG):c.231C>T:p.Ile77=	coding	Benign
11	64854546	G	A	G64854546A	EHD1	NM_006795.4(EHD1):c.1392C>T:p.Gly464=	coding	Benign
11	64855313	C	T	C64855313T	EHD1	NM_006795.4(EHD1):c.1080+9G>A	noncoding	Benign
11	64860020	G	C	G64860020C	EHD1	NM_006795.4(EHD1):c.819C>G:p.Ala273=	coding	Benign
11	64860280	G	A	G64860280A	EHD1	NM_006795.4(EHD1):c.559C>T:p.Leu187=	coding	Benign
11	64878123	G	C	G64878123C	EHD1	NM_006795.4(EHD1):c.342C>G:p.Leu114=	coding	Benign
11	64895397	C	T	C64895397T	ATG2A	NM_015104.3(ATG2A):c.5473G>A:p.Val1825Ile	coding	Benign
11	64907602	G	A	G64907602A	ATG2A	NM_015104.3(ATG2A):c.2570C>T:p.Ala857Val	coding	Benign
11	64907655	G	A	G64907655A	ATG2A	NM_015104.3(ATG2A):c.2517C>T:p.Asn839=	coding	Benign
11	64909798	C	T	C64909798T	ATG2A	NM_015104.3(ATG2A):c.1990G>A:p.Val664Met	coding	Benign
11	64912376	C	G	C64912376G	ATG2A	NM_015104.3(ATG2A):c.873G>C:p.Pro291=	coding	Benign
11	65014251	G	T	G65014251T	ARL2	NM_001667.4(ARL2):c.44G>T:p.Arg15Leu	coding	Pathogenic
11	65079496	C	T	C65079496T	CDCA5	NM_080668.4(CDCA5):c.535G>A:p.Gly179Arg	coding	Benign
11	65079512	C	T	C65079512T	CDCA5	NM_080668.4(CDCA5):c.519G>A:p.Gly173=	coding	Benign
11	65079664	C	T	C65079664T	CDCA5	NM_080668.4(CDCA5):c.367G>A:p.Glu123Lys	coding	Benign
11	65079671	A	T	A65079671T	CDCA5	NM_080668.4(CDCA5):c.360T>A:p.Pro120=	coding	Benign
11	65079716	T	C	T65079716C	CDCA5	NM_080668.4(CDCA5):c.315A>G:p.Thr105=	coding	Benign
11	65109304	C	T	C65109304T	VPS51	NM_013265.4(VPS51):c.1468C>T:p.Arg490Cys	coding	Pathogenic
11	65110475	C	T	C65110475T	VPS51	NM_013265.4(VPS51):c.1879-7C>T	noncoding	Benign
11	65115549	C	T	C65115549T	TM7SF2	NM_003273.5(TM7SF2):c.1047C>T:p.Pro349=	coding	Benign
11	65117464	G	A	G65117464A	ZNHIT2	NM_014205.4(ZNHIT2):c.190C>T:p.Leu64=	coding	Benign
11	65117630	G	A	G65117630A	ZNHIT2	NM_014205.4(ZNHIT2):c.24C>T:p.Gly8=	coding	Benign
11	65130692	T	G	T65130692G	SYVN1	NM_172230.3(SYVN1):c.1073A>C:p.His358Pro	coding	Benign
11	65130757	T	C	T65130757C	SYVN1	NM_172230.3(SYVN1):c.1008A>G:p.Ala336=	coding	Benign
11	65182860	G	A	G65182860A	CAPN1	NM_005186.4(CAPN1):c.159G>A:p.Gly53=	coding	Benign
11	65182905	G	C	G65182905C	CAPN1	NM_005186.4(CAPN1):c.204G>C:p.Leu68=	coding	Benign
11	65183167	A	G	A65183167G	CAPN1	NM_005186.4(CAPN1):c.307A>G:p.Thr103Ala	coding	Benign
11	65183473	G	A	G65183473A	CAPN1	NM_005186.4(CAPN1):c.338-1G>A	noncoding	Pathogenic
11	65185943	C	T	C65185943T	CAPN1	NM_005186.4(CAPN1):c.483C>T:p.Asp161=	coding	Benign
11	65186339	G	A	G65186339A	CAPN1	NM_005186.4(CAPN1):c.759+1G>A	coding	Pathogenic
11	65186339	G	T	G65186339T	CAPN1	NM_005186.4(CAPN1):c.759+1G>T	coding	Pathogenic
11	65187964	C	T	C65187964T	CAPN1	NM_005186.4(CAPN1):c.853C>T:p.Arg285Ter	coding	Pathogenic
11	65187995	G	C	G65187995C	CAPN1	NM_005186.4(CAPN1):c.884G>C:p.Arg295Pro	coding	Pathogenic
11	65188733	C	T	C65188733T	CAPN1	NM_005186.4(CAPN1):c.1152C>T:p.Cys384=	coding	Benign
11	65204693	G	A	G65204693A	CAPN1	NM_005186.4(CAPN1):c.1176G>A:p.Trp392Ter	coding	Pathogenic
11	65204837	T	A	T65204837A	CAPN1	NM_005186.4(CAPN1):c.1320T>A:p.Thr440=	coding	Benign
11	65206643	C	T	C65206643T	CAPN1	NM_005186.4(CAPN1):c.1534C>T:p.Arg512Cys	coding	Pathogenic
11	65206793	C	T	C65206793T	CAPN1	NM_005186.4(CAPN1):c.1579C>T:p.Gln527Ter	coding	Pathogenic
11	65209360	G	A	G65209360A	CAPN1	NM_005186.4(CAPN1):c.1767G>A:p.Ser589=	coding	Benign
11	65210013	C	T	C65210013T	CAPN1	NM_005186.4(CAPN1):c.1864-5C>T	noncoding	Benign
11	65210068	C	T	C65210068T	CAPN1	NM_005186.4(CAPN1):c.1914C>T:p.Tyr638=	coding	Benign
11	65210419	G	A	G65210419A	CAPN1	NM_005186.4(CAPN1):c.2026G>A:p.Val676Ile	coding	Benign
11	65321177	G	C	G65321177C	CDC42EP2	NM_006779.4(CDC42EP2):c.279G>C:p.Gly93=	coding	Benign
11	65345981	G	T	G65345981T	DPF2	NM_006268.5(DPF2):c.827G>T:p.Cys276Phe	coding	Pathogenic
11	65346059	G	A	G65346059A	DPF2	NM_006268.5(DPF2):c.904+1G>A	coding	Pathogenic
11	65346332	C	G	C65346332G	DPF2	NM_006268.5(DPF2):c.990C>G:p.Cys330Trp	coding	Pathogenic
11	65348869	A	G	A65348869G	DPF2	NM_006268.5(DPF2):c.1037A>G:p.Asp346Gly	coding	Pathogenic
11	65348932	G	A	G65348932A	DPF2	NM_006268.5(DPF2):c.1099+1G>A	coding	Pathogenic
11	65525631	C	T	C65525631T	SCYL1	NM_020680.4(SCYL1):c.169C>T:p.Gln57Ter	coding	Pathogenic
11	65525924	G	T	G65525924T	SCYL1	NM_020680.4(SCYL1):c.256G>T:p.Glu86Ter	coding	Pathogenic
11	65525982	C	T	C65525982T	SCYL1	NM_020680.4(SCYL1):c.314C>T:p.Ala105Val	coding	Pathogenic
11	65525983	G	A	G65525983A	SCYL1	NM_020680.4(SCYL1):c.315G>A:p.Ala105=	coding	Benign
11	65526041	G	A	G65526041A	SCYL1	NM_020680.4(SCYL1):c.373G>A:p.Val125Met	coding	Benign
11	65526243	G	A	G65526243A	SCYL1	NM_020680.4(SCYL1):c.495G>A:p.Ser165=	coding	Benign
11	65526274	A	T	A65526274T	SCYL1	NM_020680.4(SCYL1):c.526A>T:p.Lys176Ter	coding	Pathogenic
11	65531606	C	T	C65531606T	SCYL1	NM_020680.4(SCYL1):c.1039C>T:p.Gln347Ter	coding	Pathogenic
11	65531677	G	A	G65531677A	SCYL1	NM_020680.4(SCYL1):c.1110G>A:p.Leu370=	coding	Benign
11	65532806	G	A	G65532806A	SCYL1	NM_020680.4(SCYL1):c.1230+1G>A	coding	Pathogenic
11	65535949	G	A	G65535949A	SCYL1	NM_020680.4(SCYL1):c.1387-4G>A	noncoding	Benign
11	65535999	A	G	A65535999G	SCYL1	NM_020680.4(SCYL1):c.1433A>G:p.Asp478Gly	coding	Pathogenic
11	65536319	C	T	C65536319T	SCYL1	NM_020680.4(SCYL1):c.1636C>T:p.Gln546Ter	coding	Pathogenic
11	65536653	C	T	C65536653T	SCYL1	NM_020680.4(SCYL1):c.1719C>T:p.Ala573=	coding	Benign
11	65536759	C	T	C65536759T	SCYL1	NM_020680.4(SCYL1):c.1816+9C>T	noncoding	Benign
11	65537049	C	T	C65537049T	SCYL1	NM_020680.4(SCYL1):c.1880C>T:p.Thr627Met	coding	Benign
11	65537051	C	T	C65537051T	SCYL1	NM_020680.4(SCYL1):c.1882C>T:p.Gln628Ter	coding	Pathogenic
11	65537838	G	T	G65537838T	SCYL1	NM_020680.4(SCYL1):c.1989G>T:p.Gln663His	coding	Benign/Likely_benign
11	65537979	G	A	G65537979A	SCYL1	NM_020680.4(SCYL1):c.2044G>A:p.Asp682Asn	coding	Benign
11	65538005	G	A	G65538005A	SCYL1	NM_020680.4(SCYL1):c.2070G>A:p.Glu690=	coding	Benign
11	65538134	C	T	C65538134T	SCYL1	NM_020680.4(SCYL1):c.2199C>T:p.Ser733=	coding	Benign
11	65539080	T	A	T65539080A	LTBP3	NM_021070.4(LTBP3):c.3771A>T:p.Ter1257Cys	coding	Pathogenic
11	65539603	G	A	G65539603A	LTBP3	NM_001130144.2(LTBP3):c.3573C>T:p.Ser1191=	coding	Benign
11	65539637	A	G	A65539637G	LTBP3	NM_001130144.2(LTBP3):c.3548-9T>C	noncoding	Benign
11	65539748	T	C	T65539748C	LTBP3	NM_001130144.2(LTBP3):c.3519A>G:p.Gln1173=	coding	Benign
11	65539832	G	A	G65539832A	LTBP3	NM_001130144.2(LTBP3):c.3435C>T:p.Asp1145=	coding	Benign
11	65540034	G	A	G65540034A	LTBP3	NM_001130144.2(LTBP3):c.3364C>T:p.Gln1122Ter	coding	Pathogenic
11	65540580	A	G	A65540580G	LTBP3	NM_001130144.2(LTBP3):c.3012T>C:p.Ile1004=	coding	Benign
11	65541130	G	A	G65541130A	LTBP3	NM_001130144.2(LTBP3):c.2889C>T:p.Ser963=	coding	Benign
11	65546473	G	C	G65546473C	LTBP3	NM_021070.4(LTBP3):c.2322C>G:p.Tyr774Ter	coding	Pathogenic
11	65546547	C	A	C65546547A	LTBP3	NM_021070.4(LTBP3):c.2248G>T:p.Glu750Ter	coding	Pathogenic
11	65546806	G	C	G65546806C	LTBP3	NM_001130144.2(LTBP3):c.2222C>G:p.Ala741Gly	coding	Benign
11	65547915	C	T	C65547915T	LTBP3	NM_021070.4(LTBP3):c.1846+5G>A	noncoding	Pathogenic
11	65551971	C	A	C65551971A	LTBP3	NM_021070.4(LTBP3):c.1531+1G>T	noncoding	Pathogenic
11	65552909	A	G	A65552909G	LTBP3	NM_001130144.2(LTBP3):c.1137T>C:p.Cys379=	coding	Benign
11	65552969	G	A	G65552969A	LTBP3	NM_001130144.2(LTBP3):c.1077C>T:p.Cys359=	coding	Benign
11	65552992	G	A	G65552992A	LTBP3	NM_001130144.2(LTBP3):c.1064-10C>T	noncoding	Benign
11	65553761	G	A	G65553761A	LTBP3	NM_001130144.2(LTBP3):c.804C>T:p.Pro268=	coding	Benign
11	65554291	G	A	G65554291A	LTBP3	NM_021070.4(LTBP3):c.421C>T:p.Gln141Ter	coding	Pathogenic
11	65570520	T	C	T65570520C	ZNRD2	NM_006396.3(ZNRD2):c.19+10T>C	coding	Benign
11	65570646	C	T	C65570646T	ZNRD2	NM_006396.3(ZNRD2):c.62C>T:p.Thr21Met	coding	Benign
11	65593838	T	C	T65593838C	KCNK7	NM_033347.2(KCNK7):c.356A>G:p.Lys119Arg	coding	Benign
11	65593867	G	A	G65593867A	KCNK7	NM_033347.2(KCNK7):c.327C>T:p.Gly109=	coding	Benign
11	65641237	G	T	G65641237T	SIPA1	NM_006747.4(SIPA1):c.316G>T:p.Ala106Ser	coding	Benign
11	65645074	C	T	C65645074T	SIPA1	NM_006747.4(SIPA1):c.1104C>T:p.Gly368=	coding	Benign
11	65649380	C	T	C65649380T	SIPA1	NM_006747.4(SIPA1):c.2425C>T:p.His809Tyr	coding	Benign
11	65649965	G	T	G65649965T	SIPA1	NM_006747.4(SIPA1):c.2762G>T:p.Gly921Val	coding	Benign
11	65654381	G	A	G65654381A	RELA	NM_021975.4(RELA):c.1653C>T:p.Ser551=	coding	Benign
11	65658293	C	T	C65658293T	RELA	NM_021975.4(RELA):c.871G>A:p.Asp291Asn	coding	Benign
11	65658458	G	A	G65658458A	RELA	NM_021975.4(RELA):c.706C>T:p.Arg236Ter	coding	Pathogenic
11	65659665	C	T	C65659665T	RELA	NM_021975.4(RELA):c.559+1G>A	noncoding	Pathogenic
11	65659769	G	A	G65659769A	RELA	NM_021975.4(RELA):c.456C>T:p.Tyr152=	coding	Benign
11	65712785	C	T	C65712785T	KAT5	NM_182710.3(KAT5):c.198C>T:p.Ser66=	coding	Benign
11	65717686	G	A	G65717686A	RNASEH2C	NM_182710.3(KAT5):c.1264+704G>A	coding	Benign
11	65717747	G	A	G65717747A	RNASEH2C	NM_182710.3(KAT5):c.1264+765G>A	coding	Benign
11	65717866	A	G	A65717866G	RNASEH2C	NM_182710.3(KAT5):c.1265-724A>G	coding	Benign
11	65718007	G	A	G65718007A	RNASEH2C	NM_182710.3(KAT5):c.1265-583G>A	coding	Benign
11	65718162	T	C	T65718162C	RNASEH2C	NM_182710.3(KAT5):c.1265-428T>C	coding	Benign
11	65718256	T	G	T65718256G	RNASEH2C	NM_182710.3(KAT5):c.1265-334T>G	coding	Benign
11	65718488	A	G	A65718488G	RNASEH2C	NM_182710.3(KAT5):c.1265-102A>G	coding	Benign
11	65718776	G	C	G65718776C	RNASEH2C	NM_032193.4(RNASEH2C):c.*1007C>G	coding	Benign
11	65719211	G	A	G65719211A	RNASEH2C	NM_032193.4(RNASEH2C):c.*572C>T	noncoding	Benign
11	65720062	G	A	G65720062A	RNASEH2C	NM_032193.3(RNASEH2C):c.451C>T:p.Pro151Ser	coding	Pathogenic
11	65720063	C	T	C65720063T	RNASEH2C	NM_032193.3(RNASEH2C):c.450G>A:p.Trp150Ter	coding	Pathogenic
11	65720085	T	A	T65720085A	RNASEH2C	NM_032193.3(RNASEH2C):c.428A>T:p.Lys143Ile	coding	Pathogenic
11	65720385	G	A	G65720385A	RNASEH2C	NM_032193.3(RNASEH2C):c.205C>T:p.Arg69Trp	coding	Pathogenic/Likely_pathogenic
11	65720392	G	A	G65720392A	RNASEH2C	NM_032193.4(RNASEH2C):c.198C>T:p.Arg66=	coding	Benign
11	65720698	A	G	A65720698G	RNASEH2C	NM_032193.3(RNASEH2C):c.61T>C:p.Leu21=	coding	Benign
11	65720768	T	C	T65720768C	RNASEH2C	NM_032193.3(RNASEH2C):c.-10A>G	noncoding	Benign/Likely_benign
11	65864502	G	A	G65864502A	EFEMP2	NM_025128.5(MUS81):c.1065G>A:p.Arg355=	coding	Benign
11	65864605	A	C	A65864605C	MUS81	NM_025128.5(MUS81):c.1168A>C:p.Asn390His	coding	Benign
11	65864791	G	T	G65864791T	EFEMP2	NM_025128.5(MUS81):c.1248G>T:p.Thr416=	coding	Benign
11	65865227	C	T	C65865227T	MUS81	NM_025128.5(MUS81):c.1409C>T:p.Ser470Leu	coding	Benign
11	65866515	G	C	G65866515C	EFEMP2	NM_016938.5(EFEMP2):c.*403C>G	noncoding	Benign
11	65867024	C	T	C65867024T	EFEMP2	NM_016938.5(EFEMP2):c.1226G>A:p.Arg409Gln	coding	Benign
11	65867061	C	T	C65867061T	EFEMP2	NM_016938.5(EFEMP2):c.1189G>A:p.Ala397Thr	coding	Pathogenic
11	65868041	C	T	C65868041T	EFEMP2	NM_016938.5(EFEMP2):c.990G>A:p.Pro330=	coding	Benign
11	65868408	A	T	A65868408T	EFEMP2	NM_016938.5(EFEMP2):c.861T>A:p.Cys287Ter	coding	Pathogenic
11	65868522	G	A	G65868522A	EFEMP2	NM_016938.5(EFEMP2):c.835C>T:p.Arg279Cys	coding	Pathogenic
11	65868557	C	T	C65868557T	EFEMP2	NM_016938.5(EFEMP2):c.800G>A:p.Cys267Tyr	coding	Pathogenic
11	65868582	T	C	T65868582C	EFEMP2	NM_016938.5(EFEMP2):c.775A>G:p.Ile259Val	coding	Benign
11	65868619	C	T	C65868619T	EFEMP2	NM_016938.5(EFEMP2):c.738G>A:p.Glu246=	coding	Benign/Likely_benign
11	65869605	T	C	T65869605C	EFEMP2	NM_016938.5(EFEMP2):c.727+252A>G	noncoding	Benign
11	65869905	G	A	G65869905A	EFEMP2	NM_016938.5(EFEMP2):c.679C>T:p.Arg227Cys	coding	Pathogenic
11	65869976	T	G	T65869976G	EFEMP2	NM_016938.5(EFEMP2):c.608A>C:p.Asp203Ala	coding	Pathogenic
11	65870229	C	A	C65870229A	EFEMP2	NM_016938.5(EFEMP2):c.499G>T:p.Glu167Ter	coding	Pathogenic
11	65870513	C	G	C65870513G	EFEMP2	NM_016938.5(EFEMP2):c.490+23G>C	noncoding	Benign
11	65870545	C	T	C65870545T	EFEMP2	NM_016938.5(EFEMP2):c.481G>A:p.Glu161Lys	coding	Pathogenic
11	65870649	T	A	T65870649A	EFEMP2	NM_016938.5(EFEMP2):c.377A>T:p.Glu126Val	coding	Pathogenic
11	65870650	C	T	C65870650T	EFEMP2	NM_016938.5(EFEMP2):c.376G>A:p.Glu126Lys	coding	Pathogenic
11	65870662	C	T	C65870662T	EFEMP2	NM_016938.5(EFEMP2):c.368-4G>A	noncoding	Benign/Likely_benign
11	65871248	G	A	G65871248A	EFEMP2	NM_016938.5(EFEMP2):c.276C>T:p.His92=	coding	Benign
11	65871355	C	T	C65871355T	EFEMP2	NM_016938.5(EFEMP2):c.169G>A:p.Glu57Lys	coding	Pathogenic
11	65871373	G	A	G65871373A	EFEMP2	NM_016938.5(EFEMP2):c.161-10C>T	noncoding	Benign/Likely_benign
11	65871992	G	A	G65871992A	EFEMP2	NM_016938.5(EFEMP2):c.138C>T:p.Asp46=	coding	Benign/Likely_benign
11	65872733	C	T	C65872733T	EFEMP2	NM_016938.5(EFEMP2):c.-58G>A	noncoding	Benign
11	65884018	T	C	T65884018C	FIBP	NM_004214.5(FIBP):c.1030A>G:p.Met344Val	coding	Benign
11	65884053	C	T	C65884053T	FIBP	NM_004214.5(FIBP):c.1005-10G>A	noncoding	Benign
11	65884579	G	A	G65884579A	FIBP	NM_004214.5(FIBP):c.897C>T:p.Leu299=	coding	Benign
11	65885113	T	A	T65885113A	FIBP	NM_004214.5(FIBP):c.720A>T:p.Leu240=	coding	Benign
11	65885181	G	A	G65885181A	FIBP	NM_004214.5(FIBP):c.652C>T:p.Gln218Ter	coding	Pathogenic/Likely_pathogenic
11	65885531	G	A	G65885531A	FIBP	NM_004214.5(FIBP):c.645C>T:p.Val215=	coding	Benign
11	65887999	C	A	C65887999A	FIBP	NM_004214.5(FIBP):c.219G>T:p.Pro73=	coding	Benign/Likely_benign
11	65888068	C	G	C65888068G	FIBP	NM_004214.5(FIBP):c.150G>C:p.Ala50=	coding	Benign
11	65892907	A	G	A65892907G	FOSL1	NM_005438.5(FOSL1):c.795T>C:p.Ser265=	coding	Benign
11	65893129	G	T	G65893129T	FOSL1	NM_005438.5(FOSL1):c.573C>A:p.Ser191Arg	coding	Benign
11	65893177	C	T	C65893177T	FOSL1	NM_005438.5(FOSL1):c.525G>A:p.Pro175=	coding	Benign
11	65919785	G	A	G65919785A	DRAP1	NM_006442.4(DRAP1):c.48G>A:p.Arg16=	coding	Benign
11	66002309	T	G	T66002309G	BANF1	NM_001143985.1(BANF1):c.-221T>G	noncoding	Benign
11	66002338	G	C	G66002338C	BANF1	NM_001143985.1(BANF1):c.-192G>C	noncoding	Benign
11	66003284	G	A	G66003284A	BANF1	NM_003860.4(BANF1):c.34G>A:p.Ala12Thr	coding	Pathogenic
11	66003706	C	T	C66003706T	BANF1	NM_003860.4(BANF1):c.204C>T:p.Gly68=	coding	Benign
11	66003900	C	A	C66003900A	BANF1	NM_003860.4(BANF1):c.*128C>A	noncoding	Benign
11	66003949	G	A	G66003949A	BANF1	NM_003860.4(BANF1):c.*177G>A	noncoding	Benign
11	66012946	C	T	C66012946T	CST6	NM_001323.4(CST6):c.361C>T:p.Gln121Ter	coding	Pathogenic
11	66020195	G	A	G66020195A	CATSPER1	NM_053054.4(CATSPER1):c.2070C>T:p.Ala690=	coding	Benign
11	66020601	C	T	C66020601T	CATSPER1	NM_053054.4(CATSPER1):c.1954G>A:p.Val652Ile	coding	Benign
11	66021536	G	A	G66021536A	CATSPER1	NM_053054.4(CATSPER1):c.1651C>T:p.Leu551=	coding	Benign/Likely_benign
11	66021842	G	A	G66021842A	CATSPER1	NM_053054.4(CATSPER1):c.1467C>T:p.Cys489=	coding	Benign/Likely_benign
11	66022988	G	A	G66022988A	CATSPER1	NM_053054.4(CATSPER1):c.1290C>T:p.Thr430=	coding	Benign
11	66023056	G	T	G66023056T	CATSPER1	NM_053054.4(CATSPER1):c.1222C>A:p.Arg408=	coding	Benign
11	66025323	C	T	C66025323T	CATSPER1	NM_053054.4(CATSPER1):c.1057G>A:p.Val353Ile	coding	Benign/Likely_benign
11	66025497	G	A	G66025497A	CATSPER1	NM_053054.4(CATSPER1):c.883C>T:p.Arg295Trp	coding	Benign/Likely_benign
11	66025650	C	T	C66025650T	CATSPER1	NM_053054.4(CATSPER1):c.730G>A:p.Gly244Arg	coding	Benign
11	66025983	C	T	C66025983T	CATSPER1	NM_053054.4(CATSPER1):c.397G>A:p.Gly133Ser	coding	Benign
11	66026326	G	A	G66026326A	CATSPER1	NM_053054.4(CATSPER1):c.54C>T:p.Asn18=	coding	Benign
11	66026471	A	G	A66026471G	CATSPER1	NM_053054.4(CATSPER1):c.-92T>C	noncoding	Benign
11	66043569	C	G	C66043569G	GAL3ST3	NM_033036.3(GAL3ST3):c.234G>C:p.Thr78=	coding	Benign
11	66052460	G	T	G66052460T	SF3B2	NM_006842.3(SF3B2):c.76G>T:p.Ala26Ser	coding	Benign
11	66070588	G	A	G66070588A	PACS1	NM_018026.4(PACS1):c.102G>A:p.Pro34=	coding	Benign
11	66211130	G	A	G66211130A	PACS1	NM_018026.4(PACS1):c.535-4G>A	noncoding	Benign/Likely_benign
11	66211206	C	T	C66211206T	PACS1	NM_018026.4(PACS1):c.607C>T:p.Arg203Trp	coding	Pathogenic
11	66216114	C	G	C66216114G	PACS1	NM_018026.4(PACS1):c.661-5C>G	noncoding	Benign/Likely_benign
11	66216142	C	T	C66216142T	PACS1	NM_018026.4(PACS1):c.684C>T:p.Gly228=	coding	Benign
11	66216572	A	C	A66216572C	PACS1	NM_018026.4(PACS1):c.858A>C:p.Ser286=	coding	Benign
11	66216620	C	G	C66216620G	PACS1	NM_018026.4(PACS1):c.897+9C>G	noncoding	Benign
11	66216754	C	G	C66216754G	PACS1	NM_018026.4(PACS1):c.957C>G:p.Thr319=	coding	Benign
11	66220801	C	G	C66220801G	PACS1	NM_018026.4(PACS1):c.1199+10C>G	noncoding	Benign
11	66230931	C	T	C66230931T	PACS1	NM_018026.4(PACS1):c.1617C>T:p.His539=	coding	Benign/Likely_benign
11	66233915	A	C	A66233915C	PACS1	NM_018026.4(PACS1):c.1969A>C:p.Met657Leu	coding	Benign
11	66234199	T	A	T66234199A	PACS1	NM_018026.4(PACS1):c.2061T>A:p.Ser687=	coding	Benign
11	66239224	C	T	C66239224T	PACS1	NM_018026.4(PACS1):c.2376C>T:p.Ala792=	coding	Benign
11	66241451	C	T	C66241451T	PACS1	NM_018026.4(PACS1):c.2454C>T:p.Asp818=	coding	Benign/Likely_benign
11	66243162	T	C	T66243162C	PACS1	NM_018026.4(PACS1):c.2777-3T>C	noncoding	Benign
11	66258720	G	A	G66258720A	KLC2	NM_001318734.2(KLC2):c.126G>A:p.Leu42=	coding	Benign
11	66261804	G	A	G66261804A	KLC2	NM_001318734.2(KLC2):c.291G>A:p.Ala97=	coding	Benign
11	66262117	T	C	T66262117C	KLC2	NM_001318734.2(KLC2):c.460-6T>C	noncoding	Benign
11	66263931	G	A	G66263931A	KLC2	NM_001318734.2(KLC2):c.921G>A:p.Arg307=	coding	Benign
11	66265178	G	A	G66265178A	KLC2	NM_001318734.2(KLC2):c.1277G>A:p.Arg426Gln	coding	Benign
11	66265209	C	T	C66265209T	KLC2	NM_001318734.2(KLC2):c.1308C>T:p.Ser436=	coding	Benign
11	66278477	G	A	G66278477A	CNIH2	NM_182553.3(CNIH2):c.21G>A:p.Ala7=	coding	Benign
11	66314997	G	A	G66314997A	CD248	NM_020404.3(CD248):c.2031C>T:p.Ala677=	coding	Benign
11	66315234	G	A	G66315234A	CD248	NM_020404.3(CD248):c.1794C>T:p.Ser598=	coding	Benign
11	66315321	G	C	G66315321C	CD248	NM_020404.3(CD248):c.1707C>G:p.Ala569=	coding	Benign
11	66315572	C	T	C66315572T	CD248	NM_020404.3(CD248):c.1456G>A:p.Ala486Thr	coding	Benign
11	66315573	G	A	G66315573A	CD248	NM_020404.3(CD248):c.1455C>T:p.Ile485=	coding	Benign
11	66315687	G	A	G66315687A	CD248	NM_020404.3(CD248):c.1341C>T:p.Val447=	coding	Benign
11	66315792	C	T	C66315792T	CD248	NM_020404.3(CD248):c.1236G>A:p.Pro412=	coding	Benign
11	66315798	A	G	A66315798G	CD248	NM_020404.3(CD248):c.1230T>C:p.Tyr410=	coding	Benign
11	66315891	G	A	G66315891A	CD248	NM_020404.3(CD248):c.1137C>T:p.Asp379=	coding	Benign
11	66316725	G	A	G66316725A	CD248	NM_020404.3(CD248):c.303C>T:p.Arg101=	coding	Benign
11	66316773	G	A	G66316773A	CD248	NM_020404.3(CD248):c.255C>T:p.Ile85=	coding	Benign
11	66332417	C	T	C66332417T	RIN1	NM_004292.3(RIN1):c.2211G>A:p.Gly737=	coding	Benign
11	66332530	C	T	C66332530T	RIN1	NM_004292.3(RIN1):c.2098G>A:p.Val700Ile	coding	Benign
11	66332558	G	A	G66332558A	RIN1	NM_004292.3(RIN1):c.2070C>T:p.Ala690=	coding	Benign
11	66332699	G	C	G66332699C	RIN1	NM_004292.3(RIN1):c.1929C>G:p.Thr643=	coding	Benign
11	66333614	C	T	C66333614T	RIN1	NM_004292.3(RIN1):c.1636G>A:p.Val546Ile	coding	Benign
11	66337677	C	T	C66337677T	BRMS1	NM_015399.4(BRMS1):c.*205G>A	coding	Benign
11	66340784	G	A	G66340784A	BRMS1	NM_015399.4(BRMS1):c.525C>T:p.Asp175=	coding	Benign
11	66346136	C	T	C66346136T	B4GAT1	NM_006876.3(B4GAT1):c.1161G>A:p.Glu387=	coding	Benign
11	66346151	G	C	G66346151C	B4GAT1	NM_006876.3(B4GAT1):c.1146C>G:p.Phe382Leu	coding	Benign/Likely_benign
11	66346559	G	A	G66346559A	B4GAT1	NM_006876.3(B4GAT1):c.987C>T:p.Tyr329=	coding	Benign/Likely_benign
11	66346718	C	A	C66346718A	B4GAT1	NM_006876.3(B4GAT1):c.828G>T:p.Val276=	coding	Benign/Likely_benign
11	66347429	C	T	C66347429T	B4GAT1	NM_006876.3(B4GAT1):c.117G>A:p.Gln39=	coding	Benign
11	66347793	G	A	G66347793A	B4GAT1	NC_000011.10:g.66347793G>A	noncoding	Benign
11	66424369	G	C	G66424369C	NPAS4	NM_178864.4(NPAS4):c.1479G>C:p.Ser493=	coding	Benign
11	66424388	C	A	C66424388A	NPAS4	NM_178864.4(NPAS4):c.1498C>A:p.Gln500Lys	coding	Benign
11	66425062	G	A	G66425062A	NPAS4	NM_178864.4(NPAS4):c.2172G>A:p.Glu724=	coding	Benign
11	66425209	T	C	T66425209C	NPAS4	NM_178864.4(NPAS4):c.2319T>C:p.Tyr773=	coding	Benign
11	66482427	G	A	G66482427A	DPP3	NM_130443.4(DPP3):c.227G>A:p.Arg76His	coding	Benign
11	66485168	C	A	C66485168A	DPP3	NM_130443.4(DPP3):c.271-5C>A	noncoding	Benign
11	66485168	C	G	C66485168G	DPP3	NM_130443.4(DPP3):c.271-5C>G	noncoding	Benign
11	66486666	C	A	C66486666A	DPP3	NM_130443.4(DPP3):c.487C>A:p.Leu163Met	coding	Benign
11	66486686	C	G	C66486686G	DPP3	NM_130443.4(DPP3):c.498+9C>G	noncoding	Benign
11	66492720	C	T	C66492720T	DPP3	NM_130443.4(DPP3):c.993C>T:p.Phe331=	coding	Benign
11	66493086	G	A	G66493086A	DPP3	NM_130443.4(DPP3):c.1203G>A:p.Thr401=	coding	Benign
11	66493152	G	A	G66493152A	DPP3	NM_130443.4(DPP3):c.1269G>A:p.Lys423=	coding	Benign
11	66493573	C	T	C66493573T	DPP3	NM_130443.4(DPP3):c.1329C>T:p.Phe443=	coding	Benign
11	66495473	C	T	C66495473T	DPP3	NM_130443.4(DPP3):c.1561C>T:p.His521Tyr	coding	Benign
11	66504657	G	A	G66504657A	DPP3	NM_130443.4(DPP3):c.1924G>A:p.Glu642Lys	coding	Benign
11	66510683	T	C	T66510683C	BBS1	NM_024649.5(BBS1):c.24T>C:p.Asp8=	coding	Benign/Likely_benign
11	66511010	C	G	C66511010G	BBS1	NM_024649.5(BBS1):c.48-3C>G	noncoding	Pathogenic
11	66511033	G	A	G66511033A	BBS1	NM_024649.5(BBS1):c.68G>A:p.Trp23Ter	coding	Pathogenic
11	66511090	G	A	G66511090A	BBS1	NM_024649.5(BBS1):c.124+1G>A	coding	Pathogenic
11	66514463	G	T	G66514463T	BBS1	NM_024649.5(BBS1):c.217G>T:p.Gly73Ter	coding	Pathogenic
11	66514481	G	T	G66514481T	BBS1	NM_024649.5(BBS1):c.235G>T:p.Glu79Ter	coding	Pathogenic
11	66514609	C	A	C66514609A	BBS1	NM_024649.5(BBS1):c.363C>A:p.Tyr121Ter	coding	Pathogenic
11	66514624	G	A	G66514624A	BBS1	NM_024649.5(BBS1):c.378G>A:p.Leu126=	coding	Benign
11	66514663	G	A	G66514663A	BBS1	NM_024649.5(BBS1):c.417G>A:p.Trp139Ter	coding	Pathogenic
11	66514679	G	A	G66514679A	BBS1	NM_024649.5(BBS1):c.432+1G>A	coding	Pathogenic/Likely_pathogenic
11	66515535	C	T	C66515535T	BBS1	NM_024649.5(BBS1):c.433-5C>T	noncoding	Benign
11	66515543	C	T	C66515543T	BBS1	NM_024649.5(BBS1):c.436C>T:p.Arg146Ter	coding	Pathogenic/Likely_pathogenic
11	66515586	G	A	G66515586A	BBS1	NM_024649.5(BBS1):c.479G>A:p.Arg160Gln	coding	Pathogenic/Likely_pathogenic
11	66519593	G	A	G66519593A	BBS1	NM_024649.5(BBS1):c.592-24G>A	noncoding	Benign
11	66519725	G	A	G66519725A	BBS1	NM_024649.5(BBS1):c.700G>A:p.Glu234Lys	coding	Benign/Likely_benign
11	66521262	G	C	G66521262C	BBS1	NM_024649.5(BBS1):c.724-8G>C	noncoding	Benign
11	66521269	G	C	G66521269C	BBS1	NM_024649.5(BBS1):c.724-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	66523453	C	G	C66523453G	BBS1	NM_024649.5(BBS1):c.831-3C>G	noncoding	Pathogenic
11	66523496	C	T	C66523496T	BBS1	NM_024649.5(BBS1):c.871C>T:p.Gln291Ter	coding	Pathogenic
11	66523577	G	A	G66523577A	BBS1	NM_024649.5(BBS1):c.951+1G>A	coding	Pathogenic/Likely_pathogenic
11	66523723	G	C	G66523723C	BBS1	NM_024649.5(BBS1):c.952-1G>C	noncoding	Pathogenic
11	66523784	C	T	C66523784T	BBS1	NM_024649.5(BBS1):c.1012C>T:p.Gln338Ter	coding	Pathogenic
11	66523792	C	G	C66523792G	BBS1	NM_024649.5(BBS1):c.1020C>G:p.Ser340=	coding	Benign
11	66523808	G	A	G66523808A	BBS1	NM_024649.5(BBS1):c.1036G>A:p.Val346Ile	coding	Benign/Likely_benign
11	66526137	C	G	C66526137G	BBS1	NM_024649.5(BBS1):c.1125C>G:p.Ser375Arg	coding	Pathogenic
11	66526181	T	G	T66526181G	BBS1	NM_024649.5(BBS1):c.1169T>G:p.Met390Arg	coding	Pathogenic
11	66526189	C	T	C66526189T	BBS1	NM_024649.5(BBS1):c.1177C>T:p.Arg393Ter	coding	Pathogenic
11	66526708	G	T	G66526708T	BBS1	NM_024649.5(BBS1):c.1240G>T:p.Glu414Ter	coding	Pathogenic
11	66526753	C	T	C66526753T	BBS1	NM_024649.5(BBS1):c.1285C>T:p.Arg429Ter	coding	Pathogenic/Likely_pathogenic
11	66526786	C	T	C66526786T	BBS1	NM_024649.5(BBS1):c.1318C>T:p.Arg440Ter	coding	Pathogenic/Likely_pathogenic
11	66529817	A	G	A66529817G	BBS1	NM_024649.5(BBS1):c.1340-2A>G	noncoding	Pathogenic
11	66529828	G	A	G66529828A	BBS1	NM_024649.5(BBS1):c.1349G>A:p.Arg450Gln	coding	Benign
11	66529884	C	T	C66529884T	BBS1	NM_024649.5(BBS1):c.1405C>T:p.Gln469Ter	coding	Pathogenic
11	66529892	C	T	C66529892T	BBS1	NM_024649.5(BBS1):c.1413C>T:p.Leu471=	coding	Benign
11	66529926	C	T	C66529926T	BBS1	NM_024649.5(BBS1):c.1447C>T:p.Arg483Ter	coding	Pathogenic
11	66529956	A	G	A66529956G	BBS1	NM_024649.5(BBS1):c.1473+4A>G	noncoding	Pathogenic
11	66531029	G	A	G66531029A	BBS1;ZDHHC24	NM_024649.5(BBS1):c.1608+1G>A	coding	Pathogenic
11	66531692	G	T	G66531692T	BBS1	NM_024649.5(BBS1):c.1645G>T:p.Glu549Ter	coding	Pathogenic/Likely_pathogenic
11	66531741	A	G	A66531741G	BBS1	NM_024649.5(BBS1):c.1694A>G:p.Lys565Arg	coding	Pathogenic
11	66531752	G	A	G66531752A	BBS1	NM_024649.5(BBS1):c.1695+10G>A	noncoding	Benign
11	66531974	A	G	A66531974G	BBS1	NM_024649.5(BBS1):c.1719A>G:p.Gln573=	coding	Benign/Likely_benign
11	66532044	A	G	A66532044G	BBS1	NM_024649.5(BBS1):c.*7A>G	noncoding	Benign
11	66532224	C	T	C66532224T	BBS1	NM_024649.5(BBS1):c.*187C>T	noncoding	Benign
11	66532465	G	C	G66532465C	BBS1	NM_024649.5(BBS1):c.*428G>C	noncoding	Benign
11	66532877	A	G	A66532877G	BBS1	NM_024649.5(BBS1):c.*840A>G	noncoding	Benign
11	66532992	G	A	G66532992A	BBS1	NM_024649.5(BBS1):c.*955G>A	noncoding	Benign
11	66533252	T	C	T66533252C	BBS1	NM_024649.5(BBS1):c.*1215T>C	noncoding	Benign
11	66563949	G	A	G66563949A	CTSF	NM_003793.4(CTSF):c.1439C>T:p.Ser480Leu	coding	Pathogenic
11	66563981	G	A	G66563981A	CTSF	NM_003793.4(CTSF):c.1407C>T:p.Ser469=	coding	Benign
11	66563987	A	G	A66563987G	CTSF	NM_003793.4(CTSF):c.1401T>C:p.Arg467=	coding	Benign
11	66564095	C	G	C66564095G	CTSF	NM_003793.4(CTSF):c.1373G>C:p.Gly458Ala	coding	Pathogenic
11	66564100	G	A	G66564100A	CTSF	NM_003793.4(CTSF):c.1368C>T:p.Asp456=	coding	Benign/Likely_benign
11	66564558	G	A	G66564558A	CTSF	NM_003793.4(CTSF):c.1321C>T:p.Arg441Cys	coding	Benign
11	66564618	G	A	G66564618A	CTSF	NM_003793.4(CTSF):c.1261C>T:p.Arg421Trp	coding	Benign/Likely_benign
11	66564632	A	G	A66564632G	CTSF	NM_003793.4(CTSF):c.1247T>C:p.Ile416Thr	coding	Pathogenic
11	66564894	G	A	G66564894A	CTSF	NM_003793.4(CTSF):c.1158C>T:p.Asn386=	coding	Benign/Likely_benign
11	66565833	T	C	T66565833C	CTSF	NM_003793.4(CTSF):c.962A>G:p.Gln321Arg	coding	Pathogenic
11	66565856	C	T	C66565856T	CTSF	NM_003793.4(CTSF):c.939G>A:p.Gly313=	coding	Benign/Likely_benign
11	66566127	C	T	C66566127T	CTSF	NM_003793.4(CTSF):c.762G>A:p.Arg254=	coding	Benign
11	66566172	G	A	G66566172A	CTSF	NM_003793.4(CTSF):c.722-5C>T	noncoding	Benign
11	66566320	T	C	T66566320C	CTSF	NM_003793.4(CTSF):c.692A>G:p.Tyr231Cys	coding	Pathogenic
11	66566363	G	A	G66566363A	CTSF	NM_003793.4(CTSF):c.649C>T:p.Arg217Ter	coding	Pathogenic
11	66567517	T	C	T66567517C	CTSF	NM_003793.4(CTSF):c.458A>G:p.Gln153Arg	coding	Benign/Likely_benign
11	66567557	C	T	C66567557T	CTSF	NM_003793.4(CTSF):c.418G>A:p.Ala140Thr	coding	Benign
11	66568077	A	G	A66568077G	CTSF	NM_003793.4(CTSF):c.219T>C:p.Gly73=	coding	Benign
11	66568273	C	G	C66568273G	CTSF	NM_003793.4(CTSF):c.213+1G>C	noncoding	Pathogenic
11	66568361	G	A	G66568361A	CTSF	NM_003793.4(CTSF):c.126C>T:p.Pro42=	coding	Benign
11	66686024	C	T	C66686024T	SPTBN2	NM_006946.3(SPTBN2):c.7020G>A:p.Pro2340=	coding	Benign/Likely_benign
11	66686054	C	T	C66686054T	SPTBN2	NM_006946.3(SPTBN2):c.6990G>A:p.Ala2330=	coding	Benign
11	66686983	C	T	C66686983T	SPTBN2	NM_006946.3(SPTBN2):c.6896+11G>A	noncoding	Benign/Likely_benign
11	66687092	C	T	C66687092T	SPTBN2	NM_006946.3(SPTBN2):c.6798G>A:p.Ala2266=	coding	Benign/Likely_benign
11	66687139	G	A	G66687139A	SPTBN2	NM_006946.3(SPTBN2):c.6751C>T:p.Arg2251Trp	coding	Benign/Likely_benign
11	66687181	G	A	G66687181A	SPTBN2	NM_006946.4(SPTBN2):c.6723-14C>T	noncoding	Benign
11	66687480	C	T	C66687480T	SPTBN2	NM_006946.3(SPTBN2):c.6669G>A:p.Gly2223=	coding	Benign/Likely_benign
11	66688068	C	T	C66688068T	SPTBN2	NM_006946.3(SPTBN2):c.6386G>A:p.Arg2129Gln	coding	Benign
11	66688785	C	T	C66688785T	SPTBN2	NM_006946.3(SPTBN2):c.6099G>A:p.Glu2033=	coding	Benign
11	66689188	C	T	C66689188T	SPTBN2	NM_006946.3(SPTBN2):c.5950-8G>A	noncoding	Benign/Likely_benign
11	66690191	G	A	G66690191A	SPTBN2	NM_006946.3(SPTBN2):c.5658C>T:p.Ala1886=	coding	Benign/Likely_benign
11	66690210	C	T	C66690210T	SPTBN2	NM_006946.3(SPTBN2):c.5639G>A:p.Arg1880His	coding	Benign/Likely_benign
11	66691334	G	A	G66691334A	SPTBN2	NM_006946.3(SPTBN2):c.5515C>T:p.Gln1839Ter	coding	Pathogenic
11	66691509	G	A	G66691509A	SPTBN2	NM_006946.3(SPTBN2):c.5340C>T:p.Asn1780=	coding	Benign/Likely_benign
11	66691510	T	C	T66691510C	SPTBN2	NM_006946.4(SPTBN2):c.5339A>G:p.Asn1780Ser	coding	Benign
11	66691535	C	T	C66691535T	SPTBN2	NM_006946.3(SPTBN2):c.5314G>A:p.Val1772Met	coding	Benign/Likely_benign
11	66691539	G	C	G66691539C	SPTBN2	NM_006946.4(SPTBN2):c.5310C>G:p.Ala1770=	coding	Benign
11	66691544	G	T	G66691544T	SPTBN2	NM_006946.3(SPTBN2):c.5305C>A:p.Arg1769=	coding	Benign
11	66692587	G	A	G66692587A	SPTBN2	NM_006946.3(SPTBN2):c.5139C>T:p.Arg1713=	coding	Benign
11	66692695	G	A	G66692695A	SPTBN2	NM_006946.3(SPTBN2):c.5031C>T:p.Ala1677=	coding	Benign/Likely_benign
11	66692959	G	A	G66692959A	SPTBN2	NM_006946.3(SPTBN2):c.4985+11C>T	noncoding	Benign
11	66693035	G	A	G66693035A	SPTBN2	NM_006946.4(SPTBN2):c.4920C>T:p.Tyr1640=	coding	Benign
11	66693056	C	T	C66693056T	SPTBN2	NM_006946.3(SPTBN2):c.4899G>A:p.Leu1633=	coding	Benign/Likely_benign
11	66693408	G	A	G66693408A	SPTBN2	NM_006946.3(SPTBN2):c.4632C>T:p.Ile1544=	coding	Benign
11	66694157	G	A	G66694157A	SPTBN2	NM_006946.3(SPTBN2):c.4485C>T:p.Arg1495=	coding	Benign/Likely_benign
11	66694195	G	A	G66694195A	SPTBN2	NM_006946.3(SPTBN2):c.4447C>T:p.Arg1483Cys	coding	Benign/Likely_benign
11	66694371	C	T	C66694371T	SPTBN2	NM_006946.3(SPTBN2):c.4279-8G>A	noncoding	Benign
11	66696457	G	A	G66696457A	SPTBN2	NM_006946.3(SPTBN2):c.4098C>T:p.Asp1366=	coding	Benign
11	66698690	T	C	T66698690C	SPTBN2	NM_006946.3(SPTBN2):c.3963A>G:p.Ala1321=	coding	Benign/Likely_benign
11	66698768	G	A	G66698768A	SPTBN2	NM_006946.3(SPTBN2):c.3885C>T:p.Asp1295=	coding	Benign
11	66698780	C	T	C66698780T	SPTBN2	NM_006946.3(SPTBN2):c.3873G>A:p.Lys1291=	coding	Benign
11	66699055	C	T	C66699055T	SPTBN2	NM_006946.3(SPTBN2):c.3804G>A:p.Gln1268=	coding	Benign/Likely_benign
11	66699444	G	A	G66699444A	SPTBN2	NM_006946.3(SPTBN2):c.3738C>T:p.Ala1246=	coding	Benign
11	66699489	G	A	G66699489A	SPTBN2	NM_006946.3(SPTBN2):c.3693C>T:p.Leu1231=	coding	Benign
11	66699496	T	C	T66699496C	SPTBN2	NM_006946.3(SPTBN2):c.3686A>G:p.His1229Arg	coding	Benign/Likely_benign
11	66700583	G	A	G66700583A	SPTBN2	NM_006946.3(SPTBN2):c.3516C>T:p.His1172=	coding	Benign
11	66700670	T	C	T66700670C	SPTBN2	NM_006946.3(SPTBN2):c.3429A>G:p.Leu1143=	coding	Benign/Likely_benign
11	66700817	C	T	C66700817T	SPTBN2	NM_006946.3(SPTBN2):c.3282G>A:p.Pro1094=	coding	Benign/Likely_benign
11	66700988	G	A	G66700988A	SPTBN2	NM_006946.3(SPTBN2):c.3111C>T:p.Asn1037=	coding	Benign
11	66700998	A	G	A66700998G	SPTBN2	NM_006946.3(SPTBN2):c.3101T>C:p.Val1034Ala	coding	Benign
11	66701040	C	T	C66701040T	SPTBN2	NM_006946.3(SPTBN2):c.3059G>A:p.Arg1020Gln	coding	Benign
11	66701042	A	T	A66701042T	SPTBN2	NM_006946.3(SPTBN2):c.3057T>A:p.Thr1019=	coding	Benign
11	66701165	G	C	G66701165C	SPTBN2	NM_006946.3(SPTBN2):c.2934C>G:p.Thr978=	coding	Benign
11	66701195	C	T	C66701195T	SPTBN2	NM_006946.3(SPTBN2):c.2904G>A:p.Thr968=	coding	Benign
11	66701290	C	A	C66701290A	SPTBN2	NM_006946.3(SPTBN2):c.2817-8G>T	noncoding	Benign/Likely_benign
11	66701629	G	T	G66701629T	SPTBN2	NM_006946.3(SPTBN2):c.2771C>A:p.Pro924Gln	coding	Benign/Likely_benign
11	66704645	C	G	C66704645G	SPTBN2	NM_006946.3(SPTBN2):c.2631G>C:p.Gly877=	coding	Benign
11	66704702	G	A	G66704702A	SPTBN2	NM_006946.3(SPTBN2):c.2574C>T:p.Leu858=	coding	Benign
11	66704773	C	T	C66704773T	SPTBN2	NM_006946.3(SPTBN2):c.2503G>A:p.Glu835Lys	coding	Benign
11	66704781	C	T	C66704781T	SPTBN2	NM_006946.3(SPTBN2):c.2495G>A:p.Arg832Gln	coding	Benign
11	66704803	T	C	T66704803C	SPTBN2	NM_006946.3(SPTBN2):c.2473=:p.Gly825=	coding	Benign
11	66704957	G	A	G66704957A	SPTBN2	NM_006946.3(SPTBN2):c.2319C>T:p.Pro773=	coding	Benign
11	66705014	G	A	G66705014A	SPTBN2	NM_006946.3(SPTBN2):c.2262C>T:p.Ala754=	coding	Benign/Likely_benign
11	66705304	G	A	G66705304A	SPTBN2	NM_006946.3(SPTBN2):c.1972C>T:p.Arg658Trp	coding	Benign/Likely_benign
11	66705347	G	C	G66705347C	SPTBN2	NM_006946.3(SPTBN2):c.1929C>G:p.Leu643=	coding	Benign
11	66705361	C	A	C66705361A	SPTBN2	NM_006946.3(SPTBN2):c.1915G>T:p.Glu639Ter	coding	Pathogenic
11	66705395	G	T	G66705395T	SPTBN2	NM_006946.3(SPTBN2):c.1881C>A:p.Cys627Ter	coding	Pathogenic
11	66705709	G	A	G66705709A	SPTBN2	NM_006946.3(SPTBN2):c.1782C>T:p.Ala594=	coding	Benign
11	66705727	C	T	C66705727T	SPTBN2	NM_006946.3(SPTBN2):c.1764G>A:p.Arg588=	coding	Benign
11	66705769	C	T	C66705769T	SPTBN2	NM_006946.3(SPTBN2):c.1722G>A:p.Glu574=	coding	Benign/Likely_benign
11	66707731	G	A	G66707731A	SPTBN2	NM_006946.3(SPTBN2):c.1438C>T:p.Arg480Trp	coding	Pathogenic
11	66707735	G	A	G66707735A	SPTBN2	NM_006946.3(SPTBN2):c.1434C>T:p.Ser478=	coding	Benign/Likely_benign
11	66707753	C	T	C66707753T	SPTBN2	NM_006946.3(SPTBN2):c.1416G>A:p.Thr472=	coding	Benign
11	66707825	C	A	C66707825A	SPTBN2	NM_006946.3(SPTBN2):c.1351-7G>T	noncoding	Benign
11	66707825	C	T	C66707825T	SPTBN2	NM_006946.3(SPTBN2):c.1351-7G>A	noncoding	Benign/Likely_benign
11	66708270	G	A	G66708270A	SPTBN2	NM_006946.3(SPTBN2):c.1221C>T:p.His407=	coding	Benign/Likely_benign
11	66710587	C	T	C66710587T	SPTBN2	NM_006946.3(SPTBN2):c.1068G>A:p.Pro356=	coding	Benign
11	66710644	A	C	A66710644C	SPTBN2	NM_006946.3(SPTBN2):c.1011T>G:p.Leu337=	coding	Benign/Likely_benign
11	66710692	G	A	G66710692A	SPTBN2	NM_006946.3(SPTBN2):c.963C>T:p.Ile321=	coding	Benign/Likely_benign
11	66710912	A	G	A66710912G	SPTBN2	NM_006946.3(SPTBN2):c.885+5T>C	noncoding	Benign
11	66713635	G	A	G66713635A	SPTBN2	NM_006946.3(SPTBN2):c.768C>T:p.Pro256=	coding	Benign
11	66713645	A	G	A66713645G	SPTBN2	NM_006946.3(SPTBN2):c.758T>C:p.Leu253Pro	coding	Pathogenic
11	66714157	T	C	T66714157C	SPTBN2	NM_006946.3(SPTBN2):c.590A>G:p.Asn197Ser	coding	Benign
11	66714162	G	A	G66714162A	SPTBN2	NM_006946.3(SPTBN2):c.585C>T:p.Asn195=	coding	Benign/Likely_benign
11	66715854	G	A	G66715854A	SPTBN2	NM_006946.3(SPTBN2):c.285C>T:p.Leu95=	coding	Benign/Likely_benign
11	66715890	G	A	G66715890A	SPTBN2	NM_006946.3(SPTBN2):c.249C>T:p.Ser83=	coding	Benign/Likely_benign
11	66715905	C	T	C66715905T	SPTBN2	NM_006946.3(SPTBN2):c.234G>A:p.Val78=	coding	Benign/Likely_benign
11	66715971	T	C	T66715971C	SPTBN2	NM_006946.3(SPTBN2):c.168A>G:p.Glu56=	coding	Benign
11	66842947	G	A	G66842947A	C11orf80	NM_001302084.2(C11orf80):c.1348G>A:p.Glu450Lys	coding	Benign
11	66848793	C	A	C66848793A	PC	NM_001040716.2(PC):c.*106G>T	noncoding	Benign
11	66849094	C	T	C66849094T	PC	NM_001040716.2(PC):c.3342G>A:p.Ala1114=	coding	Benign/Likely_benign
11	66849260	G	C	G66849260C	PC	NM_001040716.2(PC):c.3258C>G:p.Ser1086=	coding	Benign/Likely_benign
11	66849961	C	A	C66849961A	PC	NM_001040716.2(PC):c.2874G>T:p.Gly958=	coding	Benign
11	66849979	G	A	G66849979A	PC	NM_001040716.2(PC):c.2856C>T:p.Ile952=	coding	Benign
11	66850256	A	G	A66850256G	PC	NM_001040716.2(PC):c.2682T>C:p.Tyr894=	coding	Benign
11	66850270	C	A	C66850270A	PC	NM_001040716.2(PC):c.2668G>T:p.Val890Phe	coding	Pathogenic
11	66850319	G	A	G66850319A	PC	NM_001040716.2(PC):c.2619C>T:p.Asn873=	coding	Benign
11	66850346	A	G	A66850346G	PC	NM_001040716.2(PC):c.2592T>C:p.Asn864=	coding	Benign/Likely_benign
11	66850358	G	A	G66850358A	PC	NM_001040716.2(PC):c.2580C>T:p.Asp860=	coding	Benign
11	66850361	C	T	C66850361T	PC	NM_001040716.2(PC):c.2577G>A:p.Ser859=	coding	Benign/Likely_benign
11	66850398	G	A	G66850398A	PC	NM_001040716.2(PC):c.2540C>T:p.Ala847Val	coding	Pathogenic
11	66850403	G	A	G66850403A	PC	NM_001040716.2(PC):c.2535C>T:p.Tyr845=	coding	Benign
11	66850841	T	A	T66850841A	PC	NM_001040716.2(PC):c.2306A>T:p.His769Leu	coding	Pathogenic
11	66850861	G	C	G66850861C	PC	NM_001040716.2(PC):c.2286C>G:p.Arg762=	coding	Benign
11	66850898	G	A	G66850898A	PC	NM_001040716.2(PC):c.2249C>T:p.Thr750Met	coding	Benign
11	66850918	C	A	C66850918A	PC	NM_001040716.2(PC):c.2229G>T:p.Met743Ile	coding	Pathogenic
11	66850932	A	C	A66850932C	PC	NM_001040716.2(PC):c.2224-9T>G	noncoding	Benign
11	66851149	G	T	G66851149T	PC	NM_001040716.2(PC):c.2114C>A:p.Ser705Ter	coding	Pathogenic
11	66851880	C	T	C66851880T	PC	NM_001040716.2(PC):c.1892G>A:p.Arg631Gln	coding	Pathogenic
11	66851944	C	T	C66851944T	PC	NM_001040716.2(PC):c.1828G>A:p.Ala610Thr	coding	Pathogenic
11	66852516	C	A	C66852516A	PC	NM_001040716.2(PC):c.1748G>T:p.Arg583Leu	coding	Pathogenic
11	66852559	T	C	T66852559C	PC	NM_001040716.2(PC):c.1705A>G:p.Thr569Ala	coding	Pathogenic
11	66852562	T	C	T66852562C	PC	NM_001040716.2(PC):c.1702A>G:p.Thr568Ala	coding	Benign/Likely_benign
11	66852581	C	T	C66852581T	PC	NM_001040716.2(PC):c.1683G>A:p.Pro561=	coding	Benign/Likely_benign
11	66852656	C	T	C66852656T	PC	NM_001040716.2(PC):c.1608G>A:p.Pro536=	coding	Benign/Likely_benign
11	66852799	G	A	G66852799A	PC	NM_001040716.2(PC):c.1551C>T:p.Pro517=	coding	Benign/Likely_benign
11	66853230	G	T	G66853230T	PC	NM_001040716.2(PC):c.1513+9C>A	noncoding	Benign
11	66853258	T	C	T66853258C	PC	NM_001040716.2(PC):c.1494A>G:p.Gln498=	coding	Benign
11	66853272	G	A	G66853272A	PC	NM_001040716.2(PC):c.1480C>T:p.Gln494Ter	coding	Pathogenic
11	66853344	G	A	G66853344A	PC	NM_001040716.2(PC):c.1408C>T:p.Gln470Ter	coding	Pathogenic
11	66853351	G	A	G66853351A	PC	NM_001040716.2(PC):c.1401C>T:p.Asn467=	coding	Benign/Likely_benign
11	66863785	G	A	G66863785A	PC	NM_001040716.2(PC):c.1357C>T:p.Arg453Ter	coding	Pathogenic
11	66863791	G	A	G66863791A	PC	NM_001040716.2(PC):c.1351C>T:p.Arg451Cys	coding	Pathogenic
11	66863798	C	T	C66863798T	PC	NM_001040716.2(PC):c.1344G>A:p.Ala448=	coding	Benign/Likely_benign
11	66866205	C	T	C66866205T	PC	NM_001040716.2(PC):c.1167G>A:p.Pro389=	coding	Benign/Likely_benign
11	66866318	C	A	C66866318A	PC	NM_001040716.2(PC):c.1054G>T:p.Ala352Ser	coding	Benign
11	66868692	G	T	G66868692T	PC	NM_001040716.2(PC):c.1022+154C>A	noncoding	Benign
11	66868917	G	A	G66868917A	PC	NM_001040716.2(PC):c.951C>T:p.His317=	coding	Benign
11	66868981	G	A	G66868981A	PC	NM_001040716.2(PC):c.904-17C>T	noncoding	Benign
11	66870408	G	T	G66870408T	PC	NM_001040716.2(PC):c.797C>A:p.Ser266Tyr	coding	Pathogenic
11	66870409	A	T	A66870409T	PC	NM_001040716.2(PC):c.796T>A:p.Ser266Thr	coding	Pathogenic
11	66871368	A	G	A66871368G	PC	NM_001040716.2(PC):c.434T>C:p.Val145Ala	coding	Pathogenic
11	66871490	G	A	G66871490A	PC	NM_001040716.2(PC):c.322-10C>T	noncoding	Benign
11	66871779	G	A	G66871779A	PC	NM_001040716.2(PC):c.229C>T:p.Arg77Trp	coding	Pathogenic
11	66871781	T	A	T66871781A	PC	NM_001040716.2(PC):c.227A>T:p.His76Leu	coding	Benign
11	66871792	C	T	C66871792T	PC	NM_001040716.2(PC):c.216G>A:p.Thr72=	coding	Benign/Likely_benign
11	66871824	G	A	G66871824A	PC	NM_001040716.2(PC):c.184C>T:p.Arg62Cys	coding	Pathogenic
11	66872075	C	T	C66872075T	PC	NM_001040716.2(PC):c.85G>A:p.Val29Ile	coding	Benign
11	66872108	G	T	G66872108T	PC	NM_001040716.2(PC):c.52C>A:p.Arg18=	coding	Benign/Likely_benign
11	66907809	C	T	C66907809T	PC	NM_001040716.2(PC):c.1-35650G>A	noncoding	Benign
11	66958368	T	G	T66958368G	PC	NM_001040716.2(PC):c.-274A>C	noncoding	Benign
11	67071530	C	T	C67071530T	RHOD	NM_014578.4(RHOD):c.561C>T:p.Ala187=	coding	Benign
11	67255019	C	T	C67255019T	KDM2A	NM_012308.3(KDM2A):c.3453C>T:p.Cys1151=	coding	Benign
11	67284851	C	T	C67284851T	GRK2	NM_001619.5(GRK2):c.1659C>T:p.Tyr553=	coding	Benign
11	67285449	G	A	G67285449A	GRK2	NM_001619.5(GRK2):c.2069G>A:p.Ter690=	coding	Benign
11	67365138	A	G	A67365138G	CLCF1	NM_013246.3(CLCF1):c.676T>C:p.Ter226Arg	coding	Pathogenic
11	67365224	C	A	C67365224A	CLCF1	NM_013246.3(CLCF1):c.590G>T:p.Arg197Leu	coding	Pathogenic
11	67365493	G	T	G67365493T	CLCF1	NM_013246.3(CLCF1):c.321C>A:p.Tyr107Ter	coding	Pathogenic
11	67367597	A	G	A67367597G	CLCF1	NM_013246.3(CLCF1):c.46T>C:p.Cys16Arg	coding	Pathogenic
11	67452544	C	T	C67452544T	CABP4	NM_206997.1(GPR152):c.181G>A:p.Gly61Arg	coding	Benign
11	67455473	G	C	G67455473C	CABP4	NM_145200.4(CABP4):c.50G>C:p.Gly17Ala	coding	Benign
11	67455476	G	A	G67455476A	CABP4	NM_145200.4(CABP4):c.53G>A:p.Arg18His	coding	Benign
11	67455615	C	T	C67455615T	CABP4	NM_145200.4(CABP4):c.192C>T:p.Pro64=	coding	Benign
11	67455722	G	A	G67455722A	CABP4	NM_145200.4(CABP4):c.299G>A:p.Arg100His	coding	Benign
11	67455783	C	T	C67455783T	CABP4	NM_145200.4(CABP4):c.360C>T:p.Phe120=	coding	Benign/Likely_benign
11	67456217	C	T	C67456217T	CABP4	NM_145200.4(CABP4):c.396C>T:p.Asp132=	coding	Benign
11	67456449	C	G	C67456449G	CABP4	NM_145200.4(CABP4):c.541+7C>G	noncoding	Benign
11	67456450	A	C	A67456450C	CABP4	NM_145200.4(CABP4):c.541+8A>C	noncoding	Benign
11	67457677	C	T	C67457677T	CABP4	NM_145200.4(CABP4):c.646C>T:p.Arg216Ter	coding	Pathogenic
11	67458392	C	T	C67458392T	CABP4	NM_145200.4(CABP4):c.673C>T:p.Arg225Ter	coding	Pathogenic
11	67458466	C	T	C67458466T	CABP4	NM_145200.4(CABP4):c.747C>T:p.Asp249=	coding	Benign
11	67458506	G	A	G67458506A	CABP4	NM_145200.4(CABP4):c.787G>A:p.Val263Ile	coding	Benign
11	67458626	C	T	C67458626T	CABP4	NM_145200.4(CABP4):c.800-5C>T	noncoding	Benign
11	67458778	T	G	T67458778G	CABP4	NM_145200.4(CABP4):c.*119T>G	noncoding	Benign
11	67458779	T	A	T67458779A	CABP4	NM_145200.4(CABP4):c.*120T>A	noncoding	Benign
11	67459535	G	A	G67459535A	CABP4	NM_145200.4(CABP4):c.*876G>A	noncoding	Benign
11	67459622	C	T	C67459622T	CABP4	NM_145200.4(CABP4):c.*963C>T	noncoding	Benign
11	67460094	G	A	G67460094A	CABP4	NM_145200.4(CABP4):c.*1435G>A	noncoding	Benign
11	67483075	C	G	C67483075G	AIP	NM_003977.4(AIP):c.-84C>G	noncoding	Benign
11	67483136	A	G	A67483136G	AIP	NM_003977.4(AIP):c.-23A>G	noncoding	Benign
11	67483194	G	A	G67483194A	AIP	NM_003977.4(AIP):c.36G>A:p.Gly12=	coding	Benign/Likely_benign
11	67483198	C	T	C67483198T	AIP	NM_003977.4(AIP):c.40C>T:p.Gln14Ter	coding	Pathogenic
11	67483222	C	T	C67483222T	AIP	NM_003977.4(AIP):c.64C>T:p.Arg22Ter	coding	Pathogenic/Likely_pathogenic
11	67483226	G	A	G67483226A	AIP	NM_003977.4(AIP):c.68G>A:p.Gly23Glu	coding	Benign/Likely_benign
11	67483243	C	T	C67483243T	AIP	NM_003977.4(AIP):c.85C>T:p.Gln29Ter	coding	Pathogenic
11	67487038	C	T	C67487038T	AIP	NM_003977.4(AIP):c.132C>T:p.Asp44=	coding	Benign
11	67487050	C	T	C67487050T	AIP	NM_003977.4(AIP):c.144C>T:p.Thr48=	coding	Benign/Likely_benign
11	67487124	G	A	G67487124A	AIP	NM_003977.4(AIP):c.218G>A:p.Trp73Ter	coding	Pathogenic
11	67487147	C	T	C67487147T	AIP	NM_003977.4(AIP):c.241C>T:p.Arg81Ter	coding	Pathogenic
11	67489353	C	T	C67489353T	AIP	NM_003977.4(AIP):c.366C>T:p.Cys122=	coding	Benign/Likely_benign
11	67490037	G	A	G67490037A	AIP	NM_003977.4(AIP):c.469-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	67490059	C	T	C67490059T	AIP	NM_003977.4(AIP):c.490C>T:p.Gln164Ter	coding	Pathogenic
11	67490085	C	T	C67490085T	AIP	NM_003977.4(AIP):c.516C>T:p.Asp172=	coding	Benign
11	67490212	A	T	A67490212T	AIP	NM_003977.4(AIP):c.643A>T:p.Lys215Ter	coding	Pathogenic
11	67490352	C	A	C67490352A	AIP	NM_003977.4(AIP):c.682C>A:p.Gln228Lys	coding	Benign
11	67490355	C	T	C67490355T	AIP	NM_003977.4(AIP):c.685C>T:p.Gln229Ter	coding	Pathogenic
11	67490363	G	A	G67490363A	AIP	NM_003977.4(AIP):c.693G>A:p.Thr231=	coding	Benign/Likely_benign
11	67490391	A	G	A67490391G	AIP	NM_003977.4(AIP):c.721A>G:p.Lys241Glu	coding	Pathogenic
11	67490423	G	A	G67490423A	AIP	NM_003977.4(AIP):c.753G>A:p.Leu251=	coding	Benign/Likely_benign
11	67490804	C	A	C67490804A	AIP	NM_003977.4(AIP):c.804C>A:p.Tyr268Ter	coding	Pathogenic/Likely_pathogenic
11	67490811	C	T	C67490811T	AIP	NM_003977.4(AIP):c.811C>T:p.Arg271Trp	coding	Pathogenic
11	67490891	C	A	C67490891A	AIP	NM_003977.4(AIP):c.891C>A:p.Ala297=	coding	Benign
11	67490910	C	T	C67490910T	AIP	NM_003977.4(AIP):c.910C>T:p.Arg304Ter	coding	Pathogenic
11	67491053	G	C	G67491053C	AIP	NM_003977.4(AIP):c.*60G>C	noncoding	Benign
11	67491057	G	A	G67491057A	AIP	NM_003977.4(AIP):c.*64G>A	noncoding	Benign
11	67494940	C	T	C67494940T	PITPNM1	NM_004910.3(PITPNM1):c.2648G>A:p.Arg883Gln	coding	Benign
11	67497973	A	G	A67497973G	PITPNM1	NM_004910.3(PITPNM1):c.1726T>C:p.Cys576Arg	coding	Benign
11	67500165	G	A	G67500165A	PITPNM1	NM_004910.3(PITPNM1):c.897C>T:p.Ala299=	coding	Benign
11	67502683	G	A	G67502683A	PITPNM1	NM_004910.3(PITPNM1):c.114C>T:p.Ser38=	coding	Benign
11	67507592	C	T	C67507592T	CDK2AP2	NM_005851.5(CDK2AP2):c.180G>A:p.Gln60=	coding	Benign
11	67519792	C	A	C67519792A	CABP2	NM_016366.3(CABP2):c.637+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	67521123	C	T	C67521123T	CABP2	NM_016366.3(CABP2):c.281G>A:p.Arg94Gln	coding	Benign
11	67521124	G	C	G67521124C	CABP2	NM_016366.3(CABP2):c.280C>G:p.Arg94Gly	coding	Benign/Likely_benign
11	67521964	C	T	C67521964T	CABP2	NM_016366.3(CABP2):c.232G>A:p.Glu78Lys	coding	Pathogenic
11	67606685	A	G	A67606685G	NDUFV1	NC_000011.10:g.67606685A>G	noncoding	Benign
11	67606939	G	A	G67606939A	NDUFV1	NM_007103.4(NDUFV1):c.-66G>A	noncoding	Benign
11	67607230	G	A	G67607230A	NDUFV1	NM_007103.4(NDUFV1):c.72+154G>A	noncoding	Benign
11	67608571	C	T	C67608571T	NDUFV1	NM_007103.4(NDUFV1):c.175C>T:p.Arg59Ter	coding	Pathogenic
11	67608615	C	T	C67608615T	NDUFV1	NM_007103.4(NDUFV1):c.219C>T:p.Pro73=	coding	Benign/Likely_benign
11	67609000	C	G	C67609000G	NDUFV1	NM_007103.4(NDUFV1):c.326+278C>G	noncoding	Benign
11	67609473	C	T	C67609473T	NDUFV1	NM_007103.4(NDUFV1):c.348C>T:p.Asn116=	coding	Benign/Likely_benign
11	67609474	G	A	G67609474A	NDUFV1	NM_007103.4(NDUFV1):c.349G>A:p.Ala117Thr	coding	Pathogenic
11	67609490	C	T	C67609490T	NDUFV1	NM_007103.4(NDUFV1):c.365C>T:p.Pro122Leu	coding	Pathogenic/Likely_pathogenic
11	67609557	G	C	G67609557C	NDUFV1	NM_007103.4(NDUFV1):c.432G>C:p.Val144=	coding	Benign/Likely_benign
11	67609560	G	A	G67609560A	NDUFV1	NM_007103.4(NDUFV1):c.435G>A:p.Gly145=	coding	Benign
11	67610287	C	T	C67610287T	NDUFV1	NM_007103.4(NDUFV1):c.511-94C>T	noncoding	Benign
11	67610419	C	G	C67610419G	NDUFV1	NM_007103.4(NDUFV1):c.549C>G:p.Gly183=	coding	Benign
11	67610487	G	A	G67610487A	NDUFV1	NM_007103.4(NDUFV1):c.617G>A:p.Cys206Tyr	coding	Pathogenic
11	67610758	T	G	T67610758G	NDUFV1	NM_007103.4(NDUFV1):c.700+188T>G	noncoding	Benign
11	67611236	G	T	G67611236T	NDUFV1	NM_007103.4(NDUFV1):c.913+29G>T	noncoding	Benign
11	67611545	T	C	T67611545C	NDUFV1	NM_007103.4(NDUFV1):c.1056T>C:p.Ala352=	coding	Benign
11	67611934	T	C	T67611934C	NDUFV1	NM_007103.4(NDUFV1):c.1118T>C:p.Phe373Ser	coding	Pathogenic
11	67611948	A	C	A67611948C	NDUFV1	NM_007103.4(NDUFV1):c.1132A>C:p.Ser378Arg	coding	Pathogenic
11	67611972	C	T	C67611972T	NDUFV1	NM_007103.4(NDUFV1):c.1156C>T:p.Arg386Cys	coding	Pathogenic/Likely_pathogenic
11	67611982	A	C	A67611982C	NDUFV1	NM_007103.4(NDUFV1):c.1162+4A>C	noncoding	Pathogenic/Likely_pathogenic
11	67612104	G	A	G67612104A	NDUFV1	NM_007103.4(NDUFV1):c.1163-16G>A	noncoding	Benign
11	67612225	C	T	C67612225T	NDUFV1	NM_007103.4(NDUFV1):c.1268C>T:p.Thr423Met	coding	Pathogenic/Likely_pathogenic
11	67612395	G	A	G67612395A	NDUFV1	NM_007103.4(NDUFV1):c.1332G>A:p.Pro444=	coding	Benign
11	67612537	C	T	C67612537T	NDUFV1	NM_007103.4(NDUFV1):c.*79C>T	noncoding	Benign/Likely_benign
11	67639456	C	T	C67639456T	TBX10	NM_005995.4(TBX10):c.7+10G>A	noncoding	Benign
11	67991568	C	T	C67991568T	UNC93B1	NM_030930.4(UNC93B1):c.1772G>A:p.Gly591Glu	coding	Benign
11	67991572	C	A	C67991572A	UNC93B1	NM_030930.4(UNC93B1):c.1768G>T:p.Gly590Trp	coding	Benign
11	67991615	G	C	G67991615C	UNC93B1	NM_030930.4(UNC93B1):c.1725C>G:p.Pro575=	coding	Benign
11	67991783	G	C	G67991783C	UNC93B1	NM_030930.4(UNC93B1):c.1557C>G:p.Arg519=	coding	Benign
11	67993705	C	T	C67993705T	UNC93B1	NM_030930.4(UNC93B1):c.1453G>A:p.Val485Met	coding	Benign
11	67993709	G	A	G67993709A	UNC93B1	NM_030930.4(UNC93B1):c.1449C>T:p.Phe483=	coding	Benign
11	67995768	C	G	C67995768G	UNC93B1	NM_030930.4(UNC93B1):c.1206G>C:p.Pro402=	coding	Benign
11	67995791	G	A	G67995791A	UNC93B1	NM_030930.4(UNC93B1):c.1183C>T:p.Leu395=	coding	Benign
11	67995811	G	A	G67995811A	UNC93B1	NM_030930.4(UNC93B1):c.1163C>T:p.Ala388Val	coding	Benign
11	67995819	G	A	G67995819A	UNC93B1	NM_030930.4(UNC93B1):c.1155C>T:p.Gly385=	coding	Benign
11	67996789	G	A	G67996789A	UNC93B1	NM_030930.4(UNC93B1):c.907-5C>T	noncoding	Benign
11	67999234	G	A	G67999234A	UNC93B1	NM_030930.4(UNC93B1):c.626C>T:p.Pro209Leu	coding	Benign
11	67999690	G	A	G67999690A	UNC93B1	NM_030930.4(UNC93B1):c.393-10C>T	noncoding	Benign/Likely_benign
11	68003029	G	T	G68003029T	UNC93B1	NM_030930.4(UNC93B1):c.385C>A:p.Leu129Ile	coding	Benign
11	68003181	G	A	G68003181A	UNC93B1	NM_030930.4(UNC93B1):c.239-6C>T	noncoding	Benign
11	68003806	C	A	C68003806A	UNC93B1	NM_030930.4(UNC93B1):c.97-8G>T	noncoding	Benign
11	68003938	C	T	C68003938T	UNC93B1	NM_030930.4(UNC93B1):c.96+10G>A	noncoding	Benign
11	68030689	A	C	A68030689C	NDUFS8	NM_002496.4(NDUFS8):c.-45A>C	noncoding	Benign/Likely_benign
11	68033000	G	C	G68033000C	NDUFS8	NM_002496.4(NDUFS8):c.187G>C:p.Glu63Gln	coding	Pathogenic
11	68033027	T	G	T68033027G	NDUFS8	NM_002496.4(NDUFS8):c.199+15T>G	noncoding	Benign
11	68033165	C	T	C68033165T	NDUFS8	NM_002496.4(NDUFS8):c.254C>T:p.Pro85Leu	coding	Pathogenic
11	68036293	G	A	G68036293A	NDUFS8	NM_002496.4(NDUFS8):c.413G>A:p.Arg138His	coding	Pathogenic
11	68036356	C	A	C68036356A	NDUFS8	NM_002496.4(NDUFS8):c.476C>A:p.Ala159Asp	coding	Pathogenic
11	68036607	C	T	C68036607T	NDUFS8;TCIRG1	NM_002496.4(NDUFS8):c.*14C>T	noncoding	Benign/Likely_benign
11	68041392	A	T	A68041392T	TCIRG1	NM_006019.4(TCIRG1):c.117+4A>T	noncoding	Pathogenic/Likely_pathogenic
11	68041789	G	C	G68041789C	TCIRG1	NM_006019.4(TCIRG1):c.154G>C:p.Val52Leu	coding	Benign
11	68041801	C	T	C68041801T	TCIRG1	NM_006019.4(TCIRG1):c.166C>T:p.Arg56Trp	coding	Benign
11	68041836	G	A	G68041836A	TCIRG1	NM_006019.4(TCIRG1):c.196+5G>A	noncoding	Pathogenic
11	68042693	A	G	A68042693G	TCIRG1	NM_006019.4(TCIRG1):c.247A>G:p.Lys83Glu	coding	Benign
11	68042738	C	T	C68042738T	TCIRG1	NM_006019.4(TCIRG1):c.292C>T:p.Gln98Ter	coding	Pathogenic
11	68042753	C	T	C68042753T	TCIRG1	NM_006019.4(TCIRG1):c.307C>T:p.Arg103Cys	coding	Benign
11	68042792	C	T	C68042792T	TCIRG1	NM_006019.4(TCIRG1):c.346C>T:p.Gln116Ter	coding	Pathogenic/Likely_pathogenic
11	68042830	C	T	C68042830T	TCIRG1	NM_006019.4(TCIRG1):c.384C>T:p.His128=	coding	Benign
11	68042858	C	T	C68042858T	TCIRG1	NM_006019.4(TCIRG1):c.412C>T:p.Pro138Ser	coding	Benign
11	68042874	A	G	A68042874G	TCIRG1	NM_006019.4(TCIRG1):c.417+11A>G	noncoding	Benign
11	68043007	G	A	G68043007A	TCIRG1	NM_006019.4(TCIRG1):c.479G>A:p.Gly160Glu	coding	Benign/Likely_benign
11	68043395	C	A	C68043395A	TCIRG1	NM_006019.4(TCIRG1):c.528C>A:p.Pro176=	coding	Benign
11	68043499	T	C	T68043499C	TCIRG1	NM_006019.4(TCIRG1):c.630+2T>C	noncoding	Pathogenic
11	68044137	C	T	C68044137T	TCIRG1	NM_006019.4(TCIRG1):c.813C>T:p.Leu271=	coding	Benign
11	68044303	C	T	C68044303T	TCIRG1	NM_006019.4(TCIRG1):c.979C>T:p.Arg327Ter	coding	Pathogenic/Likely_pathogenic
11	68045051	C	T	C68045051T	TCIRG1	NM_006019.4(TCIRG1):c.1114C>T:p.Gln372Ter	coding	Pathogenic
11	68046463	A	G	A68046463G	TCIRG1	NM_006019.4(TCIRG1):c.1166-970A>G	noncoding	Benign
11	68047480	G	A	G68047480A	TCIRG1	NM_006019.4(TCIRG1):c.1213G>A:p.Gly405Arg	coding	Pathogenic/Likely_pathogenic
11	68047480	G	C	G68047480C	TCIRG1	NM_006019.4(TCIRG1):c.1213G>C:p.Gly405Arg	coding	Pathogenic/Likely_pathogenic
11	68047512	G	C	G68047512C	TCIRG1	NM_006019.4(TCIRG1):c.1245G>C:p.Leu415=	coding	Benign
11	68047543	C	T	C68047543T	TCIRG1	NM_006019.4(TCIRG1):c.1276C>T:p.Arg426Ter	coding	Pathogenic
11	68047672	G	T	G68047672T	TCIRG1	NM_006019.4(TCIRG1):c.1331G>T:p.Arg444Leu	coding	Pathogenic
11	68047733	C	A	C68047733A	TCIRG1	NM_006019.4(TCIRG1):c.1392C>A:p.Cys464Ter	coding	Pathogenic
11	68047933	C	T	C68047933T	TCIRG1	NM_006019.4(TCIRG1):c.1515C>T:p.Thr505=	coding	Benign/Likely_benign
11	68048996	G	C	G68048996C	TCIRG1	NM_006019.4(TCIRG1):c.1672G>C:p.Val558Leu	coding	Benign
11	68049080	G	A	G68049080A	TCIRG1	NM_006019.4(TCIRG1):c.1674-1G>A	noncoding	Pathogenic
11	68049081	G	A	G68049081A	TCIRG1	NM_006019.4(TCIRG1):c.1674G>A:p.Val558=	coding	Pathogenic
11	68049122	C	T	C68049122T	TCIRG1	NM_006019.4(TCIRG1):c.1715C>T:p.Pro572Leu	coding	Benign/Likely_benign
11	68049783	C	T	C68049783T	TCIRG1	NM_006019.4(TCIRG1):c.2008C>T:p.Arg670Ter	coding	Pathogenic
11	68050014	G	A	G68050014A	TCIRG1	NM_006019.4(TCIRG1):c.2066G>A:p.Trp689Ter	coding	Pathogenic
11	68050211	C	T	C68050211T	TCIRG1	NM_006019.4(TCIRG1):c.2193C>T:p.Thr731=	coding	Benign/Likely_benign
11	68050254	C	T	C68050254T	TCIRG1	NM_006019.4(TCIRG1):c.2236C>T:p.Gln746Ter	coding	Pathogenic
11	68050255	G	A	G68050255A	TCIRG1	NM_006019.4(TCIRG1):c.2236+1G>A	coding	Pathogenic
11	68050802	G	A	G68050802A	TCIRG1	NM_006019.4(TCIRG1):c.2476G>A:p.Ala826Thr	coding	Benign
11	68158309	T	C	T68158309C	KMT5B	NM_017635.5(KMT5B):c.2037A>G:p.Thr679=	coding	Benign
11	68171136	G	A	G68171136A	KMT5B	NM_017635.5(KMT5B):c.856C>T:p.Arg286Ter	coding	Pathogenic
11	68171705	G	A	G68171705A	KMT5B	NM_017635.5(KMT5B):c.658C>T:p.Arg220Ter	coding	Pathogenic
11	68173898	G	T	G68173898T	KMT5B	NM_017635.5(KMT5B):c.559C>A:p.Arg187=	coding	Benign
11	68175177	C	T	C68175177T	KMT5B	NM_017635.5(KMT5B):c.384G>A:p.Arg128=	coding	Benign
11	68312730	C	A	C68312730A	LRP5	NM_002335.4(LRP5):c.16C>A:p.Pro6Thr	coding	Benign
11	68312743	G	A	G68312743A	LRP5	NM_002335.4(LRP5):c.29G>A:p.Trp10Ter	coding	Pathogenic
11	68348021	A	G	A68348021G	LRP5	NM_002335.4(LRP5):c.266A>G:p.Gln89Arg	coding	Benign
11	68348139	G	A	G68348139A	LRP5	NM_002335.4(LRP5):c.384G>A:p.Glu128=	coding	Benign
11	68348188	C	T	C68348188T	LRP5	NM_002335.4(LRP5):c.433C>T:p.Leu145Phe	coding	Pathogenic
11	68348197	C	T	C68348197T	LRP5	NM_002335.4(LRP5):c.442C>T:p.Gln148Ter	coding	Pathogenic
11	68348214	G	A	G68348214A	LRP5	NM_002335.4(LRP5):c.459G>A:p.Pro153=	coding	Benign/Likely_benign
11	68357661	G	C	G68357661C	LRP5	NM_002335.4(LRP5):c.500G>C:p.Trp167Ser	coding	Pathogenic
11	68357672	G	C	G68357672C	LRP5	NM_002335.4(LRP5):c.511G>C:p.Gly171Arg	coding	Pathogenic
11	68357673	G	T	G68357673T	LRP5	NM_002335.4(LRP5):c.512G>T:p.Gly171Val	coding	Pathogenic
11	68357801	G	A	G68357801A	LRP5	NM_002335.4(LRP5):c.640G>A:p.Ala214Thr	coding	Pathogenic
11	68357802	C	T	C68357802T	LRP5	NM_002335.4(LRP5):c.641C>T:p.Ala214Val	coding	Pathogenic
11	68357836	C	T	C68357836T	LRP5	NM_002335.4(LRP5):c.675C>T:p.Asp225=	coding	Benign
11	68363739	G	A	G68363739A	LRP5	NM_002335.4(LRP5):c.687-8G>A	noncoding	Benign
11	68363784	G	A	G68363784A	LRP5	NM_002335.4(LRP5):c.724G>A:p.Ala242Thr	coding	Pathogenic
11	68363791	C	T	C68363791T	LRP5	NM_002335.4(LRP5):c.731C>T:p.Thr244Met	coding	Pathogenic
11	68363818	C	T	C68363818T	LRP5	NM_002335.4(LRP5):c.758C>T:p.Thr253Ile	coding	Pathogenic
11	68365567	T	C	T68365567C	LRP5	NM_002335.4(LRP5):c.884-4T>C	noncoding	Benign
11	68386377	G	A	G68386377A	LRP5	NM_002335.4(LRP5):c.1077G>A:p.Thr359=	coding	Benign
11	68386445	C	T	C68386445T	LRP5	NM_002335.4(LRP5):c.1145C>T:p.Pro382Leu	coding	Pathogenic
11	68386521	G	A	G68386521A	LRP5	NM_002335.4(LRP5):c.1221G>A:p.Ala407=	coding	Benign
11	68386525	A	G	A68386525G	LRP5	NM_002335.4(LRP5):c.1225A>G:p.Thr409Ala	coding	Pathogenic
11	68386582	C	T	C68386582T	LRP5	NM_002335.4(LRP5):c.1282C>T:p.Arg428Ter	coding	Pathogenic
11	68386630	C	T	C68386630T	LRP5	NM_002335.4(LRP5):c.1330C>T:p.Arg444Cys	coding	Pathogenic
11	68386660	G	A	G68386660A	LRP5	NM_002335.4(LRP5):c.1360G>A:p.Val454Met	coding	Pathogenic
11	68386665	G	A	G68386665A	LRP5	NM_002335.4(LRP5):c.1365G>A:p.Ser455=	coding	Benign
11	68386692	C	T	C68386692T	LRP5	NM_002335.4(LRP5):c.1392C>T:p.Ile464=	coding	Benign
11	68386720	G	A	G68386720A	LRP5	NM_002335.4(LRP5):c.1412+8G>A	noncoding	Benign
11	68389921	G	T	G68389921T	LRP5	NM_002335.4(LRP5):c.1453G>T:p.Glu485Ter	coding	Pathogenic
11	68390053	G	A	G68390053A	LRP5	NM_002335.4(LRP5):c.1584+1G>A	coding	Pathogenic
11	68403545	T	C	T68403545C	LRP5	NM_002335.4(LRP5):c.1647T>C:p.Phe549=	coding	Benign
11	68403553	C	T	C68403553T	LRP5	NM_002335.4(LRP5):c.1655C>T:p.Thr552Met	coding	Pathogenic
11	68403606	C	T	C68403606T	LRP5	NM_002335.4(LRP5):c.1708C>T:p.Arg570Trp	coding	Pathogenic
11	68403607	G	A	G68403607A	LRP5	NM_002335.4(LRP5):c.1709G>A:p.Arg570Gln	coding	Pathogenic
11	68403698	C	T	C68403698T	LRP5	NM_002335.4(LRP5):c.1800C>T:p.Val600=	coding	Benign
11	68406550	G	A	G68406550A	LRP5	NM_002335.4(LRP5):c.1828G>A:p.Gly610Arg	coding	Pathogenic
11	68406654	G	A	G68406654A	LRP5	NM_002335.4(LRP5):c.1932G>A:p.Glu644=	coding	Benign
11	68406690	C	T	C68406690T	LRP5	NM_002335.4(LRP5):c.1968C>T:p.His656=	coding	Benign
11	68406721	G	A	G68406721A	LRP5	NM_002335.4(LRP5):c.1999G>A:p.Val667Met	coding	Benign/Likely_benign
11	68409955	C	T	C68409955T	LRP5	NM_002335.4(LRP5):c.2133C>T:p.His711=	coding	Benign
11	68409961	G	A	G68409961A	LRP5	NM_002335.4(LRP5):c.2139G>A:p.Val713=	coding	Benign/Likely_benign
11	68410015	C	T	C68410015T	LRP5	NM_002335.4(LRP5):c.2193C>T:p.Asn731=	coding	Benign/Likely_benign
11	68410024	G	A	G68410024A	LRP5	NM_002335.4(LRP5):c.2202G>A:p.Trp734Ter	coding	Pathogenic
11	68410042	C	T	C68410042T	LRP5	NM_002335.4(LRP5):c.2220C>T:p.Asn740=	coding	Benign
11	68410076	C	G	C68410076G	LRP5	NM_002335.4(LRP5):c.2254C>G:p.Arg752Gly	coding	Pathogenic
11	68410117	G	A	G68410117A	LRP5	NM_002335.4(LRP5):c.2295G>A:p.Ser765=	coding	Benign
11	68410146	T	C	T68410146C	LRP5	NM_002335.4(LRP5):c.2318+6T>C	noncoding	Benign
11	68411562	C	T	C68411562T	LRP5	NM_002335.4(LRP5):c.2445C>T:p.Asp815=	coding	Benign/Likely_benign
11	68411584	C	T	C68411584T	LRP5	NM_002335.4(LRP5):c.2467C>T:p.Leu823=	coding	Benign
11	68413714	C	T	C68413714T	LRP5	NM_002335.4(LRP5):c.2529C>T:p.Asp843=	coding	Benign/Likely_benign
11	68413729	G	A	G68413729A	LRP5	NM_002335.4(LRP5):c.2544G>A:p.Pro848=	coding	Benign
11	68413742	C	T	C68413742T	LRP5	NM_002335.4(LRP5):c.2557C>T:p.Gln853Ter	coding	Pathogenic
11	68413822	C	T	C68413822T	LRP5	NM_002335.4(LRP5):c.2637C>T:p.Arg879=	coding	Benign
11	68414013	G	A	G68414013A	LRP5	NM_002335.4(LRP5):c.2827+1G>A	coding	Pathogenic
11	68423693	C	T	C68423693T	LRP5	NM_002335.4(LRP5):c.3232C>T:p.Arg1078Ter	coding	Pathogenic
11	68425162	C	T	C68425162T	LRP5	NM_002335.4(LRP5):c.3297C>T:p.Asp1099=	coding	Benign
11	68425222	G	A	G68425222A	LRP5	NM_002335.4(LRP5):c.3357G>A:p.Val1119=	coding	Benign
11	68426112	C	T	C68426112T	LRP5	NM_002335.4(LRP5):c.3562C>T:p.Arg1188Trp	coding	Pathogenic
11	68426114	G	A	G68426114A	LRP5	NM_002335.4(LRP5):c.3564G>A:p.Arg1188=	coding	Benign
11	68426150	C	T	C68426150T	LRP5	NM_002335.4(LRP5):c.3600C>T:p.Gly1200=	coding	Benign
11	68429660	A	G	A68429660G	LRP5	NM_002335.4(LRP5):c.3723A>G:p.Pro1241=	coding	Benign/Likely_benign
11	68433756	G	A	G68433756A	LRP5	NM_002335.4(LRP5):c.3918G>A:p.Ala1306=	coding	Benign
11	68433827	C	T	C68433827T	LRP5	NM_002335.4(LRP5):c.3989C>T:p.Ala1330Val	coding	Benign
11	68433848	T	A	T68433848A	LRP5	NM_002335.4(LRP5):c.4000+10T>A	noncoding	Benign
11	68436945	C	T	C68436945T	LRP5	NM_002335.4(LRP5):c.4057C>T:p.Gln1353Ter	coding	Pathogenic
11	68436977	C	T	C68436977T	LRP5	NM_002335.4(LRP5):c.4089C>T:p.Asp1363=	coding	Benign/Likely_benign
11	68436987	G	A	G68436987A	LRP5	NM_002335.4(LRP5):c.4099G>A:p.Glu1367Lys	coding	Pathogenic
11	68438543	C	G	C68438543G	LRP5	NM_002335.4(LRP5):c.4209C>G:p.Val1403=	coding	Benign
11	68438612	T	C	T68438612C	LRP5	NM_002335.4(LRP5):c.4278T>C:p.Tyr1426=	coding	Benign/Likely_benign
11	68439808	C	T	C68439808T	LRP5	NM_002335.4(LRP5):c.4380C>T:p.Ser1460=	coding	Benign
11	68439859	C	T	C68439859T	LRP5	NM_002335.4(LRP5):c.4431C>T:p.His1477=	coding	Benign/Likely_benign
11	68439886	G	A	G68439886A	LRP5	NM_002335.4(LRP5):c.4458G>A:p.Ser1486=	coding	Benign
11	68439886	G	T	G68439886T	LRP5	NM_002335.4(LRP5):c.4458G>T:p.Ser1486=	coding	Benign
11	68439918	T	G	T68439918G	LRP5	NM_002335.4(LRP5):c.4488+2T>G	noncoding	Pathogenic
11	68439926	G	A	G68439926A	LRP5	NM_002335.4(LRP5):c.4488+10G>A	noncoding	Benign
11	68448809	G	C	G68448809C	LRP5	NM_002335.4(LRP5):c.4587G>C:p.Arg1529Ser	coding	Pathogenic
11	68448822	C	T	C68448822T	LRP5	NM_002335.4(LRP5):c.4600C>T:p.Arg1534Ter	coding	Pathogenic
11	68448845	G	A	G68448845A	LRP5	NM_002335.4(LRP5):c.4623G>A:p.Thr1541=	coding	Benign/Likely_benign
11	68448857	C	T	C68448857T	LRP5	NM_002335.4(LRP5):c.4635C>T:p.Thr1545=	coding	Benign/Likely_benign
11	68448873	G	A	G68448873A	LRP5	NM_002335.4(LRP5):c.4651G>A:p.Asp1551Asn	coding	Pathogenic
11	68449010	C	T	C68449010T	LRP5	NM_002335.4(LRP5):c.4788C>T:p.Thr1596=	coding	Benign/Likely_benign
11	68684970	C	T	C68684970T	GAL	NM_015973.5(GAL):c.47C>T:p.Ala16Val	coding	Benign
11	68685628	C	A	C68685628A	GAL	NM_015973.5(GAL):c.116C>A:p.Ala39Glu	coding	Pathogenic
11	68690976	G	A	G68690976A	GAL	NM_015973.5(GAL):c.361G>A:p.Glu121Lys	coding	Benign
11	68690979	C	T	C68690979T	GAL	NM_015973.5(GAL):c.364C>T:p.Arg122Trp	coding	Benign
11	68759648	C	T	C68759648T	CPT1A	NM_001876.4(CPT1A):c.2156G>A:p.Gly719Asp	coding	Pathogenic
11	68760217	G	A	G68760217A	CPT1A	NM_001876.4(CPT1A):c.2142+8C>T	noncoding	Benign/Likely_benign
11	68760238	C	T	C68760238T	CPT1A	NM_001876.4(CPT1A):c.2129G>A:p.Gly710Glu	coding	Pathogenic/Likely_pathogenic
11	68760241	C	T	C68760241T	CPT1A	NM_001876.4(CPT1A):c.2126G>A:p.Gly709Glu	coding	Pathogenic
11	68761559	A	G	A68761559G	CPT1A	NM_001876.4(CPT1A):c.2004T>C:p.Ala668=	coding	Benign
11	68761622	G	C	G68761622C	CPT1A	NM_001876.4(CPT1A):c.1941C>G:p.Ala647=	coding	Benign
11	68761655	C	T	C68761655T	CPT1A	NM_001876.4(CPT1A):c.1908G>A:p.Ala636=	coding	Benign
11	68761910	C	G	C68761910G	CPT1A	NM_001876.4(CPT1A):c.1876-223G>C	noncoding	Benign
11	68762710	G	A	G68762710A	CPT1A	NM_001876.4(CPT1A):c.1792C>T:p.Arg598Ter	coding	Pathogenic
11	68773268	G	T	G68773268T	CPT1A	NM_001876.4(CPT1A):c.1737C>A:p.Tyr579Ter	coding	Pathogenic
11	68775308	G	A	G68775308A	CPT1A	NM_001876.4(CPT1A):c.1575+8C>T	noncoding	Benign/Likely_benign
11	68775362	G	A	G68775362A	CPT1A	NM_001876.4(CPT1A):c.1529C>T:p.Pro510Leu	coding	Benign
11	68775397	A	C	A68775397C	CPT1A	NM_001876.4(CPT1A):c.1494T>G:p.Tyr498Ter	coding	Pathogenic
11	68775397	A	T	A68775397T	CPT1A	NM_001876.4(CPT1A):c.1494T>A:p.Tyr498Ter	coding	Pathogenic
11	68780647	A	G	A68780647G	CPT1A	NM_001876.4(CPT1A):c.1451T>C:p.Leu484Pro	coding	Pathogenic
11	68780662	G	A	G68780662A	CPT1A	NM_001876.4(CPT1A):c.1436C>T:p.Pro479Leu	coding	Pathogenic
11	68780673	C	T	C68780673T	CPT1A	NM_001876.4(CPT1A):c.1425G>A:p.Trp475Ter	coding	Pathogenic
11	68780705	C	A	C68780705A	CPT1A	NM_001876.4(CPT1A):c.1393G>T:p.Gly465Trp	coding	Pathogenic
11	68780737	T	C	T68780737C	CPT1A	NM_001876.4(CPT1A):c.1361A>G:p.Asp454Gly	coding	Pathogenic
11	68781784	G	A	G68781784A	CPT1A	NM_001876.4(CPT1A):c.1339C>T:p.Arg447Ter	coding	Pathogenic
11	68781872	A	G	A68781872G	CPT1A	NM_001876.4(CPT1A):c.1251T>C:p.Phe417=	coding	Benign
11	68781882	G	A	G68781882A	CPT1A	NM_001876.4(CPT1A):c.1241C>T:p.Ala414Val	coding	Pathogenic
11	68781907	G	A	G68781907A	CPT1A	NM_001876.4(CPT1A):c.1216C>T:p.Gln406Ter	coding	Pathogenic
11	68784814	C	T	C68784814T	CPT1A	NM_001876.4(CPT1A):c.1163+1G>A	noncoding	Pathogenic
11	68784899	T	C	T68784899C	CPT1A	NM_001876.4(CPT1A):c.1079A>G:p.Glu360Gly	coding	Pathogenic
11	68784909	G	A	G68784909A	CPT1A	NM_001876.4(CPT1A):c.1069C>T:p.Arg357Trp	coding	Pathogenic
11	68784923	C	T	C68784923T	CPT1A	NM_001876.4(CPT1A):c.1055G>A:p.Arg352Gln	coding	Benign
11	68784951	A	C	A68784951C	CPT1A	NM_001876.4(CPT1A):c.1027T>G:p.Phe343Val	coding	Pathogenic
11	68785018	G	A	G68785018A	CPT1A	NM_001876.4(CPT1A):c.968-8C>T	noncoding	Benign
11	68793312	C	T	C68793312T	CPT1A	NM_001876.4(CPT1A):c.967+3G>A	noncoding	Benign
11	68793319	C	T	C68793319T	CPT1A	NM_001876.4(CPT1A):c.963G>A:p.Glu321=	coding	Benign
11	68793341	G	A	G68793341A	CPT1A	NM_001876.4(CPT1A):c.941C>T:p.Thr314Ile	coding	Pathogenic
11	68793370	G	C	G68793370C	CPT1A	NM_001876.4(CPT1A):c.912C>G:p.Cys304Trp	coding	Pathogenic
11	68794820	C	T	C68794820T	CPT1A	NM_001876.4(CPT1A):c.863G>A:p.Arg288Gln	coding	Benign
11	68794860	C	T	C68794860T	CPT1A	NM_001876.4(CPT1A):c.823G>A:p.Ala275Thr	coding	Benign
11	68796894	G	A	G68796894A	CPT1A	NM_001876.4(CPT1A):c.733C>T:p.Arg245Ter	coding	Pathogenic
11	68799371	G	A	G68799371A	CPT1A	NM_001876.4(CPT1A):c.556-16C>T	noncoding	Benign
11	68799374	A	C	A68799374C	CPT1A	NM_001876.4(CPT1A):c.556-19T>G	noncoding	Benign
11	68804037	C	T	C68804037T	CPT1A	NM_001876.4(CPT1A):c.518G>A:p.Arg173His	coding	Benign
11	68804077	G	A	G68804077A	CPT1A	NM_001876.4(CPT1A):c.478C>T:p.Arg160Ter	coding	Pathogenic
11	68804309	G	A	G68804309A	CPT1A	NM_001876.4(CPT1A):c.454-208C>T	noncoding	Benign
11	68807458	C	T	C68807458T	CPT1A	NM_001876.4(CPT1A):c.453+9G>A	noncoding	Benign/Likely_benign
11	68807584	G	A	G68807584A	CPT1A	NM_001876.4(CPT1A):c.336C>T:p.Thr112=	coding	Benign
11	68807622	G	A	G68807622A	CPT1A	NM_001876.4(CPT1A):c.298C>T:p.Gln100Ter	coding	Pathogenic/Likely_pathogenic
11	68812436	C	T	C68812436T	CPT1A	NM_001876.4(CPT1A):c.281+1G>A	noncoding	Pathogenic
11	68812478	C	T	C68812478T	CPT1A	NM_001876.4(CPT1A):c.240G>A:p.Ser80=	coding	Benign
11	68812496	G	T	G68812496T	CPT1A	NM_001876.4(CPT1A):c.222C>A:p.Tyr74Ter	coding	Pathogenic/Likely_pathogenic
11	68812551	G	A	G68812551A	CPT1A	NM_001876.4(CPT1A):c.167C>T:p.Pro56Leu	coding	Pathogenic
11	68815379	A	C	A68815379C	CPT1A	NM_001876.4(CPT1A):c.96T>G:p.Tyr32Ter	coding	Pathogenic
11	68903636	A	G	A68903636G	IGHMBP2	NM_181514.2(MRPL21):c.88+87T>C	noncoding	Benign
11	68903885	T	C	T68903885C	IGHMBP2	NM_002180.2(IGHMBP2):c.-68T>C	noncoding	Benign
11	68903925	C	A	C68903925A	IGHMBP2	NM_002180.2(IGHMBP2):c.-28C>A	noncoding	Benign
11	68903951	C	T	C68903951T	IGHMBP2	NM_002180.3(IGHMBP2):c.-2C>T	noncoding	Benign
11	68903954	T	C	T68903954C	IGHMBP2	NM_002180.2(IGHMBP2):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
11	68903988	G	T	G68903988T	IGHMBP2	NM_002180.3(IGHMBP2):c.36G>T:p.Lys12Asn	coding	Benign
11	68904009	T	C	T68904009C	IGHMBP2	NM_002180.3(IGHMBP2):c.57T>C:p.Leu19=	coding	Benign
11	68904045	G	C	G68904045C	IGHMBP2	NM_002180.3(IGHMBP2):c.86+7G>C	noncoding	Benign/Likely_benign
11	68905801	A	T	A68905801T	IGHMBP2	NM_002180.2(IGHMBP2):c.87-268A>T	noncoding	Benign
11	68906074	G	A	G68906074A	IGHMBP2	NM_002180.2(IGHMBP2):c.92G>A:p.Trp31Ter	coding	Pathogenic
11	68906103	C	T	C68906103T	IGHMBP2	NM_002180.2(IGHMBP2):c.121C>T:p.Gln41Ter	coding	Pathogenic
11	68906109	C	T	C68906109T	IGHMBP2	NM_002180.3(IGHMBP2):c.127C>T:p.Arg43Ter	coding	Pathogenic
11	68906114	C	T	C68906114T	IGHMBP2	NM_002180.2(IGHMBP2):c.132C>T:p.Gly44=	coding	Benign/Likely_benign
11	68906120	T	A	T68906120A	IGHMBP2	NM_002180.2(IGHMBP2):c.138T>A:p.Cys46Ter	coding	Pathogenic
11	68906145	C	T	C68906145T	IGHMBP2	NM_002180.2(IGHMBP2):c.163C>T:p.Gln55Ter	coding	Pathogenic
11	68906162	C	T	C68906162T	IGHMBP2	NM_002180.3(IGHMBP2):c.180C>T:p.Tyr60=	coding	Benign/Likely_benign
11	68906198	C	G	C68906198G	IGHMBP2	NM_002180.3(IGHMBP2):c.216C>G:p.Tyr72Ter	coding	Pathogenic
11	68906205	G	A	G68906205A	IGHMBP2	NM_002180.2(IGHMBP2):c.223G>A:p.Ala75Thr	coding	Benign
11	68906247	G	A	G68906247A	IGHMBP2	NM_002180.2(IGHMBP2):c.256+9G>A	noncoding	Benign/Likely_benign
11	68908029	C	T	C68908029T	IGHMBP2	NM_002180.2(IGHMBP2):c.257-116C>T	noncoding	Benign
11	68908044	G	C	G68908044C	IGHMBP2	NM_002180.2(IGHMBP2):c.257-101G>C	noncoding	Benign
11	68908164	C	T	C68908164T	IGHMBP2	NM_002180.2(IGHMBP2):c.276C>T:p.Tyr92=	coding	Benign/Likely_benign
11	68908232	C	T	C68908232T	IGHMBP2	NM_002180.2(IGHMBP2):c.344C>T:p.Thr115Met	coding	Benign/Likely_benign
11	68908254	C	T	C68908254T	IGHMBP2	NM_002180.2(IGHMBP2):c.366C>T:p.His122=	coding	Benign
11	68908276	C	T	C68908276T	IGHMBP2	NM_002180.2(IGHMBP2):c.388C>T:p.Arg130Ter	coding	Pathogenic/Likely_pathogenic
11	68908327	C	T	C68908327T	IGHMBP2	NM_002180.2(IGHMBP2):c.439C>T:p.Arg147Ter	coding	Pathogenic
11	68908338	G	A	G68908338A	IGHMBP2	NM_002180.2(IGHMBP2):c.449+1G>A	coding	Pathogenic
11	68908338	G	T	G68908338T	IGHMBP2	NM_002180.2(IGHMBP2):c.449+1G>T	coding	Pathogenic/Likely_pathogenic
11	68908462	G	T	G68908462T	IGHMBP2	NM_002180.2(IGHMBP2):c.450-72G>T	noncoding	Benign
11	68911166	C	T	C68911166T	IGHMBP2	NM_002180.2(IGHMBP2):c.548-274C>T	noncoding	Benign
11	68911250	G	T	G68911250T	IGHMBP2	NM_002180.2(IGHMBP2):c.548-190G>T	noncoding	Benign
11	68911494	T	C	T68911494C	IGHMBP2	NM_002180.3(IGHMBP2):c.602T>C:p.Leu201Ser	coding	Benign
11	68911539	C	A	C68911539A	IGHMBP2	NM_002180.3(IGHMBP2):c.647C>A:p.Pro216His	coding	Pathogenic
11	68911599	T	G	T68911599G	IGHMBP2	NM_002180.2(IGHMBP2):c.707T>G:p.Leu236Ter	coding	Pathogenic
11	68914837	C	G	C68914837G	IGHMBP2	NM_002180.2(IGHMBP2):c.726C>G:p.Ala242=	coding	Benign
11	68914934	A	G	A68914934G	IGHMBP2	NM_002180.3(IGHMBP2):c.823A>G:p.Ile275Val	coding	Benign
11	68914937	C	T	C68914937T	IGHMBP2	NM_002180.2(IGHMBP2):c.826C>T:p.Gln276Ter	coding	Pathogenic
11	68917423	G	A	G68917423A	IGHMBP2	NM_002180.2(IGHMBP2):c.913-313G>A	noncoding	Benign
11	68917885	T	C	T68917885C	IGHMBP2	NM_002180.2(IGHMBP2):c.1060+2T>C	noncoding	Pathogenic
11	68929204	T	C	T68929204C	IGHMBP2	NM_002180.2(IGHMBP2):c.1082T>C:p.Leu361Pro	coding	Pathogenic
11	68929229	C	G	C68929229G	IGHMBP2	NM_002180.2(IGHMBP2):c.1107C>G:p.Phe369Leu	coding	Pathogenic
11	68929240	T	G	T68929240G	IGHMBP2	NM_002180.2(IGHMBP2):c.1118T>G:p.Val373Gly	coding	Pathogenic
11	68929271	G	A	G68929271A	IGHMBP2	NM_002180.3(IGHMBP2):c.1149G>A:p.Ala383=	coding	Benign
11	68929278	T	C	T68929278C	IGHMBP2	NM_002180.2(IGHMBP2):c.1156T>C:p.Trp386Arg	coding	Pathogenic/Likely_pathogenic
11	68929324	A	G	A68929324G	IGHMBP2	NM_002180.2(IGHMBP2):c.1202A>G:p.His401Arg	coding	Pathogenic
11	68929505	A	G	A68929505G	IGHMBP2	NM_002180.2(IGHMBP2):c.1235+148A>G	noncoding	Benign
11	68929868	T	C	T68929868C	IGHMBP2	NM_002180.3(IGHMBP2):c.1235+511T>C	noncoding	Benign
11	68929876	C	T	C68929876T	IGHMBP2	NM_002180.3(IGHMBP2):c.1235+519C>T	noncoding	Benign
11	68930251	C	A	C68930251A	IGHMBP2	NM_002180.2(IGHMBP2):c.1235+894C>A	noncoding	Pathogenic
11	68933357	G	A	G68933357A	IGHMBP2	NM_002180.2(IGHMBP2):c.1294G>A:p.Ala432Thr	coding	Benign/Likely_benign
11	68933399	C	T	C68933399T	IGHMBP2	NM_002180.2(IGHMBP2):c.1336C>T:p.Gln446Ter	coding	Pathogenic/Likely_pathogenic
11	68933499	A	G	A68933499G	IGHMBP2	NM_002180.2(IGHMBP2):c.1418+18A>G	noncoding	Benign
11	68933650	C	T	C68933650T	IGHMBP2	NM_002180.2(IGHMBP2):c.1419-145C>T	noncoding	Benign
11	68933854	C	T	C68933854T	IGHMBP2	NM_002180.2(IGHMBP2):c.1478C>T:p.Thr493Ile	coding	Pathogenic/Likely_pathogenic
11	68933864	C	A	C68933864A	IGHMBP2	NM_002180.2(IGHMBP2):c.1488C>A:p.Cys496Ter	coding	Pathogenic/Likely_pathogenic
11	68933892	G	T	G68933892T	IGHMBP2	NM_002180.2(IGHMBP2):c.1516G>T:p.Glu506Ter	coding	Pathogenic
11	68934111	T	C	T68934111C	IGHMBP2	NM_002180.2(IGHMBP2):c.1537+198T>C	noncoding	Benign
11	68934444	C	T	C68934444T	IGHMBP2	NM_002180.2(IGHMBP2):c.1538-20C>T	noncoding	Benign/Likely_benign
11	68934456	C	G	C68934456G	IGHMBP2	NM_002180.2(IGHMBP2):c.1538-8C>G	noncoding	Benign
11	68934466	G	A	G68934466A	IGHMBP2	NM_002180.2(IGHMBP2):c.1540G>A:p.Glu514Lys	coding	Pathogenic
11	68934480	C	T	C68934480T	IGHMBP2	NM_002180.3(IGHMBP2):c.1554C>T:p.Val518=	coding	Benign
11	68934507	C	T	C68934507T	IGHMBP2	NM_002180.2(IGHMBP2):c.1581C>T:p.Asp527=	coding	Benign/Likely_benign
11	68935164	C	T	C68935164T	IGHMBP2	NM_002180.2(IGHMBP2):c.1633-135C>T	noncoding	Benign
11	68935359	G	A	G68935359A	IGHMBP2	NM_002180.2(IGHMBP2):c.1693G>A:p.Asp565Asn	coding	Pathogenic/Likely_pathogenic
11	68935374	C	T	C68935374T	IGHMBP2	NM_002180.2(IGHMBP2):c.1708C>T:p.Arg570Ter	coding	Pathogenic
11	68936219	C	A	C68936219A	IGHMBP2	NM_002180.2(IGHMBP2):c.1757-18C>A	noncoding	Benign
11	68936250	T	C	T68936250C	IGHMBP2	NM_002180.2(IGHMBP2):c.1770T>C:p.Phe590=	coding	Benign/Likely_benign
11	68936293	C	T	C68936293T	IGHMBP2	NM_002180.2(IGHMBP2):c.1813C>T:p.Arg605Ter	coding	Pathogenic
11	68936301	C	T	C68936301T	IGHMBP2	NM_002180.2(IGHMBP2):c.1821C>T:p.His607=	coding	Benign/Likely_benign
11	68936307	G	A	G68936307A	IGHMBP2	NM_002180.2(IGHMBP2):c.1827G>A:p.Ala609=	coding	Benign/Likely_benign
11	68936419	G	A	G68936419A	IGHMBP2	NM_002180.2(IGHMBP2):c.1939G>A:p.Val647Ile	coding	Benign
11	68936491	A	G	A68936491G	IGHMBP2	NM_002180.2(IGHMBP2):c.2011A>G:p.Thr671Ala	coding	Benign
11	68936505	C	T	C68936505T	IGHMBP2	NM_002180.2(IGHMBP2):c.2025C>T:p.Thr675=	coding	Benign/Likely_benign
11	68936560	C	T	C68936560T	IGHMBP2	NM_002180.3(IGHMBP2):c.2080C>T:p.Arg694Trp	coding	Benign
11	68936571	G	A	G68936571A	IGHMBP2	NM_002180.2(IGHMBP2):c.2091G>A:p.Pro697=	coding	Benign/Likely_benign
11	68936775	C	T	C68936775T	IGHMBP2	NM_002180.2(IGHMBP2):c.2295C>T:p.His765=	coding	Benign/Likely_benign
11	68936796	C	T	C68936796T	IGHMBP2	NM_002180.2(IGHMBP2):c.2316C>T:p.Ser772=	coding	Benign
11	68936802	A	G	A68936802G	IGHMBP2	NM_002180.2(IGHMBP2):c.2322A>G:p.Glu774=	coding	Benign
11	68936848	C	T	C68936848T	IGHMBP2	NM_002180.2(IGHMBP2):c.2368C>T:p.Arg790Ter	coding	Pathogenic
11	68936919	G	A	G68936919A	IGHMBP2	NM_002180.2(IGHMBP2):c.2439G>A:p.Ala813=	coding	Benign
11	68937012	G	A	G68937012A	IGHMBP2	NM_002180.2(IGHMBP2):c.2532G>A:p.Ala844=	coding	Benign
11	68937040	C	T	C68937040T	IGHMBP2	NM_002180.2(IGHMBP2):c.2560C>T:p.Gln854Ter	coding	Pathogenic
11	68937055	C	T	C68937055T	IGHMBP2	NM_002180.2(IGHMBP2):c.2575C>T:p.Gln859Ter	coding	Pathogenic
11	68937092	G	A	G68937092A	IGHMBP2	NM_002180.3(IGHMBP2):c.2611+1G>A	coding	Pathogenic
11	68937092	G	T	G68937092T	IGHMBP2	NM_002180.2(IGHMBP2):c.2611+1G>T	coding	Pathogenic/Likely_pathogenic
11	68938206	C	A	C68938206A	IGHMBP2	NM_002180.3(IGHMBP2):c.2636C>A:p.Thr879Lys	coding	Benign
11	68938300	C	G	C68938300G	IGHMBP2	NM_002180.2(IGHMBP2):c.2730C>G:p.Gly910=	coding	Benign/Likely_benign
11	68938352	G	A	G68938352A	IGHMBP2	NM_002180.2(IGHMBP2):c.2782G>A:p.Glu928Lys	coding	Benign
11	68938408	G	A	G68938408A	IGHMBP2	NM_002180.3(IGHMBP2):c.2784+54G>A	noncoding	Benign
11	68938468	T	G	T68938468G	IGHMBP2	NM_002180.2(IGHMBP2):c.2784+114T>G	noncoding	Benign
11	68939291	C	T	C68939291T	IGHMBP2	NM_002180.2(IGHMBP2):c.2785-243C>T	noncoding	Benign
11	68939380	G	A	G68939380A	IGHMBP2	NM_002180.2(IGHMBP2):c.2785-154G>A	noncoding	Benign
11	68939619	A	G	A68939619G	IGHMBP2	NM_002180.3(IGHMBP2):c.2870A>G:p.Lys957Arg	coding	Benign
11	68939632	G	A	G68939632A	IGHMBP2	NM_002180.2(IGHMBP2):c.2883G>A:p.Leu961=	coding	Benign/Likely_benign
11	68939728	G	A	G68939728A	IGHMBP2	NM_002180.2(IGHMBP2):c.2979G>A:p.Thr993=	coding	Benign/Likely_benign
11	68939734	G	A	G68939734A	IGHMBP2	NM_002180.2(IGHMBP2):c.*3G>A	noncoding	Benign/Likely_benign
11	68939753	C	T	C68939753T	IGHMBP2	NM_002180.2(IGHMBP2):c.*22C>T	noncoding	Benign/Likely_benign
11	68939986	T	C	T68939986C	IGHMBP2	NM_002180.2(IGHMBP2):c.*255T>C	noncoding	Benign
11	68940158	C	T	C68940158T	IGHMBP2	NM_002180.2(IGHMBP2):c.*427C>T	noncoding	Benign
11	68940396	C	T	C68940396T	IGHMBP2	NM_002180.2(IGHMBP2):c.*665C>T	noncoding	Benign
11	68940412	T	C	T68940412C	IGHMBP2	NM_002180.2(IGHMBP2):c.*681T>C	noncoding	Benign
11	68940475	G	A	G68940475A	IGHMBP2	NM_002180.2(IGHMBP2):c.*744G>A	noncoding	Benign
11	69006087	T	C	T69006087C	MRGPRF	NM_145015.5(MRGPRF):c.223A>G:p.Arg75Gly	coding	Benign
11	69009869	G	A	G69009869A	MRGPRF	NM_145015.5(MRGPRF):c.33C>T:p.Pro11=	coding	Benign
11	69054787	G	A	G69054787A	TPCN2	NM_139075.4(TPCN2):c.241G>A:p.Val81Ile	coding	Benign
11	69054796	C	T	C69054796T	TPCN2	NM_139075.4(TPCN2):c.250C>T:p.Arg84Trp	coding	Benign
11	69055190	C	T	C69055190T	TPCN2	NM_139075.4(TPCN2):c.267C>T:p.Thr89=	coding	Benign
11	69063952	G	A	G69063952A	TPCN2	NM_139075.4(TPCN2):c.711G>A:p.Leu237=	coding	Benign
11	69078547	C	T	C69078547T	TPCN2	NM_139075.4(TPCN2):c.1296C>T:p.Tyr432=	coding	Benign
11	69081463	C	T	C69081463T	TPCN2	NM_139075.4(TPCN2):c.1653C>T:p.Ile551=	coding	Benign
11	69086561	C	T	C69086561T	TPCN2	NM_139075.4(TPCN2):c.2042C>T:p.Ser681Leu	coding	Benign
11	69651129	G	A	G69651129A	CCND1	NM_053056.3(CCND1):c.735G>A:p.Arg245=	coding	Benign
11	69671823	T	G	T69671823G	LTO1	NM_153451.3(LTO1):c.157-4A>C	noncoding	Benign
11	69774016	G	A	G69774016A	FGF4	NM_002007.4(FGF4):c.444+8C>T	noncoding	Benign
11	69810377	G	A	G69810377A	FGF3	NM_005247.4(FGF3):c.648C>T:p.Ser216=	coding	Benign
11	69810396	C	T	C69810396T	FGF3	NM_005247.4(FGF3):c.629G>A:p.Arg210Gln	coding	Benign
11	69810559	A	G	A69810559G	FGF3	NM_005247.4(FGF3):c.466T>C:p.Ser156Pro	coding	Pathogenic
11	69810617	C	T	C69810617T	FGF3	NM_005247.4(FGF3):c.408G>A:p.Thr136=	coding	Benign
11	69810705	G	A	G69810705A	FGF3	NM_005247.4(FGF3):c.325-5C>T	noncoding	Benign
11	69816327	T	C	T69816327C	FGF3	NM_005247.4(FGF3):c.317A>G:p.Tyr106Cys	coding	Pathogenic
11	69816334	G	A	G69816334A	FGF3	NM_005247.4(FGF3):c.310C>T:p.Arg104Ter	coding	Pathogenic
11	69816341	C	G	C69816341G	FGF3	NM_005247.4(FGF3):c.303G>C:p.Lys101Asn	coding	Benign
11	69818738	C	A	C69818738A	FGF3	NM_005247.4(FGF3):c.196G>T:p.Gly66Cys	coding	Pathogenic
11	69818784	G	T	G69818784T	FGF3	NM_005247.4(FGF3):c.150C>A:p.Cys50Ter	coding	Pathogenic
11	69818788	T	C	T69818788C	FGF3	NM_005247.4(FGF3):c.146A>G:p.Tyr49Cys	coding	Pathogenic
11	69818865	C	A	C69818865A	FGF3	NM_005247.4(FGF3):c.69G>T:p.Ala23=	coding	Benign
11	69818917	A	G	A69818917G	FGF3	NM_005247.4(FGF3):c.17T>C:p.Leu6Pro	coding	Pathogenic
11	70087886	G	A	G70087886A	ANO1	NM_018043.6(ANO1):c.243G>A:p.Arg81=	coding	Benign
11	70156939	T	C	T70156939C	ANO1	NM_018043.6(ANO1):c.1504-8T>C	noncoding	Benign
11	70161229	C	T	C70161229T	ANO1	NM_018043.6(ANO1):c.1647C>T:p.Ala549=	coding	Benign
11	70161692	T	C	T70161692C	ANO1	NM_018043.6(ANO1):c.1851T>C:p.Asn617=	coding	Benign
11	70187896	G	A	G70187896A	ANO1	NM_018043.6(ANO1):c.2853G>A:p.Lys951=	coding	Benign
11	70187959	C	T	C70187959T	ANO1	NM_018043.6(ANO1):c.2916C>T:p.Leu972=	coding	Benign
11	70203468	G	T	G70203468T	FADD	NM_003824.4(FADD):c.9G>T:p.Pro3=	coding	Benign
11	70203552	G	T	G70203552T	FADD	NM_003824.3(FADD):c.93G>T:p.Val31=	coding	Benign
11	70206161	T	G	T70206161G	FADD	NM_003824.3(FADD):c.315T>G:p.Cys105Trp	coding	Pathogenic
11	70354410	C	T	C70354410T	PPFIA1	NM_003626.4(PPFIA1):c.2273C>T:p.Ala758Val	coding	Benign
11	70372241	C	T	C70372241T	PPFIA1	NM_003626.4(PPFIA1):c.2892C>T:p.His964=	coding	Benign
11	70422974	G	A	G70422974A	CTTN	NM_005231.4(CTTN):c.936G>A:p.Val312=	coding	Benign
11	70433669	C	T	C70433669T	CTTN	NM_005231.4(CTTN):c.1467C>T:p.Tyr489=	coding	Benign
11	70473268	C	T	C70473268T	SHANK2	NM_012309.4(SHANK2):c.5151G>A:p.Met1717Ile	coding	Benign/Likely_benign
11	70473394	C	T	C70473394T	SHANK2	NM_133266.5(SHANK2):c.3261G>A:p.Thr1087=	coding	Benign
11	70473398	G	A	G70473398A	SHANK2	NM_012309.4(SHANK2):c.5021C>T:p.Thr1674Met	coding	Benign/Likely_benign
11	70473428	A	G	A70473428G	SHANK2	NM_012309.4(SHANK2):c.4991T>C:p.Ile1664Thr	coding	Benign/Likely_benign
11	70486021	G	A	G70486021A	SHANK2	NM_133266.5(SHANK2):c.2508C>T:p.Pro836=	coding	Benign/Likely_benign
11	70486141	C	T	C70486141T	SHANK2	NM_133266.5(SHANK2):c.2388G>A:p.Ala796=	coding	Benign
11	70486846	C	T	C70486846T	SHANK2	NM_133266.5(SHANK2):c.1683G>A:p.Thr561=	coding	Benign
11	70486942	G	C	G70486942C	SHANK2	NM_133266.5(SHANK2):c.1587C>G:p.Pro529=	coding	Benign
11	70487188	G	A	G70487188A	SHANK2	NM_133266.5(SHANK2):c.1341C>T:p.Ile447=	coding	Benign
11	70487724	C	T	C70487724T	SHANK2	NM_133266.5(SHANK2):c.809-4G>A	noncoding	Benign
11	70492398	C	T	C70492398T	SHANK2	NM_133266.5(SHANK2):c.612G>A:p.Pro204=	coding	Benign
11	70820660	C	T	C70820660T	SHANK2	NM_012309.4(SHANK2):c.1197G>A:p.Ala399=	coding	Benign
11	71118963	G	A	G71118963A	SHANK2	NM_012309.4(SHANK2):c.277C>T:p.Gln93Ter	coding	Pathogenic
11	71434641	T	C	T71434641C	DHCR7	NM_001360.2(DHCR7):c.*734A>G	noncoding	Benign
11	71434732	G	A	G71434732A	DHCR7	NM_001360.2(DHCR7):c.*643C>T	noncoding	Benign
11	71434895	G	A	G71434895A	DHCR7	NM_001360.2(DHCR7):c.*480C>T	noncoding	Benign
11	71435394	A	T	A71435394T	DHCR7	NM_001360.2(DHCR7):c.1409T>A:p.Leu470Gln	coding	Pathogenic/Likely_pathogenic
11	71435407	C	T	C71435407T	DHCR7	NM_001360.2(DHCR7):c.1396G>A:p.Val466Met	coding	Pathogenic/Likely_pathogenic
11	71435461	C	T	C71435461T	DHCR7	NM_001360.2(DHCR7):c.1342G>A:p.Glu448Lys	coding	Pathogenic/Likely_pathogenic
11	71435466	C	T	C71435466T	DHCR7	NM_001360.2(DHCR7):c.1337G>A:p.Arg446Gln	coding	Pathogenic/Likely_pathogenic
11	71435475	C	T	C71435475T	DHCR7	NM_001163817.2(DHCR7):c.1328G>A:p.Arg443His	coding	Pathogenic/Likely_pathogenic
11	71435478	T	C	T71435478C	DHCR7	NM_001360.3(DHCR7):c.1325A>G:p.His442Arg	coding	Pathogenic
11	71435531	G	A	G71435531A	DHCR7	NM_001360.2(DHCR7):c.1272C>T:p.Gly424=	coding	Benign
11	71435575	C	T	C71435575T	DHCR7	NM_001360.2(DHCR7):c.1228G>A:p.Gly410Ser	coding	Pathogenic
11	71435593	G	A	G71435593A	DHCR7	NM_001360.2(DHCR7):c.1210C>T:p.Arg404Cys	coding	Pathogenic
11	71435613	G	A	G71435613A	DHCR7	NM_001360.2(DHCR7):c.1190C>T:p.Ser397Leu	coding	Pathogenic/Likely_pathogenic
11	71435645	A	G	A71435645G	DHCR7	NM_001360.2(DHCR7):c.1158T>C:p.Asp386=	coding	Benign
11	71435664	C	T	C71435664T	DHCR7	NM_001360.2(DHCR7):c.1139G>A:p.Cys380Tyr	coding	Pathogenic/Likely_pathogenic
11	71435748	C	T	C71435748T	DHCR7	NM_001360.2(DHCR7):c.1055G>A:p.Arg352Gln	coding	Pathogenic
11	71435749	G	A	G71435749A	DHCR7	NM_001360.2(DHCR7):c.1054C>T:p.Arg352Trp	coding	Pathogenic
11	71435795	G	A	G71435795A	DHCR7	NM_001360.2(DHCR7):c.1008C>T:p.His336=	coding	Benign/Likely_benign
11	71435827	C	A	C71435827A	DHCR7	NM_001360.2(DHCR7):c.976G>T:p.Val326Leu	coding	Pathogenic
11	71435840	C	A	C71435840A	DHCR7	NM_001163817.2(DHCR7):c.964-1G>T	coding	Pathogenic/Likely_pathogenic
11	71435840	C	G	C71435840G	DHCR7	NM_001360.3(DHCR7):c.964-1G>C	coding	Pathogenic/Likely_pathogenic
11	71437869	G	C	G71437869C	DHCR7	NM_001360.2(DHCR7):c.906C>G:p.Phe302Leu	coding	Pathogenic/Likely_pathogenic
11	71437873	T	C	T71437873C	DHCR7	NM_001360.2(DHCR7):c.902A>G:p.His301Arg	coding	Pathogenic
11	71437905	C	T	C71437905T	DHCR7	NM_001360.2(DHCR7):c.870G>A:p.Trp290Ter	coding	Pathogenic/Likely_pathogenic
11	71437909	G	A	G71437909A	DHCR7	NM_001360.2(DHCR7):c.866C>T:p.Thr289Ile	coding	Pathogenic/Likely_pathogenic
11	71437934	C	T	C71437934T	DHCR7	NM_001360.2(DHCR7):c.841G>A:p.Val281Met	coding	Pathogenic/Likely_pathogenic
11	71437944	C	G	C71437944G	DHCR7	NM_001360.2(DHCR7):c.832-1G>C	coding	Pathogenic
11	71438966	C	A	C71438966A	DHCR7	NM_001360.2(DHCR7):c.744G>T:p.Trp248Cys	coding	Pathogenic
11	71438970	G	A	G71438970A	DHCR7	NM_001360.2(DHCR7):c.740C>T:p.Ala247Val	coding	Pathogenic/Likely_pathogenic
11	71438980	C	T	C71438980T	DHCR7	NM_001360.2(DHCR7):c.730G>A:p.Gly244Arg	coding	Pathogenic
11	71438985	C	T	C71438985T	DHCR7	NM_001163817.2(DHCR7):c.725G>A:p.Arg242His	coding	Pathogenic/Likely_pathogenic
11	71438986	G	A	G71438986A	DHCR7	NM_001360.3(DHCR7):c.724C>T:p.Arg242Cys	coding	Pathogenic/Likely_pathogenic
11	71439014	C	T	C71439014T	DHCR7	NM_001360.3(DHCR7):c.696G>A:p.Trp232Ter	coding	Pathogenic
11	71439059	G	T	G71439059T	DHCR7	NM_001360.2(DHCR7):c.651C>A:p.Tyr217Ter	coding	Pathogenic
11	71439112	A	C	A71439112C	DHCR7	NM_001163817.2(DHCR7):c.627-29T>G	noncoding	Benign
11	71439171	C	T	C71439171T	DHCR7	NM_001360.2(DHCR7):c.627-88G>A	noncoding	Benign
11	71439201	C	T	C71439201T	DHCR7	NM_001360.2(DHCR7):c.627-118G>A	noncoding	Benign
11	71439250	C	T	C71439250T	DHCR7	NM_001360.2(DHCR7):c.627-167G>A	noncoding	Benign
11	71441212	C	T	C71441212T	DHCR7	NM_001360.2(DHCR7):c.626+15G>A	noncoding	Benign
11	71441283	G	A	G71441283A	DHCR7	NM_001360.2(DHCR7):c.570C>T:p.Ala190=	coding	Benign/Likely_benign
11	71441304	G	A	G71441304A	DHCR7	NM_001360.2(DHCR7):c.549C>T:p.Cys183=	coding	Benign/Likely_benign
11	71441307	C	T	C71441307T	DHCR7	NM_001360.2(DHCR7):c.546G>A:p.Trp182Ter	coding	Pathogenic/Likely_pathogenic
11	71441383	A	G	A71441383G	DHCR7	NM_001360.2(DHCR7):c.470T>C:p.Leu157Pro	coding	Pathogenic/Likely_pathogenic
11	71441392	G	A	G71441392A	DHCR7	NM_001360.2(DHCR7):c.461C>T:p.Thr154Met	coding	Pathogenic/Likely_pathogenic
11	71441400	C	T	C71441400T	DHCR7	NM_001360.2(DHCR7):c.453G>A:p.Trp151Ter	coding	Pathogenic
11	71441401	C	T	C71441401T	DHCR7	NM_001360.3(DHCR7):c.452G>A:p.Trp151Ter	coding	Pathogenic/Likely_pathogenic
11	71441413	C	T	C71441413T	DHCR7	NM_001360.2(DHCR7):c.440G>A:p.Gly147Asp	coding	Pathogenic/Likely_pathogenic
11	71441415	A	G	A71441415G	DHCR7	NM_001360.2(DHCR7):c.438T>C:p.Asn146=	coding	Benign
11	71442260	T	A	T71442260A	DHCR7	NM_001360.2(DHCR7):c.412+3A>T	noncoding	Pathogenic
11	71442267	A	C	A71442267C	DHCR7	NM_001360.3(DHCR7):c.408T>G:p.Pro136=	coding	Benign
11	71442319	T	A	T71442319A	DHCR7	NM_001360.2(DHCR7):c.356A>T:p.His119Leu	coding	Pathogenic
11	71443774	G	A	G71443774A	DHCR7	NM_001360.2(DHCR7):c.321+219C>T	noncoding	Benign
11	71443959	G	T	G71443959T	DHCR7	NM_001360.2(DHCR7):c.321+34C>A	noncoding	Benign
11	71444018	A	G	A71444018G	DHCR7	NM_001163817.2(DHCR7):c.296T>C:p.Leu99Pro	coding	Pathogenic/Likely_pathogenic
11	71444022	G	A	G71444022A	DHCR7	NM_001360.2(DHCR7):c.292C>T:p.Gln98Ter	coding	Pathogenic/Likely_pathogenic
11	71444036	G	A	G71444036A	DHCR7	NM_001163817.2(DHCR7):c.278C>T:p.Thr93Met	coding	Pathogenic/Likely_pathogenic
11	71444083	G	A	G71444083A	DHCR7	NM_001360.2(DHCR7):c.231C>T:p.Thr77=	coding	Benign
11	71444107	A	G	A71444107G	DHCR7	NM_001360.2(DHCR7):c.207T>C:p.Thr69=	coding	Benign
11	71444125	C	T	C71444125T	DHCR7	NM_001360.2(DHCR7):c.189G>A:p.Gln63=	coding	Benign
11	71444163	G	A	G71444163A	DHCR7	NM_001360.2(DHCR7):c.151C>T:p.Pro51Ser	coding	Pathogenic
11	71444219	C	T	C71444219T	DHCR7;NADSYN1	NM_001360.2(DHCR7):c.99-4G>A	noncoding	Benign/Likely_benign
11	71444595	A	G	A71444595G	DHCR7	NM_001360.2(DHCR7):c.98+260T>C	noncoding	Benign
11	71444928	T	A	T71444928A	DHCR7	NM_001163817.2(DHCR7):c.25A>T:p.Ile9Phe	coding	Benign/Likely_benign
11	71444952	T	C	T71444952C	DHCR7	NM_001360.2(DHCR7):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
11	71444952	T	G	T71444952G	DHCR7	NM_001360.2(DHCR7):c.1A>C:p.Met1Leu	coding	Pathogenic
11	71448383	G	A	G71448383A	DHCR7	NM_001360.2(DHCR7):c.-225C>T	noncoding	Benign
11	71448383	G	C	G71448383C	DHCR7	NM_001360.2(DHCR7):c.-225C>G	noncoding	Benign
11	71455169	T	C	T71455169C	NADSYN1	NM_018161.5(NADSYN1):c.145T>C:p.Cys49Arg	coding	Pathogenic
11	71464130	G	T	G71464130T	NADSYN1	NM_018161.5(NADSYN1):c.395G>T:p.Trp132Leu	coding	Pathogenic
11	71474463	T	A	T71474463A	NADSYN1	NM_018161.5(NADSYN1):c.735T>A:p.Cys245Ter	coding	Pathogenic
11	71480805	G	C	G71480805C	NADSYN1	NM_018161.5(NADSYN1):c.924G>C:p.Ser308=	coding	Benign
11	71482013	G	A	G71482013A	NADSYN1	NM_018161.5(NADSYN1):c.1138G>A:p.Val380Met	coding	Benign
11	71484333	C	T	C71484333T	NADSYN1	NM_018161.5(NADSYN1):c.1341C>T:p.Ile447=	coding	Benign
11	71491856	G	A	G71491856A	NADSYN1	NM_018161.5(NADSYN1):c.1717G>A:p.Ala573Thr	coding	Pathogenic
11	71497491	G	A	G71497491A	NADSYN1	NM_018161.5(NADSYN1):c.1773G>A:p.Met591Ile	coding	Benign
11	71497557	C	G	C71497557G	NADSYN1	NM_018161.5(NADSYN1):c.1839C>G:p.Tyr613Ter	coding	Pathogenic
11	71497578	C	T	C71497578T	NADSYN1	NM_018161.5(NADSYN1):c.1860C>T:p.Leu620=	coding	Benign
11	71497605	G	A	G71497605A	NADSYN1	NM_018161.5(NADSYN1):c.1887G>A:p.Pro629=	coding	Benign
11	71498342	C	T	C71498342T	NADSYN1	NM_018161.5(NADSYN1):c.1894-10C>T	noncoding	Benign
11	71990705	A	G	A71990705G	RNF121	NM_018320.5(RNF121):c.615A>G:p.Ala205=	coding	Benign
11	72001407	G	A	G72001407A	IL18BP	NM_001039660.2(IL18BP):c.362G>A:p.Arg121Gln	coding	Benign
11	72093467	G	A	G72093467A	LRTOMT	NM_001145308.4(LRTOMT):c.-321-29G>A	noncoding	Benign
11	72093666	G	A	G72093666A	LRTOMT	NM_001145308.5(LRTOMT):c.-151G>A	coding	Benign
11	72104998	G	C	G72104998C	LRTOMT	NM_001145308.4(LRTOMT):c.69G>C:p.Leu23=	coding	Benign/Likely_benign
11	72105046	T	A	T72105046A	LRTOMT	NM_001145308.4(LRTOMT):c.83+34T>A	noncoding	Benign
11	72106094	G	A	G72106094A	LRTOMT	NM_001145308.4(LRTOMT):c.242G>A:p.Arg81Gln	coding	Pathogenic
11	72106165	T	C	T72106165C	LRTOMT	NM_001145308.4(LRTOMT):c.313T>C:p.Trp105Arg	coding	Pathogenic
11	72106180	G	A	G72106180A	LRTOMT	NM_001145308.4(LRTOMT):c.328G>A:p.Glu110Lys	coding	Pathogenic
11	72106185	C	G	C72106185G	LRTOMT	NM_001145308.4(LRTOMT):c.333C>G:p.Tyr111Ter	coding	Pathogenic
11	72106211	G	A	G72106211A	LRTOMT	NM_001145308.4(LRTOMT):c.358+1G>A	coding	Pathogenic
11	72108672	G	A	G72108672A	LRTOMT	NM_001145308.4(LRTOMT):c.623G>A:p.Arg208Gln	coding	Benign/Likely_benign
11	72136030	T	C	T72136030C	FOLR3	NM_000804.4(FOLR3):c.78T>C:p.Ser26=	coding	Benign
11	72136105	C	T	C72136105T	FOLR3	NM_000804.4(FOLR3):c.153C>T:p.Asp51=	coding	Benign
11	72139116	G	C	G72139116C	FOLR3	NM_000804.4(FOLR3):c.324G>C:p.Glu108Asp	coding	Benign
11	72139409	G	A	G72139409A	FOLR3	NM_000804.4(FOLR3):c.420G>A:p.Glu140=	coding	Benign
11	72139687	G	A	G72139687A	FOLR3	NM_000804.4(FOLR3):c.594G>A:p.Lys198=	coding	Benign
11	72139741	A	C	A72139741C	FOLR3	NM_000804.4(FOLR3):c.648A>C:p.Ser216=	coding	Benign
11	72192387	G	C	G72192387C	FOLR1	NM_016729.3(FOLR1):c.168+46G>C	noncoding	Benign
11	72195085	C	G	C72195085G	FOLR1	NM_016729.3(FOLR1):c.169-186C>G	noncoding	Benign
11	72195299	G	A	G72195299A	FOLR1	NM_016729.3(FOLR1):c.197G>A:p.Cys66Tyr	coding	Pathogenic
11	72195359	G	A	G72195359A	FOLR1	NM_016729.3(FOLR1):c.257G>A:p.Trp86Ter	coding	Pathogenic
11	72195423	C	T	C72195423T	FOLR1	NM_016729.3(FOLR1):c.321C>T:p.Tyr107=	coding	Benign/Likely_benign
11	72195454	C	T	C72195454T	FOLR1	NM_016729.3(FOLR1):c.352C>T:p.Gln118Ter	coding	Pathogenic
11	72195650	G	A	G72195650A	FOLR1	NM_016729.3(FOLR1):c.396G>A:p.Val132=	coding	Benign/Likely_benign
11	72195743	T	C	T72195743C	FOLR1	NM_016729.3(FOLR1):c.489T>C:p.Thr163=	coding	Benign
11	72195928	C	A	C72195928A	FOLR1	NM_016729.3(FOLR1):c.525C>A:p.Cys175Ter	coding	Pathogenic
11	72220969	G	A	G72220969A	FOLR2	NM_000803.5(FOLR2):c.250G>A:p.Gly84Ser	coding	Benign
11	72220977	G	A	G72220977A	FOLR2	NM_000803.5(FOLR2):c.258G>A:p.Met86Ile	coding	Benign
11	72228479	G	A	G72228479A	INPPL1	NM_001567.4(INPPL1):c.378G>A:p.Pro126=	coding	Benign
11	72228788	C	T	C72228788T	INPPL1	NM_001567.4(INPPL1):c.459C>T:p.Pro153=	coding	Benign
11	72229116	C	A	C72229116A	INPPL1	NM_001567.4(INPPL1):c.545C>A:p.Ser182Ter	coding	Pathogenic
11	72229989	G	C	G72229989C	INPPL1	NM_001567.4(INPPL1):c.909G>C:p.Lys303Asn	coding	Benign
11	72230020	G	A	G72230020A	INPPL1	NM_001567.4(INPPL1):c.939+1G>A	coding	Pathogenic
11	72230210	G	A	G72230210A	INPPL1	NM_001567.4(INPPL1):c.1029G>A:p.Leu343=	coding	Benign
11	72230799	C	T	C72230799T	INPPL1	NM_001567.4(INPPL1):c.1201C>T:p.Arg401Trp	coding	Pathogenic
11	72230876	C	T	C72230876T	INPPL1	NM_001567.4(INPPL1):c.1278C>T:p.Val426=	coding	Benign
11	72231147	G	A	G72231147A	INPPL1	NM_001567.4(INPPL1):c.1455G>A:p.Leu485=	coding	Benign
11	72233098	C	T	C72233098T	INPPL1	NM_001567.4(INPPL1):c.1975C>T:p.Pro659Ser	coding	Pathogenic
11	72233099	C	T	C72233099T	INPPL1	NM_001567.4(INPPL1):c.1976C>T:p.Pro659Leu	coding	Pathogenic
11	72233471	C	T	C72233471T	INPPL1	NM_001567.4(INPPL1):c.2071C>T:p.Arg691Trp	coding	Pathogenic
11	72233696	T	A	T72233696A	INPPL1	NM_001567.4(INPPL1):c.2164T>A:p.Phe722Ile	coding	Pathogenic
11	72234616	G	A	G72234616A	INPPL1	NM_001567.4(INPPL1):c.2415+1G>A	coding	Pathogenic
11	72237538	A	G	A72237538G	INPPL1	NM_001567.4(INPPL1):c.3294A>G:p.Pro1098=	coding	Benign
11	72237758	C	T	C72237758T	INPPL1	NM_001567.4(INPPL1):c.3514C>T:p.Arg1172Cys	coding	Benign
11	72240199	C	T	C72240199T	PHOX2A	NM_005169.4(PHOX2A):c.406-1G>A	coding	Pathogenic
11	72243787	C	T	C72243787T	PHOX2A	NM_005169.4(PHOX2A):c.217+1G>A	noncoding	Pathogenic
11	72243790	G	A	G72243790A	PHOX2A	NM_005169.4(PHOX2A):c.215C>T:p.Ala72Val	coding	Pathogenic
11	72243849	G	A	G72243849A	PHOX2A	NM_005169.4(PHOX2A):c.156C>T:p.Leu52=	coding	Benign
11	72244023	C	T	C72244023T	PHOX2A	NM_005169.4(PHOX2A):c.-19G>A	noncoding	Benign
11	72293375	T	C	T72293375C	CLPB	NM_001258392.3(CLPB):c.2026A>G:p.Thr676Ala	coding	Benign/Likely_benign
11	72293408	G	A	G72293408A	CLPB	NM_001258392.3(CLPB):c.1993C>T:p.Arg665Trp	coding	Benign
11	72293446	A	T	A72293446T	CLPB	NM_001258392.3(CLPB):c.1955T>A:p.Ile652Asn	coding	Pathogenic
11	72293466	G	A	G72293466A	CLPB	NM_001258392.3(CLPB):c.1935C>T:p.Leu645=	coding	Benign
11	72293535	C	T	C72293535T	CLPB	NM_001258392.3(CLPB):c.1866G>A:p.Thr622=	coding	Benign
11	72293541	G	A	G72293541A	CLPB	NM_001258392.3(CLPB):c.1860C>T:p.Arg620=	coding	Benign
11	72293554	C	A	C72293554A	CLPB	NM_001258392.3(CLPB):c.1847G>T:p.Gly616Val	coding	Pathogenic
11	72293576	C	T	C72293576T	CLPB	NM_001258392.3(CLPB):c.1825G>A:p.Glu609Lys	coding	Pathogenic
11	72293670	T	C	T72293670C	CLPB	NM_001258392.3(CLPB):c.1786-55A>G	noncoding	Benign
11	72293791	G	A	G72293791A	CLPB	NM_001258392.3(CLPB):c.1786-176C>T	noncoding	Benign
11	72294047	T	C	T72294047C	CLPB	NM_001258392.3(CLPB):c.1760A>G:p.Tyr587Cys	coding	Pathogenic
11	72294125	G	A	G72294125A	CLPB	NM_001258392.3(CLPB):c.1682C>T:p.Ala561Val	coding	Pathogenic
11	72294645	T	A	T72294645A	CLPB	NM_001258392.3(CLPB):c.1535A>T:p.Glu512Val	coding	Benign
11	72295350	C	T	C72295350T	CLPB	NM_001258392.3(CLPB):c.1486+142G>A	noncoding	Benign
11	72295549	G	A	G72295549A	CLPB	NM_001258392.3(CLPB):c.1429C>T:p.Leu477=	coding	Benign/Likely_benign
11	72295567	C	T	C72295567T	CLPB	NM_001258392.3(CLPB):c.1411G>A:p.Glu471Lys	coding	Pathogenic
11	72295612	A	G	A72295612G	CLPB	NM_001258392.3(CLPB):c.1366T>C:p.Cys456Arg	coding	Pathogenic
11	72295933	G	C	G72295933C	CLPB	NM_001258392.3(CLPB):c.1330-285C>G	noncoding	Benign
11	72301638	A	G	A72301638G	CLPB	NM_001258392.3(CLPB):c.1329+165T>C	noncoding	Benign
11	72301914	A	G	A72301914G	CLPB	NM_001258392.3(CLPB):c.1218T>C:p.Gly406=	coding	Benign/Likely_benign
11	72302299	C	A	C72302299A	CLPB	NM_001258392.3(CLPB):c.1167+5G>T	noncoding	Pathogenic
11	72302312	G	A	G72302312A	CLPB	NM_001258392.3(CLPB):c.1159C>T:p.Arg387Ter	coding	Pathogenic
11	72302339	T	C	T72302339C	CLPB	NM_001258392.3(CLPB):c.1132A>G:p.Arg378Gly	coding	Pathogenic/Likely_pathogenic
11	72307428	C	T	C72307428T	CLPB	NM_001258392.3(CLPB):c.1067-174G>A	noncoding	Benign
11	72308526	C	T	C72308526T	CLPB	NM_001258392.3(CLPB):c.1066+1G>A	noncoding	Pathogenic
11	72308597	C	T	C72308597T	CLPB	NM_001258392.3(CLPB):c.996G>A:p.Arg332=	coding	Benign
11	72317160	G	A	G72317160A	CLPB	NM_001258392.3(CLPB):c.934C>T:p.Arg312Ter	coding	Pathogenic
11	72317566	T	C	T72317566C	CLPB	NM_001258392.3(CLPB):c.874-346A>G	noncoding	Benign
11	72329706	C	T	C72329706T	CLPB	NM_001258392.3(CLPB):c.873+1G>A	noncoding	Pathogenic
11	72329709	T	A	T72329709A	CLPB	NM_001258392.3(CLPB):c.871A>T:p.Lys291Ter	coding	Pathogenic
11	72329740	T	C	T72329740C	CLPB	NM_001258392.3(CLPB):c.840A>G:p.Glu280=	coding	Benign
11	72329751	G	A	G72329751A	CLPB	NM_001258392.3(CLPB):c.829C>T:p.Arg277Ter	coding	Pathogenic
11	72329786	C	G	C72329786G	CLPB	NM_001258392.3(CLPB):c.794G>C:p.Arg265Thr	coding	Benign
11	72329814	G	C	G72329814C	CLPB	NM_001258392.3(CLPB):c.776-10C>G	noncoding	Benign/Likely_benign
11	72330077	G	A	G72330077A	CLPB	NM_001258392.3(CLPB):c.776-273C>T	noncoding	Benign
11	72358940	C	T	C72358940T	CLPB	NM_001258392.3(CLPB):c.715G>A:p.Ala239Thr	coding	Pathogenic
11	72358997	G	A	G72358997A	CLPB	NM_001258392.3(CLPB):c.658C>T:p.Arg220Ter	coding	Pathogenic
11	72372958	C	A	C72372958A	CLPB	NM_001258392.3(CLPB):c.646+7323G>T	coding	Pathogenic
11	72372971	C	T	C72372971T	CLPB	NM_001258392.3(CLPB):c.646+7310G>A	coding	Pathogenic
11	72373000	C	T	C72373000T	CLPB	NM_001258392.3(CLPB):c.646+7281G>A	coding	Benign
11	72373313	A	G	A72373313G	CLPB	NM_001258392.3(CLPB):c.646+6968T>C	noncoding	Benign
11	72380184	T	C	T72380184C	CLPB	NM_001258392.3(CLPB):c.646+97A>G	noncoding	Benign
11	72403187	G	T	G72403187T	CLPB	NM_001258392.3(CLPB):c.456-135C>A	noncoding	Benign
11	72407783	C	A	C72407783A	CLPB	NM_001258392.3(CLPB):c.456-4731G>T	noncoding	Benign
11	72407803	C	G	C72407803G	CLPB	NM_001258392.3(CLPB):c.456-4751G>C	noncoding	Benign
11	72407849	G	A	G72407849A	CLPB	NM_001258392.3(CLPB):c.456-4797C>T	noncoding	Benign
11	72434126	C	A	C72434126A	CLPB	NM_001258392.3(CLPB):c.349G>T:p.Ala117Ser	coding	Benign
11	72434282	C	A	C72434282A	CLPB	NM_001258392.3(CLPB):c.193G>T:p.Gly65Ter	coding	Pathogenic
11	72434340	C	A	C72434340A	CLPB	NM_001258392.3(CLPB):c.135G>T:p.Pro45=	coding	Benign/Likely_benign
11	72434424	G	T	G72434424T	CLPB	NM_001258392.3(CLPB):c.51C>A:p.Leu17=	coding	Benign
11	72586072	G	A	G72586072A	PDE2A	NM_002599.5(PDE2A):c.1180C>T:p.Gln394Ter	coding	Pathogenic
11	72590472	C	A	C72590472A	PDE2A	NM_002599.5(PDE2A):c.658G>T:p.Gly220Trp	coding	Benign
11	72686155	C	T	C72686155T	ARAP1	NM_015242.4(ARAP1):c.3487G>A:p.Val1163Met	coding	Benign
11	72697032	A	C	A72697032C	ARAP1	NM_015242.4(ARAP1):c.2382T>G:p.Pro794=	coding	Benign
11	72701793	C	T	C72701793T	ARAP1	NM_015242.4(ARAP1):c.1433-10G>A	noncoding	Benign
11	72712201	C	T	C72712201T	ARAP1	NM_015242.4(ARAP1):c.282G>A:p.Pro94=	coding	Benign
11	72712555	G	A	G72712555A	ARAP1	NM_015242.4(ARAP1):c.26C>T:p.Pro9Leu	coding	Benign
11	72754972	C	T	C72754972T	STARD10	NM_006645.2(STARD10):c.801G>A:p.Ala267=	coding	Benign
11	72824802	G	C	G72824802C	ATG16L2	NM_033388.2(ATG16L2):c.956G>C:p.Cys319Ser	coding	Benign
11	72841540	G	A	G72841540A	FCHSD2	NM_014824.3(FCHSD2):c.1970C>T:p.Pro657Leu	coding	Benign
11	72868021	A	G	A72868021G	FCHSD2	NM_014824.3(FCHSD2):c.1152T>C:p.Ile384=	coding	Benign
11	73000992	T	G	T73000992G	FCHSD2	NM_014824.3(FCHSD2):c.385A>C:p.Arg129=	coding	Benign
11	73234210	T	C	T73234210C	P2RY2	NM_002564.4(P2RY2):c.51T>C:p.Asp17=	coding	Benign
11	73272314	G	A	G73272314A	P2RY6	NM_001277208.1(P2RY6):c.117G>A:p.Ser39=	coding	Benign
11	73297304	C	T	C73297304T	P2RY6	NM_001277208.1(P2RY6):c.1089C>T:p.Tyr363=	coding	Benign
11	73297344	T	C	T73297344C	P2RY6	NM_001277208.1(P2RY6):c.1129T>C:p.Leu377=	coding	Benign
11	73309354	C	A	C73309354A	ARHGEF17	NM_014786.4(ARHGEF17):c.716C>A:p.Ser239Tyr	coding	Benign
11	73362481	C	T	C73362481T	ARHGEF17	NM_014786.4(ARHGEF17):c.4743C>T:p.Pro1581=	coding	Benign
11	73362517	C	T	C73362517T	ARHGEF17	NM_014786.4(ARHGEF17):c.4779C>T:p.Asp1593=	coding	Benign
11	73390753	A	G	A73390753G	RELT	NM_152222.2(RELT):c.121-2A>G	noncoding	Pathogenic
11	73390798	C	T	C73390798T	RELT	NM_152222.2(RELT):c.164C>T:p.Thr55Ile	coding	Pathogenic
11	73394489	G	A	G73394489A	RELT	NM_152222.2(RELT):c.801G>A:p.Ala267=	coding	Benign
11	73395462	C	T	C73395462T	RELT	NM_152222.2(RELT):c.1264C>T:p.Arg422Trp	coding	Pathogenic
11	73395463	G	C	G73395463C	RELT	NM_152222.2(RELT):c.1265G>C:p.Arg422Pro	coding	Pathogenic
11	73677911	C	G	C73677911G	RAB6A	NM_198896.2(RAB6A):c.614G>C:p.Gly205Ala	coding	Benign
11	73718840	G	T	G73718840T	RAB6A	NM_198896.2(RAB6A):c.184-122C>A	coding	Benign
11	73951138	G	C	G73951138C	DNAJB13	NM_153614.3(DNAJB13):c.68+1G>C	coding	Pathogenic
11	73958335	T	C	T73958335C	DNAJB13	NM_153614.3(DNAJB13):c.87T>C:p.Leu29=	coding	Benign
11	73966130	T	C	T73966130C	DNAJB13	NM_153614.3(DNAJB13):c.493-8T>C	noncoding	Benign
11	73969996	T	G	T73969996G	DNAJB13	NM_153614.3(DNAJB13):c.833T>G:p.Met278Arg	coding	Pathogenic
11	73975556	G	A	G73975556A	UCP2	NM_003355.2(UCP2):c.750C>T:p.Tyr250=	coding	Benign
11	73976693	C	T	C73976693T	UCP2	NM_003355.2(UCP2):c.582G>A:p.Leu194=	coding	Benign
11	73977996	C	T	C73977996T	UCP2	NM_003355.2(UCP2):c.227G>A:p.Arg76Gln	coding	Benign/Likely_benign
11	73978059	G	A	G73978059A	UCP2	NM_003355.2(UCP2):c.164C>T:p.Ala55Val	coding	Benign
11	73978264	C	T	C73978264T	UCP2	NM_003355.2(UCP2):c.115G>A:p.Val39Ile	coding	Benign/Likely_benign
11	74003826	C	T	C74003826T	UCP3	NM_003356.4(UCP3):c.824+1G>A	coding	Benign
11	74004476	G	A	G74004476A	UCP3	NM_003356.4(UCP3):c.643+8C>T	noncoding	Benign
11	74006218	G	A	G74006218A	UCP3	NM_003356.4(UCP3):c.288C>T:p.Ile96=	coding	Benign
11	74006298	G	A	G74006298A	UCP3	NM_003356.4(UCP3):c.208C>T:p.Arg70Trp	coding	Pathogenic
11	74006386	G	A	G74006386A	UCP3	NM_003356.4(UCP3):c.127-7C>T	noncoding	Benign
11	74006971	G	A	G74006971A	UCP3	NM_003356.4(UCP3):c.72C>T:p.Ala24=	coding	Benign
11	74007018	C	T	C74007018T	UCP3	NM_003356.4(UCP3):c.25G>A:p.Val9Met	coding	Benign
11	74048297	C	T	C74048297T	C2CD3	NM_015531.6(C2CD3):c.5403G>A:p.Thr1801=	coding	Benign
11	74049514	C	T	C74049514T	C2CD3	NM_015531.6(C2CD3):c.5184G>A:p.Ser1728=	coding	Benign
11	74057401	C	G	C74057401G	C2CD3	NM_015531.6(C2CD3):c.5090+5G>C	noncoding	Pathogenic
11	74057443	T	C	T74057443C	C2CD3	NM_015531.6(C2CD3):c.5053A>G:p.Thr1685Ala	coding	Benign
11	74074252	C	A	C74074252A	C2CD3	NM_001286577.1(C2CD3):c.4951+1G>T	noncoding	Pathogenic
11	74074519	G	C	G74074519C	C2CD3	NM_015531.6(C2CD3):c.4685C>G:p.Ser1562Cys	coding	Benign
11	74078681	T	G	T74078681G	C2CD3	NM_015531.6(C2CD3):c.4037A>C:p.Asp1346Ala	coding	Benign
11	74084972	T	A	T74084972A	C2CD3	NM_015531.6(C2CD3):c.3911-2A>T	noncoding	Pathogenic
11	74085617	C	T	C74085617T	C2CD3	NM_015531.6(C2CD3):c.3910+1G>A	noncoding	Pathogenic
11	74085715	C	T	C74085715T	C2CD3	NM_015531.6(C2CD3):c.3813G>A:p.Leu1271=	coding	Benign
11	74085782	C	T	C74085782T	C2CD3	NM_015531.6(C2CD3):c.3746G>A:p.Arg1249Gln	coding	Benign
11	74085833	T	C	T74085833C	C2CD3	NM_015531.6(C2CD3):c.3695A>G:p.Asn1232Ser	coding	Benign/Likely_benign
11	74085890	T	C	T74085890C	C2CD3	NM_015531.6(C2CD3):c.3642-4A>G	noncoding	Benign
11	74093908	T	C	T74093908C	C2CD3	NM_015531.6(C2CD3):c.3252A>G:p.Pro1084=	coding	Benign
11	74095240	A	G	A74095240G	C2CD3	NM_015531.6(C2CD3):c.3148T>C:p.Phe1050Leu	coding	Benign
11	74095303	A	C	A74095303C	C2CD3	NM_015531.6(C2CD3):c.3085T>G:p.Cys1029Gly	coding	Pathogenic
11	74100598	C	T	C74100598T	C2CD3	NM_015531.6(C2CD3):c.2659G>A:p.Val887Met	coding	Benign/Likely_benign
11	74103359	C	T	C74103359T	C2CD3	NM_015531.6(C2CD3):c.2352G>A:p.Thr784=	coding	Benign
11	74103560	G	A	G74103560A	C2CD3	NM_015531.6(C2CD3):c.2151C>T:p.Asn717=	coding	Benign
11	74122987	C	T	C74122987T	C2CD3	NM_015531.6(C2CD3):c.1365+1G>A	noncoding	Pathogenic
11	74123102	C	A	C74123102A	C2CD3	NM_015531.6(C2CD3):c.1251G>T:p.Gly417=	coding	Benign
11	74132892	C	T	C74132892T	C2CD3	NM_015531.6(C2CD3):c.1169G>A:p.Arg390Lys	coding	Benign
11	74132948	C	T	C74132948T	C2CD3	NM_015531.6(C2CD3):c.1113G>A:p.Arg371=	coding	Benign
11	74139595	T	A	T74139595A	C2CD3	NM_015531.6(C2CD3):c.707+10A>T	noncoding	Benign
11	74139608	G	A	G74139608A	C2CD3	NM_015531.6(C2CD3):c.704C>T:p.Pro235Leu	coding	Benign/Likely_benign
11	74139628	G	A	G74139628A	C2CD3	NM_015531.6(C2CD3):c.684C>T:p.Asn228=	coding	Benign
11	74139674	C	T	C74139674T	C2CD3	NM_015531.6(C2CD3):c.638G>A:p.Arg213His	coding	Benign
11	74168485	G	A	G74168485A	C2CD3	NM_001286577.1(C2CD3):c.184C>T:p.Arg62Ter	coding	Pathogenic
11	74168538	G	T	G74168538T	C2CD3	NM_015531.6(C2CD3):c.131C>A:p.Thr44Asn	coding	Benign
11	74168543	T	C	T74168543C	C2CD3	NM_015531.6(C2CD3):c.126A>G:p.Lys42=	coding	Benign
11	74168607	C	T	C74168607T	C2CD3	NM_015531.6(C2CD3):c.62G>A:p.Ser21Asn	coding	Benign
11	74457235	G	A	G74457235A	KCNE3	NM_005472.4(KCNE3):c.*17C>T	noncoding	Benign
11	74457336	G	A	G74457336A	KCNE3	NM_005472.4(KCNE3):c.228C>T:p.Ile76=	coding	Benign
11	74457366	A	G	A74457366G	KCNE3	NM_005472.4(KCNE3):c.198T>C:p.Phe66=	coding	Benign
11	74467380	G	A	G74467380A	KCNE3	NM_005472.4(KCNE3):c.-190+18C>T	noncoding	Benign
11	74467384	G	C	G74467384C	KCNE3	NM_005472.4(KCNE3):c.-190+14C>G	noncoding	Benign
11	74492141	G	A	G74492141A	LIPT2	NM_001144869.3(LIPT2):c.690C>T:p.Pro230=	coding	Benign
11	74493327	A	C	A74493327C	LIPT2	NM_001144869.3(LIPT2):c.377T>G:p.Leu126Arg	coding	Pathogenic/Likely_pathogenic
11	74493390	A	C	A74493390C	LIPT2	NM_001144869.3(LIPT2):c.314T>G:p.Leu105Arg	coding	Pathogenic/Likely_pathogenic
11	74493434	G	T	G74493434T	LIPT2	NM_001144869.3(LIPT2):c.270C>A:p.Thr90=	coding	Benign
11	74618593	C	T	C74618593T	POLD3	NM_006591.3(POLD3):c.449C>T:p.Ser150Leu	coding	Benign
11	74629249	C	T	C74629249T	POLD3	NM_006591.3(POLD3):c.932C>T:p.Thr311Ile	coding	Benign
11	75163968	C	T	C75163968T	SLCO2B1	NM_007256.5(SLCO2B1):c.153C>T:p.Phe51=	coding	Benign
11	75165906	G	A	G75165906A	SLCO2B1	NM_007256.5(SLCO2B1):c.405G>A:p.Pro135=	coding	Benign
11	75193429	C	T	C75193429T	SLCO2B1	NM_007256.5(SLCO2B1):c.1287C>T:p.Gly429=	coding	Benign
11	75204541	G	A	G75204541A	SLCO2B1	NM_007256.5(SLCO2B1):c.2091G>A:p.Val697=	coding	Benign
11	75401637	C	T	C75401637T	RPS3	NM_001005.5(RPS3):c.162-3C>T	noncoding	Benign
11	75462842	C	T	C75462842T	GDPD5	NM_030792.8(GDPD5):c.165G>A:p.Thr55=	coding	Benign
11	75562165	G	A	G75562165A	SERPINH1	NM_001235.3(SERPINH1):c.-189G>A	noncoding	Benign
11	75562281	G	A	G75562281A	SERPINH1	NM_001235.4(SERPINH1):c.-73G>A	noncoding	Benign
11	75566331	C	T	C75566331T	SERPINH1	NM_001235.4(SERPINH1):c.-19C>T	noncoding	Benign
11	75566582	T	C	T75566582C	SERPINH1	NM_001235.4(SERPINH1):c.233T>C:p.Leu78Pro	coding	Pathogenic
11	75566583	A	G	A75566583G	SERPINH1	NM_001235.4(SERPINH1):c.234A>G:p.Leu78=	coding	Benign
11	75566616	G	A	G75566616A	SERPINH1	NM_001235.4(SERPINH1):c.267G>A:p.Thr89=	coding	Benign/Likely_benign
11	75566712	C	G	C75566712G	SERPINH1	NM_001235.4(SERPINH1):c.363C>G:p.Ser121=	coding	Benign
11	75566947	C	T	C75566947T	SERPINH1	NM_001235.4(SERPINH1):c.598C>T:p.Leu200=	coding	Benign
11	75568494	C	T	C75568494T	SERPINH1	NM_001235.4(SERPINH1):c.623-237C>T	noncoding	Benign
11	75568801	C	T	C75568801T	SERPINH1	NM_001235.4(SERPINH1):c.693C>T:p.Thr231=	coding	Benign
11	75568818	T	C	T75568818C	SERPINH1	NM_001235.4(SERPINH1):c.710T>C:p.Met237Thr	coding	Pathogenic
11	75568838	T	C	T75568838C	SERPINH1	NM_001235.4(SERPINH1):c.721+9T>C	noncoding	Benign/Likely_benign
11	75569433	T	A	T75569433A	SERPINH1	NM_001235.4(SERPINH1):c.954+262T>A	noncoding	Benign
11	75571775	C	A	C75571775A	SERPINH1	NM_001235.4(SERPINH1):c.955-6C>A	noncoding	Benign
11	75571837	G	A	G75571837A	SERPINH1	NM_001235.4(SERPINH1):c.1011G>A:p.Leu337=	coding	Benign
11	75572208	A	G	A75572208G	SERPINH1	NM_001235.4(SERPINH1):c.*125A>G	noncoding	Benign
11	75572573	G	A	G75572573A	SERPINH1	NM_001235.4(SERPINH1):c.*490G>A	noncoding	Benign
11	75572608	C	A	C75572608A	SERPINH1	NM_001235.4(SERPINH1):c.*525C>A	noncoding	Benign
11	75572663	T	G	T75572663G	SERPINH1	NM_001235.4(SERPINH1):c.*580T>G	noncoding	Benign
11	75587161	C	T	C75587161T	MAP6	NM_033063.1(MAP6):c.2340G>A:p.Lys780=	coding	Benign
11	75605876	C	T	C75605876T	MAP6	NM_033063.1(MAP6):c.1248G>A:p.Pro416=	coding	Benign
11	75720004	C	T	C75720004T	MOGAT2	NM_025098.4(MOGAT2):c.104C>T:p.Thr35Ile	coding	Benign
11	75728122	G	A	G75728122A	MOGAT2	NM_025098.4(MOGAT2):c.628G>A:p.Val210Ile	coding	Benign
11	75790710	T	C	T75790710C	DGAT2	NM_032564.5(DGAT2):c.408T>C:p.Phe136=	coding	Benign
11	75797213	T	C	T75797213C	DGAT2	NM_032564.5(DGAT2):c.690T>C:p.Ser230=	coding	Benign
11	75912042	A	G	A75912042G	UVRAG	NM_003369.4(UVRAG):c.593+3A>G	noncoding	Benign
11	76140912	C	T	C76140912T	UVRAG	NM_003369.4(UVRAG):c.1599C>T:p.Thr533=	coding	Benign
11	76191641	C	A	C76191641A	WNT11	NM_004626.3(WNT11):c.813G>T:p.Ser271=	coding	Benign
11	76191641	C	T	C76191641T	WNT11	NM_004626.3(WNT11):c.813G>A:p.Ser271=	coding	Benign
11	76191821	G	A	G76191821A	WNT11	NM_004626.3(WNT11):c.633C>T:p.Cys211=	coding	Benign
11	76194803	C	T	C76194803T	WNT11	NM_004626.3(WNT11):c.361G>A:p.Ala121Thr	coding	Benign
11	76196586	G	A	G76196586A	WNT11	NM_004626.3(WNT11):c.216C>T:p.Ala72=	coding	Benign
11	76451851	C	T	C76451851T	EMSY	NM_020193.4(EMSY):c.71-7C>T	noncoding	Benign
11	76451964	T	C	T76451964C	EMSY	NM_020193.4(EMSY):c.170+7T>C	noncoding	Benign
11	76463865	C	A	C76463865A	EMSY	NM_020193.4(EMSY):c.616C>A:p.Arg206=	coding	Benign
11	76523148	T	C	T76523148C	EMSY	NM_020193.4(EMSY):c.1685-7T>C	noncoding	Benign
11	76544410	T	G	T76544410G	EMSY	NM_020193.4(EMSY):c.2861T>G:p.Leu954Arg	coding	Benign
11	76544468	G	A	G76544468A	EMSY	NM_020193.4(EMSY):c.2919G>A:p.Gln973=	coding	Benign
11	76659963	G	A	G76659963A	LRRC32	NM_001128922.2(LRRC32):c.1630C>T:p.Arg544Ter	coding	Pathogenic/Likely_pathogenic
11	76660273	G	A	G76660273A	LRRC32	NM_001128922.2(LRRC32):c.1320C>T:p.Ser440=	coding	Benign
11	76661219	C	T	C76661219T	LRRC32	NM_001128922.2(LRRC32):c.374G>A:p.Arg125His	coding	Benign
11	76861074	A	G	A76861074G	ACER3	NM_018367.7(ACER3):c.98A>G:p.Glu33Gly	coding	Pathogenic
11	77016682	C	T	C77016682T	ACER3	NM_018367.7(ACER3):c.607C>T:p.Arg203Ter	coding	Pathogenic
11	77084916	C	G	C77084916G	CAPN5	NM_004055.5(CAPN5):c.30C>G:p.Asp10Glu	coding	Benign
11	77084976	C	A	C77084976A	CAPN5	NM_004055.5(CAPN5):c.90C>A:p.Pro30=	coding	Benign
11	77112690	C	T	C77112690T	CAPN5	NM_004055.5(CAPN5):c.399C>T:p.Asp133=	coding	Benign
11	77114410	C	A	C77114410A	CAPN5	NM_004055.5(CAPN5):c.675C>A:p.Gly225=	coding	Benign
11	77115423	G	T	G77115423T	CAPN5	NM_004055.5(CAPN5):c.728G>T:p.Arg243Leu	coding	Pathogenic
11	77115426	T	C	T77115426C	CAPN5	NM_004055.5(CAPN5):c.731T>C:p.Leu244Pro	coding	Pathogenic
11	77115433	C	T	C77115433T	CAPN5	NM_004055.5(CAPN5):c.738C>T:p.Cys246=	coding	Benign
11	77115445	G	C	G77115445C	CAPN5	NM_004055.5(CAPN5):c.750G>C:p.Lys250Asn	coding	Pathogenic
11	77115499	A	G	A77115499G	CAPN5	NM_004055.5(CAPN5):c.804A>G:p.Leu268=	coding	Benign
11	77115560	C	T	C77115560T	CAPN5	NM_004055.5(CAPN5):c.865C>T:p.Arg289Trp	coding	Pathogenic
11	77116223	C	T	C77116223T	CAPN5	NM_004055.5(CAPN5):c.894-3C>T	noncoding	Benign
11	77116314	A	G	A77116314G	CAPN5	NM_004055.5(CAPN5):c.971+11A>G	noncoding	Benign
11	77118355	G	T	G77118355T	CAPN5	NM_004055.5(CAPN5):c.1167+3G>T	noncoding	Benign
11	77122625	G	A	G77122625A	CAPN5	NM_004055.5(CAPN5):c.1653G>A:p.Ser551=	coding	Benign
11	77122665	A	C	A77122665C	CAPN5	NM_004055.5(CAPN5):c.1693A>C:p.Lys565Gln	coding	Benign
11	77130647	C	T	C77130647T	MYO7A	NM_000260.4(MYO7A):c.13C>T:p.Gln5Ter	coding	Pathogenic
11	77142707	A	G	A77142707G	MYO7A	NM_000260.4(MYO7A):c.19-2A>G	noncoding	Pathogenic
11	77142737	T	A	T77142737A	MYO7A	NM_000260.4(MYO7A):c.47T>A:p.Leu16Ter	coding	Pathogenic/Likely_pathogenic
11	77142737	T	C	T77142737C	MYO7A	NM_000260.4(MYO7A):c.47T>C:p.Leu16Ser	coding	Benign
11	77142742	C	T	C77142742T	MYO7A	NM_000260.4(MYO7A):c.52C>T:p.Gln18Ter	coding	Pathogenic
11	77142763	G	A	G77142763A	MYO7A	NM_000260.4(MYO7A):c.73G>A:p.Gly25Arg	coding	Pathogenic/Likely_pathogenic
11	77142767	C	A	C77142767A	MYO7A	NM_000260.4(MYO7A):c.77C>A:p.Ala26Glu	coding	Pathogenic
11	77142783	C	A	C77142783A	MYO7A	NM_000260.4(MYO7A):c.93C>A:p.Cys31Ter	coding	Pathogenic
11	77142783	C	T	C77142783T	MYO7A	NM_000260.4(MYO7A):c.93C>T:p.Cys31=	coding	Benign/Likely_benign
11	77147796	A	G	A77147796G	MYO7A	NM_000260.4(MYO7A):c.133-2A>G	noncoding	Pathogenic
11	77147798	G	T	G77147798T	MYO7A	NM_000260.4(MYO7A):c.133G>T:p.Glu45Ter	coding	Pathogenic
11	77147806	G	A	G77147806A	MYO7A	NM_000260.4(MYO7A):c.141G>A:p.Trp47Ter	coding	Pathogenic
11	77147950	C	A	C77147950A	MYO7A	NM_000260.4(MYO7A):c.285C>A:p.Tyr95Ter	coding	Pathogenic
11	77147951	G	C	G77147951C	MYO7A	NM_000260.4(MYO7A):c.285+1G>C	coding	Pathogenic/Likely_pathogenic
11	77147952	T	C	T77147952C	MYO7A	NM_000260.4(MYO7A):c.285+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	77147952	T	G	T77147952G	MYO7A	NM_000260.4(MYO7A):c.285+2T>G	noncoding	Pathogenic/Likely_pathogenic
11	77155902	C	T	C77155902T	MYO7A	NM_000260.4(MYO7A):c.286-5C>T	noncoding	Benign/Likely_benign
11	77155909	G	A	G77155909A	MYO7A	NM_000260.4(MYO7A):c.288G>A:p.Thr96=	coding	Benign/Likely_benign
11	77155945	C	T	C77155945T	MYO7A	NM_000260.4(MYO7A):c.324C>T:p.Tyr108=	coding	Benign
11	77156006	G	T	G77156006T	MYO7A	NM_000260.4(MYO7A):c.385G>T:p.Glu129Ter	coding	Pathogenic
11	77156069	C	T	C77156069T	MYO7A	NM_000260.4(MYO7A):c.448C>T:p.Arg150Ter	coding	Pathogenic
11	77156083	C	A	C77156083A	MYO7A	NM_000260.4(MYO7A):c.462C>A:p.Cys154Ter	coding	Pathogenic
11	77156089	C	T	C77156089T	MYO7A	NM_000260.4(MYO7A):c.468C>T:p.Ile156=	coding	Benign
11	77156092	G	A	G77156092A	MYO7A	NM_000260.4(MYO7A):c.470+1G>A	coding	Pathogenic
11	77156187	C	T	C77156187T	MYO7A	NM_000260.4(MYO7A):c.470+96C>T	noncoding	Benign
11	77156683	C	T	C77156683T	MYO7A	NM_000260.4(MYO7A):c.494C>T:p.Thr165Met	coding	Pathogenic
11	77156857	C	T	C77156857T	MYO7A	NM_000260.4(MYO7A):c.593-5C>T	noncoding	Benign
11	77156889	A	G	A77156889G	MYO7A	NM_000260.4(MYO7A):c.620A>G:p.Asn207Ser	coding	Pathogenic
11	77156903	C	T	C77156903T	MYO7A	NM_000260.4(MYO7A):c.634C>T:p.Arg212Cys	coding	Pathogenic
11	77156904	G	A	G77156904A	MYO7A	NM_000260.4(MYO7A):c.635G>A:p.Arg212His	coding	Pathogenic/Likely_pathogenic
11	77156908	C	T	C77156908T	MYO7A	NM_000260.4(MYO7A):c.639C>T:p.Phe213=	coding	Benign
11	77156909	G	A	G77156909A	MYO7A	NM_000260.4(MYO7A):c.640G>A:p.Gly214Arg	coding	Pathogenic/Likely_pathogenic
11	77156958	C	T	C77156958T	MYO7A	NM_000260.4(MYO7A):c.689C>T:p.Ala230Val	coding	Pathogenic/Likely_pathogenic
11	77156969	C	T	C77156969T	MYO7A	NM_000260.4(MYO7A):c.700C>T:p.Gln234Ter	coding	Pathogenic
11	77156991	G	A	G77156991A	MYO7A	NM_000260.4(MYO7A):c.722G>A:p.Arg241His	coding	Pathogenic
11	77157000	G	C	G77157000C	MYO7A	NM_000260.4(MYO7A):c.731G>C:p.Arg244Pro	coding	Pathogenic
11	77157232	C	A	C77157232A	MYO7A	NM_000260.4(MYO7A):c.736-47C>A	noncoding	Benign
11	77157326	T	C	T77157326C	MYO7A	NM_000260.4(MYO7A):c.783T>C:p.Gly261=	coding	Benign
11	77158426	T	A	T77158426A	MYO7A	NM_000260.4(MYO7A):c.999T>A:p.Tyr333Ter	coding	Pathogenic
11	77158426	T	G	T77158426G	MYO7A	NM_000260.4(MYO7A):c.999T>G:p.Tyr333Ter	coding	Pathogenic
11	77158728	C	G	C77158728G	MYO7A	NM_000260.4(MYO7A):c.1003+298C>G	noncoding	Benign
11	77159412	C	G	C77159412G	MYO7A	NM_000260.4(MYO7A):c.1004-35C>G	noncoding	Benign
11	77159415	T	C	T77159415C	MYO7A	NM_000260.4(MYO7A):c.1004-32T>C	noncoding	Benign
11	77159588	T	C	T77159588C	MYO7A	NM_000260.4(MYO7A):c.1080+65T>C	noncoding	Benign
11	77160266	G	A	G77160266A	MYO7A	NM_000260.4(MYO7A):c.1184G>A:p.Arg395His	coding	Pathogenic
11	77160272	C	A	C77160272A	MYO7A	NM_000260.4(MYO7A):c.1190C>A:p.Ala397Asp	coding	Pathogenic/Likely_pathogenic
11	77160283	G	A	G77160283A	MYO7A	NM_000260.4(MYO7A):c.1200+1G>A	coding	Pathogenic/Likely_pathogenic
11	77161030	A	T	A77161030T	MYO7A	NM_000260.4(MYO7A):c.1258A>T:p.Lys420Ter	coding	Pathogenic
11	77161123	G	A	G77161123A	MYO7A	NM_000260.4(MYO7A):c.1343+8G>A	noncoding	Benign
11	77161368	C	G	C77161368G	MYO7A	NM_000260.4(MYO7A):c.1343+253C>G	noncoding	Benign
11	77162118	A	G	A77162118G	MYO7A	NM_000260.4(MYO7A):c.1344-2A>G	noncoding	Pathogenic
11	77162149	A	T	A77162149T	MYO7A	NM_000260.4(MYO7A):c.1373A>T:p.Asn458Ile	coding	Pathogenic
11	77162202	G	T	G77162202T	MYO7A	NM_000260.4(MYO7A):c.1426G>T:p.Glu476Ter	coding	Pathogenic
11	77162574	T	C	T77162574C	MYO7A	NM_000260.4(MYO7A):c.1554+244T>C	noncoding	Benign
11	77162845	C	G	C77162845G	MYO7A	NM_000260.4(MYO7A):c.1555-8C>G	noncoding	Pathogenic/Likely_pathogenic
11	77162854	G	A	G77162854A	MYO7A	NM_000260.4(MYO7A):c.1556G>A:p.Gly519Asp	coding	Pathogenic/Likely_pathogenic
11	77162872	T	G	T77162872G	MYO7A	NM_000260.4(MYO7A):c.1574T>G:p.Leu525Ter	coding	Pathogenic
11	77163250	A	G	A77163250G	MYO7A	NM_000260.4(MYO7A):c.1690+262A>G	noncoding	Benign
11	77166073	C	T	C77166073T	MYO7A	NM_000260.4(MYO7A):c.1708C>T:p.Arg570Ter	coding	Pathogenic
11	77166136	C	T	C77166136T	MYO7A	NM_000260.4(MYO7A):c.1771C>T:p.Gln591Ter	coding	Pathogenic
11	77166162	G	A	G77166162A	MYO7A	NM_000260.4(MYO7A):c.1797G>A:p.Met599Ile	coding	Pathogenic
11	77166445	T	C	T77166445C	MYO7A	NM_000260.4(MYO7A):c.1797+283T>C	noncoding	Benign
11	77172733	C	T	C77172733T	MYO7A	NM_000260.4(MYO7A):c.1798-15C>T	noncoding	Benign
11	77172770	C	A	C77172770A	MYO7A	NM_000260.4(MYO7A):c.1820C>A:p.Ser607Ter	coding	Pathogenic/Likely_pathogenic
11	77172803	T	G	T77172803G	MYO7A	NM_000260.4(MYO7A):c.1853T>G:p.Leu618Arg	coding	Pathogenic
11	77172834	C	A	C77172834A	MYO7A	NM_000260.4(MYO7A):c.1884C>A:p.Cys628Ter	coding	Pathogenic
11	77172850	C	T	C77172850T	MYO7A	NM_000260.4(MYO7A):c.1900C>T:p.Arg634Ter	coding	Pathogenic
11	77173076	A	T	A77173076T	MYO7A	NM_000260.4(MYO7A):c.1935+191A>T	noncoding	Benign
11	77174733	G	A	G77174733A	MYO7A	NM_000260.4(MYO7A):c.1936-23G>A	noncoding	Benign
11	77174772	T	C	T77174772C	MYO7A	NM_000260.4(MYO7A):c.1952T>C:p.Leu651Pro	coding	Pathogenic
11	77174783	C	T	C77174783T	MYO7A	NM_000260.4(MYO7A):c.1963C>T:p.Gln655Ter	coding	Pathogenic
11	77174789	C	T	C77174789T	MYO7A	NM_000260.4(MYO7A):c.1969C>T:p.Arg657Trp	coding	Pathogenic/Likely_pathogenic
11	77174796	C	A	C77174796A	MYO7A	NM_000260.4(MYO7A):c.1976C>A:p.Ser659Ter	coding	Pathogenic
11	77174816	C	T	C77174816T	MYO7A	NM_000260.4(MYO7A):c.1996C>T:p.Arg666Ter	coding	Pathogenic
11	77174817	G	C	G77174817C	MYO7A	NM_000260.4(MYO7A):c.1997G>C:p.Arg666Pro	coding	Pathogenic
11	77174823	G	A	G77174823A	MYO7A	NM_000260.4(MYO7A):c.2003G>A:p.Arg668His	coding	Pathogenic
11	77174825	C	T	C77174825T	MYO7A	NM_000260.4(MYO7A):c.2005C>T:p.Arg669Ter	coding	Pathogenic/Likely_pathogenic
11	77174855	G	A	G77174855A	MYO7A	NM_000260.4(MYO7A):c.2035G>A:p.Val679Ile	coding	Benign/Likely_benign
11	77174915	G	A	G77174915A	MYO7A	NM_000260.4(MYO7A):c.2094+1G>A	coding	Pathogenic
11	77175392	C	A	C77175392A	MYO7A	NM_000260.4(MYO7A):c.2115C>A:p.Cys705Ter	coding	Pathogenic
11	77175393	C	T	C77175393T	MYO7A	NM_000260.4(MYO7A):c.2116C>T:p.Gln706Ter	coding	Pathogenic
11	77175465	G	T	G77175465T	MYO7A	NM_000260.4(MYO7A):c.2187+1G>T	coding	Pathogenic
11	77175672	G	A	G77175672A	MYO7A	NM_000260.4(MYO7A):c.2187+208G>A	noncoding	Benign
11	77177597	G	A	G77177597A	MYO7A	NM_000260.4(MYO7A):c.2236G>A:p.Asp746Asn	coding	Benign/Likely_benign
11	77179044	G	T	G77179044T	MYO7A	NM_000260.4(MYO7A):c.2283-1G>T	noncoding	Pathogenic
11	77179073	G	T	G77179073T	MYO7A	NM_000260.4(MYO7A):c.2311G>T:p.Ala771Ser	coding	Pathogenic
11	77179085	C	T	C77179085T	MYO7A	NM_000260.4(MYO7A):c.2323C>T:p.Gln775Ter	coding	Pathogenic/Likely_pathogenic
11	77179196	T	C	T77179196C	MYO7A	NM_000260.4(MYO7A):c.2367+67T>C	noncoding	Benign
11	77179354	T	C	T77179354C	MYO7A	NM_000260.4(MYO7A):c.2367+225T>C	noncoding	Benign
11	77179398	A	G	A77179398G	MYO7A	NM_000260.4(MYO7A):c.2367+269A>G	noncoding	Benign
11	77179828	C	T	C77179828T	MYO7A	NM_000260.4(MYO7A):c.2461C>T:p.Gln821Ter	coding	Pathogenic
11	77180360	C	T	C77180360T	MYO7A	NM_000260.4(MYO7A):c.2587-14C>T	noncoding	Benign
11	77180539	G	A	G77180539A	MYO7A	NM_000260.4(MYO7A):c.2694+58G>A	noncoding	Benign
11	77180615	A	G	A77180615G	MYO7A	NM_000260.4(MYO7A):c.2694+134A>G	noncoding	Benign
11	77181322	C	G	C77181322G	MYO7A	NM_000260.4(MYO7A):c.2695-58C>G	noncoding	Benign
11	77181392	C	T	C77181392T	MYO7A	NM_000260.4(MYO7A):c.2707C>T:p.Gln903Ter	coding	Pathogenic
11	77181439	C	T	C77181439T	MYO7A	NM_000260.4(MYO7A):c.2754C>T:p.Ala918=	coding	Benign/Likely_benign
11	77181589	G	T	G77181589T	MYO7A	NM_000260.4(MYO7A):c.2904G>T:p.Glu968Asp	coding	Pathogenic
11	77181897	A	G	A77181897G	MYO7A	NM_000260.4(MYO7A):c.2905-54A>G	noncoding	Benign
11	77181960	C	T	C77181960T	MYO7A	NM_000260.4(MYO7A):c.2914C>T:p.Arg972Ter	coding	Pathogenic
11	77182356	G	A	G77182356A	MYO7A	NM_000260.4(MYO7A):c.3109-68G>A	noncoding	Benign
11	77183146	C	A	C77183146A	MYO7A	NM_000260.4(MYO7A):c.3364C>A:p.Leu1122Ile	coding	Pathogenic
11	77183190	G	C	G77183190C	MYO7A	NM_000260.4(MYO7A):c.3375+33G>C	noncoding	Benign
11	77184681	A	G	A77184681G	MYO7A	NM_000260.4(MYO7A):c.3469A>G:p.Ile1157Val	coding	Benign
11	77184715	G	A	G77184715A	MYO7A	NM_000260.4(MYO7A):c.3503G>A:p.Arg1168Gln	coding	Pathogenic
11	77184743	G	T	G77184743T	MYO7A	NM_000260.4(MYO7A):c.3503+28G>T	coding	Benign
11	77184747	T	G	T77184747G	MYO7A	NM_000260.4(MYO7A):c.3503+32T>G	coding	Benign
11	77189033	G	A	G77189033A	MYO7A	NM_000260.4(MYO7A):c.3504-311G>A	noncoding	Benign
11	77189222	G	A	G77189222A	MYO7A	NM_000260.4(MYO7A):c.3504-122G>A	noncoding	Benign
11	77189343	G	C	G77189343C	MYO7A	NM_000260.4(MYO7A):c.3504-1G>C	noncoding	Pathogenic
11	77189348	G	A	G77189348A	MYO7A	NM_000260.4(MYO7A):c.3508G>A:p.Glu1170Lys	coding	Pathogenic/Likely_pathogenic
11	77189430	T	C	T77189430C	MYO7A	NM_000260.4(MYO7A):c.3590T>C:p.Leu1197Pro	coding	Pathogenic
11	77189434	C	A	C77189434A	MYO7A	NM_000260.4(MYO7A):c.3594C>A:p.Cys1198Ter	coding	Pathogenic
11	77190108	G	A	G77190108A	MYO7A	NM_000260.4(MYO7A):c.3719G>A:p.Arg1240Gln	coding	Pathogenic
11	77190113	C	T	C77190113T	MYO7A	NM_000260.4(MYO7A):c.3724C>T:p.Gln1242Ter	coding	Pathogenic/Likely_pathogenic
11	77190117	C	G	C77190117G	MYO7A	NM_000260.4(MYO7A):c.3728C>G:p.Pro1243Arg	coding	Pathogenic
11	77190228	C	T	C77190228T	MYO7A	NM_000260.4(MYO7A):c.3750+89C>T	noncoding	Benign
11	77190603	C	G	C77190603G	MYO7A	NM_000260.4(MYO7A):c.3751-94C>G	noncoding	Benign
11	77190774	G	A	G77190774A	MYO7A	NM_000260.4(MYO7A):c.3828G>A:p.Ser1276=	coding	Benign/Likely_benign
11	77190810	C	T	C77190810T	MYO7A	NM_000260.4(MYO7A):c.3864C>T:p.Ala1288=	coding	Benign/Likely_benign
11	77190838	G	A	G77190838A	MYO7A	NM_000260.4(MYO7A):c.3892G>A:p.Gly1298Arg	coding	Pathogenic/Likely_pathogenic
11	77190882	C	T	C77190882T	MYO7A	NM_000260.4(MYO7A):c.3924+12C>T	noncoding	Benign
11	77190979	G	A	G77190979A	MYO7A	NM_000260.4(MYO7A):c.3924+109G>A	noncoding	Benign
11	77191808	A	G	A77191808G	MYO7A	NM_000260.4(MYO7A):c.3925-243A>G	noncoding	Benign
11	77191882	C	T	C77191882T	MYO7A	NM_000260.4(MYO7A):c.3925-169C>T	noncoding	Benign
11	77191958	C	G	C77191958G	MYO7A	NM_000260.4(MYO7A):c.3925-93C>G	noncoding	Benign
11	77192132	C	T	C77192132T	MYO7A	NM_000260.4(MYO7A):c.4006C>T:p.Gln1336Ter	coding	Pathogenic/Likely_pathogenic
11	77192149	C	T	C77192149T	MYO7A	NM_000260.4(MYO7A):c.4023C>T:p.Pro1341=	coding	Benign/Likely_benign
11	77192243	C	T	C77192243T	MYO7A	NM_000260.4(MYO7A):c.4117C>T:p.Arg1373Ter	coding	Pathogenic
11	77194352	A	G	A77194352G	MYO7A	NM_000260.4(MYO7A):c.4153-2A>G	noncoding	Pathogenic
11	77194449	C	A	C77194449A	MYO7A	NM_000260.4(MYO7A):c.4248C>A:p.Tyr1416Ter	coding	Pathogenic
11	77194494	G	A	G77194494A	MYO7A	NM_000260.4(MYO7A):c.4293G>A:p.Trp1431Ter	coding	Pathogenic/Likely_pathogenic
11	77194559	G	T	G77194559T	MYO7A	NM_000260.4(MYO7A):c.4323+35G>T	noncoding	Benign
11	77194680	C	T	C77194680T	MYO7A	NM_000260.4(MYO7A):c.4323+156C>T	noncoding	Benign
11	77197274	C	G	C77197274G	MYO7A	NM_000260.4(MYO7A):c.4324-207C>G	noncoding	Benign
11	77197279	A	G	A77197279G	MYO7A	NM_000260.4(MYO7A):c.4324-202A>G	noncoding	Benign
11	77197511	C	T	C77197511T	MYO7A	NM_000260.4(MYO7A):c.4354C>T:p.Gln1452Ter	coding	Pathogenic
11	77197555	G	A	G77197555A	MYO7A	NM_000260.4(MYO7A):c.4398G>A:p.Trp1466Ter	coding	Pathogenic
11	77197596	C	A	C77197596A	MYO7A	NM_000260.4(MYO7A):c.4439C>A:p.Ser1480Ter	coding	Pathogenic
11	77197617	T	C	T77197617C	MYO7A	NM_000260.4(MYO7A):c.4441+19T>C	noncoding	Benign
11	77197931	C	A	C77197931A	MYO7A	NM_000260.4(MYO7A):c.4441+333C>A	noncoding	Benign
11	77198382	A	G	A77198382G	MYO7A	NM_000260.4(MYO7A):c.4442-113A>G	noncoding	Benign
11	77198488	G	A	G77198488A	MYO7A	NM_000260.4(MYO7A):c.4442-7G>A	noncoding	Benign/Likely_benign
11	77198542	G	C	G77198542C	MYO7A	NM_000260.4(MYO7A):c.4489G>C:p.Gly1497Arg	coding	Pathogenic
11	77198633	C	G	C77198633G	MYO7A	NM_000260.4(MYO7A):c.4568+12C>G	noncoding	Benign/Likely_benign
11	77199274	C	T	C77199274T	MYO7A	NM_000260.4(MYO7A):c.4569-261C>T	noncoding	Benign
11	77199555	C	T	C77199555T	MYO7A	NM_000260.4(MYO7A):c.4589C>T:p.Ser1530Leu	coding	Benign/Likely_benign
11	77199634	G	A	G77199634A	MYO7A	NM_000260.4(MYO7A):c.4668G>A:p.Pro1556=	coding	Benign
11	77199663	C	T	C77199663T	MYO7A	NM_000260.4(MYO7A):c.4697C>T:p.Thr1566Met	coding	Benign/Likely_benign
11	77199721	C	T	C77199721T	MYO7A	NM_000260.4(MYO7A):c.4755C>T:p.Ser1585=	coding	Benign
11	77199771	G	A	G77199771A	MYO7A	NM_000260.4(MYO7A):c.4805G>A:p.Arg1602Gln	coding	Benign/Likely_benign
11	77199787	T	A	T77199787A	MYO7A	NM_000260.4(MYO7A):c.4821T>A:p.Tyr1607Ter	coding	Pathogenic/Likely_pathogenic
11	77199819	G	A	G77199819A	MYO7A	NM_000260.4(MYO7A):c.4852+1G>A	coding	Pathogenic
11	77201545	C	T	C77201545T	MYO7A	NM_000260.4(MYO7A):c.4950C>T:p.Asn1650=	coding	Benign/Likely_benign
11	77201591	A	T	A77201591T	MYO7A	NM_000260.4(MYO7A):c.4996A>T:p.Ser1666Cys	coding	Benign
11	77201600	G	A	G77201600A	MYO7A	NM_000260.4(MYO7A):c.5005G>A:p.Val1669Ile	coding	Benign
11	77201658	C	T	C77201658T	MYO7A	NM_000260.4(MYO7A):c.5043+20C>T	noncoding	Benign
11	77202053	T	C	T77202053C	MYO7A	NM_000260.4(MYO7A):c.5044-247T>C	noncoding	Benign
11	77202357	C	T	C77202357T	MYO7A	NM_000260.4(MYO7A):c.5101C>T:p.Arg1701Ter	coding	Pathogenic/Likely_pathogenic
11	77202402	G	T	G77202402T	MYO7A	NM_000260.4(MYO7A):c.5146G>T:p.Glu1716Ter	coding	Pathogenic
11	77202412	A	G	A77202412G	MYO7A	NM_000260.4(MYO7A):c.5156A>G:p.Tyr1719Cys	coding	Benign/Likely_benign
11	77202426	T	C	T77202426C	MYO7A	NM_000260.4(MYO7A):c.5168+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	77203106	C	A	C77203106A	MYO7A	NM_000260.4(MYO7A):c.5215C>A:p.Arg1739=	coding	Benign/Likely_benign
11	77203106	C	T	C77203106T	MYO7A	NM_000260.4(MYO7A):c.5215C>T:p.Arg1739Ter	coding	Pathogenic/Likely_pathogenic
11	77203215	T	C	T77203215C	MYO7A	NM_000260.4(MYO7A):c.5324T>C:p.Ile1775Thr	coding	Benign/Likely_benign
11	77203220	A	G	A77203220G	MYO7A	NM_000260.4(MYO7A):c.5326+3A>G	noncoding	Pathogenic
11	77203230	C	T	C77203230T	MYO7A	NM_000260.4(MYO7A):c.5326+13C>T	noncoding	Benign/Likely_benign
11	77204094	G	C	G77204094C	MYO7A	NM_000260.4(MYO7A):c.5345G>C:p.Gly1782Ala	coding	Pathogenic
11	77204141	C	T	C77204141T	MYO7A	NM_000260.4(MYO7A):c.5392C>T:p.Gln1798Ter	coding	Pathogenic
11	77204207	C	T	C77204207T	MYO7A	NM_000260.4(MYO7A):c.5458C>T:p.Gln1820Ter	coding	Pathogenic
11	77204391	C	G	C77204391G	MYO7A	NM_000260.4(MYO7A):c.5480+162C>G	noncoding	Benign
11	77205379	A	G	A77205379G	MYO7A	NM_000260.4(MYO7A):c.5481-83A>G	noncoding	Benign
11	77205503	C	G	C77205503G	MYO7A	NM_000260.4(MYO7A):c.5522C>G:p.Thr1841Arg	coding	Pathogenic
11	77205540	C	T	C77205540T	MYO7A	NM_000260.4(MYO7A):c.5559C>T:p.His1853=	coding	Benign/Likely_benign
11	77205554	T	C	T77205554C	MYO7A	NM_000260.4(MYO7A):c.5573T>C:p.Leu1858Pro	coding	Pathogenic/Likely_pathogenic
11	77205562	C	T	C77205562T	MYO7A	NM_000260.4(MYO7A):c.5581C>T:p.Arg1861Ter	coding	Pathogenic
11	77205579	C	A	C77205579A	MYO7A	NM_000260.4(MYO7A):c.5598C>A:p.Leu1866=	coding	Benign/Likely_benign
11	77205598	C	T	C77205598T	MYO7A	NM_000260.4(MYO7A):c.5617C>T:p.Arg1873Trp	coding	Pathogenic/Likely_pathogenic
11	77205599	G	A	G77205599A	MYO7A	NM_000260.4(MYO7A):c.5618G>A:p.Arg1873Gln	coding	Pathogenic
11	77205922	A	G	A77205922G	MYO7A	NM_000260.4(MYO7A):c.5637-175A>G	noncoding	Benign
11	77206108	G	A	G77206108A	MYO7A	NM_000260.4(MYO7A):c.5648G>A:p.Arg1883Gln	coding	Pathogenic/Likely_pathogenic
11	77206120	C	T	C77206120T	MYO7A	NM_000260.4(MYO7A):c.5660C>T:p.Pro1887Leu	coding	Pathogenic/Likely_pathogenic
11	77206175	A	G	A77206175G	MYO7A	NM_000260.4(MYO7A):c.5715A>G:p.Lys1905=	coding	Benign
11	77207027	G	C	G77207027C	MYO7A	NM_000260.4(MYO7A):c.5743-262G>C	noncoding	Benign
11	77207272	C	T	C77207272T	MYO7A	NM_000260.4(MYO7A):c.5743-17C>T	noncoding	Benign
11	77207277	T	C	T77207277C	MYO7A	NM_000260.4(MYO7A):c.5743-12T>C	noncoding	Benign
11	77207295	G	T	G77207295T	MYO7A	NM_000260.4(MYO7A):c.5749G>T:p.Glu1917Ter	coding	Pathogenic
11	77207331	C	T	C77207331T	MYO7A	NM_000260.4(MYO7A):c.5785C>T:p.Gln1929Ter	coding	Pathogenic
11	77207370	G	T	G77207370T	MYO7A	NM_000260.4(MYO7A):c.5824G>T:p.Gly1942Ter	coding	Pathogenic/Likely_pathogenic
11	77207381	C	T	C77207381T	MYO7A	NM_000260.4(MYO7A):c.5835C>T:p.Leu1945=	coding	Benign/Likely_benign
11	77207402	G	A	G77207402A	MYO7A	NM_000260.4(MYO7A):c.5856G>A:p.Lys1952=	coding	Pathogenic/Likely_pathogenic
11	77207407	G	C	G77207407C	MYO7A	NM_000260.4(MYO7A):c.5856+5G>C	noncoding	Pathogenic
11	77207452	G	A	G77207452A	MYO7A	NM_000260.4(MYO7A):c.5856+50G>A	noncoding	Benign
11	77208423	A	T	A77208423T	MYO7A	NM_000260.4(MYO7A):c.5857-7A>T	noncoding	Benign
11	77208433	C	A	C77208433A	MYO7A	NM_000260.4(MYO7A):c.5860C>A:p.Leu1954Ile	coding	Benign
11	77208472	C	T	C77208472T	MYO7A	NM_000260.4(MYO7A):c.5899C>T:p.Arg1967Ter	coding	Pathogenic/Likely_pathogenic
11	77208517	G	A	G77208517A	MYO7A	NM_000260.4(MYO7A):c.5944G>A:p.Gly1982Arg	coding	Pathogenic
11	77208574	G	A	G77208574A	MYO7A	NM_000260.4(MYO7A):c.5944+57G>A	noncoding	Benign
11	77208584	C	T	C77208584T	MYO7A	NM_000260.4(MYO7A):c.5944+67C>T	noncoding	Benign
11	77208720	C	T	C77208720T	MYO7A	NM_000260.4(MYO7A):c.5968C>T:p.Gln1990Ter	coding	Pathogenic/Likely_pathogenic
11	77208780	G	A	G77208780A	MYO7A	NM_000260.4(MYO7A):c.6028G>A:p.Asp2010Asn	coding	Pathogenic/Likely_pathogenic
11	77208781	A	G	A77208781G	MYO7A	NM_000260.4(MYO7A):c.6029A>G:p.Asp2010Gly	coding	Pathogenic
11	77208804	G	A	G77208804A	MYO7A	NM_000260.4(MYO7A):c.6051+1G>A	coding	Pathogenic/Likely_pathogenic
11	77208820	T	A	T77208820A	MYO7A	NM_000260.4(MYO7A):c.6051+17T>A	noncoding	Benign
11	77208958	T	C	T77208958C	MYO7A	NM_000260.4(MYO7A):c.6051+155T>C	noncoding	Benign
11	77208993	T	G	T77208993G	MYO7A	NM_000260.4(MYO7A):c.6051+190T>G	noncoding	Benign
11	77209037	C	G	C77209037G	MYO7A	NM_000260.4(MYO7A):c.6051+234C>G	noncoding	Benign
11	77209066	G	A	G77209066A	MYO7A	NM_000260.4(MYO7A):c.6051+263G>A	noncoding	Benign
11	77211141	G	C	G77211141C	MYO7A	NM_000260.4(MYO7A):c.6052-11G>C	noncoding	Benign/Likely_benign
11	77211163	G	A	G77211163A	MYO7A	NM_000260.4(MYO7A):c.6063G>A:p.Lys2021=	coding	Benign
11	77211170	C	T	C77211170T	MYO7A	NM_000260.4(MYO7A):c.6070C>T:p.Arg2024Ter	coding	Pathogenic
11	77211311	C	T	C77211311T	MYO7A	NM_000260.4(MYO7A):c.6211C>T:p.Gln2071Ter	coding	Pathogenic
11	77211330	G	A	G77211330A	MYO7A	NM_000260.4(MYO7A):c.6230G>A:p.Trp2077Ter	coding	Pathogenic
11	77211823	C	T	C77211823T	MYO7A	NM_000260.4(MYO7A):c.6240C>T:p.Ser2080=	coding	Benign/Likely_benign
11	77211901	G	A	G77211901A	MYO7A	NM_000260.4(MYO7A):c.6318G>A:p.Lys2106=	coding	Benign
11	77211904	G	A	G77211904A	MYO7A	NM_000260.4(MYO7A):c.6321G>A:p.Trp2107Ter	coding	Pathogenic
11	77213021	G	A	G77213021A	MYO7A	NM_000260.4(MYO7A):c.6424G>A:p.Asp2142Asn	coding	Benign/Likely_benign
11	77213085	A	T	A77213085T	MYO7A	NM_000260.4(MYO7A):c.6438+50A>T	noncoding	Benign
11	77213829	G	A	G77213829A	MYO7A	NM_000260.4(MYO7A):c.6439-31G>A	noncoding	Benign
11	77213858	A	G	A77213858G	MYO7A	NM_000260.4(MYO7A):c.6439-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	77213859	G	A	G77213859A	MYO7A	NM_000260.4(MYO7A):c.6439-1G>A	noncoding	Pathogenic
11	77213908	G	A	G77213908A	MYO7A	NM_000260.4(MYO7A):c.6487G>A:p.Gly2163Ser	coding	Pathogenic
11	77213919	C	A	C77213919A	MYO7A	NM_000260.4(MYO7A):c.6498C>A:p.Tyr2166Ter	coding	Pathogenic
11	77213995	G	A	G77213995A	MYO7A	NM_000260.4(MYO7A):c.6558+16G>A	noncoding	Benign
11	77214030	G	T	G77214030T	MYO7A	NM_000260.4(MYO7A):c.6558+51G>T	noncoding	Benign
11	77214350	T	C	T77214350C	MYO7A	NM_000260.4(MYO7A):c.6559-257T>C	noncoding	Benign
11	77214596	C	T	C77214596T	MYO7A	NM_000260.4(MYO7A):c.6559-11C>T	noncoding	Benign/Likely_benign
11	77214688	G	A	G77214688A	MYO7A	NM_000260.4(MYO7A):c.6640G>A:p.Gly2214Ser	coding	Benign/Likely_benign
11	77214926	A	G	A77214926G	MYO7A	NM_000260.4(MYO7A):c.*230A>G	noncoding	Benign/Likely_benign
11	77215059	A	C	A77215059C	MYO7A	NM_000260.4(MYO7A):c.*363A>C	noncoding	Benign/Likely_benign
11	77215200	C	T	C77215200T	MYO7A	NM_000260.4(MYO7A):c.*504C>T	noncoding	Benign/Likely_benign
11	77379318	G	A	G77379318A	PAK1	NM_002576.5(PAK1):c.362C>T:p.Pro121Leu	coding	Pathogenic
11	77379323	T	C	T77379323C	PAK1	NM_002576.5(PAK1):c.357A>G:p.Lys119=	coding	Benign
11	77379335	C	T	C77379335T	PAK1	NM_002576.5(PAK1):c.345G>A:p.Ser115=	coding	Benign
11	78064306	C	T	C78064306T	THRSP	NM_003251.4(THRSP):c.425C>T:p.Thr142Met	coding	Benign
11	78073135	T	A	T78073135A	NDUFC2	NM_004549.6(NDUFC2):c.173A>T:p.His58Leu	coding	Pathogenic
11	78100944	T	C	T78100944C	ALG8	NM_001007027.2(ALG8):c.*272A>G	noncoding	Benign
11	78104013	A	G	A78104013G	ALG8	NM_024079.5(ALG8):c.1316T>C:p.Ile439Thr	coding	Benign/Likely_benign
11	78104346	C	T	C78104346T	ALG8	NM_024079.5(ALG8):c.1276+10G>A	noncoding	Benign
11	78106895	G	A	G78106895A	ALG8	NM_024079.5(ALG8):c.1090C>T:p.Arg364Ter	coding	Pathogenic
11	78106951	A	G	A78106951G	ALG8	NM_024079.5(ALG8):c.1039-5T>C	noncoding	Benign
11	78109441	C	A	C78109441A	ALG8	NM_024079.5(ALG8):c.1038+1G>T	noncoding	Pathogenic
11	78109624	T	C	T78109624C	ALG8	NM_024079.5(ALG8):c.899-43A>G	noncoding	Benign
11	78109627	T	C	T78109627C	ALG8	NM_024079.5(ALG8):c.899-46A>G	noncoding	Benign
11	78112652	A	G	A78112652G	ALG8	NM_024079.5(ALG8):c.896T>C:p.Ile299Thr	coding	Benign/Likely_benign
11	78112686	A	G	A78112686G	ALG8	NM_024079.5(ALG8):c.862T>C:p.Leu288=	coding	Benign
11	78112724	C	T	C78112724T	ALG8	NM_024079.5(ALG8):c.824G>A:p.Gly275Asp	coding	Pathogenic
11	78112745	C	T	C78112745T	ALG8	NM_024079.5(ALG8):c.803G>A:p.Arg268Gln	coding	Benign/Likely_benign
11	78114018	A	G	A78114018G	ALG8	NM_024079.5(ALG8):c.674-29T>C	noncoding	Benign
11	78114229	A	G	A78114229G	ALG8	NM_024079.5(ALG8):c.673+37T>C	noncoding	Benign
11	78114262	T	C	T78114262C	ALG8	NM_024079.5(ALG8):c.673+4A>G	noncoding	Pathogenic
11	78114274	T	C	T78114274C	ALG8	NM_024079.5(ALG8):c.665A>G:p.Asn222Ser	coding	Benign/Likely_benign
11	78114351	T	G	T78114351G	ALG8	NM_024079.5(ALG8):c.588A>C:p.Leu196=	coding	Benign
11	78119193	G	A	G78119193A	ALG8	NM_024079.5(ALG8):c.535C>T:p.Arg179Ter	coding	Pathogenic
11	78121030	T	A	T78121030A	ALG8	NM_024079.5(ALG8):c.478+35A>T	noncoding	Benign
11	78121180	T	C	T78121180C	ALG8	NM_024079.5(ALG8):c.369-6A>G	noncoding	Benign/Likely_benign
11	78127393	T	G	T78127393G	ALG8	NM_024079.5(ALG8):c.139A>C:p.Thr47Pro	coding	Pathogenic
11	78127411	G	A	G78127411A	ALG8	NM_024079.5(ALG8):c.121C>T:p.Arg41Ter	coding	Pathogenic
11	78127438	T	C	T78127438C	ALG8	NM_024079.5(ALG8):c.96-2A>G	noncoding	Pathogenic
11	78139471	C	A	C78139471A	ALG8	NM_024079.5(ALG8):c.95+23G>T	noncoding	Benign
11	78173865	G	A	G78173865A	KCTD21	NM_001029859.3(KCTD21):c.690C>T:p.Ile230=	coding	Benign
11	78210201	C	T	C78210201T	USP35	NM_020798.4(USP35):c.2346C>T:p.Cys782=	coding	Benign
11	78219281	G	A	G78219281A	GAB2	NM_080491.3(GAB2):c.2022C>T:p.Ala674=	coding	Benign
11	78219356	C	T	C78219356T	GAB2	NM_080491.3(GAB2):c.1947G>A:p.Glu649=	coding	Benign
11	78222097	G	A	G78222097A	GAB2	NM_080491.3(GAB2):c.1658+8C>T	noncoding	Benign
11	78226722	G	A	G78226722A	GAB2	NM_080491.3(GAB2):c.950C>T:p.Pro317Leu	coding	Benign
11	78250373	C	A	C78250373A	GAB2	NM_080491.3(GAB2):c.404G>T:p.Gly135Val	coding	Benign
11	78250375	G	A	G78250375A	GAB2	NM_080491.3(GAB2):c.402C>T:p.Ala134=	coding	Benign
11	78441084	T	C	T78441084C	NARS2	NM_024678.6(NARS2):c.1289+7A>G	noncoding	Benign/Likely_benign
11	78443739	A	C	A78443739C	NARS2	NM_024678.6(NARS2):c.1184T>G:p.Leu395Arg	coding	Pathogenic
11	78444040	T	C	T78444040C	NARS2	NM_024678.6(NARS2):c.1165-282A>G	noncoding	Benign
11	78444044	A	G	A78444044G	NARS2	NM_024678.6(NARS2):c.1165-286T>C	noncoding	Benign
11	78465945	G	A	G78465945A	NARS2	NM_024678.6(NARS2):c.1095C>T:p.Phe365=	coding	Benign/Likely_benign
11	78466095	A	G	A78466095G	NARS2	NM_024678.6(NARS2):c.1027-82T>C	noncoding	Benign
11	78466278	C	A	C78466278A	NARS2	NM_024678.6(NARS2):c.1027-265G>T	noncoding	Benign
11	78468987	C	T	C78468987T	NARS2	NM_024678.6(NARS2):c.1026+260G>A	noncoding	Benign
11	78478607	T	C	T78478607C	NARS2	NM_024678.6(NARS2):c.899A>G:p.Lys300Arg	coding	Benign
11	78493061	A	C	A78493061C	NARS2	NM_024678.6(NARS2):c.822+2T>G	noncoding	Pathogenic
11	78493063	C	G	C78493063G	NARS2	NM_024678.6(NARS2):c.822G>C:p.Gln274His	coding	Pathogenic
11	78493158	G	A	G78493158A	NARS2	NM_024678.6(NARS2):c.727C>T:p.Arg243Ter	coding	Pathogenic
11	78493165	C	T	C78493165T	NARS2	NM_024678.6(NARS2):c.720G>A:p.Pro240=	coding	Benign
11	78493178	A	C	A78493178C	NARS2	NM_024678.6(NARS2):c.707T>G:p.Phe236Cys	coding	Pathogenic
11	78493360	C	T	C78493360T	NARS2	NM_024678.6(NARS2):c.690-165G>A	noncoding	Benign
11	78493392	G	A	G78493392A	NARS2	NM_024678.6(NARS2):c.690-197C>T	noncoding	Benign
11	78528890	G	A	G78528890A	NARS2	NM_024678.6(NARS2):c.641C>T:p.Pro214Leu	coding	Pathogenic
11	78559258	A	G	A78559258G	NARS2	NM_024678.6(NARS2):c.594+281T>C	noncoding	Benign
11	78559538	C	T	C78559538T	NARS2	NM_024678.6(NARS2):c.594+1G>A	noncoding	Pathogenic
11	78566222	T	C	T78566222C	NARS2	NM_024678.6(NARS2):c.423A>G:p.Gln141=	coding	Benign/Likely_benign
11	78566231	A	G	A78566231G	NARS2	NM_024678.6(NARS2):c.414T>C:p.Tyr138=	coding	Benign
11	78568635	G	A	G78568635A	NARS2	NM_024678.6(NARS2):c.369C>T:p.Ala123=	coding	Benign/Likely_benign
11	78568693	T	C	T78568693C	NARS2	NM_024678.6(NARS2):c.311A>G:p.Lys104Arg	coding	Benign
11	78568698	T	C	T78568698C	NARS2	NM_024678.6(NARS2):c.306A>G:p.Pro102=	coding	Benign
11	78568744	T	G	T78568744G	NARS2	NM_024678.6(NARS2):c.260A>C:p.Asn87Thr	coding	Benign
11	78568755	A	T	A78568755T	NARS2	NM_024678.6(NARS2):c.252-3T>A	noncoding	Benign
11	78568757	A	G	A78568757G	NARS2	NM_024678.6(NARS2):c.252-5T>C	noncoding	Benign
11	78571412	T	C	T78571412C	NARS2	NM_024678.6(NARS2):c.174A>G:p.Glu58=	coding	Benign
11	78571671	G	A	G78571671A	NARS2	NM_024678.6(NARS2):c.142-227C>T	noncoding	Benign
11	78574051	T	G	T78574051G	NARS2	NM_024678.6(NARS2):c.141+297A>C	noncoding	Benign
11	78574463	C	G	C78574463G	NARS2	NM_024678.6(NARS2):c.26G>C:p.Arg9Pro	coding	Benign
11	78574515	G	T	G78574515T	NARS2	NM_024678.6(NARS2):c.-27C>A	noncoding	Benign
11	78574830	A	T	A78574830T	NARS2	NM_024678.6(NARS2):c.-342T>A	noncoding	Benign
11	78658357	C	T	C78658357T	TENM4	NM_001098816.3(TENM4):c.8011G>A:p.Gly2671Arg	coding	Benign
11	78658358	G	A	G78658358A	TENM4	NM_001098816.3(TENM4):c.8010C>T:p.Tyr2670=	coding	Benign
11	78658368	T	C	T78658368C	TENM4	NM_001098816.3(TENM4):c.8000A>G:p.Gln2667Arg	coding	Benign
11	78658435	C	T	C78658435T	TENM4	NM_001098816.3(TENM4):c.7933G>A:p.Val2645Ile	coding	Benign
11	78658455	C	T	C78658455T	TENM4	NM_001098816.3(TENM4):c.7913G>A:p.Arg2638Gln	coding	Benign
11	78658639	C	A	C78658639A	TENM4	NM_001098816.3(TENM4):c.7729G>T:p.Gly2577Cys	coding	Benign
11	78669283	A	G	A78669283G	TENM4	NM_001098816.3(TENM4):c.7062T>C:p.Asp2354=	coding	Benign
11	78669694	G	A	G78669694A	TENM4	NM_001098816.3(TENM4):c.6651C>T:p.Tyr2217=	coding	Benign
11	78670111	G	A	G78670111A	TENM4	NM_001098816.3(TENM4):c.6234C>T:p.Asn2078=	coding	Benign
11	78670231	T	C	T78670231C	TENM4	NM_001098816.3(TENM4):c.6114A>G:p.Ala2038=	coding	Benign
11	78670240	G	A	G78670240A	TENM4	NM_001098816.3(TENM4):c.6105C>T:p.Asp2035=	coding	Benign
11	78670536	G	C	G78670536C	TENM4	NM_001098816.3(TENM4):c.5809C>G:p.Leu1937Val	coding	Benign
11	78676266	G	A	G78676266A	TENM4	NM_001098816.3(TENM4):c.5382C>T:p.Thr1794=	coding	Benign
11	78701954	G	A	G78701954A	TENM4	NM_001098816.3(TENM4):c.4659C>T:p.Ala1553=	coding	Benign
11	78702287	G	A	G78702287A	TENM4	NM_001098816.3(TENM4):c.4326C>T:p.Ala1442=	coding	Benign
11	78702289	C	T	C78702289T	TENM4	NM_001098816.3(TENM4):c.4324G>A:p.Ala1442Thr	coding	Pathogenic
11	78708470	G	T	G78708470T	TENM4	NM_001098816.3(TENM4):c.4100C>A:p.Thr1367Asn	coding	Pathogenic
11	78708489	T	C	T78708489C	TENM4	NM_001098816.3(TENM4):c.4081A>G:p.Ile1361Val	coding	Benign
11	78722805	G	A	G78722805A	TENM4	NM_001098816.3(TENM4):c.3663C>T:p.Asn1221=	coding	Benign
11	78726217	C	T	C78726217T	TENM4	NM_001098816.3(TENM4):c.3412G>A:p.Val1138Met	coding	Pathogenic
11	78732560	T	C	T78732560C	TENM4	NM_001098816.3(TENM4):c.2894A>G:p.Asn965Ser	coding	Benign
11	78738538	G	A	G78738538A	TENM4	NM_001098816.3(TENM4):c.2789C>T:p.Thr930Ile	coding	Benign
11	78756960	C	T	C78756960T	TENM4	NM_001098816.3(TENM4):c.2601G>A:p.Pro867=	coding	Benign
11	78812138	G	A	G78812138A	TENM4	NM_001098816.3(TENM4):c.1962C>T:p.Gly654=	coding	Benign
11	78812231	G	A	G78812231A	TENM4	NM_001098816.3(TENM4):c.1869C>T:p.Cys623=	coding	Benign
11	78862953	C	A	C78862953A	TENM4	NM_001098816.3(TENM4):c.1255+9G>T	noncoding	Benign
11	78862958	C	T	C78862958T	TENM4	NM_001098816.3(TENM4):c.1255+4G>A	noncoding	Benign
11	78863083	C	G	C78863083G	TENM4	NM_001098816.3(TENM4):c.1134G>C:p.Gln378His	coding	Benign
11	78903279	G	A	G78903279A	TENM4	NM_001098816.3(TENM4):c.738C>T:p.Pro246=	coding	Benign
11	78903332	C	T	C78903332T	TENM4	NM_001098816.3(TENM4):c.685G>A:p.Ala229Thr	coding	Benign
11	79069904	C	T	C79069904T	TENM4	NM_001098816.3(TENM4):c.41G>A:p.Arg14Gln	coding	Benign
11	82839298	G	T	G82839298T	PRCP	NM_005040.4(PRCP):c.1049C>A:p.Ala350Glu	coding	Benign
11	82860028	T	C	T82860028C	PRCP	NM_005040.4(PRCP):c.258A>G:p.Ile86Met	coding	Benign
11	83168850	G	A	G83168850A	PCF11	NM_015885.4(PCF11):c.2515G>A:p.Gly839Ser	coding	Benign
11	83168988	C	T	C83168988T	PCF11	NM_015885.4(PCF11):c.2653C>T:p.Pro885Ser	coding	Benign
11	83177140	A	G	A83177140G	PCF11	NM_015885.4(PCF11):c.3813A>G:p.Glu1271=	coding	Benign
11	83181167	T	C	T83181167C	PCF11	NM_015885.4(PCF11):c.4143T>C:p.His1381=	coding	Benign
11	83459914	T	C	T83459914C	DLG2	NM_001142699.1(DLG2):c.2832A>G:p.Gln944=	coding	Benign
11	83471660	A	G	A83471660G	DLG2	NM_001142699.1(DLG2):c.2412T>C:p.Ser804=	coding	Benign
11	83471683	G	T	G83471683T	DLG2	NM_001142699.1(DLG2):c.2389C>A:p.Arg797=	coding	Benign
11	83786766	T	A	T83786766A	DLG2	NM_001142699.1(DLG2):c.1749A>T:p.Ala583=	coding	Benign
11	83930447	T	C	T83930447C	DLG2	NM_001142699.1(DLG2):c.1377A>G:p.Leu459=	coding	Benign
11	85285229	T	C	T85285229C	DLG2	NM_001142699.1(DLG2):c.177A>G:p.Lys59=	coding	Benign
11	85628300	C	T	C85628300T	TMEM126B	NM_001351274.2(DLG2):c.-748G>A	noncoding	Benign
11	85628336	T	A	T85628336A	TMEM126B	NM_001351274.2(DLG2):c.-784A>T	noncoding	Benign
11	85628391	G	T	G85628391T	TMEM126B	NC_000011.10:g.85628391G>T	noncoding	Benign
11	85628498	G	T	G85628498T	TMEM126B	NC_000011.10:g.85628498G>T	noncoding	Benign
11	85629547	C	T	C85629547T	TMEM126B	NM_018480.5(TMEM126B):c.81+859C>T	noncoding	Benign
11	85631915	T	C	T85631915C	TMEM126B	NM_018480.5(TMEM126B):c.203+107T>C	noncoding	Benign
11	85634090	C	T	C85634090T	TMEM126B	NM_018480.5(TMEM126B):c.208C>T:p.Gln70Ter	coding	Pathogenic
11	85634279	G	A	G85634279A	TMEM126B	NM_001350393.1(TMEM126B):c.172+103G>A	coding	Pathogenic
11	85636055	C	T	C85636055T	TMEM126B	NM_018480.7(TMEM126B):c.519C>T:p.Thr173=	coding	Benign
11	85648028	T	A	T85648028A	TMEM126A	NM_032273.4(TMEM126A):c.-69T>A	noncoding	Benign
11	85654130	A	G	A85654130G	TMEM126A	NM_032273.4(TMEM126A):c.154A>G:p.Ser52Gly	coding	Benign/Likely_benign
11	85654139	C	T	C85654139T	TMEM126A	NM_032273.4(TMEM126A):c.163C>T:p.Arg55Ter	coding	Pathogenic
11	85654167	G	A	G85654167A	TMEM126A	NM_032273.4(TMEM126A):c.191G>A:p.Arg64His	coding	Benign/Likely_benign
11	85654270	C	T	C85654270T	TMEM126A	NM_032273.4(TMEM126A):c.280+14C>T	noncoding	Benign/Likely_benign
11	85655472	C	G	C85655472G	TMEM126A	NM_032273.4(TMEM126A):c.281-122C>G	noncoding	Benign
11	85655713	G	A	G85655713A	TMEM126A	NM_032273.4(TMEM126A):c.395+5G>A	noncoding	Benign/Likely_benign
11	85655718	A	G	A85655718G	TMEM126A	NM_032273.4(TMEM126A):c.395+10A>G	noncoding	Benign
11	85656475	T	A	T85656475A	TMEM126A	NM_032273.4(TMEM126A):c.562T>A:p.Ser188Thr	coding	Benign/Likely_benign
11	85664513	G	A	G85664513A	CREBZF	NM_001039618.3(CREBZF):c.363C>T:p.Asp121=	coding	Benign
11	85711173	C	G	C85711173G	SYTL2	NM_032943.4(SYTL2):c.1759-1673G>C	coding	Benign
11	85720911	G	T	G85720911T	SYTL2	NM_032943.4(SYTL2):c.1508C>A:p.Ala503Asp	coding	Benign
11	85727889	G	A	G85727889A	SYTL2	NM_032943.4(SYTL2):c.1459+7C>T	noncoding	Benign
11	85734193	T	C	T85734193C	SYTL2	NM_032943.4(SYTL2):c.1133A>G:p.Gln378Arg	coding	Benign
11	85736601	C	T	C85736601T	SYTL2	NM_032943.4(SYTL2):c.483G>A:p.Pro161=	coding	Benign
11	85981138	A	C	A85981138C	PICALM	NM_007166.4(PICALM):c.1770T>G:p.Ala590=	coding	Benign
11	85981138	A	T	A85981138T	PICALM	NM_007166.4(PICALM):c.1770T>A:p.Ala590=	coding	Benign
11	85981150	G	A	G85981150A	PICALM	NM_007166.4(PICALM):c.1758C>T:p.Thr586=	coding	Benign
11	85996869	T	C	T85996869C	PICALM	NM_007166.4(PICALM):c.1215A>G:p.Val405=	coding	Benign
11	85996936	A	T	A85996936T	PICALM	NM_007166.4(PICALM):c.1155-7T>A	noncoding	Benign
11	85996937	G	A	G85996937A	PICALM	NM_007166.4(PICALM):c.1155-8C>T	noncoding	Benign
11	86001110	T	C	T86001110C	PICALM	NM_007166.4(PICALM):c.942A>G:p.Leu314=	coding	Benign
11	86007598	T	C	T86007598C	PICALM	NM_007166.4(PICALM):c.766-15A>G	noncoding	Benign
11	86014894	C	T	C86014894T	PICALM	NM_007166.4(PICALM):c.522G>A:p.Gln174=	coding	Benign
11	86264244	G	C	G86264244C	EED	NM_003797.5(EED):c.707G>C:p.Arg236Thr	coding	Pathogenic
11	86266128	C	T	C86266128T	EED	NM_003797.5(EED):c.772C>T:p.His258Tyr	coding	Pathogenic
11	86268499	A	G	A86268499G	EED	NM_003797.5(EED):c.904A>G:p.Arg302Gly	coding	Pathogenic
11	86268501	A	C	A86268501C	EED	NM_003797.5(EED):c.906A>C:p.Arg302Ser	coding	Pathogenic
11	86277075	G	A	G86277075A	EED	NM_003797.5(EED):c.1062G>A:p.Gly354=	coding	Benign
11	86278001	T	C	T86278001C	EED	NM_003797.5(EED):c.1199+10T>C	noncoding	Benign
11	86306374	G	C	G86306374C	HIKESHI	NM_016401.4(HIKESHI):c.160G>C:p.Val54Leu	coding	Pathogenic
11	86306418	A	G	A86306418G	HIKESHI	NM_016401.4(HIKESHI):c.204A>G:p.Gln68=	coding	Benign
11	86344716	G	A	G86344716A	HIKESHI	NM_016401.4(HIKESHI):c.534G>A:p.Leu178=	coding	Benign
11	86497986	G	A	G86497986A	ME3	NM_001014811.1(ME3):c.682C>T:p.Leu228=	coding	Benign
11	86945691	C	T	C86945691T	FZD4	NM_012193.4(FZD4):c.*5451G>A	noncoding	Benign
11	86945774	G	A	G86945774A	FZD4	NM_012193.4(FZD4):c.*5368C>T	noncoding	Benign
11	86946065	G	C	G86946065C	FZD4	NM_012193.4(FZD4):c.*5077C>G	noncoding	Benign
11	86946259	C	A	C86946259A	FZD4	NM_012193.4(FZD4):c.*4883G>T	noncoding	Benign
11	86946367	G	A	G86946367A	FZD4	NM_012193.4(FZD4):c.*4775C>T	noncoding	Benign
11	86946377	A	G	A86946377G	FZD4	NM_012193.4(FZD4):c.*4765T>C	noncoding	Benign
11	86946478	A	G	A86946478G	FZD4	NM_012193.4(FZD4):c.*4664T>C	noncoding	Benign
11	86946524	C	T	C86946524T	FZD4	NM_012193.4(FZD4):c.*4618G>A	noncoding	Benign
11	86946624	G	C	G86946624C	FZD4	NM_012193.4(FZD4):c.*4518C>G	noncoding	Benign
11	86946807	A	G	A86946807G	FZD4	NM_012193.4(FZD4):c.*4335T>C	noncoding	Benign
11	86947254	C	T	C86947254T	FZD4	NM_012193.4(FZD4):c.*3888G>A	noncoding	Benign
11	86947367	G	A	G86947367A	FZD4	NM_012193.4(FZD4):c.*3775C>T	noncoding	Benign
11	86947372	T	A	T86947372A	FZD4	NM_012193.4(FZD4):c.*3770A>T	noncoding	Benign
11	86947442	T	C	T86947442C	FZD4	NM_012193.4(FZD4):c.*3700A>G	noncoding	Benign
11	86947503	T	C	T86947503C	FZD4	NM_012193.4(FZD4):c.*3639A>G	noncoding	Benign
11	86947568	G	A	G86947568A	FZD4	NM_012193.4(FZD4):c.*3574C>T	noncoding	Benign
11	86947740	C	A	C86947740A	FZD4	NM_012193.4(FZD4):c.*3402G>T	noncoding	Benign
11	86948171	A	G	A86948171G	FZD4	NM_012193.4(FZD4):c.*2971T>C	noncoding	Benign
11	86948182	A	G	A86948182G	FZD4	NM_012193.4(FZD4):c.*2960T>C	noncoding	Benign
11	86948482	G	A	G86948482A	FZD4	NM_012193.4(FZD4):c.*2660C>T	noncoding	Benign
11	86948503	T	C	T86948503C	FZD4	NM_012193.4(FZD4):c.*2639A>G	noncoding	Benign
11	86948561	C	A	C86948561A	FZD4	NM_012193.4(FZD4):c.*2581G>T	noncoding	Benign
11	86948600	A	G	A86948600G	FZD4	NM_012193.4(FZD4):c.*2542T>C	noncoding	Benign
11	86948625	T	C	T86948625C	FZD4	NM_012193.4(FZD4):c.*2517A>G	noncoding	Benign
11	86949041	G	C	G86949041C	FZD4	NM_012193.4(FZD4):c.*2101C>G	noncoding	Benign
11	86949095	G	A	G86949095A	FZD4	NM_012193.4(FZD4):c.*2047C>T	noncoding	Benign
11	86949210	C	G	C86949210G	FZD4	NM_012193.4(FZD4):c.*1932G>C	noncoding	Benign
11	86949661	G	A	G86949661A	FZD4	NM_012193.4(FZD4):c.*1481C>T	noncoding	Benign
11	86949844	G	A	G86949844A	FZD4	NM_012193.4(FZD4):c.*1298C>T	noncoding	Benign
11	86950195	C	T	C86950195T	FZD4	NM_012193.4(FZD4):c.*947G>A	noncoding	Benign
11	86950315	T	C	T86950315C	FZD4	NM_012193.4(FZD4):c.*827A>G	noncoding	Benign
11	86950343	T	C	T86950343C	FZD4	NM_012193.4(FZD4):c.*799A>G	noncoding	Benign
11	86950378	A	G	A86950378G	FZD4	NM_012193.4(FZD4):c.*764T>C	noncoding	Benign
11	86950495	T	C	T86950495C	FZD4	NM_012193.4(FZD4):c.*647A>G	noncoding	Benign
11	86950939	T	C	T86950939C	FZD4	NM_012193.4(FZD4):c.*203A>G	noncoding	Benign
11	86951007	G	A	G86951007A	FZD4	NM_012193.4(FZD4):c.*135C>T	noncoding	Benign
11	86951014	C	T	C86951014T	FZD4	NM_012193.4(FZD4):c.*128G>A	noncoding	Benign
11	86951140	C	A	C86951140A	FZD4	NM_012193.4(FZD4):c.*2G>T	noncoding	Benign
11	86951167	C	T	C86951167T	FZD4	NM_012193.4(FZD4):c.1589G>A:p.Gly530Glu	coding	Benign
11	86951269	C	T	C86951269T	FZD4	NM_012193.4(FZD4):c.1487G>A:p.Trp496Ter	coding	Pathogenic
11	86951351	C	T	C86951351T	FZD4	NM_012193.4(FZD4):c.1405G>A:p.Ala469Thr	coding	Benign
11	86951506	C	T	C86951506T	FZD4	NM_012193.4(FZD4):c.1250G>A:p.Arg417Gln	coding	Pathogenic
11	86951732	T	C	T86951732C	FZD4	NM_012193.4(FZD4):c.1024A>G:p.Met342Val	coding	Pathogenic
11	86951751	C	G	C86951751G	FZD4	NM_012193.4(FZD4):c.1005G>C:p.Trp335Cys	coding	Pathogenic
11	86951990	T	C	T86951990C	FZD4	NM_012193.4(FZD4):c.766A>G:p.Ile256Val	coding	Pathogenic
11	86952078	C	T	C86952078T	FZD4	NM_012193.4(FZD4):c.678G>A:p.Trp226Ter	coding	Pathogenic
11	86952090	C	T	C86952090T	FZD4	NM_012193.4(FZD4):c.666G>A:p.Trp222Ter	coding	Pathogenic
11	86952145	C	T	C86952145T	FZD4	NM_012193.4(FZD4):c.611G>A:p.Cys204Tyr	coding	Pathogenic
11	86952214	C	T	C86952214T	FZD4;PRSS23	NM_012193.4(FZD4):c.542G>A:p.Cys181Tyr	coding	Pathogenic
11	86952254	G	A	G86952254A	FZD4	NM_012193.4(FZD4):c.502C>T:p.Pro168Ser	coding	Benign
11	86952443	T	C	T86952443C	FZD4	NM_012193.4(FZD4):c.313A>G:p.Met105Val	coding	Pathogenic
11	86954989	G	A	G86954989A	FZD4	NM_012193.4(FZD4):c.97C>T:p.Pro33Ser	coding	Benign/Likely_benign
11	86955077	C	T	C86955077T	FZD4	NM_012193.4(FZD4):c.9G>A:p.Trp3Ter	coding	Pathogenic
11	86955097	G	T	G86955097T	FZD4	NM_012193.4(FZD4):c.-12C>A	noncoding	Benign
11	86955215	G	A	G86955215A	FZD4	NM_012193.4(FZD4):c.-130C>T	noncoding	Benign
11	86955347	G	A	G86955347A	FZD4	NM_012193.4(FZD4):c.-262C>T	noncoding	Benign
11	87067726	C	G	C87067726G	TMEM135	NM_022918.4(TMEM135):c.174C>G:p.Asp58Glu	coding	Benign
11	87067759	A	G	A87067759G	TMEM135	NM_022918.4(TMEM135):c.207A>G:p.Leu69=	coding	Benign
11	87302351	T	C	T87302351C	TMEM135	NM_022918.4(TMEM135):c.607T>C:p.Tyr203His	coding	Benign
11	88293727	T	C	T88293727C	CTSC	NM_001814.6(CTSC):c.*279A>G	noncoding	Benign
11	88293753	A	G	A88293753G	CTSC	NM_001814.6(CTSC):c.*253T>C	noncoding	Benign
11	88294041	T	C	T88294041C	CTSC	NM_001814.6(CTSC):c.1357A>G:p.Ile453Val	coding	Benign/Likely_benign
11	88294105	G	A	G88294105A	CTSC	NM_001814.6(CTSC):c.1293C>T:p.Thr431=	coding	Benign
11	88294111	C	G	C88294111G	CTSC	NM_001814.6(CTSC):c.1287G>C:p.Trp429Cys	coding	Pathogenic
11	88294163	T	C	T88294163C	CTSC	NM_001814.6(CTSC):c.1235A>G:p.Tyr412Cys	coding	Pathogenic
11	88294225	A	C	A88294225C	CTSC	NM_001814.6(CTSC):c.1173T>G:p.Thr391=	coding	Benign
11	88294252	G	A	G88294252A	CTSC	NM_001814.6(CTSC):c.1146C>T:p.His382=	coding	Benign/Likely_benign
11	88294358	T	C	T88294358C	CTSC	NM_001814.6(CTSC):c.1040A>G:p.Tyr347Cys	coding	Pathogenic
11	88294497	C	T	C88294497T	CTSC	NM_001814.6(CTSC):c.901G>A:p.Gly301Ser	coding	Pathogenic
11	88294509	C	T	C88294509T	CTSC	NM_001814.6(CTSC):c.890-1G>A	coding	Pathogenic
11	88296165	T	C	T88296165C	CTSC	NM_001814.6(CTSC):c.857A>G:p.Gln286Arg	coding	Pathogenic
11	88296166	G	A	G88296166A	CTSC	NM_001814.6(CTSC):c.856C>T:p.Gln286Ter	coding	Pathogenic
11	88296197	G	A	G88296197A	CTSC	NM_001814.6(CTSC):c.825C>T:p.Thr275=	coding	Benign
11	88300493	A	G	A88300493G	CTSC	NM_001814.6(CTSC):c.757+37T>C	noncoding	Benign
11	88309176	G	A	G88309176A	CTSC	NM_001814.6(CTSC):c.628C>T:p.Arg210Ter	coding	Pathogenic
11	88312415	A	G	A88312415G	CTSC	NM_001814.6(CTSC):c.458T>C:p.Ile153Thr	coding	Benign
11	88312493	T	G	T88312493G	CTSC	NM_001814.6(CTSC):c.380A>C:p.His127Pro	coding	Pathogenic
11	88335052	A	C	A88335052C	CTSC	NM_001814.6(CTSC):c.203T>G:p.Leu68Arg	coding	Pathogenic
11	88337557	C	G	C88337557G	CTSC	NM_001814.6(CTSC):c.116G>C:p.Trp39Ser	coding	Pathogenic
11	88337577	A	C	A88337577C	CTSC	NM_001814.6(CTSC):c.96T>G:p.Tyr32Ter	coding	Pathogenic
11	88337690	A	G	A88337690G	CTSC	NM_001814.6(CTSC):c.-18T>C	noncoding	Benign
11	88337734	G	A	G88337734A	CTSC	NM_001814.6(CTSC):c.-62C>T	noncoding	Benign
11	88337746	A	G	A88337746G	CTSC	NM_001814.5(CTSC):c.-74T>C	noncoding	Benign
11	88508859	C	G	C88508859G	GRM5	NM_001143831.2(GRM5):c.3372G>C:p.Thr1124=	coding	Benign
11	88509299	C	T	C88509299T	GRM5	NM_001143831.2(GRM5):c.2932G>A:p.Gly978Ser	coding	Benign
11	88509300	C	A	C88509300A	GRM5	NM_001143831.2(GRM5):c.2931G>T:p.Thr977=	coding	Benign
11	88509453	C	T	C88509453T	GRM5	NM_001143831.2(GRM5):c.2778G>A:p.Gly926=	coding	Benign
11	88567073	G	T	G88567073T	GRM5	NM_001143831.2(GRM5):c.2610C>A:p.Gly870=	coding	Benign
11	88567463	A	C	A88567463C	GRM5	NM_001143831.2(GRM5):c.2220T>G:p.Val740=	coding	Benign
11	88567556	A	T	A88567556T	GRM5	NM_001143831.2(GRM5):c.2127T>A:p.Val709=	coding	Benign
11	88567649	C	T	C88567649T	GRM5	NM_001143831.2(GRM5):c.2034G>A:p.Lys678=	coding	Benign
11	88567795	A	G	A88567795G	GRM5	NM_001143831.2(GRM5):c.1888T>C:p.Leu630=	coding	Benign
11	88604754	G	A	G88604754A	GRM5	NM_001143831.2(GRM5):c.1358C>T:p.Thr453Met	coding	Benign
11	88604846	A	G	A88604846G	GRM5	NM_001143831.2(GRM5):c.1266T>C:p.Tyr422=	coding	Benign
11	88604906	G	A	G88604906A	GRM5	NM_001143831.2(GRM5):c.1206C>T:p.Asn402=	coding	Benign
11	88604924	T	C	T88604924C	GRM5	NM_001143831.2(GRM5):c.1188A>G:p.Lys396=	coding	Benign
11	88653410	G	C	G88653410C	GRM5	NM_001143831.2(GRM5):c.912-7C>G	noncoding	Benign
11	89047216	T	G	T89047216G	GRM5	NM_001143831.2(GRM5):c.657A>C:p.Thr219=	coding	Benign
11	89047684	C	T	C89047684T	GRM5	NM_001143831.2(GRM5):c.189G>A:p.Gln63=	coding	Benign
11	89047786	A	G	A89047786G	GRM5	NM_001143831.2(GRM5):c.87T>C:p.Ala29=	coding	Benign
11	89177755	C	A	C89177755A	TYR	NM_000372.4(TYR):c.-199C>A	noncoding	Benign
11	89178067	G	A	G89178067A	TYR	NM_000372.5(TYR):c.114G>A:p.Pro38=	coding	Benign/Likely_benign
11	89178069	G	A	G89178069A	TYR	NM_000372.5(TYR):c.116G>A:p.Trp39Ter	coding	Pathogenic
11	89178078	A	G	A89178078G	TYR	NM_000372.5(TYR):c.125A>G:p.Asp42Gly	coding	Pathogenic
11	89178093	G	A	G89178093A	TYR	NM_000372.5(TYR):c.140G>A:p.Gly47Asp	coding	Pathogenic/Likely_pathogenic
11	89178117	G	A	G89178117A	TYR	NM_000372.5(TYR):c.164G>A:p.Cys55Tyr	coding	Pathogenic
11	89178131	C	T	C89178131T	TYR	NM_000372.5(TYR):c.178C>T:p.Leu60=	coding	Benign
11	89178182	C	T	C89178182T	TYR	NM_000372.5(TYR):c.229C>T:p.Arg77Trp	coding	Pathogenic
11	89178183	G	A	G89178183A	TYR	NM_000372.5(TYR):c.230G>A:p.Arg77Gln	coding	Pathogenic/Likely_pathogenic
11	89178195	C	T	C89178195T	TYR	NM_000372.5(TYR):c.242C>T:p.Pro81Leu	coding	Pathogenic
11	89178218	T	C	T89178218C	TYR	NM_000372.5(TYR):c.265T>C:p.Cys89Arg	coding	Pathogenic/Likely_pathogenic
11	89178225	G	A	G89178225A	TYR	NM_000372.5(TYR):c.272G>A:p.Cys91Tyr	coding	Pathogenic
11	89178299	C	T	C89178299T	TYR	NM_000372.5(TYR):c.346C>T:p.Arg116Ter	coding	Pathogenic
11	89178486	G	A	G89178486A	TYR	NM_000372.5(TYR):c.533G>A:p.Trp178Ter	coding	Pathogenic
11	89178566	C	A	C89178566A	TYR	NM_000372.5(TYR):c.613C>A:p.Pro205Thr	coding	Pathogenic
11	89178569	G	A	G89178569A	TYR	NM_000372.5(TYR):c.616G>A:p.Ala206Thr	coding	Pathogenic
11	89178599	T	A	T89178599A	TYR	NM_000372.5(TYR):c.646T>A:p.Leu216Met	coding	Pathogenic
11	89178602	C	T	C89178602T	TYR	NM_000372.5(TYR):c.649C>T:p.Arg217Trp	coding	Pathogenic/Likely_pathogenic
11	89178603	G	A	G89178603A	TYR	NM_000372.5(TYR):c.650G>A:p.Arg217Gln	coding	Pathogenic/Likely_pathogenic
11	89178608	G	A	G89178608A	TYR	NM_000372.5(TYR):c.655G>A:p.Glu219Lys	coding	Pathogenic
11	89178611	C	T	C89178611T	TYR	NM_000372.5(TYR):c.658C>T:p.Gln220Ter	coding	Pathogenic
11	89178614	G	A	G89178614A	TYR	NM_000372.5(TYR):c.661G>A:p.Glu221Lys	coding	Pathogenic
11	89178660	G	A	G89178660A	TYR	NM_000372.5(TYR):c.707G>A:p.Trp236Ter	coding	Pathogenic
11	89178667	G	A	G89178667A	TYR	NM_000372.5(TYR):c.714G>A:p.Trp238Ter	coding	Pathogenic
11	89178706	C	A	C89178706A	TYR	NM_000372.5(TYR):c.753C>A:p.Tyr251Ter	coding	Pathogenic
11	89191199	C	G	C89191199G	TYR	NM_000372.5(TYR):c.820-3C>G	noncoding	Pathogenic
11	89191205	G	T	G89191205T	TYR	NM_000372.5(TYR):c.823G>T:p.Val275Phe	coding	Pathogenic/Likely_pathogenic
11	89191214	C	T	C89191214T	TYR	NM_000372.5(TYR):c.832C>T:p.Arg278Ter	coding	Pathogenic
11	89191217	T	C	T89191217C	TYR	NM_000372.5(TYR):c.835T>C:p.Leu279=	coding	Benign/Likely_benign
11	89191262	G	A	G89191262A	TYR	NM_000372.5(TYR):c.880G>A:p.Glu294Lys	coding	Pathogenic
11	89191277	C	A	C89191277A	TYR	NM_000372.5(TYR):c.895C>A:p.Arg299Ser	coding	Pathogenic
11	89191278	G	A	G89191278A	TYR	NM_000372.5(TYR):c.896G>A:p.Arg299His	coding	Pathogenic
11	89191358	C	T	C89191358T	TYR	NM_000372.5(TYR):c.976C>T:p.Gln326Ter	coding	Pathogenic
11	89191364	G	A	G89191364A	TYR	NM_000372.5(TYR):c.982G>A:p.Glu328Lys	coding	Pathogenic
11	89191418	G	T	G89191418T	TYR	NM_000372.5(TYR):c.1036G>T:p.Gly346Ter	coding	Pathogenic
11	89227816	T	A	T89227816A	TYR	NM_000372.5(TYR):c.1037-7T>A	noncoding	Pathogenic/Likely_pathogenic
11	89227821	A	G	A89227821G	TYR	NM_000372.5(TYR):c.1037-2A>G	noncoding	Pathogenic
11	89227822	G	A	G89227822A	TYR	NM_000372.5(TYR):c.1037-1G>A	noncoding	Pathogenic
11	89227849	G	C	G89227849C	TYR	NM_000372.5(TYR):c.1063G>C:p.Ala355Pro	coding	Pathogenic
11	89227896	G	A	G89227896A	TYR	NM_000372.5(TYR):c.1110G>A:p.Met370Ile	coding	Pathogenic
11	89227897	A	T	A89227897T	TYR	NM_000372.5(TYR):c.1111A>T:p.Asn371Tyr	coding	Pathogenic
11	89227898	A	C	A89227898C	TYR	NM_000372.5(TYR):c.1112A>C:p.Asn371Thr	coding	Pathogenic
11	89227904	C	A	C89227904A	TYR	NM_000372.5(TYR):c.1118C>A:p.Thr373Lys	coding	Pathogenic
11	89227932	C	A	C89227932A	TYR	NM_000372.5(TYR):c.1146C>A:p.Asn382Lys	coding	Pathogenic
11	89227933	G	A	G89227933A	TYR	NM_000372.5(TYR):c.1147G>A:p.Asp383Asn	coding	Pathogenic
11	89284771	A	G	A89284771G	TYR	NM_000372.5(TYR):c.1185-2A>G	noncoding	Pathogenic
11	89284787	G	T	G89284787T	TYR	NM_000372.5(TYR):c.1199G>T:p.Trp400Leu	coding	Pathogenic/Likely_pathogenic
11	89284792	C	T	C89284792T	TYR	NM_000372.5(TYR):c.1204C>T:p.Arg402Ter	coding	Pathogenic
11	89284797	G	T	G89284797T	TYR	NM_000372.5(TYR):c.1209G>T:p.Arg403Ser	coding	Pathogenic/Likely_pathogenic
11	89284805	C	T	C89284805T	TYR	NM_000372.5(TYR):c.1217C>T:p.Pro406Leu	coding	Pathogenic/Likely_pathogenic
11	89284843	G	A	G89284843A	TYR	NM_000372.5(TYR):c.1255G>A:p.Gly419Arg	coding	Pathogenic/Likely_pathogenic
11	89284853	G	A	G89284853A	TYR	NM_000372.5(TYR):c.1265G>A:p.Arg422Gln	coding	Pathogenic
11	89284863	C	G	C89284863G	TYR	NM_000372.5(TYR):c.1275C>G:p.Tyr425Ter	coding	Pathogenic
11	89284924	G	A	G89284924A	TYR	NM_000372.5(TYR):c.1336G>A:p.Gly446Ser	coding	Pathogenic/Likely_pathogenic
11	89284930	G	A	G89284930A	TYR	NM_000372.5(TYR):c.1342G>A:p.Asp448Asn	coding	Pathogenic
11	89340101	G	A	G89340101A	NOX4	NM_016931.5(NOX4):c.1408C>T:p.Arg470Cys	coding	Benign
11	89342199	G	A	G89342199A	NOX4	NM_016931.5(NOX4):c.1218-6C>T	noncoding	Benign
11	89400338	G	C	G89400338C	NOX4	NM_016931.5(NOX4):c.888C>G:p.Ala296=	coding	Benign
11	92354821	A	C	A92354821C	FAT3	NM_001008781.2(FAT3):c.2709A>C:p.Lys903Asn	coding	Benign
11	92762008	G	A	G92762008A	FAT3	NM_001008781.2(FAT3):c.3822G>A:p.Pro1274=	coding	Benign
11	92774038	C	T	C92774038T	FAT3	NM_001008781.2(FAT3):c.4196-3C>T	noncoding	Benign
11	92790205	T	C	T92790205C	FAT3	NM_001008781.2(FAT3):c.4598T>C:p.Ile1533Thr	coding	Benign
11	92798404	G	A	G92798404A	FAT3	NM_001008781.2(FAT3):c.5391G>A:p.Val1797=	coding	Benign/Likely_benign
11	92799799	C	T	C92799799T	FAT3	NM_001008781.2(FAT3):c.6786C>T:p.Asp2262=	coding	Benign
11	92800088	C	T	C92800088T	FAT3	NM_001008781.2(FAT3):c.7075C>T:p.His2359Tyr	coding	Benign
11	92800138	C	T	C92800138T	FAT3	NM_001008781.2(FAT3):c.7125C>T:p.Ser2375=	coding	Benign
11	92801167	A	C	A92801167C	FAT3	NM_001008781.2(FAT3):c.8154A>C:p.Ala2718=	coding	Benign
11	92805185	C	T	C92805185T	FAT3	NM_001008781.2(FAT3):c.8929C>T:p.Leu2977=	coding	Benign
11	92805256	C	T	C92805256T	FAT3	NM_001008781.2(FAT3):c.9000C>T:p.Leu3000=	coding	Benign
11	92840666	A	G	A92840666G	FAT3	NM_001008781.2(FAT3):c.10473A>G:p.Glu3491=	coding	Benign
11	92844493	G	T	G92844493T	FAT3	NM_001008781.2(FAT3):c.11126G>T:p.Ser3709Ile	coding	Benign
11	92859187	T	A	T92859187A	FAT3	NM_001008781.2(FAT3):c.11523T>A:p.Ala3841=	coding	Benign
11	92882731	G	A	G92882731A	FAT3	NM_001008781.2(FAT3):c.12282-7G>A	noncoding	Benign
11	92882840	C	T	C92882840T	FAT3	NM_001008781.2(FAT3):c.12384C>T:p.Tyr4128=	coding	Benign
11	92882855	C	T	C92882855T	FAT3	NM_001008781.2(FAT3):c.12399C>T:p.Cys4133=	coding	Benign
11	92890766	G	A	G92890766A	FAT3	NM_001008781.2(FAT3):c.13327G>A:p.Ala4443Thr	coding	Benign
11	92981601	C	T	C92981601T	MTNR1B	NM_005959.3(MTNR1B):c.378C>T:p.Gly126=	coding	Benign
11	93667736	C	A	C93667736A	CEP295	NM_033395.2(CEP295):c.238C>A:p.Gln80Lys	coding	Benign
11	93675577	G	A	G93675577A	CEP295	NM_033395.2(CEP295):c.535G>A:p.Glu179Lys	coding	Benign
11	93679421	C	T	C93679421T	CEP295	NM_033395.2(CEP295):c.634C>T:p.Arg212Cys	coding	Benign
11	93687848	C	T	C93687848T	CEP295	NM_033395.2(CEP295):c.1319C>T:p.Ser440Phe	coding	Benign
11	93697503	C	G	C93697503G	CEP295	NM_033395.2(CEP295):c.2591C>G:p.Thr864Ser	coding	Benign
11	93697504	T	A	T93697504A	CEP295	NM_033395.2(CEP295):c.2592T>A:p.Thr864=	coding	Benign
11	93697575	T	C	T93697575C	CEP295	NM_033395.2(CEP295):c.2663T>C:p.Phe888Ser	coding	Benign
11	93697876	C	T	C93697876T	CEP295	NM_033395.2(CEP295):c.2964C>T:p.Ser988=	coding	Benign
11	93697988	G	A	G93697988A	CEP295	NM_033395.2(CEP295):c.3076G>A:p.Glu1026Lys	coding	Benign
11	93699288	T	G	T93699288G	CEP295	NM_033395.2(CEP295):c.4376T>G:p.Leu1459Arg	coding	Benign
11	93699430	G	A	G93699430A	CEP295	NM_033395.2(CEP295):c.4518G>A:p.Gln1506=	coding	Benign
11	93699692	A	C	A93699692C	CEP295	NM_033395.2(CEP295):c.4780A>C:p.Lys1594Gln	coding	Benign
11	93700096	G	A	G93700096A	CEP295	NM_033395.2(CEP295):c.5184G>A:p.Gln1728=	coding	Benign
11	93727098	C	G	C93727098G	CEP295	NM_033395.2(CEP295):c.6622C>G:p.Gln2208Glu	coding	Benign
11	93729729	T	C	T93729729C	CEP295	NM_033395.2(CEP295):c.7515T>C:p.Ile2505=	coding	Benign
11	93730151	G	A	G93730151A	CEP295	NM_033395.2(CEP295):c.7767+3G>A	noncoding	Benign
11	93730221	C	T	C93730221T	CEP295	NM_033395.2(CEP295):c.7768-10C>T	noncoding	Benign
11	93784708	C	G	C93784708G	MED17	NM_004268.5(MED17):c.195C>G:p.Gly65=	coding	Benign
11	93784716	A	C	A93784716C	MED17	NM_004268.5(MED17):c.203A>C:p.Gln68Pro	coding	Benign
11	93784720	G	C	G93784720C	MED17	NM_004268.5(MED17):c.207G>C:p.Glu69Asp	coding	Benign
11	93784737	C	G	C93784737G	MED17	NM_004268.5(MED17):c.224C>G:p.Ser75Cys	coding	Benign
11	93784770	C	T	C93784770T	MED17	NM_004268.5(MED17):c.250+7C>T	noncoding	Benign
11	93787993	C	T	C93787993T	MED17	NM_004268.5(MED17):c.251-8C>T	noncoding	Benign
11	93790585	G	A	G93790585A	MED17	NM_004268.5(MED17):c.429G>A:p.Thr143=	coding	Benign
11	93790745	C	T	C93790745T	MED17	NM_004268.5(MED17):c.589C>T:p.Arg197Ter	coding	Pathogenic
11	93794053	T	C	T93794053C	MED17	NM_004268.5(MED17):c.859+18T>C	noncoding	Benign
11	93795026	G	C	G93795026C	MED17	NM_004268.5(MED17):c.978G>C:p.Val326=	coding	Benign
11	93795059	G	A	G93795059A	MED17	NM_004268.5(MED17):c.1011G>A:p.Pro337=	coding	Benign
11	93796489	G	A	G93796489A	MED17	NM_004268.5(MED17):c.1092G>A:p.Pro364=	coding	Benign
11	93796509	T	C	T93796509C	MED17	NM_004268.5(MED17):c.1112T>C:p.Leu371Pro	coding	Pathogenic
11	93797651	A	G	A93797651G	MED17	NM_004268.5(MED17):c.1260A>G:p.Ser420=	coding	Benign
11	93801824	G	A	G93801824A	MED17	NM_004268.5(MED17):c.1329-11G>A	noncoding	Benign
11	93801950	C	T	C93801950T	MED17	NM_004268.5(MED17):c.1444C>T:p.Gln482Ter	coding	Pathogenic
11	93807533	A	G	A93807533G	MED17	NM_004268.5(MED17):c.1482A>G:p.Gln494=	coding	Benign
11	93807551	G	A	G93807551A	MED17	NM_004268.5(MED17):c.1500G>A:p.Glu500=	coding	Benign
11	93809729	C	T	C93809729T	MED17	NM_004268.5(MED17):c.1597C>T:p.Gln533Ter	coding	Pathogenic
11	93809737	T	C	T93809737C	MED17	NM_004268.5(MED17):c.1605T>C:p.His535=	coding	Benign
11	93811856	G	A	G93811856A	MED17	NM_004268.5(MED17):c.1748G>A:p.Arg583His	coding	Benign
11	94067750	G	A	G94067750A	HEPHL1	NM_001098672.2(HEPHL1):c.1063G>A:p.Ala355Thr	coding	Pathogenic
11	94088936	C	T	C94088936T	HEPHL1	NM_001098672.2(HEPHL1):c.2262C>T:p.Phe754=	coding	Benign
11	94111033	T	C	T94111033C	HEPHL1	NM_001098672.2(HEPHL1):c.3176T>C:p.Met1059Thr	coding	Pathogenic
11	94129393	G	T	G94129393T	PANX1	NM_015368.4(PANX1):c.81G>T:p.Gly27=	coding	Benign
11	94180092	A	G	A94180092G	PANX1	NM_015368.4(PANX1):c.1036A>G:p.Lys346Glu	coding	Pathogenic
11	94180096	G	C	G94180096C	PANX1	NM_015368.4(PANX1):c.1040G>C:p.Cys347Ser	coding	Pathogenic
11	94180230	C	T	C94180230T	PANX1	NM_015368.4(PANX1):c.1174C>T:p.Gln392Ter	coding	Pathogenic
11	94180243	C	T	C94180243T	PANX1	NM_015368.4(PANX1):c.1187C>T:p.Thr396Met	coding	Benign
11	94380767	G	T	G94380767T	GPR83	NM_016540.4(GPR83):c.654C>A:p.Asp218Glu	coding	Benign
11	94417426	T	A	T94417426A	MRE11	NM_005591.3(MRE11):c.*2699A>T	noncoding	Benign
11	94417463	T	C	T94417463C	MRE11	NM_005591.3(MRE11):c.*2662A>G	noncoding	Benign
11	94417624	T	C	T94417624C	MRE11	NM_005591.3(MRE11):c.*2501A>G	noncoding	Benign
11	94417659	A	G	A94417659G	MRE11	NM_005591.4(MRE11):c.*2466T>C	noncoding	Benign
11	94418058	T	C	T94418058C	MRE11	NM_005591.3(MRE11):c.*2067A>G	noncoding	Benign
11	94418072	A	G	A94418072G	MRE11	NM_005591.4(MRE11):c.*2053T>C	noncoding	Benign
11	94418359	C	G	C94418359G	MRE11	NM_005591.3(MRE11):c.*1766G>C	noncoding	Benign
11	94419042	A	G	A94419042G	MRE11	NM_005591.3(MRE11):c.*1083T>C	noncoding	Benign
11	94419614	C	T	C94419614T	MRE11	NM_005591.3(MRE11):c.*511G>A	noncoding	Benign
11	94419683	T	C	T94419683C	MRE11	NM_005591.3(MRE11):c.*442A>G	noncoding	Benign
11	94419942	C	T	C94419942T	MRE11	NM_005591.3(MRE11):c.*183G>A	noncoding	Benign
11	94420160	T	C	T94420160C	MRE11	NM_005591.3(MRE11):c.2092A>G:p.Met698Val	coding	Benign
11	94420234	C	A	C94420234A	MRE11	NM_005591.3(MRE11):c.2071-53G>T	noncoding	Benign
11	94429929	A	G	A94429929G	MRE11	NM_005591.3(MRE11):c.2052T>C:p.Val684=	coding	Benign/Likely_benign
11	94435822	C	T	C94435822T	MRE11	NM_005591.3(MRE11):c.1994+10G>A	noncoding	Benign
11	94437206	G	A	G94437206A	MRE11	NM_005591.4(MRE11):c.1897C>T:p.Arg633Ter	coding	Pathogenic
11	94437218	G	A	G94437218A	MRE11	NM_005591.4(MRE11):c.1885C>T:p.Gln629Ter	coding	Pathogenic
11	94437221	T	A	T94437221A	MRE11	NM_005591.4(MRE11):c.1882A>T:p.Arg628Ter	coding	Pathogenic
11	94447214	C	G	C94447214G	MRE11	NM_005591.3(MRE11):c.1783+5G>C	noncoding	Benign/Likely_benign
11	94447222	T	C	T94447222C	MRE11	NM_005591.3(MRE11):c.1780A>G:p.Arg594Gly	coding	Benign/Likely_benign
11	94447231	G	A	G94447231A	MRE11	NM_005591.3(MRE11):c.1771C>T:p.Gln591Ter	coding	Pathogenic
11	94447276	G	A	G94447276A	MRE11	NM_005590.4(MRE11):c.1726C>T:p.Arg576Ter	coding	Pathogenic
11	94447288	G	A	G94447288A	MRE11	NM_005591.4(MRE11):c.1714C>T:p.Arg572Ter	coding	Pathogenic/Likely_pathogenic
11	94447399	C	A	C94447399A	MRE11	NM_005591.4(MRE11):c.1603G>T:p.Glu535Ter	coding	Pathogenic
11	94459461	G	A	G94459461A	MRE11	NM_005591.3(MRE11):c.1447C>T:p.Arg483Ter	coding	Pathogenic
11	94459466	G	T	G94459466T	MRE11	NM_005591.4(MRE11):c.1442C>A:p.Thr481Lys	coding	Pathogenic
11	94459494	C	A	C94459494A	MRE11	NM_005591.3(MRE11):c.1414G>T:p.Glu472Ter	coding	Pathogenic
11	94464094	A	G	A94464094G	MRE11	NM_005591.3(MRE11):c.1225+19T>C	noncoding	Benign
11	94464128	G	A	G94464128A	MRE11	NM_005591.4(MRE11):c.1210C>T:p.Gln404Ter	coding	Pathogenic
11	94467796	A	G	A94467796G	MRE11	NM_005591.3(MRE11):c.1098+17T>C	noncoding	Benign
11	94467821	G	A	G94467821A	MRE11	NM_005591.3(MRE11):c.1090C>T:p.Arg364Ter	coding	Pathogenic
11	94467879	A	C	A94467879C	MRE11	NM_005591.3(MRE11):c.1032T>G:p.Leu344=	coding	Benign
11	94470473	T	A	T94470473A	MRE11	NM_005591.3(MRE11):c.1015A>T:p.Lys339Ter	coding	Pathogenic/Likely_pathogenic
11	94470486	G	C	G94470486C	MRE11	NM_005591.3(MRE11):c.1002C>G:p.Ser334Arg	coding	Benign
11	94470519	T	C	T94470519C	MRE11	NM_005591.3(MRE11):c.969A>G:p.Pro323=	coding	Benign/Likely_benign
11	94471563	A	G	A94471563G	MRE11	NM_005591.3(MRE11):c.845+11T>C	noncoding	Benign/Likely_benign
11	94471572	A	T	A94471572T	MRE11	NM_005591.3(MRE11):c.845+2T>A	noncoding	Pathogenic/Likely_pathogenic
11	94471613	G	C	G94471613C	MRE11	NM_005591.3(MRE11):c.806C>G:p.Ser269Ter	coding	Pathogenic
11	94471644	G	A	G94471644A	MRE11	NM_005591.4(MRE11):c.775C>T:p.Gln259Ter	coding	Pathogenic
11	94471648	T	C	T94471648C	MRE11	NM_005591.3(MRE11):c.771A>G:p.Glu257=	coding	Benign/Likely_benign
11	94471755	T	A	T94471755A	MRE11	NM_005591.3(MRE11):c.664A>T:p.Lys222Ter	coding	Pathogenic
11	94476288	C	T	C94476288T	MRE11	NM_005591.3(MRE11):c.659+1G>A	noncoding	Pathogenic/Likely_pathogenic
11	94476296	G	A	G94476296A	MRE11	NM_005591.4(MRE11):c.652C>T:p.Gln218Ter	coding	Pathogenic
11	94476318	C	G	C94476318G	MRE11	NM_005591.4(MRE11):c.630G>C:p.Trp210Cys	coding	Pathogenic
11	94476377	G	A	G94476377A	MRE11	NM_005591.4(MRE11):c.571C>T:p.Arg191Ter	coding	Pathogenic
11	94478771	G	A	G94478771A	MRE11	NM_005591.3(MRE11):c.508C>T:p.Gln170Ter	coding	Pathogenic
11	94478882	C	T	C94478882T	MRE11	NM_005591.4(MRE11):c.403-6G>A	noncoding	Benign
11	94486068	A	C	A94486068C	MRE11	NM_005591.3(MRE11):c.170T>G:p.Leu57Ter	coding	Pathogenic
11	94490865	C	T	C94490865T	MRE11	NM_005591.3(MRE11):c.121G>A:p.Asp41Asn	coding	Benign/Likely_benign
11	94490905	C	T	C94490905T	MRE11	NM_005591.3(MRE11):c.81G>A:p.Glu27=	coding	Benign/Likely_benign
11	94490949	A	T	A94490949T	MRE11	NM_005591.3(MRE11):c.37T>A:p.Phe13Ile	coding	Benign/Likely_benign
11	94492754	C	T	C94492754T	MRE11	NM_005591.3(MRE11):c.20+28G>A	noncoding	Benign
11	94493786	C	T	C94493786T	MRE11	NM_005591.3(MRE11):c.-106+5G>A	noncoding	Benign
11	94493863	C	T	C94493863T	MRE11	NM_005591.3(MRE11):c.-178G>A	noncoding	Benign
11	94498091	C	G	C94498091G	MRE11	NM_017704.3(ANKRD49):c.279C>G:p.Leu93=	coding	Benign
11	94544295	A	C	A94544295C	FUT4	NM_002033.3(FUT4):c.162A>C:p.Pro54=	coding	Benign
11	94544926	C	A	C94544926A	FUT4	NM_002033.3(FUT4):c.793C>A:p.Leu265Met	coding	Benign
11	94585514	T	A	T94585514A	PIWIL4	NM_152431.3(PIWIL4):c.705T>A:p.Ile235=	coding	Benign
11	94587134	C	T	C94587134T	PIWIL4	NM_152431.3(PIWIL4):c.801C>T:p.Val267=	coding	Benign
11	94593554	A	G	A94593554G	PIWIL4	NM_152431.3(PIWIL4):c.1063A>G:p.Met355Val	coding	Benign
11	94597800	A	G	A94597800G	PIWIL4	NM_152431.3(PIWIL4):c.1269-4A>G	noncoding	Benign
11	94607562	A	G	A94607562G	PIWIL4	NM_152431.3(PIWIL4):c.1762A>G:p.Met588Val	coding	Benign
11	94799904	T	C	T94799904C	AMOTL1	NM_130847.3(AMOTL1):c.714T>C:p.Arg238=	coding	Benign
11	94800030	C	T	C94800030T	AMOTL1	NM_130847.3(AMOTL1):c.840C>T:p.Pro280=	coding	Benign
11	94850220	G	A	G94850220A	AMOTL1	NM_130847.3(AMOTL1):c.1755G>A:p.Leu585=	coding	Benign
11	94859536	T	C	T94859536C	AMOTL1	NM_130847.3(AMOTL1):c.1956T>C:p.Asn652=	coding	Benign
11	94869292	G	A	G94869292A	AMOTL1	NM_130847.3(AMOTL1):c.2583G>A:p.Thr861=	coding	Benign
11	94870735	C	G	C94870735G	AMOTL1	NM_130847.3(AMOTL1):c.2811C>G:p.Val937=	coding	Benign
11	94998437	C	G	C94998437G	KDM4D	NM_018039.3(KDM4D):c.1065C>G:p.Ser355Arg	coding	Benign
11	94998783	G	T	G94998783T	KDM4D	NM_018039.3(KDM4D):c.1411G>T:p.Ala471Ser	coding	Benign
11	95025682	A	G	A95025682G	KDM4E	NM_001161630.1(KDM4E):c.125A>G:p.Gln42Arg	coding	Benign
11	95177769	G	A	G95177769A	SESN3	NM_144665.4(SESN3):c.1197C>T:p.Thr399=	coding	Benign
11	95191611	A	C	A95191611C	SESN3	NM_144665.4(SESN3):c.145-10T>G	noncoding	Benign
11	95812970	C	T	C95812970T	CEP57	NM_014679.5(CEP57):c.241C>T:p.Arg81Ter	coding	Pathogenic
11	95813062	G	C	G95813062C	CEP57	NM_014679.5(CEP57):c.333G>C:p.Gln111His	coding	Benign
11	95813113	T	C	T95813113C	CEP57	NM_014679.5(CEP57):c.382+2T>C	noncoding	Pathogenic
11	95813536	C	T	C95813536T	CEP57	NM_014679.5(CEP57):c.451C>T:p.Arg151Ter	coding	Pathogenic
11	95821924	G	A	G95821924A	CEP57	NM_014679.5(CEP57):c.753G>A:p.Pro251=	coding	Benign
11	95821949	A	T	A95821949T	CEP57	NM_014679.5(CEP57):c.778A>T:p.Lys260Ter	coding	Pathogenic
11	95821969	A	G	A95821969G	CEP57	NM_014679.5(CEP57):c.798A>G:p.Pro266=	coding	Benign
11	95821981	G	A	G95821981A	CEP57	NM_014679.5(CEP57):c.807+3G>A	noncoding	Benign
11	95821986	G	A	G95821986A	CEP57	NM_014679.5(CEP57):c.807+8G>A	noncoding	Benign
11	95827879	A	G	A95827879G	CEP57	NM_014679.5(CEP57):c.979A>G:p.Ile327Val	coding	Benign
11	95827936	T	C	T95827936C	CEP57	NM_014679.5(CEP57):c.1036T>C:p.Leu346=	coding	Benign
11	95831095	A	G	A95831095G	CEP57	NM_014679.5(CEP57):c.1342A>G:p.Arg448Gly	coding	Benign
11	95832884	G	A	G95832884A	MTMR2	NM_016156.5(MTMR2):c.*2406C>T	noncoding	Benign
11	95833276	A	C	A95833276C	MTMR2	NM_016156.5(MTMR2):c.*2014T>G	noncoding	Benign
11	95833338	C	T	C95833338T	MTMR2	NM_016156.5(MTMR2):c.*1952G>A	noncoding	Benign
11	95833356	A	G	A95833356G	MTMR2	NM_016156.5(MTMR2):c.*1934T>C	noncoding	Benign
11	95833722	G	A	G95833722A	MTMR2	NM_016156.5(MTMR2):c.*1568C>T	noncoding	Benign
11	95833846	G	C	G95833846C	MTMR2	NM_016156.5(MTMR2):c.*1444C>G	noncoding	Benign
11	95833871	C	T	C95833871T	MTMR2	NM_016156.5(MTMR2):c.*1419G>A	noncoding	Benign
11	95833894	G	A	G95833894A	MTMR2	NM_016156.5(MTMR2):c.*1396C>T	noncoding	Benign
11	95834224	A	G	A95834224G	MTMR2	NM_016156.5(MTMR2):c.*1066T>C	noncoding	Benign
11	95834303	A	G	A95834303G	MTMR2	NM_016156.5(MTMR2):c.*987T>C	noncoding	Benign
11	95834741	C	T	C95834741T	MTMR2	NM_016156.5(MTMR2):c.*549G>A	noncoding	Benign
11	95835205	T	G	T95835205G	MTMR2	NM_016156.5(MTMR2):c.*85A>C	noncoding	Benign
11	95835417	G	C	G95835417C	MTMR2	NM_016156.5(MTMR2):c.1805C>G:p.Ala602Gly	coding	Benign/Likely_benign
11	95835593	C	A	C95835593A	MTMR2	NM_016156.5(MTMR2):c.1771-142G>T	noncoding	Benign
11	95836019	G	A	G95836019A	MTMR2	NM_016156.5(MTMR2):c.1770+129C>T	noncoding	Benign
11	95836089	A	C	A95836089C	MTMR2	NM_016156.5(MTMR2):c.1770+59T>G	noncoding	Benign
11	95836150	G	A	G95836150A	MTMR2	NM_016156.5(MTMR2):c.1768C>T:p.Gln590Ter	coding	Pathogenic
11	95836162	G	T	G95836162T	MTMR2	NM_016156.5(MTMR2):c.1756C>A:p.Arg586=	coding	Benign
11	95836284	T	C	T95836284C	MTMR2	NM_016156.5(MTMR2):c.1634A>G:p.Asn545Ser	coding	Benign/Likely_benign
11	95837797	G	A	G95837797A	MTMR2	NM_016156.5(MTMR2):c.1593+297C>T	noncoding	Benign
11	95838096	C	A	C95838096A	MTMR2	NM_016156.6(MTMR2):c.1591G>T:p.Glu531Ter	coding	Pathogenic
11	95838183	C	G	C95838183G	MTMR2	NM_001243571.2(MTMR2):c.1288G>C:p.Glu430Gln	coding	Benign
11	95838199	G	A	G95838199A	MTMR2	NM_016156.5(MTMR2):c.1488C>T:p.Thr496=	coding	Benign/Likely_benign
11	95841616	C	T	C95841616T	MTMR2	NM_016156.5(MTMR2):c.1479+1G>A	noncoding	Pathogenic
11	95841652	G	A	G95841652A	MTMR2	NM_016156.5(MTMR2):c.1444C>T:p.Gln482Ter	coding	Pathogenic
11	95844765	T	C	T95844765C	MTMR2	NM_016156.5(MTMR2):c.1386+188A>G	noncoding	Benign
11	95845063	G	A	G95845063A	MTMR2	NM_016156.5(MTMR2):c.1276C>T:p.Gln426Ter	coding	Pathogenic
11	95845106	C	A	C95845106A	MTMR2	NM_016156.6(MTMR2):c.1233G>T:p.Thr411=	coding	Benign
11	95845106	C	T	C95845106T	MTMR2	NM_016156.5(MTMR2):c.1233G>A:p.Thr411=	coding	Benign
11	95847729	C	T	C95847729T	MTMR2	NM_016156.5(MTMR2):c.1164G>A:p.Trp388Ter	coding	Pathogenic
11	95847762	G	A	G95847762A	MTMR2	NM_001243571.2(MTMR2):c.915C>T:p.Thr305=	coding	Benign
11	95847803	G	A	G95847803A	MTMR2	NM_016156.6(MTMR2):c.1090C>T:p.Arg364Ter	coding	Pathogenic
11	95849784	G	A	G95849784A	MTMR2	NM_016156.6(MTMR2):c.883C>T:p.Arg295Ter	coding	Pathogenic
11	95849835	G	A	G95849835A	MTMR2	NM_016156.5(MTMR2):c.832C>T:p.Gln278Ter	coding	Pathogenic
11	95849841	C	A	C95849841A	MTMR2	NM_016156.5(MTMR2):c.826G>T:p.Glu276Ter	coding	Pathogenic
11	95850831	A	G	A95850831G	MTMR2	NM_016156.5(MTMR2):c.655-82T>C	noncoding	Benign
11	95858520	A	G	A95858520G	MTMR2	NM_001243571.2(MTMR2):c.354+11T>C	noncoding	Benign/Likely_benign
11	95862030	G	A	G95862030A	MTMR2	NM_016156.6(MTMR2):c.430C>T:p.Arg144Ter	coding	Pathogenic
11	95862331	C	T	C95862331T	MTMR2	NM_016156.6(MTMR2):c.298G>A:p.Ala100Thr	coding	Benign
11	95862530	T	C	T95862530C	MTMR2	NM_016156.5(MTMR2):c.263-164A>G	noncoding	Benign
11	95865465	A	G	A95865465G	MTMR2	NM_016156.5(MTMR2):c.262+136T>C	noncoding	Benign
11	95865623	T	G	T95865623G	MTMR2	NM_016156.5(MTMR2):c.240A>C:p.Pro80=	coding	Benign/Likely_benign
11	95888137	T	A	T95888137A	MTMR2	NM_016156.6(MTMR2):c.186+19A>T	noncoding	Benign
11	95888212	C	T	C95888212T	MTMR2	NM_016156.5(MTMR2):c.130G>A:p.Val44Ile	coding	Benign
11	95923710	C	T	C95923710T	MTMR2	NM_016156.5(MTMR2):c.80+165G>A	noncoding	Benign
11	95923862	G	A	G95923862A	MTMR2	NM_001243571.2(MTMR2):c.-404+13C>T	noncoding	Benign
11	95923947	T	G	T95923947G	MTMR2	NM_016156.5(MTMR2):c.8A>C:p.Lys3Thr	coding	Benign
11	96092539	G	A	G96092539A	MAML2	NM_032427.4(MAML2):c.1492C>T:p.Pro498Ser	coding	Benign
11	96384426	T	C	T96384426C	CCDC82	NM_024725.4(CCDC82):c.322A>G:p.Thr108Ala	coding	Benign
11	99819697	T	G	T99819697G	CNTN5	NM_014361.4(CNTN5):c.209T>G:p.Leu70Arg	coding	Benign
11	99845159	T	G	T99845159G	CNTN5	NM_014361.4(CNTN5):c.474T>G:p.Ile158Met	coding	Benign
11	100061278	A	T	A100061278T	CNTN5	NM_014361.4(CNTN5):c.1047A>T:p.Lys349Asn	coding	Benign/Likely_benign
11	100061356	T	A	T100061356A	CNTN5	NM_014361.4(CNTN5):c.1125T>A:p.Arg375=	coding	Benign
11	100070542	A	G	A100070542G	CNTN5	NM_014361.4(CNTN5):c.1281A>G:p.Gly427=	coding	Benign
11	100299191	A	C	A100299191C	CNTN5	NM_014361.4(CNTN5):c.2415A>C:p.Glu805Asp	coding	Benign
11	100350865	A	T	A100350865T	CNTN5	NM_014361.4(CNTN5):c.3194A>T:p.Tyr1065Phe	coding	Benign
11	100356169	G	A	G100356169A	CNTN5	NM_014361.4(CNTN5):c.3252G>A:p.Ser1084=	coding	Benign
11	100356187	C	A	C100356187A	CNTN5	NM_014361.4(CNTN5):c.3270C>A:p.Leu1090=	coding	Benign
11	100356197	A	G	A100356197G	CNTN5	NM_014361.4(CNTN5):c.3280A>G:p.Met1094Val	coding	Benign
11	101041987	C	T	C101041987T	PGR	NM_000926.4(PGR):c.2604G>A:p.Gln868=	coding	Benign
11	101062676	G	A	G101062676A	PGR	NM_000926.4(PGR):c.1983C>T:p.Gly661=	coding	Benign
11	101062708	G	C	G101062708C	PGR	NM_000926.4(PGR):c.1951C>G:p.Leu651Val	coding	Benign
11	101091797	G	T	G101091797T	PGR	NM_000926.4(PGR):c.1869C>A:p.Arg623=	coding	Benign
11	101125999	G	A	G101125999A	PGR	NM_000926.4(PGR):c.1789+8C>T	noncoding	Benign
11	101127464	T	G	T101127464G	PGR	NM_000926.4(PGR):c.1607A>C:p.Gln536Pro	coding	Benign
11	101128031	C	G	C101128031G	PGR	NM_000926.4(PGR):c.1040G>C:p.Cys347Ser	coding	Benign
11	101128282	T	C	T101128282C	PGR	NM_000926.4(PGR):c.789A>G:p.Gly263=	coding	Benign
11	101128459	G	A	G101128459A	PGR	NM_000926.4(PGR):c.612C>T:p.His204=	coding	Benign
11	101128510	C	T	C101128510T	PGR	NM_000926.4(PGR):c.561G>A:p.Arg187=	coding	Benign
11	101128522	T	C	T101128522C	PGR	NM_000926.4(PGR):c.549A>G:p.Lys183=	coding	Benign
11	101128712	G	A	G101128712A	PGR	NM_000926.4(PGR):c.359C>T:p.Ala120Val	coding	Benign
11	101128915	A	T	A101128915T	PGR	NM_000926.4(PGR):c.156T>A:p.Pro52=	coding	Benign
11	101128919	A	G	A101128919G	PGR	NM_000926.4(PGR):c.152T>C:p.Ile51Thr	coding	Benign
11	101128924	C	T	C101128924T	PGR	NM_000926.4(PGR):c.147G>A:p.Ser49=	coding	Benign
11	101451866	G	A	G101451866A	TRPC6	NM_004621.6(TRPC6):c.*1089C>T	noncoding	Benign
11	101451985	T	C	T101451985C	TRPC6	NM_004621.6(TRPC6):c.*970A>G	noncoding	Benign
11	101452402	A	C	A101452402C	TRPC6	NM_004621.6(TRPC6):c.*553T>G	noncoding	Benign
11	101452425	A	G	A101452425G	TRPC6	NM_004621.6(TRPC6):c.*530T>C	noncoding	Benign
11	101452618	C	T	C101452618T	TRPC6	NM_004621.6(TRPC6):c.*337G>A	noncoding	Benign
11	101452619	G	A	G101452619A	TRPC6	NM_004621.6(TRPC6):c.*336C>T	noncoding	Benign
11	101452641	G	C	G101452641C	TRPC6	NM_004621.6(TRPC6):c.*314C>G	noncoding	Benign
11	101452737	G	A	G101452737A	TRPC6	NM_004621.6(TRPC6):c.*218C>T	noncoding	Benign
11	101452915	A	C	A101452915C	TRPC6	NM_004621.6(TRPC6):c.*40T>G	noncoding	Benign
11	101452942	G	A	G101452942A	TRPC6	NM_004621.6(TRPC6):c.*13C>T	noncoding	Benign
11	101452946	G	A	G101452946A	TRPC6	NM_004621.6(TRPC6):c.*9C>T	noncoding	Benign
11	101452981	G	A	G101452981A	TRPC6	NM_004621.6(TRPC6):c.2770C>T:p.Pro924Ser	coding	Benign
11	101453039	C	T	C101453039T	TRPC6	NM_004621.6(TRPC6):c.2712G>A:p.Gln904=	coding	Benign
11	101453062	C	T	C101453062T	TRPC6	NM_004621.6(TRPC6):c.2689G>A:p.Glu897Lys	coding	Pathogenic
11	101453068	G	A	G101453068A	TRPC6	NM_004621.6(TRPC6):c.2683C>T:p.Arg895Cys	coding	Pathogenic
11	101453674	T	A	T101453674A	TRPC6	NM_004621.6(TRPC6):c.2620A>T:p.Lys874Ter	coding	Pathogenic
11	101455057	G	A	G101455057A	TRPC6	NM_004621.6(TRPC6):c.2529C>T:p.Phe843=	coding	Benign
11	101471200	C	G	C101471200G	TRPC6	NM_004621.6(TRPC6):c.2392G>C:p.Asp798His	coding	Benign
11	101471293	C	T	C101471293T	TRPC6	NM_004621.6(TRPC6):c.2299G>A:p.Val767Met	coding	Benign
11	101472200	C	A	C101472200A	TRPC6	NM_004621.6(TRPC6):c.2142G>T:p.Thr714=	coding	Benign
11	101472200	C	T	C101472200T	TRPC6	NM_004621.6(TRPC6):c.2142G>A:p.Thr714=	coding	Benign/Likely_benign
11	101472227	G	A	G101472227A	TRPC6	NM_004621.6(TRPC6):c.2115C>T:p.Tyr705=	coding	Benign
11	101472254	G	A	G101472254A	TRPC6	NM_004621.6(TRPC6):c.2088C>T:p.Asn696=	coding	Benign
11	101473700	A	G	A101473700G	TRPC6	NM_004621.6(TRPC6):c.1818T>C:p.Ser606=	coding	Benign/Likely_benign
11	101473738	T	C	T101473738C	TRPC6	NM_004621.6(TRPC6):c.1780A>G:p.Ile594Val	coding	Benign
11	101476362	A	G	A101476362G	TRPC6	NM_004621.6(TRPC6):c.1683T>C:p.Asn561=	coding	Benign
11	101476368	G	A	G101476368A	TRPC6	NM_004621.6(TRPC6):c.1677C>T:p.Asp559=	coding	Benign
11	101483121	G	A	G101483121A	TRPC6	NM_004621.6(TRPC6):c.1338C>T:p.His446=	coding	Benign
11	101483169	C	T	C101483169T	TRPC6	NM_004621.6(TRPC6):c.1294-4G>A	noncoding	Benign
11	101488970	C	T	C101488970T	TRPC6	NM_004621.6(TRPC6):c.1260G>A:p.Leu420=	coding	Benign
11	101489019	G	A	G101489019A	TRPC6	NM_004621.6(TRPC6):c.1211C>T:p.Ala404Val	coding	Benign
11	101504081	C	T	C101504081T	TRPC6	NM_004621.6(TRPC6):c.888G>A:p.Thr296=	coding	Benign/Likely_benign
11	101504132	G	A	G101504132A	TRPC6	NM_004621.6(TRPC6):c.837C>T:p.Gly279=	coding	Benign
11	101504161	A	T	A101504161T	TRPC6	NM_004621.6(TRPC6):c.808T>A:p.Ser270Thr	coding	Pathogenic
11	101504634	G	T	G101504634T	TRPC6	NM_004621.6(TRPC6):c.335C>A:p.Pro112Gln	coding	Pathogenic
11	101504797	G	A	G101504797A	TRPC6	NM_004621.6(TRPC6):c.172C>T:p.Arg58Trp	coding	Benign/Likely_benign
11	101504818	T	C	T101504818C	TRPC6	NM_004621.6(TRPC6):c.171-20A>G	noncoding	Benign
11	101583429	G	A	G101583429A	TRPC6	NM_004621.6(TRPC6):c.75C>T:p.Arg25=	coding	Benign/Likely_benign
11	101583461	G	A	G101583461A	TRPC6	NM_004621.6(TRPC6):c.43C>T:p.Pro15Ser	coding	Benign
11	101583513	G	T	G101583513T	TRPC6	NM_004621.6(TRPC6):c.-10C>A	noncoding	Benign
11	101583721	G	A	G101583721A	TRPC6	NM_004621.6(TRPC6):c.-218C>T	noncoding	Benign
11	101583757	G	C	G101583757C	TRPC6	NM_004621.6(TRPC6):c.-254C>G	noncoding	Benign
11	101583855	G	C	G101583855C	TRPC6	NM_004621.6(TRPC6):c.-352C>G	noncoding	Benign
11	101583864	T	A	T101583864A	TRPC6	NM_004621.6(TRPC6):c.-361A>T	noncoding	Benign
11	101905796	A	G	A101905796G	ANGPTL5	NM_178127.5(ANGPTL5):c.293T>C:p.Leu98Pro	coding	Benign
11	101944258	A	C	A101944258C	CEP126	NM_020802.4(CEP126):c.249-7A>C	noncoding	Benign
11	101948072	C	G	C101948072G	CEP126	NM_020802.4(CEP126):c.436C>G:p.Gln146Glu	coding	Benign
11	101958193	G	A	G101958193A	CEP126	NM_020802.4(CEP126):c.532G>A:p.Ala178Thr	coding	Benign
11	101958339	C	T	C101958339T	CEP126	NM_020802.4(CEP126):c.678C>T:p.Leu226=	coding	Benign
11	101961958	A	T	A101961958T	CEP126	NM_020802.4(CEP126):c.923A>T:p.His308Leu	coding	Benign
11	101962149	T	C	T101962149C	CEP126	NM_020802.4(CEP126):c.1114T>C:p.Ser372Pro	coding	Benign
11	101963163	C	T	C101963163T	CEP126	NM_020802.4(CEP126):c.2128C>T:p.Pro710Ser	coding	Benign
11	101963339	C	G	C101963339G	CEP126	NM_020802.4(CEP126):c.2304C>G:p.Gly768=	coding	Benign
11	101986859	T	C	T101986859C	CEP126	NM_020802.4(CEP126):c.3062T>C:p.Met1021Thr	coding	Benign
11	102047858	C	T	C102047858T	CFAP300	NM_032930.3(CFAP300):c.154C>T:p.Gln52Ter	coding	Pathogenic
11	102066577	C	T	C102066577T	CFAP300	NM_032930.3(CFAP300):c.361C>T:p.Arg121Ter	coding	Pathogenic
11	102066649	A	T	A102066649T	CFAP300	NM_032930.3(CFAP300):c.433A>T:p.Arg145Ter	coding	Pathogenic
11	102083171	A	G	A102083171G	CFAP300	NM_032930.3(CFAP300):c.776A>G:p.His259Arg	coding	Pathogenic
11	102110869	G	A	G102110869A	YAP1	NM_001130145.3(YAP1):c.21G>A:p.Pro7=	coding	Benign
11	102114192	C	T	C102114192T	YAP1	NM_001130145.3(YAP1):c.370C>T:p.Arg124Ter	coding	Pathogenic
11	102114287	C	G	C102114287G	YAP1	NM_001130145.3(YAP1):c.465C>G:p.Pro155=	coding	Benign
11	102205986	A	G	A102205986G	YAP1	NM_001130145.3(YAP1):c.896A>G:p.Asn299Ser	coding	Benign
11	102206084	C	T	C102206084T	YAP1	NM_001130145.3(YAP1):c.984+10C>T	coding	Benign
11	102223655	G	T	G102223655T	YAP1	NM_001130145.3(YAP1):c.1066G>T:p.Glu356Ter	coding	Pathogenic
11	102223693	C	T	C102223693T	YAP1	NM_001130145.3(YAP1):c.1104C>T:p.Pro368=	coding	Benign
11	102229698	C	T	C102229698T	YAP1	NM_001130145.3(YAP1):c.1277-4C>T	noncoding	Benign
11	102324770	A	G	A102324770G	BIRC3	NM_001165.5(BIRC3):c.261A>G:p.Lys87=	coding	Benign
11	102336950	A	C	A102336950C	BIRC3	NM_001165.5(BIRC3):c.1663A>C:p.Arg555=	coding	Benign
11	102523293	G	A	G102523293A	MMP7	NM_002423.5(MMP7):c.722C>T:p.Pro241Leu	coding	Benign
11	102527669	G	A	G102527669A	MMP7	NM_002423.5(MMP7):c.339C>T:p.Ile113=	coding	Benign
11	102527807	G	A	G102527807A	MMP7	NM_002423.5(MMP7):c.285C>T:p.Tyr95=	coding	Benign
11	102527861	G	A	G102527861A	MMP7	NM_002423.5(MMP7):c.231C>T:p.Arg77=	coding	Benign
11	102527941	T	G	T102527941G	MMP7	NM_002423.5(MMP7):c.151A>C:p.Asn51His	coding	Benign
11	102577099	T	G	T102577099G	MMP20	NM_004771.4(MMP20):c.*227A>C	noncoding	Benign
11	102606646	G	T	G102606646T	MMP20	NM_004771.4(MMP20):c.842C>A:p.Thr281Asn	coding	Benign
11	102606664	A	G	A102606664G	MMP20	NM_004771.4(MMP20):c.824T>C:p.Val275Ala	coding	Benign
11	102608938	G	A	G102608938A	MMP20	NM_004771.4(MMP20):c.810C>T:p.Tyr270=	coding	Benign
11	102609070	A	T	A102609070T	MMP20	NM_004771.4(MMP20):c.678T>A:p.His226Gln	coding	Pathogenic
11	102609943	T	C	T102609943C	MMP20	NM_004771.4(MMP20):c.611A>G:p.His204Arg	coding	Pathogenic
11	102611773	T	G	T102611773G	MMP20	NM_004771.4(MMP20):c.505A>C:p.Ile169Leu	coding	Benign
11	102611863	C	T	C102611863T	MMP20	NM_004771.4(MMP20):c.415G>A:p.Asp139Asn	coding	Benign/Likely_benign
11	102625218	C	T	C102625218T	MMP20	NM_004771.4(MMP20):c.102G>A:p.Trp34Ter	coding	Pathogenic
11	102625267	T	G	T102625267G	MMP20	NM_004771.4(MMP20):c.53A>C:p.Lys18Thr	coding	Benign
11	102713365	T	C	T102713365C	MMP8	NM_002424.3(MMP8):c.1387A>G:p.Asn463Asp	coding	Benign
11	102713423	G	A	G102713423A	MMP8	NM_002424.3(MMP8):c.1329C>T:p.Tyr443=	coding	Benign
11	102715440	A	G	A102715440G	MMP8	NM_002424.3(MMP8):c.903-3T>C	noncoding	Benign
11	102715443	G	A	G102715443A	MMP8	NM_002424.3(MMP8):c.903-6C>T	noncoding	Benign
11	102721660	C	T	C102721660T	MMP8	NM_002424.3(MMP8):c.450G>A:p.Arg150=	coding	Benign
11	102721757	C	T	C102721757T	MMP8	NM_002424.3(MMP8):c.353G>A:p.Arg118Gln	coding	Benign
11	102722517	T	C	T102722517C	MMP8	NM_002424.3(MMP8):c.259A>G:p.Lys87Glu	coding	Benign
11	102722598	C	T	C102722598T	MMP8	NM_002424.3(MMP8):c.178G>A:p.Val60Ile	coding	Benign
11	102724761	G	A	G102724761A	MMP8	NM_002424.3(MMP8):c.95C>T:p.Thr32Ile	coding	Benign
11	102724778	T	C	T102724778C	MMP8	NM_002424.3(MMP8):c.78A>G:p.Lys26=	coding	Benign
11	102775306	T	C	T102775306C	MMP10	NM_002425.3(MMP10):c.948A>G:p.Arg316=	coding	Benign
11	102790704	A	G	A102790704G	MMP1	NM_002421.4(MMP1):c.1299T>C:p.Asp433=	coding	Benign
11	102791409	C	T	C102791409T	MMP1	NM_002421.4(MMP1):c.1120G>A:p.Val374Met	coding	Benign
11	102792751	A	T	A102792751T	MMP1	NM_002421.4(MMP1):c.900-13T>A	noncoding	Benign
11	102795242	C	T	C102795242T	MMP1	NM_002421.4(MMP1):c.831G>A:p.Ala277=	coding	Benign
11	102795585	T	C	T102795585C	MMP1	NM_002421.4(MMP1):c.648A>G:p.Ala216=	coding	Benign
11	102797291	C	T	C102797291T	MMP1	NM_002421.4(MMP1):c.315G>A:p.Gly105=	coding	Benign
11	102838649	G	A	G102838649A	MMP3	NM_002422.5(MMP3):c.1131C>T:p.His377=	coding	Benign
11	102838694	A	G	A102838694G	MMP3	NM_002422.5(MMP3):c.1086T>C:p.Ala362=	coding	Benign
11	102840185	C	A	C102840185A	MMP3	NM_002422.5(MMP3):c.858G>T:p.Thr286=	coding	Benign
11	102840251	T	C	T102840251C	MMP3	NM_002422.5(MMP3):c.792A>G:p.Gly264=	coding	Benign
11	102840607	T	C	T102840607C	MMP3	NM_002422.5(MMP3):c.626-14A>G	noncoding	Benign
11	102842716	G	C	G102842716C	MMP3	NM_002422.5(MMP3):c.306C>G:p.Thr102=	coding	Benign
11	102842734	A	G	A102842734G	MMP3	NM_002422.5(MMP3):c.288T>C:p.Asp96=	coding	Benign
11	102842773	A	G	A102842773G	MMP3	NM_002422.5(MMP3):c.249T>C:p.Thr83=	coding	Benign
11	102842794	C	T	C102842794T	MMP3	NM_002422.5(MMP3):c.228G>A:p.Thr76=	coding	Benign
11	102842889	T	C	T102842889C	MMP3	NM_002422.5(MMP3):c.133A>G:p.Lys45Glu	coding	Benign
11	102843489	A	G	A102843489G	MMP3	NM_002422.5(MMP3):c.58T>C:p.Leu20=	coding	Benign
11	102943381	T	C	T102943381C	MMP13	NM_002427.4(MMP13):c.*885A>G	noncoding	Benign
11	102943638	T	C	T102943638C	MMP13	NM_002427.4(MMP13):c.*628A>G	noncoding	Benign/Likely_benign
11	102943840	T	C	T102943840C	MMP13	NM_002427.4(MMP13):c.*426A>G	noncoding	Benign/Likely_benign
11	102943952	A	G	A102943952G	MMP13	NM_002427.4(MMP13):c.*314T>C	noncoding	Benign
11	102947933	T	C	T102947933C	MMP13	NM_002427.4(MMP13):c.1169A>G:p.Asp390Gly	coding	Benign/Likely_benign
11	102948022	A	G	A102948022G	MMP13	NM_002427.4(MMP13):c.1080T>C:p.Tyr360=	coding	Benign/Likely_benign
11	102950236	G	A	G102950236A	MMP13	NM_002427.4(MMP13):c.800-9C>T	noncoding	Benign
11	102952004	C	T	C102952004T	MMP13	NM_002427.4(MMP13):c.799+8G>A	noncoding	Benign
11	102952005	G	A	G102952005A	MMP13	NM_002427.4(MMP13):c.799+7C>T	noncoding	Benign/Likely_benign
11	102952070	G	A	G102952070A	MMP13	NM_002427.4(MMP13):c.741C>T:p.Thr247=	coding	Benign
11	102952117	G	T	G102952117T	MMP13	NM_002427.4(MMP13):c.694C>A:p.His232Asn	coding	Pathogenic
11	102954497	C	T	C102954497T	MMP13	NM_002427.4(MMP13):c.472G>A:p.Asp158Asn	coding	Benign/Likely_benign
11	102955289	G	A	G102955289A	MMP13	NM_002427.4(MMP13):c.325C>T:p.Arg109Ter	coding	Pathogenic
11	102955342	A	G	A102955342G	MMP13	NM_002427.4(MMP13):c.272T>C:p.Met91Thr	coding	Pathogenic
11	102955390	A	G	A102955390G	MMP13	NM_002427.4(MMP13):c.224T>C:p.Phe75Ser	coding	Pathogenic
11	102955393	A	G	A102955393G	MMP13	NM_002427.4(MMP13):c.221T>C:p.Phe74Ser	coding	Pathogenic
11	102955402	A	G	A102955402G	MMP13	NM_002427.4(MMP13):c.212T>C:p.Met71Thr	coding	Pathogenic
11	102955683	G	A	G102955683A	MMP13	NM_002427.4(MMP13):c.23C>T:p.Ala8Val	coding	Benign/Likely_benign
11	103109481	G	T	G103109481T	DYNC2H1	NM_001377.3(DYNC2H1):c.-94G>T	noncoding	Benign/Likely_benign
11	103109595	C	T	C103109595T	DYNC2H1	NM_001377.3(DYNC2H1):c.21C>T:p.Asp7=	coding	Benign/Likely_benign
11	103109601	G	T	G103109601T	DYNC2H1	NM_001377.3(DYNC2H1):c.27G>T:p.Arg9=	coding	Benign/Likely_benign
11	103109767	A	C	A103109767C	DYNC2H1	NM_001377.3(DYNC2H1):c.193A>C:p.Thr65Pro	coding	Pathogenic
11	103109769	G	T	G103109769T	DYNC2H1	NM_001377.3(DYNC2H1):c.195G>T:p.Thr65=	coding	Pathogenic
11	103109865	A	G	A103109865G	DYNC2H1	NM_001377.3(DYNC2H1):c.195+96A>G	noncoding	Benign
11	103113668	C	G	C103113668G	DYNC2H1	NM_001377.3(DYNC2H1):c.327C>G:p.Tyr109Ter	coding	Pathogenic
11	103113967	G	C	G103113967C	DYNC2H1	NM_001377.3(DYNC2H1):c.367-136G>C	noncoding	Benign
11	103114979	T	C	T103114979C	DYNC2H1	NM_001377.3(DYNC2H1):c.503-198T>C	noncoding	Benign
11	103115530	A	G	A103115530G	DYNC2H1	NM_001377.3(DYNC2H1):c.621+235A>G	noncoding	Benign
11	103116573	T	A	T103116573A	DYNC2H1	NM_001377.3(DYNC2H1):c.625T>A:p.Phe209Ile	coding	Pathogenic
11	103116593	A	G	A103116593G	DYNC2H1	NM_001377.3(DYNC2H1):c.645A>G:p.Leu215=	coding	Benign/Likely_benign
11	103116677	T	A	T103116677A	DYNC2H1	NM_001377.3(DYNC2H1):c.729T>A:p.Tyr243Ter	coding	Pathogenic
11	103117023	T	A	T103117023A	DYNC2H1	NM_001377.3(DYNC2H1):c.766+309T>A	noncoding	Benign
11	103117361	G	A	G103117361A	DYNC2H1	NM_001377.3(DYNC2H1):c.767-270G>A	noncoding	Benign
11	103117629	A	G	A103117629G	DYNC2H1	NM_001377.3(DYNC2H1):c.767-2A>G	noncoding	Pathogenic
11	103117775	A	T	A103117775T	DYNC2H1	NM_001377.3(DYNC2H1):c.911A>T:p.Gln304Leu	coding	Benign/Likely_benign
11	103117852	C	T	C103117852T	DYNC2H1	NM_001377.3(DYNC2H1):c.988C>T:p.Arg330Cys	coding	Pathogenic
11	103120468	C	T	C103120468T	DYNC2H1	NM_001377.3(DYNC2H1):c.1021C>T:p.His341Tyr	coding	Benign/Likely_benign
11	103120525	C	T	C103120525T	DYNC2H1	NM_001377.3(DYNC2H1):c.1078C>T:p.Arg360Ter	coding	Pathogenic
11	103120787	A	G	A103120787G	DYNC2H1	NM_001377.3(DYNC2H1):c.1233A>G:p.Gln411=	coding	Benign/Likely_benign
11	103120965	G	A	G103120965A	DYNC2H1	NM_001377.3(DYNC2H1):c.1289G>A:p.Arg430His	coding	Pathogenic
11	103120982	G	T	G103120982T	DYNC2H1	NM_001377.3(DYNC2H1):c.1306G>T:p.Glu436Ter	coding	Pathogenic
11	103121378	G	A	G103121378A	DYNC2H1	NM_001377.3(DYNC2H1):c.1367G>A:p.Arg456Gln	coding	Benign/Likely_benign
11	103123016	T	C	T103123016C	DYNC2H1	NM_001377.3(DYNC2H1):c.1661+16T>C	noncoding	Benign
11	103125197	C	T	C103125197T	DYNC2H1	NM_001377.3(DYNC2H1):c.1759C>T:p.Arg587Cys	coding	Pathogenic
11	103125293	C	T	C103125293T	DYNC2H1	NM_001377.3(DYNC2H1):c.1855C>T:p.Gln619Ter	coding	Pathogenic
11	103125513	G	A	G103125513A	DYNC2H1	NM_001377.3(DYNC2H1):c.1857+218G>A	noncoding	Benign
11	103129001	T	A	T103129001A	DYNC2H1	NM_001377.3(DYNC2H1):c.1949T>A:p.Ile650Asn	coding	Pathogenic
11	103129005	G	A	G103129005A	DYNC2H1	NM_001377.3(DYNC2H1):c.1953G>A:p.Lys651=	coding	Pathogenic
11	103129236	A	G	A103129236G	DYNC2H1	NM_001377.3(DYNC2H1):c.1953+231A>G	noncoding	Benign
11	103134200	C	G	C103134200G	DYNC2H1	NM_001377.3(DYNC2H1):c.2107-121C>G	noncoding	Benign
11	103135207	A	G	A103135207G	DYNC2H1	NM_001377.3(DYNC2H1):c.2206-288A>G	noncoding	Benign
11	103135514	T	G	T103135514G	DYNC2H1	NM_001377.3(DYNC2H1):c.2225T>G:p.Met742Arg	coding	Pathogenic
11	103135524	G	A	G103135524A	DYNC2H1	NM_001377.3(DYNC2H1):c.2235G>A:p.Trp745Ter	coding	Pathogenic
11	103135630	T	G	T103135630G	DYNC2H1	NM_001377.3(DYNC2H1):c.2341T>G:p.Tyr781Asp	coding	Pathogenic
11	103135828	G	A	G103135828A	DYNC2H1	NM_001377.3(DYNC2H1):c.2454G>A:p.Glu818=	coding	Benign/Likely_benign
11	103135949	G	A	G103135949A	DYNC2H1	NM_001377.3(DYNC2H1):c.2574+1G>A	coding	Pathogenic
11	103136061	T	C	T103136061C	DYNC2H1	NM_001377.3(DYNC2H1):c.2574+113T>C	noncoding	Benign
11	103143396	G	A	G103143396A	DYNC2H1	NM_001377.3(DYNC2H1):c.2702+1G>A	coding	Pathogenic
11	103147900	T	C	T103147900C	DYNC2H1	NM_001377.3(DYNC2H1):c.2818+13T>C	noncoding	Benign/Likely_benign
11	103148097	A	G	A103148097G	DYNC2H1	NM_001377.3(DYNC2H1):c.2818+210A>G	noncoding	Benign
11	103148531	G	A	G103148531A	DYNC2H1	NM_001377.3(DYNC2H1):c.2860G>A:p.Glu954Lys	coding	Benign/Likely_benign
11	103151951	A	T	A103151951T	DYNC2H1	NM_001377.3(DYNC2H1):c.2947-185A>T	noncoding	Benign
11	103152204	A	G	A103152204G	DYNC2H1	NM_001377.3(DYNC2H1):c.3015A>G:p.Leu1005=	coding	Benign/Likely_benign
11	103152248	T	G	T103152248G	DYNC2H1	NM_001377.3(DYNC2H1):c.3059T>G:p.Leu1020Ter	coding	Pathogenic
11	103152567	T	C	T103152567C	DYNC2H1	NM_001377.3(DYNC2H1):c.3096+282T>C	noncoding	Benign
11	103153006	A	T	A103153006T	DYNC2H1	NM_001377.3(DYNC2H1):c.3097-297A>T	noncoding	Benign
11	103153299	A	G	A103153299G	DYNC2H1	NM_001377.3(DYNC2H1):c.3097-4A>G	noncoding	Benign
11	103153760	G	T	G103153760T	DYNC2H1	NM_001377.3(DYNC2H1):c.3302+252G>T	noncoding	Benign
11	103154532	C	A	C103154532A	DYNC2H1	NM_001377.3(DYNC2H1):c.3384C>A:p.Ala1128=	coding	Benign
11	103154937	A	C	A103154937C	DYNC2H1	NM_001377.3(DYNC2H1):c.3573+128A>C	noncoding	Benign
11	103155476	T	C	T103155476C	DYNC2H1	NM_001377.3(DYNC2H1):c.3719T>C:p.Ile1240Thr	coding	Pathogenic
11	103155510	C	T	C103155510T	DYNC2H1	NM_001377.3(DYNC2H1):c.3744+9C>T	noncoding	Benign/Likely_benign
11	103156505	A	G	A103156505G	DYNC2H1	NM_001377.3(DYNC2H1):c.3862A>G:p.Thr1288Ala	coding	Benign/Likely_benign
11	103156711	C	T	C103156711T	DYNC2H1	NM_001377.3(DYNC2H1):c.4068C>T:p.Phe1356=	coding	Benign/Likely_benign
11	103158787	A	G	A103158787G	DYNC2H1	NM_001377.3(DYNC2H1):c.4238A>G:p.Lys1413Arg	coding	Benign
11	103158916	C	T	C103158916T	DYNC2H1	NM_001377.3(DYNC2H1):c.4267C>T:p.Arg1423Cys	coding	Pathogenic/Likely_pathogenic
11	103160971	T	C	T103160971C	DYNC2H1	NM_001377.3(DYNC2H1):c.4418T>C:p.Ile1473Thr	coding	Pathogenic
11	103163089	G	A	G103163089A	DYNC2H1	NM_001377.3(DYNC2H1):c.4553G>A:p.Cys1518Tyr	coding	Pathogenic
11	103163146	A	G	A103163146G	DYNC2H1	NM_001377.3(DYNC2H1):c.4610A>G:p.Gln1537Arg	coding	Pathogenic
11	103165985	C	G	C103165985G	DYNC2H1	NM_001377.3(DYNC2H1):c.4699C>G:p.Leu1567Val	coding	Pathogenic
11	103166005	A	G	A103166005G	DYNC2H1	NM_001377.3(DYNC2H1):c.4719A>G:p.Gln1573=	coding	Benign/Likely_benign
11	103166014	C	G	C103166014G	DYNC2H1	NM_001377.3(DYNC2H1):c.4728C>G:p.Asn1576Lys	coding	Benign
11	103166337	T	C	T103166337C	DYNC2H1	NM_001377.3(DYNC2H1):c.4762+289T>C	noncoding	Benign
11	103168804	C	T	C103168804T	DYNC2H1	NM_001377.3(DYNC2H1):c.4812C>T:p.Ile1604=	coding	Benign
11	103168812	T	A	T103168812A	DYNC2H1	NM_001377.3(DYNC2H1):c.4820T>A:p.Ile1607Asn	coding	Pathogenic
11	103168956	A	G	A103168956G	DYNC2H1	NM_001377.3(DYNC2H1):c.4964A>G:p.Tyr1655Cys	coding	Pathogenic
11	103168967	G	A	G103168967A	DYNC2H1	NM_001377.3(DYNC2H1):c.4968+7G>A	noncoding	Benign
11	103168978	G	A	G103168978A	DYNC2H1	NM_001377.3(DYNC2H1):c.4968+18G>A	noncoding	Benign
11	103170226	C	T	C103170226T	DYNC2H1	NM_001377.3(DYNC2H1):c.5087C>T:p.Thr1696Met	coding	Pathogenic
11	103170268	T	A	T103170268A	DYNC2H1	NM_001377.3(DYNC2H1):c.5129T>A:p.Val1710Asp	coding	Pathogenic
11	103170291	G	T	G103170291T	DYNC2H1	NM_001377.3(DYNC2H1):c.5151+1G>T	coding	Pathogenic
11	103170311	A	C	A103170311C	DYNC2H1	NM_001377.3(DYNC2H1):c.5151+21A>C	noncoding	Benign
11	103170468	T	C	T103170468C	DYNC2H1	NM_001377.3(DYNC2H1):c.5151+178T>C	noncoding	Benign
11	103172836	G	A	G103172836A	DYNC2H1	NM_001377.3(DYNC2H1):c.5335-246G>A	noncoding	Benign
11	103172870	G	A	G103172870A	DYNC2H1	NM_001377.3(DYNC2H1):c.5335-212G>A	noncoding	Benign
11	103173186	G	A	G103173186A	DYNC2H1	NM_001377.3(DYNC2H1):c.5439G>A:p.Arg1813=	coding	Benign
11	103173189	C	T	C103173189T	DYNC2H1	NM_001377.3(DYNC2H1):c.5442C>T:p.Pro1814=	coding	Benign
11	103173242	C	A	C103173242A	DYNC2H1	NM_001377.3(DYNC2H1):c.5495C>A:p.Ser1832Ter	coding	Pathogenic
11	103173307	T	C	T103173307C	DYNC2H1	NM_001377.3(DYNC2H1):c.5558+2T>C	noncoding	Pathogenic
11	103173309	A	G	A103173309G	DYNC2H1	NM_001377.3(DYNC2H1):c.5558+4A>G	noncoding	Benign/Likely_benign
11	103174049	T	C	T103174049C	DYNC2H1	NM_001377.3(DYNC2H1):c.5559-6T>C	noncoding	Benign
11	103176278	C	A	C103176278A	DYNC2H1	NM_001377.3(DYNC2H1):c.5718C>A:p.Thr1906=	coding	Benign
11	103176547	C	T	C103176547T	DYNC2H1	NM_001377.3(DYNC2H1):c.5874+113C>T	noncoding	Benign
11	103177330	C	G	C103177330G	DYNC2H1	NM_001377.3(DYNC2H1):c.5875-226C>G	noncoding	Benign
11	103177520	T	C	T103177520C	DYNC2H1	NM_001377.3(DYNC2H1):c.5875-36T>C	noncoding	Benign
11	103177557	T	A	T103177557A	DYNC2H1	NM_001377.3(DYNC2H1):c.5876T>A:p.Ile1959Asn	coding	Pathogenic
11	103177652	A	T	A103177652T	DYNC2H1	NM_001377.3(DYNC2H1):c.5971A>T:p.Met1991Leu	coding	Pathogenic
11	103177797	G	A	G103177797A	DYNC2H1	NM_001377.3(DYNC2H1):c.6116G>A:p.Arg2039His	coding	Pathogenic
11	103179045	C	T	C103179045T	DYNC2H1	NM_001377.3(DYNC2H1):c.6159C>T:p.Ile2053=	coding	Benign
11	103179047	G	C	G103179047C	DYNC2H1	NM_001377.3(DYNC2H1):c.6161G>C:p.Cys2054Ser	coding	Pathogenic
11	103179151	A	G	A103179151G	DYNC2H1	NM_001377.3(DYNC2H1):c.6265A>G:p.Asn2089Asp	coding	Pathogenic
11	103179157	A	G	A103179157G	DYNC2H1	NM_001377.3(DYNC2H1):c.6271A>G:p.Asn2091Asp	coding	Pathogenic
11	103179490	G	C	G103179490C	DYNC2H1	NM_001377.3(DYNC2H1):c.6347+257G>C	noncoding	Benign
11	103181471	T	G	T103181471G	DYNC2H1	NM_001377.3(DYNC2H1):c.6348-286T>G	noncoding	Benign
11	103181829	T	C	T103181829C	DYNC2H1	NM_001377.3(DYNC2H1):c.6420T>C:p.Asn2140=	coding	Benign
11	103181977	C	G	C103181977G	DYNC2H1	NM_001377.3(DYNC2H1):c.6477+91C>G	noncoding	Benign
11	103184607	A	T	A103184607T	DYNC2H1	NM_001377.3(DYNC2H1):c.6478-289A>T	noncoding	Benign
11	103184761	T	C	T103184761C	DYNC2H1	NM_001377.3(DYNC2H1):c.6478-135T>C	noncoding	Benign
11	103184879	C	T	C103184879T	DYNC2H1	NM_001377.3(DYNC2H1):c.6478-17C>T	noncoding	Benign
11	103184890	C	T	C103184890T	DYNC2H1	NM_001377.3(DYNC2H1):c.6478-6C>T	noncoding	Benign/Likely_benign
11	103184898	T	A	T103184898A	DYNC2H1	NM_001377.3(DYNC2H1):c.6480T>A:p.Asn2160Lys	coding	Pathogenic
11	103184963	G	A	G103184963A	DYNC2H1	NM_001377.3(DYNC2H1):c.6545G>A:p.Cys2182Tyr	coding	Pathogenic
11	103184980	T	C	T103184980C	DYNC2H1	NM_001377.3(DYNC2H1):c.6562T>C:p.Phe2188Leu	coding	Pathogenic
11	103184992	C	T	C103184992T	DYNC2H1	NM_001377.3(DYNC2H1):c.6574C>T:p.Leu2192Phe	coding	Pathogenic
11	103185951	T	C	T103185951C	DYNC2H1	NM_001377.3(DYNC2H1):c.6634-291T>C	noncoding	Benign
11	103186240	A	G	A103186240G	DYNC2H1	NM_001377.3(DYNC2H1):c.6634-2A>G	noncoding	Pathogenic
11	103186319	A	G	A103186319G	DYNC2H1	NM_001377.3(DYNC2H1):c.6711A>G:p.Arg2237=	coding	Benign
11	103186474	T	C	T103186474C	DYNC2H1	NM_001377.3(DYNC2H1):c.6866T>C:p.Leu2289Pro	coding	Pathogenic
11	103186491	T	C	T103186491C	DYNC2H1	NM_001377.3(DYNC2H1):c.6883T>C:p.Cys2295Arg	coding	Pathogenic
11	103186682	T	G	T103186682G	DYNC2H1	NM_001377.3(DYNC2H1):c.6893+181T>G	noncoding	Benign
11	103187205	T	C	T103187205C	DYNC2H1	NM_001377.3(DYNC2H1):c.6894-135T>C	noncoding	Benign
11	103187336	G	A	G103187336A	DYNC2H1	NM_001377.3(DYNC2H1):c.6894-4G>A	noncoding	Benign/Likely_benign
11	103187355	C	T	C103187355T	DYNC2H1	NM_001377.3(DYNC2H1):c.6909C>T:p.Tyr2303=	coding	Benign/Likely_benign
11	103187364	A	G	A103187364G	DYNC2H1	NM_001377.3(DYNC2H1):c.6918A>G:p.Ser2306=	coding	Benign/Likely_benign
11	103187397	C	T	C103187397T	DYNC2H1	NM_001377.3(DYNC2H1):c.6951C>T:p.His2317=	coding	Benign
11	103187558	C	T	C103187558T	DYNC2H1	NM_001377.3(DYNC2H1):c.7112C>T:p.Thr2371Ile	coding	Pathogenic
11	103187568	G	A	G103187568A	DYNC2H1	NM_001377.3(DYNC2H1):c.7122G>A:p.Leu2374=	coding	Benign/Likely_benign
11	103187574	A	G	A103187574G	DYNC2H1	NM_001377.3(DYNC2H1):c.7128A>G:p.Ala2376=	coding	Benign/Likely_benign
11	103187698	T	C	T103187698C	DYNC2H1	NM_001377.3(DYNC2H1):c.7140+112T>C	noncoding	Benign
11	103187813	G	A	G103187813A	DYNC2H1	NM_001377.3(DYNC2H1):c.7140+227G>A	noncoding	Benign
11	103188362	A	G	A103188362G	DYNC2H1	NM_001377.3(DYNC2H1):c.7141-135A>G	noncoding	Benign
11	103188368	T	C	T103188368C	DYNC2H1	NM_001377.3(DYNC2H1):c.7141-129T>C	noncoding	Benign
11	103188554	A	G	A103188554G	DYNC2H1	NM_001377.3(DYNC2H1):c.7198A>G:p.Ile2400Val	coding	Benign
11	103188624	C	A	C103188624A	DYNC2H1	NM_001377.3(DYNC2H1):c.7268C>A:p.Ser2423Tyr	coding	Pathogenic
11	103188633	G	T	G103188633T	DYNC2H1	NM_001377.3(DYNC2H1):c.7277G>T:p.Arg2426Leu	coding	Pathogenic
11	103189365	A	G	A103189365G	DYNC2H1	NM_001377.3(DYNC2H1):c.7293-307A>G	noncoding	Benign
11	103189698	C	T	C103189698T	DYNC2H1	NM_001377.3(DYNC2H1):c.7319C>T:p.Thr2440Met	coding	Benign/Likely_benign
11	103189761	G	T	G103189761T	DYNC2H1	NM_001377.3(DYNC2H1):c.7382G>T:p.Gly2461Val	coding	Pathogenic
11	103189942	A	C	A103189942C	DYNC2H1	NM_001377.3(DYNC2H1):c.7437+126A>C	noncoding	Benign
11	103191515	A	G	A103191515G	DYNC2H1	NM_001377.3(DYNC2H1):c.7438-2A>G	noncoding	Pathogenic
11	103191520	C	T	C103191520T	DYNC2H1	NM_001377.3(DYNC2H1):c.7441C>T:p.Arg2481Ter	coding	Pathogenic
11	103191521	G	A	G103191521A	DYNC2H1	NM_001377.3(DYNC2H1):c.7442G>A:p.Arg2481Gln	coding	Pathogenic
11	103191565	C	T	C103191565T	DYNC2H1	NM_001377.3(DYNC2H1):c.7486C>T:p.Pro2496Ser	coding	Pathogenic
11	103191604	T	C	T103191604C	DYNC2H1	NM_001377.3(DYNC2H1):c.7525T>C:p.Tyr2509His	coding	Pathogenic
11	103191633	G	A	G103191633A	DYNC2H1	NM_001377.3(DYNC2H1):c.7540+14G>A	noncoding	Benign/Likely_benign
11	103191910	T	C	T103191910C	DYNC2H1	NM_001377.3(DYNC2H1):c.7541-187T>C	noncoding	Benign
11	103192133	T	G	T103192133G	DYNC2H1	NM_001377.3(DYNC2H1):c.7577T>G:p.Ile2526Ser	coding	Pathogenic
11	103192199	T	C	T103192199C	DYNC2H1	NM_001377.3(DYNC2H1):c.7643T>C:p.Phe2548Ser	coding	Pathogenic
11	103192219	G	A	G103192219A	DYNC2H1	NM_001377.3(DYNC2H1):c.7663G>A:p.Val2555Met	coding	Pathogenic
11	103198212	G	A	G103198212A	DYNC2H1	NM_001377.3(DYNC2H1):c.7839+149G>A	noncoding	Benign
11	103199333	G	T	G103199333T	DYNC2H1	NM_001377.3(DYNC2H1):c.7945G>T:p.Gly2649Cys	coding	Pathogenic
11	103199354	C	T	C103199354T	DYNC2H1	NM_001377.3(DYNC2H1):c.7966C>T:p.Arg2656Cys	coding	Pathogenic
11	103199355	G	T	G103199355T	DYNC2H1	NM_001377.3(DYNC2H1):c.7967G>T:p.Arg2656Leu	coding	Pathogenic
11	103199372	C	T	C103199372T	DYNC2H1	NM_001377.3(DYNC2H1):c.7984C>T:p.Arg2662Trp	coding	Pathogenic
11	103199373	G	A	G103199373A	DYNC2H1	NM_001377.3(DYNC2H1):c.7985G>A:p.Arg2662Gln	coding	Pathogenic
11	103199400	T	C	T103199400C	DYNC2H1	NM_001377.3(DYNC2H1):c.8012T>C:p.Met2671Thr	coding	Pathogenic
11	103199438	G	T	G103199438T	DYNC2H1	NM_001377.3(DYNC2H1):c.8050G>T:p.Gly2684Ter	coding	Pathogenic
11	103199458	C	G	C103199458G	DYNC2H1	NM_001377.3(DYNC2H1):c.8070C>G:p.Phe2690Leu	coding	Pathogenic
11	103199816	A	G	A103199816G	DYNC2H1	NM_001377.3(DYNC2H1):c.8089-230A>G	noncoding	Benign
11	103200102	C	A	C103200102A	DYNC2H1	NM_001377.3(DYNC2H1):c.8145C>A:p.Tyr2715Ter	coding	Pathogenic
11	103200154	G	T	G103200154T	DYNC2H1	NM_001377.3(DYNC2H1):c.8197G>T:p.Gly2733Cys	coding	Pathogenic
11	103203736	A	G	A103203736G	DYNC2H1	NM_001377.3(DYNC2H1):c.8271A>G:p.Gln2757=	coding	Benign
11	103203777	G	A	G103203777A	DYNC2H1	NM_001377.3(DYNC2H1):c.8311+1G>A	coding	Pathogenic
11	103203910	C	A	C103203910A	DYNC2H1	NM_001377.3(DYNC2H1):c.8311+134C>A	noncoding	Benign
11	103203929	A	G	A103203929G	DYNC2H1	NM_001377.3(DYNC2H1):c.8311+153A>G	noncoding	Benign
11	103204504	T	A	T103204504A	DYNC2H1	NM_001377.3(DYNC2H1):c.8312-318T>A	noncoding	Benign
11	103209933	C	T	C103209933T	DYNC2H1	NM_001377.3(DYNC2H1):c.8512C>T:p.Arg2838Ter	coding	Pathogenic
11	103211829	A	G	A103211829G	DYNC2H1	NM_001377.3(DYNC2H1):c.8580A>G:p.Glu2860=	coding	Benign/Likely_benign
11	103211861	G	A	G103211861A	DYNC2H1	NM_001377.3(DYNC2H1):c.8612G>A:p.Arg2871Gln	coding	Benign
11	103215755	T	C	T103215755C	DYNC2H1	NM_001377.3(DYNC2H1):c.8729T>C:p.Leu2910Pro	coding	Pathogenic
11	103215996	C	G	C103215996G	DYNC2H1	NM_001377.3(DYNC2H1):c.8832+138C>G	noncoding	Benign
11	103219743	A	C	A103219743C	DYNC2H1	NM_001377.3(DYNC2H1):c.8833-172A>C	noncoding	Benign
11	103219789	G	A	G103219789A	DYNC2H1	NM_001377.3(DYNC2H1):c.8833-126G>A	noncoding	Benign
11	103219963	G	A	G103219963A	DYNC2H1	NM_001377.3(DYNC2H1):c.8881G>A:p.Ala2961Thr	coding	Benign/Likely_benign
11	103220156	G	A	G103220156A	DYNC2H1	NM_001377.3(DYNC2H1):c.8946+128G>A	noncoding	Benign
11	103220243	A	T	A103220243T	DYNC2H1	NM_001377.3(DYNC2H1):c.8946+215A>T	noncoding	Benign
11	103220622	G	T	G103220622T	DYNC2H1	NM_001377.3(DYNC2H1):c.8947-1G>T	noncoding	Pathogenic
11	103221843	G	A	G103221843A	DYNC2H1	NM_001377.3(DYNC2H1):c.9108-187G>A	noncoding	Benign
11	103222761	A	T	A103222761T	DYNC2H1	NM_001377.3(DYNC2H1):c.9232-204A>T	noncoding	Benign
11	103222831	A	G	A103222831G	DYNC2H1	NM_001377.3(DYNC2H1):c.9232-134A>G	noncoding	Benign
11	103223087	G	A	G103223087A	DYNC2H1	NM_001377.3(DYNC2H1):c.9353+1G>A	coding	Pathogenic
11	103223093	G	A	G103223093A	DYNC2H1	NM_001377.3(DYNC2H1):c.9353+7G>A	noncoding	Benign/Likely_benign
11	103231139	G	C	G103231139C	DYNC2H1	NM_001377.3(DYNC2H1):c.9354-121G>C	noncoding	Benign
11	103231174	A	G	A103231174G	DYNC2H1	NM_001377.3(DYNC2H1):c.9354-86A>G	noncoding	Benign
11	103231189	A	G	A103231189G	DYNC2H1	NM_001377.3(DYNC2H1):c.9354-71A>G	noncoding	Benign
11	103231197	G	T	G103231197T	DYNC2H1	NM_001377.3(DYNC2H1):c.9354-63G>T	noncoding	Benign
11	103233940	A	G	A103233940G	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-94A>G	noncoding	Benign
11	103234158	C	T	C103234158T	DYNC2H1	NM_001377.3(DYNC2H1):c.9565C>T:p.Gln3189Ter	coding	Pathogenic
11	103236428	A	G	A103236428G	DYNC2H1	NM_001377.3(DYNC2H1):c.9710-2A>G	noncoding	Pathogenic
11	103236664	G	A	G103236664A	DYNC2H1	NM_001377.3(DYNC2H1):c.9819+125G>A	noncoding	Benign
11	103236665	C	A	C103236665A	DYNC2H1	NM_001377.3(DYNC2H1):c.9819+126C>A	noncoding	Benign
11	103241543	C	G	C103241543G	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-2150C>G	coding	Pathogenic
11	103241546	G	A	G103241546A	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-2147G>A	coding	Pathogenic
11	103241727	C	T	C103241727T	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-1966C>T	noncoding	Benign
11	103243717	G	A	G103243717A	DYNC2H1	NM_001377.3(DYNC2H1):c.9844G>A:p.Asp3282Asn	coding	Pathogenic
11	103245356	C	T	C103245356T	DYNC2H1	NM_001377.3(DYNC2H1):c.10024C>T:p.Arg3342Ter	coding	Pathogenic
11	103245374	G	T	G103245374T	DYNC2H1	NM_001377.3(DYNC2H1):c.10042G>T:p.Gly3348Ter	coding	Pathogenic
11	103245376	T	G	T103245376G	DYNC2H1	NM_001377.3(DYNC2H1):c.10042+2T>G	noncoding	Pathogenic
11	103245637	C	T	C103245637T	DYNC2H1	NM_001377.3(DYNC2H1):c.10042+263C>T	noncoding	Benign
11	103253057	G	A	G103253057A	DYNC2H1	NM_001377.3(DYNC2H1):c.10043-228G>A	noncoding	Benign
11	103253209	A	G	A103253209G	DYNC2H1	NM_001377.3(DYNC2H1):c.10043-76A>G	noncoding	Benign
11	103253270	G	T	G103253270T	DYNC2H1	NM_001377.3(DYNC2H1):c.10043-15G>T	noncoding	Benign
11	103253341	C	T	C103253341T	DYNC2H1	NM_001377.3(DYNC2H1):c.10099C>T:p.Arg3367Cys	coding	Pathogenic
11	103253347	T	C	T103253347C	DYNC2H1	NM_001377.3(DYNC2H1):c.10105T>C:p.Phe3369Leu	coding	Pathogenic
11	103253406	T	G	T103253406G	DYNC2H1	NM_001377.3(DYNC2H1):c.10164T>G:p.Thr3388=	coding	Benign
11	103253599	T	C	T103253599C	DYNC2H1	NM_001377.3(DYNC2H1):c.10206+151T>C	noncoding	Benign
11	103255522	A	G	A103255522G	DYNC2H1	NM_001377.3(DYNC2H1):c.10314A>G:p.Glu3438=	coding	Benign/Likely_benign
11	103255801	G	A	G103255801A	DYNC2H1	NM_001377.3(DYNC2H1):c.10326+267G>A	noncoding	Benign
11	103255937	A	G	A103255937G	DYNC2H1	NM_001377.3(DYNC2H1):c.10327-169A>G	noncoding	Benign
11	103256053	A	G	A103256053G	DYNC2H1	NM_001377.3(DYNC2H1):c.10327-53A>G	noncoding	Benign
11	103256240	A	G	A103256240G	DYNC2H1	NM_001377.3(DYNC2H1):c.10461A>G:p.Gln3487=	coding	Benign/Likely_benign
11	103256241	G	A	G103256241A	DYNC2H1	NM_001377.3(DYNC2H1):c.10461+1G>A	coding	Pathogenic
11	103256267	G	A	G103256267A	DYNC2H1	NM_001377.3(DYNC2H1):c.10461+27G>A	noncoding	Benign
11	103256488	A	T	A103256488T	DYNC2H1	NM_001377.3(DYNC2H1):c.10461+248A>T	noncoding	Benign
11	103257625	C	G	C103257625G	DYNC2H1	NM_001377.3(DYNC2H1):c.10479C>G:p.Leu3493=	coding	Benign/Likely_benign
11	103257719	C	T	C103257719T	DYNC2H1	NM_001377.3(DYNC2H1):c.10573C>T:p.Arg3525Ter	coding	Pathogenic
11	103257731	C	T	C103257731T	DYNC2H1	NM_001377.3(DYNC2H1):c.10585C>T:p.Arg3529Ter	coding	Pathogenic
11	103257749	C	T	C103257749T	DYNC2H1	NM_001377.3(DYNC2H1):c.10603C>T:p.Gln3535Ter	coding	Pathogenic
11	103257778	A	G	A103257778G	DYNC2H1	NM_001377.3(DYNC2H1):c.10605+27A>G	noncoding	Benign
11	103259932	A	G	A103259932G	DYNC2H1	NM_001377.3(DYNC2H1):c.10650A>G:p.Ser3550=	coding	Benign/Likely_benign
11	103280141	G	T	G103280141T	DYNC2H1	NM_001377.3(DYNC2H1):c.10696-207G>T	noncoding	Benign
11	103280151	A	T	A103280151T	DYNC2H1	NM_001377.3(DYNC2H1):c.10696-197A>T	noncoding	Benign
11	103280305	A	G	A103280305G	DYNC2H1	NM_001377.3(DYNC2H1):c.10696-43A>G	noncoding	Benign
11	103280603	A	G	A103280603G	DYNC2H1	NM_001377.3(DYNC2H1):c.10761+190A>G	noncoding	Benign
11	103280708	C	T	C103280708T	DYNC2H1	NM_001377.3(DYNC2H1):c.10761+295C>T	noncoding	Benign
11	103281869	G	A	G103281869A	DYNC2H1	NM_001377.3(DYNC2H1):c.10762-310G>A	noncoding	Benign
11	103282190	G	A	G103282190A	DYNC2H1	NM_001377.3(DYNC2H1):c.10773G>A:p.Thr3591=	coding	Benign
11	103283029	G	C	G103283029C	DYNC2H1	NM_001377.3(DYNC2H1):c.10834G>C:p.Asp3612His	coding	Benign/Likely_benign
11	103283059	C	A	C103283059A	DYNC2H1	NM_001377.3(DYNC2H1):c.10864C>A:p.Arg3622=	coding	Benign/Likely_benign
11	103286200	G	A	G103286200A	DYNC2H1	NM_001377.3(DYNC2H1):c.10891-55G>A	noncoding	Benign
11	103286264	C	T	C103286264T	DYNC2H1	NM_001377.3(DYNC2H1):c.10900C>T:p.Pro3634Ser	coding	Pathogenic
11	103286330	A	G	A103286330G	DYNC2H1	NM_001377.3(DYNC2H1):c.10966A>G:p.Met3656Val	coding	Benign
11	103287549	C	T	C103287549T	DYNC2H1	NM_001377.3(DYNC2H1):c.11039C>T:p.Ala3680Val	coding	Benign
11	103302829	G	A	G103302829A	DYNC2H1	NM_001377.3(DYNC2H1):c.11096-264G>A	noncoding	Benign
11	103303271	C	T	C103303271T	DYNC2H1	NM_001377.3(DYNC2H1):c.11256+18C>T	noncoding	Benign
11	103303306	T	G	T103303306G	DYNC2H1	NM_001377.3(DYNC2H1):c.11256+53T>G	noncoding	Benign
11	103304608	A	G	A103304608G	DYNC2H1	NM_001377.3(DYNC2H1):c.11270A>G:p.Gln3757Arg	coding	Pathogenic
11	103307432	A	T	A103307432T	DYNC2H1	NM_001377.3(DYNC2H1):c.11383-289A>T	noncoding	Benign
11	103307474	C	T	C103307474T	DYNC2H1	NM_001377.3(DYNC2H1):c.11383-247C>T	noncoding	Benign
11	103307475	A	G	A103307475G	DYNC2H1	NM_001377.3(DYNC2H1):c.11383-246A>G	noncoding	Benign
11	103308091	G	A	G103308091A	DYNC2H1	NM_001377.3(DYNC2H1):c.11493+260G>A	noncoding	Benign
11	103311591	A	G	A103311591G	DYNC2H1	NM_001377.3(DYNC2H1):c.11494-287A>G	noncoding	Benign
11	103312045	C	A	C103312045A	DYNC2H1	NM_001377.3(DYNC2H1):c.11649+12C>A	noncoding	Benign
11	103316300	T	C	T103316300C	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-245T>C	noncoding	Benign
11	103316325	A	G	A103316325G	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-220A>G	noncoding	Benign
11	103316369	A	C	A103316369C	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-176A>C	noncoding	Benign
11	103316440	T	C	T103316440C	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-105T>C	noncoding	Benign
11	103316544	G	A	G103316544A	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-1G>A	noncoding	Pathogenic
11	103316565	A	G	A103316565G	DYNC2H1	NM_001377.3(DYNC2H1):c.11670A>G:p.Glu3890=	coding	Benign
11	103316576	C	G	C103316576G	DYNC2H1	NM_001377.3(DYNC2H1):c.11681C>G:p.Ser3894Ter	coding	Pathogenic
11	103316709	C	G	C103316709G	DYNC2H1	NM_001377.3(DYNC2H1):c.11725+89C>G	noncoding	Benign
11	103316824	G	A	G103316824A	DYNC2H1	NM_001377.3(DYNC2H1):c.11725+204G>A	noncoding	Benign
11	103321019	A	T	A103321019T	DYNC2H1	NM_001377.3(DYNC2H1):c.11726-10A>T	noncoding	Benign/Likely_benign
11	103321132	C	G	C103321132G	DYNC2H1	NM_001377.3(DYNC2H1):c.11829C>G:p.Tyr3943Ter	coding	Pathogenic
11	103321207	C	T	C103321207T	DYNC2H1	NM_001377.3(DYNC2H1):c.11904C>T:p.Ser3968=	coding	Benign
11	103321297	A	C	A103321297C	DYNC2H1	NM_001377.3(DYNC2H1):c.11934+60A>C	noncoding	Benign
11	103321360	G	C	G103321360C	DYNC2H1	NM_001377.3(DYNC2H1):c.11934+123G>C	noncoding	Benign
11	103324076	C	G	C103324076G	DYNC2H1	NM_001377.3(DYNC2H1):c.12039+86C>G	noncoding	Benign
11	103358299	T	C	T103358299C	DYNC2H1	NM_001377.3(DYNC2H1):c.12096T>C:p.Asp4032=	coding	Benign
11	103358360	G	A	G103358360A	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+1G>A	coding	Pathogenic
11	103358510	G	A	G103358510A	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+151G>A	noncoding	Benign
11	103358546	T	C	T103358546C	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+187T>C	noncoding	Benign
11	103358585	T	A	T103358585A	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+226T>A	noncoding	Benign
11	103399879	G	A	G103399879A	DYNC2H1	NM_001377.3(DYNC2H1):c.12366+7G>A	noncoding	Benign
11	103400131	T	C	T103400131C	DYNC2H1	NM_001377.3(DYNC2H1):c.12366+259T>C	noncoding	Benign
11	103435727	A	T	A103435727T	DYNC2H1	NM_001377.3(DYNC2H1):c.12367-216A>T	noncoding	Benign
11	103455177	C	T	C103455177T	DYNC2H1	NM_001377.3(DYNC2H1):c.12457-9C>T	noncoding	Benign
11	103455180	C	T	C103455180T	DYNC2H1	NM_001377.3(DYNC2H1):c.12457-6C>T	noncoding	Benign/Likely_benign
11	103455432	C	G	C103455432G	DYNC2H1	NM_001377.3(DYNC2H1):c.12566+137C>G	noncoding	Benign
11	103456057	C	T	C103456057T	DYNC2H1	NM_001377.3(DYNC2H1):c.12567-218C>T	noncoding	Benign
11	103456103	G	A	G103456103A	DYNC2H1	NM_001377.3(DYNC2H1):c.12567-172G>A	noncoding	Benign
11	103456438	G	T	G103456438T	DYNC2H1	NM_001377.3(DYNC2H1):c.12648+82G>T	noncoding	Benign
11	103468878	A	G	A103468878G	DYNC2H1	NM_001377.3(DYNC2H1):c.12765+173A>G	noncoding	Benign
11	103468905	A	T	A103468905T	DYNC2H1	NM_001377.3(DYNC2H1):c.12765+200A>T	noncoding	Benign
11	103478850	A	T	A103478850T	DYNC2H1	NM_001377.3(DYNC2H1):c.12766-245A>T	noncoding	Benign
11	103479135	T	C	T103479135C	DYNC2H1	NM_001377.3(DYNC2H1):c.12806T>C:p.Leu4269Ser	coding	Pathogenic
11	103479158	A	G	A103479158G	DYNC2H1	NM_001377.3(DYNC2H1):c.12829A>G:p.Arg4277Gly	coding	Pathogenic
11	104948606	C	A	C104948606A	CASP4	NM_001225.4(CASP4):c.852G>T:p.Glu284Asp	coding	Benign
11	104954870	C	T	C104954870T	CASP4	NM_001225.4(CASP4):c.139G>A:p.Asp47Asn	coding	Benign
11	105031189	C	T	C105031189T	CASP1	NM_001257118.3(CASP1):c.429G>A:p.Arg143=	coding	Benign
11	105034301	C	T	C105034301T	CASP1	NM_001257118.3(CASP1):c.181G>A:p.Val61Ile	coding	Benign
11	105034373	T	G	T105034373G	CASP1	NM_001257118.3(CASP1):c.109A>C:p.Lys37Gln	coding	Benign
11	105100780	C	G	C105100780G	CARD17	NM_001007232.1(CARD17):c.8-1G>C	coding	Benign
11	105753169	C	T	C105753169T	GRIA4	NM_000829.4(GRIA4):c.436C>T:p.Leu146=	coding	Benign
11	105926808	A	T	A105926808T	GRIA4	NM_000829.4(GRIA4):c.1915A>T:p.Thr639Ser	coding	Pathogenic/Likely_pathogenic
11	105926821	C	G	C105926821G	GRIA4	NM_000829.4(GRIA4):c.1928C>G:p.Ala643Gly	coding	Pathogenic/Likely_pathogenic
11	105926824	C	T	C105926824T	GRIA4	NM_000829.4(GRIA4):c.1931C>T:p.Ala644Val	coding	Pathogenic/Likely_pathogenic
11	105974305	C	A	C105974305A	GRIA4	NM_000829.4(GRIA4):c.2410-5C>A	noncoding	Benign
11	106939832	A	G	A106939832G	GUCY1A2	NM_000855.3(GUCY1A2):c.834T>C:p.Ser278=	coding	Benign
11	107504833	G	C	G107504833C	ALKBH8	NM_138775.3(ALKBH8):c.1820C>G:p.Pro607Arg	coding	Benign
11	107505002	G	A	G107505002A	ALKBH8	NM_138775.3(ALKBH8):c.1651C>T:p.Arg551Ter	coding	Pathogenic
11	107510924	C	G	C107510924G	ALKBH8	NM_138775.3(ALKBH8):c.1400G>C:p.Cys467Ser	coding	Benign
11	108121579	T	A	T108121579A	ACAT1	NM_000019.4(ACAT1):c.-28T>A	noncoding	Benign
11	108121585	C	G	C108121585G	ACAT1	NM_000019.4(ACAT1):c.-22C>G	noncoding	Benign
11	108121592	C	G	C108121592G	ACAT1	NM_000019.4(ACAT1):c.-15C>G	noncoding	Benign
11	108121598	T	A	T108121598A	ACAT1	NM_000019.4(ACAT1):c.-9T>A	noncoding	Benign
11	108121607	A	G	A108121607G	ACAT1	NM_000019.4(ACAT1):c.1A>G:p.Met1Val	coding	Pathogenic
11	108121608	T	A	T108121608A	ACAT1	NM_000019.4(ACAT1):c.2T>A:p.Met1Lys	coding	Pathogenic
11	108121608	T	C	T108121608C	ACAT1	NM_000019.4(ACAT1):c.2T>C:p.Met1Thr	coding	Pathogenic
11	108121619	G	C	G108121619C	ACAT1	NM_000019.4(ACAT1):c.13G>C:p.Ala5Pro	coding	Benign
11	108131913	A	T	A108131913T	ACAT1	NM_000019.4(ACAT1):c.79A>T:p.Arg27Ter	coding	Pathogenic
11	108131933	T	A	T108131933A	ACAT1	NM_000019.4(ACAT1):c.99T>A:p.Tyr33Ter	coding	Pathogenic
11	108133807	T	A	T108133807A	ACAT1	NM_000019.4(ACAT1):c.121-13T>A	noncoding	Pathogenic
11	108134268	C	T	C108134268T	ACAT1	NM_000019.4(ACAT1):c.286C>T:p.Gln96Ter	coding	Pathogenic
11	108134317	G	A	G108134317A	ACAT1	NM_000019.4(ACAT1):c.334+1G>A	coding	Pathogenic
11	108135187	C	T	C108135187T	ACAT1	NM_000019.4(ACAT1):c.380C>T:p.Ala127Val	coding	Pathogenic
11	108135243	G	A	G108135243A	ACAT1	NM_000019.4(ACAT1):c.435+1G>A	coding	Pathogenic
11	108138894	G	A	G108138894A	ACAT1	NM_000019.4(ACAT1):c.436-4G>A	noncoding	Benign
11	108138917	G	C	G108138917C	ACAT1	NM_000019.4(ACAT1):c.455G>C:p.Gly152Ala	coding	Pathogenic/Likely_pathogenic
11	108138933	C	A	C108138933A	ACAT1	NM_000019.4(ACAT1):c.471C>A:p.Ser157=	coding	Benign
11	108138934	A	G	A108138934G	ACAT1	NM_000019.4(ACAT1):c.472A>G:p.Asn158Asp	coding	Pathogenic/Likely_pathogenic
11	108138935	A	G	A108138935G	ACAT1	NM_000019.4(ACAT1):c.473A>G:p.Asn158Ser	coding	Pathogenic/Likely_pathogenic
11	108138942	A	G	A108138942G	ACAT1	NM_000019.4(ACAT1):c.480A>G:p.Pro160=	coding	Benign
11	108139040	T	C	T108139040C	ACAT1	NM_000019.4(ACAT1):c.578T>C:p.Met193Thr	coding	Pathogenic/Likely_pathogenic
11	108139040	T	G	T108139040G	ACAT1	NM_000019.4(ACAT1):c.578T>G:p.Met193Arg	coding	Pathogenic/Likely_pathogenic
11	108140107	C	T	C108140107T	ACAT1	NM_000019.4(ACAT1):c.622C>T:p.Arg208Ter	coding	Pathogenic
11	108140127	T	G	T108140127G	ACAT1	NM_000019.4(ACAT1):c.642T>G:p.Tyr214Ter	coding	Pathogenic
11	108140216	G	A	G108140216A	ACAT1	NM_000019.4(ACAT1):c.730+1G>A	coding	Pathogenic
11	108140217	T	C	T108140217C	ACAT1	NM_000019.4(ACAT1):c.730+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108141577	G	A	G108141577A	ACAT1	NM_000019.4(ACAT1):c.731-28G>A	noncoding	Benign
11	108141631	G	A	G108141631A	ACAT1	NM_000019.4(ACAT1):c.757G>A:p.Asp253Asn	coding	Pathogenic
11	108141688	C	T	C108141688T	ACAT1	NM_000019.4(ACAT1):c.814C>T:p.Gln272Ter	coding	Pathogenic
11	108141701	G	T	G108141701T	ACAT1	NM_000019.4(ACAT1):c.826+1G>T	coding	Pathogenic
11	108142500	C	T	C108142500T	ACAT1	NM_000019.4(ACAT1):c.890C>T:p.Thr297Met	coding	Pathogenic/Likely_pathogenic
11	108142513	G	A	G108142513A	ACAT1	NM_000019.4(ACAT1):c.903G>A:p.Ala301=	coding	Benign
11	108142551	G	T	G108142551T	ACAT1	NM_000019.4(ACAT1):c.940+1G>T	coding	Pathogenic
11	108143974	T	A	T108143974A	ACAT1	NM_000019.4(ACAT1):c.941-9T>A	noncoding	Pathogenic
11	108143991	G	A	G108143991A	ACAT1	NM_000019.4(ACAT1):c.949G>A:p.Asp317Asn	coding	Pathogenic
11	108143993	C	T	C108143993T	ACAT1	NM_000019.4(ACAT1):c.951C>T:p.Asp317=	coding	Pathogenic
11	108144020	A	C	A108144020C	ACAT1	NM_000019.4(ACAT1):c.978A>C:p.Pro326=	coding	Benign
11	108144039	G	C	G108144039C	ACAT1	NM_000019.4(ACAT1):c.997G>C:p.Ala333Pro	coding	Pathogenic/Likely_pathogenic
11	108146200	A	C	A108146200C	ACAT1	NM_000019.4(ACAT1):c.1006-2A>C	noncoding	Pathogenic
11	108146201	G	A	G108146201A	ACAT1	NM_000019.4(ACAT1):c.1006-1G>A	noncoding	Pathogenic
11	108146201	G	C	G108146201C	ACAT1	NM_000019.4(ACAT1):c.1006-1G>C	noncoding	Pathogenic
11	108146245	G	A	G108146245A	ACAT1	NM_000019.4(ACAT1):c.1049G>A:p.Trp350Ter	coding	Pathogenic
11	108146264	T	C	T108146264C	ACAT1	NM_000019.4(ACAT1):c.1068T>C:p.Phe356=	coding	Benign
11	108146320	A	G	A108146320G	ACAT1	NM_000019.4(ACAT1):c.1124A>G:p.Asn375Ser	coding	Pathogenic
11	108146359	G	A	G108146359A	ACAT1	NM_000019.4(ACAT1):c.1163G>A:p.Gly388Glu	coding	Pathogenic
11	108146361	T	C	T108146361C	ACAT1	NM_000019.4(ACAT1):c.1163+2T>C	noncoding	Pathogenic
11	108147569	T	G	T108147569G	ACAT1	NM_000019.4(ACAT1):c.*179T>G	noncoding	Benign
11	108147604	G	C	G108147604C	ACAT1	NM_000019.3(ACAT1):c.*214G>C	noncoding	Benign
11	108147640	C	T	C108147640T	ACAT1	NM_000019.3(ACAT1):c.*250C>T	noncoding	Benign
11	108147683	A	T	A108147683T	ACAT1	NM_000019.3(ACAT1):c.*293A>T	noncoding	Benign
11	108147897	G	A	G108147897A	ACAT1	NM_000019.3(ACAT1):c.*507G>A	noncoding	Benign
11	108147945	A	G	A108147945G	ACAT1	NM_000019.3(ACAT1):c.*555A>G	noncoding	Benign
11	108147989	A	C	A108147989C	ACAT1	NM_000019.3(ACAT1):c.*599A>C	noncoding	Benign
11	108173161	A	G	A108173161G	NPAT	NM_002519.3(NPAT):c.1823T>C:p.Val608Ala	coding	Benign
11	108185277	G	A	G108185277A	NPAT	NM_002519.3(NPAT):c.861C>T:p.Asn287=	coding	Benign
11	108189274	T	C	T108189274C	NPAT	NM_002519.3(NPAT):c.388A>G:p.Thr130Ala	coding	Benign
11	108192199	T	C	T108192199C	NPAT	NM_002519.3(NPAT):c.218-9A>G	noncoding	Benign
11	108223106	G	A	G108223106A	ATM	NM_000051.3(ATM):c.-111G>A	noncoding	Benign
11	108223194	C	T	C108223194T	ATM	NM_000051.3(ATM):c.-31+8C>T	noncoding	Benign
11	108227625	A	C	A108227625C	ATM	NM_000051.3(ATM):c.1A>C:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
11	108227625	A	G	A108227625G	ATM	NM_000051.3(ATM):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
11	108227626	T	C	T108227626C	ATM	NM_000051.3(ATM):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
11	108227627	G	A	G108227627A	ATM	NM_000051.3(ATM):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
11	108227691	C	T	C108227691T	ATM	NM_000051.3(ATM):c.67C>T:p.Arg23Ter	coding	Pathogenic
11	108227697	G	A	G108227697A	ATM	NM_000051.3(ATM):c.72+1G>A	coding	Pathogenic/Likely_pathogenic
11	108227698	T	C	T108227698C	ATM	NM_000051.3(ATM):c.72+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108227806	C	T	C108227806T	ATM	NM_000051.4(ATM):c.103C>T:p.Arg35Ter	coding	Pathogenic/Likely_pathogenic
11	108227843	C	G	C108227843G	ATM	NM_000051.3(ATM):c.140C>G:p.Ser47Ter	coding	Pathogenic
11	108227849	C	G	C108227849G	ATM	NM_000051.3(ATM):c.146C>G:p.Ser49Cys	coding	Benign/Likely_benign
11	108227854	C	T	C108227854T	ATM	NM_000051.3(ATM):c.151C>T:p.Gln51Ter	coding	Pathogenic
11	108227857	G	T	G108227857T	ATM	NM_000051.3(ATM):c.154G>T:p.Gly52Ter	coding	Pathogenic
11	108227860	A	T	A108227860T	ATM	NM_000051.3(ATM):c.157A>T:p.Lys53Ter	coding	Pathogenic/Likely_pathogenic
11	108227873	G	A	G108227873A	ATM	NM_000051.3(ATM):c.170G>A:p.Trp57Ter	coding	Pathogenic
11	108229161	A	G	A108229161G	ATM	NM_000051.3(ATM):c.186-17A>G	noncoding	Benign
11	108229171	C	T	C108229171T	ATM	NM_000051.3(ATM):c.186-7C>T	noncoding	Benign/Likely_benign
11	108229183	T	G	T108229183G	ATM	NM_000051.3(ATM):c.191T>G:p.Leu64Ter	coding	Pathogenic
11	108229185	C	T	C108229185T	ATM	NM_000051.3(ATM):c.193C>T:p.Gln65Ter	coding	Pathogenic/Likely_pathogenic
11	108229190	A	G	A108229190G	ATM	NM_000051.3(ATM):c.198A>G:p.Lys66=	coding	Benign/Likely_benign
11	108229197	C	T	C108229197T	ATM	NM_000051.3(ATM):c.205C>T:p.Gln69Ter	coding	Pathogenic
11	108229263	C	T	C108229263T	ATM	NM_000051.4(ATM):c.271C>T:p.Gln91Ter	coding	Pathogenic
11	108229275	C	T	C108229275T	ATM	NM_000051.3(ATM):c.283C>T:p.Gln95Ter	coding	Pathogenic/Likely_pathogenic
11	108229278	G	T	G108229278T	ATM	NM_000051.4(ATM):c.286G>T:p.Glu96Ter	coding	Pathogenic
11	108229291	T	A	T108229291A	ATM	NM_000051.3(ATM):c.299T>A:p.Leu100Ter	coding	Pathogenic
11	108229324	G	A	G108229324A	ATM	NM_000051.3(ATM):c.331+1G>A	coding	Pathogenic/Likely_pathogenic
11	108229328	G	A	G108229328A	ATM	NM_000051.3(ATM):c.331+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	108235690	C	T	C108235690T	ATM	NM_000051.4(ATM):c.352C>T:p.Gln118Ter	coding	Pathogenic
11	108235700	T	A	T108235700A	ATM	NM_000051.3(ATM):c.362T>A:p.Leu121Ter	coding	Pathogenic
11	108235716	T	A	T108235716A	ATM	NM_000051.3(ATM):c.378T>A:p.Asp126Glu	coding	Benign/Likely_benign
11	108235730	C	A	C108235730A	ATM	NM_000051.3(ATM):c.392C>A:p.Ser131Ter	coding	Pathogenic
11	108235730	C	G	C108235730G	ATM	NM_000051.3(ATM):c.392C>G:p.Ser131Ter	coding	Pathogenic/Likely_pathogenic
11	108235749	C	A	C108235749A	ATM	NM_000051.4(ATM):c.411C>A:p.Tyr137Ter	coding	Pathogenic
11	108235805	G	A	G108235805A	ATM	NM_000051.3(ATM):c.467G>A:p.Trp156Ter	coding	Pathogenic
11	108235806	G	A	G108235806A	ATM	NM_000051.4(ATM):c.468G>A:p.Trp156Ter	coding	Pathogenic
11	108235809	T	A	T108235809A	ATM	NM_000051.3(ATM):c.471T>A:p.Cys157Ter	coding	Pathogenic
11	108235822	C	T	C108235822T	ATM	NM_000051.3(ATM):c.484C>T:p.Gln162Ter	coding	Pathogenic
11	108235825	C	T	C108235825T	ATM	NM_000051.4(ATM):c.487C>T:p.Gln163Ter	coding	Pathogenic
11	108235832	T	G	T108235832G	ATM	NM_000051.4(ATM):c.494T>G:p.Leu165Ter	coding	Pathogenic
11	108235834	G	C	G108235834C	ATM	NM_000051.3(ATM):c.496G>C:p.Glu166Gln	coding	Pathogenic
11	108235834	G	T	G108235834T	ATM	NM_000051.3(ATM):c.496G>T:p.Glu166Ter	coding	Pathogenic
11	108235852	T	A	T108235852A	ATM	NM_000051.3(ATM):c.496+18T>A	noncoding	Benign/Likely_benign
11	108243969	C	G	C108243969G	ATM	NM_000051.3(ATM):c.513C>G:p.Tyr171Ter	coding	Pathogenic/Likely_pathogenic
11	108243981	T	G	T108243981G	ATM	NM_000051.4(ATM):c.525T>G:p.Tyr175Ter	coding	Pathogenic
11	108243994	C	T	C108243994T	ATM	NM_000051.3(ATM):c.538C>T:p.Gln180Ter	coding	Pathogenic
11	108244000	G	C	G108244000C	ATM	NM_000051.3(ATM):c.544G>C:p.Val182Leu	coding	Benign/Likely_benign
11	108244013	T	G	T108244013G	ATM	NM_000051.3(ATM):c.557T>G:p.Leu186Ter	coding	Pathogenic
11	108244025	T	A	T108244025A	ATM	NM_000051.3(ATM):c.569T>A:p.Ile190Lys	coding	Benign
11	108244053	T	A	T108244053A	ATM	NM_000051.3(ATM):c.597T>A:p.Cys199Ter	coding	Pathogenic
11	108244057	C	T	C108244057T	ATM	NM_000051.3(ATM):c.601C>T:p.Gln201Ter	coding	Pathogenic/Likely_pathogenic
11	108244070	T	G	T108244070G	ATM	NM_000051.4(ATM):c.614T>G:p.Leu205Ter	coding	Pathogenic
11	108244108	C	T	C108244108T	ATM	NM_000051.3(ATM):c.652C>T:p.Gln218Ter	coding	Pathogenic/Likely_pathogenic
11	108244113	T	C	T108244113C	ATM	NM_000051.3(ATM):c.657T>C:p.Cys219=	coding	Benign
11	108244789	C	T	C108244789T	ATM	NM_000051.3(ATM):c.664C>T:p.Gln222Ter	coding	Pathogenic/Likely_pathogenic
11	108244805	C	G	C108244805G	ATM	NM_000051.3(ATM):c.680C>G:p.Ser227Ter	coding	Pathogenic
11	108244860	C	T	C108244860T	ATM	NM_000051.3(ATM):c.735C>T:p.Val245=	coding	Benign/Likely_benign
11	108244867	C	T	C108244867T	ATM	NM_000051.3(ATM):c.742C>T:p.Arg248Ter	coding	Pathogenic/Likely_pathogenic
11	108244873	C	T	C108244873T	ATM	NM_000051.4(ATM):c.748C>T:p.Arg250Ter	coding	Pathogenic
11	108244910	T	A	T108244910A	ATM	NM_000051.3(ATM):c.785T>A:p.Leu262Ter	coding	Pathogenic/Likely_pathogenic
11	108244923	G	A	G108244923A	ATM	NM_000051.4(ATM):c.798G>A:p.Trp266Ter	coding	Pathogenic
11	108244927	C	T	C108244927T	ATM	NM_000051.3(ATM):c.802C>T:p.Gln268Ter	coding	Pathogenic/Likely_pathogenic
11	108244954	G	T	G108244954T	ATM	NM_000051.3(ATM):c.829G>T:p.Glu277Ter	coding	Pathogenic/Likely_pathogenic
11	108244966	G	T	G108244966T	ATM	NM_000051.4(ATM):c.841G>T:p.Glu281Ter	coding	Pathogenic
11	108244975	C	T	C108244975T	ATM	NM_000051.3(ATM):c.850C>T:p.Gln284Ter	coding	Pathogenic
11	108244986	T	C	T108244986C	ATM	NM_000051.3(ATM):c.861T>C:p.Ile287=	coding	Benign/Likely_benign
11	108245000	C	T	C108245000T	ATM	NM_000051.3(ATM):c.875C>T:p.Pro292Leu	coding	Pathogenic/Likely_pathogenic
11	108245001	G	A	G108245001A	ATM	NM_000051.3(ATM):c.876G>A:p.Pro292=	coding	Benign/Likely_benign
11	108245017	C	T	C108245017T	ATM	NM_000051.4(ATM):c.892C>T:p.Gln298Ter	coding	Pathogenic
11	108245027	G	A	G108245027A	ATM	NM_000051.3(ATM):c.901+1G>A	coding	Pathogenic
11	108245027	G	C	G108245027C	ATM	NM_000051.3(ATM):c.901+1G>C	coding	Pathogenic/Likely_pathogenic
11	108245027	G	T	G108245027T	ATM	NM_000051.3(ATM):c.901+1G>T	coding	Pathogenic/Likely_pathogenic
11	108246963	G	T	G108246963T	ATM	NM_000051.3(ATM):c.902-1G>T	noncoding	Pathogenic
11	108246985	G	A	G108246985A	ATM	NM_000051.4(ATM):c.923G>A:p.Trp308Ter	coding	Pathogenic
11	108247065	G	T	G108247065T	ATM	NM_000051.3(ATM):c.1003G>T:p.Gly335Ter	coding	Pathogenic/Likely_pathogenic
11	108247125	C	T	C108247125T	ATM	NM_000051.3(ATM):c.1063C>T:p.Gln355Ter	coding	Pathogenic
11	108247128	G	T	G108247128T	ATM	NM_000051.4(ATM):c.1065+1G>T	coding	Pathogenic/Likely_pathogenic
11	108248960	G	T	G108248960T	ATM	NM_000051.3(ATM):c.1093G>T:p.Glu365Ter	coding	Pathogenic/Likely_pathogenic
11	108248977	C	G	C108248977G	ATM	NM_000051.3(ATM):c.1110C>G:p.Tyr370Ter	coding	Pathogenic
11	108248987	C	T	C108248987T	ATM	NM_000051.3(ATM):c.1120C>T:p.Gln374Ter	coding	Pathogenic/Likely_pathogenic
11	108248993	G	T	G108248993T	ATM	NM_000051.3(ATM):c.1126G>T:p.Glu376Ter	coding	Pathogenic
11	108249035	G	T	G108249035T	ATM	NM_000051.4(ATM):c.1168G>T:p.Glu390Ter	coding	Pathogenic
11	108249043	C	G	C108249043G	ATM	NM_000051.3(ATM):c.1176C>G:p.Gly392=	coding	Benign
11	108249045	G	A	G108249045A	ATM	NM_000051.3(ATM):c.1178G>A:p.Trp393Ter	coding	Pathogenic
11	108249056	A	T	A108249056T	ATM	NM_000051.4(ATM):c.1189A>T:p.Lys397Ter	coding	Pathogenic
11	108249075	C	A	C108249075A	ATM	NM_000051.3(ATM):c.1208C>A:p.Ser403Ter	coding	Pathogenic
11	108249077	C	T	C108249077T	ATM	NM_000051.4(ATM):c.1210C>T:p.Gln404Ter	coding	Pathogenic
11	108249102	G	A	G108249102A	ATM	NM_000051.3(ATM):c.1235G>A:p.Trp412Ter	coding	Pathogenic
11	108250699	A	G	A108250699G	ATM	NM_000051.4(ATM):c.1236-2A>G	noncoding	Pathogenic
11	108250719	A	G	A108250719G	ATM	NM_000051.3(ATM):c.1254A>G:p.Gln418=	coding	Benign/Likely_benign
11	108250769	T	G	T108250769G	ATM	NM_000051.3(ATM):c.1304T>G:p.Leu435Ter	coding	Pathogenic
11	108250786	C	T	C108250786T	ATM	NM_000051.3(ATM):c.1321C>T:p.Gln441Ter	coding	Pathogenic
11	108250798	C	T	C108250798T	ATM	NM_000051.4(ATM):c.1333C>T:p.Gln445Ter	coding	Pathogenic
11	108250801	C	T	C108250801T	ATM	NM_000051.4(ATM):c.1336C>T:p.Gln446Ter	coding	Pathogenic
11	108250804	C	T	C108250804T	ATM	NM_000051.3(ATM):c.1339C>T:p.Arg447Ter	coding	Pathogenic/Likely_pathogenic
11	108250834	C	T	C108250834T	ATM	NM_000051.3(ATM):c.1369C>T:p.Arg457Ter	coding	Pathogenic
11	108250845	G	C	G108250845C	ATM	NM_000051.3(ATM):c.1380G>C:p.Thr460=	coding	Benign/Likely_benign
11	108250861	C	T	C108250861T	ATM	NM_000051.3(ATM):c.1396C>T:p.Gln466Ter	coding	Pathogenic
11	108250874	C	G	C108250874G	ATM	NM_000051.4(ATM):c.1409C>G:p.Ser470Ter	coding	Pathogenic
11	108250889	C	G	C108250889G	ATM	NM_000051.3(ATM):c.1424C>G:p.Ser475Ter	coding	Pathogenic
11	108250898	C	A	C108250898A	ATM	NM_000051.4(ATM):c.1433C>A:p.Ser478Ter	coding	Pathogenic
11	108250907	T	G	T108250907G	ATM	NM_000051.3(ATM):c.1442T>G:p.Leu481Ter	coding	Pathogenic/Likely_pathogenic
11	108250928	G	A	G108250928A	ATM	NM_000051.3(ATM):c.1463G>A:p.Trp488Ter	coding	Pathogenic
11	108250960	C	T	C108250960T	ATM	NM_000051.4(ATM):c.1495C>T:p.Gln499Ter	coding	Pathogenic
11	108250966	C	T	C108250966T	ATM	NM_000051.3(ATM):c.1501C>T:p.Gln501Ter	coding	Pathogenic
11	108251002	C	T	C108251002T	ATM	NM_000051.3(ATM):c.1537C>T:p.Gln513Ter	coding	Pathogenic
11	108251006	G	A	G108251006A	ATM	NM_000051.3(ATM):c.1541G>A:p.Gly514Asp	coding	Benign/Likely_benign
11	108251012	T	A	T108251012A	ATM	NM_000051.3(ATM):c.1547T>A:p.Leu516Ter	coding	Pathogenic
11	108251012	T	G	T108251012G	ATM	NM_000051.3(ATM):c.1547T>G:p.Leu516Ter	coding	Pathogenic
11	108251029	G	T	G108251029T	ATM	NM_000051.4(ATM):c.1564G>T:p.Glu522Ter	coding	Pathogenic
11	108251036	G	A	G108251036A	ATM	NM_000051.4(ATM):c.1571G>A:p.Trp524Ter	coding	Pathogenic
11	108251038	A	T	A108251038T	ATM	NM_000051.3(ATM):c.1573A>T:p.Lys525Ter	coding	Pathogenic
11	108251073	G	A	G108251073A	ATM	NM_000051.4(ATM):c.1607+1G>A	coding	Pathogenic/Likely_pathogenic
11	108251073	G	T	G108251073T	ATM	NM_000051.3(ATM):c.1607+1G>T	coding	Pathogenic/Likely_pathogenic
11	108251818	G	T	G108251818T	ATM	NM_000051.3(ATM):c.1608-19G>T	noncoding	Benign/Likely_benign
11	108251865	C	G	C108251865G	ATM	NM_000051.3(ATM):c.1636C>G:p.Leu546Val	coding	Benign/Likely_benign
11	108251966	G	A	G108251966A	ATM	NM_000051.3(ATM):c.1737G>A:p.Trp579Ter	coding	Pathogenic
11	108251973	T	C	T108251973C	ATM	NM_000051.3(ATM):c.1744T>C:p.Phe582Leu	coding	Benign/Likely_benign
11	108251979	C	T	C108251979T	ATM	NM_000051.4(ATM):c.1750C>T:p.Gln584Ter	coding	Pathogenic
11	108251997	G	T	G108251997T	ATM	NM_000051.3(ATM):c.1768G>T:p.Glu590Ter	coding	Pathogenic
11	108252002	T	C	T108252002C	ATM	NM_000051.3(ATM):c.1773T>C:p.Asn591=	coding	Benign/Likely_benign
11	108252009	G	T	G108252009T	ATM	NM_000051.4(ATM):c.1780G>T:p.Glu594Ter	coding	Pathogenic
11	108252913	G	A	G108252913A	ATM	NM_000051.3(ATM):c.1898+1G>A	coding	Pathogenic
11	108252913	G	T	G108252913T	ATM	NM_000051.3(ATM):c.1898+1G>T	coding	Pathogenic/Likely_pathogenic
11	108252914	T	G	T108252914G	ATM	NM_000051.3(ATM):c.1898+2T>G	noncoding	Pathogenic/Likely_pathogenic
11	108253759	T	G	T108253759G	ATM	NM_000051.3(ATM):c.1899-55T>G	noncoding	Benign
11	108253833	A	T	A108253833T	ATM	NM_000051.3(ATM):c.1918A>T:p.Lys640Ter	coding	Pathogenic/Likely_pathogenic
11	108253846	C	A	C108253846A	ATM	NM_000051.3(ATM):c.1931C>A:p.Ser644Ter	coding	Pathogenic/Likely_pathogenic
11	108253846	C	G	C108253846G	ATM	NM_000051.3(ATM):c.1931C>G:p.Ser644Ter	coding	Pathogenic
11	108253852	C	A	C108253852A	ATM	NM_000051.4(ATM):c.1937C>A:p.Ser646Ter	coding	Pathogenic
11	108253852	C	G	C108253852G	ATM	NM_000051.4(ATM):c.1937C>G:p.Ser646Ter	coding	Pathogenic
11	108253854	G	T	G108253854T	ATM	NM_000051.3(ATM):c.1939G>T:p.Glu647Ter	coding	Pathogenic
11	108253868	A	G	A108253868G	ATM	NM_000051.3(ATM):c.1953A>G:p.Leu651=	coding	Benign/Likely_benign
11	108253875	C	T	C108253875T	ATM	NM_000051.3(ATM):c.1960C>T:p.Gln654Ter	coding	Pathogenic/Likely_pathogenic
11	108253934	G	A	G108253934A	ATM	NM_000051.3(ATM):c.2019G>A:p.Lys673=	coding	Benign/Likely_benign
11	108253938	C	T	C108253938T	ATM	NM_000051.3(ATM):c.2023C>T:p.Gln675Ter	coding	Pathogenic/Likely_pathogenic
11	108253955	C	T	C108253955T	ATM	NM_000051.3(ATM):c.2040C>T:p.Phe680=	coding	Benign/Likely_benign
11	108253965	C	T	C108253965T	ATM	NM_000051.3(ATM):c.2050C>T:p.Gln684Ter	coding	Pathogenic
11	108254005	T	G	T108254005G	ATM	NM_000051.4(ATM):c.2090T>G:p.Leu697Ter	coding	Pathogenic
11	108254013	C	T	C108254013T	ATM	NM_000051.3(ATM):c.2098C>T:p.Gln700Ter	coding	Pathogenic/Likely_pathogenic
11	108256217	T	C	T108256217C	ATM	NM_000051.3(ATM):c.2127T>C:p.Ile709=	coding	Benign/Likely_benign
11	108256246	C	A	C108256246A	ATM	NM_000051.4(ATM):c.2156C>A:p.Ser719Ter	coding	Pathogenic
11	108256277	C	T	C108256277T	ATM	NM_000051.3(ATM):c.2187C>T:p.Tyr729=	coding	Benign/Likely_benign
11	108256283	C	A	C108256283A	ATM	NM_000051.3(ATM):c.2193C>A:p.Tyr731Ter	coding	Pathogenic
11	108256283	C	T	C108256283T	ATM	NM_000051.3(ATM):c.2193C>T:p.Tyr731=	coding	Benign
11	108256313	T	A	T108256313A	ATM	NM_000051.4(ATM):c.2223T>A:p.Tyr741Ter	coding	Pathogenic
11	108256313	T	G	T108256313G	ATM	NM_000051.4(ATM):c.2223T>G:p.Tyr741Ter	coding	Pathogenic
11	108256318	C	G	C108256318G	ATM	NM_000051.4(ATM):c.2228C>G:p.Ser743Ter	coding	Pathogenic
11	108256329	C	T	C108256329T	ATM	NM_000051.4(ATM):c.2239C>T:p.Gln747Ter	coding	Pathogenic
11	108256340	G	A	G108256340A	ATM	NM_000051.3(ATM):c.2250G>A:p.Lys750=	coding	Pathogenic/Likely_pathogenic
11	108256362	A	C	A108256362C	ATM	NM_000051.3(ATM):c.2250+22A>C	noncoding	Benign
11	108256374	A	C	A108256374C	ATM	NM_000051.3(ATM):c.2250+34A>C	noncoding	Benign
11	108257480	G	C	G108257480C	ATM	NM_000051.3(ATM):c.2251-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108257502	G	T	G108257502T	ATM	NM_000051.3(ATM):c.2272G>T:p.Glu758Ter	coding	Pathogenic
11	108257538	G	T	G108257538T	ATM	NM_000051.3(ATM):c.2308G>T:p.Glu770Ter	coding	Pathogenic
11	108257571	C	T	C108257571T	ATM	NM_000051.3(ATM):c.2341C>T:p.Gln781Ter	coding	Pathogenic
11	108257592	A	C	A108257592C	ATM	NM_000051.3(ATM):c.2362A>C:p.Ser788Arg	coding	Benign/Likely_benign
11	108257607	G	T	G108257607T	ATM	NM_000051.3(ATM):c.2376+1G>T	coding	Pathogenic/Likely_pathogenic
11	108257626	G	C	G108257626C	ATM	NM_000051.3(ATM):c.2376+20G>C	noncoding	Benign/Likely_benign
11	108259022	C	T	C108259022T	ATM	NM_000051.4(ATM):c.2413C>T:p.Arg805Ter	coding	Pathogenic
11	108259035	C	A	C108259035A	ATM	NM_000051.3(ATM):c.2426C>A:p.Ser809Ter	coding	Pathogenic
11	108259051	C	A	C108259051A	ATM	NM_000051.3(ATM):c.2442C>A:p.Asp814Glu	coding	Benign/Likely_benign
11	108259074	T	A	T108259074A	ATM	NM_000051.3(ATM):c.2465T>A:p.Leu822Ter	coding	Pathogenic
11	108259074	T	G	T108259074G	ATM	NM_000051.4(ATM):c.2465T>G:p.Leu822Ter	coding	Pathogenic
11	108259076	G	A	G108259076A	ATM	NM_000051.3(ATM):c.2466+1G>A	coding	Pathogenic
11	108259082	A	G	A108259082G	ATM	NM_000051.3(ATM):c.2466+7A>G	noncoding	Benign/Likely_benign
11	108267201	G	T	G108267201T	ATM	NM_000051.3(ATM):c.2497G>T:p.Gly833Ter	coding	Pathogenic
11	108267204	G	T	G108267204T	ATM	NM_000051.3(ATM):c.2500G>T:p.Glu834Ter	coding	Pathogenic
11	108267252	G	T	G108267252T	ATM	NM_000051.3(ATM):c.2548G>T:p.Glu850Ter	coding	Pathogenic
11	108267258	C	T	C108267258T	ATM	NM_000051.3(ATM):c.2554C>T:p.Gln852Ter	coding	Pathogenic
11	108267281	C	T	C108267281T	ATM	NM_000051.3(ATM):c.2577C>T:p.Asn859=	coding	Benign/Likely_benign
11	108267287	C	A	C108267287A	ATM	NM_000051.3(ATM):c.2583C>A:p.Tyr861Ter	coding	Pathogenic/Likely_pathogenic
11	108267314	C	T	C108267314T	ATM	NM_000051.3(ATM):c.2610C>T:p.Asn870=	coding	Benign/Likely_benign
11	108267318	C	T	C108267318T	ATM	NM_000051.3(ATM):c.2614C>T:p.Pro872Ser	coding	Benign/Likely_benign
11	108267324	G	T	G108267324T	ATM	NM_000051.3(ATM):c.2620G>T:p.Glu874Ter	coding	Pathogenic
11	108267344	T	C	T108267344C	ATM	NM_000051.3(ATM):c.2638+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108268393	G	T	G108268393T	ATM	NM_000051.3(ATM):c.2639-17G>T	noncoding	Benign
11	108268425	T	G	T108268425G	ATM	NM_000051.3(ATM):c.2654T>G:p.Leu885Ter	coding	Pathogenic
11	108268438	T	A	T108268438A	ATM	NM_000051.4(ATM):c.2667T>A:p.Tyr889Ter	coding	Pathogenic
11	108268443	C	G	C108268443G	ATM	NM_000051.3(ATM):c.2672C>G:p.Ser891Ter	coding	Pathogenic
11	108268448	C	T	C108268448T	ATM	NM_000051.3(ATM):c.2677C>T:p.Gln893Ter	coding	Pathogenic
11	108268456	A	G	A108268456G	ATM	NM_000051.3(ATM):c.2685A>G:p.Leu895=	coding	Benign
11	108268464	T	G	T108268464G	ATM	NM_000051.3(ATM):c.2693T>G:p.Leu898Ter	coding	Pathogenic
11	108268505	C	T	C108268505T	ATM	NM_000051.3(ATM):c.2734C>T:p.Gln912Ter	coding	Pathogenic
11	108268560	T	G	T108268560G	ATM	NM_000051.3(ATM):c.2789T>G:p.Leu930Ter	coding	Pathogenic/Likely_pathogenic
11	108268576	G	T	G108268576T	ATM	NM_000051.3(ATM):c.2805G>T:p.Thr935=	coding	Benign/Likely_benign
11	108268618	C	G	C108268618G	ATM	NM_000051.3(ATM):c.2838+9C>G	noncoding	Benign/Likely_benign
11	108271102	C	A	C108271102A	ATM	NM_000051.3(ATM):c.2877C>A:p.Tyr959Ter	coding	Pathogenic
11	108271127	G	T	G108271127T	ATM	NM_000051.3(ATM):c.2902G>T:p.Glu968Ter	coding	Pathogenic
11	108271147	G	A	G108271147A	ATM	NM_000051.3(ATM):c.2921+1G>A	coding	Pathogenic/Likely_pathogenic
11	108271147	G	C	G108271147C	ATM	NM_000051.3(ATM):c.2921+1G>C	coding	Pathogenic/Likely_pathogenic
11	108271147	G	T	G108271147T	ATM	NM_000051.3(ATM):c.2921+1G>T	coding	Pathogenic/Likely_pathogenic
11	108271230	T	G	T108271230G	ATM	NM_000051.3(ATM):c.2922-21T>G	noncoding	Benign
11	108271250	G	A	G108271250A	ATM	NM_000051.4(ATM):c.2922-1G>A	noncoding	Pathogenic
11	108271269	T	A	T108271269A	ATM	NM_000051.4(ATM):c.2940T>A:p.Tyr980Ter	coding	Pathogenic
11	108271296	T	C	T108271296C	ATM	NM_000051.3(ATM):c.2967T>C:p.Thr989=	coding	Benign/Likely_benign
11	108271354	G	T	G108271354T	ATM	NM_000051.3(ATM):c.3025G>T:p.Glu1009Ter	coding	Pathogenic
11	108271372	C	T	C108271372T	ATM	NM_000051.3(ATM):c.3043C>T:p.Gln1015Ter	coding	Pathogenic
11	108271375	G	T	G108271375T	ATM	NM_000051.4(ATM):c.3046G>T:p.Gly1016Ter	coding	Pathogenic
11	108271378	C	T	C108271378T	ATM	NM_000051.3(ATM):c.3049C>T:p.Gln1017Ter	coding	Pathogenic/Likely_pathogenic
11	108271406	G	A	G108271406A	ATM	NM_000051.3(ATM):c.3077G>A:p.Trp1026Ter	coding	Pathogenic
11	108272455	C	T	C108272455T	ATM	NM_000051.3(ATM):c.3078-77C>T	noncoding	Benign
11	108272531	G	A	G108272531A	ATM	NM_000051.3(ATM):c.3078-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	108272532	G	A	G108272532A	ATM	NM_000051.3(ATM):c.3078G>A:p.Trp1026Ter	coding	Pathogenic
11	108272551	A	T	A108272551T	ATM	NM_000051.4(ATM):c.3097A>T:p.Lys1033Ter	coding	Pathogenic
11	108272572	A	G	A108272572G	ATM	NM_000051.3(ATM):c.3118A>G:p.Met1040Val	coding	Benign/Likely_benign
11	108272627	T	C	T108272627C	ATM	NM_000051.3(ATM):c.3153+20T>C	noncoding	Benign/Likely_benign
11	108272720	A	G	A108272720G	ATM	NM_000051.3(ATM):c.3154-2A>G	noncoding	Pathogenic
11	108272729	C	G	C108272729G	ATM	NM_000051.3(ATM):c.3161C>G:p.Pro1054Arg	coding	Benign/Likely_benign
11	108272735	C	A	C108272735A	ATM	NM_000051.3(ATM):c.3167C>A:p.Ser1056Ter	coding	Pathogenic
11	108272782	G	T	G108272782T	ATM	NM_000051.3(ATM):c.3214G>T:p.Glu1072Ter	coding	Pathogenic
11	108272818	C	T	C108272818T	ATM	NM_000051.3(ATM):c.3250C>T:p.Gln1084Ter	coding	Pathogenic
11	108272843	C	A	C108272843A	ATM	NM_000051.3(ATM):c.3275C>A:p.Ser1092Ter	coding	Pathogenic
11	108279476	C	T	C108279476T	ATM	NM_000051.3(ATM):c.3285-15C>T	noncoding	Benign/Likely_benign
11	108279489	A	G	A108279489G	ATM	NM_000051.3(ATM):c.3285-2A>G	noncoding	Pathogenic
11	108279498	C	T	C108279498T	ATM	NM_000051.4(ATM):c.3292C>T:p.Gln1098Ter	coding	Pathogenic
11	108279510	G	T	G108279510T	ATM	NM_000051.3(ATM):c.3304G>T:p.Gly1102Ter	coding	Pathogenic
11	108279526	T	A	T108279526A	ATM	NM_000051.3(ATM):c.3320T>A:p.Leu1107Ter	coding	Pathogenic
11	108279542	T	A	T108279542A	ATM	NM_000051.3(ATM):c.3336T>A:p.Pro1112=	coding	Benign/Likely_benign
11	108279544	T	A	T108279544A	ATM	NM_000051.4(ATM):c.3338T>A:p.Leu1113Ter	coding	Pathogenic
11	108279546	A	T	A108279546T	ATM	NM_000051.3(ATM):c.3340A>T:p.Lys1114Ter	coding	Pathogenic
11	108279555	C	T	C108279555T	ATM	NM_000051.3(ATM):c.3349C>T:p.Gln1117Ter	coding	Pathogenic
11	108279578	C	G	C108279578G	ATM	NM_000051.3(ATM):c.3372C>G:p.Tyr1124Ter	coding	Pathogenic/Likely_pathogenic
11	108279588	C	T	C108279588T	ATM	NM_000051.3(ATM):c.3382C>T:p.Gln1128Ter	coding	Pathogenic
11	108279589	A	G	A108279589G	ATM	NM_000051.3(ATM):c.3383A>G:p.Gln1128Arg	coding	Benign/Likely_benign
11	108279594	G	T	G108279594T	ATM	NM_000051.3(ATM):c.3388G>T:p.Gly1130Ter	coding	Pathogenic
11	108279625	T	C	T108279625C	ATM	NM_000051.3(ATM):c.3402+17T>C	noncoding	Benign/Likely_benign
11	108280980	T	A	T108280980A	ATM	NM_000051.3(ATM):c.3403-15T>A	noncoding	Benign/Likely_benign
11	108280981	A	T	A108280981T	ATM	NM_000051.3(ATM):c.3403-14A>T	noncoding	Benign
11	108280982	A	T	A108280982T	ATM	NM_000051.3(ATM):c.3403-13A>T	noncoding	Benign
11	108280986	C	T	C108280986T	ATM	NM_000051.3(ATM):c.3403-9C>T	noncoding	Benign
11	108281028	G	T	G108281028T	ATM	NM_000051.3(ATM):c.3436G>T:p.Glu1146Ter	coding	Pathogenic
11	108281043	A	T	A108281043T	ATM	NM_000051.3(ATM):c.3451A>T:p.Lys1151Ter	coding	Pathogenic
11	108281077	T	G	T108281077G	ATM	NM_000051.3(ATM):c.3485T>G:p.Leu1162Ter	coding	Pathogenic
11	108281103	C	T	C108281103T	ATM	NM_000051.3(ATM):c.3511C>T:p.Gln1171Ter	coding	Pathogenic
11	108281109	T	C	T108281109C	ATM	NM_000051.3(ATM):c.3517T>C:p.Leu1173=	coding	Benign/Likely_benign
11	108281133	A	T	A108281133T	ATM	NM_000051.3(ATM):c.3541A>T:p.Lys1181Ter	coding	Pathogenic/Likely_pathogenic
11	108281168	G	A	G108281168A	ATM	NM_000051.4(ATM):c.3576G>A:p.Lys1192=	coding	Pathogenic
11	108281855	C	T	C108281855T	ATM	NM_000051.3(ATM):c.3576+687C>T	noncoding	Benign
11	108282680	C	T	C108282680T	ATM	NM_000051.3(ATM):c.3577-30C>T	noncoding	Benign
11	108282752	G	T	G108282752T	ATM	NM_000051.3(ATM):c.3619G>T:p.Glu1207Ter	coding	Pathogenic
11	108282781	T	G	T108282781G	ATM	NM_000051.4(ATM):c.3648T>G:p.Tyr1216Ter	coding	Pathogenic
11	108282796	G	A	G108282796A	ATM	NM_000051.3(ATM):c.3663G>A:p.Trp1221Ter	coding	Pathogenic
11	108282806	C	T	C108282806T	ATM	NM_000051.3(ATM):c.3673C>T:p.Gln1225Ter	coding	Pathogenic
11	108282820	C	A	C108282820A	ATM	NM_000051.4(ATM):c.3687C>A:p.Tyr1229Ter	coding	Pathogenic
11	108282866	G	T	G108282866T	ATM	NM_000051.4(ATM):c.3733G>T:p.Glu1245Ter	coding	Pathogenic
11	108284226	G	C	G108284226C	ATM	NM_000051.3(ATM):c.3747-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108284236	T	A	T108284236A	ATM	NM_000051.3(ATM):c.3756T>A:p.Tyr1252Ter	coding	Pathogenic/Likely_pathogenic
11	108284236	T	G	T108284236G	ATM	NM_000051.4(ATM):c.3756T>G:p.Tyr1252Ter	coding	Pathogenic
11	108284244	T	A	T108284244A	ATM	NM_000051.4(ATM):c.3764T>A:p.Leu1255Ter	coding	Pathogenic
11	108284264	A	T	A108284264T	ATM	NM_000051.4(ATM):c.3784A>T:p.Arg1262Ter	coding	Pathogenic
11	108284316	G	A	G108284316A	ATM	NM_000051.3(ATM):c.3836G>A:p.Trp1279Ter	coding	Pathogenic
11	108284345	A	T	A108284345T	ATM	NM_000051.3(ATM):c.3865A>T:p.Lys1289Ter	coding	Pathogenic
11	108284411	C	T	C108284411T	ATM	NM_000051.3(ATM):c.3931C>T:p.Gln1311Ter	coding	Pathogenic
11	108284460	T	G	T108284460G	ATM	NM_000051.3(ATM):c.3980T>G:p.Leu1327Ter	coding	Pathogenic
11	108284471	C	T	C108284471T	ATM	NM_000051.4(ATM):c.3991C>T:p.Gln1331Ter	coding	Pathogenic
11	108284474	G	A	G108284474A	ATM	NM_000051.3(ATM):c.3993+1G>A	coding	Pathogenic/Likely_pathogenic
11	108284478	G	T	G108284478T	ATM	NM_000051.3(ATM):c.3993+5G>T	noncoding	Benign/Likely_benign
11	108287407	T	C	T108287407C	ATM	NM_000051.3(ATM):c.3994-193T>C	noncoding	Benign
11	108287503	G	A	G108287503A	ATM	NM_000051.3(ATM):c.3994-97G>A	noncoding	Benign
11	108287598	A	G	A108287598G	ATM	NM_000051.3(ATM):c.3994-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	108287610	T	A	T108287610A	ATM	NM_000051.4(ATM):c.4004T>A:p.Leu1335Ter	coding	Pathogenic
11	108287625	T	A	T108287625A	ATM	NM_000051.4(ATM):c.4019T>A:p.Leu1340Ter	coding	Pathogenic
11	108287642	G	T	G108287642T	ATM	NM_000051.3(ATM):c.4036G>T:p.Glu1346Ter	coding	Pathogenic
11	108287646	T	A	T108287646A	ATM	NM_000051.3(ATM):c.4040T>A:p.Leu1347Ter	coding	Pathogenic
11	108287648	T	C	T108287648C	ATM	NM_000051.3(ATM):c.4042T>C:p.Leu1348=	coding	Benign
11	108287656	G	A	G108287656A	ATM	NM_000051.3(ATM):c.4050G>A:p.Thr1350=	coding	Benign/Likely_benign
11	108287658	T	A	T108287658A	ATM	NM_000051.3(ATM):c.4052T>A:p.Leu1351Ter	coding	Pathogenic
11	108287687	C	T	C108287687T	ATM	NM_000051.3(ATM):c.4081C>T:p.Gln1361Ter	coding	Pathogenic
11	108287712	C	A	C108287712A	ATM	NM_000051.3(ATM):c.4106C>A:p.Ser1369Ter	coding	Pathogenic/Likely_pathogenic
11	108287724	A	C	A108287724C	ATM	NM_000051.3(ATM):c.4109+9A>C	noncoding	Benign
11	108288976	G	A	G108288976A	ATM	NM_000051.3(ATM):c.4110-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	108289005	C	T	C108289005T	ATM	NM_000051.3(ATM):c.4138C>T:p.His1380Tyr	coding	Benign
11	108289013	A	G	A108289013G	ATM	NM_000051.3(ATM):c.4146A>G:p.Pro1382=	coding	Benign/Likely_benign
11	108289015	C	A	C108289015A	ATM	NM_000051.3(ATM):c.4148C>A:p.Ser1383Ter	coding	Pathogenic/Likely_pathogenic
11	108289034	A	G	A108289034G	ATM	NM_000051.3(ATM):c.4167A>G:p.Thr1389=	coding	Benign/Likely_benign
11	108289065	A	T	A108289065T	ATM	NM_000051.3(ATM):c.4198A>T:p.Lys1400Ter	coding	Pathogenic
11	108289069	T	A	T108289069A	ATM	NM_000051.3(ATM):c.4202T>A:p.Leu1401Ter	coding	Pathogenic
11	108289114	A	G	A108289114G	ATM	NM_000051.3(ATM):c.4236+11A>G	noncoding	Benign/Likely_benign
11	108289614	A	T	A108289614T	ATM	NM_000051.4(ATM):c.4249A>T:p.Lys1417Ter	coding	Pathogenic
11	108289668	A	T	A108289668T	ATM	NM_000051.3(ATM):c.4303A>T:p.Lys1435Ter	coding	Pathogenic
11	108289683	A	T	A108289683T	ATM	NM_000051.3(ATM):c.4318A>T:p.Lys1440Ter	coding	Pathogenic/Likely_pathogenic
11	108289708	T	G	T108289708G	ATM	NM_000051.4(ATM):c.4343T>G:p.Leu1448Ter	coding	Pathogenic
11	108289735	T	G	T108289735G	ATM	NM_000051.3(ATM):c.4370T>G:p.Leu1457Ter	coding	Pathogenic/Likely_pathogenic
11	108289748	G	A	G108289748A	ATM	NM_000051.3(ATM):c.4383G>A:p.Trp1461Ter	coding	Pathogenic
11	108289761	C	T	C108289761T	ATM	NM_000051.4(ATM):c.4396C>T:p.Arg1466Ter	coding	Pathogenic
11	108289780	T	A	T108289780A	ATM	NM_000051.3(ATM):c.4415T>A:p.Leu1472Ter	coding	Pathogenic
11	108289797	C	T	C108289797T	ATM	NM_000051.3(ATM):c.4432C>T:p.Gln1478Ter	coding	Pathogenic
11	108289803	T	C	T108289803C	ATM	NM_000051.3(ATM):c.4436+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108292618	G	C	G108292618C	ATM	NM_000051.3(ATM):c.4437-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108292642	C	G	C108292642G	ATM	NM_000051.4(ATM):c.4460C>G:p.Ser1487Ter	coding	Pathogenic
11	108292675	T	G	T108292675G	ATM	NM_000051.3(ATM):c.4493T>G:p.Leu1498Ter	coding	Pathogenic
11	108292689	C	T	C108292689T	ATM	NM_000051.3(ATM):c.4507C>T:p.Gln1503Ter	coding	Pathogenic/Likely_pathogenic
11	108292706	C	A	C108292706A	ATM	NM_000051.4(ATM):c.4524C>A:p.Tyr1508Ter	coding	Pathogenic
11	108292760	C	T	C108292760T	ATM	NM_000051.4(ATM):c.4578C>T:p.Pro1526=	coding	Benign/Likely_benign
11	108292769	T	G	T108292769G	ATM	NM_000051.4(ATM):c.4587T>G:p.Tyr1529Ter	coding	Pathogenic
11	108292770	G	T	G108292770T	ATM	NM_000051.3(ATM):c.4588G>T:p.Glu1530Ter	coding	Pathogenic/Likely_pathogenic
11	108292773	C	T	C108292773T	ATM	NM_000051.4(ATM):c.4591C>T:p.Gln1531Ter	coding	Pathogenic
11	108292791	C	T	C108292791T	ATM	NM_000051.3(ATM):c.4609C>T:p.Gln1537Ter	coding	Pathogenic
11	108293191	G	T	G108293191T	ATM	NM_000051.3(ATM):c.4612-122G>T	noncoding	Benign
11	108293294	C	T	C108293294T	ATM	NM_000051.3(ATM):c.4612-19C>T	noncoding	Benign
11	108293300	A	T	A108293300T	ATM	NM_000051.3(ATM):c.4612-13A>T	noncoding	Benign
11	108293301	A	T	A108293301T	ATM	NM_000051.3(ATM):c.4612-12A>T	noncoding	Benign
11	108293302	A	T	A108293302T	ATM	NM_000051.3(ATM):c.4612-11A>T	noncoding	Benign
11	108293327	G	A	G108293327A	ATM	NM_000051.3(ATM):c.4626G>A:p.Leu1542=	coding	Benign/Likely_benign
11	108293369	T	G	T108293369G	ATM	NM_000051.4(ATM):c.4668T>G:p.Tyr1556Ter	coding	Pathogenic
11	108293436	C	T	C108293436T	ATM	NM_000051.3(ATM):c.4735C>T:p.Gln1579Ter	coding	Pathogenic/Likely_pathogenic
11	108293475	G	T	G108293475T	ATM	NM_000051.3(ATM):c.4774G>T:p.Glu1592Ter	coding	Pathogenic
11	108293478	G	T	G108293478T	ATM	NM_000051.3(ATM):c.4776+1G>T	coding	Pathogenic/Likely_pathogenic
11	108293479	T	A	T108293479A	ATM	NM_000051.3(ATM):c.4776+2T>A	noncoding	Pathogenic/Likely_pathogenic
11	108293479	T	C	T108293479C	ATM	NM_000051.4(ATM):c.4776+2T>C	noncoding	Pathogenic
11	108294907	A	G	A108294907G	ATM	NM_000051.3(ATM):c.4777-20A>G	noncoding	Benign
11	108294946	C	G	C108294946G	ATM	NM_000051.4(ATM):c.4796C>G:p.Ser1599Ter	coding	Pathogenic
11	108295002	C	T	C108295002T	ATM	NM_000051.3(ATM):c.4852C>T:p.Arg1618Ter	coding	Pathogenic
11	108295029	C	T	C108295029T	ATM	NM_000051.3(ATM):c.4879C>T:p.Gln1627Ter	coding	Pathogenic/Likely_pathogenic
11	108295056	C	T	C108295056T	ATM	NM_000051.3(ATM):c.4906C>T:p.Gln1636Ter	coding	Pathogenic
11	108295060	G	A	G108295060A	ATM	NM_000051.3(ATM):c.4909+1G>A	coding	Pathogenic
11	108295060	G	T	G108295060T	ATM	NM_000051.3(ATM):c.4909+1G>T	coding	Pathogenic
11	108297131	T	A	T108297131A	ATM	NM_000051.3(ATM):c.4910-156T>A	noncoding	Benign
11	108297326	A	G	A108297326G	ATM	NM_000051.3(ATM):c.4949A>G:p.Asn1650Ser	coding	Benign/Likely_benign
11	108297334	C	T	C108297334T	ATM	NM_000051.3(ATM):c.4957C>T:p.Gln1653Ter	coding	Pathogenic
11	108297357	C	T	C108297357T	ATM	NM_000051.3(ATM):c.4980C>T:p.Asn1660=	coding	Benign/Likely_benign
11	108297367	G	T	G108297367T	ATM	NM_000051.4(ATM):c.4990G>T:p.Glu1664Ter	coding	Pathogenic
11	108297391	C	T	C108297391T	ATM	NM_000051.3(ATM):c.5005+9C>T	noncoding	Benign/Likely_benign
11	108297400	G	A	G108297400A	ATM	NM_000051.3(ATM):c.5005+18G>A	noncoding	Benign
11	108299752	G	C	G108299752C	ATM	NM_000051.3(ATM):c.5044G>C:p.Asp1682His	coding	Pathogenic
11	108299773	C	T	C108299773T	ATM	NM_000051.3(ATM):c.5065C>T:p.Gln1689Ter	coding	Pathogenic
11	108299886	G	A	G108299886A	ATM	NM_000051.3(ATM):c.5177+1G>A	coding	Pathogenic
11	108301658	C	T	C108301658T	ATM	NM_000051.3(ATM):c.5188C>T:p.Arg1730Ter	coding	Pathogenic/Likely_pathogenic
11	108301719	G	A	G108301719A	ATM	NM_000051.3(ATM):c.5249G>A:p.Trp1750Ter	coding	Pathogenic
11	108301779	C	G	C108301779G	ATM	NM_000051.3(ATM):c.5309C>G:p.Ser1770Ter	coding	Pathogenic
11	108302859	G	T	G108302859T	ATM	NM_000051.3(ATM):c.5326G>T:p.Glu1776Ter	coding	Pathogenic
11	108302947	G	A	G108302947A	ATM	NM_000051.3(ATM):c.5414G>A:p.Trp1805Ter	coding	Pathogenic/Likely_pathogenic
11	108303006	C	T	C108303006T	ATM	NM_000051.4(ATM):c.5473C>T:p.Gln1825Ter	coding	Pathogenic
11	108303030	G	T	G108303030T	ATM	NM_000051.3(ATM):c.5496+1G>T	coding	Pathogenic
11	108304667	T	C	T108304667C	ATM	NM_000051.3(ATM):c.5497-8T>C	noncoding	Benign/Likely_benign
11	108304673	A	C	A108304673C	ATM	NM_000051.3(ATM):c.5497-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	108304693	C	T	C108304693T	ATM	NM_000051.3(ATM):c.5515C>T:p.Gln1839Ter	coding	Pathogenic/Likely_pathogenic
11	108304727	T	A	T108304727A	ATM	NM_000051.3(ATM):c.5549T>A:p.Leu1850Ter	coding	Pathogenic
11	108304728	A	G	A108304728G	ATM	NM_000051.3(ATM):c.5550A>G:p.Leu1850=	coding	Benign/Likely_benign
11	108304732	C	T	C108304732T	ATM	NM_000051.3(ATM):c.5554C>T:p.Gln1852Ter	coding	Pathogenic/Likely_pathogenic
11	108304735	G	A	G108304735A	ATM	NM_000051.4(ATM):c.5557G>A:p.Asp1853Asn	coding	Benign
11	108304751	G	A	G108304751A	ATM	NM_000051.3(ATM):c.5573G>A:p.Trp1858Ter	coding	Pathogenic/Likely_pathogenic
11	108304801	C	T	C108304801T	ATM	NM_000051.3(ATM):c.5623C>T:p.Arg1875Ter	coding	Pathogenic
11	108304822	C	T	C108304822T	ATM	NM_000051.3(ATM):c.5644C>T:p.Arg1882Ter	coding	Pathogenic/Likely_pathogenic
11	108307914	C	T	C108307914T	ATM	NM_000051.3(ATM):c.5692C>T:p.Arg1898Ter	coding	Pathogenic
11	108307915	G	A	G108307915A	ATM	NM_000051.3(ATM):c.5693G>A:p.Arg1898Gln	coding	Benign/Likely_benign
11	108307919	C	A	C108307919A	ATM	NM_000051.3(ATM):c.5697C>A:p.Cys1899Ter	coding	Pathogenic
11	108307977	C	T	C108307977T	ATM	NM_000051.4(ATM):c.5755C>T:p.Gln1919Ter	coding	Pathogenic
11	108310168	C	A	C108310168A	ATM	NM_000051.3(ATM):c.5771C>A:p.Ser1924Ter	coding	Pathogenic
11	108310190	T	C	T108310190C	ATM	NM_000051.4(ATM):c.5793T>C:p.Ala1931=	coding	Benign/Likely_benign
11	108310195	G	A	G108310195A	ATM	NM_000051.3(ATM):c.5798G>A:p.Trp1933Ter	coding	Pathogenic/Likely_pathogenic
11	108310287	A	T	A108310287T	ATM	NM_000051.3(ATM):c.5890A>T:p.Lys1964Ter	coding	Pathogenic/Likely_pathogenic
11	108310305	C	T	C108310305T	ATM	NM_000051.3(ATM):c.5908C>T:p.Gln1970Ter	coding	Pathogenic
11	108312424	G	T	G108312424T	ATM	NM_000051.3(ATM):c.5932G>T:p.Glu1978Ter	coding	Pathogenic
11	108312427	G	T	G108312427T	ATM	NM_000051.3(ATM):c.5935G>T:p.Glu1979Ter	coding	Pathogenic
11	108312436	C	T	C108312436T	ATM	NM_000051.3(ATM):c.5944C>T:p.Gln1982Ter	coding	Pathogenic
11	108312440	G	A	G108312440A	ATM	NM_000051.3(ATM):c.5948G>A:p.Ser1983Asn	coding	Benign
11	108312463	G	T	G108312463T	ATM	NM_000051.3(ATM):c.5971G>T:p.Glu1991Ter	coding	Pathogenic
11	108312472	A	T	A108312472T	ATM	NM_000051.3(ATM):c.5980A>T:p.Lys1994Ter	coding	Pathogenic
11	108312478	G	T	G108312478T	ATM;C11orf65	NM_000051.4(ATM):c.5986G>T:p.Glu1996Ter	coding	Pathogenic
11	108312494	T	G	T108312494G	ATM	NM_000051.3(ATM):c.6002T>G:p.Leu2001Ter	coding	Pathogenic
11	108312496	C	T	C108312496T	ATM	NM_000051.3(ATM):c.6004C>T:p.Gln2002Ter	coding	Pathogenic
11	108315789	C	T	C108315789T	ATM	NM_000051.3(ATM):c.6007-34C>T	noncoding	Benign
11	108315790	C	T	C108315790T	ATM	NM_000051.3(ATM):c.6007-33C>T	noncoding	Benign
11	108315793	C	T	C108315793T	ATM	NM_000051.3(ATM):c.6007-30C>T	noncoding	Benign
11	108315796	C	T	C108315796T	ATM	NM_000051.3(ATM):c.6007-27C>T	noncoding	Benign
11	108315843	C	A	C108315843A	ATM	NM_000051.4(ATM):c.6027C>A:p.Tyr2009Ter	coding	Pathogenic
11	108315843	C	G	C108315843G	ATM	NM_000051.3(ATM):c.6027C>G:p.Tyr2009Ter	coding	Pathogenic
11	108315856	G	T	G108315856T	ATM	NM_000051.3(ATM):c.6040G>T:p.Glu2014Ter	coding	Pathogenic/Likely_pathogenic
11	108315863	A	G	A108315863G	ATM	NM_000051.3(ATM):c.6047A>G:p.Asp2016Gly	coding	Pathogenic/Likely_pathogenic
11	108315898	C	T	C108315898T	ATM	NM_000051.3(ATM):c.6082C>T:p.Gln2028Ter	coding	Pathogenic
11	108315904	A	G	A108315904G	ATM	NM_000051.3(ATM):c.6088A>G:p.Ile2030Val	coding	Benign/Likely_benign
11	108315911	G	A	G108315911A	ATM	NM_000051.4(ATM):c.6095G>A:p.Arg2032Lys	coding	Pathogenic/Likely_pathogenic
11	108315926	T	C	T108315926C	ATM	NM_000051.3(ATM):c.6095+15T>C	noncoding	Benign
11	108316009	A	G	A108316009G	ATM	NM_000051.3(ATM):c.6096-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	108316015	C	T	C108316015T	ATM	NM_000051.3(ATM):c.6100C>T:p.Arg2034Ter	coding	Pathogenic/Likely_pathogenic
11	108316023	T	A	T108316023A	ATM	NM_000051.3(ATM):c.6108T>A:p.Tyr2036Ter	coding	Pathogenic
11	108316023	T	G	T108316023G	ATM	NM_000051.3(ATM):c.6108T>G:p.Tyr2036Ter	coding	Pathogenic
11	108316029	C	T	C108316029T	ATM	NM_000051.3(ATM):c.6114C>T:p.His2038=	coding	Benign/Likely_benign
11	108316030	G	T	G108316030T	ATM	NM_000051.3(ATM):c.6115G>T:p.Glu2039Ter	coding	Pathogenic
11	108316096	C	T	C108316096T	ATM	NM_000051.3(ATM):c.6181C>T:p.Gln2061Ter	coding	Pathogenic
11	108316111	C	T	C108316111T	ATM	NM_000051.4(ATM):c.6196C>T:p.Gln2066Ter	coding	Pathogenic
11	108316114	G	A	G108316114A	ATM	NM_000051.4(ATM):c.6198+1G>A	coding	Pathogenic/Likely_pathogenic
11	108316229	T	C	T108316229C	ATM	NM_000051.3(ATM):c.6198+116T>C	noncoding	Benign
11	108317372	G	T	G108317372T	ATM	NM_000051.3(ATM):c.6199-1G>T	noncoding	Pathogenic
11	108317374	C	A	C108317374A	ATM	NM_000051.3(ATM):c.6200C>A:p.Ala2067Asp	coding	Pathogenic/Likely_pathogenic
11	108317379	C	T	C108317379T	ATM	NM_001330368.2(C11orf65):c.641-8308G>A	coding	Pathogenic
11	108317386	T	A	T108317386A	ATM	NM_000051.4(ATM):c.6212T>A:p.Leu2071Ter	coding	Pathogenic
11	108317396	C	A	C108317396A	ATM	NM_000051.3(ATM):c.6222C>A:p.Cys2074Ter	coding	Pathogenic
11	108317409	G	A	G108317409A	ATM	NM_000051.3(ATM):c.6235G>A:p.Val2079Ile	coding	Benign/Likely_benign
11	108317421	G	T	G108317421T	ATM	NM_000051.4(ATM):c.6247G>T:p.Gly2083Ter	coding	Pathogenic
11	108317432	T	G	T108317432G	ATM	NM_000051.3(ATM):c.6258T>G:p.Tyr2086Ter	coding	Pathogenic
11	108317446	G	A	G108317446A	ATM	NM_000051.3(ATM):c.6272G>A:p.Trp2091Ter	coding	Pathogenic
11	108317463	G	T	G108317463T	ATM	NM_000051.3(ATM):c.6289G>T:p.Glu2097Ter	coding	Pathogenic
11	108317474	C	G	C108317474G	ATM	NM_000051.4(ATM):c.6300C>G:p.Tyr2100Ter	coding	Pathogenic
11	108317485	G	A	G108317485A	ATM	NM_000051.3(ATM):c.6311G>A:p.Trp2104Ter	coding	Pathogenic
11	108317486	G	A	G108317486A	ATM	NM_000051.3(ATM):c.6312G>A:p.Trp2104Ter	coding	Pathogenic/Likely_pathogenic
11	108317500	G	A	G108317500A	ATM	NM_000051.3(ATM):c.6326G>A:p.Trp2109Ter	coding	Pathogenic
11	108317501	G	A	G108317501A	ATM	NM_000051.3(ATM):c.6327G>A:p.Trp2109Ter	coding	Pathogenic
11	108317522	G	A	G108317522A	ATM	NM_000051.3(ATM):c.6347+1G>A	coding	Pathogenic/Likely_pathogenic
11	108319946	T	C	T108319946C	ATM	NM_000051.3(ATM):c.6348-8T>C	noncoding	Benign
11	108319993	C	G	C108319993G	ATM	NM_000051.4(ATM):c.6387C>G:p.Tyr2129Ter	coding	Pathogenic
11	108320003	C	T	C108320003T	ATM	NM_000051.3(ATM):c.6397C>T:p.Gln2133Ter	coding	Pathogenic
11	108320021	G	T	G108320021T	ATM	NM_000051.3(ATM):c.6415G>T:p.Glu2139Ter	coding	Pathogenic
11	108320043	G	C	G108320043C	ATM	NM_000051.3(ATM):c.6437G>C:p.Ser2146Thr	coding	Benign/Likely_benign
11	108320059	G	T	G108320059T	ATM	NM_000051.3(ATM):c.6452+1G>T	coding	Pathogenic
11	108321421	G	A	G108321421A	ATM	NM_000051.3(ATM):c.6572+1G>A	coding	Pathogenic/Likely_pathogenic
11	108321432	G	T	G108321432T	ATM	NM_000051.3(ATM):c.6572+12G>T	noncoding	Benign
11	108325274	C	T	C108325274T	ATM	NM_000051.3(ATM):c.6573-36C>T	noncoding	Benign
11	108325276	C	T	C108325276T	ATM	NM_000051.3(ATM):c.6573-34C>T	noncoding	Benign
11	108325279	G	T	G108325279T	ATM	NM_000051.3(ATM):c.6573-31G>T	noncoding	Benign
11	108325280	C	T	C108325280T	ATM	NM_000051.3(ATM):c.6573-30C>T	noncoding	Benign
11	108325284	C	A	C108325284A	ATM	NM_000051.3(ATM):c.6573-26C>A	noncoding	Benign
11	108325287	G	T	G108325287T	ATM	NM_000051.3(ATM):c.6573-23G>T	noncoding	Benign
11	108325323	A	T	A108325323T	ATM	NM_000051.3(ATM):c.6586A>T:p.Arg2196Ter	coding	Pathogenic/Likely_pathogenic
11	108325335	G	T	G108325335T	ATM	NM_000051.4(ATM):c.6598G>T:p.Glu2200Ter	coding	Pathogenic
11	108325343	T	A	T108325343A	ATM	NM_000051.4(ATM):c.6606T>A:p.Tyr2202Ter	coding	Pathogenic
11	108325352	G	A	G108325352A	ATM	NM_000051.3(ATM):c.6615G>A:p.Trp2205Ter	coding	Pathogenic
11	108325395	C	T	C108325395T	ATM	NM_000051.3(ATM):c.6658C>T:p.Gln2220Ter	coding	Pathogenic
11	108325416	C	T	C108325416T	ATM	NM_000051.4(ATM):c.6679C>T:p.Arg2227Cys	coding	Pathogenic
11	108325418	C	T	C108325418T	ATM	NM_000051.3(ATM):c.6681C>T:p.Arg2227=	coding	Benign/Likely_benign
11	108325443	G	T	G108325443T	ATM	NM_000051.4(ATM):c.6706G>T:p.Glu2236Ter	coding	Pathogenic
11	108325464	C	T	C108325464T	ATM	NM_000051.4(ATM):c.6727C>T:p.Gln2243Ter	coding	Pathogenic
11	108325494	A	T	A108325494T	ATM	NM_000051.4(ATM):c.6757A>T:p.Lys2253Ter	coding	Pathogenic
11	108325782	G	C	G108325782C	ATM	NM_000051.3(ATM):c.6807+238G>C	noncoding	Benign
11	108326036	C	A	C108326036A	ATM	NM_000051.3(ATM):c.6808-22C>A	noncoding	Benign
11	108326088	C	T	C108326088T	ATM	NM_000051.3(ATM):c.6838C>T:p.Gln2280Ter	coding	Pathogenic
11	108326093	C	G	C108326093G	ATM	NM_000051.3(ATM):c.6843C>G:p.Tyr2281Ter	coding	Pathogenic
11	108326154	A	T	A108326154T	ATM	NM_000051.4(ATM):c.6904A>T:p.Lys2302Ter	coding	Pathogenic
11	108326163	C	T	C108326163T	ATM	NM_000051.3(ATM):c.6913C>T:p.Gln2305Ter	coding	Pathogenic
11	108327664	T	C	T108327664C	ATM	NM_000051.3(ATM):c.6995T>C:p.Leu2332Pro	coding	Benign/Likely_benign
11	108327701	G	A	G108327701A	ATM	NM_000051.3(ATM):c.7032G>A:p.Trp2344Ter	coding	Pathogenic
11	108327707	A	T	A108327707T	ATM	NM_000051.3(ATM):c.7038A>T:p.Ala2346=	coding	Benign/Likely_benign
11	108327749	T	G	T108327749G	ATM	NM_000051.3(ATM):c.7080T>G:p.Tyr2360Ter	coding	Pathogenic
11	108327778	C	T	C108327778T	ATM	NM_000051.3(ATM):c.7089+20C>T	noncoding	Benign/Likely_benign
11	108329027	G	T	G108329027T	ATM	NM_000051.3(ATM):c.7096G>T:p.Glu2366Ter	coding	Pathogenic/Likely_pathogenic
11	108329097	C	G	C108329097G	ATM	NM_000051.3(ATM):c.7166C>G:p.Ser2389Ter	coding	Pathogenic/Likely_pathogenic
11	108329120	C	T	C108329120T	ATM	NM_000051.3(ATM):c.7189C>T:p.Gln2397Ter	coding	Pathogenic
11	108329125	C	A	C108329125A	ATM	NM_000051.3(ATM):c.7194C>A:p.Tyr2398Ter	coding	Pathogenic
11	108329135	G	T	G108329135T	ATM	NM_000051.4(ATM):c.7204G>T:p.Glu2402Ter	coding	Pathogenic
11	108329151	C	A	C108329151A	ATM	NM_000051.3(ATM):c.7220C>A:p.Ser2407Ter	coding	Pathogenic
11	108329155	G	A	G108329155A	ATM	NM_000051.3(ATM):c.7224G>A:p.Ser2408=	coding	Benign/Likely_benign
11	108329171	C	T	C108329171T	ATM	NM_000051.3(ATM):c.7240C>T:p.Gln2414Ter	coding	Pathogenic
11	108329199	A	G	A108329199G	ATM	NM_001330368.2(C11orf65):c.641-20128T>C	coding	Pathogenic
11	108329202	T	G	T108329202G	ATM	NM_000051.3(ATM):c.7271T>G:p.Val2424Gly	coding	Pathogenic/Likely_pathogenic
11	108330217	C	A	C108330217A	ATM	NM_000051.3(ATM):c.7311C>A:p.Tyr2437Ter	coding	Pathogenic
11	108330233	C	T	C108330233T	ATM	NM_000051.3(ATM):c.7327C>T:p.Arg2443Ter	coding	Pathogenic/Likely_pathogenic
11	108330275	G	T	G108330275T	ATM	NM_000051.4(ATM):c.7369G>T:p.Glu2457Ter	coding	Pathogenic
11	108330314	T	G	T108330314G	ATM	NM_000051.3(ATM):c.7408T>G:p.Tyr2470Asp	coding	Pathogenic/Likely_pathogenic
11	108330355	G	A	G108330355A	ATM	NM_000051.3(ATM):c.7449G>A:p.Trp2483Ter	coding	Pathogenic
11	108330362	C	T	C108330362T	ATM	NM_000051.3(ATM):c.7456C>T:p.Arg2486Ter	coding	Pathogenic/Likely_pathogenic
11	108330441	A	G	A108330441G	ATM	NM_000051.3(ATM):c.7515+20A>G	noncoding	Benign/Likely_benign
11	108331470	T	A	T108331470A	ATM	NM_000051.4(ATM):c.7542T>A:p.Tyr2514Ter	coding	Pathogenic
11	108331470	T	G	T108331470G	ATM	NM_000051.3(ATM):c.7542T>G:p.Tyr2514Ter	coding	Pathogenic
11	108331491	C	G	C108331491G	ATM	NM_000051.3(ATM):c.7563C>G:p.Tyr2521Ter	coding	Pathogenic
11	108331570	G	A	G108331570A	ATM	NM_000051.3(ATM):c.7629+13G>A	noncoding	Benign/Likely_benign
11	108331842	G	T	G108331842T	ATM	NM_000051.3(ATM):c.7630-37G>T	noncoding	Benign
11	108331850	G	T	G108331850T	ATM	NM_000051.3(ATM):c.7630-29G>T	noncoding	Benign
11	108331862	T	C	T108331862C	ATM	NM_000051.3(ATM):c.7630-17T>C	noncoding	Benign
11	108331877	A	C	A108331877C	ATM	NM_000051.4(ATM):c.7630-2A>C	noncoding	Pathogenic
11	108331877	A	G	A108331877G	ATM	NM_000051.3(ATM):c.7630-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	108331919	T	A	T108331919A	ATM	NM_000051.4(ATM):c.7670T>A:p.Leu2557Ter	coding	Pathogenic
11	108331957	G	T	G108331957T	ATM	NM_000051.3(ATM):c.7708G>T:p.Glu2570Ter	coding	Pathogenic/Likely_pathogenic
11	108331993	A	T	A108331993T	ATM	NM_000051.4(ATM):c.7744A>T:p.Arg2582Ter	coding	Pathogenic
11	108332017	C	T	C108332017T	ATM	NM_000051.3(ATM):c.7768C>T:p.Gln2590Ter	coding	Pathogenic
11	108332026	C	T	C108332026T	ATM	NM_000051.3(ATM):c.7777C>T:p.Gln2593Ter	coding	Pathogenic
11	108332037	G	A	G108332037A	ATM	NM_000051.3(ATM):c.7788G>A:p.Glu2596=	coding	Pathogenic/Likely_pathogenic
11	108332747	G	T	G108332747T	ATM	NM_000051.3(ATM):c.7789-15G>T	noncoding	Benign
11	108332759	T	G	T108332759G	ATM	NM_000051.4(ATM):c.7789-3T>G	noncoding	Pathogenic/Likely_pathogenic
11	108332765	C	T	C108332765T	ATM	NM_000051.3(ATM):c.7792C>T:p.Arg2598Ter	coding	Pathogenic/Likely_pathogenic
11	108332838	C	T	C108332838T	ATM	NM_000051.3(ATM):c.7865C>T:p.Ala2622Val	coding	Pathogenic/Likely_pathogenic
11	108332848	T	G	T108332848G	ATM	NM_001330368.2(C11orf65):c.641-23777A>C	coding	Pathogenic
11	108332849	G	C	G108332849C	ATM	NM_001330368.2(C11orf65):c.641-23778C>G	coding	Pathogenic
11	108332862	T	A	T108332862A	ATM	NM_000051.3(ATM):c.7889T>A:p.Leu2630Ter	coding	Pathogenic
11	108332886	G	A	G108332886A	ATM	NM_000051.4(ATM):c.7913G>A:p.Trp2638Ter	coding	Pathogenic/Likely_pathogenic
11	108332894	C	T	C108332894T	ATM	NM_000051.3(ATM):c.7921C>T:p.Gln2641Ter	coding	Pathogenic/Likely_pathogenic
11	108332910	T	C	T108332910C	ATM	NM_000051.3(ATM):c.7927+10T>C	noncoding	Benign/Likely_benign
11	108333909	C	T	C108333909T	ATM	NM_000051.3(ATM):c.7951C>T:p.Gln2651Ter	coding	Pathogenic/Likely_pathogenic
11	108333925	T	C	T108333925C	ATM	NM_001330368.2(C11orf65):c.641-24854A>G	coding	Pathogenic
11	108333941	T	C	T108333941C	ATM	NM_000051.3(ATM):c.7983T>C:p.Asp2661=	coding	Benign/Likely_benign
11	108334154	C	T	C108334154T	ATM	NM_000051.3(ATM):c.8010+186C>T	noncoding	Benign
11	108335008	C	T	C108335008T	ATM	NM_000051.3(ATM):c.8050C>T:p.Gln2684Ter	coding	Pathogenic
11	108335056	A	T	A108335056T	ATM	NM_000051.3(ATM):c.8098A>T:p.Lys2700Ter	coding	Pathogenic/Likely_pathogenic
11	108335080	G	A	G108335080A	ATM	NM_000051.3(ATM):c.8122G>A:p.Asp2708Asn	coding	Pathogenic/Likely_pathogenic
11	108335082	T	A	T108335082A	ATM	NM_000051.3(ATM):c.8124T>A:p.Asp2708Glu	coding	Pathogenic/Likely_pathogenic
11	108335098	C	T	C108335098T	ATM	NM_000051.3(ATM):c.8140C>T:p.Gln2714Ter	coding	Pathogenic
11	108335104	G	T	G108335104T	ATM	NM_000051.3(ATM):c.8146G>T:p.Val2716Phe	coding	Pathogenic/Likely_pathogenic
11	108335105	T	C	T108335105C	ATM	NM_000051.3(ATM):c.8147T>C:p.Val2716Ala	coding	Pathogenic/Likely_pathogenic
11	108335120	C	T	C108335120T	ATM	NM_000051.3(ATM):c.8151+11C>T	noncoding	Benign/Likely_benign
11	108335878	C	T	C108335878T	ATM	NM_000051.3(ATM):c.8185C>T:p.Gln2729Ter	coding	Pathogenic/Likely_pathogenic
11	108335881	C	T	C108335881T	ATM	NM_000051.4(ATM):c.8188C>T:p.Gln2730Ter	coding	Pathogenic
11	108335906	T	G	T108335906G	ATM	NM_000051.3(ATM):c.8213T>G:p.Leu2738Ter	coding	Pathogenic
11	108335911	C	T	C108335911T	ATM	NM_000051.3(ATM):c.8218C>T:p.Gln2740Ter	coding	Pathogenic
11	108335958	T	G	T108335958G	ATM	NM_000051.3(ATM):c.8265T>G:p.Tyr2755Ter	coding	Pathogenic
11	108335959	A	T	A108335959T	ATM	NM_000051.3(ATM):c.8266A>T:p.Lys2756Ter	coding	Pathogenic/Likely_pathogenic
11	108343208	A	T	A108343208T	ATM	NM_000051.3(ATM):c.8269-14A>T	noncoding	Benign/Likely_benign
11	108343237	C	T	C108343237T	ATM	NM_000051.3(ATM):c.8284C>T:p.Gln2762Ter	coding	Pathogenic
11	108343240	C	T	C108343240T	ATM	NM_000051.3(ATM):c.8287C>T:p.Arg2763Ter	coding	Pathogenic
11	108343246	G	A	G108343246A	ATM	NM_000051.3(ATM):c.8293G>A:p.Gly2765Ser	coding	Pathogenic/Likely_pathogenic
11	108343255	G	T	G108343255T	ATM	NM_000051.4(ATM):c.8302G>T:p.Glu2768Ter	coding	Pathogenic
11	108343260	G	A	G108343260A	ATM	NM_000051.3(ATM):c.8307G>A:p.Trp2769Ter	coding	Pathogenic/Likely_pathogenic
11	108343326	C	A	C108343326A	ATM	NM_000051.3(ATM):c.8373C>A:p.Tyr2791Ter	coding	Pathogenic
11	108343326	C	G	C108343326G	ATM	NM_000051.3(ATM):c.8373C>G:p.Tyr2791Ter	coding	Pathogenic
11	108343356	C	A	C108343356A	ATM	NM_000051.3(ATM):c.8403C>A:p.Cys2801Ter	coding	Pathogenic
11	108343384	C	T	C108343384T	ATM	NM_000051.3(ATM):c.8418+13C>T	noncoding	Benign/Likely_benign
11	108345724	A	G	A108345724G	ATM	NM_000051.3(ATM):c.8419-19A>G	noncoding	Benign/Likely_benign
11	108345743	G	T	G108345743T	ATM	NM_000051.3(ATM):c.8419G>T:p.Glu2807Ter	coding	Pathogenic
11	108345749	C	T	C108345749T	ATM	NM_000051.3(ATM):c.8425C>T:p.Gln2809Ter	coding	Pathogenic/Likely_pathogenic
11	108345755	A	T	A108345755T	ATM	NM_000051.3(ATM):c.8431A>T:p.Lys2811Ter	coding	Pathogenic
11	108345797	C	T	C108345797T	ATM	NM_000051.3(ATM):c.8473C>T:p.Gln2825Ter	coding	Pathogenic
11	108345806	C	T	C108345806T	ATM	NM_000051.4(ATM):c.8482C>T:p.Gln2828Ter	coding	Pathogenic
11	108345818	C	T	C108345818T	ATM	NM_000051.4(ATM):c.8494C>T:p.Arg2832Cys	coding	Pathogenic/Likely_pathogenic
11	108345829	C	A	C108345829A	ATM	NM_000051.3(ATM):c.8505C>A:p.Cys2835Ter	coding	Pathogenic/Likely_pathogenic
11	108345869	C	T	C108345869T	ATM	NM_000051.3(ATM):c.8545C>T:p.Arg2849Ter	coding	Pathogenic
11	108345873	T	A	T108345873A	ATM	NM_000051.3(ATM):c.8549T>A:p.Leu2850Ter	coding	Pathogenic/Likely_pathogenic
11	108345910	T	C	T108345910C	ATM	NM_000051.3(ATM):c.8584+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108347050	A	T	A108347050T	ATM	NM_000051.3(ATM):c.8585-229A>T	noncoding	Benign
11	108347277	A	C	A108347277C	ATM	NM_000051.3(ATM):c.8585-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	108347286	C	T	C108347286T	ATM	NM_000051.3(ATM):c.8592C>T:p.Tyr2864=	coding	Benign/Likely_benign
11	108347314	C	T	C108347314T	ATM	NM_000051.4(ATM):c.8620C>T:p.Gln2874Ter	coding	Pathogenic
11	108347323	T	C	T108347323C	ATM	NM_000051.3(ATM):c.8629T>C:p.Leu2877=	coding	Benign/Likely_benign
11	108347335	C	T	C108347335T	ATM	NM_000051.3(ATM):c.8641C>T:p.Gln2881Ter	coding	Pathogenic
11	108353765	G	C	G108353765C	ATM	NM_000051.3(ATM):c.8672-1G>C	noncoding	Pathogenic
11	108353819	A	T	A108353819T	ATM	NM_000051.3(ATM):c.8725A>T:p.Arg2909Ter	coding	Pathogenic/Likely_pathogenic
11	108353824	C	G	C108353824G	ATM	NM_000051.3(ATM):c.8730C>G:p.Leu2910=	coding	Benign/Likely_benign
11	108353881	G	A	G108353881A	ATM	NM_000051.3(ATM):c.8786+1G>A	coding	Pathogenic/Likely_pathogenic
11	108353881	G	C	G108353881C	ATM	NM_000051.3(ATM):c.8786+1G>C	coding	Pathogenic
11	108353881	G	T	G108353881T	ATM	NM_000051.3(ATM):c.8786+1G>T	coding	Pathogenic/Likely_pathogenic
11	108353882	T	C	T108353882C	ATM	NM_000051.4(ATM):c.8786+2T>C	noncoding	Pathogenic
11	108353888	A	C	A108353888C	ATM	NM_000051.3(ATM):c.8786+8A>C	noncoding	Benign/Likely_benign
11	108353900	G	C	G108353900C	ATM	NM_000051.3(ATM):c.8786+20G>C	noncoding	Benign/Likely_benign
11	108354817	T	A	T108354817A	ATM	NM_000051.3(ATM):c.8793T>A:p.Cys2931Ter	coding	Pathogenic/Likely_pathogenic
11	108354848	C	T	C108354848T	ATM	NM_000051.3(ATM):c.8824C>T:p.Gln2942Ter	coding	Pathogenic
11	108364109	A	C	A108364109C	ATM	NM_000051.3(ATM):c.8851-973A>C	noncoding	Benign
11	108365110	G	A	G108365110A	ATM	NM_000051.3(ATM):c.8879G>A:p.Trp2960Ter	coding	Pathogenic
11	108365111	G	A	G108365111A	ATM	NM_000051.3(ATM):c.8880G>A:p.Trp2960Ter	coding	Pathogenic
11	108365134	T	A	T108365134A	ATM	NM_000051.3(ATM):c.8903T>A:p.Leu2968Ter	coding	Pathogenic
11	108365142	C	T	C108365142T	ATM	NM_000051.3(ATM):c.8911C>T:p.Gln2971Ter	coding	Pathogenic/Likely_pathogenic
11	108365153	G	A	G108365153A	ATM	NM_000051.3(ATM):c.8922G>A:p.Pro2974=	coding	Benign/Likely_benign
11	108365196	C	T	C108365196T	ATM	NM_000051.4(ATM):c.8965C>T:p.Gln2989Ter	coding	Pathogenic
11	108365208	C	T	C108365208T	ATM	NM_000051.4(ATM):c.8977C>T:p.Arg2993Ter	coding	Pathogenic/Likely_pathogenic
11	108365219	G	C	G108365219C	ATM	NM_000051.3(ATM):c.8987+1G>C	coding	Pathogenic
11	108365324	G	A	G108365324A	ATM	NM_000051.3(ATM):c.8988-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	108365324	G	C	G108365324C	ATM	NM_000051.3(ATM):c.8988-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108365335	C	T	C108365335T	ATM	NM_000051.3(ATM):c.8998C>T:p.Gln3000Ter	coding	Pathogenic/Likely_pathogenic
11	108365343	C	T	C108365343T	ATM	NM_000051.3(ATM):c.9006C>T:p.Phe3002=	coding	Benign/Likely_benign
11	108365356	G	T	G108365356T	ATM	NM_000051.3(ATM):c.9019G>T:p.Glu3007Ter	coding	Pathogenic/Likely_pathogenic
11	108365359	C	T	C108365359T	ATM	NM_000051.4(ATM):c.9022C>T:p.Arg3008Cys	coding	Pathogenic/Likely_pathogenic
11	108365398	G	T	G108365398T	ATM	NM_000051.4(ATM):c.9061G>T:p.Glu3021Ter	coding	Pathogenic
11	108365428	C	T	C108365428T	ATM	NM_000051.4(ATM):c.9091C>T:p.Gln3031Ter	coding	Pathogenic/Likely_pathogenic
11	108365449	C	T	C108365449T	ATM	NM_000051.4(ATM):c.9112C>T:p.Gln3038Ter	coding	Pathogenic
11	108365476	C	T	C108365476T	ATM	NM_000051.3(ATM):c.9139C>T:p.Arg3047Ter	coding	Pathogenic
11	108366056	G	T	G108366056T	ATM	NM_000051.3(ATM):c.*548G>T	noncoding	Benign
11	108366059	T	C	T108366059C	ATM	NM_000051.3(ATM):c.*551T>C	noncoding	Benign
11	108366192	T	G	T108366192G	ATM	NM_000051.3(ATM):c.*684T>G	noncoding	Benign
11	108366935	T	C	T108366935C	ATM	NM_000051.3(ATM):c.*1427T>C	noncoding	Benign
11	108367307	C	T	C108367307T	ATM	NM_000051.4(ATM):c.*1799C>T	noncoding	Benign
11	108367588	C	T	C108367588T	ATM	NM_000051.3(ATM):c.*2080C>T	noncoding	Benign
11	108367707	C	G	C108367707G	ATM	NM_000051.3(ATM):c.*2199C>G	noncoding	Benign
11	108367728	A	G	A108367728G	ATM	NM_000051.3(ATM):c.*2220A>G	noncoding	Benign
11	108368580	C	T	C108368580T	ATM	NM_000051.3(ATM):c.*3072C>T	noncoding	Benign
11	108368601	C	T	C108368601T	ATM	NM_000051.3(ATM):c.*3093C>T	noncoding	Benign
11	108368901	G	T	G108368901T	ATM	NM_000051.3(ATM):c.*3393G>T	noncoding	Benign
11	108368921	T	C	T108368921C	ATM	NM_000051.4(ATM):c.*3413T>C	noncoding	Benign
11	108509554	T	C	T108509554C	EXPH5	NM_015065.3(EXPH5):c.5953A>G:p.Lys1985Glu	coding	Benign
11	108509882	C	T	C108509882T	EXPH5	NM_015065.3(EXPH5):c.5625G>A:p.Arg1875=	coding	Benign
11	108509893	T	C	T108509893C	EXPH5	NM_015065.3(EXPH5):c.5614A>G:p.Thr1872Ala	coding	Benign
11	108510013	G	C	G108510013C	EXPH5	NM_015065.3(EXPH5):c.5494C>G:p.Arg1832Gly	coding	Benign
11	108510304	T	A	T108510304A	EXPH5	NM_015065.3(EXPH5):c.5203A>T:p.Ile1735Phe	coding	Benign
11	108510391	C	T	C108510391T	EXPH5	NM_015065.3(EXPH5):c.5116G>A:p.Val1706Ile	coding	Benign
11	108510451	G	T	G108510451T	EXPH5	NM_015065.3(EXPH5):c.5056C>A:p.His1686Asn	coding	Benign
11	108510523	T	C	T108510523C	EXPH5	NM_015065.3(EXPH5):c.4984A>G:p.Asn1662Asp	coding	Benign
11	108510601	T	A	T108510601A	EXPH5	NM_015065.3(EXPH5):c.4906A>T:p.Thr1636Ser	coding	Benign
11	108510614	A	G	A108510614G	EXPH5	NM_015065.3(EXPH5):c.4893T>C:p.His1631=	coding	Benign
11	108510629	T	C	T108510629C	EXPH5	NM_015065.3(EXPH5):c.4878A>G:p.Arg1626=	coding	Benign
11	108510789	T	A	T108510789A	EXPH5	NM_015065.3(EXPH5):c.4718A>T:p.Asn1573Ile	coding	Benign
11	108511118	G	A	G108511118A	EXPH5	NM_015065.3(EXPH5):c.4389C>T:p.Pro1463=	coding	Benign
11	108511480	T	C	T108511480C	EXPH5	NM_015065.3(EXPH5):c.4027A>G:p.Thr1343Ala	coding	Benign
11	108511560	A	G	A108511560G	EXPH5	NM_015065.3(EXPH5):c.3947T>C:p.Met1316Thr	coding	Benign
11	108511801	A	C	A108511801C	EXPH5	NM_015065.3(EXPH5):c.3706T>G:p.Ser1236Ala	coding	Benign
11	108512066	C	A	C108512066A	EXPH5	NM_015065.3(EXPH5):c.3441G>T:p.Met1147Ile	coding	Benign
11	108512067	A	G	A108512067G	EXPH5	NM_015065.3(EXPH5):c.3440T>C:p.Met1147Thr	coding	Benign
11	108513973	T	A	T108513973A	EXPH5	NM_015065.3(EXPH5):c.1534A>T:p.Met512Leu	coding	Benign
11	108514130	T	C	T108514130C	EXPH5	NM_015065.3(EXPH5):c.1377A>G:p.Arg459=	coding	Benign
11	108514310	G	A	G108514310A	EXPH5	NM_015065.3(EXPH5):c.1197C>T:p.Pro399=	coding	Benign
11	108528172	A	G	A108528172G	EXPH5	NM_015065.3(EXPH5):c.456T>C:p.His152=	coding	Benign
11	108539143	A	G	A108539143G	EXPH5	NM_015065.3(EXPH5):c.324T>C:p.Asn108=	coding	Benign
11	108679558	T	C	T108679558C	DDX10	NM_004398.4(DDX10):c.846T>C:p.Tyr282=	coding	Benign
11	108715890	A	G	A108715890G	DDX10	NM_004398.4(DDX10):c.1334A>G:p.Glu445Gly	coding	Benign
11	108723060	C	T	C108723060T	DDX10	NM_004398.4(DDX10):c.1563C>T:p.Thr521=	coding	Benign
11	110231889	C	T	C110231889T	RDX	NM_002906.3(RDX):c.1732G>A:p.Asp578Asn	coding	Pathogenic
11	110237635	G	A	G110237635A	RDX	NM_002906.4(RDX):c.1108C>T:p.Arg370Ter	coding	Pathogenic
11	110257766	C	T	C110257766T	RDX	NM_002906.3(RDX):c.698+1G>A	noncoding	Pathogenic
11	110258104	A	G	A110258104G	RDX	NM_002906.3(RDX):c.551+2T>C	noncoding	Pathogenic
11	110258269	C	G	C110258269G	RDX	NM_002906.3(RDX):c.468-80G>C	noncoding	Benign
11	110263964	G	A	G110263964A	RDX	NM_001260494.1(RDX):c.60-5775C>T	coding	Pathogenic
11	110457021	C	T	C110457021T	FDX1	NM_004109.5(FDX1):c.414C>T:p.Leu138=	coding	Benign
11	111357713	G	A	G111357713A	POU2AF1	NM_006235.3(POU2AF1):c.191-3C>T	noncoding	Benign
11	111357804	T	C	T111357804C	POU2AF1	NM_006235.3(POU2AF1):c.181A>G:p.Thr61Ala	coding	Benign
11	111358806	T	C	T111358806C	POU2AF1	NM_006235.3(POU2AF1):c.129A>G:p.Ala43=	coding	Benign
11	111358821	G	A	G111358821A	POU2AF1	NM_006235.3(POU2AF1):c.114C>T:p.His38=	coding	Benign
11	111498611	C	T	C111498611T	BTG4	NM_017589.4(BTG4):c.166G>A:p.Ala56Thr	coding	Pathogenic
11	111498704	G	A	G111498704A	BTG4	NM_017589.4(BTG4):c.73C>T:p.Gln25Ter	coding	Pathogenic
11	111498776	T	C	T111498776C	BTG4	NM_017589.4(BTG4):c.1A>G:p.Met1Val	coding	Pathogenic
11	111540883	G	A	G111540883A	LAYN	NM_001258390.1(LAYN):c.40G>A:p.Val14Met	coding	Benign
11	111544009	G	A	G111544009A	LAYN	NM_001258390.1(LAYN):c.196G>A:p.Glu66Lys	coding	Benign
11	111560325	C	T	C111560325T	LAYN	NM_001258390.1(LAYN):c.1016C>T:p.Ser339Leu	coding	Benign
11	111720918	A	G	A111720918G	SIK2	NM_015191.3(SIK2):c.1800A>G:p.Gln600=	coding	Benign
11	111764842	C	T	C111764842T	PPP2R1B	NM_002716.5(PPP2R1B):c.269G>A:p.Gly90Asp	coding	Pathogenic
11	111784549	C	T	C111784549T	ALG9	NM_024740.2(ALG9):c.*1848G>A	noncoding	Benign
11	111784726	A	G	A111784726G	ALG9	NM_024740.2(ALG9):c.*1671T>C	noncoding	Benign
11	111786460	G	A	G111786460A	ALG9	NM_024740.2(ALG9):c.1794C>T:p.Tyr598=	coding	Benign/Likely_benign
11	111786504	G	A	G111786504A	ALG9	NM_024740.2(ALG9):c.1750C>T:p.Arg584Trp	coding	Benign
11	111809772	A	C	A111809772C	ALG9	NM_024740.2(ALG9):c.1604T>G:p.Ile535Ser	coding	Benign/Likely_benign
11	111836179	C	T	C111836179T	ALG9	NM_024740.2(ALG9):c.1588G>A:p.Glu530Lys	coding	Pathogenic
11	111836217	C	A	C111836217A	ALG9	NM_024740.2(ALG9):c.1550G>T:p.Arg517Leu	coding	Benign
11	111836229	G	A	G111836229A	ALG9	NM_024740.2(ALG9):c.1538C>T:p.Pro513Leu	coding	Benign/Likely_benign
11	111836308	A	G	A111836308G	ALG9	NM_024740.2(ALG9):c.1473-14T>C	noncoding	Benign
11	111837608	G	A	G111837608A	ALG9	NM_024740.2(ALG9):c.1332C>T:p.His444=	coding	Benign
11	111840653	A	T	A111840653T	ALG9	NM_024740.2(ALG9):c.1173+2T>A	noncoding	Pathogenic
11	111840719	C	T	C111840719T	ALG9	NM_024740.2(ALG9):c.1109G>A:p.Arg370Lys	coding	Pathogenic
11	111844675	T	C	T111844675C	ALG9	NM_024740.2(ALG9):c.944A>G:p.Asn315Ser	coding	Benign
11	111853410	C	T	C111853410T	ALG9	NM_024740.2(ALG9):c.865G>A:p.Val289Ile	coding	Benign
11	111853415	T	C	T111853415C	ALG9	NM_024740.2(ALG9):c.860A>G:p.Tyr287Cys	coding	Pathogenic
11	111853436	G	A	G111853436A	ALG9	NM_024740.2(ALG9):c.839C>T:p.Ala280Val	coding	Benign
11	111853674	G	A	G111853674A	ALG9	NM_024740.2(ALG9):c.764C>T:p.Ser255Leu	coding	Benign/Likely_benign
11	111857622	C	T	C111857622T	ALG9	NM_024740.2(ALG9):c.681G>A:p.Trp227Ter	coding	Pathogenic
11	111865258	G	A	G111865258A	ALG9	NM_024740.2(ALG9):c.406-7C>T	noncoding	Benign
11	111870381	G	A	G111870381A	ALG9	NM_024740.2(ALG9):c.132-11C>T	noncoding	Benign
11	111870382	C	A	C111870382A	ALG9	NM_024740.2(ALG9):c.132-12G>T	noncoding	Benign
11	111870383	A	C	A111870383C	ALG9	NM_024740.2(ALG9):c.132-13T>G	noncoding	Benign
11	111871421	G	A	G111871421A	ALG9	NM_024740.2(ALG9):c.62C>T:p.Ala21Val	coding	Benign
11	111908841	G	A	G111908841A	CRYAB	NM_001289808.2(CRYAB):c.451C>T:p.Gln151Ter	coding	Pathogenic
11	111908874	C	T	C111908874T	CRYAB	NM_001289808.2(CRYAB):c.418G>A:p.Asp140Asn	coding	Pathogenic
11	111908934	T	C	T111908934C	CRYAB	NM_001289808.2(CRYAB):c.358A>G:p.Arg120Gly	coding	Pathogenic
11	111908967	C	G	C111908967G	CRYAB	NM_001289808.2(CRYAB):c.325G>C:p.Asp109His	coding	Pathogenic
11	111910113	G	A	G111910113A	CRYAB	NM_001289808.2(CRYAB):c.324+214C>T	noncoding	Benign
11	111910323	A	C	A111910323C	CRYAB	NM_001289808.2(CRYAB):c.324+4T>G	noncoding	Benign
11	111910331	C	A	C111910331A	CRYAB	NM_001289808.2(CRYAB):c.320G>T:p.Arg107Leu	coding	Pathogenic
11	111911559	G	A	G111911559A	CRYAB	NM_001289808.2(CRYAB):c.166C>T:p.Arg56Trp	coding	Pathogenic
11	111911560	C	T	C111911560T	CRYAB	NM_001289808.2(CRYAB):c.165G>A:p.Leu55=	coding	Benign
11	111911665	G	A	G111911665A	CRYAB	NM_001289808.2(CRYAB):c.60C>T:p.Pro20=	coding	Benign
11	111911667	G	A	G111911667A	CRYAB	NM_001289808.2(CRYAB):c.58C>T:p.Pro20Ser	coding	Pathogenic
11	111911745	G	A	G111911745A	CRYAB	NM_001289808.2(CRYAB):c.-21C>T	noncoding	Benign/Likely_benign
11	111911973	G	C	G111911973C	CRYAB	NM_001885.3(CRYAB):c.-198-51C>G	noncoding	Benign
11	111913677	G	A	G111913677A	HSPB2	NM_001541.4(HSPB2):c.331G>A:p.Gly111Ser	coding	Benign
11	111937554	A	G	A111937554G	DIXDC1	NM_001037954.4(DIXDC1):c.55A>G:p.Asn19Asp	coding	Benign
11	111986900	T	C	T111986900C	DIXDC1	NM_001037954.4(DIXDC1):c.1038T>C:p.Ser346=	coding	Benign
11	112016758	C	T	C112016758T	DIXDC1	NM_001037954.4(DIXDC1):c.1824C>T:p.Asp608=	coding	Benign
11	112024529	A	T	A112024529T	DLAT	NC_000011.10:g.112024529A>T	noncoding	Benign
11	112024530	G	T	G112024530T	DLAT	NC_000011.10:g.112024530G>T	noncoding	Benign
11	112025518	G	A	G112025518A	DLAT	NM_001931.5(DLAT):c.46G>A:p.Ala16Thr	coding	Benign
11	112025527	G	C	G112025527C	DLAT	NM_001931.5(DLAT):c.55G>C:p.Glu19Gln	coding	Benign
11	112025600	C	T	C112025600T	DLAT	NM_001931.5(DLAT):c.128C>T:p.Ala43Val	coding	Benign/Likely_benign
11	112026304	G	T	G112026304T	DLAT	NM_001931.5(DLAT):c.381+5G>T	noncoding	Benign
11	112028650	C	T	C112028650T	DLAT	NM_001931.5(DLAT):c.506+11C>T	noncoding	Benign
11	112028855	A	G	A112028855G	DLAT	NM_001931.5(DLAT):c.570A>G:p.Gln190=	coding	Benign/Likely_benign
11	112028911	A	G	A112028911G	DLAT	NM_001931.5(DLAT):c.626A>G:p.Gln209Arg	coding	Benign
11	112033436	C	T	C112033436T	DLAT	NM_001931.5(DLAT):c.693C>T:p.Thr231=	coding	Benign
11	112037413	G	A	G112037413A	DLAT	NM_001931.5(DLAT):c.928G>A:p.Glu310Lys	coding	Benign
11	112037438	T	C	T112037438C	DLAT	NM_001931.5(DLAT):c.953T>C:p.Val318Ala	coding	Benign/Likely_benign
11	112039243	G	A	G112039243A	DLAT	NM_001931.5(DLAT):c.976-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	112045618	A	G	A112045618G	DLAT	NM_001931.5(DLAT):c.1291-245A>G	noncoding	Benign
11	112045923	G	A	G112045923A	DLAT	NM_001931.5(DLAT):c.1351G>A:p.Asp451Asn	coding	Benign/Likely_benign
11	112059689	G	A	G112059689A	DLAT	NM_001931.5(DLAT):c.1515-214G>A	noncoding	Benign
11	112061088	C	A	C112061088A	DLAT	NM_001931.5(DLAT):c.1728C>A:p.Phe576Leu	coding	Pathogenic
11	112086908	A	G	A112086908G	SDHD	NM_003002.4(SDHD):c.1A>G:p.Met1Val	coding	Pathogenic
11	112086908	A	T	A112086908T	SDHD	NM_003002.4(SDHD):c.1A>T:p.Met1Leu	coding	Pathogenic
11	112086910	G	A	G112086910A	SDHD	NM_003002.4(SDHD):c.3G>A:p.Met1Ile	coding	Pathogenic
11	112086910	G	C	G112086910C	SDHD	NM_003002.4(SDHD):c.3G>C:p.Met1Ile	coding	Pathogenic
11	112086921	G	A	G112086921A	SDHD	NM_003002.4(SDHD):c.14G>A:p.Trp5Ter	coding	Pathogenic
11	112086940	C	A	C112086940A	SDHD	NM_003002.4(SDHD):c.33C>A:p.Cys11Ter	coding	Pathogenic
11	112086941	G	A	G112086941A	SDHD	NM_003002.4(SDHD):c.34G>A:p.Gly12Ser	coding	Benign/Likely_benign
11	112086960	G	A	G112086960A	SDHD	NM_003002.4(SDHD):c.52+1G>A	coding	Pathogenic
11	112086961	T	G	T112086961G	SDHD	NM_003002.4(SDHD):c.52+2T>G	noncoding	Pathogenic
11	112087868	C	T	C112087868T	SDHD	NM_003002.4(SDHD):c.64C>T:p.Arg22Ter	coding	Pathogenic
11	112087899	C	A	C112087899A	SDHD	NM_003002.4(SDHD):c.95C>A:p.Ser32Ter	coding	Pathogenic
11	112087910	C	T	C112087910T	SDHD	NM_003002.4(SDHD):c.106C>T:p.Gln36Ter	coding	Pathogenic
11	112087916	C	T	C112087916T	SDHD	NM_003002.4(SDHD):c.112C>T:p.Arg38Ter	coding	Pathogenic
11	112087933	G	A	G112087933A	SDHD	NM_003002.4(SDHD):c.129G>A:p.Trp43Ter	coding	Pathogenic
11	112087943	C	T	C112087943T	SDHD	NM_003002.4(SDHD):c.139C>T:p.Gln47Ter	coding	Pathogenic
11	112087959	C	A	C112087959A	SDHD	NM_003002.4(SDHD):c.155C>A:p.Ser52Ter	coding	Pathogenic
11	112088838	A	G	A112088838G	SDHD	NM_003002.4(SDHD):c.170-29A>G	noncoding	Benign
11	112088866	G	T	G112088866T	SDHD	NM_003002.4(SDHD):c.170-1G>T	noncoding	Pathogenic
11	112088901	C	T	C112088901T	SDHD	NM_003002.4(SDHD):c.204C>T:p.Ser68=	coding	Benign
11	112088939	C	T	C112088939T	SDHD	NM_003002.4(SDHD):c.242C>T:p.Pro81Leu	coding	Pathogenic
11	112088971	G	T	G112088971T	SDHD	NM_003002.4(SDHD):c.274G>T:p.Asp92Tyr	coding	Pathogenic
11	112088972	A	G	A112088972G	SDHD	NM_003002.4(SDHD):c.275A>G:p.Asp92Gly	coding	Pathogenic
11	112088981	T	C	T112088981C	SDHD	NM_003002.4(SDHD):c.284T>C:p.Leu95Pro	coding	Pathogenic
11	112089001	C	A	C112089001A	SDHD	NM_003002.4(SDHD):c.304C>A:p.His102Asn	coding	Pathogenic/Likely_pathogenic
11	112089002	A	T	A112089002T	SDHD	NM_003002.4(SDHD):c.305A>T:p.His102Leu	coding	Pathogenic/Likely_pathogenic
11	112089009	C	T	C112089009T	SDHD	NM_003002.4(SDHD):c.312C>T:p.His104=	coding	Benign/Likely_benign
11	112089011	G	A	G112089011A	SDHD	NM_003002.4(SDHD):c.314G>A:p.Trp105Ter	coding	Pathogenic
11	112089012	G	A	G112089012A	SDHD	NM_003002.4(SDHD):c.314+1G>A	coding	Pathogenic/Likely_pathogenic
11	112089012	G	T	G112089012T	SDHD	NM_003002.4(SDHD):c.314+1G>T	coding	Pathogenic/Likely_pathogenic
11	112094773	T	C	T112094773C	SDHD	NM_003002.4(SDHD):c.315-32T>C	noncoding	Benign
11	112094805	G	A	G112094805A	SDHD	NM_003002.4(SDHD):c.315G>A:p.Trp105Ter	coding	Pathogenic
11	112094815	C	T	C112094815T	SDHD	NM_003002.4(SDHD):c.325C>T:p.Gln109Ter	coding	Pathogenic
11	112094831	A	G	A112094831G	SDHD	NM_003002.4(SDHD):c.341A>G:p.Tyr114Cys	coding	Pathogenic
11	112094832	T	A	T112094832A	SDHD	NM_003002.4(SDHD):c.342T>A:p.Tyr114Ter	coding	Pathogenic
11	112094851	C	T	C112094851T	SDHD	NM_003002.4(SDHD):c.361C>T:p.Gln121Ter	coding	Pathogenic
11	112094906	T	C	T112094906C	SDHD	NM_003002.4(SDHD):c.416T>C:p.Leu139Pro	coding	Pathogenic
11	112095230	T	A	T112095230A	SDHD	NM_003002.4(SDHD):c.*260T>A	noncoding	Benign
11	112095398	A	G	A112095398G	SDHD	NM_003002.4(SDHD):c.*428A>G	noncoding	Benign/Likely_benign
11	112095502	A	T	A112095502T	SDHD	NM_003002.4(SDHD):c.*532A>T	noncoding	Benign
11	112095583	T	C	T112095583C	SDHD	NM_003002.4(SDHD):c.*613T>C	noncoding	Benign
11	112095773	A	G	A112095773G	SDHD	NM_003002.4(SDHD):c.*803A>G	noncoding	Benign
11	112145791	G	A	G112145791A	IL18	NM_001562.4(IL18):c.361-1974C>T	noncoding	Benign
11	112150193	T	G	T112150193G	IL18	NM_001562.4(IL18):c.105A>C:p.Ser35=	coding	Benign
11	112153608	G	T	G112153608T	IL18	NM_001562.4(IL18):c.80-5C>A	noncoding	Benign
11	112155980	A	G	A112155980G	IL18	NM_001562.4(IL18):c.-8-919T>C	noncoding	Benign
11	112226516	C	G	C112226516G	PTS	NM_000317.3(PTS):c.73C>G:p.Arg25Gly	coding	Pathogenic
11	112226516	C	T	C112226516T	PTS	NM_000317.3(PTS):c.73C>T:p.Arg25Ter	coding	Pathogenic
11	112226517	G	A	G112226517A	PTS	NM_000317.3(PTS):c.74G>A:p.Arg25Gln	coding	Pathogenic
11	112228271	A	T	A112228271T	PTS	NM_000317.3(PTS):c.84-323A>T	noncoding	Pathogenic
11	112228303	A	G	A112228303G	PTS	NM_000317.3(PTS):c.84-291A>G	noncoding	Pathogenic
11	112228591	C	G	C112228591G	PTS	NM_000317.3(PTS):c.84-3C>G	noncoding	Pathogenic/Likely_pathogenic
11	112228649	A	G	A112228649G	PTS	NM_000317.3(PTS):c.139A>G:p.Asn47Asp	coding	Pathogenic
11	112228665	A	G	A112228665G	PTS	NM_000317.3(PTS):c.155A>G:p.Asn52Ser	coding	Pathogenic
11	112228669	T	G	T112228669G	PTS	NM_000317.3(PTS):c.159T>G:p.Tyr53Ter	coding	Pathogenic
11	112228687	T	C	T112228687C	PTS	NM_000317.3(PTS):c.163+14T>C	noncoding	Benign
11	112230210	G	A	G112230210A	PTS	NM_000317.3(PTS):c.166G>A:p.Val56Met	coding	Pathogenic/Likely_pathogenic
11	112230639	C	T	C112230639T	PTS	NM_000317.3(PTS):c.200C>T:p.Thr67Met	coding	Pathogenic
11	112233178	C	T	C112233178T	PTS	NM_000317.3(PTS):c.259C>T:p.Pro87Ser	coding	Pathogenic
11	112233179	C	T	C112233179T	PTS	NM_000317.3(PTS):c.260C>T:p.Pro87Leu	coding	Pathogenic/Likely_pathogenic
11	112233191	A	G	A112233191G	PTS	NM_000317.3(PTS):c.272A>G:p.Lys91Arg	coding	Pathogenic
11	112233205	G	A	G112233205A	PTS	NM_000317.3(PTS):c.286G>A:p.Asp96Asn	coding	Pathogenic
11	112233216	C	A	C112233216A	PTS	NM_000317.3(PTS):c.297C>A:p.Tyr99Ter	coding	Pathogenic/Likely_pathogenic
11	112233429	T	C	T112233429C	PTS	NM_000317.3(PTS):c.315-3T>C	noncoding	Benign/Likely_benign
11	112233434	C	T	C112233434T	PTS	NM_000317.3(PTS):c.317C>T:p.Thr106Met	coding	Pathogenic/Likely_pathogenic
11	112233489	A	T	A112233489T	PTS	NM_000317.3(PTS):c.372A>T:p.Val124=	coding	Benign
11	112233522	T	C	T112233522C	PTS	NM_000317.3(PTS):c.405T>C:p.Thr135=	coding	Benign
11	113207325	C	T	C113207325T	NCAM1	NM_181351.5(NCAM1):c.693C>T:p.Val231=	coding	Benign
11	113360011	A	T	A113360011T	TTC12	NM_017868.4(TTC12):c.1614+3A>T	noncoding	Pathogenic
11	113362464	C	T	C113362464T	TTC12	NM_017868.4(TTC12):c.1678C>T:p.Arg560Ter	coding	Pathogenic
11	113362486	T	G	T113362486G	TTC12	NM_017868.4(TTC12):c.1700T>G:p.Met567Arg	coding	Pathogenic
11	113393745	C	T	C113393745T	ANKK1	NM_178510.2(ANKK1):c.450C>T:p.Asn150=	coding	Benign
11	113394994	G	A	G113394994A	ANKK1	NM_178510.2(ANKK1):c.546G>A:p.Ser182=	coding	Benign
11	113395002	G	A	G113395002A	ANKK1	NM_178510.2(ANKK1):c.554G>A:p.Arg185Gln	coding	Benign
11	113395358	G	T	G113395358T	ANKK1	NM_178510.2(ANKK1):c.633-1G>T	noncoding	Benign
11	113398957	C	G	C113398957G	ANKK1	NM_178510.2(ANKK1):c.995-7C>G	noncoding	Benign
11	113399130	C	T	C113399130T	ANKK1	NM_178510.2(ANKK1):c.1161C>T:p.Asp387=	coding	Benign
11	113399293	G	T	G113399293T	ANKK1	NM_178510.2(ANKK1):c.1324G>T:p.Gly442Cys	coding	Benign
11	113399646	C	T	C113399646T	ANKK1	NM_178510.2(ANKK1):c.1677C>T:p.Ser559=	coding	Benign
11	113399728	G	T	G113399728T	ANKK1	NM_178510.2(ANKK1):c.1759G>T:p.Glu587Ter	coding	Benign
11	113399756	C	T	C113399756T	ANKK1	NM_178510.2(ANKK1):c.1787C>T:p.Pro596Leu	coding	Benign
11	113400027	C	T	C113400027T	ANKK1	NM_178510.2(ANKK1):c.2058C>T:p.His686=	coding	Benign
11	113410831	C	T	C113410831T	DRD2	NM_000795.4(DRD2):c.1228G>A:p.Ala410Thr	coding	Benign
11	113412549	G	A	G113412549A	DRD2	NM_000795.4(DRD2):c.1138+7C>T	noncoding	Benign
11	113412715	T	C	T113412715C	DRD2	NM_000795.4(DRD2):c.979A>G:p.Lys327Glu	coding	Benign
11	113412737	G	A	G113412737A	DRD2	NM_000795.4(DRD2):c.957C>T:p.Pro319=	coding	Benign/Likely_benign
11	113412755	A	G	A113412755G	DRD2	NM_000795.4(DRD2):c.939T>C:p.His313=	coding	Benign
11	113412762	G	C	G113412762C	DRD2	NM_000795.4(DRD2):c.932C>G:p.Ser311Cys	coding	Benign
11	113412764	C	T	C113412764T	DRD2	NM_000795.4(DRD2):c.930G>A:p.Pro310=	coding	Benign
11	113412824	G	C	G113412824C	DRD2	NM_000795.4(DRD2):c.870C>G:p.Pro290=	coding	Benign
11	113412842	G	A	G113412842A	DRD2	NM_000795.4(DRD2):c.852C>T:p.Leu284=	coding	Benign
11	113414444	G	A	G113414444A	DRD2	NM_000795.4(DRD2):c.741C>T:p.Pro247=	coding	Benign
11	113416879	G	A	G113416879A	DRD2	NM_000795.4(DRD2):c.516C>T:p.Phe172=	coding	Benign
11	113416972	C	T	C113416972T	DRD2	NM_000795.4(DRD2):c.423G>A:p.Leu141=	coding	Benign/Likely_benign
11	113424360	C	T	C113424360T	DRD2	NM_000795.4(DRD2):c.285+7G>A	noncoding	Benign
11	113424496	G	A	G113424496A	DRD2	NM_000795.4(DRD2):c.156C>T:p.Asn52=	coding	Benign
11	113424499	G	T	G113424499T	DRD2	NM_000795.4(DRD2):c.153C>A:p.Gly51=	coding	Benign
11	113424520	G	A	G113424520A	DRD2	NM_000795.4(DRD2):c.132C>T:p.Leu44=	coding	Benign
11	113424574	G	A	G113424574A	DRD2	NM_000795.4(DRD2):c.78C>T:p.Asp26=	coding	Benign
11	113424592	C	T	C113424592T	DRD2	NM_000795.4(DRD2):c.60G>A:p.Arg20=	coding	Benign
11	113425552	A	G	A113425552G	DRD2	NM_000795.4(DRD2):c.-31-870T>C	noncoding	Benign
11	113689755	C	T	C113689755T	TMPRSS5	NM_030770.4(TMPRSS5):c.1359+10G>A	noncoding	Benign
11	113690190	A	C	A113690190C	TMPRSS5	NM_030770.4(TMPRSS5):c.1206+41T>G	noncoding	Benign
11	113690196	A	C	A113690196C	TMPRSS5	NM_030770.4(TMPRSS5):c.1206+35T>G	noncoding	Benign
11	113690279	G	A	G113690279A	TMPRSS5	NM_030770.4(TMPRSS5):c.1158C>T:p.Pro386=	coding	Benign/Likely_benign
11	113690294	G	A	G113690294A	TMPRSS5	NM_030770.4(TMPRSS5):c.1143C>T:p.Ser381=	coding	Benign
11	113690303	G	A	G113690303A	TMPRSS5	NM_030770.4(TMPRSS5):c.1134C>T:p.Cys378=	coding	Benign
11	113690332	A	G	A113690332G	TMPRSS5	NM_030770.4(TMPRSS5):c.1105T>C:p.Phe369Leu	coding	Benign
11	113690335	A	G	A113690335G	TMPRSS5	NM_030770.4(TMPRSS5):c.1102T>C:p.Leu368=	coding	Benign
11	113691005	G	A	G113691005A	TMPRSS5	NM_030770.4(TMPRSS5):c.965-66C>T	noncoding	Benign
11	113693290	G	A	G113693290A	TMPRSS5	NM_030770.4(TMPRSS5):c.786-41C>T	noncoding	Benign
11	113694512	G	A	G113694512A	TMPRSS5	NM_030770.4(TMPRSS5):c.751C>T:p.Arg251Cys	coding	Benign
11	113694516	C	T	C113694516T	TMPRSS5	NM_030770.4(TMPRSS5):c.747G>A:p.Ala249=	coding	Benign
11	113694600	C	A	C113694600A	TMPRSS5	NM_030770.4(TMPRSS5):c.663G>T:p.Gly221=	coding	Benign
11	113694631	G	A	G113694631A	TMPRSS5	NM_030770.4(TMPRSS5):c.632C>T:p.Ala211Val	coding	Benign
11	113696977	C	T	C113696977T	TMPRSS5	NM_030770.4(TMPRSS5):c.465-6G>A	noncoding	Benign
11	113697374	C	T	C113697374T	TMPRSS5	NM_030770.4(TMPRSS5):c.373G>A:p.Val125Met	coding	Benign
11	113699638	G	A	G113699638A	TMPRSS5	NM_030770.4(TMPRSS5):c.162C>T:p.Ala54=	coding	Benign
11	113699663	C	T	C113699663T	TMPRSS5	NM_030770.4(TMPRSS5):c.137G>A:p.Arg46Gln	coding	Benign
11	113699683	T	C	T113699683C	TMPRSS5	NM_030770.4(TMPRSS5):c.117A>G:p.Ala39=	coding	Benign
11	113700130	C	T	C113700130T	TMPRSS5	NM_030770.4(TMPRSS5):c.42G>A:p.Gln14=	coding	Benign
11	113801625	T	A	T113801625A	USP28	NM_020886.4(USP28):c.2916A>T:p.Val972=	coding	Benign
11	113932286	T	C	T113932286C	HTR3B	NM_006028.4(HTR3B):c.369-3T>C	noncoding	Benign
11	113943097	T	G	T113943097G	HTR3B	NM_006028.4(HTR3B):c.812T>G:p.Ile271Ser	coding	Benign
11	113944725	G	A	G113944725A	HTR3B	NM_006028.4(HTR3B):c.1060G>A:p.Glu354Lys	coding	Benign
11	113975319	G	T	G113975319T	HTR3A	NM_000869.6(HTR3A):c.-7G>T	coding	Benign
11	113981321	C	T	C113981321T	HTR3A	NM_000869.6(HTR3A):c.374+9C>T	noncoding	Benign
11	113986595	C	T	C113986595T	HTR3A	NM_000869.6(HTR3A):c.783C>T:p.Ile261=	coding	Benign
11	113986625	C	T	C113986625T	HTR3A	NM_000869.6(HTR3A):c.813C>T:p.Gly271=	coding	Benign
11	113989552	G	A	G113989552A	HTR3A	NM_000869.6(HTR3A):c.1226G>A:p.Arg409Gln	coding	Benign
11	113989667	C	T	C113989667T	HTR3A	NM_000869.6(HTR3A):c.1341C>T:p.Ser447=	coding	Benign
11	114063699	G	A	G114063699A	ZBTB16	NM_006006.6(ZBTB16):c.399G>A:p.Thr133=	coding	Benign
11	114063726	C	T	C114063726T	ZBTB16	NM_006006.6(ZBTB16):c.426C>T:p.Ala142=	coding	Benign
11	114063972	C	G	C114063972G	ZBTB16	NM_006006.6(ZBTB16):c.672C>G:p.Pro224=	coding	Benign
11	114063972	C	T	C114063972T	ZBTB16	NM_006006.6(ZBTB16):c.672C>T:p.Pro224=	coding	Benign
11	114064305	C	T	C114064305T	ZBTB16	NM_006006.6(ZBTB16):c.1005C>T:p.Ser335=	coding	Benign
11	114064548	C	T	C114064548T	ZBTB16	NM_006006.6(ZBTB16):c.1248C>T:p.Asn416=	coding	Benign
11	114250382	A	G	A114250382G	ZBTB16	NM_006006.6(ZBTB16):c.1849A>G:p.Met617Val	coding	Pathogenic
11	114522397	G	A	G114522397A	NXPE1	NM_152315.5(NXPE1):c.789C>T:p.Phe263=	coding	Benign
11	114523035	C	T	C114523035T	NXPE1	NM_152315.5(NXPE1):c.526G>A:p.Gly176Ser	coding	Benign
11	114530438	C	T	C114530438T	NXPE1	NM_152315.5(NXPE1):c.144G>A:p.Ser48=	coding	Benign
11	115214681	A	G	A115214681G	CADM1	NM_014333.4(CADM1):c.921T>C:p.Asp307=	coding	Benign
11	115214699	A	G	A115214699G	CADM1	NM_014333.4(CADM1):c.903T>C:p.Asn301=	coding	Benign
11	115217927	C	T	C115217927T	CADM1	NM_014333.4(CADM1):c.786G>A:p.Ala262=	coding	Benign
11	115217997	T	G	T115217997G	CADM1	NM_001301043.2(CADM1):c.722-6A>C	noncoding	Benign
11	115229156	C	T	C115229156T	CADM1	NM_014333.4(CADM1):c.678G>A:p.Ala226=	coding	Benign
11	115229275	G	A	G115229275A	CADM1	NM_001301043.2(CADM1):c.563-4C>T	noncoding	Benign
11	115504383	T	C	T115504383C	CADM1	NM_001301043.2(CADM1):c.12A>G:p.Val4=	coding	Benign
11	116760826	G	C	G116760826C	BUD13	NM_032725.4(BUD13):c.1163C>G:p.Ser388Cys	coding	Benign
11	116779049	G	A	G116779049A	ZPR1	NM_003904.5(ZPR1):c.1256C>T:p.Ala419Val	coding	Benign
11	116790254	G	A	G116790254A	APOA5	NM_001371904.1(APOA5):c.975C>T:p.Ala325=	coding	Benign
11	116790267	T	A	T116790267A	APOA5	NM_001371904.1(APOA5):c.962A>T:p.His321Leu	coding	Benign
11	116790285	G	A	G116790285A	APOA5	NM_001371904.1(APOA5):c.944C>T:p.Ala315Val	coding	Benign
11	116790465	T	C	T116790465C	APOA5	NM_001371904.1(APOA5):c.764A>G:p.Glu255Gly	coding	Benign
11	116790533	G	C	G116790533C	APOA5	NM_001371904.1(APOA5):c.696C>G:p.Ser232=	coding	Benign
11	116790772	C	T	C116790772T	APOA5	NM_001371904.1(APOA5):c.457G>A:p.Val153Met	coding	Benign
11	116790814	G	A	G116790814A	APOA5	NM_001371904.1(APOA5):c.415C>T:p.Gln139Ter	coding	Pathogenic
11	116790940	G	A	G116790940A	APOA5	NM_001371904.1(APOA5):c.289C>T:p.Gln97Ter	coding	Pathogenic
11	116791064	G	C	G116791064C	APOA5	NM_001371904.1(APOA5):c.165C>G:p.Thr55=	coding	Benign
11	116791615	G	T	G116791615T	APOA5	NM_001371904.1(APOA5):c.132C>A:p.Ile44=	coding	Benign
11	116791636	G	T	G116791636T	APOA5	NM_001371904.1(APOA5):c.111C>A:p.Asp37Glu	coding	Benign/Likely_benign
11	116821001	A	C	A116821001C	APOA4	NM_000482.4(APOA4):c.1057T>G:p.Ser353Ala	coding	Benign
11	116821050	C	A	C116821050A	APOA4	NM_000482.4(APOA4):c.1008G>T:p.Val336=	coding	Benign
11	116821212	G	A	G116821212A	APOA4	NM_000482.4(APOA4):c.846C>T:p.Thr282=	coding	Benign
11	116821278	G	A	G116821278A	APOA4	NM_000482.4(APOA4):c.780C>T:p.Ala260=	coding	Benign
11	116830819	T	C	T116830819C	APOC3	NM_000040.3(APOC3):c.102T>C:p.Gly34=	coding	Benign
11	116830843	C	T	C116830843T	APOC3	NM_000040.3(APOC3):c.126C>T:p.Thr42=	coding	Benign
11	116832748	C	T	C116832748T	APOC3	NM_000040.3(APOC3):c.180-16C>T	noncoding	Benign
11	116832816	A	G	A116832816G	APOC3	NM_000040.3(APOC3):c.232A>G:p.Lys78Glu	coding	Pathogenic
11	116832864	A	G	A116832864G	APOC3	NM_000040.3(APOC3):c.280A>G:p.Thr94Ala	coding	Pathogenic
11	116835789	G	C	G116835789C	APOA1	NM_000039.2(APOA1):c.*19C>G	noncoding	Benign
11	116835880	G	C	G116835880C	APOA1	NM_000039.2(APOA1):c.732C>G:p.Pro244=	coding	Benign
11	116835948	C	T	C116835948T	APOA1	NM_000039.2(APOA1):c.664G>A:p.Glu222Lys	coding	Pathogenic
11	116836017	C	G	C116836017G	APOA1	NM_000039.2(APOA1):c.595G>C:p.Ala199Pro	coding	Pathogenic
11	116836019	A	G	A116836019G	APOA1	NM_000039.2(APOA1):c.593T>C:p.Leu198Ser	coding	Pathogenic
11	116836023	G	A	G116836023A	APOA1	NM_000039.2(APOA1):c.589C>T:p.Arg197Cys	coding	Pathogenic
11	116836046	G	C	G116836046C	APOA1	NM_000039.2(APOA1):c.566C>G:p.Pro189Arg	coding	Pathogenic
11	116836050	C	A	C116836050A	APOA1	NM_000039.2(APOA1):c.562G>T:p.Ala188Ser	coding	Benign/Likely_benign
11	116836073	A	T	A116836073T	APOA1	NM_000039.2(APOA1):c.539T>A:p.Val180Glu	coding	Pathogenic
11	116836094	C	G	C116836094G	APOA1	NM_000039.2(APOA1):c.518G>C:p.Arg173Pro	coding	Pathogenic
11	116836112	G	C	G116836112C	APOA1	NM_000039.2(APOA1):c.500C>G:p.Pro167Arg	coding	Pathogenic
11	116836134	C	T	C116836134T	APOA1	NM_000039.2(APOA1):c.478G>A:p.Glu160Lys	coding	Pathogenic
11	116836221	T	A	T116836221A	APOA1	NM_000039.2(APOA1):c.391A>T:p.Lys131Ter	coding	Pathogenic
11	116836271	A	G	A116836271G	APOA1	NM_000039.2(APOA1):c.341T>C:p.Leu114Pro	coding	Pathogenic
11	116836290	G	A	G116836290A	APOA1	NM_001318021.1(APOA1):c.-6C>T	coding	Pathogenic
11	116836361	A	C	A116836361C	APOA1	NM_001318021.1(APOA1):c.-77T>G	coding	Pathogenic
11	116836392	A	G	A116836392G	APOA1	NM_001318021.1(APOA1):c.-108T>C	coding	Pathogenic
11	116837020	C	T	C116837020T	APOA1	NM_000039.2(APOA1):c.181G>A:p.Ala61Thr	coding	Benign
11	116837023	A	C	A116837023C	APOA1	NM_000039.3(APOA1):c.178T>G:p.Ser60Ala	coding	Benign
11	116837035	G	A	G116837035A	APOA1	NM_001318021.1(APOA1):c.-162C>T	coding	Pathogenic
11	116837053	C	G	C116837053G	APOA1	NM_000039.2(APOA1):c.148G>C:p.Gly50Arg	coding	Pathogenic
11	116837100	C	A	C116837100A	APOA1	NM_000039.2(APOA1):c.101G>T:p.Arg34Leu	coding	Pathogenic
11	116837118	G	C	G116837118C	APOA1	NM_000039.2(APOA1):c.83C>G:p.Pro28Arg	coding	Pathogenic
11	116837121	G	C	G116837121C	APOA1	NM_000039.2(APOA1):c.80C>G:p.Pro27Arg	coding	Pathogenic
11	116837134	G	A	G116837134A	APOA1	NM_001318021.1(APOA1):c.-240-21C>T	coding	Pathogenic
11	116837360	C	T	C116837360T	APOA1	NM_000039.2(APOA1):c.28G>A:p.Val10Met	coding	Benign
11	116837379	A	G	A116837379G	APOA1	NM_000039.2(APOA1):c.9T>C:p.Ala3=	coding	Benign
11	116849225	C	T	C116849225T	SIK3	NM_025164.6(SIK3):c.3570G>A:p.Pro1190=	coding	Benign
11	116858173	C	T	C116858173T	SIK3	NM_025164.6(SIK3):c.3148G>A:p.Ala1050Thr	coding	Benign
11	116858197	G	A	G116858197A	SIK3	NM_025164.6(SIK3):c.3124C>T:p.Arg1042Cys	coding	Benign
11	116927276	G	A	G116927276A	SIK3	NM_025164.6(SIK3):c.559C>T:p.Arg187Cys	coding	Pathogenic
11	117098134	C	A	C117098134A	SIK3	NM_025164.6(SIK3):c.273+9G>T	noncoding	Benign
11	117152483	G	T	G117152483T	PAFAH1B2	NM_002572.4(PAFAH1B2):c.36G>T:p.Pro12=	coding	Benign
11	117186578	A	G	A117186578G	SIDT2	NM_001040455.2(SIDT2):c.963-6A>G	noncoding	Benign
11	117192273	C	T	C117192273T	SIDT2	NM_001040455.2(SIDT2):c.1892C>T:p.Thr631Met	coding	Benign
11	117192304	C	T	C117192304T	SIDT2	NM_001040455.2(SIDT2):c.1923C>T:p.His641=	coding	Benign
11	117203355	G	C	G117203355C	TAGLN	NM_003186.5(TAGLN):c.229G>C:p.Val77Leu	coding	Benign
11	117203888	T	C	T117203888C	TAGLN	NM_003186.5(TAGLN):c.461+4T>C	noncoding	Benign
11	117204298	A	G	A117204298G	TAGLN	NM_003186.5(TAGLN):c.545A>G:p.Asn182Ser	coding	Benign
11	117204332	C	T	C117204332T	TAGLN	NM_003186.5(TAGLN):c.579C>T:p.Tyr193=	coding	Benign
11	117206025	G	A	G117206025A	PCSK7	NM_004716.4(PCSK7):c.2330C>T:p.Pro777Leu	coding	Benign
11	117207963	G	A	G117207963A	PCSK7	NM_004716.4(PCSK7):c.1786+7C>T	noncoding	Benign
11	117338618	A	C	A117338618C	CEP164	NM_014956.5(CEP164):c.32A>C:p.Gln11Pro	coding	Pathogenic
11	117344290	G	T	G117344290T	CEP164	NM_014956.5(CEP164):c.194+13G>T	noncoding	Benign
11	117351872	C	T	C117351872T	CEP164	NM_014956.5(CEP164):c.277C>T:p.Arg93Trp	coding	Pathogenic
11	117351876	G	A	G117351876A	CEP164	NM_014956.5(CEP164):c.281G>A:p.Ser94Asn	coding	Benign
11	117361836	C	G	C117361836G	CEP164	NM_014956.5(CEP164):c.395C>G:p.Ala132Gly	coding	Benign
11	117363422	T	C	T117363422C	CEP164	NM_014956.5(CEP164):c.688-7T>C	noncoding	Benign
11	117363489	G	A	G117363489A	CEP164	NM_014956.5(CEP164):c.748G>A:p.Gly250Ser	coding	Benign
11	117371449	A	G	A117371449G	CEP164	NM_014956.5(CEP164):c.1135A>G:p.Ser379Gly	coding	Benign
11	117380715	G	A	G117380715A	CEP164	NM_014956.5(CEP164):c.1409+10G>A	coding	Benign
11	117381721	A	G	A117381721G	CEP164	NM_014956.5(CEP164):c.1430A>G:p.His477Arg	coding	Benign
11	117381771	C	A	C117381771A	CEP164	NM_014956.5(CEP164):c.1480C>A:p.Pro494Thr	coding	Benign
11	117381773	T	C	T117381773C	CEP164	NM_014956.5(CEP164):c.1482T>C:p.Pro494=	coding	Benign
11	117381775	C	G	C117381775G	CEP164	NM_014956.5(CEP164):c.1484C>G:p.Pro495Arg	coding	Benign
11	117381864	C	T	C117381864T	CEP164	NM_014956.5(CEP164):c.1573C>T:p.Gln525Ter	coding	Pathogenic
11	117382857	G	A	G117382857A	CEP164	NM_014956.5(CEP164):c.1639G>A:p.Glu547Lys	coding	Benign
11	117387204	C	T	C117387204T	CEP164	NM_014956.5(CEP164):c.1726C>T:p.Arg576Ter	coding	Pathogenic
11	117390772	C	G	C117390772G	CEP164	NM_014956.5(CEP164):c.1935-5C>G	noncoding	Benign
11	117390862	C	T	C117390862T	CEP164	NM_014956.5(CEP164):c.2020C>T:p.Arg674Ter	coding	Pathogenic
11	117391137	C	T	C117391137T	CEP164	NM_014956.5(CEP164):c.2205C>T:p.Ser735=	coding	Benign
11	117391141	C	T	C117391141T	CEP164	NM_014956.5(CEP164):c.2209C>T:p.Gln737Ter	coding	Pathogenic
11	117392600	T	C	T117392600C	CEP164	NM_014956.5(CEP164):c.2466T>C:p.Ser822=	coding	Benign
11	117394388	C	T	C117394388T	CEP164	NM_014956.5(CEP164):c.2655C>T:p.Thr885=	coding	Benign
11	117394422	C	T	C117394422T	CEP164	NM_014956.5(CEP164):c.2689C>T:p.Arg897Ter	coding	Pathogenic
11	117394931	C	G	C117394931G	CEP164	NM_014956.5(CEP164):c.2772C>G:p.Leu924=	coding	Benign/Likely_benign
11	117395553	A	G	A117395553G	CEP164	NM_014956.5(CEP164):c.2920A>G:p.Thr974Ala	coding	Benign
11	117395596	C	G	C117395596G	CEP164	NM_014956.5(CEP164):c.2963C>G:p.Thr988Ser	coding	Benign
11	117396038	A	C	A117396038C	CEP164	NM_014956.5(CEP164):c.3090-16A>C	noncoding	Benign
11	117396558	C	T	C117396558T	CEP164	NM_014956.5(CEP164):c.3225C>T:p.Thr1075=	coding	Benign/Likely_benign
11	117397168	A	G	A117397168G	CEP164	NM_014956.5(CEP164):c.3356A>G:p.Gln1119Arg	coding	Benign
11	117397176	C	T	C117397176T	CEP164	NM_014956.5(CEP164):c.3364C>T:p.Arg1122Cys	coding	Benign/Likely_benign
11	117397296	C	A	C117397296A	CEP164	NM_014956.5(CEP164):c.3484C>A:p.Arg1162Ser	coding	Benign
11	117407979	C	T	C117407979T	CEP164	NM_014956.5(CEP164):c.3556C>T:p.Leu1186=	coding	Benign
11	117408996	C	T	C117408996T	CEP164	NM_014956.5(CEP164):c.3716C>T:p.Pro1239Leu	coding	Benign
11	117409019	C	T	C117409019T	CEP164	NM_014956.5(CEP164):c.3739C>T:p.Gln1247Ter	coding	Pathogenic
11	117409642	C	T	C117409642T	CEP164	NM_014956.5(CEP164):c.3773C>T:p.Ser1258Phe	coding	Benign
11	117409796	C	T	C117409796T	CEP164	NM_014956.5(CEP164):c.3927C>T:p.Thr1309=	coding	Benign
11	117409800	A	C	A117409800C	CEP164	NM_014956.5(CEP164):c.3931A>C:p.Thr1311Pro	coding	Benign
11	117409801	C	G	C117409801G	CEP164	NM_014956.5(CEP164):c.3932C>G:p.Thr1311Ser	coding	Benign
11	117409806	A	C	A117409806C	CEP164	NM_014956.5(CEP164):c.3937A>C:p.Thr1313Pro	coding	Benign
11	117409922	G	A	G117409922A	CEP164	NM_014956.5(CEP164):c.4053G>A:p.Thr1351=	coding	Benign
11	117410850	C	T	C117410850T	CEP164	NM_014956.5(CEP164):c.4119C>T:p.Asn1373=	coding	Benign
11	117412084	G	T	G117412084T	CEP164	NM_014956.5(CEP164):c.4299G>T:p.Ser1433=	coding	Benign
11	117412166	T	C	T117412166C	CEP164	NM_014956.5(CEP164):c.4381T>C:p.Ter1461Arg	coding	Pathogenic
11	117431550	G	A	G117431550A	DSCAML1	NM_020693.4(DSCAML1):c.5358C>T:p.Ser1786=	coding	Benign
11	117431738	C	T	C117431738T	DSCAML1	NM_020693.4(DSCAML1):c.5180-10G>A	noncoding	Benign
11	117437991	T	C	T117437991C	DSCAML1	NM_020693.4(DSCAML1):c.4336A>G:p.Lys1446Glu	coding	Benign
11	117450564	G	A	G117450564A	DSCAML1	NM_020693.4(DSCAML1):c.3693C>T:p.Pro1231=	coding	Benign
11	117458881	G	C	G117458881C	DSCAML1	NM_020693.4(DSCAML1):c.3441C>G:p.Thr1147=	coding	Benign
11	117458914	C	T	C117458914T	DSCAML1	NM_020693.4(DSCAML1):c.3413-5G>A	noncoding	Benign
11	117505497	G	A	G117505497A	DSCAML1	NM_020693.4(DSCAML1):c.2019C>T:p.Asn673=	coding	Benign
11	117505536	G	A	G117505536A	DSCAML1	NM_020693.4(DSCAML1):c.1980C>T:p.Ser660=	coding	Benign
11	117516675	G	A	G117516675A	DSCAML1	NM_020693.4(DSCAML1):c.1575C>T:p.Asn525=	coding	Benign
11	117820164	C	T	C117820164T	FXYD2	NM_001680.5(FXYD2):c.*215G>A	noncoding	Benign
11	117820203	A	C	A117820203C	FXYD2	NM_001680.5(FXYD2):c.*176T>G	noncoding	Benign
11	117820274	G	A	G117820274A	FXYD2	NM_001680.5(FXYD2):c.*105C>T	noncoding	Benign
11	117820301	G	T	G117820301T	FXYD2	NM_001680.5(FXYD2):c.*78C>A	noncoding	Benign
11	117820308	C	T	C117820308T	FXYD2	NM_001680.5(FXYD2):c.*71G>A	noncoding	Benign
11	117820660	G	T	G117820660T	FXYD2	NM_001680.5(FXYD2):c.6+6C>A	noncoding	Benign
11	117820671	G	A	G117820671A	FXYD2	NM_001680.5(FXYD2):c.*1C>T	noncoding	Benign
11	117820675	C	A	C117820675A	FXYD2	NM_001680.5(FXYD2):c.198G>T:p.Pro66=	coding	Benign/Likely_benign
11	117820678	C	T	C117820678T	FXYD2	NM_001680.5(FXYD2):c.195G>A:p.Glu65=	coding	Benign
11	117822419	G	A	G117822419A	FXYD2	NM_001680.5(FXYD2):c.126C>T:p.Leu42=	coding	Benign/Likely_benign
11	117822424	C	T	C117822424T	FXYD2	NM_001680.5(FXYD2):c.121G>A:p.Gly41Arg	coding	Pathogenic
11	117822455	G	A	G117822455A	FXYD2	NM_001680.5(FXYD2):c.90C>T:p.Gly30=	coding	Benign
11	117822469	C	T	C117822469T	FXYD2	NM_001680.5(FXYD2):c.76G>A:p.Val26Ile	coding	Benign/Likely_benign
11	117822698	G	A	G117822698A	FXYD2	NM_001680.5(FXYD2):c.45C>T:p.Asp15=	coding	Benign
11	117822715	C	T	C117822715T	FXYD2	NM_001680.5(FXYD2):c.28G>A:p.Gly10Ser	coding	Benign/Likely_benign
11	117824688	T	C	T117824688C	FXYD2	NM_001680.5(FXYD2):c.-10A>G	coding	Benign
11	117824757	G	A	G117824757A	FXYD2	NM_021603.4(FXYD2):c.20-2040C>T	noncoding	Benign
11	117986488	G	C	G117986488C	IL10RA	NM_001558.4(IL10RA):c.21G>C:p.Val7=	coding	Benign
11	117988389	G	T	G117988389T	IL10RA	NM_001558.4(IL10RA):c.75G>T:p.Glu25Asp	coding	Benign
11	117988450	A	G	A117988450G	IL10RA	NM_001558.4(IL10RA):c.136A>G:p.Thr46Ala	coding	Benign
11	117988458	C	T	C117988458T	IL10RA	NM_001558.4(IL10RA):c.144C>T:p.Ile48=	coding	Benign/Likely_benign
11	117988494	G	A	G117988494A	IL10RA	NM_001558.4(IL10RA):c.180G>A:p.Ala60=	coding	Benign
11	117988495	C	G	C117988495G	IL10RA	NM_001558.4(IL10RA):c.181C>G:p.Leu61Val	coding	Benign/Likely_benign
11	117989504	C	T	C117989504T	IL10RA	NM_001558.4(IL10RA):c.251C>T:p.Thr84Ile	coding	Pathogenic
11	117989554	C	T	C117989554T	IL10RA	NM_001558.4(IL10RA):c.301C>T:p.Arg101Trp	coding	Pathogenic
11	117989565	C	T	C117989565T	IL10RA	NM_001558.4(IL10RA):c.312C>T:p.Asp104=	coding	Benign
11	117989590	G	A	G117989590A	IL10RA	NM_001558.4(IL10RA):c.337G>A:p.Val113Ile	coding	Benign/Likely_benign
11	117993294	G	A	G117993294A	IL10RA	NM_001558.4(IL10RA):c.421G>A:p.Gly141Arg	coding	Pathogenic
11	117993332	A	G	A117993332G	IL10RA	NM_001558.4(IL10RA):c.459A>G:p.Ala153=	coding	Benign
11	117993348	A	G	A117993348G	IL10RA	NM_001558.4(IL10RA):c.475A>G:p.Ser159Gly	coding	Benign
11	117993398	G	A	G117993398A	IL10RA	NM_001558.4(IL10RA):c.525G>A:p.Pro175=	coding	Benign
11	117993410	G	A	G117993410A	IL10RA	NM_001558.4(IL10RA):c.537G>A:p.Thr179=	coding	Pathogenic
11	117994095	C	T	C117994095T	IL10RA	NM_001558.4(IL10RA):c.634C>T:p.Arg212Ter	coding	Pathogenic
11	117994131	A	G	A117994131G	IL10RA	NM_001558.4(IL10RA):c.670A>G:p.Ile224Val	coding	Benign
11	117995596	C	T	C117995596T	IL10RA	NM_001558.4(IL10RA):c.696C>T:p.Thr232=	coding	Benign/Likely_benign
11	117995597	G	A	G117995597A	IL10RA	NM_001558.4(IL10RA):c.697G>A:p.Val233Met	coding	Benign
11	117995616	T	C	T117995616C	IL10RA	NM_001558.4(IL10RA):c.716T>C:p.Phe239Ser	coding	Benign/Likely_benign
11	117995684	C	T	C117995684T	IL10RA	NM_001558.4(IL10RA):c.784C>T:p.Arg262Cys	coding	Pathogenic
11	117995720	G	A	G117995720A	IL10RA	NM_001558.3(IL10RA):c.810+10G>A	noncoding	Benign/Likely_benign
11	117998876	C	T	C117998876T	IL10RA	NM_001558.4(IL10RA):c.972C>T:p.Thr324=	coding	Benign
11	117998945	G	A	G117998945A	IL10RA	NM_001558.4(IL10RA):c.1041G>A:p.Thr347=	coding	Benign
11	117998955	A	G	A117998955G	IL10RA	NM_001558.4(IL10RA):c.1051A>G:p.Arg351Gly	coding	Benign
11	117999062	C	G	C117999062G	IL10RA	NM_001558.4(IL10RA):c.1158C>G:p.Thr386=	coding	Benign
11	117999092	G	A	G117999092A	IL10RA	NM_001558.4(IL10RA):c.1188G>A:p.Arg396=	coding	Benign/Likely_benign
11	117999163	C	T	C117999163T	IL10RA	NM_001558.4(IL10RA):c.1259C>T:p.Ser420Leu	coding	Benign
11	117999264	G	A	G117999264A	IL10RA	NM_001558.4(IL10RA):c.1360G>A:p.Glu454Lys	coding	Benign/Likely_benign
11	117999542	C	T	C117999542T	IL10RA	NM_001558.4(IL10RA):c.1638C>T:p.Ala546=	coding	Benign
11	117999995	T	C	T117999995C	IL10RA	NM_001558.4(IL10RA):c.*354T>C	noncoding	Benign
11	118000609	G	A	G118000609A	IL10RA	NM_001558.4(IL10RA):c.*968G>A	noncoding	Benign
11	118000989	G	C	G118000989C	IL10RA	NM_001558.4(IL10RA):c.*1348G>C	noncoding	Benign
11	118001053	T	C	T118001053C	IL10RA	NM_001558.4(IL10RA):c.*1412T>C	noncoding	Benign
11	118001371	G	A	G118001371A	IL10RA	NM_001558.4(IL10RA):c.*1730G>A	noncoding	Benign
11	118137020	G	A	G118137020A	SCN4B	NM_174934.4(SCN4B):c.*7C>T	noncoding	Benign
11	118137075	G	A	G118137075A	SCN4B	NM_174934.3(SCN4B):c.639C>T:p.Asn213=	coding	Benign
11	118137200	T	G	T118137200G	SCN4B	NM_174934.3(SCN4B):c.594-80A>C	noncoding	Benign
11	118141061	G	A	G118141061A	SCN4B	NM_174934.3(SCN4B):c.593+146C>T	noncoding	Benign
11	118141090	C	T	C118141090T	SCN4B	NM_174934.3(SCN4B):c.593+117G>A	noncoding	Benign
11	118141145	G	A	G118141145A	SCN4B	NM_174934.3(SCN4B):c.593+62C>T	noncoding	Benign
11	118141265	G	A	G118141265A	SCN4B	NM_174934.3(SCN4B):c.535C>T:p.Leu179Phe	coding	Pathogenic
11	118141304	T	G	T118141304G	SCN4B	NM_174934.3(SCN4B):c.496A>C:p.Ile166Leu	coding	Pathogenic
11	118141315	A	C	A118141315C	SCN4B	NM_174934.3(SCN4B):c.485T>G:p.Val162Gly	coding	Pathogenic
11	118141320	G	A	G118141320A	SCN4B	NM_174934.3(SCN4B):c.480C>T:p.Asn160=	coding	Benign
11	118141449	G	A	G118141449A	SCN4B	NM_174934.3(SCN4B):c.464-113C>T	noncoding	Benign
11	118141579	A	G	A118141579G	SCN4B	NM_174934.3(SCN4B):c.464-243T>C	noncoding	Benign
11	118141595	G	A	G118141595A	SCN4B	NM_174934.3(SCN4B):c.464-259C>T	noncoding	Benign
11	118143563	C	G	C118143563G	SCN4B	NM_174934.3(SCN4B):c.463+270G>C	noncoding	Benign
11	118144158	C	T	C118144158T	SCN4B	NM_174934.3(SCN4B):c.235-97G>A	noncoding	Benign
11	118145117	G	A	G118145117A	SCN4B	NM_174934.3(SCN4B):c.174C>T:p.Cys58=	coding	Benign/Likely_benign
11	118145324	G	A	G118145324A	SCN4B	NM_174934.4(SCN4B):c.62-95C>T	coding	Benign
11	118145353	C	T	C118145353T	SCN4B	NM_174934.4(SCN4B):c.62-124G>A	coding	Benign
11	118152709	G	C	G118152709C	SCN4B	NM_174934.3(SCN4B):c.-36C>G	noncoding	Benign
11	118167037	G	A	G118167037A	SCN2B	NM_004588.5(SCN2B):c.498C>T:p.Val166=	coding	Benign/Likely_benign
11	118167098	G	T	G118167098T	SCN2B	NM_004588.5(SCN2B):c.449-12C>A	noncoding	Benign
11	118167216	G	A	G118167216A	SCN2B	NM_004588.5(SCN2B):c.449-130C>T	noncoding	Benign
11	118167249	G	C	G118167249C	SCN2B	NM_004588.5(SCN2B):c.449-163C>G	noncoding	Benign
11	118167937	G	A	G118167937A	SCN2B	NM_004588.5(SCN2B):c.448+148C>T	noncoding	Benign
11	118167982	T	C	T118167982C	SCN2B	NM_004588.5(SCN2B):c.448+103A>G	noncoding	Benign
11	118168739	C	T	C118168739T	SCN2B	NM_004588.5(SCN2B):c.83G>A:p.Arg28Gln	coding	Pathogenic
11	118176919	A	G	A118176919G	SCN2B	NC_000011.10:g.118176919A>G	noncoding	Benign
11	118176942	T	C	T118176942C	SCN2B	NC_000011.10:g.118176942T>C	noncoding	Benign
11	118235527	C	T	C118235527T	MPZL3	NM_198275.3(MPZL3):c.514G>A:p.Val172Met	coding	Benign
11	118235578	T	C	T118235578C	MPZL3	NM_198275.3(MPZL3):c.463A>G:p.Met155Val	coding	Benign
11	118262936	G	A	G118262936A	MPZL2	NM_005797.4(MPZL2):c.220C>T:p.Gln74Ter	coding	Pathogenic
11	118264115	G	A	G118264115A	MPZL2	NM_005797.4(MPZL2):c.39C>T:p.Leu13=	coding	Benign
11	118304724	G	A	G118304724A	CD3E	NM_000733.3(CD3E):c.-112G>A	noncoding	Benign
11	118307292	C	T	C118307292T	CD3E	NM_000733.4(CD3E):c.54C>T:p.Gly18=	coding	Benign
11	118312170	C	T	C118312170T	CD3E	NM_000733.3(CD3E):c.103C>T:p.Pro35Ser	coding	Benign/Likely_benign
11	118312601	C	T	C118312601T	CD3E	NM_000733.3(CD3E):c.104-17C>T	noncoding	Benign
11	118312690	G	A	G118312690A	CD3E	NM_000733.3(CD3E):c.176G>A:p.Trp59Ter	coding	Pathogenic
11	118312730	T	C	T118312730C	CD3E	NM_000733.3(CD3E):c.216T>C:p.Asp72=	coding	Benign
11	118312837	C	T	C118312837T	CD3E	NM_000733.3(CD3E):c.323C>T:p.Ala108Val	coding	Benign
11	118313844	C	T	C118313844T	CD3E	NM_000733.4(CD3E):c.490C>T:p.Arg164Ter	coding	Pathogenic
11	118313852	G	A	G118313852A	CD3E	NM_000733.3(CD3E):c.498G>A:p.Ala166=	coding	Benign/Likely_benign
11	118313861	C	T	C118313861T	CD3E	NM_000733.3(CD3E):c.507C>T:p.Gly169=	coding	Benign/Likely_benign
11	118313876	T	C	T118313876C	CD3E	NM_000733.3(CD3E):c.520+2T>C	noncoding	Pathogenic
11	118315590	C	A	C118315590A	CD3E	NM_000733.3(CD3E):c.*48C>A	noncoding	Benign
11	118315597	C	A	C118315597A	CD3E	NM_000733.3(CD3E):c.*55C>A	noncoding	Benign
11	118339103	G	A	G118339103A	CD3D	NM_000732.4(CD3D):c.*59C>T	noncoding	Benign
11	118339245	A	C	A118339245C	CD3D	NM_000732.4(CD3D):c.451-18T>G	noncoding	Benign
11	118339757	C	T	C118339757T	CD3D	NM_000732.4(CD3D):c.406+18G>A	noncoding	Benign
11	118339902	G	T	G118339902T	CD3D	NM_001040651.2(CD3D):c.275-408C>A	coding	Pathogenic
11	118340370	C	T	C118340370T	CD3D	NM_000732.4(CD3D):c.274+5G>A	noncoding	Pathogenic
11	118340447	G	A	G118340447A	CD3D	NM_000732.4(CD3D):c.202C>T:p.Arg68Ter	coding	Pathogenic
11	118340521	C	T	C118340521T	CD3D	NM_000732.4(CD3D):c.128G>A:p.Trp43Ter	coding	Pathogenic
11	118344424	A	G	A118344424G	CD3G	NM_000073.2(CD3G):c.1A>G:p.Met1Val	coding	Pathogenic
11	118344436	A	T	A118344436T	CD3G	NM_000073.3(CD3G):c.13A>T:p.Lys5Ter	coding	Pathogenic
11	118349035	G	A	G118349035A	CD3G	NM_000073.2(CD3G):c.64G>A:p.Ala22Thr	coding	Benign
11	118349868	A	T	A118349868T	CD3G	NM_000073.2(CD3G):c.205A>T:p.Lys69Ter	coding	Pathogenic
11	118350634	T	C	T118350634C	CD3G	NM_000073.3(CD3G):c.390T>C:p.Ala130=	coding	Benign
11	118350635	G	T	G118350635T	CD3G	NM_000073.3(CD3G):c.391G>T:p.Val131Phe	coding	Benign
11	118353344	A	G	A118353344G	CD3G	NM_000073.2(CD3G):c.*244A>G	noncoding	Benign
11	118353553	G	T	G118353553T	CD3G	NM_000073.2(CD3G):c.*453G>T	noncoding	Benign
11	118390723	A	G	A118390723G	UBE4A	NM_001204077.2(UBE4A):c.2835A>G:p.Ala945=	coding	Benign
11	118436601	C	G	C118436601G	KMT2A	NM_001197104.1(KMT2A):c.89C>G:p.Ala30Gly	coding	Benign/Likely_benign
11	118436670	C	T	C118436670T	KMT2A	NM_001197104.1(KMT2A):c.158C>T:p.Ala53Val	coding	Benign/Likely_benign
11	118468800	C	G	C118468800G	KMT2A	NM_001197104.1(KMT2A):c.458C>G:p.Ser153Ter	coding	Pathogenic
11	118468820	C	T	C118468820T	KMT2A	NM_001197104.1(KMT2A):c.478C>T:p.Arg160Ter	coding	Pathogenic/Likely_pathogenic
11	118468845	G	A	G118468845A	KMT2A	NM_001197104.2(KMT2A):c.502+1G>A	coding	Pathogenic
11	118471676	C	T	C118471676T	KMT2A	NM_001197104.1(KMT2A):c.517C>T:p.Arg173Ter	coding	Pathogenic
11	118471731	C	A	C118471731A	KMT2A	NM_001197104.2(KMT2A):c.572C>A:p.Ser191Ter	coding	Pathogenic
11	118472024	A	T	A118472024T	KMT2A	NM_001197104.2(KMT2A):c.865A>T:p.Lys289Ter	coding	Pathogenic
11	118472663	G	A	G118472663A	KMT2A	NM_001197104.1(KMT2A):c.1504G>A:p.Glu502Lys	coding	Benign
11	118472681	G	T	G118472681T	KMT2A	NM_001197104.1(KMT2A):c.1522G>T:p.Glu508Ter	coding	Pathogenic
11	118472981	C	T	C118472981T	KMT2A	NM_001197104.2(KMT2A):c.1822C>T:p.Arg608Ter	coding	Pathogenic
11	118473043	G	A	G118473043A	KMT2A	NM_001197104.2(KMT2A):c.1884G>A:p.Glu628=	coding	Benign
11	118473133	C	T	C118473133T	KMT2A	NM_001197104.2(KMT2A):c.1974C>T:p.Pro658=	coding	Benign
11	118473392	C	T	C118473392T	KMT2A	NM_005933.4(KMT2A):c.2233C>T:p.Arg745Ter	coding	Pathogenic
11	118473794	G	T	G118473794T	KMT2A	NM_001197104.1(KMT2A):c.2635G>T:p.Glu879Ter	coding	Pathogenic
11	118474055	A	T	A118474055T	KMT2A	NM_001197104.1(KMT2A):c.2896A>T:p.Arg966Ter	coding	Pathogenic
11	118474193	C	T	C118474193T	KMT2A	NM_001197104.1(KMT2A):c.3034C>T:p.Gln1012Ter	coding	Pathogenic
11	118476838	C	T	C118476838T	KMT2A	NM_001197104.1(KMT2A):c.3190C>T:p.Arg1064Ter	coding	Pathogenic
11	118476895	C	T	C118476895T	KMT2A	NM_001197104.1(KMT2A):c.3247C>T:p.Arg1083Ter	coding	Pathogenic
11	118476939	A	G	A118476939G	KMT2A	NM_001197104.2(KMT2A):c.3291A>G:p.Pro1097=	coding	Benign
11	118476949	C	T	C118476949T	KMT2A	NM_001197104.1(KMT2A):c.3301C>T:p.Arg1101Ter	coding	Pathogenic
11	118476983	G	A	G118476983A	KMT2A	NM_001197104.1(KMT2A):c.3334+1G>A	coding	Pathogenic
11	118477973	C	A	C118477973A	KMT2A	NM_001197104.1(KMT2A):c.3341C>A:p.Ser1114Ter	coding	Pathogenic
11	118478083	C	T	C118478083T	KMT2A	NM_001197104.1(KMT2A):c.3451C>T:p.Arg1151Ter	coding	Pathogenic
11	118478087	C	A	C118478087A	KMT2A	NM_001197104.2(KMT2A):c.3455C>A:p.Ser1152Ter	coding	Pathogenic
11	118478092	C	T	C118478092T	KMT2A	NM_005933.4(KMT2A):c.3460C>T:p.Arg1154Trp	coding	Pathogenic/Likely_pathogenic
11	118478096	G	A	G118478096A	KMT2A	NM_005933.4(KMT2A):c.3464G>A:p.Cys1155Tyr	coding	Pathogenic/Likely_pathogenic
11	118478105	G	C	G118478105C	KMT2A	NM_001197104.1(KMT2A):c.3473G>C:p.Cys1158Ser	coding	Pathogenic
11	118478129	A	C	A118478129C	KMT2A	NM_001197104.2(KMT2A):c.3497A>C:p.Asp1166Ala	coding	Pathogenic
11	118478153	T	G	T118478153G	KMT2A	NM_001197104.1(KMT2A):c.3521T>G:p.Leu1174Ter	coding	Pathogenic
11	118478189	A	C	A118478189C	KMT2A	NM_001197104.1(KMT2A):c.3557A>C:p.Lys1186Thr	coding	Pathogenic
11	118478192	A	T	A118478192T	KMT2A	NM_001197104.1(KMT2A):c.3560A>T:p.Gln1187Leu	coding	Pathogenic
11	118478197	T	C	T118478197C	KMT2A	NM_001197104.1(KMT2A):c.3565T>C:p.Cys1189Arg	coding	Pathogenic
11	118478198	G	A	G118478198A	KMT2A	NM_005933.4(KMT2A):c.3566G>A:p.Cys1189Tyr	coding	Pathogenic
11	118480172	A	G	A118480172G	KMT2A	NM_001197104.2(KMT2A):c.3570-2A>G	noncoding	Pathogenic
11	118480196	C	T	C118480196T	KMT2A	NM_001197104.2(KMT2A):c.3592C>T:p.Gln1198Ter	coding	Pathogenic
11	118480240	T	C	T118480240C	KMT2A	NM_001197104.1(KMT2A):c.3634+2T>C	noncoding	Pathogenic
11	118481804	C	T	C118481804T	KMT2A	NM_001197104.2(KMT2A):c.3724C>T:p.Gln1242Ter	coding	Pathogenic
11	118481870	C	T	C118481870T	KMT2A	NM_001197104.1(KMT2A):c.3790C>T:p.Arg1264Ter	coding	Pathogenic
11	118482071	C	T	C118482071T	KMT2A	NM_001197104.1(KMT2A):c.3991C>T:p.Gln1331Ter	coding	Pathogenic
11	118482093	G	C	G118482093C	KMT2A	NM_001197104.1(KMT2A):c.4012+1G>C	coding	Pathogenic
11	118482094	T	A	T118482094A	KMT2A	NM_005933.4(KMT2A):c.4012+2T>A	noncoding	Pathogenic
11	118484889	G	T	G118484889T	KMT2A	NM_001197104.2(KMT2A):c.4246G>T:p.Glu1416Ter	coding	Pathogenic
11	118484897	A	T	A118484897T	KMT2A	NM_001197104.2(KMT2A):c.4254A>T:p.Gly1418=	coding	Benign
11	118484927	A	C	A118484927C	KMT2A	NM_001197104.1(KMT2A):c.4284A>C:p.Ile1428=	coding	Benign
11	118484969	T	C	T118484969C	KMT2A	NM_001197104.2(KMT2A):c.4326T>C:p.His1442=	coding	Benign
11	118488624	G	A	G118488624A	KMT2A	NM_001197104.1(KMT2A):c.4343G>A:p.Cys1448Tyr	coding	Pathogenic
11	118489816	C	T	C118489816T	KMT2A	NM_001197104.1(KMT2A):c.4504C>T:p.Arg1502Ter	coding	Pathogenic
11	118490128	G	C	G118490128C	KMT2A	NM_001197104.1(KMT2A):c.4576-1G>C	noncoding	Pathogenic
11	118490239	C	G	C118490239G	KMT2A	NM_001197104.2(KMT2A):c.4686C>G:p.Leu1562=	coding	Benign
11	118490250	G	A	G118490250A	KMT2A	NM_001197104.1(KMT2A):c.4696+1G>A	coding	Pathogenic
11	118491813	G	A	G118491813A	KMT2A	NM_001197104.2(KMT2A):c.4889G>A:p.Arg1630Gln	coding	Benign
11	118491912	T	A	T118491912A	KMT2A	NM_001197104.1(KMT2A):c.4988T>A:p.Leu1663Ter	coding	Pathogenic
11	118493055	A	G	A118493055G	KMT2A	NM_001197104.1(KMT2A):c.5005-2A>G	noncoding	Pathogenic
11	118494360	A	T	A118494360T	KMT2A	NM_001197104.1(KMT2A):c.5251A>T:p.Lys1751Ter	coding	Pathogenic
11	118495755	C	T	C118495755T	KMT2A	NM_001197104.2(KMT2A):c.5419C>T:p.Gln1807Ter	coding	Pathogenic
11	118496292	G	T	G118496292T	KMT2A	NM_001197104.2(KMT2A):c.5589G>T:p.Glu1863Asp	coding	Benign
11	118496334	G	A	G118496334A	KMT2A	NM_001197104.2(KMT2A):c.5631G>A:p.Ala1877=	coding	Benign
11	118497950	A	G	A118497950G	KMT2A	NM_001197104.1(KMT2A):c.5679A>G:p.Leu1893=	coding	Benign
11	118498369	G	A	G118498369A	KMT2A	NM_005933.4(KMT2A):c.5794-1G>A	noncoding	Pathogenic
11	118498454	C	T	C118498454T	KMT2A	NM_001197104.2(KMT2A):c.5887C>T:p.Arg1963Ter	coding	Pathogenic
11	118499350	C	T	C118499350T	KMT2A	NM_001197104.2(KMT2A):c.6009C>T:p.Asp2003=	coding	Benign
11	118501013	C	T	C118501013T	KMT2A	NM_001197104.2(KMT2A):c.6185C>T:p.Thr2062Ile	coding	Benign
11	118501071	C	T	C118501071T	KMT2A	NM_001197104.2(KMT2A):c.6243C>T:p.Val2081=	coding	Benign
11	118501681	C	G	C118501681G	KMT2A	NM_001197104.1(KMT2A):c.6329C>G:p.Ser2110Ter	coding	Pathogenic
11	118501762	G	T	G118501762T	KMT2A	NM_001197104.2(KMT2A):c.6410G>T:p.Cys2137Phe	coding	Benign
11	118501839	C	T	C118501839T	KMT2A	NM_001197104.1(KMT2A):c.6487C>T:p.Arg2163Ter	coding	Pathogenic
11	118501844	G	A	G118501844A	KMT2A	NM_001197104.2(KMT2A):c.6492G>A:p.Pro2164=	coding	Benign
11	118502463	C	T	C118502463T	KMT2A	NM_001197104.1(KMT2A):c.6571C>T:p.Arg2191Ter	coding	Pathogenic
11	118502577	T	A	T118502577A	KMT2A	NM_001197104.2(KMT2A):c.6685T>A:p.Ser2229Thr	coding	Benign
11	118502585	C	T	C118502585T	KMT2A	NM_001197104.2(KMT2A):c.6693C>T:p.Ser2231=	coding	Benign
11	118502590	C	T	C118502590T	KMT2A	NM_001197104.2(KMT2A):c.6698C>T:p.Thr2233Ile	coding	Benign
11	118502591	C	T	C118502591T	KMT2A	NM_001197104.2(KMT2A):c.6699C>T:p.Thr2233=	coding	Benign
11	118502656	C	A	C118502656A	KMT2A	NM_001197104.1(KMT2A):c.6764C>A:p.Ser2255Ter	coding	Pathogenic
11	118502849	A	G	A118502849G	KMT2A	NM_001197104.2(KMT2A):c.6957A>G:p.Ser2319=	coding	Benign
11	118502856	T	A	T118502856A	KMT2A	NM_001197104.2(KMT2A):c.6964T>A:p.Ser2322Thr	coding	Benign
11	118503036	C	T	C118503036T	KMT2A	NM_005933.4(KMT2A):c.7135C>T:p.Arg2379Ter	coding	Pathogenic
11	118503042	C	T	C118503042T	KMT2A	NM_001197104.1(KMT2A):c.7150C>T:p.Gln2384Ter	coding	Pathogenic
11	118503075	T	C	T118503075C	KMT2A	NM_001197104.2(KMT2A):c.7183T>C:p.Ser2395Pro	coding	Benign
11	118503146	C	T	C118503146T	KMT2A	NM_001197104.1(KMT2A):c.7254C>T:p.Asn2418=	coding	Benign
11	118503330	C	T	C118503330T	KMT2A	NM_001197104.1(KMT2A):c.7438C>T:p.Arg2480Ter	coding	Pathogenic
11	118503581	A	G	A118503581G	KMT2A	NM_001197104.2(KMT2A):c.7689A>G:p.Ser2563=	coding	Benign
11	118503723	G	T	G118503723T	KMT2A	NM_001197104.1(KMT2A):c.7831G>T:p.Glu2611Ter	coding	Pathogenic
11	118503867	C	T	C118503867T	KMT2A	NM_001197104.2(KMT2A):c.7975C>T:p.Arg2659Ter	coding	Pathogenic
11	118503932	C	T	C118503932T	KMT2A	NM_001197104.2(KMT2A):c.8040C>T:p.Asp2680=	coding	Benign
11	118503987	C	T	C118503987T	KMT2A	NM_001197104.1(KMT2A):c.8095C>T:p.Arg2699Ter	coding	Pathogenic
11	118504346	C	G	C118504346G	KMT2A	NM_001197104.2(KMT2A):c.8454C>G:p.Pro2818=	coding	Benign
11	118504349	C	T	C118504349T	KMT2A	NM_001197104.2(KMT2A):c.8457C>T:p.Ser2819=	coding	Benign
11	118504462	T	A	T118504462A	KMT2A	NM_001197104.1(KMT2A):c.8570T>A:p.Leu2857Gln	coding	Pathogenic
11	118504853	T	A	T118504853A	KMT2A	NM_001197104.1(KMT2A):c.8961T>A:p.Thr2987=	coding	Benign
11	118504868	G	A	G118504868A	KMT2A	NM_001197104.2(KMT2A):c.8976G>A:p.Met2992Ile	coding	Benign
11	118504931	T	A	T118504931A	KMT2A	NM_001197104.2(KMT2A):c.9039T>A:p.Gly3013=	coding	Benign
11	118505025	C	T	C118505025T	KMT2A	NM_001197104.1(KMT2A):c.9133C>T:p.Gln3045Ter	coding	Pathogenic
11	118505031	C	T	C118505031T	KMT2A	NM_001197104.1(KMT2A):c.9139C>T:p.Gln3047Ter	coding	Pathogenic
11	118505057	T	C	T118505057C	KMT2A	NM_001197104.2(KMT2A):c.9165T>C:p.Asp3055=	coding	Benign
11	118505283	G	A	G118505283A	KMT2A	NM_001197104.1(KMT2A):c.9391G>A:p.Gly3131Ser	coding	Benign/Likely_benign
11	118505586	C	T	C118505586T	KMT2A	NM_001197104.1(KMT2A):c.9694C>T:p.Arg3232Ter	coding	Pathogenic
11	118505731	C	A	C118505731A	KMT2A	NM_001197104.2(KMT2A):c.9839C>A:p.Ser3280Ter	coding	Pathogenic
11	118505901	T	C	T118505901C	KMT2A	NM_001197104.2(KMT2A):c.10009T>C:p.Leu3337=	coding	Benign
11	118506031	C	G	C118506031G	KMT2A	NM_001197104.1(KMT2A):c.10139C>G:p.Ser3380Ter	coding	Pathogenic
11	118506063	C	T	C118506063T	KMT2A	NM_001197104.1(KMT2A):c.10171C>T:p.Gln3391Ter	coding	Pathogenic
11	118506101	G	A	G118506101A	KMT2A	NM_001197104.2(KMT2A):c.10209G>A:p.Pro3403=	coding	Benign
11	118506109	C	A	C118506109A	KMT2A	NM_001197104.1(KMT2A):c.10217C>A:p.Ser3406Ter	coding	Pathogenic
11	118506288	A	G	A118506288G	KMT2A	NM_001197104.2(KMT2A):c.10396A>G:p.Thr3466Ala	coding	Benign
11	118506501	A	G	A118506501G	KMT2A	NM_001197104.2(KMT2A):c.10609A>G:p.Thr3537Ala	coding	Benign
11	118506582	C	T	C118506582T	KMT2A	NM_001197104.1(KMT2A):c.10690C>T:p.Arg3564Trp	coding	Benign/Likely_benign
11	118506638	A	T	A118506638T	KMT2A	NM_001197104.2(KMT2A):c.10746A>T:p.Ser3582=	coding	Benign
11	118507590	G	T	G118507590T	KMT2A	NM_001197104.2(KMT2A):c.10816G>T:p.Glu3606Ter	coding	Pathogenic
11	118509150	T	C	T118509150C	KMT2A	NM_001197104.1(KMT2A):c.10850T>C:p.Leu3617Pro	coding	Benign/Likely_benign
11	118510119	G	A	G118510119A	KMT2A	NM_001197104.1(KMT2A):c.11071+1G>A	coding	Pathogenic
11	118511963	C	G	C118511963G	KMT2A	NM_001197104.1(KMT2A):c.11084C>G:p.Ser3695Ter	coding	Pathogenic
11	118511989	C	T	C118511989T	KMT2A	NM_001197104.1(KMT2A):c.11110C>T:p.Arg3704Ter	coding	Pathogenic
11	118519616	A	G	A118519616G	KMT2A	NM_001197104.1(KMT2A):c.11147-2A>G	coding	Pathogenic
11	118519701	C	T	C118519701T	KMT2A	NM_001197104.1(KMT2A):c.11230C>T:p.Arg3744Ter	coding	Pathogenic
11	118520026	T	C	T118520026C	KMT2A	NM_001197104.2(KMT2A):c.11391T>C:p.Asn3797=	coding	Benign
11	118520868	G	C	G118520868C	KMT2A	NM_001197104.2(KMT2A):c.11496G>C:p.Glu3832Asp	coding	Benign
11	118520877	T	G	T118520877G	KMT2A	NM_001197104.2(KMT2A):c.11505T>G:p.Gly3835=	coding	Benign
11	118520892	C	T	C118520892T	KMT2A	NM_001197104.2(KMT2A):c.11513+7C>T	noncoding	Benign
11	118557049	T	C	T118557049C	IFT46	NM_020153.3(IFT46):c.199-4A>G	noncoding	Benign
11	118572558	C	T	C118572558T	ARCN1	NM_001655.5(ARCN1):c.3+8C>T	noncoding	Benign
11	118581258	G	T	G118581258T	ARCN1	NM_001655.5(ARCN1):c.16G>T:p.Ala6Ser	coding	Benign
11	118581502	C	A	C118581502A	ARCN1	NM_001655.5(ARCN1):c.260C>A:p.Ser87Ter	coding	Pathogenic
11	118583173	G	A	G118583173A	ARCN1	NM_001655.5(ARCN1):c.268-6G>A	noncoding	Benign
11	118583349	C	T	C118583349T	ARCN1	NM_001655.5(ARCN1):c.438C>T:p.Ala146=	coding	Benign
11	118584612	C	G	C118584612G	ARCN1	NM_001655.5(ARCN1):c.786C>G:p.Thr262=	coding	Benign
11	118590389	C	T	C118590389T	ARCN1	NM_001655.5(ARCN1):c.867C>T:p.Asp289=	coding	Benign
11	118590457	G	A	G118590457A	ARCN1	NM_001655.5(ARCN1):c.935G>A:p.Arg312Gln	coding	Benign
11	118590509	G	A	G118590509A	ARCN1	NM_001655.5(ARCN1):c.984+3G>A	noncoding	Benign
11	118600645	A	G	A118600645G	ARCN1	NM_001655.5(ARCN1):c.1467A>G:p.Val489=	coding	Benign
11	118755491	C	T	C118755491T	DDX6	NM_004397.6(DDX6):c.1187G>A:p.Arg396Gln	coding	Pathogenic
11	118756262	G	A	G118756262A	DDX6	NM_004397.6(DDX6):c.1172C>T:p.Thr391Ile	coding	Pathogenic
11	118756263	T	G	T118756263G	DDX6	NM_004397.6(DDX6):c.1171A>C:p.Thr391Pro	coding	Pathogenic
11	118756266	A	G	A118756266G	DDX6	NM_004397.6(DDX6):c.1168T>C:p.Cys390Arg	coding	Pathogenic
11	118756316	C	T	C118756316T	DDX6	NM_004397.6(DDX6):c.1118G>A:p.Arg373Gln	coding	Pathogenic
11	118756319	T	C	T118756319C	DDX6	NM_004397.6(DDX6):c.1115A>G:p.His372Arg	coding	Pathogenic
11	118893589	C	G	C118893589G	CXCR5	NM_001716.5(CXCR5):c.52-7C>G	coding	Benign
11	118894372	C	T	C118894372T	CXCR5	NM_001716.5(CXCR5):c.828C>T:p.His276=	coding	Benign
11	118898550	C	T	C118898550T	BCL9L	NM_182557.3(BCL9L):c.4365G>A:p.Pro1455=	coding	Benign
11	118898594	C	T	C118898594T	BCL9L	NM_182557.3(BCL9L):c.4321G>A:p.Val1441Met	coding	Benign
11	118898733	A	G	A118898733G	BCL9L	NM_182557.4(BCL9L):c.4182T>C:p.Pro1394=	coding	Benign
11	118898880	G	A	G118898880A	BCL9L	NM_182557.3(BCL9L):c.4035C>T:p.Ser1345=	coding	Benign
11	118898895	C	T	C118898895T	BCL9L	NM_182557.4(BCL9L):c.4020G>A:p.Gln1340=	coding	Benign
11	118901038	A	G	A118901038G	BCL9L	NM_182557.4(BCL9L):c.2705T>C:p.Val902Ala	coding	Benign
11	118901309	G	A	G118901309A	BCL9L	NM_182557.3(BCL9L):c.2434C>T:p.Leu812Phe	coding	Benign
11	118901373	C	T	C118901373T	BCL9L	NM_182557.3(BCL9L):c.2370G>A:p.Pro790=	coding	Benign
11	118901451	G	A	G118901451A	BCL9L	NM_182557.4(BCL9L):c.2292C>T:p.Pro764=	coding	Benign
11	118901807	T	C	T118901807C	BCL9L	NM_182557.4(BCL9L):c.1936A>G:p.Met646Val	coding	Benign
11	118902116	T	C	T118902116C	BCL9L	NM_182557.4(BCL9L):c.1627A>G:p.Ser543Gly	coding	Benign
11	118902432	T	A	T118902432A	BCL9L	NM_182557.3(BCL9L):c.1311A>T:p.Gly437=	coding	Benign
11	118902471	G	A	G118902471A	BCL9L	NM_182557.4(BCL9L):c.1272C>T:p.Ser424=	coding	Benign
11	118903056	C	T	C118903056T	BCL9L	NM_182557.3(BCL9L):c.768G>A:p.Leu256=	coding	Benign
11	118957277	G	A	G118957277A	UPK2	NM_006760.4(UPK2):c.278G>A:p.Gly93Asp	coding	Benign
11	118979003	T	C	T118979003C	FOXR1	NM_181721.3(FOXR1):c.183T>C:p.Ile61=	coding	Benign
11	119015893	G	A	G119015893A	RPS25	NM_001028.3(RPS25):c.330C>T:p.Thr110=	coding	Benign
11	119020256	A	G	A119020256G	TRAPPC4	NM_016146.6(TRAPPC4):c.454+3A>G	noncoding	Pathogenic
11	119024492	A	G	A119024492G	SLC37A4	NM_001164277.1(SLC37A4):c.*418T>C	noncoding	Benign
11	119024785	C	G	C119024785G	SLC37A4	NM_001164277.1(SLC37A4):c.*125G>C	noncoding	Benign
11	119024922	C	T	C119024922T	SLC37A4	NM_001164277.1(SLC37A4):c.1278G>A:p.Lys426=	coding	Benign
11	119024925	G	A	G119024925A	SLC37A4	NM_001164277.1(SLC37A4):c.1275C>T:p.Ser425=	coding	Benign/Likely_benign
11	119024957	G	A	G119024957A	SLC37A4	NM_001164278.2(SLC37A4):c.1309C>T:p.Arg437Ter	coding	Pathogenic/Likely_pathogenic
11	119024976	C	T	C119024976T	SLC37A4	NM_001164277.1(SLC37A4):c.1224G>A:p.Thr408=	coding	Benign
11	119025021	C	T	C119025021T	SLC37A4	NM_001164277.1(SLC37A4):c.1179G>A:p.Trp393Ter	coding	Pathogenic
11	119025190	C	G	C119025190G	SLC37A4	NM_001164277.1(SLC37A4):c.1124+1G>C	noncoding	Pathogenic
11	119025247	C	G	C119025247G	SLC37A4	NM_001164277.1(SLC37A4):c.1067G>C:p.Ser356Thr	coding	Benign/Likely_benign
11	119025251	C	A	C119025251A	SLC37A4	NM_001164277.1(SLC37A4):c.1063G>T:p.Glu355Ter	coding	Pathogenic
11	119025252	G	A	G119025252A	SLC37A4	NM_001164277.1(SLC37A4):c.1062C>T:p.Asn354=	coding	Benign
11	119025298	C	T	C119025298T	SLC37A4	NM_001164277.1(SLC37A4):c.1016G>A:p.Gly339Asp	coding	Pathogenic
11	119025299	C	A	C119025299A	SLC37A4	NM_001467.6(SLC37A4):c.1015G>T:p.Gly339Cys	coding	Pathogenic
11	119026979	G	A	G119026979A	SLC37A4	NM_001164277.1(SLC37A4):c.742C>T:p.Gln248Ter	coding	Pathogenic/Likely_pathogenic
11	119027046	G	T	G119027046T	SLC37A4	NM_001164277.1(SLC37A4):c.675C>A:p.Tyr225Ter	coding	Pathogenic
11	119027609	G	A	G119027609A	SLC37A4	NM_001164277.1(SLC37A4):c.626+19C>T	noncoding	Benign
11	119027614	G	A	G119027614A	SLC37A4	NM_001164277.1(SLC37A4):c.626+14C>T	noncoding	Benign
11	119027660	T	A	T119027660A	SLC37A4	NM_001164277.1(SLC37A4):c.593A>T:p.Asn198Ile	coding	Benign/Likely_benign
11	119027681	G	A	G119027681A	SLC37A4	NM_001164277.1(SLC37A4):c.572C>T:p.Pro191Leu	coding	Pathogenic/Likely_pathogenic
11	119027759	C	T	C119027759T	SLC37A4	NM_001164277.1(SLC37A4):c.495G>A:p.Trp165Ter	coding	Pathogenic
11	119027808	C	T	C119027808T	SLC37A4	NM_001164277.1(SLC37A4):c.446G>A:p.Gly149Glu	coding	Pathogenic
11	119028193	C	A	C119028193A	SLC37A4	NM_001164277.1(SLC37A4):c.381+1G>T	noncoding	Pathogenic
11	119028223	A	G	A119028223G	SLC37A4	NM_001467.6(SLC37A4):c.352T>C:p.Trp118Arg	coding	Pathogenic
11	119028358	G	A	G119028358A	SLC37A4	NM_001164277.1(SLC37A4):c.217C>T:p.Gln73Ter	coding	Pathogenic
11	119028392	A	G	A119028392G	SLC37A4	NM_001164277.1(SLC37A4):c.183T>C:p.Ala61=	coding	Benign
11	119028405	G	T	G119028405T	SLC37A4	NM_001164277.1(SLC37A4):c.170C>A:p.Ser57Ter	coding	Pathogenic
11	119028440	T	C	T119028440C	SLC37A4	NM_001164277.1(SLC37A4):c.149-14A>G	noncoding	Benign
11	119029221	C	A	C119029221A	SLC37A4	NM_001467.6(SLC37A4):c.148+1G>T	noncoding	Pathogenic
11	119029260	G	T	G119029260T	SLC37A4	NM_001164277.1(SLC37A4):c.110C>A:p.Ser37Ter	coding	Pathogenic
11	119029287	C	T	C119029287T	SLC37A4	NM_001164277.1(SLC37A4):c.83G>A:p.Arg28His	coding	Pathogenic/Likely_pathogenic
11	119029288	G	A	G119029288A	SLC37A4	NM_001164277.1(SLC37A4):c.82C>T:p.Arg28Cys	coding	Pathogenic
11	119029311	C	T	C119029311T	SLC37A4	NM_001164277.1(SLC37A4):c.59G>A:p.Gly20Asp	coding	Pathogenic/Likely_pathogenic
11	119029369	T	C	T119029369C	SLC37A4	NM_001164277.1(SLC37A4):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
11	119029628	G	A	G119029628A	SLC37A4	NM_001164277.1(SLC37A4):c.-195-64C>T	noncoding	Benign
11	119030456	C	G	C119030456G	SLC37A4	NM_001164277.1(SLC37A4):c.-420G>C	noncoding	Benign
11	119030552	C	T	C119030552T	SLC37A4	NM_001164277.1(SLC37A4):c.-516G>A	noncoding	Benign
11	119030904	A	T	A119030904T	SLC37A4	NM_001164277.1(SLC37A4):c.-755T>A	noncoding	Benign
11	119047970	G	C	G119047970C	HYOU1	NM_006389.5(HYOU1):c.2487C>G:p.Leu829=	coding	Benign
11	119048848	G	A	G119048848A	HYOU1	NM_006389.5(HYOU1):c.2031C>T:p.Val677=	coding	Benign
11	119051891	C	T	C119051891T	HYOU1	NM_006389.5(HYOU1):c.1266G>A:p.Gln422=	coding	Benign
11	119054123	T	A	T119054123A	HYOU1	NM_006389.5(HYOU1):c.792A>T:p.Val264=	coding	Benign
11	119054662	C	T	C119054662T	HYOU1	NM_006389.5(HYOU1):c.510G>A:p.Lys170=	coding	Benign
11	119055740	C	A	C119055740A	HYOU1	NM_006389.5(HYOU1):c.185+10G>T	noncoding	Benign
11	119067910	C	T	C119067910T	VPS11	NM_021729.5(VPS11):c.87C>T:p.Pro29=	coding	Benign
11	119070257	T	C	T119070257C	VPS11	NM_021729.5(VPS11):c.496T>C:p.Leu166=	coding	Benign
11	119077497	G	A	G119077497A	VPS11	NM_021729.5(VPS11):c.1426-4G>A	noncoding	Benign
11	119077897	G	A	G119077897A	VPS11	NM_021729.5(VPS11):c.1592G>A:p.Arg531Gln	coding	Benign
11	119078601	C	T	C119078601T	VPS11	NM_021729.5(VPS11):c.1960C>T:p.Leu654=	coding	Benign
11	119081085	C	A	C119081085A	VPS11	NM_021729.5(VPS11):c.2439-7C>A	noncoding	Benign
11	119081287	A	T	A119081287T	VPS11	NM_021729.5(VPS11):c.2634A>T:p.Arg878=	coding	Benign
11	119084799	T	A	T119084799A	HMBS	NM_000190.3(HMBS):c.-235T>A	noncoding	Benign
11	119084931	C	T	C119084931T	HMBS	NM_000190.4(HMBS):c.-103C>T	noncoding	Benign
11	119084969	C	T	C119084969T	HMBS	NM_000190.4(HMBS):c.-65C>T	noncoding	Benign
11	119085034	A	G	A119085034G	HMBS	NM_000190.4(HMBS):c.1A>G:p.Met1Val	coding	Pathogenic
11	119085067	G	A	G119085067A	HMBS	NM_000190.4(HMBS):c.33+1G>A	coding	Pathogenic
11	119085067	G	T	G119085067T	HMBS	NM_000190.4(HMBS):c.33+1G>T	coding	Pathogenic
11	119085068	T	G	T119085068G	HMBS	NM_000190.4(HMBS):c.33+2T>G	coding	Pathogenic
11	119088297	C	T	C119088297T	HMBS	NM_000190.4(HMBS):c.76C>T:p.Arg26Cys	coding	Pathogenic
11	119088298	G	A	G119088298A	HMBS	NM_000190.4(HMBS):c.77G>A:p.Arg26His	coding	Pathogenic
11	119088621	G	A	G119088621A	HMBS	NM_000190.4(HMBS):c.88-14G>A	noncoding	Benign
11	119088638	G	A	G119088638A	HMBS	NM_000190.4(HMBS):c.91G>A:p.Ala31Thr	coding	Pathogenic
11	119088647	C	A	C119088647A	HMBS	NM_000190.4(HMBS):c.100C>A:p.Gln34Lys	coding	Pathogenic
11	119088679	C	T	C119088679T	HMBS	NM_000190.4(HMBS):c.132C>T:p.Ala44=	coding	Benign
11	119088681	C	T	C119088681T	HMBS	NM_000190.4(HMBS):c.134C>T:p.Ser45Leu	coding	Benign/Likely_benign
11	119088682	G	A	G119088682A	HMBS	NM_000190.4(HMBS):c.135G>A:p.Ser45=	coding	Benign
11	119088712	G	C	G119088712C	HMBS	NM_000190.4(HMBS):c.160+5G>C	noncoding	Pathogenic
11	119089081	G	C	G119089081C	HMBS	NM_000190.4(HMBS):c.161-1G>C	noncoding	Pathogenic
11	119089084	G	T	G119089084T	HMBS	NM_000190.4(HMBS):c.163G>T:p.Ala55Ser	coding	Pathogenic
11	119089136	C	A	C119089136A	HMBS	NM_000190.4(HMBS):c.210+5C>A	noncoding	Benign
11	119089216	G	A	G119089216A	HMBS	NM_000190.4(HMBS):c.211-1G>A	noncoding	Pathogenic
11	119089248	T	C	T119089248C	HMBS	NM_000190.4(HMBS):c.242T>C:p.Leu81Pro	coding	Pathogenic
11	119089273	G	C	G119089273C	HMBS	NM_000190.4(HMBS):c.266+1G>C	coding	Pathogenic
11	119089719	C	T	C119089719T	HMBS	NM_000190.4(HMBS):c.303C>T:p.Pro101=	coding	Benign
11	119089746	C	T	C119089746T	HMBS	NM_000190.4(HMBS):c.330C>T:p.Ile110=	coding	Benign
11	119089747	G	A	G119089747A	HMBS	NM_000190.4(HMBS):c.331G>A:p.Gly111Arg	coding	Pathogenic
11	119089989	G	A	G119089989A	HMBS	NM_000190.4(HMBS):c.345-1G>A	noncoding	Pathogenic
11	119089991	C	T	C119089991T	HMBS	NM_000190.4(HMBS):c.346C>T:p.Arg116Trp	coding	Pathogenic
11	119090212	C	T	C119090212T	HMBS	NM_000190.4(HMBS):c.445C>T:p.Arg149Ter	coding	Pathogenic
11	119090213	G	A	G119090213A	HMBS	NM_000190.4(HMBS):c.446G>A:p.Arg149Gln	coding	Pathogenic
11	119090224	C	T	C119090224T	HMBS	NM_000190.4(HMBS):c.457C>T:p.Gln153Ter	coding	Pathogenic
11	119090230	C	T	C119090230T	HMBS	NM_000190.4(HMBS):c.463C>T:p.Gln155Ter	coding	Pathogenic
11	119091412	G	A	G119091412A	HMBS	NM_000190.4(HMBS):c.499-1G>A	noncoding	Pathogenic
11	119091413	C	T	C119091413T	HMBS	NM_000190.4(HMBS):c.499C>T:p.Arg167Trp	coding	Pathogenic
11	119091414	G	A	G119091414A	HMBS	NM_000190.4(HMBS):c.500G>A:p.Arg167Gln	coding	Pathogenic/Likely_pathogenic
11	119091414	G	T	G119091414T	HMBS	NM_000190.4(HMBS):c.500G>T:p.Arg167Leu	coding	Pathogenic
11	119091431	C	T	C119091431T	HMBS	NM_000190.4(HMBS):c.517C>T:p.Arg173Trp	coding	Pathogenic
11	119091432	G	A	G119091432A	HMBS	NM_000190.4(HMBS):c.518G>A:p.Arg173Gln	coding	Pathogenic
11	119091444	T	G	T119091444G	HMBS	NM_000190.4(HMBS):c.530T>G:p.Leu177Arg	coding	Pathogenic
11	119091497	C	T	C119091497T	HMBS	NM_000190.4(HMBS):c.583C>T:p.Arg195Cys	coding	Pathogenic
11	119091507	G	A	G119091507A	HMBS	NM_000190.4(HMBS):c.593G>A:p.Trp198Ter	coding	Pathogenic
11	119091515	C	T	C119091515T	HMBS	NM_000190.4(HMBS):c.601C>T:p.Arg201Trp	coding	Pathogenic/Likely_pathogenic
11	119091520	G	T	G119091520T	DPAGT1;HMBS	NM_000190.4(HMBS):c.606G>T:p.Val202=	coding	Benign/Likely_benign
11	119091526	G	T	G119091526T	HMBS	NM_000190.4(HMBS):c.612G>T:p.Gln204His	coding	Pathogenic
11	119091527	G	A	G119091527A	HMBS	NM_000190.4(HMBS):c.612+1G>A	coding	Pathogenic
11	119092106	C	A	C119092106A	HMBS	NM_000190.4(HMBS):c.613-19C>A	noncoding	Benign
11	119092124	G	A	G119092124A	HMBS	NM_000190.4(HMBS):c.613-1G>A	noncoding	Pathogenic
11	119092124	G	T	G119092124T	HMBS	NM_000190.4(HMBS):c.613-1G>T	noncoding	Pathogenic
11	119092159	G	A	G119092159A	HMBS	NM_000190.4(HMBS):c.647G>A:p.Gly216Asp	coding	Pathogenic
11	119092165	T	C	T119092165C	HMBS	NM_000190.4(HMBS):c.651+2T>C	noncoding	Pathogenic
11	119092425	C	T	C119092425T	HMBS	NM_000190.4(HMBS):c.673C>T:p.Arg225Ter	coding	Pathogenic
11	119092469	C	T	C119092469T	HMBS	NM_000190.4(HMBS):c.717C>T:p.His239=	coding	Benign/Likely_benign
11	119092471	A	G	A119092471G	HMBS	NM_000190.4(HMBS):c.719A>G:p.Asp240Gly	coding	Pathogenic
11	119092486	T	G	T119092486G	HMBS	NM_000190.4(HMBS):c.734T>G:p.Leu245Arg	coding	Pathogenic
11	119092491	T	C	T119092491C	HMBS	NM_000190.4(HMBS):c.739T>C:p.Cys247Arg	coding	Pathogenic
11	119092500	G	A	G119092500A	HMBS	NM_000190.4(HMBS):c.748G>A:p.Glu250Lys	coding	Pathogenic
11	119092507	C	T	C119092507T	HMBS	NM_000190.4(HMBS):c.755C>T:p.Ala252Val	coding	Pathogenic
11	119092518	C	A	C119092518A	HMBS	NM_000190.4(HMBS):c.766C>A:p.His256Asn	coding	Pathogenic
11	119092524	G	C	G119092524C	HMBS	NM_000190.4(HMBS):c.771+1G>C	coding	Pathogenic
11	119092525	T	C	T119092525C	HMBS	NM_000190.4(HMBS):c.771+2T>C	noncoding	Pathogenic
11	119092741	A	G	A119092741G	HMBS	NM_000190.4(HMBS):c.772-17A>G	noncoding	Benign
11	119092958	G	A	G119092958A	HMBS	NM_000190.4(HMBS):c.849G>A:p.Trp283Ter	coding	Pathogenic
11	119092983	C	T	C119092983T	HMBS	NM_000190.4(HMBS):c.874C>T:p.Gln292Ter	coding	Pathogenic
11	119093108	A	G	A119093108G	HMBS	NM_000190.4(HMBS):c.913-2A>G	noncoding	Pathogenic
11	119093109	G	C	G119093109C	HMBS	NM_000190.4(HMBS):c.913-1G>C	noncoding	Pathogenic
11	119093217	C	T	C119093217T	HMBS	NM_000190.4(HMBS):c.1020C>T:p.Asn340=	coding	Benign
11	119093272	G	A	G119093272A	HMBS	NM_000190.4(HMBS):c.1075G>A:p.Asp359Asn	coding	Benign
11	119096581	A	G	A119096581G	DPAGT1;HMBS	NM_001382.4(DPAGT1):c.*417T>C	noncoding	Benign
11	119096814	C	T	C119096814T	DPAGT1;HMBS	NM_001382.4(DPAGT1):c.*184G>A	noncoding	Benign
11	119097048	T	C	T119097048C	DPAGT1;HMBS	NM_001382.4(DPAGT1):c.1177A>G:p.Ile393Val	coding	Benign
11	119097556	G	A	G119097556A	DPAGT1	NM_001382.4(DPAGT1):c.918-5C>T	noncoding	Benign/Likely_benign
11	119097569	C	T	C119097569T	DPAGT1	NM_001382.4(DPAGT1):c.918-18G>A	noncoding	Benign
11	119097981	A	C	A119097981C	DPAGT1	NM_001382.4(DPAGT1):c.791T>G:p.Val264Gly	coding	Pathogenic
11	119099986	C	A	C119099986A	DPAGT1	NM_001382.4(DPAGT1):c.643+276G>T	noncoding	Benign
11	119100321	G	C	G119100321C	DPAGT1	NM_001382.4(DPAGT1):c.584C>G:p.Ala195Gly	coding	Pathogenic
11	119100402	A	G	A119100402G	DPAGT1	NM_001382.4(DPAGT1):c.503T>C:p.Leu168Pro	coding	Pathogenic
11	119100728	G	C	G119100728C	DPAGT1	NM_001382.4(DPAGT1):c.398C>G:p.Ser133Ter	coding	Pathogenic
11	119100768	G	T	G119100768T	DPAGT1	NM_001382.4(DPAGT1):c.358C>A:p.Leu120Met	coding	Pathogenic
11	119100777	C	T	C119100777T	DPAGT1	NM_001382.4(DPAGT1):c.349G>A:p.Val117Ile	coding	Pathogenic
11	119100785	G	C	G119100785C	DPAGT1	NM_001382.4(DPAGT1):c.341C>G:p.Ala114Gly	coding	Pathogenic
11	119101094	A	T	A119101094T	DPAGT1	NM_001382.4(DPAGT1):c.206T>A:p.Ile69Asn	coding	Pathogenic
11	119101490	C	T	C119101490T	DPAGT1	NM_001382.4(DPAGT1):c.161+5G>A	noncoding	Pathogenic
11	119102402	A	G	A119102402G	DPAGT1	NC_000011.10:g.119102402A>G	noncoding	Benign
11	119102403	A	C	A119102403C	DPAGT1	NC_000011.10:g.119102403A>C	noncoding	Benign
11	119107952	C	A	C119107952A	C2CD2L	NM_014807.5(C2CD2L):c.211C>A:p.Arg71=	coding	Benign
11	119110553	G	A	G119110553A	C2CD2L	NM_014807.5(C2CD2L):c.451-8G>A	noncoding	Benign
11	119154569	G	A	G119154569A	ABCG4	NM_022169.5(ABCG4):c.534G>A:p.Lys178=	coding	Benign
11	119156981	C	T	C119156981T	ABCG4	NM_022169.5(ABCG4):c.1035C>T:p.Asn345=	coding	Benign
11	119157001	C	T	C119157001T	ABCG4	NM_022169.5(ABCG4):c.1055C>T:p.Pro352Leu	coding	Benign
11	119172362	G	A	G119172362A	NLRX1	NM_001282144.2(NLRX1):c.77G>A:p.Arg26His	coding	Benign
11	119174722	T	C	T119174722C	NLRX1	NM_001282144.2(NLRX1):c.1119T>C:p.Tyr373=	coding	Benign
11	119206293	C	T	C119206293T	CBL	NM_005188.3(CBL):c.-125C>T	noncoding	Benign
11	119206312	G	A	G119206312A	CBL	NM_005188.3(CBL):c.-106G>A	noncoding	Benign
11	119206322	G	A	G119206322A	CBL	NM_005188.3(CBL):c.-96G>A	noncoding	Benign
11	119206413	A	G	A119206413G	CBL	NM_005188.4(CBL):c.-5A>G	noncoding	Benign
11	119206429	C	T	C119206429T	CBL	NM_005188.4(CBL):c.12C>T:p.Asn4=	coding	Benign/Likely_benign
11	119232558	T	G	T119232558G	CBL	NM_005188.3(CBL):c.306T>G:p.Tyr102Ter	coding	Pathogenic
11	119271804	T	C	T119271804C	CBL	NM_005188.4(CBL):c.513T>C:p.Ser171=	coding	Benign
11	119273692	A	G	A119273692G	CBL	NM_005188.3(CBL):c.591-176A>G	noncoding	Benign
11	119274103	A	G	A119274103G	CBL	NM_005188.3(CBL):c.747+79A>G	noncoding	Benign
11	119274564	A	G	A119274564G	CBL	NM_005188.3(CBL):c.748-268A>G	noncoding	Benign
11	119274957	A	G	A119274957G	CBL	NM_005188.4(CBL):c.869+4A>G	noncoding	Benign
11	119274972	A	G	A119274972G	CBL	NM_005188.3(CBL):c.869+19A>G	noncoding	Benign
11	119277862	T	G	T119277862G	CBL	NM_005188.3(CBL):c.1095+18T>G	noncoding	Benign
11	119277863	G	T	G119277863T	CBL	NM_005188.3(CBL):c.1095+19G>T	noncoding	Benign
11	119278164	A	T	A119278164T	CBL	NM_005188.4(CBL):c.1096-2A>T	noncoding	Pathogenic
11	119278165	G	C	G119278165C	CBL	NM_005188.4(CBL):c.1096-1G>C	noncoding	Pathogenic
11	119278165	G	T	G119278165T	CBL	NM_005188.4(CBL):c.1096-1G>T	noncoding	Pathogenic
11	119278170	A	C	A119278170C	CBL	NM_005188.3(CBL):c.1100A>C:p.Gln367Pro	coding	Pathogenic/Likely_pathogenic
11	119278181	T	A	T119278181A	CBL	NM_005188.3(CBL):c.1111T>A:p.Tyr371Asn	coding	Pathogenic/Likely_pathogenic
11	119278181	T	C	T119278181C	CBL	NM_005188.3(CBL):c.1111T>C:p.Tyr371His	coding	Pathogenic
11	119278182	A	G	A119278182G	CBL	NM_005188.3(CBL):c.1112A>G:p.Tyr371Cys	coding	Pathogenic
11	119278220	T	C	T119278220C	CBL	NM_005188.3(CBL):c.1150T>C:p.Cys384Arg	coding	Pathogenic/Likely_pathogenic
11	119278238	G	T	G119278238T	CBL	NM_005188.3(CBL):c.1168G>T:p.Asp390Tyr	coding	Pathogenic
11	119278256	T	C	T119278256C	CBL	NM_005188.3(CBL):c.1186T>C:p.Cys396Arg	coding	Pathogenic
11	119278269	T	G	T119278269G	CBL	NM_005188.3(CBL):c.1199T>G:p.Met400Arg	coding	Pathogenic
11	119278301	C	T	C119278301T	CBL	NM_005188.4(CBL):c.1227+4C>T	noncoding	Benign/Likely_benign
11	119278508	A	G	A119278508G	CBL	NM_005188.4(CBL):c.1228-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	119278569	C	T	C119278569T	CBL	NM_005188.3(CBL):c.1287C>T:p.Ile429=	coding	Benign/Likely_benign
11	119278581	G	A	G119278581A	CBL	NM_005188.3(CBL):c.1299G>A:p.Pro433=	coding	Benign
11	119278641	A	C	A119278641C	CBL	NM_005188.4(CBL):c.1359A>C:p.Pro453=	coding	Benign
11	119284980	G	T	G119284980T	CBL	NM_005188.3(CBL):c.1443G>T:p.Pro481=	coding	Benign/Likely_benign
11	119285022	G	A	G119285022A	CBL	NM_005188.4(CBL):c.1485G>A:p.Pro495=	coding	Benign
11	119285176	C	T	C119285176T	CBL	NM_005188.3(CBL):c.1564-13C>T	noncoding	Benign
11	119285254	A	G	A119285254G	CBL	NM_005188.3(CBL):c.1629A>G:p.Pro543=	coding	Benign/Likely_benign
11	119285266	T	C	T119285266C	CBL	NM_005188.4(CBL):c.1641T>C:p.Pro547=	coding	Benign/Likely_benign
11	119285272	C	A	C119285272A	CBL	NM_005188.4(CBL):c.1647C>A:p.Asp549Glu	coding	Benign/Likely_benign
11	119285483	C	T	C119285483T	CBL	NM_005188.4(CBL):c.1858C>T:p.Leu620Phe	coding	Benign
11	119287955	G	T	G119287955T	CBL	NM_005188.3(CBL):c.2036+9G>T	noncoding	Benign/Likely_benign
11	119297420	G	C	G119297420C	CBL	NM_005188.4(CBL):c.2190G>C:p.Thr730=	coding	Benign/Likely_benign
11	119297446	C	T	C119297446T	CBL	NM_005188.4(CBL):c.2216C>T:p.Ser739Phe	coding	Benign/Likely_benign
11	119297531	G	C	G119297531C	CBL	NM_005188.3(CBL):c.2251+50G>C	noncoding	Benign
11	119298206	T	C	T119298206C	CBL	NM_005188.3(CBL):c.2252-152T>C	noncoding	Benign
11	119298350	T	C	T119298350C	CBL	NM_005188.3(CBL):c.2252-8T>C	noncoding	Benign/Likely_benign
11	119298375	G	A	G119298375A	CBL	NM_005188.4(CBL):c.2269G>A:p.Ala757Thr	coding	Benign/Likely_benign
11	119298422	T	G	T119298422G	CBL	NM_005188.3(CBL):c.2316T>G:p.Asp772Glu	coding	Benign/Likely_benign
11	119299526	G	A	G119299526A	CBL	NM_005188.4(CBL):c.2466G>A:p.Arg822=	coding	Benign
11	119299544	G	A	G119299544A	CBL	NM_005188.4(CBL):c.2484G>A:p.Pro828=	coding	Benign
11	119299629	C	T	C119299629T	CBL	NM_005188.3(CBL):c.2569C>T:p.Leu857Phe	coding	Benign/Likely_benign
11	119299652	C	T	C119299652T	CBL	NM_005188.4(CBL):c.2592C>T:p.Leu864=	coding	Benign
11	119299770	G	A	G119299770A	CBL	NM_005188.4(CBL):c.2710G>A:p.Val904Ile	coding	Benign/Likely_benign
11	119299820	G	A	G119299820A	CBL	NM_005188.3(CBL):c.*39G>A	noncoding	Benign
11	119300020	A	G	A119300020G	CBL	NM_005188.3(CBL):c.*239A>G	noncoding	Benign
11	119300110	A	G	A119300110G	CBL	NM_005188.4(CBL):c.*329A>G	noncoding	Benign
11	119300118	A	C	A119300118C	CBL	NM_005188.4(CBL):c.*337A>C	noncoding	Benign
11	119300294	A	G	A119300294G	CBL	NM_005188.3(CBL):c.*513A>G	noncoding	Benign
11	119300348	G	A	G119300348A	CBL	NM_005188.3(CBL):c.*567G>A	noncoding	Benign
11	119300939	A	G	A119300939G	CBL	NM_005188.3(CBL):c.*1158A>G	noncoding	Benign
11	119301228	A	G	A119301228G	CBL	NM_005188.3(CBL):c.*1447A>G	noncoding	Benign
11	119301375	T	A	T119301375A	CBL	NM_005188.3(CBL):c.*1594T>A	noncoding	Benign
11	119301467	A	C	A119301467C	CBL	NM_005188.3(CBL):c.*1686A>C	noncoding	Benign
11	119301637	T	C	T119301637C	CBL	NM_005188.3(CBL):c.*1856T>C	noncoding	Benign
11	119301696	T	C	T119301696C	CBL	NM_005188.3(CBL):c.*1915T>C	noncoding	Benign
11	119301714	C	T	C119301714T	CBL	NM_005188.3(CBL):c.*1933C>T	noncoding	Benign
11	119301826	A	G	A119301826G	CBL	NM_005188.3(CBL):c.*2045A>G	noncoding	Benign
11	119301928	C	G	C119301928G	CBL	NM_005188.4(CBL):c.*2147C>G	noncoding	Benign
11	119301957	T	C	T119301957C	CBL	NM_005188.3(CBL):c.*2176T>C	noncoding	Benign
11	119302204	C	T	C119302204T	CBL	NM_005188.3(CBL):c.*2423C>T	noncoding	Benign
11	119302400	C	T	C119302400T	CBL	NM_005188.3(CBL):c.*2619C>T	noncoding	Benign
11	119302478	C	T	C119302478T	CBL	NM_005188.3(CBL):c.*2697C>T	noncoding	Benign
11	119302877	C	G	C119302877G	CBL	NM_005188.3(CBL):c.*3096C>G	noncoding	Benign
11	119302935	C	T	C119302935T	CBL	NM_005188.3(CBL):c.*3154C>T	noncoding	Benign
11	119302948	G	A	G119302948A	CBL	NM_005188.3(CBL):c.*3167G>A	noncoding	Benign
11	119303359	A	T	A119303359T	CBL	NM_005188.3(CBL):c.*3578A>T	noncoding	Benign
11	119303437	C	T	C119303437T	CBL	NM_005188.3(CBL):c.*3656C>T	noncoding	Benign
11	119303635	G	A	G119303635A	CBL	NM_005188.3(CBL):c.*3854G>A	noncoding	Benign
11	119303812	C	G	C119303812G	CBL	NM_005188.3(CBL):c.*4031C>G	noncoding	Benign
11	119303866	C	G	C119303866G	CBL	NM_005188.3(CBL):c.*4085C>G	noncoding	Benign
11	119303869	C	T	C119303869T	CBL	NM_005188.3(CBL):c.*4088C>T	noncoding	Benign
11	119303899	A	G	A119303899G	CBL	NM_005188.3(CBL):c.*4118A>G	noncoding	Benign
11	119304083	C	T	C119304083T	CBL	NM_005188.3(CBL):c.*4302C>T	noncoding	Benign
11	119304365	C	A	C119304365A	CBL	NM_005188.3(CBL):c.*4584C>A	noncoding	Benign
11	119305413	C	T	C119305413T	CBL	NM_005188.3(CBL):c.*5632C>T	noncoding	Benign
11	119305429	T	C	T119305429C	CBL	NM_005188.3(CBL):c.*5648T>C	noncoding	Benign
11	119305498	T	G	T119305498G	CBL	NM_005188.3(CBL):c.*5717T>G	noncoding	Benign
11	119305499	C	A	C119305499A	CBL	NM_005188.3(CBL):c.*5718C>A	noncoding	Benign
11	119305537	G	A	G119305537A	CBL	NM_005188.3(CBL):c.*5756G>A	noncoding	Benign
11	119305592	C	T	C119305592T	CBL	NM_005188.3(CBL):c.*5811C>T	noncoding	Benign
11	119305688	T	C	T119305688C	CBL	NM_005188.3(CBL):c.*5907T>C	noncoding	Benign
11	119305768	A	T	A119305768T	CBL	NM_005188.3(CBL):c.*5987A>T	noncoding	Benign
11	119305789	T	C	T119305789C	CBL	NM_005188.3(CBL):c.*6008T>C	noncoding	Benign
11	119306323	T	G	T119306323G	CBL	NM_005188.3(CBL):c.*6542T>G	noncoding	Benign
11	119306429	T	G	T119306429G	CBL	NM_005188.3(CBL):c.*6648T>G	noncoding	Benign
11	119306513	C	A	C119306513A	CBL	NM_005188.3(CBL):c.*6732C>A	noncoding	Benign
11	119306924	A	C	A119306924C	CBL	NM_005188.3(CBL):c.*7143A>C	noncoding	Benign
11	119307095	T	C	T119307095C	CBL	NM_005188.3(CBL):c.*7314T>C	noncoding	Benign
11	119307147	C	T	C119307147T	CBL	NM_005188.3(CBL):c.*7366C>T	noncoding	Benign
11	119307228	A	G	A119307228G	CBL	NM_005188.3(CBL):c.*7447A>G	noncoding	Benign
11	119307340	C	G	C119307340G	CBL	NM_005188.3(CBL):c.*7559C>G	noncoding	Benign
11	119307459	G	A	G119307459A	CBL	NM_005188.4(CBL):c.*7678G>A	noncoding	Benign
11	119307684	G	A	G119307684A	CBL	NM_005188.3(CBL):c.*7903G>A	noncoding	Benign
11	119307730	C	A	C119307730A	CBL	NM_005188.3(CBL):c.*7949C>A	noncoding	Benign
11	119307759	A	G	A119307759G	CBL	NM_005188.3(CBL):c.*7978A>G	noncoding	Benign
11	119307793	T	C	T119307793C	CBL	NM_005188.3(CBL):c.*8012T>C	noncoding	Benign
11	119307798	G	A	G119307798A	CBL	NM_005188.3(CBL):c.*8017G>A	noncoding	Benign
11	119307829	G	A	G119307829A	CBL	NM_005188.3(CBL):c.*8048G>A	noncoding	Benign
11	119307930	A	G	A119307930G	CBL	NM_005188.3(CBL):c.*8149A>G	noncoding	Benign
11	119310830	C	T	C119310830T	MCAM	NM_006500.3(MCAM):c.1719G>A:p.Ala573=	coding	Benign
11	119311913	A	T	A119311913T	MCAM	NM_006500.3(MCAM):c.1180T>A:p.Leu394Met	coding	Benign
11	119339297	G	C	G119339297C	MFRP;C1QTNF5	NM_031433.4(MFRP):c.*1662C>G	noncoding	Benign/Likely_benign
11	119339574	G	C	G119339574C	C1QTNF5	NM_001278431.2(C1QTNF5):c.489C>G:p.Ser163Arg	coding	Pathogenic/Likely_pathogenic
11	119339574	G	T	G119339574T	C1QTNF5	NM_001278431.2(C1QTNF5):c.489C>A:p.Ser163Arg	coding	Pathogenic/Likely_pathogenic
11	119341313	C	T	C119341313T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.*235G>A	noncoding	Benign/Likely_benign
11	119341653	C	T	C119341653T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.1635G>A:p.Ala545=	coding	Benign/Likely_benign
11	119341739	G	A	G119341739A	MFRP	NM_031433.4(MFRP):c.1549C>T:p.Arg517Trp	coding	Pathogenic
11	119342593	C	T	C119342593T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.1387+3G>A	noncoding	Benign/Likely_benign
11	119342609	C	A	C119342609A	MFRP;C1QTNF5	NM_031433.4(MFRP):c.1374G>T:p.Leu458Phe	coding	Benign/Likely_benign
11	119342948	C	T	C119342948T	MFRP	NM_031433.4(MFRP):c.1180G>A:p.Val394Met	coding	Pathogenic
11	119343953	C	T	C119343953T	MFRP	NM_031433.4(MFRP):c.987G>A:p.Trp329Ter	coding	Pathogenic
11	119344332	G	A	G119344332A	MFRP	NM_031433.4(MFRP):c.958C>T:p.Gln320Ter	coding	Pathogenic
11	119344335	G	A	G119344335A	MFRP	NM_031433.4(MFRP):c.955C>T:p.Gln319Ter	coding	Pathogenic
11	119344339	G	T	G119344339T	MFRP	NM_031433.4(MFRP):c.951C>A:p.Tyr317Ter	coding	Pathogenic
11	119344394	G	T	G119344394T	MFRP	NM_031433.4(MFRP):c.899-3C>A	noncoding	Pathogenic
11	119344876	C	T	C119344876T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.770G>A:p.Arg257His	coding	Benign/Likely_benign
11	119344977	C	T	C119344977T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.669G>A:p.Thr223=	coding	Benign/Likely_benign
11	119345411	G	A	G119345411A	MFRP	NM_031433.4(MFRP):c.641+9C>T	noncoding	Benign/Likely_benign
11	119345516	A	G	A119345516G	MFRP	NM_031433.4(MFRP):c.545T>C:p.Ile182Thr	coding	Pathogenic
11	119345521	A	G	A119345521G	MFRP;C1QTNF5	NM_031433.4(MFRP):c.540T>C:p.His180=	coding	Benign/Likely_benign
11	119345538	G	A	G119345538A	MFRP	NM_031433.4(MFRP):c.523C>T:p.Gln175Ter	coding	Pathogenic
11	119345564	G	A	G119345564A	MFRP	NM_031433.4(MFRP):c.497C>T:p.Pro166Leu	coding	Pathogenic
11	119345569	G	A	G119345569A	MFRP;C1QTNF5	NM_031433.4(MFRP):c.492C>T:p.Tyr164=	coding	Benign/Likely_benign
11	119345794	C	T	C119345794T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.406G>A:p.Val136Met	coding	Benign/Likely_benign
11	119345803	C	A	C119345803A	MFRP	NM_031433.4(MFRP):c.397G>T:p.Glu133Ter	coding	Pathogenic
11	119345845	T	C	T119345845C	MFRP;C1QTNF5	NM_031433.4(MFRP):c.355A>G:p.Ile119Val	coding	Benign/Likely_benign
11	119346046	G	A	G119346046A	MFRP	NM_031433.4(MFRP):c.271C>T:p.Gln91Ter	coding	Pathogenic
11	119346116	C	T	C119346116T	MFRP	NM_031433.4(MFRP):c.201G>A:p.Trp67Ter	coding	Pathogenic
11	119346357	A	G	A119346357G	MFRP	NM_031433.4(MFRP):c.72T>C:p.Pro24=	coding	Benign
11	119372792	G	A	G119372792A	USP2	NM_004205.5(USP2):c.689C>T:p.Pro230Leu	coding	Benign
11	119373202	C	T	C119373202T	USP2	NM_004205.5(USP2):c.279G>A:p.Glu93=	coding	Benign
11	119373247	G	A	G119373247A	USP2	NM_004205.5(USP2):c.234C>T:p.Arg78=	coding	Benign
11	119638122	G	A	G119638122A	NECTIN1	NM_203285.2(NECTIN1):c.1353C>T:p.Thr451=	coding	Benign
11	119638775	G	A	G119638775A	NECTIN1	NM_203285.2(NECTIN1):c.1183C>T:p.Pro395Ser	coding	Benign
11	119639934	A	C	A119639934C	NECTIN1	NM_203285.2(NECTIN1):c.1082T>G:p.Val361Gly	coding	Benign
11	119661446	A	G	A119661446G	NECTIN1	NM_002855.5(NECTIN1):c.*3301T>C	coding	Benign
11	119661890	T	G	T119661890G	NECTIN1	NM_002855.5(NECTIN1):c.*2857A>C	coding	Benign
11	119664020	A	G	A119664020G	NECTIN1	NM_002855.5(NECTIN1):c.*727T>C	coding	Benign
11	119664210	G	A	G119664210A	NECTIN1	NM_002855.5(NECTIN1):c.*537C>T	coding	Benign
11	119675174	C	T	C119675174T	NECTIN1	NM_002855.5(NECTIN1):c.988G>A:p.Glu330Lys	coding	Benign/Likely_benign
11	119677734	C	T	C119677734T	NECTIN1	NM_002855.5(NECTIN1):c.554G>A:p.Trp185Ter	coding	Pathogenic
11	119677823	T	A	T119677823A	NECTIN1	NM_002855.5(NECTIN1):c.465A>T:p.Ala155=	coding	Benign
11	120125683	G	T	G120125683T	TRIM29	NM_012101.4(TRIM29):c.1333+8C>A	noncoding	Benign
11	120137390	G	C	G120137390C	TRIM29	NM_012101.4(TRIM29):c.642C>G:p.Leu214=	coding	Benign
11	120228962	C	T	C120228962T	OAF	NM_178507.4(OAF):c.642C>T:p.Cys214=	coding	Benign
11	120429739	C	T	C120429739T	ARHGEF12	NM_015313.3(ARHGEF12):c.691C>T:p.Pro231Ser	coding	Benign
11	120431918	T	A	T120431918A	ARHGEF12	NM_015313.3(ARHGEF12):c.924+7T>A	noncoding	Benign
11	120451705	A	C	A120451705C	ARHGEF12	NM_015313.3(ARHGEF12):c.2037A>C:p.Gly679=	coding	Benign
11	120458185	G	A	G120458185A	ARHGEF12	NM_015313.3(ARHGEF12):c.2331G>A:p.Val777=	coding	Benign
11	120660387	C	G	C120660387G	GRIK4	NM_014619.5(GRIK4):c.69C>G:p.His23Gln	coding	Benign
11	120802838	G	A	G120802838A	GRIK4	NM_014619.5(GRIK4):c.228G>A:p.Glu76=	coding	Benign
11	120815415	C	G	C120815415G	GRIK4	NM_014619.5(GRIK4):c.285C>G:p.Leu95=	coding	Benign
11	120819909	C	G	C120819909G	GRIK4	NM_014619.5(GRIK4):c.500C>G:p.Ala167Gly	coding	Benign
11	120831994	C	T	C120831994T	GRIK4	NM_014619.5(GRIK4):c.654C>T:p.His218=	coding	Benign
11	120862007	A	G	A120862007G	GRIK4	NM_014619.5(GRIK4):c.793A>G:p.Ile265Val	coding	Benign
11	120874188	C	T	C120874188T	GRIK4	NM_014619.5(GRIK4):c.1029C>T:p.His343=	coding	Benign
11	120875201	C	T	C120875201T	GRIK4	NM_014619.5(GRIK4):c.1122C>T:p.Tyr374=	coding	Benign
11	120898624	C	T	C120898624T	GRIK4	NM_014619.5(GRIK4):c.1257C>T:p.Val419=	coding	Benign
11	120940452	G	A	G120940452A	GRIK4	NM_014619.5(GRIK4):c.1582G>A:p.Val528Ile	coding	Benign
11	120982181	T	C	T120982181C	GRIK4	NM_014619.5(GRIK4):c.2471T>C:p.Met824Thr	coding	Benign
11	121102653	T	C	T121102653C	TECTA	NM_005422.2(TECTA):c.-13T>C	noncoding	Benign/Likely_benign
11	121102721	A	G	A121102721G	TECTA	NM_005422.2(TECTA):c.56A>G:p.Gln19Arg	coding	Benign/Likely_benign
11	121109260	C	T	C121109260T	TECTA	NM_005422.4(TECTA):c.248C>T:p.Thr83Met	coding	Pathogenic
11	121113220	C	G	C121113220G	TECTA	NM_005422.2(TECTA):c.624+11C>G	noncoding	Benign/Likely_benign
11	121113549	G	T	G121113549T	TECTA	NM_005422.2(TECTA):c.625-4G>T	noncoding	Benign
11	121113618	C	T	C121113618T	TECTA	NM_005422.2(TECTA):c.690C>T:p.Ile230=	coding	Benign
11	121118626	A	G	A121118626G	TECTA	NM_005422.2(TECTA):c.1111A>G:p.Arg371Gly	coding	Benign
11	121125534	C	T	C121125534T	TECTA	NM_005422.2(TECTA):c.1436C>T:p.Pro479Leu	coding	Benign
11	121125559	A	G	A121125559G	TECTA	NM_005422.2(TECTA):c.1461A>G:p.Gly487=	coding	Benign/Likely_benign
11	121125583	A	G	A121125583G	TECTA	NM_005422.2(TECTA):c.1485A>G:p.Ala495=	coding	Benign
11	121125872	G	A	G121125872A	TECTA	NM_005422.2(TECTA):c.1774G>A:p.Val592Met	coding	Pathogenic
11	121125873	G	T	G121125873T	TECTA	NM_005422.2(TECTA):c.1774+1G>T	coding	Pathogenic
11	121127789	C	T	C121127789T	TECTA	NM_005422.2(TECTA):c.1812C>T:p.Ser604=	coding	Benign/Likely_benign
11	121127811	G	A	G121127811A	TECTA	NM_005422.2(TECTA):c.1834G>A:p.Asp612Asn	coding	Benign/Likely_benign
11	121127870	C	A	C121127870A	TECTA	NM_005422.2(TECTA):c.1893C>A:p.Cys631Ter	coding	Pathogenic
11	121128116	C	A	C121128116A	TECTA	NM_005422.2(TECTA):c.2139C>A:p.Cys713Ter	coding	Pathogenic
11	121128233	C	T	C121128233T	TECTA	NM_005422.2(TECTA):c.2256C>T:p.Ile752=	coding	Benign
11	121129874	G	T	G121129874T	TECTA	NM_005422.2(TECTA):c.2604G>T:p.Thr868=	coding	Benign/Likely_benign
11	121130006	C	A	C121130006A	TECTA	NM_005422.2(TECTA):c.2736C>A:p.Cys912Ter	coding	Pathogenic
11	121130065	T	C	T121130065C	TECTA	NM_005422.2(TECTA):c.2795T>C:p.Val932Ala	coding	Benign/Likely_benign
11	121130075	T	C	T121130075C	TECTA	NM_005422.2(TECTA):c.2805T>C:p.Tyr935=	coding	Benign
11	121130157	G	A	G121130157A	TECTA	NM_005422.2(TECTA):c.2887G>A:p.Ala963Thr	coding	Pathogenic
11	121130212	G	A	G121130212A	TECTA	NM_005422.2(TECTA):c.2941+1G>A	coding	Pathogenic
11	121137491	C	G	C121137491G	TECTA	NM_005422.2(TECTA):c.3012C>G:p.Thr1004=	coding	Benign/Likely_benign
11	121137648	T	A	T121137648A	TECTA	NM_005422.2(TECTA):c.3169T>A:p.Cys1057Ser	coding	Pathogenic
11	121146022	G	A	G121146022A	TECTA	NM_005422.2(TECTA):c.4011G>A:p.Ala1337=	coding	Benign
11	121146085	G	A	G121146085A	TECTA	NM_005422.2(TECTA):c.4074G>A:p.Thr1358=	coding	Benign
11	121146096	G	A	G121146096A	TECTA	NM_005422.2(TECTA):c.4085G>A:p.Trp1362Ter	coding	Pathogenic
11	121146109	G	A	G121146109A	TECTA	NM_005422.2(TECTA):c.4098G>A:p.Thr1366=	coding	Benign
11	121146129	C	T	C121146129T	TECTA	NM_005422.2(TECTA):c.4105+13C>T	noncoding	Benign
11	121160196	G	C	G121160196C	TECTA	NM_005422.2(TECTA):c.4751G>C:p.Ser1584Thr	coding	Benign/Likely_benign
11	121160233	C	T	C121160233T	TECTA	NM_005422.2(TECTA):c.4788C>T:p.Ile1596=	coding	Benign
11	121160301	G	C	G121160301C	TECTA	NM_005422.2(TECTA):c.4856G>C:p.Cys1619Ser	coding	Pathogenic
11	121160302	C	A	C121160302A	TECTA	NM_005422.2(TECTA):c.4857C>A:p.Cys1619Ter	coding	Pathogenic
11	121162258	C	T	C121162258T	TECTA	NM_005422.2(TECTA):c.5160C>T:p.Asp1720=	coding	Benign
11	121162269	G	A	G121162269A	TECTA	NM_005422.2(TECTA):c.5171G>A:p.Ser1724Asn	coding	Benign
11	121165331	G	A	G121165331A	TECTA	NM_005422.2(TECTA):c.5331G>A:p.Leu1777=	coding	Pathogenic
11	121165386	G	A	G121165386A	TECTA	NM_005422.2(TECTA):c.5383+3G>A	noncoding	Benign/Likely_benign
11	121166559	G	A	G121166559A	TECTA	NM_005422.2(TECTA):c.5384-19G>A	noncoding	Benign
11	121166703	T	C	T121166703C	TECTA	NM_005422.2(TECTA):c.5509T>C:p.Cys1837Arg	coding	Pathogenic
11	121166703	T	G	T121166703G	TECTA	NM_005422.2(TECTA):c.5509T>G:p.Cys1837Gly	coding	Pathogenic
11	121166821	G	A	G121166821A	TECTA	NM_005422.2(TECTA):c.5586+41G>A	noncoding	Benign
11	121166845	T	C	T121166845C	TECTA	NM_005422.2(TECTA):c.5586+65T>C	noncoding	Benign
11	121168076	A	G	A121168076G	TECTA	NM_005422.2(TECTA):c.5609A>G:p.Tyr1870Cys	coding	Pathogenic
11	121168101	C	T	C121168101T	TECTA	NM_005422.2(TECTA):c.5634C>T:p.Ser1878=	coding	Benign
11	121168200	T	G	T121168200G	TECTA	NM_005422.2(TECTA):c.5733T>G:p.Val1911=	coding	Benign/Likely_benign
11	121168752	C	A	C121168752A	TECTA	NM_005422.2(TECTA):c.5826C>A:p.Tyr1942Ter	coding	Pathogenic
11	121168792	C	T	C121168792T	TECTA	NM_005422.2(TECTA):c.5866C>T:p.Arg1956Ter	coding	Pathogenic
11	121168867	T	A	T121168867A	TECTA	NM_005422.2(TECTA):c.5941T>A:p.Tyr1981Asn	coding	Pathogenic
11	121168903	C	T	C121168903T	TECTA	NM_005422.2(TECTA):c.5977C>T:p.Arg1993Ter	coding	Pathogenic
11	121187849	A	G	A121187849G	TECTA	NM_005422.2(TECTA):c.6017A>G:p.Asp2006Gly	coding	Pathogenic
11	121187999	G	A	G121187999A	TECTA	NM_005422.2(TECTA):c.6162+5G>A	noncoding	Pathogenic
11	121303461	G	A	G121303461A	SC5D	NM_006918.5(SC5D):c.86G>A:p.Arg29Gln	coding	Pathogenic
11	121303512	A	C	A121303512C	SC5D	NM_006918.5(SC5D):c.137A>C:p.Tyr46Ser	coding	Pathogenic
11	121304353	A	T	A121304353T	SC5D	NM_006918.5(SC5D):c.211-8A>T	noncoding	Benign/Likely_benign
11	121304373	C	T	C121304373T	SC5D	NM_006918.5(SC5D):c.223C>T:p.Arg75Ter	coding	Pathogenic
11	121307091	C	G	C121307091G	SC5D	NM_006918.5(SC5D):c.479C>G:p.Pro160Arg	coding	Pathogenic
11	121307156	A	G	A121307156G	SC5D	NM_006918.5(SC5D):c.544A>G:p.Ile182Val	coding	Benign
11	121307242	C	A	C121307242A	SC5D	NM_006918.5(SC5D):c.630C>A:p.Asp210Glu	coding	Pathogenic
11	121307244	G	A	G121307244A	SC5D	NM_006918.5(SC5D):c.632G>A:p.Gly211Asp	coding	Pathogenic
11	121307593	A	C	A121307593C	SC5D	NM_006918.5(SC5D):c.*81A>C	noncoding	Benign
11	121308840	C	T	C121308840T	SC5D	NM_006918.5(SC5D):c.*1328C>T	noncoding	Benign
11	121309138	A	T	A121309138T	SC5D	NM_006918.5(SC5D):c.*1626A>T	noncoding	Benign
11	121309363	C	G	C121309363G	SC5D	NM_006918.5(SC5D):c.*1851C>G	noncoding	Benign
11	121309777	C	G	C121309777G	SC5D	NM_006918.5(SC5D):c.*2265C>G	noncoding	Benign
11	121310174	G	A	G121310174A	SC5D	NM_006918.5(SC5D):c.*2662G>A	noncoding	Benign
11	121310857	C	T	C121310857T	SC5D	NM_006918.5(SC5D):c.*3345C>T	noncoding	Benign
11	121310984	A	G	A121310984G	SC5D	NM_006918.5(SC5D):c.*3472A>G	noncoding	Benign
11	121311139	A	G	A121311139G	SC5D	NM_006918.5(SC5D):c.*3627A>G	noncoding	Benign
11	121312436	T	C	T121312436C	SC5D	NM_006918.5(SC5D):c.*4924T>C	noncoding	Benign
11	121312736	A	G	A121312736G	SC5D	NM_006918.5(SC5D):c.*5224A>G	noncoding	Benign
11	121313254	T	C	T121313254C	SC5D	NM_006918.5(SC5D):c.*5742T>C	noncoding	Benign
11	121431110	C	A	C121431110A	-	NC_000011.10:g.121431110C>A	noncoding	Benign
11	121431925	T	A	T121431925A	-	NC_000011.10:g.121431925T>A	noncoding	Benign
11	121431937	A	G	A121431937G	-	NC_000011.10:g.121431937A>G	noncoding	Benign
11	121432497	G	A	G121432497A	-	NC_000011.10:g.121432497G>A	noncoding	Benign
11	121432865	T	G	T121432865G	-	NC_000011.10:g.121432865T>G	noncoding	Benign
11	121435753	G	A	G121435753A	-	NC_000011.10:g.121435753G>A	noncoding	Benign
11	121522675	G	A	G121522675A	SORL1	NM_003105.6(SORL1):c.1494G>A:p.Glu498=	coding	Benign
11	121532520	C	T	C121532520T	SORL1	NM_003105.6(SORL1):c.1653C>T:p.Ala551=	coding	Benign
11	121545268	C	T	C121545268T	SORL1	NM_003105.6(SORL1):c.1890C>T:p.Tyr630=	coding	Benign
11	121545397	C	T	C121545397T	SORL1	NM_003105.6(SORL1):c.2019C>T:p.Ser673=	coding	Benign
11	121550041	C	T	C121550041T	SORL1	NM_003105.6(SORL1):c.2133C>T:p.Ser711=	coding	Benign
11	121555327	A	G	A121555327G	SORL1	NM_003105.6(SORL1):c.2571+9A>G	noncoding	Benign
11	121558714	C	T	C121558714T	SORL1	NM_003105.6(SORL1):c.2787C>T:p.Asp929=	coding	Benign
11	121570194	C	T	C121570194T	SORL1	NM_003105.6(SORL1):c.3261C>T:p.Asn1087=	coding	Benign
11	121570228	T	C	T121570228C	SORL1	NM_003105.6(SORL1):c.3295T>C:p.Phe1099Leu	coding	Benign
11	121577300	T	C	T121577300C	SORL1	NM_003105.6(SORL1):c.3480T>C:p.Ser1160=	coding	Benign
11	121577306	G	A	G121577306A	SORL1	NM_003105.6(SORL1):c.3486G>A:p.Glu1162=	coding	Benign
11	121583543	G	A	G121583543A	SORL1	NM_003105.6(SORL1):c.3666G>A:p.Thr1222=	coding	Benign
11	121586313	C	T	C121586313T	SORL1	NM_003105.6(SORL1):c.3798C>T:p.Ser1266=	coding	Benign
11	121590179	G	C	G121590179C	SORL1	NM_003105.6(SORL1):c.4213+5G>C	noncoding	Benign
11	121595627	C	T	C121595627T	SORL1	NM_003105.6(SORL1):c.4374C>T:p.Asn1458=	coding	Benign
11	121595696	G	A	G121595696A	SORL1	NM_003105.6(SORL1):c.4443G>A:p.Pro1481=	coding	Benign
11	121595700	A	G	A121595700G	SORL1	NM_003105.6(SORL1):c.4447A>G:p.Thr1483Ala	coding	Benign
11	121604279	G	A	G121604279A	SORL1	NM_003105.6(SORL1):c.4606G>A:p.Gly1536Ser	coding	Benign
11	121604334	G	A	G121604334A	SORL1	NM_003105.6(SORL1):c.4651+10G>A	noncoding	Benign
11	121606871	C	T	C121606871T	SORL1	NM_003105.6(SORL1):c.4975C>T:p.Leu1659=	coding	Benign
11	121614890	T	A	T121614890A	SORL1	NM_003105.6(SORL1):c.5439T>A:p.His1813Gln	coding	Benign
11	121614899	T	C	T121614899C	SORL1	NM_003105.6(SORL1):c.5448T>C:p.Tyr1816=	coding	Benign
11	121618824	G	A	G121618824A	SORL1	NM_003105.6(SORL1):c.5655G>A:p.Pro1885=	coding	Benign
11	121619793	A	C	A121619793C	SORL1	NM_003105.6(SORL1):c.5765A>C:p.Tyr1922Ser	coding	Benign
11	121621110	G	A	G121621110A	SORL1	NM_003105.6(SORL1):c.5936G>A:p.Ser1979Asn	coding	Benign
11	121625161	A	G	A121625161G	SORL1	NM_003105.6(SORL1):c.6248A>G:p.Lys2083Arg	coding	Benign
11	121625195	G	A	G121625195A	SORL1	NM_003105.6(SORL1):c.6282G>A:p.Thr2094=	coding	Benign
11	121625202	G	A	G121625202A	SORL1	NM_003105.6(SORL1):c.6289G>A:p.Val2097Ile	coding	Benign
11	121625231	G	A	G121625231A	SORL1	NM_003105.6(SORL1):c.6318G>A:p.Gln2106=	coding	Benign
11	121627706	C	T	C121627706T	SORL1	NM_003105.6(SORL1):c.6516C>T:p.Phe2172=	coding	Benign
11	122776228	C	G	C122776228G	UBASH3B	NM_032873.5(UBASH3B):c.171C>G:p.Ala57=	coding	Benign
11	122777123	C	T	C122777123T	UBASH3B	NM_032873.5(UBASH3B):c.315C>T:p.Ser105=	coding	Benign
11	122779487	T	C	T122779487C	UBASH3B	NM_032873.5(UBASH3B):c.403-10T>C	noncoding	Benign
11	122796180	G	A	G122796180A	UBASH3B	NM_032873.5(UBASH3B):c.1138G>A:p.Gly380Ser	coding	Benign
11	122796957	G	A	G122796957A	UBASH3B	NM_032873.5(UBASH3B):c.1281G>A:p.Gln427=	coding	Benign
11	122850068	A	C	A122850068C	CRTAM	NM_019604.4(CRTAM):c.47A>C:p.Glu16Ala	coding	Benign
11	122851732	C	A	C122851732A	CRTAM	NM_019604.4(CRTAM):c.233C>A:p.Ala78Asp	coding	Benign
11	122854037	G	A	G122854037A	CRTAM	NM_019604.4(CRTAM):c.441G>A:p.Lys147=	coding	Benign
11	122855722	A	G	A122855722G	CRTAM	NM_019604.4(CRTAM):c.518A>G:p.Asp173Gly	coding	Benign
11	122855783	G	A	G122855783A	CRTAM	NM_019604.4(CRTAM):c.579G>A:p.Thr193=	coding	Benign
11	122864660	C	T	C122864660T	CRTAM	NM_019604.4(CRTAM):c.758C>T:p.Thr253Ile	coding	Benign
11	122977658	G	T	G122977658T	BSX	NM_001098169.2(BSX):c.693C>A:p.His231Gln	coding	Benign
11	122977661	C	A	C122977661A	BSX	NM_001098169.2(BSX):c.690G>T:p.Pro230=	coding	Benign
11	122979270	G	A	G122979270A	BSX	NM_001098169.2(BSX):c.450C>T:p.Ser150=	coding	Benign
11	123059519	T	C	T123059519C	HSPA8	NM_006597.6(HSPA8):c.1074A>G:p.Glu358=	coding	Benign
11	123059588	G	A	G123059588A	HSPA8	NM_006597.6(HSPA8):c.1005C>T:p.Val335=	coding	Benign
11	123060629	T	C	T123060629C	HSPA8	NM_006597.6(HSPA8):c.375A>G:p.Thr125=	coding	Benign
11	123060671	G	C	G123060671C	HSPA8	NM_006597.6(HSPA8):c.333C>G:p.Thr111=	coding	Benign
11	123073585	C	T	C123073585T	CLMP	NM_024769.5(CLMP):c.1011G>A:p.Gly337=	coding	Benign
11	123073708	G	A	G123073708A	CLMP	NM_024769.5(CLMP):c.888C>T:p.Ser296=	coding	Benign
11	123074702	C	T	C123074702T	CLMP	NM_024769.4(CLMP):c.821G>A:p.Arg274Gln	coding	Pathogenic
11	123083100	G	A	G123083100A	CLMP	NM_024769.4(CLMP):c.664C>T:p.Arg222Ter	coding	Pathogenic
11	123083728	G	A	G123083728A	CLMP	NM_024769.4(CLMP):c.508C>T:p.Arg170Ter	coding	Pathogenic
11	123083783	C	T	C123083783T	CLMP	NM_024769.5(CLMP):c.453G>A:p.Leu151=	coding	Benign
11	123083828	C	T	C123083828T	CLMP	NM_024769.5(CLMP):c.408G>A:p.Lys136=	coding	Benign
11	123084529	A	T	A123084529T	CLMP	NM_024769.4(CLMP):c.371T>A:p.Val124Asp	coding	Pathogenic
11	123097818	C	T	C123097818T	CLMP	NM_024769.5(CLMP):c.163G>A:p.Asp55Asn	coding	Benign
11	123605400	T	A	T123605400A	GRAMD1B	NM_001286563.2(GRAMD1B):c.837T>A:p.Asp279Glu	coding	Benign
11	123605469	C	T	C123605469T	GRAMD1B	NM_001286563.2(GRAMD1B):c.906C>T:p.Ala302=	coding	Benign
11	123613540	G	A	G123613540A	GRAMD1B	NM_001286563.2(GRAMD1B):c.1701G>A:p.Thr567=	coding	Benign
11	123633965	C	G	C123633965G	SCN3B	NM_018400.3(SCN3B):c.670+156G>C	noncoding	Benign
11	123634105	T	G	T123634105G	SCN3B	NM_018400.3(SCN3B):c.*22+16A>C	noncoding	Benign
11	123634162	G	A	G123634162A	SCN3B	NM_018400.3(SCN3B):c.629C>T:p.Ala210Val	coding	Benign/Likely_benign
11	123634251	C	G	C123634251G	SCN3B	NM_018400.3(SCN3B):c.585-45G>C	noncoding	Benign
11	123634391	C	T	C123634391T	SCN3B	NM_018400.3(SCN3B):c.585-185G>A	noncoding	Benign
11	123637980	G	T	G123637980T	SCN3B	NM_018400.3(SCN3B):c.584+206C>A	noncoding	Benign
11	123638134	A	G	A123638134G	SCN3B	NM_018400.3(SCN3B):c.584+52T>C	noncoding	Benign
11	123638188	G	A	G123638188A	SCN3B	NM_018400.3(SCN3B):c.582C>T:p.Asn194=	coding	Benign/Likely_benign
11	123638233	A	G	A123638233G	SCN3B	NM_018400.3(SCN3B):c.537T>C:p.Tyr179=	coding	Benign/Likely_benign
11	123638288	A	G	A123638288G	SCN3B	NM_018400.3(SCN3B):c.482T>C:p.Met161Thr	coding	Pathogenic
11	123638528	G	A	G123638528A	SCN3B	NM_018400.3(SCN3B):c.446-204C>T	noncoding	Benign
11	123642453	G	A	G123642453A	SCN3B	NM_018400.3(SCN3B):c.438C>T:p.Thr146=	coding	Benign
11	123642453	G	T	G123642453T	SCN3B	NM_018400.3(SCN3B):c.438C>A:p.Thr146=	coding	Benign
11	123642468	G	C	G123642468C	SCN3B	NM_018400.3(SCN3B):c.423C>G:p.Ile141Met	coding	Pathogenic
11	123642501	C	A	C123642501A	SCN3B	NM_018400.3(SCN3B):c.390G>T:p.Ala130=	coding	Benign/Likely_benign
11	123642501	C	T	C123642501T	SCN3B	NM_018400.3(SCN3B):c.390G>A:p.Ala130=	coding	Benign/Likely_benign
11	123642642	C	T	C123642642T	SCN3B	NM_018400.3(SCN3B):c.249G>A:p.Glu83=	coding	Benign
11	123645608	G	A	G123645608A	SCN3B	NM_018400.3(SCN3B):c.198C>T:p.Pro66=	coding	Benign
11	123646004	T	G	T123646004G	SCN3B	NM_018400.3(SCN3B):c.56-254A>C	noncoding	Benign
11	123653785	C	T	C123653785T	SCN3B	NM_018400.3(SCN3B):c.17G>A:p.Arg6Lys	coding	Pathogenic
11	123653810	G	A	G123653810A	SCN3B	NM_018400.3(SCN3B):c.-9C>T	noncoding	Benign
11	123654752	G	C	G123654752C	SCN3B	NM_018400.3(SCN3B):c.-951C>G	noncoding	Benign
11	123654756	T	G	T123654756G	SCN3B	NM_018400.3(SCN3B):c.-955A>C	noncoding	Benign
11	123726486	G	A	G123726486A	ZNF202	NM_003455.4(ZNF202):c.1458C>T:p.Cys486=	coding	Benign
11	123729766	C	T	C123729766T	ZNF202	NM_003455.4(ZNF202):c.462G>A:p.Val154=	coding	Benign
11	124023281	C	T	C124023281T	OR10G9	NM_001001953.1(OR10G9):c.269C>T:p.Ala90Val	coding	Benign
11	124023412	A	G	A124023412G	OR10G9	NM_001001953.1(OR10G9):c.400A>G:p.Met134Val	coding	Benign
11	124023429	A	G	A124023429G	OR10G9	NM_001001953.1(OR10G9):c.417A>G:p.Arg139=	coding	Benign
11	124637123	G	A	G124637123A	SIAE	NM_170601.5(SIAE):c.1400C>T:p.Ala467Val	coding	Benign
11	124639814	A	G	A124639814G	SIAE	NM_170601.5(SIAE):c.1020T>C:p.Arg340=	coding	Benign
11	124669399	C	T	C124669399T	SIAE	NM_170601.5(SIAE):c.190G>A:p.Gly64Ser	coding	Benign
11	124754349	G	T	G124754349T	ESAM	NM_138961.3(ESAM):c.731-9C>A	noncoding	Benign
11	124865458	G	C	G124865458C	ROBO3	NM_022370.4(ROBO3):c.-120G>C	noncoding	Benign
11	124865591	T	C	T124865591C	ROBO3	NM_022370.4(ROBO3):c.14T>C:p.Leu5Pro	coding	Pathogenic
11	124868837	A	C	A124868837C	ROBO3	NM_022370.4(ROBO3):c.196A>C:p.Ile66Leu	coding	Pathogenic
11	124868995	G	A	G124868995A	ROBO3	NM_022370.4(ROBO3):c.354G>A:p.Leu118=	coding	Benign
11	124869436	A	C	A124869436C	ROBO3	NM_022370.4(ROBO3):c.488-14A>C	noncoding	Benign
11	124869529	C	T	C124869529T	ROBO3	NM_022370.4(ROBO3):c.567C>T:p.Pro189=	coding	Benign
11	124870028	G	C	G124870028C	ROBO3	NM_022370.4(ROBO3):c.726G>C:p.Ala242=	coding	Benign
11	124870248	G	A	G124870248A	ROBO3	NM_022370.4(ROBO3):c.850G>A:p.Asp284Asn	coding	Benign/Likely_benign
11	124870650	G	A	G124870650A	ROBO3	NM_022370.4(ROBO3):c.955G>A:p.Glu319Lys	coding	Pathogenic
11	124870663	C	T	C124870663T	ROBO3	NM_022370.4(ROBO3):c.968C>T:p.Thr323Met	coding	Benign/Likely_benign
11	124871062	G	A	G124871062A	ROBO3	NM_022370.4(ROBO3):c.1082G>A:p.Gly361Glu	coding	Pathogenic
11	124871084	C	T	C124871084T	ROBO3	NM_022370.4(ROBO3):c.1104C>T:p.Cys368=	coding	Benign
11	124872411	C	A	C124872411A	ROBO3	NM_022370.4(ROBO3):c.1189C>A:p.Pro397Thr	coding	Benign
11	124872469	G	A	G124872469A	ROBO3	NM_022370.4(ROBO3):c.1247G>A:p.Arg416His	coding	Benign
11	124872489	G	A	G124872489A	ROBO3	NM_022370.4(ROBO3):c.1267G>A:p.Val423Met	coding	Benign
11	124872881	C	T	C124872881T	ROBO3	NM_022370.4(ROBO3):c.1331-3C>T	noncoding	Benign
11	124872919	G	T	G124872919T	ROBO3	NM_022370.4(ROBO3):c.1366G>T:p.Gly456Ter	coding	Pathogenic
11	124873038	C	T	C124873038T	ROBO3	NM_022370.4(ROBO3):c.1485C>T:p.Asp495=	coding	Benign
11	124873388	C	T	C124873388T	ROBO3	NM_022370.4(ROBO3):c.1615C>T:p.Arg539Trp	coding	Benign
11	124873798	C	T	C124873798T	ROBO3	NM_022370.4(ROBO3):c.1720C>T:p.Leu574=	coding	Benign/Likely_benign
11	124874109	C	T	C124874109T	ROBO3	NM_022370.4(ROBO3):c.1824C>T:p.Gly608=	coding	Benign
11	124874137	G	A	G124874137A	ROBO3	NM_022370.4(ROBO3):c.1852G>A:p.Gly618Ser	coding	Benign
11	124874910	G	A	G124874910A	ROBO3	NM_022370.4(ROBO3):c.2073+1G>A	coding	Pathogenic
11	124875145	G	C	G124875145C	ROBO3	NM_022370.4(ROBO3):c.2108G>C:p.Arg703Pro	coding	Pathogenic
11	124875150	T	C	T124875150C	ROBO3	NM_022370.4(ROBO3):c.2113T>C:p.Ser705Pro	coding	Pathogenic
11	124875581	C	T	C124875581T	ROBO3	NM_022370.4(ROBO3):c.2317C>T:p.Gln773Ter	coding	Pathogenic
11	124875592	G	A	G124875592A	ROBO3	NM_022370.4(ROBO3):c.2328G>A:p.Ala776=	coding	Benign
11	124875959	G	A	G124875959A	ROBO3	NM_022370.4(ROBO3):c.2427G>A:p.Trp809Ter	coding	Pathogenic
11	124876004	A	C	A124876004C	ROBO3	NM_022370.4(ROBO3):c.2472A>C:p.Ala824=	coding	Benign/Likely_benign
11	124876082	C	T	C124876082T	ROBO3	NM_022370.4(ROBO3):c.2550C>T:p.Ser850=	coding	Benign
11	124876284	C	T	C124876284T	ROBO3	NM_022370.4(ROBO3):c.2603C>T:p.Pro868Leu	coding	Benign
11	124876302	T	A	T124876302A	ROBO3	NM_022370.4(ROBO3):c.2621T>A:p.Leu874Gln	coding	Benign/Likely_benign
11	124877941	G	A	G124877941A	ROBO3	NM_022370.4(ROBO3):c.2991G>A:p.Ala997=	coding	Benign
11	124878300	G	A	G124878300A	ROBO3	NM_022370.4(ROBO3):c.3184G>A:p.Ala1062Thr	coding	Benign
11	124878416	G	A	G124878416A	ROBO3	NM_022370.4(ROBO3):c.3300G>A:p.Pro1100=	coding	Benign
11	124879249	G	A	G124879249A	ROBO3	NM_022370.4(ROBO3):c.3593G>A:p.Arg1198His	coding	Benign
11	124879478	G	T	G124879478T	ROBO3	NM_022370.4(ROBO3):c.3699G>T:p.Gln1233His	coding	Benign
11	124879812	G	A	G124879812A	ROBO3	NM_022370.4(ROBO3):c.3822G>A:p.Pro1274=	coding	Benign/Likely_benign
11	124881231	C	T	C124881231T	ROBO3	NM_022370.4(ROBO3):c.4150-8C>T	noncoding	Benign
11	124881243	C	T	C124881243T	ROBO3	NM_022370.4(ROBO3):c.4154C>T:p.Pro1385Leu	coding	Benign
11	124885135	G	A	G124885135A	ROBO4	NM_019055.6(ROBO4):c.2907C>T:p.Thr969=	coding	Benign
11	124887783	C	T	C124887783T	ROBO4	NM_019055.6(ROBO4):c.2006G>A:p.Arg669Gln	coding	Benign
11	124891560	G	A	G124891560A	ROBO4	NM_019055.6(ROBO4):c.1687C>T:p.Leu563Phe	coding	Benign
11	124893906	G	A	G124893906A	ROBO4	NM_019055.6(ROBO4):c.1458C>T:p.Ala486=	coding	Benign
11	124894280	T	C	T124894280C	ROBO4	NM_019055.6(ROBO4):c.1239A>G:p.Pro413=	coding	Benign
11	124895092	G	A	G124895092A	ROBO4	NM_019055.6(ROBO4):c.1138C>T:p.Arg380Cys	coding	Benign
11	124895536	G	A	G124895536A	ROBO4	NM_019055.6(ROBO4):c.957C>T:p.Tyr319=	coding	Benign
11	124897762	T	G	T124897762G	ROBO4	NM_019055.6(ROBO4):c.34A>C:p.Arg12=	coding	Benign
11	124919524	T	A	T124919524A	HEPACAM	NM_152722.5(HEPACAM):c.*1614A>T	noncoding	Benign
11	124919859	T	C	T124919859C	HEPACAM	NM_152722.5(HEPACAM):c.*1279A>G	coding	Benign
11	124919932	A	T	A124919932T	HEPACAM	NM_152722.5(HEPACAM):c.*1206T>A	coding	Benign
11	124920800	G	T	G124920800T	HEPACAM	NM_152722.5(HEPACAM):c.*338C>A	noncoding	Benign
11	124921026	C	A	C124921026A	HEPACAM	NM_152722.5(HEPACAM):c.*112G>T	noncoding	Benign
11	124921088	G	C	G124921088C	HEPACAM	NM_152722.5(HEPACAM):c.*50C>G	noncoding	Benign/Likely_benign
11	124921414	C	T	C124921414T	HEPACAM	NM_152722.5(HEPACAM):c.975G>A:p.Pro325=	coding	Benign
11	124921418	T	C	T124921418C	HEPACAM	NM_152722.5(HEPACAM):c.971A>G:p.Asn324Ser	coding	Benign
11	124922731	G	A	G124922731A	HEPACAM	NM_152722.5(HEPACAM):c.877+14C>T	noncoding	Benign
11	124922737	G	A	G124922737A	HEPACAM	NM_152722.5(HEPACAM):c.877+8C>T	noncoding	Benign
11	124922771	T	C	T124922771C	HEPACAM	NM_152722.5(HEPACAM):c.851A>G:p.Gln284Arg	coding	Benign
11	124923786	T	C	T124923786C	HEPACAM	NM_152722.5(HEPACAM):c.652A>G:p.Met218Val	coding	Benign
11	124923807	C	T	C124923807T	HEPACAM	NM_152722.5(HEPACAM):c.631G>A:p.Asp211Asn	coding	Pathogenic
11	124923820	G	A	G124923820A	HEPACAM	NM_152722.5(HEPACAM):c.618C>T:p.Arg206=	coding	Benign
11	124923851	G	T	G124923851T	HEPACAM	NM_152722.5(HEPACAM):c.587C>A:p.Ser196Tyr	coding	Pathogenic
11	124924689	C	T	C124924689T	HEPACAM	NM_152722.5(HEPACAM):c.427+39G>A	noncoding	Benign
11	124924792	C	T	C124924792T	HEPACAM	NM_152722.5(HEPACAM):c.363G>A:p.Glu121=	coding	Benign
11	124924816	C	T	C124924816T	HEPACAM	NM_152722.5(HEPACAM):c.339G>A:p.Gln113=	coding	Benign
11	124924863	G	A	G124924863A	HEPACAM	NM_152722.5(HEPACAM):c.292C>T:p.Arg98Cys	coding	Pathogenic
11	124924867	T	G	T124924867G	HEPACAM	NM_152722.5(HEPACAM):c.288A>C:p.Arg96=	coding	Benign
11	124924880	C	T	C124924880T	HEPACAM	NM_152722.5(HEPACAM):c.275G>A:p.Arg92Gln	coding	Pathogenic
11	124924881	G	A	G124924881A	HEPACAM	NM_152722.5(HEPACAM):c.274C>T:p.Arg92Trp	coding	Pathogenic
11	124924889	C	T	C124924889T	HEPACAM	NM_152722.5(HEPACAM):c.266G>A:p.Gly89Asp	coding	Pathogenic
11	124924890	C	T	C124924890T	HEPACAM	NM_152722.5(HEPACAM):c.265G>A:p.Gly89Ser	coding	Pathogenic
11	124924897	C	T	C124924897T	HEPACAM	NM_152722.5(HEPACAM):c.258G>A:p.Glu86=	coding	Benign
11	124924921	G	A	G124924921A	HEPACAM	NM_152722.5(HEPACAM):c.234C>T:p.Thr78=	coding	Benign/Likely_benign
11	124935999	C	G	C124935999G	HEPACAM	NM_152722.5(HEPACAM):c.8G>C:p.Arg3Thr	coding	Benign/Likely_benign
11	124936034	C	T	C124936034T	HEPACAM	NM_152722.5(HEPACAM):c.-28G>A	noncoding	Benign
11	124954762	T	C	T124954762C	CCDC15	NM_025004.3(CCDC15):c.30T>C:p.Pro10=	coding	Benign
11	124959828	G	C	G124959828C	CCDC15	NM_025004.3(CCDC15):c.341G>C:p.Gly114Ala	coding	Benign
11	125097715	C	T	C125097715T	TMEM218	NM_001258243.1:c.344G>A	coding	Pathogenic
11	125097716	G	A	G125097716A	TMEM218	NM_001258243.1:c.343C>T	coding	Pathogenic
11	125101239	G	A	G125101239A	TMEM218	NM_001258243.1:c.280C>T	coding	Pathogenic
11	125102216	C	A	C125102216A	TMEM218	NM_001258243.1:c.131G>T	coding	Pathogenic
11	125446118	C	T	C125446118T	FEZ1	NM_005103.5(FEZ1):c.1163-7G>A	noncoding	Benign
11	125452358	C	G	C125452358G	FEZ1	NM_005103.5(FEZ1):c.1072G>C:p.Glu358Gln	coding	Benign
11	125452365	G	A	G125452365A	FEZ1	NM_005103.5(FEZ1):c.1065C>T:p.Pro355=	coding	Benign
11	125454123	C	T	C125454123T	FEZ1	NM_005103.5(FEZ1):c.1020+7G>A	noncoding	Benign
11	125595967	T	C	T125595967C	STT3A	NM_152713.5(STT3A):c.52T>C:p.Leu18=	coding	Benign
11	125596010	G	T	G125596010T	STT3A	NM_152713.5(STT3A):c.88+7G>T	noncoding	Benign
11	125606357	C	G	C125606357G	STT3A	NM_152713.5(STT3A):c.672C>G:p.Leu224=	coding	Benign
11	125609468	G	A	G125609468A	STT3A	NM_152713.5(STT3A):c.996G>A:p.Ser332=	coding	Benign
11	125609601	C	T	C125609601T	STT3A	NM_152713.5(STT3A):c.1117+12C>T	noncoding	Benign
11	125612755	G	A	G125612755A	STT3A	NM_152713.5(STT3A):c.1365+8G>A	noncoding	Benign
11	125613087	T	C	T125613087C	STT3A	NM_152713.5(STT3A):c.1464T>C:p.Ile488=	coding	Benign
11	125614149	A	G	A125614149G	STT3A	NM_152713.5(STT3A):c.1617A>G:p.Thr539=	coding	Benign
11	125614374	T	C	T125614374C	STT3A	NM_152713.5(STT3A):c.1722T>C:p.Asp574=	coding	Benign
11	125618475	T	C	T125618475C	STT3A	NM_152713.5(STT3A):c.1877T>C:p.Val626Ala	coding	Pathogenic
11	125618509	C	T	C125618509T	STT3A	NM_152713.5(STT3A):c.1911C>T:p.Cys637=	coding	Benign
11	125643806	C	T	C125643806T	CHEK1	NM_001114121.2(CHEK1):c.829C>T:p.Arg277Ter	coding	Pathogenic
11	125644503	G	A	G125644503A	CHEK1	NM_001114121.2(CHEK1):c.1102-9G>A	noncoding	Benign
11	125653772	A	G	A125653772G	CHEK1	NM_001114121.2(CHEK1):c.1260A>G:p.Arg420=	coding	Benign
11	125655300	A	G	A125655300G	CHEK1	NM_001114121.2(CHEK1):c.1411A>G:p.Ile471Val	coding	Benign
11	125893928	G	A	G125893928A	PUS3	NM_031307.4(PUS3):c.1303C>T:p.Arg435Ter	coding	Pathogenic/Likely_pathogenic
11	125893967	C	T	C125893967T	PUS3	NM_031307.4(PUS3):c.1264G>A:p.Gly422Arg	coding	Benign
11	125894142	A	G	A125894142G	PUS3	NM_031307.4(PUS3):c.1089T>C:p.Tyr363=	coding	Benign
11	125894220	G	A	G125894220A	PUS3	NM_031307.4(PUS3):c.1011C>T:p.Asp337=	coding	Benign
11	125896146	C	T	C125896146T	PUS3	NM_031307.4(PUS3):c.139G>A:p.Gly47Arg	coding	Benign
11	125896258	G	A	G125896258A	PUS3	NM_031307.4(PUS3):c.27C>T:p.Asn9=	coding	Benign
11	125899392	A	G	A125899392G	HYLS1	NM_031307.4(PUS3):c.-46-3062T>C	coding	Benign
11	125899454	A	C	A125899454C	HYLS1	NM_031307.4(PUS3):c.-46-3124T>G	coding	Benign
11	125899459	T	C	T125899459C	HYLS1	NM_031307.4(PUS3):c.-46-3129A>G	coding	Benign
11	125899641	G	T	G125899641T	HYLS1	NM_031307.4(PUS3):c.-46-3311C>A	coding	Benign
11	125899836	A	G	A125899836G	HYLS1	NM_031307.4(PUS3):c.-47+3334T>C	coding	Benign
11	125900000	A	G	A125900000G	PUS3;HYLS1	NM_031307.4(PUS3):c.-47+3170T>C	coding	Pathogenic
11	125908410	C	T	C125908410T	DDX25	NM_013264.5(DDX25):c.414C>T:p.Asn138=	coding	Benign
11	125910358	C	T	C125910358T	DDX25	NM_013264.5(DDX25):c.508-6C>T	noncoding	Benign
11	125956807	G	A	G125956807A	CDON	NM_016952.4(CDON):c.*4135C>T	noncoding	Benign
11	125956862	C	T	C125956862T	CDON	NM_016952.4(CDON):c.*4080G>A	noncoding	Benign
11	125956890	G	A	G125956890A	CDON	NM_016952.4(CDON):c.*4052C>T	noncoding	Benign
11	125956942	G	A	G125956942A	CDON	NM_016952.5(CDON):c.*4000C>T	noncoding	Benign
11	125957058	A	C	A125957058C	CDON	NM_016952.4(CDON):c.*3884T>G	noncoding	Benign
11	125957080	C	A	C125957080A	CDON	NM_016952.4(CDON):c.*3862G>T	noncoding	Benign
11	125957112	C	T	C125957112T	CDON	NM_016952.4(CDON):c.*3830G>A	noncoding	Benign
11	125957165	C	T	C125957165T	CDON	NM_016952.5(CDON):c.*3777G>A	noncoding	Benign
11	125957177	G	A	G125957177A	CDON	NM_016952.4(CDON):c.*3765C>T	noncoding	Benign
11	125957314	G	C	G125957314C	CDON	NM_016952.4(CDON):c.*3628C>G	noncoding	Benign
11	125957428	T	C	T125957428C	CDON	NM_016952.5(CDON):c.*3514A>G	noncoding	Benign
11	125957452	A	G	A125957452G	CDON	NM_016952.4(CDON):c.*3490T>C	noncoding	Benign
11	125957518	A	G	A125957518G	CDON	NM_016952.4(CDON):c.*3424T>C	noncoding	Benign
11	125957533	A	C	A125957533C	CDON	NM_016952.4(CDON):c.*3409T>G	noncoding	Benign
11	125957801	T	C	T125957801C	CDON	NM_016952.4(CDON):c.*3141A>G	noncoding	Benign
11	125957866	A	T	A125957866T	CDON	NM_016952.4(CDON):c.*3076T>A	noncoding	Benign
11	125957950	A	G	A125957950G	CDON	NM_016952.4(CDON):c.*2992T>C	noncoding	Benign
11	125958112	T	C	T125958112C	CDON	NM_016952.4(CDON):c.*2830A>G	noncoding	Benign
11	125958193	G	C	G125958193C	CDON	NM_016952.4(CDON):c.*2749C>G	noncoding	Benign
11	125958202	A	G	A125958202G	CDON	NM_016952.4(CDON):c.*2740T>C	noncoding	Benign
11	125958208	C	T	C125958208T	CDON	NM_016952.4(CDON):c.*2734G>A	noncoding	Benign
11	125958225	G	A	G125958225A	CDON	NM_016952.4(CDON):c.*2717C>T	noncoding	Benign
11	125958369	C	T	C125958369T	CDON	NM_016952.4(CDON):c.*2573G>A	noncoding	Benign
11	125958563	A	G	A125958563G	CDON	NM_016952.4(CDON):c.*2379T>C	noncoding	Benign
11	125958595	A	G	A125958595G	CDON	NM_016952.5(CDON):c.*2347T>C	noncoding	Benign
11	125958597	A	T	A125958597T	CDON	NM_016952.5(CDON):c.*2345T>A	noncoding	Benign
11	125958651	A	G	A125958651G	CDON	NM_016952.4(CDON):c.*2291T>C	noncoding	Benign
11	125958678	G	A	G125958678A	CDON	NM_016952.4(CDON):c.*2264C>T	noncoding	Benign
11	125958845	C	T	C125958845T	CDON	NM_016952.4(CDON):c.*2097G>A	noncoding	Benign
11	125958918	G	A	G125958918A	CDON	NM_016952.5(CDON):c.*2024C>T	noncoding	Benign
11	125958939	G	C	G125958939C	CDON	NM_016952.4(CDON):c.*2003C>G	noncoding	Benign
11	125959009	T	C	T125959009C	CDON	NM_016952.4(CDON):c.*1933A>G	noncoding	Benign
11	125959271	C	T	C125959271T	CDON	NM_016952.5(CDON):c.*1671G>A	noncoding	Benign
11	125959610	A	C	A125959610C	CDON	NM_016952.4(CDON):c.*1332T>G	noncoding	Benign
11	125959635	A	C	A125959635C	CDON	NM_016952.4(CDON):c.*1307T>G	noncoding	Benign
11	125959881	A	G	A125959881G	CDON	NM_016952.4(CDON):c.*1061T>C	noncoding	Benign
11	125959926	G	A	G125959926A	CDON	NM_016952.4(CDON):c.*1016C>T	noncoding	Benign
11	125959959	T	C	T125959959C	CDON	NM_016952.4(CDON):c.*983A>G	noncoding	Benign
11	125960026	C	T	C125960026T	CDON	NM_016952.4(CDON):c.*916G>A	noncoding	Benign
11	125960031	A	G	A125960031G	CDON	NM_016952.4(CDON):c.*911T>C	noncoding	Benign
11	125960045	A	G	A125960045G	CDON	NM_016952.4(CDON):c.*897T>C	noncoding	Benign
11	125960071	G	A	G125960071A	CDON	NM_016952.4(CDON):c.*871C>T	noncoding	Benign
11	125960078	C	T	C125960078T	CDON	NM_016952.4(CDON):c.*864G>A	noncoding	Benign
11	125960664	A	G	A125960664G	CDON	NM_016952.4(CDON):c.*278T>C	noncoding	Benign
11	125960775	T	C	T125960775C	CDON	NM_016952.5(CDON):c.*167A>G	noncoding	Benign
11	125960802	T	C	T125960802C	CDON	NM_016952.4(CDON):c.*140A>G	noncoding	Benign
11	125960930	G	A	G125960930A	CDON	NM_016952.4(CDON):c.*12C>T	noncoding	Benign
11	125961011	T	G	T125961011G	CDON	NM_016952.4(CDON):c.3726A>C:p.Thr1242=	coding	Benign/Likely_benign
11	125961075	A	T	A125961075T	CDON	NM_016952.4(CDON):c.3662T>A:p.Ile1221Asn	coding	Benign
11	125961767	G	A	G125961767A	CDON	NM_016952.4(CDON):c.3588C>T:p.Asp1196=	coding	Benign
11	125961796	G	A	G125961796A	CDON	NM_016952.4(CDON):c.3559C>T:p.Arg1187Cys	coding	Benign/Likely_benign
11	125961806	G	A	G125961806A	CDON	NM_016952.4(CDON):c.3549C>T:p.Val1183=	coding	Benign
11	125961829	C	T	C125961829T	CDON	NM_016952.4(CDON):c.3526G>A:p.Val1176Ile	coding	Benign
11	125961896	A	G	A125961896G	CDON	NM_016952.4(CDON):c.3459T>C:p.Ser1153=	coding	Benign
11	125978366	C	T	C125978366T	CDON	NM_016952.4(CDON):c.3294G>A:p.Thr1098=	coding	Benign
11	125981134	C	T	C125981134T	CDON	NM_016952.4(CDON):c.3191G>A:p.Ser1064Asn	coding	Benign/Likely_benign
11	125981160	A	G	A125981160G	CDON	NM_016952.4(CDON):c.3165T>C:p.Asn1055=	coding	Benign
11	125981169	C	T	C125981169T	CDON	NM_016952.4(CDON):c.3156G>A:p.Lys1052=	coding	Benign
11	125981286	G	A	G125981286A	CDON	NM_016952.4(CDON):c.3039C>T:p.Asn1013=	coding	Benign
11	125983944	C	T	C125983944T	CDON	NM_016952.4(CDON):c.2923G>A:p.Val975Ile	coding	Benign
11	125984049	T	G	T125984049G	CDON	NM_016952.4(CDON):c.2818A>C:p.Ser940Arg	coding	Pathogenic
11	125989646	C	T	C125989646T	CDON	NM_016952.5(CDON):c.2764G>A:p.Glu922Lys	coding	Pathogenic
11	125994311	T	C	T125994311C	CDON	NM_016952.4(CDON):c.2623A>G:p.Ser875Gly	coding	Benign/Likely_benign
11	125994431	T	C	T125994431C	CDON	NM_016952.4(CDON):c.2545-42A>G	noncoding	Benign
11	125995023	T	C	T125995023C	CDON	NM_016952.4(CDON):c.2392A>G:p.Ile798Val	coding	Benign
11	125995047	T	C	T125995047C	CDON	NM_016952.4(CDON):c.2368A>G:p.Thr790Ala	coding	Pathogenic
11	125997158	G	T	G125997158T	CDON	NM_016952.4(CDON):c.2362+49C>A	noncoding	Benign
11	125997230	A	T	A125997230T	CDON	NM_016952.4(CDON):c.2339T>A:p.Val780Glu	coding	Pathogenic
11	125997290	C	T	C125997290T	CDON	NM_016952.4(CDON):c.2279G>A:p.Arg760Gln	coding	Benign
11	126001738	A	G	A126001738G	CDON	NM_016952.4(CDON):c.2139T>C:p.Asp713=	coding	Benign
11	126001820	G	A	G126001820A	CDON	NM_016952.4(CDON):c.2057C>T:p.Ala686Val	coding	Benign
11	126001826	G	C	G126001826C	CDON	NM_016952.4(CDON):c.2051C>G:p.Thr684Ser	coding	Benign/Likely_benign
11	126001840	C	T	C126001840T	CDON	NM_016952.4(CDON):c.2037G>A:p.Ala679=	coding	Benign
11	126005745	C	T	C126005745T	CDON	NM_016952.4(CDON):c.1851+14G>A	noncoding	Benign
11	126005792	C	A	C126005792A	CDON	NM_016952.4(CDON):c.1818G>T:p.Leu606=	coding	Benign
11	126005939	C	T	C126005939T	CDON	NM_016952.4(CDON):c.1671G>A:p.Lys557=	coding	Benign
11	126006007	C	T	C126006007T	CDON	NM_016952.4(CDON):c.1603G>A:p.Ala535Thr	coding	Benign
11	126010393	G	A	G126010393A	CDON	NM_016952.4(CDON):c.1500C>T:p.Cys500=	coding	Benign
11	126010583	C	T	C126010583T	CDON	NM_016952.4(CDON):c.1310G>A:p.Arg437His	coding	Benign
11	126010597	C	T	C126010597T	CDON	NM_016952.4(CDON):c.1296G>A:p.Pro432=	coding	Benign
11	126015388	G	C	G126015388C	CDON	NM_016952.4(CDON):c.1051C>G:p.Pro351Ala	coding	Benign
11	126017290	C	T	C126017290T	CDON	NM_016952.4(CDON):c.726G>A:p.Glu242=	coding	Benign
11	126017416	C	T	C126017416T	CDON	NM_016952.4(CDON):c.641-41G>A	noncoding	Benign
11	126018318	C	T	C126018318T	CDON	NM_016952.4(CDON):c.640+12G>A	noncoding	Benign
11	126019569	A	G	A126019569G	CDON	NM_016952.4(CDON):c.496+50T>C	noncoding	Benign
11	126019574	G	A	G126019574A	CDON	NM_016952.4(CDON):c.496+45C>T	noncoding	Benign
11	126019631	C	T	C126019631T	CDON	NM_016952.4(CDON):c.484G>A:p.Glu162Lys	coding	Benign
11	126019778	A	G	A126019778G	CDON	NM_016952.4(CDON):c.350-13T>C	noncoding	Benign
11	126021267	A	G	A126021267G	CDON	NM_016952.4(CDON):c.330T>C:p.Pro110=	coding	Benign
11	126021353	G	A	G126021353A	CDON	NM_016952.5(CDON):c.244C>T:p.Leu82=	coding	Benign
11	126021374	C	T	C126021374T	CDON	NM_016952.4(CDON):c.223G>A:p.Val75Ile	coding	Benign
11	126021400	T	C	T126021400C	CDON	NM_016952.4(CDON):c.197A>G:p.Lys66Arg	coding	Benign
11	126023380	C	T	C126023380T	CDON	NM_016952.4(CDON):c.76+21G>A	noncoding	Benign
11	126023468	C	T	C126023468T	CDON	NM_016952.4(CDON):c.9G>A:p.Pro3=	coding	Benign
11	126023527	T	G	T126023527G	CDON	NM_016952.4(CDON):c.-51A>C	noncoding	Benign
11	126023533	G	A	G126023533A	CDON	NM_016952.4(CDON):c.-57C>T	noncoding	Benign
11	126265094	G	C	G126265094C	SRPRA	NM_003139.4(SRPRA):c.1390C>G:p.Gln464Glu	coding	Pathogenic
11	126269205	T	C	T126269205C	FOXRED1	NM_017547.4(FOXRED1):c.-2T>C	noncoding	Benign
11	126271436	G	A	G126271436A	FOXRED1	NM_017547.4(FOXRED1):c.86-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	126273068	C	T	C126273068T	FOXRED1	NM_017547.4(FOXRED1):c.406C>T:p.Arg136Trp	coding	Pathogenic/Likely_pathogenic
11	126273095	T	C	T126273095C	FOXRED1	NM_017547.4(FOXRED1):c.417+16T>C	noncoding	Benign
11	126275389	C	T	C126275389T	FOXRED1	NM_017547.4(FOXRED1):c.694C>T:p.Gln232Ter	coding	Pathogenic
11	126276235	A	G	A126276235G	FOXRED1	NM_017547.4(FOXRED1):c.971+16A>G	noncoding	Benign
11	126276476	C	T	C126276476T	FOXRED1	NM_017547.4(FOXRED1):c.1054C>T:p.Arg352Trp	coding	Pathogenic
11	126277489	G	A	G126277489A	FOXRED1	NM_017547.4(FOXRED1):c.1261G>A:p.Val421Met	coding	Pathogenic/Likely_pathogenic
11	126277517	A	G	A126277517G	FOXRED1	NM_017547.4(FOXRED1):c.1289A>G:p.Asn430Ser	coding	Pathogenic
11	126277802	G	A	G126277802A	FOXRED1	NM_017547.4(FOXRED1):c.*113G>A	noncoding	Benign
11	126277818	C	G	C126277818G	FOXRED1	NM_017547.4(FOXRED1):c.*129C>G	noncoding	Benign
11	126304283	T	C	T126304283C	DCPS	NM_014026.6(DCPS):c.201+2T>C	noncoding	Pathogenic
11	126306628	C	T	C126306628T	DCPS	NM_014026.6(DCPS):c.260C>T:p.Thr87Met	coding	Pathogenic
11	126338321	G	A	G126338321A	DCPS	NM_014026.6(DCPS):c.558G>A:p.Ala186=	coding	Benign
11	126338400	G	A	G126338400A	DCPS	NM_014026.6(DCPS):c.636+1G>A	coding	Pathogenic
11	126343347	G	A	G126343347A	DCPS	NM_014026.6(DCPS):c.677G>A:p.Gly226Asp	coding	Benign/Likely_benign
11	126343387	G	A	G126343387A	DCPS	NM_014026.6(DCPS):c.717G>A:p.Pro239=	coding	Benign
11	126345403	C	T	C126345403T	DCPS	NM_014026.6(DCPS):c.804C>T:p.His268=	coding	Benign
11	126345505	C	T	C126345505T	DCPS	NM_014026.6(DCPS):c.906C>T:p.Ile302=	coding	Benign
11	126345546	C	T	C126345546T	DCPS	NM_014026.6(DCPS):c.947C>T:p.Thr316Met	coding	Pathogenic/Likely_pathogenic
11	126345612	G	A	G126345612A	DCPS	NM_014026.6(DCPS):c.1013G>A:p.Ter338=	coding	Benign
11	126407321	C	T	C126407321T	ST3GAL4	NM_001254757.2(ST3GAL4):c.252C>T:p.Tyr84=	coding	Benign
11	126408180	C	T	C126408180T	ST3GAL4	NM_001254757.2(ST3GAL4):c.423C>T:p.Tyr141=	coding	Benign
11	126408308	T	C	T126408308C	ST3GAL4	NM_001254757.2(ST3GAL4):c.439T>C:p.Leu147=	coding	Benign
11	126424766	G	A	G126424766A	KIRREL3	NM_032531.4(KIRREL3):c.2151C>T:p.Ser717=	coding	Benign
11	126424799	A	C	A126424799C	KIRREL3	NM_032531.4(KIRREL3):c.2118T>G:p.Leu706=	coding	Benign
11	126424934	C	T	C126424934T	KIRREL3	NM_032531.4(KIRREL3):c.1983G>A:p.Leu661=	coding	Benign/Likely_benign
11	126429194	G	A	G126429194A	KIRREL3	NM_032531.4(KIRREL3):c.1791C>T:p.Thr597=	coding	Benign
11	126436893	C	T	C126436893T	KIRREL3	NM_032531.4(KIRREL3):c.1470G>A:p.Arg490=	coding	Benign
11	126436977	C	T	C126436977T	KIRREL3	NM_032531.4(KIRREL3):c.1386G>A:p.Ser462=	coding	Benign
11	126446890	C	T	C126446890T	KIRREL3	NM_032531.4(KIRREL3):c.998-4G>A	noncoding	Benign
11	126449136	G	T	G126449136T	KIRREL3	NM_032531.4(KIRREL3):c.870C>A:p.Ile290=	coding	Benign
11	126562880	C	T	C126562880T	KIRREL3	NM_032531.4(KIRREL3):c.88G>A:p.Val30Met	coding	Benign
11	128480393	G	A	G128480393A	ETS1	NM_001143820.2(ETS1):c.921C>T:p.Arg307=	coding	Benign
11	128486082	C	T	C128486082T	ETS1	NM_001143820.2(ETS1):c.600G>A:p.Ser200=	coding	Benign
11	128556402	G	T	G128556402T	ETS1	NM_001143820.2(ETS1):c.103C>A:p.Arg35=	coding	Benign
11	128573095	G	A	G128573095A	ETS1	NM_001143820.2(ETS1):c.36C>T:p.Pro12=	coding	Benign
11	128758207	G	A	G128758207A	FLI1	NM_002017.5(FLI1):c.111G>A:p.Ser37=	coding	Benign
11	128758291	C	T	C128758291T	FLI1	NM_002017.5(FLI1):c.195C>T:p.Asn65=	coding	Benign
11	128768166	C	T	C128768166T	FLI1	NM_002017.5(FLI1):c.279C>T:p.Gly93=	coding	Benign
11	128807205	G	C	G128807205C	FLI1	NM_002017.5(FLI1):c.747G>C:p.Thr249=	coding	Benign
11	128810599	C	T	C128810599T	FLI1	NM_002017.5(FLI1):c.970C>T:p.Arg324Trp	coding	Pathogenic
11	128810657	A	G	A128810657G	FLI1	NM_002017.5(FLI1):c.1028A>G:p.Tyr343Cys	coding	Pathogenic
11	128810662	A	G	A128810662G	FLI1	NM_002017.5(FLI1):c.1033A>G:p.Lys345Glu	coding	Pathogenic
11	128838080	G	C	G128838080C	KCNJ1	NM_000220.5(KCNJ1):c.*1045C>G	noncoding	Benign
11	128838114	G	A	G128838114A	KCNJ1	NM_000220.5(KCNJ1):c.*1011C>T	noncoding	Benign
11	128838449	T	C	T128838449C	KCNJ1	NM_000220.5(KCNJ1):c.*676A>G	noncoding	Benign
11	128838777	G	A	G128838777A	KCNJ1	NM_000220.5(KCNJ1):c.*348C>T	noncoding	Benign
11	128839052	T	A	T128839052A	KCNJ1	NM_000220.5(KCNJ1):c.*73A>T	noncoding	Benign
11	128839231	A	G	A128839231G	KCNJ1	NM_000220.5(KCNJ1):c.1070T>C:p.Met357Thr	coding	Benign
11	128839377	G	T	G128839377T	KCNJ1	NM_000220.5(KCNJ1):c.924C>A:p.Cys308Ter	coding	Pathogenic
11	128839643	G	A	G128839643A	KCNJ1	NM_153766.3(KCNJ1):c.601C>T:p.Leu201Phe	coding	Pathogenic/Likely_pathogenic
11	128839644	G	C	G128839644C	KCNJ1	NM_000220.5(KCNJ1):c.657C>G:p.Ser219Arg	coding	Pathogenic
11	128839660	G	A	G128839660A	KCNJ1	NM_000220.5(KCNJ1):c.641C>T:p.Ala214Val	coding	Pathogenic
11	128839709	C	T	C128839709T	KCNJ1	NM_000220.5(KCNJ1):c.592G>A:p.Ala198Thr	coding	Pathogenic
11	128839723	G	A	G128839723A	KCNJ1	NM_153766.3(KCNJ1):c.521C>T:p.Thr174Met	coding	Benign
11	128839801	C	T	C128839801T	KCNJ1	NM_000220.5(KCNJ1):c.500G>A:p.Gly167Glu	coding	Pathogenic
11	128839929	A	T	A128839929T	KCNJ1	NM_000220.5(KCNJ1):c.372T>A:p.Asn124Lys	coding	Pathogenic
11	128839979	C	G	C128839979G	KCNJ1	NM_000220.5(KCNJ1):c.322G>C:p.Asp108His	coding	Pathogenic
11	128839982	T	A	T128839982A	KCNJ1	NM_153767.3(KCNJ1):c.262A>T:p.Lys88Ter	coding	Pathogenic
11	128839992	C	T	C128839992T	KCNJ1	NM_153766.3(KCNJ1):c.252G>A:p.Ala84=	coding	Benign
11	128840045	T	C	T128840045C	KCNJ1	NM_000220.5(KCNJ1):c.256A>G:p.Thr86Ala	coding	Benign/Likely_benign
11	128840064	G	C	G128840064C	KCNJ1	NM_000220.5(KCNJ1):c.237C>G:p.Tyr79Ter	coding	Pathogenic
11	128840199	C	T	C128840199T	KCNJ1	NM_000220.5(KCNJ1):c.102G>A:p.Gly34=	coding	Benign/Likely_benign
11	128891455	G	A	G128891455A	KCNJ5	NM_000890.5(KCNJ5):c.-277G>A	noncoding	Benign
11	128902706	T	C	T128902706C	C11orf45	NM_000890.5(KCNJ5):c.-10-8558T>C	coding	Benign
11	128911394	C	T	C128911394T	KCNJ5	NM_000890.5(KCNJ5):c.121C>T:p.Arg41Cys	coding	Benign/Likely_benign
11	128911444	T	C	T128911444C	KCNJ5	NM_000890.5(KCNJ5):c.171T>C:p.Ser57=	coding	Benign
11	128911465	C	T	C128911465T	KCNJ5	NM_000890.5(KCNJ5):c.192C>T:p.His64=	coding	Benign/Likely_benign
11	128911546	C	T	C128911546T	KCNJ5	NM_000890.5(KCNJ5):c.273C>T:p.Leu91=	coding	Benign/Likely_benign
11	128911585	C	T	C128911585T	KCNJ5	NM_000890.5(KCNJ5):c.312C>T:p.Phe104=	coding	Benign
11	128911724	G	A	G128911724A	KCNJ5	NM_000890.5(KCNJ5):c.451G>A:p.Gly151Arg	coding	Pathogenic/Likely_pathogenic
11	128911725	G	A	G128911725A	KCNJ5	NM_000890.5(KCNJ5):c.452G>A:p.Gly151Glu	coding	Pathogenic
11	128911743	T	G	T128911743G	KCNJ5	NM_000890.5(KCNJ5):c.470T>G:p.Ile157Ser	coding	Pathogenic
11	128911745	A	G	A128911745G	KCNJ5	NM_000890.5(KCNJ5):c.472A>G:p.Thr158Ala	coding	Pathogenic
11	128912009	G	A	G128912009A	KCNJ5	NM_000890.5(KCNJ5):c.736G>A:p.Glu246Lys	coding	Pathogenic
11	128912011	G	A	G128912011A	KCNJ5	NM_000890.5(KCNJ5):c.738G>A:p.Glu246=	coding	Benign/Likely_benign
11	128912017	G	A	G128912017A	KCNJ5	NM_000890.5(KCNJ5):c.744G>A:p.Glu248=	coding	Benign/Likely_benign
11	128912065	C	T	C128912065T	KCNJ5	NM_000890.5(KCNJ5):c.792C>T:p.Gly264=	coding	Benign/Likely_benign
11	128912083	T	G	T128912083G	KCNJ5	NM_000890.5(KCNJ5):c.810T>G:p.Leu270=	coding	Benign
11	128912107	T	C	T128912107C	KCNJ5	NM_000890.5(KCNJ5):c.834T>C:p.His278=	coding	Benign
11	128912110	G	A	G128912110A	KCNJ5	NM_000890.5(KCNJ5):c.837G>A:p.Glu279=	coding	Benign/Likely_benign
11	128912117	C	G	C128912117G	KCNJ5	NM_000890.5(KCNJ5):c.844C>G:p.Gln282Glu	coding	Benign
11	128912217	C	T	C128912217T	KCNJ5	NM_000890.5(KCNJ5):c.937+7C>T	noncoding	Benign
11	128912319	G	A	G128912319A	KCNJ5	NM_000890.5(KCNJ5):c.937+109G>A	noncoding	Benign
11	128916398	C	T	C128916398T	KCNJ5	NM_000890.5(KCNJ5):c.938-11C>T	noncoding	Benign
11	128916399	G	A	G128916399A	KCNJ5	NM_000890.5(KCNJ5):c.938-10G>A	noncoding	Benign
11	128916428	G	A	G128916428A	KCNJ5	NM_000890.5(KCNJ5):c.957G>A:p.Arg319=	coding	Benign/Likely_benign
11	128916604	A	C	A128916604C	KCNJ5	NM_000890.5(KCNJ5):c.1133A>C:p.Gln378Pro	coding	Benign
11	128916620	C	T	C128916620T	KCNJ5	NM_000890.5(KCNJ5):c.1149C>T:p.Pro383=	coding	Benign/Likely_benign
11	128916725	G	A	G128916725A	KCNJ5	NM_000890.5(KCNJ5):c.1254G>A:p.Ser418=	coding	Benign/Likely_benign
11	128916765	G	T	G128916765T	KCNJ5	NM_000890.5(KCNJ5):c.*34G>T	noncoding	Benign/Likely_benign
11	128916827	G	A	G128916827A	KCNJ5	NM_000890.5(KCNJ5):c.*96G>A	noncoding	Benign/Likely_benign
11	128916852	G	T	G128916852T	KCNJ5	NM_000890.5(KCNJ5):c.*121G>T	noncoding	Benign/Likely_benign
11	128917141	C	T	C128917141T	KCNJ5	NM_000890.5(KCNJ5):c.*410C>T	noncoding	Benign
11	128917259	C	T	C128917259T	KCNJ5	NM_000890.5(KCNJ5):c.*528C>T	noncoding	Benign
11	128917278	G	A	G128917278A	KCNJ5	NM_000890.5(KCNJ5):c.*547G>A	noncoding	Benign/Likely_benign
11	128917490	C	T	C128917490T	KCNJ5	NM_000890.5(KCNJ5):c.*759C>T	noncoding	Benign/Likely_benign
11	128917510	G	T	G128917510T	KCNJ5	NM_000890.5(KCNJ5):c.*779G>T	noncoding	Benign
11	128917526	G	A	G128917526A	KCNJ5	NM_000890.5(KCNJ5):c.*795G>A	noncoding	Benign
11	128917535	G	T	G128917535T	KCNJ5	NM_000890.5(KCNJ5):c.*804G>T	noncoding	Benign
11	128917659	C	T	C128917659T	KCNJ5	NM_000890.5(KCNJ5):c.*928C>T	noncoding	Benign
11	128917667	C	T	C128917667T	KCNJ5	NM_000890.5(KCNJ5):c.*936C>T	noncoding	Benign/Likely_benign
11	128917707	G	A	G128917707A	KCNJ5	NM_000890.5(KCNJ5):c.*976G>A	noncoding	Benign
11	128917708	T	C	T128917708C	KCNJ5	NM_000890.5(KCNJ5):c.*977T>C	noncoding	Benign/Likely_benign
11	128917794	G	A	G128917794A	KCNJ5	NM_000890.5(KCNJ5):c.*1063G>A	noncoding	Benign
11	128917822	G	A	G128917822A	KCNJ5	NM_000890.5(KCNJ5):c.*1091G>A	noncoding	Benign/Likely_benign
11	128968955	G	A	G128968955A	ARHGAP32	NM_001142685.1(ARHGAP32):c.6216C>T:p.Pro2072=	coding	Benign
11	128970037	G	A	G128970037A	ARHGAP32	NM_001142685.1(ARHGAP32):c.5134C>T:p.Arg1712Trp	coding	Benign
11	128970974	G	A	G128970974A	ARHGAP32	NM_001142685.1(ARHGAP32):c.4197C>T:p.Ala1399=	coding	Benign
11	128970977	G	A	G128970977A	ARHGAP32	NM_001142685.1(ARHGAP32):c.4194C>T:p.Arg1398=	coding	Benign
11	128972712	G	A	G128972712A	ARHGAP32	NM_001142685.1(ARHGAP32):c.3752C>T:p.Ser1251Phe	coding	Benign
11	128972821	A	G	A128972821G	ARHGAP32	NM_001142685.1(ARHGAP32):c.3643T>C:p.Ser1215Pro	coding	Benign
11	128973045	T	C	T128973045C	ARHGAP32	NM_001142685.1(ARHGAP32):c.3419A>G:p.Glu1140Gly	coding	Benign
11	128976582	T	C	T128976582C	ARHGAP32	NM_001142685.1(ARHGAP32):c.2133A>G:p.Thr711=	coding	Benign
11	129123540	A	G	A129123540G	ARHGAP32	NM_001142685.1(ARHGAP32):c.318-10T>C	noncoding	Benign
11	129124844	C	T	C129124844T	ARHGAP32	NM_001142685.1(ARHGAP32):c.276G>A:p.Thr92=	coding	Benign
11	129164376	T	C	T129164376C	ARHGAP32	NM_001142685.1(ARHGAP32):c.168A>G:p.Leu56=	coding	Benign
11	129437028	G	A	G129437028A	BARX2	NM_003658.5(BARX2):c.465G>A:p.Gln155=	coding	Benign
11	129451317	G	A	G129451317A	BARX2	NM_003658.5(BARX2):c.755G>A:p.Arg252His	coding	Benign
11	129910599	A	T	A129910599T	PRDM10	NM_199437.2(PRDM10):c.3040T>A:p.Ser1014Thr	coding	Benign
11	129931127	T	C	T129931127C	PRDM10	NM_199437.2(PRDM10):c.1419A>G:p.Glu473=	coding	Benign
11	129942635	C	T	C129942635T	PRDM10	NM_199437.2(PRDM10):c.763-6G>A	noncoding	Benign
11	129944828	G	A	G129944828A	PRDM10	NM_020228.3(PRDM10):c.705C>T:p.Pro235=	coding	Benign
11	129947260	T	C	T129947260C	PRDM10	NM_199437.2(PRDM10):c.405A>G:p.Glu135=	coding	Benign
11	129957805	T	A	T129957805A	PRDM10	NM_020228.3(PRDM10):c.175A>T:p.Thr59Ser	coding	Benign
11	130122522	A	C	A130122522C	APLP2	NM_001142276.2(APLP2):c.922+9A>C	noncoding	Benign
11	130140492	G	A	G130140492A	APLP2	NM_001142276.2(APLP2):c.1923+9G>A	noncoding	Benign
11	130159982	G	A	G130159982A	ST14	NM_021978.4(ST14):c.3G>A:p.Met1Ile	coding	Pathogenic
11	130188603	C	T	C130188603T	ST14	NM_021978.4(ST14):c.315C>T:p.Tyr105=	coding	Benign
11	130189752	A	G	A130189752G	ST14	NM_021978.4(ST14):c.454A>G:p.Ile152Val	coding	Benign
11	130189810	G	A	G130189810A	ST14	NM_021978.4(ST14):c.512G>A:p.Arg171His	coding	Benign
11	130189848	C	T	C130189848T	ST14	NM_021978.4(ST14):c.550C>T:p.Arg184Trp	coding	Benign
11	130190527	C	T	C130190527T	ST14	NM_021978.4(ST14):c.708C>T:p.Ser236=	coding	Benign
11	130190617	G	A	G130190617A	ST14	NM_021978.4(ST14):c.798G>A:p.Ala266=	coding	Benign
11	130194658	G	A	G130194658A	ST14	NM_021978.4(ST14):c.1034G>A:p.Arg345His	coding	Benign
11	130194672	A	G	A130194672G	ST14	NM_021978.4(ST14):c.1048A>G:p.Thr350Ala	coding	Benign
11	130194752	G	A	G130194752A	ST14	NM_021978.4(ST14):c.1113+15G>A	noncoding	Benign
11	130196440	C	T	C130196440T	ST14	NM_021978.4(ST14):c.1215C>T:p.Asn405=	coding	Benign
11	130196458	C	T	C130196458T	ST14	NM_021978.4(ST14):c.1223+10C>T	noncoding	Benign
11	130196606	C	T	C130196606T	ST14	NM_021978.4(ST14):c.1260C>T:p.Ser420=	coding	Benign
11	130196687	C	T	C130196687T	ST14	NM_021978.4(ST14):c.1341C>T:p.Tyr447=	coding	Benign
11	130198312	C	T	C130198312T	ST14	NM_021978.4(ST14):c.1464C>T:p.Cys488=	coding	Benign
11	130198390	C	T	C130198390T	ST14	NM_021978.4(ST14):c.1542C>T:p.Cys514=	coding	Benign
11	130198628	C	T	C130198628T	ST14	NM_021978.4(ST14):c.1684+7C>T	noncoding	Benign
11	130198991	G	A	G130198991A	ST14	NM_021978.4(ST14):c.1729G>A:p.Gly577Arg	coding	Benign
11	130200006	G	A	G130200006A	ST14	NM_021978.4(ST14):c.1863G>A:p.Ala621=	coding	Benign
11	130208575	G	A	G130208575A	ST14	NM_021978.4(ST14):c.2160G>A:p.Pro720=	coding	Benign
11	130208685	G	A	G130208685A	ST14	NM_021978.4(ST14):c.2269+1G>A	coding	Pathogenic
11	130209476	C	T	C130209476T	ST14	NM_021978.4(ST14):c.2304C>T:p.Ile768=	coding	Benign
11	130209529	C	T	C130209529T	ST14	NM_021978.4(ST14):c.2357C>T:p.Pro786Leu	coding	Benign
11	130209734	G	A	G130209734A	ST14	NM_021978.4(ST14):c.2479G>A:p.Gly827Arg	coding	Pathogenic
11	130449676	G	A	G130449676A	ADAMTS15	NM_139055.3(ADAMTS15):c.703G>A:p.Gly235Ser	coding	Benign
11	130473128	C	T	C130473128T	ADAMTS15	NM_139055.3(ADAMTS15):c.2160C>T:p.Ile720=	coding	Benign
11	130473248	C	T	C130473248T	ADAMTS15	NM_139055.3(ADAMTS15):c.2280C>T:p.Ser760=	coding	Benign
11	130473473	G	A	G130473473A	ADAMTS15	NM_139055.3(ADAMTS15):c.2505G>A:p.Pro835=	coding	Benign
11	130473807	C	T	C130473807T	ADAMTS15	NM_139055.3(ADAMTS15):c.2839C>T:p.Leu947=	coding	Benign
11	130880697	G	A	G130880697A	SNX19	NM_014758.2(SNX19):c.2683C>T:p.Arg895Trp	coding	Benign
11	130903384	C	G	C130903384G	SNX19	NM_014758.2(SNX19):c.2444G>C:p.Gly815Ala	coding	Benign
11	131911625	G	T	G131911625T	NTM	NM_001144058.1(NTM):c.144G>T:p.Arg48=	coding	Benign
11	132146402	G	A	G132146402A	NTM	NM_001144058.1(NTM):c.288G>A:p.Thr96=	coding	Benign
11	132657203	G	C	G132657203C	OPCML	NM_001319104.2(OPCML):c.-17C>G	coding	Pathogenic
11	133919890	C	T	C133919890T	IGSF9B	NM_001277285.3(IGSF9B):c.3835G>A:p.Ala1279Thr	coding	Benign
11	133921088	G	A	G133921088A	IGSF9B	NM_001277285.3(IGSF9B):c.2637C>T:p.Phe879=	coding	Benign
11	133931561	G	T	G133931561T	IGSF9B	NM_001277285.3(IGSF9B):c.1260C>A:p.Pro420=	coding	Benign
11	134069084	A	G	A134069084G	JAM3	NM_032801.5(JAM3):c.1A>G:p.Met1Val	coding	Pathogenic
11	134069085	T	G	T134069085G	JAM3	NM_032801.5(JAM3):c.2T>G:p.Met1Arg	coding	Pathogenic
11	134140649	C	T	C134140649T	JAM3	NM_032801.5(JAM3):c.143-8C>T	noncoding	Benign
11	134144269	G	A	G134144269A	JAM3	NM_032801.5(JAM3):c.285G>A:p.Leu95=	coding	Benign
11	134144330	G	A	G134144330A	JAM3	NM_032801.5(JAM3):c.346G>A:p.Glu116Lys	coding	Pathogenic
11	134144831	T	C	T134144831C	JAM3	NM_032801.5(JAM3):c.449T>C:p.Val150Ala	coding	Benign
11	134144995	G	T	G134144995T	JAM3	NM_032801.5(JAM3):c.612+1G>T	coding	Pathogenic
11	134145002	C	A	C134145002A	JAM3	NM_032801.5(JAM3):c.612+8C>A	noncoding	Benign
11	134145989	G	A	G134145989A	JAM3	NM_032801.5(JAM3):c.656G>A:p.Cys219Tyr	coding	Pathogenic
11	134148605	C	T	C134148605T	JAM3	NM_032801.5(JAM3):c.771C>T:p.Ala257=	coding	Benign
11	134148761	T	C	T134148761C	JAM3	NM_032801.5(JAM3):c.843-3T>C	noncoding	Benign
11	134149169	G	A	G134149169A	JAM3	NM_032801.5(JAM3):c.921G>A:p.Ser307=	coding	Benign
11	134157049	G	T	G134157049T	NCAPD3	NM_015261.3(NCAPD3):c.4221C>A:p.His1407Gln	coding	Benign
11	134157939	G	A	G134157939A	NCAPD3	NM_015261.3(NCAPD3):c.4163C>T:p.Thr1388Met	coding	Benign
11	134158027	T	G	T134158027G	NCAPD3	NM_015261.3(NCAPD3):c.4075A>C:p.Lys1359Gln	coding	Benign
11	134158429	C	T	C134158429T	NCAPD3	NM_015261.3(NCAPD3):c.3934G>A:p.Val1312Met	coding	Benign
11	134158470	G	A	G134158470A	NCAPD3	NM_015261.3(NCAPD3):c.3893C>T:p.Pro1298Leu	coding	Benign
11	134159922	A	G	A134159922G	NCAPD3	NM_015261.3(NCAPD3):c.3837T>C:p.Ala1279=	coding	Benign
11	134168023	C	T	C134168023T	NCAPD3	NM_015261.3(NCAPD3):c.3546G>A:p.Gln1182=	coding	Benign
11	134168111	T	G	T134168111G	NCAPD3	NM_015261.3(NCAPD3):c.3458A>C:p.Glu1153Ala	coding	Pathogenic
11	134169054	G	T	G134169054T	NCAPD3	NM_015261.3(NCAPD3):c.3102C>A:p.Ser1034Arg	coding	Benign
11	134178697	G	T	G134178697T	NCAPD3	NM_015261.3(NCAPD3):c.2719C>A:p.Pro907Thr	coding	Benign
11	134185380	C	T	C134185380T	NCAPD3	NM_015261.3(NCAPD3):c.2192G>A:p.Arg731Lys	coding	Benign
11	134185442	A	C	A134185442C	NCAPD3	NM_015261.3(NCAPD3):c.2130T>G:p.Thr710=	coding	Benign
11	134192750	C	T	C134192750T	NCAPD3	NM_015261.3(NCAPD3):c.1984G>A:p.Asp662Asn	coding	Benign
11	134194113	C	T	C134194113T	NCAPD3	NM_015261.3(NCAPD3):c.1727G>A:p.Gly576Asp	coding	Benign
11	134209361	T	C	T134209361C	NCAPD3	NM_015261.3(NCAPD3):c.684A>G:p.Pro228=	coding	Benign
11	134216922	T	C	T134216922C	NCAPD3	NM_015261.3(NCAPD3):c.382+14A>G	noncoding	Pathogenic
11	134253620	G	C	G134253620C	ACAD8	NM_014384.2(ACAD8):c.20G>C:p.Arg7Pro	coding	Benign
11	134256571	C	T	C134256571T	ACAD8	NM_014384.2(ACAD8):c.133C>T:p.Gln45Ter	coding	Pathogenic
11	134256654	C	T	C134256654T	ACAD8	NM_014384.2(ACAD8):c.210+6C>T	noncoding	Benign
11	134257084	A	G	A134257084G	ACAD8	NM_014384.2(ACAD8):c.211-4A>G	noncoding	Benign
11	134257225	C	A	C134257225A	ACAD8	NM_014384.3(ACAD8):c.348C>A:p.Cys116Ter	coding	Pathogenic
11	134258589	T	C	T134258589C	ACAD8	NM_014384.2(ACAD8):c.455T>C:p.Met152Thr	coding	Pathogenic
11	134259085	G	A	G134259085A	ACAD8	NM_014384.2(ACAD8):c.567+1G>A	coding	Pathogenic
11	134261023	G	A	G134261023A	ACAD8	NM_014384.2(ACAD8):c.706-21G>A	noncoding	Benign
11	134261139	C	T	C134261139T	ACAD8	NM_014384.3(ACAD8):c.801C>T:p.Leu267=	coding	Benign
11	134261186	T	C	T134261186C	ACAD8	NM_014384.2(ACAD8):c.841+7T>C	noncoding	Benign
11	134261267	C	G	C134261267G	ACAD8	NM_014384.2(ACAD8):c.842-8C>G	noncoding	Benign/Likely_benign
11	134261300	C	A	C134261300A	ACAD8	NM_014384.2(ACAD8):c.867C>A:p.His289Gln	coding	Pathogenic
11	134262498	T	C	T134262498C	ACAD8	NM_014384.2(ACAD8):c.1093-22T>C	noncoding	Benign
11	134262556	G	A	G134262556A	ACAD8	NM_014384.2(ACAD8):c.1129G>A:p.Gly377Ser	coding	Pathogenic/Likely_pathogenic
11	134262634	C	T	C134262634T	ACAD8	NM_014384.2(ACAD8):c.1195+12C>T	noncoding	Benign
11	134265128	G	A	G134265128A	ACAD8	NM_014384.2(ACAD8):c.*168G>A	noncoding	Benign
11	134265150	C	T	C134265150T	ACAD8	NM_014384.3(ACAD8):c.*190C>T	noncoding	Benign
11	134265155	G	C	G134265155C	ACAD8	NM_014384.3(ACAD8):c.*195G>C	noncoding	Benign
11	134265162	A	C	A134265162C	ACAD8	NM_014384.3(ACAD8):c.*202A>C	noncoding	Benign
11	134265237	C	T	C134265237T	ACAD8	NM_014384.2(ACAD8):c.*277C>T	noncoding	Benign
11	134265337	C	T	C134265337T	ACAD8	NM_014384.2(ACAD8):c.*377C>T	noncoding	Benign
11	134265643	A	G	A134265643G	ACAD8	NM_014384.3(ACAD8):c.*683A>G	noncoding	Benign
11	134332098	A	G	A134332098G	GLB1L2	NM_001370461.1(GLB1L2):c.37A>G:p.Thr13Ala	coding	Benign
11	134382947	G	A	G134382947A	B3GAT1	NM_054025.3(B3GAT1):c.681C>T:p.Tyr227=	coding	Benign
12	66923	A	G	A66923G	IQSEC3	NM_001170738.2(IQSEC3):c.41A>G:p.Tyr14Cys	coding	Benign
12	138470	G	A	G138470A	IQSEC3	NM_001170738.2(IQSEC3):c.1107G>A:p.Ala369=	coding	Benign
12	138744	C	T	C138744T	IQSEC3	NM_001170738.2(IQSEC3):c.1381C>T:p.Pro461Ser	coding	Benign
12	192583	C	T	C192583T	SLC6A12	NM_003044.5(SLC6A12):c.1596G>A:p.Pro532=	coding	Benign
12	196115	G	C	G196115C	SLC6A12	NM_003044.5(SLC6A12):c.1326+9C>G	noncoding	Benign
12	198001	C	T	C198001T	SLC6A12	NM_003044.5(SLC6A12):c.849G>A:p.Val283=	coding	Benign
12	198911	C	A	C198911A	SLC6A12	NM_003044.5(SLC6A12):c.732G>T:p.Thr244=	coding	Benign
12	204619	T	C	T204619C	SLC6A12	NM_003044.5(SLC6A12):c.294A>G:p.Gln98=	coding	Benign
12	221369	G	A	G221369A	SLC6A13	NM_016615.5(SLC6A13):c.1686+7C>T	noncoding	Benign
12	223172	G	A	G223172A	SLC6A13	NM_016615.5(SLC6A13):c.1374C>T:p.Phe458=	coding	Benign
12	224059	C	T	C224059T	SLC6A13	NM_016615.5(SLC6A13):c.1244G>A:p.Arg415Gln	coding	Benign
12	224079	G	A	G224079A	SLC6A13	NM_016615.5(SLC6A13):c.1224C>T:p.His408=	coding	Benign
12	224082	A	G	A224082G	SLC6A13	NM_016615.5(SLC6A13):c.1221T>C:p.Pro407=	coding	Benign
12	226412	G	C	G226412C	SLC6A13	NM_016615.5(SLC6A13):c.1038C>G:p.Pro346=	coding	Benign
12	292952	T	A	T292952A	KDM5A	NM_001042603.3(KDM5A):c.4673A>T:p.Glu1558Val	coding	Benign
12	295608	G	T	G295608T	KDM5A	NM_001042603.3(KDM5A):c.4420C>A:p.Pro1474Thr	coding	Benign
12	295692	C	G	C295692G	KDM5A	NM_001042603.3(KDM5A):c.4336G>C:p.Glu1446Gln	coding	Benign
12	307014	T	C	T307014C	KDM5A	NM_001042603.3(KDM5A):c.4006A>G:p.Met1336Val	coding	Benign
12	307844	G	A	G307844A	KDM5A	NM_001042603.3(KDM5A):c.3540C>T:p.Cys1180=	coding	Benign
12	309870	T	C	T309870C	KDM5A	NM_001042603.3(KDM5A):c.3311A>G:p.Asp1104Gly	coding	Benign
12	313191	C	G	C313191G	KDM5A	NM_001042603.3(KDM5A):c.2901G>C:p.Pro967=	coding	Benign
12	323593	T	C	T323593C	KDM5A	NM_001042603.3(KDM5A):c.2150+7A>G	noncoding	Benign
12	328906	C	T	C328906T	KDM5A	NM_001042603.3(KDM5A):c.1897G>A:p.Ala633Thr	coding	Benign
12	334369	A	T	A334369T	KDM5A	NM_001042603.3(KDM5A):c.1362T>A:p.Ser454=	coding	Benign
12	352208	G	C	G352208C	KDM5A	NM_001042603.3(KDM5A):c.1146C>G:p.Val382=	coding	Benign
12	354082	G	C	G354082C	KDM5A	NM_001042603.3(KDM5A):c.1023C>G:p.Val341=	coding	Benign
12	460460	G	A	G460460A	B4GALNT3	NM_173593.4(B4GALNT3):c.84G>A:p.Ala28=	coding	Benign
12	553246	G	C	G553246C	B4GALNT3	NM_173593.4(B4GALNT3):c.1323G>C:p.Glu441Asp	coding	Benign
12	553529	C	T	C553529T	B4GALNT3	NM_173593.4(B4GALNT3):c.1606C>T:p.His536Tyr	coding	Benign
12	553981	G	C	G553981C	B4GALNT3	NM_173593.4(B4GALNT3):c.2058G>C:p.Arg686=	coding	Benign
12	556741	G	T	G556741T	B4GALNT3	NM_173593.4(B4GALNT3):c.2255G>T:p.Gly752Val	coding	Benign
12	752968	C	G	C752968G	WNK1	NM_018979.4(WNK1):c.-598C>G	noncoding	Benign
12	753114	G	A	G753114A	WNK1	NM_018979.4(WNK1):c.-452G>A	noncoding	Benign
12	753238	C	G	C753238G	WNK1	NM_018979.4(WNK1):c.-328C>G	noncoding	Benign
12	753353	G	T	G753353T	WNK1	NM_018979.4(WNK1):c.-213G>T	noncoding	Benign
12	753363	C	G	C753363G	WNK1	NM_018979.4(WNK1):c.-203C>G	noncoding	Benign
12	753407	C	T	C753407T	WNK1	NM_018979.4(WNK1):c.-159C>T	noncoding	Benign
12	753444	C	T	C753444T	WNK1	NM_018979.4(WNK1):c.-122C>T	noncoding	Benign
12	753475	T	G	T753475G	WNK1	NM_018979.4(WNK1):c.-91T>G	noncoding	Benign
12	753495	G	A	G753495A	WNK1	NM_018979.4(WNK1):c.-71G>A	noncoding	Benign
12	753532	C	T	C753532T	WNK1	NM_018979.4(WNK1):c.-34C>T	noncoding	Benign
12	753541	C	G	C753541G	WNK1	NM_018979.4(WNK1):c.-25C>G	noncoding	Benign
12	753543	C	T	C753543T	WNK1	NM_018979.4(WNK1):c.-23C>T	noncoding	Benign
12	753823	T	C	T753823C	WNK1	NM_018979.4(WNK1):c.258T>C:p.Cys86=	coding	Benign
12	753986	G	A	G753986A	WNK1	NM_018979.4(WNK1):c.421G>A:p.Ala141Thr	coding	Benign
12	754011	C	T	C754011T	WNK1	NM_018979.4(WNK1):c.446C>T:p.Ala149Val	coding	Benign/Likely_benign
12	754249	C	T	C754249T	WNK1	NM_018979.4(WNK1):c.684C>T:p.Gly228=	coding	Benign
12	754339	A	C	A754339C	WNK1	NM_018979.4(WNK1):c.759+15A>C	noncoding	Benign
12	754351	G	A	G754351A	WNK1	NM_018979.4(WNK1):c.759+27G>A	noncoding	Benign
12	813797	G	A	G813797A	WNK1	NM_018979.4(WNK1):c.915G>A:p.Thr305=	coding	Benign/Likely_benign
12	827302	C	G	C827302G	WNK1	NM_018979.4(WNK1):c.1153+40C>G	noncoding	Benign
12	829744	T	A	T829744A	WNK1	NM_018979.4(WNK1):c.1154-259T>A	noncoding	Benign
12	830136	A	G	A830136G	WNK1	NM_018979.4(WNK1):c.1287A>G:p.Ala429=	coding	Benign
12	830314	G	T	G830314T	WNK1	NM_018979.4(WNK1):c.1311+154G>T	noncoding	Benign
12	856931	A	G	A856931G	WNK1	NM_018979.4(WNK1):c.1312-230A>G	noncoding	Benign
12	856958	T	C	T856958C	WNK1	NM_018979.4(WNK1):c.1312-203T>C	noncoding	Benign
12	857042	G	A	G857042A	WNK1	NM_018979.4(WNK1):c.1312-119G>A	noncoding	Benign
12	859234	C	A	C859234A	WNK1	NM_018979.4(WNK1):c.1401-11C>A	noncoding	Benign
12	859323	T	C	T859323C	WNK1	NM_018979.4(WNK1):c.1479T>C:p.Asp493=	coding	Benign
12	859356	A	G	A859356G	WNK1	NM_018979.4(WNK1):c.1512A>G:p.Leu504=	coding	Benign
12	859370	T	C	T859370C	WNK1	NM_018979.4(WNK1):c.1526T>C:p.Ile509Thr	coding	Benign
12	861226	G	A	G861226A	WNK1	NM_018979.4(WNK1):c.1834G>A:p.Gly612Ser	coding	Benign/Likely_benign
12	861552	A	T	A861552T	WNK1	NM_018979.4(WNK1):c.1951+209A>T	noncoding	Benign
12	862125	C	T	C862125T	WNK1	NM_018979.4(WNK1):c.1994C>T:p.Thr665Ile	coding	Benign
12	862151	A	G	A862151G	WNK1	NM_018979.4(WNK1):c.2020A>G:p.Thr674Ala	coding	Benign
12	862183	A	G	A862183G	WNK1	NM_018979.4(WNK1):c.2052A>G:p.Ala684=	coding	Benign
12	862212	T	C	T862212C	WNK1	NM_018979.4(WNK1):c.2081T>C:p.Ile694Thr	coding	Benign
12	862441	G	A	G862441A	WNK1	NM_018979.4(WNK1):c.2139+171G>A	noncoding	Benign
12	865125	A	G	A865125G	WNK1	NM_018979.4(WNK1):c.2139+2855A>G	coding	Benign
12	865142	T	C	T865142C	WNK1	NM_018979.4(WNK1):c.2139+2872T>C	coding	Benign/Likely_benign
12	865160	G	C	G865160C	WNK1	NM_018979.4(WNK1):c.2139+2890G>C	coding	Benign
12	865284	T	C	T865284C	WNK1	NM_018979.4(WNK1):c.2139+3014T>C	coding	Benign
12	868046	C	T	C868046T	WNK1	NM_018979.4(WNK1):c.2140-3219C>T	coding	Pathogenic
12	868107	G	A	G868107A	WNK1	NM_018979.4(WNK1):c.2140-3158G>A	coding	Pathogenic
12	868130	T	C	T868130C	WNK1	NM_018979.4(WNK1):c.2140-3135T>C	coding	Benign/Likely_benign
12	868193	G	T	G868193T	WNK1	NM_018979.4(WNK1):c.2140-3072G>T	coding	Pathogenic
12	868341	C	G	C868341G	WNK1	NM_018979.4(WNK1):c.2140-2924C>G	coding	Pathogenic
12	868379	C	T	C868379T	WNK1	NM_018979.4(WNK1):c.2140-2886C>T	coding	Pathogenic
12	868391	C	T	C868391T	WNK1	NM_018979.4(WNK1):c.2140-2874C>T	coding	Pathogenic
12	868473	T	G	T868473G	WNK1	NM_018979.4(WNK1):c.2140-2792T>G	coding	Pathogenic
12	868547	A	T	A868547T	WNK1	NM_018979.4(WNK1):c.2140-2718A>T	coding	Pathogenic
12	868697	C	T	C868697T	WNK1	NM_018979.4(WNK1):c.2140-2568C>T	coding	Pathogenic
12	868772	C	T	C868772T	WNK1	NM_018979.4(WNK1):c.2140-2493C>T	coding	Pathogenic
12	868801	C	A	C868801A	WNK1	NM_018979.4(WNK1):c.2140-2464C>A	coding	Pathogenic
12	868873	T	G	T868873G	WNK1	NM_018979.4(WNK1):c.2140-2392T>G	coding	Pathogenic
12	878254	C	G	C878254G	WNK1	NM_018979.4(WNK1):c.2266C>G:p.Gln756Glu	coding	Benign/Likely_benign
12	878316	G	A	G878316A	WNK1	NM_018979.4(WNK1):c.2328G>A:p.Gln776=	coding	Benign
12	878324	C	T	C878324T	WNK1	NM_018979.4(WNK1):c.2336C>T:p.Ala779Val	coding	Benign/Likely_benign
12	879392	C	T	C879392T	WNK1	NM_018979.4(WNK1):c.2374-181C>T	noncoding	Benign
12	879689	G	A	G879689A	WNK1	NM_018979.4(WNK1):c.2490G>A:p.Pro830=	coding	Benign/Likely_benign
12	879728	G	A	G879728A	WNK1	NM_018979.4(WNK1):c.2529G>A:p.Gln843=	coding	Benign
12	879857	G	C	G879857C	WNK1	NM_018979.4(WNK1):c.2658G>C:p.Pro886=	coding	Benign
12	879863	A	G	A879863G	WNK1	NM_018979.4(WNK1):c.2664A>G:p.Val888=	coding	Benign/Likely_benign
12	880783	C	T	C880783T	WNK1	NM_018979.4(WNK1):c.2895C>T:p.Asn965=	coding	Benign/Likely_benign
12	880904	C	T	C880904T	WNK1	NM_018979.4(WNK1):c.3016C>T:p.Pro1006Ser	coding	Benign/Likely_benign
12	880907	A	G	A880907G	WNK1	NM_018979.4(WNK1):c.3019A>G:p.Met1007Val	coding	Benign/Likely_benign
12	881235	C	A	C881235A	WNK1	NM_018979.4(WNK1):c.3111+236C>A	noncoding	Benign
12	881682	C	T	C881682T	WNK1	NM_018979.4(WNK1):c.3112-10C>T	noncoding	Benign/Likely_benign
12	881746	A	C	A881746C	WNK1	NM_018979.4(WNK1):c.3166A>C:p.Thr1056Pro	coding	Benign
12	881768	C	T	C881768T	WNK1	NM_018979.4(WNK1):c.3188C>T:p.Thr1063Ile	coding	Benign/Likely_benign
12	882032	C	T	C882032T	WNK1	NM_018979.4(WNK1):c.3331C>T:p.Arg1111Ter	coding	Pathogenic
12	882140	G	A	G882140A	WNK1	NM_018979.4(WNK1):c.3372+67G>A	noncoding	Benign
12	883063	C	T	C883063T	WNK1	NM_018979.4(WNK1):c.3489+4C>T	noncoding	Benign
12	883390	T	A	T883390A	WNK1	NM_018979.4(WNK1):c.3490-5T>A	noncoding	Benign
12	883421	A	G	A883421G	WNK1	NM_018979.4(WNK1):c.3516A>G:p.Ile1172Met	coding	Benign/Likely_benign
12	883487	G	A	G883487A	WNK1	NM_018979.4(WNK1):c.3582G>A:p.Glu1194=	coding	Benign
12	883559	A	G	A883559G	WNK1	NM_018979.4(WNK1):c.3654A>G:p.Ser1218=	coding	Benign
12	883759	T	A	T883759A	WNK1	NM_018979.4(WNK1):c.3664-15T>A	noncoding	Benign
12	883808	C	T	C883808T	WNK1	NM_018979.4(WNK1):c.3698C>T:p.Ala1233Val	coding	Benign
12	883809	G	A	G883809A	WNK1	NM_018979.4(WNK1):c.3699G>A:p.Ala1233=	coding	Benign/Likely_benign
12	884486	T	G	T884486G	WNK1	NM_018979.4(WNK1):c.3845-163T>G	noncoding	Benign
12	884764	C	T	C884764T	WNK1	NM_018979.4(WNK1):c.3960C>T:p.Asn1320=	coding	Benign
12	884848	C	T	C884848T	WNK1	NM_018979.4(WNK1):c.4044C>T:p.Thr1348=	coding	Benign
12	885074	A	G	A885074G	WNK1	NM_018979.4(WNK1):c.4270A>G:p.Ile1424Val	coding	Benign
12	885124	C	T	C885124T	WNK1	NM_018979.4(WNK1):c.4320C>T:p.Ile1440=	coding	Benign/Likely_benign
12	885321	G	C	G885321C	WNK1	NM_018979.4(WNK1):c.4517G>C:p.Cys1506Ser	coding	Benign
12	885368	G	A	G885368A	WNK1	NM_018979.4(WNK1):c.4564G>A:p.Val1522Met	coding	Benign/Likely_benign
12	886212	A	G	A886212G	WNK1	NM_018979.4(WNK1):c.5280+128A>G	noncoding	Benign
12	887039	A	T	A887039T	WNK1	NM_018979.4(WNK1):c.5281-182A>T	noncoding	Benign
12	887224	C	T	C887224T	WNK1	NM_018979.4(WNK1):c.5284C>T:p.Leu1762=	coding	Benign
12	887505	G	A	G887505A	WNK1	NM_018979.4(WNK1):c.5364+201G>A	noncoding	Benign
12	889172	A	G	A889172G	WNK1	NM_018979.4(WNK1):c.5397A>G:p.Gln1799=	coding	Benign
12	889199	G	T	G889199T	WNK1	NM_018979.4(WNK1):c.5424G>T:p.Met1808Ile	coding	Benign
12	890472	C	T	C890472T	WNK1	NM_018979.4(WNK1):c.5468C>T:p.Pro1823Leu	coding	Benign
12	890485	A	G	A890485G	WNK1	NM_018979.4(WNK1):c.5481A>G:p.Thr1827=	coding	Benign
12	890497	A	T	A890497T	WNK1	NM_018979.4(WNK1):c.5493A>T:p.Thr1831=	coding	Benign
12	890500	G	A	G890500A	WNK1	NM_018979.4(WNK1):c.5496G>A:p.Gln1832=	coding	Benign
12	890596	A	G	A890596G	WNK1	NM_018979.4(WNK1):c.5509+83A>G	noncoding	Benign
12	894273	C	T	C894273T	WNK1	NM_018979.4(WNK1):c.5510-289C>T	noncoding	Benign
12	894565	C	T	C894565T	WNK1	NM_018979.4(WNK1):c.5513C>T:p.Ser1838Phe	coding	Benign
12	894626	A	T	A894626T	WNK1	NM_018979.4(WNK1):c.5574A>T:p.Gly1858=	coding	Benign
12	894638	A	G	A894638G	WNK1	NM_018979.4(WNK1):c.5583+3A>G	noncoding	Benign
12	894671	C	T	C894671T	WNK1	NM_018979.4(WNK1):c.5583+36C>T	noncoding	Benign
12	894812	T	C	T894812C	WNK1	NM_018979.4(WNK1):c.5583+177T>C	noncoding	Benign
12	894822	T	G	T894822G	WNK1	NM_018979.4(WNK1):c.5583+187T>G	noncoding	Benign
12	895929	A	G	A895929G	WNK1	NM_018979.4(WNK1):c.5584-142A>G	noncoding	Benign
12	896088	C	T	C896088T	WNK1	NM_018979.4(WNK1):c.5601C>T:p.Asp1867=	coding	Benign
12	896320	C	T	C896320T	WNK1	NM_018979.4(WNK1):c.5833C>T:p.Arg1945Cys	coding	Benign
12	896356	C	T	C896356T	WNK1	NM_018979.4(WNK1):c.5869C>T:p.Arg1957Cys	coding	Benign/Likely_benign
12	896455	C	T	C896455T	WNK1	NM_018979.4(WNK1):c.5968C>T:p.Pro1990Ser	coding	Benign/Likely_benign
12	896478	G	A	G896478A	WNK1	NM_018979.4(WNK1):c.5991G>A:p.Glu1997=	coding	Benign
12	896519	C	A	C896519A	WNK1	NM_018979.4(WNK1):c.6032C>A:p.Ser2011Tyr	coding	Benign/Likely_benign
12	900206	G	A	G900206A	WNK1	NM_018979.4(WNK1):c.6449-270G>A	noncoding	Benign
12	900524	C	T	C900524T	WNK1	NM_018979.4(WNK1):c.6497C>T:p.Thr2166Ile	coding	Benign
12	900630	T	C	T900630C	WNK1	NM_018979.4(WNK1):c.6603T>C:p.Asp2201=	coding	Benign/Likely_benign
12	900651	C	A	C900651A	WNK1	NM_018979.4(WNK1):c.6624C>A:p.Ser2208Arg	coding	Benign/Likely_benign
12	908031	C	T	C908031T	WNK1	NM_018979.4(WNK1):c.6828C>T:p.Tyr2276=	coding	Benign
12	908534	G	A	G908534A	WNK1	NM_018979.4(WNK1):c.6891G>A:p.Ser2297=	coding	Benign
12	908839	C	G	C908839G	WNK1	NM_018979.4(WNK1):c.*47C>G	noncoding	Benign
12	909069	A	T	A909069T	WNK1	NM_018979.4(WNK1):c.*277A>T	noncoding	Benign
12	909201	C	T	C909201T	WNK1	NM_018979.4(WNK1):c.*409C>T	noncoding	Benign
12	909323	C	T	C909323T	WNK1	NM_018979.4(WNK1):c.*531C>T	noncoding	Benign
12	909550	C	G	C909550G	WNK1	NM_018979.4(WNK1):c.*758C>G	noncoding	Benign
12	909826	T	C	T909826C	WNK1	NM_018979.4(WNK1):c.*1034T>C	noncoding	Benign
12	909937	C	T	C909937T	WNK1	NM_018979.4(WNK1):c.*1145C>T	noncoding	Benign
12	909938	G	A	G909938A	WNK1	NM_018979.4(WNK1):c.*1146G>A	noncoding	Benign
12	910134	G	T	G910134T	WNK1	NM_018979.4(WNK1):c.*1342G>T	noncoding	Benign
12	910309	T	C	T910309C	WNK1	NM_018979.4(WNK1):c.*1517T>C	noncoding	Benign
12	910556	G	T	G910556T	WNK1	NM_018979.4(WNK1):c.*1764G>T	noncoding	Benign
12	910729	C	G	C910729G	WNK1	NM_018979.4(WNK1):c.*1937C>G	noncoding	Benign
12	910778	G	A	G910778A	WNK1	NM_018979.4(WNK1):c.*1986G>A	noncoding	Benign
12	910799	C	T	C910799T	WNK1	NM_018979.4(WNK1):c.*2007C>T	noncoding	Benign
12	911028	T	C	T911028C	WNK1	NM_018979.4(WNK1):c.*2236T>C	noncoding	Benign
12	911100	T	C	T911100C	WNK1	NM_018979.4(WNK1):c.*2308T>C	noncoding	Benign
12	911205	G	T	G911205T	WNK1	NM_018979.4(WNK1):c.*2413G>T	noncoding	Benign
12	911266	A	G	A911266G	WNK1	NM_018979.4(WNK1):c.*2474A>G	noncoding	Benign
12	911375	C	T	C911375T	WNK1	NM_018979.4(WNK1):c.*2583C>T	noncoding	Benign
12	916703	G	C	G916703C	RAD52	NM_134424.4(RAD52):c.661C>G:p.Gln221Glu	coding	Benign
12	1110209	T	A	T1110209A	ERC1	NM_178040.4(ERC1):c.1179T>A:p.Ser393=	coding	Benign
12	1593304	G	A	G1593304A	FBXL14	NM_152441.3(FBXL14):c.763C>T:p.Leu255=	coding	Benign
12	1786042	C	T	C1786042T	ADIPOR2	NM_024551.3(ADIPOR2):c.1131C>T:p.Gly377=	coding	Benign
12	1792031	C	G	C1792031G	CACNA2D4	NM_172364.5(CACNA2D4):c.*1624G>C	noncoding	Benign
12	1792059	C	T	C1792059T	CACNA2D4	NM_172364.5(CACNA2D4):c.*1596G>A	noncoding	Benign
12	1792098	T	G	T1792098G	CACNA2D4	NM_172364.5(CACNA2D4):c.*1557A>C	noncoding	Benign
12	1792099	A	G	A1792099G	CACNA2D4	NM_172364.5(CACNA2D4):c.*1556T>C	noncoding	Benign
12	1792268	C	T	C1792268T	CACNA2D4	NM_172364.5(CACNA2D4):c.*1387G>A	noncoding	Benign
12	1792295	C	T	C1792295T	CACNA2D4	NM_172364.5(CACNA2D4):c.*1360G>A	noncoding	Benign
12	1792319	G	T	G1792319T	CACNA2D4	NM_172364.5(CACNA2D4):c.*1336C>A	noncoding	Benign
12	1792380	A	C	A1792380C	CACNA2D4	NM_172364.5(CACNA2D4):c.*1275T>G	noncoding	Benign
12	1792438	G	C	G1792438C	CACNA2D4	NM_172364.5(CACNA2D4):c.*1217C>G	noncoding	Benign
12	1792859	C	T	C1792859T	CACNA2D4	NM_172364.5(CACNA2D4):c.*796G>A	noncoding	Benign
12	1792998	C	T	C1792998T	CACNA2D4	NM_172364.5(CACNA2D4):c.*657G>A	noncoding	Benign
12	1793600	T	G	T1793600G	CACNA2D4	NM_172364.5(CACNA2D4):c.*55A>C	noncoding	Benign
12	1793739	G	A	G1793739A	CACNA2D4	NM_172364.5(CACNA2D4):c.3330C>T:p.Gly1110=	coding	Benign
12	1793763	C	T	C1793763T	CACNA2D4	NM_172364.5(CACNA2D4):c.3310-4G>A	noncoding	Benign
12	1793767	C	T	C1793767T	CACNA2D4	NM_172364.5(CACNA2D4):c.3310-8G>A	noncoding	Benign/Likely_benign
12	1797466	G	A	G1797466A	CACNA2D4	NM_172364.5(CACNA2D4):c.3065C>T:p.Pro1022Leu	coding	Benign
12	1799683	A	G	A1799683G	CACNA2D4	NM_172364.5(CACNA2D4):c.2987T>C:p.Phe996Ser	coding	Benign
12	1800379	C	G	C1800379G	CACNA2D4	NM_172364.5(CACNA2D4):c.2921+7G>C	noncoding	Benign/Likely_benign
12	1801133	C	T	C1801133T	CACNA2D4	NM_172364.5(CACNA2D4):c.2793-15G>A	noncoding	Benign
12	1801620	C	T	C1801620T	CACNA2D4	NM_172364.5(CACNA2D4):c.2746G>A:p.Asp916Asn	coding	Benign
12	1811669	G	A	G1811669A	CACNA2D4	NM_172364.5(CACNA2D4):c.2606C>T:p.Thr869Met	coding	Benign
12	1811687	C	T	C1811687T	CACNA2D4	NM_172364.5(CACNA2D4):c.2588G>A:p.Arg863His	coding	Benign
12	1840773	C	T	C1840773T	CACNA2D4	NM_172364.5(CACNA2D4):c.2517G>A:p.Ala839=	coding	Benign
12	1846620	G	A	G1846620A	CACNA2D4	NM_172364.5(CACNA2D4):c.2316C>T:p.Phe772=	coding	Benign
12	1854008	G	A	G1854008A	CACNA2D4	NM_172364.5(CACNA2D4):c.2189C>T:p.Ala730Val	coding	Benign
12	1854010	G	A	G1854010A	CACNA2D4	NM_172364.5(CACNA2D4):c.2187C>T:p.Asp729=	coding	Benign
12	1855999	G	A	G1855999A	CACNA2D4	NM_172364.5(CACNA2D4):c.2152+13C>T	noncoding	Benign
12	1856077	T	C	T1856077C	CACNA2D4	NM_172364.5(CACNA2D4):c.2087A>G:p.His696Arg	coding	Benign
12	1856099	T	C	T1856099C	CACNA2D4	NM_172364.5(CACNA2D4):c.2065A>G:p.Ile689Val	coding	Benign
12	1856192	G	C	G1856192C	CACNA2D4	NM_172364.5(CACNA2D4):c.2046C>G:p.Ala682=	coding	Benign
12	1856203	G	A	G1856203A	CACNA2D4	NM_172364.5(CACNA2D4):c.2035C>T:p.Leu679=	coding	Benign
12	1860130	G	A	G1860130A	CACNA2D4	NM_172364.5(CACNA2D4):c.1940+15C>T	noncoding	Benign
12	1874616	C	T	C1874616T	CACNA2D4	NM_172364.5(CACNA2D4):c.1866G>A:p.Pro622=	coding	Benign
12	1879001	T	C	T1879001C	CACNA2D4	NM_172364.5(CACNA2D4):c.1599A>G:p.Ser533=	coding	Benign
12	1879852	T	C	T1879852C	CACNA2D4	NM_172364.5(CACNA2D4):c.1515A>G:p.Thr505=	coding	Benign
12	1879859	C	T	C1879859T	CACNA2D4	NM_172364.5(CACNA2D4):c.1508G>A:p.Ser503Asn	coding	Benign
12	1882993	G	A	G1882993A	CACNA2D4	NM_172364.5(CACNA2D4):c.1359C>T:p.Tyr453=	coding	Benign
12	1885952	C	T	C1885952T	CACNA2D4	NM_172364.5(CACNA2D4):c.1068+13G>A	noncoding	Benign
12	1885953	G	A	G1885953A	CACNA2D4	NM_172364.5(CACNA2D4):c.1068+12C>T	noncoding	Benign
12	1886237	T	C	T1886237C	CACNA2D4	NM_172364.5(CACNA2D4):c.979A>G:p.Ile327Val	coding	Benign
12	1886304	C	T	C1886304T	CACNA2D4	NM_172364.5(CACNA2D4):c.912G>A:p.Gly304=	coding	Benign
12	1886328	C	T	C1886328T	CACNA2D4	NM_172364.5(CACNA2D4):c.888G>A:p.Val296=	coding	Benign/Likely_benign
12	1887014	G	A	G1887014A	CACNA2D4	NM_172364.5(CACNA2D4):c.837C>T:p.Arg279=	coding	Benign
12	1908041	G	A	G1908041A	CACNA2D4	NM_172364.5(CACNA2D4):c.487-4C>T	noncoding	Benign
12	1913030	G	C	G1913030C	CACNA2D4	NM_172364.5(CACNA2D4):c.419C>G:p.Ala140Gly	coding	Benign
12	1914926	T	C	T1914926C	CACNA2D4	NM_172364.5(CACNA2D4):c.237A>G:p.Leu79=	coding	Benign
12	1918236	G	A	G1918236A	CACNA2D4	NM_172364.5(CACNA2D4):c.227+11C>T	noncoding	Benign
12	1918335	C	T	C1918335T	CACNA2D4	NM_172364.5(CACNA2D4):c.139G>A:p.Val47Met	coding	Benign
12	1918398	C	T	C1918398T	CACNA2D4	NM_172364.5(CACNA2D4):c.76G>A:p.Ala26Thr	coding	Benign
12	1918545	G	A	G1918545A	CACNA2D4	NM_172364.5(CACNA2D4):c.-72C>T	noncoding	Benign
12	1918564	C	T	C1918564T	CACNA2D4	NM_172364.5(CACNA2D4):c.-91G>A	noncoding	Benign
12	1949158	C	T	C1949158T	DCP1B	NM_152640.5(DCP1B):c.1701G>A:p.Pro567=	coding	Benign
12	1952789	C	T	C1952789T	DCP1B	NM_152640.5(DCP1B):c.1151G>A:p.Arg384His	coding	Benign
12	1953038	C	G	C1953038G	DCP1B	NM_152640.5(DCP1B):c.902G>C:p.Ser301Thr	coding	Benign
12	2053203	G	A	G2053203A	CACNA1C	NM_000719.7(CACNA1C):c.-360G>A	noncoding	Benign
12	2053866	G	A	G2053866A	CACNA1C	NM_000719.7(CACNA1C):c.49+255G>A	noncoding	Benign
12	2114897	C	G	C2114897G	CACNA1C	NM_000719.7(CACNA1C):c.50-327C>G	noncoding	Benign
12	2115062	C	G	C2115062G	CACNA1C	NM_000719.7(CACNA1C):c.50-162C>G	noncoding	Benign
12	2115077	C	T	C2115077T	CACNA1C	NM_000719.7(CACNA1C):c.50-147C>T	noncoding	Benign
12	2115206	T	C	T2115206C	CACNA1C	NM_000719.7(CACNA1C):c.50-18T>C	noncoding	Benign
12	2115283	G	A	G2115283A	CACNA1C	NM_000719.7(CACNA1C):c.109G>A:p.Gly37Arg	coding	Benign/Likely_benign
12	2115290	C	T	C2115290T	CACNA1C	NM_000719.7(CACNA1C):c.116C>T:p.Ala39Val	coding	Pathogenic
12	2115345	C	T	C2115345T	CACNA1C	NM_000719.7(CACNA1C):c.171C>T:p.Asp57=	coding	Benign
12	2115387	G	A	G2115387A	CACNA1C	NM_000719.7(CACNA1C):c.213G>A:p.Ala71=	coding	Benign
12	2115514	C	A	C2115514A	CACNA1C	NM_000719.7(CACNA1C):c.340C>A:p.Arg114=	coding	Benign
12	2115561	C	T	C2115561T	CACNA1C	NM_000719.7(CACNA1C):c.371+16C>T	noncoding	Benign
12	2115562	G	A	G2115562A	CACNA1C	NM_000719.7(CACNA1C):c.371+17G>A	noncoding	Benign
12	2115775	A	C	A2115775C	CACNA1C	NM_000719.7(CACNA1C):c.371+230A>C	noncoding	Benign
12	2120020	T	C	T2120020C	CACNA1C	NM_000719.7(CACNA1C):c.372-305T>C	noncoding	Benign
12	2120302	A	G	A2120302G	CACNA1C	NM_000719.7(CACNA1C):c.372-23A>G	noncoding	Benign
12	2120310	G	A	G2120310A	CACNA1C	NM_000719.7(CACNA1C):c.372-15G>A	noncoding	Benign
12	2120328	A	G	A2120328G	CACNA1C	NM_000719.7(CACNA1C):c.375A>G:p.Pro125=	coding	Benign/Likely_benign
12	2120379	G	A	G2120379A	CACNA1C	NM_000719.7(CACNA1C):c.426G>A:p.Ala142=	coding	Benign/Likely_benign
12	2237020	T	C	T2237020C	CACNA1C	NM_000719.7(CACNA1C):c.477+116590T>C	noncoding	Benign
12	2237088	G	A	G2237088A	CACNA1C	NM_000719.7(CACNA1C):c.477+116658G>A	noncoding	Benign
12	2448839	C	T	C2448839T	CACNA1C	NM_000719.7(CACNA1C):c.478-137C>T	noncoding	Benign
12	2448957	T	G	T2448957G	CACNA1C	NM_000719.7(CACNA1C):c.478-19T>G	noncoding	Benign
12	2449020	G	A	G2449020A	CACNA1C	NM_000719.7(CACNA1C):c.522G>A:p.Ala174=	coding	Benign
12	2449077	C	T	C2449077T	CACNA1C	NM_000719.7(CACNA1C):c.579C>T:p.Asn193=	coding	Benign/Likely_benign
12	2449132	G	A	G2449132A	CACNA1C	NM_000719.7(CACNA1C):c.617+17G>A	noncoding	Benign
12	2449134	T	C	T2449134C	CACNA1C	NM_000719.7(CACNA1C):c.617+19T>C	noncoding	Benign
12	2457567	G	A	G2457567A	CACNA1C	NM_000719.7(CACNA1C):c.618G>A:p.Gly206=	coding	Benign/Likely_benign
12	2458011	T	G	T2458011G	CACNA1C	NM_000719.7(CACNA1C):c.757+305T>G	noncoding	Benign
12	2485816	A	G	A2485816G	CACNA1C	NM_000719.7(CACNA1C):c.758-288A>G	noncoding	Benign
12	2485845	A	C	A2485845C	CACNA1C	NM_000719.7(CACNA1C):c.758-259A>C	noncoding	Benign
12	2486066	G	A	G2486066A	CACNA1C	NM_000719.7(CACNA1C):c.758-38G>A	noncoding	Benign/Likely_benign
12	2486117	C	T	C2486117T	CACNA1C	NM_000719.7(CACNA1C):c.771C>T:p.Val257=	coding	Benign
12	2486192	C	T	C2486192T	CACNA1C	NM_000719.7(CACNA1C):c.846C>T:p.Tyr282=	coding	Benign/Likely_benign
12	2486325	C	T	C2486325T	CACNA1C	NM_000719.7(CACNA1C):c.916+63C>T	noncoding	Benign
12	2486469	G	A	G2486469A	CACNA1C	NM_000719.7(CACNA1C):c.916+207G>A	noncoding	Benign
12	2493013	G	A	G2493013A	CACNA1C	NM_000719.7(CACNA1C):c.917-177G>A	noncoding	Benign
12	2493233	G	A	G2493233A	CACNA1C	NM_000719.7(CACNA1C):c.960G>A:p.Thr320=	coding	Benign
12	2493239	C	T	C2493239T	CACNA1C	NM_000719.7(CACNA1C):c.966C>T:p.His322=	coding	Benign/Likely_benign
12	2493257	C	T	C2493257T	CACNA1C	NM_000719.7(CACNA1C):c.984C>T:p.Asn328=	coding	Benign/Likely_benign
12	2493275	C	T	C2493275T	CACNA1C	NM_000719.7(CACNA1C):c.1002C>T:p.Pro334=	coding	Benign
12	2493338	G	A	G2493338A	CACNA1C	NM_000719.7(CACNA1C):c.1065G>A:p.Thr355=	coding	Benign/Likely_benign
12	2493347	G	A	G2493347A	CACNA1C	NM_000719.7(CACNA1C):c.1074G>A:p.Gln358=	coding	Benign/Likely_benign
12	2493393	A	G	A2493393G	CACNA1C	NM_000719.7(CACNA1C):c.1113+7A>G	noncoding	Benign
12	2493409	C	A	C2493409A	CACNA1C	NM_000719.7(CACNA1C):c.1113+23C>A	noncoding	Benign
12	2493486	C	G	C2493486G	CACNA1C	NM_000719.7(CACNA1C):c.1113+100C>G	noncoding	Benign
12	2493572	C	T	C2493572T	CACNA1C	NM_000719.7(CACNA1C):c.1113+186C>T	noncoding	Benign
12	2504163	A	G	A2504163G	CACNA1C	NM_000719.7(CACNA1C):c.1114-679A>G	noncoding	Benign
12	2504255	G	A	G2504255A	CACNA1C	NM_000719.7(CACNA1C):c.1114-587G>A	noncoding	Benign/Likely_benign
12	2504265	G	A	G2504265A	CACNA1C	NM_000719.7(CACNA1C):c.1114-577G>A	noncoding	Benign
12	2504355	A	G	A2504355G	CACNA1C	NM_000719.7(CACNA1C):c.1114-487A>G	noncoding	Benign
12	2504404	T	G	T2504404G	CACNA1C	NM_000719.7(CACNA1C):c.1114-438T>G	noncoding	Benign/Likely_benign
12	2504426	G	A	G2504426A	CACNA1C	NM_000719.7(CACNA1C):c.1114-416G>A	noncoding	Benign
12	2504526	G	A	G2504526A	CACNA1C	NM_000719.7(CACNA1C):c.1114-316G>A	coding	Pathogenic
12	2504538	G	A	G2504538A	CACNA1C	NM_000719.7(CACNA1C):c.1114-304G>A	coding	Pathogenic
12	2504538	G	C	G2504538C	CACNA1C	NM_000719.7(CACNA1C):c.1114-304G>C	coding	Pathogenic
12	2504550	C	T	C2504550T	CACNA1C	NM_000719.7(CACNA1C):c.1114-292C>T	noncoding	Benign/Likely_benign
12	2504697	A	G	A2504697G	CACNA1C	NM_000719.7(CACNA1C):c.1114-145A>G	noncoding	Benign/Likely_benign
12	2504832	G	A	G2504832A	CACNA1C	NM_000719.7(CACNA1C):c.1114-10G>A	noncoding	Benign/Likely_benign
12	2504904	G	T	G2504904T	CACNA1C	NM_000719.7(CACNA1C):c.1176G>T:p.Gly392=	coding	Benign/Likely_benign
12	2504932	G	A	G2504932A	CACNA1C	NM_000719.7(CACNA1C):c.1204G>A:p.Gly402Ser	coding	Pathogenic
12	2504944	G	A	G2504944A	CACNA1C	NM_000719.7(CACNA1C):c.1216G>A:p.Gly406Arg	coding	Pathogenic
12	2512746	G	A	G2512746A	CACNA1C	NM_000719.7(CACNA1C):c.1218-66G>A	noncoding	Benign/Likely_benign
12	2512995	G	A	G2512995A	CACNA1C	NM_000719.7(CACNA1C):c.1390+11G>A	noncoding	Benign
12	2513088	C	T	C2513088T	CACNA1C	NM_000719.7(CACNA1C):c.1390+104C>T	noncoding	Benign
12	2513172	A	G	A2513172G	CACNA1C	NM_000719.7(CACNA1C):c.1390+188A>G	noncoding	Benign
12	2513220	G	A	G2513220A	CACNA1C	NM_000719.7(CACNA1C):c.1390+236G>A	noncoding	Benign
12	2513227	T	C	T2513227C	CACNA1C	NM_000719.7(CACNA1C):c.1390+243T>C	noncoding	Benign
12	2547459	C	T	C2547459T	CACNA1C	NM_000719.7(CACNA1C):c.1391-2484C>T	noncoding	Benign
12	2547721	T	G	T2547721G	CACNA1C	NM_000719.7(CACNA1C):c.1391-2222T>G	noncoding	Benign
12	2549980	C	T	C2549980T	CACNA1C	NM_000719.7(CACNA1C):c.1428C>T:p.Thr476=	coding	Benign/Likely_benign
12	2550222	C	T	C2550222T	CACNA1C	NM_000719.7(CACNA1C):c.1481+189C>T	noncoding	Benign
12	2550224	G	A	G2550224A	CACNA1C	NM_000719.7(CACNA1C):c.1481+191G>A	noncoding	Benign
12	2550456	G	A	G2550456A	CACNA1C	NM_000719.7(CACNA1C):c.1481+423G>A	noncoding	Benign
12	2550760	C	T	C2550760T	CACNA1C	NM_000719.7(CACNA1C):c.1481+727C>T	noncoding	Benign
12	2550776	C	T	C2550776T	CACNA1C	NM_000719.7(CACNA1C):c.1481+743C>T	noncoding	Benign
12	2550810	C	A	C2550810A	CACNA1C	NM_000719.7(CACNA1C):c.1481+777C>A	noncoding	Benign
12	2550930	C	G	C2550930G	CACNA1C	NM_000719.7(CACNA1C):c.1481+897C>G	noncoding	Benign
12	2556655	C	G	C2556655G	CACNA1C	NM_000719.7(CACNA1C):c.1482-296C>G	noncoding	Benign/Likely_benign
12	2556687	C	T	C2556687T	CACNA1C	NM_000719.7(CACNA1C):c.1482-264C>T	noncoding	Benign
12	2556774	A	G	A2556774G	CACNA1C	NM_000719.7(CACNA1C):c.1482-177A>G	noncoding	Benign/Likely_benign
12	2556992	C	T	C2556992T	CACNA1C	NM_000719.7(CACNA1C):c.1508+15C>T	noncoding	Benign
12	2557182	A	G	A2557182G	CACNA1C	NM_000719.7(CACNA1C):c.1508+205A>G	noncoding	Benign
12	2557241	T	A	T2557241A	CACNA1C	NM_000719.7(CACNA1C):c.1508+264T>A	noncoding	Benign
12	2557293	G	A	G2557293A	CACNA1C	NM_000719.7(CACNA1C):c.1508+316G>A	noncoding	Benign
12	2557294	C	T	C2557294T	CACNA1C	NM_000719.7(CACNA1C):c.1508+317C>T	noncoding	Benign
12	2566465	C	T	C2566465T	CACNA1C	NM_000719.7(CACNA1C):c.1552C>T:p.Arg518Cys	coding	Pathogenic
12	2566466	G	A	G2566466A	CACNA1C	NM_000719.7(CACNA1C):c.1553G>A:p.Arg518His	coding	Pathogenic/Likely_pathogenic
12	2566470	C	A	C2566470A	CACNA1C	NM_000719.7(CACNA1C):c.1557C>A:p.Ala519=	coding	Benign/Likely_benign
12	2566592	G	A	G2566592A	CACNA1C	NM_000719.7(CACNA1C):c.1669+10G>A	noncoding	Benign
12	2566636	G	A	G2566636A	CACNA1C	NM_000719.7(CACNA1C):c.1669+54G>A	noncoding	Benign/Likely_benign
12	2567517	C	T	C2567517T	CACNA1C	NM_000719.7(CACNA1C):c.1670-52C>T	noncoding	Benign
12	2567573	G	A	G2567573A	CACNA1C	NM_000719.7(CACNA1C):c.1674G>A:p.Thr558=	coding	Benign
12	2567633	G	A	G2567633A	CACNA1C	NM_000719.7(CACNA1C):c.1734G>A:p.Leu578=	coding	Benign/Likely_benign
12	2567644	C	A	C2567644A	CACNA1C	NM_000719.7(CACNA1C):c.1745C>A:p.Ala582Asp	coding	Pathogenic
12	2567693	C	T	C2567693T	CACNA1C	NM_000719.7(CACNA1C):c.1794C>T:p.Gly598=	coding	Benign/Likely_benign
12	2567879	G	A	G2567879A	CACNA1C	NM_000719.7(CACNA1C):c.1895+85G>A	noncoding	Benign
12	2568098	A	G	A2568098G	CACNA1C	NM_000719.7(CACNA1C):c.1895+304A>G	noncoding	Benign
12	2581464	G	A	G2581464A	CACNA1C	NM_000719.7(CACNA1C):c.1896-126G>A	noncoding	Benign
12	2581536	G	A	G2581536A	CACNA1C	NM_000719.7(CACNA1C):c.1896-54G>A	noncoding	Benign
12	2582511	T	C	T2582511C	CACNA1C	NM_000719.7(CACNA1C):c.2104-311T>C	noncoding	Benign
12	2583020	T	G	T2583020G	CACNA1C	NM_000719.7(CACNA1C):c.2224+78T>G	noncoding	Benign
12	2584635	C	T	C2584635T	CACNA1C	NM_000719.7(CACNA1C):c.2339+18C>T	noncoding	Benign
12	2584637	C	A	C2584637A	CACNA1C	NM_000719.7(CACNA1C):c.2339+20C>A	noncoding	Benign
12	2584721	C	G	C2584721G	CACNA1C	NM_000719.7(CACNA1C):c.2339+104C>G	noncoding	Benign
12	2585304	G	A	G2585304A	CACNA1C	NM_000719.7(CACNA1C):c.2340-72G>A	noncoding	Benign
12	2585472	C	T	C2585472T	CACNA1C	NM_000719.7(CACNA1C):c.2436C>T:p.Asp812=	coding	Benign
12	2585485	C	T	C2585485T	CACNA1C	NM_000719.7(CACNA1C):c.2449C>T:p.Pro817Ser	coding	Benign/Likely_benign
12	2585656	T	G	T2585656G	CACNA1C	NM_000719.7(CACNA1C):c.2460+160T>G	noncoding	Benign
12	2585874	A	G	A2585874G	CACNA1C	NM_000719.7(CACNA1C):c.2500A>G:p.Lys834Glu	coding	Pathogenic
12	2585913	C	T	C2585913T	CACNA1C	NM_000719.7(CACNA1C):c.2530+9C>T	noncoding	Benign
12	2585917	C	T	C2585917T	CACNA1C	NM_000719.7(CACNA1C):c.2530+13C>T	noncoding	Benign
12	2586151	T	C	T2586151C	CACNA1C	NM_000719.7(CACNA1C):c.2530+247T>C	noncoding	Benign
12	2593026	C	T	C2593026T	CACNA1C	NM_000719.7(CACNA1C):c.2531-187C>T	noncoding	Benign
12	2593044	G	A	G2593044A	CACNA1C	NM_000719.7(CACNA1C):c.2531-169G>A	noncoding	Benign
12	2593252	C	G	C2593252G	CACNA1C	NM_000719.7(CACNA1C):c.2570C>G:p.Pro857Arg	coding	Pathogenic
12	2593255	G	A	G2593255A	CACNA1C	NM_000719.7(CACNA1C):c.2573G>A:p.Arg858His	coding	Pathogenic
12	2593260	C	G	C2593260G	CACNA1C	NM_000719.7(CACNA1C):c.2578C>G:p.Arg860Gly	coding	Pathogenic
12	2593319	G	A	G2593319A	CACNA1C	NM_000719.7(CACNA1C):c.2637G>A:p.Ala879=	coding	Benign/Likely_benign
12	2593424	C	T	C2593424T	CACNA1C	NM_000719.7(CACNA1C):c.2663+79C>T	noncoding	Benign/Likely_benign
12	2593533	C	T	C2593533T	CACNA1C	NM_000719.7(CACNA1C):c.2663+188C>T	noncoding	Benign/Likely_benign
12	2595648	C	G	C2595648G	CACNA1C	NM_000719.7(CACNA1C):c.2664-226C>G	noncoding	Benign
12	2595704	T	A	T2595704A	CACNA1C	NM_000719.7(CACNA1C):c.2664-170T>A	noncoding	Benign
12	2595922	C	T	C2595922T	CACNA1C	NM_000719.7(CACNA1C):c.2712C>T:p.Asn904=	coding	Benign
12	2596013	G	A	G2596013A	CACNA1C	NM_000719.7(CACNA1C):c.2793+10G>A	noncoding	Benign
12	2596190	A	G	A2596190G	CACNA1C	NM_000719.7(CACNA1C):c.2793+187A>G	noncoding	Benign
12	2597094	G	T	G2597094T	CACNA1C	NM_000719.7(CACNA1C):c.2794-136G>T	noncoding	Benign
12	2597554	G	C	G2597554C	CACNA1C	NM_000719.7(CACNA1C):c.2853+265G>C	noncoding	Benign
12	2597729	G	A	G2597729A	CACNA1C	NM_000719.7(CACNA1C):c.2853+440G>A	noncoding	Benign
12	2597746	C	T	C2597746T	CACNA1C	NM_000719.7(CACNA1C):c.2853+457C>T	noncoding	Benign
12	2601521	C	T	C2601521T	CACNA1C	NM_000719.7(CACNA1C):c.2854-333C>T	noncoding	Benign
12	2601850	G	A	G2601850A	CACNA1C	NM_000719.7(CACNA1C):c.2854-4G>A	noncoding	Benign/Likely_benign
12	2605553	C	T	C2605553T	CACNA1C	NM_000719.7(CACNA1C):c.3049-126C>T	noncoding	Benign
12	2605705	C	T	C2605705T	CACNA1C	NM_000719.7(CACNA1C):c.3075C>T:p.Ala1025=	coding	Benign
12	2605744	G	C	G2605744C	CACNA1C	NM_000719.7(CACNA1C):c.3114G>C:p.Leu1038=	coding	Benign
12	2605803	G	A	G2605803A	CACNA1C	NM_000719.7(CACNA1C):c.3156+17G>A	noncoding	Benign
12	2606283	G	T	G2606283T	CACNA1C	NM_000719.7(CACNA1C):c.3157-328G>T	noncoding	Benign
12	2606436	C	T	C2606436T	CACNA1C	NM_000719.7(CACNA1C):c.3157-175C>T	noncoding	Benign
12	2606521	A	G	A2606521G	CACNA1C	NM_000719.7(CACNA1C):c.3157-90A>G	noncoding	Benign
12	2606560	T	C	T2606560C	CACNA1C	NM_000719.7(CACNA1C):c.3157-51T>C	noncoding	Benign
12	2606675	T	C	T2606675C	CACNA1C	NM_000719.7(CACNA1C):c.3209+12T>C	noncoding	Benign
12	2606775	G	A	G2606775A	CACNA1C	NM_000719.7(CACNA1C):c.3209+112G>A	noncoding	Benign
12	2606792	T	C	T2606792C	CACNA1C	NM_000719.7(CACNA1C):c.3209+129T>C	noncoding	Benign
12	2606852	C	T	C2606852T	CACNA1C	NM_000719.7(CACNA1C):c.3210-132C>T	noncoding	Benign
12	2607310	C	T	C2607310T	CACNA1C	NM_000719.7(CACNA1C):c.3356+180C>T	noncoding	Benign
12	2607691	C	A	C2607691A	CACNA1C	NM_000719.7(CACNA1C):c.3356+561C>A	noncoding	Benign
12	2607994	T	C	T2607994C	CACNA1C	NM_000719.7(CACNA1C):c.3357-517T>C	noncoding	Benign
12	2608339	G	T	G2608339T	CACNA1C	NM_000719.7(CACNA1C):c.3357-172G>T	noncoding	Benign
12	2608541	G	A	G2608541A	CACNA1C	NM_000719.7(CACNA1C):c.3387G>A:p.Thr1129=	coding	Benign
12	2608651	T	C	T2608651C	CACNA1C	NM_000719.7(CACNA1C):c.3497T>C:p.Ile1166Thr	coding	Pathogenic
12	2609026	A	G	A2609026G	CACNA1C	NM_000719.7(CACNA1C):c.3558+314A>G	noncoding	Benign
12	2610549	C	T	C2610549T	CACNA1C	NM_000719.7(CACNA1C):c.3567C>T:p.Cys1189=	coding	Benign/Likely_benign
12	2610768	C	T	C2610768T	CACNA1C	NM_000719.7(CACNA1C):c.3717+69C>T	noncoding	Benign
12	2611570	T	C	T2611570C	CACNA1C	NM_000719.7(CACNA1C):c.3718-333T>C	noncoding	Benign
12	2611687	G	A	G2611687A	CACNA1C	NM_000719.7(CACNA1C):c.3718-216G>A	noncoding	Benign/Likely_benign
12	2611822	T	C	T2611822C	CACNA1C	NM_000719.7(CACNA1C):c.3718-81T>C	noncoding	Benign
12	2611971	C	T	C2611971T	CACNA1C	NM_000719.7(CACNA1C):c.3786C>T:p.Phe1262=	coding	Benign
12	2612190	G	A	G2612190A	CACNA1C	NM_000719.7(CACNA1C):c.3828+177G>A	noncoding	Benign
12	2633343	C	T	C2633343T	CACNA1C	NM_000719.7(CACNA1C):c.3829-954C>T	noncoding	Benign
12	2633683	A	G	A2633683G	CACNA1C	NM_000719.7(CACNA1C):c.3829-614A>G	coding	Benign/Likely_benign
12	2633772	A	G	A2633772G	CACNA1C	NM_000719.7(CACNA1C):c.3829-525A>G	noncoding	Benign
12	2634394	G	A	G2634394A	CACNA1C	NM_000719.7(CACNA1C):c.3912+14G>A	noncoding	Benign
12	2641455	C	T	C2641455T	CACNA1C	NM_000719.7(CACNA1C):c.3913-7020C>T	noncoding	Benign
12	2641843	A	G	A2641843G	CACNA1C	NM_000719.7(CACNA1C):c.3913-6632A>G	noncoding	Benign
12	2641955	C	A	C2641955A	CACNA1C	NM_000719.7(CACNA1C):c.3913-6520C>A	noncoding	Benign
12	2641959	G	A	G2641959A	CACNA1C	NM_000719.7(CACNA1C):c.3913-6516G>A	noncoding	Benign
12	2648175	T	C	T2648175C	CACNA1C	NM_000719.7(CACNA1C):c.3913-300T>C	noncoding	Benign
12	2648205	A	C	A2648205C	CACNA1C	NM_000719.7(CACNA1C):c.3913-270A>C	noncoding	Benign
12	2648495	C	T	C2648495T	CACNA1C	NM_000719.7(CACNA1C):c.3933C>T:p.Cys1311=	coding	Benign/Likely_benign
12	2648590	T	C	T2648590C	CACNA1C	NM_000719.7(CACNA1C):c.3945+83T>C	noncoding	Benign
12	2648603	T	C	T2648603C	CACNA1C	NM_000719.7(CACNA1C):c.3945+96T>C	noncoding	Benign
12	2648616	C	T	C2648616T	CACNA1C	NM_000719.7(CACNA1C):c.3945+109C>T	noncoding	Benign
12	2648719	C	T	C2648719T	CACNA1C	NM_000719.7(CACNA1C):c.3945+212C>T	noncoding	Benign/Likely_benign
12	2651342	G	A	G2651342A	CACNA1C	NM_000719.7(CACNA1C):c.3946-298G>A	noncoding	Benign
12	2651542	G	A	G2651542A	CACNA1C	NM_000719.7(CACNA1C):c.3946-98G>A	noncoding	Benign
12	2651642	C	T	C2651642T	CACNA1C	NM_000719.7(CACNA1C):c.3948C>T:p.Asn1316=	coding	Benign/Likely_benign
12	2651732	C	T	C2651732T	CACNA1C	NM_000719.7(CACNA1C):c.4038C>T:p.Ile1346=	coding	Benign
12	2651782	A	G	A2651782G	CACNA1C	NM_000719.7(CACNA1C):c.4074+14A>G	noncoding	Benign
12	2651804	G	A	G2651804A	CACNA1C	NM_000719.7(CACNA1C):c.4074+36G>A	noncoding	Benign
12	2651921	G	A	G2651921A	CACNA1C	NM_000719.7(CACNA1C):c.4074+153G>A	noncoding	Benign/Likely_benign
12	2653977	G	T	G2653977T	CACNA1C	NM_000719.7(CACNA1C):c.4140+77G>T	noncoding	Benign
12	2654111	G	A	G2654111A	CACNA1C	NM_000719.7(CACNA1C):c.4140+211G>A	noncoding	Benign
12	2654159	C	T	C2654159T	CACNA1C	NM_000719.7(CACNA1C):c.4140+259C>T	noncoding	Benign
12	2654826	A	G	A2654826G	CACNA1C	NM_000719.7(CACNA1C):c.4141-321A>G	noncoding	Benign
12	2654835	G	A	G2654835A	CACNA1C	NM_000719.7(CACNA1C):c.4141-312G>A	noncoding	Benign
12	2655176	C	T	C2655176T	CACNA1C	NM_000719.7(CACNA1C):c.4170C>T:p.Thr1390=	coding	Benign/Likely_benign
12	2655540	C	T	C2655540T	CACNA1C	NM_000719.7(CACNA1C):c.4232+302C>T	noncoding	Benign
12	2664689	G	A	G2664689A	CACNA1C	NM_000719.7(CACNA1C):c.4233-136G>A	noncoding	Benign
12	2664696	T	G	T2664696G	CACNA1C	NM_000719.7(CACNA1C):c.4233-129T>G	noncoding	Benign
12	2664704	A	G	A2664704G	CACNA1C	NM_000719.7(CACNA1C):c.4233-121A>G	noncoding	Benign
12	2664897	C	T	C2664897T	CACNA1C	NM_000719.7(CACNA1C):c.4305C>T:p.Ser1435=	coding	Benign/Likely_benign
12	2664909	C	T	C2664909T	CACNA1C	NM_000719.7(CACNA1C):c.4317C>T:p.Asn1439=	coding	Benign/Likely_benign
12	2665239	A	G	A2665239G	CACNA1C	NM_000719.7(CACNA1C):c.4398+249A>G	noncoding	Benign
12	2665435	C	A	C2665435A	CACNA1C	NM_000719.7(CACNA1C):c.4399-146C>A	noncoding	Benign
12	2665502	C	A	C2665502A	CACNA1C	NM_000719.7(CACNA1C):c.4399-79C>A	noncoding	Benign
12	2665607	C	G	C2665607G	CACNA1C	NM_000719.7(CACNA1C):c.4425C>G:p.Ile1475Met	coding	Pathogenic
12	2665667	T	C	T2665667C	CACNA1C	NM_000719.7(CACNA1C):c.4485T>C:p.Asp1495=	coding	Benign
12	2666535	C	T	C2666535T	CACNA1C	NM_000719.7(CACNA1C):c.4527-151C>T	noncoding	Benign/Likely_benign
12	2666619	C	T	C2666619T	CACNA1C	NM_000719.7(CACNA1C):c.4527-67C>T	noncoding	Benign/Likely_benign
12	2666666	T	C	T2666666C	CACNA1C	NM_000719.7(CACNA1C):c.4527-20T>C	noncoding	Benign
12	2666737	G	A	G2666737A	CACNA1C	NM_000719.7(CACNA1C):c.4578G>A:p.Pro1526=	coding	Benign
12	2668886	A	G	A2668886G	CACNA1C	NM_000719.7(CACNA1C):c.4624-47A>G	coding	Benign
12	2668924	C	T	C2668924T	CACNA1C	NM_000719.7(CACNA1C):c.4624-9C>T	coding	Benign
12	2669044	G	A	G2669044A	CACNA1C	NM_000719.7(CACNA1C):c.4726+9G>A	noncoding	Benign
12	2669191	G	A	G2669191A	CACNA1C	NM_000719.7(CACNA1C):c.4726+156G>A	noncoding	Benign
12	2674310	T	C	T2674310C	CACNA1C	NM_000719.7(CACNA1C):c.4727-231T>C	noncoding	Benign
12	2674351	G	A	G2674351A	CACNA1C	NM_000719.7(CACNA1C):c.4727-190G>A	noncoding	Benign/Likely_benign
12	2674417	A	C	A2674417C	CACNA1C	NM_000719.7(CACNA1C):c.4727-124A>C	noncoding	Benign
12	2674635	T	C	T2674635C	CACNA1C	NM_000719.7(CACNA1C):c.4821T>C:p.Pro1607=	coding	Benign
12	2674806	T	C	T2674806C	CACNA1C	NM_000719.7(CACNA1C):c.4828+164T>C	noncoding	Benign
12	2674838	G	T	G2674838T	CACNA1C	NM_000719.7(CACNA1C):c.4828+196G>T	noncoding	Benign
12	2676949	C	G	C2676949G	CACNA1C	NM_000719.7(CACNA1C):c.4829-145C>G	coding	Benign
12	2677087	G	A	G2677087A	CACNA1C	NM_000719.7(CACNA1C):c.4829-7G>A	coding	Benign
12	2677206	C	T	C2677206T	CACNA1C	NM_000719.7(CACNA1C):c.4941C>T:p.Asn1647=	coding	Benign/Likely_benign
12	2677238	G	A	G2677238A	CACNA1C-AS1;CACNA1C	NM_000719.7(CACNA1C):c.4956+17G>A	coding	Benign
12	2677511	G	C	G2677511C	CACNA1C	NM_000719.7(CACNA1C):c.4957-222G>C	coding	Benign
12	2677526	C	T	C2677526T	CACNA1C	NM_000719.7(CACNA1C):c.4957-207C>T	coding	Benign
12	2677840	C	T	C2677840T	CACNA1C	NM_000719.7(CACNA1C):c.5064C>T:p.Ser1688=	coding	Benign
12	2677884	C	T	C2677884T	CACNA1C	NM_000719.7(CACNA1C):c.5091+17C>T	coding	Benign/Likely_benign
12	2677885	G	A	G2677885A	CACNA1C	NM_000719.7(CACNA1C):c.5091+18G>A	coding	Benign
12	2677892	C	T	C2677892T	CACNA1C	NM_000719.7(CACNA1C):c.5091+25C>T	coding	Benign
12	2679449	C	T	C2679449T	CACNA1C	NM_000719.7(CACNA1C):c.5097C>T:p.Ala1699=	coding	Benign
12	2679491	C	T	C2679491T	CACNA1C	NM_000719.7(CACNA1C):c.5139C>T:p.Asp1713=	coding	Benign
12	2679509	C	G	C2679509G	CACNA1C	NM_000719.7(CACNA1C):c.5157C>G:p.Pro1719=	coding	Benign/Likely_benign
12	2679551	G	A	G2679551A	CACNA1C	NM_000719.7(CACNA1C):c.5199G>A:p.Ala1733=	coding	Benign/Likely_benign
12	2679566	C	T	C2679566T	CACNA1C	NM_000719.7(CACNA1C):c.5214C>T:p.Gly1738=	coding	Benign/Likely_benign
12	2679587	C	T	C2679587T	CACNA1C	NM_000719.7(CACNA1C):c.5235C>T:p.His1745=	coding	Benign/Likely_benign
12	2679644	C	T	C2679644T	CACNA1C	NM_000719.7(CACNA1C):c.5292C>T:p.Asn1764=	coding	Benign
12	2679683	C	T	C2679683T	CACNA1C	NM_000719.7(CACNA1C):c.5331C>T:p.Arg1777=	coding	Benign
12	2679712	C	T	C2679712T	CACNA1C	NM_000719.7(CACNA1C):c.5360C>T:p.Thr1787Met	coding	Benign
12	2679713	G	A	G2679713A	CACNA1C	NM_000719.7(CACNA1C):c.5361G>A:p.Thr1787=	coding	Benign
12	2679735	G	A	G2679735A	CACNA1C	NM_000719.7(CACNA1C):c.5383G>A:p.Gly1795Arg	coding	Benign
12	2679743	C	G	C2679743G	CACNA1C	NM_000719.7(CACNA1C):c.5391C>G:p.Pro1797=	coding	Benign/Likely_benign
12	2680055	A	G	A2680055G	CACNA1C	NM_000719.7(CACNA1C):c.5444+259A>G	noncoding	Benign
12	2680405	C	T	C2680405T	CACNA1C	NM_000719.7(CACNA1C):c.5444+609C>T	coding	Benign
12	2680883	C	T	C2680883T	CACNA1C	NM_000719.7(CACNA1C):c.5444+1087C>T	noncoding	Benign
12	2681964	C	T	C2681964T	CACNA1C	NM_000719.7(CACNA1C):c.5445-586C>T	coding	Benign
12	2681966	A	G	A2681966G	CACNA1C	NM_000719.7(CACNA1C):c.5445-584A>G	coding	Benign
12	2682288	A	G	A2682288G	CACNA1C	NM_000719.7(CACNA1C):c.5445-262A>G	noncoding	Benign
12	2682380	A	G	A2682380G	CACNA1C	NM_000719.7(CACNA1C):c.5445-170A>G	noncoding	Benign
12	2682583	G	A	G2682583A	CACNA1C	NM_000719.7(CACNA1C):c.5478G>A:p.Ala1826=	coding	Benign/Likely_benign
12	2685560	C	T	C2685560T	CACNA1C	NM_000719.7(CACNA1C):c.5574-176C>T	noncoding	Benign
12	2685562	T	C	T2685562C	CACNA1C	NM_000719.7(CACNA1C):c.5574-174T>C	noncoding	Benign
12	2685625	T	G	T2685625G	CACNA1C	NM_000719.7(CACNA1C):c.5574-111T>G	noncoding	Benign
12	2685766	A	G	A2685766G	CACNA1C	NM_000719.7(CACNA1C):c.5604A>G:p.Gln1868=	coding	Benign
12	2685771	C	T	C2685771T	CACNA1C	NM_000719.7(CACNA1C):c.5609C>T:p.Thr1870Met	coding	Benign
12	2685801	G	A	G2685801A	CACNA1C	NM_000719.7(CACNA1C):c.5639G>A:p.Arg1880Gln	coding	Benign/Likely_benign
12	2685811	G	A	G2685811A	CACNA1C	NM_000719.7(CACNA1C):c.5649G>A:p.Pro1883=	coding	Benign/Likely_benign
12	2685827	C	T	C2685827T	CACNA1C	NM_000719.7(CACNA1C):c.5665C>T:p.Arg1889Cys	coding	Benign/Likely_benign
12	2685853	C	A	C2685853A	CACNA1C	NM_000719.7(CACNA1C):c.5680+11C>A	noncoding	Benign
12	2685853	C	T	C2685853T	CACNA1C	NM_000719.7(CACNA1C):c.5680+11C>T	noncoding	Benign
12	2685857	C	T	C2685857T	CACNA1C	NM_000719.7(CACNA1C):c.5680+15C>T	noncoding	Benign
12	2686089	C	T	C2686089T	CACNA1C	NM_000719.7(CACNA1C):c.5681-77C>T	noncoding	Benign
12	2686418	G	A	G2686418A	CACNA1C	NM_000719.7(CACNA1C):c.5784+149G>A	noncoding	Benign
12	2686468	G	A	G2686468A	CACNA1C	NM_000719.7(CACNA1C):c.5784+199G>A	noncoding	Benign/Likely_benign
12	2688580	G	A	G2688580A	CACNA1C	NM_000719.7(CACNA1C):c.5918G>A:p.Arg1973Gln	coding	Benign/Likely_benign
12	2688593	C	T	C2688593T	CACNA1C	NM_000719.7(CACNA1C):c.5931C>T:p.Val1977=	coding	Benign/Likely_benign
12	2688985	G	A	G2688985A	CACNA1C	NM_000719.7(CACNA1C):c.6117+206G>A	noncoding	Benign
12	2690821	C	T	C2690821T	CACNA1C	NM_000719.7(CACNA1C):c.6118-79C>T	coding	Benign
12	2691121	C	T	C2691121T	CACNA1C	NM_000719.7(CACNA1C):c.6339C>T:p.Asp2113=	coding	Benign/Likely_benign
12	2691124	G	A	G2691124A	CACNA1C	NM_000719.7(CACNA1C):c.6342G>A:p.Ala2114=	coding	Benign/Likely_benign
12	2691483	C	T	C2691483T	CACNA1C	NM_000719.7(CACNA1C):c.*284C>T	noncoding	Benign
12	2799114	A	C	A2799114C	FKBP4	NM_002014.4(FKBP4):c.541A>C:p.Lys181Gln	coding	Benign
12	2800035	G	A	G2800035A	FKBP4	NM_002014.4(FKBP4):c.763-4G>A	noncoding	Benign
12	2801224	G	A	G2801224A	FKBP4	NM_002014.4(FKBP4):c.1140G>A:p.Leu380=	coding	Benign
12	2803240	G	C	G2803240C	FKBP4	NM_002014.4(FKBP4):c.1362G>C:p.Gln454His	coding	Benign
12	2858924	G	C	G2858924C	FOXM1	NM_021953.4(FOXM1):c.2006C>G:p.Pro669Arg	coding	Benign
12	2858928	G	T	G2858928T	FOXM1	NM_021953.4(FOXM1):c.2002C>A:p.Pro668Thr	coding	Benign
12	2859265	C	T	C2859265T	FOXM1	NM_021953.4(FOXM1):c.1665G>A:p.Val555=	coding	Benign
12	2864404	C	G	C2864404G	FOXM1	NM_021953.4(FOXM1):c.1182G>C:p.Ser394=	coding	Benign
12	2864500	G	A	G2864500A	FOXM1	NM_021953.4(FOXM1):c.1091-5C>T	noncoding	Benign
12	2865370	G	A	G2865370A	FOXM1	NM_021953.4(FOXM1):c.1005C>T:p.Pro335=	coding	Benign
12	2866477	C	T	C2866477T	FOXM1	NM_021953.4(FOXM1):c.891G>A:p.Arg297=	coding	Benign
12	2866516	G	A	G2866516A	FOXM1	NM_021953.4(FOXM1):c.852C>T:p.Ser284=	coding	Benign
12	2872212	T	G	T2872212G	FOXM1	NM_021953.4(FOXM1):c.538A>C:p.Ser180Arg	coding	Benign
12	2874463	G	A	G2874463A	FOXM1	NM_021953.4(FOXM1):c.16C>T:p.Arg6Cys	coding	Benign
12	2934524	C	A	C2934524A	TULP3	NM_003324.5(TULP3):c.887C>A:p.Ala296Glu	coding	Benign
12	2938229	G	A	G2938229A	TULP3	NM_003324.5(TULP3):c.1139G>A:p.Arg380His	coding	Benign
12	2940631	G	T	G2940631T	TULP3	NM_003324.5(TULP3):c.*1187G>T	coding	Benign
12	3540632	C	G	C3540632G	PRMT8	NM_019854.5(PRMT8):c.102C>G:p.Pro34=	coding	Benign
12	3540764	C	T	C3540764T	PRMT8	NM_019854.5(PRMT8):c.234C>T:p.Asp78=	coding	Benign
12	3592301	G	A	G3592301A	PRMT8	NM_019854.5(PRMT8):c.1050G>A:p.Arg350=	coding	Benign
12	4273433	A	G	A4273433G	CCND2	NC_000012.12:g.4273433A>G	noncoding	Benign
12	4273870	C	T	C4273870T	CCND2	NM_001759.4(CCND2):c.-171C>T	noncoding	Benign
12	4274005	G	T	G4274005T	CCND2	NM_001759.4(CCND2):c.-36G>T	noncoding	Benign
12	4278852	C	T	C4278852T	CCND2	NM_001759.4(CCND2):c.504C>T:p.Pro168=	coding	Benign
12	4278872	C	G	C4278872G	CCND2	NM_001759.4(CCND2):c.524C>G:p.Ser175Cys	coding	Benign/Likely_benign
12	4278918	C	G	C4278918G	CCND2	NM_001759.4(CCND2):c.570C>G:p.Thr190=	coding	Benign
12	4299924	G	A	G4299924A	CCND2	NM_001759.4(CCND2):c.785G>A:p.Arg262His	coding	Benign/Likely_benign
12	4299932	C	T	C4299932T	CCND2	NM_001759.4(CCND2):c.793C>T:p.Gln265Ter	coding	Pathogenic
12	4299947	A	T	A4299947T	CCND2	NM_001759.4(CCND2):c.808A>T:p.Lys270Ter	coding	Pathogenic
12	4299953	G	T	G4299953T	CCND2	NM_001759.4(CCND2):c.814G>T:p.Glu272Ter	coding	Pathogenic
12	4299977	A	G	A4299977G	CCND2	NM_001759.4(CCND2):c.838A>G:p.Thr280Ala	coding	Pathogenic
12	4299978	C	A	C4299978A	CCND2	NM_001759.4(CCND2):c.839C>A:p.Thr280Asn	coding	Pathogenic
12	4299980	C	G	C4299980G	CCND2	NM_001759.4(CCND2):c.841C>G:p.Pro281Ala	coding	Pathogenic
12	4299980	C	T	C4299980T	CCND2	NM_001759.4(CCND2):c.841C>T:p.Pro281Ser	coding	Pathogenic
12	4299981	C	G	C4299981G	CCND2	NM_001759.4(CCND2):c.842C>G:p.Pro281Arg	coding	Pathogenic
12	4299981	C	T	C4299981T	CCND2	NM_001759.4(CCND2):c.842C>T:p.Pro281Leu	coding	Pathogenic
12	4299990	T	G	T4299990G	CCND2	NM_001759.4(CCND2):c.851T>G:p.Val284Gly	coding	Pathogenic
12	4368281	T	G	T4368281G	FGF23	NM_020638.3(FGF23):c.*2062A>C	noncoding	Benign/Likely_benign
12	4368372	A	G	A4368372G	FGF23	NM_020638.3(FGF23):c.*1971T>C	noncoding	Benign
12	4368872	G	T	G4368872T	FGF23	NM_020638.3(FGF23):c.*1471C>A	noncoding	Benign
12	4368879	A	G	A4368879G	FGF23	NM_020638.3(FGF23):c.*1464T>C	noncoding	Benign
12	4368914	T	A	T4368914A	FGF23	NM_020638.3(FGF23):c.*1429A>T	noncoding	Benign
12	4369027	G	T	G4369027T	FGF23	NM_020638.3(FGF23):c.*1316C>A	noncoding	Benign
12	4369124	G	A	G4369124A	FGF23	NM_020638.3(FGF23):c.*1219C>T	noncoding	Benign
12	4369264	T	C	T4369264C	FGF23	NM_020638.3(FGF23):c.*1079A>G	noncoding	Benign
12	4369790	G	T	G4369790T	FGF23	NM_020638.3(FGF23):c.*553C>A	noncoding	Benign
12	4370314	G	C	G4370314C	FGF23	NM_020638.3(FGF23):c.*29C>G	noncoding	Benign/Likely_benign
12	4370320	A	C	A4370320C	FGF23	NM_020638.3(FGF23):c.*23T>G	noncoding	Benign
12	4370383	G	A	G4370383A	FGF23	NM_020638.3(FGF23):c.716C>T:p.Thr239Met	coding	Benign
12	4370516	G	A	G4370516A	FGF23	NM_020638.3(FGF23):c.583C>T:p.Pro195Ser	coding	Benign/Likely_benign
12	4370544	C	G	C4370544G	FGF23	NM_020638.3(FGF23):c.555G>C:p.Ser185=	coding	Benign/Likely_benign
12	4370563	C	T	C4370563T	FGF23	NM_020638.3(FGF23):c.536G>A:p.Arg179Gln	coding	Pathogenic
12	4370564	G	A	G4370564A	FGF23	NM_020638.3(FGF23):c.535C>T:p.Arg179Trp	coding	Pathogenic/Likely_pathogenic
12	4370572	C	T	C4370572T	FGF23	NM_020638.3(FGF23):c.527G>A:p.Arg176Gln	coding	Pathogenic
12	4370676	C	A	C4370676A	FGF23	NM_020638.3(FGF23):c.423G>T:p.Ala141=	coding	Benign
12	4370713	G	A	G4370713A	FGF23	NM_020638.3(FGF23):c.386C>T:p.Ser129Phe	coding	Pathogenic
12	4370714	A	G	A4370714G	FGF23	NM_020638.3(FGF23):c.385T>C:p.Ser129Pro	coding	Pathogenic
12	4370732	C	A	C4370732A	FGF23	NM_020638.3(FGF23):c.367G>T:p.Gly123Trp	coding	Pathogenic
12	4372622	A	G	A4372622G	FGF23	NM_020638.3(FGF23):c.287T>C:p.Met96Thr	coding	Pathogenic
12	4379353	A	G	A4379353G	FGF23	NM_020638.3(FGF23):c.211+19T>C	noncoding	Benign
12	4379635	G	C	G4379635C	FGF23	NM_020638.3(FGF23):c.-53C>G	noncoding	Benign/Likely_benign
12	4500218	G	A	G4500218A	C12orf4	NM_020374.4(C12orf4):c.1360C>T:p.Arg454Ter	coding	Pathogenic/Likely_pathogenic
12	4517091	G	A	G4517091A	C12orf4	NM_020374.4(C12orf4):c.1132C>T:p.Gln378Ter	coding	Pathogenic
12	4517141	A	G	A4517141G	C12orf4	NM_020374.4(C12orf4):c.1082T>C:p.Ile361Thr	coding	Benign
12	4541894	C	G	C4541894G	RAD51AP1	NM_006479.5(RAD51AP1):c.28C>G:p.Pro10Ala	coding	Benign
12	4541932	T	C	T4541932C	RAD51AP1	NM_006479.5(RAD51AP1):c.66T>C:p.Asp22=	coding	Benign
12	4543897	A	C	A4543897C	RAD51AP1	NM_006479.5(RAD51AP1):c.202A>C:p.Lys68Gln	coding	Benign
12	4545773	T	C	T4545773C	RAD51AP1	NM_006479.5(RAD51AP1):c.210-536T>C	noncoding	Benign
12	4558865	G	A	G4558865A	RAD51AP1	NM_006479.5(RAD51AP1):c.880G>A:p.Gly294Arg	coding	Benign
12	4615829	C	T	C4615829T	AKAP3	NM_001278309.2(AKAP3):c.2472G>A:p.Val824=	coding	Benign
12	4628734	G	A	G4628734A	AKAP3	NM_001278309.2(AKAP3):c.168C>T:p.Phe56=	coding	Benign
12	4649139	G	C	G4649139C	NDUFA9	NM_005002.5(NDUFA9):c.13G>C:p.Ala5Pro	coding	Benign
12	4653991	A	G	A4653991G	NDUFA9	NM_005002.5(NDUFA9):c.50-301A>G	noncoding	Benign
12	4654238	G	C	G4654238C	NDUFA9	NM_005002.5(NDUFA9):c.50-54G>C	noncoding	Benign
12	4657677	G	A	G4657677A	NDUFA9	NM_005002.5(NDUFA9):c.319-71G>A	noncoding	Benign
12	4657759	G	T	G4657759T	NDUFA9	NM_005002.5(NDUFA9):c.330G>T:p.Ala110=	coding	Benign
12	4659027	A	T	A4659027T	NDUFA9	NM_005002.5(NDUFA9):c.411-9A>T	noncoding	Benign
12	4659188	A	C	A4659188C	NDUFA9	NM_005002.5(NDUFA9):c.552+11A>C	noncoding	Benign
12	4659338	C	T	C4659338T	NDUFA9	NM_005002.5(NDUFA9):c.552+161C>T	noncoding	Benign
12	4659345	A	G	A4659345G	NDUFA9	NM_005002.5(NDUFA9):c.552+168A>G	noncoding	Benign
12	4659411	G	A	G4659411A	NDUFA9	NM_005002.5(NDUFA9):c.552+234G>A	noncoding	Benign
12	4659453	A	G	A4659453G	NDUFA9	NM_005002.5(NDUFA9):c.552+276A>G	noncoding	Benign
12	4659469	C	G	C4659469G	NDUFA9	NM_005002.5(NDUFA9):c.552+292C>G	noncoding	Benign
12	4662265	A	G	A4662265G	NDUFA9	NM_005002.5(NDUFA9):c.553-268A>G	noncoding	Benign
12	4662290	G	A	G4662290A	NDUFA9	NM_005002.5(NDUFA9):c.553-243G>A	noncoding	Benign
12	4662516	G	A	G4662516A	NDUFA9	NM_005002.5(NDUFA9):c.553-17G>A	noncoding	Benign
12	4662652	A	G	A4662652G	NDUFA9	NM_005002.5(NDUFA9):c.655+17A>G	noncoding	Benign
12	4668183	C	T	C4668183T	NDUFA9	NM_005002.5(NDUFA9):c.656-274C>T	noncoding	Benign
12	4668308	G	A	G4668308A	NDUFA9	NM_005002.5(NDUFA9):c.656-149G>A	noncoding	Benign
12	4669461	A	G	A4669461G	NDUFA9	NM_005002.5(NDUFA9):c.724-280A>G	noncoding	Benign
12	4682496	C	A	C4682496A	NDUFA9	NM_005002.5(NDUFA9):c.896+196C>A	noncoding	Benign
12	4682507	A	G	A4682507G	NDUFA9	NM_005002.5(NDUFA9):c.896+207A>G	noncoding	Benign
12	4685324	G	C	G4685324C	NDUFA9	NM_005002.5(NDUFA9):c.962G>C:p.Arg321Pro	coding	Pathogenic
12	4685567	A	G	A4685567G	NDUFA9	NM_005002.5(NDUFA9):c.963+242A>G	noncoding	Benign
12	4687052	C	T	C4687052T	NDUFA9	NM_005002.5(NDUFA9):c.1078C>T:p.Arg360Cys	coding	Pathogenic
12	4687078	T	C	T4687078C	NDUFA9	NM_005002.5(NDUFA9):c.1104T>C:p.Asp368=	coding	Benign/Likely_benign
12	4744540	G	A	G4744540A	GALNT8	NM_017417.2(GALNT8):c.700G>A:p.Glu234Lys	coding	Benign
12	4763996	C	T	C4763996T	GALNT8	NM_017417.2(GALNT8):c.1542C>T:p.Pro514=	coding	Benign
12	4765376	T	A	T4765376A	GALNT8	NM_017417.2(GALNT8):c.1594-3T>A	noncoding	Benign
12	4765526	A	G	A4765526G	GALNT8	NM_017417.2(GALNT8):c.1741A>G:p.Ile581Val	coding	Benign
12	4772514	G	A	G4772514A	GALNT8	NM_017417.2(GALNT8):c.1831G>A:p.Val611Met	coding	Benign
12	4909969	C	T	C4909969T	KCNA1	NM_000217.3(KCNA1):c.-1043C>T	noncoding	Benign
12	4910053	C	T	C4910053T	KCNA1	NM_000217.3(KCNA1):c.-959C>T	noncoding	Benign
12	4910173	C	T	C4910173T	KCNA1	NM_000217.3(KCNA1):c.-839C>T	noncoding	Benign
12	4910281	C	G	C4910281G	KCNA1	NM_000217.3(KCNA1):c.-731C>G	noncoding	Benign
12	4910374	C	T	C4910374T	KCNA1	NM_000217.3(KCNA1):c.-638C>T	noncoding	Benign
12	4910951	C	T	C4910951T	KCNA1	NM_000217.3(KCNA1):c.-428C>T	noncoding	Benign/Likely_benign
12	4911144	C	A	C4911144A	KCNA1	NM_000217.3(KCNA1):c.-235C>A	noncoding	Benign/Likely_benign
12	4911245	G	T	G4911245T	KCNA1	NM_000217.3(KCNA1):c.-134G>T	noncoding	Benign/Likely_benign
12	4911269	G	A	G4911269A	KCNA1	NM_000217.3(KCNA1):c.-110G>A	noncoding	Benign
12	4911379	A	G	A4911379G	KCNA1	NM_000217.3(KCNA1):c.1A>G:p.Met1Val	coding	Benign
12	4911492	C	T	C4911492T	KCNA1	NM_000217.3(KCNA1):c.114C>T:p.Arg38=	coding	Benign/Likely_benign
12	4911615	G	A	G4911615A	KCNA1	NM_000217.3(KCNA1):c.237G>A:p.Glu79=	coding	Benign
12	4911771	G	A	G4911771A	KCNA1	NM_000217.3(KCNA1):c.393G>A:p.Arg131=	coding	Benign/Likely_benign
12	4911783	C	T	C4911783T	KCNA1	NM_000217.3(KCNA1):c.405C>T:p.Gly135=	coding	Benign
12	4911898	G	T	G4911898T	KCNA1	NM_000217.3(KCNA1):c.520G>T:p.Val174Phe	coding	Pathogenic
12	4911908	T	A	T4911908A	KCNA1	NM_000217.3(KCNA1):c.530T>A:p.Ile177Asn	coding	Pathogenic
12	4911929	T	G	T4911929G	KCNA1	NM_000217.3(KCNA1):c.551T>G:p.Phe184Cys	coding	Pathogenic
12	4912032	A	T	A4912032T	KCNA1	NM_000217.3(KCNA1):c.654A>T:p.Thr218=	coding	Benign
12	4912054	A	G	A4912054G	KCNA1	NM_000217.3(KCNA1):c.676A>G:p.Thr226Ala	coding	Pathogenic
12	4912055	C	A	C4912055A	KCNA1	NM_000217.3(KCNA1):c.677C>A:p.Thr226Lys	coding	Pathogenic
12	4912055	C	G	C4912055G	KCNA1	NM_000217.3(KCNA1):c.677C>G:p.Thr226Arg	coding	Pathogenic
12	4912055	C	T	C4912055T	KCNA1	NM_000217.3(KCNA1):c.677C>T:p.Thr226Met	coding	Pathogenic
12	4912062	T	C	T4912062C	KCNA1	NM_000217.3(KCNA1):c.684T>C:p.Cys228=	coding	Benign
12	4912093	C	A	C4912093A	KCNA1	NM_000217.3(KCNA1):c.715C>A:p.Arg239Ser	coding	Pathogenic
12	4912102	G	C	G4912102C	KCNA1	NM_000217.3(KCNA1):c.724G>C:p.Ala242Pro	coding	Pathogenic
12	4912109	C	A	C4912109A	KCNA1	NM_000217.3(KCNA1):c.731C>A:p.Pro244His	coding	Pathogenic
12	4912123	T	A	T4912123A	KCNA1	NM_000217.3(KCNA1):c.745T>A:p.Phe249Ile	coding	Pathogenic
12	4912141	A	G	A4912141G	KCNA1	NM_000217.3(KCNA1):c.763A>G:p.Asn255Asp	coding	Pathogenic
12	4912182	G	C	G4912182C	KCNA1	NM_000217.3(KCNA1):c.804G>C:p.Thr268=	coding	Benign
12	4912353	G	C	G4912353C	KCNA1	NM_000217.3(KCNA1):c.975G>C:p.Glu325Asp	coding	Pathogenic
12	4912503	C	T	C4912503T	KCNA1	NM_000217.3(KCNA1):c.1125C>T:p.Tyr375=	coding	Benign/Likely_benign
12	4912588	G	A	G4912588A	KCNA1	NM_000217.3(KCNA1):c.1210G>A:p.Val404Ile	coding	Pathogenic
12	4912592	C	T	C4912592T	KCNA1	NM_000217.3(KCNA1):c.1214C>T:p.Pro405Leu	coding	Pathogenic
12	4912601	T	C	T4912601C	KCNA1	NM_000217.3(KCNA1):c.1223T>C:p.Val408Ala	coding	Pathogenic
12	4912627	C	T	C4912627T	KCNA1	NM_000217.3(KCNA1):c.1249C>T:p.Arg417Ter	coding	Pathogenic
12	4912674	C	G	C4912674G	KCNA1	NM_000217.3(KCNA1):c.1296C>G:p.Ser432=	coding	Benign
12	4912705	C	G	C4912705G	KCNA1	NM_000217.3(KCNA1):c.1327C>G:p.Arg443Gly	coding	Benign/Likely_benign
12	4912818	T	A	T4912818A	KCNA1	NM_000217.3(KCNA1):c.1440T>A:p.Thr480=	coding	Benign
12	4912875	G	A	G4912875A	KCNA1	NM_000217.3(KCNA1):c.*9G>A	noncoding	Benign
12	4912993	A	C	A4912993C	KCNA1	NM_000217.3(KCNA1):c.*127A>C	noncoding	Benign/Likely_benign
12	4913055	G	A	G4913055A	KCNA1	NM_000217.3(KCNA1):c.*189G>A	noncoding	Benign/Likely_benign
12	4913094	A	C	A4913094C	KCNA1	NM_000217.3(KCNA1):c.*228A>C	noncoding	Benign
12	4913272	C	T	C4913272T	KCNA1	NM_000217.3(KCNA1):c.*406C>T	noncoding	Benign
12	4913383	T	C	T4913383C	KCNA1	NM_000217.3(KCNA1):c.*517T>C	noncoding	Benign/Likely_benign
12	4913652	G	A	G4913652A	KCNA1	NM_000217.3(KCNA1):c.*786G>A	noncoding	Benign/Likely_benign
12	4913813	C	T	C4913813T	KCNA1	NM_000217.3(KCNA1):c.*947C>T	noncoding	Benign
12	4914388	C	G	C4914388G	KCNA1	NM_000217.3(KCNA1):c.*1522C>G	noncoding	Benign/Likely_benign
12	4914390	A	G	A4914390G	KCNA1	NM_000217.3(KCNA1):c.*1524A>G	noncoding	Benign
12	4914443	A	T	A4914443T	KCNA1	NM_000217.3(KCNA1):c.*1577A>T	noncoding	Benign/Likely_benign
12	4914547	T	C	T4914547C	KCNA1	NM_000217.3(KCNA1):c.*1681T>C	noncoding	Benign
12	4914758	C	T	C4914758T	KCNA1	NM_000217.3(KCNA1):c.*1892C>T	noncoding	Benign/Likely_benign
12	4914793	A	T	A4914793T	KCNA1	NM_000217.3(KCNA1):c.*1927A>T	noncoding	Benign
12	4914871	G	A	G4914871A	KCNA1	NM_000217.3(KCNA1):c.*2005G>A	noncoding	Benign/Likely_benign
12	4914946	G	A	G4914946A	KCNA1	NM_000217.3(KCNA1):c.*2080G>A	noncoding	Benign/Likely_benign
12	4914987	T	C	T4914987C	KCNA1	NM_000217.3(KCNA1):c.*2121T>C	noncoding	Benign
12	4914989	A	G	A4914989G	KCNA1	NM_000217.3(KCNA1):c.*2123A>G	noncoding	Benign/Likely_benign
12	4915040	C	T	C4915040T	KCNA1	NM_000217.3(KCNA1):c.*2174C>T	noncoding	Benign/Likely_benign
12	4915174	C	G	C4915174G	KCNA1	NM_000217.3(KCNA1):c.*2308C>G	noncoding	Benign/Likely_benign
12	4915179	C	T	C4915179T	KCNA1	NM_000217.3(KCNA1):c.*2313C>T	noncoding	Benign/Likely_benign
12	4915199	G	A	G4915199A	KCNA1	NM_000217.3(KCNA1):c.*2333G>A	noncoding	Benign
12	4915462	A	T	A4915462T	KCNA1	NM_000217.3(KCNA1):c.*2596A>T	noncoding	Benign/Likely_benign
12	4915593	C	T	C4915593T	KCNA1	NM_000217.3(KCNA1):c.*2727C>T	noncoding	Benign/Likely_benign
12	4915600	G	A	G4915600A	KCNA1	NM_000217.3(KCNA1):c.*2734G>A	noncoding	Benign
12	4915928	T	C	T4915928C	KCNA1	NM_000217.3(KCNA1):c.*3062T>C	noncoding	Benign
12	4916590	C	T	C4916590T	KCNA1	NM_000217.3(KCNA1):c.*3724C>T	noncoding	Benign/Likely_benign
12	4916706	G	A	G4916706A	KCNA1	NM_000217.3(KCNA1):c.*3840G>A	noncoding	Benign/Likely_benign
12	4917100	A	G	A4917100G	KCNA1	NM_000217.3(KCNA1):c.*4234A>G	noncoding	Benign/Likely_benign
12	4917305	C	T	C4917305T	KCNA1	NM_000217.3(KCNA1):c.*4439C>T	noncoding	Benign
12	4917457	T	G	T4917457G	KCNA1	NM_000217.3(KCNA1):c.*4591T>G	noncoding	Benign
12	4917501	G	C	G4917501C	KCNA1	NM_000217.3(KCNA1):c.*4635G>C	noncoding	Benign/Likely_benign
12	4917529	G	A	G4917529A	KCNA1	NM_000217.3(KCNA1):c.*4663G>A	noncoding	Benign/Likely_benign
12	4918007	G	A	G4918007A	KCNA1	NM_000217.3(KCNA1):c.*5141G>A	noncoding	Benign
12	4918011	T	C	T4918011C	KCNA1	NM_000217.3(KCNA1):c.*5145T>C	noncoding	Benign
12	4918057	G	A	G4918057A	KCNA1	NM_000217.3(KCNA1):c.*5191G>A	noncoding	Benign/Likely_benign
12	4918075	C	T	C4918075T	KCNA1	NM_000217.3(KCNA1):c.*5209C>T	noncoding	Benign/Likely_benign
12	5043981	C	T	C5043981T	KCNA5	NM_002234.4(KCNA5):c.-167C>T	noncoding	Benign
12	5044239	G	T	G5044239T	KCNA5	NM_002234.4(KCNA5):c.92G>T:p.Gly31Val	coding	Benign/Likely_benign
12	5044290	A	G	A5044290G	KCNA5	NM_002234.4(KCNA5):c.143A>G:p.Glu48Gly	coding	Pathogenic
12	5044327	G	A	G5044327A	KCNA5	NM_002234.4(KCNA5):c.180G>A:p.Ala60=	coding	Benign/Likely_benign
12	5044354	G	T	G5044354T	KCNA5	NM_002234.4(KCNA5):c.207G>T:p.Pro69=	coding	Benign
12	5044376	C	T	C5044376T	KCNA5	NM_002234.4(KCNA5):c.229C>T:p.Pro77Ser	coding	Benign/Likely_benign
12	5044528	C	T	C5044528T	KCNA5	NM_002234.4(KCNA5):c.381C>T:p.Ser127=	coding	Benign/Likely_benign
12	5044898	G	A	G5044898A	KCNA5	NM_002234.4(KCNA5):c.751G>A:p.Ala251Thr	coding	Benign/Likely_benign
12	5045076	C	T	C5045076T	KCNA5	NM_002234.4(KCNA5):c.929C>T:p.Pro310Leu	coding	Benign/Likely_benign
12	5045167	C	T	C5045167T	KCNA5	NM_002234.4(KCNA5):c.1020C>T:p.Leu340=	coding	Benign
12	5045270	G	T	G5045270T	KCNA5	NM_002234.4(KCNA5):c.1123G>T:p.Glu375Ter	coding	Pathogenic
12	5045296	T	C	T5045296C	KCNA5	NM_002234.4(KCNA5):c.1149T>C:p.Gly383=	coding	Benign
12	5045297	G	A	G5045297A	KCNA5	NM_002234.4(KCNA5):c.1150G>A:p.Gly384Arg	coding	Benign/Likely_benign
12	5045317	G	A	G5045317A	KCNA5	NM_002234.4(KCNA5):c.1170G>A:p.Gly390=	coding	Benign
12	5045500	C	G	C5045500G	KCNA5	NM_002234.4(KCNA5):c.1353C>G:p.Ala451=	coding	Benign
12	5045500	C	T	C5045500T	KCNA5	NM_002234.4(KCNA5):c.1353C>T:p.Ala451=	coding	Benign
12	5045644	G	A	G5045644A	KCNA5	NM_002234.4(KCNA5):c.1497G>A:p.Leu499=	coding	Benign/Likely_benign
12	5045874	C	T	C5045874T	KCNA5	NM_002234.4(KCNA5):c.1727C>T:p.Ala576Val	coding	Pathogenic
12	5045975	G	A	G5045975A	KCNA5	NM_002234.4(KCNA5):c.1828G>A:p.Glu610Lys	coding	Pathogenic
12	5046497	A	T	A5046497T	KCNA5	NM_002234.4(KCNA5):c.*508A>T	noncoding	Benign
12	5046725	A	T	A5046725T	KCNA5	NM_002234.4(KCNA5):c.*736A>T	noncoding	Benign
12	5494484	C	T	C5494484T	NTF3	NM_001102654.2(NTF3):c.309C>T:p.Thr103=	coding	Benign
12	5494760	C	T	C5494760T	NTF3	NM_001102654.2(NTF3):c.585C>T:p.Gly195=	coding	Benign
12	5494823	C	T	C5494823T	NTF3	NM_001102654.2(NTF3):c.648C>T:p.Asn216=	coding	Benign
12	5494901	A	G	A5494901G	NTF3	NM_001102654.2(NTF3):c.726A>G:p.Ser242=	coding	Benign
12	5635329	T	C	T5635329C	ANO2	NM_001278596.3(ANO2):c.1654A>G:p.Ile552Val	coding	Benign
12	5732874	G	A	G5732874A	ANO2	NM_001278596.3(ANO2):c.1441C>T:p.Arg481Cys	coding	Benign
12	5949140	A	G	A5949140G	VWF	NM_000552.4(VWF):c.8317T>C:p.Cys2773Arg	coding	Pathogenic
12	5949747	G	A	G5949747A	VWF	NM_000552.4(VWF):c.8253+39C>T	noncoding	Benign
12	5949754	A	G	A5949754G	VWF	NM_000552.4(VWF):c.8253+32T>C	noncoding	Benign
12	5951794	G	A	G5951794A	VWF	NM_000552.4(VWF):c.8155+50C>T	noncoding	Benign
12	5951903	T	G	T5951903G	VWF	NM_000552.4(VWF):c.8116-20A>C	noncoding	Benign
12	5952393	C	T	C5952393T	VWF	NM_000552.4(VWF):c.8113G>A:p.Gly2705Arg	coding	Benign/Likely_benign
12	5952509	G	A	G5952509A	VWF	NM_000552.4(VWF):c.7997C>T:p.Thr2666Met	coding	Benign/Likely_benign
12	5967612	G	A	G5967612A	VWF	NM_000552.4(VWF):c.7771-10C>T	noncoding	Benign
12	5967615	G	A	G5967615A	VWF	NM_000552.4(VWF):c.7771-13C>T	noncoding	Benign/Likely_benign
12	5968126	C	A	C5968126A	VWF	NM_000552.5(VWF):c.7770+1G>T	noncoding	Pathogenic
12	5969258	A	T	A5969258T	VWF	NM_000552.4(VWF):c.7682T>A:p.Phe2561Tyr	coding	Benign/Likely_benign
12	5969337	G	A	G5969337A	VWF	NM_000552.4(VWF):c.7603C>T:p.Arg2535Ter	coding	Pathogenic
12	5976158	G	A	G5976158A	VWF	NM_000552.4(VWF):c.7390C>T:p.Arg2464Cys	coding	Pathogenic/Likely_pathogenic
12	5976279	G	A	G5976279A	VWF	NM_000552.4(VWF):c.7288-19C>T	noncoding	Benign
12	5981834	A	G	A5981834G	VWF	NM_000552.4(VWF):c.7239T>C:p.Thr2413=	coding	Benign/Likely_benign
12	5981988	C	A	C5981988A	VWF	NM_000552.4(VWF):c.7085G>T:p.Cys2362Phe	coding	Pathogenic
12	5981998	G	A	G5981998A	VWF	NM_000552.4(VWF):c.7082-7C>T	noncoding	Benign
12	5983151	G	T	G5983151T	VWF	NM_000552.4(VWF):c.7080C>A:p.Cys2360Ter	coding	Pathogenic
12	5985618	T	C	T5985618C	VWF	NM_000552.4(VWF):c.6846A>G:p.Thr2282=	coding	Benign/Likely_benign
12	5985679	G	A	G5985679A	VWF	NM_000552.4(VWF):c.6799-14C>T	noncoding	Benign
12	5991805	G	A	G5991805A	VWF	NM_000552.4(VWF):c.6798+14C>T	noncoding	Benign/Likely_benign
12	5993906	C	T	C5993906T	VWF	NM_000552.4(VWF):c.6554G>A:p.Arg2185Gln	coding	Benign/Likely_benign
12	5994115	A	T	A5994115T	VWF	NM_000552.4(VWF):c.6345T>A:p.Thr2115=	coding	Benign/Likely_benign
12	5994484	G	A	G5994484A	VWF	NM_000552.4(VWF):c.6187C>T:p.Pro2063Ser	coding	Benign/Likely_benign
12	5996221	G	A	G5996221A	VWF	NM_000552.4(VWF):c.5844C>T:p.Cys1948=	coding	Benign/Likely_benign
12	6011792	G	A	G6011792A	VWF	NM_000552.4(VWF):c.5667C>T:p.Pro1889=	coding	Benign/Likely_benign
12	6012054	C	T	C6012054T	VWF	NM_000552.4(VWF):c.5664+33G>A	noncoding	Benign
12	6013431	A	G	A6013431G	VWF	NM_000552.4(VWF):c.5620+50T>C	noncoding	Benign
12	6013544	G	A	G6013544A	VWF	NM_000552.4(VWF):c.5557C>T:p.Arg1853Ter	coding	Pathogenic
12	6016197	A	C	A6016197C	VWF	NM_000552.4(VWF):c.5347T>G:p.Ser1783Ala	coding	Pathogenic
12	6016231	C	A	C6016231A	VWF	NM_000552.4(VWF):c.5313G>T:p.Gly1771=	coding	Benign/Likely_benign
12	6016279	C	G	C6016279G	VWF	NM_000552.4(VWF):c.5312-47G>C	noncoding	Benign
12	6016654	G	A	G6016654A	VWF	NM_000552.4(VWF):c.5173C>T:p.Pro1725Ser	coding	Benign
12	6018443	G	A	G6018443A	VWF	NM_000552.4(VWF):c.4975C>T:p.Arg1659Ter	coding	Pathogenic
12	6018535	A	G	A6018535G	VWF	NM_000552.4(VWF):c.4883T>C:p.Ile1628Thr	coding	Pathogenic
12	6018581	A	G	A6018581G	VWF	NM_000552.4(VWF):c.4837T>C:p.Ser1613Pro	coding	Pathogenic
12	6018598	A	T	A6018598T	VWF	NM_000552.4(VWF):c.4820T>A:p.Val1607Asp	coding	Pathogenic
12	6018628	C	T	C6018628T	VWF	NM_000552.4(VWF):c.4790G>A:p.Arg1597Gln	coding	Pathogenic
12	6018629	G	A	G6018629A	VWF	NM_000552.4(VWF):c.4789C>T:p.Arg1597Trp	coding	Pathogenic/Likely_pathogenic
12	6018722	G	A	G6018722A	VWF	NM_000552.4(VWF):c.4696C>T:p.Arg1566Ter	coding	Pathogenic
12	6018725	C	A	C6018725A	VWF	NM_000552.4(VWF):c.4693G>T:p.Val1565Leu	coding	Benign/Likely_benign
12	6018753	T	G	T6018753G	VWF	NM_000552.4(VWF):c.4665A>C:p.Ala1555=	coding	Benign/Likely_benign
12	6018777	A	G	A6018777G	VWF	NM_000552.4(VWF):c.4641T>C:p.Thr1547=	coding	Benign/Likely_benign
12	6018877	A	C	A6018877C	VWF	NM_000552.4(VWF):c.4541T>G:p.Phe1514Cys	coding	Pathogenic
12	6018922	A	T	A6018922T	VWF	NM_000552.4(VWF):c.4496T>A:p.Val1499Glu	coding	Pathogenic
12	6018975	C	A	C6018975A	VWF	NM_000552.4(VWF):c.4443G>T:p.Gly1481=	coding	Benign/Likely_benign
12	6019004	C	G	C6019004G	VWF	NM_000552.4(VWF):c.4414G>C:p.Asp1472His	coding	Benign/Likely_benign
12	6019036	G	A	G6019036A	VWF	NM_000552.4(VWF):c.4382C>T:p.Ala1461Val	coding	Pathogenic
12	6019114	T	C	T6019114C	VWF	NM_000552.4(VWF):c.4304A>G:p.Asn1435Ser	coding	Benign/Likely_benign
12	6019277	T	C	T6019277C	VWF	NM_000552.4(VWF):c.4141A>G:p.Thr1381Ala	coding	Benign/Likely_benign
12	6019280	T	C	T6019280C	VWF	NM_000552.4(VWF):c.4138A>G:p.Ile1380Val	coding	Benign/Likely_benign
12	6019283	G	A	G6019283A	VWF	NM_000552.4(VWF):c.4135C>T:p.Arg1379Cys	coding	Pathogenic
12	6019297	C	T	C6019297T	VWF	NM_000552.4(VWF):c.4121G>A:p.Arg1374His	coding	Pathogenic
12	6019298	G	A	G6019298A	VWF	NM_000552.4(VWF):c.4120C>T:p.Arg1374Cys	coding	Pathogenic
12	6019396	C	T	C6019396T	VWF	NM_000552.4(VWF):c.4022G>A:p.Arg1341Gln	coding	Pathogenic
12	6019412	G	A	G6019412A	VWF	NM_000552.4(VWF):c.4006C>T:p.Arg1336Ter	coding	Pathogenic
12	6019448	C	T	C6019448T	VWF	NM_000552.4(VWF):c.3970G>A:p.Gly1324Ser	coding	Pathogenic
12	6019472	C	T	C6019472T	VWF	NM_000552.4(VWF):c.3946G>A:p.Val1316Met	coding	Pathogenic
12	6019478	C	G	C6019478G	VWF	NM_000552.4(VWF):c.3940G>C:p.Val1314Leu	coding	Pathogenic
12	6019479	C	G	C6019479G	VWF	NM_000552.4(VWF):c.3939G>C:p.Trp1313Cys	coding	Pathogenic
12	6019487	G	A	G6019487A	VWF	NM_000552.4(VWF):c.3931C>T:p.Gln1311Ter	coding	Pathogenic
12	6019493	T	C	T6019493C	VWF	NM_000552.4(VWF):c.3925A>G:p.Ile1309Val	coding	Pathogenic
12	6019496	G	A	G6019496A	VWF	NM_000552.4(VWF):c.3922C>T:p.Arg1308Cys	coding	Pathogenic/Likely_pathogenic
12	6019501	C	T	C6019501T	VWF	NM_000552.4(VWF):c.3917G>A:p.Arg1306Gln	coding	Pathogenic
12	6019502	G	A	G6019502A	VWF	NM_000552.4(VWF):c.3916C>T:p.Arg1306Trp	coding	Pathogenic/Likely_pathogenic
12	6019564	G	A	G6019564A	VWF	NM_000552.4(VWF):c.3854C>T:p.Ser1285Phe	coding	Pathogenic
12	6019604	A	G	A6019604G	VWF	NM_000552.4(VWF):c.3814T>C:p.Cys1272Arg	coding	Pathogenic
12	6019623	C	T	C6019623T	VWF	NM_000552.4(VWF):c.3795G>A:p.Pro1265=	coding	Benign/Likely_benign
12	6019629	C	T	C6019629T	VWF	NM_000552.4(VWF):c.3789G>A:p.Ser1263=	coding	Benign/Likely_benign
12	6019645	T	C	T6019645C	VWF	NM_000552.5(VWF):c.3773A>G:p.Tyr1258Cys	coding	Pathogenic
12	6021960	C	T	C6021960T	VWF	NM_000552.4(VWF):c.3614G>A:p.Arg1205His	coding	Pathogenic
12	6021995	A	G	A6021995G	VWF	NM_000552.4(VWF):c.3579T>C:p.Pro1193=	coding	Benign/Likely_benign
12	6022068	C	T	C6022068T	VWF	NM_000552.4(VWF):c.3539-33G>A	noncoding	Benign
12	6022084	G	A	G6022084A	VWF	NM_000552.4(VWF):c.3539-49C>T	noncoding	Benign
12	6022740	C	T	C6022740T	VWF	NM_000552.4(VWF):c.3538G>A:p.Gly1180Arg	coding	Pathogenic
12	6022833	A	G	A6022833G	VWF	NM_000552.4(VWF):c.3445T>C:p.Cys1149Arg	coding	Pathogenic
12	6022841	T	C	T6022841C	VWF	NM_000552.4(VWF):c.3437A>G:p.Tyr1146Cys	coding	Pathogenic
12	6022848	A	C	A6022848C	VWF	NM_000552.4(VWF):c.3430T>G:p.Trp1144Gly	coding	Pathogenic
12	6022852	A	G	A6022852G	VWF	NM_000552.4(VWF):c.3426T>C:p.Cys1142=	coding	Benign/Likely_benign
12	6022864	G	A	G6022864A	VWF	NM_000552.4(VWF):c.3414C>T:p.Asn1138=	coding	Benign/Likely_benign
12	6023618	C	T	C6023618T	VWF	NM_000552.4(VWF):c.3379+13G>A	noncoding	Benign/Likely_benign
12	6023624	T	G	T6023624G	VWF	NM_000552.4(VWF):c.3379+7A>C	noncoding	Benign
12	6023630	C	T	C6023630T	VWF	NM_000552.4(VWF):c.3379+1G>A	noncoding	Pathogenic
12	6023752	G	A	G6023752A	VWF	NM_000552.4(VWF):c.3258C>T:p.Tyr1086=	coding	Benign/Likely_benign
12	6023770	A	G	A6023770G	VWF	NM_000552.4(VWF):c.3240T>C:p.Tyr1080=	coding	Benign/Likely_benign
12	6025549	G	A	G6025549A	VWF	NM_000552.4(VWF):c.3222+31C>T	noncoding	Benign
12	6025624	A	G	A6025624G	VWF	NM_000552.4(VWF):c.3178T>C:p.Cys1060Arg	coding	Pathogenic
12	6025723	G	A	G6025723A	VWF	NM_000552.4(VWF):c.3109-30C>T	noncoding	Benign
12	6029388	C	T	C6029388T	VWF	NM_000552.4(VWF):c.2921G>A:p.Trp974Ter	coding	Pathogenic
12	6029429	C	T	C6029429T	VWF	NM_000552.4(VWF):c.2880G>A:p.Arg960=	coding	Benign/Likely_benign
12	6031493	C	T	C6031493T	VWF	NM_000552.4(VWF):c.2771G>A:p.Arg924Gln	coding	Benign/Likely_benign
12	6034812	C	T	C6034812T	VWF	NM_000552.4(VWF):c.2561G>A:p.Arg854Gln	coding	Pathogenic/Likely_pathogenic
12	6036363	G	A	G6036363A	VWF	NM_000552.4(VWF):c.2546+25C>T	noncoding	Benign
12	6036483	A	T	A6036483T	VWF	NM_000552.4(VWF):c.2451T>A:p.His817Gln	coding	Benign/Likely_benign
12	6036488	G	A	G6036488A	VWF	NM_000552.4(VWF):c.2446C>T:p.Arg816Trp	coding	Pathogenic
12	6044322	C	A	C6044322A	VWF	NM_000552.4(VWF):c.2411G>T:p.Cys804Phe	coding	Pathogenic
12	6044348	A	G	A6044348G	VWF	NM_000552.4(VWF):c.2385T>C:p.Tyr795=	coding	Benign/Likely_benign
12	6044349	T	C	T6044349C	VWF	NM_000552.4(VWF):c.2384A>G:p.Tyr795Cys	coding	Pathogenic
12	6044368	T	C	T6044368C	VWF	NM_000552.4(VWF):c.2365A>G:p.Thr789Ala	coding	Benign/Likely_benign
12	6044493	G	T	G6044493T	VWF	NM_000552.4(VWF):c.2282-42C>A	noncoding	Benign
12	6046725	C	T	C6046725T	VWF	NM_000552.4(VWF):c.2279G>A:p.Arg760His	coding	Pathogenic
12	6046784	C	T	C6046784T	VWF	NM_000552.4(VWF):c.2220G>A:p.Met740Ile	coding	Benign/Likely_benign
12	6056833	G	A	G6056833A	VWF	NM_000552.4(VWF):c.1945+24C>T	noncoding	Benign
12	6057008	G	A	G6057008A	VWF	NM_000552.4(VWF):c.1794C>T:p.Ala598=	coding	Benign/Likely_benign
12	6057930	C	T	C6057930T	VWF	NM_000552.4(VWF):c.1648G>A:p.Gly550Arg	coding	Pathogenic
12	6057952	C	T	C6057952T	VWF	NM_000552.4(VWF):c.1626G>A:p.Ala542=	coding	Benign/Likely_benign
12	6057995	T	C	T6057995C	VWF	NM_000552.4(VWF):c.1583A>G:p.Asn528Ser	coding	Pathogenic
12	6058030	A	G	A6058030G	VWF	NM_000552.4(VWF):c.1548T>C:p.Tyr516=	coding	Benign/Likely_benign
12	6058030	A	T	A6058030T	VWF	NM_000552.4(VWF):c.1548T>A:p.Tyr516Ter	coding	Pathogenic
12	6062953	C	A	C6062953A	VWF	NM_000552.4(VWF):c.1533+1G>T	noncoding	Pathogenic
12	6063036	T	C	T6063036C	VWF	NM_000552.4(VWF):c.1451A>G:p.His484Arg	coding	Benign/Likely_benign
12	6063064	A	G	A6063064G	VWF	NM_000552.4(VWF):c.1433-10T>C	noncoding	Benign/Likely_benign
12	6064267	C	T	C6064267T	VWF	NM_000552.4(VWF):c.1411G>A:p.Val471Ile	coding	Benign/Likely_benign
12	6064349	G	A	G6064349A	VWF	NM_000552.4(VWF):c.1329C>T:p.Ser443=	coding	Benign/Likely_benign
12	6065248	T	G	T6065248G	VWF	NM_000552.4(VWF):c.1182A>C:p.Ser394=	coding	Benign/Likely_benign
12	6065257	T	A	T6065257A	VWF	NM_000552.4(VWF):c.1173A>T:p.Thr391=	coding	Benign/Likely_benign
12	6072369	G	T	G6072369T	VWF	NM_000552.4(VWF):c.1071C>A:p.Tyr357Ter	coding	Pathogenic
12	6072469	G	A	G6072469A	VWF	NM_000552.4(VWF):c.998-27C>T	noncoding	Benign
12	6073646	G	A	G6073646A	VWF	NM_000552.4(VWF):c.970C>T:p.Arg324Ter	coding	Pathogenic
12	6073662	A	T	A6073662T	VWF	NM_000552.4(VWF):c.954T>A:p.Asn318Lys	coding	Benign/Likely_benign
12	6075392	G	A	G6075392A	VWF	NM_000552.4(VWF):c.817C>T:p.Arg273Trp	coding	Pathogenic
12	6095449	T	G	T6095449G	VWF	NM_000552.4(VWF):c.657+11A>C	noncoding	Benign
12	6110516	G	A	G6110516A	VWF	NM_000552.4(VWF):c.390C>T:p.Ser130=	coding	Benign/Likely_benign
12	6232684	G	A	G6232684A	CD9	NM_001769.4(CD9):c.228G>A:p.Leu76=	coding	Benign
12	6235220	C	G	C6235220G	CD9	NM_001769.4(CD9):c.349-9C>G	noncoding	Benign
12	6235335	G	A	G6235335A	CD9	NM_001769.4(CD9):c.447+8G>A	noncoding	Benign
12	6328979	C	T	C6328979T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.*333G>A	noncoding	Benign
12	6329605	G	A	G6329605A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.1075C>T:p.Leu359=	coding	Benign
12	6329848	G	A	G6329848A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.987C>T:p.Leu329=	coding	Benign
12	6330019	G	A	G6330019A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.816C>T:p.Ser272=	coding	Benign
12	6330069	G	A	G6330069A	TNFRSF1A	NM_001065.3(TNFRSF1A):c.769-3C>T	noncoding	Benign/Likely_benign
12	6330304	A	G	A6330304G	TNFRSF1A	NM_001065.3(TNFRSF1A):c.740-9T>C	noncoding	Benign
12	6330623	C	T	C6330623T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.714G>A:p.Arg238=	coding	Benign
12	6330743	C	A	C6330743A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.626-32G>T	noncoding	Benign
12	6330843	T	C	T6330843C	TNFRSF1A	NM_001065.4(TNFRSF1A):c.625+10A>G	noncoding	Benign
12	6330882	A	T	A6330882T	TNFRSF1A	NM_001065.3(TNFRSF1A):c.596T>A:p.Ile199Asn	coding	Pathogenic
12	6333376	G	A	G6333376A	TNFRSF1A	NM_001065.3(TNFRSF1A):c.463C>T:p.His155Tyr	coding	Pathogenic
12	6333477	C	G	C6333477G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.362G>C:p.Arg121Pro	coding	Pathogenic
12	6333489	C	T	C6333489T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.350G>A:p.Cys117Tyr	coding	Pathogenic
12	6333490	A	G	A6333490G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.349T>C:p.Cys117Arg	coding	Pathogenic
12	6333500	C	T	C6333500T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.339G>A:p.Glu113=	coding	Benign
12	6333764	A	G	A6333764G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.295T>C:p.Cys99Arg	coding	Pathogenic
12	6333764	A	T	A6333764T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.295T>A:p.Cys99Ser	coding	Pathogenic
12	6333808	C	T	C6333808T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.251G>A:p.Cys84Tyr	coding	Pathogenic
12	6333817	C	A	C6333817A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.242G>T:p.Cys81Phe	coding	Pathogenic
12	6333823	G	A	G6333823A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.236C>T:p.Thr79Met	coding	Pathogenic
12	6333835	G	A	G6333835A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.224C>T:p.Pro75Leu	coding	Benign/Likely_benign
12	6334099	C	T	C6334099T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.185G>A:p.Cys62Tyr	coding	Pathogenic
12	6334108	C	G	C6334108G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.176G>C:p.Cys59Ser	coding	Pathogenic
12	6334109	A	G	A6334109G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.175T>C:p.Cys59Arg	coding	Pathogenic
12	6334161	A	C	A6334161C	TNFRSF1A	NM_001065.4(TNFRSF1A):c.123T>G:p.Asp41Glu	coding	Pathogenic/Likely_pathogenic
12	6334253	G	T	G6334253T	TNFRSF1A	NM_001065.3(TNFRSF1A):c.40-9C>A	noncoding	Benign
12	6334549	G	A	G6334549A	TNFRSF1A	NM_001065.3(TNFRSF1A):c.40-305C>T	noncoding	Benign
12	6341473	T	C	T6341473C	TNFRSF1A	NM_001065.3(TNFRSF1A):c.39+303A>G	noncoding	Benign
12	6341779	T	C	T6341779C	TNFRSF1A	NM_001065.4(TNFRSF1A):c.36A>G:p.Pro12=	coding	Benign
12	6342197	T	G	T6342197G	TNFRSF1A	NM_001065.3(TNFRSF1A):c.-383A>C	noncoding	Benign
12	6342395	T	C	T6342395C	TNFRSF1A	NM_001065.3(TNFRSF1A):c.-581A>G	noncoding	Benign
12	6342424	A	C	A6342424C	TNFRSF1A	NM_001065.3(TNFRSF1A):c.-610T>G	noncoding	Benign
12	6346953	G	A	G6346953A	SCNN1A	NM_001038.6(SCNN1A):c.*920C>T	noncoding	Benign/Likely_benign
12	6347240	C	A	C6347240A	SCNN1A	NM_001038.6(SCNN1A):c.*633G>T	noncoding	Benign/Likely_benign
12	6347364	A	C	A6347364C	SCNN1A	NM_001038.6(SCNN1A):c.*509T>G	noncoding	Benign/Likely_benign
12	6347803	A	G	A6347803G	SCNN1A	NM_001038.6(SCNN1A):c.*70T>C	noncoding	Benign
12	6347896	T	C	T6347896C	SCNN1A	NM_001038.6(SCNN1A):c.1987A>G:p.Thr663Ala	coding	Benign
12	6348030	C	A	C6348030A	SCNN1A	NM_001038.6(SCNN1A):c.1853G>T:p.Cys618Phe	coding	Benign
12	6348166	C	T	C6348166T	SCNN1A	NM_001038.6(SCNN1A):c.1717G>A:p.Val573Ile	coding	Benign/Likely_benign
12	6348198	G	A	G6348198A	SCNN1A	NM_001038.6(SCNN1A):c.1685C>T:p.Ser562Leu	coding	Pathogenic
12	6348981	G	A	G6348981A	SCNN1A	NM_001038.6(SCNN1A):c.1522C>T:p.Arg508Ter	coding	Pathogenic
12	6349184	A	G	A6349184G	SCNN1A	NM_001038.6(SCNN1A):c.1477T>C:p.Trp493Arg	coding	Benign/Likely_benign
12	6349326	C	T	C6349326T	SCNN1A	NM_001038.6(SCNN1A):c.1439+1G>A	noncoding	Pathogenic
12	6349331	A	G	A6349331G	SCNN1A	NM_001038.6(SCNN1A):c.1435T>C:p.Cys479Arg	coding	Pathogenic
12	6355415	C	T	C6355415T	SCNN1A	NM_001038.6(SCNN1A):c.1000G>A:p.Ala334Thr	coding	Benign
12	6355778	G	A	G6355778A	SCNN1A	NM_001038.6(SCNN1A):c.978C>T:p.Asn326=	coding	Benign
12	6362050	C	T	C6362050T	SCNN1A	NM_001038.6(SCNN1A):c.875+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	6363434	G	A	G6363434A	SCNN1A	NM_001038.6(SCNN1A):c.684+9C>T	noncoding	Benign
12	6363586	G	A	G6363586A	SCNN1A	NM_001038.6(SCNN1A):c.541C>T:p.Arg181Trp	coding	Benign/Likely_benign
12	6363587	C	A	C6363587A	SCNN1A	NM_001038.6(SCNN1A):c.540G>T:p.Leu180=	coding	Benign
12	6374444	C	T	C6374444T	SCNN1A	NM_001038.6(SCNN1A):c.340G>A:p.Val114Ile	coding	Pathogenic
12	6374543	G	A	G6374543A	SCNN1A	NM_001038.6(SCNN1A):c.241C>T:p.Arg81Cys	coding	Pathogenic
12	6374685	G	A	G6374685A	SCNN1A	NM_001038.6(SCNN1A):c.99C>T:p.Pro33=	coding	Benign
12	6374811	A	G	A6374811G	SCNN1A	NM_001038.6(SCNN1A):c.-28T>C	coding	Benign
12	6374831	T	C	T6374831C	SCNN1A	NM_001038.6(SCNN1A):c.-48A>G	coding	Benign
12	6375500	C	G	C6375500G	SCNN1A	NM_001038.6(SCNN1A):c.-55+5G>C	coding	Benign
12	6375519	G	A	G6375519A	SCNN1A	NM_001038.6(SCNN1A):c.-69C>T	coding	Benign/Likely_benign
12	6375543	T	C	T6375543C	SCNN1A	NM_001038.6(SCNN1A):c.-93A>G	coding	Benign
12	6384579	C	T	C6384579T	LTBR	NM_002342.3(LTBR):c.97-9C>T	noncoding	Benign
12	6384647	G	A	G6384647A	LTBR	NM_002342.3(LTBR):c.156G>A:p.Glu52=	coding	Benign
12	6385074	A	G	A6385074G	LTBR	NM_002342.3(LTBR):c.246A>G:p.Thr82=	coding	Benign
12	6385291	G	A	G6385291A	LTBR	NM_002342.3(LTBR):c.384G>A:p.Pro128=	coding	Benign
12	6385344	C	T	C6385344T	LTBR	NM_002342.3(LTBR):c.437C>T:p.Ser146Phe	coding	Benign
12	6386133	C	T	C6386133T	LTBR	NM_002342.3(LTBR):c.540C>T:p.Ser180=	coding	Benign
12	6388415	G	T	G6388415T	LTBR	NM_002342.3(LTBR):c.685G>T:p.Ala229Ser	coding	Benign
12	6390130	G	A	G6390130A	LTBR	NM_002342.3(LTBR):c.820G>A:p.Val274Ile	coding	Benign
12	6390219	A	G	A6390219G	LTBR	NM_002342.3(LTBR):c.909A>G:p.Pro303=	coding	Benign
12	6445119	G	A	G6445119A	CD27	NM_001242.4(CD27):c.24G>A:p.Trp8Ter	coding	Pathogenic
12	6445125	C	T	C6445125T	CD27	NM_001242.4(CD27):c.30C>T:p.Cys10=	coding	Benign
12	6445445	G	A	G6445445A	CD27	NM_001242.4(CD27):c.158G>A:p.Cys53Tyr	coding	Pathogenic
12	6450164	T	C	T6450164C	CD27	NM_001242.4(CD27):c.269-9T>C	noncoding	Benign
12	6450889	T	C	T6450889C	CD27	NM_001242.4(CD27):c.539-6T>C	coding	Benign
12	6450897	C	T	C6450897T	CD27	NM_001242.4(CD27):c.541C>T:p.Gln181Ter	coding	Pathogenic
12	6451307	A	G	A6451307G	CD27	NM_001242.5(CD27):c.698A>G:p.His233Arg	coding	Benign
12	6451407	G	T	G6451407T	CD27	NM_001242.5(CD27):c.*15G>T	noncoding	Benign
12	6462840	G	A	G6462840A	VAMP1	NM_199245.3(VAMP1):c.*2036C>T	coding	Benign
12	6464888	A	C	A6464888C	VAMP1	NM_199245.3(VAMP1):c.342T>G:p.Ser114Arg	coding	Pathogenic
12	6465984	C	G	C6465984G	VAMP1	NM_014231.5(VAMP1):c.146G>C:p.Arg49Pro	coding	Pathogenic
12	6466224	C	T	C6466224T	VAMP1	NM_014231.5(VAMP1):c.129+1G>A	noncoding	Pathogenic
12	6510732	T	C	T6510732C	NCAPD2	NM_014865.4(NCAPD2):c.366T>C:p.Tyr122=	coding	Benign
12	6517033	A	G	A6517033G	NCAPD2	NM_014865.4(NCAPD2):c.1185+8A>G	noncoding	Benign
12	6517457	G	A	G6517457A	NCAPD2	NM_014865.4(NCAPD2):c.1278G>A:p.Gln426=	coding	Benign
12	6529593	G	T	G6529593T	NCAPD2	NM_014865.4(NCAPD2):c.3653G>T:p.Arg1218Leu	coding	Benign
12	6529949	T	G	T6529949G	NCAPD2	NM_014865.4(NCAPD2):c.3828T>G:p.Pro1276=	coding	Benign
12	6531078	T	C	T6531078C	NCAPD2	NM_014865.4(NCAPD2):c.4120+2T>C	noncoding	Pathogenic
12	6531353	G	A	G6531353A	NCAPD2	NM_014865.4(NCAPD2):c.4147G>A:p.Glu1383Lys	coding	Benign
12	6557330	C	T	C6557330T	NOP2	NM_001258308.2(NOP2):c.2102G>A:p.Arg701Gln	coding	Benign
12	6560439	G	A	G6560439A	NOP2	NM_001258308.2(NOP2):c.1560+8C>T	noncoding	Benign
12	6563404	G	A	G6563404A	NOP2	NM_001258308.2(NOP2):c.799C>T:p.Leu267=	coding	Benign
12	6563762	C	G	C6563762G	NOP2	NM_001258308.2(NOP2):c.540G>C:p.Trp180Cys	coding	Benign
12	6566103	C	T	C6566103T	NOP2	NM_001258308.2(NOP2):c.472G>A:p.Ala158Thr	coding	Benign
12	6566156	G	A	G6566156A	NOP2	NM_001258308.2(NOP2):c.419C>T:p.Thr140Met	coding	Benign
12	6573102	G	A	G6573102A	CHD4	NM_001273.5(CHD4):c.5529C>T:p.Asn1843=	coding	Benign
12	6573177	G	C	G6573177C	CHD4	NM_001273.5(CHD4):c.5454C>G:p.Leu1818=	coding	Benign
12	6577854	A	G	A6577854G	CHD4	NM_001273.5(CHD4):c.5292T>C:p.Pro1764=	coding	Benign
12	6578040	G	A	G6578040A	CHD4	NM_001273.5(CHD4):c.5217C>T:p.Ala1739=	coding	Benign
12	6578079	A	G	A6578079G	CHD4	NM_001273.5(CHD4):c.5178T>C:p.Tyr1726=	coding	Benign
12	6578884	G	A	G6578884A	CHD4	NM_001273.5(CHD4):c.4943C>T:p.Ser1648Leu	coding	Benign
12	6582662	G	A	G6582662A	CHD4	NM_001273.5(CHD4):c.4323C>T:p.Thr1441=	coding	Benign
12	6582923	G	A	G6582923A	CHD4	NM_001273.5(CHD4):c.4161C>T:p.Pro1387=	coding	Benign
12	6587897	C	A	C6587897A	CHD4	NM_001273.5(CHD4):c.3518G>T:p.Arg1173Leu	coding	Pathogenic
12	6587897	C	T	C6587897T	CHD4	NM_001273.5(CHD4):c.3518G>A:p.Arg1173Gln	coding	Pathogenic
12	6587955	G	A	G6587955A	CHD4	NM_001273.5(CHD4):c.3466-6C>T	noncoding	Benign
12	6588320	C	A	C6588320A	CHD4	NM_001273.5(CHD4):c.3443G>T:p.Trp1148Leu	coding	Pathogenic
12	6588383	C	T	C6588383T	CHD4	NM_001273.5(CHD4):c.3380G>A:p.Arg1127Gln	coding	Pathogenic
12	6591713	C	T	C6591713T	CHD4	NM_001273.5(CHD4):c.3203G>A:p.Arg1068His	coding	Pathogenic
12	6591833	C	A	C6591833A	CHD4	NM_001273.5(CHD4):c.3091-8G>T	noncoding	Benign
12	6591919	T	C	T6591919C	CHD4	NM_001273.5(CHD4):c.3087A>G:p.Ala1029=	coding	Benign
12	6592479	C	T	C6592479T	CHD4	NM_001273.5(CHD4):c.2862G>A:p.Met954Ile	coding	Pathogenic
12	6592736	A	G	A6592736G	CHD4	NM_001273.5(CHD4):c.2734T>C:p.Leu912=	coding	Benign
12	6593133	G	A	G6593133A	CHD4	NM_001273.5(CHD4):c.2610C>T:p.Leu870=	coding	Benign
12	6593191	G	T	G6593191T	CHD4	NM_001273.5(CHD4):c.2552C>A:p.Ser851Tyr	coding	Pathogenic
12	6593223	C	T	C6593223T	CHD4	NM_001273.5(CHD4):c.2520G>A:p.Glu840=	coding	Benign
12	6594534	G	A	G6594534A	CHD4	NM_001273.5(CHD4):c.2238C>T:p.Asp746=	coding	Benign
12	6596038	G	A	G6596038A	CHD4	NM_001273.5(CHD4):c.1992C>T:p.Tyr664=	coding	Benign
12	6596083	G	A	G6596083A	CHD4	NM_001273.5(CHD4):c.1947C>T:p.Tyr649=	coding	Benign
12	6598213	T	C	T6598213C	CHD4	NM_001273.5(CHD4):c.1686+9A>G	noncoding	Benign
12	6598219	T	C	T6598219C	CHD4	NM_001273.5(CHD4):c.1686+3A>G	noncoding	Benign
12	6600250	C	T	C6600250T	CHD4	NM_001273.5(CHD4):c.1209G>A:p.Lys403=	coding	Benign
12	6601401	C	T	C6601401T	CHD4	NM_001273.5(CHD4):c.687G>A:p.Ala229=	coding	Benign
12	6601455	C	T	C6601455T	CHD4	NM_001273.5(CHD4):c.633G>A:p.Glu211=	coding	Benign
12	6601978	A	C	A6601978C	CHD4	NM_001273.5(CHD4):c.420T>G:p.Asp140Glu	coding	Benign
12	6602502	A	T	A6602502T	CHD4	NM_001273.5(CHD4):c.101-5T>A	noncoding	Benign
12	6772917	C	T	C6772917T	LAG3	NM_002286.6(LAG3):c.58+7C>T	noncoding	Benign
12	6775419	A	T	A6775419T	LAG3	NM_002286.6(LAG3):c.928A>T:p.Thr310Ser	coding	Benign
12	6778280	A	T	A6778280T	LAG3	NM_002286.6(LAG3):c.1468A>T:p.Ile490Phe	coding	Benign
12	6814296	C	T	C6814296T	CD4	NM_000616.5(CD4):c.369C>T:p.Phe123=	coding	Benign
12	6814956	A	G	A6814956G	CD4	NM_000616.5(CD4):c.571A>G:p.Lys191Glu	coding	Benign
12	6816128	T	C	T6816128C	CD4	NM_000616.5(CD4):c.680T>C:p.Phe227Ser	coding	Benign
12	6816147	G	T	G6816147T	CD4	NM_000616.5(CD4):c.699G>T:p.Thr233=	coding	Benign
12	6816159	G	A	G6816159A	CD4	NM_000616.5(CD4):c.711G>A:p.Glu237=	coding	Benign
12	6818860	G	A	G6818860A	CD4	NM_000616.5(CD4):c.1292G>A:p.Arg431Gln	coding	Benign
12	6819320	C	T	C6819320T	CD4	NM_000616.5(CD4):c.1368C>T:p.Ser456=	coding	Benign
12	6827132	T	G	T6827132G	GPR162	NM_019858.2(GPR162):c.1695T>G:p.Gly565=	coding	Benign
12	6841609	C	T	C6841609T	GNB3	NM_002075.4(GNB3):c.81C>T:p.Asp27=	coding	Benign
12	6843073	C	T	C6843073T	GNB3	NM_002075.4(GNB3):c.200C>T:p.Ser67Phe	coding	Pathogenic
12	6843496	A	G	A6843496G	GNB3	NM_002075.4(GNB3):c.401A>G:p.Lys134Arg	coding	Benign
12	6843936	T	A	T6843936A	GNB3	NM_002075.4(GNB3):c.657T>A:p.Arg219=	coding	Benign
12	6845460	G	A	G6845460A	GNB3	NM_002075.4(GNB3):c.700-126G>A	noncoding	Benign
12	6845615	G	A	G6845615A	GNB3	NM_002075.4(GNB3):c.729G>A:p.Thr243=	coding	Benign
12	6846892	G	A	G6846892A	GNB3	NM_002075.4(GNB3):c.1017G>A:p.Trp339Ter	coding	Pathogenic
12	6852233	C	T	C6852233T	USP5	NM_001098536.2(USP5):c.54C>T:p.Val18=	coding	Benign
12	6855778	C	T	C6855778T	USP5	NM_001098536.2(USP5):c.261C>T:p.Gly87=	coding	Benign
12	6860158	C	T	C6860158T	USP5	NM_001098536.2(USP5):c.1138C>T:p.Leu380=	coding	Benign
12	6861073	C	T	C6861073T	USP5	NM_001098536.2(USP5):c.1465C>T:p.Leu489=	coding	Benign
12	6863250	C	T	C6863250T	USP5	NM_001098536.2(USP5):c.1827C>T:p.Pro609=	coding	Benign
12	6867524	A	G	A6867524G	TPI1	NM_001159287.1(TPI1):c.69A>G:p.Arg23=	coding	Benign
12	6868873	G	A	G6868873A	TPI1	NM_000365.6(TPI1):c.125G>A:p.Cys42Tyr	coding	Pathogenic
12	6869174	G	C	G6869174C	TPI1	NM_000365.6(TPI1):c.315G>C:p.Glu105Asp	coding	Pathogenic
12	6869180	T	C	T6869180C	TPI1	NM_000365.6(TPI1):c.321T>C:p.Asp107=	coding	Benign
12	6869300	G	A	G6869300A	TPI1	NM_000365.6(TPI1):c.367G>A:p.Gly123Arg	coding	Pathogenic
12	6869369	G	T	G6869369T	TPI1	NM_000365.6(TPI1):c.436G>T:p.Glu146Ter	coding	Pathogenic
12	6869741	A	G	A6869741G	TPI1	NM_000365.6(TPI1):c.511A>G:p.Ile171Val	coding	Pathogenic
12	6870035	G	A	G6870035A	TPI1	NM_000365.6(TPI1):c.544-14G>A	noncoding	Benign
12	6870039	C	G	C6870039G	TPI1	NM_000365.6(TPI1):c.544-10C>G	noncoding	Benign
12	6870074	G	A	G6870074A	TPI1	NM_000365.6(TPI1):c.569G>A:p.Arg190Gln	coding	Pathogenic
12	6870105	G	A	G6870105A	TPI1	NM_000365.6(TPI1):c.600G>A:p.Ala200=	coding	Benign
12	6870149	G	A	G6870149A	TPI1	NM_000365.6(TPI1):c.631+13G>A	noncoding	Benign
12	6870354	T	C	T6870354C	TPI1	NM_000365.6(TPI1):c.721T>C:p.Phe241Leu	coding	Pathogenic
12	6870355	T	C	T6870355C	TPI1	NM_000365.6(TPI1):c.722T>C:p.Phe241Ser	coding	Pathogenic
12	6870422	G	A	G6870422A	TPI1	NM_000365.6(TPI1):c.*39G>A	noncoding	Benign
12	6870724	C	T	C6870724T	TPI1	NM_000365.6(TPI1):c.*341C>T	noncoding	Benign
12	6870771	C	T	C6870771T	TPI1	NM_000365.6(TPI1):c.*388C>T	noncoding	Benign
12	6870803	T	C	T6870803C	TPI1	NM_000365.6(TPI1):c.*420T>C	noncoding	Benign
12	6917572	A	C	A6917572C	ENO2	NM_001975.3(ENO2):c.311-9A>C	noncoding	Benign
12	6939123	C	A	C6939123A	ATN1	NM_001940.4(ATN1):c.3160C>A:p.His1054Asn	coding	Pathogenic
12	6939135	C	T	C6939135T	ATN1	NM_001940.4(ATN1):c.3172C>T:p.His1058Tyr	coding	Pathogenic
12	6939148	A	G	A6939148G	ATN1	NM_001940.4(ATN1):c.3185A>G:p.His1062Arg	coding	Pathogenic/Likely_pathogenic
12	6939151	T	G	T6939151G	ATN1	NM_001940.4(ATN1):c.3188T>G:p.Leu1063Arg	coding	Pathogenic
12	6944122	A	G	A6944122G	C12orf57	NM_138425.4(C12orf57):c.1A>G:p.Met1Val	coding	Pathogenic
12	6944151	C	T	C6944151T	C12orf57	NM_138425.4(C12orf57):c.30C>T:p.Ala10=	coding	Benign/Likely_benign
12	6944164	C	T	C6944164T	C12orf57	NM_138425.4(C12orf57):c.43C>T:p.Gln15Ter	coding	Pathogenic
12	6944474	A	G	A6944474G	C12orf57	NM_138425.4(C12orf57):c.53-2A>G	coding	Pathogenic
12	6944575	T	A	T6944575A	C12orf57	NM_138425.4(C12orf57):c.152T>A:p.Leu51Gln	coding	Pathogenic
12	6945838	A	G	A6945838G	C12orf57	NM_138425.4(C12orf57):c.297A>G:p.Ser99=	coding	Benign
12	6951726	C	T	C6951726T	PTPN6	NM_002831.6(PTPN6):c.126C>T:p.Ser42=	coding	Benign
12	6957662	C	T	C6957662T	PTPN6	NM_002831.6(PTPN6):c.1083C>T:p.Cys361=	coding	Benign
12	6957776	G	A	G6957776A	PTPN6	NM_002831.6(PTPN6):c.1197G>A:p.Pro399=	coding	Benign
12	6957911	C	T	C6957911T	PTPN6	NM_002831.6(PTPN6):c.1207-8C>T	noncoding	Benign
12	6959963	C	T	C6959963T	PTPN6	NM_002831.6(PTPN6):c.1398C>T:p.Ile466=	coding	Benign
12	6960179	C	T	C6960179T	PTPN6	NM_002831.6(PTPN6):c.1521C>T:p.Phe507=	coding	Benign
12	6960334	C	G	C6960334G	PTPN6	NM_002831.6(PTPN6):c.1582-10C>G	noncoding	Benign
12	6960696	G	A	G6960696A	PTPN6	NM_002831.6(PTPN6):c.1674-110G>A	coding	Benign
12	6965706	G	A	G6965706A	PHB2	NM_001144831.2(PHB2):c.879C>T:p.Ser293=	coding	Benign
12	6966468	T	C	T6966468C	PHB2	NM_001144831.2(PHB2):c.822A>G:p.Thr274=	coding	Benign
12	6970938	T	C	T6970938C	EMG1	NM_006331.8(EMG1):c.15T>C:p.Ser5=	coding	Benign
12	6970961	G	T	G6970961T	EMG1	NM_006331.8(EMG1):c.38G>T:p.Arg13Leu	coding	Benign/Likely_benign
12	6971024	C	G	C6971024G	EMG1	NM_006331.8(EMG1):c.101C>G:p.Ala34Gly	coding	Benign
12	6974427	A	G	A6974427G	EMG1	NM_006331.8(EMG1):c.257A>G:p.Asp86Gly	coding	Pathogenic
12	6975270	T	C	T6975270C	EMG1	NM_006331.8(EMG1):c.513T>C:p.Cys171=	coding	Benign
12	6975333	C	T	C6975333T	EMG1	NM_006331.8(EMG1):c.576C>T:p.Ser192=	coding	Benign
12	6981860	G	A	G6981860A	LPCAT3	NM_005768.6(LPCAT3):c.411C>T:p.Tyr137=	coding	Benign
12	6981910	A	G	A6981910G	LPCAT3	NM_005768.6(LPCAT3):c.367-6T>C	noncoding	Benign
12	7064316	C	T	C7064316T	C1S	NM_001734.5(C1S):c.441C>T:p.Cys147=	coding	Benign
12	7065812	T	G	T7065812G	C1S	NM_001734.5(C1S):c.718-5T>G	noncoding	Benign
12	7065861	A	T	A7065861T	C1S	NM_001734.5(C1S):c.762A>T:p.Gly254=	coding	Benign
12	7066526	T	C	T7066526C	C1S	NM_001734.5(C1S):c.880T>C:p.Cys294Arg	coding	Pathogenic
12	7066566	C	T	C7066566T	C1S	NM_001734.5(C1S):c.920C>T:p.Ala307Val	coding	Benign
12	7066580	G	A	G7066580A	C1S	NM_001734.5(C1S):c.934G>A:p.Val312Ile	coding	Benign
12	7067127	T	C	T7067127C	C1S	NM_001734.5(C1S):c.1066+10T>C	noncoding	Benign
12	7067635	T	G	T7067635G	C1S	NM_001734.5(C1S):c.1067-8T>G	noncoding	Benign
12	7067724	G	A	G7067724A	C1S	NM_001734.5(C1S):c.1148G>A:p.Arg383His	coding	Benign
12	7067743	A	G	A7067743G	C1S	NM_001734.5(C1S):c.1167A>G:p.Pro389=	coding	Benign
12	7068478	C	T	C7068478T	C1S	NM_001734.5(C1S):c.1218C>T:p.Asn406=	coding	Benign/Likely_benign
12	7069910	C	T	C7069910T	C1S	NM_001734.5(C1S):c.1326C>T:p.Ser442=	coding	Benign
12	7082077	A	G	A7082077G	C1R	NM_001733.7(C1R):c.1303T>C:p.Trp435Arg	coding	Pathogenic
12	7086383	G	C	G7086383C	C1R	NM_001733.7(C1R):c.1113C>G:p.Cys371Trp	coding	Pathogenic
12	7086404	C	G	C7086404G	C1R	NM_001733.7(C1R):c.1092G>C:p.Trp364Cys	coding	Pathogenic
12	7086423	C	A	C7086423A	C1R	NM_001733.7(C1R):c.1073G>T:p.Cys358Phe	coding	Pathogenic
12	7088636	A	G	A7088636G	C1R	NM_001733.7(C1R):c.1012T>C:p.Cys338Arg	coding	Pathogenic
12	7088721	G	C	G7088721C	C1R	NM_001733.7(C1R):c.927C>G:p.Cys309Trp	coding	Pathogenic
12	7088850	T	C	T7088850C	C1R	NM_001733.7(C1R):c.905A>G:p.Tyr302Cys	coding	Pathogenic
12	7088853	C	G	C7088853G	C1R	NM_001733.7(C1R):c.902G>C:p.Arg301Pro	coding	Pathogenic
12	7088856	A	G	A7088856G	C1R	NM_001733.7(C1R):c.899T>C:p.Leu300Pro	coding	Pathogenic
12	7088865	C	T	C7088865T	C1R	NM_001733.7(C1R):c.890G>A:p.Gly297Asp	coding	Pathogenic
12	7088886	T	C	T7088886C	C1R	NM_001733.7(C1R):c.869A>G:p.Asp290Gly	coding	Pathogenic
12	7189747	C	G	C7189747G	PEX5	NM_001131025.1(PEX5):c.-486C>G	noncoding	Benign
12	7190040	T	A	T7190040A	PEX5	NM_001131025.1(PEX5):c.-193T>A	coding	Benign
12	7191610	C	T	C7191610T	PEX5	NM_001351132.2(PEX5):c.358C>T:p.Gln120Ter	coding	Pathogenic
12	7191613	G	T	G7191613T	PEX5	NM_001131025.1(PEX5):c.361G>T:p.Glu121Ter	coding	Pathogenic/Likely_pathogenic
12	7199009	A	G	A7199009G	PEX5	NM_000319.4(PEX5):c.449-2A>G	noncoding	Pathogenic
12	7199136	G	A	G7199136A	PEX5	NM_001131023.1(PEX5):c.596+23G>A	noncoding	Benign
12	7201750	G	A	G7201750A	PEX5	NM_001131025.1(PEX5):c.552-1G>A	noncoding	Pathogenic
12	7202256	C	T	C7202256T	PEX5	NM_001351132.2(PEX5):c.658C>T:p.Arg220Trp	coding	Benign
12	7202307	C	T	C7202307T	PEX5	NM_001351132.2(PEX5):c.709C>T:p.Arg237Ter	coding	Pathogenic
12	7202673	T	C	T7202673C	PEX5	NM_001131023.1(PEX5):c.860T>C:p.Met287Thr	coding	Benign
12	7202731	C	A	C7202731A	PEX5	NM_001131023.1(PEX5):c.891+27C>A	noncoding	Benign
12	7207633	C	G	C7207633G	PEX5	NM_001131023.1(PEX5):c.1012-26C>G	noncoding	Benign
12	7207690	G	A	G7207690A	PEX5	NM_001351132.2(PEX5):c.998G>A:p.Arg333His	coding	Benign
12	7207745	G	A	G7207745A	PEX5	NM_001351132.2(PEX5):c.1053G>A:p.Leu351=	coding	Benign/Likely_benign
12	7208554	C	T	C7208554T	PEX5	NM_001131025.1(PEX5):c.1279C>T:p.Arg427Ter	coding	Pathogenic
12	7209700	T	G	T7209700G	PEX5	NM_001131025.1(PEX5):c.1578T>G:p.Asn526Lys	coding	Pathogenic
12	7209754	G	A	G7209754A	PEX5	NM_001131025.1(PEX5):c.1632G>A:p.Ala544=	coding	Benign
12	7210298	G	A	G7210298A	PEX5	NM_001131025.1(PEX5):c.*75G>A	noncoding	Benign
12	7210364	G	A	G7210364A	PEX5	NM_001131025.1(PEX5):c.*141G>A	noncoding	Benign
12	7210851	G	A	G7210851A	PEX5	NM_001131025.1(PEX5):c.*628G>A	noncoding	Benign
12	7210851	G	C	G7210851C	PEX5	NM_001351132.2(PEX5):c.*628G>C	noncoding	Benign
12	7210978	C	G	C7210978G	PEX5	NM_001131025.1(PEX5):c.*755C>G	noncoding	Benign
12	7211183	C	G	C7211183G	PEX5	NM_001131025.1(PEX5):c.*960C>G	noncoding	Benign
12	7369575	G	T	G7369575T	CD163L1	NM_174941.5(CD163L1):c.3821C>A:p.Ser1274Tyr	coding	Benign
12	7479937	G	T	G7479937T	CD163	NM_004244.5(CD163):c.3403C>A:p.Leu1135Ile	coding	Benign
12	7483431	A	G	A7483431G	CD163	NM_004244.5(CD163):c.3024T>C:p.Cys1008=	coding	Benign
12	7485112	G	A	G7485112A	CD163	NM_004244.5(CD163):c.2763C>T:p.Thr921=	coding	Benign
12	7485199	A	G	A7485199G	CD163	NM_004244.5(CD163):c.2676T>C:p.Asn892=	coding	Benign
12	7485276	G	A	G7485276A	CD163	NM_004244.5(CD163):c.2599C>T:p.Leu867=	coding	Benign
12	7487483	A	T	A7487483T	CD163	NM_004244.5(CD163):c.1926T>A:p.Asn642Lys	coding	Benign
12	7487799	C	T	C7487799T	CD163	NM_004244.5(CD163):c.1709G>A:p.Ser570Asn	coding	Benign
12	7501130	A	T	A7501130T	CD163	NM_004244.5(CD163):c.457+9T>A	noncoding	Benign
12	7501374	C	T	C7501374T	CD163	NM_004244.5(CD163):c.222G>A:p.Thr74=	coding	Benign
12	7689991	C	G	C7689991G	GDF3	NM_020634.3(GDF3):c.982G>C:p.Val328Leu	coding	Benign
12	7690153	G	A	G7690153A	GDF3	NM_020634.3(GDF3):c.820C>T:p.Arg274Trp	coding	Pathogenic
12	7690389	C	T	C7690389T	GDF3	NM_020634.3(GDF3):c.584G>A:p.Arg195Gln	coding	Pathogenic
12	7690390	G	A	G7690390A	GDF3	NM_020634.3(GDF3):c.583C>T:p.Arg195Trp	coding	Benign
12	7690667	G	A	G7690667A	GDF3	NM_020634.3(GDF3):c.306C>T:p.Ser102=	coding	Benign
12	7695555	G	A	G7695555A	GDF3	NM_020634.3(GDF3):c.174C>T:p.Arg58=	coding	Benign
12	7737444	G	T	G7737444T	CLEC4C	NM_130441.3(CLEC4C):c.366C>A:p.Asn122Lys	coding	Benign
12	7741484	A	C	A7741484C	CLEC4C	NM_001371390.1(CLEC4C):c.172T>G:p.Leu58Val	coding	Benign
12	7922827	G	A	G7922827A	SLC2A3	NM_006931.3(SLC2A3):c.1266C>T:p.Ser422=	coding	Benign
12	7924406	C	T	C7924406T	SLC2A3	NM_006931.3(SLC2A3):c.1068+4G>A	noncoding	Benign
12	8059779	A	G	A8059779G	C3AR1	NM_004054.4(C3AR1):c.407T>C:p.Val136Ala	coding	Benign
12	8060046	A	C	A8060046C	C3AR1	NM_004054.4(C3AR1):c.140T>G:p.Val47Gly	coding	Benign
12	8082357	G	A	G8082357A	NECAP1	NM_015509.4(NECAP1):c.69G>A:p.Pro23=	coding	Benign
12	8089982	C	T	C8089982T	NECAP1	NM_015509.4(NECAP1):c.142C>T:p.Arg48Ter	coding	Pathogenic/Likely_pathogenic
12	8090300	G	A	G8090300A	NECAP1	NM_015509.4(NECAP1):c.301+1G>A	coding	Pathogenic
12	8093049	G	A	G8093049A	NECAP1	NM_015509.4(NECAP1):c.670G>A:p.Asp224Asn	coding	Benign
12	8138285	T	C	T8138285C	CLEC4A	NM_016184.3(CLEC4A):c.712T>C:p.Ter238Arg	coding	Benign
12	8222452	G	T	G8222452T	FAM90A1	NM_018088.3(FAM90A1):c.765C>A:p.Ser255Arg	coding	Benign
12	8222456	A	G	A8222456G	FAM90A1	NM_018088.3(FAM90A1):c.761T>C:p.Val254Ala	coding	Benign
12	8222516	G	T	G8222516T	FAM90A1	NM_018088.3(FAM90A1):c.701C>A:p.Ala234Glu	coding	Benign
12	8515301	A	G	A8515301G	CLEC4D	NM_080387.5(CLEC4D):c.94A>G:p.Ser32Gly	coding	Benign
12	8602590	T	C	T8602590C	AICDA	NM_020661.4(AICDA):c.*1694A>G	noncoding	Benign
12	8602618	C	A	C8602618A	AICDA	NM_020661.4(AICDA):c.*1666G>T	noncoding	Benign
12	8602987	C	T	C8602987T	AICDA	NM_020661.4(AICDA):c.*1297G>A	noncoding	Benign
12	8603566	G	T	G8603566T	AICDA	NM_020661.4(AICDA):c.*718C>A	noncoding	Benign
12	8603975	A	G	A8603975G	AICDA	NM_020661.4(AICDA):c.*309T>C	noncoding	Benign
12	8604195	T	G	T8604195G	AICDA	NM_020661.4(AICDA):c.*89A>C	noncoding	Benign
12	8604246	A	G	A8604246G	AICDA	NM_020661.4(AICDA):c.*38T>C	noncoding	Benign
12	8604296	A	G	A8604296G	AICDA	NM_020661.4(AICDA):c.585T>C:p.Thr195=	coding	Benign
12	8604885	G	A	G8604885A	AICDA	NM_020661.4(AICDA):c.465C>T:p.His155=	coding	Benign
12	8604898	A	G	A8604898G	AICDA	NM_020661.4(AICDA):c.452T>C:p.Phe151Ser	coding	Pathogenic
12	8604909	G	T	G8604909T	AICDA	NM_020661.4(AICDA):c.441C>A:p.Cys147Ter	coding	Pathogenic
12	8605226	A	G	A8605226G	AICDA	NM_020661.4(AICDA):c.416T>C:p.Met139Thr	coding	Pathogenic
12	8605227	T	C	T8605227C	AICDA	NM_020661.4(AICDA):c.415A>G:p.Met139Val	coding	Pathogenic
12	8605273	G	A	G8605273A	AICDA	NM_020661.4(AICDA):c.369C>T:p.Pro123=	coding	Benign
12	8605308	G	A	G8605308A	AICDA	NM_020661.4(AICDA):c.334C>T:p.Arg112Cys	coding	Pathogenic
12	8605325	A	G	A8605325G	AICDA	NM_020661.4(AICDA):c.317T>C:p.Leu106Pro	coding	Pathogenic
12	8605375	G	A	G8605375A	AICDA	NM_020661.4(AICDA):c.267C>T:p.Asp89=	coding	Benign
12	8605383	A	G	A8605383G	AICDA	NM_020661.4(AICDA):c.259T>C:p.Cys87Arg	coding	Pathogenic/Likely_pathogenic
12	8605391	C	T	C8605391T	AICDA	NM_020661.4(AICDA):c.251G>A:p.Trp84Ter	coding	Pathogenic/Likely_pathogenic
12	8605404	A	G	A8605404G	AICDA	NM_020661.4(AICDA):c.238T>C:p.Trp80Arg	coding	Pathogenic
12	8605432	T	C	T8605432C	AICDA	NM_020661.4(AICDA):c.210A>G:p.Leu70=	coding	Benign
12	8605439	C	T	C8605439T	AICDA	NM_020661.4(AICDA):c.203G>A:p.Trp68Ter	coding	Pathogenic
12	8606849	C	T	C8606849T	AICDA	NM_020661.4(AICDA):c.156+16G>A	noncoding	Benign
12	8606947	C	T	C8606947T	AICDA	NM_020661.4(AICDA):c.74G>A:p.Arg25His	coding	Benign
12	8606951	G	A	G8606951A	AICDA	NM_020661.4(AICDA):c.70C>T:p.Arg24Trp	coding	Pathogenic
12	8612851	T	C	T8612851C	AICDA	NM_020661.4(AICDA):c.-84A>G	noncoding	Benign
12	8648141	G	A	G8648141A	MFAP5	NM_003480.4(MFAP5):c.472C>T:p.Arg158Ter	coding	Pathogenic
12	8648486	C	A	C8648486A	MFAP5	NM_003480.4(MFAP5):c.410-283G>T	noncoding	Benign
12	8649321	C	A	C8649321A	MFAP5	NM_003480.4(MFAP5):c.409+180G>T	noncoding	Benign
12	8649583	G	A	G8649583A	MFAP5	NM_003480.4(MFAP5):c.336-9C>T	noncoding	Benign/Likely_benign
12	8655410	T	C	T8655410C	MFAP5	NM_003480.4(MFAP5):c.172+5A>G	noncoding	Benign
12	8655626	C	T	C8655626T	MFAP5	NM_003480.4(MFAP5):c.139+160G>A	noncoding	Benign
12	8660694	A	G	A8660694G	MFAP5	NM_003480.4(MFAP5):c.94+169T>C	noncoding	Benign
12	8660895	C	A	C8660895A	MFAP5	NM_003480.4(MFAP5):c.62G>T:p.Trp21Leu	coding	Pathogenic
12	8660902	T	A	T8660902A	MFAP5	NM_003480.4(MFAP5):c.59-4A>T	noncoding	Benign
12	8660999	T	A	T8660999A	MFAP5	NM_003480.4(MFAP5):c.59-101A>T	noncoding	Benign
12	8662099	C	T	C8662099T	MFAP5	NM_003480.4(MFAP5):c.6G>A:p.Ser2=	coding	Benign/Likely_benign
12	8822219	T	C	T8822219C	A2ML1	NM_144670.5(A2ML1):c.-433T>C	noncoding	Benign
12	8822610	T	A	T8822610A	A2ML1	NM_144670.5(A2ML1):c.-42T>A	noncoding	Benign
12	8822660	T	A	T8822660A	A2ML1	NM_144670.6(A2ML1):c.9T>A:p.Ala3=	coding	Benign
12	8823009	A	G	A8823009G	A2ML1	NM_144670.6(A2ML1):c.63-173A>G	noncoding	Benign
12	8823277	C	G	C8823277G	A2ML1	NM_144670.6(A2ML1):c.158C>G:p.Thr53Arg	coding	Benign/Likely_benign
12	8823305	C	T	C8823305T	A2ML1	NM_144670.6(A2ML1):c.186C>T:p.Thr62=	coding	Benign
12	8823315	C	T	C8823315T	A2ML1	NM_144670.6(A2ML1):c.196C>T:p.Leu66=	coding	Benign
12	8823319	A	T	A8823319T	A2ML1	NM_144670.6(A2ML1):c.200A>T:p.Glu67Val	coding	Benign
12	8823762	C	G	C8823762G	A2ML1	NM_144670.6(A2ML1):c.289C>G:p.Arg97Gly	coding	Benign/Likely_benign
12	8823830	G	C	G8823830C	A2ML1	NM_144670.6(A2ML1):c.357G>C:p.Gly119=	coding	Benign
12	8824168	A	G	A8824168G	A2ML1	NM_144670.6(A2ML1):c.409+286A>G	noncoding	Benign
12	8824184	T	C	T8824184C	A2ML1	NM_144670.6(A2ML1):c.409+302T>C	noncoding	Benign
12	8829797	G	A	G8829797A	A2ML1	NM_144670.6(A2ML1):c.462+18G>A	noncoding	Benign
12	8829981	A	C	A8829981C	A2ML1	NM_144670.6(A2ML1):c.462+202A>C	noncoding	Benign
12	8834653	C	G	C8834653G	A2ML1	NM_144670.6(A2ML1):c.463-9C>G	noncoding	Benign
12	8834689	G	A	G8834689A	A2ML1	NM_144670.6(A2ML1):c.483+7G>A	noncoding	Benign
12	8834954	T	C	T8834954C	A2ML1	NM_144670.6(A2ML1):c.483+272T>C	noncoding	Benign
12	8835613	C	T	C8835613T	A2ML1	NM_144670.6(A2ML1):c.590C>T:p.Thr197Ile	coding	Benign
12	8835642	G	C	G8835642C	A2ML1	NM_144670.6(A2ML1):c.619G>C:p.Gly207Arg	coding	Benign
12	8835644	T	C	T8835644C	A2ML1	NM_144670.6(A2ML1):c.621T>C:p.Gly207=	coding	Benign
12	8835656	G	A	G8835656A	A2ML1	NM_144670.6(A2ML1):c.633G>A:p.Val211=	coding	Benign
12	8836181	A	G	A8836181G	A2ML1	NM_144670.6(A2ML1):c.644-74A>G	noncoding	Benign
12	8836292	G	A	G8836292A	A2ML1	NM_144670.6(A2ML1):c.681G>A:p.Lys227=	coding	Benign
12	8836352	G	A	G8836352A	A2ML1	NM_144670.6(A2ML1):c.728+13G>A	noncoding	Benign
12	8837320	A	G	A8837320G	A2ML1	NM_144670.6(A2ML1):c.729-120A>G	noncoding	Benign
12	8838217	A	G	A8838217G	A2ML1	NM_144670.6(A2ML1):c.856-119A>G	noncoding	Benign
12	8838341	C	A	C8838341A	A2ML1	NM_144670.6(A2ML1):c.861C>A:p.Asp287Glu	coding	Benign
12	8838343	A	G	A8838343G	A2ML1	NM_144670.6(A2ML1):c.863A>G:p.Lys288Arg	coding	Benign
12	8838831	C	T	C8838831T	A2ML1	NM_144670.6(A2ML1):c.971-282C>T	noncoding	Benign
12	8839192	T	C	T8839192C	A2ML1	NM_144670.6(A2ML1):c.1050T>C:p.Phe350=	coding	Benign
12	8839374	G	A	G8839374A	A2ML1	NM_144670.6(A2ML1):c.1080+152G>A	noncoding	Benign
12	8839402	C	A	C8839402A	A2ML1	NM_144670.6(A2ML1):c.1080+180C>A	noncoding	Benign
12	8841389	T	C	T8841389C	A2ML1	NM_144670.6(A2ML1):c.1101T>C:p.Asp367=	coding	Benign
12	8841397	T	C	T8841397C	A2ML1	NM_144670.6(A2ML1):c.1109T>C:p.Phe370Ser	coding	Benign
12	8841616	T	C	T8841616C	A2ML1	NM_144670.6(A2ML1):c.1248+80T>C	noncoding	Benign
12	8842927	C	G	C8842927G	A2ML1	NM_144670.6(A2ML1):c.1249-207C>G	noncoding	Benign
12	8843160	A	G	A8843160G	A2ML1	NM_144670.6(A2ML1):c.1275A>G:p.Val425=	coding	Benign
12	8843253	C	T	C8843253T	A2ML1	NM_144670.6(A2ML1):c.1368C>T:p.His456=	coding	Benign/Likely_benign
12	8843369	C	G	C8843369G	A2ML1	NM_144670.6(A2ML1):c.1476+8C>G	noncoding	Benign
12	8843369	C	T	C8843369T	A2ML1	NM_144670.6(A2ML1):c.1476+8C>T	noncoding	Benign
12	8843370	G	A	G8843370A	A2ML1	NM_144670.6(A2ML1):c.1476+9G>A	noncoding	Benign
12	8845245	G	T	G8845245T	A2ML1	NM_144670.6(A2ML1):c.1477-197G>T	noncoding	Benign
12	8845319	C	T	C8845319T	A2ML1	NM_144670.6(A2ML1):c.1477-123C>T	noncoding	Benign
12	8845429	T	C	T8845429C	A2ML1	NM_144670.6(A2ML1):c.1477-13T>C	noncoding	Benign/Likely_benign
12	8846296	A	G	A8846296G	A2ML1	NM_144670.6(A2ML1):c.1683+74A>G	noncoding	Benign
12	8847533	C	T	C8847533T	A2ML1	NM_144670.6(A2ML1):c.1684-16C>T	noncoding	Benign
12	8847551	T	G	T8847551G	A2ML1	NM_144670.6(A2ML1):c.1686T>G:p.Val562=	coding	Benign
12	8847610	A	G	A8847610G	A2ML1	NM_144670.6(A2ML1):c.1745A>G:p.Gln582Arg	coding	Benign
12	8848823	T	C	T8848823C	A2ML1	NM_144670.6(A2ML1):c.1937T>C:p.Ile646Thr	coding	Benign/Likely_benign
12	8848912	C	T	C8848912T	A2ML1	NM_144670.6(A2ML1):c.2026C>T:p.Arg676Trp	coding	Benign/Likely_benign
12	8849121	T	C	T8849121C	A2ML1	NM_144670.6(A2ML1):c.2028+207T>C	noncoding	Benign
12	8849393	C	G	C8849393G	A2ML1	NM_144670.6(A2ML1):c.2029-276C>G	noncoding	Benign
12	8849661	C	T	C8849661T	A2ML1	NM_144670.6(A2ML1):c.2029-8C>T	noncoding	Benign
12	8849664	A	C	A8849664C	A2ML1	NM_144670.6(A2ML1):c.2029-5A>C	noncoding	Benign
12	8849672	G	T	G8849672T	A2ML1	NM_144670.6(A2ML1):c.2032G>T:p.Val678Leu	coding	Benign/Likely_benign
12	8850213	G	A	G8850213A	A2ML1	NM_144670.6(A2ML1):c.2173G>A:p.Glu725Lys	coding	Benign/Likely_benign
12	8850284	G	A	G8850284A	A2ML1	NM_144670.6(A2ML1):c.2234+10G>A	noncoding	Benign
12	8851792	G	A	G8851792A	A2ML1	NM_144670.6(A2ML1):c.2243G>A:p.Gly748Glu	coding	Benign
12	8851798	A	C	A8851798C	A2ML1	NM_144670.6(A2ML1):c.2249A>C:p.Glu750Ala	coding	Benign/Likely_benign
12	8851801	C	T	C8851801T	A2ML1	NM_144670.6(A2ML1):c.2252C>T:p.Ala751Val	coding	Benign
12	8851844	G	A	G8851844A	A2ML1	NM_144670.6(A2ML1):c.2295G>A:p.Ala765=	coding	Benign
12	8851916	G	A	G8851916A	A2ML1	NM_144670.6(A2ML1):c.2367G>A:p.Pro789=	coding	Benign
12	8852025	G	C	G8852025C	A2ML1	NM_144670.6(A2ML1):c.2463+13G>C	noncoding	Benign
12	8852071	G	C	G8852071C	A2ML1	NM_144670.6(A2ML1):c.2463+59G>C	noncoding	Benign
12	8852306	C	T	C8852306T	A2ML1	NM_144670.6(A2ML1):c.2560C>T:p.His854Tyr	coding	Benign/Likely_benign
12	8854435	C	G	C8854435G	A2ML1	NM_144670.6(A2ML1):c.2712+186C>G	noncoding	Benign
12	8854816	T	C	T8854816C	A2ML1	NM_144670.6(A2ML1):c.2749T>C:p.Leu917=	coding	Benign
12	8854843	C	G	C8854843G	A2ML1	NM_144670.6(A2ML1):c.2764+12C>G	noncoding	Benign
12	8855722	G	C	G8855722C	A2ML1	NM_144670.6(A2ML1):c.2848+130G>C	noncoding	Benign
12	8857183	C	T	C8857183T	A2ML1	NM_144670.6(A2ML1):c.2868C>T:p.Ala956=	coding	Benign
12	8857224	G	A	G8857224A	A2ML1	NM_144670.6(A2ML1):c.2909G>A:p.Cys970Tyr	coding	Benign
12	8857239	T	C	T8857239C	A2ML1	NM_144670.6(A2ML1):c.2924T>C:p.Met975Thr	coding	Benign/Likely_benign
12	8857318	G	A	G8857318A	A2ML1	NM_144670.6(A2ML1):c.3003G>A:p.Arg1001=	coding	Benign/Likely_benign
12	8857962	A	G	A8857962G	A2ML1	NM_144670.6(A2ML1):c.3124A>G:p.Thr1042Ala	coding	Benign/Likely_benign
12	8858075	G	A	G8858075A	A2ML1	NM_144670.6(A2ML1):c.3237G>A:p.Val1079=	coding	Benign
12	8858090	C	T	C8858090T	A2ML1	NM_144670.6(A2ML1):c.3252C>T:p.His1084=	coding	Benign
12	8858373	A	G	A8858373G	A2ML1	NM_144670.6(A2ML1):c.3264+271A>G	noncoding	Benign
12	8860733	G	A	G8860733A	A2ML1	NM_144670.6(A2ML1):c.3265-148G>A	noncoding	Benign
12	8860846	C	T	C8860846T	A2ML1	NM_144670.6(A2ML1):c.3265-35C>T	noncoding	Benign
12	8860885	G	A	G8860885A	A2ML1	NM_144670.6(A2ML1):c.3269G>A:p.Gly1090Asp	coding	Benign/Likely_benign
12	8860888	T	C	T8860888C	A2ML1	NM_144670.6(A2ML1):c.3272T>C:p.Val1091Ala	coding	Benign
12	8861159	C	T	C8861159T	A2ML1	NM_144670.6(A2ML1):c.3364C>T:p.Arg1122Trp	coding	Benign
12	8861175	C	T	C8861175T	A2ML1	NM_144670.6(A2ML1):c.3380C>T:p.Ser1127Leu	coding	Benign
12	8861187	C	T	C8861187T	A2ML1	NM_144670.6(A2ML1):c.3392C>T:p.Thr1131Met	coding	Benign
12	8861308	C	T	C8861308T	A2ML1	NM_144670.6(A2ML1):c.3502+11C>T	noncoding	Benign
12	8863611	A	G	A8863611G	A2ML1	NM_144670.6(A2ML1):c.3503-183A>G	noncoding	Benign
12	8863613	G	A	G8863613A	A2ML1	NM_144670.6(A2ML1):c.3503-181G>A	noncoding	Benign
12	8863807	C	T	C8863807T	A2ML1	NM_144670.6(A2ML1):c.3516C>T:p.Tyr1172=	coding	Benign/Likely_benign
12	8863841	A	T	A8863841T	A2ML1	NM_144670.6(A2ML1):c.3550A>T:p.Ser1184Cys	coding	Benign
12	8863860	C	T	C8863860T	A2ML1	NM_144670.6(A2ML1):c.3569C>T:p.Ala1190Val	coding	Benign/Likely_benign
12	8864069	G	C	G8864069C	A2ML1	NM_144670.6(A2ML1):c.3717+61G>C	noncoding	Benign
12	8864257	C	A	C8864257A	A2ML1	NM_144670.6(A2ML1):c.3717+249C>A	noncoding	Benign
12	8864260	C	A	C8864260A	A2ML1	NM_144670.6(A2ML1):c.3717+252C>A	noncoding	Benign
12	8864261	G	C	G8864261C	A2ML1	NM_144670.6(A2ML1):c.3717+253G>C	noncoding	Benign
12	8867732	T	C	T8867732C	A2ML1	NM_144670.6(A2ML1):c.3718-110T>C	noncoding	Benign
12	8867893	A	G	A8867893G	A2ML1	NM_144670.6(A2ML1):c.3769A>G:p.Met1257Val	coding	Benign
12	8867913	C	G	C8867913G	A2ML1	NM_144670.6(A2ML1):c.3789C>G:p.Asn1263Lys	coding	Benign/Likely_benign
12	8867967	T	C	T8867967C	A2ML1	NM_144670.6(A2ML1):c.3843T>C:p.Val1281=	coding	Benign
12	8868002	A	G	A8868002G	A2ML1	NM_144670.6(A2ML1):c.3878A>G:p.Asn1293Ser	coding	Benign/Likely_benign
12	8868004	G	A	G8868004A	A2ML1	NM_144670.6(A2ML1):c.3880G>A:p.Val1294Ile	coding	Benign
12	8868027	G	C	G8868027C	A2ML1	NM_144670.6(A2ML1):c.3903G>C:p.Glu1301Asp	coding	Benign/Likely_benign
12	8868071	C	T	C8868071T	A2ML1	NM_144670.6(A2ML1):c.3933+14C>T	noncoding	Benign
12	8868198	G	C	G8868198C	A2ML1	NM_144670.6(A2ML1):c.3934-32G>C	noncoding	Benign
12	8868200	C	T	C8868200T	A2ML1	NM_144670.6(A2ML1):c.3934-30C>T	noncoding	Benign
12	8868258	C	T	C8868258T	A2ML1	NM_144670.6(A2ML1):c.3962C>T:p.Pro1321Leu	coding	Benign/Likely_benign
12	8868316	A	G	A8868316G	A2ML1	NM_144670.6(A2ML1):c.4020A>G:p.Gln1340=	coding	Benign
12	8868358	G	C	G8868358C	A2ML1	NM_144670.6(A2ML1):c.4061+1G>C	coding	Pathogenic
12	8868660	C	T	C8868660T	A2ML1	NM_144670.6(A2ML1):c.4152+33C>T	noncoding	Benign
12	8868687	A	T	A8868687T	A2ML1	NM_144670.6(A2ML1):c.4152+60A>T	noncoding	Benign
12	8868929	C	A	C8868929A	A2ML1	NM_144670.6(A2ML1):c.4153-206C>A	noncoding	Benign
12	8874436	C	T	C8874436T	A2ML1	NM_144670.6(A2ML1):c.4233C>T:p.Asn1411=	coding	Benign/Likely_benign
12	8874437	A	G	A8874437G	A2ML1	NM_144670.6(A2ML1):c.4234A>G:p.Thr1412Ala	coding	Benign
12	8874464	C	T	C8874464T	A2ML1	NM_144670.6(A2ML1):c.4261C>T:p.Gln1421Ter	coding	Benign/Likely_benign
12	8874833	A	G	A8874833G	A2ML1	NM_144670.6(A2ML1):c.4325-138A>G	noncoding	Benign
12	8874953	A	T	A8874953T	A2ML1	NM_144670.6(A2ML1):c.4325-18A>T	noncoding	Benign
12	8875024	G	A	G8875024A	A2ML1	NM_144670.6(A2ML1):c.1+12G>A	noncoding	Benign
12	8930740	A	G	A8930740G	PHC1	NM_004426.3(PHC1):c.918A>G:p.Arg306=	coding	Benign
12	8939418	C	T	C8939418T	PHC1	NM_004426.3(PHC1):c.2974C>T:p.Leu992Phe	coding	Pathogenic/Likely_pathogenic
12	9074556	C	T	C9074556T	A2M	NM_000014.6(A2M):c.3756+4G>A	noncoding	Benign
12	9076832	A	G	A9076832G	A2M	NM_000014.6(A2M):c.3456T>C:p.Tyr1152=	coding	Benign
12	9079755	C	T	C9079755T	A2M	NM_000014.5(A2M):c.2915G>A:p.Cys972Tyr	coding	Benign
12	9090420	C	T	C9090420T	A2M	NM_000014.6(A2M):c.2532G>A:p.Ala844=	coding	Benign
12	9094987	C	T	C9094987T	A2M	NM_000014.5(A2M):c.2111G>A:p.Arg704His	coding	Benign
12	9101630	C	T	C9101630T	A2M	NM_000014.6(A2M):c.1311G>A:p.Val437=	coding	Benign
12	9104350	G	A	G9104350A	A2M	NM_000014.6(A2M):c.1155C>T:p.Phe385=	coding	Benign
12	9107574	C	T	C9107574T	A2M	NM_000014.6(A2M):c.829G>A:p.Asp277Asn	coding	Benign
12	9107621	G	A	G9107621A	A2M	NM_000014.6(A2M):c.782C>T:p.Pro261Leu	coding	Benign
12	9112420	G	C	G9112420C	A2M	NM_000014.6(A2M):c.387C>G:p.Val129=	coding	Benign
12	9158429	A	G	A9158429G	PZP	NM_002864.3(PZP):c.3285T>C:p.Asn1095=	coding	Benign
12	9165289	G	A	G9165289A	PZP	NM_002864.3(PZP):c.2337C>T:p.Ser779=	coding	Benign
12	9168938	G	A	G9168938A	PZP	NM_002864.3(PZP):c.2038C>T:p.Arg680Ter	coding	Benign
12	9181999	C	T	C9181999T	PZP	NM_002864.3(PZP):c.1665G>A:p.Glu555=	coding	Benign
12	9192633	T	G	T9192633G	PZP	NM_002864.3(PZP):c.1361A>C:p.Tyr454Ser	coding	Benign
12	9197002	G	A	G9197002A	PZP	NM_002864.3(PZP):c.867+10C>T	noncoding	Benign
12	9197114	A	G	A9197114G	PZP	NM_002864.3(PZP):c.765T>C:p.Tyr255=	coding	Benign
12	9542835	G	T	G9542835T	-	NC_000012.11:g.9695431G>T	noncoding	Benign
12	9542837	A	G	A9542837G	-	NC_000012.11:g.9695433A>G	noncoding	Benign
12	9557442	A	G	A9557442G	-	NC_000012.11:g.9710038A>G	noncoding	Benign
12	9560817	A	G	A9560817G	-	NC_000012.11:g.9713413A>G	noncoding	Benign
12	9753550	T	C	T9753550C	CD69	NM_001781.2(CD69):c.531A>G:p.Lys177=	coding	Benign
12	10052733	G	A	G10052733A	CLEC9A	NM_207345.4(CLEC9A):c.46G>A:p.Ala16Thr	coding	Benign
12	10118456	T	C	T10118456C	CLEC7A	NM_197947.3(CLEC7A):c.*2A>G	noncoding	Benign
12	10118488	A	C	A10118488C	CLEC7A	NM_197947.3(CLEC7A):c.714T>G:p.Tyr238Ter	coding	Benign
12	10118534	A	C	A10118534C	CLEC7A	NM_197947.3(CLEC7A):c.668T>G:p.Ile223Ser	coding	Benign
12	10123309	G	A	G10123309A	CLEC7A	NM_197947.3(CLEC7A):c.547C>T:p.Leu183Phe	coding	Benign
12	10125307	G	A	G10125307A	CLEC7A	NM_197947.3(CLEC7A):c.482C>T:p.Ser161Leu	coding	Benign
12	10125392	G	A	G10125392A	CLEC7A	NM_197947.3(CLEC7A):c.397C>T:p.Leu133=	coding	Benign
12	10418495	C	A	C10418495A	KLRC3	NM_002261.3(KLRC3):c.335G>T:p.Arg112Leu	coding	Benign
12	10420495	C	G	C10420495G	KLRC3	NM_002261.3(KLRC3):c.56G>C:p.Trp19Ser	coding	Benign
12	10420496	A	G	A10420496G	KLRC3	NM_002261.3(KLRC3):c.55T>C:p.Trp19Arg	coding	Benign
12	10420546	C	T	C10420546T	KLRC3	NM_002261.3(KLRC3):c.5G>A:p.Ser2Asn	coding	Benign
12	10434512	A	G	A10434512G	KLRC2	NM_002260.3(KLRC2):c.305T>C:p.Phe102Ser	coding	Benign
12	10435819	A	G	A10435819G	KLRC2	NM_002260.3(KLRC2):c.168T>C:p.Asp56=	coding	Benign
12	10435931	C	G	C10435931G	KLRC2	NM_002260.3(KLRC2):c.56G>C:p.Arg19Pro	coding	Benign
12	10435982	T	C	T10435982C	KLRC2	NM_002260.3(KLRC2):c.5A>G:p.Asn2Ser	coding	Benign
12	10607844	A	T	A10607844T	MAGOHB	NM_018048.5(MAGOHB):c.347+10T>A	noncoding	Benign
12	10631058	G	C	G10631058C	STYK1	NM_018423.3(STYK1):c.438C>G:p.Leu146=	coding	Benign
12	10631285	T	C	T10631285C	STYK1	NM_018423.3(STYK1):c.211A>G:p.Arg71Gly	coding	Benign
12	10801931	G	A	G10801931A	TAS2R7	NM_023919.2(TAS2R7):c.640C>T:p.Arg214Ter	coding	Benign
12	10806935	C	A	C10806935A	TAS2R8	NM_023918.2(TAS2R8):c.46G>T:p.Glu16Ter	coding	Benign
12	10809423	C	T	C10809423T	TAS2R9	NM_023917.2(TAS2R9):c.653G>A:p.Gly218Glu	coding	Benign
12	10809626	A	T	A10809626T	TAS2R9	NM_023917.2(TAS2R9):c.450T>A:p.Asp150Glu	coding	Benign
12	10809875	G	T	G10809875T	TAS2R9	NM_023917.2(TAS2R9):c.201C>A:p.Phe67Leu	coding	Benign
12	10882272	C	T	C10882272T	PRH1	NM_001291315.2(PRH1):c.566G>A:p.Arg189His	coding	Benign
12	10882381	G	A	G10882381A	PRH1	NM_001291315.2(PRH1):c.457C>T:p.Arg153Cys	coding	Benign
12	10938599	G	A	G10938599A	TAS2R14	NM_023922.1(TAS2R14):c.609C>T:p.Phe203=	coding	Benign
12	10939019	G	A	G10939019A	TAS2R14	NM_023922.1(TAS2R14):c.189C>T:p.Phe63=	coding	Benign
12	10939193	T	C	T10939193C	TAS2R14	NM_023922.1(TAS2R14):c.15A>G:p.Ile5Met	coding	Benign
12	10986774	C	G	C10986774G	TAS2R50	NM_176890.2(TAS2R50):c.87G>C:p.Leu29=	coding	Benign
12	10997667	A	C	A10997667C	TAS2R20	NM_176889.3(TAS2R20):c.209T>G:p.Val70Gly	coding	Benign
12	10997772	C	T	C10997772T	TAS2R20	NM_176889.3(TAS2R20):c.104G>A:p.Trp35Ter	coding	Benign
12	11092122	G	C	G11092122C	TAS2R43	NM_176884.2(TAS2R43):c.108C>G:p.Phe36Leu	coding	Benign
12	11092124	A	C	A11092124C	TAS2R43	NM_176884.2(TAS2R43):c.106T>G:p.Phe36Val	coding	Benign
12	11092131	A	G	A11092131G	TAS2R43	NM_176884.2(TAS2R43):c.99T>C:p.Ile33=	coding	Benign
12	11092145	G	A	G11092145A	TAS2R43	NM_176884.2(TAS2R43):c.85C>T:p.Leu29=	coding	Benign
12	11092146	T	C	T11092146C	TAS2R43	NM_176884.2(TAS2R43):c.84A>G:p.Ala28=	coding	Benign
12	11092194	C	T	C11092194T	TAS2R43	NM_176884.2(TAS2R43):c.36G>A:p.Leu12=	coding	Benign
12	11092206	A	T	A11092206T	TAS2R43	NM_176884.2(TAS2R43):c.24T>A:p.Ile8=	coding	Benign
12	11092215	T	C	T11092215C	TAS2R43	NM_176884.2(TAS2R43):c.15A>G:p.Leu5=	coding	Benign
12	11309360	T	C	T11309360C	PRB4	NM_002723.6(PRB4):c.100+10A>G	noncoding	Benign
12	11310388	A	G	A11310388G	PRB4	NM_002723.6(PRB4):c.11T>C:p.Ile4Thr	coding	Benign
12	11752473	T	C	T11752473C	ETV6	NM_001987.4(ETV6):c.57T>C:p.Pro19=	coding	Benign/Likely_benign
12	11839202	G	T	G11839202T	ETV6	NM_001987.4(ETV6):c.226G>T:p.Glu76Ter	coding	Pathogenic
12	11869533	G	T	G11869533T	ETV6	NM_001987.5(ETV6):c.573G>T:p.Arg191=	coding	Benign
12	11869562	T	C	T11869562C	ETV6	NM_001987.4(ETV6):c.602T>C:p.Leu201Pro	coding	Benign
12	11869601	C	T	C11869601T	ETV6	NM_001987.4(ETV6):c.641C>T:p.Pro214Leu	coding	Pathogenic/Likely_pathogenic
12	11884481	T	C	T11884481C	ETV6	NM_001987.4(ETV6):c.1046T>C:p.Leu349Pro	coding	Pathogenic
12	11884510	C	A	C11884510A	ETV6	NM_001987.5(ETV6):c.1075C>A:p.Arg359=	coding	Benign
12	11884541	G	A	G11884541A	ETV6	NM_001987.4(ETV6):c.1106G>A:p.Arg369Gln	coding	Pathogenic
12	11885968	C	T	C11885968T	ETV6	NM_001987.4(ETV6):c.1195C>T:p.Arg399Cys	coding	Pathogenic
12	11886025	A	G	A11886025G	ETV6	NM_001987.4(ETV6):c.1252A>G:p.Arg418Gly	coding	Pathogenic
12	12079512	G	A	G12079512A	BCL2L14	NM_138723.2(BCL2L14):c.207G>A:p.Glu69=	coding	Benign
12	12121249	G	A	G12121249A	LRP6	NM_002336.3(LRP6):c.4719C>T:p.Pro1573=	coding	Benign
12	12126801	C	T	C12126801T	LRP6	NM_002336.3(LRP6):c.4202G>A:p.Arg1401His	coding	Benign
12	12126883	C	T	C12126883T	LRP6	NM_002336.3(LRP6):c.4120G>A:p.Val1374Ile	coding	Benign
12	12130898	A	G	A12130898G	LRP6	NM_002336.3(LRP6):c.3971-5T>C	noncoding	Benign
12	12138536	T	G	T12138536G	LRP6	NM_002336.3(LRP6):c.3398-2A>C	noncoding	Pathogenic
12	12148936	A	G	A12148936G	LRP6	NM_002336.3(LRP6):c.3206+6T>C	noncoding	Benign
12	12148956	T	C	T12148956C	LRP6	NM_002336.3(LRP6):c.3192A>G:p.Val1064=	coding	Benign
12	12148970	G	A	G12148970A	LRP6	NM_002336.3(LRP6):c.3178C>T:p.Arg1060Ter	coding	Pathogenic
12	12150834	A	G	A12150834G	LRP6	NM_002336.3(LRP6):c.2994+2T>C	noncoding	Pathogenic
12	12150877	G	A	G12150877A	LRP6	NM_002336.3(LRP6):c.2953C>T:p.Arg985Ter	coding	Pathogenic
12	12158914	G	A	G12158914A	LRP6	NM_002336.3(LRP6):c.2706C>T:p.His902=	coding	Benign
12	12158951	C	T	C12158951T	LRP6	NM_002336.3(LRP6):c.2669G>A:p.Trp890Ter	coding	Pathogenic
12	12159862	G	A	G12159862A	LRP6	NM_002336.3(LRP6):c.2382C>T:p.Asn794=	coding	Benign
12	12162254	G	A	G12162254A	LRP6	NM_002336.3(LRP6):c.2218C>T:p.Gln740Ter	coding	Pathogenic
12	12164494	G	A	G12164494A	LRP6	NM_002336.3(LRP6):c.1831C>T:p.Arg611Cys	coding	Pathogenic
12	12164534	C	T	C12164534T	LRP6	NM_002336.3(LRP6):c.1791G>A:p.Gly597=	coding	Benign
12	12179937	C	T	C12179937T	LRP6	NM_002336.3(LRP6):c.1418G>A:p.Arg473Gln	coding	Pathogenic
12	12181118	T	C	T12181118C	LRP6	NM_002336.3(LRP6):c.1298A>G:p.Asn433Ser	coding	Pathogenic
12	12181173	G	A	G12181173A	LRP6	NM_002336.3(LRP6):c.1243C>T:p.Arg415Ter	coding	Pathogenic
12	12181337	C	T	C12181337T	LRP6	NM_002336.3(LRP6):c.1079G>A:p.Arg360His	coding	Pathogenic
12	12244655	G	A	G12244655A	LRP6	NM_002336.3(LRP6):c.56C>T:p.Ala19Val	coding	Pathogenic
12	12343186	T	C	T12343186C	MANSC1	NM_018050.4(MANSC1):c.129A>G:p.Ser43=	coding	Benign
12	12520007	T	G	T12520007G	DUSP16	NM_030640.3(DUSP16):c.229-7A>C	noncoding	Benign
12	12661285	C	T	C12661285T	GPR19	NM_006143.3(GPR19):c.1164G>A:p.Ser388=	coding	Benign
12	12661947	C	T	C12661947T	GPR19	NM_006143.3(GPR19):c.502G>A:p.Val168Ile	coding	Benign
12	12662044	A	G	A12662044G	GPR19	NM_006143.3(GPR19):c.405T>C:p.Ser135=	coding	Benign
12	12717002	C	A	C12717002A	CDKN1B	NM_004064.4(CDKN1B):c.-838C>A	noncoding	Benign
12	12717429	T	C	T12717429C	CDKN1B	NM_004064.4(CDKN1B):c.-411T>C	noncoding	Benign
12	12717574	C	G	C12717574G	CDKN1B	NM_004064.4(CDKN1B):c.-266C>G	noncoding	Benign
12	12717586	C	G	C12717586G	CDKN1B	NM_004064.4(CDKN1B):c.-254C>G	noncoding	Benign
12	12717714	C	T	C12717714T	CDKN1B	NM_004064.4(CDKN1B):c.-126C>T	noncoding	Benign
12	12717761	T	C	T12717761C	CDKN1B	NM_004064.4(CDKN1B):c.-79T>C	noncoding	Benign
12	12717830	C	T	C12717830T	CDKN1B	NM_004064.4(CDKN1B):c.-10C>T	noncoding	Benign
12	12717897	C	T	C12717897T	CDKN1B	NM_004064.5(CDKN1B):c.58C>T:p.Gln20Ter	coding	Pathogenic
12	12718004	G	A	G12718004A	CDKN1B	NM_004064.4(CDKN1B):c.165G>A:p.Ala55=	coding	Benign
12	12718056	A	T	A12718056T	CDKN1B	NM_004064.4(CDKN1B):c.217A>T:p.Lys73Ter	coding	Pathogenic
12	12718066	G	A	G12718066A	CDKN1B	NM_004064.4(CDKN1B):c.227G>A:p.Trp76Ter	coding	Pathogenic
12	12718073	G	A	G12718073A	CDKN1B	NM_004064.4(CDKN1B):c.234G>A:p.Glu78=	coding	Benign/Likely_benign
12	12718090	T	A	T12718090A	CDKN1B	NM_004064.4(CDKN1B):c.251T>A:p.Leu84Ter	coding	Pathogenic
12	12718097	G	A	G12718097A	CDKN1B	NM_004064.4(CDKN1B):c.258G>A:p.Glu86=	coding	Benign
12	12718106	C	G	C12718106G	CDKN1B	NM_004064.4(CDKN1B):c.267C>G:p.Tyr89Ter	coding	Pathogenic
12	12718149	C	T	C12718149T	CDKN1B	NM_004064.5(CDKN1B):c.310C>T:p.Gln104Ter	coding	Pathogenic
12	12718165	T	G	T12718165G	CDKN1B	NM_004064.4(CDKN1B):c.326T>G:p.Val109Gly	coding	Benign
12	12718265	G	A	G12718265A	CDKN1B	NM_004064.4(CDKN1B):c.426G>A:p.Thr142=	coding	Benign/Likely_benign
12	12718324	C	T	C12718324T	CDKN1B	NM_004064.4(CDKN1B):c.475+10C>T	noncoding	Benign/Likely_benign
12	12718812	C	T	C12718812T	CDKN1B	NM_004064.4(CDKN1B):c.476-13C>T	noncoding	Benign
12	12718819	G	A	G12718819A	CDKN1B	NM_004064.4(CDKN1B):c.476-6G>A	noncoding	Benign
12	12718892	C	G	C12718892G	CDKN1B	NM_004064.4(CDKN1B):c.543C>G:p.Ala181=	coding	Benign/Likely_benign
12	12718926	C	T	C12718926T	CDKN1B	NM_004064.4(CDKN1B):c.577C>T:p.Leu193Phe	coding	Benign/Likely_benign
12	12721027	C	G	C12721027G	CDKN1B	NM_004064.4(CDKN1B):c.*9-9C>G	noncoding	Benign
12	12721123	C	G	C12721123G	CDKN1B	NM_004064.4(CDKN1B):c.*96C>G	noncoding	Benign
12	12721200	T	C	T12721200C	CDKN1B	NM_004064.4(CDKN1B):c.*173T>C	noncoding	Benign
12	12721208	T	C	T12721208C	CDKN1B	NM_004064.4(CDKN1B):c.*181T>C	noncoding	Benign
12	12721528	G	A	G12721528A	CDKN1B	NM_004064.4(CDKN1B):c.*501G>A	noncoding	Benign
12	12721637	T	A	T12721637A	CDKN1B	NM_004064.4(CDKN1B):c.*610T>A	noncoding	Benign
12	12721860	T	A	T12721860A	CDKN1B	NM_004064.4(CDKN1B):c.*833T>A	noncoding	Benign
12	12721983	C	A	C12721983A	CDKN1B	NM_004064.4(CDKN1B):c.*956C>A	noncoding	Benign
12	12908320	C	G	C12908320G	GPRC5A	NM_003979.4(GPRC5A):c.71C>G:p.Ala24Gly	coding	Benign
12	13562927	G	A	G13562927A	GRIN2B	NM_000834.4(GRIN2B):c.4311C>T:p.Ala1437=	coding	Benign/Likely_benign
12	13562998	C	A	C13562998A	GRIN2B	NM_000834.4(GRIN2B):c.4240G>T:p.Ala1414Ser	coding	Benign/Likely_benign
12	13563008	C	T	C13563008T	GRIN2B	NM_000834.4(GRIN2B):c.4230G>A:p.Thr1410=	coding	Benign
12	13563009	G	A	G13563009A	GRIN2B	NM_000834.4(GRIN2B):c.4229C>T:p.Thr1410Met	coding	Benign
12	13563020	G	A	G13563020A	GRIN2B	NM_000834.4(GRIN2B):c.4218C>T:p.Phe1406=	coding	Benign
12	13563041	A	G	A13563041G	GRIN2B	NM_000834.4(GRIN2B):c.4197T>C:p.His1399=	coding	Benign
12	13563125	G	A	G13563125A	GRIN2B	NM_000834.4(GRIN2B):c.4113C>T:p.Tyr1371=	coding	Benign/Likely_benign
12	13563137	G	A	G13563137A	GRIN2B	NM_000834.4(GRIN2B):c.4101C>T:p.Pro1367=	coding	Benign/Likely_benign
12	13563357	T	G	T13563357G	GRIN2B	NM_000834.4(GRIN2B):c.3881A>C:p.Asn1294Thr	coding	Benign
12	13563401	A	C	A13563401C	GRIN2B	NM_000834.4(GRIN2B):c.3837T>G:p.Thr1279=	coding	Benign/Likely_benign
12	13563420	G	T	G13563420T	GRIN2B	NM_000834.4(GRIN2B):c.3818C>A:p.Thr1273Lys	coding	Benign/Likely_benign
12	13563431	T	A	T13563431A	GRIN2B	NM_000834.4(GRIN2B):c.3807A>T:p.Pro1269=	coding	Benign/Likely_benign
12	13563439	C	A	C13563439A	GRIN2B	NM_000834.4(GRIN2B):c.3799G>T:p.Ala1267Ser	coding	Benign/Likely_benign
12	13563565	A	T	A13563565T	GRIN2B	NM_000834.4(GRIN2B):c.3673T>A:p.Tyr1225Asn	coding	Benign
12	13563578	G	C	G13563578C	GRIN2B	NM_000834.4(GRIN2B):c.3660C>G:p.Ser1220=	coding	Benign/Likely_benign
12	13563686	G	A	G13563686A	GRIN2B	NM_000834.4(GRIN2B):c.3552C>T:p.Gly1184=	coding	Benign/Likely_benign
12	13563704	G	A	G13563704A	GRIN2B	NM_000834.4(GRIN2B):c.3534C>T:p.His1178=	coding	Benign
12	13563740	G	A	G13563740A	GRIN2B	NM_000834.4(GRIN2B):c.3498C>T:p.Ser1166=	coding	Benign
12	13563836	C	T	C13563836T	GRIN2B	NM_000834.4(GRIN2B):c.3402G>A:p.Leu1134=	coding	Benign
12	13563849	C	A	C13563849A	GRIN2B	NM_000834.5(GRIN2B):c.3389G>T:p.Arg1130Leu	coding	Benign
12	13564028	A	T	A13564028T	GRIN2B	NM_000834.4(GRIN2B):c.3210T>A:p.Tyr1070Ter	coding	Pathogenic
12	13564121	G	A	G13564121A	GRIN2B	NM_000834.4(GRIN2B):c.3117C>T:p.Tyr1039=	coding	Benign/Likely_benign
12	13564263	T	C	T13564263C	GRIN2B	NM_000834.4(GRIN2B):c.2975A>G:p.His992Arg	coding	Benign
12	13564535	C	T	C13564535T	GRIN2B	NM_000834.4(GRIN2B):c.2703G>A:p.Leu901=	coding	Benign/Likely_benign
12	13564547	G	A	G13564547A	GRIN2B	NM_000834.4(GRIN2B):c.2691C>T:p.Asn897=	coding	Benign
12	13564574	G	A	G13564574A	GRIN2B	NM_000834.5(GRIN2B):c.2664C>T:p.Thr888=	coding	Benign
12	13564590	A	G	A13564590G	GRIN2B	NM_000834.5(GRIN2B):c.2648T>C:p.Val883Ala	coding	Benign
12	13564610	C	T	C13564610T	GRIN2B	NM_000834.4(GRIN2B):c.2628G>A:p.Ala876=	coding	Benign/Likely_benign
12	13567084	G	A	G13567084A	GRIN2B	NM_000834.4(GRIN2B):c.2539C>T:p.Arg847Ter	coding	Pathogenic
12	13567109	G	A	G13567109A	GRIN2B	NM_000834.4(GRIN2B):c.2514C>T:p.Cys838=	coding	Benign
12	13567146	C	T	C13567146T	GRIN2B	NM_000834.4(GRIN2B):c.2477G>A:p.Gly826Glu	coding	Pathogenic/Likely_pathogenic
12	13567162	C	A	C13567162A	GRIN2B	NM_000834.5(GRIN2B):c.2461G>T:p.Val821Phe	coding	Pathogenic
12	13567164	C	A	C13567164A	GRIN2B	NM_000834.4(GRIN2B):c.2459G>T:p.Gly820Val	coding	Pathogenic/Likely_pathogenic
12	13567164	C	G	C13567164G	GRIN2B	NM_000834.4(GRIN2B):c.2459G>C:p.Gly820Ala	coding	Pathogenic/Likely_pathogenic
12	13567165	C	G	C13567165G	GRIN2B	NM_000834.4(GRIN2B):c.2458G>C:p.Gly820Arg	coding	Pathogenic
12	13567165	C	T	C13567165T	GRIN2B	NM_000834.4(GRIN2B):c.2458G>A:p.Gly820Arg	coding	Pathogenic/Likely_pathogenic
12	13567168	C	T	C13567168T	GRIN2B	NM_000834.5(GRIN2B):c.2455G>A:p.Ala819Thr	coding	Pathogenic/Likely_pathogenic
12	13567189	G	A	G13567189A	GRIN2B	NM_000834.5(GRIN2B):c.2434C>T:p.Gln812Ter	coding	Pathogenic
12	13567193	G	T	G13567193T	GRIN2B	NM_000834.4(GRIN2B):c.2430C>A:p.Ser810Arg	coding	Pathogenic
12	13567231	T	G	T13567231G	GRIN2B	NM_000834.5(GRIN2B):c.2392A>C:p.Thr798Pro	coding	Pathogenic
12	13567265	T	C	T13567265C	GRIN2B	NM_000834.4(GRIN2B):c.2360-2A>G	noncoding	Pathogenic
12	13567488	A	G	A13567488G	GRIN2B	NM_000834.4(GRIN2B):c.2360-225T>C	noncoding	Benign
12	13569606	T	G	T13569606G	GRIN2B	NM_000834.4(GRIN2B):c.2359+224A>C	noncoding	Benign
12	13569701	T	C	T13569701C	GRIN2B	NM_000834.4(GRIN2B):c.2359+129A>G	noncoding	Benign
12	13569783	G	T	G13569783T	GRIN2B	NM_000834.4(GRIN2B):c.2359+47C>A	noncoding	Benign
12	13569864	C	G	C13569864G	GRIN2B	NM_000834.5(GRIN2B):c.2325G>C:p.Gln775His	coding	Benign
12	13569937	A	G	A13569937G	GRIN2B	NM_000834.4(GRIN2B):c.2252T>C:p.Ile751Thr	coding	Pathogenic/Likely_pathogenic
12	13569987	T	C	T13569987C	GRIN2B	NM_000834.4(GRIN2B):c.2202A>G:p.Ala734=	coding	Benign/Likely_benign
12	13570019	T	C	T13570019C	GRIN2B	NM_000834.4(GRIN2B):c.2172-2A>G	noncoding	Pathogenic
12	13570193	T	C	T13570193C	GRIN2B	NM_000834.4(GRIN2B):c.2172-176A>G	noncoding	Benign
12	13570316	A	G	A13570316G	GRIN2B	NM_000834.4(GRIN2B):c.2172-299T>C	noncoding	Benign
12	13571801	T	C	T13571801C	GRIN2B	NM_000834.4(GRIN2B):c.2171+3A>G	noncoding	Pathogenic
12	13571844	G	A	G13571844A	GRIN2B	NM_000834.5(GRIN2B):c.2131C>T:p.Gln711Ter	coding	Pathogenic
12	13571891	A	G	A13571891G	GRIN2B	NM_000834.4(GRIN2B):c.2084T>C:p.Ile695Thr	coding	Pathogenic/Likely_pathogenic
12	13571910	C	T	C13571910T	GRIN2B	NM_000834.4(GRIN2B):c.2065G>A:p.Gly689Ser	coding	Pathogenic/Likely_pathogenic
12	13571931	G	A	G13571931A	GRIN2B	NM_000834.4(GRIN2B):c.2044C>T:p.Arg682Cys	coding	Pathogenic/Likely_pathogenic
12	13608647	G	A	G13608647A	GRIN2B	NM_000834.4(GRIN2B):c.1966C>T:p.Gln656Ter	coding	Pathogenic
12	13608659	C	G	C13608659G	GRIN2B	NM_000834.4(GRIN2B):c.1954G>C:p.Ala652Pro	coding	Pathogenic
12	13608697	G	A	G13608697A	GRIN2B	NM_000834.4(GRIN2B):c.1916C>T:p.Ala639Val	coding	Pathogenic/Likely_pathogenic
12	13608790	A	T	A13608790T	GRIN2B	NM_000834.4(GRIN2B):c.1823T>A:p.Leu608Ter	coding	Pathogenic
12	13608792	C	T	C13608792T	GRIN2B	NM_000834.4(GRIN2B):c.1821G>A:p.Trp607Ter	coding	Pathogenic
12	13608807	G	A	G13608807A	GRIN2B	NM_000834.4(GRIN2B):c.1806C>T:p.Ile602=	coding	Benign
12	13611716	C	T	C13611716T	GRIN2B	NM_000834.4(GRIN2B):c.1780+9G>A	noncoding	Benign
12	13611717	G	A	G13611717A	GRIN2B	NM_000834.4(GRIN2B):c.1780+8C>T	noncoding	Benign
12	13611828	C	T	C13611828T	GRIN2B	NM_000834.4(GRIN2B):c.1677G>A:p.Trp559Ter	coding	Pathogenic
12	13611840	G	A	G13611840A	GRIN2B	NM_000834.4(GRIN2B):c.1665C>T:p.Ser555=	coding	Benign
12	13615145	G	C	G13615145C	GRIN2B	NM_000834.5(GRIN2B):c.1623C>G:p.Ser541Arg	coding	Pathogenic
12	13615192	A	G	A13615192G	GRIN2B	NM_000834.5(GRIN2B):c.1576T>C	coding	Pathogenic
12	13615199	G	A	G13615199A	GRIN2B	NM_000834.4(GRIN2B):c.1569C>T:p.Val523=	coding	Benign/Likely_benign
12	13615213	G	A	G13615213A	GRIN2B	NM_000834.4(GRIN2B):c.1555C>T:p.Arg519Ter	coding	Pathogenic
12	13615280	C	T	C13615280T	GRIN2B	NM_000834.4(GRIN2B):c.1501-13G>A	noncoding	Benign
12	13615364	G	A	G13615364A	GRIN2B	NM_000834.4(GRIN2B):c.1501-97C>T	noncoding	Benign
12	13615597	T	A	T13615597A	GRIN2B	NM_000834.5(GRIN2B):c.1396A>T:p.Lys466Ter	coding	Pathogenic
12	13615621	T	A	T13615621A	GRIN2B	NM_000834.4(GRIN2B):c.1372A>T:p.Lys458Ter	coding	Pathogenic
12	13615625	G	T	G13615625T	GRIN2B	NM_000834.5(GRIN2B):c.1368C>A:p.Cys456Ter	coding	Pathogenic
12	13615648	C	A	C13615648A	GRIN2B	NM_000834.4(GRIN2B):c.1345G>T:p.Glu449Ter	coding	Pathogenic
12	13615652	G	A	G13615652A	GRIN2B	NM_000834.4(GRIN2B):c.1341C>T:p.Asp447=	coding	Benign
12	13615655	T	C	T13615655C	GRIN2B	NM_000834.4(GRIN2B):c.1338A>G:p.Thr446=	coding	Benign/Likely_benign
12	13616438	T	C	T13616438C	GRIN2B	NM_000834.4(GRIN2B):c.1328+17A>G	noncoding	Benign
12	13616454	C	T	C13616454T	GRIN2B	NM_000834.4(GRIN2B):c.1328+1G>A	noncoding	Pathogenic
12	13616545	T	C	T13616545C	GRIN2B	NM_000834.4(GRIN2B):c.1238A>G:p.Glu413Gly	coding	Pathogenic
12	13616669	T	C	T13616669C	GRIN2B	NM_000834.4(GRIN2B):c.1126-12A>G	noncoding	Benign
12	13675725	T	C	T13675725C	GRIN2B	NM_000834.4(GRIN2B):c.1125+20A>G	noncoding	Benign
12	13675751	C	T	C13675751T	GRIN2B	NM_000834.5(GRIN2B):c.1119G>A:p.Trp373Ter	coding	Pathogenic
12	13675767	T	G	T13675767G	GRIN2B	NM_000834.5(GRIN2B):c.1103A>C:p.Asn368Thr	coding	Benign
12	13675835	C	T	C13675835T	GRIN2B	NM_000834.4(GRIN2B):c.1035G>A:p.Glu345=	coding	Benign
12	13753314	C	T	C13753314T	GRIN2B	NM_000834.4(GRIN2B):c.1010+3G>A	noncoding	Benign
12	13753335	T	C	T13753335C	GRIN2B	NM_000834.4(GRIN2B):c.992A>G:p.Gln331Arg	coding	Benign
12	13753354	G	C	G13753354C	GRIN2B	NM_000834.4(GRIN2B):c.973C>G:p.His325Asp	coding	Benign
12	13753456	C	T	C13753456T	GRIN2B	NM_000834.5(GRIN2B):c.871G>A:p.Ala291Thr	coding	Benign
12	13753457	G	A	G13753457A	GRIN2B	NM_000834.4(GRIN2B):c.870C>T:p.Pro290=	coding	Benign
12	13753556	G	A	G13753556A	GRIN2B	NM_000834.4(GRIN2B):c.771C>T:p.Ile257=	coding	Benign
12	13753590	G	T	G13753590T	GRIN2B	NM_000834.5(GRIN2B):c.737C>A:p.Ser246Ter	coding	Pathogenic
12	13753621	C	A	C13753621A	GRIN2B	NM_000834.4(GRIN2B):c.706G>T:p.Glu236Ter	coding	Pathogenic
12	13753678	G	A	G13753678A	GRIN2B	NM_000834.5(GRIN2B):c.649C>T:p.Gln217Ter	coding	Pathogenic
12	13753789	G	A	G13753789A	GRIN2B	NM_000834.5(GRIN2B):c.538C>T:p.Gln180Ter	coding	Pathogenic
12	13753823	G	T	G13753823T	GRIN2B	NM_000834.4(GRIN2B):c.504C>A:p.Ile168=	coding	Benign
12	13753862	G	T	G13753862T	GRIN2B	NM_000834.4(GRIN2B):c.465C>A:p.Ser155=	coding	Benign
12	13865797	C	A	C13865797A	GRIN2B	NM_000834.5(GRIN2B):c.411+1G>T	noncoding	Pathogenic
12	13865797	C	T	C13865797T	GRIN2B	NM_000834.4(GRIN2B):c.411+1G>A	noncoding	Pathogenic
12	13865843	G	C	G13865843C	GRIN2B	NM_000834.4(GRIN2B):c.366C>G:p.Pro122=	coding	Benign
12	13865931	T	C	T13865931C	GRIN2B	NM_000834.5(GRIN2B):c.278A>G:p.Lys93Arg	coding	Benign
12	13865935	G	T	G13865935T	GRIN2B	NM_000834.5(GRIN2B):c.274C>A:p.Arg92=	coding	Benign
12	13865981	G	A	G13865981A	GRIN2B	NM_000834.4(GRIN2B):c.228C>T:p.Thr76=	coding	Benign/Likely_benign
12	13866020	G	T	G13866020T	GRIN2B	NM_000834.5(GRIN2B):c.189C>A:p.Ser63=	coding	Benign
12	13866117	C	G	C13866117G	GRIN2B	NM_000834.4(GRIN2B):c.92G>C:p.Ser31Thr	coding	Benign
12	13866164	C	T	C13866164T	GRIN2B	NM_000834.4(GRIN2B):c.45G>A:p.Val15=	coding	Benign
12	13866171	C	A	C13866171A	GRIN2B	NM_000834.5(GRIN2B):c.38G>T:p.Trp13Leu	coding	Benign
12	13866194	C	T	C13866194T	GRIN2B	NM_000834.4(GRIN2B):c.15G>A:p.Ala5=	coding	Benign
12	13866223	C	T	C13866223T	GRIN2B	NM_000834.4(GRIN2B):c.-15G>A	noncoding	Benign
12	13866236	C	G	C13866236G	GRIN2B	NM_000834.4(GRIN2B):c.-18-10G>C	noncoding	Benign
12	14424360	C	T	C14424360T	ATF7IP	NM_181352.2(ATF7IP):c.469C>T:p.Leu157=	coding	Benign
12	14424917	A	T	A14424917T	ATF7IP	NM_181352.2(ATF7IP):c.1026A>T:p.Ser342=	coding	Benign
12	14434364	A	G	A14434364G	ATF7IP	NM_181352.2(ATF7IP):c.1610A>G:p.Asn537Ser	coding	Benign
12	14460537	G	A	G14460537A	ATF7IP	NM_181352.2(ATF7IP):c.2225G>A:p.Ser742Asn	coding	Benign
12	14460697	A	G	A14460697G	ATF7IP	NM_181352.2(ATF7IP):c.2385A>G:p.Val795=	coding	Benign
12	14460845	T	C	T14460845C	ATF7IP	NM_181352.2(ATF7IP):c.2533T>C:p.Ser845Pro	coding	Benign
12	14481110	G	A	G14481110A	ATF7IP	NM_181352.2(ATF7IP):c.3229G>A:p.Ala1077Thr	coding	Benign
12	14613216	C	G	C14613216G	GUCY2C	NM_004963.4(GUCY2C):c.3123G>C:p.Gly1041=	coding	Benign
12	14616712	A	G	A14616712G	GUCY2C	NM_004963.4(GUCY2C):c.2891T>C:p.Val964Ala	coding	Benign
12	14619304	A	G	A14619304G	GUCY2C	NM_004963.4(GUCY2C):c.2782T>C:p.Cys928Arg	coding	Pathogenic
12	14622087	C	A	C14622087A	GUCY2C	NM_004963.4(GUCY2C):c.2519G>T:p.Ser840Ile	coding	Pathogenic
12	14625810	C	G	C14625810G	GUCY2C	NM_004963.4(GUCY2C):c.2355G>C:p.Leu785=	coding	Benign
12	14625841	A	G	A14625841G	GUCY2C	NM_004963.4(GUCY2C):c.2324T>C:p.Leu775Pro	coding	Pathogenic
12	14625914	G	C	G14625914C	GUCY2C	NM_004963.4(GUCY2C):c.2251C>G:p.Leu751Val	coding	Benign
12	14628735	C	T	C14628735T	GUCY2C	NM_004963.4(GUCY2C):c.2160G>A:p.Val720=	coding	Benign
12	14639933	C	A	C14639933A	GUCY2C	NM_004963.4(GUCY2C):c.2086G>T:p.Glu696Ter	coding	Pathogenic
12	14641128	G	A	G14641128A	GUCY2C	NM_004963.4(GUCY2C):c.2022C>T:p.Ile674=	coding	Benign
12	14641142	C	T	C14641142T	GUCY2C	NM_004963.4(GUCY2C):c.2008G>A:p.Ala670Thr	coding	Pathogenic
12	14645262	C	T	C14645262T	GUCY2C	NM_004963.4(GUCY2C):c.1764G>A:p.Glu588=	coding	Benign
12	14652973	T	C	T14652973C	GUCY2C	NM_004963.4(GUCY2C):c.1512A>G:p.Arg504=	coding	Benign
12	14661069	C	T	C14661069T	GUCY2C	NM_004963.4(GUCY2C):c.1283-7G>A	noncoding	Benign
12	14669744	A	C	A14669744C	GUCY2C	NM_004963.4(GUCY2C):c.1260T>G:p.Leu420=	coding	Benign
12	14669804	G	A	G14669804A	GUCY2C	NM_004963.4(GUCY2C):c.1200C>T:p.His400=	coding	Benign
12	14672883	T	C	T14672883C	GUCY2C	NM_004963.4(GUCY2C):c.1160A>G:p.Asp387Gly	coding	Pathogenic
12	14676909	G	A	G14676909A	GUCY2C	NM_004963.4(GUCY2C):c.893C>T:p.Thr298Met	coding	Benign/Likely_benign
12	14683243	A	G	A14683243G	GUCY2C	NM_004963.4(GUCY2C):c.410T>C:p.Leu137Ser	coding	Pathogenic
12	14686230	A	G	A14686230G	GUCY2C	NM_004963.4(GUCY2C):c.331-5T>C	noncoding	Benign
12	14696440	C	T	C14696440T	GUCY2C	NM_004963.4(GUCY2C):c.9G>A:p.Thr3=	coding	Benign
12	14794570	G	A	G14794570A	WBP11	NM_016312.3(WBP11):c.688C>T:p.Arg230Ter	coding	Pathogenic
12	14795008	G	A	G14795008A	WBP11	NM_016312.3(WBP11):c.484C>T:p.Gln162Ter	coding	Pathogenic
12	14881384	C	A	C14881384A	MGP	NM_000900.5(MGP):c.*755G>T	noncoding	Benign
12	14881524	T	C	T14881524C	MGP	NM_000900.5(MGP):c.*615A>G	noncoding	Benign
12	14881535	T	C	T14881535C	MGP	NM_000900.5(MGP):c.*604A>G	noncoding	Benign
12	14881587	T	A	T14881587A	MGP	NM_000900.5(MGP):c.*552A>T	noncoding	Benign
12	14881796	C	T	C14881796T	MGP	NM_000900.5(MGP):c.*343G>A	noncoding	Benign
12	14881800	A	G	A14881800G	MGP	NM_000900.5(MGP):c.*339T>C	noncoding	Benign
12	14881933	T	C	T14881933C	MGP	NM_000900.5(MGP):c.*206A>G	noncoding	Benign
12	14882112	A	C	A14882112C	MGP	NM_000900.5(MGP):c.*27T>G	noncoding	Benign
12	14882147	T	C	T14882147C	MGP	NM_000900.5(MGP):c.304A>G:p.Thr102Ala	coding	Benign
12	14882244	A	G	A14882244G	MGP	NM_000900.5(MGP):c.207T>C:p.Asn69=	coding	Benign/Likely_benign
12	14882985	T	C	T14882985C	MGP	NM_000900.5(MGP):c.157A>G:p.Lys53Glu	coding	Benign/Likely_benign
12	14883027	T	G	T14883027G	MGP	NM_000900.5(MGP):c.115A>C:p.Asn39His	coding	Benign/Likely_benign
12	14884212	C	T	C14884212T	MGP	NM_000900.5(MGP):c.94+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	14884220	A	T	A14884220T	MGP	NM_000900.5(MGP):c.87T>A:p.Tyr29Ter	coding	Pathogenic
12	14884247	T	C	T14884247C	MGP	NM_000900.5(MGP):c.62-2A>G	noncoding	Pathogenic
12	14885769	G	A	G14885769A	MGP	NM_000900.5(MGP):c.23C>T:p.Ala8Val	coding	Benign
12	14885854	C	T	C14885854T	MGP	NM_000900.5(MGP):c.-63G>A	noncoding	Benign
12	14973055	C	A	C14973055A	PDE6H	NM_006205.3(PDE6H):c.-73C>A	noncoding	Benign
12	14973069	G	C	G14973069C	PDE6H	NM_006205.3(PDE6H):c.-59G>C	noncoding	Benign
12	14981419	A	G	A14981419G	PDE6H	NM_006205.3(PDE6H):c.195A>G:p.Pro65=	coding	Benign
12	14981777	A	G	A14981777G	PDE6H	NM_006205.3(PDE6H):c.*301A>G	noncoding	Benign
12	14981795	T	C	T14981795C	PDE6H	NM_006205.3(PDE6H):c.*319T>C	noncoding	Benign
12	15109425	C	T	C15109425T	RERG	NM_032918.3(RERG):c.285G>A:p.Val95=	coding	Benign
12	15121064	G	A	G15121064A	RERG	NM_032918.3(RERG):c.117C>T:p.Leu39=	coding	Benign
12	15501640	A	G	A15501640G	PTPRO	NM_030667.3(PTPRO):c.682A>G:p.Ile228Val	coding	Benign
12	15508630	G	A	G15508630A	PTPRO	NM_030667.3(PTPRO):c.1327G>A:p.Val443Ile	coding	Benign
12	15515605	G	A	G15515605A	PTPRO	NM_030667.3(PTPRO):c.1572G>A:p.Val524=	coding	Benign
12	15516953	C	T	C15516953T	PTPRO	NM_030667.3(PTPRO):c.1776C>T:p.Ser592=	coding	Benign
12	15526198	C	T	C15526198T	PTPRO	NM_030667.3(PTPRO):c.2100C>T:p.Asn700=	coding	Benign
12	15546660	T	C	T15546660C	PTPRO	NM_030667.3(PTPRO):c.2256T>C:p.Phe752=	coding	Benign
12	15557524	G	T	G15557524T	PTPRO	NM_030667.3(PTPRO):c.2627+1G>T	coding	Pathogenic
12	15569499	G	A	G15569499A	PTPRO	NM_030667.3(PTPRO):c.2829+1G>A	coding	Pathogenic
12	15569506	G	A	G15569506A	PTPRO	NM_030667.3(PTPRO):c.2829+8G>A	noncoding	Benign
12	15578864	G	A	G15578864A	PTPRO	NM_030667.3(PTPRO):c.2841G>A:p.Leu947=	coding	Benign
12	15581768	C	T	C15581768T	PTPRO	NM_030667.3(PTPRO):c.3222C>T:p.Asp1074=	coding	Benign
12	15589514	G	A	G15589514A	PTPRO	NM_030667.3(PTPRO):c.3470G>A:p.Arg1157Gln	coding	Benign
12	15589600	T	C	T15589600C	PTPRO	NM_030667.3(PTPRO):c.3546+10T>C	noncoding	Benign
12	15623161	C	T	C15623161T	EPS8	NM_004447.6(EPS8):c.2352G>A:p.Leu784=	coding	Benign
12	15623230	A	C	A15623230C	EPS8	NM_004447.6(EPS8):c.2283T>G:p.Asp761Glu	coding	Benign/Likely_benign
12	15624339	C	T	C15624339T	EPS8	NM_004447.6(EPS8):c.2113G>A:p.Ala705Thr	coding	Benign/Likely_benign
12	15624353	A	G	A15624353G	EPS8	NM_004447.6(EPS8):c.2099T>C:p.Ile700Thr	coding	Benign
12	15624379	T	C	T15624379C	EPS8	NM_004447.6(EPS8):c.2073A>G:p.Gln691=	coding	Benign
12	15631608	A	T	A15631608T	EPS8	NM_004447.6(EPS8):c.1878T>A:p.Pro626=	coding	Benign
12	15631647	A	G	A15631647G	EPS8	NM_004447.6(EPS8):c.1839T>C:p.Tyr613=	coding	Benign
12	15641686	T	C	T15641686C	EPS8	NM_004447.6(EPS8):c.1677+36A>G	noncoding	Benign
12	15641746	C	T	C15641746T	EPS8	NM_004447.6(EPS8):c.1653G>A:p.Ser551=	coding	Benign/Likely_benign
12	15647140	G	A	G15647140A	EPS8	NM_004447.6(EPS8):c.1555C>T:p.Arg519Cys	coding	Benign/Likely_benign
12	15647213	A	G	A15647213G	EPS8	NM_004447.6(EPS8):c.1482T>C:p.Ser494=	coding	Benign
12	15650970	A	G	A15650970G	EPS8	NM_004447.6(EPS8):c.1287T>C:p.Tyr429=	coding	Benign
12	15666451	G	A	G15666451A	EPS8	NM_004447.6(EPS8):c.588C>T:p.Pro196=	coding	Benign
12	15669381	T	C	T15669381C	EPS8	NM_004447.6(EPS8):c.516+6A>G	noncoding	Benign
12	15669817	A	G	A15669817G	EPS8	NM_004447.6(EPS8):c.213T>C:p.Thr71=	coding	Benign
12	15669833	T	C	T15669833C	EPS8	NM_004447.6(EPS8):c.205-8A>G	noncoding	Pathogenic
12	15681258	T	C	T15681258C	EPS8	NM_004447.6(EPS8):c.104A>G:p.His35Arg	coding	Benign/Likely_benign
12	15681274	G	A	G15681274A	EPS8	NM_004447.6(EPS8):c.88C>T:p.Gln30Ter	coding	Pathogenic
12	18688215	T	A	T18688215A	PLCZ1	NM_033123.4(PLCZ1):c.1465A>T:p.Ile489Phe	coding	Pathogenic
12	18699920	A	G	A18699920G	PLCZ1	NM_033123.4(PLCZ1):c.1048T>C:p.Ser350Pro	coding	Pathogenic
12	18705294	G	A	G18705294A	PLCZ1	NM_033123.4(PLCZ1):c.736C>T:p.Leu246Phe	coding	Pathogenic
12	18712968	G	T	G18712968T	PLCZ1	NM_033123.4(PLCZ1):c.588C>A:p.Cys196Ter	coding	Pathogenic
12	19274579	A	G	A19274579G	PLEKHA5	NM_001256470.2(PLEKHA5):c.909A>G:p.Arg303=	coding	Benign
12	19314828	A	G	A19314828G	PLEKHA5	NM_001256470.2(PLEKHA5):c.2052A>G:p.Glu684=	coding	Benign
12	20369515	G	A	G20369515A	PDE3A	NM_000921.4(PDE3A):c.231G>A:p.Leu77=	coding	Benign
12	20369580	A	C	A20369580C	PDE3A	NM_000921.4(PDE3A):c.296A>C:p.Glu99Ala	coding	Benign
12	20369602	A	G	A20369602G	PDE3A	NM_000921.4(PDE3A):c.318A>G:p.Gly106=	coding	Benign
12	20369862	T	C	T20369862C	PDE3A	NM_000921.4(PDE3A):c.578T>C:p.Val193Ala	coding	Benign
12	20369944	G	T	G20369944T	PDE3A	NM_000921.4(PDE3A):c.660G>T:p.Ala220=	coding	Benign
12	20616293	A	G	A20616293G	PDE3A	NM_000921.4(PDE3A):c.1333A>G:p.Thr445Ala	coding	Pathogenic
12	20616294	C	A	C20616294A	PDE3A	NM_000921.4(PDE3A):c.1334C>A:p.Thr445Asn	coding	Pathogenic
12	20616294	C	G	C20616294G	PDE3A	NM_000921.4(PDE3A):c.1334C>G:p.Thr445Ser	coding	Pathogenic
12	20616299	G	A	G20616299A	PDE3A	NM_000921.4(PDE3A):c.1339G>A:p.Ala447Thr	coding	Pathogenic
12	20616300	C	T	C20616300T	PDE3A	NM_000921.4(PDE3A):c.1340C>T:p.Ala447Val	coding	Pathogenic
12	20616306	G	A	G20616306A	PDE3A	NM_000921.5(PDE3A):c.1346G>A:p.Gly449Asp	coding	Pathogenic
12	20616306	G	T	G20616306T	PDE3A	NM_000921.4(PDE3A):c.1346G>T:p.Gly449Val	coding	Pathogenic
12	20616336	G	A	G20616336A	PDE3A	NM_000921.4(PDE3A):c.1376G>A:p.Arg459Gln	coding	Benign
12	20621361	A	G	A20621361G	PDE3A	NM_000921.4(PDE3A):c.1490A>G:p.Tyr497Cys	coding	Benign
12	20621383	T	C	T20621383C	PDE3A	NM_000921.4(PDE3A):c.1512T>C:p.His504=	coding	Benign
12	20633711	C	T	C20633711T	PDE3A	NM_000921.4(PDE3A):c.1779C>T:p.Ser593=	coding	Benign
12	20633733	C	A	C20633733A	PDE3A	NM_000921.4(PDE3A):c.1801C>A:p.Pro601Thr	coding	Benign
12	20637092	C	T	C20637092T	PDE3A	NM_000921.4(PDE3A):c.2002-8C>T	noncoding	Benign
12	20648690	G	C	G20648690C	PDE3A	NM_000921.4(PDE3A):c.2568G>C:p.Ala856=	coding	Benign
12	20648864	T	C	T20648864C	PDE3A	NM_000921.4(PDE3A):c.2742T>C:p.Phe914=	coding	Benign
12	20654195	T	C	T20654195C	PDE3A	NM_000921.4(PDE3A):c.3174T>C:p.Asn1058=	coding	Benign
12	20723234	C	T	C20723234T	SLCO1C1	NM_001145944.1(SLCO1C1):c.812C>T:p.Ser271Phe	coding	Benign
12	20733007	T	C	T20733007C	SLCO1C1	NM_001145944.1(SLCO1C1):c.931T>C:p.Leu311=	coding	Benign
12	20740175	G	T	G20740175T	SLCO1C1	NM_001145944.1(SLCO1C1):c.1195-9G>T	noncoding	Benign
12	20740325	A	G	A20740325G	SLCO1C1	NM_001145944.1(SLCO1C1):c.1336A>G:p.Thr446Ala	coding	Benign
12	20810704	G	A	G20810704A	SLCO1B3	NM_019844.3(SLCO1B3):c.-241G>A	noncoding	Benign
12	20813517	T	G	T20813517G	SLCO1B3	NM_019844.4(SLCO1B3):c.-180-7T>G	noncoding	Benign
12	20813614	C	T	C20813614T	SLCO1B3	NM_019844.4(SLCO1B3):c.-90C>T	noncoding	Benign
12	20815807	C	T	C20815807T	SLCO1B3	NM_019844.4(SLCO1B3):c.69C>T:p.Arg23=	coding	Benign
12	20855051	C	G	C20855051G	SLCO1B3	NM_019844.4(SLCO1B3):c.108C>G:p.Phe36Leu	coding	Benign
12	20858546	T	G	T20858546G	SLCO1B3	NM_019844.4(SLCO1B3):c.334T>G:p.Ser112Ala	coding	Benign
12	20858547	C	A	C20858547A	SLCO1B3	NM_019844.4(SLCO1B3):c.335C>A:p.Ser112Tyr	coding	Benign
12	20861014	C	T	C20861014T	SLCO1B3	NM_019844.4(SLCO1B3):c.360-3C>T	noncoding	Benign
12	20861091	A	G	A20861091G	SLCO1B3	NM_019844.4(SLCO1B3):c.434A>G:p.Asn145Ser	coding	Benign
12	20861096	A	G	A20861096G	SLCO1B3	NM_019844.4(SLCO1B3):c.439A>G:p.Thr147Ala	coding	Benign
12	20862803	C	G	C20862803G	SLCO1B3	NM_019844.4(SLCO1B3):c.676C>G:p.Leu226Val	coding	Benign
12	20862826	G	A	G20862826A	SLCO1B3	NM_019844.4(SLCO1B3):c.699G>A:p.Met233Ile	coding	Benign
12	20875266	T	A	T20875266A	SLCO1B3	NM_019844.4(SLCO1B3):c.759T>A:p.Arg253=	coding	Benign
12	20875274	G	C	G20875274C	SLCO1B3	NM_019844.4(SLCO1B3):c.767G>C:p.Gly256Ala	coding	Benign
12	20875308	A	G	A20875308G	SLCO1B3	NM_019844.4(SLCO1B3):c.801A>G:p.Leu267=	coding	Benign
12	20880870	A	G	A20880870G	SLCO1B3	NM_019844.4(SLCO1B3):c.1347A>G:p.Ala449=	coding	Benign/Likely_benign
12	20883477	A	G	A20883477G	SLCO1B3	NM_019844.4(SLCO1B3):c.1557A>G:p.Ala519=	coding	Benign
12	20901435	G	A	G20901435A	SLCO1B3	NM_019844.4(SLCO1B3):c.1833G>A:p.Gly611=	coding	Benign
12	20901459	A	T	A20901459T	SLCO1B3	NM_019844.4(SLCO1B3):c.1857A>T:p.Val619=	coding	Benign
12	20916115	G	A	G20916115A	SLCO1B3	NM_019844.4(SLCO1B3):c.1977G>A:p.Ser659=	coding	Benign
12	20916795	A	T	A20916795T	SLCO1B3	NM_019844.4(SLCO1B3):c.*548A>T	noncoding	Benign
12	20916874	G	A	G20916874A	SLCO1B3	NM_019844.4(SLCO1B3):c.*627G>A	noncoding	Benign
12	20916889	G	A	G20916889A	SLCO1B3	NM_019844.4(SLCO1B3):c.*642G>A	noncoding	Benign
12	21043477	A	G	A21043477G	SLCO1B7	NM_001009562.4(SLCO1B7):c.730A>G:p.Lys244Glu	coding	Benign
12	21076479	G	A	G21076479A	SLCO1B7	NM_001009562.4(SLCO1B7):c.1634G>A:p.Gly545Glu	coding	Benign
12	21176827	G	A	G21176827A	SLCO1B1	NM_006446.5(SLCO1B1):c.411G>A:p.Ser137=	coding	Benign
12	21176868	A	G	A21176868G	SLCO1B1	NM_006446.5(SLCO1B1):c.452A>G:p.Asn151Ser	coding	Benign
12	21176879	C	A	C21176879A	SLCO1B1	NM_006446.5(SLCO1B1):c.463C>A:p.Pro155Thr	coding	Benign
12	21178665	T	C	T21178665C	SLCO1B1	NM_006446.5(SLCO1B1):c.571T>C:p.Leu191=	coding	Benign
12	21178691	C	T	C21178691T	SLCO1B1	NM_006446.5(SLCO1B1):c.597C>T:p.Phe199=	coding	Benign
12	21196951	A	G	A21196951G	SLCO1B1	NM_006446.5(SLCO1B1):c.733A>G:p.Ile245Val	coding	Benign
12	21196975	C	T	C21196975T	SLCO1B1	NM_006446.5(SLCO1B1):c.757C>T:p.Arg253Ter	coding	Pathogenic
12	21197100	G	A	G21197100A	SLCO1B1	NM_006446.5(SLCO1B1):c.882G>A:p.Leu294=	coding	Benign
12	21200544	C	G	C21200544G	SLCO1B1	NM_006446.5(SLCO1B1):c.1007C>G:p.Pro336Arg	coding	Benign
12	21200623	C	T	C21200623T	SLCO1B1	NM_006446.5(SLCO1B1):c.1086C>T:p.Tyr362=	coding	Benign
12	21202555	C	G	C21202555G	SLCO1B1	NM_006446.5(SLCO1B1):c.1200C>G:p.Phe400Leu	coding	Benign
12	21202603	G	A	G21202603A	SLCO1B1	NM_006446.5(SLCO1B1):c.1248G>A:p.Val416=	coding	Benign
12	21205988	C	T	C21205988T	SLCO1B1	NM_006446.5(SLCO1B1):c.1452C>T:p.Pro484=	coding	Benign
12	21206031	A	G	A21206031G	SLCO1B1	NM_006446.5(SLCO1B1):c.1495A>G:p.Ile499Val	coding	Benign
12	21217107	A	G	A21217107G	SLCO1B1	NM_006446.5(SLCO1B1):c.1498-12A>G	noncoding	Benign
12	21239042	A	C	A21239042C	SLCO1B1	NM_006446.5(SLCO1B1):c.1929A>C:p.Leu643Phe	coding	Benign
12	21239229	C	G	C21239229G	SLCO1B1	NM_006446.5(SLCO1B1):c.*40C>G	noncoding	Benign
12	21239235	T	G	T21239235G	SLCO1B1	NM_006446.5(SLCO1B1):c.*46T>G	noncoding	Benign
12	21239310	G	C	G21239310C	SLCO1B1	NM_006446.5(SLCO1B1):c.*121G>C	noncoding	Benign
12	21239356	T	C	T21239356C	SLCO1B1	NM_006446.5(SLCO1B1):c.*167T>C	noncoding	Benign
12	21239628	T	G	T21239628G	SLCO1B1	NM_006446.5(SLCO1B1):c.*439T>G	noncoding	Benign
12	21239638	A	C	A21239638C	SLCO1B1	NM_006446.5(SLCO1B1):c.*449A>C	noncoding	Benign
12	21239652	A	G	A21239652G	SLCO1B1	NM_006446.5(SLCO1B1):c.*463A>G	noncoding	Benign
12	21300490	G	A	G21300490A	SLCO1A2	NM_021094.4(SLCO1A2):c.768C>T:p.Asn256=	coding	Benign
12	21306942	T	A	T21306942A	SLCO1A2	NM_021094.4(SLCO1A2):c.382A>T:p.Asn128Tyr	coding	Benign
12	21445337	A	G	A21445337G	PYROXD1	NM_024854.5(PYROXD1):c.166-10A>G	noncoding	Benign
12	21445467	G	A	G21445467A	PYROXD1	NM_024854.5(PYROXD1):c.285+1G>A	coding	Pathogenic
12	21449692	G	A	G21449692A	PYROXD1	NM_024854.5(PYROXD1):c.414+1G>A	coding	Pathogenic
12	21452130	A	G	A21452130G	PYROXD1	NM_024854.5(PYROXD1):c.464A>G:p.Asn155Ser	coding	Pathogenic
12	21455198	C	T	C21455198T	PYROXD1	NM_024854.5(PYROXD1):c.555C>T:p.Phe185=	coding	Benign
12	21461108	G	C	G21461108C	PYROXD1	NM_024854.5(PYROXD1):c.834G>C:p.Lys278Asn	coding	Benign
12	21462002	T	G	T21462002G	PYROXD1	NM_024854.5(PYROXD1):c.881-6T>G	noncoding	Benign
12	21462862	G	C	G21462862C	PYROXD1	NM_024854.5(PYROXD1):c.1116G>C:p.Gln372His	coding	Pathogenic
12	21467522	A	C	A21467522C	PYROXD1	NM_024854.5(PYROXD1):c.1158A>C:p.Ala386=	coding	Benign
12	21470245	T	C	T21470245C	RECQL	NM_002907.4(RECQL):c.1899A>G:p.Gln633=	coding	Benign
12	21470350	C	A	C21470350A	RECQL	NM_002907.4(RECQL):c.1798-4G>T	coding	Benign
12	21470577	A	G	A21470577G	RECQL	NM_002907.4(RECQL):c.1798-231T>C	coding	Benign
12	21471035	A	G	A21471035G	RECQL	NM_002907.4(RECQL):c.1731T>C:p.Asn577=	coding	Benign
12	21471375	A	T	A21471375T	RECQL	NM_002907.4(RECQL):c.1667+53T>A	noncoding	Benign
12	21471612	C	G	C21471612G	RECQL	NM_002907.4(RECQL):c.1483G>C:p.Asp495His	coding	Benign/Likely_benign
12	21471635	T	G	T21471635G	RECQL	NM_002907.4(RECQL):c.1460A>C:p.Lys487Thr	coding	Benign
12	21474623	A	C	A21474623C	RECQL	NM_002907.4(RECQL):c.1355+218T>G	noncoding	Benign
12	21474738	C	G	C21474738G	RECQL	NM_002907.4(RECQL):c.1355+103G>C	noncoding	Benign
12	21474811	A	G	A21474811G	RECQL	NM_002907.4(RECQL):c.1355+30T>C	noncoding	Benign
12	21475386	C	T	C21475386T	RECQL	NM_002907.4(RECQL):c.1216+82G>A	noncoding	Benign
12	21475402	G	A	G21475402A	RECQL	NM_002907.4(RECQL):c.1216+66C>T	noncoding	Benign
12	21475857	T	C	T21475857C	RECQL	NM_002907.4(RECQL):c.950-33A>G	noncoding	Benign
12	21475878	G	A	G21475878A	RECQL	NM_002907.4(RECQL):c.950-54C>T	noncoding	Benign
12	21476721	T	C	T21476721C	RECQL	NM_002907.4(RECQL):c.949+190A>G	noncoding	Benign
12	21476742	C	A	C21476742A	RECQL	NM_002907.4(RECQL):c.949+169G>T	noncoding	Benign
12	21477053	T	C	T21477053C	RECQL	NM_002907.4(RECQL):c.868-61A>G	noncoding	Benign
12	21477837	G	C	G21477837C	RECQL	NM_002907.4(RECQL):c.833C>G:p.Thr278Arg	coding	Benign
12	21486260	T	C	T21486260C	RECQL	NM_002907.4(RECQL):c.501+219A>G	noncoding	Benign
12	21486464	G	A	G21486464A	RECQL	NM_002907.4(RECQL):c.501+15C>T	noncoding	Benign
12	21486592	G	A	G21486592A	RECQL	NM_002907.4(RECQL):c.395-7C>T	noncoding	Benign
12	21490105	T	C	T21490105C	RECQL	NM_002907.4(RECQL):c.394+94A>G	noncoding	Benign
12	21490289	C	T	C21490289T	RECQL	NM_002907.4(RECQL):c.304G>A:p.Val102Ile	coding	Benign
12	21491732	C	G	C21491732G	RECQL	NM_002907.4(RECQL):c.17-16G>C	noncoding	Benign
12	21491733	G	A	G21491733A	RECQL	NM_002907.4(RECQL):c.17-17C>T	noncoding	Benign
12	21491888	G	A	G21491888A	RECQL	NM_002907.4(RECQL):c.17-172C>T	noncoding	Benign
12	21499707	G	A	G21499707A	RECQL	NM_002907.4(RECQL):c.-45-92C>T	noncoding	Benign
12	21501331	G	A	G21501331A	RECQL	NM_002907.4(RECQL):c.-207C>T	noncoding	Benign
12	21501473	G	A	G21501473A	RECQL	NM_002907.4(RECQL):c.-349C>T	noncoding	Benign
12	21501535	T	G	T21501535G	RECQL	NM_002907.4(RECQL):c.-411A>C	noncoding	Benign
12	21536664	C	A	C21536664A	GYS2	NM_021957.4(GYS2):c.*290G>T	noncoding	Benign
12	21536802	G	A	G21536802A	GYS2	NM_021957.4(GYS2):c.*152C>T	noncoding	Benign
12	21536948	T	A	T21536948A	GYS2	NM_021957.4(GYS2):c.*6A>T	noncoding	Benign
12	21536999	G	A	G21536999A	GYS2	NM_021957.4(GYS2):c.2067C>T:p.His689=	coding	Benign
12	21537012	A	G	A21537012G	GYS2	NM_021957.4(GYS2):c.2054T>C:p.Phe685Ser	coding	Benign/Likely_benign
12	21537061	C	T	C21537061T	GYS2	NM_021957.4(GYS2):c.2005G>A:p.Asp669Asn	coding	Benign
12	21537101	C	G	C21537101G	GYS2	NM_021957.4(GYS2):c.1965G>C:p.Gln655His	coding	Benign
12	21539259	G	A	G21539259A	GYS2	NM_021957.4(GYS2):c.1889C>T:p.Thr630Met	coding	Benign/Likely_benign
12	21539276	T	C	T21539276C	GYS2	NM_021957.4(GYS2):c.1872A>G:p.Glu624=	coding	Benign
12	21540452	A	G	A21540452G	GYS2	NM_021957.4(GYS2):c.1767T>C:p.Thr589=	coding	Benign/Likely_benign
12	21540518	C	T	C21540518T	GYS2	NM_021957.4(GYS2):c.1701G>A:p.Leu567=	coding	Benign/Likely_benign
12	21542505	T	C	T21542505C	GYS2	NM_021957.4(GYS2):c.1636A>G:p.Thr546Ala	coding	Benign
12	21542588	T	G	T21542588G	GYS2	NM_021957.4(GYS2):c.1553A>C:p.Glu518Ala	coding	Benign/Likely_benign
12	21546429	T	C	T21546429C	GYS2	NM_021957.4(GYS2):c.1464A>G:p.Leu488=	coding	Benign
12	21546446	A	G	A21546446G	GYS2	NM_021957.4(GYS2):c.1447T>C:p.Ser483Pro	coding	Pathogenic
12	21546491	T	C	T21546491C	GYS2	NM_021957.4(GYS2):c.1423-21A>G	noncoding	Benign
12	21558177	G	C	G21558177C	GYS2	NM_021957.4(GYS2):c.1422+23C>G	noncoding	Benign
12	21558233	A	G	A21558233G	GYS2	NM_021957.4(GYS2):c.1389T>C:p.Ile463=	coding	Benign
12	21558286	G	C	G21558286C	GYS2	NM_021957.4(GYS2):c.1336C>G:p.His446Asp	coding	Pathogenic
12	21559154	G	C	G21559154C	GYS2	NM_021957.4(GYS2):c.1245C>G:p.Asp415Glu	coding	Benign
12	21559611	A	G	A21559611G	GYS2	NM_021957.4(GYS2):c.1229+40T>C	noncoding	Benign
12	21559640	C	T	C21559640T	GYS2	NM_021957.4(GYS2):c.1229+11G>A	noncoding	Benign
12	21560374	T	A	T21560374A	GYS2	NM_021957.4(GYS2):c.1169+12A>T	noncoding	Benign
12	21560399	G	A	G21560399A	GYS2	NM_021957.4(GYS2):c.1156C>T:p.Arg386Ter	coding	Pathogenic
12	21560468	T	C	T21560468C	GYS2	NM_021957.4(GYS2):c.1087A>G:p.Met363Val	coding	Benign
12	21563055	C	T	C21563055T	GYS2	NM_021957.4(GYS2):c.942-17G>A	noncoding	Benign
12	21563227	C	G	C21563227G	GYS2	NM_021957.4(GYS2):c.941+1G>C	noncoding	Pathogenic
12	21563244	G	A	G21563244A	GYS2	NM_021957.4(GYS2):c.925C>T:p.Arg309Ter	coding	Pathogenic
12	21568952	G	A	G21568952A	GYS2	NM_021957.4(GYS2):c.736C>T:p.Arg246Ter	coding	Pathogenic/Likely_pathogenic
12	21574207	G	A	G21574207A	GYS2	NM_021957.4(GYS2):c.615C>T:p.His205=	coding	Benign/Likely_benign
12	21574245	C	T	C21574245T	GYS2	NM_021957.4(GYS2):c.577G>A:p.Ala193Thr	coding	Benign
12	21574248	G	A	G21574248A	GYS2	NM_021957.4(GYS2):c.574C>T:p.Arg192Ter	coding	Pathogenic/Likely_pathogenic
12	21574275	G	A	G21574275A	GYS2	NM_021957.4(GYS2):c.547C>T:p.Gln183Ter	coding	Pathogenic
12	21575865	C	A	C21575865A	GYS2	NM_021957.4(GYS2):c.495+1G>T	noncoding	Pathogenic
12	21575940	C	T	C21575940T	GYS2	NM_021957.4(GYS2):c.421G>A:p.Gly141Ser	coding	Benign/Likely_benign
12	21576074	A	G	A21576074G	GYS2	NM_021957.4(GYS2):c.304-17T>C	noncoding	Benign
12	21580365	C	T	C21580365T	GYS2	NM_021957.4(GYS2):c.280G>A:p.Ala94Thr	coding	Benign
12	21604477	T	C	T21604477C	GYS2	NM_021957.4(GYS2):c.116A>G:p.Asn39Ser	coding	Pathogenic
12	21635668	T	C	T21635668C	LDHB	NM_002300.7(LDHB):c.879A>G:p.Pro293=	coding	Benign
12	21638338	T	C	T21638338C	LDHB	NM_002300.7(LDHB):c.713+15A>G	noncoding	Benign
12	21642112	C	T	C21642112T	LDHB	NM_002300.7(LDHB):c.435G>A:p.Thr145=	coding	Benign
12	21643922	T	C	T21643922C	LDHB	NM_002300.8(LDHB):c.421+13A>G	noncoding	Benign
12	21657825	C	G	C21657825G	LDHB	NM_002300.7(LDHB):c.-81G>C	noncoding	Benign
12	21765733	G	A	G21765733A	KCNJ8	NM_004982.4(KCNJ8):c.1265C>T:p.Ser422Leu	coding	Benign/Likely_benign
12	21765997	A	G	A21765997G	KCNJ8	NM_004982.4(KCNJ8):c.1001T>C:p.Val334Ala	coding	Benign
12	21766101	C	T	C21766101T	KCNJ8	NM_004982.4(KCNJ8):c.897G>A:p.Val299=	coding	Benign/Likely_benign
12	21766143	C	T	C21766143T	KCNJ8	NM_004982.4(KCNJ8):c.855G>A:p.Leu285=	coding	Benign
12	21766205	A	G	A21766205G	KCNJ8	NM_004982.4(KCNJ8):c.793T>C:p.Leu265=	coding	Benign
12	21766527	C	T	C21766527T	KCNJ8	NM_004982.4(KCNJ8):c.471G>A:p.Thr157=	coding	Benign/Likely_benign
12	21773326	G	C	G21773326C	KCNJ8	NM_004982.4(KCNJ8):c.291C>G:p.Ala97=	coding	Benign
12	21773506	G	A	G21773506A	KCNJ8	NM_004982.4(KCNJ8):c.111C>T:p.Ile37=	coding	Benign
12	21773656	C	T	C21773656T	KCNJ8	NM_004982.4(KCNJ8):c.-40G>A	noncoding	Benign
12	21773682	T	A	T21773682A	KCNJ8	NM_004982.4(KCNJ8):c.-66A>T	noncoding	Benign
12	21774552	C	T	C21774552T	KCNJ8	NM_004982.4(KCNJ8):c.-77G>A	noncoding	Benign
12	21801025	A	G	A21801025G	ABCC9	NM_020297.3(ABCC9):c.*19T>C	noncoding	Benign
12	21801157	C	T	C21801157T	ABCC9	NM_020297.3(ABCC9):c.4537G>A:p.Ala1513Thr	coding	Pathogenic
12	21805465	G	C	G21805465C	ABCC9	NM_020297.3(ABCC9):c.4512+533C>G	noncoding	Benign
12	21805982	G	A	G21805982A	ABCC9	NM_020297.3(ABCC9):c.4512+16C>T	noncoding	Benign
12	21807142	G	A	G21807142A	ABCC9	NM_020297.3(ABCC9):c.4449+204C>T	noncoding	Benign
12	21809841	A	G	A21809841G	ABCC9	NM_020297.3(ABCC9):c.4315+11T>C	noncoding	Benign
12	21809973	T	G	T21809973G	ABCC9	NM_001377273.1(ABCC9):c.4212-18A>C	noncoding	Benign
12	21810084	C	A	C21810084A	ABCC9	NM_020297.3(ABCC9):c.4212-129G>T	noncoding	Benign
12	21812236	T	C	T21812236C	ABCC9	NM_020297.3(ABCC9):c.4103-79A>G	noncoding	Benign
12	21816963	G	A	G21816963A	ABCC9	NM_020297.3(ABCC9):c.3892+224C>T	noncoding	Benign
12	21817085	C	T	C21817085T	ABCC9	NM_020297.3(ABCC9):c.3892+102G>A	noncoding	Benign
12	21818345	C	A	C21818345A	ABCC9	NM_020297.3(ABCC9):c.3670-94G>T	noncoding	Benign
12	21829347	A	G	A21829347G	ABCC9	NM_020297.3(ABCC9):c.3567-287T>C	noncoding	Benign
12	21829393	A	G	A21829393G	ABCC9	NM_020297.3(ABCC9):c.3567-333T>C	noncoding	Benign
12	21842326	C	T	C21842326T	ABCC9	NM_020297.3(ABCC9):c.3461G>A:p.Arg1154Gln	coding	Pathogenic
12	21842327	G	A	G21842327A	ABCC9	NM_005691.3(ABCC9):c.3460C>T:p.Arg1154Trp	coding	Pathogenic
12	21842327	G	C	G21842327C	ABCC9	NM_005691.3(ABCC9):c.3460C>G:p.Arg1154Gly	coding	Pathogenic
12	21842378	C	T	C21842378T	ABCC9	NM_005691.3(ABCC9):c.3409G>A:p.Val1137Ile	coding	Benign/Likely_benign
12	21842440	C	T	C21842440T	ABCC9	NM_005691.3(ABCC9):c.3347G>A:p.Arg1116His	coding	Pathogenic
12	21842441	G	A	G21842441A	ABCC9	NM_005691.3(ABCC9):c.3346C>T:p.Arg1116Cys	coding	Pathogenic/Likely_pathogenic
12	21842466	G	A	G21842466A	ABCC9	NM_005691.3(ABCC9):c.3321C>T:p.Ile1107=	coding	Benign/Likely_benign
12	21844187	G	C	G21844187C	ABCC9	NM_020297.3(ABCC9):c.3315+296C>G	noncoding	Benign
12	21844466	G	A	G21844466A	ABCC9	NM_020297.3(ABCC9):c.3315+17C>T	noncoding	Benign
12	21844531	C	T	C21844531T	ABCC9	NM_005691.3(ABCC9):c.3267G>A:p.Leu1089=	coding	Benign
12	21844884	C	T	C21844884T	ABCC9	NM_005691.3(ABCC9):c.3128G>A:p.Cys1043Tyr	coding	Pathogenic
12	21845590	G	A	G21845590A	ABCC9	NM_020297.3(ABCC9):c.3096+13C>T	noncoding	Benign/Likely_benign
12	21845641	A	G	A21845641G	ABCC9	NM_005691.3(ABCC9):c.3058T>C:p.Ser1020Pro	coding	Pathogenic
12	21845669	A	G	A21845669G	ABCC9	NM_005691.3(ABCC9):c.3030T>C:p.Ala1010=	coding	Benign/Likely_benign
12	21846174	T	G	T21846174G	ABCC9	NM_020297.3(ABCC9):c.2867-342A>C	noncoding	Benign
12	21848438	G	A	G21848438A	ABCC9	NM_020297.3(ABCC9):c.2770-192C>T	noncoding	Benign
12	21852069	T	G	T21852069G	ABCC9	NM_020297.3(ABCC9):c.2769+28A>C	noncoding	Benign
12	21852103	T	C	T21852103C	ABCC9	NM_005691.3(ABCC9):c.2763A>G:p.Leu921=	coding	Benign
12	21852233	C	T	C21852233T	ABCC9	NM_005691.3(ABCC9):c.2644-11G>A	noncoding	Benign/Likely_benign
12	21852241	C	T	C21852241T	ABCC9	NM_005691.4(ABCC9):c.2644-19G>A	noncoding	Benign
12	21852324	G	T	G21852324T	ABCC9	NM_020297.3(ABCC9):c.2643+44C>A	noncoding	Benign
12	21852351	C	G	C21852351G	ABCC9	NM_020297.3(ABCC9):c.2643+17G>C	noncoding	Benign
12	21852380	C	T	C21852380T	ABCC9	NM_005691.3(ABCC9):c.2631G>A:p.Thr877=	coding	Benign/Likely_benign
12	21852837	A	G	A21852837G	ABCC9	NM_020297.3(ABCC9):c.2506-332T>C	noncoding	Benign
12	21859616	C	T	C21859616T	ABCC9	NM_020297.3(ABCC9):c.2475G>A:p.Ala825=	coding	Benign/Likely_benign
12	21860962	A	G	A21860962G	ABCC9	NM_005691.3(ABCC9):c.2424+9T>C	noncoding	Benign/Likely_benign
12	21862834	G	A	G21862834A	ABCC9	NM_020297.3(ABCC9):c.2339+119C>T	noncoding	Benign
12	21864223	G	C	G21864223C	ABCC9	NM_020297.3(ABCC9):c.2237+216C>G	noncoding	Benign
12	21882491	A	G	A21882491G	ABCC9	NM_020297.3(ABCC9):c.2019+275T>C	noncoding	Benign
12	21882939	C	T	C21882939T	ABCC9	NM_020297.3(ABCC9):c.1912-66G>A	noncoding	Benign
12	21883107	A	G	A21883107G	ABCC9	NM_020297.3(ABCC9):c.1912-234T>C	noncoding	Benign
12	21887889	G	A	G21887889A	ABCC9	NM_005691.3(ABCC9):c.1848C>T:p.Asp616=	coding	Benign/Likely_benign
12	21894157	C	T	C21894157T	ABCC9	NM_005691.3(ABCC9):c.1677G>A:p.Ala559=	coding	Benign
12	21894217	G	T	G21894217T	ABCC9	NM_020297.3(ABCC9):c.1660-43C>A	noncoding	Benign
12	21908099	G	A	G21908099A	ABCC9	NM_005691.3(ABCC9):c.1433C>T:p.Ala478Val	coding	Pathogenic
12	21908498	T	C	T21908498C	ABCC9	NM_020297.3(ABCC9):c.1321-287A>G	noncoding	Benign
12	21910277	C	T	C21910277T	ABCC9	NM_005691.3(ABCC9):c.1200G>A:p.Thr400=	coding	Benign/Likely_benign
12	21910741	A	T	A21910741T	ABCC9	NM_020297.3(ABCC9):c.1164+85T>A	noncoding	Benign
12	21910934	G	A	G21910934A	ABCC9	NM_005691.3(ABCC9):c.1056C>T:p.Tyr352=	coding	Benign
12	21910940	G	A	G21910940A	ABCC9	NM_005691.3(ABCC9):c.1050C>T:p.Asn350=	coding	Benign
12	21911254	T	C	T21911254C	ABCC9	NM_020297.3(ABCC9):c.1012-276A>G	noncoding	Benign
12	21912959	A	G	A21912959G	ABCC9	NM_020297.3(ABCC9):c.924T>C:p.Asp308=	coding	Benign
12	21913083	G	A	G21913083A	ABCC9	NM_020297.3(ABCC9):c.817-17C>T	noncoding	Benign
12	21913246	C	T	C21913246T	ABCC9	NM_020297.3(ABCC9):c.817-180G>A	noncoding	Benign
12	21915686	A	G	A21915686G	ABCC9	NM_020297.3(ABCC9):c.798T>C:p.Asp266=	coding	Benign/Likely_benign
12	21915695	G	A	G21915695A	ABCC9	NM_005691.3(ABCC9):c.789C>T:p.Cys263=	coding	Benign/Likely_benign
12	21915915	G	T	G21915915T	ABCC9	NM_005691.3(ABCC9):c.574-5C>A	noncoding	Benign
12	21916180	G	T	G21916180T	ABCC9	NM_020297.3(ABCC9):c.574-270C>A	noncoding	Benign
12	21917297	T	C	T21917297C	ABCC9	NM_020297.3(ABCC9):c.407-194A>G	noncoding	Benign
12	21925622	T	C	T21925622C	ABCC9	NM_020297.3(ABCC9):c.406+320A>G	noncoding	Benign
12	21925637	T	A	T21925637A	ABCC9	NM_020297.3(ABCC9):c.406+305A>T	noncoding	Benign
12	21925904	T	G	T21925904G	ABCC9	NM_020297.3(ABCC9):c.406+38A>C	noncoding	Benign
12	21926079	C	T	C21926079T	ABCC9	NM_020297.3(ABCC9):c.285-16G>A	noncoding	Benign
12	21926329	T	C	T21926329C	ABCC9	NM_020297.3(ABCC9):c.285-266A>G	noncoding	Benign
12	21926384	G	A	G21926384A	ABCC9	NM_020297.3(ABCC9):c.285-321C>T	noncoding	Benign
12	21933888	G	A	G21933888A	ABCC9	NM_005691.3(ABCC9):c.178C>T:p.His60Tyr	coding	Pathogenic
12	21934224	T	C	T21934224C	ABCC9	NM_020297.3(ABCC9):c.143-301A>G	noncoding	Benign
12	22046381	G	A	G22046381A	CMAS	NM_018686.6(CMAS):c.78G>A:p.Lys26=	coding	Benign
12	22065215	C	T	C22065215T	CMAS	NM_018686.6(CMAS):c.1209C>T:p.Tyr403=	coding	Benign
12	23534432	C	T	C23534432T	SOX5	NM_006940.6(SOX5):c.2079G>A:p.Ser693=	coding	Benign
12	23536622	C	A	C23536622A	SOX5	NM_006940.6(SOX5):c.1819G>T:p.Glu607Ter	coding	Pathogenic
12	23536627	T	C	T23536627C	SOX5	NM_006940.6(SOX5):c.1814A>G:p.Tyr605Cys	coding	Pathogenic
12	23536659	C	T	C23536659T	SOX5	NM_006940.6(SOX5):c.1782G>A:p.Trp594Ter	coding	Pathogenic
12	23543369	G	C	G23543369C	SOX5	NM_006940.6(SOX5):c.1613C>G:p.Ser538Ter	coding	Pathogenic
12	23546314	A	T	A23546314T	SOX5	NM_006940.6(SOX5):c.1597+2T>A	noncoding	Pathogenic
12	23563269	G	A	G23563269A	SOX5	NM_006940.6(SOX5):c.1477C>T:p.Arg493Ter	coding	Pathogenic
12	23563335	G	A	G23563335A	SOX5	NM_006940.6(SOX5):c.1411C>T:p.Arg471Ter	coding	Pathogenic
12	23604385	A	C	A23604385C	SOX5	NM_006940.6(SOX5):c.1164+2T>G	noncoding	Pathogenic
12	23604491	C	A	C23604491A	SOX5	NM_006940.6(SOX5):c.1060G>T:p.Gly354Ter	coding	Pathogenic
12	23665443	C	G	C23665443G	SOX5	NM_006940.6(SOX5):c.931+1G>C	noncoding	Pathogenic
12	23665555	G	A	G23665555A	SOX5	NM_006940.6(SOX5):c.820C>T:p.Gln274Ter	coding	Pathogenic
12	23734699	G	A	G23734699A	SOX5	NM_006940.6(SOX5):c.795C>T:p.Leu265=	coding	Benign
12	23734744	T	C	T23734744C	SOX5	NM_006940.6(SOX5):c.750A>G:p.Arg250=	coding	Benign
12	23740957	C	T	C23740957T	SOX5	NM_006940.6(SOX5):c.651G>A:p.Leu217=	coding	Benign
12	23740971	G	A	G23740971A	SOX5	NM_006940.6(SOX5):c.637C>T:p.Arg213Ter	coding	Pathogenic/Likely_pathogenic
12	23740978	G	T	G23740978T	SOX5	NM_006940.6(SOX5):c.630C>A:p.Thr210=	coding	Benign
12	23740986	G	A	G23740986A	SOX5	NM_006940.6(SOX5):c.622C>T:p.Gln208Ter	coding	Pathogenic
12	23755648	G	A	G23755648A	SOX5	NM_006940.6(SOX5):c.558C>T:p.Gly186=	coding	Benign
12	23755687	C	T	C23755687T	SOX5	NM_006940.6(SOX5):c.519G>A:p.Trp173Ter	coding	Pathogenic
12	23755688	C	T	C23755688T	SOX5	NM_006940.6(SOX5):c.518G>A:p.Trp173Ter	coding	Pathogenic
12	23845987	C	T	C23845987T	SOX5	NM_006940.6(SOX5):c.477G>A:p.Pro159=	coding	Benign
12	23846022	G	A	G23846022A	SOX5	NM_006940.6(SOX5):c.442C>T:p.Gln148Ter	coding	Pathogenic
12	23895898	A	G	A23895898G	SOX5	NM_006940.6(SOX5):c.165T>C:p.His55=	coding	Benign
12	24901853	G	A	G24901853A	BCAT1	NM_005504.7(BCAT1):c.39C>T:p.Thr13=	coding	Benign
12	25209618	A	C	A25209618C	KRAS	NM_033360.4(KRAS):c.*298T>G	noncoding	Benign/Likely_benign
12	25209843	A	G	A25209843G	KRAS	NM_004985.5(KRAS):c.519T>C:p.Asp173=	coding	Benign
12	25209879	T	C	T25209879C	KRAS	NM_033360.4(KRAS):c.*37A>G	coding	Benign
12	25209894	G	C	G25209894C	KRAS	NM_033360.4(KRAS):c.*22C>G	coding	Pathogenic
12	25209896	A	C	A25209896C	KRAS	NM_033360.4(KRAS):c.*20T>G	coding	Pathogenic/Likely_pathogenic
12	25209896	A	T	A25209896T	KRAS	NM_033360.4(KRAS):c.*20T>A	coding	Pathogenic
12	25209904	T	A	T25209904A	KRAS	NM_004985.5(KRAS):c.458A>T:p.Asp153Val	coding	Pathogenic
12	25209904	T	C	T25209904C	KRAS	NM_004985.5(KRAS):c.458A>G:p.Asp153Gly	coding	Pathogenic/Likely_pathogenic
12	25209905	C	T	C25209905T	KRAS	NM_033360.4(KRAS):c.*11G>A	coding	Pathogenic
12	25209907	A	C	A25209907C	KRAS	NM_033360.4(KRAS):c.*9T>G	coding	Pathogenic
12	25209920	C	T	C25209920T	KRAS	NM_004985.5(KRAS):c.451-9G>A	noncoding	Benign
12	25209929	T	C	T25209929C	KRAS	NM_033360.4(KRAS):c.5-18A>G	noncoding	Benign
12	25215150	T	C	T25215150C	KRAS	NM_033360.4(KRAS):c.4+287A>G	noncoding	Benign
12	25215432	C	T	C25215432T	KRAS	NM_033360.4(KRAS):c.4+5G>A	noncoding	Benign
12	25215476	C	T	C25215476T	KRAS	NM_004985.5(KRAS):c.451-5565G>A	coding	Benign/Likely_benign
12	25215528	T	C	T25215528C	KRAS	NM_004985.5(KRAS):c.451-5617A>G	coding	Benign
12	25225624	T	C	T25225624C	KRAS	NM_033360.4(KRAS):c.440A>G:p.Lys147Arg	coding	Pathogenic
12	25225625	T	C	T25225625C	KRAS	NM_033360.4(KRAS):c.439A>G:p.Lys147Glu	coding	Pathogenic/Likely_pathogenic
12	25225627	G	A	G25225627A	KRAS	NM_033360.4(KRAS):c.437C>T:p.Ala146Val	coding	Pathogenic
12	25225628	C	G	C25225628G	KRAS	NM_033360.4(KRAS):c.436G>C:p.Ala146Pro	coding	Pathogenic/Likely_pathogenic
12	25225713	T	A	T25225713A	KRAS	NM_033360.4(KRAS):c.351A>T:p.Lys117Asn	coding	Pathogenic
12	25225713	T	G	T25225713G	KRAS	NM_033360.4(KRAS):c.351A>C:p.Lys117Asn	coding	Pathogenic
12	25227310	T	A	T25227310A	KRAS	NM_004985.5(KRAS):c.214A>T:p.Met72Leu	coding	Pathogenic
12	25227313	A	G	A25227313G	KRAS	NM_033360.4(KRAS):c.211T>C:p.Tyr71His	coding	Pathogenic
12	25227341	T	A	T25227341A	KRAS	NM_004985.5(KRAS):c.183A>T:p.Gln61His	coding	Pathogenic/Likely_pathogenic
12	25227341	T	G	T25227341G	KRAS	NM_004985.5(KRAS):c.183A>C:p.Gln61His	coding	Pathogenic/Likely_pathogenic
12	25227342	T	A	T25227342A	KRAS	NM_004985.5(KRAS):c.182A>T:p.Gln61Leu	coding	Pathogenic
12	25227342	T	G	T25227342G	KRAS	NM_033360.4(KRAS):c.182A>C:p.Gln61Pro	coding	Pathogenic/Likely_pathogenic
12	25227343	G	T	G25227343T	KRAS	NM_004985.5(KRAS):c.181C>A:p.Gln61Lys	coding	Pathogenic
12	25227345	C	A	C25227345A	KRAS	NM_004985.5(KRAS):c.179G>T:p.Gly60Val	coding	Pathogenic
12	25227346	C	G	C25227346G	KRAS	NM_004985.5(KRAS):c.178G>C:p.Gly60Arg	coding	Pathogenic
12	25227346	C	T	C25227346T	KRAS	NM_033360.4(KRAS):c.178G>A:p.Gly60Ser	coding	Pathogenic
12	25227349	C	A	C25227349A	KRAS	NM_033360.4(KRAS):c.175G>T:p.Ala59Ser	coding	Pathogenic/Likely_pathogenic
12	25227349	C	T	C25227349T	KRAS	NM_033360.4(KRAS):c.175G>A:p.Ala59Thr	coding	Pathogenic/Likely_pathogenic
12	25227351	G	A	G25227351A	KRAS	NM_004985.5(KRAS):c.173C>T:p.Thr58Ile	coding	Pathogenic
12	25245277	T	C	T25245277C	KRAS	NM_004985.5(KRAS):c.108A>G:p.Ile36Met	coding	Pathogenic/Likely_pathogenic
12	25245284	G	A	G25245284A	KRAS	NM_004985.5(KRAS):c.101C>T:p.Pro34Leu	coding	Pathogenic
12	25245284	G	C	G25245284C	KRAS	NM_004985.5(KRAS):c.101C>G:p.Pro34Arg	coding	Pathogenic/Likely_pathogenic
12	25245320	T	A	T25245320A	KRAS	NM_033360.4(KRAS):c.65A>T:p.Gln22Leu	coding	Pathogenic
12	25245320	T	C	T25245320C	KRAS	NM_004985.5(KRAS):c.65A>G:p.Gln22Arg	coding	Pathogenic
12	25245321	G	C	G25245321C	KRAS	NM_033360.4(KRAS):c.64C>G:p.Gln22Glu	coding	Pathogenic
12	25245328	C	G	C25245328G	KRAS	NM_033360.4(KRAS):c.57G>C:p.Leu19Phe	coding	Pathogenic/Likely_pathogenic
12	25245345	C	T	C25245345T	KRAS	NM_004985.5(KRAS):c.40G>A:p.Val14Ile	coding	Pathogenic
12	25245347	C	G	C25245347G	KRAS	NM_033360.4(KRAS):c.38G>C:p.Gly13Ala	coding	Pathogenic
12	25245347	C	T	C25245347T	KRAS	NM_004985.5(KRAS):c.38G>A:p.Gly13Asp	coding	Pathogenic
12	25245348	C	A	C25245348A	KRAS	NM_004985.5(KRAS):c.37G>T:p.Gly13Cys	coding	Pathogenic
12	25245348	C	G	C25245348G	KRAS	NM_004985.5(KRAS):c.37G>C:p.Gly13Arg	coding	Pathogenic
12	25245348	C	T	C25245348T	KRAS	NM_033360.4(KRAS):c.37G>A:p.Gly13Ser	coding	Pathogenic
12	25245350	C	A	C25245350A	KRAS	NM_004985.5(KRAS):c.35G>T:p.Gly12Val	coding	Pathogenic
12	25245350	C	G	C25245350G	KRAS	NM_004985.5(KRAS):c.35G>C:p.Gly12Ala	coding	Pathogenic/Likely_pathogenic
12	25245350	C	T	C25245350T	KRAS	NM_004985.5(KRAS):c.35G>A:p.Gly12Asp	coding	Pathogenic
12	25245351	C	A	C25245351A	KRAS	NM_004985.5(KRAS):c.34G>T:p.Gly12Cys	coding	Pathogenic/Likely_pathogenic
12	25245351	C	G	C25245351G	KRAS	NM_004985.5(KRAS):c.34G>C:p.Gly12Arg	coding	Pathogenic
12	25245351	C	T	C25245351T	KRAS	NM_004985.5(KRAS):c.34G>A:p.Gly12Ser	coding	Pathogenic
12	25245370	T	A	T25245370A	KRAS	NM_033360.4(KRAS):c.15A>T:p.Lys5Asn	coding	Pathogenic
12	25245370	T	G	T25245370G	KRAS	NM_033360.4(KRAS):c.15A>C:p.Lys5Asn	coding	Pathogenic
12	25245668	T	C	T25245668C	KRAS	NM_033360.4(KRAS):c.-11-273A>G	noncoding	Benign
12	25250733	G	A	G25250733A	KRAS	NM_033360.4(KRAS):c.-12+18C>T	noncoding	Benign
12	25250766	G	A	G25250766A	KRAS	NM_033360.4(KRAS):c.-27C>T	noncoding	Benign/Likely_benign
12	25250787	C	T	C25250787T	KRAS	NM_033360.4(KRAS):c.-48G>A	noncoding	Benign/Likely_benign
12	25250899	T	C	T25250899C	KRAS	NM_033360.4(KRAS):c.-160A>G	noncoding	Benign
12	26065230	G	A	G26065230A	RASSF8	NM_007211.5(RASSF8):c.836G>A:p.Arg279Gln	coding	Benign
12	26230745	C	T	C26230745T	SSPN	NM_001135823.1(SSPN):c.92C>T:p.Thr31Met	coding	Benign
12	26230857	G	A	G26230857A	SSPN	NM_001135823.1(SSPN):c.204G>A:p.Pro68=	coding	Benign
12	26230878	C	T	C26230878T	SSPN	NM_001135823.1(SSPN):c.225C>T:p.Tyr75=	coding	Benign
12	26400166	C	T	C26400166T	ITPR2	NM_002223.4(ITPR2):c.7492G>A:p.Gly2498Ser	coding	Pathogenic
12	26439219	G	C	G26439219C	ITPR2	NM_002223.4(ITPR2):c.6551C>G:p.Thr2184Ser	coding	Benign
12	26481127	C	T	C26481127T	ITPR2	NM_002223.4(ITPR2):c.6123+4G>A	noncoding	Benign
12	26486222	G	A	G26486222A	ITPR2	NM_002223.4(ITPR2):c.5693C>T:p.Ala1898Val	coding	Benign
12	26550237	A	T	A26550237T	ITPR2	NM_002223.4(ITPR2):c.5073+10T>A	noncoding	Benign
12	26556235	C	T	C26556235T	ITPR2	NM_002223.4(ITPR2):c.4962G>A:p.Ser1654=	coding	Benign
12	26580083	T	A	T26580083A	ITPR2	NM_002223.4(ITPR2):c.4453A>T:p.Asn1485Tyr	coding	Benign
12	26580084	C	A	C26580084A	ITPR2	NM_002223.4(ITPR2):c.4452G>T:p.Met1484Ile	coding	Benign
12	26599280	G	A	G26599280A	ITPR2	NM_002223.4(ITPR2):c.3867C>T:p.Ser1289=	coding	Benign
12	26656473	C	G	C26656473G	ITPR2	NM_002223.4(ITPR2):c.2268G>C:p.Leu756=	coding	Benign
12	26663846	C	T	C26663846T	ITPR2	NM_002223.4(ITPR2):c.1552G>A:p.Val518Ile	coding	Benign
12	26681900	G	A	G26681900A	ITPR2	NM_002223.4(ITPR2):c.1383C>T:p.Asn461=	coding	Benign
12	26832707	G	A	G26832707A	ITPR2	NM_002223.4(ITPR2):c.75C>T:p.Gly25=	coding	Benign
12	26995391	G	C	G26995391C	TM7SF3	NM_016551.3(TM7SF3):c.536C>G:p.Pro179Arg	coding	Benign
12	27297738	G	T	G27297738T	STK38L	NM_015000.4(STK38L):c.18G>T:p.Gly6=	coding	Benign
12	27390208	G	C	G27390208C	ARNTL2	NM_020183.5(ARNTL2):c.888G>C:p.Glu296Asp	coding	Benign
12	27710859	C	A	C27710859A	MRPS35	NM_021821.4(MRPS35):c.16C>A:p.Leu6Ile	coding	Benign
12	27710926	C	T	C27710926T	MRPS35	NM_021821.4(MRPS35):c.83C>T:p.Ser28Leu	coding	Benign
12	27755435	A	G	A27755435G	MRPS35	NM_021821.4(MRPS35):c.957A>G:p.Leu319=	coding	Benign
12	27958559	T	C	T27958559C	PTHLH	NM_198965.2(PTHLH):c.534A>G:p.Ter178Trp	coding	Pathogenic
12	27963514	T	A	T27963514A	PTHLH	NM_198965.2(PTHLH):c.358A>T:p.Lys120Ter	coding	Pathogenic
12	27963693	A	G	A27963693G	PTHLH	NM_198965.2(PTHLH):c.179T>C:p.Leu60Pro	coding	Pathogenic
12	27963741	A	G	A27963741G	PTHLH	NM_198965.2(PTHLH):c.131T>C:p.Leu44Pro	coding	Pathogenic
12	28306836	A	G	A28306836G	CCDC91	NM_018318.5(CCDC91):c.362A>G:p.Asp121Gly	coding	Benign
12	28484157	C	A	C28484157A	CCDC91	NM_018318.5(CCDC91):c.1207C>A:p.Gln403Lys	coding	Benign
12	29311020	C	T	C29311020T	FAR2	NM_001271783.2(FAR2):c.769-8C>T	noncoding	Benign
12	29332635	G	A	G29332635A	FAR2	NM_001271783.2(FAR2):c.1293G>A:p.Leu431=	coding	Benign
12	29583398	T	C	T29583398C	TMTC1	NM_001193451.2(TMTC1):c.1418+9A>G	noncoding	Benign
12	29604282	C	T	C29604282T	TMTC1	NM_001193451.2(TMTC1):c.1146G>A:p.Glu382=	coding	Benign
12	29768012	G	A	G29768012A	TMTC1	NM_001193451.2(TMTC1):c.366C>T:p.His122=	coding	Benign
12	30669174	C	T	C30669174T	IPO8	NM_006390.4(IPO8):c.1144+9G>A	noncoding	Benign
12	30674652	T	C	T30674652C	IPO8	NM_006390.4(IPO8):c.824+7A>G	noncoding	Benign
12	30713872	A	G	A30713872G	CAPRIN2	NM_001002259.2(CAPRIN2):c.2664T>C:p.Tyr888=	coding	Benign
12	30715074	C	T	C30715074T	CAPRIN2	NM_001002259.2(CAPRIN2):c.2535G>A:p.Thr845=	coding	Benign
12	30719127	A	G	A30719127G	CAPRIN2	NM_001002259.2(CAPRIN2):c.2247T>C:p.Ser749=	coding	Benign
12	30723254	G	A	G30723254A	CAPRIN2	NM_001002259.2(CAPRIN2):c.2043+5C>T	noncoding	Benign
12	30726098	A	G	A30726098G	CAPRIN2	NM_001002259.2(CAPRIN2):c.1783-10T>C	noncoding	Benign
12	30731402	A	G	A30731402G	CAPRIN2	NM_001002259.2(CAPRIN2):c.1001T>C:p.Met334Thr	coding	Benign
12	31078487	C	T	C31078487T	DDX11	NM_030653.4(DDX11):c.94C>T:p.Arg32Trp	coding	Benign
12	31083815	G	A	G31083815A	DDX11	NM_030653.4(DDX11):c.147G>A:p.Gly49=	coding	Benign
12	31083891	C	T	C31083891T	DDX11	NM_030653.4(DDX11):c.223C>T:p.Arg75Ter	coding	Pathogenic
12	31083983	G	A	G31083983A	DDX11	NM_030653.4(DDX11):c.315G>A:p.Pro105=	coding	Benign
12	31084608	G	A	G31084608A	DDX11	NM_030653.4(DDX11):c.419G>A:p.Arg140Gln	coding	Benign
12	31087928	A	T	A31087928T	DDX11	NM_030653.4(DDX11):c.639-10A>T	noncoding	Benign
12	31089147	G	A	G31089147A	DDX11	NM_030653.4(DDX11):c.788G>A:p.Arg263Gln	coding	Pathogenic
12	31089461	G	A	G31089461A	DDX11	NM_030653.4(DDX11):c.851G>A:p.Arg284His	coding	Benign
12	31093332	C	T	C31093332T	DDX11	NM_030653.4(DDX11):c.1369+8C>T	noncoding	Benign
12	31096385	T	C	T31096385C	DDX11	NM_030653.4(DDX11):c.1521+6T>C	noncoding	Benign
12	31096885	C	G	C31096885G	DDX11	NM_030653.4(DDX11):c.1657C>G:p.Gln553Glu	coding	Benign
12	31096921	C	T	C31096921T	DDX11	NM_030653.4(DDX11):c.1693C>T:p.His565Tyr	coding	Benign
12	31096926	C	T	C31096926T	DDX11	NM_030653.4(DDX11):c.1698C>T:p.Ile566=	coding	Benign
12	31096927	C	G	C31096927G	DDX11	NM_030653.4(DDX11):c.1699C>G:p.Gln567Glu	coding	Benign
12	31097884	G	C	G31097884C	DDX11	NM_030653.4(DDX11):c.1763-1G>C	noncoding	Pathogenic
12	31101095	G	T	G31101095T	DDX11	NM_030653.4(DDX11):c.2017G>T:p.Glu673Ter	coding	Pathogenic
12	31101978	A	G	A31101978G	DDX11	NM_030653.4(DDX11):c.2198A>G:p.Lys733Arg	coding	Benign
12	31102263	C	G	C31102263G	DDX11	NM_030653.4(DDX11):c.2223C>G:p.Ser741Arg	coding	Benign/Likely_benign
12	31102313	T	C	T31102313C	DDX11	NM_030653.4(DDX11):c.2271+2T>C	noncoding	Pathogenic
12	31103021	G	T	G31103021T	DDX11	NM_030653.4(DDX11):c.2457+1G>T	coding	Pathogenic
12	31103325	C	G	C31103325G	DDX11	NM_030653.4(DDX11):c.2466C>G:p.Ala822=	coding	Benign
12	31103372	T	C	T31103372C	DDX11	NM_030653.4(DDX11):c.2513T>C:p.Met838Thr	coding	Benign
12	31103612	G	A	G31103612A	DDX11	NM_030653.4(DDX11):c.2572G>A:p.Val858Ile	coding	Benign
12	31981394	C	T	C31981394T	RESF1	NM_018169.4(RESF1):c.439C>T:p.Pro147Ser	coding	Benign
12	31985391	T	C	T31985391C	RESF1	NM_018169.4(RESF1):c.4436T>C:p.Met1479Thr	coding	Benign
12	31985791	A	G	A31985791G	RESF1	NM_018169.4(RESF1):c.4836A>G:p.Arg1612=	coding	Benign
12	32107445	G	A	G32107445A	BICD1	NM_001714.4(BICD1):c.114G>A:p.Gly38=	coding	Benign
12	32216354	G	A	G32216354A	BICD1	NM_001714.4(BICD1):c.321G>A:p.Gly107=	coding	Benign
12	32328159	G	C	G32328159C	BICD1	NM_001714.4(BICD1):c.1704G>C:p.Val568=	coding	Benign
12	32328435	C	T	C32328435T	BICD1	NM_001714.4(BICD1):c.1980C>T:p.Ala660=	coding	Benign
12	32399835	C	G	C32399835G	FGD4	NM_001370298.1(FGD4):c.123C>G:p.Ile41Met	noncoding	Benign
12	32502151	C	T	C32502151T	FGD4	NM_139241.3(FGD4):c.-433C>T	coding	Benign
12	32502338	G	C	G32502338C	FGD4	NM_139241.3(FGD4):c.-246G>C	coding	Benign
12	32582302	C	G	C32582302G	FGD4	NM_139241.3(FGD4):c.435C>G:p.Asp145Glu	coding	Benign
12	32582302	C	T	C32582302T	FGD4	NM_139241.3(FGD4):c.435C>T:p.Asp145=	coding	Benign
12	32598509	C	T	C32598509T	FGD4	NM_139241.3(FGD4):c.613C>T:p.Gln205Ter	coding	Pathogenic
12	32598566	C	T	C32598566T	FGD4	NM_139241.3(FGD4):c.670C>T:p.Arg224Ter	coding	Pathogenic
12	32601319	G	A	G32601319A	FGD4	NM_139241.3(FGD4):c.732G>A:p.Ser244=	coding	Benign/Likely_benign
12	32601410	C	T	C32601410T	FGD4	NM_139241.3(FGD4):c.823C>T:p.Arg275Ter	coding	Pathogenic
12	32601433	G	T	G32601433T	FGD4	NM_139241.3(FGD4):c.836+10G>T	noncoding	Benign
12	32602012	T	G	T32602012G	FGD4	NM_139241.3(FGD4):c.837-149T>G	noncoding	Benign
12	32602124	T	A	T32602124A	FGD4	NM_139241.3(FGD4):c.837-37T>A	noncoding	Benign
12	32602209	C	T	C32602209T	FGD4	NM_139241.3(FGD4):c.885C>T:p.Phe295=	coding	Benign/Likely_benign
12	32602217	T	G	T32602217G	FGD4	NM_139241.3(FGD4):c.893T>G:p.Met298Arg	coding	Pathogenic
12	32602325	G	A	G32602325A	FGD4	NM_139241.3(FGD4):c.993+8G>A	noncoding	Benign
12	32602466	T	C	T32602466C	FGD4	NM_139241.3(FGD4):c.993+149T>C	noncoding	Benign
12	32608022	C	T	C32608022T	FGD4	NM_139241.3(FGD4):c.1059C>T:p.Pro353=	coding	Benign
12	32610540	T	G	T32610540G	FGD4	NM_139241.3(FGD4):c.1133-236T>G	noncoding	Benign
12	32610641	G	A	G32610641A	FGD4	NM_139241.3(FGD4):c.1133-135G>A	noncoding	Benign
12	32611250	G	A	G32611250A	FGD4	NM_139241.3(FGD4):c.1305G>A:p.Arg435=	coding	Benign
12	32611274	C	A	C32611274A	FGD4	NM_139241.3(FGD4):c.1329C>A:p.Tyr443Ter	coding	Pathogenic
12	32619686	C	T	C32619686T	FGD4	NM_139241.3(FGD4):c.1339-12C>T	noncoding	Benign
12	32624425	T	C	T32624425C	FGD4	NM_139241.3(FGD4):c.1515T>C:p.Ser505=	coding	Benign
12	32624428	G	A	G32624428A	FGD4	NM_139241.3(FGD4):c.1518G>A:p.Ala506=	coding	Benign
12	32624968	T	C	T32624968C	FGD4	NM_139241.3(FGD4):c.1543-8T>C	noncoding	Benign/Likely_benign
12	32624993	C	T	C32624993T	FGD4	NM_139241.3(FGD4):c.1560C>T:p.Ile520=	coding	Benign/Likely_benign
12	32625647	T	C	T32625647C	FGD4	NM_139241.3(FGD4):c.1636-7T>C	noncoding	Benign
12	32625677	C	G	C32625677G	FGD4	NM_139241.3(FGD4):c.1659C>G:p.Ala553=	coding	Benign/Likely_benign
12	32625729	C	A	C32625729A	FGD4	NM_139241.3(FGD4):c.1711C>A:p.Pro571Thr	coding	Benign/Likely_benign
12	32625747	C	T	C32625747T	FGD4	NM_139241.3(FGD4):c.1729C>T:p.Arg577Ter	coding	Pathogenic
12	32625748	G	A	G32625748A	FGD4	NM_139241.3(FGD4):c.1730G>A:p.Arg577Gln	coding	Pathogenic
12	32625774	G	T	G32625774T	FGD4	NM_139241.3(FGD4):c.1756G>T:p.Gly586Ter	coding	Pathogenic
12	32625979	G	A	G32625979A	FGD4	NM_139241.3(FGD4):c.1761+200G>A	noncoding	Benign
12	32633292	C	T	C32633292T	FGD4	NM_139241.3(FGD4):c.1762-257C>T	noncoding	Benign
12	32640040	G	A	G32640040A	FGD4	NM_139241.3(FGD4):c.2044-236G>A	noncoding	Benign
12	32640230	A	G	A32640230G	FGD4	NM_139241.3(FGD4):c.2044-46A>G	noncoding	Benign
12	32640555	G	A	G32640555A	FGD4	NM_139241.3(FGD4):c.*22G>A	noncoding	Benign
12	32640560	G	A	G32640560A	FGD4	NM_139241.3(FGD4):c.*27G>A	noncoding	Benign
12	32640823	G	A	G32640823A	FGD4	NM_139241.3(FGD4):c.*290G>A	noncoding	Benign
12	32641325	A	T	A32641325T	FGD4	NM_139241.3(FGD4):c.*792A>T	noncoding	Benign
12	32641540	G	A	G32641540A	FGD4	NM_139241.3(FGD4):c.*1007G>A	noncoding	Benign
12	32641601	A	G	A32641601G	FGD4	NM_139241.3(FGD4):c.*1068A>G	noncoding	Benign
12	32641666	A	C	A32641666C	FGD4	NM_139241.3(FGD4):c.*1133A>C	noncoding	Benign
12	32641681	C	T	C32641681T	FGD4	NM_139241.3(FGD4):c.*1148C>T	noncoding	Benign
12	32641987	A	G	A32641987G	FGD4	NM_139241.3(FGD4):c.*1454A>G	noncoding	Benign
12	32642025	T	G	T32642025G	FGD4	NM_139241.3(FGD4):c.*1492T>G	noncoding	Benign
12	32642097	T	C	T32642097C	FGD4	NM_139241.3(FGD4):c.*1564T>C	noncoding	Benign
12	32642256	C	T	C32642256T	FGD4	NM_139241.3(FGD4):c.*1723C>T	noncoding	Benign
12	32642361	A	T	A32642361T	FGD4	NM_139241.3(FGD4):c.*1828A>T	noncoding	Benign
12	32642487	A	G	A32642487G	FGD4	NM_139241.3(FGD4):c.*1954A>G	noncoding	Benign
12	32642736	T	C	T32642736C	FGD4	NM_139241.3(FGD4):c.*2203T>C	noncoding	Benign
12	32643070	C	A	C32643070A	FGD4	NM_139241.3(FGD4):c.*2537C>A	noncoding	Benign
12	32643663	G	A	G32643663A	FGD4	NM_139241.3(FGD4):c.*3130G>A	noncoding	Benign
12	32643663	G	T	G32643663T	FGD4	NM_139241.3(FGD4):c.*3130G>T	noncoding	Benign
12	32643873	A	C	A32643873C	FGD4	NM_139241.3(FGD4):c.*3340A>C	noncoding	Benign
12	32644163	T	C	T32644163C	FGD4	NM_139241.3(FGD4):c.*3630T>C	noncoding	Benign
12	32644303	G	T	G32644303T	FGD4	NM_139241.3(FGD4):c.*3770G>T	noncoding	Benign
12	32644596	A	G	A32644596G	FGD4	NM_139241.3(FGD4):c.*4063A>G	noncoding	Benign
12	32644661	C	T	C32644661T	FGD4	NM_139241.3(FGD4):c.*4128C>T	noncoding	Benign
12	32644725	G	T	G32644725T	FGD4	NM_139241.3(FGD4):c.*4192G>T	noncoding	Benign
12	32644744	T	C	T32644744C	FGD4	NM_139241.3(FGD4):c.*4211T>C	noncoding	Benign
12	32644971	A	G	A32644971G	FGD4	NM_139241.3(FGD4):c.*4438A>G	noncoding	Benign
12	32644987	G	A	G32644987A	FGD4	NM_139241.3(FGD4):c.*4454G>A	noncoding	Benign
12	32645185	T	C	T32645185C	FGD4	NM_139241.3(FGD4):c.*4652T>C	noncoding	Benign
12	32645731	G	A	G32645731A	FGD4	NM_139241.3(FGD4):c.*5198G>A	noncoding	Benign
12	32679332	G	T	G32679332T	DNM1L	NM_012062.5(DNM1L):c.-32G>T	noncoding	Benign
12	32679350	G	A	G32679350A	DNM1L	NM_012062.5(DNM1L):c.-14G>A	noncoding	Benign
12	32679368	A	C	A32679368C	DNM1L	NM_012062.5(DNM1L):c.5A>C:p.Glu2Ala	coding	Pathogenic
12	32701148	C	T	C32701148T	DNM1L	NM_012062.5(DNM1L):c.103-267C>T	noncoding	Benign
12	32701266	A	G	A32701266G	DNM1L	NM_012062.5(DNM1L):c.103-149A>G	noncoding	Benign
12	32701418	A	G	A32701418G	DNM1L	NM_012062.5(DNM1L):c.106A>G:p.Ser36Gly	coding	Pathogenic
12	32701427	A	G	A32701427G	DNM1L	NM_012062.5(DNM1L):c.115A>G:p.Ser39Gly	coding	Pathogenic
12	32701432	A	C	A32701432C	DNM1L	NM_012062.5(DNM1L):c.120A>C:p.Ser40=	coding	Benign
12	32701668	G	A	G32701668A	DNM1L	NM_012062.5(DNM1L):c.250+106G>A	noncoding	Benign
12	32701824	T	C	T32701824C	DNM1L	NM_012062.5(DNM1L):c.250+262T>C	noncoding	Benign
12	32707368	G	A	G32707368A	DNM1L	NM_012062.5(DNM1L):c.252G>A:p.Gly84=	coding	Benign
12	32710691	A	G	A32710691G	DNM1L	NM_012062.5(DNM1L):c.370-238A>G	noncoding	Benign
12	32710766	A	G	A32710766G	DNM1L	NM_012062.5(DNM1L):c.370-163A>G	noncoding	Benign
12	32710890	T	C	T32710890C	DNM1L	NM_012062.5(DNM1L):c.370-39T>C	noncoding	Benign
12	32713327	C	A	C32713327A	DNM1L	NM_012062.5(DNM1L):c.575C>A:p.Ala192Glu	coding	Pathogenic
12	32713465	G	A	G32713465A	DNM1L	NM_012062.5(DNM1L):c.619+94G>A	noncoding	Benign
12	32713469	T	C	T32713469C	DNM1L	NM_012062.5(DNM1L):c.619+98T>C	noncoding	Benign
12	32713582	A	T	A32713582T	DNM1L	NM_012062.5(DNM1L):c.619+211A>T	noncoding	Benign
12	32713623	G	A	G32713623A	DNM1L	NM_012062.5(DNM1L):c.619+252G>A	noncoding	Benign
12	32718547	G	A	G32718547A	DNM1L	NM_012062.5(DNM1L):c.620-96G>A	noncoding	Benign
12	32718926	G	A	G32718926A	DNM1L	NM_012062.5(DNM1L):c.740+163G>A	noncoding	Benign
12	32720645	G	A	G32720645A	DNM1L	NM_012062.5(DNM1L):c.741-19G>A	noncoding	Benign
12	32720982	C	T	C32720982T	DNM1L	NM_012062.5(DNM1L):c.872+187C>T	noncoding	Benign
12	32722472	A	G	A32722472G	DNM1L	NM_012062.5(DNM1L):c.918A>G:p.Thr306=	coding	Benign
12	32722520	C	T	C32722520T	DNM1L	NM_012062.5(DNM1L):c.966C>T:p.Tyr322=	coding	Benign
12	32722643	A	G	A32722643G	DNM1L	NM_012062.5(DNM1L):c.1079+10A>G	noncoding	Benign
12	32730998	C	T	C32730998T	DNM1L	NM_012062.5(DNM1L):c.1080-16C>T	noncoding	Benign
12	32731018	G	A	G32731018A	DNM1L	NM_012062.5(DNM1L):c.1084G>A:p.Gly362Ser	coding	Pathogenic
12	32731118	C	A	C32731118A	DNM1L	NM_012062.5(DNM1L):c.1184C>A:p.Ala395Asp	coding	Pathogenic
12	32731143	G	A	G32731143A	DNM1L	NM_012062.5(DNM1L):c.1200+9G>A	noncoding	Benign/Likely_benign
12	32731362	C	T	C32731362T	DNM1L	NM_012062.5(DNM1L):c.1207C>T:p.Arg403Cys	coding	Pathogenic
12	32733738	A	G	A32733738G	DNM1L	NM_012062.5(DNM1L):c.1470A>G:p.Glu490=	coding	Benign
12	32737227	C	T	C32737227T	DNM1L	NM_012062.5(DNM1L):c.1596+66C>T	noncoding	Benign
12	32737409	G	A	G32737409A	DNM1L	NM_012062.5(DNM1L):c.1596+248G>A	noncoding	Benign
12	32737744	T	C	T32737744C	DNM1L	NM_012062.5(DNM1L):c.1597-121T>C	noncoding	Benign
12	32737751	C	T	C32737751T	DNM1L	NM_012062.5(DNM1L):c.1597-114C>T	noncoding	Benign
12	32737978	T	A	T32737978A	DNM1L	NM_012062.5(DNM1L):c.1674+36T>A	noncoding	Benign
12	32740492	C	T	C32740492T	DNM1L	NM_012062.5(DNM1L):c.1968C>T:p.Leu656=	coding	Benign
12	32740781	G	T	G32740781T	DNM1L	NM_012062.5(DNM1L):c.1994+263G>T	noncoding	Benign
12	32742666	A	G	A32742666G	DNM1L	NM_012062.5(DNM1L):c.2072A>G:p.Tyr691Cys	coding	Pathogenic/Likely_pathogenic
12	32744010	C	T	C32744010T	YARS2;DNM1L	NM_012062.5(DNM1L):c.*600C>T	noncoding	Benign/Likely_benign
12	32744503	T	C	T32744503C	YARS2	NM_012062.5(DNM1L):c.*1093T>C	noncoding	Benign
12	32744652	G	A	G32744652A	DNM1L;YARS2	NM_012062.5(DNM1L):c.*1242G>A	noncoding	Benign/Likely_benign
12	32744825	T	C	T32744825C	DNM1L;YARS2	NM_012062.5(DNM1L):c.*1415T>C	noncoding	Benign/Likely_benign
12	32746995	C	G	C32746995G	DNM1L;YARS2	NM_001040436.3(YARS2):c.*209G>C	noncoding	Benign/Likely_benign
12	32747013	A	G	A32747013G	DNM1L;YARS2	NM_001040436.3(YARS2):c.*191T>C	noncoding	Benign/Likely_benign
12	32747042	T	C	T32747042C	DNM1L;YARS2	NM_001040436.3(YARS2):c.*162A>G	noncoding	Benign/Likely_benign
12	32747282	T	C	T32747282C	DNM1L;YARS2	NM_001040436.3(YARS2):c.1356A>G:p.Gln452=	coding	Benign/Likely_benign
12	32747335	T	C	T32747335C	YARS2	NM_001040436.3(YARS2):c.1303A>G:p.Ser435Gly	coding	Pathogenic
12	32750105	C	T	C32750105T	YARS2	NM_001040436.3(YARS2):c.1106G>A:p.Cys369Tyr	coding	Pathogenic
12	32750214	T	G	T32750214G	YARS2	NM_001040436.3(YARS2):c.1104-107A>C	noncoding	Benign
12	32750701	A	G	A32750701G	YARS2	NM_001040436.3(YARS2):c.1103+18T>C	noncoding	Benign
12	32750744	G	A	G32750744A	YARS2	NM_001040436.3(YARS2):c.1078C>T:p.Arg360Ter	coding	Pathogenic
12	32750796	C	T	C32750796T	YARS2	NM_001040436.3(YARS2):c.1026G>A:p.Arg342=	coding	Benign/Likely_benign
12	32755303	C	A	C32755303A	YARS2	NM_001040436.3(YARS2):c.572G>T:p.Gly191Val	coding	Benign/Likely_benign
12	32755303	C	T	C32755303T	YARS2	NM_001040436.3(YARS2):c.572G>A:p.Gly191Asp	coding	Pathogenic
12	32755533	G	A	G32755533A	YARS2	NM_001040436.3(YARS2):c.342C>T:p.Gly114=	coding	Benign
12	32755584	G	A	G32755584A	YARS2	NM_001040436.3(YARS2):c.291C>T:p.Gly97=	coding	Benign/Likely_benign
12	32755719	G	C	G32755719C	YARS2	NM_001040436.3(YARS2):c.156C>G:p.Phe52Leu	coding	Pathogenic/Likely_pathogenic
12	32755738	C	T	C32755738T	YARS2	NM_001040436.3(YARS2):c.137G>A:p.Gly46Asp	coding	Pathogenic
12	32756027	C	G	C32756027G	YARS2	NC_000012.12:g.32756027C>G	noncoding	Benign
12	32790861	C	A	C32790861A	PKP2	NM_004572.3(PKP2):c.*1563G>T	noncoding	Benign
12	32790993	C	T	C32790993T	PKP2	NM_004572.3(PKP2):c.*1431G>A	noncoding	Benign
12	32791153	C	G	C32791153G	PKP2	NM_004572.3(PKP2):c.*1271G>C	noncoding	Benign
12	32791228	C	T	C32791228T	PKP2	NM_004572.3(PKP2):c.*1196G>A	noncoding	Benign
12	32791480	G	T	G32791480T	PKP2	NM_004572.3(PKP2):c.*944C>A	noncoding	Benign
12	32791612	G	A	G32791612A	PKP2	NM_004572.3(PKP2):c.*812C>T	noncoding	Benign
12	32792173	G	C	G32792173C	PKP2	NM_004572.3(PKP2):c.*251C>G	noncoding	Benign
12	32792552	G	T	G32792552T	PKP2	NM_004572.3(PKP2):c.2578-60C>A	noncoding	Benign
12	32792561	C	T	C32792561T	PKP2	NM_004572.3(PKP2):c.2578-69G>A	noncoding	Benign
12	32792787	G	T	G32792787T	PKP2	NM_004572.3(PKP2):c.2490-56C>A	noncoding	Benign
12	32792835	G	C	G32792835C	PKP2	NM_004572.3(PKP2):c.2490-104C>G	noncoding	Benign
12	32792901	G	A	G32792901A	PKP2	NM_004572.3(PKP2):c.2490-170C>T	noncoding	Benign
12	32796037	C	T	C32796037T	PKP2	NM_004572.3(PKP2):c.2489+72G>A	noncoding	Benign
12	32796105	T	G	T32796105G	PKP2	NM_004572.3(PKP2):c.2489+4A>C	noncoding	Pathogenic
12	32796108	C	A	C32796108A	PKP2	NM_001005242.3(PKP2):c.2357+1G>T	noncoding	Pathogenic/Likely_pathogenic
12	32796108	C	T	C32796108T	PKP2	NM_001005242.3(PKP2):c.2357+1G>A	noncoding	Pathogenic
12	32796113	C	T	C32796113T	PKP2	NM_001005242.3(PKP2):c.2353G>A:p.Asp785Asn	coding	Benign/Likely_benign
12	32796207	G	T	G32796207T	PKP2	NM_001005242.3(PKP2):c.2259C>A:p.Tyr753Ter	coding	Pathogenic
12	32796212	A	G	A32796212G	PKP2	NM_004572.3(PKP2):c.2386T>C:p.Cys796Arg	coding	Pathogenic
12	32796304	A	G	A32796304G	PKP2	NM_004572.3(PKP2):c.2300-6T>C	noncoding	Benign
12	32796317	A	T	A32796317T	PKP2	NM_004572.3(PKP2):c.2300-19T>A	noncoding	Benign/Likely_benign
12	32802220	G	C	G32802220C	PKP2	NM_004572.3(PKP2):c.2299+183C>G	noncoding	Benign
12	32802396	G	A	G32802396A	PKP2	NM_001005242.3(PKP2):c.2167+7C>T	noncoding	Benign
12	32802402	C	T	C32802402T	PKP2	NM_004572.3(PKP2):c.2299+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	32802499	G	A	G32802499A	PKP2	NM_001005242.3(PKP2):c.2071C>T:p.Arg691Ter	coding	Pathogenic
12	32802500	G	C	G32802500C	PKP2	NM_004572.3(PKP2):c.2202C>G:p.Thr734=	coding	Benign/Likely_benign
12	32802508	G	A	G32802508A	PKP2	NM_001005242.3(PKP2):c.2062C>T:p.Gln688Ter	coding	Pathogenic
12	32802523	T	A	T32802523A	PKP2	NM_001005242.3(PKP2):c.2047A>T:p.Lys683Ter	coding	Pathogenic
12	32802557	C	G	C32802557G	PKP2	NM_001005242.3(PKP2):c.2014-1G>C	coding	Pathogenic
12	32821311	C	T	C32821311T	PKP2	NM_004572.3(PKP2):c.2145+45G>A	noncoding	Benign
12	32821473	C	T	C32821473T	PKP2	NM_004572.3(PKP2):c.2028G>A:p.Trp676Ter	coding	Pathogenic/Likely_pathogenic
12	32821502	C	A	C32821502A	PKP2	NM_001005242.3(PKP2):c.1867G>T:p.Glu623Ter	coding	Pathogenic
12	32821506	C	T	C32821506T	PKP2	NM_001005242.3(PKP2):c.1863G>A:p.Pro621=	coding	Benign/Likely_benign
12	32821523	G	A	G32821523A	PKP2	NM_004572.3(PKP2):c.1978C>T:p.Gln660Ter	coding	Pathogenic
12	32821527	T	C	T32821527C	PKP2	NM_004572.3(PKP2):c.1974A>G:p.Gln658=	coding	Benign/Likely_benign
12	32821677	T	C	T32821677C	PKP2	NM_004572.3(PKP2):c.1972-148A>G	noncoding	Benign
12	32822232	A	G	A32822232G	PKP2	NM_004572.3(PKP2):c.1971+235T>C	noncoding	Benign
12	32822487	G	A	G32822487A	PKP2	NM_004572.3(PKP2):c.1951C>T:p.Arg651Ter	coding	Pathogenic
12	32822526	G	A	G32822526A	PKP2	NM_001005242.3(PKP2):c.1780C>T:p.Gln594Ter	coding	Pathogenic
12	32822590	G	T	G32822590T	PKP2	NM_004572.3(PKP2):c.1848C>A:p.Tyr616Ter	coding	Pathogenic
12	32822594	G	A	G32822594A	PKP2	NM_004572.3(PKP2):c.1844C>T:p.Ser615Phe	coding	Pathogenic
12	32822826	A	G	A32822826G	PKP2	NM_004572.3(PKP2):c.1807-195T>C	noncoding	Benign
12	32823714	C	T	C32823714T	PKP2	NM_004572.3(PKP2):c.1806+331G>A	noncoding	Benign
12	32824047	T	A	T32824047A	PKP2	NM_004572.3(PKP2):c.1804A>T:p.Lys602Ter	coding	Pathogenic
12	32824084	A	C	A32824084C	PKP2	NM_004572.3(PKP2):c.1767T>G:p.Tyr589Ter	coding	Pathogenic
12	32824163	C	G	C32824163G	PKP2	NM_004572.3(PKP2):c.1689-1G>C	coding	Pathogenic
12	32824164	T	C	T32824164C	PKP2	NM_004572.3(PKP2):c.1689-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	32840888	A	G	A32840888G	PKP2	NM_004572.3(PKP2):c.1688+140T>C	noncoding	Benign
12	32841019	T	C	T32841019C	PKP2	NM_001005242.3(PKP2):c.1556+9A>G	noncoding	Benign/Likely_benign
12	32841027	C	T	C32841027T	PKP2	NM_001005242.3(PKP2):c.1556+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	32841029	T	A	T32841029A	PKP2	NM_004572.3(PKP2):c.1687A>T:p.Arg563Ter	coding	Pathogenic
12	32841045	G	A	G32841045A	PKP2	NM_001005242.3(PKP2):c.1539C>T:p.Asn513=	coding	Benign/Likely_benign
12	32841075	A	G	A32841075G	PKP2	NM_001005242.3(PKP2):c.1509T>C:p.Asn503=	coding	Benign/Likely_benign
12	32841103	C	T	C32841103T	PKP2	NM_001005242.3(PKP2):c.1481G>A:p.Trp494Ter	coding	Pathogenic
12	32841124	A	C	A32841124C	PKP2	NM_001005242.3(PKP2):c.1460T>G:p.Ile487Ser	coding	Benign/Likely_benign
12	32841206	C	T	C32841206T	PKP2	NM_004572.3(PKP2):c.1511-1G>A	coding	Pathogenic
12	32841207	T	A	T32841207A	PKP2	NM_004572.3(PKP2):c.1511-2A>T	noncoding	Pathogenic/Likely_pathogenic
12	32841223	T	C	T32841223C	PKP2	NM_004572.3(PKP2):c.1511-18A>G	noncoding	Benign/Likely_benign
12	32843273	G	A	G32843273A	PKP2	NM_004572.3(PKP2):c.1419C>T:p.Gly473=	coding	Benign/Likely_benign
12	32850589	A	T	A32850589T	PKP2	NM_004572.3(PKP2):c.1378+177T>A	noncoding	Benign
12	32850765	C	G	C32850765G	PKP2	NM_001005242.3(PKP2):c.1378+1G>C	noncoding	Pathogenic/Likely_pathogenic
12	32850766	C	G	C32850766G	PKP2	NM_004572.3(PKP2):c.1378G>C:p.Asp460His	coding	Pathogenic
12	32850775	G	A	G32850775A	PKP2	NM_001005242.3(PKP2):c.1369C>T:p.Gln457Ter	coding	Pathogenic
12	32850896	A	T	A32850896T	PKP2	NM_004572.3(PKP2):c.1248T>A:p.Cys416Ter	coding	Pathogenic
12	32850907	G	A	G32850907A	PKP2	NM_001005242.3(PKP2):c.1237C>T:p.Arg413Ter	coding	Pathogenic
12	32850914	G	A	G32850914A	PKP2	NM_004572.3(PKP2):c.1230C>T:p.Asp410=	coding	Benign/Likely_benign
12	32850925	G	A	G32850925A	PKP2	NM_004572.3(PKP2):c.1219C>T:p.Gln407Ter	coding	Pathogenic
12	32850975	T	C	T32850975C	PKP2	NM_004572.3(PKP2):c.1171-2A>G	noncoding	Pathogenic
12	32850984	A	G	A32850984G	PKP2	NM_001005242.3(PKP2):c.1171-11T>C	noncoding	Benign/Likely_benign
12	32850990	T	C	T32850990C	PKP2	NM_004572.3(PKP2):c.1171-17A>G	noncoding	Benign
12	32851119	T	C	T32851119C	PKP2	NM_004572.3(PKP2):c.1171-146A>G	noncoding	Benign
12	32868925	A	T	A32868925T	PKP2	NM_001005242.3(PKP2):c.1170+2T>A	noncoding	Pathogenic/Likely_pathogenic
12	32868926	C	T	C32868926T	PKP2	NM_001005242.3(PKP2):c.1170+1G>A	noncoding	Pathogenic
12	32868935	G	A	G32868935A	PKP2	NM_004572.3(PKP2):c.1162C>T:p.Arg388Trp	coding	Pathogenic/Likely_pathogenic
12	32868950	G	A	G32868950A	PKP2	NM_004572.3(PKP2):c.1147C>T:p.Gln383Ter	coding	Pathogenic
12	32868959	C	A	C32868959A	PKP2	NM_004572.3(PKP2):c.1138G>T:p.Glu380Ter	coding	Pathogenic/Likely_pathogenic
12	32868965	G	A	G32868965A	PKP2	NM_001005242.3(PKP2):c.1132C>T:p.Gln378Ter	coding	Pathogenic
12	32868981	A	G	A32868981G	PKP2	NM_001005242.3(PKP2):c.1116T>C:p.Ala372=	coding	Benign/Likely_benign
12	32869000	A	G	A32869000G	PKP2	NM_001005242.3(PKP2):c.1097T>C:p.Leu366Pro	coding	Benign
12	32869034	G	A	G32869034A	PKP2	NM_004572.3(PKP2):c.1063C>T:p.Arg355Ter	coding	Pathogenic
12	32877836	G	A	G32877836A	PKP2	NM_004572.3(PKP2):c.1034+10C>T	noncoding	Benign
12	32877868	T	C	T32877868C	PKP2	NM_001005242.3(PKP2):c.1012A>G:p.Thr338Ala	coding	Benign/Likely_benign
12	32877877	C	A	C32877877A	PKP2	NM_001005242.3(PKP2):c.1003G>T:p.Glu335Ter	coding	Pathogenic
12	32877908	C	T	C32877908T	PKP2	NM_001005242.3(PKP2):c.972G>A:p.Ala324=	coding	Benign/Likely_benign
12	32877929	C	T	C32877929T	PKP2	NM_001005242.3(PKP2):c.951G>A:p.Ala317=	coding	Benign/Likely_benign
12	32877941	G	A	G32877941A	PKP2	NM_001005242.3(PKP2):c.939C>T:p.Ser313=	coding	Benign/Likely_benign
12	32877953	G	A	G32877953A	PKP2	NM_004572.3(PKP2):c.927C>T:p.Ala309=	coding	Benign/Likely_benign
12	32878061	C	T	C32878061T	PKP2	NM_001005242.3(PKP2):c.819G>A:p.Pro273=	coding	Benign
12	32878089	G	A	G32878089A	PKP2	NM_001005242.3(PKP2):c.791C>T:p.Ala264Val	coding	Benign/Likely_benign
12	32878105	C	A	C32878105A	PKP2	NM_004572.3(PKP2):c.775G>T:p.Glu259Ter	coding	Pathogenic
12	32878108	T	A	T32878108A	PKP2	NM_001005242.3(PKP2):c.772A>T:p.Lys258Ter	coding	Pathogenic/Likely_pathogenic
12	32878174	C	A	C32878174A	PKP2	NM_001005242.3(PKP2):c.706G>T:p.Ala236Ser	coding	Benign/Likely_benign
12	32878217	G	T	G32878217T	PKP2	NM_004572.3(PKP2):c.663C>A:p.Tyr221Ter	coding	Pathogenic
12	32878222	G	A	G32878222A	PKP2	NM_004572.3(PKP2):c.658C>T:p.Gln220Ter	coding	Pathogenic
12	32878381	G	A	G32878381A	PKP2	NM_004572.3(PKP2):c.499C>T:p.Gln167Ter	coding	Pathogenic
12	32878474	C	T	C32878474T	PKP2	NM_004572.3(PKP2):c.406G>A:p.Val136Met	coding	Benign/Likely_benign
12	32878483	G	A	G32878483A	PKP2	NM_004572.3(PKP2):c.397C>T:p.Gln133Ter	coding	Pathogenic
12	32878490	G	C	G32878490C	PKP2	NM_004572.3(PKP2):c.390C>G:p.Tyr130Ter	coding	Pathogenic
12	32878511	C	T	C32878511T	PKP2	NM_004572.3(PKP2):c.369G>A:p.Trp123Ter	coding	Pathogenic
12	32878512	C	T	C32878512T	PKP2	NM_004572.3(PKP2):c.368G>A:p.Trp123Ter	coding	Pathogenic
12	32878545	T	A	T32878545A	PKP2	NM_001005242.3(PKP2):c.337-2A>T	noncoding	Pathogenic/Likely_pathogenic
12	32878981	A	T	A32878981T	PKP2	NM_004572.3(PKP2):c.275T>A:p.Leu92Ter	coding	Pathogenic
12	32879021	G	A	G32879021A	PKP2	NM_001005242.3(PKP2):c.235C>T:p.Arg79Ter	coding	Pathogenic
12	32896223	C	T	C32896223T	PKP2	NM_004572.3(PKP2):c.223+286G>A	noncoding	Benign
12	32896523	C	A	C32896523A	PKP2	NM_001005242.3(PKP2):c.209G>T:p.Ser70Ile	coding	Benign/Likely_benign
12	32896557	G	A	G32896557A	PKP2	NM_001005242.3(PKP2):c.175C>T:p.Gln59Ter	coding	Pathogenic
12	32896558	C	A	C32896558A	PKP2	NM_001005242.3(PKP2):c.174G>T:p.Glu58Asp	coding	Benign/Likely_benign
12	32896576	C	T	C32896576T	PKP2	NM_001005242.3(PKP2):c.156G>A:p.Lys52=	coding	Benign/Likely_benign
12	32896656	C	T	C32896656T	PKP2	NM_001005242.3(PKP2):c.76G>A:p.Asp26Asn	coding	Benign/Likely_benign
12	32896753	G	C	G32896753C	PKP2	NM_001005242.3(PKP2):c.-22C>G	noncoding	Benign
12	32896847	G	A	G32896847A	PKP2	NM_004572.3(PKP2):c.-116C>T	noncoding	Benign/Likely_benign
12	32896995	C	T	C32896995T	PKP2	NM_004572.3(PKP2):c.-264G>A	noncoding	Benign
12	33376888	G	A	G33376888A	SYT10	NM_198992.4(SYT10):c.1514C>T:p.Ala505Val	coding	Benign
12	33382460	G	C	G33382460C	SYT10	NM_198992.4(SYT10):c.1259C>G:p.Thr420Ser	coding	Benign
12	33426278	G	A	G33426278A	SYT10	NM_198992.4(SYT10):c.369C>T:p.Ala123=	coding	Benign
12	34025895	A	C	A34025895C	ALG10	NM_032834.4(ALG10):c.402A>C:p.Thr134=	coding	Benign
12	34026222	C	T	C34026222T	ALG10	NM_032834.4(ALG10):c.729C>T:p.Ser243=	coding	Benign
12	34026298	G	A	G34026298A	ALG10	NM_032834.4(ALG10):c.805G>A:p.Val269Ile	coding	Benign
12	39293612	A	G	A39293612G	KIF21A	NM_001173464.2(KIF21A):c.*812T>C	noncoding	Benign
12	39293717	T	C	T39293717C	KIF21A	NM_001173464.2(KIF21A):c.*707A>G	noncoding	Benign
12	39293779	A	C	A39293779C	KIF21A	NM_001173464.2(KIF21A):c.*645T>G	noncoding	Benign
12	39293952	T	C	T39293952C	KIF21A	NM_001173464.2(KIF21A):c.*472A>G	noncoding	Benign
12	39293977	T	C	T39293977C	KIF21A	NM_001173464.2(KIF21A):c.*447A>G	noncoding	Benign
12	39294006	T	C	T39294006C	KIF21A	NM_001173464.2(KIF21A):c.*418A>G	noncoding	Benign
12	39294187	T	C	T39294187C	KIF21A	NM_001173464.2(KIF21A):c.*237A>G	noncoding	Benign
12	39301643	G	A	G39301643A	KIF21A	NM_001173464.2(KIF21A):c.4768C>T:p.Leu1590=	coding	Benign
12	39303040	T	C	T39303040C	KIF21A	NM_001173464.2(KIF21A):c.4656A>G:p.Gln1552=	coding	Benign
12	39303134	A	C	A39303134C	KIF21A	NM_001173464.2(KIF21A):c.4562T>G:p.Met1521Arg	coding	Benign
12	39304839	G	C	G39304839C	KIF21A	NM_001173464.2(KIF21A):c.4542C>G:p.Ser1514=	coding	Benign
12	39304845	A	G	A39304845G	KIF21A	NM_001173464.2(KIF21A):c.4536T>C:p.Thr1512=	coding	Benign
12	39304866	A	C	A39304866C	KIF21A	NM_001173464.2(KIF21A):c.4515T>G:p.Ser1505Arg	coding	Benign
12	39311469	T	C	T39311469C	KIF21A	NM_001173464.2(KIF21A):c.4044A>G:p.Lys1348=	coding	Benign
12	39311564	G	A	G39311564A	KIF21A	NM_001173464.2(KIF21A):c.3960-11C>T	noncoding	Benign
12	39315229	C	T	C39315229T	KIF21A	NM_001173464.2(KIF21A):c.3959G>A:p.Arg1320Lys	coding	Benign
12	39318139	C	T	C39318139T	KIF21A	NM_001173464.2(KIF21A):c.3842G>A:p.Arg1281His	coding	Benign
12	39319974	C	A	C39319974A	KIF21A	NM_001173464.2(KIF21A):c.3711G>T:p.Glu1237Asp	coding	Benign
12	39322698	G	C	G39322698C	KIF21A	NM_001173464.2(KIF21A):c.3641C>G:p.Pro1214Arg	coding	Benign
12	39330250	A	G	A39330250G	KIF21A	NM_001173464.2(KIF21A):c.3332T>C:p.Val1111Ala	coding	Benign
12	39331694	T	C	T39331694C	KIF21A	NM_001173464.2(KIF21A):c.3149A>G:p.Asn1050Ser	coding	Benign
12	39331725	G	A	G39331725A	KIF21A	NM_001173464.2(KIF21A):c.3118C>T:p.Leu1040=	coding	Benign
12	39331732	G	A	G39331732A	KIF21A	NM_001173464.2(KIF21A):c.3111C>T:p.Ala1037=	coding	Benign
12	39332236	A	G	A39332236G	KIF21A	NM_001173464.2(KIF21A):c.3029T>C:p.Ile1010Thr	coding	Pathogenic
12	39332404	C	T	C39332404T	KIF21A	NM_001173464.2(KIF21A):c.2861G>A:p.Arg954Gln	coding	Pathogenic
12	39332405	G	A	G39332405A	KIF21A	NM_001173464.2(KIF21A):c.2860C>T:p.Arg954Trp	coding	Pathogenic
12	39332606	C	T	C39332606T	KIF21A	NM_001173464.2(KIF21A):c.2841G>A:p.Met947Ile	coding	Pathogenic
12	39332607	A	C	A39332607C	KIF21A	NM_001173464.2(KIF21A):c.2840T>G:p.Met947Arg	coding	Pathogenic
12	39332608	T	C	T39332608C	KIF21A	NM_001173464.2(KIF21A):c.2839A>G:p.Met947Val	coding	Pathogenic
12	39332887	G	A	G39332887A	KIF21A	NM_001173464.2(KIF21A):c.2702+6C>T	noncoding	Benign
12	39332910	C	T	C39332910T	KIF21A	NM_001173464.2(KIF21A):c.2685G>A:p.Pro895=	coding	Benign
12	39332911	G	A	G39332911A	KIF21A	NM_001173464.2(KIF21A):c.2684C>T:p.Pro895Leu	coding	Benign
12	39332935	G	A	G39332935A	KIF21A	NM_001173464.2(KIF21A):c.2660C>T:p.Ala887Val	coding	Benign
12	39333054	T	C	T39333054C	KIF21A	NM_001173464.2(KIF21A):c.2541A>G:p.Lys847=	coding	Benign
12	39333207	T	A	T39333207A	KIF21A	NM_001173464.2(KIF21A):c.2487+5A>T	noncoding	Benign
12	39340155	T	C	T39340155C	KIF21A	NM_001173464.2(KIF21A):c.2310+10A>G	noncoding	Benign
12	39340170	T	C	T39340170C	KIF21A	NM_001173464.2(KIF21A):c.2305A>G:p.Thr769Ala	coding	Benign
12	39340973	C	T	C39340973T	KIF21A	NM_001173464.2(KIF21A):c.2043G>A:p.Lys681=	coding	Benign
12	39341540	C	A	C39341540A	KIF21A	NM_001173464.2(KIF21A):c.1886G>T:p.Ser629Ile	coding	Benign
12	39341546	C	A	C39341546A	KIF21A	NM_001173464.2(KIF21A):c.1880G>T:p.Gly627Val	coding	Benign
12	39341637	G	A	G39341637A	KIF21A	NM_001173464.2(KIF21A):c.1804-15C>T	noncoding	Benign
12	39342061	C	T	C39342061T	KIF21A	NM_001173464.2(KIF21A):c.1776G>A:p.Ser592=	coding	Benign
12	39342135	G	C	G39342135C	KIF21A	NM_001173464.2(KIF21A):c.1713-11C>G	noncoding	Benign
12	39351822	T	C	T39351822C	KIF21A	NM_001173464.2(KIF21A):c.1628A>G:p.Lys543Arg	coding	Benign
12	39356822	T	C	T39356822C	KIF21A	NM_001173464.2(KIF21A):c.1469+10A>G	noncoding	Benign
12	39356843	G	T	G39356843T	KIF21A	NM_001173464.2(KIF21A):c.1458C>A:p.Ile486=	coding	Benign
12	39357318	C	A	C39357318A	KIF21A	NM_001173464.2(KIF21A):c.1335G>T:p.Thr445=	coding	Benign
12	39357392	T	C	T39357392C	KIF21A	NM_001173464.2(KIF21A):c.1261A>G:p.Met421Val	coding	Benign
12	39357413	C	G	C39357413G	KIF21A	NM_001173464.2(KIF21A):c.1240G>C:p.Gly414Arg	coding	Benign/Likely_benign
12	39358233	T	C	T39358233C	KIF21A	NM_001173464.2(KIF21A):c.1160A>G:p.Asn387Ser	coding	Benign
12	39358280	G	T	G39358280T	KIF21A	NM_001173464.2(KIF21A):c.1113C>A:p.Ile371=	coding	Benign
12	39358289	A	C	A39358289C	KIF21A	NM_001173464.2(KIF21A):c.1104T>G:p.Ala368=	coding	Benign
12	39358326	A	G	A39358326G	KIF21A	NM_001173464.2(KIF21A):c.1067T>C:p.Met356Thr	coding	Pathogenic
12	39358355	T	C	T39358355C	KIF21A	NM_001173464.2(KIF21A):c.1038A>G:p.Ala346=	coding	Benign/Likely_benign
12	39363142	A	G	A39363142G	KIF21A	NM_001173464.2(KIF21A):c.975T>C:p.Asp325=	coding	Benign
12	39366350	A	T	A39366350T	KIF21A	NM_001173464.2(KIF21A):c.903T>A:p.Leu301=	coding	Benign
12	39367157	T	C	T39367157C	KIF21A	NM_001173464.2(KIF21A):c.608A>G:p.Gln203Arg	coding	Benign
12	39367905	C	T	C39367905T	KIF21A	NM_001173464.2(KIF21A):c.578G>A:p.Arg193His	coding	Benign
12	39368005	A	G	A39368005G	KIF21A	NM_001173464.2(KIF21A):c.478T>C:p.Phe160Leu	coding	Benign
12	39370222	G	C	G39370222C	KIF21A	NM_001173464.2(KIF21A):c.84C>G:p.Cys28Trp	coding	Pathogenic
12	39442989	T	C	T39442989C	KIF21A	NM_001173464.2(KIF21A):c.-19A>G	noncoding	Benign
12	39443001	G	A	G39443001A	KIF21A	NM_001173464.2(KIF21A):c.-31C>T	noncoding	Benign
12	39443135	C	A	C39443135A	KIF21A	NM_017641.3(KIF21A):c.-165G>T	noncoding	Benign
12	39443165	T	C	T39443165C	KIF21A	NM_017641.3(KIF21A):c.-195A>G	noncoding	Benign
12	39443180	G	A	G39443180A	KIF21A	NM_017641.3(KIF21A):c.-210C>T	noncoding	Benign
12	39443283	C	T	C39443283T	KIF21A	NM_017641.3(KIF21A):c.-313G>A	noncoding	Benign
12	39443381	C	T	C39443381T	KIF21A	NM_017641.3(KIF21A):c.-411G>A	noncoding	Benign
12	39573859	C	G	C39573859G	ABCD2	NM_005164.4(ABCD2):c.1878-18G>C	noncoding	Benign
12	40225628	G	A	G40225628A	LRRK2	NM_198578.4(LRRK2):c.225G>A:p.Ala75=	coding	Benign
12	40235642	C	T	C40235642T	LRRK2	NM_198578.4(LRRK2):c.364C>T:p.Leu122=	coding	Benign/Likely_benign
12	40237989	T	C	T40237989C	LRRK2	NM_198578.4(LRRK2):c.457T>C:p.Leu153=	coding	Benign
12	40243579	A	C	A40243579C	LRRK2	NM_198578.4(LRRK2):c.736A>C:p.Asn246His	coding	Benign
12	40249854	C	T	C40249854T	LRRK2	NM_198578.4(LRRK2):c.867C>T:p.Asn289=	coding	Benign
12	40249923	G	T	G40249923T	LRRK2	NM_198578.4(LRRK2):c.936G>T:p.Ala312=	coding	Benign
12	40251455	C	A	C40251455A	LRRK2	NM_198578.4(LRRK2):c.1102-10C>A	noncoding	Benign
12	40252906	A	G	A40252906G	LRRK2	NM_198578.4(LRRK2):c.1182-4A>G	noncoding	Benign
12	40252984	C	T	C40252984T	LRRK2	NM_198578.4(LRRK2):c.1256C>T:p.Ala419Val	coding	Benign
12	40263898	C	G	C40263898G	LRRK2	NM_198578.4(LRRK2):c.1653C>G:p.Asn551Lys	coding	Benign
12	40277968	A	C	A40277968C	LRRK2	NM_198578.4(LRRK2):c.2022A>C:p.Val674=	coding	Benign
12	40278187	A	G	A40278187G	LRRK2	NM_198578.4(LRRK2):c.2167A>G:p.Ile723Val	coding	Benign
12	40283897	C	T	C40283897T	LRRK2	NM_198578.4(LRRK2):c.2264C>T:p.Pro755Leu	coding	Benign/Likely_benign
12	40283955	G	A	G40283955A	LRRK2	NM_198578.4(LRRK2):c.2322G>A:p.Ala774=	coding	Benign
12	40287444	C	T	C40287444T	LRRK2	NM_198578.4(LRRK2):c.2594C>T:p.Ser865Phe	coding	Benign/Likely_benign
12	40294893	T	C	T40294893C	LRRK2	NM_198578.4(LRRK2):c.2857T>C:p.Leu953=	coding	Benign
12	40298479	G	T	G40298479T	LRRK2	NM_198578.4(LRRK2):c.3333G>T:p.Gln1111His	coding	Benign/Likely_benign
12	40299125	A	G	A40299125G	LRRK2	NM_198578.4(LRRK2):c.3364A>G:p.Ile1122Val	coding	Pathogenic
12	40299190	C	T	C40299190T	LRRK2	NM_198578.4(LRRK2):c.3429C>T:p.Ser1143=	coding	Benign/Likely_benign
12	40299266	T	G	T40299266G	LRRK2	NM_198578.4(LRRK2):c.3496+9T>G	noncoding	Benign
12	40305776	C	T	C40305776T	LRRK2	NM_198578.4(LRRK2):c.3778-9C>T	noncoding	Benign
12	40305791	C	G	C40305791G	LRRK2	NM_198578.4(LRRK2):c.3784C>G:p.Pro1262Ala	coding	Benign
12	40309109	G	A	G40309109A	LRRK2	NM_198578.4(LRRK2):c.4193G>A:p.Arg1398His	coding	Benign
12	40309145	C	T	C40309145T	LRRK2	NM_198578.4(LRRK2):c.4229C>T:p.Thr1410Met	coding	Benign/Likely_benign
12	40309185	G	A	G40309185A	LRRK2	NM_198578.4(LRRK2):c.4269G>A:p.Lys1423=	coding	Benign
12	40309225	A	C	A40309225C	LRRK2	NM_198578.4(LRRK2):c.4309A>C:p.Asn1437His	coding	Pathogenic
12	40309226	A	G	A40309226G	LRRK2	NM_198578.4(LRRK2):c.4310A>G:p.Asn1437Ser	coding	Pathogenic
12	40310425	C	T	C40310425T	LRRK2	NM_198578.4(LRRK2):c.4318-6C>T	noncoding	Benign
12	40310434	C	G	C40310434G	LRRK2	NM_198578.4(LRRK2):c.4321C>G:p.Arg1441Gly	coding	Pathogenic
12	40310434	C	T	C40310434T	LRRK2	NM_198578.4(LRRK2):c.4321C>T:p.Arg1441Cys	coding	Pathogenic
12	40310435	G	A	G40310435A	LRRK2	NM_198578.4(LRRK2):c.4322G>A:p.Arg1441His	coding	Pathogenic
12	40313966	T	C	T40313966C	LRRK2	NM_198578.4(LRRK2):c.4537-6T>C	noncoding	Benign
12	40313976	G	A	G40313976A	LRRK2	NM_198578.4(LRRK2):c.4541G>A:p.Arg1514Gln	coding	Benign/Likely_benign
12	40314046	G	A	G40314046A	LRRK2	NM_198578.4(LRRK2):c.4611G>A:p.Glu1537=	coding	Benign
12	40314059	C	T	C40314059T	LRRK2	NM_198578.4(LRRK2):c.4624C>T:p.Pro1542Ser	coding	Benign
12	40315309	C	A	C40315309A	LRRK2	NM_198578.4(LRRK2):c.4827+9C>A	noncoding	Benign
12	40320032	C	A	C40320032A	LRRK2	NM_198578.4(LRRK2):c.4872C>A:p.Gly1624=	coding	Benign
12	40320071	A	G	A40320071G	LRRK2	NM_198578.4(LRRK2):c.4911A>G:p.Lys1637=	coding	Benign
12	40320097	T	C	T40320097C	LRRK2	NM_198578.4(LRRK2):c.4937T>C:p.Met1646Thr	coding	Benign/Likely_benign
12	40320099	T	A	T40320099A	LRRK2	NM_198578.4(LRRK2):c.4939T>A:p.Ser1647Thr	coding	Benign
12	40320119	A	G	A40320119G	LRRK2	NM_198578.4(LRRK2):c.4959A>G:p.Leu1653=	coding	Benign
12	40321114	A	G	A40321114G	LRRK2	NM_198578.4(LRRK2):c.5096A>G:p.Tyr1699Cys	coding	Pathogenic
12	40321181	A	G	A40321181G	LRRK2	NM_198578.4(LRRK2):c.5163A>G:p.Ser1721=	coding	Benign/Likely_benign
12	40322458	T	C	T40322458C	LRRK2	NM_198578.4(LRRK2):c.5457T>C:p.Gly1819=	coding	Benign
12	40323151	A	G	A40323151G	LRRK2	NM_198578.4(LRRK2):c.5510-9A>G	noncoding	Benign/Likely_benign
12	40323255	A	G	A40323255G	LRRK2	NM_198578.4(LRRK2):c.5605A>G:p.Met1869Val	coding	Pathogenic
12	40323270	G	T	G40323270T	LRRK2	NM_198578.4(LRRK2):c.5620G>T:p.Glu1874Ter	coding	Pathogenic
12	40340404	T	C	T40340404C	LRRK2	NM_198578.4(LRRK2):c.6059T>C:p.Ile2020Thr	coding	Pathogenic
12	40340411	G	A	G40340411A	LRRK2	NM_198578.4(LRRK2):c.6066G>A:p.Gln2022=	coding	Benign
12	40346884	A	G	A40346884G	LRRK2	NM_198578.4(LRRK2):c.6241A>G:p.Asn2081Asp	coding	Benign
12	40348452	G	A	G40348452A	LRRK2	NM_198578.4(LRRK2):c.6324G>A:p.Glu2108=	coding	Benign
12	40351667	C	A	C40351667A	LRRK2	NM_198578.4(LRRK2):c.6510C>A:p.Gly2170=	coding	Benign/Likely_benign
12	40359345	C	T	C40359345T	LRRK2	NM_198578.4(LRRK2):c.6929C>T:p.Thr2310Met	coding	Benign
12	40363528	A	G	A40363528G	LRRK2	NM_198578.4(LRRK2):c.7155A>G:p.Gly2385=	coding	Benign
12	40364850	T	C	T40364850C	LRRK2	NM_198578.4(LRRK2):c.7190T>C:p.Met2397Thr	coding	Benign
12	40367044	C	T	C40367044T	LRRK2	NM_198578.4(LRRK2):c.7429C>T:p.Arg2477Trp	coding	Benign
12	40367664	G	A	G40367664A	LRRK2	NM_198578.4(LRRK2):c.7483G>A:p.Val2495Ile	coding	Benign
12	40367861	T	C	T40367861C	LRRK2	NM_198578.4(LRRK2):c.*96T>C	noncoding	Benign
12	40367888	A	C	A40367888C	LRRK2	NM_198578.4(LRRK2):c.*123A>C	noncoding	Benign
12	40367913	T	C	T40367913C	LRRK2	NM_198578.4(LRRK2):c.*148T>C	noncoding	Benign
12	40368111	A	G	A40368111G	LRRK2	NM_198578.4(LRRK2):c.*346A>G	noncoding	Benign
12	40368129	A	C	A40368129C	LRRK2	NM_198578.4(LRRK2):c.*364A>C	noncoding	Benign
12	40368149	C	T	C40368149T	LRRK2	NM_198578.4(LRRK2):c.*384C>T	noncoding	Benign
12	40368235	G	T	G40368235T	LRRK2	NM_198578.4(LRRK2):c.*470G>T	noncoding	Benign
12	40368501	G	C	G40368501C	LRRK2	NM_198578.4(LRRK2):c.*736G>C	noncoding	Benign
12	40368744	T	C	T40368744C	LRRK2	NM_198578.4(LRRK2):c.*979T>C	noncoding	Benign
12	40368946	C	T	C40368946T	LRRK2	NM_198578.4(LRRK2):c.*1181C>T	noncoding	Benign
12	40369211	T	A	T40369211A	LRRK2	NM_198578.4(LRRK2):c.*1446T>A	noncoding	Benign
12	40369229	T	G	T40369229G	LRRK2	NM_198578.4(LRRK2):c.*1464T>G	noncoding	Benign
12	40369247	A	G	A40369247G	LRRK2	NM_198578.4(LRRK2):c.*1482A>G	noncoding	Benign
12	40908421	A	G	A40908421G	CNTN1	NM_001843.4(CNTN1):c.-12A>G	noncoding	Benign
12	40908486	T	C	T40908486C	CNTN1	NM_001843.4(CNTN1):c.54T>C:p.Cys18=	coding	Benign
12	40908622	A	G	A40908622G	CNTN1	NM_001843.4(CNTN1):c.61+129A>G	noncoding	Benign
12	40910023	A	C	A40910023C	CNTN1	NM_001843.4(CNTN1):c.62-50A>C	noncoding	Benign
12	40910101	T	C	T40910101C	CNTN1	NM_001843.4(CNTN1):c.90T>C:p.His30=	coding	Benign
12	40918345	G	A	G40918345A	CNTN1	NM_001843.4(CNTN1):c.95-294G>A	noncoding	Benign
12	40918563	A	T	A40918563T	CNTN1	NM_001843.4(CNTN1):c.95-76A>T	noncoding	Benign
12	40918751	C	T	C40918751T	CNTN1	NM_001843.4(CNTN1):c.207C>T:p.Ala69=	coding	Benign/Likely_benign
12	40922579	A	C	A40922579C	CNTN1	NM_001843.4(CNTN1):c.400+151A>C	noncoding	Benign
12	40924367	G	T	G40924367T	CNTN1	NM_001843.4(CNTN1):c.401-190G>T	noncoding	Benign
12	40924463	C	T	C40924463T	CNTN1	NM_001843.4(CNTN1):c.401-94C>T	noncoding	Benign
12	40924548	C	T	C40924548T	CNTN1	NM_001843.4(CNTN1):c.401-9C>T	noncoding	Benign
12	40924818	T	C	T40924818C	CNTN1	NM_001843.4(CNTN1):c.496+166T>C	noncoding	Benign
12	40929678	C	T	C40929678T	CNTN1	NM_001843.4(CNTN1):c.497-118C>T	noncoding	Benign
12	40936729	T	C	T40936729C	CNTN1	NM_001843.4(CNTN1):c.986-52T>C	noncoding	Benign
12	40936809	T	C	T40936809C	CNTN1	NM_001843.4(CNTN1):c.1014T>C:p.Asn338=	coding	Benign
12	40936972	G	A	G40936972A	CNTN1	NM_001843.4(CNTN1):c.1110+67G>A	noncoding	Benign
12	40937810	T	C	T40937810C	CNTN1	NM_001843.4(CNTN1):c.1228+123T>C	noncoding	Benign
12	40937995	A	C	A40937995C	CNTN1	NM_001843.4(CNTN1):c.1228+308A>C	noncoding	Benign
12	40943618	T	C	T40943618C	CNTN1	NM_001843.4(CNTN1):c.1401T>C:p.Gly467=	coding	Benign/Likely_benign
12	40943633	C	T	C40943633T	CNTN1	NM_001843.4(CNTN1):c.1416C>T:p.Asn472=	coding	Benign
12	40944050	C	T	C40944050T	CNTN1	NM_001843.4(CNTN1):c.1563C>T:p.Asn521=	coding	Benign
12	40944237	A	G	A40944237G	CNTN1	NM_001843.4(CNTN1):c.1683+67A>G	noncoding	Benign
12	40944291	G	A	G40944291A	CNTN1	NM_001843.4(CNTN1):c.1683+121G>A	noncoding	Benign
12	40980895	C	A	C40980895A	CNTN1	NM_001843.4(CNTN1):c.1805-14C>A	noncoding	Benign
12	40980997	T	C	T40980997C	CNTN1	NM_001843.4(CNTN1):c.1893T>C:p.His631=	coding	Benign
12	40981015	C	T	C40981015T	CNTN1	NM_001843.4(CNTN1):c.1911C>T:p.Tyr637=	coding	Benign/Likely_benign
12	40981060	A	G	A40981060G	CNTN1	NM_001843.4(CNTN1):c.1956A>G:p.Ala652=	coding	Benign
12	40981304	A	G	A40981304G	CNTN1	NM_001843.4(CNTN1):c.1963+237A>G	noncoding	Benign
12	40992941	A	T	A40992941T	CNTN1	NM_001843.4(CNTN1):c.1964-179A>T	noncoding	Benign
12	40992961	C	G	C40992961G	CNTN1	NM_001843.4(CNTN1):c.1964-159C>G	noncoding	Benign
12	40993304	A	G	A40993304G	CNTN1	NM_001843.4(CNTN1):c.2113+35A>G	noncoding	Benign
12	40993308	C	G	C40993308G	CNTN1	NM_001843.4(CNTN1):c.2113+39C>G	noncoding	Benign
12	41016451	C	T	C41016451T	CNTN1	NM_001843.4(CNTN1):c.2185-231C>T	noncoding	Benign
12	41016821	G	A	G41016821A	CNTN1	NM_001843.4(CNTN1):c.2324G>A:p.Ser775Asn	coding	Benign
12	41016961	G	T	G41016961T	CNTN1	NM_001843.4(CNTN1):c.2419+45G>T	noncoding	Benign
12	41020410	T	C	T41020410C	CNTN1	NM_001843.4(CNTN1):c.2493T>C:p.His831=	coding	Benign/Likely_benign
12	41020555	A	C	A41020555C	CNTN1	NM_001843.4(CNTN1):c.2523+115A>C	noncoding	Benign
12	41024979	C	G	C41024979G	CNTN1	NM_001843.4(CNTN1):c.2524-171C>G	noncoding	Benign
12	41025224	C	G	C41025224G	CNTN1	NM_001843.4(CNTN1):c.2598C>G:p.Ala866=	coding	Benign/Likely_benign
12	41025296	A	T	A41025296T	CNTN1	NM_001843.4(CNTN1):c.2670A>T:p.Gly890=	coding	Benign
12	41027840	A	G	A41027840G	CNTN1	NM_001843.4(CNTN1):c.2711-17A>G	noncoding	Benign
12	41027931	G	A	G41027931A	CNTN1	NM_001843.4(CNTN1):c.2785G>A:p.Val929Ile	coding	Benign
12	41027941	C	A	C41027941A	CNTN1	NM_001843.4(CNTN1):c.2795C>A:p.Ser932Ter	coding	Pathogenic
12	41029162	G	T	G41029162T	CNTN1	NM_001843.4(CNTN1):c.2923G>T:p.Glu975Ter	coding	Pathogenic
12	41029168	C	T	C41029168T	CNTN1	NM_001843.4(CNTN1):c.2929C>T:p.Arg977Cys	coding	Benign
12	41029238	A	T	A41029238T	CNTN1	NM_001843.4(CNTN1):c.2980+19A>T	noncoding	Benign
12	41069721	C	A	C41069721A	CNTN1	NM_001843.4(CNTN1):c.2981-238C>A	noncoding	Benign
12	41069878	C	T	C41069878T	CNTN1	NM_001843.4(CNTN1):c.2981-81C>T	noncoding	Benign
12	41069887	T	C	T41069887C	CNTN1	NM_001843.4(CNTN1):c.2981-72T>C	noncoding	Benign
12	42460001	G	C	G42460001C	PRICKLE1	NM_153026.3(PRICKLE1):c.2304C>G:p.Ser768=	coding	Benign/Likely_benign
12	42460069	G	A	G42460069A	PRICKLE1	NM_153026.3(PRICKLE1):c.2236C>T:p.Pro746Ser	coding	Benign
12	42460403	A	G	A42460403G	PRICKLE1	NM_153026.3(PRICKLE1):c.1902T>C:p.Ser634=	coding	Benign
12	42460406	A	G	A42460406G	PRICKLE1	NM_153026.3(PRICKLE1):c.1899T>C:p.Phe633=	coding	Benign
12	42460436	C	T	C42460436T	PRICKLE1	NM_153026.3(PRICKLE1):c.1869G>A:p.Lys623=	coding	Benign/Likely_benign
12	42460658	C	T	C42460658T	PRICKLE1	NM_153026.3(PRICKLE1):c.1647G>A:p.Ser549=	coding	Benign/Likely_benign
12	42464335	T	G	T42464335G	PRICKLE1	NM_153026.3(PRICKLE1):c.1639+60A>C	noncoding	Benign
12	42464620	A	G	A42464620G	PRICKLE1	NM_153026.3(PRICKLE1):c.1414T>C:p.Tyr472His	coding	Pathogenic
12	42464858	A	G	A42464858G	PRICKLE1	NM_153026.3(PRICKLE1):c.1176T>C:p.Phe392=	coding	Benign/Likely_benign
12	42465080	G	A	G42465080A	PRICKLE1	NM_153026.3(PRICKLE1):c.954C>T:p.Ser318=	coding	Benign/Likely_benign
12	42465080	G	C	G42465080C	PRICKLE1	NM_153026.3(PRICKLE1):c.954C>G:p.Ser318=	coding	Benign/Likely_benign
12	42465937	C	T	C42465937T	PRICKLE1	NM_153026.3(PRICKLE1):c.775+257G>A	noncoding	Benign
12	42466159	A	G	A42466159G	PRICKLE1	NM_153026.3(PRICKLE1):c.775+35T>C	noncoding	Benign
12	42466174	C	T	C42466174T	PRICKLE1	NM_153026.3(PRICKLE1):c.775+20G>A	noncoding	Benign
12	42466225	C	T	C42466225T	PRICKLE1	NM_153026.3(PRICKLE1):c.744G>A:p.Ala248=	coding	Benign
12	42468503	G	C	G42468503C	PRICKLE1	NM_153026.3(PRICKLE1):c.588+123C>G	noncoding	Benign
12	42468629	G	A	G42468629A	PRICKLE1	NM_153026.3(PRICKLE1):c.585C>T:p.Asp195=	coding	Benign
12	42468743	G	A	G42468743A	PRICKLE1	NM_153026.3(PRICKLE1):c.471C>T:p.Val157=	coding	Benign/Likely_benign
12	42468948	T	G	T42468948G	PRICKLE1	NM_153026.3(PRICKLE1):c.385-119A>C	noncoding	Benign
12	42469460	A	G	A42469460G	PRICKLE1	NM_153026.3(PRICKLE1):c.374T>C:p.Val125Ala	coding	Benign
12	42469464	C	T	C42469464T	PRICKLE1	NM_153026.3(PRICKLE1):c.370G>A:p.Ala124Thr	coding	Benign
12	42469999	G	A	G42469999A	PRICKLE1	NM_153026.3(PRICKLE1):c.246+247C>T	noncoding	Benign
12	42470315	G	A	G42470315A	PRICKLE1	NM_153026.3(PRICKLE1):c.177C>T:p.Tyr59=	coding	Benign/Likely_benign
12	42472072	C	T	C42472072T	PRICKLE1	NM_153026.3(PRICKLE1):c.132+313G>A	noncoding	Benign
12	42472263	A	G	A42472263G	PRICKLE1	NM_153026.3(PRICKLE1):c.132+122T>C	noncoding	Benign
12	42472409	G	A	G42472409A	PRICKLE1	NM_153026.3(PRICKLE1):c.108C>T:p.Val36=	coding	Benign/Likely_benign
12	42472857	G	A	G42472857A	PRICKLE1	NM_153026.3(PRICKLE1):c.-48-293C>T	noncoding	Benign
12	42472907	G	A	G42472907A	PRICKLE1	NM_153026.3(PRICKLE1):c.-48-343C>T	noncoding	Benign
12	42589446	G	A	G42589446A	PRICKLE1	NM_153026.3(PRICKLE1):c.-49+19C>T	noncoding	Benign
12	43432445	C	T	C43432445T	ADAMTS20	NM_025003.5(ADAMTS20):c.2955G>A:p.Gly985=	coding	Benign
12	43432787	T	A	T43432787A	ADAMTS20	NM_025003.5(ADAMTS20):c.2745A>T:p.Glu915Asp	coding	Benign
12	43768199	G	T	G43768199T	IRAK4	NM_016123.3(IRAK4):c.88G>T:p.Glu30Ter	coding	Pathogenic
12	43768228	T	A	T43768228A	IRAK4	NM_016123.4(IRAK4):c.117T>A:p.Ile39=	coding	Benign
12	43772190	C	G	C43772190G	IRAK4	NM_016123.3(IRAK4):c.318C>G:p.Pro106=	coding	Benign/Likely_benign
12	43772939	T	A	T43772939A	IRAK4	NM_016123.4(IRAK4):c.518T>A:p.Leu173Ter	coding	Pathogenic
12	43772968	C	T	C43772968T	IRAK4	NM_016123.3(IRAK4):c.547C>T:p.Arg183Ter	coding	Pathogenic
12	43777749	G	T	G43777749T	IRAK4	NM_016123.3(IRAK4):c.831+5G>T	noncoding	Pathogenic
12	43778238	C	T	C43778238T	IRAK4	NM_016123.3(IRAK4):c.877C>T:p.Gln293Ter	coding	Pathogenic
12	43783708	G	A	G43783708A	IRAK4	NM_016123.3(IRAK4):c.1172G>A:p.Arg391His	coding	Benign
12	43786398	G	T	G43786398T	IRAK4	NM_016123.3(IRAK4):c.1189-1G>T	noncoding	Pathogenic
12	43786492	G	A	G43786492A	IRAK4	NM_016123.4(IRAK4):c.1282G>A:p.Ala428Thr	coding	Benign
12	43786861	T	C	T43786861C	IRAK4	NM_016123.3(IRAK4):c.*146T>C	noncoding	Benign
12	43786985	C	T	C43786985T	IRAK4	NM_016123.3(IRAK4):c.*270C>T	noncoding	Benign
12	43787323	A	G	A43787323G	IRAK4	NM_016123.3(IRAK4):c.*608A>G	noncoding	Benign
12	43787338	A	G	A43787338G	IRAK4	NM_016123.3(IRAK4):c.*623A>G	noncoding	Benign
12	43789476	G	A	G43789476A	IRAK4	NM_016123.3(IRAK4):c.*2761G>A	noncoding	Benign
12	45016505	C	T	C45016505T	DBX2	NM_001004329.3(DBX2):c.801G>A:p.Arg267=	coding	Benign
12	45302045	C	T	C45302045T	ANO6	NM_001025356.3(ANO6):c.102C>T:p.Pro34=	coding	Benign
12	45302107	C	T	C45302107T	ANO6	NM_001025356.3(ANO6):c.150+14C>T	noncoding	Benign
12	45331372	G	A	G45331372A	ANO6	NM_001025356.3(ANO6):c.228G>A:p.Glu76=	coding	Benign
12	45348064	G	A	G45348064A	ANO6	NM_001025356.3(ANO6):c.382G>A:p.Ala128Thr	coding	Benign
12	45350652	G	A	G45350652A	ANO6	NM_001025356.3(ANO6):c.748-7G>A	noncoding	Benign
12	45357362	C	T	C45357362T	ANO6	NM_001025356.3(ANO6):c.936C>T:p.Ala312=	coding	Benign
12	45401794	G	T	G45401794T	ANO6	NM_001025356.3(ANO6):c.1387-1G>T	noncoding	Pathogenic
12	45403426	T	C	T45403426C	ANO6	NM_001025356.3(ANO6):c.1783-13T>C	noncoding	Benign
12	45416870	T	C	T45416870C	ANO6	NM_001025356.3(ANO6):c.2183T>C:p.Met728Thr	coding	Benign
12	45429252	G	C	G45429252C	ANO6	NM_001025356.3(ANO6):c.2674G>C:p.Val892Leu	coding	Benign
12	45730131	C	T	C45730131T	ARID2	NM_152641.4(ARID2):c.180C>T:p.Phe60=	coding	Benign
12	45811472	A	C	A45811472C	ARID2	NM_152641.4(ARID2):c.339A>C:p.Val113=	coding	Benign
12	45837497	G	A	G45837497A	ARID2	NM_152641.4(ARID2):c.1121-1G>A	noncoding	Pathogenic
12	45839470	C	G	C45839470G	ARID2	NM_152641.4(ARID2):c.1472C>G:p.Thr491Ser	coding	Benign/Likely_benign
12	45846875	G	A	G45846875A	ARID2	NM_152641.4(ARID2):c.1518G>A:p.Ala506=	coding	Benign
12	45846881	T	C	T45846881C	ARID2	NM_152641.4(ARID2):c.1524T>C:p.His508=	coding	Benign
12	45848947	A	C	A45848947C	ARID2	NM_152641.4(ARID2):c.1692A>C:p.Ser564=	coding	Benign
12	45849623	A	G	A45849623G	ARID2	NM_152641.4(ARID2):c.1759A>G:p.Ser587Gly	coding	Benign
12	45850369	C	T	C45850369T	ARID2	NM_152641.4(ARID2):c.2246C>T:p.Thr749Ile	coding	Benign
12	45850551	G	C	G45850551C	ARID2	NM_152641.4(ARID2):c.2428G>C:p.Ala810Pro	coding	Benign
12	45850634	A	T	A45850634T	ARID2	NM_152641.4(ARID2):c.2511A>T:p.Ser837=	coding	Benign
12	45850644	C	T	C45850644T	ARID2	NM_152641.4(ARID2):c.2521C>T:p.Gln841Ter	coding	Pathogenic
12	45850881	C	T	C45850881T	ARID2	NM_152641.4(ARID2):c.2758C>T:p.Gln920Ter	coding	Pathogenic
12	45850887	A	G	A45850887G	ARID2	NM_152641.4(ARID2):c.2764A>G:p.Thr922Ala	coding	Benign
12	45850995	C	T	C45850995T	ARID2	NM_152641.4(ARID2):c.2872C>T:p.Gln958Ter	coding	Pathogenic
12	45851486	G	A	G45851486A	ARID2	NM_152641.4(ARID2):c.3363G>A:p.Leu1121=	coding	Benign
12	45852311	A	G	A45852311G	ARID2	NM_152641.4(ARID2):c.4188A>G:p.Gln1396=	coding	Benign
12	45852423	G	T	G45852423T	ARID2	NM_152641.4(ARID2):c.4300G>T:p.Ala1434Ser	coding	Benign
12	45852465	C	T	C45852465T	ARID2	NM_152641.4(ARID2):c.4342C>T:p.Leu1448Phe	coding	Benign
12	45852472	G	A	G45852472A	ARID2	NM_152641.4(ARID2):c.4349G>A:p.Gly1450Glu	coding	Benign
12	45852615	G	A	G45852615A	ARID2	NM_152641.4(ARID2):c.4492G>A:p.Ala1498Thr	coding	Benign
12	45852620	A	G	A45852620G	ARID2	NM_152641.4(ARID2):c.4497A>G:p.Leu1499=	coding	Benign
12	45852661	A	G	A45852661G	ARID2	NM_152641.4(ARID2):c.4538A>G:p.Lys1513Arg	coding	Benign
12	45852892	C	T	C45852892T	ARID2	NM_152641.4(ARID2):c.4769C>T:p.Pro1590Leu	coding	Benign
12	45860842	C	T	C45860842T	ARID2	NM_152641.4(ARID2):c.4815C>T:p.Gly1605=	coding	Benign
12	45891802	G	C	G45891802C	ARID2	NM_152641.4(ARID2):c.4945G>C:p.Val1649Leu	coding	Benign
12	45893532	C	T	C45893532T	ARID2	NM_152641.4(ARID2):c.5260C>T:p.Arg1754Ter	coding	Pathogenic
12	45893663	C	T	C45893663T	ARID2	NM_152641.4(ARID2):c.5305C>T:p.Arg1769Ter	coding	Pathogenic
12	45893704	T	G	T45893704G	ARID2	NM_152641.4(ARID2):c.5346T>G:p.Tyr1782Ter	coding	Pathogenic
12	45927148	T	A	T45927148A	SCAF11	NM_004719.3(SCAF11):c.2553A>T:p.Pro851=	coding	Benign
12	45927919	T	C	T45927919C	SCAF11	NM_004719.3(SCAF11):c.1782A>G:p.Glu594=	coding	Benign
12	45945250	A	G	A45945250G	SCAF11	NM_004719.3(SCAF11):c.462T>C:p.His154=	coding	Benign
12	46206102	A	C	A46206102C	SLC38A1	NM_030674.4(SLC38A1):c.624T>G:p.Pro208=	coding	Benign
12	46365162	C	T	C46365162T	SLC38A2	NM_018976.5(SLC38A2):c.591G>A:p.Leu197=	coding	Benign
12	46367083	G	A	G46367083A	SLC38A2	NM_018976.5(SLC38A2):c.474C>T:p.Asn158=	coding	Benign
12	46788026	G	A	G46788026A	SLC38A4	NM_018018.5(SLC38A4):c.216C>T:p.Pro72=	coding	Benign
12	47077521	C	T	C47077521T	AMIGO2	NM_001143668.1(AMIGO2):c.1482G>A:p.Glu494=	coding	Benign
12	47712537	G	A	G47712537A	ENDOU	NM_001172439.2(ENDOU):c.951C>T:p.Tyr317=	coding	Benign
12	47716367	G	A	G47716367A	ENDOU	NM_001172439.2(ENDOU):c.684C>T:p.Asp228=	coding	Benign
12	47716419	C	T	C47716419T	ENDOU	NM_001172439.2(ENDOU):c.632G>A:p.Arg211Gln	coding	Benign
12	47737684	G	A	G47737684A	RAPGEF3	NM_001098531.3(RAPGEF3):c.2655C>T:p.Cys885=	coding	Benign
12	47740985	A	T	A47740985T	RAPGEF3	NM_001098531.3(RAPGEF3):c.1979T>A:p.Leu660Gln	coding	Benign
12	47741043	G	A	G47741043A	RAPGEF3	NM_001098531.3(RAPGEF3):c.1924-3C>T	noncoding	Benign
12	47747550	C	T	C47747550T	RAPGEF3	NM_001098531.3(RAPGEF3):c.1550G>A:p.Cys517Tyr	coding	Benign
12	47748103	G	A	G47748103A	RAPGEF3	NM_001098531.3(RAPGEF3):c.1293C>T:p.Ser431=	coding	Benign
12	47749532	A	G	A47749532G	RAPGEF3	NM_001098531.3(RAPGEF3):c.899T>C:p.Leu300Pro	coding	Benign
12	47757977	C	T	C47757977T	RAPGEF3	NM_001098531.3(RAPGEF3):c.108G>A:p.Pro36=	coding	Benign
12	47791313	G	A	G47791313A	HDAC7	NM_015401.5(HDAC7):c.1934-5C>T	noncoding	Benign
12	47796273	C	T	C47796273T	HDAC7	NM_015401.5(HDAC7):c.729G>A:p.Thr243=	coding	Benign
12	47797021	G	A	G47797021A	HDAC7	NM_015401.5(HDAC7):c.699C>T:p.Leu233=	coding	Benign
12	47797117	G	A	G47797117A	HDAC7	NM_015401.5(HDAC7):c.603C>T:p.Arg201=	coding	Benign
12	47841955	C	T	C47841955T	VDR	NM_000376.3(VDR):c.*2791G>A	noncoding	Benign
12	47842767	G	C	G47842767C	VDR	NM_000376.3(VDR):c.*1979C>G	noncoding	Benign
12	47842840	G	T	G47842840T	VDR	NM_000376.3(VDR):c.*1906C>A	noncoding	Benign
12	47843243	C	T	C47843243T	VDR	NM_000376.3(VDR):c.*1503G>A	noncoding	Benign
12	47843520	A	G	A47843520G	VDR	NM_000376.3(VDR):c.*1226T>C	noncoding	Benign
12	47844285	C	A	C47844285A	VDR	NM_000376.3(VDR):c.*461G>T	noncoding	Benign
12	47844438	G	T	G47844438T	VDR	NM_000376.3(VDR):c.*308C>A	noncoding	Benign
12	47844824	G	T	G47844824T	VDR	NM_000376.3(VDR):c.1206C>A:p.Arg402=	coding	Benign/Likely_benign
12	47844840	T	G	T47844840G	VDR	NM_000376.3(VDR):c.1190A>C:p.His397Pro	coding	Pathogenic
12	47844859	G	A	G47844859A	VDR	NM_000376.3(VDR):c.1171C>T:p.Arg391Cys	coding	Pathogenic
12	47844859	G	T	G47844859T	VDR	NM_000376.3(VDR):c.1171C>A:p.Arg391Ser	coding	Pathogenic
12	47844974	A	G	A47844974G	VDR	NM_000376.3(VDR):c.1056T>C:p.Ile352=	coding	Benign
12	47844994	C	T	C47844994T	VDR	NM_000376.3(VDR):c.1036G>A:p.Val346Met	coding	Pathogenic
12	47846374	C	T	C47846374T	VDR	NM_000376.3(VDR):c.985G>A:p.Glu329Lys	coding	Pathogenic
12	47846418	A	C	A47846418C	VDR	NM_000376.3(VDR):c.941T>G:p.Ile314Ser	coding	Pathogenic
12	47846444	G	C	G47846444C	VDR	NM_000376.3(VDR):c.915C>G:p.His305Gln	coding	Pathogenic
12	47846679	G	T	G47846679T	VDR	NM_000376.3(VDR):c.885C>A:p.Tyr295Ter	coding	Pathogenic
12	47846743	C	A	C47846743A	VDR	NM_000376.3(VDR):c.821G>T:p.Arg274Leu	coding	Pathogenic
12	47857512	G	A	G47857512A	VDR	NM_000376.3(VDR):c.454C>T:p.Gln152Ter	coding	Pathogenic
12	47857522	G	A	G47857522A	VDR	NM_000376.3(VDR):c.444C>T:p.Ser148=	coding	Benign/Likely_benign
12	47865085	C	T	C47865085T	VDR	NM_000376.3(VDR):c.239G>A:p.Arg80Gln	coding	Pathogenic
12	47865175	C	T	C47865175T	VDR	NM_000376.3(VDR):c.149G>A:p.Arg50Gln	coding	Pathogenic
12	47878977	C	T	C47878977T	VDR	NM_000376.3(VDR):c.137G>A:p.Gly46Asp	coding	Pathogenic
12	47879016	C	T	C47879016T	VDR	NM_000376.3(VDR):c.98G>A:p.Gly33Asp	coding	Pathogenic
12	47879026	G	A	G47879026A	VDR	NM_000376.3(VDR):c.88C>T:p.Arg30Ter	coding	Pathogenic
12	47879057	G	A	G47879057A	VDR	NM_000376.3(VDR):c.57C>T:p.Asn19=	coding	Benign
12	47879066	A	G	A47879066G	VDR	NM_000376.3(VDR):c.48T>C:p.Phe16=	coding	Benign
12	47899822	C	G	C47899822G	VDR	NM_000376.3(VDR):c.-84+5133G>C	noncoding	Benign
12	47899933	G	T	G47899933T	VDR	NM_000376.3(VDR):c.-84+5022C>A	coding	Benign
12	47973112	G	A	G47973112A	COL2A1	NM_001844.5(COL2A1):c.*295C>T	noncoding	Benign
12	47973271	G	A	G47973271A	COL2A1	NM_001844.5(COL2A1):c.*136C>T	noncoding	Benign
12	47973403	G	A	G47973403A	COL2A1	NM_001844.5(COL2A1):c.*4C>T	noncoding	Benign
12	47973422	C	T	C47973422T	COL2A1	NM_001844.5(COL2A1):c.4449G>A:p.Pro1483=	coding	Benign
12	47973527	A	G	A47973527G	COL2A1	NM_001844.5(COL2A1):c.4344T>C:p.Thr1448=	coding	Benign/Likely_benign
12	47973544	C	T	C47973544T	COL2A1	NM_001844.5(COL2A1):c.4327G>A:p.Gly1443Ser	coding	Benign
12	47973644	G	A	G47973644A	COL2A1	NM_001844.5(COL2A1):c.4318-91C>T	noncoding	Benign
12	47974046	G	A	G47974046A	COL2A1	NM_001844.5(COL2A1):c.4317+43C>T	noncoding	Benign
12	47974092	G	T	G47974092T	COL2A1	NM_001844.5(COL2A1):c.4314C>A:p.Cys1438Ter	coding	Pathogenic
12	47974193	C	T	C47974193T	COL2A1	NM_001844.5(COL2A1):c.4213G>A:p.Gly1405Ser	coding	Benign
12	47974234	T	C	T47974234C	COL2A1	NM_001844.5(COL2A1):c.4172A>G:p.Tyr1391Cys	coding	Pathogenic
12	47974302	G	A	G47974302A	COL2A1	NM_001844.5(COL2A1):c.4104C>T:p.Pro1368=	coding	Benign/Likely_benign
12	47974345	G	C	G47974345C	COL2A1	NM_001844.5(COL2A1):c.4075-14C>G	noncoding	Benign
12	47974513	C	T	C47974513T	COL2A1	NM_001844.5(COL2A1):c.4074+162G>A	noncoding	Benign
12	47974681	G	A	G47974681A	COL2A1	NM_001844.5(COL2A1):c.4068C>T:p.Gly1356=	coding	Benign
12	47974741	C	T	C47974741T	COL2A1	NM_001844.5(COL2A1):c.4008G>A:p.Trp1336Ter	coding	Pathogenic
12	47974758	C	T	C47974758T	COL2A1	NM_001844.5(COL2A1):c.3991G>A:p.Val1331Ile	coding	Benign
12	47974835	C	T	C47974835T	COL2A1	NM_001844.5(COL2A1):c.3914G>A:p.Gly1305Asp	coding	Pathogenic
12	47974863	C	G	C47974863G	COL2A1	NM_001844.5(COL2A1):c.3887-1G>C	coding	Pathogenic
12	47975110	C	T	C47975110T	COL2A1	NM_001844.5(COL2A1):c.3886+207G>A	noncoding	Benign
12	47975206	A	C	A47975206C	COL2A1	NM_001844.5(COL2A1):c.3886+111T>G	noncoding	Benign
12	47975315	A	G	A47975315G	COL2A1	NM_001844.5(COL2A1):c.3886+2T>C	noncoding	Pathogenic
12	47975324	C	T	C47975324T	COL2A1	NM_001844.5(COL2A1):c.3879G>A:p.Trp1293Ter	coding	Pathogenic
12	47975489	G	T	G47975489T	COL2A1	NM_001844.5(COL2A1):c.3714C>A:p.Tyr1238Ter	coding	Pathogenic
12	47975548	C	G	C47975548G	COL2A1	NM_001844.5(COL2A1):c.3655G>C:p.Asp1219His	coding	Pathogenic
12	47975604	C	T	C47975604T	COL2A1	NM_001844.5(COL2A1):c.3599G>A:p.Gly1200Asp	coding	Pathogenic
12	47975606	C	T	C47975606T	COL2A1	NM_001844.5(COL2A1):c.3598-1G>A	coding	Pathogenic
12	47975624	A	C	A47975624C	COL2A1	NM_001844.5(COL2A1):c.3598-19T>G	noncoding	Benign
12	47975901	G	A	G47975901A	COL2A1	NM_001844.5(COL2A1):c.3597+62C>T	noncoding	Benign
12	47975971	C	T	C47975971T	COL2A1	NM_001844.5(COL2A1):c.3589G>A:p.Gly1197Ser	coding	Pathogenic/Likely_pathogenic
12	47975986	G	A	G47975986A	COL2A1	NM_001844.5(COL2A1):c.3574C>T:p.Arg1192Ter	coding	Pathogenic
12	47976007	C	G	C47976007G	COL2A1	NM_001844.5(COL2A1):c.3553G>C:p.Gly1185Arg	coding	Pathogenic
12	47976026	A	G	A47976026G	COL2A1	NM_001844.5(COL2A1):c.3534T>C:p.Asn1178=	coding	Benign/Likely_benign
12	47976043	C	G	C47976043G	COL2A1	NM_001844.5(COL2A1):c.3517G>C:p.Gly1173Arg	coding	Pathogenic
12	47976052	C	T	C47976052T	COL2A1	NM_001844.5(COL2A1):c.3508G>A:p.Gly1170Ser	coding	Pathogenic
12	47976222	T	A	T47976222A	COL2A1	NM_001844.5(COL2A1):c.3490-152A>T	noncoding	Benign
12	47976549	C	G	C47976549G	COL2A1	NM_001844.5(COL2A1):c.3454G>C:p.Gly1152Arg	coding	Pathogenic
12	47976640	A	G	A47976640G	COL2A1	NM_001844.5(COL2A1):c.3436-73T>C	noncoding	Benign
12	47976863	G	A	G47976863A	COL2A1	NM_001844.5(COL2A1):c.3384C>T:p.Gly1128=	coding	Benign/Likely_benign
12	47976865	C	G	C47976865G	COL2A1	NM_001844.5(COL2A1):c.3382G>C:p.Gly1128Arg	coding	Pathogenic
12	47976939	C	A	C47976939A	COL2A1	NM_001844.5(COL2A1):c.3328-20G>T	noncoding	Benign
12	47977008	A	C	A47977008C	COL2A1	NM_001844.5(COL2A1):c.3328-89T>G	noncoding	Benign
12	47977099	C	T	C47977099T	COL2A1	NM_001844.5(COL2A1):c.3327+3G>A	noncoding	Benign/Likely_benign
12	47977128	C	T	C47977128T	COL2A1	NM_001844.5(COL2A1):c.3301G>A:p.Gly1101Arg	coding	Pathogenic
12	47977228	T	C	T47977228C	COL2A1	NM_001844.5(COL2A1):c.3274-73A>G	noncoding	Benign
12	47977262	A	G	A47977262G	COL2A1	NM_001844.5(COL2A1):c.3273+58T>C	noncoding	Benign
12	47977328	C	T	C47977328T	COL2A1	NM_001844.5(COL2A1):c.3265G>A:p.Gly1089Arg	coding	Pathogenic
12	47977373	C	T	C47977373T	COL2A1	NM_001844.5(COL2A1):c.3220G>A:p.Gly1074Ser	coding	Pathogenic
12	47977390	C	T	C47977390T	COL2A1	NM_001844.5(COL2A1):c.3203G>A:p.Gly1068Glu	coding	Pathogenic
12	47977428	C	T	C47977428T	COL2A1	NM_001844.5(COL2A1):c.3166-1G>A	coding	Pathogenic
12	47977557	T	C	T47977557C	COL2A1	NM_001844.5(COL2A1):c.3165+43A>G	noncoding	Benign
12	47977607	C	T	C47977607T	COL2A1	NM_001844.5(COL2A1):c.3158G>A:p.Gly1053Glu	coding	Pathogenic
12	47977614	C	T	C47977614T	COL2A1	NM_001844.5(COL2A1):c.3151G>A:p.Ala1051Thr	coding	Benign/Likely_benign
12	47977896	C	T	C47977896T	COL2A1	NM_001844.5(COL2A1):c.3111+114G>A	noncoding	Benign
12	47977937	T	G	T47977937G	COL2A1	NM_001844.5(COL2A1):c.3111+73A>C	noncoding	Benign
12	47977984	C	T	C47977984T	COL2A1	NM_001844.5(COL2A1):c.3111+26G>A	noncoding	Benign
12	47978015	G	A	G47978015A	COL2A1	NM_001844.5(COL2A1):c.3106C>T:p.Arg1036Ter	coding	Pathogenic
12	47978019	A	G	A47978019G	COL2A1	NM_001844.5(COL2A1):c.3102T>C:p.Pro1034=	coding	Benign
12	47978098	C	A	C47978098A	COL2A1	NM_001844.5(COL2A1):c.3023G>T:p.Gly1008Val	coding	Pathogenic
12	47978282	C	T	C47978282T	COL2A1	NM_001844.5(COL2A1):c.3003+9G>A	noncoding	Benign/Likely_benign
12	47978294	C	T	C47978294T	COL2A1	NM_001844.5(COL2A1):c.3000G>A:p.Pro1000=	coding	Benign
12	47978320	T	C	T47978320C	COL2A1	NM_001844.5(COL2A1):c.2974A>G:p.Arg992Gly	coding	Pathogenic
12	47978329	G	A	G47978329A	COL2A1	NM_001844.5(COL2A1):c.2965C>T:p.Arg989Cys	coding	Pathogenic
12	47978389	C	T	C47978389T	COL2A1	NM_001844.5(COL2A1):c.2905G>A:p.Gly969Ser	coding	Pathogenic
12	47978638	G	T	G47978638T	COL2A1	NM_001844.5(COL2A1):c.2854C>A:p.Pro952Thr	coding	Benign/Likely_benign
12	47978659	C	T	C47978659T	COL2A1	NM_001844.5(COL2A1):c.2833G>A:p.Gly945Ser	coding	Pathogenic
12	47978667	C	T	C47978667T	COL2A1	NM_001844.5(COL2A1):c.2825G>A:p.Gly942Asp	coding	Pathogenic
12	47978674	G	A	G47978674A	COL2A1	NM_001844.5(COL2A1):c.2818C>T:p.Arg940Ter	coding	Pathogenic
12	47978698	G	A	G47978698A	COL2A1	NM_001844.5(COL2A1):c.2794C>T:p.Arg932Ter	coding	Pathogenic
12	47978957	A	T	A47978957T	COL2A1	NM_001844.5(COL2A1):c.2734-199T>A	noncoding	Benign
12	47979006	C	T	C47979006T	COL2A1	NM_001844.5(COL2A1):c.2734-248G>A	noncoding	Benign
12	47979027	C	T	C47979027T	COL2A1	NM_001844.5(COL2A1):c.2734-269G>A	noncoding	Benign
12	47979272	C	G	C47979272G	COL2A1	NM_001844.5(COL2A1):c.2733+239G>C	noncoding	Benign
12	47979291	A	G	A47979291G	COL2A1	NM_001844.5(COL2A1):c.2733+220T>C	noncoding	Benign
12	47979302	G	A	G47979302A	COL2A1	NM_001844.5(COL2A1):c.2733+209C>T	noncoding	Benign
12	47979314	T	G	T47979314G	COL2A1	NM_001844.5(COL2A1):c.2733+197A>C	noncoding	Benign
12	47979318	G	A	G47979318A	COL2A1	NM_001844.5(COL2A1):c.2733+193C>T	noncoding	Benign
12	47979398	A	G	A47979398G	COL2A1	NM_001844.5(COL2A1):c.2733+113T>C	noncoding	Benign
12	47979519	C	A	C47979519A	COL2A1	NM_001844.5(COL2A1):c.2725G>T:p.Gly909Cys	coding	Pathogenic
12	47979534	G	A	G47979534A	COL2A1	NM_001844.5(COL2A1):c.2710C>T:p.Arg904Cys	coding	Pathogenic
12	47979728	T	C	T47979728C	COL2A1	NM_001844.5(COL2A1):c.2680-164A>G	noncoding	Benign
12	47980008	C	T	C47980008T	COL2A1	NM_001844.5(COL2A1):c.2679+1G>A	noncoding	Pathogenic
12	47980015	G	C	G47980015C	COL2A1	NM_001844.5(COL2A1):c.2673C>G:p.Gly891=	coding	Benign
12	47980017	C	G	C47980017G	COL2A1	NM_001844.5(COL2A1):c.2671G>C:p.Gly891Arg	coding	Pathogenic
12	47980029	G	A	G47980029A	COL2A1	NM_001844.5(COL2A1):c.2659C>T:p.Arg887Ter	coding	Pathogenic
12	47980156	G	A	G47980156A	COL2A1	NM_001844.5(COL2A1):c.2626-94C>T	noncoding	Benign
12	47980228	A	G	A47980228G	COL2A1	NM_001844.5(COL2A1):c.2626-166T>C	noncoding	Benign
12	47980245	T	C	T47980245C	COL2A1	NM_001844.5(COL2A1):c.2626-183A>G	noncoding	Benign
12	47980545	G	A	G47980545A	COL2A1	NM_001844.5(COL2A1):c.2625+9C>T	noncoding	Benign
12	47980561	C	T	C47980561T	COL2A1	NM_001844.5(COL2A1):c.2618G>A:p.Gly873Glu	coding	Pathogenic
12	47980562	C	A	C47980562A	COL2A1	NM_001844.5(COL2A1):c.2617G>T:p.Gly873Trp	coding	Pathogenic
12	47980570	C	A	C47980570A	COL2A1	NM_001844.5(COL2A1):c.2609G>T:p.Gly870Val	coding	Pathogenic
12	47980597	C	T	C47980597T	COL2A1	NM_001844.5(COL2A1):c.2582G>A:p.Gly861Asp	coding	Pathogenic
12	47980613	G	A	G47980613A	COL2A1	NM_001844.5(COL2A1):c.2566C>T:p.Gln856Ter	coding	Pathogenic
12	47980643	C	T	C47980643T	COL2A1	NM_001844.5(COL2A1):c.2536G>A:p.Gly846Arg	coding	Pathogenic
12	47980649	G	A	G47980649A	COL2A1	NM_001844.5(COL2A1):c.2530C>T:p.Gln844Ter	coding	Pathogenic
12	47980730	A	G	A47980730G	COL2A1	NM_001844.5(COL2A1):c.2518-69T>C	noncoding	Benign
12	47980752	G	A	G47980752A	COL2A1	NM_001844.5(COL2A1):c.2518-91C>T	noncoding	Benign
12	47980833	T	C	T47980833C	COL2A1	NM_001844.5(COL2A1):c.2517+82A>G	noncoding	Benign
12	47980940	C	A	C47980940A	COL2A1	NM_001844.5(COL2A1):c.2492G>T:p.Gly831Val	coding	Pathogenic
12	47980941	C	T	C47980941T	COL2A1	NM_001844.5(COL2A1):c.2491G>A:p.Gly831Arg	coding	Pathogenic
12	47980948	C	G	C47980948G	COL2A1	NM_001844.5(COL2A1):c.2484G>C:p.Gly828=	coding	Benign
12	47981043	T	G	T47981043G	COL2A1	NM_001844.5(COL2A1):c.2464-75A>C	noncoding	Benign
12	47981668	G	A	G47981668A	COL2A1	NM_001844.5(COL2A1):c.2409+108C>T	noncoding	Benign
12	47981692	C	G	C47981692G	COL2A1	NM_001844.5(COL2A1):c.2409+84G>C	noncoding	Benign
12	47981785	A	G	A47981785G	COL2A1	NM_001844.5(COL2A1):c.2400T>C:p.Asn800=	coding	Benign
12	47982039	C	T	C47982039T	COL2A1	NM_001844.5(COL2A1):c.2355+68G>A	noncoding	Benign
12	47982106	C	T	C47982106T	COL2A1	NM_001844.5(COL2A1):c.2355+1G>A	noncoding	Pathogenic
12	47982109	G	A	G47982109A	COL2A1	NM_001844.5(COL2A1):c.2353C>T:p.Arg785Ter	coding	Pathogenic
12	47982128	G	A	G47982128A	COL2A1	NM_001844.5(COL2A1):c.2334C>T:p.Ala778=	coding	Benign/Likely_benign
12	47982142	C	T	C47982142T	COL2A1	NM_001844.5(COL2A1):c.2320G>A:p.Gly774Ser	coding	Pathogenic
12	47982162	T	C	T47982162C	COL2A1	NM_001844.5(COL2A1):c.2302-2A>G	noncoding	Pathogenic
12	47982182	C	T	C47982182T	COL2A1	NM_001844.5(COL2A1):c.2302-22G>A	noncoding	Benign
12	47982192	A	G	A47982192G	COL2A1	NM_001844.5(COL2A1):c.2302-32T>C	noncoding	Benign
12	47982293	G	A	G47982293A	COL2A1	NM_001844.5(COL2A1):c.2302-133C>T	noncoding	Benign
12	47982430	G	A	G47982430A	COL2A1	NM_001844.5(COL2A1):c.2301+72C>T	noncoding	Benign
12	47982508	G	A	G47982508A	COL2A1	NM_001844.5(COL2A1):c.2295C>T:p.Gly765=	coding	Benign
12	47982608	C	T	C47982608T	COL2A1	NM_001844.5(COL2A1):c.2195G>A:p.Gly732Asp	coding	Pathogenic
12	47982664	A	G	A47982664G	COL2A1	NM_001844.5(COL2A1):c.2194-55T>C	noncoding	Benign
12	47982720	C	T	C47982720T	COL2A1	NM_001844.5(COL2A1):c.2194-111G>A	noncoding	Benign
12	47982747	C	A	C47982747A	COL2A1	NM_001844.5(COL2A1):c.2193+101G>T	noncoding	Benign
12	47982791	G	A	G47982791A	COL2A1	NM_001844.5(COL2A1):c.2193+57C>T	noncoding	Benign
12	47982816	C	T	C47982816T	COL2A1	NM_001844.5(COL2A1):c.2193+32G>A	noncoding	Benign
12	47982878	G	A	G47982878A	COL2A1	NM_001844.5(COL2A1):c.2163C>T:p.Leu721=	coding	Benign/Likely_benign
12	47982881	G	T	G47982881T	COL2A1	NM_001844.5(COL2A1):c.2160C>A:p.Gly720=	coding	Benign
12	47982886	G	A	G47982886A	COL2A1	NM_001844.5(COL2A1):c.2155C>T:p.Arg719Cys	coding	Pathogenic
12	47982892	C	T	C47982892T	COL2A1	NM_001844.5(COL2A1):c.2149G>A:p.Gly717Ser	coding	Pathogenic
12	47982911	G	A	G47982911A	COL2A1	NM_001844.5(COL2A1):c.2130C>T:p.Pro710=	coding	Benign/Likely_benign
12	47982940	G	A	G47982940A	COL2A1	NM_001844.5(COL2A1):c.2101C>T:p.Arg701Ter	coding	Pathogenic
12	47982950	C	T	C47982950T	COL2A1	NM_001844.5(COL2A1):c.2095-4G>A	noncoding	Benign/Likely_benign
12	47983081	C	G	C47983081G	COL2A1	NM_001844.5(COL2A1):c.2094+12G>C	noncoding	Benign
12	47983086	T	C	T47983086C	COL2A1	NM_001844.5(COL2A1):c.2094+7A>G	noncoding	Benign
12	47983186	C	A	C47983186A	COL2A1	NM_001844.5(COL2A1):c.2050-49G>T	noncoding	Benign
12	47983388	G	A	G47983388A	COL2A1	NM_001844.5(COL2A1):c.2046C>T:p.Asp682=	coding	Benign/Likely_benign
12	47983399	T	A	T47983399A	COL2A1	NM_001844.5(COL2A1):c.2035A>T:p.Lys679Ter	coding	Pathogenic
12	47983410	C	T	C47983410T	COL2A1	NM_001844.5(COL2A1):c.2024G>A:p.Gly675Asp	coding	Pathogenic
12	47983419	C	G	C47983419G	COL2A1	NM_001844.5(COL2A1):c.2015G>C:p.Gly672Ala	coding	Pathogenic
12	47983435	G	A	G47983435A	COL2A1	NM_001844.5(COL2A1):c.1999C>T:p.Leu667Phe	coding	Pathogenic
12	47983439	C	T	C47983439T	COL2A1	NM_001844.5(COL2A1):c.1996-1G>A	coding	Pathogenic
12	47983448	G	A	G47983448A	COL2A1	NM_001844.5(COL2A1):c.1996-10C>T	noncoding	Benign
12	47983699	C	T	C47983699T	COL2A1	NM_001844.5(COL2A1):c.1979G>A:p.Gly660Glu	coding	Pathogenic
12	47983721	G	A	G47983721A	COL2A1	NM_001844.5(COL2A1):c.1957C>T:p.Arg653Ter	coding	Pathogenic
12	47984103	C	A	C47984103A	COL2A1	NM_001844.5(COL2A1):c.1925G>T:p.Gly642Val	coding	Pathogenic
12	47984104	C	A	C47984104A	COL2A1	NM_001844.5(COL2A1):c.1924G>T:p.Gly642Ter	coding	Pathogenic
12	47984104	C	T	C47984104T	COL2A1	NM_001844.5(COL2A1):c.1924G>A:p.Gly642Arg	coding	Pathogenic/Likely_pathogenic
12	47984115	G	A	G47984115A	COL2A1	NM_001844.5(COL2A1):c.1913C>T:p.Thr638Ile	coding	Benign/Likely_benign
12	47984164	G	T	G47984164T	COL2A1	NM_001844.5(COL2A1):c.1888-24C>A	noncoding	Benign
12	47984187	A	G	A47984187G	COL2A1	NM_001844.5(COL2A1):c.1888-47T>C	noncoding	Benign
12	47984597	A	G	A47984597G	COL2A1	NM_001844.5(COL2A1):c.1836T>C:p.Gly612=	coding	Benign
12	47984994	C	T	C47984994T	COL2A1	NM_001844.5(COL2A1):c.1833+1G>A	noncoding	Pathogenic
12	47985012	C	G	C47985012G	COL2A1	NM_001844.5(COL2A1):c.1816G>C:p.Gly606Arg	coding	Pathogenic
12	47985117	A	G	A47985117G	COL2A1	NM_001844.5(COL2A1):c.1735-24T>C	noncoding	Benign
12	47985575	G	A	G47985575A	COL2A1	NM_001844.5(COL2A1):c.1693C>T:p.Arg565Cys	coding	Pathogenic/Likely_pathogenic
12	47985625	C	T	C47985625T	COL2A1	NM_001844.5(COL2A1):c.1681-38G>A	noncoding	Benign
12	47985711	G	A	G47985711A	COL2A1	NM_001844.5(COL2A1):c.1680+17C>T	noncoding	Benign
12	47985727	C	G	C47985727G	COL2A1	NM_001844.5(COL2A1):c.1680+1G>C	noncoding	Pathogenic
12	47985727	C	T	C47985727T	COL2A1	NM_001844.5(COL2A1):c.1680+1G>A	noncoding	Pathogenic
12	47985759	C	A	C47985759A	COL2A1	NM_001844.5(COL2A1):c.1649G>T:p.Arg550Leu	coding	Benign/Likely_benign
12	47985771	C	A	C47985771A	COL2A1	NM_001844.5(COL2A1):c.1637G>T:p.Gly546Val	coding	Pathogenic
12	47985772	C	T	C47985772T	COL2A1	NM_001844.5(COL2A1):c.1636G>A:p.Gly546Ser	coding	Pathogenic/Likely_pathogenic
12	47985811	G	A	G47985811A	COL2A1	NM_001844.5(COL2A1):c.1597C>T:p.Arg533Ter	coding	Pathogenic
12	47985896	C	T	C47985896T	COL2A1	NM_001844.5(COL2A1):c.1581+16G>A	noncoding	Benign
12	47985907	C	T	C47985907T	COL2A1	NM_001844.5(COL2A1):c.1581+5G>A	noncoding	Pathogenic
12	47985946	C	T	C47985946T	COL2A1	NM_001844.5(COL2A1):c.1547G>A:p.Gly516Asp	coding	Pathogenic
12	47985947	C	T	C47985947T	COL2A1	NM_001844.5(COL2A1):c.1546G>A:p.Gly516Ser	coding	Pathogenic/Likely_pathogenic
12	47985948	G	T	G47985948T	COL2A1	NM_001844.5(COL2A1):c.1545C>A:p.Arg515=	coding	Benign/Likely_benign
12	47985956	C	T	C47985956T	COL2A1	NM_001844.5(COL2A1):c.1537G>A:p.Gly513Ser	coding	Pathogenic
12	47985965	C	A	C47985965A	COL2A1	NM_001844.5(COL2A1):c.1528G>T:p.Gly510Cys	coding	Pathogenic
12	47986027	G	A	G47986027A	COL2A1	NM_001844.5(COL2A1):c.1528-62C>T	noncoding	Benign
12	47986073	T	C	T47986073C	COL2A1	NM_001844.5(COL2A1):c.1528-108A>G	noncoding	Benign
12	47986178	A	C	A47986178C	COL2A1	NM_001844.5(COL2A1):c.1527+158T>G	noncoding	Benign
12	47986181	A	G	A47986181G	COL2A1	NM_001844.5(COL2A1):c.1527+155T>C	noncoding	Benign
12	47986201	C	T	C47986201T	COL2A1	NM_001844.5(COL2A1):c.1527+135G>A	noncoding	Pathogenic
12	47986248	A	G	A47986248G	COL2A1	NM_001844.5(COL2A1):c.1527+88T>C	noncoding	Benign
12	47986353	C	A	C47986353A	COL2A1	NM_001844.5(COL2A1):c.1510G>T:p.Gly504Cys	coding	Pathogenic
12	47986353	C	T	C47986353T	COL2A1	NM_001844.5(COL2A1):c.1510G>A:p.Gly504Ser	coding	Pathogenic
12	47986388	C	A	C47986388A	COL2A1	NM_001844.5(COL2A1):c.1475G>T:p.Gly492Val	coding	Pathogenic
12	47986445	T	G	T47986445G	COL2A1	NM_001844.5(COL2A1):c.1420-2A>C	noncoding	Pathogenic
12	47986855	G	A	G47986855A	COL2A1	NM_001844.5(COL2A1):c.1399C>T:p.Gln467Ter	coding	Pathogenic
12	47986885	C	A	C47986885A	COL2A1	NM_001844.5(COL2A1):c.1369G>T:p.Glu457Ter	coding	Pathogenic
12	47986899	G	A	G47986899A	COL2A1	NM_001844.5(COL2A1):c.1366-11C>T	noncoding	Benign
12	47987085	C	G	C47987085G	COL2A1	NM_001844.5(COL2A1):c.1358G>C:p.Gly453Ala	coding	Pathogenic
12	47987113	C	T	C47987113T	COL2A1	NM_001844.5(COL2A1):c.1330G>A:p.Gly444Ser	coding	Pathogenic
12	47987156	A	G	A47987156G	COL2A1	NM_001844.5(COL2A1):c.1287T>C:p.Gly429=	coding	Benign/Likely_benign
12	47987175	C	T	C47987175T	COL2A1	NM_001844.5(COL2A1):c.1268G>A:p.Gly423Asp	coding	Pathogenic
12	47987262	C	T	C47987262T	COL2A1	NM_001844.5(COL2A1):c.1266+7G>A	noncoding	Benign
12	47987591	C	G	C47987591G	COL2A1	NM_001844.5(COL2A1):c.1221+20G>C	noncoding	Benign
12	47987611	G	A	G47987611A	COL2A1	NM_001844.5(COL2A1):c.1221C>T:p.Ser407=	coding	Benign/Likely_benign
12	47987655	C	T	C47987655T	COL2A1	NM_001844.5(COL2A1):c.1177G>A:p.Gly393Ser	coding	Pathogenic
12	47987703	C	T	C47987703T	COL2A1	NM_001844.5(COL2A1):c.1129G>A:p.Ala377Thr	coding	Pathogenic
12	47987710	C	T	C47987710T	COL2A1	NM_001844.5(COL2A1):c.1123-1G>A	coding	Pathogenic
12	47987973	G	C	G47987973C	COL2A1	NM_001844.5(COL2A1):c.1123-264C>G	noncoding	Benign
12	47989236	C	T	C47989236T	COL2A1	NM_001844.5(COL2A1):c.1114G>A:p.Gly372Arg	coding	Pathogenic
12	47989245	C	G	C47989245G	COL2A1	NM_001844.5(COL2A1):c.1105G>C:p.Gly369Arg	coding	Pathogenic
12	47989769	C	T	C47989769T	COL2A1	NM_001844.5(COL2A1):c.1060G>A:p.Gly354Arg	coding	Pathogenic
12	47989795	C	T	C47989795T	COL2A1	NM_001844.5(COL2A1):c.1034G>A:p.Gly345Asp	coding	Pathogenic
12	47989799	G	A	G47989799A	COL2A1	NM_001844.5(COL2A1):c.1030C>T:p.Arg344Ter	coding	Pathogenic
12	47992770	A	G	A47992770G	COL2A1	NM_001844.5(COL2A1):c.1023+108T>C	noncoding	Benign
12	47992794	G	T	G47992794T	COL2A1	NM_001844.5(COL2A1):c.1023+84C>A	noncoding	Benign
12	47992877	C	T	C47992877T	COL2A1	NM_001844.5(COL2A1):c.1023+1G>A	noncoding	Pathogenic
12	47993242	T	A	T47993242A	COL2A1	NM_001844.5(COL2A1):c.969+216A>T	noncoding	Benign
12	47993269	A	C	A47993269C	COL2A1	NM_001844.5(COL2A1):c.969+189T>G	noncoding	Benign
12	47993475	C	T	C47993475T	COL2A1	NM_001844.5(COL2A1):c.952G>A:p.Gly318Arg	coding	Pathogenic
12	47993825	C	T	C47993825T	COL2A1	NM_001844.5(COL2A1):c.908G>A:p.Gly303Asp	coding	Pathogenic
12	47993828	G	A	G47993828A	COL2A1	NM_001844.5(COL2A1):c.905C>T:p.Ala302Val	coding	Pathogenic
12	47994041	G	A	G47994041A	COL2A1	NM_001844.5(COL2A1):c.823C>T:p.Arg275Cys	coding	Pathogenic
12	47994367	G	A	G47994367A	COL2A1	NM_001844.5(COL2A1):c.816+57C>T	noncoding	Benign
12	47994440	C	T	C47994440T	COL2A1	NM_001844.5(COL2A1):c.800G>A:p.Gly267Asp	coding	Pathogenic
12	47995047	C	T	C47995047T	COL2A1	NM_001844.5(COL2A1):c.762+208G>A	noncoding	Benign
12	47995073	A	C	A47995073C	COL2A1	NM_001844.5(COL2A1):c.762+182T>G	noncoding	Benign
12	47995240	C	T	C47995240T	COL2A1	NM_001844.5(COL2A1):c.762+15G>A	noncoding	Benign
12	47995254	C	T	C47995254T	COL2A1	NM_001844.5(COL2A1):c.762+1G>A	noncoding	Pathogenic
12	47995298	C	T	C47995298T	COL2A1	NM_001844.5(COL2A1):c.719G>A:p.Gly240Asp	coding	Pathogenic
12	47995310	T	C	T47995310C	COL2A1	NM_001844.5(COL2A1):c.709-2A>G	noncoding	Pathogenic
12	47995316	C	A	C47995316A	COL2A1	NM_001844.5(COL2A1):c.709-8G>T	noncoding	Benign/Likely_benign
12	47995702	G	A	G47995702A	COL2A1	NM_001844.5(COL2A1):c.708+8C>T	noncoding	Benign/Likely_benign
12	47995763	C	T	C47995763T	COL2A1	NM_001844.5(COL2A1):c.655G>A:p.Gly219Arg	coding	Pathogenic
12	47995860	A	C	A47995860C	COL2A1	NM_001844.5(COL2A1):c.654+15T>G	noncoding	Benign
12	47995904	G	A	G47995904A	COL2A1	NM_001844.5(COL2A1):c.625C>T:p.Arg209Ter	coding	Pathogenic
12	47995910	C	T	C47995910T	COL2A1	NM_001844.5(COL2A1):c.619G>A:p.Gly207Arg	coding	Pathogenic
12	47995926	C	T	C47995926T	COL2A1	NM_001844.5(COL2A1):c.610-7G>A	noncoding	Benign
12	47995953	A	G	A47995953G	COL2A1	NM_001844.5(COL2A1):c.610-34T>C	noncoding	Benign
12	47996297	T	C	T47996297C	COL2A1	NM_001844.5(COL2A1):c.609+251A>G	noncoding	Benign
12	47996613	G	A	G47996613A	COL2A1	NM_001844.5(COL2A1):c.544C>T:p.Gln182Ter	coding	Pathogenic
12	47996616	C	A	C47996616A	COL2A1	NM_001844.5(COL2A1):c.541G>T:p.Ala181Ser	coding	Benign
12	47996616	C	G	C47996616G	COL2A1	NM_001844.5(COL2A1):c.541G>C:p.Ala181Pro	coding	Pathogenic
12	47996652	A	T	A47996652T	COL2A1	NM_001844.5(COL2A1):c.532-27T>A	noncoding	Benign
12	47997272	G	A	G47997272A	COL2A1	NM_001844.5(COL2A1):c.531+334C>T	noncoding	Benign
12	47997311	C	T	C47997311T	COL2A1	NM_001844.5(COL2A1):c.531+295G>A	noncoding	Benign
12	47997344	C	T	C47997344T	COL2A1	NM_001844.5(COL2A1):c.531+262G>A	noncoding	Benign
12	47997630	G	A	G47997630A	COL2A1	NM_001844.5(COL2A1):c.507C>T:p.Pro169=	coding	Benign/Likely_benign
12	47997633	G	T	G47997633T	COL2A1	NM_001844.5(COL2A1):c.504C>A:p.Gly168=	coding	Benign
12	47997874	T	A	T47997874A	COL2A1	NM_001844.5(COL2A1):c.426A>T:p.Glu142Asp	coding	Benign
12	47998201	C	A	C47998201A	COL2A1	NM_001844.5(COL2A1):c.310G>T:p.Gly104Ter	coding	Pathogenic
12	47998650	A	G	A47998650G	COL2A1	NM_001844.5(COL2A1):c.293-219T>C	noncoding	Benign
12	47999661	C	A	C47999661A	COL2A1	NM_001844.5(COL2A1):c.292+258G>T	noncoding	Benign
12	47999661	C	T	C47999661T	COL2A1	NM_001844.5(COL2A1):c.292+258G>A	noncoding	Benign
12	47999743	G	A	G47999743A	COL2A1	NM_001844.5(COL2A1):c.292+176C>T	noncoding	Benign
12	47999953	G	T	G47999953T	COL2A1	NM_001844.5(COL2A1):c.258C>A:p.Cys86Ter	coding	Pathogenic
12	47999998	G	A	G47999998A	COL2A1	NM_001844.5(COL2A1):c.213C>T:p.Asp71=	coding	Benign/Likely_benign
12	48000019	G	T	G48000019T	COL2A1	NM_001844.5(COL2A1):c.192C>A:p.Cys64Ter	coding	Pathogenic
12	48000041	C	T	C48000041T	COL2A1	NM_001844.5(COL2A1):c.170G>A:p.Cys57Tyr	coding	Pathogenic
12	48000070	C	T	C48000070T	COL2A1	NM_001844.5(COL2A1):c.141G>A:p.Trp47Ter	coding	Pathogenic
12	48000096	G	A	G48000096A	COL2A1	NM_001844.5(COL2A1):c.115C>T:p.Gln39Ter	coding	Pathogenic
12	48004141	G	C	G48004141C	COL2A1	NM_001844.5(COL2A1):c.85+96C>G	noncoding	Benign
12	48004160	C	G	C48004160G	COL2A1	NM_001844.5(COL2A1):c.85+77G>C	noncoding	Benign
12	48004219	G	C	G48004219C	COL2A1	NM_001844.5(COL2A1):c.85+18C>G	noncoding	Benign
12	48004236	C	G	C48004236G	COL2A1	NM_001844.5(COL2A1):c.85+1G>C	noncoding	Pathogenic
12	48004237	G	A	G48004237A	COL2A1	NM_001844.5(COL2A1):c.85C>T:p.Gln29Ter	coding	Pathogenic
12	48004297	T	A	T48004297A	COL2A1	NM_001844.5(COL2A1):c.25A>T:p.Thr9Ser	coding	Benign
12	48004305	G	T	G48004305T	COL2A1	NM_001844.5(COL2A1):c.17C>A:p.Ala6Asp	coding	Benign/Likely_benign
12	48004440	G	A	G48004440A	COL2A1	NM_001844.5(COL2A1):c.-119C>T	noncoding	Benign
12	48004508	C	T	C48004508T	COL2A1	NM_001844.4(COL2A1):c.-187G>A	noncoding	Benign/Likely_benign
12	48004567	C	A	C48004567A	COL2A1	NC_000012.12:g.48004567C>A	noncoding	Benign
12	48065129	T	C	T48065129C	SENP1	NM_001267594.2(SENP1):c.1211A>G:p.Gln404Arg	coding	Benign
12	48088943	T	C	T48088943C	SENP1	NM_001267594.2(SENP1):c.238A>G:p.Ser80Gly	coding	Benign
12	48119303	T	G	T48119303G	PFKM	NM_001166686.2(PFKM):c.206-3464T>G	coding	Benign
12	48122310	C	A	C48122310A	PFKM	NM_000289.6(PFKM):c.-8-457C>A	noncoding	Benign
12	48122513	T	C	T48122513C	PFKM	NM_000289.6(PFKM):c.-8-254T>C	noncoding	Benign
12	48122681	G	T	G48122681T	PFKM	NM_000289.6(PFKM):c.-8-86G>T	coding	Benign
12	48130393	G	T	G48130393T	PFKM	NM_000289.6(PFKM):c.116G>T:p.Arg39Leu	coding	Pathogenic
12	48131021	A	G	A48131021G	PFKM	NM_000289.6(PFKM):c.160-295A>G	noncoding	Benign
12	48131394	G	A	G48131394A	PFKM	NM_000289.6(PFKM):c.237+1G>A	coding	Pathogenic/Likely_pathogenic
12	48131581	G	A	G48131581A	PFKM	NM_000289.6(PFKM):c.237+188G>A	noncoding	Benign
12	48131594	G	A	G48131594A	PFKM	NM_000289.6(PFKM):c.237+201G>A	noncoding	Benign
12	48132577	A	G	A48132577G	PFKM	NM_000289.6(PFKM):c.238-291A>G	noncoding	Benign
12	48132876	G	A	G48132876A	PFKM	NM_000289.6(PFKM):c.246G>A:p.Thr82=	coding	Benign
12	48132913	C	T	C48132913T	PFKM	NM_000289.6(PFKM):c.283C>T:p.Arg95Ter	coding	Pathogenic/Likely_pathogenic
12	48132922	C	T	C48132922T	PFKM	NM_000289.6(PFKM):c.292C>T:p.Arg98Ter	coding	Pathogenic
12	48132929	G	A	G48132929A	PFKM	NM_000289.6(PFKM):c.299G>A:p.Arg100Gln	coding	Benign
12	48132936	C	T	C48132936T	PFKM	NM_000289.6(PFKM):c.306C>T:p.Ala102=	coding	Benign
12	48133109	G	A	G48133109A	PFKM	NM_000289.6(PFKM):c.427+52G>A	noncoding	Benign
12	48133186	T	G	T48133186G	PFKM	NM_000289.6(PFKM):c.427+129T>G	noncoding	Benign
12	48133276	G	A	G48133276A	PFKM	NM_000289.6(PFKM):c.428-39G>A	noncoding	Benign
12	48133313	A	C	A48133313C	PFKM	NM_000289.6(PFKM):c.428-2A>C	noncoding	Pathogenic
12	48133403	C	T	C48133403T	PFKM	NM_000289.6(PFKM):c.516C>T:p.Thr172=	coding	Benign
12	48133932	C	T	C48133932T	PFKM	NM_000289.6(PFKM):c.594-300C>T	noncoding	Benign
12	48134437	C	T	C48134437T	PFKM	NM_000289.6(PFKM):c.638+161C>T	noncoding	Benign
12	48134636	T	C	T48134636C	PFKM	NM_000289.6(PFKM):c.639-85T>C	noncoding	Benign
12	48134784	A	T	A48134784T	PFKM	NM_000289.6(PFKM):c.702A>T:p.Pro234=	coding	Benign/Likely_benign
12	48135335	G	A	G48135335A	PFKM	NM_000289.6(PFKM):c.888G>A:p.Leu296=	coding	Benign
12	48135611	C	A	C48135611A	PFKM	NM_000289.6(PFKM):c.936+228C>A	noncoding	Benign
12	48138134	T	A	T48138134A	PFKM	NM_000289.6(PFKM):c.1062+288T>A	noncoding	Benign
12	48140505	T	G	T48140505G	PFKM	NM_000289.6(PFKM):c.1192-217T>G	noncoding	Benign
12	48140868	G	A	G48140868A	PFKM	NM_000289.6(PFKM):c.1338G>A:p.Gly446=	coding	Benign/Likely_benign
12	48140869	C	A	C48140869A	PFKM	NM_000289.6(PFKM):c.1339C>A:p.Gln447Lys	coding	Benign/Likely_benign
12	48140872	G	T	G48140872T	PFKM	NM_000289.6(PFKM):c.1341+1G>T	coding	Pathogenic
12	48141297	G	T	G48141297T	PFKM	NM_000289.6(PFKM):c.1342-14G>T	noncoding	Benign
12	48141370	T	C	T48141370C	PFKM	NM_000289.6(PFKM):c.1401T>C:p.Leu467=	coding	Benign/Likely_benign
12	48141738	A	G	A48141738G	PFKM	NM_000289.6(PFKM):c.1413-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	48141859	C	T	C48141859T	PFKM	NM_000289.6(PFKM):c.1500+32C>T	noncoding	Benign/Likely_benign
12	48142041	A	C	A48142041C	PFKM	NM_000289.6(PFKM):c.1628A>C:p.Asp543Ala	coding	Pathogenic
12	48143841	A	G	A48143841G	PFKM	NM_000289.6(PFKM):c.1880+27A>G	noncoding	Benign
12	48143846	G	C	G48143846C	PFKM	NM_000289.6(PFKM):c.1880+32G>C	noncoding	Benign
12	48144832	A	G	A48144832G	PFKM	NM_000289.6(PFKM):c.1993-199A>G	noncoding	Benign
12	48145078	C	T	C48145078T	PFKM	NM_000289.6(PFKM):c.2040C>T:p.Gly680=	coding	Benign
12	48145096	G	T	G48145096T	PFKM	NM_000289.6(PFKM):c.2058G>T:p.Trp686Cys	coding	Pathogenic
12	48145196	A	G	A48145196G	PFKM	NM_000289.6(PFKM):c.2093-14A>G	noncoding	Benign
12	48145699	T	G	T48145699G	PFKM	NM_000289.6(PFKM):c.2334T>G:p.Ala778=	coding	Benign
12	48145871	G	A	G48145871A	PFKM	NM_000289.6(PFKM):c.*163G>A	noncoding	Benign
12	48145990	C	T	C48145990T	PFKM	NM_000289.6(PFKM):c.*282C>T	noncoding	Benign
12	48768972	G	A	G48768972A	ADCY6	NM_015270.5(ADCY6):c.3346C>T:p.Arg1116Cys	coding	Pathogenic
12	48769027	G	A	G48769027A	ADCY6	NM_015270.5(ADCY6):c.3291C>T:p.Ile1097=	coding	Benign
12	48774438	G	A	G48774438A	ADCY6	NM_015270.5(ADCY6):c.2247C>T:p.Ser749=	coding	Benign
12	48775006	G	T	G48775006T	ADCY6	NM_015270.5(ADCY6):c.2029C>A:p.Leu677Met	coding	Benign
12	48776077	G	A	G48776077A	ADCY6	NM_015270.5(ADCY6):c.1692C>T:p.Ala564=	coding	Benign
12	48776095	T	C	T48776095C	ADCY6	NM_015270.5(ADCY6):c.1678-4A>G	noncoding	Benign
12	48776246	A	G	A48776246G	ADCY6	NM_015270.5(ADCY6):c.1640T>C:p.Ile547Thr	coding	Benign
12	48776553	G	A	G48776553A	ADCY6	NM_015270.5(ADCY6):c.1410C>T:p.Asn470=	coding	Benign
12	48777169	C	A	C48777169A	ADCY6	NM_015270.5(ADCY6):c.1311G>T:p.Pro437=	coding	Benign
12	48782724	C	T	C48782724T	ADCY6	NM_015270.5(ADCY6):c.711G>A:p.Ala237=	coding	Benign
12	48824661	C	A	C48824661A	CACNB3	NM_000725.4(CACNB3):c.408-8C>A	noncoding	Benign
12	48836716	A	G	A48836716G	DDX23	NM_004818.3(DDX23):c.1089T>C:p.Asp363=	coding	Benign
12	48914478	C	T	C48914478T	CCDC65	NM_033124.5(CCDC65):c.375C>T:p.Asp125=	coding	Benign
12	48914501	A	G	A48914501G	CCDC65	NM_033124.5(CCDC65):c.398A>G:p.His133Arg	coding	Benign
12	48917004	C	A	C48917004A	CCDC65	NM_033124.5(CCDC65):c.505C>A:p.His169Asn	coding	Benign
12	48918323	G	T	G48918323T	CCDC65	NM_033124.5(CCDC65):c.658G>T:p.Glu220Ter	coding	Pathogenic
12	48918325	A	G	A48918325G	CCDC65	NM_033124.5(CCDC65):c.660A>G:p.Glu220=	coding	Benign
12	48918331	G	A	G48918331A	CCDC65	NM_033124.5(CCDC65):c.666G>A:p.Leu222=	coding	Benign
12	48918383	C	T	C48918383T	CCDC65	NM_033124.5(CCDC65):c.718C>T:p.Arg240Ter	coding	Pathogenic
12	48918757	C	T	C48918757T	CCDC65	NM_033124.5(CCDC65):c.880C>T:p.Arg294Cys	coding	Benign
12	48918810	A	G	A48918810G	CCDC65	NM_033124.5(CCDC65):c.933A>G:p.Arg311=	coding	Benign
12	48918898	G	T	G48918898T	CCDC65	NM_033124.5(CCDC65):c.1021G>T:p.Asp341Tyr	coding	Benign
12	48921037	G	A	G48921037A	CCDC65	NM_033124.5(CCDC65):c.1134G>A:p.Gly378=	coding	Benign
12	48921079	C	A	C48921079A	CCDC65	NM_033124.5(CCDC65):c.1176C>A:p.Thr392=	coding	Benign
12	48921160	A	C	A48921160C	CCDC65	NM_033124.5(CCDC65):c.1180-8A>C	noncoding	Benign
12	48921211	A	G	A48921211G	CCDC65	NM_033124.5(CCDC65):c.1223A>G:p.Tyr408Cys	coding	Benign
12	48921403	G	A	G48921403A	CCDC65	NM_033124.5(CCDC65):c.1415G>A:p.Arg472His	coding	Benign
12	48921417	G	A	G48921417A	CCDC65	NM_033124.5(CCDC65):c.1429G>A:p.Gly477Ser	coding	Benign
12	48966271	G	A	G48966271A	WNT10B	NM_003394.4(WNT10B):c.994C>T:p.Arg332Trp	coding	Pathogenic
12	48966364	G	A	G48966364A	WNT10B	NM_003394.4(WNT10B):c.901C>T:p.Pro301Ser	coding	Benign
12	48966479	C	T	C48966479T	WNT10B	NM_003394.4(WNT10B):c.786G>A:p.Trp262Ter	coding	Pathogenic
12	48968025	C	T	C48968025T	WNT10B	NM_003394.4(WNT10B):c.632G>A:p.Arg211Gln	coding	Pathogenic
12	48970316	G	C	G48970316C	WNT10B	NM_003394.4(WNT10B):c.110C>G:p.Pro37Arg	coding	Benign
12	48970494	C	T	C48970494T	WNT10B	NM_003394.4(WNT10B):c.36G>A:p.Ser12=	coding	Benign
12	48978304	C	A	C48978304A	WNT1	NC_000012.12:g.48978304C>A	noncoding	Benign
12	48980429	C	T	C48980429T	WNT1	NM_005430.4(WNT1):c.364C>T:p.Arg122Ter	coding	Pathogenic
12	48980630	G	T	G48980630T	WNT1	NM_005430.4(WNT1):c.565G>T:p.Glu189Ter	coding	Pathogenic
12	48980693	A	G	A48980693G	WNT1	NM_005430.4(WNT1):c.624+4A>G	noncoding	Pathogenic
12	48981411	C	A	C48981411A	WNT1	NM_005430.4(WNT1):c.884C>A:p.Ser295Ter	coding	Pathogenic
12	48997803	G	C	G48997803C	DDN	NM_015086.2(DDN):c.1073C>G:p.Pro358Arg	coding	Benign
12	49021795	C	T	C49021795T	KMT2D	NM_003482.3(KMT2D):c.16599G>A:p.Arg5533=	coding	Benign/Likely_benign
12	49021873	C	T	C49021873T	KMT2D	NM_003482.3(KMT2D):c.16522-1G>A	coding	Pathogenic
12	49022063	G	A	G49022063A	KMT2D	NM_003482.3(KMT2D):c.16501C>T:p.Arg5501Ter	coding	Pathogenic/Likely_pathogenic
12	49022279	C	A	C49022279A	KMT2D	NM_003482.3(KMT2D):c.16412+1G>T	noncoding	Pathogenic
12	49022332	G	A	G49022332A	KMT2D	NM_003482.3(KMT2D):c.16360C>T:p.Arg5454Ter	coding	Pathogenic
12	49022350	G	A	G49022350A	KMT2D	NM_003482.3(KMT2D):c.16342C>T:p.Arg5448Ter	coding	Pathogenic/Likely_pathogenic
12	49022634	G	A	G49022634A	KMT2D	NM_003482.3(KMT2D):c.16294C>T:p.Arg5432Trp	coding	Pathogenic
12	49022744	C	T	C49022744T	KMT2D	NM_003482.3(KMT2D):c.16184G>A:p.Trp5395Ter	coding	Pathogenic
12	49024578	C	T	C49024578T	KMT2D	NM_003482.3(KMT2D):c.16052G>A:p.Arg5351Gln	coding	Pathogenic
12	49024612	G	A	G49024612A	KMT2D	NM_003482.3(KMT2D):c.16018C>T:p.Arg5340Ter	coding	Pathogenic
12	49024652	A	C	A49024652C	KMT2D	NM_003482.3(KMT2D):c.15978T>G:p.Leu5326=	coding	Benign
12	49024687	G	A	G49024687A	KMT2D	NM_003482.3(KMT2D):c.15943C>T:p.Gln5315Ter	coding	Pathogenic
12	49024811	G	C	G49024811C	KMT2D	NM_003482.4(KMT2D):c.15920C>G:p.Ser5307Ter	coding	Pathogenic
12	49024887	G	A	G49024887A	KMT2D	NM_003482.3(KMT2D):c.15844C>T:p.Arg5282Ter	coding	Pathogenic
12	49024940	C	T	C49024940T	KMT2D	NM_003482.3(KMT2D):c.15791G>A:p.Trp5264Ter	coding	Pathogenic
12	49026185	G	A	G49026185A	KMT2D	NM_003482.4(KMT2D):c.15781C>T:p.Gln5261Ter	coding	Pathogenic
12	49026236	T	A	T49026236A	KMT2D	NM_003482.4(KMT2D):c.15730A>T:p.Lys5244Ter	coding	Pathogenic
12	49026293	G	A	G49026293A	KMT2D	NM_003482.4(KMT2D):c.15673C>T:p.Arg5225Cys	coding	Pathogenic
12	49026325	C	G	C49026325G	KMT2D	NM_003482.3(KMT2D):c.15641G>C:p.Arg5214Pro	coding	Pathogenic
12	49026325	C	T	C49026325T	KMT2D	NM_003482.3(KMT2D):c.15641G>A:p.Arg5214His	coding	Pathogenic/Likely_pathogenic
12	49026326	G	A	G49026326A	KMT2D	NM_003482.3(KMT2D):c.15640C>T:p.Arg5214Cys	coding	Pathogenic
12	49026345	G	A	G49026345A	KMT2D	NM_003482.4(KMT2D):c.15621C>T:p.Pro5207=	coding	Benign
12	49026411	G	A	G49026411A	KMT2D	NM_003482.3(KMT2D):c.15555C>T:p.Phe5185=	coding	Benign
12	49026426	C	G	C49026426G	KMT2D	NM_003482.3(KMT2D):c.15540G>C:p.Val5180=	coding	Benign/Likely_benign
12	49026430	C	T	C49026430T	KMT2D	NM_003482.3(KMT2D):c.15536G>A:p.Arg5179His	coding	Pathogenic/Likely_pathogenic
12	49026431	G	A	G49026431A	KMT2D	NM_003482.3(KMT2D):c.15535C>T:p.Arg5179Cys	coding	Pathogenic
12	49026505	C	T	C49026505T	KMT2D	NM_003482.3(KMT2D):c.15461G>A:p.Arg5154Gln	coding	Pathogenic/Likely_pathogenic
12	49026617	A	C	A49026617C	KMT2D	NM_003482.4(KMT2D):c.15349T>G:p.Cys5117Gly	coding	Pathogenic
12	49026677	G	A	G49026677A	KMT2D	NM_003482.4(KMT2D):c.15289C>T:p.Arg5097Ter	coding	Pathogenic
12	49026710	G	A	G49026710A	KMT2D	NM_003482.3(KMT2D):c.15256C>T:p.Arg5086Ter	coding	Pathogenic
12	49026771	C	T	C49026771T	KMT2D	NM_003482.3(KMT2D):c.15195G>A:p.Trp5065Ter	coding	Pathogenic
12	49026781	C	T	C49026781T	KMT2D	NM_003482.4(KMT2D):c.15185G>A:p.Cys5062Tyr	coding	Pathogenic
12	49026795	C	T	C49026795T	KMT2D	NM_003482.4(KMT2D):c.15171G>A:p.Trp5057Ter	coding	Pathogenic
12	49026823	C	T	C49026823T	KMT2D	NM_003482.3(KMT2D):c.15143G>A:p.Arg5048His	coding	Pathogenic/Likely_pathogenic
12	49026887	G	A	G49026887A	KMT2D	NM_003482.3(KMT2D):c.15079C>T:p.Arg5027Ter	coding	Pathogenic
12	49026905	G	A	G49026905A	KMT2D	NM_003482.3(KMT2D):c.15061C>T:p.Arg5021Ter	coding	Pathogenic/Likely_pathogenic
12	49027021	C	T	C49027021T	KMT2D	NM_003482.4(KMT2D):c.14945G>A:p.Trp4982Ter	coding	Pathogenic
12	49027088	G	A	G49027088A	KMT2D	NM_003482.3(KMT2D):c.14878C>T:p.Arg4960Ter	coding	Pathogenic
12	49027123	G	C	G49027123C	KMT2D	NM_003482.3(KMT2D):c.14843C>G:p.Ser4948Ter	coding	Pathogenic
12	49027137	C	T	C49027137T	KMT2D	NM_003482.3(KMT2D):c.14829G>A:p.Glu4943=	coding	Benign
12	49027163	C	A	C49027163A	KMT2D	NM_003482.4(KMT2D):c.14803G>T:p.Glu4935Ter	coding	Pathogenic
12	49027253	G	A	G49027253A	KMT2D	NM_003482.3(KMT2D):c.14713C>T:p.Gln4905Ter	coding	Pathogenic/Likely_pathogenic
12	49027256	G	A	G49027256A	KMT2D	NM_003482.3(KMT2D):c.14710C>T:p.Arg4904Ter	coding	Pathogenic
12	49027278	G	T	G49027278T	KMT2D	NM_003482.3(KMT2D):c.14688C>A:p.Tyr4896Ter	coding	Pathogenic
12	49027811	G	A	G49027811A	KMT2D	NM_003482.4(KMT2D):c.14635C>T:p.Leu4879=	coding	Benign
12	49027871	G	A	G49027871A	KMT2D	NM_003482.4(KMT2D):c.14575C>T:p.Gln4859Ter	coding	Pathogenic
12	49027878	C	T	C49027878T	KMT2D	NM_003482.3(KMT2D):c.14568G>A:p.Trp4856Ter	coding	Pathogenic
12	49029043	A	G	A49029043G	KMT2D	NM_003482.3(KMT2D):c.14251+18T>C	noncoding	Benign
12	49029074	C	T	C49029074T	KMT2D	NM_003482.3(KMT2D):c.14238G>A:p.Arg4746=	coding	Benign
12	49029110	G	A	G49029110A	KMT2D	NM_003482.3(KMT2D):c.14202C>T:p.Asp4734=	coding	Benign
12	49029118	G	A	G49029118A	KMT2D	NM_003482.3(KMT2D):c.14194C>T:p.Gln4732Ter	coding	Pathogenic
12	49029119	C	T	C49029119T	KMT2D	NM_003482.3(KMT2D):c.14193G>A:p.Glu4731=	coding	Benign/Likely_benign
12	49029123	C	T	C49029123T	KMT2D	NM_003482.3(KMT2D):c.14189G>A:p.Trp4730Ter	coding	Pathogenic/Likely_pathogenic
12	49029237	C	T	C49029237T	KMT2D	NM_003482.4(KMT2D):c.14076-1G>A	coding	Pathogenic
12	49029400	C	T	C49029400T	KMT2D	NM_003482.3(KMT2D):c.14075+1G>A	noncoding	Pathogenic
12	49030279	C	T	C49030279T	KMT2D	NM_003482.3(KMT2D):c.13999+1G>A	noncoding	Pathogenic
12	49030622	G	C	G49030622C	KMT2D	NM_003482.3(KMT2D):c.13818C>G:p.Tyr4606Ter	coding	Pathogenic
12	49030751	G	A	G49030751A	KMT2D	NM_003482.3(KMT2D):c.13689C>T:p.Pro4563=	coding	Benign
12	49030920	G	A	G49030920A	KMT2D	NM_003482.3(KMT2D):c.13644C>T:p.Ser4548=	coding	Benign/Likely_benign
12	49030958	G	A	G49030958A	KMT2D	NM_003482.3(KMT2D):c.13606C>T:p.Arg4536Ter	coding	Pathogenic
12	49030985	T	A	T49030985A	KMT2D	NM_003482.3(KMT2D):c.13579A>T:p.Lys4527Ter	coding	Pathogenic
12	49031255	G	A	G49031255A	KMT2D	NM_003482.3(KMT2D):c.13450C>T:p.Arg4484Ter	coding	Pathogenic
12	49031480	C	A	C49031480A	KMT2D	NM_003482.4(KMT2D):c.13225G>T:p.Glu4409Ter	coding	Pathogenic
12	49031504	G	A	G49031504A	KMT2D	NM_003482.4(KMT2D):c.13201C>T:p.Gln4401Ter	coding	Pathogenic
12	49031603	T	C	T49031603C	KMT2D	NM_003482.3(KMT2D):c.13102A>G:p.Thr4368Ala	coding	Benign
12	49031660	G	C	G49031660C	KMT2D	NM_003482.3(KMT2D):c.13045C>G:p.Pro4349Ala	coding	Benign/Likely_benign
12	49031720	G	A	G49031720A	KMT2D	NM_003482.3(KMT2D):c.12985C>T:p.Gln4329Ter	coding	Pathogenic
12	49031743	G	T	G49031743T	KMT2D	NM_003482.3(KMT2D):c.12962C>A:p.Ser4321Ter	coding	Pathogenic
12	49031750	T	A	T49031750A	KMT2D	NM_003482.4(KMT2D):c.12955A>T:p.Arg4319Ter	coding	Pathogenic
12	49031762	G	A	G49031762A	KMT2D	NM_003482.4(KMT2D):c.12943C>T:p.Gln4315Ter	coding	Pathogenic
12	49031792	C	T	C49031792T	KMT2D	NM_003482.3(KMT2D):c.12913G>A:p.Val4305Ile	coding	Benign/Likely_benign
12	49031838	G	A	G49031838A	KMT2D	NM_003482.3(KMT2D):c.12867C>T:p.Leu4289=	coding	Benign
12	49031861	G	A	G49031861A	KMT2D	NM_003482.3(KMT2D):c.12844C>T:p.Arg4282Ter	coding	Pathogenic
12	49031927	G	A	G49031927A	KMT2D	NM_003482.3(KMT2D):c.12778C>T:p.Gln4260Ter	coding	Pathogenic
12	49031975	G	A	G49031975A	KMT2D	NM_003482.3(KMT2D):c.12730C>T:p.Gln4244Ter	coding	Pathogenic
12	49031990	G	A	G49031990A	KMT2D	NM_003482.3(KMT2D):c.12715C>T:p.Gln4239Ter	coding	Pathogenic
12	49032038	G	A	G49032038A	KMT2D	NM_003482.3(KMT2D):c.12667C>T:p.Gln4223Ter	coding	Pathogenic
12	49032044	G	A	G49032044A	KMT2D	NM_003482.3(KMT2D):c.12661C>T:p.Gln4221Ter	coding	Pathogenic
12	49032107	G	A	G49032107A	KMT2D	NM_003482.4(KMT2D):c.12598C>T:p.Gln4200Ter	coding	Pathogenic
12	49032113	G	A	G49032113A	KMT2D	NM_003482.3(KMT2D):c.12592C>T:p.Arg4198Ter	coding	Pathogenic
12	49032195	T	C	T49032195C	KMT2D	NM_003482.3(KMT2D):c.12510A>G:p.Pro4170=	coding	Benign
12	49032239	G	A	G49032239A	KMT2D	NM_003482.3(KMT2D):c.12466C>T:p.Gln4156Ter	coding	Pathogenic
12	49032275	G	A	G49032275A	KMT2D	NM_003482.3(KMT2D):c.12430C>T:p.Gln4144Ter	coding	Pathogenic
12	49032299	G	A	G49032299A	KMT2D	NM_003482.3(KMT2D):c.12406C>T:p.Gln4136Ter	coding	Pathogenic
12	49032401	G	A	G49032401A	KMT2D	NM_003482.3(KMT2D):c.12304C>T:p.Gln4102Ter	coding	Pathogenic
12	49032404	G	A	G49032404A	KMT2D	NM_003482.4(KMT2D):c.12301C>T:p.Gln4101Ter	coding	Pathogenic
12	49032437	G	A	G49032437A	KMT2D	NM_003482.3(KMT2D):c.12268C>T:p.Gln4090Ter	coding	Pathogenic/Likely_pathogenic
12	49032609	G	A	G49032609A	KMT2D	NM_003482.3(KMT2D):c.12096C>T:p.Ala4032=	coding	Benign
12	49032621	G	A	G49032621A	KMT2D	NM_003482.3(KMT2D):c.12084C>T:p.Thr4028=	coding	Benign
12	49032677	A	G	A49032677G	KMT2D	NM_003482.3(KMT2D):c.12028T>C:p.Ser4010Pro	coding	Benign
12	49032686	G	A	G49032686A	KMT2D	NM_003482.3(KMT2D):c.12019C>T:p.Gln4007Ter	coding	Pathogenic
12	49032728	G	A	G49032728A	KMT2D	NM_003482.4(KMT2D):c.11977C>T:p.Gln3993Ter	coding	Pathogenic
12	49032734	G	A	G49032734A	KMT2D	NM_003482.3(KMT2D):c.11971C>T:p.Gln3991Ter	coding	Pathogenic
12	49032737	G	A	G49032737A	KMT2D	NM_003482.3(KMT2D):c.11968C>T:p.Gln3990Ter	coding	Pathogenic
12	49032761	G	A	G49032761A	KMT2D	NM_003482.3(KMT2D):c.11944C>T:p.Arg3982Ter	coding	Pathogenic
12	49032803	G	A	G49032803A	KMT2D	NM_003482.4(KMT2D):c.11902C>T:p.Gln3968Ter	coding	Pathogenic
12	49032824	G	A	G49032824A	KMT2D	NM_003482.3(KMT2D):c.11881C>T:p.Gln3961Ter	coding	Pathogenic
12	49032854	G	A	G49032854A	KMT2D	NM_003482.4(KMT2D):c.11851C>T:p.Gln3951Ter	coding	Pathogenic
12	49032860	G	A	G49032860A	KMT2D	NM_003482.3(KMT2D):c.11845C>T:p.Gln3949Ter	coding	Pathogenic
12	49032878	G	A	G49032878A	KMT2D	NM_003482.4(KMT2D):c.11827C>T:p.Gln3943Ter	coding	Pathogenic
12	49032893	G	A	G49032893A	KMT2D	NM_003482.3(KMT2D):c.11812C>T:p.Gln3938Ter	coding	Pathogenic
12	49032935	G	A	G49032935A	KMT2D	NM_003482.3(KMT2D):c.11770C>T:p.Gln3924Ter	coding	Pathogenic
12	49032950	G	A	G49032950A	KMT2D	NM_003482.3(KMT2D):c.11755C>T:p.Gln3919Ter	coding	Pathogenic
12	49032956	G	A	G49032956A	KMT2D	NM_003482.3(KMT2D):c.11749C>T:p.Gln3917Ter	coding	Pathogenic
12	49032962	G	A	G49032962A	KMT2D	NM_003482.3(KMT2D):c.11743C>T:p.Gln3915Ter	coding	Pathogenic/Likely_pathogenic
12	49032992	G	A	G49032992A	KMT2D	NM_003482.3(KMT2D):c.11713C>T:p.Gln3905Ter	coding	Pathogenic
12	49033013	G	A	G49033013A	KMT2D	NM_003482.3(KMT2D):c.11692C>T:p.Gln3898Ter	coding	Pathogenic/Likely_pathogenic
12	49033035	G	A	G49033035A	KMT2D	NM_003482.3(KMT2D):c.11670C>T:p.Ser3890=	coding	Benign/Likely_benign
12	49033073	G	A	G49033073A	KMT2D	NM_003482.4(KMT2D):c.11632C>T:p.Gln3878Ter	coding	Pathogenic
12	49033095	C	T	C49033095T	KMT2D	NM_003482.3(KMT2D):c.11610G>A:p.Met3870Ile	coding	Benign
12	49033181	G	A	G49033181A	KMT2D	NM_003482.4(KMT2D):c.11524C>T:p.Gln3842Ter	coding	Pathogenic
12	49033190	G	A	G49033190A	KMT2D	NM_003482.3(KMT2D):c.11515C>T:p.Gln3839Ter	coding	Pathogenic
12	49033325	G	A	G49033325A	KMT2D	NM_003482.3(KMT2D):c.11380C>T:p.Pro3794Ser	coding	Benign/Likely_benign
12	49033415	G	A	G49033415A	KMT2D	NM_003482.3(KMT2D):c.11290C>T:p.Gln3764Ter	coding	Pathogenic/Likely_pathogenic
12	49033430	G	A	G49033430A	KMT2D	NM_003482.3(KMT2D):c.11275C>T:p.Gln3759Ter	coding	Pathogenic
12	49033442	G	A	G49033442A	KMT2D	NM_003482.3(KMT2D):c.11263C>T:p.Gln3755Ter	coding	Pathogenic
12	49033502	G	A	G49033502A	KMT2D	NM_003482.4(KMT2D):c.11203C>T:p.Gln3735Ter	coding	Pathogenic
12	49033556	G	A	G49033556A	KMT2D	NM_003482.3(KMT2D):c.11149C>T:p.Gln3717Ter	coding	Pathogenic
12	49033564	C	T	C49033564T	KMT2D	NM_003482.3(KMT2D):c.11141G>A:p.Arg3714Lys	coding	Benign/Likely_benign
12	49033706	G	A	G49033706A	KMT2D	NM_003482.3(KMT2D):c.10999C>T:p.Gln3667Ter	coding	Pathogenic/Likely_pathogenic
12	49033864	G	C	G49033864C	KMT2D	NM_003482.4(KMT2D):c.10841C>G:p.Ser3614Ter	coding	Pathogenic
12	49033869	C	T	C49033869T	KMT2D	NM_003482.3(KMT2D):c.10836G>A:p.Gln3612=	coding	Benign
12	49033871	G	A	G49033871A	KMT2D	NM_003482.3(KMT2D):c.10834C>T:p.Gln3612Ter	coding	Pathogenic
12	49033886	G	A	G49033886A	KMT2D	NM_003482.3(KMT2D):c.10819C>T:p.Gln3607Ter	coding	Pathogenic
12	49033895	G	A	G49033895A	KMT2D	NM_003482.3(KMT2D):c.10810C>T:p.Gln3604Ter	coding	Pathogenic
12	49034067	C	A	C49034067A	KMT2D	NM_003482.4(KMT2D):c.10740G>T:p.Gln3580His	coding	Pathogenic
12	49034136	T	C	T49034136C	KMT2D	NM_003482.3(KMT2D):c.10671A>G:p.Pro3557=	coding	Benign
12	49034237	G	A	G49034237A	KMT2D	NM_003482.3(KMT2D):c.10570C>T:p.Gln3524Ter	coding	Pathogenic
12	49034485	A	T	A49034485T	KMT2D	NM_003482.3(KMT2D):c.10441-9T>A	noncoding	Benign
12	49034911	T	C	T49034911C	KMT2D	NM_003482.3(KMT2D):c.10256A>G:p.Asp3419Gly	coding	Benign/Likely_benign
12	49034915	C	A	C49034915A	KMT2D	NM_003482.3(KMT2D):c.10252G>T:p.Glu3418Ter	coding	Pathogenic
12	49037164	T	C	T49037164C	KMT2D	NM_003482.3(KMT2D):c.10192A>G:p.Met3398Val	coding	Benign/Likely_benign
12	49037177	C	T	C49037177T	KMT2D	NM_003482.3(KMT2D):c.10179G>A:p.Pro3393=	coding	Benign
12	49037311	T	C	T49037311C	KMT2D	NM_003482.3(KMT2D):c.10045A>G:p.Met3349Val	coding	Benign
12	49037392	G	A	G49037392A	KMT2D	NM_003482.3(KMT2D):c.9964C>T:p.Gln3322Ter	coding	Pathogenic
12	49037395	G	A	G49037395A	KMT2D	NM_003482.3(KMT2D):c.9961C>T:p.Arg3321Ter	coding	Pathogenic/Likely_pathogenic
12	49037527	G	A	G49037527A	KMT2D	NM_003482.4(KMT2D):c.9829C>T:p.Gln3277Ter	coding	Pathogenic
12	49037591	A	G	A49037591G	KMT2D	NM_003482.3(KMT2D):c.9765T>C:p.His3255=	coding	Benign/Likely_benign
12	49037626	C	A	C49037626A	KMT2D	NM_003482.4(KMT2D):c.9730G>T:p.Glu3244Ter	coding	Pathogenic
12	49037630	G	A	G49037630A	KMT2D	NM_003482.3(KMT2D):c.9726C>T:p.Ala3242=	coding	Benign/Likely_benign
12	49037636	C	G	C49037636G	KMT2D	NM_003482.3(KMT2D):c.9720G>C:p.Leu3240=	coding	Benign
12	49038013	G	A	G49038013A	KMT2D	NM_003482.3(KMT2D):c.9343C>T:p.Leu3115Phe	coding	Benign/Likely_benign
12	49038220	C	A	C49038220A	KMT2D	NM_003482.4(KMT2D):c.9136G>T:p.Glu3046Ter	coding	Pathogenic
12	49038334	C	A	C49038334A	KMT2D	NM_003482.4(KMT2D):c.9022G>T:p.Glu3008Ter	coding	Pathogenic
12	49038403	T	A	T49038403A	KMT2D	NM_003482.3(KMT2D):c.8953A>T:p.Lys2985Ter	coding	Pathogenic
12	49038576	G	C	G49038576C	KMT2D	NM_003482.4(KMT2D):c.8780C>G:p.Ser2927Ter	coding	Pathogenic
12	49038613	G	A	G49038613A	KMT2D	NM_003482.3(KMT2D):c.8743C>T:p.Arg2915Ter	coding	Pathogenic/Likely_pathogenic
12	49038868	G	A	G49038868A	KMT2D	NM_003482.3(KMT2D):c.8488C>T:p.Arg2830Ter	coding	Pathogenic
12	49038955	G	A	G49038955A	KMT2D	NM_003482.3(KMT2D):c.8401C>T:p.Arg2801Ter	coding	Pathogenic/Likely_pathogenic
12	49038970	G	A	G49038970A	KMT2D	NM_003482.4(KMT2D):c.8386C>T:p.Gln2796Ter	coding	Pathogenic
12	49039220	A	C	A49039220C	KMT2D	NM_003482.4(KMT2D):c.8366+2T>G	noncoding	Pathogenic
12	49039220	A	G	A49039220G	KMT2D	NM_003482.4(KMT2D):c.8366+2T>C	noncoding	Pathogenic
12	49039221	C	A	C49039221A	KMT2D	NM_003482.3(KMT2D):c.8366+1G>T	noncoding	Pathogenic
12	49039221	C	T	C49039221T	KMT2D	NM_003482.3(KMT2D):c.8366+1G>A	noncoding	Pathogenic
12	49039277	G	A	G49039277A	KMT2D	NM_003482.3(KMT2D):c.8311C>T:p.Arg2771Ter	coding	Pathogenic
12	49039325	T	A	T49039325A	KMT2D	NM_003482.4(KMT2D):c.8263A>T:p.Lys2755Ter	coding	Pathogenic
12	49039359	C	T	C49039359T	KMT2D	NM_003482.4(KMT2D):c.8230-1G>A	coding	Pathogenic
12	49039434	C	T	C49039434T	KMT2D	NM_003482.3(KMT2D):c.8229+1G>A	noncoding	Pathogenic
12	49039464	G	A	G49039464A	KMT2D	NM_003482.3(KMT2D):c.8200C>T:p.Arg2734Ter	coding	Pathogenic
12	49039515	G	A	G49039515A	KMT2D	NM_003482.3(KMT2D):c.8149C>T:p.Pro2717Ser	coding	Benign
12	49039516	A	G	A49039516G	KMT2D	NM_003482.3(KMT2D):c.8148T>C:p.Pro2716=	coding	Benign
12	49039573	G	A	G49039573A	KMT2D	NM_003482.3(KMT2D):c.8091C>T:p.Arg2697=	coding	Benign
12	49039600	C	T	C49039600T	KMT2D	NM_003482.3(KMT2D):c.8064G>A:p.Glu2688=	coding	Benign
12	49039605	G	A	G49039605A	KMT2D	NM_003482.3(KMT2D):c.8059C>T:p.Arg2687Ter	coding	Pathogenic
12	49039611	G	A	G49039611A	KMT2D	NM_003482.3(KMT2D):c.8053C>T:p.Arg2685Ter	coding	Pathogenic/Likely_pathogenic
12	49039632	G	A	G49039632A	KMT2D	NM_003482.3(KMT2D):c.8047-15C>T	noncoding	Benign/Likely_benign
12	49039713	T	C	T49039713C	KMT2D	NM_003482.3(KMT2D):c.8046+11A>G	noncoding	Benign
12	49039726	G	A	G49039726A	KMT2D	NM_003482.3(KMT2D):c.8044C>T:p.Gln2682Ter	coding	Pathogenic
12	49039759	C	T	C49039759T	KMT2D	NM_003482.4(KMT2D):c.8011G>A:p.Gly2671Ser	coding	Benign
12	49039837	G	A	G49039837A	KMT2D	NM_003482.3(KMT2D):c.7933C>T:p.Arg2645Ter	coding	Pathogenic
12	49039867	G	A	G49039867A	KMT2D	NM_003482.3(KMT2D):c.7903C>T:p.Arg2635Ter	coding	Pathogenic
12	49040001	G	T	G49040001T	KMT2D	NM_003482.4(KMT2D):c.7769C>A:p.Ser2590Ter	coding	Pathogenic
12	49040100	G	A	G49040100A	KMT2D	NM_003482.3(KMT2D):c.7670C>T:p.Pro2557Leu	coding	Benign
12	49040198	C	T	C49040198T	KMT2D	NM_003482.3(KMT2D):c.7572G>A:p.Thr2524=	coding	Benign
12	49040271	G	A	G49040271A	KMT2D	NM_003482.4(KMT2D):c.7499C>T:p.Ala2500Val	coding	Benign
12	49040291	C	A	C49040291A	KMT2D	NM_003482.3(KMT2D):c.7479G>T:p.Gly2493=	coding	Benign
12	49040359	G	A	G49040359A	KMT2D	NM_003482.3(KMT2D):c.7411C>T:p.Arg2471Ter	coding	Pathogenic
12	49040542	G	A	G49040542A	KMT2D	NM_003482.4(KMT2D):c.7228C>T:p.Arg2410Ter	coding	Pathogenic
12	49040582	A	G	A49040582G	KMT2D	NM_003482.3(KMT2D):c.7188T>C:p.Cys2396=	coding	Benign/Likely_benign
12	49040626	G	A	G49040626A	KMT2D	NM_003482.3(KMT2D):c.7144C>T:p.Pro2382Ser	coding	Benign
12	49040704	G	A	G49040704A	KMT2D	NM_003482.3(KMT2D):c.7066C>T:p.Gln2356Ter	coding	Pathogenic
12	49040749	G	A	G49040749A	KMT2D	NM_003482.4(KMT2D):c.7021C>T:p.Gln2341Ter	coding	Pathogenic
12	49040808	A	C	A49040808C	KMT2D	NM_003482.4(KMT2D):c.6962T>G:p.Leu2321Ter	coding	Pathogenic
12	49040934	C	T	C49040934T	KMT2D	NM_003482.3(KMT2D):c.6836G>A:p.Gly2279Glu	coding	Benign/Likely_benign
12	49041066	C	T	C49041066T	KMT2D	NM_003482.3(KMT2D):c.6704G>A:p.Arg2235Lys	coding	Benign
12	49041106	G	A	G49041106A	KMT2D	NM_003482.3(KMT2D):c.6664C>T:p.Gln2222Ter	coding	Pathogenic
12	49041141	G	A	G49041141A	KMT2D	NM_003482.3(KMT2D):c.6629C>T:p.Pro2210Leu	coding	Benign/Likely_benign
12	49041148	G	A	G49041148A	KMT2D	NM_003482.4(KMT2D):c.6622C>T:p.Gln2208Ter	coding	Pathogenic
12	49041149	C	T	C49041149T	KMT2D	NM_003482.3(KMT2D):c.6621G>A:p.Ala2207=	coding	Benign
12	49041274	G	A	G49041274A	KMT2D	NM_003482.3(KMT2D):c.6496C>T:p.Gln2166Ter	coding	Pathogenic
12	49041293	G	A	G49041293A	KMT2D	NM_003482.3(KMT2D):c.6477C>T:p.Leu2159=	coding	Benign/Likely_benign
12	49041366	A	T	A49041366T	KMT2D	NM_003482.4(KMT2D):c.6404T>A:p.Leu2135Ter	coding	Pathogenic
12	49041374	G	A	G49041374A	KMT2D	NM_003482.3(KMT2D):c.6396C>T:p.Pro2132=	coding	Benign
12	49041475	G	A	G49041475A	KMT2D	NM_003482.3(KMT2D):c.6295C>T:p.Arg2099Ter	coding	Pathogenic
12	49041567	G	T	G49041567T	KMT2D	NM_003482.4(KMT2D):c.6235-32C>A	noncoding	Benign
12	49041917	C	T	C49041917T	KMT2D	NM_003482.4(KMT2D):c.6183G>A:p.Leu2061=	coding	Pathogenic
12	49041920	G	A	G49041920A	KMT2D	NM_003482.3(KMT2D):c.6180C>T:p.Tyr2060=	coding	Benign
12	49041974	G	T	G49041974T	KMT2D	NM_003482.3(KMT2D):c.6126C>A:p.Cys2042Ter	coding	Pathogenic
12	49041986	C	T	C49041986T	KMT2D	NM_003482.3(KMT2D):c.6114G>A:p.Trp2038Ter	coding	Pathogenic
12	49042122	T	C	T49042122C	KMT2D	NM_003482.3(KMT2D):c.6076A>G:p.Ile2026Val	coding	Benign
12	49042188	G	A	G49042188A	KMT2D	NM_003482.3(KMT2D):c.6010C>T:p.Gln2004Ter	coding	Pathogenic
12	49042200	G	A	G49042200A	KMT2D	NM_003482.3(KMT2D):c.5998C>T:p.Gln2000Ter	coding	Pathogenic
12	49042215	C	A	C49042215A	KMT2D	NM_003482.4(KMT2D):c.5983G>T:p.Gly1995Ter	coding	Pathogenic
12	49042216	G	A	G49042216A	KMT2D	NM_003482.3(KMT2D):c.5982C>T:p.Asp1994=	coding	Benign
12	49042222	C	T	C49042222T	KMT2D	NM_003482.3(KMT2D):c.5976G>A:p.Glu1992=	coding	Benign
12	49042246	G	T	G49042246T	KMT2D	NM_003482.3(KMT2D):c.5952C>A:p.Pro1984=	coding	Benign/Likely_benign
12	49042324	G	A	G49042324A	KMT2D	NM_003482.3(KMT2D):c.5874C>T:p.Arg1958=	coding	Benign
12	49042329	C	A	C49042329A	KMT2D	NM_003482.3(KMT2D):c.5869G>T:p.Glu1957Ter	coding	Pathogenic
12	49042338	G	A	G49042338A	KMT2D	NM_003482.3(KMT2D):c.5868-8C>T	noncoding	Benign
12	49042556	C	T	C49042556T	KMT2D	NM_003482.4(KMT2D):c.5867+5G>A	noncoding	Pathogenic
12	49042759	G	A	G49042759A	KMT2D	NM_003482.4(KMT2D):c.5764C>T:p.Gln1922Ter	coding	Pathogenic
12	49042816	G	A	G49042816A	KMT2D	NM_003482.3(KMT2D):c.5707C>T:p.Arg1903Ter	coding	Pathogenic
12	49042846	G	A	G49042846A	KMT2D	NM_003482.3(KMT2D):c.5677C>T:p.Gln1893Ter	coding	Pathogenic
12	49042880	T	C	T49042880C	KMT2D	NM_003482.3(KMT2D):c.5645-2A>G	noncoding	Pathogenic
12	49043128	G	T	G49043128T	KMT2D	NM_003482.3(KMT2D):c.5592C>A:p.Gly1864=	coding	Benign
12	49043171	C	T	C49043171T	KMT2D	NM_003482.4(KMT2D):c.5549G>A:p.Gly1850Asp	coding	Benign
12	49043419	C	A	C49043419A	KMT2D	NM_003482.3(KMT2D):c.5477G>T:p.Gly1826Val	coding	Benign
12	49043616	T	G	T49043616G	KMT2D	NM_003482.3(KMT2D):c.5467+19A>C	noncoding	Benign
12	49043867	C	A	C49043867A	KMT2D	NM_003482.3(KMT2D):c.5319+1G>T	noncoding	Pathogenic
12	49043909	T	A	T49043909A	KMT2D	NM_003482.3(KMT2D):c.5278A>T:p.Lys1760Ter	coding	Pathogenic
12	49043918	G	A	G49043918A	KMT2D	NM_003482.3(KMT2D):c.5269C>T:p.Arg1757Ter	coding	Pathogenic
12	49043924	G	A	G49043924A	KMT2D	NM_003482.3(KMT2D):c.5263C>T:p.Gln1755Ter	coding	Pathogenic
12	49043967	G	A	G49043967A	KMT2D	NM_003482.3(KMT2D):c.5220C>T:p.Ala1740=	coding	Benign/Likely_benign
12	49043970	G	A	G49043970A	KMT2D	NM_003482.3(KMT2D):c.5217C>T:p.Gly1739=	coding	Benign
12	49044239	G	A	G49044239A	KMT2D	NM_003482.4(KMT2D):c.5149C>T:p.Gln1717Ter	coding	Pathogenic
12	49044257	T	A	T49044257A	KMT2D	NM_003482.3(KMT2D):c.5131A>T:p.Lys1711Ter	coding	Pathogenic
12	49044284	G	A	G49044284A	KMT2D	NM_003482.3(KMT2D):c.5104C>T:p.Arg1702Ter	coding	Pathogenic
12	49044470	A	G	A49044470G	KMT2D	NM_003482.3(KMT2D):c.5016T>C:p.Pro1672=	coding	Benign
12	49045937	A	G	A49045937G	KMT2D	NM_003482.3(KMT2D):c.4724T>C:p.Met1575Thr	coding	Benign
12	49046064	C	A	C49046064A	KMT2D	NM_003482.3(KMT2D):c.4693+1G>T	noncoding	Pathogenic
12	49046250	A	G	A49046250G	KMT2D	NM_003482.3(KMT2D):c.4583+10T>C	noncoding	Benign
12	49046358	G	C	G49046358C	KMT2D	NM_003482.3(KMT2D):c.4485C>G:p.Tyr1495Ter	coding	Pathogenic
12	49046358	G	T	G49046358T	KMT2D	NM_003482.3(KMT2D):c.4485C>A:p.Tyr1495Ter	coding	Pathogenic
12	49046621	C	T	C49046621T	KMT2D	NM_003482.4(KMT2D):c.4406G>A:p.Trp1469Ter	coding	Pathogenic
12	49046626	G	A	G49046626A	KMT2D	NM_003482.3(KMT2D):c.4401C>T:p.Gly1467=	coding	Benign/Likely_benign
12	49046632	G	A	G49046632A	KMT2D	NM_003482.3(KMT2D):c.4395C>T:p.Pro1465=	coding	Benign
12	49046668	G	T	G49046668T	KMT2D	NM_003482.4(KMT2D):c.4359C>A:p.His1453Gln	coding	Pathogenic
12	49046756	C	G	C49046756G	KMT2D	NM_003482.3(KMT2D):c.4271G>C:p.Cys1424Ser	coding	Pathogenic
12	49046762	C	T	C49046762T	KMT2D	NM_003482.3(KMT2D):c.4265G>A:p.Trp1422Ter	coding	Pathogenic
12	49046792	T	G	T49046792G	KMT2D	NM_003482.3(KMT2D):c.4237-2A>C	noncoding	Pathogenic
12	49047992	G	T	G49047992T	KMT2D	NM_003482.3(KMT2D):c.4209C>A:p.Cys1403Ter	coding	Pathogenic
12	49047997	G	A	G49047997A	KMT2D	NM_003482.3(KMT2D):c.4204C>T:p.Gln1402Ter	coding	Pathogenic
12	49048053	C	T	C49048053T	KMT2D	NM_003482.3(KMT2D):c.4148G>A:p.Cys1383Tyr	coding	Pathogenic
12	49048058	C	T	C49048058T	KMT2D	NM_003482.3(KMT2D):c.4143G>A:p.Val1381=	coding	Benign
12	49048697	C	A	C49048697A	KMT2D	NM_003482.4(KMT2D):c.4093G>T:p.Val1365Phe	coding	Pathogenic
12	49048701	G	A	G49048701A	KMT2D	NM_003482.3(KMT2D):c.4089C>T:p.Thr1363=	coding	Benign/Likely_benign
12	49049078	T	C	T49049078C	KMT2D	NM_003482.4(KMT2D):c.4020+27A>G	noncoding	Benign
12	49049092	G	C	G49049092C	KMT2D	NM_003482.3(KMT2D):c.4020+13C>G	noncoding	Benign/Likely_benign
12	49049116	C	A	C49049116A	KMT2D	NM_003482.3(KMT2D):c.4009G>T:p.Glu1337Ter	coding	Pathogenic
12	49049680	A	G	A49049680G	KMT2D	NM_003482.4(KMT2D):c.3906+2T>C	noncoding	Pathogenic
12	49049769	G	A	G49049769A	KMT2D	NM_003482.3(KMT2D):c.3819C>T:p.Cys1273=	coding	Benign/Likely_benign
12	49049800	G	C	G49049800C	KMT2D	NM_003482.3(KMT2D):c.3788C>G:p.Ser1263Ter	coding	Pathogenic
12	49049834	G	A	G49049834A	KMT2D	NM_003482.3(KMT2D):c.3754C>T:p.Arg1252Ter	coding	Pathogenic
12	49049851	G	A	G49049851A	KMT2D	NM_003482.3(KMT2D):c.3737C>T:p.Thr1246Met	coding	Benign/Likely_benign
12	49049922	G	A	G49049922A	KMT2D	NM_003482.3(KMT2D):c.3666C>T:p.Gly1222=	coding	Benign
12	49049970	G	A	G49049970A	KMT2D	NM_003482.3(KMT2D):c.3618C>T:p.Asn1206=	coding	Benign
12	49049982	G	A	G49049982A	KMT2D	NM_003482.3(KMT2D):c.3606C>T:p.Ser1202=	coding	Benign
12	49050016	G	A	G49050016A	KMT2D	NM_003482.3(KMT2D):c.3572C>T:p.Pro1191Leu	coding	Benign/Likely_benign
12	49050035	G	A	G49050035A	KMT2D	NM_003482.3(KMT2D):c.3553C>T:p.Gln1185Ter	coding	Pathogenic
12	49050049	G	T	G49050049T	KMT2D	NM_003482.4(KMT2D):c.3539C>A:p.Ser1180Ter	coding	Pathogenic
12	49050056	G	A	G49050056A	KMT2D	NM_003482.3(KMT2D):c.3532C>T:p.Gln1178Ter	coding	Pathogenic
12	49050180	C	T	C49050180T	KMT2D	NM_003482.3(KMT2D):c.3408G>A:p.Glu1136=	coding	Benign
12	49050215	G	A	G49050215A	KMT2D	NM_003482.3(KMT2D):c.3373C>T:p.Leu1125=	coding	Benign
12	49050467	G	A	G49050467A	KMT2D	NM_003482.3(KMT2D):c.3121C>T:p.Gln1041Ter	coding	Pathogenic
12	49050561	C	T	C49050561T	KMT2D	NM_003482.3(KMT2D):c.3027G>A:p.Val1009=	coding	Benign/Likely_benign
12	49050711	G	C	G49050711C	KMT2D	NM_003482.4(KMT2D):c.2877C>G:p.Tyr959Ter	coding	Pathogenic
12	49050750	C	T	C49050750T	KMT2D	NM_003482.3(KMT2D):c.2838G>A:p.Ala946=	coding	Benign/Likely_benign
12	49050762	G	A	G49050762A	KMT2D	NM_003482.3(KMT2D):c.2826C>T:p.Ile942=	coding	Benign
12	49050885	C	T	C49050885T	KMT2D	NM_003482.3(KMT2D):c.2797+1G>A	noncoding	Pathogenic
12	49050927	G	A	G49050927A	KMT2D	NM_003482.4(KMT2D):c.2756C>T:p.Pro919Leu	coding	Benign
12	49051245	G	A	G49051245A	KMT2D	NM_003482.3(KMT2D):c.2438C>T:p.Pro813Leu	coding	Benign
12	49051366	G	A	G49051366A	KMT2D	NM_003482.3(KMT2D):c.2317C>T:p.Gln773Ter	coding	Pathogenic
12	49051542	G	T	G49051542T	KMT2D	NM_003482.3(KMT2D):c.2141C>A:p.Ser714Ter	coding	Pathogenic
12	49051609	G	T	G49051609T	KMT2D	NM_003482.3(KMT2D):c.2074C>A:p.Pro692Thr	coding	Benign/Likely_benign
12	49051631	A	T	A49051631T	KMT2D	NM_003482.3(KMT2D):c.2052T>A:p.Pro684=	coding	Benign
12	49051718	G	T	G49051718T	KMT2D	NM_003482.3(KMT2D):c.1965C>A:p.Pro655=	coding	Benign/Likely_benign
12	49051745	G	C	G49051745C	KMT2D	NM_003482.3(KMT2D):c.1938C>G:p.Pro646=	coding	Benign/Likely_benign
12	49051870	C	A	C49051870A	KMT2D	NM_003482.3(KMT2D):c.1813G>T:p.Glu605Ter	coding	Pathogenic
12	49052154	G	C	G49052154C	KMT2D	NM_003482.3(KMT2D):c.1529C>G:p.Ser510Ter	coding	Pathogenic
12	49052257	C	T	C49052257T	KMT2D	NM_003482.3(KMT2D):c.1426G>A:p.Ala476Thr	coding	Benign
12	49052318	T	C	T49052318C	KMT2D	NM_003482.3(KMT2D):c.1365A>G:p.Glu455=	coding	Benign
12	49052426	T	C	T49052426C	KMT2D	NM_003482.3(KMT2D):c.1259-2A>G	noncoding	Pathogenic
12	49052667	G	A	G49052667A	KMT2D	NM_003482.3(KMT2D):c.1155C>T:p.Pro385=	coding	Benign
12	49052702	G	T	G49052702T	KMT2D	NM_003482.3(KMT2D):c.1120C>A:p.Pro374Thr	coding	Benign/Likely_benign
12	49052707	A	T	A49052707T	KMT2D	NM_003482.3(KMT2D):c.1115T>A:p.Phe372Tyr	coding	Benign
12	49054262	A	C	A49054262C	KMT2D	NM_003482.3(KMT2D):c.510+45T>G	noncoding	Benign
12	49054351	C	A	C49054351A	KMT2D	NM_003482.3(KMT2D):c.466G>T:p.Glu156Ter	coding	Pathogenic
12	49054418	T	A	T49054418A	KMT2D	NM_003482.3(KMT2D):c.401-2A>T	noncoding	Pathogenic
12	49054419	T	C	T49054419C	KMT2D	NM_003482.3(KMT2D):c.401-3A>G	noncoding	Pathogenic
12	49054526	A	G	A49054526G	KMT2D	NM_003482.4(KMT2D):c.400+2T>C	noncoding	Pathogenic
12	49054527	C	G	C49054527G	KMT2D	NM_003482.3(KMT2D):c.400+1G>C	noncoding	Pathogenic
12	49054672	C	A	C49054672A	KMT2D	NM_003482.3(KMT2D):c.256G>T:p.Glu86Ter	coding	Pathogenic
12	49054678	G	A	G49054678A	KMT2D	NM_003482.4(KMT2D):c.250C>T:p.Arg84Cys	coding	Benign
12	49054680	C	T	C49054680T	KMT2D	NM_003482.3(KMT2D):c.248G>A:p.Arg83Gln	coding	Benign
12	49054899	C	T	C49054899T	KMT2D	NM_003482.4(KMT2D):c.176+1G>A	noncoding	Pathogenic
12	49054910	G	A	G49054910A	KMT2D	NM_003482.4(KMT2D):c.166C>T:p.Gln56Ter	coding	Pathogenic
12	49054997	T	C	T49054997C	KMT2D	NM_003482.4(KMT2D):c.79A>G:p.Ser27Gly	coding	Benign
12	49089772	C	A	C49089772A	DHH	NM_021044.4(DHH):c.*87G>T	noncoding	Benign
12	49091139	G	T	G49091139T	DHH	NM_021044.4(DHH):c.554C>A:p.Ser185Ter	coding	Pathogenic
12	49091150	G	A	G49091150A	DHH	NM_021044.4(DHH):c.543C>T:p.His181=	coding	Benign
12	49091165	G	C	G49091165C	DHH	NM_021044.4(DHH):c.528C>G:p.Tyr176Ter	coding	Pathogenic
12	49091165	G	T	G49091165T	DHH	NM_021044.4(DHH):c.528C>A:p.Tyr176Ter	coding	Pathogenic
12	49091174	C	A	C49091174A	DHH	NM_021044.4(DHH):c.519G>T:p.Trp173Cys	coding	Pathogenic
12	49091208	A	G	A49091208G	DHH	NM_021044.4(DHH):c.485T>C:p.Leu162Pro	coding	Pathogenic
12	49091322	C	T	C49091322T	DHH	NM_021044.4(DHH):c.371G>A:p.Arg124Gln	coding	Pathogenic
12	49094321	C	T	C49094321T	DHH	NM_021044.4(DHH):c.192G>A:p.Glu64=	coding	Benign
12	49094325	G	C	G49094325C	DHH	NM_021044.4(DHH):c.188C>G:p.Ala63Gly	coding	Benign
12	49094511	A	G	A49094511G	DHH	NM_021044.4(DHH):c.2T>C:p.Met1Thr	coding	Pathogenic
12	49094530	G	A	G49094530A	DHH	NM_021044.4(DHH):c.-18C>T	noncoding	Benign
12	49094767	A	G	A49094767G	DHH	NM_021044.4(DHH):c.-255T>C	noncoding	Benign
12	49128795	T	C	T49128795C	TUBA1B	NM_006082.3(TUBA1B):c.519A>G:p.Pro173=	coding	Benign
12	49129702	G	A	G49129702A	TUBA1B	NM_006082.3(TUBA1B):c.24C>T:p.His8=	coding	Benign
12	49185037	C	T	C49185037T	TUBA1A	NM_006009.4(TUBA1A):c.1329G>A:p.Glu443=	coding	Benign
12	49185059	C	T	C49185059T	TUBA1A	NM_006009.4(TUBA1A):c.1307G>A:p.Gly436Asp	coding	Pathogenic
12	49185060	C	G	C49185060G	TUBA1A	NM_006009.4(TUBA1A):c.1306G>C:p.Gly436Arg	coding	Pathogenic
12	49185081	C	G	C49185081G	TUBA1A	NM_006009.4(TUBA1A):c.1285G>C:p.Glu429Gln	coding	Pathogenic
12	49185092	A	T	A49185092T	TUBA1A	NM_006009.4(TUBA1A):c.1274T>A:p.Met425Lys	coding	Pathogenic/Likely_pathogenic
12	49185101	C	T	C49185101T	TUBA1A	NM_006009.4(TUBA1A):c.1265G>A:p.Arg422His	coding	Pathogenic
12	49185102	G	A	G49185102A	TUBA1A	NM_006009.4(TUBA1A):c.1264C>T:p.Arg422Cys	coding	Pathogenic
12	49185110	G	A	G49185110A	TUBA1A	NM_006009.4(TUBA1A):c.1256C>T:p.Ser419Leu	coding	Pathogenic
12	49185140	A	G	A49185140G	TUBA1A	NM_006009.4(TUBA1A):c.1226T>C:p.Val409Ala	coding	Pathogenic/Likely_pathogenic
12	49185141	C	T	C49185141T	TUBA1A	NM_006009.4(TUBA1A):c.1225G>A:p.Val409Ile	coding	Pathogenic
12	49185161	C	A	C49185161A	TUBA1A	NM_006009.4(TUBA1A):c.1205G>T:p.Arg402Leu	coding	Pathogenic
12	49185161	C	T	C49185161T	TUBA1A	NM_006009.4(TUBA1A):c.1205G>A:p.Arg402His	coding	Pathogenic
12	49185162	G	A	G49185162A	TUBA1A	NM_006009.4(TUBA1A):c.1204C>T:p.Arg402Cys	coding	Pathogenic
12	49185163	T	C	T49185163C	TUBA1A	NM_006009.4(TUBA1A):c.1203A>G:p.Lys401=	coding	Benign
12	49185176	A	G	A49185176G	TUBA1A	NM_006009.4(TUBA1A):c.1190T>C:p.Leu397Pro	coding	Pathogenic
12	49185180	C	A	C49185180A	TUBA1A	NM_006009.4(TUBA1A):c.1186G>T:p.Asp396Tyr	coding	Pathogenic
12	49185189	G	A	G49185189A	TUBA1A	NM_006009.4(TUBA1A):c.1177C>T:p.His393Tyr	coding	Pathogenic
12	49185197	C	G	C49185197G	TUBA1A	NM_006009.4(TUBA1A):c.1169G>C:p.Arg390Pro	coding	Pathogenic/Likely_pathogenic
12	49185197	C	T	C49185197T	TUBA1A	NM_006009.4(TUBA1A):c.1169G>A:p.Arg390His	coding	Pathogenic
12	49185198	G	A	G49185198A	TUBA1A	NM_006009.4(TUBA1A):c.1168C>T:p.Arg390Cys	coding	Pathogenic
12	49185198	G	C	G49185198C	TUBA1A	NM_006009.4(TUBA1A):c.1168C>G:p.Arg390Gly	coding	Pathogenic/Likely_pathogenic
12	49185206	G	A	G49185206A	TUBA1A	NM_006009.4(TUBA1A):c.1160C>T:p.Ala387Val	coding	Pathogenic
12	49185218	G	A	G49185218A	TUBA1A	NM_006009.4(TUBA1A):c.1148C>T:p.Ala383Val	coding	Pathogenic/Likely_pathogenic
12	49185218	G	T	G49185218T	TUBA1A	NM_006009.4(TUBA1A):c.1148C>A:p.Ala383Asp	coding	Pathogenic/Likely_pathogenic
12	49185254	A	T	A49185254T	TUBA1A	NM_006009.4(TUBA1A):c.1112T>A:p.Val371Glu	coding	Pathogenic
12	49185261	C	T	C49185261T	TUBA1A	NM_006009.4(TUBA1A):c.1105G>A:p.Ala369Thr	coding	Pathogenic/Likely_pathogenic
12	49185270	C	T	C49185270T	TUBA1A	NM_006009.4(TUBA1A):c.1096G>A:p.Gly366Arg	coding	Pathogenic/Likely_pathogenic
12	49185322	G	A	G49185322A	TUBA1A	NM_006009.4(TUBA1A):c.1044C>T:p.Pro348=	coding	Benign/Likely_benign
12	49185358	C	T	C49185358T	TUBA1A	NM_006009.4(TUBA1A):c.1008G>A:p.Lys336=	coding	Benign/Likely_benign
12	49185368	G	A	G49185368A	TUBA1A	NM_006009.4(TUBA1A):c.998C>T:p.Ala333Val	coding	Pathogenic
12	49185380	T	C	T49185380C	TUBA1A	NM_006009.4(TUBA1A):c.986A>G:p.Asn329Ser	coding	Pathogenic
12	49185388	T	G	T49185388G	TUBA1A	NM_006009.4(TUBA1A):c.978A>C:p.Lys326Asn	coding	Pathogenic
12	49185400	G	A	G49185400A	TUBA1A	NM_006009.4(TUBA1A):c.966C>T:p.Asp322=	coding	Benign/Likely_benign
12	49185407	C	T	C49185407T	TUBA1A	NM_006009.4(TUBA1A):c.959G>A:p.Arg320His	coding	Pathogenic/Likely_pathogenic
12	49185408	G	A	G49185408A	TUBA1A	NM_006009.4(TUBA1A):c.958C>T:p.Arg320Cys	coding	Pathogenic
12	49185446	G	A	G49185446A	TUBA1A	NM_006009.4(TUBA1A):c.920C>T:p.Pro307Leu	coding	Pathogenic/Likely_pathogenic
12	49185458	A	C	A49185458C	TUBA1A	NM_006009.4(TUBA1A):c.908T>G:p.Val303Gly	coding	Pathogenic
12	49185558	C	A	C49185558A	TUBA1A	NM_006009.4(TUBA1A):c.808G>T:p.Ala270Ser	coding	Pathogenic/Likely_pathogenic
12	49185576	G	A	G49185576A	TUBA1A	NM_006009.4(TUBA1A):c.790C>T:p.Arg264Cys	coding	Pathogenic
12	49185576	G	C	G49185576C	TUBA1A	NM_006009.4(TUBA1A):c.790C>G:p.Arg264Gly	coding	Pathogenic/Likely_pathogenic
12	49185579	G	T	G49185579T	TUBA1A	NM_006009.4(TUBA1A):c.787C>A:p.Pro263Thr	coding	Pathogenic
12	49185663	C	A	C49185663A	TUBA1A	NM_006009.4(TUBA1A):c.703G>T:p.Val235Leu	coding	Pathogenic
12	49185665	A	C	A49185665C	TUBA1A	NM_006009.4(TUBA1A):c.701T>G:p.Ile234Ser	coding	Pathogenic
12	49185714	C	A	C49185714A	TUBA1A	NM_006009.4(TUBA1A):c.652G>T:p.Asp218Tyr	coding	Pathogenic
12	49185714	C	T	C49185714T	TUBA1A	NM_006009.4(TUBA1A):c.652G>A:p.Asp218Asn	coding	Pathogenic/Likely_pathogenic
12	49185725	C	A	C49185725A	TUBA1A	NM_006009.4(TUBA1A):c.641G>T:p.Arg214Leu	coding	Pathogenic/Likely_pathogenic
12	49185725	C	T	C49185725T	TUBA1A	NM_006009.4(TUBA1A):c.641G>A:p.Arg214His	coding	Pathogenic/Likely_pathogenic
12	49185737	T	C	T49185737C	TUBA1A	NM_006009.4(TUBA1A):c.629A>G:p.Tyr210Cys	coding	Pathogenic
12	49185767	C	T	C49185767T	TUBA1A	NM_006009.4(TUBA1A):c.599G>A:p.Cys200Tyr	coding	Pathogenic
12	49185804	T	G	T49185804G	TUBA1A	NM_006009.4(TUBA1A):c.562A>C:p.Ile188Leu	coding	Pathogenic
12	49185821	A	G	A49185821G	TUBA1A	NM_006009.4(TUBA1A):c.545T>C:p.Val182Ala	coding	Pathogenic
12	49185844	C	T	C49185844T	TUBA1A	NM_006009.4(TUBA1A):c.522G>A:p.Ala174=	coding	Benign
12	49185848	G	A	G49185848A	TUBA1A	NM_006009.4(TUBA1A):c.518C>T:p.Pro173Leu	coding	Pathogenic
12	49185856	A	G	A49185856G	TUBA1A	NM_006009.4(TUBA1A):c.510T>C:p.Ser170=	coding	Benign
12	49185885	A	C	A49185885C	TUBA1A	NM_006009.4(TUBA1A):c.481T>G:p.Tyr161Asp	coding	Pathogenic/Likely_pathogenic
12	49185885	A	G	A49185885G	TUBA1A	NM_006009.4(TUBA1A):c.481T>C:p.Tyr161His	coding	Pathogenic
12	49185893	G	A	G49185893A	TUBA1A	NM_006009.4(TUBA1A):c.473C>T:p.Ser158Leu	coding	Pathogenic
12	49185913	C	G	C49185913G	TUBA1A	NM_006009.4(TUBA1A):c.453G>C:p.Ser151=	coding	Benign
12	49185917	G	A	G49185917A	TUBA1A	NM_006009.4(TUBA1A):c.449C>T:p.Thr150Ile	coding	Pathogenic
12	49185942	C	T	C49185942T	TUBA1A	NM_006009.4(TUBA1A):c.424G>A:p.Gly142Ser	coding	Pathogenic/Likely_pathogenic
12	49185970	G	A	G49185970A	TUBA1A	NM_006009.4(TUBA1A):c.396C>T:p.Leu132=	coding	Benign/Likely_benign
12	49185976	C	G	C49185976G	TUBA1A	NM_006009.4(TUBA1A):c.390G>C:p.Thr130=	coding	Benign
12	49185985	G	T	G49185985T	TUBA1A	NM_006009.4(TUBA1A):c.381C>A:p.Asp127Glu	coding	Pathogenic
12	49185987	C	T	C49185987T	TUBA1A	NM_006009.4(TUBA1A):c.379G>A:p.Asp127Asn	coding	Pathogenic/Likely_pathogenic
12	49186317	C	T	C49186317T	TUBA1A	NM_006009.4(TUBA1A):c.368G>A:p.Arg123His	coding	Pathogenic/Likely_pathogenic
12	49186318	G	A	G49186318A	TUBA1A	NM_006009.4(TUBA1A):c.367C>T:p.Arg123Cys	coding	Pathogenic
12	49186333	C	G	C49186333G	TUBA1A	NM_006009.4(TUBA1A):c.352G>C:p.Val118Leu	coding	Pathogenic
12	49186333	C	T	C49186333T	TUBA1A	NM_006009.4(TUBA1A):c.352G>A:p.Val118Met	coding	Pathogenic/Likely_pathogenic
12	49186348	C	T	C49186348T	TUBA1A	NM_006009.4(TUBA1A):c.337G>A:p.Glu113Lys	coding	Pathogenic
12	49186365	T	C	T49186365C	TUBA1A	NM_006009.4(TUBA1A):c.320A>G:p.His107Arg	coding	Pathogenic
12	49186383	T	C	T49186383C	TUBA1A	NM_006009.4(TUBA1A):c.302A>G:p.Asn101Ser	coding	Pathogenic
12	49186397	T	C	T49186397C	TUBA1A	NM_006009.4(TUBA1A):c.288A>G:p.Lys96=	coding	Benign/Likely_benign
12	49186402	C	A	C49186402A	TUBA1A	NM_006009.4(TUBA1A):c.283G>T:p.Gly95Cys	coding	Pathogenic
12	49186411	G	C	G49186411C	TUBA1A	NM_006009.4(TUBA1A):c.274C>G:p.Leu92Val	coding	Pathogenic
12	49186439	G	A	G49186439A	TUBA1A	NM_006009.4(TUBA1A):c.246C>T:p.Thr82=	coding	Benign
12	49186496	G	C	G49186496C	TUBA1A	NM_006009.4(TUBA1A):c.227-38C>G	noncoding	Benign
12	49186500	A	G	A49186500G	TUBA1A	NM_006009.4(TUBA1A):c.227-42T>C	noncoding	Benign
12	49186601	G	A	G49186601A	TUBA1A	NM_006009.4(TUBA1A):c.226+10C>T	noncoding	Benign/Likely_benign
12	49186622	G	C	G49186622C	TUBA1A	NM_006009.4(TUBA1A):c.215C>G:p.Pro72Arg	coding	Pathogenic
12	49186623	G	A	G49186623A	TUBA1A	NM_006009.4(TUBA1A):c.214C>T:p.Pro72Ser	coding	Pathogenic
12	49186628	A	G	A49186628G	TUBA1A	NM_006009.4(TUBA1A):c.209T>C:p.Leu70Ser	coding	Pathogenic
12	49186647	G	A	G49186647A	TUBA1A	NM_006009.4(TUBA1A):c.190C>T:p.Arg64Trp	coding	Pathogenic
12	49186648	G	A	G49186648A	TUBA1A	NM_006009.4(TUBA1A):c.189C>T:p.Pro63=	coding	Benign/Likely_benign
12	49186662	C	T	C49186662T	TUBA1A	NM_006009.4(TUBA1A):c.175G>A:p.Gly59Ser	coding	Pathogenic
12	49186670	G	A	G49186670A	TUBA1A	NM_006009.4(TUBA1A):c.167C>T:p.Thr56Met	coding	Pathogenic
12	49186674	C	T	C49186674T	TUBA1A	NM_006009.4(TUBA1A):c.163G>A:p.Glu55Lys	coding	Pathogenic
12	49186676	C	T	C49186676T	TUBA1A	NM_006009.4(TUBA1A):c.161G>A:p.Ser54Asn	coding	Pathogenic
12	49186758	C	G	C49186758G	TUBA1A	NM_006009.4(TUBA1A):c.79G>C:p.Glu27Gln	coding	Pathogenic
12	49186763	C	A	C49186763A	TUBA1A	NM_006009.4(TUBA1A):c.74G>T:p.Cys25Phe	coding	Pathogenic
12	49186820	G	C	G49186820C	TUBA1A	NM_006009.4(TUBA1A):c.17C>G:p.Ser6Cys	coding	Pathogenic/Likely_pathogenic
12	49186832	C	T	C49186832T	TUBA1A	NM_006009.4(TUBA1A):c.5G>A:p.Arg2His	coding	Pathogenic/Likely_pathogenic
12	49186833	G	T	G49186833T	TUBA1A	NM_006009.4(TUBA1A):c.4C>A:p.Arg2Ser	coding	Pathogenic
12	49295552	C	A	C49295552A	PRPH	NM_006262.4(PRPH):c.352C>A:p.Leu118Met	coding	Benign
12	49484628	G	A	G49484628A	SPATS2	NM_023071.4(SPATS2):c.64G>A:p.Val22Ile	coding	Benign
12	49544261	C	T	C49544261T	KCNH3	NM_012284.3(KCNH3):c.1068C>T:p.Ser356=	coding	Benign
12	49544303	C	T	C49544303T	KCNH3	NM_012284.3(KCNH3):c.1110C>T:p.Leu370=	coding	Benign
12	49554328	T	C	T49554328C	KCNH3	NM_012284.3(KCNH3):c.1919-9T>C	noncoding	Benign
12	49554422	C	T	C49554422T	KCNH3	NM_012284.3(KCNH3):c.2004C>T:p.Cys668=	coding	Benign
12	49557497	C	T	C49557497T	KCNH3	NM_012284.3(KCNH3):c.2796C>T:p.Ser932=	coding	Benign
12	49598909	G	A	G49598909A	FAM186B	NM_032130.3(FAM186B):c.2210C>T:p.Thr737Met	coding	Benign
12	49598939	G	A	G49598939A	FAM186B	NM_032130.3(FAM186B):c.2180C>T:p.Ala727Val	coding	Benign
12	49599850	G	C	G49599850C	FAM186B	NM_032130.3(FAM186B):c.1790C>G:p.Ser597Cys	coding	Benign
12	49600359	C	T	C49600359T	FAM186B	NM_032130.3(FAM186B):c.1281G>A:p.Lys427=	coding	Benign
12	49600448	G	A	G49600448A	FAM186B	NM_032130.3(FAM186B):c.1192C>T:p.Arg398Cys	coding	Benign
12	49600758	C	T	C49600758T	FAM186B	NM_032130.3(FAM186B):c.882G>A:p.Leu294=	coding	Benign
12	49752982	A	G	A49752982G	TMBIM6	NM_003217.3(TMBIM6):c.66A>G:p.Ser22=	coding	Benign
12	49795616	C	T	C49795616T	NCKAP5L	NM_001037806.4(NCKAP5L):c.2244G>A:p.Gly748=	coding	Benign
12	49795785	G	A	G49795785A	NCKAP5L	NM_001037806.4(NCKAP5L):c.2075C>T:p.Thr692Ile	coding	Benign
12	49796378	G	A	G49796378A	NCKAP5L	NM_001037806.4(NCKAP5L):c.1482C>T:p.Asp494=	coding	Benign
12	49843065	T	C	T49843065C	BCDIN3D	NM_181708.3(BCDIN3D):c.23A>G:p.Asp8Gly	coding	Benign
12	49950772	G	A	G49950772A	AQP2	NM_000486.6(AQP2):c.-59G>A	noncoding	Benign
12	49950869	G	A	G49950869A	AQP2	NM_000486.5(AQP2):c.39G>A:p.Val13=	coding	Benign/Likely_benign
12	49950894	C	G	C49950894G	AQP2	NM_000486.5(AQP2):c.64C>G:p.Leu22Val	coding	Pathogenic
12	49951000	A	C	A49951000C	AQP2	NM_000486.5(AQP2):c.170A>C:p.Gln57Pro	coding	Pathogenic
12	49951033	A	G	A49951033G	AQP2	NM_000486.5(AQP2):c.203A>G:p.Asn68Ser	coding	Pathogenic
12	49951034	C	T	C49951034T	AQP2	NM_000486.5(AQP2):c.204C>T:p.Asn68=	coding	Benign
12	49951041	G	A	G49951041A	AQP2	NM_000486.5(AQP2):c.211G>A:p.Val71Met	coding	Pathogenic
12	49951107	C	T	C49951107T	AQP2	NM_000486.5(AQP2):c.277C>T:p.Gln93Ter	coding	Pathogenic
12	49951129	G	T	G49951129T	AQP2	NM_000486.5(AQP2):c.299G>T:p.Gly100Val	coding	Pathogenic
12	49951172	G	A	G49951172A	AQP2	NM_000486.5(AQP2):c.342G>A:p.Gly114=	coding	Benign
12	49951175	C	T	C49951175T	AQP2	NM_000486.5(AQP2):c.345C>T:p.Asp115=	coding	Benign/Likely_benign
12	49951193	G	A	G49951193A	AQP2	NM_000486.5(AQP2):c.360+3G>A	noncoding	Benign
12	49954168	C	T	C49954168T	AQP2	NM_000486.5(AQP2):c.374C>T:p.Thr125Met	coding	Pathogenic
12	49954171	C	T	C49954171T	AQP2	NM_000486.5(AQP2):c.377C>T:p.Thr126Met	coding	Pathogenic
12	49954212	C	T	C49954212T	AQP2	NM_000486.6(AQP2):c.418C>T:p.Gln140Ter	coding	Pathogenic
12	49954232	C	T	C49954232T	AQP2	NM_000486.5(AQP2):c.438C>T:p.Phe146=	coding	Benign/Likely_benign
12	49954233	G	A	G49954233A	AQP2	NM_000486.5(AQP2):c.439G>A:p.Ala147Thr	coding	Pathogenic
12	49954254	G	T	G49954254T	AQP2	NM_000486.6(AQP2):c.460G>T:p.Gly154Ter	coding	Pathogenic
12	49954295	T	C	T49954295C	AQP2	NM_000486.6(AQP2):c.501T>C:p.Ser167=	coding	Benign
12	49954317	G	A	G49954317A	AQP2	NM_000486.5(AQP2):c.523G>A:p.Gly175Arg	coding	Pathogenic
12	49954647	C	G	C49954647G	AQP2	NM_000486.5(AQP2):c.543C>G:p.Cys181Trp	coding	Pathogenic
12	49954663	C	T	C49954663T	AQP2	NM_000486.5(AQP2):c.559C>T:p.Arg187Cys	coding	Pathogenic
12	49954672	G	A	G49954672A	AQP2	NM_000486.5(AQP2):c.568G>A:p.Ala190Thr	coding	Pathogenic
12	49955438	T	C	T49955438C	AQP2	NM_000486.5(AQP2):c.646T>C:p.Ser216Pro	coding	Pathogenic
12	49955494	G	A	G49955494A	AQP2	NM_000486.5(AQP2):c.702G>A:p.Leu234=	coding	Benign
12	49955555	C	T	C49955555T	AQP2	NM_000486.5(AQP2):c.763C>T:p.Gln255Ter	coding	Pathogenic/Likely_pathogenic
12	49955564	G	A	G49955564A	AQP2	NM_000486.5(AQP2):c.772G>A:p.Glu258Lys	coding	Pathogenic
12	49955729	C	G	C49955729G	AQP2	NM_000486.6(AQP2):c.*121C>G	noncoding	Benign
12	49955860	G	A	G49955860A	AQP2	NM_000486.5(AQP2):c.*252G>A	noncoding	Benign
12	49955982	C	T	C49955982T	AQP2	NM_000486.5(AQP2):c.*374C>T	noncoding	Benign
12	49956138	C	T	C49956138T	AQP2	NM_000486.6(AQP2):c.*530C>T	noncoding	Benign
12	49956515	C	T	C49956515T	AQP2	NM_000486.5(AQP2):c.*907C>T	noncoding	Benign
12	49956609	G	A	G49956609A	AQP2	NM_000486.6(AQP2):c.*1001G>A	noncoding	Benign
12	49956826	T	C	T49956826C	AQP2	NM_000486.5(AQP2):c.*1218T>C	noncoding	Benign
12	49956836	T	G	T49956836G	AQP2	NM_000486.5(AQP2):c.*1228T>G	noncoding	Benign
12	49957003	C	T	C49957003T	AQP2	NM_000486.5(AQP2):c.*1395C>T	noncoding	Benign
12	49957170	T	C	T49957170C	AQP2	NM_000486.5(AQP2):c.*1562T>C	noncoding	Benign
12	49957292	T	C	T49957292C	AQP2	NM_000486.5(AQP2):c.*1684T>C	noncoding	Benign
12	49957365	A	G	A49957365G	AQP2	NM_000486.5(AQP2):c.*1757A>G	noncoding	Benign
12	49957709	C	T	C49957709T	AQP2	NM_000486.5(AQP2):c.*2101C>T	noncoding	Benign
12	49957858	C	T	C49957858T	AQP2	NM_000486.5(AQP2):c.*2250C>T	noncoding	Benign
12	49958103	A	G	A49958103G	AQP2	NM_000486.5(AQP2):c.*2495A>G	noncoding	Benign
12	49958333	A	C	A49958333C	AQP2	NM_000486.5(AQP2):c.*2725A>C	noncoding	Benign
12	49958403	T	G	T49958403G	AQP2	NM_000486.5(AQP2):c.*2795T>G	noncoding	Benign
12	49958610	G	C	G49958610C	AQP2	NM_000486.5(AQP2):c.*3002G>C	noncoding	Benign
12	49958776	T	C	T49958776C	AQP2	NM_000486.5(AQP2):c.*3168T>C	noncoding	Benign
12	49962130	C	A	C49962130A	AQP5	NM_001651.4(AQP5):c.113C>A:p.Ala38Glu	coding	Pathogenic
12	49962151	T	G	T49962151G	AQP5	NM_001651.4(AQP5):c.134T>G:p.Ile45Ser	coding	Pathogenic
12	49962386	T	G	T49962386G	AQP5	NM_001651.4(AQP5):c.363+6T>G	noncoding	Benign
12	49963495	A	G	A49963495G	AQP5	NM_001651.4(AQP5):c.367A>G:p.Asn123Asp	coding	Pathogenic
12	49963627	C	T	C49963627T	AQP5	NM_001651.4(AQP5):c.499C>T:p.Leu167=	coding	Benign
12	49964092	A	T	A49964092T	AQP5	NM_001651.4(AQP5):c.529A>T:p.Ile177Phe	coding	Pathogenic
12	49964125	C	T	C49964125T	AQP5	NM_001651.4(AQP5):c.562C>T:p.Arg188Cys	coding	Pathogenic
12	49965118	G	A	G49965118A	AQP5	NM_001651.4(AQP5):c.739G>A:p.Glu247Lys	coding	Benign
12	49965146	G	A	G49965146A	AQP5	NM_001651.4(AQP5):c.767G>A:p.Arg256Gln	coding	Benign
12	49973221	G	A	G49973221A	AQP6	NM_001652.4(AQP6):c.48G>A:p.Ala16=	coding	Benign
12	49973230	T	C	T49973230C	AQP6	NM_001652.4(AQP6):c.57T>C:p.Leu19=	coding	Benign
12	49974417	C	G	C49974417G	AQP6	NM_001652.4(AQP6):c.496C>G:p.Arg166Gly	coding	Benign
12	49974487	G	A	G49974487A	AQP6	NM_001652.4(AQP6):c.561+5G>A	noncoding	Benign
12	50058844	A	G	A50058844G	ASIC1	NM_001095.4(ASIC1):c.78A>G:p.Thr26=	coding	Benign
12	50059957	G	A	G50059957A	ASIC1	NM_001095.4(ASIC1):c.558+3G>A	noncoding	Benign
12	50077326	C	T	C50077326T	ASIC1	NM_001095.4(ASIC1):c.672C>T:p.Ile224=	coding	Benign
12	50080489	C	T	C50080489T	ASIC1	NM_001095.4(ASIC1):c.1206-9C>T	noncoding	Benign
12	50080626	A	G	A50080626G	ASIC1	NM_001095.4(ASIC1):c.1297+37A>G	coding	Benign
12	50090357	C	G	C50090357G	SMARCD1	NM_003076.5(SMARCD1):c.990C>G:p.Asp330Glu	coding	Pathogenic
12	50096916	A	G	A50096916G	SMARCD1	NM_003076.5(SMARCD1):c.1336A>G:p.Arg446Gly	coding	Pathogenic
12	50098778	G	A	G50098778A	SMARCD1	NM_003076.5(SMARCD1):c.1457G>A:p.Trp486Ter	coding	Pathogenic
12	50098804	T	C	T50098804C	SMARCD1	NM_003076.5(SMARCD1):c.1483T>C:p.Phe495Leu	coding	Pathogenic
12	50098959	C	T	C50098959T	SMARCD1	NM_003076.5(SMARCD1):c.1507C>T:p.Arg503Ter	coding	Pathogenic
12	50104691	C	A	C50104691A	GPD1	NM_005276.4(GPD1):c.159C>A:p.Ile53=	coding	Benign
12	50104692	A	G	A50104692G	GPD1	NM_005276.4(GPD1):c.160A>G:p.Ile54Val	coding	Benign
12	50106287	G	C	G50106287C	GPD1	NM_005276.4(GPD1):c.361-1G>C	noncoding	Pathogenic
12	50106297	G	A	G50106297A	GPD1	NM_005276.4(GPD1):c.370G>A:p.Glu124Lys	coding	Benign
12	50107629	G	A	G50107629A	GPD1	NM_005276.4(GPD1):c.675G>A:p.Ala225=	coding	Benign
12	50107640	G	C	G50107640C	GPD1	NM_005276.4(GPD1):c.686G>C:p.Arg229Pro	coding	Pathogenic
12	50107810	G	A	G50107810A	GPD1	NM_005276.4(GPD1):c.846+10G>A	noncoding	Benign
12	50108077	C	T	C50108077T	GPD1	NM_005276.4(GPD1):c.900C>T:p.Pro300=	coding	Benign
12	50109459	C	T	C50109459T	GPD1	NM_005276.4(GPD1):c.990C>T:p.Tyr330=	coding	Benign
12	50109495	G	A	G50109495A	GPD1	NM_005276.4(GPD1):c.1026G>A:p.Leu342=	coding	Benign
12	50120100	G	A	G50120100A	COX14	NM_032901.4(COX14):c.57G>A:p.Met19Ile	coding	Pathogenic
12	50167136	C	T	C50167136T	CERS5	NM_147190.5(CERS5):c.162G>A:p.Ala54=	coding	Benign
12	50360925	A	G	A50360925G	FAM186A	NM_001145475.3(FAM186A):c.414T>C:p.Asn138=	coding	Benign
12	50626019	C	T	C50626019T	DIP2B	NM_173602.3(DIP2B):c.144C>T:p.Leu48=	coding	Benign
12	50674626	G	A	G50674626A	DIP2B	NM_173602.3(DIP2B):c.793G>A:p.Asp265Asn	coding	Benign/Likely_benign
12	50678808	C	G	C50678808G	DIP2B	NM_173602.3(DIP2B):c.1046C>G:p.Thr349Ser	coding	Benign
12	50691129	G	A	G50691129A	DIP2B	NM_173602.3(DIP2B):c.1632G>A:p.Ser544=	coding	Benign
12	50699136	T	C	T50699136C	DIP2B	NM_173602.3(DIP2B):c.2259T>C:p.Cys753=	coding	Benign
12	50732419	G	A	G50732419A	DIP2B	NM_173602.3(DIP2B):c.3864G>A:p.Glu1288=	coding	Benign
12	50732429	G	A	G50732429A	DIP2B	NM_173602.3(DIP2B):c.3874G>A:p.Val1292Ile	coding	Benign
12	50739564	C	T	C50739564T	DIP2B	NM_173602.3(DIP2B):c.4332C>T:p.Thr1444=	coding	Benign
12	50986449	A	G	A50986449G	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1933T>C	coding	Benign
12	50986839	C	A	C50986839A	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1543G>T	coding	Benign
12	50987052	C	T	C50987052T	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1330G>A	coding	Benign
12	50987064	C	T	C50987064T	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1318G>A	coding	Benign
12	50987110	T	G	T50987110G	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1272A>C	coding	Benign
12	50987294	C	T	C50987294T	SLC11A2	NM_001174126.2(SLC11A2):c.1629+1088G>A	coding	Benign
12	50987453	T	G	T50987453G	SLC11A2	NM_001174126.2(SLC11A2):c.1629+929A>C	coding	Benign
12	50987536	C	T	C50987536T	SLC11A2	NM_001174126.2(SLC11A2):c.1629+846G>A	coding	Benign
12	50987935	C	T	C50987935T	SLC11A2	NM_001174126.2(SLC11A2):c.1629+447G>A	coding	Benign
12	50987967	T	C	T50987967C	SLC11A2	NM_001174126.2(SLC11A2):c.1629+415A>G	coding	Benign
12	50988449	T	C	T50988449C	SLC11A2	NM_000617.3(SLC11A2):c.1576-14A>G	noncoding	Benign
12	50992283	A	G	A50992283G	SLC11A2	NM_000617.3(SLC11A2):c.1254T>C:p.Ile418=	coding	Benign
12	50992291	G	A	G50992291A	SLC11A2	NM_000617.3(SLC11A2):c.1246C>T:p.Arg416Cys	coding	Pathogenic
12	50995726	A	G	A50995726G	SLC11A2	NM_000617.3(SLC11A2):c.893T>C:p.Ile298Thr	coding	Benign
12	50999214	C	A	C50999214A	SLC11A2	NM_000617.3(SLC11A2):c.635G>T:p.Gly212Val	coding	Pathogenic
12	50999224	C	T	C50999224T	SLC11A2	NM_000617.3(SLC11A2):c.625G>A:p.Ala209Thr	coding	Benign
12	50999333	C	T	C50999333T	SLC11A2	NM_000617.3(SLC11A2):c.607+12G>A	noncoding	Benign
12	51005365	C	A	C51005365A	SLC11A2	NM_000617.3(SLC11A2):c.255G>T:p.Leu85=	coding	Benign
12	51005436	A	G	A51005436G	SLC11A2	NM_000617.3(SLC11A2):c.184T>C:p.Tyr62His	coding	Benign
12	51010684	C	T	C51010684T	SLC11A2	NM_000617.3(SLC11A2):c.34+11G>A	noncoding	Benign
12	51010689	A	C	A51010689C	SLC11A2	NM_000617.3(SLC11A2):c.34+6T>G	noncoding	Benign
12	51026305	C	G	C51026305G	SLC11A2	NM_000617.3(SLC11A2):c.-39+5G>C	noncoding	Benign
12	51026349	C	T	C51026349T	SLC11A2	NM_000617.3(SLC11A2):c.-78G>A	coding	Benign
12	51026381	C	A	C51026381A	SLC11A2	NM_000617.3(SLC11A2):c.-110G>T	coding	Benign
12	51116430	T	A	T51116430A	TFCP2	NM_005653.5(TFCP2):c.352-10A>T	noncoding	Benign
12	51355799	G	A	G51355799A	GALNT6	NM_007210.4(GALNT6):c.1755+7C>T	noncoding	Benign
12	51359233	C	T	C51359233T	GALNT6	NM_007210.4(GALNT6):c.1267G>A:p.Val423Ile	coding	Benign
12	51377316	C	T	C51377316T	GALNT6	NM_007210.4(GALNT6):c.543G>A:p.Val181=	coding	Benign
12	51379368	C	G	C51379368G	GALNT6	NM_007210.4(GALNT6):c.414G>C:p.Lys138Asn	coding	Benign
12	51591347	C	T	C51591347T	SCN8A	NM_001330260.2(SCN8A):c.-67C>T	noncoding	Benign
12	51662958	C	T	C51662958T	SCN8A	NM_001330260.2(SCN8A):c.141C>T:p.Asp47=	coding	Benign/Likely_benign
12	51684554	T	C	T51684554C	SCN8A	NM_001330260.2(SCN8A):c.395+262T>C	noncoding	Benign
12	51687181	C	T	C51687181T	SCN8A	NM_001330260.2(SCN8A):c.576C>T:p.Asp192=	coding	Benign
12	51688772	T	C	T51688772C	SCN8A	NM_001330260.2(SCN8A):c.615-233T>C	coding	Pathogenic
12	51688786	A	G	A51688786G	SCN8A	NM_001330260.2(SCN8A):c.615-219A>G	coding	Pathogenic
12	51688790	T	A	T51688790A	SCN8A	NM_001330260.2(SCN8A):c.615-215T>A	coding	Pathogenic
12	51688800	A	G	A51688800G	SCN8A	NM_001330260.2(SCN8A):c.615-205A>G	coding	Benign/Likely_benign
12	51688810	A	G	A51688810G	SCN8A	NM_001330260.2(SCN8A):c.615-195A>G	coding	Pathogenic
12	51699555	A	T	A51699555T	SCN8A	NM_001330260.2(SCN8A):c.707-15A>T	noncoding	Benign
12	51699581	A	C	A51699581C	SCN8A	NM_001330260.2(SCN8A):c.718A>C:p.Ile240Leu	coding	Pathogenic
12	51699614	C	T	C51699614T	SCN8A	NM_001330260.2(SCN8A):c.751C>T:p.Leu251=	coding	Benign/Likely_benign
12	51699615	T	G	T51699615G	SCN8A	NM_001330260.2(SCN8A):c.752T>G:p.Leu251Arg	coding	Pathogenic
12	51699642	T	C	T51699642C	SCN8A	NM_001330260.2(SCN8A):c.779T>C:p.Phe260Ser	coding	Pathogenic
12	51699718	C	T	C51699718T	SCN8A	NM_001330260.2(SCN8A):c.855C>T:p.Pro285=	coding	Benign
12	51699800	C	T	C51699800T	SCN8A	NM_001330260.2(SCN8A):c.928+9C>T	noncoding	Benign/Likely_benign
12	51702898	A	G	A51702898G	SCN8A	NM_001330260.2(SCN8A):c.1118A>G:p.Glu373Gly	coding	Pathogenic
12	51705369	C	T	C51705369T	SCN8A	NM_001330260.2(SCN8A):c.1135-48C>T	noncoding	Benign
12	51705497	G	A	G51705497A	SCN8A	NM_001330260.2(SCN8A):c.1215G>A:p.Leu405=	coding	Benign/Likely_benign
12	51705503	G	C	G51705503C	SCN8A	NM_001330260.2(SCN8A):c.1221G>C:p.Leu407Phe	coding	Pathogenic
12	51705510	G	C	G51705510C	SCN8A	NM_001330260.2(SCN8A):c.1228G>C:p.Val410Leu	coding	Pathogenic
12	51706550	A	G	A51706550G	SCN8A	NM_001330260.2(SCN8A):c.1470A>G:p.Glu490=	coding	Benign/Likely_benign
12	51706589	C	A	C51706589A	SCN8A	NM_001330260.2(SCN8A):c.1509C>A:p.Leu503=	coding	Benign/Likely_benign
12	51721309	G	A	G51721309A	SCN8A	NM_001330260.2(SCN8A):c.1636-237G>A	noncoding	Benign
12	51721743	G	T	G51721743T	SCN8A	NM_001330260.2(SCN8A):c.1833G>T:p.Arg611=	coding	Benign
12	51721807	C	G	C51721807G	SCN8A	NM_001330260.2(SCN8A):c.1897C>G:p.Leu633Val	coding	Benign
12	51721879	T	G	T51721879G	SCN8A	NM_001330260.2(SCN8A):c.1969T>G:p.Ser657Ala	coding	Benign
12	51721923	G	T	G51721923T	SCN8A	NM_001330260.2(SCN8A):c.1998+15G>T	noncoding	Benign
12	51745960	G	A	G51745960A	SCN8A	NM_001330260.2(SCN8A):c.2056G>A:p.Asp686Asn	coding	Benign
12	51746002	A	T	A51746002T	SCN8A	NM_001330260.2(SCN8A):c.2098A>T:p.Ile700Leu	coding	Benign
12	51746022	T	C	T51746022C	SCN8A	NM_001330260.2(SCN8A):c.2118T>C:p.Asn706=	coding	Benign
12	51762497	A	G	A51762497G	SCN8A	NM_001330260.2(SCN8A):c.2371-6A>G	noncoding	Benign/Likely_benign
12	51762526	G	A	G51762526A	SCN8A	NM_001330260.2(SCN8A):c.2394G>A:p.Ala798=	coding	Benign
12	51762607	C	A	C51762607A	SCN8A	NM_001330260.2(SCN8A):c.2475C>A:p.Val825=	coding	Benign
12	51762669	T	C	T51762669C	SCN8A	NM_001330260.2(SCN8A):c.2537T>C:p.Phe846Ser	coding	Pathogenic
12	51765750	T	A	T51765750A	SCN8A	NM_001330260.2(SCN8A):c.2624T>A:p.Leu875Gln	coding	Pathogenic
12	51765758	C	T	C51765758T	SCN8A	NM_001330260.2(SCN8A):c.2632C>T:p.Leu878=	coding	Benign/Likely_benign
12	51765794	G	A	G51765794A	SCN8A	NM_001330260.2(SCN8A):c.2668G>A:p.Ala890Thr	coding	Pathogenic
12	51766005	T	A	T51766005A	SCN8A	NM_001330260.2(SCN8A):c.2879T>A:p.Val960Asp	coding	Pathogenic
12	51766016	G	C	G51766016C	SCN8A	NM_001330260.2(SCN8A):c.2890G>C:p.Gly964Arg	coding	Pathogenic
12	51766304	T	C	T51766304C	SCN8A	NM_001330260.2(SCN8A):c.2901+277T>C	noncoding	Benign
12	51768893	T	C	T51768893C	SCN8A	NM_001330260.2(SCN8A):c.2930T>C:p.Leu977Pro	coding	Pathogenic
12	51768899	C	T	C51768899T	SCN8A	NM_001330260.2(SCN8A):c.2936C>T:p.Ser979Phe	coding	Pathogenic
12	51768915	C	G	C51768915G	SCN8A	NM_001330260.2(SCN8A):c.2952C>G:p.Asn984Lys	coding	Pathogenic
12	51769113	T	G	T51769113G	SCN8A	NM_001330260.2(SCN8A):c.3150T>G:p.Gly1050=	coding	Benign
12	51769284	C	T	C51769284T	SCN8A	NM_001330260.2(SCN8A):c.3321C>T:p.Asn1107=	coding	Benign/Likely_benign
12	51769464	A	G	A51769464G	SCN8A	NM_001330260.2(SCN8A):c.3372+129A>G	noncoding	Benign
12	51769859	C	T	C51769859T	SCN8A	NM_001330260.2(SCN8A):c.3373-9C>T	noncoding	Benign
12	51769879	C	A	C51769879A	SCN8A	NM_001330260.2(SCN8A):c.3384C>A:p.Asp1128Glu	coding	Benign
12	51770005	G	A	G51770005A	SCN8A	NM_001330260.2(SCN8A):c.3490+20G>A	noncoding	Benign
12	51770243	G	A	G51770243A	SCN8A	NM_001330260.2(SCN8A):c.3490+258G>A	noncoding	Benign
12	51770948	A	G	A51770948G	SCN8A	NM_001330260.2(SCN8A):c.3645+265A>G	noncoding	Benign
12	51780517	G	T	G51780517T	SCN8A	NM_001330260.2(SCN8A):c.3820-132G>T	noncoding	Benign
12	51780651	C	T	C51780651T	SCN8A	NM_001330260.2(SCN8A):c.3822C>T:p.Val1274=	coding	Benign/Likely_benign
12	51780778	T	C	T51780778C	SCN8A	NM_001330260.2(SCN8A):c.3942+7T>C	noncoding	Benign
12	51786334	G	A	G51786334A	SCN8A	NM_001330260.2(SCN8A):c.3943-208G>A	noncoding	Benign
12	51786552	A	G	A51786552G	SCN8A	NM_001330260.2(SCN8A):c.3953A>G:p.Asn1318Ser	coding	Pathogenic
12	51786556	C	T	C51786556T	SCN8A	NM_001330260.2(SCN8A):c.3957C>T:p.Ala1319=	coding	Benign/Likely_benign
12	51786565	C	T	C51786565T	SCN8A	NM_001330260.2(SCN8A):c.3966C>T:p.Gly1322=	coding	Benign/Likely_benign
12	51786590	C	G	C51786590G	SCN8A	NM_001330260.2(SCN8A):c.3991C>G:p.Leu1331Val	coding	Pathogenic
12	51786721	T	A	T51786721A	SCN8A	NM_001330260.2(SCN8A):c.4122T>A:p.Thr1374=	coding	Benign
12	51786817	T	C	T51786817C	SCN8A	NM_001330260.2(SCN8A):c.4218T>C:p.Leu1406=	coding	Benign/Likely_benign
12	51788668	C	T	C51788668T	SCN8A	NM_001330260.2(SCN8A):c.4228-27C>T	noncoding	Benign
12	51788745	G	A	G51788745A	SCN8A	NM_001330260.2(SCN8A):c.4278G>A:p.Arg1426=	coding	Benign/Likely_benign
12	51788761	A	G	A51788761G	SCN8A	NM_001330260.2(SCN8A):c.4281+13A>G	noncoding	Benign
12	51789393	A	T	A51789393T	SCN8A	NM_001330260.2(SCN8A):c.4394A>T:p.Asp1465Val	coding	Pathogenic
12	51789396	A	C	A51789396C	SCN8A	NM_001330260.2(SCN8A):c.4397A>C:p.Asn1466Thr	coding	Pathogenic
12	51789397	C	A	C51789397A	SCN8A	NM_001330260.2(SCN8A):c.4398C>A:p.Asn1466Lys	coding	Pathogenic
12	51789419	A	G	A51789419G	SCN8A	NM_001330260.2(SCN8A):c.4419+1A>G	coding	Pathogenic
12	51789701	C	T	C51789701T	SCN8A	NM_001330260.2(SCN8A):c.4419+283C>T	noncoding	Benign
12	51790401	G	A	G51790401A	SCN8A	NM_001330260.2(SCN8A):c.4423G>A:p.Gly1475Arg	coding	Pathogenic/Likely_pathogenic
12	51790413	A	G	A51790413G	SCN8A	NM_001330260.2(SCN8A):c.4435A>G:p.Ile1479Val	coding	Pathogenic
12	51790416	T	A	T51790416A	SCN8A	NM_001330260.2(SCN8A):c.4438T>A:p.Phe1480Ile	coding	Pathogenic
12	51790425	G	A	G51790425A	SCN8A	NM_001330260.2(SCN8A):c.4447G>A:p.Glu1483Lys	coding	Pathogenic
12	51790487	T	C	T51790487C	SCN8A	NM_001330260.2(SCN8A):c.4509T>C:p.Pro1503=	coding	Benign
12	51790558	A	G	A51790558G	SCN8A	NM_001330260.2(SCN8A):c.4524+56A>G	noncoding	Benign
12	51790756	T	C	T51790756C	SCN8A	NM_001330260.2(SCN8A):c.4524+254T>C	noncoding	Benign
12	51790801	G	A	G51790801A	SCN8A	NM_001330260.2(SCN8A):c.4524+299G>A	noncoding	Benign
12	51794389	G	A	G51794389A	SCN8A	NM_001330260.2(SCN8A):c.4543G>A:p.Val1515Ile	coding	Benign
12	51794625	C	T	C51794625T	SCN8A	NM_001330260.2(SCN8A):c.4779C>T:p.Val1593=	coding	Benign
12	51794633	C	G	C51794633G	SCN8A	NM_001330260.2(SCN8A):c.4787C>G:p.Ser1596Cys	coding	Pathogenic
12	51794652	T	C	T51794652C	SCN8A	NM_001330260.2(SCN8A):c.4795+11T>C	noncoding	Benign
12	51806299	A	G	A51806299G	SCN8A	NM_001330260.2(SCN8A):c.4813A>G:p.Ile1605Val	coding	Pathogenic
12	51806336	G	A	G51806336A	SCN8A	NM_001330260.2(SCN8A):c.4850G>A:p.Arg1617Gln	coding	Pathogenic
12	51806345	G	T	G51806345T	SCN8A	NM_001330260.2(SCN8A):c.4859G>T:p.Arg1620Leu	coding	Pathogenic
12	51806348	T	G	T51806348G	SCN8A	NM_001330260.2(SCN8A):c.4862T>G:p.Leu1621Trp	coding	Pathogenic
12	51806351	C	A	C51806351A	SCN8A	NM_001330260.2(SCN8A):c.4865C>A:p.Ala1622Asp	coding	Pathogenic
12	51806359	G	A	G51806359A	SCN8A	NM_001330260.2(SCN8A):c.4873G>A:p.Gly1625Arg	coding	Pathogenic
12	51806434	G	A	G51806434A	SCN8A	NM_001330260.2(SCN8A):c.4948G>A:p.Ala1650Thr	coding	Pathogenic
12	51806435	C	T	C51806435T	SCN8A	NM_001330260.2(SCN8A):c.4949C>T:p.Ala1650Val	coding	Pathogenic
12	51806455	C	T	C51806455T	SCN8A	NM_001330260.2(SCN8A):c.4969C>T:p.Leu1657=	coding	Benign/Likely_benign
12	51806642	C	G	C51806642G	SCN8A	NM_001330260.2(SCN8A):c.5156C>G:p.Pro1719Arg	coding	Pathogenic
12	51806788	A	G	A51806788G	SCN8A	NM_001330260.2(SCN8A):c.5302A>G:p.Asn1768Asp	coding	Pathogenic
12	51806958	C	A	C51806958A	SCN8A	NM_001330260.2(SCN8A):c.5472C>A:p.Pro1824=	coding	Benign
12	51807000	C	T	C51807000T	SCN8A	NM_001330260.2(SCN8A):c.5514C>T:p.Ser1838=	coding	Benign
12	51807080	T	C	T51807080C	SCN8A	NM_001330260.2(SCN8A):c.5594T>C:p.Leu1865Pro	coding	Pathogenic
12	51807087	G	A	G51807087A	SCN8A	NM_001330260.2(SCN8A):c.5601G>A:p.Gln1867=	coding	Benign/Likely_benign
12	51807096	A	T	A51807096T	SCN8A	NM_001330260.2(SCN8A):c.5610A>T:p.Glu1870Asp	coding	Pathogenic
12	51807100	C	T	C51807100T	SCN8A	NM_001330260.2(SCN8A):c.5614C>T:p.Arg1872Trp	coding	Pathogenic
12	51807101	G	A	G51807101A	SCN8A	NM_001330260.2(SCN8A):c.5615G>A:p.Arg1872Gln	coding	Pathogenic
12	51807101	G	T	G51807101T	SCN8A	NM_001330260.2(SCN8A):c.5615G>T:p.Arg1872Leu	coding	Pathogenic
12	51907469	G	C	G51907469C	ACVRL1	NC_000012.12:g.51907469G>C	noncoding	Benign
12	51907655	C	G	C51907655G	ACVRL1	NM_000020.2(ACVRL1):c.-46C>G	noncoding	Benign
12	51912243	C	G	C51912243G	ACVRL1	NM_000020.3(ACVRL1):c.-5-227C>G	noncoding	Benign
12	51912437	C	T	C51912437T	ACVRL1	NM_000020.2(ACVRL1):c.-5-33C>T	noncoding	Benign
12	51912532	C	T	C51912532T	ACVRL1	NM_000020.2(ACVRL1):c.58C>T:p.Gln20Ter	coding	Pathogenic
12	51912557	A	G	A51912557G	ACVRL1	NM_000020.2(ACVRL1):c.61+22A>G	noncoding	Benign
12	51913030	G	T	G51913030T	ACVRL1	NM_000020.3(ACVRL1):c.62-69G>T	noncoding	Benign
12	51913115	G	A	G51913115A	ACVRL1	NM_000020.3(ACVRL1):c.78G>A:p.Pro26=	coding	Benign
12	51913139	C	A	C51913139A	ACVRL1	NM_000020.3(ACVRL1):c.102C>A:p.Cys34Ter	coding	Pathogenic
12	51913187	G	T	G51913187T	ACVRL1	NM_000020.2(ACVRL1):c.150G>T:p.Trp50Cys	coding	Pathogenic
12	51913189	G	A	G51913189A	ACVRL1	NM_000020.2(ACVRL1):c.152G>A:p.Cys51Tyr	coding	Pathogenic
12	51913227	C	T	C51913227T	ACVRL1	NM_000020.2(ACVRL1):c.190C>T:p.Gln64Ter	coding	Pathogenic
12	51913236	C	T	C51913236T	ACVRL1	NM_000020.2(ACVRL1):c.199C>T:p.Arg67Trp	coding	Pathogenic
12	51913237	G	A	G51913237A	ACVRL1	NM_000020.2(ACVRL1):c.200G>A:p.Arg67Gln	coding	Pathogenic/Likely_pathogenic
12	51913243	G	A	G51913243A	ACVRL1	NM_000020.3(ACVRL1):c.206G>A:p.Cys69Tyr	coding	Pathogenic
12	51913243	G	T	G51913243T	ACVRL1	NM_000020.2(ACVRL1):c.206G>T:p.Cys69Phe	coding	Pathogenic
12	51913244	C	A	C51913244A	ACVRL1	NM_000020.3(ACVRL1):c.207C>A:p.Cys69Ter	coding	Pathogenic
12	51913244	C	T	C51913244T	ACVRL1	NM_000020.2(ACVRL1):c.207C>T:p.Cys69=	coding	Benign
12	51913260	G	T	G51913260T	ACVRL1	NM_000020.3(ACVRL1):c.223G>T:p.Glu75Ter	coding	Pathogenic
12	51913268	C	G	C51913268G	ACVRL1	NM_000020.3(ACVRL1):c.231C>G:p.Cys77Trp	coding	Pathogenic
12	51913301	C	G	C51913301G	ACVRL1	NM_000020.2(ACVRL1):c.264C>G:p.Tyr88Ter	coding	Pathogenic
12	51913302	T	C	T51913302C	ACVRL1	NM_000020.2(ACVRL1):c.265T>C:p.Cys89Arg	coding	Pathogenic
12	51913306	G	A	G51913306A	ACVRL1	NM_000020.2(ACVRL1):c.269G>A:p.Cys90Tyr	coding	Pathogenic/Likely_pathogenic
12	51913307	C	A	C51913307A	ACVRL1	NM_000020.2(ACVRL1):c.270C>A:p.Cys90Ter	coding	Pathogenic
12	51913351	G	T	G51913351T	ACVRL1	NM_000020.2(ACVRL1):c.313+1G>T	coding	Pathogenic
12	51913361	C	T	C51913361T	ACVRL1	NM_000020.3(ACVRL1):c.313+11C>T	noncoding	Benign
12	51913390	G	C	G51913390C	ACVRL1	NM_000020.2(ACVRL1):c.313+40G>C	noncoding	Benign
12	51913494	G	C	G51913494C	ACVRL1	NM_000020.3(ACVRL1):c.314-65G>C	noncoding	Benign
12	51913524	A	G	A51913524G	ACVRL1	NM_000020.2(ACVRL1):c.314-35A>G	noncoding	Benign
12	51913575	G	A	G51913575A	ACVRL1	NM_000020.2(ACVRL1):c.330G>A:p.Ser110=	coding	Benign
12	51913579	C	T	C51913579T	ACVRL1	NM_000020.3(ACVRL1):c.334C>T:p.Gln112Ter	coding	Pathogenic
12	51913597	C	T	C51913597T	ACVRL1	NM_000020.3(ACVRL1):c.352C>T:p.Gln118Ter	coding	Pathogenic
12	51913675	C	T	C51913675T	ACVRL1	NM_000020.2(ACVRL1):c.430C>T:p.Arg144Ter	coding	Pathogenic
12	51913684	C	T	C51913684T	ACVRL1	NM_000020.2(ACVRL1):c.439C>T:p.Gln147Ter	coding	Pathogenic
12	51913720	G	T	G51913720T	ACVRL1	NM_000020.3(ACVRL1):c.475G>T:p.Glu159Ter	coding	Pathogenic
12	51913771	G	A	G51913771A	ACVRL1	NM_000020.2(ACVRL1):c.525+1G>A	coding	Pathogenic
12	51913973	G	A	G51913973A	ACVRL1	NM_000020.2(ACVRL1):c.526-1G>A	noncoding	Pathogenic
12	51913991	C	T	C51913991T	ACVRL1	NM_000020.3(ACVRL1):c.543C>T:p.Asp181=	coding	Benign
12	51914041	T	A	T51914041A	ACVRL1	NM_000020.2(ACVRL1):c.593T>A:p.Val198Glu	coding	Pathogenic
12	51914046	C	G	C51914046G	ACVRL1	NM_000020.3(ACVRL1):c.598C>G:p.Arg200Gly	coding	Pathogenic
12	51914049	C	T	C51914049T	ACVRL1	NM_000020.2(ACVRL1):c.601C>T:p.Gln201Ter	coding	Pathogenic
12	51914050	A	G	A51914050G	ACVRL1	NM_000020.2(ACVRL1):c.602A>G:p.Gln201Arg	coding	Pathogenic
12	51914069	T	A	T51914069A	ACVRL1	NM_000020.3(ACVRL1):c.621T>A:p.Cys207Ter	coding	Pathogenic
12	51914074	G	T	G51914074T	ACVRL1	NM_000020.3(ACVRL1):c.625+1G>T	coding	Pathogenic
12	51914075	T	C	T51914075C	ACVRL1	NM_000020.2(ACVRL1):c.625+2T>C	noncoding	Pathogenic
12	51914237	T	C	T51914237C	ACVRL1	NM_000020.2(ACVRL1):c.625+164T>C	noncoding	Benign
12	51914386	C	T	C51914386T	ACVRL1	NM_000020.2(ACVRL1):c.626-53C>T	noncoding	Benign
12	51914436	C	G	C51914436G	ACVRL1	NM_000020.2(ACVRL1):c.626-3C>G	noncoding	Pathogenic
12	51914437	A	G	A51914437G	ACVRL1	NM_000020.3(ACVRL1):c.626-2A>G	noncoding	Pathogenic
12	51914445	G	A	G51914445A	ACVRL1	NM_000020.2(ACVRL1):c.632G>A:p.Gly211Asp	coding	Pathogenic/Likely_pathogenic
12	51914452	T	G	T51914452G	ACVRL1	NM_000020.2(ACVRL1):c.639T>G:p.Tyr213Ter	coding	Pathogenic
12	51914455	C	T	C51914455T	ACVRL1	NM_000020.2(ACVRL1):c.642C>T:p.Gly214=	coding	Benign/Likely_benign
12	51914464	G	A	G51914464A	ACVRL1	NM_000020.2(ACVRL1):c.651G>A:p.Trp217Ter	coding	Pathogenic
12	51914465	C	T	C51914465T	ACVRL1	NM_000020.3(ACVRL1):c.652C>T:p.Arg218Trp	coding	Benign
12	51914511	C	T	C51914511T	ACVRL1	NM_000020.2(ACVRL1):c.698C>T:p.Ser233Leu	coding	Pathogenic/Likely_pathogenic
12	51914537	G	T	G51914537T	ACVRL1	NM_000020.3(ACVRL1):c.724G>T:p.Glu242Ter	coding	Pathogenic
12	51914560	G	A	G51914560A	ACVRL1	NM_000020.3(ACVRL1):c.747G>A:p.Val249=	coding	Benign
12	51914572	C	T	C51914572T	ACVRL1	NM_000020.3(ACVRL1):c.759C>T:p.His253=	coding	Benign/Likely_benign
12	51914586	G	C	G51914586C	ACVRL1	NM_000020.3(ACVRL1):c.772+1G>C	coding	Pathogenic
12	51914612	G	C	G51914612C	ACVRL1	NM_000020.2(ACVRL1):c.772+27G>C	noncoding	Benign
12	51915240	A	G	A51915240G	ACVRL1	NM_000020.2(ACVRL1):c.788A>G:p.Asp263Gly	coding	Pathogenic
12	51915269	C	T	C51915269T	ACVRL1	NM_000020.2(ACVRL1):c.817C>T:p.Leu273=	coding	Benign
12	51915270	T	C	T51915270C	ACVRL1	NM_000020.2(ACVRL1):c.818T>C:p.Leu273Pro	coding	Pathogenic
12	51915274	G	A	G51915274A	ACVRL1	NM_000020.2(ACVRL1):c.822G>A:p.Trp274Ter	coding	Pathogenic
12	51915293	G	T	G51915293T	ACVRL1	NM_000020.2(ACVRL1):c.841G>T:p.Glu281Ter	coding	Pathogenic
12	51915305	C	T	C51915305T	ACVRL1	NM_000020.2(ACVRL1):c.853C>T:p.Leu285Phe	coding	Pathogenic
12	51915306	T	C	T51915306C	ACVRL1	NM_000020.2(ACVRL1):c.854T>C:p.Leu285Pro	coding	Pathogenic
12	51915310	C	A	C51915310A	ACVRL1	NM_000020.3(ACVRL1):c.858C>A:p.Tyr286Ter	coding	Pathogenic
12	51915326	C	T	C51915326T	ACVRL1	NM_000020.3(ACVRL1):c.874C>T:p.Gln292Ter	coding	Pathogenic
12	51915365	T	C	T51915365C	ACVRL1	NM_000020.2(ACVRL1):c.913T>C:p.Ser305Pro	coding	Pathogenic
12	51915366	C	T	C51915366T	ACVRL1	NM_000020.2(ACVRL1):c.914C>T:p.Ser305Phe	coding	Pathogenic
12	51915376	C	A	C51915376A	ACVRL1	NM_000020.2(ACVRL1):c.924C>A:p.Cys308Ter	coding	Pathogenic
12	51915388	C	G	C51915388G	ACVRL1	NM_000020.2(ACVRL1):c.936C>G:p.His312Gln	coding	Pathogenic
12	51915392	C	T	C51915392T	ACVRL1	NM_000020.2(ACVRL1):c.940C>T:p.His314Tyr	coding	Pathogenic
12	51915402	T	C	T51915402C	ACVRL1	NM_000020.2(ACVRL1):c.950T>C:p.Ile317Thr	coding	Pathogenic
12	51915407	G	C	G51915407C	ACVRL1	NM_000020.2(ACVRL1):c.955G>C:p.Gly319Arg	coding	Pathogenic
12	51915438	G	A	G51915438A	ACVRL1	NM_000020.2(ACVRL1):c.986G>A:p.Arg329His	coding	Pathogenic/Likely_pathogenic
12	51915445	C	T	C51915445T	ACVRL1	NM_000020.2(ACVRL1):c.993C>T:p.Phe331=	coding	Benign/Likely_benign
12	51915450	G	T	G51915450T	ACVRL1	NM_000020.2(ACVRL1):c.998G>T:p.Ser333Ile	coding	Pathogenic
12	51915467	A	T	A51915467T	ACVRL1	NM_000020.3(ACVRL1):c.1015A>T:p.Lys339Ter	coding	Pathogenic
12	51915479	C	T	C51915479T	ACVRL1	NM_000020.2(ACVRL1):c.1027C>T:p.Gln343Ter	coding	Pathogenic
12	51915482	T	C	T51915482C	ACVRL1	NM_001077401.2(ACVRL1):c.1030T>C:p.Cys344Arg	coding	Pathogenic
12	51915483	G	A	G51915483A	ACVRL1	NM_000020.3(ACVRL1):c.1031G>A:p.Cys344Tyr	coding	Pathogenic
12	51915498	T	C	T51915498C	ACVRL1	NM_000020.2(ACVRL1):c.1046T>C:p.Leu349Pro	coding	Pathogenic
12	51915500	G	C	G51915500C	ACVRL1	NM_000020.2(ACVRL1):c.1048G>C:p.Gly350Arg	coding	Pathogenic
12	51916042	C	A	C51916042A	ACVRL1	NM_000020.2(ACVRL1):c.1055C>A:p.Ala352Asp	coding	Pathogenic/Likely_pathogenic
12	51916107	C	T	C51916107T	ACVRL1	NM_000020.2(ACVRL1):c.1120C>T:p.Arg374Trp	coding	Pathogenic/Likely_pathogenic
12	51916108	G	A	G51916108A	ACVRL1	NM_000020.2(ACVRL1):c.1121G>A:p.Arg374Gln	coding	Pathogenic
12	51916109	G	T	G51916109T	ACVRL1	NM_000020.2(ACVRL1):c.1122G>T:p.Arg374=	coding	Benign
12	51916111	A	G	A51916111G	ACVRL1	NM_000020.2(ACVRL1):c.1124A>G:p.Tyr375Cys	coding	Pathogenic
12	51916114	T	G	T51916114G	ACVRL1	NM_000020.2(ACVRL1):c.1127T>G:p.Met376Arg	coding	Pathogenic
12	51916118	A	G	A51916118G	ACVRL1	NM_000020.3(ACVRL1):c.1131A>G:p.Ala377=	coding	Benign/Likely_benign
12	51916119	C	T	C51916119T	ACVRL1	NM_000020.3(ACVRL1):c.1132C>T:p.Pro378Ser	coding	Pathogenic/Likely_pathogenic
12	51916122	G	A	G51916122A	ACVRL1	NM_000020.2(ACVRL1):c.1135G>A:p.Glu379Lys	coding	Pathogenic/Likely_pathogenic
12	51916129	T	C	T51916129C	ACVRL1	NM_000020.2(ACVRL1):c.1142T>C:p.Leu381Pro	coding	Pathogenic
12	51916134	G	T	G51916134T	ACVRL1	NM_000020.2(ACVRL1):c.1147G>T:p.Glu383Ter	coding	Pathogenic
12	51916158	G	T	G51916158T	ACVRL1	NM_000020.3(ACVRL1):c.1171G>T:p.Glu391Ter	coding	Pathogenic
12	51916180	T	A	T51916180A	ACVRL1	NM_000020.2(ACVRL1):c.1193T>A:p.Ile398Asn	coding	Pathogenic
12	51916182	T	C	T51916182C	ACVRL1	NM_000020.2(ACVRL1):c.1195T>C:p.Trp399Arg	coding	Pathogenic
12	51916183	G	A	G51916183A	ACVRL1	NM_000020.3(ACVRL1):c.1196G>A:p.Trp399Ter	coding	Pathogenic
12	51916183	G	C	G51916183C	ACVRL1	NM_000020.2(ACVRL1):c.1196G>C:p.Trp399Ser	coding	Pathogenic
12	51916183	G	T	G51916183T	ACVRL1	NM_000020.2(ACVRL1):c.1196G>T:p.Trp399Leu	coding	Pathogenic
12	51916184	G	A	G51916184A	ACVRL1	NM_000020.3(ACVRL1):c.1197G>A:p.Trp399Ter	coding	Pathogenic
12	51916204	G	A	G51916204A	ACVRL1	NM_000020.2(ACVRL1):c.1217G>A:p.Trp406Ter	coding	Pathogenic
12	51916208	G	T	G51916208T	ACVRL1	NM_000020.2(ACVRL1):c.1221G>T:p.Glu407Asp	coding	Pathogenic
12	51916218	C	T	C51916218T	ACVRL1	NM_000020.2(ACVRL1):c.1231C>T:p.Arg411Trp	coding	Pathogenic/Likely_pathogenic
12	51916219	G	A	G51916219A	ACVRL1	NM_001077401.2(ACVRL1):c.1232G>A:p.Arg411Gln	coding	Pathogenic/Likely_pathogenic
12	51916219	G	C	G51916219C	ACVRL1	NM_000020.2(ACVRL1):c.1232G>C:p.Arg411Pro	coding	Pathogenic
12	51916233	G	A	G51916233A	ACVRL1	NM_000020.3(ACVRL1):c.1246G>A:p.Gly416Ser	coding	Pathogenic
12	51916234	G	A	G51916234A	ACVRL1	NM_000020.2(ACVRL1):c.1246+1G>A	coding	Pathogenic
12	51916242	C	T	C51916242T	ACVRL1	NM_000020.3(ACVRL1):c.1246+9C>T	noncoding	Benign
12	51916252	C	T	C51916252T	ACVRL1	NM_000020.2(ACVRL1):c.1246+19C>T	noncoding	Benign
12	51919009	C	G	C51919009G	ACVRL1	NM_000020.3(ACVRL1):c.1271C>G:p.Pro424Arg	coding	Pathogenic
12	51919018	A	T	A51919018T	ACVRL1	NM_000020.2(ACVRL1):c.1280A>T:p.Asp427Val	coding	Pathogenic
12	51919059	G	A	G51919059A	ACVRL1	NM_000020.2(ACVRL1):c.1321G>A:p.Val441Met	coding	Pathogenic/Likely_pathogenic
12	51919074	C	T	C51919074T	ACVRL1	NM_000020.2(ACVRL1):c.1336C>T:p.Gln446Ter	coding	Pathogenic/Likely_pathogenic
12	51919083	C	T	C51919083T	ACVRL1	NM_000020.3(ACVRL1):c.1345C>T:p.Pro449Ser	coding	Pathogenic
12	51919093	C	T	C51919093T	ACVRL1	NM_000020.2(ACVRL1):c.1355C>T:p.Pro452Leu	coding	Pathogenic
12	51919116	G	A	G51919116A	ACVRL1	NM_000020.2(ACVRL1):c.1377+1G>A	coding	Pathogenic
12	51919117	T	G	T51919117G	ACVRL1	NM_000020.2(ACVRL1):c.1377+2T>G	noncoding	Pathogenic
12	51919160	T	C	T51919160C	ACVRL1	NM_000020.2(ACVRL1):c.1377+45T>C	noncoding	Benign/Likely_benign
12	51919180	A	G	A51919180G	ACVRL1	NM_000020.2(ACVRL1):c.1377+65A>G	noncoding	Benign
12	51919441	G	T	G51919441T	ACVRL1	NM_000020.3(ACVRL1):c.1377+326G>T	noncoding	Benign
12	51919751	C	T	C51919751T	ACVRL1	NM_000020.3(ACVRL1):c.1377+636C>T	noncoding	Benign
12	51920048	C	T	C51920048T	ACVRL1	NM_000020.3(ACVRL1):c.1378-711C>T	noncoding	Benign
12	51920354	A	G	A51920354G	ACVRL1	NM_000020.3(ACVRL1):c.1378-405A>G	noncoding	Benign
12	51920511	T	G	T51920511G	ACVRL1	NM_000020.2(ACVRL1):c.1378-248T>G	noncoding	Benign
12	51920542	A	G	A51920542G	ACVRL1	NM_000020.3(ACVRL1):c.1378-217A>G	noncoding	Benign
12	51920543	C	G	C51920543G	ACVRL1	NM_000020.2(ACVRL1):c.1378-216C>G	noncoding	Pathogenic
12	51920543	C	T	C51920543T	ACVRL1	NM_000020.3(ACVRL1):c.1378-216C>T	noncoding	Benign
12	51920604	T	G	T51920604G	ACVRL1	NM_000020.3(ACVRL1):c.1378-155T>G	noncoding	Benign
12	51920644	T	A	T51920644A	ACVRL1	NM_000020.3(ACVRL1):c.1378-115T>A	noncoding	Benign
12	51920729	T	C	T51920729C	ACVRL1	NM_000020.2(ACVRL1):c.1378-30T>C	noncoding	Benign
12	51920766	C	G	C51920766G	ACVRL1	NM_000020.2(ACVRL1):c.1385C>G:p.Ser462Ter	coding	Pathogenic
12	51920794	C	A	C51920794A	ACVRL1	NM_000020.2(ACVRL1):c.1413C>A:p.Cys471Ter	coding	Pathogenic
12	51920800	C	A	C51920800A	ACVRL1	NM_000020.3(ACVRL1):c.1419C>A:p.Tyr473Ter	coding	Pathogenic
12	51920814	C	A	C51920814A	ACVRL1	NM_000020.2(ACVRL1):c.1433C>A:p.Ala478Asp	coding	Pathogenic
12	51920816	C	T	C51920816T	ACVRL1	NM_000020.2(ACVRL1):c.1435C>T:p.Arg479Ter	coding	Pathogenic
12	51920817	G	A	G51920817A	ACVRL1	NM_000020.2(ACVRL1):c.1436G>A:p.Arg479Gln	coding	Pathogenic
12	51920817	G	C	G51920817C	ACVRL1	NM_000020.2(ACVRL1):c.1436G>C:p.Arg479Pro	coding	Pathogenic
12	51920831	C	G	C51920831G	ACVRL1	NM_001077401.2(ACVRL1):c.1450C>G:p.Arg484Gly	coding	Pathogenic/Likely_pathogenic
12	51920831	C	T	C51920831T	ACVRL1	NM_001077401.2(ACVRL1):c.1450C>T:p.Arg484Trp	coding	Pathogenic
12	51920832	G	A	G51920832A	ACVRL1	NM_001077401.2(ACVRL1):c.1451G>A:p.Arg484Gln	coding	Pathogenic
12	51920832	G	T	G51920832T	ACVRL1	NM_000020.3(ACVRL1):c.1451G>T:p.Arg484Leu	coding	Pathogenic
12	51920841	A	C	A51920841C	ACVRL1	NM_000020.2(ACVRL1):c.1460A>C:p.Lys487Thr	coding	Pathogenic
12	51920849	C	T	C51920849T	ACVRL1	NM_000020.2(ACVRL1):c.1468C>T:p.Gln490Ter	coding	Pathogenic
12	51920951	G	A	G51920951A	ACVRL1	NM_000020.2(ACVRL1):c.*58G>A	noncoding	Benign
12	51921316	C	T	C51921316T	ACVRL1	NM_000020.2(ACVRL1):c.*423C>T	noncoding	Benign
12	51921392	T	G	T51921392G	ACVRL1	NM_000020.2(ACVRL1):c.*499T>G	noncoding	Benign
12	51921453	T	C	T51921453C	ACVRL1	NM_000020.2(ACVRL1):c.*560T>C	noncoding	Benign
12	51921755	G	A	G51921755A	ACVRL1	NM_000020.2(ACVRL1):c.*862G>A	noncoding	Benign
12	51921762	C	T	C51921762T	ACVRL1	NM_000020.2(ACVRL1):c.*869C>T	noncoding	Benign
12	51921934	G	T	G51921934T	ACVRL1	NM_000020.2(ACVRL1):c.*1041G>T	noncoding	Benign
12	51922139	T	C	T51922139C	ACVRL1	NM_000020.2(ACVRL1):c.*1246T>C	noncoding	Benign
12	51922453	A	C	A51922453C	ACVRL1	NM_000020.2(ACVRL1):c.*1560A>C	noncoding	Benign
12	51922669	C	T	C51922669T	ACVRL1	NM_000020.2(ACVRL1):c.*1776C>T	noncoding	Benign
12	51922819	T	C	T51922819C	ACVRL1	NM_000020.2(ACVRL1):c.*1926T>C	noncoding	Benign
12	51923174	G	T	G51923174T	ACVRL1	NM_000020.2(ACVRL1):c.*2281G>T	noncoding	Benign
12	51923206	G	A	G51923206A	ACVRL1	NM_000020.2(ACVRL1):c.*2313G>A	noncoding	Benign
12	51923273	C	G	C51923273G	ACVRL1	NM_000020.2(ACVRL1):c.*2380C>G	noncoding	Benign
12	51923291	G	A	G51923291A	ACVRL1	NM_000020.2(ACVRL1):c.*2398G>A	noncoding	Benign
12	51923315	A	G	A51923315G	ACVRL1	NM_000020.2(ACVRL1):c.*2422A>G	noncoding	Benign
12	51994074	C	T	C51994074T	ACVR1B	NM_004302.5(ACVR1B):c.1482C>T:p.Leu494=	coding	Benign
12	52009214	C	T	C52009214T	TAMALIN	NM_181711.4(TAMALIN):c.271C>T:p.Leu91Phe	coding	Benign
12	52054400	C	T	C52054400T	NR4A1	NM_173157.3(NR4A1):c.72C>T:p.Asp24=	coding	Benign
12	52054448	C	T	C52054448T	NR4A1	NM_173157.3(NR4A1):c.120C>T:p.Pro40=	coding	Benign
12	52054916	C	T	C52054916T	NR4A1	NM_173157.3(NR4A1):c.588C>T:p.Thr196=	coding	Benign
12	52056023	C	T	C52056023T	NR4A1	NM_173157.3(NR4A1):c.877-7C>T	noncoding	Benign
12	52057151	G	A	G52057151A	NR4A1	NM_173157.3(NR4A1):c.1253G>A:p.Arg418His	coding	Benign
12	52173704	G	A	G52173704A	KRT80	NM_182507.3(KRT80):c.727C>T:p.Arg243Cys	coding	Benign
12	52173719	C	T	C52173719T	KRT80	NM_182507.3(KRT80):c.712G>A:p.Val238Ile	coding	Benign
12	52185458	G	A	G52185458A	KRT80	NM_182507.3(KRT80):c.430C>T:p.Arg144Cys	coding	Benign
12	52233347	C	A	C52233347A	KRT7	NM_005556.4(KRT7):c.51C>A:p.Phe17Leu	coding	Benign
12	52241562	G	A	G52241562A	KRT7	NM_005556.4(KRT7):c.784G>A:p.Ala262Thr	coding	Benign
12	52243059	G	A	G52243059A	KRT7	NM_005556.4(KRT7):c.906G>A:p.Arg302=	coding	Benign
12	52243090	C	T	C52243090T	KRT7	NM_005556.4(KRT7):c.937C>T:p.Arg313Trp	coding	Benign
12	52248625	C	T	C52248625T	KRT7	NM_005556.4(KRT7):c.1275C>T:p.Gly425=	coding	Benign
12	52248646	C	T	C52248646T	KRT7	NM_005556.4(KRT7):c.1296C>T:p.Leu432=	coding	Benign
12	52248741	G	A	G52248741A	KRT7	NM_005556.4(KRT7):c.1391G>A:p.Arg464His	coding	Benign
12	52287112	C	T	C52287112T	KRT81	NM_002281.4(KRT81):c.1237G>A:p.Glu413Lys	coding	Pathogenic
12	52287145	C	T	C52287145T	KRT81	NM_002281.4(KRT81):c.1204G>A:p.Glu402Lys	coding	Pathogenic
12	52288038	A	T	A52288038T	KRT81	NM_002281.4(KRT81):c.846T>A:p.Tyr282Ter	coding	Pathogenic
12	52302256	A	G	A52302256G	KRT86	NM_001320198.2(KRT86):c.340A>G:p.Asn114Asp	coding	Pathogenic
12	52302269	C	A	C52302269A	KRT86	NM_001320198.2(KRT86):c.353C>A:p.Ala118Glu	coding	Pathogenic
12	52305741	C	T	C52305741T	KRT86	NM_001320198.2(KRT86):c.979C>T:p.Arg327Cys	coding	Benign
12	52306086	T	C	T52306086C	KRT86	NM_001320198.2(KRT86):c.1053T>C:p.Ala351=	coding	Benign
12	52306135	T	C	T52306135C	KRT86	NM_001320198.2(KRT86):c.1102T>C:p.Leu368=	coding	Benign
12	52306237	G	A	G52306237A	KRT86	NM_001320198.2(KRT86):c.1204G>A:p.Glu402Lys	coding	Pathogenic
12	52306237	G	C	G52306237C	KRT86	NM_001320198.2(KRT86):c.1204G>C:p.Glu402Gln	coding	Pathogenic
12	52306270	G	A	G52306270A	KRT86	NM_001320198.2(KRT86):c.1237G>A:p.Glu413Lys	coding	Pathogenic
12	52306272	G	T	G52306272T	KRT86	NM_001320198.2(KRT86):c.1239G>T:p.Glu413Asp	coding	Pathogenic
12	52314457	G	A	G52314457A	KRT83	NM_002282.3(KRT83):c.*174C>T	noncoding	Benign
12	52314493	G	A	G52314493A	KRT83	NM_002282.3(KRT83):c.*138C>T	noncoding	Benign
12	52314608	C	A	C52314608A	KRT83	NM_002282.3(KRT83):c.*23G>T	noncoding	Benign
12	52314636	G	A	G52314636A	KRT83	NM_002282.3(KRT83):c.1477C>T:p.His493Tyr	coding	Benign
12	52314690	G	A	G52314690A	KRT83	NM_002282.3(KRT83):c.1423C>T:p.Pro475Ser	coding	Benign
12	52314701	C	T	C52314701T	KRT83	NM_002282.3(KRT83):c.1412G>A:p.Gly471Asp	coding	Benign
12	52314775	G	A	G52314775A	KRT83	NM_002282.3(KRT83):c.1338C>T:p.Cys446=	coding	Benign
12	52314781	A	G	A52314781G	KRT83	NM_002282.3(KRT83):c.1332T>C:p.Asp444=	coding	Benign
12	52314786	C	T	C52314786T	KRT83	NM_002282.3(KRT83):c.1327G>A:p.Gly443Arg	coding	Benign
12	52315338	C	G	C52315338G	KRT83	NM_002282.3(KRT83):c.1268G>C:p.Cys423Ser	coding	Benign
12	52315903	C	T	C52315903T	KRT83	NM_002282.3(KRT83):c.1252G>A:p.Glu418Lys	coding	Pathogenic
12	52316055	C	T	C52316055T	KRT83	NM_002282.3(KRT83):c.1100G>A:p.Ser367Asn	coding	Benign
12	52316071	C	T	C52316071T	KRT83	NM_002282.3(KRT83):c.1084G>A:p.Gly362Ser	coding	Benign
12	52316096	A	G	A52316096G	KRT83	NM_002282.3(KRT83):c.1059T>C:p.Ala353=	coding	Benign
12	52316099	T	C	T52316099C	KRT83	NM_002282.3(KRT83):c.1056A>G:p.Glu352=	coding	Benign
12	52316117	G	T	G52316117T	KRT83	NM_002282.3(KRT83):c.1042-4C>A	noncoding	Benign
12	52316462	T	C	T52316462C	KRT83	NM_002282.3(KRT83):c.1041+6A>G	noncoding	Benign
12	52316463	G	A	G52316463A	KRT83	NM_002282.3(KRT83):c.1041+5C>T	noncoding	Benign
12	52316492	G	A	G52316492A	KRT83	NM_002282.3(KRT83):c.1017C>T:p.Ala339=	coding	Benign
12	52316525	G	A	G52316525A	KRT83	NM_002282.3(KRT83):c.984C>T:p.Asn328=	coding	Benign
12	52316564	C	T	C52316564T	KRT83	NM_002282.3(KRT83):c.945G>A:p.Arg315=	coding	Benign
12	52316864	T	A	T52316864A	KRT83	NM_002282.3(KRT83):c.910A>T:p.Ser304Cys	coding	Benign
12	52316897	G	A	G52316897A	KRT83	NM_002282.3(KRT83):c.877C>T:p.Arg293Cys	coding	Benign
12	52316931	G	A	G52316931A	KRT83	NM_002282.3(KRT83):c.843C>T:p.Ala281=	coding	Benign
12	52316937	G	C	G52316937C	KRT83	NM_002282.3(KRT83):c.837C>G:p.Ile279Met	coding	Benign
12	52316984	C	T	C52316984T	KRT83	NM_002282.3(KRT83):c.790G>A:p.Val264Met	coding	Benign
12	52317006	T	C	T52317006C	KRT83	NM_002282.3(KRT83):c.768A>G:p.Gln256=	coding	Benign
12	52317014	T	C	T52317014C	KRT83	NM_002282.3(KRT83):c.760A>G:p.Ile254Val	coding	Benign
12	52317666	T	C	T52317666C	KRT83	NM_002282.3(KRT83):c.750+15A>G	noncoding	Benign
12	52317732	G	A	G52317732A	KRT83	NM_002282.3(KRT83):c.699C>T:p.Asn233=	coding	Benign
12	52317755	G	A	G52317755A	KRT83	NM_002282.3(KRT83):c.676C>T:p.Arg226Cys	coding	Benign
12	52317765	G	A	G52317765A	KRT83	NM_002282.3(KRT83):c.666C>T:p.Cys222=	coding	Benign
12	52317931	G	A	G52317931A	KRT83	NM_002282.3(KRT83):c.633C>T:p.Asn211=	coding	Benign
12	52317963	C	A	C52317963A	KRT83	NM_002282.3(KRT83):c.601G>T:p.Glu201Ter	coding	Benign
12	52319141	C	T	C52319141T	KRT83	NM_002282.3(KRT83):c.593+15G>A	noncoding	Benign
12	52319191	G	A	G52319191A	KRT83	NM_002282.3(KRT83):c.558C>T:p.Asn186=	coding	Benign
12	52319229	C	G	C52319229G	KRT83	NM_002282.3(KRT83):c.520G>C:p.Val174Leu	coding	Benign
12	52319252	G	C	G52319252C	KRT83	NM_002282.3(KRT83):c.497C>G:p.Thr166Ser	coding	Benign
12	52319269	A	G	A52319269G	KRT83	NM_002282.3(KRT83):c.480T>C:p.Phe160=	coding	Benign
12	52319297	C	T	C52319297T	KRT83	NM_002282.3(KRT83):c.452G>A:p.Cys151Tyr	coding	Benign
12	52319304	G	A	G52319304A	KRT83	NM_002282.3(KRT83):c.445C>T:p.Arg149Cys	coding	Benign
12	52319360	C	T	C52319360T	KRT83	NM_002282.3(KRT83):c.389G>A:p.Arg130His	coding	Benign
12	52320973	T	C	T52320973C	KRT83	NM_002282.3(KRT83):c.363A>G:p.Arg121=	coding	Benign
12	52321024	C	T	C52321024T	KRT83	NM_002282.3(KRT83):c.312G>A:p.Ala104=	coding	Benign
12	52321144	G	T	G52321144T	KRT83	NM_002282.3(KRT83):c.192C>A:p.Cys64Ter	coding	Benign
12	52321189	G	T	G52321189T	KRT83	NM_002282.3(KRT83):c.147C>A:p.Gly49=	coding	Benign
12	52321269	A	C	A52321269C	KRT83	NM_002282.3(KRT83):c.67T>G:p.Cys23Gly	coding	Benign
12	52367173	C	T	C52367173T	KRT85	NM_002283.4(KRT85):c.233G>A:p.Arg78His	coding	Benign
12	52367369	C	G	C52367369G	KRT85	NM_002283.4(KRT85):c.37G>C:p.Gly13Arg	coding	Benign
12	52428680	T	C	T52428680C	KRT75	NM_004693.3(KRT75):c.1099A>G:p.Ile367Val	coding	Benign
12	52447220	G	A	G52447220A	KRT6B	NM_005555.4(KRT6B):c.1665C>T:p.Ser555=	coding	Benign
12	52447337	G	A	G52447337A	KRT6B	NM_005555.4(KRT6B):c.1548C>T:p.Ser516=	coding	Benign
12	52447390	C	T	C52447390T	KRT6B	NM_005555.4(KRT6B):c.1495G>A:p.Gly499Ser	coding	Benign
12	52447391	G	A	G52447391A	KRT6B	NM_005555.4(KRT6B):c.1494C>T:p.Gly498=	coding	Benign
12	52447788	C	T	C52447788T	KRT6B	NM_005555.4(KRT6B):c.1414G>A:p.Glu472Lys	coding	Pathogenic
12	52447796	A	C	A52447796C	KRT6B	NM_005555.4(KRT6B):c.1406T>G:p.Leu469Arg	coding	Pathogenic
12	52447821	C	T	C52447821T	KRT6B	NM_005555.4(KRT6B):c.1381G>A:p.Glu461Lys	coding	Pathogenic
12	52449501	T	G	T52449501G	KRT6B	NM_005555.4(KRT6B):c.1045A>C:p.Arg349=	coding	Benign
12	52449640	A	G	A52449640G	KRT6B	NM_005555.4(KRT6B):c.913-7T>C	noncoding	Benign
12	52449851	A	G	A52449851G	KRT6B	NM_005555.4(KRT6B):c.819T>C:p.Asp273=	coding	Benign
12	52451747	C	T	C52451747T	KRT6B	NM_005555.4(KRT6B):c.332G>A:p.Gly111Asp	coding	Benign
12	52469233	G	A	G52469233A	KRT6C	NM_173086.5(KRT6C):c.1524C>T:p.Gly508=	coding	Benign
12	52469680	C	T	C52469680T	KRT6C	NM_173086.5(KRT6C):c.1414G>A:p.Glu472Lys	coding	Pathogenic
12	52469741	C	T	C52469741T	KRT6C	NM_173086.5(KRT6C):c.1353G>A:p.Leu451=	coding	Benign
12	52471164	G	T	G52471164T	KRT6C	NM_173086.5(KRT6C):c.1045C>A:p.Arg349=	coding	Benign
12	52471258	G	A	G52471258A	KRT6C	NM_173086.5(KRT6C):c.951C>T:p.Ser317=	coding	Benign
12	52471442	G	A	G52471442A	KRT6C	NM_173086.5(KRT6C):c.891C>T:p.Phe297=	coding	Benign
12	52487957	T	G	T52487957G	KRT6A	NM_005554.4(KRT6A):c.1460-2A>C	noncoding	Pathogenic
12	52488062	T	C	T52488062C	KRT6A	NM_005554.4(KRT6A):c.1459+7A>G	noncoding	Benign
12	52488338	C	T	C52488338T	KRT6A	NM_005554.4(KRT6A):c.1414G>A:p.Glu472Lys	coding	Pathogenic
12	52488346	A	C	A52488346C	KRT6A	NM_005554.4(KRT6A):c.1406T>G:p.Leu469Arg	coding	Pathogenic
12	52488346	A	G	A52488346G	KRT6A	NM_005554.4(KRT6A):c.1406T>C:p.Leu469Pro	coding	Pathogenic
12	52488359	A	G	A52488359G	KRT6A	NM_005554.4(KRT6A):c.1393T>C:p.Tyr465His	coding	Pathogenic
12	52488365	C	G	C52488365G	KRT6A	NM_005554.4(KRT6A):c.1387G>C:p.Ala463Pro	coding	Pathogenic
12	52488367	A	T	A52488367T	KRT6A	NM_005554.4(KRT6A):c.1385T>A:p.Ile462Asn	coding	Pathogenic/Likely_pathogenic
12	52488371	C	A	C52488371A	KRT6A	NM_005554.4(KRT6A):c.1381G>T:p.Glu461Ter	coding	Pathogenic
12	52488425	G	A	G52488425A	KRT6A	NM_005554.4(KRT6A):c.1327C>T:p.Arg443Trp	coding	Benign
12	52488508	C	T	C52488508T	KRT6A	NM_005554.4(KRT6A):c.1244G>A:p.Arg415His	coding	Benign
12	52490643	C	T	C52490643T	KRT6A	NM_005554.4(KRT6A):c.1003G>A:p.Ala335Thr	coding	Benign
12	52491112	C	T	C52491112T	KRT6A	NM_005554.4(KRT6A):c.816G>A:p.Lys272=	coding	Benign
12	52491649	G	T	G52491649T	KRT6A	NM_005554.4(KRT6A):c.628C>A:p.Leu210Met	coding	Benign
12	52491710	C	T	C52491710T	KRT6A	NM_005554.4(KRT6A):c.567G>A:p.Lys189=	coding	Benign
12	52492668	A	G	A52492668G	KRT6A	NM_005554.4(KRT6A):c.521T>C:p.Phe174Ser	coding	Pathogenic
12	52492669	A	C	A52492669C	KRT6A	NM_005554.4(KRT6A):c.520T>G:p.Phe174Val	coding	Pathogenic
12	52492676	G	T	G52492676T	KRT6A	NM_005554.4(KRT6A):c.513C>A:p.Asn171Lys	coding	Pathogenic
12	52492677	T	C	T52492677C	KRT6A	NM_005554.4(KRT6A):c.512A>G:p.Asn171Ser	coding	Pathogenic
12	52492678	T	A	T52492678A	KRT6A	NM_005554.4(KRT6A):c.511A>T:p.Asn171Tyr	coding	Pathogenic
12	52492678	T	C	T52492678C	KRT6A	NM_005554.4(KRT6A):c.511A>G:p.Asn171Asp	coding	Pathogenic
12	52492678	T	G	T52492678G	KRT6A	NM_005554.4(KRT6A):c.511A>C:p.Asn171His	coding	Pathogenic
12	52492681	G	A	G52492681A	KRT6A	NM_005554.4(KRT6A):c.508C>T:p.Leu170Phe	coding	Pathogenic
12	52492699	G	A	G52492699A	KRT6A	NM_005554.4(KRT6A):c.490C>T:p.Arg164Cys	coding	Pathogenic
12	52492702	C	T	C52492702T	KRT6A	NM_005554.4(KRT6A):c.487G>A:p.Glu163Lys	coding	Pathogenic
12	52492796	G	T	G52492796T	KRT6A	NM_005554.4(KRT6A):c.393C>A:p.Pro131=	coding	Benign
12	52514619	A	G	A52514619G	KRT5	NM_000424.4(KRT5):c.*323T>C	noncoding	Benign
12	52514679	A	G	A52514679G	KRT5	NM_000424.4(KRT5):c.*263T>C	noncoding	Benign
12	52514689	G	A	G52514689A	KRT5	NM_000424.4(KRT5):c.*253C>T	noncoding	Benign
12	52514757	C	T	C52514757T	KRT5	NM_000424.4(KRT5):c.*185G>A	noncoding	Benign
12	52515010	C	T	C52515010T	KRT5	NM_000424.4(KRT5):c.1705G>A:p.Gly569Arg	coding	Benign
12	52515079	G	T	G52515079T	KRT5	NM_000424.4(KRT5):c.1636C>A:p.Leu546Ile	coding	Benign/Likely_benign
12	52515088	C	T	C52515088T	KRT5	NM_000424.4(KRT5):c.1627G>A:p.Gly543Ser	coding	Benign
12	52515133	T	C	T52515133C	KRT5	NM_000424.4(KRT5):c.1582A>G:p.Ser528Gly	coding	Benign
12	52515160	C	T	C52515160T	KRT5	NM_000424.4(KRT5):c.1555G>A:p.Gly519Ser	coding	Benign
12	52515161	G	T	G52515161T	KRT5	NM_000424.4(KRT5):c.1554C>A:p.Gly518=	coding	Benign
12	52515179	G	A	G52515179A	KRT5	NM_000424.4(KRT5):c.1536C>T:p.Leu512=	coding	Benign
12	52515246	G	A	G52515246A	KRT5	NM_000424.4(KRT5):c.1475-6C>T	noncoding	Benign
12	52516647	C	A	C52516647A	KRT5	NM_000424.4(KRT5):c.1429G>T:p.Glu477Ter	coding	Pathogenic
12	52516647	C	T	C52516647T	KRT5	NM_000424.4(KRT5):c.1429G>A:p.Glu477Lys	coding	Pathogenic
12	52516652	T	C	T52516652C	KRT5	NM_000424.4(KRT5):c.1424A>G:p.Glu475Gly	coding	Pathogenic
12	52516662	T	A	T52516662A	KRT5	NM_000424.4(KRT5):c.1414A>T:p.Lys472Ter	coding	Pathogenic
12	52516676	A	G	A52516676G	KRT5	NM_000424.4(KRT5):c.1400T>C:p.Ile467Thr	coding	Pathogenic
12	52516688	A	G	A52516688G	KRT5	NM_000424.4(KRT5):c.1388T>C:p.Leu463Pro	coding	Pathogenic
12	52516693	C	T	C52516693T	KRT5	NM_000424.4(KRT5):c.1383G>A:p.Leu461=	coding	Benign
12	52516713	C	A	C52516713A	KRT5	NM_000424.4(KRT5):c.1363G>T:p.Glu455Ter	coding	Pathogenic
12	52516824	C	T	C52516824T	KRT5	NM_000424.4(KRT5):c.1252G>A:p.Glu418Lys	coding	Pathogenic
12	52516840	G	A	G52516840A	KRT5	NM_000424.4(KRT5):c.1236C>T:p.Asn412=	coding	Benign
12	52517131	G	A	G52517131A	KRT5	NM_000424.4(KRT5):c.1194C>T:p.Ala398=	coding	Benign
12	52517611	G	A	G52517611A	KRT5	NM_000424.4(KRT5):c.1071C>T:p.Ala357=	coding	Benign
12	52517617	T	G	T52517617G	KRT5	NM_000424.4(KRT5):c.1065A>C:p.Thr355=	coding	Benign
12	52517691	G	A	G52517691A	KRT5	NM_000424.4(KRT5):c.991C>T:p.Arg331Cys	coding	Pathogenic
12	52517695	G	T	G52517695T	KRT5	NM_000424.4(KRT5):c.987C>A:p.Asn329Lys	coding	Pathogenic
12	52517702	A	G	A52517702G	KRT5	NM_000424.4(KRT5):c.980T>C:p.Met327Thr	coding	Pathogenic
12	52518984	C	T	C52518984T	KRT5	NM_000424.4(KRT5):c.732G>A:p.Leu244=	coding	Benign
12	52519085	C	T	C52519085T	KRT5	NM_000424.4(KRT5):c.631G>A:p.Val211Met	coding	Benign/Likely_benign
12	52519086	A	G	A52519086G	KRT5	NM_000424.4(KRT5):c.630T>C:p.Thr210=	coding	Benign
12	52519122	G	T	G52519122T	KRT5	NM_000424.4(KRT5):c.594C>A:p.Thr198=	coding	Benign
12	52519125	G	T	G52519125T	KRT5	NM_000424.4(KRT5):c.591C>A:p.Asp197Glu	coding	Benign
12	52519137	G	C	G52519137C	KRT5	NM_000424.4(KRT5):c.579C>G:p.Asn193Lys	coding	Pathogenic
12	52519160	C	A	C52519160A	KRT5	NM_000424.4(KRT5):c.556G>T:p.Val186Leu	coding	Pathogenic
12	52519175	G	A	G52519175A	KRT5	NM_000424.4(KRT5):c.556-15C>T	noncoding	Benign
12	52519733	G	A	G52519733A	KRT5	NM_000424.4(KRT5):c.555+9C>T	noncoding	Benign
12	52519741	C	T	C52519741T	KRT5	NM_000424.4(KRT5):c.555+1G>A	noncoding	Pathogenic
12	52519756	A	G	A52519756G	KRT5	NM_000424.4(KRT5):c.541T>C:p.Ser181Pro	coding	Pathogenic
12	52519759	C	G	C52519759G	KRT5	NM_000424.4(KRT5):c.538G>C:p.Ala180Pro	coding	Pathogenic
12	52519774	G	A	G52519774A	KRT5	NM_000424.4(KRT5):c.523C>T:p.Leu175Phe	coding	Pathogenic
12	52519778	C	G	C52519778G	KRT5	NM_000424.4(KRT5):c.519G>C:p.Lys173Asn	coding	Pathogenic
12	52519789	C	T	C52519789T	KRT5	NM_000424.4(KRT5):c.508G>A:p.Glu170Lys	coding	Pathogenic
12	52519795	C	T	C52519795T	KRT5	NM_000424.4(KRT5):c.502G>A:p.Glu168Lys	coding	Pathogenic
12	52519802	C	G	C52519802G	KRT5	NM_000424.4(KRT5):c.495G>C:p.Arg165Ser	coding	Pathogenic
12	52519815	A	C	A52519815C	KRT5	NM_000424.4(KRT5):c.482T>G:p.Ile161Ser	coding	Pathogenic
12	52519825	C	A	C52519825A	KRT5	NM_000424.4(KRT5):c.472G>T:p.Asp158Tyr	coding	Pathogenic
12	52519826	G	A	G52519826A	KRT5	NM_000424.4(KRT5):c.471C>T:p.Ile157=	coding	Benign
12	52519884	C	T	C52519884T	KRT5	NM_000424.4(KRT5):c.413G>A:p.Gly138Glu	coding	Benign
12	52519946	G	A	G52519946A	KRT5	NM_000424.4(KRT5):c.351C>T:p.Leu117=	coding	Benign
12	52520017	C	T	C52520017T	KRT5	NM_000424.4(KRT5):c.280G>A:p.Gly94Ser	coding	Benign
12	52520038	A	C	A52520038C	KRT5	NM_000424.4(KRT5):c.259T>G:p.Phe87Val	coding	Benign
12	52520110	G	A	G52520110A	KRT5	NM_000424.4(KRT5):c.187C>T:p.Arg63Trp	coding	Benign
12	52520141	C	T	C52520141T	KRT5	NM_000424.4(KRT5):c.156G>A:p.Ala52=	coding	Benign
12	52520155	T	G	T52520155G	KRT5	NM_000424.4(KRT5):c.142A>C:p.Arg48=	coding	Benign
12	52520187	C	T	C52520187T	KRT5	NM_000424.4(KRT5):c.110G>A:p.Arg37Gln	coding	Benign
12	52520223	G	A	G52520223A	KRT5	NM_000424.4(KRT5):c.74C>T:p.Pro25Leu	coding	Pathogenic
12	52520240	G	A	G52520240A	KRT5	NM_000424.4(KRT5):c.57C>T:p.Thr19=	coding	Benign
12	52520258	G	A	G52520258A	KRT5	NM_000424.4(KRT5):c.39C>T:p.Gly13=	coding	Benign/Likely_benign
12	52520267	C	T	C52520267T	KRT5	NM_000424.4(KRT5):c.30G>A:p.Arg10=	coding	Benign/Likely_benign
12	52520277	A	G	A52520277G	KRT5	NM_000424.4(KRT5):c.20T>C:p.Val7Ala	coding	Pathogenic
12	52520283	G	T	G52520283T	KRT5	NM_000424.4(KRT5):c.14C>A:p.Ser5Ter	coding	Pathogenic
12	52520296	T	C	T52520296C	KRT5	NM_000424.4(KRT5):c.1A>G:p.Met1Val	coding	Pathogenic
12	52520369	A	G	A52520369G	KRT5	NM_000424.4(KRT5):c.-73T>C	noncoding	Benign
12	52520427	T	C	T52520427C	KRT5	NM_000424.3(KRT5):c.-131A>G	noncoding	Benign
12	52544537	G	A	G52544537A	KRT71	NM_033448.3(KRT71):c.1567C>T:p.Arg523Trp	coding	Benign
12	52544728	G	C	G52544728C	KRT71	NM_033448.3(KRT71):c.1376C>G:p.Thr459Ser	coding	Benign
12	52547898	T	A	T52547898A	KRT71	NM_033448.3(KRT71):c.1063A>T:p.Ile355Phe	coding	Benign
12	52548217	G	A	G52548217A	KRT71	NM_033448.3(KRT71):c.913C>T:p.Arg305Cys	coding	Benign
12	52550070	C	T	C52550070T	KRT71	NM_033448.3(KRT71):c.615G>A:p.Glu205=	coding	Benign
12	52550169	G	A	G52550169A	KRT71	NM_033448.3(KRT71):c.516C>T:p.Asn172=	coding	Benign
12	52552656	A	C	A52552656C	KRT71	NM_033448.3(KRT71):c.422T>G:p.Phe141Cys	coding	Pathogenic
12	52552810	C	T	C52552810T	KRT71	NM_033448.3(KRT71):c.268G>A:p.Gly90Arg	coding	Benign
12	52567044	C	A	C52567044A	KRT74	NM_175053.4(KRT74):c.1515G>T:p.Ala505=	coding	Benign
12	52567115	C	T	C52567115T	KRT74	NM_175053.4(KRT74):c.1444G>A:p.Asp482Asn	coding	Pathogenic
12	52567133	G	A	G52567133A	KRT74	NM_175053.4(KRT74):c.1426C>T:p.Pro476Ser	coding	Benign
12	52567169	C	T	C52567169T	KRT74	NM_175053.4(KRT74):c.1391-1G>A	coding	Pathogenic
12	52568254	C	T	C52568254T	KRT74	NM_175053.4(KRT74):c.1270G>A:p.Glu424Lys	coding	Benign
12	52568267	C	T	C52568267T	KRT74	NM_175053.4(KRT74):c.1257G>A:p.Ala419=	coding	Benign
12	52568349	C	T	C52568349T	KRT74	NM_175053.4(KRT74):c.1175G>A:p.Arg392Gln	coding	Benign
12	52568373	G	A	G52568373A	KRT74	NM_175053.4(KRT74):c.1151C>T:p.Thr384Met	coding	Benign
12	52569877	G	A	G52569877A	KRT74	NM_175053.4(KRT74):c.1116C>T:p.Ile372=	coding	Benign
12	52570681	C	T	C52570681T	KRT74	NM_175053.4(KRT74):c.996G>A:p.Leu332=	coding	Benign
12	52570827	C	T	C52570827T	KRT74	NM_175053.4(KRT74):c.850G>A:p.Ala284Thr	coding	Benign
12	52571381	A	G	A52571381G	KRT74	NM_175053.4(KRT74):c.821T>C:p.Phe274Ser	coding	Benign
12	52571456	T	C	T52571456C	KRT74	NM_175053.4(KRT74):c.748-2A>G	noncoding	Benign
12	52573334	G	C	G52573334C	KRT74	NM_175053.4(KRT74):c.444C>G:p.Asn148Lys	coding	Pathogenic
12	52573367	G	A	G52573367A	KRT74	NM_175053.4(KRT74):c.411C>T:p.Arg137=	coding	Benign
12	52573403	G	A	G52573403A	KRT74	NM_175053.4(KRT74):c.375C>T:p.Leu125=	coding	Benign
12	52573480	C	T	C52573480T	KRT74	NM_175053.4(KRT74):c.298G>A:p.Gly100Arg	coding	Benign
12	52573525	G	A	G52573525A	KRT74	NM_175053.4(KRT74):c.253C>T:p.Arg85Trp	coding	Benign
12	52573584	C	G	C52573584G	KRT74	NM_175053.4(KRT74):c.194G>C:p.Gly65Ala	coding	Benign
12	52644572	G	A	G52644572A	KRT2	NM_000423.3(KRT2):c.*447C>T	noncoding	Benign
12	52644608	G	A	G52644608A	KRT2	NM_000423.3(KRT2):c.*411C>T	noncoding	Benign
12	52644665	G	A	G52644665A	KRT2	NM_000423.3(KRT2):c.*354C>T	noncoding	Benign
12	52644684	T	C	T52644684C	KRT2	NM_000423.3(KRT2):c.*335A>G	noncoding	Benign
12	52644719	A	G	A52644719G	KRT2	NM_000423.3(KRT2):c.*300T>C	noncoding	Benign
12	52644740	A	G	A52644740G	KRT2	NM_000423.3(KRT2):c.*279T>C	noncoding	Benign
12	52644804	G	A	G52644804A	KRT2	NM_000423.3(KRT2):c.*215C>T	noncoding	Benign
12	52644977	A	G	A52644977G	KRT2	NM_000423.3(KRT2):c.*42T>C	noncoding	Benign
12	52645240	C	T	C52645240T	KRT2	NM_000423.3(KRT2):c.1699G>A:p.Gly567Ser	coding	Benign
12	52645241	G	A	G52645241A	KRT2	NM_000423.3(KRT2):c.1698C>T:p.Gly566=	coding	Benign
12	52645289	G	A	G52645289A	KRT2	NM_000423.3(KRT2):c.1650C>T:p.Gly550=	coding	Benign
12	52645389	G	C	G52645389C	KRT2	NM_000423.3(KRT2):c.1550C>G:p.Ala517Gly	coding	Benign
12	52645539	A	G	A52645539G	KRT2	NM_000423.3(KRT2):c.1500T>C:p.Thr500=	coding	Benign
12	52645561	C	A	C52645561A	KRT2	NM_000423.3(KRT2):c.1478G>T:p.Gly493Val	coding	Benign
12	52646748	C	A	C52646748A	KRT2	NM_000423.3(KRT2):c.1461G>T:p.Glu487Asp	coding	Pathogenic
12	52646750	C	T	C52646750T	KRT2	NM_000423.3(KRT2):c.1459G>A:p.Glu487Lys	coding	Pathogenic
12	52646774	T	G	T52646774G	KRT2	NM_000423.3(KRT2):c.1435A>C:p.Thr479Pro	coding	Pathogenic
12	52646783	C	T	C52646783T	KRT2	NM_000423.3(KRT2):c.1426G>A:p.Glu476Lys	coding	Pathogenic
12	52646920	C	T	C52646920T	KRT2	NM_000423.3(KRT2):c.1289G>A:p.Arg430His	coding	Benign
12	52646928	G	A	G52646928A	KRT2	NM_000423.3(KRT2):c.1281C>T:p.Ala427=	coding	Benign
12	52646937	G	A	G52646937A	KRT2	NM_000423.3(KRT2):c.1272C>T:p.Ile424=	coding	Benign
12	52646964	T	C	T52646964C	KRT2	NM_000423.3(KRT2):c.1249-4A>G	noncoding	Benign
12	52646967	C	A	C52646967A	KRT2	NM_000423.3(KRT2):c.1249-7G>T	noncoding	Benign
12	52647775	G	A	G52647775A	KRT2	NM_000423.3(KRT2):c.1203C>T:p.Arg401=	coding	Benign
12	52647831	C	T	C52647831T	KRT2	NM_000423.3(KRT2):c.1147G>A:p.Gly383Arg	coding	Benign
12	52649024	T	C	T52649024C	KRT2	NM_000423.3(KRT2):c.940A>G:p.Lys314Glu	coding	Benign
12	52649908	G	C	G52649908C	KRT2	NM_000423.3(KRT2):c.861+6C>G	noncoding	Benign
12	52649952	G	C	G52649952C	KRT2	NM_000423.3(KRT2):c.823C>G:p.Arg275Gly	coding	Benign
12	52650372	T	C	T52650372C	KRT2	NM_000423.3(KRT2):c.767A>G:p.Asn256Ser	coding	Benign
12	52650483	C	T	C52650483T	KRT2	NM_000423.3(KRT2):c.656G>A:p.Gly219Asp	coding	Benign
12	52650550	G	T	G52650550T	KRT2	NM_000423.3(KRT2):c.589C>A:p.Arg197=	coding	Benign
12	52651585	G	T	G52651585T	KRT2	NM_000423.3(KRT2):c.558C>A:p.Asn186Lys	coding	Pathogenic
12	52651587	T	A	T52651587A	KRT2	NM_000423.3(KRT2):c.556A>T:p.Asn186Tyr	coding	Pathogenic
12	52651587	T	C	T52651587C	KRT2	NM_000423.3(KRT2):c.556A>G:p.Asn186Asp	coding	Pathogenic
12	52651601	T	G	T52651601G	KRT2	NM_000423.3(KRT2):c.542A>C:p.Gln181Pro	coding	Pathogenic
12	52651651	G	A	G52651651A	KRT2	NM_000423.3(KRT2):c.492C>T:p.Asn164=	coding	Benign
12	52651669	G	A	G52651669A	KRT2	NM_000423.3(KRT2):c.474C>T:p.Ser158=	coding	Benign
12	52651736	C	T	C52651736T	KRT2	NM_000423.3(KRT2):c.407G>A:p.Gly136Glu	coding	Benign
12	52651795	G	A	G52651795A	KRT2	NM_000423.3(KRT2):c.348C>T:p.Gly116=	coding	Benign
12	52651803	C	T	C52651803T	KRT2	NM_000423.3(KRT2):c.340G>A:p.Gly114Ser	coding	Benign
12	52651804	G	A	G52651804A	KRT2	NM_000423.3(KRT2):c.339C>T:p.Phe113=	coding	Benign
12	52651826	C	T	C52651826T	KRT2	NM_000423.3(KRT2):c.317G>A:p.Ser106Asn	coding	Benign
12	52651842	T	C	T52651842C	KRT2	NM_000423.3(KRT2):c.301A>G:p.Ser101Gly	coding	Benign
12	52651975	G	A	G52651975A	KRT2	NM_000423.3(KRT2):c.168C>T:p.Gly56=	coding	Benign
12	52651993	G	A	G52651993A	KRT2	NM_000423.3(KRT2):c.150C>T:p.Gly50=	coding	Benign
12	52652010	G	A	G52652010A	KRT2	NM_000423.3(KRT2):c.133C>T:p.Arg45Cys	coding	Benign
12	52652043	G	A	G52652043A	KRT2	NM_000423.3(KRT2):c.100C>T:p.Arg34Trp	coding	Benign
12	52652085	G	A	G52652085A	KRT2	NM_000423.3(KRT2):c.58C>T:p.Arg20Trp	coding	Benign
12	52674849	G	A	G52674849A	KRT1	NM_006121.4(KRT1):c.*344C>T	noncoding	Benign
12	52675098	C	T	C52675098T	KRT1	NM_006121.4(KRT1):c.*95G>A	noncoding	Benign
12	52675102	A	G	A52675102G	KRT1	NM_006121.4(KRT1):c.*91T>C	noncoding	Benign
12	52675216	T	C	T52675216C	KRT1	NM_006121.4(KRT1):c.1912A>G:p.Thr638Ala	coding	Benign/Likely_benign
12	52675230	T	C	T52675230C	KRT1	NM_006121.4(KRT1):c.1898A>G:p.Lys633Arg	coding	Benign
12	52675451	G	A	G52675451A	KRT1	NM_006121.4(KRT1):c.1677C>T:p.Tyr559=	coding	Benign
12	52675459	T	C	T52675459C	KRT1	NM_006121.4(KRT1):c.1669A>G:p.Ser557Gly	coding	Benign
12	52675601	G	A	G52675601A	KRT1	NM_006121.4(KRT1):c.1527C>T:p.His509=	coding	Benign/Likely_benign
12	52675628	A	G	A52675628G	KRT1	NM_006121.4(KRT1):c.1511-11T>C	noncoding	Benign/Likely_benign
12	52675714	A	G	A52675714G	KRT1	NM_006121.4(KRT1):c.1506T>C:p.Ser502=	coding	Benign
12	52675738	A	G	A52675738G	KRT1	NM_006121.4(KRT1):c.1482T>C:p.Ser494=	coding	Benign/Likely_benign
12	52676305	T	C	T52676305C	KRT1	NM_006121.4(KRT1):c.1445A>G:p.Tyr482Cys	coding	Pathogenic
12	52676314	A	G	A52676314G	KRT1	NM_006121.4(KRT1):c.1436T>C:p.Ile479Thr	coding	Pathogenic
12	52676315	T	A	T52676315A	KRT1	NM_006121.4(KRT1):c.1435A>T:p.Ile479Phe	coding	Pathogenic
12	52676316	C	G	C52676316G	KRT1	NM_006121.4(KRT1):c.1434G>C:p.Glu478Asp	coding	Pathogenic
12	52676326	A	G	A52676326G	KRT1	NM_006121.4(KRT1):c.1424T>C:p.Leu475Pro	coding	Pathogenic
12	52676361	G	A	G52676361A	KRT1	NM_006121.4(KRT1):c.1389C>T:p.Arg463=	coding	Benign
12	52676390	C	A	C52676390A	KRT1	NM_006121.4(KRT1):c.1360G>T:p.Ala454Ser	coding	Benign
12	52676456	G	A	G52676456A	KRT1	NM_006121.4(KRT1):c.1294C>T:p.Arg432Cys	coding	Benign
12	52677337	G	A	G52677337A	KRT1	NM_006121.4(KRT1):c.1107C>T:p.Ala369=	coding	Benign/Likely_benign
12	52677370	G	A	G52677370A	KRT1	NM_006121.4(KRT1):c.1074C>T:p.Tyr358=	coding	Benign/Likely_benign
12	52677409	G	A	G52677409A	KRT1	NM_006121.4(KRT1):c.1035C>T:p.Leu345=	coding	Benign
12	52677413	C	T	C52677413T	KRT1	NM_006121.4(KRT1):c.1031G>A:p.Ser344Asn	coding	Benign
12	52677682	C	G	C52677682G	KRT1	NM_006121.4(KRT1):c.931G>C:p.Glu311Gln	coding	Pathogenic
12	52678586	C	T	C52678586T	KRT1	NM_006121.4(KRT1):c.762G>A:p.Ser254=	coding	Benign
12	52678607	A	G	A52678607G	KRT1	NM_006121.4(KRT1):c.741T>C:p.Ser247=	coding	Benign
12	52678650	G	A	G52678650A	KRT1	NM_006121.4(KRT1):c.698C>T:p.Ser233Leu	coding	Pathogenic
12	52678725	A	G	A52678725G	KRT1	NM_006121.4(KRT1):c.623T>C:p.Leu208Pro	coding	Pathogenic
12	52678764	C	T	C52678764T	KRT1	NM_006121.4(KRT1):c.592-8G>A	noncoding	Benign
12	52679757	C	A	C52679757A	KRT1	NM_006121.4(KRT1):c.591+1G>T	noncoding	Pathogenic
12	52679757	C	G	C52679757G	KRT1	NM_006121.4(KRT1):c.591+1G>C	noncoding	Pathogenic
12	52679785	G	T	G52679785T	KRT1	NM_006121.4(KRT1):c.564C>A:p.Asn188Lys	coding	Pathogenic
12	52679790	G	A	G52679790A	KRT1	NM_006121.4(KRT1):c.559C>T:p.Leu187Phe	coding	Pathogenic
12	52679867	A	G	A52679867G	KRT1	NM_006121.4(KRT1):c.482T>C:p.Leu161Pro	coding	Pathogenic
12	52679885	A	T	A52679885T	KRT1	NM_006121.4(KRT1):c.464T>A:p.Val155Asp	coding	Pathogenic
12	52680093	G	T	G52680093T	KRT1	NM_006121.4(KRT1):c.256C>A:p.Arg86Ser	coding	Benign
12	52680128	T	A	T52680128A	KRT1	NM_006121.4(KRT1):c.221A>T:p.Lys74Ile	coding	Pathogenic
12	52680236	C	T	C52680236T	KRT1	NM_006121.4(KRT1):c.113G>A:p.Arg38His	coding	Benign/Likely_benign
12	52680274	G	A	G52680274A	KRT1	NM_006121.4(KRT1):c.75C>T:p.Ile25=	coding	Benign
12	52680304	C	T	C52680304T	KRT1	NM_006121.4(KRT1):c.45G>A:p.Gly15=	coding	Benign/Likely_benign
12	52680369	G	A	G52680369A	KRT1	NM_006121.4(KRT1):c.-21C>T	noncoding	Benign
12	52790098	C	T	C52790098T	KRT3	NM_057088.3(KRT3):c.1831G>A:p.Gly611Ser	coding	Benign
12	52791200	G	A	G52791200A	KRT3	NM_057088.3(KRT3):c.1535+6C>T	noncoding	Benign
12	52791216	C	T	C52791216T	KRT3	NM_057088.3(KRT3):c.1525G>A:p.Glu509Lys	coding	Pathogenic
12	52791233	C	G	C52791233G	KRT3	NM_057088.3(KRT3):c.1508G>C:p.Arg503Pro	coding	Pathogenic
12	52791248	T	A	T52791248A	KRT3	NM_057088.3(KRT3):c.1493A>T:p.Glu498Val	coding	Pathogenic
12	52792738	G	A	G52792738A	KRT3	NM_057088.3(KRT3):c.996C>T:p.Ile332=	coding	Benign
12	52792748	A	G	A52792748G	KRT3	NM_057088.3(KRT3):c.986T>C:p.Ile329Thr	coding	Benign
12	52794271	G	C	G52794271C	KRT3	NM_057088.3(KRT3):c.706C>G:p.Gln236Glu	coding	Benign
12	52795620	A	T	A52795620T	KRT3	NM_057088.3(KRT3):c.423T>A:p.Gly141=	coding	Benign
12	52795728	A	G	A52795728G	KRT3	NM_057088.3(KRT3):c.315T>C:p.Phe105=	coding	Benign
12	52795793	G	A	G52795793A	KRT3	NM_057088.3(KRT3):c.250C>T:p.Arg84Trp	coding	Benign
12	52806800	T	C	T52806800C	KRT4	NM_002272.4(KRT4):c.*269A>G	noncoding	Benign
12	52806802	C	T	C52806802T	KRT4	NM_002272.4(KRT4):c.*267G>A	noncoding	Benign
12	52806936	G	A	G52806936A	KRT4	NM_002272.4(KRT4):c.*133C>T	noncoding	Benign
12	52806988	A	T	A52806988T	KRT4	NM_002272.4(KRT4):c.*81T>A	noncoding	Benign
12	52807001	G	A	G52807001A	KRT4	NM_002272.4(KRT4):c.*68C>T	noncoding	Benign
12	52807039	A	T	A52807039T	KRT4	NM_002272.4(KRT4):c.*30T>A	noncoding	Benign
12	52807120	G	T	G52807120T	KRT4	NM_002272.4(KRT4):c.1512C>A:p.Gly504=	coding	Benign
12	52807137	C	G	C52807137G	KRT4	NM_002272.4(KRT4):c.1495G>C:p.Gly499Arg	coding	Benign
12	52807139	A	G	A52807139G	KRT4	NM_002272.4(KRT4):c.1493T>C:p.Phe498Ser	coding	Benign
12	52807213	G	A	G52807213A	KRT4	NM_002272.4(KRT4):c.1419C>T:p.Ser473=	coding	Benign
12	52807344	G	A	G52807344A	KRT4	NM_002272.4(KRT4):c.1381+15C>T	noncoding	Benign
12	52807629	T	C	T52807629C	KRT4	NM_002272.4(KRT4):c.1346+15A>G	noncoding	Benign
12	52807672	G	A	G52807672A	KRT4	NM_002272.4(KRT4):c.1318C>T:p.Arg440Cys	coding	Benign/Likely_benign
12	52807687	C	T	C52807687T	KRT4	NM_002272.4(KRT4):c.1303G>A:p.Glu435Lys	coding	Pathogenic
12	52807731	C	T	C52807731T	KRT4	NM_002272.4(KRT4):c.1259G>A:p.Arg420His	coding	Benign
12	52807732	G	A	G52807732A	KRT4	NM_002272.4(KRT4):c.1258C>T:p.Arg420Cys	coding	Benign
12	52807787	G	A	G52807787A	KRT4	NM_002272.4(KRT4):c.1203C>T:p.Arg401=	coding	Benign
12	52808339	C	T	C52808339T	KRT4	NM_002272.4(KRT4):c.1080G>A:p.Arg360=	coding	Benign
12	52808399	C	G	C52808399G	KRT4	NM_002272.4(KRT4):c.1020G>C:p.Ser340=	coding	Benign
12	52808702	G	A	G52808702A	KRT4	NM_002272.4(KRT4):c.983C>T:p.Ala328Val	coding	Benign
12	52808812	G	A	G52808812A	KRT4	NM_002272.4(KRT4):c.873C>T:p.Ser291=	coding	Benign/Likely_benign
12	52808815	C	T	C52808815T	KRT4	NM_002272.4(KRT4):c.870G>A:p.Thr290=	coding	Benign
12	52808854	C	A	C52808854A	KRT4	NM_002272.4(KRT4):c.835-4G>T	noncoding	Benign
12	52809451	C	T	C52809451T	KRT4	NM_002272.4(KRT4):c.766G>A:p.Val256Met	coding	Benign
12	52810819	G	A	G52810819A	KRT4	NM_002272.4(KRT4):c.678-3C>T	noncoding	Benign
12	52810830	C	T	C52810830T	KRT4	NM_002272.4(KRT4):c.678-14G>A	noncoding	Benign
12	52811817	C	T	C52811817T	KRT4	NM_002272.4(KRT4):c.623G>A:p.Arg208His	coding	Benign
12	52811882	G	C	G52811882C	KRT4	NM_002272.4(KRT4):c.558C>G:p.Pro186=	coding	Benign
12	52811892	T	C	T52811892C	KRT4	NM_002272.4(KRT4):c.548A>G:p.Asn183Ser	coding	Benign
12	52811965	C	T	C52811965T	KRT4	NM_002272.4(KRT4):c.475G>A:p.Glu159Lys	coding	Benign
12	52811973	T	C	T52811973C	KRT4	NM_002272.4(KRT4):c.467A>G:p.Gln156Arg	coding	Benign
12	52813603	G	A	G52813603A	KRT4	NM_002272.4(KRT4):c.456C>T:p.Ile152=	coding	Benign
12	52813655	G	A	G52813655A	KRT4	NM_002272.4(KRT4):c.404C>T:p.Thr135Met	coding	Benign
12	52813698	G	T	G52813698T	KRT4	NM_002272.4(KRT4):c.361C>A:p.Pro121Thr	coding	Benign
12	52813753	G	A	G52813753A	KRT4	NM_002272.4(KRT4):c.306C>T:p.Pro102=	coding	Benign/Likely_benign
12	52813771	C	T	C52813771T	KRT4	NM_002272.4(KRT4):c.288G>A:p.Lys96=	coding	Benign
12	52813792	A	G	A52813792G	KRT4	NM_002272.4(KRT4):c.267T>C:p.Phe89=	coding	Benign
12	52813798	A	T	A52813798T	KRT4	NM_002272.4(KRT4):c.261T>A:p.Gly87=	coding	Benign
12	52813835	C	T	C52813835T	KRT4	NM_002272.4(KRT4):c.224G>A:p.Gly75Glu	coding	Benign
12	52813844	G	A	G52813844A	KRT4	NM_002272.4(KRT4):c.215C>T:p.Ala72Val	coding	Benign
12	52813937	C	T	C52813937T	KRT4	NM_002272.4(KRT4):c.122G>A:p.Arg41Gln	coding	Benign
12	52814028	C	T	C52814028T	KRT4	NM_002272.4(KRT4):c.31G>A:p.Gly11Arg	coding	Benign
12	52814109	C	T	C52814109T	KRT4	NM_002272.4(KRT4):c.-51G>A	noncoding	Benign
12	52839904	G	A	G52839904A	KRT78	NM_173352.4(KRT78):c.1128C>T:p.Asp376=	coding	Benign
12	52839922	G	A	G52839922A	KRT78	NM_173352.4(KRT78):c.1110C>T:p.Asp370=	coding	Benign
12	52839944	C	T	C52839944T	KRT78	NM_173352.4(KRT78):c.1088G>A:p.Arg363His	coding	Benign
12	52846282	C	G	C52846282G	KRT78	NM_173352.4(KRT78):c.671G>C:p.Gly224Ala	coding	Benign
12	52848605	G	A	G52848605A	KRT78	NM_173352.4(KRT78):c.326C>T:p.Thr109Met	coding	Benign
12	52848691	C	T	C52848691T	KRT78	NM_173352.4(KRT78):c.240G>A:p.Pro80=	coding	Benign
12	52848911	C	T	C52848911T	KRT78	NM_173352.4(KRT78):c.20G>A:p.Arg7Gln	coding	Benign
12	52897442	C	T	C52897442T	KRT8	NM_002273.4(KRT8):c.1438G>A:p.Val480Ile	coding	Benign
12	52897580	C	T	C52897580T	KRT8	NM_002273.4(KRT8):c.1300G>A:p.Gly434Ser	coding	Benign
12	52898452	G	A	G52898452A	KRT8	NM_002273.4(KRT8):c.1261+9C>T	noncoding	Benign
12	52898882	G	A	G52898882A	KRT8	NM_002273.4(KRT8):c.999C>T:p.Ala333=	coding	Benign
12	52904795	T	C	T52904795C	KRT8	NM_002273.4(KRT8):c.187A>G:p.Ile63Val	coding	Benign/Likely_benign
12	53051920	A	G	A53051920G	TNS2	NM_170754.4(TNS2):c.141A>G:p.Ala47=	coding	Benign
12	53054330	G	A	G53054330A	TNS2	NM_170754.4(TNS2):c.411G>A:p.Thr137=	coding	Benign
12	53058093	C	T	C53058093T	TNS2	NM_170754.4(TNS2):c.1086C>T:p.Gly362=	coding	Benign
12	53060052	G	A	G53060052A	TNS2	NM_170754.4(TNS2):c.2411G>A:p.Arg804His	coding	Benign
12	53060424	C	G	C53060424G	TNS2	NM_170754.4(TNS2):c.2637C>G:p.Ser879=	coding	Benign
12	53063801	C	T	C53063801T	TNS2	NM_170754.4(TNS2):c.4149C>T:p.Leu1383=	coding	Benign
12	53100830	T	C	T53100830C	IGFBP6	NM_002178.3(IGFBP6):c.453T>C:p.Asn151=	coding	Benign
12	53100836	G	A	G53100836A	IGFBP6	NM_002178.3(IGFBP6):c.459G>A:p.Ala153=	coding	Benign
12	53102059	G	C	G53102059C	IGFBP6	NM_002178.3(IGFBP6):c.615G>C:p.Gln205His	coding	Benign
12	53102094	G	A	G53102094A	IGFBP6	NM_002178.3(IGFBP6):c.650G>A:p.Arg217Gln	coding	Benign
12	53105169	C	T	C53105169T	SOAT2	NM_003578.4(SOAT2):c.201C>T:p.Ala67=	coding	Benign
12	53121371	G	C	G53121371C	SOAT2	NM_003578.4(SOAT2):c.1206G>C:p.Leu402=	coding	Benign
12	53123094	G	A	G53123094A	SOAT2	NM_003578.4(SOAT2):c.1250G>A:p.Arg417Gln	coding	Benign
12	53170473	C	T	C53170473T	CSAD	NM_001244705.2(CSAD):c.597G>A:p.Ala199=	coding	Benign
12	53172381	G	A	G53172381A	CSAD	NM_001244705.2(CSAD):c.309C>T:p.Ala103=	coding	Benign
12	53172625	C	T	C53172625T	CSAD	NM_001244705.2(CSAD):c.150G>A:p.Glu50=	coding	Benign
12	53192471	G	A	G53192471A	ITGB7	NM_000889.3(ITGB7):c.2014C>T:p.His672Tyr	coding	Benign
12	53192490	G	A	G53192490A	ITGB7	NM_000889.3(ITGB7):c.1995C>T:p.Asn665=	coding	Benign
12	53192735	T	C	T53192735C	ITGB7	NM_000889.3(ITGB7):c.1902A>G:p.Leu634=	coding	Benign
12	53192752	C	T	C53192752T	ITGB7	NM_000889.3(ITGB7):c.1885G>A:p.Gly629Ser	coding	Benign
12	53193802	A	G	A53193802G	ITGB7	NM_000889.3(ITGB7):c.1408T>C:p.Leu470=	coding	Benign
12	53193812	C	G	C53193812G	ITGB7	NM_000889.3(ITGB7):c.1398G>C:p.Leu466=	coding	Benign
12	53276706	G	A	G53276706A	ESPL1	NM_012291.5(ESPL1):c.1787G>A:p.Arg596Gln	coding	Benign
12	53282397	A	G	A53282397G	ESPL1	NM_012291.5(ESPL1):c.2753A>G:p.Asn918Ser	coding	Benign
12	53283244	G	A	G53283244A	ESPL1	NM_012291.5(ESPL1):c.2907G>A:p.Ser969=	coding	Benign
12	53286746	G	T	G53286746T	ESPL1	NM_012291.5(ESPL1):c.4010G>T:p.Gly1337Val	coding	Benign
12	53288179	G	A	G53288179A	ESPL1	NM_012291.5(ESPL1):c.4384G>A:p.Ala1462Thr	coding	Benign
12	53288230	A	G	A53288230G	ESPL1	NM_012291.5(ESPL1):c.4435A>G:p.Arg1479Gly	coding	Benign
12	53288258	T	A	T53288258A	ESPL1	NM_012291.5(ESPL1):c.4463T>A:p.Ile1488Asn	coding	Benign
12	53293263	C	T	C53293263T	ESPL1	NM_012291.5(ESPL1):c.6162-10C>T	noncoding	Benign
12	53307533	C	T	C53307533T	AAAS	NM_015665.6(AAAS):c.1597G>A:p.Gly533Arg	coding	Benign/Likely_benign
12	53307573	A	G	A53307573G	AAAS	NM_015665.6(AAAS):c.1557T>C:p.Thr519=	coding	Benign/Likely_benign
12	53307615	A	G	A53307615G	AAAS	NM_015665.6(AAAS):c.1515T>C:p.Pro505=	coding	Benign/Likely_benign
12	53307698	G	A	G53307698A	AAAS	NM_015665.6(AAAS):c.1432C>T:p.Arg478Ter	coding	Pathogenic
12	53307931	T	A	T53307931A	AAAS	NM_015665.6(AAAS):c.1332-2A>T	noncoding	Pathogenic
12	53308051	C	T	C53308051T	AAAS	NM_015665.6(AAAS):c.1331+1G>A	noncoding	Pathogenic
12	53308095	G	A	G53308095A	AAAS	NM_015665.6(AAAS):c.1288C>T:p.Leu430Phe	coding	Pathogenic
12	53308457	G	A	G53308457A	AAAS	NM_015665.6(AAAS):c.1159C>T:p.Gln387Ter	coding	Pathogenic
12	53308724	C	T	C53308724T	AAAS	NM_015665.6(AAAS):c.1087+1G>A	noncoding	Pathogenic
12	53309018	A	G	A53309018G	AAAS	NM_015665.6(AAAS):c.938T>C:p.Val313Ala	coding	Pathogenic
12	53309021	C	G	C53309021G	AAAS	NM_015665.6(AAAS):c.936-1G>C	coding	Pathogenic
12	53309158	G	A	G53309158A	AAAS	NM_015665.6(AAAS):c.934C>T:p.Arg312Ter	coding	Pathogenic
12	53309207	C	T	C53309207T	AAAS	NM_015665.6(AAAS):c.885G>A:p.Trp295Ter	coding	Pathogenic
12	53309237	G	A	G53309237A	AAAS	NM_015665.6(AAAS):c.855C>T:p.Phe285=	coding	Benign
12	53309624	A	G	A53309624G	AAAS	NM_015665.6(AAAS):c.787T>C:p.Ser263Pro	coding	Pathogenic/Likely_pathogenic
12	53314299	G	A	G53314299A	AAAS	NM_015665.6(AAAS):c.688C>T:p.Arg230Ter	coding	Pathogenic
12	53314832	C	T	C53314832T	AAAS	NM_015665.6(AAAS):c.464G>A:p.Arg155His	coding	Pathogenic
12	53315142	T	C	T53315142C	AAAS	NM_015665.6(AAAS):c.400-2A>G	noncoding	Pathogenic
12	53315407	C	A	C53315407A	AAAS	NM_015665.6(AAAS):c.327G>T:p.Thr109=	coding	Benign/Likely_benign
12	53320565	C	T	C53320565T	AAAS	NM_015665.6(AAAS):c.251G>A:p.Trp84Ter	coding	Pathogenic
12	53320582	C	T	C53320582T	AAAS	NM_015665.6(AAAS):c.234G>A:p.Lys78=	coding	Benign/Likely_benign
12	53321423	G	T	G53321423T	AAAS	NM_015665.6(AAAS):c.43C>A:p.Gln15Lys	coding	Pathogenic
12	53328142	C	T	C53328142T	SP7	NM_001173467.3(SP7):c.*4G>A	noncoding	Benign
12	53328314	A	G	A53328314G	SP7	NM_001173467.3(SP7):c.1128T>C:p.His376=	coding	Benign
12	53328344	G	A	G53328344A	SP7	NM_001173467.3(SP7):c.1098C>T:p.Ser366=	coding	Benign
12	53328496	G	A	G53328496A	SP7	NM_001173467.3(SP7):c.946C>T:p.Arg316Cys	coding	Pathogenic
12	53328578	C	T	C53328578T	SP7	NM_001173467.3(SP7):c.864G>A:p.Leu288=	coding	Benign/Likely_benign
12	53329584	G	A	G53329584A	SP7	NM_001173467.3(SP7):c.22-164C>T	noncoding	Benign
12	53382190	C	G	C53382190G	SP1	NM_138473.3(SP1):c.243C>G:p.Ser81=	coding	Benign
12	53383534	C	A	C53383534A	SP1	NM_138473.3(SP1):c.1587C>A:p.Leu529=	coding	Benign
12	53411186	C	T	C53411186T	SP1	NM_138473.3(SP1):c.2304C>T:p.Asn768=	coding	Benign
12	53425683	C	T	C53425683T	AMHR2	NM_020547.3(AMHR2):c.622-6C>T	noncoding	Benign
12	53429479	C	T	C53429479T	AMHR2	NM_020547.3(AMHR2):c.994C>T:p.Arg332Ter	coding	Pathogenic
12	53429907	G	A	G53429907A	AMHR2	NM_020547.3(AMHR2):c.1217G>A:p.Arg406Gln	coding	Pathogenic
12	53482786	C	T	C53482786T	MAP3K12	NM_001193511.2(MAP3K12):c.2017G>A:p.Gly673Ser	coding	Benign
12	53504394	C	G	C53504394G	TARBP2	NM_134323.2(TARBP2):c.423-3C>G	noncoding	Benign
12	53505849	T	C	T53505849C	TARBP2	NM_134323.2(TARBP2):c.942T>C:p.Ile314=	coding	Benign
12	53506856	A	G	A53506856G	NPFF	NM_001320296.2(NPFF):c.271T>C:p.Trp91Arg	coding	Benign
12	53506882	T	C	T53506882C	NPFF	NM_001320296.2(NPFF):c.245A>G:p.Asn82Ser	coding	Benign
12	53524654	T	C	T53524654C	ATF7	NM_006856.3(ATF7):c.1035A>G:p.Ala345=	coding	Benign
12	53939296	C	A	C53939296A	HOXC13	NM_017410.3(HOXC13):c.390C>A:p.Tyr130Ter	coding	Pathogenic
12	53985511	C	T	C53985511T	HOXC10	NM_017409.4(HOXC10):c.252C>T:p.Ala84=	coding	Benign
12	54000553	C	T	C54000553T	HOXC9	NM_006897.3(HOXC9):c.365C>T:p.Ala122Val	coding	Benign
12	54033155	G	C	G54033155C	HOXC5	NM_014620.6(HOXC4):c.-124+15741G>C	coding	Benign
12	54033359	G	A	G54033359A	HOXC5	NM_014620.6(HOXC4):c.-124+15945G>A	coding	Benign
12	54183897	C	A	C54183897A	SMUG1	NM_014311.2(SMUG1):c.44G>T:p.Gly15Val	coding	Benign
12	54280829	T	C	T54280829C	HNRNPA1	NM_031157.4(HNRNPA1):c.15+7T>C	noncoding	Benign
12	54281778	A	G	A54281778G	HNRNPA1	NM_031157.4(HNRNPA1):c.133-17A>G	noncoding	Benign
12	54282449	A	G	A54282449G	HNRNPA1	NM_031157.4(HNRNPA1):c.546A>G:p.Ser182=	coding	Benign
12	54283844	G	A	G54283844A	HNRNPA1	NM_031157.4(HNRNPA1):c.940G>A:p.Asp314Asn	coding	Pathogenic
12	54283845	A	T	A54283845T	HNRNPA1	NM_031157.4(HNRNPA1):c.941A>T:p.Asp314Val	coding	Pathogenic
12	54283860	A	G	A54283860G	HNRNPA1	NM_031157.4(HNRNPA1):c.956A>G:p.Asn319Ser	coding	Pathogenic
12	54283877	T	C	T54283877C	HNRNPA1	NM_031157.4(HNRNPA1):c.973T>C:p.Phe325Leu	coding	Pathogenic
12	54283877	T	G	T54283877G	HNRNPA1	NM_031157.4(HNRNPA1):c.973T>G:p.Phe325Val	coding	Pathogenic
12	54283901	T	C	T54283901C	HNRNPA1	NM_031157.4(HNRNPA1):c.997T>C:p.Phe333Leu	coding	Pathogenic
12	54349649	C	A	C54349649A	COPZ1	NM_016057.3(COPZ1):c.477C>A:p.Thr159=	coding	Benign
12	54370728	G	A	G54370728A	ZNF385A	NM_015481.3(ZNF385A):c.775-7C>T	noncoding	Benign
12	54371702	A	G	A54371702G	ZNF385A	NM_015481.3(ZNF385A):c.375T>C:p.Asn125=	coding	Benign
12	54399717	G	A	G54399717A	ITGA5	NM_002205.5(ITGA5):c.2769C>T:p.Leu923=	coding	Benign
12	54399935	C	G	C54399935G	ITGA5	NM_002205.5(ITGA5):c.2656G>C:p.Gly886Arg	coding	Benign
12	54402061	G	A	G54402061A	ITGA5	NM_002205.5(ITGA5):c.2166C>T:p.Ala722=	coding	Benign
12	54403258	G	T	G54403258T	ITGA5	NM_002205.5(ITGA5):c.1843C>A:p.Gln615Lys	coding	Benign
12	54404225	A	G	A54404225G	ITGA5	NM_002205.5(ITGA5):c.1485T>C:p.Ala495=	coding	Benign
12	54404227	C	T	C54404227T	ITGA5	NM_002205.5(ITGA5):c.1483G>A:p.Ala495Thr	coding	Benign
12	54404228	G	A	G54404228A	ITGA5	NM_002205.5(ITGA5):c.1482C>T:p.Ser494=	coding	Benign
12	54405898	C	T	C54405898T	ITGA5	NM_002205.5(ITGA5):c.935G>A:p.Arg312Gln	coding	Benign
12	54462153	G	A	G54462153A	GTSF1	NM_144594.3(GTSF1):c.348C>T:p.Ser116=	coding	Benign
12	54462182	G	A	G54462182A	GTSF1	NM_144594.3(GTSF1):c.329-10C>T	noncoding	Benign
12	54511840	G	T	G54511840T	NCKAP1L	NM_005337.5(NCKAP1L):c.773G>T:p.Arg258Leu	coding	Pathogenic
12	54516973	C	T	C54516973T	NCKAP1L	NM_005337.5(NCKAP1L):c.1076C>T:p.Pro359Leu	coding	Pathogenic
12	54517548	A	G	A54517548G	NCKAP1L	NM_005337.5(NCKAP1L):c.1111A>G:p.Met371Val	coding	Pathogenic
12	54519262	G	C	G54519262C	NCKAP1L	NM_005337.5(NCKAP1L):c.1555G>C:p.Val519Leu	coding	Pathogenic
12	54569358	C	T	C54569358T	PDE1B	NM_000924.4(PDE1B):c.402C>T:p.Phe134=	coding	Benign
12	54581054	G	A	G54581054A	PPP1R1A	NM_006741.4(PPP1R1A):c.404-4C>T	noncoding	Benign
12	54645251	C	T	C54645251T	DCD	NM_053283.4(DCD):c.211G>A:p.Asp71Asn	coding	Benign
12	55026721	C	G	C55026721G	NEUROD4	NM_021191.3(NEUROD4):c.282C>G:p.Ala94=	coding	Benign
12	55321532	C	A	C55321532A	OR6C1	NM_001005182.1(OR6C1):c.933C>A:p.Ser311Arg	coding	Benign
12	55331916	C	A	C55331916A	OR6C3	NM_054104.1(OR6C3):c.216C>A:p.Thr72=	coding	Benign
12	55332355	A	T	A55332355T	OR6C3	NM_054104.1(OR6C3):c.655A>T:p.Ile219Phe	coding	Benign
12	55637086	A	G	A55637086G	OR10P1	NM_206899.1(OR10P1):c.195A>G:p.Gln65=	coding	Benign
12	55637137	G	A	G55637137A	OR10P1	NM_206899.1(OR10P1):c.246G>A:p.Leu82=	coding	Benign
12	55637534	A	T	A55637534T	OR10P1	NM_206899.1(OR10P1):c.643A>T:p.Ile215Phe	coding	Benign
12	55637554	C	T	C55637554T	OR10P1	NM_206899.1(OR10P1):c.663C>T:p.Arg221=	coding	Benign
12	55637676	G	A	G55637676A	OR10P1	NM_206899.1(OR10P1):c.785G>A:p.Arg262Gln	coding	Benign
12	55681815	C	T	C55681815T	METTL7B	NM_152637.3(METTL7B):c.61C>T:p.Leu21Phe	coding	Benign
12	55683815	A	T	A55683815T	METTL7B	NM_152637.3(METTL7B):c.501A>T:p.Gly167=	coding	Benign
12	55683984	C	T	C55683984T	METTL7B	NM_152637.3(METTL7B):c.670C>T:p.Arg224Ter	coding	Benign
12	55685088	G	A	G55685088A	ITGA7	NM_002206.3(ITGA7):c.3384C>T:p.Pro1128=	coding	Benign/Likely_benign
12	55685300	C	G	C55685300G	ITGA7	NM_002206.3(ITGA7):c.3184-12G>C	noncoding	Benign
12	55685574	A	T	A55685574T	ITGA7	NM_002206.3(ITGA7):c.3184-286T>A	noncoding	Benign
12	55688004	C	A	C55688004A	ITGA7	NM_002206.3(ITGA7):c.3150G>T:p.Leu1050=	coding	Benign/Likely_benign
12	55688010	C	G	C55688010G	ITGA7	NM_002206.3(ITGA7):c.3144G>C:p.Gly1048=	coding	Benign
12	55688079	G	C	G55688079C	ITGA7	NM_002206.3(ITGA7):c.3075C>G:p.Tyr1025Ter	coding	Pathogenic
12	55688102	G	A	G55688102A	ITGA7	NM_002206.3(ITGA7):c.3058-6C>T	noncoding	Benign/Likely_benign
12	55688228	A	G	A55688228G	ITGA7	NM_002206.3(ITGA7):c.3031T>C:p.Leu1011=	coding	Benign
12	55688241	G	C	G55688241C	ITGA7	NM_002206.3(ITGA7):c.3018C>G:p.Ser1006=	coding	Benign
12	55689001	C	G	C55689001G	ITGA7	NM_002206.3(ITGA7):c.2845-44G>C	noncoding	Benign
12	55692655	C	G	C55692655G	ITGA7	NM_002206.3(ITGA7):c.2844+189G>C	noncoding	Benign
12	55693143	G	A	G55693143A	ITGA7	NM_002206.3(ITGA7):c.2710C>T:p.Leu904=	coding	Benign/Likely_benign
12	55693152	T	C	T55693152C	ITGA7	NM_002206.3(ITGA7):c.2701A>G:p.Ile901Val	coding	Benign/Likely_benign
12	55693700	G	C	G55693700C	ITGA7	NM_002206.3(ITGA7):c.2535+321C>G	noncoding	Benign
12	55694128	C	T	C55694128T	ITGA7	NM_002206.3(ITGA7):c.2433-5G>A	noncoding	Benign
12	55694296	G	A	G55694296A	ITGA7	NM_002206.3(ITGA7):c.2392C>T:p.Arg798Ter	coding	Pathogenic
12	55694422	T	C	T55694422C	ITGA7	NM_002206.3(ITGA7):c.2357+21A>G	noncoding	Benign
12	55694565	C	T	C55694565T	ITGA7	NM_002206.3(ITGA7):c.2278-43G>A	noncoding	Benign
12	55694989	C	T	C55694989T	ITGA7	NM_002206.3(ITGA7):c.2004-19G>A	noncoding	Benign
12	55695022	T	A	T55695022A	ITGA7	NM_002206.3(ITGA7):c.2004-52A>T	noncoding	Benign
12	55695128	C	T	C55695128T	ITGA7	NM_002206.3(ITGA7):c.2004-158G>A	noncoding	Benign
12	55695185	C	G	C55695185G	ITGA7	NM_002206.3(ITGA7):c.2004-215G>C	noncoding	Benign
12	55695425	C	T	C55695425T	ITGA7	NM_002206.3(ITGA7):c.2003+97G>A	noncoding	Benign
12	55695560	A	G	A55695560G	ITGA7	NM_002206.3(ITGA7):c.1965T>C:p.Cys655=	coding	Benign
12	55695573	C	T	C55695573T	ITGA7	NM_002206.3(ITGA7):c.1952G>A:p.Arg651His	coding	Benign
12	55695743	G	A	G55695743A	ITGA7	NM_002206.3(ITGA7):c.1888-106C>T	noncoding	Benign
12	55695770	T	C	T55695770C	ITGA7	NM_002206.3(ITGA7):c.1888-133A>G	noncoding	Benign
12	55695916	C	T	C55695916T	ITGA7	NM_002206.3(ITGA7):c.1888-279G>A	noncoding	Benign
12	55696254	C	T	C55696254T	ITGA7	NM_002206.3(ITGA7):c.1887+29G>A	noncoding	Benign
12	55696342	C	T	C55696342T	ITGA7	NM_002206.3(ITGA7):c.1828G>A:p.Gly610Arg	coding	Benign/Likely_benign
12	55696977	G	C	G55696977C	ITGA7	NM_002206.3(ITGA7):c.1659C>G:p.Pro553=	coding	Benign/Likely_benign
12	55697019	C	A	C55697019A	ITGA7	NM_002206.3(ITGA7):c.1617G>T:p.Gln539His	coding	Benign
12	55697027	G	A	G55697027A	ITGA7	NM_002206.3(ITGA7):c.1609C>T:p.Arg537Trp	coding	Benign/Likely_benign
12	55697204	G	A	G55697204A	ITGA7	NM_002206.3(ITGA7):c.1567+12C>T	noncoding	Benign
12	55697279	T	C	T55697279C	ITGA7	NM_002206.3(ITGA7):c.1506-2A>G	noncoding	Pathogenic
12	55697500	G	A	G55697500A	ITGA7	NM_002206.3(ITGA7):c.1456C>T:p.Arg486Ter	coding	Pathogenic
12	55697833	A	G	A55697833G	ITGA7	NM_002206.3(ITGA7):c.1282-11T>C	noncoding	Benign
12	55697925	C	T	C55697925T	ITGA7	NM_002206.3(ITGA7):c.1281+13G>A	noncoding	Benign/Likely_benign
12	55698376	G	A	G55698376A	ITGA7	NM_002206.3(ITGA7):c.1192+7C>T	noncoding	Benign
12	55698567	G	A	G55698567A	ITGA7	NM_002206.3(ITGA7):c.1008C>T:p.Asp336=	coding	Benign/Likely_benign
12	55698580	T	C	T55698580C	ITGA7	NM_002206.3(ITGA7):c.999-4A>G	noncoding	Benign
12	55698805	G	A	G55698805A	ITGA7	NM_002206.3(ITGA7):c.903C>T:p.Ser301=	coding	Benign
12	55698826	C	T	C55698826T	ITGA7	NM_002206.3(ITGA7):c.882G>A:p.Val294=	coding	Benign/Likely_benign
12	55698884	C	T	C55698884T	ITGA7	NM_002206.3(ITGA7):c.824G>A:p.Arg275His	coding	Benign
12	55698898	C	T	C55698898T	ITGA7	NM_002206.3(ITGA7):c.810G>A:p.Gly270=	coding	Benign
12	55698924	G	A	G55698924A	ITGA7	NM_002206.3(ITGA7):c.791-7C>T	noncoding	Benign/Likely_benign
12	55699161	A	G	A55699161G	ITGA7	NM_002206.3(ITGA7):c.791-244T>C	noncoding	Benign
12	55699682	T	C	T55699682C	ITGA7	NM_002206.3(ITGA7):c.790+188A>G	noncoding	Benign
12	55699994	G	T	G55699994T	ITGA7	NM_002206.3(ITGA7):c.671-5C>A	noncoding	Benign/Likely_benign
12	55700033	T	G	T55700033G	ITGA7	NM_002206.3(ITGA7):c.671-44A>C	noncoding	Benign
12	55701110	G	C	G55701110C	ITGA7	NM_002206.3(ITGA7):c.459C>G:p.Ile153Met	coding	Benign/Likely_benign
12	55701142	G	A	G55701142A	ITGA7	NM_002206.3(ITGA7):c.427C>T:p.Arg143Ter	coding	Pathogenic
12	55701164	G	A	G55701164A	ITGA7	NM_002206.3(ITGA7):c.415-10C>T	noncoding	Benign
12	55702690	A	G	A55702690G	ITGA7	NM_002206.3(ITGA7):c.414+182T>C	noncoding	Benign
12	55703032	T	C	T55703032C	ITGA7	NM_002206.3(ITGA7):c.334+19A>G	noncoding	Benign
12	55703100	C	A	C55703100A	ITGA7	NM_002206.3(ITGA7):c.285G>T:p.Pro95=	coding	Benign
12	55703178	C	T	C55703178T	ITGA7	NM_002206.3(ITGA7):c.207G>A:p.Trp69Ter	coding	Pathogenic
12	55703241	A	C	A55703241C	ITGA7	NM_002206.3(ITGA7):c.207-63T>G	noncoding	Benign
12	55707297	G	C	G55707297C	ITGA7	NM_002206.3(ITGA7):c.206+180C>G	noncoding	Benign
12	55707614	G	A	G55707614A	ITGA7	NM_002206.3(ITGA7):c.69C>T:p.Leu23=	coding	Benign/Likely_benign
12	55707632	G	A	G55707632A	ITGA7	NM_002206.3(ITGA7):c.51C>T:p.Tyr17=	coding	Benign
12	55707637	A	C	A55707637C	ITGA7	NM_002206.3(ITGA7):c.46T>G:p.Cys16Gly	coding	Benign/Likely_benign
12	55707654	C	T	C55707654T	ITGA7	NM_002206.3(ITGA7):c.29G>A:p.Trp10Ter	coding	Pathogenic
12	55708028	A	G	A55708028G	ITGA7	NM_001144997.1(ITGA7):c.85+4035T>C	noncoding	Benign
12	55708163	C	A	C55708163A	ITGA7	NM_001144997.1(ITGA7):c.85+3900G>T	noncoding	Benign
12	55712148	A	C	A55712148C	ITGA7	NM_001144997.1(ITGA7):c.14-14T>G	noncoding	Benign
12	55712193	G	A	G55712193A	ITGA7	NM_001144997.1(ITGA7):c.14-59C>T	noncoding	Benign
12	55720397	C	T	C55720397T	RDH5	NM_002905.4(RDH5):c.-153C>T	noncoding	Benign
12	55721287	G	A	G55721287A	RDH5	NM_002905.5(RDH5):c.103G>A:p.Gly35Ser	coding	Pathogenic
12	55721344	C	T	C55721344T	RDH5	NM_002905.4(RDH5):c.160C>T:p.Arg54Ter	coding	Pathogenic
12	55721402	C	T	C55721402T	RDH5	NM_002905.4(RDH5):c.218C>T:p.Ser73Phe	coding	Pathogenic
12	55721449	G	A	G55721449A	RDH5	NM_002905.4(RDH5):c.265G>A:p.Val89Ile	coding	Benign/Likely_benign
12	55721469	G	A	G55721469A	RDH5	NM_002905.5(RDH5):c.285G>A:p.Trp95Ter	coding	Pathogenic
12	55721760	G	A	G55721760A	RDH5	NM_002905.4(RDH5):c.382G>A:p.Asp128Asn	coding	Pathogenic
12	55721766	C	T	C55721766T	RDH5	NM_002905.5(RDH5):c.388C>T:p.Gln130Ter	coding	Pathogenic
12	55721801	C	T	C55721801T	RDH5	NM_002905.4(RDH5):c.423C>T:p.Ile141=	coding	Benign
12	55721847	C	T	C55721847T	RDH5	NM_002905.4(RDH5):c.469C>T:p.Arg157Trp	coding	Pathogenic
12	55721859	A	G	A55721859G	RDH5	NM_002905.4(RDH5):c.481A>G:p.Ile161Val	coding	Benign/Likely_benign
12	55721908	T	G	T55721908G	RDH5	NM_002905.4(RDH5):c.530T>G:p.Val177Gly	coding	Pathogenic
12	55721925	G	T	G55721925T	RDH5	NM_002905.5(RDH5):c.547G>T:p.Glu183Ter	coding	Pathogenic
12	55723878	G	C	G55723878C	RDH5	NM_002905.4(RDH5):c.570-8G>C	noncoding	Benign/Likely_benign
12	55723916	C	G	C55723916G	RDH5	NM_002905.4(RDH5):c.600C>G:p.Val200=	coding	Benign
12	55723941	C	T	C55723941T	RDH5	NM_002905.5(RDH5):c.625C>T:p.Arg209Ter	coding	Pathogenic
12	55723994	G	A	G55723994A	RDH5	NM_002905.5(RDH5):c.678G>A:p.Trp226Ter	coding	Pathogenic
12	55724028	G	T	G55724028T	RDH5	NM_002905.4(RDH5):c.712G>T:p.Gly238Trp	coding	Pathogenic
12	55724427	G	A	G55724427A	RDH5	NM_002905.4(RDH5):c.839G>A:p.Arg280His	coding	Pathogenic
12	55724429	T	C	T55724429C	RDH5	NM_002905.4(RDH5):c.841T>C:p.Tyr281His	coding	Pathogenic
12	55724468	G	C	G55724468C	RDH5	NM_002905.4(RDH5):c.880G>C:p.Ala294Pro	coding	Pathogenic
12	55726691	C	G	C55726691G	CD63	NM_001257389.1(CD63):c.426+9G>C	noncoding	Benign
12	55726739	G	A	G55726739A	CD63	NM_001257389.1(CD63):c.387C>T:p.Asn129=	coding	Benign
12	55819156	A	C	A55819156C	ORMDL2	NM_014182.5(ORMDL2):c.157A>C:p.Asn53His	coding	Benign
12	55837101	G	T	G55837101T	MMP19	NM_002429.6(MMP19):c.1462C>A:p.Pro488Thr	coding	Benign
12	55837591	G	A	G55837591A	MMP19	NM_002429.6(MMP19):c.1152C>T:p.Leu384=	coding	Benign
12	55839529	G	A	G55839529A	MMP19	NM_002429.6(MMP19):c.733C>T:p.Pro245Ser	coding	Benign
12	55840880	G	A	G55840880A	MMP19	NM_002429.6(MMP19):c.307C>T:p.Arg103Cys	coding	Benign
12	55842818	G	A	G55842818A	MMP19	NM_002429.6(MMP19):c.13C>T:p.Gln5Ter	coding	Benign
12	55939426	C	T	C55939426T	DGKA	NM_001345.5(DGKA):c.606C>T:p.Asp202=	coding	Benign
12	55940920	T	G	T55940920G	DGKA	NM_001345.5(DGKA):c.1041T>G:p.Asn347Lys	coding	Benign
12	55955337	A	G	A55955337G	PMEL	NM_001200054.1(PMEL):c.1808T>C:p.Val603Ala	coding	Benign
12	55955822	C	T	C55955822T	PMEL	NM_001200054.1(PMEL):c.1513G>A:p.Gly505Ser	coding	Benign
12	55956963	G	A	G55956963A	PMEL	NM_001200054.1(PMEL):c.1340C>T:p.Thr447Met	coding	Benign
12	55957193	C	G	C55957193G	PMEL	NM_001200054.1(PMEL):c.1110G>C:p.Glu370Asp	coding	Benign
12	55957216	G	A	G55957216A	PMEL	NM_001200054.1(PMEL):c.1087C>T:p.Pro363Ser	coding	Benign
12	55957218	G	A	G55957218A	PMEL	NM_001200054.1(PMEL):c.1085C>T:p.Ala362Val	coding	Benign
12	55957617	T	C	T55957617C	PMEL	NM_001200054.1(PMEL):c.686A>G:p.Asn229Ser	coding	Benign
12	55957649	G	A	G55957649A	PMEL	NM_001200054.1(PMEL):c.654C>T:p.Ser218=	coding	Benign
12	55997627	C	T	C55997627T	SUOX	NM_001032386.2(SUOX):c.-107C>T	noncoding	Benign
12	55997702	C	T	C55997702T	SUOX	NM_001032386.2(SUOX):c.-32C>T	noncoding	Benign
12	56041958	T	G	T56041958G	RPS26	NM_001029.5(RPS26):c.-209T>G	noncoding	Benign
12	56042132	G	A	G56042132A	RPS26	NM_001029.5(RPS26):c.-35G>A	noncoding	Benign/Likely_benign
12	56042136	C	G	C56042136G	RPS26	NM_001029.5(RPS26):c.-31C>G	noncoding	Benign
12	56042142	C	T	C56042142T	RPS26	NM_001029.5(RPS26):c.-25C>T	noncoding	Benign
12	56042145	C	G	C56042145G	RPS26	NM_001029.5(RPS26):c.-22C>G	noncoding	Benign
12	56042164	A	G	A56042164G	RPS26	NM_001029.5(RPS26):c.-3A>G	noncoding	Benign
12	56042167	A	C	A56042167C	RPS26	NM_001029.5(RPS26):c.1A>C:p.Met1Leu	coding	Pathogenic
12	56042167	A	G	A56042167G	RPS26	NM_001029.5(RPS26):c.1A>G:p.Met1Val	coding	Pathogenic
12	56042167	A	T	A56042167T	RPS26	NM_001029.5(RPS26):c.1A>T:p.Met1Leu	coding	Pathogenic
12	56042168	T	G	T56042168G	RPS26	NM_001029.5(RPS26):c.2T>G:p.Met1Arg	coding	Pathogenic
12	56042170	G	A	G56042170A	RPS26	NM_001029.5(RPS26):c.3+1G>A	coding	Pathogenic
12	56042423	A	T	A56042423T	RPS26	NM_001029.5(RPS26):c.4-2A>T	noncoding	Pathogenic
12	56042476	C	T	C56042476T	RPS26	NM_001029.5(RPS26):c.55C>T:p.Gln19Ter	coding	Pathogenic
12	56042518	G	A	G56042518A	RPS26	NM_001029.5(RPS26):c.97G>A:p.Asp33Asn	coding	Pathogenic
12	56043377	A	T	A56043377T	RPS26	NM_001029.5(RPS26):c.196A>T:p.Lys66Ter	coding	Pathogenic
12	56043400	C	G	C56043400G	RPS26	NM_001029.5(RPS26):c.219C>G:p.Tyr73Ter	coding	Pathogenic
12	56043440	C	T	C56043440T	RPS26	NM_001029.5(RPS26):c.259C>T:p.Arg87Ter	coding	Pathogenic
12	56044133	T	A	T56044133A	RPS26	NM_001029.5(RPS26):c.327T>A:p.Arg109=	coding	Benign
12	56080378	G	A	G56080378A	ERBB3	NM_001982.4(ERBB3):c.78G>A:p.Gln26=	coding	Benign
12	56086524	A	T	A56086524T	ERBB3	NM_001982.4(ERBB3):c.422-7A>T	noncoding	Benign
12	56092791	A	G	A56092791G	ERBB3	NM_001982.4(ERBB3):c.1154A>G:p.Asn385Ser	coding	Benign
12	56093873	G	C	G56093873C	ERBB3	NM_001982.4(ERBB3):c.1590G>C:p.Val530=	coding	Benign/Likely_benign
12	56094089	C	T	C56094089T	ERBB3	NM_001982.4(ERBB3):c.1614-10C>T	noncoding	Benign
12	56097856	A	T	A56097856T	ERBB3	NM_001982.4(ERBB3):c.2532A>T:p.Ser844=	coding	Benign
12	56101250	G	A	G56101250A	ERBB3	NM_001982.4(ERBB3):c.3391G>A:p.Ala1131Thr	coding	Benign
12	56101837	G	A	G56101837A	ERBB3	NM_001982.4(ERBB3):c.3811G>A:p.Gly1271Ser	coding	Benign
12	56128565	C	G	C56128565G	ESYT1	NM_001184796.1(ESYT1):c.246C>G:p.Leu82=	coding	Benign
12	56134380	G	A	G56134380A	ESYT1	NM_001184796.1(ESYT1):c.1614G>A:p.Ala538=	coding	Benign
12	56137256	G	T	G56137256T	ESYT1	NM_001184796.1(ESYT1):c.1851G>T:p.Thr617=	coding	Benign
12	56137837	C	T	C56137837T	ESYT1	NM_001184796.1(ESYT1):c.2151C>T:p.Ile717=	coding	Benign
12	56168131	T	C	T56168131C	SMARCC2	NM_001330288.2(SMARCC2):c.2779A>G:p.Met927Val	coding	Pathogenic
12	56172426	A	G	A56172426G	SMARCC2	NM_001330288.2(SMARCC2):c.1926+2T>C	noncoding	Pathogenic
12	56172427	C	T	C56172427T	SMARCC2	NM_001330288.2(SMARCC2):c.1926+1G>A	noncoding	Pathogenic
12	56172432	A	G	A56172432G	SMARCC2	NM_001330288.2(SMARCC2):c.1922T>C:p.Leu641Pro	coding	Pathogenic
12	56178096	G	C	G56178096C	SMARCC2	NM_001330288.2(SMARCC2):c.1311-3C>G	noncoding	Pathogenic
12	56181821	C	T	C56181821T	SMARCC2	NM_001330288.2(SMARCC2):c.723G>A:p.Trp241Ter	coding	Pathogenic
12	56208214	G	A	G56208214A	RNF41	NM_005785.4(RNF41):c.447C>T:p.Ile149=	coding	Benign
12	56208253	C	G	C56208253G	RNF41	NM_005785.4(RNF41):c.408G>C:p.Lys136Asn	coding	Benign
12	56231284	T	C	T56231284C	SLC39A5	NM_173596.3(SLC39A5):c.10T>C:p.Ser4Pro	coding	Benign
12	56231330	T	C	T56231330C	SLC39A5	NM_173596.3(SLC39A5):c.56T>C:p.Leu19Ser	coding	Benign
12	56231415	C	G	C56231415G	SLC39A5	NM_173596.3(SLC39A5):c.141C>G:p.Tyr47Ter	coding	Pathogenic
12	56232789	C	T	C56232789T	SLC39A5	NM_173596.3(SLC39A5):c.388C>T:p.Arg130Cys	coding	Benign
12	56234869	G	A	G56234869A	SLC39A5	NM_173596.3(SLC39A5):c.517G>A:p.Ala173Thr	coding	Benign
12	56235250	G	A	G56235250A	SLC39A5	NM_173596.3(SLC39A5):c.728G>A:p.Arg243Gln	coding	Benign
12	56235562	A	C	A56235562C	SLC39A5	NM_173596.3(SLC39A5):c.807A>C:p.Ala269=	coding	Benign
12	56235666	T	C	T56235666C	SLC39A5	NM_173596.3(SLC39A5):c.911T>C:p.Met304Thr	coding	Pathogenic
12	56252288	G	A	G56252288A	ANKRD52	NM_173595.4(ANKRD52):c.1398C>T:p.Asn466=	coding	Benign
12	56254282	G	A	G56254282A	ANKRD52	NM_173595.4(ANKRD52):c.694-3C>T	noncoding	Benign
12	56276015	G	A	G56276015A	CS	NM_004077.3(CS):c.769C>T:p.Leu257=	coding	Benign
12	56282971	A	G	A56282971G	CS	NM_004077.3(CS):c.288T>C:p.Phe96=	coding	Benign
12	56323810	G	A	G56323810A	PAN2	NM_001127460.3(PAN2):c.2181C>T:p.Pro727=	coding	Benign
12	56324325	T	C	T56324325C	PAN2	NM_001127460.3(PAN2):c.1897A>G:p.Ile633Val	coding	Benign
12	56339747	G	A	G56339747A	STAT2	NM_016584.3(IL23A):c.318G>A:p.Ser106=	coding	Benign
12	56343467	C	A	C56343467A	STAT2	NM_005419.4(STAT2):c.2478G>T:p.Gln826His	coding	Benign
12	56343472	C	A	C56343472A	STAT2	NM_005419.4(STAT2):c.2473G>T:p.Gly825Cys	coding	Benign
12	56343473	A	G	A56343473G	STAT2	NM_005419.4(STAT2):c.2472T>C:p.Ala824=	coding	Benign
12	56346487	G	A	G56346487A	STAT2	NM_005419.4(STAT2):c.1999C>T:p.Arg667Ter	coding	Pathogenic
12	56346844	G	T	G56346844T	STAT2	NM_005419.4(STAT2):c.1836C>A:p.Cys612Ter	coding	Pathogenic
12	56346898	C	G	C56346898G	STAT2	NM_005419.4(STAT2):c.1782G>C:p.Met594Ile	coding	Benign
12	56349213	T	C	T56349213C	STAT2	NM_005419.4(STAT2):c.1390A>G:p.Ile464Val	coding	Benign
12	56349260	G	A	G56349260A	STAT2	NM_005419.4(STAT2):c.1343C>T:p.Thr448Met	coding	Benign
12	56349441	C	T	C56349441T	STAT2	NM_005419.4(STAT2):c.1326G>A:p.Leu442=	coding	Benign
12	56354489	G	A	G56354489A	STAT2	NM_005419.4(STAT2):c.759C>T:p.His253=	coding	Benign/Likely_benign
12	56355471	C	T	C56355471T	STAT2	NM_005419.4(STAT2):c.443G>A:p.Arg148Gln	coding	Pathogenic
12	56355472	G	A	G56355472A	STAT2	NM_005419.4(STAT2):c.442C>T:p.Arg148Trp	coding	Pathogenic
12	56355703	C	G	C56355703G	STAT2	NM_005419.4(STAT2):c.381+5G>C	noncoding	Pathogenic
12	56355710	A	G	A56355710G	STAT2	NM_005419.4(STAT2):c.379T>C:p.Leu127=	coding	Benign
12	56356252	C	T	C56356252T	STAT2	NM_005419.4(STAT2):c.165G>A:p.Lys55=	coding	Benign
12	56361868	C	T	C56361868T	APOF	NM_001638.4(APOF):c.338G>A:p.Arg113His	coding	Benign
12	56418153	C	T	C56418153T	TIMELESS	NM_003920.5(TIMELESS):c.3435G>A:p.Ala1145=	coding	Benign
12	56420619	A	G	A56420619G	TIMELESS	NM_003920.5(TIMELESS):c.3178T>C:p.Phe1060Leu	coding	Benign
12	56421491	C	T	C56421491T	TIMELESS	NM_003920.5(TIMELESS):c.2728G>A:p.Val910Ile	coding	Benign
12	56421739	G	A	G56421739A	TIMELESS	NM_003920.5(TIMELESS):c.2713C>T:p.Arg905Trp	coding	Benign
12	56423716	A	G	A56423716G	TIMELESS	NM_003920.5(TIMELESS):c.1967-9T>C	noncoding	Benign
12	56424898	T	C	T56424898C	TIMELESS	NM_003920.5(TIMELESS):c.1732A>G:p.Met578Val	coding	Benign
12	56428287	G	A	G56428287A	TIMELESS	NM_003920.5(TIMELESS):c.1527C>T:p.Phe509=	coding	Benign
12	56433425	C	A	C56433425A	TIMELESS	NM_003920.5(TIMELESS):c.385G>T:p.Ala129Ser	coding	Benign
12	56450109	G	T	G56450109T	MIP	NM_012064.4(MIP):c.*1171C>A	noncoding	Benign
12	56450176	A	T	A56450176T	MIP	NM_012064.4(MIP):c.*1104T>A	noncoding	Benign
12	56450565	C	T	C56450565T	MIP	NM_012064.4(MIP):c.*715G>A	noncoding	Benign
12	56450665	T	C	T56450665C	MIP	NM_012064.4(MIP):c.*615A>G	noncoding	Benign
12	56450775	A	G	A56450775G	MIP	NM_012064.4(MIP):c.*505T>C	noncoding	Benign
12	56450789	T	G	T56450789G	MIP	NM_012064.4(MIP):c.*491A>C	noncoding	Benign
12	56450873	T	C	T56450873C	MIP	NM_012064.4(MIP):c.*407A>G	noncoding	Benign
12	56451186	A	C	A56451186C	MIP	NM_012064.4(MIP):c.*94T>G	noncoding	Benign
12	56451248	A	G	A56451248G	MIP	NM_012064.4(MIP):c.*32T>C	noncoding	Benign
12	56451374	C	T	C56451374T	MIP	NM_012064.4(MIP):c.698G>A:p.Arg233Lys	coding	Pathogenic
12	56451441	C	A	C56451441A	MIP	NM_012064.4(MIP):c.631G>T:p.Gly211Ter	coding	Pathogenic
12	56453600	G	A	G56453600A	MIP	NM_012064.4(MIP):c.516C>T:p.His172=	coding	Benign
12	56453703	G	C	G56453703C	MIP	NM_012064.4(MIP):c.413C>G:p.Thr138Arg	coding	Pathogenic
12	56453715	T	C	T56453715C	MIP	NM_012064.4(MIP):c.401A>G:p.Glu134Gly	coding	Pathogenic
12	56454295	C	T	C56454295T	MIP	NM_012064.4(MIP):c.319G>A:p.Val107Ile	coding	Benign/Likely_benign
12	56454415	C	T	C56454415T	MIP	NM_012064.4(MIP):c.199G>A:p.Val67Ile	coding	Benign
12	56454517	G	A	G56454517A	MIP	NM_012064.4(MIP):c.97C>T:p.Arg33Cys	coding	Pathogenic
12	56454623	G	T	G56454623T	MIP	NM_012064.4(MIP):c.-10C>A	noncoding	Benign
12	56474882	C	T	C56474882T	GLS2	NM_013267.4(GLS2):c.1011G>A:p.Gly337=	coding	Benign
12	56716216	G	A	G56716216A	NACA	NM_001365896.1(NACA):c.5314C>T:p.Pro1772Ser	noncoding	Benign
12	56720061	G	C	G56720061C	NACA	NM_001365896.1(NACA):c.1469C>G:p.Pro490Arg	coding	Benign
12	56720804	A	G	A56720804G	NACA	NM_001365896.1(NACA):c.726T>C:p.Ala242=	coding	Benign
12	56741516	A	G	A56741516G	PRIM1	NM_000946.3(PRIM1):c.901T>C:p.Cys301Arg	coding	Pathogenic
12	56744029	G	C	G56744029C	PRIM1	NM_000946.3(PRIM1):c.638+36C>G	noncoding	Pathogenic
12	56752195	C	A	C56752195A	PRIM1	NM_000946.3(PRIM1):c.103+1G>T	noncoding	Pathogenic
12	56774089	G	A	G56774089A	HSD17B6	NM_003725.4(HSD17B6):c.237G>A:p.Thr79=	coding	Benign
12	56929422	C	T	C56929422T	SDR9C7	NM_148897.3(SDR9C7):c.692G>A:p.Arg231Gln	coding	Benign
12	56929455	C	T	C56929455T	SDR9C7	NM_148897.3(SDR9C7):c.659G>A:p.Arg220Gln	coding	Benign
12	56929456	G	A	G56929456A	SDR9C7	NM_148897.3(SDR9C7):c.658C>T:p.Arg220Ter	coding	Pathogenic
12	56929515	A	G	A56929515G	SDR9C7	NM_148897.3(SDR9C7):c.599T>C:p.Ile200Thr	coding	Pathogenic
12	56930235	T	C	T56930235C	SDR9C7	NM_148897.3(SDR9C7):c.551A>G:p.Asp184Gly	coding	Pathogenic
12	56934048	G	A	G56934048A	SDR9C7	NM_148897.3(SDR9C7):c.214C>T:p.Arg72Trp	coding	Pathogenic
12	56957245	G	C	G56957245C	RDH16	NM_003708.4(RDH16):c.218C>G:p.Thr73Ser	coding	Benign
12	56995752	G	A	G56995752A	GPR182	NM_007264.4(GPR182):c.543G>A:p.Ser181=	coding	Benign
12	56995839	G	A	G56995839A	GPR182	NM_007264.4(GPR182):c.630G>A:p.Thr210=	coding	Benign
12	57012450	A	G	A57012450G	TAC3	NM_013251.4(TAC3):c.295T>C:p.Ser99Pro	coding	Benign
12	57012660	T	C	T57012660C	TAC3	NM_013251.4(TAC3):c.292+162A>G	coding	Benign
12	57012845	A	G	A57012845G	TAC3	NM_013251.4(TAC3):c.269T>C:p.Met90Thr	coding	Pathogenic
12	57015455	G	A	G57015455A	TAC3	NM_013251.4(TAC3):c.114+229C>T	noncoding	Benign
12	57015597	C	A	C57015597A	TAC3	NM_013251.4(TAC3):c.114+87G>T	noncoding	Benign
12	57028861	T	G	T57028861G	MYO1A	NM_005379.4(MYO1A):c.3026A>C:p.Glu1009Ala	coding	Benign
12	57029150	G	A	G57029150A	MYO1A	NM_005379.4(MYO1A):c.2987C>T:p.Thr996Ile	coding	Benign
12	57029218	G	A	G57029218A	MYO1A	NM_005379.4(MYO1A):c.2919C>T:p.Ser973=	coding	Benign
12	57029712	G	A	G57029712A	MYO1A	NM_005379.4(MYO1A):c.2724+28C>T	noncoding	Benign
12	57030288	G	A	G57030288A	MYO1A	NM_005379.4(MYO1A):c.2513C>T:p.Pro838Leu	coding	Benign
12	57031118	G	A	G57031118A	MYO1A	NM_005379.4(MYO1A):c.2406C>T:p.Asp802=	coding	Benign
12	57031134	G	A	G57031134A	MYO1A	NM_005379.4(MYO1A):c.2390C>T:p.Ser797Phe	coding	Benign/Likely_benign
12	57037571	T	A	T57037571A	MYO1A	NM_005379.4(MYO1A):c.2032A>T:p.Ile678Phe	coding	Benign
12	57037618	C	T	C57037618T	MYO1A	NM_005379.4(MYO1A):c.1985G>A:p.Gly662Glu	coding	Benign
12	57038792	C	T	C57038792T	MYO1A	NM_005379.4(MYO1A):c.1533+17G>A	noncoding	Benign
12	57038825	C	G	C57038825G	MYO1A	NM_005379.4(MYO1A):c.1517G>C:p.Cys506Ser	coding	Benign
12	57038975	T	C	T57038975C	MYO1A	NM_005379.4(MYO1A):c.1367A>G:p.Glu456Gly	coding	Benign
12	57039267	G	A	G57039267A	MYO1A	NM_005379.4(MYO1A):c.1277C>T:p.Pro426Leu	coding	Benign/Likely_benign
12	57041268	A	G	A57041268G	MYO1A	NM_005379.4(MYO1A):c.1185T>C:p.Phe395=	coding	Benign
12	57043335	C	T	C57043335T	MYO1A	NM_005379.4(MYO1A):c.916G>A:p.Val306Met	coding	Benign/Likely_benign
12	57044168	G	C	G57044168C	MYO1A	NM_005379.4(MYO1A):c.682C>G:p.Leu228Val	coding	Benign
12	57048275	C	G	C57048275G	MYO1A	NM_005379.4(MYO1A):c.49G>C:p.Glu17Gln	coding	Benign
12	57059916	C	T	C57059916T	NEMP1	NM_001130963.2(NEMP1):c.1298G>A:p.Arg433Gln	coding	Benign
12	57060937	C	G	C57060937G	NEMP1	NM_001130963.2(NEMP1):c.989G>C:p.Cys330Ser	coding	Benign
12	57091672	C	T	C57091672T	NAB2	NM_005967.4(NAB2):c.631C>T:p.Pro211Ser	coding	Benign
12	57098510	G	A	G57098510A	STAT6	NM_003153.5(STAT6):c.2154C>T:p.Phe718=	coding	Benign
12	57098524	C	T	C57098524T	STAT6	NM_003153.5(STAT6):c.2140G>A:p.Val714Met	coding	Benign
12	57099819	G	A	G57099819A	STAT6	NM_003153.5(STAT6):c.1692C>T:p.Ser564=	coding	Benign
12	57102927	G	A	G57102927A	STAT6	NM_003153.5(STAT6):c.1213-6C>T	noncoding	Benign
12	57105141	C	T	C57105141T	STAT6	NM_003153.5(STAT6):c.1001+10G>A	noncoding	Benign
12	57105475	C	T	C57105475T	STAT6	NM_003153.5(STAT6):c.805G>A:p.Val269Ile	coding	Benign
12	57145012	A	G	A57145012G	LRP1	NM_002332.3(LRP1):c.489A>G:p.Leu163=	coding	Benign
12	57145066	G	A	G57145066A	LRP1	NM_002332.3(LRP1):c.543G>A:p.Leu181=	coding	Benign
12	57145411	G	A	G57145411A	LRP1	NM_002332.3(LRP1):c.762G>A:p.Thr254=	coding	Benign
12	57156817	G	A	G57156817A	LRP1	NM_002332.3(LRP1):c.1458G>A:p.Pro486=	coding	Benign
12	57162415	C	T	C57162415T	LRP1	NM_002332.3(LRP1):c.2301C>T:p.Arg767=	coding	Benign
12	57162453	C	T	C57162453T	LRP1	NM_002332.3(LRP1):c.2339C>T:p.Thr780Ile	coding	Benign
12	57173292	C	T	C57173292T	LRP1	NM_002332.3(LRP1):c.3288C>T:p.Ser1096=	coding	Benign
12	57173820	T	C	T57173820C	LRP1	NM_002332.3(LRP1):c.3387T>C:p.Asn1129=	coding	Benign
12	57173940	C	T	C57173940T	LRP1	NM_002332.3(LRP1):c.3507C>T:p.Asn1169=	coding	Benign
12	57175646	A	G	A57175646G	LRP1	NM_002332.3(LRP1):c.3734A>G:p.Lys1245Arg	coding	Pathogenic
12	57175683	C	T	C57175683T	LRP1	NM_002332.3(LRP1):c.3771C>T:p.Asp1257=	coding	Benign
12	57177466	C	T	C57177466T	LRP1	NM_002332.3(LRP1):c.4236C>T:p.Arg1412=	coding	Benign
12	57177541	C	T	C57177541T	LRP1	NM_002332.3(LRP1):c.4311C>T:p.Asn1437=	coding	Benign
12	57179489	C	T	C57179489T	LRP1	NM_002332.3(LRP1):c.4899C>T:p.Asp1633=	coding	Benign
12	57179945	C	T	C57179945T	LRP1	NM_002332.3(LRP1):c.5130C>T:p.His1710=	coding	Benign
12	57183854	C	T	C57183854T	LRP1	NM_002332.3(LRP1):c.5874C>T:p.Asp1958=	coding	Benign
12	57184913	C	T	C57184913T	LRP1	NM_002332.3(LRP1):c.6261C>T:p.Arg2087=	coding	Benign
12	57185111	G	C	G57185111C	LRP1	NM_002332.3(LRP1):c.6369G>C:p.Gly2123=	coding	Benign
12	57185538	C	T	C57185538T	LRP1	NM_002332.3(LRP1):c.6471C>T:p.Asn2157=	coding	Benign
12	57185637	C	T	C57185637T	LRP1	NM_002332.3(LRP1):c.6570C>T:p.Asp2190=	coding	Benign
12	57185652	C	T	C57185652T	LRP1	NM_002332.3(LRP1):c.6585C>T:p.Arg2195=	coding	Benign
12	57185874	C	T	C57185874T	LRP1	NM_002332.3(LRP1):c.6807C>T:p.Asn2269=	coding	Benign
12	57190859	G	A	G57190859A	LRP1	NM_002332.3(LRP1):c.7086G>A:p.Ala2362=	coding	Benign
12	57190865	G	T	G57190865T	LRP1	NM_002332.3(LRP1):c.7092G>T:p.Ser2364=	coding	Benign
12	57190961	C	T	C57190961T	LRP1	NM_002332.3(LRP1):c.7188C>T:p.Ala2396=	coding	Benign
12	57193225	C	T	C57193225T	LRP1	NM_002332.3(LRP1):c.7605C>T:p.Gly2535=	coding	Benign
12	57193273	G	A	G57193273A	LRP1	NM_002332.3(LRP1):c.7653G>A:p.Lys2551=	coding	Benign
12	57193282	C	T	C57193282T	LRP1	NM_002332.3(LRP1):c.7662C>T:p.Ser2554=	coding	Benign
12	57193654	T	C	T57193654C	LRP1	NM_002332.3(LRP1):c.7773T>C:p.Cys2591=	coding	Benign
12	57193932	G	A	G57193932A	LRP1	NM_002332.3(LRP1):c.7838G>A:p.Arg2613Gln	coding	Benign
12	57195055	C	T	C57195055T	LRP1	NM_002332.3(LRP1):c.8262C>T:p.Asp2754=	coding	Benign
12	57195284	C	T	C57195284T	LRP1	NM_002332.3(LRP1):c.8322C>T:p.Cys2774=	coding	Benign
12	57195662	C	T	C57195662T	LRP1	NM_002332.3(LRP1):c.8442C>T:p.Tyr2814=	coding	Benign
12	57195710	C	T	C57195710T	LRP1	NM_002332.3(LRP1):c.8490C>T:p.Cys2830=	coding	Benign
12	57197174	C	T	C57197174T	LRP1	NM_002332.3(LRP1):c.9076+9C>T	noncoding	Benign
12	57197641	C	T	C57197641T	LRP1	NM_002332.3(LRP1):c.9259C>T:p.His3087Tyr	coding	Benign
12	57198284	G	A	G57198284A	LRP1	NM_002332.3(LRP1):c.9411G>A:p.Thr3137=	coding	Benign
12	57200769	C	T	C57200769T	LRP1	NM_002332.3(LRP1):c.10179C>T:p.Cys3393=	coding	Benign
12	57201585	C	T	C57201585T	LRP1	NM_002332.3(LRP1):c.10434C>T:p.Asp3478=	coding	Benign
12	57202541	C	T	C57202541T	LRP1	NM_002332.3(LRP1):c.10711+4C>T	noncoding	Benign
12	57203197	C	T	C57203197T	LRP1	NM_002332.3(LRP1):c.10728C>T:p.Ser3576=	coding	Benign
12	57203236	G	T	G57203236T	LRP1	NM_002332.3(LRP1):c.10767G>T:p.Ala3589=	coding	Benign
12	57203499	C	T	C57203499T	LRP1	NM_002332.3(LRP1):c.10929C>T:p.Asp3643=	coding	Benign
12	57205347	A	G	A57205347G	LRP1	NM_002332.3(LRP1):c.11336-4A>G	noncoding	Benign
12	57205583	C	T	C57205583T	LRP1	NM_002332.3(LRP1):c.11496C>T:p.Gly3832=	coding	Benign
12	57206498	C	T	C57206498T	LRP1	NM_002332.3(LRP1):c.11616C>T:p.Ile3872=	coding	Benign
12	57209098	A	T	A57209098T	LRP1	NM_002332.3(LRP1):c.12161A>T:p.Tyr4054Phe	coding	Benign
12	57209761	G	A	G57209761A	LRP1	NM_002332.3(LRP1):c.12332G>A:p.Arg4111His	coding	Benign
12	57210410	T	C	T57210410C	LRP1	NM_002332.3(LRP1):c.12684T>C:p.Gly4228=	coding	Benign
12	57231707	C	T	C57231707T	SHMT2	NM_005412.6(SHMT2):c.312-6C>T	noncoding	Benign
12	57243810	G	A	G57243810A	STAC3	NM_145064.3(STAC3):c.*2C>T	noncoding	Benign
12	57243821	C	T	C57243821T	STAC3	NM_145064.3(STAC3):c.1086G>A:p.Glu362=	coding	Benign
12	57243884	C	G	C57243884G	STAC3	NM_145064.3(STAC3):c.1023G>C:p.Ala341=	coding	Benign/Likely_benign
12	57243911	C	A	C57243911A	STAC3	NM_145064.3(STAC3):c.997-1G>T	coding	Pathogenic
12	57244071	T	A	T57244071A	STAC3	NM_145064.3(STAC3):c.996+17A>T	noncoding	Benign
12	57244322	C	G	C57244322G	STAC3	NM_145064.3(STAC3):c.851G>C:p.Trp284Ser	coding	Pathogenic
12	57244331	T	C	T57244331C	STAC3	NM_145064.3(STAC3):c.842A>G:p.Asn281Ser	coding	Benign
12	57245219	G	A	G57245219A	STAC3	NM_145064.3(STAC3):c.604-8C>T	noncoding	Benign
12	57246837	C	T	C57246837T	STAC3	NM_145064.3(STAC3):c.570G>A:p.Lys190=	coding	Benign
12	57248783	G	A	G57248783A	STAC3	NM_145064.3(STAC3):c.355C>T:p.Arg119Cys	coding	Benign/Likely_benign
12	57249293	G	A	G57249293A	STAC3	NM_145064.3(STAC3):c.82C>T:p.Gln28Ter	coding	Pathogenic
12	57266789	G	A	G57266789A	R3HDM2	NM_001330121.2(R3HDM2):c.2133C>T:p.Tyr711=	coding	Benign
12	57464770	G	A	G57464770A	GLI1	NM_005269.3(GLI1):c.291G>A:p.Thr97=	coding	Benign
12	57464816	C	T	C57464816T	GLI1	NM_005269.3(GLI1):c.337C>T:p.Arg113Ter	coding	Pathogenic
12	57465224	C	G	C57465224G	GLI1	NM_005269.3(GLI1):c.503C>G:p.Pro168Arg	coding	Benign
12	57468130	G	A	G57468130A	GLI1	NM_005269.3(GLI1):c.1214G>A:p.Arg405Gln	coding	Benign
12	57469682	C	T	C57469682T	GLI1	NM_005269.3(GLI1):c.1560C>T:p.Pro520=	coding	Benign
12	57470670	C	T	C57470670T	GLI1	NM_005269.3(GLI1):c.1930C>T:p.Gln644Ter	coding	Pathogenic
12	57470876	C	T	C57470876T	GLI1	NM_005269.3(GLI1):c.2136C>T:p.Ser712=	coding	Benign
12	57471080	G	A	G57471080A	GLI1	NM_005269.3(GLI1):c.2340G>A:p.Trp780Ter	coding	Pathogenic
12	57471775	G	T	G57471775T	GLI1	NM_005269.3(GLI1):c.3035G>T:p.Gly1012Val	coding	Benign
12	57472058	C	T	C57472058T	GLI1	NM_005269.3(GLI1):c.3318C>T:p.Ala1106=	coding	Benign
12	57479200	A	C	A57479200C	ARHGAP9	NM_032496.4(ARHGAP9):c.207T>G:p.Ala69=	coding	Benign
12	57489410	C	T	C57489410T	MARS1	NM_004990.4(MARS1):c.280-14C>T	noncoding	Benign/Likely_benign
12	57489958	C	T	C57489958T	MARS1	NM_004990.4(MARS1):c.477C>T:p.Pro159=	coding	Benign
12	57490342	G	A	G57490342A	MARS1	NM_004990.4(MARS1):c.626G>A:p.Ser209Asn	coding	Benign/Likely_benign
12	57498187	C	T	C57498187T	MARS1	NM_004990.4(MARS1):c.801C>T:p.Leu267=	coding	Benign/Likely_benign
12	57498259	C	T	C57498259T	MARS1	NM_004990.4(MARS1):c.873C>T:p.Ala291=	coding	Benign
12	57498433	C	T	C57498433T	MARS1	NM_004990.4(MARS1):c.901C>T:p.Arg301Cys	coding	Benign/Likely_benign
12	57498563	A	G	A57498563G	MARS1	NM_004990.4(MARS1):c.1031A>G:p.Tyr344Cys	coding	Pathogenic
12	57504220	C	T	C57504220T	MARS1	NM_004990.4(MARS1):c.1294-5C>T	noncoding	Benign/Likely_benign
12	57504291	C	T	C57504291T	MARS1	NM_004990.4(MARS1):c.1360C>T:p.Leu454=	coding	Benign/Likely_benign
12	57511829	A	G	A57511829G	MARS1	NM_004990.4(MARS1):c.1500A>G:p.Lys500=	coding	Benign
12	57512036	T	C	T57512036C	MARS1	NM_004990.4(MARS1):c.1568T>C:p.Ile523Thr	coding	Pathogenic
12	57512289	C	T	C57512289T	MARS1	NM_004990.4(MARS1):c.1689C>T:p.Val563=	coding	Benign
12	57512360	A	G	A57512360G	MARS1	NM_004990.4(MARS1):c.1753+7A>G	noncoding	Benign/Likely_benign
12	57512809	G	A	G57512809A	MARS1	NM_004990.4(MARS1):c.1812G>A:p.Gly604=	coding	Benign
12	57512811	A	T	A57512811T	MARS1	NM_004990.4(MARS1):c.1814A>T:p.Asp605Val	coding	Pathogenic
12	57515069	G	A	G57515069A	MARS1	NM_004990.4(MARS1):c.2204+11G>A	noncoding	Benign/Likely_benign
12	57515154	C	A	C57515154A	MARS1	NM_004990.4(MARS1):c.2209C>A:p.Arg737=	coding	Benign
12	57515926	C	A	C57515926A	MARS1	NM_004990.4(MARS1):c.2398C>A:p.Pro800Thr	coding	Pathogenic
12	57516259	G	A	G57516259A	MARS1	NM_004990.4(MARS1):c.2478G>A:p.Pro826=	coding	Benign
12	57516313	G	A	G57516313A	MARS1	NM_004990.4(MARS1):c.2532G>A:p.Ala844=	coding	Benign
12	57517429	A	G	A57517429G	DDIT3	NM_004083.5(DDIT3):c.-23T>C	coding	Benign
12	57517463	G	C	G57517463C	DDIT3	NM_004083.5(DDIT3):c.-32-25C>G	coding	Benign
12	57524979	G	A	G57524979A	MBD6	NM_052897.4(MBD6):c.243G>A:p.Pro81=	coding	Benign
12	57525746	C	G	C57525746G	MBD6	NM_052897.4(MBD6):c.778C>G:p.Leu260Val	coding	Benign
12	57526046	C	T	C57526046T	MBD6	NM_052897.4(MBD6):c.1078C>T:p.Arg360Cys	coding	Benign
12	57527152	C	A	C57527152A	MBD6	NM_052897.4(MBD6):c.2007C>A:p.Ala669=	coding	Benign
12	57527501	T	C	T57527501C	MBD6	NM_052897.4(MBD6):c.2083-6T>C	noncoding	Benign
12	57528381	G	C	G57528381C	MBD6	NM_052897.4(MBD6):c.2641G>C:p.Gly881Arg	coding	Benign
12	57550331	C	T	C57550331T	KIF5A	NM_004984.4(KIF5A):c.60C>T:p.Asn20=	coding	Benign
12	57550710	C	T	C57550710T	KIF5A	NM_004984.4(KIF5A):c.129+310C>T	noncoding	Benign
12	57564103	G	A	G57564103A	KIF5A	NM_004984.4(KIF5A):c.292-5G>A	noncoding	Benign
12	57564226	G	A	G57564226A	KIF5A	NM_004984.4(KIF5A):c.396+14G>A	noncoding	Benign
12	57564530	A	G	A57564530G	KIF5A	NM_004984.4(KIF5A):c.445+22A>G	noncoding	Benign
12	57564900	T	C	T57564900C	KIF5A	NM_004984.4(KIF5A):c.446-18T>C	noncoding	Benign
12	57564943	C	T	C57564943T	KIF5A	NM_004984.4(KIF5A):c.471C>T:p.His157=	coding	Benign/Likely_benign
12	57564956	C	T	C57564956T	KIF5A	NM_004984.4(KIF5A):c.484C>T:p.Arg162Trp	coding	Pathogenic
12	57567155	G	A	G57567155A	KIF5A	NM_004984.4(KIF5A):c.531G>A:p.Pro177=	coding	Benign
12	57567514	C	T	C57567514T	KIF5A	NM_004984.4(KIF5A):c.610C>T:p.Arg204Trp	coding	Pathogenic
12	57567515	G	A	G57567515A	KIF5A	NM_004984.4(KIF5A):c.611G>A:p.Arg204Gln	coding	Pathogenic/Likely_pathogenic
12	57567598	G	A	G57567598A	KIF5A	NM_004984.4(KIF5A):c.694G>A:p.Asp232Asn	coding	Pathogenic
12	57567608	G	A	G57567608A	KIF5A	NM_004984.4(KIF5A):c.704G>A:p.Gly235Glu	coding	Pathogenic
12	57567626	G	A	G57567626A	KIF5A	NM_004984.4(KIF5A):c.714+8G>A	noncoding	Benign/Likely_benign
12	57568999	G	A	G57568999A	KIF5A	NM_004984.4(KIF5A):c.751G>A:p.Glu251Lys	coding	Pathogenic
12	57569015	A	G	A57569015G	KIF5A	NM_004984.4(KIF5A):c.767A>G:p.Asn256Ser	coding	Pathogenic
12	57569237	G	T	G57569237T	KIF5A	NM_004984.4(KIF5A):c.820-19G>T	noncoding	Benign/Likely_benign
12	57569247	C	A	C57569247A	KIF5A	NM_004984.4(KIF5A):c.820-9C>A	noncoding	Benign
12	57569263	A	G	A57569263G	KIF5A	NM_004984.4(KIF5A):c.827A>G:p.Tyr276Cys	coding	Pathogenic/Likely_pathogenic
12	57569274	C	T	C57569274T	KIF5A	NM_004984.4(KIF5A):c.838C>T:p.Arg280Cys	coding	Pathogenic/Likely_pathogenic
12	57569671	C	T	C57569671T	KIF5A	NM_004984.4(KIF5A):c.1105C>T:p.Arg369Trp	coding	Benign/Likely_benign
12	57570045	G	A	G57570045A	KIF5A	NM_004984.4(KIF5A):c.1176G>A:p.Glu392=	coding	Benign
12	57570171	G	A	G57570171A	KIF5A	NM_004984.4(KIF5A):c.1293+9G>A	noncoding	Benign/Likely_benign
12	57572076	C	T	C57572076T	KIF5A	NM_004984.4(KIF5A):c.1378C>T:p.Arg460Ter	coding	Pathogenic
12	57572646	C	T	C57572646T	KIF5A	NM_004984.4(KIF5A):c.1636C>T:p.Arg546Ter	coding	Pathogenic
12	57574932	C	G	C57574932G	KIF5A	NM_004984.4(KIF5A):c.1717-152C>G	noncoding	Benign
12	57574955	G	A	G57574955A	KIF5A	NM_004984.4(KIF5A):c.1717-129G>A	noncoding	Benign
12	57575775	C	T	C57575775T	KIF5A	NM_004984.4(KIF5A):c.2023+18C>T	noncoding	Benign
12	57576079	T	G	T57576079G	KIF5A	NM_004984.4(KIF5A):c.2024-8T>G	noncoding	Benign
12	57576103	G	A	G57576103A	KIF5A	NM_004984.4(KIF5A):c.2040G>A:p.Val680=	coding	Benign/Likely_benign
12	57576757	G	A	G57576757A	KIF5A	NM_004984.4(KIF5A):c.2199-4G>A	noncoding	Benign/Likely_benign
12	57578050	C	T	C57578050T	KIF5A	NM_004984.4(KIF5A):c.2403C>T:p.Phe801=	coding	Benign/Likely_benign
12	57578059	C	T	C57578059T	KIF5A	NM_004984.4(KIF5A):c.2412C>T:p.Asp804=	coding	Benign/Likely_benign
12	57578065	G	A	G57578065A	KIF5A	NM_004984.4(KIF5A):c.2418G>A:p.Thr806=	coding	Benign/Likely_benign
12	57578350	T	G	T57578350G	KIF5A	NM_004984.4(KIF5A):c.2538+8T>G	noncoding	Benign/Likely_benign
12	57580887	G	A	G57580887A	KIF5A	NM_004984.4(KIF5A):c.2539-69G>A	noncoding	Benign
12	57581372	A	C	A57581372C	KIF5A	NM_004984.4(KIF5A):c.2756-43A>C	noncoding	Benign
12	57581428	G	A	G57581428A	KIF5A	NM_004984.4(KIF5A):c.2769G>A:p.Arg923=	coding	Benign/Likely_benign
12	57581491	C	T	C57581491T	KIF5A	NM_004984.4(KIF5A):c.2832C>T:p.Ile944=	coding	Benign
12	57581498	A	G	A57581498G	KIF5A	NM_004984.4(KIF5A):c.2839A>G:p.Thr947Ala	coding	Benign/Likely_benign
12	57581787	A	G	A57581787G	KIF5A	NM_004984.4(KIF5A):c.2910-83A>G	noncoding	Benign
12	57582335	A	G	A57582335G	KIF5A	NM_004984.4(KIF5A):c.2993-267A>G	noncoding	Benign
12	57582385	G	A	G57582385A	KIF5A	NM_004984.4(KIF5A):c.2993-217G>A	noncoding	Benign
12	57582864	C	G	C57582864G	KIF5A	NM_004984.4(KIF5A):c.3020+235C>G	noncoding	Benign
12	57583220	C	T	C57583220T	KIF5A	NM_004984.4(KIF5A):c.36+5C>T	noncoding	Benign
12	57583257	C	A	C57583257A	KIF5A	NM_004984.4(KIF5A):c.36+42C>A	noncoding	Benign
12	57584344	C	T	C57584344T	KIF5A	NM_004984.4(KIF5A):c.*163C>T	noncoding	Benign
12	57584575	A	G	A57584575G	KIF5A	NM_004984.4(KIF5A):c.*394A>G	noncoding	Benign
12	57584606	C	T	C57584606T	KIF5A	NM_004984.4(KIF5A):c.*425C>T	noncoding	Benign
12	57626742	C	T	C57626742T	B4GALNT1	NM_001478.5(B4GALNT1):c.*2G>A	noncoding	Benign
12	57626799	G	A	G57626799A	B4GALNT1	NM_001478.5(B4GALNT1):c.1547C>T:p.Ala516Val	coding	Benign
12	57626891	G	C	G57626891C	B4GALNT1	NM_001478.5(B4GALNT1):c.1455C>G:p.Ser485=	coding	Benign/Likely_benign
12	57626971	G	A	G57626971A	B4GALNT1	NM_001478.5(B4GALNT1):c.1385-10C>T	noncoding	Benign/Likely_benign
12	57627704	T	G	T57627704G	B4GALNT1	NM_001478.5(B4GALNT1):c.1298A>C:p.Asp433Ala	coding	Pathogenic
12	57627730	G	A	G57627730A	B4GALNT1	NM_001478.5(B4GALNT1):c.1272C>T:p.Val424=	coding	Benign
12	57628130	G	A	G57628130A	B4GALNT1	NM_001478.5(B4GALNT1):c.1135C>T:p.Leu379=	coding	Benign
12	57628146	C	T	C57628146T	B4GALNT1	NM_001478.5(B4GALNT1):c.1119G>A:p.Val373=	coding	Benign
12	57628241	G	A	G57628241A	B4GALNT1	NM_001478.5(B4GALNT1):c.1024C>T:p.Leu342=	coding	Benign
12	57628835	C	T	C57628835T	B4GALNT1	NM_001478.5(B4GALNT1):c.880G>A:p.Ala294Thr	coding	Benign/Likely_benign
12	57628910	T	A	T57628910A	B4GALNT1	NM_001478.5(B4GALNT1):c.812-7A>T	noncoding	Benign
12	57629066	C	T	C57629066T	B4GALNT1	NM_001478.5(B4GALNT1):c.793G>A:p.Gly265Arg	coding	Benign/Likely_benign
12	57629091	C	T	C57629091T	B4GALNT1	NM_001478.5(B4GALNT1):c.768G>A:p.Pro256=	coding	Benign
12	57630182	G	A	G57630182A	B4GALNT1	NM_001478.5(B4GALNT1):c.682C>T:p.Arg228Ter	coding	Pathogenic
12	57630198	C	A	C57630198A	B4GALNT1	NM_001478.5(B4GALNT1):c.666G>T:p.Leu222=	coding	Benign
12	57630279	T	C	T57630279C	B4GALNT1	NM_001478.5(B4GALNT1):c.585A>G:p.Gly195=	coding	Benign
12	57630495	C	G	C57630495G	B4GALNT1	NM_001478.5(B4GALNT1):c.514G>C:p.Gly172Arg	coding	Benign
12	57631181	G	A	G57631181A	B4GALNT1	NM_001478.5(B4GALNT1):c.383+19C>T	noncoding	Benign
12	57631225	G	A	G57631225A	B4GALNT1	NM_001478.5(B4GALNT1):c.358C>T:p.Gln120Ter	coding	Pathogenic
12	57631291	G	A	G57631291A	B4GALNT1	NM_001478.5(B4GALNT1):c.292C>T:p.Arg98Ter	coding	Pathogenic
12	57631371	G	A	G57631371A	B4GALNT1	NM_001478.5(B4GALNT1):c.219-7C>T	noncoding	Benign
12	57632030	G	C	G57632030C	B4GALNT1	NM_001478.5(B4GALNT1):c.103C>G:p.Leu35Val	coding	Benign
12	57694302	G	A	G57694302A	OS9	NM_006812.4(OS9):c.141G>A:p.Pro47=	coding	Benign
12	57696268	T	C	T57696268C	OS9	NM_006812.4(OS9):c.481-7T>C	noncoding	Benign
12	57718372	C	T	C57718372T	OS9	NM_006812.4(OS9):c.1361C>T:p.Ser454Leu	coding	Benign
12	57732948	C	T	C57732948T	AGAP2	NM_014770.4(AGAP2):c.573G>A:p.Val191=	coding	Benign
12	57747774	G	A	G57747774A	CDK4	NM_000075.4(CDK4):c.*751C>T	noncoding	Benign
12	57747819	C	T	C57747819T	CDK4	NM_000075.4(CDK4):c.*706G>A	noncoding	Benign
12	57748004	C	T	C57748004T	CDK4	NM_000075.4(CDK4):c.*521G>A	noncoding	Benign
12	57748034	G	A	G57748034A	CDK4	NM_000075.4(CDK4):c.*491C>T	noncoding	Benign
12	57748088	G	C	G57748088C	CDK4	NM_000075.4(CDK4):c.*437C>G	noncoding	Benign
12	57748155	A	C	A57748155C	CDK4	NM_000075.4(CDK4):c.*370T>G	noncoding	Benign
12	57748315	C	T	C57748315T	CDK4	NM_000075.4(CDK4):c.*210G>A	noncoding	Benign
12	57748603	A	G	A57748603G	CDK4	NM_000075.4(CDK4):c.834T>C:p.Phe278=	coding	Benign/Likely_benign
12	57749188	C	T	C57749188T	CDK4	NM_000075.4(CDK4):c.813G>A:p.Leu271=	coding	Benign/Likely_benign
12	57749224	C	T	C57749224T	CDK4	NM_000075.4(CDK4):c.777G>A:p.Ser259=	coding	Benign/Likely_benign
12	57749305	C	T	C57749305T	CDK4	NM_000075.4(CDK4):c.696G>A:p.Leu232=	coding	Benign
12	57749321	T	A	T57749321A	CDK4	NM_000075.4(CDK4):c.684-4A>T	noncoding	Benign/Likely_benign
12	57749512	G	A	G57749512A	CDK4	NM_000075.4(CDK4):c.633-8C>T	noncoding	Benign/Likely_benign
12	57750739	G	A	G57750739A	CDK4	NM_000075.4(CDK4):c.549C>T:p.Pro183=	coding	Benign/Likely_benign
12	57750915	C	T	C57750915T	CDK4	NM_000075.4(CDK4):c.522+8G>A	noncoding	Benign
12	57750998	T	C	T57750998C	CDK4	NM_000075.4(CDK4):c.447A>G:p.Thr149=	coding	Benign
12	57751138	C	G	C57751138G	CDK4	NM_000075.4(CDK4):c.355-48G>C	noncoding	Benign
12	57751188	G	A	G57751188A	CDK4	NM_000075.4(CDK4):c.354+19C>T	noncoding	Benign
12	57751255	T	C	T57751255C	CDK4	NM_000075.4(CDK4):c.306A>G:p.Thr102=	coding	Benign/Likely_benign
12	57751647	C	T	C57751647T	CDK4	NM_000075.4(CDK4):c.71G>A:p.Arg24His	coding	Pathogenic
12	57751648	G	A	G57751648A	CDK4	NM_000075.4(CDK4):c.70C>T:p.Arg24Cys	coding	Pathogenic
12	57752215	G	C	G57752215C	CDK4	NM_000075.4(CDK4):c.-60C>G	noncoding	Benign
12	57763217	C	T	C57763217T	CYP27B1	NM_000785.4(CYP27B1):c.1452G>A:p.Ala484=	coding	Benign
12	57763667	G	A	G57763667A	CYP27B1	NM_000785.4(CYP27B1):c.1357C>T:p.Arg453Cys	coding	Pathogenic
12	57763738	C	G	C57763738G	CYP27B1	NM_000785.4(CYP27B1):c.1286G>C:p.Arg429Pro	coding	Pathogenic
12	57764147	C	T	C57764147T	CYP27B1	NM_000785.4(CYP27B1):c.1166G>A:p.Arg389His	coding	Pathogenic/Likely_pathogenic
12	57764148	G	C	G57764148C	CYP27B1	NM_000785.4(CYP27B1):c.1165C>G:p.Arg389Gly	coding	Pathogenic
12	57764169	G	A	G57764169A	CYP27B1	NM_000785.4(CYP27B1):c.1144C>T:p.Pro382Ser	coding	Pathogenic
12	57764487	G	A	G57764487A	CYP27B1	NM_000785.4(CYP27B1):c.1027C>T:p.Leu343Phe	coding	Pathogenic
12	57764510	C	G	C57764510G	CYP27B1	NM_000785.4(CYP27B1):c.1004G>C:p.Arg335Pro	coding	Pathogenic
12	57764755	G	C	G57764755C	CYP27B1	NM_000785.4(CYP27B1):c.962C>G:p.Thr321Arg	coding	Pathogenic
12	57765296	C	T	C57765296T	CYP27B1	NM_000785.4(CYP27B1):c.589+1G>A	noncoding	Pathogenic
12	57765320	T	C	T57765320C	CYP27B1	NM_000785.4(CYP27B1):c.566A>G:p.Glu189Gly	coding	Pathogenic
12	57765390	C	G	C57765390G	CYP27B1	NM_000785.4(CYP27B1):c.496G>C:p.Val166Leu	coding	Benign
12	57766006	C	T	C57766006T	CYP27B1	NM_000785.4(CYP27B1):c.386+1G>A	noncoding	Pathogenic
12	57766019	C	T	C57766019T	CYP27B1	NM_000785.4(CYP27B1):c.374G>A:p.Gly125Glu	coding	Pathogenic
12	57766088	C	T	C57766088T	CYP27B1	NM_000785.4(CYP27B1):c.305G>A:p.Gly102Glu	coding	Pathogenic
12	57782806	C	T	C57782806T	TSFM	NM_005726.6(TSFM):c.5C>T:p.Ser2Leu	coding	Benign
12	57782831	T	C	T57782831C	TSFM	NM_005726.6(TSFM):c.30T>C:p.Phe10=	coding	Benign
12	57783169	T	A	T57783169A	TSFM	NM_005726.6(TSFM):c.117T>A:p.Arg39=	coding	Benign
12	57783509	G	A	G57783509A	TSFM	NM_005726.6(TSFM):c.231+226G>A	noncoding	Benign
12	57786144	T	G	T57786144G	TSFM	NM_005726.6(TSFM):c.232-19T>G	noncoding	Benign
12	57792039	A	G	A57792039G	TSFM	NM_005726.6(TSFM):c.484-947A>G	noncoding	Benign
12	57793059	T	A	T57793059A	TSFM	NM_005726.6(TSFM):c.557T>A:p.Leu186Ter	coding	Pathogenic
12	57796359	G	A	G57796359A	TSFM	NM_005726.6(TSFM):c.754G>A:p.Val252Ile	coding	Benign/Likely_benign
12	57796401	C	A	C57796401A	TSFM	NM_005726.6(TSFM):c.796C>A:p.Leu266Ile	coding	Benign/Likely_benign
12	57796539	C	T	C57796539T	TSFM	NM_005726.6(TSFM):c.934C>T:p.Arg312Trp	coding	Pathogenic
12	57797541	C	G	C57797541G	TSFM	NM_005726.6(TSFM):c.*958C>G	coding	Benign
12	57797580	G	C	G57797580C	TSFM	NM_005726.6(TSFM):c.*997G>C	coding	Benign
12	57801221	A	G	A57801221G	AVIL	NM_006576.3(AVIL):c.2152-9T>C	noncoding	Benign
12	57807346	C	T	C57807346T	AVIL	NM_006576.3(AVIL):c.1476G>A:p.Lys492=	coding	Benign
12	57807485	C	T	C57807485T	AVIL	NM_006576.3(AVIL):c.1337G>A:p.Arg446His	coding	Pathogenic
12	57807649	G	T	G57807649T	AVIL	NM_006576.3(AVIL):c.1273C>A:p.Leu425Met	coding	Pathogenic
12	57808524	G	A	G57808524A	AVIL	NM_006576.3(AVIL):c.964C>T:p.Pro322Ser	coding	Benign
12	57811062	C	T	C57811062T	AVIL	NM_006576.3(AVIL):c.404G>A:p.Arg135Gln	coding	Pathogenic
12	57816005	G	A	G57816005A	AVIL	NM_006576.3(AVIL):c.36C>T:p.Asn12=	coding	Benign
12	58876446	A	T	A58876446T	LRIG3	NM_153377.4(LRIG3):c.2694T>A:p.Ser898Arg	coding	Benign
12	59704906	A	G	A59704906G	SLC16A7	NM_001270623.2(SLC16A7):c.105A>G:p.Ala35=	coding	Benign
12	59774897	A	G	A59774897G	SLC16A7	NM_001270623.2(SLC16A7):c.602A>G:p.Asn201Ser	coding	Benign
12	62801959	T	G	T62801959G	PPM1H	NM_020700.2(PPM1H):c.613A>C:p.Thr205Pro	coding	Benign
12	63149913	G	T	G63149913T	AVPR1A	NM_000706.5(AVPR1A):c.924C>A:p.Phe308Leu	coding	Benign
12	63150084	C	G	C63150084G	AVPR1A	NM_000706.5(AVPR1A):c.753G>C:p.Thr251=	coding	Benign
12	63569312	T	A	T63569312A	DPY19L2	NM_173812.5(DPY19L2):c.2038A>T:p.Lys680Ter	coding	Pathogenic
12	63617303	C	T	C63617303T	DPY19L2	NM_173812.5(DPY19L2):c.1218+1G>A	noncoding	Pathogenic
12	63624101	G	A	G63624101A	DPY19L2	NM_173812.5(DPY19L2):c.892C>T:p.Arg298Cys	coding	Pathogenic
12	63624124	C	T	C63624124T	DPY19L2	NM_173812.5(DPY19L2):c.869G>A:p.Arg290His	coding	Pathogenic
12	63668102	C	A	C63668102A	DPY19L2	NM_173812.5(DPY19L2):c.292G>T:p.Glu98Ter	coding	Benign
12	63779870	G	A	G63779870A	RXYLT1	NC_000012.12:g.63779870G>A	noncoding	Benign
12	63780027	G	A	G63780027A	RXYLT1	NM_014254.3(RXYLT1):c.67G>A:p.Ala23Thr	coding	Benign
12	63781143	C	T	C63781143T	RXYLT1	NM_014254.3(RXYLT1):c.294C>T:p.Leu98=	coding	Benign/Likely_benign
12	63802131	G	A	G63802131A	RXYLT1	NM_014254.3(RXYLT1):c.469G>A:p.Val157Ile	coding	Benign
12	63802265	C	T	C63802265T	RXYLT1	NM_014254.3(RXYLT1):c.603C>T:p.Leu201=	coding	Benign
12	63805315	G	A	G63805315A	RXYLT1	NM_014254.3(RXYLT1):c.825G>A:p.Thr275=	coding	Benign/Likely_benign
12	63808757	G	A	G63808757A	RXYLT1	NM_014254.3(RXYLT1):c.997G>A:p.Gly333Arg	coding	Pathogenic
12	63808778	C	T	C63808778T	RXYLT1	NM_014254.3(RXYLT1):c.1018C>T:p.Arg340Ter	coding	Pathogenic
12	63808986	A	G	A63808986G	RXYLT1	NM_014254.3(RXYLT1):c.1226A>G:p.Glu409Gly	coding	Benign
12	63809110	C	G	C63809110G	RXYLT1	NM_014254.3(RXYLT1):c.*18C>G	noncoding	Benign
12	64016970	A	C	A64016970C	SRGAP1	NM_020762.4(SRGAP1):c.447A>C:p.Gln149His	coding	Pathogenic
12	64043443	C	G	C64043443G	SRGAP1	NM_020762.4(SRGAP1):c.673-4C>G	noncoding	Benign
12	64062938	G	A	G64062938A	SRGAP1	NM_020762.4(SRGAP1):c.823G>A:p.Ala275Thr	coding	Pathogenic
12	64065207	C	T	C64065207T	SRGAP1	NM_020762.4(SRGAP1):c.1113C>T:p.Ile371=	coding	Benign
12	64078930	G	A	G64078930A	SRGAP1	NM_020762.4(SRGAP1):c.1137G>A:p.Thr379=	coding	Benign
12	64094922	C	T	C64094922T	SRGAP1	NM_020762.4(SRGAP1):c.1540-10C>T	noncoding	Benign
12	64126056	C	T	C64126056T	SRGAP1	NM_020762.4(SRGAP1):c.2304C>T:p.Ala768=	coding	Benign
12	64126110	C	T	C64126110T	SRGAP1	NM_020762.4(SRGAP1):c.2358C>T:p.Asn786=	coding	Benign
12	64127599	G	A	G64127599A	SRGAP1	NM_020762.4(SRGAP1):c.2415G>A:p.Thr805=	coding	Benign
12	64127944	A	G	A64127944G	SRGAP1	NM_020762.4(SRGAP1):c.2624A>G:p.His875Arg	coding	Benign
12	64128092	C	T	C64128092T	SRGAP1	NM_020762.4(SRGAP1):c.2772C>T:p.His924=	coding	Benign
12	64128177	C	G	C64128177G	SRGAP1	NM_020762.4(SRGAP1):c.2857C>G:p.Leu953Val	coding	Benign
12	64142498	G	A	G64142498A	SRGAP1	NM_020762.4(SRGAP1):c.3084G>A:p.Thr1028=	coding	Benign
12	64193904	C	G	C64193904G	C12orf66	NM_152440.5(C12orf66):c.1276G>C:p.Val426Leu	coding	Benign
12	64194115	G	A	G64194115A	C12orf66	NM_152440.5(C12orf66):c.1065C>T:p.Asp355=	coding	Benign
12	64215782	T	C	T64215782C	C12orf66	NM_152440.5(C12orf66):c.417A>G:p.Ile139Met	coding	Benign
12	64455879	C	T	C64455879T	TBK1	NM_013254.4(TBK1):c.9C>T:p.Ser3=	coding	Benign
12	64455936	T	C	T64455936C	TBK1	NM_013254.4(TBK1):c.66T>C:p.Asn22=	coding	Benign
12	64455957	G	A	G64455957A	TBK1	NM_013254.4(TBK1):c.87G>A:p.Lys29=	coding	Pathogenic
12	64460209	T	C	T64460209C	TBK1	NM_013254.4(TBK1):c.108T>C:p.Ala36=	coding	Benign
12	64460236	C	T	C64460236T	TBK1	NM_013254.4(TBK1):c.135C>T:p.Phe45=	coding	Benign
12	64466969	C	T	C64466969T	TBK1	NM_013254.4(TBK1):c.427C>T:p.Arg143Cys	coding	Pathogenic
12	64467061	G	A	G64467061A	TBK1	NM_013254.4(TBK1):c.519G>A:p.Leu173=	coding	Benign
12	64474319	A	T	A64474319T	TBK1	NM_013254.4(TBK1):c.630A>T:p.Thr210=	coding	Benign
12	64481945	C	A	C64481945A	TBK1	NM_013254.4(TBK1):c.916C>A:p.Leu306Ile	coding	Benign
12	64481951	C	T	C64481951T	TBK1	NM_013254.4(TBK1):c.922C>T:p.Arg308Ter	coding	Pathogenic
12	64482007	T	A	T64482007A	TBK1	NM_013254.4(TBK1):c.978T>A:p.Ile326=	coding	Benign
12	64482022	G	A	G64482022A	TBK1	NM_013254.4(TBK1):c.992+1G>A	coding	Pathogenic
12	64484379	C	T	C64484379T	TBK1	NM_013254.4(TBK1):c.1069C>T:p.Arg357Ter	coding	Pathogenic
12	64484420	C	T	C64484420T	TBK1	NM_013254.4(TBK1):c.1110C>T:p.Phe370=	coding	Benign
12	64484509	G	A	G64484509A	TBK1	NM_013254.4(TBK1):c.1189+10G>A	noncoding	Benign
12	64485466	A	G	A64485466G	TBK1	NM_013254.4(TBK1):c.1201A>G:p.Lys401Glu	coding	Pathogenic
12	64485492	C	T	C64485492T	TBK1	NM_013254.4(TBK1):c.1227C>T:p.Asp409=	coding	Benign
12	64486018	G	A	G64486018A	TBK1	NM_013254.4(TBK1):c.1340+1G>A	coding	Pathogenic
12	64488537	T	C	T64488537C	TBK1	NM_013254.4(TBK1):c.1391T>C:p.Val464Ala	coding	Benign
12	64495483	C	A	C64495483A	TBK1	NM_013254.4(TBK1):c.1522C>A:p.Leu508Ile	coding	Benign
12	64497027	G	T	G64497027T	TBK1	NM_013254.4(TBK1):c.1839G>T:p.Leu613Phe	coding	Benign
12	64497638	G	T	G64497638T	TBK1	NM_013254.4(TBK1):c.1960-10G>T	noncoding	Benign/Likely_benign
12	64497987	G	A	G64497987A	TBK1	NM_013254.4(TBK1):c.2086G>A:p.Glu696Lys	coding	Pathogenic
12	64498041	T	C	T64498041C	TBK1	NM_013254.4(TBK1):c.2138+2T>C	noncoding	Pathogenic
12	64501319	G	A	G64501319A	TBK1	NM_013254.4(TBK1):c.2139-11G>A	noncoding	Benign
12	64714380	G	C	G64714380C	GNS	NM_002076.4(GNS):c.*2361C>G	noncoding	Benign
12	64714751	T	C	T64714751C	GNS	NM_002076.4(GNS):c.*1990A>G	noncoding	Benign
12	64715093	G	A	G64715093A	GNS	NM_002076.4(GNS):c.*1648C>T	noncoding	Benign
12	64715285	G	A	G64715285A	GNS	NM_002076.4(GNS):c.*1456C>T	noncoding	Benign
12	64715799	T	C	T64715799C	GNS	NM_002076.4(GNS):c.*942A>G	noncoding	Benign
12	64715927	A	G	A64715927G	GNS	NM_002076.4(GNS):c.*814T>C	noncoding	Benign
12	64716175	T	C	T64716175C	GNS	NM_002076.4(GNS):c.*566A>G	noncoding	Benign
12	64716330	C	T	C64716330T	GNS	NM_002076.4(GNS):c.*411G>A	noncoding	Benign
12	64716361	G	A	G64716361A	GNS	NM_002076.4(GNS):c.*380C>T	noncoding	Benign
12	64716472	G	A	G64716472A	GNS	NM_002076.4(GNS):c.*269C>T	noncoding	Benign
12	64716750	A	G	A64716750G	GNS	NM_002076.4(GNS):c.1650T>C:p.His550=	coding	Benign
12	64716802	C	T	C64716802T	GNS	NM_002076.4(GNS):c.1598G>A:p.Arg533His	coding	Benign
12	64728988	G	A	G64728988A	GNS	NM_002076.4(GNS):c.1168C>T:p.Gln390Ter	coding	Pathogenic
12	64729043	G	A	G64729043A	GNS	NM_002076.4(GNS):c.1113C>T:p.Asn371=	coding	Benign
12	64737039	G	A	G64737039A	GNS	NM_002076.4(GNS):c.1063C>T:p.Arg355Ter	coding	Pathogenic
12	64737076	C	T	C64737076T	GNS	NM_002076.4(GNS):c.1026G>A:p.Gln342=	coding	Benign/Likely_benign
12	64740667	G	A	G64740667A	GNS	NM_002076.4(GNS):c.814C>T:p.Gln272Ter	coding	Pathogenic
12	64747698	A	G	A64747698G	GNS	NM_002076.4(GNS):c.459+14T>C	noncoding	Benign
12	64747808	C	T	C64747808T	GNS	NM_002076.4(GNS):c.363G>A:p.Lys121=	coding	Benign
12	64752752	C	T	C64752752T	GNS	NM_002076.4(GNS):c.198G>A:p.Pro66=	coding	Benign
12	64752766	G	A	G64752766A	GNS	NM_002076.4(GNS):c.193-9C>T	noncoding	Benign
12	64759256	G	C	G64759256C	GNS	NM_002076.4(GNS):c.21C>G:p.Ala7=	coding	Benign
12	64866757	T	A	T64866757A	TBC1D30	NM_015279.2(TBC1D30):c.1152-7T>A	noncoding	Benign
12	65051385	C	T	C65051385T	WIF1	NM_007191.5(WIF1):c.1104G>A:p.Glu368=	coding	Benign
12	65051408	G	T	G65051408T	WIF1	NM_007191.5(WIF1):c.1081C>A:p.Pro361Thr	coding	Benign
12	65120461	C	G	C65120461G	WIF1	NM_007191.5(WIF1):c.244G>C:p.Val82Leu	coding	Benign
12	65169932	C	T	C65169932T	LEMD3	NM_014319.5(LEMD3):c.336C>T:p.Ala112=	coding	Benign
12	65169974	C	T	C65169974T	LEMD3	NM_014319.5(LEMD3):c.378C>T:p.Ser126=	coding	Benign
12	65170053	C	T	C65170053T	LEMD3	NM_014319.5(LEMD3):c.457C>T:p.Gln153Ter	coding	Pathogenic
12	65170544	C	T	C65170544T	LEMD3	NM_014319.5(LEMD3):c.948C>T:p.Leu316=	coding	Benign
12	65170946	A	G	A65170946G	LEMD3	NM_014319.5(LEMD3):c.1350A>G:p.Glu450=	coding	Benign/Likely_benign
12	65171119	G	A	G65171119A	LEMD3	NM_014319.5(LEMD3):c.1522+1G>A	coding	Pathogenic
12	65210914	C	T	C65210914T	LEMD3	NM_014319.5(LEMD3):c.1523-12C>T	noncoding	Benign
12	65210973	C	T	C65210973T	LEMD3	NM_014319.5(LEMD3):c.1560+10C>T	noncoding	Benign
12	65218541	A	C	A65218541C	LEMD3	NM_014319.5(LEMD3):c.1628-11A>C	noncoding	Benign
12	65218627	A	G	A65218627G	LEMD3	NM_014319.5(LEMD3):c.1695+8A>G	noncoding	Benign
12	65238552	C	T	C65238552T	LEMD3	NM_014319.5(LEMD3):c.1746C>T:p.Ile582=	coding	Benign/Likely_benign
12	65238694	G	T	G65238694T	LEMD3	NM_014319.5(LEMD3):c.1801G>T:p.Glu601Ter	coding	Pathogenic
12	65238766	C	T	C65238766T	LEMD3	NM_014319.5(LEMD3):c.1873C>T:p.Arg625Ter	coding	Pathogenic
12	65239970	C	T	C65239970T	LEMD3	NM_014319.5(LEMD3):c.1963C>T:p.Arg655Ter	coding	Pathogenic
12	65241091	T	C	T65241091C	LEMD3	NM_014319.5(LEMD3):c.2305+4T>C	noncoding	Benign
12	65245662	C	T	C65245662T	LEMD3	NM_014319.5(LEMD3):c.2388-7C>T	noncoding	Benign
12	65245931	G	A	G65245931A	LEMD3	NM_014319.5(LEMD3):c.2564G>A:p.Trp855Ter	coding	Pathogenic
12	65246226	C	T	C65246226T	LEMD3	NM_014319.5(LEMD3):c.2637C>T:p.Leu879=	coding	Benign
12	65246228	C	G	C65246228G	LEMD3	NM_014319.5(LEMD3):c.2639C>G:p.Thr880Ser	coding	Pathogenic
12	65246247	G	A	G65246247A	LEMD3	NM_014319.5(LEMD3):c.2658G>A:p.Lys886=	coding	Benign
12	65246550	A	G	A65246550G	LEMD3	NM_014319.5(LEMD3):c.*225A>G	noncoding	Benign
12	65246801	C	T	C65246801T	LEMD3	NM_014319.5(LEMD3):c.*476C>T	noncoding	Benign
12	65246980	C	T	C65246980T	LEMD3	NM_014319.5(LEMD3):c.*655C>T	noncoding	Benign
12	65247209	A	G	A65247209G	LEMD3	NM_014319.5(LEMD3):c.*884A>G	noncoding	Benign
12	65247220	T	C	T65247220C	LEMD3	NM_014319.5(LEMD3):c.*895T>C	noncoding	Benign
12	65247227	G	A	G65247227A	LEMD3	NM_014319.5(LEMD3):c.*902G>A	noncoding	Benign
12	65247240	G	T	G65247240T	LEMD3	NM_014319.5(LEMD3):c.*915G>T	noncoding	Benign
12	65247481	G	A	G65247481A	LEMD3	NM_014319.5(LEMD3):c.*1156G>A	noncoding	Benign
12	65247806	C	T	C65247806T	LEMD3	NM_014319.5(LEMD3):c.*1481C>T	noncoding	Benign
12	65247960	G	A	G65247960A	LEMD3	NM_014319.5(LEMD3):c.*1635G>A	noncoding	Benign
12	65248205	C	T	C65248205T	LEMD3	NM_014319.5(LEMD3):c.*1880C>T	noncoding	Benign
12	65248226	G	A	G65248226A	LEMD3	NM_014319.5(LEMD3):c.*1901G>A	noncoding	Benign
12	65248276	C	T	C65248276T	LEMD3	NM_014319.5(LEMD3):c.*1951C>T	noncoding	Benign
12	65278778	C	A	C65278778A	MSRB3	NM_001031679.3(MSRB3):c.-139C>A	coding	Benign
12	65278799	C	T	C65278799T	MSRB3	NM_001031679.3(MSRB3):c.-118C>T	coding	Benign
12	65308634	C	T	C65308634T	MSRB3	NM_001031679.3(MSRB3):c.55C>T:p.Arg19Ter	coding	Pathogenic
12	65326929	C	T	C65326929T	MSRB3	NM_001031679.3(MSRB3):c.180C>T:p.Thr60=	coding	Benign/Likely_benign
12	65328584	T	G	T65328584G	MSRB3	NM_001031679.3(MSRB3):c.244T>G:p.Cys82Gly	coding	Pathogenic
12	65369037	A	G	A65369037G	MSRB3	NM_001031679.3(MSRB3):c.292+11A>G	noncoding	Benign
12	65453722	T	C	T65453722C	MSRB3	NM_001031679.3(MSRB3):c.293-6T>C	noncoding	Benign
12	65453792	T	C	T65453792C	MSRB3	NM_001031679.3(MSRB3):c.357T>C:p.Tyr119=	coding	Benign
12	65463154	G	A	G65463154A	MSRB3	NM_001031679.3(MSRB3):c.391-1G>A	noncoding	Pathogenic
12	65463250	G	A	G65463250A	MSRB3	NM_001031679.3(MSRB3):c.486G>A:p.Ala162=	coding	Benign/Likely_benign
12	65463295	G	A	G65463295A	MSRB3	NM_001031679.3(MSRB3):c.531G>A:p.Pro177=	coding	Benign
12	65828082	C	T	C65828082T	HMGA2	NM_003483.4(HMGA2):c.193C>T:p.Gln65Ter	coding	Pathogenic
12	65838511	A	G	A65838511G	HMGA2	NM_003483.4(HMGA2):c.199-8A>G	noncoding	Benign
12	66210200	A	G	A66210200G	IRAK3	NM_007199.3(IRAK3):c.435A>G:p.Lys145=	coding	Benign
12	66211477	A	G	A66211477G	IRAK3	NM_007199.3(IRAK3):c.468A>G:p.Gln156=	coding	Benign
12	66309727	C	T	C66309727T	HELB	NM_001370285.1(HELB):c.799C>T:p.Leu267Phe	coding	Benign
12	66310388	G	A	G66310388A	HELB	NM_001370285.1(HELB):c.1460G>A:p.Arg487His	coding	Benign
12	66315325	A	G	A66315325G	HELB	NM_001370285.1(HELB):c.1942A>G:p.Ile648Val	coding	Benign
12	66331486	C	T	C66331486T	HELB	NM_001370285.1(HELB):c.3003C>T:p.Ser1001=	coding	Benign
12	66331521	T	C	T66331521C	HELB	NM_001370285.1(HELB):c.3038T>C:p.Phe1013Ser	coding	Benign
12	66348403	A	G	A66348403G	GRIP1	NM_021150.4(GRIP1):c.*616T>C	noncoding	Benign
12	66348591	G	A	G66348591A	GRIP1	NM_021150.4(GRIP1):c.*428C>T	noncoding	Benign
12	66371826	C	T	C66371826T	GRIP1	NM_021150.4(GRIP1):c.2724G>A:p.Ser908=	coding	Benign
12	66379295	C	T	C66379295T	GRIP1	NM_001366722.1(GRIP1):c.2606G>A:p.Arg869Gln	coding	Benign/Likely_benign
12	66392293	A	G	A66392293G	GRIP1	NM_021150.4(GRIP1):c.2308+15T>C	noncoding	Benign
12	66392311	G	C	G66392311C	GRIP1	NM_021150.4(GRIP1):c.2305C>G:p.Gln769Glu	coding	Benign
12	66392489	C	T	C66392489T	GRIP1	NM_021150.4(GRIP1):c.2127G>A:p.Ser709=	coding	Benign/Likely_benign
12	66392676	C	G	C66392676G	GRIP1	NM_021150.4(GRIP1):c.2113+1G>C	noncoding	Pathogenic
12	66406337	G	A	G66406337A	GRIP1	NM_021150.4(GRIP1):c.1774C>T:p.Gln592Ter	coding	Pathogenic
12	66420707	C	A	C66420707A	GRIP1	NM_021150.4(GRIP1):c.1682+13G>T	noncoding	Benign
12	66420771	G	C	G66420771C	GRIP1	NM_021150.4(GRIP1):c.1631C>G:p.Pro544Arg	coding	Benign/Likely_benign
12	66432631	A	G	A66432631G	GRIP1	NM_021150.4(GRIP1):c.1532-3T>C	noncoding	Benign/Likely_benign
12	66455571	G	C	G66455571C	GRIP1	NM_001366722.1(GRIP1):c.1199-7C>G	noncoding	Benign/Likely_benign
12	66463002	C	T	C66463002T	GRIP1	NM_021150.4(GRIP1):c.964G>A:p.Ala322Thr	coding	Benign
12	66515609	C	T	C66515609T	GRIP1	NM_021150.4(GRIP1):c.724+10G>A	noncoding	Benign
12	66515651	G	A	G66515651A	GRIP1	NM_001366722.1(GRIP1):c.692C>T:p.Ala231Val	coding	Benign
12	66517991	G	T	G66517991T	GRIP1	NM_021150.4(GRIP1):c.503-15C>A	noncoding	Benign
12	67649166	C	T	C67649166T	DYRK2	NM_006482.3(DYRK2):c.33C>T:p.Pro11=	coding	Benign
12	68154814	T	C	T68154814C	IFNG	NM_000619.3(IFNG):c.*539A>G	noncoding	Benign
12	68155173	G	A	G68155173A	IFNG	NM_000619.3(IFNG):c.*180C>T	noncoding	Benign
12	68225670	G	A	G68225670A	IL26	NM_018402.2(IL26):c.87C>T:p.Thr29=	coding	Benign
12	68248867	T	C	T68248867C	IL22	NM_020525.5(IL22):c.472A>G:p.Ser158Gly	coding	Benign
12	68654177	C	T	C68654177T	RAP1B	NM_001010942.3(RAP1B):c.249C>T:p.Ser83=	coding	Benign
12	68690746	G	A	G68690746A	NUP107	NM_020401.4(NUP107):c.303G>A:p.Met101Ile	coding	Pathogenic
12	68692021	C	T	C68692021T	NUP107	NM_020401.4(NUP107):c.357C>T:p.Ser119=	coding	Benign
12	68696839	G	T	G68696839T	NUP107	NM_020401.4(NUP107):c.469G>T:p.Asp157Tyr	coding	Pathogenic
12	68696889	T	C	T68696889C	NUP107	NM_020401.4(NUP107):c.519T>C:p.Leu173=	coding	Benign
12	68713809	G	A	G68713809A	NUP107	NM_020401.4(NUP107):c.969+1G>A	coding	Pathogenic
12	68719404	C	T	C68719404T	NUP107	NM_020401.4(NUP107):c.1147C>T:p.Leu383=	coding	Benign
12	68721854	G	A	G68721854A	NUP107	NM_020401.4(NUP107):c.1325G>A:p.Cys442Tyr	coding	Pathogenic
12	68721868	G	A	G68721868A	NUP107	NM_020401.4(NUP107):c.1339G>A:p.Asp447Asn	coding	Pathogenic
12	68731101	A	G	A68731101G	NUP107	NM_020401.4(NUP107):c.1735-9A>G	noncoding	Benign
12	68735334	A	C	A68735334C	NUP107	NM_020401.4(NUP107):c.2492A>C:p.Asp831Ala	coding	Pathogenic
12	68813544	C	A	C68813544A	MDM2	NM_002392.5(MDM2):c.100-10C>A	noncoding	Benign
12	68828854	C	T	C68828854T	MDM2	NM_002392.5(MDM2):c.607C>T:p.Leu203=	coding	Benign
12	68839847	T	C	T68839847C	MDM2	NM_002392.5(MDM2):c.1492T>C:p.Ter498Gln	coding	Pathogenic
12	69348408	C	T	C69348408T	LYZ	NM_000239.2(LYZ):c.-1C>T	noncoding	Benign
12	69348418	C	G	C69348418G	LYZ	NM_000239.3(LYZ):c.10C>G:p.Leu4Val	coding	Benign
12	69350122	A	T	A69350122T	LYZ	NM_000239.3(LYZ):c.151A>T:p.Lys51Ter	coding	Benign
12	69350170	G	C	G69350170C	LYZ	NM_000239.2(LYZ):c.199G>C:p.Asp67His	coding	Pathogenic
12	69350192	T	C	T69350192C	LYZ	NM_000239.2(LYZ):c.221T>C:p.Ile74Thr	coding	Pathogenic
12	69350194	T	A	T69350194A	LYZ	NM_000239.2(LYZ):c.223T>A:p.Phe75Ile	coding	Pathogenic
12	69350215	T	A	T69350215A	LYZ	NM_000239.2(LYZ):c.244T>A:p.Trp82Arg	coding	Pathogenic
12	69350215	T	C	T69350215C	LYZ	NM_000239.2(LYZ):c.244T>C:p.Trp82Arg	coding	Pathogenic
12	69350234	C	A	C69350234A	LYZ	NM_000239.2(LYZ):c.263C>A:p.Thr88Asn	coding	Benign/Likely_benign
12	69353187	G	C	G69353187C	LYZ	NM_000239.2(LYZ):c.415G>C:p.Val139Leu	coding	Benign
12	69353388	G	A	G69353388A	LYZ	NM_000239.2(LYZ):c.*169G>A	noncoding	Benign
12	69353397	C	T	C69353397T	LYZ	NM_000239.2(LYZ):c.*178C>T	noncoding	Benign
12	69353410	A	G	A69353410G	LYZ	NM_000239.2(LYZ):c.*191A>G	noncoding	Benign
12	69353485	G	A	G69353485A	LYZ	NM_000239.3(LYZ):c.*266G>A	noncoding	Benign
12	69353632	G	T	G69353632T	LYZ	NM_000239.3(LYZ):c.*413G>T	noncoding	Benign
12	69353634	G	A	G69353634A	LYZ	NM_000239.2(LYZ):c.*415G>A	noncoding	Benign
12	69353637	C	A	C69353637A	LYZ	NM_000239.2(LYZ):c.*418C>A	noncoding	Benign
12	69353680	G	A	G69353680A	LYZ	NM_000239.2(LYZ):c.*461G>A	noncoding	Benign
12	69353874	G	T	G69353874T	LYZ	NM_000239.2(LYZ):c.*655G>T	noncoding	Benign
12	69354054	C	T	C69354054T	LYZ	NM_000239.2(LYZ):c.*835C>T	noncoding	Benign
12	69354109	T	C	T69354109C	LYZ	NM_000239.2(LYZ):c.*890T>C	noncoding	Benign
12	69610071	C	T	C69610071T	LRRC10	NM_201550.4(LRRC10):c.768G>A:p.Ala256=	coding	Benign
12	69610255	A	G	A69610255G	LRRC10	NM_201550.4(LRRC10):c.584T>C:p.Ile195Thr	coding	Benign
12	69610318	A	G	A69610318G	LRRC10	NM_201550.4(LRRC10):c.521T>C:p.Leu174Pro	coding	Benign
12	69610386	G	A	G69610386A	LRRC10	NM_201550.4(LRRC10):c.453C>T:p.Ala151=	coding	Benign
12	69610479	G	A	G69610479A	LRRC10	NM_201550.4(LRRC10):c.360C>T:p.Leu120=	coding	Benign
12	69610491	C	T	C69610491T	LRRC10	NM_201550.4(LRRC10):c.348G>A:p.Glu116=	coding	Benign
12	69610633	G	A	G69610633A	LRRC10	NM_201550.4(LRRC10):c.206C>T:p.Pro69Leu	coding	Benign
12	70338488	A	T	A70338488T	CNOT2	NM_014515.6(CNOT2):c.946A>T:p.Lys316Ter	coding	Pathogenic
12	70544603	T	C	T70544603C	PTPRB	NM_001109754.4(PTPRB):c.5448A>G:p.Pro1816=	coding	Benign
12	70555206	G	C	G70555206C	PTPRB	NM_001109754.4(PTPRB):c.5097C>G:p.Thr1699=	coding	Benign
12	70569885	G	A	G70569885A	PTPRB	NM_001109754.4(PTPRB):c.3424C>T:p.Leu1142=	coding	Benign
12	70571022	T	C	T70571022C	PTPRB	NM_001109754.4(PTPRB):c.3370+4A>G	noncoding	Benign
12	70764673	G	A	G70764673A	PTPRR	NM_002849.4(PTPRR):c.463C>T:p.Arg155Cys	coding	Benign
12	71125393	G	A	G71125393A	TSPAN8	NM_004616.3(TSPAN8):c.661-6C>T	noncoding	Benign
12	71139714	C	T	C71139714T	TSPAN8	NM_004616.3(TSPAN8):c.258G>A:p.Leu86=	coding	Benign
12	71139801	G	A	G71139801A	TSPAN8	NM_004616.3(TSPAN8):c.171C>T:p.Asp57=	coding	Benign
12	71139812	C	T	C71139812T	TSPAN8	NM_004616.3(TSPAN8):c.160G>A:p.Val54Ile	coding	Benign
12	71144171	C	T	C71144171T	TSPAN8	NM_004616.3(TSPAN8):c.103G>A:p.Val35Ile	coding	Benign
12	71577986	C	G	C71577986G	LGR5	NM_003667.4(LGR5):c.1270C>G:p.Leu424Val	coding	Benign
12	71578805	G	A	G71578805A	LGR5	NM_003667.4(LGR5):c.1282G>A:p.Asp428Asn	coding	Benign
12	71578813	G	T	G71578813T	LGR5	NM_003667.4(LGR5):c.1290G>T:p.Ser430=	coding	Benign
12	71584351	C	G	C71584351G	LGR5	NM_003667.4(LGR5):c.2341C>G:p.Pro781Ala	coding	Benign
12	71615271	T	C	T71615271C	ZFC3H1	NM_144982.5(ZFC3H1):c.5190A>G:p.Leu1730=	coding	Benign
12	71626323	G	A	G71626323A	ZFC3H1	NM_144982.5(ZFC3H1):c.4254C>T:p.Asp1418=	coding	Benign
12	71628928	T	C	T71628928C	ZFC3H1	NM_144982.5(ZFC3H1):c.3936A>G:p.Pro1312=	coding	Benign
12	71630825	T	C	T71630825C	ZFC3H1	NM_144982.5(ZFC3H1):c.3600A>G:p.Gln1200=	coding	Benign
12	71630882	C	G	C71630882G	ZFC3H1	NM_144982.5(ZFC3H1):c.3543G>C:p.Pro1181=	coding	Benign
12	71634147	A	C	A71634147C	ZFC3H1	NM_144982.5(ZFC3H1):c.2510+8T>G	noncoding	Benign
12	71634301	A	T	A71634301T	ZFC3H1	NM_144982.5(ZFC3H1):c.2364T>A:p.Arg788=	coding	Benign
12	71636544	C	T	C71636544T	ZFC3H1	NM_144982.5(ZFC3H1):c.2046G>A:p.Arg682=	coding	Benign
12	71696504	T	A	T71696504A	TMEM19	NM_018279.4(TMEM19):c.313T>A:p.Leu105Met	coding	Benign
12	71700847	C	G	C71700847G	TMEM19	NM_018279.4(TMEM19):c.863C>G:p.Thr288Ser	coding	Benign
12	71785631	T	C	T71785631C	RAB21	NM_014999.4(RAB21):c.636T>C:p.Pro212=	coding	Benign
12	71938935	A	G	A71938935G	TPH2	NM_173353.4(TPH2):c.-52A>G	noncoding	Benign
12	71941584	C	G	C71941584G	TPH2	NM_173353.4(TPH2):c.106C>G:p.Leu36Val	coding	Benign/Likely_benign
12	71944686	A	G	A71944686G	TPH2	NM_173353.4(TPH2):c.540A>G:p.Pro180=	coding	Benign/Likely_benign
12	71972546	T	C	T71972546C	TPH2	NM_173353.4(TPH2):c.636T>C:p.Tyr212=	coding	Benign
12	71979082	A	G	A71979082G	TPH2	NM_173353.4(TPH2):c.936A>G:p.Pro312=	coding	Benign
12	72022455	A	T	A72022455T	TPH2	NM_173353.4(TPH2):c.1125A>T:p.Ala375=	coding	Benign
12	72032174	G	A	G72032174A	TPH2	NM_173353.4(TPH2):c.*479G>A	noncoding	Benign
12	72273276	G	A	G72273276A	TRHDE	NM_013381.2(TRHDE):c.498G>A:p.Glu166=	coding	Benign
12	72621104	T	C	T72621104C	TRHDE	NM_013381.2(TRHDE):c.2335-4T>C	noncoding	Benign
12	72652349	A	C	A72652349C	TRHDE	NM_013381.2(TRHDE):c.2568A>C:p.Val856=	coding	Benign
12	75050859	A	G	A75050859G	KCNC2	NM_139137.4(KCNC2):c.1146T>C:p.Phe382=	coding	Benign
12	75304855	C	T	C75304855T	CAPS2	NM_032606.5(CAPS2):c.738G>A:p.Glu246=	coding	Benign
12	75316434	A	G	A75316434G	CAPS2	NM_032606.5(CAPS2):c.526T>C:p.Cys176Arg	coding	Benign
12	75323198	G	A	G75323198A	CAPS2	NM_032606.5(CAPS2):c.213C>T:p.Ser71=	coding	Benign
12	75481887	G	A	G75481887A	GLIPR1	NM_006851.3(GLIPR1):c.228G>A:p.Gln76=	coding	Benign
12	75481929	C	T	C75481929T	GLIPR1	NM_006851.3(GLIPR1):c.270C>T:p.His90=	coding	Benign
12	75495572	T	C	T75495572C	GLIPR1	NM_006851.3(GLIPR1):c.534-5T>C	noncoding	Benign
12	76344565	T	C	T76344565C	BBS10	NM_024685.4(BBS10):c.*1248A>G	noncoding	Benign
12	76344762	G	A	G76344762A	BBS10	NM_024685.4(BBS10):c.*1051C>T	noncoding	Benign
12	76345008	A	G	A76345008G	BBS10	NM_024685.4(BBS10):c.*805T>C	noncoding	Benign
12	76345044	C	G	C76345044G	BBS10	NM_024685.4(BBS10):c.*769G>C	noncoding	Benign
12	76345181	A	G	A76345181G	BBS10	NM_024685.4(BBS10):c.*632T>C	noncoding	Benign
12	76345315	T	C	T76345315C	BBS10	NM_024685.4(BBS10):c.*498A>G	noncoding	Benign
12	76345726	T	G	T76345726G	BBS10	NM_024685.4(BBS10):c.*87A>C	noncoding	Benign
12	76346114	G	C	G76346114C	BBS10	NM_024685.4(BBS10):c.1871C>G:p.Ser624Ter	coding	Pathogenic
12	76346181	C	G	C76346181G	BBS10	NM_024685.4(BBS10):c.1804G>C:p.Val602Leu	coding	Pathogenic
12	76346218	G	T	G76346218T	BBS10	NM_024685.4(BBS10):c.1767C>A:p.Tyr589Ter	coding	Pathogenic/Likely_pathogenic
12	76346308	G	C	G76346308C	BBS10	NM_024685.4(BBS10):c.1677C>G:p.Tyr559Ter	coding	Pathogenic
12	76346308	G	T	G76346308T	BBS10	NM_024685.4(BBS10):c.1677C>A:p.Tyr559Ter	coding	Pathogenic
12	76346316	T	C	T76346316C	BBS10	NM_024685.4(BBS10):c.1669A>G:p.Ile557Val	coding	Benign/Likely_benign
12	76346354	T	C	T76346354C	BBS10	NM_024685.4(BBS10):c.1631A>G:p.Asn544Ser	coding	Benign/Likely_benign
12	76346369	G	A	G76346369A	BBS10	NM_024685.4(BBS10):c.1616C>T:p.Pro539Leu	coding	Benign
12	76346433	G	A	G76346433A	BBS10	NM_024685.4(BBS10):c.1552C>T:p.Gln518Ter	coding	Pathogenic
12	76346440	A	G	A76346440G	BBS10	NM_024685.4(BBS10):c.1545T>C:p.Asp515=	coding	Benign
12	76346490	C	A	C76346490A	BBS10	NM_024685.4(BBS10):c.1495G>T:p.Glu499Ter	coding	Pathogenic
12	76346578	A	C	A76346578C	BBS10	NM_024685.4(BBS10):c.1407T>G:p.Tyr469Ter	coding	Pathogenic
12	76346594	G	C	G76346594C	BBS10	NM_024685.4(BBS10):c.1391C>G:p.Ser464Ter	coding	Pathogenic/Likely_pathogenic
12	76346720	C	T	C76346720T	BBS10	NM_024685.4(BBS10):c.1265G>A:p.Arg422Gln	coding	Benign
12	76346740	A	G	A76346740G	BBS10	NM_024685.4(BBS10):c.1245T>C:p.His415=	coding	Benign/Likely_benign
12	76346744	A	G	A76346744G	BBS10	NM_024685.4(BBS10):c.1241T>C:p.Leu414Ser	coding	Pathogenic/Likely_pathogenic
12	76346783	C	T	C76346783T	BBS10	NM_024685.4(BBS10):c.1202G>A:p.Gly401Glu	coding	Pathogenic
12	76346842	A	C	A76346842C	BBS10	NM_024685.4(BBS10):c.1143T>G:p.Tyr381Ter	coding	Pathogenic
12	76346911	C	T	C76346911T	BBS10	NM_024685.4(BBS10):c.1074G>A:p.Ser358=	coding	Benign
12	76346969	A	T	A76346969T	BBS10	NM_024685.4(BBS10):c.1016T>A:p.Val339Asp	coding	Pathogenic
12	76346986	A	T	A76346986T	BBS10	NM_024685.4(BBS10):c.999T>A:p.Cys333Ter	coding	Pathogenic
12	76347019	A	G	A76347019G	BBS10	NM_024685.4(BBS10):c.966T>C:p.Tyr322=	coding	Benign
12	76347054	A	C	A76347054C	BBS10	NM_024685.4(BBS10):c.931T>G:p.Ser311Ala	coding	Pathogenic
12	76347135	G	A	G76347135A	BBS10	NM_024685.4(BBS10):c.850C>T:p.Gln284Ter	coding	Pathogenic/Likely_pathogenic
12	76347219	G	A	G76347219A	BBS10	NM_024685.4(BBS10):c.766C>T:p.Arg256Ter	coding	Pathogenic/Likely_pathogenic
12	76347387	T	A	T76347387A	BBS10	NM_024685.4(BBS10):c.598A>T:p.Lys200Ter	coding	Pathogenic
12	76347407	A	G	A76347407G	BBS10	NM_024685.4(BBS10):c.578T>C:p.Leu193Ser	coding	Pathogenic
12	76347454	G	T	G76347454T	BBS10	NM_024685.4(BBS10):c.531C>A:p.Tyr177Ter	coding	Pathogenic
12	76347512	G	T	G76347512T	BBS10	NM_024685.4(BBS10):c.473C>A:p.Ser158Ter	coding	Pathogenic
12	76347561	C	T	C76347561T	BBS10	NM_024685.4(BBS10):c.424G>A:p.Asp142Asn	coding	Benign/Likely_benign
12	76347625	C	T	C76347625T	BBS10	NM_024685.4(BBS10):c.360G>A:p.Trp120Ter	coding	Pathogenic
12	76347712	G	C	G76347712C	BBS10	NM_024685.4(BBS10):c.273C>G:p.Cys91Trp	coding	Pathogenic
12	76347787	C	A	C76347787A	BBS10	NM_024685.4(BBS10):c.198G>T:p.Arg66Ser	coding	Pathogenic
12	76348161	C	A	C76348161A	BBS10	NM_024685.4(BBS10):c.197+1G>T	noncoding	Pathogenic/Likely_pathogenic
12	76348195	A	G	A76348195G	BBS10	NM_024685.4(BBS10):c.164T>C:p.Leu55Pro	coding	Pathogenic/Likely_pathogenic
12	76348214	G	A	G76348214A	BBS10	NM_024685.4(BBS10):c.145C>T:p.Arg49Trp	coding	Pathogenic
12	76348241	T	A	T76348241A	BBS10	NM_024685.4(BBS10):c.118A>T:p.Lys40Ter	coding	Pathogenic
12	76348410	G	A	G76348410A	BBS10	NM_024685.4(BBS10):c.-52C>T	noncoding	Benign
12	77024075	C	T	C77024075T	E2F7	NM_203394.3(E2F7):c.2676G>A:p.Gln892=	coding	Benign
12	77024180	T	G	T77024180G	E2F7	NM_203394.3(E2F7):c.2571A>C:p.Pro857=	coding	Benign
12	77025594	G	A	G77025594A	E2F7	NM_203394.3(E2F7):c.2529C>T:p.Tyr843=	coding	Benign
12	77028089	C	G	C77028089G	E2F7	NM_203394.3(E2F7):c.1934G>C:p.Arg645Thr	coding	Benign
12	77030281	G	A	G77030281A	E2F7	NM_203394.3(E2F7):c.1434C>T:p.Asp478=	coding	Benign
12	77033873	C	T	C77033873T	E2F7	NM_203394.3(E2F7):c.1293G>A:p.Pro431=	coding	Benign
12	77966309	A	G	A77966309G	NAV3	NM_001024383.2(NAV3):c.487+8A>G	noncoding	Benign
12	78006576	C	G	C78006576G	NAV3	NM_001024383.2(NAV3):c.1038C>G:p.Thr346=	coding	Benign
12	78006786	C	T	C78006786T	NAV3	NM_001024383.2(NAV3):c.1248C>T:p.Ala416=	coding	Benign
12	78118197	C	G	C78118197G	NAV3	NM_001024383.2(NAV3):c.2940C>G:p.Ser980=	coding	Benign
12	78137206	C	A	C78137206A	NAV3	NM_001024383.2(NAV3):c.4471C>A:p.Leu1491Ile	coding	Benign
12	78137211	C	T	C78137211T	NAV3	NM_001024383.2(NAV3):c.4476C>T:p.Pro1492=	coding	Benign
12	78168775	A	G	A78168775G	NAV3	NM_001024383.2(NAV3):c.4890A>G:p.Leu1630=	coding	Benign
12	78210477	A	G	A78210477G	NAV3	NM_001024383.2(NAV3):c.7118A>G:p.His2373Arg	coding	Benign
12	79292034	T	C	T79292034C	SYT1	NM_005639.3(SYT1):c.378T>C:p.Thr126=	coding	Benign
12	79353599	T	A	T79353599A	SYT1	NM_005639.3(SYT1):c.908T>A:p.Met303Lys	coding	Pathogenic/Likely_pathogenic
12	79353602	A	G	A79353602G	SYT1	NM_005639.3(SYT1):c.911A>G:p.Asp304Gly	coding	Pathogenic/Likely_pathogenic
12	79448953	C	A	C79448953A	SYT1	NM_005639.3(SYT1):c.1098C>A:p.Asp366Glu	coding	Pathogenic/Likely_pathogenic
12	79448953	C	G	C79448953G	SYT1	NM_005639.3(SYT1):c.1098C>G:p.Asp366Glu	coding	Pathogenic
12	79448958	T	C	T79448958C	SYT1	NM_005639.3(SYT1):c.1103T>C:p.Ile368Thr	coding	Pathogenic/Likely_pathogenic
12	79448968	C	G	C79448968G	SYT1	NM_005639.3(SYT1):c.1113C>G:p.Asn371Lys	coding	Pathogenic/Likely_pathogenic
12	79449013	G	A	G79449013A	SYT1	NM_005639.3(SYT1):c.1158G>A:p.Ala386=	coding	Benign
12	79592625	C	A	C79592625A	PAWR	NM_002583.4(PAWR):c.1005G>T:p.Val335=	coding	Benign
12	79788752	G	A	G79788752A	PPP1R12A	NM_002480.3(PPP1R12A):c.2698C>T:p.Arg900Ter	coding	Pathogenic
12	79795737	C	T	C79795737T	PPP1R12A	NM_002480.3(PPP1R12A):c.2484G>A:p.Glu828=	coding	Benign
12	79807239	T	C	T79807239C	PPP1R12A	NM_002480.3(PPP1R12A):c.1642A>G:p.Thr548Ala	coding	Benign
12	79808523	G	A	G79808523A	PPP1R12A	NM_002480.3(PPP1R12A):c.1510C>T:p.Arg504Ter	coding	Pathogenic
12	79809840	T	G	T79809840G	PPP1R12A	NM_002480.3(PPP1R12A):c.1410A>C:p.Ser470=	coding	Benign
12	79845323	G	A	G79845323A	PPP1R12A	NM_002480.3(PPP1R12A):c.466C>T:p.Gln156Ter	coding	Pathogenic
12	80210860	A	G	A80210860G	OTOGL	NM_173591.3(OTOGL):c.66A>G:p.Ala22=	coding	Benign
12	80222099	A	C	A80222099C	OTOGL	NM_173591.3(OTOGL):c.316A>C:p.Met106Leu	coding	Benign/Likely_benign
12	80229286	G	A	G80229286A	OTOGL	NM_173591.3(OTOGL):c.492G>A:p.Ser164=	coding	Benign/Likely_benign
12	80229341	C	T	C80229341T	OTOGL	NM_173591.3(OTOGL):c.547C>T:p.Arg183Ter	coding	Pathogenic
12	80232988	C	T	C80232988T	OTOGL	NM_173591.3(OTOGL):c.681C>T:p.Asp227=	coding	Benign
12	80238950	C	T	C80238950T	OTOGL	NM_173591.3(OTOGL):c.890C>T:p.Pro297Leu	coding	Benign/Likely_benign
12	80238951	G	A	G80238951A	OTOGL	NM_173591.3(OTOGL):c.891G>A:p.Pro297=	coding	Benign
12	80238962	G	A	G80238962A	OTOGL	NM_173591.3(OTOGL):c.902G>A:p.Gly301Glu	coding	Benign/Likely_benign
12	80251766	A	G	A80251766G	OTOGL	NM_173591.3(OTOGL):c.1099A>G:p.Ile367Val	coding	Benign
12	80251813	T	C	T80251813C	OTOGL	NM_173591.3(OTOGL):c.1132+14T>C	noncoding	Benign
12	80253530	A	G	A80253530G	OTOGL	NM_173591.3(OTOGL):c.1323A>G:p.Leu441=	coding	Benign
12	80254512	A	G	A80254512G	OTOGL	NM_173591.3(OTOGL):c.1368-12A>G	noncoding	Benign
12	80254580	T	A	T80254580A	OTOGL	NM_173591.3(OTOGL):c.1414+10T>A	noncoding	Benign
12	80255183	C	T	C80255183T	OTOGL	NM_173591.3(OTOGL):c.1558C>T:p.Gln520Ter	coding	Pathogenic
12	80262019	G	A	G80262019A	OTOGL	NM_173591.3(OTOGL):c.1913G>A:p.Trp638Ter	coding	Pathogenic/Likely_pathogenic
12	80262052	A	T	A80262052T	OTOGL	NM_173591.3(OTOGL):c.1946A>T:p.His649Leu	coding	Benign
12	80262054	G	A	G80262054A	OTOGL	NM_173591.3(OTOGL):c.1948G>A:p.Val650Ile	coding	Benign
12	80262069	C	T	C80262069T	OTOGL	NM_173591.3(OTOGL):c.1963C>T:p.Pro655Ser	coding	Benign/Likely_benign
12	80267247	G	A	G80267247A	OTOGL	NM_173591.3(OTOGL):c.2364-6G>A	noncoding	Benign
12	80270172	G	A	G80270172A	OTOGL	NM_173591.3(OTOGL):c.2491+18G>A	noncoding	Benign
12	80271679	C	T	C80271679T	OTOGL	NM_173591.3(OTOGL):c.2523C>T:p.Phe841=	coding	Benign/Likely_benign
12	80278284	A	G	A80278284G	OTOGL	NM_173591.3(OTOGL):c.2762+9A>G	noncoding	Benign
12	80279115	T	C	T80279115C	OTOGL	NM_173591.3(OTOGL):c.2850T>C:p.Phe950=	coding	Benign
12	80296908	T	C	T80296908C	OTOGL	NM_173591.3(OTOGL):c.2983T>C:p.Leu995=	coding	Benign
12	80302673	C	T	C80302673T	OTOGL	NM_173591.3(OTOGL):c.3076C>T:p.Gln1026Ter	coding	Pathogenic
12	80302695	A	G	A80302695G	OTOGL	NM_173591.3(OTOGL):c.3098A>G:p.Tyr1033Cys	coding	Benign
12	80305695	G	T	G80305695T	OTOGL	NM_173591.3(OTOGL):c.3306G>T:p.Gln1102His	coding	Benign
12	80310704	A	G	A80310704G	OTOGL	NM_173591.3(OTOGL):c.3400A>G:p.Ile1134Val	coding	Benign/Likely_benign
12	80313456	T	A	T80313456A	OTOGL	NM_173591.3(OTOGL):c.3424-20T>A	noncoding	Benign
12	80313505	T	C	T80313505C	OTOGL	NM_173591.3(OTOGL):c.3453T>C:p.Cys1151=	coding	Benign
12	80313538	C	T	C80313538T	OTOGL	NM_173591.3(OTOGL):c.3486C>T:p.Gly1162=	coding	Benign/Likely_benign
12	80318640	G	A	G80318640A	OTOGL	NM_173591.3(OTOGL):c.3702G>A:p.Pro1234=	coding	Benign
12	80320508	T	A	T80320508A	OTOGL	NM_173591.3(OTOGL):c.3862T>A:p.Trp1288Arg	coding	Benign/Likely_benign
12	80323850	G	A	G80323850A	OTOGL	NM_173591.3(OTOGL):c.4172+10G>A	noncoding	Benign
12	80328623	A	T	A80328623T	OTOGL	NM_173591.3(OTOGL):c.4173-42A>T	noncoding	Benign
12	80328678	T	C	T80328678C	OTOGL	NM_173591.3(OTOGL):c.4186T>C:p.Leu1396=	coding	Benign/Likely_benign
12	80328756	C	T	C80328756T	OTOGL	NM_173591.3(OTOGL):c.4252+12C>T	noncoding	Benign
12	80332928	A	C	A80332928C	OTOGL	NM_173591.3(OTOGL):c.4322-77A>C	noncoding	Benign
12	80339228	C	T	C80339228T	OTOGL	NM_173591.3(OTOGL):c.4987C>T:p.Arg1663Ter	coding	Pathogenic
12	80341957	A	G	A80341957G	OTOGL	NM_173591.3(OTOGL):c.5033A>G:p.Asn1678Ser	coding	Benign
12	80341966	C	T	C80341966T	OTOGL	NM_173591.3(OTOGL):c.5042C>T:p.Pro1681Leu	coding	Benign/Likely_benign
12	80341991	T	C	T80341991C	OTOGL	NM_173591.3(OTOGL):c.5067T>C:p.Asn1689=	coding	Benign
12	80342124	T	A	T80342124A	OTOGL	NM_173591.3(OTOGL):c.5200T>A:p.Leu1734Ile	coding	Benign
12	80342167	G	A	G80342167A	OTOGL	NM_173591.3(OTOGL):c.5238+5G>A	noncoding	Pathogenic
12	80352288	T	C	T80352288C	OTOGL	NM_173591.3(OTOGL):c.5239-7T>C	noncoding	Benign
12	80352336	T	C	T80352336C	OTOGL	NM_173591.3(OTOGL):c.5280T>C:p.Tyr1760=	coding	Benign/Likely_benign
12	80353429	C	G	C80353429G	OTOGL	NM_173591.3(OTOGL):c.5485C>G:p.Leu1829Val	coding	Benign
12	80353462	A	G	A80353462G	OTOGL	NM_173591.3(OTOGL):c.5518A>G:p.Ile1840Val	coding	Benign
12	80355740	C	T	C80355740T	OTOGL	NM_173591.3(OTOGL):c.5571C>T:p.Cys1857=	coding	Benign/Likely_benign
12	80355759	C	A	C80355759A	OTOGL	NM_173591.3(OTOGL):c.5590C>A:p.Pro1864Thr	coding	Benign/Likely_benign
12	80355852	G	A	G80355852A	OTOGL	NM_173591.3(OTOGL):c.5683G>A:p.Asp1895Asn	coding	Benign
12	80356818	T	C	T80356818C	OTOGL	NM_173591.3(OTOGL):c.5896T>C:p.Leu1966=	coding	Benign/Likely_benign
12	80356879	G	A	G80356879A	OTOGL	NM_173591.3(OTOGL):c.5957G>A:p.Arg1986Gln	coding	Benign
12	80358283	C	A	C80358283A	OTOGL	NM_173591.3(OTOGL):c.6028C>A:p.His2010Asn	coding	Benign
12	80358670	G	A	G80358670A	OTOGL	NM_173591.3(OTOGL):c.6095-1G>A	noncoding	Pathogenic
12	80358705	C	T	C80358705T	OTOGL	NM_173591.3(OTOGL):c.6129C>T:p.Leu2043=	coding	Benign/Likely_benign
12	80358753	A	G	A80358753G	OTOGL	NM_173591.3(OTOGL):c.6177A>G:p.Gln2059=	coding	Benign
12	80358880	A	G	A80358880G	OTOGL	NM_173591.3(OTOGL):c.6220A>G:p.Ile2074Val	coding	Benign
12	80366589	A	G	A80366589G	OTOGL	NM_173591.3(OTOGL):c.6256A>G:p.Ile2086Val	coding	Benign/Likely_benign
12	80367631	G	T	G80367631T	OTOGL	NM_173591.3(OTOGL):c.6375G>T:p.Leu2125Phe	coding	Benign
12	80367650	G	A	G80367650A	OTOGL	NM_173591.3(OTOGL):c.6394G>A:p.Ala2132Thr	coding	Benign
12	80367685	G	A	G80367685A	OTOGL	NM_173591.3(OTOGL):c.6429G>A:p.Thr2143=	coding	Benign
12	80370580	C	T	C80370580T	OTOGL	NM_173591.3(OTOGL):c.6599C>T:p.Thr2200Ile	coding	Benign/Likely_benign
12	80372020	A	G	A80372020G	OTOGL	NM_173591.3(OTOGL):c.6710A>G:p.Asn2237Ser	coding	Benign
12	80377120	C	T	C80377120T	OTOGL	NM_173591.3(OTOGL):c.6755-3C>T	noncoding	Benign
12	80377200	C	T	C80377200T	OTOGL	NM_173591.3(OTOGL):c.6832C>T:p.Pro2278Ser	coding	Benign
12	80378033	G	A	G80378033A	OTOGL	NM_173591.3(OTOGL):c.7020G>A:p.Thr2340=	coding	Benign
12	80444395	C	T	C80444395T	PTPRQ	NM_001145026.2(PTPRQ):c.50C>T:p.Thr17Ile	coding	Benign
12	80444784	C	T	C80444784T	PTPRQ	NM_001145026.2(PTPRQ):c.98C>T:p.Thr33Ile	coding	Benign
12	80445529	G	A	G80445529A	PTPRQ	NM_001145026.2(PTPRQ):c.202G>A:p.Gly68Arg	coding	Benign/Likely_benign
12	80460707	A	G	A80460707G	PTPRQ	NM_001145026.2(PTPRQ):c.715A>G:p.Arg239Gly	coding	Pathogenic
12	80460829	T	A	T80460829A	PTPRQ	NM_001145026.2(PTPRQ):c.837T>A:p.Tyr279Ter	coding	Pathogenic
12	80468690	A	T	A80468690T	PTPRQ	NM_001145026.2(PTPRQ):c.911-20A>T	noncoding	Benign
12	80472169	A	G	A80472169G	PTPRQ	NM_001145026.2(PTPRQ):c.1104A>G:p.Thr368=	coding	Benign
12	80484479	G	A	G80484479A	PTPRQ	NM_001145026.2(PTPRQ):c.1233G>A:p.Thr411=	coding	Benign/Likely_benign
12	80484531	C	G	C80484531G	PTPRQ	NM_001145026.2(PTPRQ):c.1285C>G:p.Gln429Glu	coding	Benign/Likely_benign
12	80484538	G	A	G80484538A	PTPRQ	NM_001145026.2(PTPRQ):c.1292G>A:p.Arg431Gln	coding	Benign
12	80484607	T	C	T80484607C	PTPRQ	NM_001145026.2(PTPRQ):c.1359+2T>C	noncoding	Pathogenic
12	80495199	C	T	C80495199T	PTPRQ	NM_001145026.2(PTPRQ):c.1710C>T:p.Ser570=	coding	Benign
12	80496050	T	A	T80496050A	PTPRQ	NM_001145026.2(PTPRQ):c.1934T>A:p.Val645Asp	coding	Benign
12	80496384	T	C	T80496384C	PTPRQ	NM_001145026.2(PTPRQ):c.2125T>C:p.Leu709=	coding	Benign
12	80506602	T	C	T80506602C	PTPRQ	NM_001145026.2(PTPRQ):c.2489T>C:p.Val830Ala	coding	Benign
12	80539830	A	G	A80539830G	PTPRQ	NM_001145026.2(PTPRQ):c.3040A>G:p.Ile1014Val	coding	Benign
12	80541632	G	C	G80541632C	PTPRQ	NM_001145026.2(PTPRQ):c.3232G>C:p.Ala1078Pro	coding	Benign
12	80546688	C	T	C80546688T	PTPRQ	NM_001145026.2(PTPRQ):c.4006C>T:p.Gln1336Ter	coding	Pathogenic
12	80588318	A	G	A80588318G	PTPRQ	NM_001145026.2(PTPRQ):c.4475A>G:p.Tyr1492Cys	coding	Benign
12	80605138	T	C	T80605138C	PTPRQ	NM_001145026.2(PTPRQ):c.4689T>C:p.Ala1563=	coding	Benign
12	80610465	C	A	C80610465A	PTPRQ	NM_001145026.2(PTPRQ):c.4758C>A:p.Ser1586=	coding	Benign
12	80613734	T	C	T80613734C	PTPRQ	NM_001145026.2(PTPRQ):c.5061T>C:p.Pro1687=	coding	Benign
12	80613748	T	C	T80613748C	PTPRQ	NM_001145026.2(PTPRQ):c.5075T>C:p.Ile1692Thr	coding	Benign
12	80620153	G	T	G80620153T	PTPRQ	NM_001145026.2(PTPRQ):c.5390-1G>T	noncoding	Pathogenic
12	80669077	G	A	G80669077A	PTPRQ	NM_001145026.2(PTPRQ):c.6263G>A:p.Arg2088Lys	coding	Benign
12	80670365	C	T	C80670365T	PTPRQ	NM_001145026.2(PTPRQ):c.6475C>T:p.Arg2159Ter	coding	Pathogenic
12	80678601	G	A	G80678601A	PTPRQ	NM_001145026.2(PTPRQ):c.6739-1G>A	noncoding	Pathogenic
12	80707988	C	A	C80707988A	MYF6	NM_002469.3(MYF6):c.269C>A:p.Ala90Asp	coding	Benign/Likely_benign
12	80708071	C	A	C80708071A	MYF6	NM_002469.3(MYF6):c.352C>A:p.Arg118=	coding	Benign
12	80708979	C	A	C80708979A	MYF6	NM_002469.3(MYF6):c.*19C>A	noncoding	Benign
12	80709142	T	C	T80709142C	MYF6	NM_002469.3(MYF6):c.*182T>C	noncoding	Benign
12	80709365	A	G	A80709365G	MYF6	NM_002469.3(MYF6):c.*405A>G	noncoding	Benign
12	80717201	G	A	G80717201A	MYF5	NM_005593.3(MYF5):c.138G>A:p.Leu46=	coding	Benign
12	80717346	C	T	C80717346T	MYF5	NM_005593.3(MYF5):c.283C>T:p.Arg95Cys	coding	Pathogenic
12	80811600	G	T	G80811600T	LIN7A	NM_004664.3(LIN7A):c.567C>A:p.Thr189=	coding	Benign
12	81268043	C	T	C81268043T	PPFIA2	NM_003625.5(PPFIA2):c.3355G>A:p.Ala1119Thr	coding	Benign
12	81347683	A	G	A81347683G	PPFIA2	NM_003625.5(PPFIA2):c.2082T>C:p.Asn694=	coding	Benign
12	82687640	C	T	C82687640T	TMTC2	NM_152588.3(TMTC2):c.54C>T:p.Thr18=	coding	Benign
12	82895995	A	G	A82895995G	TMTC2	NM_152588.3(TMTC2):c.832A>G:p.Thr278Ala	coding	Benign
12	83132311	C	T	C83132311T	TMTC2	NM_152588.3(TMTC2):c.2433C>T:p.Asp811=	coding	Benign
12	84863589	G	A	G84863589A	SLC6A15	NM_182767.6(SLC6A15):c.1668C>T:p.Asp556=	coding	Benign
12	84872695	A	G	A84872695G	SLC6A15	NM_182767.6(SLC6A15):c.1209T>C:p.Tyr403=	coding	Benign
12	85280443	A	G	A85280443G	ALX1	NM_006982.3(ALX1):c.182A>G:p.His61Arg	coding	Benign
12	85280452	G	T	G85280452T	ALX1	NM_006982.3(ALX1):c.191G>T:p.Arg64Leu	coding	Benign/Likely_benign
12	85283611	A	G	A85283611G	ALX1	NM_006982.3(ALX1):c.266A>G:p.His89Arg	coding	Benign
12	85283877	G	A	G85283877A	ALX1	NM_006982.3(ALX1):c.531+1G>A	coding	Pathogenic
12	85286918	G	A	G85286918A	ALX1	NM_006982.3(ALX1):c.597G>A:p.Ala199=	coding	Benign
12	85286951	A	T	A85286951T	ALX1	NM_006982.3(ALX1):c.630A>T:p.Ser210=	coding	Benign
12	85301154	G	C	G85301154C	ALX1	NM_006982.3(ALX1):c.661-1G>C	noncoding	Pathogenic
12	85882366	C	T	C85882366T	NTS	NM_006183.5(NTS):c.504C>T:p.Tyr168=	coding	Benign
12	85979478	G	A	G85979478A	MGAT4C	NM_013244.5(MGAT4C):c.1248C>T:p.Asn416=	coding	Benign
12	88053784	G	C	G88053784C	CEP290	NM_025114.4(CEP290):c.7035-38C>G	noncoding	Benign
12	88054551	T	A	T88054551A	CEP290	NM_025114.4(CEP290):c.6961-138A>T	noncoding	Benign
12	88055319	A	G	A88055319G	CEP290	NM_025114.4(CEP290):c.6960+257T>C	noncoding	Benign
12	88055566	C	T	C88055566T	CEP290	NM_025114.4(CEP290):c.6960+10G>A	noncoding	Benign/Likely_benign
12	88055597	G	T	G88055597T	CEP290	NM_025114.4(CEP290):c.6939C>A:p.Tyr2313Ter	coding	Pathogenic
12	88055700	A	T	A88055700T	CEP290	NM_025114.4(CEP290):c.6836T>A:p.Leu2279Ter	coding	Pathogenic/Likely_pathogenic
12	88058860	A	G	A88058860G	CEP290	NM_025114.4(CEP290):c.6806T>C:p.Ile2269Thr	coding	Benign
12	88058868	C	T	C88058868T	CEP290	NM_025114.4(CEP290):c.6798G>A:p.Trp2266Ter	coding	Pathogenic
12	88058869	C	T	C88058869T	CEP290	NM_025114.4(CEP290):c.6797G>A:p.Trp2266Ter	coding	Pathogenic
12	88059909	C	A	C88059909A	CEP290	NM_025114.4(CEP290):c.6634G>T:p.Glu2212Ter	coding	Pathogenic
12	88060988	T	A	T88060988A	CEP290	NM_025114.4(CEP290):c.6364A>T:p.Arg2122Ter	coding	Pathogenic
12	88062672	T	A	T88062672A	CEP290	NM_025114.4(CEP290):c.6357+20A>T	noncoding	Benign
12	88062786	A	C	A88062786C	CEP290	NM_025114.4(CEP290):c.6271-8T>G	noncoding	Pathogenic
12	88068521	C	T	C88068521T	CEP290	NM_025114.4(CEP290):c.6135+1G>A	noncoding	Pathogenic
12	88068579	T	C	T88068579C	CEP290	NM_025114.4(CEP290):c.6078A>G:p.Gln2026=	coding	Benign
12	88068585	G	T	G88068585T	CEP290	NM_025114.4(CEP290):c.6072C>A:p.Tyr2024Ter	coding	Pathogenic
12	88068626	G	A	G88068626A	CEP290	NM_025114.4(CEP290):c.6031C>T:p.Arg2011Ter	coding	Pathogenic
12	88068647	T	C	T88068647C	CEP290	NM_025114.4(CEP290):c.6012-2A>G	noncoding	Pathogenic
12	88068657	A	T	A88068657T	CEP290	NM_025114.4(CEP290):c.6012-12T>A	noncoding	Pathogenic
12	88071373	G	A	G88071373A	CEP290	NM_025114.4(CEP290):c.5932C>T:p.Arg1978Ter	coding	Pathogenic
12	88071833	C	A	C88071833A	CEP290	NM_025114.4(CEP290):c.5803G>T:p.Glu1935Ter	coding	Pathogenic
12	88071848	T	A	T88071848A	CEP290	NM_025114.4(CEP290):c.5788A>T:p.Lys1930Ter	coding	Pathogenic
12	88071860	G	A	G88071860A	CEP290	NM_025114.4(CEP290):c.5776C>T:p.Arg1926Ter	coding	Pathogenic/Likely_pathogenic
12	88077177	C	G	C88077177G	CEP290	NM_025114.4(CEP290):c.5709+45G>C	noncoding	Benign
12	88077197	T	G	T88077197G	CEP290	NM_025114.4(CEP290):c.5709+25A>C	noncoding	Benign
12	88077204	G	T	G88077204T	CEP290	NM_025114.4(CEP290):c.5709+18C>A	noncoding	Benign
12	88077224	T	A	T88077224A	CEP290	NM_025114.4(CEP290):c.5707A>T:p.Lys1903Ter	coding	Pathogenic
12	88077227	C	A	C88077227A	CEP290	NM_025114.4(CEP290):c.5704G>T:p.Glu1902Ter	coding	Pathogenic/Likely_pathogenic
12	88077263	C	A	C88077263A	CEP290	NM_025114.4(CEP290):c.5668G>T:p.Gly1890Ter	coding	Pathogenic
12	88077345	C	G	C88077345G	CEP290	NM_025114.4(CEP290):c.5587-1G>C	coding	Pathogenic
12	88079112	G	A	G88079112A	CEP290	NM_025114.4(CEP290):c.5344C>T:p.Arg1782Ter	coding	Pathogenic
12	88079127	G	A	G88079127A	CEP290	NM_025114.4(CEP290):c.5329C>T:p.Gln1777Ter	coding	Pathogenic
12	88079219	C	T	C88079219T	CEP290	NM_025114.4(CEP290):c.5237G>A:p.Arg1746Gln	coding	Benign/Likely_benign
12	88079238	T	C	T88079238C	CEP290	NM_025114.4(CEP290):c.5227-9A>G	noncoding	Benign
12	88079272	C	T	C88079272T	CEP290	NM_025114.4(CEP290):c.5227-43G>A	noncoding	Benign
12	88079530	T	G	T88079530G	CEP290	NM_025114.4(CEP290):c.5227-301A>C	noncoding	Benign
12	88080196	C	A	C88080196A	CEP290	NM_025114.4(CEP290):c.5212G>T:p.Glu1738Ter	coding	Pathogenic
12	88080209	T	C	T88080209C	CEP290	NM_025114.4(CEP290):c.5199A>G:p.Gln1733=	coding	Benign/Likely_benign
12	88080226	C	A	C88080226A	CEP290	NM_025114.4(CEP290):c.5182G>T:p.Glu1728Ter	coding	Pathogenic
12	88083077	C	A	C88083077A	CEP290	NM_025114.4(CEP290):c.4966G>T:p.Glu1656Ter	coding	Pathogenic/Likely_pathogenic
12	88083083	G	A	G88083083A	CEP290	NM_025114.4(CEP290):c.4960C>T:p.Gln1654Ter	coding	Pathogenic
12	88083161	G	A	G88083161A	CEP290	NM_025114.4(CEP290):c.4882C>T:p.Gln1628Ter	coding	Pathogenic
12	88083848	C	T	C88083848T	CEP290	NM_025114.4(CEP290):c.4811G>A:p.Trp1604Ter	coding	Pathogenic
12	88083888	G	A	G88083888A	CEP290	NM_025114.4(CEP290):c.4771C>T:p.Gln1591Ter	coding	Pathogenic
12	88083936	T	A	T88083936A	CEP290	NM_025114.4(CEP290):c.4723A>T:p.Lys1575Ter	coding	Pathogenic
12	88083945	C	T	C88083945T	CEP290	NM_025114.4(CEP290):c.4714G>A:p.Glu1572Lys	coding	Pathogenic/Likely_pathogenic
12	88083955	C	A	C88083955A	CEP290	NM_025114.4(CEP290):c.4705-1G>T	coding	Pathogenic/Likely_pathogenic
12	88084211	T	C	T88084211C	CEP290	NM_025114.4(CEP290):c.4705-257A>G	noncoding	Benign
12	88084272	T	A	T88084272A	CEP290	NM_025114.4(CEP290):c.4704+314A>T	noncoding	Benign
12	88084305	C	T	C88084305T	CEP290	NM_025114.4(CEP290):c.4704+281G>A	noncoding	Benign
12	88084595	T	C	T88084595C	CEP290	NM_025114.4(CEP290):c.4695A>G:p.Lys1565=	coding	Benign
12	88084768	G	A	G88084768A	CEP290	NM_025114.4(CEP290):c.4522C>T:p.Arg1508Ter	coding	Pathogenic
12	88086083	G	A	G88086083A	CEP290	NM_025114.4(CEP290):c.4393C>T:p.Arg1465Ter	coding	Pathogenic
12	88086846	G	A	G88086846A	CEP290	NM_025114.4(CEP290):c.4195-348C>T	noncoding	Benign
12	88087788	G	A	G88087788A	CEP290	NM_025114.4(CEP290):c.4186C>T:p.Gln1396Ter	coding	Pathogenic
12	88087855	T	C	T88087855C	CEP290	NM_025114.4(CEP290):c.4119A>G:p.Lys1373=	coding	Benign/Likely_benign
12	88087934	C	T	C88087934T	CEP290	NM_025114.4(CEP290):c.4040G>A:p.Trp1347Ter	coding	Pathogenic
12	88089031	C	T	C88089031T	CEP290	NM_025114.4(CEP290):c.4029+1G>A	noncoding	Pathogenic
12	88089118	C	A	C88089118A	CEP290	NM_025114.4(CEP290):c.3943G>T:p.Glu1315Ter	coding	Pathogenic
12	88089157	G	A	G88089157A	CEP290	NM_025114.4(CEP290):c.3904C>T:p.Gln1302Ter	coding	Pathogenic
12	88089247	G	A	G88089247A	CEP290	NM_025114.4(CEP290):c.3814C>T:p.Arg1272Ter	coding	Pathogenic
12	88089250	G	A	G88089250A	CEP290	NM_025114.4(CEP290):c.3811C>T:p.Arg1271Ter	coding	Pathogenic
12	88089259	G	A	G88089259A	CEP290	NM_025114.4(CEP290):c.3802C>T:p.Gln1268Ter	coding	Pathogenic
12	88089351	C	T	C88089351T	CEP290	NM_025114.4(CEP290):c.3710G>A:p.Arg1237His	coding	Benign
12	88089468	G	T	G88089468T	CEP290	NM_025114.4(CEP290):c.3593C>A:p.Ser1198Ter	coding	Pathogenic
12	88089490	G	C	G88089490C	CEP290	NM_025114.4(CEP290):c.3574-3C>G	noncoding	Benign
12	88089496	A	C	A88089496C	CEP290	NM_025114.4(CEP290):c.3574-9T>G	noncoding	Benign
12	88090541	G	T	G88090541T	CEP290	NM_025114.4(CEP290):c.3573+187C>A	noncoding	Benign
12	88090781	G	A	G88090781A	CEP290	NM_025114.4(CEP290):c.3520C>T:p.Gln1174Ter	coding	Pathogenic
12	88090787	G	A	G88090787A	CEP290	NM_025114.4(CEP290):c.3514C>T:p.Gln1172Ter	coding	Pathogenic
12	88091125	T	C	T88091125C	CEP290	NM_025114.4(CEP290):c.3462-286A>G	noncoding	Benign
12	88092680	C	T	C88092680T	CEP290	NM_025114.4(CEP290):c.3461+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	88093545	A	C	A88093545C	CEP290	NM_025114.4(CEP290):c.3309+225T>G	noncoding	Benign
12	88093839	A	C	A88093839C	CEP290	NM_025114.4(CEP290):c.3240T>G:p.Tyr1080Ter	coding	Pathogenic
12	88093977	T	C	T88093977C	CEP290	NM_025114.4(CEP290):c.3104-2A>G	noncoding	Pathogenic
12	88093980	A	C	A88093980C	CEP290	NM_025114.4(CEP290):c.3104-5T>G	noncoding	Pathogenic
12	88100941	C	T	C88100941T	CEP290	NM_025114.4(CEP290):c.2991+1897G>A	noncoding	Benign
12	88101183	T	C	T88101183C	CEP290	NM_025114.4(CEP290):c.2991+1655A>G	noncoding	Pathogenic/Likely_pathogenic
12	88102888	G	A	G88102888A	CEP290	NM_025114.4(CEP290):c.2941C>T:p.Gln981Ter	coding	Pathogenic
12	88102918	C	A	C88102918A	CEP290	NM_025114.4(CEP290):c.2911G>T:p.Glu971Ter	coding	Pathogenic
12	88103002	T	C	T88103002C	CEP290	NM_025114.4(CEP290):c.2827A>G:p.Ile943Val	coding	Benign/Likely_benign
12	88103061	C	G	C88103061G	CEP290	NM_025114.4(CEP290):c.2818-50G>C	noncoding	Benign
12	88106627	T	C	T88106627C	CEP290	NM_025114.4(CEP290):c.2817+48A>G	noncoding	Benign
12	88106770	G	A	G88106770A	CEP290	NM_025114.4(CEP290):c.2722C>T:p.Arg908Ter	coding	Pathogenic
12	88106775	A	C	A88106775C	CEP290	NM_025114.4(CEP290):c.2717T>G:p.Leu906Trp	coding	Benign
12	88106824	G	A	G88106824A	CEP290	NM_025114.4(CEP290):c.2668C>T:p.Gln890Ter	coding	Pathogenic
12	88106887	G	A	G88106887A	CEP290	NM_025114.4(CEP290):c.2605C>T:p.Gln869Ter	coding	Pathogenic
12	88106897	G	A	G88106897A	CEP290	NM_025114.4(CEP290):c.2595C>T:p.Leu865=	coding	Benign/Likely_benign
12	88107028	G	T	G88107028T	CEP290	NM_025114.4(CEP290):c.2554C>A:p.Gln852Lys	coding	Benign
12	88107070	T	C	T88107070C	CEP290	NM_025114.4(CEP290):c.2512A>G:p.Lys838Glu	coding	Benign
12	88108840	C	T	C88108840T	CEP290	NM_025114.4(CEP290):c.2483+226G>A	noncoding	Benign
12	88109218	A	C	A88109218C	CEP290	NM_025114.4(CEP290):c.2368-37T>G	noncoding	Benign/Likely_benign
12	88111301	T	C	T88111301C	CEP290	NM_025114.4(CEP290):c.2268A>G:p.Ser756=	coding	Benign
12	88111318	G	A	G88111318A	CEP290	NM_025114.4(CEP290):c.2251C>T:p.Arg751Ter	coding	Pathogenic
12	88111320	A	C	A88111320C	CEP290	NM_025114.4(CEP290):c.2249T>G:p.Leu750Ter	coding	Pathogenic
12	88111559	T	A	T88111559A	CEP290	NM_025114.4(CEP290):c.2217+135A>T	noncoding	Benign
12	88111856	A	G	A88111856G	CEP290	NM_025114.4(CEP290):c.2055T>C:p.Ala685=	coding	Benign
12	88114481	T	C	T88114481C	CEP290	NM_025114.4(CEP290):c.1991A>G:p.Asp664Gly	coding	Benign
12	88114488	G	A	G88114488A	CEP290	NM_025114.4(CEP290):c.1984C>T:p.Gln662Ter	coding	Pathogenic
12	88114536	G	A	G88114536A	CEP290	NM_025114.4(CEP290):c.1936C>T:p.Gln646Ter	coding	Pathogenic
12	88114557	C	A	C88114557A	CEP290	NM_025114.4(CEP290):c.1915G>T:p.Glu639Ter	coding	Pathogenic/Likely_pathogenic
12	88114573	A	C	A88114573C	CEP290	NM_025114.4(CEP290):c.1910-11T>G	noncoding	Pathogenic
12	88115149	C	A	C88115149A	CEP290	NM_025114.4(CEP290):c.1858G>T:p.Glu620Ter	coding	Pathogenic
12	88117076	A	T	A88117076T	CEP290	NM_025114.4(CEP290):c.1781T>A:p.Leu594Ter	coding	Pathogenic
12	88117104	G	A	G88117104A	CEP290	NM_025114.4(CEP290):c.1753C>T:p.Gln585Ter	coding	Pathogenic
12	88118482	C	T	C88118482T	CEP290	NM_025114.4(CEP290):c.1711+1G>A	noncoding	Pathogenic
12	88118549	G	A	G88118549A	CEP290	NM_025114.4(CEP290):c.1645C>T:p.Arg549Ter	coding	Pathogenic
12	88118567	C	A	C88118567A	CEP290	NM_025114.4(CEP290):c.1627G>T:p.Glu543Ter	coding	Pathogenic
12	88118575	A	G	A88118575G	CEP290	NM_025114.4(CEP290):c.1624-5T>C	noncoding	Benign/Likely_benign
12	88118638	C	T	C88118638T	CEP290	NM_025114.4(CEP290):c.1623+5G>A	noncoding	Pathogenic
12	88118642	C	T	C88118642T	CEP290	NM_025114.4(CEP290):c.1623+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	88118673	G	T	G88118673T	CEP290	NM_025114.4(CEP290):c.1593C>A:p.Tyr531Ter	coding	Pathogenic
12	88120113	C	G	C88120113G	CEP290	NM_025114.4(CEP290):c.1522+1G>C	noncoding	Pathogenic
12	88120162	T	A	T88120162A	CEP290	NM_025114.4(CEP290):c.1474A>T:p.Lys492Ter	coding	Pathogenic
12	88120207	G	A	G88120207A	CEP290	NM_025114.4(CEP290):c.1429C>T:p.Arg477Ter	coding	Pathogenic/Likely_pathogenic
12	88120246	C	A	C88120246A	CEP290	NM_025114.4(CEP290):c.1390G>T:p.Glu464Ter	coding	Pathogenic
12	88125245	C	T	C88125245T	CEP290	NM_025114.4(CEP290):c.1189+1G>A	noncoding	Pathogenic
12	88125357	G	A	G88125357A	CEP290	NM_025114.4(CEP290):c.1078C>T:p.Arg360Ter	coding	Pathogenic
12	88125363	G	A	G88125363A	CEP290	NM_025114.4(CEP290):c.1072C>T:p.Gln358Ter	coding	Pathogenic
12	88125370	C	T	C88125370T	CEP290	NM_025114.4(CEP290):c.1066-1G>A	coding	Pathogenic
12	88125624	A	G	A88125624G	CEP290	NM_025114.4(CEP290):c.1066-255T>C	noncoding	Benign
12	88128675	T	C	T88128675C	CEP290	NM_025114.4(CEP290):c.942+271A>G	noncoding	Benign
12	88129007	G	C	G88129007C	CEP290	NM_025114.4(CEP290):c.881C>G:p.Ser294Ter	coding	Pathogenic
12	88129717	C	G	C88129717G	CEP290	NM_025114.4(CEP290):c.829G>C:p.Glu277Gln	coding	Benign/Likely_benign
12	88130283	A	C	A88130283C	CEP290	NM_025114.4(CEP290):c.654T>G:p.Tyr218Ter	coding	Pathogenic
12	88130324	G	A	G88130324A	CEP290	NM_025114.4(CEP290):c.613C>T:p.Arg205Ter	coding	Pathogenic
12	88130553	T	A	T88130553A	CEP290	NM_025114.4(CEP290):c.508A>T:p.Lys170Ter	coding	Pathogenic
12	88130834	C	A	C88130834A	CEP290	NM_025114.4(CEP290):c.496-269G>T	noncoding	Benign
12	88131209	G	A	G88131209A	CEP290	NM_025114.4(CEP290):c.451C>T:p.Arg151Ter	coding	Pathogenic/Likely_pathogenic
12	88131237	A	T	A88131237T	CEP290	NM_025114.4(CEP290):c.442-19T>A	noncoding	Benign
12	88131303	G	A	G88131303A	CEP290	NM_025114.4(CEP290):c.442-85C>T	noncoding	Benign
12	88136711	C	A	C88136711A	CEP290	NM_025114.4(CEP290):c.373G>T:p.Glu125Ter	coding	Pathogenic
12	88136717	G	A	G88136717A	CEP290	NM_025114.4(CEP290):c.367C>T:p.Gln123Ter	coding	Pathogenic
12	88136746	A	T	A88136746T	CEP290	NM_025114.4(CEP290):c.338T>A:p.Leu113Ter	coding	Pathogenic
12	88136762	G	A	G88136762A	CEP290	NM_025114.4(CEP290):c.322C>T:p.Arg108Ter	coding	Pathogenic
12	88139109	T	C	T88139109C	CEP290	NM_025114.4(CEP290):c.297+36A>G	noncoding	Benign/Likely_benign
12	88139144	C	A	C88139144A	CEP290	NM_025114.4(CEP290):c.297+1G>T	noncoding	Pathogenic
12	88139153	C	A	C88139153A	CEP290	NM_025114.4(CEP290):c.289G>T:p.Glu97Ter	coding	Pathogenic
12	88139201	T	A	T88139201A	CEP290	NM_025114.4(CEP290):c.251-10A>T	noncoding	Benign/Likely_benign
12	88139566	T	C	T88139566C	CEP290	NM_025114.4(CEP290):c.181-2A>G	noncoding	Pathogenic
12	88140955	C	T	C88140955T	CEP290	NM_025114.4(CEP290):c.180+1G>A	noncoding	Pathogenic
12	88140970	G	A	G88140970A	CEP290	NM_025114.4(CEP290):c.166C>T:p.Gln56Ter	coding	Pathogenic
12	88141034	C	A	C88141034A	CEP290	NM_025114.4(CEP290):c.103-1G>T	coding	Pathogenic
12	88141205	C	A	C88141205A	CEP290	NM_025114.4(CEP290):c.102+1G>T	noncoding	Pathogenic
12	88141287	C	A	C88141287A	CEP290	NM_025114.4(CEP290):c.21G>T:p.Trp7Cys	coding	Pathogenic
12	88141306	A	T	A88141306T	CEP290	NM_025114.4(CEP290):c.2T>A:p.Met1Lys	coding	Pathogenic
12	88141307	T	C	T88141307C	CEP290	NM_025114.4(CEP290):c.1A>G:p.Met1Val	coding	Pathogenic
12	88141390	T	G	T88141390G	CEP290	NM_025114.4(CEP290):c.-27-56A>C	noncoding	Benign
12	88148318	G	A	G88148318A	TMTC3	NM_181783.4(TMTC3):c.3G>A:p.Met1Ile	coding	Pathogenic
12	88153436	A	G	A88153436G	TMTC3	NM_181783.4(TMTC3):c.335A>G:p.Lys112Arg	coding	Benign
12	88154356	T	C	T88154356C	TMTC3	NM_181783.4(TMTC3):c.477T>C:p.Tyr159=	coding	Benign
12	88188925	G	A	G88188925A	TMTC3	NM_181783.4(TMTC3):c.1515G>A:p.Met505Ile	coding	Benign
12	88195479	G	A	G88195479A	TMTC3	NM_181783.4(TMTC3):c.2575G>A:p.Val859Ile	coding	Benign
12	88195521	C	T	C88195521T	TMTC3	NM_181783.4(TMTC3):c.2617C>T:p.Gln873Ter	coding	Pathogenic
12	88507114	C	A	C88507114A	KITLG	NM_000899.5(KITLG):c.628G>T:p.Asp210Tyr	coding	Benign
12	88515623	T	C	T88515623C	KITLG	NM_000899.5(KITLG):c.521-6A>G	noncoding	Benign
12	88518847	G	A	G88518847A	KITLG	NM_000899.5(KITLG):c.213C>T:p.Ser71=	coding	Benign
12	88532456	G	A	G88532456A	KITLG	NM_000899.5(KITLG):c.177C>T:p.Pro59=	coding	Benign/Likely_benign
12	88532473	T	C	T88532473C	KITLG	NM_000899.5(KITLG):c.160A>G:p.Thr54Ala	coding	Benign
12	88545773	A	T	A88545773T	KITLG	NM_000899.5(KITLG):c.108T>A:p.Asn36Lys	coding	Pathogenic
12	88545774	T	C	T88545774C	KITLG	NM_000899.5(KITLG):c.107A>G:p.Asn36Ser	coding	Pathogenic
12	88545781	T	G	T88545781G	KITLG	NM_000899.5(KITLG):c.100A>C:p.Thr34Pro	coding	Pathogenic
12	88545783	A	G	A88545783G	KITLG	NM_000899.5(KITLG):c.98T>C:p.Val33Ala	coding	Pathogenic
12	89349443	G	A	G89349443A	DUSP6	NM_001946.4(DUSP6):c.957C>T:p.Ala319=	coding	Benign
12	89349446	A	G	A89349446G	DUSP6	NM_001946.4(DUSP6):c.954T>C:p.Asp318=	coding	Benign
12	89350860	T	C	T89350860C	DUSP6	NM_001946.4(DUSP6):c.566A>G:p.Asn189Ser	coding	Pathogenic
12	89351633	C	A	C89351633A	DUSP6	NM_001946.4(DUSP6):c.400+7G>T	noncoding	Benign
12	89351700	C	A	C89351700A	DUSP6	NM_001946.4(DUSP6):c.340G>T:p.Val114Leu	coding	Benign
12	89421157	C	A	C89421157A	POC1B	NM_172240.3(POC1B):c.1433G>T:p.Ser478Ile	coding	Benign
12	89459631	G	A	G89459631A	POC1B	NM_172240.3(POC1B):c.1113+7C>T	noncoding	Benign
12	89466812	T	C	T89466812C	POC1B	NM_172240.3(POC1B):c.990A>G:p.Pro330=	coding	Benign
12	89470385	G	A	G89470385A	POC1B	NM_172240.3(POC1B):c.786C>T:p.Leu262=	coding	Benign
12	89470487	G	A	G89470487A	POC1B	NM_172240.3(POC1B):c.684C>T:p.Ser228=	coding	Benign
12	89472166	A	C	A89472166C	POC1B	NM_172240.3(POC1B):c.560+2T>G	noncoding	Pathogenic
12	89491964	G	A	G89491964A	POC1B	NM_172240.3(POC1B):c.424C>T:p.Arg142Ter	coding	Pathogenic
12	89492071	C	G	C89492071G	POC1B	NM_172240.3(POC1B):c.317G>C:p.Arg106Pro	coding	Pathogenic
12	89497275	A	G	A89497275G	POC1B	NM_172240.3(POC1B):c.168T>C:p.Tyr56=	coding	Benign
12	89523004	G	T	G89523004T	GALNT4	NM_003774.5(GALNT4):c.1546C>A:p.Gln516Lys	coding	Benign
12	89523764	A	T	A89523764T	GALNT4	NM_003774.5(GALNT4):c.786T>A:p.Asn262Lys	coding	Benign
12	89591227	C	A	C89591227A	ATP2B1	NM_001366521.1(ATP2B1):c.3420G>T:p.Ser1140=	coding	Benign
12	89604242	A	G	A89604242G	ATP2B1	NM_001366521.1(ATP2B1):c.2547T>C:p.Tyr849=	coding	Benign
12	89616817	A	G	A89616817G	ATP2B1	NM_001366521.1(ATP2B1):c.2052T>C:p.Asp684=	coding	Benign
12	89626608	G	T	G89626608T	ATP2B1	NM_001366521.1(ATP2B1):c.975C>A:p.Ala325=	coding	Benign
12	91051468	G	A	G91051468A	KERA	NM_007035.3(KERA):c.937C>T:p.Arg313Ter	coding	Pathogenic
12	91055447	G	A	G91055447A	KERA	NM_007035.3(KERA):c.835C>T:p.Arg279Ter	coding	Pathogenic
12	91055542	T	C	T91055542C	KERA	NM_007035.3(KERA):c.740A>G:p.Asn247Ser	coding	Pathogenic
12	91055638	G	T	G91055638T	KERA	NM_007035.3(KERA):c.644C>A:p.Thr215Lys	coding	Pathogenic
12	91055762	G	A	G91055762A	KERA	NM_007035.3(KERA):c.520C>T:p.Gln174Ter	coding	Pathogenic
12	91055962	A	C	A91055962C	KERA	NM_007035.3(KERA):c.320T>G:p.Ile107Arg	coding	Pathogenic
12	91145681	A	G	A91145681G	DCN	NM_001920.5(DCN):c.*377T>C	noncoding	Benign
12	91145898	G	A	G91145898A	DCN	NM_001920.5(DCN):c.*160C>T	noncoding	Benign
12	91145953	C	T	C91145953T	DCN	NM_001920.5(DCN):c.*105G>A	noncoding	Benign
12	91146007	T	C	T91146007C	DCN	NM_001920.5(DCN):c.*51A>G	noncoding	Benign
12	91146163	C	T	C91146163T	DCN	NM_001920.5(DCN):c.975G>A:p.Ser325=	coding	Benign
12	91146221	A	G	A91146221G	DCN	NM_001920.5(DCN):c.917T>C:p.Val306Ala	coding	Benign
12	91151736	G	A	G91151736A	DCN	NM_001920.5(DCN):c.803C>T:p.Thr268Met	coding	Benign
12	91153139	T	G	T91153139G	DCN	NM_001920.5(DCN):c.703A>C:p.Arg235=	coding	Benign
12	91153171	G	A	G91153171A	DCN	NM_001920.5(DCN):c.671C>T:p.Thr224Met	coding	Benign
12	91158305	T	A	T91158305A	DCN	NM_001920.5(DCN):c.529A>T:p.Ile177Phe	coding	Benign
12	91158410	T	C	T91158410C	DCN	NM_001920.5(DCN):c.424A>G:p.Lys142Glu	coding	Benign
12	91164647	G	A	G91164647A	DCN	NM_001920.5(DCN):c.282C>T:p.Thr94=	coding	Benign
12	91164723	A	G	A91164723G	DCN	NM_001920.5(DCN):c.212-6T>C	noncoding	Benign
12	91178520	T	C	T91178520C	DCN	NM_001920.5(DCN):c.33A>G:p.Ala11=	coding	Benign
12	92706717	A	G	A92706717G	PLEKHG7	NM_001178097.3(C12orf74):c.86A>G:p.Lys29Arg	coding	Benign
12	92706817	G	A	G92706817A	PLEKHG7	NM_001178097.3(C12orf74):c.186G>A:p.Arg62=	coding	Benign
12	92782070	A	T	A92782070T	EEA1	NM_003566.4(EEA1):c.3216T>A:p.Asn1072Lys	coding	Benign
12	92811324	G	A	G92811324A	EEA1	NM_003566.4(EEA1):c.2154C>T:p.Tyr718=	coding	Benign
12	92864856	G	A	G92864856A	EEA1	NM_003566.4(EEA1):c.245+4C>T	noncoding	Benign
12	93678776	T	C	T93678776C	CRADD	NM_003805.5(CRADD):c.2T>C:p.Met1Thr	coding	Pathogenic
12	93678776	T	G	T93678776G	CRADD	NM_003805.5(CRADD):c.2T>G:p.Met1Arg	coding	Pathogenic
12	93850053	G	C	G93850053C	CRADD	NM_003805.5(CRADD):c.382G>C:p.Gly128Arg	coding	Pathogenic
12	93850162	T	G	T93850162G	CRADD	NM_003805.5(CRADD):c.491T>G:p.Phe164Cys	coding	Pathogenic
12	93850179	C	T	C93850179T	CRADD	NM_003805.5(CRADD):c.508C>T:p.Arg170Cys	coding	Pathogenic
12	93850180	G	A	G93850180A	CRADD	NM_003805.5(CRADD):c.509G>A:p.Arg170His	coding	Pathogenic
12	93850225	G	A	G93850225A	CRADD	NM_003805.5(CRADD):c.554G>A:p.Arg185Gln	coding	Benign
12	93850268	G	A	G93850268A	CRADD	NM_003805.5(CRADD):c.597G>A:p.Glu199=	coding	Benign
12	94209630	G	C	G94209630C	PLXNC1	NM_005761.3(PLXNC1):c.1480G>C:p.Glu494Gln	coding	Benign
12	94220010	G	A	G94220010A	PLXNC1	NM_005761.3(PLXNC1):c.1555-6G>A	noncoding	Benign
12	94220088	A	T	A94220088T	PLXNC1	NM_005761.3(PLXNC1):c.1627A>T:p.Arg543Trp	coding	Benign
12	94226635	G	A	G94226635A	PLXNC1	NM_005761.3(PLXNC1):c.1821G>A:p.Ala607=	coding	Benign
12	94300916	T	C	T94300916C	PLXNC1	NM_005761.3(PLXNC1):c.4245T>C:p.Pro1415=	coding	Benign
12	94303748	T	C	T94303748C	PLXNC1	NM_005761.3(PLXNC1):c.4387-8T>C	noncoding	Benign
12	94303749	T	C	T94303749C	PLXNC1	NM_005761.3(PLXNC1):c.4387-7T>C	noncoding	Benign
12	94310031	G	A	G94310031A	CEP83	NM_016122.3(CEP83):c.1888C>T:p.Arg630Ter	coding	Pathogenic
12	94331825	A	G	A94331825G	CEP83	NM_016122.3(CEP83):c.1582T>C:p.Leu528=	coding	Benign
12	94333527	C	G	C94333527G	CEP83	NM_016122.3(CEP83):c.1532G>C:p.Arg511Pro	coding	Pathogenic
12	94333529	G	T	G94333529T	CEP83	NM_016122.3(CEP83):c.1530C>A:p.Cys510Ter	coding	Pathogenic
12	94335597	G	A	G94335597A	CEP83	NM_016122.3(CEP83):c.1411C>T:p.Leu471=	coding	Benign
12	94367934	G	A	G94367934A	CEP83	NM_016122.3(CEP83):c.1203C>T:p.Leu401=	coding	Benign
12	94375912	G	A	G94375912A	CEP83	NM_016122.3(CEP83):c.907C>T:p.Arg303Ter	coding	Pathogenic
12	94378967	G	A	G94378967A	CEP83	NM_016122.3(CEP83):c.625C>T:p.Arg209Ter	coding	Pathogenic
12	94400962	G	A	G94400962A	CEP83	NM_016122.3(CEP83):c.437C>T:p.Ala146Val	coding	Benign
12	94403179	A	G	A94403179G	CEP83	NM_016122.3(CEP83):c.408T>C:p.Asn136=	coding	Benign
12	94411780	G	A	G94411780A	CEP83	NM_016122.3(CEP83):c.241C>T:p.Gln81Ter	coding	Pathogenic
12	94412370	G	A	G94412370A	CEP83	NM_016122.3(CEP83):c.121C>T:p.Arg41Ter	coding	Pathogenic
12	94582053	C	T	C94582053T	TMCC3	NM_020698.4(TMCC3):c.564G>A:p.Met188Ile	coding	Benign
12	94582104	G	A	G94582104A	TMCC3	NM_020698.4(TMCC3):c.513C>T:p.His171=	coding	Benign
12	94994174	C	A	C94994174A	NDUFA12	NM_018838.5(NDUFA12):c.253G>T:p.Glu85Ter	coding	Pathogenic
12	94994211	G	A	G94994211A	NDUFA12	NM_018838.5(NDUFA12):c.216C>T:p.Asn72=	coding	Benign
12	94994249	G	A	G94994249A	NDUFA12	NM_018838.5(NDUFA12):c.178C>T:p.Arg60Ter	coding	Pathogenic
12	95002468	C	G	C95002468G	NDUFA12	NM_018838.5(NDUFA12):c.169+271G>C	noncoding	Benign
12	95003499	G	T	G95003499T	NDUFA12	NM_018838.5(NDUFA12):c.86+96C>A	noncoding	Benign
12	95003981	C	T	C95003981T	NDUFA12	NC_000012.12:g.95003981C>T	noncoding	Benign
12	95141380	A	C	A95141380C	FGD6	NM_018351.4(FGD6):c.2837+8T>G	noncoding	Benign
12	95152845	T	A	T95152845A	FGD6	NM_018351.4(FGD6):c.2655-4A>T	noncoding	Benign
12	95210076	G	A	G95210076A	FGD6	NM_018351.4(FGD6):c.1208C>T:p.Ala403Val	coding	Benign
12	95210601	G	T	G95210601T	FGD6	NM_018351.4(FGD6):c.683C>A:p.Ser228Tyr	coding	Benign
12	95533170	C	T	C95533170T	USP44	NM_032147.5(USP44):c.1087G>A:p.Gly363Ser	coding	Benign
12	95533215	T	C	T95533215C	USP44	NM_032147.5(USP44):c.1042A>G:p.Arg348Gly	coding	Benign
12	95533549	C	T	C95533549T	USP44	NM_032147.5(USP44):c.708G>A:p.Thr236=	coding	Benign
12	95534152	G	C	G95534152C	USP44	NM_032147.5(USP44):c.105C>G:p.Thr35=	coding	Benign
12	95710602	G	T	G95710602T	NTN4	NM_021229.4(NTN4):c.1019C>A:p.Thr340Asn	coding	Benign
12	95713309	G	A	G95713309A	NTN4	NM_021229.4(NTN4):c.894C>T:p.Asn298=	coding	Benign
12	95787107	C	T	C95787107T	NTN4	NM_021229.4(NTN4):c.417G>A:p.Pro139=	coding	Benign
12	95787450	C	A	C95787450A	NTN4	NM_021229.4(NTN4):c.74G>T:p.Gly25Val	coding	Benign
12	95972733	T	C	T95972733C	HAL	NM_002108.4(HAL):c.*1499A>G	noncoding	Benign
12	95972920	G	A	G95972920A	HAL	NM_002108.4(HAL):c.*1312C>T	noncoding	Benign
12	95972991	T	G	T95972991G	HAL	NM_002108.4(HAL):c.*1241A>C	noncoding	Benign
12	95974122	G	T	G95974122T	HAL	NM_002108.4(HAL):c.*110C>A	noncoding	Benign
12	95980697	T	G	T95980697G	HAL	NM_002108.4(HAL):c.1378A>C:p.Ile460Leu	coding	Benign
12	95980785	T	C	T95980785C	HAL	NM_002108.4(HAL):c.1353+13A>G	noncoding	Benign
12	95980836	C	T	C95980836T	HAL	NM_002108.4(HAL):c.1315G>A:p.Val439Ile	coding	Benign
12	95987197	A	G	A95987197G	HAL	NM_002108.4(HAL):c.921T>C:p.Asn307=	coding	Benign
12	95990471	T	C	T95990471C	HAL	NM_002108.4(HAL):c.777A>G:p.Pro259=	coding	Benign
12	95993831	G	A	G95993831A	HAL	NM_002108.4(HAL):c.492C>T:p.Tyr164=	coding	Benign/Likely_benign
12	95993843	A	G	A95993843G	HAL	NM_002108.4(HAL):c.485-5T>C	noncoding	Benign
12	95993987	T	A	T95993987A	HAL	NM_002108.4(HAL):c.423A>T:p.Thr141=	coding	Benign
12	95996123	G	T	G95996123T	HAL	NM_002108.4(HAL):c.-127C>A	noncoding	Benign
12	96006401	T	A	T96006401A	LTA4H	NM_000895.3(LTA4H):c.1443A>T:p.Glu481Asp	coding	Benign
12	96013217	G	A	G96013217A	LTA4H	NM_000895.3(LTA4H):c.1350C>T:p.Tyr450=	coding	Benign
12	96014985	C	T	C96014985T	LTA4H	NM_000895.3(LTA4H):c.1074G>A:p.Gly358=	coding	Benign
12	96018811	A	G	A96018811G	LTA4H	NM_000895.3(LTA4H):c.804T>C:p.Tyr268=	coding	Benign
12	96029046	C	G	C96029046G	LTA4H	NM_000895.3(LTA4H):c.290+9G>C	noncoding	Benign
12	96247566	G	A	G96247566A	ELK3	NM_005230.4(ELK3):c.834G>A:p.Ser278=	coding	Benign
12	96259757	G	A	G96259757A	ELK3	NM_005230.4(ELK3):c.1029G>A:p.Pro343=	coding	Benign
12	96259860	G	A	G96259860A	ELK3	NM_005230.4(ELK3):c.1125+7G>A	noncoding	Benign
12	96297725	C	T	C96297725T	CDK17	NM_002595.5(CDK17):c.716-4G>A	noncoding	Benign
12	98515429	C	T	C98515429T	TMPO	NM_003276.2(TMPO):c.-439C>T	noncoding	Benign
12	98515857	A	C	A98515857C	TMPO	NM_003276.2(TMPO):c.-11A>C	noncoding	Benign/Likely_benign
12	98515948	G	T	G98515948T	TMPO	NM_003276.2(TMPO):c.81G>T:p.Leu27=	coding	Benign
12	98515954	C	T	C98515954T	TMPO	NM_001032283.3(TMPO):c.87C>T:p.Ala29=	coding	Benign
12	98515975	G	T	G98515975T	TMPO	NM_003276.2(TMPO):c.108G>T:p.Val36=	coding	Benign/Likely_benign
12	98516092	G	A	G98516092A	TMPO	NM_001032283.3(TMPO):c.225G>A:p.Pro75=	coding	Benign
12	98527565	C	T	C98527565T	TMPO	NM_003276.2(TMPO):c.280-321C>T	noncoding	Benign
12	98527755	G	T	G98527755T	TMPO	NM_003276.2(TMPO):c.280-131G>T	noncoding	Benign
12	98527784	A	G	A98527784G	TMPO	NM_003276.2(TMPO):c.280-102A>G	noncoding	Benign
12	98527796	G	T	G98527796T	TMPO	NM_003276.2(TMPO):c.280-90G>T	noncoding	Benign
12	98527878	G	A	G98527878A	TMPO	NM_003276.2(TMPO):c.280-8G>A	noncoding	Benign/Likely_benign
12	98527890	C	A	C98527890A	TMPO	NM_003276.2(TMPO):c.284C>A:p.Ala95Asp	coding	Benign
12	98528002	T	A	T98528002A	TMPO	NM_001032283.3(TMPO):c.396T>A:p.Gly132=	coding	Benign/Likely_benign
12	98531584	G	C	G98531584C	TMPO	NM_003276.2(TMPO):c.407-96G>C	noncoding	Benign
12	98531872	G	T	G98531872T	TMPO	NM_003276.2(TMPO):c.565+34G>T	noncoding	Benign
12	98532586	T	C	T98532586C	TMPO	NM_003276.2(TMPO):c.566-237T>C	noncoding	Benign
12	98532943	C	T	C98532943T	TMPO	NM_001032283.3(TMPO):c.565+1105C>T	coding	Benign/Likely_benign
12	98532970	T	G	T98532970G	TMPO	NM_001032283.3(TMPO):c.565+1132T>G	coding	Benign
12	98533078	G	A	G98533078A	TMPO	NM_001032283.3(TMPO):c.565+1240G>A	coding	Benign/Likely_benign
12	98533134	T	G	T98533134G	TMPO	NM_001032283.3(TMPO):c.565+1296T>G	coding	Benign
12	98533136	G	A	G98533136A	TMPO	NM_003276.2(TMPO):c.879G>A:p.Ser293=	coding	Benign/Likely_benign
12	98533182	G	C	G98533182C	TMPO	NM_001032283.3(TMPO):c.565+1344G>C	coding	Benign
12	98533207	C	G	C98533207G	TMPO	NM_001032283.3(TMPO):c.565+1369C>G	coding	Benign
12	98533259	A	G	A98533259G	TMPO	NM_003276.2(TMPO):c.1002A>G:p.Lys334=	coding	Benign
12	98533503	A	G	A98533503G	TMPO	NM_001032283.3(TMPO):c.565+1665A>G	coding	Benign
12	98533566	G	C	G98533566C	TMPO	NM_001032283.3(TMPO):c.565+1728G>C	coding	Benign/Likely_benign
12	98533691	G	C	G98533691C	TMPO	NM_001032283.3(TMPO):c.565+1853G>C	coding	Benign
12	98533728	T	G	T98533728G	TMPO	NM_001032283.3(TMPO):c.565+1890T>G	coding	Benign
12	98533889	T	A	T98533889A	TMPO	NM_001032283.3(TMPO):c.565+2051T>A	coding	Benign
12	98534052	C	G	C98534052G	TMPO	NM_001032283.3(TMPO):c.565+2214C>G	coding	Benign
12	98534225	G	A	G98534225A	TMPO	NM_003276.2(TMPO):c.1968G>A:p.Lys656=	coding	Benign/Likely_benign
12	98544517	G	C	G98544517C	TMPO	NM_001032283.3(TMPO):c.859G>C:p.Ala287Pro	coding	Benign
12	98546355	T	C	T98546355C	TMPO	NM_001032283.3(TMPO):c.991-4T>C	noncoding	Benign
12	98593653	G	A	G98593653A	SLC25A3	NM_005888.3(SLC25A3):c.-92G>A	noncoding	Benign
12	98593667	G	A	G98593667A	SLC25A3	NM_005888.3(SLC25A3):c.-78G>A	noncoding	Benign
12	98593707	C	G	C98593707G	SLC25A3	NM_002635.4(SLC25A3):c.-38C>G	noncoding	Benign
12	98595424	A	G	A98595424G	SLC25A3	NM_002635.4(SLC25A3):c.158-303A>G	noncoding	Pathogenic/Likely_pathogenic
12	98595490	G	A	G98595490A	SLC25A3	NM_002635.4(SLC25A3):c.158-237G>A	coding	Pathogenic
12	98595625	A	G	A98595625G	SLC25A3	NM_002635.4(SLC25A3):c.158-102A>G	noncoding	Benign
12	98598012	T	C	T98598012C	SLC25A3	NM_002635.4(SLC25A3):c.436T>C:p.Leu146=	coding	Benign
12	98598657	T	C	T98598657C	SLC25A3	NM_002635.4(SLC25A3):c.595T>C:p.Leu199=	coding	Benign
12	98598658	T	G	T98598658G	SLC25A3	NM_002635.4(SLC25A3):c.596T>G:p.Leu199Trp	coding	Pathogenic
12	98601285	G	A	G98601285A	SLC25A3	NM_002635.4(SLC25A3):c.925+4G>A	noncoding	Benign
12	98601630	C	A	C98601630A	SLC25A3	NM_002635.4(SLC25A3):c.*102C>A	noncoding	Benign
12	98601739	T	A	T98601739A	SLC25A3	NM_002635.4(SLC25A3):c.*211T>A	noncoding	Benign
12	98601749	T	G	T98601749G	SLC25A3	NM_002635.4(SLC25A3):c.*221T>G	noncoding	Benign
12	98665674	T	C	T98665674C	APAF1	NM_181861.2(APAF1):c.1077T>C:p.Tyr359=	coding	Benign
12	98666331	A	T	A98666331T	APAF1	NM_181861.2(APAF1):c.1336A>T:p.Thr446Ser	coding	Benign
12	98677505	A	C	A98677505C	APAF1	NM_181861.2(APAF1):c.1874A>C:p.Glu625Ala	coding	Benign
12	98683140	T	C	T98683140C	APAF1	NM_181861.2(APAF1):c.2047-3T>C	noncoding	Benign
12	98715542	C	A	C98715542A	APAF1	NM_181861.2(APAF1):c.3074C>A:p.Ala1025Asp	coding	Benign
12	99154346	C	T	C99154346T	ANKS1B	NM_152788.4(ANKS1B):c.2469G>A:p.Gly823=	coding	Benign
12	99154454	G	A	G99154454A	ANKS1B	NM_152788.4(ANKS1B):c.2420-59C>T	coding	Benign
12	99246874	G	A	G99246874A	ANKS1B	NM_152788.4(ANKS1B):c.1757-10C>T	noncoding	Benign
12	99655173	A	G	A99655173G	ANKS1B	NM_152788.4(ANKS1B):c.1166T>C:p.Val389Ala	coding	Benign
12	99775647	C	T	C99775647T	ANKS1B	NM_152788.4(ANKS1B):c.862G>A:p.Val288Met	coding	Benign
12	99806602	T	C	T99806602C	ANKS1B	NM_152788.4(ANKS1B):c.471A>G:p.Arg157=	coding	Benign
12	99812251	C	A	C99812251A	ANKS1B	NM_152788.4(ANKS1B):c.276G>T:p.Gly92=	coding	Benign
12	99984232	C	T	C99984232T	ANKS1B	NM_152788.4(ANKS1B):c.6G>A:p.Gly2=	coding	Benign
12	100047588	A	C	A100047588C	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.4023T>G:p.Thr1341=	coding	Benign
12	100050219	C	T	C100050219T	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.3667G>A:p.Asp1223Asn	coding	Benign
12	100051123	T	C	T100051123C	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.3523A>G:p.Ile1175Val	coding	Benign
12	100051195	A	G	A100051195G	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.3451T>C:p.Tyr1151His	coding	Benign
12	100058058	A	G	A100058058G	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.3219T>C:p.Val1073=	coding	Benign
12	100058284	T	C	T100058284C	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.2993A>G:p.Asp998Gly	coding	Benign
12	100058564	A	T	A100058564T	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.2713T>A:p.Phe905Ile	coding	Benign
12	100058727	G	A	G100058727A	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.2550C>T:p.Gly850=	coding	Benign
12	100059050	T	C	T100059050C	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.2227A>G:p.Thr743Ala	coding	Benign
12	100059213	A	G	A100059213G	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.2064T>C:p.Ser688=	coding	Benign
12	100072750	G	A	G100072750A	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.1471C>T:p.Leu491=	coding	Benign
12	100097395	T	C	T100097395C	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.639A>G:p.Gln213=	coding	Benign
12	100097469	T	G	T100097469G	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.565A>C:p.Arg189=	coding	Benign
12	100103955	C	A	C100103955A	UHRF1BP1L	NM_015054.2(UHRF1BP1L):c.208-4G>T	noncoding	Benign
12	100283076	C	T	C100283076T	SCYL2	NM_017988.6(SCYL2):c.106C>T:p.Arg36Ter	coding	Pathogenic
12	100357174	T	C	T100357174C	SLC17A8	NM_139319.3(SLC17A8):c.-218T>C	noncoding	Benign
12	100357414	C	T	C100357414T	SLC17A8	NM_139319.3(SLC17A8):c.23C>T:p.Thr8Ile	coding	Benign/Likely_benign
12	100357445	G	A	G100357445A	SLC17A8	NM_139319.3(SLC17A8):c.54G>A:p.Lys18=	coding	Benign
12	100380770	G	A	G100380770A	SLC17A8	NM_139319.3(SLC17A8):c.171G>A:p.Thr57=	coding	Benign
12	100380935	T	C	T100380935C	SLC17A8	NM_139319.3(SLC17A8):c.336T>C:p.Asp112=	coding	Benign/Likely_benign
12	100390997	C	A	C100390997A	SLC17A8	NM_139319.3(SLC17A8):c.355-4C>A	noncoding	Benign
12	100401811	G	A	G100401811A	SLC17A8	NM_139319.3(SLC17A8):c.711G>A:p.Leu237=	coding	Benign
12	100401823	G	A	G100401823A	SLC17A8	NM_139319.3(SLC17A8):c.723G>A:p.Leu241=	coding	Benign/Likely_benign
12	100402291	C	T	C100402291T	SLC17A8	NM_139319.3(SLC17A8):c.764-49C>T	noncoding	Benign
12	100402434	T	C	T100402434C	SLC17A8	NM_139319.3(SLC17A8):c.858T>C:p.Tyr286=	coding	Benign/Likely_benign
12	100403992	C	G	C100403992G	SLC17A8	NM_139319.3(SLC17A8):c.1054-46C>G	noncoding	Benign
12	100420198	A	C	A100420198C	SLC17A8	NM_139319.3(SLC17A8):c.*39A>C	noncoding	Benign
12	100420230	T	C	T100420230C	SLC17A8	NM_139319.3(SLC17A8):c.*71T>C	noncoding	Benign
12	100420666	G	A	G100420666A	SLC17A8	NM_139319.3(SLC17A8):c.*507G>A	noncoding	Benign
12	100420976	A	T	A100420976T	SLC17A8	NM_139319.3(SLC17A8):c.*817A>T	noncoding	Benign
12	100421454	T	C	T100421454C	SLC17A8	NM_139319.3(SLC17A8):c.*1295T>C	noncoding	Benign
12	100493323	G	T	G100493323T	NR1H4	NM_001206979.2(NR1H4):c.-1G>T	noncoding	Benign
12	100510780	G	A	G100510780A	NR1H4	NM_001206979.2(NR1H4):c.82G>A:p.Val28Ile	coding	Benign
12	100532538	C	T	C100532538T	NR1H4	NM_001206979.2(NR1H4):c.526C>T:p.Arg176Ter	coding	Pathogenic
12	100532559	C	T	C100532559T	NR1H4	NM_001206979.2(NR1H4):c.547C>T:p.Arg183Ter	coding	Pathogenic
12	100536618	T	A	T100536618A	NR1H4	NM_001206979.2(NR1H4):c.831+8T>A	noncoding	Benign
12	100536932	T	A	T100536932A	NR1H4	NM_001206979.2(NR1H4):c.832-16T>A	noncoding	Benign
12	100537066	A	C	A100537066C	NR1H4	NM_001206979.2(NR1H4):c.931+19A>C	noncoding	Benign
12	100600423	T	A	T100600423A	GAS2L3	NM_174942.3(GAS2L3):c.60T>A:p.Pro20=	coding	Benign
12	100623990	G	A	G100623990A	GAS2L3	NM_174942.3(GAS2L3):c.1185G>A:p.Pro395=	coding	Benign
12	100624033	A	C	A100624033C	GAS2L3	NM_174942.3(GAS2L3):c.1228A>C:p.Asn410His	coding	Benign
12	100624061	C	T	C100624061T	GAS2L3	NM_174942.3(GAS2L3):c.1256C>T:p.Pro419Leu	coding	Benign
12	100624283	C	T	C100624283T	GAS2L3	NM_174942.3(GAS2L3):c.1478C>T:p.Ser493Leu	coding	Benign
12	101120541	G	A	G101120541A	ANO4	NM_001286615.2(ANO4):c.2592G>A:p.Pro864=	coding	Benign
12	101157287	G	A	G101157287A	SLC5A8	NM_145913.5(SLC5A8):c.1825C>T:p.Arg609Cys	coding	Benign
12	101190550	A	C	A101190550C	SLC5A8	NM_145913.5(SLC5A8):c.751T>G:p.Phe251Val	coding	Benign
12	101209491	C	G	C101209491G	SLC5A8	NM_145913.5(SLC5A8):c.351+7G>C	noncoding	Benign
12	101209765	G	A	G101209765A	SLC5A8	NM_145913.5(SLC5A8):c.84C>T:p.Ile28=	coding	Benign
12	101209819	G	T	G101209819T	SLC5A8	NM_145913.5(SLC5A8):c.30C>A:p.Phe10Leu	coding	Benign
12	101281124	A	G	A101281124G	UTP20	NM_014503.3(UTP20):c.54A>G:p.Thr18=	coding	Benign
12	101286399	G	A	G101286399A	UTP20	NM_014503.3(UTP20):c.405G>A:p.Ser135=	coding	Benign
12	101286495	G	A	G101286495A	UTP20	NM_014503.3(UTP20):c.501G>A:p.Met167Ile	coding	Benign
12	101290282	A	C	A101290282C	UTP20	NM_014503.3(UTP20):c.735+8A>C	noncoding	Benign
12	101291762	C	T	C101291762T	UTP20	NM_014503.3(UTP20):c.912C>T:p.His304=	coding	Benign
12	101291865	C	A	C101291865A	UTP20	NM_014503.3(UTP20):c.1015C>A:p.Pro339Thr	coding	Benign
12	101292060	A	T	A101292060T	UTP20	NM_014503.3(UTP20):c.1129A>T:p.Asn377Tyr	coding	Benign
12	101338850	T	C	T101338850C	UTP20	NM_014503.3(UTP20):c.3906T>C:p.His1302=	coding	Benign
12	101363586	A	G	A101363586G	UTP20	NM_014503.3(UTP20):c.5801A>G:p.His1934Arg	coding	Benign
12	101363720	A	G	A101363720G	UTP20	NM_014503.3(UTP20):c.5935A>G:p.Lys1979Glu	coding	Benign
12	101366591	A	G	A101366591G	UTP20	NM_014503.3(UTP20):c.6159A>G:p.Leu2053=	coding	Benign
12	101367937	G	A	G101367937A	UTP20	NM_014503.3(UTP20):c.6345G>A:p.Val2115=	coding	Benign
12	101367975	A	G	A101367975G	UTP20	NM_014503.3(UTP20):c.6383A>G:p.Lys2128Arg	coding	Benign
12	101369853	A	G	A101369853G	UTP20	NM_014503.3(UTP20):c.6517A>G:p.Arg2173Gly	coding	Benign
12	101383181	G	A	G101383181A	UTP20	NM_014503.3(UTP20):c.7797G>A:p.Ala2599=	coding	Benign
12	101486372	C	T	C101486372T	SPIC	NM_152323.3(SPIC):c.348C>T:p.Tyr116=	coding	Benign
12	101486510	G	A	G101486510A	SPIC	NM_152323.3(SPIC):c.486G>A:p.Lys162=	coding	Benign
12	101594978	C	T	C101594978T	MYBPC1	NM_002465.4(MYBPC1):c.-93C>T	noncoding	Benign
12	101594996	G	T	G101594996T	MYBPC1	NM_002465.4(MYBPC1):c.-75G>T	noncoding	Benign
12	101595025	C	T	C101595025T	MYBPC1	NM_002465.4(MYBPC1):c.-46C>T	noncoding	Benign
12	101595058	T	C	T101595058C	MYBPC1	NM_002465.4(MYBPC1):c.-13T>C	noncoding	Benign
12	101595087	A	T	A101595087T	MYBPC1	NM_002465.4(MYBPC1):c.17A>T:p.Lys6Met	coding	Benign
12	101614487	C	T	C101614487T	MYBPC1	NM_002465.4(MYBPC1):c.26-9C>T	noncoding	Benign
12	101617224	C	T	C101617224T	MYBPC1	NM_002465.4(MYBPC1):c.84C>T:p.Ala28=	coding	Benign
12	101626862	C	A	C101626862A	MYBPC1	NM_002465.4(MYBPC1):c.104-10C>A	noncoding	Benign
12	101627811	G	A	G101627811A	MYBPC1	NM_002465.4(MYBPC1):c.178+7G>A	noncoding	Benign
12	101629446	T	C	T101629446C	MYBPC1	NM_002465.4(MYBPC1):c.191T>C:p.Val64Ala	coding	Benign
12	101629447	C	T	C101629447T	MYBPC1	NM_002465.4(MYBPC1):c.192C>T:p.Val64=	coding	Benign/Likely_benign
12	101631701	C	T	C101631701T	MYBPC1	NM_002465.4(MYBPC1):c.420C>T:p.Thr140=	coding	Benign/Likely_benign
12	101631728	C	G	C101631728G	MYBPC1	NM_002465.4(MYBPC1):c.438+9C>G	noncoding	Benign
12	101632147	G	A	G101632147A	MYBPC1	NM_002465.4(MYBPC1):c.556+9G>A	noncoding	Benign
12	101632148	C	G	C101632148G	MYBPC1	NM_002465.4(MYBPC1):c.556+10C>G	noncoding	Benign
12	101634544	C	T	C101634544T	MYBPC1	NM_002465.4(MYBPC1):c.557-10C>T	noncoding	Benign
12	101634591	T	C	T101634591C	MYBPC1	NM_002465.4(MYBPC1):c.594T>C:p.Ser198=	coding	Benign/Likely_benign
12	101634614	A	G	A101634614G	MYBPC1	NM_002465.4(MYBPC1):c.608+9A>G	noncoding	Benign/Likely_benign
12	101634619	A	G	A101634619G	MYBPC1	NM_002465.4(MYBPC1):c.608+14A>G	noncoding	Benign
12	101642459	T	C	T101642459C	MYBPC1	NM_002465.4(MYBPC1):c.706T>C:p.Trp236Arg	coding	Pathogenic
12	101642492	T	C	T101642492C	MYBPC1	NM_002465.4(MYBPC1):c.739T>C:p.Tyr247His	coding	Pathogenic
12	101642495	G	A	G101642495A	MYBPC1	NM_002465.4(MYBPC1):c.742G>A:p.Glu248Lys	coding	Pathogenic
12	101642503	C	A	C101642503A	MYBPC1	NM_002465.4(MYBPC1):c.750C>A:p.Ile250=	coding	Benign
12	101642527	C	T	C101642527T	MYBPC1	NM_002465.4(MYBPC1):c.774C>T:p.Asp258=	coding	Benign
12	101642541	T	G	T101642541G	MYBPC1	NM_002465.4(MYBPC1):c.788T>G:p.Leu263Arg	coding	Pathogenic/Likely_pathogenic
12	101644783	C	T	C101644783T	MYBPC1	NM_002465.4(MYBPC1):c.952C>T:p.Arg318Ter	coding	Pathogenic
12	101649300	A	G	A101649300G	MYBPC1	NM_002465.4(MYBPC1):c.1237A>G:p.Arg413Gly	coding	Benign
12	101649313	G	A	G101649313A	MYBPC1	NM_002465.4(MYBPC1):c.1250G>A:p.Arg417Lys	coding	Benign
12	101651253	A	T	A101651253T	MYBPC1	NM_002465.4(MYBPC1):c.1386A>T:p.Thr462=	coding	Benign
12	101651290	A	G	A101651290G	MYBPC1	NM_002465.4(MYBPC1):c.1423A>G:p.Ile475Val	coding	Benign
12	101651324	C	A	C101651324A	MYBPC1	NM_002465.4(MYBPC1):c.1457C>A:p.Pro486Gln	coding	Benign
12	101651385	C	G	C101651385G	MYBPC1	NM_002465.4(MYBPC1):c.1518C>G:p.His506Gln	coding	Benign
12	101651399	C	T	C101651399T	MYBPC1	NM_002465.4(MYBPC1):c.1526+6C>T	noncoding	Benign
12	101653132	C	T	C101653132T	MYBPC1	NM_002465.4(MYBPC1):c.1651C>T:p.Leu551=	coding	Benign
12	101661139	T	G	T101661139G	MYBPC1	NM_002465.4(MYBPC1):c.1928-19T>G	noncoding	Benign
12	101661240	C	T	C101661240T	MYBPC1	NM_002465.4(MYBPC1):c.2010C>T:p.Tyr670=	coding	Benign
12	101661243	C	T	C101661243T	MYBPC1	NM_002465.4(MYBPC1):c.2013C>T:p.Asp671=	coding	Benign
12	101663475	G	A	G101663475A	MYBPC1	NM_002465.4(MYBPC1):c.2271G>A:p.Thr757=	coding	Benign
12	101663524	T	C	T101663524C	MYBPC1	NM_002465.4(MYBPC1):c.2320T>C:p.Leu774=	coding	Benign/Likely_benign
12	101667883	C	T	C101667883T	MYBPC1	NM_002465.4(MYBPC1):c.2508C>T:p.Leu836=	coding	Benign
12	101670335	C	T	C101670335T	MYBPC1	NM_002465.4(MYBPC1):c.2539C>T:p.Arg847Cys	coding	Benign
12	101670340	T	C	T101670340C	MYBPC1	NM_002465.4(MYBPC1):c.2544T>C:p.Ile848=	coding	Benign
12	101673634	T	C	T101673634C	MYBPC1	NM_002465.4(MYBPC1):c.2809+12T>C	noncoding	Benign
12	101675299	A	G	A101675299G	MYBPC1	NM_002465.4(MYBPC1):c.2817A>G:p.Pro939=	coding	Benign
12	101680498	A	G	A101680498G	MYBPC1	NM_002465.4(MYBPC1):c.3402A>G:p.Thr1134=	coding	Benign
12	101684427	A	G	A101684427G	MYBPC1	NM_002465.4(MYBPC1):c.19+3A>G	noncoding	Benign
12	101685607	C	T	C101685607T	MYBPC1	NM_002465.4(MYBPC1):c.*45C>T	coding	Benign
12	101685640	G	A	G101685640A	MYBPC1	NM_002465.4(MYBPC1):c.*78G>A	coding	Benign
12	101685731	G	T	G101685731T	MYBPC1	NM_002465.4(MYBPC1):c.*169G>T	noncoding	Benign
12	101685879	C	A	C101685879A	MYBPC1	NM_002465.4(MYBPC1):c.*317C>A	noncoding	Benign
12	101723803	T	C	T101723803C	CHPT1	NM_020244.3(CHPT1):c.1021T>C:p.Phe341Leu	coding	Benign
12	101726374	C	T	C101726374T	CHPT1	NM_020244.3(CHPT1):c.1146C>T:p.Phe382=	coding	Benign
12	101728722	C	T	C101728722T	SYCP3	NM_001177949.2(SYCP3):c.*205G>A	coding	Benign
12	101728744	T	C	T101728744C	SYCP3	NM_001177949.2(SYCP3):c.*183A>G	coding	Benign
12	101728972	T	C	T101728972C	SYCP3	NM_001177949.2(SYCP3):c.666A>G:p.Gln222=	coding	Benign
12	101729109	A	G	A101729109G	SYCP3	NM_001177949.2(SYCP3):c.657T>C:p.Thr219=	coding	Pathogenic
12	101733593	T	C	T101733593C	SYCP3	NM_001177949.2(SYCP3):c.435A>G:p.Glu145=	coding	Benign
12	101737877	T	C	T101737877C	SYCP3	NM_001177949.2(SYCP3):c.59A>G:p.Gln20Arg	coding	Benign
12	101739386	G	C	G101739386C	SYCP3	NM_001177949.2(SYCP3):c.-53C>G	noncoding	Benign
12	101739439	T	C	T101739439C	SYCP3	NM_001177949.2(SYCP3):c.-106A>G	noncoding	Benign
12	101739455	A	T	A101739455T	SYCP3	NM_001177949.2(SYCP3):c.-122T>A	noncoding	Benign
12	101745707	T	C	T101745707C	GNPTAB	NM_024312.5(GNPTAB):c.*1457A>G	noncoding	Benign
12	101745924	A	G	A101745924G	GNPTAB	NM_024312.5(GNPTAB):c.*1240T>C	noncoding	Benign
12	101745969	T	G	T101745969G	GNPTAB	NM_024312.5(GNPTAB):c.*1195A>C	noncoding	Benign
12	101746350	A	C	A101746350C	GNPTAB	NM_024312.5(GNPTAB):c.*814T>G	noncoding	Benign
12	101746552	A	G	A101746552G	GNPTAB	NM_024312.5(GNPTAB):c.*612T>C	noncoding	Benign
12	101747021	C	T	C101747021T	GNPTAB	NM_024312.5(GNPTAB):c.*143G>A	noncoding	Benign
12	101747121	G	A	G101747121A	GNPTAB	NM_024312.5(GNPTAB):c.*43C>T	noncoding	Benign
12	101749091	T	A	T101749091A	GNPTAB	NM_024312.5(GNPTAB):c.3693+10A>T	noncoding	Benign
12	101749181	G	A	G101749181A	GNPTAB	NM_024312.5(GNPTAB):c.3613C>T:p.Arg1205Ter	coding	Pathogenic
12	101749192	C	T	C101749192T	GNPTAB	NM_024312.5(GNPTAB):c.3603-1G>A	coding	Pathogenic
12	101753364	G	T	G101753364T	GNPTAB	NM_024312.5(GNPTAB):c.3602+8C>A	noncoding	Benign
12	101753372	C	T	C101753372T	GNPTAB	NM_024312.5(GNPTAB):c.3602G>A:p.Trp1201Ter	coding	Pathogenic/Likely_pathogenic
12	101753409	G	A	G101753409A	GNPTAB	NM_024312.5(GNPTAB):c.3565C>T:p.Arg1189Ter	coding	Pathogenic
12	101753516	T	C	T101753516C	GNPTAB	NM_024312.5(GNPTAB):c.3458A>G:p.Asn1153Ser	coding	Pathogenic
12	101753540	C	T	C101753540T	GNPTAB	NM_024312.5(GNPTAB):c.3435-1G>A	coding	Pathogenic
12	101757100	G	C	G101757100C	GNPTAB	NM_024312.5(GNPTAB):c.3434+112C>G	noncoding	Benign
12	101757211	C	T	C101757211T	GNPTAB	NM_024312.5(GNPTAB):c.3434+1G>A	noncoding	Pathogenic
12	101757236	A	T	A101757236T	GNPTAB	NM_024312.5(GNPTAB):c.3410T>A:p.Leu1137Ter	coding	Pathogenic
12	101757335	A	G	A101757335G	GNPTAB	NM_024312.5(GNPTAB):c.3336-25T>C	noncoding	Benign
12	101757566	A	C	A101757566C	GNPTAB	NM_024312.5(GNPTAB):c.3335+6T>G	noncoding	Pathogenic
12	101757571	C	T	C101757571T	GNPTAB	NM_024312.5(GNPTAB):c.3335+1G>A	noncoding	Pathogenic
12	101757659	T	C	T101757659C	GNPTAB	NM_024312.5(GNPTAB):c.3250-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	101760029	C	G	C101760029G	GNPTAB	NM_024312.5(GNPTAB):c.3249+1G>C	noncoding	Pathogenic
12	101760029	C	T	C101760029T	GNPTAB	NM_024312.5(GNPTAB):c.3249+1G>A	noncoding	Pathogenic
12	101760082	G	A	G101760082A	GNPTAB	NM_024312.5(GNPTAB):c.3197C>T:p.Thr1066Met	coding	Benign/Likely_benign
12	101760106	G	C	G101760106C	GNPTAB	NM_024312.5(GNPTAB):c.3173C>G:p.Ser1058Ter	coding	Pathogenic
12	101760119	G	C	G101760119C	GNPTAB	NM_024312.5(GNPTAB):c.3160C>G:p.Leu1054Val	coding	Pathogenic
12	101761122	A	G	A101761122G	GNPTAB	NM_024312.5(GNPTAB):c.3135+5T>C	noncoding	Benign
12	101761171	G	A	G101761171A	GNPTAB	NM_024312.5(GNPTAB):c.3091C>T:p.Arg1031Ter	coding	Pathogenic
12	101761201	G	A	G101761201A	GNPTAB	NM_024312.5(GNPTAB):c.3061C>T:p.Gln1021Ter	coding	Pathogenic
12	101761209	T	C	T101761209C	GNPTAB	NM_024312.5(GNPTAB):c.3053A>G:p.Asp1018Gly	coding	Pathogenic
12	101761260	A	G	A101761260G	GNPTAB	NM_024312.5(GNPTAB):c.3002T>C:p.Leu1001Pro	coding	Pathogenic
12	101761271	A	C	A101761271C	GNPTAB	NM_024312.5(GNPTAB):c.2991T>G:p.Tyr997Ter	coding	Pathogenic
12	101761612	T	C	T101761612C	GNPTAB	NM_024312.5(GNPTAB):c.2867A>G:p.His956Arg	coding	Pathogenic
12	101761613	G	A	G101761613A	GNPTAB	NM_024312.5(GNPTAB):c.2866C>T:p.His956Tyr	coding	Pathogenic
12	101761702	T	G	T101761702G	GNPTAB	NM_024312.5(GNPTAB):c.2777A>C:p.Gln926Pro	coding	Pathogenic
12	101764200	A	C	A101764200C	GNPTAB	NM_024312.5(GNPTAB):c.2715+2T>G	noncoding	Pathogenic/Likely_pathogenic
12	101764201	C	T	C101764201T	GNPTAB	NM_024312.5(GNPTAB):c.2715+1G>A	noncoding	Pathogenic
12	101764236	C	T	C101764236T	GNPTAB	NM_024312.5(GNPTAB):c.2681G>A:p.Trp894Ter	coding	Pathogenic
12	101764252	A	G	A101764252G	GNPTAB	NM_024312.5(GNPTAB):c.2665T>C:p.Leu889=	coding	Benign/Likely_benign
12	101764253	G	C	G101764253C	GNPTAB	NM_024312.5(GNPTAB):c.2664C>G:p.Tyr888Ter	coding	Pathogenic
12	101764306	C	T	C101764306T	GNPTAB	NM_024312.5(GNPTAB):c.2611G>A:p.Gly871Ser	coding	Benign/Likely_benign
12	101764384	G	A	G101764384A	GNPTAB	NM_024312.5(GNPTAB):c.2533C>T:p.Gln845Ter	coding	Pathogenic
12	101764436	G	A	G101764436A	GNPTAB	NM_024312.5(GNPTAB):c.2481C>T:p.Gly827=	coding	Benign
12	101764513	G	A	G101764513A	GNPTAB	NM_024312.5(GNPTAB):c.2404C>T:p.Gln802Ter	coding	Pathogenic
12	101764563	A	C	A101764563C	GNPTAB	NM_024312.5(GNPTAB):c.2354T>G:p.Leu785Trp	coding	Pathogenic
12	101764721	C	A	C101764721A	GNPTAB	NM_024312.5(GNPTAB):c.2196G>T:p.Lys732Asn	coding	Pathogenic
12	101764898	T	C	T101764898C	GNPTAB	NM_024312.5(GNPTAB):c.2019A>G:p.Lys673=	coding	Benign
12	101764918	C	A	C101764918A	GNPTAB	NM_024312.5(GNPTAB):c.1999G>T:p.Glu667Ter	coding	Pathogenic
12	101764931	C	T	C101764931T	GNPTAB	NM_024312.5(GNPTAB):c.1986G>A:p.Ala662=	coding	Benign/Likely_benign
12	101764932	G	C	G101764932C	GNPTAB	NM_024312.5(GNPTAB):c.1985C>G:p.Ala662Gly	coding	Pathogenic
12	101764962	A	C	A101764962C	GNPTAB	NM_024312.5(GNPTAB):c.1955T>G:p.Leu652Ter	coding	Pathogenic
12	101764985	T	C	T101764985C	GNPTAB	NM_024312.5(GNPTAB):c.1932A>G:p.Thr644=	coding	Benign
12	101764986	G	A	G101764986A	GNPTAB	NM_024312.5(GNPTAB):c.1931C>T:p.Thr644Ile	coding	Benign
12	101765158	G	A	G101765158A	GNPTAB	NM_024312.5(GNPTAB):c.1759C>T:p.Arg587Ter	coding	Pathogenic
12	101765167	G	T	G101765167T	GNPTAB	NM_024312.5(GNPTAB):c.1750C>A:p.Pro584Thr	coding	Benign/Likely_benign
12	101765291	T	C	T101765291C	GNPTAB	NM_024312.5(GNPTAB):c.1626A>G:p.Glu542=	coding	Benign/Likely_benign
12	101766063	A	G	A101766063G	GNPTAB	NM_024312.5(GNPTAB):c.1612+28T>C	noncoding	Benign
12	101766184	G	A	G101766184A	GNPTAB	NM_024312.5(GNPTAB):c.1519C>T:p.Gln507Ter	coding	Pathogenic
12	101766189	C	T	C101766189T	GNPTAB	NM_024312.5(GNPTAB):c.1514G>A:p.Cys505Tyr	coding	Pathogenic/Likely_pathogenic
12	101766203	G	A	G101766203A	GNPTAB	NM_024312.5(GNPTAB):c.1500C>T:p.Asn500=	coding	Benign
12	101766221	C	T	C101766221T	GNPTAB	NM_024312.5(GNPTAB):c.1482G>A:p.Gln494=	coding	Benign
12	101768043	A	T	A101768043T	GNPTAB	NM_024312.5(GNPTAB):c.1402T>A:p.Cys468Ser	coding	Pathogenic
12	101768064	A	C	A101768064C	GNPTAB	NM_024312.5(GNPTAB):c.1381T>G:p.Cys461Gly	coding	Pathogenic
12	101768147	C	T	C101768147T	GNPTAB	NM_024312.5(GNPTAB):c.1298G>A:p.Trp433Ter	coding	Pathogenic
12	101768162	T	C	T101768162C	GNPTAB	NM_024312.5(GNPTAB):c.1285-2A>G	noncoding	Pathogenic
12	101768326	C	T	C101768326T	GNPTAB	NM_024312.5(GNPTAB):c.1285-166G>A	noncoding	Benign
12	101770058	C	T	C101770058T	GNPTAB	NM_024312.5(GNPTAB):c.1247G>A:p.Trp416Ter	coding	Pathogenic
12	101770085	T	G	T101770085G	GNPTAB	NM_024312.5(GNPTAB):c.1220A>C:p.Asp407Ala	coding	Pathogenic
12	101770097	A	G	A101770097G	GNPTAB	NM_024312.5(GNPTAB):c.1208T>C:p.Ile403Thr	coding	Pathogenic
12	101770109	G	A	G101770109A	GNPTAB	NM_024312.5(GNPTAB):c.1196C>T:p.Ser399Phe	coding	Pathogenic
12	101770182	G	A	G101770182A	GNPTAB	NM_024312.5(GNPTAB):c.1123C>T:p.Arg375Ter	coding	Pathogenic
12	101770185	A	G	A101770185G	GNPTAB	NM_024312.5(GNPTAB):c.1120T>C:p.Phe374Leu	coding	Pathogenic
12	101770208	A	G	A101770208G	GNPTAB	NM_024312.5(GNPTAB):c.1114-17T>C	noncoding	Benign
12	101770429	G	A	G101770429A	GNPTAB	NM_024312.5(GNPTAB):c.1090C>T:p.Arg364Ter	coding	Pathogenic
12	101770477	T	G	T101770477G	GNPTAB	NM_024312.5(GNPTAB):c.1042A>C:p.Ile348Leu	coding	Benign/Likely_benign
12	101770518	C	T	C101770518T	GNPTAB	NM_024312.5(GNPTAB):c.1001G>A:p.Arg334Gln	coding	Pathogenic
12	101770519	G	A	G101770519A	GNPTAB	NM_024312.5(GNPTAB):c.1000C>T:p.Arg334Ter	coding	Pathogenic/Likely_pathogenic
12	101770579	G	A	G101770579A	GNPTAB	NM_024312.5(GNPTAB):c.940C>T:p.Gln314Ter	coding	Pathogenic
12	101771097	G	A	G101771097A	GNPTAB	NM_024312.5(GNPTAB):c.832C>T:p.Gln278Ter	coding	Pathogenic
12	101771305	A	G	A101771305G	GNPTAB	NM_024312.5(GNPTAB):c.772-148T>C	noncoding	Benign
12	101780145	T	G	T101780145G	GNPTAB	NM_024312.5(GNPTAB):c.771+7A>C	noncoding	Benign
12	101780152	C	T	C101780152T	GNPTAB	NM_024312.5(GNPTAB):c.771G>A:p.Leu257=	coding	Pathogenic
12	101780287	C	T	C101780287T	GNPTAB	NM_024312.5(GNPTAB):c.637-1G>A	coding	Pathogenic
12	101786009	T	G	T101786009G	GNPTAB	NM_024312.5(GNPTAB):c.571+3A>C	noncoding	Pathogenic
12	101786206	A	T	A101786206T	GNPTAB	NM_024312.5(GNPTAB):c.377T>A:p.Leu126Ter	coding	Pathogenic
12	101786450	C	T	C101786450T	GNPTAB	NM_024312.5(GNPTAB):c.366-233G>A	noncoding	Benign
12	101788403	G	A	G101788403A	GNPTAB	NM_024312.5(GNPTAB):c.365+145C>T	noncoding	Benign
12	101789939	T	A	T101789939A	GNPTAB	NM_024312.5(GNPTAB):c.322A>T:p.Arg108Ter	coding	Pathogenic
12	101789951	G	A	G101789951A	GNPTAB	NM_024312.5(GNPTAB):c.310C>T:p.Gln104Ter	coding	Pathogenic
12	101790019	C	A	C101790019A	GNPTAB	NM_024312.5(GNPTAB):c.242G>T:p.Trp81Leu	coding	Pathogenic
12	101790033	G	A	G101790033A	GNPTAB	NM_024312.5(GNPTAB):c.228C>T:p.Asp76=	coding	Benign
12	101790072	C	A	C101790072A	GNPTAB	NM_024312.5(GNPTAB):c.204-15G>T	noncoding	Benign
12	101790160	C	A	C101790160A	GNPTAB	NM_024312.5(GNPTAB):c.204-103G>T	noncoding	Benign
12	101790293	C	T	C101790293T	GNPTAB	NM_024312.5(GNPTAB):c.204-236G>A	noncoding	Benign
12	101796712	A	T	A101796712T	GNPTAB	NM_024312.5(GNPTAB):c.168T>A:p.Tyr56Ter	coding	Pathogenic
12	101796743	C	T	C101796743T	GNPTAB	NM_024312.5(GNPTAB):c.137G>A:p.Arg46Gln	coding	Benign/Likely_benign
12	101796744	G	A	G101796744A	GNPTAB	NM_024312.5(GNPTAB):c.136C>T:p.Arg46Ter	coding	Pathogenic
12	101796744	G	T	G101796744T	GNPTAB	NM_024312.5(GNPTAB):c.136C>A:p.Arg46=	coding	Benign/Likely_benign
12	101796764	T	C	T101796764C	GNPTAB	NM_024312.5(GNPTAB):c.118-2A>G	noncoding	Pathogenic
12	101830344	G	A	G101830344A	GNPTAB	NM_024312.5(GNPTAB):c.117+215C>T	noncoding	Benign
12	101830632	G	T	G101830632T	GNPTAB	NM_024312.5(GNPTAB):c.44C>A:p.Ser15Tyr	coding	Pathogenic
12	101830649	C	T	C101830649T	GNPTAB	NM_024312.5(GNPTAB):c.27G>A:p.Gln9=	coding	Benign
12	101830654	T	C	T101830654C	GNPTAB	NM_024312.5(GNPTAB):c.22A>G:p.Arg8Gly	coding	Pathogenic
12	101830658	C	T	C101830658T	GNPTAB	NM_024312.5(GNPTAB):c.18G>A:p.Leu6=	coding	Benign
12	101830820	C	T	C101830820T	GNPTAB	NM_024312.5(GNPTAB):c.-145G>A	noncoding	Benign
12	101830832	G	T	G101830832T	GNPTAB	NM_024312.5(GNPTAB):c.-157C>A	noncoding	Benign
12	102197022	C	A	C102197022A	PMCH	NM_002674.4(PMCH):c.399G>T:p.Gly133=	coding	Benign
12	102396074	C	G	C102396074G	IGF1	NM_000618.5(IGF1):c.*6433G>C	noncoding	Benign
12	102396123	G	A	G102396123A	IGF1	NM_000618.5(IGF1):c.*6384C>T	noncoding	Benign
12	102396196	A	G	A102396196G	IGF1	NM_000618.5(IGF1):c.*6311T>C	noncoding	Benign
12	102396414	C	T	C102396414T	IGF1	NM_000618.5(IGF1):c.*6093G>A	noncoding	Benign
12	102397237	A	C	A102397237C	IGF1	NM_000618.5(IGF1):c.*5270T>G	noncoding	Benign
12	102397305	A	C	A102397305C	IGF1	NM_000618.5(IGF1):c.*5202T>G	noncoding	Benign
12	102397971	A	G	A102397971G	IGF1	NM_000618.5(IGF1):c.*4536T>C	noncoding	Benign
12	102398498	C	T	C102398498T	IGF1	NM_000618.5(IGF1):c.*4009G>A	noncoding	Benign
12	102398536	T	C	T102398536C	IGF1	NM_000618.5(IGF1):c.*3971A>G	noncoding	Benign
12	102398955	G	A	G102398955A	IGF1	NM_000618.5(IGF1):c.*3552C>T	noncoding	Benign
12	102399119	G	A	G102399119A	IGF1	NM_000618.5(IGF1):c.*3388C>T	noncoding	Benign
12	102399281	G	C	G102399281C	IGF1	NM_000618.5(IGF1):c.*3226C>G	noncoding	Benign
12	102399791	C	T	C102399791T	IGF1	NM_000618.5(IGF1):c.*2716G>A	noncoding	Benign
12	102399855	A	G	A102399855G	IGF1	NM_000618.5(IGF1):c.*2652T>C	noncoding	Benign
12	102400008	A	C	A102400008C	IGF1	NM_000618.5(IGF1):c.*2499T>G	noncoding	Benign
12	102400143	T	C	T102400143C	IGF1	NM_000618.5(IGF1):c.*2364A>G	noncoding	Benign
12	102400241	A	C	A102400241C	IGF1	NM_000618.5(IGF1):c.*2266T>G	noncoding	Benign
12	102400737	G	A	G102400737A	IGF1	NM_000618.5(IGF1):c.*1770C>T	noncoding	Benign
12	102401736	A	G	A102401736G	IGF1	NM_000618.5(IGF1):c.*771T>C	noncoding	Benign
12	102402201	T	C	T102402201C	IGF1	NM_000618.5(IGF1):c.*306A>G	noncoding	Benign
12	102402244	A	T	A102402244T	IGF1	NM_000618.5(IGF1):c.*263T>A	noncoding	Benign/Likely_benign
12	102402246	T	A	T102402246A	IGF1	NM_000618.5(IGF1):c.*261A>T	noncoding	Benign
12	102419568	C	T	C102419568T	IGF1	NM_000618.5(IGF1):c.343G>A:p.Ala115Thr	coding	Benign
12	102419619	G	A	G102419619A	IGF1	NM_000618.5(IGF1):c.292C>T:p.Arg98Trp	coding	Pathogenic
12	102419637	C	T	C102419637T	IGF1	NM_000618.5(IGF1):c.274G>A:p.Val92Met	coding	Pathogenic
12	102475707	C	T	C102475707T	IGF1	NM_000618.5(IGF1):c.156G>A:p.Thr52=	coding	Benign/Likely_benign
12	102838988	C	T	C102838988T	PAH	NM_000277.3(PAH):c.*187G>A	noncoding	Benign
12	102839194	G	T	G102839194T	PAH	NM_000277.3(PAH):c.1340C>A:p.Ala447Asp	coding	Pathogenic
12	102839219	C	T	C102839219T	PAH	NM_000277.3(PAH):c.1316-1G>A	coding	Pathogenic
12	102839220	T	G	T102839220G	PAH	NM_000277.3(PAH):c.1316-2A>C	noncoding	Pathogenic
12	102839253	G	A	G102839253A	PAH	NM_000277.3(PAH):c.1316-35C>T	noncoding	Benign
12	102840394	A	T	A102840394T	PAH	NM_000277.3(PAH):c.1315+6T>A	noncoding	Pathogenic
12	102840399	C	T	C102840399T	PAH	NM_000277.3(PAH):c.1315+1G>A	noncoding	Pathogenic
12	102840437	A	G	A102840437G	PAH	NM_000277.3(PAH):c.1278T>C:p.Asn426=	coding	Benign
12	102840459	T	C	T102840459C	PAH	NM_000277.3(PAH):c.1256A>G:p.Gln419Arg	coding	Pathogenic/Likely_pathogenic
12	102840463	T	G	T102840463G	PAH	NM_000277.3(PAH):c.1252A>C:p.Thr418Pro	coding	Pathogenic
12	102840466	A	G	A102840466G	PAH	NM_000277.3(PAH):c.1249T>C:p.Tyr417His	coding	Pathogenic
12	102840472	C	T	C102840472T	PAH	NM_000277.3(PAH):c.1243G>A:p.Asp415Asn	coding	Pathogenic
12	102840473	G	A	G102840473A	PAH	NM_000277.3(PAH):c.1242C>T:p.Tyr414=	coding	Benign
12	102840474	T	C	T102840474C	PAH	NM_000277.3(PAH):c.1241A>G:p.Tyr414Cys	coding	Pathogenic
12	102840477	C	G	C102840477G	PAH	NM_000277.3(PAH):c.1238G>C:p.Arg413Pro	coding	Pathogenic
12	102840477	C	T	C102840477T	PAH	NM_000277.3(PAH):c.1238G>A:p.Arg413His	coding	Pathogenic
12	102840492	C	T	C102840492T	PAH	NM_000277.3(PAH):c.1223G>A:p.Arg408Gln	coding	Pathogenic
12	102840493	G	A	G102840493A	PAH	NM_000277.3(PAH):c.1222C>T:p.Arg408Trp	coding	Pathogenic
12	102840495	G	A	G102840495A	PAH	NM_000277.3(PAH):c.1220C>T:p.Pro407Leu	coding	Pathogenic
12	102840507	G	A	G102840507A	PAH	NM_000277.3(PAH):c.1208C>T:p.Ala403Val	coding	Pathogenic
12	102840516	C	G	C102840516G	PAH	NM_000277.3(PAH):c.1200-1G>C	coding	Pathogenic
12	102840516	C	T	C102840516T	PAH	NM_000277.3(PAH):c.1200-1G>A	coding	Pathogenic/Likely_pathogenic
12	102840517	T	C	T102840517C	PAH	NM_000277.3(PAH):c.1200-2A>G	noncoding	Pathogenic
12	102840517	T	G	T102840517G	PAH	NM_000277.3(PAH):c.1200-2A>C	noncoding	Pathogenic
12	102843629	C	T	C102843629T	PAH	NM_000277.3(PAH):c.1199+17G>A	noncoding	Pathogenic/Likely_pathogenic
12	102843645	C	G	C102843645G	PAH	NM_000277.3(PAH):c.1199+1G>C	noncoding	Pathogenic
12	102843645	C	T	C102843645T	PAH	NM_000277.3(PAH):c.1199+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	102843646	C	G	C102843646G	PAH	NM_000277.3(PAH):c.1199G>C:p.Arg400Thr	coding	Pathogenic
12	102843648	T	A	T102843648A	PAH	NM_000277.3(PAH):c.1197A>T:p.Val399=	coding	Pathogenic
12	102843661	G	C	G102843661C	PAH	NM_000277.3(PAH):c.1184C>G:p.Ala395Gly	coding	Pathogenic/Likely_pathogenic
12	102843662	C	G	C102843662G	PAH	NM_000277.3(PAH):c.1183G>C:p.Ala395Pro	coding	Pathogenic
12	102843671	A	T	A102843671T	PAH	NM_000277.3(PAH):c.1174T>A:p.Phe392Ile	coding	Pathogenic
12	102843676	T	C	T102843676C	PAH	NM_000277.3(PAH):c.1169A>G:p.Glu390Gly	coding	Pathogenic
12	102843683	C	T	C102843683T	PAH	NM_000277.3(PAH):c.1162G>A:p.Val388Met	coding	Pathogenic
12	102843684	G	C	G102843684C	PAH	NM_000277.3(PAH):c.1161C>G:p.Tyr387Ter	coding	Pathogenic
12	102843684	G	T	G102843684T	PAH	NM_000277.3(PAH):c.1161C>A:p.Tyr387Ter	coding	Pathogenic
12	102843688	T	C	T102843688C	PAH	NM_000277.3(PAH):c.1157A>G:p.Tyr386Cys	coding	Pathogenic/Likely_pathogenic
12	102843690	G	C	G102843690C	PAH	NM_000277.3(PAH):c.1155C>G:p.Leu385=	coding	Benign
12	102843698	G	A	G102843698A	PAH	NM_000277.3(PAH):c.1147C>T:p.Gln383Ter	coding	Pathogenic
12	102843706	G	A	G102843706A	PAH	NM_000277.3(PAH):c.1139C>T:p.Thr380Met	coding	Pathogenic
12	102843748	G	T	G102843748T	PAH	NM_000277.3(PAH):c.1097C>A:p.Pro366His	coding	Pathogenic/Likely_pathogenic
12	102843769	G	C	G102843769C	PAH	NM_000277.3(PAH):c.1076C>G:p.Ser359Ter	coding	Pathogenic
12	102843777	G	C	G102843777C	PAH	NM_000277.3(PAH):c.1068C>G:p.Tyr356Ter	coding	Pathogenic
12	102843777	G	T	G102843777T	PAH	NM_000277.3(PAH):c.1068C>A:p.Tyr356Ter	coding	Pathogenic
12	102843780	C	A	C102843780A	PAH	NM_000277.3(PAH):c.1066-1G>T	coding	Pathogenic
12	102843780	C	G	C102843780G	PAH	NM_000277.3(PAH):c.1066-1G>C	coding	Pathogenic
12	102843780	C	T	C102843780T	PAH	NM_000277.3(PAH):c.1066-1G>A	coding	Pathogenic
12	102843781	T	A	T102843781A	PAH	NM_000277.3(PAH):c.1066-2A>T	noncoding	Pathogenic
12	102843782	G	A	G102843782A	PAH	NM_000277.3(PAH):c.1066-3C>T	noncoding	Pathogenic/Likely_pathogenic
12	102843790	C	T	C102843790T	PAH	NM_000277.3(PAH):c.1066-11G>A	noncoding	Pathogenic
12	102844335	C	A	C102844335A	PAH	NM_000277.3(PAH):c.1065+1G>T	noncoding	Pathogenic
12	102844335	C	T	C102844335T	PAH	NM_000277.3(PAH):c.1065+1G>A	noncoding	Pathogenic
12	102844338	G	A	G102844338A	PAH	NM_000277.3(PAH):c.1063C>T:p.Gln355Ter	coding	Pathogenic
12	102844352	G	T	G102844352T	PAH	NM_000277.3(PAH):c.1049C>A:p.Ser350Tyr	coding	Pathogenic
12	102844355	G	A	G102844355A	PAH	NM_000277.3(PAH):c.1046C>T:p.Ser349Leu	coding	Pathogenic
12	102844356	A	G	A102844356G	PAH	NM_000277.3(PAH):c.1045T>C:p.Ser349Pro	coding	Pathogenic/Likely_pathogenic
12	102844359	G	C	G102844359C	PAH	NM_000277.3(PAH):c.1042C>G:p.Leu348Val	coding	Pathogenic
12	102844368	C	A	C102844368A	PAH	NM_000277.3(PAH):c.1033G>T:p.Ala345Ser	coding	Pathogenic/Likely_pathogenic
12	102844372	A	T	A102844372T	PAH	NM_000277.3(PAH):c.1029T>A:p.Tyr343Ter	coding	Pathogenic
12	102844373	T	C	T102844373C	PAH	NM_000277.3(PAH):c.1028A>G:p.Tyr343Cys	coding	Pathogenic/Likely_pathogenic
12	102844389	C	A	C102844389A	PAH	NM_000277.3(PAH):c.1012G>T:p.Asp338Tyr	coding	Pathogenic
12	102844404	G	A	G102844404A	PAH	NM_000277.3(PAH):c.997C>T:p.Leu333Phe	coding	Pathogenic
12	102844423	C	T	C102844423T	PAH	NM_000277.3(PAH):c.978G>A:p.Trp326Ter	coding	Pathogenic
12	102844424	C	T	C102844424T	PAH	NM_000277.3(PAH):c.977G>A:p.Trp326Ter	coding	Pathogenic
12	102844426	G	C	G102844426C	PAH	NM_000277.3(PAH):c.975C>G:p.Tyr325Ter	coding	Pathogenic
12	102844432	C	G	C102844432G	PAH	NM_000277.3(PAH):c.970-1G>C	coding	Pathogenic
12	102846852	C	A	C102846852A	PAH	NM_000277.3(PAH):c.969+43G>T	noncoding	Benign
12	102846890	C	T	C102846890T	PAH	NM_000277.3(PAH):c.969+5G>A	noncoding	Pathogenic
12	102846893	A	C	A102846893C	PAH	NM_000277.3(PAH):c.969+2T>G	noncoding	Pathogenic
12	102846894	C	T	C102846894T	PAH	NM_000277.3(PAH):c.969+1G>A	noncoding	Pathogenic
12	102846900	C	T	C102846900T	PAH	NM_000277.3(PAH):c.964G>A:p.Ala322Thr	coding	Pathogenic
12	102846901	G	A	G102846901A	PAH	NM_000277.3(PAH):c.963C>T:p.Leu321=	coding	Benign
12	102846904	C	G	C102846904G	PAH	NM_000277.3(PAH):c.960G>C:p.Lys320Asn	coding	Pathogenic
12	102846909	C	A	C102846909A	PAH	NM_000277.3(PAH):c.955G>T:p.Glu319Ter	coding	Pathogenic
12	102846923	G	T	G102846923T	PAH	NM_000277.3(PAH):c.941C>A:p.Pro314His	coding	Pathogenic/Likely_pathogenic
12	102846924	G	A	G102846924A	PAH	NM_000277.3(PAH):c.940C>T:p.Pro314Ser	coding	Pathogenic
12	102846924	G	T	G102846924T	PAH	NM_000277.3(PAH):c.940C>A:p.Pro314Thr	coding	Pathogenic/Likely_pathogenic
12	102846932	A	G	A102846932G	PAH	NM_000277.3(PAH):c.932T>C:p.Leu311Pro	coding	Pathogenic
12	102846935	G	A	G102846935A	PAH	NM_000277.3(PAH):c.929C>T:p.Ser310Phe	coding	Pathogenic/Likely_pathogenic
12	102846938	G	A	G102846938A	PAH	NM_000277.3(PAH):c.926C>T:p.Ala309Val	coding	Pathogenic
12	102846938	G	T	G102846938T	PAH	NM_000277.3(PAH):c.926C>A:p.Ala309Asp	coding	Pathogenic/Likely_pathogenic
12	102846948	T	C	T102846948C	PAH	NM_000277.3(PAH):c.916A>G:p.Ile306Val	coding	Pathogenic
12	102846953	T	C	T102846953C	PAH	NM_000277.3(PAH):c.913-2A>G	noncoding	Pathogenic
12	102851685	A	G	A102851685G	PAH	NM_000277.3(PAH):c.912+2T>C	noncoding	Pathogenic
12	102851686	C	T	C102851686T	PAH	NM_000277.3(PAH):c.912+1G>A	noncoding	Pathogenic
12	102851689	G	A	G102851689A	PAH	NM_000277.3(PAH):c.910C>T:p.Gln304Ter	coding	Pathogenic/Likely_pathogenic
12	102851697	T	G	T102851697G	PAH	NM_000277.3(PAH):c.902A>C:p.Gln301Pro	coding	Pathogenic
12	102851698	G	A	G102851698A	PAH	NM_000277.3(PAH):c.901C>T:p.Gln301Ter	coding	Pathogenic
12	102851698	G	T	G102851698T	PAH	NM_000277.3(PAH):c.901C>A:p.Gln301Lys	coding	Pathogenic
12	102851701	C	A	C102851701A	PAH	NM_000277.3(PAH):c.898G>T:p.Ala300Ser	coding	Pathogenic
12	102851703	A	C	A102851703C	PAH	NM_000277.3(PAH):c.896T>G:p.Phe299Cys	coding	Pathogenic
12	102851709	C	T	C102851709T	PAH	NM_000277.3(PAH):c.890G>A:p.Arg297His	coding	Pathogenic
12	102851715	G	C	G102851715C	PAH	NM_000277.3(PAH):c.884C>G:p.Ser295Ter	coding	Pathogenic
12	102851734	C	G	C102851734G	PAH	NM_000277.3(PAH):c.865G>C:p.Gly289Arg	coding	Pathogenic
12	102851734	C	T	C102851734T	PAH	NM_000277.3(PAH):c.865G>A:p.Gly289Arg	coding	Pathogenic
12	102851743	C	T	C102851743T	PAH	NM_000277.3(PAH):c.856G>A:p.Glu286Lys	coding	Pathogenic
12	102851751	A	T	A102851751T	PAH	NM_000277.3(PAH):c.848T>A:p.Ile283Asn	coding	Pathogenic
12	102851752	T	A	T102851752A	PAH	NM_000277.3(PAH):c.847A>T:p.Ile283Phe	coding	Pathogenic
12	102851755	C	T	C102851755T	PAH	NM_000277.3(PAH):c.844G>A:p.Asp282Asn	coding	Pathogenic/Likely_pathogenic
12	102851758	T	A	T102851758A	PAH	NM_000277.3(PAH):c.843-2A>T	noncoding	Pathogenic
12	102851761	A	G	A102851761G	PAH	NM_000277.3(PAH):c.843-5T>C	noncoding	Pathogenic
12	102852810	C	T	C102852810T	PAH	NM_000277.3(PAH):c.842+5G>A	noncoding	Pathogenic/Likely_pathogenic
12	102852813	A	T	A102852813T	PAH	NM_000277.3(PAH):c.842+2T>A	noncoding	Pathogenic
12	102852814	C	A	C102852814A	PAH	NM_000277.3(PAH):c.842+1G>T	noncoding	Pathogenic
12	102852814	C	T	C102852814T	PAH	NM_000277.3(PAH):c.842+1G>A	noncoding	Pathogenic
12	102852818	T	C	T102852818C	PAH	NM_000277.3(PAH):c.839A>G:p.Glu280Gly	coding	Pathogenic
12	102852819	C	T	C102852819T	PAH	NM_000277.3(PAH):c.838G>A:p.Glu280Lys	coding	Pathogenic
12	102852824	G	A	G102852824A	PAH	NM_000277.3(PAH):c.833C>T:p.Thr278Ile	coding	Pathogenic
12	102852824	G	T	G102852824T	PAH	NM_000277.3(PAH):c.833C>A:p.Thr278Asn	coding	Pathogenic/Likely_pathogenic
12	102852828	A	C	A102852828C	PAH	NM_000277.3(PAH):c.829T>G:p.Tyr277Asp	coding	Pathogenic
12	102852834	G	A	G102852834A	PAH	NM_000277.3(PAH):c.823C>T:p.Pro275Ser	coding	Pathogenic
12	102852843	C	A	C102852843A	PAH	NM_000277.3(PAH):c.814G>T:p.Gly272Ter	coding	Pathogenic
12	102852848	C	T	C102852848T	PAH	NM_000277.3(PAH):c.809G>A:p.Arg270Lys	coding	Pathogenic
12	102852852	T	G	T102852852G	PAH	NM_000277.3(PAH):c.805A>C:p.Ile269Leu	coding	Pathogenic
12	102852857	T	C	T102852857C	PAH	NM_000277.3(PAH):c.800A>G:p.Gln267Arg	coding	Pathogenic
12	102852858	G	A	G102852858A	PAH	NM_000277.3(PAH):c.799C>T:p.Gln267Ter	coding	Pathogenic
12	102852858	G	C	G102852858C	PAH	NM_000277.3(PAH):c.799C>G:p.Gln267Glu	coding	Pathogenic
12	102852862	G	T	G102852862T	PAH	NM_000277.3(PAH):c.795C>A:p.Cys265Ter	coding	Pathogenic
12	102852869	A	G	A102852869G	PAH	NM_000277.3(PAH):c.788T>C:p.Phe263Ser	coding	Pathogenic
12	102852875	C	G	C102852875G	PAH	NM_000277.3(PAH):c.782G>C:p.Arg261Pro	coding	Pathogenic
12	102852875	C	T	C102852875T	PAH	NM_000277.3(PAH):c.782G>A:p.Arg261Gln	coding	Pathogenic
12	102852876	G	A	G102852876A	PAH	NM_000277.3(PAH):c.781C>T:p.Arg261Ter	coding	Pathogenic
12	102852881	G	A	G102852881A	PAH	NM_000277.3(PAH):c.776C>T:p.Ala259Val	coding	Pathogenic/Likely_pathogenic
12	102852882	C	T	C102852882T	PAH	NM_000277.3(PAH):c.775G>A:p.Ala259Thr	coding	Pathogenic/Likely_pathogenic
12	102852887	C	A	C102852887A	PAH	NM_000277.3(PAH):c.770G>T:p.Gly257Val	coding	Pathogenic/Likely_pathogenic
12	102852893	A	G	A102852893G	PAH	NM_000277.3(PAH):c.764T>C:p.Leu255Ser	coding	Pathogenic/Likely_pathogenic
12	102852902	C	T	C102852902T	PAH	NM_000277.3(PAH):c.755G>A:p.Arg252Gln	coding	Pathogenic
12	102852903	G	A	G102852903A	PAH	NM_000277.3(PAH):c.754C>T:p.Arg252Trp	coding	Pathogenic
12	102852903	G	C	G102852903C	PAH	NM_000277.3(PAH):c.754C>G:p.Arg252Gly	coding	Pathogenic
12	102852912	G	A	G102852912A	PAH	NM_000277.3(PAH):c.745C>T:p.Leu249Phe	coding	Pathogenic
12	102852917	C	A	C102852917A	PAH	NM_000277.3(PAH):c.740G>T:p.Gly247Val	coding	Pathogenic/Likely_pathogenic
12	102852920	G	T	G102852920T	PAH	NM_000277.3(PAH):c.737C>A:p.Ala246Asp	coding	Pathogenic
12	102852922	C	T	C102852922T	PAH	NM_000277.3(PAH):c.735G>A:p.Val245=	coding	Benign
12	102852923	A	G	A102852923G	PAH	NM_000277.3(PAH):c.734T>C:p.Val245Ala	coding	Pathogenic
12	102852923	A	T	A102852923T	PAH	NM_000277.3(PAH):c.734T>A:p.Val245Glu	coding	Pathogenic
12	102852924	C	G	C102852924G	PAH	NM_000277.3(PAH):c.733G>C:p.Val245Leu	coding	Pathogenic/Likely_pathogenic
12	102852929	C	T	C102852929T	PAH	NM_000277.3(PAH):c.728G>A:p.Arg243Gln	coding	Pathogenic
12	102852930	G	A	G102852930A	PAH	NM_000277.3(PAH):c.727C>T:p.Arg243Ter	coding	Pathogenic
12	102852935	C	A	C102852935A	PAH	NM_000277.3(PAH):c.722G>T:p.Arg241Leu	coding	Pathogenic
12	102852935	C	T	C102852935T	PAH	NM_000277.3(PAH):c.722G>A:p.Arg241His	coding	Pathogenic
12	102852936	G	A	G102852936A	PAH	NM_000277.3(PAH):c.721C>T:p.Arg241Cys	coding	Pathogenic
12	102852951	C	T	C102852951T	PAH	NM_000277.3(PAH):c.707-1G>A	coding	Pathogenic
12	102852957	T	A	T102852957A	PAH	NM_000277.3(PAH):c.707-7A>T	noncoding	Benign
12	102855145	A	T	A102855145T	PAH	NM_000277.3(PAH):c.697T>A:p.Phe233Ile	coding	Pathogenic
12	102855146	C	T	C102855146T	PAH	NM_000277.3(PAH):c.696G>A:p.Gln232=	coding	Benign
12	102855148	G	A	G102855148A	PAH	NM_000277.3(PAH):c.694C>T:p.Gln232Ter	coding	Pathogenic
12	102855151	A	G	A102855151G	PAH	NM_000277.3(PAH):c.691T>C:p.Ser231Pro	coding	Pathogenic
12	102855169	G	T	G102855169T	PAH	NM_000277.3(PAH):c.673C>A:p.Pro225Thr	coding	Pathogenic
12	102855189	C	A	C102855189A	PAH	NM_000277.3(PAH):c.653G>T:p.Gly218Val	coding	Pathogenic
12	102855194	G	C	G102855194C	PAH	NM_000277.3(PAH):c.648C>G:p.Tyr216Ter	coding	Pathogenic
12	102855204	A	G	A102855204G	PAH	NM_000277.3(PAH):c.638T>C:p.Leu213Pro	coding	Pathogenic
12	102855211	G	T	G102855211T	PAH	NM_000277.3(PAH):c.631C>A:p.Pro211Thr	coding	Pathogenic/Likely_pathogenic
12	102855224	G	C	G102855224C	PAH	NM_000277.3(PAH):c.618C>G:p.Tyr206Ter	coding	Pathogenic
12	102855224	G	T	G102855224T	PAH	NM_000277.3(PAH):c.618C>A:p.Tyr206Ter	coding	Pathogenic
12	102855230	A	C	A102855230C	PAH	NM_000277.3(PAH):c.612T>G:p.Tyr204Ter	coding	Pathogenic
12	102855230	A	G	A102855230G	PAH	NM_000277.3(PAH):c.612T>C:p.Tyr204=	coding	Benign
12	102855231	T	C	T102855231C	PAH	NM_000277.3(PAH):c.611A>G:p.Tyr204Cys	coding	Pathogenic
12	102855252	A	T	A102855252T	PAH	NM_000277.3(PAH):c.590T>A:p.Leu197Ter	coding	Pathogenic
12	102855273	A	G	A102855273G	PAH	NM_000277.3(PAH):c.569T>C:p.Val190Ala	coding	Pathogenic
12	102855281	C	T	C102855281T	PAH	NM_000277.3(PAH):c.561G>A:p.Trp187Ter	coding	Pathogenic
12	102855295	C	A	C102855295A	PAH	NM_000277.3(PAH):c.547G>T:p.Glu183Ter	coding	Pathogenic
12	102855309	T	C	T102855309C	PAH	NM_000277.3(PAH):c.533A>G:p.Glu178Gly	coding	Pathogenic
12	102855313	C	G	C102855313G	PAH	NM_000277.3(PAH):c.529G>C:p.Val177Leu	coding	Pathogenic/Likely_pathogenic
12	102855313	C	T	C102855313T	PAH	NM_000277.3(PAH):c.529G>A:p.Val177Met	coding	Pathogenic
12	102855315	C	A	C102855315A	PAH	NM_000277.3(PAH):c.527G>T:p.Arg176Leu	coding	Pathogenic/Likely_pathogenic
12	102855315	C	T	C102855315T	PAH	NM_000277.3(PAH):c.527G>A:p.Arg176Gln	coding	Pathogenic
12	102855316	G	A	G102855316A	PAH	NM_000277.3(PAH):c.526C>T:p.Arg176Ter	coding	Pathogenic
12	102855321	A	G	A102855321G	PAH	NM_000277.3(PAH):c.521T>C:p.Ile174Thr	coding	Pathogenic
12	102855326	C	A	C102855326A	PAH	NM_000277.3(PAH):c.516G>T:p.Gln172His	coding	Pathogenic
12	102855328	G	A	G102855328A	PAH	NM_000277.3(PAH):c.514C>T:p.Gln172Ter	coding	Pathogenic
12	102855332	A	C	A102855332C	PAH	NM_000277.3(PAH):c.510T>G:p.His170Gln	coding	Pathogenic
12	102855332	A	T	A102855332T	PAH	NM_000277.3(PAH):c.510T>A:p.His170Gln	coding	Pathogenic
12	102855386	C	T	C102855386T	PAH	NM_000277.3(PAH):c.510-54G>A	noncoding	Benign
12	102866595	C	T	C102866595T	PAH	NM_000277.3(PAH):c.509+1G>A	noncoding	Pathogenic
12	102866597	G	C	G102866597C	PAH	NM_000277.3(PAH):c.508C>G:p.His170Asp	coding	Pathogenic
12	102866600	G	T	G102866600T	PAH	NM_000277.3(PAH):c.505C>A:p.Arg169Ser	coding	Pathogenic
12	102866601	G	T	G102866601T	PAH	NM_000277.3(PAH):c.504C>A:p.Tyr168Ter	coding	Pathogenic
12	102866607	G	C	G102866607C	PAH	NM_000277.3(PAH):c.498C>G:p.Tyr166Ter	coding	Pathogenic
12	102866607	G	T	G102866607T	PAH	NM_000277.3(PAH):c.498C>A:p.Tyr166Ter	coding	Pathogenic
12	102866632	C	T	C102866632T	PAH	NM_000277.3(PAH):c.473G>A:p.Arg158Gln	coding	Pathogenic
12	102866633	G	A	G102866633A	PAH	NM_000277.3(PAH):c.472C>T:p.Arg158Trp	coding	Pathogenic
12	102866641	C	T	C102866641T	PAH	NM_000277.3(PAH):c.464G>A:p.Arg155His	coding	Pathogenic
12	102866664	C	T	C102866664T	PAH	NM_000277.3(PAH):c.442-1G>A	coding	Pathogenic
12	102866668	G	C	G102866668C	PAH	NM_000277.3(PAH):c.442-5C>G	noncoding	Pathogenic
12	102877415	G	A	G102877415A	PAH	NM_000277.3(PAH):c.441+47C>T	noncoding	Benign
12	102877457	C	A	C102877457A	PAH	NM_000277.3(PAH):c.441+5G>T	noncoding	Pathogenic
12	102877459	C	G	C102877459G	PAH	NM_000277.3(PAH):c.441+3G>C	noncoding	Pathogenic
12	102877461	C	G	C102877461G	PAH	NM_000277.3(PAH):c.441+1G>C	noncoding	Pathogenic
12	102877461	C	T	C102877461T	PAH	NM_000277.3(PAH):c.441+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	102877475	T	C	T102877475C	PAH	NM_000277.3(PAH):c.428A>G:p.Asp143Gly	coding	Pathogenic
12	102877518	C	A	C102877518A	PAH	NM_000277.3(PAH):c.385G>T:p.Asp129Tyr	coding	Pathogenic/Likely_pathogenic
12	102877544	C	T	C102877544T	PAH	NM_000277.3(PAH):c.359G>A:p.Trp120Ter	coding	Pathogenic
12	102877551	C	T	C102877551T	PAH	NM_000277.3(PAH):c.353-1G>A	coding	Pathogenic
12	102877552	T	C	T102877552C	PAH	NM_000277.3(PAH):c.353-2A>G	noncoding	Pathogenic
12	102877572	G	A	G102877572A	PAH	NM_000277.3(PAH):c.353-22C>T	noncoding	Benign
12	102894756	G	A	G102894756A	PAH	NM_000277.3(PAH):c.331C>T:p.Arg111Ter	coding	Pathogenic
12	102894767	T	C	T102894767C	PAH	NM_000277.3(PAH):c.320A>G:p.His107Arg	coding	Pathogenic/Likely_pathogenic
12	102894776	G	T	G102894776T	PAH	NM_000277.3(PAH):c.311C>A:p.Ala104Asp	coding	Pathogenic
12	102894804	T	A	T102894804A	PAH	NM_000277.3(PAH):c.283A>T:p.Ile95Phe	coding	Pathogenic/Likely_pathogenic
12	102894826	G	T	G102894826T	PAH	NM_000277.3(PAH):c.261C>A:p.Ser87Arg	coding	Pathogenic/Likely_pathogenic
12	102894834	T	A	T102894834A	PAH	NM_000277.3(PAH):c.253A>T:p.Lys85Ter	coding	Pathogenic
12	102894837	C	A	C102894837A	PAH	NM_000277.3(PAH):c.250G>T:p.Asp84Tyr	coding	Pathogenic/Likely_pathogenic
12	102894846	T	G	T102894846G	PAH	NM_000277.3(PAH):c.241A>C:p.Thr81Pro	coding	Pathogenic/Likely_pathogenic
12	102894860	T	C	T102894860C	PAH	NM_000277.3(PAH):c.227A>G:p.Glu76Gly	coding	Pathogenic/Likely_pathogenic
12	102894883	T	A	T102894883A	PAH	NM_000277.3(PAH):c.204A>T:p.Arg68Ser	coding	Pathogenic/Likely_pathogenic
12	102894888	A	G	A102894888G	PAH	NM_000277.3(PAH):c.199T>C:p.Ser67Pro	coding	Pathogenic/Likely_pathogenic
12	102894891	C	A	C102894891A	PAH	NM_000277.3(PAH):c.196G>T:p.Glu66Ter	coding	Pathogenic
12	102894893	A	G	A102894893G	PAH	NM_000277.3(PAH):c.194T>C:p.Ile65Thr	coding	Pathogenic
12	102894894	T	C	T102894894C	PAH	NM_000277.3(PAH):c.193A>G:p.Ile65Val	coding	Pathogenic
12	102894918	C	A	C102894918A	PAH	NM_000277.3(PAH):c.169G>T:p.Glu57Ter	coding	Pathogenic
12	102894920	T	C	T102894920C	PAH	NM_000277.3(PAH):c.169-2A>G	noncoding	Pathogenic
12	102894931	A	C	A102894931C	PAH	NM_000277.3(PAH):c.169-13T>G	noncoding	Pathogenic
12	102912772	A	G	A102912772G	PAH	NM_000277.3(PAH):c.168+19T>C	noncoding	Benign
12	102912786	C	G	C102912786G	PAH	NM_000277.3(PAH):c.168+5G>C	noncoding	Pathogenic
12	102912789	A	G	A102912789G	PAH	NM_000277.3(PAH):c.168+2T>C	noncoding	Pathogenic
12	102912790	C	T	C102912790T	PAH	NM_000277.3(PAH):c.168+1G>A	noncoding	Pathogenic
12	102912794	A	C	A102912794C	PAH	NM_000277.3(PAH):c.165T>G:p.Phe55Leu	coding	Pathogenic/Likely_pathogenic
12	102912816	A	G	A102912816G	PAH	NM_000277.3(PAH):c.143T>C:p.Leu48Ser	coding	Pathogenic
12	102912823	C	T	C102912823T	PAH	NM_000277.3(PAH):c.136G>A:p.Gly46Ser	coding	Pathogenic
12	102912832	C	A	C102912832A	PAH	NM_000277.3(PAH):c.127G>T:p.Glu43Ter	coding	Pathogenic
12	102912838	G	A	G102912838A	PAH	NM_000277.3(PAH):c.121C>T:p.Leu41Phe	coding	Pathogenic
12	102912842	G	C	G102912842C	PAH	NM_000277.3(PAH):c.117C>G:p.Phe39Leu	coding	Pathogenic
12	102917009	G	A	G102917009A	PAH	NM_000277.3(PAH):c.60+62C>T	noncoding	Benign
12	102917066	C	A	C102917066A	PAH	NM_000277.3(PAH):c.60+5G>T	noncoding	Pathogenic
12	102917066	C	G	C102917066G	PAH	NM_000277.3(PAH):c.60+5G>C	noncoding	Pathogenic
12	102917073	G	A	G102917073A	PAH	NM_000277.3(PAH):c.58C>T:p.Gln20Ter	coding	Pathogenic
12	102917099	A	T	A102917099T	PAH	NM_000277.3(PAH):c.32T>A:p.Leu11Ter	coding	Pathogenic
12	102917128	C	T	C102917128T	PAH	NM_000277.3(PAH):c.3G>A:p.Met1Ile	coding	Pathogenic
12	102917129	A	C	A102917129C	PAH	NM_000277.3(PAH):c.2T>G:p.Met1Arg	coding	Pathogenic
12	102917130	T	A	T102917130A	PAH	NM_000277.3(PAH):c.1A>T:p.Met1Leu	coding	Pathogenic
12	102917130	T	C	T102917130C	PAH	NM_000277.3(PAH):c.1A>G:p.Met1Val	coding	Pathogenic
12	102917201	T	G	T102917201G	PAH	NM_000277.3(PAH):c.-71A>C	noncoding	Benign
12	102917211	G	A	G102917211A	PAH	NM_000277.3(PAH):c.-81C>T	noncoding	Benign
12	102958296	C	A	C102958296A	ASCL1	NM_004316.4(ASCL1):c.52C>A:p.Pro18Thr	coding	Pathogenic
12	102958367	A	G	A102958367G	ASCL1	NM_004316.4(ASCL1):c.123A>G:p.Ala41=	coding	Benign/Likely_benign
12	102958871	C	G	C102958871G	ASCL1	NM_004316.4(ASCL1):c.627C>G:p.Val209=	coding	Benign
12	103631608	T	C	T103631608C	STAB2	NM_017564.10(STAB2):c.498T>C:p.Cys166=	coding	Benign
12	103631642	G	A	G103631642A	STAB2	NM_017564.10(STAB2):c.532G>A:p.Asp178Asn	coding	Benign
12	103631668	G	A	G103631668A	STAB2	NM_017564.10(STAB2):c.558G>A:p.Ala186=	coding	Benign
12	103637245	A	C	A103637245C	STAB2	NM_017564.10(STAB2):c.709+9A>C	noncoding	Benign
12	103640132	G	A	G103640132A	STAB2	NM_017564.10(STAB2):c.916G>A:p.Glu306Lys	coding	Benign
12	103652577	A	G	A103652577G	STAB2	NM_017564.10(STAB2):c.1279A>G:p.Asn427Asp	coding	Benign
12	103654668	G	T	G103654668T	STAB2	NM_017564.10(STAB2):c.1521G>T:p.Lys507Asn	coding	Benign
12	103654676	C	G	C103654676G	STAB2	NM_017564.10(STAB2):c.1529C>G:p.Pro510Arg	coding	Benign
12	103662838	C	T	C103662838T	STAB2	NM_017564.10(STAB2):c.1870-8C>T	noncoding	Benign
12	103662857	G	A	G103662857A	STAB2	NM_017564.10(STAB2):c.1881G>A:p.Leu627=	coding	Benign
12	103668637	C	T	C103668637T	STAB2	NM_017564.10(STAB2):c.2086-6C>T	noncoding	Benign
12	103670719	C	T	C103670719T	STAB2	NM_017564.10(STAB2):c.2283C>T:p.Asn761=	coding	Benign
12	103674094	C	G	C103674094G	STAB2	NM_017564.10(STAB2):c.2552+7C>G	noncoding	Benign
12	103692804	A	G	A103692804G	STAB2	NM_017564.10(STAB2):c.3298-8A>G	noncoding	Benign
12	103695793	A	G	A103695793G	STAB2	NM_017564.10(STAB2):c.3531A>G:p.Pro1177=	coding	Benign
12	103699165	A	G	A103699165G	STAB2	NM_017564.10(STAB2):c.3652A>G:p.Met1218Val	coding	Benign
12	103706794	G	A	G103706794A	STAB2	NM_017564.10(STAB2):c.3999G>A:p.Thr1333=	coding	Benign
12	103713719	A	G	A103713719G	STAB2	NM_017564.10(STAB2):c.4488A>G:p.Arg1496=	coding	Benign
12	103725101	C	T	C103725101T	STAB2	NM_017564.10(STAB2):c.4803+7C>T	noncoding	Benign
12	103725104	G	C	G103725104C	STAB2	NM_017564.10(STAB2):c.4803+10G>C	noncoding	Benign
12	103733029	C	T	C103733029T	STAB2	NM_017564.10(STAB2):c.5307C>T:p.Ile1769=	coding	Benign
12	103733032	C	T	C103733032T	STAB2	NM_017564.10(STAB2):c.5310C>T:p.Thr1770=	coding	Benign
12	103745202	G	A	G103745202A	STAB2	NM_017564.10(STAB2):c.6061G>A:p.Asp2021Asn	coding	Benign
12	103750648	C	T	C103750648T	STAB2	NM_017564.10(STAB2):c.6508C>T:p.Pro2170Ser	coding	Benign
12	103750686	T	C	T103750686C	STAB2	NM_017564.10(STAB2):c.6546T>C:p.His2182=	coding	Benign
12	103759186	C	G	C103759186G	STAB2	NM_017564.10(STAB2):c.7161C>G:p.Phe2387Leu	coding	Benign
12	103932343	G	A	G103932343A	HSP90B1	NM_003299.3(HSP90B1):c.219G>A:p.Ser73=	coding	Benign
12	104321083	T	C	T104321083C	TXNRD1	NM_001093771.3(TXNRD1):c.990-8T>C	noncoding	Benign
12	104326379	A	G	A104326379G	TXNRD1	NM_001093771.3(TXNRD1):c.1341A>G:p.Thr447=	coding	Benign
12	104326400	C	T	C104326400T	TXNRD1	NM_001093771.3(TXNRD1):c.1362C>T:p.Thr454=	coding	Benign
12	105111180	C	G	C105111180G	WASHC4	NM_015275.3(WASHC4):c.117C>G:p.Thr39=	coding	Benign
12	105111272	T	G	T105111272G	WASHC4	NM_015275.3(WASHC4):c.201+8T>G	noncoding	Benign
12	105115677	G	T	G105115677T	WASHC4	NM_015275.3(WASHC4):c.384G>T:p.Met128Ile	coding	Benign
12	105115725	A	G	A105115725G	WASHC4	NM_015275.3(WASHC4):c.432A>G:p.Leu144=	coding	Benign/Likely_benign
12	105140979	A	G	A105140979G	WASHC4	NM_015275.3(WASHC4):c.1641A>G:p.Leu547=	coding	Benign
12	105141235	A	G	A105141235G	WASHC4	NM_015275.3(WASHC4):c.1776A>G:p.Glu592=	coding	Benign
12	105142460	A	T	A105142460T	WASHC4	NM_015275.3(WASHC4):c.1795A>T:p.Thr599Ser	coding	Benign
12	105149665	A	G	A105149665G	WASHC4	NM_015275.3(WASHC4):c.2565A>G:p.Gln855=	coding	Benign
12	105157278	A	G	A105157278G	WASHC4	NM_015275.3(WASHC4):c.2868A>G:p.Leu956=	coding	Benign
12	105160144	C	G	C105160144G	WASHC4	NM_015275.3(WASHC4):c.3056C>G:p.Pro1019Arg	coding	Pathogenic
12	105164241	C	G	C105164241G	WASHC4	NM_015275.3(WASHC4):c.3288C>G:p.Ala1096=	coding	Benign
12	105164259	C	A	C105164259A	WASHC4	NM_015275.3(WASHC4):c.3306C>A:p.Leu1102=	coding	Benign
12	105164260	T	C	T105164260C	WASHC4	NM_015275.3(WASHC4):c.3307T>C:p.Leu1103=	coding	Benign
12	106067337	C	T	C106067337T	NUAK1	NM_014840.2(NUAK1):c.1451G>A:p.Arg484His	coding	Benign
12	106067435	C	T	C106067435T	NUAK1	NM_014840.2(NUAK1):c.1353G>A:p.Pro451=	coding	Benign
12	106070838	G	A	G106070838A	NUAK1	NM_014840.2(NUAK1):c.768C>T:p.Phe256=	coding	Benign
12	106106530	A	G	A106106530G	NUAK1	NM_014840.2(NUAK1):c.241-5T>C	noncoding	Benign
12	106239095	A	C	A106239095C	CKAP4	NM_006825.4(CKAP4):c.1738T>G:p.Leu580Val	coding	Benign
12	106239501	G	A	G106239501A	CKAP4	NM_006825.4(CKAP4):c.1332C>T:p.His444=	coding	Benign
12	106240125	C	T	C106240125T	CKAP4	NM_006825.4(CKAP4):c.708G>A:p.Thr236=	coding	Benign
12	106357774	A	G	A106357774G	POLR3B	NM_018082.6(POLR3B):c.-106A>G	noncoding	Benign
12	106357785	C	T	C106357785T	POLR3B	NM_018082.6(POLR3B):c.-95C>T	noncoding	Benign
12	106357879	C	T	C106357879T	POLR3B	NM_018082.6(POLR3B):c.-1C>T	noncoding	Benign
12	106369678	C	T	C106369678T	POLR3B	NM_018082.6(POLR3B):c.399C>T:p.Ile133=	coding	Benign
12	106393080	A	C	A106393080C	POLR3B	NM_018082.6(POLR3B):c.773A>C:p.Glu258Ala	coding	Benign
12	106410834	A	G	A106410834G	POLR3B	NM_018082.6(POLR3B):c.975A>G:p.Glu325=	coding	Benign/Likely_benign
12	106427208	T	C	T106427208C	POLR3B	NM_018082.6(POLR3B):c.1113T>C:p.Leu371=	coding	Benign/Likely_benign
12	106430410	T	A	T106430410A	POLR3B	NM_018082.6(POLR3B):c.1401T>A:p.Gly467=	coding	Benign/Likely_benign
12	106432361	C	A	C106432361A	POLR3B	NM_018082.6(POLR3B):c.1508C>A:p.Thr503Lys	coding	Pathogenic
12	106432421	T	A	T106432421A	POLR3B	NM_018082.6(POLR3B):c.1568T>A:p.Val523Glu	coding	Pathogenic
12	106433710	T	A	T106433710A	POLR3B	NM_018082.6(POLR3B):c.1628-9T>A	noncoding	Benign
12	106433739	C	T	C106433739T	POLR3B	NM_018082.6(POLR3B):c.1648C>T:p.Arg550Ter	coding	Pathogenic
12	106433798	T	C	T106433798C	POLR3B	NM_018082.6(POLR3B):c.1707T>C:p.Asn569=	coding	Benign/Likely_benign
12	106437679	A	C	A106437679C	POLR3B	NM_018082.6(POLR3B):c.1857-2A>C	noncoding	Pathogenic
12	106444465	A	T	A106444465T	POLR3B	NM_018082.6(POLR3B):c.1958A>T:p.Asp653Val	coding	Benign/Likely_benign
12	106444562	T	C	T106444562C	POLR3B	NM_018082.6(POLR3B):c.2055T>C:p.Tyr685=	coding	Benign
12	106454487	C	T	C106454487T	POLR3B	NM_018082.6(POLR3B):c.2084-15C>T	noncoding	Benign
12	106454496	A	G	A106454496G	POLR3B	NM_018082.6(POLR3B):c.2084-6A>G	noncoding	Pathogenic
12	106454554	A	G	A106454554G	POLR3B	NM_018082.6(POLR3B):c.2136A>G:p.Leu712=	coding	Benign/Likely_benign
12	106454636	A	G	A106454636G	POLR3B	NM_018082.6(POLR3B):c.2218A>G:p.Thr740Ala	coding	Benign
12	106457147	G	A	G106457147A	POLR3B	NM_018082.6(POLR3B):c.2303G>A:p.Arg768His	coding	Pathogenic
12	106459369	G	A	G106459369A	POLR3B	NM_018082.6(POLR3B):c.2570+1G>A	coding	Pathogenic
12	106463593	A	T	A106463593T	POLR3B	NM_018082.6(POLR3B):c.2686A>T:p.Lys896Ter	coding	Pathogenic
12	106496115	C	A	C106496115A	POLR3B	NM_018082.6(POLR3B):c.2774C>A:p.Pro925Gln	coding	Pathogenic
12	106496115	C	T	C106496115T	POLR3B	NM_018082.6(POLR3B):c.2774C>T:p.Pro925Leu	coding	Pathogenic
12	106496118	A	G	A106496118G	POLR3B	NM_018082.6(POLR3B):c.2777A>G:p.Asp926Gly	coding	Pathogenic
12	106496119	C	G	C106496119G	POLR3B	NM_018082.6(POLR3B):c.2778C>G:p.Asp926Glu	coding	Pathogenic
12	106496751	G	T	G106496751T	POLR3B	NM_018082.6(POLR3B):c.2818-1G>T	noncoding	Pathogenic
12	106496811	C	T	C106496811T	POLR3B	NM_018082.6(POLR3B):c.2877C>T:p.His959=	coding	Benign
12	106509543	T	C	T106509543C	POLR3B	NM_018082.6(POLR3B):c.3396T>C:p.Asn1132=	coding	Benign
12	106509896	A	G	A106509896G	POLR3B	NM_018082.6(POLR3B):c.*347A>G	noncoding	Benign
12	106510114	G	A	G106510114A	POLR3B	NM_018082.6(POLR3B):c.*565G>A	noncoding	Benign
12	106510131	C	G	C106510131G	POLR3B	NM_018082.6(POLR3B):c.*582C>G	noncoding	Benign
12	106601331	C	G	C106601331G	RFX4	NM_213594.3(RFX4):c.44-7466C>G	coding	Benign
12	106601349	A	G	A106601349G	RFX4	NM_213594.3(RFX4):c.44-7448A>G	noncoding	Benign
12	106720770	G	A	G106720770A	RFX4	NM_213594.3(RFX4):c.1245G>A:p.Lys415=	coding	Benign
12	106761353	T	G	T106761353G	RFX4	NM_213594.3(RFX4):c.2092T>G:p.Ser698Ala	coding	Benign
12	106978473	G	C	G106978473C	MTERF2	NM_001033050.3(MTERF2):c.242C>G:p.Ala81Gly	coding	Benign
12	106978623	G	A	G106978623A	MTERF2	NM_001033050.3(MTERF2):c.92C>T:p.Ala31Val	coding	Benign
12	106978675	G	C	G106978675C	MTERF2	NM_001033050.3(MTERF2):c.40C>G:p.Leu14Val	coding	Benign
12	106997376	T	A	T106997376A	CRY1	NM_004075.5(CRY1):c.1503A>T:p.Ala501=	coding	Benign
12	106999695	C	T	C106999695T	CRY1	NM_004075.5(CRY1):c.993G>A:p.Ala331=	coding	Benign
12	108248022	G	A	G108248022A	WSCD2	NM_014653.4(WSCD2):c.1377G>A:p.Pro459=	coding	Benign
12	108292096	C	A	C108292096A	CMKLR1	NM_001142343.2(CMKLR1):c.867G>T:p.Met289Ile	coding	Benign
12	108518622	A	C	A108518622C	FICD	NM_007076.3(FICD):c.524A>C:p.Lys175Thr	coding	Benign
12	108519250	G	A	G108519250A	FICD	NM_007076.3(FICD):c.1152G>A:p.Ala384=	coding	Benign
12	108523553	G	A	G108523553A	SART3	NM_014706.4(SART3):c.2796C>T:p.Asn932=	coding	Benign
12	108526396	G	A	G108526396A	SART3	NM_014706.4(SART3):c.2073C>T:p.Asp691=	coding	Benign
12	108536790	C	T	C108536790T	SART3	NM_014706.4(SART3):c.1310-5G>A	noncoding	Benign
12	108538156	G	A	G108538156A	SART3	NM_014706.4(SART3):c.1110C>T:p.Arg370=	coding	Benign
12	108547877	G	A	G108547877A	SART3	NM_014706.4(SART3):c.544+10C>T	noncoding	Benign
12	108562641	T	G	T108562641G	ISCU	NM_014301.4(ISCU):c.-153T>G	coding	Benign
12	108562642	T	G	T108562642G	ISCU	NM_014301.4(ISCU):c.-152T>G	coding	Benign
12	108562647	C	T	C108562647T	ISCU	NM_014301.4(ISCU):c.-147C>T	coding	Benign
12	108562649	G	T	G108562649T	ISCU	NM_014301.4(ISCU):c.-145G>T	coding	Benign
12	108562657	C	T	C108562657T	ISCU	NM_014301.4(ISCU):c.-137C>T	coding	Benign
12	108562673	G	A	G108562673A	ISCU	NM_014301.4(ISCU):c.-121G>A	coding	Benign
12	108562674	C	A	C108562674A	ISCU	NM_014301.4(ISCU):c.-120C>A	coding	Benign
12	108564313	G	A	G108564313A	ISCU	NM_014301.4(ISCU):c.74G>A:p.Gly25Glu	coding	Pathogenic
12	108564663	T	C	T108564663C	ISCU	NM_014301.4(ISCU):c.153+271T>C	noncoding	Benign
12	108565316	T	C	T108565316C	ISCU	NM_014301.4(ISCU):c.154-5T>C	noncoding	Benign
12	108567002	A	G	A108567002G	ISCU	NM_014301.4(ISCU):c.265-188A>G	noncoding	Benign
12	108567452	A	G	A108567452G	ISCU	NM_014301.4(ISCU):c.343+184A>G	noncoding	Benign
12	108567650	G	C	G108567650C	ISCU	NM_014301.4(ISCU):c.343+382G>C	noncoding	Pathogenic
12	108568592	G	A	G108568592A	ISCU	NM_014301.4(ISCU):c.344-239G>A	noncoding	Benign
12	108568622	C	G	C108568622G	ISCU	NM_014301.4(ISCU):c.344-209C>G	noncoding	Benign
12	108568930	G	A	G108568930A	ISCU	NM_014301.4(ISCU):c.*14G>A	noncoding	Benign
12	108591873	G	A	G108591873A	TMEM119	NM_181724.3(TMEM119):c.511C>T:p.Gln171Ter	coding	Benign
12	108591931	A	G	A108591931G	TMEM119	NM_181724.3(TMEM119):c.453T>C:p.Ser151=	coding	Benign
12	108592241	G	A	G108592241A	TMEM119	NM_181724.3(TMEM119):c.143C>T:p.Ser48Leu	coding	Benign
12	108623591	C	T	C108623591T	SELPLG	NM_003006.4(SELPLG):c.717G>A:p.Thr239=	coding	Benign
12	108623838	G	A	G108623838A	SELPLG	NM_003006.4(SELPLG):c.470C>T:p.Thr157Met	coding	Benign
12	108788995	G	C	G108788995C	SSH1	NM_018984.4(SSH1):c.2143C>G:p.Leu715Val	coding	Benign
12	108805056	G	A	G108805056A	SSH1	NM_018984.4(SSH1):c.954C>T:p.Leu318=	coding	Benign
12	108817153	G	A	G108817153A	SSH1	NM_018984.4(SSH1):c.286C>T:p.Arg96Cys	coding	Benign
12	108823325	G	A	G108823325A	SSH1	NM_018984.4(SSH1):c.147C>T:p.Ala49=	coding	Benign
12	108898706	C	T	C108898706T	DAO	NM_001917.5(DAO):c.723C>T:p.Ile241=	coding	Benign
12	109067525	C	A	C109067525A	USP30	NM_032663.5(USP30):c.378C>A:p.Ala126=	coding	Benign
12	109098590	C	T	C109098590T	UNG	NM_080911.3(UNG):c.291C>T:p.Ser97=	coding	Benign
12	109101994	G	A	G109101994A	UNG	NM_080911.3(UNG):c.528G>A:p.Pro176=	coding	Benign
12	109103495	C	T	C109103495T	UNG	NM_080911.3(UNG):c.685C>T:p.Arg229Ter	coding	Pathogenic
12	109103562	T	C	T109103562C	UNG	NM_080911.3(UNG):c.752T>C:p.Phe251Ser	coding	Pathogenic
12	109103569	C	G	C109103569G	UNG	NM_080911.3(UNG):c.759C>G:p.Leu253=	coding	Benign
12	109110982	T	A	T109110982A	UNG	NM_080911.3(UNG):c.*1013T>A	noncoding	Benign
12	109139424	C	T	C109139424T	ACACB	NM_001093.4(ACACB):c.19C>T:p.Leu7=	coding	Benign
12	109171908	C	T	C109171908T	ACACB	NM_001093.4(ACACB):c.1029C>T:p.Pro343=	coding	Benign
12	109179083	G	A	G109179083A	ACACB	NM_001093.4(ACACB):c.1438-5G>A	noncoding	Benign
12	109179243	T	G	T109179243G	ACACB	NM_001093.4(ACACB):c.1593T>G:p.Val531=	coding	Benign
12	109199429	G	A	G109199429A	ACACB	NM_001093.4(ACACB):c.2655G>A:p.Thr885=	coding	Benign
12	109199429	G	T	G109199429T	ACACB	NM_001093.4(ACACB):c.2655G>T:p.Thr885=	coding	Benign
12	109222889	C	G	C109222889G	ACACB	NM_001093.4(ACACB):c.3769C>G:p.Gln1257Glu	coding	Benign
12	109234033	C	T	C109234033T	ACACB	NM_001093.4(ACACB):c.4335C>T:p.Phe1445=	coding	Benign
12	109235643	A	T	A109235643T	ACACB	NM_001093.4(ACACB):c.4442A>T:p.Asp1481Val	coding	Benign
12	109235655	C	T	C109235655T	ACACB	NM_001093.4(ACACB):c.4446+8C>T	noncoding	Benign
12	109237251	C	T	C109237251T	ACACB	NM_001093.4(ACACB):c.4533C>T:p.Thr1511=	coding	Benign
12	109242471	C	G	C109242471G	ACACB	NM_001093.4(ACACB):c.5057C>G:p.Pro1686Arg	coding	Benign
12	109246238	T	C	T109246238C	ACACB	NM_001093.4(ACACB):c.5361T>C:p.Asp1787=	coding	Benign
12	109246452	C	T	C109246452T	ACACB	NM_001093.4(ACACB):c.5571+4C>T	noncoding	Benign
12	109252135	A	G	A109252135G	ACACB	NM_001093.4(ACACB):c.5880A>G:p.Thr1960=	coding	Benign
12	109259023	C	T	C109259023T	ACACB	NM_001093.4(ACACB):c.6411C>T:p.Thr2137=	coding	Benign
12	109264335	C	T	C109264335T	ACACB	NM_001093.4(ACACB):c.6891C>T:p.Phe2297=	coding	Benign
12	109264361	G	A	G109264361A	ACACB	NM_001093.4(ACACB):c.6917G>A:p.Arg2306Gln	coding	Benign
12	109264395	C	T	C109264395T	ACACB	NM_001093.4(ACACB):c.6942+9C>T	noncoding	Benign
12	109265102	G	A	G109265102A	ACACB	NM_001093.4(ACACB):c.6943-8G>A	noncoding	Benign
12	109265256	C	T	C109265256T	ACACB	NM_001093.4(ACACB):c.7089C>T:p.Phe2363=	coding	Benign
12	109265287	C	T	C109265287T	ACACB	NM_001093.4(ACACB):c.7113+7C>T	noncoding	Benign
12	109265491	C	T	C109265491T	ACACB	NM_001093.4(ACACB):c.7216C>T:p.Leu2406=	coding	Benign
12	109401121	G	T	G109401121T	MYO1H	NM_001101421.3(MYO1H):c.551G>T:p.Ser184Ile	coding	Benign
12	109404049	C	G	C109404049G	MYO1H	NM_001101421.3(MYO1H):c.770C>G:p.Ser257Cys	coding	Benign
12	109407855	T	A	T109407855A	MYO1H	NM_001101421.3(MYO1H):c.1049T>A:p.Val350Asp	coding	Benign
12	109439701	C	T	C109439701T	MYO1H	NM_001101421.3(MYO1H):c.2317C>T:p.Arg773Trp	coding	Benign
12	109444461	G	A	G109444461A	MYO1H	NM_001101421.3(MYO1H):c.2877G>A:p.Val959=	coding	Benign
12	109483612	G	T	G109483612T	UBE3B	NM_130466.4(UBE3B):c.61G>T:p.Glu21Ter	coding	Pathogenic
12	109483918	A	C	A109483918C	UBE3B	NM_130466.4(UBE3B):c.219A>C:p.Ala73=	coding	Benign
12	109486479	T	G	T109486479G	UBE3B	NM_130466.4(UBE3B):c.351T>G:p.Tyr117Ter	coding	Pathogenic
12	109486580	C	A	C109486580A	UBE3B	NM_130466.4(UBE3B):c.447+5C>A	noncoding	Benign
12	109489917	A	G	A109489917G	UBE3B	NM_130466.4(UBE3B):c.545-2A>G	noncoding	Pathogenic
12	109489930	C	T	C109489930T	UBE3B	NM_130466.4(UBE3B):c.556C>T:p.Arg186Ter	coding	Pathogenic
12	109490001	G	C	G109490001C	UBE3B	NM_130466.4(UBE3B):c.627G>C:p.Leu209=	coding	Benign
12	109499632	G	A	G109499632A	UBE3B	NM_130466.4(UBE3B):c.941-1G>A	noncoding	Pathogenic
12	109501437	G	C	G109501437C	UBE3B	NM_130466.4(UBE3B):c.1185G>C:p.Arg395=	coding	Benign
12	109501543	C	T	C109501543T	UBE3B	NM_130466.4(UBE3B):c.1282+9C>T	noncoding	Benign
12	109509716	T	C	T109509716C	UBE3B	NM_130466.4(UBE3B):c.1741+2T>C	noncoding	Pathogenic
12	109510408	C	T	C109510408T	UBE3B	NM_130466.4(UBE3B):c.1806C>T:p.Tyr602=	coding	Benign
12	109511304	G	A	G109511304A	UBE3B	NM_130466.4(UBE3B):c.1956+1G>A	coding	Pathogenic
12	109521251	A	C	A109521251C	UBE3B	NM_130466.4(UBE3B):c.2180A>C:p.Gln727Pro	coding	Pathogenic
12	109524043	C	T	C109524043T	UBE3B	NM_130466.4(UBE3B):c.2430C>T:p.Ser810=	coding	Benign
12	109524473	G	A	G109524473A	UBE3B	NM_130466.4(UBE3B):c.2538G>A:p.Thr846=	coding	Benign
12	109524504	G	A	G109524504A	UBE3B	NM_130466.4(UBE3B):c.2568+1G>A	coding	Pathogenic
12	109530040	C	T	C109530040T	UBE3B	NM_130466.4(UBE3B):c.2778C>T:p.Gly926=	coding	Benign
12	109533465	G	T	G109533465T	UBE3B	NM_130466.4(UBE3B):c.2923-1G>T	noncoding	Pathogenic
12	109533533	G	C	G109533533C	UBE3B	NM_130466.4(UBE3B):c.2990G>C:p.Arg997Pro	coding	Pathogenic/Likely_pathogenic
12	109534731	C	T	C109534731T	UBE3B	NM_130466.4(UBE3B):c.3156C>T:p.Arg1052=	coding	Benign
12	109553850	G	T	G109553850T	MMAB	NM_052845.4(MMAB):c.*3178C>A	noncoding	Benign
12	109553880	C	T	C109553880T	MMAB	NM_052845.4(MMAB):c.*3148G>A	noncoding	Benign
12	109554193	A	G	A109554193G	MMAB	NM_052845.4(MMAB):c.*2835T>C	noncoding	Benign
12	109554327	C	G	C109554327G	MMAB	NM_052845.4(MMAB):c.*2701G>C	noncoding	Benign
12	109554344	C	G	C109554344G	MMAB	NM_052845.4(MMAB):c.*2684G>C	noncoding	Benign
12	109554400	G	A	G109554400A	MMAB	NM_052845.4(MMAB):c.*2628C>T	noncoding	Benign
12	109555076	A	G	A109555076G	MMAB	NM_052845.4(MMAB):c.*1952T>C	noncoding	Benign
12	109555218	C	T	C109555218T	MMAB	NM_052845.4(MMAB):c.*1810G>A	noncoding	Benign
12	109555299	T	G	T109555299G	MMAB	NM_052845.4(MMAB):c.*1729A>C	noncoding	Benign
12	109555493	C	T	C109555493T	MMAB	NM_052845.4(MMAB):c.*1535G>A	noncoding	Benign
12	109555561	G	A	G109555561A	MMAB	NM_052845.4(MMAB):c.*1467C>T	noncoding	Benign
12	109555798	C	A	C109555798A	MMAB	NM_052845.4(MMAB):c.*1230G>T	noncoding	Benign
12	109556023	T	C	T109556023C	MMAB	NM_052845.4(MMAB):c.*1005A>G	noncoding	Benign
12	109556137	G	T	G109556137T	MMAB	NM_052845.4(MMAB):c.*891C>A	noncoding	Benign
12	109556171	C	G	C109556171G	MMAB	NM_052845.4(MMAB):c.*857G>C	noncoding	Benign
12	109556307	A	C	A109556307C	MMAB	NM_052845.4(MMAB):c.*721T>G	noncoding	Benign
12	109556372	G	T	G109556372T	MMAB	NM_052845.4(MMAB):c.*656C>A	noncoding	Benign
12	109556403	C	G	C109556403G	MMAB	NM_052845.4(MMAB):c.*625G>C	noncoding	Benign
12	109556464	C	G	C109556464G	MMAB	NM_052845.4(MMAB):c.*564G>C	noncoding	Benign
12	109556648	T	A	T109556648A	MMAB	NM_052845.4(MMAB):c.*380A>T	noncoding	Benign
12	109556650	A	T	A109556650T	MMAB	NM_052845.4(MMAB):c.*378T>A	noncoding	Benign
12	109556652	A	T	A109556652T	MMAB	NM_052845.4(MMAB):c.*376T>A	noncoding	Benign
12	109556654	A	T	A109556654T	MMAB	NM_052845.4(MMAB):c.*374T>A	noncoding	Benign
12	109556836	A	G	A109556836G	MMAB	NM_052845.4(MMAB):c.*192T>C	noncoding	Benign
12	109557065	A	T	A109557065T	MMAB	NM_052845.4(MMAB):c.716T>A:p.Met239Lys	coding	Benign
12	109557081	G	A	G109557081A	MMAB	NM_052845.4(MMAB):c.700C>T:p.Gln234Ter	coding	Pathogenic
12	109557292	A	G	A109557292G	MMAB	NM_052845.4(MMAB):c.645-156T>C	noncoding	Benign
12	109557383	C	T	C109557383T	MMAB	NM_052845.4(MMAB):c.645-247G>A	noncoding	Benign
12	109558884	G	A	G109558884A	MMAB	NM_052845.4(MMAB):c.644+212C>T	noncoding	Benign
12	109559116	G	A	G109559116A	MMAB	NM_052845.4(MMAB):c.624C>T:p.Asn208=	coding	Benign/Likely_benign
12	109559157	T	G	T109559157G	MMAB	NM_052845.4(MMAB):c.585-2A>C	noncoding	Pathogenic
12	109560786	T	C	T109560786C	MMAB	NM_052845.4(MMAB):c.584+254A>G	noncoding	Benign
12	109561053	G	A	G109561053A	MMAB	NM_052845.4(MMAB):c.571C>T:p.Arg191Trp	coding	Pathogenic
12	109561056	G	A	G109561056A	MMAB	NM_052845.4(MMAB):c.568C>T:p.Arg190Cys	coding	Pathogenic
12	109561056	G	C	G109561056C	MMAB	NM_052845.4(MMAB):c.568C>G:p.Arg190Gly	coding	Pathogenic
12	109561061	A	C	A109561061C	MMAB	NM_052845.4(MMAB):c.563T>G:p.Val188Gly	coding	Pathogenic
12	109561068	G	A	G109561068A	MMAB	NM_052845.4(MMAB):c.556C>T:p.Arg186Trp	coding	Pathogenic
12	109561263	G	A	G109561263A	MMAB	NM_052845.4(MMAB):c.519+157C>T	coding	Benign
12	109561471	C	T	C109561471T	MMAB	NM_052845.4(MMAB):c.468G>A:p.Trp156Ter	coding	Pathogenic
12	109561485	C	A	C109561485A	MMAB	NM_052845.4(MMAB):c.454G>T:p.Glu152Ter	coding	Pathogenic/Likely_pathogenic
12	109564972	C	T	C109564972T	MMAB	NM_052845.4(MMAB):c.348+147G>A	noncoding	Benign
12	109565014	A	G	A109565014G	MMAB	NM_052845.4(MMAB):c.348+105T>C	noncoding	Benign
12	109565177	C	T	C109565177T	MMAB	NM_052845.4(MMAB):c.291-1G>A	coding	Pathogenic
12	109568770	C	T	C109568770T	MMAB	NM_052845.4(MMAB):c.290G>A:p.Gly97Glu	coding	Pathogenic
12	109568772	A	G	A109568772G	MVK;MMAB	NM_052845.4(MMAB):c.288T>C:p.Ile96=	coding	Benign/Likely_benign
12	109568773	A	G	A109568773G	MMAB	NM_052845.4(MMAB):c.287T>C:p.Ile96Thr	coding	Pathogenic
12	109568864	C	A	C109568864A	MMAB	NM_052845.4(MMAB):c.197-1G>T	coding	Pathogenic
12	109571660	G	A	G109571660A	MVK;MMAB	NM_052845.4(MMAB):c.185C>T:p.Thr62Met	coding	Benign/Likely_benign
12	109571733	A	G	A109571733G	MMAB	NM_052845.4(MMAB):c.135-23T>C	noncoding	Benign/Likely_benign
12	109573061	A	G	A109573061G	MMAB	NM_052845.4(MMAB):c.134+286T>C	noncoding	Benign
12	109573424	G	T	G109573424T	MVK;MMAB	NM_052845.4(MMAB):c.57C>A:p.Arg19=	coding	Benign
12	109573425	C	T	C109573425T	MVK;MMAB	NM_052845.4(MMAB):c.56G>A:p.Arg19His	coding	Benign
12	109573479	A	G	A109573479G	MMAB	NM_052845.4(MMAB):c.2T>C:p.Met1Thr	coding	Pathogenic
12	109573660	G	A	G109573660A	MVK;MMAB	NM_052845.3(MMAB):c.-180C>T	noncoding	Benign
12	109573710	A	G	A109573710G	MVK;MMAB	NM_000431.3(MVK):c.-178A>G	noncoding	Benign/Likely_benign
12	109573884	G	A	G109573884A	MVK	NM_000431.4(MVK):c.-15+11G>A	noncoding	Benign/Likely_benign
12	109574880	C	A	C109574880A	MVK	NM_000431.4(MVK):c.58C>A:p.His20Asn	coding	Pathogenic
12	109574881	A	C	A109574881C	MVK	NM_000431.4(MVK):c.59A>C:p.His20Pro	coding	Pathogenic
12	109574961	A	G	A109574961G	MVK	NM_000431.4(MVK):c.78+61A>G	noncoding	Benign
12	109575834	T	G	T109575834G	MVK	NM_000431.4(MVK):c.79-164T>G	noncoding	Benign
12	109576041	T	C	T109576041C	MVK	NM_000431.4(MVK):c.122T>C:p.Leu41Pro	coding	Pathogenic
12	109576074	G	A	G109576074A	MVK;MMAB	NM_000431.4(MVK):c.155G>A:p.Ser52Asn	coding	Benign/Likely_benign
12	109579921	T	C	T109579921C	MVK	NM_000431.4(MVK):c.346T>C:p.Tyr116His	coding	Pathogenic/Likely_pathogenic
12	109579954	C	T	C109579954T	MVK	NM_000431.4(MVK):c.371+8C>T	noncoding	Benign
12	109581093	C	T	C109581093T	MVK	NM_000431.4(MVK):c.372-302C>T	noncoding	Benign
12	109581403	C	T	C109581403T	MVK	NM_000431.4(MVK):c.380C>T:p.Pro127Leu	coding	Pathogenic
12	109581404	G	A	G109581404A	MVK	NM_000431.4(MVK):c.381G>A:p.Pro127=	coding	Benign/Likely_benign
12	109581428	G	A	G109581428A	MVK	NM_000431.4(MVK):c.405G>A:p.Ser135=	coding	Benign
12	109581465	G	A	G109581465A	MVK	NM_000431.4(MVK):c.442G>A:p.Ala148Thr	coding	Pathogenic
12	109581533	C	T	C109581533T	MVK	NM_000431.4(MVK):c.510C>T:p.Asp170=	coding	Benign
12	109586039	T	A	T109586039A	MVK	NM_000431.4(MVK):c.545T>A:p.Leu182Ter	coding	Pathogenic
12	109586058	G	A	G109586058A	MVK	NM_000431.4(MVK):c.564G>A:p.Trp188Ter	coding	Pathogenic
12	109586098	G	A	G109586098A	MVK	NM_000431.4(MVK):c.604G>A:p.Gly202Arg	coding	Pathogenic
12	109586102	T	C	T109586102C	MVK	NM_000431.4(MVK):c.608T>C:p.Val203Ala	coding	Pathogenic/Likely_pathogenic
12	109586124	G	A	G109586124A	MVK	NM_000431.4(MVK):c.630G>A:p.Trp210Ter	coding	Pathogenic
12	109586736	A	G	A109586736G	MVK	NM_000431.4(MVK):c.632-18A>G	noncoding	Benign
12	109586765	C	T	C109586765T	MVK	NM_000431.4(MVK):c.643C>T:p.Arg215Ter	coding	Pathogenic
12	109590802	A	T	A109590802T	MVK	NM_000431.4(MVK):c.709A>T:p.Thr237Ser	coding	Pathogenic
12	109590857	T	C	T109590857C	MVK	NM_000431.4(MVK):c.764T>C:p.Leu255Pro	coding	Pathogenic
12	109591203	C	T	C109591203T	MVK	NM_000431.4(MVK):c.769-38C>T	noncoding	Benign
12	109591234	T	G	T109591234G	MVK	NM_000431.4(MVK):c.769-7T>G	noncoding	Benign/Likely_benign
12	109591252	C	A	C109591252A	MVK	NM_000431.4(MVK):c.780C>A:p.Ile260=	coding	Benign
12	109591261	C	G	C109591261G	MVK	NM_000431.4(MVK):c.789C>G:p.Pro263=	coding	Benign/Likely_benign
12	109591275	T	C	T109591275C	MVK	NM_000431.4(MVK):c.803T>C:p.Ile268Thr	coding	Pathogenic
12	109591302	G	A	G109591302A	MVK	NM_000431.4(MVK):c.830G>A:p.Arg277His	coding	Pathogenic
12	109591303	C	T	C109591303T	MVK	NM_000431.4(MVK):c.831C>T:p.Arg277=	coding	Benign
12	109591381	G	A	G109591381A	MVK	NM_000431.4(MVK):c.885+24G>A	noncoding	Benign
12	109595044	A	C	A109595044C	MVK	NM_000431.4(MVK):c.902A>C:p.Asn301Thr	coding	Pathogenic
12	109595070	G	A	G109595070A	MVK	NM_000431.4(MVK):c.928G>A:p.Val310Met	coding	Pathogenic
12	109595142	G	A	G109595142A	MVK	NM_000431.4(MVK):c.1000G>A:p.Ala334Thr	coding	Pathogenic
12	109595182	G	A	G109595182A	MVK	NM_000431.4(MVK):c.1039+1G>A	coding	Pathogenic
12	109595183	T	C	T109595183C	MVK	NM_000431.4(MVK):c.1039+2T>C	noncoding	Pathogenic
12	109595465	G	C	G109595465C	MVK	NM_000431.4(MVK):c.1039+284G>C	noncoding	Benign
12	109596480	T	C	T109596480C	MVK	NM_000431.4(MVK):c.1094T>C:p.Phe365Ser	coding	Pathogenic
12	109596542	G	A	G109596542A	MVK	NM_000431.4(MVK):c.1156G>A:p.Asp386Asn	coding	Benign/Likely_benign
12	109596548	C	T	C109596548T	MVK	NM_000431.4(MVK):c.1162C>T:p.Arg388Ter	coding	Pathogenic
12	109596989	C	T	C109596989T	MVK	NM_000431.4(MVK):c.*412C>T	noncoding	Benign
12	109597237	G	A	G109597237A	MVK	NM_000431.4(MVK):c.*660G>A	noncoding	Benign
12	109768367	G	A	G109768367A	FAM222A	NM_032829.3(FAM222A):c.438G>A:p.Ala146=	coding	Benign
12	109768805	G	A	G109768805A	FAM222A	NM_032829.3(FAM222A):c.876G>A:p.Pro292=	coding	Benign
12	109769066	G	A	G109769066A	FAM222A	NM_032829.3(FAM222A):c.1137G>A:p.Glu379=	coding	Benign
12	109769273	A	G	A109769273G	FAM222A	NM_032829.3(FAM222A):c.1344A>G:p.Leu448=	coding	Benign
12	109783135	A	G	A109783135G	TRPV4	NM_021625.4(TRPV4):c.*486T>C	noncoding	Benign
12	109783198	C	T	C109783198T	TRPV4	NM_021625.4(TRPV4):c.*423G>A	noncoding	Benign
12	109783243	C	G	C109783243G	TRPV4	NM_021625.4(TRPV4):c.*378G>C	noncoding	Benign
12	109783256	G	A	G109783256A	TRPV4	NM_021625.4(TRPV4):c.*365C>T	noncoding	Benign
12	109783391	C	T	C109783391T	TRPV4	NM_021625.4(TRPV4):c.*230G>A	noncoding	Benign
12	109783431	G	A	G109783431A	TRPV4	NM_021625.5(TRPV4):c.*190C>T	noncoding	Benign
12	109783719	C	T	C109783719T	TRPV4	NM_021625.4(TRPV4):c.2518G>A:p.Glu840Lys	coding	Benign/Likely_benign
12	109783720	G	A	G109783720A	TRPV4	NM_021625.4(TRPV4):c.2517C>T:p.Asp839=	coding	Benign/Likely_benign
12	109783739	T	C	T109783739C	TRPV4	NM_021625.4(TRPV4):c.2498A>G:p.Asn833Ser	coding	Benign/Likely_benign
12	109783765	C	T	C109783765T	TRPV4	NM_021625.4(TRPV4):c.2472G>A:p.Ser824=	coding	Benign/Likely_benign
12	109783787	A	C	A109783787C	TRPV4	NM_021625.4(TRPV4):c.2459-9T>G	noncoding	Benign
12	109783826	G	C	G109783826C	TRPV4	NM_021625.4(TRPV4):c.2459-48C>G	noncoding	Benign
12	109784341	C	G	C109784341G	TRPV4	NM_021625.4(TRPV4):c.2433G>C:p.Ser811=	coding	Benign
12	109784378	G	A	G109784378A	TRPV4	NM_021625.4(TRPV4):c.2396C>T:p.Pro799Leu	coding	Pathogenic
12	109784378	G	C	G109784378C	TRPV4	NM_021625.4(TRPV4):c.2396C>G:p.Pro799Arg	coding	Pathogenic
12	109784379	G	A	G109784379A	TRPV4	NM_021625.4(TRPV4):c.2395C>T:p.Pro799Ser	coding	Pathogenic
12	109784379	G	C	G109784379C	TRPV4	NM_021625.4(TRPV4):c.2395C>G:p.Pro799Ala	coding	Pathogenic
12	109784385	C	T	C109784385T	TRPV4	NM_021625.4(TRPV4):c.2389G>A:p.Glu797Lys	coding	Pathogenic
12	109784386	G	A	G109784386A	TRPV4	NM_021625.4(TRPV4):c.2388C>T:p.Asn796=	coding	Benign/Likely_benign
12	109786716	C	T	C109786716T	TRPV4	NM_021625.4(TRPV4):c.2330G>A:p.Cys777Tyr	coding	Pathogenic
12	109786739	G	A	G109786739A	TRPV4	NM_021625.5(TRPV4):c.2307C>T:p.Asp769=	coding	Benign
12	109786757	G	A	G109786757A	TRPV4	NM_021625.4(TRPV4):c.2289C>T:p.Thr763=	coding	Benign/Likely_benign
12	109786798	C	T	C109786798T	TRPV4	NM_021625.4(TRPV4):c.2248G>A:p.Val750Ile	coding	Benign/Likely_benign
12	109786827	G	A	G109786827A	TRPV4	NM_021625.4(TRPV4):c.2219C>T:p.Thr740Ile	coding	Pathogenic
12	109787111	C	T	C109787111T	TRPV4	NM_021625.4(TRPV4):c.2209-274G>A	noncoding	Benign
12	109787117	A	C	A109787117C	TRPV4	NM_021625.4(TRPV4):c.2209-280T>G	noncoding	Benign
12	109788118	C	G	C109788118G	TRPV4	NM_021625.4(TRPV4):c.2208+282G>C	noncoding	Benign
12	109788404	A	C	A109788404C	TRPV4	NM_021625.4(TRPV4):c.2204T>G:p.Leu735Arg	coding	Pathogenic
12	109788462	C	A	C109788462A	TRPV4	NM_021625.4(TRPV4):c.2146G>T:p.Ala716Ser	coding	Pathogenic
12	109788483	G	T	G109788483T	TRPV4	NM_021625.4(TRPV4):c.2125C>A:p.Leu709Met	coding	Pathogenic
12	109788532	G	A	G109788532A	TRPV4	NM_021625.4(TRPV4):c.2076C>T:p.Pro692=	coding	Benign
12	109788565	G	A	G109788565A	TRPV4	NM_021625.4(TRPV4):c.2043C>T:p.Gly681=	coding	Benign/Likely_benign
12	109788574	G	A	G109788574A	TRPV4	NM_021625.4(TRPV4):c.2034C>T:p.Ile678=	coding	Benign
12	109788991	A	G	A109788991G	TRPV4	NM_021625.4(TRPV4):c.1892-275T>C	noncoding	Benign
12	109792315	C	T	C109792315T	TRPV4	NM_021625.4(TRPV4):c.1891+48G>A	noncoding	Benign
12	109792379	C	T	C109792379T	TRPV4	NM_021625.4(TRPV4):c.1875G>A:p.Met625Ile	coding	Pathogenic
12	109792396	C	T	C109792396T	TRPV4	NM_021625.4(TRPV4):c.1858G>A:p.Val620Ile	coding	Pathogenic/Likely_pathogenic
12	109792401	A	G	A109792401G	TRPV4	NM_021625.4(TRPV4):c.1853T>C:p.Leu618Pro	coding	Pathogenic
12	109792403	G	T	G109792403T	TRPV4	NM_021625.4(TRPV4):c.1851C>A:p.Phe617Leu	coding	Pathogenic
12	109792407	C	T	C109792407T	TRPV4	NM_021625.4(TRPV4):c.1847G>A:p.Arg616Gln	coding	Pathogenic
12	109792444	G	A	G109792444A	TRPV4	NM_021625.4(TRPV4):c.1825-15C>T	noncoding	Benign/Likely_benign
12	109792648	G	A	G109792648A	TRPV4	NM_021625.4(TRPV4):c.1824+4C>T	noncoding	Benign/Likely_benign
12	109792664	G	C	G109792664C	TRPV4	NM_021625.4(TRPV4):c.1812C>G:p.Ile604Met	coding	Pathogenic
12	109792671	T	C	T109792671C	TRPV4	NM_021625.4(TRPV4):c.1805A>G:p.Tyr602Cys	coding	Pathogenic
12	109792678	C	A	C109792678A	TRPV4	NM_021625.4(TRPV4):c.1798G>T:p.Gly600Trp	coding	Pathogenic
12	109792689	A	G	A109792689G	TRPV4	NM_021625.4(TRPV4):c.1787T>C:p.Leu596Pro	coding	Pathogenic
12	109792695	C	T	C109792695T	TRPV4	NM_021625.4(TRPV4):c.1781G>A:p.Arg594His	coding	Pathogenic
12	109792702	A	G	A109792702G	TRPV4	NM_021625.4(TRPV4):c.1774T>C:p.Phe592Leu	coding	Pathogenic
12	109792704	T	C	T109792704C	TRPV4	NM_021625.4(TRPV4):c.1772A>G:p.Tyr591Cys	coding	Pathogenic
12	109792732	G	A	G109792732A	TRPV4	NM_021625.4(TRPV4):c.1744C>T:p.Leu582=	coding	Benign/Likely_benign
12	109792763	G	C	G109792763C	TRPV4	NM_021625.4(TRPV4):c.1713C>G:p.Ile571Met	coding	Benign/Likely_benign
12	109792792	C	T	C109792792T	TRPV4	NM_021625.4(TRPV4):c.1684G>A:p.Val562Ile	coding	Benign
12	109792907	G	A	G109792907A	TRPV4	NM_021625.4(TRPV4):c.1659-90C>T	noncoding	Benign
12	109793512	G	A	G109793512A	TRPV4	NM_021625.4(TRPV4):c.1658+15C>T	noncoding	Benign/Likely_benign
12	109793560	G	T	G109793560T	TRPV4	NM_021625.4(TRPV4):c.1625C>A:p.Ser542Tyr	coding	Pathogenic
12	109793618	G	A	G109793618A	TRPV4	NM_021625.4(TRPV4):c.1585-18C>T	noncoding	Benign/Likely_benign
12	109793912	C	G	C109793912G	TRPV4	NM_021625.4(TRPV4):c.1584+18G>C	noncoding	Benign
12	109793917	G	A	G109793917A	TRPV4	NM_021625.4(TRPV4):c.1584+13C>T	noncoding	Benign/Likely_benign
12	109793933	G	A	G109793933A	TRPV4	NM_021625.4(TRPV4):c.1581C>T:p.Thr527=	coding	Benign/Likely_benign
12	109793944	A	C	A109793944C	TRPV4	NM_001177431.1(TRPV4):c.1468T>G:p.Phe490Val	coding	Benign
12	109793968	T	C	T109793968C	TRPV4	NM_021625.4(TRPV4):c.1546A>G:p.Ile516Val	coding	Benign/Likely_benign
12	109793975	G	A	G109793975A	TRPV4	NM_021625.4(TRPV4):c.1539C>T:p.Gly513=	coding	Benign/Likely_benign
12	109794243	G	C	G109794243C	TRPV4	NM_021625.4(TRPV4):c.1491+86C>G	noncoding	Benign
12	109794365	G	A	G109794365A	TRPV4	NM_021625.4(TRPV4):c.1455C>T:p.Phe485=	coding	Benign/Likely_benign
12	109794422	G	A	G109794422A	TRPV4	NM_021625.4(TRPV4):c.1398C>T:p.Phe466=	coding	Benign/Likely_benign
12	109794479	G	A	G109794479A	TRPV4	NM_021625.4(TRPV4):c.1341C>T:p.His447=	coding	Benign
12	109794483	C	A	C109794483A	TRPV4	NM_021625.4(TRPV4):c.1337G>T:p.Arg446Leu	coding	Benign/Likely_benign
12	109794503	T	G	T109794503G	TRPV4	NM_021625.5(TRPV4):c.1333-16A>C	noncoding	Benign
12	109796549	G	A	G109796549A	TRPV4	NM_021625.4(TRPV4):c.1308C>T:p.Ile436=	coding	Benign/Likely_benign
12	109796573	C	T	C109796573T	TRPV4	NM_021625.4(TRPV4):c.1284G>A:p.Gly428=	coding	Benign/Likely_benign
12	109796579	C	T	C109796579T	TRPV4	NM_021625.4(TRPV4):c.1278G>A:p.Thr426=	coding	Benign/Likely_benign
12	109796638	T	C	T109796638C	TRPV4	NM_021625.4(TRPV4):c.1219A>G:p.Lys407Glu	coding	Pathogenic
12	109796650	A	T	A109796650T	TRPV4	NM_021625.4(TRPV4):c.1207T>A:p.Ser403Thr	coding	Pathogenic
12	109796714	G	A	G109796714A	TRPV4	NM_021625.4(TRPV4):c.1153-10C>T	noncoding	Benign
12	109796853	T	C	T109796853C	TRPV4	NM_021625.4(TRPV4):c.1153-149A>G	noncoding	Benign
12	109796893	C	T	C109796893T	TRPV4	NM_021625.4(TRPV4):c.1153-189G>A	noncoding	Benign
12	109798673	C	T	C109798673T	TRPV4	NM_021625.4(TRPV4):c.1093G>A:p.Val365Met	coding	Benign/Likely_benign
12	109798692	G	A	G109798692A	TRPV4	NM_021625.4(TRPV4):c.1074C>T:p.Pro358=	coding	Benign/Likely_benign
12	109798742	C	A	C109798742A	TRPV4	NM_021625.4(TRPV4):c.1024G>T:p.Val342Phe	coding	Pathogenic
12	109798768	T	C	T109798768C	TRPV4	NM_021625.4(TRPV4):c.998A>G:p.Asp333Gly	coding	Pathogenic
12	109798774	A	G	A109798774G	TRPV4	NM_021625.4(TRPV4):c.992T>C:p.Ile331Thr	coding	Pathogenic
12	109798775	T	A	T109798775A	TRPV4	NM_021625.4(TRPV4):c.991A>T:p.Ile331Phe	coding	Pathogenic
12	109798819	C	T	C109798819T	TRPV4	NM_021625.4(TRPV4):c.947G>A:p.Arg316His	coding	Pathogenic/Likely_pathogenic
12	109798820	G	A	G109798820A	TRPV4	NM_021625.4(TRPV4):c.946C>T:p.Arg316Cys	coding	Pathogenic
12	109798823	G	A	G109798823A	TRPV4	NM_021625.4(TRPV4):c.943C>T:p.Arg315Trp	coding	Pathogenic/Likely_pathogenic
12	109798823	G	C	G109798823C	TRPV4	NM_021625.5(TRPV4):c.943C>G:p.Arg315Gly	coding	Pathogenic
12	109798830	C	T	C109798830T	TRPV4	NM_021625.4(TRPV4):c.936G>A:p.Ala312=	coding	Benign/Likely_benign
12	109798883	T	C	T109798883C	TRPV4	NM_021625.4(TRPV4):c.883A>G:p.Thr295Ala	coding	Pathogenic
12	109798916	C	T	C109798916T	TRPV4	NM_021625.4(TRPV4):c.854-4G>A	noncoding	Benign/Likely_benign
12	109798917	G	A	G109798917A	TRPV4	NM_021625.4(TRPV4):c.854-5C>T	noncoding	Benign
12	109800460	A	G	A109800460G	TRPV4	NM_021625.4(TRPV4):c.853+158T>C	noncoding	Benign
12	109800497	A	G	A109800497G	TRPV4	NM_021625.4(TRPV4):c.853+121T>C	noncoding	Benign
12	109800645	T	C	T109800645C	TRPV4	NM_021625.4(TRPV4):c.826A>G:p.Lys276Glu	coding	Pathogenic
12	109800652	G	C	G109800652C	TRPV4	NM_021625.4(TRPV4):c.819C>G:p.Phe273Leu	coding	Pathogenic
12	109800659	C	G	C109800659G	TRPV4	NM_021625.4(TRPV4):c.812G>C:p.Arg271Pro	coding	Pathogenic
12	109800661	C	T	C109800661T	TRPV4	NM_021625.4(TRPV4):c.810G>A:p.Gly270=	coding	Benign
12	109800662	C	A	C109800662A	TRPV4	NM_021625.4(TRPV4):c.809G>T:p.Gly270Val	coding	Pathogenic
12	109800665	C	T	C109800665T	TRPV4	NM_021625.4(TRPV4):c.806G>A:p.Arg269His	coding	Pathogenic/Likely_pathogenic
12	109800666	G	A	G109800666A	TRPV4	NM_021625.4(TRPV4):c.805C>T:p.Arg269Cys	coding	Pathogenic
12	109800676	G	A	G109800676A	TRPV4	NM_021625.4(TRPV4):c.795C>T:p.His265=	coding	Benign
12	109800682	A	G	A109800682G	TRPV4	NM_021625.4(TRPV4):c.789T>C:p.Asp263=	coding	Benign
12	109800702	G	C	G109800702C	TRPV4	NM_021625.4(TRPV4):c.769C>G:p.Leu257Val	coding	Benign/Likely_benign
12	109800711	C	T	C109800711T	TRPV4	NM_021625.4(TRPV4):c.760G>A:p.Val254Met	coding	Benign/Likely_benign
12	109800754	C	G	C109800754G	TRPV4	NM_021625.4(TRPV4):c.717G>C:p.Gln239His	coding	Pathogenic
12	109802981	G	A	G109802981A	TRPV4	NM_021625.4(TRPV4):c.712+10C>T	noncoding	Benign/Likely_benign
12	109803009	G	A	G109803009A	TRPV4	NM_021625.4(TRPV4):c.694C>T:p.Arg232Cys	coding	Pathogenic
12	109803033	T	G	T109803033G	TRPV4	NM_021625.4(TRPV4):c.670A>C:p.Arg224=	coding	Benign
12	109803054	C	A	C109803054A	TRPV4	NM_021625.4(TRPV4):c.649G>T:p.Ala217Ser	coding	Benign/Likely_benign
12	109803106	C	G	C109803106G	TRPV4	NM_021625.4(TRPV4):c.597G>C:p.Leu199Phe	coding	Pathogenic
12	109803113	T	C	T109803113C	TRPV4	NM_021625.4(TRPV4):c.590A>G:p.Lys197Arg	coding	Pathogenic
12	109808298	C	T	C109808298T	TRPV4	NM_021625.4(TRPV4):c.557G>A:p.Arg186Gln	coding	Pathogenic/Likely_pathogenic
12	109808306	C	G	C109808306G	TRPV4	NM_021625.4(TRPV4):c.549G>C:p.Glu183Asp	coding	Benign
12	109808306	C	T	C109808306T	TRPV4	NM_021625.4(TRPV4):c.549G>A:p.Glu183=	coding	Benign/Likely_benign
12	109808308	C	T	C109808308T	TRPV4	NM_021625.4(TRPV4):c.547G>A:p.Glu183Lys	coding	Pathogenic
12	109808354	G	A	G109808354A	TRPV4	NM_021625.4(TRPV4):c.501C>T:p.Asp167=	coding	Benign/Likely_benign
12	109808429	C	T	C109808429T	TRPV4	NM_021625.4(TRPV4):c.426G>A:p.Pro142=	coding	Benign/Likely_benign
12	109808459	C	T	C109808459T	TRPV4	NM_021625.4(TRPV4):c.396G>A:p.Pro132=	coding	Benign/Likely_benign
12	109808472	G	A	G109808472A	TRPV4	NM_021625.4(TRPV4):c.387-4C>T	noncoding	Benign
12	109808578	T	C	T109808578C	TRPV4	NM_021625.4(TRPV4):c.387-110A>G	noncoding	Benign
12	109814531	G	A	G109814531A	TRPV4	NM_021625.4(TRPV4):c.266C>T:p.Thr89Ile	coding	Pathogenic
12	109814565	C	A	C109814565A	TRPV4	NM_021625.4(TRPV4):c.232G>T:p.Gly78Trp	coding	Pathogenic
12	109814645	G	A	G109814645A	TRPV4	NM_021625.4(TRPV4):c.152C>T:p.Pro51Leu	coding	Benign/Likely_benign
12	109814716	A	G	A109814716G	TRPV4	NM_021625.4(TRPV4):c.81T>C:p.Gly27=	coding	Benign
12	109814740	G	A	G109814740A	TRPV4	NM_021625.4(TRPV4):c.57C>T:p.Pro19=	coding	Benign/Likely_benign
12	109814742	G	A	G109814742A	TRPV4	NM_021625.4(TRPV4):c.55C>T:p.Pro19Ser	coding	Benign
12	109814764	C	A	C109814764A	TRPV4	NM_021625.4(TRPV4):c.33G>T:p.Gly11=	coding	Benign
12	109814769	C	G	C109814769G	TRPV4	NM_021625.4(TRPV4):c.28G>C:p.Ala10Pro	coding	Benign/Likely_benign
12	109833148	A	G	A109833148G	TRPV4	NM_021625.4(TRPV4):c.-32+202T>C	noncoding	Benign
12	109833546	A	G	A109833546G	TRPV4	NM_021625.4(TRPV4):c.-228T>C	noncoding	Benign
12	109855685	G	A	G109855685A	GLTP	NM_016433.4(GLTP):c.381C>T:p.Asn127=	coding	Benign
12	109855760	G	T	G109855760T	GLTP	NM_016433.4(GLTP):c.306C>A:p.Arg102=	coding	Benign
12	109953098	C	T	C109953098T	GIT2	NM_057169.5(GIT2):c.1236G>A:p.Arg412=	coding	Benign
12	109988993	G	A	G109988993A	GIT2	NM_057169.5(GIT2):c.375C>T:p.Asp125=	coding	Benign
12	109988999	C	T	C109988999T	GIT2	NM_057169.5(GIT2):c.369G>A:p.Arg123=	coding	Benign
12	110129066	T	A	T110129066A	IFT81	NM_014055.4(IFT81):c.365T>A:p.Leu122Ter	coding	Pathogenic
12	110135405	C	G	C110135405G	IFT81	NM_014055.4(IFT81):c.664C>G:p.Leu222Val	coding	Benign
12	110143392	G	A	G110143392A	IFT81	NM_014055.4(IFT81):c.792G>A:p.Lys264=	coding	Benign
12	110180446	C	T	C110180446T	IFT81	NM_014055.4(IFT81):c.1213C>T:p.Arg405Ter	coding	Pathogenic
12	110191022	C	T	C110191022T	IFT81	NM_014055.4(IFT81):c.1441C>T:p.Arg481Ter	coding	Pathogenic
12	110281290	T	C	T110281290C	ATP2A2	NM_170665.4(ATP2A2):c.-500T>C	noncoding	Benign
12	110281387	C	G	C110281387G	ATP2A2	NM_170665.4(ATP2A2):c.-403C>G	noncoding	Benign
12	110281516	G	C	G110281516C	ATP2A2	NM_170665.4(ATP2A2):c.-274G>C	noncoding	Benign
12	110281550	G	A	G110281550A	ATP2A2	NM_170665.4(ATP2A2):c.-240G>A	noncoding	Benign
12	110281775	C	T	C110281775T	ATP2A2	NM_170665.4(ATP2A2):c.-15C>T	noncoding	Benign
12	110281780	C	G	C110281780G	ATP2A2	NM_170665.4(ATP2A2):c.-10C>G	noncoding	Benign/Likely_benign
12	110281790	A	T	A110281790T	ATP2A2	NM_170665.4(ATP2A2):c.1A>T:p.Met1Leu	coding	Pathogenic
12	110281857	G	A	G110281857A	ATP2A2	NM_170665.4(ATP2A2):c.68G>A:p.Gly23Glu	coding	Pathogenic
12	110281870	A	G	A110281870G	ATP2A2	NM_170665.4(ATP2A2):c.81A>G:p.Glu27=	coding	Benign
12	110281883	C	T	C110281883T	ATP2A2	NM_170665.4(ATP2A2):c.94C>T:p.Leu32Phe	coding	Benign
12	110282614	T	A	T110282614A	ATP2A2	NM_170665.4(ATP2A2):c.129T>A:p.Ala43=	coding	Benign
12	110282701	T	C	T110282701C	ATP2A2	NM_170665.4(ATP2A2):c.137-12T>C	noncoding	Benign
12	110292002	G	A	G110292002A	ATP2A2	NM_170665.4(ATP2A2):c.220-18G>A	noncoding	Benign
12	110292122	C	T	C110292122T	ATP2A2	NM_170665.4(ATP2A2):c.322C>T:p.Gln108Ter	coding	Pathogenic
12	110296601	A	G	A110296601G	ATP2A2	NM_170665.4(ATP2A2):c.327A>G:p.Glu109=	coding	Benign/Likely_benign
12	110296666	G	A	G110296666A	ATP2A2	NM_170665.4(ATP2A2):c.392G>A:p.Arg131Gln	coding	Pathogenic
12	110322922	C	A	C110322922A	ATP2A2	NM_170665.4(ATP2A2):c.464-70C>A	noncoding	Benign
12	110323073	G	A	G110323073A	ATP2A2	NM_170665.4(ATP2A2):c.544+1G>A	coding	Pathogenic
12	110326383	C	T	C110326383T	ATP2A2	NM_170665.4(ATP2A2):c.545-7C>T	noncoding	Benign
12	110327725	G	T	G110327725T	ATP2A2	NM_170665.4(ATP2A2):c.803G>T:p.Cys268Phe	coding	Pathogenic
12	110332581	C	T	C110332581T	ATP2A2	NM_170665.4(ATP2A2):c.1096-16C>T	noncoding	Benign
12	110332585	C	G	C110332585G	ATP2A2	NM_170665.4(ATP2A2):c.1096-12C>G	noncoding	Benign
12	110332668	T	C	T110332668C	ATP2A2	NM_170665.4(ATP2A2):c.1167T>C:p.Tyr389=	coding	Benign
12	110333180	G	A	G110333180A	ATP2A2	NM_170665.4(ATP2A2):c.1185-1G>A	noncoding	Pathogenic
12	110333286	A	G	A110333286G	ATP2A2	NM_170665.4(ATP2A2):c.1287+3A>G	noncoding	Benign
12	110334047	A	G	A110334047G	ATP2A2	NM_170665.4(ATP2A2):c.1323A>G:p.Thr441=	coding	Benign
12	110334096	G	T	G110334096T	ATP2A2	NM_170665.4(ATP2A2):c.1372G>T:p.Glu458Ter	coding	Pathogenic
12	110339273	C	G	C110339273G	ATP2A2	NM_170665.4(ATP2A2):c.1420-8C>G	noncoding	Benign
12	110339290	C	T	C110339290T	ATP2A2	NM_170665.4(ATP2A2):c.1429C>T:p.Gln477Ter	coding	Pathogenic
12	110339314	C	T	C110339314T	ATP2A2	NM_170665.4(ATP2A2):c.1453C>T:p.Leu485=	coding	Benign
12	110339638	T	C	T110339638C	ATP2A2	NM_170665.4(ATP2A2):c.1678T>C:p.Cys560Arg	coding	Pathogenic
12	110340702	C	T	C110340702T	ATP2A2	NM_170665.4(ATP2A2):c.1805C>T:p.Pro602Leu	coding	Pathogenic
12	110340809	A	G	A110340809G	ATP2A2	NM_170665.4(ATP2A2):c.1912A>G:p.Ile638Val	coding	Benign
12	110340955	C	T	C110340955T	ATP2A2	NM_170665.4(ATP2A2):c.2058C>T:p.Ile686=	coding	Benign
12	110340990	C	T	C110340990T	ATP2A2	NM_170665.4(ATP2A2):c.2093C>T:p.Ala698Val	coding	Pathogenic
12	110342236	T	C	T110342236C	ATP2A2	NM_170665.4(ATP2A2):c.2106T>C:p.Asp702=	coding	Benign
12	110342302	G	A	G110342302A	ATP2A2	NM_170665.4(ATP2A2):c.2172G>A:p.Ala724=	coding	Benign
12	110342332	G	A	G110342332A	ATP2A2	NM_170665.4(ATP2A2):c.2202G>A:p.Leu734=	coding	Benign
12	110342430	A	G	A110342430G	ATP2A2	NM_170665.4(ATP2A2):c.2300A>G:p.Asn767Ser	coding	Pathogenic
12	110342435	G	A	G110342435A	ATP2A2	NM_170665.4(ATP2A2):c.2305G>A:p.Gly769Arg	coding	Pathogenic
12	110343220	G	A	G110343220A	ATP2A2	NM_170665.4(ATP2A2):c.2319-12G>A	noncoding	Benign
12	110343297	A	G	A110343297G	ATP2A2	NM_170665.4(ATP2A2):c.2384A>G:p.Asn795Ser	coding	Pathogenic
12	110345269	A	G	A110345269G	ATP2A2	NM_170665.4(ATP2A2):c.2628A>G:p.Lys876=	coding	Benign
12	110345323	C	A	C110345323A	ATP2A2	NM_170665.4(ATP2A2):c.2682C>A:p.Tyr894Ter	coding	Pathogenic
12	110345995	C	T	C110345995T	ATP2A2	NM_170665.4(ATP2A2):c.2742-6C>T	noncoding	Benign
12	110346007	C	T	C110346007T	ATP2A2	NM_170665.4(ATP2A2):c.2748C>T:p.Ser916=	coding	Benign
12	110346266	C	T	C110346266T	ATP2A2	NM_170665.4(ATP2A2):c.2925C>T:p.Pro975=	coding	Benign
12	110346333	G	T	G110346333T	ATP2A2	NM_170665.4(ATP2A2):c.2992G>T:p.Val998Leu	coding	Benign
12	110350293	A	C	A110350293C	ATP2A2	NM_170665.4(ATP2A2):c.*3823A>C	coding	Benign
12	110350345	G	A	G110350345A	ATP2A2	NM_170665.4(ATP2A2):c.*3875G>A	noncoding	Benign
12	110350517	A	G	A110350517G	ATP2A2	NM_170665.4(ATP2A2):c.*4047A>G	noncoding	Benign
12	110350673	A	G	A110350673G	ATP2A2	NM_170665.4(ATP2A2):c.*4203A>G	noncoding	Benign
12	110350898	C	T	C110350898T	ATP2A2	NM_170665.4(ATP2A2):c.*4428C>T	noncoding	Benign
12	110351048	G	A	G110351048A	ATP2A2	NM_170665.4(ATP2A2):c.*4578G>A	noncoding	Benign
12	110351050	C	T	C110351050T	ATP2A2	NM_170665.4(ATP2A2):c.*4580C>T	noncoding	Benign
12	110614414	G	C	G110614414C	TCTN1	NM_001082538.3(TCTN1):c.220+12G>C	coding	Benign/Likely_benign
12	110614660	T	A	T110614660A	TCTN1	NM_001082538.3(TCTN1):c.220+258T>A	noncoding	Benign
12	110619834	A	G	A110619834G	TCTN1	NM_001082538.3(TCTN1):c.221-2A>G	noncoding	Pathogenic
12	110619942	A	G	A110619942G	TCTN1	NM_001082538.3(TCTN1):c.327A>G:p.Ser109=	coding	Benign/Likely_benign
12	110626360	A	G	A110626360G	TCTN1	NM_001082538.3(TCTN1):c.342-2A>G	noncoding	Pathogenic
12	110628757	T	A	T110628757A	TCTN1	NM_001082538.3(TCTN1):c.473-10T>A	noncoding	Benign
12	110628782	C	A	C110628782A	TCTN1	NM_001082538.3(TCTN1):c.488C>A:p.Ser163Tyr	coding	Benign/Likely_benign
12	110632364	G	C	G110632364C	TCTN1	NM_001082538.3(TCTN1):c.625-108G>C	noncoding	Benign
12	110635014	T	C	T110635014C	TCTN1	NM_001082538.3(TCTN1):c.822+235T>C	noncoding	Benign
12	110636502	G	C	G110636502C	TCTN1	NM_001082538.3(TCTN1):c.843+1G>C	coding	Pathogenic
12	110640433	C	T	C110640433T	TCTN1	NM_001082538.3(TCTN1):c.894C>T:p.Leu298=	coding	Benign
12	110640437	C	T	C110640437T	TCTN1	NM_001082538.3(TCTN1):c.898C>T:p.Arg300Ter	coding	Pathogenic
12	110642292	A	G	A110642292G	TCTN1	NM_001082538.3(TCTN1):c.1234A>G:p.Ile412Val	coding	Benign/Likely_benign
12	110645014	G	C	G110645014C	TCTN1	NM_001082538.3(TCTN1):c.1379G>C:p.Ser460Thr	coding	Benign/Likely_benign
12	110645031	G	T	G110645031T	TCTN1	NM_001082538.3(TCTN1):c.1396G>T:p.Gly466Cys	coding	Benign
12	110645089	G	A	G110645089A	TCTN1	NM_001082538.3(TCTN1):c.1454G>A:p.Trp485Ter	coding	Pathogenic
12	110645279	G	T	G110645279T	TCTN1	NM_001082538.3(TCTN1):c.1494+150G>T	noncoding	Benign
12	110648075	A	G	A110648075G	TCTN1	NM_001082538.3(TCTN1):c.1+182A>G	noncoding	Benign
12	110911122	G	A	G110911122A	MYL2	NM_000432.3(MYL2):c.456C>T:p.Tyr152=	coding	Benign/Likely_benign
12	110911176	C	G	C110911176G	MYL2	NM_000432.3(MYL2):c.403-1G>C	coding	Pathogenic/Likely_pathogenic
12	110913117	C	T	C110913117T	MYL2	NM_000432.4(MYL2):c.381G>A:p.Ala127=	coding	Benign/Likely_benign
12	110913230	C	T	C110913230T	MYL2	NM_000432.3(MYL2):c.353+16G>A	noncoding	Benign
12	110913234	G	T	G110913234T	MYL2	NM_000432.4(MYL2):c.353+12C>A	noncoding	Benign/Likely_benign
12	110913257	C	T	C110913257T	MYL2	NM_000432.4(MYL2):c.342G>A:p.Leu114=	coding	Benign/Likely_benign
12	110913316	G	C	G110913316C	MYL2	NM_000432.3(MYL2):c.283C>G:p.Pro95Ala	coding	Pathogenic
12	110913320	C	T	C110913320T	MYL2	NM_000432.4(MYL2):c.279G>A:p.Ala93=	coding	Benign/Likely_benign
12	110913331	C	T	C110913331T	MYL2	NM_000432.3(MYL2):c.275-7G>A	noncoding	Benign/Likely_benign
12	110914169	C	G	C110914169G	MYL2	NM_000432.3(MYL2):c.274+17G>C	noncoding	Benign
12	110914171	C	G	C110914171G	MYL2	NM_000432.3(MYL2):c.274+15G>C	noncoding	Benign
12	110914217	C	A	C110914217A	MYL2	NM_000432.4(MYL2):c.243G>T:p.Val81=	coding	Benign/Likely_benign
12	110914221	G	T	G110914221T	MYL2	NM_000432.4(MYL2):c.239C>A:p.Thr80Asn	coding	Pathogenic/Likely_pathogenic
12	110914287	C	T	C110914287T	MYL2	NM_000432.4(MYL2):c.173G>A:p.Arg58Gln	coding	Pathogenic/Likely_pathogenic
12	110914309	A	G	A110914309G	MYL2	NM_000432.3(MYL2):c.170-19T>C	noncoding	Benign
12	110914344	A	G	A110914344G	MYL2	NM_000432.3(MYL2):c.170-54T>C	noncoding	Benign
12	110915752	A	G	A110915752G	MYL2	NM_000432.4(MYL2):c.132T>C:p.Ile44=	coding	Benign
12	110919133	C	T	C110919133T	MYL2	NM_000432.4(MYL2):c.64G>A:p.Glu22Lys	coding	Pathogenic/Likely_pathogenic
12	110919161	G	A	G110919161A	MYL2	NM_000432.4(MYL2):c.36C>T:p.Gly12=	coding	Benign/Likely_benign
12	110919164	C	T	C110919164T	MYL2	NM_000432.4(MYL2):c.33G>A:p.Gly11=	coding	Benign/Likely_benign
12	110919207	G	A	G110919207A	MYL2	NM_000432.4(MYL2):c.4-14C>T	noncoding	Benign
12	110919211	C	T	C110919211T	MYL2	NM_000432.3(MYL2):c.4-18G>A	noncoding	Benign
12	110920430	G	A	G110920430A	MYL2	NM_000432.3(MYL2):c.3+97C>T	noncoding	Benign
12	110920525	A	G	A110920525G	MYL2	NM_000432.4(MYL2):c.3+2T>C	noncoding	Pathogenic
12	110920526	C	A	C110920526A	MYL2	NM_000432.3(MYL2):c.3+1G>T	noncoding	Pathogenic
12	110920575	C	T	C110920575T	MYL2	NM_000432.3(MYL2):c.-46G>A	noncoding	Benign
12	111214217	C	T	C111214217T	CUX2	NM_015267.4(CUX2):c.81C>T:p.Val27=	coding	Benign
12	111291533	C	T	C111291533T	CUX2	NM_015267.4(CUX2):c.417C>T:p.Pro139=	coding	Benign
12	111293572	G	A	G111293572A	CUX2	NM_015267.4(CUX2):c.560+3G>A	noncoding	Benign
12	111307091	G	A	G111307091A	CUX2	NM_015267.4(CUX2):c.1029G>A:p.Thr343=	coding	Benign
12	111310035	T	C	T111310035C	CUX2	NM_015267.4(CUX2):c.1259-6T>C	noncoding	Benign
12	111320279	C	T	C111320279T	CUX2	NM_015267.4(CUX2):c.2270C>T:p.Ala757Val	coding	Benign
12	111320388	C	T	C111320388T	CUX2	NM_015267.4(CUX2):c.2379C>T:p.Arg793=	coding	Benign
12	111320613	C	T	C111320613T	CUX2	NM_015267.4(CUX2):c.2604C>T:p.Tyr868=	coding	Benign
12	111320652	G	A	G111320652A	CUX2	NM_015267.4(CUX2):c.2643G>A:p.Pro881=	coding	Benign
12	111338434	C	T	C111338434T	CUX2	NM_015267.4(CUX2):c.3345C>T:p.Asn1115=	coding	Benign
12	111418639	C	G	C111418639G	SH2B3	NM_005475.2(SH2B3):c.494C>G:p.Thr165Ser	coding	Benign
12	111418685	G	A	G111418685A	SH2B3	NM_005475.3(SH2B3):c.540G>A:p.Lys180=	coding	Benign
12	111418874	C	T	C111418874T	SH2B3	NM_005475.3(SH2B3):c.729C>T:p.Pro243=	coding	Benign
12	111446815	G	A	G111446815A	SH2B3	NM_005475.3(SH2B3):c.795G>A:p.Arg265=	coding	Benign
12	111447491	G	A	G111447491A	SH2B3	NM_001291424.1(SH2B3):c.577G>A:p.Glu193Lys	coding	Pathogenic
12	111448097	G	A	G111448097A	SH2B3	NM_005475.3(SH2B3):c.1523G>A:p.Arg508Gln	coding	Benign
12	111453794	T	C	T111453794C	ATXN2	NM_001372574.1(ATXN2):c.3322A>G:p.Met1108Val	coding	Benign
12	111599125	G	A	G111599125A	ATXN2	NM_002973.4(ATXN2):c.-91C>T	coding	Benign/Likely_benign
12	111599196	G	C	G111599196C	ATXN2	NM_002973.4(ATXN2):c.-162C>G	coding	Benign/Likely_benign
12	111599210	C	G	C111599210G	ATXN2	NM_002973.4(ATXN2):c.-176G>C	coding	Benign
12	111650001	C	T	C111650001T	BRAP	NM_006768.5(BRAP):c.1353G>A:p.Lys451=	coding	Benign
12	111659253	C	T	C111659253T	BRAP	NM_006768.5(BRAP):c.1065G>A:p.Thr355=	coding	Benign
12	111659295	G	A	G111659295A	BRAP	NM_006768.5(BRAP):c.1023C>T:p.Val341=	coding	Benign
12	111665785	G	A	G111665785A	BRAP	NM_006768.5(BRAP):c.750C>T:p.Gly250=	coding	Benign
12	111679205	A	G	A111679205G	BRAP	NM_006768.5(BRAP):c.579T>C:p.Ile193=	coding	Benign
12	111683264	G	A	G111683264A	BRAP	NM_006768.5(BRAP):c.126C>T:p.Ala42=	coding	Benign
12	111783212	C	A	C111783212A	ALDH2	NM_000690.4(ALDH2):c.274C>A:p.Pro92Thr	coding	Benign
12	111783251	C	T	C111783251T	ALDH2	NM_000690.4(ALDH2):c.313C>T:p.Leu105=	coding	Benign
12	111792115	T	C	T111792115C	ALDH2	NM_000690.4(ALDH2):c.850T>C:p.Leu284=	coding	Benign
12	111792609	G	A	G111792609A	ALDH2	NM_000690.4(ALDH2):c.910G>A:p.Val304Met	coding	Benign
12	111799980	G	A	G111799980A	ALDH2	NM_000690.4(ALDH2):c.1323G>A:p.Thr441=	coding	Benign
12	111803916	G	A	G111803916A	ALDH2	NM_000690.4(ALDH2):c.1464G>A:p.Ser488=	coding	Benign
12	112142141	G	A	G112142141A	TRAFD1	NM_006700.3(TRAFD1):c.696G>A:p.Glu232=	coding	Benign
12	112163079	C	T	C112163079T	HECTD4	NM_001109662.4(HECTD4):c.13113G>A:p.Pro4371=	coding	Benign
12	112167392	G	A	G112167392A	HECTD4	NM_001109662.4(HECTD4):c.12489C>T:p.Gly4163=	coding	Benign
12	112167443	G	A	G112167443A	HECTD4	NM_001109662.4(HECTD4):c.12438C>T:p.Asp4146=	coding	Benign
12	112216356	C	T	C112216356T	HECTD4	NM_001109662.4(HECTD4):c.7431G>A:p.Val2477=	coding	Benign
12	112216859	T	G	T112216859G	HECTD4	NM_001109662.4(HECTD4):c.7329A>C:p.Gly2443=	coding	Benign
12	112235670	G	A	G112235670A	HECTD4	NM_001109662.4(HECTD4):c.5589C>T:p.Cys1863=	coding	Benign
12	112418795	C	T	C112418795T	PTPN11	NM_001320141.2(RPL6):c.-296G>A	noncoding	Benign
12	112418825	G	C	G112418825C	PTPN11	NM_001320141.2(RPL6):c.-326C>G	noncoding	Benign/Likely_benign
12	112418839	G	A	G112418839A	PTPN11	NM_002834.4(PTPN11):c.-273G>A	noncoding	Benign
12	112419067	T	G	T112419067G	PTPN11	NM_002834.4(PTPN11):c.-45T>G	noncoding	Benign
12	112419116	C	T	C112419116T	PTPN11	NM_002834.5(PTPN11):c.5C>T:p.Thr2Ile	coding	Pathogenic
12	112419150	G	C	G112419150C	PTPN11	NM_002834.4(PTPN11):c.14+25G>C	noncoding	Benign
12	112419179	C	A	C112419179A	PTPN11	NM_002834.4(PTPN11):c.14+54C>A	noncoding	Benign
12	112446238	C	T	C112446238T	PTPN11	NM_002834.4(PTPN11):c.15-38C>T	noncoding	Benign
12	112446314	A	G	A112446314G	PTPN11	NM_002834.4(PTPN11):c.53A>G:p.Asn18Ser	coding	Benign
12	112446385	A	G	A112446385G	PTPN11	NM_002834.5(PTPN11):c.124A>G:p.Thr42Ala	coding	Pathogenic
12	112446393	C	A	C112446393A	PTPN11	NM_002834.4(PTPN11):c.132C>A:p.Ser44=	coding	Benign
12	112446433	G	A	G112446433A	PTPN11	NM_002834.4(PTPN11):c.137+35G>A	noncoding	Benign
12	112450137	G	C	G112450137C	PTPN11	NM_002834.4(PTPN11):c.138-181G>C	noncoding	Benign
12	112450346	A	G	A112450346G	PTPN11	NM_002834.5(PTPN11):c.166A>G:p.Ile56Val	coding	Pathogenic
12	112450352	A	C	A112450352C	PTPN11	NM_002834.5(PTPN11):c.172A>C:p.Asn58His	coding	Pathogenic
12	112450352	A	G	A112450352G	PTPN11	NM_002834.5(PTPN11):c.172A>G:p.Asn58Asp	coding	Pathogenic
12	112450352	A	T	A112450352T	PTPN11	NM_002834.4(PTPN11):c.172A>T:p.Asn58Tyr	coding	Pathogenic/Likely_pathogenic
12	112450354	C	A	C112450354A	PTPN11	NM_002834.5(PTPN11):c.174C>A:p.Asn58Lys	coding	Pathogenic
12	112450354	C	G	C112450354G	PTPN11	NM_002834.5(PTPN11):c.174C>G:p.Asn58Lys	coding	Pathogenic/Likely_pathogenic
12	112450358	G	A	G112450358A	PTPN11	NM_002834.5(PTPN11):c.178G>A:p.Gly60Ser	coding	Pathogenic
12	112450358	G	C	G112450358C	PTPN11	NM_002834.4(PTPN11):c.178G>C:p.Gly60Arg	coding	Pathogenic/Likely_pathogenic
12	112450358	G	T	G112450358T	PTPN11	NM_002834.4(PTPN11):c.178G>T:p.Gly60Cys	coding	Pathogenic
12	112450359	G	C	G112450359C	PTPN11	NM_002834.5(PTPN11):c.179G>C:p.Gly60Ala	coding	Pathogenic
12	112450359	G	T	G112450359T	PTPN11	NM_002834.4(PTPN11):c.179G>T:p.Gly60Val	coding	Pathogenic
12	112450361	G	A	G112450361A	PTPN11	NM_002834.5(PTPN11):c.181G>A:p.Asp61Asn	coding	Pathogenic
12	112450361	G	C	G112450361C	PTPN11	NM_002834.4(PTPN11):c.181G>C:p.Asp61His	coding	Pathogenic
12	112450361	G	T	G112450361T	PTPN11	NM_002834.5(PTPN11):c.181G>T:p.Asp61Tyr	coding	Pathogenic
12	112450362	A	C	A112450362C	PTPN11	NM_002834.5(PTPN11):c.182A>C:p.Asp61Ala	coding	Pathogenic/Likely_pathogenic
12	112450362	A	G	A112450362G	PTPN11	NM_002834.5(PTPN11):c.182A>G:p.Asp61Gly	coding	Pathogenic
12	112450362	A	T	A112450362T	PTPN11	NM_002834.4(PTPN11):c.182A>T:p.Asp61Val	coding	Pathogenic
12	112450364	T	G	T112450364G	PTPN11	NM_002834.5(PTPN11):c.184T>G:p.Tyr62Asp	coding	Pathogenic
12	112450368	A	G	A112450368G	PTPN11	NM_002834.5(PTPN11):c.188A>G:p.Tyr63Cys	coding	Pathogenic
12	112450385	G	C	G112450385C	PTPN11	NM_002834.5(PTPN11):c.205G>C:p.Glu69Gln	coding	Pathogenic
12	112450389	A	G	A112450389G	PTPN11	NM_002834.5(PTPN11):c.209A>G:p.Lys70Arg	coding	Pathogenic
12	112450391	T	C	T112450391C	PTPN11	NM_002834.5(PTPN11):c.211T>C:p.Phe71Leu	coding	Pathogenic/Likely_pathogenic
12	112450391	T	G	T112450391G	PTPN11	NM_002834.4(PTPN11):c.211T>G:p.Phe71Val	coding	Pathogenic
12	112450394	G	A	G112450394A	PTPN11	NM_002834.5(PTPN11):c.214G>A:p.Ala72Thr	coding	Pathogenic/Likely_pathogenic
12	112450394	G	C	G112450394C	PTPN11	NM_002834.5(PTPN11):c.214G>C:p.Ala72Pro	coding	Pathogenic/Likely_pathogenic
12	112450394	G	T	G112450394T	PTPN11	NM_002834.5(PTPN11):c.214G>T:p.Ala72Ser	coding	Pathogenic
12	112450395	C	G	C112450395G	PTPN11	NM_002834.5(PTPN11):c.215C>G:p.Ala72Gly	coding	Pathogenic/Likely_pathogenic
12	112450397	A	C	A112450397C	PTPN11	NM_002834.4(PTPN11):c.217A>C:p.Thr73Pro	coding	Pathogenic
12	112450398	C	T	C112450398T	PTPN11	NM_002834.5(PTPN11):c.218C>T:p.Thr73Ile	coding	Pathogenic
12	112450406	G	A	G112450406A	PTPN11	NM_002834.4(PTPN11):c.226G>A:p.Glu76Lys	coding	Pathogenic
12	112450406	G	C	G112450406C	PTPN11	NM_002834.4(PTPN11):c.226G>C:p.Glu76Gln	coding	Pathogenic
12	112450407	A	C	A112450407C	PTPN11	NM_002834.4(PTPN11):c.227A>C:p.Glu76Ala	coding	Pathogenic
12	112450407	A	G	A112450407G	PTPN11	NM_002834.5(PTPN11):c.227A>G:p.Glu76Gly	coding	Pathogenic
12	112450407	A	T	A112450407T	PTPN11	NM_002834.4(PTPN11):c.227A>T:p.Glu76Val	coding	Pathogenic
12	112450408	G	C	G112450408C	PTPN11	NM_002834.5(PTPN11):c.228G>C:p.Glu76Asp	coding	Pathogenic
12	112450408	G	T	G112450408T	PTPN11	NM_002834.5(PTPN11):c.228G>T:p.Glu76Asp	coding	Pathogenic
12	112450416	A	G	A112450416G	PTPN11	NM_002834.5(PTPN11):c.236A>G:p.Gln79Arg	coding	Pathogenic
12	112450435	C	T	C112450435T	PTPN11	NM_002834.5(PTPN11):c.255C>T:p.His85=	coding	Benign
12	112450475	A	T	A112450475T	PTPN11	NM_002834.4(PTPN11):c.295A>T:p.Lys99Ter	coding	Pathogenic
12	112450497	A	C	A112450497C	PTPN11	NM_002834.5(PTPN11):c.317A>C:p.Asp106Ala	coding	Pathogenic
12	112450508	G	A	G112450508A	PTPN11	NM_002834.5(PTPN11):c.328G>A:p.Glu110Lys	coding	Pathogenic/Likely_pathogenic
12	112450509	A	C	A112450509C	PTPN11	NM_002834.4(PTPN11):c.329A>C:p.Glu110Ala	coding	Pathogenic/Likely_pathogenic
12	112450529	T	G	T112450529G	PTPN11	NM_002834.4(PTPN11):c.332+17T>G	noncoding	Benign
12	112452972	A	G	A112452972G	PTPN11	NM_002834.4(PTPN11):c.333-223A>G	noncoding	Benign
12	112453274	C	T	C112453274T	PTPN11	NM_002834.4(PTPN11):c.412C>T:p.Arg138Ter	coding	Pathogenic
12	112453279	G	C	G112453279C	PTPN11	NM_002834.5(PTPN11):c.417G>C:p.Glu139Asp	coding	Pathogenic
12	112453279	G	T	G112453279T	PTPN11	NM_002834.5(PTPN11):c.417G>T:p.Glu139Asp	coding	Pathogenic
12	112453348	C	T	C112453348T	PTPN11	NM_002834.4(PTPN11):c.486C>T:p.Asp162=	coding	Benign/Likely_benign
12	112453399	G	C	G112453399C	PTPN11	NM_002834.5(PTPN11):c.525+12G>C	noncoding	Benign
12	112454547	T	C	T112454547C	PTPN11	NM_002834.4(PTPN11):c.526-17T>C	noncoding	Benign/Likely_benign
12	112454556	C	A	C112454556A	PTPN11	NM_002834.5(PTPN11):c.526-8C>A	noncoding	Benign
12	112454596	G	T	G112454596T	PTPN11	NM_002834.5(PTPN11):c.558G>T:p.Arg186=	coding	Benign
12	112454607	T	A	T112454607A	PTPN11	NM_002834.5(PTPN11):c.569T>A:p.Leu190Ter	coding	Pathogenic
12	112454636	A	T	A112454636T	PTPN11	NM_002834.5(PTPN11):c.598A>T:p.Asn200Tyr	coding	Pathogenic/Likely_pathogenic
12	112455948	A	C	A112455948C	PTPN11	NM_002834.4(PTPN11):c.643-2A>C	noncoding	Pathogenic
12	112455968	A	G	A112455968G	PTPN11	NM_002834.4(PTPN11):c.661A>G:p.Ile221Val	coding	Pathogenic
12	112472875	T	C	T112472875C	PTPN11	NM_002834.4(PTPN11):c.757-69T>C	noncoding	Benign
12	112472954	A	G	A112472954G	PTPN11	NM_002834.5(PTPN11):c.767A>G:p.Gln256Arg	coding	Pathogenic/Likely_pathogenic
12	112472961	G	T	G112472961T	PTPN11	NM_002834.5(PTPN11):c.774G>T:p.Glu258Asp	coding	Pathogenic/Likely_pathogenic
12	112472968	C	T	C112472968T	PTPN11	NM_002834.5(PTPN11):c.781C>T:p.Leu261Phe	coding	Pathogenic
12	112472972	T	G	T112472972G	PTPN11	NM_002834.4(PTPN11):c.785T>G:p.Leu262Arg	coding	Pathogenic
12	112472981	G	A	G112472981A	PTPN11	NM_002834.5(PTPN11):c.794G>A:p.Arg265Gln	coding	Pathogenic
12	112472989	G	T	G112472989T	PTPN11	NM_002834.5(PTPN11):c.802G>T:p.Gly268Cys	coding	Pathogenic/Likely_pathogenic
12	112473023	A	C	A112473023C	PTPN11	NM_002834.4(PTPN11):c.836A>C:p.Tyr279Ser	coding	Pathogenic
12	112473023	A	G	A112473023G	PTPN11	NM_002834.5(PTPN11):c.836A>G:p.Tyr279Cys	coding	Pathogenic/Likely_pathogenic
12	112473031	A	G	A112473031G	PTPN11	NM_002834.5(PTPN11):c.844A>G:p.Ile282Val	coding	Pathogenic
12	112473032	T	C	T112473032C	PTPN11	NM_002834.4(PTPN11):c.845T>C:p.Ile282Thr	coding	Pathogenic
12	112473033	C	G	C112473033G	PTPN11	NM_002834.5(PTPN11):c.846C>G:p.Ile282Met	coding	Pathogenic/Likely_pathogenic
12	112473040	T	A	T112473040A	PTPN11	NM_080601.3(PTPN11):c.853T>A:p.Phe285Ile	coding	Pathogenic
12	112473040	T	C	T112473040C	PTPN11	NM_002834.5(PTPN11):c.853T>C:p.Phe285Leu	coding	Pathogenic
12	112477619	A	C	A112477619C	PTPN11	NM_002834.5(PTPN11):c.854-32A>C	noncoding	Benign
12	112477621	T	C	T112477621C	PTPN11	NM_002834.4(PTPN11):c.854-30T>C	noncoding	Benign
12	112477630	C	T	C112477630T	PTPN11	NM_002834.4(PTPN11):c.854-21C>T	noncoding	Benign
12	112477651	T	A	T112477651A	PTPN11	NM_002834.4(PTPN11):c.854T>A:p.Phe285Tyr	coding	Pathogenic
12	112477651	T	C	T112477651C	PTPN11	NM_002834.5(PTPN11):c.854T>C:p.Phe285Ser	coding	Pathogenic
12	112477651	T	G	T112477651G	PTPN11	NM_002834.5(PTPN11):c.854T>G:p.Phe285Cys	coding	Pathogenic
12	112477652	T	G	T112477652G	PTPN11	NM_002834.5(PTPN11):c.855T>G:p.Phe285Leu	coding	Pathogenic
12	112477676	C	T	C112477676T	PTPN11	NM_002834.4(PTPN11):c.879C>T:p.His293=	coding	Benign/Likely_benign
12	112477719	A	G	A112477719G	PTPN11	NM_002834.5(PTPN11):c.922A>G:p.Asn308Asp	coding	Pathogenic
12	112477720	A	C	A112477720C	PTPN11	NM_002834.5(PTPN11):c.923A>C:p.Asn308Thr	coding	Pathogenic
12	112477720	A	G	A112477720G	PTPN11	NM_002834.5(PTPN11):c.923A>G:p.Asn308Ser	coding	Pathogenic
12	112477722	A	G	A112477722G	PTPN11	NM_002834.5(PTPN11):c.925A>G:p.Ile309Val	coding	Benign
12	112477741	C	T	C112477741T	PTPN11	NM_002834.4(PTPN11):c.933+11C>T	noncoding	Benign
12	112477845	C	T	C112477845T	PTPN11	NM_002834.4(PTPN11):c.934-12C>T	noncoding	Benign
12	112477874	G	A	G112477874A	PTPN11	NM_002834.4(PTPN11):c.951G>A:p.Lys317=	coding	Benign
12	112477913	A	C	A112477913C	PTPN11	NM_002834.5(PTPN11):c.990A>C:p.Thr330=	coding	Benign/Likely_benign
12	112477919	C	T	C112477919T	PTPN11	NM_002834.4(PTPN11):c.996C>T:p.Gly332=	coding	Benign/Likely_benign
12	112477951	G	A	G112477951A	PTPN11	NM_002834.4(PTPN11):c.1028G>A:p.Arg343Gln	coding	Benign
12	112477974	C	T	C112477974T	PTPN11	NM_002834.4(PTPN11):c.1051C>T:p.Arg351Ter	coding	Pathogenic
12	112477975	G	A	G112477975A	PTPN11	NM_002834.4(PTPN11):c.1052G>A:p.Arg351Gln	coding	Benign
12	112482065	C	A	C112482065A	PTPN11	NM_002834.5(PTPN11):c.1093-9C>A	noncoding	Benign
12	112482073	G	T	G112482073T	PTPN11	NM_002834.4(PTPN11):c.1093-1G>T	noncoding	Pathogenic
12	112482093	G	A	G112482093A	PTPN11	NM_002834.4(PTPN11):c.1112G>A:p.Trp371Ter	coding	Pathogenic
12	112482202	A	G	A112482202G	PTPN11	NM_002834.4(PTPN11):c.1221A>G:p.Gly407=	coding	Benign
12	112482220	G	A	G112482220A	PTPN11	NM_002834.5(PTPN11):c.1224+15G>A	noncoding	Benign/Likely_benign
12	112486649	C	T	C112486649T	PTPN11	NM_002834.4(PTPN11):c.1379+20C>T	coding	Benign/Likely_benign
12	112488444	G	A	G112488444A	PTPN11	NM_002834.5(PTPN11):c.1381G>A:p.Ala461Thr	coding	Pathogenic
12	112488444	G	T	G112488444T	PTPN11	NM_002834.5(PTPN11):c.1381G>T:p.Ala461Ser	coding	Pathogenic
12	112488454	G	C	G112488454C	PTPN11	NM_002834.5(PTPN11):c.1391G>C:p.Gly464Ala	coding	Pathogenic
12	112488465	A	C	A112488465C	PTPN11	NM_002834.5(PTPN11):c.1402A>C:p.Thr468Pro	coding	Pathogenic
12	112488466	C	T	C112488466T	PTPN11	NM_002834.5(PTPN11):c.1403C>T:p.Thr468Met	coding	Pathogenic
12	112488467	G	C	G112488467C	PTPN11	NM_002834.5(PTPN11):c.1404G>C:p.Thr468=	coding	Benign/Likely_benign
12	112488986	G	C	G112488986C	PTPN11	NM_002834.4(PTPN11):c.1448-38G>C	noncoding	Benign
12	112489047	C	A	C112489047A	PTPN11	NM_002834.5(PTPN11):c.1471C>A:p.Pro491Thr	coding	Pathogenic
12	112489047	C	G	C112489047G	PTPN11	NM_002834.5(PTPN11):c.1471C>G:p.Pro491Ala	coding	Pathogenic/Likely_pathogenic
12	112489047	C	T	C112489047T	PTPN11	NM_002834.5(PTPN11):c.1471C>T:p.Pro491Ser	coding	Pathogenic
12	112489048	C	A	C112489048A	PTPN11	NM_002834.5(PTPN11):c.1472C>A:p.Pro491His	coding	Pathogenic/Likely_pathogenic
12	112489048	C	T	C112489048T	PTPN11	NM_002834.5(PTPN11):c.1472C>T:p.Pro491Leu	coding	Pathogenic
12	112489068	C	T	C112489068T	PTPN11	NM_002834.5(PTPN11):c.1492C>T:p.Arg498Trp	coding	Pathogenic
12	112489069	G	T	G112489069T	PTPN11	NM_002834.5(PTPN11):c.1493G>T:p.Arg498Leu	coding	Pathogenic
12	112489078	G	A	G112489078A	PTPN11	NM_002834.5(PTPN11):c.1502G>A:p.Arg501Lys	coding	Pathogenic
12	112489080	T	A	T112489080A	PTPN11	NM_002834.5(PTPN11):c.1504T>A:p.Ser502Thr	coding	Pathogenic
12	112489080	T	G	T112489080G	PTPN11	NM_002834.5(PTPN11):c.1504T>G:p.Ser502Ala	coding	Pathogenic
12	112489081	C	T	C112489081T	PTPN11	NM_002834.5(PTPN11):c.1505C>T:p.Ser502Leu	coding	Pathogenic/Likely_pathogenic
12	112489083	G	A	G112489083A	PTPN11	NM_002834.5(PTPN11):c.1507G>A:p.Gly503Arg	coding	Pathogenic
12	112489083	G	C	G112489083C	PTPN11	NM_002834.5(PTPN11):c.1507G>C:p.Gly503Arg	coding	Pathogenic
12	112489084	G	A	G112489084A	PTPN11	NM_002834.5(PTPN11):c.1508G>A:p.Gly503Glu	coding	Pathogenic/Likely_pathogenic
12	112489084	G	C	G112489084C	PTPN11	NM_002834.4(PTPN11):c.1508G>C:p.Gly503Ala	coding	Pathogenic
12	112489086	A	G	A112489086G	PTPN11	NM_002834.5(PTPN11):c.1510A>G:p.Met504Val	coding	Pathogenic
12	112489092	C	T	C112489092T	PTPN11	NM_002834.4(PTPN11):c.1516C>T:p.Gln506Ter	coding	Pathogenic
12	112489093	A	C	A112489093C	PTPN11	NM_002834.5(PTPN11):c.1517A>C:p.Gln506Pro	coding	Pathogenic
12	112489096	C	A	C112489096A	PTPN11	NM_002834.4(PTPN11):c.1520C>A:p.Thr507Lys	coding	Pathogenic
12	112489104	C	G	C112489104G	PTPN11	NM_002834.5(PTPN11):c.1528C>G:p.Gln510Glu	coding	Pathogenic
12	112489105	A	C	A112489105C	PTPN11	NM_002834.5(PTPN11):c.1529A>C:p.Gln510Pro	coding	Pathogenic
12	112489105	A	G	A112489105G	PTPN11	NM_002834.4(PTPN11):c.1529A>G:p.Gln510Arg	coding	Pathogenic/Likely_pathogenic
12	112489106	G	C	G112489106C	PTPN11	NM_002834.4(PTPN11):c.1530G>C:p.Gln510His	coding	Pathogenic
12	112489106	G	T	G112489106T	PTPN11	NM_002834.5(PTPN11):c.1530G>T:p.Gln510His	coding	Pathogenic
12	112489201	G	A	G112489201A	PTPN11	NM_002834.4(PTPN11):c.1599+26G>A	noncoding	Benign
12	112489208	A	G	A112489208G	PTPN11	NM_002834.4(PTPN11):c.1599+33A>G	noncoding	Benign
12	112489468	C	T	C112489468T	PTPN11	NM_002834.4(PTPN11):c.1599+293C>T	noncoding	Benign
12	112502049	C	T	C112502049T	PTPN11	NM_002834.4(PTPN11):c.1600-95C>T	noncoding	Benign
12	112502164	C	T	C112502164T	PTPN11	NM_002834.5(PTPN11):c.1620C>T:p.His540=	coding	Benign/Likely_benign
12	112502194	G	A	G112502194A	PTPN11	NM_002834.5(PTPN11):c.1650G>A:p.Ala550=	coding	Benign
12	112502202	C	T	C112502202T	PTPN11	NM_002834.5(PTPN11):c.1658C>T:p.Thr553Met	coding	Benign
12	112504728	C	T	C112504728T	PTPN11	NM_002834.5(PTPN11):c.1746C>T:p.Asn582=	coding	Benign/Likely_benign
12	112504777	A	G	A112504777G	PTPN11	NM_002834.3(PTPN11):c.*13A>G	noncoding	Benign/Likely_benign
12	112506121	T	C	T112506121C	PTPN11	NM_002834.4(PTPN11):c.*329T>C	noncoding	Benign/Likely_benign
12	112506462	G	A	G112506462A	PTPN11	NM_002834.4(PTPN11):c.*670G>A	noncoding	Benign
12	112506567	G	A	G112506567A	PTPN11	NM_002834.4(PTPN11):c.*775G>A	noncoding	Benign/Likely_benign
12	112506593	C	T	C112506593T	PTPN11	NM_002834.5(PTPN11):c.*801C>T	noncoding	Benign/Likely_benign
12	112506630	G	A	G112506630A	PTPN11	NM_002834.4(PTPN11):c.*838G>A	noncoding	Benign/Likely_benign
12	112507166	G	C	G112507166C	PTPN11	NM_002834.4(PTPN11):c.*1374G>C	noncoding	Benign
12	112507328	T	C	T112507328C	PTPN11	NM_002834.4(PTPN11):c.*1536T>C	noncoding	Benign/Likely_benign
12	112507597	C	T	C112507597T	PTPN11	NM_002834.4(PTPN11):c.*1805C>T	noncoding	Benign/Likely_benign
12	112507870	G	A	G112507870A	PTPN11	NM_002834.5(PTPN11):c.*2078G>A	noncoding	Benign/Likely_benign
12	112508421	A	G	A112508421G	PTPN11	NM_002834.5(PTPN11):c.*2629A>G	noncoding	Benign/Likely_benign
12	112508719	T	A	T112508719A	PTPN11	NM_002834.4(PTPN11):c.*2927T>A	noncoding	Benign
12	112508798	G	A	G112508798A	PTPN11	NM_002834.4(PTPN11):c.*3006G>A	noncoding	Benign/Likely_benign
12	112508835	C	T	C112508835T	PTPN11	NM_002834.4(PTPN11):c.*3043C>T	noncoding	Benign/Likely_benign
12	112509173	A	G	A112509173G	PTPN11	NM_002834.4(PTPN11):c.*3381A>G	noncoding	Benign/Likely_benign
12	112868593	G	A	G112868593A	RPH3A	NM_001143854.2(RPH3A):c.608G>A:p.Arg203Gln	coding	Benign
12	112869939	C	T	C112869939T	RPH3A	NM_001143854.2(RPH3A):c.696C>T:p.Pro232=	coding	Benign
12	112870006	G	C	G112870006C	RPH3A	NM_001143854.2(RPH3A):c.763G>C:p.Gly255Arg	coding	Pathogenic
12	112876673	C	G	C112876673G	RPH3A	NM_001143854.2(RPH3A):c.978C>G:p.Ala326=	coding	Benign
12	112908626	C	G	C112908626G	OAS1	NM_016816.4(OAS1):c.271C>G:p.Gln91Glu	coding	Benign
12	112916579	G	A	G112916579A	OAS1	NM_016816.4(OAS1):c.725G>A:p.Arg242Gln	coding	Benign
12	112938675	G	A	G112938675A	OAS3	NM_006187.4(OAS3):c.145G>A:p.Ala49Thr	coding	Benign
12	112950793	G	A	G112950793A	OAS3	NM_006187.4(OAS3):c.1475G>A:p.Arg492His	coding	Benign
12	112963407	G	T	G112963407T	OAS3	NM_006187.4(OAS3):c.2179G>T:p.Ala727Ser	coding	Benign
12	112978758	G	A	G112978758A	OAS2	NM_002535.3(OAS2):c.150G>A:p.Gln50=	coding	Benign
12	113007905	C	T	C113007905T	OAS2	NM_002535.3(OAS2):c.1857C>T:p.Thr619=	coding	Benign
12	113009207	G	T	G113009207T	OAS2	NM_002535.3(OAS2):c.2016G>T:p.Gly672=	coding	Benign
12	113077467	G	T	G113077467T	DTX1	NM_004416.2(DTX1):c.303G>T:p.Ser101=	coding	Benign
12	113102008	G	A	G113102008A	RASAL1	NM_001193520.1(RASAL1):c.2109C>T:p.Ala703=	coding	Benign
12	113108102	G	A	G113108102A	RASAL1	NM_001193520.1(RASAL1):c.1498C>T:p.Leu500=	coding	Benign
12	113114889	G	A	G113114889A	RASAL1	NM_001193520.1(RASAL1):c.1092C>T:p.His364=	coding	Benign
12	113127832	G	A	G113127832A	RASAL1	NM_001193520.1(RASAL1):c.278C>T:p.Ala93Val	coding	Benign
12	113127870	G	A	G113127870A	RASAL1	NM_001193520.1(RASAL1):c.240C>T:p.His80=	coding	Benign
12	113174776	G	A	G113174776A	DDX54	NM_024072.4(DDX54):c.937-5C>T	noncoding	Benign
12	113179311	A	G	A113179311G	DDX54	NM_024072.4(DDX54):c.396T>C:p.Asp132=	coding	Benign
12	113267845	C	T	C113267845T	TPCN1	NM_017901.6(TPCN1):c.417C>T:p.Val139=	coding	Benign
12	113278816	G	A	G113278816A	TPCN1	NM_017901.6(TPCN1):c.1278G>A:p.Thr426=	coding	Benign
12	113290200	C	T	C113290200T	TPCN1	NM_017901.6(TPCN1):c.1869C>T:p.Gly623=	coding	Benign
12	113292931	C	T	C113292931T	TPCN1	NM_017901.6(TPCN1):c.2114-3C>T	noncoding	Benign
12	113293011	C	T	C113293011T	TPCN1	NM_017901.6(TPCN1):c.2191C>T:p.Arg731Trp	coding	Benign
12	113399647	T	G	T113399647G	SDS	NM_006843.3(SDS):c.62A>C:p.Lys21Thr	coding	Benign
12	114354159	C	A	C114354159A	TBX5	NM_000192.3(TBX5):c.*1373G>T	noncoding	Benign
12	114354201	A	C	A114354201C	TBX5	NM_000192.3(TBX5):c.*1331T>G	noncoding	Benign
12	114354344	A	G	A114354344G	TBX5	NM_000192.3(TBX5):c.*1188T>C	noncoding	Benign
12	114354431	T	C	T114354431C	TBX5	NM_000192.3(TBX5):c.*1101A>G	noncoding	Benign
12	114354572	T	C	T114354572C	TBX5	NM_000192.3(TBX5):c.*960A>G	noncoding	Benign
12	114354623	T	C	T114354623C	TBX5	NM_000192.3(TBX5):c.*909A>G	noncoding	Benign
12	114354720	G	A	G114354720A	TBX5	NM_000192.3(TBX5):c.*812C>T	noncoding	Benign
12	114354793	A	G	A114354793G	TBX5	NM_000192.3(TBX5):c.*739T>C	noncoding	Benign
12	114354859	G	A	G114354859A	TBX5	NM_000192.3(TBX5):c.*673C>T	noncoding	Benign
12	114354931	C	T	C114354931T	TBX5	NM_000192.3(TBX5):c.*601G>A	noncoding	Benign
12	114354969	C	T	C114354969T	TBX5	NM_000192.3(TBX5):c.*563G>A	noncoding	Benign
12	114355008	T	A	T114355008A	TBX5	NM_000192.3(TBX5):c.*524A>T	noncoding	Benign
12	114355052	C	T	C114355052T	TBX5	NM_000192.3(TBX5):c.*480G>A	noncoding	Benign
12	114355148	A	G	A114355148G	TBX5	NM_000192.3(TBX5):c.*384T>C	noncoding	Benign
12	114355226	G	A	G114355226A	TBX5	NM_000192.3(TBX5):c.*306C>T	noncoding	Benign
12	114355411	T	C	T114355411C	TBX5	NM_181486.4(TBX5):c.*121A>G	noncoding	Benign
12	114355435	C	T	C114355435T	TBX5	NM_000192.3(TBX5):c.*97G>A	noncoding	Benign
12	114355455	T	C	T114355455C	TBX5	NM_000192.3(TBX5):c.*77A>G	noncoding	Benign
12	114355492	T	C	T114355492C	TBX5	NM_000192.3(TBX5):c.*40A>G	noncoding	Benign
12	114355528	C	A	C114355528A	TBX5	NM_000192.3(TBX5):c.*4G>T	noncoding	Benign
12	114355544	G	A	G114355544A	TBX5	NM_000192.3(TBX5):c.1545C>T:p.Ser515=	coding	Benign
12	114355640	C	T	C114355640T	TBX5	NM_181486.4(TBX5):c.1449G>A:p.Gln483=	coding	Benign
12	114355776	C	T	C114355776T	TBX5	NM_000192.3(TBX5):c.1313G>A:p.Arg438Gln	coding	Benign
12	114355808	G	A	G114355808A	TBX5	NM_000192.3(TBX5):c.1281C>T:p.Ser427=	coding	Benign
12	114355820	G	C	G114355820C	TBX5	NM_000192.3(TBX5):c.1269C>G:p.Tyr423Ter	coding	Pathogenic
12	114355855	C	T	C114355855T	TBX5	NM_000192.3(TBX5):c.1234G>A:p.Val412Ile	coding	Benign/Likely_benign
12	114355868	G	C	G114355868C	TBX5	NM_000192.3(TBX5):c.1221C>G:p.Tyr407Ter	coding	Pathogenic
12	114355886	C	T	C114355886T	TBX5	NM_000192.3(TBX5):c.1203G>A:p.Trp401Ter	coding	Pathogenic
12	114355937	C	T	C114355937T	TBX5	NM_000192.3(TBX5):c.1152G>A:p.Ala384=	coding	Benign/Likely_benign
12	114355963	G	A	G114355963A	TBX5	NM_000192.3(TBX5):c.1126C>T:p.Gln376Ter	coding	Pathogenic
12	114355966	G	A	G114355966A	TBX5	NM_000192.3(TBX5):c.1123C>T:p.Arg375Trp	coding	Benign
12	114355985	G	C	G114355985C	TBX5	NM_000192.3(TBX5):c.1104C>G:p.Tyr368Ter	coding	Pathogenic
12	114356005	G	A	G114356005A	TBX5	NM_000192.3(TBX5):c.1084C>T:p.Gln362Ter	coding	Pathogenic
12	114356011	G	A	G114356011A	TBX5	NM_000192.3(TBX5):c.1078C>T:p.Gln360Ter	coding	Pathogenic
12	114356044	C	A	C114356044A	TBX5	NM_000192.3(TBX5):c.1045G>T:p.Glu349Ter	coding	Pathogenic
12	114366204	G	A	G114366204A	TBX5	NM_000192.3(TBX5):c.943C>T:p.Gln315Ter	coding	Pathogenic
12	114366214	G	C	G114366214C	TBX5	NM_000192.3(TBX5):c.933C>G:p.Tyr311Ter	coding	Pathogenic
12	114366268	A	T	A114366268T	TBX5	NM_000192.3(TBX5):c.879T>A:p.Cys293Ter	coding	Pathogenic
12	114366279	G	A	G114366279A	TBX5	NM_000192.3(TBX5):c.868C>T:p.Gln290Ter	coding	Pathogenic
12	114366302	G	A	G114366302A	TBX5	NM_000192.3(TBX5):c.845C>T:p.Ser282Phe	coding	Pathogenic
12	114366312	G	A	G114366312A	TBX5	NM_000192.3(TBX5):c.835C>T:p.Arg279Ter	coding	Pathogenic
12	114366320	C	T	C114366320T	TBX5	NM_000192.3(TBX5):c.827G>A:p.Ser276Asn	coding	Benign/Likely_benign
12	114366343	G	C	G114366343C	TBX5	NM_000192.3(TBX5):c.804C>G:p.Ala268=	coding	Benign/Likely_benign
12	114366356	C	T	C114366356T	TBX5	NM_000192.3(TBX5):c.791G>A:p.Arg264Lys	coding	Benign/Likely_benign
12	114366361	G	A	G114366361A	TBX5	NM_000192.3(TBX5):c.786C>T:p.Thr262=	coding	Benign/Likely_benign
12	114366378	C	T	C114366378T	TBX5	NM_181486.4(TBX5):c.769G>A:p.Val257Met	coding	Benign
12	114366392	C	G	C114366392G	TBX5	NM_000192.3(TBX5):c.756-1G>C	coding	Pathogenic
12	114385476	C	T	C114385476T	TBX5	NM_000192.3(TBX5):c.755G>A:p.Ser252Asn	coding	Pathogenic
12	114385521	C	G	C114385521G	TBX5	NM_000192.3(TBX5):c.710G>C:p.Arg237Pro	coding	Pathogenic
12	114385521	C	T	C114385521T	TBX5	NM_181486.4(TBX5):c.710G>A:p.Arg237Gln	coding	Pathogenic/Likely_pathogenic
12	114385522	G	A	G114385522A	TBX5	NM_000192.3(TBX5):c.709C>T:p.Arg237Trp	coding	Pathogenic
12	114385528	C	A	C114385528A	TBX5	NM_000192.3(TBX5):c.703G>T:p.Gly235Ter	coding	Pathogenic
12	114385557	A	C	A114385557C	TBX5	NM_000192.3(TBX5):c.674T>G:p.Leu225Ter	coding	Pathogenic
12	114385561	G	A	G114385561A	TBX5	NM_000192.3(TBX5):c.670C>T:p.Gln224Ter	coding	Pathogenic
12	114385563	G	A	G114385563A	TBX5	NM_000192.3(TBX5):c.668C>T:p.Thr223Met	coding	Pathogenic
12	114394705	C	A	C114394705A	TBX5	NM_000192.3(TBX5):c.663+36G>T	noncoding	Benign
12	114394707	G	A	G114394707A	TBX5	NM_000192.3(TBX5):c.663+34C>T	noncoding	Benign
12	114394740	C	T	C114394740T	TBX5	NM_181486.4(TBX5):c.663+1G>A	noncoding	Pathogenic
12	114394817	G	C	G114394817C	TBX5	NM_000192.3(TBX5):c.587C>G:p.Ser196Ter	coding	Pathogenic
12	114394817	G	T	G114394817T	TBX5	NM_000192.3(TBX5):c.587C>A:p.Ser196Ter	coding	Pathogenic
12	114394867	G	T	G114394867T	TBX5	NM_000192.3(TBX5):c.537C>A:p.Tyr179Ter	coding	Pathogenic
12	114398639	C	T	C114398639T	TBX5	NM_000192.3(TBX5):c.444G>A:p.Trp148Ter	coding	Pathogenic
12	114398640	C	T	C114398640T	TBX5	NM_000192.3(TBX5):c.443G>A:p.Trp148Ter	coding	Pathogenic
12	114398675	G	C	G114398675C	TBX5	NM_000192.3(TBX5):c.408C>G:p.Tyr136Ter	coding	Pathogenic
12	114398675	G	T	G114398675T	TBX5	NM_000192.3(TBX5):c.408C>A:p.Tyr136Ter	coding	Pathogenic
12	114398710	C	G	C114398710G	TBX5	NM_000192.3(TBX5):c.373G>C:p.Gly125Arg	coding	Pathogenic
12	114398726	T	C	T114398726C	TBX5	NM_181486.4(TBX5):c.363-6A>G	noncoding	Benign/Likely_benign
12	114399511	A	G	A114399511G	TBX5	NM_000192.3(TBX5):c.362+2T>C	noncoding	Pathogenic
12	114399521	A	G	A114399521G	TBX5	NM_000192.3(TBX5):c.354T>C:p.Asp118=	coding	Benign/Likely_benign
12	114399533	G	T	G114399533T	TBX5	NM_000192.3(TBX5):c.342C>A:p.Tyr114Ter	coding	Pathogenic
12	114399537	C	T	C114399537T	TBX5	NM_000192.3(TBX5):c.338G>A:p.Arg113Lys	coding	Pathogenic
12	114399544	C	A	C114399544A	TBX5	NM_000192.3(TBX5):c.331G>T:p.Asp111Tyr	coding	Benign/Likely_benign
12	114399557	A	G	A114399557G	TBX5	NM_000192.3(TBX5):c.318T>C:p.Ile106=	coding	Benign
12	114399559	T	C	T114399559C	TBX5	NM_000192.3(TBX5):c.316A>G:p.Ile106Val	coding	Benign/Likely_benign
12	114399566	G	A	G114399566A	TBX5	NM_000192.3(TBX5):c.309C>T:p.Leu103=	coding	Benign
12	114399580	T	A	T114399580A	TBX5	NM_000192.3(TBX5):c.295A>T:p.Lys99Ter	coding	Pathogenic
12	114399614	G	T	G114399614T	TBX5	NM_000192.3(TBX5):c.261C>A:p.Tyr87Ter	coding	Pathogenic
12	114401829	C	T	C114401829T	TBX5	NM_181486.4(TBX5):c.239G>A:p.Gly80Glu	coding	Pathogenic
12	114401830	C	T	C114401830T	TBX5	NM_000192.3(TBX5):c.238G>A:p.Gly80Arg	coding	Pathogenic
12	114401863	C	A	C114401863A	TBX5	NM_000192.3(TBX5):c.205G>T:p.Glu69Ter	coding	Pathogenic
12	114401876	C	T	C114401876T	TBX5	NM_181486.4(TBX5):c.192G>A:p.Trp64Ter	coding	Pathogenic/Likely_pathogenic
12	114401890	C	A	C114401890A	TBX5	NM_000192.3(TBX5):c.178G>T:p.Glu60Ter	coding	Pathogenic
12	114401907	A	G	A114401907G	TBX5	NM_000192.3(TBX5):c.161T>C:p.Ile54Thr	coding	Pathogenic
12	114401914	C	A	C114401914A	TBX5	NM_181486.4(TBX5):c.154G>T:p.Glu52Ter	coding	Pathogenic
12	114403754	G	T	G114403754T	TBX5	NM_000192.3(TBX5):c.145C>A:p.Gln49Lys	coding	Pathogenic
12	114403757	G	A	G114403757A	TBX5	NM_000192.3(TBX5):c.142C>T:p.Gln48Ter	coding	Pathogenic
12	114403758	G	A	G114403758A	TBX5	NM_181486.4(TBX5):c.141C>T:p.Thr47=	coding	Benign
12	114403780	G	T	G114403780T	TBX5	NM_000192.3(TBX5):c.119C>A:p.Ser40Ter	coding	Pathogenic
12	114403785	G	A	G114403785A	TBX5	NM_000192.3(TBX5):c.114C>T:p.Ser38=	coding	Benign
12	114403859	G	T	G114403859T	TBX5	NM_000192.3(TBX5):c.40C>A:p.Pro14Thr	coding	Pathogenic
12	114403883	C	T	C114403883T	TBX5	NM_181486.4(TBX5):c.16G>A:p.Glu6Lys	coding	Benign
12	114407802	G	T	G114407802T	TBX5	NM_000192.3(TBX5):c.-39+12C>A	noncoding	Benign
12	114407942	C	T	C114407942T	TBX5	NM_000192.3(TBX5):c.-167G>A	noncoding	Benign
12	114408080	G	T	G114408080T	TBX5	NM_000192.3(TBX5):c.-305C>A	noncoding	Benign
12	114408152	G	A	G114408152A	TBX5	NM_000192.3(TBX5):c.-377C>T	noncoding	Benign
12	114408224	C	G	C114408224G	TBX5	NM_000192.3(TBX5):c.-449G>C	noncoding	Benign
12	114408320	G	A	G114408320A	TBX5	NM_000192.3(TBX5):c.-545C>T	noncoding	Benign
12	114408361	G	C	G114408361C	TBX5	NM_000192.3(TBX5):c.-586C>G	noncoding	Benign
12	114408423	G	C	G114408423C	TBX5	NM_000192.3(TBX5):c.-648C>G	noncoding	Benign
12	114408439	C	T	C114408439T	TBX5	NM_000192.3(TBX5):c.-664G>A	noncoding	Benign
12	114670331	T	C	T114670331C	TBX3	NM_005996.4(TBX3):c.*1510A>G	noncoding	Benign
12	114670501	C	T	C114670501T	TBX3	NM_005996.4(TBX3):c.*1340G>A	noncoding	Benign
12	114670529	A	G	A114670529G	TBX3	NM_005996.4(TBX3):c.*1312T>C	noncoding	Benign
12	114670556	T	C	T114670556C	TBX3	NM_005996.4(TBX3):c.*1285A>G	noncoding	Benign
12	114670577	G	C	G114670577C	TBX3	NM_005996.4(TBX3):c.*1264C>G	noncoding	Benign
12	114670617	A	G	A114670617G	TBX3	NM_005996.4(TBX3):c.*1224T>C	noncoding	Benign
12	114671094	C	T	C114671094T	TBX3	NM_005996.4(TBX3):c.*747G>A	noncoding	Benign
12	114671102	T	C	T114671102C	TBX3	NM_005996.4(TBX3):c.*739A>G	noncoding	Benign
12	114671270	G	C	G114671270C	TBX3	NM_005996.4(TBX3):c.*571C>G	noncoding	Benign
12	114671418	C	G	C114671418G	TBX3	NM_005996.4(TBX3):c.*423G>C	noncoding	Benign
12	114671444	T	G	T114671444G	TBX3	NM_005996.4(TBX3):c.*397A>C	noncoding	Benign
12	114671475	T	A	T114671475A	TBX3	NM_005996.4(TBX3):c.*366A>T	noncoding	Benign
12	114671596	G	A	G114671596A	TBX3	NM_005996.4(TBX3):c.*245C>T	noncoding	Benign
12	114671709	C	T	C114671709T	TBX3	NM_005996.4(TBX3):c.*132G>A	noncoding	Benign
12	114671816	A	T	A114671816T	TBX3	NM_005996.4(TBX3):c.*25T>A	noncoding	Benign
12	114671829	T	A	T114671829A	TBX3	NM_005996.4(TBX3):c.*12A>T	noncoding	Benign
12	114671931	T	C	T114671931C	TBX3	NM_005996.4(TBX3):c.2082A>G:p.Lys694=	coding	Benign
12	114672042	C	T	C114672042T	TBX3	NM_005996.4(TBX3):c.1971G>A:p.Leu657=	coding	Benign
12	114672114	G	A	G114672114A	TBX3	NM_005996.4(TBX3):c.1899C>T:p.Ser633=	coding	Benign
12	114672230	A	C	A114672230C	TBX3	NM_005996.4(TBX3):c.1783T>G:p.Ser595Ala	coding	Benign
12	114672245	C	T	C114672245T	TBX3	NM_005996.4(TBX3):c.1768G>A:p.Ala590Thr	coding	Benign
12	114674204	G	C	G114674204C	TBX3	NM_005996.4(TBX3):c.1671C>G:p.Thr557=	coding	Benign/Likely_benign
12	114674222	G	A	G114674222A	TBX3	NM_005996.4(TBX3):c.1653C>T:p.Ser551=	coding	Benign
12	114674250	G	A	G114674250A	TBX3	NM_005996.4(TBX3):c.1625C>T:p.Ala542Val	coding	Benign
12	114674348	G	T	G114674348T	TBX3	NM_005996.4(TBX3):c.1527C>A:p.Gly509=	coding	Benign
12	114674452	G	A	G114674452A	TBX3	NM_005996.4(TBX3):c.1423C>T:p.Gln475Ter	coding	Pathogenic
12	114674639	C	A	C114674639A	TBX3	NM_005996.4(TBX3):c.1236G>T:p.Ser412=	coding	Benign
12	114674702	C	G	C114674702G	TBX3	NM_005996.4(TBX3):c.1173G>C:p.Ala391=	coding	Benign
12	114674749	A	T	A114674749T	TBX3	NM_005996.4(TBX3):c.1126T>A:p.Ser376Thr	coding	Benign
12	114674774	G	C	G114674774C	TBX3	NM_005996.4(TBX3):c.1101C>G:p.Pro367=	coding	Benign
12	114674780	A	G	A114674780G	TBX3	NM_005996.4(TBX3):c.1095T>C:p.His365=	coding	Benign/Likely_benign
12	114674781	T	C	T114674781C	TBX3	NM_005996.4(TBX3):c.1094A>G:p.His365Arg	coding	Benign
12	114676341	G	A	G114676341A	TBX3	NM_005996.4(TBX3):c.1011C>T:p.Ala337=	coding	Benign
12	114676361	G	A	G114676361A	TBX3	NM_005996.4(TBX3):c.991C>T:p.Gln331Ter	coding	Pathogenic
12	114677644	T	A	T114677644A	TBX3	NM_005996.4(TBX3):c.817A>T:p.Lys273Ter	coding	Pathogenic
12	114679532	G	A	G114679532A	TBX3	NM_005996.4(TBX3):c.777C>T:p.Ile259=	coding	Benign
12	114679609	T	C	T114679609C	TBX3	NM_005996.4(TBX3):c.700A>G:p.Ile234Val	coding	Benign
12	114680878	C	G	C114680878G	TBX3	NM_005996.4(TBX3):c.657+1G>C	noncoding	Pathogenic
12	114680917	G	A	G114680917A	TBX3	NM_005996.4(TBX3):c.619C>T:p.Leu207=	coding	Benign
12	114682892	G	A	G114682892A	TBX3	NM_005996.4(TBX3):c.309C>T:p.Pro103=	coding	Benign
12	114683030	C	T	C114683030T	TBX3	NM_005996.4(TBX3):c.171G>A:p.Pro57=	coding	Benign
12	114683075	G	A	G114683075A	TBX3	NM_005996.4(TBX3):c.126C>T:p.Pro42=	coding	Benign
12	114683140	G	A	G114683140A	TBX3	NM_005996.4(TBX3):c.61C>T:p.Leu21=	coding	Benign
12	114683229	C	A	C114683229A	TBX3	NM_005996.4(TBX3):c.-29G>T	noncoding	Benign
12	114683384	G	A	G114683384A	TBX3	NM_005996.4(TBX3):c.-184C>T	noncoding	Benign
12	114683398	A	G	A114683398G	TBX3	NM_005996.4(TBX3):c.-198T>C	noncoding	Benign
12	114683451	C	T	C114683451T	TBX3	NM_005996.4(TBX3):c.-251G>A	noncoding	Benign
12	114683531	A	G	A114683531G	TBX3	NM_005996.4(TBX3):c.-331T>C	noncoding	Benign
12	114683566	C	A	C114683566A	TBX3	NM_005996.4(TBX3):c.-366G>T	noncoding	Benign
12	114683617	A	C	A114683617C	TBX3	NM_005996.4(TBX3):c.-417T>G	noncoding	Benign
12	114683927	A	G	A114683927G	TBX3	NM_005996.4(TBX3):c.-727T>C	noncoding	Benign
12	114684109	G	A	G114684109A	TBX3	NM_005996.4(TBX3):c.-909C>T	noncoding	Benign
12	115963419	G	A	G115963419A	MED13L	NM_015335.4(MED13L):c.6488C>T:p.Ser2163Leu	coding	Pathogenic/Likely_pathogenic
12	115963422	G	A	G115963422A	MED13L	NM_015335.4(MED13L):c.6485C>T:p.Thr2162Met	coding	Pathogenic
12	115963489	G	A	G115963489A	MED13L	NM_015335.4(MED13L):c.6418C>T:p.Gln2140Ter	coding	Pathogenic
12	115963521	T	C	T115963521C	MED13L	NM_015335.5(MED13L):c.6388-2A>G	noncoding	Pathogenic
12	115966102	G	A	G115966102A	MED13L	NM_015335.5(MED13L):c.6367C>T:p.Gln2123Ter	coding	Pathogenic
12	115966133	C	T	C115966133T	MED13L	NM_015335.4(MED13L):c.6336G>A:p.Trp2112Ter	coding	Pathogenic
12	115966138	G	A	G115966138A	MED13L	NM_015335.4(MED13L):c.6331C>T:p.Gln2111Ter	coding	Pathogenic
12	115966189	G	T	G115966189T	MED13L	NM_015335.4(MED13L):c.6280C>A:p.Pro2094Thr	coding	Pathogenic
12	115966244	C	G	C115966244G	MED13L	NM_015335.5(MED13L):c.6226-1G>C	coding	Pathogenic
12	115969097	T	C	T115969097C	MED13L	NM_015335.4(MED13L):c.6068A>G:p.Asp2023Gly	coding	Pathogenic
12	115969105	G	A	G115969105A	MED13L	NM_015335.4(MED13L):c.6068-8C>T	noncoding	Benign
12	115970706	G	A	G115970706A	MED13L	NM_015335.4(MED13L):c.5955C>T:p.Leu1985=	coding	Benign/Likely_benign
12	115972102	G	A	G115972102A	MED13L	NM_015335.4(MED13L):c.5866C>T:p.Gln1956Ter	coding	Pathogenic
12	115975204	G	A	G115975204A	MED13L	NM_015335.5(MED13L):c.5698C>T:p.Arg1900Ter	coding	Pathogenic
12	115975314	C	T	C115975314T	MED13L	NM_015335.4(MED13L):c.5589-1G>A	coding	Pathogenic
12	115975514	C	T	C115975514T	MED13L	NM_015335.4(MED13L):c.5588+1G>A	noncoding	Pathogenic
12	115975541	G	T	G115975541T	MED13L	NM_015335.5(MED13L):c.5562C>A:p.Cys1854Ter	coding	Pathogenic
12	115975739	C	T	C115975739T	MED13L	NM_015335.5(MED13L):c.5365-1G>A	coding	Pathogenic
12	115980836	G	A	G115980836A	MED13L	NM_015335.4(MED13L):c.5278C>T:p.Arg1760Ter	coding	Pathogenic
12	115982386	G	A	G115982386A	MED13L	NM_015335.4(MED13L):c.5173C>T:p.Gln1725Ter	coding	Pathogenic
12	115982605	T	G	T115982605G	MED13L	NM_015335.4(MED13L):c.4956-2A>C	noncoding	Pathogenic
12	115983258	G	C	G115983258C	MED13L	NM_015335.5(MED13L):c.4814C>G:p.Ser1605Ter	coding	Pathogenic
12	115983305	C	T	C115983305T	MED13L	NM_015335.4(MED13L):c.4767G>A:p.Ser1589=	coding	Benign
12	115983314	C	T	C115983314T	MED13L	NM_015335.4(MED13L):c.4758G>A:p.Pro1586=	coding	Benign
12	115983328	A	T	A115983328T	MED13L	NM_015335.4(MED13L):c.4744T>A:p.Ser1582Thr	coding	Benign/Likely_benign
12	115983463	G	A	G115983463A	MED13L	NM_015335.4(MED13L):c.4609C>T:p.Gln1537Ter	coding	Pathogenic
12	115983479	G	A	G115983479A	MED13L	NM_015335.4(MED13L):c.4593C>T:p.Thr1531=	coding	Benign
12	115984244	G	A	G115984244A	MED13L	NM_015335.4(MED13L):c.4467C>T:p.Ser1489=	coding	Benign/Likely_benign
12	115986481	C	A	C115986481A	MED13L	NM_015335.5(MED13L):c.4123G>T:p.Glu1375Ter	coding	Pathogenic
12	115987146	C	T	C115987146T	MED13L	NM_015335.4(MED13L):c.4077G>A:p.Trp1359Ter	coding	Pathogenic
12	115987147	C	T	C115987147T	MED13L	NM_015335.5(MED13L):c.4076G>A:p.Trp1359Ter	coding	Pathogenic
12	115987163	G	A	G115987163A	MED13L	NM_015335.4(MED13L):c.4060C>T:p.Gln1354Ter	coding	Pathogenic
12	115987172	G	A	G115987172A	MED13L	NM_015335.4(MED13L):c.4051C>T:p.Gln1351Ter	coding	Pathogenic
12	115991196	G	A	G115991196A	MED13L	NM_015335.4(MED13L):c.3758C>T:p.Thr1253Ile	coding	Benign
12	115991442	T	C	T115991442C	MED13L	NM_015335.4(MED13L):c.3512A>G:p.Lys1171Arg	coding	Benign/Likely_benign
12	115991485	G	A	G115991485A	MED13L	NM_015335.4(MED13L):c.3469C>T:p.Gln1157Ter	coding	Pathogenic
12	115991504	G	A	G115991504A	MED13L	NM_015335.4(MED13L):c.3450C>T:p.Pro1150=	coding	Benign
12	115991885	C	T	C115991885T	MED13L	NM_015335.4(MED13L):c.3069G>A:p.Thr1023=	coding	Benign
12	115997022	G	A	G115997022A	MED13L	NM_015335.4(MED13L):c.2778C>T:p.Pro926=	coding	Benign
12	115997210	T	A	T115997210A	MED13L	NM_015335.4(MED13L):c.2590A>T:p.Met864Leu	coding	Pathogenic
12	116003048	G	A	G116003048A	MED13L	NM_015335.4(MED13L):c.2524C>T:p.Arg842Ter	coding	Pathogenic
12	116006413	T	C	T116006413C	MED13L	NM_015335.4(MED13L):c.2239-2A>G	noncoding	Pathogenic
12	116007542	G	A	G116007542A	MED13L	NM_015335.4(MED13L):c.2107C>T:p.Gln703Ter	coding	Pathogenic
12	116007590	G	A	G116007590A	MED13L	NM_015335.4(MED13L):c.2059C>T:p.Gln687Ter	coding	Pathogenic
12	116007593	T	G	T116007593G	MED13L	NM_015335.4(MED13L):c.2056A>C:p.Lys686Gln	coding	Benign
12	116008550	A	G	A116008550G	MED13L	NM_015335.4(MED13L):c.1863T>C:p.Ile621=	coding	Benign
12	116008688	C	T	C116008688T	MED13L	NM_015335.4(MED13L):c.1725G>A:p.Ser575=	coding	Benign
12	116008723	G	A	G116008723A	MED13L	NM_015335.4(MED13L):c.1690C>T:p.Arg564Ter	coding	Pathogenic
12	116008823	G	A	G116008823A	MED13L	NM_015335.4(MED13L):c.1590C>T:p.Ala530=	coding	Benign
12	116008993	C	A	C116008993A	MED13L	NM_015335.5(MED13L):c.1420G>T:p.Glu474Ter	coding	Pathogenic
12	116009052	G	C	G116009052C	MED13L	NM_015335.4(MED13L):c.1361C>G:p.Ser454Ter	coding	Pathogenic
12	116009077	G	A	G116009077A	MED13L	NM_015335.4(MED13L):c.1336C>T:p.Gln446Ter	coding	Pathogenic
12	116009130	T	C	T116009130C	MED13L	NM_015335.4(MED13L):c.1283A>G:p.His428Arg	coding	Benign/Likely_benign
12	116012862	A	C	A116012862C	MED13L	NM_015335.4(MED13L):c.1215T>G:p.Pro405=	coding	Benign
12	116015149	G	A	G116015149A	MED13L	NM_015335.5(MED13L):c.1135C>T:p.Arg379Ter	coding	Pathogenic
12	116015189	C	T	C116015189T	MED13L	NM_015335.4(MED13L):c.1095G>A:p.Ser365=	coding	Benign
12	116019225	T	G	T116019225G	MED13L	NM_015335.4(MED13L):c.1008A>C:p.Leu336=	coding	Benign
12	116019285	C	T	C116019285T	MED13L	NM_015335.4(MED13L):c.948G>A:p.Lys316=	coding	Benign
12	116019827	G	A	G116019827A	MED13L	NM_015335.4(MED13L):c.771C>T:p.Asp257=	coding	Benign
12	116019886	C	A	C116019886A	MED13L	NM_015335.5(MED13L):c.712G>T:p.Glu238Ter	coding	Pathogenic
12	116019974	T	C	T116019974C	MED13L	NM_015335.4(MED13L):c.626-2A>G	noncoding	Pathogenic
12	116022480	G	A	G116022480A	MED13L	NM_015335.4(MED13L):c.601C>T:p.Gln201Ter	coding	Pathogenic
12	116022502	A	G	A116022502G	MED13L	NM_015335.4(MED13L):c.579T>C:p.Asn193=	coding	Benign
12	116022602	C	A	C116022602A	MED13L	NM_015335.4(MED13L):c.480-1G>T	coding	Pathogenic
12	116096706	G	A	G116096706A	MED13L	NM_015335.5(MED13L):c.442C>T:p.Arg148Ter	coding	Pathogenic
12	116237515	C	T	C116237515T	MED13L	NM_015335.4(MED13L):c.263G>A:p.Trp88Ter	coding	Pathogenic
12	116237605	A	T	A116237605T	MED13L	NM_015335.5(MED13L):c.173T>A:p.Leu58Ter	coding	Pathogenic
12	116237706	C	T	C116237706T	MED13L	NM_015335.4(MED13L):c.73-1G>A	coding	Pathogenic
12	116277092	G	A	G116277092A	MED13L	NM_015335.4(MED13L):c.40C>T:p.Leu14=	coding	Benign
12	116277131	T	C	T116277131C	MED13L	NM_015335.4(MED13L):c.1A>G:p.Met1Val	coding	Pathogenic
12	116723068	G	A	G116723068A	SPRING1	NM_024738.4(SPRING1):c.267C>T:p.Leu89=	coding	Benign
12	116911259	C	T	C116911259T	FBXW8	NM_153348.3(FBXW8):c.222C>T:p.Ala74=	coding	Benign
12	116949614	G	A	G116949614A	FBXW8	NM_153348.3(FBXW8):c.589-4G>A	noncoding	Benign
12	116949660	A	G	A116949660G	FBXW8	NM_153348.3(FBXW8):c.631A>G:p.Thr211Ala	coding	Benign
12	116985400	C	T	C116985400T	FBXW8	NM_153348.3(FBXW8):c.1030C>T:p.Leu344=	coding	Benign
12	117027419	A	G	A117027419G	FBXW8	NM_153348.3(FBXW8):c.1567A>G:p.Ser523Gly	coding	Benign
12	117027459	C	T	C117027459T	FBXW8	NM_153348.3(FBXW8):c.1607C>T:p.Thr536Met	coding	Benign
12	117039169	G	A	G117039169A	TESC	NM_017899.4(TESC):c.609C>T:p.Arg203=	coding	Benign
12	117039175	G	A	G117039175A	TESC	NM_017899.4(TESC):c.603C>T:p.His201=	coding	Benign
12	117046576	C	T	C117046576T	TESC	NM_017899.4(TESC):c.502G>A:p.Val168Met	coding	Benign
12	117046631	G	A	G117046631A	TESC	NM_017899.4(TESC):c.447C>T:p.Ile149=	coding	Benign
12	117046847	G	T	G117046847T	TESC	NM_017899.4(TESC):c.350-9C>A	noncoding	Benign
12	117049071	G	A	G117049071A	TESC	NM_017899.4(TESC):c.297C>T:p.Asp99=	coding	Benign
12	117190313	C	G	C117190313G	FBXO21	NM_015002.3(FBXO21):c.144G>C:p.Thr48=	coding	Benign
12	117227525	C	T	C117227525T	NOS1	NM_000620.5(NOS1):c.3522G>A:p.Leu1174=	coding	Benign
12	117227594	G	A	G117227594A	NOS1	NM_000620.5(NOS1):c.3453C>T:p.Ile1151=	coding	Benign
12	117234623	C	T	C117234623T	NOS1	NM_000620.5(NOS1):c.3177G>A:p.Ala1059=	coding	Benign
12	117234734	G	C	G117234734C	NOS1	NM_000620.5(NOS1):c.3066C>G:p.Leu1022=	coding	Benign
12	117234764	G	A	G117234764A	NOS1	NM_000620.5(NOS1):c.3042-6C>T	noncoding	Benign
12	117247450	G	A	G117247450A	NOS1	NM_000620.5(NOS1):c.2721C>T:p.Leu907=	coding	Benign
12	117253680	A	G	A117253680G	NOS1	NM_000620.5(NOS1):c.2606T>C:p.Leu869Pro	coding	Benign
12	117263938	T	C	T117263938C	NOS1	NM_000620.5(NOS1):c.2173A>G:p.Asn725Asp	coding	Benign
12	117272441	C	T	C117272441T	NOS1	NM_000620.5(NOS1):c.1783G>A:p.Gly595Ser	coding	Benign
12	117280788	G	A	G117280788A	NOS1	NM_000620.5(NOS1):c.1461C>T:p.Tyr487=	coding	Benign
12	117311553	G	A	G117311553A	NOS1	NM_000620.5(NOS1):c.765C>T:p.Gly255=	coding	Benign
12	117330612	G	A	G117330612A	NOS1	NM_000620.5(NOS1):c.458C>T:p.Ser153Leu	coding	Benign
12	117330650	C	T	C117330650T	NOS1	NM_000620.5(NOS1):c.420G>A:p.Pro140=	coding	Benign
12	117330797	G	A	G117330797A	NOS1	NM_000620.5(NOS1):c.273C>T:p.Thr91=	coding	Benign
12	117469751	A	G	A117469751G	KSR2	NM_173598.6(KSR2):c.2757T>C:p.Pro919=	coding	Benign
12	117476598	G	A	G117476598A	KSR2	NM_173598.6(KSR2):c.2451-3C>T	noncoding	Benign
12	117485664	G	A	G117485664A	KSR2	NM_173598.6(KSR2):c.2247C>T:p.Ser749=	coding	Benign
12	117525067	G	A	G117525067A	KSR2	NM_173598.6(KSR2):c.2004C>T:p.Ile668=	coding	Benign
12	117525228	G	A	G117525228A	KSR2	NM_173598.6(KSR2):c.1852-9C>T	noncoding	Benign
12	117539745	C	T	C117539745T	KSR2	NM_173598.6(KSR2):c.1661G>A:p.Arg554Gln	coding	Benign
12	117539783	C	T	C117539783T	KSR2	NM_173598.6(KSR2):c.1623G>A:p.Thr541=	coding	Benign
12	117539801	G	C	G117539801C	KSR2	NM_173598.6(KSR2):c.1605C>G:p.Pro535=	coding	Benign
12	117582313	A	G	A117582313G	KSR2	NM_173598.6(KSR2):c.1218T>C:p.Asp406=	coding	Benign
12	117582369	G	A	G117582369A	KSR2	NM_173598.6(KSR2):c.1172-10C>T	noncoding	Benign
12	118036433	G	A	G118036433A	WSB2	NM_001278557.1(WSB2):c.789C>T:p.Asp263=	coding	Benign
12	118042916	T	C	T118042916C	WSB2	NM_001278557.1(WSB2):c.535A>G:p.Thr179Ala	coding	Benign
12	118062151	G	A	G118062151A	WSB2	NM_001278557.1(WSB2):c.12C>T:p.Asp4=	coding	Benign
12	118139489	A	G	A118139489G	PEBP1	NM_002567.4(PEBP1):c.284A>G:p.Asn95Ser	coding	Benign
12	118144672	C	T	C118144672T	PEBP1	NM_002567.4(PEBP1):c.433C>T:p.His145Tyr	coding	Benign
12	118152332	G	A	G118152332A	TAOK3	NM_016281.4(TAOK3):c.2430C>T:p.Asn810=	coding	Benign
12	118243493	T	C	T118243493C	TAOK3	NM_016281.4(TAOK3):c.216A>G:p.Glu72=	coding	Benign
12	118414397	C	T	C118414397T	SUDS3	NM_022491.3(SUDS3):c.951C>T:p.Arg317=	coding	Benign
12	119178856	A	G	A119178856G	HSPB8	NM_014365.2(HSPB8):c.-457A>G	noncoding	Benign
12	119179120	T	C	T119179120C	HSPB8	NM_014365.2(HSPB8):c.-193T>C	noncoding	Benign
12	119179360	G	A	G119179360A	HSPB8	NM_014365.2(HSPB8):c.48G>A:p.Leu16=	coding	Benign/Likely_benign
12	119179483	C	T	C119179483T	HSPB8	NM_014365.3(HSPB8):c.171C>T:p.Ser57=	coding	Benign
12	119186919	T	C	T119186919C	HSPB8	NM_014365.2(HSPB8):c.368-106T>C	noncoding	Benign
12	119187059	T	C	T119187059C	HSPB8	NM_014365.2(HSPB8):c.402T>C:p.Ile134=	coding	Benign
12	119187078	A	G	A119187078G	HSPB8	NM_014365.2(HSPB8):c.421A>G:p.Lys141Glu	coding	Pathogenic
12	119187079	A	T	A119187079T	HSPB8	NM_014365.2(HSPB8):c.422A>T:p.Lys141Met	coding	Pathogenic
12	119187080	G	C	G119187080C	HSPB8	NM_014365.2(HSPB8):c.423G>C:p.Lys141Asn	coding	Pathogenic
12	119187243	A	G	A119187243G	HSPB8	NM_014365.2(HSPB8):c.431+155A>G	noncoding	Benign
12	119187308	C	T	C119187308T	HSPB8	NM_014365.2(HSPB8):c.431+220C>T	noncoding	Benign
12	119193683	C	T	C119193683T	HSPB8	NM_014365.2(HSPB8):c.432-16C>T	noncoding	Benign/Likely_benign
12	119193802	G	C	G119193802C	HSPB8	NM_014365.2(HSPB8):c.535G>C:p.Glu179Gln	coding	Benign
12	119193819	C	T	C119193819T	HSPB8	NM_014365.2(HSPB8):c.552C>T:p.Asn184=	coding	Benign
12	119193849	C	T	C119193849T	HSPB8	NM_014365.2(HSPB8):c.582C>T:p.Thr194=	coding	Benign
12	119194298	C	G	C119194298G	HSPB8	NM_014365.2(HSPB8):c.*440C>G	noncoding	Benign
12	119194439	G	A	G119194439A	HSPB8	NM_014365.2(HSPB8):c.*581G>A	noncoding	Benign
12	119194474	C	G	C119194474G	HSPB8	NM_014365.2(HSPB8):c.*616C>G	noncoding	Benign
12	119194474	C	T	C119194474T	HSPB8	NM_014365.2(HSPB8):c.*616C>T	noncoding	Benign
12	119194502	A	G	A119194502G	HSPB8	NM_014365.2(HSPB8):c.*644A>G	noncoding	Benign
12	119194542	G	A	G119194542A	HSPB8	NM_014365.2(HSPB8):c.*684G>A	noncoding	Benign
12	119672396	G	A	G119672396A	PRKAB1	NM_006253.5(PRKAB1):c.255G>A:p.Thr85=	coding	Benign
12	119688253	G	C	G119688253C	CIT	NM_001206999.2(CIT):c.6189C>G:p.Val2063=	coding	Benign
12	119690277	T	C	T119690277C	CIT	NM_001206999.2(CIT):c.6060A>G:p.Arg2020=	coding	Benign
12	119690382	C	A	C119690382A	CIT	NM_001206999.2(CIT):c.5955G>T:p.Pro1985=	coding	Benign
12	119697673	C	T	C119697673T	CIT	NM_001206999.2(CIT):c.5868G>A:p.Pro1956=	coding	Benign
12	119697709	G	A	G119697709A	CIT	NM_001206999.2(CIT):c.5832C>T:p.Leu1944=	coding	Benign
12	119700736	C	T	C119700736T	CIT	NM_001206999.2(CIT):c.5623+9G>A	noncoding	Benign
12	119708223	T	C	T119708223C	CIT	NM_001206999.2(CIT):c.5167A>G:p.Ile1723Val	coding	Benign
12	119708278	C	T	C119708278T	CIT	NM_001206999.2(CIT):c.5112G>A:p.Val1704=	coding	Benign
12	119708324	C	A	C119708324A	CIT	NM_001206999.2(CIT):c.5072-6G>T	noncoding	Benign
12	119714279	G	A	G119714279A	CIT	NM_001206999.2(CIT):c.4224C>T:p.Asn1408=	coding	Benign
12	119718298	A	G	A119718298G	CIT	NM_001206999.2(CIT):c.4115T>C:p.Met1372Thr	coding	Benign
12	119718325	C	T	C119718325T	CIT	NM_001206999.2(CIT):c.4088G>A:p.Arg1363Gln	coding	Benign
12	119718345	G	A	G119718345A	CIT	NM_001206999.2(CIT):c.4068C>T:p.Ile1356=	coding	Benign
12	119718360	G	A	G119718360A	CIT	NM_001206999.2(CIT):c.4053C>T:p.Thr1351=	coding	Benign
12	119730552	G	A	G119730552A	CIT	NM_001206999.2(CIT):c.3429C>T:p.Leu1143=	coding	Benign
12	119734337	G	T	G119734337T	CIT	NM_001206999.2(CIT):c.3177C>A:p.Thr1059=	coding	Benign
12	119735310	G	A	G119735310A	CIT	NM_001206999.2(CIT):c.3006C>T:p.Asn1002=	coding	Benign
12	119752107	C	T	C119752107T	CIT	NM_001206999.2(CIT):c.2847G>A:p.Ala949=	coding	Benign
12	119752254	C	G	C119752254G	CIT	NM_001206999.2(CIT):c.2707-7G>C	noncoding	Benign
12	119767135	T	C	T119767135C	CIT	NM_001206999.2(CIT):c.2256A>G:p.Leu752=	coding	Benign
12	119770806	C	T	C119770806T	CIT	NM_001206999.2(CIT):c.2187G>A:p.Gln729=	coding	Benign
12	119770875	T	C	T119770875C	CIT	NM_001206999.2(CIT):c.2118A>G:p.Arg706=	coding	Benign
12	119776369	T	C	T119776369C	CIT	NM_001206999.2(CIT):c.1876A>G:p.Lys626Glu	coding	Benign
12	119782560	A	G	A119782560G	CIT	NM_001206999.2(CIT):c.1623T>C:p.Asp541=	coding	Benign
12	119785070	G	A	G119785070A	CIT	NM_001206999.2(CIT):c.1296-5C>T	noncoding	Benign
12	119822819	C	T	C119822819T	CIT	NM_001206999.2(CIT):c.1111+1G>A	noncoding	Pathogenic
12	119832768	T	A	T119832768A	CIT	NM_001206999.2(CIT):c.753+3A>T	noncoding	Pathogenic
12	119832835	T	A	T119832835A	CIT	NM_001206999.2(CIT):c.689A>T:p.Asp230Val	coding	Pathogenic
12	119834087	G	A	G119834087A	CIT	NM_001206999.2(CIT):c.658C>T:p.Arg220Ter	coding	Pathogenic
12	119834094	G	A	G119834094A	CIT	NM_001206999.2(CIT):c.651C>T:p.Tyr217=	coding	Benign
12	119850217	G	C	G119850217C	CIT	NM_001206999.2(CIT):c.473C>G:p.Pro158Arg	coding	Pathogenic
12	119850238	C	T	C119850238T	CIT	NM_001206999.2(CIT):c.452G>A:p.Arg151Gln	coding	Benign
12	119857525	G	A	G119857525A	CIT	NM_001206999.2(CIT):c.412C>T:p.Gln138Ter	coding	Pathogenic
12	119857561	T	G	T119857561G	CIT	NM_001206999.2(CIT):c.376A>C:p.Lys126Gln	coding	Pathogenic
12	119857620	C	A	C119857620A	CIT	NM_001206999.2(CIT):c.317G>T:p.Gly106Val	coding	Pathogenic
12	119869082	G	A	G119869082A	CIT	NM_001206999.2(CIT):c.216C>T:p.His72=	coding	Benign
12	119876143	C	T	C119876143T	CIT	NM_001206999.2(CIT):c.26G>A:p.Arg9Gln	coding	Benign
12	120137596	G	A	G120137596A	GCN1	NM_006836.2(GCN1):c.6612C>T:p.Ser2204=	coding	Benign
12	120138423	G	C	G120138423C	GCN1	NM_006836.2(GCN1):c.6157-8C>G	noncoding	Benign
12	120138833	G	A	G120138833A	GCN1	NM_006836.2(GCN1):c.6018C>T:p.Leu2006=	coding	Benign
12	120142519	T	C	T120142519C	GCN1	NM_006836.2(GCN1):c.5817A>G:p.Ala1939=	coding	Benign
12	120158533	C	T	C120158533T	GCN1	NM_006836.2(GCN1):c.2832G>A:p.Ser944=	coding	Benign
12	120161480	G	A	G120161480A	GCN1	NM_006836.2(GCN1):c.2436+10C>T	noncoding	Benign
12	120162841	C	T	C120162841T	GCN1	NM_006836.2(GCN1):c.2163+6G>A	noncoding	Benign
12	120178643	G	A	G120178643A	GCN1	NM_006836.2(GCN1):c.642C>T:p.Asp214=	coding	Benign
12	120178894	G	A	G120178894A	GCN1	NM_006836.2(GCN1):c.483C>T:p.Ala161=	coding	Benign
12	120184225	C	T	C120184225T	GCN1	NM_006836.2(GCN1):c.204G>A:p.Arg68=	coding	Benign
12	120199160	C	T	C120199160T	RPLP0	NM_001002.4(RPLP0):c.276G>A:p.Lys92=	coding	Benign
12	120212569	C	T	C120212569T	PXN	NM_001080855.3(PXN):c.1521G>A:p.Thr507=	coding	Benign
12	120214855	G	A	G120214855A	PXN	NM_001080855.3(PXN):c.1248C>T:p.Arg416=	coding	Benign
12	120215008	A	C	A120215008C	PXN	NM_001080855.3(PXN):c.1105-10T>G	noncoding	Benign
12	120215095	C	T	C120215095T	PXN	NM_001080855.3(PXN):c.1104+8G>A	noncoding	Benign
12	120224274	T	C	T120224274C	PXN	NM_001080855.3(PXN):c.117A>G:p.Thr39=	coding	Benign
12	120303865	C	T	C120303865T	SIRT4	NM_012240.2(SIRT4):c.304C>T:p.Arg102Cys	coding	Benign
12	120312943	A	T	A120312943T	SIRT4	NM_012240.2(SIRT4):c.852A>T:p.Ile284=	coding	Benign
12	120322275	C	T	C120322275T	PLA2G1B	NM_000928.3(PLA2G1B):c.365G>A:p.Arg122His	coding	Benign
12	120368059	C	G	C120368059G	MSI1	NM_002442.4(MSI1):c.216G>C:p.Ala72=	coding	Benign
12	120438262	A	C	A120438262C	COX6A1	NM_004373.4(COX6A1):c.103+33A>C	noncoding	Benign
12	120438673	T	A	T120438673A	COX6A1	NM_004373.4(COX6A1):c.246+152T>A	noncoding	Benign
12	120446808	T	G	T120446808G	GATC	NM_176818.3(GATC):c.233T>G:p.Met78Arg	coding	Pathogenic
12	120465781	T	C	T120465781C	SRSF9	NM_003769.3(SRSF9):c.195A>G:p.Ala65=	coding	Benign
12	120503982	C	T	C120503982T	COQ5	NM_032314.4(COQ5):c.870G>A:p.Arg290=	coding	Benign
12	120510130	G	C	G120510130C	COQ5	NM_032314.4(COQ5):c.575-7C>G	noncoding	Benign
12	120562975	G	A	G120562975A	RNF10	NM_014868.5(RNF10):c.1159G>A:p.Gly387Arg	coding	Benign
12	120727115	C	T	C120727115T	ACADS	NM_000017.4(ACADS):c.136C>T:p.Arg46Trp	coding	Pathogenic/Likely_pathogenic
12	120727143	C	T	C120727143T	ACADS	NM_000017.4(ACADS):c.164C>T:p.Pro55Leu	coding	Pathogenic/Likely_pathogenic
12	120737096	T	C	T120737096C	ACADS	NM_000017.4(ACADS):c.321T>C:p.Arg107=	coding	Benign
12	120737135	C	T	C120737135T	ACADS	NM_000017.4(ACADS):c.360C>T:p.Asn120=	coding	Benign
12	120737364	C	G	C120737364G	ACADS	NM_000017.4(ACADS):c.369C>G:p.Tyr123Ter	coding	Pathogenic
12	120737418	G	A	G120737418A	ACADS	NM_000017.4(ACADS):c.423G>A:p.Thr141=	coding	Benign
12	120737721	T	C	T120737721C	ACADS	NM_000017.4(ACADS):c.473-116T>C	noncoding	Benign
12	120737886	C	T	C120737886T	ACADS	NM_000017.4(ACADS):c.522C>T:p.Gly174=	coding	Benign
12	120737893	T	C	T120737893C	ACADS	NM_000017.4(ACADS):c.529T>C:p.Trp177Arg	coding	Pathogenic/Likely_pathogenic
12	120738280	G	A	G120738280A	ACADS	NM_000017.4(ACADS):c.625G>A:p.Gly209Ser	coding	Benign/Likely_benign
12	120738309	A	C	A120738309C	ACADS	NM_000017.4(ACADS):c.654A>C:p.Pro218=	coding	Benign
12	120738438	C	T	C120738438T	ACADS	NM_000017.4(ACADS):c.783C>T:p.Phe261=	coding	Benign
12	120738874	C	T	C120738874T	ACADS	NM_000017.4(ACADS):c.988C>T:p.Arg330Cys	coding	Pathogenic/Likely_pathogenic
12	120738876	C	T	C120738876T	ACADS	NM_000017.4(ACADS):c.990C>T:p.Arg330=	coding	Benign
12	120739141	A	G	A120739141G	ACADS	NM_000017.4(ACADS):c.1031A>G:p.Glu344Gly	coding	Pathogenic/Likely_pathogenic
12	120739321	G	T	G120739321T	ACADS	NM_000017.4(ACADS):c.1112G>T:p.Gly371Val	coding	Pathogenic
12	120739347	C	T	C120739347T	ACADS	NM_000017.4(ACADS):c.1138C>T:p.Arg380Trp	coding	Pathogenic
12	120739356	C	T	C120739356T	ACADS	NM_000017.4(ACADS):c.1147C>T:p.Arg383Cys	coding	Pathogenic/Likely_pathogenic
12	120739453	G	A	G120739453A	ACADS	NM_000017.4(ACADS):c.*5G>A	noncoding	Benign
12	120739469	G	C	G120739469C	ACADS	NM_000017.4(ACADS):c.*21G>C	noncoding	Benign
12	120739563	G	A	G120739563A	ACADS	NM_000017.4(ACADS):c.*115G>A	noncoding	Benign
12	120739697	G	A	G120739697A	ACADS	NM_000017.4(ACADS):c.*249G>A	noncoding	Benign
12	120739758	C	G	C120739758G	ACADS	NM_000017.4(ACADS):c.*310C>G	noncoding	Benign
12	120739835	A	G	A120739835G	ACADS	NM_000017.4(ACADS):c.*387A>G	noncoding	Benign
12	120739948	G	A	G120739948A	ACADS	NM_000017.4(ACADS):c.*500G>A	noncoding	Benign
12	120739975	A	G	A120739975G	ACADS	NM_000017.4(ACADS):c.*527A>G	noncoding	Benign
12	120978769	A	G	A120978769G	HNF1A	NM_000545.6(HNF1A):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
12	120978769	A	T	A120978769T	HNF1A	NM_000545.6(HNF1A):c.1A>T:p.Met1Leu	coding	Pathogenic
12	120978787	C	T	C120978787T	HNF1A	NM_000545.6(HNF1A):c.19C>T:p.Gln7Ter	coding	Pathogenic
12	120978819	C	G	C120978819G	HNF1A	NM_000545.6(HNF1A):c.51C>G:p.Leu17=	coding	Benign
12	120978847	A	C	A120978847C	HNF1A	NM_000545.6(HNF1A):c.79A>C:p.Ile27Leu	coding	Benign
12	120978924	C	T	C120978924T	HNF1A	NM_000545.8(HNF1A):c.156C>T:p.Gly52=	coding	Benign
12	120978928	C	T	C120978928T	HNF1A	NM_000545.8(HNF1A):c.160C>T:p.Arg54Ter	coding	Pathogenic
12	120978978	C	T	C120978978T	HNF1A	NM_000545.6(HNF1A):c.210C>T:p.Ser70=	coding	Benign
12	120979020	C	T	C120979020T	HNF1A	NM_000545.6(HNF1A):c.252C>T:p.Pro84=	coding	Benign
12	120979032	G	A	G120979032A	HNF1A	NM_000545.6(HNF1A):c.264G>A:p.Glu88=	coding	Benign/Likely_benign
12	120979044	C	T	C120979044T	HNF1A	NM_000545.6(HNF1A):c.276C>T:p.Leu92=	coding	Benign
12	120979061	C	T	C120979061T	HNF1A	NM_000545.6(HNF1A):c.293C>T:p.Ala98Val	coding	Benign
12	120979096	T	G	T120979096G	HNF1A	NM_000545.6(HNF1A):c.326+2T>G	noncoding	Pathogenic
12	120979114	C	A	C120979114A	HNF1A	NM_000545.6(HNF1A):c.326+20C>A	noncoding	Benign
12	120979185	A	G	A120979185G	HNF1A	NM_000545.6(HNF1A):c.326+91A>G	noncoding	Benign
12	120988675	C	T	C120988675T	HNF1A	NM_000545.6(HNF1A):c.327-158C>T	noncoding	Benign
12	120988791	G	A	G120988791A	HNF1A	NM_000545.6(HNF1A):c.327-42G>A	noncoding	Benign
12	120988841	C	T	C120988841T	HNF1A	NM_000545.6(HNF1A):c.335C>T:p.Pro112Leu	coding	Pathogenic
12	120988842	G	A	G120988842A	HNF1A	NM_000545.6(HNF1A):c.336G>A:p.Pro112=	coding	Benign/Likely_benign
12	120988871	A	G	A120988871G	HNF1A	NM_000545.6(HNF1A):c.365A>G:p.Tyr122Cys	coding	Pathogenic
12	120988876	C	T	C120988876T	HNF1A	NM_000545.6(HNF1A):c.370C>T:p.Gln124Ter	coding	Pathogenic
12	120988897	C	T	C120988897T	HNF1A	NM_000545.6(HNF1A):c.391C>T:p.Arg131Trp	coding	Pathogenic
12	120988898	G	A	G120988898A	HNF1A	NM_000545.6(HNF1A):c.392G>A:p.Arg131Gln	coding	Pathogenic
12	120988981	C	T	C120988981T	HNF1A	NM_000545.6(HNF1A):c.475C>T:p.Arg159Trp	coding	Pathogenic
12	120988982	G	A	G120988982A	HNF1A	NM_000545.6(HNF1A):c.476G>A:p.Arg159Gln	coding	Pathogenic
12	120989017	C	T	C120989017T	HNF1A	NM_000545.6(HNF1A):c.511C>T:p.Arg171Ter	coding	Pathogenic
12	120989032	C	T	C120989032T	HNF1A	NM_000545.6(HNF1A):c.526C>T:p.Gln176Ter	coding	Pathogenic
12	120993422	G	A	G120993422A	HNF1A	NM_000545.6(HNF1A):c.527-98G>A	noncoding	Benign
12	120993469	T	A	T120993469A	HNF1A	NM_000545.6(HNF1A):c.527-51T>A	noncoding	Benign
12	120993497	C	T	C120993497T	HNF1A	NM_000545.6(HNF1A):c.527-23C>T	noncoding	Benign
12	120993519	G	A	G120993519A	HNF1A	NM_000545.6(HNF1A):c.527-1G>A	noncoding	Pathogenic
12	120993592	G	A	G120993592A	HNF1A	NM_000545.6(HNF1A):c.599G>A:p.Arg200Gln	coding	Pathogenic/Likely_pathogenic
12	120993678	C	T	C120993678T	HNF1A	NM_000545.6(HNF1A):c.685C>T:p.Arg229Ter	coding	Pathogenic
12	120993679	G	A	G120993679A	HNF1A	NM_000545.6(HNF1A):c.686G>A:p.Arg229Gln	coding	Pathogenic
12	120994163	G	A	G120994163A	HNF1A	NM_000545.6(HNF1A):c.714-1G>A	noncoding	Pathogenic
12	120994229	C	T	C120994229T	HNF1A	NM_000545.6(HNF1A):c.779C>T:p.Thr260Met	coding	Pathogenic
12	120994237	C	T	C120994237T	HNF1A	NM_000545.6(HNF1A):c.787C>T:p.Arg263Cys	coding	Pathogenic
12	120994238	G	A	G120994238A	HNF1A	NM_000545.6(HNF1A):c.788G>A:p.Arg263His	coding	Pathogenic
12	120994261	C	T	C120994261T	HNF1A	NM_000545.6(HNF1A):c.811C>T:p.Arg271Trp	coding	Pathogenic
12	120994262	G	A	G120994262A	HNF1A	NM_000545.6(HNF1A):c.812G>A:p.Arg271Gln	coding	Pathogenic
12	120994264	C	T	C120994264T	HNF1A	NM_000545.6(HNF1A):c.814C>T:p.Arg272Cys	coding	Pathogenic
12	120994265	G	A	G120994265A	HNF1A	NM_000545.6(HNF1A):c.815G>A:p.Arg272His	coding	Pathogenic
12	120994274	A	T	A120994274T	HNF1A	NM_000545.8(HNF1A):c.824A>T:p.Glu275Val	coding	Pathogenic
12	120994314	G	C	G120994314C	HNF1A	NM_000545.6(HNF1A):c.864G>C:p.Gly288=	coding	Benign
12	120994321	C	T	C120994321T	HNF1A	NM_000545.6(HNF1A):c.871C>T:p.Pro291Ser	coding	Benign/Likely_benign
12	120994499	T	G	T120994499G	HNF1A	NM_000545.6(HNF1A):c.955+94T>G	noncoding	Benign
12	120996261	G	C	G120996261C	HNF1A	NM_000545.6(HNF1A):c.956-1G>C	noncoding	Pathogenic
12	120996422	C	G	C120996422G	HNF1A	NM_000545.6(HNF1A):c.1107+9C>G	noncoding	Benign/Likely_benign
12	120996568	C	A	C120996568A	HNF1A	NM_000545.8(HNF1A):c.1135C>A:p.Pro379Thr	coding	Pathogenic
12	120997030	G	A	G120997030A	HNF1A	NM_000545.6(HNF1A):c.1309+288G>A	noncoding	Benign
12	120997473	G	A	G120997473A	HNF1A	NM_000545.8(HNF1A):c.1310-1G>A	noncoding	Pathogenic
12	120997487	G	A	G120997487A	HNF1A	NM_000545.6(HNF1A):c.1323G>A:p.Thr441=	coding	Benign/Likely_benign
12	120997504	C	T	C120997504T	HNF1A	NM_000545.6(HNF1A):c.1340C>T:p.Pro447Leu	coding	Pathogenic
12	120997539	C	T	C120997539T	HNF1A	NM_000545.6(HNF1A):c.1375C>T:p.Leu459=	coding	Benign
12	120997541	G	A	G120997541A	HNF1A	NM_000545.6(HNF1A):c.1377G>A:p.Leu459=	coding	Benign/Likely_benign
12	120997542	C	T	C120997542T	HNF1A	NM_000545.6(HNF1A):c.1378C>T:p.Gln460Ter	coding	Pathogenic
12	120997560	C	T	C120997560T	HNF1A	NM_000545.8(HNF1A):c.1396C>T:p.Gln466Ter	coding	Pathogenic
12	120997589	G	A	G120997589A	HNF1A	NM_000545.6(HNF1A):c.1425G>A:p.Pro475=	coding	Benign/Likely_benign
12	120997610	C	T	C120997610T	HNF1A	NM_000545.8(HNF1A):c.1446C>T:p.Ser482=	coding	Benign
12	120997624	G	A	G120997624A	HNF1A	NM_000545.6(HNF1A):c.1460G>A:p.Ser487Asn	coding	Benign
12	120997647	C	T	C120997647T	HNF1A	NM_000545.6(HNF1A):c.1483C>T:p.Gln495Ter	coding	Pathogenic
12	120997653	C	T	C120997653T	HNF1A	NM_000545.6(HNF1A):c.1489C>T:p.Gln497Ter	coding	Pathogenic
12	120997664	C	T	C120997664T	HNF1A	NM_000545.6(HNF1A):c.1500C>T:p.His500=	coding	Benign
12	120997672	G	A	G120997672A	HNF1A	NM_000545.6(HNF1A):c.1501+7G>A	noncoding	Benign
12	120997784	G	T	G120997784T	HNF1A	NM_000545.6(HNF1A):c.1501+119G>T	noncoding	Benign
12	120999262	G	A	G120999262A	HNF1A	NM_000545.8(HNF1A):c.1502-6G>A	noncoding	Pathogenic
12	120999311	G	A	G120999311A	HNF1A	NM_000545.6(HNF1A):c.1545G>A:p.Thr515=	coding	Benign
12	120999563	C	T	C120999563T	HNF1A	NM_000545.6(HNF1A):c.1704C>T:p.Pro568=	coding	Benign
12	120999579	A	G	A120999579G	HNF1A	NM_000545.8(HNF1A):c.1720A>G:p.Ser574Gly	coding	Benign
12	120999581	C	A	C120999581A	HNF1A	NM_000545.6(HNF1A):c.1722C>A:p.Gly574=	coding	Benign/Likely_benign
12	120999628	G	A	G120999628A	HNF1A	NM_000545.8(HNF1A):c.1768+1G>A	coding	Pathogenic
12	121001041	T	C	T121001041C	HNF1A	NM_022895.3(C12orf43):c.*3112A>G	noncoding	Benign
12	121001096	C	T	C121001096T	HNF1A	NM_022895.3(C12orf43):c.*3057G>A	coding	Benign/Likely_benign
12	121001155	C	T	C121001155T	HNF1A	NM_022895.3(C12orf43):c.*2998G>A	coding	Pathogenic
12	121001197	G	A	G121001197A	HNF1A	NM_022895.3(C12orf43):c.*2956C>T	noncoding	Benign/Likely_benign
12	121001389	G	T	G121001389T	HNF1A	NM_022895.3(C12orf43):c.*2764C>A	noncoding	Benign
12	121001406	G	A	G121001406A	HNF1A	NM_022895.3(C12orf43):c.*2747C>T	noncoding	Benign
12	121001630	G	A	G121001630A	HNF1A	NM_022895.3(C12orf43):c.*2523C>T	noncoding	Benign
12	121001639	T	A	T121001639A	HNF1A	NM_022895.3(C12orf43):c.*2514A>T	noncoding	Benign
12	121001795	G	A	G121001795A	HNF1A	NM_022895.3(C12orf43):c.*2358C>T	noncoding	Benign
12	121002131	G	A	G121002131A	HNF1A	NM_022895.3(C12orf43):c.*2022C>T	noncoding	Benign
12	121002460	G	A	G121002460A	HNF1A	NM_022895.3(C12orf43):c.*1693C>T	noncoding	Benign
12	121154893	T	C	T121154893C	P2RX7	NM_002562.6(P2RX7):c.234T>C:p.Asn78=	coding	Benign
12	121162416	C	T	C121162416T	P2RX7	NM_002562.6(P2RX7):c.437-8C>T	coding	Benign
12	121167551	C	T	C121167551T	P2RX7	NM_002562.6(P2RX7):c.808C>T:p.Arg270Cys	coding	Benign
12	121175426	G	A	G121175426A	P2RX7	NM_002562.6(P2RX7):c.920G>A:p.Arg307Gln	coding	Benign
12	121175465	T	C	T121175465C	P2RX7	NM_002562.6(P2RX7):c.959T>C:p.Leu320Pro	coding	Benign
12	121184578	G	A	G121184578A	P2RX7	NM_002562.6(P2RX7):c.1564G>A:p.Val522Ile	coding	Benign
12	121210171	G	T	G121210171T	P2RX4	NM_002560.3(P2RX4):c.7G>T:p.Gly3Cys	coding	Benign
12	121222171	G	C	G121222171C	P2RX4	NM_002560.3(P2RX4):c.427+5G>C	noncoding	Benign
12	121232515	G	A	G121232515A	P2RX4	NM_002560.3(P2RX4):c.978+8G>A	noncoding	Benign
12	121232987	C	G	C121232987G	P2RX4	NM_002560.3(P2RX4):c.1045-10C>G	noncoding	Benign
12	121249958	C	T	C121249958T	CAMKK2	NM_001270485.2(CAMKK2):c.1235+3G>A	noncoding	Benign
12	121253327	G	A	G121253327A	CAMKK2	NM_001270485.2(CAMKK2):c.1053C>T:p.Pro351=	coding	Benign
12	121255566	G	A	G121255566A	CAMKK2	NM_001270485.2(CAMKK2):c.891C>T:p.Ile297=	coding	Benign
12	121274077	G	A	G121274077A	CAMKK2	NM_001270485.2(CAMKK2):c.450C>T:p.His150=	coding	Benign
12	121274128	G	A	G121274128A	CAMKK2	NM_001270485.2(CAMKK2):c.399C>T:p.Ser133=	coding	Benign
12	121274173	G	A	G121274173A	CAMKK2	NM_001270485.2(CAMKK2):c.354C>T:p.Asn118=	coding	Benign
12	121274461	G	A	G121274461A	CAMKK2	NM_001270485.2(CAMKK2):c.66C>T:p.Gly22=	coding	Benign
12	121417808	G	A	G121417808A	RNF34	NM_194271.2(RNF34):c.533G>A:p.Arg178His	coding	Benign
12	121440904	C	A	C121440904A	KDM2B	NM_032590.5(KDM2B):c.3522G>T:p.Leu1174=	coding	Benign
12	121442267	G	A	G121442267A	KDM2B	NM_032590.5(KDM2B):c.3174C>T:p.Asp1058=	coding	Benign
12	121509888	G	A	G121509888A	KDM2B	NM_032590.5(KDM2B):c.1326C>T:p.Gly442=	coding	Benign
12	121509927	G	A	G121509927A	KDM2B	NM_032590.5(KDM2B):c.1287C>T:p.Gly429=	coding	Benign
12	121574540	G	A	G121574540A	KDM2B	NM_032590.5(KDM2B):c.397+7C>T	noncoding	Benign
12	121626754	G	T	G121626754T	ORAI1	NM_032790.3(ORAI1):c.12G>T:p.Glu4Asp	coding	Benign
12	121626879	A	G	A121626879G	ORAI1	NM_032790.3(ORAI1):c.132A>G:p.Pro44=	coding	Benign
12	121627018	C	T	C121627018T	ORAI1	NM_032790.3(ORAI1):c.271C>T:p.Arg91Trp	coding	Pathogenic
12	121627037	C	G	C121627037G	ORAI1	NM_032790.3(ORAI1):c.290C>G:p.Ser97Cys	coding	Pathogenic
12	121627039	G	A	G121627039A	ORAI1	NM_032790.3(ORAI1):c.292G>A:p.Gly98Ser	coding	Pathogenic
12	121641036	C	T	C121641036T	ORAI1	NM_032790.3(ORAI1):c.309-5C>T	noncoding	Benign
12	121641045	C	A	C121641045A	ORAI1	NM_032790.3(ORAI1):c.308C>A:p.Ala103Glu	coding	Pathogenic
12	121641149	C	T	C121641149T	ORAI1	NM_032790.3(ORAI1):c.412C>T:p.Leu138Phe	coding	Pathogenic
12	121641277	C	T	C121641277T	ORAI1	NM_032790.3(ORAI1):c.540C>T:p.Thr180=	coding	Benign/Likely_benign
12	121641283	C	T	C121641283T	ORAI1	NM_032790.3(ORAI1):c.546C>T:p.Ile182=	coding	Benign
12	121641313	G	A	G121641313A	ORAI1	NM_032790.3(ORAI1):c.576G>A:p.Val192=	coding	Benign/Likely_benign
12	121641318	T	C	T121641318C	ORAI1	NM_032790.3(ORAI1):c.581T>C:p.Leu194Pro	coding	Pathogenic
12	121641389	A	G	A121641389G	ORAI1	NM_032790.3(ORAI1):c.652A>G:p.Ser218Gly	coding	Benign
12	121641442	T	C	T121641442C	ORAI1	NM_032790.3(ORAI1):c.705T>C:p.Ala235=	coding	Benign
12	121641471	C	T	C121641471T	ORAI1	NM_032790.3(ORAI1):c.734C>T:p.Pro245Leu	coding	Pathogenic
12	121641523	T	C	T121641523C	ORAI1	NM_032790.3(ORAI1):c.786T>C:p.Val262=	coding	Benign
12	121641529	T	C	T121641529C	ORAI1	NM_032790.3(ORAI1):c.792T>C:p.His264=	coding	Benign
12	121641535	T	C	T121641535C	ORAI1	NM_032790.3(ORAI1):c.798T>C:p.Thr266=	coding	Benign
12	121641622	G	A	G121641622A	ORAI1	NM_032790.3(ORAI1):c.885G>A:p.Thr295=	coding	Benign
12	121653179	G	C	G121653179C	MORN3	NM_173855.5(MORN3):c.544C>G:p.Gln182Glu	coding	Benign
12	121653265	G	A	G121653265A	MORN3	NM_173855.5(MORN3):c.464-6C>T	noncoding	Benign
12	121817249	C	T	C121817249T	SETD1B	NM_001353345.2(SETD1B):c.2932C>T:p.Gln978Ter	coding	Pathogenic
12	121822543	C	T	C121822543T	SETD1B	NM_001353345.2(SETD1B):c.3964C>T:p.Gln1322Ter	coding	Pathogenic
12	121827996	C	T	C121827996T	SETD1B	NM_001353345.2(SETD1B):c.5653C>T:p.Arg1885Trp	coding	Pathogenic
12	121830171	T	C	T121830171C	SETD1B	NM_001353345.2(SETD1B):c.5833T>C:p.Phe1945Leu	coding	Pathogenic
12	121839985	C	A	C121839985A	HPD	NM_002150.3(HPD):c.1018G>T:p.Val340Leu	coding	Benign
12	121846880	G	A	G121846880A	HPD	NM_002150.3(HPD):c.813C>T:p.Thr271=	coding	Benign
12	121846919	A	C	A121846919C	HPD	NM_002150.3(HPD):c.774T>G:p.Tyr258Ter	coding	Pathogenic
12	121847089	T	C	T121847089C	HPD	NM_002150.3(HPD):c.722A>G:p.Asn241Ser	coding	Pathogenic
12	121847211	G	C	G121847211C	HPD	NM_002150.3(HPD):c.600C>G:p.Tyr200Ter	coding	Pathogenic
12	121849706	C	T	C121849706T	HPD	NM_002150.3(HPD):c.499G>A:p.Asp167Asn	coding	Benign/Likely_benign
12	121849726	T	C	T121849726C	HPD	NM_002150.3(HPD):c.479A>G:p.Tyr160Cys	coding	Pathogenic
12	121854703	C	T	C121854703T	HPD	NM_002150.3(HPD):c.414G>A:p.Thr138=	coding	Benign
12	121854772	G	A	G121854772A	HPD	NM_002150.3(HPD):c.345C>T:p.Ala115=	coding	Benign
12	121854775	G	A	G121854775A	HPD	NM_002150.3(HPD):c.342C>T:p.Gly114=	coding	Benign
12	121854779	C	T	C121854779T	HPD	NM_002150.3(HPD):c.338G>A:p.Arg113Gln	coding	Benign
12	121857429	T	C	T121857429C	HPD	NM_002150.3(HPD):c.97A>G:p.Thr33Ala	coding	Benign
12	121857438	T	A	T121857438A	HPD	NM_002150.3(HPD):c.94-6A>T	noncoding	Benign
12	121857775	C	T	C121857775T	HPD	NM_002150.3(HPD):c.75G>A:p.Trp25Ter	coding	Pathogenic
12	121857807	G	A	G121857807A	HPD	NM_002150.3(HPD):c.43C>T:p.Arg15Ter	coding	Pathogenic
12	121858702	A	C	A121858702C	HPD	NM_002150.3(HPD):c.15T>G:p.Ser5Arg	coding	Benign
12	121858878	C	T	C121858878T	HPD	NM_001171993.1(HPD):c.-115+47G>A	noncoding	Benign
12	121921636	G	T	G121921636T	CFAP251	NM_144668.6(CFAP251):c.331G>T:p.Glu111Ter	coding	Pathogenic
12	121934277	G	A	G121934277A	CFAP251	NM_144668.6(CFAP251):c.919G>A:p.Val307Ile	coding	Benign
12	121949042	G	A	G121949042A	CFAP251	NM_144668.6(CFAP251):c.1250G>A:p.Arg417Gln	coding	Benign
12	122208411	C	T	C122208411T	DIABLO	NM_001371333.1(DIABLO):c.690G>A:p.Ser230=	coding	Benign
12	122208431	C	T	C122208431T	DIABLO	NM_030765.4(B3GNT4):c.*1043C>T	coding	Benign/Likely_benign
12	122208555	G	A	G122208555A	DIABLO	NM_030765.4(B3GNT4):c.*1167G>A	coding	Benign/Likely_benign
12	122216808	G	A	G122216808A	DIABLO	NM_019887.6(DIABLO):c.377C>T:p.Ser126Leu	coding	Pathogenic
12	122216877	T	C	T122216877C	DIABLO	NM_001371333.1(DIABLO):c.316-8A>G	noncoding	Benign/Likely_benign
12	122232917	G	A	G122232917A	VPS33A	NM_022916.6(VPS33A):c.1492C>T:p.Arg498Trp	coding	Pathogenic
12	122250022	C	T	C122250022T	VPS33A	NM_022916.6(VPS33A):c.624G>A:p.Arg208=	coding	Benign
12	122261285	G	A	G122261285A	VPS33A	NM_022916.6(VPS33A):c.459C>T:p.Ser153=	coding	Benign
12	122263586	A	G	A122263586G	VPS33A	NM_022916.6(VPS33A):c.282T>C:p.Ala94=	coding	Benign
12	122263594	T	G	T122263594G	VPS33A	NM_022916.6(VPS33A):c.274A>C:p.Ile92Leu	coding	Benign
12	122266153	T	G	T122266153G	VPS33A	NM_022916.6(VPS33A):c.102+154A>C	noncoding	Benign
12	122266297	C	T	C122266297T	VPS33A	NM_022916.6(VPS33A):c.102+10G>A	noncoding	Benign
12	122278196	T	C	T122278196C	CLIP1	NM_002956.2(CLIP1):c.3891A>G:p.Thr1297=	coding	Benign
12	122328016	G	A	G122328016A	CLIP1	NM_002956.2(CLIP1):c.3147C>T:p.Gly1049=	coding	Benign
12	122361061	C	T	C122361061T	CLIP1	NM_002956.2(CLIP1):c.903G>A:p.Ala301=	coding	Benign
12	122364054	G	A	G122364054A	CLIP1	NM_002956.2(CLIP1):c.711C>T:p.Ala237=	coding	Benign
12	122377616	G	A	G122377616A	CLIP1	NM_002956.2(CLIP1):c.430C>T:p.Arg144Ter	coding	Pathogenic
12	122377740	C	T	C122377740T	CLIP1	NM_002956.2(CLIP1):c.306G>A:p.Ser102=	coding	Benign
12	122377749	G	A	G122377749A	CLIP1	NM_002956.2(CLIP1):c.297C>T:p.Asn99=	coding	Benign/Likely_benign
12	122473548	C	T	C122473548T	ZCCHC8	NM_017612.5(ZCCHC8):c.2073G>A:p.Leu691=	coding	Benign
12	122473634	T	C	T122473634C	ZCCHC8	NM_017612.5(ZCCHC8):c.1987A>G:p.Met663Val	coding	Benign
12	122473994	C	T	C122473994T	ZCCHC8	NM_017612.5(ZCCHC8):c.1627G>A:p.Val543Ile	coding	Benign
12	122477836	C	T	C122477836T	ZCCHC8	NM_017612.5(ZCCHC8):c.1345+5G>A	noncoding	Benign
12	122482625	A	G	A122482625G	ZCCHC8	NM_017612.5(ZCCHC8):c.732+10T>C	noncoding	Benign
12	122483508	G	A	G122483508A	ZCCHC8	NM_017612.5(ZCCHC8):c.557C>T:p.Pro186Leu	coding	Pathogenic
12	122702333	C	T	C122702333T	HCAR2	NM_177551.4(HCAR2):c.951G>A:p.Met317Ile	coding	Benign
12	122798161	A	T	A122798161T	CCDC62	NM_201435.5(CCDC62):c.938A>T:p.Tyr313Phe	coding	Benign
12	122801238	G	A	G122801238A	CCDC62	NM_201435.5(CCDC62):c.1092G>A:p.Gln364=	coding	Benign
12	122854035	T	C	T122854035C	HIP1R	NM_003959.3(HIP1R):c.578-8T>C	noncoding	Benign
12	122858159	C	T	C122858159T	HIP1R	NM_003959.3(HIP1R):c.1873C>T:p.Arg625Trp	coding	Benign
12	122861500	A	C	A122861500C	HIP1R	NM_003959.3(HIP1R):c.3145A>C:p.Arg1049=	coding	Benign
12	123233754	C	T	C123233754T	C12orf65	NM_152269.5(C12orf65):c.-29+223C>T	noncoding	Benign
12	123253386	G	T	G123253386T	C12orf65	NM_152269.5(C12orf65):c.-28-261G>T	noncoding	Benign
12	123253718	G	A	G123253718A	C12orf65	NM_152269.5(C12orf65):c.44G>A:p.Arg15Gln	coding	Benign
12	123253947	C	T	C123253947T	C12orf65	NM_152269.5(C12orf65):c.273C>T:p.Ile91=	coding	Benign
12	123253958	T	A	T123253958A	C12orf65	NM_152269.5(C12orf65):c.282+2T>A	noncoding	Pathogenic
12	123256839	G	A	G123256839A	C12orf65	NM_152269.5(C12orf65):c.309G>A:p.Gln103=	coding	Benign
12	123256924	C	T	C123256924T	C12orf65	NM_152269.5(C12orf65):c.394C>T:p.Arg132Ter	coding	Pathogenic
12	123256998	A	G	A123256998G	C12orf65	NM_152269.5(C12orf65):c.468A>G:p.Lys156=	coding	Benign/Likely_benign
12	123265287	G	A	G123265287A	CDK2AP1	NM_004642.4(CDK2AP1):c.189C>T:p.Tyr63=	coding	Benign
12	123265305	C	T	C123265305T	CDK2AP1	NM_004642.4(CDK2AP1):c.171G>A:p.Gln57=	coding	Benign
12	123298083	G	A	G123298083A	SBNO1	NM_001167856.3(SBNO1):c.3934C>T:p.Leu1312=	coding	Benign
12	123309316	T	C	T123309316C	SBNO1	NM_001167856.3(SBNO1):c.3624A>G:p.Ser1208=	coding	Benign
12	123320714	G	A	G123320714A	SBNO1	NM_001167856.3(SBNO1):c.2476C>T:p.Pro826Ser	coding	Benign
12	123321736	C	T	C123321736T	SBNO1	NM_001167856.3(SBNO1):c.2126-4G>A	noncoding	Benign
12	123327582	G	A	G123327582A	SBNO1	NM_001167856.3(SBNO1):c.1539-3C>T	noncoding	Benign
12	123327748	T	C	T123327748C	SBNO1	NM_001167856.3(SBNO1):c.1497A>G:p.Pro499=	coding	Benign
12	123341088	G	A	G123341088A	SBNO1	NM_001167856.3(SBNO1):c.551C>T:p.Thr184Ile	coding	Benign
12	123341093	G	A	G123341093A	SBNO1	NM_001167856.3(SBNO1):c.551-5C>T	noncoding	Benign
12	123621025	A	G	A123621025G	EIF2B1	NM_001414.4(EIF2B1):c.*731T>C	noncoding	Benign
12	123621091	G	A	G123621091A	EIF2B1	NM_001414.4(EIF2B1):c.*665C>T	noncoding	Benign
12	123621292	T	C	T123621292C	EIF2B1	NM_001414.4(EIF2B1):c.*464A>G	noncoding	Benign
12	123621330	C	G	C123621330G	EIF2B1	NM_001414.4(EIF2B1):c.*426G>C	noncoding	Benign
12	123621361	A	G	A123621361G	EIF2B1	NM_001414.4(EIF2B1):c.*395T>C	noncoding	Benign
12	123621378	G	A	G123621378A	EIF2B1	NM_001414.4(EIF2B1):c.*378C>T	noncoding	Benign
12	123621401	C	T	C123621401T	EIF2B1	NM_001414.4(EIF2B1):c.*355G>A	noncoding	Benign
12	123621402	G	T	G123621402T	EIF2B1	NM_001414.4(EIF2B1):c.*354C>A	noncoding	Benign
12	123621404	G	C	G123621404C	EIF2B1	NM_001414.4(EIF2B1):c.*352C>G	noncoding	Benign
12	123621498	T	C	T123621498C	EIF2B1	NM_001414.4(EIF2B1):c.*258A>G	noncoding	Benign
12	123621560	T	A	T123621560A	EIF2B1	NM_001414.4(EIF2B1):c.*196A>T	noncoding	Benign
12	123621577	T	G	T123621577G	EIF2B1	NM_001414.4(EIF2B1):c.*179A>C	noncoding	Benign
12	123621707	C	T	C123621707T	EIF2B1	NM_001414.4(EIF2B1):c.*49G>A	noncoding	Benign
12	123621841	G	C	G123621841C	EIF2B1	NM_001414.4(EIF2B1):c.833C>G:p.Pro278Arg	coding	Pathogenic
12	123621850	T	C	T123621850C	EIF2B1	NM_001414.4(EIF2B1):c.824A>G:p.Tyr275Cys	coding	Pathogenic
12	123622674	A	C	A123622674C	EIF2B1	NM_001414.4(EIF2B1):c.715T>G:p.Phe239Val	coding	Pathogenic
12	123624792	T	A	T123624792A	EIF2B1	NM_001414.4(EIF2B1):c.622A>T:p.Asn208Tyr	coding	Pathogenic
12	123626387	G	T	G123626387T	EIF2B1	NM_001414.4(EIF2B1):c.551+38C>A	noncoding	Benign
12	123626429	C	A	C123626429A	EIF2B1	NM_001414.4(EIF2B1):c.547G>T:p.Val183Phe	coding	Pathogenic
12	123626515	C	A	C123626515A	EIF2B1	NM_001414.4(EIF2B1):c.483-22G>T	noncoding	Benign
12	123627109	T	C	T123627109C	EIF2B1	NM_001414.4(EIF2B1):c.417A>G:p.Glu139=	coding	Benign
12	123627176	T	C	T123627176C	EIF2B1	NM_001414.4(EIF2B1):c.370-20A>G	noncoding	Benign
12	123630210	T	C	T123630210C	EIF2B1	NM_001414.4(EIF2B1):c.328A>G:p.Lys110Glu	coding	Pathogenic
12	123671146	G	A	G123671146A	TCTN2	NM_024809.5(TCTN2):c.-95G>A	noncoding	Benign
12	123671186	C	A	C123671186A	TCTN2	NM_024809.5(TCTN2):c.-55C>A	noncoding	Benign/Likely_benign
12	123671312	G	A	G123671312A	TCTN2	NM_024809.5(TCTN2):c.72G>A:p.Trp24Ter	coding	Pathogenic
12	123671503	C	T	C123671503T	TCTN2	NM_024809.5(TCTN2):c.83-4C>T	noncoding	Benign
12	123671940	C	T	C123671940T	TCTN2	NM_024809.5(TCTN2):c.191-116C>T	noncoding	Benign
12	123672090	C	T	C123672090T	TCTN2	NM_024809.5(TCTN2):c.225C>T:p.Asn75=	coding	Benign
12	123672215	G	A	G123672215A	TCTN2	NM_024809.5(TCTN2):c.267+83G>A	noncoding	Benign
12	123672350	A	G	A123672350G	TCTN2	NM_024809.5(TCTN2):c.267+218A>G	noncoding	Benign
12	123673533	A	G	A123673533G	TCTN2	NM_024809.5(TCTN2):c.268-82A>G	noncoding	Benign
12	123673707	C	G	C123673707G	TCTN2	NM_024809.5(TCTN2):c.360C>G:p.Leu120=	coding	Benign/Likely_benign
12	123686604	C	T	C123686604T	TCTN2	NM_024809.5(TCTN2):c.565-232C>T	noncoding	Benign
12	123686629	A	G	A123686629G	TCTN2	NM_024809.5(TCTN2):c.565-207A>G	noncoding	Benign
12	123686776	T	C	T123686776C	TCTN2	NM_024809.5(TCTN2):c.565-60T>C	noncoding	Benign
12	123686884	G	T	G123686884T	TCTN2	NM_024809.5(TCTN2):c.613G>T:p.Gly205Cys	coding	Pathogenic
12	123686925	C	T	C123686925T	TCTN2	NM_024809.5(TCTN2):c.654C>T:p.Leu218=	coding	Benign/Likely_benign
12	123687063	G	C	G123687063C	TCTN2	NM_024809.5(TCTN2):c.764+28G>C	noncoding	Benign
12	123687111	C	T	C123687111T	TCTN2	NM_024809.5(TCTN2):c.764+76C>T	noncoding	Benign
12	123687279	T	C	T123687279C	TCTN2	NM_024809.5(TCTN2):c.764+244T>C	noncoding	Benign
12	123688008	A	T	A123688008T	TCTN2	NM_024809.5(TCTN2):c.765-43A>T	noncoding	Benign
12	123688159	A	G	A123688159G	TCTN2	NM_024809.5(TCTN2):c.873A>G:p.Ala291=	coding	Benign
12	123688184	G	A	G123688184A	TCTN2	NM_024809.5(TCTN2):c.891+7G>A	noncoding	Benign
12	123688199	T	C	T123688199C	TCTN2	NM_024809.5(TCTN2):c.891+22T>C	noncoding	Benign
12	123688231	T	A	T123688231A	TCTN2	NM_024809.5(TCTN2):c.891+54T>A	noncoding	Benign
12	123688458	T	G	T123688458G	TCTN2	NM_024809.5(TCTN2):c.891+281T>G	noncoding	Benign
12	123690390	A	T	A123690390T	TCTN2	NM_024809.5(TCTN2):c.892-143A>T	noncoding	Benign
12	123690539	C	T	C123690539T	TCTN2	NM_024809.5(TCTN2):c.898C>T:p.Leu300=	coding	Benign/Likely_benign
12	123692469	C	A	C123692469A	TCTN2	NM_024809.5(TCTN2):c.1034-189C>A	noncoding	Benign
12	123692742	T	C	T123692742C	TCTN2	NM_024809.5(TCTN2):c.1099+19T>C	noncoding	Benign
12	123692991	C	T	C123692991T	TCTN2	NM_024809.5(TCTN2):c.1099+268C>T	noncoding	Benign
12	123694870	T	C	T123694870C	TCTN2	NM_024809.5(TCTN2):c.1128T>C:p.Pro376=	coding	Benign
12	123695073	G	A	G123695073A	TCTN2	NM_024809.5(TCTN2):c.1234+97G>A	noncoding	Benign
12	123695092	A	G	A123695092G	TCTN2	NM_024809.5(TCTN2):c.1234+116A>G	noncoding	Benign
12	123695192	A	G	A123695192G	TCTN2	NM_024809.5(TCTN2):c.1235-28A>G	noncoding	Benign
12	123695219	G	A	G123695219A	TCTN2	NM_024809.5(TCTN2):c.1235-1G>A	noncoding	Pathogenic
12	123695276	G	T	G123695276T	TCTN2	NM_024809.5(TCTN2):c.1291G>T:p.Glu431Ter	coding	Pathogenic
12	123695464	T	C	T123695464C	TCTN2	NM_024809.5(TCTN2):c.1312+167T>C	noncoding	Benign
12	123696502	C	T	C123696502T	TCTN2	NM_024809.5(TCTN2):c.1393+7C>T	noncoding	Benign
12	123697273	A	G	A123697273G	TCTN2	NM_024809.5(TCTN2):c.1505+75A>G	noncoding	Benign
12	123699518	G	A	G123699518A	TCTN2	NM_024809.5(TCTN2):c.1506-186G>A	noncoding	Benign
12	123699702	A	G	A123699702G	TCTN2	NM_024809.5(TCTN2):c.1506-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	123699783	C	G	C123699783G	TCTN2	NM_024809.5(TCTN2):c.1585C>G:p.Leu529Val	coding	Benign/Likely_benign
12	123699935	G	C	G123699935C	TCTN2	NM_024809.5(TCTN2):c.1612+125G>C	noncoding	Benign
12	123704562	C	T	C123704562T	TCTN2	NM_024809.5(TCTN2):c.1643C>T:p.Pro548Leu	coding	Benign
12	123704670	T	A	T123704670A	TCTN2	NM_024809.5(TCTN2):c.1751T>A:p.Ile584Lys	coding	Pathogenic
12	123706829	C	T	C123706829T	TCTN2	NM_024809.5(TCTN2):c.1873C>T:p.Gln625Ter	coding	Pathogenic
12	123706833	T	A	T123706833A	TCTN2	NM_024809.5(TCTN2):c.1877T>A:p.Leu626Ter	coding	Pathogenic
12	123707660	T	C	T123707660C	ATP6V0A2;TCTN2	NM_024809.5(TCTN2):c.2041T>C:p.Leu681=	coding	Benign/Likely_benign
12	123707800	C	T	C123707800T	ATP6V0A2;TCTN2	NM_024809.5(TCTN2):c.*87C>T	noncoding	Benign/Likely_benign
12	123707868	G	A	G123707868A	ATP6V0A2;TCTN2	NM_024809.5(TCTN2):c.*155G>A	noncoding	Benign
12	123712159	A	T	A123712159T	ATP6V0A2	NC_000012.12:g.123712159A>T	noncoding	Benign
12	123712166	G	C	G123712166C	ATP6V0A2	NC_000012.12:g.123712166G>C	noncoding	Benign
12	123712167	A	T	A123712167T	ATP6V0A2	NC_000012.12:g.123712167A>T	noncoding	Benign
12	123712344	C	G	C123712344G	ATP6V0A2;TCTN2	NM_012463.3(ATP6V0A2):c.-222C>G	noncoding	Benign/Likely_benign
12	123712552	C	T	C123712552T	ATP6V0A2;TCTN2	NM_012463.4(ATP6V0A2):c.-14C>T	noncoding	Benign/Likely_benign
12	123712696	G	A	G123712696A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.117+14G>A	noncoding	Benign/Likely_benign
12	123718692	C	T	C123718692T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.187C>T:p.Arg63Ter	coding	Pathogenic
12	123722449	G	A	G123722449A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.294+1G>A	coding	Pathogenic
12	123724663	C	T	C123724663T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.304C>T:p.Gln102Ter	coding	Pathogenic
12	123724785	T	C	T123724785C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.426T>C:p.Asn142=	coding	Benign
12	123724805	C	T	C123724805T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.432+14C>T	noncoding	Benign
12	123726027	A	G	A123726027G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.433-170A>G	noncoding	Benign
12	123726235	T	C	T123726235C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.471T>C:p.Ser157=	coding	Benign
12	123735244	C	T	C123735244T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.732-287C>T	noncoding	Benign
12	123735508	T	C	T123735508C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.732-23T>C	noncoding	Benign
12	123735529	A	G	A123735529G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.732-2A>G	noncoding	Pathogenic
12	123735576	G	A	G123735576A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.777G>A:p.Arg259=	coding	Benign
12	123735626	T	C	T123735626C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.825+2T>C	noncoding	Pathogenic
12	123737249	G	A	G123737249A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1016G>A:p.Arg339His	coding	Benign
12	123743771	T	C	T123743771C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1039-14T>C	noncoding	Benign
12	123743867	A	G	A123743867G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1121A>G:p.Lys374Arg	coding	Benign
12	123743874	C	T	C123743874T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1128C>T:p.Thr376=	coding	Benign/Likely_benign
12	123744335	G	T	G123744335T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1324G>T:p.Glu442Ter	coding	Pathogenic
12	123744785	G	A	G123744785A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1514+1G>A	coding	Pathogenic
12	123744882	T	C	T123744882C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1515T>C:p.Asn505=	coding	Benign
12	123744957	C	T	C123744957T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1590C>T:p.Pro530=	coding	Benign/Likely_benign
12	123744973	G	A	G123744973A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1605+1G>A	coding	Pathogenic
12	123747595	G	A	G123747595A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1606-12G>A	noncoding	Benign
12	123747699	A	G	A123747699G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1698A>G:p.Gly566=	coding	Benign/Likely_benign
12	123748722	G	A	G123748722A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1872G>A:p.Leu624=	coding	Benign
12	123751228	G	A	G123751228A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2054G>A:p.Arg685Gln	coding	Benign/Likely_benign
12	123754537	C	T	C123754537T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2293C>T:p.Gln765Ter	coding	Pathogenic
12	123756811	G	A	G123756811A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2294-4G>A	noncoding	Benign/Likely_benign
12	123756823	G	A	G123756823A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2302G>A:p.Asp768Asn	coding	Benign
12	123756959	C	T	C123756959T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2438C>T:p.Ala813Val	coding	Benign
12	123757044	T	C	T123757044C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2465+58T>C	noncoding	Benign
12	123758010	A	G	A123758010G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2549A>G:p.Asn850Ser	coding	Benign
12	123758147	C	T	C123758147T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*115C>T	noncoding	Benign
12	123758606	C	T	C123758606T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*574C>T	noncoding	Benign
12	123759096	G	A	G123759096A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1064G>A	noncoding	Benign
12	123759154	A	G	A123759154G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1122A>G	noncoding	Benign
12	123759160	T	C	T123759160C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1128T>C	noncoding	Benign
12	123759237	C	G	C123759237G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1205C>G	noncoding	Benign
12	123759632	G	A	G123759632A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1600G>A	noncoding	Benign
12	123759677	G	A	G123759677A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1645G>A	noncoding	Benign
12	123759725	C	G	C123759725G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1693C>G	noncoding	Benign
12	123759763	C	T	C123759763T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1731C>T	noncoding	Benign
12	123759869	T	C	T123759869C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*1837T>C	noncoding	Benign
12	123760361	G	A	G123760361A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2329G>A	noncoding	Benign
12	123760385	G	T	G123760385T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2353G>T	noncoding	Benign
12	123760389	C	T	C123760389T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2357C>T	noncoding	Benign
12	123760678	A	G	A123760678G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2646A>G	noncoding	Benign
12	123760742	G	A	G123760742A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2710G>A	noncoding	Benign
12	123760909	T	A	T123760909A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*2877T>A	noncoding	Benign
12	123761032	G	A	G123761032A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3000G>A	noncoding	Benign
12	123761199	G	A	G123761199A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3167G>A	noncoding	Benign
12	123761259	C	G	C123761259G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3227C>G	noncoding	Benign
12	123761267	A	G	A123761267G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3235A>G	noncoding	Benign
12	123761389	G	C	G123761389C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3357G>C	noncoding	Benign
12	123761457	G	A	G123761457A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3425G>A	noncoding	Benign
12	123761585	G	A	G123761585A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3553G>A	noncoding	Benign
12	123761635	G	A	G123761635A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3603G>A	noncoding	Benign
12	123761686	A	G	A123761686G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.*3654A>G	noncoding	Benign
12	123772914	C	T	C123772914T	DNAH10	NM_001372106.1(DNAH10):c.477C>T:p.Asn159=	coding	Benign
12	123774273	G	A	G123774273A	DNAH10	NM_001372106.1(DNAH10):c.621+9G>A	noncoding	Benign
12	123781140	T	C	T123781140C	DNAH10	NM_207437.3(DNAH10):c.499T>C:p.Ser167Pro	coding	Benign
12	123781160	C	G	C123781160G	DNAH10	NM_001372106.1(DNAH10):c.702C>G:p.Ser234=	coding	Benign
12	123783091	A	G	A123783091G	DNAH10	NM_207437.3(DNAH10):c.659-16A>G	noncoding	Benign
12	123783156	T	C	T123783156C	DNAH10	NM_207437.3(DNAH10):c.708T>C:p.Ser236=	coding	Benign
12	123785818	G	A	G123785818A	DNAH10	NM_001372106.1(DNAH10):c.1303G>A:p.Val435Met	coding	Benign
12	123785920	C	T	C123785920T	DNAH10	NM_001372106.1(DNAH10):c.1405C>T:p.Leu469=	coding	Benign
12	123785924	G	A	G123785924A	DNAH10	NM_001372106.1(DNAH10):c.1409G>A:p.Arg470Gln	coding	Benign
12	123787835	T	C	T123787835C	DNAH10	NM_001372106.1(DNAH10):c.1453T>C:p.Leu485=	coding	Benign
12	123789927	A	G	A123789927G	DNAH10	NM_207437.3(DNAH10):c.1438A>G:p.Ile480Val	coding	Benign
12	123790078	A	C	A123790078C	DNAH10	NM_001372106.1(DNAH10):c.1772A>C:p.Gln591Pro	coding	Benign
12	123799254	A	G	A123799254G	DNAH10	NM_001372106.1(DNAH10):c.2172A>G:p.Gln724=	coding	Benign
12	123801323	G	T	G123801323T	DNAH10	NM_001372106.1(DNAH10):c.2505G>T:p.Met835Ile	coding	Benign
12	123803666	G	A	G123803666A	DNAH10	NM_001372106.1(DNAH10):c.2620G>A:p.Gly874Ser	coding	Benign
12	123803800	C	T	C123803800T	DNAH10	NM_001372106.1(DNAH10):c.2754C>T:p.Ala918=	coding	Benign
12	123813327	A	G	A123813327G	DNAH10	NM_001372106.1(DNAH10):c.3308A>G:p.Asn1103Ser	coding	Benign
12	123813530	C	T	C123813530T	DNAH10	NM_001372106.1(DNAH10):c.3511C>T:p.His1171Tyr	coding	Benign
12	123813785	A	G	A123813785G	DNAH10	NM_001372106.1(DNAH10):c.3653A>G:p.Asn1218Ser	coding	Benign
12	123819032	A	G	A123819032G	DNAH10	NM_001372106.1(DNAH10):c.3863A>G:p.His1288Arg	coding	Benign
12	123819160	G	A	G123819160A	DNAH10	NM_001372106.1(DNAH10):c.3910G>A:p.Glu1304Lys	coding	Benign
12	123830693	T	A	T123830693A	DNAH10	NM_001372106.1(DNAH10):c.4539T>A:p.Ile1513=	coding	Benign
12	123838464	T	C	T123838464C	DNAH10	NM_001372106.1(DNAH10):c.4911T>C:p.Gly1637=	coding	Benign
12	123838513	C	T	C123838513T	DNAH10	NM_001372106.1(DNAH10):c.4960C>T:p.Arg1654Cys	coding	Benign
12	123838534	G	A	G123838534A	DNAH10	NM_001372106.1(DNAH10):c.4981G>A:p.Val1661Ile	coding	Benign
12	123841430	T	G	T123841430G	DNAH10	NM_207437.3(DNAH10):c.4891T>G:p.Leu1631Val	coding	Benign
12	123845764	C	T	C123845764T	DNAH10	NM_207437.3(DNAH10):c.5171C>T:p.Thr1724Met	coding	Benign
12	123845985	G	A	G123845985A	DNAH10	NM_001372106.1(DNAH10):c.5645G>A:p.Arg1882Gln	coding	Benign
12	123846100	C	T	C123846100T	DNAH10	NM_001372106.1(DNAH10):c.5760C>T:p.Asn1920=	coding	Benign
12	123848765	C	T	C123848765T	DNAH10	NM_001372106.1(DNAH10):c.5985C>T:p.Cys1995=	coding	Benign
12	123848804	T	C	T123848804C	DNAH10	NM_001372106.1(DNAH10):c.6024T>C:p.Asp2008=	coding	Benign
12	123848820	G	A	G123848820A	DNAH10	NM_001372106.1(DNAH10):c.6040G>A:p.Val2014Met	coding	Benign
12	123853225	C	T	C123853225T	DNAH10	NM_207437.3(DNAH10):c.5957C>T:p.Thr1986Met	coding	Benign
12	123857176	C	T	C123857176T	DNAH10	NM_001372106.1(DNAH10):c.6559C>T:p.Arg2187Cys	coding	Benign
12	123859173	C	T	C123859173T	DNAH10	NM_001372106.1(DNAH10):c.6654C>T:p.Phe2218=	coding	Benign
12	123859206	G	C	G123859206C	DNAH10	NM_001372106.1(DNAH10):c.6687G>C:p.Val2229=	coding	Benign
12	123864689	G	C	G123864689C	DNAH10	NM_001372106.1(DNAH10):c.7003G>C:p.Glu2335Gln	coding	Benign
12	123873673	G	A	G123873673A	DNAH10	NM_001372106.1(DNAH10):c.7901G>A:p.Arg2634His	coding	Benign
12	123879682	G	A	G123879682A	DNAH10	NM_001372106.1(DNAH10):c.8515G>A:p.Val2839Met	coding	Benign
12	123879738	C	T	C123879738T	DNAH10	NM_001372106.1(DNAH10):c.8571C>T:p.His2857=	coding	Benign
12	123887137	C	T	C123887137T	DNAH10	NM_001372106.1(DNAH10):c.8824-5C>T	noncoding	Benign
12	123887235	G	A	G123887235A	DNAH10	NM_001372106.1(DNAH10):c.8917G>A:p.Ala2973Thr	coding	Benign
12	123887288	G	A	G123887288A	DNAH10	NM_001372106.1(DNAH10):c.8970G>A:p.Glu2990=	coding	Benign
12	123893238	G	C	G123893238C	DNAH10	NM_001372106.1(DNAH10):c.9001G>C:p.Val3001Leu	coding	Benign
12	123893267	A	G	A123893267G	DNAH10	NM_207437.3(DNAH10):c.8676A>G:p.Lys2892=	coding	Benign
12	123893445	G	A	G123893445A	DNAH10	NM_207437.3(DNAH10):c.8845+9G>A	noncoding	Benign
12	123894692	A	G	A123894692G	DNAH10	NM_001372106.1(DNAH10):c.9249A>G:p.Gln3083=	coding	Benign
12	123894714	T	A	T123894714A	DNAH10	NM_001372106.1(DNAH10):c.9271T>A:p.Ser3091Thr	coding	Benign
12	123898714	C	T	C123898714T	DNAH10	NM_207437.3(DNAH10):c.9186C>T:p.Asp3062=	coding	Benign
12	123898765	C	T	C123898765T	DNAH10	NM_001372106.1(DNAH10):c.9591C>T:p.Ser3197=	coding	Benign
12	123902940	C	T	C123902940T	DNAH10	NM_001372106.1(DNAH10):c.9642C>T:p.Ala3214=	coding	Benign
12	123903027	G	A	G123903027A	DNAH10	NM_207437.3(DNAH10):c.9375G>A:p.Glu3125=	coding	Benign
12	123903039	A	G	A123903039G	DNAH10	NM_207437.3(DNAH10):c.9387A>G:p.Ala3129=	coding	Benign
12	123903122	C	T	C123903122T	DNAH10	NM_207437.3(DNAH10):c.9461+9C>T	noncoding	Benign
12	123909280	A	G	A123909280G	DNAH10	NM_001372106.1(DNAH10):c.9835A>G:p.Lys3279Glu	coding	Benign
12	123909422	G	A	G123909422A	DNAH10	NM_001372106.1(DNAH10):c.9977G>A:p.Ser3326Asn	coding	Benign
12	123910530	C	T	C123910530T	DNAH10	NM_001372106.1(DNAH10):c.9998-6C>T	noncoding	Benign
12	123913304	A	G	A123913304G	DNAH10	NM_001372106.1(DNAH10):c.10341A>G:p.Ser3447=	coding	Benign
12	123914366	G	C	G123914366C	DNAH10	NM_001372106.1(DNAH10):c.10390G>C:p.Val3464Leu	coding	Benign
12	123915003	T	C	T123915003C	DNAH10	NM_207437.3(DNAH10):c.10368+4T>C	noncoding	Benign
12	123916492	G	A	G123916492A	DNAH10	NM_001372106.1(DNAH10):c.10758G>A:p.Gln3586=	coding	Benign
12	123916729	T	C	T123916729C	DNAH10	NM_001372106.1(DNAH10):c.10995T>C:p.Asn3665=	coding	Benign
12	123917658	C	T	C123917658T	DNAH10	NM_001372106.1(DNAH10):c.11077C>T:p.Arg3693Trp	coding	Benign
12	123918952	G	A	G123918952A	DNAH10	NM_001372106.1(DNAH10):c.11506+3G>A	noncoding	Benign
12	123928413	G	A	G123928413A	DNAH10	NM_001372106.1(DNAH10):c.12132G>A:p.Ala4044=	coding	Benign
12	123929711	A	G	A123929711G	DNAH10	NM_001372106.1(DNAH10):c.12564A>G:p.Gln4188=	coding	Benign
12	123933342	C	T	C123933342T	DNAH10	NM_207437.3(DNAH10):c.12954C>T:p.Ser4318=	coding	Benign
12	123933426	C	T	C123933426T	DNAH10	NM_207437.3(DNAH10):c.13038C>T:p.Asn4346=	coding	Benign
12	123933442	C	T	C123933442T	DNAH10	NM_001372106.1(DNAH10):c.13408C>T:p.Arg4470Cys	coding	Benign
12	123935424	G	A	G123935424A	DNAH10	NM_001372106.1(DNAH10):c.13713G>A:p.Thr4571=	coding	Benign
12	124800125	G	A	G124800125A	SCARB1	NM_005505.5(SCARB1):c.1127C>T:p.Pro376Leu	coding	Pathogenic
12	124863658	G	A	G124863658A	SCARB1	NM_005505.5(SCARB1):c.63C>T:p.Cys21=	coding	Benign
12	124911942	T	C	T124911942C	UBC	NM_021009.7(UBC):c.1830A>G:p.Gln610=	coding	Benign
12	124912515	G	A	G124912515A	UBC	NM_021009.7(UBC):c.1257C>T:p.Asp419=	coding	Benign
12	124912698	A	G	A124912698G	UBC	NM_021009.7(UBC):c.1074T>C:p.Arg358=	coding	Benign
12	124952518	C	A	C124952518A	DHX37	NM_032656.4(DHX37):c.2748G>T:p.Pro916=	coding	Benign
12	124956777	T	G	T124956777G	DHX37	NM_032656.4(DHX37):c.2367A>C:p.Ala789=	coding	Benign
12	124957102	C	T	C124957102T	DHX37	NM_032656.4(DHX37):c.2191G>A:p.Val731Met	coding	Pathogenic/Likely_pathogenic
12	124964418	C	T	C124964418T	DHX37	NM_032656.4(DHX37):c.2021G>A:p.Arg674Gln	coding	Pathogenic
12	124964419	G	A	G124964419A	DHX37	NM_032656.4(DHX37):c.2020C>T:p.Arg674Trp	coding	Pathogenic
12	124964958	G	A	G124964958A	DHX37	NM_032656.4(DHX37):c.1784C>T:p.Ser595Phe	coding	Pathogenic
12	124966859	T	G	T124966859G	DHX37	NM_032656.4(DHX37):c.1524A>C:p.Lys508Asn	coding	Benign
12	124968543	G	A	G124968543A	DHX37	NM_032656.4(DHX37):c.1399C>T:p.Leu467=	coding	Pathogenic
12	124975476	C	T	C124975476T	DHX37	NM_032656.4(DHX37):c.923G>A:p.Arg308Gln	coding	Pathogenic
12	124975488	G	A	G124975488A	DHX37	NM_032656.4(DHX37):c.911C>T:p.Thr304Met	coding	Pathogenic
12	124977333	A	G	A124977333G	DHX37	NM_032656.4(DHX37):c.887+9T>C	noncoding	Benign
12	124977398	G	A	G124977398A	DHX37	NM_032656.4(DHX37):c.831C>T:p.Thr277=	coding	Benign
12	124980514	G	A	G124980514A	DHX37	NM_032656.4(DHX37):c.714C>T:p.Pro238=	coding	Benign
12	124980563	G	C	G124980563C	DHX37	NM_032656.4(DHX37):c.665C>G:p.Ala222Gly	coding	Benign
12	124980722	G	A	G124980722A	DHX37	NM_032656.4(DHX37):c.506C>T:p.Ser169Leu	coding	Benign
12	124982622	C	T	C124982622T	DHX37	NM_032656.4(DHX37):c.278G>A:p.Arg93Gln	coding	Pathogenic/Likely_pathogenic
12	124988981	C	T	C124988981T	DHX37	NM_032656.4(DHX37):c.42G>A:p.Gln14=	coding	Benign
12	125076572	C	A	C125076572A	AACS	NM_023928.5(AACS):c.319C>A:p.Arg107=	coding	Benign
12	125107181	C	T	C125107181T	AACS	NM_023928.5(AACS):c.828C>T:p.Phe276=	coding	Benign
12	125125005	C	T	C125125005T	AACS	NM_023928.5(AACS):c.1290C>T:p.Ile430=	coding	Benign
12	125134836	G	A	G125134836A	AACS	NM_023928.5(AACS):c.1662G>A:p.Ser554=	coding	Benign
12	125136673	G	C	G125136673C	AACS	NM_023928.5(AACS):c.1690G>C:p.Glu564Gln	coding	Benign
12	125136872	C	G	C125136872G	AACS	NM_023928.5(AACS):c.1881+8C>G	noncoding	Benign
12	125652514	C	T	C125652514T	TMEM132B	NM_052907.3(TMEM132B):c.1973C>T:p.Ala658Val	coding	Benign
12	128415340	G	A	G128415340A	TMEM132C	NM_001136103.2(TMEM132C):c.694G>A:p.Val232Met	coding	Benign
12	128982985	C	T	C128982985T	GLT1D1	NM_144669.3(GLT1D1):c.696C>T:p.Ile232=	coding	Benign
12	129073992	G	A	G129073992A	TMEM132D	NM_133448.3(TMEM132D):c.3183C>T:p.Thr1061=	coding	Benign
12	129074683	G	A	G129074683A	TMEM132D	NM_133448.3(TMEM132D):c.2492C>T:p.Ser831Leu	coding	Benign
12	129209661	C	T	C129209661T	TMEM132D	NM_133448.3(TMEM132D):c.1302G>A:p.Glu434=	coding	Benign
12	129700049	G	A	G129700049A	TMEM132D	NM_133448.3(TMEM132D):c.729C>T:p.Asp243=	coding	Benign
12	129700424	T	C	T129700424C	TMEM132D	NM_133448.3(TMEM132D):c.354A>G:p.Gly118=	coding	Benign
12	129700509	A	T	A129700509T	TMEM132D	NM_133448.3(TMEM132D):c.269T>A:p.Leu90Gln	coding	Benign
12	130801294	G	A	G130801294A	STX2	NM_194356.4(STX2):c.538-4C>T	noncoding	Benign
12	130808702	T	C	T130808702C	STX2	NM_194356.4(STX2):c.283A>G:p.Ile95Val	coding	Benign
12	130821680	A	G	A130821680G	STX2	NM_194356.4(STX2):c.205+9T>C	noncoding	Benign
12	130873046	C	T	C130873046T	RAN	NM_006325.5(RAN):c.165C>T:p.Asn55=	coding	Benign
12	131840747	C	A	C131840747A	MMP17	NM_016155.7(MMP17):c.597C>A:p.Pro199=	coding	Benign
12	131841661	C	T	C131841661T	MMP17	NM_016155.7(MMP17):c.744C>T:p.His248=	coding	Benign
12	131841736	G	A	G131841736A	MMP17	NM_016155.7(MMP17):c.819G>A:p.Pro273=	coding	Benign
12	131849915	A	G	A131849915G	MMP17	NM_016155.7(MMP17):c.1318A>G:p.Asn440Asp	coding	Benign
12	131909219	G	A	G131909219A	ULK1	NM_003565.4(ULK1):c.648G>A:p.Thr216=	coding	Benign
12	131914459	C	G	C131914459G	ULK1	NM_003565.4(ULK1):c.1355C>G:p.Thr452Ser	coding	Benign
12	131916003	C	G	C131916003G	ULK1	NM_003565.4(ULK1):c.1722C>G:p.Pro574=	coding	Benign
12	131916069	G	A	G131916069A	ULK1	NM_003565.4(ULK1):c.1788G>A:p.Leu596=	coding	Benign
12	131916513	C	T	C131916513T	ULK1	NM_003565.4(ULK1):c.1994C>T:p.Ser665Leu	coding	Benign
12	131917408	C	T	C131917408T	ULK1	NM_003565.4(ULK1):c.2183-3C>T	noncoding	Benign
12	131917499	C	A	C131917499A	ULK1	NM_003565.4(ULK1):c.2271C>A:p.Gly757=	coding	Benign
12	131919556	C	T	C131919556T	ULK1	NM_003565.4(ULK1):c.2769C>T:p.Ala923=	coding	Benign
12	131919565	C	T	C131919565T	ULK1	NM_003565.4(ULK1):c.2778C>T:p.Leu926=	coding	Benign
12	131920046	G	A	G131920046A	ULK1	NM_003565.4(ULK1):c.2871G>A:p.Leu957=	coding	Benign
12	131920071	C	A	C131920071A	ULK1	NM_003565.4(ULK1):c.2896C>A:p.Arg966=	coding	Benign
12	131929165	C	G	C131929165G	PUS1	NC_000012.12:g.131929165C>G	noncoding	Benign
12	131929541	C	T	C131929541T	PUS1	NM_025215.6(PUS1):c.-182C>T	noncoding	Benign
12	131929744	C	T	C131929744T	PUS1	NM_025215.6(PUS1):c.22C>T:p.Leu8=	coding	Benign
12	131929887	C	T	C131929887T	PUS1	NM_025215.6(PUS1):c.75-20C>T	noncoding	Benign
12	131929942	C	G	C131929942G	PUS1	NM_025215.6(PUS1):c.110C>G:p.Pro37Arg	coding	Benign
12	131930133	C	T	C131930133T	PUS1	NM_025215.6(PUS1):c.301C>T:p.Gln101Ter	coding	Pathogenic
12	131932216	C	T	C131932216T	PUS1	NM_025215.6(PUS1):c.345C>T:p.Asp115=	coding	Benign
12	131932235	C	A	C131932235A	PUS1	NM_025215.6(PUS1):c.364C>A:p.Arg122=	coding	Benign/Likely_benign
12	131932268	G	A	G131932268A	PUS1	NM_025215.6(PUS1):c.397G>A:p.Asp133Asn	coding	Benign/Likely_benign
12	131932301	C	T	C131932301T	PUS1	NM_025215.6(PUS1):c.430C>T:p.Arg144Trp	coding	Pathogenic
12	131939187	C	G	C131939187G	PUS1	NM_025215.6(PUS1):c.456C>G:p.Ala152=	coding	Benign/Likely_benign
12	131941368	G	A	G131941368A	PUS1	NM_025215.6(PUS1):c.621G>A:p.Thr207=	coding	Benign/Likely_benign
12	131941405	G	T	G131941405T	PUS1	NM_025215.6(PUS1):c.658G>T:p.Glu220Ter	coding	Pathogenic
12	131941548	C	G	C131941548G	PUS1	NM_025215.6(PUS1):c.801C>G:p.Tyr267Ter	coding	Pathogenic
12	131941630	C	T	C131941630T	PUS1	NM_025215.6(PUS1):c.883C>T:p.Arg295Trp	coding	Pathogenic
12	131941641	C	T	C131941641T	PUS1	NM_025215.6(PUS1):c.894C>T:p.Val298=	coding	Benign/Likely_benign
12	131941746	G	C	G131941746C	PUS1	NM_025215.6(PUS1):c.999G>C:p.Leu333=	coding	Benign/Likely_benign
12	131941767	C	T	C131941767T	PUS1	NM_025215.6(PUS1):c.1020C>T:p.Phe340=	coding	Benign/Likely_benign
12	131941869	C	G	C131941869G	PUS1	NM_025215.6(PUS1):c.1122C>G:p.Tyr374Ter	coding	Pathogenic
12	131941944	C	T	C131941944T	PUS1	NM_025215.6(PUS1):c.1197C>T:p.Phe399=	coding	Benign/Likely_benign
12	131941968	T	G	T131941968G	PUS1	NM_025215.6(PUS1):c.1221T>G:p.Gly407=	coding	Benign
12	131943296	G	A	G131943296A	PUS1	NM_025215.6(PUS1):c.1237-243G>A	noncoding	Benign
12	131943364	A	G	A131943364G	PUS1	NM_025215.6(PUS1):c.1237-175A>G	noncoding	Benign
12	131943602	C	T	C131943602T	PUS1	NM_025215.6(PUS1):c.*16C>T	noncoding	Benign
12	131943794	T	C	T131943794C	PUS1	NM_025215.6(PUS1):c.*208T>C	noncoding	Benign
12	131943839	G	C	G131943839C	PUS1	NM_025215.6(PUS1):c.*253G>C	noncoding	Benign
12	131960853	C	T	C131960853T	EP400	NM_015409.5(EP400):c.234C>T:p.Ser78=	coding	Benign
12	131960876	A	G	A131960876G	EP400	NM_015409.5(EP400):c.257A>G:p.Asn86Ser	coding	Benign
12	131960991	G	A	G131960991A	EP400	NM_015409.5(EP400):c.372G>A:p.Thr124=	coding	Benign
12	131979801	G	A	G131979801A	EP400	NM_015409.5(EP400):c.1435+8G>A	noncoding	Benign
12	131981508	C	T	C131981508T	EP400	NM_015409.5(EP400):c.1455C>T:p.Arg485=	coding	Benign
12	131982290	C	A	C131982290A	EP400	NM_015409.5(EP400):c.1741C>A:p.Pro581Thr	coding	Benign
12	131982291	C	T	C131982291T	EP400	NM_015409.5(EP400):c.1742C>T:p.Pro581Leu	coding	Benign
12	131982328	G	A	G131982328A	EP400	NM_015409.5(EP400):c.1779G>A:p.Pro593=	coding	Benign
12	132006215	C	T	C132006215T	EP400	NM_015409.5(EP400):c.3039C>T:p.Ile1013=	coding	Benign
12	132020094	C	T	C132020094T	EP400	NM_015409.5(EP400):c.4323C>T:p.Thr1441=	coding	Benign
12	132025766	C	T	C132025766T	EP400	NM_015409.5(EP400):c.4976C>T:p.Pro1659Leu	coding	Benign
12	132025767	G	A	G132025767A	EP400	NM_015409.5(EP400):c.4977G>A:p.Pro1659=	coding	Benign
12	132027525	G	A	G132027525A	EP400	NM_015409.5(EP400):c.5103G>A:p.Pro1701=	coding	Benign
12	132028047	C	T	C132028047T	EP400	NM_015409.5(EP400):c.5140C>T:p.Leu1714=	coding	Benign
12	132028115	A	G	A132028115G	EP400	NM_015409.5(EP400):c.5208A>G:p.Leu1736=	coding	Benign
12	132028199	G	A	G132028199A	EP400	NM_015409.5(EP400):c.5292G>A:p.Ala1764=	coding	Benign
12	132029755	G	A	G132029755A	EP400	NM_015409.5(EP400):c.5436G>A:p.Pro1812=	coding	Benign
12	132044179	C	T	C132044179T	EP400	NM_015409.5(EP400):c.6453C>T:p.Asp2151=	coding	Benign
12	132044823	G	A	G132044823A	EP400	NM_015409.5(EP400):c.6654G>A:p.Pro2218=	coding	Benign
12	132045467	C	T	C132045467T	EP400	NM_015409.5(EP400):c.6933C>T:p.Phe2311=	coding	Benign
12	132045718	C	T	C132045718T	EP400	NM_015409.5(EP400):c.7027-9C>T	noncoding	Benign
12	132053167	G	A	G132053167A	EP400	NM_015409.5(EP400):c.7416G>A:p.Pro2472=	coding	Benign
12	132055000	T	G	T132055000G	EP400	NM_015409.5(EP400):c.7755T>G:p.Thr2585=	coding	Benign
12	132062130	C	T	C132062130T	EP400	NM_015409.5(EP400):c.7905C>T:p.Pro2635=	coding	Benign
12	132062551	G	A	G132062551A	EP400	NM_015409.5(EP400):c.8184G>A:p.Gln2728=	coding	Benign
12	132064718	C	T	C132064718T	EP400	NM_015409.5(EP400):c.8385C>T:p.Pro2795=	coding	Benign
12	132064748	G	A	G132064748A	EP400	NM_015409.5(EP400):c.8415G>A:p.Pro2805=	coding	Benign
12	132064817	G	A	G132064817A	EP400	NM_015409.5(EP400):c.8484G>A:p.Thr2828=	coding	Benign
12	132064850	G	A	G132064850A	EP400	NM_015409.5(EP400):c.8517G>A:p.Thr2839=	coding	Benign
12	132077427	G	A	G132077427A	EP400	NM_015409.5(EP400):c.9126G>A:p.Thr3042=	coding	Benign
12	132077439	G	A	G132077439A	EP400	NM_015409.5(EP400):c.9138G>A:p.Ala3046=	coding	Benign
12	132077535	G	A	G132077535A	EP400	NM_015409.5(EP400):c.9234G>A:p.Ser3078=	coding	Benign
12	132142295	G	A	G132142295A	DDX51	NM_175066.4(DDX51):c.798C>T:p.Phe266=	coding	Benign
12	132583652	G	C	G132583652C	FBRSL1	NM_001142641.2(FBRSL1):c.3012G>C:p.Thr1004=	coding	Benign
12	132618781	T	C	T132618781C	P2RX2	NM_170682.4(P2RX2):c.-36T>C	noncoding	Benign
12	132618825	C	T	C132618825T	P2RX2	NM_170682.4(P2RX2):c.9C>T:p.Ala3=	coding	Benign
12	132618858	C	T	C132618858T	P2RX2	NM_170682.4(P2RX2):c.42C>T:p.Ala14=	coding	Benign
12	132618878	G	A	G132618878A	P2RX2	NM_170682.4(P2RX2):c.62G>A:p.Cys21Tyr	coding	Benign
12	132619435	G	T	G132619435T	P2RX2	NM_170682.4(P2RX2):c.174-4G>T	noncoding	Benign/Likely_benign
12	132619443	G	T	G132619443T	P2RX2	NM_170682.4(P2RX2):c.178G>T:p.Val60Leu	coding	Pathogenic
12	132619451	C	T	C132619451T	P2RX2	NM_170682.4(P2RX2):c.186C>T:p.Ile62=	coding	Benign
12	132619888	C	A	C132619888A	P2RX2	NM_170682.4(P2RX2):c.426C>A:p.Cys142Ter	coding	Benign
12	132620010	T	C	T132620010C	P2RX2	NM_170682.4(P2RX2):c.468T>C:p.Thr156=	coding	Benign
12	132620033	A	G	A132620033G	P2RX2	NM_170682.4(P2RX2):c.491A>G:p.Gln164Arg	coding	Benign/Likely_benign
12	132620110	C	A	C132620110A	P2RX2	NM_170682.4(P2RX2):c.554+14C>A	noncoding	Benign/Likely_benign
12	132620432	G	A	G132620432A	P2RX2	NM_170682.4(P2RX2):c.636-13G>A	noncoding	Benign
12	132620508	C	T	C132620508T	P2RX2	NM_170682.4(P2RX2):c.699C>T:p.Asp233=	coding	Benign
12	132620590	C	G	C132620590G	P2RX2	NM_170682.4(P2RX2):c.774+7C>G	noncoding	Benign
12	132621057	G	A	G132621057A	P2RX2	NM_170682.4(P2RX2):c.831G>A:p.Ser277=	coding	Benign
12	132621313	G	A	G132621313A	P2RX2	NM_170682.4(P2RX2):c.964G>A:p.Gly322Arg	coding	Benign
12	132621535	G	A	G132621535A	P2RX2	NM_170682.4(P2RX2):c.1057G>A:p.Gly353Arg	coding	Pathogenic
12	132621535	G	C	G132621535C	P2RX2	NM_170682.4(P2RX2):c.1057G>C:p.Gly353Arg	coding	Pathogenic
12	132621858	G	A	G132621858A	P2RX2	NM_170682.4(P2RX2):c.1302G>A:p.Pro434=	coding	Benign
12	132621888	T	A	T132621888A	P2RX2	NM_170682.4(P2RX2):c.1332T>A:p.Pro444=	coding	Benign
12	132621919	G	A	G132621919A	P2RX2	NM_170682.4(P2RX2):c.1363G>A:p.Glu455Lys	coding	Benign/Likely_benign
12	132624727	C	A	C132624727A	POLE	NM_006231.3(POLE):c.6831G>T:p.Leu2277=	coding	Benign/Likely_benign
12	132624738	G	C	G132624738C	POLE	NM_006231.3(POLE):c.6820C>G:p.Leu2274Val	coding	Benign/Likely_benign
12	132624741	T	A	T132624741A	POLE	NM_006231.3(POLE):c.6817A>T:p.Thr2273Ser	coding	Benign/Likely_benign
12	132624763	G	A	G132624763A	POLE	NM_006231.3(POLE):c.6795C>T:p.Tyr2265=	coding	Benign/Likely_benign
12	132624781	C	A	C132624781A	POLE	NM_006231.3(POLE):c.6777G>T:p.Arg2259=	coding	Benign/Likely_benign
12	132624792	C	T	C132624792T	POLE	NM_006231.3(POLE):c.6766G>A:p.Gly2256Arg	coding	Benign/Likely_benign
12	132624795	T	A	T132624795A	POLE	NM_006231.3(POLE):c.6763A>T:p.Ile2255Phe	coding	Benign/Likely_benign
12	132624938	G	A	G132624938A	POLE	NM_006231.3(POLE):c.6714C>T:p.Cys2238=	coding	Benign/Likely_benign
12	132624977	G	A	G132624977A	POLE	NM_006231.3(POLE):c.6675C>T:p.Arg2225=	coding	Benign/Likely_benign
12	132625194	G	A	G132625194A	POLE	NM_006231.3(POLE):c.6658-200C>T	noncoding	Benign
12	132625629	G	A	G132625629A	POLE	NM_006231.4(POLE):c.6657+16C>T	noncoding	Benign
12	132625636	A	G	A132625636G	POLE	NM_006231.3(POLE):c.6657+9T>C	noncoding	Benign/Likely_benign
12	132625705	G	A	G132625705A	POLE	NM_006231.3(POLE):c.6597C>T:p.Ile2199=	coding	Benign/Likely_benign
12	132625726	C	T	C132625726T	POLE	NM_006231.3(POLE):c.6576G>A:p.Ala2192=	coding	Benign/Likely_benign
12	132626153	G	A	G132626153A	POLE	NM_006231.3(POLE):c.6495C>T:p.Arg2165=	coding	Benign/Likely_benign
12	132626154	C	T	C132626154T	POLE	NM_006231.3(POLE):c.6494G>A:p.Arg2165His	coding	Benign/Likely_benign
12	132626230	C	T	C132626230T	POLE	NM_006231.3(POLE):c.6418G>A:p.Glu2140Lys	coding	Benign/Likely_benign
12	132626243	G	A	G132626243A	POLE	NM_006231.3(POLE):c.6405C>T:p.Val2135=	coding	Benign/Likely_benign
12	132626325	G	A	G132626325A	POLE	NM_006231.4(POLE):c.6331-8C>T	noncoding	Benign/Likely_benign
12	132632296	C	T	C132632296T	POLE	NM_006231.3(POLE):c.6330+19G>A	noncoding	Benign
12	132632297	G	A	G132632297A	POLE	NM_006231.3(POLE):c.6330+18C>T	noncoding	Benign
12	132632300	C	T	C132632300T	POLE	NM_006231.4(POLE):c.6330+15G>A	noncoding	Benign
12	132632393	T	C	T132632393C	POLE	NM_006231.4(POLE):c.6252A>G:p.Ser2084=	coding	Benign
12	132633007	T	C	T132633007C	POLE	NM_006231.3(POLE):c.6005-212A>G	noncoding	Benign
12	132634399	C	T	C132634399T	POLE	NM_006231.3(POLE):c.5812-21G>A	noncoding	Benign
12	132634501	C	T	C132634501T	POLE	NM_006231.3(POLE):c.5812-123G>A	noncoding	Benign
12	132635876	A	G	A132635876G	POLE	NM_006231.3(POLE):c.5811+16T>C	noncoding	Benign/Likely_benign
12	132635879	G	A	G132635879A	POLE	NM_006231.3(POLE):c.5811+13C>T	noncoding	Benign/Likely_benign
12	132635899	C	T	C132635899T	POLE	NM_006231.3(POLE):c.5804G>A:p.Cys1935Tyr	coding	Benign
12	132635996	G	A	G132635996A	POLE	NM_006231.4(POLE):c.5707C>T:p.Leu1903=	coding	Benign
12	132636106	T	C	T132636106C	POLE	NM_006231.3(POLE):c.5679-82A>G	noncoding	Benign
12	132636151	C	T	C132636151T	POLE	NM_006231.3(POLE):c.5679-127G>A	noncoding	Benign
12	132637936	G	C	G132637936C	POLE	NM_006231.3(POLE):c.5678+78C>G	noncoding	Benign
12	132638010	G	A	G132638010A	POLE	NM_006231.3(POLE):c.5678+4C>T	noncoding	Benign
12	132638109	T	G	T132638109G	POLE	NM_006231.3(POLE):c.5583A>C:p.Ser1861=	coding	Benign/Likely_benign
12	132638122	T	C	T132638122C	POLE	NM_006231.3(POLE):c.5570A>G:p.Lys1857Arg	coding	Benign/Likely_benign
12	132638182	A	G	A132638182G	POLE	NM_006231.3(POLE):c.5553-43T>C	noncoding	Benign
12	132639181	A	G	A132639181G	POLE	NM_006231.3(POLE):c.5496T>C:p.Leu1832=	coding	Benign/Likely_benign
12	132639199	C	A	C132639199A	POLE	NM_006231.3(POLE):c.5478G>T:p.Arg1826=	coding	Benign/Likely_benign
12	132641691	G	A	G132641691A	POLE	NM_006231.3(POLE):c.5334C>T:p.Ala1778=	coding	Benign
12	132642215	G	A	G132642215A	POLE	NM_006231.3(POLE):c.5135C>T:p.Ala1712Val	coding	Benign/Likely_benign
12	132642226	G	A	G132642226A	POLE	NM_006231.3(POLE):c.5124C>T:p.Phe1708=	coding	Benign/Likely_benign
12	132642517	G	A	G132642517A	POLE	NM_006231.3(POLE):c.4941C>T:p.Phe1647=	coding	Benign/Likely_benign
12	132642829	G	A	G132642829A	POLE	NM_006231.3(POLE):c.4719C>T:p.Leu1573=	coding	Benign/Likely_benign
12	132642903	G	C	G132642903C	POLE	NM_006231.3(POLE):c.4645C>G:p.Pro1549Ala	coding	Benign/Likely_benign
12	132642993	G	A	G132642993A	POLE	NM_006231.3(POLE):c.4555C>T:p.Arg1519Cys	coding	Benign
12	132643006	C	A	C132643006A	POLE	NM_006231.3(POLE):c.4552-10G>T	noncoding	Benign
12	132643245	T	C	T132643245C	POLE	NM_006231.4(POLE):c.4530A>G:p.Ala1510=	coding	Benign
12	132643281	C	T	C132643281T	POLE	NM_006231.3(POLE):c.4494G>A:p.Ala1498=	coding	Benign/Likely_benign
12	132643363	G	A	G132643363A	POLE	NM_006231.3(POLE):c.4445-33C>T	noncoding	Benign
12	132643403	A	T	A132643403T	POLE	NM_006231.3(POLE):c.4444+4T>A	noncoding	Benign
12	132643832	G	A	G132643832A	POLE	NM_006231.3(POLE):c.4290+5C>T	noncoding	Benign
12	132643868	G	A	G132643868A	POLE	NM_006231.3(POLE):c.4259C>T:p.Ala1420Val	coding	Benign/Likely_benign
12	132643882	G	A	G132643882A	POLE	NM_006231.3(POLE):c.4245C>T:p.Asn1415=	coding	Benign/Likely_benign
12	132643891	G	A	G132643891A	POLE	NM_006231.3(POLE):c.4236C>T:p.Asn1412=	coding	Benign/Likely_benign
12	132643940	T	C	T132643940C	POLE	NM_006231.4(POLE):c.4187A>G:p.Asn1396Ser	coding	Benign
12	132644084	G	A	G132644084A	POLE	NM_006231.3(POLE):c.4150-107C>T	noncoding	Benign
12	132648777	G	A	G132648777A	POLE	NM_006231.3(POLE):c.4149+152C>T	noncoding	Benign
12	132649031	C	T	C132649031T	POLE	NM_006231.3(POLE):c.4047G>A:p.Ala1349=	coding	Benign/Likely_benign
12	132649378	A	G	A132649378G	POLE	NM_006231.3(POLE):c.3933T>C:p.Pro1311=	coding	Benign/Likely_benign
12	132649573	T	C	T132649573C	POLE	NM_006231.3(POLE):c.3796-58A>G	noncoding	Benign
12	132649725	C	T	C132649725T	POLE	NM_006231.3(POLE):c.3747G>A:p.Val1249=	coding	Benign/Likely_benign
12	132649857	C	T	C132649857T	POLE	NM_006231.3(POLE):c.3615G>A:p.Pro1205=	coding	Benign/Likely_benign
12	132657119	T	C	T132657119C	POLE	NM_006231.3(POLE):c.3582+17A>G	noncoding	Benign
12	132657434	A	G	A132657434G	POLE	NM_006231.4(POLE):c.3379-5T>C	noncoding	Benign
12	132657858	T	C	T132657858C	POLE	NM_006231.3(POLE):c.3378+10A>G	noncoding	Benign/Likely_benign
12	132657861	C	A	C132657861A	POLE	NM_006231.3(POLE):c.3378+7G>T	noncoding	Benign/Likely_benign
12	132659279	T	C	T132659279C	POLE	NM_006231.3(POLE):c.3275+16A>G	noncoding	Benign/Likely_benign
12	132659414	C	T	C132659414T	POLE	NM_006231.4(POLE):c.3156G>A:p.Thr1052=	coding	Benign
12	132659444	C	T	C132659444T	POLE	NM_006231.3(POLE):c.3126G>A:p.Lys1042=	coding	Benign
12	132659480	G	A	G132659480A	POLE	NM_006231.3(POLE):c.3090C>T:p.Phe1030=	coding	Benign/Likely_benign
12	132660780	G	A	G132660780A	POLE	NM_006231.3(POLE):c.3060+189C>T	noncoding	Benign
12	132661047	G	A	G132661047A	POLE	NM_006231.3(POLE):c.2982C>T:p.Leu994=	coding	Benign/Likely_benign
12	132661094	G	A	G132661094A	POLE	NM_006231.3(POLE):c.2935C>T:p.Leu979=	coding	Benign/Likely_benign
12	132661101	G	A	G132661101A	POLE	NM_006231.3(POLE):c.2928C>T:p.Arg976=	coding	Benign/Likely_benign
12	132661143	G	A	G132661143A	POLE	NM_006231.3(POLE):c.2886C>T:p.Asp962=	coding	Benign/Likely_benign
12	132661610	G	A	G132661610A	POLE	NM_006231.3(POLE):c.2781C>T:p.Asn927=	coding	Benign/Likely_benign
12	132664364	A	G	A132664364G	POLE	NM_006231.3(POLE):c.2561+6T>C	noncoding	Benign/Likely_benign
12	132664381	G	A	G132664381A	POLE	NM_006231.3(POLE):c.2550C>T:p.Ile850=	coding	Benign
12	132664477	C	T	C132664477T	POLE	NM_006231.3(POLE):c.2469-15G>A	noncoding	Benign
12	132664689	G	A	G132664689A	POLE	NM_006231.3(POLE):c.2469-227C>T	noncoding	Benign
12	132665292	G	A	G132665292A	POLE	NM_006231.3(POLE):c.2468+10C>T	noncoding	Benign/Likely_benign
12	132665430	C	T	C132665430T	POLE	NM_006231.3(POLE):c.2340G>A:p.Ser780=	coding	Benign
12	132665463	T	C	T132665463C	POLE	NM_006231.3(POLE):c.2320-13A>G	noncoding	Benign
12	132667551	G	A	G132667551A	POLE	NM_006231.3(POLE):c.2271C>T:p.Thr757=	coding	Benign/Likely_benign
12	132667560	G	A	G132667560A	POLE	NM_006231.3(POLE):c.2262C>T:p.Tyr754=	coding	Benign/Likely_benign
12	132667656	C	T	C132667656T	POLE	NM_006231.4(POLE):c.2174-8G>A	noncoding	Benign/Likely_benign
12	132668423	C	A	C132668423A	POLE	NM_006231.3(POLE):c.2106G>T:p.Gly702=	coding	Benign/Likely_benign
12	132668440	G	A	G132668440A	POLE	NM_006231.3(POLE):c.2089C>T:p.Pro697Ser	coding	Benign/Likely_benign
12	132668446	A	T	A132668446T	POLE	NM_006231.3(POLE):c.2083T>A:p.Phe695Ile	coding	Benign
12	132668563	A	G	A132668563G	POLE	NM_006231.3(POLE):c.2027-61T>C	noncoding	Benign
12	132668626	G	A	G132668626A	POLE	NM_006231.3(POLE):c.2026+9C>T	noncoding	Benign/Likely_benign
12	132668743	A	G	A132668743G	POLE	NM_006231.3(POLE):c.1924-6T>C	noncoding	Benign/Likely_benign
12	132672228	G	A	G132672228A	POLE	NM_006231.3(POLE):c.1781C>T:p.Thr594Ile	coding	Benign/Likely_benign
12	132672269	G	A	G132672269A	POLE	NM_006231.3(POLE):c.1740C>T:p.His580=	coding	Benign/Likely_benign
12	132672595	G	C	G132672595C	POLE	NM_006231.3(POLE):c.1686+32C>G	noncoding	Pathogenic
12	132672753	T	C	T132672753C	POLE	NM_006231.3(POLE):c.1560A>G:p.Gln520=	coding	Benign/Likely_benign
12	132673167	G	A	G132673167A	POLE	NM_006231.3(POLE):c.1470C>T:p.Asp490=	coding	Benign/Likely_benign
12	132673232	G	A	G132673232A	POLE	NM_006231.3(POLE):c.1405C>T:p.Leu469=	coding	Benign/Likely_benign
12	132673283	G	A	G132673283A	POLE	NM_006231.3(POLE):c.1360-6C>T	noncoding	Benign/Likely_benign
12	132673557	G	A	G132673557A	POLE	NM_006231.3(POLE):c.1359+18C>T	noncoding	Benign/Likely_benign
12	132673566	C	T	C132673566T	POLE	NM_006231.3(POLE):c.1359+9G>A	noncoding	Benign/Likely_benign
12	132673611	C	T	C132673611T	POLE	NM_006231.3(POLE):c.1323G>A:p.Pro441=	coding	Benign
12	132673664	G	C	G132673664C	POLE	NM_006231.3(POLE):c.1270C>G:p.Leu424Val	coding	Pathogenic
12	132673856	A	G	A132673856G	POLE	NM_006231.3(POLE):c.1227-149T>C	noncoding	Benign
12	132675353	G	A	G132675353A	POLE	NM_006231.3(POLE):c.1226+45C>T	noncoding	Benign
12	132675728	G	T	G132675728T	POLE	NM_006231.3(POLE):c.1106+7C>A	noncoding	Benign/Likely_benign
12	132675970	T	C	T132675970C	POLE	NM_006231.3(POLE):c.1020+124A>G	noncoding	Benign
12	132676107	T	C	T132676107C	POLE	NM_006231.3(POLE):c.1007A>G:p.Asn336Ser	coding	Benign/Likely_benign
12	132676210	C	G	C132676210G	POLE	NM_006231.4(POLE):c.910-6G>C	noncoding	Benign
12	132676361	T	C	T132676361C	POLE	NM_006231.3(POLE):c.910-157A>G	noncoding	Benign
12	132676609	G	A	G132676609A	POLE	NM_006231.3(POLE):c.846C>T:p.Pro282=	coding	Benign/Likely_benign
12	132676724	A	G	A132676724G	POLE	NM_006231.3(POLE):c.802-71T>C	noncoding	Benign
12	132677285	T	C	T132677285C	POLE	NM_006231.3(POLE):c.801+78A>G	noncoding	Benign
12	132677385	C	T	C132677385T	POLE	NM_006231.3(POLE):c.779G>A:p.Arg260Gln	coding	Benign/Likely_benign
12	132677388	C	T	C132677388T	POLE	NM_006231.3(POLE):c.776G>A:p.Arg259His	coding	Benign/Likely_benign
12	132677390	G	C	G132677390C	POLE	NM_006231.3(POLE):c.774C>G:p.Thr258=	coding	Benign/Likely_benign
12	132677409	G	A	G132677409A	POLE	NM_006231.3(POLE):c.755C>T:p.Ala252Val	coding	Benign
12	132677497	T	C	T132677497C	POLE	NM_006231.3(POLE):c.721-54A>G	noncoding	Benign
12	132677580	C	G	C132677580G	POLE	NM_006231.3(POLE):c.718G>C:p.Val240Leu	coding	Benign/Likely_benign
12	132679514	G	A	G132679514A	POLE	NM_006231.3(POLE):c.561C>T:p.Tyr187=	coding	Benign/Likely_benign
12	132679520	G	A	G132679520A	POLE	NM_006231.3(POLE):c.555C>T:p.Asp185=	coding	Benign/Likely_benign
12	132679529	G	A	G132679529A	POLE	NM_006231.3(POLE):c.546C>T:p.His182=	coding	Benign/Likely_benign
12	132679556	G	A	G132679556A	POLE	NM_006231.3(POLE):c.519C>T:p.Ala173=	coding	Benign/Likely_benign
12	132680318	C	T	C132680318T	POLE	NM_006231.3(POLE):c.286-96G>A	noncoding	Benign
12	132680685	G	A	G132680685A	POLE	NM_006231.3(POLE):c.207C>T:p.Thr69=	coding	Benign/Likely_benign
12	132681219	C	T	C132681219T	POLE	NM_006231.3(POLE):c.123G>A:p.Thr41=	coding	Benign/Likely_benign
12	132681251	C	A	C132681251A	POLE	NM_006231.3(POLE):c.91G>T:p.Ala31Ser	coding	Benign
12	132681258	T	A	T132681258A	POLE	NM_006231.3(POLE):c.84A>T:p.Ser28=	coding	Benign/Likely_benign
12	132687157	A	C	A132687157C	POLE	NM_006231.3(POLE):c.62+97T>G	noncoding	Benign
12	132687239	G	A	G132687239A	POLE	NM_006231.4(POLE):c.62+15C>T	noncoding	Benign
12	132687265	G	C	G132687265C	POLE	NM_006231.3(POLE):c.51C>G:p.Gly17=	coding	Benign/Likely_benign
12	132717995	C	T	C132717995T	PGAM5	NM_001170543.2(PGAM5):c.594C>T:p.Tyr198=	coding	Benign
12	132718076	G	A	G132718076A	PGAM5	NM_001170543.2(PGAM5):c.675G>A:p.Glu225=	coding	Benign
12	132728145	G	A	G132728145A	ANKLE2	NM_015114.3(ANKLE2):c.2502C>T:p.Leu834=	coding	Benign
12	132729818	G	A	G132729818A	ANKLE2	NM_015114.3(ANKLE2):c.2344C>T:p.Gln782Ter	coding	Pathogenic
12	132730176	G	A	G132730176A	ANKLE2	NM_015114.3(ANKLE2):c.1986C>T:p.Ser662=	coding	Benign
12	132730201	C	T	C132730201T	ANKLE2	NM_015114.3(ANKLE2):c.1961G>A:p.Arg654Gln	coding	Benign
12	132735438	C	T	C132735438T	ANKLE2	NM_015114.3(ANKLE2):c.1668G>A:p.Ser556=	coding	Benign
12	132736886	A	T	A132736886T	ANKLE2	NM_015114.3(ANKLE2):c.1593+7T>A	noncoding	Benign
12	132737055	G	A	G132737055A	ANKLE2	NM_015114.3(ANKLE2):c.1431C>T:p.Tyr477=	coding	Benign
12	132743163	T	C	T132743163C	ANKLE2	NM_015114.3(ANKLE2):c.1344A>G:p.Thr448=	coding	Benign
12	132743231	C	T	C132743231T	ANKLE2	NM_015114.3(ANKLE2):c.1276G>A:p.Asp426Asn	coding	Benign
12	132754714	C	A	C132754714A	ANKLE2	NM_015114.3(ANKLE2):c.601G>T:p.Gly201Trp	coding	Pathogenic
12	132755054	G	C	G132755054C	ANKLE2	NM_015114.3(ANKLE2):c.261C>G:p.Ala87=	coding	Benign
12	132789169	A	G	A132789169G	GOLGA3	NM_005895.4(GOLGA3):c.2669T>C:p.Val890Ala	coding	Benign
12	132801879	G	A	G132801879A	GOLGA3	NM_005895.4(GOLGA3):c.1688C>T:p.Ala563Val	coding	Benign
12	132804984	G	A	G132804984A	GOLGA3	NM_005895.4(GOLGA3):c.1329C>T:p.Ala443=	coding	Benign
12	132808223	G	A	G132808223A	GOLGA3	NM_005895.4(GOLGA3):c.846C>T:p.Ser282=	coding	Benign
12	132848720	C	T	C132848720T	CHFR	NM_001161346.2(CHFR):c.1497G>A:p.Ala499=	coding	Benign
12	132851694	C	T	C132851694T	CHFR	NM_001161346.2(CHFR):c.1416G>A:p.Leu472=	coding	Benign
12	133011394	C	T	C133011394T	ZNF26;ZNF84	NM_019591.4(ZNF26):c.1515C>T:p.Thr505=	coding	Benign
12	133048690	A	T	A133048690T	ZNF84	NM_001289971.2(ZNF84):c.143-63A>T	noncoding	Benign
13	19852035	G	C	G19852035C	ZMYM5	NM_001142684.2(ZMYM5):c.146C>G:p.Ser49Ter	coding	Benign
13	19993348	A	G	A19993348G	ZMYM2	NM_003453.5(ZMYM2):c.276A>G:p.Leu92=	coding	Benign
13	19993526	G	C	G19993526C	ZMYM2	NM_003453.5(ZMYM2):c.454G>C:p.Asp152His	coding	Benign
13	20005113	G	A	G20005113A	ZMYM2	NM_003453.5(ZMYM2):c.1173G>A:p.Val391=	coding	Benign
13	20005173	C	T	C20005173T	ZMYM2	NM_003453.5(ZMYM2):c.1233C>T:p.Asp411=	coding	Benign
13	20026620	A	G	A20026620G	ZMYM2	NM_003453.5(ZMYM2):c.1593A>G:p.Gly531=	coding	Benign
13	20061170	A	G	A20061170G	ZMYM2	NM_003453.5(ZMYM2):c.2857A>G:p.Met953Val	coding	Benign
13	20082980	C	T	C20082980T	ZMYM2	NM_003453.5(ZMYM2):c.3768C>T:p.Asn1256=	coding	Benign
13	20138815	G	A	G20138815A	GJA3	NM_021954.4(GJA3):c.*3166C>T	noncoding	Benign
13	20139111	G	A	G20139111A	GJA3	NM_021954.4(GJA3):c.*2870C>T	noncoding	Benign
13	20139117	A	G	A20139117G	GJA3	NM_021954.4(GJA3):c.*2864T>C	noncoding	Benign
13	20139150	T	C	T20139150C	GJA3	NM_021954.4(GJA3):c.*2831A>G	noncoding	Benign
13	20139379	A	G	A20139379G	GJA3	NM_021954.4(GJA3):c.*2602T>C	noncoding	Benign
13	20139388	T	A	T20139388A	GJA3	NM_021954.4(GJA3):c.*2593A>T	noncoding	Benign
13	20139512	A	G	A20139512G	GJA3	NM_021954.4(GJA3):c.*2469T>C	noncoding	Benign
13	20139555	G	T	G20139555T	GJA3	NM_021954.4(GJA3):c.*2426C>A	noncoding	Benign
13	20139565	T	C	T20139565C	GJA3	NM_021954.4(GJA3):c.*2416A>G	noncoding	Benign
13	20139750	T	C	T20139750C	GJA3	NM_021954.4(GJA3):c.*2231A>G	noncoding	Benign
13	20139984	C	T	C20139984T	GJA3	NM_021954.4(GJA3):c.*1997G>A	noncoding	Benign
13	20140024	C	G	C20140024G	GJA3	NM_021954.4(GJA3):c.*1957G>C	noncoding	Benign
13	20140630	G	A	G20140630A	GJA3	NM_021954.4(GJA3):c.*1351C>T	noncoding	Benign
13	20140724	C	T	C20140724T	GJA3	NM_021954.4(GJA3):c.*1257G>A	noncoding	Benign
13	20140898	A	G	A20140898G	GJA3	NM_021954.4(GJA3):c.*1083T>C	noncoding	Benign
13	20141077	C	A	C20141077A	GJA3	NM_021954.4(GJA3):c.*904G>T	noncoding	Benign
13	20141363	C	T	C20141363T	GJA3	NM_021954.4(GJA3):c.*618G>A	noncoding	Benign
13	20141400	T	C	T20141400C	GJA3	NM_021954.4(GJA3):c.*581A>G	noncoding	Benign
13	20141472	T	C	T20141472C	GJA3	NM_021954.4(GJA3):c.*509A>G	noncoding	Benign
13	20141490	A	T	A20141490T	GJA3	NM_021954.4(GJA3):c.*491T>A	noncoding	Benign
13	20141623	A	G	A20141623G	GJA3	NM_021954.4(GJA3):c.*358T>C	noncoding	Benign
13	20141662	C	A	C20141662A	GJA3	NM_021954.4(GJA3):c.*319G>T	noncoding	Benign
13	20141738	C	T	C20141738T	GJA3	NM_021954.4(GJA3):c.*243G>A	noncoding	Benign
13	20141758	A	C	A20141758C	GJA3	NM_021954.4(GJA3):c.*223T>G	noncoding	Benign
13	20141934	T	C	T20141934C	GJA3	NM_021954.4(GJA3):c.*47A>G	noncoding	Benign
13	20142055	C	T	C20142055T	GJA3	NM_021954.4(GJA3):c.1234G>A:p.Gly412Arg	coding	Benign
13	20142056	G	A	G20142056A	GJA3	NM_021954.4(GJA3):c.1233C>T:p.Leu411=	coding	Benign
13	20142178	C	T	C20142178T	GJA3	NM_021954.4(GJA3):c.1111G>A:p.Ala371Thr	coding	Benign/Likely_benign
13	20142206	T	G	T20142206G	GJA3	NM_021954.4(GJA3):c.1083A>C:p.Pro361=	coding	Benign
13	20142229	G	C	G20142229C	GJA3	NM_021954.4(GJA3):c.1060C>G:p.Pro354Ala	coding	Benign
13	20142272	C	T	C20142272T	GJA3	NM_021954.4(GJA3):c.1017G>A:p.Ala339=	coding	Benign
13	20142394	G	T	G20142394T	GJA3	NM_021954.4(GJA3):c.895C>A:p.Leu299Met	coding	Benign
13	20142518	G	T	G20142518T	GJA3	NM_021954.4(GJA3):c.771C>A:p.Pro257=	coding	Benign
13	20142673	A	T	A20142673T	GJA3	NM_021954.4(GJA3):c.616T>A:p.Phe206Ile	coding	Pathogenic
13	20142726	T	A	T20142726A	GJA3	NM_021954.4(GJA3):c.563A>T:p.Asn188Ile	coding	Pathogenic
13	20142726	T	G	T20142726G	GJA3	NM_021954.4(GJA3):c.563A>C:p.Asn188Thr	coding	Pathogenic
13	20142729	G	A	G20142729A	GJA3	NM_021954.4(GJA3):c.560C>T:p.Pro187Leu	coding	Pathogenic
13	20142746	G	A	G20142746A	GJA3	NM_021954.4(GJA3):c.543C>T:p.Cys181=	coding	Benign
13	20142823	T	G	T20142823G	GJA3	NM_021954.4(GJA3):c.466A>C:p.Lys156Gln	coding	Pathogenic
13	20142862	C	T	C20142862T	GJA3	NM_021954.4(GJA3):c.427G>A:p.Gly143Arg	coding	Pathogenic
13	20142891	C	T	C20142891T	GJA3	NM_021954.4(GJA3):c.398G>A:p.Arg133Gln	coding	Benign
13	20142894	G	A	G20142894A	GJA3	NM_021954.4(GJA3):c.395C>T:p.Ser132Leu	coding	Benign
13	20142914	T	C	T20142914C	GJA3	NM_021954.4(GJA3):c.375A>G:p.Pro125=	coding	Benign
13	20143028	C	T	C20143028T	GJA3	NM_021954.4(GJA3):c.261G>A:p.Thr87=	coding	Benign
13	20143029	G	A	G20143029A	GJA3	NM_021954.4(GJA3):c.260C>T:p.Thr87Met	coding	Pathogenic
13	20143058	G	A	G20143058A	GJA3	NM_021954.4(GJA3):c.231C>T:p.Phe77=	coding	Benign
13	20143062	C	T	C20143062T	GJA3	NM_021954.4(GJA3):c.227G>A:p.Arg76His	coding	Pathogenic
13	20143101	T	C	T20143101C	GJA3	NM_021954.4(GJA3):c.188A>G:p.Asn63Ser	coding	Pathogenic
13	20143113	G	A	G20143113A	GJA3	NM_021954.4(GJA3):c.176C>T:p.Pro59Leu	coding	Pathogenic
13	20143159	C	T	C20143159T	GJA3	NM_021954.4(GJA3):c.130G>A:p.Val44Met	coding	Pathogenic
13	20143233	G	A	G20143233A	GJA3	NM_021954.4(GJA3):c.56C>T:p.Thr19Met	coding	Pathogenic
13	20143284	C	T	C20143284T	GJA3	NM_021954.4(GJA3):c.5G>A:p.Gly2Asp	coding	Pathogenic
13	20160932	C	T	C20160932T	GJA3	NM_021954.4(GJA3):c.-60G>A	noncoding	Benign
13	20187454	C	T	C20187454T	GJB2	NM_004004.5(GJB2):c.*1447G>A	noncoding	Benign
13	20187624	A	G	A20187624G	GJB2	NM_004004.6(GJB2):c.*1277T>C	noncoding	Benign
13	20187704	A	T	A20187704T	GJB2	NM_004004.6(GJB2):c.*1197T>A	noncoding	Benign/Likely_benign
13	20187749	C	T	C20187749T	GJB2	NM_004004.6(GJB2):c.*1152G>A	noncoding	Benign
13	20187834	C	A	C20187834A	GJB2	NM_004004.6(GJB2):c.*1067G>T	noncoding	Benign
13	20187970	G	A	G20187970A	GJB2	NM_004004.6(GJB2):c.*931C>T	noncoding	Benign
13	20188733	T	C	T20188733C	GJB2	NM_004004.6(GJB2):c.*168A>G	noncoding	Benign
13	20188790	G	A	G20188790A	GJB2	NM_004004.6(GJB2):c.*111C>T	noncoding	Benign
13	20188797	T	A	T20188797A	GJB2	NM_004004.6(GJB2):c.*104A>T	noncoding	Benign
13	20188817	A	G	A20188817G	GJB2	NM_004004.6(GJB2):c.*84T>C	noncoding	Benign
13	20188965	T	C	T20188965C	GJB2	NM_004004.6(GJB2):c.617A>G:p.Asn206Ser	coding	Pathogenic
13	20188974	A	G	A20188974G	GJB2	NM_004004.6(GJB2):c.608T>C:p.Ile203Thr	coding	Benign
13	20188977	C	A	C20188977A	GJB2	NM_004004.6(GJB2):c.605G>T:p.Cys202Phe	coding	Pathogenic
13	20188986	G	A	G20188986A	GJB2	NM_004004.6(GJB2):c.596C>T:p.Ser199Phe	coding	Pathogenic/Likely_pathogenic
13	20189031	C	T	C20189031T	GJB2	NM_004004.6(GJB2):c.551G>A:p.Arg184Gln	coding	Pathogenic/Likely_pathogenic
13	20189032	G	A	G20189032A	GJB2	NM_004004.6(GJB2):c.550C>T:p.Arg184Trp	coding	Pathogenic
13	20189047	C	T	C20189047T	GJB2	NM_004004.6(GJB2):c.535G>A:p.Asp179Asn	coding	Pathogenic
13	20189056	T	C	T20189056C	GJB2	NM_004004.6(GJB2):c.526A>G:p.Asn176Asp	coding	Pathogenic
13	20189066	C	G	C20189066G	GJB2	NM_004004.6(GJB2):c.516G>C:p.Trp172Cys	coding	Pathogenic
13	20189066	C	T	C20189066T	GJB2	NM_004004.6(GJB2):c.516G>A:p.Trp172Ter	coding	Pathogenic
13	20189076	C	T	C20189076T	GJB2	NM_004004.6(GJB2):c.506G>A:p.Cys169Tyr	coding	Pathogenic
13	20189108	G	C	G20189108C	GJB2	NM_004004.6(GJB2):c.474C>G:p.Tyr158Ter	coding	Pathogenic
13	20189117	A	T	A20189117T	GJB2	NM_004004.6(GJB2):c.465T>A:p.Tyr155Ter	coding	Pathogenic
13	20189125	C	T	C20189125T	GJB2	NM_004004.6(GJB2):c.457G>A:p.Val153Ile	coding	Benign/Likely_benign
13	20189126	G	T	G20189126T	GJB2	NM_004004.6(GJB2):c.456C>A:p.Tyr152Ter	coding	Pathogenic/Likely_pathogenic
13	20189143	C	T	C20189143T	GJB2	NM_004004.6(GJB2):c.439G>A:p.Glu147Lys	coding	Pathogenic/Likely_pathogenic
13	20189154	C	T	C20189154T	GJB2	NM_004004.6(GJB2):c.428G>A:p.Arg143Gln	coding	Pathogenic/Likely_pathogenic
13	20189155	G	A	G20189155A	GJB2	NM_004004.6(GJB2):c.427C>T:p.Arg143Trp	coding	Pathogenic
13	20189156	G	T	G20189156T	GJB2	NM_004004.6(GJB2):c.426C>A:p.Phe142Leu	coding	Pathogenic
13	20189170	T	C	T20189170C	GJB2	NM_004004.6(GJB2):c.412A>G:p.Ser138Gly	coding	Benign/Likely_benign
13	20189182	A	G	A20189182G	GJB2	NM_004004.6(GJB2):c.400T>C:p.Trp134Arg	coding	Pathogenic
13	20189197	C	A	C20189197A	GJB2	NM_004004.6(GJB2):c.385G>T:p.Glu129Ter	coding	Pathogenic/Likely_pathogenic
13	20189203	G	A	G20189203A	GJB2	NM_004004.6(GJB2):c.379C>T:p.Arg127Cys	coding	Pathogenic/Likely_pathogenic
13	20189212	G	A	G20189212A	GJB2	NM_004004.6(GJB2):c.370C>T:p.Gln124Ter	coding	Pathogenic
13	20189214	G	T	G20189214T	GJB2	NM_004004.6(GJB2):c.368C>A:p.Thr123Asn	coding	Benign/Likely_benign
13	20189217	T	A	T20189217A	GJB2	NM_004004.6(GJB2):c.365A>T:p.Lys122Ile	coding	Pathogenic/Likely_pathogenic
13	20189227	C	A	C20189227A	GJB2	NM_004004.6(GJB2):c.355G>T:p.Glu119Ter	coding	Pathogenic
13	20189241	T	C	T20189241C	GJB2	NM_004004.6(GJB2):c.341A>G:p.Glu114Gly	coding	Benign
13	20189284	G	A	G20189284A	GJB2	NM_004004.6(GJB2):c.298C>T:p.His100Tyr	coding	Pathogenic/Likely_pathogenic
13	20189299	C	T	C20189299T	GJB2	NM_004004.6(GJB2):c.283G>A:p.Val95Met	coding	Pathogenic/Likely_pathogenic
13	20189332	C	A	C20189332A	GJB2	NM_004004.6(GJB2):c.250G>T:p.Val84Leu	coding	Pathogenic
13	20189332	C	G	C20189332G	GJB2	NM_004004.6(GJB2):c.250G>C:p.Val84Leu	coding	Pathogenic/Likely_pathogenic
13	20189332	C	T	C20189332T	GJB2	NM_004004.6(GJB2):c.250G>A:p.Val84Met	coding	Pathogenic
13	20189333	G	C	G20189333C	GJB2	NM_004004.6(GJB2):c.249C>G:p.Phe83Leu	coding	Benign/Likely_benign
13	20189336	G	C	G20189336C	GJB2	NM_004004.6(GJB2):c.246C>G:p.Ile82Met	coding	Pathogenic/Likely_pathogenic
13	20189344	G	A	G20189344A	GJB2	NM_004004.6(GJB2):c.238C>T:p.Gln80Ter	coding	Pathogenic/Likely_pathogenic
13	20189351	C	T	C20189351T	GJB2	NM_004004.6(GJB2):c.231G>A:p.Trp77Ter	coding	Pathogenic
13	20189352	C	T	C20189352T	GJB2	NM_004004.6(GJB2):c.230G>A:p.Trp77Ter	coding	Pathogenic/Likely_pathogenic
13	20189353	A	G	A20189353G	GJB2	NM_004004.6(GJB2):c.229T>C:p.Trp77Arg	coding	Pathogenic
13	20189358	C	T	C20189358T	GJB2	NM_004004.6(GJB2):c.224G>A:p.Arg75Gln	coding	Pathogenic
13	20189359	G	A	G20189359A	GJB2	NM_004004.6(GJB2):c.223C>T:p.Arg75Trp	coding	Pathogenic
13	20189364	T	C	T20189364C	GJB2	NM_004004.6(GJB2):c.218A>G:p.His73Arg	coding	Pathogenic
13	20189377	A	G	A20189377G	GJB2	NM_004004.6(GJB2):c.205T>C:p.Phe69Leu	coding	Pathogenic
13	20189386	C	G	C20189386G	GJB2	NM_004004.6(GJB2):c.196G>C:p.Asp66His	coding	Pathogenic
13	20189387	G	C	G20189387C	GJB2	NM_004004.6(GJB2):c.195C>G:p.Tyr65Ter	coding	Pathogenic/Likely_pathogenic
13	20189406	C	G	C20189406G	GJB2	NM_004004.6(GJB2):c.176G>C:p.Gly59Ala	coding	Pathogenic
13	20189407	C	G	C20189407G	GJB2	NM_004004.6(GJB2):c.175G>C:p.Gly59Arg	coding	Pathogenic
13	20189407	C	T	C20189407T	GJB2	NM_004004.6(GJB2):c.175G>A:p.Gly59Ser	coding	Pathogenic
13	20189410	G	C	G20189410C	GJB2	NM_004004.6(GJB2):c.172C>G:p.Pro58Ala	coding	Pathogenic
13	20189413	G	A	G20189413A	GJB2	NM_004004.6(GJB2):c.169C>T:p.Gln57Ter	coding	Pathogenic
13	20189418	G	T	G20189418T	GJB2	NM_004004.6(GJB2):c.164C>A:p.Thr55Asn	coding	Pathogenic
13	20189420	G	T	G20189420T	GJB2	NM_004004.6(GJB2):c.162C>A:p.Asn54Lys	coding	Pathogenic
13	20189424	C	T	C20189424T	GJB2	NM_004004.6(GJB2):c.158G>A:p.Cys53Tyr	coding	Pathogenic
13	20189434	C	A	C20189434A	GJB2	NM_004004.6(GJB2):c.148G>T:p.Asp50Tyr	coding	Pathogenic
13	20189434	C	T	C20189434T	GJB2	NM_004004.6(GJB2):c.148G>A:p.Asp50Asn	coding	Pathogenic
13	20189443	C	A	C20189443A	GJB2	NM_004004.6(GJB2):c.139G>T:p.Glu47Ter	coding	Pathogenic
13	20189446	C	T	C20189446T	GJB2	NM_004004.6(GJB2):c.136G>A:p.Asp46Asn	coding	Pathogenic
13	20189448	C	T	C20189448T	GJB2	NM_004004.6(GJB2):c.134G>A:p.Gly45Glu	coding	Pathogenic/Likely_pathogenic
13	20189450	C	G	C20189450G	GJB2	NM_004004.6(GJB2):c.132G>C:p.Trp44Cys	coding	Pathogenic
13	20189450	C	T	C20189450T	GJB2	NM_004004.6(GJB2):c.132G>A:p.Trp44Ter	coding	Pathogenic
13	20189451	C	G	C20189451G	GJB2	NM_004004.6(GJB2):c.131G>C:p.Trp44Ser	coding	Pathogenic
13	20189451	C	T	C20189451T	GJB2	NM_004004.6(GJB2):c.131G>A:p.Trp44Ter	coding	Pathogenic/Likely_pathogenic
13	20189473	C	T	C20189473T	GJB2	NM_004004.6(GJB2):c.109G>A:p.Val37Ile	coding	Pathogenic
13	20189481	A	G	A20189481G	GJB2	NM_004004.6(GJB2):c.101T>C:p.Met34Thr	coding	Pathogenic
13	20189487	C	A	C20189487A	GJB2	NM_004004.6(GJB2):c.95G>T:p.Arg32Leu	coding	Pathogenic/Likely_pathogenic
13	20189487	C	T	C20189487T	GJB2	NM_004004.6(GJB2):c.95G>A:p.Arg32His	coding	Pathogenic
13	20189488	G	A	G20189488A	GJB2	NM_004004.6(GJB2):c.94C>T:p.Arg32Cys	coding	Pathogenic
13	20189488	G	T	G20189488T	GJB2	NM_004004.6(GJB2):c.94C>A:p.Arg32Ser	coding	Pathogenic/Likely_pathogenic
13	20189503	C	T	C20189503T	GJB2	NM_004004.6(GJB2):c.79G>A:p.Val27Ile	coding	Benign
13	20189510	C	T	C20189510T	GJB2	NM_004004.6(GJB2):c.72G>A:p.Trp24Ter	coding	Pathogenic
13	20189511	C	T	C20189511T	GJB2	NM_004004.6(GJB2):c.71G>A:p.Trp24Ter	coding	Pathogenic
13	20189516	C	A	C20189516A	GJB2	NM_004004.6(GJB2):c.66G>T:p.Lys22Asn	coding	Pathogenic
13	20189523	A	G	A20189523G	GJB2	NM_004004.6(GJB2):c.59T>C:p.Ile20Thr	coding	Pathogenic/Likely_pathogenic
13	20189532	G	A	G20189532A	GJB2	NM_004004.6(GJB2):c.50C>T:p.Ser17Phe	coding	Pathogenic
13	20189538	T	G	T20189538G	GJB2	NM_004004.6(GJB2):c.44A>C:p.Lys15Thr	coding	Pathogenic/Likely_pathogenic
13	20189547	C	A	C20189547A	GJB2	NM_004004.6(GJB2):c.35G>T:p.Gly12Val	coding	Pathogenic/Likely_pathogenic
13	20189548	C	G	C20189548G	GJB2	NM_004004.6(GJB2):c.34G>C:p.Gly12Arg	coding	Pathogenic
13	20189563	G	A	G20189563A	GJB2	NM_004004.6(GJB2):c.19C>T:p.Gln7Ter	coding	Pathogenic/Likely_pathogenic
13	20189573	C	T	C20189573T	GJB2	NM_004004.6(GJB2):c.9G>A:p.Trp3Ter	coding	Pathogenic/Likely_pathogenic
13	20189581	T	C	T20189581C	GJB2	NM_004004.6(GJB2):c.1A>G:p.Met1Val	coding	Pathogenic
13	20189596	G	A	G20189596A	GJB2	NM_004004.6(GJB2):c.-15C>T	noncoding	Benign/Likely_benign
13	20189615	G	A	G20189615A	GJB2	NM_004004.6(GJB2):c.-22-12C>T	noncoding	Benign
13	20192771	C	T	C20192771T	GJB2	NM_004004.6(GJB2):c.-23+12G>A	noncoding	Benign
13	20192782	C	T	C20192782T	GJB2	NM_004004.6(GJB2):c.-23+1G>A	noncoding	Pathogenic
13	20192976	A	C	A20192976C	GJB2	NM_004004.5(GJB2):c.-216T>G	noncoding	Benign/Likely_benign
13	20222358	C	A	C20222358A	GJB6	NM_001110219.3(GJB6):c.*337G>T	noncoding	Benign
13	20222394	C	G	C20222394G	GJB6	NM_001110219.3(GJB6):c.*301G>C	noncoding	Benign
13	20222874	T	C	T20222874C	GJB6	NM_001110219.3(GJB6):c.607A>G:p.Met203Val	coding	Benign/Likely_benign
13	20222886	A	T	A20222886T	GJB6	NM_001110219.3(GJB6):c.595T>A:p.Ser199Thr	coding	Benign/Likely_benign
13	20223001	C	T	C20223001T	GJB6	NM_001110219.3(GJB6):c.480G>A:p.Gly160=	coding	Benign
13	20223005	T	C	T20223005C	GJB6	NM_001110219.3(GJB6):c.476A>G:p.Asn159Ser	coding	Benign/Likely_benign
13	20223085	C	T	C20223085T	GJB6	NM_001110219.3(GJB6):c.396G>A:p.Leu132=	coding	Benign
13	20223123	C	T	C20223123T	GJB6	NM_001110219.3(GJB6):c.358G>A:p.Asp120Asn	coding	Benign/Likely_benign
13	20223142	A	T	A20223142T	GJB6	NM_001110219.3(GJB6):c.339T>A:p.Asn113Lys	coding	Benign/Likely_benign
13	20223218	G	A	G20223218A	GJB6	NM_001110219.3(GJB6):c.263C>T:p.Ala88Val	coding	Pathogenic
13	20223362	G	A	G20223362A	GJB6	NM_001110219.3(GJB6):c.119C>T:p.Ala40Val	coding	Pathogenic
13	20223371	A	T	A20223371T	GJB6	NM_001110219.3(GJB6):c.110T>A:p.Val37Glu	coding	Pathogenic
13	20223450	C	T	C20223450T	GJB6	NM_001110219.3(GJB6):c.31G>A:p.Gly11Arg	coding	Pathogenic
13	20223467	G	A	G20223467A	GJB6	NM_001110219.3(GJB6):c.14C>T:p.Thr5Met	coding	Pathogenic
13	20229599	A	T	A20229599T	GJB6	NM_001110219.3(GJB6):c.-35T>A	noncoding	Benign
13	20229669	A	T	A20229669T	GJB6	NM_001110219.3(GJB6):c.-105T>A	noncoding	Benign
13	20231026	C	T	C20231026T	GJB6	NM_001110219.3(GJB6):c.-295-219G>A	noncoding	Benign
13	20489394	T	G	T20489394G	CRYL1	NM_015974.3(CRYL1):c.252A>C:p.Ala84=	coding	Benign
13	20591668	A	G	A20591668G	IFT88	NM_001318493.2(IFT88):c.342A>G:p.Lys114=	coding	Benign
13	20598669	A	G	A20598669G	IFT88	NM_001318493.2(IFT88):c.640A>G:p.Ser214Gly	coding	Benign
13	20615802	G	A	G20615802A	IFT88	NM_006531.5(IFT88):c.1122G>A:p.Met374Ile	coding	Benign
13	20631001	A	T	A20631001T	IFT88	NM_006531.5(IFT88):c.1300-15A>T	noncoding	Benign
13	20631053	G	A	G20631053A	IFT88	NM_006531.5(IFT88):c.1337G>A:p.Ser446Asn	coding	Benign
13	20653914	G	C	G20653914C	IFT88	NM_001318493.2(IFT88):c.2015G>C:p.Cys672Ser	coding	Benign
13	20721711	G	C	G20721711C	IL17D	NM_138284.1(IL17D):c.366G>C:p.Gly122=	coding	Benign
13	20721897	C	G	C20721897G	IL17D	NM_138284.1(IL17D):c.552C>G:p.Ile184Met	coding	Benign
13	20821731	A	G	A20821731G	XPO4	NM_022459.4(XPO4):c.1146T>C:p.Phe382=	coding	Benign
13	20975100	C	T	C20975100T	LATS2	NM_014572.3(LATS2):c.3037G>A:p.Asp1013Asn	coding	Benign
13	20975215	G	A	G20975215A	LATS2	NM_014572.3(LATS2):c.2922C>T:p.Ser974=	coding	Benign
13	20981461	T	C	T20981461C	LATS2	NM_014572.3(LATS2):c.2665+5A>G	noncoding	Benign
13	20981470	G	A	G20981470A	LATS2	NM_014572.3(LATS2):c.2661C>T:p.Arg887=	coding	Benign
13	20981575	G	C	G20981575C	LATS2	NM_014572.3(LATS2):c.2556C>G:p.Asp852Glu	coding	Benign
13	20983240	G	C	G20983240C	LATS2	NM_014572.3(LATS2):c.2466C>G:p.Ser822=	coding	Benign
13	20988093	C	T	C20988093T	LATS2	NM_014572.3(LATS2):c.1687G>A:p.Gly563Arg	coding	Benign
13	20988178	G	A	G20988178A	LATS2	NM_014572.3(LATS2):c.1602C>T:p.Asp534=	coding	Benign
13	20988223	C	T	C20988223T	LATS2	NM_014572.3(LATS2):c.1557G>A:p.Pro519=	coding	Benign
13	20988487	G	A	G20988487A	LATS2	NM_014572.3(LATS2):c.1293C>T:p.Thr431=	coding	Benign
13	20988622	C	T	C20988622T	LATS2	NM_014572.3(LATS2):c.1158G>A:p.Leu386=	coding	Benign
13	20988646	C	T	C20988646T	LATS2	NM_014572.3(LATS2):c.1134G>A:p.Arg378=	coding	Benign
13	20988940	C	A	C20988940A	LATS2	NM_014572.3(LATS2):c.840G>T:p.Pro280=	coding	Benign
13	21671187	C	T	C21671187T	FGF9	NM_002010.3(FGF9):c.-726C>T	noncoding	Benign
13	21671201	C	T	C21671201T	FGF9	NM_002010.3(FGF9):c.-712C>T	noncoding	Benign
13	21671484	G	A	G21671484A	FGF9	NM_002010.3(FGF9):c.-429G>A	noncoding	Benign
13	21671499	C	T	C21671499T	FGF9	NM_002010.3(FGF9):c.-414C>T	noncoding	Benign
13	21671742	A	G	A21671742G	FGF9	NM_002010.3(FGF9):c.-171A>G	noncoding	Benign
13	21671954	G	C	G21671954C	FGF9	NM_002010.3(FGF9):c.42G>C:p.Gln14His	coding	Benign
13	21672096	A	G	A21672096G	FGF9	NM_002010.3(FGF9):c.184A>G:p.Arg62Gly	coding	Pathogenic
13	21681028	C	T	C21681028T	FGF9	NM_002010.3(FGF9):c.278-14C>T	noncoding	Benign
13	21681060	G	A	G21681060A	FGF9	NM_002010.3(FGF9):c.296G>A:p.Ser99Asn	coding	Pathogenic
13	21681091	C	T	C21681091T	FGF9	NM_002010.3(FGF9):c.327C>T:p.Gly109=	coding	Benign
13	21701255	A	G	A21701255G	FGF9	NM_002010.3(FGF9):c.447A>G:p.Ser149=	coding	Benign
13	21701324	G	T	G21701324T	FGF9	NM_002010.3(FGF9):c.516G>T:p.Pro172=	coding	Benign
13	21701444	G	A	G21701444A	FGF9	NM_002010.3(FGF9):c.*9G>A	noncoding	Benign
13	21701643	G	A	G21701643A	FGF9	NM_002010.3(FGF9):c.*208G>A	noncoding	Benign
13	21701701	G	A	G21701701A	FGF9	NM_002010.3(FGF9):c.*266G>A	noncoding	Benign
13	21701753	G	A	G21701753A	FGF9	NM_002010.3(FGF9):c.*318G>A	noncoding	Benign
13	21701790	C	G	C21701790G	FGF9	NM_002010.3(FGF9):c.*355C>G	noncoding	Benign
13	21701807	A	T	A21701807T	FGF9	NM_002010.3(FGF9):c.*372A>T	noncoding	Benign
13	21701877	T	C	T21701877C	FGF9	NM_002010.3(FGF9):c.*442T>C	noncoding	Benign
13	21701931	C	T	C21701931T	FGF9	NM_002010.3(FGF9):c.*496C>T	noncoding	Benign
13	21701951	C	A	C21701951A	FGF9	NM_002010.3(FGF9):c.*516C>A	noncoding	Benign
13	21701976	C	A	C21701976A	FGF9	NM_002010.3(FGF9):c.*541C>A	noncoding	Benign
13	21702431	A	G	A21702431G	FGF9	NM_002010.3(FGF9):c.*996A>G	noncoding	Benign
13	21702529	C	T	C21702529T	FGF9	NM_002010.3(FGF9):c.*1094C>T	noncoding	Benign
13	21702701	A	G	A21702701G	FGF9	NM_002010.3(FGF9):c.*1266A>G	noncoding	Benign
13	21702846	T	C	T21702846C	FGF9	NM_002010.3(FGF9):c.*1411T>C	noncoding	Benign
13	21703039	C	G	C21703039G	FGF9	NM_002010.3(FGF9):c.*1604C>G	noncoding	Benign
13	21703176	C	T	C21703176T	FGF9	NM_002010.3(FGF9):c.*1741C>T	noncoding	Benign
13	21703312	G	A	G21703312A	FGF9	NM_002010.3(FGF9):c.*1877G>A	noncoding	Benign
13	21703760	A	G	A21703760G	FGF9	NM_002010.3(FGF9):c.*2325A>G	noncoding	Benign
13	21703998	G	C	G21703998C	FGF9	NM_002010.3(FGF9):c.*2563G>C	noncoding	Benign
13	21704020	C	T	C21704020T	FGF9	NM_002010.3(FGF9):c.*2585C>T	noncoding	Benign
13	21704069	C	T	C21704069T	FGF9	NM_002010.3(FGF9):c.*2634C>T	noncoding	Benign
13	23180988	G	A	G23180988A	SGCG	NM_000231.2(SGCG):c.-88G>A	noncoding	Benign/Likely_benign
13	23203852	T	C	T23203852C	SGCG	NM_000231.2(SGCG):c.158T>C:p.Leu53Pro	coding	Pathogenic
13	23203861	G	A	G23203861A	SGCG	NM_000231.3(SGCG):c.167G>A:p.Trp56Ter	coding	Pathogenic
13	23203890	G	C	G23203890C	SGCG	NM_000231.2(SGCG):c.195+1G>C	coding	Pathogenic
13	23234311	C	G	C23234311G	SGCG	NM_000231.2(SGCG):c.196-300C>G	noncoding	Benign
13	23234329	A	T	A23234329T	SGCG	NM_000231.2(SGCG):c.196-282A>T	noncoding	Benign
13	23234330	A	T	A23234330T	SGCG	NM_000231.2(SGCG):c.196-281A>T	noncoding	Benign
13	23234414	G	C	G23234414C	SGCG	NM_000231.2(SGCG):c.196-197G>C	noncoding	Benign
13	23234643	T	C	T23234643C	SGCG	NM_000231.3(SGCG):c.228T>C:p.Asp76=	coding	Benign/Likely_benign
13	23234775	A	C	A23234775C	SGCG	NM_000231.2(SGCG):c.297+63A>C	noncoding	Benign
13	23250644	T	G	T23250644G	SGCG	NM_000231.3(SGCG):c.312T>G:p.Leu104=	coding	Benign
13	23250679	G	A	G23250679A	SGCG	NM_000231.3(SGCG):c.347G>A:p.Arg116His	coding	Benign/Likely_benign
13	23250719	T	G	T23250719G	SGCG	NM_000231.2(SGCG):c.385+2T>G	noncoding	Pathogenic
13	23279329	A	G	A23279329G	SGCG	NM_000231.2(SGCG):c.386-30A>G	noncoding	Benign
13	23279357	A	G	A23279357G	SGCG	NM_000231.2(SGCG):c.386-2A>G	noncoding	Pathogenic
13	23279408	C	T	C23279408T	SGCG	NM_000231.2(SGCG):c.435C>T:p.Asn145=	coding	Benign
13	23279469	C	T	C23279469T	SGCG	NM_000231.3(SGCG):c.496C>T:p.Arg166Ter	coding	Pathogenic
13	23279524	T	A	T23279524A	SGCG	NM_000231.2(SGCG):c.505+46T>A	noncoding	Benign
13	23279627	T	C	T23279627C	SGCG	NM_000231.2(SGCG):c.505+149T>C	noncoding	Benign
13	23295442	C	G	C23295442G	SGCG	NM_000231.3(SGCG):c.533C>G:p.Ser178Ter	coding	Pathogenic
13	23295632	G	C	G23295632C	SGCG	NM_000231.2(SGCG):c.578+145G>C	noncoding	Benign
13	23295768	T	C	T23295768C	SGCG	NM_000231.2(SGCG):c.578+281T>C	noncoding	Benign
13	23320615	G	T	G23320615T	SGCG	NM_000231.2(SGCG):c.579-22G>T	noncoding	Benign/Likely_benign
13	23320635	A	G	A23320635G	SGCG	NM_000231.2(SGCG):c.579-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	23320639	T	C	T23320639C	SGCG	NM_000231.2(SGCG):c.581T>C:p.Leu194Ser	coding	Pathogenic
13	23320707	A	T	A23320707T	SGCG	NM_000231.3(SGCG):c.649A>T:p.Lys217Ter	coding	Pathogenic
13	23320748	T	A	T23320748A	SGCG	NM_000231.2(SGCG):c.690T>A:p.Ser230Arg	coding	Pathogenic
13	23321012	G	T	G23321012T	SGCG	NM_000231.2(SGCG):c.702+252G>T	noncoding	Benign
13	23321086	C	T	C23321086T	SGCG	NM_000231.2(SGCG):c.702+326C>T	noncoding	Benign
13	23324315	C	T	C23324315T	SGCG	NM_000231.2(SGCG):c.703-53C>T	noncoding	Benign
13	23324350	T	C	T23324350C	SGCG	NM_000231.2(SGCG):c.703-18T>C	noncoding	Benign
13	23324370	T	C	T23324370C	SGCG;SACS	NM_000231.3(SGCG):c.705T>C:p.Leu235=	coding	Benign/Likely_benign
13	23324452	G	A	G23324452A	SGCG	NM_000231.3(SGCG):c.787G>A:p.Glu263Lys	coding	Pathogenic
13	23324513	G	A	G23324513A	SGCG	NM_000231.2(SGCG):c.848G>A:p.Cys283Tyr	coding	Pathogenic/Likely_pathogenic
13	23324525	A	G	A23324525G	SGCG;SACS	NM_000231.3(SGCG):c.860A>G:p.Asn287Ser	coding	Benign
13	23324554	C	T	C23324554T	SGCG;SACS	NM_000231.3(SGCG):c.*13C>T	noncoding	Benign/Likely_benign
13	23324677	T	C	T23324677C	SGCG;SACS	NM_000231.2(SGCG):c.*136T>C	noncoding	Benign/Likely_benign
13	23324795	G	A	G23324795A	SGCG;SACS	NM_000231.2(SGCG):c.*254G>A	noncoding	Benign/Likely_benign
13	23324836	T	C	T23324836C	SGCG;SACS	NM_000231.2(SGCG):c.*295T>C	noncoding	Benign/Likely_benign
13	23324837	G	A	G23324837A	SGCG	NM_000231.3(SGCG):c.*296G>A	noncoding	Benign
13	23325046	A	G	A23325046G	SGCG	NM_000231.3(SGCG):c.*505A>G	noncoding	Benign
13	23325087	T	C	T23325087C	SGCG	NM_000231.3(SGCG):c.*546T>C	noncoding	Benign
13	23330422	A	G	A23330422G	SACS	NM_014363.6(SACS):c.13454T>C:p.Leu4485Ser	coding	Pathogenic
13	23330502	G	A	G23330502A	SACS	NM_014363.6(SACS):c.13374C>T:p.Phe4458=	coding	Benign
13	23330604	G	A	G23330604A	SACS	NM_014363.6(SACS):c.13272C>T:p.Ala4424=	coding	Benign
13	23330968	A	T	A23330968T	SACS	NM_014363.6(SACS):c.12908T>A:p.Leu4303Ter	coding	Pathogenic
13	23331254	G	A	G23331254A	SACS	NM_014363.6(SACS):c.12622C>T:p.Gln4208Ter	coding	Pathogenic/Likely_pathogenic
13	23331572	A	G	A23331572G	SACS	NM_014363.6(SACS):c.12304T>C:p.Leu4102=	coding	Benign/Likely_benign
13	23331656	C	G	C23331656G	SACS	NM_014363.6(SACS):c.12220G>C:p.Ala4074Pro	coding	Pathogenic
13	23331716	G	A	G23331716A	SACS	NM_014363.6(SACS):c.12160C>T:p.Gln4054Ter	coding	Pathogenic/Likely_pathogenic
13	23331848	G	A	G23331848A	SACS	NM_014363.6(SACS):c.12028C>T:p.Gln4010Ter	coding	Pathogenic
13	23331935	G	A	G23331935A	SACS	NM_014363.6(SACS):c.11941C>T:p.Gln3981Ter	coding	Pathogenic
13	23331962	G	A	G23331962A	SACS	NM_014363.6(SACS):c.11914C>T:p.Arg3972Ter	coding	Pathogenic
13	23332169	G	A	G23332169A	SACS	NM_014363.6(SACS):c.11707C>T:p.Arg3903Ter	coding	Pathogenic
13	23332502	G	A	G23332502A	SACS	NM_014363.6(SACS):c.11374C>T:p.Arg3792Ter	coding	Pathogenic
13	23332844	G	C	G23332844C	SACS	NM_014363.6(SACS):c.11032C>G:p.Pro3678Ala	coding	Benign/Likely_benign
13	23332937	C	A	C23332937A	SACS	NM_014363.6(SACS):c.10939G>T:p.Glu3647Ter	coding	Pathogenic
13	23332970	G	A	G23332970A	SACS	NM_014363.6(SACS):c.10906C>T:p.Arg3636Ter	coding	Pathogenic/Likely_pathogenic
13	23333021	C	A	C23333021A	SACS	NM_014363.6(SACS):c.10855G>T:p.Glu3619Ter	coding	Pathogenic
13	23333029	C	T	C23333029T	SACS	NM_014363.6(SACS):c.10847G>A:p.Trp3616Ter	coding	Pathogenic
13	23333063	T	A	T23333063A	SACS	NM_014363.6(SACS):c.10813A>T:p.Lys3605Ter	coding	Pathogenic
13	23333394	T	C	T23333394C	SACS	NM_014363.6(SACS):c.10482A>G:p.Leu3494=	coding	Benign
13	23333538	C	T	C23333538T	SACS	NM_014363.6(SACS):c.10338G>A:p.Gln3446=	coding	Benign
13	23333655	T	C	T23333655C	SACS	NM_014363.6(SACS):c.10221A>G:p.Leu3407=	coding	Benign
13	23333740	A	C	A23333740C	SACS	NM_014363.6(SACS):c.10136T>G:p.Leu3379Ter	coding	Pathogenic/Likely_pathogenic
13	23333770	A	G	A23333770G	SACS	NM_014363.6(SACS):c.10106T>C:p.Val3369Ala	coding	Benign/Likely_benign
13	23333895	A	G	A23333895G	SACS	NM_014363.6(SACS):c.9981T>C:p.Ala3327=	coding	Benign/Likely_benign
13	23334030	T	C	T23334030C	SACS	NM_014363.6(SACS):c.9846A>G:p.Pro3282=	coding	Benign/Likely_benign
13	23334132	C	T	C23334132T	SACS	NM_014363.6(SACS):c.9744G>A:p.Trp3248Ter	coding	Pathogenic
13	23334134	A	G	A23334134G	SACS	NM_014363.6(SACS):c.9742T>C:p.Trp3248Arg	coding	Pathogenic
13	23334368	G	A	G23334368A	SACS	NM_014363.6(SACS):c.9508C>T:p.Arg3170Ter	coding	Pathogenic
13	23334543	A	G	A23334543G	SACS	NM_014363.6(SACS):c.9333T>C:p.Asn3111=	coding	Benign/Likely_benign
13	23334571	A	T	A23334571T	SACS	NM_014363.6(SACS):c.9305T>A:p.Leu3102Ter	coding	Pathogenic
13	23334577	G	T	G23334577T	SACS	NM_014363.6(SACS):c.9299C>A:p.Ser3100Tyr	coding	Benign
13	23334954	T	C	T23334954C	SACS	NM_014363.6(SACS):c.8922A>G:p.Leu2974=	coding	Benign
13	23335003	T	C	T23335003C	SACS	NM_014363.6(SACS):c.8873A>G:p.Lys2958Arg	coding	Benign
13	23335023	A	G	A23335023G	SACS	NM_014363.6(SACS):c.8853T>C:p.Val2951=	coding	Benign/Likely_benign
13	23335405	G	C	G23335405C	SACS	NM_014363.6(SACS):c.8471C>G:p.Ser2824Ter	coding	Pathogenic
13	23335422	C	T	C23335422T	SACS	NM_014363.6(SACS):c.8454G>A:p.Trp2818Ter	coding	Pathogenic
13	23335531	G	A	G23335531A	SACS	NM_014363.6(SACS):c.8345C>T:p.Ala2782Val	coding	Benign/Likely_benign
13	23335532	C	T	C23335532T	SACS	NM_014363.6(SACS):c.8344G>A:p.Ala2782Thr	coding	Benign/Likely_benign
13	23335749	T	G	T23335749G	SACS	NM_014363.6(SACS):c.8127A>C:p.Lys2709Asn	coding	Benign
13	23336139	C	T	C23336139T	SACS	NM_014363.6(SACS):c.7737G>A:p.Lys2579=	coding	Benign/Likely_benign
13	23336372	G	A	G23336372A	SACS	NM_014363.6(SACS):c.7504C>T:p.Arg2502Ter	coding	Pathogenic
13	23336492	G	A	G23336492A	SACS	NM_014363.6(SACS):c.7384C>T:p.Pro2462Ser	coding	Benign
13	23336600	G	A	G23336600A	SACS	NM_014363.6(SACS):c.7276C>T:p.Arg2426Ter	coding	Pathogenic/Likely_pathogenic
13	23336603	G	A	G23336603A	SACS	NM_014363.6(SACS):c.7273C>T:p.Arg2425Ter	coding	Pathogenic
13	23336604	G	T	G23336604T	SACS	NM_014363.6(SACS):c.7272C>A:p.Cys2424Ter	coding	Pathogenic
13	23336727	G	A	G23336727A	SACS	NM_014363.6(SACS):c.7149C>T:p.Arg2383=	coding	Benign/Likely_benign
13	23337442	A	T	A23337442T	SACS	NM_014363.6(SACS):c.6434T>A:p.Leu2145Ter	coding	Pathogenic
13	23337521	G	A	G23337521A	SACS	NM_014363.6(SACS):c.6355C>T:p.Arg2119Ter	coding	Pathogenic
13	23337609	C	T	C23337609T	SACS	NM_014363.6(SACS):c.6267G>A:p.Ser2089=	coding	Benign/Likely_benign
13	23337681	A	G	A23337681G	SACS	NM_014363.6(SACS):c.6195T>C:p.Ile2065=	coding	Benign/Likely_benign
13	23338040	A	G	A23338040G	SACS	NM_014363.6(SACS):c.5836T>C:p.Trp1946Arg	coding	Pathogenic
13	23338050	G	A	G23338050A	SACS	NM_014363.6(SACS):c.5826C>T:p.Tyr1942=	coding	Benign
13	23338157	G	A	G23338157A	SACS	NM_014363.6(SACS):c.5719C>T:p.Arg1907Ter	coding	Pathogenic
13	23338294	C	T	C23338294T	SACS	NM_014363.6(SACS):c.5582G>A:p.Trp1861Ter	coding	Pathogenic
13	23338448	G	A	G23338448A	SACS	NM_014363.6(SACS):c.5428C>T:p.Gln1810Ter	coding	Pathogenic
13	23338569	A	G	A23338569G	SACS	NM_014363.6(SACS):c.5307T>C:p.His1769=	coding	Benign
13	23338602	G	A	G23338602A	SACS	NM_014363.6(SACS):c.5274C>T:p.Cys1758=	coding	Benign
13	23338733	T	A	T23338733A	SACS	NM_014363.6(SACS):c.5143A>T:p.Lys1715Ter	coding	Pathogenic
13	23338751	G	A	G23338751A	SACS	NM_014363.6(SACS):c.5125C>T:p.Gln1709Ter	coding	Pathogenic
13	23338943	G	A	G23338943A	SACS	NM_014363.6(SACS):c.4933C>T:p.Arg1645Ter	coding	Pathogenic
13	23338965	G	T	G23338965T	SACS	NM_014363.6(SACS):c.4911C>A:p.Tyr1637Ter	coding	Pathogenic
13	23339132	C	T	C23339132T	SACS	NM_014363.6(SACS):c.4744G>A:p.Asp1582Asn	coding	Pathogenic/Likely_pathogenic
13	23339278	G	C	G23339278C	SACS	NM_014363.6(SACS):c.4598C>G:p.Ser1533Ter	coding	Pathogenic
13	23339291	G	A	G23339291A	SACS	NM_014363.6(SACS):c.4585C>T:p.Gln1529Ter	coding	Pathogenic
13	23339644	A	C	A23339644C	SACS	NM_014363.6(SACS):c.4232T>G:p.Leu1411Ter	coding	Pathogenic
13	23339688	G	A	G23339688A	SACS	NM_014363.6(SACS):c.4188C>T:p.His1396=	coding	Benign/Likely_benign
13	23339773	C	A	C23339773A	SACS	NM_014363.6(SACS):c.4103G>T:p.Ser1368Ile	coding	Pathogenic
13	23340715	A	G	A23340715G	SACS	NM_014363.6(SACS):c.3161T>C:p.Phe1054Ser	coding	Pathogenic
13	23340821	T	C	T23340821C	SACS	NM_014363.6(SACS):c.3055A>G:p.Asn1019Asp	coding	Pathogenic
13	23340995	G	A	G23340995A	SACS	NM_014363.6(SACS):c.2881C>T:p.Arg961Ter	coding	Pathogenic
13	23341155	C	T	C23341155T	SACS	NM_014363.6(SACS):c.2721G>A:p.Leu907=	coding	Benign/Likely_benign
13	23341163	T	A	T23341163A	SACS	NM_014363.6(SACS):c.2713A>T:p.Lys905Ter	coding	Pathogenic
13	23341587	T	C	T23341587C	SACS	NM_014363.6(SACS):c.2289A>G:p.Gln763=	coding	Benign/Likely_benign
13	23353788	G	A	G23353788A	SACS	NM_014363.6(SACS):c.2182C>T:p.Arg728Ter	coding	Pathogenic/Likely_pathogenic
13	23354532	C	T	C23354532T	SACS	NM_014363.6(SACS):c.2080G>A:p.Ala694Thr	coding	Benign
13	23354773	C	T	C23354773T	SACS	NM_014363.6(SACS):c.1839G>A:p.Gln613=	coding	Benign/Likely_benign
13	23354905	C	T	C23354905T	SACS	NM_014363.6(SACS):c.1707G>A:p.Trp569Ter	coding	Pathogenic
13	23354906	C	T	C23354906T	SACS	NM_014363.6(SACS):c.1706G>A:p.Trp569Ter	coding	Pathogenic
13	23354940	G	A	G23354940A	SACS	NM_014363.6(SACS):c.1672C>T:p.Gln558Ter	coding	Pathogenic/Likely_pathogenic
13	23354956	T	C	T23354956C	SACS	NM_014363.6(SACS):c.1656A>G:p.Leu552=	coding	Benign/Likely_benign
13	23355171	C	A	C23355171A	SACS	NM_014363.6(SACS):c.1441G>T:p.Glu481Ter	coding	Pathogenic
13	23355411	G	A	G23355411A	SACS	NM_014363.6(SACS):c.1201C>T:p.Arg401Ter	coding	Pathogenic
13	23355460	A	C	A23355460C	SACS	NM_014363.6(SACS):c.1152T>G:p.Thr384=	coding	Benign
13	23355608	G	T	G23355608T	SACS	NM_014363.6(SACS):c.1004C>A:p.Ser335Ter	coding	Pathogenic
13	23355651	G	A	G23355651A	SACS	NM_014363.6(SACS):c.961C>T:p.Arg321Ter	coding	Pathogenic
13	23355703	T	C	T23355703C	SACS	NM_014363.6(SACS):c.909A>G:p.Ala303=	coding	Benign/Likely_benign
13	23355798	G	A	G23355798A	SACS	NM_014363.6(SACS):c.814C>T:p.Arg272Cys	coding	Pathogenic/Likely_pathogenic
13	23355916	A	T	A23355916T	SACS	NM_014363.6(SACS):c.696T>A:p.Asn232Lys	coding	Benign/Likely_benign
13	23358422	G	A	G23358422A	SACS	NM_014363.6(SACS):c.517C>T:p.Gln173Ter	coding	Pathogenic
13	23365189	G	C	G23365189C	SACS	NM_014363.6(SACS):c.434C>G:p.Ser145Ter	coding	Pathogenic/Likely_pathogenic
13	23365324	C	T	C23365324T	SACS	NM_014363.6(SACS):c.346-47G>A	noncoding	Benign
13	23368485	G	A	G23368485A	SACS	NM_014363.6(SACS):c.262C>T:p.Arg88Ter	coding	Pathogenic
13	23371150	T	A	T23371150A	SACS	NM_014363.6(SACS):c.187A>T:p.Lys63Ter	coding	Pathogenic
13	23375113	G	A	G23375113A	SACS	NM_014363.6(SACS):c.171+6C>T	noncoding	Benign/Likely_benign
13	23375267	C	T	C23375267T	SACS	NM_014363.6(SACS):c.23G>A:p.Trp8Ter	coding	Pathogenic
13	23411252	T	C	T23411252C	SACS	NM_014363.6(SACS):c.-13A>G	noncoding	Benign/Likely_benign
13	23593341	T	C	T23593341C	TNFRSF19	NM_148957.4(TNFRSF19):c.70-4T>C	noncoding	Benign
13	23756612	G	A	G23756612A	MIPEP	NM_005932.4(MIPEP):c.1977C>T:p.Ala659=	coding	Benign
13	23760142	C	T	C23760142T	MIPEP	NM_005932.4(MIPEP):c.1924G>A:p.Ala642Thr	coding	Benign
13	23805994	C	A	C23805994A	MIPEP	NM_005932.4(MIPEP):c.1804G>T:p.Glu602Ter	coding	Pathogenic
13	23805994	C	T	C23805994T	MIPEP	NM_005932.4(MIPEP):c.1804G>A:p.Glu602Lys	coding	Benign
13	23806024	G	A	G23806024A	MIPEP	NM_005932.4(MIPEP):c.1774C>T:p.Leu592=	coding	Benign
13	23809843	T	C	T23809843C	MIPEP	NM_005932.4(MIPEP):c.1728+7A>G	noncoding	Benign
13	23809927	T	C	T23809927C	MIPEP	NM_005932.4(MIPEP):c.1654-3A>G	noncoding	Benign
13	23836321	C	T	C23836321T	MIPEP	NM_005932.4(MIPEP):c.1572G>A:p.Glu524=	coding	Benign
13	23839676	A	G	A23839676G	MIPEP	NM_005932.4(MIPEP):c.1311T>C:p.Phe437=	coding	Benign
13	23841329	G	A	G23841329A	MIPEP	NM_005932.4(MIPEP):c.1260+6C>T	noncoding	Benign
13	23869335	C	T	C23869335T	MIPEP	NM_005932.4(MIPEP):c.900G>A:p.Thr300=	coding	Benign
13	23869431	A	G	A23869431G	MIPEP	NM_005932.4(MIPEP):c.804T>C:p.Tyr268=	coding	Benign
13	23870056	T	C	T23870056C	MIPEP	NM_005932.4(MIPEP):c.743A>G:p.His248Arg	coding	Benign
13	23870128	T	C	T23870128C	MIPEP	NM_005932.4(MIPEP):c.671A>G:p.Asn224Ser	coding	Benign
13	23870180	C	T	C23870180T	MIPEP	NM_005932.4(MIPEP):c.619G>A:p.Asp207Asn	coding	Benign
13	23886416	G	A	G23886416A	MIPEP	NM_005932.4(MIPEP):c.280C>T:p.Arg94Cys	coding	Benign
13	23889275	C	A	C23889275A	MIPEP	NM_005932.4(MIPEP):c.46G>T:p.Ala16Ser	coding	Benign
13	23891334	G	A	G23891334A	C1QTNF9B	NM_001007537.2(C1QTNF9B):c.957C>T:p.Asp319=	coding	Benign
13	23891461	C	T	C23891461T	C1QTNF9B	NM_001007537.2(C1QTNF9B):c.830G>A:p.Arg277Lys	coding	Benign
13	23891564	A	T	A23891564T	C1QTNF9B	NM_001007537.2(C1QTNF9B):c.727T>A:p.Cys243Ser	coding	Benign
13	24441870	C	T	C24441870T	PARP4	NM_006437.4(PARP4):c.3642G>A:p.Glu1214=	coding	Benign
13	24441954	C	T	C24441954T	PARP4	NM_006437.4(PARP4):c.3558G>A:p.Ser1186=	coding	Benign
13	24447107	A	G	A24447107G	PARP4	NM_006437.4(PARP4):c.3194T>C:p.Val1065Ala	coding	Benign
13	24452448	T	C	T24452448C	PARP4	NM_006437.4(PARP4):c.2972A>G:p.Lys991Arg	coding	Benign
13	24455072	A	G	A24455072G	PARP4	NM_006437.4(PARP4):c.2703T>C:p.His901=	coding	Benign
13	24484717	G	A	G24484717A	PARP4	NM_006437.4(PARP4):c.1384C>T:p.Arg462Cys	coding	Benign
13	24500365	G	C	G24500365C	PARP4	NM_006437.4(PARP4):c.352C>G:p.Leu118Val	coding	Benign
13	24690963	G	A	G24690963A	ATP12A	NM_001185085.1(ATP12A):c.800-1G>A	noncoding	Benign
13	24709819	G	A	G24709819A	ATP12A	NM_001185085.1(ATP12A):c.2772G>A:p.Gly924=	coding	Benign
13	24793154	A	G	A24793154G	RNF17	NM_031277.3(RNF17):c.1048A>G:p.Met350Val	coding	Benign
13	24793206	A	G	A24793206G	RNF17	NM_031277.3(RNF17):c.1100A>G:p.Asn367Ser	coding	Benign
13	24793250	G	A	G24793250A	RNF17	NM_031277.3(RNF17):c.1144G>A:p.Val382Ile	coding	Benign
13	24800400	G	T	G24800400T	RNF17	NM_031277.3(RNF17):c.1624G>T:p.Ala542Ser	coding	Benign
13	24844644	C	T	C24844644T	RNF17	NM_031277.3(RNF17):c.2832-8C>T	noncoding	Benign
13	24861258	C	T	C24861258T	RNF17	NM_031277.3(RNF17):c.3775-10C>T	noncoding	Benign
13	24877063	G	A	G24877063A	RNF17	NM_031277.3(RNF17):c.4650G>A:p.Gly1550=	coding	Benign
13	24879271	G	T	G24879271T	RNF17	NM_031277.3(RNF17):c.4858G>T:p.Asp1620Tyr	coding	Benign
13	24882538	A	G	A24882538G	CENPJ	NM_018451.5(CENPJ):c.*639T>C	noncoding	Benign
13	24882554	T	C	T24882554C	CENPJ	NM_018451.5(CENPJ):c.*623A>G	noncoding	Benign
13	24882607	A	G	A24882607G	CENPJ	NM_018451.5(CENPJ):c.*570T>C	noncoding	Benign/Likely_benign
13	24882773	G	A	G24882773A	CENPJ	NM_018451.5(CENPJ):c.*404C>T	noncoding	Benign
13	24882779	T	C	T24882779C	CENPJ	NM_018451.5(CENPJ):c.*398A>G	noncoding	Benign
13	24883457	G	T	G24883457T	CENPJ	NM_018451.5(CENPJ):c.3825-88C>A	noncoding	Benign
13	24884083	T	A	T24884083A	CENPJ	NM_018451.5(CENPJ):c.3704A>T:p.Glu1235Val	coding	Pathogenic
13	24884355	C	T	C24884355T	CENPJ	NM_018451.5(CENPJ):c.3586G>A:p.Asp1196Asn	coding	Pathogenic
13	24884512	G	A	G24884512A	CENPJ	NM_018451.5(CENPJ):c.3478-49C>T	noncoding	Benign
13	24884715	T	G	T24884715G	CENPJ	NM_018451.5(CENPJ):c.3478-252A>C	noncoding	Benign
13	24885132	C	T	C24885132T	CENPJ	NM_018451.5(CENPJ):c.3477+144G>A	noncoding	Benign
13	24885305	G	A	G24885305A	CENPJ	NM_018451.5(CENPJ):c.3448C>T:p.Gln1150Ter	coding	Pathogenic
13	24885398	A	G	A24885398G	CENPJ	NM_018451.5(CENPJ):c.3367-12T>C	noncoding	Benign
13	24885519	G	A	G24885519A	CENPJ	NM_018451.5(CENPJ):c.3366+87C>T	noncoding	Benign
13	24885671	C	G	C24885671G	CENPJ	NM_018451.5(CENPJ):c.3302-1G>C	coding	Pathogenic
13	24892636	T	C	T24892636C	CENPJ	NM_018451.5(CENPJ):c.3216+7A>G	noncoding	Benign
13	24892817	T	C	T24892817C	CENPJ	NM_018451.5(CENPJ):c.3042A>G:p.Glu1014=	coding	Benign
13	24893003	G	A	G24893003A	CENPJ	NM_018451.5(CENPJ):c.2992-136C>T	noncoding	Benign
13	24899538	G	A	G24899538A	CENPJ	NM_018451.5(CENPJ):c.2872C>T:p.Arg958Ter	coding	Pathogenic/Likely_pathogenic
13	24903945	T	C	T24903945C	CENPJ	NM_018451.5(CENPJ):c.2806A>G:p.Ser936Gly	coding	Benign/Likely_benign
13	24905360	T	G	T24905360G	CENPJ	NM_018451.5(CENPJ):c.2678A>C:p.Gln893Pro	coding	Benign
13	24905403	A	C	A24905403C	CENPJ	NM_018451.5(CENPJ):c.2635T>G:p.Ser879Ala	coding	Benign
13	24906007	G	A	G24906007A	CENPJ	NM_018451.5(CENPJ):c.2031C>T:p.Ala677=	coding	Benign
13	24906069	G	A	G24906069A	CENPJ	NM_018451.5(CENPJ):c.1969C>T:p.Gln657Ter	coding	Pathogenic
13	24906130	G	C	G24906130C	CENPJ	NM_018451.5(CENPJ):c.1908C>G:p.Arg636=	coding	Benign/Likely_benign
13	24906157	C	T	C24906157T	CENPJ	NM_018451.5(CENPJ):c.1881G>A:p.Pro627=	coding	Benign
13	24906342	G	A	G24906342A	CENPJ	NM_018451.5(CENPJ):c.1696C>T:p.Arg566Ter	coding	Pathogenic
13	24906452	G	C	G24906452C	CENPJ	NM_018451.5(CENPJ):c.1586C>G:p.Ser529Ter	coding	Pathogenic/Likely_pathogenic
13	24906478	T	A	T24906478A	CENPJ	NM_018451.5(CENPJ):c.1560A>T:p.Thr520=	coding	Benign
13	24906699	T	A	T24906699A	CENPJ	NM_018451.5(CENPJ):c.1339A>T:p.Lys447Ter	coding	Pathogenic
13	24906786	G	A	G24906786A	CENPJ	NM_018451.5(CENPJ):c.1252C>T:p.Gln418Ter	coding	Pathogenic
13	24906805	C	T	C24906805T	CENPJ	NM_018451.5(CENPJ):c.1233G>A:p.Pro411=	coding	Benign/Likely_benign
13	24906906	G	A	G24906906A	CENPJ	NM_018451.5(CENPJ):c.1132C>T:p.Arg378Ter	coding	Pathogenic/Likely_pathogenic
13	24907476	T	C	T24907476C	CENPJ	NM_018451.5(CENPJ):c.975-283A>G	noncoding	Benign
13	24907740	C	T	C24907740T	CENPJ	NM_018451.5(CENPJ):c.974+278G>A	noncoding	Benign
13	24908370	G	A	G24908370A	CENPJ	NM_018451.5(CENPJ):c.866-244C>T	noncoding	Benign
13	24909845	T	C	T24909845C	CENPJ	NM_018451.5(CENPJ):c.810A>G:p.Gln270=	coding	Benign/Likely_benign
13	24909892	T	C	T24909892C	CENPJ	NM_018451.5(CENPJ):c.763A>G:p.Thr255Ala	coding	Benign/Likely_benign
13	24912045	G	A	G24912045A	CENPJ	NM_018451.5(CENPJ):c.469C>T:p.Gln157Ter	coding	Pathogenic
13	24912149	C	T	C24912149T	CENPJ	NM_018451.5(CENPJ):c.445-80G>A	noncoding	Benign
13	24912377	C	T	C24912377T	CENPJ	NM_018451.5(CENPJ):c.444+205G>A	noncoding	Benign
13	24912407	A	T	A24912407T	CENPJ	NM_018451.5(CENPJ):c.444+175T>A	noncoding	Benign
13	24912739	T	C	T24912739C	CENPJ	NM_018451.5(CENPJ):c.287A>G:p.His96Arg	coding	Benign/Likely_benign
13	24912773	G	T	G24912773T	CENPJ	NM_018451.5(CENPJ):c.253C>A:p.Pro85Thr	coding	Benign
13	24912839	C	G	C24912839G	CENPJ	NM_018451.5(CENPJ):c.187G>C:p.Asp63His	coding	Benign
13	24912863	G	C	G24912863C	CENPJ	NM_018451.5(CENPJ):c.163C>G:p.Pro55Ala	coding	Benign/Likely_benign
13	24912958	T	C	T24912958C	CENPJ	NM_018451.5(CENPJ):c.68A>G:p.Asn23Ser	coding	Benign
13	24912965	T	A	T24912965A	CENPJ	NM_018451.5(CENPJ):c.61A>T:p.Met21Leu	coding	Benign
13	24912965	T	C	T24912965C	CENPJ	NM_018451.5(CENPJ):c.61A>G:p.Met21Val	coding	Benign
13	24912967	C	T	C24912967T	CENPJ	NM_018451.5(CENPJ):c.59G>A:p.Trp20Ter	coding	Pathogenic
13	24912986	G	A	G24912986A	CENPJ	NM_018451.5(CENPJ):c.40C>T:p.Gln14Ter	coding	Pathogenic
13	25327027	C	G	C25327027G	NUP58	NM_014089.4(NUP58):c.1143C>G:p.Thr381=	coding	Benign
13	25553863	C	G	C25553863G	ATP8A2	NM_016529.6(ATP8A2):c.1128C>G:p.Ile376Met	coding	Pathogenic
13	25559748	G	A	G25559748A	ATP8A2	NM_016529.6(ATP8A2):c.1380G>A:p.Pro460=	coding	Benign
13	25577147	C	T	C25577147T	ATP8A2	NM_016529.6(ATP8A2):c.1782+9C>T	noncoding	Benign
13	25862409	G	A	G25862409A	ATP8A2	NM_016529.6(ATP8A2):c.3183+1G>A	coding	Pathogenic
13	26214167	C	T	C26214167T	RNF6	NM_005977.4(RNF6):c.1715G>A:p.Arg572Gln	coding	Benign
13	26214793	T	C	T26214793C	RNF6	NM_005977.4(RNF6):c.1089A>G:p.Ala363=	coding	Benign
13	26215151	C	T	C26215151T	RNF6	NM_005977.4(RNF6):c.731G>A:p.Gly244Asp	coding	Pathogenic
13	26215158	C	T	C26215158T	RNF6	NM_005977.4(RNF6):c.724G>A:p.Ala242Thr	coding	Pathogenic
13	26215577	C	T	C26215577T	RNF6	NM_005977.4(RNF6):c.305G>A:p.Arg102Lys	coding	Pathogenic
13	26218551	T	C	T26218551C	RNF6	NM_005977.4(RNF6):c.249A>G:p.Leu83=	coding	Benign
13	26254726	C	G	C26254726G	CDK8	NM_001260.3(CDK8):c.85C>G:p.Arg29Gly	coding	Pathogenic
13	26254729	G	A	G26254729A	CDK8	NM_001260.3(CDK8):c.88G>A:p.Gly30Ser	coding	Pathogenic
13	26254729	G	T	G26254729T	CDK8	NM_001260.3(CDK8):c.88G>T:p.Gly30Cys	coding	Pathogenic
13	26337623	C	A	C26337623A	CDK8	NM_001260.3(CDK8):c.185C>A:p.Ser62Ter	coding	Pathogenic
13	26337623	C	T	C26337623T	CDK8	NM_001260.3(CDK8):c.185C>T:p.Ser62Leu	coding	Pathogenic
13	26393389	A	G	A26393389G	CDK8	NM_001260.3(CDK8):c.669A>G:p.Ile223Met	coding	Pathogenic
13	26665018	T	C	T26665018C	WASF3	NM_006646.6(WASF3):c.134-10T>C	noncoding	Benign
13	26681300	G	A	G26681300A	WASF3	NM_006646.6(WASF3):c.963G>A:p.Pro321=	coding	Benign
13	26682932	A	G	A26682932G	WASF3	NM_006646.6(WASF3):c.1309A>G:p.Ile437Val	coding	Benign
13	26685839	C	T	C26685839T	WASF3	NM_006646.6(WASF3):c.1503C>T:p.Ser501=	coding	Benign
13	26759330	C	T	C26759330T	GPR12	NM_005288.4(GPR12):c.498G>A:p.Gly166=	coding	Benign
13	27254247	G	A	G27254247A	RPL21	NM_000982.3(RPL21):c.95G>A:p.Arg32Gln	coding	Pathogenic
13	27556336	G	A	G27556336A	LNX2	NM_153371.4(LNX2):c.1446C>T:p.Thr482=	coding	Benign
13	27622987	G	A	G27622987A	POLR1D	NM_015972.4(POLR1D):c.139G>A:p.Glu47Lys	coding	Pathogenic
13	27623000	T	G	T27623000G	POLR1D	NM_015972.4(POLR1D):c.152T>G:p.Leu51Arg	coding	Pathogenic
13	27623011	C	G	C27623011G	POLR1D	NM_015972.4(POLR1D):c.163C>G:p.Leu55Val	coding	Pathogenic
13	27623107	C	T	C27623107T	POLR1D	NM_015972.4(POLR1D):c.259C>T:p.Arg87Ter	coding	Pathogenic
13	27623109	A	G	A27623109G	POLR1D	NM_015972.4(POLR1D):c.261A>G:p.Arg87=	coding	Benign
13	27665701	T	C	T27665701C	POLR1D	NM_152705.3(POLR1D):c.117T>C:p.Leu39=	coding	Benign
13	27665862	A	G	A27665862G	POLR1D	NM_152705.3(POLR1D):c.278A>G:p.His93Arg	coding	Benign
13	27665884	C	T	C27665884T	POLR1D	NM_152705.3(POLR1D):c.300C>T:p.Ser100=	coding	Benign
13	27665938	G	T	G27665938T	POLR1D	NM_152705.3(POLR1D):c.354G>T:p.Arg118=	coding	Benign
13	27793053	G	A	G27793053A	GSX1	NM_145657.3(GSX1):c.363G>A:p.Gln121=	coding	Benign
13	27793054	A	T	A27793054T	GSX1	NM_145657.3(GSX1):c.364A>T:p.Thr122Ser	coding	Benign
13	27919860	G	A	G27919860A	PDX1	NC_000013.11:g.27919860G>A	noncoding	Benign
13	27920144	C	T	C27920144T	PDX1	NM_000209.4(PDX1):c.6C>T:p.Asn2=	coding	Benign/Likely_benign
13	27920300	G	A	G27920300A	PDX1	NM_000209.4(PDX1):c.162G>A:p.Leu54=	coding	Benign/Likely_benign
13	27920303	C	A	C27920303A	PDX1	NM_000209.4(PDX1):c.165C>A:p.Gly55=	coding	Benign/Likely_benign
13	27920474	C	G	C27920474G	PDX1	NM_000209.4(PDX1):c.336C>G:p.Pro112=	coding	Benign/Likely_benign
13	27920812	C	G	C27920812G	PDX1	NM_000209.4(PDX1):c.406+268C>G	noncoding	Benign
13	27923965	G	A	G27923965A	PDX1	NM_000209.4(PDX1):c.407-291G>A	noncoding	Benign
13	27924186	G	C	G27924186C	PDX1	NM_000209.4(PDX1):c.407-70G>C	noncoding	Benign
13	27924188	G	T	G27924188T	PDX1	NM_000209.4(PDX1):c.407-68G>T	noncoding	Benign
13	27924381	G	A	G27924381A	PDX1	NM_000209.4(PDX1):c.532G>A:p.Glu178Lys	coding	Pathogenic
13	27924382	A	G	A27924382G	PDX1	NM_000209.4(PDX1):c.533A>G:p.Glu178Gly	coding	Pathogenic
13	27924542	C	T	C27924542T	PDX1	NM_000209.4(PDX1):c.693C>T:p.Ser231=	coding	Benign
13	27924565	C	A	C27924565A	PDX1	NM_000209.4(PDX1):c.716C>A:p.Pro239Gln	coding	Benign/Likely_benign
13	28004055	C	T	C28004055T	FLT3	NM_004119.3(FLT3):c.2979G>A:p.Ser993=	coding	Benign
13	28004072	C	G	C28004072G	FLT3	NM_004119.3(FLT3):c.2962G>C:p.Ala988Pro	coding	Benign
13	28018500	G	C	G28018500C	FLT3	NM_004119.3(FLT3):c.2508C>G:p.Ile836Met	coding	Pathogenic
13	28018502	T	G	T28018502G	FLT3	NM_004119.3(FLT3):c.2506A>C:p.Ile836Leu	coding	Pathogenic
13	28018503	A	C	A28018503C	FLT3	NM_004119.3(FLT3):c.2505T>G:p.Asp835Glu	coding	Pathogenic
13	28018503	A	T	A28018503T	FLT3	NM_004119.3(FLT3):c.2505T>A:p.Asp835Glu	coding	Pathogenic
13	28018504	T	A	T28018504A	FLT3	NM_004119.3(FLT3):c.2504A>T:p.Asp835Val	coding	Pathogenic
13	28018504	T	G	T28018504G	FLT3	NM_004119.3(FLT3):c.2504A>C:p.Asp835Ala	coding	Pathogenic
13	28018505	C	A	C28018505A	FLT3	NM_004119.3(FLT3):c.2503G>T:p.Asp835Tyr	coding	Pathogenic
13	28018505	C	G	C28018505G	FLT3	NM_004119.3(FLT3):c.2503G>C:p.Asp835His	coding	Pathogenic
13	28018505	C	T	C28018505T	FLT3	NM_004119.3(FLT3):c.2503G>A:p.Asp835Asn	coding	Pathogenic
13	28023353	C	T	C28023353T	FLT3	NM_004119.3(FLT3):c.2415G>A:p.Lys805=	coding	Benign
13	28034104	A	G	A28034104G	FLT3	NM_004119.3(FLT3):c.1815T>C:p.Phe605=	coding	Benign
13	28034146	G	A	G28034146A	FLT3	NM_004119.3(FLT3):c.1773C>T:p.Tyr591=	coding	Benign
13	28035514	C	G	C28035514G	FLT3	NM_004119.3(FLT3):c.1578G>C:p.Thr526=	coding	Benign
13	28037216	T	C	T28037216C	FLT3	NM_004119.3(FLT3):c.1278A>G:p.Gln426=	coding	Benign
13	28037245	T	G	T28037245G	FLT3	NM_004119.3(FLT3):c.1249A>C:p.Ile417Leu	coding	Benign
13	28048407	T	A	T28048407A	FLT3	NM_004119.3(FLT3):c.1073A>T:p.Asp358Val	coding	Benign
13	28049783	T	C	T28049783C	FLT3	NM_004119.3(FLT3):c.743-9A>G	noncoding	Benign
13	28052579	C	T	C28052579T	FLT3	NM_004119.3(FLT3):c.580G>A:p.Val194Met	coding	Benign
13	28057339	G	A	G28057339A	FLT3	NM_004119.3(FLT3):c.484+8C>T	noncoding	Benign
13	28070560	C	G	C28070560G	FLT3	NM_004119.3(FLT3):c.96G>C:p.Val32=	coding	Benign
13	28319544	G	A	G28319544A	FLT1	NM_002019.4(FLT1):c.3175-10C>T	noncoding	Benign
13	28339274	G	A	G28339274A	FLT1	NM_002019.4(FLT1):c.2382C>T:p.Tyr794=	coding	Benign
13	28384940	G	A	G28384940A	FLT1	NM_002019.4(FLT1):c.2061C>T:p.Val687=	coding	Benign
13	28405857	G	A	G28405857A	FLT1	NM_002019.4(FLT1):c.1474C>T:p.Leu492=	coding	Benign
13	28427293	G	A	G28427293A	FLT1	NM_002019.4(FLT1):c.1302C>T:p.Ala434=	coding	Benign
13	28430061	C	T	C28430061T	FLT1	NM_002019.4(FLT1):c.1095G>A:p.Pro365=	coding	Benign
13	28433852	C	T	C28433852T	FLT1	NM_002019.4(FLT1):c.780G>A:p.Thr260=	coding	Benign
13	28438329	G	A	G28438329A	FLT1	NM_002019.4(FLT1):c.405C>T:p.Phe135=	coding	Benign
13	28494828	C	T	C28494828T	FLT1	NM_002019.4(FLT1):c.16G>A:p.Asp6Asn	coding	Benign
13	29025692	C	T	C29025692T	MTUS2	NM_001033602.3(MTUS2):c.994C>T:p.Leu332=	coding	Benign
13	29025918	A	T	A29025918T	MTUS2	NM_001033602.3(MTUS2):c.1220A>T:p.Asp407Val	coding	Benign
13	29359446	C	T	C29359446T	MTUS2	NM_001033602.3(MTUS2):c.3090C>T:p.Ala1030=	coding	Benign
13	29503080	G	A	G29503080A	MTUS2	NM_015233.6(MTUS2):c.921G>A:p.Glu307=	coding	Benign
13	29517201	G	A	G29517201A	SLC7A1	NM_003045.5(SLC7A1):c.1620C>T:p.Ala540=	coding	Benign
13	29517299	T	C	T29517299C	SLC7A1	NM_003045.5(SLC7A1):c.1522A>G:p.Ile508Val	coding	Benign
13	29519488	G	C	G29519488C	SLC7A1	NM_003045.5(SLC7A1):c.1251C>G:p.Leu417=	coding	Benign
13	29522324	G	A	G29522324A	SLC7A1	NM_003045.5(SLC7A1):c.1182C>T:p.Ala394=	coding	Benign
13	29532873	C	T	C29532873T	SLC7A1	NM_003045.5(SLC7A1):c.480G>A:p.Leu160=	coding	Benign
13	29532921	G	A	G29532921A	SLC7A1	NM_003045.5(SLC7A1):c.432C>T:p.Ile144=	coding	Benign
13	30744112	C	T	C30744112T	ALOX5AP	NM_001629.3(ALOX5AP):c.123C>T:p.Ser41=	coding	Benign
13	30968931	G	T	G30968931T	TEX26	NM_152325.3(TEX26):c.693G>T:p.Lys231Asn	coding	Benign
13	31138435	C	T	C31138435T	HSPH1	NM_006644.4(HSPH1):c.2342G>A:p.Arg781His	coding	Benign
13	31141251	T	C	T31141251C	HSPH1	NM_006644.4(HSPH1):c.1725A>G:p.Glu575=	coding	Benign
13	31148034	G	C	G31148034C	HSPH1	NM_006644.4(HSPH1):c.1303C>G:p.Leu435Val	coding	Benign
13	31247011	T	C	T31247011C	B3GLCT	NM_194318.4(B3GLCT):c.271-12T>C	noncoding	Benign
13	31247067	A	G	A31247067G	B3GLCT	NM_194318.4(B3GLCT):c.315A>G:p.Glu105=	coding	Benign
13	31247103	C	T	C31247103T	B3GLCT	NM_194318.4(B3GLCT):c.347+4C>T	noncoding	Benign
13	31247104	G	A	G31247104A	B3GLCT	NM_194318.4(B3GLCT):c.347+5G>A	noncoding	Pathogenic
13	31247119	C	G	C31247119G	B3GLCT	NM_194318.4(B3GLCT):c.347+20C>G	noncoding	Benign
13	31247855	T	C	T31247855C	B3GLCT	NM_194318.4(B3GLCT):c.348T>C:p.His116=	coding	Benign
13	31247957	C	A	C31247957A	B3GLCT	NM_194318.4(B3GLCT):c.450C>A:p.Asp150Glu	coding	Benign/Likely_benign
13	31247967	G	A	G31247967A	B3GLCT	NM_194318.4(B3GLCT):c.459+1G>A	coding	Pathogenic/Likely_pathogenic
13	31269278	G	A	G31269278A	B3GLCT	NM_194318.4(B3GLCT):c.660+1G>A	coding	Pathogenic
13	31274520	C	T	C31274520T	B3GLCT	NM_194318.4(B3GLCT):c.672C>T:p.Tyr224=	coding	Benign
13	31274581	G	A	G31274581A	B3GLCT	NM_194318.4(B3GLCT):c.733G>A:p.Val245Met	coding	Benign/Likely_benign
13	31284699	A	T	A31284699T	B3GLCT	NM_194318.4(B3GLCT):c.902A>T:p.Tyr301Phe	coding	Benign
13	31286829	C	T	C31286829T	B3GLCT	NM_194318.4(B3GLCT):c.1064+10C>T	noncoding	Benign
13	31317565	G	A	G31317565A	B3GLCT	NM_194318.4(B3GLCT):c.1065-1G>A	noncoding	Pathogenic
13	31317599	T	A	T31317599A	B3GLCT	NM_194318.4(B3GLCT):c.1098T>A:p.Tyr366Ter	coding	Pathogenic
13	31317606	G	A	G31317606A	B3GLCT	NM_194318.4(B3GLCT):c.1105G>A:p.Gly369Ser	coding	Benign
13	31317609	G	A	G31317609A	B3GLCT	NM_194318.4(B3GLCT):c.1108G>A:p.Glu370Lys	coding	Benign
13	31317635	C	T	C31317635T	B3GLCT	NM_194318.4(B3GLCT):c.1134C>T:p.Tyr378=	coding	Benign
13	31317679	G	A	G31317679A	B3GLCT	NM_194318.4(B3GLCT):c.1178G>A:p.Gly393Glu	coding	Pathogenic
13	31323745	C	G	C31323745G	B3GLCT	NM_194318.4(B3GLCT):c.1185-6C>G	noncoding	Benign/Likely_benign
13	31329697	G	T	G31329697T	B3GLCT	NM_194318.4(B3GLCT):c.*29G>T	noncoding	Benign
13	31329704	A	G	A31329704G	B3GLCT	NM_194318.4(B3GLCT):c.*36A>G	noncoding	Benign
13	31330305	A	G	A31330305G	B3GLCT	NM_194318.4(B3GLCT):c.*637A>G	noncoding	Benign
13	31330557	A	G	A31330557G	B3GLCT	NM_194318.4(B3GLCT):c.*889A>G	noncoding	Benign
13	31330865	A	T	A31330865T	B3GLCT	NM_194318.4(B3GLCT):c.*1197A>T	noncoding	Benign
13	31331184	A	G	A31331184G	B3GLCT	NM_194318.4(B3GLCT):c.*1516A>G	noncoding	Benign
13	31331312	A	T	A31331312T	B3GLCT	NM_194318.4(B3GLCT):c.*1644A>T	noncoding	Benign
13	31331361	G	C	G31331361C	B3GLCT	NM_194318.4(B3GLCT):c.*1693G>C	noncoding	Benign
13	31331469	A	G	A31331469G	B3GLCT	NM_194318.4(B3GLCT):c.*1801A>G	noncoding	Benign
13	31331504	G	A	G31331504A	B3GLCT	NM_194318.4(B3GLCT):c.*1836G>A	noncoding	Benign
13	31331735	A	G	A31331735G	B3GLCT	NM_194318.4(B3GLCT):c.*2067A>G	noncoding	Benign
13	31331750	G	T	G31331750T	B3GLCT	NM_194318.4(B3GLCT):c.*2082G>T	noncoding	Benign
13	31331769	T	C	T31331769C	B3GLCT	NM_194318.4(B3GLCT):c.*2101T>C	noncoding	Benign
13	31331805	T	C	T31331805C	B3GLCT	NM_194318.4(B3GLCT):c.*2137T>C	noncoding	Benign
13	31331856	T	A	T31331856A	B3GLCT	NM_194318.4(B3GLCT):c.*2188T>A	noncoding	Benign
13	31332004	A	C	A31332004C	B3GLCT	NM_194318.4(B3GLCT):c.*2336A>C	noncoding	Benign
13	31332114	A	G	A31332114G	B3GLCT	NM_194318.4(B3GLCT):c.*2446A>G	noncoding	Benign
13	31332154	T	C	T31332154C	B3GLCT	NM_194318.4(B3GLCT):c.*2486T>C	noncoding	Benign
13	31789201	T	C	T31789201C	RXFP2	NM_130806.5(RXFP2):c.1145+8T>C	noncoding	Benign
13	32078841	C	T	C32078841T	FRY	NM_023037.3(FRY):c.78C>T:p.Pro26=	coding	Benign
13	32155568	G	A	G32155568A	FRY	NM_023037.3(FRY):c.1557G>A:p.Pro519=	coding	Benign
13	32161153	A	G	A32161153G	FRY	NM_023037.3(FRY):c.1794A>G:p.Arg598=	coding	Benign
13	32171040	C	A	C32171040A	FRY	NM_023037.3(FRY):c.1921C>A:p.Arg641=	coding	Benign
13	32171159	A	T	A32171159T	FRY	NM_023037.3(FRY):c.2040A>T:p.Thr680=	coding	Benign
13	32173432	C	T	C32173432T	FRY	NM_023037.3(FRY):c.2217C>T:p.His739=	coding	Benign
13	32173456	T	C	T32173456C	FRY	NM_023037.3(FRY):c.2241T>C:p.Val747=	coding	Benign
13	32184602	C	T	C32184602T	FRY	NM_023037.3(FRY):c.3057C>T:p.Asn1019=	coding	Benign
13	32187538	A	G	A32187538G	FRY	NM_023037.3(FRY):c.3481-8A>G	noncoding	Benign
13	32194286	G	A	G32194286A	FRY	NM_023037.3(FRY):c.3735G>A:p.Val1245=	coding	Benign
13	32194291	G	A	G32194291A	FRY	NM_023037.3(FRY):c.3740G>A:p.Gly1247Glu	coding	Benign
13	32202439	G	A	G32202439A	FRY	NM_023037.3(FRY):c.3930G>A:p.Pro1310=	coding	Benign
13	32202467	G	A	G32202467A	FRY	NM_023037.3(FRY):c.3958G>A:p.Ala1320Thr	coding	Benign
13	32208860	C	T	C32208860T	FRY	NM_023037.3(FRY):c.4026C>T:p.Ser1342=	coding	Benign
13	32208911	C	T	C32208911T	FRY	NM_023037.3(FRY):c.4077C>T:p.Tyr1359=	coding	Benign
13	32209031	C	T	C32209031T	FRY	NM_023037.3(FRY):c.4197C>T:p.His1399=	coding	Benign
13	32210965	G	A	G32210965A	FRY	NM_023037.3(FRY):c.4522G>A:p.Val1508Ile	coding	Benign
13	32210994	C	T	C32210994T	FRY	NM_023037.3(FRY):c.4551C>T:p.Tyr1517=	coding	Benign
13	32228592	T	C	T32228592C	FRY	NM_023037.3(FRY):c.5343T>C:p.Asp1781=	coding	Benign
13	32237505	A	G	A32237505G	FRY	NM_023037.3(FRY):c.5937A>G:p.Gln1979=	coding	Benign
13	32239307	T	C	T32239307C	FRY	NM_023037.3(FRY):c.6474T>C:p.Asn2158=	coding	Benign
13	32239316	G	A	G32239316A	FRY	NM_023037.3(FRY):c.6483G>A:p.Gln2161=	coding	Benign
13	32254220	G	A	G32254220A	FRY	NM_023037.3(FRY):c.7246-4G>A	noncoding	Benign
13	32254323	A	G	A32254323G	FRY	NM_023037.3(FRY):c.7345A>G:p.Thr2449Ala	coding	Benign
13	32261826	G	A	G32261826A	FRY	NM_023037.3(FRY):c.7617+10G>A	noncoding	Benign
13	32265494	T	C	T32265494C	FRY	NM_023037.3(FRY):c.7824T>C:p.Asp2608=	coding	Benign
13	32265536	A	G	A32265536G	FRY	NM_023037.3(FRY):c.7866A>G:p.Glu2622=	coding	Benign
13	32314943	A	G	A32314943G	BRCA2	NM_000059.3(BRCA2):c.-764A>G	noncoding	Benign
13	32315226	G	A	G32315226A	BRCA2	NM_000059.3(BRCA2):c.-481G>A	noncoding	Benign
13	32315532	C	T	C32315532T	BRCA2	NM_000059.3(BRCA2):c.-175C>T	noncoding	Benign
13	32315545	G	A	G32315545A	BRCA2	NM_000059.3(BRCA2):c.-162G>A	noncoding	Benign
13	32315655	A	G	A32315655G	BRCA2	NM_000059.3(BRCA2):c.-52A>G	noncoding	Benign
13	32315831	G	A	G32315831A	BRCA2	NM_000059.3(BRCA2):c.-40+164G>A	noncoding	Benign
13	32315859	C	T	C32315859T	BRCA2	NM_000059.3(BRCA2):c.-40+192C>T	noncoding	Benign
13	32315889	C	T	C32315889T	BRCA2	NM_000059.3(BRCA2):c.-40+222C>T	noncoding	Benign
13	32316027	G	A	G32316027A	BRCA2	NM_000059.3(BRCA2):c.-40+360G>A	noncoding	Benign
13	32316090	G	T	G32316090T	BRCA2	NM_000059.3(BRCA2):c.-39-332G>T	noncoding	Benign
13	32316396	G	A	G32316396A	BRCA2	NM_000059.3(BRCA2):c.-39-26G>A	noncoding	Benign
13	32316420	A	G	A32316420G	BRCA2	NM_000059.3(BRCA2):c.-39-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	32316421	G	A	G32316421A	BRCA2	NM_000059.3(BRCA2):c.-39-1G>A	noncoding	Pathogenic
13	32316435	G	A	G32316435A	BRCA2	NM_000059.3(BRCA2):c.-26G>A	noncoding	Benign
13	32316435	G	C	G32316435C	BRCA2	NM_000059.3(BRCA2):c.-26G>C	noncoding	Benign
13	32316435	G	T	G32316435T	BRCA2	NM_000059.3(BRCA2):c.-26G>T	noncoding	Benign
13	32316446	A	C	A32316446C	BRCA2	NM_000059.4(BRCA2):c.-15A>C	noncoding	Benign/Likely_benign
13	32316450	C	T	C32316450T	BRCA2	NM_000059.3(BRCA2):c.-11C>T	noncoding	Benign
13	32316461	A	G	A32316461G	BRCA2	NM_000059.3(BRCA2):c.1A>G:p.Met1Val	coding	Pathogenic
13	32316462	T	C	T32316462C	BRCA2	NM_000059.3(BRCA2):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
13	32316462	T	G	T32316462G	BRCA2	NM_000059.4(BRCA2):c.2T>G:p.Met1Arg	coding	Pathogenic
13	32316463	G	A	G32316463A	BRCA2	NM_000059.4(BRCA2):c.3G>A:p.Met1Ile	coding	Pathogenic
13	32316463	G	T	G32316463T	BRCA2	NM_000059.4(BRCA2):c.3G>T:p.Met1Ile	coding	Pathogenic
13	32316470	G	T	G32316470T	BRCA2	NM_000059.3(BRCA2):c.10G>T:p.Gly4Ter	coding	Pathogenic
13	32316497	G	T	G32316497T	BRCA2	NM_000059.3(BRCA2):c.37G>T:p.Glu13Ter	coding	Pathogenic
13	32316513	G	A	G32316513A	BRCA2	NM_000059.3(BRCA2):c.53G>A:p.Arg18His	coding	Benign
13	32316527	G	T	G32316527T	BRCA2	NM_000059.3(BRCA2):c.67G>T:p.Asp23Tyr	coding	Pathogenic
13	32316528	G	A	G32316528A	BRCA2	NM_000059.4(BRCA2):c.67+1G>A	coding	Pathogenic
13	32316528	G	C	G32316528C	BRCA2	NM_000059.3(BRCA2):c.67+1G>C	coding	Pathogenic/Likely_pathogenic
13	32316528	G	T	G32316528T	BRCA2	NM_000059.3(BRCA2):c.67+1G>T	coding	Pathogenic
13	32316529	T	A	T32316529A	BRCA2	NM_000059.3(BRCA2):c.67+2T>A	noncoding	Pathogenic
13	32316529	T	C	T32316529C	BRCA2	NM_000059.3(BRCA2):c.67+2T>C	noncoding	Pathogenic
13	32316532	T	A	T32316532A	BRCA2	NM_000059.3(BRCA2):c.67+5T>A	noncoding	Benign
13	32316543	A	G	A32316543G	BRCA2	NM_000059.3(BRCA2):c.67+16A>G	noncoding	Benign/Likely_benign
13	32316585	A	C	A32316585C	BRCA2	NM_000059.3(BRCA2):c.67+58A>C	noncoding	Benign
13	32316589	T	G	T32316589G	BRCA2	NM_000059.3(BRCA2):c.67+62T>G	noncoding	Benign/Likely_benign
13	32316609	C	G	C32316609G	BRCA2	NM_000059.3(BRCA2):c.67+82C>G	noncoding	Benign
13	32316853	G	C	G32316853C	BRCA2	NM_000059.3(BRCA2):c.67+326G>C	noncoding	Benign
13	32317168	T	C	T32317168C	BRCA2	NM_000059.3(BRCA2):c.67+641T>C	noncoding	Benign
13	32317246	T	A	T32317246A	BRCA2	NM_000059.3(BRCA2):c.67+719T>A	noncoding	Benign
13	32317569	A	G	A32317569G	BRCA2	NM_000059.3(BRCA2):c.67+1042A>G	noncoding	Benign
13	32317629	T	C	T32317629C	BRCA2	NM_000059.3(BRCA2):c.67+1102T>C	noncoding	Benign
13	32317661	T	C	T32317661C	BRCA2	NM_000059.3(BRCA2):c.67+1134T>C	noncoding	Benign
13	32317793	C	T	C32317793T	BRCA2	NM_000059.3(BRCA2):c.67+1266C>T	noncoding	Benign
13	32318080	C	T	C32318080T	BRCA2	NM_000059.3(BRCA2):c.68-997C>T	noncoding	Benign
13	32318532	C	T	C32318532T	BRCA2	NM_000059.3(BRCA2):c.68-545C>T	noncoding	Benign
13	32318557	G	T	G32318557T	BRCA2	NM_000059.3(BRCA2):c.68-520G>T	noncoding	Benign
13	32318598	T	C	T32318598C	BRCA2	NM_000059.3(BRCA2):c.68-479T>C	noncoding	Benign
13	32318738	G	A	G32318738A	BRCA2	NM_000059.3(BRCA2):c.68-339G>A	noncoding	Benign
13	32318748	G	A	G32318748A	BRCA2	NM_000059.3(BRCA2):c.68-329G>A	noncoding	Benign
13	32319070	T	A	T32319070A	BRCA2	NM_000059.4(BRCA2):c.68-7T>A	noncoding	Benign
13	32319076	G	C	G32319076C	BRCA2	NM_000059.3(BRCA2):c.68-1G>C	noncoding	Pathogenic
13	32319080	T	A	T32319080A	BRCA2	NM_000059.3(BRCA2):c.71T>A:p.Leu24Ter	coding	Pathogenic
13	32319080	T	G	T32319080G	BRCA2	NM_000059.3(BRCA2):c.71T>G:p.Leu24Ter	coding	Pathogenic
13	32319082	G	T	G32319082T	BRCA2	NM_000059.3(BRCA2):c.73G>T:p.Gly25Ter	coding	Pathogenic
13	32319101	G	A	G32319101A	BRCA2	NM_000059.4(BRCA2):c.92G>A:p.Trp31Ter	coding	Pathogenic
13	32319102	G	A	G32319102A	BRCA2	NM_000059.4(BRCA2):c.93G>A:p.Trp31Ter	coding	Pathogenic
13	32319106	G	T	G32319106T	BRCA2	NM_000059.3(BRCA2):c.97G>T:p.Glu33Ter	coding	Pathogenic
13	32319109	G	T	G32319109T	BRCA2	NM_000059.4(BRCA2):c.100G>T:p.Glu34Ter	coding	Pathogenic
13	32319119	C	A	C32319119A	BRCA2	NM_000059.3(BRCA2):c.110C>A:p.Ser37Ter	coding	Pathogenic
13	32319119	C	G	C32319119G	BRCA2	NM_000059.3(BRCA2):c.110C>G:p.Ser37Ter	coding	Pathogenic
13	32319134	A	G	A32319134G	BRCA2	NM_000059.4(BRCA2):c.125A>G:p.Tyr42Cys	coding	Benign
13	32319135	T	A	T32319135A	BRCA2	NM_000059.3(BRCA2):c.126T>A:p.Tyr42Ter	coding	Pathogenic
13	32319137	A	G	A32319137G	BRCA2	NM_000059.4(BRCA2):c.128A>G:p.Asn43Ser	coding	Benign
13	32319142	G	T	G32319142T	BRCA2	NM_000059.3(BRCA2):c.133G>T:p.Glu45Ter	coding	Pathogenic
13	32319154	G	T	G32319154T	BRCA2	NM_000059.4(BRCA2):c.145G>T:p.Glu49Ter	coding	Pathogenic
13	32319176	A	C	A32319176C	BRCA2	NM_000059.3(BRCA2):c.167A>C:p.Asn56Thr	coding	Benign
13	32319180	C	A	C32319180A	BRCA2	NM_000059.3(BRCA2):c.171C>A:p.Tyr57Ter	coding	Pathogenic
13	32319180	C	G	C32319180G	BRCA2	NM_000059.3(BRCA2):c.171C>G:p.Tyr57Ter	coding	Pathogenic
13	32319181	G	T	G32319181T	BRCA2	NM_000059.3(BRCA2):c.172G>T:p.Glu58Ter	coding	Pathogenic
13	32319205	C	T	C32319205T	BRCA2	NM_000059.4(BRCA2):c.196C>T:p.Gln66Ter	coding	Pathogenic
13	32319207	A	G	A32319207G	BRCA2	NM_000059.3(BRCA2):c.198A>G:p.Gln66=	coding	Benign
13	32319226	C	T	C32319226T	BRCA2	NM_000059.3(BRCA2):c.217C>T:p.Gln73Ter	coding	Pathogenic
13	32319232	G	C	G32319232C	BRCA2	NM_000059.4(BRCA2):c.223G>C:p.Ala75Pro	coding	Benign
13	32319236	C	G	C32319236G	BRCA2	NM_000059.3(BRCA2):c.227C>G:p.Ser76Ter	coding	Pathogenic
13	32319240	T	G	T32319240G	BRCA2	NM_000059.4(BRCA2):c.231T>G:p.Thr77=	coding	Benign
13	32319253	A	T	A32319253T	BRCA2	NM_000059.4(BRCA2):c.244A>T:p.Lys82Ter	coding	Pathogenic
13	32319256	G	T	G32319256T	BRCA2	NM_000059.3(BRCA2):c.247G>T:p.Glu83Ter	coding	Pathogenic
13	32319259	C	T	C32319259T	BRCA2	NM_000059.4(BRCA2):c.250C>T:p.Gln84Ter	coding	Pathogenic
13	32319282	C	A	C32319282A	BRCA2	NM_000059.3(BRCA2):c.273C>A:p.Tyr91Ter	coding	Pathogenic
13	32319282	C	G	C32319282G	BRCA2	NM_000059.3(BRCA2):c.273C>G:p.Tyr91Ter	coding	Pathogenic
13	32319283	C	T	C32319283T	BRCA2	NM_000059.4(BRCA2):c.274C>T:p.Gln92Ter	coding	Pathogenic
13	32319298	G	T	G32319298T	BRCA2	NM_000059.4(BRCA2):c.289G>T:p.Glu97Ter	coding	Pathogenic
13	32319302	T	G	T32319302G	BRCA2	NM_000059.3(BRCA2):c.293T>G:p.Leu98Ter	coding	Pathogenic
13	32319307	A	T	A32319307T	BRCA2	NM_000059.3(BRCA2):c.298A>T:p.Lys100Ter	coding	Pathogenic
13	32319323	T	A	T32319323A	BRCA2	NM_000059.3(BRCA2):c.314T>A:p.Leu105Ter	coding	Pathogenic
13	32319323	T	G	T32319323G	BRCA2	NM_000059.3(BRCA2):c.314T>G:p.Leu105Ter	coding	Pathogenic
13	32319326	G	A	G32319326A	BRCA2	NM_000059.3(BRCA2):c.316+1G>A	coding	Pathogenic/Likely_pathogenic
13	32319326	G	C	G32319326C	BRCA2	NM_000059.3(BRCA2):c.316+1G>C	coding	Pathogenic
13	32319326	G	T	G32319326T	BRCA2	NM_000059.3(BRCA2):c.316+1G>T	coding	Pathogenic
13	32319327	T	C	T32319327C	BRCA2	NM_000059.3(BRCA2):c.316+2T>C	noncoding	Pathogenic
13	32319327	T	G	T32319327G	BRCA2	NM_000059.3(BRCA2):c.316+2T>G	noncoding	Pathogenic
13	32319330	G	A	G32319330A	BRCA2	NM_000059.4(BRCA2):c.316+5G>A	noncoding	Pathogenic
13	32319330	G	C	G32319330C	BRCA2	NM_000059.3(BRCA2):c.316+5G>C	noncoding	Pathogenic
13	32319337	A	G	A32319337G	BRCA2	NM_000059.3(BRCA2):c.316+12A>G	noncoding	Benign/Likely_benign
13	32319433	A	G	A32319433G	BRCA2	NM_000059.4(BRCA2):c.316+108A>G	noncoding	Benign
13	32319587	G	A	G32319587A	BRCA2	NM_000059.3(BRCA2):c.316+262G>A	noncoding	Benign
13	32319654	A	G	A32319654G	BRCA2	NM_000059.3(BRCA2):c.316+329A>G	noncoding	Benign
13	32319686	A	G	A32319686G	BRCA2	NM_000059.3(BRCA2):c.316+361A>G	noncoding	Benign
13	32319771	A	G	A32319771G	BRCA2	NM_000059.3(BRCA2):c.316+446A>G	noncoding	Benign
13	32320185	G	A	G32320185A	BRCA2	NM_000059.3(BRCA2):c.316+860G>A	noncoding	Benign
13	32320188	A	C	A32320188C	BRCA2	NM_000059.3(BRCA2):c.316+863A>C	noncoding	Benign
13	32320347	G	A	G32320347A	BRCA2	NM_000059.3(BRCA2):c.316+1022G>A	noncoding	Benign
13	32320601	G	A	G32320601A	BRCA2	NM_000059.3(BRCA2):c.316+1276G>A	noncoding	Benign
13	32320668	A	T	A32320668T	BRCA2	NM_000059.3(BRCA2):c.316+1343A>T	noncoding	Benign
13	32320728	T	C	T32320728C	BRCA2	NM_000059.3(BRCA2):c.316+1403T>C	noncoding	Benign
13	32320807	G	A	G32320807A	BRCA2	NM_000059.3(BRCA2):c.316+1482G>A	noncoding	Benign
13	32320840	C	T	C32320840T	BRCA2	NM_000059.3(BRCA2):c.316+1515C>T	noncoding	Benign
13	32323861	A	T	A32323861T	BRCA2	NM_000059.3(BRCA2):c.317-1215A>T	noncoding	Benign
13	32324101	G	A	G32324101A	BRCA2	NM_000059.3(BRCA2):c.317-975G>A	noncoding	Benign
13	32324497	G	A	G32324497A	BRCA2	NM_000059.3(BRCA2):c.317-579G>A	noncoding	Benign
13	32324693	A	G	A32324693G	BRCA2	NM_000059.3(BRCA2):c.317-383A>G	noncoding	Benign
13	32324727	A	G	A32324727G	BRCA2	NM_000059.3(BRCA2):c.317-349A>G	noncoding	Benign
13	32325064	G	A	G32325064A	BRCA2	NM_000059.3(BRCA2):c.317-12G>A	noncoding	Benign/Likely_benign
13	32325081	A	C	A32325081C	BRCA2	NM_000059.4(BRCA2):c.322A>C:p.Asn108His	coding	Benign
13	32325096	A	T	A32325096T	BRCA2	NM_000059.4(BRCA2):c.337A>T:p.Arg113Ter	coding	Pathogenic
13	32325155	T	A	T32325155A	BRCA2	NM_000059.3(BRCA2):c.396T>A:p.Cys132Ter	coding	Pathogenic
13	32325173	T	A	T32325173A	BRCA2	NM_000059.3(BRCA2):c.414T>A:p.Cys138Ter	coding	Pathogenic
13	32325185	G	A	G32325185A	BRCA2	NM_000059.3(BRCA2):c.425+1G>A	coding	Pathogenic/Likely_pathogenic
13	32325217	A	G	A32325217G	BRCA2	NM_000059.3(BRCA2):c.425+33A>G	noncoding	Benign/Likely_benign
13	32325251	A	C	A32325251C	BRCA2	NM_000059.3(BRCA2):c.425+67A>C	noncoding	Benign
13	32325307	C	T	C32325307T	BRCA2	NM_000059.3(BRCA2):c.425+123C>T	noncoding	Benign
13	32325331	G	T	G32325331T	BRCA2	NM_000059.3(BRCA2):c.425+147G>T	noncoding	Benign
13	32325418	G	A	G32325418A	BRCA2	NM_000059.3(BRCA2):c.425+234G>A	noncoding	Benign
13	32325430	G	C	G32325430C	BRCA2	NM_000059.3(BRCA2):c.425+246G>C	noncoding	Benign
13	32325469	C	T	C32325469T	BRCA2	NM_000059.3(BRCA2):c.425+285C>T	noncoding	Benign
13	32325687	C	T	C32325687T	BRCA2	NM_000059.3(BRCA2):c.426-414C>T	noncoding	Benign
13	32325696	A	G	A32325696G	BRCA2	NM_000059.3(BRCA2):c.426-405A>G	noncoding	Benign
13	32325701	C	T	C32325701T	BRCA2	NM_000059.3(BRCA2):c.426-400C>T	noncoding	Benign
13	32325710	T	G	T32325710G	BRCA2	NM_000059.3(BRCA2):c.426-391T>G	noncoding	Benign
13	32325741	C	T	C32325741T	BRCA2	NM_000059.3(BRCA2):c.426-360C>T	noncoding	Benign
13	32325750	T	C	T32325750C	BRCA2	NM_000059.3(BRCA2):c.426-351T>C	noncoding	Benign
13	32325762	G	A	G32325762A	BRCA2	NM_000059.3(BRCA2):c.426-339G>A	noncoding	Benign
13	32325765	T	C	T32325765C	BRCA2	NM_000059.3(BRCA2):c.426-336T>C	noncoding	Benign
13	32325840	T	A	T32325840A	BRCA2	NM_000059.3(BRCA2):c.426-261T>A	noncoding	Benign
13	32325849	A	G	A32325849G	BRCA2	NM_000059.4(BRCA2):c.426-252A>G	noncoding	Benign
13	32325869	C	T	C32325869T	BRCA2	NM_000059.3(BRCA2):c.426-232C>T	noncoding	Benign
13	32326012	T	C	T32326012C	BRCA2	NM_000059.3(BRCA2):c.426-89T>C	noncoding	Benign
13	32326064	T	A	T32326064A	BRCA2	NM_000059.3(BRCA2):c.426-37T>A	noncoding	Benign/Likely_benign
13	32326099	A	G	A32326099G	BRCA2	NM_000059.3(BRCA2):c.426-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	32326099	A	T	A32326099T	BRCA2	NM_000059.3(BRCA2):c.426-2A>T	noncoding	Pathogenic
13	32326114	C	T	C32326114T	BRCA2	NM_000059.3(BRCA2):c.439C>T:p.Gln147Ter	coding	Pathogenic
13	32326115	A	G	A32326115G	BRCA2	NM_000059.4(BRCA2):c.440A>G:p.Gln147Arg	coding	Benign
13	32326148	C	A	C32326148A	BRCA2	NM_000059.3(BRCA2):c.473C>A:p.Ser158Ter	coding	Pathogenic
13	32326148	C	G	C32326148G	BRCA2	NM_000059.3(BRCA2):c.473C>G:p.Ser158Ter	coding	Pathogenic
13	32326150	G	A	G32326150A	BRCA2	NM_000059.3(BRCA2):c.475G>A:p.Val159Met	coding	Pathogenic/Likely_pathogenic
13	32326151	G	A	G32326151A	BRCA2	NM_000059.4(BRCA2):c.475+1G>A	coding	Pathogenic
13	32326151	G	T	G32326151T	BRCA2	NM_000059.3(BRCA2):c.475+1G>T	coding	Pathogenic
13	32326153	A	T	A32326153T	BRCA2	NM_000059.3(BRCA2):c.475+3A>T	noncoding	Pathogenic
13	32326240	A	C	A32326240C	BRCA2	NM_000059.3(BRCA2):c.476-2A>C	noncoding	Pathogenic/Likely_pathogenic
13	32326240	A	G	A32326240G	BRCA2	NM_000059.3(BRCA2):c.476-2A>G	noncoding	Pathogenic
13	32326257	T	A	T32326257A	BRCA2	NM_000059.3(BRCA2):c.491T>A:p.Leu164Ter	coding	Pathogenic
13	32326268	C	A	C32326268A	BRCA2	NM_000059.3(BRCA2):c.502C>A:p.Pro168Thr	coding	Benign
13	32326283	G	A	G32326283A	BRCA2	NM_000059.3(BRCA2):c.516+1G>A	coding	Pathogenic
13	32326283	G	C	G32326283C	BRCA2	NM_000059.3(BRCA2):c.516+1G>C	coding	Pathogenic
13	32326283	G	T	G32326283T	BRCA2	NM_000059.3(BRCA2):c.516+1G>T	coding	Pathogenic
13	32326284	T	A	T32326284A	BRCA2	NM_000059.3(BRCA2):c.516+2T>A	noncoding	Pathogenic
13	32326284	T	C	T32326284C	BRCA2	NM_000059.3(BRCA2):c.516+2T>C	noncoding	Pathogenic
13	32326284	T	G	T32326284G	BRCA2	NM_000059.3(BRCA2):c.516+2T>G	noncoding	Pathogenic
13	32326296	C	T	C32326296T	BRCA2	NM_000059.3(BRCA2):c.516+14C>T	noncoding	Benign/Likely_benign
13	32326300	T	C	T32326300C	BRCA2	NM_000059.3(BRCA2):c.516+18T>C	noncoding	Benign
13	32326303	A	T	A32326303T	BRCA2	NM_000059.4(BRCA2):c.516+21A>T	noncoding	Benign
13	32326480	C	T	C32326480T	BRCA2	NM_000059.3(BRCA2):c.517-19C>T	noncoding	Benign
13	32326497	A	G	A32326497G	BRCA2	NM_000059.4(BRCA2):c.517-2A>G	noncoding	Pathogenic
13	32326498	G	A	G32326498A	BRCA2	NM_000059.4(BRCA2):c.517-1G>A	noncoding	Pathogenic
13	32326498	G	T	G32326498T	BRCA2	NM_000059.3(BRCA2):c.517-1G>T	noncoding	Pathogenic
13	32326505	C	T	C32326505T	BRCA2	NM_000059.3(BRCA2):c.523C>T:p.Gln175Ter	coding	Pathogenic
13	32326526	G	T	G32326526T	BRCA2	NM_000059.3(BRCA2):c.544G>T:p.Glu182Ter	coding	Pathogenic
13	32326563	G	A	G32326563A	BRCA2	NM_000059.3(BRCA2):c.581G>A:p.Trp194Ter	coding	Pathogenic
13	32326564	G	A	G32326564A	BRCA2	NM_000059.3(BRCA2):c.582G>A:p.Trp194Ter	coding	Pathogenic
13	32326566	C	G	C32326566G	BRCA2	NM_000059.3(BRCA2):c.584C>G:p.Ser195Ter	coding	Pathogenic
13	32326613	G	A	G32326613A	BRCA2	NM_000059.4(BRCA2):c.631G>A:p.Val211Ile	coding	Pathogenic
13	32326613	G	C	G32326613C	BRCA2	NM_000059.3(BRCA2):c.631G>C:p.Val211Leu	coding	Pathogenic/Likely_pathogenic
13	32326614	G	A	G32326614A	BRCA2	NM_000059.3(BRCA2):c.631+1G>A	coding	Pathogenic/Likely_pathogenic
13	32326614	G	C	G32326614C	BRCA2	NM_000059.3(BRCA2):c.631+1G>C	coding	Pathogenic
13	32326615	T	A	T32326615A	BRCA2	NM_000059.3(BRCA2):c.631+2T>A	noncoding	Pathogenic/Likely_pathogenic
13	32326615	T	G	T32326615G	BRCA2	NM_000059.4(BRCA2):c.631+2T>G	noncoding	Pathogenic
13	32326617	A	G	A32326617G	BRCA2	NM_000059.3(BRCA2):c.631+4A>G	noncoding	Pathogenic/Likely_pathogenic
13	32326638	C	T	C32326638T	BRCA2	NM_000059.3(BRCA2):c.631+25C>T	noncoding	Benign/Likely_benign
13	32326656	G	T	G32326656T	BRCA2	NM_000059.3(BRCA2):c.631+43G>T	noncoding	Benign/Likely_benign
13	32326796	T	A	T32326796A	BRCA2	NM_000059.3(BRCA2):c.631+183T>A	noncoding	Benign
13	32328244	C	T	C32328244T	BRCA2	NM_000059.3(BRCA2):c.632-1199C>T	noncoding	Benign
13	32328640	G	A	G32328640A	BRCA2	NM_000059.3(BRCA2):c.632-803G>A	noncoding	Benign
13	32328672	A	T	A32328672T	BRCA2	NM_000059.3(BRCA2):c.632-771A>T	noncoding	Benign
13	32328764	A	G	A32328764G	BRCA2	NM_000059.3(BRCA2):c.632-679A>G	noncoding	Benign
13	32329374	T	C	T32329374C	BRCA2	NM_000059.3(BRCA2):c.632-69T>C	noncoding	Benign
13	32329440	C	G	C32329440G	BRCA2	NM_000059.3(BRCA2):c.632-3C>G	noncoding	Pathogenic
13	32329441	A	C	A32329441C	BRCA2	NM_000059.3(BRCA2):c.632-2A>C	noncoding	Pathogenic/Likely_pathogenic
13	32329441	A	G	A32329441G	BRCA2	NM_000059.3(BRCA2):c.632-2A>G	noncoding	Pathogenic
13	32329442	G	A	G32329442A	BRCA2	NM_000059.3(BRCA2):c.632-1G>A	noncoding	Pathogenic
13	32329442	G	C	G32329442C	BRCA2	NM_000059.3(BRCA2):c.632-1G>C	noncoding	Pathogenic
13	32329454	G	T	G32329454T	BRCA2	NM_000059.3(BRCA2):c.643G>T:p.Glu215Ter	coding	Pathogenic
13	32329463	G	T	G32329463T	BRCA2	NM_000059.4(BRCA2):c.652G>T:p.Glu218Ter	coding	Pathogenic
13	32329548	C	G	C32329548G	BRCA2	NM_000059.4(BRCA2):c.681+56C>G	noncoding	Benign
13	32329548	C	T	C32329548T	BRCA2	NM_000059.4(BRCA2):c.681+56C>T	noncoding	Benign
13	32329687	T	G	T32329687G	BRCA2	NM_000059.3(BRCA2):c.681+195T>G	noncoding	Benign
13	32330889	A	C	A32330889C	BRCA2	NM_000059.3(BRCA2):c.682-30A>C	noncoding	Benign
13	32330906	A	G	A32330906G	BRCA2	NM_000059.3(BRCA2):c.682-13A>G	noncoding	Benign/Likely_benign
13	32330917	A	C	A32330917C	BRCA2	NM_000059.3(BRCA2):c.682-2A>C	noncoding	Pathogenic
13	32330917	A	G	A32330917G	BRCA2	NM_000059.3(BRCA2):c.682-2A>G	noncoding	Pathogenic
13	32330918	G	C	G32330918C	BRCA2	NM_000059.4(BRCA2):c.682-1G>C	noncoding	Pathogenic/Likely_pathogenic
13	32330918	G	T	G32330918T	BRCA2	NM_000059.3(BRCA2):c.682-1G>T	noncoding	Pathogenic
13	32330925	A	T	A32330925T	BRCA2	NM_000059.4(BRCA2):c.688A>T:p.Lys230Ter	coding	Pathogenic
13	32330949	G	T	G32330949T	BRCA2	NM_000059.3(BRCA2):c.712G>T:p.Glu238Ter	coding	Pathogenic
13	32330958	A	T	A32330958T	BRCA2	NM_000059.3(BRCA2):c.721A>T:p.Lys241Ter	coding	Pathogenic
13	32330970	A	T	A32330970T	BRCA2	NM_000059.3(BRCA2):c.733A>T:p.Arg245Ter	coding	Pathogenic
13	32331009	C	T	C32331009T	BRCA2	NM_000059.4(BRCA2):c.772C>T:p.Gln258Ter	coding	Pathogenic
13	32331012	A	T	A32331012T	BRCA2	NM_000059.3(BRCA2):c.775A>T:p.Arg259Ter	coding	Pathogenic
13	32331031	G	A	G32331031A	BRCA2	NM_000059.4(BRCA2):c.793+1G>A	coding	Pathogenic/Likely_pathogenic
13	32331031	G	T	G32331031T	BRCA2	NM_000059.3(BRCA2):c.793+1G>T	coding	Pathogenic/Likely_pathogenic
13	32331032	T	G	T32331032G	BRCA2	NM_000059.3(BRCA2):c.793+2T>G	noncoding	Pathogenic/Likely_pathogenic
13	32331431	G	T	G32331431T	BRCA2	NM_000059.3(BRCA2):c.793+401G>T	noncoding	Benign
13	32331778	T	C	T32331778C	BRCA2	NM_000059.3(BRCA2):c.794-494T>C	noncoding	Benign
13	32331861	A	G	A32331861G	BRCA2	NM_000059.3(BRCA2):c.794-411A>G	noncoding	Benign
13	32332100	G	C	G32332100C	BRCA2	NM_000059.3(BRCA2):c.794-172G>C	noncoding	Benign
13	32332261	T	C	T32332261C	BRCA2	NM_000059.4(BRCA2):c.794-11T>C	noncoding	Benign/Likely_benign
13	32332277	G	T	G32332277T	BRCA2	NM_000059.3(BRCA2):c.799G>T:p.Gly267Ter	coding	Pathogenic
13	32332287	C	G	C32332287G	BRCA2	NM_000059.3(BRCA2):c.809C>G:p.Ser270Ter	coding	Pathogenic
13	32332296	C	A	C32332296A	BRCA2	NM_000059.3(BRCA2):c.818C>A:p.Ser273Ter	coding	Pathogenic
13	32332296	C	G	C32332296G	BRCA2	NM_000059.3(BRCA2):c.818C>G:p.Ser273Ter	coding	Pathogenic
13	32332335	C	G	C32332335G	BRCA2	NM_000059.3(BRCA2):c.857C>G:p.Ser286Ter	coding	Pathogenic
13	32332343	A	C	A32332343C	BRCA2	NM_000059.4(BRCA2):c.865A>C:p.Asn289His	coding	Benign
13	32332358	G	T	G32332358T	BRCA2	NM_000059.3(BRCA2):c.880G>T:p.Glu294Ter	coding	Pathogenic
13	32332366	T	A	T32332366A	BRCA2	NM_000059.3(BRCA2):c.888T>A:p.Tyr296Ter	coding	Pathogenic
13	32332367	G	T	G32332367T	BRCA2	NM_000059.3(BRCA2):c.889G>T:p.Glu297Ter	coding	Pathogenic
13	32332388	G	T	G32332388T	BRCA2	NM_000059.4(BRCA2):c.910G>T:p.Glu304Ter	coding	Pathogenic
13	32332391	G	T	G32332391T	BRCA2	NM_000059.3(BRCA2):c.913G>T:p.Glu305Ter	coding	Pathogenic
13	32332404	C	A	C32332404A	BRCA2	NM_000059.3(BRCA2):c.926C>A:p.Ser309Ter	coding	Pathogenic
13	32332404	C	G	C32332404G	BRCA2	NM_000059.3(BRCA2):c.926C>G:p.Ser309Ter	coding	Pathogenic
13	32332418	A	T	A32332418T	BRCA2	NM_000059.4(BRCA2):c.940A>T:p.Lys314Ter	coding	Pathogenic
13	32332421	T	A	T32332421A	BRCA2	NM_000059.3(BRCA2):c.943T>A:p.Cys315Ser	coding	Benign/Likely_benign
13	32332430	A	T	A32332430T	BRCA2	NM_000059.3(BRCA2):c.952A>T:p.Lys318Ter	coding	Pathogenic
13	32332439	C	T	C32332439T	BRCA2	NM_000059.4(BRCA2):c.961C>T:p.Gln321Ter	coding	Pathogenic
13	32332456	C	A	C32332456A	BRCA2	NM_000059.4(BRCA2):c.978C>A:p.Ser326Arg	coding	Benign
13	32332457	A	T	A32332457T	BRCA2	NM_000059.3(BRCA2):c.979A>T:p.Lys327Ter	coding	Pathogenic
13	32332465	G	A	G32332465A	BRCA2	NM_000059.3(BRCA2):c.987G>A:p.Arg329=	coding	Benign
13	32332501	T	A	T32332501A	BRCA2	NM_000059.3(BRCA2):c.1023T>A:p.Cys341Ter	coding	Pathogenic
13	32332517	C	T	C32332517T	BRCA2	NM_000059.4(BRCA2):c.1039C>T:p.Gln347Ter	coding	Pathogenic
13	32332518	A	G	A32332518G	BRCA2	NM_000059.3(BRCA2):c.1040A>G:p.Gln347Arg	coding	Benign
13	32332526	G	T	G32332526T	BRCA2	NM_000059.4(BRCA2):c.1048G>T:p.Glu350Ter	coding	Pathogenic
13	32332529	A	T	A32332529T	BRCA2	NM_000059.4(BRCA2):c.1051A>T:p.Lys351Ter	coding	Pathogenic
13	32332536	C	A	C32332536A	BRCA2	NM_000059.3(BRCA2):c.1058C>A:p.Ser353Ter	coding	Pathogenic
13	32332536	C	G	C32332536G	BRCA2	NM_000059.3(BRCA2):c.1058C>G:p.Ser353Ter	coding	Pathogenic
13	32332575	T	A	T32332575A	BRCA2	NM_000059.4(BRCA2):c.1097T>A:p.Leu366Ter	coding	Pathogenic
13	32332575	T	G	T32332575G	BRCA2	NM_000059.3(BRCA2):c.1097T>G:p.Leu366Ter	coding	Pathogenic
13	32332581	C	A	C32332581A	BRCA2	NM_000059.3(BRCA2):c.1103C>A:p.Ser368Ter	coding	Pathogenic
13	32332581	C	G	C32332581G	BRCA2	NM_000059.3(BRCA2):c.1103C>G:p.Ser368Ter	coding	Pathogenic
13	32332592	A	C	A32332592C	BRCA2	NM_000059.4(BRCA2):c.1114A>C:p.Asn372His	coding	Benign
13	32332595	C	T	C32332595T	BRCA2	NM_000059.3(BRCA2):c.1117C>T:p.Gln373Ter	coding	Pathogenic
13	32332601	C	T	C32332601T	BRCA2	NM_000059.3(BRCA2):c.1123C>T:p.Pro375Ser	coding	Benign
13	32332629	C	T	C32332629T	BRCA2	NM_000059.4(BRCA2):c.1151C>T:p.Ser384Phe	coding	Benign
13	32332631	A	T	A32332631T	BRCA2	NM_000059.3(BRCA2):c.1153A>T:p.Lys385Ter	coding	Pathogenic
13	32332644	C	A	C32332644A	BRCA2	NM_000059.3(BRCA2):c.1166C>A:p.Pro389Gln	coding	Benign
13	32332657	T	A	T32332657A	BRCA2	NM_000059.3(BRCA2):c.1179T>A:p.Cys393Ter	coding	Pathogenic
13	32332658	G	T	G32332658T	BRCA2	NM_000059.3(BRCA2):c.1180G>T:p.Glu394Ter	coding	Pathogenic
13	32332659	A	C	A32332659C	BRCA2	NM_000059.4(BRCA2):c.1181A>C:p.Glu394Ala	coding	Benign
13	32332662	G	A	G32332662A	BRCA2	NM_000059.4(BRCA2):c.1184G>A:p.Trp395Ter	coding	Pathogenic
13	32332663	G	A	G32332663A	BRCA2	NM_000059.3(BRCA2):c.1185G>A:p.Trp395Ter	coding	Pathogenic
13	32332667	C	T	C32332667T	BRCA2	NM_000059.3(BRCA2):c.1189C>T:p.Gln397Ter	coding	Pathogenic
13	32332680	C	A	C32332680A	BRCA2	NM_000059.3(BRCA2):c.1202C>A:p.Ser401Ter	coding	Pathogenic/Likely_pathogenic
13	32332680	C	G	C32332680G	BRCA2	NM_000059.3(BRCA2):c.1202C>G:p.Ser401Ter	coding	Pathogenic
13	32332697	C	T	C32332697T	BRCA2	NM_000059.3(BRCA2):c.1219C>T:p.Gln407Ter	coding	Pathogenic
13	32332719	T	A	T32332719A	BRCA2	NM_000059.3(BRCA2):c.1241T>A:p.Leu414Ter	coding	Pathogenic
13	32332731	C	A	C32332731A	BRCA2	NM_000059.3(BRCA2):c.1253C>A:p.Ser418Ter	coding	Pathogenic
13	32332731	C	G	C32332731G	BRCA2	NM_000059.3(BRCA2):c.1253C>G:p.Ser418Ter	coding	Pathogenic
13	32332739	C	T	C32332739T	BRCA2	NM_000059.4(BRCA2):c.1261C>T:p.Gln421Ter	coding	Pathogenic
13	32332749	C	G	C32332749G	BRCA2	NM_000059.4(BRCA2):c.1271C>G:p.Ser424Ter	coding	Pathogenic
13	32332753	A	G	A32332753G	BRCA2	NM_000059.3(BRCA2):c.1275A>G:p.Glu425=	coding	Benign
13	32332764	T	G	T32332764G	BRCA2	NM_000059.3(BRCA2):c.1286T>G:p.Leu429Ter	coding	Pathogenic
13	32332803	C	A	C32332803A	BRCA2	NM_000059.3(BRCA2):c.1325C>A:p.Ser442Ter	coding	Pathogenic
13	32332803	C	G	C32332803G	BRCA2	NM_000059.3(BRCA2):c.1325C>G:p.Ser442Ter	coding	Pathogenic
13	32332805	G	T	G32332805T	BRCA2	NM_000059.3(BRCA2):c.1327G>T:p.Glu443Ter	coding	Pathogenic
13	32332815	T	A	T32332815A	BRCA2	NM_000059.3(BRCA2):c.1337T>A:p.Leu446Ter	coding	Pathogenic
13	32332832	C	A	C32332832A	BRCA2	NM_000059.4(BRCA2):c.1354C>A:p.Leu452Ile	coding	Benign
13	32332840	A	G	A32332840G	BRCA2	NM_000059.4(BRCA2):c.1362A>G:p.Lys454=	coding	Benign
13	32332842	C	G	C32332842G	BRCA2	NM_000059.4(BRCA2):c.1364C>G:p.Ser455Ter	coding	Pathogenic
13	32332843	A	G	A32332843G	BRCA2	NM_000059.4(BRCA2):c.1365A>G:p.Ser455=	coding	Benign
13	32332844	G	T	G32332844T	BRCA2	NM_000059.4(BRCA2):c.1366G>T:p.Glu456Ter	coding	Pathogenic
13	32332846	G	A	G32332846A	BRCA2	NM_000059.3(BRCA2):c.1368G>A:p.Glu456=	coding	Benign
13	32332854	T	G	T32332854G	BRCA2	NM_000059.4(BRCA2):c.1376T>G:p.Leu459Ter	coding	Pathogenic
13	32332859	G	T	G32332859T	BRCA2	NM_000059.4(BRCA2):c.1381G>T:p.Glu461Ter	coding	Pathogenic
13	32332862	G	T	G32332862T	BRCA2	NM_000059.3(BRCA2):c.1384G>T:p.Glu462Ter	coding	Pathogenic
13	32332863	A	G	A32332863G	BRCA2	NM_000059.4(BRCA2):c.1385A>G:p.Glu462Gly	coding	Benign
13	32332877	A	T	A32332877T	BRCA2	NM_000059.3(BRCA2):c.1399A>T:p.Lys467Ter	coding	Pathogenic
13	32332880	A	T	A32332880T	BRCA2	NM_000059.3(BRCA2):c.1402A>T:p.Arg468Ter	coding	Pathogenic
13	32332889	G	T	G32332889T	BRCA2	NM_000059.4(BRCA2):c.1411G>T:p.Glu471Ter	coding	Pathogenic
13	32332892	C	T	C32332892T	BRCA2	NM_000059.3(BRCA2):c.1414C>T:p.Gln472Ter	coding	Pathogenic
13	32332901	G	T	G32332901T	BRCA2	NM_000059.3(BRCA2):c.1423G>T:p.Glu475Ter	coding	Pathogenic
13	32332918	C	A	C32332918A	BRCA2	NM_000059.3(BRCA2):c.1440C>A:p.Cys480Ter	coding	Pathogenic
13	32332934	C	T	C32332934T	BRCA2	NM_000059.4(BRCA2):c.1456C>T:p.Gln486Ter	coding	Pathogenic
13	32332968	C	G	C32332968G	BRCA2	NM_000059.3(BRCA2):c.1490C>G:p.Ser497Ter	coding	Pathogenic
13	32332992	T	C	T32332992C	BRCA2	NM_000059.4(BRCA2):c.1514T>C:p.Ile505Thr	coding	Benign
13	32333006	G	T	G32333006T	BRCA2	NM_000059.3(BRCA2):c.1528G>T:p.Glu510Ter	coding	Pathogenic
13	32333010	C	A	C32333010A	BRCA2	NM_000059.3(BRCA2):c.1532C>A:p.Ser511Ter	coding	Pathogenic
13	32333016	A	G	A32333016G	BRCA2	NM_000059.4(BRCA2):c.1538A>G:p.Lys513Arg	coding	Benign
13	32333066	A	T	A32333066T	BRCA2	NM_000059.3(BRCA2):c.1588A>T:p.Lys530Ter	coding	Pathogenic
13	32333072	G	T	G32333072T	BRCA2	NM_000059.3(BRCA2):c.1594G>T:p.Glu532Ter	coding	Pathogenic
13	32333099	G	T	G32333099T	BRCA2	NM_000059.3(BRCA2):c.1621G>T:p.Glu541Ter	coding	Pathogenic
13	32333120	C	T	C32333120T	BRCA2	NM_000059.3(BRCA2):c.1642C>T:p.Gln548Ter	coding	Pathogenic
13	32333122	G	A	G32333122A	BRCA2	NM_000059.3(BRCA2):c.1644G>A:p.Gln548=	coding	Benign
13	32333136	T	G	T32333136G	BRCA2	NM_000059.4(BRCA2):c.1658T>G:p.Leu553Ter	coding	Pathogenic
13	32333140	T	G	T32333140G	BRCA2	NM_000059.4(BRCA2):c.1662T>G:p.Cys554Trp	coding	Benign
13	32333148	T	G	T32333148G	BRCA2	NM_000059.4(BRCA2):c.1670T>G:p.Leu557Ter	coding	Pathogenic
13	32333159	G	T	G32333159T	BRCA2	NM_000059.3(BRCA2):c.1681G>T:p.Gly561Ter	coding	Pathogenic
13	32333167	G	A	G32333167A	BRCA2	NM_000059.4(BRCA2):c.1689G>A:p.Trp563Ter	coding	Pathogenic
13	32333214	T	G	T32333214G	BRCA2	NM_000059.3(BRCA2):c.1736T>G:p.Leu579Ter	coding	Pathogenic
13	32333222	A	C	A32333222C	BRCA2	NM_000059.4(BRCA2):c.1744A>C:p.Thr582Pro	coding	Benign
13	32333226	T	A	T32333226A	BRCA2	NM_000059.3(BRCA2):c.1748T>A:p.Leu583Ter	coding	Pathogenic
13	32333231	A	T	A32333231T	BRCA2	NM_000059.3(BRCA2):c.1753A>T:p.Lys585Ter	coding	Pathogenic/Likely_pathogenic
13	32333234	A	T	A32333234T	BRCA2	NM_000059.3(BRCA2):c.1756A>T:p.Lys586Ter	coding	Pathogenic
13	32333264	G	C	G32333264C	BRCA2	NM_000059.4(BRCA2):c.1786G>C:p.Asp596His	coding	Benign
13	32333266	T	C	T32333266C	BRCA2	NM_000059.3(BRCA2):c.1788T>C:p.Asp596=	coding	Benign
13	32333267	G	T	G32333267T	BRCA2	NM_000059.3(BRCA2):c.1789G>T:p.Glu597Ter	coding	Pathogenic
13	32333270	A	G	A32333270G	BRCA2	NM_000059.4(BRCA2):c.1792A>G:p.Thr598Ala	coding	Benign
13	32333274	C	T	C32333274T	BRCA2	NM_000059.3(BRCA2):c.1796C>T:p.Ser599Phe	coding	Benign
13	32333276	T	C	T32333276C	BRCA2	NM_000059.4(BRCA2):c.1798T>C:p.Tyr600His	coding	Benign
13	32333278	T	A	T32333278A	BRCA2	NM_000059.4(BRCA2):c.1800T>A:p.Tyr600Ter	coding	Pathogenic
13	32333278	T	G	T32333278G	BRCA2	NM_000059.4(BRCA2):c.1800T>G:p.Tyr600Ter	coding	Pathogenic
13	32333282	G	A	G32333282A	BRCA2	NM_000059.4(BRCA2):c.1804G>A:p.Gly602Arg	coding	Benign
13	32333282	G	T	G32333282T	BRCA2	NM_000059.4(BRCA2):c.1804G>T:p.Gly602Ter	coding	Pathogenic
13	32333288	A	G	A32333288G	BRCA2	NM_000059.3(BRCA2):c.1810A>G:p.Lys604Glu	coding	Benign
13	32333297	A	T	A32333297T	BRCA2	NM_000059.4(BRCA2):c.1819A>T:p.Lys607Ter	coding	Pathogenic
13	32333303	C	T	C32333303T	BRCA2	NM_000059.3(BRCA2):c.1825C>T:p.Gln609Ter	coding	Pathogenic
13	32333310	C	A	C32333310A	BRCA2	NM_000059.4(BRCA2):c.1832C>A:p.Ser611Ter	coding	Pathogenic
13	32333310	C	G	C32333310G	BRCA2	NM_000059.4(BRCA2):c.1832C>G:p.Ser611Ter	coding	Pathogenic
13	32333328	C	A	C32333328A	BRCA2	NM_000059.3(BRCA2):c.1850C>A:p.Ser617Ter	coding	Pathogenic
13	32333328	C	G	C32333328G	BRCA2	NM_000059.3(BRCA2):c.1850C>G:p.Ser617Ter	coding	Pathogenic
13	32333333	C	T	C32333333T	BRCA2	NM_000059.3(BRCA2):c.1855C>T:p.Gln619Ter	coding	Pathogenic
13	32333343	C	T	C32333343T	BRCA2	NM_000059.3(BRCA2):c.1865C>T:p.Ala622Val	coding	Benign
13	32333367	C	T	C32333367T	BRCA2	NM_000059.3(BRCA2):c.1889C>T:p.Thr630Ile	coding	Benign
13	32333385	C	G	C32333385G	BRCA2	NM_000059.3(BRCA2):c.1907C>G:p.Ser636Ter	coding	Pathogenic
13	32333388	G	A	G32333388A	BRCA2	NM_000059.3(BRCA2):c.1909+1G>A	coding	Pathogenic/Likely_pathogenic
13	32333458	T	C	T32333458C	BRCA2	NM_000059.3(BRCA2):c.1909+71T>C	noncoding	Benign
13	32333630	C	T	C32333630T	BRCA2	NM_000059.3(BRCA2):c.1909+243C>T	noncoding	Benign
13	32334492	A	G	A32334492G	BRCA2	NM_000059.3(BRCA2):c.1909+1105A>G	noncoding	Benign
13	32335313	C	T	C32335313T	BRCA2	NM_000059.3(BRCA2):c.1910-952C>T	noncoding	Benign
13	32335478	G	C	G32335478C	BRCA2	NM_000059.3(BRCA2):c.1910-787G>C	noncoding	Benign
13	32336191	T	C	T32336191C	BRCA2	NM_000059.3(BRCA2):c.1910-74T>C	noncoding	Benign
13	32336214	G	T	G32336214T	BRCA2	NM_000059.3(BRCA2):c.1910-51G>T	noncoding	Benign
13	32336222	T	C	T32336222C	BRCA2	NM_000059.3(BRCA2):c.1910-43T>C	noncoding	Benign
13	32336264	G	T	G32336264T	BRCA2	NM_000059.3(BRCA2):c.1910-1G>T	noncoding	Pathogenic/Likely_pathogenic
13	32336266	T	C	T32336266C	BRCA2	NM_000059.3(BRCA2):c.1911T>C:p.Gly637=	coding	Benign
13	32336268	T	G	T32336268G	BRCA2	NM_000059.3(BRCA2):c.1913T>G:p.Leu638Ter	coding	Pathogenic
13	32336293	C	A	C32336293A	BRCA2	NM_000059.3(BRCA2):c.1938C>A:p.Ser646Arg	coding	Benign
13	32336293	C	T	C32336293T	BRCA2	NM_000059.4(BRCA2):c.1938C>T:p.Ser646=	coding	Benign
13	32336298	C	G	C32336298G	BRCA2	NM_000059.3(BRCA2):c.1943C>G:p.Ser648Ter	coding	Pathogenic
13	32336300	C	T	C32336300T	BRCA2	NM_000059.4(BRCA2):c.1945C>T:p.Gln649Ter	coding	Pathogenic
13	32336315	G	T	G32336315T	BRCA2	NM_000059.3(BRCA2):c.1960G>T:p.Glu654Ter	coding	Pathogenic
13	32336319	C	G	C32336319G	BRCA2	NM_000059.4(BRCA2):c.1964C>G:p.Pro655Arg	coding	Benign
13	32336325	T	A	T32336325A	BRCA2	NM_000059.3(BRCA2):c.1970T>A:p.Leu657Ter	coding	Pathogenic
13	32336375	G	T	G32336375T	BRCA2	NM_000059.4(BRCA2):c.2020G>T:p.Glu674Ter	coding	Pathogenic
13	32336419	T	G	T32336419G	BRCA2	NM_000059.3(BRCA2):c.2064T>G:p.Tyr688Ter	coding	Pathogenic
13	32336441	G	T	G32336441T	BRCA2	NM_000059.3(BRCA2):c.2086G>T:p.Glu696Ter	coding	Pathogenic
13	32336450	C	T	C32336450T	BRCA2	NM_000059.3(BRCA2):c.2095C>T:p.Gln699Ter	coding	Pathogenic
13	32336454	T	A	T32336454A	BRCA2	NM_000059.3(BRCA2):c.2099T>A:p.Leu700Ter	coding	Pathogenic
13	32336482	G	C	G32336482C	BRCA2	NM_000059.3(BRCA2):c.2127G>C:p.Leu709=	coding	Benign
13	32336484	C	G	C32336484G	BRCA2	NM_000059.3(BRCA2):c.2129C>G:p.Ser710Ter	coding	Pathogenic
13	32336488	C	A	C32336488A	BRCA2	NM_000059.3(BRCA2):c.2133C>A:p.Cys711Ter	coding	Pathogenic
13	32336492	C	T	C32336492T	BRCA2	NM_000059.3(BRCA2):c.2137C>T:p.Gln713Ter	coding	Pathogenic
13	32336493	A	T	A32336493T	BRCA2	NM_000059.3(BRCA2):c.2138A>T:p.Gln713Leu	coding	Benign/Likely_benign
13	32336500	A	G	A32336500G	BRCA2	NM_000059.3(BRCA2):c.2145A>G:p.Gly715=	coding	Benign
13	32336506	T	A	T32336506A	BRCA2	NM_000059.3(BRCA2):c.2151T>A:p.Cys717Ter	coding	Pathogenic
13	32336569	T	A	T32336569A	BRCA2	NM_000059.3(BRCA2):c.2214T>A:p.Cys738Ter	coding	Pathogenic
13	32336579	C	T	C32336579T	BRCA2	NM_000059.4(BRCA2):c.2224C>T:p.Gln742Ter	coding	Pathogenic
13	32336584	T	C	T32336584C	BRCA2	NM_000059.4(BRCA2):c.2229T>C:p.His743=	coding	Benign
13	32336586	C	A	C32336586A	BRCA2	NM_000059.3(BRCA2):c.2231C>A:p.Ser744Ter	coding	Pathogenic
13	32336586	C	G	C32336586G	BRCA2	NM_000059.3(BRCA2):c.2231C>G:p.Ser744Ter	coding	Pathogenic
13	32336594	G	T	G32336594T	BRCA2	NM_000059.3(BRCA2):c.2239G>T:p.Glu747Ter	coding	Pathogenic
13	32336599	C	G	C32336599G	BRCA2	NM_000059.3(BRCA2):c.2244C>G:p.Tyr748Ter	coding	Pathogenic
13	32336621	C	T	C32336621T	BRCA2	NM_000059.3(BRCA2):c.2266C>T:p.Gln756Ter	coding	Pathogenic
13	32336624	A	T	A32336624T	BRCA2	NM_000059.3(BRCA2):c.2269A>T:p.Lys757Ter	coding	Pathogenic
13	32336634	T	G	T32336634G	BRCA2	NM_000059.3(BRCA2):c.2279T>G:p.Leu760Ter	coding	Pathogenic
13	32336667	T	G	T32336667G	BRCA2	NM_000059.4(BRCA2):c.2312T>G:p.Leu771Ter	coding	Pathogenic
13	32336694	C	G	C32336694G	BRCA2	NM_000059.4(BRCA2):c.2339C>G:p.Ser780Ter	coding	Pathogenic
13	32336705	A	G	A32336705G	BRCA2	NM_000059.4(BRCA2):c.2350A>G:p.Met784Val	coding	Benign
13	32336723	G	T	G32336723T	BRCA2	NM_000059.4(BRCA2):c.2368G>T:p.Glu790Ter	coding	Pathogenic
13	32336727	C	A	C32336727A	BRCA2	NM_000059.3(BRCA2):c.2372C>A:p.Ser791Ter	coding	Pathogenic
13	32336731	C	A	C32336731A	BRCA2	NM_000059.3(BRCA2):c.2376C>A:p.Tyr792Ter	coding	Pathogenic
13	32336731	C	G	C32336731G	BRCA2	NM_000059.4(BRCA2):c.2376C>G:p.Tyr792Ter	coding	Pathogenic
13	32336739	C	G	C32336739G	BRCA2	NM_000059.4(BRCA2):c.2384C>G:p.Ser795Ter	coding	Pathogenic
13	32336764	T	G	T32336764G	BRCA2	NM_000059.4(BRCA2):c.2409T>G:p.Tyr803Ter	coding	Pathogenic
13	32336771	G	C	G32336771C	BRCA2	NM_000059.4(BRCA2):c.2416G>C:p.Asp806His	coding	Benign
13	32336781	T	G	T32336781G	BRCA2	NM_000059.4(BRCA2):c.2426T>G:p.Leu809Ter	coding	Pathogenic
13	32336810	C	T	C32336810T	BRCA2	NM_000059.3(BRCA2):c.2455C>T:p.Gln819Ter	coding	Pathogenic
13	32336821	T	A	T32336821A	BRCA2	NM_000059.4(BRCA2):c.2466T>A:p.Cys822Ter	coding	Pathogenic
13	32336826	T	G	T32336826G	BRCA2	NM_000059.3(BRCA2):c.2471T>G:p.Leu824Ter	coding	Pathogenic
13	32336849	G	T	G32336849T	BRCA2	NM_000059.3(BRCA2):c.2494G>T:p.Glu832Ter	coding	Pathogenic
13	32336867	A	T	A32336867T	BRCA2	NM_000059.3(BRCA2):c.2512A>T:p.Lys838Ter	coding	Pathogenic
13	32336872	C	A	C32336872A	BRCA2	NM_000059.3(BRCA2):c.2517C>A:p.Tyr839Ter	coding	Pathogenic
13	32336892	C	G	C32336892G	BRCA2	NM_000059.3(BRCA2):c.2537C>G:p.Ser846Ter	coding	Pathogenic
13	32336893	A	C	A32336893C	BRCA2	NM_000059.4(BRCA2):c.2538A>C:p.Ser846=	coding	Benign
13	32336894	A	T	A32336894T	BRCA2	NM_000059.3(BRCA2):c.2539A>T:p.Arg847Ter	coding	Pathogenic
13	32336903	C	T	C32336903T	BRCA2	NM_000059.3(BRCA2):c.2548C>T:p.Gln850Ter	coding	Pathogenic
13	32336905	A	G	A32336905G	BRCA2	NM_000059.4(BRCA2):c.2550A>G:p.Gln850=	coding	Benign/Likely_benign
13	32336936	C	T	C32336936T	BRCA2	NM_000059.3(BRCA2):c.2581C>T:p.Gln861Ter	coding	Pathogenic
13	32336945	C	T	C32336945T	BRCA2	NM_000059.3(BRCA2):c.2590C>T:p.Gln864Ter	coding	Pathogenic
13	32336948	G	T	G32336948T	BRCA2	NM_000059.3(BRCA2):c.2593G>T:p.Glu865Ter	coding	Pathogenic
13	32336951	G	T	G32336951T	BRCA2	NM_000059.3(BRCA2):c.2596G>T:p.Glu866Ter	coding	Pathogenic
13	32336961	C	G	C32336961G	BRCA2	NM_000059.3(BRCA2):c.2606C>G:p.Ser869Ter	coding	Pathogenic
13	32336967	C	A	C32336967A	BRCA2	NM_000059.3(BRCA2):c.2612C>A:p.Ser871Ter	coding	Pathogenic
13	32336967	C	G	C32336967G	BRCA2	NM_000059.3(BRCA2):c.2612C>G:p.Ser871Ter	coding	Pathogenic
13	32336996	G	T	G32336996T	BRCA2	NM_000059.3(BRCA2):c.2641G>T:p.Glu881Ter	coding	Pathogenic
13	32337006	C	A	C32337006A	BRCA2	NM_000059.3(BRCA2):c.2651C>A:p.Ser884Ter	coding	Pathogenic
13	32337006	C	G	C32337006G	BRCA2	NM_000059.3(BRCA2):c.2651C>G:p.Ser884Ter	coding	Pathogenic
13	32337032	C	T	C32337032T	BRCA2	NM_000059.3(BRCA2):c.2677C>T:p.Gln893Ter	coding	Pathogenic
13	32337035	G	A	G32337035A	BRCA2	NM_000059.3(BRCA2):c.2680G>A:p.Val894Ile	coding	Benign
13	32337044	G	T	G32337044T	BRCA2	NM_000059.3(BRCA2):c.2689G>T:p.Glu897Ter	coding	Pathogenic/Likely_pathogenic
13	32337053	A	G	A32337053G	BRCA2	NM_000059.3(BRCA2):c.2698A>G:p.Asn900Asp	coding	Benign
13	32337071	A	G	A32337071G	BRCA2	NM_000059.4(BRCA2):c.2716A>G:p.Thr906Ala	coding	Benign/Likely_benign
13	32337103	T	A	T32337103A	BRCA2	NM_000059.3(BRCA2):c.2748T>A:p.Cys916Ter	coding	Pathogenic
13	32337110	G	A	G32337110A	BRCA2	NM_000059.3(BRCA2):c.2755G>A:p.Glu919Lys	coding	Benign
13	32337141	T	C	T32337141C	BRCA2	NM_000059.3(BRCA2):c.2786T>C:p.Leu929Ser	coding	Benign
13	32337141	T	G	T32337141G	BRCA2	NM_000059.4(BRCA2):c.2786T>G:p.Leu929Ter	coding	Pathogenic
13	32337158	G	A	G32337158A	BRCA2	NM_000059.4(BRCA2):c.2803G>A:p.Asp935Asn	coding	Benign/Likely_benign
13	32337158	G	C	G32337158C	BRCA2	NM_000059.3(BRCA2):c.2803G>C:p.Asp935His	coding	Benign
13	32337173	C	T	C32337173T	BRCA2	NM_000059.3(BRCA2):c.2818C>T:p.Gln940Ter	coding	Pathogenic
13	32337185	A	T	A32337185T	BRCA2	NM_000059.4(BRCA2):c.2830A>T:p.Lys944Ter	coding	Pathogenic
13	32337188	A	T	A32337188T	BRCA2	NM_000059.4(BRCA2):c.2833A>T:p.Lys945Ter	coding	Pathogenic
13	32337202	T	A	T32337202A	BRCA2	NM_000059.3(BRCA2):c.2847T>A:p.Tyr949Ter	coding	Pathogenic
13	32337215	G	T	G32337215T	BRCA2	NM_000059.3(BRCA2):c.2860G>T:p.Glu954Ter	coding	Pathogenic
13	32337236	C	T	C32337236T	BRCA2	NM_000059.3(BRCA2):c.2881C>T:p.Gln961Ter	coding	Pathogenic
13	32337238	G	A	G32337238A	BRCA2	NM_000059.4(BRCA2):c.2883G>A:p.Gln961=	coding	Benign
13	32337260	C	T	C32337260T	BRCA2	NM_000059.3(BRCA2):c.2905C>T:p.Gln969Ter	coding	Pathogenic
13	32337267	T	G	T32337267G	BRCA2	NM_000059.3(BRCA2):c.2912T>G:p.Leu971Ter	coding	Pathogenic
13	32337273	C	A	C32337273A	BRCA2	NM_000059.3(BRCA2):c.2918C>A:p.Ser973Ter	coding	Pathogenic
13	32337274	G	A	G32337274A	BRCA2	NM_000059.4(BRCA2):c.2919G>A:p.Ser973=	coding	Benign
13	32337281	T	A	T32337281A	BRCA2	NM_000059.3(BRCA2):c.2926T>A:p.Ser976Thr	coding	Benign/Likely_benign
13	32337282	C	T	C32337282T	BRCA2	NM_000059.3(BRCA2):c.2927C>T:p.Ser976Phe	coding	Benign/Likely_benign
13	32337305	G	T	G32337305T	BRCA2	NM_000059.3(BRCA2):c.2950G>T:p.Glu984Ter	coding	Pathogenic
13	32337315	A	T	A32337315T	BRCA2	NM_000059.3(BRCA2):c.2960A>T:p.Asn987Ile	coding	Benign
13	32337326	A	G	A32337326G	BRCA2	NM_000059.4(BRCA2):c.2971A>G:p.Asn991Asp	coding	Benign
13	32337333	G	A	G32337333A	BRCA2	NM_000059.3(BRCA2):c.2978G>A:p.Trp993Ter	coding	Pathogenic
13	32337334	G	A	G32337334A	BRCA2	NM_000059.3(BRCA2):c.2979G>A:p.Trp993Ter	coding	Pathogenic
13	32337338	G	T	G32337338T	BRCA2	NM_000059.3(BRCA2):c.2983G>T:p.Gly995Ter	coding	Pathogenic
13	32337342	T	G	T32337342G	BRCA2	NM_000059.4(BRCA2):c.2987T>G:p.Leu996Arg	coding	Benign
13	32337345	T	A	T32337345A	BRCA2	NM_000059.3(BRCA2):c.2990T>A:p.Leu997Ter	coding	Pathogenic
13	32337345	T	G	T32337345G	BRCA2	NM_000059.3(BRCA2):c.2990T>G:p.Leu997Ter	coding	Pathogenic
13	32337357	C	G	C32337357G	BRCA2	NM_000059.3(BRCA2):c.3002C>G:p.Ser1001Ter	coding	Pathogenic
13	32337371	G	T	G32337371T	BRCA2	NM_000059.3(BRCA2):c.3016G>T:p.Gly1006Ter	coding	Pathogenic
13	32337398	A	T	A32337398T	BRCA2	NM_000059.3(BRCA2):c.3043A>T:p.Lys1015Ter	coding	Pathogenic
13	32337401	G	T	G32337401T	BRCA2	NM_000059.3(BRCA2):c.3046G>T:p.Glu1016Ter	coding	Pathogenic
13	32337410	C	G	C32337410G	BRCA2	NM_000059.4(BRCA2):c.3055C>G:p.Leu1019Val	coding	Benign
13	32337428	A	T	A32337428T	BRCA2	NM_000059.3(BRCA2):c.3073A>T:p.Lys1025Ter	coding	Pathogenic
13	32337431	A	T	A32337431T	BRCA2	NM_000059.4(BRCA2):c.3076A>T:p.Lys1026Ter	coding	Pathogenic
13	32337449	A	T	A32337449T	BRCA2	NM_000059.3(BRCA2):c.3094A>T:p.Lys1032Ter	coding	Pathogenic
13	32337458	G	T	G32337458T	BRCA2	NM_000059.4(BRCA2):c.3103G>T:p.Glu1035Ter	coding	Pathogenic
13	32337461	G	T	G32337461T	BRCA2	NM_000059.3(BRCA2):c.3106G>T:p.Glu1036Ter	coding	Pathogenic
13	32337464	C	T	C32337464T	BRCA2	NM_000059.4(BRCA2):c.3109C>T:p.Gln1037Ter	coding	Pathogenic
13	32337511	A	C	A32337511C	BRCA2	NM_000059.3(BRCA2):c.3156A>C:p.Ala1052=	coding	Benign
13	32337513	T	G	T32337513G	BRCA2	NM_000059.4(BRCA2):c.3158T>G:p.Leu1053Ter	coding	Pathogenic
13	32337521	C	T	C32337521T	BRCA2	NM_000059.4(BRCA2):c.3166C>T:p.Gln1056Ter	coding	Pathogenic
13	32337527	A	T	A32337527T	BRCA2	NM_000059.4(BRCA2):c.3172A>T:p.Lys1058Ter	coding	Pathogenic
13	32337542	C	T	C32337542T	BRCA2	NM_000059.4(BRCA2):c.3187C>T:p.Gln1063Ter	coding	Pathogenic
13	32337546	C	A	C32337546A	BRCA2	NM_000059.3(BRCA2):c.3191C>A:p.Ser1064Ter	coding	Pathogenic
13	32337546	C	G	C32337546G	BRCA2	NM_000059.3(BRCA2):c.3191C>G:p.Ser1064Ter	coding	Pathogenic
13	32337570	T	G	T32337570G	BRCA2	NM_000059.4(BRCA2):c.3215T>G:p.Leu1072Ter	coding	Pathogenic
13	32337572	C	T	C32337572T	BRCA2	NM_000059.3(BRCA2):c.3217C>T:p.Gln1073Ter	coding	Pathogenic
13	32337599	A	T	A32337599T	BRCA2	NM_000059.3(BRCA2):c.3244A>T:p.Lys1082Ter	coding	Pathogenic
13	32337619	T	C	T32337619C	BRCA2	NM_000059.4(BRCA2):c.3264T>C:p.Pro1088=	coding	Benign
13	32337620	C	T	C32337620T	BRCA2	NM_000059.3(BRCA2):c.3265C>T:p.Gln1089Ter	coding	Pathogenic
13	32337627	T	A	T32337627A	BRCA2	NM_000059.3(BRCA2):c.3272T>A:p.Leu1091Ter	coding	Pathogenic
13	32337635	A	T	A32337635T	BRCA2	NM_000059.3(BRCA2):c.3280A>T:p.Lys1094Ter	coding	Pathogenic
13	32337638	C	T	C32337638T	BRCA2	NM_000059.3(BRCA2):c.3283C>T:p.Gln1095Ter	coding	Pathogenic
13	32337651	C	A	C32337651A	BRCA2	NM_000059.3(BRCA2):c.3296C>A:p.Ser1099Ter	coding	Pathogenic
13	32337651	C	G	C32337651G	BRCA2	NM_000059.3(BRCA2):c.3296C>G:p.Ser1099Ter	coding	Pathogenic
13	32337659	A	T	A32337659T	BRCA2	NM_000059.3(BRCA2):c.3304A>T:p.Asn1102Tyr	coding	Benign
13	32337663	T	G	T32337663G	BRCA2	NM_000059.3(BRCA2):c.3308T>G:p.Leu1103Ter	coding	Pathogenic
13	32337674	C	T	C32337674T	BRCA2	NM_000059.3(BRCA2):c.3319C>T:p.Gln1107Ter	coding	Pathogenic
13	32337677	A	T	A32337677T	BRCA2	NM_000059.3(BRCA2):c.3322A>T:p.Lys1108Ter	coding	Pathogenic
13	32337683	G	T	G32337683T	BRCA2	NM_000059.3(BRCA2):c.3328G>T:p.Glu1110Ter	coding	Pathogenic
13	32337717	C	A	C32337717A	BRCA2	NM_000059.3(BRCA2):c.3362C>A:p.Ser1121Ter	coding	Pathogenic
13	32337717	C	G	C32337717G	BRCA2	NM_000059.3(BRCA2):c.3362C>G:p.Ser1121Ter	coding	Pathogenic
13	32337731	G	T	G32337731T	BRCA2	NM_000059.3(BRCA2):c.3376G>T:p.Glu1126Ter	coding	Pathogenic
13	32337740	C	T	C32337740T	BRCA2	NM_000059.3(BRCA2):c.3385C>T:p.Gln1129Ter	coding	Pathogenic/Likely_pathogenic
13	32337751	A	C	A32337751C	BRCA2	NM_000059.3(BRCA2):c.3396A>C:p.Lys1132Asn	coding	Benign
13	32337751	A	G	A32337751G	BRCA2	NM_000059.4(BRCA2):c.3396A>G:p.Lys1132=	coding	Benign
13	32337760	C	A	C32337760A	BRCA2	NM_000059.3(BRCA2):c.3405C>A:p.Tyr1135Ter	coding	Pathogenic
13	32337767	C	T	C32337767T	BRCA2	NM_000059.3(BRCA2):c.3412C>T:p.Gln1138Ter	coding	Pathogenic
13	32337775	T	C	T32337775C	BRCA2	NM_000059.3(BRCA2):c.3420T>C:p.Ser1140=	coding	Benign
13	32337791	G	T	G32337791T	BRCA2	NM_000059.3(BRCA2):c.3436G>T:p.Glu1146Ter	coding	Pathogenic
13	32337797	C	T	C32337797T	BRCA2	NM_000059.3(BRCA2):c.3442C>T:p.Gln1148Ter	coding	Pathogenic
13	32337810	T	A	T32337810A	BRCA2	NM_000059.3(BRCA2):c.3455T>A:p.Leu1152Ter	coding	Pathogenic
13	32337810	T	G	T32337810G	BRCA2	NM_000059.3(BRCA2):c.3455T>G:p.Leu1152Ter	coding	Pathogenic
13	32337824	G	T	G32337824T	BRCA2	NM_000059.3(BRCA2):c.3469G>T:p.Glu1157Ter	coding	Pathogenic
13	32337832	C	A	C32337832A	BRCA2	NM_000059.3(BRCA2):c.3477C>A:p.Cys1159Ter	coding	Pathogenic
13	32337850	T	C	T32337850C	BRCA2	NM_000059.3(BRCA2):c.3495T>C:p.His1165=	coding	Benign
13	32337870	C	A	C32337870A	BRCA2	NM_000059.3(BRCA2):c.3515C>A:p.Ser1172Ter	coding	Pathogenic
13	32337870	C	T	C32337870T	BRCA2	NM_000059.4(BRCA2):c.3515C>T:p.Ser1172Leu	coding	Benign
13	32337871	G	A	G32337871A	BRCA2	NM_000059.4(BRCA2):c.3516G>A:p.Ser1172=	coding	Benign
13	32337878	C	T	C32337878T	BRCA2	NM_000059.3(BRCA2):c.3523C>T:p.Gln1175Ter	coding	Pathogenic
13	32337923	C	T	C32337923T	BRCA2	NM_000059.3(BRCA2):c.3568C>T:p.Arg1190Trp	coding	Benign
13	32337930	T	G	T32337930G	BRCA2	NM_000059.3(BRCA2):c.3575T>G:p.Phe1192Cys	coding	Benign
13	32337936	G	A	G32337936A	BRCA2	NM_000059.4(BRCA2):c.3581G>A:p.Gly1194Asp	coding	Benign
13	32337955	T	A	T32337955A	BRCA2	NM_000059.3(BRCA2):c.3600T>A:p.Cys1200Ter	coding	Pathogenic/Likely_pathogenic
13	32337986	G	T	G32337986T	BRCA2	NM_000059.3(BRCA2):c.3631G>T:p.Glu1211Ter	coding	Pathogenic
13	32337992	G	T	G32337992T	BRCA2	NM_000059.3(BRCA2):c.3637G>T:p.Glu1213Ter	coding	Pathogenic
13	32338037	A	G	A32338037G	BRCA2	NM_000059.3(BRCA2):c.3682A>G:p.Asn1228Asp	coding	Benign
13	32338058	C	T	C32338058T	BRCA2	NM_000059.3(BRCA2):c.3703C>T:p.Gln1235Ter	coding	Pathogenic/Likely_pathogenic
13	32338103	G	T	G32338103T	BRCA2	NM_000059.3(BRCA2):c.3748G>T:p.Glu1250Ter	coding	Pathogenic
13	32338134	T	A	T32338134A	BRCA2	NM_000059.3(BRCA2):c.3779T>A:p.Leu1260Ter	coding	Pathogenic
13	32338134	T	G	T32338134G	BRCA2	NM_000059.3(BRCA2):c.3779T>G:p.Leu1260Ter	coding	Pathogenic/Likely_pathogenic
13	32338140	C	A	C32338140A	BRCA2	NM_000059.4(BRCA2):c.3785C>A:p.Ser1262Ter	coding	Pathogenic
13	32338140	C	G	C32338140G	BRCA2	NM_000059.3(BRCA2):c.3785C>G:p.Ser1262Ter	coding	Pathogenic
13	32338148	T	A	T32338148A	BRCA2	NM_000059.3(BRCA2):c.3793T>A:p.Cys1265Ser	coding	Benign
13	32338162	T	C	T32338162C	BRCA2	NM_000059.4(BRCA2):c.3807T>C:p.Val1269=	coding	Benign
13	32338167	C	A	C32338167A	BRCA2	NM_000059.3(BRCA2):c.3812C>A:p.Ser1271Ter	coding	Pathogenic
13	32338167	C	G	C32338167G	BRCA2	NM_000059.3(BRCA2):c.3812C>G:p.Ser1271Ter	coding	Pathogenic
13	32338194	A	T	A32338194T	BRCA2	NM_000059.4(BRCA2):c.3839A>T:p.Asp1280Val	coding	Benign
13	32338224	G	A	G32338224A	BRCA2	NM_000059.4(BRCA2):c.3869G>A:p.Cys1290Tyr	coding	Benign
13	32338225	C	A	C32338225A	BRCA2	NM_000059.3(BRCA2):c.3870C>A:p.Cys1290Ter	coding	Pathogenic
13	32338226	C	T	C32338226T	BRCA2	NM_000059.3(BRCA2):c.3871C>T:p.Gln1291Ter	coding	Pathogenic
13	32338236	T	A	T32338236A	BRCA2	NM_000059.3(BRCA2):c.3881T>A:p.Leu1294Ter	coding	Pathogenic
13	32338236	T	G	T32338236G	BRCA2	NM_000059.4(BRCA2):c.3881T>G:p.Leu1294Ter	coding	Pathogenic
13	32338238	C	T	C32338238T	BRCA2	NM_000059.4(BRCA2):c.3883C>T:p.Gln1295Ter	coding	Pathogenic
13	32338271	G	A	G32338271A	BRCA2	NM_000059.3(BRCA2):c.3916G>A:p.Val1306Ile	coding	Benign
13	32338277	G	T	G32338277T	BRCA2	NM_000059.4(BRCA2):c.3922G>T:p.Glu1308Ter	coding	Pathogenic
13	32338294	C	A	C32338294A	BRCA2	NM_000059.3(BRCA2):c.3939C>A:p.Tyr1313Ter	coding	Pathogenic
13	32338294	C	G	C32338294G	BRCA2	NM_000059.3(BRCA2):c.3939C>G:p.Tyr1313Ter	coding	Pathogenic
13	32338313	G	T	G32338313T	BRCA2	NM_000059.3(BRCA2):c.3958G>T:p.Glu1320Ter	coding	Pathogenic
13	32338322	A	T	A32338322T	BRCA2	NM_000059.3(BRCA2):c.3967A>T:p.Lys1323Ter	coding	Pathogenic
13	32338356	T	A	T32338356A	BRCA2	NM_000059.3(BRCA2):c.4001T>A:p.Leu1334Ter	coding	Pathogenic
13	32338358	G	T	G32338358T	BRCA2	NM_000059.4(BRCA2):c.4003G>T:p.Glu1335Ter	coding	Pathogenic
13	32338377	C	A	C32338377A	BRCA2	NM_000059.4(BRCA2):c.4022C>A:p.Ser1341Ter	coding	Pathogenic
13	32338390	T	C	T32338390C	BRCA2	NM_000059.3(BRCA2):c.4035T>C:p.Asp1345=	coding	Benign
13	32338401	T	C	T32338401C	BRCA2	NM_000059.3(BRCA2):c.4046T>C:p.Ile1349Thr	coding	Benign
13	32338406	A	T	A32338406T	BRCA2	NM_000059.3(BRCA2):c.4051A>T:p.Lys1351Ter	coding	Pathogenic
13	32338416	C	T	C32338416T	BRCA2	NM_000059.3(BRCA2):c.4061C>T:p.Thr1354Met	coding	Benign
13	32338423	G	A	G32338423A	BRCA2	NM_000059.4(BRCA2):c.4068G>A:p.Leu1356=	coding	Benign
13	32338426	A	C	A32338426C	BRCA2	NM_000059.3(BRCA2):c.4071A>C:p.Leu1357=	coding	Benign
13	32338445	A	C	A32338445C	BRCA2	NM_000059.3(BRCA2):c.4090A>C:p.Ile1364Leu	coding	Benign
13	32338449	G	A	G32338449A	BRCA2	NM_000059.3(BRCA2):c.4094G>A:p.Cys1365Tyr	coding	Benign
13	32338450	T	A	T32338450A	BRCA2	NM_000059.3(BRCA2):c.4095T>A:p.Cys1365Ter	coding	Pathogenic
13	32338466	C	T	C32338466T	BRCA2	NM_000059.4(BRCA2):c.4111C>T:p.Gln1371Ter	coding	Pathogenic
13	32338490	C	T	C32338490T	BRCA2	NM_000059.4(BRCA2):c.4135C>T:p.Gln1379Ter	coding	Pathogenic
13	32338506	T	A	T32338506A	BRCA2	NM_000059.3(BRCA2):c.4151T>A:p.Leu1384Ter	coding	Pathogenic
13	32338509	C	A	C32338509A	BRCA2	NM_000059.3(BRCA2):c.4154C>A:p.Ser1385Ter	coding	Pathogenic
13	32338509	C	G	C32338509G	BRCA2	NM_000059.3(BRCA2):c.4154C>G:p.Ser1385Ter	coding	Pathogenic
13	32338542	A	G	A32338542G	BRCA2	NM_000059.4(BRCA2):c.4187A>G:p.Gln1396Arg	coding	Benign
13	32338552	T	A	T32338552A	BRCA2	NM_000059.4(BRCA2):c.4197T>A:p.Cys1399Ter	coding	Pathogenic
13	32338566	C	A	C32338566A	BRCA2	NM_000059.3(BRCA2):c.4211C>A:p.Ser1404Ter	coding	Pathogenic
13	32338566	C	G	C32338566G	BRCA2	NM_000059.3(BRCA2):c.4211C>G:p.Ser1404Ter	coding	Pathogenic
13	32338577	C	T	C32338577T	BRCA2	NM_000059.4(BRCA2):c.4222C>T:p.Gln1408Ter	coding	Pathogenic
13	32338581	T	A	T32338581A	BRCA2	NM_000059.3(BRCA2):c.4226T>A:p.Leu1409Ter	coding	Pathogenic
13	32338596	C	T	C32338596T	BRCA2	NM_000059.3(BRCA2):c.4241C>T:p.Thr1414Met	coding	Benign
13	32338598	G	T	G32338598T	BRCA2	NM_000059.3(BRCA2):c.4243G>T:p.Glu1415Ter	coding	Pathogenic
13	32338601	C	T	C32338601T	BRCA2	NM_000059.3(BRCA2):c.4246C>T:p.Gln1416Ter	coding	Pathogenic
13	32338613	G	T	G32338613T	BRCA2	NM_000059.4(BRCA2):c.4258G>T:p.Asp1420Tyr	coding	Benign
13	32338626	C	G	C32338626G	BRCA2	NM_000059.3(BRCA2):c.4271C>G:p.Ser1424Cys	coding	Benign
13	32338640	C	T	C32338640T	BRCA2	NM_000059.3(BRCA2):c.4285C>T:p.Gln1429Ter	coding	Pathogenic
13	32338654	G	A	G32338654A	BRCA2	NM_000059.3(BRCA2):c.4299G>A:p.Gly1433=	coding	Benign/Likely_benign
13	32338680	C	A	C32338680A	BRCA2	NM_000059.4(BRCA2):c.4325C>A:p.Ser1442Ter	coding	Pathogenic
13	32338680	C	G	C32338680G	BRCA2	NM_000059.3(BRCA2):c.4325C>G:p.Ser1442Ter	coding	Pathogenic
13	32338709	C	T	C32338709T	BRCA2	NM_000059.3(BRCA2):c.4354C>T:p.Gln1452Ter	coding	Pathogenic
13	32338718	G	T	G32338718T	BRCA2	NM_000059.3(BRCA2):c.4363G>T:p.Glu1455Ter	coding	Pathogenic
13	32338721	G	T	G32338721T	BRCA2	NM_000059.4(BRCA2):c.4366G>T:p.Glu1456Ter	coding	Pathogenic
13	32338752	T	A	T32338752A	BRCA2	NM_000059.3(BRCA2):c.4397T>A:p.Leu1466Ter	coding	Pathogenic
13	32338752	T	G	T32338752G	BRCA2	NM_000059.3(BRCA2):c.4397T>G:p.Leu1466Ter	coding	Pathogenic
13	32338766	A	T	A32338766T	BRCA2	NM_000059.3(BRCA2):c.4411A>T:p.Arg1471Ter	coding	Pathogenic
13	32338795	T	G	T32338795G	BRCA2	NM_000059.3(BRCA2):c.4440T>G:p.Tyr1480Ter	coding	Pathogenic
13	32338796	G	T	G32338796T	BRCA2	NM_000059.3(BRCA2):c.4441G>T:p.Glu1481Ter	coding	Pathogenic
13	32338799	G	T	G32338799T	BRCA2	NM_000059.3(BRCA2):c.4444G>T:p.Glu1482Ter	coding	Pathogenic
13	32338820	A	T	A32338820T	BRCA2	NM_000059.3(BRCA2):c.4465A>T:p.Lys1489Ter	coding	Pathogenic
13	32338880	C	T	C32338880T	BRCA2	NM_000059.3(BRCA2):c.4525C>T:p.Gln1509Ter	coding	Pathogenic
13	32338886	G	T	G32338886T	BRCA2	NM_000059.4(BRCA2):c.4531G>T:p.Glu1511Ter	coding	Pathogenic
13	32338907	G	T	G32338907T	BRCA2	NM_000059.3(BRCA2):c.4552G>T:p.Glu1518Ter	coding	Pathogenic
13	32338918	A	G	A32338918G	BRCA2	NM_000059.4(BRCA2):c.4563A>G:p.Leu1521=	coding	Benign
13	32338925	T	G	T32338925G	BRCA2	NM_000059.3(BRCA2):c.4570T>G:p.Phe1524Val	coding	Benign
13	32338933	A	G	A32338933G	BRCA2	NM_000059.3(BRCA2):c.4578A>G:p.Thr1526=	coding	Benign
13	32338940	G	A	G32338940A	BRCA2	NM_000059.4(BRCA2):c.4585G>A:p.Gly1529Arg	coding	Benign
13	32338943	A	T	A32338943T	BRCA2	NM_000059.4(BRCA2):c.4588A>T:p.Lys1530Ter	coding	Pathogenic
13	32338945	A	T	A32338945T	BRCA2	NM_000059.3(BRCA2):c.4590A>T:p.Lys1530Asn	coding	Pathogenic
13	32338946	A	T	A32338946T	BRCA2	NM_000059.3(BRCA2):c.4591A>T:p.Lys1531Ter	coding	Pathogenic/Likely_pathogenic
13	32338964	G	A	G32338964A	BRCA2	NM_000059.3(BRCA2):c.4609G>A:p.Glu1537Lys	coding	Benign
13	32339003	G	T	G32339003T	BRCA2	NM_000059.3(BRCA2):c.4648G>T:p.Glu1550Ter	coding	Pathogenic
13	32339006	C	T	C32339006T	BRCA2	NM_000059.3(BRCA2):c.4651C>T:p.Gln1551Ter	coding	Pathogenic
13	32339039	C	T	C32339039T	BRCA2	NM_000059.3(BRCA2):c.4684C>T:p.Gln1562Ter	coding	Pathogenic
13	32339044	G	A	G32339044A	BRCA2	NM_000059.3(BRCA2):c.4689G>A:p.Trp1563Ter	coding	Pathogenic
13	32339062	C	A	C32339062A	BRCA2	NM_000059.3(BRCA2):c.4707C>A:p.Tyr1569Ter	coding	Pathogenic
13	32339062	C	G	C32339062G	BRCA2	NM_000059.4(BRCA2):c.4707C>G:p.Tyr1569Ter	coding	Pathogenic
13	32339129	A	T	A32339129T	BRCA2	NM_000059.4(BRCA2):c.4774A>T:p.Lys1592Ter	coding	Pathogenic
13	32339134	A	C	A32339134C	BRCA2	NM_000059.3(BRCA2):c.4779A>C:p.Glu1593Asp	coding	Benign
13	32339138	C	T	C32339138T	BRCA2	NM_000059.3(BRCA2):c.4783C>T:p.Gln1595Ter	coding	Pathogenic
13	32339202	T	G	T32339202G	BRCA2	NM_000059.3(BRCA2):c.4847T>G:p.Leu1616Ter	coding	Pathogenic
13	32339214	T	G	T32339214G	BRCA2	NM_000059.4(BRCA2):c.4859T>G:p.Leu1620Ter	coding	Pathogenic
13	32339244	C	A	C32339244A	BRCA2	NM_000059.3(BRCA2):c.4889C>A:p.Ser1630Ter	coding	Pathogenic
13	32339244	C	G	C32339244G	BRCA2	NM_000059.4(BRCA2):c.4889C>G:p.Ser1630Ter	coding	Pathogenic
13	32339259	T	A	T32339259A	BRCA2	NM_000059.3(BRCA2):c.4904T>A:p.Leu1635Ter	coding	Pathogenic
13	32339267	A	T	A32339267T	BRCA2	NM_000059.3(BRCA2):c.4912A>T:p.Lys1638Ter	coding	Pathogenic
13	32339276	G	T	G32339276T	BRCA2	NM_000059.3(BRCA2):c.4921G>T:p.Glu1641Ter	coding	Pathogenic/Likely_pathogenic
13	32339288	A	T	A32339288T	BRCA2	NM_000059.3(BRCA2):c.4933A>T:p.Lys1645Ter	coding	Pathogenic
13	32339291	G	T	G32339291T	BRCA2	NM_000059.3(BRCA2):c.4936G>T:p.Glu1646Ter	coding	Pathogenic
13	32339317	T	A	T32339317A	BRCA2	NM_000059.3(BRCA2):c.4962T>A:p.Cys1654Ter	coding	Pathogenic
13	32339320	C	A	C32339320A	BRCA2	NM_000059.4(BRCA2):c.4965C>A:p.Tyr1655Ter	coding	Pathogenic
13	32339320	C	G	C32339320G	BRCA2	NM_000059.4(BRCA2):c.4965C>G:p.Tyr1655Ter	coding	Pathogenic
13	32339327	C	T	C32339327T	BRCA2	NM_000059.3(BRCA2):c.4972C>T:p.Gln1658Ter	coding	Pathogenic
13	32339338	T	G	T32339338G	BRCA2	NM_000059.3(BRCA2):c.4983T>G:p.Tyr1661Ter	coding	Pathogenic
13	32339340	C	G	C32339340G	BRCA2	NM_000059.3(BRCA2):c.4985C>G:p.Ser1662Ter	coding	Pathogenic
13	32339355	C	G	C32339355G	BRCA2	NM_000059.3(BRCA2):c.5000C>G:p.Ser1667Ter	coding	Pathogenic
13	32339361	T	G	T32339361G	BRCA2	NM_000059.3(BRCA2):c.5006T>G:p.Leu1669Ter	coding	Pathogenic
13	32339371	C	G	C32339371G	BRCA2	NM_000059.3(BRCA2):c.5016C>G:p.Tyr1672Ter	coding	Pathogenic
13	32339380	T	A	T32339380A	BRCA2	NM_000059.3(BRCA2):c.5025T>A:p.Cys1675Ter	coding	Pathogenic
13	32339402	C	T	C32339402T	BRCA2	NM_000059.3(BRCA2):c.5047C>T:p.Gln1683Ter	coding	Pathogenic
13	32339409	C	A	C32339409A	BRCA2	NM_000059.3(BRCA2):c.5054C>A:p.Ser1685Ter	coding	Pathogenic
13	32339409	C	G	C32339409G	BRCA2	NM_000059.3(BRCA2):c.5054C>G:p.Ser1685Ter	coding	Pathogenic
13	32339412	T	A	T32339412A	BRCA2	NM_000059.3(BRCA2):c.5057T>A:p.Leu1686Ter	coding	Pathogenic
13	32339425	A	C	A32339425C	BRCA2	NM_000059.4(BRCA2):c.5070A>C:p.Lys1690Asn	coding	Benign
13	32339426	A	T	A32339426T	BRCA2	NM_000059.3(BRCA2):c.5071A>T:p.Lys1691Ter	coding	Pathogenic
13	32339430	G	A	G32339430A	BRCA2	NM_000059.3(BRCA2):c.5075G>A:p.Trp1692Ter	coding	Pathogenic
13	32339435	A	T	A32339435T	BRCA2	NM_000059.3(BRCA2):c.5080A>T:p.Arg1694Ter	coding	Pathogenic
13	32339438	G	T	G32339438T	BRCA2	NM_000059.4(BRCA2):c.5083G>T:p.Glu1695Ter	coding	Pathogenic
13	32339442	G	T	G32339442T	BRCA2	NM_000059.4(BRCA2):c.5087G>T:p.Gly1696Val	coding	Pathogenic
13	32339450	G	A	G32339450A	BRCA2	NM_000059.3(BRCA2):c.5095G>A:p.Asp1699Asn	coding	Benign/Likely_benign
13	32339456	C	T	C32339456T	BRCA2	NM_000059.3(BRCA2):c.5101C>T:p.Gln1701Ter	coding	Pathogenic
13	32339462	G	T	G32339462T	BRCA2	NM_000059.4(BRCA2):c.5107G>T:p.Glu1703Ter	coding	Pathogenic
13	32339465	A	T	A32339465T	BRCA2	NM_000059.3(BRCA2):c.5110A>T:p.Arg1704Ter	coding	Pathogenic
13	32339485	T	G	T32339485G	BRCA2	NM_000059.3(BRCA2):c.5130T>G:p.Tyr1710Ter	coding	Pathogenic
13	32339489	G	T	G32339489T	BRCA2	NM_000059.3(BRCA2):c.5134G>T:p.Gly1712Ter	coding	Pathogenic
13	32339514	C	A	C32339514A	BRCA2	NM_000059.3(BRCA2):c.5159C>A:p.Ser1720Ter	coding	Pathogenic
13	32339514	C	G	C32339514G	BRCA2	NM_000059.3(BRCA2):c.5159C>G:p.Ser1720Ter	coding	Pathogenic
13	32339525	A	G	A32339525G	BRCA2	NM_000059.3(BRCA2):c.5170A>G:p.Ile1724Val	coding	Benign/Likely_benign
13	32339553	C	T	C32339553T	BRCA2	NM_000059.4(BRCA2):c.5198C>T:p.Ser1733Phe	coding	Benign
13	32339554	C	T	C32339554T	BRCA2	NM_000059.4(BRCA2):c.5199C>T:p.Ser1733=	coding	Benign
13	32339555	G	T	G32339555T	BRCA2	NM_000059.3(BRCA2):c.5200G>T:p.Glu1734Ter	coding	Pathogenic
13	32339561	C	T	C32339561T	BRCA2	NM_000059.3(BRCA2):c.5206C>T:p.Gln1736Ter	coding	Pathogenic
13	32339572	T	A	T32339572A	BRCA2	NM_000059.3(BRCA2):c.5217T>A:p.Tyr1739Ter	coding	Pathogenic
13	32339602	T	A	T32339602A	BRCA2	NM_000059.4(BRCA2):c.5247T>A:p.Tyr1749Ter	coding	Pathogenic
13	32339602	T	G	T32339602G	BRCA2	NM_000059.3(BRCA2):c.5247T>G:p.Tyr1749Ter	coding	Pathogenic/Likely_pathogenic
13	32339608	C	A	C32339608A	BRCA2	NM_000059.3(BRCA2):c.5253C>A:p.Tyr1751Ter	coding	Pathogenic
13	32339618	G	T	G32339618T	BRCA2	NM_000059.3(BRCA2):c.5263G>T:p.Glu1755Ter	coding	Pathogenic
13	32339626	T	A	T32339626A	BRCA2	NM_000059.3(BRCA2):c.5271T>A:p.Tyr1757Ter	coding	Pathogenic
13	32339634	C	A	C32339634A	BRCA2	NM_000059.4(BRCA2):c.5279C>A:p.Ser1760Ter	coding	Pathogenic
13	32339634	C	G	C32339634G	BRCA2	NM_000059.4(BRCA2):c.5279C>G:p.Ser1760Ter	coding	Pathogenic
13	32339636	G	T	G32339636T	BRCA2	NM_000059.3(BRCA2):c.5281G>T:p.Gly1761Ter	coding	Pathogenic
13	32339641	T	A	T32339641A	BRCA2	NM_000059.3(BRCA2):c.5286T>A:p.Tyr1762Ter	coding	Pathogenic
13	32339641	T	G	T32339641G	BRCA2	NM_000059.4(BRCA2):c.5286T>G:p.Tyr1762Ter	coding	Pathogenic
13	32339646	C	G	C32339646G	BRCA2	NM_000059.3(BRCA2):c.5291C>G:p.Ser1764Ter	coding	Pathogenic
13	32339648	A	T	A32339648T	BRCA2	NM_000059.3(BRCA2):c.5293A>T:p.Lys1765Ter	coding	Pathogenic
13	32339667	G	A	G32339667A	BRCA2	NM_000059.4(BRCA2):c.5312G>A:p.Gly1771Asp	coding	Benign
13	32339672	G	T	G32339672T	BRCA2	NM_000059.4(BRCA2):c.5317G>T:p.Glu1773Ter	coding	Pathogenic
13	32339699	C	T	C32339699T	BRCA2	NM_000059.4(BRCA2):c.5344C>T:p.Gln1782Ter	coding	Pathogenic
13	32339720	A	T	A32339720T	BRCA2	NM_000059.3(BRCA2):c.5365A>T:p.Lys1789Ter	coding	Pathogenic
13	32339755	C	G	C32339755G	BRCA2	NM_000059.3(BRCA2):c.5400C>G:p.Tyr1800Ter	coding	Pathogenic
13	32339759	C	T	C32339759T	BRCA2	NM_000059.3(BRCA2):c.5404C>T:p.Gln1802Ter	coding	Pathogenic
13	32339773	A	G	A32339773G	BRCA2	NM_000059.4(BRCA2):c.5418A>G:p.Glu1806=	coding	Benign
13	32339782	C	A	C32339782A	BRCA2	NM_000059.3(BRCA2):c.5427C>A:p.Cys1809Ter	coding	Pathogenic
13	32339789	G	T	G32339789T	BRCA2	NM_000059.3(BRCA2):c.5434G>T:p.Glu1812Ter	coding	Pathogenic
13	32339808	C	A	C32339808A	BRCA2	NM_000059.3(BRCA2):c.5453C>A:p.Ser1818Ter	coding	Pathogenic
13	32339810	C	T	C32339810T	BRCA2	NM_000059.3(BRCA2):c.5455C>T:p.Pro1819Ser	coding	Benign
13	32339867	G	T	G32339867T	BRCA2	NM_000059.4(BRCA2):c.5512G>T:p.Glu1838Ter	coding	Pathogenic
13	32339884	A	C	A32339884C	BRCA2	NM_000059.3(BRCA2):c.5529A>C:p.Ala1843=	coding	Benign
13	32339907	T	G	T32339907G	BRCA2	NM_000059.3(BRCA2):c.5552T>G:p.Ile1851Ser	coding	Benign
13	32339919	C	A	C32339919A	BRCA2	NM_000059.3(BRCA2):c.5564C>A:p.Ser1855Ter	coding	Pathogenic
13	32339924	G	T	G32339924T	BRCA2	NM_000059.4(BRCA2):c.5569G>T:p.Glu1857Ter	coding	Pathogenic
13	32339933	A	T	A32339933T	BRCA2	NM_000059.3(BRCA2):c.5578A>T:p.Lys1860Ter	coding	Pathogenic
13	32339969	A	T	A32339969T	BRCA2	NM_000059.4(BRCA2):c.5614A>T:p.Lys1872Ter	coding	Pathogenic
13	32339978	A	T	A32339978T	BRCA2	NM_000059.3(BRCA2):c.5623A>T:p.Lys1875Ter	coding	Pathogenic
13	32339981	G	T	G32339981T	BRCA2	NM_000059.3(BRCA2):c.5626G>T:p.Glu1876Ter	coding	Pathogenic
13	32339989	C	G	C32339989G	BRCA2	NM_000059.4(BRCA2):c.5634C>G:p.Asn1878Lys	coding	Benign
13	32339990	G	T	G32339990T	BRCA2	NM_000059.3(BRCA2):c.5635G>T:p.Glu1879Ter	coding	Pathogenic
13	32339995	T	G	T32339995G	BRCA2	NM_000059.4(BRCA2):c.5640T>G:p.Asn1880Lys	coding	Benign
13	32340000	C	A	C32340000A	BRCA2	NM_000059.4(BRCA2):c.5645C>A:p.Ser1882Ter	coding	Pathogenic
13	32340000	C	G	C32340000G	BRCA2	NM_000059.4(BRCA2):c.5645C>G:p.Ser1882Ter	coding	Pathogenic
13	32340010	C	A	C32340010A	BRCA2	NM_000059.4(BRCA2):c.5655C>A:p.Cys1885Ter	coding	Pathogenic
13	32340011	C	T	C32340011T	BRCA2	NM_000059.4(BRCA2):c.5656C>T:p.Gln1886Ter	coding	Pathogenic
13	32340031	T	G	T32340031G	BRCA2	NM_000059.3(BRCA2):c.5676T>G:p.Gly1892=	coding	Benign
13	32340037	C	A	C32340037A	BRCA2	NM_000059.4(BRCA2):c.5682C>A:p.Tyr1894Ter	coding	Pathogenic
13	32340037	C	G	C32340037G	BRCA2	NM_000059.4(BRCA2):c.5682C>G:p.Tyr1894Ter	coding	Pathogenic
13	32340054	C	A	C32340054A	BRCA2	NM_000059.3(BRCA2):c.5699C>A:p.Ser1900Ter	coding	Pathogenic
13	32340054	C	G	C32340054G	BRCA2	NM_000059.3(BRCA2):c.5699C>G:p.Ser1900Ter	coding	Pathogenic
13	32340059	G	A	G32340059A	BRCA2	NM_000059.3(BRCA2):c.5704G>A:p.Asp1902Asn	coding	Benign
13	32340065	C	G	C32340065G	BRCA2	NM_000059.3(BRCA2):c.5710C>G:p.Leu1904Val	coding	Benign
13	32340089	G	T	G32340089T	BRCA2	NM_000059.3(BRCA2):c.5734G>T:p.Glu1912Ter	coding	Pathogenic
13	32340094	T	A	T32340094A	BRCA2	NM_000059.3(BRCA2):c.5739T>A:p.Cys1913Ter	coding	Pathogenic
13	32340099	C	T	C32340099T	BRCA2	NM_000059.4(BRCA2):c.5744C>T:p.Thr1915Met	coding	Benign
13	32340105	C	A	C32340105A	BRCA2	NM_000059.3(BRCA2):c.5750C>A:p.Ser1917Ter	coding	Pathogenic
13	32340105	C	G	C32340105G	BRCA2	NM_000059.3(BRCA2):c.5750C>G:p.Ser1917Ter	coding	Pathogenic
13	32340107	C	T	C32340107T	BRCA2	NM_000059.4(BRCA2):c.5752C>T:p.His1918Tyr	coding	Benign
13	32340108	A	G	A32340108G	BRCA2	NM_000059.3(BRCA2):c.5753A>G:p.His1918Arg	coding	Benign
13	32340123	A	C	A32340123C	BRCA2	NM_000059.3(BRCA2):c.5768A>C:p.Asp1923Ala	coding	Benign
13	32340128	C	T	C32340128T	BRCA2	NM_000059.4(BRCA2):c.5773C>T:p.Gln1925Ter	coding	Pathogenic
13	32340134	G	T	G32340134T	BRCA2	NM_000059.3(BRCA2):c.5779G>T:p.Glu1927Ter	coding	Pathogenic
13	32340137	G	T	G32340137T	BRCA2	NM_000059.4(BRCA2):c.5782G>T:p.Glu1928Ter	coding	Pathogenic
13	32340140	A	G	A32340140G	BRCA2	NM_000059.4(BRCA2):c.5785A>G:p.Ile1929Val	coding	Benign
13	32340144	T	A	T32340144A	BRCA2	NM_000059.3(BRCA2):c.5789T>A:p.Leu1930Ter	coding	Pathogenic
13	32340144	T	G	T32340144G	BRCA2	NM_000059.3(BRCA2):c.5789T>G:p.Leu1930Ter	coding	Pathogenic
13	32340146	C	T	C32340146T	BRCA2	NM_000059.3(BRCA2):c.5791C>T:p.Gln1931Ter	coding	Pathogenic
13	32340155	C	T	C32340155T	BRCA2	NM_000059.4(BRCA2):c.5800C>T:p.Gln1934Ter	coding	Pathogenic
13	32340171	T	A	T32340171A	BRCA2	NM_000059.4(BRCA2):c.5816T>A:p.Leu1939Ter	coding	Pathogenic
13	32340210	T	A	T32340210A	BRCA2	NM_000059.4(BRCA2):c.5855T>A:p.Leu1952Ter	coding	Pathogenic
13	32340212	G	T	G32340212T	BRCA2	NM_000059.4(BRCA2):c.5857G>T:p.Glu1953Ter	coding	Pathogenic
13	32340219	C	A	C32340219A	BRCA2	NM_000059.4(BRCA2):c.5864C>A:p.Ser1955Ter	coding	Pathogenic
13	32340219	C	G	C32340219G	BRCA2	NM_000059.3(BRCA2):c.5864C>G:p.Ser1955Ter	coding	Pathogenic
13	32340234	G	A	G32340234A	BRCA2	NM_000059.3(BRCA2):c.5879G>A:p.Cys1960Tyr	coding	Benign/Likely_benign
13	32340264	C	A	C32340264A	BRCA2	NM_000059.4(BRCA2):c.5909C>A:p.Ser1970Ter	coding	Pathogenic
13	32340264	C	G	C32340264G	BRCA2	NM_000059.3(BRCA2):c.5909C>G:p.Ser1970Ter	coding	Pathogenic
13	32340280	T	A	T32340280A	BRCA2	NM_000059.3(BRCA2):c.5925T>A:p.Cys1975Ter	coding	Pathogenic
13	32340314	C	T	C32340314T	BRCA2	NM_000059.4(BRCA2):c.5959C>T:p.Gln1987Ter	coding	Pathogenic
13	32340321	C	A	C32340321A	BRCA2	NM_000059.3(BRCA2):c.5966C>A:p.Ser1989Ter	coding	Pathogenic
13	32340321	C	G	C32340321G	BRCA2	NM_000059.3(BRCA2):c.5966C>G:p.Ser1989Ter	coding	Pathogenic
13	32340330	C	G	C32340330G	BRCA2	NM_000059.3(BRCA2):c.5975C>G:p.Ser1992Ter	coding	Pathogenic
13	32340333	T	G	T32340333G	BRCA2	NM_000059.4(BRCA2):c.5978T>G:p.Leu1993Ter	coding	Pathogenic
13	32340335	C	T	C32340335T	BRCA2	NM_000059.3(BRCA2):c.5980C>T:p.Gln1994Ter	coding	Pathogenic
13	32340347	C	T	C32340347T	BRCA2	NM_000059.3(BRCA2):c.5992C>T:p.Gln1998Ter	coding	Pathogenic
13	32340377	A	T	A32340377T	BRCA2	NM_000059.3(BRCA2):c.6022A>T:p.Lys2008Ter	coding	Pathogenic
13	32340380	C	T	C32340380T	BRCA2	NM_000059.3(BRCA2):c.6025C>T:p.Gln2009Ter	coding	Pathogenic
13	32340392	A	T	A32340392T	BRCA2	NM_000059.4(BRCA2):c.6037A>T:p.Lys2013Ter	coding	Pathogenic
13	32340399	T	A	T32340399A	BRCA2	NM_000059.3(BRCA2):c.6044T>A:p.Leu2015Ter	coding	Pathogenic
13	32340404	A	T	A32340404T	BRCA2	NM_000059.3(BRCA2):c.6049A>T:p.Lys2017Ter	coding	Pathogenic
13	32340412	C	T	C32340412T	BRCA2	NM_000059.3(BRCA2):c.6057C>T:p.Asn2019=	coding	Benign
13	32340413	G	T	G32340413T	BRCA2	NM_000059.3(BRCA2):c.6058G>T:p.Glu2020Ter	coding	Pathogenic
13	32340420	C	G	C32340420G	BRCA2	NM_000059.3(BRCA2):c.6065C>G:p.Ser2022Ter	coding	Pathogenic
13	32340425	C	T	C32340425T	BRCA2	NM_000059.3(BRCA2):c.6070C>T:p.Gln2024Ter	coding	Pathogenic
13	32340437	G	T	G32340437T	BRCA2	NM_000059.3(BRCA2):c.6082G>T:p.Glu2028Ter	coding	Pathogenic
13	32340440	G	T	G32340440T	BRCA2	NM_000059.3(BRCA2):c.6085G>T:p.Glu2029Ter	coding	Pathogenic
13	32340455	C	T	C32340455T	BRCA2	NM_000059.4(BRCA2):c.6100C>T:p.Arg2034Cys	coding	Benign
13	32340479	C	T	C32340479T	BRCA2	NM_000059.3(BRCA2):c.6124C>T:p.Gln2042Ter	coding	Pathogenic
13	32340496	T	A	T32340496A	BRCA2	NM_000059.4(BRCA2):c.6141T>A:p.Tyr2047Ter	coding	Pathogenic
13	32340496	T	G	T32340496G	BRCA2	NM_000059.3(BRCA2):c.6141T>G:p.Tyr2047Ter	coding	Pathogenic
13	32340498	A	T	A32340498T	BRCA2	NM_000059.3(BRCA2):c.6143A>T:p.Asn2048Ile	coding	Benign
13	32340510	C	A	C32340510A	BRCA2	NM_000059.3(BRCA2):c.6155C>A:p.Ser2052Ter	coding	Pathogenic
13	32340510	C	G	C32340510G	BRCA2	NM_000059.3(BRCA2):c.6155C>G:p.Ser2052Ter	coding	Pathogenic
13	32340524	G	T	G32340524T	BRCA2	NM_000059.3(BRCA2):c.6169G>T:p.Gly2057Ter	coding	Pathogenic
13	32340561	T	G	T32340561G	BRCA2	NM_000059.4(BRCA2):c.6206T>G:p.Leu2069Ter	coding	Pathogenic
13	32340575	C	A	C32340575A	BRCA2	NM_000059.4(BRCA2):c.6220C>A:p.His2074Asn	coding	Benign
13	32340578	A	T	A32340578T	BRCA2	NM_000059.3(BRCA2):c.6223A>T:p.Lys2075Ter	coding	Pathogenic
13	32340584	A	T	A32340584T	BRCA2	NM_000059.4(BRCA2):c.6229A>T:p.Lys2077Ter	coding	Pathogenic
13	32340587	G	T	G32340587T	BRCA2	NM_000059.3(BRCA2):c.6232G>T:p.Gly2078Ter	coding	Pathogenic
13	32340594	T	G	T32340594G	BRCA2	NM_000059.3(BRCA2):c.6239T>G:p.Leu2080Ter	coding	Pathogenic
13	32340599	G	T	G32340599T	BRCA2	NM_000059.3(BRCA2):c.6244G>T:p.Glu2082Ter	coding	Pathogenic
13	32340609	T	G	T32340609G	BRCA2	NM_000059.3(BRCA2):c.6254T>G:p.Leu2085Ter	coding	Pathogenic
13	32340637	T	A	T32340637A	BRCA2	NM_000059.3(BRCA2):c.6282T>A:p.Tyr2094Ter	coding	Pathogenic
13	32340639	C	G	C32340639G	BRCA2	NM_000059.4(BRCA2):c.6284C>G:p.Ser2095Ter	coding	Pathogenic
13	32340645	C	T	C32340645T	BRCA2	NM_000059.4(BRCA2):c.6290C>T:p.Thr2097Met	coding	Benign
13	32340653	C	T	C32340653T	BRCA2	NM_000059.3(BRCA2):c.6298C>T:p.Gln2100Ter	coding	Pathogenic
13	32340663	C	A	C32340663A	BRCA2	NM_000059.3(BRCA2):c.6308C>A:p.Ser2103Ter	coding	Pathogenic
13	32340663	C	G	C32340663G	BRCA2	NM_000059.3(BRCA2):c.6308C>G:p.Ser2103Ter	coding	Pathogenic
13	32340677	C	T	C32340677T	BRCA2	NM_000059.4(BRCA2):c.6322C>T:p.Arg2108Cys	coding	Benign
13	32340678	G	A	G32340678A	BRCA2	NM_000059.4(BRCA2):c.6323G>A:p.Arg2108His	coding	Benign
13	32340693	A	G	A32340693G	BRCA2	NM_000059.3(BRCA2):c.6338A>G:p.Asn2113Ser	coding	Benign
13	32340702	A	G	A32340702G	BRCA2	NM_000059.4(BRCA2):c.6347A>G:p.His2116Arg	coding	Benign
13	32340706	T	A	T32340706A	BRCA2	NM_000059.3(BRCA2):c.6351T>A:p.Cys2117Ter	coding	Pathogenic
13	32340714	C	G	C32340714G	BRCA2	NM_000059.3(BRCA2):c.6359C>G:p.Ser2120Ter	coding	Pathogenic
13	32340737	A	T	A32340737T	BRCA2	NM_000059.3(BRCA2):c.6382A>T:p.Lys2128Ter	coding	Pathogenic
13	32340740	G	T	G32340740T	BRCA2	NM_000059.3(BRCA2):c.6385G>T:p.Glu2129Ter	coding	Pathogenic
13	32340750	T	G	T32340750G	BRCA2	NM_000059.3(BRCA2):c.6395T>G:p.Leu2132Ter	coding	Pathogenic
13	32340770	G	T	G32340770T	BRCA2	NM_000059.3(BRCA2):c.6415G>T:p.Glu2139Ter	coding	Pathogenic
13	32340783	C	A	C32340783A	BRCA2	NM_000059.3(BRCA2):c.6428C>A:p.Ser2143Ter	coding	Pathogenic
13	32340783	C	G	C32340783G	BRCA2	NM_000059.3(BRCA2):c.6428C>G:p.Ser2143Ter	coding	Pathogenic
13	32340810	C	A	C32340810A	BRCA2	NM_000059.3(BRCA2):c.6455C>A:p.Ser2152Tyr	coding	Benign
13	32340817	T	G	T32340817G	BRCA2	NM_000059.3(BRCA2):c.6462T>G:p.Tyr2154Ter	coding	Pathogenic
13	32340824	C	T	C32340824T	BRCA2	NM_000059.3(BRCA2):c.6469C>T:p.Gln2157Ter	coding	Pathogenic
13	32340830	C	T	C32340830T	BRCA2	NM_000059.3(BRCA2):c.6475C>T:p.Gln2159Ter	coding	Pathogenic
13	32340833	C	T	C32340833T	BRCA2	NM_000059.3(BRCA2):c.6478C>T:p.Gln2160Ter	coding	Pathogenic
13	32340839	A	T	A32340839T	BRCA2	NM_000059.3(BRCA2):c.6484A>T:p.Lys2162Ter	coding	Pathogenic
13	32340842	C	T	C32340842T	BRCA2	NM_000059.3(BRCA2):c.6487C>T:p.Gln2163Ter	coding	Pathogenic
13	32340845	C	T	C32340845T	BRCA2	NM_000059.3(BRCA2):c.6490C>T:p.Gln2164Ter	coding	Pathogenic
13	32340855	T	A	T32340855A	BRCA2	NM_000059.3(BRCA2):c.6500T>A:p.Leu2167Ter	coding	Pathogenic
13	32340855	T	G	T32340855G	BRCA2	NM_000059.3(BRCA2):c.6500T>G:p.Leu2167Ter	coding	Pathogenic
13	32340857	G	T	G32340857T	BRCA2	NM_000059.3(BRCA2):c.6502G>T:p.Gly2168Ter	coding	Pathogenic
13	32340868	G	C	G32340868C	BRCA2	NM_000059.4(BRCA2):c.6513G>C:p.Val2171=	coding	Benign
13	32340870	C	A	C32340870A	BRCA2	NM_000059.3(BRCA2):c.6515C>A:p.Ser2172Ter	coding	Pathogenic
13	32340896	G	T	G32340896T	BRCA2	NM_000059.3(BRCA2):c.6541G>T:p.Gly2181Ter	coding	Pathogenic
13	32340902	G	T	G32340902T	BRCA2	NM_000059.3(BRCA2):c.6547G>T:p.Glu2183Ter	coding	Pathogenic
13	32340905	C	T	C32340905T	BRCA2	NM_000059.3(BRCA2):c.6550C>T:p.Gln2184Ter	coding	Pathogenic
13	32340912	C	A	C32340912A	BRCA2	NM_000059.3(BRCA2):c.6557C>A:p.Ser2186Ter	coding	Pathogenic
13	32340912	C	G	C32340912G	BRCA2	NM_000059.3(BRCA2):c.6557C>G:p.Ser2186Ter	coding	Pathogenic
13	32340941	A	T	A32340941T	BRCA2	NM_000059.3(BRCA2):c.6586A>T:p.Lys2196Ter	coding	Pathogenic
13	32341000	C	G	C32341000G	BRCA2	NM_000059.3(BRCA2):c.6645C>G:p.Tyr2215Ter	coding	Pathogenic
13	32341004	A	T	A32341004T	BRCA2	NM_000059.4(BRCA2):c.6649A>T:p.Lys2217Ter	coding	Pathogenic
13	32341011	C	G	C32341011G	BRCA2	NM_000059.4(BRCA2):c.6656C>G:p.Ser2219Ter	coding	Pathogenic
13	32341031	G	T	G32341031T	BRCA2	NM_000059.3(BRCA2):c.6676G>T:p.Glu2226Ter	coding	Pathogenic
13	32341040	G	T	G32341040T	BRCA2	NM_000059.3(BRCA2):c.6685G>T:p.Glu2229Ter	coding	Pathogenic
13	32341070	G	T	G32341070T	BRCA2	NM_000059.3(BRCA2):c.6715G>T:p.Glu2239Ter	coding	Pathogenic
13	32341085	A	T	A32341085T	BRCA2	NM_000059.3(BRCA2):c.6730A>T:p.Lys2244Ter	coding	Pathogenic
13	32341103	A	G	A32341103G	BRCA2	NM_000059.4(BRCA2):c.6748A>G:p.Thr2250Ala	coding	Benign
13	32341123	T	A	T32341123A	BRCA2	NM_000059.3(BRCA2):c.6768T>A:p.Cys2256Ter	coding	Pathogenic
13	32341136	G	T	G32341136T	BRCA2	NM_000059.3(BRCA2):c.6781G>T:p.Glu2261Ter	coding	Pathogenic
13	32341155	C	A	C32341155A	BRCA2	NM_000059.3(BRCA2):c.6800C>A:p.Ser2267Ter	coding	Pathogenic
13	32341155	C	G	C32341155G	BRCA2	NM_000059.3(BRCA2):c.6800C>G:p.Ser2267Ter	coding	Pathogenic
13	32341207	A	G	A32341207G	BRCA2	NM_000059.3(BRCA2):c.6841+11A>G	noncoding	Benign/Likely_benign
13	32341387	C	A	C32341387A	BRCA2	NM_000059.3(BRCA2):c.6841+191C>A	noncoding	Benign
13	32341421	T	C	T32341421C	BRCA2	NM_000059.3(BRCA2):c.6841+225T>C	noncoding	Benign
13	32343207	T	C	T32343207C	BRCA2	NM_000059.3(BRCA2):c.6842-1351T>C	noncoding	Benign
13	32343208	T	C	T32343208C	BRCA2	NM_000059.3(BRCA2):c.6842-1350T>C	noncoding	Benign
13	32343436	C	G	C32343436G	BRCA2	NM_000059.3(BRCA2):c.6842-1122C>G	noncoding	Benign
13	32344085	A	G	A32344085G	BRCA2	NM_000059.3(BRCA2):c.6842-473A>G	noncoding	Benign
13	32344161	G	A	G32344161A	BRCA2	NM_000059.3(BRCA2):c.6842-397G>A	noncoding	Benign
13	32344184	G	A	G32344184A	BRCA2	NM_000059.3(BRCA2):c.6842-374G>A	noncoding	Benign
13	32344344	T	A	T32344344A	BRCA2	NM_000059.3(BRCA2):c.6842-214T>A	noncoding	Benign
13	32344538	T	A	T32344538A	BRCA2	NM_000059.3(BRCA2):c.6842-20T>A	noncoding	Benign
13	32344567	C	G	C32344567G	BRCA2	NM_000059.4(BRCA2):c.6851C>G:p.Ser2284Ter	coding	Pathogenic
13	32344569	A	G	A32344569G	BRCA2	NM_000059.4(BRCA2):c.6853A>G:p.Ile2285Val	coding	Benign
13	32344575	A	T	A32344575T	BRCA2	NM_000059.3(BRCA2):c.6859A>T:p.Arg2287Ter	coding	Pathogenic
13	32344617	G	T	G32344617T	BRCA2	NM_000059.3(BRCA2):c.6901G>T:p.Glu2301Ter	coding	Pathogenic
13	32344651	A	T	A32344651T	BRCA2	NM_000059.3(BRCA2):c.6935A>T:p.Asp2312Val	coding	Benign
13	32344830	G	A	G32344830A	BRCA2	NM_000059.3(BRCA2):c.6937+177G>A	noncoding	Benign
13	32344974	T	C	T32344974C	BRCA2	NM_000059.3(BRCA2):c.6937+321T>C	noncoding	Benign
13	32345093	C	T	C32345093T	BRCA2	NM_000059.3(BRCA2):c.6937+440C>T	noncoding	Benign
13	32345245	A	G	A32345245G	BRCA2	NM_000059.3(BRCA2):c.6937+592A>G	noncoding	Benign
13	32345247	T	G	T32345247G	BRCA2	NM_000059.3(BRCA2):c.6937+594T>G	noncoding	Benign
13	32345389	A	T	A32345389T	BRCA2	NM_000059.3(BRCA2):c.6937+736A>T	noncoding	Benign
13	32345500	T	G	T32345500G	BRCA2	NM_000059.3(BRCA2):c.6937+847T>G	noncoding	Benign
13	32345879	G	A	G32345879A	BRCA2	NM_000059.3(BRCA2):c.6938-948G>A	noncoding	Benign
13	32345984	C	T	C32345984T	BRCA2	NM_000059.3(BRCA2):c.6938-843C>T	noncoding	Benign
13	32346203	G	T	G32346203T	BRCA2	NM_000059.3(BRCA2):c.6938-624G>T	noncoding	Benign
13	32346312	G	C	G32346312C	BRCA2	NM_000059.3(BRCA2):c.6938-515G>C	noncoding	Benign
13	32346481	G	A	G32346481A	BRCA2	NM_000059.3(BRCA2):c.6938-346G>A	noncoding	Benign
13	32346514	C	T	C32346514T	BRCA2	NM_000059.3(BRCA2):c.6938-313C>T	noncoding	Benign
13	32346707	T	C	T32346707C	BRCA2	NM_000059.3(BRCA2):c.6938-120T>C	noncoding	Benign
13	32346825	A	C	A32346825C	BRCA2	NM_000059.3(BRCA2):c.6938-2A>C	noncoding	Pathogenic
13	32346825	A	G	A32346825G	BRCA2	NM_000059.3(BRCA2):c.6938-2A>G	noncoding	Pathogenic
13	32346826	G	A	G32346826A	BRCA2	NM_000059.3(BRCA2):c.6938-1G>A	noncoding	Pathogenic/Likely_pathogenic
13	32346841	C	T	C32346841T	BRCA2	NM_000059.4(BRCA2):c.6952C>T:p.Arg2318Ter	coding	Pathogenic
13	32346842	G	A	G32346842A	BRCA2	NM_000059.4(BRCA2):c.6953G>A:p.Arg2318Gln	coding	Benign
13	32346848	T	A	T32346848A	BRCA2	NM_000059.3(BRCA2):c.6959T>A:p.Leu2320Ter	coding	Pathogenic
13	32346871	G	T	G32346871T	BRCA2	NM_000059.3(BRCA2):c.6982G>T:p.Glu2328Ter	coding	Pathogenic
13	32346896	G	A	G32346896A	BRCA2	NM_000059.4(BRCA2):c.7007G>A:p.Arg2336His	coding	Pathogenic
13	32346896	G	C	G32346896C	BRCA2	NM_000059.4(BRCA2):c.7007G>C:p.Arg2336Pro	coding	Pathogenic
13	32346896	G	T	G32346896T	BRCA2	NM_000059.4(BRCA2):c.7007G>T:p.Arg2336Leu	coding	Pathogenic/Likely_pathogenic
13	32346897	G	A	G32346897A	BRCA2	NM_000059.3(BRCA2):c.7007+1G>A	coding	Pathogenic/Likely_pathogenic
13	32346897	G	C	G32346897C	BRCA2	NM_000059.3(BRCA2):c.7007+1G>C	coding	Pathogenic
13	32346897	G	T	G32346897T	BRCA2	NM_000059.3(BRCA2):c.7007+1G>T	coding	Pathogenic/Likely_pathogenic
13	32346898	T	A	T32346898A	BRCA2	NM_000059.3(BRCA2):c.7007+2T>A	noncoding	Pathogenic
13	32346898	T	G	T32346898G	BRCA2	NM_000059.3(BRCA2):c.7007+2T>G	noncoding	Pathogenic
13	32347053	C	T	C32347053T	BRCA2	NM_000059.3(BRCA2):c.7007+157C>T	noncoding	Benign
13	32347169	G	A	G32347169A	BRCA2	NM_000059.3(BRCA2):c.7007+273G>A	noncoding	Benign
13	32347225	T	C	T32347225C	BRCA2	NM_000059.3(BRCA2):c.7007+329T>C	noncoding	Benign
13	32347399	A	G	A32347399G	BRCA2	NM_000059.3(BRCA2):c.7007+503A>G	noncoding	Benign
13	32347584	G	A	G32347584A	BRCA2	NM_000059.3(BRCA2):c.7007+688G>A	noncoding	Benign
13	32347801	A	G	A32347801G	BRCA2	NM_000059.3(BRCA2):c.7007+905A>G	noncoding	Benign
13	32347807	A	G	A32347807G	BRCA2	NM_000059.3(BRCA2):c.7007+911A>G	noncoding	Benign
13	32347999	C	T	C32347999T	BRCA2	NM_000059.3(BRCA2):c.7007+1103C>T	noncoding	Benign
13	32348194	A	C	A32348194C	BRCA2	NM_000059.3(BRCA2):c.7007+1298A>C	noncoding	Benign
13	32348303	C	T	C32348303T	BRCA2	NM_000059.3(BRCA2):c.7007+1407C>T	noncoding	Benign
13	32348329	C	T	C32348329T	BRCA2	NM_000059.3(BRCA2):c.7007+1433C>T	noncoding	Benign
13	32348465	A	G	A32348465G	BRCA2	NM_000059.3(BRCA2):c.7007+1569A>G	noncoding	Benign
13	32352517	T	G	T32352517G	BRCA2	NM_000059.3(BRCA2):c.7008-2344T>G	noncoding	Benign
13	32352524	C	T	C32352524T	BRCA2	NM_000059.3(BRCA2):c.7008-2337C>T	noncoding	Benign
13	32352807	A	G	A32352807G	BRCA2	NM_000059.3(BRCA2):c.7008-2054A>G	noncoding	Benign
13	32352880	G	A	G32352880A	BRCA2	NM_000059.3(BRCA2):c.7008-1981G>A	noncoding	Benign
13	32353471	A	G	A32353471G	BRCA2	NM_000059.3(BRCA2):c.7008-1390A>G	noncoding	Benign
13	32353602	T	C	T32353602C	BRCA2	NM_000059.3(BRCA2):c.7008-1259T>C	noncoding	Benign
13	32353757	C	T	C32353757T	BRCA2	NM_000059.3(BRCA2):c.7008-1104C>T	noncoding	Benign
13	32353975	G	A	G32353975A	BRCA2	NM_000059.3(BRCA2):c.7008-886G>A	noncoding	Benign
13	32354065	A	G	A32354065G	BRCA2	NM_000059.3(BRCA2):c.7008-796A>G	noncoding	Benign
13	32354156	A	G	A32354156G	BRCA2	NM_000059.3(BRCA2):c.7008-705A>G	noncoding	Benign
13	32354180	T	C	T32354180C	BRCA2	NM_000059.3(BRCA2):c.7008-681T>C	noncoding	Benign
13	32354267	T	C	T32354267C	BRCA2	NM_000059.3(BRCA2):c.7008-594T>C	noncoding	Benign
13	32354271	G	A	G32354271A	BRCA2	NM_000059.3(BRCA2):c.7008-590G>A	noncoding	Benign
13	32354799	A	G	A32354799G	BRCA2	NM_000059.3(BRCA2):c.7008-62A>G	noncoding	Benign
13	32354859	A	G	A32354859G	BRCA2	NM_000059.4(BRCA2):c.7008-2A>G	noncoding	Pathogenic
13	32354859	A	T	A32354859T	BRCA2	NM_000059.3(BRCA2):c.7008-2A>T	noncoding	Pathogenic
13	32354860	G	A	G32354860A	BRCA2	NM_000059.4(BRCA2):c.7008-1G>A	noncoding	Pathogenic
13	32354860	G	T	G32354860T	BRCA2	NM_000059.3(BRCA2):c.7008-1G>T	noncoding	Pathogenic
13	32354870	G	C	G32354870C	BRCA2	NM_000059.4(BRCA2):c.7017G>C:p.Lys2339Asn	coding	Benign
13	32354877	C	T	C32354877T	BRCA2	NM_000059.4(BRCA2):c.7024C>T:p.Gln2342Ter	coding	Pathogenic
13	32354886	C	T	C32354886T	BRCA2	NM_000059.3(BRCA2):c.7033C>T:p.Gln2345Ter	coding	Pathogenic
13	32354905	C	G	C32354905G	BRCA2	NM_000059.3(BRCA2):c.7052C>G:p.Ala2351Gly	coding	Benign/Likely_benign
13	32354910	G	C	G32354910C	BRCA2	NM_000059.4(BRCA2):c.7057G>C:p.Gly2353Arg	coding	Benign
13	32354913	C	T	C32354913T	BRCA2	NM_000059.4(BRCA2):c.7060C>T:p.Gln2354Ter	coding	Pathogenic
13	32354916	G	T	G32354916T	BRCA2	NM_000059.3(BRCA2):c.7063G>T:p.Glu2355Ter	coding	Pathogenic
13	32354943	G	T	G32354943T	BRCA2	NM_000059.3(BRCA2):c.7090G>T:p.Glu2364Ter	coding	Pathogenic
13	32354968	C	A	C32354968A	BRCA2	NM_000059.3(BRCA2):c.7115C>A:p.Ser2372Ter	coding	Pathogenic
13	32354968	C	G	C32354968G	BRCA2	NM_000059.3(BRCA2):c.7115C>G:p.Ser2372Ter	coding	Pathogenic
13	32354977	T	G	T32354977G	BRCA2	NM_000059.3(BRCA2):c.7124T>G:p.Leu2375Ter	coding	Pathogenic
13	32354986	C	G	C32354986G	BRCA2	NM_000059.3(BRCA2):c.7133C>G:p.Ser2378Ter	coding	Pathogenic
13	32355003	C	A	C32355003A	BRCA2	NM_000059.4(BRCA2):c.7150C>A:p.Gln2384Lys	coding	Benign
13	32355033	A	T	A32355033T	BRCA2	NM_000059.4(BRCA2):c.7180A>T:p.Arg2394Ter	coding	Pathogenic
13	32355040	T	A	T32355040A	BRCA2	NM_000059.3(BRCA2):c.7187T>A:p.Leu2396Ter	coding	Pathogenic
13	32355041	G	T	G32355041T	BRCA2	NM_000059.3(BRCA2):c.7188G>T:p.Leu2396Phe	coding	Benign
13	32355063	A	T	A32355063T	BRCA2	NM_000059.3(BRCA2):c.7210A>T:p.Lys2404Ter	coding	Pathogenic
13	32355085	A	C	A32355085C	BRCA2	NM_000059.3(BRCA2):c.7232A>C:p.Lys2411Thr	coding	Benign
13	32355094	C	G	C32355094G	BRCA2	NM_000059.3(BRCA2):c.7241C>G:p.Ser2414Ter	coding	Pathogenic
13	32355095	A	G	A32355095G	BRCA2	NM_000059.4(BRCA2):c.7242A>G:p.Ser2414=	coding	Benign
13	32355111	G	T	G32355111T	BRCA2	NM_000059.3(BRCA2):c.7258G>T:p.Glu2420Ter	coding	Pathogenic
13	32355114	C	T	C32355114T	BRCA2	NM_000059.3(BRCA2):c.7261C>T:p.Gln2421Ter	coding	Pathogenic
13	32355119	T	A	T32355119A	BRCA2	NM_000059.3(BRCA2):c.7266T>A:p.Cys2422Ter	coding	Pathogenic
13	32355136	T	A	T32355136A	BRCA2	NM_000059.3(BRCA2):c.7283T>A:p.Leu2428Ter	coding	Pathogenic
13	32355156	C	T	C32355156T	BRCA2	NM_000059.3(BRCA2):c.7303C>T:p.Gln2435Ter	coding	Pathogenic
13	32355160	A	T	A32355160T	BRCA2	NM_000059.3(BRCA2):c.7307A>T:p.Asn2436Ile	coding	Benign
13	32355172	A	G	A32355172G	BRCA2	NM_000059.4(BRCA2):c.7319A>G:p.His2440Arg	coding	Benign
13	32355219	C	T	C32355219T	BRCA2	NM_000059.3(BRCA2):c.7366C>T:p.Gln2456Ter	coding	Pathogenic
13	32355228	A	T	A32355228T	BRCA2	NM_000059.3(BRCA2):c.7375A>T:p.Lys2459Ter	coding	Pathogenic
13	32355243	C	T	C32355243T	BRCA2	NM_000059.4(BRCA2):c.7390C>T:p.Gln2464Ter	coding	Pathogenic
13	32355250	T	C	T32355250C	BRCA2	NM_000059.4(BRCA2):c.7397T>C:p.Val2466Ala	coding	Benign
13	32355268	A	C	A32355268C	BRCA2	NM_000059.3(BRCA2):c.7415A>C:p.Lys2472Thr	coding	Benign
13	32355286	T	G	T32355286G	BRCA2	NM_000059.4(BRCA2):c.7433T>G:p.Leu2478Ter	coding	Pathogenic
13	32355289	G	C	G32355289C	BRCA2	NM_000059.3(BRCA2):c.7435+1G>C	coding	Pathogenic
13	32355341	C	T	C32355341T	BRCA2	NM_000059.3(BRCA2):c.7435+53C>T	noncoding	Benign
13	32356237	T	A	T32356237A	BRCA2	NM_000059.3(BRCA2):c.7436-191T>A	noncoding	Benign
13	32356297	C	T	C32356297T	BRCA2	NM_000059.3(BRCA2):c.7436-131C>T	noncoding	Benign
13	32356426	A	G	A32356426G	BRCA2	NM_000059.3(BRCA2):c.7436-2A>G	noncoding	Pathogenic
13	32356426	A	T	A32356426T	BRCA2	NM_000059.4(BRCA2):c.7436-2A>T	noncoding	Pathogenic
13	32356427	G	C	G32356427C	BRCA2	NM_000059.3(BRCA2):c.7436-1G>C	noncoding	Pathogenic
13	32356445	C	T	C32356445T	BRCA2	NM_000059.4(BRCA2):c.7453C>T:p.Gln2485Ter	coding	Pathogenic
13	32356461	T	C	T32356461C	BRCA2	NM_000059.4(BRCA2):c.7469T>C:p.Ile2490Thr	coding	Benign
13	32356463	C	T	C32356463T	BRCA2	NM_000059.4(BRCA2):c.7471C>T:p.Gln2491Ter	coding	Pathogenic
13	32356472	C	T	C32356472T	BRCA2	NM_000059.4(BRCA2):c.7480C>T:p.Arg2494Ter	coding	Pathogenic
13	32356487	C	T	C32356487T	BRCA2	NM_000059.3(BRCA2):c.7495C>T:p.Gln2499Ter	coding	Pathogenic
13	32356493	C	T	C32356493T	BRCA2	NM_000059.3(BRCA2):c.7501C>T:p.Gln2501Ter	coding	Pathogenic
13	32356497	G	A	G32356497A	BRCA2	NM_000059.3(BRCA2):c.7505G>A:p.Arg2502His	coding	Benign
13	32356508	C	T	C32356508T	BRCA2	NM_000059.4(BRCA2):c.7516C>T:p.Gln2506Ter	coding	Pathogenic
13	32356513	A	G	A32356513G	BRCA2	NM_000059.4(BRCA2):c.7521A>G:p.Pro2507=	coding	Benign
13	32356526	C	T	C32356526T	BRCA2	NM_000059.3(BRCA2):c.7534C>T:p.Leu2512Phe	coding	Benign
13	32356536	C	T	C32356536T	BRCA2	NM_000059.4(BRCA2):c.7544C>T:p.Thr2515Ile	coding	Benign
13	32356550	C	T	C32356550T	BRCA2	NM_000059.4(BRCA2):c.7558C>T:p.Arg2520Ter	coding	Pathogenic
13	32356562	A	T	A32356562T	BRCA2	NM_000059.3(BRCA2):c.7570A>T:p.Lys2524Ter	coding	Pathogenic
13	32356604	A	T	A32356604T	BRCA2	NM_000059.3(BRCA2):c.7612A>T:p.Lys2538Ter	coding	Pathogenic
13	32356607	C	T	C32356607T	BRCA2	NM_000059.3(BRCA2):c.7615C>T:p.Gln2539Ter	coding	Pathogenic
13	32356610	G	A	G32356610A	BRCA2	NM_000059.4(BRCA2):c.7617+1G>A	coding	Pathogenic
13	32356610	G	C	G32356610C	BRCA2	NM_000059.3(BRCA2):c.7617+1G>C	coding	Pathogenic
13	32356610	G	T	G32356610T	BRCA2	NM_000059.3(BRCA2):c.7617+1G>T	coding	Pathogenic/Likely_pathogenic
13	32356611	T	G	T32356611G	BRCA2	NM_000059.4(BRCA2):c.7617+2T>G	noncoding	Pathogenic
13	32356648	G	A	G32356648A	BRCA2	NM_000059.3(BRCA2):c.7617+39G>A	noncoding	Benign/Likely_benign
13	32356757	G	A	G32356757A	BRCA2	NM_000059.3(BRCA2):c.7617+148G>A	noncoding	Benign
13	32356799	G	A	G32356799A	BRCA2	NM_000059.3(BRCA2):c.7617+190G>A	noncoding	Benign
13	32357158	G	A	G32357158A	BRCA2	NM_000059.3(BRCA2):c.7617+549G>A	noncoding	Benign
13	32357492	G	A	G32357492A	BRCA2	NM_000059.3(BRCA2):c.7618-250G>A	noncoding	Benign
13	32357740	A	G	A32357740G	BRCA2	NM_000059.3(BRCA2):c.7618-2A>G	noncoding	Pathogenic
13	32357741	G	A	G32357741A	BRCA2	NM_000059.3(BRCA2):c.7618-1G>A	noncoding	Pathogenic
13	32357750	G	A	G32357750A	BRCA2	NM_000059.3(BRCA2):c.7626G>A:p.Thr2542=	coding	Benign
13	32357753	T	A	T32357753A	BRCA2	NM_000059.3(BRCA2):c.7629T>A:p.Tyr2543Ter	coding	Pathogenic
13	32357771	C	A	C32357771A	BRCA2	NM_000059.3(BRCA2):c.7647C>A:p.Cys2549Ter	coding	Pathogenic
13	32357805	C	T	C32357805T	BRCA2	NM_000059.4(BRCA2):c.7681C>T:p.Gln2561Ter	coding	Pathogenic
13	32357825	T	A	T32357825A	BRCA2	NM_000059.4(BRCA2):c.7701T>A:p.Tyr2567Ter	coding	Pathogenic
13	32357832	A	T	A32357832T	BRCA2	NM_000059.3(BRCA2):c.7708A>T:p.Lys2570Ter	coding	Pathogenic
13	32357842	T	G	T32357842G	BRCA2	NM_000059.3(BRCA2):c.7718T>G:p.Leu2573Ter	coding	Pathogenic
13	32357845	G	A	G32357845A	BRCA2	NM_000059.3(BRCA2):c.7721G>A:p.Trp2574Ter	coding	Pathogenic
13	32357846	G	A	G32357846A	BRCA2	NM_000059.3(BRCA2):c.7722G>A:p.Trp2574Ter	coding	Pathogenic
13	32357856	G	T	G32357856T	BRCA2	NM_000059.4(BRCA2):c.7732G>T:p.Gly2578Ter	coding	Pathogenic
13	32357862	C	T	C32357862T	BRCA2	NM_000059.4(BRCA2):c.7738C>T:p.Gln2580Ter	coding	Pathogenic
13	32357881	G	A	G32357881A	BRCA2	NM_000059.4(BRCA2):c.7757G>A:p.Trp2586Ter	coding	Pathogenic
13	32357882	G	A	G32357882A	BRCA2	NM_000059.4(BRCA2):c.7758G>A:p.Trp2586Ter	coding	Pathogenic
13	32357901	G	T	G32357901T	BRCA2	NM_000059.3(BRCA2):c.7777G>T:p.Gly2593Ter	coding	Pathogenic
13	32357916	G	T	G32357916T	BRCA2	NM_000059.4(BRCA2):c.7792G>T:p.Glu2598Ter	coding	Pathogenic
13	32357919	G	T	G32357919T	BRCA2	NM_000059.3(BRCA2):c.7795G>T:p.Glu2599Ter	coding	Pathogenic
13	32357929	G	C	G32357929C	BRCA2	NM_000059.3(BRCA2):c.7805G>C:p.Arg2602Thr	coding	Pathogenic
13	32357930	G	A	G32357930A	BRCA2	NM_000059.3(BRCA2):c.7805+1G>A	coding	Pathogenic
13	32357931	T	G	T32357931G	BRCA2	NM_000059.3(BRCA2):c.7805+2T>G	noncoding	Pathogenic
13	32357932	A	C	A32357932C	BRCA2	NM_000059.4(BRCA2):c.7805+3A>C	noncoding	Pathogenic
13	32357935	C	G	C32357935G	BRCA2	NM_000059.3(BRCA2):c.7805+6C>G	noncoding	Benign/Likely_benign
13	32358127	A	G	A32358127G	BRCA2	NM_000059.3(BRCA2):c.7805+198A>G	noncoding	Benign
13	32359302	A	G	A32359302G	BRCA2	NM_000059.3(BRCA2):c.7805+1373A>G	noncoding	Benign
13	32359497	A	G	A32359497G	BRCA2	NM_000059.3(BRCA2):c.7805+1568A>G	noncoding	Benign
13	32359570	T	C	T32359570C	BRCA2	NM_000059.3(BRCA2):c.7805+1641T>C	noncoding	Benign
13	32359789	A	G	A32359789G	BRCA2	NM_000059.3(BRCA2):c.7805+1860A>G	noncoding	Benign
13	32359800	A	G	A32359800G	BRCA2	NM_000059.3(BRCA2):c.7805+1871A>G	noncoding	Benign
13	32360294	G	A	G32360294A	BRCA2	NM_000059.3(BRCA2):c.7806-2229G>A	noncoding	Benign
13	32360774	G	A	G32360774A	BRCA2	NM_000059.3(BRCA2):c.7806-1749G>A	noncoding	Benign
13	32360873	C	T	C32360873T	BRCA2	NM_000059.3(BRCA2):c.7806-1650C>T	noncoding	Benign
13	32361269	T	C	T32361269C	BRCA2	NM_000059.3(BRCA2):c.7806-1254T>C	noncoding	Benign
13	32361504	G	A	G32361504A	BRCA2	NM_000059.3(BRCA2):c.7806-1019G>A	noncoding	Benign
13	32362235	G	A	G32362235A	BRCA2	NM_000059.3(BRCA2):c.7806-288G>A	noncoding	Benign
13	32362483	A	G	A32362483G	BRCA2	NM_000059.3(BRCA2):c.7806-40A>G	noncoding	Benign
13	32362509	T	C	T32362509C	BRCA2	NM_000059.4(BRCA2):c.7806-14T>C	noncoding	Benign
13	32362514	T	G	T32362514G	BRCA2	NM_000059.4(BRCA2):c.7806-9T>G	noncoding	Pathogenic
13	32362521	A	G	A32362521G	BRCA2	NM_000059.4(BRCA2):c.7806-2A>G	noncoding	Pathogenic
13	32362521	A	T	A32362521T	BRCA2	NM_000059.3(BRCA2):c.7806-2A>T	noncoding	Pathogenic/Likely_pathogenic
13	32362522	G	A	G32362522A	BRCA2	NM_000059.3(BRCA2):c.7806-1G>A	noncoding	Pathogenic
13	32362522	G	T	G32362522T	BRCA2	NM_000059.3(BRCA2):c.7806-1G>T	noncoding	Pathogenic
13	32362573	G	A	G32362573A	BRCA2	NM_000059.3(BRCA2):c.7856G>A:p.Trp2619Ter	coding	Pathogenic
13	32362574	G	A	G32362574A	BRCA2	NM_000059.4(BRCA2):c.7857G>A:p.Trp2619Ter	coding	Pathogenic
13	32362580	T	A	T32362580A	BRCA2	NM_000059.3(BRCA2):c.7863T>A:p.Tyr2621Ter	coding	Pathogenic
13	32362589	T	G	T32362589G	BRCA2	NM_000059.3(BRCA2):c.7872T>G:p.Tyr2624Ter	coding	Pathogenic
13	32362594	G	A	G32362594A	BRCA2	NM_000059.3(BRCA2):c.7877G>A:p.Trp2626Ter	coding	Pathogenic
13	32362595	G	A	G32362595A	BRCA2	NM_000059.4(BRCA2):c.7878G>A:p.Trp2626Ter	coding	Pathogenic
13	32362595	G	C	G32362595C	BRCA2	NM_000059.4(BRCA2):c.7878G>C:p.Trp2626Cys	coding	Pathogenic
13	32362596	A	T	A32362596T	BRCA2	NM_000059.4(BRCA2):c.7879A>T:p.Ile2627Phe	coding	Pathogenic
13	32362598	C	A	C32362598A	BRCA2	NM_000059.3(BRCA2):c.7881C>A:p.Ile2627=	coding	Benign/Likely_benign
13	32362603	G	A	G32362603A	BRCA2	NM_000059.3(BRCA2):c.7886G>A:p.Trp2629Ter	coding	Pathogenic
13	32362604	G	A	G32362604A	BRCA2	NM_000059.3(BRCA2):c.7887G>A:p.Trp2629Ter	coding	Pathogenic
13	32362619	G	A	G32362619A	BRCA2	NM_000059.4(BRCA2):c.7902G>A:p.Met2634Ile	coding	Benign
13	32362625	T	A	T32362625A	BRCA2	NM_000059.4(BRCA2):c.7908T>A:p.Cys2636Ter	coding	Pathogenic
13	32362638	G	T	G32362638T	BRCA2	NM_000059.3(BRCA2):c.7921G>T:p.Glu2641Ter	coding	Pathogenic
13	32362650	A	T	A32362650T	BRCA2	NM_000059.3(BRCA2):c.7933A>T:p.Arg2645Ter	coding	Pathogenic
13	32362675	T	C	T32362675C	BRCA2	NM_000059.3(BRCA2):c.7958T>C:p.Leu2653Pro	coding	Pathogenic/Likely_pathogenic
13	32362680	C	T	C32362680T	BRCA2	NM_000059.3(BRCA2):c.7963C>T:p.Gln2655Ter	coding	Pathogenic
13	32362691	C	A	C32362691A	BRCA2	NM_000059.3(BRCA2):c.7974C>A:p.Tyr2658Ter	coding	Pathogenic
13	32362691	C	G	C32362691G	BRCA2	NM_000059.3(BRCA2):c.7974C>G:p.Tyr2658Ter	coding	Pathogenic
13	32362692	A	G	A32362692G	BRCA2	NM_000059.3(BRCA2):c.7975A>G:p.Arg2659Gly	coding	Pathogenic
13	32362693	G	A	G32362693A	BRCA2	NM_000059.4(BRCA2):c.7976G>A:p.Arg2659Lys	coding	Pathogenic
13	32362693	G	C	G32362693C	BRCA2	NM_000059.3(BRCA2):c.7976G>C:p.Arg2659Thr	coding	Pathogenic
13	32362694	G	A	G32362694A	BRCA2	NM_000059.3(BRCA2):c.7976+1G>A	coding	Pathogenic
13	32362695	C	A	C32362695A	BRCA2	NM_000059.3(BRCA2):c.7976+2C>A	noncoding	Pathogenic
13	32362695	C	G	C32362695G	BRCA2	NM_000059.3(BRCA2):c.7976+2C>G	noncoding	Pathogenic
13	32362716	C	G	C32362716G	BRCA2	NM_000059.3(BRCA2):c.7976+23C>G	noncoding	Benign
13	32362716	C	T	C32362716T	BRCA2	NM_000059.3(BRCA2):c.7976+23C>T	noncoding	Benign
13	32362738	G	C	G32362738C	BRCA2	NM_000059.3(BRCA2):c.7976+45G>C	noncoding	Benign/Likely_benign
13	32363165	G	A	G32363165A	BRCA2	NM_000059.3(BRCA2):c.7977-14G>A	noncoding	Benign/Likely_benign
13	32363177	A	T	A32363177T	BRCA2	NM_000059.3(BRCA2):c.7977-2A>T	noncoding	Pathogenic
13	32363178	G	A	G32363178A	BRCA2	NM_000059.3(BRCA2):c.7977-1G>A	noncoding	Pathogenic
13	32363178	G	C	G32363178C	BRCA2	NM_000059.4(BRCA2):c.7977-1G>C	noncoding	Pathogenic
13	32363178	G	T	G32363178T	BRCA2	NM_000059.3(BRCA2):c.7977-1G>T	noncoding	Pathogenic/Likely_pathogenic
13	32363180	T	G	T32363180G	BRCA2	NM_000059.3(BRCA2):c.7978T>G:p.Tyr2660Asp	coding	Pathogenic/Likely_pathogenic
13	32363182	T	A	T32363182A	BRCA2	NM_000059.4(BRCA2):c.7980T>A:p.Tyr2660Ter	coding	Pathogenic
13	32363182	T	G	T32363182G	BRCA2	NM_000059.3(BRCA2):c.7980T>G:p.Tyr2660Ter	coding	Pathogenic
13	32363189	G	T	G32363189T	BRCA2	NM_000059.3(BRCA2):c.7987G>T:p.Glu2663Ter	coding	Pathogenic
13	32363190	A	T	A32363190T	BRCA2	NM_000059.4(BRCA2):c.7988A>T:p.Glu2663Val	coding	Pathogenic
13	32363196	A	G	A32363196G	BRCA2	NM_000059.4(BRCA2):c.7994A>G:p.Asp2665Gly	coding	Benign
13	32363198	A	T	A32363198T	BRCA2	NM_000059.3(BRCA2):c.7996A>T:p.Arg2666Ter	coding	Pathogenic
13	32363204	A	T	A32363204T	BRCA2	NM_000059.3(BRCA2):c.8002A>T:p.Arg2668Ter	coding	Pathogenic
13	32363211	C	A	C32363211A	BRCA2	NM_000059.4(BRCA2):c.8009C>A:p.Ser2670Ter	coding	Pathogenic
13	32363225	A	G	A32363225G	BRCA2	NM_000059.3(BRCA2):c.8023A>G:p.Ile2675Val	coding	Pathogenic
13	32363231	G	T	G32363231T	BRCA2	NM_000059.3(BRCA2):c.8029G>T:p.Glu2677Ter	coding	Pathogenic
13	32363265	T	C	T32363265C	BRCA2	NM_000059.3(BRCA2):c.8063T>C:p.Leu2688Pro	coding	Pathogenic/Likely_pathogenic
13	32363269	T	A	T32363269A	BRCA2	NM_000059.4(BRCA2):c.8067T>A:p.Cys2689Ter	coding	Pathogenic
13	32363286	C	G	C32363286G	BRCA2	NM_000059.3(BRCA2):c.8084C>G:p.Ser2695Ter	coding	Pathogenic
13	32363289	T	A	T32363289A	BRCA2	NM_000059.3(BRCA2):c.8087T>A:p.Leu2696Ter	coding	Pathogenic
13	32363342	C	T	C32363342T	BRCA2	NM_000059.3(BRCA2):c.8140C>T:p.Gln2714Ter	coding	Pathogenic
13	32363345	A	T	A32363345T	BRCA2	NM_000059.3(BRCA2):c.8143A>T:p.Lys2715Ter	coding	Pathogenic
13	32363351	G	T	G32363351T	BRCA2	NM_000059.4(BRCA2):c.8149G>T:p.Ala2717Ser	coding	Benign
13	32363367	C	G	C32363367G	BRCA2	NM_000059.3(BRCA2):c.8165C>G:p.Thr2722Arg	coding	Pathogenic
13	32363369	G	C	G32363369C	BRCA2	NM_000059.4(BRCA2):c.8167G>C:p.Asp2723His	coding	Pathogenic
13	32363370	A	G	A32363370G	BRCA2	NM_000059.3(BRCA2):c.8168A>G:p.Asp2723Gly	coding	Pathogenic
13	32363376	G	A	G32363376A	BRCA2	NM_000059.4(BRCA2):c.8174G>A:p.Trp2725Ter	coding	Pathogenic
13	32363377	G	A	G32363377A	BRCA2	NM_000059.3(BRCA2):c.8175G>A:p.Trp2725Ter	coding	Pathogenic
13	32363380	T	A	T32363380A	BRCA2	NM_000059.4(BRCA2):c.8178T>A:p.Tyr2726Ter	coding	Pathogenic
13	32363384	G	A	G32363384A	BRCA2	NM_000059.4(BRCA2):c.8182G>A:p.Val2728Ile	coding	Benign
13	32363389	G	T	G32363389T	BRCA2	NM_000059.3(BRCA2):c.8187G>T:p.Lys2729Asn	coding	Benign
13	32363393	C	T	C32363393T	BRCA2	NM_000059.3(BRCA2):c.8191C>T:p.Gln2731Ter	coding	Pathogenic
13	32363397	T	A	T32363397A	BRCA2	NM_000059.3(BRCA2):c.8195T>A:p.Leu2732Ter	coding	Pathogenic
13	32363397	T	G	T32363397G	BRCA2	NM_000059.3(BRCA2):c.8195T>G:p.Leu2732Ter	coding	Pathogenic
13	32363412	T	A	T32363412A	BRCA2	NM_000059.3(BRCA2):c.8210T>A:p.Leu2737Ter	coding	Pathogenic
13	32363421	T	A	T32363421A	BRCA2	NM_000059.3(BRCA2):c.8219T>A:p.Leu2740Ter	coding	Pathogenic
13	32363445	G	A	G32363445A	BRCA2	NM_000059.4(BRCA2):c.8243G>A:p.Gly2748Asp	coding	Pathogenic
13	32363447	C	T	C32363447T	BRCA2	NM_000059.4(BRCA2):c.8245C>T:p.Gln2749Ter	coding	Pathogenic
13	32363497	T	A	T32363497A	BRCA2	NM_000059.3(BRCA2):c.8295T>A:p.Cys2765Ter	coding	Pathogenic
13	32363510	G	A	G32363510A	BRCA2	NM_000059.3(BRCA2):c.8308G>A:p.Ala2770Thr	coding	Benign
13	32363516	G	T	G32363516T	BRCA2	NM_000059.3(BRCA2):c.8314G>T:p.Glu2772Ter	coding	Pathogenic
13	32363529	T	G	T32363529G	BRCA2	NM_000059.3(BRCA2):c.8327T>G:p.Leu2776Ter	coding	Pathogenic
13	32363531	A	T	A32363531T	BRCA2	NM_000059.3(BRCA2):c.8329A>T:p.Lys2777Ter	coding	Pathogenic
13	32363534	G	A	G32363534A	BRCA2	NM_000059.3(BRCA2):c.8331+1G>A	coding	Pathogenic/Likely_pathogenic
13	32363534	G	T	G32363534T	BRCA2	NM_000059.4(BRCA2):c.8331+1G>T	coding	Pathogenic
13	32363535	T	A	T32363535A	BRCA2	NM_000059.3(BRCA2):c.8331+2T>A	noncoding	Pathogenic
13	32363535	T	C	T32363535C	BRCA2	NM_000059.4(BRCA2):c.8331+2T>C	noncoding	Pathogenic/Likely_pathogenic
13	32363535	T	G	T32363535G	BRCA2	NM_000059.3(BRCA2):c.8331+2T>G	noncoding	Pathogenic/Likely_pathogenic
13	32363549	C	G	C32363549G	BRCA2	NM_000059.3(BRCA2):c.8331+16C>G	noncoding	Benign/Likely_benign
13	32363642	G	A	G32363642A	BRCA2	NM_000059.3(BRCA2):c.8331+109G>A	noncoding	Benign
13	32363866	A	G	A32363866G	BRCA2	NM_000059.3(BRCA2):c.8331+333A>G	noncoding	Benign
13	32364036	A	C	A32364036C	BRCA2	NM_000059.3(BRCA2):c.8331+503A>C	noncoding	Benign
13	32364315	A	G	A32364315G	BRCA2	NM_000059.3(BRCA2):c.8331+782A>G	noncoding	Benign
13	32364476	T	G	T32364476G	BRCA2	NM_000059.3(BRCA2):c.8331+943T>G	noncoding	Benign
13	32364532	T	A	T32364532A	BRCA2	NM_000059.3(BRCA2):c.8331+999T>A	noncoding	Benign
13	32364744	A	G	A32364744G	BRCA2	NM_000059.3(BRCA2):c.8331+1211A>G	noncoding	Benign
13	32364848	C	T	C32364848T	BRCA2	NM_000059.3(BRCA2):c.8331+1315C>T	noncoding	Benign
13	32364948	C	T	C32364948T	BRCA2	NM_000059.3(BRCA2):c.8331+1415C>T	noncoding	Benign
13	32368453	T	C	T32368453C	BRCA2	NM_000059.3(BRCA2):c.8332-1949T>C	noncoding	Benign
13	32368578	C	T	C32368578T	BRCA2	NM_000059.3(BRCA2):c.8332-1824C>T	noncoding	Benign
13	32369612	C	A	C32369612A	BRCA2	NM_000059.3(BRCA2):c.8332-790C>A	noncoding	Benign
13	32369645	C	T	C32369645T	BRCA2	NM_000059.3(BRCA2):c.8332-757C>T	noncoding	Benign
13	32369699	G	A	G32369699A	BRCA2	NM_000059.3(BRCA2):c.8332-703G>A	noncoding	Benign
13	32369919	G	T	G32369919T	BRCA2	NM_000059.3(BRCA2):c.8332-483G>T	noncoding	Benign
13	32369961	G	A	G32369961A	BRCA2	NM_000059.3(BRCA2):c.8332-441G>A	noncoding	Benign
13	32370336	T	C	T32370336C	BRCA2	NM_000059.3(BRCA2):c.8332-66T>C	noncoding	Benign
13	32370389	T	G	T32370389G	BRCA2	NM_000059.3(BRCA2):c.8332-13T>G	noncoding	Pathogenic
13	32370400	A	G	A32370400G	BRCA2	NM_000059.3(BRCA2):c.8332-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	32370401	G	A	G32370401A	BRCA2	NM_000059.3(BRCA2):c.8332-1G>A	noncoding	Pathogenic
13	32370401	G	T	G32370401T	BRCA2	NM_000059.3(BRCA2):c.8332-1G>T	noncoding	Pathogenic/Likely_pathogenic
13	32370433	G	A	G32370433A	BRCA2	NM_000059.3(BRCA2):c.8363G>A:p.Trp2788Ter	coding	Pathogenic
13	32370434	G	A	G32370434A	BRCA2	NM_000059.4(BRCA2):c.8364G>A:p.Trp2788Ter	coding	Pathogenic
13	32370447	G	A	G32370447A	BRCA2	NM_000059.4(BRCA2):c.8377G>A:p.Gly2793Arg	coding	Pathogenic/Likely_pathogenic
13	32370447	G	T	G32370447T	BRCA2	NM_000059.3(BRCA2):c.8377G>T:p.Gly2793Ter	coding	Pathogenic
13	32370465	A	T	A32370465T	BRCA2	NM_000059.3(BRCA2):c.8395A>T:p.Arg2799Ter	coding	Pathogenic
13	32370487	C	G	C32370487G	BRCA2	NM_000059.3(BRCA2):c.8417C>G:p.Ser2806Ter	coding	Pathogenic
13	32370490	C	A	C32370490A	BRCA2	NM_000059.3(BRCA2):c.8420C>A:p.Ser2807Ter	coding	Pathogenic
13	32370491	G	A	G32370491A	BRCA2	NM_000059.3(BRCA2):c.8421G>A:p.Ser2807=	coding	Benign
13	32370521	T	A	T32370521A	BRCA2	NM_000059.3(BRCA2):c.8451T>A:p.Cys2817Ter	coding	Pathogenic
13	32370530	A	C	A32370530C	BRCA2	NM_000059.4(BRCA2):c.8460A>C:p.Val2820=	coding	Benign
13	32370540	A	T	A32370540T	BRCA2	NM_000059.4(BRCA2):c.8470A>T:p.Arg2824Ter	coding	Pathogenic
13	32370548	C	A	C32370548A	BRCA2	NM_000059.3(BRCA2):c.8478C>A:p.Tyr2826Ter	coding	Pathogenic
13	32370548	C	G	C32370548G	BRCA2	NM_000059.3(BRCA2):c.8478C>G:p.Tyr2826Ter	coding	Pathogenic
13	32370555	C	T	C32370555T	BRCA2	NM_000059.3(BRCA2):c.8485C>T:p.Gln2829Ter	coding	Pathogenic
13	32370558	G	A	G32370558A	BRCA2	NM_000059.4(BRCA2):c.8487+1G>A	coding	Pathogenic
13	32370558	G	T	G32370558T	BRCA2	NM_000059.3(BRCA2):c.8487+1G>T	coding	Pathogenic
13	32370559	T	C	T32370559C	BRCA2	NM_000059.3(BRCA2):c.8487+2T>C	noncoding	Pathogenic
13	32370576	A	G	A32370576G	BRCA2	NM_000059.4(BRCA2):c.8487+19A>G	noncoding	Benign
13	32370604	C	T	C32370604T	BRCA2	NM_000059.3(BRCA2):c.8487+47C>T	noncoding	Benign
13	32370848	C	T	C32370848T	BRCA2	NM_000059.3(BRCA2):c.8488-108C>T	noncoding	Benign
13	32370936	T	G	T32370936G	BRCA2	NM_000059.3(BRCA2):c.8488-20T>G	noncoding	Benign
13	32370954	A	C	A32370954C	BRCA2	NM_000059.4(BRCA2):c.8488-2A>C	noncoding	Pathogenic/Likely_pathogenic
13	32370955	G	A	G32370955A	BRCA2	NM_000059.4(BRCA2):c.8488-1G>A	noncoding	Pathogenic
13	32370955	G	T	G32370955T	BRCA2	NM_000059.3(BRCA2):c.8488-1G>T	noncoding	Pathogenic/Likely_pathogenic
13	32370957	G	A	G32370957A	BRCA2	NM_000059.4(BRCA2):c.8489G>A:p.Trp2830Ter	coding	Pathogenic
13	32370958	G	A	G32370958A	BRCA2	NM_000059.3(BRCA2):c.8490G>A:p.Trp2830Ter	coding	Pathogenic
13	32370962	G	T	G32370962T	BRCA2	NM_000059.3(BRCA2):c.8494G>T:p.Glu2832Ter	coding	Pathogenic
13	32370965	A	T	A32370965T	BRCA2	NM_000059.3(BRCA2):c.8497A>T:p.Lys2833Ter	coding	Pathogenic
13	32370971	T	C	T32370971C	BRCA2	NM_000059.4(BRCA2):c.8503T>C:p.Ser2835Pro	coding	Benign
13	32370972	C	A	C32370972A	BRCA2	NM_000059.3(BRCA2):c.8504C>A:p.Ser2835Ter	coding	Pathogenic
13	32370972	C	G	C32370972G	BRCA2	NM_000059.3(BRCA2):c.8504C>G:p.Ser2835Ter	coding	Pathogenic
13	32370981	T	A	T32370981A	BRCA2	NM_000059.3(BRCA2):c.8513T>A:p.Leu2838Ter	coding	Pathogenic
13	32370981	T	G	T32370981G	BRCA2	NM_000059.3(BRCA2):c.8513T>G:p.Leu2838Ter	coding	Pathogenic
13	32370985	C	A	C32370985A	BRCA2	NM_000059.3(BRCA2):c.8517C>A:p.Tyr2839Ter	coding	Pathogenic
13	32370993	G	A	G32370993A	BRCA2	NM_000059.4(BRCA2):c.8525G>A:p.Arg2842His	coding	Benign
13	32371004	G	T	G32371004T	BRCA2	NM_000059.3(BRCA2):c.8536G>T:p.Glu2846Ter	coding	Pathogenic
13	32371016	G	T	G32371016T	BRCA2	NM_000059.3(BRCA2):c.8548G>T:p.Glu2850Ter	coding	Pathogenic
13	32371025	A	T	A32371025T	BRCA2	NM_000059.3(BRCA2):c.8557A>T:p.Lys2853Ter	coding	Pathogenic
13	32371030	T	A	T32371030A	BRCA2	NM_000059.3(BRCA2):c.8562T>A:p.Tyr2854Ter	coding	Pathogenic
13	32371030	T	G	T32371030G	BRCA2	NM_000059.3(BRCA2):c.8562T>G:p.Tyr2854Ter	coding	Pathogenic/Likely_pathogenic
13	32371040	C	T	C32371040T	BRCA2	NM_000059.4(BRCA2):c.8572C>T:p.Gln2858Ter	coding	Pathogenic
13	32371043	C	T	C32371043T	BRCA2	NM_000059.4(BRCA2):c.8575C>T:p.Gln2859Ter	coding	Pathogenic
13	32371049	A	T	A32371049T	BRCA2	NM_000059.3(BRCA2):c.8581A>T:p.Arg2861Ter	coding	Pathogenic
13	32371062	T	A	T32371062A	BRCA2	NM_000059.3(BRCA2):c.8594T>A:p.Leu2865Ter	coding	Pathogenic
13	32371076	C	T	C32371076T	BRCA2	NM_000059.3(BRCA2):c.8608C>T:p.Gln2870Ter	coding	Pathogenic
13	32371088	G	T	G32371088T	BRCA2	NM_000059.3(BRCA2):c.8620G>T:p.Glu2874Ter	coding	Pathogenic
13	32371097	G	T	G32371097T	BRCA2	NM_000059.3(BRCA2):c.8629G>T:p.Glu2877Ter	coding	Pathogenic
13	32371101	G	A	G32371101A	BRCA2	NM_000059.3(BRCA2):c.8632+1G>A	coding	Pathogenic
13	32371101	G	T	G32371101T	BRCA2	NM_000059.3(BRCA2):c.8632+1G>T	coding	Pathogenic
13	32371400	A	T	A32371400T	BRCA2	NM_000059.3(BRCA2):c.8632+300A>T	noncoding	Benign
13	32371432	T	A	T32371432A	BRCA2	NM_000059.3(BRCA2):c.8632+332T>A	noncoding	Benign
13	32371474	C	T	C32371474T	BRCA2	NM_000059.3(BRCA2):c.8632+374C>T	noncoding	Benign
13	32371492	T	C	T32371492C	BRCA2	NM_000059.3(BRCA2):c.8632+392T>C	noncoding	Benign
13	32376194	T	A	T32376194A	BRCA2	NM_000059.3(BRCA2):c.8633-476T>A	noncoding	Benign
13	32376644	A	G	A32376644G	BRCA2	NM_000059.3(BRCA2):c.8633-26A>G	noncoding	Benign/Likely_benign
13	32376654	C	G	C32376654G	BRCA2	NM_000059.3(BRCA2):c.8633-16C>G	noncoding	Benign/Likely_benign
13	32376668	A	G	A32376668G	BRCA2	NM_000059.3(BRCA2):c.8633-2A>G	noncoding	Pathogenic
13	32376668	A	T	A32376668T	BRCA2	NM_000059.3(BRCA2):c.8633-2A>T	noncoding	Pathogenic
13	32376669	G	A	G32376669A	BRCA2	NM_000059.3(BRCA2):c.8633-1G>A	noncoding	Pathogenic/Likely_pathogenic
13	32376681	A	T	A32376681T	BRCA2	NM_000059.3(BRCA2):c.8644A>T:p.Lys2882Ter	coding	Pathogenic
13	32376689	T	G	T32376689G	BRCA2	NM_000059.3(BRCA2):c.8652T>G:p.Tyr2884Ter	coding	Pathogenic
13	32376697	C	G	C32376697G	BRCA2	NM_000059.4(BRCA2):c.8660C>G:p.Ser2887Ter	coding	Pathogenic
13	32376699	C	T	C32376699T	BRCA2	NM_000059.3(BRCA2):c.8662C>T:p.Arg2888Cys	coding	Benign
13	32376714	C	T	C32376714T	BRCA2	NM_000059.3(BRCA2):c.8677C>T:p.Gln2893Ter	coding	Pathogenic
13	32376717	C	T	C32376717T	BRCA2	NM_000059.3(BRCA2):c.8680C>T:p.Gln2894Ter	coding	Pathogenic
13	32376732	C	T	C32376732T	BRCA2	NM_000059.3(BRCA2):c.8695C>T:p.Gln2899Ter	coding	Pathogenic
13	32376744	G	T	G32376744T	BRCA2	NM_000059.3(BRCA2):c.8707G>T:p.Glu2903Ter	coding	Pathogenic
13	32376762	A	T	A32376762T	BRCA2	NM_000059.4(BRCA2):c.8725A>T:p.Lys2909Ter	coding	Pathogenic
13	32376769	C	A	C32376769A	BRCA2	NM_000059.3(BRCA2):c.8732C>A:p.Ala2911Glu	coding	Pathogenic
13	32376771	G	A	G32376771A	BRCA2	NM_000059.3(BRCA2):c.8734G>A:p.Ala2912Thr	coding	Benign
13	32376791	G	A	G32376791A	BRCA2	NM_000059.4(BRCA2):c.8754G>A:p.Glu2918=	coding	Pathogenic/Likely_pathogenic
13	32376792	G	A	G32376792A	BRCA2	NM_000059.3(BRCA2):c.8754+1G>A	coding	Pathogenic
13	32376792	G	C	G32376792C	BRCA2	NM_000059.4(BRCA2):c.8754+1G>C	coding	Pathogenic/Likely_pathogenic
13	32376792	G	T	G32376792T	BRCA2	NM_000059.3(BRCA2):c.8754+1G>T	coding	Pathogenic/Likely_pathogenic
13	32376793	T	G	T32376793G	BRCA2	NM_000059.3(BRCA2):c.8754+2T>G	noncoding	Pathogenic
13	32376794	G	C	G32376794C	BRCA2	NM_000059.3(BRCA2):c.8754+3G>C	noncoding	Pathogenic/Likely_pathogenic
13	32376795	A	G	A32376795G	BRCA2	NM_000059.3(BRCA2):c.8754+4A>G	noncoding	Pathogenic
13	32376796	G	A	G32376796A	BRCA2	NM_000059.3(BRCA2):c.8754+5G>A	noncoding	Pathogenic/Likely_pathogenic
13	32376866	A	G	A32376866G	BRCA2	NM_000059.3(BRCA2):c.8754+75A>G	noncoding	Benign
13	32376960	A	G	A32376960G	BRCA2	NM_000059.3(BRCA2):c.8754+169A>G	noncoding	Benign
13	32376974	A	C	A32376974C	BRCA2	NM_000059.3(BRCA2):c.8754+183A>C	noncoding	Benign
13	32376978	C	T	C32376978T	BRCA2	NM_000059.3(BRCA2):c.8754+187C>T	noncoding	Benign
13	32377040	G	A	G32377040A	BRCA2	NM_000059.3(BRCA2):c.8754+249G>A	noncoding	Benign
13	32378219	T	C	T32378219C	BRCA2	NM_000059.3(BRCA2):c.8755-1098T>C	noncoding	Benign
13	32378309	G	C	G32378309C	BRCA2	NM_000059.3(BRCA2):c.8755-1008G>C	noncoding	Benign
13	32378348	A	G	A32378348G	BRCA2	NM_000059.3(BRCA2):c.8755-969A>G	noncoding	Benign
13	32378476	T	C	T32378476C	BRCA2	NM_000059.3(BRCA2):c.8755-841T>C	noncoding	Benign
13	32378757	G	A	G32378757A	BRCA2	NM_000059.3(BRCA2):c.8755-560G>A	noncoding	Benign
13	32379045	A	G	A32379045G	BRCA2	NM_000059.3(BRCA2):c.8755-272A>G	noncoding	Benign
13	32379128	G	A	G32379128A	BRCA2	NM_000059.3(BRCA2):c.8755-189G>A	noncoding	Benign
13	32379251	T	C	T32379251C	BRCA2	NM_000059.3(BRCA2):c.8755-66T>C	noncoding	Benign
13	32379276	G	T	G32379276T	BRCA2	NM_000059.3(BRCA2):c.8755-41G>T	noncoding	Benign
13	32379279	C	T	C32379279T	BRCA2	NM_000059.3(BRCA2):c.8755-38C>T	noncoding	Benign
13	32379281	G	T	G32379281T	BRCA2	NM_000059.3(BRCA2):c.8755-36G>T	noncoding	Benign
13	32379282	A	T	A32379282T	BRCA2	NM_000059.3(BRCA2):c.8755-35A>T	noncoding	Benign
13	32379285	G	T	G32379285T	BRCA2	NM_000059.3(BRCA2):c.8755-32G>T	noncoding	Benign
13	32379316	G	A	G32379316A	BRCA2	NM_000059.4(BRCA2):c.8755-1G>A	noncoding	Pathogenic
13	32379316	G	T	G32379316T	BRCA2	NM_000059.4(BRCA2):c.8755-1G>T	noncoding	Pathogenic
13	32379322	T	G	T32379322G	BRCA2	NM_000059.3(BRCA2):c.8760T>G:p.Tyr2920Ter	coding	Pathogenic
13	32379326	A	G	A32379326G	BRCA2	NM_000059.3(BRCA2):c.8764A>G:p.Ser2922Gly	coding	Benign
13	32379332	G	T	G32379332T	BRCA2	NM_000059.4(BRCA2):c.8770G>T:p.Glu2924Ter	coding	Pathogenic
13	32379335	C	T	C32379335T	BRCA2	NM_000059.3(BRCA2):c.8773C>T:p.Gln2925Ter	coding	Pathogenic
13	32379339	T	A	T32379339A	BRCA2	NM_000059.3(BRCA2):c.8777T>A:p.Leu2926Ter	coding	Pathogenic
13	32379339	T	G	T32379339G	BRCA2	NM_000059.4(BRCA2):c.8777T>G:p.Leu2926Ter	coding	Pathogenic
13	32379383	C	T	C32379383T	BRCA2	NM_000059.3(BRCA2):c.8821C>T:p.Gln2941Ter	coding	Pathogenic
13	32379392	A	T	A32379392T	BRCA2	NM_000059.4(BRCA2):c.8830A>T:p.Ile2944Phe	coding	Benign
13	32379399	T	A	T32379399A	BRCA2	NM_000059.3(BRCA2):c.8837T>A:p.Leu2946Ter	coding	Pathogenic
13	32379401	G	T	G32379401T	BRCA2	NM_000059.3(BRCA2):c.8839G>T:p.Glu2947Ter	coding	Pathogenic
13	32379413	G	A	G32379413A	BRCA2	NM_000059.4(BRCA2):c.8851G>A:p.Ala2951Thr	coding	Benign
13	32379431	C	T	C32379431T	BRCA2	NM_000059.3(BRCA2):c.8869C>T:p.Gln2957Ter	coding	Pathogenic
13	32379437	G	T	G32379437T	BRCA2	NM_000059.3(BRCA2):c.8875G>T:p.Glu2959Ter	coding	Pathogenic
13	32379440	C	T	C32379440T	BRCA2	NM_000059.4(BRCA2):c.8878C>T:p.Gln2960Ter	coding	Pathogenic
13	32379450	C	G	C32379450G	BRCA2	NM_000059.3(BRCA2):c.8888C>G:p.Ser2963Ter	coding	Pathogenic
13	32379467	G	A	G32379467A	BRCA2	NM_000059.4(BRCA2):c.8905G>A:p.Val2969Met	coding	Benign
13	32379471	G	A	G32379471A	BRCA2	NM_000059.3(BRCA2):c.8909G>A:p.Trp2970Ter	coding	Pathogenic
13	32379472	G	A	G32379472A	BRCA2	NM_000059.3(BRCA2):c.8910G>A:p.Trp2970Ter	coding	Pathogenic
13	32379473	A	T	A32379473T	BRCA2	NM_000059.3(BRCA2):c.8911A>T:p.Lys2971Ter	coding	Pathogenic
13	32379477	T	A	T32379477A	BRCA2	NM_000059.3(BRCA2):c.8915T>A:p.Leu2972Ter	coding	Pathogenic
13	32379479	C	T	C32379479T	BRCA2	NM_000059.4(BRCA2):c.8917C>T:p.Arg2973Cys	coding	Benign
13	32379493	T	A	T32379493A	BRCA2	NM_000059.3(BRCA2):c.8931T>A:p.Tyr2977Ter	coding	Pathogenic
13	32379493	T	G	T32379493G	BRCA2	NM_000059.3(BRCA2):c.8931T>G:p.Tyr2977Ter	coding	Pathogenic
13	32379495	C	A	C32379495A	BRCA2	NM_000059.3(BRCA2):c.8933C>A:p.Ser2978Ter	coding	Pathogenic
13	32379495	C	G	C32379495G	BRCA2	NM_000059.3(BRCA2):c.8933C>G:p.Ser2978Ter	coding	Pathogenic
13	32379497	A	T	A32379497T	BRCA2	NM_000059.4(BRCA2):c.8935A>T:p.Lys2979Ter	coding	Pathogenic
13	32379500	A	T	A32379500T	BRCA2	NM_000059.3(BRCA2):c.8938A>T:p.Lys2980Ter	coding	Pathogenic
13	32379503	G	T	G32379503T	BRCA2	NM_000059.4(BRCA2):c.8941G>T:p.Glu2981Ter	coding	Pathogenic
13	32379513	C	A	C32379513A	BRCA2	NM_000059.3(BRCA2):c.8951C>A:p.Ser2984Ter	coding	Pathogenic
13	32379513	C	G	C32379513G	BRCA2	NM_000059.4(BRCA2):c.8951C>G:p.Ser2984Ter	coding	Pathogenic
13	32379516	G	A	G32379516A	BRCA2	NM_000059.3(BRCA2):c.8953+1G>A	coding	Pathogenic/Likely_pathogenic
13	32379516	G	T	G32379516T	BRCA2	NM_000059.4(BRCA2):c.8953+1G>T	coding	Pathogenic
13	32379517	T	G	T32379517G	BRCA2	NM_000059.3(BRCA2):c.8953+2T>G	noncoding	Pathogenic
13	32379531	C	T	C32379531T	BRCA2	NM_000059.3(BRCA2):c.8953+16C>T	noncoding	Benign/Likely_benign
13	32379613	T	C	T32379613C	BRCA2	NM_000059.3(BRCA2):c.8953+98T>C	noncoding	Benign
13	32379735	T	G	T32379735G	BRCA2	NM_000059.3(BRCA2):c.8954-15T>G	noncoding	Pathogenic
13	32379748	A	C	A32379748C	BRCA2	NM_000059.4(BRCA2):c.8954-2A>C	noncoding	Pathogenic
13	32379748	A	T	A32379748T	BRCA2	NM_000059.3(BRCA2):c.8954-2A>T	noncoding	Pathogenic
13	32379765	G	A	G32379765A	BRCA2	NM_000059.3(BRCA2):c.8969G>A:p.Trp2990Ter	coding	Pathogenic
13	32379766	G	A	G32379766A	BRCA2	NM_000059.3(BRCA2):c.8970G>A:p.Trp2990Ter	coding	Pathogenic
13	32379774	C	A	C32379774A	BRCA2	NM_000059.3(BRCA2):c.8978C>A:p.Ser2993Ter	coding	Pathogenic
13	32379774	C	G	C32379774G	BRCA2	NM_000059.3(BRCA2):c.8978C>G:p.Ser2993Ter	coding	Pathogenic
13	32379783	T	A	T32379783A	BRCA2	NM_000059.3(BRCA2):c.8987T>A:p.Leu2996Ter	coding	Pathogenic
13	32379787	T	G	T32379787G	BRCA2	NM_000059.3(BRCA2):c.8991T>G:p.Tyr2997Ter	coding	Pathogenic
13	32379795	T	A	T32379795A	BRCA2	NM_000059.3(BRCA2):c.8999T>A:p.Leu3000Ter	coding	Pathogenic
13	32379795	T	G	T32379795G	BRCA2	NM_000059.4(BRCA2):c.8999T>G:p.Leu3000Ter	coding	Pathogenic
13	32379800	G	A	G32379800A	BRCA2	NM_000059.4(BRCA2):c.9004G>A:p.Glu3002Lys	coding	Pathogenic/Likely_pathogenic
13	32379803	G	T	G32379803T	BRCA2	NM_000059.3(BRCA2):c.9007G>T:p.Gly3003Ter	coding	Pathogenic
13	32379814	C	A	C32379814A	BRCA2	NM_000059.3(BRCA2):c.9018C>A:p.Tyr3006Ter	coding	Pathogenic
13	32379814	C	G	C32379814G	BRCA2	NM_000059.3(BRCA2):c.9018C>G:p.Tyr3006Ter	coding	Pathogenic
13	32379823	T	G	T32379823G	BRCA2	NM_000059.3(BRCA2):c.9027T>G:p.Tyr3009Ter	coding	Pathogenic
13	32379834	C	T	C32379834T	BRCA2	NM_000059.4(BRCA2):c.9038C>T:p.Thr3013Ile	coding	Benign
13	32379837	C	A	C32379837A	BRCA2	NM_000059.3(BRCA2):c.9041C>A:p.Ser3014Ter	coding	Pathogenic
13	32379837	C	G	C32379837G	BRCA2	NM_000059.4(BRCA2):c.9041C>G:p.Ser3014Ter	coding	Pathogenic
13	32379839	A	G	A32379839G	BRCA2	NM_000059.3(BRCA2):c.9043A>G:p.Lys3015Glu	coding	Benign
13	32379872	C	T	C32379872T	BRCA2	NM_000059.4(BRCA2):c.9076C>T:p.Gln3026Ter	coding	Pathogenic
13	32379893	A	T	A32379893T	BRCA2	NM_000059.4(BRCA2):c.9097A>T:p.Thr3033Ser	coding	Pathogenic
13	32379896	C	T	C32379896T	BRCA2	NM_000059.4(BRCA2):c.9100C>T:p.Gln3034Ter	coding	Pathogenic
13	32379901	T	G	T32379901G	BRCA2	NM_000059.3(BRCA2):c.9105T>G:p.Tyr3035Ter	coding	Pathogenic
13	32379902	C	T	C32379902T	BRCA2	NM_000059.3(BRCA2):c.9106C>T:p.Gln3036Ter	coding	Pathogenic
13	32379905	C	T	C32379905T	BRCA2	NM_000059.3(BRCA2):c.9109C>T:p.Gln3037Ter	coding	Pathogenic
13	32379913	G	A	G32379913A	BRCA2	NM_000059.4(BRCA2):c.9117G>A:p.Pro3039=	coding	Pathogenic
13	32379914	G	A	G32379914A	BRCA2	NM_000059.3(BRCA2):c.9117+1G>A	coding	Pathogenic
13	32379914	G	T	G32379914T	BRCA2	NM_000059.3(BRCA2):c.9117+1G>T	coding	Pathogenic
13	32379915	T	C	T32379915C	BRCA2	NM_000059.3(BRCA2):c.9117+2T>C	noncoding	Pathogenic
13	32380005	A	C	A32380005C	BRCA2	NM_000059.3(BRCA2):c.9118-2A>C	noncoding	Pathogenic
13	32380005	A	G	A32380005G	BRCA2	NM_000059.4(BRCA2):c.9118-2A>G	noncoding	Pathogenic
13	32380005	A	T	A32380005T	BRCA2	NM_000059.3(BRCA2):c.9118-2A>T	noncoding	Pathogenic/Likely_pathogenic
13	32380006	G	A	G32380006A	BRCA2	NM_000059.3(BRCA2):c.9118-1G>A	noncoding	Pathogenic
13	32380006	G	C	G32380006C	BRCA2	NM_000059.3(BRCA2):c.9118-1G>C	noncoding	Pathogenic
13	32380016	G	T	G32380016T	BRCA2	NM_000059.3(BRCA2):c.9127G>T:p.Glu3043Ter	coding	Pathogenic
13	32380028	C	T	C32380028T	BRCA2	NM_000059.3(BRCA2):c.9139C>T:p.Gln3047Ter	coding	Pathogenic
13	32380036	C	A	C32380036A	BRCA2	NM_000059.3(BRCA2):c.9147C>A:p.Tyr3049Ter	coding	Pathogenic
13	32380036	C	G	C32380036G	BRCA2	NM_000059.3(BRCA2):c.9147C>G:p.Tyr3049Ter	coding	Pathogenic
13	32380037	C	T	C32380037T	BRCA2	NM_000059.3(BRCA2):c.9148C>T:p.Gln3050Ter	coding	Pathogenic
13	32380043	C	T	C32380043T	BRCA2	NM_000059.4(BRCA2):c.9154C>T:p.Arg3052Trp	coding	Pathogenic
13	32380064	A	G	A32380064G	BRCA2	NM_000059.3(BRCA2):c.9175A>G:p.Lys3059Glu	coding	Benign
13	32380071	T	A	T32380071A	BRCA2	NM_000059.3(BRCA2):c.9182T>A:p.Leu3061Ter	coding	Pathogenic
13	32380071	T	G	T32380071G	BRCA2	NM_000059.3(BRCA2):c.9182T>G:p.Leu3061Ter	coding	Pathogenic
13	32380085	C	T	C32380085T	BRCA2	NM_000059.4(BRCA2):c.9196C>T:p.Gln3066Ter	coding	Pathogenic
13	32380096	T	A	T32380096A	BRCA2	NM_000059.3(BRCA2):c.9207T>A:p.Cys3069Ter	coding	Pathogenic
13	32380124	G	A	G32380124A	BRCA2	NM_000059.4(BRCA2):c.9235G>A:p.Val3079Ile	coding	Benign
13	32380136	A	T	A32380136T	BRCA2	NM_000059.3(BRCA2):c.9247A>T:p.Lys3083Ter	coding	Pathogenic
13	32380145	G	T	G32380145T	BRCA2	NM_000059.3(BRCA2):c.9256G>T:p.Gly3086Ter	coding	Pathogenic
13	32380146	G	A	G32380146A	BRCA2	NM_000059.3(BRCA2):c.9256+1G>A	coding	Pathogenic/Likely_pathogenic
13	32380146	G	C	G32380146C	BRCA2	NM_000059.3(BRCA2):c.9256+1G>C	coding	Pathogenic
13	32380158	A	G	A32380158G	BRCA2	NM_000059.3(BRCA2):c.9256+13A>G	noncoding	Benign/Likely_benign
13	32380284	C	T	C32380284T	BRCA2	NM_000059.3(BRCA2):c.9256+139C>T	noncoding	Benign
13	32380424	G	A	G32380424A	BRCA2	NM_000059.3(BRCA2):c.9256+279G>A	noncoding	Benign
13	32386531	C	T	C32386531T	BRCA2	NM_000059.3(BRCA2):c.9256+6386C>T	noncoding	Benign
13	32386560	A	G	A32386560G	BRCA2	NM_000059.3(BRCA2):c.9256+6415A>G	noncoding	Benign
13	32386851	A	G	A32386851G	BRCA2	NM_000059.3(BRCA2):c.9256+6706A>G	noncoding	Benign
13	32389796	T	C	T32389796C	BRCA2	NM_000059.3(BRCA2):c.9257-4893T>C	noncoding	Benign
13	32389810	A	G	A32389810G	BRCA2	NM_000059.3(BRCA2):c.9257-4879A>G	noncoding	Benign
13	32390265	G	T	G32390265T	BRCA2	NM_000059.3(BRCA2):c.9257-4424G>T	noncoding	Benign
13	32390504	T	C	T32390504C	BRCA2	NM_000059.3(BRCA2):c.9257-4185T>C	noncoding	Benign
13	32391173	G	A	G32391173A	BRCA2	NM_000059.3(BRCA2):c.9257-3516G>A	noncoding	Benign
13	32391514	T	C	T32391514C	BRCA2	NM_000059.3(BRCA2):c.9257-3175T>C	noncoding	Benign
13	32391627	C	T	C32391627T	BRCA2	NM_000059.3(BRCA2):c.9257-3062C>T	noncoding	Benign
13	32391658	A	T	A32391658T	BRCA2	NM_000059.3(BRCA2):c.9257-3031A>T	noncoding	Benign
13	32391943	T	C	T32391943C	BRCA2	NM_000059.3(BRCA2):c.9257-2746T>C	noncoding	Benign
13	32393109	A	C	A32393109C	BRCA2	NM_000059.3(BRCA2):c.9257-1580A>C	noncoding	Benign
13	32393166	A	G	A32393166G	BRCA2	NM_000059.3(BRCA2):c.9257-1523A>G	noncoding	Benign
13	32393329	A	G	A32393329G	BRCA2	NM_000059.3(BRCA2):c.9257-1360A>G	noncoding	Benign
13	32393672	C	G	C32393672G	BRCA2	NM_000059.3(BRCA2):c.9257-1017C>G	noncoding	Benign
13	32393874	T	C	T32393874C	BRCA2	NM_000059.3(BRCA2):c.9257-815T>C	noncoding	Benign
13	32394146	G	A	G32394146A	BRCA2	NM_000059.3(BRCA2):c.9257-543G>A	noncoding	Benign
13	32394153	C	G	C32394153G	BRCA2	NM_000059.3(BRCA2):c.9257-536C>G	noncoding	Benign
13	32394172	A	G	A32394172G	BRCA2	NM_000059.3(BRCA2):c.9257-517A>G	noncoding	Benign
13	32394312	T	A	T32394312A	BRCA2	NM_000059.3(BRCA2):c.9257-377T>A	noncoding	Benign
13	32394413	G	A	G32394413A	BRCA2	NM_000059.3(BRCA2):c.9257-276G>A	noncoding	Benign
13	32394448	A	T	A32394448T	BRCA2	NM_000059.3(BRCA2):c.9257-241A>T	noncoding	Benign
13	32394454	G	A	G32394454A	BRCA2	NM_000059.3(BRCA2):c.9257-235G>A	noncoding	Benign
13	32394470	A	G	A32394470G	BRCA2	NM_000059.3(BRCA2):c.9257-219A>G	noncoding	Benign
13	32394546	T	A	T32394546A	BRCA2	NM_000059.3(BRCA2):c.9257-143T>A	noncoding	Benign
13	32394576	T	G	T32394576G	BRCA2	NM_000059.3(BRCA2):c.9257-113T>G	noncoding	Benign
13	32394606	G	A	G32394606A	BRCA2	NM_000059.3(BRCA2):c.9257-83G>A	noncoding	Benign
13	32394673	T	C	T32394673C	BRCA2	NM_000059.4(BRCA2):c.9257-16T>C	noncoding	Benign
13	32394674	T	C	T32394674C	BRCA2	NM_000059.4(BRCA2):c.9257-15T>C	noncoding	Benign/Likely_benign
13	32394687	A	G	A32394687G	BRCA2	NM_000059.3(BRCA2):c.9257-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	32394688	G	C	G32394688C	BRCA2	NM_000059.3(BRCA2):c.9257-1G>C	noncoding	Pathogenic
13	32394708	T	G	T32394708G	BRCA2	NM_000059.3(BRCA2):c.9276T>G:p.Tyr3092Ter	coding	Pathogenic
13	32394713	C	G	C32394713G	BRCA2	NM_000059.4(BRCA2):c.9281C>G:p.Ser3094Ter	coding	Pathogenic
13	32394717	C	A	C32394717A	BRCA2	NM_000059.3(BRCA2):c.9285C>A:p.Asp3095Glu	coding	Pathogenic
13	32394717	C	G	C32394717G	BRCA2	NM_000059.4(BRCA2):c.9285C>G:p.Asp3095Glu	coding	Pathogenic/Likely_pathogenic
13	32394718	G	T	G32394718T	BRCA2	NM_000059.3(BRCA2):c.9286G>T:p.Glu3096Ter	coding	Pathogenic
13	32394723	T	A	T32394723A	BRCA2	NM_000059.3(BRCA2):c.9291T>A:p.Cys3097Ter	coding	Pathogenic
13	32394724	T	C	T32394724C	BRCA2	NM_000059.4(BRCA2):c.9292T>C:p.Tyr3098His	coding	Benign
13	32394726	C	A	C32394726A	BRCA2	NM_000059.4(BRCA2):c.9294C>A:p.Tyr3098Ter	coding	Pathogenic
13	32394726	C	G	C32394726G	BRCA2	NM_000059.4(BRCA2):c.9294C>G:p.Tyr3098Ter	coding	Pathogenic
13	32394742	A	T	A32394742T	BRCA2	NM_000059.3(BRCA2):c.9310A>T:p.Lys3104Ter	coding	Pathogenic
13	32394749	G	A	G32394749A	BRCA2	NM_000059.4(BRCA2):c.9317G>A:p.Trp3106Ter	coding	Pathogenic
13	32394750	G	A	G32394750A	BRCA2	NM_000059.3(BRCA2):c.9318G>A:p.Trp3106Ter	coding	Pathogenic
13	32394763	G	T	G32394763T	BRCA2	NM_000059.3(BRCA2):c.9331G>T:p.Glu3111Ter	coding	Pathogenic
13	32394788	T	A	T32394788A	BRCA2	NM_000059.3(BRCA2):c.9356T>A:p.Leu3119Ter	coding	Pathogenic
13	32394788	T	G	T32394788G	BRCA2	NM_000059.3(BRCA2):c.9356T>G:p.Leu3119Ter	coding	Pathogenic
13	32394803	A	T	A32394803T	BRCA2	NM_000059.4(BRCA2):c.9371A>T:p.Asn3124Ile	coding	Pathogenic
13	32394808	C	T	C32394808T	BRCA2	NM_000059.3(BRCA2):c.9376C>T:p.Gln3126Ter	coding	Pathogenic
13	32394812	G	A	G32394812A	BRCA2	NM_000059.3(BRCA2):c.9380G>A:p.Trp3127Ter	coding	Pathogenic
13	32394813	G	A	G32394813A	BRCA2	NM_000059.3(BRCA2):c.9381G>A:p.Trp3127Ter	coding	Pathogenic
13	32394814	C	T	C32394814T	BRCA2	NM_000059.4(BRCA2):c.9382C>T:p.Arg3128Ter	coding	Pathogenic
13	32394843	T	G	T32394843G	BRCA2	NM_000059.3(BRCA2):c.9411T>G:p.Thr3137=	coding	Benign
13	32394845	T	G	T32394845G	BRCA2	NM_000059.3(BRCA2):c.9413T>G:p.Leu3138Ter	coding	Pathogenic
13	32394886	G	T	G32394886T	BRCA2	NM_000059.3(BRCA2):c.9454G>T:p.Glu3152Ter	coding	Pathogenic
13	32394898	C	T	C32394898T	BRCA2	NM_000059.3(BRCA2):c.9466C>T:p.Gln3156Ter	coding	Pathogenic
13	32394913	A	T	A32394913T	BRCA2	NM_000059.4(BRCA2):c.9481A>T:p.Lys3161Ter	coding	Pathogenic
13	32394933	G	A	G32394933A	BRCA2	NM_000059.3(BRCA2):c.9501G>A:p.Glu3167=	coding	Pathogenic
13	32394934	G	A	G32394934A	BRCA2	NM_000059.3(BRCA2):c.9501+1G>A	coding	Pathogenic/Likely_pathogenic
13	32394934	G	T	G32394934T	BRCA2	NM_000059.3(BRCA2):c.9501+1G>T	coding	Pathogenic/Likely_pathogenic
13	32394936	A	T	A32394936T	BRCA2	NM_000059.4(BRCA2):c.9501+3A>T	noncoding	Benign
13	32394942	A	C	A32394942C	BRCA2	NM_000059.3(BRCA2):c.9501+9A>C	noncoding	Benign
13	32395111	A	G	A32395111G	BRCA2	NM_000059.3(BRCA2):c.9501+178A>G	noncoding	Benign
13	32395894	T	C	T32395894C	BRCA2	NM_000059.3(BRCA2):c.9501+961T>C	noncoding	Benign
13	32395918	T	G	T32395918G	BRCA2	NM_000059.3(BRCA2):c.9502-980T>G	noncoding	Benign
13	32396296	G	A	G32396296A	BRCA2	NM_000059.3(BRCA2):c.9502-602G>A	noncoding	Benign
13	32396449	A	G	A32396449G	BRCA2	NM_000059.3(BRCA2):c.9502-449A>G	noncoding	Benign
13	32396462	A	G	A32396462G	BRCA2	NM_000059.3(BRCA2):c.9502-436A>G	noncoding	Benign
13	32396599	G	C	G32396599C	BRCA2	NM_000059.3(BRCA2):c.9502-299G>C	noncoding	Benign
13	32396886	T	C	T32396886C	BRCA2	NM_000059.3(BRCA2):c.9502-12T>C	noncoding	Benign/Likely_benign
13	32396886	T	G	T32396886G	BRCA2	NM_000059.4(BRCA2):c.9502-12T>G	noncoding	Benign
13	32396896	A	C	A32396896C	BRCA2	NM_000059.3(BRCA2):c.9502-2A>C	noncoding	Pathogenic/Likely_pathogenic
13	32396905	A	G	A32396905G	BRCA2	NM_000059.3(BRCA2):c.9509A>G:p.Asp3170Gly	coding	Benign
13	32396919	G	T	G32396919T	BRCA2	NM_000059.4(BRCA2):c.9523G>T:p.Glu3175Ter	coding	Pathogenic
13	32396968	G	A	G32396968A	BRCA2	NM_000059.4(BRCA2):c.9572G>A:p.Trp3191Ter	coding	Pathogenic
13	32396969	G	A	G32396969A	BRCA2	NM_000059.3(BRCA2):c.9573G>A:p.Trp3191Ter	coding	Pathogenic
13	32396988	T	C	T32396988C	BRCA2	NM_000059.3(BRCA2):c.9592T>C:p.Cys3198Arg	coding	Benign
13	32396995	C	G	C32396995G	BRCA2	NM_000059.4(BRCA2):c.9599C>G:p.Ser3200Ter	coding	Pathogenic
13	32397030	G	C	G32397030C	BRCA2	NM_000059.3(BRCA2):c.9634G>C:p.Gly3212Arg	coding	Benign/Likely_benign
13	32397045	G	C	G32397045C	BRCA2	NM_000059.3(BRCA2):c.9648+1G>C	coding	Pathogenic/Likely_pathogenic
13	32397128	G	A	G32397128A	BRCA2	NM_000059.3(BRCA2):c.9648+84G>A	noncoding	Benign/Likely_benign
13	32397171	G	A	G32397171A	BRCA2	NM_000059.4(BRCA2):c.9648+127G>A	noncoding	Benign
13	32397288	T	C	T32397288C	BRCA2	NM_000059.3(BRCA2):c.9648+244T>C	noncoding	Benign
13	32397453	A	G	A32397453G	BRCA2	NM_000059.3(BRCA2):c.9648+409A>G	noncoding	Benign
13	32397919	T	G	T32397919G	BRCA2	NM_000059.3(BRCA2):c.9649-243T>G	noncoding	Benign
13	32398004	A	G	A32398004G	BRCA2	NM_000059.3(BRCA2):c.9649-158A>G	noncoding	Benign
13	32398142	C	T	C32398142T	BRCA2	NM_000059.4(BRCA2):c.9649-20C>T	noncoding	Benign
13	32398143	G	A	G32398143A	BRCA2	NM_000059.3(BRCA2):c.9649-19G>A	noncoding	Benign
13	32398160	A	G	A32398160G	BRCA2	NM_000059.3(BRCA2):c.9649-2A>G	noncoding	Pathogenic
13	32398161	G	T	G32398161T	BRCA2	NM_000059.3(BRCA2):c.9649-1G>T	noncoding	Pathogenic
13	32398180	G	T	G32398180T	BRCA2	NM_000059.3(BRCA2):c.9667G>T:p.Glu3223Ter	coding	Pathogenic
13	32398191	T	A	T32398191A	BRCA2	NM_000059.4(BRCA2):c.9678T>A:p.Tyr3226Ter	coding	Pathogenic
13	32398205	C	A	C32398205A	BRCA2	NM_000059.4(BRCA2):c.9692C>A:p.Ser3231Ter	coding	Pathogenic
13	32398219	A	T	A32398219T	BRCA2	NM_000059.3(BRCA2):c.9706A>T:p.Lys3236Ter	coding	Pathogenic
13	32398243	G	A	G32398243A	BRCA2	NM_000059.4(BRCA2):c.9730G>A:p.Val3244Ile	coding	Benign
13	32398251	C	T	C32398251T	BRCA2	NM_000059.3(BRCA2):c.9738C>T:p.Ala3246=	coding	Benign
13	32398252	C	T	C32398252T	BRCA2	NM_000059.3(BRCA2):c.9739C>T:p.Gln3247Ter	coding	Pathogenic
13	32398349	T	A	T32398349A	BRCA2	NM_000059.3(BRCA2):c.9836T>A:p.Leu3279Ter	coding	Pathogenic
13	32398356	A	G	A32398356G	BRCA2	NM_000059.3(BRCA2):c.9843A>G:p.Pro3281=	coding	Benign
13	32398388	C	T	C32398388T	BRCA2	NM_000059.4(BRCA2):c.9875C>T:p.Pro3292Leu	coding	Benign
13	32398396	C	T	C32398396T	BRCA2	NM_000059.4(BRCA2):c.9883C>T:p.Gln3295Ter	coding	Pathogenic
13	32398408	C	T	C32398408T	BRCA2	NM_000059.3(BRCA2):c.9895C>T:p.Gln3299Ter	coding	Pathogenic
13	32398432	A	T	A32398432T	BRCA2	NM_000059.3(BRCA2):c.9919A>T:p.Lys3307Ter	coding	Pathogenic
13	32398437	C	A	C32398437A	BRCA2	NM_000059.3(BRCA2):c.9924C>A:p.Tyr3308Ter	coding	Pathogenic
13	32398437	C	G	C32398437G	BRCA2	NM_000059.4(BRCA2):c.9924C>G:p.Tyr3308Ter	coding	Pathogenic
13	32398437	C	T	C32398437T	BRCA2	NM_000059.3(BRCA2):c.9924C>T:p.Tyr3308=	coding	Benign
13	32398489	A	T	A32398489T	BRCA2	NM_000059.4(BRCA2):c.9976A>T:p.Lys3326Ter	coding	Benign
13	32398558	A	G	A32398558G	BRCA2	NM_000059.4(BRCA2):c.10045A>G:p.Thr3349Ala	coding	Benign
13	32398608	C	T	C32398608T	BRCA2	NM_000059.3(BRCA2):c.10095C>T:p.Val3365=	coding	Benign
13	32398623	G	A	G32398623A	BRCA2	NM_000059.4(BRCA2):c.10110G>A:p.Arg3370=	coding	Benign
13	32398634	C	T	C32398634T	BRCA2	NM_000059.4(BRCA2):c.10121C>T:p.Thr3374Ile	coding	Benign
13	32398666	C	T	C32398666T	BRCA2	NM_000059.3(BRCA2):c.10153C>T:p.Arg3385Cys	coding	Benign/Likely_benign
13	32398747	A	G	A32398747G	BRCA2	NM_000059.4(BRCA2):c.10234A>G:p.Ile3412Val	coding	Benign
13	32398784	C	T	C32398784T	BRCA2	NM_000059.3(BRCA2):c.*14C>T	noncoding	Benign/Likely_benign
13	32398875	A	C	A32398875C	BRCA2	NM_000059.3(BRCA2):c.*105A>C	noncoding	Benign
13	32399065	C	G	C32399065G	BRCA2	NM_000059.3(BRCA2):c.*295C>G	noncoding	Benign
13	32399139	A	G	A32399139G	BRCA2	NM_000059.3(BRCA2):c.*369A>G	noncoding	Benign
13	32399160	A	G	A32399160G	BRCA2	NM_000059.3(BRCA2):c.*390A>G	noncoding	Benign
13	32399167	C	A	C32399167A	BRCA2	NM_000059.3(BRCA2):c.*397C>A	noncoding	Benign
13	32399302	A	G	A32399302G	BRCA2	NM_000059.3(BRCA2):c.*532A>G	noncoding	Benign
13	32399611	A	G	A32399611G	BRCA2	NM_000059.3(BRCA2):c.*841A>G	noncoding	Benign
13	32399612	A	G	A32399612G	BRCA2	NM_000059.3(BRCA2):c.*842A>G	noncoding	Benign
13	32399625	C	A	C32399625A	BRCA2	NM_000059.3(BRCA2):c.*855C>A	noncoding	Benign
13	32675849	T	C	T32675849C	PDS5B	NM_015032.4(PDS5B):c.852T>C:p.Asn284=	coding	Benign
13	32688511	A	G	A32688511G	PDS5B	NM_015032.4(PDS5B):c.1411A>G:p.Thr471Ala	coding	Benign
13	32764576	C	T	C32764576T	PDS5B	NM_015032.4(PDS5B):c.3606C>T:p.Asp1202=	coding	Benign
13	33016527	C	T	C33016527T	KL	NM_004795.4(KL):c.87C>T:p.Arg29=	coding	Benign
13	33016531	C	T	C33016531T	KL	NM_004795.4(KL):c.91C>T:p.Leu31=	coding	Benign
13	33016580	G	A	G33016580A	KL	NM_004795.4(KL):c.140G>A:p.Arg47Gln	coding	Benign
13	33016713	T	C	T33016713C	KL	NM_004795.4(KL):c.273T>C:p.Asp91=	coding	Benign
13	33016760	C	T	C33016760T	KL	NM_004795.4(KL):c.320C>T:p.Ala107Val	coding	Benign
13	33016766	T	G	T33016766G	KL	NM_004795.4(KL):c.326T>G:p.Leu109Arg	coding	Benign
13	33016767	G	C	G33016767C	KL	NM_004795.4(KL):c.327G>C:p.Leu109=	coding	Benign
13	33016833	C	A	C33016833A	KL	NM_004795.4(KL):c.393C>A:p.Asn131Lys	coding	Benign
13	33017047	G	T	G33017047T	KL	NM_004795.4(KL):c.607G>T:p.Ala203Ser	coding	Benign
13	33054001	T	G	T33054001G	KL	NM_004795.4(KL):c.1054T>G:p.Phe352Val	coding	Benign
13	33054056	G	C	G33054056C	KL	NM_004795.4(KL):c.1109G>C:p.Cys370Ser	coding	Benign
13	33054102	G	A	G33054102A	KL	NM_004795.4(KL):c.1155G>A:p.Lys385=	coding	Benign
13	33055123	T	C	T33055123C	KL	NM_004795.4(KL):c.1407T>C:p.Gly469=	coding	Benign
13	33055256	C	T	C33055256T	KL	NM_004795.4(KL):c.1540C>T:p.Pro514Ser	coding	Benign
13	33055309	C	T	C33055309T	KL	NM_004795.4(KL):c.1593C>T:p.Tyr531=	coding	Benign/Likely_benign
13	33060846	C	T	C33060846T	KL	NM_004795.4(KL):c.1767C>T:p.His589=	coding	Benign
13	33061326	T	C	T33061326C	KL	NM_004795.4(KL):c.2247T>C:p.Ala749=	coding	Benign
13	33061698	T	C	T33061698C	KL	NM_004795.4(KL):c.2619T>C:p.Asn873=	coding	Benign
13	33061767	C	T	C33061767T	KL	NM_004795.4(KL):c.2688C>T:p.Asn896=	coding	Benign
13	33064155	A	G	A33064155G	KL	NM_004795.4(KL):c.3008A>G:p.Tyr1003Cys	coding	Benign
13	33064729	G	A	G33064729A	KL	NM_004795.4(KL):c.*543G>A	noncoding	Benign
13	33065472	A	G	A33065472G	KL	NM_004795.4(KL):c.*1286A>G	noncoding	Benign
13	33065805	T	C	T33065805C	KL	NM_004795.4(KL):c.*1619T>C	noncoding	Benign
13	33106808	C	T	C33106808T	STARD13	NM_178006.4(STARD13):c.3174G>A:p.Pro1058=	coding	Benign
13	33110031	G	A	G33110031A	STARD13	NM_178006.4(STARD13):c.2889C>T:p.Pro963=	coding	Benign
13	33110725	C	T	C33110725T	STARD13	NM_178006.4(STARD13):c.2790G>A:p.Thr930=	coding	Benign
13	33112903	G	A	G33112903A	STARD13	NM_178006.4(STARD13):c.2310C>T:p.Ala770=	coding	Benign
13	33129402	A	G	A33129402G	STARD13	NM_178006.4(STARD13):c.1275T>C:p.Asn425=	coding	Benign
13	33129561	C	A	C33129561A	STARD13	NM_178006.4(STARD13):c.1116G>T:p.Gly372=	coding	Benign
13	33129615	G	A	G33129615A	STARD13	NM_178006.4(STARD13):c.1062C>T:p.His354=	coding	Benign
13	33130182	T	A	T33130182A	STARD13	NM_178006.4(STARD13):c.495A>T:p.Arg165=	coding	Benign
13	33130209	C	T	C33130209T	STARD13	NM_178006.4(STARD13):c.468G>A:p.Val156=	coding	Benign
13	33167555	A	G	A33167555G	STARD13	NM_178006.4(STARD13):c.237T>C:p.Tyr79=	coding	Benign
13	34943102	G	A	G34943102A	NBEA	NM_015678.4(NBEA):c.282G>A:p.Thr94=	coding	Benign
13	35161783	C	T	C35161783T	NBEA	NM_001385012.1(NBEA):c.3895C>T:p.Arg1299Ter	coding	Pathogenic
13	35177104	G	C	G35177104C	NBEA	NM_015678.5(NBEA):c.4662+1G>C	coding	Pathogenic
13	35196017	G	A	G35196017A	NBEA	NM_015678.4(NBEA):c.5081G>A:p.Ser1694Asn	coding	Benign
13	35196267	A	C	A35196267C	NBEA	NM_015678.4(NBEA):c.5331A>C:p.Gln1777His	coding	Benign
13	35196268	G	A	G35196268A	NBEA	NM_015678.4(NBEA):c.5332G>A:p.Ala1778Thr	coding	Benign
13	35349144	T	C	T35349144C	NBEA	NM_015678.4(NBEA):c.5940T>C:p.Arg1980=	coding	Benign
13	35349189	G	A	G35349189A	NBEA	NM_015678.4(NBEA):c.5985G>A:p.Glu1995=	coding	Benign
13	35475299	G	C	G35475299C	MAB21L1	NM_005584.5(MAB21L1):c.840C>G:p.Tyr280Ter	coding	Pathogenic
13	35475441	T	G	T35475441G	MAB21L1	NM_005584.5(MAB21L1):c.698A>C:p.Gln233Pro	coding	Pathogenic
13	35567011	A	C	A35567011C	NBEA	NM_015678.4(NBEA):c.7029A>C:p.Leu2343=	coding	Benign
13	35583901	A	G	A35583901G	NBEA	NM_015678.4(NBEA):c.7039A>G:p.Ile2347Val	coding	Benign
13	35593400	G	A	G35593400A	NBEA	NM_015678.4(NBEA):c.7249G>A:p.Val2417Ile	coding	Benign
13	35646324	G	A	G35646324A	NBEA	NM_015678.4(NBEA):c.7683G>A:p.Pro2561=	coding	Benign
13	35649646	A	G	A35649646G	NBEA	NM_015678.4(NBEA):c.7708-9A>G	noncoding	Benign
13	35649738	T	C	T35649738C	NBEA	NM_015678.4(NBEA):c.7791T>C:p.Ser2597=	coding	Benign
13	35665194	G	C	G35665194C	NBEA	NM_015678.4(NBEA):c.8401+8G>C	noncoding	Benign
13	35667568	C	T	C35667568T	NBEA	NM_015678.5(NBEA):c.8596C>T:p.Arg2866Trp	coding	Pathogenic
13	35668360	T	C	T35668360C	NBEA	NM_015678.4(NBEA):c.8599-8T>C	noncoding	Benign
13	35822777	C	T	C35822777T	DCLK1	NM_001330071.2(DCLK1):c.1506G>A:p.Leu502=	coding	Benign
13	35822831	G	A	G35822831A	DCLK1	NM_001330071.2(DCLK1):c.1452C>T:p.Thr484=	coding	Benign
13	36302242	A	G	A36302242G	SPART	NM_015087.5(SPART):c.*2123T>C	noncoding	Benign
13	36303456	T	C	T36303456C	SPART	NM_015087.5(SPART):c.*909A>G	noncoding	Benign
13	36303741	T	C	T36303741C	SPART	NM_015087.5(SPART):c.*624A>G	noncoding	Benign
13	36312332	T	C	T36312332C	SPART	NM_015087.5(SPART):c.1629A>G:p.Ala543=	coding	Benign
13	36314341	G	A	G36314341A	SPART	NM_015087.5(SPART):c.1369C>T:p.Arg457Ter	coding	Pathogenic
13	36329396	T	A	T36329396A	SPART	NM_015087.5(SPART):c.1130A>T:p.Lys377Met	coding	Benign/Likely_benign
13	36335146	G	A	G36335146A	SPART	NM_015087.5(SPART):c.685C>T:p.Gln229Ter	coding	Pathogenic
13	36335443	G	A	G36335443A	SPART	NM_015087.5(SPART):c.388C>T:p.Gln130Ter	coding	Pathogenic
13	36437652	T	C	T36437652C	CCNA1	NM_003914.4(CCNA1):c.321T>C:p.Tyr107=	coding	Benign
13	36437880	C	A	C36437880A	CCNA1	NM_003914.4(CCNA1):c.544+5C>A	noncoding	Benign
13	36438694	G	A	G36438694A	CCNA1	NM_003914.4(CCNA1):c.720G>A:p.Thr240=	coding	Benign
13	36441177	G	A	G36441177A	CCNA1	NM_003914.4(CCNA1):c.1158G>A:p.Leu386=	coding	Benign
13	36819381	G	A	G36819381A	RFXAP	NM_000538.3(RFXAP):c.24G>A:p.Glu8=	coding	Benign
13	36819484	C	T	C36819484T	RFXAP	NM_000538.3(RFXAP):c.127C>T:p.Gln43Ter	coding	Pathogenic
13	36819520	C	T	C36819520T	RFXAP	NM_000538.3(RFXAP):c.163C>T:p.Gln55Ter	coding	Pathogenic
13	36819680	T	A	T36819680A	RFXAP	NM_000538.3(RFXAP):c.323T>A:p.Leu108Ter	coding	Pathogenic
13	36819767	T	C	T36819767C	RFXAP	NM_000538.3(RFXAP):c.410T>C:p.Met137Thr	coding	Benign
13	36819787	G	A	G36819787A	RFXAP	NM_000538.3(RFXAP):c.430G>A:p.Glu144Lys	coding	Benign/Likely_benign
13	36827690	A	G	A36827690G	RFXAP	NM_000538.3(RFXAP):c.756A>G:p.Gln252=	coding	Benign/Likely_benign
13	36827808	A	G	A36827808G	RFXAP	NM_000538.3(RFXAP):c.*55A>G	noncoding	Benign
13	36828225	C	T	C36828225T	RFXAP	NM_000538.3(RFXAP):c.*472C>T	noncoding	Benign
13	36828472	C	T	C36828472T	RFXAP	NM_000538.4(RFXAP):c.*719C>T	noncoding	Benign
13	36828845	A	G	A36828845G	RFXAP	NM_000538.3(RFXAP):c.*1092A>G	noncoding	Benign
13	36829006	G	A	G36829006A	RFXAP	NM_000538.3(RFXAP):c.*1253G>A	noncoding	Benign
13	36848895	G	A	G36848895A	SMAD9	NM_001127217.2(SMAD9):c.1261-76C>T	noncoding	Benign
13	36853644	C	T	C36853644T	SMAD9	NM_001127217.2(SMAD9):c.1035G>A:p.Val345=	coding	Benign/Likely_benign
13	36865660	G	A	G36865660A	SMAD9	NM_001127217.2(SMAD9):c.880C>T:p.Arg294Ter	coding	Pathogenic
13	36865712	G	A	G36865712A	SMAD9	NM_001127217.2(SMAD9):c.828C>T:p.Val276=	coding	Benign
13	36865827	C	A	C36865827A	SMAD9	NM_001127217.2(SMAD9):c.782-69G>T	noncoding	Benign
13	36866009	T	C	T36866009C	SMAD9	NM_001127217.2(SMAD9):c.782-251A>G	noncoding	Benign
13	36867298	A	G	A36867298G	SMAD9	NM_001127217.3(SMAD9):c.756T>C:p.His252=	coding	Benign/Likely_benign
13	36867311	G	T	G36867311T	SMAD9	NM_001127217.2(SMAD9):c.743C>A:p.Thr248Lys	coding	Benign
13	36872722	G	T	G36872722T	SMAD9	NM_005905.6(SMAD9):c.606C>A:p.Cys202Ter	coding	Pathogenic
13	36879563	T	C	T36879563C	SMAD9	NM_005905.6(SMAD9):c.127A>G:p.Lys43Glu	coding	Pathogenic
13	36879678	G	A	G36879678A	SMAD9	NM_001127217.3(SMAD9):c.12C>T:p.Thr4=	coding	Benign
13	36879726	G	A	G36879726A	SMAD9	NM_001127217.2(SMAD9):c.-37C>T	noncoding	Benign
13	37000810	C	T	C37000810T	EXOSC8	NM_181503.3(EXOSC8):c.5C>T:p.Ala2Val	coding	Pathogenic
13	37002558	A	T	A37002558T	EXOSC8	NM_181503.3(EXOSC8):c.118+7A>T	noncoding	Benign
13	37005953	C	T	C37005953T	EXOSC8	NM_181503.3(EXOSC8):c.272C>T:p.Ser91Leu	coding	Benign
13	37006002	G	A	G37006002A	EXOSC8	NM_181503.3(EXOSC8):c.321G>A:p.Gln107=	coding	Benign
13	37007010	C	T	C37007010T	EXOSC8	NM_181503.3(EXOSC8):c.426C>T:p.Leu142=	coding	Benign
13	37007043	A	G	A37007043G	EXOSC8	NM_181503.3(EXOSC8):c.459A>G:p.Thr153=	coding	Benign
13	37569335	A	G	A37569335G	POSTN	NM_006475.3(POSTN):c.2396T>C:p.Phe799Ser	coding	Benign
13	37584822	G	A	G37584822A	POSTN	NM_006475.3(POSTN):c.1002C>T:p.Asp334=	coding	Benign
13	37590444	C	T	C37590444T	POSTN	NM_006475.3(POSTN):c.369G>A:p.Arg123=	coding	Benign
13	37592110	G	A	G37592110A	POSTN	NM_006475.3(POSTN):c.273C>T:p.Gly91=	coding	Benign
13	37636909	T	C	T37636909C	TRPC4	NM_016179.4(TRPC4):c.2928A>G:p.Arg976=	coding	Benign
13	37692234	A	G	A37692234G	TRPC4	NM_016179.4(TRPC4):c.999T>C:p.Cys333=	coding	Benign
13	38360761	C	T	C38360761T	UFM1	NM_016617.4(UFM1):c.241C>T:p.Arg81Cys	coding	Pathogenic
13	38687085	A	G	A38687085G	FREM2	NM_207361.6(FREM2):c.-260A>G	noncoding	Benign
13	38687428	C	G	C38687428G	FREM2	NM_207361.6(FREM2):c.84C>G:p.Pro28=	coding	Benign/Likely_benign
13	38687520	G	A	G38687520A	FREM2	NM_207361.6(FREM2):c.176G>A:p.Gly59Asp	coding	Benign
13	38687647	C	A	C38687647A	FREM2	NM_207361.6(FREM2):c.303C>A:p.Pro101=	coding	Benign
13	38687920	G	A	G38687920A	FREM2	NM_207361.6(FREM2):c.576G>A:p.Glu192=	coding	Benign
13	38688058	G	A	G38688058A	FREM2	NM_207361.6(FREM2):c.714G>A:p.Gln238=	coding	Benign
13	38688298	C	G	C38688298G	FREM2	NM_207361.6(FREM2):c.954C>G:p.Pro318=	coding	Benign
13	38688532	G	C	G38688532C	FREM2	NM_207361.6(FREM2):c.1188G>C:p.Gln396His	coding	Benign
13	38688862	C	T	C38688862T	FREM2	NM_207361.6(FREM2):c.1518C>T:p.Ser506=	coding	Benign
13	38688886	C	T	C38688886T	FREM2	NM_207361.6(FREM2):c.1542C>T:p.Ala514=	coding	Benign
13	38689274	C	T	C38689274T	FREM2	NM_207361.6(FREM2):c.1930C>T:p.Gln644Ter	coding	Pathogenic
13	38689285	C	T	C38689285T	FREM2	NM_207361.6(FREM2):c.1941C>T:p.Asp647=	coding	Benign
13	38689477	G	A	G38689477A	FREM2	NM_207361.6(FREM2):c.2133G>A:p.Met711Ile	coding	Benign/Likely_benign
13	38689509	G	A	G38689509A	FREM2	NM_207361.6(FREM2):c.2165G>A:p.Arg722Lys	coding	Benign
13	38689524	G	A	G38689524A	FREM2	NM_207361.6(FREM2):c.2180G>A:p.Arg727His	coding	Benign/Likely_benign
13	38689550	C	T	C38689550T	FREM2	NM_207361.6(FREM2):c.2206C>T:p.Arg736Ter	coding	Pathogenic
13	38689594	C	T	C38689594T	FREM2	NM_207361.6(FREM2):c.2250C>T:p.Asp750=	coding	Benign
13	38689652	G	A	G38689652A	FREM2	NM_207361.6(FREM2):c.2308G>A:p.Val770Met	coding	Benign
13	38689944	C	T	C38689944T	FREM2	NM_207361.6(FREM2):c.2600C>T:p.Thr867Ile	coding	Benign
13	38689946	C	G	C38689946G	FREM2	NM_207361.6(FREM2):c.2602C>G:p.Leu868Val	coding	Benign
13	38690322	A	G	A38690322G	FREM2	NM_207361.6(FREM2):c.2978A>G:p.Glu993Gly	coding	Benign
13	38690460	T	A	T38690460A	FREM2	NM_207361.6(FREM2):c.3116T>A:p.Met1039Lys	coding	Benign
13	38690553	T	C	T38690553C	FREM2	NM_207361.6(FREM2):c.3209T>C:p.Phe1070Ser	coding	Benign
13	38691097	C	T	C38691097T	FREM2	NM_207361.6(FREM2):c.3753C>T:p.Ser1251=	coding	Benign
13	38691323	T	A	T38691323A	FREM2	NM_207361.6(FREM2):c.3979T>A:p.Leu1327Ile	coding	Benign
13	38691375	G	A	G38691375A	FREM2	NM_207361.6(FREM2):c.4031G>A:p.Arg1344His	coding	Benign/Likely_benign
13	38691407	C	T	C38691407T	FREM2	NM_207361.6(FREM2):c.4063C>T:p.Arg1355Ter	coding	Pathogenic
13	38691421	T	A	T38691421A	FREM2	NM_207361.6(FREM2):c.4077T>A:p.Gly1359=	coding	Benign
13	38691663	C	A	C38691663A	FREM2	NM_207361.6(FREM2):c.4319C>A:p.Thr1440Lys	coding	Benign/Likely_benign
13	38692030	T	C	T38692030C	FREM2	NM_207361.6(FREM2):c.4686T>C:p.Asp1562=	coding	Benign
13	38692070	C	G	C38692070G	FREM2	NM_207361.6(FREM2):c.4726C>G:p.Pro1576Ala	coding	Benign
13	38692074	T	C	T38692074C	FREM2	NM_207361.6(FREM2):c.4730T>C:p.Ile1577Thr	coding	Benign
13	38692245	C	T	C38692245T	FREM2	NM_207361.6(FREM2):c.4901C>T:p.Thr1634Met	coding	Benign
13	38692260	G	A	G38692260A	FREM2	NM_207361.6(FREM2):c.4916G>A:p.Arg1639Lys	coding	Benign
13	38692347	G	A	G38692347A	FREM2	NM_207361.6(FREM2):c.5003G>A:p.Arg1668His	coding	Benign
13	38692453	C	T	C38692453T	FREM2	NM_207361.6(FREM2):c.5109C>T:p.Ala1703=	coding	Benign/Likely_benign
13	38764349	G	A	G38764349A	FREM2	NM_207361.6(FREM2):c.5309G>A:p.Trp1770Ter	coding	Pathogenic
13	38764394	A	C	A38764394C	FREM2	NM_207361.6(FREM2):c.5354A>C:p.Lys1785Thr	coding	Benign
13	38769685	C	T	C38769685T	FREM2	NM_207361.6(FREM2):c.5518C>T:p.Arg1840Trp	coding	Benign
13	38769711	G	A	G38769711A	FREM2	NM_207361.6(FREM2):c.5544G>A:p.Glu1848=	coding	Benign
13	38784709	G	A	G38784709A	FREM2	NM_207361.6(FREM2):c.5920G>A:p.Glu1974Lys	coding	Pathogenic
13	38846589	C	T	C38846589T	FREM2	NM_207361.6(FREM2):c.6036C>T:p.Phe2012=	coding	Benign
13	38848487	C	T	C38848487T	FREM2	NM_207361.6(FREM2):c.6196C>T:p.Arg2066Cys	coding	Benign
13	38848621	T	G	T38848621G	FREM2	NM_207361.6(FREM2):c.6330T>G:p.Leu2110=	coding	Benign
13	38848630	C	T	C38848630T	FREM2	NM_207361.6(FREM2):c.6339C>T:p.Pro2113=	coding	Benign
13	38850054	C	T	C38850054T	FREM2	NM_207361.6(FREM2):c.6396C>T:p.Phe2132=	coding	Benign
13	38850116	C	G	C38850116G	FREM2	NM_207361.6(FREM2):c.6458C>G:p.Thr2153Ser	coding	Benign
13	38850117	T	C	T38850117C	FREM2	NM_207361.6(FREM2):c.6459T>C:p.Thr2153=	coding	Benign
13	38850972	G	A	G38850972A	FREM2	NM_207361.6(FREM2):c.6606G>A:p.Glu2202=	coding	Benign
13	38851093	C	T	C38851093T	FREM2	NM_207361.6(FREM2):c.6727C>T:p.Arg2243Ter	coding	Pathogenic
13	38851769	G	A	G38851769A	FREM2	NM_207361.6(FREM2):c.6826G>A:p.Val2276Met	coding	Benign
13	38851875	G	T	G38851875T	FREM2	NM_207361.6(FREM2):c.6925+7G>T	noncoding	Benign
13	38856177	C	T	C38856177T	FREM2	NM_207361.6(FREM2):c.6977C>T:p.Thr2326Ile	coding	Benign
13	38856189	T	C	T38856189C	FREM2	NM_207361.6(FREM2):c.6989T>C:p.Val2330Ala	coding	Benign
13	38857886	C	T	C38857886T	FREM2	NM_207361.6(FREM2):c.7068C>T:p.Ala2356=	coding	Benign
13	38859406	T	C	T38859406C	FREM2	NM_207361.6(FREM2):c.7335T>C:p.Gly2445=	coding	Benign/Likely_benign
13	38859430	G	A	G38859430A	FREM2	NM_207361.6(FREM2):c.7359G>A:p.Val2453=	coding	Benign
13	38859469	A	G	A38859469G	FREM2	NM_207361.6(FREM2):c.7398A>G:p.Thr2466=	coding	Benign
13	38859591	G	A	G38859591A	FREM2	NM_207361.6(FREM2):c.7519+1G>A	coding	Pathogenic
13	38872732	G	A	G38872732A	FREM2	NM_207361.6(FREM2):c.7984-10G>A	noncoding	Benign
13	38874531	C	T	C38874531T	FREM2	NM_207361.6(FREM2):c.8226C>T:p.Ala2742=	coding	Benign
13	38876298	C	G	C38876298G	FREM2	NM_207361.6(FREM2):c.8460C>G:p.Ala2820=	coding	Benign/Likely_benign
13	38878856	C	T	C38878856T	FREM2	NM_207361.6(FREM2):c.8885C>T:p.Ala2962Val	coding	Benign
13	38878873	G	A	G38878873A	FREM2	NM_207361.6(FREM2):c.8902G>A:p.Val2968Ile	coding	Benign/Likely_benign
13	38880348	A	G	A38880348G	FREM2	NM_207361.6(FREM2):c.9071A>G:p.Asn3024Ser	coding	Benign/Likely_benign
13	38880461	G	T	G38880461T	FREM2	NM_207361.6(FREM2):c.9184G>T:p.Ala3062Ser	coding	Benign
13	38880543	A	G	A38880543G	FREM2	NM_207361.6(FREM2):c.9266A>G:p.His3089Arg	coding	Benign/Likely_benign
13	38880614	A	G	A38880614G	FREM2	NM_207361.6(FREM2):c.9337A>G:p.Thr3113Ala	coding	Benign/Likely_benign
13	38880634	G	C	G38880634C	FREM2	NM_207361.6(FREM2):c.9357G>C:p.Thr3119=	coding	Benign
13	38880706	G	A	G38880706A	FREM2	NM_207361.6(FREM2):c.9429G>A:p.Gly3143=	coding	Benign
13	38881129	G	A	G38881129A	FREM2	NM_207361.6(FREM2):c.*342G>A	noncoding	Benign
13	38881779	T	C	T38881779C	FREM2	NM_207361.6(FREM2):c.*992T>C	noncoding	Benign
13	38881828	C	T	C38881828T	FREM2	NM_207361.6(FREM2):c.*1041C>T	noncoding	Benign
13	38882166	T	C	T38882166C	FREM2	NM_207361.6(FREM2):c.*1379T>C	noncoding	Benign
13	38882215	A	G	A38882215G	FREM2	NM_207361.6(FREM2):c.*1428A>G	noncoding	Benign
13	38882254	G	A	G38882254A	FREM2	NM_207361.6(FREM2):c.*1467G>A	noncoding	Benign
13	38882411	G	A	G38882411A	FREM2	NM_207361.6(FREM2):c.*1624G>A	noncoding	Benign
13	38882481	A	G	A38882481G	FREM2	NM_207361.6(FREM2):c.*1694A>G	noncoding	Benign
13	38882927	C	G	C38882927G	FREM2	NM_207361.6(FREM2):c.*2140C>G	noncoding	Benign
13	38883162	C	G	C38883162G	FREM2	NM_207361.6(FREM2):c.*2375C>G	noncoding	Benign
13	38883713	G	A	G38883713A	FREM2	NM_207361.6(FREM2):c.*2926G>A	noncoding	Benign
13	38883979	T	C	T38883979C	FREM2	NM_207361.6(FREM2):c.*3192T>C	noncoding	Benign
13	38884268	G	A	G38884268A	FREM2	NM_207361.6(FREM2):c.*3481G>A	noncoding	Benign
13	38884716	G	T	G38884716T	FREM2	NM_207361.6(FREM2):c.*3929G>T	noncoding	Benign
13	38885036	A	C	A38885036C	FREM2	NM_207361.6(FREM2):c.*4249A>C	noncoding	Benign
13	38885252	C	T	C38885252T	FREM2	NM_207361.6(FREM2):c.*4465C>T	noncoding	Benign
13	38885347	G	A	G38885347A	FREM2	NM_207361.6(FREM2):c.*4560G>A	noncoding	Benign
13	38885557	C	T	C38885557T	FREM2	NM_207361.6(FREM2):c.*4770C>T	noncoding	Benign
13	38885806	A	T	A38885806T	FREM2	NM_207361.6(FREM2):c.*5019A>T	noncoding	Benign
13	38886122	A	G	A38886122G	FREM2	NM_207361.6(FREM2):c.*5335A>G	noncoding	Benign
13	38886131	T	G	T38886131G	FREM2	NM_207361.6(FREM2):c.*5344T>G	noncoding	Benign
13	38886278	G	A	G38886278A	FREM2	NM_207361.6(FREM2):c.*5491G>A	noncoding	Benign
13	39012713	A	T	A39012713T	PROSER1	NM_025138.5(PROSER1):c.2539T>A:p.Ser847Thr	coding	Benign
13	39012840	G	A	G39012840A	PROSER1	NM_025138.5(PROSER1):c.2412C>T:p.Pro804=	coding	Benign
13	39655727	A	G	A39655727G	COG6	NM_020751.3(COG6):c.1A>G:p.Met1Val	coding	Pathogenic
13	39655754	G	A	G39655754A	COG6	NM_020751.3(COG6):c.28G>A:p.Ala10Thr	coding	Benign
13	39655795	G	A	G39655795A	COG6	NM_020751.3(COG6):c.69G>A:p.Gly23=	coding	Benign/Likely_benign
13	39655820	T	A	T39655820A	COG6	NM_020751.3(COG6):c.94T>A:p.Cys32Ser	coding	Benign
13	39655838	A	T	A39655838T	COG6	NM_020751.3(COG6):c.112A>T:p.Lys38Ter	coding	Pathogenic
13	39665114	C	T	C39665114T	COG6	NM_020751.3(COG6):c.388C>T:p.Gln130Ter	coding	Pathogenic
13	39677550	C	T	C39677550T	COG6	NM_020751.3(COG6):c.511C>T:p.Arg171Ter	coding	Pathogenic
13	39682261	A	G	A39682261G	COG6	NM_020751.3(COG6):c.785A>G:p.Tyr262Cys	coding	Pathogenic
13	39687569	C	T	C39687569T	COG6	NM_020751.3(COG6):c.855C>T:p.Leu285=	coding	Benign/Likely_benign
13	39687612	C	T	C39687612T	COG6	NM_020751.3(COG6):c.898C>T:p.His300Tyr	coding	Benign/Likely_benign
13	39687808	A	G	A39687808G	COG6	NM_020751.3(COG6):c.1009+9A>G	noncoding	Benign
13	39689842	T	C	T39689842C	COG6	NM_020751.3(COG6):c.1074+18T>C	noncoding	Benign
13	39694633	G	T	G39694633T	COG6	NM_020751.3(COG6):c.1075-1G>T	noncoding	Pathogenic
13	39699477	A	G	A39699477G	COG6	NM_020751.3(COG6):c.1167-24A>G	noncoding	Pathogenic/Likely_pathogenic
13	39699514	A	G	A39699514G	COG6	NM_020751.3(COG6):c.1180A>G:p.Asn394Asp	coding	Benign/Likely_benign
13	39719259	T	G	T39719259G	COG6	NM_020751.3(COG6):c.1308T>G:p.Leu436=	coding	Benign/Likely_benign
13	39719291	T	C	T39719291C	COG6	NM_020751.3(COG6):c.1340T>C:p.Met447Thr	coding	Benign
13	39719778	T	G	T39719778G	COG6	NM_020751.3(COG6):c.1535T>G:p.Leu512Ter	coding	Pathogenic/Likely_pathogenic
13	39723394	G	T	G39723394T	COG6	NM_020751.3(COG6):c.1646G>T:p.Gly549Val	coding	Pathogenic
13	39724502	A	T	A39724502T	COG6	NM_020751.3(COG6):c.1693-6A>T	noncoding	Benign/Likely_benign
13	39751082	C	A	C39751082A	COG6	NM_020751.3(COG6):c.1963C>A:p.Leu655Ile	coding	Benign
13	39751173	C	T	C39751173T	COG6	NM_020751.3(COG6):c.*80C>T	coding	Benign
13	39752145	A	G	A39752145G	COG6	NM_020751.3(COG6):c.*1052A>G	coding	Benign
13	39752186	G	T	G39752186T	COG6	NM_020751.3(COG6):c.*1093G>T	coding	Benign
13	40559985	C	T	C40559985T	FOXO1	NM_002015.4(FOXO1):c.1506G>A:p.Ser502=	coding	Benign
13	40560492	G	A	G40560492A	FOXO1	NM_002015.4(FOXO1):c.999C>T:p.Thr333=	coding	Benign
13	40560570	A	G	A40560570G	FOXO1	NM_002015.4(FOXO1):c.921T>C:p.Phe307=	coding	Benign
13	40789459	T	C	T40789459C	SLC25A15	NM_014252.3(SLC25A15):c.-274T>C	noncoding	Benign
13	40793248	C	T	C40793248T	SLC25A15	NM_014252.4(SLC25A15):c.22C>T:p.Gln8Ter	coding	Pathogenic
13	40798808	C	T	C40798808T	SLC25A15	NM_014252.4(SLC25A15):c.56-249C>T	coding	Benign
13	40799080	G	A	G40799080A	SLC25A15	NM_014252.4(SLC25A15):c.79G>A:p.Gly27Arg	coding	Pathogenic
13	40799096	C	G	C40799096G	SLC25A15	NM_014252.4(SLC25A15):c.95C>G:p.Thr32Arg	coding	Pathogenic
13	40799111	T	G	T40799111G	SLC25A15	NM_014252.4(SLC25A15):c.110T>G:p.Met37Arg	coding	Pathogenic
13	40799118	G	A	G40799118A	SLC25A15	NM_014252.4(SLC25A15):c.117G>A:p.Thr39=	coding	Benign
13	40799213	T	A	T40799213A	SLC25A15	NM_014252.4(SLC25A15):c.212T>A:p.Leu71Gln	coding	Pathogenic
13	40805136	C	T	C40805136T	SLC25A15	NM_014252.4(SLC25A15):c.333C>T:p.Ala111=	coding	Benign
13	40805414	A	G	A40805414G	SLC25A15	NM_014252.4(SLC25A15):c.452+159A>G	noncoding	Benign
13	40807355	G	T	G40807355T	SLC25A15	NM_014252.4(SLC25A15):c.514G>T:p.Gly172Ter	coding	Pathogenic
13	40807362	C	A	C40807362A	SLC25A15	NM_014252.4(SLC25A15):c.521C>A:p.Ser174Ter	coding	Pathogenic
13	40807376	C	T	C40807376T	SLC25A15	NM_014252.4(SLC25A15):c.535C>T:p.Arg179Ter	coding	Pathogenic
13	40807379	G	A	G40807379A	SLC25A15	NM_014252.4(SLC25A15):c.538G>A:p.Glu180Lys	coding	Pathogenic
13	40807405	C	G	C40807405G	SLC25A15	NM_014252.4(SLC25A15):c.564C>G:p.Phe188Leu	coding	Pathogenic/Likely_pathogenic
13	40807410	G	A	G40807410A	SLC25A15	NM_014252.4(SLC25A15):c.569G>A:p.Gly190Asp	coding	Pathogenic
13	40808421	A	G	A40808421G	SLC25A15	NM_014252.4(SLC25A15):c.623-17A>G	noncoding	Benign
13	40808473	G	A	G40808473A	SLC25A15	NM_014252.4(SLC25A15):c.658G>A:p.Gly220Arg	coding	Pathogenic
13	40808575	A	T	A40808575T	SLC25A15	NM_014252.4(SLC25A15):c.760A>T:p.Ile254Leu	coding	Benign
13	40808593	G	T	G40808593T	SLC25A15	NM_014252.4(SLC25A15):c.778G>T:p.Glu260Ter	coding	Pathogenic
13	40809379	A	G	A40809379G	SLC25A15	NM_014252.4(SLC25A15):c.782-164A>G	noncoding	Benign
13	40809585	G	A	G40809585A	SLC25A15	NM_014252.4(SLC25A15):c.824G>A:p.Arg275Gln	coding	Pathogenic
13	40809608	C	T	C40809608T	SLC25A15	NM_014252.4(SLC25A15):c.847C>T:p.Leu283Phe	coding	Pathogenic
13	40809715	T	A	T40809715A	SLC25A15	NM_014252.4(SLC25A15):c.*48T>A	noncoding	Benign
13	40809826	C	G	C40809826G	SLC25A15	NM_014252.4(SLC25A15):c.*159C>G	noncoding	Benign
13	40810020	A	G	A40810020G	SLC25A15	NM_014252.4(SLC25A15):c.*353A>G	noncoding	Benign
13	40810087	T	G	T40810087G	SLC25A15	NM_014252.4(SLC25A15):c.*420T>G	noncoding	Benign
13	40810182	A	G	A40810182G	SLC25A15	NM_014252.4(SLC25A15):c.*515A>G	noncoding	Benign
13	40810565	C	T	C40810565T	SLC25A15	NM_014252.4(SLC25A15):c.*898C>T	noncoding	Benign
13	40810596	G	C	G40810596C	SLC25A15	NM_014252.4(SLC25A15):c.*929G>C	noncoding	Benign
13	40811161	A	G	A40811161G	SLC25A15	NM_014252.4(SLC25A15):c.*1494A>G	noncoding	Benign
13	40811522	C	A	C40811522A	SLC25A15	NM_014252.4(SLC25A15):c.*1855C>A	noncoding	Benign
13	40811612	G	A	G40811612A	SLC25A15	NM_014252.4(SLC25A15):c.*1945G>A	noncoding	Benign
13	40811764	T	A	T40811764A	SLC25A15	NM_014252.4(SLC25A15):c.*2097T>A	noncoding	Benign
13	40811995	G	T	G40811995T	SLC25A15	NM_014252.4(SLC25A15):c.*2328G>T	noncoding	Benign
13	40933443	C	T	C40933443T	ELF1	NM_172373.4(ELF1):c.1842G>A:p.Leu614=	coding	Benign
13	40941085	T	A	T40941085A	ELF1	NM_172373.4(ELF1):c.1092A>T:p.Pro364=	coding	Benign
13	41065241	C	T	C41065241T	WBP4	NM_007187.5(WBP4):c.216C>T:p.Ala72=	coding	Benign
13	41217174	A	C	A41217174C	MTRF1	NM_004294.4(MTRF1):c.1279T>G:p.Ser427Ala	coding	Benign
13	41240402	G	A	G41240402A	MTRF1	NM_004294.4(MTRF1):c.729C>T:p.Ser243=	coding	Benign
13	41252956	A	T	A41252956T	MTRF1	NM_004294.4(MTRF1):c.582T>A:p.Thr194=	coding	Benign
13	41260503	T	C	T41260503C	MTRF1	NM_004294.4(MTRF1):c.405A>G:p.Ser135=	coding	Benign
13	41685059	T	G	T41685059G	VWA8	NM_015058.2(VWA8):c.4315A>C:p.Ile1439Leu	coding	Benign
13	41692935	G	A	G41692935A	VWA8	NM_015058.2(VWA8):c.3602C>T:p.Ala1201Val	coding	Benign
13	41721523	G	A	G41721523A	VWA8	NM_015058.2(VWA8):c.2811C>T:p.Leu937=	coding	Benign
13	41729685	G	A	G41729685A	VWA8	NM_015058.2(VWA8):c.2503-8C>T	noncoding	Benign
13	41833466	C	A	C41833466A	VWA8	NM_015058.2(VWA8):c.1491G>T:p.Arg497=	coding	Benign
13	41866027	C	T	C41866027T	VWA8	NM_015058.2(VWA8):c.1222G>A:p.Gly408Arg	coding	Benign
13	41885938	T	A	T41885938A	VWA8	NM_015058.2(VWA8):c.957A>T:p.Ala319=	coding	Benign
13	41960845	C	T	C41960845T	VWA8	NM_015058.2(VWA8):c.163+8G>A	noncoding	Benign
13	42297145	A	G	A42297145G	AKAP11	NM_016248.4(AKAP11):c.314A>G:p.Asn105Ser	coding	Benign
13	42300554	G	A	G42300554A	AKAP11	NM_016248.4(AKAP11):c.1808G>A:p.Arg603His	coding	Benign
13	42300574	C	T	C42300574T	AKAP11	NM_016248.4(AKAP11):c.1828C>T:p.Arg610Cys	coding	Benign
13	42301451	A	G	A42301451G	AKAP11	NM_016248.4(AKAP11):c.2705A>G:p.Glu902Gly	coding	Benign
13	42301955	A	G	A42301955G	AKAP11	NM_016248.4(AKAP11):c.3209A>G:p.His1070Arg	coding	Benign
13	42301967	C	T	C42301967T	AKAP11	NM_016248.4(AKAP11):c.3221C>T:p.Ser1074Phe	coding	Benign
13	42303121	A	G	A42303121G	AKAP11	NM_016248.4(AKAP11):c.4375A>G:p.Thr1459Ala	coding	Benign
13	42303622	C	T	C42303622T	AKAP11	NM_016248.4(AKAP11):c.4876C>T:p.Arg1626Cys	coding	Benign
13	42313117	C	G	C42313117G	AKAP11	NM_016248.4(AKAP11):c.5344C>G:p.Pro1782Ala	coding	Benign
13	42574177	C	G	C42574177G	TNFSF11	NM_003701.4(TNFSF11):c.-127C>G	noncoding	Benign
13	42574383	A	G	A42574383G	TNFSF11	NM_003701.4(TNFSF11):c.80A>G:p.Glu27Gly	coding	Benign
13	42574404	C	G	C42574404G	TNFSF11	NM_003701.4(TNFSF11):c.101C>G:p.Pro34Arg	coding	Benign
13	42574429	T	C	T42574429C	TNFSF11	NM_003701.4(TNFSF11):c.126T>C:p.Pro42=	coding	Benign
13	42574450	C	T	C42574450T	TNFSF11	NM_003701.4(TNFSF11):c.147C>T:p.Phe49=	coding	Benign
13	42581145	C	T	C42581145T	TNFSF11	NM_003701.4(TNFSF11):c.239C>T:p.Ser80Leu	coding	Benign
13	42581307	G	A	G42581307A	TNFSF11	NM_003701.4(TNFSF11):c.387+14G>A	noncoding	Benign
13	42600760	A	G	A42600760G	TNFSF11	NM_003701.4(TNFSF11):c.396A>G:p.Gln132=	coding	Benign
13	42606560	T	A	T42606560A	TNFSF11	NM_003701.4(TNFSF11):c.596T>A:p.Met199Lys	coding	Pathogenic
13	42606888	T	C	T42606888C	TNFSF11	NM_003701.4(TNFSF11):c.924T>C:p.Phe308=	coding	Benign
13	42606966	T	C	T42606966C	TNFSF11	NM_003701.4(TNFSF11):c.*48T>C	noncoding	Benign
13	42607182	G	T	G42607182T	TNFSF11	NM_003701.4(TNFSF11):c.*264G>T	noncoding	Benign
13	42607301	C	T	C42607301T	TNFSF11	NM_003701.4(TNFSF11):c.*383C>T	noncoding	Benign
13	42607622	G	A	G42607622A	TNFSF11	NM_003701.4(TNFSF11):c.*704G>A	noncoding	Benign
13	42607660	G	A	G42607660A	TNFSF11	NM_003701.4(TNFSF11):c.*742G>A	noncoding	Benign
13	42607866	G	T	G42607866T	TNFSF11	NM_003701.4(TNFSF11):c.*948G>T	noncoding	Benign
13	42970615	T	C	T42970615C	EPSTI1	NM_033255.5(EPSTI1):c.244A>G:p.Arg82Gly	coding	Benign
13	43880988	G	A	G43880988A	LACC1	NM_153218.4(LACC1):c.3G>A:p.Met1Ile	coding	Pathogenic
13	43881097	A	G	A43881097G	LACC1	NM_153218.4(LACC1):c.112A>G:p.Lys38Glu	coding	Benign
13	43888867	C	T	C43888867T	LACC1	NM_153218.4(LACC1):c.1018C>T:p.Pro340Ser	coding	Benign
13	43890220	C	T	C43890220T	LACC1	NM_153218.4(LACC1):c.1240C>T:p.Arg414Ter	coding	Pathogenic
13	44573957	T	C	T44573957C	TSC22D1	NM_183422.4(TSC22D1):c.2118A>G:p.Ala706=	coding	Benign
13	44575559	G	A	G44575559A	TSC22D1	NM_183422.4(TSC22D1):c.516C>T:p.Ser172=	coding	Benign
13	44941224	C	T	C44941224T	NUFIP1	NM_012345.3(NUFIP1):c.1470G>A:p.Ala490=	coding	Benign
13	44943622	A	T	A44943622T	NUFIP1	NM_012345.3(NUFIP1):c.1191T>A:p.Asp397Glu	coding	Benign
13	44989080	A	G	A44989080G	NUFIP1	NM_012345.3(NUFIP1):c.357T>C:p.Tyr119=	coding	Benign
13	44989224	G	A	G44989224A	NUFIP1	NM_012345.3(NUFIP1):c.213C>T:p.Ala71=	coding	Benign
13	44989400	C	T	C44989400T	NUFIP1	NM_012345.3(NUFIP1):c.37G>A:p.Gly13Arg	coding	Benign
13	45338684	C	T	C45338684T	TPT1	NM_003295.4(TPT1):c.492G>A:p.Lys164=	coding	Benign
13	46078860	A	G	A46078860G	CPB2	NM_001872.5(CPB2):c.426T>C:p.Asp142=	coding	Benign
13	46130935	G	C	G46130935C	LCP1	NM_002298.5(LCP1):c.1630C>G:p.Pro544Ala	coding	Benign
13	46142283	C	A	C46142283A	LCP1	NM_002298.5(LCP1):c.1502+9G>T	noncoding	Benign
13	46158935	G	A	G46158935A	LCP1	NM_002298.5(LCP1):c.119C>T:p.Ala40Val	coding	Benign
13	46371941	C	G	C46371941G	RUBCNL	NM_001286761.2(RUBCNL):c.535G>C:p.Gly179Arg	coding	Benign
13	46685996	A	G	A46685996G	LRCH1	NM_001164211.2(LRCH1):c.777A>G:p.Gln259=	coding	Benign
13	46694940	A	C	A46694940C	LRCH1	NM_001164211.2(LRCH1):c.1168A>C:p.Ser390Arg	coding	Benign
13	46771452	G	A	G46771452A	ESD	NM_001984.2(ESD):c.813C>T:p.Asp271=	coding	Benign
13	46777532	T	C	T46777532C	ESD	NM_001984.2(ESD):c.692A>G:p.Asp231Gly	coding	Benign
13	46782700	G	A	G46782700A	ESD	NM_001984.2(ESD):c.348C>T:p.Thr116=	coding	Benign
13	46835566	G	A	G46835566A	HTR2A	NM_000621.4(HTR2A):c.687C>T:p.Leu229=	coding	Benign
13	46895856	G	A	G46895856A	HTR2A	NM_000621.4(HTR2A):c.51C>T:p.Ser17=	coding	Benign
13	47942710	G	C	G47942710C	SUCLA2	NM_003850.2(SUCLA2):c.*661C>G	noncoding	Benign
13	47942710	G	T	G47942710T	SUCLA2	NM_003850.2(SUCLA2):c.*661C>A	noncoding	Benign
13	47942790	A	C	A47942790C	SUCLA2	NM_003850.3(SUCLA2):c.*581T>G	noncoding	Benign
13	47943043	T	C	T47943043C	SUCLA2	NM_003850.2(SUCLA2):c.*328A>G	noncoding	Benign
13	47943154	A	G	A47943154G	SUCLA2	NM_003850.2(SUCLA2):c.*217T>C	noncoding	Benign
13	47943166	A	G	A47943166G	SUCLA2	NM_003850.2(SUCLA2):c.*205T>C	noncoding	Benign
13	47943357	A	T	A47943357T	SUCLA2	NM_003850.2(SUCLA2):c.*14T>A	noncoding	Benign
13	47948773	G	T	G47948773T	SUCLA2	NM_003850.2(SUCLA2):c.1317+167C>A	noncoding	Benign
13	47948774	T	C	T47948774C	SUCLA2	NM_003850.2(SUCLA2):c.1317+166A>G	noncoding	Benign
13	47949272	C	T	C47949272T	SUCLA2	NM_003850.2(SUCLA2):c.1228+211G>A	noncoding	Benign
13	47949432	T	C	T47949432C	SUCLA2	NM_003850.2(SUCLA2):c.1228+51A>G	noncoding	Benign
13	47949817	C	T	C47949817T	SUCLA2	NM_003850.2(SUCLA2):c.1108-214G>A	noncoding	Benign
13	47949885	T	C	T47949885C	SUCLA2	NM_003850.2(SUCLA2):c.1108-282A>G	noncoding	Benign
13	47949907	A	T	A47949907T	SUCLA2	NM_003850.2(SUCLA2):c.1108-304T>A	noncoding	Benign
13	47953872	A	G	A47953872G	SUCLA2	NM_003850.2(SUCLA2):c.1107+268T>C	noncoding	Benign
13	47954148	C	T	C47954148T	SUCLA2	NM_003850.2(SUCLA2):c.1099G>A:p.Asp367Asn	coding	Benign
13	47954510	G	A	G47954510A	SUCLA2	NM_003850.2(SUCLA2):c.850C>T:p.Arg284Cys	coding	Pathogenic
13	47954545	T	A	T47954545A	SUCLA2	NM_003850.2(SUCLA2):c.815A>T:p.Asp272Val	coding	Pathogenic
13	47954627	T	C	T47954627C	SUCLA2	NM_003850.2(SUCLA2):c.803-70A>G	noncoding	Benign
13	47954868	C	T	C47954868T	SUCLA2	NM_003850.2(SUCLA2):c.803-311G>A	noncoding	Benign
13	47968349	C	T	C47968349T	SUCLA2	NM_003850.2(SUCLA2):c.802+246G>A	noncoding	Benign
13	47968508	A	G	A47968508G	SUCLA2	NM_003850.2(SUCLA2):c.802+87T>C	noncoding	Benign
13	47968608	A	G	A47968608G	SUCLA2	NM_003850.2(SUCLA2):c.789T>C:p.Asp263=	coding	Benign
13	47968646	C	T	C47968646T	SUCLA2	NM_003850.2(SUCLA2):c.751G>A:p.Asp251Asn	coding	Pathogenic
13	47968942	T	C	T47968942C	SUCLA2	NM_003850.2(SUCLA2):c.664-209A>G	noncoding	Benign
13	47973267	G	A	G47973267A	SUCLA2	NM_003850.2(SUCLA2):c.660C>T:p.Leu220=	coding	Benign/Likely_benign
13	47973332	A	T	A47973332T	SUCLA2	NM_003850.2(SUCLA2):c.595T>A:p.Ser199Thr	coding	Benign
13	47973528	T	C	T47973528C	SUCLA2	NM_003850.2(SUCLA2):c.535-136A>G	noncoding	Benign
13	47988540	C	T	C47988540T	SUCLA2	NM_003850.2(SUCLA2):c.534+1G>A	noncoding	Pathogenic
13	47988565	T	C	T47988565C	SUCLA2	NM_003850.2(SUCLA2):c.510A>G:p.Ala170=	coding	Benign/Likely_benign
13	47988873	G	A	G47988873A	SUCLA2	NM_003850.2(SUCLA2):c.371+9C>T	noncoding	Benign
13	47988901	C	T	C47988901T	SUCLA2	NM_003850.2(SUCLA2):c.352G>A:p.Gly118Arg	coding	Pathogenic
13	47989111	A	G	A47989111G	SUCLA2	NM_003850.2(SUCLA2):c.272-130T>C	noncoding	Benign
13	47996575	T	C	T47996575C	SUCLA2	NM_003850.2(SUCLA2):c.271+268A>G	noncoding	Benign
13	47996858	T	C	T47996858C	SUCLA2	NM_003850.2(SUCLA2):c.256A>G:p.Ile86Val	coding	Benign/Likely_benign
13	47997004	A	C	A47997004C	SUCLA2	NM_003850.2(SUCLA2):c.110T>G:p.Leu37Trp	coding	Benign
13	47997248	C	T	C47997248T	SUCLA2	NM_003850.2(SUCLA2):c.91-225G>A	noncoding	Benign
13	48001182	G	C	G48001182C	SUCLA2	NM_003850.2(SUCLA2):c.88C>G:p.Gln30Glu	coding	Benign
13	48001225	G	A	G48001225A	SUCLA2	NM_003850.2(SUCLA2):c.45C>T:p.Thr15=	coding	Benign
13	48001233	C	T	C48001233T	SUCLA2	NM_003850.2(SUCLA2):c.37G>A:p.Val13Met	coding	Benign/Likely_benign
13	48001303	C	A	C48001303A	SUCLA2	NM_003850.2(SUCLA2):c.-34G>T	noncoding	Benign
13	48001451	G	C	G48001451C	SUCLA2	NM_003850.2(SUCLA2):c.-182C>G	noncoding	Benign
13	48001557	G	T	G48001557T	SUCLA2	NM_003850.2(SUCLA2):c.-288C>A	noncoding	Benign
13	48077193	A	T	A48077193T	MED4	NM_014166.4(MED4):c.759T>A:p.Asp253Glu	coding	Benign
13	48233452	C	A	C48233452A	ITM2B	NM_021999.5(ITM2B):c.92C>A:p.Pro31His	coding	Benign
13	48256254	A	G	A48256254G	ITM2B	NM_021999.5(ITM2B):c.324A>G:p.Pro108=	coding	Benign
13	48261205	A	C	A48261205C	ITM2B	NM_021999.5(ITM2B):c.782A>C:p.Glu261Ala	coding	Pathogenic
13	48261222	T	A	T48261222A	ITM2B	NM_021999.5(ITM2B):c.799T>A:p.Ter267Arg	coding	Pathogenic
13	48303715	G	A	G48303715A	RB1	NM_000321.2(RB1):c.-198G>A	noncoding	Pathogenic
13	48303724	G	T	G48303724T	RB1	NM_000321.2(RB1):c.-189G>T	noncoding	Pathogenic
13	48303954	C	T	C48303954T	RB1	NM_000321.2(RB1):c.42C>T:p.Ala14=	coding	Benign/Likely_benign
13	48303964	G	T	G48303964T	RB1	NM_000321.2(RB1):c.52G>T:p.Ala18Ser	coding	Benign
13	48304015	C	T	C48304015T	RB1	NM_000321.2(RB1):c.103C>T:p.Gln35Ter	coding	Pathogenic
13	48304025	G	A	G48304025A	RB1	NM_000321.2(RB1):c.113G>A:p.Gly38Asp	coding	Benign/Likely_benign
13	48304050	G	T	G48304050T	RB1	NM_000321.2(RB1):c.137+1G>T	coding	Pathogenic
13	48304062	A	T	A48304062T	RB1	NM_000321.3(RB1):c.137+13A>T	noncoding	Benign
13	48307315	C	T	C48307315T	RB1	NM_000321.2(RB1):c.173C>T:p.Thr58Ile	coding	Benign
13	48307387	C	A	C48307387A	RB1	NM_000321.3(RB1):c.245C>A:p.Ser82Ter	coding	Pathogenic
13	48307407	G	A	G48307407A	RB1	NM_000321.2(RB1):c.264+1G>A	coding	Pathogenic
13	48342606	A	G	A48342606G	RB1	NM_000321.2(RB1):c.272A>G:p.Tyr91Cys	coding	Benign
13	48342611	C	T	C48342611T	RB1	NM_000321.2(RB1):c.277C>T:p.Gln93Ter	coding	Pathogenic
13	48342617	A	T	A48342617T	RB1	NM_000321.2(RB1):c.283A>T:p.Lys95Ter	coding	Pathogenic
13	48342631	G	A	G48342631A	RB1	NM_000321.2(RB1):c.297G>A:p.Trp99Ter	coding	Pathogenic
13	48342715	G	A	G48342715A	RB1	NM_000321.2(RB1):c.380+1G>A	coding	Pathogenic
13	48342717	A	T	A48342717T	RB1	NM_000321.2(RB1):c.380+3A>T	noncoding	Pathogenic
13	48342724	C	G	C48342724G	RB1	NM_000321.2(RB1):c.380+10C>G	noncoding	Benign/Likely_benign
13	48342726	T	C	T48342726C	RB1	NM_000321.2(RB1):c.380+12T>C	noncoding	Benign/Likely_benign
13	48342759	C	T	C48342759T	RB1	NM_000321.2(RB1):c.380+45C>T	noncoding	Benign
13	48345078	A	G	A48345078G	RB1	NM_000321.3(RB1):c.381-2A>G	noncoding	Pathogenic
13	48345079	G	A	G48345079A	RB1	NM_000321.2(RB1):c.381-1G>A	noncoding	Pathogenic
13	48345087	A	T	A48345087T	RB1	NM_000321.2(RB1):c.388A>T:p.Lys130Ter	coding	Pathogenic
13	48345108	G	T	G48345108T	RB1	NM_000321.2(RB1):c.409G>T:p.Glu137Ter	coding	Pathogenic
13	48345145	C	G	C48345145G	RB1	NM_000321.2(RB1):c.446C>G:p.Ser149Ter	coding	Pathogenic
13	48345172	T	A	T48345172A	RB1	NM_000321.3(RB1):c.473T>A:p.Leu158Ter	coding	Pathogenic
13	48345195	G	T	G48345195T	RB1	NM_000321.2(RB1):c.496G>T:p.Glu166Ter	coding	Pathogenic
13	48345200	G	T	G48345200T	RB1	NM_000321.2(RB1):c.500+1G>T	coding	Pathogenic
13	48345222	T	G	T48345222G	RB1	NM_000321.2(RB1):c.500+23T>G	noncoding	Benign
13	48347832	G	T	G48347832T	RB1	NM_000321.2(RB1):c.508G>T:p.Glu170Ter	coding	Pathogenic
13	48347863	C	T	C48347863T	RB1	NM_000321.2(RB1):c.539C>T:p.Ser180Leu	coding	Benign
13	48348953	T	C	T48348953C	RB1	NM_000321.3(RB1):c.540-3T>C	noncoding	Benign/Likely_benign
13	48348987	C	T	C48348987T	RB1	NM_000321.2(RB1):c.571C>T:p.Leu191=	coding	Benign/Likely_benign
13	48349024	G	A	G48349024A	RB1	NM_000321.3(RB1):c.607+1G>A	coding	Pathogenic
13	48349024	G	T	G48349024T	RB1	NM_000321.2(RB1):c.607+1G>T	coding	Pathogenic
13	48360053	C	A	C48360053A	RB1	NM_000321.2(RB1):c.644C>A:p.Ser215Ter	coding	Pathogenic
13	48360118	G	T	G48360118T	RB1	NM_000321.2(RB1):c.709G>T:p.Glu237Ter	coding	Pathogenic
13	48362847	C	T	C48362847T	RB1	NM_000321.2(RB1):c.751C>T:p.Arg251Ter	coding	Pathogenic
13	48362859	C	T	C48362859T	RB1	NM_000321.2(RB1):c.763C>T:p.Arg255Ter	coding	Pathogenic
13	48362955	G	T	G48362955T	RB1	NM_000321.2(RB1):c.859G>T:p.Glu287Ter	coding	Pathogenic
13	48362957	G	A	G48362957A	RB1	NM_000321.2(RB1):c.861G>A:p.Glu287=	coding	Pathogenic
13	48362957	G	C	G48362957C	RB1	NM_000321.2(RB1):c.861G>C:p.Glu287Asp	coding	Pathogenic
13	48364892	A	C	A48364892C	RB1	NM_000321.2(RB1):c.862-2A>C	noncoding	Pathogenic
13	48364930	A	C	A48364930C	RB1	NM_000321.2(RB1):c.898A>C:p.Met300Leu	coding	Benign
13	48364952	C	T	C48364952T	RB1	NM_000321.3(RB1):c.920C>T:p.Thr307Ile	coding	Benign/Likely_benign
13	48364969	G	T	G48364969T	RB1	NM_000321.2(RB1):c.937G>T:p.Glu313Ter	coding	Pathogenic
13	48367493	G	A	G48367493A	RB1	NM_000321.2(RB1):c.940-1G>A	noncoding	Pathogenic
13	48367495	T	A	T48367495A	RB1	NM_000321.2(RB1):c.941T>A:p.Val314Asp	coding	Benign
13	48367512	C	T	C48367512T	RB1	NM_000321.2(RB1):c.958C>T:p.Arg320Ter	coding	Pathogenic
13	48367518	G	T	G48367518T	RB1	NM_000321.2(RB1):c.964G>T:p.Glu322Ter	coding	Pathogenic
13	48367521	G	T	G48367521T	RB1	NM_000321.2(RB1):c.967G>T:p.Glu323Ter	coding	Pathogenic
13	48367575	A	T	A48367575T	RB1	NM_000321.2(RB1):c.1021A>T:p.Lys341Ter	coding	Pathogenic
13	48367604	G	T	G48367604T	RB1	NM_000321.2(RB1):c.1049+1G>T	coding	Pathogenic
13	48368549	C	T	C48368549T	RB1	NM_000321.2(RB1):c.1072C>T:p.Arg358Ter	coding	Pathogenic
13	48368550	G	A	G48368550A	RB1	NM_000321.2(RB1):c.1073G>A:p.Arg358Gln	coding	Benign
13	48373360	C	T	C48373360T	RB1	NM_000321.2(RB1):c.1128-45C>T	noncoding	Benign
13	48373362	C	T	C48373362T	RB1	NM_000321.2(RB1):c.1128-43C>T	noncoding	Benign
13	48373403	A	G	A48373403G	RB1	NM_000321.2(RB1):c.1128-2A>G	noncoding	Pathogenic
13	48373406	A	T	A48373406T	RB1	NM_000321.2(RB1):c.1129A>T:p.Thr377Ser	coding	Benign/Likely_benign
13	48373417	C	T	C48373417T	RB1	NM_000321.2(RB1):c.1140C>T:p.Asn380=	coding	Benign/Likely_benign
13	48373424	C	T	C48373424T	RB1	NM_000321.2(RB1):c.1147C>T:p.Gln383Ter	coding	Pathogenic
13	48373431	T	G	T48373431G	RB1	NM_000321.2(RB1):c.1154T>G:p.Leu385Ter	coding	Pathogenic
13	48373443	T	A	T48373443A	RB1	NM_000321.2(RB1):c.1166T>A:p.Leu389Ter	coding	Pathogenic
13	48373460	C	T	C48373460T	RB1	NM_000321.2(RB1):c.1183C>T:p.Gln395Ter	coding	Pathogenic
13	48373493	G	A	G48373493A	RB1	NM_000321.2(RB1):c.1215+1G>A	coding	Pathogenic
13	48373494	T	C	T48373494C	RB1	NM_000321.3(RB1):c.1215+2T>C	noncoding	Pathogenic
13	48376889	A	G	A48376889G	RB1	NM_000321.2(RB1):c.1216-29A>G	noncoding	Benign/Likely_benign
13	48376916	A	G	A48376916G	RB1	NM_000321.2(RB1):c.1216-2A>G	noncoding	Pathogenic
13	48376917	G	A	G48376917A	RB1	NM_000321.2(RB1):c.1216-1G>A	noncoding	Pathogenic
13	48376996	A	T	A48376996T	RB1	NM_000321.2(RB1):c.1294A>T:p.Lys432Ter	coding	Pathogenic
13	48377020	G	A	G48377020A	RB1	NM_000321.2(RB1):c.1318G>A:p.Glu440Lys	coding	Benign/Likely_benign
13	48377030	C	A	C48377030A	RB1	NM_000321.2(RB1):c.1328C>A:p.Ser443Ter	coding	Pathogenic
13	48377034	G	C	G48377034C	RB1	NM_000321.2(RB1):c.1332G>C:p.Gln444His	coding	Pathogenic
13	48377035	G	A	G48377035A	RB1	NM_000321.2(RB1):c.1332+1G>A	coding	Pathogenic
13	48377035	G	T	G48377035T	RB1	NM_000321.2(RB1):c.1332+1G>T	coding	Pathogenic
13	48379592	A	G	A48379592G	RB1	NM_000321.2(RB1):c.1333-2A>G	noncoding	Pathogenic
13	48379594	C	T	C48379594T	RB1	NM_000321.2(RB1):c.1333C>T:p.Arg445Ter	coding	Pathogenic
13	48379599	C	A	C48379599A	RB1	NM_000321.3(RB1):c.1338C>A:p.Tyr446Ter	coding	Pathogenic
13	48379606	G	A	G48379606A	RB1	NM_000321.2(RB1):c.1345G>A:p.Gly449Arg	coding	Pathogenic
13	48379607	G	T	G48379607T	RB1	NM_000321.2(RB1):c.1346G>T:p.Gly449Val	coding	Pathogenic
13	48379624	C	T	C48379624T	RB1	NM_000321.2(RB1):c.1363C>T:p.Arg455Ter	coding	Pathogenic
13	48379633	G	T	G48379633T	RB1	NM_000321.2(RB1):c.1372G>T:p.Glu458Ter	coding	Pathogenic
13	48379651	G	C	G48379651C	RB1	NM_000321.2(RB1):c.1389+1G>C	coding	Pathogenic
13	48379655	G	A	G48379655A	RB1	NM_000321.2(RB1):c.1389+5G>A	noncoding	Pathogenic
13	48380039	A	T	A48380039T	RB1	NM_000321.2(RB1):c.1390-14A>T	noncoding	Benign
13	48380042	A	G	A48380042G	RB1	NM_000321.2(RB1):c.1390-11A>G	noncoding	Benign/Likely_benign
13	48380051	A	G	A48380051G	RB1	NM_000321.2(RB1):c.1390-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	48380062	C	T	C48380062T	RB1	NM_000321.2(RB1):c.1399C>T:p.Arg467Ter	coding	Pathogenic
13	48380073	T	C	T48380073C	RB1	NM_000321.2(RB1):c.1410T>C:p.Ile470=	coding	Benign/Likely_benign
13	48380090	T	C	T48380090C	RB1	NM_000321.2(RB1):c.1421+6T>C	noncoding	Benign
13	48380093	T	C	T48380093C	RB1	NM_000321.2(RB1):c.1421+9T>C	noncoding	Benign
13	48380164	G	A	G48380164A	RB1	NM_000321.2(RB1):c.1422-1G>A	noncoding	Pathogenic
13	48380234	A	T	A48380234T	RB1	NM_000321.2(RB1):c.1491A>T:p.Thr497=	coding	Benign/Likely_benign
13	48380237	T	C	T48380237C	RB1	NM_000321.2(RB1):c.1494T>C:p.Tyr498=	coding	Benign
13	48381245	A	C	A48381245C	RB1	NM_000321.2(RB1):c.1499-2A>C	noncoding	Pathogenic
13	48381258	C	T	C48381258T	RB1	NM_000321.2(RB1):c.1510C>T:p.Gln504Ter	coding	Pathogenic
13	48381321	G	A	G48381321A	RB1	NM_000321.2(RB1):c.1573G>A:p.Ala525Thr	coding	Benign/Likely_benign
13	48381322	C	G	C48381322G	RB1	NM_000321.2(RB1):c.1574C>G:p.Ala525Gly	coding	Benign/Likely_benign
13	48381373	T	A	T48381373A	RB1	NM_000321.2(RB1):c.1625T>A:p.Leu542Ter	coding	Pathogenic
13	48381380	A	G	A48381380G	RB1	NM_000321.2(RB1):c.1632A>G:p.Arg544=	coding	Benign/Likely_benign
13	48381381	G	T	G48381381T	RB1	NM_000321.3(RB1):c.1633G>T:p.Glu545Ter	coding	Pathogenic
13	48381402	C	T	C48381402T	RB1	NM_000321.2(RB1):c.1654C>T:p.Arg552Ter	coding	Pathogenic
13	48381407	T	A	T48381407A	RB1	NM_000321.2(RB1):c.1659T>A:p.Cys553Ter	coding	Pathogenic
13	48381414	C	T	C48381414T	RB1	NM_000321.2(RB1):c.1666C>T:p.Arg556Ter	coding	Pathogenic
13	48381436	G	A	G48381436A	RB1	NM_000321.2(RB1):c.1688G>A:p.Trp563Ter	coding	Pathogenic
13	48381444	G	A	G48381444A	RB1	NM_000321.2(RB1):c.1695+1G>A	coding	Pathogenic
13	48381446	A	C	A48381446C	RB1	NM_000321.2(RB1):c.1695+3A>C	noncoding	Pathogenic
13	48411837	G	A	G48411837A	LPAR6	NM_000321.2(RB1):c.1695+30394G>A	coding	Pathogenic
13	48411839	A	G	A48411839G	LPAR6	NM_005767.6(LPAR6):c.585T>C:p.Ile195=	coding	Benign
13	48411859	C	T	C48411859T	LPAR6	NM_000321.2(RB1):c.1695+30416C>T	coding	Pathogenic
13	48411862	T	A	T48411862A	LPAR6	NM_000321.2(RB1):c.1695+30419T>A	coding	Pathogenic
13	48411961	G	A	G48411961A	LPAR6	NM_000321.2(RB1):c.1695+30518G>A	coding	Pathogenic
13	48411988	C	T	C48411988T	LPAR6	NM_005767.6(LPAR6):c.436G>A:p.Gly146Arg	coding	Pathogenic/Likely_pathogenic
13	48412236	T	A	T48412236A	LPAR6	NM_005767.6(LPAR6):c.188A>T:p.Asp63Val	coding	Pathogenic
13	48452981	T	G	T48452981G	RB1	NM_000321.2(RB1):c.1696-12T>G	noncoding	Pathogenic
13	48452992	G	A	G48452992A	RB1	NM_000321.2(RB1):c.1696-1G>A	noncoding	Pathogenic
13	48452997	C	T	C48452997T	RB1	NM_000321.2(RB1):c.1700C>T:p.Ser567Leu	coding	Pathogenic
13	48453020	C	T	C48453020T	RB1	NM_000321.2(RB1):c.1723C>T:p.Gln575Ter	coding	Pathogenic
13	48453032	C	T	C48453032T	RB1	NM_000321.2(RB1):c.1735C>T:p.Arg579Ter	coding	Pathogenic
13	48453035	G	T	G48453035T	RB1	NM_000321.2(RB1):c.1738G>T:p.Glu580Ter	coding	Pathogenic
13	48453063	C	G	C48453063G	RB1	NM_000321.2(RB1):c.1766C>G:p.Ala589Gly	coding	Benign
13	48453086	C	T	C48453086T	RB1	NM_000321.2(RB1):c.1789C>T:p.Gln597Ter	coding	Pathogenic
13	48453113	T	G	T48453113G	RB1	NM_000321.2(RB1):c.1814+2T>G	noncoding	Pathogenic
13	48456199	T	C	T48456199C	RB1	NM_000321.2(RB1):c.1815-5T>C	noncoding	Benign
13	48456207	T	A	T48456207A	RB1	NM_000321.2(RB1):c.1818T>A:p.Tyr606Ter	coding	Pathogenic
13	48456250	C	G	C48456250G	RB1	NM_000321.2(RB1):c.1861C>G:p.Arg621Gly	coding	Benign
13	48456265	G	A	G48456265A	RB1	NM_000321.2(RB1):c.1876G>A:p.Ala626Thr	coding	Benign
13	48456280	C	T	C48456280T	RB1	NM_000321.3(RB1):c.1891C>T:p.Gln631Ter	coding	Pathogenic
13	48456298	C	T	C48456298T	RB1	NM_000321.2(RB1):c.1909C>T:p.Gln637Ter	coding	Pathogenic
13	48456304	C	T	C48456304T	RB1	NM_000321.3(RB1):c.1915C>T:p.Gln639Ter	coding	Pathogenic
13	48456314	T	A	T48456314A	RB1	NM_000321.2(RB1):c.1925T>A:p.Leu642Ter	coding	Pathogenic
13	48456316	A	G	A48456316G	RB1	NM_000321.2(RB1):c.1927A>G:p.Lys643Glu	coding	Pathogenic
13	48456349	G	C	G48456349C	RB1	NM_000321.2(RB1):c.1960G>C:p.Val654Leu	coding	Pathogenic
13	48456350	G	C	G48456350C	RB1	NM_000321.3(RB1):c.1960+1G>C	coding	Pathogenic
13	48456350	G	T	G48456350T	RB1	NM_000321.3(RB1):c.1960+1G>T	coding	Pathogenic
13	48456351	T	C	T48456351C	RB1	NM_000321.2(RB1):c.1960+2T>C	noncoding	Pathogenic
13	48456351	T	G	T48456351G	RB1	NM_000321.3(RB1):c.1960+2T>G	noncoding	Pathogenic
13	48456354	G	C	G48456354C	RB1	NM_000321.2(RB1):c.1960+5G>C	noncoding	Pathogenic
13	48459676	T	C	T48459676C	RB1	NM_000321.3(RB1):c.1961-12T>C	noncoding	Benign/Likely_benign
13	48459682	C	T	C48459682T	RB1	NM_000321.2(RB1):c.1961-6C>T	noncoding	Benign
13	48459686	A	T	A48459686T	RB1	NM_000321.2(RB1):c.1961-2A>T	noncoding	Pathogenic
13	48459687	G	T	G48459687T	RB1	NM_000321.3(RB1):c.1961-1G>T	noncoding	Pathogenic
13	48459708	C	T	C48459708T	RB1	NM_000321.2(RB1):c.1981C>T:p.Arg661Trp	coding	Pathogenic
13	48459741	G	T	G48459741T	RB1	NM_000321.2(RB1):c.2014G>T:p.Glu672Ter	coding	Pathogenic
13	48459750	G	T	G48459750T	RB1	NM_000321.2(RB1):c.2023G>T:p.Glu675Ter	coding	Pathogenic
13	48459754	T	G	T48459754G	RB1	NM_000321.3(RB1):c.2027T>G:p.Leu676Ter	coding	Pathogenic
13	48459756	G	T	G48459756T	RB1	NM_000321.2(RB1):c.2029G>T:p.Glu677Ter	coding	Pathogenic
13	48459766	T	C	T48459766C	RB1	NM_000321.3(RB1):c.2039T>C:p.Ile680Thr	coding	Pathogenic
13	48459780	C	T	C48459780T	RB1	NM_000321.2(RB1):c.2053C>T:p.Gln685Ter	coding	Pathogenic
13	48459792	C	T	C48459792T	RB1	NM_000321.2(RB1):c.2065C>T:p.Gln689Ter	coding	Pathogenic
13	48459828	G	A	G48459828A	RB1	NM_000321.2(RB1):c.2101G>A:p.Asp701Asn	coding	Pathogenic
13	48459831	C	T	C48459831T	RB1	NM_000321.2(RB1):c.2104C>T:p.Gln702Ter	coding	Pathogenic
13	48459832	A	G	A48459832G	RB1	NM_000321.2(RB1):c.2105A>G:p.Gln702Arg	coding	Pathogenic
13	48459835	T	C	T48459835C	RB1	NM_000321.2(RB1):c.2106+2T>C	noncoding	Pathogenic
13	48463730	G	C	G48463730C	RB1	NM_000321.2(RB1):c.2107-1G>C	noncoding	Pathogenic
13	48463758	T	C	T48463758C	RB1	NM_000321.2(RB1):c.2134T>C:p.Cys712Arg	coding	Pathogenic/Likely_pathogenic
13	48463788	A	T	A48463788T	RB1	NM_000321.2(RB1):c.2164A>T:p.Lys722Ter	coding	Pathogenic
13	48463821	C	T	C48463821T	RB1	NM_000321.2(RB1):c.2197C>T:p.His733Tyr	coding	Pathogenic
13	48463830	C	T	C48463830T	RB1	NM_000321.2(RB1):c.2206C>T:p.Gln736Ter	coding	Pathogenic
13	48463833	G	T	G48463833T	RB1	NM_000321.2(RB1):c.2209G>T:p.Glu737Ter	coding	Pathogenic
13	48463835	G	A	G48463835A	RB1	NM_000321.2(RB1):c.2211G>A:p.Glu737=	coding	Pathogenic
13	48463835	G	T	G48463835T	RB1	NM_000321.2(RB1):c.2211G>T:p.Glu737Asp	coding	Pathogenic
13	48463836	G	T	G48463836T	RB1	NM_000321.3(RB1):c.2211+1G>T	coding	Pathogenic
13	48464992	C	T	C48464992T	RB1	NM_000321.2(RB1):c.2212-6C>T	noncoding	Benign/Likely_benign
13	48464997	G	A	G48464997A	RB1	NM_000321.2(RB1):c.2212-1G>A	noncoding	Pathogenic
13	48465028	G	T	G48465028T	RB1	NM_000321.2(RB1):c.2242G>T:p.Glu748Ter	coding	Pathogenic/Likely_pathogenic
13	48465033	T	A	T48465033A	RB1	NM_000321.2(RB1):c.2247T>A:p.Tyr749Ter	coding	Pathogenic
13	48465059	C	T	C48465059T	RB1	NM_000321.2(RB1):c.2273C>T:p.Ser758Leu	coding	Benign
13	48465060	G	A	G48465060A	RB1	NM_000321.2(RB1):c.2274G>A:p.Ser758=	coding	Benign/Likely_benign
13	48465070	C	T	C48465070T	RB1	NM_000321.2(RB1):c.2284C>T:p.Gln762Ter	coding	Pathogenic
13	48465112	G	A	G48465112A	RB1	NM_000321.2(RB1):c.2325+1G>A	coding	Pathogenic
13	48465203	A	G	A48465203G	RB1	NM_000321.3(RB1):c.2326-2A>G	noncoding	Pathogenic
13	48465218	C	G	C48465218G	RB1	NM_000321.2(RB1):c.2339C>G:p.Ser780Ter	coding	Pathogenic
13	48465238	C	T	C48465238T	RB1	NM_000321.2(RB1):c.2359C>T:p.Arg787Ter	coding	Pathogenic
13	48465249	C	A	C48465249A	RB1	NM_000321.2(RB1):c.2370C>A:p.Tyr790Ter	coding	Pathogenic
13	48465271	C	T	C48465271T	RB1	NM_000321.2(RB1):c.2392C>T:p.Arg798Trp	coding	Benign
13	48465307	A	T	A48465307T	RB1	NM_000321.3(RB1):c.2428A>T:p.Lys810Ter	coding	Pathogenic
13	48465318	T	A	T48465318A	RB1	NM_000321.2(RB1):c.2439T>A:p.Tyr813Ter	coding	Pathogenic
13	48465318	T	G	T48465318G	RB1	NM_000321.2(RB1):c.2439T>G:p.Tyr813Ter	coding	Pathogenic
13	48465326	C	A	C48465326A	RB1	NM_000321.2(RB1):c.2447C>A:p.Ser816Ter	coding	Pathogenic
13	48465334	C	G	C48465334G	RB1	NM_000321.2(RB1):c.2455C>G:p.Leu819Val	coding	Benign/Likely_benign
13	48465334	C	T	C48465334T	RB1	NM_000321.2(RB1):c.2455C>T:p.Leu819=	coding	Benign/Likely_benign
13	48465369	G	A	G48465369A	RB1	NM_000321.2(RB1):c.2489+1G>A	coding	Pathogenic
13	48465369	G	C	G48465369C	RB1	NM_000321.2(RB1):c.2489+1G>C	coding	Pathogenic
13	48465370	T	C	T48465370C	RB1	NM_000321.2(RB1):c.2489+2T>C	noncoding	Pathogenic
13	48471962	A	G	A48471962G	RB1	NM_000321.2(RB1):c.2490-1398A>G	noncoding	Pathogenic
13	48472037	C	T	C48472037T	RB1	NM_000321.2(RB1):c.2490-1323C>T	noncoding	Benign
13	48473359	G	A	G48473359A	RB1	NM_000321.2(RB1):c.2490-1G>A	noncoding	Pathogenic
13	48473371	C	A	C48473371A	RB1	NM_000321.2(RB1):c.2501C>A:p.Ser834Ter	coding	Pathogenic
13	48473383	C	A	C48473383A	RB1	NM_000321.2(RB1):c.2513C>A:p.Ser838Ter	coding	Pathogenic
13	48473383	C	G	C48473383G	RB1	NM_000321.2(RB1):c.2513C>G:p.Ser838Ter	coding	Pathogenic
13	48473391	G	A	G48473391A	RB1	NM_000321.2(RB1):c.2520+1G>A	coding	Pathogenic
13	48473391	G	T	G48473391T	RB1	NM_000321.2(RB1):c.2520+1G>T	coding	Pathogenic
13	48473395	G	T	G48473395T	RB1	NM_000321.2(RB1):c.2520+5G>T	noncoding	Pathogenic
13	48476690	G	A	G48476690A	RB1	NM_000321.2(RB1):c.2521-11G>A	noncoding	Benign/Likely_benign
13	48476694	T	A	T48476694A	RB1	NM_000321.2(RB1):c.2521-7T>A	noncoding	Benign
13	48476728	C	T	C48476728T	RB1	NM_000321.2(RB1):c.2548C>T:p.Gln850Ter	coding	Pathogenic
13	48476750	G	A	G48476750A	RB1	NM_000321.2(RB1):c.2570G>A:p.Arg857His	coding	Benign/Likely_benign
13	48476773	G	T	G48476773T	RB1	NM_000321.3(RB1):c.2593G>T:p.Gly865Ter	coding	Pathogenic
13	48476832	A	C	A48476832C	RB1	NM_000321.2(RB1):c.2652A>C:p.Glu884Asp	coding	Benign/Likely_benign
13	48476845	T	C	T48476845C	RB1	NM_000321.2(RB1):c.2663+2T>C	noncoding	Pathogenic
13	48476876	C	T	C48476876T	RB1	NM_000321.2(RB1):c.2663+33C>T	noncoding	Benign
13	48477345	T	A	T48477345A	RB1	NM_000321.3(RB1):c.2664-10T>A	noncoding	Benign
13	48480243	G	A	G48480243A	RB1	NM_000321.2(RB1):c.*172G>A	noncoding	Benign
13	48480534	T	A	T48480534A	RB1	NM_000321.2(RB1):c.*463T>A	noncoding	Benign
13	48480774	G	T	G48480774T	RB1	NM_000321.2(RB1):c.*703G>T	noncoding	Benign
13	48481035	C	G	C48481035G	RB1	NM_000321.2(RB1):c.*964C>G	noncoding	Benign
13	48481339	G	A	G48481339A	RB1	NM_000321.2(RB1):c.*1268G>A	noncoding	Benign
13	48481758	T	C	T48481758C	RB1	NM_000321.2(RB1):c.*1687T>C	noncoding	Benign
13	48481819	A	T	A48481819T	RB1	NM_000321.3(RB1):c.*1748A>T	noncoding	Benign
13	48481842	A	G	A48481842G	RB1	NM_000321.3(RB1):c.*1771A>G	noncoding	Benign
13	48706932	G	C	G48706932C	CYSLTR2	NM_001308467.3(CYSLTR2):c.115G>C:p.Glu39Gln	coding	Benign
13	48707087	G	A	G48707087A	CYSLTR2	NM_001308467.3(CYSLTR2):c.270G>A:p.Thr90=	coding	Benign
13	48707524	C	T	C48707524T	CYSLTR2	NM_001308467.3(CYSLTR2):c.707C>T:p.Ser236Leu	coding	Benign
13	48707543	C	G	C48707543G	CYSLTR2	NM_001308467.3(CYSLTR2):c.726C>G:p.His242Gln	coding	Benign
13	48707627	C	T	C48707627T	CYSLTR2	NM_001308467.3(CYSLTR2):c.810C>T:p.His270=	coding	Benign
13	48707717	C	T	C48707717T	CYSLTR2	NM_001308467.3(CYSLTR2):c.900C>T:p.Phe300=	coding	Benign
13	48707761	G	A	G48707761A	CYSLTR2	NM_001308467.3(CYSLTR2):c.944G>A:p.Arg315Lys	coding	Benign
13	49131203	A	G	A49131203G	FNDC3A	NM_001079673.2(FNDC3A):c.319A>G:p.Ser107Gly	coding	Benign
13	49145783	C	T	C49145783T	FNDC3A	NM_001079673.2(FNDC3A):c.825C>T:p.Ser275=	coding	Benign
13	49186098	C	T	C49186098T	FNDC3A	NM_001079673.2(FNDC3A):c.1752C>T:p.Thr584=	coding	Benign
13	49467916	C	T	C49467916T	SETDB2	NM_031915.3(SETDB2):c.297C>T:p.Pro99=	coding	Benign
13	49482767	A	T	A49482767T	SETDB2	NM_031915.3(SETDB2):c.1223A>T:p.Lys408Ile	coding	Benign
13	49482790	G	A	G49482790A	SETDB2	NM_031915.3(SETDB2):c.1246G>A:p.Gly416Arg	coding	Benign
13	49490916	A	C	A49490916C	SETDB2	NM_031915.3(SETDB2):c.2042+6A>C	noncoding	Benign
13	49544745	C	A	C49544745A	RCBTB1	NM_018191.4(RCBTB1):c.1164G>T:p.Leu388Phe	coding	Pathogenic/Likely_pathogenic
13	49544862	C	T	C49544862T	RCBTB1	NM_018191.4(RCBTB1):c.1047G>A:p.Glu349=	coding	Benign
13	49549489	A	G	A49549489G	RCBTB1	NM_018191.4(RCBTB1):c.1014T>C:p.Thr338=	coding	Benign
13	49549530	G	A	G49549530A	RCBTB1	NM_018191.4(RCBTB1):c.973C>T:p.His325Tyr	coding	Pathogenic/Likely_pathogenic
13	49549552	G	C	G49549552C	RCBTB1	NM_018191.4(RCBTB1):c.951C>G:p.Ser317=	coding	Benign
13	49549573	C	A	C49549573A	RCBTB1	NM_018191.4(RCBTB1):c.930G>T:p.Trp310Cys	coding	Pathogenic
13	49549584	C	T	C49549584T	RCBTB1	NM_018191.4(RCBTB1):c.919G>A:p.Val307Met	coding	Pathogenic/Likely_pathogenic
13	49551439	T	C	T49551439C	RCBTB1	NM_018191.4(RCBTB1):c.741A>G:p.Ala247=	coding	Benign
13	49551451	T	C	T49551451C	RCBTB1	NM_018191.4(RCBTB1):c.729A>G:p.Ala243=	coding	Benign
13	49566688	T	G	T49566688G	RCBTB1	NM_018191.4(RCBTB1):c.207A>C:p.Glu69Asp	coding	Benign
13	49630893	G	A	G49630893A	ARL11	NM_138450.6(ARL11):c.446G>A:p.Trp149Ter	coding	Benign
13	50909867	G	C	G50909867C	RNASEH2B	NM_001142279.2(RNASEH2B):c.-210G>C	noncoding	Benign
13	50910079	G	A	G50910079A	RNASEH2B	NM_001142279.2(RNASEH2B):c.3G>A:p.Met1Ile	coding	Pathogenic
13	50929494	G	A	G50929494A	RNASEH2B	NM_001142279.2(RNASEH2B):c.156G>A:p.Leu52=	coding	Benign/Likely_benign
13	50929527	A	G	A50929527G	RNASEH2B	NM_001142279.2(RNASEH2B):c.189A>G:p.Val63=	coding	Benign
13	50943320	G	A	G50943320A	RNASEH2B	NM_001142279.2(RNASEH2B):c.437-1G>A	noncoding	Pathogenic
13	50943372	C	T	C50943372T	RNASEH2B	NM_001142279.2(RNASEH2B):c.488C>T:p.Thr163Ile	coding	Pathogenic
13	50943395	G	A	G50943395A	RNASEH2B	NM_001142279.2(RNASEH2B):c.510+1G>A	coding	Pathogenic
13	50945445	G	A	G50945445A	RNASEH2B	NM_024570.4(RNASEH2B):c.529G>A:p.Ala177Thr	coding	Pathogenic/Likely_pathogenic
13	50945470	T	G	T50945470G	RNASEH2B	NM_001142279.2(RNASEH2B):c.554T>G:p.Val185Gly	coding	Pathogenic/Likely_pathogenic
13	50948037	G	T	G50948037T	RNASEH2B	NM_001142279.2(RNASEH2B):c.667G>T:p.Glu223Ter	coding	Pathogenic
13	50949483	C	G	C50949483G	RNASEH2B	NM_001142279.2(RNASEH2B):c.719C>G:p.Ser240Ter	coding	Pathogenic
13	50953991	T	C	T50953991C	RNASEH2B	NM_001142279.2(RNASEH2B):c.741+4486T>C	noncoding	Benign
13	50956394	G	T	G50956394T	RNASEH2B	NM_001142279.2(RNASEH2B):c.741+6889G>T	coding	Benign/Likely_benign
13	51251465	C	T	C51251465T	FAM124A	NM_001242312.2(FAM124A):c.101-3C>T	noncoding	Benign
13	51251598	G	A	G51251598A	FAM124A	NM_001242312.2(FAM124A):c.231G>A:p.Pro77=	coding	Benign
13	51280907	A	G	A51280907G	FAM124A	NM_001242312.2(FAM124A):c.1292A>G:p.Tyr431Cys	coding	Benign
13	51280956	C	T	C51280956T	FAM124A	NM_001242312.2(FAM124A):c.1341C>T:p.Ser447=	coding	Benign
13	51369170	T	C	T51369170C	INTS6	NM_012141.3(INTS6):c.2245A>G:p.Thr749Ala	coding	Benign
13	51387543	A	G	A51387543G	INTS6	NM_012141.3(INTS6):c.740-3T>C	noncoding	Benign
13	51932974	G	C	G51932974C	ATP7B	NM_000053.4(ATP7B):c.*1782C>G	noncoding	Benign
13	51933039	C	A	C51933039A	ATP7B	NM_000053.4(ATP7B):c.*1717G>T	noncoding	Benign
13	51933048	T	C	T51933048C	ATP7B	NM_000053.4(ATP7B):c.*1708A>G	noncoding	Benign
13	51933574	G	A	G51933574A	ATP7B	NM_000053.4(ATP7B):c.*1182C>T	noncoding	Benign
13	51933584	C	T	C51933584T	ATP7B	NM_000053.4(ATP7B):c.*1172G>A	noncoding	Benign
13	51934566	G	T	G51934566T	ATP7B	NM_000053.4(ATP7B):c.*190C>A	noncoding	Benign
13	51934843	C	T	C51934843T	ATP7B	NM_000053.4(ATP7B):c.4311G>A:p.Lys1437=	coding	Benign/Likely_benign
13	51934852	C	T	C51934852T	ATP7B	NM_000053.4(ATP7B):c.4302G>A:p.Thr1434=	coding	Benign/Likely_benign
13	51934933	A	T	A51934933T	ATP7B	NM_000053.4(ATP7B):c.4221T>A:p.Asp1407Glu	coding	Benign
13	51935603	G	A	G51935603A	ATP7B	NM_000053.4(ATP7B):c.4114C>T:p.Gln1372Ter	coding	Pathogenic
13	51935605	A	G	A51935605G	ATP7B	NM_000053.4(ATP7B):c.4112T>C:p.Leu1371Pro	coding	Pathogenic
13	51935629	G	A	G51935629A	ATP7B	NM_000053.4(ATP7B):c.4088C>T:p.Ser1363Phe	coding	Pathogenic/Likely_pathogenic
13	51935659	C	T	C51935659T	ATP7B	NM_000053.4(ATP7B):c.4058G>A:p.Trp1353Ter	coding	Pathogenic/Likely_pathogenic
13	51935666	G	A	G51935666A	ATP7B	NM_000053.4(ATP7B):c.4051C>T:p.Gln1351Ter	coding	Pathogenic
13	51935695	C	T	C51935695T	ATP7B	NM_000053.4(ATP7B):c.4022G>A:p.Gly1341Asp	coding	Pathogenic
13	51935853	C	G	C51935853G	ATP7B	NM_000053.4(ATP7B):c.4022-158G>C	noncoding	Benign
13	51936024	G	A	G51936024A	ATP7B	NM_000053.4(ATP7B):c.4022-329C>T	noncoding	Benign
13	51937226	C	G	C51937226G	ATP7B	NM_000053.4(ATP7B):c.4021+50G>C	noncoding	Benign
13	51937276	C	T	C51937276T	ATP7B	NM_000053.4(ATP7B):c.4021G>A:p.Gly1341Ser	coding	Pathogenic
13	51937337	C	G	C51937337G	ATP7B	NM_000053.4(ATP7B):c.3960G>C:p.Arg1320Ser	coding	Pathogenic
13	51937342	G	A	G51937342A	ATP7B	NM_000053.4(ATP7B):c.3955C>T:p.Arg1319Ter	coding	Pathogenic
13	51937395	T	C	T51937395C	ATP7B	NM_000053.4(ATP7B):c.3904-2A>G	noncoding	Pathogenic
13	51937470	G	A	G51937470A	ATP7B	NM_000053.4(ATP7B):c.3903+6C>T	noncoding	Benign/Likely_benign
13	51937484	G	A	G51937484A	ATP7B	NM_000053.4(ATP7B):c.3895C>T:p.Leu1299Phe	coding	Pathogenic/Likely_pathogenic
13	51937488	G	A	G51937488A	ATP7B	NM_000053.4(ATP7B):c.3891C>T:p.Val1297=	coding	Benign/Likely_benign
13	51937495	G	A	G51937495A	ATP7B	NM_000053.4(ATP7B):c.3884C>T:p.Ala1295Val	coding	Pathogenic
13	51937561	G	A	G51937561A	ATP7B	NM_000053.4(ATP7B):c.3818C>T:p.Pro1273Leu	coding	Pathogenic
13	51937561	G	T	G51937561T	ATP7B	NM_000053.4(ATP7B):c.3818C>A:p.Pro1273Gln	coding	Pathogenic/Likely_pathogenic
13	51937570	T	C	T51937570C	ATP7B	NM_000053.4(ATP7B):c.3809A>G:p.Asn1270Ser	coding	Pathogenic
13	51937583	C	T	C51937583T	ATP7B	NM_000053.4(ATP7B):c.3796G>A:p.Gly1266Arg	coding	Pathogenic
13	51937595	C	A	C51937595A	ATP7B	NM_000053.4(ATP7B):c.3784G>T:p.Val1262Phe	coding	Pathogenic/Likely_pathogenic
13	51937613	G	A	G51937613A	ATP7B	NM_000053.4(ATP7B):c.3766C>T:p.Gln1256Ter	coding	Pathogenic
13	51937646	G	A	G51937646A	ATP7B	NM_000053.4(ATP7B):c.3733C>T:p.Pro1245Ser	coding	Benign
13	51937657	G	A	G51937657A	ATP7B	NM_000053.4(ATP7B):c.3722C>T:p.Ala1241Val	coding	Pathogenic
13	51938752	C	T	C51938752T	ATP7B	NM_000053.4(ATP7B):c.3699+299G>A	noncoding	Benign
13	51939056	T	G	T51939056G	ATP7B	NM_000053.4(ATP7B):c.3694A>C:p.Thr1232Pro	coding	Pathogenic/Likely_pathogenic
13	51939091	G	A	G51939091A	ATP7B	NM_000053.4(ATP7B):c.3659C>T:p.Thr1220Met	coding	Pathogenic/Likely_pathogenic
13	51939104	C	T	C51939104T	ATP7B	NM_000053.4(ATP7B):c.3646G>A:p.Val1216Met	coding	Pathogenic/Likely_pathogenic
13	51939224	C	A	C51939224A	ATP7B	NM_000053.4(ATP7B):c.3557-31G>T	noncoding	Benign
13	51939288	T	C	T51939288C	ATP7B	NM_000053.4(ATP7B):c.3557-95A>G	noncoding	Benign
13	51941080	C	T	C51941080T	ATP7B	NM_000053.4(ATP7B):c.3556+1G>A	noncoding	Pathogenic/Likely_pathogenic
13	51941081	C	T	C51941081T	ATP7B	NM_000053.4(ATP7B):c.3556G>A:p.Gly1186Ser	coding	Pathogenic/Likely_pathogenic
13	51941105	T	C	T51941105C	ATP7B	NM_000053.4(ATP7B):c.3532A>G:p.Thr1178Ala	coding	Pathogenic
13	51941108	G	A	G51941108A	ATP7B	NM_000053.4(ATP7B):c.3529C>T:p.Gln1177Ter	coding	Pathogenic/Likely_pathogenic
13	51941120	C	T	C51941120T	ATP7B	NM_000053.4(ATP7B):c.3517G>A:p.Glu1173Lys	coding	Pathogenic/Likely_pathogenic
13	51941194	A	G	A51941194G	ATP7B	NM_000053.4(ATP7B):c.3443T>C:p.Ile1148Thr	coding	Pathogenic
13	51941209	G	T	G51941209T	ATP7B	NM_000053.4(ATP7B):c.3428C>A:p.Thr1143Asn	coding	Benign
13	51941218	A	G	A51941218G	ATP7B	NM_000053.4(ATP7B):c.3419T>C:p.Val1140Ala	coding	Benign
13	51942094	T	C	T51942094C	ATP7B	NM_000053.4(ATP7B):c.3412+292A>G	noncoding	Benign
13	51942399	A	G	A51942399G	ATP7B	NM_000053.4(ATP7B):c.3399T>C:p.Leu1133=	coding	Benign
13	51942417	C	T	C51942417T	ATP7B	NM_000053.4(ATP7B):c.3381G>A:p.Leu1127=	coding	Benign
13	51942432	T	C	T51942432C	ATP7B	NM_000053.4(ATP7B):c.3366A>G:p.Ala1122=	coding	Benign
13	51942493	A	G	A51942493G	ATP7B	NM_000053.4(ATP7B):c.3305T>C:p.Ile1102Thr	coding	Pathogenic
13	51942497	C	T	C51942497T	ATP7B	NM_000053.4(ATP7B):c.3301G>A:p.Gly1101Arg	coding	Pathogenic/Likely_pathogenic
13	51942514	T	G	T51942514G	ATP7B	NM_000053.4(ATP7B):c.3284A>C:p.Gln1095Pro	coding	Pathogenic
13	51942535	A	T	A51942535T	ATP7B	NM_000053.4(ATP7B):c.3263T>A:p.Leu1088Ter	coding	Pathogenic/Likely_pathogenic
13	51942551	G	A	G51942551A	ATP7B	NM_000053.4(ATP7B):c.3247C>T:p.Leu1083Phe	coding	Pathogenic
13	51942556	T	C	T51942556C	ATP7B	NM_000053.4(ATP7B):c.3244-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	51943819	C	T	C51943819T	ATP7B	NM_000053.4(ATP7B):c.3243+290G>A	noncoding	Benign
13	51944116	C	A	C51944116A	ATP7B	NM_000053.4(ATP7B):c.3236G>T:p.Cys1079Phe	coding	Pathogenic
13	51944142	G	A	G51944142A	ATP7B	NM_000053.4(ATP7B):c.3210C>T:p.Pro1070=	coding	Benign
13	51944145	G	T	G51944145T	ATP7B	NM_000053.4(ATP7B):c.3207C>A:p.His1069Gln	coding	Pathogenic
13	51944161	T	G	T51944161G	ATP7B	NM_000053.4(ATP7B):c.3191A>C:p.Glu1064Ala	coding	Pathogenic/Likely_pathogenic
13	51944170	C	T	C51944170T	ATP7B	NM_000053.4(ATP7B):c.3182G>A:p.Gly1061Glu	coding	Pathogenic
13	51944183	G	A	G51944183A	ATP7B	NM_000053.4(ATP7B):c.3169C>T:p.Leu1057=	coding	Benign
13	51944231	G	A	G51944231A	ATP7B	NM_000053.4(ATP7B):c.3121C>T:p.Arg1041Trp	coding	Pathogenic/Likely_pathogenic
13	51944248	C	A	C51944248A	ATP7B	NM_000053.4(ATP7B):c.3104G>T:p.Gly1035Val	coding	Pathogenic/Likely_pathogenic
13	51944251	T	C	T51944251C	ATP7B	NM_000053.4(ATP7B):c.3101A>G:p.His1034Arg	coding	Benign/Likely_benign
13	51944303	A	T	A51944303T	ATP7B	NM_000053.4(ATP7B):c.3061-12T>A	noncoding	Pathogenic/Likely_pathogenic
13	51946268	C	A	C51946268A	ATP7B	NM_000053.4(ATP7B):c.3060+16G>T	noncoding	Benign/Likely_benign
13	51946299	C	T	C51946299T	ATP7B	NM_000053.4(ATP7B):c.3045G>A:p.Leu1015=	coding	Benign
13	51946329	G	A	G51946329A	ATP7B	NM_000053.4(ATP7B):c.3015C>T:p.Asn1005=	coding	Benign/Likely_benign
13	51946333	T	G	T51946333G	ATP7B	NM_000053.4(ATP7B):c.3011A>C:p.Gln1004Pro	coding	Pathogenic
13	51946335	C	T	C51946335T	ATP7B	NM_000053.4(ATP7B):c.3009G>A:p.Ala1003=	coding	Benign
13	51946336	G	A	G51946336A	ATP7B	NM_000053.4(ATP7B):c.3008C>T:p.Ala1003Val	coding	Pathogenic/Likely_pathogenic
13	51946337	C	T	C51946337T	ATP7B	NM_000053.4(ATP7B):c.3007G>A:p.Ala1003Thr	coding	Pathogenic/Likely_pathogenic
13	51946369	G	A	G51946369A	ATP7B	NM_000053.4(ATP7B):c.2975C>T:p.Pro992Leu	coding	Pathogenic
13	51946371	C	T	C51946371T	ATP7B	NM_000053.4(ATP7B):c.2973G>A:p.Thr991=	coding	Benign
13	51946414	G	A	G51946414A	ATP7B	NM_000053.4(ATP7B):c.2930C>T:p.Thr977Met	coding	Pathogenic
13	51946420	G	T	G51946420T	ATP7B	NM_000053.4(ATP7B):c.2924C>A:p.Ser975Tyr	coding	Pathogenic
13	51946438	C	T	C51946438T	ATP7B	NM_000053.4(ATP7B):c.2906G>A:p.Arg969Gln	coding	Pathogenic
13	51946480	T	C	T51946480C	ATP7B	NM_000053.4(ATP7B):c.2866-2A>G	noncoding	Pathogenic
13	51946491	C	G	C51946491G	ATP7B	NM_000053.4(ATP7B):c.2866-13G>C	noncoding	Benign
13	51946568	C	A	C51946568A	ATP7B	NM_000053.4(ATP7B):c.2866-90G>T	noncoding	Benign
13	51946583	C	T	C51946583T	ATP7B	NM_000053.4(ATP7B):c.2866-105G>A	noncoding	Benign
13	51949661	C	T	C51949661T	ATP7B	NM_000053.4(ATP7B):c.2865+1G>A	noncoding	Pathogenic/Likely_pathogenic
13	51949672	C	T	C51949672T	ATP7B	NM_000053.4(ATP7B):c.2855G>A:p.Arg952Lys	coding	Benign
13	51949699	C	T	C51949699T	ATP7B	NM_000053.4(ATP7B):c.2828G>A:p.Gly943Asp	coding	Pathogenic/Likely_pathogenic
13	51949700	C	T	C51949700T	ATP7B	NM_000053.4(ATP7B):c.2827G>A:p.Gly943Ser	coding	Pathogenic
13	51949723	G	A	G51949723A	ATP7B	NM_000053.4(ATP7B):c.2804C>T:p.Thr935Met	coding	Pathogenic/Likely_pathogenic
13	51949732	G	T	G51949732T	ATP7B	NM_000053.4(ATP7B):c.2795C>A:p.Ser932Ter	coding	Pathogenic
13	51949772	G	C	G51949772C	ATP7B	NM_000053.4(ATP7B):c.2755C>G:p.Arg919Gly	coding	Pathogenic
13	51949798	T	C	T51949798C	ATP7B	NM_000053.4(ATP7B):c.2731-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	51950045	G	A	G51950045A	ATP7B	NM_000053.4(ATP7B):c.2692C>T:p.Gln898Ter	coding	Pathogenic
13	51950064	G	C	G51950064C	ATP7B	NM_000053.4(ATP7B):c.2673C>G:p.Gly891=	coding	Benign
13	51950075	T	G	T51950075G	ATP7B	NM_000053.4(ATP7B):c.2662A>C:p.Thr888Pro	coding	Pathogenic
13	51950114	C	T	C51950114T	ATP7B	NM_000053.4(ATP7B):c.2623G>A:p.Gly875Arg	coding	Benign
13	51950154	G	A	G51950154A	ATP7B	NM_000053.4(ATP7B):c.2583C>T:p.Ala861=	coding	Benign
13	51950271	C	T	C51950271T	ATP7B	NM_000053.4(ATP7B):c.2575+1G>A	noncoding	Pathogenic/Likely_pathogenic
13	51950298	G	A	G51950298A	ATP7B	NM_000053.4(ATP7B):c.2549C>T:p.Thr850Ile	coding	Pathogenic/Likely_pathogenic
13	51950328	G	A	G51950328A	ATP7B	NM_000053.4(ATP7B):c.2519C>T:p.Pro840Leu	coding	Pathogenic
13	51950352	T	C	T51950352C	ATP7B	NM_000053.4(ATP7B):c.2495A>G:p.Lys832Arg	coding	Benign
13	51950424	C	T	C51950424T	ATP7B	NM_000053.4(ATP7B):c.2448-25G>A	noncoding	Benign
13	51957227	C	A	C51957227A	ATP7B	NM_000053.4(ATP7B):c.2447+289G>T	noncoding	Benign
13	51957515	C	A	C51957515A	ATP7B	NM_000053.4(ATP7B):c.2447+1G>T	noncoding	Pathogenic
13	51957580	G	A	G51957580A	ATP7B	NM_000053.4(ATP7B):c.2383C>T:p.Leu795Phe	coding	Pathogenic/Likely_pathogenic
13	51957600	G	A	G51957600A	ATP7B	NM_000053.4(ATP7B):c.2363C>T:p.Thr788Ile	coding	Pathogenic
13	51957824	C	T	C51957824T	ATP7B	NM_000053.4(ATP7B):c.2356-217G>A	noncoding	Benign
13	51957903	T	C	T51957903C	ATP7B	NM_000053.4(ATP7B):c.2356-296A>G	noncoding	Benign
13	51958315	G	A	G51958315A	ATP7B	NM_000053.4(ATP7B):c.2351C>T:p.Ala784Val	coding	Pathogenic
13	51958330	C	T	C51958330T	ATP7B	NM_000053.4(ATP7B):c.2336G>A:p.Trp779Ter	coding	Pathogenic
13	51958333	C	A	C51958333A	ATP7B	NM_000053.4(ATP7B):c.2333G>T:p.Arg778Leu	coding	Pathogenic
13	51958333	C	T	C51958333T	ATP7B	NM_000053.4(ATP7B):c.2333G>A:p.Arg778Gln	coding	Pathogenic
13	51958334	G	A	G51958334A	ATP7B	NM_000053.4(ATP7B):c.2332C>T:p.Arg778Trp	coding	Pathogenic
13	51958334	G	C	G51958334C	ATP7B	NM_000053.4(ATP7B):c.2332C>G:p.Arg778Gly	coding	Pathogenic/Likely_pathogenic
13	51958361	T	C	T51958361C	ATP7B	NM_000053.4(ATP7B):c.2305A>G:p.Met769Val	coding	Pathogenic/Likely_pathogenic
13	51958369	G	C	G51958369C	ATP7B	NM_000053.4(ATP7B):c.2297C>G:p.Thr766Arg	coding	Pathogenic
13	51958372	T	C	T51958372C	ATP7B	NM_000053.4(ATP7B):c.2294A>G:p.Asp765Gly	coding	Pathogenic/Likely_pathogenic
13	51958373	C	T	C51958373T	ATP7B	NM_000053.4(ATP7B):c.2293G>A:p.Asp765Asn	coding	Pathogenic
13	51958436	A	G	A51958436G	ATP7B	NM_000053.4(ATP7B):c.2230T>C:p.Ser744Pro	coding	Pathogenic
13	51958443	A	T	A51958443T	ATP7B	NM_000053.4(ATP7B):c.2223T>A:p.Tyr741Ter	coding	Pathogenic
13	51958491	C	T	C51958491T	ATP7B	NM_000053.4(ATP7B):c.2175G>A:p.Arg725=	coding	Benign/Likely_benign
13	51958500	C	T	C51958500T	ATP7B	NM_000053.4(ATP7B):c.2166G>A:p.Leu722=	coding	Benign
13	51958509	G	T	G51958509T	ATP7B	NM_000053.4(ATP7B):c.2157C>A:p.Tyr719Ter	coding	Pathogenic/Likely_pathogenic
13	51958517	G	A	G51958517A	ATP7B	NM_000053.4(ATP7B):c.2149C>T:p.Gln717Ter	coding	Pathogenic
13	51958521	G	T	G51958521T	ATP7B	NM_000053.4(ATP7B):c.2145C>A:p.Tyr715Ter	coding	Pathogenic
13	51958535	C	T	C51958535T	ATP7B	NM_000053.4(ATP7B):c.2131G>A:p.Gly711Arg	coding	Pathogenic
13	51958538	C	T	C51958538T	ATP7B	NM_000053.4(ATP7B):c.2128G>A:p.Gly710Ser	coding	Pathogenic
13	51958543	A	G	A51958543G	ATP7B	NM_000053.4(ATP7B):c.2123T>C:p.Leu708Pro	coding	Pathogenic
13	51958552	A	C	A51958552C	ATP7B	NM_000053.4(ATP7B):c.2122-8T>G	noncoding	Pathogenic/Likely_pathogenic
13	51960197	C	A	C51960197A	ATP7B	NM_000053.4(ATP7B):c.2072G>T:p.Gly691Val	coding	Pathogenic/Likely_pathogenic
13	51960198	C	T	C51960198T	ATP7B	NM_000053.4(ATP7B):c.2071G>A:p.Gly691Arg	coding	Pathogenic/Likely_pathogenic
13	51961838	G	A	G51961838A	ATP7B	NM_000053.4(ATP7B):c.1945C>T:p.Gln649Ter	coding	Pathogenic
13	51961849	A	C	A51961849C	ATP7B	NM_000053.4(ATP7B):c.1934T>G:p.Met645Arg	coding	Pathogenic/Likely_pathogenic
13	51961859	C	A	C51961859A	ATP7B	NM_000053.4(ATP7B):c.1924G>T:p.Asp642Tyr	coding	Pathogenic/Likely_pathogenic
13	51961905	G	A	G51961905A	ATP7B	NM_000053.4(ATP7B):c.1878C>T:p.Gly626=	coding	Benign/Likely_benign
13	51961978	C	T	C51961978T	ATP7B	NM_000053.4(ATP7B):c.1870-65G>A	noncoding	Benign
13	51962130	T	C	T51962130C	ATP7B	NM_000053.4(ATP7B):c.1870-217A>G	noncoding	Benign
13	51964894	C	T	C51964894T	ATP7B	NM_000053.4(ATP7B):c.1847G>A:p.Arg616Gln	coding	Pathogenic
13	51964969	C	T	C51964969T	ATP7B	NM_000053.4(ATP7B):c.1772G>A:p.Gly591Asp	coding	Pathogenic/Likely_pathogenic
13	51965013	C	T	C51965013T	ATP7B	NM_000053.4(ATP7B):c.1728G>A:p.Ala576=	coding	Benign/Likely_benign
13	51965034	C	G	C51965034G	ATP7B	NM_000053.4(ATP7B):c.1708-1G>C	coding	Pathogenic/Likely_pathogenic
13	51965034	C	T	C51965034T	ATP7B	NM_000053.4(ATP7B):c.1708-1G>A	coding	Pathogenic
13	51965038	A	C	A51965038C	ATP7B	NM_000053.4(ATP7B):c.1708-5T>G	noncoding	Pathogenic/Likely_pathogenic
13	51968435	A	G	A51968435G	ATP7B	NM_000053.4(ATP7B):c.1707+9T>C	noncoding	Benign
13	51968521	G	A	G51968521A	ATP7B	NM_000053.4(ATP7B):c.1630C>T:p.Gln544Ter	coding	Pathogenic
13	51968660	T	G	T51968660G	ATP7B	NM_000053.4(ATP7B):c.1544-53A>C	noncoding	Benign
13	51970491	C	A	C51970491A	ATP7B	NM_000053.4(ATP7B):c.1543+1G>T	noncoding	Pathogenic
13	51970504	G	A	G51970504A	ATP7B	NM_000053.4(ATP7B):c.1531C>T:p.Gln511Ter	coding	Pathogenic
13	51970565	G	T	G51970565T	ATP7B	NM_000053.4(ATP7B):c.1470C>A:p.Cys490Ter	coding	Pathogenic/Likely_pathogenic
13	51970660	C	A	C51970660A	ATP7B	NM_000053.4(ATP7B):c.1375G>T:p.Val459Leu	coding	Benign
13	51970669	C	G	C51970669G	ATP7B	NM_000053.4(ATP7B):c.1366G>C:p.Val456Leu	coding	Benign
13	51970699	C	G	C51970699G	ATP7B	NM_000053.4(ATP7B):c.1336G>C:p.Val446Leu	coding	Benign
13	51970841	T	C	T51970841C	ATP7B	NM_000053.4(ATP7B):c.1286-92A>G	noncoding	Benign
13	51970842	T	G	T51970842G	ATP7B	NM_000053.4(ATP7B):c.1286-93A>C	noncoding	Benign
13	51971005	A	G	A51971005G	ATP7B	NM_000053.4(ATP7B):c.1286-256T>C	noncoding	Benign
13	51973930	C	A	C51973930A	ATP7B	NM_000053.4(ATP7B):c.1285+5G>T	noncoding	Pathogenic/Likely_pathogenic
13	51974004	A	C	A51974004C	ATP7B	NM_000053.4(ATP7B):c.1216T>G:p.Ser406Ala	coding	Benign
13	51974157	G	A	G51974157A	ATP7B	NM_000053.4(ATP7B):c.1063C>T:p.Gln355Ter	coding	Pathogenic/Likely_pathogenic
13	51974226	C	A	C51974226A	ATP7B	NM_000053.4(ATP7B):c.994G>T:p.Glu332Ter	coding	Pathogenic
13	51974250	T	A	T51974250A	ATP7B	NM_000053.4(ATP7B):c.970A>T:p.Lys324Ter	coding	Pathogenic/Likely_pathogenic
13	51974305	A	T	A51974305T	ATP7B	NM_000053.4(ATP7B):c.915T>A:p.Cys305Ter	coding	Pathogenic
13	51974350	C	G	C51974350G	ATP7B	NM_000053.4(ATP7B):c.870G>C:p.Val290=	coding	Benign
13	51974355	G	A	G51974355A	ATP7B	NM_000053.4(ATP7B):c.865C>T:p.Gln289Ter	coding	Pathogenic/Likely_pathogenic
13	51974364	G	A	G51974364A	ATP7B	NM_000053.4(ATP7B):c.856C>T:p.Gln286Ter	coding	Pathogenic
13	51974407	G	T	G51974407T	ATP7B	NM_000053.4(ATP7B):c.813C>A:p.Cys271Ter	coding	Pathogenic
13	51974680	G	A	G51974680A	ATP7B	NM_000053.4(ATP7B):c.540C>T:p.Asn180=	coding	Benign
13	51974906	G	T	G51974906T	ATP7B	NM_000053.4(ATP7B):c.314C>A:p.Ser105Ter	coding	Pathogenic/Likely_pathogenic
13	51974937	G	A	G51974937A	ATP7B	NM_000053.4(ATP7B):c.283C>T:p.Gln95Ter	coding	Pathogenic
13	51975098	T	C	T51975098C	ATP7B	NM_000053.4(ATP7B):c.122A>G:p.Asn41Ser	coding	Pathogenic/Likely_pathogenic
13	52011283	T	A	T52011283A	ATP7B	NM_000053.4(ATP7B):c.51+4A>T	noncoding	Pathogenic
13	52011297	G	T	G52011297T	ATP7B	NM_000053.4(ATP7B):c.41C>A:p.Ala14Asp	coding	Benign
13	52011329	C	T	C52011329T	ATP7B	NM_000053.4(ATP7B):c.9G>A:p.Glu3=	coding	Benign
13	52011412	G	T	G52011412T	ATP7B;ALG11	NM_000053.4(ATP7B):c.-75C>A	noncoding	Benign
13	52011733	G	C	G52011733C	ATP7B	NC_000013.11:g.52011733G>C	noncoding	Benign
13	52011745	A	G	A52011745G	ATP7B	NM_001004127.2(ALG11):c.-674A>G	noncoding	Benign
13	52011857	G	A	G52011857A	ATP7B	NC_000013.11:g.52011857G>A	noncoding	Benign
13	52019041	A	T	A52019041T	ALG11	NM_001004127.3(ALG11):c.173A>T:p.Asn58Ile	coding	Benign/Likely_benign
13	52019125	T	C	T52019125C	ALG11	NM_001004127.3(ALG11):c.257T>C:p.Leu86Ser	coding	Pathogenic
13	52024053	A	G	A52024053G	ALG11	NM_001004127.3(ALG11):c.323A>G:p.Asn108Ser	coding	Benign
13	52024566	A	C	A52024566C	ALG11	NM_001004127.3(ALG11):c.836A>C:p.Tyr279Ser	coding	Pathogenic
13	52024663	G	A	G52024663A	ALG11	NM_001004127.3(ALG11):c.933G>A:p.Pro311=	coding	Benign
13	52024683	A	C	A52024683C	ALG11	NM_001004127.3(ALG11):c.953A>C:p.Gln318Pro	coding	Pathogenic
13	52024762	T	G	T52024762G	ALG11	NM_001004127.3(ALG11):c.1032T>G:p.Gly344=	coding	Benign/Likely_benign
13	52024837	T	C	T52024837C	ALG11	NM_001004127.3(ALG11):c.1107T>C:p.Tyr369=	coding	Benign/Likely_benign
13	52024872	T	C	T52024872C	ALG11	NM_001004127.3(ALG11):c.1142T>C:p.Leu381Ser	coding	Pathogenic
13	52024922	G	A	G52024922A	ALG11	NM_001004127.3(ALG11):c.1192G>A:p.Glu398Lys	coding	Pathogenic
13	52028783	A	C	A52028783C	ALG11	NM_001004127.3(ALG11):c.*193A>C	noncoding	Benign
13	52029058	G	T	G52029058T	ALG11	NM_001004127.3(ALG11):c.*468G>T	coding	Benign
13	52029105	A	G	A52029105G	ALG11	NM_001004127.3(ALG11):c.*515A>G	coding	Benign
13	52029639	C	T	C52029639T	ALG11	NM_001004127.3(ALG11):c.*1049C>T	coding	Benign
13	52144720	G	C	G52144720C	NEK3	NM_002498.3(NEK3):c.775C>G:p.Arg259Gly	coding	Benign
13	52378182	C	G	C52378182G	THSD1	NM_018676.4(THSD1):c.1788G>C:p.Ala596=	coding	Benign
13	52378256	A	G	A52378256G	THSD1	NM_018676.4(THSD1):c.1714T>C:p.Leu572=	coding	Benign
13	52378622	G	A	G52378622A	THSD1	NM_018676.4(THSD1):c.1348C>T:p.Arg450Ter	coding	Pathogenic
13	52378798	A	C	A52378798C	THSD1	NM_018676.4(THSD1):c.1181-9T>G	noncoding	Benign
13	52461155	A	G	A52461155G	CKAP2	NM_018204.5(CKAP2):c.329A>G:p.Asn110Ser	coding	Benign
13	52461762	T	A	T52461762A	CKAP2	NM_018204.5(CKAP2):c.936T>A:p.Thr312=	coding	Benign
13	52462418	A	G	A52462418G	CKAP2	NM_018204.5(CKAP2):c.1156A>G:p.Asn386Asp	coding	Benign
13	52473831	G	A	G52473831A	CKAP2	NM_018204.5(CKAP2):c.1549G>A:p.Glu517Lys	coding	Benign
13	52739109	C	A	C52739109A	CNMD	NM_007015.3(CNMD):c.135G>T:p.Val45=	coding	Benign
13	52844596	G	A	G52844596A	PCDH8	NM_002590.4(PCDH8):c.3177C>T:p.Tyr1059=	coding	Benign
13	52844719	A	G	A52844719G	PCDH8	NM_002590.4(PCDH8):c.3054T>C:p.Tyr1018=	coding	Benign
13	52846354	C	T	C52846354T	PCDH8	NM_002590.4(PCDH8):c.2083G>A:p.Gly695Ser	coding	Benign
13	52846422	A	T	A52846422T	PCDH8	NM_002590.4(PCDH8):c.2015T>A:p.Leu672Gln	coding	Benign
13	52847651	G	C	G52847651C	PCDH8	NM_002590.4(PCDH8):c.786C>G:p.Gly262=	coding	Benign
13	52847689	C	T	C52847689T	PCDH8	NM_002590.4(PCDH8):c.748G>A:p.Val250Met	coding	Benign
13	59666695	C	T	C59666695T	DIAPH3	NM_001042517.2(DIAPH3):c.3471G>A:p.Ala1157=	coding	Benign
13	59666827	C	T	C59666827T	DIAPH3	NM_001042517.2(DIAPH3):c.3339G>A:p.Leu1113=	coding	Benign
13	59810820	T	C	T59810820C	DIAPH3	NM_001042517.2(DIAPH3):c.3131A>G:p.Gln1044Arg	coding	Benign/Likely_benign
13	59861392	T	C	T59861392C	DIAPH3	NM_001042517.2(DIAPH3):c.2737+15A>G	coding	Benign
13	59879361	A	G	A59879361G	DIAPH3	NM_001042517.2(DIAPH3):c.2475T>C:p.Thr825=	coding	Benign
13	59911785	A	G	A59911785G	DIAPH3	NM_001042517.2(DIAPH3):c.2317T>C:p.Phe773Leu	coding	Benign/Likely_benign
13	59970971	G	T	G59970971T	DIAPH3	NM_001042517.2(DIAPH3):c.1840C>A:p.Pro614Thr	coding	Benign/Likely_benign
13	59971024	G	A	G59971024A	DIAPH3	NM_001042517.2(DIAPH3):c.1787C>T:p.Pro596Leu	coding	Benign
13	59971048	G	A	G59971048A	DIAPH3	NM_001042517.2(DIAPH3):c.1763C>T:p.Pro588Leu	coding	Benign
13	59971078	G	A	G59971078A	DIAPH3	NM_001042517.2(DIAPH3):c.1733C>T:p.Pro578Leu	coding	Benign
13	59974379	T	C	T59974379C	DIAPH3	NM_001042517.2(DIAPH3):c.1623A>G:p.Gln541=	coding	Benign
13	59974431	T	C	T59974431C	DIAPH3	NM_001042517.2(DIAPH3):c.1571A>G:p.Gln524Arg	coding	Benign
13	59992115	A	G	A59992115G	DIAPH3	NM_001042517.2(DIAPH3):c.1197T>C:p.Asp399=	coding	Benign
13	59992510	T	C	T59992510C	DIAPH3	NM_001042517.2(DIAPH3):c.1088A>G:p.Asn363Ser	coding	Benign
13	60015973	T	A	T60015973A	DIAPH3	NM_001042517.2(DIAPH3):c.711A>T:p.Lys237Asn	coding	Benign/Likely_benign
13	60163621	C	T	C60163621T	DIAPH3	NM_001042517.2(DIAPH3):c.146G>A:p.Gly49Asp	coding	Benign
13	66631388	A	G	A66631388G	PCDH9	NM_203487.3(PCDH9):c.3162T>C:p.His1054=	coding	Benign
13	69975805	A	G	A69975805G	KLHL1	NM_020866.3(KLHL1):c.498-3T>C	noncoding	Benign
13	70107328	T	G	T70107328G	KLHL1	NM_020866.3(KLHL1):c.372A>C:p.Ser124=	coding	Benign
13	71630557	G	C	G71630557C	DACH1	NM_080759.6(DACH1):c.1125C>G:p.Val375=	coding	Benign
13	72783562	G	A	G72783562A	PIBF1	NM_006346.4(PIBF1):c.93G>A:p.Thr31=	coding	Benign
13	72783620	A	G	A72783620G	PIBF1	NM_006346.4(PIBF1):c.151A>G:p.Ile51Val	coding	Benign
13	72783687	T	C	T72783687C	PIBF1	NM_006346.4(PIBF1):c.218T>C:p.Met73Thr	coding	Benign
13	72893914	C	T	C72893914T	PIBF1	NM_006346.4(PIBF1):c.1453C>T:p.Gln485Ter	coding	Pathogenic
13	72908550	A	G	A72908550G	PIBF1	NM_006346.4(PIBF1):c.1508A>G:p.Tyr503Cys	coding	Pathogenic/Likely_pathogenic
13	72908609	C	A	C72908609A	PIBF1	NM_006346.4(PIBF1):c.1567C>A:p.His523Asn	coding	Benign
13	72917115	A	G	A72917115G	PIBF1	NM_006346.4(PIBF1):c.1679A>G:p.Tyr560Cys	coding	Benign
13	72931210	G	A	G72931210A	PIBF1	NM_006346.4(PIBF1):c.1776G>A:p.Ser592=	coding	Benign
13	72931235	C	T	C72931235T	PIBF1	NM_006346.4(PIBF1):c.1801C>T:p.Arg601Ter	coding	Pathogenic
13	72965350	A	C	A72965350C	PIBF1	NM_006346.4(PIBF1):c.1910A>C:p.Asp637Ala	coding	Pathogenic
13	72965358	A	T	A72965358T	PIBF1	NM_006346.4(PIBF1):c.1918A>T:p.Ile640Phe	coding	Pathogenic/Likely_pathogenic
13	73062344	A	G	A73062344G	KLF5	NM_001730.5(KLF5):c.745A>G:p.Met249Val	coding	Benign
13	73062699	T	A	T73062699A	KLF5	NM_001730.5(KLF5):c.1100T>A:p.Leu367Ter	coding	Pathogenic
13	75286993	T	A	T75286993A	TBC1D4	NM_014832.5(TBC1D4):c.3696A>T:p.Ser1232=	coding	Benign
13	75288980	T	C	T75288980C	TBC1D4	NM_014832.5(TBC1D4):c.3617A>G:p.Asn1206Ser	coding	Benign
13	75292232	A	G	A75292232G	TBC1D4	NM_014832.5(TBC1D4):c.3356T>C:p.Val1119Ala	coding	Benign
13	75299364	C	T	C75299364T	TBC1D4	NM_014832.5(TBC1D4):c.3122G>A:p.Arg1041His	coding	Pathogenic
13	75312867	T	C	T75312867C	TBC1D4	NM_014832.5(TBC1D4):c.2254A>G:p.Thr752Ala	coding	Benign
13	75324385	G	C	G75324385C	TBC1D4	NM_014832.5(TBC1D4):c.2050C>G:p.Arg684Gly	coding	Benign
13	75341149	G	A	G75341149A	TBC1D4	NM_014832.5(TBC1D4):c.1587C>T:p.His529=	coding	Benign
13	75804311	G	A	G75804311A	LMO7	NM_001306080.2(LMO7):c.684G>A:p.Ser228=	coding	Benign
13	75807543	T	C	T75807543C	LMO7	NM_001306080.2(LMO7):c.1260T>C:p.His420=	coding	Benign
13	75807893	G	A	G75807893A	LMO7	NM_001306080.2(LMO7):c.1610G>A:p.Arg537Lys	coding	Benign
13	75807915	C	T	C75807915T	LMO7	NM_001306080.2(LMO7):c.1632C>T:p.Pro544=	coding	Benign
13	75823557	T	A	T75823557A	LMO7	NM_001306080.2(LMO7):c.2641-8T>A	noncoding	Benign
13	75823574	G	A	G75823574A	LMO7	NM_001306080.2(LMO7):c.2650G>A:p.Ala884Thr	coding	Benign
13	75823635	C	T	C75823635T	LMO7	NM_001306080.2(LMO7):c.2711C>T:p.Thr904Ile	coding	Benign
13	76885888	G	A	G76885888A	KCTD12	NM_138444.4(KCTD12):c.261C>T:p.Phe87=	coding	Benign
13	76885945	C	T	C76885945T	KCTD12	NM_138444.4(KCTD12):c.204G>A:p.Gln68=	coding	Benign
13	76953656	G	T	G76953656T	ACOD1	NM_001258406.2(ACOD1):c.231G>T:p.Pro77=	coding	Benign
13	76955316	C	T	C76955316T	ACOD1	NM_001258406.2(ACOD1):c.265-3C>T	noncoding	Benign
13	76955509	A	G	A76955509G	ACOD1	NM_001258406.2(ACOD1):c.455A>G:p.Asn152Ser	coding	Benign
13	76957357	G	A	G76957357A	ACOD1	NM_001258406.2(ACOD1):c.818G>A:p.Arg273His	coding	Benign
13	76991955	C	T	C76991955T	CLN5	NM_006493.2(CLN5):c.4C>T:p.Arg2Cys	coding	Benign
13	76992023	A	G	A76992023G	CLN5	NM_006493.2(CLN5):c.72A>G:p.Gly24=	coding	Benign/Likely_benign
13	76992067	C	A	C76992067A	CLN5	NM_006493.2(CLN5):c.116C>A:p.Ser39Ter	coding	Pathogenic
13	76992175	G	A	G76992175A	CLN5	NM_006493.4(CLN5):c.77G>A:p.Trp26Ter	coding	Pathogenic
13	76992176	G	A	G76992176A	CLN5	NM_006493.4(CLN5):c.78G>A:p.Trp26Ter	coding	Pathogenic
13	76992181	G	A	G76992181A	CLN5	NM_006493.4(CLN5):c.83G>A:p.Trp28Ter	coding	Pathogenic
13	76992185	C	G	C76992185G	CLN5	NM_006493.4(CLN5):c.87C>G:p.Ala29=	coding	Benign/Likely_benign
13	76992279	C	T	C76992279T	CLN5	NM_006493.4(CLN5):c.173+8C>T	noncoding	Benign
13	76992285	C	T	C76992285T	CLN5	NM_006493.4(CLN5):c.173+14C>T	noncoding	Benign
13	76992289	C	T	C76992289T	CLN5	NM_006493.4(CLN5):c.173+18C>T	noncoding	Benign
13	76995077	G	C	G76995077C	CLN5	NM_006493.4(CLN5):c.188G>C:p.Arg63Pro	coding	Pathogenic
13	76995175	C	T	C76995175T	CLN5	NM_006493.4(CLN5):c.286C>T:p.Arg96Ter	coding	Pathogenic/Likely_pathogenic
13	76995537	T	C	T76995537C	CLN5	NM_006493.4(CLN5):c.339+309T>C	noncoding	Benign
13	76995939	T	G	T76995939G	CLN5	NM_006493.4(CLN5):c.377T>G:p.Leu126Ter	coding	Pathogenic/Likely_pathogenic
13	76995943	T	G	T76995943G	CLN5	NM_006493.4(CLN5):c.381T>G:p.Thr127=	coding	Benign/Likely_benign
13	76995993	G	A	G76995993A	CLN5	NM_006493.4(CLN5):c.431G>A:p.Cys144Tyr	coding	Pathogenic
13	76996010	C	T	C76996010T	CLN5	NM_006493.4(CLN5):c.448C>T:p.Arg150Ter	coding	Pathogenic
13	76996086	G	A	G76996086A	CLN5	NM_006493.4(CLN5):c.524G>A:p.Trp175Ter	coding	Pathogenic/Likely_pathogenic
13	76996109	C	T	C76996109T	CLN5	NM_006493.4(CLN5):c.547C>T:p.Gln183Ter	coding	Pathogenic
13	77000580	G	A	G77000580A	CLN5	NM_006493.4(CLN5):c.688G>A:p.Asp230Asn	coding	Pathogenic
13	77000597	G	A	G77000597A	CLN5	NM_006493.4(CLN5):c.705G>A:p.Val235=	coding	Benign/Likely_benign
13	77000680	G	A	G77000680A	CLN5	NM_006493.4(CLN5):c.788G>A:p.Ser263Asn	coding	Pathogenic
13	77000730	G	T	G77000730T	CLN5	NM_006493.4(CLN5):c.838G>T:p.Gly280Ter	coding	Pathogenic
13	77000848	A	G	A77000848G	CLN5	NM_006493.4(CLN5):c.956A>G:p.Lys319Arg	coding	Benign
13	77000933	T	C	T77000933C	CLN5	NM_006493.4(CLN5):c.1041T>C:p.Pro347=	coding	Benign/Likely_benign
13	77001002	A	G	A77001002G	CLN5	NM_006493.4(CLN5):c.*33A>G	noncoding	Benign/Likely_benign
13	77001124	C	T	C77001124T	CLN5	NM_006493.4(CLN5):c.*155C>T	noncoding	Benign/Likely_benign
13	77001127	C	G	C77001127G	CLN5	NM_006493.4(CLN5):c.*158C>G	noncoding	Benign/Likely_benign
13	77001261	G	A	G77001261A	CLN5	NM_006493.4(CLN5):c.*292G>A	noncoding	Benign/Likely_benign
13	77002101	A	G	A77002101G	CLN5	NM_006493.4(CLN5):c.*1132A>G	noncoding	Benign/Likely_benign
13	77002128	G	A	G77002128A	CLN5	NM_006493.4(CLN5):c.*1159G>A	noncoding	Benign
13	77002248	G	C	G77002248C	CLN5	NM_006493.4(CLN5):c.*1279G>C	noncoding	Benign/Likely_benign
13	77007360	A	G	A77007360G	FBXL3	NM_012158.3(FBXL3):c.1072T>C:p.Cys358Arg	coding	Pathogenic
13	77018626	G	A	G77018626A	FBXL3	NM_012158.3(FBXL3):c.445C>T:p.Arg149Ter	coding	Pathogenic
13	77051811	C	T	C77051811T	MYCBP2	NM_015057.5(MYCBP2):c.13755G>A:p.Gln4585=	coding	Benign
13	77077154	C	T	C77077154T	MYCBP2	NM_015057.5(MYCBP2):c.11718G>A:p.Thr3906=	coding	Benign
13	77082003	C	T	C77082003T	MYCBP2	NM_015057.5(MYCBP2):c.11037-10G>A	noncoding	Benign
13	77095366	T	C	T77095366C	MYCBP2	NM_015057.5(MYCBP2):c.10191A>G:p.Thr3397=	coding	Benign
13	77166522	T	G	T77166522G	MYCBP2	NM_015057.5(MYCBP2):c.6147A>C:p.Thr2049=	coding	Benign
13	77166562	C	T	C77166562T	MYCBP2	NM_015057.5(MYCBP2):c.6115-8G>A	noncoding	Benign
13	77171531	C	A	C77171531A	MYCBP2	NM_015057.5(MYCBP2):c.5755G>T:p.Ala1919Ser	coding	Benign
13	77171538	G	C	G77171538C	MYCBP2	NM_015057.5(MYCBP2):c.5748C>G:p.Val1916=	coding	Benign
13	77181815	C	T	C77181815T	MYCBP2	NM_015057.5(MYCBP2):c.4827G>A:p.Ala1609=	coding	Benign
13	77206787	G	A	G77206787A	MYCBP2	NM_015057.5(MYCBP2):c.3455C>T:p.Ala1152Val	coding	Benign
13	77217964	T	C	T77217964C	MYCBP2	NM_015057.5(MYCBP2):c.2940-7A>G	noncoding	Benign
13	77251194	C	A	C77251194A	MYCBP2	NM_015057.5(MYCBP2):c.2338G>T:p.Ala780Ser	coding	Benign
13	77270067	C	A	C77270067A	MYCBP2	NM_015057.5(MYCBP2):c.1189-4G>T	noncoding	Benign
13	77273516	C	A	C77273516A	MYCBP2	NM_015057.5(MYCBP2):c.901G>T:p.Ala301Ser	coding	Benign
13	77896433	G	A	G77896433A	EDNRB	NM_001122659.3(EDNRB):c.*1767C>T	noncoding	Benign/Likely_benign
13	77901178	T	C	T77901178C	EDNRB	NM_001122659.3(EDNRB):c.831A>G:p.Leu277=	coding	Benign
13	77901181	C	A	C77901181A	EDNRB	NM_001122659.3(EDNRB):c.828G>T:p.Trp276Cys	coding	Pathogenic
13	77903200	G	A	G77903200A	EDNRB	NM_001122659.3(EDNRB):c.757C>T:p.Arg253Ter	coding	Pathogenic
13	77903339	C	T	C77903339T	EDNRB	NM_001122659.3(EDNRB):c.618G>A:p.Trp206Ter	coding	Pathogenic
13	77903356	G	A	G77903356A	EDNRB	NM_001122659.3(EDNRB):c.601C>T:p.Arg201Ter	coding	Pathogenic
13	77903530	G	A	G77903530A	EDNRB	NM_001122659.3(EDNRB):c.561C>T:p.Ile187=	coding	Benign/Likely_benign
13	77903539	A	G	A77903539G	EDNRB	NM_001122659.3(EDNRB):c.552T>C:p.Ser184=	coding	Benign
13	77903543	G	C	G77903543C	EDNRB	NM_001122659.3(EDNRB):c.548C>G:p.Ala183Gly	coding	Pathogenic
13	77918268	G	T	G77918268T	EDNRB	NM_001122659.3(EDNRB):c.306C>A:p.Tyr102Ter	coding	Pathogenic
13	77918517	G	T	G77918517T	EDNRB	NM_001122659.3(EDNRB):c.57C>A:p.Cys19Ter	coding	Pathogenic/Likely_pathogenic
13	77919577	C	A	C77919577A	EDNRB	NM_000115.5(EDNRB):c.-51-953G>T	coding	Benign
13	79358413	T	C	T79358413C	RBM26	NM_001366735.2(RBM26):c.1550A>G:p.Asn517Ser	coding	Benign
13	79371937	A	T	A79371937T	RBM26	NM_001366735.2(RBM26):c.328-7T>A	noncoding	Benign
13	83878728	C	T	C83878728T	SLITRK1	NM_052910.2(SLITRK1):c.*689G>A	noncoding	Pathogenic
13	83880520	A	C	A83880520C	SLITRK1	NM_001281503.2(SLITRK1):c.988T>G:p.Ser330Ala	coding	Benign/Likely_benign
13	83880652	G	A	G83880652A	SLITRK1	NM_052910.2(SLITRK1):c.856C>T:p.Leu286=	coding	Benign
13	85794589	T	C	T85794589C	SLITRK6	NM_032229.3(SLITRK6):c.1920A>G:p.Lys640=	coding	Benign/Likely_benign
13	85794985	C	T	C85794985T	SLITRK6	NM_032229.3(SLITRK6):c.1524G>A:p.Leu508=	coding	Benign
13	85795191	A	C	A85795191C	SLITRK6	NM_032229.3(SLITRK6):c.1318T>G:p.Leu440Val	coding	Benign
13	85795268	T	C	T85795268C	SLITRK6	NM_032229.3(SLITRK6):c.1241A>G:p.Gln414Arg	coding	Benign
13	85795269	G	A	G85795269A	SLITRK6	NM_032229.3(SLITRK6):c.1240C>T:p.Gln414Ter	coding	Pathogenic
13	85795619	G	T	G85795619T	SLITRK6	NM_032229.3(SLITRK6):c.890C>A:p.Ser297Ter	coding	Pathogenic
13	85795917	A	G	A85795917G	SLITRK6	NM_032229.3(SLITRK6):c.592T>C:p.Leu198=	coding	Benign
13	85795968	G	A	G85795968A	SLITRK6	NM_032229.3(SLITRK6):c.541C>T:p.Arg181Ter	coding	Pathogenic
13	85796182	A	G	A85796182G	SLITRK6	NM_032229.3(SLITRK6):c.327T>C:p.Asn109=	coding	Benign
13	85796287	G	A	G85796287A	SLITRK6	NM_032229.3(SLITRK6):c.222C>T:p.Asn74=	coding	Benign
13	85796436	G	A	G85796436A	SLITRK6	NM_032229.3(SLITRK6):c.73C>T:p.Leu25Phe	coding	Benign/Likely_benign
13	85796470	A	T	A85796470T	SLITRK6	NM_032229.3(SLITRK6):c.39T>A:p.Leu13=	coding	Benign
13	85796506	C	G	C85796506G	SLITRK6	NM_032229.3(SLITRK6):c.3G>C:p.Met1Ile	coding	Pathogenic
13	87676687	G	C	G87676687C	SLITRK5	NM_015567.1(SLITRK5):c.1299G>C:p.Thr433=	coding	Benign
13	87677491	C	T	C87677491T	SLITRK5	NM_015567.1(SLITRK5):c.2103C>T:p.Ser701=	coding	Benign
13	91399199	G	A	G91399199A	GPC5	NM_004466.6(GPC5):c.153G>A:p.Ser51=	coding	Benign
13	91693344	A	G	A91693344G	GPC5	NM_004466.6(GPC5):c.483A>G:p.Glu161=	coding	Benign
13	91693852	C	T	C91693852T	GPC5	NM_004466.6(GPC5):c.991C>T:p.His331Tyr	coding	Benign
13	93226834	G	A	G93226834A	GPC6	NM_005708.5(GPC6):c.-623G>A	noncoding	Benign
13	93227137	C	A	C93227137A	GPC6	NM_005708.5(GPC6):c.-320C>A	noncoding	Benign
13	93227320	C	T	C93227320T	GPC6	NM_005708.5(GPC6):c.-137C>T	noncoding	Benign
13	93227520	G	A	G93227520A	GPC6	NM_005708.5(GPC6):c.64G>A:p.Gly22Arg	coding	Benign
13	93545291	A	G	A93545291G	GPC6	NM_005708.5(GPC6):c.189A>G:p.Glu63=	coding	Benign
13	93545358	C	T	C93545358T	GPC6	NM_005708.5(GPC6):c.256C>T:p.Leu86Phe	coding	Benign
13	93830534	C	T	C93830534T	GPC6	NM_005708.5(GPC6):c.700C>T:p.Arg234Ter	coding	Pathogenic
13	94286462	A	T	A94286462T	GPC6	NM_005708.5(GPC6):c.991A>T:p.Met331Leu	coding	Benign
13	94382495	G	A	G94382495A	GPC6	NM_005708.5(GPC6):c.1234G>A:p.Val412Met	coding	Benign
13	94382509	G	A	G94382509A	GPC6	NM_005708.5(GPC6):c.1248G>A:p.Thr416=	coding	Benign
13	94382533	C	T	C94382533T	GPC6	NM_005708.5(GPC6):c.1272C>T:p.Asn424=	coding	Benign
13	94403472	G	A	G94403472A	GPC6	NM_005708.5(GPC6):c.*255G>A	noncoding	Benign
13	94403488	T	A	T94403488A	GPC6	NM_005708.5(GPC6):c.*271T>A	noncoding	Benign
13	94403555	A	C	A94403555C	GPC6	NM_005708.5(GPC6):c.*338A>C	noncoding	Benign
13	94403602	G	A	G94403602A	GPC6	NM_005708.5(GPC6):c.*385G>A	noncoding	Benign
13	94403889	A	G	A94403889G	GPC6	NM_005708.5(GPC6):c.*672A>G	noncoding	Benign
13	94404311	T	A	T94404311A	GPC6	NM_005708.5(GPC6):c.*1094T>A	noncoding	Benign
13	94404514	C	G	C94404514G	GPC6	NM_005708.5(GPC6):c.*1297C>G	noncoding	Benign
13	94404514	C	T	C94404514T	GPC6	NM_005708.5(GPC6):c.*1297C>T	noncoding	Benign
13	94404882	C	A	C94404882A	GPC6	NM_005708.5(GPC6):c.*1665C>A	noncoding	Benign
13	94404892	C	T	C94404892T	GPC6	NM_005708.5(GPC6):c.*1675C>T	noncoding	Benign
13	94405248	A	C	A94405248C	GPC6	NM_005708.5(GPC6):c.*2031A>C	noncoding	Benign
13	94405624	A	T	A94405624T	GPC6	NM_005708.5(GPC6):c.*2407A>T	noncoding	Benign
13	94405682	A	G	A94405682G	GPC6	NM_005708.5(GPC6):c.*2465A>G	noncoding	Benign
13	94405822	C	A	C94405822A	GPC6	NM_005708.5(GPC6):c.*2605C>A	noncoding	Benign
13	94406910	A	G	A94406910G	GPC6	NM_005708.5(GPC6):c.*3693A>G	noncoding	Benign
13	94406940	T	G	T94406940G	GPC6	NM_005708.5(GPC6):c.*3723T>G	noncoding	Benign
13	94407050	G	C	G94407050C	GPC6	NM_005708.5(GPC6):c.*3833G>C	noncoding	Benign
13	94407283	A	C	A94407283C	GPC6	NM_005708.5(GPC6):c.*4066A>C	noncoding	Benign
13	94407399	C	A	C94407399A	GPC6	NM_005708.5(GPC6):c.*4182C>A	noncoding	Benign
13	94407764	G	T	G94407764T	GPC6	NM_005708.5(GPC6):c.*4547G>T	noncoding	Benign
13	94407873	T	A	T94407873A	GPC6	NM_005708.5(GPC6):c.*4656T>A	noncoding	Benign
13	94465672	C	T	C94465672T	DCT	NM_001922.5(DCT):c.824G>A:p.Arg275Gln	coding	Benign
13	94468999	G	A	G94468999A	DCT	NM_001922.5(DCT):c.342C>T:p.Thr114=	coding	Benign
13	94576404	T	C	T94576404C	TGDS	NM_014305.4(TGDS):c.892A>G:p.Asn298Asp	coding	Pathogenic
13	94578130	A	G	A94578130G	TGDS	NM_014305.4(TGDS):c.700T>C:p.Tyr234His	coding	Pathogenic
13	94590868	C	A	C94590868A	TGDS	NM_014305.4(TGDS):c.298G>T:p.Ala100Ser	coding	Pathogenic
13	94590869	G	A	G94590869A	TGDS	NM_014305.4(TGDS):c.297C>T:p.Ala99=	coding	Benign
13	94590872	A	C	A94590872C	TGDS	NM_014305.4(TGDS):c.294T>G:p.Phe98Leu	coding	Pathogenic
13	94590897	T	C	T94590897C	TGDS	NM_014305.4(TGDS):c.269A>G:p.Glu90Gly	coding	Pathogenic
13	94596094	C	T	C94596094T	TGDS	NM_014305.4(TGDS):c.43G>A:p.Gly15Ser	coding	Benign
13	94596125	C	T	C94596125T	TGDS	NM_014305.4(TGDS):c.12G>A:p.Ala4=	coding	Benign
13	95053126	G	A	G95053126A	ABCC4	NM_005845.4(ABCC4):c.3425C>T:p.Thr1142Met	coding	Benign
13	95062815	G	T	G95062815T	ABCC4	NM_005845.4(ABCC4):c.3255C>A:p.Ile1085=	coding	Benign
13	95083230	T	C	T95083230C	ABCC4	NM_005845.4(ABCC4):c.2596A>G:p.Ile866Val	coding	Benign
13	95163200	T	C	T95163200C	ABCC4	NM_005845.4(ABCC4):c.2230A>G:p.Met744Val	coding	Benign
13	95164453	G	A	G95164453A	ABCC4	NM_005845.4(ABCC4):c.2100C>T:p.Ala700=	coding	Benign
13	95166374	T	C	T95166374C	ABCC4	NM_005845.4(ABCC4):c.1825-7A>G	noncoding	Benign
13	97990441	G	A	G97990441A	IPO5	NM_002271.6(IPO5):c.573G>A:p.Thr191=	coding	Benign
13	98018634	G	A	G98018634A	IPO5	NM_002271.6(IPO5):c.2766G>A:p.Arg922=	coding	Benign
13	98439187	T	C	T98439187C	FARP1	NM_005766.4(FARP1):c.2424T>C:p.Tyr808=	coding	Benign
13	98440189	C	T	C98440189T	FARP1	NM_005766.4(FARP1):c.2583C>T:p.Ser861=	coding	Benign
13	98702500	T	C	T98702500C	SLC15A1	NM_005073.4(SLC15A1):c.1446A>G:p.Glu482=	coding	Benign
13	98706224	G	A	G98706224A	SLC15A1	NM_005073.4(SLC15A1):c.1179C>T:p.Asn393=	coding	Benign
13	98706263	A	G	A98706263G	SLC15A1	NM_005073.4(SLC15A1):c.1150-10T>C	noncoding	Benign
13	98723913	C	T	C98723913T	SLC15A1	NM_005073.4(SLC15A1):c.364G>A:p.Val122Met	coding	Benign
13	98724019	C	T	C98724019T	SLC15A1	NM_005073.4(SLC15A1):c.258G>A:p.Ser86=	coding	Benign
13	98797235	G	A	G98797235A	DOCK9	NM_015296.3(DOCK9):c.6081C>T:p.Cys2027=	coding	Benign
13	98824401	G	A	G98824401A	DOCK9	NM_015296.3(DOCK9):c.5130C>T:p.Asn1710=	coding	Benign
13	98837503	C	T	C98837503T	DOCK9	NM_015296.3(DOCK9):c.4239G>A:p.Leu1413=	coding	Benign
13	98881990	T	C	T98881990C	DOCK9	NM_015296.3(DOCK9):c.2580A>G:p.Glu860=	coding	Benign
13	98902367	G	A	G98902367A	DOCK9	NM_015296.3(DOCK9):c.1304C>T:p.Ala435Val	coding	Benign
13	99238471	C	T	C99238471T	UBAC2	NM_001144072.2(UBAC2):c.76C>T:p.Leu26Phe	coding	Benign
13	99340506	C	T	C99340506T	UBAC2	NM_001144072.2(UBAC2):c.748C>T:p.Leu250=	coding	Benign
13	99971273	T	A	T99971273A	ZIC5	NM_033132.4(ZIC5):c.403A>T:p.Ser135Cys	coding	Benign
13	99982277	G	A	G99982277A	ZIC2	NM_007129.5(ZIC2):c.213G>A:p.Pro71=	coding	Benign
13	99982592	C	T	C99982592T	ZIC2	NM_007129.5(ZIC2):c.528C>T:p.Asn176=	coding	Benign
13	99982610	G	T	G99982610T	ZIC2	NM_007129.5(ZIC2):c.546G>T:p.Gly182=	coding	Benign
13	99982701	C	T	C99982701T	ZIC2	NM_007129.5(ZIC2):c.637C>T:p.Gln213Ter	coding	Pathogenic
13	99982857	C	T	C99982857T	ZIC2	NM_007129.5(ZIC2):c.793C>T:p.Gln265Ter	coding	Pathogenic
13	99983123	C	T	C99983123T	ZIC2	NM_007129.5(ZIC2):c.1059C>T:p.His353=	coding	Benign
13	99983352	G	A	G99983352A	ZIC2	NM_007129.5(ZIC2):c.1075+213G>A	noncoding	Benign
13	99984944	A	T	A99984944T	ZIC2	NM_007129.5(ZIC2):c.1076-2A>T	noncoding	Pathogenic
13	99985127	G	A	G99985127A	ZIC2	NM_007129.5(ZIC2):c.1239+18G>A	noncoding	Benign
13	99985313	T	G	T99985313G	ZIC2	NM_007129.5(ZIC2):c.1240-10T>G	noncoding	Benign
13	99985397	G	A	G99985397A	ZIC2	NM_007129.5(ZIC2):c.1314G>A:p.Pro438=	coding	Benign
13	99985409	C	T	C99985409T	ZIC2	NM_007129.5(ZIC2):c.1326C>T:p.Ser442=	coding	Benign
13	99985580	C	G	C99985580G	ZIC2	NM_007129.5(ZIC2):c.1497C>G:p.Gly499=	coding	Benign
13	99985637	G	A	G99985637A	ZIC2	NM_007129.5(ZIC2):c.1554G>A:p.Gly518=	coding	Benign/Likely_benign
13	100089122	T	A	T100089122A	PCCA	NM_000282.4(PCCA):c.2T>A:p.Met1Lys	coding	Pathogenic
13	100089144	A	G	A100089144G	PCCA	NM_000282.4(PCCA):c.24A>G:p.Thr8=	coding	Benign/Likely_benign
13	100089156	C	T	C100089156T	PCCA	NM_000282.4(PCCA):c.36C>T:p.Val12=	coding	Benign
13	100089163	G	T	G100089163T	PCCA	NM_000282.4(PCCA):c.43G>T:p.Gly15Ter	coding	Pathogenic
13	100089226	G	A	G100089226A	PCCA	NM_000282.4(PCCA):c.105+1G>A	coding	Pathogenic/Likely_pathogenic
13	100089498	G	A	G100089498A	PCCA	NM_000282.4(PCCA):c.105+273G>A	noncoding	Benign
13	100111536	T	C	T100111536C	PCCA	NM_000282.4(PCCA):c.184-305T>C	noncoding	Benign
13	100111840	G	A	G100111840A	PCCA	NM_000282.4(PCCA):c.184-1G>A	noncoding	Pathogenic
13	100111886	C	T	C100111886T	PCCA	NM_000282.4(PCCA):c.229C>T:p.Arg77Trp	coding	Pathogenic/Likely_pathogenic
13	100111889	G	C	G100111889C	PCCA	NM_000282.4(PCCA):c.231+1G>C	coding	Pathogenic
13	100111992	G	A	G100111992A	PCCA	NM_000282.4(PCCA):c.232-1G>A	noncoding	Pathogenic
13	100112045	A	G	A100112045G	PCCA	NM_000282.4(PCCA):c.284A>G:p.Asp95Gly	coding	Pathogenic
13	100112361	T	C	T100112361C	PCCA	NM_000282.4(PCCA):c.300+300T>C	noncoding	Benign
13	100155090	G	A	G100155090A	PCCA	NM_000282.4(PCCA):c.412G>A:p.Ala138Thr	coding	Pathogenic
13	100155180	A	G	A100155180G	PCCA	NM_000282.4(PCCA):c.414+88A>G	noncoding	Benign
13	100155196	C	T	C100155196T	PCCA	NM_000282.4(PCCA):c.414+104C>T	noncoding	Benign
13	100155368	G	T	G100155368T	PCCA	NM_000282.4(PCCA):c.414+276G>T	noncoding	Benign
13	100157155	T	A	T100157155A	PCCA	NM_000282.4(PCCA):c.415-132T>A	noncoding	Benign
13	100157285	A	C	A100157285C	PCCA	NM_000282.4(PCCA):c.415-2A>C	noncoding	Pathogenic
13	100157297	G	A	G100157297A	PCCA	NM_000282.4(PCCA):c.425G>A:p.Gly142Asp	coding	Pathogenic/Likely_pathogenic
13	100157303	G	T	G100157303T	PCCA	NM_000282.4(PCCA):c.431G>T:p.Gly144Val	coding	Pathogenic
13	100157323	G	T	G100157323T	PCCA	NM_000282.4(PCCA):c.451G>T:p.Glu151Ter	coding	Pathogenic
13	100157339	T	A	T100157339A	PCCA	NM_000282.4(PCCA):c.467T>A:p.Leu156Ter	coding	Pathogenic
13	100157488	G	T	G100157488T	PCCA	NM_000282.4(PCCA):c.468+148G>T	noncoding	Benign
13	100157551	A	G	A100157551G	PCCA	NM_000282.4(PCCA):c.468+211A>G	noncoding	Benign
13	100209008	C	T	C100209008T	PCCA	NM_000282.4(PCCA):c.469-324C>T	noncoding	Benign
13	100209354	T	C	T100209354C	PCCA	NM_000282.4(PCCA):c.491T>C:p.Ile164Thr	coding	Pathogenic
13	100209411	T	G	T100209411G	PCCA	NM_000282.4(PCCA):c.548T>G:p.Leu183Ter	coding	Pathogenic
13	100209419	A	T	A100209419T	PCCA	NM_000282.4(PCCA):c.556A>T:p.Lys186Ter	coding	Pathogenic
13	100209464	G	T	G100209464T	PCCA	NM_000282.4(PCCA):c.600+1G>T	coding	Pathogenic
13	100235868	A	G	A100235868G	PCCA	NM_000282.4(PCCA):c.627A>G:p.Ala209=	coding	Benign
13	100262746	C	G	C100262746G	PCCA	NM_000282.4(PCCA):c.734C>G:p.Ser245Ter	coding	Pathogenic
13	100268731	A	G	A100268731G	PCCA	NM_000282.4(PCCA):c.862A>G:p.Arg288Gly	coding	Pathogenic
13	100268731	A	T	A100268731T	PCCA	NM_000282.4(PCCA):c.862A>T:p.Arg288Ter	coding	Pathogenic
13	100268732	G	A	G100268732A	PCCA	NM_000282.4(PCCA):c.863G>A:p.Arg288Lys	coding	Pathogenic/Likely_pathogenic
13	100268802	A	G	A100268802G	PCCA	NM_000282.4(PCCA):c.914+19A>G	noncoding	Benign
13	100273218	C	T	C100273218T	PCCA	NM_000282.4(PCCA):c.937C>T:p.Arg313Ter	coding	Pathogenic
13	100301512	T	A	T100301512A	PCCA	NM_000282.4(PCCA):c.1118T>A:p.Met373Lys	coding	Pathogenic
13	100301575	G	A	G100301575A	PCCA	NM_000282.4(PCCA):c.1181G>A:p.Trp394Ter	coding	Pathogenic
13	100301606	A	G	A100301606G	PCCA	NM_000282.4(PCCA):c.1209+3A>G	noncoding	Pathogenic/Likely_pathogenic
13	100302971	G	A	G100302971A	PCCA	NM_000282.4(PCCA):c.1257G>A:p.Gln419=	coding	Benign/Likely_benign
13	100302999	G	A	G100302999A	PCCA	NM_000282.4(PCCA):c.1284+1G>A	coding	Pathogenic/Likely_pathogenic
13	100303014	G	A	G100303014A	PCCA	NM_000282.4(PCCA):c.1284+16G>A	noncoding	Benign
13	100307195	C	T	C100307195T	PCCA	NM_000282.4(PCCA):c.1288C>T:p.Arg430Ter	coding	Pathogenic
13	100309902	A	G	A100309902G	PCCA	NM_000282.4(PCCA):c.1423A>G:p.Ile475Val	coding	Benign/Likely_benign
13	100309905	C	T	C100309905T	PCCA	NM_000282.4(PCCA):c.1426C>T:p.Arg476Ter	coding	Pathogenic/Likely_pathogenic
13	100309915	A	G	A100309915G	PCCA	NM_000282.4(PCCA):c.1429+7A>G	noncoding	Benign/Likely_benign
13	100368441	A	G	A100368441G	PCCA	NM_000282.4(PCCA):c.1644-31A>G	noncoding	Benign
13	100368513	C	G	C100368513G	PCCA	NM_000282.4(PCCA):c.1685C>G:p.Ser562Ter	coding	Pathogenic
13	100368573	C	T	C100368573T	PCCA	NM_000282.4(PCCA):c.1745C>T:p.Ser582Leu	coding	Benign
13	100368672	T	A	T100368672A	PCCA	NM_000282.4(PCCA):c.1746+98T>A	noncoding	Benign
13	100425472	C	T	C100425472T	PCCA	NM_000282.4(PCCA):c.1747-161C>T	noncoding	Benign
13	100425520	G	A	G100425520A	PCCA	NM_000282.4(PCCA):c.1747-113G>A	noncoding	Benign
13	100425632	G	C	G100425632C	PCCA	NM_000282.4(PCCA):c.1747-1G>C	noncoding	Pathogenic/Likely_pathogenic
13	100425674	G	A	G100425674A	PCCA	NM_000282.4(PCCA):c.1788G>A:p.Trp596Ter	coding	Pathogenic/Likely_pathogenic
13	100425732	G	A	G100425732A	PCCA	NM_000282.4(PCCA):c.1845+1G>A	coding	Pathogenic
13	100449148	C	G	C100449148G	PCCA	NM_000282.4(PCCA):c.1846-104C>G	noncoding	Benign
13	100449243	G	T	G100449243T	PCCA	NM_000282.4(PCCA):c.1846-9G>T	noncoding	Benign
13	100449261	C	T	C100449261T	PCCA	NM_000282.4(PCCA):c.1855C>T:p.Arg619Ter	coding	Pathogenic/Likely_pathogenic
13	100515529	G	A	G100515529A	PCCA	NM_000282.4(PCCA):c.2002G>A:p.Gly668Arg	coding	Pathogenic/Likely_pathogenic
13	100515739	C	T	C100515739T	PCCA	NM_000282.4(PCCA):c.2040+172C>T	noncoding	Benign
13	100515809	G	T	G100515809T	PCCA	NM_000282.4(PCCA):c.2040+242G>T	noncoding	Benign
13	100527673	A	G	A100527673G	PCCA	NM_000282.4(PCCA):c.2041-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	100527696	T	C	T100527696C	PCCA	NM_000282.4(PCCA):c.2062T>C:p.Cys688Arg	coding	Pathogenic
13	100527943	G	C	G100527943C	PCCA	NM_000282.4(PCCA):c.2118+191G>C	noncoding	Benign
13	100529894	A	G	A100529894G	PCCA	NM_000282.4(PCCA):c.2119-204A>G	noncoding	Benign
13	100530055	T	C	T100530055C	PCCA	NM_000282.4(PCCA):c.2119-43T>C	noncoding	Benign
13	100530096	A	G	A100530096G	PCCA	NM_000282.4(PCCA):c.2119-2A>G	noncoding	Pathogenic
13	101057985	G	A	G101057985A	NALCN	NM_052867.4(NALCN):c.4977C>T:p.Asp1659=	coding	Benign/Likely_benign
13	101065427	G	A	G101065427A	NALCN	NM_052867.4(NALCN):c.4581C>T:p.Asp1527=	coding	Benign
13	101067948	T	G	T101067948G	NALCN	NM_052867.4(NALCN):c.4416A>C:p.Ile1472=	coding	Benign
13	101068026	A	C	A101068026C	NALCN	NM_052867.4(NALCN):c.4338T>G:p.Ile1446Met	coding	Pathogenic
13	101068031	T	A	T101068031A	NALCN	NM_052867.4(NALCN):c.4333A>T:p.Ile1445Leu	coding	Pathogenic
13	101068677	T	C	T101068677C	NALCN	NM_052867.4(NALCN):c.4330+18A>G	noncoding	Benign
13	101068744	G	T	G101068744T	NALCN	NM_052867.4(NALCN):c.4281C>A:p.Phe1427Leu	coding	Pathogenic
13	101068789	G	T	G101068789T	NALCN	NM_052867.4(NALCN):c.4236C>A:p.Tyr1412Ter	coding	Pathogenic
13	101073583	C	T	C101073583T	NALCN	NM_052867.4(NALCN):c.4197+1G>A	noncoding	Pathogenic
13	101073631	G	A	G101073631A	NALCN	NM_052867.4(NALCN):c.4150C>T:p.Arg1384Ter	coding	Pathogenic
13	101074512	A	G	A101074512G	NALCN	NM_052867.4(NALCN):c.4103+2T>C	noncoding	Pathogenic
13	101081552	C	A	C101081552A	NALCN	NM_052867.4(NALCN):c.3860G>T:p.Trp1287Leu	coding	Pathogenic
13	101081651	A	C	A101081651C	NALCN	NM_052867.4(NALCN):c.3766-5T>G	noncoding	Benign
13	101082839	T	C	T101082839C	NALCN	NM_052867.4(NALCN):c.3735A>G:p.Ser1245=	coding	Benign
13	101082860	G	A	G101082860A	NALCN	NM_052867.4(NALCN):c.3714C>T:p.Thr1238=	coding	Benign
13	101083724	A	G	A101083724G	NALCN	NM_052867.4(NALCN):c.3570T>C:p.Leu1190=	coding	Benign
13	101083738	G	A	G101083738A	NALCN	NM_052867.4(NALCN):c.3556C>T:p.Gln1186Ter	coding	Pathogenic
13	101083752	C	T	C101083752T	NALCN	NM_052867.4(NALCN):c.3542G>A:p.Arg1181Gln	coding	Pathogenic
13	101083801	T	G	T101083801G	NALCN	NM_052867.4(NALCN):c.3493A>C:p.Thr1165Pro	coding	Pathogenic
13	101083806	T	C	T101083806C	NALCN	NM_052867.4(NALCN):c.3490-2A>G	noncoding	Pathogenic
13	101089704	G	T	G101089704T	NALCN	NM_052867.4(NALCN):c.3448C>A:p.Leu1150Ile	coding	Pathogenic
13	101089846	C	T	C101089846T	NALCN	NM_052867.4(NALCN):c.3390G>A:p.Pro1130=	coding	Pathogenic
13	101089970	C	T	C101089970T	NALCN	NM_052867.4(NALCN):c.3270-4G>A	noncoding	Benign
13	101095574	C	T	C101095574T	NALCN	NM_052867.4(NALCN):c.3269G>A:p.Trp1090Ter	coding	Pathogenic
13	101095633	G	A	G101095633A	NALCN	NM_052867.4(NALCN):c.3210C>T:p.Asn1070=	coding	Benign
13	101100808	G	A	G101100808A	NALCN	NM_052867.4(NALCN):c.3138C>T:p.Cys1046=	coding	Benign
13	101100887	A	G	A101100887G	NALCN	NM_052867.4(NALCN):c.3059T>C:p.Val1020Ala	coding	Pathogenic
13	101103179	A	G	A101103179G	NALCN	NM_052867.4(NALCN):c.3050T>C:p.Ile1017Thr	coding	Pathogenic
13	101103207	G	A	G101103207A	NALCN	NM_052867.4(NALCN):c.3022C>T:p.Arg1008Ter	coding	Pathogenic
13	101103212	A	G	A101103212G	NALCN	NM_052867.4(NALCN):c.3017T>C:p.Val1006Ala	coding	Pathogenic
13	101104325	G	A	G101104325A	NALCN	NM_052867.4(NALCN):c.2859C>T:p.Phe953=	coding	Benign
13	101104660	A	C	A101104660C	NALCN	NM_052867.4(NALCN):c.2637-10T>G	noncoding	Benign
13	101104938	G	A	G101104938A	NALCN	NM_052867.4(NALCN):c.2592C>T:p.Asp864=	coding	Benign
13	101107503	G	A	G101107503A	NALCN	NM_052867.4(NALCN):c.2563C>T:p.Arg855Ter	coding	Pathogenic/Likely_pathogenic
13	101107546	G	A	G101107546A	NALCN	NM_052867.4(NALCN):c.2520C>T:p.Val840=	coding	Benign
13	101107613	G	C	G101107613C	NALCN	NM_052867.4(NALCN):c.2457-4C>G	noncoding	Benign/Likely_benign
13	101110678	G	A	G101110678A	NALCN	NM_052867.4(NALCN):c.2305C>T:p.His769Tyr	coding	Benign
13	101111178	G	A	G101111178A	NALCN	NM_052867.4(NALCN):c.2241C>T:p.Pro747=	coding	Benign/Likely_benign
13	101111216	G	A	G101111216A	NALCN	NM_052867.4(NALCN):c.2203C>T:p.Arg735Ter	coding	Pathogenic
13	101124603	G	A	G101124603A	NALCN	NM_052867.4(NALCN):c.2192+5C>T	noncoding	Benign
13	101124628	G	A	G101124628A	NALCN	NM_052867.4(NALCN):c.2172C>T:p.Thr724=	coding	Benign
13	101143071	A	G	A101143071G	NALCN	NM_052867.4(NALCN):c.2118+9T>C	noncoding	Benign
13	101143190	G	A	G101143190A	NALCN	NM_052867.4(NALCN):c.2008C>T:p.Gln670Ter	coding	Pathogenic
13	101144812	G	A	G101144812A	NALCN	NM_052867.4(NALCN):c.1924C>T:p.Gln642Ter	coding	Pathogenic
13	101176303	T	C	T101176303C	NALCN	NM_052867.4(NALCN):c.1836A>G:p.Lys612=	coding	Benign
13	101176363	A	C	A101176363C	NALCN	NM_052867.4(NALCN):c.1776T>G:p.Ser592Arg	coding	Pathogenic
13	101176371	G	A	G101176371A	NALCN	NM_052867.4(NALCN):c.1768C>T:p.Leu590Phe	coding	Pathogenic
13	101191948	T	C	T101191948C	NALCN	NM_052867.4(NALCN):c.1733A>G:p.Tyr578Cys	coding	Pathogenic/Likely_pathogenic
13	101191948	T	G	T101191948G	NALCN	NM_052867.4(NALCN):c.1733A>C:p.Tyr578Ser	coding	Pathogenic
13	101192042	T	C	T101192042C	NALCN	NM_052867.4(NALCN):c.1639A>G:p.Met547Val	coding	Pathogenic
13	101229396	C	T	C101229396T	NALCN	NM_052867.4(NALCN):c.1623G>A:p.Pro541=	coding	Benign
13	101229426	G	A	G101229426A	NALCN	NM_052867.4(NALCN):c.1593C>T:p.Val531=	coding	Benign
13	101229481	G	T	G101229481T	NALCN	NM_052867.4(NALCN):c.1538C>A:p.Thr513Asn	coding	Pathogenic
13	101229485	A	C	A101229485C	NALCN	NM_052867.4(NALCN):c.1534T>G:p.Phe512Val	coding	Pathogenic
13	101229493	A	G	A101229493G	NALCN	NM_052867.4(NALCN):c.1526T>C:p.Leu509Ser	coding	Pathogenic
13	101237754	C	T	C101237754T	NALCN	NM_052867.4(NALCN):c.1434+1G>A	noncoding	Pathogenic
13	101258584	C	T	C101258584T	NALCN	NM_052867.4(NALCN):c.1135-10G>A	noncoding	Benign
13	101292058	C	T	C101292058T	NALCN	NM_052867.4(NALCN):c.979G>A:p.Glu327Lys	coding	Pathogenic
13	101292072	A	G	A101292072G	NALCN	NM_052867.4(NALCN):c.965T>C:p.Ile322Thr	coding	Pathogenic
13	101292228	A	C	A101292228C	NALCN	NM_052867.4(NALCN):c.938T>G:p.Val313Gly	coding	Pathogenic
13	101292232	G	T	G101292232T	NALCN	NM_052867.4(NALCN):c.934C>A:p.Leu312Ile	coding	Pathogenic
13	101376814	T	G	T101376814G	NALCN	NM_052867.4(NALCN):c.530A>C:p.Gln177Pro	coding	Pathogenic
13	101376910	C	T	C101376910T	NALCN	NM_052867.4(NALCN):c.515+7G>A	noncoding	Benign
13	101378624	C	T	C101378624T	NALCN	NM_052867.4(NALCN):c.321G>A:p.Trp107Ter	coding	Pathogenic
13	101378639	A	C	A101378639C	NALCN	NM_052867.4(NALCN):c.306T>G:p.Tyr102Ter	coding	Pathogenic
13	101454087	G	C	G101454087C	ITGBL1	NM_004791.3(ITGBL1):c.303G>C:p.Gly101=	coding	Benign
13	101567699	G	A	G101567699A	ITGBL1	NM_004791.3(ITGBL1):c.317G>A:p.Gly106Asp	coding	Benign
13	101706825	C	T	C101706825T	ITGBL1	NM_004791.3(ITGBL1):c.1202C>T:p.Pro401Leu	coding	Benign
13	101706826	G	A	G101706826A	ITGBL1	NM_004791.3(ITGBL1):c.1203G>A:p.Pro401=	coding	Benign
13	101721213	A	T	A101721213T	FGF14	NM_004115.3(FGF14):c.*1618T>A	noncoding	Benign
13	101721219	C	A	C101721219A	FGF14	NM_004115.3(FGF14):c.*1612G>T	noncoding	Benign
13	101721768	C	T	C101721768T	FGF14	NM_004115.3(FGF14):c.*1063G>A	noncoding	Benign
13	101722087	G	T	G101722087T	FGF14	NM_004115.3(FGF14):c.*744C>A	noncoding	Benign
13	101722264	C	G	C101722264G	FGF14	NM_004115.3(FGF14):c.*567G>C	noncoding	Benign
13	101722277	C	T	C101722277T	FGF14	NM_004115.3(FGF14):c.*554G>A	noncoding	Benign
13	101722360	T	G	T101722360G	FGF14	NM_004115.3(FGF14):c.*471A>C	noncoding	Benign
13	101722655	G	C	G101722655C	FGF14	NM_004115.3(FGF14):c.*176C>G	noncoding	Benign
13	101722800	C	T	C101722800T	FGF14	NM_004115.3(FGF14):c.*31G>A	noncoding	Benign
13	101722882	C	T	C101722882T	FGF14	NM_004115.3(FGF14):c.693G>A:p.Ala231=	coding	Benign
13	101722939	A	G	A101722939G	FGF14	NM_004115.3(FGF14):c.636T>C:p.His212=	coding	Benign/Likely_benign
13	101722977	G	A	G101722977A	FGF14	NM_004115.3(FGF14):c.608-10C>T	noncoding	Benign
13	101726640	T	A	T101726640A	FGF14	NM_175929.2(FGF14):c.594A>T:p.Ala198=	coding	Benign
13	101726655	C	T	C101726655T	FGF14	NM_175929.2(FGF14):c.579G>A:p.Lys193=	coding	Benign
13	101726690	T	A	T101726690A	FGF14	NM_004115.3(FGF14):c.529A>T:p.Lys177Ter	coding	Pathogenic
13	101726738	A	G	A101726738G	FGF14	NM_004115.3(FGF14):c.481T>C:p.Leu161=	coding	Benign
13	101726751	G	A	G101726751A	FGF14	NM_004115.3(FGF14):c.468C>T:p.Ile156=	coding	Benign
13	101726785	A	G	A101726785G	FGF14	NM_004115.3(FGF14):c.434T>C:p.Phe145Ser	coding	Pathogenic
13	101868760	T	C	T101868760C	FGF14	NM_004115.3(FGF14):c.373A>G:p.Ile125Val	coding	Benign/Likely_benign
13	101916522	C	A	C101916522A	FGF14	NM_004115.3(FGF14):c.124G>T:p.Gly42Cys	coding	Benign/Likely_benign
13	101916523	G	A	G101916523A	FGF14	NM_004115.3(FGF14):c.123C>T:p.Asn41=	coding	Benign/Likely_benign
13	102597159	G	A	G102597159A	TPP2	NM_001330588.2(TPP2):c.121G>A:p.Ala41Thr	coding	Benign
13	102604820	G	A	G102604820A	TPP2	NM_001330588.2(TPP2):c.193G>A:p.Val65Ile	coding	Benign
13	102622922	C	T	C102622922T	TPP2	NM_001330588.2(TPP2):c.666C>T:p.Thr222=	coding	Benign
13	102634107	G	A	G102634107A	TPP2	NM_001330588.2(TPP2):c.1393+9G>A	noncoding	Benign
13	102636248	G	A	G102636248A	TPP2	NM_001330588.2(TPP2):c.1534G>A:p.Val512Ile	coding	Benign
13	102638304	T	C	T102638304C	TPP2	NM_001330588.2(TPP2):c.1902T>C:p.Val634=	coding	Benign
13	102649423	A	G	A102649423G	TPP2	NM_001330588.2(TPP2):c.2889A>G:p.Ala963=	coding	Benign
13	102649496	A	G	A102649496G	TPP2	NM_001330588.2(TPP2):c.2952+10A>G	noncoding	Benign
13	102663672	C	T	C102663672T	TPP2	NM_001330588.2(TPP2):c.3168C>T:p.Asn1056=	coding	Benign
13	102731147	T	C	T102731147C	CCDC168	NM_001146197.3(CCDC168):c.19550A>G:p.Asn6517Ser	coding	Benign
13	102735196	C	T	C102735196T	CCDC168	NM_001146197.3(CCDC168):c.15501G>A:p.Ser5167=	coding	Benign
13	102736177	A	T	A102736177T	CCDC168	NM_001146197.3(CCDC168):c.14520T>A:p.Ser4840=	coding	Benign
13	102736414	T	C	T102736414C	CCDC168	NM_001146197.3(CCDC168):c.14283A>G:p.Val4761=	coding	Benign
13	102736971	A	G	A102736971G	CCDC168	NM_001146197.3(CCDC168):c.13726T>C:p.Cys4576Arg	coding	Benign
13	102737982	C	T	C102737982T	CCDC168	NM_001146197.3(CCDC168):c.12715G>A:p.Glu4239Lys	coding	Benign
13	102744278	C	T	C102744278T	CCDC168	NM_001146197.3(CCDC168):c.6419G>A:p.Arg2140Gln	coding	Benign
13	102746103	C	A	C102746103A	CCDC168	NM_001146197.3(CCDC168):c.4594G>T:p.Gly1532Cys	coding	Benign
13	102746457	G	A	G102746457A	CCDC168	NM_001146197.3(CCDC168):c.4240C>T:p.Leu1414Phe	coding	Benign
13	102746735	T	C	T102746735C	CCDC168	NM_001146197.3(CCDC168):c.3962A>G:p.Lys1321Arg	coding	Benign
13	102758550	C	T	C102758550T	CCDC168	NM_001146197.3(CCDC168):c.258G>A:p.Arg86=	coding	Benign
13	102839742	G	A	G102839742A	BIVM	NM_017693.4(BIVM):c.1389G>A:p.Gly463=	coding	Benign
13	102845848	A	G	A102845848G	ERCC5	NM_000123.3(ERCC5):c.-419A>G	coding	Benign
13	102846025	T	C	T102846025C	ERCC5	NM_000123.3(ERCC5):c.-242T>C	coding	Benign
13	102846067	G	C	G102846067C	ERCC5	NM_000123.3(ERCC5):c.-200G>C	coding	Benign
13	102846193	G	A	G102846193A	ERCC5	NM_000123.3(ERCC5):c.-74G>A	coding	Benign
13	102846195	C	T	C102846195T	ERCC5	NM_000123.3(ERCC5):c.-72C>T	coding	Benign
13	102846349	C	A	C102846349A	ERCC5	NM_001204425.1(BIVM-ERCC5):c.1451-5769C>A	coding	Pathogenic
13	102852167	T	C	T102852167C	ERCC5	NM_000123.3(ERCC5):c.138T>C:p.His46=	coding	Benign
13	102852244	C	A	C102852244A	ERCC5	NM_000123.3(ERCC5):c.215C>A:p.Pro72His	coding	Pathogenic
13	102852300	G	A	G102852300A	ERCC5	NM_000123.3(ERCC5):c.264+7G>A	noncoding	Benign
13	102854313	C	T	C102854313T	ERCC5	NM_000123.3(ERCC5):c.406C>T:p.Gln136Ter	coding	Pathogenic
13	102854336	C	G	C102854336G	ERCC5	NM_000123.3(ERCC5):c.429C>G:p.Leu143=	coding	Benign
13	102854340	G	A	G102854340A	ERCC5	NM_000123.3(ERCC5):c.433G>A:p.Val145Ile	coding	Benign
13	102856110	C	T	C102856110T	ERCC5	NM_000123.3(ERCC5):c.526C>T:p.Gln176Ter	coding	Pathogenic
13	102858386	C	T	C102858386T	ERCC5	NM_000123.3(ERCC5):c.640C>T:p.Arg214Cys	coding	Benign/Likely_benign
13	102858387	G	A	G102858387A	ERCC5	NM_000123.3(ERCC5):c.641G>A:p.Arg214His	coding	Benign
13	102861594	A	G	A102861594G	ERCC5	NM_000123.3(ERCC5):c.760A>G:p.Met254Val	coding	Benign
13	102861601	A	G	A102861601G	ERCC5	NM_000123.3(ERCC5):c.767A>G:p.Gln256Arg	coding	Benign/Likely_benign
13	102861621	C	T	C102861621T	ERCC5	NM_000123.3(ERCC5):c.787C>T:p.Arg263Ter	coding	Pathogenic
13	102862094	C	T	C102862094T	ERCC5	NM_000123.3(ERCC5):c.945C>T:p.His315=	coding	Benign/Likely_benign
13	102862109	C	T	C102862109T	ERCC5	NM_000123.3(ERCC5):c.960C>T:p.Asp320=	coding	Benign/Likely_benign
13	102862589	C	T	C102862589T	ERCC5	NM_000123.3(ERCC5):c.1440C>T:p.His480=	coding	Benign
13	102862712	A	G	A102862712G	ERCC5	NM_000123.3(ERCC5):c.1563A>G:p.Glu521=	coding	Benign/Likely_benign
13	102862735	G	C	G102862735C	ERCC5	NM_000123.3(ERCC5):c.1586G>C:p.Cys529Ser	coding	Benign
13	102863029	C	A	C102863029A	ERCC5	NM_000123.3(ERCC5):c.1880C>A:p.Ala627Glu	coding	Benign/Likely_benign
13	102863075	A	G	A102863075G	ERCC5	NM_000123.3(ERCC5):c.1926A>G:p.Glu642=	coding	Benign/Likely_benign
13	102865686	A	G	A102865686G	ERCC5	NM_000123.4(ERCC5):c.1974A>G:p.Gln658=	coding	Benign
13	102865812	C	A	C102865812A	ERCC5	NM_000123.3(ERCC5):c.2100C>A:p.Leu700=	coding	Benign
13	102866725	G	A	G102866725A	BIVM-ERCC5;ERCC5	NM_000123.4(ERCC5):c.2413G>A:p.Gly805Arg	coding	Pathogenic
13	102866766	G	A	G102866766A	ERCC5	NM_000123.4(ERCC5):c.2454G>A:p.Ala818=	coding	Benign
13	102866769	G	A	G102866769A	ERCC5	NM_000123.4(ERCC5):c.2457G>A:p.Arg819=	coding	Benign
13	102868152	T	C	T102868152C	ERCC5	NM_000123.3(ERCC5):c.2573T>C:p.Leu858Pro	coding	Pathogenic
13	102868215	A	G	A102868215G	ERCC5	NM_000123.3(ERCC5):c.2636A>G:p.Asn879Ser	coding	Benign
13	102872297	C	G	C102872297G	ERCC5	NM_000123.3(ERCC5):c.2778C>G:p.Gly926=	coding	Benign/Likely_benign
13	102872396	A	C	A102872396C	ERCC5	NM_000123.3(ERCC5):c.2877A>C:p.Arg959Ser	coding	Benign
13	102872397	G	T	G102872397T	ERCC5	NM_000123.3(ERCC5):c.2878G>T:p.Glu960Ter	coding	Pathogenic
13	102872412	C	T	C102872412T	ERCC5	NM_000123.3(ERCC5):c.2879+14C>T	noncoding	Benign
13	102873283	G	C	G102873283C	ERCC5	NM_000123.3(ERCC5):c.2904G>C:p.Trp968Cys	coding	Pathogenic
13	102875499	G	C	G102875499C	ERCC5	NM_000123.3(ERCC5):c.3157=:p.Arg1053=	coding	Benign
13	102875519	C	T	C102875519T	ERCC5	NM_000123.3(ERCC5):c.3177C>T:p.Gly1059=	coding	Benign/Likely_benign
13	102875581	G	A	G102875581A	ERCC5	NM_000123.3(ERCC5):c.3239G>A:p.Arg1080Gln	coding	Benign/Likely_benign
13	102875652	G	C	G102875652C	ERCC5	NM_000123.3(ERCC5):c.3310G>C:p.Asp1104His	coding	Benign
13	102875698	C	T	C102875698T	ERCC5	NM_000123.3(ERCC5):c.3356C>T:p.Ala1119Val	coding	Benign/Likely_benign
13	103049322	A	G	A103049322G	SLC10A2	NM_000452.3(SLC10A2):c.886T>C:p.Phe296Leu	coding	Benign
13	103052689	G	A	G103052689A	SLC10A2	NM_000452.3(SLC10A2):c.516C>T:p.Leu172=	coding	Benign/Likely_benign
13	103052694	A	C	A103052694C	SLC10A2	NM_000452.3(SLC10A2):c.511T>G:p.Ser171Ala	coding	Benign
13	103052700	G	A	G103052700A	SLC10A2	NM_000452.3(SLC10A2):c.505C>T:p.Leu169=	coding	Benign
13	103058334	C	T	C103058334T	SLC10A2	NM_000452.3(SLC10A2):c.426G>A:p.Pro142=	coding	Benign
13	103065958	C	T	C103065958T	SLC10A2	NM_000452.3(SLC10A2):c.292G>A:p.Val98Ile	coding	Benign
13	103066060	G	A	G103066060A	SLC10A2	NM_000452.3(SLC10A2):c.190C>T:p.Arg64Trp	coding	Benign
13	105472644	A	T	A105472644T	DAOA	NM_001161814.1(DAOA):c.27A>T:p.Ser9=	coding	Benign
13	105472693	T	C	T105472693C	DAOA	NM_001161814.1(DAOA):c.68+8T>C	noncoding	Benign
13	105490025	C	G	C105490025G	DAOA	NM_001161814.1(DAOA):c.193C>G:p.Gln65Glu	coding	Benign
13	108207452	G	A	G108207452A	LIG4	NM_002312.3(LIG4):c.*1081C>T	noncoding	Benign
13	108207498	C	T	C108207498T	LIG4	NM_002312.3(LIG4):c.*1035G>A	noncoding	Benign
13	108207550	C	T	C108207550T	LIG4	NM_002312.3(LIG4):c.*983G>A	noncoding	Benign
13	108207707	T	A	T108207707A	LIG4	NM_002312.3(LIG4):c.*826A>T	noncoding	Benign
13	108207848	A	G	A108207848G	LIG4	NM_002312.3(LIG4):c.*685T>C	noncoding	Benign
13	108207856	T	C	T108207856C	LIG4	NM_002312.3(LIG4):c.*677A>G	noncoding	Benign
13	108208329	T	C	T108208329C	LIG4	NM_002312.3(LIG4):c.*204A>G	noncoding	Benign
13	108208402	T	A	T108208402A	LIG4	NM_002312.3(LIG4):c.*131A>T	noncoding	Benign
13	108208404	T	C	T108208404C	LIG4	NM_002312.3(LIG4):c.*129A>G	noncoding	Benign
13	108208429	G	C	G108208429C	LIG4	NM_002312.3(LIG4):c.*104C>G	noncoding	Benign
13	108208479	C	T	C108208479T	LIG4	NM_002312.3(LIG4):c.*54G>A	noncoding	Benign
13	108208700	C	T	C108208700T	LIG4	NM_206937.2(LIG4):c.2569G>A:p.Ala857Thr	coding	Benign
13	108208829	G	A	G108208829A	LIG4	NM_206937.2(LIG4):c.2440C>T:p.Arg814Ter	coding	Pathogenic/Likely_pathogenic
13	108209297	T	C	T108209297C	LIG4	NM_206937.2(LIG4):c.1972A>G:p.Ile658Val	coding	Benign
13	108209471	C	T	C108209471T	LIG4	NM_206937.2(LIG4):c.1798G>A:p.Glu600Lys	coding	Benign
13	108209531	G	A	G108209531A	LIG4	NM_206937.2(LIG4):c.1738C>T:p.Arg580Ter	coding	Pathogenic
13	108209565	A	G	A108209565G	LIG4	NM_206937.2(LIG4):c.1704T>C:p.Asp568=	coding	Benign
13	108209863	C	T	C108209863T	LIG4	NM_206937.2(LIG4):c.1406G>A:p.Gly469Glu	coding	Pathogenic
13	108209928	C	A	C108209928A	LIG4	NM_206937.2(LIG4):c.1341G>T:p.Trp447Cys	coding	Pathogenic
13	108210354	A	G	A108210354G	LIG4	NM_206937.2(LIG4):c.915T>C:p.Ser305=	coding	Benign
13	108210436	C	T	C108210436T	LIG4	NM_206937.2(LIG4):c.833G>A:p.Arg278His	coding	Pathogenic
13	108210437	G	C	G108210437C	LIG4	NM_206937.2(LIG4):c.832C>G:p.Arg278Gly	coding	Pathogenic
13	108210462	G	A	G108210462A	LIG4	NM_206937.2(LIG4):c.807C>T:p.Tyr269=	coding	Benign
13	108210756	A	G	A108210756G	LIG4	NM_206937.2(LIG4):c.513T>C:p.Leu171=	coding	Benign/Likely_benign
13	108211089	G	A	G108211089A	LIG4	NM_206937.2(LIG4):c.180C>T:p.Val60=	coding	Benign/Likely_benign
13	108211243	G	A	G108211243A	LIG4	NM_206937.2(LIG4):c.26C>T:p.Thr9Ile	coding	Benign
13	108211261	G	A	G108211261A	LIG4	NM_206937.2(LIG4):c.8C>T:p.Ala3Val	coding	Benign
13	108211275	G	A	G108211275A	LIG4	NM_002312.3(LIG4):c.-7C>T	noncoding	Benign
13	108214705	C	T	C108214705T	LIG4	NM_002312.3(LIG4):c.-196G>A	noncoding	Benign
13	108270208	G	A	G108270208A	TNFSF13B	NM_006573.4(TNFSF13B):c.313G>A:p.Ala105Thr	coding	Benign
13	108303585	T	C	T108303585C	TNFSF13B	NM_006573.4(TNFSF13B):c.726T>C:p.Asn242=	coding	Benign
13	108665911	T	C	T108665911C	MYO16	NM_001198950.3(MYO16):c.54T>C:p.Phe18=	coding	Benign
13	108666022	G	A	G108666022A	MYO16	NM_001198950.3(MYO16):c.165G>A:p.Glu55=	coding	Benign
13	108666025	C	T	C108666025T	MYO16	NM_001198950.3(MYO16):c.168C>T:p.Arg56=	coding	Benign
13	108820362	T	A	T108820362A	MYO16	NM_001198950.3(MYO16):c.893T>A:p.Met298Lys	coding	Benign
13	108823168	C	T	C108823168T	MYO16	NM_001198950.3(MYO16):c.987C>T:p.Ala329=	coding	Benign
13	108823252	C	T	C108823252T	MYO16	NM_001198950.3(MYO16):c.1071C>T:p.His357=	coding	Benign
13	108823254	A	G	A108823254G	MYO16	NM_001198950.3(MYO16):c.1073A>G:p.Asp358Gly	coding	Benign
13	108823262	G	A	G108823262A	MYO16	NM_001198950.3(MYO16):c.1081G>A:p.Val361Ile	coding	Benign
13	108844500	A	G	A108844500G	MYO16	NM_001198950.3(MYO16):c.1248+7A>G	noncoding	Benign
13	108855437	C	T	C108855437T	MYO16	NM_001198950.3(MYO16):c.1249-6C>T	noncoding	Benign
13	108883067	G	C	G108883067C	MYO16	NM_001198950.3(MYO16):c.1434G>C:p.Gln478His	coding	Benign
13	108883178	C	T	C108883178T	MYO16	NM_001198950.3(MYO16):c.1545C>T:p.Phe515=	coding	Benign
13	108888408	A	G	A108888408G	MYO16	NM_001198950.3(MYO16):c.1590A>G:p.Lys530=	coding	Benign
13	108961622	C	T	C108961622T	MYO16	NM_001198950.3(MYO16):c.2121C>T:p.Ser707=	coding	Benign
13	108992369	G	A	G108992369A	MYO16	NM_001198950.3(MYO16):c.2370-7G>A	noncoding	Benign
13	109046987	G	A	G109046987A	MYO16	NM_001198950.3(MYO16):c.2868G>A:p.Met956Ile	coding	Benign
13	109127557	C	T	C109127557T	MYO16	NM_001198950.3(MYO16):c.4051+7C>T	noncoding	Benign
13	109140283	G	A	G109140283A	MYO16	NM_001198950.3(MYO16):c.4071G>A:p.Pro1357=	coding	Benign
13	109140379	G	A	G109140379A	MYO16	NM_001198950.3(MYO16):c.4167G>A:p.Ser1389=	coding	Benign
13	109141081	G	C	G109141081C	MYO16	NM_001198950.3(MYO16):c.4869G>C:p.Pro1623=	coding	Benign
13	109141207	C	A	C109141207A	MYO16	NM_001198950.3(MYO16):c.4995C>A:p.Thr1665=	coding	Benign
13	109141276	G	A	G109141276A	MYO16	NM_001198950.3(MYO16):c.5064G>A:p.Arg1688=	coding	Benign
13	109206627	C	A	C109206627A	MYO16	NM_001198950.3(MYO16):c.5434C>A:p.Leu1812Ile	coding	Benign
13	109206722	C	T	C109206722T	MYO16	NM_001198950.3(MYO16):c.5529C>T:p.His1843=	coding	Benign
13	109782266	C	A	C109782266A	IRS2	NM_003749.3(IRS2):c.3788G>T:p.Gly1263Val	coding	Benign
13	109782961	C	T	C109782961T	IRS2	NM_003749.3(IRS2):c.3093G>A:p.Pro1031=	coding	Benign
13	109783447	G	T	G109783447T	IRS2	NM_003749.3(IRS2):c.2607C>A:p.Pro869=	coding	Benign
13	109784071	G	A	G109784071A	IRS2	NM_003749.3(IRS2):c.1983C>T:p.Ala661=	coding	Benign
13	109784140	G	A	G109784140A	IRS2	NM_003749.3(IRS2):c.1914C>T:p.Gly638=	coding	Benign
13	109784320	C	T	C109784320T	IRS2	NM_003749.3(IRS2):c.1734G>A:p.Leu578=	coding	Benign
13	109785175	C	T	C109785175T	IRS2	NM_003749.3(IRS2):c.879G>A:p.Ala293=	coding	Benign
13	110149349	G	A	G110149349A	COL4A1	NM_001845.6(COL4A1):c.*1014C>T	noncoding	Benign/Likely_benign
13	110149388	T	G	T110149388G	COL4A1	NM_001845.6(COL4A1):c.*975A>C	noncoding	Benign/Likely_benign
13	110149525	A	G	A110149525G	COL4A1	NM_001845.6(COL4A1):c.*838T>C	noncoding	Benign
13	110149597	C	T	C110149597T	COL4A1	NM_001845.6(COL4A1):c.*766G>A	noncoding	Benign/Likely_benign
13	110149754	A	G	A110149754G	COL4A1	NM_001845.6(COL4A1):c.*609T>C	noncoding	Benign/Likely_benign
13	110149776	G	T	G110149776T	COL4A1	NM_001845.6(COL4A1):c.*587C>A	noncoding	Benign
13	110150187	T	C	T110150187C	COL4A1	NM_001845.6(COL4A1):c.*176A>G	noncoding	Benign/Likely_benign
13	110150402	C	T	C110150402T	COL4A1	NM_001845.6(COL4A1):c.4971G>A:p.Thr1657=	coding	Benign
13	110150432	C	T	C110150432T	COL4A1	NM_001845.6(COL4A1):c.4941G>A:p.Pro1647=	coding	Benign/Likely_benign
13	110152381	G	C	G110152381C	COL4A1	NM_001845.6(COL4A1):c.4881C>G:p.Asn1627Lys	coding	Pathogenic
13	110152419	C	T	C110152419T	COL4A1	NM_001845.6(COL4A1):c.4843G>A:p.Glu1615Lys	coding	Pathogenic
13	110152462	G	A	G110152462A	COL4A1	NM_001845.6(COL4A1):c.4800C>T:p.Ser1600=	coding	Benign
13	110152465	C	T	C110152465T	COL4A1	NM_001845.6(COL4A1):c.4797G>A:p.Ala1599=	coding	Benign/Likely_benign
13	110155300	C	G	C110155300G	COL4A1	NM_001845.6(COL4A1):c.4738G>C:p.Gly1580Arg	coding	Pathogenic
13	110155380	G	A	G110155380A	COL4A1	NM_001845.6(COL4A1):c.4658C>T:p.Ala1553Val	coding	Benign/Likely_benign
13	110161176	C	T	C110161176T	COL4A1	NM_001845.6(COL4A1):c.4640+16G>A	noncoding	Benign
13	110161184	C	T	C110161184T	COL4A1	NM_001845.6(COL4A1):c.4640+8G>A	noncoding	Benign/Likely_benign
13	110161185	G	A	G110161185A	COL4A1	NM_001845.6(COL4A1):c.4640+7C>T	noncoding	Benign
13	110161362	G	A	G110161362A	COL4A1	NM_001845.6(COL4A1):c.4470C>T:p.Ala1490=	coding	Benign
13	110162425	C	G	C110162425G	COL4A1	NM_001845.6(COL4A1):c.4267G>C:p.Gly1423Arg	coding	Pathogenic
13	110162454	G	A	G110162454A	COL4A1	NM_001845.6(COL4A1):c.4250-12C>T	noncoding	Benign/Likely_benign
13	110163483	A	G	A110163483G	COL4A1	NM_001845.6(COL4A1):c.4229T>C:p.Met1410Thr	coding	Benign/Likely_benign
13	110163509	G	A	G110163509A	COL4A1	NM_001845.6(COL4A1):c.4203C>T:p.Asp1401=	coding	Benign
13	110164859	C	T	C110164859T	COL4A1	NM_001845.6(COL4A1):c.4150+3G>A	noncoding	Benign/Likely_benign
13	110164956	G	A	G110164956A	COL4A1	NM_001845.6(COL4A1):c.4056C>T:p.Tyr1352=	coding	Benign/Likely_benign
13	110166243	G	A	G110166243A	COL4A1	NM_001845.6(COL4A1):c.4010C>T:p.Pro1337Leu	coding	Benign/Likely_benign
13	110166248	G	A	G110166248A	COL4A1	NM_001845.6(COL4A1):c.4005C>T:p.Gly1335=	coding	Benign/Likely_benign
13	110166251	T	G	T110166251G	COL4A1	NM_001845.6(COL4A1):c.4002A>C:p.Gln1334His	coding	Benign
13	110166257	G	A	G110166257A	COL4A1	NM_001845.6(COL4A1):c.3996C>T:p.Gly1332=	coding	Benign
13	110166258	C	T	C110166258T	COL4A1	NM_001845.6(COL4A1):c.3995G>A:p.Gly1332Asp	coding	Pathogenic
13	110166276	C	A	C110166276A	COL4A1	NM_001845.6(COL4A1):c.3977G>T:p.Gly1326Val	coding	Pathogenic
13	110166277	C	T	C110166277T	COL4A1	NM_001845.6(COL4A1):c.3976G>A:p.Gly1326Arg	coding	Pathogenic
13	110166281	G	A	G110166281A	COL4A1	NM_001845.6(COL4A1):c.3972C>T:p.Leu1324=	coding	Benign/Likely_benign
13	110167148	G	A	G110167148A	COL4A1	NM_001845.6(COL4A1):c.3949+10C>T	noncoding	Benign/Likely_benign
13	110167238	C	T	C110167238T	COL4A1	NM_001845.6(COL4A1):c.3877-8G>A	noncoding	Benign/Likely_benign
13	110167239	G	A	G110167239A	COL4A1	NM_001845.6(COL4A1):c.3877-9C>T	noncoding	Benign
13	110169729	G	C	G110169729C	COL4A1	NM_001845.6(COL4A1):c.3776C>G:p.Pro1259Arg	coding	Benign/Likely_benign
13	110169731	A	G	A110169731G	COL4A1	NM_001845.6(COL4A1):c.3774T>C:p.Leu1258=	coding	Benign/Likely_benign
13	110169745	C	T	C110169745T	COL4A1	NM_001845.6(COL4A1):c.3760G>A:p.Gly1254Arg	coding	Pathogenic
13	110169755	C	T	C110169755T	COL4A1	NM_001845.6(COL4A1):c.3750G>A:p.Pro1250=	coding	Benign
13	110170574	C	T	C110170574T	COL4A1	NM_001845.6(COL4A1):c.3715G>A:p.Gly1239Arg	coding	Pathogenic
13	110170583	C	T	C110170583T	COL4A1	NM_001845.6(COL4A1):c.3706G>A:p.Gly1236Arg	coding	Pathogenic
13	110170596	C	T	C110170596T	COL4A1	NM_001845.6(COL4A1):c.3693G>A:p.Thr1231=	coding	Benign
13	110170655	T	A	T110170655A	COL4A1	NM_001845.6(COL4A1):c.3634A>T:p.Met1212Leu	coding	Benign/Likely_benign
13	110172719	C	A	C110172719A	COL4A1	NM_001845.6(COL4A1):c.3556+1G>T	noncoding	Pathogenic
13	110172777	G	C	G110172777C	COL4A1	NM_001845.6(COL4A1):c.3506-7C>G	noncoding	Benign/Likely_benign
13	110173899	C	T	C110173899T	COL4A1	NM_001845.6(COL4A1):c.3505+1G>A	noncoding	Pathogenic
13	110174463	C	T	C110174463T	COL4A1	NM_001845.6(COL4A1):c.3389G>A:p.Gly1130Asp	coding	Pathogenic
13	110174641	C	T	C110174641T	COL4A1	NM_001845.6(COL4A1):c.3307G>A:p.Gly1103Arg	coding	Pathogenic
13	110174660	T	C	T110174660C	COL4A1	NM_001845.6(COL4A1):c.3288A>G:p.Pro1096=	coding	Benign/Likely_benign
13	110175208	C	T	C110175208T	COL4A1	NM_001845.6(COL4A1):c.3198+10G>A	noncoding	Benign/Likely_benign
13	110175227	T	A	T110175227A	COL4A1	NM_001845.6(COL4A1):c.3189A>T:p.Arg1063=	coding	Benign
13	110175233	C	T	C110175233T	COL4A1	NM_001845.6(COL4A1):c.3183G>A:p.Gly1061=	coding	Benign
13	110175312	C	A	C110175312A	COL4A1	NM_001845.6(COL4A1):c.3104G>T:p.Gly1035Val	coding	Pathogenic
13	110175334	G	A	G110175334A	COL4A1	NM_001845.6(COL4A1):c.3082C>T:p.Pro1028Ser	coding	Benign
13	110175349	C	T	C110175349T	COL4A1	NM_001845.6(COL4A1):c.3067G>A:p.Gly1023Arg	coding	Pathogenic
13	110176639	C	G	C110176639G	COL4A1	NM_001845.6(COL4A1):c.2955G>C:p.Gln985His	coding	Benign/Likely_benign
13	110176646	G	A	G110176646A	COL4A1	NM_001845.6(COL4A1):c.2948C>T:p.Ala983Val	coding	Benign
13	110176879	A	G	A110176879G	COL4A1	NM_001845.6(COL4A1):c.2869+6T>C	noncoding	Benign/Likely_benign
13	110176912	C	T	C110176912T	COL4A1	NM_001845.6(COL4A1):c.2842G>A:p.Gly948Ser	coding	Pathogenic
13	110177853	G	C	G110177853C	COL4A1	NM_001845.6(COL4A1):c.2705C>G:p.Pro902Arg	coding	Benign
13	110177886	C	T	C110177886T	COL4A1	NM_001845.6(COL4A1):c.2672G>A:p.Gly891Asp	coding	Pathogenic
13	110177896	C	T	C110177896T	COL4A1	NM_001845.6(COL4A1):c.2662G>A:p.Gly888Arg	coding	Pathogenic/Likely_pathogenic
13	110177911	C	T	C110177911T	COL4A1	NM_001845.6(COL4A1):c.2647G>A:p.Val883Ile	coding	Benign/Likely_benign
13	110177917	T	C	T110177917C	COL4A1	NM_001845.6(COL4A1):c.2641A>G:p.Met881Val	coding	Benign
13	110178066	G	C	G110178066C	COL4A1	NM_001845.6(COL4A1):c.2624C>G:p.Pro875Arg	coding	Benign/Likely_benign
13	110178173	C	T	C110178173T	COL4A1	NM_001845.6(COL4A1):c.2517G>A:p.Pro839=	coding	Benign/Likely_benign
13	110178188	A	C	A110178188C	COL4A1	NM_001845.6(COL4A1):c.2502T>G:p.Pro834=	coding	Benign
13	110178196	C	T	C110178196T	COL4A1	NM_001845.6(COL4A1):c.2494G>A:p.Gly832Arg	coding	Pathogenic
13	110178933	C	T	C110178933T	COL4A1	NM_001845.6(COL4A1):c.2448G>A:p.Pro816=	coding	Benign
13	110179282	T	C	T110179282C	COL4A1	NM_001845.6(COL4A1):c.2333A>G:p.Gln778Arg	coding	Benign
13	110179298	C	G	C110179298G	COL4A1	NM_001845.6(COL4A1):c.2317G>C:p.Gly773Arg	coding	Pathogenic
13	110179298	C	T	C110179298T	COL4A1	NM_001845.6(COL4A1):c.2317G>A:p.Gly773Arg	coding	Pathogenic
13	110179324	C	T	C110179324T	COL4A1	NM_001845.6(COL4A1):c.2291G>A:p.Gly764Asp	coding	Pathogenic
13	110179352	C	T	C110179352T	COL4A1	NM_001845.6(COL4A1):c.2263G>A:p.Gly755Arg	coding	Pathogenic
13	110179370	C	T	C110179370T	COL4A1	NM_001845.6(COL4A1):c.2245G>A:p.Gly749Ser	coding	Pathogenic
13	110179387	C	A	C110179387A	COL4A1	NM_001845.6(COL4A1):c.2228G>T:p.Gly743Val	coding	Pathogenic/Likely_pathogenic
13	110179422	C	T	C110179422T	COL4A1	NM_001845.6(COL4A1):c.2194-1G>A	coding	Pathogenic
13	110181326	C	T	C110181326T	COL4A1	NM_001845.6(COL4A1):c.2159G>A:p.Gly720Asp	coding	Pathogenic
13	110181355	C	T	C110181355T	COL4A1	NM_001845.6(COL4A1):c.2130G>A:p.Pro710=	coding	Benign
13	110181361	C	T	C110181361T	COL4A1	NM_001845.6(COL4A1):c.2124G>A:p.Gly708=	coding	Benign
13	110181363	C	T	C110181363T	COL4A1	NM_001845.6(COL4A1):c.2122G>A:p.Gly708Arg	coding	Pathogenic
13	110181382	G	A	G110181382A	COL4A1	NM_001845.6(COL4A1):c.2103C>T:p.Asp701=	coding	Benign/Likely_benign
13	110183002	C	T	C110183002T	COL4A1	NM_001845.6(COL4A1):c.2086G>A:p.Gly696Ser	coding	Pathogenic
13	110183005	G	C	G110183005C	COL4A1	NM_001845.6(COL4A1):c.2083C>G:p.Pro695Ala	coding	Benign
13	110183080	C	T	C110183080T	COL4A1	NM_001845.6(COL4A1):c.2008G>A:p.Gly670Arg	coding	Pathogenic
13	110183113	C	T	C110183113T	COL4A1	NM_001845.6(COL4A1):c.1991-16G>A	noncoding	Benign
13	110186401	T	C	T110186401C	COL4A1	NM_001845.6(COL4A1):c.1881A>G:p.Gly627=	coding	Benign
13	110186467	A	G	A110186467G	COL4A1	NM_001845.6(COL4A1):c.1815T>C:p.Pro605=	coding	Benign
13	110186513	C	T	C110186513T	COL4A1	NM_001845.6(COL4A1):c.1769G>A:p.Gly590Glu	coding	Pathogenic
13	110187165	C	T	C110187165T	COL4A1	NM_001845.6(COL4A1):c.1701G>A:p.Pro567=	coding	Benign
13	110187181	C	T	C110187181T	COL4A1	NM_001845.6(COL4A1):c.1685G>A:p.Gly562Glu	coding	Pathogenic
13	110187193	G	A	G110187193A	COL4A1	NM_001845.6(COL4A1):c.1673C>T:p.Ala558Val	coding	Benign/Likely_benign
13	110187283	C	T	C110187283T	COL4A1	NM_001845.6(COL4A1):c.1583G>A:p.Gly528Glu	coding	Pathogenic
13	110187311	C	T	C110187311T	COL4A1	NM_001845.6(COL4A1):c.1555G>A:p.Gly519Arg	coding	Pathogenic
13	110192222	C	T	C110192222T	COL4A1	NM_001845.6(COL4A1):c.1528G>A:p.Gly510Arg	coding	Pathogenic
13	110192256	G	A	G110192256A	COL4A1	NM_001845.6(COL4A1):c.1494C>T:p.Gly498=	coding	Benign
13	110192257	C	A	C110192257A	COL4A1	NM_001845.6(COL4A1):c.1493G>T:p.Gly498Val	coding	Pathogenic
13	110192257	C	T	C110192257T	COL4A1	NM_001845.6(COL4A1):c.1493G>A:p.Gly498Asp	coding	Pathogenic
13	110192258	C	G	C110192258G	COL4A1	NM_001845.6(COL4A1):c.1492G>C:p.Gly498Arg	coding	Pathogenic
13	110192858	G	A	G110192858A	COL4A1	NM_001845.6(COL4A1):c.1437C>T:p.Pro479=	coding	Benign
13	110192869	G	A	G110192869A	COL4A1	NM_001845.6(COL4A1):c.1426C>T:p.Arg476Trp	coding	Benign/Likely_benign
13	110192876	G	A	G110192876A	COL4A1	NM_001845.6(COL4A1):c.1419C>T:p.Asp473=	coding	Benign
13	110195044	T	C	T110195044C	COL4A1	NM_001845.6(COL4A1):c.1360A>G:p.Ile454Val	coding	Benign/Likely_benign
13	110198495	A	G	A110198495G	COL4A1	NM_001845.6(COL4A1):c.1257T>C:p.Pro419=	coding	Benign
13	110201433	G	C	G110201433C	COL4A1	NM_001845.6(COL4A1):c.1084+5C>G	noncoding	Benign
13	110201535	G	C	G110201535C	COL4A1	NM_001845.6(COL4A1):c.1000-13C>G	noncoding	Benign/Likely_benign
13	110203616	G	A	G110203616A	COL4A1	NM_001845.6(COL4A1):c.958-9C>T	noncoding	Benign
13	110203617	A	G	A110203617G	COL4A1	NM_001845.6(COL4A1):c.958-10T>C	noncoding	Benign
13	110205346	C	T	C110205346T	COL4A1	NM_001845.6(COL4A1):c.957+7G>A	noncoding	Benign
13	110205399	G	A	G110205399A	COL4A1	NM_001845.6(COL4A1):c.911C>T:p.Pro304Leu	coding	Benign
13	110205415	G	A	G110205415A	COL4A1	NM_001845.6(COL4A1):c.904-9C>T	noncoding	Benign/Likely_benign
13	110205476	C	T	C110205476T	COL4A1	NM_001845.6(COL4A1):c.903+18G>A	noncoding	Benign
13	110205548	A	G	A110205548G	COL4A1	NM_001845.6(COL4A1):c.859-10T>C	noncoding	Benign
13	110206692	T	C	T110206692C	COL4A1	NM_001845.6(COL4A1):c.831A>G:p.Lys277=	coding	Benign/Likely_benign
13	110206722	G	C	G110206722C	COL4A1	NM_001845.6(COL4A1):c.808-7C>G	noncoding	Benign
13	110206722	G	T	G110206722T	COL4A1	NM_001845.6(COL4A1):c.808-7C>A	noncoding	Benign
13	110206903	C	T	C110206903T	COL4A1	NM_001845.6(COL4A1):c.781-12G>A	noncoding	Benign/Likely_benign
13	110207396	C	T	C110207396T	COL4A1	NM_001845.6(COL4A1):c.780+7G>A	noncoding	Benign
13	110207475	G	C	G110207475C	COL4A1	NM_001845.6(COL4A1):c.708C>G:p.Val236=	coding	Benign/Likely_benign
13	110208852	G	A	G110208852A	COL4A1	NM_001845.6(COL4A1):c.690C>T:p.Asp230=	coding	Benign/Likely_benign
13	110209410	G	A	G110209410A	COL4A1	NM_001845.6(COL4A1):c.633C>T:p.Pro211=	coding	Benign
13	110209438	C	G	C110209438G	COL4A1	NM_001845.6(COL4A1):c.616-11G>C	noncoding	Benign
13	110210180	G	A	G110210180A	COL4A1	NM_001845.6(COL4A1):c.501C>T:p.Pro167=	coding	Benign/Likely_benign
13	110210187	T	C	T110210187C	COL4A1	NM_001845.6(COL4A1):c.494A>G:p.His165Arg	coding	Benign
13	110211878	A	T	A110211878T	COL4A1	NM_001845.6(COL4A1):c.432T>A:p.Ala144=	coding	Benign
13	110211905	G	A	G110211905A	COL4A1	NM_001845.6(COL4A1):c.405C>T:p.Leu135=	coding	Benign/Likely_benign
13	110211917	C	T	C110211917T	COL4A1	NM_001845.6(COL4A1):c.393G>A:p.Glu131=	coding	Benign/Likely_benign
13	110212573	C	T	C110212573T	COL4A1	NM_001845.6(COL4A1):c.324+1G>A	noncoding	Pathogenic
13	110213762	T	A	T110213762A	COL4A1	NM_001845.6(COL4A1):c.279+20A>T	noncoding	Benign
13	110242745	A	G	A110242745G	COL4A1	NM_001845.6(COL4A1):c.85-11T>C	noncoding	Benign
13	110307009	C	G	C110307009G	COL4A1;COL4A2	NM_001845.6(COL4A1):c.19G>C:p.Val7Leu	coding	Benign
13	110307027	T	A	T110307027A	COL4A1	NM_001845.6(COL4A1):c.1A>T:p.Met1Leu	coding	Pathogenic
13	110307117	C	A	C110307117A	COL4A2;COL4A1	NM_001845.6(COL4A1):c.-90G>T	noncoding	Benign
13	110307296	A	C	A110307296C	COL4A1;COL4A2	NM_001846.4(COL4A2):c.-277A>C	noncoding	Benign
13	110307341	C	G	C110307341G	COL4A1;COL4A2	NM_001846.4(COL4A2):c.-232C>G	noncoding	Benign
13	110307358	C	A	C110307358A	COL4A2	NM_001846.4(COL4A2):c.-215C>A	noncoding	Benign
13	110307358	C	T	C110307358T	COL4A1;COL4A2	NM_001846.4(COL4A2):c.-215C>T	noncoding	Benign
13	110307370	T	C	T110307370C	COL4A1;COL4A2	NM_001846.4(COL4A2):c.-203T>C	noncoding	Benign
13	110307440	A	G	A110307440G	COL4A1;COL4A2	NM_001846.4(COL4A2):c.-133A>G	noncoding	Benign
13	110308073	C	T	C110308073T	COL4A2	NM_001846.4(COL4A2):c.49C>T:p.Leu17=	coding	Benign
13	110424810	G	A	G110424810A	COL4A2	NM_001846.4(COL4A2):c.257G>A:p.Arg86His	coding	Benign
13	110424850	G	A	G110424850A	COL4A2	NM_001846.4(COL4A2):c.297G>A:p.Thr99=	coding	Benign
13	110424882	G	T	G110424882T	COL4A2	NM_001846.4(COL4A2):c.315+14G>T	noncoding	Benign
13	110424952	G	C	G110424952C	COL4A2	NM_001846.4(COL4A2):c.316-1G>C	noncoding	Pathogenic
13	110428456	C	G	C110428456G	COL4A2	NM_001846.4(COL4A2):c.361-11C>G	noncoding	Benign
13	110428501	C	T	C110428501T	COL4A2	NM_001846.4(COL4A2):c.395C>T:p.Pro132Leu	coding	Benign
13	110428574	C	T	C110428574T	COL4A2	NM_001846.4(COL4A2):c.468C>T:p.Thr156=	coding	Benign
13	110429971	G	C	G110429971C	COL4A2	NM_001846.4(COL4A2):c.549+15G>C	noncoding	Benign
13	110430388	T	C	T110430388C	COL4A2	NM_001846.4(COL4A2):c.550-13T>C	noncoding	Benign
13	110430425	G	T	G110430425T	COL4A2	NM_001846.4(COL4A2):c.574G>T:p.Val192Phe	coding	Benign
13	110430427	C	T	C110430427T	COL4A2	NM_001846.4(COL4A2):c.576C>T:p.Val192=	coding	Benign
13	110430553	C	T	C110430553T	COL4A2	NM_001846.4(COL4A2):c.594C>T:p.Pro198=	coding	Benign
13	110432309	C	T	C110432309T	COL4A2	NM_001846.4(COL4A2):c.649-16C>T	noncoding	Benign
13	110432345	A	G	A110432345G	COL4A2	NM_001846.4(COL4A2):c.669A>G:p.Gly223=	coding	Benign
13	110432368	G	A	G110432368A	COL4A2	NM_001846.4(COL4A2):c.684+8G>A	noncoding	Benign
13	110434424	C	T	C110434424T	COL4A2	NM_001846.4(COL4A2):c.708C>T:p.Tyr236=	coding	Benign
13	110436274	C	T	C110436274T	COL4A2	NM_001846.4(COL4A2):c.732C>T:p.Asp244=	coding	Benign
13	110438644	A	G	A110438644G	COL4A2	NM_001846.4(COL4A2):c.888A>G:p.Gly296=	coding	Benign/Likely_benign
13	110438677	C	T	C110438677T	COL4A2	NM_001846.4(COL4A2):c.912+9C>T	noncoding	Benign
13	110445879	C	T	C110445879T	COL4A2	NM_001846.4(COL4A2):c.1008C>T:p.Pro336=	coding	Benign
13	110445882	G	A	G110445882A	COL4A2	NM_001846.4(COL4A2):c.1011G>A:p.Lys337=	coding	Benign
13	110449694	C	T	C110449694T	COL4A2	NM_001846.4(COL4A2):c.1094C>T:p.Pro365Leu	coding	Benign
13	110449695	G	A	G110449695A	COL4A2	NM_001846.4(COL4A2):c.1095G>A:p.Pro365=	coding	Benign
13	110449779	C	T	C110449779T	COL4A2	NM_001846.4(COL4A2):c.1179C>T:p.Ile393=	coding	Benign
13	110450314	G	C	G110450314C	COL4A2	NM_001846.4(COL4A2):c.1199G>C:p.Arg400Thr	coding	Benign
13	110450371	C	T	C110450371T	COL4A2	NM_001846.4(COL4A2):c.1256C>T:p.Ala419Val	coding	Benign
13	110450423	C	T	C110450423T	COL4A2	NM_001846.4(COL4A2):c.1308C>T:p.Pro436=	coding	Benign
13	110450443	C	G	C110450443G	COL4A2	NM_001846.4(COL4A2):c.1328C>G:p.Pro443Arg	coding	Benign
13	110450468	A	G	A110450468G	COL4A2	NM_001846.4(COL4A2):c.1339+14A>G	noncoding	Benign
13	110457378	G	A	G110457378A	COL4A2	NM_001846.4(COL4A2):c.1375G>A:p.Ala459Thr	coding	Benign/Likely_benign
13	110458826	G	A	G110458826A	COL4A2	NM_001846.4(COL4A2):c.1488G>A:p.Pro496=	coding	Benign
13	110458888	G	A	G110458888A	COL4A2	NM_001846.4(COL4A2):c.1550G>A:p.Arg517Lys	coding	Benign
13	110458942	G	C	G110458942C	COL4A2	NM_001846.4(COL4A2):c.1596+8G>C	noncoding	Benign
13	110462172	C	A	C110462172A	COL4A2	NM_001846.4(COL4A2):c.1655C>A:p.Thr552Lys	coding	Benign
13	110462191	G	C	G110462191C	COL4A2	NM_001846.4(COL4A2):c.1669+5G>C	noncoding	Benign
13	110465398	C	T	C110465398T	COL4A2	NM_001846.4(COL4A2):c.1777-7C>T	noncoding	Benign
13	110465418	A	G	A110465418G	COL4A2	NM_001846.4(COL4A2):c.1790A>G:p.Lys597Arg	coding	Benign
13	110465542	C	T	C110465542T	COL4A2	NM_001846.4(COL4A2):c.1914C>T:p.Ala638=	coding	Benign
13	110465573	C	T	C110465573T	COL4A2	NM_001846.4(COL4A2):c.1945C>T:p.Pro649Ser	coding	Benign/Likely_benign
13	110465997	C	T	C110465997T	COL4A2	NM_001846.4(COL4A2):c.1979-6C>T	noncoding	Benign/Likely_benign
13	110466028	C	T	C110466028T	COL4A2	NM_001846.4(COL4A2):c.2004C>T:p.Ala668=	coding	Benign
13	110466035	G	A	G110466035A	COL4A2	NM_001846.4(COL4A2):c.2011G>A:p.Gly671Ser	coding	Benign
13	110467037	C	T	C110467037T	COL4A2	NM_001846.4(COL4A2):c.2039-3C>T	noncoding	Benign
13	110467049	G	C	G110467049C	COL4A2	NM_001846.4(COL4A2):c.2048G>C:p.Gly683Ala	coding	Benign
13	110467105	C	T	C110467105T	COL4A2	NM_001846.4(COL4A2):c.2095+9C>T	noncoding	Benign
13	110469223	A	G	A110469223G	COL4A2	NM_001846.4(COL4A2):c.2102A>G:p.Lys701Arg	coding	Benign
13	110469273	C	T	C110469273T	COL4A2	NM_001846.4(COL4A2):c.2152C>T:p.Pro718Ser	coding	Benign
13	110469293	C	T	C110469293T	COL4A2	NM_001846.4(COL4A2):c.2172C>T:p.Asp724=	coding	Benign
13	110472969	C	T	C110472969T	COL4A2	NM_001846.4(COL4A2):c.2244C>T:p.Leu748=	coding	Benign
13	110473056	G	A	G110473056A	COL4A2	NM_001846.4(COL4A2):c.2331G>A:p.Leu777=	coding	Benign
13	110478061	T	C	T110478061C	COL4A2	NM_001846.4(COL4A2):c.2484T>C:p.Pro828=	coding	Benign
13	110478172	C	T	C110478172T	COL4A2	NM_001846.4(COL4A2):c.2587+8C>T	noncoding	Benign
13	110480209	C	T	C110480209T	COL4A2	NM_001846.4(COL4A2):c.2588-11C>T	noncoding	Benign
13	110482511	T	C	T110482511C	COL4A2	NM_001846.4(COL4A2):c.2759-5T>C	noncoding	Benign
13	110484893	A	G	A110484893G	COL4A2	NM_001846.4(COL4A2):c.2903-12A>G	noncoding	Benign
13	110485671	A	C	A110485671C	COL4A2	NM_001846.4(COL4A2):c.3042A>C:p.Pro1014=	coding	Benign
13	110485716	C	T	C110485716T	COL4A2	NM_001846.4(COL4A2):c.3087C>T:p.Pro1029=	coding	Benign
13	110485739	G	A	G110485739A	COL4A2	NM_001846.4(COL4A2):c.3110G>A:p.Gly1037Glu	coding	Pathogenic
13	110485755	C	T	C110485755T	COL4A2	NM_001846.4(COL4A2):c.3126C>T:p.Pro1042=	coding	Benign
13	110489471	A	C	A110489471C	COL4A2	NM_001846.4(COL4A2):c.3234A>C:p.Ala1078=	coding	Benign
13	110489765	G	A	G110489765A	COL4A2	NM_001846.4(COL4A2):c.3326G>A:p.Arg1109Gln	coding	Benign
13	110489792	A	G	A110489792G	COL4A2	NM_001846.4(COL4A2):c.3346+7A>G	noncoding	Benign
13	110491254	A	G	A110491254G	COL4A2	NM_001846.4(COL4A2):c.3368A>G:p.Glu1123Gly	coding	Benign/Likely_benign
13	110491282	C	T	C110491282T	COL4A2	NM_001846.4(COL4A2):c.3396C>T:p.Phe1132=	coding	Benign
13	110491334	C	A	C110491334A	COL4A2	NM_001846.4(COL4A2):c.3448C>A:p.Gln1150Lys	coding	Benign/Likely_benign
13	110492065	C	G	C110492065G	COL4A2	NM_001846.4(COL4A2):c.3455-5C>G	noncoding	Benign
13	110492070	G	A	G110492070A	COL4A2	NM_001846.4(COL4A2):c.3455G>A:p.Gly1152Asp	coding	Pathogenic
13	110492105	G	A	G110492105A	COL4A2	NM_001846.4(COL4A2):c.3490G>A:p.Gly1164Arg	coding	Pathogenic
13	110493286	C	T	C110493286T	COL4A2	NM_001846.4(COL4A2):c.3634+4C>T	noncoding	Benign
13	110493294	C	T	C110493294T	COL4A2	NM_001846.4(COL4A2):c.3634+12C>T	noncoding	Benign
13	110493295	G	A	G110493295A	COL4A2	NM_001846.4(COL4A2):c.3634+13G>A	noncoding	Benign
13	110495349	C	T	C110495349T	COL4A2	NM_001846.4(COL4A2):c.3642C>T:p.Asp1214=	coding	Benign
13	110501763	C	T	C110501763T	COL4A2	NM_001846.4(COL4A2):c.3856C>T:p.Pro1286Ser	coding	Benign
13	110501778	C	T	C110501778T	COL4A2	NM_001846.4(COL4A2):c.3871C>T:p.Leu1291=	coding	Benign
13	110503227	C	T	C110503227T	COL4A2	NM_001846.4(COL4A2):c.3984C>T:p.Ala1328=	coding	Benign
13	110503432	G	A	G110503432A	COL4A2	NM_001846.4(COL4A2):c.4089G>A:p.Ala1363=	coding	Benign
13	110503439	G	A	G110503439A	COL4A2	NM_001846.4(COL4A2):c.4096G>A:p.Asp1366Asn	coding	Benign
13	110503466	G	A	G110503466A	COL4A2	NM_001846.4(COL4A2):c.4123G>A:p.Asp1375Asn	coding	Benign
13	110503472	G	A	G110503472A	COL4A2	NM_001846.4(COL4A2):c.4129G>A:p.Gly1377Arg	coding	Pathogenic
13	110503854	C	T	C110503854T	COL4A2	NM_001846.4(COL4A2):c.4146C>T:p.Pro1382=	coding	Benign
13	110503875	G	A	G110503875A	COL4A2	NM_001846.4(COL4A2):c.4167G>A:p.Gly1389=	coding	Benign/Likely_benign
13	110503903	G	A	G110503903A	COL4A2	NM_001846.4(COL4A2):c.4195G>A:p.Val1399Ile	coding	Benign
13	110503963	A	G	A110503963G	COL4A2	NM_001846.4(COL4A2):c.4255A>G:p.Met1419Val	coding	Benign
13	110503964	T	C	T110503964C	COL4A2	NM_001846.4(COL4A2):c.4256T>C:p.Met1419Thr	coding	Benign
13	110506426	C	T	C110506426T	COL4A2	NM_001846.4(COL4A2):c.4414C>T:p.Arg1472Cys	coding	Benign
13	110506440	G	A	G110506440A	COL4A2	NM_001846.4(COL4A2):c.4428G>A:p.Pro1476=	coding	Benign
13	110506448	C	T	C110506448T	COL4A2	NM_001846.4(COL4A2):c.4436C>T:p.Pro1479Leu	coding	Benign
13	110506468	G	A	G110506468A	COL4A2	NM_001846.4(COL4A2):c.4456G>A:p.Val1486Ile	coding	Benign/Likely_benign
13	110506527	A	G	A110506527G	COL4A2	NM_001846.4(COL4A2):c.4515A>G:p.Pro1505=	coding	Benign
13	110506590	G	A	G110506590A	COL4A2	NM_001846.4(COL4A2):c.4578G>A:p.Ala1526=	coding	Benign
13	110507957	G	A	G110507957A	COL4A2	NM_001846.4(COL4A2):c.4617G>A:p.Ala1539=	coding	Benign
13	110508056	G	A	G110508056A	COL4A2	NM_001846.4(COL4A2):c.4716G>A:p.Pro1572=	coding	Benign/Likely_benign
13	110508077	C	T	C110508077T	COL4A2	NM_001846.4(COL4A2):c.4737C>T:p.Ala1579=	coding	Benign
13	110508116	G	T	G110508116T	COL4A2	NM_001846.4(COL4A2):c.4776G>T:p.Val1592=	coding	Benign
13	110511919	C	T	C110511919T	COL4A2	NM_001846.4(COL4A2):c.4882-15C>T	noncoding	Benign
13	110511921	C	G	C110511921G	COL4A2	NM_001846.4(COL4A2):c.4882-13C>G	noncoding	Benign
13	110511927	T	C	T110511927C	COL4A2	NM_001846.4(COL4A2):c.4882-7T>C	noncoding	Benign
13	110511967	T	C	T110511967C	COL4A2	NM_001846.4(COL4A2):c.4915T>C:p.Ser1639Pro	coding	Benign
13	110511981	G	A	G110511981A	COL4A2	NM_001846.4(COL4A2):c.4929G>A:p.Pro1643=	coding	Benign/Likely_benign
13	110512020	C	T	C110512020T	COL4A2	NM_001846.4(COL4A2):c.4968C>T:p.Ile1656=	coding	Benign/Likely_benign
13	110512037	G	A	G110512037A	COL4A2	NM_001846.4(COL4A2):c.4985G>A:p.Arg1662His	coding	Benign
13	110512120	G	A	G110512120A	COL4A2	NM_001846.4(COL4A2):c.5068G>A:p.Ala1690Thr	coding	Benign/Likely_benign
13	110512122	C	T	C110512122T	COL4A2	NM_001846.4(COL4A2):c.5070C>T:p.Ala1690=	coding	Benign
13	110512216	T	C	T110512216C	COL4A2	NM_001846.4(COL4A2):c.*25T>C	noncoding	Benign
13	110512267	T	C	T110512267C	COL4A2	NM_001846.4(COL4A2):c.*76T>C	noncoding	Benign
13	110512471	C	G	C110512471G	COL4A2	NM_001846.4(COL4A2):c.*280C>G	noncoding	Benign
13	110512562	A	G	A110512562G	COL4A2	NM_001846.4(COL4A2):c.*371A>G	noncoding	Benign
13	110512608	C	G	C110512608G	COL4A2	NM_001846.4(COL4A2):c.*417C>G	noncoding	Benign
13	110512732	C	T	C110512732T	COL4A2	NM_001846.4(COL4A2):c.*541C>T	noncoding	Benign
13	110512748	A	G	A110512748G	COL4A2	NM_001846.4(COL4A2):c.*557A>G	noncoding	Benign
13	110512841	T	C	T110512841C	COL4A2	NM_001846.4(COL4A2):c.*650T>C	noncoding	Benign
13	110512854	T	C	T110512854C	COL4A2	NM_001846.4(COL4A2):c.*663T>C	noncoding	Benign
13	110512886	T	C	T110512886C	COL4A2	NM_001846.4(COL4A2):c.*695T>C	noncoding	Benign
13	110512918	G	C	G110512918C	COL4A2	NM_001846.4(COL4A2):c.*727G>C	noncoding	Benign
13	110512960	G	A	G110512960A	COL4A2	NM_001846.4(COL4A2):c.*769G>A	noncoding	Benign
13	110512991	G	A	G110512991A	COL4A2	NM_001846.4(COL4A2):c.*800G>A	noncoding	Benign
13	110622356	G	A	G110622356A	NAXD	NM_001242883.1(NAXD):c.57-5083G>A	coding	Pathogenic
13	110637250	G	T	G110637250T	NAXD	NM_001242882.1(NAXD):c.839+1G>T	coding	Pathogenic
13	110641551	T	C	T110641551C	CARS2	NM_024537.4(CARS2):c.1681A>G:p.Lys561Glu	coding	Benign/Likely_benign
13	110641568	T	G	T110641568G	CARS2	NM_024537.4(CARS2):c.1664A>C:p.Gln555Pro	coding	Benign
13	110641620	G	C	G110641620C	CARS2	NM_024537.4(CARS2):c.1624-12C>G	noncoding	Benign/Likely_benign
13	110642407	C	T	C110642407T	CARS2	NM_024537.4(CARS2):c.1531G>A:p.Ala511Thr	coding	Benign/Likely_benign
13	110642449	C	T	C110642449T	CARS2	NM_024537.4(CARS2):c.1489G>A:p.Val497Ile	coding	Benign/Likely_benign
13	110645723	T	G	T110645723G	CARS2	NM_024537.4(CARS2):c.1317+244A>C	noncoding	Benign
13	110645957	G	A	G110645957A	CARS2	NM_024537.4(CARS2):c.1317+10C>T	noncoding	Benign
13	110645976	C	T	C110645976T	CARS2	NM_024537.4(CARS2):c.1308G>A:p.Ala436=	coding	Benign/Likely_benign
13	110646045	A	G	A110646045G	CARS2	NM_024537.4(CARS2):c.1239T>C:p.Asp413=	coding	Benign
13	110647162	G	A	G110647162A	CARS2	NM_024537.4(CARS2):c.1132C>T:p.Arg378Cys	coding	Benign
13	110647166	G	A	G110647166A	CARS2	NM_024537.4(CARS2):c.1128C>T:p.Asp376=	coding	Benign/Likely_benign
13	110647235	G	A	G110647235A	CARS2	NM_024537.4(CARS2):c.1059C>T:p.Ile353=	coding	Benign
13	110647371	C	T	C110647371T	CARS2	NM_024537.4(CARS2):c.1055-132G>A	noncoding	Benign
13	110647557	G	A	G110647557A	CARS2	NM_024537.4(CARS2):c.1055-318C>T	noncoding	Benign
13	110651026	C	T	C110651026T	CARS2	NM_024537.4(CARS2):c.1054+8G>A	noncoding	Benign/Likely_benign
13	110663159	A	C	A110663159C	CARS2	NM_024537.4(CARS2):c.987+292T>G	noncoding	Benign
13	110663204	A	G	A110663204G	CARS2	NM_024537.4(CARS2):c.987+247T>C	noncoding	Benign
13	110663508	G	A	G110663508A	CARS2	NM_024537.4(CARS2):c.930C>T:p.His310=	coding	Benign/Likely_benign
13	110663696	G	C	G110663696C	CARS2	NM_024537.4(CARS2):c.920-178C>G	noncoding	Benign
13	110663714	C	T	C110663714T	CARS2	NM_024537.4(CARS2):c.920-196G>A	noncoding	Benign
13	110667407	T	C	T110667407C	CARS2	NM_024537.4(CARS2):c.852A>G:p.Glu284=	coding	Benign
13	110677007	G	A	G110677007A	CARS2	NM_024537.4(CARS2):c.752C>T:p.Pro251Leu	coding	Pathogenic
13	110683059	C	T	C110683059T	CARS2	NM_024537.4(CARS2):c.647G>A:p.Gly216Glu	coding	Benign
13	110683120	C	T	C110683120T	CARS2	NM_024537.4(CARS2):c.586G>A:p.Asp196Asn	coding	Benign
13	110687728	C	T	C110687728T	CARS2	NM_024537.4(CARS2):c.564G>A:p.Thr188=	coding	Benign/Likely_benign
13	110687754	T	A	T110687754A	CARS2	NM_024537.4(CARS2):c.538A>T:p.Ile180Phe	coding	Benign
13	110687995	G	A	G110687995A	CARS2	NM_024537.4(CARS2):c.417C>T:p.Leu139=	coding	Benign
13	110701763	T	C	T110701763C	CARS2	NM_024537.4(CARS2):c.276-208A>G	noncoding	Benign
13	110706030	C	T	C110706030T	CARS2	NM_024537.4(CARS2):c.64G>A:p.Gly22Arg	coding	Benign
13	110706141	G	A	G110706141A	CARS2	NM_001352252.2(CARS2):c.-776+230C>T	noncoding	Benign
13	110719545	G	A	G110719545A	ING1	NM_198219.3(ING1):c.453G>A:p.Arg151=	coding	Benign
13	110719667	C	A	C110719667A	ING1	NM_198219.3(ING1):c.575C>A:p.Ala192Asp	coding	Pathogenic
13	110719736	G	C	G110719736C	ING1	NM_198219.3(ING1):c.644G>C:p.Cys215Ser	coding	Pathogenic
13	110719739	A	G	A110719739G	ING1	NM_198219.3(ING1):c.647A>G:p.Asn216Ser	coding	Pathogenic
13	111217801	G	C	G111217801C	ARHGEF7	NM_001113511.2(ARHGEF7):c.654G>C:p.Glu218Asp	coding	Benign
13	111217879	C	T	C111217879T	ARHGEF7	NM_001113511.2(ARHGEF7):c.732C>T:p.Ser244=	coding	Benign
13	111267623	G	A	G111267623A	ARHGEF7	NM_001113511.2(ARHGEF7):c.1089G>A:p.Thr363=	coding	Benign
13	111267659	C	G	C111267659G	ARHGEF7	NM_001113511.2(ARHGEF7):c.1125C>G:p.Leu375=	coding	Benign
13	111277626	T	C	T111277626C	ARHGEF7	NM_001113511.2(ARHGEF7):c.1522T>C:p.Leu508=	coding	Benign
13	111280620	G	A	G111280620A	ARHGEF7	NM_001113511.2(ARHGEF7):c.1731G>A:p.Thr577=	coding	Benign
13	111283189	C	T	C111283189T	ARHGEF7	NM_001113511.2(ARHGEF7):c.1839C>T:p.Pro613=	coding	Benign
13	111283318	G	A	G111283318A	ARHGEF7	NM_001113511.2(ARHGEF7):c.1968G>A:p.Arg656=	coding	Benign
13	111283321	C	T	C111283321T	ARHGEF7	NM_001113511.2(ARHGEF7):c.1971C>T:p.Pro657=	coding	Benign
13	111283324	G	A	G111283324A	ARHGEF7	NM_001113511.2(ARHGEF7):c.1974G>A:p.Ala658=	coding	Benign
13	111286227	C	T	C111286227T	ARHGEF7	NM_001113511.2(ARHGEF7):c.2094C>T:p.Phe698=	coding	Benign
13	111292161	T	C	T111292161C	ARHGEF7	NM_001113511.2(ARHGEF7):c.2241T>C:p.Asp747=	coding	Benign
13	112067685	C	T	C112067685T	SOX1	NM_005986.3(SOX1):c.27C>T:p.Asp9=	coding	Benign
13	112068036	C	T	C112068036T	SOX1	NM_005986.3(SOX1):c.378C>T:p.Thr126=	coding	Benign
13	112068759	G	A	G112068759A	SOX1	NM_005986.3(SOX1):c.1101G>A:p.Arg367=	coding	Benign
13	112805055	G	A	G112805055A	ATP11A	NM_032189.3(ATP11A):c.252+9G>A	noncoding	Benign
13	112810613	T	A	T112810613A	ATP11A	NM_032189.3(ATP11A):c.334-6T>A	noncoding	Benign
13	112824381	A	G	A112824381G	ATP11A	NM_032189.3(ATP11A):c.828A>G:p.Ala276=	coding	Benign
13	112826774	C	T	C112826774T	ATP11A	NM_032189.3(ATP11A):c.1104C>T:p.Val368=	coding	Benign
13	112831500	G	A	G112831500A	ATP11A	NM_032189.3(ATP11A):c.1347G>A:p.Glu449=	coding	Benign
13	112832972	T	G	T112832972G	ATP11A	NM_032189.3(ATP11A):c.1508T>G:p.Val503Gly	coding	Benign
13	112833033	G	A	G112833033A	ATP11A	NM_032189.3(ATP11A):c.1559+10G>A	noncoding	Benign
13	112842373	C	T	C112842373T	ATP11A	NM_032189.3(ATP11A):c.1803C>T:p.Asn601=	coding	Benign
13	112854297	A	G	A112854297G	ATP11A	NM_032189.3(ATP11A):c.2010A>G:p.Ala670=	coding	Benign
13	112854327	G	A	G112854327A	ATP11A	NM_032189.3(ATP11A):c.2040G>A:p.Gly680=	coding	Benign
13	112854408	C	T	C112854408T	ATP11A	NM_032189.3(ATP11A):c.2121C>T:p.Asn707=	coding	Benign
13	112854411	G	A	G112854411A	ATP11A	NM_032189.3(ATP11A):c.2124G>A:p.Thr708=	coding	Benign
13	112854441	C	T	C112854441T	ATP11A	NM_032189.3(ATP11A):c.2154C>T:p.Ile718=	coding	Benign
13	112856043	C	T	C112856043T	ATP11A	NM_032189.3(ATP11A):c.2376C>T:p.Ser792=	coding	Benign
13	112856046	G	A	G112856046A	ATP11A	NM_032189.3(ATP11A):c.2379G>A:p.Ala793=	coding	Benign
13	112857820	T	A	T112857820A	ATP11A	NM_032189.3(ATP11A):c.2421T>A:p.Ile807=	coding	Benign
13	112858260	C	T	C112858260T	ATP11A	NM_032189.3(ATP11A):c.2637C>T:p.Ile879=	coding	Benign
13	112871752	G	A	G112871752A	ATP11A	NM_032189.3(ATP11A):c.3009G>A:p.Thr1003=	coding	Benign
13	112875861	G	T	G112875861T	ATP11A	NM_032189.3(ATP11A):c.3247G>T:p.Val1083Leu	coding	Benign
13	112881856	C	G	C112881856G	ATP11A	NM_032189.3(ATP11A):c.3368C>G:p.Thr1123Ser	coding	Benign
13	112881971	G	A	G112881971A	ATP11A	NM_032189.3(ATP11A):c.3483G>A:p.Thr1161=	coding	Benign
13	113045368	G	C	G113045368C	MCF2L	NM_001112732.3(MCF2L):c.369+7G>C	noncoding	Benign
13	113066163	G	A	G113066163A	MCF2L	NM_001112732.3(MCF2L):c.874G>A:p.Val292Met	coding	Benign
13	113074497	C	T	C113074497T	MCF2L	NM_001112732.3(MCF2L):c.1050C>T:p.Ile350=	coding	Benign
13	113074573	G	A	G113074573A	MCF2L	NM_001112732.3(MCF2L):c.1116+10G>A	noncoding	Benign
13	113075033	C	T	C113075033T	MCF2L	NM_001112732.3(MCF2L):c.1152C>T:p.Asp384=	coding	Benign
13	113075053	A	G	A113075053G	MCF2L	NM_001112732.3(MCF2L):c.1172A>G:p.Asn391Ser	coding	Benign
13	113075100	C	T	C113075100T	MCF2L	NM_001112732.3(MCF2L):c.1219C>T:p.Arg407Trp	coding	Benign
13	113075150	G	T	G113075150T	MCF2L	NM_001112732.3(MCF2L):c.1269G>T:p.Leu423=	coding	Benign
13	113075197	G	A	G113075197A	MCF2L	NM_001112732.3(MCF2L):c.1308+8G>A	noncoding	Benign
13	113076112	C	G	C113076112G	MCF2L	NM_001112732.3(MCF2L):c.1455C>G:p.Asn485Lys	coding	Benign
13	113085076	T	G	T113085076G	MCF2L	NM_001112732.3(MCF2L):c.2155-10T>G	noncoding	Benign
13	113094643	C	T	C113094643T	MCF2L	NM_001112732.3(MCF2L):c.3075+8C>T	noncoding	Benign
13	113105879	T	C	T113105879C	F7	NM_019616.4(F7):c.38T>C:p.Leu13Pro	coding	Pathogenic
13	113105913	C	T	C113105913T	F7	NM_000131.4(F7):c.64+8C>T	noncoding	Benign/Likely_benign
13	113105914	G	A	G113105914A	F7	NM_000131.4(F7):c.64+9G>A	noncoding	Benign
13	113106846	C	T	C113106846T	F7	NM_019616.4(F7):c.64+941C>T	coding	Benign
13	113106888	G	A	G113106888A	F7	NM_000131.4(F7):c.108G>A:p.Pro36=	coding	Benign/Likely_benign
13	113110844	G	A	G113110844A	F7	NM_019616.4(F7):c.219G>A:p.Glu73=	coding	Benign
13	113110851	G	A	G113110851A	F7	NM_019616.4(F7):c.225+1G>A	coding	Pathogenic
13	113115708	A	G	A113115708G	F7	NM_019616.4(F7):c.413A>G:p.Gln138Arg	coding	Pathogenic
13	113115754	C	T	C113115754T	F7	NM_019616.4(F7):c.459C>T:p.His153=	coding	Benign
13	113115778	C	T	C113115778T	F7	NM_019616.4(F7):c.483C>T:p.Asp161=	coding	Benign
13	113116822	C	T	C113116822T	F7	NM_019616.4(F7):c.562C>T:p.Gln188Ter	coding	Pathogenic
13	113118393	G	A	G113118393A	F7	NM_000131.4(F7):c.806-20G>A	noncoding	Benign
13	113118454	C	T	C113118454T	F7	NM_019616.4(F7):c.781C>T:p.Arg261Trp	coding	Pathogenic
13	113118590	T	C	T113118590C	F7	NM_019616.4(F7):c.917T>C:p.Phe306Ser	coding	Pathogenic
13	113118668	C	T	C113118668T	F7	NM_019616.4(F7):c.995C>T:p.Ala332Val	coding	Pathogenic/Likely_pathogenic
13	113118697	C	T	C113118697T	F7	NM_019616.4(F7):c.1024C>T:p.Arg342Trp	coding	Pathogenic/Likely_pathogenic
13	113118716	G	T	G113118716T	F7	NM_019616.4(F7):c.1043G>T:p.Cys348Phe	coding	Pathogenic/Likely_pathogenic
13	113118772	T	G	T113118772G	F7	NM_019616.4(F7):c.1099T>G:p.Cys367Gly	coding	Pathogenic
13	113118777	C	T	C113118777T	F7	NM_019616.4(F7):c.1104C>T:p.Ala368=	coding	Benign/Likely_benign
13	113118831	T	G	T113118831G	F7	NM_019616.4(F7):c.1158T>G:p.His386Gln	coding	Pathogenic
13	113118845	G	A	G113118845A	F7;F10	NM_019616.4(F7):c.1172G>A:p.Arg391Gln	coding	Benign
13	113118854	G	A	G113118854A	F7	NM_019616.4(F7):c.1181G>A:p.Trp394Ter	coding	Pathogenic
13	113129444	C	T	C113129444T	F10	NM_000504.4(F10):c.71-8C>T	noncoding	Benign/Likely_benign
13	113129471	G	C	G113129471C	F10	NM_000504.4(F10):c.90G>C:p.Gln30His	coding	Benign
13	113129492	G	A	G113129492A	F10	NM_000504.4(F10):c.111G>A:p.Arg37=	coding	Benign
13	113138440	T	C	T113138440C	F10	NM_000504.4(F10):c.232-17T>C	noncoding	Benign
13	113140944	C	T	C113140944T	F10	NM_000504.4(F10):c.396C>T:p.Asp132=	coding	Benign/Likely_benign
13	113140947	C	T	C113140947T	F10	NM_000504.4(F10):c.399C>T:p.Asn133=	coding	Benign/Likely_benign
13	113143922	G	A	G113143922A	F10	NM_000504.4(F10):c.574G>A:p.Gly192Arg	coding	Benign
13	113147423	C	T	C113147423T	F10	NM_000504.4(F10):c.792C>T:p.Thr264=	coding	Benign
13	113147490	A	T	A113147490T	F10	NM_000504.4(F10):c.859A>T:p.Arg287Trp	coding	Pathogenic
13	113149146	C	T	C113149146T	F10	NM_000504.4(F10):c.1096C>T:p.Arg366Cys	coding	Pathogenic
13	113149165	G	C	G113149165C	F10	NM_000504.4(F10):c.1115G>C:p.Arg372Pro	coding	Benign
13	113160968	T	C	T113160968C	PROZ	NM_003891.3(PROZ):c.255T>C:p.Tyr85=	coding	Benign
13	113171773	C	T	C113171773T	PROZ	NM_003891.3(PROZ):c.871C>T:p.Leu291Phe	coding	Benign
13	113171805	C	T	C113171805T	PROZ	NM_003891.3(PROZ):c.903C>T:p.Ser301=	coding	Benign
13	113171850	G	A	G113171850A	PROZ	NM_003891.3(PROZ):c.948G>A:p.Thr316=	coding	Benign
13	113178291	C	T	C113178291T	PCID2	NM_001127202.4(PCID2):c.1111-4G>A	noncoding	Benign
13	113190934	C	A	C113190934A	PCID2	NM_001127202.4(PCID2):c.405G>T:p.Gly135=	coding	Benign
13	113306530	G	A	G113306530A	LAMP1	NM_005561.4(LAMP1):c.107G>A:p.Gly36Asp	coding	Benign
13	113309683	T	C	T113309683C	LAMP1	NM_005561.4(LAMP1):c.224T>C:p.Leu75Pro	coding	Benign
13	113309838	C	G	C113309838G	LAMP1	NM_005561.4(LAMP1):c.379C>G:p.Leu127Val	coding	Benign
13	113310871	G	A	G113310871A	LAMP1	NM_005561.4(LAMP1):c.562+4G>A	noncoding	Benign
13	113321630	C	T	C113321630T	LAMP1	NM_005561.4(LAMP1):c.1017C>T:p.Asn339=	coding	Benign
13	113322301	C	T	C113322301T	LAMP1	NM_005561.4(LAMP1):c.1134C>T:p.Asp378=	coding	Benign
13	113322364	C	G	C113322364G	LAMP1	NM_005561.4(LAMP1):c.1197C>G:p.Val399=	coding	Benign
13	113424278	G	A	G113424278A	ADPRHL1	NM_138430.5(ADPRHL1):c.846C>T:p.Asp282=	coding	Benign
13	113453291	C	T	C113453291T	ADPRHL1	NM_138430.5(ADPRHL1):c.147G>A:p.Ser49=	coding	Benign
13	113453418	G	A	G113453418A	ADPRHL1	NM_138430.5(ADPRHL1):c.20C>T:p.Ala7Val	coding	Benign
13	113520651	C	T	C113520651T	TMCO3	NM_017905.6(TMCO3):c.1261C>T:p.Leu421=	coding	Benign
13	113520698	G	A	G113520698A	TMCO3	NM_017905.6(TMCO3):c.1308G>A:p.Pro436=	coding	Benign
13	113539362	G	C	G113539362C	TMCO3	NM_017905.6(TMCO3):c.1545G>C:p.Thr515=	coding	Benign
13	113611016	C	T	C113611016T	TFDP1	NM_007111.5(TFDP1):c.33C>T:p.Asn11=	coding	Benign
13	113636018	G	A	G113636018A	TFDP1	NM_007111.5(TFDP1):c.729G>A:p.Ala243=	coding	Benign
13	113731288	T	A	T113731288A	GRK1	NM_002929.3(GRK1):c.1139T>A:p.Val380Asp	coding	Pathogenic/Likely_pathogenic
13	113731321	C	A	C113731321A	GRK1	NM_002929.3(GRK1):c.1172C>A:p.Pro391His	coding	Pathogenic/Likely_pathogenic
13	113821993	C	T	C113821993T	GAS6	NM_000820.4(GAS6):c.1847G>A:p.Arg616Gln	coding	Benign
13	113822006	C	T	C113822006T	GAS6	NM_000820.4(GAS6):c.1834G>A:p.Glu612Lys	coding	Benign
13	113822049	G	A	G113822049A	GAS6	NM_000820.4(GAS6):c.1791C>T:p.Ser597=	coding	Benign
13	113822101	G	A	G113822101A	GAS6	NM_000820.4(GAS6):c.1739C>T:p.Ser580Leu	coding	Benign
13	113823530	C	T	C113823530T	GAS6	NM_000820.4(GAS6):c.1498G>A:p.Gly500Arg	coding	Benign
13	113823531	G	A	G113823531A	GAS6	NM_000820.4(GAS6):c.1497C>T:p.Val499=	coding	Benign
13	113827152	G	A	G113827152A	GAS6	NM_000820.4(GAS6):c.1321C>T:p.Leu441=	coding	Benign
13	113832760	G	A	G113832760A	GAS6	NM_000820.4(GAS6):c.835-8C>T	noncoding	Benign
13	113835542	G	A	G113835542A	GAS6	NM_000820.4(GAS6):c.683C>T:p.Ala228Val	coding	Benign
13	113979413	G	A	G113979413A	RASA3	NM_007368.4(RASA3):c.2439C>T:p.Pro813=	coding	Benign
13	114007583	C	G	C114007583G	RASA3	NM_007368.4(RASA3):c.1692G>C:p.Ser564=	coding	Benign
13	114015306	G	A	G114015306A	RASA3	NM_007368.4(RASA3):c.1308C>T:p.Arg436=	coding	Benign
13	114242135	C	T	C114242135T	CDC16	NM_001078645.3(CDC16):c.396C>T:p.Ile132=	coding	Benign
13	114323887	G	A	G114323887A	CHAMP1	NM_032436.4(CHAMP1):c.45G>A:p.Glu15=	coding	Benign
13	114324245	C	T	C114324245T	CHAMP1	NM_032436.4(CHAMP1):c.403C>T:p.Gln135Ter	coding	Pathogenic
13	114324336	C	T	C114324336T	CHAMP1	NM_032436.4(CHAMP1):c.494C>T:p.Pro165Leu	coding	Benign
13	114324517	C	A	C114324517A	CHAMP1	NM_032436.4(CHAMP1):c.675C>A:p.Pro225=	coding	Benign
13	114324518	A	T	A114324518T	CHAMP1	NM_032436.4(CHAMP1):c.676A>T:p.Lys226Ter	coding	Pathogenic
13	114324551	T	C	T114324551C	CHAMP1	NM_032436.4(CHAMP1):c.709T>C:p.Leu237=	coding	Benign
13	114324597	C	T	C114324597T	CHAMP1	NM_032436.4(CHAMP1):c.755C>T:p.Ala252Val	coding	Benign/Likely_benign
13	114324729	T	C	T114324729C	CHAMP1	NM_032436.4(CHAMP1):c.887T>C:p.Val296Ala	coding	Benign
13	114324768	C	T	C114324768T	CHAMP1	NM_032436.4(CHAMP1):c.926C>T:p.Pro309Leu	coding	Benign
13	114324793	T	C	T114324793C	CHAMP1	NM_032436.4(CHAMP1):c.951T>C:p.Pro317=	coding	Benign
13	114324844	G	A	G114324844A	CHAMP1	NM_032436.4(CHAMP1):c.1002G>A:p.Trp334Ter	coding	Pathogenic
13	114325034	C	T	C114325034T	CHAMP1	NM_032436.4(CHAMP1):c.1192C>T:p.Arg398Ter	coding	Pathogenic
13	114325153	A	G	A114325153G	CHAMP1	NM_032436.4(CHAMP1):c.1311A>G:p.Pro437=	coding	Benign
13	114325205	C	T	C114325205T	CHAMP1	NM_032436.4(CHAMP1):c.1363C>T:p.Gln455Ter	coding	Pathogenic
13	114325331	C	T	C114325331T	CHAMP1	NM_032436.4(CHAMP1):c.1489C>T:p.Arg497Ter	coding	Pathogenic
13	114325363	C	A	C114325363A	CHAMP1	NM_032436.4(CHAMP1):c.1521C>A:p.Ser507=	coding	Benign
13	114325386	G	A	G114325386A	CHAMP1	NM_032436.4(CHAMP1):c.1544G>A:p.Trp515Ter	coding	Pathogenic
13	114325499	G	T	G114325499T	CHAMP1	NM_032436.4(CHAMP1):c.1657G>T:p.Glu553Ter	coding	Pathogenic
13	114325544	C	G	C114325544G	CHAMP1	NM_032436.4(CHAMP1):c.1702C>G:p.Leu568Val	coding	Benign
13	114325610	C	T	C114325610T	CHAMP1	NM_032436.4(CHAMP1):c.1768C>T:p.Gln590Ter	coding	Pathogenic
13	114325700	A	T	A114325700T	CHAMP1	NM_032436.4(CHAMP1):c.1858A>T:p.Lys620Ter	coding	Pathogenic
13	114325787	C	T	C114325787T	CHAMP1	NM_032436.4(CHAMP1):c.1945C>T:p.Gln649Ter	coding	Pathogenic
13	114325794	C	G	C114325794G	CHAMP1	NM_032436.4(CHAMP1):c.1952C>G:p.Ser651Ter	coding	Pathogenic
13	114325811	C	T	C114325811T	CHAMP1	NM_032436.4(CHAMP1):c.1969C>T:p.Gln657Ter	coding	Pathogenic
13	114325855	G	C	G114325855C	CHAMP1	NM_032436.4(CHAMP1):c.2013G>C:p.Met671Ile	coding	Benign
13	114325867	T	C	T114325867C	CHAMP1	NM_032436.4(CHAMP1):c.2025T>C:p.Ser675=	coding	Benign
13	114325969	T	G	T114325969G	CHAMP1	NM_032436.4(CHAMP1):c.2127T>G:p.Tyr709Ter	coding	Pathogenic/Likely_pathogenic
13	114326251	T	G	T114326251G	CHAMP1	NM_032436.4(CHAMP1):c.2409T>G:p.Leu803=	coding	Benign
14	19780619	A	G	A19780619G	OR4M1	NM_001005500.1(OR4M1):c.297A>G:p.Ala99=	coding	Benign
14	20351068	G	A	G20351068A	PARP2	NM_005484.3(PARP2):c.482G>A:p.Ser161Asn	coding	Benign
14	20355963	T	C	T20355963C	PARP2	NM_005484.3(PARP2):c.1072T>C:p.Leu358=	coding	Benign
14	20357716	T	C	T20357716C	PARP2	NM_005484.3(PARP2):c.1671T>C:p.Asn557=	coding	Benign
14	20368557	C	T	C20368557T	TEP1	NM_007110.5(TEP1):c.7764G>A:p.Leu2588=	coding	Benign
14	20368894	C	T	C20368894T	TEP1	NM_007110.5(TEP1):c.7665G>A:p.Ser2555=	coding	Benign
14	20374454	C	T	C20374454T	TEP1	NM_007110.5(TEP1):c.6446G>A:p.Ser2149Asn	coding	Benign
14	20378768	C	G	C20378768G	TEP1	NM_007110.5(TEP1):c.5338G>C:p.Gly1780Arg	coding	Benign
14	20380256	C	T	C20380256T	TEP1	NM_007110.5(TEP1):c.4982G>A:p.Arg1661Gln	coding	Benign
14	20380958	G	A	G20380958A	TEP1	NM_007110.5(TEP1):c.4735C>T:p.Arg1579Trp	coding	Benign
14	20384150	G	A	G20384150A	TEP1	NM_007110.5(TEP1):c.3422C>T:p.Pro1141Leu	coding	Benign
14	20384409	G	A	G20384409A	TEP1	NM_007110.5(TEP1):c.3321C>T:p.Ile1107=	coding	Benign
14	20386510	C	T	C20386510T	TEP1	NM_007110.5(TEP1):c.2798G>A:p.Arg933His	coding	Benign
14	20389307	G	T	G20389307T	TEP1	NM_007110.5(TEP1):c.2466-10C>A	noncoding	Benign
14	20396659	G	A	G20396659A	TEP1	NM_007110.5(TEP1):c.1621C>T:p.Arg541Cys	coding	Benign
14	20408278	C	T	C20408278T	TEP1	NM_007110.5(TEP1):c.162G>A:p.Thr54=	coding	Benign
14	20447274	C	T	C20447274T	OSGEP	NM_017807.4(OSGEP):c.974G>A:p.Arg325Gln	coding	Pathogenic
14	20447645	C	T	C20447645T	OSGEP	NM_017807.4(OSGEP):c.839G>A:p.Arg280His	coding	Pathogenic
14	20447957	C	T	C20447957T	OSGEP	NM_017807.4(OSGEP):c.740G>A:p.Arg247Gln	coding	Pathogenic
14	20448141	C	T	C20448141T	OSGEP	NM_017807.4(OSGEP):c.667G>A:p.Glu223Lys	coding	Benign
14	20448991	C	G	C20448991G	OSGEP	NM_017807.4(OSGEP):c.530G>C:p.Gly177Ala	coding	Pathogenic
14	20449275	G	A	G20449275A	OSGEP	NM_017807.4(OSGEP):c.412-9C>T	noncoding	Benign
14	20452053	A	G	A20452053G	OSGEP	NM_017807.4(OSGEP):c.332T>C:p.Ile111Thr	coding	Pathogenic
14	20452057	A	G	A20452057G	OSGEP	NM_017807.4(OSGEP):c.328T>C:p.Cys110Arg	coding	Pathogenic
14	20452154	G	C	G20452154C	OSGEP	NM_017807.4(OSGEP):c.236-5C>G	noncoding	Benign
14	20454644	T	A	T20454644A	OSGEP	NM_017807.4(OSGEP):c.40A>T:p.Ile14Phe	coding	Pathogenic
14	20456045	A	G	A20456045G	APEX1	NM_001641.4(APEX1):c.190A>G:p.Ile64Val	coding	Benign
14	20457272	G	A	G20457272A	APEX1	NM_001641.4(APEX1):c.721G>A:p.Gly241Arg	coding	Benign
14	20457358	T	C	T20457358C	APEX1	NM_001641.4(APEX1):c.807T>C:p.Tyr269=	coding	Benign
14	20458637	C	G	C20458637G	PIP4P1	NM_001100814.2(PIP4P1):c.777G>C:p.Leu259=	coding	Benign
14	20469429	G	A	G20469429A	PNP	NM_000270.3(PNP):c.-96G>A	noncoding	Benign
14	20469434	G	T	G20469434T	PNP	NM_000270.3(PNP):c.-91G>T	noncoding	Benign
14	20469442	C	G	C20469442G	PNP	NM_000270.3(PNP):c.-83C>G	noncoding	Benign
14	20472290	A	T	A20472290T	PNP	NM_000270.3(PNP):c.12-18A>T	noncoding	Benign
14	20472299	C	A	C20472299A	PNP	NM_000270.3(PNP):c.12-9C>A	noncoding	Benign
14	20472356	C	T	C20472356T	PNP	NM_000270.4(PNP):c.60C>T:p.His20=	coding	Benign
14	20472366	C	T	C20472366T	PNP	NM_000270.3(PNP):c.70C>T:p.Arg24Ter	coding	Pathogenic
14	20472447	G	A	G20472447A	PNP	NM_000270.4(PNP):c.151G>A:p.Gly51Ser	coding	Benign
14	20472467	C	T	C20472467T	PNP	NM_000270.4(PNP):c.171C>T:p.Pro57=	coding	Benign
14	20472468	C	T	C20472468T	PNP	NM_000270.3(PNP):c.172C>T:p.Arg58Ter	coding	Pathogenic
14	20474576	G	A	G20474576A	PNP	NM_000270.3(PNP):c.285+1G>A	coding	Pathogenic
14	20474585	A	G	A20474585G	PNP	NM_000270.4(PNP):c.285+10A>G	noncoding	Benign
14	20474755	G	A	G20474755A	PNP	NM_000270.4(PNP):c.286-18G>A	noncoding	Pathogenic/Likely_pathogenic
14	20474870	A	G	A20474870G	PNP	NM_000270.3(PNP):c.383A>G:p.Asp128Gly	coding	Pathogenic
14	20475120	G	C	G20475120C	PNP	NM_000270.3(PNP):c.520G>C:p.Ala174Pro	coding	Pathogenic
14	20475175	A	G	A20475175G	PNP	NM_000270.3(PNP):c.575A>G:p.Tyr192Cys	coding	Pathogenic
14	20475249	G	A	G20475249A	PNP	NM_000270.3(PNP):c.649G>A:p.Val217Ile	coding	Benign
14	20476380	T	C	T20476380C	PNP	NM_000270.3(PNP):c.653-4T>C	noncoding	Benign/Likely_benign
14	20476410	G	A	G20476410A	PNP	NM_000270.3(PNP):c.679G>A:p.Val227Ile	coding	Benign/Likely_benign
14	20476432	G	C	G20476432C	PNP	NM_000270.3(PNP):c.701G>C:p.Arg234Pro	coding	Pathogenic/Likely_pathogenic
14	20476855	C	T	C20476855T	PNP	NM_000270.3(PNP):c.*254C>T	noncoding	Benign
14	20477196	C	T	C20477196T	PNP	NM_000270.3(PNP):c.*595C>T	noncoding	Benign
14	20477329	T	C	T20477329C	PNP	NM_000270.3(PNP):c.*728T>C	noncoding	Benign
14	20477412	G	A	G20477412A	PNP	NM_000270.3(PNP):c.*811G>A	noncoding	Benign
14	20477417	C	T	C20477417T	PNP	NM_000270.3(PNP):c.*816C>T	noncoding	Benign
14	20477658	T	C	T20477658C	PNP	NM_000270.3(PNP):c.*1057T>C	noncoding	Benign
14	20477747	A	C	A20477747C	PNP	NM_000270.3(PNP):c.*1146A>C	noncoding	Benign
14	20477799	T	C	T20477799C	PNP	NM_000270.3(PNP):c.*1198T>C	noncoding	Benign
14	20477834	T	C	T20477834C	PNP	NM_000270.3(PNP):c.*1233T>C	noncoding	Benign
14	20477873	T	C	T20477873C	PNP	NM_000270.3(PNP):c.*1272T>C	noncoding	Benign
14	20477943	A	T	A20477943T	PNP	NM_000270.3(PNP):c.*1342A>T	noncoding	Benign
14	20477992	T	C	T20477992C	PNP	NM_000270.3(PNP):c.*1391T>C	noncoding	Benign
14	20684198	G	C	G20684198C	ANG	NM_001145.4(ANG):c.-579G>C	noncoding	Benign
14	20684243	C	T	C20684243T	ANG	NM_001145.4(ANG):c.-534C>T	noncoding	Benign
14	20684247	T	C	T20684247C	ANG	NM_001145.4(ANG):c.-530T>C	noncoding	Benign
14	20684354	C	T	C20684354T	ANG	NM_001145.4(ANG):c.-423C>T	noncoding	Benign
14	20684376	G	T	G20684376T	ANG	NM_001145.4(ANG):c.-401G>T	noncoding	Benign
14	20684394	C	G	C20684394G	ANG	NM_001145.4(ANG):c.-383C>G	noncoding	Benign
14	20684445	C	A	C20684445A	ANG	NM_001145.4(ANG):c.-332C>A	noncoding	Benign
14	20684540	A	C	A20684540C	ANG	NM_001145.4(ANG):c.-237A>C	noncoding	Benign
14	20684736	T	C	T20684736C	ANG	NM_002937.5(RNASE4):c.-40T>C	noncoding	Benign
14	20693626	C	A	C20693626A	ANG	NM_001097577.3(ANG):c.62C>A:p.Pro21Gln	coding	Benign
14	20693671	A	T	A20693671T	ANG	NM_002937.5(RNASE4):c.-17-5684A>T	coding	Pathogenic
14	20693685	A	G	A20693685G	ANG	NM_002937.5(RNASE4):c.-17-5670A>G	coding	Pathogenic
14	20693719	G	A	G20693719A	ANG	NM_002937.5(RNASE4):c.-17-5636G>A	coding	Pathogenic
14	20693728	G	A	G20693728A	ANG	NM_002937.5(RNASE4):c.-17-5627G>A	coding	Pathogenic
14	20693753	C	G	C20693753G	ANG	NM_002937.5(RNASE4):c.-17-5602C>G	coding	Pathogenic
14	20693755	A	T	A20693755T	ANG	NM_002937.5(RNASE4):c.-17-5600A>T	coding	Pathogenic
14	20693814	A	G	A20693814G	ANG	NM_001097577.3(ANG):c.250A>G:p.Lys84Glu	coding	Benign
14	20693894	T	G	T20693894G	ANG	NM_001097577.3(ANG):c.330T>G:p.Gly110=	coding	Benign
14	20693927	A	T	A20693927T	ANG	NM_001097577.3(ANG):c.363A>T:p.Thr121=	coding	Benign
14	20693971	C	T	C20693971T	ANG	NM_002937.5(RNASE4):c.-17-5384C>T	coding	Pathogenic
14	20693973	G	A	G20693973A	ANG	NM_002937.5(RNASE4):c.-17-5382G>A	coding	Pathogenic
14	21001082	C	T	C21001082T	SLC39A2	NM_014579.4(SLC39A2):c.433C>T:p.His145Tyr	coding	Benign
14	21001210	G	A	G21001210A	SLC39A2	NM_014579.4(SLC39A2):c.561G>A:p.Pro187=	coding	Benign
14	21018512	A	G	A21018512G	NDRG2	NM_001320329.1(NDRG2):c.814-8T>C	noncoding	Benign
14	21022423	C	A	C21022423A	NDRG2	NM_001320329.1(NDRG2):c.192G>T:p.Ala64=	coding	Benign
14	21022482	T	A	T21022482A	NDRG2	NM_001320329.1(NDRG2):c.133A>T:p.Thr45Ser	coding	Benign
14	21032059	C	G	C21032059G	TPPP2	NM_173846.5(TPPP2):c.495C>G:p.Tyr165Ter	coding	Benign
14	21074934	C	T	C21074934T	ARHGEF40	NM_018071.5(ARHGEF40):c.1204C>T:p.Pro402Ser	coding	Benign
14	21075355	C	T	C21075355T	ARHGEF40	NM_018071.5(ARHGEF40):c.1474C>T:p.Leu492=	coding	Benign
14	21080754	G	A	G21080754A	ARHGEF40	NM_018071.5(ARHGEF40):c.2468G>A:p.Arg823Gln	coding	Benign
14	21082340	G	A	G21082340A	ARHGEF40	NM_018071.5(ARHGEF40):c.3348G>A:p.Thr1116=	coding	Benign
14	21294745	C	T	C21294745T	RPGRIP1	NM_020366.3(RPGRIP1):c.154C>T:p.Arg52Ter	coding	Pathogenic
14	21294785	G	A	G21294785A	RPGRIP1	NM_020366.3(RPGRIP1):c.194G>A:p.Trp65Ter	coding	Pathogenic
14	21301003	C	T	C21301003T	RPGRIP1	NM_020366.3(RPGRIP1):c.256C>T:p.Arg86Trp	coding	Benign
14	21301034	C	A	C21301034A	RPGRIP1	NM_020366.3(RPGRIP1):c.287C>A:p.Pro96Gln	coding	Benign
14	21301197	C	G	C21301197G	RPGRIP1	NM_020366.3(RPGRIP1):c.450C>G:p.Leu150=	coding	Benign/Likely_benign
14	21302522	A	G	A21302522G	RPGRIP1	NM_020366.3(RPGRIP1):c.525A>G:p.Pro175=	coding	Benign
14	21302571	A	G	A21302571G	RPGRIP1	NM_020366.3(RPGRIP1):c.574A>G:p.Lys192Glu	coding	Benign
14	21303542	C	T	C21303542T	RPGRIP1	NM_020366.3(RPGRIP1):c.799C>T:p.Arg267Ter	coding	Pathogenic
14	21303544	G	A	G21303544A	RPGRIP1	NM_020366.3(RPGRIP1):c.800+1G>A	coding	Pathogenic/Likely_pathogenic
14	21307762	C	T	C21307762T	RPGRIP1	NM_020366.3(RPGRIP1):c.832C>T:p.Arg278Ter	coding	Pathogenic
14	21307767	T	C	T21307767C	RPGRIP1	NM_020366.3(RPGRIP1):c.837T>C:p.Leu279=	coding	Benign
14	21317763	C	T	C21317763T	RPGRIP1	NM_001377523.1(RPGRIP1):c.145C>T:p.Gln49Ter	coding	Pathogenic
14	21317847	A	T	A21317847T	RPGRIP1	NM_020366.3(RPGRIP1):c.1303A>T:p.Lys435Ter	coding	Pathogenic
14	21320157	C	T	C21320157T	RPGRIP1	NM_020366.4(RPGRIP1):c.1447C>T:p.Gln483Ter	coding	Pathogenic
14	21320996	G	C	G21320996C	RPGRIP1	NM_020366.3(RPGRIP1):c.1468-263G>C	noncoding	Pathogenic
14	21321257	A	G	A21321257G	RPGRIP1	NM_020366.3(RPGRIP1):c.1468-2A>G	noncoding	Pathogenic
14	21321881	G	T	G21321881T	RPGRIP1	NM_020366.3(RPGRIP1):c.1639G>T:p.Ala547Ser	coding	Benign
14	21321929	C	T	C21321929T	RPGRIP1	NM_020366.4(RPGRIP1):c.1687C>T:p.Arg563Ter	coding	Pathogenic
14	21324622	G	T	G21324622T	RPGRIP1	NM_020366.3(RPGRIP1):c.1767G>T:p.Gln589His	coding	Benign/Likely_benign
14	21324648	G	A	G21324648A	RPGRIP1	NM_020366.3(RPGRIP1):c.1793G>A:p.Arg598Gln	coding	Benign
14	21324652	G	A	G21324652A	RPGRIP1	NM_020366.3(RPGRIP1):c.1797G>A:p.Pro599=	coding	Benign
14	21324747	A	G	A21324747G	RPGRIP1	NM_020366.3(RPGRIP1):c.1892A>G:p.His631Arg	coding	Pathogenic
14	21324747	A	T	A21324747T	RPGRIP1	NM_020366.3(RPGRIP1):c.1892A>T:p.His631Leu	coding	Pathogenic
14	21324872	C	T	C21324872T	RPGRIP1	NM_020366.3(RPGRIP1):c.2017C>T:p.Gln673Ter	coding	Pathogenic
14	21324892	C	T	C21324892T	RPGRIP1	NM_020366.3(RPGRIP1):c.2037C>T:p.Thr679=	coding	Benign
14	21324941	G	T	G21324941T	RPGRIP1	NM_020366.4(RPGRIP1):c.2086G>T:p.Glu696Ter	coding	Pathogenic
14	21324955	G	T	G21324955T	RPGRIP1	NM_020366.3(RPGRIP1):c.2100G>T:p.Arg700=	coding	Benign
14	21325077	G	A	G21325077A	RPGRIP1	NM_020366.3(RPGRIP1):c.2215+7G>A	noncoding	Benign
14	21325308	G	A	G21325308A	RPGRIP1	NM_020366.3(RPGRIP1):c.2292G>A:p.Ala764=	coding	Benign
14	21325372	C	T	C21325372T	RPGRIP1	NM_020366.3(RPGRIP1):c.2356C>T:p.Gln786Ter	coding	Pathogenic
14	21325829	A	G	A21325829G	RPGRIP1	NM_020366.3(RPGRIP1):c.2368-2A>G	noncoding	Pathogenic/Likely_pathogenic
14	21325880	C	T	C21325880T	RPGRIP1	NM_020366.3(RPGRIP1):c.2417C>T:p.Thr806Ile	coding	Benign
14	21325895	T	A	T21325895A	RPGRIP1	NM_020366.3(RPGRIP1):c.2432T>A:p.Leu811His	coding	Pathogenic
14	21325903	C	T	C21325903T	RPGRIP1	NM_020366.3(RPGRIP1):c.2440C>T:p.Arg814Ter	coding	Pathogenic
14	21325943	G	T	G21325943T	RPGRIP1	NM_020366.3(RPGRIP1):c.2480G>T:p.Arg827Leu	coding	Pathogenic
14	21326017	C	T	C21326017T	RPGRIP1	NM_020366.3(RPGRIP1):c.2554C>T:p.Arg852Ter	coding	Pathogenic/Likely_pathogenic
14	21326131	C	T	C21326131T	RPGRIP1	NM_020366.3(RPGRIP1):c.2668C>T:p.Arg890Ter	coding	Pathogenic
14	21326174	G	A	G21326174A	RPGRIP1	NM_020366.4(RPGRIP1):c.2710+1G>A	coding	Pathogenic
14	21327687	G	A	G21327687A	RPGRIP1	NM_020366.3(RPGRIP1):c.2775G>A:p.Trp925Ter	coding	Pathogenic
14	21327808	G	A	G21327808A	RPGRIP1	NM_020366.4(RPGRIP1):c.2895+1G>A	coding	Pathogenic
14	21327808	G	T	G21327808T	RPGRIP1	NM_020366.4(RPGRIP1):c.2895+1G>T	coding	Pathogenic
14	21328463	C	T	C21328463T	RPGRIP1	NM_020366.3(RPGRIP1):c.2935C>T:p.Gln979Ter	coding	Pathogenic
14	21328469	C	T	C21328469T	RPGRIP1	NM_020366.3(RPGRIP1):c.2941C>T:p.Arg981Ter	coding	Pathogenic
14	21328625	G	C	G21328625C	RPGRIP1	NM_020366.3(RPGRIP1):c.3097G>C:p.Glu1033Gln	coding	Benign
14	21330388	G	A	G21330388A	RPGRIP1	NM_020366.3(RPGRIP1):c.3238+1G>A	coding	Pathogenic
14	21343021	C	T	C21343021T	RPGRIP1	NM_020366.3(RPGRIP1):c.3340-15C>T	noncoding	Benign/Likely_benign
14	21343037	A	G	A21343037G	RPGRIP1	NM_020366.3(RPGRIP1):c.3341A>G:p.Asp1114Gly	coding	Benign/Likely_benign
14	21343143	C	T	C21343143T	RPGRIP1	NM_020366.3(RPGRIP1):c.3447C>T:p.Tyr1149=	coding	Benign
14	21345126	C	T	C21345126T	RPGRIP1	NM_020366.3(RPGRIP1):c.3546C>T:p.Asp1182=	coding	Benign/Likely_benign
14	21345145	C	T	C21345145T	RPGRIP1	NM_020366.3(RPGRIP1):c.3565C>T:p.Arg1189Ter	coding	Pathogenic
14	21345198	G	A	G21345198A	RPGRIP1	NM_020366.3(RPGRIP1):c.3617+1G>A	coding	Pathogenic
14	21348273	G	A	G21348273A	RPGRIP1	NM_020366.3(RPGRIP1):c.3719G>A:p.Gly1240Glu	coding	Benign/Likely_benign
14	21351098	C	A	C21351098A	RPGRIP1	NM_020366.3(RPGRIP1):c.3749-6C>A	noncoding	Benign
14	21351226	T	C	T21351226C	RPGRIP1	NM_020366.3(RPGRIP1):c.*10T>C	noncoding	Benign/Likely_benign
14	21353513	A	G	A21353513G	SUPT16H	NM_007192.4(SUPT16H):c.2973T>C:p.Asp991=	coding	Benign
14	21359604	G	A	G21359604A	SUPT16H	NM_007192.4(SUPT16H):c.2181C>T:p.Ala727=	coding	Benign
14	21368447	G	C	G21368447C	SUPT16H	NM_007192.4(SUPT16H):c.783-6C>G	noncoding	Benign
14	21371928	C	T	C21371928T	SUPT16H	NM_007192.4(SUPT16H):c.276G>A:p.Lys92=	coding	Benign
14	21373365	A	G	A21373365G	SUPT16H	NM_007192.4(SUPT16H):c.132T>C:p.Ile44=	coding	Benign
14	21385694	A	G	A21385694G	CHD8	NM_001170629.2(CHD8):c.7665T>C:p.Asp2555=	coding	Benign
14	21386156	C	T	C21386156T	CHD8	NM_001170629.2(CHD8):c.7203G>A:p.Val2401=	coding	Benign
14	21391492	C	T	C21391492T	CHD8	NM_001170629.2(CHD8):c.7036G>A:p.Glu2346Lys	coding	Benign/Likely_benign
14	21392548	G	A	G21392548A	CHD8	NM_001170629.2(CHD8):c.6730C>T:p.Arg2244Ter	coding	Pathogenic
14	21392628	C	T	C21392628T	CHD8	NM_001170629.2(CHD8):c.6650G>A:p.Arg2217Gln	coding	Benign
14	21392629	G	A	G21392629A	CHD8	NM_001170629.2(CHD8):c.6649C>T:p.Arg2217Ter	coding	Pathogenic
14	21392707	A	G	A21392707G	CHD8	NM_001170629.2(CHD8):c.6571T>C:p.Leu2191=	coding	Benign
14	21392741	G	A	G21392741A	CHD8	NM_001170629.2(CHD8):c.6537C>T:p.Ser2179=	coding	Benign
14	21392760	G	T	G21392760T	CHD8	NM_001170629.2(CHD8):c.6518C>A:p.Ser2173Ter	coding	Pathogenic
14	21393483	C	T	C21393483T	CHD8	NM_001170629.2(CHD8):c.6312G>A:p.Glu2104=	coding	Benign/Likely_benign
14	21393552	A	T	A21393552T	CHD8	NM_001170629.2(CHD8):c.6243T>A:p.Ser2081=	coding	Benign
14	21393563	G	A	G21393563A	CHD8	NM_001170629.2(CHD8):c.6232C>T:p.Leu2078=	coding	Benign
14	21393588	C	T	C21393588T	CHD8	NM_001170629.2(CHD8):c.6207G>A:p.Ser2069=	coding	Benign/Likely_benign
14	21393676	T	C	T21393676C	CHD8	NM_001170629.2(CHD8):c.6119A>G:p.Asp2040Gly	coding	Benign
14	21393692	G	A	G21393692A	CHD8	NM_001170629.2(CHD8):c.6103C>T:p.Arg2035Ter	coding	Pathogenic
14	21393741	A	G	A21393741G	CHD8	NM_001170629.2(CHD8):c.6054T>C:p.Ser2018=	coding	Benign/Likely_benign
14	21394376	G	A	G21394376A	CHD8	NM_001170629.2(CHD8):c.5500C>T:p.Arg1834Ter	coding	Pathogenic
14	21394913	G	A	G21394913A	CHD8	NM_001170629.2(CHD8):c.5389C>T:p.Arg1797Ter	coding	Pathogenic
14	21395823	A	G	A21395823G	CHD8	NM_001170629.2(CHD8):c.5121T>C:p.Asp1707=	coding	Benign
14	21397867	T	C	T21397867C	CHD8	NM_001170629.2(CHD8):c.5007A>G:p.Ala1669=	coding	Benign
14	21399595	T	C	T21399595C	CHD8	NM_001170629.2(CHD8):c.4921+7A>G	noncoding	Benign
14	21399652	C	T	C21399652T	CHD8	NM_001170629.2(CHD8):c.4871G>A:p.Trp1624Ter	coding	Pathogenic
14	21399989	C	T	C21399989T	CHD8	NM_001170629.2(CHD8):c.4809G>A:p.Ala1603=	coding	Benign
14	21400317	G	T	G21400317T	CHD8	NM_001170629.2(CHD8):c.4571-10C>A	noncoding	Benign
14	21400569	G	A	G21400569A	CHD8	NM_001170629.2(CHD8):c.4414C>T:p.Arg1472Ter	coding	Pathogenic
14	21400605	G	A	G21400605A	CHD8	NM_001170629.2(CHD8):c.4378C>T:p.Arg1460Ter	coding	Pathogenic
14	21401445	C	T	C21401445T	CHD8	NM_001170629.2(CHD8):c.4131G>A:p.Trp1377Ter	coding	Pathogenic
14	21402010	G	A	G21402010A	CHD8	NM_001170629.2(CHD8):c.4009C>T:p.Arg1337Ter	coding	Pathogenic
14	21402335	C	T	C21402335T	CHD8	NM_001170629.2(CHD8):c.3882+1G>A	noncoding	Pathogenic
14	21402485	G	A	G21402485A	CHD8	NM_001170629.2(CHD8):c.3733C>T:p.Arg1245Ter	coding	Pathogenic
14	21402494	G	A	G21402494A	CHD8	NM_001170629.2(CHD8):c.3724C>T:p.Arg1242Ter	coding	Pathogenic
14	21403045	G	T	G21403045T	CHD8	NM_001170629.2(CHD8):c.3686C>A:p.Ser1229Ter	coding	Pathogenic
14	21403169	G	A	G21403169A	CHD8	NM_001170629.2(CHD8):c.3562C>T:p.Arg1188Ter	coding	Pathogenic
14	21403207	A	C	A21403207C	CHD8	NM_001170629.2(CHD8):c.3524T>G:p.Leu1175Ter	coding	Pathogenic
14	21403209	G	T	G21403209T	CHD8	NM_001170629.2(CHD8):c.3522C>A:p.Tyr1174Ter	coding	Pathogenic
14	21403494	C	T	C21403494T	CHD8	NM_001170629.2(CHD8):c.3477G>A:p.Val1159=	coding	Benign
14	21405770	G	C	G21405770C	CHD8	NM_001170629.2(CHD8):c.3002C>G:p.Ser1001Ter	coding	Pathogenic
14	21405780	G	A	G21405780A	CHD8	NM_001170629.2(CHD8):c.2992C>T:p.Gln998Ter	coding	Pathogenic
14	21406909	G	A	G21406909A	CHD8	NM_001170629.2(CHD8):c.2854C>T:p.Arg952Ter	coding	Pathogenic
14	21406968	G	C	G21406968C	CHD8	NM_001170629.2(CHD8):c.2795C>G:p.Ser932Ter	coding	Pathogenic
14	21408416	G	A	G21408416A	CHD8	NM_001170629.2(CHD8):c.2626C>T:p.Arg876Ter	coding	Pathogenic
14	21408557	T	C	T21408557C	CHD8	NM_001170629.2(CHD8):c.2487-2A>G	noncoding	Pathogenic
14	21408817	C	T	C21408817T	CHD8	NM_001170629.2(CHD8):c.2373G>A:p.Pro791=	coding	Benign
14	21414350	A	C	A21414350C	CHD8	NM_001170629.2(CHD8):c.2093T>G:p.Leu698Ter	coding	Pathogenic
14	21415781	G	A	G21415781A	CHD8	NM_001170629.2(CHD8):c.1843C>T:p.Pro615Ser	coding	Benign
14	21415802	T	C	T21415802C	CHD8	NM_001170629.2(CHD8):c.1822A>G:p.Ile608Val	coding	Benign
14	21415897	G	T	G21415897T	CHD8	NM_001170629.2(CHD8):c.1727C>A:p.Ser576Ter	coding	Pathogenic
14	21415911	T	C	T21415911C	CHD8	NM_001170629.2(CHD8):c.1717-4A>G	noncoding	Benign/Likely_benign
14	21426154	G	A	G21426154A	CHD8	NM_001170629.2(CHD8):c.1690C>T:p.Arg564Ter	coding	Pathogenic/Likely_pathogenic
14	21427930	C	A	C21427930A	CHD8	NM_001170629.2(CHD8):c.1540G>T:p.Glu514Ter	coding	Pathogenic
14	21428033	G	A	G21428033A	CHD8	NM_001170629.2(CHD8):c.1437C>T:p.Asn479=	coding	Benign
14	21428119	T	A	T21428119A	CHD8	NM_001170629.2(CHD8):c.1351A>T:p.Arg451Ter	coding	Pathogenic
14	21429308	G	A	G21429308A	CHD8	NM_001170629.2(CHD8):c.871C>T:p.Leu291Phe	coding	Benign/Likely_benign
14	21430917	G	A	G21430917A	CHD8	NM_001170629.2(CHD8):c.727C>T:p.Arg243Ter	coding	Pathogenic
14	21431010	G	A	G21431010A	CHD8	NM_001170629.2(CHD8):c.634C>T:p.Arg212Ter	coding	Pathogenic
14	21431382	C	T	C21431382T	CHD8	NM_001170629.2(CHD8):c.262G>A:p.Glu88Lys	coding	Benign/Likely_benign
14	21431472	C	T	C21431472T	CHD8	NM_001170629.2(CHD8):c.172G>A:p.Val58Met	coding	Benign
14	21431499	T	C	T21431499C	CHD8	NM_001170629.2(CHD8):c.145A>G:p.Met49Val	coding	Benign
14	21431502	G	A	G21431502A	CHD8	NM_001170629.2(CHD8):c.142C>T:p.Gln48Ter	coding	Pathogenic
14	21431617	G	A	G21431617A	CHD8	NM_001170629.2(CHD8):c.27C>T:p.Phe9=	coding	Benign/Likely_benign
14	21523209	G	C	G21523209C	SALL2	NM_001364564.1(SALL2):c.2513C>G:p.Pro838Arg	coding	Benign
14	21523215	G	A	G21523215A	SALL2	NM_001364564.1(SALL2):c.2507C>T:p.Pro836Leu	coding	Benign
14	21523492	G	C	G21523492C	SALL2	NM_001364564.1(SALL2):c.2230C>G:p.Arg744Gly	coding	Benign
14	21523670	A	G	A21523670G	SALL2	NM_001364564.1(SALL2):c.2052T>C:p.Ala684=	coding	Benign
14	21524192	C	G	C21524192G	SALL2	NM_001364564.1(SALL2):c.1530G>C:p.Val510=	coding	Benign
14	21524263	T	C	T21524263C	SALL2	NM_001364564.1(SALL2):c.1459A>G:p.Ser487Gly	coding	Benign
14	21524276	G	A	G21524276A	SALL2	NM_001364564.1(SALL2):c.1446C>T:p.Leu482=	coding	Benign
14	21525225	G	A	G21525225A	SALL2	NM_001364564.1(SALL2):c.497C>T:p.Pro166Leu	coding	Benign
14	21525364	A	G	A21525364G	SALL2	NM_001364564.1(SALL2):c.358T>C:p.Ser120Pro	coding	Benign
14	21525643	C	A	C21525643A	SALL2	NM_001364564.1(SALL2):c.79G>T:p.Glu27Ter	coding	Pathogenic
14	22550664	G	A	G22550664A	TRAC	NG_001332.2:g.1074699G>A	noncoding	Pathogenic
14	22769791	G	T	G22769791T	OXA1L	NM_005015.5(OXA1L):c.440G>T:p.Cys147Phe	coding	Pathogenic
14	22771029	G	T	G22771029T	OXA1L	NM_005015.5(OXA1L):c.951G>T:p.Met317Ile	coding	Benign
14	22773619	T	C	T22773619C	SLC7A7	NM_001126106.2(SLC7A7):c.1527A>G:p.Lys509=	coding	Benign
14	22773960	G	A	G22773960A	SLC7A7	NM_001126105.2(SLC7A7):c.1402C>T:p.Arg468Ter	coding	Pathogenic/Likely_pathogenic
14	22774344	G	A	G22774344A	SLC7A7	NM_003982.4(SLC7A7):c.1245+10C>T	noncoding	Benign
14	22774371	G	A	G22774371A	SLC7A7	NM_003982.4(SLC7A7):c.1228C>T:p.Arg410Ter	coding	Pathogenic
14	22774477	G	T	G22774477T	SLC7A7	NM_001126106.2(SLC7A7):c.1122C>A:p.Cys374Ter	coding	Pathogenic
14	22774480	C	T	C22774480T	SLC7A7	NM_001126106.2(SLC7A7):c.1119G>A:p.Leu373=	coding	Benign/Likely_benign
14	22775538	A	C	A22775538C	SLC7A7	NM_001126106.2(SLC7A7):c.1001T>G:p.Leu334Arg	coding	Pathogenic
14	22775938	T	A	T22775938A	SLC7A7	NM_003982.4(SLC7A7):c.895-2A>T	noncoding	Pathogenic
14	22778478	T	C	T22778478C	SLC7A7	NM_001126106.2(SLC7A7):c.770+315A>G	noncoding	Benign
14	22778837	C	T	C22778837T	SLC7A7	NM_003982.4(SLC7A7):c.726G>A:p.Trp242Ter	coding	Pathogenic
14	22778838	C	T	C22778838T	SLC7A7	NM_003982.4(SLC7A7):c.725G>A:p.Trp242Ter	coding	Pathogenic
14	22778843	T	G	T22778843G	SLC7A7	NM_001126106.2(SLC7A7):c.720A>C:p.Ser240=	coding	Benign/Likely_benign
14	22778850	G	A	G22778850A	SLC7A7	NM_001126105.2(SLC7A7):c.713C>T:p.Ser238Phe	coding	Pathogenic
14	22778903	A	G	A22778903G	SLC7A7	NM_001126106.2(SLC7A7):c.660T>C:p.Gly220=	coding	Benign
14	22779925	C	G	C22779925G	SLC7A7	NM_001126105.2(SLC7A7):c.625+1G>C	noncoding	Pathogenic
14	22779925	C	T	C22779925T	SLC7A7	NM_001126105.2(SLC7A7):c.625+1G>A	noncoding	Pathogenic
14	22780330	A	G	A22780330G	SLC7A7	NM_001126106.2(SLC7A7):c.500-279T>C	noncoding	Benign
14	22812901	A	G	A22812901G	SLC7A7	NM_001126106.2(SLC7A7):c.498T>C:p.Ile166=	coding	Benign
14	22812943	G	A	G22812943A	SLC7A7	NM_001126106.2(SLC7A7):c.456C>T:p.Phe152=	coding	Benign
14	22813127	G	A	G22813127A	SLC7A7	NM_001126106.2(SLC7A7):c.272C>T:p.Ala91Val	coding	Benign
14	22813240	C	T	C22813240T	SLC7A7	NM_001126106.2(SLC7A7):c.159G>A:p.Ser53=	coding	Benign
14	22813303	C	T	C22813303T	SLC7A7	NM_001126106.2(SLC7A7):c.96G>A:p.Lys32=	coding	Benign
14	22813398	T	G	T22813398G	SLC7A7	NM_001126105.2(SLC7A7):c.1A>C:p.Met1Leu	coding	Pathogenic
14	22815363	A	G	A22815363G	SLC7A7	NM_001126106.2(SLC7A7):c.-86T>C	noncoding	Benign
14	22819726	C	G	C22819726G	SLC7A7	NM_001126106.2(SLC7A7):c.-263G>C	noncoding	Benign
14	22819727	G	A	G22819727A	SLC7A7	NM_001126106.2(SLC7A7):c.-264C>T	noncoding	Benign
14	22819744	A	G	A22819744G	SLC7A7	NM_001126106.2(SLC7A7):c.-281T>C	noncoding	Benign
14	22836827	G	A	G22836827A	MMP14	NM_004995.4(MMP14):c.10G>A:p.Ala4Thr	coding	Benign
14	22836867	C	G	C22836867G	MMP14	NM_004995.4(MMP14):c.50C>G:p.Thr17Arg	coding	Pathogenic
14	22843265	A	G	A22843265G	MMP14	NM_004995.4(MMP14):c.697A>G:p.Ile233Val	coding	Benign
14	22844475	C	T	C22844475T	MMP14	NM_004995.4(MMP14):c.1116C>T:p.Tyr372=	coding	Benign
14	22844766	C	T	C22844766T	MMP14	NM_004995.4(MMP14):c.1287C>T:p.Phe429=	coding	Benign
14	22844771	G	A	G22844771A	MMP14	NM_004995.4(MMP14):c.1292G>A:p.Arg431His	coding	Benign
14	22845925	C	T	C22845925T	MMP14	NM_004995.4(MMP14):c.1635C>T:p.Pro545=	coding	Benign
14	22927547	G	A	G22927547A	PRMT5	NM_006109.5(PRMT5):c.429C>T:p.His143=	coding	Benign
14	22927601	G	A	G22927601A	PRMT5	NM_006109.5(PRMT5):c.375C>T:p.Pro125=	coding	Benign
14	22928200	G	A	G22928200A	PRMT5	NM_006109.5(PRMT5):c.241C>T:p.Leu81=	coding	Benign
14	22950328	T	C	T22950328C	HAUS4	NM_001166269.1(HAUS4):c.548A>G:p.Tyr183Cys	coding	Benign
14	22987503	G	A	G22987503A	C14orf93	NM_021944.4(C14orf93):c.1329C>T:p.Arg443=	coding	Benign
14	22998919	G	A	G22998919A	C14orf93	NM_021944.4(C14orf93):c.105C>T:p.Ser35=	coding	Benign
14	23042370	G	A	G23042370A	PSMB11	NM_001099780.2(PSMB11):c.145G>A:p.Gly49Ser	coding	Benign
14	23042711	C	T	C23042711T	PSMB11	NM_001099780.2(PSMB11):c.486C>T:p.Tyr162=	coding	Benign
14	23042832	G	A	G23042832A	PSMB11	NM_001099780.2(PSMB11):c.607G>A:p.Ala203Thr	coding	Benign
14	23042847	G	A	G23042847A	PSMB11	NM_001099780.2(PSMB11):c.622G>A:p.Ala208Thr	coding	Benign
14	23117586	G	A	G23117586A	CEBPE	NM_001805.3(CEBPE):c.747C>T:p.Arg249=	coding	Benign
14	23117775	C	T	C23117775T	CEBPE	NM_001805.3(CEBPE):c.558G>A:p.Ala186=	coding	Benign
14	23118629	G	T	G23118629T	CEBPE	NM_001805.3(CEBPE):c.463C>A:p.Leu155Met	coding	Benign
14	23118701	G	A	G23118701A	CEBPE	NM_001805.3(CEBPE):c.391C>T:p.Arg131Ter	coding	Pathogenic
14	23118858	G	A	G23118858A	CEBPE	NM_001805.3(CEBPE):c.234C>T:p.Pro78=	coding	Benign
14	23182829	G	A	G23182829A	SLC7A8	NM_012244.4(SLC7A8):c.86C>T:p.Ser29Phe	coding	Benign
14	23182892	C	G	C23182892G	SLC7A8	NM_012244.4(SLC7A8):c.23G>C:p.Arg8Pro	coding	Benign
14	23321504	G	C	G23321504C	PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-677G>C	coding	Pathogenic
14	23321655	G	A	G23321655A	PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-526G>A	coding	Benign
14	23349411	C	T	C23349411T	SLC22A17	NM_020372.3(SLC22A17):c.387G>A:p.Gly129=	coding	Benign
14	23351954	G	A	G23351954A	SLC22A17	NM_020372.3(SLC22A17):c.261C>T:p.Ile87=	coding	Benign
14	23360156	G	A	G23360156A	EFS	NM_005864.4(EFS):c.423C>T:p.Pro141=	coding	Benign
14	23375770	C	T	C23375770T	IL25	NM_022789.3(IL25):c.424C>T:p.Arg142Trp	coding	Benign
14	23378351	C	T	C23378351T	CMTM5	NM_001288746.2(CMTM5):c.129C>T:p.Ala43=	coding	Benign
14	23378444	C	G	C23378444G	CMTM5	NM_001288746.2(CMTM5):c.222C>G:p.Leu74=	coding	Benign
14	23382032	A	G	A23382032G	MYH6	NM_002471.4(MYH6):c.*8T>C	noncoding	Benign/Likely_benign
14	23383285	C	T	C23383285T	MYH6	NM_002471.3(MYH6):c.5601G>A:p.Gln1867=	coding	Benign/Likely_benign
14	23383288	T	C	T23383288C	MYH6	NM_002471.3(MYH6):c.5598A>G:p.Leu1866=	coding	Benign
14	23384420	T	C	T23384420C	MYH6	NM_002471.3(MYH6):c.5565+22A>G	noncoding	Benign
14	23384532	C	T	C23384532T	MYH6	NM_002471.4(MYH6):c.5475G>A:p.Glu1825=	coding	Benign
14	23384568	C	T	C23384568T	MYH6	NM_002471.4(MYH6):c.5439G>A:p.Gln1813=	coding	Benign/Likely_benign
14	23384946	G	A	G23384946A	MYH6	NM_002471.4(MYH6):c.5259C>T:p.Ala1753=	coding	Benign
14	23385063	T	C	T23385063C	MYH6	NM_002471.3(MYH6):c.5164-22A>G	noncoding	Benign
14	23386105	C	T	C23386105T	MYH6	NM_002471.4(MYH6):c.4986G>A:p.Ala1662=	coding	Benign/Likely_benign
14	23386111	G	A	G23386111A	MYH6	NM_002471.4(MYH6):c.4980C>T:p.Asp1660=	coding	Benign
14	23386140	C	T	C23386140T	MYH6	NM_002471.4(MYH6):c.4960-9G>A	noncoding	Benign/Likely_benign
14	23386148	T	A	T23386148A	MYH6	NM_002471.3(MYH6):c.4960-17A>T	noncoding	Benign
14	23386269	C	G	C23386269G	MYH6	NM_002471.3(MYH6):c.4959+46G>C	noncoding	Benign
14	23386302	C	T	C23386302T	MYH6	NM_002471.4(MYH6):c.4959+13G>A	noncoding	Benign
14	23386360	A	G	A23386360G	MYH6	NM_002471.4(MYH6):c.4914T>C:p.Ala1638=	coding	Benign
14	23386368	G	A	G23386368A	MYH6	NM_002471.4(MYH6):c.4906C>T:p.Arg1636Cys	coding	Benign/Likely_benign
14	23386375	G	A	G23386375A	MYH6	NM_002471.4(MYH6):c.4899C>T:p.His1633=	coding	Benign
14	23386436	A	G	A23386436G	MYH6	NM_002471.4(MYH6):c.4838T>C:p.Val1613Ala	coding	Benign
14	23386462	A	G	A23386462G	MYH6	NM_002471.3(MYH6):c.4812T>C:p.Asp1604=	coding	Benign/Likely_benign
14	23386492	C	T	C23386492T	MYH6	NM_002471.4(MYH6):c.4782G>A:p.Arg1594=	coding	Benign/Likely_benign
14	23386496	T	A	T23386496A	MYH6	NM_002471.4(MYH6):c.4778A>T:p.Gln1593Leu	coding	Benign
14	23386591	G	A	G23386591A	MYH6	NM_002471.4(MYH6):c.4683C>T:p.Leu1561=	coding	Benign
14	23386635	T	G	T23386635G	MYH6	NM_002471.4(MYH6):c.4651-12A>C	noncoding	Benign
14	23386640	C	T	C23386640T	MYH6	NM_002471.3(MYH6):c.4651-17G>A	noncoding	Benign
14	23387643	C	T	C23387643T	MYH6	NM_002471.4(MYH6):c.4536G>A:p.Ser1512=	coding	Benign/Likely_benign
14	23387652	C	T	C23387652T	MYH6	NM_002471.4(MYH6):c.4527G>A:p.Glu1509=	coding	Benign
14	23387687	A	G	A23387687G	MYH6	NM_002471.3(MYH6):c.4526-34T>C	noncoding	Benign
14	23387867	T	C	T23387867C	MYH6	NM_002471.4(MYH6):c.4416A>G:p.Ser1472=	coding	Benign/Likely_benign
14	23387882	A	C	A23387882C	MYH6	NM_002471.4(MYH6):c.4401T>G:p.Ser1467=	coding	Benign/Likely_benign
14	23387888	C	T	C23387888T	MYH6	NM_002471.4(MYH6):c.4395G>A:p.Ser1465=	coding	Benign
14	23387930	G	A	G23387930A	MYH6	NM_002471.4(MYH6):c.4360-7C>T	noncoding	Benign
14	23388142	G	A	G23388142A	MYH6	NM_002471.4(MYH6):c.4359+13C>T	noncoding	Benign
14	23388147	T	G	T23388147G	MYH6	NM_002471.4(MYH6):c.4359+8A>C	noncoding	Benign/Likely_benign
14	23388150	T	C	T23388150C	MYH6	NM_002471.4(MYH6):c.4359+5A>G	noncoding	Benign/Likely_benign
14	23388194	A	T	A23388194T	MYH6	NM_002471.4(MYH6):c.4320T>A:p.Ala1440=	coding	Benign/Likely_benign
14	23388221	C	T	C23388221T	MYH6	NM_002471.4(MYH6):c.4293G>A:p.Met1431Ile	coding	Benign
14	23388269	T	C	T23388269C	MYH6	NM_002471.4(MYH6):c.4245A>G:p.Ser1415=	coding	Benign
14	23388308	G	A	G23388308A	MYH6	NM_002471.4(MYH6):c.4206C>T:p.Ala1402=	coding	Benign
14	23389023	C	T	C23389023T	MYH6	NM_002471.4(MYH6):c.4011G>A:p.Ser1337=	coding	Benign
14	23389062	A	G	A23389062G	MYH6	NM_002471.3(MYH6):c.3979-7T>C	noncoding	Benign
14	23389063	G	A	G23389063A	MYH6	NM_002471.3(MYH6):c.3979-8C>T	noncoding	Benign
14	23389063	G	C	G23389063C	MYH6	NM_002471.3(MYH6):c.3979-8C>G	noncoding	Benign
14	23389064	G	C	G23389064C	MYH6	NM_002471.3(MYH6):c.3979-9C>G	noncoding	Benign
14	23389064	G	T	G23389064T	MYH6	NM_002471.3(MYH6):c.3979-9C>A	noncoding	Benign/Likely_benign
14	23389066	G	C	G23389066C	MYH6	NM_002471.3(MYH6):c.3979-11C>G	noncoding	Benign
14	23389070	G	T	G23389070T	MYH6	NM_002471.4(MYH6):c.3979-15C>A	noncoding	Benign
14	23389385	G	A	G23389385A	MYH6	NM_002471.4(MYH6):c.3978+8C>T	noncoding	Benign/Likely_benign
14	23389439	G	A	G23389439A	MYH6	NM_002471.3(MYH6):c.3932C>T:p.Thr1311Ile	coding	Benign
14	23389444	A	G	A23389444G	MYH6	NM_002471.4(MYH6):c.3927T>C:p.Ser1309=	coding	Benign/Likely_benign
14	23389462	C	G	C23389462G	MYH6	NM_002471.3(MYH6):c.3909G>C:p.Leu1303=	coding	Benign/Likely_benign
14	23389488	C	G	C23389488G	MYH6	NM_002471.4(MYH6):c.3883G>C:p.Glu1295Gln	coding	Benign/Likely_benign
14	23389495	C	T	C23389495T	MYH6	NM_002471.3(MYH6):c.3876G>A:p.Gln1292=	coding	Benign/Likely_benign
14	23390162	G	A	G23390162A	MYH6	NM_002471.4(MYH6):c.3627C>T:p.Ile1209=	coding	Benign/Likely_benign
14	23390180	G	C	G23390180C	MYH6	NM_002471.4(MYH6):c.3609C>G:p.Ala1203=	coding	Benign
14	23390216	G	A	G23390216A	MYH6	NM_002471.4(MYH6):c.3573C>T:p.Ala1191=	coding	Benign/Likely_benign
14	23390309	G	A	G23390309A	MYH6	NM_002471.4(MYH6):c.3480C>T:p.Ser1160=	coding	Benign
14	23390381	C	T	C23390381T	MYH6	NM_002471.4(MYH6):c.3408G>A:p.Lys1136=	coding	Benign
14	23390401	C	T	C23390401T	MYH6	NM_002471.4(MYH6):c.3388G>A:p.Ala1130Thr	coding	Benign
14	23392602	A	G	A23392602G	MYH6	NM_002471.4(MYH6):c.3302T>C:p.Val1101Ala	coding	Benign
14	23392607	C	T	C23392607T	MYH6	NM_002471.4(MYH6):c.3297G>A:p.Glu1099=	coding	Benign/Likely_benign
14	23393501	C	T	C23393501T	MYH6	NM_002471.4(MYH6):c.2946G>A:p.Glu982=	coding	Benign
14	23393661	C	T	C23393661T	MYH6	NM_002471.4(MYH6):c.2928+5G>A	noncoding	Benign/Likely_benign
14	23393704	C	A	C23393704A	MYH6	NM_002471.4(MYH6):c.2890G>T:p.Ala964Ser	coding	Benign/Likely_benign
14	23393788	C	A	C23393788A	MYH6	NM_002471.4(MYH6):c.2806G>T:p.Ala936Ser	coding	Benign/Likely_benign
14	23394068	C	T	C23394068T	MYH6	NM_002471.4(MYH6):c.2685G>A:p.Ala895=	coding	Benign
14	23394206	C	T	C23394206T	MYH6	NM_002471.3(MYH6):c.2547G>A:p.Lys849=	coding	Benign/Likely_benign
14	23394233	C	T	C23394233T	MYH6	NM_002471.3(MYH6):c.2520G>A:p.Pro840=	coding	Benign/Likely_benign
14	23394264	G	A	G23394264A	MYH6	NM_002471.3(MYH6):c.2489C>T:p.Pro830Leu	coding	Pathogenic
14	23394294	A	T	A23394294T	MYH6	NM_002471.3(MYH6):c.2459T>A:p.Ile820Asn	coding	Pathogenic
14	23396946	G	T	G23396946T	MYH6	NM_002471.3(MYH6):c.2168+17C>A	noncoding	Benign
14	23396980	G	A	G23396980A	MYH6	NM_002471.4(MYH6):c.2151C>T:p.Tyr717=	coding	Benign
14	23397231	G	A	G23397231A	MYH6	NM_002471.4(MYH6):c.1989C>T:p.Asn663=	coding	Benign/Likely_benign
14	23397504	A	G	A23397504G	MYH6	NM_002471.3(MYH6):c.1962+39T>C	noncoding	Benign
14	23398840	G	T	G23398840T	MYH6	NM_002471.4(MYH6):c.1779C>A:p.Gly593=	coding	Benign/Likely_benign
14	23399076	G	A	G23399076A	MYH6	NM_002471.3(MYH6):c.1582-39C>T	noncoding	Benign
14	23400708	C	T	C23400708T	MYH6	NM_002471.3(MYH6):c.1410+1G>A	noncoding	Pathogenic
14	23400784	G	A	G23400784A	MYH6	NM_002471.4(MYH6):c.1335C>T:p.Asn445=	coding	Benign
14	23400844	G	A	G23400844A	MYH6	NM_002471.4(MYH6):c.1275C>T:p.Ile425=	coding	Benign/Likely_benign
14	23402456	C	A	C23402456A	MYH6	NM_002471.4(MYH6):c.1141+8G>T	noncoding	Benign/Likely_benign
14	23402473	C	T	C23402473T	MYH6	NM_002471.4(MYH6):c.1132G>A:p.Gly378Ser	coding	Benign/Likely_benign
14	23402474	G	A	G23402474A	MYH6	NM_002471.4(MYH6):c.1131C>T:p.Asp377=	coding	Benign/Likely_benign
14	23402474	G	C	G23402474C	MYH6	NM_002471.4(MYH6):c.1131C>G:p.Asp377Glu	coding	Benign/Likely_benign
14	23402483	C	T	C23402483T	MYH6	NM_002471.4(MYH6):c.1122G>A:p.Ala374=	coding	Benign/Likely_benign
14	23402522	C	A	C23402522A	MYH6	NM_002471.4(MYH6):c.1083G>T:p.Gly361=	coding	Benign/Likely_benign
14	23402534	G	A	G23402534A	MYH6	NM_002471.4(MYH6):c.1071C>T:p.Ile357=	coding	Benign
14	23402700	G	A	G23402700A	MYH6	NM_002471.4(MYH6):c.999C>T:p.Thr333=	coding	Benign
14	23402790	C	T	C23402790T	MYH6	NM_002471.4(MYH6):c.909G>A:p.Leu303=	coding	Benign
14	23403457	T	C	T23403457C	MYH6	NM_002471.4(MYH6):c.800-11A>G	noncoding	Benign
14	23404280	G	A	G23404280A	MYH6	NM_002471.3(MYH6):c.735+16C>T	noncoding	Benign
14	23404296	A	C	A23404296C	MYH6	NM_002471.3(MYH6):c.735T>G:p.Phe245Leu	coding	Pathogenic
14	23404731	C	T	C23404731T	MYH6	NM_002471.4(MYH6):c.622G>A:p.Asp208Asn	coding	Benign/Likely_benign
14	23404841	A	T	A23404841T	MYH6	NM_002471.3(MYH6):c.531-19T>A	noncoding	Benign/Likely_benign
14	23405233	G	A	G23405233A	MYH6	NM_002471.3(MYH6):c.492C>T:p.Tyr164=	coding	Benign/Likely_benign
14	23405298	G	T	G23405298T	MYH6	NM_002471.4(MYH6):c.427C>A:p.Arg143=	coding	Benign/Likely_benign
14	23405314	C	T	C23405314T	MYH6	NM_002471.4(MYH6):c.411G>A:p.Glu137=	coding	Benign
14	23405317	G	A	G23405317A	MYH6	NM_002471.3(MYH6):c.408C>T:p.Ala136=	coding	Benign/Likely_benign
14	23405326	C	T	C23405326T	MYH6	NM_002471.4(MYH6):c.399G>A:p.Val133=	coding	Benign
14	23405332	C	T	C23405332T	MYH6	NM_002471.4(MYH6):c.393G>A:p.Leu131=	coding	Benign
14	23405642	C	T	C23405642T	MYH6	NM_002471.4(MYH6):c.330G>A:p.Ala110=	coding	Benign/Likely_benign
14	23407007	G	A	G23407007A	MYH6	NM_002471.3(MYH6):c.201+16C>T	noncoding	Benign
14	23407058	C	T	C23407058T	MYH6	NM_002471.4(MYH6):c.166G>A:p.Gly56Arg	coding	Benign
14	23407138	C	T	C23407138T	MYH6	NM_002471.4(MYH6):c.86G>A:p.Arg29Gln	coding	Benign
14	23407154	G	T	G23407154T	MYH6	NM_002471.4(MYH6):c.70C>A:p.Leu24Ile	coding	Benign/Likely_benign
14	23407188	C	T	C23407188T	MYH6	NM_002471.4(MYH6):c.36G>A:p.Ala12=	coding	Benign
14	23407228	G	T	G23407228T	MYH6	NM_002471.4(MYH6):c.-5C>A	noncoding	Benign
14	23408270	C	G	C23408270G	MYH7;LOC114827851;MYH6	NM_002471.3(MYH6):c.-64G>C	noncoding	Benign/Likely_benign
14	23412741	C	T	C23412741T	MYH6;MYH7	NM_000257.4(MYH7):c.*113G>A	noncoding	Benign/Likely_benign
14	23412834	C	T	C23412834T	MYH7	NM_000257.4(MYH7):c.*20G>A	noncoding	Benign/Likely_benign
14	23412977	T	G	T23412977G	MYH7	NM_000257.4(MYH7):c.5791-106A>C	noncoding	Benign
14	23413093	C	T	C23413093T	MYH7	NM_000257.4(MYH7):c.5791-222G>A	noncoding	Benign
14	23413646	A	G	A23413646G	MYH7	NM_000257.4(MYH7):c.5790+113T>C	noncoding	Benign
14	23413744	A	C	A23413744C	MYH7	NM_000257.4(MYH7):c.5790+15T>G	noncoding	Benign
14	23413813	G	A	G23413813A	MYH7	NM_000257.4(MYH7):c.5736C>T:p.Ile1912=	coding	Benign
14	23413824	G	T	G23413824T	MYH7	NM_000257.4(MYH7):c.5725C>A:p.Arg1909=	coding	Benign/Likely_benign
14	23413847	T	A	T23413847A	MYH7	NM_000257.4(MYH7):c.5702A>T:p.His1901Leu	coding	Pathogenic
14	23413888	C	T	C23413888T	MYH7	NM_000257.4(MYH7):c.5661G>A:p.Glu1887=	coding	Benign/Likely_benign
14	23413975	C	T	C23413975T	MYH7	NM_000257.4(MYH7):c.5655+32G>A	noncoding	Benign
14	23414002	C	G	C23414002G	MYH7	NM_000257.4(MYH7):c.5655+5G>C	noncoding	Pathogenic
14	23414007	C	T	C23414007T	MYH7	NM_000257.4(MYH7):c.5655G>A:p.Ala1885=	coding	Pathogenic
14	23414016	G	A	G23414016A	MYH7	NM_000257.4(MYH7):c.5646C>T:p.Ala1882=	coding	Benign/Likely_benign
14	23414088	C	T	C23414088T	MYH7	NM_000257.4(MYH7):c.5574G>A:p.Arg1858=	coding	Benign/Likely_benign
14	23414096	C	T	C23414096T	MYH7	NM_000257.4(MYH7):c.5566G>A:p.Glu1856Lys	coding	Pathogenic
14	23414100	C	T	C23414100T	MYH7	NM_000257.4(MYH7):c.5562G>A:p.Thr1854=	coding	Benign/Likely_benign
14	23414114	A	C	A23414114C	MYH7	NM_000257.4(MYH7):c.5560-12T>G	noncoding	Benign
14	23414390	G	A	G23414390A	MYH7	NM_000257.4(MYH7):c.5560-288C>T	noncoding	Benign
14	23414928	T	A	T23414928A	MYH7	NM_000257.4(MYH7):c.5559+67A>T	noncoding	Benign
14	23415047	G	C	G23415047C	MYH7	NM_000257.4(MYH7):c.5507C>G:p.Ser1836Trp	coding	Pathogenic
14	23415144	C	T	C23415144T	MYH7	NM_000257.4(MYH7):c.5410G>A:p.Ala1804Thr	coding	Pathogenic
14	23415176	A	G	A23415176G	MYH7	NM_000257.4(MYH7):c.5378T>C:p.Leu1793Pro	coding	Pathogenic
14	23415193	T	C	T23415193C	MYH7	NM_000257.4(MYH7):c.5361A>G:p.Glu1787=	coding	Benign/Likely_benign
14	23415258	C	T	C23415258T	MYH7	NM_000257.4(MYH7):c.5296G>A:p.Ala1766Thr	coding	Pathogenic
14	23415315	C	A	C23415315A	MYH7	NM_000257.4(MYH7):c.5284-45G>T	noncoding	Benign
14	23415362	G	A	G23415362A	MYH7	NM_000257.4(MYH7):c.5283+19C>T	noncoding	Benign/Likely_benign
14	23415652	G	A	G23415652A	MYH7	NM_000257.4(MYH7):c.5134C>T:p.Arg1712Trp	coding	Pathogenic/Likely_pathogenic
14	23415669	A	G	A23415669G	MYH7	NM_000257.4(MYH7):c.5117T>C:p.Leu1706Pro	coding	Pathogenic
14	23415680	C	T	C23415680T	MYH7	NM_000257.4(MYH7):c.5106G>A:p.Ala1702=	coding	Benign
14	23415799	C	G	C23415799G	MYH7	NM_000257.4(MYH7):c.4987G>C:p.Ala1663Pro	coding	Pathogenic
14	23415801	C	G	C23415801G	MYH7	NM_000257.4(MYH7):c.4985G>C:p.Arg1662Pro	coding	Pathogenic
14	23415812	G	A	G23415812A	MYH7	NM_000257.4(MYH7):c.4974C>T:p.Asp1658=	coding	Benign
14	23416020	A	G	A23416020G	MYH7	NM_000257.4(MYH7):c.4937T>C:p.Leu1646Pro	coding	Pathogenic
14	23416046	G	A	G23416046A	MYH7	NM_000257.4(MYH7):c.4911C>T:p.Ala1637=	coding	Benign/Likely_benign
14	23416051	C	G	C23416051G	MYH7	NM_000257.4(MYH7):c.4906G>C:p.Ala1636Pro	coding	Pathogenic
14	23416130	G	A	G23416130A	MYH7	NM_000257.4(MYH7):c.4827C>T:p.Asn1609=	coding	Benign/Likely_benign
14	23416134	C	G	C23416134G	MYH7	NM_000257.4(MYH7):c.4823G>C:p.Arg1608Pro	coding	Pathogenic
14	23416151	G	A	G23416151A	MYH7	NM_000257.4(MYH7):c.4806C>T:p.Asp1602=	coding	Benign/Likely_benign
14	23416162	T	G	T23416162G	MYH7	NM_000257.4(MYH7):c.4795A>C:p.Thr1599Pro	coding	Pathogenic
14	23416169	C	T	C23416169T	MYH7	NM_000257.4(MYH7):c.4788G>A:p.Ser1596=	coding	Benign
14	23416194	C	G	C23416194G	MYH7	NM_000257.4(MYH7):c.4763G>C:p.Arg1588Pro	coding	Pathogenic
14	23416241	G	A	G23416241A	MYH7	NM_000257.4(MYH7):c.4716C>T:p.Ile1572=	coding	Benign
14	23416286	C	T	C23416286T	MYH7	NM_000257.4(MYH7):c.4671G>A:p.Lys1557=	coding	Benign
14	23416293	T	C	T23416293C	MYH7	NM_000257.4(MYH7):c.4664A>G:p.Glu1555Gly	coding	Pathogenic
14	23416485	G	A	G23416485A	MYH7	NM_000257.4(MYH7):c.4645-173C>T	noncoding	Benign
14	23416890	T	G	T23416890G	MYH7	NM_000257.4(MYH7):c.4622A>C:p.Gln1541Pro	coding	Pathogenic
14	23416894	G	A	G23416894A	MYH7	NM_000257.4(MYH7):c.4618C>T:p.Leu1540=	coding	Benign/Likely_benign
14	23416946	A	G	A23416946G	MYH7	NM_000257.4(MYH7):c.4566T>C:p.Thr1522=	coding	Benign
14	23417017	G	A	G23417017A	MYH7	NM_000257.4(MYH7):c.4520-25C>T	noncoding	Benign
14	23417172	C	T	C23417172T	MYH7	NM_000257.4(MYH7):c.4500G>A:p.Arg1500=	coding	Benign/Likely_benign
14	23417173	C	G	C23417173G	MYH7	NM_000257.4(MYH7):c.4499G>C:p.Arg1500Pro	coding	Pathogenic
14	23417174	G	A	G23417174A	MYH7	NM_000257.4(MYH7):c.4498C>T:p.Arg1500Trp	coding	Pathogenic/Likely_pathogenic
14	23417200	G	C	G23417200C	MYH7	NM_000257.4(MYH7):c.4472C>G:p.Ser1491Cys	coding	Benign
14	23417220	G	A	G23417220A	MYH7	NM_000257.4(MYH7):c.4452C>T:p.Leu1484=	coding	Benign
14	23417230	A	G	A23417230G	MYH7	NM_000257.4(MYH7):c.4442T>C:p.Leu1481Pro	coding	Pathogenic
14	23417324	C	T	C23417324T	MYH7	NM_000257.4(MYH7):c.4354-6G>A	coding	Benign/Likely_benign
14	23417461	C	T	C23417461T	MYH7	NM_000257.4(MYH7):c.4353+42G>A	noncoding	Benign
14	23417486	C	T	C23417486T	MYH7	NM_000257.4(MYH7):c.4353+17G>A	noncoding	Benign
14	23417490	A	C	A23417490C	MYH7	NM_000257.4(MYH7):c.4353+13T>G	noncoding	Benign
14	23417493	C	T	C23417493T	MYH7	NM_000257.4(MYH7):c.4353+10G>A	noncoding	Benign/Likely_benign
14	23417541	C	G	C23417541G	MYH7	NM_000257.4(MYH7):c.4315G>C:p.Ala1439Pro	coding	Pathogenic
14	23417566	C	A	C23417566A	MYH7	NM_000257.4(MYH7):c.4290G>T:p.Val1430=	coding	Benign/Likely_benign
14	23417617	C	T	C23417617T	MYH7	NM_000257.4(MYH7):c.4239G>A:p.Ser1413=	coding	Benign/Likely_benign
14	23418244	C	T	C23418244T	MYH7	NM_000257.4(MYH7):c.4135G>A:p.Ala1379Thr	coding	Pathogenic/Likely_pathogenic
14	23418374	C	T	C23418374T	MYH7	NM_000257.4(MYH7):c.4005G>A:p.Ser1335=	coding	Benign
14	23418386	G	A	G23418386A	MYH7	NM_000257.4(MYH7):c.3993C>T:p.His1331=	coding	Benign/Likely_benign
14	23418436	T	C	T23418436C	MYH7	NM_000257.4(MYH7):c.3973-30A>G	noncoding	Benign
14	23418655	C	T	C23418655T	MYH7	NM_000257.4(MYH7):c.3973-249G>A	noncoding	Benign
14	23418656	G	A	G23418656A	MYH7	NM_000257.4(MYH7):c.3973-250C>T	noncoding	Benign
14	23418974	C	T	C23418974T	MYH7	NM_000257.4(MYH7):c.3972+203G>A	noncoding	Benign
14	23419161	C	T	C23419161T	MYH7	NM_000257.4(MYH7):c.3972+16G>A	noncoding	Benign
14	23419162	G	A	G23419162A	MYH7	NM_000257.4(MYH7):c.3972+15C>T	noncoding	Benign/Likely_benign
14	23419231	G	A	G23419231A	MYH7	NM_000257.4(MYH7):c.3918C>T:p.Leu1306=	coding	Benign
14	23419285	G	C	G23419285C	MYH7	NM_000257.4(MYH7):c.3864C>G:p.Ser1288=	coding	Benign
14	23419456	A	T	A23419456T	MYH7	NM_000257.4(MYH7):c.3853+27T>A	noncoding	Benign
14	23419462	G	A	G23419462A	MYH7	NM_000257.4(MYH7):c.3853+21C>T	noncoding	Benign
14	23419476	G	A	G23419476A	MYH7	NM_000257.4(MYH7):c.3853+7C>T	noncoding	Benign
14	23419559	G	A	G23419559A	MYH7	NM_000257.4(MYH7):c.3777C>T:p.His1259=	coding	Benign
14	23419566	T	C	T23419566C	MYH7	NM_000257.4(MYH7):c.3770A>G:p.Asn1257Ser	coding	Benign
14	23419889	G	A	G23419889A	MYH7	NM_000257.4(MYH7):c.3682C>T:p.Leu1228=	coding	Benign/Likely_benign
14	23419951	A	T	A23419951T	MYH7	NM_000257.4(MYH7):c.3620T>A:p.Ile1207Asn	coding	Pathogenic
14	23419968	G	C	G23419968C	MYH7	NM_000257.4(MYH7):c.3603C>G:p.Ala1201=	coding	Benign/Likely_benign
14	23420007	A	G	A23420007G	MYH7	NM_000257.4(MYH7):c.3564T>C:p.Thr1188=	coding	Benign/Likely_benign
14	23420169	C	T	C23420169T	MYH7	NM_000257.4(MYH7):c.3402G>A:p.Lys1134=	coding	Benign/Likely_benign
14	23420220	C	T	C23420220T	MYH7	NM_000257.4(MYH7):c.3351G>A:p.Glu1117=	coding	Benign
14	23422056	A	G	A23422056G	MYH7	NM_000257.4(MYH7):c.3245+124T>C	noncoding	Benign
14	23422269	C	T	C23422269T	MYH7	NM_000257.4(MYH7):c.3156G>A:p.Lys1052=	coding	Benign
14	23422272	C	T	C23422272T	MYH7	NM_000257.4(MYH7):c.3153G>A:p.Ala1051=	coding	Benign
14	23423372	T	C	T23423372C	MYH7	NM_000257.4(MYH7):c.3099+175A>G	noncoding	Benign
14	23423610	G	A	G23423610A	MYH7	NM_000257.4(MYH7):c.3036C>T:p.Ala1012=	coding	Benign
14	23423679	A	G	A23423679G	MYH7	NM_000257.4(MYH7):c.2967T>C:p.Ile989=	coding	Benign
14	23423701	A	G	A23423701G	MYH7	NM_000257.4(MYH7):c.2945T>C:p.Met982Thr	coding	Benign
14	23423729	G	A	G23423729A	MYH7	NM_000257.4(MYH7):c.2923-6C>T	noncoding	Benign/Likely_benign
14	23423741	C	T	C23423741T	MYH7	NM_000257.4(MYH7):c.2923-18G>A	noncoding	Benign
14	23423825	G	A	G23423825A	MYH7	NM_000257.4(MYH7):c.2922+82C>T	noncoding	Benign
14	23423907	C	T	C23423907T	MYH7	NM_000257.4(MYH7):c.2922G>A:p.Lys974=	coding	Benign/Likely_benign
14	23423922	G	A	G23423922A	MYH7	NM_000257.4(MYH7):c.2907C>T:p.His969=	coding	Benign
14	23424026	C	T	C23424026T	MYH7	NM_000257.4(MYH7):c.2803G>A:p.Glu935Lys	coding	Pathogenic
14	23424041	C	G	C23424041G	MYH7	NM_000257.4(MYH7):c.2788G>C:p.Glu930Gln	coding	Pathogenic/Likely_pathogenic
14	23424041	C	T	C23424041T	MYH7	NM_000257.4(MYH7):c.2788G>A:p.Glu930Lys	coding	Pathogenic/Likely_pathogenic
14	23424046	T	A	T23424046A	MYH7	NM_000257.4(MYH7):c.2783A>T:p.Asp928Val	coding	Pathogenic
14	23424047	C	T	C23424047T	MYH7	NM_000257.4(MYH7):c.2782G>A:p.Asp928Asn	coding	Pathogenic/Likely_pathogenic
14	23424059	C	T	C23424059T	MYH7	NM_000257.4(MYH7):c.2770G>A:p.Glu924Lys	coding	Pathogenic/Likely_pathogenic
14	23424060	G	A	G23424060A	MYH7	NM_000257.4(MYH7):c.2769C>T:p.Asn923=	coding	Benign
14	23424107	G	C	G23424107C	MYH7	NM_000257.4(MYH7):c.2722C>G:p.Leu908Val	coding	Pathogenic
14	23424112	T	C	T23424112C	MYH7	NM_000257.4(MYH7):c.2717A>G:p.Asp906Gly	coding	Pathogenic
14	23424118	C	T	C23424118T	MYH7	NM_000257.4(MYH7):c.2711G>A:p.Arg904His	coding	Pathogenic/Likely_pathogenic
14	23424143	C	T	C23424143T	MYH7	NM_000257.4(MYH7):c.2686G>A:p.Asp896Asn	coding	Pathogenic
14	23424148	T	C	T23424148C	MYH7	NM_000257.4(MYH7):c.2681A>G:p.Glu894Gly	coding	Pathogenic
14	23424244	G	A	G23424244A	MYH7	NM_000257.4(MYH7):c.2680-95C>T	noncoding	Benign
14	23424506	A	C	A23424506C	MYH7	NM_000257.4(MYH7):c.2679+263T>G	noncoding	Benign
14	23424762	G	A	G23424762A	MYH7	NM_000257.4(MYH7):c.2679+7C>T	noncoding	Benign/Likely_benign
14	23424804	G	C	G23424804C	MYH7	NM_000257.4(MYH7):c.2644C>G:p.Gln882Glu	coding	Pathogenic/Likely_pathogenic
14	23424839	C	T	C23424839T	MYH7	NM_000257.4(MYH7):c.2609G>A:p.Arg870His	coding	Pathogenic
14	23424854	T	C	T23424854C	MYH7	NM_000257.4(MYH7):c.2594A>G:p.Lys865Arg	coding	Pathogenic
14	23424855	T	C	T23424855C	MYH7	NM_000257.4(MYH7):c.2593A>G:p.Lys865Glu	coding	Pathogenic/Likely_pathogenic
14	23424893	A	G	A23424893G	MYH7	NM_000257.4(MYH7):c.2555T>C:p.Met852Thr	coding	Pathogenic/Likely_pathogenic
14	23424895	G	T	G23424895T	MYH7	NM_000257.4(MYH7):c.2553C>A:p.Ser851=	coding	Benign
14	23424905	T	C	T23424905C	MYH7	NM_000257.4(MYH7):c.2543A>G:p.Glu848Gly	coding	Pathogenic/Likely_pathogenic
14	23424934	C	T	C23424934T	MYH7	NM_000257.4(MYH7):c.2514G>A:p.Pro838=	coding	Benign
14	23424935	G	A	G23424935A	MYH7	NM_000257.4(MYH7):c.2513C>T:p.Pro838Leu	coding	Pathogenic
14	23424984	T	C	T23424984C	MYH7	NM_000257.4(MYH7):c.2464A>G:p.Met822Val	coding	Pathogenic
14	23424989	G	T	G23424989T	MYH7	NM_000257.4(MYH7):c.2459C>A:p.Ala820Asp	coding	Pathogenic
14	23425294	A	G	A23425294G	MYH7	NM_000257.4(MYH7):c.2411T>C:p.Leu804Pro	coding	Pathogenic
14	23425316	C	T	C23425316T	MYH7	NM_000257.4(MYH7):c.2389G>A:p.Ala797Thr	coding	Pathogenic/Likely_pathogenic
14	23425347	C	A	C23425347A	MYH7	NM_000257.4(MYH7):c.2358G>T:p.Thr786=	coding	Benign
14	23425347	C	T	C23425347T	MYH7	NM_000257.4(MYH7):c.2358G>A:p.Thr786=	coding	Benign/Likely_benign
14	23425371	G	C	G23425371C	MYH7	NM_000257.4(MYH7):c.2334C>G:p.Asp778Glu	coding	Pathogenic/Likely_pathogenic
14	23425371	G	T	G23425371T	MYH7	NM_000257.4(MYH7):c.2334C>A:p.Asp778Glu	coding	Pathogenic
14	23425372	T	A	T23425372A	MYH7	NM_000257.4(MYH7):c.2333A>T:p.Asp778Val	coding	Pathogenic
14	23425372	T	C	T23425372C	MYH7	NM_000257.4(MYH7):c.2333A>G:p.Asp778Gly	coding	Pathogenic
14	23425403	C	G	C23425403G	MYH7	NM_000257.4(MYH7):c.2302G>C:p.Gly768Arg	coding	Pathogenic
14	23425403	C	T	C23425403T	MYH7	NM_000257.4(MYH7):c.2302G>A:p.Gly768Arg	coding	Pathogenic/Likely_pathogenic
14	23425413	G	C	G23425413C	MYH7	NM_000257.4(MYH7):c.2292C>G:p.Phe764Leu	coding	Pathogenic
14	23425760	C	A	C23425760A	MYH7	NM_000257.4(MYH7):c.2221G>T:p.Gly741Trp	coding	Pathogenic
14	23425760	C	G	C23425760G	MYH7	NM_000257.4(MYH7):c.2221G>C:p.Gly741Arg	coding	Pathogenic
14	23425760	C	T	C23425760T	MYH7	NM_000257.4(MYH7):c.2221G>A:p.Gly741Arg	coding	Pathogenic/Likely_pathogenic
14	23425774	A	G	A23425774G	MYH7	NM_000257.4(MYH7):c.2207T>C:p.Ile736Thr	coding	Pathogenic
14	23425790	G	A	G23425790A	MYH7	NM_000257.4(MYH7):c.2191C>T:p.Pro731Ser	coding	Pathogenic/Likely_pathogenic
14	23425797	C	T	C23425797T	MYH7	NM_000257.4(MYH7):c.2184G>A:p.Ala728=	coding	Benign/Likely_benign
14	23425814	G	A	G23425814A	MYH7	NM_000257.4(MYH7):c.2167C>T:p.Arg723Cys	coding	Pathogenic
14	23425814	G	C	G23425814C	MYH7	NM_000257.4(MYH7):c.2167C>G:p.Arg723Gly	coding	Pathogenic
14	23425818	C	A	C23425818A	MYH7	NM_000257.4(MYH7):c.2163G>T:p.Arg721Ser	coding	Pathogenic/Likely_pathogenic
14	23425819	C	T	C23425819T	MYH7	NM_000257.4(MYH7):c.2163-1G>A	coding	Pathogenic
14	23425834	T	A	T23425834A	MYH7	NM_000257.4(MYH7):c.2163-16A>T	noncoding	Benign
14	23425960	C	T	C23425960T	MYH7	NM_000257.4(MYH7):c.2162+4G>A	noncoding	Benign
14	23425970	C	T	C23425970T	MYH7	NM_000257.4(MYH7):c.2156G>A:p.Arg719Gln	coding	Pathogenic
14	23425971	G	A	G23425971A	MYH7	NM_000257.4(MYH7):c.2155C>T:p.Arg719Trp	coding	Pathogenic
14	23425980	C	G	C23425980G	MYH7	NM_000257.4(MYH7):c.2146G>C:p.Gly716Arg	coding	Pathogenic
14	23425980	C	T	C23425980T	MYH7	NM_000257.4(MYH7):c.2146G>A:p.Gly716Arg	coding	Pathogenic
14	23425991	C	T	C23425991T	MYH7	NM_000257.4(MYH7):c.2135G>A:p.Arg712His	coding	Pathogenic
14	23425997	G	T	G23425997T	MYH7	NM_000257.4(MYH7):c.2129C>A:p.Pro710His	coding	Pathogenic
14	23426035	A	G	A23426035G	MYH7	NM_000257.4(MYH7):c.2091T>C:p.Gly697=	coding	Benign/Likely_benign
14	23426045	C	T	C23426045T	MYH7	NM_000257.4(MYH7):c.2081G>A:p.Arg694His	coding	Pathogenic/Likely_pathogenic
14	23426075	A	C	A23426075C	MYH7	NM_000257.4(MYH7):c.2051T>G:p.Met684Arg	coding	Pathogenic
14	23426270	C	A	C23426270A	MYH7	NM_000257.4(MYH7):c.2045-189G>T	noncoding	Benign
14	23426833	C	T	C23426833T	MYH7	NM_000257.4(MYH7):c.1988G>A:p.Arg663His	coding	Pathogenic
14	23426834	G	A	G23426834A	MYH7	NM_000257.4(MYH7):c.1987C>T:p.Arg663Cys	coding	Pathogenic
14	23426858	G	T	G23426858T	MYH7	NM_000257.4(MYH7):c.1963C>A:p.Leu655Met	coding	Pathogenic
14	23427238	A	C	A23427238C	MYH7	NM_000257.4(MYH7):c.1956+2T>G	noncoding	Pathogenic
14	23427242	T	C	T23427242C	MYH7	NM_000257.4(MYH7):c.1954A>G:p.Arg652Gly	coding	Pathogenic
14	23427657	C	T	C23427657T	MYH7	NM_000257.4(MYH7):c.1816G>A:p.Val606Met	coding	Pathogenic/Likely_pathogenic
14	23427663	T	C	T23427663C	MYH7	NM_000257.4(MYH7):c.1810A>G:p.Thr604Ala	coding	Pathogenic
14	23427672	G	A	G23427672A	MYH7	NM_000257.4(MYH7):c.1801C>T:p.Leu601Phe	coding	Pathogenic
14	23427706	G	A	G23427706A	MYH7	NM_000257.4(MYH7):c.1767C>T:p.Asn589=	coding	Benign
14	23427723	C	G	C23427723G	MYH7	NM_000257.4(MYH7):c.1750G>C:p.Gly584Arg	coding	Pathogenic
14	23427723	C	T	C23427723T	MYH7	NM_000257.4(MYH7):c.1750G>A:p.Gly584Ser	coding	Pathogenic/Likely_pathogenic
14	23427855	A	G	A23427855G	MYH7	NM_000257.4(MYH7):c.1618T>C:p.Phe540Leu	coding	Pathogenic/Likely_pathogenic
14	23427868	T	C	T23427868C	MYH7	NM_000257.4(MYH7):c.1605A>G:p.Glu535=	coding	Benign
14	23427879	A	G	A23427879G	MYH7	NM_000257.4(MYH7):c.1594T>C:p.Ser532Pro	coding	Pathogenic
14	23428257	G	A	G23428257A	MYH7	NM_000257.4(MYH7):c.1578+243C>T	noncoding	Benign
14	23428298	T	C	T23428298C	MYH7	NM_000257.4(MYH7):c.1578+202A>G	noncoding	Benign
14	23428505	C	T	C23428505T	MYH7	NM_000257.4(MYH7):c.1573G>A:p.Glu525Lys	coding	Pathogenic
14	23428540	A	C	A23428540C	MYH7	NM_000257.4(MYH7):c.1538T>G:p.Phe513Cys	coding	Pathogenic
14	23428548	G	T	G23428548T	MYH7	NM_000257.4(MYH7):c.1530C>A:p.Phe510Leu	coding	Pathogenic
14	23428587	C	A	C23428587A	MYH7	NM_000257.4(MYH7):c.1491G>T:p.Glu497Asp	coding	Pathogenic/Likely_pathogenic
14	23428596	A	G	A23428596G	MYH7	NM_000257.4(MYH7):c.1482T>C:p.Phe494=	coding	Benign/Likely_benign
14	23428631	C	T	C23428631T	MYH7	NM_000257.4(MYH7):c.1447G>A:p.Glu483Lys	coding	Pathogenic
14	23428642	T	C	T23428642C	MYH7	NM_000257.4(MYH7):c.1436A>G:p.Asn479Ser	coding	Pathogenic/Likely_pathogenic
14	23428787	G	A	G23428787A	MYH7	NM_000257.4(MYH7):c.1408-117C>T	noncoding	Benign
14	23428955	A	G	A23428955G	MYH7	NM_000257.4(MYH7):c.1407T>C:p.Asp469=	coding	Benign/Likely_benign
14	23428962	A	T	A23428962T	MYH7	NM_000257.4(MYH7):c.1400T>A:p.Ile467Asn	coding	Pathogenic
14	23428967	G	A	G23428967A	MYH7	NM_000257.4(MYH7):c.1395C>T:p.Phe465=	coding	Benign
14	23429004	C	T	C23429004T	MYH7	NM_000257.4(MYH7):c.1358G>A:p.Arg453His	coding	Pathogenic
14	23429005	G	A	G23429005A	MYH7	NM_000257.4(MYH7):c.1357C>T:p.Arg453Cys	coding	Pathogenic
14	23429038	G	A	G23429038A	MYH7	NM_000257.4(MYH7):c.1324C>T:p.Arg442Cys	coding	Pathogenic/Likely_pathogenic
14	23429061	C	T	C23429061T	MYH7	NM_000257.4(MYH7):c.1301G>A:p.Arg434Lys	coding	Benign/Likely_benign
14	23429079	G	T	G23429079T	MYH7	NM_000257.4(MYH7):c.1283C>A:p.Ala428Asp	coding	Pathogenic/Likely_pathogenic
14	23429252	T	A	T23429252A	MYH7	NM_000257.4(MYH7):c.1234A>T:p.Thr412Ser	coding	Pathogenic
14	23429256	G	A	G23429256A	MYH7	NM_000257.4(MYH7):c.1230C>T:p.Tyr410=	coding	Benign/Likely_benign
14	23429278	C	A	C23429278A	MYH7	NM_000257.4(MYH7):c.1208G>T:p.Arg403Leu	coding	Pathogenic
14	23429278	C	T	C23429278T	MYH7	NM_000257.4(MYH7):c.1208G>A:p.Arg403Gln	coding	Pathogenic
14	23429279	G	A	G23429279A	MYH7	NM_000257.4(MYH7):c.1207C>T:p.Arg403Trp	coding	Pathogenic
14	23429335	G	T	G23429335T	MYH7	NM_000257.4(MYH7):c.1151C>A:p.Ser384Tyr	coding	Pathogenic
14	23429785	G	A	G23429785A	MYH7	NM_000257.4(MYH7):c.1128C>T:p.Asp376=	coding	Benign
14	23429794	C	T	C23429794T	MYH7	NM_000257.4(MYH7):c.1119G>A:p.Ala373=	coding	Benign
14	23429818	C	T	C23429818T	MYH7	NM_000257.4(MYH7):c.1095G>A:p.Lys365=	coding	Benign
14	23429840	T	A	T23429840A	MYH7	NM_000257.4(MYH7):c.1073A>T:p.His358Leu	coding	Pathogenic
14	23429850	C	T	C23429850T	MYH7	NM_000257.4(MYH7):c.1063G>A:p.Ala355Thr	coding	Pathogenic/Likely_pathogenic
14	23429851	G	A	G23429851A	MYH7	NM_000257.4(MYH7):c.1062C>T:p.Gly354=	coding	Benign
14	23429911	G	A	G23429911A	MYH7	NM_000257.4(MYH7):c.1002C>T:p.Asn334=	coding	Benign
14	23430516	A	G	A23430516G	MYH7	NM_000257.4(MYH7):c.999+44T>C	noncoding	Benign
14	23430584	G	A	G23430584A	MYH7	NM_000257.4(MYH7):c.975C>T:p.Asp325=	coding	Benign
14	23430602	G	A	G23430602A	MYH7	NM_000257.4(MYH7):c.957C>T:p.Thr319=	coding	Benign/Likely_benign
14	23430629	A	G	A23430629G	MYH7	NM_000257.4(MYH7):c.930T>C:p.Tyr310=	coding	Benign
14	23430884	C	T	C23430884T	MYH7	NM_000257.4(MYH7):c.895+17G>A	noncoding	Benign
14	23430949	A	C	A23430949C	MYH7	NM_000257.4(MYH7):c.847T>G:p.Tyr283Asp	coding	Pathogenic
14	23430954	C	G	C23430954G	MYH7	NM_000257.4(MYH7):c.842G>C:p.Arg281Thr	coding	Pathogenic/Likely_pathogenic
14	23431426	A	G	A23431426G	MYH7	NM_000257.4(MYH7):c.788T>C:p.Ile263Thr	coding	Pathogenic
14	23431447	C	T	C23431447T	MYH7	NM_000257.4(MYH7):c.767G>A:p.Gly256Glu	coding	Pathogenic/Likely_pathogenic
14	23431453	G	T	G23431453T	MYH7	NM_000257.4(MYH7):c.761C>A:p.Ala254Glu	coding	Pathogenic
14	23431468	C	T	C23431468T	MYH7	NM_000257.4(MYH7):c.746G>A:p.Arg249Gln	coding	Pathogenic/Likely_pathogenic
14	23431583	A	C	A23431583C	MYH7	NM_000257.4(MYH7):c.732+2T>G	noncoding	Pathogenic
14	23431584	C	G	C23431584G	MYH7	NM_000257.4(MYH7):c.732+1G>C	noncoding	Pathogenic
14	23431584	C	T	C23431584T	MYH7	NM_000257.4(MYH7):c.732+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	23431585	G	A	G23431585A	MYH7	NM_000257.4(MYH7):c.732C>T:p.Phe244=	coding	Benign
14	23431587	A	G	A23431587G	MYH7	NM_000257.4(MYH7):c.730T>C:p.Phe244Leu	coding	Pathogenic
14	23431590	G	A	G23431590A	MYH7	NM_000257.4(MYH7):c.727C>T:p.Arg243Cys	coding	Pathogenic/Likely_pathogenic
14	23431602	C	T	C23431602T	MYH7	NM_000257.4(MYH7):c.715G>A:p.Asp239Asn	coding	Pathogenic/Likely_pathogenic
14	23431767	C	T	C23431767T	MYH7	NM_000257.4(MYH7):c.633G>A:p.Pro211=	coding	Benign/Likely_benign
14	23431798	A	G	A23431798G	MYH7	NM_000257.4(MYH7):c.602T>C:p.Ile201Thr	coding	Pathogenic/Likely_pathogenic
14	23431803	T	C	T23431803C	MYH7	NM_000257.4(MYH7):c.597A>G:p.Ala199=	coding	Benign
14	23431804	G	A	G23431804A	MYH7	NM_000257.4(MYH7):c.596C>T:p.Ala199Val	coding	Pathogenic/Likely_pathogenic
14	23432043	G	A	G23432043A	MYH7	NM_000257.4(MYH7):c.531-174C>T	noncoding	Benign
14	23432340	T	C	T23432340C	MYH7	NM_000257.4(MYH7):c.530+139A>G	noncoding	Benign
14	23432372	G	T	G23432372T	MYH7	NM_000257.4(MYH7):c.530+107C>A	noncoding	Benign
14	23432661	G	A	G23432661A	MYH7	NM_000257.4(MYH7):c.480C>T:p.Asn160=	coding	Benign
14	23432667	G	A	G23432667A	MYH7	NM_000257.4(MYH7):c.474C>T:p.Ser158=	coding	Benign/Likely_benign
14	23432703	C	A	C23432703A	MYH7	NM_000257.4(MYH7):c.438G>T:p.Lys146Asn	coding	Pathogenic/Likely_pathogenic
14	23432745	C	A	C23432745A	MYH7	NM_000257.4(MYH7):c.396G>T:p.Pro132=	coding	Benign/Likely_benign
14	23433102	G	A	G23433102A	MYH7	NM_000257.4(MYH7):c.327C>T:p.Tyr109=	coding	Benign
14	23433132	G	A	G23433132A	MYH7	NM_000257.4(MYH7):c.297C>T:p.Pro99=	coding	Benign
14	23433168	G	A	G23433168A	MYH7	NM_000257.4(MYH7):c.261C>T:p.Ile87=	coding	Benign
14	23433411	A	G	A23433411G	MYH7	NM_000257.4(MYH7):c.201+121T>C	noncoding	Benign
14	23433538	A	C	A23433538C	MYH7	NM_000257.4(MYH7):c.195T>G:p.Tyr65Ter	coding	Pathogenic
14	23433544	G	A	G23433544A	MYH7	NM_000257.4(MYH7):c.189C>T:p.Thr63=	coding	Benign
14	23433580	G	A	G23433580A	MYH7	NM_000257.4(MYH7):c.153C>T:p.Ile51=	coding	Benign/Likely_benign
14	23433656	G	A	G23433656A	MYH7	NM_000257.4(MYH7):c.77C>T:p.Ala26Val	coding	Benign
14	23434221	G	A	G23434221A	MYH7	NM_000257.4(MYH7):c.-36C>T	noncoding	Benign/Likely_benign
14	23522287	G	A	G23522287A	ZFHX2	NM_033400.3(ZFHX2):c.7394C>T:p.Pro2465Leu	coding	Benign
14	23523544	G	T	G23523544T	ZFHX2	NM_033400.3(ZFHX2):c.6398C>A:p.Thr2133Asn	coding	Benign
14	23524204	C	T	C23524204T	ZFHX2	NM_033400.3(ZFHX2):c.5738G>A:p.Arg1913Lys	coding	Pathogenic
14	23524936	G	A	G23524936A	ZFHX2	NM_033400.3(ZFHX2):c.5006C>T:p.Ala1669Val	coding	Benign
14	23524989	G	T	G23524989T	ZFHX2	NM_033400.3(ZFHX2):c.4953C>A:p.Arg1651=	coding	Benign
14	23525076	G	A	G23525076A	ZFHX2	NM_033400.3(ZFHX2):c.4866C>T:p.Asp1622=	coding	Benign
14	23525924	A	C	A23525924C	ZFHX2	NM_033400.3(ZFHX2):c.4018T>G:p.Phe1340Val	coding	Benign
14	23532992	C	T	C23532992T	ZFHX2	NM_033400.3(ZFHX2):c.2134G>A:p.Asp712Asn	coding	Benign
14	23535031	C	G	C23535031G	ZFHX2	NM_033400.3(ZFHX2):c.295G>C:p.Glu99Gln	coding	Benign
14	23638942	C	A	C23638942A	DHRS2	NM_005794.4(DHRS2):c.78C>A:p.Thr26=	coding	Benign
14	23638952	A	G	A23638952G	DHRS2	NM_005794.4(DHRS2):c.88A>G:p.Arg30Gly	coding	Benign
14	23639215	C	T	C23639215T	DHRS2	NM_005794.4(DHRS2):c.177C>T:p.Asp59=	coding	Benign
14	23639314	C	T	C23639314T	DHRS2	NM_005794.4(DHRS2):c.276C>T:p.Cys92=	coding	Benign
14	23645245	C	A	C23645245A	DHRS2	NM_005794.4(DHRS2):c.835C>A:p.Arg279=	coding	Benign
14	23953822	C	A	C23953822A	DHRS4	NM_021004.4(DHRS4):c.34C>A:p.Arg12=	coding	Benign
14	23966355	C	T	C23966355T	DHRS4	NM_021004.4(DHRS4):c.604C>T:p.Pro202Ser	coding	Benign
14	24001386	C	A	C24001386A	DHRS4L2	NM_198083.4(DHRS4L2):c.534C>A:p.Gly178=	coding	Benign
14	24080118	C	T	C24080118T	NRL	NM_006177.5(NRL):c.*1118G>A	noncoding	Benign
14	24080402	C	G	C24080402G	NRL	NM_006177.5(NRL):c.*834G>C	noncoding	Benign
14	24080569	G	A	G24080569A	NRL	NM_006177.5(NRL):c.*667C>T	noncoding	Benign
14	24080678	G	A	G24080678A	NRL	NM_006177.5(NRL):c.*558C>T	noncoding	Benign
14	24081015	C	T	C24081015T	NRL	NM_006177.5(NRL):c.*221G>A	noncoding	Benign
14	24081063	T	A	T24081063A	NRL	NM_006177.5(NRL):c.*173A>T	noncoding	Benign
14	24081239	G	C	G24081239C	NRL	NM_006177.5(NRL):c.711C>G:p.Leu237=	coding	Benign
14	24081361	G	A	G24081361A	NRL	NM_001354768.3(NRL):c.589C>T:p.Gln197Ter	coding	Pathogenic
14	24081406	G	A	G24081406A	NRL	NM_006177.5(NRL):c.544C>T:p.Gln182Ter	coding	Pathogenic
14	24081471	A	G	A24081471G	NRL	NM_006177.5(NRL):c.479T>C:p.Leu160Pro	coding	Pathogenic
14	24081509	C	T	C24081509T	NRL	NM_006177.5(NRL):c.441G>A:p.Arg147=	coding	Benign
14	24081548	G	A	G24081548A	NRL	NM_001354768.3(NRL):c.402C>T:p.Asp134=	coding	Benign
14	24081551	G	A	G24081551A	NRL	NM_001354768.3(NRL):c.399C>T:p.Ser133=	coding	Benign/Likely_benign
14	24082697	G	A	G24082697A	NRL	NM_001354768.3(NRL):c.152C>T:p.Pro51Leu	coding	Pathogenic
14	24082698	G	A	G24082698A	NRL	NM_006177.5(NRL):c.151C>T:p.Pro51Ser	coding	Pathogenic/Likely_pathogenic
14	24082698	G	T	G24082698T	NRL	NM_001354768.3(NRL):c.151C>A:p.Pro51Thr	coding	Pathogenic
14	24082700	G	A	G24082700A	NRL	NM_001354768.3(NRL):c.149C>T:p.Ser50Leu	coding	Pathogenic
14	24082701	A	T	A24082701T	NRL	NM_006177.5(NRL):c.148T>A:p.Ser50Thr	coding	Pathogenic
14	24082758	G	A	G24082758A	NRL	NM_006177.5(NRL):c.91C>T:p.Arg31Ter	coding	Pathogenic
14	24094411	C	T	C24094411T	PCK2	NM_004563.4(PCK2):c.6C>T:p.Ala2=	coding	Benign
14	24098299	T	C	T24098299C	PCK2	NM_004563.4(PCK2):c.372T>C:p.Pro124=	coding	Benign
14	24099590	G	A	G24099590A	PCK2	NM_004563.4(PCK2):c.885G>A:p.Lys295=	coding	Benign
14	24100074	C	T	C24100074T	PCK2	NM_004563.4(PCK2):c.1095C>T:p.Ala365=	coding	Benign
14	24100195	G	A	G24100195A	PCK2	NM_004563.4(PCK2):c.1216G>A:p.Gly406Ser	coding	Benign
14	24100209	A	G	A24100209G	PCK2	NM_004563.4(PCK2):c.1230A>G:p.Lys410=	coding	Benign
14	24103603	G	A	G24103603A	PCK2	NM_004563.4(PCK2):c.1562G>A:p.Arg521His	coding	Benign
14	24103723	G	A	G24103723A	PCK2	NM_004563.4(PCK2):c.1682G>A:p.Arg561Gln	coding	Benign
14	24117358	G	A	G24117358A	DCAF11	NM_025230.5(DCAF11):c.376G>A:p.Ala126Thr	coding	Benign
14	24132256	G	A	G24132256A	FITM1	NM_203402.2(FITM1):c.312G>A:p.Gly104=	coding	Benign
14	24132344	G	A	G24132344A	FITM1	NM_203402.2(FITM1):c.400G>A:p.Val134Met	coding	Benign
14	24132703	C	T	C24132703T	FITM1	NM_203402.2(FITM1):c.759C>T:p.Ala253=	coding	Benign
14	24144230	G	C	G24144230C	PSME2	NM_002818.3(PSME2):c.459C>G:p.Val153=	coding	Benign
14	24145409	G	A	G24145409A	PSME2	NM_002818.3(PSME2):c.201C>T:p.Pro67=	coding	Benign
14	24151658	G	T	G24151658T	RNF31	NM_017999.5(RNF31):c.1911G>T:p.Gly637=	coding	Benign
14	24160348	G	T	G24160348T	RNF31	NM_017999.5(RNF31):c.3106G>T:p.Val1036Leu	coding	Benign
14	24162195	G	A	G24162195A	IRF9	NM_006084.5(IRF9):c.51G>A:p.Val17=	coding	Benign
14	24162231	C	T	C24162231T	IRF9	NM_006084.5(IRF9):c.87C>T:p.Cys29=	coding	Benign
14	24162243	A	T	A24162243T	IRF9	NM_006084.5(IRF9):c.99A>T:p.Thr33=	coding	Benign
14	24162252	C	T	C24162252T	IRF9	NM_006084.5(IRF9):c.108C>T:p.Thr36=	coding	Benign
14	24163394	G	C	G24163394C	IRF9	NM_006084.5(IRF9):c.381G>C:p.Gln127His	coding	Benign
14	24173415	G	C	G24173415C	REC8	NM_001048205.2(REC8):c.462+4G>C	noncoding	Benign
14	24178620	G	A	G24178620A	REC8	NM_001048205.2(REC8):c.1011G>A:p.Pro337=	coding	Benign
14	24179090	G	A	G24179090A	REC8	NM_001048205.2(REC8):c.1209G>A:p.Pro403=	coding	Benign
14	24183860	G	A	G24183860A	IPO4	NM_024658.4(IPO4):c.1908C>T:p.Asp636=	coding	Benign
14	24184909	G	T	G24184909T	IPO4	NM_024658.4(IPO4):c.1480C>A:p.Pro494Thr	coding	Benign
14	24188730	G	A	G24188730A	IPO4	NM_024658.4(IPO4):c.58C>T:p.Arg20Cys	coding	Benign
14	24239706	A	G	A24239706G	TINF2	NM_001099274.3(TINF2):c.*91T>C	noncoding	Benign
14	24239764	G	A	G24239764A	TINF2	NM_001099274.3(TINF2):c.*33C>T	noncoding	Benign/Likely_benign
14	24239863	G	C	G24239863C	TINF2	NM_001099274.3(TINF2):c.1290C>G:p.Pro430=	coding	Benign/Likely_benign
14	24239917	G	A	G24239917A	TINF2	NM_001099274.3(TINF2):c.1236C>T:p.Asn412=	coding	Benign
14	24240145	C	T	C24240145T	TINF2	NM_001099274.3(TINF2):c.1140G>A:p.Pro380=	coding	Benign
14	24240300	C	T	C24240300T	TINF2	NM_001099274.3(TINF2):c.1092G>A:p.Leu364=	coding	Benign
14	24240609	T	C	T24240609C	TINF2	NM_001099274.3(TINF2):c.871A>G:p.Arg291Gly	coding	Pathogenic
14	24240618	A	G	A24240618G	TINF2	NM_001099274.3(TINF2):c.862T>C:p.Phe288Leu	coding	Pathogenic
14	24240620	A	G	A24240620G	TINF2	NM_001099274.3(TINF2):c.860T>C:p.Leu287Pro	coding	Pathogenic
14	24240630	T	C	T24240630C	TINF2	NM_001099274.3(TINF2):c.850A>G:p.Thr284Ala	coding	Pathogenic
14	24240632	G	T	G24240632T	TINF2	NM_001099274.3(TINF2):c.848C>A:p.Pro283His	coding	Pathogenic
14	24240633	G	A	G24240633A	TINF2	NM_001099274.3(TINF2):c.847C>T:p.Pro283Ser	coding	Pathogenic
14	24240633	G	C	G24240633C	TINF2	NM_001099274.3(TINF2):c.847C>G:p.Pro283Ala	coding	Pathogenic
14	24240635	C	T	C24240635T	TINF2	NM_001099274.3(TINF2):c.845G>A:p.Arg282His	coding	Pathogenic
14	24240636	G	A	G24240636A	TINF2	NM_001099274.3(TINF2):c.844C>T:p.Arg282Cys	coding	Pathogenic
14	24240636	G	T	G24240636T	TINF2	NM_001099274.3(TINF2):c.844C>A:p.Arg282Ser	coding	Pathogenic
14	24240642	T	A	T24240642A	TINF2	NM_001099274.3(TINF2):c.838A>T:p.Lys280Ter	coding	Pathogenic
14	24240642	T	C	T24240642C	TINF2	NM_001099274.3(TINF2):c.838A>G:p.Lys280Glu	coding	Pathogenic
14	24240669	G	A	G24240669A	TINF2	NM_001099274.3(TINF2):c.811C>T:p.Gln271Ter	coding	Pathogenic
14	24240675	G	A	G24240675A	TINF2	NM_001099274.3(TINF2):c.805C>T:p.Gln269Ter	coding	Pathogenic
14	24240709	G	A	G24240709A	TINF2	NM_001099274.3(TINF2):c.771C>T:p.His257=	coding	Benign
14	24240746	G	T	G24240746T	TINF2	NM_001099274.3(TINF2):c.734C>A:p.Ser245Tyr	coding	Benign/Likely_benign
14	24240759	G	A	G24240759A	TINF2	NM_001099274.3(TINF2):c.721C>T:p.Pro241Ser	coding	Benign
14	24240770	C	T	C24240770T	TINF2	NM_001099274.3(TINF2):c.710G>A:p.Gly237Asp	coding	Benign
14	24240774	G	A	G24240774A	TINF2	NM_001099274.3(TINF2):c.706C>T:p.Pro236Ser	coding	Benign/Likely_benign
14	24241199	G	A	G24241199A	TINF2	NM_001099274.3(TINF2):c.507+5C>T	noncoding	Benign
14	24241320	G	A	G24241320A	TINF2	NM_001099274.3(TINF2):c.400-9C>T	noncoding	Benign
14	24241715	T	C	T24241715C	TINF2	NM_001099274.3(TINF2):c.359A>G:p.Gln120Arg	coding	Benign
14	24241934	G	C	G24241934C	TINF2	NM_001099274.3(TINF2):c.253C>G:p.His85Asp	coding	Benign
14	24242259	C	G	C24242259G	TINF2	NM_001099274.3(TINF2):c.74G>C:p.Gly25Ala	coding	Benign/Likely_benign
14	24242423	G	A	G24242423A	TINF2	NM_001099274.3(TINF2):c.-91C>T	noncoding	Benign
14	24242504	T	G	T24242504G	TINF2	NM_001099274.3(TINF2):c.-172A>C	noncoding	Benign
14	24242557	C	T	C24242557T	TINF2	NM_001099274.3(TINF2):c.-225G>A	noncoding	Benign
14	24242592	C	G	C24242592G	TINF2	NM_001099274.3(TINF2):c.-260G>C	noncoding	Benign
14	24242598	C	T	C24242598T	TINF2	NM_001099274.3(TINF2):c.-266G>A	noncoding	Benign
14	24249362	T	A	T24249362A	TGM1	NM_000359.3(TGM1):c.2405A>T:p.Asp802Val	coding	Benign/Likely_benign
14	24249489	G	A	G24249489A	TGM1	NM_000359.3(TGM1):c.2278C>T:p.Arg760Ter	coding	Pathogenic
14	24249503	G	A	G24249503A	TGM1	NM_000359.3(TGM1):c.2264C>T:p.Ser755Leu	coding	Benign
14	24249509	C	T	C24249509T	TGM1	NM_000359.3(TGM1):c.2258G>A:p.Arg753His	coding	Benign
14	24254157	G	A	G24254157A	TGM1	NM_000359.3(TGM1):c.2220C>T:p.Asn740=	coding	Benign
14	24254282	C	A	C24254282A	TGM1	NM_000359.3(TGM1):c.2095G>T:p.Gly699Ter	coding	Pathogenic
14	24254825	C	T	C24254825T	TGM1	NM_000359.3(TGM1):c.1928-1G>A	coding	Pathogenic
14	24255080	G	A	G24255080A	TGM1	NM_000359.3(TGM1):c.1819C>T:p.Arg607Cys	coding	Benign
14	24255155	G	A	G24255155A	TGM1	NM_000359.3(TGM1):c.1744C>T:p.Gln582Ter	coding	Pathogenic/Likely_pathogenic
14	24255359	G	T	G24255359T	TGM1	NM_000359.3(TGM1):c.1645+5C>A	noncoding	Benign
14	24255388	T	G	T24255388G	TGM1	NM_000359.3(TGM1):c.1621A>C:p.Thr541Pro	coding	Pathogenic
14	24256063	C	T	C24256063T	TGM1	NM_000359.3(TGM1):c.1417G>A:p.Gly473Ser	coding	Pathogenic/Likely_pathogenic
14	24258380	T	C	T24258380C	TGM1	NM_000359.3(TGM1):c.1307A>G:p.His436Arg	coding	Pathogenic
14	24258534	C	T	C24258534T	TGM1	NM_000359.3(TGM1):c.1298+1G>A	noncoding	Pathogenic
14	24258646	C	A	C24258646A	TGM1	NM_000359.3(TGM1):c.1187G>T:p.Arg396Leu	coding	Pathogenic/Likely_pathogenic
14	24258646	C	T	C24258646T	TGM1	NM_000359.3(TGM1):c.1187G>A:p.Arg396His	coding	Pathogenic/Likely_pathogenic
14	24258658	C	T	C24258658T	TGM1	NM_000359.3(TGM1):c.1175G>A:p.Gly392Asp	coding	Pathogenic
14	24258667	C	G	C24258667G	TGM1	NM_000359.3(TGM1):c.1166G>C:p.Arg389Pro	coding	Pathogenic
14	24258667	C	T	C24258667T	TGM1	NM_000359.3(TGM1):c.1166G>A:p.Arg389His	coding	Pathogenic
14	24259087	C	T	C24259087T	TGM1	NM_000359.3(TGM1):c.1147G>A:p.Val383Met	coding	Pathogenic
14	24259088	G	T	G24259088T	TGM1	NM_000359.3(TGM1):c.1146C>A:p.Gly382=	coding	Benign
14	24259099	C	G	C24259099G	TGM1	NM_000359.3(TGM1):c.1135G>C:p.Val379Leu	coding	Pathogenic
14	24259121	G	A	G24259121A	TGM1	NM_000359.3(TGM1):c.1113C>T:p.Ser371=	coding	Benign/Likely_benign
14	24259140	T	C	T24259140C	TGM1	NM_000359.3(TGM1):c.1094A>G:p.Tyr365Cys	coding	Pathogenic
14	24259152	A	G	A24259152G	TGM1	NM_000359.3(TGM1):c.1082T>C:p.Ile361Thr	coding	Pathogenic
14	24259160	G	C	G24259160C	TGM1	NM_000359.3(TGM1):c.1074C>G:p.Ser358Arg	coding	Pathogenic
14	24259180	G	C	G24259180C	TGM1	NM_000359.3(TGM1):c.1054C>G:p.Pro352Ala	coding	Pathogenic
14	24259192	G	A	G24259192A	TGM1	NM_000359.3(TGM1):c.1042C>T:p.Arg348Ter	coding	Pathogenic
14	24259215	C	T	C24259215T	TGM1	NM_000359.3(TGM1):c.1019G>A:p.Gly340Glu	coding	Pathogenic
14	24259720	C	T	C24259720T	TGM1	NM_000359.3(TGM1):c.968G>A:p.Arg323Gln	coding	Pathogenic
14	24259744	C	A	C24259744A	TGM1	NM_000359.3(TGM1):c.944G>T:p.Arg315Leu	coding	Pathogenic/Likely_pathogenic
14	24259744	C	T	C24259744T	TGM1	NM_000359.3(TGM1):c.944G>A:p.Arg315His	coding	Pathogenic
14	24259769	G	A	G24259769A	TGM1	NM_000359.3(TGM1):c.919C>T:p.Arg307Trp	coding	Pathogenic/Likely_pathogenic
14	24259769	G	C	G24259769C	TGM1	NM_000359.3(TGM1):c.919C>G:p.Arg307Gly	coding	Pathogenic
14	24259813	T	C	T24259813C	TGM1	NM_000359.3(TGM1):c.877-2A>G	noncoding	Pathogenic
14	24259938	A	G	A24259938G	TGM1	NM_000359.3(TGM1):c.876+2T>C	noncoding	Pathogenic/Likely_pathogenic
14	24259944	C	T	C24259944T	TGM1	NM_000359.3(TGM1):c.872G>A:p.Gly291Asp	coding	Pathogenic/Likely_pathogenic
14	24259950	T	G	T24259950G	TGM1	NM_000359.3(TGM1):c.866A>C:p.Asn289Thr	coding	Pathogenic
14	24259959	C	T	C24259959T	TGM1	NM_000359.3(TGM1):c.857G>A:p.Arg286Gln	coding	Pathogenic
14	24259984	C	T	C24259984T	TGM1	NM_000359.3(TGM1):c.832G>A:p.Gly278Arg	coding	Pathogenic/Likely_pathogenic
14	24259990	A	T	A24259990T	TGM1	NM_000359.3(TGM1):c.826T>A:p.Tyr276Asn	coding	Pathogenic
14	24260026	G	A	G24260026A	TGM1	NM_000359.3(TGM1):c.790C>T:p.Arg264Trp	coding	Pathogenic/Likely_pathogenic
14	24260028	C	T	C24260028T	TGM1	NM_000359.3(TGM1):c.788G>A:p.Trp263Ter	coding	Pathogenic
14	24260481	C	T	C24260481T	TGM1	NM_000359.3(TGM1):c.726G>A:p.Glu242=	coding	Benign
14	24260593	A	T	A24260593T	TGM1	NM_000359.3(TGM1):c.614T>A:p.Leu205Gln	coding	Pathogenic
14	24260621	G	A	G24260621A	TGM1	NM_000359.3(TGM1):c.586C>T:p.Gln196Ter	coding	Pathogenic
14	24261695	C	A	C24261695A	TGM1	NM_000359.3(TGM1):c.508G>T:p.Gly170Ter	coding	Pathogenic
14	24261724	G	C	G24261724C	TGM1	NM_000359.3(TGM1):c.479C>G:p.Ser160Cys	coding	Pathogenic
14	24261771	C	T	C24261771T	TGM1	NM_000359.3(TGM1):c.432G>A:p.Gly144=	coding	Benign/Likely_benign
14	24261774	G	A	G24261774A	TGM1	NM_000359.3(TGM1):c.429C>T:p.Arg143=	coding	Benign/Likely_benign
14	24261775	C	T	C24261775T	TGM1	NM_000359.3(TGM1):c.428G>A:p.Arg143His	coding	Pathogenic/Likely_pathogenic
14	24261776	G	A	G24261776A	TGM1	NM_000359.3(TGM1):c.427C>T:p.Arg143Cys	coding	Pathogenic
14	24261776	G	C	G24261776C	TGM1	NM_000359.3(TGM1):c.427C>G:p.Arg143Gly	coding	Pathogenic
14	24261778	C	G	C24261778G	TGM1	NM_000359.3(TGM1):c.425G>C:p.Arg142Pro	coding	Pathogenic
14	24261778	C	T	C24261778T	TGM1	NM_000359.3(TGM1):c.425G>A:p.Arg142His	coding	Pathogenic
14	24261779	G	A	G24261779A	TGM1	NM_000359.3(TGM1):c.424C>T:p.Arg142Cys	coding	Pathogenic/Likely_pathogenic
14	24261792	G	A	G24261792A	TGM1	NM_000359.3(TGM1):c.411C>T:p.Asp137=	coding	Benign
14	24261820	T	C	T24261820C	TGM1	NM_000359.3(TGM1):c.383A>G:p.Glu128Gly	coding	Benign
14	24261824	G	A	G24261824A	TGM1	NM_000359.3(TGM1):c.379C>T:p.Arg127Ter	coding	Pathogenic
14	24261826	C	T	C24261826T	TGM1	NM_000359.3(TGM1):c.377G>A:p.Arg126His	coding	Pathogenic
14	24261837	C	T	C24261837T	TGM1	NM_000359.3(TGM1):c.366G>A:p.Ser122=	coding	Benign
14	24261838	G	A	G24261838A	TGM1	NM_000359.3(TGM1):c.365C>T:p.Ser122Leu	coding	Benign/Likely_benign
14	24261842	G	A	G24261842A	TGM1	NM_000359.3(TGM1):c.361C>T:p.Arg121Cys	coding	Benign/Likely_benign
14	24262026	G	A	G24262026A	TGM1	NM_000359.3(TGM1):c.319+8C>T	noncoding	Benign
14	24262037	G	A	G24262037A	TGM1	NM_000359.3(TGM1):c.316C>T:p.Arg106Ter	coding	Pathogenic
14	24262048	T	A	T24262048A	TGM1	NM_000359.3(TGM1):c.305A>T:p.Asp102Val	coding	Pathogenic
14	24262056	T	C	T24262056C	TGM1	NM_000359.3(TGM1):c.297A>G:p.Ala99=	coding	Benign
14	24262068	G	A	G24262068A	TGM1	NM_000359.3(TGM1):c.285C>T:p.Ser95=	coding	Benign
14	24262121	G	A	G24262121A	TGM1	NM_000359.3(TGM1):c.232C>T:p.Arg78Ter	coding	Pathogenic
14	24262169	C	A	C24262169A	TGM1	NM_000359.3(TGM1):c.184G>T:p.Gly62Ter	coding	Pathogenic
14	24262185	C	T	C24262185T	TGM1	NM_000359.3(TGM1):c.168G>A:p.Ala56=	coding	Benign/Likely_benign
14	24262193	G	A	G24262193A	TGM1	NM_000359.3(TGM1):c.160C>T:p.Arg54Ter	coding	Pathogenic
14	24262221	C	T	C24262221T	TGM1	NM_000359.3(TGM1):c.132G>A:p.Trp44Ter	coding	Pathogenic
14	24262222	C	T	C24262222T	TGM1	NM_000359.3(TGM1):c.131G>A:p.Trp44Ter	coding	Pathogenic
14	24262287	C	T	C24262287T	TGM1	NM_000359.3(TGM1):c.66G>A:p.Thr22=	coding	Benign
14	24262299	C	T	C24262299T	TGM1	NM_000359.3(TGM1):c.54G>A:p.Gln18=	coding	Benign
14	24269495	G	A	G24269495A	RABGGTA	NM_182836.2(RABGGTA):c.627C>T:p.Leu209=	coding	Benign
14	24311052	C	T	C24311052T	LTB4R2	NM_019839.5(LTB4R2):c.388C>T:p.Pro130Ser	coding	Benign
14	24311228	C	T	C24311228T	LTB4R2	NM_019839.5(LTB4R2):c.564C>T:p.Thr188=	coding	Benign
14	24315886	G	T	G24315886T	LTB4R	NM_001143919.3(LTB4R):c.235G>T:p.Ala79Ser	coding	Benign
14	24316005	G	A	G24316005A	LTB4R	NM_001143919.3(LTB4R):c.354G>A:p.Ala118=	coding	Benign
14	24318572	C	A	C24318572A	ADCY4	NM_001198568.2(ADCY4):c.3082-4G>T	noncoding	Benign
14	24369722	C	T	C24369722T	NFATC4	NM_004554.5(NFATC4):c.324C>T:p.Gly108=	coding	Benign
14	24409715	A	C	A24409715C	NYNRIN	NM_025081.3(NYNRIN):c.1921A>C:p.Lys641Gln	coding	Benign
14	24417063	C	T	C24417063T	NYNRIN	NM_025081.3(NYNRIN):c.5314C>T:p.Leu1772=	coding	Benign
14	24574311	G	A	G24574311A	CTSG	NM_001911.3(CTSG):c.528C>T:p.Phe176=	coding	Benign
14	24574465	T	C	T24574465C	CTSG	NM_001911.3(CTSG):c.374A>G:p.Asn125Ser	coding	Benign
14	24574745	G	A	G24574745A	CTSG	NM_001911.3(CTSG):c.269C>T:p.Thr90Ile	coding	Benign
14	24576180	C	G	C24576180G	CTSG	NM_001911.3(CTSG):c.44G>C:p.Gly15Ala	coding	Benign
14	24606604	T	A	T24606604A	GZMH	NM_033423.5(GZMH):c.740A>T:p.Ter247Leu	coding	Benign
14	24631158	A	G	A24631158G	GZMB	NM_004131.6(GZMB):c.657T>C:p.Tyr219=	coding	Benign
14	24632383	G	C	G24632383C	GZMB	NM_004131.6(GZMB):c.280C>G:p.Pro94Ala	coding	Benign
14	24632423	T	C	T24632423C	GZMB	NM_004131.6(GZMB):c.240A>G:p.Lys80=	coding	Benign
14	24634096	G	C	G24634096C	GZMB	NM_004131.6(GZMB):c.55+10C>G	noncoding	Benign
14	28767415	C	T	C28767415T	FOXG1	NM_005249.5(FOXG1):c.136C>T:p.Gln46Ter	coding	Pathogenic
14	28767441	T	C	T28767441C	FOXG1	NM_005249.5(FOXG1):c.162T>C:p.His54=	coding	Benign
14	28767444	C	T	C28767444T	FOXG1	NM_005249.5(FOXG1):c.165C>T:p.His55=	coding	Benign
14	28767468	G	T	G28767468T	FOXG1	NM_005249.5(FOXG1):c.189G>T:p.Pro63=	coding	Benign/Likely_benign
14	28767485	C	A	C28767485A	FOXG1	NM_005249.5(FOXG1):c.206C>A:p.Pro69Gln	coding	Benign/Likely_benign
14	28767488	A	C	A28767488C	FOXG1	NM_005249.5(FOXG1):c.209A>C:p.Gln70Pro	coding	Benign/Likely_benign
14	28767493	C	T	C28767493T	FOXG1	NM_005249.5(FOXG1):c.214C>T:p.Gln72Ter	coding	Pathogenic
14	28767496	C	T	C28767496T	FOXG1	NM_005249.5(FOXG1):c.217C>T:p.Gln73Ter	coding	Pathogenic
14	28767535	C	T	C28767535T	FOXG1	NM_005249.5(FOXG1):c.256C>T:p.Gln86Ter	coding	Pathogenic/Likely_pathogenic
14	28767580	C	T	C28767580T	FOXG1	NM_005249.5(FOXG1):c.301C>T:p.Gln101Ter	coding	Pathogenic
14	28767655	G	A	G28767655A	FOXG1	NM_005249.5(FOXG1):c.376G>A:p.Gly126Ser	coding	Benign/Likely_benign
14	28767657	C	T	C28767657T	FOXG1	NM_005249.5(FOXG1):c.378C>T:p.Gly126=	coding	Benign
14	28767664	G	T	G28767664T	FOXG1	NM_005249.5(FOXG1):c.385G>T:p.Glu129Ter	coding	Pathogenic
14	28767685	G	T	G28767685T	FOXG1	NM_005249.5(FOXG1):c.406G>T:p.Glu136Ter	coding	Pathogenic
14	28767697	G	A	G28767697A	FOXG1	NM_005249.5(FOXG1):c.418G>A:p.Val140Ile	coding	Benign
14	28767715	G	T	G28767715T	FOXG1	NM_005249.5(FOXG1):c.436G>T:p.Glu146Ter	coding	Pathogenic
14	28767734	G	C	G28767734C	FOXG1	NM_005249.5(FOXG1):c.455G>C:p.Gly152Ala	coding	Benign
14	28767739	G	T	G28767739T	FOXG1	NM_005249.5(FOXG1):c.460G>T:p.Glu154Ter	coding	Pathogenic
14	28767768	C	T	C28767768T	FOXG1	NM_005249.5(FOXG1):c.489C>T:p.Gly163=	coding	Benign/Likely_benign
14	28767782	G	C	G28767782C	FOXG1	NM_005249.5(FOXG1):c.503G>C:p.Gly168Ala	coding	Benign/Likely_benign
14	28767790	G	T	G28767790T	FOXG1	NM_005249.5(FOXG1):c.511G>T:p.Glu171Ter	coding	Pathogenic
14	28767817	G	T	G28767817T	FOXG1	NM_005249.5(FOXG1):c.538G>T:p.Glu180Ter	coding	Pathogenic
14	28767840	C	A	C28767840A	FOXG1	NM_005249.5(FOXG1):c.561C>A:p.Asn187Lys	coding	Pathogenic
14	28767840	C	G	C28767840G	FOXG1	NM_005249.5(FOXG1):c.561C>G:p.Asn187Lys	coding	Pathogenic
14	28767856	G	A	G28767856A	FOXG1	NM_005249.5(FOXG1):c.577G>A:p.Ala193Thr	coding	Pathogenic
14	28767865	C	T	C28767865T	FOXG1	NM_005249.5(FOXG1):c.586C>T:p.Gln196Ter	coding	Pathogenic
14	28767869	G	T	G28767869T	FOXG1	NM_005249.5(FOXG1):c.590G>T:p.Ser197Ile	coding	Pathogenic
14	28767903	C	A	C28767903A	FOXG1	NM_005249.5(FOXG1):c.624C>A:p.Tyr208Ter	coding	Pathogenic
14	28767903	C	G	C28767903G	FOXG1	NM_005249.5(FOXG1):c.624C>G:p.Tyr208Ter	coding	Pathogenic
14	28767911	T	C	T28767911C	FOXG1	NM_005249.5(FOXG1):c.632T>C:p.Ile211Thr	coding	Pathogenic
14	28767922	T	C	T28767922C	FOXG1	NM_005249.5(FOXG1):c.643T>C:p.Phe215Leu	coding	Pathogenic
14	28767930	C	G	C28767930G	FOXG1	NM_005249.5(FOXG1):c.651C>G:p.Tyr217Ter	coding	Pathogenic
14	28767946	C	T	C28767946T	FOXG1	NM_005249.5(FOXG1):c.667C>T:p.Gln223Ter	coding	Pathogenic
14	28767955	C	T	C28767955T	FOXG1	NM_005249.5(FOXG1):c.676C>T:p.Gln226Ter	coding	Pathogenic
14	28767968	G	A	G28767968A	FOXG1	NM_005249.5(FOXG1):c.689G>A:p.Arg230His	coding	Pathogenic
14	28767979	T	C	T28767979C	FOXG1	NM_005249.5(FOXG1):c.700T>C:p.Ser234Pro	coding	Pathogenic
14	28767987	C	A	C28767987A	FOXG1	NM_005249.5(FOXG1):c.708C>A:p.Asn236Lys	coding	Pathogenic
14	28767996	C	G	C28767996G	FOXG1	NM_005249.5(FOXG1):c.717C>G:p.Phe239Leu	coding	Pathogenic
14	28768009	C	T	C28768009T	FOXG1	NM_005249.5(FOXG1):c.730C>T:p.Arg244Cys	coding	Pathogenic
14	28768017	C	G	C28768017G	FOXG1	NM_005249.5(FOXG1):c.738C>G:p.Tyr246Ter	coding	Pathogenic
14	28768036	A	G	A28768036G	FOXG1	NM_005249.5(FOXG1):c.757A>G:p.Asn253Asp	coding	Pathogenic
14	28768041	C	A	C28768041A	FOXG1	NM_005249.5(FOXG1):c.762C>A:p.Tyr254Ter	coding	Pathogenic
14	28768041	C	G	C28768041G	FOXG1	NM_005249.5(FOXG1):c.762C>G:p.Tyr254Ter	coding	Pathogenic
14	28768044	G	A	G28768044A	FOXG1	NM_005249.5(FOXG1):c.765G>A:p.Trp255Ter	coding	Pathogenic
14	28768044	G	T	G28768044T	FOXG1	NM_005249.5(FOXG1):c.765G>T:p.Trp255Cys	coding	Pathogenic
14	28768049	T	C	T28768049C	FOXG1	NM_005249.5(FOXG1):c.770T>C:p.Leu257Pro	coding	Pathogenic
14	28768055	C	G	C28768055G	FOXG1	NM_005249.5(FOXG1):c.776C>G:p.Pro259Arg	coding	Pathogenic
14	28768076	T	A	T28768076A	FOXG1	NM_005249.5(FOXG1):c.797T>A:p.Ile266Asn	coding	Pathogenic
14	28768078	G	A	G28768078A	FOXG1	NM_005249.5(FOXG1):c.799G>A:p.Gly267Ser	coding	Pathogenic/Likely_pathogenic
14	28768100	G	A	G28768100A	FOXG1	NM_005249.5(FOXG1):c.821G>A:p.Arg274Gln	coding	Pathogenic
14	28768138	A	T	A28768138T	FOXG1	NM_005249.5(FOXG1):c.859A>T:p.Lys287Ter	coding	Pathogenic
14	28768203	G	A	G28768203A	FOXG1	NM_005249.5(FOXG1):c.924G>A:p.Trp308Ter	coding	Pathogenic
14	28768302	C	G	C28768302G	FOXG1	NM_005249.5(FOXG1):c.1023C>G:p.Tyr341Ter	coding	Pathogenic
14	28768440	G	A	G28768440A	FOXG1	NM_005249.5(FOXG1):c.1161G>A:p.Ser387=	coding	Benign/Likely_benign
14	28768449	C	A	C28768449A	FOXG1	NM_005249.5(FOXG1):c.1170C>A:p.Cys390Ter	coding	Pathogenic
14	28768479	C	A	C28768479A	FOXG1	NM_005249.5(FOXG1):c.1200C>A:p.Tyr400Ter	coding	Pathogenic
14	28768479	C	G	C28768479G	FOXG1	NM_005249.5(FOXG1):c.1200C>G:p.Tyr400Ter	coding	Pathogenic
14	28768497	C	G	C28768497G	FOXG1	NM_005249.5(FOXG1):c.1218C>G:p.Ser406=	coding	Benign
14	28768512	G	A	G28768512A	FOXG1	NM_005249.5(FOXG1):c.1233G>A:p.Ala411=	coding	Benign
14	28768527	C	G	C28768527G	FOXG1	NM_005249.5(FOXG1):c.1248C>G:p.Tyr416Ter	coding	Pathogenic
14	28768678	C	T	C28768678T	FOXG1	NM_005249.5(FOXG1):c.1399C>T:p.Leu467=	coding	Benign/Likely_benign
14	28768762	C	A	C28768762A	FOXG1	NM_005249.5(FOXG1):c.*13C>A	noncoding	Benign
14	29577259	A	C	A29577259C	PRKD1	NM_002742.3(PRKD1):c.2718T>G:p.Gly906=	coding	Benign
14	29577320	T	C	T29577320C	PRKD1	NM_002742.3(PRKD1):c.2657A>G:p.Asn886Ser	coding	Benign
14	29578338	C	T	C29578338T	PRKD1	NM_002742.3(PRKD1):c.2457G>A:p.Leu819=	coding	Benign
14	29597503	T	C	T29597503C	PRKD1	NM_002742.3(PRKD1):c.2422A>G:p.Ile808Val	coding	Benign/Likely_benign
14	29599770	C	T	C29599770T	PRKD1	NM_002742.3(PRKD1):c.1953G>A:p.Thr651=	coding	Benign
14	29626508	C	T	C29626508T	PRKD1	NM_002742.3(PRKD1):c.1774G>A:p.Gly592Arg	coding	Pathogenic
14	29630994	G	A	G29630994A	PRKD1	NM_002742.3(PRKD1):c.1420C>T:p.Leu474=	coding	Benign
14	29632863	T	C	T29632863C	PRKD1	NM_002742.3(PRKD1):c.1392+6A>G	noncoding	Benign
14	29632905	G	A	G29632905A	PRKD1	NM_002742.3(PRKD1):c.1356C>T:p.Thr452=	coding	Benign
14	29632954	A	G	A29632954G	PRKD1	NM_002742.3(PRKD1):c.1315-8T>C	noncoding	Benign
14	29634547	G	A	G29634547A	PRKD1	NM_002742.3(PRKD1):c.1191-6C>T	noncoding	Benign
14	29636340	G	A	G29636340A	PRKD1	NM_002742.3(PRKD1):c.1140C>T:p.Gly380=	coding	Benign
14	29636459	T	G	T29636459G	PRKD1	NM_002742.3(PRKD1):c.1021A>C:p.Met341Leu	coding	Benign
14	29638573	C	T	C29638573T	PRKD1	NM_002742.3(PRKD1):c.908-7G>A	noncoding	Benign
14	29638705	A	C	A29638705C	PRKD1	NM_002742.3(PRKD1):c.896T>G:p.Leu299Trp	coding	Pathogenic
14	29663777	G	A	G29663777A	PRKD1	NM_002742.3(PRKD1):c.618C>T:p.Asn206=	coding	Benign
14	29725679	A	G	A29725679G	PRKD1	NM_002742.3(PRKD1):c.265-5T>C	noncoding	Benign
14	29927408	G	A	G29927408A	PRKD1	NM_002742.3(PRKD1):c.105C>T:p.Pro35=	coding	Benign
14	30650657	C	T	C30650657T	SCFD1	NM_016106.4(SCFD1):c.755+7C>T	noncoding	Benign
14	30874833	A	G	A30874833G	COCH	NM_004086.3(COCH):c.-23-83A>G	noncoding	Benign
14	30877640	C	T	C30877640T	COCH	NM_004086.3(COCH):c.151C>T:p.Pro51Ser	coding	Pathogenic
14	30877686	T	G	T30877686G	COCH	NM_004086.3(COCH):c.197T>G:p.Val66Gly	coding	Pathogenic
14	30877806	T	C	T30877806C	COCH	NM_004086.3(COCH):c.239+78T>C	noncoding	Benign
14	30878834	G	A	G30878834A	COCH	NM_004086.3(COCH):c.263G>A:p.Gly88Glu	coding	Pathogenic
14	30878863	C	T	C30878863T	COCH	NM_004086.3(COCH):c.292C>T:p.Arg98Ter	coding	Pathogenic
14	30878897	T	A	T30878897A	COCH	NM_004086.3(COCH):c.326T>A:p.Ile109Asn	coding	Pathogenic
14	30878920	T	C	T30878920C	COCH	NM_004086.3(COCH):c.349T>C:p.Trp117Arg	coding	Pathogenic
14	30879478	A	G	A30879478G	COCH	NM_004086.3(COCH):c.429A>G:p.Pro143=	coding	Benign
14	30880739	C	T	C30880739T	COCH	NM_004086.3(COCH):c.629+5C>T	noncoding	Benign
14	30884544	T	C	T30884544C	COCH	NM_004086.3(COCH):c.630-9T>C	coding	Benign
14	30885501	G	A	G30885501A	COCH	NM_004086.3(COCH):c.841G>A:p.Asp281Asn	coding	Benign
14	30885861	C	T	C30885861T	COCH	NM_004086.3(COCH):c.1026C>T:p.Tyr342=	coding	Benign
14	30885890	C	G	C30885890G	COCH	NM_004086.3(COCH):c.1055C>G:p.Thr352Ser	coding	Benign
14	30885950	T	C	T30885950C	COCH	NM_004086.3(COCH):c.1115T>C:p.Ile372Thr	coding	Pathogenic
14	30885994	C	T	C30885994T	COCH	NM_004086.3(COCH):c.1159C>T:p.Leu387Phe	coding	Pathogenic
14	30886002	T	C	T30886002C	COCH	NM_004086.3(COCH):c.1167T>C:p.Phe389=	coding	Benign
14	30886039	A	G	A30886039G	COCH	NM_004086.3(COCH):c.1204A>G:p.Ile402Val	coding	Benign/Likely_benign
14	30886104	C	T	C30886104T	COCH	NM_004086.3(COCH):c.1269C>T:p.Asp423=	coding	Benign
14	30886105	T	G	T30886105G	COCH	NM_004086.3(COCH):c.1270T>G:p.Tyr424Asp	coding	Benign/Likely_benign
14	30886321	C	A	C30886321A	COCH	NM_004086.3(COCH):c.1477+9C>A	coding	Benign
14	30889673	T	C	T30889673C	COCH	NM_004086.3(COCH):c.1535T>C:p.Met512Thr	coding	Pathogenic
14	30889691	A	G	A30889691G	COCH	NM_004086.3(COCH):c.1553A>G:p.Glu518Gly	coding	Benign
14	30889763	G	A	G30889763A	COCH	NM_004086.3(COCH):c.1625G>A:p.Cys542Tyr	coding	Pathogenic
14	30889763	G	T	G30889763T	COCH	NM_004086.3(COCH):c.1625G>T:p.Cys542Phe	coding	Pathogenic
14	30889818	A	T	A30889818T	COCH	NM_004086.3(COCH):c.*27A>T	noncoding	Benign
14	30889830	G	T	G30889830T	COCH	NM_004086.3(COCH):c.*39G>T	noncoding	Benign
14	30890198	C	T	C30890198T	COCH	NM_004086.3(COCH):c.*407C>T	noncoding	Benign
14	31025782	G	A	G31025782A	AP4S1	NM_001128126.3(AP4S1):c.-77G>A	coding	Benign
14	31065851	A	G	A31065851G	AP4S1	NM_001128126.3(AP4S1):c.-71-275A>G	noncoding	Benign
14	31066239	C	T	C31066239T	AP4S1	NM_001128126.3(AP4S1):c.43C>T:p.Arg15Ter	coding	Pathogenic
14	31066320	C	T	C31066320T	AP4S1	NM_001128126.3(AP4S1):c.124C>T:p.Arg42Ter	coding	Pathogenic
14	31069733	A	G	A31069733G	AP4S1	NM_001128126.3(AP4S1):c.139-110A>G	noncoding	Benign
14	31069858	T	C	T31069858C	AP4S1	NM_001128126.3(AP4S1):c.154T>C:p.Tyr52His	coding	Benign
14	31072908	G	T	G31072908T	AP4S1	NM_001128126.3(AP4S1):c.229G>T:p.Glu77Ter	coding	Pathogenic
14	31072974	G	C	G31072974C	AP4S1	NM_001128126.3(AP4S1):c.294+1G>C	coding	Pathogenic
14	31080626	G	A	G31080626A	AP4S1	NM_001128126.3(AP4S1):c.306+42G>A	coding	Benign/Likely_benign
14	31084514	T	G	T31084514G	AP4S1	NM_001128126.3(AP4S1):c.306+3930T>G	noncoding	Benign
14	31084867	C	T	C31084867T	AP4S1	NM_001128126.3(AP4S1):c.306+4283C>T	coding	Benign/Likely_benign
14	31101195	G	A	G31101195A	HECTD1	NM_015382.4(HECTD1):c.7680C>T:p.Leu2560=	coding	Benign
14	31103045	G	A	G31103045A	HECTD1	NM_015382.4(HECTD1):c.7421C>T:p.Pro2474Leu	coding	Benign
14	31128892	T	C	T31128892C	HECTD1	NM_015382.4(HECTD1):c.4479A>G:p.Ser1493=	coding	Benign
14	31148713	A	G	A31148713G	HECTD1	NM_015382.4(HECTD1):c.2496+8T>C	noncoding	Benign
14	31149087	A	G	A31149087G	HECTD1	NM_015382.4(HECTD1):c.2229T>C:p.Pro743=	coding	Benign
14	31150084	A	G	A31150084G	HECTD1	NM_015382.4(HECTD1):c.2070T>C:p.Ser690=	coding	Benign
14	31168320	G	C	G31168320C	HECTD1	NM_015382.4(HECTD1):c.1600C>G:p.Gln534Glu	coding	Benign
14	31168347	A	G	A31168347G	HECTD1	NM_015382.4(HECTD1):c.1573T>C:p.Leu525=	coding	Benign
14	31578244	C	A	C31578244A	NUBPL	NM_025152.3(NUBPL):c.291+13196C>A	noncoding	Benign
14	31599009	A	G	A31599009G	NUBPL	NM_025152.3(NUBPL):c.292-280A>G	noncoding	Benign
14	31599036	A	C	A31599036C	NUBPL	NM_025152.3(NUBPL):c.292-253A>C	noncoding	Benign
14	31599308	T	C	T31599308C	NUBPL	NM_025152.3(NUBPL):c.311T>C:p.Leu104Pro	coding	Pathogenic/Likely_pathogenic
14	31599348	G	A	G31599348A	NUBPL	NM_025152.3(NUBPL):c.351G>A:p.Met117Ile	coding	Pathogenic
14	31673724	A	G	A31673724G	NUBPL	NM_025152.3(NUBPL):c.513+150A>G	noncoding	Benign
14	31787505	A	G	A31787505G	NUBPL	NM_025152.3(NUBPL):c.514-275A>G	noncoding	Benign
14	31787509	G	A	G31787509A	NUBPL	NM_025152.3(NUBPL):c.514-271G>A	noncoding	Benign
14	31787748	A	G	A31787748G	NUBPL	NM_025152.3(NUBPL):c.514-32A>G	noncoding	Benign
14	31787845	A	C	A31787845C	NUBPL	NM_025152.3(NUBPL):c.579A>C:p.Leu193Phe	coding	Pathogenic
14	31826715	G	A	G31826715A	NUBPL	NM_025152.3(NUBPL):c.693+1G>A	coding	Pathogenic
14	31826950	G	A	G31826950A	NUBPL	NM_025152.3(NUBPL):c.693+236G>A	noncoding	Benign
14	31846503	C	G	C31846503G	NUBPL	NM_025152.3(NUBPL):c.726C>G:p.Phe242Leu	coding	Pathogenic
14	31849939	A	G	A31849939G	NUBPL	NM_025152.3(NUBPL):c.815-180A>G	noncoding	Benign
14	31850027	G	A	G31850027A	NUBPL	NM_025152.3(NUBPL):c.815-92G>A	noncoding	Benign
14	31850035	T	G	T31850035G	NUBPL	NM_025152.3(NUBPL):c.815-84T>G	noncoding	Benign
14	31850282	C	T	C31850282T	NUBPL	NM_025152.3(NUBPL):c.897+81C>T	noncoding	Benign
14	31850356	A	G	A31850356G	NUBPL	NM_025152.3(NUBPL):c.897+155A>G	noncoding	Benign
14	31850365	A	G	A31850365G	NUBPL	NM_025152.3(NUBPL):c.897+164A>G	noncoding	Benign
14	31858958	G	T	G31858958T	NUBPL	NM_025152.3(NUBPL):c.898-160G>T	noncoding	Benign
14	31859302	G	C	G31859302C	NUBPL	NM_025152.3(NUBPL):c.*122G>C	noncoding	Benign
14	31859453	C	T	C31859453T	NUBPL	NM_025152.3(NUBPL):c.*273C>T	noncoding	Benign
14	31859492	G	A	G31859492A	NUBPL	NM_025152.3(NUBPL):c.*312G>A	noncoding	Benign
14	31859624	C	T	C31859624T	NUBPL	NM_025152.3(NUBPL):c.*444C>T	noncoding	Benign
14	31860016	C	G	C31860016G	NUBPL	NM_025152.3(NUBPL):c.*836C>G	noncoding	Benign
14	31860865	A	G	A31860865G	NUBPL	NM_025152.3(NUBPL):c.*1685A>G	noncoding	Benign
14	31860874	G	A	G31860874A	NUBPL	NM_025152.3(NUBPL):c.*1694G>A	noncoding	Benign
14	31861054	A	G	A31861054G	NUBPL	NM_025152.3(NUBPL):c.*1874A>G	noncoding	Benign
14	31861068	G	A	G31861068A	NUBPL	NM_025152.3(NUBPL):c.*1888G>A	noncoding	Benign
14	32091695	A	G	A32091695G	ARHGAP5	NM_001030055.2(ARHGAP5):c.1026A>G:p.Leu342=	coding	Benign
14	32091923	A	G	A32091923G	ARHGAP5	NM_001030055.2(ARHGAP5):c.1254A>G:p.Val418=	coding	Benign
14	32092847	A	G	A32092847G	ARHGAP5	NM_001030055.2(ARHGAP5):c.2178A>G:p.Gln726=	coding	Benign
14	32092973	T	C	T32092973C	ARHGAP5	NM_001030055.2(ARHGAP5):c.2304T>C:p.Pro768=	coding	Benign
14	32093527	A	G	A32093527G	ARHGAP5	NM_001030055.2(ARHGAP5):c.2858A>G:p.Asn953Ser	coding	Benign
14	32093582	C	T	C32093582T	ARHGAP5	NM_001030055.2(ARHGAP5):c.2913C>T:p.Asp971=	coding	Benign
14	32546325	A	G	A32546325G	AKAP6	NM_004274.5(AKAP6):c.1672A>G:p.Asn558Asp	coding	Benign
14	32600736	G	A	G32600736A	AKAP6	NM_004274.5(AKAP6):c.2674G>A:p.Glu892Lys	coding	Benign
14	32822359	A	G	A32822359G	AKAP6	NM_004274.5(AKAP6):c.4546A>G:p.Thr1516Ala	coding	Benign
14	32824317	G	A	G32824317A	AKAP6	NM_004274.5(AKAP6):c.6504G>A:p.Glu2168=	coding	Benign
14	33215335	T	C	T33215335C	NPAS3	NM_173159.3(NPAS3):c.204T>C:p.Ile68=	coding	Benign
14	33676202	G	A	G33676202A	NPAS3	NM_173159.3(NPAS3):c.520-9G>A	noncoding	Benign
14	33797523	C	T	C33797523T	NPAS3	NM_173159.3(NPAS3):c.1329C>T:p.Ser443=	coding	Benign
14	33799786	C	T	C33799786T	NPAS3	NM_173159.3(NPAS3):c.1440C>T:p.Ser480=	coding	Benign
14	33800164	C	G	C33800164G	NPAS3	NM_173159.3(NPAS3):c.1818C>G:p.Ser606Arg	coding	Benign
14	33800404	T	G	T33800404G	NPAS3	NM_173159.3(NPAS3):c.2058T>G:p.Gly686=	coding	Benign
14	33800563	G	A	G33800563A	NPAS3	NM_173159.3(NPAS3):c.2217G>A:p.Ser739=	coding	Benign
14	33929099	T	C	T33929099C	EGLN3	NM_022073.4(EGLN3):c.591A>G:p.Glu197=	coding	Benign
14	33950541	C	T	C33950541T	EGLN3	NM_022073.4(EGLN3):c.212G>A:p.Arg71Gln	coding	Benign
14	34710827	C	A	C34710827A	CFL2	NM_138638.5(CFL2):c.*2038G>T	noncoding	Benign
14	34710960	T	C	T34710960C	CFL2	NM_138638.5(CFL2):c.*1905A>G	noncoding	Benign
14	34711183	T	A	T34711183A	CFL2	NM_138638.5(CFL2):c.*1682A>T	noncoding	Benign
14	34711940	A	G	A34711940G	CFL2	NM_138638.5(CFL2):c.*925T>C	noncoding	Benign
14	34712456	A	C	A34712456C	CFL2	NM_138638.5(CFL2):c.*409T>G	noncoding	Benign
14	34712580	T	C	T34712580C	CFL2	NM_138638.5(CFL2):c.*285A>G	noncoding	Benign
14	34712830	G	A	G34712830A	CFL2	NM_138638.5(CFL2):c.*35C>T	noncoding	Benign
14	34713462	C	T	C34713462T	CFL2	NM_138638.5(CFL2):c.103G>A:p.Ala35Thr	coding	Pathogenic
14	34713550	A	G	A34713550G	CFL2	NM_138638.5(CFL2):c.15T>C:p.Val5=	coding	Benign/Likely_benign
14	34714007	T	C	T34714007C	CFL2	NM_138638.5(CFL2):c.4-446A>G	noncoding	Benign
14	34714682	C	G	C34714682G	CFL2	NM_021914.7(CFL2):c.-1006G>C	noncoding	Benign
14	34714781	G	T	G34714781T	CFL2	NM_021914.7(CFL2):c.-1105C>A	noncoding	Benign
14	34715022	C	T	C34715022T	CFL2	NM_021914.7(CFL2):c.-1346G>A	noncoding	Benign
14	34715040	T	C	T34715040C	CFL2	NM_021914.7(CFL2):c.-1364A>G	noncoding	Benign
14	34715117	T	C	T34715117C	CFL2	NM_021914.7(CFL2):c.-1441A>G	noncoding	Benign
14	34771534	C	T	C34771534T	BAZ1A	NM_013448.3(BAZ1A):c.3278G>A:p.Arg1093Gln	coding	Pathogenic
14	34773673	C	T	C34773673T	BAZ1A	NM_013448.3(BAZ1A):c.3051G>A:p.Leu1017=	coding	Benign
14	34776126	G	A	G34776126A	BAZ1A	NM_013448.3(BAZ1A):c.2626C>T:p.Arg876Cys	coding	Benign
14	35007364	G	C	G35007364C	SRP54	NM_003136.4(SRP54):c.337G>C:p.Gly113Arg	coding	Pathogenic
14	35007370	A	G	A35007370G	SRP54	NM_003136.4(SRP54):c.343A>G:p.Thr115Ala	coding	Pathogenic
14	35013377	C	A	C35013377A	SRP54	NM_003136.4(SRP54):c.668C>A:p.Ala223Asp	coding	Pathogenic
14	35013837	G	A	G35013837A	SRP54	NM_003136.4(SRP54):c.821G>A:p.Gly274Asp	coding	Pathogenic
14	35014751	C	T	C35014751T	SRP54	NM_003136.4(SRP54):c.894C>T:p.Gly298=	coding	Benign
14	35053286	C	T	C35053286T	FAM177A1	NM_001079519.1(FAM177A1):c.105C>T:p.Asn35=	coding	Benign
14	35091134	A	G	A35091134G	PPP2R3C	NM_017917.3(PPP2R3C):c.1049T>C:p.Phe350Ser	coding	Pathogenic
14	35099380	A	G	A35099380G	PPP2R3C	NM_017917.3(PPP2R3C):c.578T>C:p.Leu193Ser	coding	Pathogenic
14	35109915	A	G	A35109915G	PPP2R3C	NM_017917.3(PPP2R3C):c.308T>C:p.Leu103Pro	coding	Pathogenic
14	35401592	C	T	C35401592T	NFKBIA	NM_020529.2(NFKBIA):c.*421G>A	noncoding	Benign
14	35401750	C	A	C35401750A	NFKBIA	NM_020529.2(NFKBIA):c.*263G>T	noncoding	Benign
14	35401818	G	A	G35401818A	NFKBIA	NM_020529.2(NFKBIA):c.*195C>T	noncoding	Benign
14	35401887	C	T	C35401887T	NFKBIA	NM_020529.2(NFKBIA):c.*126G>A	noncoding	Benign
14	35401914	A	T	A35401914T	NFKBIA	NM_020529.3(NFKBIA):c.*99T>A	noncoding	Benign
14	35401995	C	G	C35401995G	NFKBIA	NM_020529.2(NFKBIA):c.*18G>C	noncoding	Benign
14	35402011	G	A	G35402011A	NFKBIA	NM_020529.3(NFKBIA):c.*2C>T	noncoding	Benign
14	35402026	C	T	C35402026T	NFKBIA	NM_020529.3(NFKBIA):c.941G>A:p.Arg314His	coding	Benign
14	35402397	G	A	G35402397A	NFKBIA	NM_020529.3(NFKBIA):c.903C>T:p.Asp301=	coding	Benign
14	35402406	G	A	G35402406A	NFKBIA	NM_020529.2(NFKBIA):c.894C>T:p.Phe298=	coding	Benign/Likely_benign
14	35402826	C	G	C35402826G	NFKBIA	NM_020529.2(NFKBIA):c.581G>C:p.Gly194Ala	coding	Benign/Likely_benign
14	35402862	G	A	G35402862A	NFKBIA	NM_020529.2(NFKBIA):c.548-3C>T	noncoding	Benign/Likely_benign
14	35403687	C	T	C35403687T	NFKBIA	NM_020529.2(NFKBIA):c.336+3G>A	noncoding	Benign
14	35403720	G	A	G35403720A	NFKBIA	NM_020529.3(NFKBIA):c.306C>T:p.Ala102=	coding	Benign
14	35403783	G	A	G35403783A	NFKBIA	NM_020529.2(NFKBIA):c.243C>T:p.Ala81=	coding	Benign
14	35404424	C	G	C35404424G	NFKBIA	NM_020529.3(NFKBIA):c.221G>C:p.Gly74Ala	coding	Benign
14	35404505	T	C	T35404505C	NFKBIA	NM_020529.3(NFKBIA):c.140A>G:p.Lys47Arg	coding	Benign
14	35404535	A	C	A35404535C	NFKBIA	NM_020529.2(NFKBIA):c.110T>G:p.Met37Arg	coding	Pathogenic
14	35404535	A	T	A35404535T	NFKBIA	NM_020529.2(NFKBIA):c.110T>A:p.Met37Lys	coding	Pathogenic
14	35404538	G	T	G35404538T	NFKBIA	NM_020529.2(NFKBIA):c.107C>A:p.Ser36Tyr	coding	Pathogenic
14	35404549	G	C	G35404549C	NFKBIA	NM_020529.2(NFKBIA):c.96C>G:p.Ser32Arg	coding	Pathogenic
14	35404550	C	A	C35404550A	NFKBIA	NM_020529.2(NFKBIA):c.95G>T:p.Ser32Ile	coding	Pathogenic
14	35404550	C	T	C35404550T	NFKBIA	NM_020529.2(NFKBIA):c.95G>A:p.Ser32Asn	coding	Pathogenic
14	35404551	T	C	T35404551C	NFKBIA	NM_020529.2(NFKBIA):c.94A>G:p.Ser32Gly	coding	Pathogenic
14	35404564	G	A	G35404564A	NFKBIA	NM_020529.3(NFKBIA):c.81C>T:p.Asp27=	coding	Benign
14	35404567	C	T	C35404567T	NFKBIA	NM_020529.2(NFKBIA):c.78G>A:p.Leu26=	coding	Benign/Likely_benign
14	35404605	C	A	C35404605A	NFKBIA	NM_020529.2(NFKBIA):c.40G>T:p.Glu14Ter	coding	Pathogenic
14	35404612	C	T	C35404612T	NFKBIA	NM_020529.2(NFKBIA):c.33G>A:p.Trp11Ter	coding	Pathogenic
14	35404613	C	T	C35404613T	NFKBIA	NM_020529.2(NFKBIA):c.32G>A:p.Trp11Ter	coding	Pathogenic
14	35404620	G	A	G35404620A	NFKBIA	NM_020529.2(NFKBIA):c.25C>T:p.Gln9Ter	coding	Pathogenic
14	35404685	C	T	C35404685T	NFKBIA	NM_020529.3(NFKBIA):c.-41G>A	noncoding	Benign
14	35404710	C	T	C35404710T	NFKBIA	NM_020529.2(NFKBIA):c.-66G>A	noncoding	Benign
14	35572678	G	C	G35572678C	RALGAPA1	NM_014990.3(RALGAPA1):c.5732C>G:p.Ser1911Ter	coding	Pathogenic
14	35605634	T	C	T35605634C	RALGAPA1	NM_014990.3(RALGAPA1):c.5487A>G:p.Thr1829=	coding	Benign
14	35674589	T	C	T35674589C	RALGAPA1	NM_014990.3(RALGAPA1):c.3227A>G:p.Asn1076Ser	coding	Pathogenic
14	35677991	T	C	T35677991C	RALGAPA1	NM_014990.3(RALGAPA1):c.3065A>G:p.Glu1022Gly	coding	Benign
14	35742494	T	C	T35742494C	RALGAPA1	NM_014990.3(RALGAPA1):c.1323A>G:p.Gln441=	coding	Benign
14	35748710	G	A	G35748710A	RALGAPA1	NM_014990.3(RALGAPA1):c.1126C>T:p.Arg376Ter	coding	Pathogenic
14	35756846	C	A	C35756846A	RALGAPA1	NM_014990.3(RALGAPA1):c.610G>T:p.Glu204Ter	coding	Pathogenic
14	35808794	G	A	G35808794A	RALGAPA1	NM_014990.3(RALGAPA1):c.42C>T:p.Thr14=	coding	Benign
14	36516699	G	C	G36516699C	NKX2-1	NM_001079668.3(NKX2-1):c.*579C>G	noncoding	Benign
14	36516842	T	G	T36516842G	NKX2-1	NM_001079668.3(NKX2-1):c.*436A>C	noncoding	Benign
14	36517068	A	T	A36517068T	NKX2-1	NM_001079668.3(NKX2-1):c.*210T>A	noncoding	Benign
14	36517069	A	T	A36517069T	NKX2-1	NM_001079668.3(NKX2-1):c.*209T>A	noncoding	Benign
14	36517099	A	G	A36517099G	NKX2-1	NM_001079668.3(NKX2-1):c.*179T>C	noncoding	Benign
14	36517278	T	G	T36517278G	NKX2-1	NM_001079668.3(NKX2-1):c.1206A>C:p.Ter402Cys	coding	Pathogenic
14	36517391	C	A	C36517391A	NKX2-1	NM_001079668.3(NKX2-1):c.1093G>T:p.Ala365Ser	coding	Benign/Likely_benign
14	36517578	C	G	C36517578G	NKX2-1	NM_001079668.3(NKX2-1):c.906G>C:p.Ala302=	coding	Benign
14	36517739	G	A	G36517739A	NKX2-1	NM_001079668.3(NKX2-1):c.745C>T:p.Gln249Ter	coding	Pathogenic
14	36517756	C	A	C36517756A	NKX2-1	NM_001079668.3(NKX2-1):c.728G>T:p.Arg243Leu	coding	Pathogenic
14	36517757	G	T	G36517757T	NKX2-1	NM_001079668.3(NKX2-1):c.727C>A:p.Arg243Ser	coding	Pathogenic
14	36517771	C	A	C36517771A	NKX2-1	NM_001079668.3(NKX2-1):c.713G>T:p.Trp238Leu	coding	Pathogenic
14	36517781	C	A	C36517781A	NKX2-1	NM_001079668.3(NKX2-1):c.703G>T:p.Val235Phe	coding	Pathogenic
14	36517820	C	A	C36517820A	NKX2-1	NM_001079668.3(NKX2-1):c.664G>T:p.Glu222Ter	coding	Pathogenic/Likely_pathogenic
14	36517833	C	T	C36517833T	NKX2-1	NM_001079668.3(NKX2-1):c.651G>A:p.Ser217=	coding	Benign
14	36517839	G	C	G36517839C	NKX2-1	NM_001079668.3(NKX2-1):c.645C>G:p.Tyr215Ter	coding	Pathogenic
14	36517847	G	A	G36517847A	NKX2-1	NM_001079668.3(NKX2-1):c.637C>T:p.Gln213Ter	coding	Pathogenic
14	36517867	A	T	A36517867T	NKX2-1	NM_001079668.3(NKX2-1):c.617T>A:p.Leu206Gln	coding	Pathogenic
14	36517871	C	A	C36517871A	NKX2-1	NM_001079668.3(NKX2-1):c.613G>T:p.Glu205Ter	coding	Pathogenic/Likely_pathogenic
14	36517888	G	T	G36517888T	NKX2-1	NM_001079668.3(NKX2-1):c.596C>A:p.Ser199Ter	coding	Pathogenic
14	36517949	C	A	C36517949A	NKX2-1	NM_001079668.3(NKX2-1):c.535G>T:p.Val179Leu	coding	Benign
14	36517960	G	T	G36517960T	NKX2-1	NM_001079668.3(NKX2-1):c.524C>A:p.Ser175Ter	coding	Pathogenic
14	36518022	T	A	T36518022A	NKX2-1	NM_001079668.3(NKX2-1):c.464-2A>T	noncoding	Benign
14	36518022	T	C	T36518022C	NKX2-1	NM_001079668.3(NKX2-1):c.464-2A>G	noncoding	Pathogenic
14	36519016	G	T	G36519016T	NKX2-1;SFTA3	NM_001079668.3(NKX2-1):c.432C>A:p.Tyr144Ter	coding	Pathogenic
14	36519247	C	G	C36519247G	NKX2-1	NM_001079668.3(NKX2-1):c.201G>C:p.Pro67=	coding	Benign/Likely_benign
14	36519258	G	T	G36519258T	NKX2-1	NM_001079668.3(NKX2-1):c.190C>A:p.Leu64Ile	coding	Benign/Likely_benign
14	36520101	C	T	C36520101T	NKX2-1	NM_001079668.3(NKX2-1):c.29G>A:p.Arg10Gln	coding	Benign/Likely_benign
14	36520129	T	A	T36520129A	NKX2-1	NM_001079668.3(NKX2-1):c.1A>T:p.Met1Leu	coding	Pathogenic
14	36520214	C	A	C36520214A	NKX2-1	NM_001079668.3(NKX2-1):c.-85G>T	noncoding	Benign
14	36582312	C	G	C36582312G	NKX2-8	NM_014360.4(NKX2-8):c.78G>C:p.Pro26=	coding	Benign
14	36582321	T	C	T36582321C	NKX2-8	NM_014360.4(NKX2-8):c.69A>G:p.Gln23=	coding	Benign
14	36657839	C	G	C36657839G	PAX9	NM_006194.3(PAX9):c.-455C>G	noncoding	Benign
14	36662092	G	A	G36662092A	PAX9	NM_006194.3(PAX9):c.3G>A:p.Met1Ile	coding	Pathogenic
14	36662951	C	T	C36662951T	PAX9	NM_006194.3(PAX9):c.59C>T:p.Pro20Leu	coding	Pathogenic
14	36662954	T	C	T36662954C	PAX9	NM_006194.3(PAX9):c.62T>C:p.Leu21Pro	coding	Pathogenic
14	36662968	C	T	C36662968T	PAX9	NM_006194.3(PAX9):c.76C>T:p.Arg26Trp	coding	Pathogenic
14	36662975	G	C	G36662975C	PAX9	NM_006194.3(PAX9):c.83G>C:p.Arg28Pro	coding	Pathogenic
14	36663031	C	T	C36663031T	PAX9	NM_006194.3(PAX9):c.139C>T:p.Arg47Trp	coding	Pathogenic
14	36663043	G	A	G36663043A	PAX9	NM_006194.3(PAX9):c.151G>A:p.Gly51Ser	coding	Pathogenic
14	36663072	C	A	C36663072A	PAX9	NM_006194.3(PAX9):c.180C>A:p.Tyr60Ter	coding	Pathogenic
14	36663228	C	G	C36663228G	PAX9	NM_006194.3(PAX9):c.336C>G:p.Cys112Trp	coding	Pathogenic
14	36663232	A	T	A36663232T	PAX9	NM_006194.3(PAX9):c.340A>T:p.Lys114Ter	coding	Pathogenic
14	36663408	G	A	G36663408A	PAX9	NM_006194.3(PAX9):c.516G>A:p.Lys172=	coding	Benign/Likely_benign
14	36663515	C	G	C36663515G	PAX9	NM_006194.3(PAX9):c.623C>G:p.Thr208Ser	coding	Benign/Likely_benign
14	36666547	C	T	C36666547T	PAX9	NM_006194.3(PAX9):c.717C>T:p.His239=	coding	Benign
14	36666548	G	C	G36666548C	PAX9	NM_006194.3(PAX9):c.718G>C:p.Ala240Pro	coding	Benign
14	36676658	T	C	T36676658C	PAX9	NM_006194.3(PAX9):c.*206T>C	noncoding	Benign
14	36676711	C	T	C36676711T	PAX9	NM_006194.3(PAX9):c.*259C>T	noncoding	Benign
14	36676881	T	C	T36676881C	PAX9	NM_006194.3(PAX9):c.*429T>C	noncoding	Benign
14	36677006	G	C	G36677006C	PAX9	NM_006194.3(PAX9):c.*554G>C	noncoding	Benign
14	36677270	C	T	C36677270T	PAX9	NM_006194.3(PAX9):c.*818C>T	noncoding	Benign
14	36677353	C	T	C36677353T	PAX9	NM_006194.3(PAX9):c.*901C>T	noncoding	Benign
14	36684834	T	C	T36684834C	SLC25A21	NM_030631.4(SLC25A21):c.695A>G:p.Lys232Arg	coding	Pathogenic
14	37591452	C	T	C37591452T	FOXA1	NM_004496.5(FOXA1):c.1332G>A:p.Val444=	coding	Benign
14	37591563	G	A	G37591563A	FOXA1	NM_004496.5(FOXA1):c.1221C>T:p.Ser407=	coding	Benign
14	38209797	G	A	G38209797A	SSTR1	NM_001049.3(SSTR1):c.408G>A:p.Val136=	coding	Benign
14	38254838	G	A	G38254838A	CLEC14A	NM_175060.3(CLEC14A):c.1185C>T:p.Ser395=	coding	Benign
14	38255200	T	C	T38255200C	CLEC14A	NM_175060.3(CLEC14A):c.823A>G:p.Thr275Ala	coding	Benign
14	39040770	T	C	T39040770C	SEC23A	NM_006364.4(SEC23A):c.2104A>G:p.Met702Val	coding	Pathogenic
14	39042882	A	G	A39042882G	SEC23A	NM_006364.4(SEC23A):c.1900-10T>C	noncoding	Benign
14	39067256	A	G	A39067256G	SEC23A	NM_006364.4(SEC23A):c.1144T>C:p.Phe382Leu	coding	Pathogenic
14	39074426	G	A	G39074426A	SEC23A	NM_006364.4(SEC23A):c.1092C>T:p.Pro364=	coding	Benign
14	39075995	A	G	A39075995G	SEC23A	NM_006364.4(SEC23A):c.927T>C:p.Pro309=	coding	Benign
14	39086981	G	C	G39086981C	SEC23A	NM_006364.4(SEC23A):c.631C>G:p.Leu211Val	coding	Benign
14	39158404	T	C	T39158404C	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.150-2A>G	noncoding	Pathogenic
14	39159508	G	A	G39159508A	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.124C>T:p.Arg42Ter	coding	Pathogenic
14	39176159	C	T	C39176159T	PNN	NM_002687.4(PNN):c.185+10C>T	noncoding	Benign
14	39179145	A	C	A39179145C	PNN	NM_002687.4(PNN):c.553A>C:p.Arg185=	coding	Benign
14	39181285	G	A	G39181285A	PNN	NM_002687.4(PNN):c.1576G>A:p.Glu526Lys	coding	Benign
14	39181581	C	T	C39181581T	PNN	NM_002687.4(PNN):c.1872C>T:p.Ser624=	coding	Benign
14	39267489	G	T	G39267489T	MIA2	NM_203354.3(MIA2):c.27+2068G>T	coding	Benign
14	39299939	A	G	A39299939G	MIA2	NM_203354.3(MIA2):c.712A>G:p.Lys238Glu	coding	Benign
14	39431808	G	A	G39431808A	FBXO33	NM_203301.3(FBXO33):c.355C>T:p.Pro119Ser	coding	Benign
14	44506715	G	A	G44506715A	FSCB	NM_032135.4(FSCB):c.273C>T:p.Thr91=	coding	Benign
14	44900633	A	G	A44900633G	C14orf28	NM_001017923.2(C14orf28):c.198A>G:p.Leu66=	coding	Benign
14	44903212	C	T	C44903212T	C14orf28	NM_001017923.2(C14orf28):c.530C>T:p.Pro177Leu	coding	Benign
14	44904481	C	T	C44904481T	C14orf28	NM_001017923.2(C14orf28):c.701C>T:p.Ser234Phe	coding	Benign
14	44905544	G	T	G44905544T	C14orf28	NM_001017923.2(C14orf28):c.927G>T:p.Glu309Asp	coding	Benign
14	44963505	C	T	C44963505T	TOGARAM1	NM_001308120.2(TOGARAM1):c.1084C>T:p.Gln362Ter	coding	Pathogenic
14	44963523	C	T	C44963523T	TOGARAM1	NM_001308120.2(TOGARAM1):c.1102C>T:p.Arg368Trp	coding	Pathogenic
14	44963533	C	A	C44963533A	TOGARAM1	NM_001308120.2(TOGARAM1):c.1112C>A:p.Ala371Asp	coding	Pathogenic
14	44963545	T	C	T44963545C	TOGARAM1	NM_001308120.2(TOGARAM1):c.1124T>C:p.Leu375Pro	coding	Pathogenic
14	45025792	C	A	C45025792A	TOGARAM1	NM_001308120.2(TOGARAM1):c.3248C>A:p.Ser1083Ter	coding	Pathogenic
14	45044647	C	T	C45044647T	TOGARAM1	NM_001308120.2(TOGARAM1):c.3931C>T:p.Arg1311Cys	coding	Pathogenic
14	45073421	C	T	C45073421T	TOGARAM1	NM_001308120.2(TOGARAM1):c.5182C>T:p.Arg1728Ter	coding	Pathogenic
14	45136061	G	A	G45136061A	FANCM	NM_020937.4(FANCM):c.30G>A:p.Gln10=	coding	Benign
14	45136260	A	G	A45136260G	FANCM	NM_020937.4(FANCM):c.229A>G:p.Thr77Ala	coding	Benign
14	45137084	C	T	C45137084T	FANCM	NM_020937.4(FANCM):c.524C>T:p.Ser175Phe	coding	Benign
14	45137087	C	T	C45137087T	FANCM	NM_020937.4(FANCM):c.527C>T:p.Thr176Ile	coding	Benign
14	45137184	A	G	A45137184G	FANCM	NM_020937.4(FANCM):c.624A>G:p.Ile208Met	coding	Benign
14	45137239	C	T	C45137239T	FANCM	NM_020937.4(FANCM):c.679C>T:p.Gln227Ter	coding	Pathogenic
14	45151468	A	G	A45151468G	FANCM	NM_020937.4(FANCM):c.990A>G:p.Thr330=	coding	Benign
14	45151518	C	T	C45151518T	FANCM	NM_020937.4(FANCM):c.1040C>T:p.Pro347Leu	coding	Benign
14	45151519	G	A	G45151519A	FANCM	NM_020937.4(FANCM):c.1041G>A:p.Pro347=	coding	Benign/Likely_benign
14	45154011	C	A	C45154011A	FANCM	NM_020937.4(FANCM):c.1142C>A:p.Ser381Ter	coding	Pathogenic
14	45154060	A	G	A45154060G	FANCM	NM_020937.4(FANCM):c.1183+8A>G	noncoding	Benign
14	45154709	C	G	C45154709G	FANCM	NM_020937.4(FANCM):c.1196C>G:p.Ser399Ter	coding	Pathogenic
14	45159131	C	T	C45159131T	FANCM	NM_020937.4(FANCM):c.1432C>T:p.Arg478Ter	coding	Pathogenic
14	45159155	C	T	C45159155T	FANCM	NM_020937.4(FANCM):c.1456C>T:p.Arg486Ter	coding	Pathogenic
14	45164368	C	T	C45164368T	FANCM	NM_020937.4(FANCM):c.1591C>T:p.Gln531Ter	coding	Pathogenic
14	45164554	C	T	C45164554T	FANCM	NM_020937.4(FANCM):c.1777C>T:p.Arg593Ter	coding	Pathogenic
14	45166959	C	T	C45166959T	FANCM	NM_020937.4(FANCM):c.1798C>T:p.Gln600Ter	coding	Pathogenic
14	45167040	C	T	C45167040T	FANCM	NM_020937.4(FANCM):c.1879C>T:p.Arg627Ter	coding	Pathogenic
14	45167125	A	G	A45167125G	FANCM	NM_020937.4(FANCM):c.1964A>G:p.Asn655Ser	coding	Benign
14	45167133	C	T	C45167133T	FANCM	NM_020937.4(FANCM):c.1972C>T:p.Arg658Ter	coding	Pathogenic/Likely_pathogenic
14	45173084	A	G	A45173084G	FANCM	NM_020937.4(FANCM):c.2190A>G:p.Gln730=	coding	Benign
14	45175098	G	T	G45175098T	FANCM	NM_020937.4(FANCM):c.2344G>T:p.Glu782Ter	coding	Pathogenic
14	45175199	G	A	G45175199A	FANCM	NM_020937.4(FANCM):c.2445G>A:p.Ser815=	coding	Benign
14	45175332	G	T	G45175332T	FANCM	NM_020937.4(FANCM):c.2578G>T:p.Glu860Ter	coding	Pathogenic
14	45175386	G	T	G45175386T	FANCM	NM_020937.4(FANCM):c.2632G>T:p.Val878Leu	coding	Benign
14	45175424	T	C	T45175424C	FANCM	NM_020937.4(FANCM):c.2670T>C:p.Phe890=	coding	Benign
14	45175503	A	G	A45175503G	FANCM	NM_020937.4(FANCM):c.2749A>G:p.Ile917Val	coding	Benign/Likely_benign
14	45175794	G	T	G45175794T	FANCM	NM_020937.4(FANCM):c.3040G>T:p.Gly1014Cys	coding	Benign/Likely_benign
14	45175902	G	T	G45175902T	FANCM	NM_020937.4(FANCM):c.3148G>T:p.Glu1050Ter	coding	Pathogenic
14	45176035	T	G	T45176035G	FANCM	NM_020937.4(FANCM):c.3281T>G:p.Leu1094Ter	coding	Pathogenic
14	45176301	T	C	T45176301C	FANCM	NM_020937.4(FANCM):c.3547T>C:p.Leu1183=	coding	Benign
14	45176512	A	G	A45176512G	FANCM	NM_020937.4(FANCM):c.3758A>G:p.Asn1253Ser	coding	Benign
14	45176586	C	T	C45176586T	FANCM	NM_020937.4(FANCM):c.3832C>T:p.Gln1278Ter	coding	Pathogenic
14	45176617	A	G	A45176617G	FANCM	NM_020937.4(FANCM):c.3863A>G:p.Asn1288Ser	coding	Benign/Likely_benign
14	45176674	A	G	A45176674G	FANCM	NM_020937.4(FANCM):c.3920A>G:p.Tyr1307Cys	coding	Benign
14	45176983	T	G	T45176983G	FANCM	NM_020937.4(FANCM):c.4222+7T>G	noncoding	Benign
14	45181467	C	T	C45181467T	FANCM	NM_020937.4(FANCM):c.4260C>T:p.Asp1420=	coding	Benign
14	45181697	A	G	A45181697G	FANCM	NM_020937.4(FANCM):c.4378A>G:p.Ile1460Val	coding	Benign
14	45183764	A	G	A45183764G	FANCM	NM_020937.4(FANCM):c.4387-10A>G	noncoding	Pathogenic
14	45183775	C	G	C45183775G	FANCM	NM_020937.4(FANCM):c.4388C>G:p.Ser1463Ter	coding	Pathogenic
14	45185264	A	C	A45185264C	FANCM	NM_020937.4(FANCM):c.4563A>C:p.Glu1521Asp	coding	Benign
14	45185302	C	A	C45185302A	FANCM	NM_020937.4(FANCM):c.4601C>A:p.Ser1534Ter	coding	Pathogenic
14	45188821	C	T	C45188821T	FANCM	NM_020937.4(FANCM):c.4799C>T:p.Thr1600Ile	coding	Benign
14	45188953	G	A	G45188953A	FANCM	NM_020937.4(FANCM):c.4931G>A:p.Arg1644Gln	coding	Benign/Likely_benign
14	45189123	C	T	C45189123T	FANCM	NM_020937.4(FANCM):c.5101C>T:p.Gln1701Ter	coding	Pathogenic/Likely_pathogenic
14	45189164	G	A	G45189164A	FANCM	NM_020937.4(FANCM):c.5142G>A:p.Ala1714=	coding	Benign
14	45189212	G	A	G45189212A	FANCM	NM_020937.4(FANCM):c.5190G>A:p.Gln1730=	coding	Benign/Likely_benign
14	45189246	A	G	A45189246G	FANCM	NM_020937.4(FANCM):c.5224A>G:p.Ile1742Val	coding	Benign/Likely_benign
14	45196265	C	G	C45196265G	FANCM	NM_020937.4(FANCM):c.5434C>G:p.Pro1812Ala	coding	Benign
14	45196408	T	C	T45196408C	FANCM	NM_020937.4(FANCM):c.5577T>C:p.Asn1859=	coding	Benign
14	45196458	A	G	A45196458G	FANCM	NM_020937.4(FANCM):c.5627A>G:p.Asn1876Ser	coding	Benign
14	45196478	C	T	C45196478T	FANCM	NM_020937.4(FANCM):c.5647C>T:p.Gln1883Ter	coding	Pathogenic
14	45196487	C	T	C45196487T	FANCM	NM_020937.4(FANCM):c.5656C>T:p.His1886Tyr	coding	Benign/Likely_benign
14	45198718	C	T	C45198718T	FANCM	NM_020937.4(FANCM):c.5791C>T:p.Arg1931Ter	coding	Pathogenic
14	45198735	C	T	C45198735T	FANCM	NM_020937.4(FANCM):c.5808C>T:p.Ser1936=	coding	Benign
14	45200002	T	C	T45200002C	FANCM	NM_020937.4(FANCM):c.6141T>C:p.Asp2047=	coding	Benign
14	45204457	T	A	T45204457A	MIS18BP1	NM_018353.5(MIS18BP1):c.3241-4A>T	noncoding	Benign
14	45224046	A	G	A45224046G	MIS18BP1	NM_018353.5(MIS18BP1):c.2541T>C:p.Gly847=	coding	Benign
14	45224047	C	A	C45224047A	MIS18BP1	NM_018353.5(MIS18BP1):c.2540G>T:p.Gly847Val	coding	Benign
14	45224402	A	G	A45224402G	MIS18BP1	NM_018353.5(MIS18BP1):c.2185T>C:p.Ser729Pro	coding	Benign
14	45227710	C	T	C45227710T	MIS18BP1	NM_018353.5(MIS18BP1):c.1699G>A:p.Val567Ile	coding	Benign
14	45227756	G	A	G45227756A	MIS18BP1	NM_018353.5(MIS18BP1):c.1653C>T:p.His551=	coding	Benign
14	45231149	T	C	T45231149C	MIS18BP1	NM_018353.5(MIS18BP1):c.1586A>G:p.Asp529Gly	coding	Benign
14	45242785	C	T	C45242785T	MIS18BP1	NM_018353.5(MIS18BP1):c.634G>A:p.Ala212Thr	coding	Benign
14	45246797	A	G	A45246797G	MIS18BP1	NM_018353.5(MIS18BP1):c.490T>C:p.Cys164Arg	coding	Benign
14	46957483	C	G	C46957483G	MDGA2	NM_001113498.2(MDGA2):c.1773G>C:p.Gln591His	coding	Benign
14	47096942	G	A	G47096942A	MDGA2	NM_001113498.2(MDGA2):c.900C>T:p.Ile300=	coding	Benign
14	47131743	A	G	A47131743G	MDGA2	NM_001113498.2(MDGA2):c.689T>C:p.Met230Thr	coding	Benign
14	49586021	T	A	T49586021A	RPS29	NM_001030001.4(RPS29):c.91A>T:p.Ile31Phe	coding	Pathogenic
14	49620918	G	T	G49620918T	MGAT2;DNAAF2	NM_002408.4(MGAT2):c.-351G>T	noncoding	Benign/Likely_benign
14	49621035	T	C	T49621035C	MGAT2;DNAAF2	NM_002408.4(MGAT2):c.-234T>C	noncoding	Benign
14	49621359	C	T	C49621359T	MGAT2	NM_002408.4(MGAT2):c.91C>T:p.Gln31Ter	coding	Pathogenic
14	49621529	G	T	G49621529T	MGAT2;DNAAF2	NM_002408.4(MGAT2):c.261G>T:p.Leu87=	coding	Benign/Likely_benign
14	49621628	G	A	G49621628A	MGAT2	NM_002408.4(MGAT2):c.360G>A:p.Leu120=	coding	Benign
14	49621877	T	C	T49621877C	MGAT2	NM_002408.4(MGAT2):c.609T>C:p.Asn203=	coding	Benign/Likely_benign
14	49621979	G	C	G49621979C	MGAT2	NM_002408.4(MGAT2):c.711G>C:p.Lys237Asn	coding	Pathogenic/Likely_pathogenic
14	49622036	T	G	T49622036G	MGAT2	NM_002408.4(MGAT2):c.768T>G:p.Leu256=	coding	Benign/Likely_benign
14	49622053	A	G	A49622053G	MGAT2	NM_002408.4(MGAT2):c.785A>G:p.His262Arg	coding	Pathogenic
14	49622067	G	C	G49622067C	MGAT2	NM_002408.4(MGAT2):c.799G>C:p.Asp267His	coding	Pathogenic
14	49622137	C	T	C49622137T	MGAT2	NM_002408.3(MGAT2):c.869C>T:p.Ser290Phe	coding	Pathogenic
14	49622220	A	G	A49622220G	MGAT2	NM_002408.4(MGAT2):c.952A>G:p.Asn318Asp	coding	Pathogenic
14	49622285	T	A	T49622285A	MGAT2	NM_002408.4(MGAT2):c.1017T>A:p.Cys339Ter	coding	Pathogenic
14	49622388	C	T	C49622388T	MGAT2	NM_002408.4(MGAT2):c.1120C>T:p.His374Tyr	coding	Pathogenic
14	49622840	A	G	A49622840G	MGAT2	NM_002408.4(MGAT2):c.*228A>G	noncoding	Benign
14	49625214	T	A	T49625214A	MGAT2;DNAAF2	NM_018139.2(DNAAF2):c.*328A>T	noncoding	Benign
14	49625416	A	T	A49625416T	MGAT2;DNAAF2	NM_018139.2(DNAAF2):c.*126T>A	noncoding	Benign
14	49625753	T	C	T49625753C	MGAT2;DNAAF2	NM_018139.2(DNAAF2):c.2303A>G:p.Asp768Gly	coding	Benign
14	49625869	T	C	T49625869C	DNAAF2	NM_018139.2(DNAAF2):c.2187A>G:p.Gln729=	coding	Benign
14	49625880	T	C	T49625880C	DNAAF2	NM_018139.2(DNAAF2):c.2176A>G:p.Thr726Ala	coding	Benign/Likely_benign
14	49628195	C	A	C49628195A	DNAAF2	NM_018139.2(DNAAF2):c.1864-40G>T	noncoding	Benign
14	49633271	T	C	T49633271C	DNAAF2	NM_018139.2(DNAAF2):c.1863+16A>G	noncoding	Benign
14	49633299	G	A	G49633299A	DNAAF2	NM_018139.2(DNAAF2):c.1851C>T:p.Asn617=	coding	Benign/Likely_benign
14	49633524	C	G	C49633524G	DNAAF2	NM_018139.2(DNAAF2):c.1626G>C:p.Arg542=	coding	Benign/Likely_benign
14	49633668	T	C	T49633668C	DNAAF2	NM_018139.2(DNAAF2):c.1482A>G:p.Thr494=	coding	Benign
14	49633744	C	T	C49633744T	DNAAF2	NM_018139.2(DNAAF2):c.1406G>A:p.Cys469Tyr	coding	Benign/Likely_benign
14	49633783	G	A	G49633783A	DNAAF2	NM_018139.2(DNAAF2):c.1367C>T:p.Pro456Leu	coding	Benign/Likely_benign
14	49633965	C	G	C49633965G	DNAAF2	NM_018139.2(DNAAF2):c.1185G>C:p.Ala395=	coding	Benign
14	49634073	G	C	G49634073C	DNAAF2	NM_018139.2(DNAAF2):c.1077C>G:p.Val359=	coding	Benign
14	49634346	G	C	G49634346C	DNAAF2	NM_018139.2(DNAAF2):c.804C>G:p.Tyr268Ter	coding	Pathogenic
14	49634422	T	G	T49634422G	DNAAF2	NM_018139.2(DNAAF2):c.728A>C:p.Glu243Ala	coding	Benign/Likely_benign
14	49634443	G	A	G49634443A	DNAAF2	NM_018139.2(DNAAF2):c.707C>T:p.Pro236Leu	coding	Benign
14	49634589	G	A	G49634589A	DNAAF2	NM_018139.2(DNAAF2):c.561C>T:p.Thr187=	coding	Benign/Likely_benign
14	49634652	G	A	G49634652A	DNAAF2	NM_018139.2(DNAAF2):c.498C>T:p.Ala166=	coding	Benign
14	49634666	G	A	G49634666A	DNAAF2	NM_018139.2(DNAAF2):c.484C>T:p.Gln162Ter	coding	Pathogenic
14	49634762	C	A	C49634762A	DNAAF2	NM_018139.2(DNAAF2):c.388G>T:p.Glu130Ter	coding	Pathogenic
14	49634964	C	G	C49634964G	DNAAF2	NM_018139.2(DNAAF2):c.186G>C:p.Glu62Asp	coding	Benign
14	49635006	G	T	G49635006T	DNAAF2	NM_018139.2(DNAAF2):c.144C>A:p.Asn48Lys	coding	Benign
14	49635021	G	A	G49635021A	DNAAF2	NM_018139.2(DNAAF2):c.129C>T:p.Leu43=	coding	Benign/Likely_benign
14	49635072	G	A	G49635072A	DNAAF2	NM_018139.2(DNAAF2):c.78C>T:p.Ala26=	coding	Benign
14	49635127	G	T	G49635127T	DNAAF2	NM_018139.2(DNAAF2):c.23C>A:p.Ser8Ter	coding	Pathogenic
14	49635228	G	A	G49635228A	DNAAF2	NM_018139.2(DNAAF2):c.-79C>T	noncoding	Benign
14	49650348	A	G	A49650348G	POLE2	NM_002692.4(POLE2):c.1414T>C:p.Tyr472His	coding	Benign
14	49654814	A	G	A49654814G	POLE2	NM_002692.4(POLE2):c.1043T>C:p.Ile348Thr	coding	Benign
14	49666342	C	T	C49666342T	POLE2	NM_002692.4(POLE2):c.564G>A:p.Thr188=	coding	Benign
14	49679806	A	G	A49679806G	POLE2	NM_002692.4(POLE2):c.170-6T>C	noncoding	Benign
14	49784952	T	C	T49784952C	NEMF	NM_004713.6(NEMF):c.3126A>G:p.Arg1042=	coding	Benign
14	49795802	G	A	G49795802A	NEMF	NM_004713.6(NEMF):c.2608C>T:p.Arg870Ter	coding	Pathogenic
14	49802534	T	A	T49802534A	NEMF	NM_004713.6(NEMF):c.2014A>T:p.Lys672Ter	coding	Pathogenic
14	49802537	G	A	G49802537A	NEMF	NM_004713.6(NEMF):c.2011C>T:p.Arg671Ter	coding	Pathogenic
14	49834424	G	A	G49834424A	NEMF	NM_004713.6(NEMF):c.600C>T:p.His200=	coding	Benign
14	49851569	G	C	G49851569C	NEMF	NM_004713.6(NEMF):c.225C>G:p.Ala75=	coding	Benign
14	49852753	T	A	T49852753A	NEMF	NM_004713.6(NEMF):c.1A>T:p.Met1Leu	coding	Pathogenic
14	49893787	C	T	C49893787T	ARF6	NM_001663.4(ARF6):c.51C>T:p.Leu17=	coding	Benign
14	49893955	C	T	C49893955T	ARF6	NM_001663.4(ARF6):c.219C>T:p.Leu73=	coding	Benign
14	50118530	C	T	C50118530T	SOS2	NM_006939.4(SOS2):c.3813G>A:p.Pro1271=	coding	Benign
14	50118599	C	A	C50118599A	SOS2	NM_006939.4(SOS2):c.3744G>T:p.Trp1248Cys	coding	Benign/Likely_benign
14	50118871	T	G	T50118871G	SOS2	NM_006939.4(SOS2):c.3490-18A>C	noncoding	Benign
14	50119147	A	G	A50119147G	SOS2	NM_006939.4(SOS2):c.3490-294T>C	noncoding	Benign
14	50120256	G	A	G50120256A	SOS2	NM_006939.4(SOS2):c.3489+19C>T	noncoding	Benign
14	50120623	T	C	T50120623C	SOS2	NM_006939.4(SOS2):c.3380-239A>G	noncoding	Benign
14	50130144	T	C	T50130144C	SOS2	NM_006939.4(SOS2):c.3338-142A>G	noncoding	Benign
14	50130294	T	C	T50130294C	SOS2	NM_006939.4(SOS2):c.3337+207A>G	noncoding	Benign
14	50134116	G	A	G50134116A	SOS2	NM_006939.4(SOS2):c.3075+7C>T	noncoding	Benign
14	50134132	T	C	T50134132C	SOS2	NM_006939.4(SOS2):c.3066A>G:p.Pro1022=	coding	Benign
14	50134259	A	G	A50134259G	SOS2	NM_006939.4(SOS2):c.2959-20T>C	noncoding	Benign
14	50134277	A	T	A50134277T	SOS2	NM_006939.4(SOS2):c.2959-38T>A	noncoding	Benign
14	50134360	C	T	C50134360T	SOS2	NM_006939.4(SOS2):c.2959-121G>A	noncoding	Benign
14	50139666	A	G	A50139666G	SOS2	NM_006939.4(SOS2):c.2785+276T>C	noncoding	Benign
14	50139716	T	C	T50139716C	SOS2	NM_006939.4(SOS2):c.2785+226A>G	noncoding	Benign
14	50139898	A	G	A50139898G	SOS2	NM_006939.4(SOS2):c.2785+44T>C	noncoding	Benign
14	50140015	T	C	T50140015C	SOS2	NM_006939.4(SOS2):c.2712A>G:p.Glu904=	coding	Benign/Likely_benign
14	50140063	A	G	A50140063G	SOS2	NM_006939.4(SOS2):c.2668-4T>C	noncoding	Benign
14	50140072	A	G	A50140072G	SOS2	NM_006939.4(SOS2):c.2668-13T>C	noncoding	Benign
14	50140179	A	G	A50140179G	SOS2	NM_006939.4(SOS2):c.2668-120T>C	noncoding	Benign
14	50145127	C	T	C50145127T	SOS2	NM_006939.4(SOS2):c.2667+43G>A	noncoding	Benign
14	50145212	T	A	T50145212A	SOS2	NM_006939.4(SOS2):c.2625A>T:p.Ala875=	coding	Benign
14	50145232	C	T	C50145232T	SOS2	NM_006939.4(SOS2):c.2605G>A:p.Val869Ile	coding	Benign
14	50145317	T	C	T50145317C	SOS2	NM_006939.4(SOS2):c.2520A>G:p.Ala840=	coding	Benign
14	50145683	T	C	T50145683C	SOS2	NM_006939.4(SOS2):c.2385-87A>G	noncoding	Benign
14	50145696	C	T	C50145696T	SOS2	NM_006939.4(SOS2):c.2385-100G>A	noncoding	Benign
14	50145739	C	T	C50145739T	SOS2	NM_006939.4(SOS2):c.2385-143G>A	noncoding	Benign
14	50150160	G	A	G50150160A	SOS2	NM_006939.4(SOS2):c.2232C>T:p.Asn744=	coding	Benign
14	50150234	G	T	G50150234T	SOS2	NM_006939.4(SOS2):c.2162-4C>A	noncoding	Benign
14	50150240	G	A	G50150240A	SOS2	NM_006939.4(SOS2):c.2162-10C>T	noncoding	Benign/Likely_benign
14	50153209	A	G	A50153209G	SOS2	NM_006939.4(SOS2):c.2058-36T>C	noncoding	Benign
14	50153244	C	T	C50153244T	SOS2	NM_006939.4(SOS2):c.2058-71G>A	noncoding	Benign
14	50156726	C	T	C50156726T	SOS2	NM_006939.4(SOS2):c.2057+273G>A	noncoding	Benign
14	50156980	A	T	A50156980T	SOS2	NM_006939.4(SOS2):c.2057+19T>A	noncoding	Benign/Likely_benign
14	50157042	G	T	G50157042T	SOS2	NM_006939.4(SOS2):c.2014C>A:p.Leu672Ile	coding	Benign/Likely_benign
14	50157046	T	C	T50157046C	SOS2	NM_006939.4(SOS2):c.2010A>G:p.Ala670=	coding	Benign
14	50159257	T	C	T50159257C	SOS2	NM_006939.4(SOS2):c.1852+174A>G	noncoding	Benign
14	50159674	C	A	C50159674A	SOS2	NM_006939.4(SOS2):c.1609G>T:p.Ala537Ser	coding	Benign
14	50159835	C	T	C50159835T	SOS2	NM_006939.4(SOS2):c.1448G>A:p.Ser483Asn	coding	Benign
14	50159939	C	T	C50159939T	SOS2	NM_006939.4(SOS2):c.1344G>A:p.Leu448=	coding	Benign
14	50160020	A	G	A50160020G	SOS2	NM_006939.4(SOS2):c.1263T>C:p.Asn421=	coding	Benign
14	50160118	C	T	C50160118T	SOS2	NM_006939.4(SOS2):c.1197-32G>A	noncoding	Benign
14	50161551	G	C	G50161551C	SOS2	NM_006939.4(SOS2):c.1127C>G:p.Thr376Ser	coding	Pathogenic
14	50161763	C	A	C50161763A	SOS2	NM_006939.4(SOS2):c.1069-154G>T	noncoding	Benign
14	50174348	A	G	A50174348G	SOS2	NM_006939.4(SOS2):c.1068+106T>C	noncoding	Benign
14	50174571	T	C	T50174571C	SOS2	NM_006939.4(SOS2):c.970-19A>G	noncoding	Benign
14	50174629	T	G	T50174629G	SOS2	NM_006939.4(SOS2):c.970-77A>C	noncoding	Benign
14	50174659	A	G	A50174659G	SOS2	NM_006939.4(SOS2):c.970-107T>C	noncoding	Benign
14	50174746	G	C	G50174746C	SOS2	NM_006939.4(SOS2):c.970-194C>G	noncoding	Benign
14	50182370	C	T	C50182370T	SOS2	NM_006939.4(SOS2):c.858+93G>A	noncoding	Benign
14	50182454	T	C	T50182454C	SOS2	NM_006939.4(SOS2):c.858+9A>G	noncoding	Benign
14	50182505	A	G	A50182505G	SOS2	NM_006939.4(SOS2):c.816T>C:p.Ser272=	coding	Benign
14	50182521	A	C	A50182521C	SOS2	NM_006939.4(SOS2):c.800T>G:p.Met267Arg	coding	Pathogenic/Likely_pathogenic
14	50182521	A	G	A50182521G	SOS2	NM_006939.4(SOS2):c.800T>C:p.Met267Thr	coding	Pathogenic
14	50182521	A	T	A50182521T	SOS2	NM_006939.4(SOS2):c.800T>A:p.Met267Lys	coding	Pathogenic
14	50182530	G	C	G50182530C	SOS2	NM_006939.4(SOS2):c.791C>G:p.Thr264Arg	coding	Pathogenic
14	50182530	G	T	G50182530T	SOS2	NM_006939.4(SOS2):c.791C>A:p.Thr264Lys	coding	Pathogenic
14	50182601	G	A	G50182601A	SOS2	NM_006939.4(SOS2):c.720C>T:p.Ile240=	coding	Benign
14	50188203	G	A	G50188203A	SOS2	NM_006939.4(SOS2):c.714+294C>T	noncoding	Benign
14	50188231	C	T	C50188231T	SOS2	NM_006939.4(SOS2):c.714+266G>A	noncoding	Benign
14	50188511	G	A	G50188511A	SOS2	NM_006939.4(SOS2):c.700C>T:p.Leu234=	coding	Benign
14	50188589	C	T	C50188589T	SOS2	NM_006939.4(SOS2):c.622G>A:p.Ala208Thr	coding	Benign
14	50188590	G	A	G50188590A	SOS2	NM_006939.4(SOS2):c.621C>T:p.Ile207=	coding	Benign
14	50188620	T	C	T50188620C	SOS2	NM_006939.4(SOS2):c.591A>G:p.Leu197=	coding	Benign
14	50188639	G	C	G50188639C	SOS2	NM_006939.4(SOS2):c.572C>G:p.Pro191Arg	coding	Benign/Likely_benign
14	50188662	C	G	C50188662G	SOS2	NM_006939.4(SOS2):c.549G>C:p.Leu183Phe	coding	Benign/Likely_benign
14	50199545	C	T	C50199545T	SOS2	NM_006939.4(SOS2):c.510+146G>A	noncoding	Benign
14	50199865	G	C	G50199865C	SOS2	NM_006939.4(SOS2):c.346-10C>G	noncoding	Benign
14	50200808	G	A	G50200808A	SOS2	NM_006939.4(SOS2):c.345+145C>T	noncoding	Benign
14	50200983	C	A	C50200983A	SOS2	NM_006939.4(SOS2):c.315G>T:p.Leu105=	coding	Benign
14	50201004	T	C	T50201004C	SOS2	NM_006939.4(SOS2):c.294A>G:p.Lys98=	coding	Benign/Likely_benign
14	50204247	G	C	G50204247C	SOS2	NM_006939.4(SOS2):c.213+37C>G	noncoding	Benign
14	50204266	T	A	T50204266A	SOS2	NM_006939.4(SOS2):c.213+18A>T	noncoding	Benign
14	50204415	A	G	A50204415G	SOS2	NM_006939.4(SOS2):c.88-6T>C	noncoding	Benign
14	50231160	C	T	C50231160T	SOS2	NM_006939.4(SOS2):c.87+37G>A	noncoding	Benign
14	50231287	C	T	C50231287T	SOS2	NM_006939.4(SOS2):c.-4G>A	noncoding	Benign
14	50247097	T	C	T50247097C	L2HGDH	NM_024884.3(L2HGDH):c.1353A>G:p.Gly451=	coding	Benign
14	50265454	T	C	T50265454C	L2HGDH	NM_024884.3(L2HGDH):c.1100A>G:p.Tyr367Cys	coding	Benign
14	50267814	G	A	G50267814A	L2HGDH	NM_024884.3(L2HGDH):c.1003C>T:p.Arg335Ter	coding	Pathogenic
14	50269162	C	A	C50269162A	L2HGDH	NM_024884.3(L2HGDH):c.906+1G>T	noncoding	Pathogenic
14	50269164	G	A	G50269164A	L2HGDH	NM_024884.3(L2HGDH):c.905C>T:p.Pro302Leu	coding	Pathogenic
14	50269229	T	C	T50269229C	L2HGDH	NM_024884.3(L2HGDH):c.840A>G:p.Pro280=	coding	Benign/Likely_benign
14	50269240	G	A	G50269240A	L2HGDH	NM_024884.3(L2HGDH):c.829C>T:p.Arg277Ter	coding	Pathogenic
14	50278549	G	A	G50278549A	L2HGDH	NM_024884.3(L2HGDH):c.709C>T:p.Gln237Ter	coding	Pathogenic
14	50283927	T	C	T50283927C	L2HGDH	NM_024884.3(L2HGDH):c.647A>G:p.Asn216Ser	coding	Benign
14	50294127	C	A	C50294127A	L2HGDH	NM_024884.3(L2HGDH):c.528G>T:p.Glu176Asp	coding	Pathogenic
14	50294145	C	T	C50294145T	L2HGDH	NM_024884.3(L2HGDH):c.510G>A:p.Glu170=	coding	Benign
14	50302089	T	C	T50302089C	L2HGDH	NM_024884.3(L2HGDH):c.336A>G:p.Leu112=	coding	Benign
14	50302901	C	T	C50302901T	L2HGDH	NM_024884.3(L2HGDH):c.256+1G>A	noncoding	Pathogenic
14	50302950	G	A	G50302950A	L2HGDH	NM_024884.3(L2HGDH):c.208C>T:p.Arg70Ter	coding	Pathogenic
14	50302994	C	T	C50302994T	L2HGDH	NM_024884.3(L2HGDH):c.164G>A:p.Gly55Asp	coding	Pathogenic
14	50302999	G	A	G50302999A	L2HGDH	NM_024884.3(L2HGDH):c.159C>T:p.Ile53=	coding	Benign/Likely_benign
14	50312052	C	A	C50312052A	L2HGDH	NM_024884.3(L2HGDH):c.99G>T:p.Arg33Ser	coding	Benign/Likely_benign
14	50312098	A	C	A50312098C	L2HGDH	NM_024884.3(L2HGDH):c.53T>G:p.Leu18Arg	coding	Benign/Likely_benign
14	50312145	C	A	C50312145A	L2HGDH	NM_024884.3(L2HGDH):c.6G>T:p.Val2=	coding	Benign/Likely_benign
14	50429232	T	C	T50429232C	MAP4K5	NM_006575.5(MAP4K5):c.2193A>G:p.Val731=	coding	Benign
14	50533422	A	T	A50533422T	ATL1	NM_001127713.1(ATL1):c.-140+55A>T	noncoding	Benign
14	50533427	G	A	G50533427A	ATL1	NM_001127713.1(ATL1):c.-140+60G>A	noncoding	Benign
14	50560295	T	C	T50560295C	ATL1	NM_001127713.1(ATL1):c.30T>C:p.Ser10=	coding	Benign
14	50587817	G	A	G50587817A	ATL1	NM_001127713.1(ATL1):c.35-14G>A	noncoding	Benign
14	50587880	A	G	A50587880G	ATL1	NM_001127713.1(ATL1):c.84A>G:p.Pro28=	coding	Benign
14	50587886	A	G	A50587886G	ATL1	NM_015915.5(ATL1):c.90A>G:p.Lys30=	coding	Benign
14	50587925	C	G	C50587925G	ATL1	NM_001127713.1(ATL1):c.129C>G:p.Asp43Glu	coding	Benign
14	50591009	G	A	G50591009A	ATL1	NM_001127713.1(ATL1):c.351G>A:p.Glu117=	coding	Benign
14	50591010	C	T	C50591010T	ATL1	NM_015915.5(ATL1):c.352C>T:p.Arg118Ter	coding	Pathogenic
14	50591066	T	C	T50591066C	ATL1	NM_001127713.1(ATL1):c.408T>C:p.Asp136=	coding	Benign
14	50591078	A	G	A50591078G	ATL1	NM_001127713.1(ATL1):c.417+3A>G	noncoding	Benign
14	50591584	C	T	C50591584T	ATL1	NM_001127713.1(ATL1):c.467C>T:p.Thr156Ile	coding	Pathogenic
14	50591587	T	G	T50591587G	ATL1	NM_001127713.1(ATL1):c.470T>G:p.Leu157Trp	coding	Pathogenic
14	50591605	T	C	T50591605C	ATL1	NM_015915.5(ATL1):c.488T>C:p.Val163Ala	coding	Pathogenic
14	50591793	G	A	G50591793A	ATL1	NM_001127713.1(ATL1):c.522+154G>A	noncoding	Benign
14	50593734	A	G	A50593734G	ATL1	NM_001127713.1(ATL1):c.523-112A>G	noncoding	Benign
14	50593893	C	G	C50593893G	ATL1	NM_001127713.1(ATL1):c.570C>G:p.Leu190=	coding	Benign
14	50595444	G	A	G50595444A	ATL1	NM_001127713.1(ATL1):c.574-132G>A	noncoding	Benign
14	50595580	T	G	T50595580G	ATL1	NM_001127713.1(ATL1):c.578T>G:p.Phe193Cys	coding	Benign
14	50595598	T	A	T50595598A	ATL1	NM_015915.5(ATL1):c.596T>A:p.Leu199Gln	coding	Pathogenic
14	50595623	G	A	G50595623A	ATL1	NM_001127713.1(ATL1):c.621G>A:p.Lys207=	coding	Benign
14	50595639	G	A	G50595639A	ATL1	NM_001127713.1(ATL1):c.630+7G>A	noncoding	Benign
14	50595737	G	A	G50595737A	ATL1	NM_001127713.1(ATL1):c.630+105G>A	noncoding	Benign
14	50613278	G	A	G50613278A	ATL1	NM_001127713.1(ATL1):c.650G>A:p.Arg217Gln	coding	Pathogenic
14	50613297	C	T	C50613297T	ATL1	NM_001127713.1(ATL1):c.669C>T:p.Tyr223=	coding	Benign/Likely_benign
14	50613321	T	C	T50613321C	ATL1	NM_001127713.1(ATL1):c.693T>C:p.Gly231=	coding	Benign
14	50613333	C	T	C50613333T	ATL1	NM_001127713.1(ATL1):c.705C>T:p.Phe235=	coding	Benign
14	50613343	C	T	C50613343T	ATL1	NM_001127713.1(ATL1):c.715C>T:p.Arg239Cys	coding	Pathogenic/Likely_pathogenic
14	50614406	G	A	G50614406A	ATL1	NM_001127713.1(ATL1):c.757G>A:p.Val253Ile	coding	Pathogenic/Likely_pathogenic
14	50614422	A	G	A50614422G	ATL1	NM_001127713.1(ATL1):c.773A>G:p.His258Arg	coding	Pathogenic
14	50614425	C	A	C50614425A	ATL1	NM_001127713.1(ATL1):c.776C>A:p.Ser259Tyr	coding	Pathogenic
14	50614425	C	T	C50614425T	ATL1	NM_015915.5(ATL1):c.776C>T:p.Ser259Phe	coding	Pathogenic
14	50614731	C	T	C50614731T	ATL1	NM_001127713.1(ATL1):c.862+220C>T	noncoding	Benign
14	50614797	C	T	C50614797T	ATL1	NM_001127713.1(ATL1):c.862+286C>T	noncoding	Benign
14	50620545	A	G	A50620545G	ATL1	NM_001127713.1(ATL1):c.863-54A>G	noncoding	Benign
14	50620971	G	A	G50620971A	ATL1	NM_001127713.1(ATL1):c.990+245G>A	noncoding	Benign
14	50621837	T	G	T50621837G	ATL1	NM_001127713.1(ATL1):c.991-6T>G	noncoding	Benign/Likely_benign
14	50623009	G	T	G50623009T	ATL1	NM_001127713.1(ATL1):c.1048-168G>T	noncoding	Benign
14	50623177	G	A	G50623177A	ATL1	NM_001127713.1(ATL1):c.1048G>A:p.Ala350Thr	coding	Pathogenic
14	50623194	C	A	C50623194A	ATL1	NM_001127713.1(ATL1):c.1065C>A:p.Asn355Lys	coding	Pathogenic
14	50623397	T	G	T50623397G	ATL1	NM_001127713.1(ATL1):c.1119+149T>G	noncoding	Benign
14	50628071	T	C	T50628071C	ATL1	NM_001127713.1(ATL1):c.1160T>C:p.Leu387Ser	coding	Pathogenic/Likely_pathogenic
14	50628115	T	C	T50628115C	ATL1	NM_001127713.1(ATL1):c.1204T>C:p.Phe402Leu	coding	Pathogenic
14	50628134	T	C	T50628134C	ATL1	NM_015915.5(ATL1):c.1223T>C:p.Met408Thr	coding	Pathogenic
14	50628137	G	A	G50628137A	ATL1	NM_015915.5(ATL1):c.1226G>A:p.Gly409Asp	coding	Pathogenic
14	50628141	G	A	G50628141A	ATL1	NM_001127713.1(ATL1):c.1230G>A:p.Gly410=	coding	Benign
14	50628154	C	T	C50628154T	ATL1	NM_001127713.1(ATL1):c.1243C>T:p.Arg415Trp	coding	Pathogenic/Likely_pathogenic
14	50628157	C	T	C50628157T	ATL1	NM_001127713.1(ATL1):c.1246C>T:p.Arg416Cys	coding	Pathogenic
14	50628383	G	A	G50628383A	ATL1	NM_015915.5(ATL1):c.1472G>A:p.Trp491Ter	coding	Pathogenic
14	50628394	C	T	C50628394T	ATL1	NM_001127713.1(ATL1):c.1483C>T:p.Arg495Trp	coding	Pathogenic/Likely_pathogenic
14	50632152	C	A	C50632152A	ATL1	NM_001127713.1(ATL1):c.1552-77C>A	noncoding	Benign
14	50632297	A	G	A50632297G	ATL1	NM_015915.5(ATL1):c.1635A>G:p.Pro545=	coding	Benign
14	50632551	T	A	T50632551A	ATL1	NM_001127713.1(ATL1):c.*212T>A	noncoding	Benign
14	50632644	T	C	T50632644C	ATL1	NM_001127713.1(ATL1):c.*305T>C	noncoding	Benign
14	50632731	C	A	C50632731A	ATL1	NM_001127713.1(ATL1):c.*392C>A	noncoding	Benign
14	50632789	A	G	A50632789G	ATL1	NM_001127713.1(ATL1):c.*450A>G	noncoding	Benign
14	50632814	G	A	G50632814A	ATL1	NM_001127713.1(ATL1):c.*475G>A	noncoding	Benign
14	50632960	G	A	G50632960A	ATL1	NM_001127713.1(ATL1):c.*621G>A	noncoding	Benign
14	50729533	T	C	T50729533C	NIN	NM_020921.3(NIN):c.6068A>G:p.Asn2023Ser	coding	Benign
14	50729689	G	T	G50729689T	NIN	NM_020921.3(NIN):c.5912C>A:p.Pro1971Gln	coding	Benign
14	50729698	G	A	G50729698A	NIN	NM_020921.3(NIN):c.5903C>T:p.Thr1968Met	coding	Benign
14	50735593	G	C	G50735593C	NIN	NM_020921.3(NIN):c.5800C>G:p.Gln1934Glu	coding	Benign
14	50744304	T	C	T50744304C	NIN	NM_016350.4(NIN):c.2987A>G:p.Asn996Ser	coding	Pathogenic
14	50744355	C	T	C50744355T	NIN	NM_020921.3(NIN):c.5075G>A:p.Cys1692Tyr	coding	Benign
14	50748045	T	C	T50748045C	NIN	NM_020921.3(NIN):c.5011A>G:p.Ile1671Val	coding	Benign
14	50752531	C	T	C50752531T	NIN	NM_020921.3(NIN):c.4937G>A:p.Arg1646His	coding	Benign
14	50752602	T	G	T50752602G	NIN	NM_020921.3(NIN):c.4866A>C:p.Glu1622Asp	coding	Benign
14	50752680	A	G	A50752680G	NIN	NM_020921.3(NIN):c.4788T>C:p.Leu1596=	coding	Benign
14	50754623	C	T	C50754623T	NIN	NM_020921.3(NIN):c.4674G>A:p.Thr1558=	coding	Benign
14	50756635	A	G	A50756635G	NIN	NM_020921.3(NIN):c.4395T>C:p.Thr1465=	coding	Benign
14	50757071	C	T	C50757071T	NIN	NM_016350.4(NIN):c.2400-2204G>A	coding	Benign
14	50757150	G	A	G50757150A	NIN	NM_020921.3(NIN):c.3880C>T:p.Leu1294=	coding	Benign
14	50757576	C	A	C50757576A	NIN	NM_020921.3(NIN):c.3454G>T:p.Val1152Phe	coding	Benign
14	50757656	T	G	T50757656G	NIN	NM_016350.4(NIN):c.2399+2201A>C	coding	Benign
14	50758042	C	T	C50758042T	NIN	NM_020921.3(NIN):c.2988G>A:p.Ala996=	coding	Benign
14	50758354	C	T	C50758354T	NIN	NM_020921.3(NIN):c.2676G>A:p.Gln892=	coding	Benign
14	50760012	G	A	G50760012A	NIN	NM_020921.3(NIN):c.2244C>T:p.Ser748=	coding	Benign
14	50760184	T	C	T50760184C	NIN	NM_020921.3(NIN):c.2072A>G:p.His691Arg	coding	Benign
14	50761859	C	G	C50761859G	NIN	NM_020921.3(NIN):c.1827G>C:p.Leu609=	coding	Benign
14	50763872	C	T	C50763872T	NIN	NM_020921.3(NIN):c.1728G>A:p.Pro576=	coding	Benign
14	50777003	C	T	C50777003T	NIN	NM_020921.3(NIN):c.612G>A:p.Arg204=	coding	Benign/Likely_benign
14	50777015	A	G	A50777015G	NIN	NM_020921.3(NIN):c.600T>C:p.Gly200=	coding	Benign
14	50792748	C	T	C50792748T	NIN	NM_020921.3(NIN):c.399G>A:p.Ala133=	coding	Benign
14	50806738	T	A	T50806738A	NIN	NM_020921.3(NIN):c.264A>T:p.Pro88=	coding	Benign/Likely_benign
14	50905385	C	G	C50905385G	PYGL	NM_002863.5(PYGL):c.*7G>C	noncoding	Benign
14	50905402	T	C	T50905402C	PYGL	NM_002863.5(PYGL):c.2534A>G:p.Asn845Ser	coding	Benign/Likely_benign
14	50905475	A	G	A50905475G	PYGL	NM_002863.5(PYGL):c.2461T>C:p.Tyr821His	coding	Pathogenic
14	50905520	T	A	T50905520A	PYGL	NM_002863.5(PYGL):c.2416A>T:p.Ile806Leu	coding	Benign
14	50905597	C	T	C50905597T	PYGL	NM_002863.5(PYGL):c.2380-41G>A	noncoding	Benign
14	50909960	A	G	A50909960G	PYGL	NM_002863.5(PYGL):c.2112T>C:p.Ala704=	coding	Benign
14	50910048	G	A	G50910048A	PYGL	NM_002863.5(PYGL):c.2024C>T:p.Ser675Leu	coding	Pathogenic
14	50910049	A	T	A50910049T	PYGL	NM_002863.5(PYGL):c.2023T>A:p.Ser675Thr	coding	Pathogenic
14	50910055	C	T	C50910055T	PYGL	NM_002863.5(PYGL):c.2017G>A:p.Glu673Lys	coding	Pathogenic
14	50910056	G	A	G50910056A	PYGL	NM_002863.5(PYGL):c.2016C>T:p.Thr672=	coding	Benign
14	50911752	G	T	G50911752T	PYGL	NM_002863.5(PYGL):c.1947C>A:p.Tyr649Ter	coding	Pathogenic
14	50911804	T	A	T50911804A	PYGL	NM_002863.5(PYGL):c.1895A>T:p.Asn632Ile	coding	Pathogenic
14	50912155	C	T	C50912155T	PYGL	NM_002863.5(PYGL):c.1768+1G>A	noncoding	Pathogenic
14	50912241	G	A	G50912241A	PYGL	NM_002863.5(PYGL):c.1683C>T:p.Ser561=	coding	Benign/Likely_benign
14	50912309	A	G	A50912309G	PYGL	NM_002863.5(PYGL):c.1621-6T>C	noncoding	Benign
14	50913028	C	A	C50913028A	PYGL	NM_002863.5(PYGL):c.1620+1G>T	noncoding	Pathogenic
14	50914748	G	A	G50914748A	PYGL	NM_002863.5(PYGL):c.1471C>T:p.Arg491Cys	coding	Pathogenic
14	50915373	C	T	C50915373T	PYGL	NM_002863.5(PYGL):c.1366G>A:p.Val456Met	coding	Pathogenic
14	50915869	G	A	G50915869A	PYGL	NM_002863.5(PYGL):c.1195C>T:p.Arg399Ter	coding	Pathogenic
14	50915933	G	C	G50915933C	PYGL	NM_002863.5(PYGL):c.1131C>G:p.Asn377Lys	coding	Pathogenic
14	50915977	G	T	G50915977T	PYGL	NM_002863.5(PYGL):c.1093-6C>A	noncoding	Benign
14	50916714	G	A	G50916714A	PYGL	NM_002863.5(PYGL):c.1020C>T:p.Asp340=	coding	Benign
14	50916718	T	C	T50916718C	PYGL	NM_002863.5(PYGL):c.1016A>G:p.Asn339Ser	coding	Pathogenic
14	50916999	C	T	C50916999T	PYGL	NM_002863.5(PYGL):c.962G>A:p.Arg321His	coding	Benign
14	50917033	G	A	G50917033A	PYGL	NM_002863.5(PYGL):c.928C>T:p.Arg310Cys	coding	Benign
14	50920940	C	A	C50920940A	PYGL	NM_002863.5(PYGL):c.772+16G>T	noncoding	Benign
14	50921064	C	T	C50921064T	PYGL	NM_002863.5(PYGL):c.664G>A:p.Val222Ile	coding	Benign
14	50924101	C	G	C50924101G	PYGL	NM_002863.5(PYGL):c.529-1G>C	coding	Pathogenic
14	50924122	C	T	C50924122T	PYGL	NM_002863.5(PYGL):c.529-22G>A	noncoding	Benign
14	50935101	A	T	A50935101T	PYGL	NM_002863.5(PYGL):c.424+6T>A	noncoding	Benign/Likely_benign
14	50937801	G	A	G50937801A	PYGL	NM_002863.5(PYGL):c.280C>T:p.Arg94Ter	coding	Pathogenic
14	50937871	C	T	C50937871T	PYGL	NM_002863.5(PYGL):c.244-34G>A	noncoding	Benign
14	50944228	G	A	G50944228A	PYGL	NM_002863.5(PYGL):c.176C>T:p.Thr59Met	coding	Benign
14	50944251	G	A	G50944251A	PYGL	NM_002863.5(PYGL):c.153C>T:p.Asp51=	coding	Benign
14	50944311	A	G	A50944311G	PYGL	NM_002863.5(PYGL):c.93T>C:p.Ser31=	coding	Benign
14	50944432	T	G	T50944432G	PYGL	NM_002863.5(PYGL):c.-29A>C	noncoding	Benign
14	50944530	T	C	T50944530C	PYGL	NM_002863.4(PYGL):c.-127A>G	noncoding	Benign
14	51720077	T	C	T51720077C	FRMD6	NM_001267046.2(FRMD6):c.1047T>C:p.Ser349=	coding	Benign
14	51722052	C	T	C51722052T	FRMD6	NM_001267046.2(FRMD6):c.1464C>T:p.Leu488=	coding	Benign
14	52010917	A	G	A52010917G	NID2	NM_007361.4(NID2):c.3681T>C:p.Asp1227=	coding	Benign
14	52015181	G	T	G52015181T	NID2	NM_007361.4(NID2):c.3123C>A:p.Pro1041=	coding	Benign
14	52020132	G	A	G52020132A	NID2	NM_007361.4(NID2):c.2721C>T:p.Cys907=	coding	Benign
14	52027278	C	T	C52027278T	NID2	NM_007361.4(NID2):c.2597G>A:p.Arg866Gln	coding	Benign
14	52029672	G	A	G52029672A	NID2	NM_007361.4(NID2):c.2276C>T:p.Pro759Leu	coding	Benign
14	52040641	T	G	T52040641G	NID2	NM_007361.4(NID2):c.2026+10A>C	noncoding	Benign
14	52040794	C	T	C52040794T	NID2	NM_007361.4(NID2):c.1883G>A:p.Arg628His	coding	Benign
14	52053584	G	A	G52053584A	NID2	NM_007361.4(NID2):c.1424C>T:p.Thr475Ile	coding	Benign
14	52054151	T	C	T52054151C	NID2	NM_007361.4(NID2):c.938A>G:p.Asp313Gly	coding	Benign
14	52054285	G	A	G52054285A	NID2	NM_007361.4(NID2):c.804C>T:p.Phe268=	coding	Benign
14	52068092	G	A	G52068092A	NID2	NM_007361.4(NID2):c.300C>T:p.Pro100=	coding	Benign
14	52267833	C	T	C52267833T	PTGDR	NM_000953.3(PTGDR):c.19C>T:p.Arg7Cys	coding	Benign
14	52314795	T	G	T52314795G	PTGER2	NM_000956.4(PTGER2):c.247T>G:p.Cys83Gly	coding	Benign
14	52646210	A	G	A52646210G	ERO1A	NM_014584.3(ERO1A):c.1290T>C:p.Ser430=	coding	Benign
14	52658016	A	C	A52658016C	ERO1A	NM_014584.3(ERO1A):c.716-7T>G	noncoding	Benign
14	52658149	C	T	C52658149T	ERO1A	NM_014584.3(ERO1A):c.690G>A:p.Glu230=	coding	Benign
14	52671708	A	G	A52671708G	ERO1A	NM_014584.3(ERO1A):c.435-5T>C	noncoding	Benign
14	52744844	C	A	C52744844A	STYX	NM_145251.4(STYX):c.58-8C>A	noncoding	Benign
14	53046803	C	T	C53046803T	DDHD1	NM_001160148.2(DDHD1):c.2668G>A:p.Asp890Asn	coding	Benign
14	53054467	T	C	T53054467C	DDHD1	NM_001160148.2(DDHD1):c.2408A>G:p.His803Arg	coding	Benign
14	53056088	A	G	A53056088G	DDHD1	NM_001160148.2(DDHD1):c.1993-176T>C	noncoding	Benign
14	53058579	C	T	C53058579T	DDHD1	NM_001160148.2(DDHD1):c.1890G>A:p.Ala630=	coding	Benign/Likely_benign
14	53062951	A	T	A53062951T	DDHD1	NM_001160148.2(DDHD1):c.1758T>A:p.Thr586=	coding	Benign
14	53063185	T	C	T53063185C	DDHD1	NM_001160148.2(DDHD1):c.1524A>G:p.Gln508=	coding	Benign/Likely_benign
14	53072587	T	A	T53072587A	DDHD1	NM_001160148.2(DDHD1):c.1503+10A>T	noncoding	Benign/Likely_benign
14	53073531	A	G	A53073531G	DDHD1	NM_001160148.2(DDHD1):c.1396+210T>C	noncoding	Benign
14	53091883	T	C	T53091883C	DDHD1	NM_001160148.2(DDHD1):c.1191A>G:p.Thr397=	coding	Benign/Likely_benign
14	53093426	A	T	A53093426T	DDHD1	NM_001160148.2(DDHD1):c.1031T>A:p.Leu344Ter	coding	Pathogenic
14	53093572	T	C	T53093572C	DDHD1	NM_001160148.2(DDHD1):c.1013-128A>G	noncoding	Benign
14	53103813	G	A	G53103813A	DDHD1	NM_001160148.2(DDHD1):c.882C>T:p.Asp294=	coding	Benign
14	53152646	C	T	C53152646T	DDHD1	NM_001160148.2(DDHD1):c.453G>A:p.Pro151=	coding	Benign
14	53152651	C	A	C53152651A	DDHD1	NM_001160148.2(DDHD1):c.448G>T:p.Gly150Cys	coding	Benign
14	53152745	G	A	G53152745A	DDHD1	NM_001160148.2(DDHD1):c.354C>T:p.His118=	coding	Benign
14	53152782	C	G	C53152782G	DDHD1	NM_001160148.2(DDHD1):c.317G>C:p.Gly106Ala	coding	Benign
14	53152826	G	A	G53152826A	DDHD1	NM_001160148.2(DDHD1):c.273C>T:p.Phe91=	coding	Benign
14	53152918	C	G	C53152918G	DDHD1	NM_001160148.2(DDHD1):c.181G>C:p.Gly61Arg	coding	Benign
14	53152963	C	T	C53152963T	DDHD1	NM_001160148.2(DDHD1):c.136G>A:p.Gly46Ser	coding	Benign
14	53949884	T	A	T53949884A	BMP4	NM_001202.6(BMP4):c.*148A>T	noncoding	Benign/Likely_benign
14	53949944	G	A	G53949944A	BMP4	NM_001202.6(BMP4):c.*88C>T	noncoding	Benign/Likely_benign
14	53950004	T	A	T53950004A	BMP4	NM_001202.6(BMP4):c.*28A>T	noncoding	Benign/Likely_benign
14	53950222	G	A	G53950222A	BMP4	NM_001202.6(BMP4):c.1037C>T:p.Ala346Val	coding	Pathogenic
14	53950399	C	T	C53950399T	BMP4	NM_001202.6(BMP4):c.860G>A:p.Arg287His	coding	Benign/Likely_benign
14	53950586	T	C	T53950586C	BMP4	NM_001202.6(BMP4):c.673A>G:p.Thr225Ala	coding	Benign
14	53950667	G	A	G53950667A	BMP4	NM_001202.6(BMP4):c.592C>T:p.Arg198Ter	coding	Pathogenic
14	53950804	A	G	A53950804G	BMP4	NM_001202.6(BMP4):c.455T>C:p.Val152Ala	coding	Benign/Likely_benign
14	53950809	G	A	G53950809A	BMP4	NM_001202.6(BMP4):c.450C>T:p.Asn150=	coding	Benign
14	53951825	C	T	C53951825T	BMP4	NM_001202.6(BMP4):c.370+28G>A	noncoding	Benign/Likely_benign
14	53951945	T	C	T53951945C	BMP4	NM_001202.6(BMP4):c.278A>G:p.Glu93Gly	coding	Pathogenic
14	53951995	A	T	A53951995T	BMP4	NM_001202.6(BMP4):c.228T>A:p.Ser76Arg	coding	Benign
14	53956563	A	G	A53956563G	BMP4	NM_001202.6(BMP4):c.-146T>C	noncoding	Benign/Likely_benign
14	53956572	C	T	C53956572T	BMP4	NM_001202.6(BMP4):c.-155G>A	noncoding	Benign/Likely_benign
14	54531033	C	T	C54531033T	CGRRF1	NM_006568.3(CGRRF1):c.553C>T:p.Arg185Trp	coding	Benign
14	54538371	G	A	G54538371A	CGRRF1	NM_006568.3(CGRRF1):c.987G>A:p.Pro329=	coding	Benign
14	54568111	C	T	C54568111T	SAMD4A	NM_015589.6(SAMD4A):c.195C>T:p.Pro65=	coding	Benign
14	54764449	T	C	T54764449C	SAMD4A	NM_015589.6(SAMD4A):c.1511-6T>C	noncoding	Benign
14	54774964	G	A	G54774964A	SAMD4A	NM_015589.6(SAMD4A):c.1746G>A:p.Pro582=	coding	Benign
14	54776518	C	T	C54776518T	SAMD4A	NM_015589.6(SAMD4A):c.2022C>T:p.Asn674=	coding	Benign
14	54842102	A	G	A54842102G	GCH1	NM_000161.3(GCH1):c.*1915T>C	noncoding	Benign
14	54842787	G	A	G54842787A	GCH1	NM_000161.3(GCH1):c.*1230C>T	noncoding	Benign
14	54842834	G	A	G54842834A	GCH1	NM_000161.3(GCH1):c.*1183C>T	noncoding	Benign
14	54842841	G	C	G54842841C	GCH1	NM_000161.3(GCH1):c.*1176C>G	noncoding	Benign/Likely_benign
14	54842875	C	T	C54842875T	GCH1	NM_000161.3(GCH1):c.*1142G>A	noncoding	Benign
14	54842887	G	C	G54842887C	GCH1	NM_000161.3(GCH1):c.*1130C>G	noncoding	Benign/Likely_benign
14	54842895	T	A	T54842895A	GCH1	NM_000161.3(GCH1):c.*1122A>T	noncoding	Benign/Likely_benign
14	54843285	T	C	T54843285C	GCH1	NM_000161.3(GCH1):c.*732A>G	coding	Benign
14	54843340	C	T	C54843340T	GCH1	NM_000161.3(GCH1):c.*677G>A	coding	Benign
14	54843761	T	C	T54843761C	GCH1	NM_000161.3(GCH1):c.*256A>G	coding	Benign/Likely_benign
14	54843774	G	A	G54843774A	GCH1	NM_000161.3(GCH1):c.*243C>T	coding	Benign
14	54844005	A	G	A54844005G	GCH1	NM_000161.3(GCH1):c.*12T>C	coding	Benign
14	54844018	C	G	C54844018G	GCH1	NM_000161.3(GCH1):c.752G>C:p.Ter251Ser	coding	Pathogenic
14	54844108	A	G	A54844108G	GCH1	NM_000161.3(GCH1):c.662T>C:p.Met221Thr	coding	Pathogenic
14	54844124	G	A	G54844124A	GCH1	NM_000161.3(GCH1):c.646C>T:p.Arg216Ter	coding	Pathogenic
14	54844137	C	T	C54844137T	GCH1	NM_000161.3(GCH1):c.633G>A:p.Met211Ile	coding	Pathogenic
14	54845767	C	A	C54845767A	GCH1	NM_000161.3(GCH1):c.626+1G>T	noncoding	Pathogenic
14	54845767	C	T	C54845767T	GCH1	NM_000161.3(GCH1):c.626+1G>A	noncoding	Pathogenic
14	54845787	C	T	C54845787T	GCH1	NM_000161.3(GCH1):c.607G>A:p.Gly203Arg	coding	Pathogenic
14	54845792	C	T	C54845792T	GCH1	NM_000161.3(GCH1):c.602G>A:p.Gly201Glu	coding	Pathogenic
14	54845799	G	C	G54845799C	GCH1	NM_000161.3(GCH1):c.595C>G:p.Pro199Ala	coding	Pathogenic
14	54845843	C	T	C54845843T	GCH1	NM_000161.3(GCH1):c.551G>A:p.Arg184His	coding	Pathogenic
14	54847098	C	A	C54847098A	GCH1	NM_000161.3(GCH1):c.541+1G>T	noncoding	Pathogenic
14	54847098	C	G	C54847098G	GCH1	NM_000161.3(GCH1):c.541+1G>C	noncoding	Pathogenic
14	54847108	T	A	T54847108A	GCH1	NM_000161.3(GCH1):c.532A>T:p.Arg178Ter	coding	Pathogenic
14	54847131	C	G	C54847131G	GCH1	NM_000161.3(GCH1):c.510-1G>C	coding	Pathogenic
14	54847131	C	T	C54847131T	GCH1	NM_000161.3(GCH1):c.510-1G>A	coding	Pathogenic
14	54859738	T	C	T54859738C	GCH1	NM_000161.3(GCH1):c.454-2A>G	noncoding	Pathogenic
14	54865349	T	G	T54865349G	GCH1	NM_000161.3(GCH1):c.431A>C:p.His144Pro	coding	Pathogenic
14	54865376	A	T	A54865376T	GCH1	NM_000161.3(GCH1):c.404T>A:p.Ile135Lys	coding	Pathogenic
14	54865379	T	A	T54865379A	GCH1	NM_000161.3(GCH1):c.401A>T:p.Asp134Val	coding	Pathogenic
14	54865437	C	G	C54865437G	GCH1	NM_000161.3(GCH1):c.344-1G>C	coding	Pathogenic
14	54865437	C	T	C54865437T	GCH1	NM_000161.3(GCH1):c.344-1G>A	coding	Pathogenic
14	54902341	C	T	C54902341T	GCH1	NM_000161.3(GCH1):c.323G>A:p.Gly108Asp	coding	Pathogenic
14	54902402	G	A	G54902402A	GCH1	NM_000161.3(GCH1):c.262C>T:p.Arg88Trp	coding	Pathogenic
14	54902414	C	A	C54902414A	GCH1	NM_000161.3(GCH1):c.250G>T:p.Glu84Ter	coding	Pathogenic
14	54902453	G	A	G54902453A	GCH1	NM_000161.3(GCH1):c.211C>T:p.Leu71=	coding	Benign/Likely_benign
14	54902505	C	T	C54902505T	GCH1	NM_000161.3(GCH1):c.159G>A:p.Trp53Ter	coding	Pathogenic
14	54902522	G	A	G54902522A	GCH1	NM_000161.3(GCH1):c.142C>T:p.Gln48Ter	coding	Pathogenic
14	54902661	C	G	C54902661G	GCH1	NM_000161.3(GCH1):c.3G>C:p.Met1Ile	coding	Pathogenic
14	54902663	T	A	T54902663A	GCH1	NM_000161.3(GCH1):c.1A>T:p.Met1Leu	coding	Pathogenic
14	54902663	T	C	T54902663C	GCH1	NM_000161.3(GCH1):c.1A>G:p.Met1Val	coding	Pathogenic
14	54902703	G	A	G54902703A	GCH1	NM_000161.3(GCH1):c.-40C>T	noncoding	Benign
14	54902732	C	G	C54902732G	GCH1	NM_000161.3(GCH1):c.-69G>C	noncoding	Benign
14	54902784	A	G	A54902784G	GCH1	NM_000161.3(GCH1):c.-121T>C	noncoding	Benign
14	54902794	G	A	G54902794A	GCH1	NM_000161.3(GCH1):c.-131C>T	noncoding	Benign
14	54941681	T	G	T54941681G	WDHD1	NM_007086.4(WDHD1):c.3199A>C:p.Asn1067His	coding	Benign
14	54944434	A	G	A54944434G	WDHD1	NM_007086.4(WDHD1):c.3087T>C:p.Asn1029=	coding	Benign
14	54955599	G	A	G54955599A	WDHD1	NM_007086.4(WDHD1):c.3012C>T:p.Thr1004=	coding	Benign
14	54962541	C	T	C54962541T	WDHD1	NM_007086.4(WDHD1):c.2658G>A:p.Ser886=	coding	Benign
14	54962857	A	G	A54962857G	WDHD1	NM_007086.4(WDHD1):c.2532-4T>C	noncoding	Benign
14	54989171	C	G	C54989171G	WDHD1	NM_007086.4(WDHD1):c.1383G>C:p.Glu461Asp	coding	Benign
14	54995638	C	T	C54995638T	WDHD1	NM_007086.4(WDHD1):c.1118G>A:p.Arg373Gln	coding	Benign
14	54995744	A	G	A54995744G	WDHD1	NM_007086.4(WDHD1):c.1012T>C:p.Phe338Leu	coding	Benign
14	55008320	T	G	T55008320G	WDHD1	NM_007086.4(WDHD1):c.500A>C:p.Asp167Ala	coding	Benign
14	55010371	G	A	G55010371A	WDHD1	NM_007086.4(WDHD1):c.279C>T:p.Phe93=	coding	Benign
14	55043101	G	A	G55043101A	SOCS4	NM_199421.2(SOCS4):c.60G>A:p.Arg20=	coding	Benign
14	55043566	G	A	G55043566A	SOCS4	NM_199421.2(SOCS4):c.525G>A:p.Gln175=	coding	Benign
14	55137398	G	A	G55137398A	LGALS3	NM_002306.4(LGALS3):c.18+7G>A	coding	Benign
14	55138050	T	C	T55138050C	LGALS3	NM_002306.4(LGALS3):c.24T>C:p.His8=	coding	Benign
14	55138320	C	T	C55138320T	LGALS3	NM_002306.4(LGALS3):c.294C>T:p.Thr98=	coding	Benign
14	55142700	G	A	G55142700A	LGALS3	NM_002306.4(LGALS3):c.548G>A:p.Arg183Lys	coding	Benign
14	55177055	T	G	T55177055G	DLGAP5	NM_014750.5(DLGAP5):c.1049+7A>C	noncoding	Benign
14	55428815	C	T	C55428815T	TBPL2	NM_199047.2(TBPL2):c.948G>A:p.Gln316=	coding	Benign
14	55628008	C	A	C55628008A	KTN1	NM_001079521.2(KTN1):c.1060C>A:p.Arg354=	coding	Benign
14	55629968	A	C	A55629968C	KTN1	NM_001079521.2(KTN1):c.1092A>C:p.Thr364=	coding	Benign
14	55639190	C	T	C55639190T	KTN1	NM_001079521.2(KTN1):c.1791C>T:p.Ser597=	coding	Benign
14	55640948	G	C	G55640948C	KTN1	NM_001079521.2(KTN1):c.1999G>C:p.Glu667Gln	coding	Benign
14	55647013	A	G	A55647013G	KTN1	NM_001079521.2(KTN1):c.2207+6A>G	noncoding	Benign
14	55671640	C	T	C55671640T	KTN1	NM_001079521.2(KTN1):c.3423C>T:p.Ser1141=	coding	Benign
14	55678416	T	C	T55678416C	KTN1	NM_001079521.2(KTN1):c.3920T>C:p.Ile1307Thr	coding	Benign
14	56290386	G	A	G56290386A	PELI2	NM_021255.3(PELI2):c.626G>A:p.Arg209His	coding	Benign
14	56296737	C	T	C56296737T	PELI2	NM_021255.3(PELI2):c.834C>T:p.Asn278=	coding	Benign
14	56585829	T	C	T56585829C	TMEM260	NM_017799.4(TMEM260):c.261T>C:p.Phe87=	coding	Benign
14	56609137	G	T	G56609137T	TMEM260	NM_017799.4(TMEM260):c.668G>T:p.Ser223Ile	coding	Benign
14	56609258	C	T	C56609258T	TMEM260	NM_017799.4(TMEM260):c.789C>T:p.Leu263=	coding	Benign
14	56621697	C	T	C56621697T	TMEM260	NM_017799.4(TMEM260):c.1393C>T:p.Gln465Ter	coding	Pathogenic
14	56636504	C	G	C56636504G	TMEM260	NM_017799.4(TMEM260):c.1779-4C>G	noncoding	Benign
14	56800769	T	C	T56800769C	OTX2	NM_021728.4(OTX2):c.*966A>G	noncoding	Benign/Likely_benign
14	56800956	C	T	C56800956T	OTX2	NM_021728.4(OTX2):c.*779G>A	noncoding	Benign/Likely_benign
14	56801725	C	T	C56801725T	OTX2	NM_021728.4(OTX2):c.*10G>A	noncoding	Benign/Likely_benign
14	56801789	A	G	A56801789G	OTX2	NM_021728.4(OTX2):c.840T>C:p.Ala280=	coding	Benign/Likely_benign
14	56801798	G	A	G56801798A	OTX2	NM_021728.4(OTX2):c.831C>T:p.Asn277=	coding	Benign
14	56801931	T	C	T56801931C	OTX2	NM_021728.4(OTX2):c.698A>G:p.Asn233Ser	coding	Pathogenic
14	56802043	C	A	C56802043A	OTX2	NM_021728.4(OTX2):c.586G>T:p.Gly196Ter	coding	Pathogenic
14	56802068	A	T	A56802068T	OTX2	NM_021728.4(OTX2):c.561T>A:p.Tyr187Ter	coding	Pathogenic
14	56802095	G	T	G56802095T	OTX2	NM_021728.4(OTX2):c.534C>A:p.Cys178Ter	coding	Pathogenic
14	56802170	G	A	G56802170A	OTX2	NM_021728.4(OTX2):c.459C>T:p.Ser153=	coding	Benign/Likely_benign
14	56802192	G	C	G56802192C	OTX2	NM_021728.4(OTX2):c.437C>G:p.Ser146Ter	coding	Pathogenic
14	56802333	G	T	G56802333T	OTX2	NM_021728.4(OTX2):c.296C>A:p.Ala99Asp	coding	Pathogenic
14	56802335	T	A	T56802335A	OTX2	NM_021728.4(OTX2):c.294A>T:p.Arg98Ser	coding	Pathogenic
14	56802340	G	A	G56802340A	OTX2	NM_021728.4(OTX2):c.289C>T:p.Arg97Ter	coding	Pathogenic
14	56802340	G	C	G56802340C	OTX2	NM_021728.4(OTX2):c.289C>G:p.Arg97Gly	coding	Pathogenic
14	56804235	G	A	G56804235A	OTX2	NM_021728.4(OTX2):c.226C>T:p.Arg76Ter	coding	Pathogenic
14	56805348	G	A	G56805348A	OTX2	NM_021728.4(OTX2):c.97+12C>T	noncoding	Benign/Likely_benign
14	57480703	G	A	G57480703A	CCDC198	NM_018168.4(CCDC198):c.547C>T:p.Gln183Ter	coding	Benign
14	58258000	T	C	T58258000C	PSMA3	NM_002788.4(PSMA3):c.404+2T>C	noncoding	Pathogenic
14	58428306	T	A	T58428306A	KIAA0586	NM_001329943.3(KIAA0586):c.42T>A:p.Ile14=	coding	Benign
14	58428364	G	T	G58428364T	KIAA0586	NM_001329943.3(KIAA0586):c.100G>T:p.Val34Phe	coding	Benign
14	58428458	C	G	C58428458G	KIAA0586	NM_001329943.3(KIAA0586):c.194C>G:p.Ser65Ter	coding	Pathogenic
14	58429365	T	A	T58429365A	KIAA0586	NM_001329943.3(KIAA0586):c.202T>A:p.Ser68Thr	coding	Benign
14	58429420	T	C	T58429420C	KIAA0586	NM_001329943.3(KIAA0586):c.257T>C:p.Met86Thr	coding	Benign
14	58442717	T	C	T58442717C	KIAA0586	NM_001329943.3(KIAA0586):c.422T>C:p.Met141Thr	coding	Benign/Likely_benign
14	58443968	G	A	G58443968A	KIAA0586	NM_001329943.3(KIAA0586):c.600G>A:p.Leu200=	coding	Benign
14	58444011	C	T	C58444011T	KIAA0586	NM_001329943.3(KIAA0586):c.643C>T:p.Gln215Ter	coding	Pathogenic
14	58444066	G	A	G58444066A	KIAA0586	NM_001329943.3(KIAA0586):c.698G>A:p.Arg233Lys	coding	Benign
14	58444098	G	T	G58444098T	KIAA0586	NM_001329943.3(KIAA0586):c.730G>T:p.Glu244Ter	coding	Pathogenic
14	58444155	C	T	C58444155T	KIAA0586	NM_001329943.3(KIAA0586):c.787C>T:p.Gln263Ter	coding	Pathogenic
14	58444158	C	T	C58444158T	KIAA0586	NM_001329943.3(KIAA0586):c.790C>T:p.Gln264Ter	coding	Pathogenic
14	58448363	C	T	C58448363T	KIAA0586	NM_001329943.3(KIAA0586):c.831C>T:p.Leu277=	coding	Pathogenic
14	58450591	A	T	A58450591T	KIAA0586	NM_001329943.3(KIAA0586):c.974A>T:p.Glu325Val	coding	Benign
14	58450617	C	T	C58450617T	KIAA0586	NM_001329943.3(KIAA0586):c.1000C>T:p.Gln334Ter	coding	Pathogenic
14	58450673	A	G	A58450673G	KIAA0586	NM_001329943.3(KIAA0586):c.1056A>G:p.Ser352=	coding	Benign
14	58450714	A	T	A58450714T	KIAA0586	NM_001329943.3(KIAA0586):c.1097A>T:p.Glu366Val	coding	Benign
14	58453450	A	G	A58453450G	KIAA0586	NM_001329943.3(KIAA0586):c.1230A>G:p.Gly410=	coding	Benign
14	58453460	G	A	G58453460A	KIAA0586	NM_001329943.3(KIAA0586):c.1240G>A:p.Glu414Lys	coding	Benign
14	58456701	G	C	G58456701C	KIAA0586	NM_001329943.3(KIAA0586):c.1254-1G>C	noncoding	Pathogenic
14	58456812	T	C	T58456812C	KIAA0586	NM_001329943.3(KIAA0586):c.1362+2T>C	noncoding	Pathogenic
14	58457835	C	T	C58457835T	KIAA0586	NM_001329943.3(KIAA0586):c.1439C>T:p.Thr480Ile	coding	Benign
14	58457934	A	T	A58457934T	KIAA0586	NM_001329943.3(KIAA0586):c.1538A>T:p.Asp513Val	coding	Pathogenic
14	58457939	G	A	G58457939A	KIAA0586	NM_001329943.3(KIAA0586):c.1543G>A:p.Ala515Thr	coding	Benign
14	58457966	T	A	T58457966A	KIAA0586	NM_001329943.3(KIAA0586):c.1570T>A:p.Leu524Ile	coding	Benign
14	58458518	G	A	G58458518A	KIAA0586	NM_001329943.3(KIAA0586):c.1629G>A:p.Trp543Ter	coding	Pathogenic
14	58458545	G	A	G58458545A	KIAA0586	NM_001329943.3(KIAA0586):c.1656G>A:p.Gln552=	coding	Pathogenic
14	58459894	C	T	C58459894T	KIAA0586	NM_001329943.3(KIAA0586):c.1708C>T:p.Gln570Ter	coding	Pathogenic
14	58459990	C	T	C58459990T	KIAA0586	NM_001329943.3(KIAA0586):c.1804C>T:p.Gln602Ter	coding	Pathogenic
14	58465832	T	C	T58465832C	KIAA0586	NM_001329943.3(KIAA0586):c.2060-3T>C	noncoding	Benign
14	58467734	G	C	G58467734C	KIAA0586	NM_001329943.3(KIAA0586):c.2255-1G>C	noncoding	Pathogenic
14	58467833	C	T	C58467833T	KIAA0586	NM_001329943.3(KIAA0586):c.2353C>T:p.Arg785Ter	coding	Pathogenic
14	58470698	T	C	T58470698C	KIAA0586	NM_001329943.3(KIAA0586):c.2528T>C:p.Leu843Pro	coding	Benign
14	58474707	C	T	C58474707T	KIAA0586	NM_001329943.3(KIAA0586):c.2735C>T:p.Pro912Leu	coding	Benign
14	58482672	G	A	G58482672A	KIAA0586	NM_001329943.3(KIAA0586):c.3104G>A:p.Gly1035Asp	coding	Benign
14	58482712	G	A	G58482712A	KIAA0586	NM_001329943.3(KIAA0586):c.3144G>A:p.Pro1048=	coding	Pathogenic
14	58487027	G	A	G58487027A	KIAA0586	NM_001329943.3(KIAA0586):c.3165G>A:p.Leu1055=	coding	Benign
14	58487145	A	C	A58487145C	KIAA0586	NM_001329943.3(KIAA0586):c.3283A>C:p.Lys1095Gln	coding	Benign
14	58488761	C	G	C58488761G	KIAA0586	NM_001329943.3(KIAA0586):c.3668C>G:p.Ser1223Ter	coding	Pathogenic
14	58488812	T	C	T58488812C	KIAA0586	NM_001329943.3(KIAA0586):c.3719T>C:p.Leu1240Ser	coding	Benign
14	58492205	A	G	A58492205G	KIAA0586	NM_001329943.3(KIAA0586):c.3920A>G:p.Asp1307Gly	coding	Benign
14	58498839	G	A	G58498839A	KIAA0586	NM_001329943.3(KIAA0586):c.4047G>A:p.Ala1349=	coding	Benign
14	58498917	A	G	A58498917G	KIAA0586	NM_001329943.3(KIAA0586):c.4125A>G:p.Gln1375=	coding	Benign
14	58540102	T	C	T58540102C	KIAA0586	NM_001329943.3(KIAA0586):c.4461T>C:p.Ile1487=	coding	Benign
14	58547845	G	A	G58547845A	KIAA0586	NM_001329943.3(KIAA0586):c.4560G>A:p.Pro1520=	coding	Benign
14	58547914	G	A	G58547914A	KIAA0586	NM_001329943.3(KIAA0586):c.4629G>A:p.Ser1543=	coding	Benign
14	58638439	G	C	G58638439C	DACT1	NM_001079520.2(DACT1):c.237G>C:p.Ala79=	coding	Benign
14	58638462	G	T	G58638462T	DACT1	NM_001079520.2(DACT1):c.260G>T:p.Gly87Val	coding	Benign
14	58640877	T	G	T58640877G	DACT1	NM_001079520.2(DACT1):c.478+9T>G	noncoding	Benign
14	58645503	G	A	G58645503A	DACT1	NM_001079520.2(DACT1):c.769G>A:p.Glu257Lys	coding	Benign
14	58645580	C	A	C58645580A	DACT1	NM_001079520.2(DACT1):c.846C>A:p.Ser282=	coding	Benign
14	58645879	G	A	G58645879A	DACT1	NM_001079520.2(DACT1):c.1145G>A:p.Trp382Ter	coding	Pathogenic
14	58645927	T	C	T58645927C	DACT1	NM_001079520.2(DACT1):c.1193T>C:p.Leu398Pro	coding	Benign
14	58645958	C	T	C58645958T	DACT1	NM_001079520.2(DACT1):c.1224C>T:p.Ser408=	coding	Benign
14	58646138	C	G	C58646138G	DACT1	NM_001079520.2(DACT1):c.1404C>G:p.Pro468=	coding	Benign
14	58646234	C	G	C58646234G	DACT1	NM_001079520.2(DACT1):c.1500C>G:p.Ala500=	coding	Benign
14	58646630	T	G	T58646630G	DACT1	NM_001079520.2(DACT1):c.1896T>G:p.Pro632=	coding	Benign
14	58646855	C	T	C58646855T	DACT1	NM_001079520.2(DACT1):c.2121C>T:p.Asp707=	coding	Benign
14	58646882	C	T	C58646882T	DACT1	NM_001079520.2(DACT1):c.2148C>T:p.Cys716=	coding	Benign
14	59263624	T	C	T59263624C	DAAM1	NM_001270520.2(DAAM1):c.147T>C:p.Pro49=	coding	Benign
14	59326037	G	A	G59326037A	DAAM1	NM_001270520.2(DAAM1):c.1134G>A:p.Pro378=	coding	Benign
14	59330697	T	G	T59330697G	DAAM1	NM_001270520.2(DAAM1):c.1560+9T>G	noncoding	Benign
14	59331434	C	T	C59331434T	DAAM1	NM_001270520.2(DAAM1):c.1786C>T:p.Leu596=	coding	Benign
14	59331436	A	G	A59331436G	DAAM1	NM_001270520.2(DAAM1):c.1788A>G:p.Leu596=	coding	Benign
14	59355218	C	T	C59355218T	DAAM1	NM_001270520.2(DAAM1):c.2410C>T:p.Leu804=	coding	Benign
14	59359464	A	C	A59359464C	DAAM1	NM_001270520.2(DAAM1):c.2593A>C:p.Asn865His	coding	Benign
14	59727466	C	T	C59727466T	RTN1	NM_021136.3(RTN1):c.1218G>A:p.Ala406=	coding	Benign
14	59727615	T	C	T59727615C	RTN1	NM_021136.3(RTN1):c.1069A>G:p.Ile357Val	coding	Benign
14	59745908	C	T	C59745908T	RTN1	NM_021136.3(RTN1):c.815G>A:p.Arg272His	coding	Benign
14	59745983	C	T	C59745983T	RTN1	NM_021136.3(RTN1):c.740G>A:p.Gly247Glu	coding	Benign
14	59746084	G	A	G59746084A	RTN1	NM_021136.3(RTN1):c.639C>T:p.Pro213=	coding	Benign
14	59746353	T	C	T59746353C	RTN1	NM_021136.3(RTN1):c.370A>G:p.Thr124Ala	coding	Benign
14	59746490	C	G	C59746490G	RTN1	NM_021136.3(RTN1):c.242-9G>C	noncoding	Benign
14	60509238	T	C	T60509238C	SIX6	NM_007374.3(SIX6):c.-161T>C	noncoding	Benign
14	60509416	C	T	C60509416T	SIX6	NM_007374.3(SIX6):c.18C>T:p.Ile6=	coding	Benign
14	60509508	T	C	T60509508C	SIX6	NM_007374.3(SIX6):c.110T>C:p.Leu37Pro	coding	Pathogenic
14	60509819	C	A	C60509819A	SIX6	NM_007374.3(SIX6):c.421C>A:p.His141Asn	coding	Benign
14	60509945	G	C	G60509945C	SIX6	NM_007374.3(SIX6):c.547G>C:p.Asp183His	coding	Pathogenic
14	60511353	C	G	C60511353G	SIX6	NM_007374.3(SIX6):c.*101C>G	noncoding	Benign
14	60644787	G	A	G60644787A	SIX1	NM_005982.4(SIX1):c.*1496C>T	noncoding	Benign
14	60645204	A	T	A60645204T	SIX1	NM_005982.4(SIX1):c.*1079T>A	noncoding	Benign/Likely_benign
14	60645239	C	A	C60645239A	SIX1	NM_005982.4(SIX1):c.*1044G>T	noncoding	Benign/Likely_benign
14	60645681	C	G	C60645681G	SIX1	NM_005982.4(SIX1):c.*602G>C	noncoding	Benign
14	60645840	T	C	T60645840C	SIX1	NM_005982.4(SIX1):c.*443A>G	noncoding	Benign/Likely_benign
14	60645879	T	C	T60645879C	SIX1	NM_005982.4(SIX1):c.*404A>G	noncoding	Benign
14	60645949	G	C	G60645949C	SIX1	NM_005982.4(SIX1):c.*334C>G	noncoding	Benign
14	60645986	A	C	A60645986C	SIX1	NM_005982.4(SIX1):c.*297T>G	noncoding	Benign
14	60646392	G	T	G60646392T	SIX1	NM_005982.4(SIX1):c.746C>A:p.Pro249Gln	coding	Benign
14	60646560	T	A	T60646560A	SIX1	NM_005982.4(SIX1):c.578A>T:p.Asn193Ile	coding	Benign/Likely_benign
14	60648804	T	C	T60648804C	SIX1	NM_005982.4(SIX1):c.386A>G:p.Tyr129Cys	coding	Pathogenic
14	60648817	C	T	C60648817T	SIX1	NM_005982.4(SIX1):c.373G>A:p.Glu125Lys	coding	Pathogenic
14	60648826	A	T	A60648826T	SIX1	NM_005982.4(SIX1):c.364T>A:p.Trp122Arg	coding	Pathogenic
14	60648856	G	A	G60648856A	SIX1	NM_005982.4(SIX1):c.334C>T:p.Arg112Cys	coding	Pathogenic
14	60648861	C	T	C60648861T	SIX1	NM_005982.4(SIX1):c.329G>A:p.Arg110Gln	coding	Pathogenic
14	60648862	G	A	G60648862A	SIX1	NM_005982.4(SIX1):c.328C>T:p.Arg110Trp	coding	Pathogenic
14	60648873	A	C	A60648873C	SIX1	NM_005982.4(SIX1):c.317T>G:p.Val106Gly	coding	Pathogenic
14	60649010	G	C	G60649010C	SIX1	NM_005982.4(SIX1):c.180C>G:p.Arg60=	coding	Benign/Likely_benign
14	60649028	C	T	C60649028T	SIX1	NM_005982.4(SIX1):c.162G>A:p.Ala54=	coding	Benign/Likely_benign
14	60649140	A	T	A60649140T	SIX1	NM_005982.4(SIX1):c.50T>A:p.Val17Glu	coding	Pathogenic
14	60649203	C	A	C60649203A	SIX1	NM_005982.4(SIX1):c.-14G>T	noncoding	Benign/Likely_benign
14	60649213	G	A	G60649213A	SIX1	NM_005982.4(SIX1):c.-24C>T	noncoding	Benign/Likely_benign
14	60649310	G	C	G60649310C	SIX1	NM_005982.4(SIX1):c.-121C>G	noncoding	Benign
14	60649326	G	A	G60649326A	SIX1	NM_005982.4(SIX1):c.-137C>T	noncoding	Benign/Likely_benign
14	60649373	T	G	T60649373G	SIX1	NM_005982.4(SIX1):c.-184A>C	noncoding	Benign/Likely_benign
14	60796349	C	T	C60796349T	MNAT1	NM_002431.4(MNAT1):c.222C>T:p.Ile74=	coding	Benign
14	60975178	T	C	T60975178C	TRMT5	NM_020810.3(TRMT5):c.1461A>G:p.Pro487=	coding	Benign
14	60975694	T	G	T60975694G	TRMT5	NM_020810.3(TRMT5):c.1225A>C:p.Ser409Arg	coding	Benign
14	60975763	T	C	T60975763C	TRMT5	NM_020810.3(TRMT5):c.1156A>G:p.Met386Val	coding	Pathogenic
14	60975820	C	G	C60975820G	TRMT5	NM_020810.3(TRMT5):c.1099G>C:p.Glu367Gln	coding	Benign
14	60976047	C	T	C60976047T	TRMT5	NM_020810.3(TRMT5):c.872G>A:p.Arg291His	coding	Pathogenic
14	60976079	A	G	A60976079G	TRMT5	NM_020810.3(TRMT5):c.840T>C:p.Tyr280=	coding	Benign
14	60979227	G	C	G60979227C	TRMT5	NM_020810.3(TRMT5):c.667+4C>G	noncoding	Benign
14	60979363	G	T	G60979363T	TRMT5	NM_020810.3(TRMT5):c.535C>A:p.His179Asn	coding	Benign/Likely_benign
14	60979429	T	A	T60979429A	TRMT5	NM_020810.3(TRMT5):c.469A>T:p.Ser157Cys	coding	Benign
14	60979667	A	G	A60979667G	TRMT5	NM_020810.3(TRMT5):c.231T>C:p.Ser77=	coding	Benign
14	61457497	T	C	T61457497C	PRKCH	NM_006255.4(PRKCH):c.1105-9T>C	noncoding	Benign
14	61485558	T	A	T61485558A	PRKCH	NM_006255.4(PRKCH):c.1335T>A:p.Ile445=	coding	Benign
14	61727515	G	A	G61727515A	HIF1A	NM_001530.4(HIF1A):c.633G>A:p.Gly211=	coding	Benign
14	61727650	T	C	T61727650C	HIF1A	NM_001530.4(HIF1A):c.768T>C:p.Asp256=	coding	Benign
14	61732424	C	T	C61732424T	HIF1A	NM_001530.4(HIF1A):c.780C>T:p.Thr260=	coding	Benign
14	61736905	G	A	G61736905A	HIF1A	NM_001530.4(HIF1A):c.1045G>A:p.Asp349Asn	coding	Benign
14	61737102	C	G	C61737102G	HIF1A	NM_001530.4(HIF1A):c.1242C>G:p.Gly414=	coding	Benign
14	61738090	C	T	C61738090T	HIF1A	NM_001530.4(HIF1A):c.1253C>T:p.Thr418Ile	coding	Benign
14	61738101	G	T	G61738101T	HIF1A	NM_001530.4(HIF1A):c.1264G>T:p.Asp422Tyr	coding	Benign
14	61740835	G	A	G61740835A	HIF1A	NM_001530.4(HIF1A):c.1740G>A:p.Leu580=	coding	Benign
14	61740895	A	T	A61740895T	HIF1A	NM_001530.4(HIF1A):c.1800A>T:p.Thr600=	coding	Benign
14	61746956	G	A	G61746956A	HIF1A	NM_001530.4(HIF1A):c.2352G>A:p.Gly784=	coding	Benign
14	62707649	C	G	C62707649G	KCNH5	NM_139318.5(KCNH5):c.2826G>C:p.Leu942=	coding	Benign
14	62707823	C	T	C62707823T	KCNH5	NM_139318.5(KCNH5):c.2652G>A:p.Pro884=	coding	Benign
14	62708160	T	C	T62708160C	KCNH5	NM_139318.5(KCNH5):c.2315A>G:p.Glu772Gly	coding	Benign
14	62708387	C	T	C62708387T	KCNH5	NM_139318.5(KCNH5):c.2088G>A:p.Val696=	coding	Benign
14	62802471	G	T	G62802471T	KCNH5	NM_139318.5(KCNH5):c.1680C>A:p.Arg560=	coding	Benign
14	62802531	T	C	T62802531C	KCNH5	NM_139318.5(KCNH5):c.1620A>G:p.Leu540=	coding	Benign
14	62950126	T	C	T62950126C	KCNH5	NM_139318.5(KCNH5):c.1369+7A>G	noncoding	Benign
14	62950404	T	C	T62950404C	KCNH5	NM_139318.5(KCNH5):c.1098A>G:p.Ile366Met	coding	Benign
14	62950522	C	T	C62950522T	KCNH5	NM_139318.5(KCNH5):c.980G>A:p.Arg327His	coding	Pathogenic
14	62980995	G	A	G62980995A	KCNH5	NM_139318.5(KCNH5):c.819C>T:p.Pro273=	coding	Benign
14	62981039	G	A	G62981039A	KCNH5	NM_139318.5(KCNH5):c.775C>T:p.Leu259=	coding	Benign
14	62987120	C	T	C62987120T	KCNH5	NM_139318.5(KCNH5):c.501G>A:p.Thr167=	coding	Benign
14	63001413	T	C	T63001413C	KCNH5	NM_139318.5(KCNH5):c.351A>G:p.Glu117=	coding	Benign/Likely_benign
14	63016833	G	A	G63016833A	KCNH5	NM_139318.5(KCNH5):c.195C>T:p.Cys65=	coding	Benign
14	63384503	G	A	G63384503A	PPP2R5E	NM_006246.5(PPP2R5E):c.1143C>T:p.Asn381=	coding	Benign
14	63389678	T	C	T63389678C	PPP2R5E	NM_006246.5(PPP2R5E):c.1008A>G:p.Gln336=	coding	Benign
14	63415211	G	T	G63415211T	PPP2R5E	NM_006246.5(PPP2R5E):c.478C>A:p.Arg160=	coding	Benign
14	63852971	C	T	C63852971T	SYNE2	NM_182914.2(SYNE2):c.-224C>T	noncoding	Benign
14	63852993	G	C	G63852993C	SYNE2	NM_182914.2(SYNE2):c.-202G>C	noncoding	Benign
14	63853152	G	A	G63853152A	SYNE2	NM_182914.2(SYNE2):c.-52+9G>A	noncoding	Benign
14	63909170	C	T	C63909170T	SYNE2	NM_182914.2(SYNE2):c.22C>T:p.Pro8Ser	coding	Benign/Likely_benign
14	63941718	C	T	C63941718T	SYNE2	NM_182914.2(SYNE2):c.165C>T:p.Ser55=	coding	Benign
14	63941927	A	G	A63941927G	SYNE2	NM_182914.2(SYNE2):c.280A>G:p.Ile94Val	coding	Benign/Likely_benign
14	63942134	G	C	G63942134C	SYNE2	NM_182914.2(SYNE2):c.399G>C:p.Leu133=	coding	Benign
14	63949846	C	G	C63949846G	SYNE2	NM_182914.2(SYNE2):c.430C>G:p.Leu144Val	coding	Benign/Likely_benign
14	63954856	G	T	G63954856T	SYNE2	NM_182914.3(SYNE2):c.728G>T:p.Arg243Ile	coding	Benign
14	63954930	T	G	T63954930G	SYNE2	NM_182914.3(SYNE2):c.787+15T>G	noncoding	Benign
14	63964010	A	G	A63964010G	SYNE2	NM_182914.2(SYNE2):c.990+10A>G	noncoding	Benign
14	63977907	C	A	C63977907A	SYNE2	NM_182914.2(SYNE2):c.1296C>A:p.Ser432Arg	coding	Benign
14	63978927	G	A	G63978927A	SYNE2	NM_182914.2(SYNE2):c.1482G>A:p.Leu494=	coding	Benign
14	63981058	T	C	T63981058C	SYNE2	NM_182914.2(SYNE2):c.1721T>C:p.Ile574Thr	coding	Benign
14	63982645	C	G	C63982645G	SYNE2	NM_182914.2(SYNE2):c.1852C>G:p.Leu618Val	coding	Benign/Likely_benign
14	63982666	C	T	C63982666T	SYNE2	NM_182914.2(SYNE2):c.1873C>T:p.His625Tyr	coding	Benign/Likely_benign
14	63983748	G	A	G63983748A	SYNE2	NM_182914.2(SYNE2):c.2013G>A:p.Leu671=	coding	Benign
14	63983761	A	G	A63983761G	SYNE2	NM_182914.2(SYNE2):c.2026A>G:p.Lys676Glu	coding	Benign
14	63983805	A	G	A63983805G	SYNE2	NM_182914.2(SYNE2):c.2070A>G:p.Leu690=	coding	Benign
14	63990506	C	A	C63990506A	SYNE2	NM_182914.2(SYNE2):c.2409C>A:p.Ser803=	coding	Benign
14	63990956	A	G	A63990956G	SYNE2	NM_182914.2(SYNE2):c.2487A>G:p.Lys829=	coding	Benign
14	63990962	T	G	T63990962G	SYNE2	NM_182914.3(SYNE2):c.2493T>G:p.Ile831Met	coding	Benign
14	63991029	C	G	C63991029G	SYNE2	NM_182914.2(SYNE2):c.2560C>G:p.Gln854Glu	coding	Benign/Likely_benign
14	63995065	T	C	T63995065C	SYNE2	NM_182914.2(SYNE2):c.2803T>C:p.Leu935=	coding	Benign
14	63995165	G	A	G63995165A	SYNE2	NM_182914.2(SYNE2):c.2903G>A:p.Arg968His	coding	Benign/Likely_benign
14	63995196	A	G	A63995196G	SYNE2	NM_182914.2(SYNE2):c.2934A>G:p.Glu978=	coding	Benign
14	63996966	G	A	G63996966A	SYNE2	NM_182914.2(SYNE2):c.2960G>A:p.Gly987Asp	coding	Benign
14	63997060	A	C	A63997060C	SYNE2	NM_182914.2(SYNE2):c.3054A>C:p.Leu1018=	coding	Benign
14	63998293	G	A	G63998293A	SYNE2	NM_182914.2(SYNE2):c.3318G>A:p.Lys1106=	coding	Benign
14	63998301	G	A	G63998301A	SYNE2	NM_182914.2(SYNE2):c.3326G>A:p.Ser1109Asn	coding	Benign/Likely_benign
14	64000640	A	C	A64000640C	SYNE2	NM_182914.2(SYNE2):c.3559A>C:p.Ile1187Leu	coding	Benign
14	64002062	G	A	G64002062A	SYNE2	NM_182914.2(SYNE2):c.3767G>A:p.Arg1256His	coding	Benign
14	64002923	G	A	G64002923A	SYNE2	NM_182914.2(SYNE2):c.3990G>A:p.Ala1330=	coding	Benign
14	64003003	C	T	C64003003T	SYNE2	NM_182914.2(SYNE2):c.4070C>T:p.Thr1357Met	coding	Benign
14	64003110	C	T	C64003110T	SYNE2	NM_182914.2(SYNE2):c.4177C>T:p.Arg1393Trp	coding	Benign
14	64003219	T	C	T64003219C	SYNE2	NM_182914.2(SYNE2):c.4286T>C:p.Leu1429Pro	coding	Benign/Likely_benign
14	64007166	A	G	A64007166G	SYNE2	NM_182914.2(SYNE2):c.4521A>G:p.Gln1507=	coding	Benign
14	64007181	A	G	A64007181G	SYNE2	NM_182914.2(SYNE2):c.4536A>G:p.Thr1512=	coding	Benign
14	64009962	T	A	T64009962A	SYNE2	NM_182914.2(SYNE2):c.4578-4T>A	noncoding	Benign
14	64010002	A	G	A64010002G	SYNE2	NM_182914.2(SYNE2):c.4614A>G:p.Lys1538=	coding	Benign
14	64016529	C	A	C64016529A	SYNE2	NM_182914.2(SYNE2):c.4785C>A:p.Asn1595Lys	coding	Benign/Likely_benign
14	64016586	C	T	C64016586T	SYNE2	NM_182914.2(SYNE2):c.4842C>T:p.Pro1614=	coding	Benign
14	64017727	T	C	T64017727C	SYNE2	NM_182914.2(SYNE2):c.5020T>C:p.Leu1674=	coding	Benign/Likely_benign
14	64021319	T	C	T64021319C	SYNE2	NM_182914.2(SYNE2):c.5156T>C:p.Met1719Thr	coding	Benign
14	64021350	T	A	T64021350A	SYNE2	NM_182914.2(SYNE2):c.5187T>A:p.His1729Gln	coding	Benign
14	64021899	T	C	T64021899C	SYNE2	NM_182914.2(SYNE2):c.5395T>C:p.Leu1799=	coding	Benign/Likely_benign
14	64021955	A	G	A64021955G	SYNE2	NM_182914.2(SYNE2):c.5451A>G:p.Gln1817=	coding	Benign
14	64022021	A	T	A64022021T	SYNE2	NM_182914.2(SYNE2):c.5517A>T:p.Leu1839Phe	coding	Benign
14	64022760	A	G	A64022760G	SYNE2	NM_182914.2(SYNE2):c.5534A>G:p.Lys1845Arg	coding	Benign
14	64022834	A	C	A64022834C	SYNE2	NM_182914.2(SYNE2):c.5608A>C:p.Ser1870Arg	coding	Benign
14	64022875	A	G	A64022875G	SYNE2	NM_182914.2(SYNE2):c.5637+12A>G	noncoding	Benign
14	64022876	T	A	T64022876A	SYNE2	NM_182914.2(SYNE2):c.5637+13T>A	noncoding	Benign
14	64024964	A	G	A64024964G	SYNE2	NM_182914.2(SYNE2):c.5893A>G:p.Lys1965Glu	coding	Benign/Likely_benign
14	64024977	T	C	T64024977C	SYNE2	NM_182914.2(SYNE2):c.5906T>C:p.Met1969Thr	coding	Benign
14	64025156	T	C	T64025156C	SYNE2	NM_182914.2(SYNE2):c.5987T>C:p.Leu1996Ser	coding	Benign
14	64025240	C	T	C64025240T	SYNE2	NM_182914.2(SYNE2):c.6071C>T:p.Thr2024Ile	coding	Benign/Likely_benign
14	64026647	C	T	C64026647T	SYNE2	NM_182914.2(SYNE2):c.6321C>T:p.Ser2107=	coding	Benign
14	64027560	C	T	C64027560T	SYNE2	NM_182914.2(SYNE2):c.6481C>T:p.Leu2161=	coding	Benign
14	64027683	T	A	T64027683A	SYNE2	NM_182914.2(SYNE2):c.6604T>A:p.Leu2202Ile	coding	Benign
14	64027743	C	G	C64027743G	SYNE2	NM_182914.2(SYNE2):c.6664C>G:p.Pro2222Ala	coding	Benign
14	64027769	C	T	C64027769T	SYNE2	NM_182914.2(SYNE2):c.6690C>T:p.His2230=	coding	Benign
14	64027796	G	A	G64027796A	SYNE2	NM_182914.2(SYNE2):c.6714+3G>A	noncoding	Benign/Likely_benign
14	64027799	G	T	G64027799T	SYNE2	NM_182914.2(SYNE2):c.6714+6G>T	noncoding	Benign/Likely_benign
14	64029916	G	A	G64029916A	SYNE2	NM_182914.2(SYNE2):c.6736G>A:p.Gly2246Ser	coding	Benign/Likely_benign
14	64029952	G	A	G64029952A	SYNE2	NM_182914.2(SYNE2):c.6772G>A:p.Val2258Ile	coding	Benign/Likely_benign
14	64030031	C	T	C64030031T	SYNE2	NM_182914.2(SYNE2):c.6851C>T:p.Ala2284Val	coding	Benign
14	64030045	T	C	T64030045C	SYNE2	NM_182914.2(SYNE2):c.6865T>C:p.Leu2289=	coding	Benign
14	64031011	C	T	C64031011T	SYNE2	NM_182914.2(SYNE2):c.6880-5C>T	noncoding	Benign/Likely_benign
14	64031146	G	A	G64031146A	SYNE2	NM_182914.2(SYNE2):c.7010G>A:p.Cys2337Tyr	coding	Benign
14	64031176	C	A	C64031176A	SYNE2	NM_182914.2(SYNE2):c.7040C>A:p.Ala2347Glu	coding	Benign
14	64031211	A	G	A64031211G	SYNE2	NM_182914.2(SYNE2):c.7075A>G:p.Ser2359Gly	coding	Benign
14	64031212	G	A	G64031212A	SYNE2	NM_182914.2(SYNE2):c.7076G>A:p.Ser2359Asn	coding	Benign
14	64031232	T	C	T64031232C	SYNE2	NM_182914.2(SYNE2):c.7096T>C:p.Ser2366Pro	coding	Benign
14	64031260	T	C	T64031260C	SYNE2	NM_182914.2(SYNE2):c.7124T>C:p.Leu2375Pro	coding	Benign
14	64031264	A	G	A64031264G	SYNE2	NM_182914.2(SYNE2):c.7128A>G:p.Pro2376=	coding	Benign
14	64031298	G	A	G64031298A	SYNE2	NM_182914.2(SYNE2):c.7162G>A:p.Glu2388Lys	coding	Benign
14	64031299	A	G	A64031299G	SYNE2	NM_182914.2(SYNE2):c.7163A>G:p.Glu2388Gly	coding	Benign/Likely_benign
14	64031319	G	A	G64031319A	SYNE2	NM_182914.2(SYNE2):c.7183G>A:p.Ala2395Thr	coding	Benign
14	64049700	G	C	G64049700C	SYNE2	NM_182914.2(SYNE2):c.7467G>C:p.Leu2489Phe	coding	Benign
14	64049702	T	G	T64049702G	SYNE2	NM_182914.2(SYNE2):c.7469T>G:p.Val2490Gly	coding	Benign
14	64049720	A	G	A64049720G	SYNE2	NM_182914.3(SYNE2):c.7487A>G:p.Tyr2496Cys	coding	Benign
14	64049839	A	G	A64049839G	SYNE2	NM_182914.2(SYNE2):c.7606A>G:p.Met2536Val	coding	Benign
14	64049885	A	G	A64049885G	SYNE2	NM_182914.2(SYNE2):c.7643+9A>G	noncoding	Benign
14	64051603	A	G	A64051603G	SYNE2	NM_182914.2(SYNE2):c.7690A>G:p.Ile2564Val	coding	Benign
14	64051785	A	C	A64051785C	SYNE2	NM_182914.2(SYNE2):c.7872A>C:p.Glu2624Asp	coding	Benign/Likely_benign
14	64051811	A	G	A64051811G	SYNE2	NM_182914.2(SYNE2):c.7898A>G:p.Asn2633Ser	coding	Benign
14	64051954	G	A	G64051954A	SYNE2	NM_182914.2(SYNE2):c.8041G>A:p.Val2681Ile	coding	Benign
14	64052317	A	G	A64052317G	SYNE2	NM_182914.2(SYNE2):c.8404A>G:p.Ser2802Gly	coding	Benign
14	64052335	C	T	C64052335T	SYNE2	NM_182914.2(SYNE2):c.8422C>T:p.Leu2808=	coding	Benign
14	64052480	T	G	T64052480G	SYNE2	NM_182914.3(SYNE2):c.8567T>G:p.Leu2856Arg	coding	Benign
14	64052510	C	T	C64052510T	SYNE2	NM_182914.2(SYNE2):c.8597C>T:p.Thr2866Met	coding	Benign
14	64052674	A	C	A64052674C	SYNE2	NM_182914.2(SYNE2):c.8761A>C:p.Lys2921Gln	coding	Benign/Likely_benign
14	64052737	A	G	A64052737G	SYNE2	NM_182914.2(SYNE2):c.8824A>G:p.Ile2942Val	coding	Benign
14	64052803	C	T	C64052803T	SYNE2	NM_182914.3(SYNE2):c.8890C>T:p.Arg2964Cys	coding	Benign
14	64052936	T	C	T64052936C	SYNE2	NM_182914.2(SYNE2):c.9023T>C:p.Ile3008Thr	coding	Benign
14	64052991	A	T	A64052991T	SYNE2	NM_182914.2(SYNE2):c.9078A>T:p.Glu3026Asp	coding	Benign
14	64053062	C	G	C64053062G	SYNE2	NM_182914.3(SYNE2):c.9149C>G:p.Ala3050Gly	coding	Benign
14	64053260	A	G	A64053260G	SYNE2	NM_182914.2(SYNE2):c.9347A>G:p.Lys3116Arg	coding	Benign
14	64053279	A	G	A64053279G	SYNE2	NM_182914.2(SYNE2):c.9366A>G:p.Gln3122=	coding	Benign
14	64053302	A	G	A64053302G	SYNE2	NM_182914.2(SYNE2):c.9389A>G:p.Asn3130Ser	coding	Benign
14	64053309	G	C	G64053309C	SYNE2	NM_182914.2(SYNE2):c.9396G>C:p.Lys3132Asn	coding	Benign
14	64053415	A	G	A64053415G	SYNE2	NM_182914.2(SYNE2):c.9502A>G:p.Ile3168Val	coding	Benign
14	64055956	G	C	G64055956C	SYNE2	NM_182914.2(SYNE2):c.9757G>C:p.Asp3253His	coding	Benign
14	64056125	A	G	A64056125G	SYNE2	NM_182914.2(SYNE2):c.9926A>G:p.His3309Arg	coding	Benign
14	64056173	C	T	C64056173T	SYNE2	NM_182914.2(SYNE2):c.9974C>T:p.Ala3325Val	coding	Benign
14	64056259	G	A	G64056259A	SYNE2	NM_182914.3(SYNE2):c.10060G>A:p.Ala3354Thr	coding	Benign
14	64062879	G	A	G64062879A	SYNE2	NM_182914.2(SYNE2):c.10196G>A:p.Arg3399His	coding	Benign
14	64065488	C	G	C64065488G	SYNE2	NM_182914.2(SYNE2):c.10269C>G:p.Ile3423Met	coding	Benign
14	64070628	T	G	T64070628G	SYNE2	NM_182914.3(SYNE2):c.10432-17T>G	noncoding	Benign
14	64070723	A	G	A64070723G	SYNE2	NM_182914.2(SYNE2):c.10510A>G:p.Thr3504Ala	coding	Benign
14	64070780	A	C	A64070780C	SYNE2	NM_182914.2(SYNE2):c.10567A>C:p.Lys3523Gln	coding	Benign
14	64070795	C	G	C64070795G	SYNE2	NM_182914.2(SYNE2):c.10582C>G:p.Leu3528Val	coding	Benign
14	64074105	A	G	A64074105G	SYNE2	NM_182914.2(SYNE2):c.10835A>G:p.Gln3612Arg	coding	Benign
14	64078504	A	G	A64078504G	SYNE2	NM_182914.2(SYNE2):c.11061A>G:p.Ala3687=	coding	Benign/Likely_benign
14	64080479	A	G	A64080479G	SYNE2	NM_182914.2(SYNE2):c.11187A>G:p.Leu3729=	coding	Benign
14	64081475	T	C	T64081475C	SYNE2	NM_182914.2(SYNE2):c.11379T>C:p.Leu3793=	coding	Benign
14	64081481	G	A	G64081481A	SYNE2	NM_182914.2(SYNE2):c.11385G>A:p.Lys3795=	coding	Benign
14	64087716	A	G	A64087716G	SYNE2	NM_182914.2(SYNE2):c.11530A>G:p.Ile3844Val	coding	Benign/Likely_benign
14	64087799	A	G	A64087799G	SYNE2	NM_182914.2(SYNE2):c.11613A>G:p.Val3871=	coding	Benign
14	64089570	C	A	C64089570A	SYNE2	NM_182914.2(SYNE2):c.11671-4C>A	noncoding	Benign
14	64091007	C	G	C64091007G	SYNE2	NM_182914.2(SYNE2):c.11935C>G:p.Leu3979Val	coding	Benign
14	64091016	A	C	A64091016C	SYNE2	NM_182914.2(SYNE2):c.11944A>C:p.Asn3982His	coding	Benign
14	64091016	A	G	A64091016G	SYNE2	NM_182914.2(SYNE2):c.11944A>G:p.Asn3982Asp	coding	Benign/Likely_benign
14	64093373	T	C	T64093373C	SYNE2	NM_182914.2(SYNE2):c.12001T>C:p.Trp4001Arg	coding	Benign
14	64093374	G	A	G64093374A	SYNE2	NM_182914.2(SYNE2):c.12002G>A:p.Trp4001Ter	coding	Benign
14	64093415	T	C	T64093415C	SYNE2	NM_182914.2(SYNE2):c.12043T>C:p.Tyr4015His	coding	Benign
14	64097961	C	T	C64097961T	SYNE2	NM_182914.2(SYNE2):c.12121C>T:p.Arg4041Cys	coding	Benign/Likely_benign
14	64097962	G	A	G64097962A	SYNE2	NM_182914.2(SYNE2):c.12122G>A:p.Arg4041His	coding	Benign/Likely_benign
14	64097991	C	G	C64097991G	SYNE2	NM_182914.2(SYNE2):c.12151C>G:p.Gln4051Glu	coding	Benign
14	64098030	G	A	G64098030A	SYNE2	NM_182914.2(SYNE2):c.12190G>A:p.Val4064Ile	coding	Benign
14	64098818	C	T	C64098818T	SYNE2	NM_182914.2(SYNE2):c.12378C>T:p.Ser4126=	coding	Benign
14	64101918	G	T	G64101918T	SYNE2	NM_182914.2(SYNE2):c.12382-14G>T	noncoding	Benign
14	64102054	C	T	C64102054T	SYNE2	NM_182914.2(SYNE2):c.12492+12C>T	noncoding	Benign
14	64107570	G	A	G64107570A	SYNE2	NM_182914.2(SYNE2):c.12572G>A:p.Gly4191Asp	coding	Benign/Likely_benign
14	64107594	A	G	A64107594G	SYNE2	NM_182914.2(SYNE2):c.12596A>G:p.Asn4199Ser	coding	Benign
14	64113343	C	T	C64113343T	SYNE2	NM_182914.2(SYNE2):c.12612C>T:p.Gly4204=	coding	Benign
14	64113357	T	C	T64113357C	SYNE2	NM_182914.2(SYNE2):c.12626T>C:p.Ile4209Thr	coding	Benign
14	64113502	G	A	G64113502A	SYNE2	NM_182914.2(SYNE2):c.12771G>A:p.Val4257=	coding	Benign
14	64113579	T	C	T64113579C	SYNE2	NM_182914.2(SYNE2):c.12840+8T>C	noncoding	Benign
14	64119517	G	A	G64119517A	SYNE2	NM_182914.2(SYNE2):c.12931G>A:p.Glu4311Lys	coding	Benign
14	64119570	A	G	A64119570G	SYNE2	NM_182914.2(SYNE2):c.12984A>G:p.Lys4328=	coding	Benign
14	64120968	A	G	A64120968G	SYNE2	NM_182914.2(SYNE2):c.13065A>G:p.Gln4355=	coding	Benign
14	64122107	C	A	C64122107A	SYNE2	NM_182914.2(SYNE2):c.13254C>A:p.Asn4418Lys	coding	Benign
14	64122119	G	A	G64122119A	SYNE2	NM_182914.2(SYNE2):c.13266G>A:p.Gln4422=	coding	Benign
14	64122136	A	G	A64122136G	SYNE2	NM_182914.2(SYNE2):c.13280+3A>G	noncoding	Benign
14	64125072	C	G	C64125072G	SYNE2	NM_182914.2(SYNE2):c.13423-7C>G	noncoding	Benign
14	64126461	C	T	C64126461T	SYNE2	NM_182914.2(SYNE2):c.13689C>T:p.Gly4563=	coding	Benign
14	64126489	T	C	T64126489C	SYNE2	NM_182914.2(SYNE2):c.13707+10T>C	noncoding	Benign
14	64126584	C	A	C64126584A	SYNE2	NM_182914.2(SYNE2):c.13708-14C>A	noncoding	Benign
14	64126740	C	T	C64126740T	SYNE2	NM_182914.2(SYNE2):c.13850C>T:p.Thr4617Ile	coding	Benign/Likely_benign
14	64128442	T	C	T64128442C	SYNE2	NM_182914.2(SYNE2):c.13918-10T>C	noncoding	Benign
14	64129767	T	C	T64129767C	SYNE2	NM_182914.3(SYNE2):c.14020-15T>C	noncoding	Benign
14	64129819	A	G	A64129819G	SYNE2	NM_182914.2(SYNE2):c.14057A>G:p.Glu4686Gly	coding	Benign
14	64130105	C	A	C64130105A	SYNE2	NM_182914.2(SYNE2):c.14197C>A:p.Pro4733Thr	coding	Benign
14	64130111	G	A	G64130111A	SYNE2	NM_182914.2(SYNE2):c.14203G>A:p.Val4735Ile	coding	Benign
14	64130259	C	T	C64130259T	SYNE2	NM_182914.2(SYNE2):c.14340+11C>T	noncoding	Benign
14	64132354	A	G	A64132354G	SYNE2	NM_182914.2(SYNE2):c.14430A>G:p.Thr4810=	coding	Benign
14	64137816	C	T	C64137816T	SYNE2	NM_182914.3(SYNE2):c.14676C>T:p.His4892=	coding	Benign
14	64137860	C	T	C64137860T	SYNE2	NM_182914.2(SYNE2):c.14720C>T:p.Ala4907Val	coding	Benign
14	64137874	C	G	C64137874G	SYNE2	NM_182914.2(SYNE2):c.14734C>G:p.Pro4912Ala	coding	Benign
14	64137877	G	A	G64137877A	SYNE2	NM_182914.2(SYNE2):c.14737G>A:p.Glu4913Lys	coding	Benign
14	64137916	T	C	T64137916C	SYNE2	NM_182914.2(SYNE2):c.14776T>C:p.Leu4926=	coding	Benign
14	64137932	A	G	A64137932G	SYNE2	NM_182914.2(SYNE2):c.14792A>G:p.Lys4931Arg	coding	Benign/Likely_benign
14	64139936	G	C	G64139936C	SYNE2	NM_182914.2(SYNE2):c.14844-5G>C	noncoding	Benign
14	64140038	T	C	T64140038C	SYNE2	NM_182914.2(SYNE2):c.14941T>C:p.Leu4981=	coding	Benign
14	64140083	A	G	A64140083G	SYNE2	NM_182914.2(SYNE2):c.14976+10A>G	noncoding	Benign/Likely_benign
14	64141348	C	T	C64141348T	SYNE2	NM_182914.3(SYNE2):c.14984C>T:p.Ser4995Leu	coding	Benign
14	64141370	C	T	C64141370T	SYNE2	NM_182914.2(SYNE2):c.15006C>T:p.Ser5002=	coding	Benign/Likely_benign
14	64141962	G	A	G64141962A	SYNE2	NM_182914.2(SYNE2):c.15180G>A:p.Pro5060=	coding	Benign
14	64142000	A	G	A64142000G	SYNE2	NM_182914.2(SYNE2):c.15218A>G:p.Asn5073Ser	coding	Benign/Likely_benign
14	64142030	A	G	A64142030G	SYNE2	NM_182914.2(SYNE2):c.15248A>G:p.Asp5083Gly	coding	Benign/Likely_benign
14	64142034	C	T	C64142034T	SYNE2	NM_182914.2(SYNE2):c.15252C>T:p.Ser5084=	coding	Benign
14	64142035	G	A	G64142035A	SYNE2	NM_182914.3(SYNE2):c.15253G>A:p.Val5085Met	coding	Benign
14	64142038	C	T	C64142038T	SYNE2	NM_182914.2(SYNE2):c.15256C>T:p.His5086Tyr	coding	Benign
14	64146127	C	T	C64146127T	SYNE2	NM_182914.2(SYNE2):c.15543C>T:p.Ile5181=	coding	Benign
14	64146140	C	A	C64146140A	SYNE2	NM_182914.2(SYNE2):c.15556C>A:p.Leu5186Met	coding	Benign
14	64152644	A	C	A64152644C	SYNE2	NM_182914.2(SYNE2):c.15720A>C:p.Ala5240=	coding	Benign
14	64152705	G	A	G64152705A	SYNE2	NM_182914.2(SYNE2):c.15781G>A:p.Val5261Ile	coding	Benign/Likely_benign
14	64158626	T	C	T64158626C	SYNE2	NM_182914.2(SYNE2):c.15794T>C:p.Val5265Ala	coding	Benign
14	64158654	A	T	A64158654T	SYNE2	NM_182914.2(SYNE2):c.15822A>T:p.Ser5274=	coding	Benign
14	64158753	G	T	G64158753T	SYNE2	NM_182914.2(SYNE2):c.15921G>T:p.Val5307=	coding	Benign
14	64159413	C	A	C64159413A	SYNE2	NM_182914.2(SYNE2):c.16065C>A:p.Ile5355=	coding	Benign
14	64162062	G	A	G64162062A	SYNE2	NM_182914.2(SYNE2):c.16095-10G>A	noncoding	Benign/Likely_benign
14	64162133	C	T	C64162133T	SYNE2	NM_182914.2(SYNE2):c.16156C>T:p.Leu5386Phe	coding	Benign/Likely_benign
14	64162155	C	T	C64162155T	SYNE2	NM_182914.2(SYNE2):c.16178C>T:p.Ala5393Val	coding	Benign/Likely_benign
14	64163407	G	A	G64163407A	SYNE2	NM_182914.2(SYNE2):c.16305G>A:p.Leu5435=	coding	Benign
14	64163476	A	T	A64163476T	SYNE2	NM_182914.2(SYNE2):c.16374A>T:p.Gln5458His	coding	Benign/Likely_benign
14	64163512	C	G	C64163512G	SYNE2	NM_182914.2(SYNE2):c.16410C>G:p.Gly5470=	coding	Benign/Likely_benign
14	64163521	C	T	C64163521T	SYNE2	NM_182914.2(SYNE2):c.16419C>T:p.His5473=	coding	Benign
14	64163522	T	A	T64163522A	SYNE2	NM_182914.2(SYNE2):c.16420T>A:p.Ser5474Thr	coding	Benign
14	64163596	T	G	T64163596G	SYNE2	NM_182914.2(SYNE2):c.16479+15T>G	noncoding	Benign
14	64165327	T	A	T64165327A	SYNE2	NM_182914.2(SYNE2):c.16522T>A:p.Ser5508Thr	coding	Benign
14	64167266	G	A	G64167266A	SYNE2	NM_182914.2(SYNE2):c.16639G>A:p.Asp5547Asn	coding	Benign
14	64167349	A	G	A64167349G	SYNE2	NM_182914.2(SYNE2):c.16722A>G:p.Gln5574=	coding	Benign
14	64168956	C	T	C64168956T	SYNE2	NM_182914.3(SYNE2):c.16985C>T:p.Thr5662Ile	coding	Benign
14	64170260	C	T	C64170260T	SYNE2	NM_182914.2(SYNE2):c.17033C>T:p.Thr5678Met	coding	Benign/Likely_benign
14	64170429	C	A	C64170429A	SYNE2	NM_182914.2(SYNE2):c.17202C>A:p.Leu5734=	coding	Benign
14	64175096	C	T	C64175096T	SYNE2	NM_182914.2(SYNE2):c.17388C>T:p.Pro5796=	coding	Benign
14	64177371	G	A	G64177371A	SYNE2	NM_182914.2(SYNE2):c.17444G>A:p.Cys5815Tyr	coding	Benign
14	64177487	T	C	T64177487C	SYNE2	NM_182914.2(SYNE2):c.17556+4T>C	noncoding	Benign
14	64186428	T	C	T64186428C	SYNE2	NM_182914.2(SYNE2):c.17561T>C:p.Leu5854Pro	coding	Benign/Likely_benign
14	64190091	C	T	C64190091T	SYNE2	NM_182914.2(SYNE2):c.17892C>T:p.Asn5964=	coding	Benign
14	64190137	T	C	T64190137C	SYNE2	NM_182914.2(SYNE2):c.17938T>C:p.Leu5980=	coding	Benign
14	64190236	A	C	A64190236C	SYNE2	NM_182914.2(SYNE2):c.18037A>C:p.Arg6013=	coding	Benign/Likely_benign
14	64202796	T	A	T64202796A	SYNE2	NM_182914.2(SYNE2):c.18039-5T>A	noncoding	Benign/Likely_benign
14	64209467	C	T	C64209467T	SYNE2	NM_182914.2(SYNE2):c.18429C>T:p.Asp6143=	coding	Benign/Likely_benign
14	64209996	C	G	C64209996G	SYNE2	NM_182914.2(SYNE2):c.18595C>G:p.Gln6199Glu	coding	Benign
14	64210132	C	T	C64210132T	SYNE2	NM_182914.2(SYNE2):c.18723+8C>T	noncoding	Benign/Likely_benign
14	64214225	A	G	A64214225G	SYNE2	NM_182914.2(SYNE2):c.19088A>G:p.Asn6363Ser	coding	Benign
14	64214272	C	T	C64214272T	SYNE2	NM_182914.2(SYNE2):c.19135C>T:p.Arg6379Cys	coding	Benign/Likely_benign
14	64214322	T	C	T64214322C	SYNE2	NM_182914.2(SYNE2):c.19185T>C:p.His6395=	coding	Benign
14	64214385	C	G	C64214385G	SYNE2	NM_182914.2(SYNE2):c.19248C>G:p.Pro6416=	coding	Benign/Likely_benign
14	64214475	C	T	C64214475T	SYNE2	NM_182914.2(SYNE2):c.19333+5C>T	noncoding	Benign
14	64214477	G	A	G64214477A	SYNE2	NM_182914.3(SYNE2):c.19333+7G>A	noncoding	Benign
14	64216260	C	T	C64216260T	SYNE2	NM_182914.2(SYNE2):c.19415C>T:p.Ser6472Leu	coding	Benign/Likely_benign
14	64216262	G	C	G64216262C	SYNE2	NM_182914.2(SYNE2):c.19417G>C:p.Asp6473His	coding	Benign/Likely_benign
14	64216303	C	T	C64216303T	SYNE2	NM_182914.2(SYNE2):c.19458C>T:p.Pro6486=	coding	Benign
14	64218436	A	C	A64218436C	SYNE2	NM_182914.2(SYNE2):c.19581A>C:p.Lys6527Asn	coding	Benign
14	64218494	A	G	A64218494G	SYNE2	NM_182914.2(SYNE2):c.19639A>G:p.Ile6547Val	coding	Benign
14	64219407	G	T	G64219407T	SYNE2	NM_182914.2(SYNE2):c.19857G>T:p.Leu6619=	coding	Benign
14	64220424	C	G	C64220424G	SYNE2	NM_182914.3(SYNE2):c.19861-13C>G	noncoding	Benign
14	64220443	C	T	C64220443T	SYNE2	NM_182914.2(SYNE2):c.19867C>T:p.Leu6623=	coding	Benign
14	64220538	C	G	C64220538G	SYNE2	NM_182914.2(SYNE2):c.19962C>G:p.Leu6654=	coding	Benign
14	64220551	C	T	C64220551T	SYNE2	NM_182914.3(SYNE2):c.19975C>T:p.Arg6659Cys	coding	Benign
14	64220587	G	A	G64220587A	SYNE2	NM_182914.2(SYNE2):c.20011G>A:p.Ala6671Thr	coding	Benign/Likely_benign
14	64220641	C	T	C64220641T	SYNE2	NM_182914.2(SYNE2):c.20061+4C>T	noncoding	Benign/Likely_benign
14	64221457	G	C	G64221457C	SYNE2	NM_182914.2(SYNE2):c.20062-119G>C	noncoding	Benign
14	64221617	G	A	G64221617A	SYNE2	NM_182914.2(SYNE2):c.20103G>A:p.Ala6701=	coding	Benign
14	64221631	G	A	G64221631A	SYNE2	NM_182914.2(SYNE2):c.20117G>A:p.Arg6706Gln	coding	Benign
14	64221672	C	T	C64221672T	SYNE2	NM_182914.2(SYNE2):c.20158C>T:p.Arg6720Trp	coding	Benign/Likely_benign
14	64221718	C	T	C64221718T	SYNE2	NM_182914.3(SYNE2):c.20190+14C>T	noncoding	Benign
14	64223195	G	A	G64223195A	SYNE2	NM_182914.2(SYNE2):c.20197G>A:p.Glu6733Lys	coding	Benign
14	64223284	T	C	T64223284C	SYNE2	NM_182914.2(SYNE2):c.20286T>C:p.Cys6762=	coding	Benign
14	64223337	G	A	G64223337A	SYNE2	NM_182914.2(SYNE2):c.20339G>A:p.Arg6780Gln	coding	Benign/Likely_benign
14	64223389	A	G	A64223389G	SYNE2	NM_182914.2(SYNE2):c.20382+9A>G	noncoding	Benign
14	64224448	G	A	G64224448A	SYNE2	NM_182914.2(SYNE2):c.20383-13G>A	noncoding	Benign
14	64224452	G	A	G64224452A	SYNE2	NM_182914.2(SYNE2):c.20383-9G>A	noncoding	Benign/Likely_benign
14	64224488	G	A	G64224488A	SYNE2	NM_182914.2(SYNE2):c.20410G>A:p.Asp6804Asn	coding	Benign/Likely_benign
14	64224502	G	A	G64224502A	SYNE2	NM_182914.2(SYNE2):c.20424G>A:p.Ser6808=	coding	Benign
14	64224540	G	A	G64224540A	SYNE2	NM_182914.2(SYNE2):c.20462G>A:p.Arg6821Gln	coding	Benign
14	64225026	G	A	G64225026A	SYNE2	NM_182914.2(SYNE2):c.20497G>A:p.Glu6833Lys	coding	Benign
14	64225338	C	T	C64225338T	SYNE2	NM_182914.2(SYNE2):c.20536C>T:p.Pro6846Ser	coding	Benign/Likely_benign
14	64225349	C	T	C64225349T	SYNE2	NM_182914.2(SYNE2):c.20547C>T:p.Ser6849=	coding	Benign/Likely_benign
14	64225398	C	T	C64225398T	SYNE2	NM_182914.2(SYNE2):c.20596C>T:p.Leu6866=	coding	Benign/Likely_benign
14	64225629	G	A	G64225629A	SYNE2	NM_182914.2(SYNE2):c.*103G>A	noncoding	Benign
14	64225659	C	A	C64225659A	SYNE2	NM_182914.2(SYNE2):c.*133C>A	noncoding	Benign
14	64225747	T	C	T64225747C	SYNE2	NM_182914.2(SYNE2):c.*221T>C	noncoding	Benign
14	64225826	G	A	G64225826A	SYNE2	NM_182914.3(SYNE2):c.*300G>A	noncoding	Benign
14	64225912	G	C	G64225912C	SYNE2	NM_182914.2(SYNE2):c.*386G>C	noncoding	Benign
14	64225987	C	T	C64225987T	SYNE2	NM_182914.3(SYNE2):c.*461C>T	noncoding	Benign
14	64226033	C	A	C64226033A	SYNE2	NM_182914.2(SYNE2):c.*507C>A	noncoding	Benign
14	64226107	G	A	G64226107A	SYNE2	NM_182914.2(SYNE2):c.*581G>A	noncoding	Benign
14	64226187	T	A	T64226187A	SYNE2	NM_182914.2(SYNE2):c.*661T>A	noncoding	Benign
14	64226188	T	A	T64226188A	SYNE2	NM_182914.2(SYNE2):c.*662T>A	noncoding	Benign
14	64226189	A	T	A64226189T	SYNE2	NM_182914.2(SYNE2):c.*663A>T	noncoding	Benign
14	64226222	A	G	A64226222G	SYNE2	NM_182914.2(SYNE2):c.*696A>G	noncoding	Benign
14	64226246	C	T	C64226246T	SYNE2	NM_182914.2(SYNE2):c.*720C>T	noncoding	Benign
14	64226353	G	A	G64226353A	SYNE2	NM_182914.2(SYNE2):c.*827G>A	noncoding	Benign
14	64235053	A	G	A64235053G	ESR2	NM_001040275.1(ESR2):c.1323T>C:p.Ile441=	coding	Benign
14	64249595	G	C	G64249595C	ESR2	NM_001040275.1(ESR2):c.1176C>G:p.Leu392=	coding	Benign
14	64257306	C	T	C64257306T	ESR2	NM_001040275.1(ESR2):c.1011G>A:p.Glu337=	coding	Benign
14	64260460	T	C	T64260460C	ESR2	NM_001040275.1(ESR2):c.941A>G:p.Lys314Arg	coding	Pathogenic
14	64268817	G	A	G64268817A	ESR2	NM_001040275.1(ESR2):c.630C>T:p.Tyr210=	coding	Benign
14	64280048	T	A	T64280048A	ESR2	NM_001040275.1(ESR2):c.468A>T:p.Ala156=	coding	Benign
14	64282941	G	A	G64282941A	ESR2	NM_001040275.1(ESR2):c.45C>T:p.Ser15=	coding	Benign
14	64282979	T	C	T64282979C	ESR2	NM_001040275.1(ESR2):c.7A>G:p.Ile3Val	coding	Benign
14	64415662	A	G	A64415662G	MTHFD1	NM_005956.4(MTHFD1):c.401A>G:p.Lys134Arg	coding	Benign
14	64417901	C	T	C64417901T	MTHFD1	NM_005956.4(MTHFD1):c.492C>T:p.Ala164=	coding	Benign
14	64419871	G	T	G64419871T	MTHFD1	NM_005956.4(MTHFD1):c.673G>T:p.Glu225Ter	coding	Pathogenic
14	64419926	G	A	G64419926A	MTHFD1	NM_005956.4(MTHFD1):c.727+1G>A	coding	Pathogenic
14	64424902	G	C	G64424902C	MTHFD1	NM_005956.4(MTHFD1):c.826G>C:p.Gly276Arg	coding	Pathogenic
14	64425794	A	G	A64425794G	MTHFD1	NM_005956.4(MTHFD1):c.920A>G:p.Tyr307Cys	coding	Benign
14	64430238	A	G	A64430238G	MTHFD1	NM_005956.4(MTHFD1):c.1311+8A>G	noncoding	Benign
14	64435635	T	C	T64435635C	MTHFD1	NM_005956.4(MTHFD1):c.1561T>C:p.Leu521=	coding	Benign
14	64439172	G	A	G64439172A	MTHFD1	NM_005956.4(MTHFD1):c.1674G>A:p.Thr558=	coding	Pathogenic
14	64442127	G	A	G64442127A	MTHFD1	NM_005956.4(MTHFD1):c.1958G>A:p.Arg653Gln	coding	Benign
14	64449470	C	T	C64449470T	MTHFD1	NM_005956.4(MTHFD1):c.2305C>T:p.Leu769Phe	coding	Benign
14	64449480	G	A	G64449480A	MTHFD1	NM_005956.4(MTHFD1):c.2315G>A:p.Arg772His	coding	Benign
14	64454719	C	T	C64454719T	MTHFD1	NM_005956.4(MTHFD1):c.2566-4C>T	noncoding	Benign
14	64468957	G	A	G64468957A	AKAP5	NM_004857.3(AKAP5):c.563G>A:p.Arg188Gln	coding	Benign
14	64469334	G	A	G64469334A	AKAP5	NM_004857.3(AKAP5):c.940G>A:p.Glu314Lys	coding	Benign
14	64469568	T	C	T64469568C	AKAP5	NM_004857.3(AKAP5):c.1174T>C:p.Leu392=	coding	Benign
14	64541998	C	T	C64541998T	HSPA2	NM_021979.3(HSPA2):c.1149C>T:p.Leu383=	coding	Benign
14	64542508	G	A	G64542508A	HSPA2	NM_021979.3(HSPA2):c.1659G>A:p.Lys553=	coding	Benign
14	64542709	C	T	C64542709T	HSPA2	NM_021979.3(HSPA2):c.1860C>T:p.Gly620=	coding	Benign
14	64550943	T	A	T64550943A	PPP1R36	NM_172365.3(PPP1R36):c.92T>A:p.Met31Lys	coding	Benign
14	64564791	G	T	G64564791T	PPP1R36	NM_172365.3(PPP1R36):c.223G>T:p.Gly75Cys	coding	Benign
14	64589188	C	T	C64589188T	PPP1R36	NM_172365.3(PPP1R36):c.1119C>T:p.Asn373=	coding	Benign
14	64727991	C	T	C64727991T	PLEKHG3	NM_001308147.2(PLEKHG3):c.351+9C>T	noncoding	Benign
14	64730816	C	T	C64730816T	PLEKHG3	NM_001308147.2(PLEKHG3):c.584C>T:p.Thr195Met	coding	Benign
14	64731439	C	T	C64731439T	PLEKHG3	NM_001308147.2(PLEKHG3):c.928C>T:p.Arg310Cys	coding	Benign
14	64741195	A	G	A64741195G	PLEKHG3	NM_001308147.2(PLEKHG3):c.1678A>G:p.Met560Val	coding	Benign
14	64741327	G	A	G64741327A	PLEKHG3	NM_001308147.2(PLEKHG3):c.1810G>A:p.Val604Ile	coding	Benign
14	64742041	C	G	C64742041G	PLEKHG3	NM_001308147.2(PLEKHG3):c.2524C>G:p.Leu842Val	coding	Benign
14	64742208	G	A	G64742208A	PLEKHG3	NM_001308147.2(PLEKHG3):c.2691G>A:p.Gly897=	coding	Benign
14	64742301	G	A	G64742301A	PLEKHG3	NM_001308147.2(PLEKHG3):c.2784G>A:p.Gln928=	coding	Benign
14	64743191	G	A	G64743191A	PLEKHG3	NM_001308147.2(PLEKHG3):c.3148G>A:p.Val1050Ile	coding	Benign
14	64743639	C	T	C64743639T	PLEKHG3	NM_001308147.2(PLEKHG3):c.3596C>T:p.Pro1199Leu	coding	Benign
14	64749402	C	T	C64749402T	SPTB;PLEKHG3	NM_001308147.2(PLEKHG3):c.*5699C>T	coding	Benign
14	64753656	G	T	G64753656T	SPTB	NM_001355436.2(SPTB):c.6483C>A:p.Ser2161Arg	coding	Benign
14	64767290	G	A	G64767290A	SPTB	NM_001355436.2(SPTB):c.6269+13C>T	noncoding	Benign/Likely_benign
14	64767300	C	A	C64767300A	SPTB	NM_001355436.2(SPTB):c.6269+3G>T	noncoding	Pathogenic
14	64767691	C	G	C64767691G	SPTB	NM_001355436.2(SPTB):c.6191G>C:p.Arg2064Pro	coding	Pathogenic
14	64767725	C	G	C64767725G	SPTB	NM_001355436.2(SPTB):c.6157G>C:p.Ala2053Pro	coding	Pathogenic
14	64767787	A	G	A64767787G	SPTB	NM_001355436.2(SPTB):c.6095T>C:p.Leu2032Pro	coding	Pathogenic
14	64767829	G	C	G64767829C	SPTB	NM_001355436.2(SPTB):c.6053C>G:p.Ala2018Gly	coding	Pathogenic
14	64767867	G	A	G64767867A	SPTB	NM_001355436.2(SPTB):c.6023-8C>T	noncoding	Benign/Likely_benign
14	64769735	G	A	G64769735A	SPTB	NM_001355436.2(SPTB):c.5799-7C>T	noncoding	Benign/Likely_benign
14	64771060	G	A	G64771060A	SPTB	NM_001355436.2(SPTB):c.5623C>T:p.Gln1875Ter	coding	Pathogenic
14	64771132	G	A	G64771132A	SPTB	NM_001355436.2(SPTB):c.5554-3C>T	noncoding	Benign/Likely_benign
14	64772598	G	A	G64772598A	SPTB	NM_001355436.2(SPTB):c.5535C>T:p.Leu1845=	coding	Benign/Likely_benign
14	64772867	G	A	G64772867A	SPTB	NM_001355436.2(SPTB):c.5266C>T:p.Arg1756Ter	coding	Pathogenic
14	64774510	A	G	A64774510G	SPTB	NM_001355436.2(SPTB):c.4860T>C:p.Ile1620=	coding	Benign/Likely_benign
14	64775149	G	A	G64775149A	SPTB	NM_001355436.2(SPTB):c.4818C>T:p.Tyr1606=	coding	Benign/Likely_benign
14	64775188	T	C	T64775188C	SPTB	NM_001355436.2(SPTB):c.4779A>G:p.Ala1593=	coding	Benign/Likely_benign
14	64775215	G	A	G64775215A	SPTB	NM_001355436.2(SPTB):c.4752C>T:p.Asn1584=	coding	Benign/Likely_benign
14	64775326	C	T	C64775326T	SPTB	NM_001355436.2(SPTB):c.4641G>A:p.Ala1547=	coding	Benign/Likely_benign
14	64775349	T	G	T64775349G	SPTB	NM_001355436.2(SPTB):c.4618A>C:p.Arg1540=	coding	Benign/Likely_benign
14	64775407	C	T	C64775407T	SPTB	NM_001355436.2(SPTB):c.4564-4G>A	noncoding	Benign/Likely_benign
14	64779145	C	G	C64779145G	SPTB	NM_001355436.2(SPTB):c.4563+12G>C	noncoding	Benign/Likely_benign
14	64779238	C	T	C64779238T	SPTB	NM_001355436.2(SPTB):c.4482G>A:p.Val1494=	coding	Benign/Likely_benign
14	64779244	A	G	A64779244G	SPTB	NM_001355436.2(SPTB):c.4476T>C:p.Leu1492=	coding	Benign/Likely_benign
14	64779905	T	C	T64779905C	SPTB	NM_001355436.2(SPTB):c.4293A>G:p.Arg1431=	coding	Benign/Likely_benign
14	64779931	G	A	G64779931A	SPTB	NM_001355436.2(SPTB):c.4267C>T:p.Arg1423Ter	coding	Pathogenic
14	64782320	G	A	G64782320A	SPTB	NM_001355436.2(SPTB):c.4236C>T:p.Thr1412=	coding	Benign/Likely_benign
14	64782334	C	G	C64782334G	SPTB	NM_001355436.2(SPTB):c.4222G>C:p.Gly1408Arg	coding	Benign/Likely_benign
14	64782435	T	C	T64782435C	SPTB	NM_001355436.2(SPTB):c.4121A>G:p.His1374Arg	coding	Benign/Likely_benign
14	64782493	C	A	C64782493A	SPTB	NM_001355436.2(SPTB):c.4063G>T:p.Glu1355Ter	coding	Pathogenic
14	64782565	A	G	A64782565G	SPTB	NM_001355436.2(SPTB):c.4003-12T>C	noncoding	Benign/Likely_benign
14	64786514	T	C	T64786514C	SPTB	NM_001355436.2(SPTB):c.3451A>G:p.Asn1151Asp	coding	Benign/Likely_benign
14	64786837	C	T	C64786837T	SPTB	NM_001355436.2(SPTB):c.3128G>A:p.Trp1043Ter	coding	Pathogenic
14	64787031	C	T	C64787031T	SPTB	NM_001355436.2(SPTB):c.2934G>A:p.Glu978=	coding	Benign/Likely_benign
14	64787102	G	A	G64787102A	SPTB	NM_001355436.2(SPTB):c.2863C>T:p.Arg955Ter	coding	Pathogenic
14	64793101	G	A	G64793101A	SPTB	NM_001355436.2(SPTB):c.2562C>T:p.Phe854=	coding	Benign/Likely_benign
14	64793509	T	G	T64793509G	SPTB	NM_001355436.2(SPTB):c.2154A>C:p.Ile718=	coding	Benign/Likely_benign
14	64793825	C	A	C64793825A	SPTB	NM_001355436.2(SPTB):c.1838G>T:p.Ser613Ile	coding	Benign/Likely_benign
14	64794471	C	T	C64794471T	SPTB	NM_001355436.2(SPTB):c.1791G>A:p.Gly597=	coding	Benign
14	64796582	C	T	C64796582T	SPTB	NM_001355436.2(SPTB):c.1316G>A:p.Ser439Asn	coding	Benign/Likely_benign
14	64796629	C	T	C64796629T	SPTB	NM_001355436.2(SPTB):c.1269G>A:p.Leu423=	coding	Benign/Likely_benign
14	64799815	G	A	G64799815A	SPTB	NM_001355436.2(SPTB):c.996C>T:p.Asn332=	coding	Benign/Likely_benign
14	64800751	T	C	T64800751C	SPTB	NM_001355436.2(SPTB):c.876+5A>G	noncoding	Benign/Likely_benign
14	64801382	A	G	A64801382G	SPTB	NM_001355436.2(SPTB):c.666T>C:p.Phe222=	coding	Benign/Likely_benign
14	64801792	C	T	C64801792T	SPTB	NM_001355436.2(SPTB):c.609G>A:p.Lys203=	coding	Benign/Likely_benign
14	64801797	A	G	A64801797G	SPTB	NM_001355436.2(SPTB):c.604T>C:p.Trp202Arg	coding	Pathogenic
14	64803673	G	A	G64803673A	SPTB	NM_001355436.2(SPTB):c.408C>T:p.His136=	coding	Benign/Likely_benign
14	64804932	A	G	A64804932G	SPTB	NM_001355436.2(SPTB):c.300+7T>C	noncoding	Benign/Likely_benign
14	64805062	G	A	G64805062A	SPTB	NM_001355436.2(SPTB):c.177C>T:p.Thr59=	coding	Benign/Likely_benign
14	64823094	T	C	T64823094C	SPTB	NM_001355436.2(SPTB):c.1A>G:p.Met1Val	coding	Pathogenic
14	64924121	A	G	A64924121G	CHURC1	NM_145165.3(CHURC1):c.251A>G:p.Tyr84Cys	coding	Benign
14	65075349	C	G	C65075349G	MAX	NM_002382.5(MAX):c.*1127G>C	coding	Benign
14	65075353	T	G	T65075353G	MAX	NM_002382.5(MAX):c.*1123A>C	coding	Benign
14	65075759	A	G	A65075759G	MAX	NM_002382.5(MAX):c.*717T>C	coding	Benign
14	65075776	C	A	C65075776A	MAX	NM_002382.5(MAX):c.*700G>T	coding	Benign
14	65075860	G	A	G65075860A	MAX	NM_002382.5(MAX):c.*616C>T	coding	Benign
14	65075889	C	T	C65075889T	MAX	NM_002382.5(MAX):c.*587G>A	coding	Benign
14	65075911	C	T	C65075911T	MAX	NM_002382.5(MAX):c.*565G>A	coding	Benign
14	65076015	G	A	G65076015A	MAX	NM_002382.5(MAX):c.*461C>T	coding	Benign
14	65076072	G	A	G65076072A	MAX	NM_002382.5(MAX):c.*404C>T	coding	Benign
14	65076101	C	T	C65076101T	MAX	NM_002382.5(MAX):c.*375G>A	coding	Benign
14	65076132	A	T	A65076132T	MAX	NM_002382.5(MAX):c.*344T>A	coding	Benign
14	65076179	G	A	G65076179A	MAX	NM_002382.5(MAX):c.*297C>T	coding	Benign
14	65076228	T	A	T65076228A	MAX	NM_002382.5(MAX):c.*248A>T	coding	Benign
14	65076332	G	A	G65076332A	MAX	NM_002382.5(MAX):c.*144C>T	coding	Benign
14	65076348	A	T	A65076348T	MAX	NM_002382.5(MAX):c.*128T>A	coding	Benign
14	65076384	C	T	C65076384T	MAX	NM_002382.5(MAX):c.*92G>A	coding	Benign
14	65076411	C	G	C65076411G	MAX	NM_002382.5(MAX):c.*65G>C	coding	Benign
14	65076469	G	A	G65076469A	MAX	NM_002382.5(MAX):c.*7C>T	coding	Benign
14	65076639	G	T	G65076639T	MAX	NM_002382.5(MAX):c.320C>A:p.Ser107Ter	coding	Pathogenic
14	65077732	C	T	C65077732T	MAX	NM_002382.5(MAX):c.295+181G>A	noncoding	Benign
14	65077903	G	A	G65077903A	MAX	NM_002382.5(MAX):c.295+10C>T	noncoding	Benign/Likely_benign
14	65077912	C	T	C65077912T	MAX	NM_002382.5(MAX):c.295+1G>A	noncoding	Pathogenic
14	65077919	G	A	G65077919A	MAX	NM_002382.5(MAX):c.289C>T:p.Gln97Ter	coding	Pathogenic/Likely_pathogenic
14	65077985	G	A	G65077985A	MAX	NM_002382.5(MAX):c.223C>T:p.Arg75Ter	coding	Pathogenic
14	65077989	A	T	A65077989T	MAX	NM_002382.5(MAX):c.219T>A:p.Tyr73Ter	coding	Pathogenic
14	65093782	G	A	G65093782A	MAX	NM_002382.5(MAX):c.97C>T:p.Arg33Ter	coding	Pathogenic
14	65102318	C	A	C65102318A	MAX	NM_002382.5(MAX):c.22G>T:p.Glu8Ter	coding	Pathogenic
14	65102339	T	C	T65102339C	MAX	NM_002382.5(MAX):c.1A>G:p.Met1Val	coding	Pathogenic
14	65102357	G	A	G65102357A	MAX	NM_002382.5(MAX):c.-18C>T	noncoding	Benign
14	65102369	G	C	G65102369C	MAX	NM_002382.5(MAX):c.-30C>G	noncoding	Benign
14	65102433	C	G	C65102433G	MAX	NM_002382.5(MAX):c.-94G>C	noncoding	Benign
14	65102437	C	A	C65102437A	MAX	NM_002382.5(MAX):c.-98G>T	noncoding	Benign
14	65102439	A	C	A65102439C	MAX	NM_002382.5(MAX):c.-100T>G	noncoding	Benign
14	65561728	A	G	A65561728G	FUT8	NM_001371533.1(FUT8):c.165A>G:p.Gln55=	coding	Benign
14	65629579	G	A	G65629579A	FUT8	NM_001371533.1(FUT8):c.570G>A:p.Leu190=	coding	Benign
14	65669360	C	T	C65669360T	FUT8	NM_001371533.1(FUT8):c.715C>T:p.Arg239Ter	coding	Pathogenic
14	65721882	C	T	C65721882T	FUT8	NM_001371533.1(FUT8):c.943C>T:p.Arg315Ter	coding	Pathogenic
14	65721948	C	G	C65721948G	FUT8	NM_001371533.1(FUT8):c.1009C>G:p.Arg337Gly	coding	Pathogenic
14	65724328	G	T	G65724328T	FUT8	NM_001371533.1(FUT8):c.1259+5G>T	noncoding	Pathogenic
14	66508599	G	C	G66508599C	GPHN	NM_020806.4(GPHN):c.64+8G>C	noncoding	Benign
14	66681098	T	C	T66681098C	GPHN	NM_020806.4(GPHN):c.65-9T>C	noncoding	Benign
14	66681169	G	T	G66681169T	GPHN	NM_020806.4(GPHN):c.127G>T:p.Val43Leu	coding	Benign/Likely_benign
14	66824468	T	C	T66824468C	GPHN	NM_020806.4(GPHN):c.202-6T>C	noncoding	Benign
14	66965335	G	A	G66965335A	GPHN	NM_020806.4(GPHN):c.963+10G>A	noncoding	Benign
14	67111857	A	C	A67111857C	GPHN	NM_020806.4(GPHN):c.1414-4A>C	noncoding	Benign
14	67122295	C	T	C67122295T	GPHN	NM_020806.4(GPHN):c.1666C>T:p.Arg556Ter	coding	Pathogenic
14	67122363	T	C	T67122363C	GPHN	NM_020806.4(GPHN):c.1734T>C:p.Gly578=	coding	Benign
14	67143410	T	C	T67143410C	GPHN	NM_020806.4(GPHN):c.1797T>C:p.Asp599=	coding	Benign
14	67159416	A	C	A67159416C	GPHN	NM_020806.4(GPHN):c.1838A>C:p.Asp613Ala	coding	Pathogenic
14	67179683	T	C	T67179683C	GPHN	NM_020806.4(GPHN):c.2176+9T>C	noncoding	Benign
14	67279348	C	T	C67279348T	MPP5	NM_022474.4(MPP5):c.178C>T:p.Arg60Trp	coding	Benign
14	67302402	A	T	A67302402T	MPP5	NM_022474.4(MPP5):c.802-8A>T	noncoding	Benign
14	67302581	C	T	C67302581T	MPP5	NM_022474.4(MPP5):c.963+10C>T	noncoding	Benign
14	67316895	A	G	A67316895G	MPP5	NM_022474.4(MPP5):c.1289A>G:p.Glu430Gly	coding	Pathogenic
14	67332851	G	A	G67332851A	MPP5	NM_022474.4(MPP5):c.1923G>A:p.Thr641=	coding	Benign
14	67383389	A	G	A67383389G	EIF2S1	NM_004094.5(EIF2S1):c.897A>G:p.Glu299=	coding	Benign
14	67587182	C	T	C67587182T	PLEKHH1	NM_020715.3(PLEKHH1):c.4042C>T:p.Arg1348Ter	coding	Benign
14	67593826	A	G	A67593826G	PIGH	NM_004569.5(PIGH):c.307T>C:p.Ser103Pro	coding	Pathogenic
14	67600203	T	A	T67600203A	PIGH	NM_004569.5(PIGH):c.1A>T:p.Met1Leu	coding	Pathogenic
14	67620085	G	A	G67620085A	ARG2	NM_001172.4(ARG2):c.108G>A:p.Gly36=	coding	Benign
14	67650779	G	A	G67650779A	ARG2	NM_001172.4(ARG2):c.924G>A:p.Ala308=	coding	Benign
14	67662467	T	C	T67662467C	VTI1B	NM_006370.3(VTI1B):c.174+10A>G	noncoding	Benign
14	67674388	C	T	C67674388T	VTI1B	NM_006370.3(VTI1B):c.102G>A:p.Gly34=	coding	Benign
14	67678357	G	A	G67678357A	RDH11	NM_016026.4(RDH11):c.921C>T:p.Asp307=	coding	Benign
14	67692465	G	A	G67692465A	RDH11	NM_016026.4(RDH11):c.322C>T:p.Arg108Ter	coding	Pathogenic
14	67692588	G	A	G67692588A	RDH11	NM_016026.4(RDH11):c.199C>T:p.Arg67Ter	coding	Pathogenic
14	67722491	A	G	A67722491G	RDH12	NM_152443.3(RDH12):c.-152A>G	noncoding	Benign/Likely_benign
14	67722680	C	A	C67722680A	RDH12	NM_152443.3(RDH12):c.38C>A:p.Ser13Ter	coding	Pathogenic
14	67724550	C	T	C67724550T	RDH12	NM_152443.3(RDH12):c.146C>T:p.Thr49Met	coding	Pathogenic
14	67724556	T	A	T67724556A	RDH12	NM_152443.3(RDH12):c.152T>A:p.Ile51Asn	coding	Pathogenic
14	67724568	C	T	C67724568T	RDH12	NM_152443.3(RDH12):c.164C>T:p.Thr55Met	coding	Pathogenic/Likely_pathogenic
14	67724588	C	T	C67724588T	RDH12	NM_152443.3(RDH12):c.184C>T:p.Arg62Ter	coding	Pathogenic
14	67725137	G	A	G67725137A	RDH12	NM_152443.3(RDH12):c.226G>A:p.Gly76Arg	coding	Pathogenic
14	67725161	C	T	C67725161T	RDH12	NM_152443.3(RDH12):c.250C>T:p.Arg84Ter	coding	Pathogenic/Likely_pathogenic
14	67725175	G	A	G67725175A	RDH12	NM_152443.3(RDH12):c.264G>A:p.Lys88=	coding	Benign
14	67725206	C	A	C67725206A	RDH12	NM_152443.3(RDH12):c.295C>A:p.Leu99Ile	coding	Pathogenic
14	67725227	C	T	C67725227T	RDH12	NM_152443.3(RDH12):c.316C>T:p.Arg106Ter	coding	Pathogenic
14	67726084	C	T	C67726084T	RDH12	NM_152443.3(RDH12):c.377C>T:p.Ala126Val	coding	Pathogenic
14	67726086	G	T	G67726086T	RDH12	NM_152443.3(RDH12):c.379G>T:p.Gly127Ter	coding	Pathogenic
14	67726144	T	A	T67726144A	RDH12	NM_152443.3(RDH12):c.437T>A:p.Val146Asp	coding	Pathogenic
14	67726153	T	C	T67726153C	RDH12	NM_152443.3(RDH12):c.446T>C:p.Leu149Pro	coding	Pathogenic
14	67726156	G	A	G67726156A	RDH12	NM_152443.3(RDH12):c.448+1G>A	coding	Pathogenic
14	67726983	C	A	C67726983A	RDH12	NM_152443.3(RDH12):c.451C>A:p.His151Asn	coding	Pathogenic
14	67726983	C	G	C67726983G	RDH12	NM_152443.3(RDH12):c.451C>G:p.His151Asp	coding	Pathogenic
14	67726996	C	T	C67726996T	RDH12	NM_152443.3(RDH12):c.464C>T:p.Thr155Ile	coding	Pathogenic
14	67727014	G	A	G67727014A	RDH12	NM_152443.3(RDH12):c.482G>A:p.Arg161Gln	coding	Benign/Likely_benign
14	67727037	C	T	C67727037T	RDH12	NM_152443.3(RDH12):c.505C>T:p.Arg169Trp	coding	Pathogenic/Likely_pathogenic
14	67727038	G	A	G67727038A	RDH12	NM_152443.3(RDH12):c.506G>A:p.Arg169Gln	coding	Pathogenic/Likely_pathogenic
14	67727055	T	C	T67727055C	RDH12	NM_152443.3(RDH12):c.523T>C:p.Ser175Pro	coding	Pathogenic
14	67727056	C	T	C67727056T	RDH12	NM_152443.3(RDH12):c.524C>T:p.Ser175Leu	coding	Pathogenic/Likely_pathogenic
14	67727067	C	G	C67727067G	RDH12	NM_152443.3(RDH12):c.535C>G:p.His179Asp	coding	Pathogenic
14	67727097	C	T	C67727097T	RDH12	NM_152443.3(RDH12):c.565C>T:p.Gln189Ter	coding	Pathogenic
14	67727114	C	G	C67727114G	RDH12	NM_152443.3(RDH12):c.582C>G:p.Tyr194Ter	coding	Pathogenic
14	67727131	A	C	A67727131C	RDH12	NM_152443.3(RDH12):c.599A>C:p.Tyr200Ser	coding	Pathogenic
14	67727131	A	G	A67727131G	RDH12	NM_152443.3(RDH12):c.599A>G:p.Tyr200Cys	coding	Pathogenic
14	67727141	C	A	C67727141A	RDH12	NM_152443.3(RDH12):c.609C>A:p.Ser203Arg	coding	Pathogenic
14	67727191	G	A	G67727191A	RDH12	NM_152443.3(RDH12):c.658+1G>A	coding	Pathogenic
14	67729189	A	T	A67729189T	RDH12	NM_152443.3(RDH12):c.659-2A>T	noncoding	Pathogenic
14	67729209	A	G	A67729209G	RDH12	NM_152443.3(RDH12):c.677A>G:p.Tyr226Cys	coding	Pathogenic/Likely_pathogenic
14	67729220	C	G	C67729220G	RDH12	NM_152443.3(RDH12):c.688C>G:p.Pro230Ala	coding	Pathogenic
14	67729229	G	A	G67729229A	RDH12	NM_152443.3(RDH12):c.697G>A:p.Val233Ile	coding	Pathogenic
14	67729353	T	C	T67729353C	RDH12	NM_152443.3(RDH12):c.821T>C:p.Leu274Pro	coding	Pathogenic
14	67729382	T	C	T67729382C	RDH12	NM_152443.3(RDH12):c.848+2T>C	noncoding	Pathogenic
14	67733780	C	T	C67733780T	RDH12	NM_152443.3(RDH12):c.883C>T:p.Arg295Ter	coding	Pathogenic/Likely_pathogenic
14	67733828	C	T	C67733828T	RDH12	NM_152443.3(RDH12):c.931C>T:p.Leu311=	coding	Benign
14	67734233	T	C	T67734233C	RDH12	NM_152443.3(RDH12):c.*385T>C	noncoding	Benign
14	67746668	G	A	G67746668A	ZFYVE26	NM_015346.4(ZFYVE26):c.*1768C>T	noncoding	Benign
14	67746696	G	T	G67746696T	ZFYVE26	NM_015346.4(ZFYVE26):c.*1740C>A	noncoding	Benign
14	67746854	C	T	C67746854T	ZFYVE26	NM_015346.4(ZFYVE26):c.*1582G>A	noncoding	Benign
14	67747027	G	A	G67747027A	ZFYVE26	NM_015346.4(ZFYVE26):c.*1409C>T	noncoding	Benign
14	67747075	A	G	A67747075G	ZFYVE26	NM_015346.4(ZFYVE26):c.*1361T>C	noncoding	Benign
14	67747303	T	C	T67747303C	ZFYVE26	NM_015346.4(ZFYVE26):c.*1133A>G	noncoding	Benign
14	67748071	T	C	T67748071C	ZFYVE26	NM_015346.4(ZFYVE26):c.*365A>G	noncoding	Benign
14	67748470	G	C	G67748470C	ZFYVE26	NM_015346.4(ZFYVE26):c.7586C>G:p.Pro2529Arg	coding	Benign/Likely_benign
14	67751061	A	G	A67751061G	ZFYVE26	NM_015346.4(ZFYVE26):c.7407T>C:p.Asp2469=	coding	Benign
14	67752138	T	C	T67752138C	ZFYVE26	NM_015346.4(ZFYVE26):c.7371+206A>G	noncoding	Benign
14	67752483	C	T	C67752483T	ZFYVE26	NM_015346.4(ZFYVE26):c.7232G>A:p.Arg2411His	coding	Benign/Likely_benign
14	67752520	G	A	G67752520A	ZFYVE26	NM_015346.4(ZFYVE26):c.7195C>T:p.Gln2399Ter	coding	Pathogenic/Likely_pathogenic
14	67753534	C	T	C67753534T	ZFYVE26	NM_015346.4(ZFYVE26):c.7188+173G>A	noncoding	Benign
14	67754139	G	A	G67754139A	ZFYVE26	NM_015346.4(ZFYVE26):c.7060C>T:p.Gln2354Ter	coding	Pathogenic
14	67754158	G	T	G67754158T	ZFYVE26	NM_015346.4(ZFYVE26):c.7041C>A:p.Cys2347Ter	coding	Pathogenic/Likely_pathogenic
14	67754215	G	A	G67754215A	ZFYVE26	NM_015346.4(ZFYVE26):c.6987-3C>T	noncoding	Benign
14	67754363	T	C	T67754363C	ZFYVE26	NM_015346.4(ZFYVE26):c.6987-151A>G	noncoding	Benign
14	67755116	G	A	G67755116A	ZFYVE26	NM_015346.4(ZFYVE26):c.6921C>T:p.Ser2307=	coding	Benign
14	67761359	G	A	G67761359A	ZFYVE26	NM_015346.4(ZFYVE26):c.6588+7C>T	noncoding	Benign
14	67761549	C	T	C67761549T	ZFYVE26	NM_015346.4(ZFYVE26):c.6405G>A:p.Leu2135=	coding	Benign/Likely_benign
14	67762343	C	T	C67762343T	ZFYVE26	NM_015346.4(ZFYVE26):c.6229G>A:p.Gly2077Arg	coding	Benign/Likely_benign
14	67762690	G	T	G67762690T	ZFYVE26	NM_015346.4(ZFYVE26):c.6141C>A:p.Tyr2047Ter	coding	Pathogenic
14	67766023	G	A	G67766023A	ZFYVE26	NM_015346.4(ZFYVE26):c.6011+204C>T	noncoding	Benign
14	67766080	C	G	C67766080G	ZFYVE26	NM_015346.4(ZFYVE26):c.6011+147G>C	noncoding	Benign
14	67766439	G	A	G67766439A	ZFYVE26	NM_015346.4(ZFYVE26):c.5799C>T:p.Ser1933=	coding	Benign
14	67767710	A	G	A67767710G	ZFYVE26	NM_015346.4(ZFYVE26):c.5784T>C:p.Tyr1928=	coding	Benign
14	67767822	T	C	T67767822C	ZFYVE26	NM_015346.4(ZFYVE26):c.5672A>G:p.Asn1891Ser	coding	Benign
14	67768128	T	C	T67768128C	ZFYVE26	NM_015346.4(ZFYVE26):c.5654-288A>G	noncoding	Benign
14	67769603	C	T	C67769603T	ZFYVE26	NM_015346.4(ZFYVE26):c.5612G>A:p.Cys1871Tyr	coding	Benign
14	67769731	C	T	C67769731T	ZFYVE26	NM_015346.4(ZFYVE26):c.5485-1G>A	coding	Pathogenic
14	67769805	G	A	G67769805A	ZFYVE26	NM_015346.4(ZFYVE26):c.5485-75C>T	noncoding	Benign
14	67771782	T	G	T67771782G	ZFYVE26	NM_015346.4(ZFYVE26):c.5484+265A>C	noncoding	Benign
14	67772105	C	T	C67772105T	ZFYVE26	NM_015346.4(ZFYVE26):c.5426G>A:p.Trp1809Ter	coding	Pathogenic
14	67772109	G	A	G67772109A	ZFYVE26	NM_015346.4(ZFYVE26):c.5422C>T:p.Gln1808Ter	coding	Pathogenic
14	67776031	G	A	G67776031A	ZFYVE26	NM_015346.4(ZFYVE26):c.5050C>T:p.Gln1684Ter	coding	Pathogenic
14	67776358	C	A	C67776358A	ZFYVE26	NM_015346.4(ZFYVE26):c.4975-252G>T	noncoding	Benign
14	67777597	G	A	G67777597A	ZFYVE26	NM_015346.4(ZFYVE26):c.4936C>T:p.Arg1646Ter	coding	Pathogenic
14	67777729	G	A	G67777729A	ZFYVE26	NM_015346.4(ZFYVE26):c.4804C>T:p.Arg1602Ter	coding	Pathogenic/Likely_pathogenic
14	67780272	G	C	G67780272C	ZFYVE26	NM_015346.4(ZFYVE26):c.4643C>G:p.Ser1548Ter	coding	Pathogenic
14	67780282	C	A	C67780282A	ZFYVE26	NM_015346.4(ZFYVE26):c.4633G>T:p.Glu1545Ter	coding	Pathogenic
14	67782782	C	T	C67782782T	ZFYVE26	NM_015346.4(ZFYVE26):c.4370G>A:p.Cys1457Tyr	coding	Benign
14	67782793	A	T	A67782793T	ZFYVE26	NM_015346.4(ZFYVE26):c.4359T>A:p.Cys1453Ter	coding	Pathogenic
14	67782840	G	A	G67782840A	ZFYVE26	NM_015346.4(ZFYVE26):c.4312C>T:p.Arg1438Ter	coding	Pathogenic/Likely_pathogenic
14	67782971	C	T	C67782971T	ZFYVE26	NM_015346.4(ZFYVE26):c.4181G>A:p.Trp1394Ter	coding	Pathogenic
14	67783020	G	A	G67783020A	ZFYVE26	NM_015346.4(ZFYVE26):c.4132C>T:p.Arg1378Ter	coding	Pathogenic
14	67783086	A	C	A67783086C	ZFYVE26	NM_015346.4(ZFYVE26):c.4066T>G:p.Cys1356Gly	coding	Benign/Likely_benign
14	67783172	A	C	A67783172C	ZFYVE26	NM_015346.4(ZFYVE26):c.3980T>G:p.Leu1327Ter	coding	Pathogenic
14	67783217	G	T	G67783217T	ZFYVE26	NM_015346.4(ZFYVE26):c.3935C>A:p.Ser1312Ter	coding	Pathogenic
14	67783395	G	A	G67783395A	ZFYVE26	NM_015346.4(ZFYVE26):c.3757C>T:p.Leu1253=	coding	Benign
14	67783797	A	C	A67783797C	ZFYVE26	NM_015346.4(ZFYVE26):c.3627-272T>G	noncoding	Benign
14	67784362	G	A	G67784362A	ZFYVE26	NM_015346.4(ZFYVE26):c.3598C>T:p.Leu1200=	coding	Benign
14	67785168	C	T	C67785168T	ZFYVE26	NM_015346.4(ZFYVE26):c.3414G>A:p.Leu1138=	coding	Benign
14	67785179	G	A	G67785179A	ZFYVE26	NM_015346.4(ZFYVE26):c.3403C>T:p.Gln1135Ter	coding	Pathogenic
14	67785217	G	A	G67785217A	ZFYVE26	NM_015346.4(ZFYVE26):c.3365C>T:p.Ala1122Val	coding	Benign
14	67785274	G	A	G67785274A	ZFYVE26	NM_015346.4(ZFYVE26):c.3308C>T:p.Pro1103Leu	coding	Benign
14	67785952	G	A	G67785952A	ZFYVE26	NM_015346.4(ZFYVE26):c.3210C>T:p.Pro1070=	coding	Benign/Likely_benign
14	67785952	G	C	G67785952C	ZFYVE26	NM_015346.4(ZFYVE26):c.3210C>G:p.Pro1070=	coding	Benign
14	67786113	C	T	C67786113T	ZFYVE26	NM_015346.4(ZFYVE26):c.3139+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	67786135	A	T	A67786135T	ZFYVE26	NM_015346.4(ZFYVE26):c.3118T>A:p.Ser1040Thr	coding	Benign
14	67786192	G	A	G67786192A	ZFYVE26	NM_015346.4(ZFYVE26):c.3061C>T:p.Arg1021Ter	coding	Pathogenic
14	67786231	G	A	G67786231A	ZFYVE26	NM_015346.4(ZFYVE26):c.3022C>T:p.Arg1008Ter	coding	Pathogenic
14	67789502	G	A	G67789502A	ZFYVE26	NM_015346.4(ZFYVE26):c.2852C>T:p.Thr951Met	coding	Benign/Likely_benign
14	67789528	C	T	C67789528T	ZFYVE26	NM_015346.4(ZFYVE26):c.2826G>A:p.Met942Ile	coding	Benign/Likely_benign
14	67790288	T	G	T67790288G	ZFYVE26	NM_015346.4(ZFYVE26):c.2755+284A>C	noncoding	Benign
14	67790635	T	A	T67790635A	ZFYVE26	NM_015346.4(ZFYVE26):c.2692A>T:p.Thr898Ser	coding	Benign
14	67790768	C	T	C67790768T	ZFYVE26	NM_015346.4(ZFYVE26):c.2559G>A:p.Leu853=	coding	Benign
14	67793680	G	T	G67793680T	ZFYVE26	NM_015346.4(ZFYVE26):c.2481C>A:p.Pro827=	coding	Benign/Likely_benign
14	67793757	C	A	C67793757A	ZFYVE26	NM_015346.4(ZFYVE26):c.2404G>T:p.Gly802Ter	coding	Pathogenic
14	67797741	G	A	G67797741A	ZFYVE26	NM_015346.4(ZFYVE26):c.2263C>T:p.Arg755Ter	coding	Pathogenic
14	67798150	A	G	A67798150G	ZFYVE26	NM_015346.4(ZFYVE26):c.2112T>C:p.Pro704=	coding	Benign
14	67798157	C	T	C67798157T	ZFYVE26	NM_015346.4(ZFYVE26):c.2105G>A:p.Arg702His	coding	Benign/Likely_benign
14	67798179	G	A	G67798179A	ZFYVE26	NM_015346.4(ZFYVE26):c.2083C>T:p.Gln695Ter	coding	Pathogenic
14	67798329	T	C	T67798329C	ZFYVE26	NM_015346.4(ZFYVE26):c.1933A>G:p.Met645Val	coding	Benign
14	67798401	G	A	G67798401A	ZFYVE26	NM_015346.4(ZFYVE26):c.1861C>T:p.Gln621Ter	coding	Pathogenic
14	67798418	G	A	G67798418A	ZFYVE26	NM_015346.4(ZFYVE26):c.1844C>T:p.Ser615Phe	coding	Benign/Likely_benign
14	67798513	G	A	G67798513A	ZFYVE26	NM_015346.4(ZFYVE26):c.1749C>T:p.Leu583=	coding	Benign
14	67802121	C	T	C67802121T	ZFYVE26	NM_015346.4(ZFYVE26):c.1597G>A:p.Ala533Thr	coding	Benign/Likely_benign
14	67802174	G	T	G67802174T	ZFYVE26	NM_015346.4(ZFYVE26):c.1544C>A:p.Ser515Ter	coding	Pathogenic
14	67802241	G	A	G67802241A	ZFYVE26	NM_015346.4(ZFYVE26):c.1477C>T:p.Gln493Ter	coding	Pathogenic
14	67803963	G	C	G67803963C	ZFYVE26	NM_015346.4(ZFYVE26):c.1435+138C>G	noncoding	Benign
14	67805264	C	A	C67805264A	ZFYVE26	NM_015346.4(ZFYVE26):c.1224G>T:p.Gly408=	coding	Benign
14	67806602	C	T	C67806602T	ZFYVE26	NM_015346.4(ZFYVE26):c.960G>A:p.Trp320Ter	coding	Pathogenic
14	67807447	A	C	A67807447C	ZFYVE26	NM_015346.4(ZFYVE26):c.837T>G:p.Tyr279Ter	coding	Pathogenic
14	67807536	C	T	C67807536T	ZFYVE26	NM_015346.4(ZFYVE26):c.748G>A:p.Glu250Lys	coding	Benign/Likely_benign
14	67807692	G	A	G67807692A	ZFYVE26	NM_015346.4(ZFYVE26):c.592C>T:p.Arg198Ter	coding	Pathogenic/Likely_pathogenic
14	67807755	C	A	C67807755A	ZFYVE26	NM_015346.4(ZFYVE26):c.529G>T:p.Glu177Ter	coding	Pathogenic
14	67807831	G	A	G67807831A	ZFYVE26	NM_015346.4(ZFYVE26):c.453C>T:p.Ser151=	coding	Benign
14	67814028	C	T	C67814028T	ZFYVE26	NM_015346.4(ZFYVE26):c.231G>A:p.Trp77Ter	coding	Pathogenic
14	67815878	C	T	C67815878T	ZFYVE26	NM_015346.4(ZFYVE26):c.86G>A:p.Trp29Ter	coding	Pathogenic
14	67816033	T	A	T67816033A	ZFYVE26	NM_015346.4(ZFYVE26):c.-70A>T	noncoding	Benign/Likely_benign
14	67825470	T	C	T67825470C	RAD51B	NM_133509.4(RAD51B):c.91T>C:p.Leu31=	coding	Benign
14	67835204	A	G	A67835204G	RAD51B	NM_133509.4(RAD51B):c.315+8A>G	noncoding	Benign
14	67885955	A	G	A67885955G	RAD51B	NM_133509.4(RAD51B):c.539A>G:p.Tyr180Cys	coding	Benign
14	67887162	G	A	G67887162A	RAD51B	NM_133509.4(RAD51B):c.714G>A:p.Glu238=	coding	Benign
14	68594569	T	C	T68594569C	RAD51B	NM_133509.4(RAD51B):c.1121T>C:p.Leu374Pro	coding	Benign
14	68879987	C	T	C68879987T	ACTN1	NM_001102.4(ACTN1):c.2255G>A:p.Arg752Gln	coding	Pathogenic
14	68880030	G	A	G68880030A	ACTN1	NM_001102.4(ACTN1):c.2212C>T:p.Arg738Trp	coding	Pathogenic/Likely_pathogenic
14	68880117	C	T	C68880117T	ACTN1	NM_001130004.1(ACTN1):c.2134-9G>A	noncoding	Benign
14	68880118	G	A	G68880118A	ACTN1	NM_001130004.1(ACTN1):c.2134-10C>T	noncoding	Benign
14	68880924	C	T	C68880924T	ACTN1	NM_001130004.1(ACTN1):c.2019G>A:p.Gln673=	coding	Benign
14	68882479	G	A	G68882479A	ACTN1	NM_001130004.1(ACTN1):c.1932C>T:p.Pro644=	coding	Benign
14	68883008	G	A	G68883008A	ACTN1	NM_001130004.1(ACTN1):c.1683C>T:p.Ala561=	coding	Benign
14	68884859	G	A	G68884859A	ACTN1	NM_001130004.1(ACTN1):c.1410C>T:p.Pro470=	coding	Benign
14	68885454	C	T	C68885454T	ACTN1	NM_001130004.1(ACTN1):c.1356G>A:p.Glu452=	coding	Benign
14	68885538	G	A	G68885538A	ACTN1	NM_001130004.1(ACTN1):c.1272C>T:p.Thr424=	coding	Benign
14	68890245	C	T	C68890245T	ACTN1	NM_001130004.1(ACTN1):c.1128G>A:p.Lys376=	coding	Benign
14	68892146	C	T	C68892146T	ACTN1	NM_001130004.1(ACTN1):c.993G>A:p.Lys331=	coding	Benign
14	68904649	T	C	T68904649C	ACTN1	NM_001130004.1(ACTN1):c.676+6A>G	noncoding	Benign
14	68904658	C	T	C68904658T	ACTN1	NM_001102.4(ACTN1):c.673G>A:p.Glu225Lys	coding	Pathogenic
14	68904659	G	A	G68904659A	ACTN1	NM_001130004.1(ACTN1):c.672C>T:p.Ala224=	coding	Benign
14	68921033	C	T	C68921033T	ACTN1	NM_001102.4(ACTN1):c.313G>A:p.Val105Ile	coding	Pathogenic/Likely_pathogenic
14	68925641	C	T	C68925641T	ACTN1	NM_001102.4(ACTN1):c.137G>A:p.Arg46Gln	coding	Pathogenic
14	68925642	G	A	G68925642A	ACTN1	NM_001102.4(ACTN1):c.136C>T:p.Arg46Trp	coding	Pathogenic/Likely_pathogenic
14	68978963	G	T	G68978963T	ACTN1	NM_001102.4(ACTN1):c.94C>A:p.Gln32Lys	coding	Pathogenic
14	69458404	G	A	G69458404A	SLC39A9	NM_018375.5(SLC39A9):c.735G>A:p.Val245=	coding	Benign
14	69500567	T	C	T69500567C	PLEKHD1	NM_001161498.2(PLEKHD1):c.244-10T>C	noncoding	Benign
14	69500676	G	A	G69500676A	PLEKHD1	NM_001161498.2(PLEKHD1):c.333+10G>A	noncoding	Benign
14	69527936	A	G	A69527936G	PLEKHD1	NM_001161498.2(PLEKHD1):c.1351+4A>G	noncoding	Benign
14	69778476	G	A	G69778476A	SLC10A1	NM_003049.4(SLC10A1):c.800C>T:p.Ser267Phe	coding	Benign
14	69779183	G	T	G69779183T	SLC10A1	NM_003049.4(SLC10A1):c.745C>A:p.Arg249=	coding	Benign
14	69779260	A	G	A69779260G	SLC10A1	NM_003049.4(SLC10A1):c.668T>C:p.Ile223Thr	coding	Benign
14	69779301	A	G	A69779301G	SLC10A1	NM_003049.4(SLC10A1):c.627T>C:p.Asn209=	coding	Benign
14	69786211	C	T	C69786211T	SLC10A1	NM_003049.4(SLC10A1):c.453G>A:p.Lys151=	coding	Benign
14	69879699	C	T	C69879699T	SMOC1	NM_001034852.3(SMOC1):c.21C>T:p.Ala7=	coding	Benign
14	69952141	C	G	C69952141G	SMOC1	NM_001034852.3(SMOC1):c.103C>G:p.Leu35Val	coding	Benign
14	69952164	G	A	G69952164A	SMOC1	NM_001034852.3(SMOC1):c.126G>A:p.Gln42=	coding	Benign
14	69952282	G	A	G69952282A	SMOC1	NM_001034852.3(SMOC1):c.244G>A:p.Val82Met	coding	Benign
14	69953521	T	C	T69953521C	SMOC1	NM_001034852.3(SMOC1):c.367T>C:p.Ser123Pro	coding	Pathogenic
14	69953533	G	A	G69953533A	SMOC1	NM_001034852.3(SMOC1):c.378+1G>A	coding	Pathogenic
14	69953533	G	T	G69953533T	SMOC1	NM_001034852.3(SMOC1):c.378+1G>T	coding	Pathogenic
14	69975759	G	A	G69975759A	SMOC1	NM_001034852.3(SMOC1):c.423G>A:p.Pro141=	coding	Benign
14	69992457	G	A	G69992457A	SMOC1	NM_001034852.3(SMOC1):c.567G>A:p.Pro189=	coding	Benign/Likely_benign
14	69994481	G	A	G69994481A	SMOC1	NM_001034852.3(SMOC1):c.664+1G>A	coding	Pathogenic
14	70010791	C	T	C70010791T	SMOC1	NM_001034852.3(SMOC1):c.702C>T:p.Ala234=	coding	Benign
14	70010798	G	T	G70010798T	SMOC1	NM_001034852.3(SMOC1):c.709G>T:p.Glu237Ter	coding	Pathogenic
14	70010807	C	T	C70010807T	SMOC1	NM_001034852.3(SMOC1):c.718C>T:p.Gln240Ter	coding	Pathogenic
14	70010946	G	A	G70010946A	SMOC1	NM_001034852.3(SMOC1):c.857G>A:p.Arg286His	coding	Pathogenic
14	70011466	C	A	C70011466A	SMOC1	NM_001034852.3(SMOC1):c.858-19C>A	noncoding	Benign
14	70011513	G	A	G70011513A	SMOC1	NM_001034852.3(SMOC1):c.886G>A:p.Ala296Thr	coding	Benign
14	70013427	C	T	C70013427T	SMOC1	NM_001034852.3(SMOC1):c.982C>T:p.Leu328=	coding	Benign
14	70013498	T	A	T70013498A	SMOC1	NM_001034852.3(SMOC1):c.1046+7T>A	noncoding	Benign
14	70023218	C	T	C70023218T	SMOC1	NM_001034852.3(SMOC1):c.1062C>T:p.Asp354=	coding	Benign
14	70023317	C	T	C70023317T	SMOC1	NM_001034852.3(SMOC1):c.1161C>T:p.Phe387=	coding	Benign
14	70046172	C	G	C70046172G	SLC8A3	NM_182932.3(SLC8A3):c.2541G>C:p.Glu847Asp	coding	Benign
14	70166983	G	A	G70166983A	SLC8A3	NM_182932.3(SLC8A3):c.1440C>T:p.Phe480=	coding	Benign
14	70167483	T	C	T70167483C	SLC8A3	NM_182932.3(SLC8A3):c.940A>G:p.Arg314Gly	coding	Benign
14	70167718	G	A	G70167718A	SLC8A3	NM_182932.3(SLC8A3):c.705C>T:p.Leu235=	coding	Benign
14	70168267	C	T	C70168267T	SLC8A3	NM_182932.3(SLC8A3):c.156G>A:p.Ser52=	coding	Benign
14	70168393	G	T	G70168393T	SLC8A3	NM_182932.3(SLC8A3):c.30C>A:p.Thr10=	coding	Benign
14	70946994	A	C	A70946994C	PCNX1	NM_014982.3(PCNX1):c.233A>C:p.Asn78Thr	coding	Benign
14	70977749	C	G	C70977749G	PCNX1	NM_014982.3(PCNX1):c.1412C>G:p.Thr471Ser	coding	Benign
14	70978353	G	A	G70978353A	PCNX1	NM_014982.3(PCNX1):c.2016G>A:p.Lys672=	coding	Benign
14	70978539	A	G	A70978539G	PCNX1	NM_014982.3(PCNX1):c.2202A>G:p.Leu734=	coding	Benign
14	70988677	T	C	T70988677C	PCNX1	NM_014982.3(PCNX1):c.2422T>C:p.Leu808=	coding	Benign
14	71047951	G	C	G71047951C	PCNX1	NM_014982.3(PCNX1):c.4305G>C:p.Leu1435Phe	coding	Benign
14	71051879	A	C	A71051879C	PCNX1	NM_014982.3(PCNX1):c.4448-4A>C	noncoding	Benign
14	71109012	A	G	A71109012G	PCNX1	NM_014982.3(PCNX1):c.6710A>G:p.His2237Arg	coding	Benign
14	71587991	G	A	G71587991A	SIPA1L1	NM_015556.4(SIPA1L1):c.119G>A:p.Arg40Gln	coding	Benign
14	71588038	C	A	C71588038A	SIPA1L1	NM_015556.4(SIPA1L1):c.166C>A:p.Pro56Thr	coding	Benign
14	71588361	C	G	C71588361G	SIPA1L1	NM_015556.4(SIPA1L1):c.489C>G:p.Pro163=	coding	Benign
14	71624092	G	A	G71624092A	SIPA1L1	NM_015556.4(SIPA1L1):c.1674G>A:p.Ser558=	coding	Benign
14	71661414	C	T	C71661414T	SIPA1L1	NM_015556.4(SIPA1L1):c.2202C>T:p.His734=	coding	Benign
14	71964882	C	T	C71964882T	RGS6	NM_001204424.2(RGS6):c.84+7C>T	noncoding	Benign
14	72352103	C	T	C72352103T	RGS6	NM_001204424.2(RGS6):c.93C>T:p.Asp31=	coding	Benign
14	72352201	C	T	C72352201T	RGS6	NM_001204424.2(RGS6):c.184+7C>T	noncoding	Benign
14	72465807	G	C	G72465807C	RGS6	NM_001204424.2(RGS6):c.444G>C:p.Leu148=	coding	Benign
14	72478304	T	C	T72478304C	RGS6	NM_001204424.2(RGS6):c.829T>C:p.Leu277=	coding	Benign
14	72938062	T	C	T72938062C	DCAF4	NM_015604.4(DCAF4):c.84T>C:p.Ser28=	coding	Benign
14	72958657	G	A	G72958657A	DCAF4	NM_015604.4(DCAF4):c.1340G>A:p.Arg447His	coding	Benign
14	72998208	G	T	G72998208T	ZFYVE1	NM_021260.4(ZFYVE1):c.591C>A:p.Leu197=	coding	Benign
14	73024044	G	A	G73024044A	ZFYVE1	NM_021260.4(ZFYVE1):c.465C>T:p.Asp155=	coding	Benign
14	73136191	C	G	C73136191G	PSEN1	NM_000021.3(PSEN1):c.-528C>G	noncoding	Benign
14	73136423	C	T	C73136423T	PSEN1	NM_000021.3(PSEN1):c.-296C>T	noncoding	Benign/Likely_benign
14	73170945	C	T	C73170945T	PSEN1	NM_000021.4(PSEN1):c.236C>T:p.Ala79Val	coding	Pathogenic
14	73170972	C	G	C73170972G	PSEN1	NM_000021.4(PSEN1):c.263C>G:p.Pro88Arg	coding	Pathogenic
14	73170972	C	T	C73170972T	PSEN1	NM_000021.4(PSEN1):c.263C>T:p.Pro88Leu	coding	Pathogenic
14	73170974	G	T	G73170974T	PSEN1	NM_000021.4(PSEN1):c.265G>T:p.Val89Leu	coding	Pathogenic
14	73170984	G	C	G73170984C	PSEN1	NM_000021.4(PSEN1):c.275G>C:p.Cys92Ser	coding	Pathogenic
14	73171023	T	G	T73171023G	PSEN1	NM_000021.4(PSEN1):c.314T>G:p.Phe105Cys	coding	Pathogenic
14	73171030	C	G	C73171030G	PSEN1	NM_000021.4(PSEN1):c.321C>G:p.Thr107=	coding	Benign
14	73173571	A	G	A73173571G	PSEN1	NM_000021.4(PSEN1):c.344A>G:p.Tyr115Cys	coding	Pathogenic/Likely_pathogenic
14	73173574	C	A	C73173574A	PSEN1	NM_000021.4(PSEN1):c.347C>A:p.Thr116Asn	coding	Pathogenic
14	73173587	A	T	A73173587T	PSEN1	NM_000021.4(PSEN1):c.360A>T:p.Glu120Asp	coding	Pathogenic
14	73173631	A	G	A73173631G	PSEN1	NM_000021.4(PSEN1):c.404A>G:p.Asn135Ser	coding	Pathogenic/Likely_pathogenic
14	73173642	A	G	A73173642G	PSEN1	NM_000021.4(PSEN1):c.415A>G:p.Met139Val	coding	Pathogenic
14	73173651	G	A	G73173651A	PSEN1	NM_000021.4(PSEN1):c.424G>A:p.Val142Ile	coding	Pathogenic
14	73173655	T	C	T73173655C	PSEN1	NM_000021.4(PSEN1):c.428T>C:p.Ile143Thr	coding	Pathogenic
14	73173663	A	C	A73173663C	PSEN1	NM_000021.4(PSEN1):c.436A>C:p.Met146Leu	coding	Pathogenic
14	73173663	A	G	A73173663G	PSEN1	NM_000021.4(PSEN1):c.436A>G:p.Met146Val	coding	Pathogenic
14	73173665	G	A	G73173665A	PSEN1	NM_000021.4(PSEN1):c.438G>A:p.Met146Ile	coding	Pathogenic
14	73173665	G	T	G73173665T	PSEN1	NM_000021.4(PSEN1):c.438G>T:p.Met146Ile	coding	Pathogenic
14	73186859	C	T	C73186859T	PSEN1	NM_000021.4(PSEN1):c.487C>T:p.His163Tyr	coding	Pathogenic
14	73186860	A	G	A73186860G	PSEN1	NM_000021.4(PSEN1):c.488A>G:p.His163Arg	coding	Pathogenic
14	73186869	T	C	T73186869C	PSEN1	NM_000021.4(PSEN1):c.497T>C:p.Leu166Pro	coding	Pathogenic
14	73186881	C	T	C73186881T	PSEN1	NM_000021.4(PSEN1):c.509C>T:p.Ser170Phe	coding	Pathogenic
14	73186892	C	A	C73186892A	PSEN1	NM_000021.4(PSEN1):c.520C>A:p.Leu174Met	coding	Pathogenic
14	73186920	G	T	G73186920T	PSEN1	NM_000021.4(PSEN1):c.548G>T:p.Gly183Val	coding	Pathogenic
14	73192712	G	A	G73192712A	PSEN1	NM_000021.4(PSEN1):c.617G>A:p.Gly206Asp	coding	Pathogenic
14	73192712	G	C	G73192712C	PSEN1	NM_000021.4(PSEN1):c.617G>C:p.Gly206Ala	coding	Pathogenic
14	73192712	G	T	G73192712T	PSEN1	NM_000021.4(PSEN1):c.617G>T:p.Gly206Val	coding	Pathogenic
14	73192721	G	T	G73192721T	PSEN1	NM_000021.4(PSEN1):c.626G>T:p.Gly209Val	coding	Pathogenic
14	73192744	G	C	G73192744C	PSEN1	NM_000021.4(PSEN1):c.649G>C:p.Gly217Arg	coding	Pathogenic
14	73192792	A	G	A73192792G	PSEN1	NM_000021.4(PSEN1):c.697A>G:p.Met233Val	coding	Pathogenic/Likely_pathogenic
14	73192832	C	A	C73192832A	PSEN1	NM_000021.4(PSEN1):c.737C>A:p.Ala246Glu	coding	Pathogenic
14	73192844	T	C	T73192844C	PSEN1	NM_000021.4(PSEN1):c.749T>C:p.Leu250Ser	coding	Pathogenic
14	73192862	A	C	A73192862C	PSEN1	NM_000021.4(PSEN1):c.767A>C:p.Tyr256Ser	coding	Pathogenic
14	73198043	T	G	T73198043G	PSEN1	NM_000021.4(PSEN1):c.782T>G:p.Val261Gly	coding	Benign
14	73198052	C	T	C73198052T	PSEN1	NM_000021.4(PSEN1):c.791C>T:p.Pro264Leu	coding	Pathogenic/Likely_pathogenic
14	73198057	G	A	G73198057A	PSEN1	NM_000021.4(PSEN1):c.796G>A:p.Gly266Ser	coding	Pathogenic
14	73198067	G	A	G73198067A	PSEN1	NM_000021.4(PSEN1):c.806G>A:p.Arg269His	coding	Pathogenic
14	73198072	C	G	C73198072G	PSEN1	NM_000021.4(PSEN1):c.811C>G:p.Leu271Val	coding	Pathogenic
14	73198094	G	C	G73198094C	PSEN1	NM_000021.4(PSEN1):c.833G>C:p.Arg278Thr	coding	Pathogenic
14	73198094	G	T	G73198094T	PSEN1	NM_000021.4(PSEN1):c.833G>T:p.Arg278Ile	coding	Pathogenic
14	73198100	A	C	A73198100C	PSEN1	NM_000021.4(PSEN1):c.839A>C:p.Glu280Ala	coding	Pathogenic
14	73198100	A	G	A73198100G	PSEN1	NM_000021.4(PSEN1):c.839A>G:p.Glu280Gly	coding	Pathogenic
14	73198117	C	G	C73198117G	PSEN1	NM_000021.4(PSEN1):c.856C>G:p.Leu286Val	coding	Pathogenic
14	73198145	G	T	G73198145T	PSEN1	NM_000021.4(PSEN1):c.868+16G>T	noncoding	Benign
14	73206384	A	T	A73206384T	PSEN1	NM_000021.4(PSEN1):c.869-2A>T	noncoding	Pathogenic
14	73206470	A	G	A73206470G	PSEN1	NM_000021.4(PSEN1):c.953A>G:p.Glu318Gly	coding	Benign/Likely_benign
14	73217129	G	A	G73217129A	PSEN1	NM_000021.4(PSEN1):c.1133G>A:p.Gly378Glu	coding	Pathogenic
14	73217137	C	G	C73217137G	PSEN1	NM_000021.4(PSEN1):c.1141C>G:p.Leu381Val	coding	Pathogenic
14	73217170	C	G	C73217170G	PSEN1	NM_000021.4(PSEN1):c.1174C>G:p.Leu392Val	coding	Pathogenic
14	73217171	T	C	T73217171C	PSEN1	NM_000021.4(PSEN1):c.1175T>C:p.Leu392Pro	coding	Pathogenic
14	73217225	G	A	G73217225A	PSEN1	NM_000021.4(PSEN1):c.1229G>A:p.Cys410Tyr	coding	Pathogenic
14	73217252	T	C	T73217252C	PSEN1	NM_000021.4(PSEN1):c.1248+8T>C	noncoding	Benign/Likely_benign
14	73219139	G	C	G73219139C	PSEN1	NM_000021.4(PSEN1):c.1254G>C:p.Leu418Phe	coding	Pathogenic
14	73219177	C	A	C73219177A	PSEN1	NM_000021.4(PSEN1):c.1292C>A:p.Ala431Glu	coding	Pathogenic
14	73219192	C	A	C73219192A	PSEN1	NM_000021.4(PSEN1):c.1307C>A:p.Pro436Gln	coding	Pathogenic
14	73219602	C	A	C73219602A	PSEN1	NM_000021.4(PSEN1):c.*313C>A	noncoding	Benign/Likely_benign
14	73219653	T	C	T73219653C	PSEN1	NM_000021.4(PSEN1):c.*364T>C	noncoding	Benign/Likely_benign
14	73219738	T	C	T73219738C	PSEN1	NM_000021.4(PSEN1):c.*449T>C	noncoding	Benign/Likely_benign
14	73220236	G	A	G73220236A	PSEN1	NM_000021.4(PSEN1):c.*947G>A	noncoding	Benign
14	73220436	C	T	C73220436T	PSEN1	NM_000021.4(PSEN1):c.*1147C>T	noncoding	Benign
14	73220979	T	C	T73220979C	PSEN1	NM_000021.4(PSEN1):c.*1690T>C	noncoding	Benign/Likely_benign
14	73221080	A	T	A73221080T	PSEN1	NM_000021.4(PSEN1):c.*1791A>T	noncoding	Benign/Likely_benign
14	73221719	T	C	T73221719C	PSEN1	NM_000021.4(PSEN1):c.*2430T>C	noncoding	Benign/Likely_benign
14	73222153	A	C	A73222153C	PSEN1	NM_000021.4(PSEN1):c.*2864A>C	noncoding	Benign
14	73222647	A	G	A73222647G	PSEN1	NM_000021.4(PSEN1):c.*3358A>G	noncoding	Benign/Likely_benign
14	73222649	A	G	A73222649G	PSEN1	NM_000021.4(PSEN1):c.*3360A>G	noncoding	Benign/Likely_benign
14	73222814	A	G	A73222814G	PSEN1	NM_000021.4(PSEN1):c.*3525A>G	noncoding	Benign/Likely_benign
14	73222827	C	G	C73222827G	PSEN1	NM_000021.4(PSEN1):c.*3538C>G	noncoding	Benign/Likely_benign
14	73222855	A	G	A73222855G	PSEN1	NM_000021.4(PSEN1):c.*3566A>G	noncoding	Benign/Likely_benign
14	73222921	G	A	G73222921A	PSEN1	NM_000021.4(PSEN1):c.*3632G>A	noncoding	Benign/Likely_benign
14	73222926	C	T	C73222926T	PSEN1	NM_000021.4(PSEN1):c.*3637C>T	noncoding	Benign/Likely_benign
14	73223011	C	T	C73223011T	PSEN1	NM_000021.4(PSEN1):c.*3722C>T	noncoding	Benign
14	73223112	G	A	G73223112A	PSEN1	NM_000021.4(PSEN1):c.*3823G>A	noncoding	Benign/Likely_benign
14	73223120	C	T	C73223120T	PSEN1	NM_000021.4(PSEN1):c.*3831C>T	noncoding	Benign/Likely_benign
14	73223178	G	A	G73223178A	PSEN1	NM_000021.4(PSEN1):c.*3889G>A	noncoding	Benign/Likely_benign
14	73223319	A	G	A73223319G	PSEN1	NM_000021.4(PSEN1):c.*4030A>G	noncoding	Benign/Likely_benign
14	73223436	T	G	T73223436G	PSEN1	NM_000021.4(PSEN1):c.*4147T>G	noncoding	Benign/Likely_benign
14	73260740	G	A	G73260740A	PAPLN	NM_001365906.3(PAPLN):c.2017G>A:p.Ala673Thr	coding	Benign
14	73266577	G	A	G73266577A	PAPLN	NM_001365906.3(PAPLN):c.3340G>A:p.Ala1114Thr	coding	Benign
14	73276659	A	G	A73276659G	NUMB	NM_001005743.1(NUMB):c.1875T>C:p.Asn625=	coding	Benign
14	73282366	G	A	G73282366A	NUMB	NM_001005743.1(NUMB):c.1089C>T:p.Thr363=	coding	Benign
14	73292839	A	G	A73292839G	NUMB	NM_001005743.1(NUMB):c.345T>C:p.Ser115=	coding	Benign
14	73491111	C	A	C73491111A	RIOX1	NM_024644.5(RIOX1):c.94C>A:p.Leu32Met	coding	Benign
14	73492604	C	G	C73492604G	RIOX1	NM_024644.5(RIOX1):c.1587C>G:p.Arg529=	coding	Benign
14	73537571	G	A	G73537571A	ACOT1	NM_001037161.2(ACOT1):c.150G>A:p.Ala50=	coding	Benign
14	73543213	T	C	T73543213C	ACOT1	NM_001037161.2(ACOT1):c.824T>C:p.Val275Ala	coding	Benign
14	73543216	G	C	G73543216C	ACOT1	NM_001037161.2(ACOT1):c.827G>C:p.Gly276Ala	coding	Benign
14	73575044	A	G	A73575044G	ACOT2	NM_006821.5(ACOT2):c.983A>G:p.His328Arg	coding	Benign
14	73654894	A	G	A73654894G	DNAL1	NM_031427.4(DNAL1):c.42+9A>G	noncoding	Benign
14	73661975	G	C	G73661975C	DNAL1	NM_031427.4(DNAL1):c.153-12G>C	noncoding	Benign
14	73687394	A	G	A73687394G	DNAL1	NM_031427.4(DNAL1):c.391+9A>G	noncoding	Benign
14	73689432	A	G	A73689432G	DNAL1	NM_031427.4(DNAL1):c.449A>G:p.Asn150Ser	coding	Pathogenic
14	73689469	G	A	G73689469A	DNAL1	NM_031427.4(DNAL1):c.486G>A:p.Trp162Ter	coding	Pathogenic
14	73689526	C	T	C73689526T	DNAL1	NM_031427.4(DNAL1):c.532+11C>T	noncoding	Benign
14	73950079	T	G	T73950079G	COQ6	NM_152445.3(FAM161B):c.-53A>C	coding	Benign
14	73950129	G	T	G73950129T	COQ6	NM_182480.3(COQ6):c.37G>T:p.Val13Phe	coding	Benign
14	73950133	G	A	G73950133A	COQ6	NM_182480.3(COQ6):c.41G>A:p.Trp14Ter	coding	Benign
14	73950293	G	T	G73950293T	COQ6	NM_182480.3(COQ6):c.88+113G>T	coding	Benign
14	73950477	G	T	G73950477T	COQ6	NM_182476.3(COQ6):c.145G>T:p.Ala49Ser	coding	Benign
14	73950506	C	T	C73950506T	COQ6	NM_182476.3(COQ6):c.163+11C>T	noncoding	Benign
14	73953122	G	A	G73953122A	COQ6	NM_182476.3(COQ6):c.164-313G>A	noncoding	Benign
14	73953424	C	T	C73953424T	COQ6	NM_182476.3(COQ6):c.164-11C>T	noncoding	Benign
14	73953549	G	A	G73953549A	COQ6	NM_182476.3(COQ6):c.278G>A:p.Gly93Asp	coding	Benign
14	73953737	C	A	C73953737A	COQ6	NM_182476.3(COQ6):c.298+168C>A	noncoding	Benign
14	73955900	T	C	T73955900C	COQ6	NM_182476.3(COQ6):c.453T>C:p.Ala151=	coding	Benign
14	73956140	T	C	T73956140C	COQ6	NM_182476.3(COQ6):c.481+212T>C	noncoding	Benign
14	73958149	C	T	C73958149T	COQ6	NM_182476.3(COQ6):c.484C>T:p.Arg162Ter	coding	Pathogenic
14	73958229	G	A	G73958229A	COQ6	NM_182476.3(COQ6):c.564G>A:p.Trp188Ter	coding	Pathogenic
14	73958235	T	C	T73958235C	COQ6	NM_182476.3(COQ6):c.570T>C:p.His190=	coding	Benign
14	73959204	G	A	G73959204A	COQ6	NM_182476.3(COQ6):c.763G>A:p.Gly255Arg	coding	Pathogenic
14	73959223	C	T	C73959223T	COQ6	NM_182476.3(COQ6):c.782C>T:p.Pro261Leu	coding	Pathogenic
14	73959474	A	G	A73959474G	COQ6	NM_182476.3(COQ6):c.843A>G:p.Leu281=	coding	Benign
14	73960971	C	T	C73960971T	COQ6	NM_182476.3(COQ6):c.892-202C>T	noncoding	Benign
14	73961297	A	T	A73961297T	COQ6	NM_182476.3(COQ6):c.1016A>T:p.Asp339Val	coding	Benign
14	73961339	C	A	C73961339A	COQ6	NM_182476.3(COQ6):c.1058C>A:p.Ala353Asp	coding	Pathogenic
14	73961544	C	T	C73961544T	COQ6	NM_182476.3(COQ6):c.1184C>T:p.Thr395Met	coding	Benign
14	73961583	A	G	A73961583G	COQ6	NM_182476.3(COQ6):c.1210+13A>G	noncoding	Benign
14	73961742	G	A	G73961742A	COQ6	NM_182476.3(COQ6):c.1216G>A:p.Val406Met	coding	Benign
14	73961761	A	G	A73961761G	COQ6	NM_182476.3(COQ6):c.1235A>G:p.Tyr412Cys	coding	Pathogenic
14	73961763	G	T	G73961763T	COQ6	NM_182476.3(COQ6):c.1237G>T:p.Glu413Ter	coding	Pathogenic
14	73961845	C	A	C73961845A	COQ6	NM_182476.3(COQ6):c.1319C>A:p.Pro440Gln	coding	Benign
14	73961867	G	A	G73961867A	COQ6	NM_182476.3(COQ6):c.1341G>A:p.Trp447Ter	coding	Pathogenic
14	73962148	A	G	A73962148G	COQ6	NM_182476.3(COQ6):c.1377+245A>G	noncoding	Benign
14	74057648	T	G	T74057648G	ALDH6A1	NM_005589.4(ALDH6A1):c.*2994A>C	noncoding	Benign
14	74057826	A	G	A74057826G	ALDH6A1	NM_005589.4(ALDH6A1):c.*2816T>C	coding	Benign
14	74057962	T	C	T74057962C	ALDH6A1	NM_005589.4(ALDH6A1):c.*2680A>G	coding	Benign
14	74058485	G	A	G74058485A	ALDH6A1	NM_005589.4(ALDH6A1):c.*2157C>T	coding	Benign
14	74058708	A	G	A74058708G	ALDH6A1	NM_005589.4(ALDH6A1):c.*1934T>C	coding	Benign
14	74059019	G	A	G74059019A	ALDH6A1	NM_005589.4(ALDH6A1):c.*1623C>T	coding	Benign
14	74059128	T	C	T74059128C	ALDH6A1	NM_005589.4(ALDH6A1):c.*1514A>G	coding	Benign
14	74060000	G	A	G74060000A	ALDH6A1	NM_005589.4(ALDH6A1):c.*642C>T	coding	Benign
14	74060487	A	G	A74060487G	ALDH6A1	NM_005589.4(ALDH6A1):c.*155T>C	coding	Benign
14	74060500	G	A	G74060500A	ALDH6A1	NM_005589.4(ALDH6A1):c.*142C>T	coding	Benign
14	74060646	C	T	C74060646T	ALDH6A1	NM_005589.4(ALDH6A1):c.1604G>A:p.Arg535His	coding	Benign
14	74064870	G	A	G74064870A	ALDH6A1	NM_005589.4(ALDH6A1):c.1455C>T:p.Thr485=	coding	Benign
14	74065249	C	T	C74065249T	ALDH6A1	NM_005589.4(ALDH6A1):c.1336G>A:p.Gly446Arg	coding	Pathogenic
14	74065324	G	A	G74065324A	ALDH6A1	NM_005589.4(ALDH6A1):c.1261C>T:p.Pro421Ser	coding	Pathogenic
14	74066773	G	A	G74066773A	ALDH6A1;BBOF1	NM_005589.4(ALDH6A1):c.1156C>T:p.Arg386Ter	coding	Pathogenic
14	74068927	G	T	G74068927T	ALDH6A1	NM_005589.4(ALDH6A1):c.785C>A:p.Ser262Tyr	coding	Pathogenic
14	74068993	A	G	A74068993G	ALDH6A1	NM_005589.4(ALDH6A1):c.731-12T>C	noncoding	Benign
14	74071182	T	G	T74071182G	ALDH6A1	NM_005589.4(ALDH6A1):c.730+13A>C	noncoding	Benign
14	74071289	C	T	C74071289T	ALDH6A1	NM_005589.4(ALDH6A1):c.636G>A:p.Glu212=	coding	Benign/Likely_benign
14	74071411	A	G	A74071411G	ALDH6A1	NM_005589.4(ALDH6A1):c.514T>C:p.Tyr172His	coding	Pathogenic
14	74071909	T	C	T74071909C	ALDH6A1	NM_005589.4(ALDH6A1):c.414A>G:p.Val138=	coding	Benign/Likely_benign
14	74072530	C	T	C74072530T	ALDH6A1	NM_005589.4(ALDH6A1):c.186+7G>A	noncoding	Benign
14	74072539	G	A	G74072539A	ALDH6A1	NM_005589.4(ALDH6A1):c.184C>T:p.Pro62Ser	coding	Pathogenic
14	74072622	C	A	C74072622A	ALDH6A1	NM_005589.4(ALDH6A1):c.112-11G>T	noncoding	Benign
14	74241208	C	T	C74241208T	VSX2	NM_182894.3(VSX2):c.397C>T:p.Arg133Ter	coding	Pathogenic
14	74245180	C	T	C74245180T	VSX2	NM_182894.3(VSX2):c.471C>T:p.Ser157=	coding	Benign
14	74245231	C	T	C74245231T	VSX2	NM_182894.3(VSX2):c.522C>T:p.Asp174=	coding	Benign/Likely_benign
14	74259621	G	A	G74259621A	VSX2	NM_182894.3(VSX2):c.599G>A:p.Arg200Gln	coding	Pathogenic
14	74259621	G	C	G74259621C	VSX2	NM_182894.3(VSX2):c.599G>C:p.Arg200Pro	coding	Pathogenic
14	74259631	G	A	G74259631A	VSX2	NM_182894.3(VSX2):c.609G>A:p.Trp203Ter	coding	Pathogenic
14	74260664	G	A	G74260664A	VSX2	NM_182894.3(VSX2):c.831G>A:p.Leu277=	coding	Benign/Likely_benign
14	74260704	G	A	G74260704A	VSX2	NM_182894.3(VSX2):c.871G>A:p.Asp291Asn	coding	Benign
14	74260958	C	T	C74260958T	VSX2	NM_182894.3(VSX2):c.*39C>T	noncoding	Benign/Likely_benign
14	74261374	C	T	C74261374T	VSX2	NM_182894.3(VSX2):c.*455C>T	noncoding	Benign
14	74261498	C	T	C74261498T	VSX2	NM_182894.3(VSX2):c.*579C>T	noncoding	Benign
14	74261589	G	A	G74261589A	VSX2	NM_182894.3(VSX2):c.*670G>A	noncoding	Benign/Likely_benign
14	74261993	C	T	C74261993T	VSX2	NM_182894.3(VSX2):c.*1074C>T	noncoding	Benign/Likely_benign
14	74262221	G	A	G74262221A	VSX2	NM_182894.3(VSX2):c.*1302G>A	noncoding	Benign
14	74286696	G	A	G74286696A	ABCD4	NM_005050.4(ABCD4):c.1752+5C>T	noncoding	Benign
14	74286717	C	T	C74286717T	ABCD4	NM_005050.4(ABCD4):c.1736G>A:p.Arg579Gln	coding	Benign/Likely_benign
14	74287800	G	A	G74287800A	ABCD4	NM_005050.4(ABCD4):c.1636+10C>T	noncoding	Benign
14	74287858	G	A	G74287858A	ABCD4	NM_005050.4(ABCD4):c.1588C>T:p.Gln530Ter	coding	Pathogenic
14	74287898	T	G	T74287898G	ABCD4	NM_005050.4(ABCD4):c.1560-12A>C	noncoding	Benign
14	74288233	G	A	G74288233A	ABCD4	NM_005050.4(ABCD4):c.1533C>T:p.Gly511=	coding	Benign
14	74290316	C	T	C74290316T	ABCD4	NM_005050.4(ABCD4):c.1302G>A:p.Leu434=	coding	Benign
14	74292303	C	T	C74292303T	ABCD4	NM_005050.4(ABCD4):c.1102G>A:p.Glu368Lys	coding	Benign
14	74292356	G	C	G74292356C	ABCD4	NM_005050.4(ABCD4):c.1049C>G:p.Thr350Arg	coding	Benign
14	74292362	C	T	C74292362T	ABCD4	NM_005050.4(ABCD4):c.1043G>A:p.Arg348Gln	coding	Benign/Likely_benign
14	74292363	G	A	G74292363A	ABCD4	NM_005050.4(ABCD4):c.1042C>T:p.Arg348Trp	coding	Benign
14	74292545	C	A	C74292545A	ABCD4	NM_005050.4(ABCD4):c.1028+6G>T	noncoding	Benign
14	74292556	C	T	C74292556T	ABCD4	NM_005050.4(ABCD4):c.1023G>A:p.Thr341=	coding	Benign
14	74292598	G	T	G74292598T	ABCD4	NM_005050.4(ABCD4):c.981C>A:p.Leu327=	coding	Benign
14	74292774	C	T	C74292774T	ABCD4	NM_005050.4(ABCD4):c.910G>A:p.Ala304Thr	coding	Benign
14	74292826	G	A	G74292826A	ABCD4	NM_005050.4(ABCD4):c.858C>T:p.Tyr286=	coding	Benign
14	74292882	C	G	C74292882G	ABCD4	NM_005050.4(ABCD4):c.815-13G>C	noncoding	Benign
14	74293212	C	T	C74293212T	ABCD4	NM_005050.4(ABCD4):c.756G>A:p.Arg252=	coding	Benign/Likely_benign
14	74295204	C	A	C74295204A	ABCD4	NM_005050.4(ABCD4):c.669-6G>T	noncoding	Benign
14	74295211	A	C	A74295211C	ABCD4	NM_005050.4(ABCD4):c.669-13T>G	noncoding	Benign
14	74295847	G	A	G74295847A	ABCD4	NM_005050.4(ABCD4):c.668+7C>T	noncoding	Benign
14	74296332	C	A	C74296332A	ABCD4	NM_005050.4(ABCD4):c.542+1G>T	noncoding	Pathogenic
14	74296361	C	T	C74296361T	ABCD4	NM_005050.4(ABCD4):c.514G>A:p.Val172Ile	coding	Benign
14	74296383	G	C	G74296383C	ABCD4	NM_005050.4(ABCD4):c.492C>G:p.Leu164=	coding	Benign
14	74297972	G	A	G74297972A	ABCD4	NM_005050.4(ABCD4):c.383C>T:p.Ala128Val	coding	Benign
14	74299638	A	G	A74299638G	ABCD4	NM_005050.4(ABCD4):c.195T>C:p.Ser65=	coding	Benign
14	74299649	A	G	A74299649G	ABCD4	NM_005050.4(ABCD4):c.184T>C:p.Leu62=	coding	Benign
14	74299657	T	C	T74299657C	ABCD4	NM_005050.4(ABCD4):c.176A>G:p.Gln59Arg	coding	Benign
14	74302903	C	G	C74302903G	ABCD4	NM_005050.4(ABCD4):c.10G>C:p.Ala4Pro	coding	Benign
14	74357767	C	T	C74357767T	VRTN	NM_018228.3(VRTN):c.984C>T:p.Gly328=	coding	Benign
14	74358253	C	A	C74358253A	VRTN	NM_018228.3(VRTN):c.1470C>A:p.Asp490Glu	coding	Benign
14	74480003	G	A	G74480003A	NPC2	NM_006432.4(NPC2):c.*271C>T	noncoding	Benign
14	74480265	A	G	A74480265G	NPC2	NM_006432.4(NPC2):c.*9T>C	noncoding	Benign/Likely_benign
14	74480292	T	G	T74480292G	NPC2	NM_006432.4(NPC2):c.442-4A>C	noncoding	Benign
14	74484261	T	C	T74484261C	NPC2	NM_006432.4(NPC2):c.363+154A>G	noncoding	Benign
14	74484420	G	A	G74484420A	NPC2	NM_006432.4(NPC2):c.358C>T:p.Pro120Ser	coding	Pathogenic
14	74484426	C	A	C74484426A	NPC2	NM_006432.4(NPC2):c.352G>T:p.Glu118Ter	coding	Pathogenic
14	74484483	A	G	A74484483G	NPC2	NM_006432.4(NPC2):c.295T>C:p.Cys99Arg	coding	Pathogenic
14	74484579	A	G	A74484579G	NPC2	NM_006432.4(NPC2):c.199T>C:p.Ser67Pro	coding	Pathogenic
14	74486315	C	T	C74486315T	NPC2	NM_006432.4(NPC2):c.190+14G>A	noncoding	Benign/Likely_benign
14	74486362	G	A	G74486362A	NPC2	NM_006432.5(NPC2):c.157C>T:p.Gln53Ter	coding	Pathogenic
14	74486378	G	T	G74486378T	NPC2	NM_006432.4(NPC2):c.141C>A:p.Cys47Ter	coding	Pathogenic
14	74486386	G	A	G74486386A	NPC2	NM_006432.4(NPC2):c.133C>T:p.Gln45Ter	coding	Pathogenic/Likely_pathogenic
14	74486404	C	T	C74486404T	NPC2	NM_006432.4(NPC2):c.115G>A:p.Val39Met	coding	Pathogenic
14	74486431	C	T	C74486431T	ACYP1;NPC2	NM_006432.4(NPC2):c.88G>A:p.Val30Met	coding	Benign/Likely_benign
14	74493191	A	G	A74493191G	NPC2	NM_006432.4(NPC2):c.82+2T>C	noncoding	Pathogenic
14	74493217	C	A	C74493217A	NPC2	NM_006432.4(NPC2):c.58G>T:p.Glu20Ter	coding	Pathogenic
14	74493272	C	G	C74493272G	NPC2	NM_006432.4(NPC2):c.3G>C:p.Met1Ile	coding	Pathogenic
14	74493739	C	A	C74493739A	ISCA2	NM_001272007.1(ISCA2):c.-36C>A	noncoding	Benign
14	74494329	G	A	G74494329A	ISCA2	NM_194279.4(ISCA2):c.229G>A:p.Gly77Ser	coding	Pathogenic/Likely_pathogenic
14	74494400	A	C	A74494400C	ISCA2	NM_194279.4(ISCA2):c.290+10A>C	noncoding	Benign
14	74494649	C	T	C74494649T	ISCA2	NM_194279.4(ISCA2):c.291-177C>T	noncoding	Benign
14	74494869	A	G	A74494869G	ISCA2	NM_194279.4(ISCA2):c.334A>G:p.Ser112Gly	coding	Pathogenic
14	74498421	C	A	C74498421A	LTBP2	NM_000428.3(LTBP2):c.*2463G>T	noncoding	Benign/Likely_benign
14	74498731	A	G	A74498731G	LTBP2	NM_000428.3(LTBP2):c.*2153T>C	noncoding	Benign/Likely_benign
14	74498840	C	T	C74498840T	LTBP2	NM_000428.3(LTBP2):c.*2044G>A	noncoding	Benign/Likely_benign
14	74498927	T	C	T74498927C	LTBP2	NM_000428.3(LTBP2):c.*1957A>G	noncoding	Benign
14	74499011	G	C	G74499011C	LTBP2	NM_000428.3(LTBP2):c.*1873C>G	noncoding	Benign/Likely_benign
14	74499066	G	A	G74499066A	LTBP2	NM_000428.3(LTBP2):c.*1818C>T	noncoding	Benign
14	74500060	G	A	G74500060A	LTBP2	NM_000428.3(LTBP2):c.*824C>T	noncoding	Benign
14	74502912	G	A	G74502912A	LTBP2	NM_000428.3(LTBP2):c.4911C>T:p.Asn1637=	coding	Benign/Likely_benign
14	74502918	C	G	C74502918G	LTBP2	NM_000428.3(LTBP2):c.4905G>C:p.Leu1635=	coding	Benign/Likely_benign
14	74503252	G	A	G74503252A	LTBP2	NM_000428.3(LTBP2):c.4855C>T:p.Gln1619Ter	coding	Pathogenic
14	74503325	C	T	C74503325T	LTBP2	NM_000428.3(LTBP2):c.4782G>A:p.Val1594=	coding	Benign
14	74504996	C	T	C74504996T	LTBP2	NM_000428.3(LTBP2):c.4356G>A:p.Pro1452=	coding	Benign
14	74505039	C	T	C74505039T	LTBP2	NM_000428.3(LTBP2):c.4313G>A:p.Cys1438Tyr	coding	Pathogenic
14	74505066	C	T	C74505066T	LTBP2	NM_000428.3(LTBP2):c.4286G>A:p.Arg1429Gln	coding	Benign/Likely_benign
14	74505089	C	T	C74505089T	LTBP2	NM_000428.3(LTBP2):c.4263G>A:p.Ala1421=	coding	Benign/Likely_benign
14	74505151	T	C	T74505151C	LTBP2	NM_000428.3(LTBP2):c.4201A>G:p.Thr1401Ala	coding	Benign
14	74505178	T	C	T74505178C	LTBP2	NM_000428.3(LTBP2):c.4178-4A>G	noncoding	Benign
14	74506136	G	A	G74506136A	LTBP2	NM_000428.3(LTBP2):c.4089C>T:p.Asn1363=	coding	Benign/Likely_benign
14	74507234	G	A	G74507234A	LTBP2	NM_000428.3(LTBP2):c.3852C>T:p.Arg1284=	coding	Benign/Likely_benign
14	74508083	C	A	C74508083A	LTBP2	NM_000428.3(LTBP2):c.3665G>T:p.Cys1222Phe	coding	Benign
14	74508727	C	T	C74508727T	LTBP2	NM_000428.3(LTBP2):c.3529G>A:p.Val1177Met	coding	Pathogenic
14	74508888	G	A	G74508888A	LTBP2	NM_000428.3(LTBP2):c.3468C>T:p.Gly1156=	coding	Benign
14	74509308	C	T	C74509308T	LTBP2	NM_000428.3(LTBP2):c.3333G>A:p.Thr1111=	coding	Benign
14	74509749	C	T	C74509749T	LTBP2	NM_000428.3(LTBP2):c.3262G>A:p.Gly1088Ser	coding	Benign
14	74510149	G	A	G74510149A	LTBP2	NM_000428.3(LTBP2):c.3093C>T:p.Ser1031=	coding	Benign/Likely_benign
14	74521898	G	A	G74521898A	LTBP2	NM_000428.3(LTBP2):c.2788+13C>T	noncoding	Benign
14	74521984	G	A	G74521984A	LTBP2	NM_000428.3(LTBP2):c.2715C>T:p.Arg905=	coding	Benign/Likely_benign
14	74526097	A	G	A74526097G	LTBP2	NM_000428.3(LTBP2):c.2406T>C:p.Thr802=	coding	Benign
14	74528645	C	T	C74528645T	LTBP2	NM_000428.3(LTBP2):c.2206G>A:p.Asp736Asn	coding	Benign
14	74535993	C	T	C74535993T	LTBP2	NM_000428.3(LTBP2):c.1797G>A:p.Pro599=	coding	Benign
14	74551108	G	A	G74551108A	LTBP2	NM_000428.3(LTBP2):c.1642C>T:p.Arg548Ter	coding	Pathogenic
14	74551197	C	A	C74551197A	LTBP2	NM_000428.3(LTBP2):c.1553G>T:p.Ser518Ile	coding	Benign/Likely_benign
14	74552215	A	G	A74552215G	LTBP2	NM_000428.3(LTBP2):c.1371T>C:p.Thr457=	coding	Benign
14	74552277	C	T	C74552277T	LTBP2	NM_000428.3(LTBP2):c.1309G>A:p.Glu437Lys	coding	Benign
14	74552299	C	T	C74552299T	LTBP2	NM_000428.3(LTBP2):c.1287G>A:p.Leu429=	coding	Benign
14	74555489	C	T	C74555489T	LTBP2	NM_000428.3(LTBP2):c.1021+14G>A	noncoding	Benign/Likely_benign
14	74555568	G	T	G74555568T	LTBP2	NM_000428.3(LTBP2):c.956C>A:p.Pro319Gln	coding	Benign
14	74555573	C	T	C74555573T	LTBP2	NM_000428.3(LTBP2):c.951G>A:p.Pro317=	coding	Benign
14	74555609	C	T	C74555609T	LTBP2	NM_000428.3(LTBP2):c.915G>A:p.Thr305=	coding	Benign/Likely_benign
14	74555629	G	A	G74555629A	LTBP2	NM_000428.3(LTBP2):c.895C>T:p.Arg299Ter	coding	Pathogenic
14	74585899	G	A	G74585899A	LTBP2	NM_000428.3(LTBP2):c.785C>T:p.Pro262Leu	coding	Benign
14	74611614	G	A	G74611614A	LTBP2	NM_000428.3(LTBP2):c.331C>T:p.Gln111Ter	coding	Pathogenic
14	74611835	C	A	C74611835A	LTBP2	NM_000428.3(LTBP2):c.110G>T:p.Arg37Met	coding	Benign/Likely_benign
14	74612176	C	T	C74612176T	LTBP2	NM_000428.3(LTBP2):c.-232G>A	noncoding	Benign
14	74763951	T	A	T74763951A	YLPM1	NM_019589.3(YLPM1):c.462T>A:p.Pro154=	coding	Benign
14	74781398	A	T	A74781398T	YLPM1	NM_019589.3(YLPM1):c.1355A>T:p.Tyr452Phe	coding	Benign
14	74862615	T	C	T74862615C	PROX2	NM_001243007.1(PROX2):c.1220A>G:p.Glu407Gly	coding	Benign
14	74863455	T	C	T74863455C	PROX2	NM_001243007.1(PROX2):c.380A>G:p.Lys127Arg	coding	Benign
14	74863502	C	T	C74863502T	PROX2	NM_001243007.1(PROX2):c.333G>A:p.Pro111=	coding	Benign
14	74901127	G	A	G74901127A	DLST	NM_001933.5(DLST):c.1121G>A:p.Gly374Glu	coding	Pathogenic
14	75002993	G	T	G75002993T	EIF2B2	NM_014239.4(EIF2B2):c.3G>T:p.Met1Ile	coding	Pathogenic
14	75003054	C	T	C75003054T	EIF2B2	NM_014239.4(EIF2B2):c.64C>T:p.Leu22=	coding	Benign
14	75003066	G	C	G75003066C	EIF2B2	NM_014239.4(EIF2B2):c.76G>C:p.Gly26Arg	coding	Benign
14	75003365	T	A	T75003365A	EIF2B2	NM_014239.4(EIF2B2):c.254T>A:p.Val85Glu	coding	Pathogenic
14	75003743	C	A	C75003743A	EIF2B2	NM_014239.4(EIF2B2):c.433+44C>A	noncoding	Benign
14	75004726	C	T	C75004726T	EIF2B2	NM_014239.4(EIF2B2):c.434-11C>T	noncoding	Benign
14	75004815	C	T	C75004815T	EIF2B2	NM_014239.4(EIF2B2):c.512C>T:p.Ser171Phe	coding	Pathogenic
14	75004850	C	T	C75004850T	EIF2B2	NM_014239.4(EIF2B2):c.547C>T:p.Arg183Ter	coding	Pathogenic
14	75005867	G	T	G75005867T	EIF2B2	NM_014239.4(EIF2B2):c.599G>T:p.Gly200Val	coding	Pathogenic/Likely_pathogenic
14	75005906	A	G	A75005906G	EIF2B2	NM_014239.4(EIF2B2):c.638A>G:p.Glu213Gly	coding	Pathogenic
14	75006701	A	G	A75006701G	EIF2B2	NM_014239.4(EIF2B2):c.818A>G:p.Lys273Arg	coding	Pathogenic
14	75009020	T	G	T75009020G	EIF2B2	NM_014239.4(EIF2B2):c.899-11T>G	noncoding	Benign
14	75009054	G	A	G75009054A	EIF2B2	NM_014239.4(EIF2B2):c.922G>A:p.Val308Met	coding	Pathogenic
14	75009114	A	G	A75009114G	EIF2B2	NM_014239.4(EIF2B2):c.982A>G:p.Ile328Val	coding	Benign
14	75009368	G	C	G75009368C	EIF2B2;MLH3	NM_014239.4(EIF2B2):c.*180G>C	noncoding	Benign/Likely_benign
14	75013934	T	C	T75013934C	EIF2B2;MLH3	NM_001040108.1(MLH3):c.*3148A>G	noncoding	Benign/Likely_benign
14	75014117	G	A	G75014117A	EIF2B2;MLH3	NM_001040108.1(MLH3):c.*2965C>T	noncoding	Benign/Likely_benign
14	75014665	C	T	C75014665T	MLH3	NM_001040108.1(MLH3):c.*2417G>A	noncoding	Benign
14	75015205	A	G	A75015205G	MLH3	NM_001040108.1(MLH3):c.*1877T>C	noncoding	Benign
14	75016124	C	A	C75016124A	MLH3	NM_001040108.1(MLH3):c.*958G>T	noncoding	Benign
14	75016125	G	T	G75016125T	MLH3	NM_001040108.1(MLH3):c.*957C>A	noncoding	Benign
14	75017109	T	C	T75017109C	MLH3	NM_001040108.1(MLH3):c.4335A>G:p.Gln1445=	coding	Benign
14	75030536	G	T	G75030536T	MLH3	NM_001040108.1(MLH3):c.3987+7C>A	noncoding	Benign
14	75032111	G	A	G75032111A	MLH3	NM_001040108.1(MLH3):c.3784C>T:p.Pro1262Ser	coding	Benign/Likely_benign
14	75032149	G	A	G75032149A	MLH3	NM_001040108.1(MLH3):c.3746C>T:p.Ser1249Phe	coding	Benign/Likely_benign
14	75039993	C	T	C75039993T	MLH3	NM_001040108.1(MLH3):c.3488G>A:p.Gly1163Asp	coding	Benign
14	75042443	G	T	G75042443T	MLH3	NM_001040108.1(MLH3):c.3315C>A:p.Asp1105Glu	coding	Benign/Likely_benign
14	75042446	G	A	G75042446A	MLH3	NM_001040108.1(MLH3):c.3312C>T:p.Ser1104=	coding	Benign/Likely_benign
14	75046439	C	T	C75046439T	MLH3	NM_001040108.1(MLH3):c.3217G>A:p.Asp1073Asn	coding	Benign/Likely_benign
14	75046732	T	C	T75046732C	MLH3	NM_001040108.1(MLH3):c.2924A>G:p.Asn975Ser	coding	Benign/Likely_benign
14	75046760	A	G	A75046760G	MLH3	NM_001040108.1(MLH3):c.2896T>C:p.Ser966Pro	coding	Benign/Likely_benign
14	75046831	G	A	G75046831A	MLH3	NM_001040108.1(MLH3):c.2825C>T:p.Thr942Ile	coding	Benign/Likely_benign
14	75047123	T	C	T75047123C	MLH3	NM_001040108.1(MLH3):c.2533A>G:p.Ser845Gly	coding	Benign/Likely_benign
14	75047125	G	A	G75047125A	MLH3	NM_001040108.1(MLH3):c.2531C>T:p.Pro844Leu	coding	Benign
14	75047166	A	C	A75047166C	MLH3	NM_001040108.1(MLH3):c.2490T>G:p.Phe830Leu	coding	Benign/Likely_benign
14	75047174	C	A	C75047174A	MLH3	NM_014381.3(MLH3):c.2482G>T:p.Glu828Ter	coding	Pathogenic
14	75047180	T	C	T75047180C	MLH3	NM_001040108.1(MLH3):c.2476A>G:p.Asn826Asp	coding	Benign
14	75047266	C	T	C75047266T	MLH3	NM_001040108.1(MLH3):c.2390G>A:p.Arg797His	coding	Benign
14	75047435	C	A	C75047435A	AREL1;MLH3	NM_001040108.1(MLH3):c.2221G>T:p.Val741Phe	coding	Benign/Likely_benign
14	75047435	C	T	C75047435T	MLH3	NM_001040108.2(MLH3):c.2221G>A:p.Val741Ile	coding	Benign
14	75047489	C	T	C75047489T	MLH3	NM_001040108.1(MLH3):c.2167G>A:p.Val723Ile	coding	Benign/Likely_benign
14	75047497	T	C	T75047497C	MLH3	NM_001040108.1(MLH3):c.2159A>G:p.Tyr720Cys	coding	Benign/Likely_benign
14	75047613	A	G	A75047613G	MLH3	NM_001040108.1(MLH3):c.2043T>C:p.Tyr681=	coding	Benign
14	75047786	C	G	C75047786G	MLH3	NM_001040108.1(MLH3):c.1870G>C:p.Glu624Gln	coding	Benign/Likely_benign
14	75047857	C	T	C75047857T	MLH3	NM_001040108.1(MLH3):c.1799G>A:p.Arg600Gln	coding	Benign
14	75048156	C	T	C75048156T	MLH3	NM_001040108.1(MLH3):c.1500G>A:p.Pro500=	coding	Benign
14	75048398	C	T	C75048398T	MLH3	NM_001040108.1(MLH3):c.1258G>A:p.Val420Ile	coding	Benign/Likely_benign
14	75048819	G	A	G75048819A	MLH3	NM_001040108.1(MLH3):c.837C>T:p.Cys279=	coding	Benign/Likely_benign
14	75048921	G	A	G75048921A	MLH3	NM_001040108.1(MLH3):c.735C>T:p.Tyr245=	coding	Benign
14	75048965	T	G	T75048965G	MLH3	NM_001040108.1(MLH3):c.691A>C:p.Lys231Gln	coding	Benign/Likely_benign
14	75048990	C	T	C75048990T	MLH3	NM_001040108.1(MLH3):c.666G>A:p.Lys222=	coding	Benign/Likely_benign
14	75049212	C	G	C75049212G	MLH3	NM_001040108.1(MLH3):c.444G>C:p.Val148=	coding	Benign
14	75049227	C	T	C75049227T	MLH3	NM_001040108.1(MLH3):c.429G>A:p.Gly143=	coding	Benign/Likely_benign
14	75049248	A	G	A75049248G	MLH3	NM_001040108.1(MLH3):c.408T>C:p.Asp136=	coding	Benign/Likely_benign
14	75049326	C	T	C75049326T	MLH3	NM_001040108.1(MLH3):c.330G>A:p.Ser110=	coding	Benign
14	75049648	T	C	T75049648C	MLH3	NM_001040108.1(MLH3):c.8A>G:p.Lys3Arg	coding	Benign/Likely_benign
14	75084618	T	G	T75084618G	NEK9	NM_033116.6(NEK9):c.2886A>C:p.Leu962Phe	coding	Benign
14	75088602	G	T	G75088602T	NEK9	NM_033116.6(NEK9):c.2482C>A:p.Pro828Thr	coding	Benign
14	75091355	C	T	C75091355T	NEK9	NM_033116.6(NEK9):c.2357G>A:p.Arg786Gln	coding	Benign
14	75091441	G	A	G75091441A	NEK9	NM_033116.6(NEK9):c.2271C>T:p.Gly757=	coding	Benign
14	75097231	C	T	C75097231T	NEK9	NM_033116.6(NEK9):c.2042G>A:p.Arg681His	coding	Pathogenic
14	75103855	A	G	A75103855G	NEK9	NM_033116.4(NEK9):c.1817T>C:p.Ile573Thr	coding	Pathogenic
14	75106541	G	A	G75106541A	NEK9	NM_033116.6(NEK9):c.1489C>T:p.Arg497Ter	coding	Pathogenic
14	75109817	A	G	A75109817G	NEK9	NM_033116.6(NEK9):c.1050T>C:p.Tyr350=	coding	Benign
14	75120534	A	G	A75120534G	NEK9	NM_033116.6(NEK9):c.500T>C:p.Ile167Thr	coding	Pathogenic
14	75124179	C	G	C75124179G	NEK9	NM_033116.6(NEK9):c.264G>C:p.Leu88=	coding	Benign
14	75124221	A	G	A75124221G	NEK9	NM_033116.6(NEK9):c.222T>C:p.Asp74=	coding	Benign
14	75126794	C	G	C75126794G	NEK9	NM_033116.6(NEK9):c.128G>C:p.Gly43Ala	coding	Benign
14	75279924	G	A	G75279924A	FOS	NM_005252.4(FOS):c.189G>A:p.Thr63=	coding	Benign
14	75280809	G	C	G75280809C	FOS	NM_005252.4(FOS):c.528G>C:p.Lys176Asn	coding	Benign
14	75281079	C	T	C75281079T	FOS	NM_005252.4(FOS):c.798C>T:p.Thr266=	coding	Benign
14	75281262	G	A	G75281262A	FOS	NM_005252.4(FOS):c.981G>A:p.Val327=	coding	Benign
14	75578617	G	C	G75578617C	FLVCR2	NM_017791.2(FLVCR2):c.-356G>C	noncoding	Benign
14	75578862	T	C	T75578862C	FLVCR2	NM_017791.3(FLVCR2):c.-111T>C	noncoding	Benign
14	75578877	T	C	T75578877C	FLVCR2	NM_017791.3(FLVCR2):c.-96T>C	noncoding	Benign
14	75578902	C	T	C75578902T	FLVCR2	NM_017791.3(FLVCR2):c.-71C>T	noncoding	Benign
14	75579019	T	C	T75579019C	FLVCR2	NM_017791.3(FLVCR2):c.47T>C:p.Val16Ala	coding	Benign
14	75579348	C	T	C75579348T	FLVCR2	NM_017791.3(FLVCR2):c.376C>T:p.Leu126=	coding	Benign
14	75579374	C	G	C75579374G	FLVCR2	NM_017791.3(FLVCR2):c.402C>G:p.Tyr134Ter	coding	Pathogenic
14	75579445	C	A	C75579445A	FLVCR2	NM_017791.3(FLVCR2):c.473C>A:p.Ser158Ter	coding	Pathogenic
14	75579515	G	A	G75579515A	FLVCR2	NM_017791.3(FLVCR2):c.543G>A:p.Val181=	coding	Benign
14	75579620	C	G	C75579620G	FLVCR2	NM_017791.3(FLVCR2):c.648C>G:p.Ser216=	coding	Benign
14	75624635	C	T	C75624635T	FLVCR2	NM_017791.3(FLVCR2):c.835C>T:p.Pro279Ser	coding	Benign
14	75624703	C	T	C75624703T	FLVCR2	NM_017791.3(FLVCR2):c.903C>T:p.Ile301=	coding	Benign
14	75633615	G	A	G75633615A	FLVCR2	NM_017791.3(FLVCR2):c.953-14G>A	noncoding	Benign
14	75633653	C	T	C75633653T	FLVCR2	NM_017791.3(FLVCR2):c.977C>T:p.Ala326Val	coding	Pathogenic
14	75639419	C	G	C75639419G	FLVCR2	NM_017791.3(FLVCR2):c.1192C>G:p.Leu398Val	coding	Pathogenic
14	75641008	C	G	C75641008G	FLVCR2	NM_017791.3(FLVCR2):c.1289C>G:p.Thr430Arg	coding	Pathogenic
14	75641008	C	T	C75641008T	FLVCR2	NM_017791.3(FLVCR2):c.1289C>T:p.Thr430Met	coding	Pathogenic
14	75641062	T	C	T75641062C	FLVCR2	NM_017791.3(FLVCR2):c.1341+2T>C	noncoding	Pathogenic
14	75641281	G	A	G75641281A	FLVCR2	NM_017791.3(FLVCR2):c.1441G>A:p.Ala481Thr	coding	Benign
14	75646726	T	C	T75646726C	FLVCR2	NM_017791.3(FLVCR2):c.*254T>C	noncoding	Benign
14	75647045	C	T	C75647045T	FLVCR2	NM_017791.3(FLVCR2):c.*573C>T	noncoding	Benign
14	75647382	C	A	C75647382A	FLVCR2	NM_017791.3(FLVCR2):c.*910C>A	noncoding	Benign
14	75647463	T	C	T75647463C	FLVCR2	NM_017791.3(FLVCR2):c.*991T>C	noncoding	Benign
14	75647512	C	T	C75647512T	FLVCR2	NM_017791.3(FLVCR2):c.*1040C>T	noncoding	Benign
14	75647570	C	A	C75647570A	FLVCR2	NM_017791.3(FLVCR2):c.*1098C>A	noncoding	Benign
14	75669526	C	T	C75669526T	TTLL5	NM_015072.5(TTLL5):c.181+4C>T	noncoding	Benign
14	75681574	C	T	C75681574T	TTLL5	NM_015072.5(TTLL5):c.211C>T:p.Arg71Ter	coding	Pathogenic/Likely_pathogenic
14	75690266	C	T	C75690266T	TTLL5	NM_015072.5(TTLL5):c.446C>T:p.Ala149Val	coding	Benign
14	75707062	C	A	C75707062A	TTLL5	NM_015072.5(TTLL5):c.630C>A:p.Tyr210Ter	coding	Pathogenic/Likely_pathogenic
14	75735139	G	T	G75735139T	TTLL5	NM_015072.5(TTLL5):c.1187-56G>T	noncoding	Benign
14	75745582	G	A	G75745582A	TTLL5	NM_015072.5(TTLL5):c.1487+1G>A	coding	Pathogenic
14	75764691	G	A	G75764691A	TTLL5	NM_015072.5(TTLL5):c.1627G>A:p.Glu543Lys	coding	Pathogenic
14	75764691	G	T	G75764691T	TTLL5	NM_015072.5(TTLL5):c.1627G>T:p.Glu543Ter	coding	Pathogenic
14	75766055	T	C	T75766055C	TTLL5	NM_015072.5(TTLL5):c.1709-7T>C	noncoding	Benign
14	75766126	C	T	C75766126T	TTLL5	NM_015072.5(TTLL5):c.1773C>T:p.Val591=	coding	Benign
14	75766127	G	A	G75766127A	TTLL5	NM_015072.5(TTLL5):c.1774G>A:p.Ala592Thr	coding	Benign
14	75766273	G	A	G75766273A	TTLL5	NM_015072.5(TTLL5):c.1920G>A:p.Trp640Ter	coding	Pathogenic
14	75766316	C	T	C75766316T	TTLL5	NM_015072.5(TTLL5):c.1963C>T:p.Leu655=	coding	Benign
14	75771747	C	T	C75771747T	TTLL5	NM_015072.5(TTLL5):c.2029C>T:p.Arg677Ter	coding	Pathogenic
14	75771855	G	A	G75771855A	TTLL5	NM_015072.5(TTLL5):c.2136+1G>A	coding	Pathogenic
14	75771860	G	C	G75771860C	TTLL5	NM_015072.5(TTLL5):c.2136+6G>C	noncoding	Benign
14	75775579	C	T	C75775579T	TTLL5	NM_015072.5(TTLL5):c.2232C>T:p.Arg744=	coding	Benign
14	75783173	G	A	G75783173A	TTLL5	NM_015072.5(TTLL5):c.2629G>A:p.Ala877Thr	coding	Benign
14	75783181	A	C	A75783181C	TTLL5	NM_015072.5(TTLL5):c.2637A>C:p.Leu879Phe	coding	Benign/Likely_benign
14	75863694	G	A	G75863694A	TTLL5	NM_015072.5(TTLL5):c.3354G>A:p.Trp1118Ter	coding	Pathogenic
14	75882706	C	T	C75882706T	TTLL5	NM_015072.5(TTLL5):c.3544C>T:p.Leu1182=	coding	Benign
14	75882829	G	T	G75882829T	TTLL5	NM_015072.5(TTLL5):c.3667G>T:p.Ala1223Ser	coding	Benign
14	75882861	C	T	C75882861T	TTLL5	NM_015072.5(TTLL5):c.3699C>T:p.His1233=	coding	Benign
14	75902178	G	A	G75902178A	TTLL5	NM_015072.5(TTLL5):c.3777G>A:p.Gln1259=	coding	Benign
14	75902201	T	C	T75902201C	TTLL5	NM_015072.5(TTLL5):c.3800T>C:p.Phe1267Ser	coding	Benign
14	75958692	G	A	G75958692A	TGFB3	NM_003239.4(TGFB3):c.*495C>T	noncoding	Pathogenic
14	75959178	C	T	C75959178T	TGFB3	NM_003239.4(TGFB3):c.*9G>A	noncoding	Benign/Likely_benign
14	75959200	C	T	C75959200T	TGFB3	NM_003239.4(TGFB3):c.1226G>A:p.Cys409Tyr	coding	Pathogenic
14	75959304	G	C	G75959304C	TGFB3	NM_003239.4(TGFB3):c.1122C>G:p.Ala374=	coding	Benign
14	75960969	G	C	G75960969C	TGFB3	NM_003239.4(TGFB3):c.1034C>G:p.Ser345Ter	coding	Pathogenic/Likely_pathogenic
14	75961014	C	T	C75961014T	TGFB3	NM_003239.4(TGFB3):c.989G>A:p.Trp330Ter	coding	Pathogenic
14	75963026	C	A	C75963026A	TGFB3	NM_003239.4(TGFB3):c.926+290G>T	noncoding	Benign
14	75963343	C	T	C75963343T	TGFB3	NM_003239.4(TGFB3):c.899G>A:p.Arg300Gln	coding	Pathogenic/Likely_pathogenic
14	75963344	G	A	G75963344A	TGFB3	NM_003239.4(TGFB3):c.898C>T:p.Arg300Trp	coding	Pathogenic/Likely_pathogenic
14	75963525	A	G	A75963525G	TGFB3	NM_003239.4(TGFB3):c.755-38T>C	noncoding	Benign
14	75965331	T	C	T75965331C	TGFB3	NM_003239.4(TGFB3):c.754+257A>G	noncoding	Benign
14	75965586	A	G	A75965586G	TGFB3	NM_003239.4(TGFB3):c.754+2T>C	noncoding	Pathogenic
14	75965598	G	T	G75965598T	TGFB3	NM_003239.4(TGFB3):c.744C>A:p.Ile248=	coding	Benign/Likely_benign
14	75971420	A	G	A75971420G	TGFB3	NM_003239.4(TGFB3):c.516+135T>C	noncoding	Benign
14	75971684	G	A	G75971684A	TGFB3	NM_003239.4(TGFB3):c.387C>T:p.Ser129=	coding	Benign/Likely_benign
14	75980606	G	A	G75980606A	TGFB3	NM_003239.4(TGFB3):c.288C>T:p.Thr96=	coding	Benign
14	75980785	T	A	T75980785A	TGFB3	NM_003239.5(TGFB3):c.109A>T:p.Lys37Ter	coding	Pathogenic
14	75980788	T	A	T75980788A	TGFB3	NM_003239.4(TGFB3):c.106A>T:p.Lys36Ter	coding	Pathogenic
14	75980798	G	A	G75980798A	TGFB3	NM_003239.4(TGFB3):c.96C>T:p.Phe32=	coding	Benign/Likely_benign
14	75980806	A	G	A75980806G	TGFB3	NM_003239.4(TGFB3):c.88T>C:p.Leu30=	coding	Benign/Likely_benign
14	75980855	G	A	G75980855A	TGFB3	NM_003239.4(TGFB3):c.39C>T:p.Ala13=	coding	Benign/Likely_benign
14	75980860	G	A	G75980860A	TGFB3	NM_003239.4(TGFB3):c.34C>T:p.Leu12=	coding	Benign/Likely_benign
14	75981507	G	A	G75981507A	TGFB3;IFT43	NM_003239.4(TGFB3):c.-614C>T	noncoding	Benign/Likely_benign
14	75985787	A	G	A75985787G	IFT43	NM_052873.3(IFT43):c.1A>G:p.Met1Val	coding	Pathogenic
14	75985788	T	A	T75985788A	IFT43	NM_052873.3(IFT43):c.2T>A:p.Met1Lys	coding	Pathogenic
14	75985811	G	T	G75985811T	IFT43	NM_001102564.3(IFT43):c.25G>T:p.Glu9Ter	coding	Pathogenic
14	76083268	G	A	G76083268A	IFT43	NM_052873.3(IFT43):c.501G>A:p.Ala167=	coding	Benign
14	76439369	A	G	A76439369G	ESRRB	NM_004452.3(ESRRB):c.16A>G:p.Arg6Gly	coding	Benign
14	76439434	C	A	C76439434A	ESRRB	NM_004452.3(ESRRB):c.81C>A:p.Ile27=	coding	Benign
14	76439494	G	C	G76439494C	ESRRB	NM_004452.3(ESRRB):c.141G>C:p.Leu47=	coding	Benign/Likely_benign
14	76439682	C	T	C76439682T	ESRRB	NM_004452.3(ESRRB):c.329C>T:p.Ala110Val	coding	Pathogenic
14	76439806	T	C	T76439806C	ESRRB	NM_004452.3(ESRRB):c.397+56T>C	noncoding	Benign
14	76439850	T	C	T76439850C	ESRRB	NM_004452.3(ESRRB):c.397+100T>C	noncoding	Benign
14	76462682	G	A	G76462682A	ESRRB	NM_004452.3(ESRRB):c.514+21G>A	noncoding	Benign
14	76482046	G	A	G76482046A	ESRRB	NM_004452.3(ESRRB):c.545G>A:p.Arg182His	coding	Pathogenic
14	76482759	G	A	G76482759A	ESRRB	NM_004452.3(ESRRB):c.787G>A:p.Gly263Ser	coding	Pathogenic
14	76491472	C	T	C76491472T	ESRRB	NM_004452.3(ESRRB):c.813C>T:p.Asp271=	coding	Benign/Likely_benign
14	76491544	T	C	T76491544C	ESRRB	NM_004452.3(ESRRB):c.885T>C:p.Tyr295=	coding	Benign
14	76491683	G	T	G76491683T	ESRRB	NM_004452.3(ESRRB):c.1024G>T:p.Val342Leu	coding	Pathogenic
14	76498312	C	T	C76498312T	ESRRB	NM_004452.3(ESRRB):c.1156C>T:p.Pro386Ser	coding	Benign/Likely_benign
14	76498393	G	A	G76498393A	ESRRB	NM_004452.3(ESRRB):c.1237G>A:p.Val413Ile	coding	Benign/Likely_benign
14	76500962	T	C	T76500962C	ESRRB	NM_004452.3(ESRRB):c.*241T>C	noncoding	Benign
14	76501032	C	A	C76501032A	ESRRB	NM_004452.3(ESRRB):c.*311C>A	noncoding	Benign
14	76501364	T	C	T76501364C	ESRRB	NM_004452.3(ESRRB):c.*643T>C	noncoding	Benign
14	76776081	G	A	G76776081A	VASH1	NM_014909.5(VASH1):c.720G>A:p.Val240=	coding	Benign
14	76853350	T	C	T76853350C	LRRC74A	NM_194287.3(LRRC74A):c.948T>C:p.Asn316=	coding	Benign
14	76865958	C	T	C76865958T	LRRC74A	NM_194287.3(LRRC74A):c.1252-10C>T	noncoding	Benign
14	76870118	G	T	G76870118T	LRRC74A	NM_194287.3(LRRC74A):c.1443-7G>T	noncoding	Benign
14	77026539	C	G	C77026539G	IRF2BPL	NM_024496.4(IRF2BPL):c.1254G>C:p.Lys418Asn	coding	Pathogenic
14	77026678	G	C	G77026678C	IRF2BPL	NM_024496.4(IRF2BPL):c.1115C>G:p.Pro372Arg	coding	Pathogenic
14	77027231	G	A	G77027231A	IRF2BPL	NM_024496.4(IRF2BPL):c.562C>T:p.Arg188Ter	coding	Pathogenic/Likely_pathogenic
14	77027294	G	A	G77027294A	IRF2BPL	NM_024496.4(IRF2BPL):c.499C>T:p.Gln167Ter	coding	Pathogenic
14	77027414	G	A	G77027414A	IRF2BPL	NM_024496.4(IRF2BPL):c.379C>T:p.Gln127Ter	coding	Pathogenic
14	77027417	G	A	G77027417A	IRF2BPL	NM_024496.4(IRF2BPL):c.376C>T:p.Gln126Ter	coding	Pathogenic
14	77027435	G	A	G77027435A	IRF2BPL	NM_024496.4(IRF2BPL):c.358C>T:p.Gln120Ter	coding	Pathogenic
14	77275051	T	C	T77275051C	POMT2	NM_013382.5(POMT2):c.*2325A>G	noncoding	Benign
14	77275402	C	T	C77275402T	POMT2	NM_013382.5(POMT2):c.*1974G>A	noncoding	Benign
14	77275409	G	A	G77275409A	POMT2	NM_013382.5(POMT2):c.*1967C>T	noncoding	Benign
14	77275628	G	T	G77275628T	POMT2	NM_013382.5(POMT2):c.*1748C>A	noncoding	Benign
14	77275634	C	T	C77275634T	POMT2	NM_013382.5(POMT2):c.*1742G>A	noncoding	Benign
14	77275860	T	C	T77275860C	POMT2	NM_013382.5(POMT2):c.*1516A>G	noncoding	Benign
14	77275875	C	T	C77275875T	POMT2	NM_013382.5(POMT2):c.*1501G>A	noncoding	Benign
14	77276239	C	T	C77276239T	POMT2	NM_013382.5(POMT2):c.*1137G>A	noncoding	Benign
14	77276289	G	A	G77276289A	POMT2	NM_013382.5(POMT2):c.*1087C>T	noncoding	Benign
14	77276318	C	T	C77276318T	POMT2	NM_013382.5(POMT2):c.*1058G>A	noncoding	Benign
14	77276586	C	T	C77276586T	POMT2	NM_013382.5(POMT2):c.*790G>A	noncoding	Benign
14	77276789	C	T	C77276789T	POMT2	NM_013382.5(POMT2):c.*587G>A	noncoding	Benign
14	77277301	G	A	G77277301A	POMT2	NM_013382.5(POMT2):c.*75C>T	noncoding	Benign
14	77277386	C	G	C77277386G	POMT2	NM_013382.5(POMT2):c.2243G>C:p.Trp748Ser	coding	Pathogenic
14	77277452	C	T	C77277452T	POMT2	NM_013382.5(POMT2):c.2177G>A:p.Gly726Glu	coding	Pathogenic
14	77277454	G	A	G77277454A	POMT2	NM_013382.5(POMT2):c.2175C>T:p.Tyr725=	coding	Benign
14	77277499	T	C	T77277499C	POMT2	NM_013382.5(POMT2):c.2148-18A>G	noncoding	Benign
14	77278764	T	C	T77278764C	POMT2	NM_013382.5(POMT2):c.1997A>G:p.Tyr666Cys	coding	Pathogenic/Likely_pathogenic
14	77278820	C	T	C77278820T	POMT2	NM_013382.5(POMT2):c.1941G>A:p.Trp647Ter	coding	Pathogenic
14	77278849	G	A	G77278849A	POMT2	NM_013382.5(POMT2):c.1912C>T:p.Arg638Ter	coding	Pathogenic
14	77278850	A	C	A77278850C	POMT2	NM_013382.7(POMT2):c.1911T>G:p.Leu637=	coding	Benign
14	77279033	G	A	G77279033A	POMT2	NM_013382.5(POMT2):c.1892-164C>T	noncoding	Benign
14	77279769	T	C	T77279769C	POMT2	NM_013382.5(POMT2):c.1891+54A>G	noncoding	Benign
14	77279774	G	A	G77279774A	POMT2	NM_013382.5(POMT2):c.1891+49C>T	noncoding	Benign/Likely_benign
14	77279967	G	A	G77279967A	POMT2	NM_013382.5(POMT2):c.1786-39C>T	noncoding	Benign/Likely_benign
14	77280044	G	A	G77280044A	POMT2	NM_013382.5(POMT2):c.1762C>T:p.Arg588Ter	coding	Pathogenic
14	77280082	T	C	T77280082C	POMT2	NM_013382.5(POMT2):c.1726-2A>G	noncoding	Pathogenic
14	77280469	T	C	T77280469C	POMT2	NM_013382.7(POMT2):c.1654-6A>G	noncoding	Benign/Likely_benign
14	77280504	C	G	C77280504G	POMT2	NM_013382.5(POMT2):c.1654-41G>C	noncoding	Benign
14	77280680	T	C	T77280680C	POMT2	NM_013382.5(POMT2):c.1654-217A>G	noncoding	Benign
14	77283531	G	A	G77283531A	POMT2	NM_013382.5(POMT2):c.1653+266C>T	noncoding	Benign
14	77283714	T	G	T77283714G	POMT2	NM_013382.5(POMT2):c.1653+83A>C	noncoding	Benign
14	77283857	C	T	C77283857T	POMT2	NM_013382.5(POMT2):c.1593G>A:p.Leu531=	coding	Benign/Likely_benign
14	77284895	G	A	G77284895A	POMT2	NM_013382.5(POMT2):c.1576+55C>T	noncoding	Benign
14	77285345	A	G	A77285345G	POMT2	NM_013382.5(POMT2):c.1484+136T>C	noncoding	Benign
14	77285386	T	C	T77285386C	POMT2	NM_013382.5(POMT2):c.1484+95A>G	noncoding	Benign
14	77285480	C	A	C77285480A	POMT2	NM_013382.5(POMT2):c.1484+1G>T	noncoding	Pathogenic
14	77285520	C	A	C77285520A	POMT2	NM_013382.5(POMT2):c.1445G>T:p.Gly482Val	coding	Pathogenic
14	77285548	G	A	G77285548A	POMT2	NM_013382.5(POMT2):c.1417C>T:p.Arg473Ter	coding	Pathogenic
14	77285582	C	T	C77285582T	POMT2	NM_013382.7(POMT2):c.1383G>A:p.Arg461=	coding	Benign
14	77286764	G	A	G77286764A	POMT2	NM_013382.7(POMT2):c.1312C>T:p.Gln438Ter	coding	Pathogenic
14	77286814	C	T	C77286814T	POMT2	NM_013382.5(POMT2):c.1262G>A:p.Arg421Gln	coding	Benign/Likely_benign
14	77288878	T	G	T77288878G	POMT2	NM_013382.5(POMT2):c.1184-47A>C	noncoding	Benign
14	77291300	T	C	T77291300C	POMT2	NM_013382.5(POMT2):c.1183+14A>G	noncoding	Benign
14	77291380	C	A	C77291380A	POMT2	NM_013382.5(POMT2):c.1117G>T:p.Val373Phe	coding	Pathogenic
14	77291400	G	A	G77291400A	POMT2	NM_013382.5(POMT2):c.1117-20C>T	noncoding	Benign
14	77295921	A	C	A77295921C	POMT2	NM_013382.5(POMT2):c.1116+243T>G	noncoding	Benign
14	77295999	G	A	G77295999A	POMT2	NM_013382.5(POMT2):c.1116+165C>T	noncoding	Benign
14	77296129	T	C	T77296129C	POMT2	NM_013382.5(POMT2):c.1116+35A>G	noncoding	Benign
14	77296223	C	T	C77296223T	POMT2	NM_013382.5(POMT2):c.1057G>A:p.Gly353Ser	coding	Pathogenic
14	77296305	C	T	C77296305T	POMT2	NM_013382.5(POMT2):c.1007-32G>A	noncoding	Benign/Likely_benign
14	77296529	C	T	C77296529T	POMT2	NM_013382.5(POMT2):c.1007-256G>A	noncoding	Benign
14	77296555	A	G	A77296555G	POMT2	NM_013382.5(POMT2):c.1007-282T>C	noncoding	Benign
14	77296619	C	T	C77296619T	POMT2	NM_013382.5(POMT2):c.1007-346G>A	noncoding	Benign
14	77298428	G	A	G77298428A	POMT2	NM_013382.5(POMT2):c.1006+261C>T	noncoding	Benign
14	77298477	T	C	T77298477C	POMT2	NM_013382.5(POMT2):c.1006+212A>G	noncoding	Benign
14	77298688	C	T	C77298688T	POMT2	NM_013382.5(POMT2):c.1006+1G>A	noncoding	Pathogenic
14	77298737	G	A	G77298737A	POMT2	NM_013382.5(POMT2):c.958C>T:p.Gln320Ter	coding	Pathogenic
14	77298773	T	C	T77298773C	POMT2	NM_013382.5(POMT2):c.924-2A>G	noncoding	Pathogenic
14	77298773	T	G	T77298773G	POMT2	NM_013382.5(POMT2):c.924-2A>C	noncoding	Pathogenic
14	77298781	G	A	G77298781A	POMT2	NM_013382.5(POMT2):c.924-10C>T	noncoding	Benign/Likely_benign
14	77299682	G	A	G77299682A	POMT2	NM_013382.5(POMT2):c.817-121C>T	noncoding	Benign
14	77299684	A	G	A77299684G	POMT2	NM_013382.5(POMT2):c.817-123T>C	noncoding	Benign
14	77301039	A	G	A77301039G	POMT2	NM_013382.5(POMT2):c.816+51T>C	noncoding	Benign
14	77301169	C	T	C77301169T	POMT2	NM_013382.5(POMT2):c.737G>A:p.Gly246Asp	coding	Pathogenic
14	77302839	C	T	C77302839T	POMT2	NM_013382.5(POMT2):c.652G>A:p.Asp218Asn	coding	Benign/Likely_benign
14	77302843	G	T	G77302843T	POMT2	NM_013382.5(POMT2):c.648C>A:p.Cys216Ter	coding	Pathogenic
14	77302852	G	T	G77302852T	POMT2	NM_013382.5(POMT2):c.639C>A:p.Tyr213Ter	coding	Pathogenic
14	77304491	A	G	A77304491G	POMT2	NM_013382.5(POMT2):c.547+201T>C	noncoding	Benign
14	77304777	C	T	C77304777T	POMT2	NM_013382.5(POMT2):c.462G>A:p.Trp154Ter	coding	Pathogenic
14	77306256	G	A	G77306256A	POMT2	NM_013382.5(POMT2):c.438+81C>T	noncoding	Benign
14	77306486	A	G	A77306486G	POMT2	NM_013382.5(POMT2):c.334-45T>C	noncoding	Benign
14	77312142	T	C	T77312142C	POMT2	NM_013382.5(POMT2):c.249-109A>G	noncoding	Benign
14	77320326	G	T	G77320326T	POMT2	NM_013382.5(POMT2):c.248+108C>A	noncoding	Benign
14	77320429	C	G	C77320429G	POMT2	NM_013382.5(POMT2):c.248+5G>C	noncoding	Pathogenic
14	77320432	A	G	A77320432G	POMT2	NM_013382.5(POMT2):c.248+2T>C	noncoding	Pathogenic
14	77320433	C	G	C77320433G	POMT2	NM_013382.5(POMT2):c.248+1G>C	noncoding	Pathogenic
14	77320445	C	T	C77320445T	POMT2	NM_013382.5(POMT2):c.237G>A:p.Pro79=	coding	Benign
14	77320520	C	A	C77320520A	POMT2	NM_013382.7(POMT2):c.162G>T:p.Ala54=	coding	Benign
14	77320521	G	T	G77320521T	POMT2	NM_013382.5(POMT2):c.161C>A:p.Ala54Glu	coding	Benign
14	77320805	C	T	C77320805T	POMT2	NM_013382.5(POMT2):c.-124G>A	noncoding	Benign
14	77320809	G	A	G77320809A	POMT2	NM_013382.5(POMT2):c.-128C>T	noncoding	Benign
14	77327470	A	G	A77327470G	GSTZ1	NM_145870.3(GSTZ1):c.136-2A>G	noncoding	Pathogenic
14	77428381	G	A	G77428381A	VIPAS39	NM_022067.4(VIPAS39):c.1450C>T:p.Leu484Phe	coding	Benign
14	77429705	C	T	C77429705T	VIPAS39	NM_022067.4(VIPAS39):c.1242G>A:p.Leu414=	coding	Benign
14	77429763	C	T	C77429763T	VIPAS39	NM_022067.4(VIPAS39):c.1184G>A:p.Trp395Ter	coding	Pathogenic
14	77433822	C	T	C77433822T	VIPAS39	NM_022067.4(VIPAS39):c.1179+20G>A	noncoding	Benign
14	77433829	G	C	G77433829C	VIPAS39	NM_022067.4(VIPAS39):c.1179+13C>G	noncoding	Benign
14	77433841	C	T	C77433841T	VIPAS39	NM_022067.4(VIPAS39):c.1179+1G>A	noncoding	Pathogenic
14	77434286	G	A	G77434286A	VIPAS39	NM_022067.4(VIPAS39):c.1065C>T:p.Pro355=	coding	Benign
14	77435292	G	A	G77435292A	VIPAS39	NM_022067.4(VIPAS39):c.1014C>T:p.Phe338=	coding	Benign
14	77435885	G	A	G77435885A	VIPAS39	NM_022067.4(VIPAS39):c.871C>T:p.Gln291Ter	coding	Pathogenic
14	77435895	G	A	G77435895A	VIPAS39	NM_022067.4(VIPAS39):c.861C>T:p.Ser287=	coding	Benign
14	77437793	T	C	T77437793C	VIPAS39	NM_022067.4(VIPAS39):c.836+15A>G	noncoding	Benign
14	77441138	T	C	T77441138C	VIPAS39	NM_022067.4(VIPAS39):c.735-45A>G	noncoding	Benign
14	77442636	G	A	G77442636A	VIPAS39	NM_022067.4(VIPAS39):c.658C>T:p.Arg220Ter	coding	Pathogenic
14	77444311	G	A	G77444311A	VIPAS39	NM_022067.4(VIPAS39):c.535C>T:p.Gln179Ter	coding	Pathogenic
14	77451296	G	A	G77451296A	VIPAS39	NM_022067.4(VIPAS39):c.234C>T:p.Ser78=	coding	Benign
14	77453359	C	T	C77453359T	VIPAS39	NM_022067.4(VIPAS39):c.136G>A:p.Val46Met	coding	Benign/Likely_benign
14	77453447	C	A	C77453447A	VIPAS39	NM_022067.4(VIPAS39):c.94-46G>T	noncoding	Benign
14	77454101	A	C	A77454101C	VIPAS39	NM_022067.4(VIPAS39):c.2T>G:p.Met1Arg	coding	Pathogenic
14	77464691	A	G	A77464691G	AHSA1	NM_012111.3(AHSA1):c.561+5A>G	noncoding	Benign
14	77482498	C	T	C77482498T	ISM2	NM_199296.3(ISM2):c.797G>A:p.Gly266Glu	coding	Benign
14	77484553	G	C	G77484553C	ISM2	NM_199296.3(ISM2):c.397C>G:p.Pro133Ala	coding	Benign
14	77506031	A	G	A77506031G	SPTLC2	NM_004863.3(SPTLC2):c.*6253T>C	noncoding	Benign
14	77506204	G	C	G77506204C	SPTLC2	NM_004863.3(SPTLC2):c.*6080C>G	noncoding	Benign
14	77506392	G	T	G77506392T	SPTLC2	NM_004863.4(SPTLC2):c.*5892C>A	noncoding	Benign
14	77506485	G	A	G77506485A	SPTLC2	NM_004863.4(SPTLC2):c.*5799C>T	noncoding	Benign
14	77506753	T	C	T77506753C	SPTLC2	NM_004863.3(SPTLC2):c.*5531A>G	noncoding	Benign
14	77506889	G	C	G77506889C	SPTLC2	NM_004863.3(SPTLC2):c.*5395C>G	noncoding	Benign
14	77506926	A	G	A77506926G	SPTLC2	NM_004863.3(SPTLC2):c.*5358T>C	noncoding	Benign
14	77507370	G	A	G77507370A	SPTLC2	NM_004863.3(SPTLC2):c.*4914C>T	noncoding	Benign
14	77507442	T	G	T77507442G	SPTLC2	NM_004863.4(SPTLC2):c.*4842A>C	noncoding	Benign
14	77507639	T	C	T77507639C	SPTLC2	NM_004863.3(SPTLC2):c.*4645A>G	noncoding	Benign
14	77507781	T	C	T77507781C	SPTLC2	NM_004863.3(SPTLC2):c.*4503A>G	noncoding	Benign
14	77507806	G	T	G77507806T	SPTLC2	NM_004863.3(SPTLC2):c.*4478C>A	noncoding	Benign
14	77507838	C	A	C77507838A	SPTLC2	NM_004863.3(SPTLC2):c.*4446G>T	noncoding	Benign
14	77507853	C	A	C77507853A	SPTLC2	NM_004863.3(SPTLC2):c.*4431G>T	noncoding	Benign
14	77508153	C	T	C77508153T	SPTLC2	NM_004863.3(SPTLC2):c.*4131G>A	noncoding	Benign
14	77508176	C	T	C77508176T	SPTLC2	NM_004863.4(SPTLC2):c.*4108G>A	noncoding	Benign
14	77508245	A	G	A77508245G	SPTLC2	NM_004863.3(SPTLC2):c.*4039T>C	noncoding	Benign
14	77508247	C	T	C77508247T	SPTLC2	NM_004863.3(SPTLC2):c.*4037G>A	noncoding	Benign
14	77508254	A	C	A77508254C	SPTLC2	NM_004863.4(SPTLC2):c.*4030T>G	noncoding	Benign
14	77508353	C	G	C77508353G	SPTLC2	NM_004863.3(SPTLC2):c.*3931G>C	noncoding	Benign
14	77508472	G	A	G77508472A	SPTLC2	NM_004863.3(SPTLC2):c.*3812C>T	noncoding	Benign
14	77508618	A	C	A77508618C	SPTLC2	NM_004863.4(SPTLC2):c.*3666T>G	noncoding	Benign
14	77508647	C	T	C77508647T	SPTLC2	NM_004863.3(SPTLC2):c.*3637G>A	noncoding	Benign
14	77508672	A	T	A77508672T	SPTLC2	NM_004863.3(SPTLC2):c.*3612T>A	noncoding	Benign
14	77508758	T	A	T77508758A	SPTLC2	NM_004863.3(SPTLC2):c.*3526A>T	noncoding	Benign
14	77508760	T	G	T77508760G	SPTLC2	NM_004863.3(SPTLC2):c.*3524A>C	noncoding	Benign
14	77509010	G	A	G77509010A	SPTLC2	NM_004863.3(SPTLC2):c.*3274C>T	noncoding	Benign
14	77509060	G	A	G77509060A	SPTLC2	NM_004863.3(SPTLC2):c.*3224C>T	noncoding	Benign
14	77509250	G	C	G77509250C	SPTLC2	NM_004863.3(SPTLC2):c.*3034C>G	noncoding	Benign
14	77509318	C	T	C77509318T	SPTLC2	NM_004863.3(SPTLC2):c.*2966G>A	noncoding	Benign
14	77509322	G	A	G77509322A	SPTLC2	NM_004863.4(SPTLC2):c.*2962C>T	noncoding	Benign
14	77509535	T	G	T77509535G	SPTLC2	NM_004863.3(SPTLC2):c.*2749A>C	noncoding	Benign
14	77509582	C	T	C77509582T	SPTLC2	NM_004863.3(SPTLC2):c.*2702G>A	noncoding	Benign
14	77509585	G	T	G77509585T	SPTLC2	NM_004863.3(SPTLC2):c.*2699C>A	noncoding	Benign
14	77509639	G	A	G77509639A	SPTLC2	NM_004863.3(SPTLC2):c.*2645C>T	noncoding	Benign
14	77509909	G	A	G77509909A	SPTLC2	NM_004863.4(SPTLC2):c.*2375C>T	noncoding	Benign
14	77509946	C	T	C77509946T	SPTLC2	NM_004863.3(SPTLC2):c.*2338G>A	noncoding	Benign
14	77509982	T	C	T77509982C	SPTLC2	NM_004863.3(SPTLC2):c.*2302A>G	noncoding	Benign
14	77510098	T	C	T77510098C	SPTLC2	NM_004863.3(SPTLC2):c.*2186A>G	noncoding	Benign
14	77510107	T	G	T77510107G	SPTLC2	NM_004863.3(SPTLC2):c.*2177A>C	noncoding	Benign
14	77510125	T	C	T77510125C	SPTLC2	NM_004863.3(SPTLC2):c.*2159A>G	noncoding	Benign
14	77510844	C	A	C77510844A	SPTLC2	NM_004863.3(SPTLC2):c.*1440G>T	noncoding	Benign
14	77511063	T	C	T77511063C	SPTLC2	NM_004863.3(SPTLC2):c.*1221A>G	noncoding	Benign
14	77511150	A	G	A77511150G	SPTLC2	NM_004863.3(SPTLC2):c.*1134T>C	noncoding	Benign
14	77511270	G	A	G77511270A	SPTLC2	NM_004863.3(SPTLC2):c.*1014C>T	noncoding	Benign
14	77511557	G	A	G77511557A	SPTLC2	NM_004863.3(SPTLC2):c.*727C>T	noncoding	Benign
14	77511761	G	A	G77511761A	SPTLC2	NM_004863.3(SPTLC2):c.*523C>T	noncoding	Benign
14	77511771	G	A	G77511771A	SPTLC2	NM_004863.4(SPTLC2):c.*513C>T	noncoding	Benign
14	77511887	C	A	C77511887A	SPTLC2	NM_004863.3(SPTLC2):c.*397G>T	noncoding	Benign
14	77511996	G	A	G77511996A	SPTLC2	NM_004863.3(SPTLC2):c.*288C>T	noncoding	Benign
14	77512278	A	C	A77512278C	SPTLC2	NM_004863.3(SPTLC2):c.*6T>G	noncoding	Benign
14	77512309	G	A	G77512309A	SPTLC2	NM_004863.3(SPTLC2):c.1664C>T:p.Thr555Met	coding	Benign/Likely_benign
14	77512359	C	T	C77512359T	SPTLC2	NM_004863.3(SPTLC2):c.1614G>A:p.Lys538=	coding	Benign/Likely_benign
14	77512370	A	G	A77512370G	SPTLC2	NM_004863.3(SPTLC2):c.1603T>C:p.Leu535=	coding	Benign/Likely_benign
14	77518030	C	A	C77518030A	SPTLC2	NM_004863.3(SPTLC2):c.1569+8G>T	noncoding	Benign
14	77518097	T	A	T77518097A	SPTLC2	NM_004863.3(SPTLC2):c.1510A>T:p.Ile504Phe	coding	Pathogenic
14	77518158	T	A	T77518158A	SPTLC2	NM_004863.3(SPTLC2):c.1449A>T:p.Gly483=	coding	Benign/Likely_benign
14	77518230	C	T	C77518230T	SPTLC2	NM_004863.3(SPTLC2):c.1440-63G>A	noncoding	Benign
14	77521457	A	C	A77521457C	SPTLC2	NM_004863.3(SPTLC2):c.1428T>G:p.Pro476=	coding	Benign
14	77521615	C	A	C77521615A	SPTLC2	NM_004863.3(SPTLC2):c.1304-34G>T	noncoding	Benign
14	77551863	G	C	G77551863C	SPTLC2	NM_004863.3(SPTLC2):c.1303+233C>G	noncoding	Benign
14	77551903	T	C	T77551903C	SPTLC2	NM_004863.3(SPTLC2):c.1303+193A>G	noncoding	Benign
14	77552152	A	G	A77552152G	SPTLC2	NM_004863.3(SPTLC2):c.1247T>C:p.Val416Ala	coding	Benign
14	77552160	A	G	A77552160G	SPTLC2	NM_004863.3(SPTLC2):c.1239T>C:p.Pro413=	coding	Benign/Likely_benign
14	77552172	C	T	C77552172T	SPTLC2	NM_004863.3(SPTLC2):c.1227G>A:p.Thr409=	coding	Benign
14	77552271	C	T	C77552271T	SPTLC2	NM_004863.3(SPTLC2):c.1177-49G>A	noncoding	Benign
14	77555293	C	T	C77555293T	SPTLC2	NM_004863.3(SPTLC2):c.1176+7G>A	noncoding	Benign
14	77555325	G	A	G77555325A	SPTLC2	NM_004863.3(SPTLC2):c.1151C>T:p.Ser384Phe	coding	Pathogenic
14	77555331	C	A	C77555331A	SPTLC2	NM_004863.3(SPTLC2):c.1145G>T:p.Gly382Val	coding	Pathogenic/Likely_pathogenic
14	77555348	C	T	C77555348T	SPTLC2	NM_004863.3(SPTLC2):c.1128G>A:p.Thr376=	coding	Benign
14	77555401	C	T	C77555401T	SPTLC2	NM_004863.3(SPTLC2):c.1075G>A:p.Val359Met	coding	Pathogenic
14	77555426	G	A	G77555426A	SPTLC2	NM_004863.3(SPTLC2):c.1050C>T:p.Gly350=	coding	Benign/Likely_benign
14	77557176	C	G	C77557176G	SPTLC2	NM_004863.3(SPTLC2):c.851-30G>C	noncoding	Benign
14	77557371	A	G	A77557371G	SPTLC2	NM_004863.3(SPTLC2):c.851-225T>C	noncoding	Benign
14	77557439	C	T	C77557439T	SPTLC2	NM_004863.3(SPTLC2):c.851-293G>A	noncoding	Benign
14	77562460	A	G	A77562460G	SPTLC2	NM_004863.3(SPTLC2):c.786T>C:p.Asn262=	coding	Benign
14	77562483	G	A	G77562483A	SPTLC2	NM_004863.3(SPTLC2):c.763C>T:p.Leu255=	coding	Benign/Likely_benign
14	77562485	C	G	C77562485G	SPTLC2	NM_004863.3(SPTLC2):c.761G>C:p.Cys254Ser	coding	Benign
14	77562739	C	T	C77562739T	SPTLC2	NM_004863.3(SPTLC2):c.757-250G>A	noncoding	Benign
14	77570374	A	G	A77570374G	SPTLC2	NM_004863.3(SPTLC2):c.756+10T>C	noncoding	Benign
14	77570417	C	A	C77570417A	SPTLC2	NM_004863.3(SPTLC2):c.723G>T:p.Thr241=	coding	Benign
14	77570417	C	T	C77570417T	SPTLC2	NM_004863.3(SPTLC2):c.723G>A:p.Thr241=	coding	Benign/Likely_benign
14	77570592	A	G	A77570592G	SPTLC2	NM_004863.3(SPTLC2):c.632-84T>C	noncoding	Benign
14	77576786	G	A	G77576786A	SPTLC2	NM_004863.3(SPTLC2):c.612C>T:p.Cys204=	coding	Benign/Likely_benign
14	77576837	T	C	T77576837C	SPTLC2	NM_004863.3(SPTLC2):c.561A>G:p.Ser187=	coding	Benign/Likely_benign
14	77576851	G	A	G77576851A	SPTLC2	NM_004863.3(SPTLC2):c.547C>T:p.Arg183Trp	coding	Pathogenic
14	77576854	C	G	C77576854G	SPTLC2	NM_004863.3(SPTLC2):c.544G>C:p.Ala182Pro	coding	Pathogenic
14	77576892	C	G	C77576892G	SPTLC2	NM_004863.3(SPTLC2):c.506G>C:p.Gly169Ala	coding	Benign
14	77578732	A	T	A77578732T	SPTLC2	NM_004863.3(SPTLC2):c.482+223T>A	noncoding	Benign
14	77579030	C	T	C77579030T	SPTLC2	NM_004863.3(SPTLC2):c.407G>A:p.Arg136Gln	coding	Benign
14	77597339	C	T	C77597339T	SPTLC2	NM_004863.3(SPTLC2):c.174G>A:p.Pro58=	coding	Benign/Likely_benign
14	77597351	T	G	T77597351G	SPTLC2	NM_004863.3(SPTLC2):c.162A>C:p.Leu54=	coding	Benign
14	77616609	C	A	C77616609A	SPTLC2	NM_004863.3(SPTLC2):c.-30G>T	noncoding	Benign
14	77616621	T	C	T77616621C	SPTLC2	NM_004863.3(SPTLC2):c.-42A>G	noncoding	Benign
14	77616622	G	A	G77616622A	SPTLC2	NM_004863.3(SPTLC2):c.-43C>T	noncoding	Benign
14	77616760	G	C	G77616760C	SPTLC2	NM_004863.3(SPTLC2):c.-181C>G	noncoding	Benign
14	77616766	G	A	G77616766A	SPTLC2	NM_004863.3(SPTLC2):c.-187C>T	noncoding	Benign
14	77617006	C	T	C77617006T	SPTLC2	NM_004863.3(SPTLC2):c.-427G>A	noncoding	Benign
14	78243471	T	C	T78243471C	NRXN3	NM_001330195.2(NRXN3):c.378T>C:p.Asp126=	noncoding	Benign
14	78243701	G	A	G78243701A	NRXN3	NM_001330195.2(NRXN3):c.608G>A:p.Gly203Asp	noncoding	Benign
14	78651233	C	A	C78651233A	NRXN3	NM_001330195.2(NRXN3):c.1128C>A:p.Gly376=	coding	Benign
14	78651308	C	T	C78651308T	NRXN3	NM_001330195.2(NRXN3):c.1203C>T:p.Phe401=	coding	Benign
14	78709310	A	G	A78709310G	NRXN3	NM_001330195.2(NRXN3):c.1315A>G:p.Lys439Glu	coding	Pathogenic
14	78803696	G	A	G78803696A	NRXN3	NM_001330195.2(NRXN3):c.2121G>A:p.Glu707=	coding	Benign
14	78803768	C	T	C78803768T	NRXN3	NM_001330195.2(NRXN3):c.2193C>T:p.Ala731=	coding	Benign
14	78968349	A	G	A78968349G	NRXN3	NM_001330195.2(NRXN3):c.3142+3A>G	noncoding	Pathogenic
14	79697868	T	C	T79697868C	NRXN3	NM_001330195.2(NRXN3):c.3945T>C:p.Thr1315=	coding	Benign
14	80203244	G	C	G80203244C	DIO2	NM_013989.5(DIO2):c.267C>G:p.Val89=	coding	Benign
14	80497551	T	G	T80497551G	CEP128	NM_152446.5(CEP128):c.3213A>C:p.Ser1071=	coding	Benign
14	80836311	C	T	C80836311T	CEP128	NM_152446.5(CEP128):c.951G>A:p.Thr317=	coding	Benign
14	80955786	G	C	G80955786C	TSHR	NM_000369.5(TSHR):c.106G>C:p.Asp36His	coding	Benign/Likely_benign
14	80955802	G	C	G80955802C	TSHR	NM_000369.5(TSHR):c.122G>C:p.Cys41Ser	coding	Pathogenic
14	80955834	C	A	C80955834A	TSHR	NM_000369.5(TSHR):c.154C>A:p.Pro52Thr	coding	Benign
14	81087962	G	A	G81087962A	TSHR	NM_000369.5(TSHR):c.326G>A:p.Arg109Gln	coding	Pathogenic
14	81092547	C	G	C81092547G	TSHR	NM_000369.5(TSHR):c.484C>G:p.Pro162Ala	coding	Pathogenic
14	81092563	T	A	T81092563A	TSHR	NM_000369.5(TSHR):c.500T>A:p.Ile167Asn	coding	Pathogenic
14	81092611	G	C	G81092611C	TSHR	NM_000369.5(TSHR):c.545+3G>C	noncoding	Pathogenic
14	81092613	G	T	G81092613T	TSHR	NM_000369.5(TSHR):c.545+5G>T	noncoding	Pathogenic
14	81092621	A	G	A81092621G	TSHR	NM_000369.5(TSHR):c.545+13A>G	noncoding	Benign
14	81096641	A	G	A81096641G	TSHR	NM_000369.5(TSHR):c.548A>G:p.Lys183Arg	coding	Pathogenic
14	81096654	T	C	T81096654C	TSHR	NM_000369.5(TSHR):c.561T>C:p.Asn187=	coding	Benign
14	81139828	G	A	G81139828A	TSHR	NM_000369.5(TSHR):c.842G>A:p.Ser281Asn	coding	Pathogenic
14	81139828	G	T	G81139828T	TSHR	NM_000369.5(TSHR):c.842G>T:p.Ser281Ile	coding	Pathogenic
14	81142986	C	T	C81142986T	TSHR	NM_000369.5(TSHR):c.928C>T:p.Arg310Cys	coding	Pathogenic
14	81143028	C	T	C81143028T	TSHR	NM_000369.5(TSHR):c.970C>T:p.Gln324Ter	coding	Pathogenic
14	81143228	T	G	T81143228G	TSHR	NM_000369.5(TSHR):c.1170T>G:p.Cys390Trp	coding	Pathogenic
14	81143286	G	A	G81143286A	TSHR	NM_000369.5(TSHR):c.1228G>A:p.Asp410Asn	coding	Pathogenic
14	81143349	G	A	G81143349A	TSHR	NM_000369.5(TSHR):c.1291G>A:p.Gly431Ser	coding	Pathogenic
14	81143416	T	C	T81143416C	TSHR	NM_000369.5(TSHR):c.1358T>C:p.Met453Thr	coding	Pathogenic
14	81143435	G	A	G81143435A	TSHR	NM_000369.5(TSHR):c.1377G>A:p.Ala459=	coding	Benign/Likely_benign
14	81143458	T	C	T81143458C	TSHR	NM_000369.5(TSHR):c.1400T>C:p.Leu467Pro	coding	Pathogenic
14	81143487	A	C	A81143487C	TSHR	NM_000369.4(TSHR):c.1429A>C:p.Thr477Pro	coding	Benign
14	81143488	C	T	C81143488T	TSHR	NM_000369.5(TSHR):c.1430C>T:p.Thr477Ile	coding	Pathogenic
14	81143572	G	A	G81143572A	TSHR	NM_000369.5(TSHR):c.1514G>A:p.Ser505Asn	coding	Pathogenic
14	81143584	T	C	T81143584C	TSHR	NM_000369.5(TSHR):c.1526T>C:p.Val509Ala	coding	Pathogenic
14	81143630	C	G	C81143630G	TSHR	NM_000369.4(TSHR):c.1572C>G:p.Thr524=	coding	Benign
14	81143633	C	A	C81143633A	TSHR	NM_000369.5(TSHR):c.1575C>A:p.Phe525Leu	coding	Pathogenic
14	81143856	T	C	T81143856C	TSHR	NM_000369.5(TSHR):c.1798T>C:p.Cys600Arg	coding	Pathogenic
14	81143914	A	G	A81143914G	TSHR	NM_000369.5(TSHR):c.1856A>G:p.Asp619Gly	coding	Pathogenic
14	81143945	G	T	G81143945T	TSHR	NM_000369.5(TSHR):c.1887G>T:p.Leu629Phe	coding	Pathogenic
14	81143949	T	C	T81143949C	TSHR	NM_000369.5(TSHR):c.1891T>C:p.Phe631Leu	coding	Pathogenic
14	81143955	G	C	G81143955C	TSHR	NM_000369.5(TSHR):c.1897G>C:p.Asp633His	coding	Pathogenic
14	81143973	C	T	C81143973T	TSHR	NM_000369.5(TSHR):c.1915C>T:p.Pro639Ser	coding	Pathogenic
14	81143993	G	A	G81143993A	TSHR	NM_000369.4(TSHR):c.1935G>A:p.Leu645=	coding	Benign
14	81144065	T	C	T81144065C	TSHR	NM_000369.4(TSHR):c.2007T>C:p.Leu669=	coding	Benign
14	81144073	G	A	G81144073A	TSHR	NM_000369.5(TSHR):c.2015G>A:p.Cys672Tyr	coding	Pathogenic
14	81144182	G	T	G81144182T	TSHR	NM_000369.4(TSHR):c.2124G>T:p.Gly708=	coding	Benign
14	81144239	G	C	G81144239C	TSHR	NM_000369.5(TSHR):c.2181G>C:p.Glu727Asp	coding	Benign/Likely_benign
14	81144290	C	G	C81144290G	TSHR	NM_000369.5(TSHR):c.2232C>G:p.Asn744Lys	coding	Benign/Likely_benign
14	81144371	C	A	C81144371A	TSHR	NM_000369.5(TSHR):c.*18C>A	noncoding	Benign/Likely_benign
14	81144525	C	A	C81144525A	TSHR	NM_000369.5(TSHR):c.*172C>A	noncoding	Benign
14	81144598	C	T	C81144598T	TSHR	NM_000369.5(TSHR):c.*245C>T	noncoding	Benign
14	81144784	T	C	T81144784C	TSHR	NM_000369.5(TSHR):c.*431T>C	noncoding	Benign
14	81144827	G	T	G81144827T	TSHR	NM_000369.5(TSHR):c.*474G>T	noncoding	Benign/Likely_benign
14	81145262	C	T	C81145262T	TSHR	NM_000369.5(TSHR):c.*909C>T	noncoding	Benign
14	81145505	T	A	T81145505A	TSHR	NM_000369.5(TSHR):c.*1152T>A	noncoding	Benign
14	81145575	G	C	G81145575C	TSHR	NM_000369.5(TSHR):c.*1222G>C	noncoding	Benign
14	81145642	A	G	A81145642G	TSHR	NM_000369.5(TSHR):c.*1289A>G	noncoding	Benign/Likely_benign
14	81145770	T	C	T81145770C	TSHR	NM_000369.5(TSHR):c.*1417T>C	noncoding	Benign
14	81146166	T	A	T81146166A	TSHR	NM_000369.5(TSHR):c.*1813T>A	noncoding	Benign/Likely_benign
14	81504209	T	C	T81504209C	SEL1L	NM_005065.6(SEL1L):c.606A>G:p.Gln202=	coding	Benign
14	81504243	A	G	A81504243G	SEL1L	NM_005065.6(SEL1L):c.572T>C:p.Met191Thr	coding	Benign
14	81526729	C	T	C81526729T	SEL1L	NM_005065.6(SEL1L):c.340+4G>A	noncoding	Benign
14	85622504	A	G	A85622504G	FLRT2	NM_013231.6(FLRT2):c.990A>G:p.Ser330=	coding	Benign
14	87933144	A	C	A87933144C	GALC	NM_000153.4(GALC):c.*1588T>G	noncoding	Benign
14	87933279	T	C	T87933279C	GALC	NM_000153.4(GALC):c.*1453A>G	noncoding	Benign
14	87933457	C	T	C87933457T	GALC	NM_000153.4(GALC):c.*1275G>A	noncoding	Benign
14	87933606	C	T	C87933606T	GALC	NM_000153.4(GALC):c.*1126G>A	noncoding	Benign
14	87933743	C	T	C87933743T	GALC	NM_000153.4(GALC):c.*989G>A	noncoding	Benign
14	87934009	C	T	C87934009T	GALC	NM_000153.4(GALC):c.*723G>A	noncoding	Benign
14	87934023	T	G	T87934023G	GALC	NM_000153.4(GALC):c.*709A>C	noncoding	Benign
14	87934105	T	C	T87934105C	GALC	NM_000153.4(GALC):c.*627A>G	noncoding	Benign
14	87934106	G	A	G87934106A	GALC	NM_000153.4(GALC):c.*626C>T	noncoding	Benign
14	87934142	A	G	A87934142G	GALC	NM_000153.4(GALC):c.*590T>C	noncoding	Benign
14	87934337	G	A	G87934337A	GALC	NM_000153.4(GALC):c.*395C>T	noncoding	Benign
14	87934788	T	G	T87934788G	GALC	NM_000153.4(GALC):c.2002A>C:p.Thr668Pro	coding	Pathogenic
14	87934869	T	C	T87934869C	GALC	NM_000153.4(GALC):c.1921A>G:p.Thr641Ala	coding	Benign
14	87935048	G	A	G87935048A	GALC	NM_000153.4(GALC):c.1912-170C>T	noncoding	Benign
14	87935098	A	C	A87935098C	GALC	NM_000153.4(GALC):c.1912-220T>G	noncoding	Benign
14	87939776	C	T	C87939776T	GALC	NM_000153.4(GALC):c.1911+129G>A	noncoding	Benign
14	87939783	G	C	G87939783C	GALC	NM_000153.4(GALC):c.1911+122C>G	noncoding	Benign
14	87939926	A	T	A87939926T	GALC	NM_000153.4(GALC):c.1890T>A:p.Tyr630Ter	coding	Pathogenic
14	87941390	G	C	G87941390C	GALC	NM_000153.4(GALC):c.1834+5C>G	noncoding	Benign
14	87941433	A	C	A87941433C	GALC	NM_000153.4(GALC):c.1796T>G:p.Ile599Ser	coding	Pathogenic
14	87941436	C	T	C87941436T	GALC	NM_000153.4(GALC):c.1793G>A:p.Trp598Ter	coding	Pathogenic
14	87941441	G	A	G87941441A	GALC	NM_000153.4(GALC):c.1788C>T:p.Phe596=	coding	Benign
14	87941498	G	A	G87941498A	GALC	NM_000153.4(GALC):c.1731C>T:p.Phe577=	coding	Benign/Likely_benign
14	87941529	T	G	T87941529G	GALC	NM_000153.4(GALC):c.1700A>C:p.Tyr567Ser	coding	Pathogenic/Likely_pathogenic
14	87941531	T	A	T87941531A	GALC	NM_000153.4(GALC):c.1698A>T:p.Val566=	coding	Benign
14	87941573	G	A	G87941573A	GALC	NM_000153.4(GALC):c.1671-15C>T	noncoding	Benign
14	87941877	T	C	T87941877C	GALC	NM_000153.4(GALC):c.1671-319A>G	noncoding	Benign
14	87945349	A	G	A87945349G	GALC	NM_000153.4(GALC):c.1670+204T>C	noncoding	Benign
14	87945459	T	C	T87945459C	GALC	NM_000153.4(GALC):c.1670+94A>G	noncoding	Benign
14	87945558	G	C	G87945558C	GALC	NM_000153.4(GALC):c.1665C>G:p.Tyr555Ter	coding	Pathogenic
14	87945566	C	T	C87945566T	GALC	NM_000153.4(GALC):c.1657G>A:p.Gly553Arg	coding	Pathogenic/Likely_pathogenic
14	87945591	A	G	A87945591G	GALC	NM_000153.4(GALC):c.1632T>C:p.Asp544=	coding	Benign/Likely_benign
14	87945593	C	T	C87945593T	GALC	NM_000153.4(GALC):c.1630G>A:p.Asp544Asn	coding	Pathogenic
14	87945603	T	C	T87945603C	GALC	NM_000153.4(GALC):c.1620A>G:p.Thr540=	coding	Benign
14	87945631	C	T	C87945631T	GALC	NM_000153.4(GALC):c.1592G>A:p.Arg531His	coding	Pathogenic/Likely_pathogenic
14	87945637	G	A	G87945637A	GALC	NM_000153.4(GALC):c.1586C>T:p.Thr529Met	coding	Pathogenic/Likely_pathogenic
14	87945966	G	A	G87945966A	GALC	NM_000153.4(GALC):c.1490-233C>T	noncoding	Benign
14	87947867	G	A	G87947867A	GALC	NM_000153.4(GALC):c.1350C>T:p.Ser450=	coding	Benign
14	87949686	G	A	G87949686A	GALC	NM_000153.4(GALC):c.1338+159C>T	noncoding	Benign
14	87949822	A	G	A87949822G	GALC	NM_000153.4(GALC):c.1338+23T>C	noncoding	Benign
14	87949881	G	A	G87949881A	GALC	NM_000153.4(GALC):c.1302C>T:p.Ser434=	coding	Benign/Likely_benign
14	87950046	A	G	A87950046G	GALC	NM_000153.4(GALC):c.1252-115T>C	noncoding	Benign
14	87950097	C	T	C87950097T	GALC	NM_000153.4(GALC):c.1252-166G>A	noncoding	Benign
14	87950674	A	T	A87950674T	GALC	NM_000153.4(GALC):c.1236T>A:p.Val412=	coding	Benign
14	87950724	G	A	G87950724A	GALC	NM_000153.4(GALC):c.1186C>T:p.Arg396Trp	coding	Pathogenic
14	87950900	C	T	C87950900T	GALC	NM_000153.4(GALC):c.1162-152G>A	noncoding	Benign
14	87963083	G	A	G87963083A	GALC	NM_000153.4(GALC):c.1161+301C>T	noncoding	Benign
14	87963346	A	G	A87963346G	GALC	NM_000153.4(GALC):c.1161+38T>C	noncoding	Benign
14	87963382	A	C	A87963382C	GALC	NM_000153.4(GALC):c.1161+2T>G	noncoding	Pathogenic
14	87963392	C	A	C87963392A	GALC	NM_000153.4(GALC):c.1153G>T:p.Glu385Ter	coding	Pathogenic
14	87963473	G	A	G87963473A	GALC	NM_000153.4(GALC):c.1072C>T:p.Leu358=	coding	Benign
14	87963636	C	G	C87963636G	GALC	NM_000153.4(GALC):c.1034-125G>C	noncoding	Benign
14	87963781	T	C	T87963781C	GALC	NM_000153.4(GALC):c.1034-270A>G	noncoding	Benign
14	87963825	T	C	T87963825C	GALC	NM_000153.4(GALC):c.1034-314A>G	noncoding	Benign
14	87965360	T	C	T87965360C	GALC	NM_000153.4(GALC):c.1033+145A>G	noncoding	Benign
14	87965532	C	T	C87965532T	GALC	NM_000153.4(GALC):c.1006G>A:p.Val336Met	coding	Benign/Likely_benign
14	87965534	T	C	T87965534C	GALC	NM_000153.4(GALC):c.1004A>G:p.Tyr335Cys	coding	Pathogenic
14	87965554	C	T	C87965554T	GALC	NM_000153.4(GALC):c.984G>A:p.Gln328=	coding	Benign
14	87965585	G	C	G87965585C	GALC	NM_000153.4(GALC):c.953C>G:p.Pro318Arg	coding	Pathogenic
14	87965592	G	A	G87965592A	GALC	NM_000153.4(GALC):c.946C>T:p.Gln316Ter	coding	Pathogenic/Likely_pathogenic
14	87965625	T	C	T87965625C	GALC	NM_000153.4(GALC):c.913A>G:p.Ile305Val	coding	Benign
14	87968065	A	T	A87968065T	GALC	NM_000153.4(GALC):c.908+270T>A	noncoding	Benign
14	87968334	C	T	C87968334T	GALC	NM_000153.4(GALC):c.908+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	87968335	G	A	G87968335A	GALC	NM_000153.4(GALC):c.908C>T:p.Ser303Phe	coding	Pathogenic/Likely_pathogenic
14	87968380	C	T	C87968380T	GALC	NM_000153.4(GALC):c.863G>A:p.Trp288Ter	coding	Pathogenic
14	87968386	C	T	C87968386T	GALC	NM_000153.4(GALC):c.857G>A:p.Gly286Asp	coding	Pathogenic/Likely_pathogenic
14	87968393	C	T	C87968393T	GALC	NM_000153.4(GALC):c.850G>A:p.Gly284Ser	coding	Pathogenic/Likely_pathogenic
14	87976159	T	A	T87976159A	GALC	NM_000153.4(GALC):c.752+199A>T	noncoding	Benign
14	87976361	A	G	A87976361G	GALC	NM_000153.4(GALC):c.749T>C:p.Ile250Thr	coding	Pathogenic/Likely_pathogenic
14	87976452	G	A	G87976452A	GALC	NM_000153.4(GALC):c.658C>T:p.Arg220Ter	coding	Pathogenic/Likely_pathogenic
14	87976482	T	A	T87976482A	GALC	NM_000153.4(GALC):c.628A>T:p.Arg210Ter	coding	Pathogenic
14	87982181	A	G	A87982181G	GALC	NM_000153.4(GALC):c.621+24T>C	noncoding	Benign
14	87982227	G	T	G87982227T	GALC	NM_000153.4(GALC):c.599C>A:p.Ser200Ter	coding	Pathogenic/Likely_pathogenic
14	87982531	C	T	C87982531T	GALC	NM_000153.4(GALC):c.583-288G>A	noncoding	Benign
14	87984523	C	T	C87984523T	GALC	NM_000153.4(GALC):c.453G>A:p.Trp151Ter	coding	Pathogenic
14	87986488	C	T	C87986488T	GALC	NM_000153.4(GALC):c.442+1G>A	noncoding	Pathogenic
14	87986534	A	G	A87986534G	GALC	NM_000153.4(GALC):c.397T>C:p.Leu133=	coding	Benign
14	87986540	A	G	A87986540G	GALC	NM_000153.4(GALC):c.391T>C:p.Trp131Arg	coding	Pathogenic
14	87986552	G	A	G87986552A	GALC	NM_000153.4(GALC):c.379C>T:p.Arg127Ter	coding	Pathogenic
14	87986600	C	T	C87986600T	GALC	NM_000153.4(GALC):c.331G>A:p.Gly111Ser	coding	Pathogenic/Likely_pathogenic
14	87986601	G	A	G87986601A	GALC	NM_000153.4(GALC):c.330C>T:p.Asp110=	coding	Benign
14	87986637	C	T	C87986637T	GALC	NM_000153.4(GALC):c.329-35G>A	noncoding	Benign
14	87988125	A	T	A87988125T	GALC	NM_000153.4(GALC):c.328+19T>A	noncoding	Benign
14	87988143	C	A	C87988143A	GALC	NM_000153.4(GALC):c.328+1G>T	noncoding	Pathogenic/Likely_pathogenic
14	87988514	G	A	G87988514A	GALC	NM_000153.4(GALC):c.205C>T:p.Arg69Ter	coding	Pathogenic
14	87988566	G	A	G87988566A	GALC	NM_000153.4(GALC):c.196-43C>T	noncoding	Benign
14	87992806	C	T	C87992806T	GALC	NM_000153.4(GALC):c.195+164G>A	noncoding	Benign
14	87992951	C	T	C87992951T	GALC	NM_000153.4(GALC):c.195+19G>A	noncoding	Benign/Likely_benign
14	87992960	T	C	T87992960C	GALC	NM_000153.4(GALC):c.195+10A>G	noncoding	Benign/Likely_benign
14	87992970	C	G	C87992970G	GALC	NM_000153.4(GALC):c.195G>C:p.Gly65=	coding	Pathogenic/Likely_pathogenic
14	87992971	C	T	C87992971T	GALC	NM_000153.4(GALC):c.194G>A:p.Gly65Glu	coding	Pathogenic
14	87992996	C	T	C87992996T	GALC	NM_000153.4(GALC):c.169G>A:p.Gly57Ser	coding	Pathogenic
14	87993029	C	A	C87993029A	GALC	NM_000153.4(GALC):c.136G>T:p.Asp46Tyr	coding	Pathogenic
14	87993036	G	C	G87993036C	GALC	NM_000153.4(GALC):c.129C>G:p.Tyr43Ter	coding	Pathogenic/Likely_pathogenic
14	87993044	C	T	C87993044T	GALC	NM_000153.4(GALC):c.121G>A:p.Gly41Ser	coding	Pathogenic
14	87993069	C	A	C87993069A	GALC	NM_000153.4(GALC):c.96G>T:p.Leu32=	coding	Benign
14	87993090	G	T	G87993090T	GALC	NM_000153.4(GALC):c.75C>A:p.Gly25=	coding	Benign
14	87993104	C	G	C87993104G	GALC	NM_000153.4(GALC):c.61G>C:p.Ala21Pro	coding	Benign
14	87993123	C	G	C87993123G	GALC	NM_000153.4(GALC):c.42G>C:p.Ala14=	coding	Benign
14	87993312	A	G	A87993312G	GALC	NM_001201402.2(GALC):c.117+71T>C	noncoding	Benign
14	88385822	G	A	G88385822A	SPATA7	NM_018418.5(SPATA7):c.4G>A:p.Asp2Asn	coding	Benign
14	88385837	G	A	G88385837A	SPATA7	NM_018418.5(SPATA7):c.19G>A:p.Val7Ile	coding	Pathogenic
14	88385838	G	C	G88385838C	SPATA7	NM_018418.5(SPATA7):c.19+1G>C	coding	Pathogenic
14	88396142	C	A	C88396142A	SPATA7	NM_018418.5(SPATA7):c.191-14C>A	noncoding	Benign
14	88396185	G	A	G88396185A	SPATA7	NM_018418.5(SPATA7):c.220G>A:p.Val74Met	coding	Benign
14	88416725	C	T	C88416725T	SPATA7	NM_018418.5(SPATA7):c.253C>T:p.Arg85Ter	coding	Pathogenic/Likely_pathogenic
14	88416756	A	G	A88416756G	SPATA7	NM_018418.5(SPATA7):c.284A>G:p.Gln95Arg	coding	Benign
14	88416760	T	A	T88416760A	SPATA7	NM_018418.5(SPATA7):c.288T>A:p.Cys96Ter	coding	Pathogenic/Likely_pathogenic
14	88416829	T	G	T88416829G	SPATA7	NM_018418.5(SPATA7):c.357T>G:p.Phe119Leu	coding	Benign
14	88416838	A	T	A88416838T	SPATA7	NM_018418.5(SPATA7):c.366A>T:p.Leu122Phe	coding	Benign/Likely_benign
14	88426353	G	A	G88426353A	SPATA7	NM_018418.5(SPATA7):c.494G>A:p.Ser165Asn	coding	Benign
14	88426405	T	C	T88426405C	SPATA7	NM_018418.5(SPATA7):c.546T>C:p.Ser182=	coding	Benign
14	88426622	C	T	C88426622T	SPATA7	NM_018418.5(SPATA7):c.763C>T:p.Gln255Ter	coding	Pathogenic
14	88426705	G	A	G88426705A	SPATA7	NM_018418.5(SPATA7):c.845+1G>A	coding	Pathogenic
14	88429406	G	A	G88429406A	SPATA7	NM_018418.5(SPATA7):c.971G>A:p.Gly324Glu	coding	Benign
14	88437542	G	C	G88437542C	SPATA7	NM_018418.5(SPATA7):c.1161-1G>C	noncoding	Pathogenic
14	88437553	C	T	C88437553T	SPATA7	NM_018418.5(SPATA7):c.1171C>T:p.Arg391Ter	coding	Pathogenic
14	88437565	C	T	C88437565T	SPATA7	NM_018418.5(SPATA7):c.1183C>T:p.Arg395Ter	coding	Pathogenic
14	88437577	C	T	C88437577T	SPATA7	NM_018418.5(SPATA7):c.1195C>T:p.Gln399Ter	coding	Pathogenic
14	88437597	G	T	G88437597T	SPATA7	NM_018418.5(SPATA7):c.1215G>T:p.Glu405Asp	coding	Pathogenic
14	88438223	G	A	G88438223A	SPATA7	NM_018418.5(SPATA7):c.1601G>A:p.Arg534Gln	coding	Benign
14	88469016	C	T	C88469016T	PTPN21	NM_007039.4(PTPN21):c.3296G>A:p.Ser1099Asn	coding	Benign
14	88479169	G	A	G88479169A	PTPN21	NM_007039.4(PTPN21):c.2262C>T:p.Pro754=	coding	Benign
14	88479631	G	C	G88479631C	PTPN21	NM_007039.4(PTPN21):c.1800C>G:p.His600Gln	coding	Benign
14	88572080	C	G	C88572080G	ZC3H14	NM_024824.5(ZC3H14):c.286C>G:p.Pro96Ala	coding	Benign
14	88572575	T	C	T88572575C	ZC3H14	NM_024824.5(ZC3H14):c.432-3T>C	noncoding	Benign
14	88572606	C	T	C88572606T	ZC3H14	NM_024824.5(ZC3H14):c.460C>T:p.Arg154Ter	coding	Pathogenic
14	88572890	T	C	T88572890C	ZC3H14	NM_024824.5(ZC3H14):c.744T>C:p.Asp248=	coding	Benign/Likely_benign
14	88574794	C	T	C88574794T	ZC3H14	NM_024824.5(ZC3H14):c.963C>T:p.Tyr321=	coding	Benign
14	88596758	C	T	C88596758T	ZC3H14	NM_024824.5(ZC3H14):c.1304C>T:p.Ser435Phe	coding	Benign/Likely_benign
14	88610854	A	G	A88610854G	ZC3H14	NM_024824.5(ZC3H14):c.2118A>G:p.Gln706=	coding	Benign
14	88610944	A	C	A88610944C	ZC3H14	NM_024824.5(ZC3H14):c.2204+4A>C	noncoding	Benign
14	88610950	C	G	C88610950G	ZC3H14	NM_024824.5(ZC3H14):c.2204+10C>G	noncoding	Benign
14	88620769	G	T	G88620769T	EML5	NM_024824.5(ZC3H14):c.*9018G>T	coding	Benign
14	88644457	T	C	T88644457C	EML5	NM_183387.3(EML5):c.4083A>G:p.Val1361=	coding	Benign
14	88740517	G	A	G88740517A	EML5	NM_183387.3(EML5):c.581C>T:p.Thr194Met	coding	Benign
14	88833691	A	G	A88833691G	TTC8	NM_144596.3(TTC8):c.115-2A>G	noncoding	Pathogenic
14	88840976	T	C	T88840976C	TTC8	NM_144596.3(TTC8):c.329+48T>C	noncoding	Benign
14	88843851	G	A	G88843851A	TTC8	NM_144596.3(TTC8):c.624+1G>A	coding	Pathogenic
14	88872452	G	C	G88872452C	TTC8	NM_144596.4(TTC8):c.1347G>C:p.Gln449His	coding	Pathogenic
14	88877282	T	C	T88877282C	TTC8	NM_198309.3(TTC8):c.1402-12T>C	noncoding	Benign
14	88877648	G	A	G88877648A	TTC8	NM_144596.4(TTC8):c.*238G>A	noncoding	Benign
14	88877882	A	C	A88877882C	TTC8	NM_144596.4(TTC8):c.*472A>C	noncoding	Benign
14	88877903	T	C	T88877903C	TTC8	NM_144596.4(TTC8):c.*493T>C	noncoding	Benign/Likely_benign
14	89956564	C	A	C89956564A	TDP1	NM_018319.4(TDP1):c.-230-14C>A	noncoding	Benign
14	89956574	G	T	G89956574T	TDP1	NM_018319.4(TDP1):c.-230-4G>T	noncoding	Benign
14	89956584	A	G	A89956584G	TDP1	NM_018319.4(TDP1):c.-224A>G	noncoding	Benign
14	89956631	C	T	C89956631T	TDP1	NM_018319.4(TDP1):c.-177C>T	noncoding	Benign
14	89963399	G	T	G89963399T	TDP1	NM_018319.4(TDP1):c.285G>T:p.Glu95Asp	coding	Benign/Likely_benign
14	89963405	A	G	A89963405G	TDP1	NM_018319.4(TDP1):c.291A>G:p.Gln97=	coding	Benign
14	89963416	C	T	C89963416T	TDP1	NM_018319.4(TDP1):c.302C>T:p.Pro101Leu	coding	Benign/Likely_benign
14	89963514	G	A	G89963514A	TDP1	NM_018319.4(TDP1):c.400G>A:p.Ala134Thr	coding	Benign
14	89963651	C	T	C89963651T	TDP1	NM_018319.4(TDP1):c.537C>T:p.Asn179=	coding	Benign
14	89984542	G	A	G89984542A	TDP1	NM_018319.4(TDP1):c.911G>A:p.Arg304Gln	coding	Benign
14	89985156	A	G	A89985156G	TDP1	NM_018319.4(TDP1):c.1077A>G:p.Pro359=	coding	Benign
14	89985177	A	G	A89985177G	TDP1	NM_018319.4(TDP1):c.1098A>G:p.Gln366=	coding	Benign
14	89985186	T	C	T89985186C	TDP1	NM_018319.4(TDP1):c.1107T>C:p.Asn369=	coding	Benign
14	89988938	G	A	G89988938A	TDP1	NM_018319.4(TDP1):c.1165G>A:p.Ala389Thr	coding	Benign/Likely_benign
14	89989101	G	A	G89989101A	TDP1	NM_018319.4(TDP1):c.1317+11G>A	noncoding	Benign
14	89989775	G	A	G89989775A	TDP1	NM_018319.4(TDP1):c.1366+10G>A	noncoding	Benign/Likely_benign
14	89993420	A	G	A89993420G	TDP1	NM_018319.4(TDP1):c.1478A>G:p.His493Arg	coding	Pathogenic
14	89993478	C	T	C89993478T	TDP1	NM_018319.4(TDP1):c.1536C>T:p.Val512=	coding	Benign
14	90033166	A	G	A90033166G	TDP1	NM_018319.4(TDP1):c.1705A>G:p.Thr569Ala	coding	Benign
14	90043220	C	T	C90043220T	TDP1	NM_018319.4(TDP1):c.*77C>T	noncoding	Benign
14	90043942	A	G	A90043942G	TDP1	NM_018319.4(TDP1):c.*799A>G	noncoding	Benign
14	90044248	A	G	A90044248G	TDP1	NM_018319.4(TDP1):c.*1105A>G	noncoding	Benign
14	90044591	G	A	G90044591A	TDP1	NM_018319.4(TDP1):c.*1448G>A	noncoding	Benign
14	90044595	C	T	C90044595T	TDP1	NM_018319.4(TDP1):c.*1452C>T	noncoding	Benign
14	90044603	C	G	C90044603G	TDP1	NM_018319.4(TDP1):c.*1460C>G	noncoding	Benign
14	90263394	A	G	A90263394G	PSMC1	NM_002802.3(PSMC1):c.231A>G:p.Glu77=	coding	Benign
14	90288593	C	T	C90288593T	NRDE2	NM_017970.4(NRDE2):c.2782G>A:p.Glu928Lys	coding	Benign
14	90397145	G	A	G90397145A	CALM1	NM_006888.6(CALM1):c.-86G>A	noncoding	Benign
14	90397526	C	T	C90397526T	CALM1	NM_006888.6(CALM1):c.3+293C>T	noncoding	Benign
14	90397531	G	T	G90397531T	CALM1	NM_006888.6(CALM1):c.3+298G>T	noncoding	Benign
14	90399936	A	G	A90399936G	CALM1	NM_006888.6(CALM1):c.4-129A>G	noncoding	Benign
14	90400002	C	T	C90400002T	CALM1	NM_006888.6(CALM1):c.4-63C>T	noncoding	Benign
14	90400055	C	G	C90400055G	CALM1	NM_006888.6(CALM1):c.4-10C>G	noncoding	Benign/Likely_benign
14	90400124	G	A	G90400124A	CALM1	NM_006888.6(CALM1):c.34+29G>A	noncoding	Benign
14	90403569	C	T	C90403569T	CALM1	NM_006888.6(CALM1):c.179-293C>T	noncoding	Benign
14	90404386	A	G	A90404386G	CALM1	NM_006888.6(CALM1):c.293A>G:p.Asn98Ser	coding	Pathogenic/Likely_pathogenic
14	90404396	C	T	C90404396T	CALM1	NM_006888.6(CALM1):c.303C>T:p.Ile101=	coding	Benign/Likely_benign
14	90404482	A	G	A90404482G	CALM1	NM_006888.6(CALM1):c.389A>G:p.Asp130Gly	coding	Pathogenic
14	90404487	G	A	G90404487A	CALM1	NM_006888.6(CALM1):c.394G>A:p.Asp132Asn	coding	Pathogenic
14	90404488	A	T	A90404488T	CALM1	NM_006888.6(CALM1):c.395A>T:p.Asp132Val	coding	Pathogenic
14	90404530	C	G	C90404530G	CALM1	NM_006888.6(CALM1):c.421+16C>G	noncoding	Benign
14	90404693	C	A	C90404693A	CALM1	NM_006888.6(CALM1):c.426C>A:p.Phe142Leu	coding	Pathogenic
14	90404693	C	G	C90404693G	CALM1	NM_006888.6(CALM1):c.426C>G:p.Phe142Leu	coding	Pathogenic
14	90578192	G	T	G90578192T	TTC7B	NM_001010854.2(TTC7B):c.2224C>A:p.Leu742Ile	coding	Benign
14	90786169	G	A	G90786169A	TTC7B	NM_001010854.2(TTC7B):c.276+5C>T	noncoding	Benign
14	90786306	G	A	G90786306A	TTC7B	NM_001010854.2(TTC7B):c.144C>T:p.Leu48=	coding	Benign
14	91234830	A	G	A91234830G	GPR68	NM_001177676.2(GPR68):c.221T>C:p.Leu74Pro	coding	Pathogenic
14	91272685	C	T	C91272685T	CCDC88C	NM_001080414.4(CCDC88C):c.6027G>A:p.Pro2009=	coding	Benign
14	91272737	A	G	A91272737G	CCDC88C	NM_001080414.4(CCDC88C):c.5975T>C:p.Leu1992Pro	coding	Benign
14	91272758	G	C	G91272758C	CCDC88C	NM_001080414.4(CCDC88C):c.5954C>G:p.Ser1985Cys	coding	Benign
14	91272761	C	T	C91272761T	CCDC88C	NM_001080414.4(CCDC88C):c.5951G>A:p.Arg1984Gln	coding	Benign/Likely_benign
14	91272764	C	G	C91272764G	CCDC88C	NM_001080414.4(CCDC88C):c.5948G>C:p.Gly1983Ala	coding	Benign
14	91272951	C	T	C91272951T	CCDC88C	NM_001080414.4(CCDC88C):c.5761G>A:p.Gly1921Ser	coding	Benign
14	91273058	C	T	C91273058T	CCDC88C	NM_001080414.4(CCDC88C):c.5654G>A:p.Arg1885His	coding	Benign
14	91273077	G	A	G91273077A	CCDC88C	NM_001080414.4(CCDC88C):c.5635C>T:p.Arg1879Trp	coding	Benign
14	91273322	C	T	C91273322T	CCDC88C	NM_001080414.4(CCDC88C):c.5390G>A:p.Arg1797His	coding	Benign
14	91273331	G	C	G91273331C	CCDC88C	NM_001080414.4(CCDC88C):c.5381C>G:p.Pro1794Arg	coding	Benign
14	91273377	G	A	G91273377A	CCDC88C	NM_001080414.4(CCDC88C):c.5335C>T:p.Leu1779=	coding	Benign
14	91273529	A	G	A91273529G	CCDC88C	NM_001080414.4(CCDC88C):c.5183T>C:p.Phe1728Ser	coding	Benign
14	91277921	C	T	C91277921T	CCDC88C	NM_001080414.4(CCDC88C):c.5058+1G>A	noncoding	Pathogenic
14	91278004	C	T	C91278004T	CCDC88C	NM_001080414.4(CCDC88C):c.4976G>A:p.Arg1659Gln	coding	Benign
14	91278005	G	T	G91278005T	CCDC88C	NM_001080414.4(CCDC88C):c.4975C>A:p.Arg1659=	coding	Benign
14	91278091	C	T	C91278091T	CCDC88C	NM_001080414.4(CCDC88C):c.4889G>A:p.Arg1630His	coding	Benign/Likely_benign
14	91279299	C	T	C91279299T	CCDC88C	NM_001080414.4(CCDC88C):c.4707G>A:p.Arg1569=	coding	Benign/Likely_benign
14	91281488	C	T	C91281488T	CCDC88C	NM_001080414.4(CCDC88C):c.4668G>A:p.Leu1556=	coding	Benign/Likely_benign
14	91283338	G	A	G91283338A	CCDC88C	NM_001080414.4(CCDC88C):c.4621C>T:p.Arg1541Cys	coding	Benign
14	91289113	A	G	A91289113G	CCDC88C	NM_001080414.4(CCDC88C):c.4433T>C:p.Val1478Ala	coding	Benign/Likely_benign
14	91289259	G	A	G91289259A	CCDC88C	NM_001080414.4(CCDC88C):c.4287C>T:p.Thr1429=	coding	Benign
14	91289322	G	A	G91289322A	CCDC88C	NM_001080414.4(CCDC88C):c.4224C>T:p.Ala1408=	coding	Benign
14	91294178	C	T	C91294178T	CCDC88C	NM_001080414.4(CCDC88C):c.4107G>A:p.Gln1369=	coding	Benign
14	91294316	C	T	C91294316T	CCDC88C	NM_001080414.4(CCDC88C):c.3969G>A:p.Leu1323=	coding	Benign
14	91297293	C	T	C91297293T	CCDC88C	NM_001080414.4(CCDC88C):c.3966+12G>A	noncoding	Benign
14	91297371	G	A	G91297371A	CCDC88C	NM_001080414.4(CCDC88C):c.3900C>T:p.Phe1300=	coding	Benign/Likely_benign
14	91297443	G	A	G91297443A	CCDC88C	NM_001080414.4(CCDC88C):c.3828C>T:p.His1276=	coding	Benign
14	91299917	C	T	C91299917T	CCDC88C	NM_001080414.4(CCDC88C):c.3779+10G>A	noncoding	Benign
14	91300049	G	A	G91300049A	CCDC88C	NM_001080414.4(CCDC88C):c.3657C>T:p.Arg1219=	coding	Benign
14	91300084	G	A	G91300084A	CCDC88C	NM_001080414.4(CCDC88C):c.3636-14C>T	noncoding	Benign
14	91303917	T	C	T91303917C	CCDC88C	NM_001080414.4(CCDC88C):c.3419A>G:p.Gln1140Arg	coding	Benign
14	91303943	C	A	C91303943A	CCDC88C	NM_001080414.4(CCDC88C):c.3393G>T:p.Ala1131=	coding	Benign
14	91303964	C	T	C91303964T	CCDC88C	NM_001080414.4(CCDC88C):c.3372G>A:p.Thr1124=	coding	Benign
14	91307150	G	A	G91307150A	CCDC88C	NM_001080414.4(CCDC88C):c.3083C>T:p.Ala1028Val	coding	Benign
14	91307224	T	C	T91307224C	CCDC88C	NM_001080414.4(CCDC88C):c.3009A>G:p.Leu1003=	coding	Benign
14	91313176	C	T	C91313176T	CCDC88C	NM_001080414.4(CCDC88C):c.2640G>A:p.Arg880=	coding	Benign
14	91313248	G	A	G91313248A	CCDC88C	NM_001080414.4(CCDC88C):c.2568C>T:p.Asp856=	coding	Benign
14	91313384	G	T	G91313384T	CCDC88C	NM_001080414.4(CCDC88C):c.2432C>A:p.Ala811Glu	coding	Benign
14	91313612	C	T	C91313612T	CCDC88C	NM_001080414.4(CCDC88C):c.2204G>A:p.Arg735His	coding	Benign
14	91313823	C	T	C91313823T	CCDC88C	NM_001080414.4(CCDC88C):c.1993G>A:p.Glu665Lys	coding	Pathogenic
14	91313854	C	T	C91313854T	CCDC88C	NM_001080414.4(CCDC88C):c.1962G>A:p.Leu654=	coding	Benign/Likely_benign
14	91313907	G	C	G91313907C	CCDC88C	NM_001080414.4(CCDC88C):c.1909C>G:p.Leu637Val	coding	Benign
14	91314043	C	T	C91314043T	CCDC88C	NM_001080414.4(CCDC88C):c.1773G>A:p.Glu591=	coding	Benign
14	91315642	G	A	G91315642A	CCDC88C	NM_001080414.4(CCDC88C):c.1665+8C>T	noncoding	Benign
14	91315707	T	C	T91315707C	CCDC88C	NM_001080414.4(CCDC88C):c.1608A>G:p.Arg536=	coding	Benign
14	91325949	C	G	C91325949G	CCDC88C	NM_001080414.4(CCDC88C):c.1158G>C:p.Glu386Asp	coding	Benign
14	91325976	G	A	G91325976A	CCDC88C	NM_001080414.4(CCDC88C):c.1131C>T:p.Gly377=	coding	Benign
14	91338035	G	A	G91338035A	CCDC88C	NM_001080414.4(CCDC88C):c.1020C>T:p.His340=	coding	Benign
14	91338086	G	A	G91338086A	CCDC88C	NM_001080414.4(CCDC88C):c.969C>T:p.Asn323=	coding	Benign
14	91338121	G	A	G91338121A	CCDC88C	NM_001080414.4(CCDC88C):c.934C>T:p.Arg312Ter	coding	Pathogenic
14	91338143	G	A	G91338143A	CCDC88C	NM_001080414.4(CCDC88C):c.912C>T:p.Asp304=	coding	Benign/Likely_benign
14	91338149	C	T	C91338149T	CCDC88C	NM_001080414.4(CCDC88C):c.906G>A:p.Ala302=	coding	Benign
14	91338150	G	A	G91338150A	CCDC88C	NM_001080414.4(CCDC88C):c.905C>T:p.Ala302Val	coding	Benign
14	91338481	C	T	C91338481T	CCDC88C	NM_001080414.4(CCDC88C):c.891+8G>A	noncoding	Benign
14	91339267	C	T	C91339267T	CCDC88C	NM_001080414.4(CCDC88C):c.809+11G>A	noncoding	Benign
14	91339321	G	A	G91339321A	CCDC88C	NM_001080414.4(CCDC88C):c.766C>T:p.Leu256=	coding	Benign/Likely_benign
14	91339333	G	C	G91339333C	CCDC88C	NM_001080414.4(CCDC88C):c.754C>G:p.Leu252Val	coding	Benign
14	91339385	G	A	G91339385A	CCDC88C	NM_001080414.4(CCDC88C):c.702C>T:p.Ala234=	coding	Benign
14	91342372	G	A	G91342372A	CCDC88C	NM_001080414.4(CCDC88C):c.483+8C>T	noncoding	Benign
14	91343626	C	T	C91343626T	CCDC88C	NM_001080414.4(CCDC88C):c.372G>A:p.Leu124=	coding	Benign
14	91359646	C	T	C91359646T	CCDC88C	NM_001080414.4(CCDC88C):c.336G>A:p.Leu112=	coding	Benign
14	91416785	G	A	G91416785A	CCDC88C	NM_001080414.4(CCDC88C):c.114C>T:p.Tyr38=	coding	Benign
14	91417623	G	T	G91417623T	CCDC88C	NM_001080414.4(CCDC88C):c.60+8C>A	noncoding	Benign
14	91417670	C	T	C91417670T	CCDC88C	NM_001080414.4(CCDC88C):c.21G>A:p.Glu7=	coding	Benign
14	91869577	G	A	G91869577A	FBLN5	NM_006329.3(FBLN5):c.*647C>T	noncoding	Benign/Likely_benign
14	91869601	T	A	T91869601A	FBLN5	NM_006329.3(FBLN5):c.*623A>T	noncoding	Benign
14	91869710	T	C	T91869710C	FBLN5	NM_006329.3(FBLN5):c.*514A>G	noncoding	Benign
14	91869801	A	G	A91869801G	FBLN5	NM_006329.3(FBLN5):c.*423T>C	noncoding	Benign/Likely_benign
14	91869895	A	G	A91869895G	FBLN5	NM_006329.3(FBLN5):c.*329T>C	noncoding	Benign
14	91869898	C	T	C91869898T	FBLN5	NM_006329.3(FBLN5):c.*326G>A	noncoding	Benign
14	91870336	C	T	C91870336T	FBLN5	NM_006329.3(FBLN5):c.1235G>A:p.Gly412Glu	coding	Pathogenic
14	91870645	C	T	C91870645T	FBLN5	NM_006329.3(FBLN5):c.1186-260G>A	noncoding	Benign
14	91877501	C	A	C91877501A	FBLN5	NM_006329.3(FBLN5):c.1171G>T:p.Glu391Ter	coding	Pathogenic
14	91877550	G	A	G91877550A	FBLN5	NM_006329.3(FBLN5):c.1122C>T:p.Tyr374=	coding	Benign/Likely_benign
14	91877559	C	T	C91877559T	FBLN5	NM_006329.3(FBLN5):c.1113G>A:p.Thr371=	coding	Benign/Likely_benign
14	91877582	C	A	C91877582A	FBLN5	NM_006329.3(FBLN5):c.1090G>T:p.Asp364Tyr	coding	Benign
14	91877585	C	T	C91877585T	FBLN5	NM_006329.3(FBLN5):c.1087G>A:p.Ala363Thr	coding	Pathogenic
14	91877956	A	G	A91877956G	FBLN5	NM_006329.3(FBLN5):c.990-274T>C	noncoding	Benign
14	91881279	C	T	C91881279T	FBLN5	NM_006329.3(FBLN5):c.989+13G>A	noncoding	Benign
14	91881336	A	G	A91881336G	FBLN5	NM_006329.3(FBLN5):c.945T>C:p.Ile315=	coding	Benign
14	91881431	G	A	G91881431A	FBLN5	NM_006329.3(FBLN5):c.863-13C>T	noncoding	Benign
14	91882631	A	G	A91882631G	FBLN5	NM_006329.3(FBLN5):c.862+323T>C	noncoding	Benign
14	91887218	A	T	A91887218T	FBLN5	NM_006329.3(FBLN5):c.714T>A:p.Leu238=	coding	Benign/Likely_benign
14	91887253	A	G	A91887253G	FBLN5	NM_006329.3(FBLN5):c.679T>C:p.Ser227Pro	coding	Pathogenic
14	91887283	A	G	A91887283G	FBLN5	NM_006329.3(FBLN5):c.649T>C:p.Cys217Arg	coding	Pathogenic
14	91887320	A	G	A91887320G	FBLN5	NM_006329.3(FBLN5):c.620-8T>C	noncoding	Benign/Likely_benign
14	91887618	C	G	C91887618G	FBLN5	NM_006329.3(FBLN5):c.620-306G>C	noncoding	Benign
14	91890893	C	G	C91890893G	FBLN5	NM_006329.3(FBLN5):c.619+328G>C	noncoding	Benign
14	91891334	A	G	A91891334G	FBLN5	NM_006329.3(FBLN5):c.506T>C:p.Ile169Thr	coding	Pathogenic
14	91894935	C	G	C91894935G	FBLN5	NM_006329.3(FBLN5):c.502+15G>C	noncoding	Benign
14	91895030	G	A	G91895030A	FBLN5	NM_006329.4(FBLN5):c.422C>T:p.Thr141Ile	coding	Benign
14	91937067	G	A	G91937067A	FBLN5	NM_006329.3(FBLN5):c.259C>T:p.Pro87Ser	coding	Pathogenic
14	91937114	C	T	C91937114T	FBLN5	NM_006329.3(FBLN5):c.212G>A:p.Arg71Gln	coding	Pathogenic
14	91937148	C	G	C91937148G	FBLN5	NM_006329.3(FBLN5):c.178G>C:p.Val60Leu	coding	Pathogenic
14	91937246	C	G	C91937246G	FBLN5	NM_006329.3(FBLN5):c.125-45G>C	noncoding	Benign
14	91942881	A	T	A91942881T	FBLN5	NM_006329.3(FBLN5):c.72+26T>A	noncoding	Benign
14	91943048	C	T	C91943048T	FBLN5	NM_006329.3(FBLN5):c.18-87G>A	noncoding	Benign
14	91947286	C	T	C91947286T	FBLN5	NM_006329.3(FBLN5):c.-57G>A	noncoding	Benign/Likely_benign
14	91947381	G	A	G91947381A	FBLN5	NM_006329.3(FBLN5):c.-152C>T	noncoding	Benign
14	91947640	T	C	T91947640C	FBLN5	NM_006329.3(FBLN5):c.-411A>G	noncoding	Benign/Likely_benign
14	91947643	G	A	G91947643A	FBLN5	NM_006329.3(FBLN5):c.-414C>T	noncoding	Benign
14	91947687	C	T	C91947687T	FBLN5	NM_006329.3(FBLN5):c.-458G>A	noncoding	Benign
14	91948036	T	C	T91948036C	FBLN5	NM_006329.3(FBLN5):c.-807A>G	noncoding	Benign
14	91967929	C	T	C91967929T	TRIP11	NM_004239.4(TRIP11):c.*1744G>A	noncoding	Benign
14	91968119	A	T	A91968119T	TRIP11	NM_004239.4(TRIP11):c.*1554T>A	noncoding	Benign
14	91968299	T	G	T91968299G	TRIP11	NM_004239.4(TRIP11):c.*1374A>C	noncoding	Benign
14	91968613	G	A	G91968613A	TRIP11	NM_004239.4(TRIP11):c.*1060C>T	noncoding	Benign
14	91968721	T	A	T91968721A	TRIP11	NM_004239.4(TRIP11):c.*952A>T	noncoding	Benign
14	91968743	G	A	G91968743A	TRIP11	NM_004239.4(TRIP11):c.*930C>T	noncoding	Benign
14	91968924	C	T	C91968924T	TRIP11	NM_004239.4(TRIP11):c.*749G>A	noncoding	Benign
14	91969243	T	C	T91969243C	TRIP11	NM_004239.4(TRIP11):c.*430A>G	noncoding	Benign
14	91969286	G	T	G91969286T	TRIP11	NM_004239.4(TRIP11):c.*387C>A	noncoding	Benign
14	91969328	A	G	A91969328G	TRIP11	NM_004239.4(TRIP11):c.*345T>C	noncoding	Benign
14	91969427	T	C	T91969427C	TRIP11	NM_004239.4(TRIP11):c.*246A>G	noncoding	Benign
14	91969510	G	A	G91969510A	TRIP11	NM_004239.4(TRIP11):c.*163C>T	noncoding	Benign
14	91969832	C	T	C91969832T	TRIP11	NM_004239.4(TRIP11):c.5781G>A:p.Ser1927=	coding	Benign
14	91972403	A	G	A91972403G	TRIP11	NM_004239.4(TRIP11):c.5719+314T>C	noncoding	Benign
14	91972785	T	C	T91972785C	TRIP11	NM_004239.4(TRIP11):c.5651A>G:p.His1884Arg	coding	Benign
14	91974722	C	T	C91974722T	TRIP11	NM_004239.4(TRIP11):c.5479G>A:p.Gly1827Ser	coding	Benign
14	91988289	C	T	C91988289T	TRIP11	NM_004239.4(TRIP11):c.5255G>A:p.Arg1752Lys	coding	Benign
14	91988298	T	G	T91988298G	TRIP11	NM_004239.4(TRIP11):c.5246A>C:p.Glu1749Ala	coding	Benign
14	91988375	C	T	C91988375T	TRIP11	NM_004239.4(TRIP11):c.5169G>A:p.Leu1723=	coding	Benign
14	91993614	C	T	C91993614T	TRIP11	NM_004239.4(TRIP11):c.5160+195G>A	noncoding	Benign
14	91993750	T	C	T91993750C	TRIP11	NM_004239.4(TRIP11):c.5160+59A>G	noncoding	Benign
14	91993883	C	T	C91993883T	TRIP11	NM_004239.4(TRIP11):c.5086G>A:p.Glu1696Lys	coding	Benign
14	91995398	A	G	A91995398G	TRIP11	NM_004239.4(TRIP11):c.5010T>C:p.Ala1670=	coding	Benign/Likely_benign
14	91999320	A	G	A91999320G	TRIP11	NM_004239.4(TRIP11):c.4812T>C:p.Asp1604=	coding	Benign
14	91999405	C	T	C91999405T	TRIP11	NM_004239.4(TRIP11):c.4727G>A:p.Arg1576His	coding	Benign
14	91999767	C	T	C91999767T	TRIP11	NM_004239.4(TRIP11):c.4698+201G>A	noncoding	Benign
14	92000381	T	C	T92000381C	TRIP11	NM_004239.4(TRIP11):c.4558-273A>G	noncoding	Benign
14	92003418	C	A	C92003418A	TRIP11	NM_004239.4(TRIP11):c.4557+1G>T	noncoding	Pathogenic
14	92003469	T	C	T92003469C	TRIP11	NM_004239.4(TRIP11):c.4507A>G:p.Met1503Val	coding	Benign
14	92003563	T	G	T92003563G	TRIP11	NM_004239.4(TRIP11):c.4413A>C:p.Thr1471=	coding	Benign/Likely_benign
14	92003812	G	A	G92003812A	TRIP11	NM_004239.4(TRIP11):c.4164C>T:p.His1388=	coding	Benign/Likely_benign
14	92003817	C	T	C92003817T	TRIP11	NM_004239.4(TRIP11):c.4159G>A:p.Glu1387Lys	coding	Benign/Likely_benign
14	92003837	G	A	G92003837A	TRIP11	NM_004239.4(TRIP11):c.4139C>T:p.Thr1380Ile	coding	Benign/Likely_benign
14	92003849	G	T	G92003849T	TRIP11	NM_004239.4(TRIP11):c.4127C>A:p.Ser1376Ter	coding	Pathogenic
14	92004118	C	T	C92004118T	TRIP11	NM_004239.4(TRIP11):c.3858G>A:p.Gln1286=	coding	Benign
14	92004262	C	T	C92004262T	TRIP11	NM_004239.4(TRIP11):c.3714G>A:p.Glu1238=	coding	Benign
14	92004305	C	T	C92004305T	TRIP11	NM_004239.4(TRIP11):c.3671G>A:p.Trp1224Ter	coding	Pathogenic
14	92004498	G	A	G92004498A	TRIP11	NM_004239.4(TRIP11):c.3478C>T:p.Gln1160Ter	coding	Pathogenic
14	92004670	A	G	A92004670G	TRIP11	NM_004239.4(TRIP11):c.3306T>C:p.Phe1102=	coding	Benign
14	92004829	C	T	C92004829T	TRIP11	NM_004239.4(TRIP11):c.3147G>A:p.Leu1049=	coding	Benign/Likely_benign
14	92004858	T	C	T92004858C	TRIP11	NM_004239.4(TRIP11):c.3118A>G:p.Ile1040Val	coding	Benign
14	92005045	G	A	G92005045A	TRIP11	NM_004239.4(TRIP11):c.2931C>T:p.Thr977=	coding	Benign
14	92005325	T	C	T92005325C	TRIP11	NM_004239.4(TRIP11):c.2651A>G:p.Asp884Gly	coding	Benign
14	92005419	G	A	G92005419A	TRIP11	NM_004239.4(TRIP11):c.2557C>T:p.Arg853Ter	coding	Pathogenic
14	92005593	C	G	C92005593G	TRIP11	NM_004239.4(TRIP11):c.2383G>C:p.Val795Leu	coding	Benign
14	92005759	A	G	A92005759G	TRIP11	NM_004239.4(TRIP11):c.2217T>C:p.Tyr739=	coding	Benign
14	92005842	C	T	C92005842T	TRIP11	NM_004239.4(TRIP11):c.2134G>A:p.Glu712Lys	coding	Benign/Likely_benign
14	92005938	C	A	C92005938A	TRIP11	NM_004239.4(TRIP11):c.2038G>T:p.Glu680Ter	coding	Pathogenic
14	92006072	G	C	G92006072C	TRIP11	NM_004239.4(TRIP11):c.1904C>G:p.Ser635Cys	coding	Benign
14	92006593	A	G	A92006593G	TRIP11	NM_004239.4(TRIP11):c.1528-145T>C	noncoding	Benign
14	92007634	T	C	T92007634C	TRIP11	NM_004239.4(TRIP11):c.1527+6A>G	noncoding	Benign
14	92007650	T	G	T92007650G	TRIP11	NM_004239.4(TRIP11):c.1517A>C:p.Glu506Ala	coding	Benign
14	92010824	A	G	A92010824G	TRIP11	NM_004239.4(TRIP11):c.1314+162T>C	noncoding	Benign
14	92011020	A	T	A92011020T	TRIP11	NM_004239.4(TRIP11):c.1280T>A:p.Leu427Ter	coding	Pathogenic
14	92011854	A	G	A92011854G	TRIP11	NM_004239.4(TRIP11):c.1187-59T>C	noncoding	Benign
14	92014703	A	C	A92014703C	TRIP11	NM_004239.4(TRIP11):c.824-126T>G	noncoding	Benign
14	92015729	G	A	G92015729A	TRIP11	NM_004239.4(TRIP11):c.790C>T:p.Arg264Ter	coding	Pathogenic
14	92015765	G	T	G92015765T	TRIP11	NM_004239.4(TRIP11):c.754C>A:p.Arg252=	coding	Benign/Likely_benign
14	92017883	T	C	T92017883C	TRIP11	NM_004239.4(TRIP11):c.589-133A>G	noncoding	Benign
14	92021739	A	G	A92021739G	TRIP11	NM_004239.4(TRIP11):c.405T>C:p.Ala135=	coding	Benign
14	92025422	T	C	T92025422C	TRIP11	NM_004239.4(TRIP11):c.202-2A>G	noncoding	Pathogenic
14	92025427	A	T	A92025427T	TRIP11	NM_004239.4(TRIP11):c.202-7T>A	noncoding	Benign
14	92033004	T	G	T92033004G	TRIP11	NM_004239.4(TRIP11):c.201+188A>C	noncoding	Benign
14	92033504	G	A	G92033504A	TRIP11	NM_004239.4(TRIP11):c.140-251C>T	noncoding	Benign
14	92033512	G	A	G92033512A	TRIP11	NM_004239.4(TRIP11):c.140-259C>T	noncoding	Benign
14	92039256	C	A	C92039256A	TRIP11	NM_004239.4(TRIP11):c.139+291G>T	noncoding	Benign
14	92039571	T	A	T92039571A	TRIP11	NM_004239.4(TRIP11):c.115A>T:p.Met39Leu	coding	Benign
14	92039579	T	A	T92039579A	TRIP11	NM_004239.4(TRIP11):c.107A>T:p.Asp36Val	coding	Benign/Likely_benign
14	92039746	G	A	G92039746A	TRIP11	NM_004239.4(TRIP11):c.-61C>T	noncoding	Benign
14	92040016	G	C	G92040016C	TRIP11	NM_004239.4(TRIP11):c.-331C>G	noncoding	Benign
14	92040050	G	C	G92040050C	TRIP11	NM_004239.4(TRIP11):c.-365C>G	noncoding	Benign
14	92040239	T	C	T92040239C	TRIP11	NC_000014.9:g.92040239T>C	noncoding	Benign
14	92071010	C	G	C92071010G	ATXN3	NM_004993.6(ATXN3):c.916G>C:p.Gly306Arg	coding	Benign/Likely_benign
14	92323938	G	A	G92323938A	SLC24A4	NM_153648.3(SLC24A4):c.-63+1303G>A	coding	Benign
14	92323938	G	T	G92323938T	SLC24A4	NM_153648.3(SLC24A4):c.-63+1303G>T	coding	Benign
14	92325969	A	G	A92325969G	SLC24A4	NM_153648.3(SLC24A4):c.40A>G:p.Thr14Ala	coding	Benign
14	92433913	G	A	G92433913A	SLC24A4	NM_153648.3(SLC24A4):c.51G>A:p.Ala17=	coding	Benign
14	92442132	C	T	C92442132T	SLC24A4	NM_153648.3(SLC24A4):c.245C>T:p.Ala82Val	coding	Pathogenic
14	92442798	C	T	C92442798T	SLC24A4	NM_153648.3(SLC24A4):c.372C>T:p.Cys124=	coding	Benign
14	92454034	C	T	C92454034T	SLC24A4	NM_153648.3(SLC24A4):c.823C>T:p.Arg275Ter	coding	Pathogenic
14	92456545	C	T	C92456545T	SLC24A4	NM_153648.3(SLC24A4):c.1000C>T:p.Gln334Ter	coding	Pathogenic
14	92486738	A	T	A92486738T	SLC24A4	NM_153648.3(SLC24A4):c.1303A>T:p.Ser435Cys	coding	Pathogenic
14	92486772	C	T	C92486772T	SLC24A4	NM_153648.3(SLC24A4):c.1337C>T:p.Ala446Val	coding	Benign
14	92486787	A	G	A92486787G	SLC24A4	NM_153648.3(SLC24A4):c.1345+7A>G	noncoding	Benign
14	92492195	G	T	G92492195T	SLC24A4	NM_153648.3(SLC24A4):c.1479G>T:p.Gly493=	coding	Benign
14	92492225	C	T	C92492225T	SLC24A4	NM_153648.3(SLC24A4):c.1509C>T:p.Gly503=	coding	Benign
14	92493513	G	A	G92493513A	SLC24A4	NM_153648.3(SLC24A4):c.1562G>A:p.Arg521Gln	coding	Benign
14	92493596	G	A	G92493596A	SLC24A4	NM_153648.3(SLC24A4):c.1645G>A:p.Val549Ile	coding	Benign
14	92493622	C	T	C92493622T	SLC24A4	NM_153648.3(SLC24A4):c.1671C>T:p.Asp557=	coding	Benign
14	92676542	G	A	G92676542A	RIN3	NM_024832.5(RIN3):c.2403G>A:p.Thr801=	coding	Benign
14	92704631	A	G	A92704631G	LGMN	NM_005606.7(LGMN):c.1259+9T>C	noncoding	Benign
14	92711713	G	A	G92711713A	LGMN	NM_005606.7(LGMN):c.765C>T:p.Tyr255=	coding	Benign
14	93721486	C	T	C93721486T	PRIMA1	NM_178013.4(PRIMA1):c.420G>A:p.Ser140=	coding	Benign
14	93721504	C	T	C93721504T	PRIMA1	NM_178013.4(PRIMA1):c.402G>A:p.Glu134=	coding	Benign
14	93779183	G	A	G93779183A	PRIMA1	NM_178013.4(PRIMA1):c.222C>T:p.Ser74=	coding	Benign
14	93779303	A	G	A93779303G	PRIMA1	NM_178013.4(PRIMA1):c.102T>C:p.His34=	coding	Benign
14	93779306	C	T	C93779306T	PRIMA1	NM_178013.4(PRIMA1):c.99G>A:p.Thr33=	coding	Benign
14	94304471	C	T	C94304471T	SERPINA6	NM_001756.4(SERPINA6):c.1165G>A:p.Asp389Asn	coding	Pathogenic/Likely_pathogenic
14	94377228	T	C	T94377228C	SERPINA1	NM_000295.5(SERPINA1):c.*1221A>G	noncoding	Benign
14	94377382	C	T	C94377382T	SERPINA1	NM_000295.5(SERPINA1):c.*1067G>A	noncoding	Benign
14	94377481	A	G	A94377481G	SERPINA1	NM_000295.5(SERPINA1):c.*968T>C	noncoding	Benign
14	94377595	A	G	A94377595G	SERPINA1	NM_000295.5(SERPINA1):c.*854T>C	noncoding	Benign
14	94377968	C	T	C94377968T	SERPINA1	NM_000295.5(SERPINA1):c.*481G>A	noncoding	Benign
14	94378133	C	A	C94378133A	SERPINA1	NM_000295.5(SERPINA1):c.*316G>T	noncoding	Benign
14	94378225	C	T	C94378225T	SERPINA1	NM_000295.5(SERPINA1):c.*224G>A	noncoding	Benign
14	94378480	A	G	A94378480G	SERPINA1	NM_000295.5(SERPINA1):c.1226T>C:p.Met409Thr	coding	Pathogenic
14	94378506	T	G	T94378506G	SERPINA1	NM_001127701.1(SERPINA1):c.1200A>C:p.Glu400Asp	coding	Benign
14	94378528	G	A	G94378528A	SERPINA1	NM_001127701.1(SERPINA1):c.1178C>T:p.Pro393Leu	coding	Pathogenic/Likely_pathogenic
14	94378561	A	C	A94378561C	SERPINA1	NM_001127701.1(SERPINA1):c.1145T>G:p.Met382Arg	coding	Pathogenic
14	94378613	C	T	C94378613T	SERPINA1	NM_000295.4(SERPINA1):c.1093G>A:p.Asp365Asn	coding	Benign/Likely_benign
14	94378638	G	A	G94378638A	SERPINA1	NM_000295.5(SERPINA1):c.1068C>T:p.Ala356=	coding	Benign/Likely_benign
14	94380947	C	A	C94380947A	SERPINA1	NM_000295.5(SERPINA1):c.841G>T:p.Glu281Ter	coding	Pathogenic
14	94380948	A	G	A94380948G	SERPINA1	NM_000295.5(SERPINA1):c.840T>C:p.Asp280=	coding	Benign/Likely_benign
14	94380955	A	G	A94380955G	SERPINA1	NM_000295.5(SERPINA1):c.833T>C:p.Leu278Pro	coding	Pathogenic
14	94381014	C	T	C94381014T	SERPINA1	NM_000295.5(SERPINA1):c.774G>A:p.Lys258=	coding	Benign/Likely_benign
14	94381067	T	A	T94381067A	SERPINA1	NM_000295.4(SERPINA1):c.721A>T:p.Lys241Ter	coding	Pathogenic/Likely_pathogenic
14	94381078	A	G	A94381078G	SERPINA1	NM_001127701.1(SERPINA1):c.710T>C:p.Val237Ala	coding	Benign
14	94382700	G	A	G94382700A	SERPINA1	NM_000295.5(SERPINA1):c.538C>T:p.Gln180Ter	coding	Pathogenic/Likely_pathogenic
14	94382716	G	A	G94382716A	SERPINA1	NM_000295.5(SERPINA1):c.522C>T:p.Thr174=	coding	Benign
14	94382814	G	A	G94382814A	SERPINA1	NM_000295.5(SERPINA1):c.424C>T:p.Leu142=	coding	Benign
14	94382864	C	T	C94382864T	SERPINA1	NM_001127701.1(SERPINA1):c.374G>A:p.Arg125His	coding	Benign
14	94382994	C	G	C94382994G	SERPINA1	NM_000295.5(SERPINA1):c.244G>C:p.Ala82Pro	coding	Pathogenic
14	94383008	G	A	G94383008A	SERPINA1	NM_001127701.1(SERPINA1):c.230C>T:p.Ser77Phe	coding	Pathogenic
14	94383011	A	G	A94383011G	SERPINA1	NM_000295.5(SERPINA1):c.227T>C:p.Phe76Ser	coding	Pathogenic
14	94383044	A	G	A94383044G	SERPINA1	NM_001127701.1(SERPINA1):c.194T>C:p.Leu65Pro	coding	Pathogenic/Likely_pathogenic
14	94383051	G	A	G94383051A	SERPINA1	NM_001127701.1(SERPINA1):c.187C>T:p.Arg63Cys	coding	Pathogenic/Likely_pathogenic
14	94496377	G	A	G94496377A	SERPINA12	NM_173850.4(SERPINA12):c.901C>T:p.Arg301Cys	coding	Benign
14	94496495	T	C	T94496495C	SERPINA12	NM_173850.4(SERPINA12):c.783A>G:p.Glu261=	coding	Benign
14	94496528	G	A	G94496528A	SERPINA12	NM_173850.4(SERPINA12):c.750C>T:p.Gly250=	coding	Benign
14	94497974	G	T	G94497974T	SERPINA12	NM_173850.4(SERPINA12):c.424C>A:p.Gln142Lys	coding	Benign
14	94563894	C	T	C94563894T	SERPINA4	NM_006215.4(SERPINA4):c.412C>T:p.Arg138Cys	coding	Benign
14	94569427	G	A	G94569427A	SERPINA4	NM_006215.4(SERPINA4):c.1116G>A:p.Glu372=	coding	Benign
14	94590070	G	C	G94590070C	SERPINA5	NM_000624.6(SERPINA5):c.649G>C:p.Gly217Arg	coding	Benign
14	94590860	C	T	C94590860T	SERPINA5	NM_000624.6(SERPINA5):c.1002C>T:p.Ser334=	coding	Benign
14	94614466	G	A	G94614466A	SERPINA3	NM_001085.5(SERPINA3):c.25G>A:p.Ala9Thr	coding	Benign
14	94614477	C	T	C94614477T	SERPINA3	NM_001085.5(SERPINA3):c.36C>T:p.Leu12=	coding	Benign
14	94614618	C	T	C94614618T	SERPINA3	NM_001085.5(SERPINA3):c.177C>T:p.Ser59=	coding	Benign
14	94614674	T	C	T94614674C	SERPINA3	NM_001085.5(SERPINA3):c.233T>C:p.Leu78Pro	coding	Pathogenic
14	94614699	C	T	C94614699T	SERPINA3	NM_001085.5(SERPINA3):c.258C>T:p.Phe86=	coding	Benign
14	94614744	A	G	A94614744G	SERPINA3	NM_001085.5(SERPINA3):c.303A>G:p.Lys101=	coding	Benign
14	94615044	G	A	G94615044A	SERPINA3	NM_001085.5(SERPINA3):c.603G>A:p.Ser201=	coding	Benign
14	94619349	G	A	G94619349A	SERPINA3	NM_001085.5(SERPINA3):c.798G>A:p.Leu266=	coding	Benign
14	94619373	A	C	A94619373C	SERPINA3	NM_001085.5(SERPINA3):c.822A>C:p.Ala274=	coding	Benign
14	94769021	G	A	G94769021A	GSC	NM_173849.2(GSC):c.552C>T:p.Tyr184=	coding	Benign
14	94769153	G	A	G94769153A	GSC	NM_173849.2(GSC):c.420C>T:p.Asn140=	coding	Benign
14	94769173	G	A	G94769173A	GSC	NM_173849.2(GSC):c.400C>T:p.Gln134Ter	coding	Pathogenic
14	94769660	C	G	C94769660G	GSC	NM_173849.2(GSC):c.355+1G>C	noncoding	Pathogenic
14	94769802	C	T	C94769802T	GSC	NM_173849.2(GSC):c.214G>A:p.Ala72Thr	coding	Benign
14	94769836	G	T	G94769836T	GSC	NM_173849.2(GSC):c.180C>A:p.Arg60=	coding	Benign
14	94769857	G	A	G94769857A	GSC	NM_173849.2(GSC):c.159C>T:p.Asp53=	coding	Benign
14	95086459	C	T	C95086459T	DICER1	NM_177438.2(DICER1):c.*4039G>A	noncoding	Benign
14	95086612	G	A	G95086612A	DICER1	NM_177438.2(DICER1):c.*3886C>T	noncoding	Benign
14	95086762	A	C	A95086762C	DICER1	NM_177438.2(DICER1):c.*3736T>G	noncoding	Benign
14	95087025	A	G	A95087025G	DICER1	NM_177438.2(DICER1):c.*3473T>C	noncoding	Benign
14	95087157	G	A	G95087157A	DICER1	NM_177438.2(DICER1):c.*3341C>T	noncoding	Benign
14	95087186	C	A	C95087186A	DICER1	NM_177438.2(DICER1):c.*3312G>T	noncoding	Benign
14	95087264	C	A	C95087264A	DICER1	NM_177438.2(DICER1):c.*3234G>T	noncoding	Benign
14	95087313	C	A	C95087313A	DICER1	NM_177438.2(DICER1):c.*3185G>T	noncoding	Benign
14	95087805	T	C	T95087805C	DICER1	NM_177438.2(DICER1):c.*2693A>G	noncoding	Benign
14	95088005	C	T	C95088005T	DICER1	NM_177438.3(DICER1):c.*2493G>A	noncoding	Benign
14	95088118	A	G	A95088118G	DICER1	NM_177438.2(DICER1):c.*2380T>C	noncoding	Benign
14	95088189	T	C	T95088189C	DICER1	NM_177438.2(DICER1):c.*2309A>G	noncoding	Benign
14	95088448	C	G	C95088448G	DICER1	NM_177438.2(DICER1):c.*2050G>C	noncoding	Benign
14	95088868	C	T	C95088868T	DICER1	NM_177438.2(DICER1):c.*1630G>A	noncoding	Benign
14	95088923	T	C	T95088923C	DICER1	NM_177438.2(DICER1):c.*1575A>G	noncoding	Benign
14	95088948	C	T	C95088948T	DICER1	NM_177438.3(DICER1):c.*1550G>A	noncoding	Benign
14	95089063	T	A	T95089063A	DICER1	NM_177438.2(DICER1):c.*1435A>T	noncoding	Benign
14	95089193	T	C	T95089193C	DICER1	NM_177438.3(DICER1):c.*1305A>G	noncoding	Benign
14	95089555	A	T	A95089555T	DICER1	NM_177438.2(DICER1):c.*943T>A	noncoding	Benign
14	95089583	T	C	T95089583C	DICER1	NM_177438.3(DICER1):c.*915A>G	noncoding	Benign
14	95089625	C	T	C95089625T	DICER1	NM_177438.2(DICER1):c.*873G>A	noncoding	Benign
14	95089716	G	A	G95089716A	DICER1	NM_177438.3(DICER1):c.*782C>T	noncoding	Benign
14	95090033	T	C	T95090033C	DICER1	NM_177438.2(DICER1):c.*465A>G	noncoding	Benign
14	95090065	C	A	C95090065A	DICER1	NM_177438.2(DICER1):c.*433G>T	noncoding	Benign
14	95090117	G	A	G95090117A	DICER1	NM_177438.3(DICER1):c.*381C>T	noncoding	Benign
14	95090332	T	C	T95090332C	DICER1	NM_177438.2(DICER1):c.*166A>G	noncoding	Benign
14	95090410	A	T	A95090410T	DICER1	NM_177438.2(DICER1):c.*88T>A	noncoding	Benign
14	95090675	C	T	C95090675T	DICER1	NM_177438.3(DICER1):c.5604-12G>A	noncoding	Benign
14	95091108	T	C	T95091108C	DICER1	NM_177438.2(DICER1):c.5529A>G:p.Glu1843=	coding	Benign/Likely_benign
14	95091236	G	A	G95091236A	DICER1	NM_177438.2(DICER1):c.5494C>T:p.Gln1832Ter	coding	Pathogenic
14	95091238	C	T	C95091238T	DICER1	NM_177438.3(DICER1):c.5492G>A:p.Trp1831Ter	coding	Pathogenic
14	95091253	G	T	G95091253T	DICER1	NM_177438.2(DICER1):c.5477C>A:p.Ser1826Ter	coding	Pathogenic
14	95091265	T	A	T95091265A	DICER1	NM_177438.2(DICER1):c.5465A>T:p.Asp1822Val	coding	Pathogenic
14	95091270	G	C	G95091270C	DICER1	NM_177438.3(DICER1):c.5460C>G:p.Tyr1820Ter	coding	Pathogenic
14	95091289	G	A	G95091289A	DICER1	NM_030621.4(DICER1):c.5441C>T:p.Ser1814Leu	coding	Pathogenic/Likely_pathogenic
14	95091291	C	A	C95091291A	DICER1	NM_177438.3(DICER1):c.5439G>T:p.Glu1813Asp	coding	Pathogenic
14	95091291	C	G	C95091291G	DICER1	NM_177438.3(DICER1):c.5439G>C:p.Glu1813Asp	coding	Pathogenic
14	95091291	C	T	C95091291T	DICER1	NM_177438.3(DICER1):c.5439G>A:p.Glu1813=	coding	Pathogenic
14	95091292	T	A	T95091292A	DICER1	NM_177438.3(DICER1):c.5438A>T:p.Glu1813Val	coding	Pathogenic
14	95091292	T	C	T95091292C	DICER1	NM_177438.3(DICER1):c.5438A>G:p.Glu1813Gly	coding	Pathogenic
14	95091292	T	G	T95091292G	DICER1	NM_177438.3(DICER1):c.5438A>C:p.Glu1813Ala	coding	Pathogenic
14	95091293	C	G	C95091293G	DICER1	NM_177438.3(DICER1):c.5437G>C:p.Glu1813Gln	coding	Pathogenic
14	95091293	C	T	C95091293T	DICER1	NM_177438.3(DICER1):c.5437G>A:p.Glu1813Lys	coding	Pathogenic
14	95091301	T	A	T95091301A	DICER1	NM_177438.3(DICER1):c.5429A>T:p.Asp1810Val	coding	Pathogenic
14	95091301	T	C	T95091301C	DICER1	NM_177438.3(DICER1):c.5429A>G:p.Asp1810Gly	coding	Pathogenic
14	95091302	C	A	C95091302A	DICER1	NM_177438.3(DICER1):c.5428G>T:p.Asp1810Tyr	coding	Pathogenic
14	95091302	C	G	C95091302G	DICER1	NM_177438.3(DICER1):c.5428G>C:p.Asp1810His	coding	Pathogenic
14	95091302	C	T	C95091302T	DICER1	NM_177438.3(DICER1):c.5428G>A:p.Asp1810Asn	coding	Pathogenic
14	95091304	C	T	C95091304T	DICER1	NM_177438.3(DICER1):c.5426G>A:p.Gly1809Glu	coding	Pathogenic
14	95091305	C	A	C95091305A	DICER1	NM_177438.3(DICER1):c.5425G>T:p.Gly1809Trp	coding	Pathogenic
14	95091305	C	G	C95091305G	DICER1	NM_177438.3(DICER1):c.5425G>C:p.Gly1809Arg	coding	Pathogenic
14	95091366	C	A	C95091366A	DICER1	NM_177438.3(DICER1):c.5365-1G>T	coding	Pathogenic
14	95093905	G	A	G95093905A	DICER1	NM_177438.3(DICER1):c.5347C>T:p.Gln1783Ter	coding	Pathogenic
14	95093915	C	T	C95093915T	DICER1	NM_030621.4(DICER1):c.5337G>A:p.Lys1779=	coding	Benign/Likely_benign
14	95094011	C	T	C95094011T	DICER1	NM_030621.4(DICER1):c.5241G>A:p.Ser1747=	coding	Benign/Likely_benign
14	95094049	G	A	G95094049A	DICER1	NM_177438.2(DICER1):c.5203C>T:p.Leu1735=	coding	Benign/Likely_benign
14	95094089	A	T	A95094089T	DICER1	NM_177438.3(DICER1):c.5163T>A:p.Tyr1721Ter	coding	Pathogenic
14	95094107	G	A	G95094107A	DICER1	NM_030621.4(DICER1):c.5145C>T:p.Leu1715=	coding	Benign/Likely_benign
14	95094114	T	G	T95094114G	DICER1	NM_177438.3(DICER1):c.5138A>C:p.Asp1713Ala	coding	Pathogenic
14	95094115	C	T	C95094115T	DICER1	NM_177438.3(DICER1):c.5137G>A:p.Asp1713Asn	coding	Pathogenic
14	95094125	A	C	A95094125C	DICER1	NM_177438.3(DICER1):c.5127T>G:p.Asp1709Glu	coding	Pathogenic
14	95094125	A	T	A95094125T	DICER1	NM_177438.3(DICER1):c.5127T>A:p.Asp1709Glu	coding	Pathogenic
14	95094126	T	A	T95094126A	DICER1	NM_177438.3(DICER1):c.5126A>T:p.Asp1709Val	coding	Pathogenic
14	95094127	C	A	C95094127A	DICER1	NM_177438.3(DICER1):c.5125G>T:p.Asp1709Tyr	coding	Pathogenic
14	95094127	C	G	C95094127G	DICER1	NM_177438.3(DICER1):c.5125G>C:p.Asp1709His	coding	Pathogenic
14	95094127	C	T	C95094127T	DICER1	NM_030621.4(DICER1):c.5125G>A:p.Asp1709Asn	coding	Pathogenic
14	95094129	C	T	C95094129T	DICER1	NM_177438.2(DICER1):c.5123G>A:p.Gly1708Glu	coding	Pathogenic
14	95094137	T	G	T95094137G	DICER1	NM_177438.3(DICER1):c.5115A>C:p.Glu1705Asp	coding	Pathogenic
14	95094138	T	A	T95094138A	DICER1	NM_177438.3(DICER1):c.5114A>T:p.Glu1705Val	coding	Pathogenic
14	95094139	C	G	C95094139G	DICER1	NM_177438.3(DICER1):c.5113G>C:p.Glu1705Gln	coding	Pathogenic
14	95094139	C	T	C95094139T	DICER1	NM_177438.3(DICER1):c.5113G>A:p.Glu1705Lys	coding	Pathogenic
14	95094148	G	A	G95094148A	DICER1	NM_177438.2(DICER1):c.5104C>T:p.Gln1702Ter	coding	Pathogenic
14	95094149	G	C	G95094149C	DICER1	NM_177438.2(DICER1):c.5103C>G:p.Tyr1701Ter	coding	Pathogenic
14	95094149	G	T	G95094149T	DICER1	NM_030621.4(DICER1):c.5103C>A:p.Tyr1701Ter	coding	Pathogenic/Likely_pathogenic
14	95095812	G	A	G95095812A	DICER1	NM_030621.4(DICER1):c.5095+13C>T	noncoding	Benign/Likely_benign
14	95095824	C	G	C95095824G	DICER1	NM_177438.2(DICER1):c.5095+1G>C	noncoding	Pathogenic
14	95095867	G	A	G95095867A	DICER1	NM_177438.2(DICER1):c.5053C>T:p.Gln1685Ter	coding	Pathogenic
14	95095921	C	A	C95095921A	DICER1	NM_177438.2(DICER1):c.4999G>T:p.Glu1667Ter	coding	Pathogenic
14	95096010	G	A	G95096010A	DICER1	NM_177438.2(DICER1):c.4910C>T:p.Ser1637Leu	coding	Benign/Likely_benign
14	95096010	G	T	G95096010T	DICER1	NM_177438.3(DICER1):c.4910C>A:p.Ser1637Ter	coding	Pathogenic
14	95096067	G	T	G95096067T	DICER1	NM_177438.2(DICER1):c.4853C>A:p.Ser1618Ter	coding	Pathogenic
14	95096108	G	T	G95096108T	DICER1	NM_177438.2(DICER1):c.4812C>A:p.Cys1604Ter	coding	Pathogenic
14	95096166	G	C	G95096166C	DICER1	NM_177438.2(DICER1):c.4754C>G:p.Ser1585Ter	coding	Pathogenic
14	95096172	A	C	A95096172C	DICER1	NM_177438.2(DICER1):c.4748T>G:p.Leu1583Arg	coding	Pathogenic
14	95096240	C	T	C95096240T	DICER1	NM_030621.4(DICER1):c.4680G>A:p.Ala1560=	coding	Benign
14	95096266	G	A	G95096266A	DICER1	NM_030621.4(DICER1):c.4654C>T:p.Gln1552Ter	coding	Pathogenic/Likely_pathogenic
14	95096282	G	T	G95096282T	DICER1	NM_177438.2(DICER1):c.4638C>A:p.Tyr1546Ter	coding	Pathogenic
14	95096299	T	A	T95096299A	DICER1	NM_177438.2(DICER1):c.4621A>T:p.Lys1541Ter	coding	Pathogenic
14	95096366	A	T	A95096366T	DICER1	NM_177438.2(DICER1):c.4554T>A:p.Val1518=	coding	Benign/Likely_benign
14	95096387	A	T	A95096387T	DICER1	NM_177438.2(DICER1):c.4533T>A:p.Tyr1511Ter	coding	Pathogenic
14	95096403	C	T	C95096403T	DICER1	NM_177438.2(DICER1):c.4517G>A:p.Trp1506Ter	coding	Pathogenic
14	95096405	A	G	A95096405G	DICER1	NM_030621.4(DICER1):c.4515T>C:p.Ser1505=	coding	Benign/Likely_benign
14	95096482	C	A	C95096482A	DICER1	NM_177438.3(DICER1):c.4438G>T:p.Glu1480Ter	coding	Pathogenic
14	95096513	A	G	A95096513G	DICER1	NM_030621.4(DICER1):c.4407T>C:p.Leu1469=	coding	Benign/Likely_benign
14	95096668	C	A	C95096668A	DICER1	NM_177438.3(DICER1):c.4252G>T:p.Glu1418Ter	coding	Pathogenic
14	95099769	C	A	C95099769A	DICER1	NM_177438.2(DICER1):c.4206+11G>T	noncoding	Benign/Likely_benign
14	95099771	C	A	C95099771A	DICER1	NM_030621.4(DICER1):c.4206+9G>T	noncoding	Benign
14	95099779	C	A	C95099779A	DICER1	NM_030621.4(DICER1):c.4206+1G>T	noncoding	Pathogenic/Likely_pathogenic
14	95099796	C	T	C95099796T	DICER1	NM_177438.2(DICER1):c.4190G>A:p.Trp1397Ter	coding	Pathogenic
14	95099846	C	T	C95099846T	DICER1	NM_030621.4(DICER1):c.4140G>A:p.Trp1380Ter	coding	Pathogenic/Likely_pathogenic
14	95103345	C	T	C95103345T	DICER1	NM_030621.4(DICER1):c.4050+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	95103365	G	C	G95103365C	DICER1	NM_177438.2(DICER1):c.4031C>G:p.Ser1344Ter	coding	Pathogenic
14	95103391	G	C	G95103391C	DICER1	NM_177438.3(DICER1):c.4005C>G:p.Tyr1335Ter	coding	Pathogenic
14	95103397	G	T	G95103397T	DICER1	NM_177438.3(DICER1):c.3999C>A:p.Cys1333Ter	coding	Pathogenic
14	95103424	C	T	C95103424T	DICER1	NM_030621.4(DICER1):c.3972G>A:p.Lys1324=	coding	Benign/Likely_benign
14	95103536	G	C	G95103536C	DICER1	NM_177438.3(DICER1):c.3860C>G:p.Ser1287Ter	coding	Pathogenic
14	95103670	G	C	G95103670C	DICER1	NM_177438.2(DICER1):c.3726C>G:p.Tyr1242Ter	coding	Pathogenic
14	95103670	G	T	G95103670T	DICER1	NM_177438.2(DICER1):c.3726C>A:p.Tyr1242Ter	coding	Pathogenic
14	95103708	G	A	G95103708A	DICER1	NM_177438.2(DICER1):c.3688C>T:p.Gln1230Ter	coding	Pathogenic
14	95103720	C	A	C95103720A	DICER1	NM_177438.2(DICER1):c.3676G>T:p.Glu1226Ter	coding	Pathogenic
14	95103721	G	C	G95103721C	DICER1	NM_177438.2(DICER1):c.3675C>G:p.Tyr1225Ter	coding	Pathogenic
14	95103727	G	C	G95103727C	DICER1	NM_177438.3(DICER1):c.3669C>G:p.Tyr1223Ter	coding	Pathogenic
14	95103738	G	A	G95103738A	DICER1	NM_177438.2(DICER1):c.3658C>T:p.Gln1220Ter	coding	Pathogenic
14	95103749	G	T	G95103749T	DICER1	NM_177438.3(DICER1):c.3647C>A:p.Ser1216Ter	coding	Pathogenic
14	95103805	G	T	G95103805T	DICER1	NM_177438.2(DICER1):c.3591C>A:p.Cys1197Ter	coding	Pathogenic
14	95103856	G	T	G95103856T	DICER1	NM_177438.2(DICER1):c.3540C>A:p.Tyr1180Ter	coding	Pathogenic
14	95103968	A	G	A95103968G	DICER1	NM_177438.2(DICER1):c.3428T>C:p.Leu1143Pro	coding	Benign/Likely_benign
14	95104047	C	A	C95104047A	DICER1	NM_177438.2(DICER1):c.3349G>T:p.Glu1117Ter	coding	Pathogenic
14	95104123	G	C	G95104123C	DICER1	NM_030621.4(DICER1):c.3273C>G:p.Tyr1091Ter	coding	Pathogenic
14	95105057	C	T	C95105057T	DICER1	NM_177438.2(DICER1):c.3269+14G>A	noncoding	Benign/Likely_benign
14	95105079	C	T	C95105079T	DICER1	NM_177438.2(DICER1):c.3261G>A:p.Ala1087=	coding	Benign/Likely_benign
14	95105127	T	C	T95105127C	DICER1	NM_177438.2(DICER1):c.3213A>G:p.Arg1071=	coding	Benign/Likely_benign
14	95105142	A	G	A95105142G	DICER1	NM_030621.4(DICER1):c.3198T>C:p.Thr1066=	coding	Benign
14	95105197	C	T	C95105197T	DICER1	NM_177438.3(DICER1):c.3143G>A:p.Trp1048Ter	coding	Pathogenic
14	95105680	G	A	G95105680A	DICER1	NM_177438.3(DICER1):c.3091C>T:p.Gln1031Ter	coding	Pathogenic
14	95105698	C	A	C95105698A	DICER1	NM_177438.2(DICER1):c.3073G>T:p.Glu1025Ter	coding	Pathogenic
14	95105738	C	T	C95105738T	DICER1	NM_030621.4(DICER1):c.3033G>A:p.Ala1011=	coding	Benign
14	95105752	G	A	G95105752A	DICER1	NM_177438.2(DICER1):c.3019C>T:p.Gln1007Ter	coding	Pathogenic
14	95105764	G	A	G95105764A	DICER1	NM_030621.4(DICER1):c.3007C>T:p.Arg1003Ter	coding	Pathogenic
14	95105774	A	C	A95105774C	DICER1	NM_030621.4(DICER1):c.2997T>G:p.Leu999=	coding	Benign
14	95105784	C	A	C95105784A	DICER1	NM_177438.2(DICER1):c.2988-1G>T	coding	Pathogenic
14	95106100	G	T	G95106100T	DICER1	NM_177438.3(DICER1):c.2928C>A:p.Tyr976Ter	coding	Pathogenic
14	95106153	T	A	T95106153A	DICER1	NM_177438.3(DICER1):c.2875A>T:p.Lys959Ter	coding	Pathogenic
14	95106198	G	A	G95106198A	DICER1	NM_177438.2(DICER1):c.2830C>T:p.Arg944Ter	coding	Pathogenic
14	95106220	A	C	A95106220C	DICER1	NM_177438.3(DICER1):c.2808T>G:p.Tyr936Ter	coding	Pathogenic
14	95106224	C	A	C95106224A	DICER1	NM_177438.2(DICER1):c.2805-1G>T	coding	Pathogenic
14	95107639	C	A	C95107639A	DICER1	NM_177438.3(DICER1):c.2773G>T:p.Glu925Ter	coding	Pathogenic
14	95107641	A	C	A95107641C	DICER1	NM_177438.3(DICER1):c.2771T>G:p.Leu924Ter	coding	Pathogenic
14	95107663	C	A	C95107663A	DICER1	NM_177438.2(DICER1):c.2749G>T:p.Glu917Ter	coding	Pathogenic
14	95107879	C	A	C95107879A	DICER1	NM_177438.2(DICER1):c.2650+1G>T	noncoding	Pathogenic
14	95107916	C	T	C95107916T	DICER1	NM_177438.2(DICER1):c.2614G>A:p.Ala872Thr	coding	Benign/Likely_benign
14	95107973	T	C	T95107973C	DICER1	NM_177438.2(DICER1):c.2557A>G:p.Ile853Val	coding	Benign/Likely_benign
14	95107977	C	T	C95107977T	DICER1	NM_177438.2(DICER1):c.2553G>A:p.Gln851=	coding	Benign/Likely_benign
14	95108014	G	A	G95108014A	DICER1	NM_177438.2(DICER1):c.2516C>T:p.Ser839Phe	coding	Pathogenic/Likely_pathogenic
14	95108073	G	C	G95108073C	DICER1	NM_177438.2(DICER1):c.2457C>G:p.Tyr819Ter	coding	Pathogenic/Likely_pathogenic
14	95108094	C	T	C95108094T	DICER1	NM_177438.3(DICER1):c.2437-1G>A	coding	Pathogenic
14	95108095	T	C	T95108095C	DICER1	NM_177438.2(DICER1):c.2437-2A>G	noncoding	Pathogenic
14	95108323	C	T	C95108323T	DICER1	NM_177438.3(DICER1):c.2436+1G>A	noncoding	Pathogenic
14	95108390	C	T	C95108390T	DICER1	NM_030621.4(DICER1):c.2370G>A:p.Arg790=	coding	Benign
14	95108410	C	A	C95108410A	DICER1	NM_177438.2(DICER1):c.2350G>T:p.Glu784Ter	coding	Pathogenic
14	95111316	C	G	C95111316G	DICER1	NM_177438.3(DICER1):c.2256+1G>C	noncoding	Pathogenic
14	95111316	C	T	C95111316T	DICER1	NM_177438.2(DICER1):c.2256+1G>A	noncoding	Pathogenic
14	95111326	G	T	G95111326T	DICER1	NM_177438.2(DICER1):c.2247C>A:p.Tyr749Ter	coding	Pathogenic
14	95111337	T	C	T95111337C	DICER1	NM_177438.2(DICER1):c.2236A>G:p.Arg746Gly	coding	Pathogenic
14	95111340	G	A	G95111340A	DICER1	NM_177438.2(DICER1):c.2233C>T:p.Arg745Ter	coding	Pathogenic
14	95111407	A	C	A95111407C	DICER1	NM_177438.3(DICER1):c.2166T>G:p.Tyr722Ter	coding	Pathogenic
14	95111454	C	A	C95111454A	DICER1	NM_177438.3(DICER1):c.2119G>T:p.Glu707Ter	coding	Pathogenic
14	95111457	C	T	C95111457T	DICER1	NM_177438.3(DICER1):c.2117-1G>A	coding	Pathogenic
14	95112173	A	G	A95112173G	DICER1	NM_177438.2(DICER1):c.2115T>C:p.Ile705=	coding	Benign/Likely_benign
14	95112226	G	A	G95112226A	DICER1	NM_177438.2(DICER1):c.2062C>T:p.Arg688Ter	coding	Pathogenic
14	95112338	T	C	T95112338C	DICER1	NM_177438.2(DICER1):c.2041-91A>G	noncoding	Benign
14	95113091	C	A	C95113091A	DICER1	NM_177438.2(DICER1):c.2040+1G>T	noncoding	Pathogenic
14	95113091	C	G	C95113091G	DICER1	NM_177438.3(DICER1):c.2040+1G>C	noncoding	Pathogenic
14	95113091	C	T	C95113091T	DICER1	NM_177438.2(DICER1):c.2040+1G>A	noncoding	Pathogenic
14	95113106	G	A	G95113106A	DICER1	NM_030621.4(DICER1):c.2026C>T:p.Arg676Ter	coding	Pathogenic
14	95113114	G	C	G95113114C	DICER1	NM_177438.2(DICER1):c.2018C>G:p.Ser673Ter	coding	Pathogenic
14	95113166	G	A	G95113166A	DICER1	NM_030621.4(DICER1):c.1966C>T:p.Arg656Ter	coding	Pathogenic
14	95113179	A	G	A95113179G	DICER1	NM_177438.2(DICER1):c.1953T>C:p.Pro651=	coding	Benign/Likely_benign
14	95113197	C	T	C95113197T	DICER1	NM_030621.4(DICER1):c.1935G>A:p.Pro645=	coding	Benign/Likely_benign
14	95113228	T	C	T95113228C	DICER1	NM_177438.2(DICER1):c.1908-4A>G	noncoding	Benign/Likely_benign
14	95113301	G	A	G95113301A	DICER1	NM_177438.2(DICER1):c.1908-77C>T	noncoding	Benign
14	95115562	G	A	G95115562A	DICER1	NM_030621.4(DICER1):c.1907+105C>T	noncoding	Benign
14	95115666	C	T	C95115666T	DICER1	NM_030621.4(DICER1):c.1907+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	95115687	C	T	C95115687T	DICER1	NM_030621.4(DICER1):c.1887G>A:p.Thr629=	coding	Benign
14	95115704	G	A	G95115704A	DICER1	NM_030621.4(DICER1):c.1870C>T:p.Arg624Ter	coding	Pathogenic
14	95115727	A	T	A95115727T	DICER1	NM_177438.2(DICER1):c.1847T>A:p.Leu616Ter	coding	Pathogenic
14	95115749	C	A	C95115749A	DICER1	NM_177438.2(DICER1):c.1825G>T:p.Asp609Tyr	coding	Benign/Likely_benign
14	95116207	A	C	A95116207C	DICER1	NM_177438.2(DICER1):c.1752+246T>G	noncoding	Benign
14	95116513	C	T	C95116513T	DICER1	NM_177438.2(DICER1):c.1692G>A:p.Ala564=	coding	Benign/Likely_benign
14	95116554	C	A	C95116554A	DICER1	NM_177438.2(DICER1):c.1651G>T:p.Gly551Ter	coding	Pathogenic
14	95116575	G	A	G95116575A	DICER1	NM_030621.4(DICER1):c.1630C>T:p.Arg544Ter	coding	Pathogenic
14	95116662	G	A	G95116662A	DICER1	NM_177438.2(DICER1):c.1543C>T:p.Leu515=	coding	Benign/Likely_benign
14	95116680	G	A	G95116680A	DICER1	NM_030621.4(DICER1):c.1525C>T:p.Arg509Ter	coding	Pathogenic
14	95117624	C	A	C95117624A	DICER1	NM_177438.2(DICER1):c.1507G>T:p.Glu503Ter	coding	Pathogenic
14	95117630	G	A	G95117630A	DICER1	NM_177438.2(DICER1):c.1501C>T:p.Gln501Ter	coding	Pathogenic
14	95117633	T	A	T95117633A	DICER1	NM_177438.2(DICER1):c.1498A>T:p.Lys500Ter	coding	Pathogenic
14	95117723	C	A	C95117723A	DICER1	NM_177438.2(DICER1):c.1408G>T:p.Glu470Ter	coding	Pathogenic
14	95124195	C	A	C95124195A	DICER1	NM_177438.2(DICER1):c.1376+1G>T	noncoding	Pathogenic
14	95124195	C	T	C95124195T	DICER1	NM_177438.2(DICER1):c.1376+1G>A	noncoding	Pathogenic
14	95124216	G	C	G95124216C	DICER1	NM_177438.2(DICER1):c.1356C>G:p.Tyr452Ter	coding	Pathogenic
14	95124326	C	A	C95124326A	DICER1	NM_177438.2(DICER1):c.1246G>T:p.Glu416Ter	coding	Pathogenic
14	95124336	C	T	C95124336T	DICER1	NM_177438.3(DICER1):c.1236G>A:p.Trp412Ter	coding	Pathogenic
14	95124339	T	C	T95124339C	DICER1	NM_030621.4(DICER1):c.1233A>G:p.Ser411=	coding	Benign/Likely_benign
14	95124340	G	T	G95124340T	DICER1	NM_177438.3(DICER1):c.1232C>A:p.Ser411Ter	coding	Pathogenic
14	95124372	C	T	C95124372T	DICER1	NM_177438.3(DICER1):c.1200G>A:p.Trp400Ter	coding	Pathogenic
14	95124395	G	A	G95124395A	DICER1	NM_177438.3(DICER1):c.1177C>T:p.Gln393Ter	coding	Pathogenic
14	95124398	G	A	G95124398A	DICER1	NM_030621.4(DICER1):c.1174C>T:p.Arg392Ter	coding	Pathogenic/Likely_pathogenic
14	95124428	C	A	C95124428A	DICER1	NM_177438.2(DICER1):c.1144G>T:p.Glu382Ter	coding	Pathogenic
14	95124576	G	A	G95124576A	DICER1	NM_177438.2(DICER1):c.996C>T:p.Tyr332=	coding	Benign/Likely_benign
14	95124576	G	T	G95124576T	DICER1	NM_177438.2(DICER1):c.996C>A:p.Tyr332Ter	coding	Pathogenic
14	95124584	G	A	G95124584A	DICER1	NM_177438.3(DICER1):c.988C>T:p.Gln330Ter	coding	Pathogenic
14	95124614	T	A	T95124614A	DICER1	NM_177438.3(DICER1):c.958A>T:p.Lys320Ter	coding	Pathogenic
14	95124625	C	T	C95124625T	DICER1	NM_030621.4(DICER1):c.947G>A:p.Trp316Ter	coding	Pathogenic
14	95124648	G	A	G95124648A	DICER1	NM_177438.2(DICER1):c.924C>T:p.Ala308=	coding	Benign/Likely_benign
14	95124661	G	T	G95124661T	DICER1	NM_177438.3(DICER1):c.911C>A:p.Ser304Ter	coding	Pathogenic
14	95124669	C	T	C95124669T	DICER1	NM_177438.3(DICER1):c.904-1G>A	coding	Pathogenic
14	95126582	G	A	G95126582A	DICER1	NM_177438.2(DICER1):c.901C>T:p.Gln301Ter	coding	Pathogenic
14	95126599	G	C	G95126599C	DICER1	NM_030621.4(DICER1):c.884C>G:p.Ser295Cys	coding	Benign/Likely_benign
14	95126614	G	C	G95126614C	DICER1	NM_177438.3(DICER1):c.869C>G:p.Ser290Ter	coding	Pathogenic
14	95126651	G	A	G95126651A	DICER1	NM_177438.2(DICER1):c.832C>T:p.Leu278Phe	coding	Pathogenic
14	95126660	C	A	C95126660A	DICER1	NM_177438.2(DICER1):c.823G>T:p.Glu275Ter	coding	Pathogenic
14	95126738	G	A	G95126738A	DICER1	NM_177438.2(DICER1):c.745C>T:p.Gln249Ter	coding	Pathogenic
14	95129317	T	C	T95129317C	DICER1	NM_177438.2(DICER1):c.734+155A>G	noncoding	Benign
14	95129470	A	G	A95129470G	DICER1	NM_177438.3(DICER1):c.734+2T>C	noncoding	Pathogenic
14	95129577	A	C	A95129577C	DICER1	NM_177438.2(DICER1):c.629T>G:p.Leu210Ter	coding	Pathogenic
14	95129609	A	T	A95129609T	DICER1	NM_177438.3(DICER1):c.597T>A:p.Cys199Ter	coding	Pathogenic
14	95130072	G	A	G95130072A	DICER1	NM_177438.2(DICER1):c.559C>T:p.Arg187Ter	coding	Pathogenic
14	95130142	G	C	G95130142C	DICER1	NM_177438.2(DICER1):c.489C>G:p.Tyr163Ter	coding	Pathogenic
14	95130146	C	T	C95130146T	DICER1	NM_177438.2(DICER1):c.485G>A:p.Gly162Asp	coding	Benign/Likely_benign
14	95130199	T	A	T95130199A	DICER1	NM_177438.2(DICER1):c.439-7A>T	noncoding	Benign/Likely_benign
14	95131573	G	C	G95131573C	DICER1	NM_177438.3(DICER1):c.374C>G:p.Ser125Ter	coding	Pathogenic
14	95131593	A	G	A95131593G	DICER1	NM_177438.2(DICER1):c.354T>C:p.Asp118=	coding	Benign/Likely_benign
14	95133359	G	A	G95133359A	DICER1	NM_177438.2(DICER1):c.100C>T:p.Gln34Ter	coding	Pathogenic
14	95133363	C	T	C95133363T	DICER1	NM_177438.3(DICER1):c.96G>A:p.Trp32Ter	coding	Pathogenic
14	95133400	G	A	G95133400A	DICER1	NM_177438.2(DICER1):c.59C>T:p.Ala20Val	coding	Benign/Likely_benign
14	95157257	G	A	G95157257A	DICER1	NM_177438.2(DICER1):c.-73C>T	noncoding	Benign
14	95157306	C	T	C95157306T	DICER1	NM_177438.3(DICER1):c.-122G>A	noncoding	Benign
14	95157348	G	A	G95157348A	DICER1	NM_177438.2(DICER1):c.-164C>T	noncoding	Benign
14	95191685	G	A	G95191685A	CLMN	NM_024734.4(CLMN):c.2888C>T:p.Pro963Leu	coding	Benign
14	95193845	C	T	C95193845T	CLMN	NM_024734.4(CLMN):c.2840+4G>A	noncoding	Benign
14	95196508	T	A	T95196508A	CLMN	NM_024734.4(CLMN):c.2698A>T:p.Ile900Phe	coding	Benign
14	95202828	G	A	G95202828A	CLMN	NM_024734.4(CLMN):c.2511+10C>T	noncoding	Benign
14	95202997	C	T	C95202997T	CLMN	NM_024734.4(CLMN):c.2352G>A:p.Ser784=	coding	Benign
14	95203150	C	T	C95203150T	CLMN	NM_024734.4(CLMN):c.2199G>A:p.Glu733=	coding	Benign
14	95203573	G	A	G95203573A	CLMN	NM_024734.4(CLMN):c.1776C>T:p.Asp592=	coding	Benign
14	95203795	G	A	G95203795A	CLMN	NM_024734.4(CLMN):c.1554C>T:p.His518=	coding	Benign
14	95203884	C	A	C95203884A	CLMN	NM_024734.4(CLMN):c.1465G>T:p.Val489Phe	coding	Benign
14	95204280	C	T	C95204280T	CLMN	NM_024734.4(CLMN):c.1069G>A:p.Glu357Lys	coding	Benign
14	95215725	C	A	C95215725A	CLMN	NM_024734.4(CLMN):c.333G>T:p.Leu111=	coding	Benign
14	95535073	C	A	C95535073A	GLRX5	NM_016417.3(GLRX5):c.-17C>A	noncoding	Benign
14	95535287	G	A	G95535287A	GLRX5	NM_016417.3(GLRX5):c.198G>A:p.Gln66=	coding	Benign
14	95535289	G	A	G95535289A	GLRX5	NM_016417.3(GLRX5):c.200G>A:p.Cys67Tyr	coding	Pathogenic
14	95535293	C	T	C95535293T	GLRX5	NM_016417.3(GLRX5):c.204C>T:p.Gly68=	coding	Benign
14	95535329	C	T	C95535329T	GLRX5	NM_016417.3(GLRX5):c.240C>T:p.His80=	coding	Benign
14	95535383	A	G	A95535383G	GLRX5	NM_016417.3(GLRX5):c.294A>G:p.Gln98=	coding	Pathogenic
14	95535614	C	T	C95535614T	GLRX5	NM_016417.3(GLRX5):c.295+230C>T	noncoding	Benign
14	95535695	A	G	A95535695G	GLRX5	NM_016417.3(GLRX5):c.295+311A>G	noncoding	Benign
14	95543952	A	C	A95543952C	GLRX5	NM_016417.3(GLRX5):c.301A>C:p.Lys101Gln	coding	Pathogenic
14	95543957	C	T	C95543957T	GLRX5	NM_016417.3(GLRX5):c.306C>T:p.Asp102=	coding	Benign/Likely_benign
14	95544034	T	A	T95544034A	GLRX5	NM_016417.3(GLRX5):c.383T>A:p.Met128Lys	coding	Pathogenic
14	95544087	G	A	G95544087A	GLRX5	NM_016417.3(GLRX5):c.436G>A:p.Ala146Thr	coding	Benign
14	95544094	T	C	T95544094C	GLRX5	NM_016417.3(GLRX5):c.443T>C:p.Leu148Ser	coding	Pathogenic
14	95714036	C	T	C95714036T	TCL1A	NM_021966.3(TCL1A):c.31G>A:p.Val11Ile	coding	Benign
14	96241261	T	C	T96241261C	BDKRB2	NM_000623.3(BDKRB2):c.933T>C:p.Asp311=	coding	Benign
14	96241389	G	A	G96241389A	BDKRB2	NM_000623.3(BDKRB2):c.1061G>A:p.Gly354Glu	coding	Benign
14	96289757	T	C	T96289757C	ATG2B	NM_018036.7(ATG2B):c.5905A>G:p.Ile1969Val	coding	Benign
14	96301998	G	A	G96301998A	ATG2B	NM_018036.7(ATG2B):c.5139+9C>T	noncoding	Benign
14	96303199	G	A	G96303199A	ATG2B	NM_018036.7(ATG2B):c.4899C>T:p.Leu1633=	coding	Benign
14	96303229	C	T	C96303229T	ATG2B	NM_018036.7(ATG2B):c.4869G>A:p.Pro1623=	coding	Benign
14	96315587	G	C	G96315587C	ATG2B	NM_018036.7(ATG2B):c.3362-4C>G	noncoding	Benign
14	96317747	A	G	A96317747G	ATG2B	NM_018036.7(ATG2B):c.2988T>C:p.Asn996=	coding	Benign
14	96329606	A	G	A96329606G	ATG2B	NM_018036.7(ATG2B):c.1759T>C:p.Tyr587His	coding	Benign
14	96332337	T	C	T96332337C	ATG2B	NM_018036.7(ATG2B):c.1436A>G:p.Asn479Ser	coding	Benign
14	96332343	G	A	G96332343A	ATG2B	NM_018036.7(ATG2B):c.1430C>T:p.Pro477Leu	coding	Benign
14	96332503	C	T	C96332503T	ATG2B	NM_018036.7(ATG2B):c.1360G>A:p.Val454Met	coding	Benign
14	96345249	A	G	A96345249G	ATG2B	NM_018036.7(ATG2B):c.462T>C:p.Ala154=	coding	Benign
14	96404767	G	A	G96404767A	AK7	NM_152327.5(AK7):c.305G>A:p.Arg102Gln	coding	Benign
14	96449891	C	T	C96449891T	AK7	NM_152327.5(AK7):c.948+12C>T	noncoding	Benign
14	96456401	A	G	A96456401G	AK7	NM_152327.5(AK7):c.1153A>G:p.Lys385Glu	coding	Benign
14	96456415	C	G	C96456415G	AK7	NM_152327.5(AK7):c.1167C>G:p.Asn389Lys	coding	Benign
14	96486941	T	G	T96486941G	AK7	NM_152327.5(AK7):c.2018T>G:p.Leu673Arg	coding	Pathogenic
14	96502607	A	C	A96502607C	PAPOLA	NM_032632.4(PAPOLA):c.8+7A>C	noncoding	Benign
14	96531537	T	C	T96531537C	PAPOLA	NM_032632.4(PAPOLA):c.558T>C:p.Asp186=	coding	Benign
14	96552527	C	T	C96552527T	PAPOLA	NM_032632.4(PAPOLA):c.1569C>T:p.Leu523=	coding	Benign
14	96552590	C	T	C96552590T	PAPOLA	NM_032632.4(PAPOLA):c.1632C>T:p.Thr544=	coding	Benign
14	96833254	G	A	G96833254A	VRK1	NM_003384.3(VRK1):c.-5-213G>A	noncoding	Benign
14	96833516	A	G	A96833516G	VRK1	NM_003384.3(VRK1):c.45A>G:p.Ala15=	coding	Benign
14	96833627	T	A	T96833627A	VRK1	NM_003384.3(VRK1):c.156T>A:p.Tyr52Ter	coding	Pathogenic
14	96837479	C	T	C96837479T	VRK1	NM_003384.3(VRK1):c.161-283C>T	noncoding	Benign
14	96837542	A	G	A96837542G	VRK1	NM_003384.3(VRK1):c.161-220A>G	noncoding	Benign
14	96837617	A	G	A96837617G	VRK1	NM_003384.3(VRK1):c.161-145A>G	noncoding	Benign
14	96838116	T	C	T96838116C	VRK1	NM_003384.3(VRK1):c.216+299T>C	noncoding	Benign
14	96845851	T	C	T96845851C	VRK1	NM_003384.3(VRK1):c.217-244T>C	noncoding	Benign
14	96846143	C	T	C96846143T	VRK1	NM_003384.3(VRK1):c.265C>T:p.Arg89Ter	coding	Pathogenic
14	96846305	G	A	G96846305A	VRK1	NM_003384.3(VRK1):c.286+141G>A	noncoding	Benign
14	96847065	G	T	G96847065T	VRK1	NM_003384.3(VRK1):c.287-192G>T	noncoding	Benign
14	96852823	G	C	G96852823C	VRK1	NM_003384.3(VRK1):c.375-8G>C	noncoding	Benign
14	96855284	T	C	T96855284C	VRK1	NM_003384.3(VRK1):c.637T>C:p.Tyr213His	coding	Pathogenic
14	96855307	T	A	T96855307A	VRK1	NM_003384.3(VRK1):c.660T>A:p.Cys220Ter	coding	Pathogenic
14	96855352	C	T	C96855352T	VRK1	NM_003384.3(VRK1):c.705C>T:p.Gly235=	coding	Benign
14	96855431	G	A	G96855431A	VRK1	NM_003384.3(VRK1):c.709+75G>A	noncoding	Benign
14	96855432	C	T	C96855432T	VRK1	NM_003384.3(VRK1):c.709+76C>T	noncoding	Benign
14	96855499	G	A	G96855499A	VRK1	NM_003384.3(VRK1):c.709+143G>A	noncoding	Benign
14	96855799	G	A	G96855799A	VRK1	NM_003384.3(VRK1):c.710-331G>A	noncoding	Benign
14	96860643	C	T	C96860643T	VRK1	NM_003384.3(VRK1):c.976C>T:p.Gln326Ter	coding	Pathogenic
14	96860733	A	T	A96860733T	VRK1	NM_003384.3(VRK1):c.1066A>T:p.Lys356Ter	coding	Pathogenic
14	96876033	C	T	C96876033T	VRK1	NM_003384.3(VRK1):c.1072C>T:p.Arg358Ter	coding	Pathogenic
14	96876163	C	G	C96876163G	VRK1	NM_003384.3(VRK1):c.1159+43C>G	noncoding	Benign
14	99174415	G	C	G99174415C	BCL11B	NM_138576.4(BCL11B):c.2421C>G:p.Asn807Lys	coding	Pathogenic/Likely_pathogenic
14	99175341	C	A	C99175341A	BCL11B	NM_138576.4(BCL11B):c.1495G>T:p.Glu499Ter	coding	Pathogenic
14	99175399	G	A	G99175399A	BCL11B	NM_138576.4(BCL11B):c.1437C>T:p.His479=	coding	Benign
14	99175513	A	C	A99175513C	BCL11B	NM_138576.4(BCL11B):c.1323T>G:p.Asn441Lys	coding	Pathogenic
14	99175825	G	A	G99175825A	BCL11B	NM_138576.4(BCL11B):c.1011C>T:p.Leu337=	coding	Benign
14	99176115	G	A	G99176115A	BCL11B	NM_138576.4(BCL11B):c.721C>T:p.Gln241Ter	coding	Pathogenic
14	99257660	G	A	G99257660A	BCL11B	NM_138576.4(BCL11B):c.238C>T:p.Gln80Ter	coding	Pathogenic
14	99405261	T	C	T99405261C	SETD3	NM_032233.3(SETD3):c.1035A>G:p.Lys345=	coding	Benign
14	99413068	A	G	A99413068G	SETD3	NM_032233.3(SETD3):c.735-3T>C	noncoding	Benign
14	99458390	G	A	G99458390A	SETD3	NM_032233.3(SETD3):c.564C>T:p.Tyr188=	coding	Benign
14	99461306	A	G	A99461306G	SETD3	NM_032233.3(SETD3):c.231T>C:p.Asp77=	coding	Benign
14	99465734	T	C	T99465734C	SETD3	NM_032233.3(SETD3):c.72A>G:p.Glu24=	coding	Benign
14	99495549	A	G	A99495549G	CCNK	NM_001099402.2(CCNK):c.331A>G:p.Lys111Glu	coding	Pathogenic
14	99865589	G	A	G99865589A	EML1	NM_004434.3(EML1):c.326G>A:p.Gly109Asp	coding	Benign
14	99865608	C	T	C99865608T	EML1	NM_004434.3(EML1):c.345C>T:p.Ser115=	coding	Benign
14	99878513	C	T	C99878513T	EML1	NM_004434.3(EML1):c.412C>T:p.Arg138Ter	coding	Pathogenic
14	99878628	G	A	G99878628A	EML1	NM_004434.3(EML1):c.518+9G>A	noncoding	Benign
14	99894754	T	C	T99894754C	EML1	NM_004434.3(EML1):c.673T>C:p.Trp225Arg	coding	Pathogenic
14	99897194	A	G	A99897194G	EML1	NM_004434.3(EML1):c.727A>G:p.Thr243Ala	coding	Pathogenic
14	99898311	C	T	C99898311T	EML1	NM_004434.3(EML1):c.897+9C>T	noncoding	Benign
14	99907676	C	T	C99907676T	EML1	NM_004434.3(EML1):c.1047C>T:p.Asn349=	coding	Benign
14	99914251	C	T	C99914251T	EML1	NM_004434.3(EML1):c.1567C>T:p.Arg523Ter	coding	Pathogenic
14	99914658	C	T	C99914658T	EML1	NM_004434.3(EML1):c.1713C>T:p.Asp571=	coding	Benign
14	99917823	G	A	G99917823A	EML1	NM_004434.3(EML1):c.1794G>A:p.Val598=	coding	Benign
14	99936108	G	A	G99936108A	EML1	NM_004434.3(EML1):c.1989G>A:p.Thr663=	coding	Benign
14	99937920	T	G	T99937920G	EML1	NM_004434.3(EML1):c.2191+8T>G	noncoding	Benign
14	99939225	C	G	C99939225G	EML1	NM_004434.3(EML1):c.2220C>G:p.Thr740=	coding	Benign
14	100097531	G	A	G100097531A	EVL	NM_016337.3(EVL):c.231G>A:p.Thr77=	coding	Benign
14	100135929	C	G	C100135929G	EVL	NM_016337.3(EVL):c.925C>G:p.Pro309Ala	coding	Benign
14	100146860	G	A	G100146860A	DEGS2	NM_206918.3(DEGS2):c.873C>T:p.His291=	coding	Benign
14	100149331	G	A	G100149331A	DEGS2	NM_206918.3(DEGS2):c.462C>T:p.Cys154=	coding	Benign
14	100239385	G	C	G100239385C	YY1	NM_003403.5(YY1):c.141G>C:p.Glu47Asp	coding	Benign
14	100239779	A	T	A100239779T	YY1	NM_003403.5(YY1):c.535A>T:p.Lys179Ter	coding	Pathogenic
14	100276616	C	T	C100276616T	YY1	NM_003403.5(YY1):c.1030C>T:p.Gln344Ter	coding	Pathogenic
14	100277451	C	G	C100277451G	YY1	NM_003403.5(YY1):c.1096C>G:p.Leu366Val	coding	Pathogenic
14	100277452	T	C	T100277452C	YY1	NM_003403.5(YY1):c.1097T>C:p.Leu366Pro	coding	Pathogenic
14	100277493	G	T	G100277493T	YY1	NM_003403.5(YY1):c.1138G>T:p.Asp380Tyr	coding	Pathogenic
14	100342570	T	C	T100342570C	WARS1	NM_004184.4(WARS1):c.941A>G:p.Asp314Gly	coding	Pathogenic
14	100346802	T	C	T100346802C	WARS1	NM_004184.4(WARS1):c.770A>G:p.His257Arg	coding	Pathogenic
14	100360563	A	T	A100360563T	WARS1	NM_004184.4(WARS1):c.413T>A:p.Phe138Tyr	coding	Pathogenic
14	100369161	G	C	G100369161C	WARS1	NM_004184.4(WARS1):c.25C>G:p.Leu9Val	coding	Benign
14	100538218	G	A	G100538218A	BEGAIN	NM_001159531.1(BEGAIN):c.1533C>T:p.Pro511=	coding	Benign
14	100539098	G	T	G100539098T	BEGAIN	NM_001159531.1(BEGAIN):c.653C>A:p.Pro218Gln	coding	Benign
14	100539225	C	T	C100539225T	BEGAIN	NM_001159531.1(BEGAIN):c.526G>A:p.Asp176Asn	coding	Benign
14	100728427	A	G	A100728427G	DLK1	NM_003836.6(DLK1):c.99A>G:p.Gln33=	coding	Benign
14	100729022	A	T	A100729022T	DLK1	NM_003836.6(DLK1):c.218A>T:p.Gln73Leu	coding	Benign
14	100732089	G	A	G100732089A	DLK1	NM_003836.6(DLK1):c.310G>A:p.Val104Met	coding	Benign
14	100734177	G	T	G100734177T	DLK1	NM_003836.6(DLK1):c.433G>T:p.Val145Leu	coding	Benign
14	100734347	C	T	C100734347T	DLK1	NM_003836.6(DLK1):c.603C>T:p.Ile201=	coding	Benign
14	100734584	G	A	G100734584A	DLK1	NM_003836.6(DLK1):c.840G>A:p.Pro280=	coding	Benign
14	100734869	C	T	C100734869T	DLK1	NM_003836.6(DLK1):c.1125C>T:p.Ser375=	coding	Benign
14	100734882	G	C	G100734882C	DLK1	NM_003836.6(DLK1):c.1138G>C:p.Asp380His	coding	Benign
14	100881018	C	T	C100881018T	RTL1	NM_001134888.2(RTL1):c.3771G>A:p.Gln1257=	coding	Benign
14	100881145	C	T	C100881145T	RTL1	NM_001134888.2(RTL1):c.3644G>A:p.Arg1215His	coding	Benign
14	100881228	C	T	C100881228T	RTL1	NM_001134888.2(RTL1):c.3561G>A:p.Gln1187=	coding	Benign
14	100881332	C	T	C100881332T	RTL1	NM_001134888.2(RTL1):c.3457G>A:p.Val1153Ile	coding	Benign
14	100881425	G	A	G100881425A	RTL1	NM_001134888.2(RTL1):c.3364C>T:p.Arg1122Cys	coding	Benign
14	100881488	C	G	C100881488G	RTL1	NM_001134888.2(RTL1):c.3301G>C:p.Val1101Leu	coding	Benign
14	101562327	C	T	C101562327T	DIO3	NM_001362.3(DIO3):c.831C>T:p.Pro277=	coding	Benign
14	101882276	C	T	C101882276T	PPP2R5C	NM_001161725.1(PPP2R5C):c.498+5C>T	noncoding	Benign
14	101883515	A	C	A101883515C	PPP2R5C	NM_001161725.1(PPP2R5C):c.675A>C:p.Leu225=	coding	Benign
14	101901715	G	C	G101901715C	PPP2R5C	NM_001161725.1(PPP2R5C):c.946-4G>C	noncoding	Benign
14	101906393	G	A	G101906393A	PPP2R5C	NM_001161725.1(PPP2R5C):c.1117-9G>A	noncoding	Benign
14	101964639	G	A	G101964639A	DYNC1H1	NM_001376.5(DYNC1H1):c.-53G>A	noncoding	Benign
14	101964687	A	G	A101964687G	DYNC1H1	NM_001376.5(DYNC1H1):c.-5A>G	noncoding	Benign
14	101964737	T	C	T101964737C	DYNC1H1	NM_001376.5(DYNC1H1):c.46T>C:p.Leu16=	coding	Benign
14	101964930	A	G	A101964930G	DYNC1H1	NM_001376.5(DYNC1H1):c.239A>G:p.Glu80Gly	coding	Benign
14	101964951	C	T	C101964951T	DYNC1H1	NM_001376.5(DYNC1H1):c.256+4C>T	noncoding	Benign/Likely_benign
14	101975692	A	G	A101975692G	DYNC1H1	NM_001376.5(DYNC1H1):c.257-20A>G	noncoding	Benign/Likely_benign
14	101975725	T	C	T101975725C	DYNC1H1	NM_001376.5(DYNC1H1):c.270T>C:p.Asp90=	coding	Benign
14	101975761	C	T	C101975761T	DYNC1H1	NM_001376.5(DYNC1H1):c.306C>T:p.Asn102=	coding	Benign/Likely_benign
14	101979270	T	C	T101979270C	DYNC1H1	NM_001376.5(DYNC1H1):c.345-49T>C	noncoding	Benign
14	101979309	T	G	T101979309G	DYNC1H1	NM_001376.5(DYNC1H1):c.345-10T>G	noncoding	Benign/Likely_benign
14	101979383	G	A	G101979383A	DYNC1H1	NM_001376.5(DYNC1H1):c.409G>A:p.Val137Ile	coding	Benign/Likely_benign
14	101979824	G	A	G101979824A	DYNC1H1	NM_001376.5(DYNC1H1):c.624G>A:p.Pro208=	coding	Benign
14	101979938	A	G	A101979938G	DYNC1H1	NM_001376.5(DYNC1H1):c.738A>G:p.Gln246=	coding	Benign
14	101980380	G	T	G101980380T	DYNC1H1	NM_001376.5(DYNC1H1):c.791G>T:p.Arg264Leu	coding	Pathogenic
14	101980463	C	T	C101980463T	DYNC1H1	NM_001376.5(DYNC1H1):c.874C>T:p.Arg292Trp	coding	Pathogenic
14	101980474	G	A	G101980474A	DYNC1H1	NM_001376.5(DYNC1H1):c.885G>A:p.Pro295=	coding	Benign/Likely_benign
14	101980506	A	G	A101980506G	DYNC1H1	NM_001376.5(DYNC1H1):c.917A>G:p.His306Arg	coding	Pathogenic
14	101982851	G	A	G101982851A	DYNC1H1	NM_001376.5(DYNC1H1):c.962-168G>A	noncoding	Benign
14	101983069	G	C	G101983069C	DYNC1H1	NM_001376.5(DYNC1H1):c.1012G>C:p.Asp338His	coding	Pathogenic
14	101985646	G	A	G101985646A	DYNC1H1	NM_001376.5(DYNC1H1):c.1462-41G>A	noncoding	Benign
14	101985812	C	T	C101985812T	DYNC1H1	NM_001376.5(DYNC1H1):c.1587C>T:p.Asn529=	coding	Benign
14	101985931	G	C	G101985931C	DYNC1H1	NM_001376.5(DYNC1H1):c.1706G>C:p.Arg569Pro	coding	Pathogenic
14	101985963	G	A	G101985963A	DYNC1H1	NM_001376.5(DYNC1H1):c.1738G>A:p.Glu580Lys	coding	Pathogenic
14	101986017	C	T	C101986017T	DYNC1H1	NM_001376.5(DYNC1H1):c.1792C>T:p.Arg598Cys	coding	Pathogenic/Likely_pathogenic
14	101986236	A	G	A101986236G	DYNC1H1	NM_001376.5(DYNC1H1):c.2011A>G:p.Lys671Glu	coding	Pathogenic
14	101986250	T	C	T101986250C	DYNC1H1	NM_001376.5(DYNC1H1):c.2025T>C:p.Asn675=	coding	Benign/Likely_benign
14	101986508	A	G	A101986508G	DYNC1H1	NM_001376.5(DYNC1H1):c.2283A>G:p.Pro761=	coding	Benign/Likely_benign
14	101986552	C	T	C101986552T	DYNC1H1	NM_001376.5(DYNC1H1):c.2327C>T:p.Pro776Leu	coding	Pathogenic
14	101986673	C	T	C101986673T	DYNC1H1	NM_001376.5(DYNC1H1):c.2448C>T:p.Ile816=	coding	Benign/Likely_benign
14	101986736	A	G	A101986736G	DYNC1H1	NM_001376.5(DYNC1H1):c.2511A>G:p.Ala837=	coding	Benign
14	101986773	C	T	C101986773T	DYNC1H1	NM_001376.5(DYNC1H1):c.2538+10C>T	noncoding	Benign
14	101986993	A	G	A101986993G	DYNC1H1	NM_001376.5(DYNC1H1):c.2538+230A>G	noncoding	Benign
14	101987066	A	G	A101987066G	DYNC1H1	NM_001376.5(DYNC1H1):c.2538+303A>G	noncoding	Benign
14	101987539	G	A	G101987539A	DYNC1H1	NM_001376.5(DYNC1H1):c.2625G>A:p.Ser875=	coding	Benign
14	101987778	A	G	A101987778G	DYNC1H1	NM_001376.5(DYNC1H1):c.2718+146A>G	noncoding	Benign
14	101988596	C	A	C101988596A	DYNC1H1	NM_001376.5(DYNC1H1):c.2719-107C>A	noncoding	Benign
14	101988697	C	T	C101988697T	DYNC1H1	NM_001376.5(DYNC1H1):c.2719-6C>T	noncoding	Benign/Likely_benign
14	101988705	T	C	T101988705C	DYNC1H1	NM_001376.5(DYNC1H1):c.2721T>C:p.Ile907=	coding	Benign/Likely_benign
14	101988889	G	C	G101988889C	DYNC1H1	NM_001376.5(DYNC1H1):c.2868+37G>C	noncoding	Benign
14	101991480	T	A	T101991480A	DYNC1H1	NM_001376.5(DYNC1H1):c.2869-47T>A	noncoding	Benign
14	101991567	A	G	A101991567G	DYNC1H1	NM_001376.5(DYNC1H1):c.2909A>G:p.Tyr970Cys	coding	Pathogenic
14	101991691	C	G	C101991691G	DYNC1H1	NM_001376.5(DYNC1H1):c.3015+18C>G	noncoding	Benign/Likely_benign
14	101991691	C	T	C101991691T	DYNC1H1	NM_001376.5(DYNC1H1):c.3015+18C>T	noncoding	Benign
14	101991956	T	C	T101991956C	DYNC1H1	NM_001376.5(DYNC1H1):c.3015+283T>C	noncoding	Benign
14	101994042	C	T	C101994042T	DYNC1H1	NM_001376.5(DYNC1H1):c.3016-142C>T	noncoding	Benign
14	101994794	T	C	T101994794C	DYNC1H1	NM_001376.5(DYNC1H1):c.3278T>C:p.Phe1093Ser	coding	Pathogenic
14	101994872	A	G	A101994872G	DYNC1H1	NM_001376.5(DYNC1H1):c.3333+23A>G	noncoding	Benign
14	101995022	C	T	C101995022T	DYNC1H1	NM_001376.5(DYNC1H1):c.3370C>T:p.His1124Tyr	coding	Pathogenic
14	101995231	T	C	T101995231C	DYNC1H1	NM_001376.5(DYNC1H1):c.3495T>C:p.Asp1165=	coding	Benign/Likely_benign
14	101996927	T	C	T101996927C	DYNC1H1	NM_001376.5(DYNC1H1):c.3565-108T>C	noncoding	Benign
14	101997070	A	G	A101997070G	DYNC1H1	NM_001376.5(DYNC1H1):c.3600A>G:p.Gln1200=	coding	Benign
14	101997073	G	T	G101997073T	DYNC1H1	NM_001376.5(DYNC1H1):c.3603G>T:p.Arg1201Ser	coding	Pathogenic
14	101997235	C	T	C101997235T	DYNC1H1	NM_001376.5(DYNC1H1):c.3765C>T:p.Thr1255=	coding	Benign
14	101997251	T	G	T101997251G	DYNC1H1	NM_001376.5(DYNC1H1):c.3781T>G:p.Trp1261Gly	coding	Pathogenic
14	101999841	A	G	A101999841G	DYNC1H1	NM_001376.5(DYNC1H1):c.3805-148A>G	noncoding	Benign
14	101999916	C	T	C101999916T	DYNC1H1	NM_001376.5(DYNC1H1):c.3805-73C>T	noncoding	Benign
14	102000093	G	A	G102000093A	DYNC1H1	NM_001376.5(DYNC1H1):c.3909G>A:p.Ala1303=	coding	Benign
14	102000160	G	A	G102000160A	DYNC1H1	NM_001376.5(DYNC1H1):c.3960+16G>A	noncoding	Benign
14	102000318	C	T	C102000318T	DYNC1H1	NM_001376.5(DYNC1H1):c.3993C>T:p.Gly1331=	coding	Benign
14	102000948	C	T	C102000948T	DYNC1H1	NM_001376.5(DYNC1H1):c.4075-6C>T	noncoding	Benign/Likely_benign
14	102001022	G	A	G102001022A	DYNC1H1	NM_001376.5(DYNC1H1):c.4143G>A:p.Ala1381=	coding	Benign/Likely_benign
14	102001084	C	T	C102001084T	DYNC1H1	NM_001376.5(DYNC1H1):c.4185+20C>T	noncoding	Benign
14	102001356	C	T	C102001356T	DYNC1H1	NM_001376.5(DYNC1H1):c.4395+2C>T	noncoding	Benign/Likely_benign
14	102001510	A	G	A102001510G	DYNC1H1	NM_001376.5(DYNC1H1):c.4396-25A>G	noncoding	Benign
14	102001648	C	T	C102001648T	DYNC1H1	NM_001376.5(DYNC1H1):c.4509C>T:p.Ser1503=	coding	Benign/Likely_benign
14	102001672	G	A	G102001672A	DYNC1H1	NM_001376.5(DYNC1H1):c.4533G>A:p.Pro1511=	coding	Benign
14	102002546	G	A	G102002546A	DYNC1H1	NM_001376.5(DYNC1H1):c.4552G>A:p.Glu1518Lys	coding	Pathogenic
14	102002694	G	A	G102002694A	DYNC1H1	NM_001376.5(DYNC1H1):c.4700G>A:p.Arg1567Gln	coding	Pathogenic
14	102002936	T	C	T102002936C	DYNC1H1	NM_001376.5(DYNC1H1):c.4854T>C:p.Tyr1618=	coding	Benign
14	102004425	G	C	G102004425C	DYNC1H1	NM_001376.5(DYNC1H1):c.4884-93G>C	noncoding	Benign
14	102004635	C	T	C102004635T	DYNC1H1	NM_001376.5(DYNC1H1):c.5001C>T:p.Asn1667=	coding	Benign/Likely_benign
14	102005098	A	G	A102005098G	DYNC1H1	NM_001376.5(DYNC1H1):c.5295A>G:p.Ala1765=	coding	Benign/Likely_benign
14	102005101	G	T	G102005101T	DYNC1H1	NM_001376.5(DYNC1H1):c.5298G>T:p.Leu1766=	coding	Benign/Likely_benign
14	102005113	C	T	C102005113T	DYNC1H1	NM_001376.5(DYNC1H1):c.5310C>T:p.Gly1770=	coding	Benign/Likely_benign
14	102005131	G	A	G102005131A	DYNC1H1	NM_001376.5(DYNC1H1):c.5328G>A:p.Ala1776=	coding	Benign
14	102007009	A	C	A102007009C	DYNC1H1	NM_001376.5(DYNC1H1):c.5718A>C:p.Gly1906=	coding	Benign/Likely_benign
14	102008244	C	T	C102008244T	DYNC1H1	NM_001376.5(DYNC1H1):c.5884C>T:p.Arg1962Cys	coding	Pathogenic
14	102008330	C	T	C102008330T	DYNC1H1	NM_001376.5(DYNC1H1):c.5970C>T:p.Tyr1990=	coding	Benign/Likely_benign
14	102008414	G	A	G102008414A	DYNC1H1	NM_001376.5(DYNC1H1):c.5977+77G>A	noncoding	Benign
14	102010099	G	T	G102010099T	DYNC1H1	NM_001376.5(DYNC1H1):c.6221+13G>T	noncoding	Benign
14	102011024	G	A	G102011024A	DYNC1H1	NM_001376.5(DYNC1H1):c.6618+72G>A	noncoding	Benign
14	102011707	G	A	G102011707A	DYNC1H1	NM_001376.5(DYNC1H1):c.6619-168G>A	noncoding	Benign
14	102011916	G	A	G102011916A	DYNC1H1	NM_001376.5(DYNC1H1):c.6660G>A:p.Leu2220=	coding	Benign
14	102012018	C	T	C102012018T	DYNC1H1	NM_001376.5(DYNC1H1):c.6762C>T:p.Ile2254=	coding	Benign/Likely_benign
14	102012051	C	T	C102012051T	DYNC1H1	NM_001376.5(DYNC1H1):c.6795C>T:p.Tyr2265=	coding	Benign/Likely_benign
14	102012360	G	A	G102012360A	DYNC1H1	NM_001376.5(DYNC1H1):c.6904G>A:p.Val2302Ile	coding	Benign
14	102012450	C	T	C102012450T	DYNC1H1	NM_001376.5(DYNC1H1):c.6994C>T:p.Arg2332Cys	coding	Pathogenic/Likely_pathogenic
14	102015227	G	A	G102015227A	DYNC1H1	NM_001376.5(DYNC1H1):c.7137G>A:p.Leu2379=	coding	Benign
14	102015242	C	T	C102015242T	DYNC1H1	NM_001376.5(DYNC1H1):c.7152C>T:p.Ser2384=	coding	Benign/Likely_benign
14	102015329	G	T	G102015329T	DYNC1H1	NM_001376.5(DYNC1H1):c.7239G>T:p.Leu2413=	coding	Benign/Likely_benign
14	102015903	C	T	C102015903T	DYNC1H1	NM_001376.5(DYNC1H1):c.7290C>T:p.Asn2430=	coding	Benign/Likely_benign
14	102016023	G	A	G102016023A	DYNC1H1	NM_001376.5(DYNC1H1):c.7410G>A:p.Ala2470=	coding	Benign/Likely_benign
14	102016032	C	T	C102016032T	DYNC1H1	NM_001376.5(DYNC1H1):c.7419C>T:p.Asn2473=	coding	Benign/Likely_benign
14	102016062	C	T	C102016062T	DYNC1H1	NM_001376.5(DYNC1H1):c.7449C>T:p.Ile2483=	coding	Benign
14	102016071	G	T	G102016071T	DYNC1H1	NM_001376.5(DYNC1H1):c.7458G>T:p.Leu2486=	coding	Benign/Likely_benign
14	102016076	G	A	G102016076A	DYNC1H1	NM_001376.5(DYNC1H1):c.7463G>A:p.Arg2488His	coding	Benign
14	102016399	A	G	A102016399G	DYNC1H1	NM_001376.5(DYNC1H1):c.7524A>G:p.Leu2508=	coding	Benign
14	102016462	G	A	G102016462A	DYNC1H1	NM_001376.5(DYNC1H1):c.7587G>A:p.Ala2529=	coding	Benign/Likely_benign
14	102016783	A	G	A102016783G	DYNC1H1	NM_001376.5(DYNC1H1):c.7632A>G:p.Glu2544=	coding	Benign
14	102018228	T	C	T102018228C	DYNC1H1	NM_001376.5(DYNC1H1):c.8178-223T>C	noncoding	Benign
14	102018577	G	A	G102018577A	DYNC1H1	NM_001376.5(DYNC1H1):c.8304G>A:p.Pro2768=	coding	Benign/Likely_benign
14	102019705	G	A	G102019705A	DYNC1H1	NM_001376.5(DYNC1H1):c.8344-188G>A	noncoding	Benign
14	102019863	G	A	G102019863A	DYNC1H1	NM_001376.5(DYNC1H1):c.8344-30G>A	noncoding	Benign
14	102026319	A	G	A102026319G	DYNC1H1	NM_001376.5(DYNC1H1):c.8638-255A>G	noncoding	Benign
14	102027186	A	G	A102027186G	DYNC1H1	NM_001376.5(DYNC1H1):c.8784A>G:p.Gln2928=	coding	Benign/Likely_benign
14	102027301	G	A	G102027301A	DYNC1H1	NM_001376.5(DYNC1H1):c.8886+13G>A	noncoding	Benign
14	102027424	A	G	A102027424G	DYNC1H1	NM_001376.5(DYNC1H1):c.8928A>G:p.Leu2976=	coding	Benign
14	102027662	C	T	C102027662T	DYNC1H1	NM_001376.5(DYNC1H1):c.9092C>T:p.Thr3031Met	coding	Pathogenic
14	102027929	T	G	T102027929G	DYNC1H1	NM_001376.5(DYNC1H1):c.9264-8T>G	noncoding	Benign/Likely_benign
14	102029519	A	T	A102029519T	DYNC1H1	NM_001376.5(DYNC1H1):c.9469-20A>T	noncoding	Benign
14	102029706	C	G	C102029706G	DYNC1H1	NM_001376.5(DYNC1H1):c.9636C>G:p.Val3212=	coding	Benign/Likely_benign
14	102029947	T	G	T102029947G	DYNC1H1	NM_001376.5(DYNC1H1):c.9762+9T>G	noncoding	Benign/Likely_benign
14	102030015	C	A	C102030015A	DYNC1H1	NM_001376.5(DYNC1H1):c.9762+77C>A	noncoding	Benign
14	102032396	G	T	G102032396T	DYNC1H1	NM_001376.5(DYNC1H1):c.10008G>T:p.Lys3336Asn	coding	Pathogenic
14	102032419	G	A	G102032419A	DYNC1H1	NM_001376.5(DYNC1H1):c.10031G>A:p.Arg3344Gln	coding	Pathogenic
14	102032421	G	A	G102032421A	DYNC1H1	NM_001376.5(DYNC1H1):c.10033G>A:p.Glu3345Lys	coding	Pathogenic
14	102032453	T	C	T102032453C	DYNC1H1	NM_001376.5(DYNC1H1):c.10065T>C:p.Ser3355=	coding	Benign/Likely_benign
14	102033136	G	A	G102033136A	DYNC1H1	NM_001376.5(DYNC1H1):c.10151G>A:p.Arg3384Gln	coding	Pathogenic
14	102033364	C	T	C102033364T	DYNC1H1	NM_001376.5(DYNC1H1):c.10293C>T:p.Asn3431=	coding	Benign/Likely_benign
14	102033419	G	A	G102033419A	DYNC1H1	NM_001376.5(DYNC1H1):c.10348G>A:p.Glu3450Lys	coding	Pathogenic
14	102033577	G	A	G102033577A	DYNC1H1	NM_001376.5(DYNC1H1):c.10413+93G>A	noncoding	Benign
14	102033982	C	T	C102033982T	DYNC1H1	NM_001376.5(DYNC1H1):c.10420C>T:p.Arg3474Trp	coding	Pathogenic
14	102034135	C	T	C102034135T	DYNC1H1	NM_001376.5(DYNC1H1):c.10573C>T:p.Arg3525Cys	coding	Pathogenic
14	102038501	C	T	C102038501T	DYNC1H1	NM_001376.5(DYNC1H1):c.10950C>T:p.Asn3650=	coding	Benign
14	102038543	C	T	C102038543T	DYNC1H1	NM_001376.5(DYNC1H1):c.10992C>T:p.Leu3664=	coding	Benign/Likely_benign
14	102038567	G	A	G102038567A	DYNC1H1	NM_001376.5(DYNC1H1):c.11016G>A:p.Ser3672=	coding	Benign/Likely_benign
14	102039194	G	A	G102039194A	DYNC1H1	NM_001376.5(DYNC1H1):c.11400G>A:p.Gln3800=	coding	Benign/Likely_benign
14	102039203	G	A	G102039203A	DYNC1H1	NM_001376.5(DYNC1H1):c.11409G>A:p.Pro3803=	coding	Benign
14	102039266	G	A	G102039266A	DYNC1H1	NM_001376.5(DYNC1H1):c.11460+12G>A	noncoding	Benign/Likely_benign
14	102039416	A	C	A102039416C	DYNC1H1	NM_001376.5(DYNC1H1):c.11465A>C:p.His3822Pro	coding	Pathogenic
14	102039483	G	A	G102039483A	DYNC1H1	NM_001376.5(DYNC1H1):c.11532G>A:p.Pro3844=	coding	Benign/Likely_benign
14	102039631	G	A	G102039631A	DYNC1H1	NM_001376.5(DYNC1H1):c.11596-7G>A	noncoding	Benign/Likely_benign
14	102039727	C	T	C102039727T	DYNC1H1	NM_001376.5(DYNC1H1):c.11685C>T:p.Thr3895=	coding	Benign
14	102039971	A	G	A102039971G	DYNC1H1	NM_001376.5(DYNC1H1):c.11690+239A>G	noncoding	Benign
14	102040232	G	T	G102040232T	DYNC1H1	NM_001376.5(DYNC1H1):c.11691-4G>T	noncoding	Benign/Likely_benign
14	102040310	C	T	C102040310T	DYNC1H1	NM_001376.5(DYNC1H1):c.11765C>T:p.Pro3922Leu	coding	Benign
14	102040728	G	C	G102040728C	DYNC1H1	NM_001376.5(DYNC1H1):c.11941+55G>C	noncoding	Benign
14	102041574	C	G	C102041574G	DYNC1H1	NM_001376.5(DYNC1H1):c.11942C>G:p.Thr3981Arg	coding	Benign/Likely_benign
14	102041719	C	A	C102041719A	DYNC1H1	NM_001376.5(DYNC1H1):c.12087C>A:p.His4029Gln	coding	Benign
14	102042069	A	T	A102042069T	DYNC1H1	NM_001376.5(DYNC1H1):c.12159A>T:p.Gly4053=	coding	Benign
14	102042102	G	T	G102042102T	DYNC1H1	NM_001376.5(DYNC1H1):c.12192G>T:p.Thr4064=	coding	Benign
14	102042271	C	T	C102042271T	DYNC1H1	NM_001376.5(DYNC1H1):c.12258C>T:p.Thr4086=	coding	Benign/Likely_benign
14	102042462	G	T	G102042462T	DYNC1H1	NM_001376.5(DYNC1H1):c.12354G>T:p.Pro4118=	coding	Benign/Likely_benign
14	102042758	T	G	T102042758G	DYNC1H1	NM_001376.5(DYNC1H1):c.12513+10T>G	noncoding	Benign/Likely_benign
14	102043616	G	C	G102043616C	DYNC1H1	NM_001376.5(DYNC1H1):c.12514-259G>C	noncoding	Benign
14	102043866	C	A	C102043866A	DYNC1H1	NM_001376.5(DYNC1H1):c.12514-9C>A	noncoding	Benign
14	102044059	A	G	A102044059G	DYNC1H1	NM_001376.5(DYNC1H1):c.12684+14A>G	noncoding	Benign
14	102044091	A	G	A102044091G	DYNC1H1	NM_001376.5(DYNC1H1):c.12684+46A>G	noncoding	Benign
14	102044271	C	T	C102044271T	DYNC1H1	NM_001376.5(DYNC1H1):c.12685-3C>T	noncoding	Benign/Likely_benign
14	102044363	C	T	C102044363T	DYNC1H1	NM_001376.5(DYNC1H1):c.12774C>T:p.Asn4258=	coding	Benign/Likely_benign
14	102044526	G	A	G102044526A	DYNC1H1	NM_001376.5(DYNC1H1):c.12902+35G>A	noncoding	Benign
14	102044537	G	A	G102044537A	DYNC1H1	NM_001376.5(DYNC1H1):c.12902+46G>A	noncoding	Benign
14	102044974	C	G	C102044974G	DYNC1H1	NM_001376.5(DYNC1H1):c.13006+276C>G	noncoding	Benign
14	102047872	C	T	C102047872T	DYNC1H1	NM_001376.5(DYNC1H1):c.13062C>T:p.Asp4354=	coding	Benign/Likely_benign
14	102047890	T	C	T102047890C	DYNC1H1	NM_001376.5(DYNC1H1):c.13080T>C:p.Thr4360=	coding	Benign
14	102048098	T	G	T102048098G	DYNC1H1	NM_001376.5(DYNC1H1):c.13218+70T>G	noncoding	Benign
14	102048376	G	A	G102048376A	DYNC1H1	NM_001376.5(DYNC1H1):c.13219-140G>A	noncoding	Benign
14	102048507	C	T	C102048507T	DYNC1H1	NM_001376.5(DYNC1H1):c.13219-9C>T	noncoding	Benign/Likely_benign
14	102048673	C	T	C102048673T	DYNC1H1	NM_001376.5(DYNC1H1):c.13372+4C>T	noncoding	Benign
14	102048678	G	A	G102048678A	DYNC1H1	NM_001376.5(DYNC1H1):c.13372+9G>A	noncoding	Benign
14	102048834	A	G	A102048834G	DYNC1H1	NM_001376.5(DYNC1H1):c.13372+165A>G	noncoding	Benign
14	102049167	G	C	G102049167C	DYNC1H1	NM_001376.5(DYNC1H1):c.13373-273G>C	noncoding	Benign
14	102049698	C	T	C102049698T	DYNC1H1	NM_001376.5(DYNC1H1):c.13516-16C>T	noncoding	Benign
14	102050093	G	A	G102050093A	DYNC1H1	NM_001376.5(DYNC1H1):c.13707G>A:p.Thr4569=	coding	Benign/Likely_benign
14	102050150	G	A	G102050150A	DYNC1H1	NM_001376.5(DYNC1H1):c.13764G>A:p.Thr4588=	coding	Benign/Likely_benign
14	102050753	A	G	A102050753G	DYNC1H1	NM_001376.5(DYNC1H1):c.*190A>G	noncoding	Benign
14	102050795	C	T	C102050795T	DYNC1H1	NM_001376.5(DYNC1H1):c.*232C>T	noncoding	Benign
14	102082104	G	T	G102082104T	HSP90AA1	NM_005348.4(HSP90AA1):c.2089+7C>A	noncoding	Benign
14	102082121	T	C	T102082121C	HSP90AA1	NM_005348.4(HSP90AA1):c.2079A>G:p.Lys693=	coding	Benign
14	102083784	T	C	T102083784C	HSP90AA1	NM_005348.4(HSP90AA1):c.1338+9A>G	noncoding	Benign
14	102083847	C	T	C102083847T	HSP90AA1	NM_005348.4(HSP90AA1):c.1284G>A:p.Ala428=	coding	Benign
14	102251756	C	G	C102251756G	MOK	NM_014226.3(MOK):c.411G>C:p.Lys137Asn	coding	Benign
14	102339200	G	A	G102339200A	ZNF839	NM_018335.5(ZNF839):c.1904G>A:p.Arg635Lys	coding	Benign
14	102376702	A	C	A102376702C	TECPR2	NM_014844.5(TECPR2):c.-20A>C	noncoding	Benign
14	102376720	C	T	C102376720T	TECPR2	NM_014844.5(TECPR2):c.-2C>T	noncoding	Benign
14	102408863	A	G	A102408863G	TECPR2	NM_014844.5(TECPR2):c.480+244A>G	noncoding	Benign
14	102414986	T	G	T102414986G	TECPR2	NM_014844.5(TECPR2):c.638+193T>G	noncoding	Benign
14	102425102	G	A	G102425102A	TECPR2	NM_014844.5(TECPR2):c.762G>A:p.Thr254=	coding	Benign
14	102425309	A	G	A102425309G	TECPR2	NM_014844.5(TECPR2):c.951+18A>G	noncoding	Benign
14	102428011	T	C	T102428011C	TECPR2	NM_014844.5(TECPR2):c.952-239T>C	noncoding	Benign
14	102428256	G	A	G102428256A	TECPR2	NM_014844.5(TECPR2):c.958G>A:p.Val320Ile	coding	Benign
14	102431585	G	A	G102431585A	TECPR2	NM_014844.5(TECPR2):c.1085-211G>A	noncoding	Benign
14	102431633	T	C	T102431633C	TECPR2	NM_014844.5(TECPR2):c.1085-163T>C	noncoding	Benign
14	102431851	G	A	G102431851A	TECPR2	NM_014844.5(TECPR2):c.1140G>A:p.Ala380=	coding	Benign
14	102431867	G	A	G102431867A	TECPR2	NM_014844.5(TECPR2):c.1156G>A:p.Ala386Thr	coding	Benign
14	102431971	C	T	C102431971T	TECPR2	NM_014844.5(TECPR2):c.1260C>T:p.Ser420=	coding	Benign/Likely_benign
14	102432026	C	T	C102432026T	TECPR2	NM_014844.5(TECPR2):c.1315C>T:p.Pro439Ser	coding	Benign
14	102433999	C	T	C102433999T	TECPR2	NM_014844.5(TECPR2):c.1418-236C>T	noncoding	Benign
14	102434070	G	A	G102434070A	TECPR2	NM_014844.5(TECPR2):c.1418-165G>A	noncoding	Benign
14	102434287	C	T	C102434287T	TECPR2	NM_014844.5(TECPR2):c.1470C>T:p.Ser490=	coding	Benign/Likely_benign
14	102434422	C	T	C102434422T	TECPR2	NM_014844.5(TECPR2):c.1605C>T:p.Asn535=	coding	Benign
14	102434431	A	G	A102434431G	TECPR2	NM_014844.5(TECPR2):c.1614A>G:p.Pro538=	coding	Benign
14	102434606	C	T	C102434606T	TECPR2	NM_014844.5(TECPR2):c.1789C>T:p.Leu597Phe	coding	Benign/Likely_benign
14	102434619	C	T	C102434619T	TECPR2	NM_014844.5(TECPR2):c.1802C>T:p.Pro601Leu	coding	Benign
14	102434686	G	A	G102434686A	TECPR2	NM_014844.5(TECPR2):c.1869G>A:p.Gly623=	coding	Benign
14	102434864	A	G	A102434864G	TECPR2	NM_014844.5(TECPR2):c.2047A>G:p.Ile683Val	coding	Benign
14	102434867	C	G	C102434867G	TECPR2	NM_014844.5(TECPR2):c.2050C>G:p.Leu684Val	coding	Benign
14	102435016	C	T	C102435016T	TECPR2	NM_014844.5(TECPR2):c.2199C>T:p.Ala733=	coding	Benign
14	102435097	C	T	C102435097T	TECPR2	NM_014844.5(TECPR2):c.2280C>T:p.His760=	coding	Benign
14	102438076	G	A	G102438076A	TECPR2	NM_014844.5(TECPR2):c.2449G>A:p.Val817Met	coding	Benign
14	102440198	G	T	G102440198T	TECPR2	NM_014844.5(TECPR2):c.2579-238G>T	noncoding	Benign
14	102440700	G	A	G102440700A	TECPR2	NM_014844.5(TECPR2):c.2752+91G>A	noncoding	Benign
14	102443654	C	T	C102443654T	TECPR2	NM_014844.5(TECPR2):c.2760C>T:p.Ser920=	coding	Benign
14	102444086	A	G	A102444086G	TECPR2	NM_014844.5(TECPR2):c.2933+259A>G	noncoding	Benign
14	102445576	T	C	T102445576C	TECPR2	NM_014844.5(TECPR2):c.2934-230T>C	noncoding	Benign
14	102445811	G	C	G102445811C	TECPR2	NM_014844.5(TECPR2):c.2939G>C:p.Arg980Thr	coding	Benign
14	102445813	C	A	C102445813A	TECPR2	NM_014844.5(TECPR2):c.2941C>A:p.Gln981Lys	coding	Benign
14	102445944	G	A	G102445944A	TECPR2	NM_014844.5(TECPR2):c.3072G>A:p.Trp1024Ter	coding	Pathogenic
14	102445965	C	T	C102445965T	TECPR2	NM_014844.5(TECPR2):c.3075+18C>T	noncoding	Benign
14	102446054	C	T	C102446054T	TECPR2	NM_014844.5(TECPR2):c.3075+107C>T	noncoding	Benign
14	102446057	A	G	A102446057G	TECPR2	NM_014844.5(TECPR2):c.3075+110A>G	noncoding	Benign
14	102449567	G	A	G102449567A	TECPR2	NM_014844.5(TECPR2):c.3076-62G>A	noncoding	Benign
14	102449661	G	A	G102449661A	TECPR2	NM_014844.5(TECPR2):c.3108G>A:p.Gln1036=	coding	Benign
14	102449664	C	T	C102449664T	TECPR2	NM_014844.5(TECPR2):c.3111C>T:p.Cys1037=	coding	Benign
14	102449835	G	A	G102449835A	TECPR2	NM_014844.5(TECPR2):c.3282G>A:p.Lys1094=	coding	Benign
14	102449981	T	C	T102449981C	TECPR2	NM_014844.5(TECPR2):c.3316+112T>C	noncoding	Benign
14	102452452	C	A	C102452452A	TECPR2	NM_014844.5(TECPR2):c.3465C>A:p.Ser1155Arg	coding	Benign
14	102452461	G	T	G102452461T	TECPR2	NM_014844.5(TECPR2):c.3474G>T:p.Ser1158=	coding	Benign
14	102452464	G	A	G102452464A	TECPR2	NM_014844.5(TECPR2):c.3477G>A:p.Arg1159=	coding	Benign
14	102452710	C	T	C102452710T	TECPR2	NM_014844.5(TECPR2):c.3640+83C>T	noncoding	Benign
14	102465023	A	G	A102465023G	TECPR2	NM_014844.5(TECPR2):c.3641-118A>G	noncoding	Benign
14	102496791	T	C	T102496791C	TECPR2	NM_014844.5(TECPR2):c.3790-188T>C	noncoding	Benign
14	102496961	G	C	G102496961C	TECPR2	NM_014844.5(TECPR2):c.3790-18G>C	noncoding	Benign
14	102497671	G	A	G102497671A	TECPR2	NM_014844.5(TECPR2):c.4033G>A:p.Ala1345Thr	coding	Benign
14	102498110	G	A	G102498110A	TECPR2	NM_014844.5(TECPR2):c.4089G>A:p.Ala1363=	coding	Benign/Likely_benign
14	102701339	A	G	A102701339G	RCOR1	NM_015156.4(RCOR1):c.498+9A>G	noncoding	Benign
14	102870390	G	A	G102870390A	TRAF3	NM_003300.4(TRAF3):c.189G>A:p.Pro63=	coding	Benign
14	102891320	C	T	C102891320T	TRAF3	NM_003300.4(TRAF3):c.727-5C>T	noncoding	Benign
14	102903386	G	A	G102903386A	TRAF3	NM_145725.3(TRAF3):c.1092G>A:p.Leu364=	coding	Benign
14	102903404	C	T	C102903404T	TRAF3	NM_003300.4(TRAF3):c.1110C>T:p.Ser370=	coding	Benign
14	102905373	C	T	C102905373T	TRAF3	NM_145725.3(TRAF3):c.1296C>T:p.Ala432=	coding	Benign
14	102905586	C	T	C102905586T	TRAF3	NM_003300.4(TRAF3):c.1509C>T:p.Ser503=	coding	Benign
14	102905766	G	A	G102905766A	TRAF3	NM_145725.3(TRAF3):c.1689G>A:p.Ser563=	coding	Benign
14	102923760	C	T	C102923760T	AMN	NM_030943.4(AMN):c.93C>T:p.Asp31=	coding	Benign
14	102923789	C	T	C102923789T	AMN	NM_030943.3(AMN):c.122C>T:p.Thr41Ile	coding	Pathogenic
14	102923937	G	A	G102923937A	AMN	NM_030943.3(AMN):c.165G>A:p.Met55Ile	coding	Benign/Likely_benign
14	102923978	T	A	T102923978A	AMN	NM_030943.4(AMN):c.206T>A:p.Met69Lys	coding	Pathogenic
14	102928416	T	C	T102928416C	AMN	NM_030943.4(AMN):c.208-10T>C	noncoding	Benign
14	102928424	A	G	A102928424G	AMN	NM_030943.4(AMN):c.208-2A>G	noncoding	Pathogenic/Likely_pathogenic
14	102928749	C	T	C102928749T	AMN	NM_030943.3(AMN):c.296-9C>T	noncoding	Benign
14	102928783	T	C	T102928783C	AMN	NM_030943.4(AMN):c.321T>C:p.Ser107=	coding	Benign
14	102928786	C	T	C102928786T	AMN	NM_030943.4(AMN):c.324C>T:p.Asp108=	coding	Benign
14	102928825	G	A	G102928825A	AMN	NM_030943.3(AMN):c.363G>A:p.Gly121=	coding	Benign
14	102929723	A	G	A102929723G	AMN	NM_030943.3(AMN):c.829A>G:p.Thr277Ala	coding	Benign
14	102929989	C	T	C102929989T	AMN	NM_030943.4(AMN):c.909C>T:p.Ala303=	coding	Benign
14	102930369	C	G	C102930369G	AMN	NM_030943.3(AMN):c.1170-37C>G	noncoding	Benign
14	102938302	G	T	G102938302T	CDC42BPB	NM_006035.4(CDC42BPB):c.4933+4C>A	noncoding	Benign
14	102939832	C	T	C102939832T	CDC42BPB	NM_006035.4(CDC42BPB):c.4707G>A:p.Arg1569=	coding	Benign
14	102950502	C	T	C102950502T	CDC42BPB	NM_006035.4(CDC42BPB):c.3273G>A:p.Gln1091=	coding	Benign
14	102968648	G	A	G102968648A	CDC42BPB	NM_006035.4(CDC42BPB):c.2064C>T:p.Ser688=	coding	Benign
14	102980920	A	G	A102980920G	CDC42BPB	NM_006035.4(CDC42BPB):c.993T>C:p.Asn331=	coding	Benign
14	102980955	G	A	G102980955A	CDC42BPB	NM_006035.4(CDC42BPB):c.958C>T:p.Leu320=	coding	Benign
14	102999711	G	A	G102999711A	CDC42BPB	NM_006035.4(CDC42BPB):c.450C>T:p.Tyr150=	coding	Benign
14	103126556	G	A	G103126556A	TNFAIP2	NM_006291.4(TNFAIP2):c.99G>A:p.Lys33=	coding	Benign
14	103126688	C	A	C103126688A	TNFAIP2	NM_006291.4(TNFAIP2):c.231C>A:p.Pro77=	coding	Benign
14	103132800	C	G	C103132800G	TNFAIP2	NM_006291.4(TNFAIP2):c.1473C>G:p.Thr491=	coding	Benign
14	103133719	C	T	C103133719T	TNFAIP2	NM_006291.4(TNFAIP2):c.1739C>T:p.Thr580Met	coding	Benign
14	103339164	C	T	C103339164T	EIF5	NM_001969.5(EIF5):c.745-8C>T	noncoding	Benign
14	103491898	C	G	C103491898G	MARK3	NM_001128918.3(MARK3):c.1708C>G:p.Arg570Gly	coding	Pathogenic
14	103562952	G	T	G103562952T	COA8	NM_032374.4(COA8):c.-11G>T	noncoding	Benign
14	103563009	T	C	T103563009C	COA8	NM_001370595.1(COA8):c.8T>C:p.Val3Ala	coding	Benign
14	103563024	A	G	A103563024G	COA8	NM_001370595.1(COA8):c.23A>G:p.Lys8Arg	coding	Benign
14	103563041	C	G	C103563041G	COA8	NM_001370595.1(COA8):c.40C>G:p.Pro14Ala	coding	Benign
14	103563042	C	G	C103563042G	COA8	NM_001370595.1(COA8):c.41C>G:p.Pro14Arg	coding	Benign
14	103563112	G	A	G103563112A	COA8	NM_001370595.1(COA8):c.111G>A:p.Thr37=	coding	Benign
14	103571622	G	A	G103571622A	COA8	NM_001370595.2(COA8):c.124-1G>A	noncoding	Pathogenic
14	103571695	C	T	C103571695T	COA8	NM_001302652.2(COA8):c.196C>T:p.Arg66Ter	coding	Pathogenic
14	103571723	A	G	A103571723G	COA8	NM_001370595.1(COA8):c.224A>G:p.Asn75Ser	coding	Benign/Likely_benign
14	103574136	A	G	A103574136G	COA8	NM_001370595.1(COA8):c.351A>G:p.Leu117=	coding	Benign
14	103662760	C	T	C103662760T	KLC1	NM_001130107.1(KLC1):c.630C>T:p.Pro210=	coding	Benign
14	103699410	C	T	C103699410T	XRCC3	NM_005432.4(XRCC3):c.728G>A:p.Arg243His	coding	Benign
14	103703179	G	A	G103703179A	XRCC3	NM_005432.4(XRCC3):c.555C>T:p.Ala185=	coding	Benign
14	103737845	G	A	G103737845A	PPP1R13B	NM_015316.3(PPP1R13B):c.2880C>T:p.Cys960=	coding	Benign
14	103738753	G	A	G103738753A	PPP1R13B	NM_015316.3(PPP1R13B):c.2790C>T:p.Cys930=	coding	Benign
14	103739885	C	T	C103739885T	PPP1R13B	NM_015316.3(PPP1R13B):c.2531G>A:p.Gly844Glu	coding	Benign
14	103740262	G	A	G103740262A	PPP1R13B	NM_015316.3(PPP1R13B):c.2154C>T:p.Gly718=	coding	Benign
14	103740532	G	A	G103740532A	PPP1R13B	NM_015316.3(PPP1R13B):c.1884C>T:p.His628=	coding	Benign
14	103741949	G	T	G103741949T	PPP1R13B	NM_015316.3(PPP1R13B):c.1663C>A:p.Pro555Thr	coding	Benign
14	103741953	A	G	A103741953G	PPP1R13B	NM_015316.3(PPP1R13B):c.1659T>C:p.Ile553=	coding	Benign
14	103754193	T	C	T103754193C	PPP1R13B	NM_015316.3(PPP1R13B):c.508A>G:p.Ile170Val	coding	Benign
14	103784857	C	T	C103784857T	PPP1R13B	NM_015316.3(PPP1R13B):c.215G>A:p.Arg72Gln	coding	Benign
14	103963069	C	T	C103963069T	TDRD9	NM_153046.3(TDRD9):c.323-10C>T	noncoding	Benign
14	103963088	C	T	C103963088T	TDRD9	NM_153046.3(TDRD9):c.332C>T:p.Pro111Leu	coding	Benign
14	103966760	A	G	A103966760G	TDRD9	NM_153046.3(TDRD9):c.694A>G:p.Thr232Ala	coding	Benign
14	104006791	G	A	G104006791A	TDRD9	NM_153046.3(TDRD9):c.1953G>A:p.Val651=	coding	Benign
14	104025653	G	C	G104025653C	TDRD9	NM_153046.3(TDRD9):c.2808G>C:p.Leu936=	coding	Benign
14	104026834	C	T	C104026834T	TDRD9	NM_153046.3(TDRD9):c.3177C>T:p.His1059=	coding	Benign
14	104032091	T	C	T104032091C	TDRD9	NM_153046.3(TDRD9):c.3509+4T>C	noncoding	Benign
14	104042151	C	T	C104042151T	TDRD9	NM_153046.3(TDRD9):c.3938C>T:p.Ala1313Val	coding	Benign
14	104103591	C	T	C104103591T	ASPG	NM_001080464.3(ASPG):c.669C>T:p.Asp223=	coding	Benign
14	104176430	G	A	G104176430A	KIF26A	NM_015656.1(KIF26A):c.3642G>A:p.Pro1214=	coding	Benign
14	104689664	G	A	G104689664A	INF2	NM_022489.4(INF2):c.-85G>A	noncoding	Benign
14	104701407	G	A	G104701407A	INF2	NM_022489.4(INF2):c.42G>A:p.Leu14=	coding	Benign
14	104701470	C	T	C104701470T	INF2	NM_022489.4(INF2):c.105C>T:p.Pro35=	coding	Benign
14	104701490	T	C	T104701490C	INF2	NM_022489.4(INF2):c.125T>C:p.Leu42Pro	coding	Pathogenic
14	104701509	C	T	C104701509T	INF2	NM_022489.4(INF2):c.144C>T:p.Val48=	coding	Benign
14	104701535	T	C	T104701535C	INF2	NM_022489.4(INF2):c.170T>C:p.Leu57Pro	coding	Pathogenic
14	104701582	G	A	G104701582A	INF2	NM_022489.4(INF2):c.217G>A:p.Gly73Ser	coding	Pathogenic
14	104701619	C	G	C104701619G	INF2	NM_022489.4(INF2):c.254C>G:p.Ser85Trp	coding	Pathogenic
14	104701629	C	T	C104701629T	INF2	NM_022489.4(INF2):c.264C>T:p.Gly88=	coding	Benign
14	104701675	T	C	T104701675C	INF2	NM_022489.4(INF2):c.310T>C:p.Cys104Arg	coding	Pathogenic
14	104701676	G	T	G104701676T	INF2	NM_022489.4(INF2):c.311G>T:p.Cys104Phe	coding	Pathogenic
14	104701677	C	G	C104701677G	INF2	NM_022489.4(INF2):c.312C>G:p.Cys104Trp	coding	Pathogenic
14	104701762	C	T	C104701762T	INF2	NM_022489.4(INF2):c.391+6C>T	noncoding	Benign
14	104701773	G	A	G104701773A	INF2	NM_022489.4(INF2):c.391+17G>A	noncoding	Benign
14	104701774	A	T	A104701774T	INF2	NM_022489.4(INF2):c.391+18A>T	noncoding	Benign
14	104702077	C	T	C104702077T	INF2	NM_022489.4(INF2):c.391+321C>T	noncoding	Benign
14	104703108	T	G	T104703108G	INF2	NM_022489.4(INF2):c.395T>G:p.Leu132Arg	coding	Pathogenic
14	104703187	C	T	C104703187T	INF2	NM_022489.4(INF2):c.474C>T:p.His158=	coding	Benign/Likely_benign
14	104703227	G	A	G104703227A	INF2	NM_022489.4(INF2):c.507+7G>A	noncoding	Benign/Likely_benign
14	104703297	G	A	G104703297A	INF2	NM_022489.4(INF2):c.510G>A:p.Thr170=	coding	Benign/Likely_benign
14	104703317	G	A	G104703317A	INF2	NM_022489.4(INF2):c.530G>A:p.Arg177His	coding	Pathogenic/Likely_pathogenic
14	104703337	G	A	G104703337A	INF2	NM_022489.4(INF2):c.550G>A:p.Glu184Lys	coding	Pathogenic
14	104703343	T	C	T104703343C	INF2	NM_022489.4(INF2):c.556T>C:p.Ser186Pro	coding	Pathogenic
14	104703345	C	T	C104703345T	INF2	NM_022489.4(INF2):c.558C>T:p.Ser186=	coding	Benign/Likely_benign
14	104703396	C	T	C104703396T	INF2	NM_022489.4(INF2):c.609C>T:p.Ala203=	coding	Benign/Likely_benign
14	104703428	G	A	G104703428A	INF2	NM_022489.4(INF2):c.641G>A:p.Arg214His	coding	Pathogenic
14	104703438	G	A	G104703438A	INF2	NM_022489.4(INF2):c.651G>A:p.Leu217=	coding	Benign
14	104703439	C	T	C104703439T	INF2	NM_022489.4(INF2):c.652C>T:p.Arg218Trp	coding	Pathogenic
14	104703440	G	A	G104703440A	INF2	NM_022489.4(INF2):c.653G>A:p.Arg218Gln	coding	Pathogenic
14	104703445	G	A	G104703445A	INF2	NM_022489.4(INF2):c.658G>A:p.Glu220Lys	coding	Pathogenic/Likely_pathogenic
14	104703884	C	T	C104703884T	INF2	NM_022489.4(INF2):c.668-32C>T	noncoding	Benign
14	104705978	G	A	G104705978A	INF2	NM_022489.4(INF2):c.702-57G>A	noncoding	Benign
14	104706192	C	T	C104706192T	INF2	NM_022489.4(INF2):c.843+16C>T	noncoding	Benign
14	104706945	G	A	G104706945A	INF2	NM_022489.4(INF2):c.879G>A:p.Ser293=	coding	Benign
14	104707117	G	A	G104707117A	INF2	NM_022489.4(INF2):c.985+66G>A	noncoding	Benign
14	104707316	C	T	C104707316T	INF2	NM_022489.4(INF2):c.1049C>T:p.Pro350Leu	coding	Benign/Likely_benign
14	104707345	G	A	G104707345A	INF2	NM_022489.4(INF2):c.1078G>A:p.Val360Ile	coding	Benign
14	104707411	A	G	A104707411G	INF2	NM_022489.4(INF2):c.1144A>G:p.Ser382Gly	coding	Benign
14	104707494	G	T	G104707494T	INF2	NM_022489.4(INF2):c.1227G>T:p.Ser409=	coding	Benign
14	104707530	A	C	A104707530C	INF2	NM_022489.4(INF2):c.1263A>C:p.Pro421=	coding	Benign
14	104707536	A	C	A104707536C	INF2	NM_022489.4(INF2):c.1269A>C:p.Pro423=	coding	Benign
14	104707541	C	T	C104707541T	INF2	NM_022489.4(INF2):c.1274C>T:p.Pro425Leu	coding	Benign
14	104707542	A	C	A104707542C	INF2	NM_022489.4(INF2):c.1275A>C:p.Pro425=	coding	Benign
14	104707596	A	C	A104707596C	INF2	NM_022489.4(INF2):c.1329A>C:p.Pro443=	coding	Benign
14	104707639	C	T	C104707639T	INF2	NM_022489.4(INF2):c.1372C>T:p.Pro458Ser	coding	Benign/Likely_benign
14	104707718	G	A	G104707718A	INF2	NM_022489.4(INF2):c.1451G>A:p.Cys484Tyr	coding	Benign
14	104707719	T	C	T104707719C	INF2	NM_022489.4(INF2):c.1452T>C:p.Cys484=	coding	Benign
14	104707766	C	T	C104707766T	INF2	NM_022489.4(INF2):c.1499C>T:p.Pro500Leu	coding	Benign/Likely_benign
14	104707814	C	T	C104707814T	INF2	NM_022489.4(INF2):c.1547C>T:p.Pro516Leu	coding	Benign
14	104707849	C	T	C104707849T	INF2	NM_022489.4(INF2):c.1582C>T:p.Pro528Ser	coding	Benign
14	104707854	C	T	C104707854T	INF2	NM_022489.4(INF2):c.1587C>T:p.Pro529=	coding	Benign
14	104707914	A	G	A104707914G	INF2	NM_022489.4(INF2):c.1647A>G:p.Ala549=	coding	Benign
14	104707999	C	T	C104707999T	INF2	NM_022489.4(INF2):c.1732C>T:p.Arg578Cys	coding	Benign
14	104708261	C	T	C104708261T	INF2	NM_022489.4(INF2):c.1736-175C>T	noncoding	Benign
14	104708385	G	A	G104708385A	INF2	NM_022489.4(INF2):c.1736-51G>A	noncoding	Benign
14	104708455	G	A	G104708455A	INF2	NM_022489.4(INF2):c.1755G>A:p.Ala585=	coding	Benign/Likely_benign
14	104708470	C	T	C104708470T	INF2	NM_022489.4(INF2):c.1770C>T:p.Pro590=	coding	Benign/Likely_benign
14	104708473	C	T	C104708473T	INF2	NM_022489.4(INF2):c.1773C>T:p.Asp591=	coding	Benign/Likely_benign
14	104708506	C	T	C104708506T	INF2	NM_022489.4(INF2):c.1806C>T:p.Ile602=	coding	Benign
14	104708565	G	A	G104708565A	INF2	NM_022489.4(INF2):c.1865G>A:p.Arg622Gln	coding	Benign
14	104708748	A	G	A104708748G	INF2	NM_022489.4(INF2):c.1949+16A>G	noncoding	Benign
14	104709050	C	T	C104709050T	INF2	NM_022489.4(INF2):c.1950-231C>T	noncoding	Benign
14	104709271	C	T	C104709271T	INF2	NM_022489.4(INF2):c.1950-10C>T	noncoding	Benign/Likely_benign
14	104709309	C	T	C104709309T	INF2	NM_022489.4(INF2):c.1978C>T:p.Arg660Trp	coding	Benign/Likely_benign
14	104709714	G	A	G104709714A	INF2	NM_022489.4(INF2):c.2138+9G>A	noncoding	Benign
14	104710444	G	A	G104710444A	INF2	NM_022489.4(INF2):c.2239+256G>A	noncoding	Benign
14	104711090	C	T	C104711090T	INF2	NM_022489.4(INF2):c.2322C>T:p.Thr774=	coding	Benign
14	104711643	C	T	C104711643T	INF2	NM_022489.4(INF2):c.2433C>T:p.Ser811=	coding	Benign
14	104711668	C	T	C104711668T	INF2	NM_022489.4(INF2):c.2458C>T:p.Arg820Trp	coding	Benign/Likely_benign
14	104711689	C	A	C104711689A	INF2	NM_022489.4(INF2):c.2479C>A:p.Gln827Lys	coding	Benign
14	104711752	T	C	T104711752C	INF2	NM_022489.4(INF2):c.2489+53T>C	noncoding	Benign
14	104711761	G	C	G104711761C	INF2	NM_022489.4(INF2):c.2489+62G>C	noncoding	Benign
14	104711816	C	T	C104711816T	INF2	NM_022489.4(INF2):c.2489+117C>T	noncoding	Benign
14	104712141	T	C	T104712141C	INF2	NM_022489.4(INF2):c.2490-292T>C	noncoding	Benign
14	104712450	T	C	T104712450C	INF2	NM_022489.4(INF2):c.2507T>C:p.Ile836Thr	coding	Benign
14	104712452	C	T	C104712452T	INF2	NM_022489.4(INF2):c.2509C>T:p.Arg837Cys	coding	Benign/Likely_benign
14	104712460	G	A	G104712460A	INF2	NM_022489.4(INF2):c.2517G>A:p.Glu839=	coding	Benign
14	104712499	G	A	G104712499A	INF2	NM_022489.4(INF2):c.2556G>A:p.Arg852=	coding	Benign
14	104712514	C	T	C104712514T	INF2	NM_022489.4(INF2):c.2571C>T:p.Ser857=	coding	Benign
14	104712706	G	C	G104712706C	INF2	NM_022489.4(INF2):c.2611-122G>C	noncoding	Benign
14	104712744	G	A	G104712744A	INF2	NM_022489.4(INF2):c.2611-84G>A	noncoding	Benign
14	104712842	C	G	C104712842G	INF2	NM_022489.4(INF2):c.2625C>G:p.Ala875=	coding	Benign
14	104712847	G	A	G104712847A	INF2	NM_022489.4(INF2):c.2630G>A:p.Arg877Gln	coding	Benign
14	104712857	T	C	T104712857C	INF2	NM_022489.4(INF2):c.2640T>C:p.Asp880=	coding	Benign
14	104713007	C	T	C104713007T	INF2	NM_022489.4(INF2):c.2775+15C>T	noncoding	Benign
14	104713279	C	T	C104713279T	INF2	NM_022489.4(INF2):c.2848C>T:p.Arg950Trp	coding	Benign
14	104713565	G	A	G104713565A	INF2	NM_022489.4(INF2):c.2999G>A:p.Ser1000Asn	coding	Benign/Likely_benign
14	104714057	C	G	C104714057G	INF2	NM_022489.4(INF2):c.3041-146C>G	noncoding	Benign
14	104714128	G	A	G104714128A	INF2	NM_022489.4(INF2):c.3041-75G>A	noncoding	Benign
14	104714147	C	T	C104714147T	INF2	NM_022489.4(INF2):c.3041-56C>T	noncoding	Benign
14	104714228	T	C	T104714228C	INF2	NM_022489.4(INF2):c.3066T>C:p.Asp1022=	coding	Benign
14	104714231	C	T	C104714231T	INF2	NM_022489.4(INF2):c.3069C>T:p.Pro1023=	coding	Benign/Likely_benign
14	104714240	C	T	C104714240T	INF2	NM_022489.4(INF2):c.3078C>T:p.Ser1026=	coding	Benign
14	104714270	T	C	T104714270C	INF2	NM_022489.4(INF2):c.3108T>C:p.Leu1036=	coding	Benign
14	104714296	G	A	G104714296A	INF2	NM_022489.4(INF2):c.3134G>A:p.Arg1045Gln	coding	Benign/Likely_benign
14	104714315	C	T	C104714315T	INF2	NM_022489.4(INF2):c.3153C>T:p.Asp1051=	coding	Benign
14	104714369	A	C	A104714369C	INF2	NM_022489.4(INF2):c.3207A>C:p.Pro1069=	coding	Benign
14	104714369	A	G	A104714369G	INF2	NM_022489.4(INF2):c.3207A>G:p.Pro1069=	coding	Benign
14	104714406	G	T	G104714406T	INF2	NM_022489.4(INF2):c.3244G>T:p.Ala1082Ser	coding	Benign
14	104714448	C	T	C104714448T	INF2	NM_022489.4(INF2):c.3286C>T:p.Pro1096Ser	coding	Benign
14	104714566	C	T	C104714566T	INF2	NM_022489.4(INF2):c.3404C>T:p.Thr1135Met	coding	Benign
14	104714640	G	A	G104714640A	INF2	NM_022489.4(INF2):c.3478G>A:p.Gly1160Ser	coding	Benign
14	104714747	G	A	G104714747A	INF2	NM_022489.4(INF2):c.3585G>A:p.Glu1195=	coding	Benign
14	104714774	G	A	G104714774A	INF2	NM_022489.4(INF2):c.3612G>A:p.Ser1204=	coding	Benign
14	104714846	G	A	G104714846A	INF2	NM_022489.4(INF2):c.3684G>A:p.Arg1228=	coding	Benign
14	104714869	G	C	G104714869C	INF2	NM_022489.4(INF2):c.3694+13G>C	noncoding	Benign
14	104715336	G	A	G104715336A	INF2	NM_022489.4(INF2):c.3747G>A:p.Gln1249=	coding	Benign
14	104715511	A	G	A104715511G	INF2	NM_022489.4(INF2):c.1+171A>G	noncoding	Benign
14	104715514	C	T	C104715514T	INF2	NM_022489.4(INF2):c.1+174C>T	noncoding	Benign
14	104715525	C	T	C104715525T	INF2	NM_022489.4(INF2):c.1+185C>T	noncoding	Benign
14	104718803	C	T	C104718803T	INF2	NM_022489.4(INF2):c.*10C>T	coding	Benign
14	104718809	C	T	C104718809T	INF2	NM_022489.4(INF2):c.*16C>T	coding	Benign/Likely_benign
14	104718818	A	G	A104718818G	INF2	NM_022489.4(INF2):c.*25A>G	coding	Benign
14	104718929	C	T	C104718929T	INF2	NM_022489.4(INF2):c.*136C>T	noncoding	Benign
14	104719081	C	T	C104719081T	INF2	NM_022489.4(INF2):c.*288C>T	noncoding	Benign
14	104719181	A	G	A104719181G	INF2	NM_022489.4(INF2):c.*388A>G	noncoding	Benign
14	104719230	G	A	G104719230A	INF2	NM_022489.4(INF2):c.*437G>A	noncoding	Benign
14	104719329	G	T	G104719329T	INF2	NM_022489.4(INF2):c.*536G>T	noncoding	Benign
14	104719337	G	A	G104719337A	INF2	NM_022489.4(INF2):c.*544G>A	noncoding	Benign
14	104719346	T	C	T104719346C	INF2	NM_022489.4(INF2):c.*553T>C	noncoding	Benign
14	104719431	G	A	G104719431A	INF2	NM_022489.4(INF2):c.*638G>A	noncoding	Benign
14	104729893	A	C	A104729893C	ADSS1	NM_199165.2(ADSS1):c.1A>C:p.Met1Leu	coding	Benign
14	104730054	T	G	T104730054G	ADSS1	NM_199165.2(ADSS1):c.162T>G:p.Ala54=	coding	Benign
14	104730065	C	G	C104730065G	ADSS1	NM_199165.2(ADSS1):c.173C>G:p.Pro58Arg	coding	Benign
14	104735043	G	A	G104735043A	ADSS1	NM_199165.2(ADSS1):c.345G>A:p.Thr115=	coding	Benign
14	104741191	C	G	C104741191G	ADSS1	NM_199165.2(ADSS1):c.870C>G:p.Pro290=	coding	Benign
14	104741218	C	T	C104741218T	ADSS1	NM_199165.2(ADSS1):c.897C>T:p.Asn299=	coding	Benign
14	104741219	G	A	G104741219A	ADSS1	NM_152328.5(ADSS1):c.769G>A:p.Ala257Thr	coding	Pathogenic
14	104741231	G	A	G104741231A	ADSS1	NM_152328.5(ADSS1):c.781G>A:p.Asp261Asn	coding	Pathogenic/Likely_pathogenic
14	104741928	G	A	G104741928A	ADSS1	NM_199165.2(ADSS1):c.1003G>A:p.Gly335Ser	coding	Benign
14	104743104	G	C	G104743104C	ADSS1	NM_199165.2(ADSS1):c.1115G>C:p.Trp372Ser	coding	Benign
14	104744829	T	C	T104744829C	ADSS1	NM_152328.5(ADSS1):c.1091T>C:p.Leu364Pro	coding	Pathogenic
14	104756712	C	G	C104756712G	SIVA1	NM_006427.4(SIVA1):c.422C>G:p.Thr141Ser	coding	Benign
14	104770395	G	A	G104770395A	AKT1	NM_005163.2(AKT1):c.1389C>T:p.Ser463=	coding	Benign
14	104770805	T	G	T104770805G	AKT1	NM_005163.2(AKT1):c.1303A>C:p.Thr435Pro	coding	Pathogenic
14	104772374	G	A	G104772374A	AKT1	NM_005163.2(AKT1):c.1251C>T:p.Tyr417=	coding	Benign/Likely_benign
14	104772446	G	A	G104772446A	AKT1	NM_005163.2(AKT1):c.1179C>T:p.Gly393=	coding	Benign
14	104773018	G	A	G104773018A	AKT1	NM_005163.2(AKT1):c.1032C>T:p.Cys344=	coding	Benign
14	104773030	G	A	G104773030A	AKT1	NM_005163.2(AKT1):c.1020C>T:p.Tyr340=	coding	Benign
14	104773098	C	T	C104773098T	AKT1	NM_005163.2(AKT1):c.958-6G>A	noncoding	Benign
14	104773099	G	A	G104773099A	AKT1	NM_005163.2(AKT1):c.958-7C>T	noncoding	Benign
14	104773476	G	A	G104773476A	AKT1	NM_005163.2(AKT1):c.807C>T:p.Asn269=	coding	Benign
14	104773557	C	T	C104773557T	AKT1	NM_005163.2(AKT1):c.726G>A:p.Glu242=	coding	Benign
14	104774967	G	A	G104774967A	AKT1	NM_005163.2(AKT1):c.604C>T:p.Leu202=	coding	Benign
14	104775085	G	A	G104775085A	AKT1	NM_005163.2(AKT1):c.558C>T:p.Ile186=	coding	Benign
14	104775655	G	A	G104775655A	AKT1	NM_005163.2(AKT1):c.432C>T:p.Arg144=	coding	Benign
14	104779988	T	A	T104779988A	AKT1	NM_005163.2(AKT1):c.175+100A>T	noncoding	Benign
14	104780190	G	A	G104780190A	AKT1	NM_005163.2(AKT1):c.73C>T:p.Arg25Cys	coding	Pathogenic
14	104801891	G	A	G104801891A	ZBTB42	NM_001137601.3(ZBTB42):c.694G>A:p.Glu232Lys	coding	Benign
14	104802174	G	A	G104802174A	ZBTB42	NM_001137601.3(ZBTB42):c.977G>A:p.Arg326Gln	coding	Benign
14	104802387	G	A	G104802387A	ZBTB42	NM_001137601.3(ZBTB42):c.1190G>A:p.Arg397His	coding	Pathogenic
14	104802403	C	T	C104802403T	ZBTB42	NM_001137601.3(ZBTB42):c.1206C>T:p.Ser402=	coding	Benign
14	104802421	C	T	C104802421T	ZBTB42	NM_001137601.3(ZBTB42):c.1224C>T:p.His408=	coding	Benign
14	104880392	A	C	A104880392C	CEP170B	NM_001112726.3(CEP170B):c.439A>C:p.Arg147=	coding	Benign
14	104883233	C	T	C104883233T	CEP170B	NM_001112726.3(CEP170B):c.776C>T:p.Ala259Val	coding	Benign
14	104945672	A	G	A104945672G	AHNAK2	NM_138420.4(AHNAK2):c.9779T>C:p.Met3260Thr	coding	Benign
14	104945801	A	G	A104945801G	AHNAK2	NM_138420.4(AHNAK2):c.9650T>C:p.Leu3217Pro	coding	Benign
14	104946366	C	G	C104946366G	AHNAK2	NM_138420.4(AHNAK2):c.9085G>C:p.Glu3029Gln	coding	Benign
14	104948892	T	C	T104948892C	AHNAK2	NM_138420.4(AHNAK2):c.6559A>G:p.Met2187Val	coding	Benign
14	104948942	T	C	T104948942C	AHNAK2	NM_138420.4(AHNAK2):c.6509A>G:p.Lys2170Arg	coding	Benign
14	104950426	C	G	C104950426G	AHNAK2	NM_138420.4(AHNAK2):c.5025G>C:p.Lys1675Asn	coding	Benign
14	104952756	C	A	C104952756A	AHNAK2	NM_138420.4(AHNAK2):c.2695G>T:p.Val899Leu	coding	Benign
14	104954980	C	T	C104954980T	AHNAK2	NM_138420.4(AHNAK2):c.628G>A:p.Gly210Ser	coding	Benign
14	104957491	C	T	C104957491T	AHNAK2	NM_138420.4(AHNAK2):c.132G>A:p.Ala44=	coding	Benign
14	104957662	A	T	A104957662T	AHNAK2	NM_138420.4(AHNAK2):c.66T>A:p.Arg22=	coding	Benign
14	105051083	C	A	C105051083A	GPR132	NM_013345.4(GPR132):c.1054G>T:p.Ala352Ser	coding	Benign
14	105051408	C	T	C105051408T	GPR132	NM_013345.4(GPR132):c.729G>A:p.Ser243=	coding	Benign
14	105051630	G	C	G105051630C	GPR132	NM_013345.4(GPR132):c.507C>G:p.Leu169=	coding	Benign
14	105052023	G	A	G105052023A	GPR132	NM_013345.4(GPR132):c.114C>T:p.Phe38=	coding	Benign
14	105142709	C	T	C105142709T	JAG2	NM_002226.5(JAG2):c.3703G>A:p.Ala1235Thr	coding	Benign
14	105143022	C	T	C105143022T	JAG2	NM_002226.5(JAG2):c.3390G>A:p.Pro1130=	coding	Benign
14	105143043	G	A	G105143043A	JAG2	NM_002226.5(JAG2):c.3369C>T:p.Ser1123=	coding	Benign
14	105143499	G	A	G105143499A	JAG2	NM_002226.5(JAG2):c.3224C>T:p.Thr1075Met	coding	Benign
14	105143504	A	C	A105143504C	JAG2	NM_002226.5(JAG2):c.3219T>G:p.Val1073=	coding	Benign
14	105143591	G	A	G105143591A	JAG2	NM_002226.5(JAG2):c.3132C>T:p.Gly1044=	coding	Benign
14	105145832	C	T	C105145832T	JAG2	NM_002226.5(JAG2):c.2851G>A:p.Ala951Thr	coding	Benign
14	105145920	G	A	G105145920A	JAG2	NM_002226.5(JAG2):c.2763C>T:p.Ser921=	coding	Benign
14	105146681	C	T	C105146681T	JAG2	NM_002226.5(JAG2):c.2523G>A:p.Thr841=	coding	Benign
14	105147800	G	A	G105147800A	JAG2	NM_002226.5(JAG2):c.2337C>T:p.Asp779=	coding	Benign
14	105148360	G	A	G105148360A	JAG2	NM_002226.5(JAG2):c.2100C>T:p.Cys700=	coding	Benign
14	105150661	G	A	G105150661A	JAG2	NM_002226.5(JAG2):c.1545C>T:p.Asp515=	coding	Benign
14	105151672	G	A	G105151672A	JAG2	NM_002226.5(JAG2):c.1107C>T:p.Phe369=	coding	Benign
14	105152190	G	A	G105152190A	JAG2	NM_002226.5(JAG2):c.890C>T:p.Thr297Ile	coding	Benign
14	105155820	G	A	G105155820A	JAG2	NM_002226.5(JAG2):c.645C>T:p.Asn215=	coding	Benign
14	105167868	G	A	G105167868A	JAG2	NM_002226.5(JAG2):c.306C>T:p.Ser102=	coding	Benign
14	105217633	G	A	G105217633A	BRF1	NM_001519.4(BRF1):c.1683C>T:p.Pro561=	coding	Benign
14	105217666	G	A	G105217666A	BRF1	NM_001519.4(BRF1):c.1650C>T:p.Gly550=	coding	Benign
14	105226279	G	A	G105226279A	BRF1	NM_001519.4(BRF1):c.927C>T:p.Val309=	coding	Benign
14	105226625	C	T	C105226625T	BRF1	NM_001519.4(BRF1):c.915+9G>A	noncoding	Benign
14	105226674	G	T	G105226674T	BRF1	NM_001519.4(BRF1):c.875C>A:p.Pro292His	coding	Pathogenic
14	105226682	G	A	G105226682A	BRF1	NM_001519.4(BRF1):c.867C>T:p.Cys289=	coding	Benign
14	105228832	G	A	G105228832A	BRF1	NM_001519.4(BRF1):c.776C>T:p.Thr259Met	coding	Pathogenic
14	105241272	G	A	G105241272A	BRF1	NM_001519.4(BRF1):c.687C>T:p.Cys229=	coding	Benign
14	105241292	G	A	G105241292A	BRF1	NM_001519.4(BRF1):c.667C>T:p.Arg223Trp	coding	Pathogenic
14	105241305	C	G	C105241305G	BRF1	NM_001519.4(BRF1):c.654G>C:p.Trp218Cys	coding	Pathogenic
14	105241341	A	C	A105241341C	BRF1	NM_001519.4(BRF1):c.618T>G:p.Thr206=	coding	Benign
14	105241410	C	T	C105241410T	BRF1	NM_001519.4(BRF1):c.549G>A:p.Pro183=	coding	Benign
14	105286318	C	G	C105286318G	BRF1	NM_001519.4(BRF1):c.243G>C:p.Ser81=	coding	Benign
14	105355120	G	A	G105355120A	PACS2	NM_001100913.3(PACS2):c.366G>A:p.Lys122=	coding	Benign
14	105367278	C	T	C105367278T	PACS2	NM_001100913.3(PACS2):c.489C>T:p.Pro163=	coding	Benign
14	105368112	G	A	G105368112A	PACS2	NM_001100913.3(PACS2):c.625G>A:p.Glu209Lys	coding	Pathogenic/Likely_pathogenic
14	105376863	C	T	C105376863T	PACS2	NM_001100913.3(PACS2):c.897C>T:p.Ser299=	coding	Benign
14	105382467	G	A	G105382467A	PACS2	NM_001100913.3(PACS2):c.1414-10G>A	noncoding	Benign
14	105466467	G	A	G105466467A	MTA1	NM_004689.4(MTA1):c.1666G>A:p.Val556Met	coding	Benign
14	105469951	C	T	C105469951T	MTA1	NM_004689.4(MTA1):c.1956C>T:p.Asp652=	coding	Benign
14	105479441	C	T	C105479441T	CRIP2	NM_001312.4(CRIP2):c.507C>T:p.Asp169=	coding	Benign
14	105488350	G	T	G105488350T	CRIP1	NM_001311.5(CRIP1):c.155G>T:p.Cys52Phe	coding	Benign
14	105854468	A	C	A105854468C	IGHM	NC_000014.8:g.106320573A>C	noncoding	Pathogenic
14	105855041	A	G	A105855041G	IGH;IGHM	NC_000014.9:g.105855041A>G	noncoding	Benign
14	105855107	C	T	C105855107T	IGHM	NC_000014.8:g.106321212C>T	noncoding	Pathogenic
14	105855988	G	C	G105855988C	IGHM;IGH	NC_000014.8:g.106322093G>C	noncoding	Benign
14	105856156	C	T	C105856156T	IGHM;IGH	NC_000014.8:g.106322261C>T	noncoding	Benign
15	22094704	A	C	A22094704C	OR4N4	NM_001005241.3(OR4N4):c.183A>C:p.Leu61Phe	coding	Benign
15	22094753	G	C	G22094753C	OR4N4	NM_001005241.3(OR4N4):c.232G>C:p.Ala78Pro	coding	Benign
15	22094777	C	T	C22094777T	OR4N4	NM_001005241.3(OR4N4):c.256C>T:p.Leu86Phe	coding	Benign
15	22786790	C	G	C22786790G	NIPA1	NM_144599.5(NIPA1):c.134C>G:p.Thr45Arg	coding	Pathogenic
15	22812070	C	T	C22812070T	NIPA1	NM_144599.5(NIPA1):c.227-93C>T	noncoding	Benign
15	22812252	G	A	G22812252A	NIPA1	NM_144599.5(NIPA1):c.316G>A:p.Gly106Arg	coding	Pathogenic
15	22812252	G	C	G22812252C	NIPA1	NM_144599.5(NIPA1):c.316G>C:p.Gly106Arg	coding	Pathogenic
15	22820436	A	G	A22820436G	NIPA1	NM_144599.5(NIPA1):c.441A>G:p.Thr147=	coding	Benign
15	22823699	C	T	C22823699T	NIPA1	NM_144599.5(NIPA1):c.479-29C>T	noncoding	Benign
15	22823757	C	G	C22823757G	NIPA1	NM_144599.5(NIPA1):c.508C>G:p.Leu170Val	coding	Benign
15	22823786	C	T	C22823786T	NIPA1	NM_144599.5(NIPA1):c.537C>T:p.Ile179=	coding	Benign/Likely_benign
15	22823980	A	G	A22823980G	NIPA1	NM_144599.5(NIPA1):c.731A>G:p.Gln244Arg	coding	Pathogenic
15	22824050	G	T	G22824050T	NIPA1	NM_144599.5(NIPA1):c.801G>T:p.Val267=	coding	Benign
15	22824155	C	T	C22824155T	NIPA1	NM_144599.5(NIPA1):c.906C>T:p.Ser302=	coding	Benign/Likely_benign
15	22824250	G	C	G22824250C	NIPA1	NM_144599.5(NIPA1):c.*11G>C	noncoding	Benign
15	22824526	T	C	T22824526C	NIPA1	NM_144599.5(NIPA1):c.*287T>C	noncoding	Benign
15	22825211	C	T	C22825211T	NIPA1	NM_144599.5(NIPA1):c.*972C>T	noncoding	Benign
15	22825251	A	G	A22825251G	NIPA1	NM_144599.5(NIPA1):c.*1012A>G	noncoding	Benign
15	22825366	C	G	C22825366G	NIPA1	NM_144599.5(NIPA1):c.*1127C>G	noncoding	Benign
15	22825385	T	C	T22825385C	NIPA1	NM_144599.5(NIPA1):c.*1146T>C	noncoding	Benign
15	22825634	C	T	C22825634T	NIPA1	NM_144599.5(NIPA1):c.*1395C>T	noncoding	Benign
15	22825644	G	C	G22825644C	NIPA1	NM_144599.5(NIPA1):c.*1405G>C	noncoding	Benign
15	22825802	C	T	C22825802T	NIPA1	NM_144599.5(NIPA1):c.*1563C>T	noncoding	Benign
15	22825963	C	G	C22825963G	NIPA1	NM_144599.5(NIPA1):c.*1724C>G	noncoding	Benign
15	22826166	A	G	A22826166G	NIPA1	NM_144599.5(NIPA1):c.*1927A>G	noncoding	Benign
15	22826213	C	A	C22826213A	NIPA1	NM_144599.5(NIPA1):c.*1974C>A	noncoding	Benign
15	22826220	A	G	A22826220G	NIPA1	NM_144599.5(NIPA1):c.*1981A>G	noncoding	Benign
15	22826664	A	G	A22826664G	NIPA1	NM_144599.5(NIPA1):c.*2425A>G	noncoding	Benign
15	22826708	A	G	A22826708G	NIPA1	NM_144599.5(NIPA1):c.*2469A>G	noncoding	Benign
15	22826754	G	C	G22826754C	NIPA1	NM_144599.5(NIPA1):c.*2515G>C	noncoding	Benign
15	22826888	A	G	A22826888G	NIPA1	NM_144599.5(NIPA1):c.*2649A>G	noncoding	Benign
15	22827019	G	T	G22827019T	NIPA1	NM_144599.5(NIPA1):c.*2780G>T	noncoding	Benign
15	22827517	C	G	C22827517G	NIPA1	NM_144599.5(NIPA1):c.*3278C>G	noncoding	Benign
15	22827632	A	T	A22827632T	NIPA1	NM_144599.5(NIPA1):c.*3393A>T	noncoding	Benign
15	22827639	C	T	C22827639T	NIPA1	NM_144599.5(NIPA1):c.*3400C>T	noncoding	Benign
15	22827719	C	T	C22827719T	NIPA1	NM_144599.5(NIPA1):c.*3480C>T	noncoding	Benign
15	22827829	A	G	A22827829G	NIPA1	NM_144599.5(NIPA1):c.*3590A>G	noncoding	Benign
15	22827941	C	T	C22827941T	NIPA1	NM_144599.5(NIPA1):c.*3702C>T	noncoding	Benign
15	22828111	T	G	T22828111G	NIPA1	NM_144599.5(NIPA1):c.*3872T>G	noncoding	Benign
15	22828149	G	A	G22828149A	NIPA1	NM_144599.5(NIPA1):c.*3910G>A	noncoding	Benign
15	22828457	G	A	G22828457A	NIPA1	NM_144599.5(NIPA1):c.*4218G>A	noncoding	Benign
15	22828602	C	T	C22828602T	NIPA1	NM_144599.5(NIPA1):c.*4363C>T	noncoding	Benign
15	22828749	T	C	T22828749C	NIPA1	NM_144599.5(NIPA1):c.*4510T>C	noncoding	Benign
15	22828955	G	A	G22828955A	NIPA1	NM_144599.5(NIPA1):c.*4716G>A	noncoding	Benign
15	22828973	G	C	G22828973C	NIPA1	NM_144599.5(NIPA1):c.*4734G>C	noncoding	Benign
15	22829013	G	A	G22829013A	NIPA1	NM_144599.5(NIPA1):c.*4774G>A	noncoding	Benign
15	22829031	G	T	G22829031T	NIPA1	NM_144599.5(NIPA1):c.*4792G>T	noncoding	Benign
15	22829124	T	C	T22829124C	NIPA1	NM_144599.5(NIPA1):c.*4885T>C	noncoding	Benign
15	22829172	C	T	C22829172T	NIPA1	NM_144599.5(NIPA1):c.*4933C>T	noncoding	Benign
15	22829203	G	A	G22829203A	NIPA1	NM_144599.5(NIPA1):c.*4964G>A	noncoding	Benign
15	22829283	G	C	G22829283C	NIPA1	NM_144599.5(NIPA1):c.*5044G>C	noncoding	Benign
15	22829310	C	T	C22829310T	NIPA1	NM_144599.5(NIPA1):c.*5071C>T	noncoding	Benign
15	22829476	G	C	G22829476C	NIPA1	NM_144599.5(NIPA1):c.*5237G>C	noncoding	Benign
15	22829538	G	C	G22829538C	NIPA1	NM_144599.5(NIPA1):c.*5299G>C	noncoding	Benign
15	22829570	T	G	T22829570G	NIPA1	NM_144599.5(NIPA1):c.*5331T>G	noncoding	Benign
15	22870187	C	T	C22870187T	CYFIP1	NM_014608.6(CYFIP1):c.3603G>A:p.Leu1201=	coding	Benign
15	22874598	G	A	G22874598A	CYFIP1	NM_014608.6(CYFIP1):c.3162C>T:p.Tyr1054=	coding	Benign
15	22875215	C	A	C22875215A	CYFIP1	NM_014608.6(CYFIP1):c.3099G>T:p.Pro1033=	coding	Benign
15	22875275	G	C	G22875275C	CYFIP1	NM_014608.6(CYFIP1):c.3043-4C>G	noncoding	Benign
15	22879947	G	A	G22879947A	CYFIP1	NM_014608.6(CYFIP1):c.3008C>T:p.Ala1003Val	coding	Benign
15	22882981	C	T	C22882981T	CYFIP1	NM_014608.6(CYFIP1):c.2707G>A:p.Gly903Ser	coding	Benign
15	22903786	G	A	G22903786A	CYFIP1	NM_014608.6(CYFIP1):c.2508C>T:p.Tyr836=	coding	Benign
15	22909199	T	C	T22909199C	CYFIP1	NM_014608.6(CYFIP1):c.2383A>G:p.Ile795Val	coding	Benign
15	22909308	G	A	G22909308A	CYFIP1	NM_014608.6(CYFIP1):c.2274C>T:p.Leu758=	coding	Benign
15	22910550	G	A	G22910550A	CYFIP1	NM_014608.6(CYFIP1):c.2238C>T:p.Tyr746=	coding	Benign
15	22914734	C	G	C22914734G	CYFIP1	NM_014608.6(CYFIP1):c.1977G>C:p.Ser659=	coding	Benign
15	22918835	C	T	C22918835T	CYFIP1	NM_014608.6(CYFIP1):c.1383G>A:p.Leu461=	coding	Benign
15	22927897	G	C	G22927897C	CYFIP1	NM_014608.6(CYFIP1):c.1233+9C>G	noncoding	Benign
15	22927986	C	T	C22927986T	CYFIP1	NM_014608.6(CYFIP1):c.1153G>A:p.Ala385Thr	coding	Benign
15	22932292	C	T	C22932292T	CYFIP1	NM_014608.6(CYFIP1):c.1041G>A:p.Glu347=	coding	Benign
15	22932347	A	G	A22932347G	CYFIP1	NM_014608.6(CYFIP1):c.993-7T>C	noncoding	Benign
15	22933882	C	T	C22933882T	CYFIP1	NM_014608.6(CYFIP1):c.912G>A:p.Val304=	coding	Benign/Likely_benign
15	22943270	G	A	G22943270A	CYFIP1	NM_014608.6(CYFIP1):c.472C>T:p.Leu158=	coding	Benign
15	22947199	G	A	G22947199A	CYFIP1	NM_014608.6(CYFIP1):c.87C>T:p.Ile29=	coding	Benign
15	23005480	C	T	C23005480T	TUBGCP5	NM_052903.6(TUBGCP5):c.2664G>A:p.Val888=	coding	Benign
15	23010031	C	T	C23010031T	TUBGCP5	NM_052903.6(TUBGCP5):c.2058G>A:p.Thr686=	coding	Benign
15	23017924	G	A	G23017924A	TUBGCP5	NM_052903.6(TUBGCP5):c.1605C>T:p.Ser535=	coding	Benign
15	23026108	T	C	T23026108C	TUBGCP5	NM_052903.6(TUBGCP5):c.827+8A>G	noncoding	Benign
15	23026171	C	T	C23026171T	TUBGCP5	NM_052903.6(TUBGCP5):c.772G>A:p.Val258Ile	coding	Benign
15	23032789	C	T	C23032789T	TUBGCP5	NM_052903.6(TUBGCP5):c.345G>A:p.Leu115=	coding	Benign
15	23037101	T	C	T23037101C	TUBGCP5	NM_052903.6(TUBGCP5):c.198A>G:p.Glu66=	coding	Benign
15	23566058	C	T	C23566058T	MKRN3	NM_005664.4(MKRN3):c.276C>T:p.Ser92=	coding	Benign
15	23566175	C	T	C23566175T	MKRN3	NM_005664.4(MKRN3):c.393C>T:p.Gly131=	coding	Benign
15	23566184	G	A	G23566184A	MKRN3	NM_005664.4(MKRN3):c.402G>A:p.Pro134=	coding	Benign
15	23566348	G	A	G23566348A	MKRN3	NM_005664.4(MKRN3):c.566G>A:p.Arg189His	coding	Benign
15	23566764	C	T	C23566764T	MKRN3	NM_005664.4(MKRN3):c.982C>T:p.Arg328Cys	coding	Pathogenic
15	23566877	G	T	G23566877T	MKRN3	NM_005664.4(MKRN3):c.1095G>T:p.Arg365Ser	coding	Pathogenic
15	23567239	C	G	C23567239G	MKRN3	NM_005664.4(MKRN3):c.1457C>G:p.Pro486Arg	coding	Benign
15	23644086	C	T	C23644086T	MAGEL2	NM_019066.5(MAGEL2):c.3657G>A:p.Ala1219=	coding	Benign
15	23644260	A	G	A23644260G	MAGEL2	NM_019066.5(MAGEL2):c.3483T>C:p.Phe1161=	coding	Benign
15	23644269	G	A	G23644269A	MAGEL2	NM_019066.5(MAGEL2):c.3474C>T:p.Thr1158=	coding	Benign
15	23644514	A	G	A23644514G	MAGEL2	NM_019066.5(MAGEL2):c.3229T>C:p.Leu1077=	coding	Benign/Likely_benign
15	23644535	C	A	C23644535A	MAGEL2	NM_019066.5(MAGEL2):c.3208G>T:p.Glu1070Ter	coding	Pathogenic
15	23644592	G	T	G23644592T	MAGEL2	NM_019066.5(MAGEL2):c.3151C>A:p.Leu1051Ile	coding	Benign/Likely_benign
15	23644619	G	A	G23644619A	MAGEL2	NM_019066.5(MAGEL2):c.3124C>T:p.Gln1042Ter	coding	Pathogenic
15	23644726	G	C	G23644726C	MAGEL2	NM_019066.5(MAGEL2):c.3017C>G:p.Thr1006Ser	coding	Benign/Likely_benign
15	23644857	G	A	G23644857A	MAGEL2	NM_019066.5(MAGEL2):c.2886C>T:p.Ser962=	coding	Benign
15	23644869	C	T	C23644869T	MAGEL2	NM_019066.5(MAGEL2):c.2874G>A:p.Trp958Ter	coding	Pathogenic
15	23644959	G	A	G23644959A	MAGEL2	NM_019066.5(MAGEL2):c.2784C>T:p.Ile928=	coding	Benign
15	23645051	T	C	T23645051C	MAGEL2	NM_019066.5(MAGEL2):c.2692A>G:p.Ser898Gly	coding	Benign
15	23645110	G	A	G23645110A	MAGEL2	NM_019066.5(MAGEL2):c.2633C>T:p.Pro878Leu	coding	Benign
15	23645131	G	A	G23645131A	MAGEL2	NM_019066.5(MAGEL2):c.2612C>T:p.Ala871Val	coding	Benign/Likely_benign
15	23645132	C	A	C23645132A	MAGEL2	NM_019066.5(MAGEL2):c.2611G>T:p.Ala871Ser	coding	Benign/Likely_benign
15	23645325	G	A	G23645325A	MAGEL2	NM_019066.5(MAGEL2):c.2418C>T:p.Gly806=	coding	Benign
15	23645492	T	C	T23645492C	MAGEL2	NM_019066.5(MAGEL2):c.2251A>G:p.Ile751Val	coding	Benign
15	23645580	G	T	G23645580T	MAGEL2	NM_019066.5(MAGEL2):c.2163C>A:p.Cys721Ter	coding	Pathogenic
15	23645669	C	T	C23645669T	MAGEL2	NM_019066.5(MAGEL2):c.2074G>A:p.Val692Ile	coding	Benign/Likely_benign
15	23645747	G	A	G23645747A	MAGEL2	NM_019066.5(MAGEL2):c.1996C>T:p.Gln666Ter	coding	Pathogenic
15	23645831	G	A	G23645831A	MAGEL2	NM_019066.5(MAGEL2):c.1912C>T:p.Gln638Ter	coding	Pathogenic/Likely_pathogenic
15	23645837	G	A	G23645837A	MAGEL2	NM_019066.5(MAGEL2):c.1906C>T:p.Gln636Ter	coding	Pathogenic
15	23645935	G	T	G23645935T	MAGEL2	NM_019066.5(MAGEL2):c.1808C>A:p.Ser603Ter	coding	Pathogenic
15	23645981	G	A	G23645981A	MAGEL2	NM_019066.5(MAGEL2):c.1762C>T:p.Gln588Ter	coding	Pathogenic
15	23645982	C	T	C23645982T	MAGEL2	NM_019066.5(MAGEL2):c.1761G>A:p.Trp587Ter	coding	Pathogenic
15	23646122	G	A	G23646122A	MAGEL2	NM_019066.5(MAGEL2):c.1621C>T:p.Gln541Ter	coding	Pathogenic
15	23646130	G	T	G23646130T	MAGEL2	NM_019066.5(MAGEL2):c.1613C>A:p.Ala538Glu	coding	Pathogenic
15	23646297	A	G	A23646297G	MAGEL2	NM_019066.5(MAGEL2):c.1446T>C:p.Ala482=	coding	Benign
15	23646339	G	T	G23646339T	MAGEL2	NM_019066.5(MAGEL2):c.1404C>A:p.Ala468=	coding	Benign
15	23646356	C	G	C23646356G	MAGEL2	NM_019066.5(MAGEL2):c.1387G>C:p.Ala463Pro	coding	Benign
15	23646439	G	A	G23646439A	MAGEL2	NM_019066.5(MAGEL2):c.1304C>T:p.Pro435Leu	coding	Benign
15	23646664	G	A	G23646664A	MAGEL2	NM_019066.5(MAGEL2):c.1079C>T:p.Ala360Val	coding	Benign/Likely_benign
15	23646842	G	A	G23646842A	MAGEL2	NM_019066.5(MAGEL2):c.901C>T:p.Pro301Ser	coding	Benign
15	23646890	C	T	C23646890T	MAGEL2	NM_019066.5(MAGEL2):c.853G>A:p.Gly285Arg	coding	Benign
15	23647065	A	C	A23647065C	MAGEL2	NM_019066.5(MAGEL2):c.678T>G:p.Gly226=	coding	Benign
15	23647104	T	G	T23647104G	MAGEL2	NM_019066.5(MAGEL2):c.639A>C:p.Pro213=	coding	Benign/Likely_benign
15	23647174	G	C	G23647174C	MAGEL2	NM_019066.5(MAGEL2):c.569C>G:p.Ala190Gly	coding	Benign
15	23647360	A	G	A23647360G	MAGEL2	NM_019066.5(MAGEL2):c.383T>C:p.Leu128Pro	coding	Benign/Likely_benign
15	23647518	C	T	C23647518T	MAGEL2	NM_019066.5(MAGEL2):c.225G>A:p.Pro75=	coding	Benign
15	23686265	A	G	A23686265G	NDN	NM_002487.3(NDN):c.953T>C:p.Val318Ala	coding	Benign/Likely_benign
15	23686450	G	A	G23686450A	NDN	NM_002487.3(NDN):c.768C>T:p.Pro256=	coding	Benign
15	23686569	G	A	G23686569A	NDN	NM_002487.3(NDN):c.649C>T:p.Leu217=	coding	Benign
15	23686955	G	A	G23686955A	NDN	NM_002487.3(NDN):c.263C>T:p.Pro88Leu	coding	Benign
15	23687167	G	T	G23687167T	NDN	NM_002487.3(NDN):c.51C>A:p.Ala17=	coding	Benign
15	24675936	C	T	C24675936T	NPAP1	NM_018958.3(NPAP1):c.69C>T:p.Gly23=	coding	Benign
15	24676165	C	T	C24676165T	NPAP1	NM_018958.3(NPAP1):c.298C>T:p.Leu100=	coding	Benign
15	24676346	T	G	T24676346G	NPAP1	NM_018958.3(NPAP1):c.479T>G:p.Val160Gly	coding	Benign
15	24676365	G	A	G24676365A	NPAP1	NM_018958.3(NPAP1):c.498G>A:p.Pro166=	coding	Benign
15	24676410	C	T	C24676410T	NPAP1	NM_018958.3(NPAP1):c.543C>T:p.Ser181=	coding	Benign
15	24676513	T	A	T24676513A	NPAP1	NM_018958.3(NPAP1):c.646T>A:p.Phe216Ile	coding	Benign
15	24676530	G	A	G24676530A	NPAP1	NM_018958.3(NPAP1):c.663G>A:p.Met221Ile	coding	Benign
15	24676712	A	G	A24676712G	NPAP1	NM_018958.3(NPAP1):c.845A>G:p.Asn282Ser	coding	Benign
15	24677260	C	T	C24677260T	NPAP1	NM_018958.3(NPAP1):c.1393C>T:p.Leu465Phe	coding	Benign
15	24678648	C	T	C24678648T	NPAP1	NM_018958.3(NPAP1):c.2781C>T:p.Gly927=	coding	Benign
15	24678913	G	T	G24678913T	NPAP1	NM_018958.3(NPAP1):c.3046G>T:p.Asp1016Tyr	coding	Benign
15	24678973	C	T	C24678973T	NPAP1	NM_018958.3(NPAP1):c.3106C>T:p.Leu1036Phe	coding	Benign
15	24976416	T	C	T24976416C	SNRPN	NM_003097.5(SNRPN):c.267T>C:p.Asp89=	coding	Benign
15	24976972	C	A	C24976972A	SNRPN	NM_003097.5(SNRPN):c.363C>A:p.Pro121=	coding	Benign
15	24977882	G	A	G24977882A	SNRPN	NM_003097.5(SNRPN):c.525G>A:p.Pro175=	coding	Benign
15	24977891	C	T	C24977891T	SNRPN	NM_003097.5(SNRPN):c.534C>T:p.Pro178=	coding	Benign
15	25339138	T	A	T25339138A	UBE3A	NM_130839.5(UBE3A):c.2618A>T:p.Ter873Leu	coding	Pathogenic
15	25339138	T	C	T25339138C	UBE3A	NM_130839.5(UBE3A):c.2618A>G:p.Ter873=	coding	Benign
15	25339164	C	T	C25339164T	UBE3A	NM_130839.5(UBE3A):c.2592G>A:p.Thr864=	coding	Benign
15	25339207	G	C	G25339207C	UBE3A	NM_130839.5(UBE3A):c.2549C>G:p.Ser850Ter	coding	Pathogenic
15	25339211	A	G	A25339211G	UBE3A	NM_130839.5(UBE3A):c.2545T>C:p.Tyr849His	coding	Pathogenic
15	25339222	A	T	A25339222T	UBE3A	NM_130839.5(UBE3A):c.2534T>A:p.Leu845Ter	coding	Pathogenic
15	25339409	A	G	A25339409G	UBE3A	NM_130838.3(UBE3A):c.2439-152T>C	noncoding	Benign
15	25339476	T	C	T25339476C	UBE3A	NM_130838.3(UBE3A):c.2439-219A>G	noncoding	Benign
15	25340173	G	A	G25340173A	UBE3A	NM_130839.5(UBE3A):c.2410C>T:p.Gln804Ter	coding	Pathogenic
15	25340219	C	T	C25340219T	UBE3A	NM_130839.5(UBE3A):c.2364G>A:p.Trp788Ter	coding	Pathogenic
15	25354402	C	A	C25354402A	UBE3A	NM_130839.5(UBE3A):c.2305G>T:p.Glu769Ter	coding	Pathogenic
15	25354414	G	A	G25354414A	UBE3A	NM_130839.5(UBE3A):c.2293C>T:p.Gln765Ter	coding	Pathogenic
15	25354536	C	T	C25354536T	UBE3A	NM_130839.5(UBE3A):c.2272G>A:p.Gly758Arg	coding	Pathogenic
15	25354571	A	T	A25354571T	UBE3A	NM_130839.5(UBE3A):c.2237T>A:p.Leu746Ter	coding	Pathogenic
15	25354679	A	C	A25354679C	UBE3A	NM_130839.5(UBE3A):c.2129T>G:p.Phe710Cys	coding	Pathogenic
15	25354685	T	G	T25354685G	UBE3A	NM_130838.3(UBE3A):c.2065-2A>C	noncoding	Pathogenic
15	25355883	A	G	A25355883G	UBE3A	NM_000462.5(UBE3A):c.2133+9T>C	noncoding	Benign
15	25355984	G	A	G25355984A	UBE3A	NM_130839.5(UBE3A):c.2032C>T:p.Gln678Ter	coding	Pathogenic
15	25355989	G	A	G25355989A	UBE3A	NM_130839.5(UBE3A):c.2027C>T:p.Thr676Ile	coding	Pathogenic
15	25356047	G	A	G25356047A	UBE3A;SNHG14	NM_130839.5(UBE3A):c.1969C>T:p.Gln657Ter	coding	Pathogenic
15	25356333	G	A	G25356333A	UBE3A	NM_130838.3(UBE3A):c.1900-277C>T	noncoding	Benign
15	25356840	C	G	C25356840G	UBE3A	NM_130839.5(UBE3A):c.1810G>C:p.Glu604Gln	coding	Pathogenic
15	25356860	C	T	C25356860T	UBE3A	NM_130839.5(UBE3A):c.1790G>A:p.Trp597Ter	coding	Pathogenic
15	25356877	T	C	T25356877C	UBE3A	NM_130839.5(UBE3A):c.1773A>G:p.Glu591=	coding	Benign
15	25356883	G	A	G25356883A	UBE3A	NM_130839.5(UBE3A):c.1767C>T:p.Tyr589=	coding	Benign/Likely_benign
15	25356898	T	C	T25356898C	UBE3A	NM_130838.3(UBE3A):c.1694-2A>G	noncoding	Pathogenic
15	25356898	T	G	T25356898G	UBE3A	NM_130838.3(UBE3A):c.1694-2A>C	noncoding	Pathogenic
15	25360477	A	T	A25360477T	UBE3A	NM_130839.5(UBE3A):c.1659T>A:p.Tyr553Ter	coding	Pathogenic
15	25360509	C	A	C25360509A	UBE3A	NM_130839.5(UBE3A):c.1627G>T:p.Glu543Ter	coding	Pathogenic
15	25360535	T	C	T25360535C	UBE3A;SNHG14	NM_130839.5(UBE3A):c.1609-8A>G	noncoding	Pathogenic
15	25370565	C	T	C25370565T	UBE3A	NM_130838.3(UBE3A):c.1548+1G>A	noncoding	Pathogenic
15	25370598	G	A	G25370598A	UBE3A	NM_130839.5(UBE3A):c.1576C>T:p.Arg526Cys	coding	Pathogenic/Likely_pathogenic
15	25370670	G	A	G25370670A	UBE3A	NM_130839.5(UBE3A):c.1504C>T:p.Arg502Ter	coding	Pathogenic
15	25370741	G	A	G25370741A	UBE3A	NM_130839.5(UBE3A):c.1433C>T:p.Pro478Leu	coding	Pathogenic
15	25370743	A	T	A25370743T	UBE3A	NM_130839.5(UBE3A):c.1431T>A:p.Cys477Ter	coding	Pathogenic
15	25370770	T	C	T25370770C	UBE3A	NM_130839.5(UBE3A):c.1404A>G:p.Thr468=	coding	Benign
15	25370829	C	A	C25370829A	UBE3A	NM_130839.5(UBE3A):c.1345G>T:p.Glu449Ter	coding	Pathogenic
15	25370844	C	A	C25370844A	UBE3A	NM_130839.5(UBE3A):c.1330G>T:p.Glu444Ter	coding	Pathogenic
15	25370865	G	A	G25370865A	UBE3A	NM_130839.5(UBE3A):c.1309C>T:p.Arg437Ter	coding	Pathogenic
15	25370905	G	A	G25370905A	UBE3A	NM_130839.5(UBE3A):c.1269C>T:p.Asp423=	coding	Benign/Likely_benign
15	25370913	G	A	G25370913A	UBE3A	NM_130839.5(UBE3A):c.1261C>T:p.Arg421Ter	coding	Pathogenic
15	25370937	C	A	C25370937A	UBE3A	NM_130839.5(UBE3A):c.1237G>T:p.Glu413Ter	coding	Pathogenic
15	25370967	C	A	C25370967A	UBE3A	NM_130839.5(UBE3A):c.1207G>T:p.Glu403Ter	coding	Pathogenic
15	25370989	T	C	T25370989C	UBE3A	NM_130839.5(UBE3A):c.1185A>G:p.Glu395=	coding	Benign
15	25371000	C	A	C25371000A	UBE3A	NM_130839.5(UBE3A):c.1174G>T:p.Glu392Ter	coding	Pathogenic
15	25371024	C	A	C25371024A	UBE3A	NM_130839.5(UBE3A):c.1150G>T:p.Glu384Ter	coding	Pathogenic
15	25371043	A	T	A25371043T	UBE3A	NM_130839.5(UBE3A):c.1131T>A:p.Tyr377Ter	coding	Pathogenic
15	25371108	G	A	G25371108A	UBE3A	NM_130839.5(UBE3A):c.1066C>T:p.Arg356Ter	coding	Pathogenic
15	25371150	G	A	G25371150A	UBE3A	NM_130839.5(UBE3A):c.1024C>T:p.Gln342Ter	coding	Pathogenic
15	25371153	G	A	G25371153A	UBE3A	NM_130839.5(UBE3A):c.1021C>T:p.Gln341Ter	coding	Pathogenic
15	25371162	C	A	C25371162A	UBE3A	NM_130839.5(UBE3A):c.1012G>T:p.Glu338Ter	coding	Pathogenic
15	25371285	C	A	C25371285A	UBE3A	NM_130839.5(UBE3A):c.889G>T:p.Glu297Ter	coding	Pathogenic
15	25371326	A	C	A25371326C	UBE3A	NM_130839.5(UBE3A):c.848T>G:p.Leu283Trp	coding	Pathogenic
15	25371348	G	A	G25371348A	UBE3A	NM_130839.5(UBE3A):c.826C>T:p.Arg276Ter	coding	Pathogenic
15	25371364	A	T	A25371364T	UBE3A	NM_130839.5(UBE3A):c.810T>A:p.Tyr270Ter	coding	Pathogenic
15	25371397	A	T	A25371397T	UBE3A	NM_130839.5(UBE3A):c.777T>A:p.Tyr259Ter	coding	Pathogenic
15	25371426	C	A	C25371426A	UBE3A	NM_130839.5(UBE3A):c.748G>T:p.Glu250Ter	coding	Pathogenic
15	25371454	G	T	G25371454T	UBE3A	NM_130839.5(UBE3A):c.720C>A:p.Tyr240Ter	coding	Pathogenic
15	25371479	T	A	T25371479A	UBE3A	NM_130839.5(UBE3A):c.695A>T:p.Asp232Val	coding	Pathogenic
15	25371548	G	C	G25371548C	UBE3A	NM_130839.5(UBE3A):c.626C>G:p.Ser209Ter	coding	Pathogenic
15	25371556	T	A	T25371556A	UBE3A	NM_130839.5(UBE3A):c.618A>T:p.Ala206=	coding	Benign/Likely_benign
15	25371582	C	T	C25371582T	UBE3A	NM_130839.5(UBE3A):c.592G>A:p.Ala198Thr	coding	Benign/Likely_benign
15	25371639	G	A	G25371639A	UBE3A;SNHG14	NM_130839.5(UBE3A):c.535C>T:p.Gln179Ter	coding	Pathogenic
15	25371697	T	A	T25371697A	UBE3A	NM_130839.5(UBE3A):c.477A>T:p.Ala159=	coding	Benign
15	25371725	A	G	A25371725G	UBE3A	NM_130839.5(UBE3A):c.449T>C:p.Ile150Thr	coding	Pathogenic
15	25371797	G	T	G25371797T	UBE3A	NM_130839.5(UBE3A):c.377C>A:p.Thr126Lys	coding	Pathogenic
15	25371798	T	G	T25371798G	UBE3A	NM_130839.5(UBE3A):c.376A>C:p.Thr126Pro	coding	Pathogenic
15	25371801	A	G	A25371801G	UBE3A	NM_130839.5(UBE3A):c.373T>C:p.Leu125=	coding	Benign
15	25371814	T	A	T25371814A	UBE3A	NM_130838.3(UBE3A):c.302-2A>T	noncoding	Pathogenic
15	25375650	C	T	C25375650T	UBE3A	NM_130839.5(UBE3A):c.176G>A:p.Arg59His	coding	Benign
15	25375707	C	A	C25375707A	UBE3A	NM_130839.5(UBE3A):c.119G>T:p.Gly40Val	coding	Pathogenic
15	25375759	G	A	G25375759A	UBE3A	NM_130839.5(UBE3A):c.67C>T:p.Arg23Ter	coding	Pathogenic
15	25411960	C	T	C25411960T	UBE3A	NM_130839.5(UBE3A):c.-153G>A	noncoding	Benign
15	25680137	C	T	C25680137T	ATP10A	NM_024490.3(ATP10A):c.3850G>A:p.Ala1284Thr	coding	Benign
15	25680192	C	T	C25680192T	ATP10A	NM_024490.3(ATP10A):c.3795G>A:p.Met1265Ile	coding	Benign
15	25680237	C	A	C25680237A	ATP10A	NM_024490.3(ATP10A):c.3750G>T:p.Ala1250=	coding	Benign
15	25680896	C	T	C25680896T	ATP10A	NM_024490.3(ATP10A):c.3592G>A:p.Val1198Met	coding	Benign
15	25683316	C	T	C25683316T	ATP10A	NM_024490.3(ATP10A):c.3462G>A:p.Pro1154=	coding	Benign
15	25683361	C	T	C25683361T	ATP10A	NM_024490.3(ATP10A):c.3417G>A:p.Gly1139=	coding	Benign
15	25683481	G	A	G25683481A	ATP10A	NM_024490.3(ATP10A):c.3297C>T:p.Phe1099=	coding	Benign
15	25687751	G	A	G25687751A	ATP10A	NM_024490.3(ATP10A):c.3243C>T:p.Cys1081=	coding	Benign
15	25695021	C	T	C25695021T	ATP10A	NM_024490.3(ATP10A):c.2886G>A:p.Thr962=	coding	Benign
15	25695022	G	A	G25695022A	ATP10A	NM_024490.3(ATP10A):c.2885C>T:p.Thr962Met	coding	Benign
15	25701949	G	A	G25701949A	ATP10A	NM_024490.3(ATP10A):c.2727C>T:p.Asp909=	coding	Benign
15	25701952	G	A	G25701952A	ATP10A	NM_024490.3(ATP10A):c.2724C>T:p.His908=	coding	Benign
15	25714151	T	C	T25714151C	ATP10A	NM_024490.3(ATP10A):c.1867A>G:p.Ser623Gly	coding	Benign
15	25714241	C	T	C25714241T	ATP10A	NM_024490.3(ATP10A):c.1777G>A:p.Val593Met	coding	Benign
15	25716820	C	A	C25716820A	ATP10A	NM_024490.3(ATP10A):c.1686G>T:p.Ser562=	coding	Benign
15	25716853	C	T	C25716853T	ATP10A	NM_024490.3(ATP10A):c.1653G>A:p.Ala551=	coding	Benign
15	25716910	C	T	C25716910T	ATP10A	NM_024490.3(ATP10A):c.1596G>A:p.Thr532=	coding	Benign
15	25718236	G	A	G25718236A	ATP10A	NM_024490.3(ATP10A):c.1527C>T:p.Ala509=	coding	Benign
15	25718252	C	T	C25718252T	ATP10A	NM_024490.3(ATP10A):c.1511G>A:p.Arg504His	coding	Benign
15	25718337	C	T	C25718337T	ATP10A	NM_024490.3(ATP10A):c.1426G>A:p.Gly476Ser	coding	Benign
15	25721886	G	A	G25721886A	ATP10A	NM_024490.3(ATP10A):c.1134C>T:p.Tyr378=	coding	Benign
15	25721918	G	C	G25721918C	ATP10A	NM_024490.3(ATP10A):c.1111-9C>G	noncoding	Benign
15	25723894	C	T	C25723894T	ATP10A	NM_024490.3(ATP10A):c.1107G>A:p.Leu369=	coding	Benign
15	25723902	T	C	T25723902C	ATP10A	NM_024490.3(ATP10A):c.1099A>G:p.Ile367Val	coding	Benign
15	25726006	G	A	G25726006A	ATP10A	NM_024490.3(ATP10A):c.924C>T:p.Cys308=	coding	Benign
15	26547922	C	T	C26547922T	GABRB3	NM_000814.6(GABRB3):c.1293G>A:p.Arg431=	coding	Benign/Likely_benign
15	26560917	T	C	T26560917C	GABRB3	NM_000814.6(GABRB3):c.1080+15A>G	noncoding	Benign
15	26561007	G	A	G26561007A	GABRB3	NM_000814.6(GABRB3):c.1005C>T:p.Gly335=	coding	Benign
15	26561099	C	T	C26561099T	GABRB3	NM_000814.6(GABRB3):c.913G>A:p.Ala305Thr	coding	Pathogenic
15	26561107	T	C	T26561107C	GABRB3	NM_000814.6(GABRB3):c.905A>G:p.Tyr302Cys	coding	Pathogenic
15	26561512	G	A	G26561512A	GABRB3	NM_000814.6(GABRB3):c.836-336C>T	noncoding	Benign
15	26567387	G	A	G26567387A	GABRB3	NM_000814.6(GABRB3):c.835+194C>T	noncoding	Benign
15	26567428	G	A	G26567428A	GABRB3	NM_000814.6(GABRB3):c.835+153C>T	noncoding	Benign
15	26567633	C	T	C26567633T	GABRB3	NM_000814.6(GABRB3):c.783G>A:p.Ser261=	coding	Benign
15	26567659	G	T	G26567659T	GABRB3	NM_000814.6(GABRB3):c.757C>A:p.Pro253Thr	coding	Pathogenic/Likely_pathogenic
15	26567671	G	T	G26567671T	GABRB3	NM_000814.6(GABRB3):c.745C>A:p.Gln249Lys	coding	Pathogenic
15	26567721	C	T	C26567721T	GABRB3	NM_000814.6(GABRB3):c.695G>A:p.Arg232Gln	coding	Pathogenic/Likely_pathogenic
15	26567990	C	T	C26567990T	GABRB3	NM_000814.6(GABRB3):c.683-257G>A	noncoding	Benign
15	26580032	A	G	A26580032G	GABRB3	NM_000814.6(GABRB3):c.682+287T>C	noncoding	Benign
15	26580299	T	C	T26580299C	GABRB3	NM_000814.6(GABRB3):c.682+20A>G	noncoding	Benign/Likely_benign
15	26580398	G	A	G26580398A	GABRB3	NM_000814.6(GABRB3):c.603C>T:p.Thr201=	coding	Benign
15	26580456	T	A	T26580456A	GABRB3	NM_000814.6(GABRB3):c.545A>T:p.Tyr182Phe	coding	Pathogenic
15	26583372	G	T	G26583372T	GABRB3	NM_000814.6(GABRB3):c.504C>A:p.Tyr168Ter	coding	Pathogenic
15	26583504	G	A	G26583504A	GABRB3	NM_000814.6(GABRB3):c.462-90C>T	noncoding	Benign
15	26621417	C	T	C26621417T	GABRB3	NM_000814.6(GABRB3):c.358G>A:p.Asp120Asn	coding	Pathogenic
15	26621427	T	C	T26621427C	GABRB3	NM_000814.6(GABRB3):c.348A>G:p.Leu116=	coding	Benign
15	26621444	G	A	G26621444A	GABRB3	NM_000814.6(GABRB3):c.331C>T:p.Arg111Ter	coding	Pathogenic
15	26621591	C	T	C26621591T	GABRB3	NM_000814.6(GABRB3):c.241-57G>A	noncoding	Benign
15	26629248	T	C	T26629248C	GABRB3	NM_000814.6(GABRB3):c.241-7714A>G	noncoding	Benign
15	26629378	C	T	C26629378T	GABRB3	NM_000814.6(GABRB3):c.241-7844G>A	noncoding	Benign
15	26772106	G	T	G26772106T	GABRB3	NM_000814.6(GABRB3):c.240+296C>A	noncoding	Benign
15	26772389	G	A	G26772389A	GABRB3	NM_000814.6(GABRB3):c.240+13C>T	noncoding	Benign
15	26773635	C	T	C26773635T	GABRB3	NM_021912.5(GABRB3):c.80+10G>A	noncoding	Benign/Likely_benign
15	26773650	G	A	G26773650A	GABRB3	NM_021912.5(GABRB3):c.75C>T:p.Pro25=	coding	Benign
15	26883363	A	T	A26883363T	GABRA5	NM_000810.4(GABRA5):c.303A>T:p.Arg101=	coding	Benign
15	26937189	G	A	G26937189A	GABRA5	NM_000810.4(GABRA5):c.585G>A:p.Ala195=	coding	Benign
15	26937214	G	A	G26937214A	GABRA5	NM_000810.4(GABRA5):c.610G>A:p.Val204Ile	coding	Benign
15	26943217	G	C	G26943217C	GABRA5	NM_000810.4(GABRA5):c.880G>C:p.Val294Leu	coding	Pathogenic
15	26943217	G	T	G26943217T	GABRA5	NM_000810.4(GABRA5):c.880G>T:p.Val294Phe	coding	Pathogenic
15	26943354	C	T	C26943354T	GABRA5	NM_000810.4(GABRA5):c.1017C>T:p.Ala339=	coding	Benign
15	26948035	G	A	G26948035A	GABRA5	NM_000810.4(GABRA5):c.1191G>A:p.Thr397=	coding	Benign
15	26948082	C	T	C26948082T	GABRA5	NM_000810.4(GABRA5):c.1238C>T:p.Ser413Phe	coding	Pathogenic
15	26948185	G	A	G26948185A	GABRA5	NM_000810.4(GABRA5):c.1341G>A:p.Thr447=	coding	Benign
15	26977119	A	G	A26977119G	GABRG3	NM_033223.5(GABRG3):c.171A>G:p.Glu57=	coding	Benign
15	27026829	G	A	G27026829A	GABRG3	NM_033223.5(GABRG3):c.270+8G>A	noncoding	Benign
15	27480771	C	T	C27480771T	GABRG3	NM_033223.5(GABRG3):c.696C>T:p.Ile232=	coding	Benign
15	27520009	T	C	T27520009C	GABRG3	NM_033223.5(GABRG3):c.750T>C:p.Ser250=	coding	Benign
15	27532602	C	T	C27532602T	GABRG3	NM_033223.5(GABRG3):c.1125C>T:p.Asn375=	coding	Pathogenic
15	27755338	T	C	T27755338C	OCA2	NM_000275.3(OCA2):c.*50A>G	noncoding	Benign
15	27755405	C	T	C27755405T	OCA2	NM_000275.3(OCA2):c.2500G>A:p.Val834Met	coding	Benign
15	27844985	A	C	A27844985C	OCA2	NM_000275.3(OCA2):c.2406T>G:p.Tyr802Ter	coding	Pathogenic
15	27845027	C	T	C27845027T	OCA2	NM_000275.3(OCA2):c.2364G>A:p.Ser788=	coding	Benign
15	27845031	G	A	G27845031A	OCA2	NM_000275.3(OCA2):c.2360C>T:p.Ala787Val	coding	Pathogenic/Likely_pathogenic
15	27845032	C	T	C27845032T	OCA2	NM_000275.3(OCA2):c.2359G>A:p.Ala787Thr	coding	Pathogenic
15	27845052	C	T	C27845052T	OCA2	NM_000275.3(OCA2):c.2339G>A:p.Gly780Asp	coding	Pathogenic/Likely_pathogenic
15	27851380	A	C	A27851380C	OCA2	NM_000275.3(OCA2):c.2338+2T>G	noncoding	Pathogenic
15	27851392	A	G	A27851392G	OCA2	NM_000275.3(OCA2):c.2328T>C:p.Ala776=	coding	Benign
15	27851396	C	T	C27851396T	OCA2	NM_000275.3(OCA2):c.2324G>A:p.Gly775Asp	coding	Pathogenic
15	27871136	T	C	T27871136C	OCA2	NM_000275.3(OCA2):c.2244+18A>G	noncoding	Benign
15	27871170	G	A	G27871170A	OCA2	NM_000275.3(OCA2):c.2228C>T:p.Pro743Leu	coding	Pathogenic/Likely_pathogenic
15	27871190	C	T	C27871190T	OCA2	NM_000275.3(OCA2):c.2208G>A:p.Ser736=	coding	Benign
15	27871233	A	G	A27871233G	OCA2	NM_000275.3(OCA2):c.2165T>C:p.Ile722Thr	coding	Benign
15	27871923	C	T	C27871923T	OCA2	NM_000275.3(OCA2):c.2080-1G>A	coding	Pathogenic
15	27926148	T	G	T27926148G	OCA2	NM_000275.3(OCA2):c.2058A>C:p.Ala686=	coding	Benign
15	27926270	T	C	T27926270C	OCA2	NM_000275.3(OCA2):c.1952-16A>G	noncoding	Benign
15	27951848	C	A	C27951848A	OCA2	NM_000275.3(OCA2):c.1887G>T:p.Val629=	coding	Benign/Likely_benign
15	27951891	T	C	T27951891C	OCA2	NM_000275.3(OCA2):c.1844A>G:p.His615Arg	coding	Benign
15	27955157	C	A	C27955157A	OCA2	NM_000275.3(OCA2):c.1842+1G>T	noncoding	Pathogenic
15	27957620	G	A	G27957620A	OCA2	NM_000275.3(OCA2):c.1752C>T:p.His584=	coding	Benign
15	27957693	C	T	C27957693T	OCA2	NM_000275.3(OCA2):c.1679G>A:p.Arg560His	coding	Benign/Likely_benign
15	27966775	G	A	G27966775A	OCA2	NM_000275.3(OCA2):c.1551C>T:p.Cys517=	coding	Benign
15	27983340	C	T	C27983340T	OCA2	NM_000275.3(OCA2):c.1503+5G>A	noncoding	Pathogenic/Likely_pathogenic
15	27983383	T	C	T27983383C	OCA2	NM_000275.3(OCA2):c.1465A>G:p.Asn489Asp	coding	Pathogenic
15	27983421	T	C	T27983421C	OCA2	NM_000275.3(OCA2):c.1427A>G:p.Asn476Ser	coding	Pathogenic
15	27983498	G	A	G27983498A	OCA2	NM_000275.3(OCA2):c.1365-15C>T	noncoding	Benign
15	27985172	C	T	C27985172T	OCA2	NM_000275.3(OCA2):c.1256G>A:p.Arg419Gln	coding	Benign
15	27986647	T	C	T27986647C	OCA2	NM_000275.3(OCA2):c.1183-4A>G	noncoding	Benign
15	27989600	C	T	C27989600T	OCA2	NM_000275.3(OCA2):c.1182+1G>A	noncoding	Pathogenic
15	27989601	C	T	C27989601T	OCA2	NM_000275.3(OCA2):c.1182G>A:p.Met394Ile	coding	Pathogenic
15	27989623	G	A	G27989623A	OCA2	NM_000275.3(OCA2):c.1160C>T:p.Thr387Met	coding	Benign
15	27989649	A	G	A27989649G	OCA2	NM_000275.3(OCA2):c.1134T>C:p.His378=	coding	Benign
15	27990579	G	A	G27990579A	OCA2	NM_000275.3(OCA2):c.1113C>T:p.Gly371=	coding	Benign
15	27990627	C	T	C27990627T	OCA2	NM_000275.3(OCA2):c.1065G>A:p.Ala355=	coding	Benign
15	28014775	C	A	C28014775A	OCA2	NM_000275.3(OCA2):c.1044+1G>T	noncoding	Pathogenic
15	28014794	G	A	G28014794A	OCA2	NM_000275.3(OCA2):c.1026C>T:p.Tyr342=	coding	Benign/Likely_benign
15	28014813	G	A	G28014813A	OCA2	NM_000275.3(OCA2):c.1007C>T:p.Ala336Val	coding	Benign/Likely_benign
15	28014819	G	A	G28014819A	OCA2	NM_000275.3(OCA2):c.1001C>T:p.Ala334Val	coding	Pathogenic
15	28014907	G	A	G28014907A	OCA2	NM_000275.3(OCA2):c.913C>T:p.Arg305Trp	coding	Benign
15	28018396	C	A	C28018396A	OCA2	NM_000275.3(OCA2):c.807+1G>T	noncoding	Pathogenic
15	28018408	G	A	G28018408A	OCA2	NM_000275.3(OCA2):c.796C>T:p.Arg266Trp	coding	Benign/Likely_benign
15	28018482	G	C	G28018482C	OCA2	NM_000275.3(OCA2):c.722C>G:p.Pro241Arg	coding	Benign
15	28018493	C	T	C28018493T	OCA2	NM_000275.3(OCA2):c.711G>A:p.Val237=	coding	Benign
15	28018561	G	A	G28018561A	OCA2	NM_000275.3(OCA2):c.647-4C>T	noncoding	Benign
15	28113185	C	T	C28113185T	HERC2	NM_004667.6(HERC2):c.14118G>A:p.Glu4706=	coding	Benign
15	28124177	G	A	G28124177A	HERC2	NM_004667.6(HERC2):c.13048C>T:p.Leu4350=	coding	Benign
15	28130164	A	T	A28130164T	HERC2	NM_004667.5(HERC2):c.12801T>A:p.Asp4267Glu	coding	Benign
15	28130553	G	A	G28130553A	HERC2	NM_004667.6(HERC2):c.12612C>T:p.Cys4204=	coding	Benign
15	28132789	A	G	A28132789G	HERC2	NM_004667.6(HERC2):c.12272T>C:p.Ile4091Thr	coding	Benign
15	28135561	C	T	C28135561T	HERC2	NM_004667.6(HERC2):c.12147G>A:p.Lys4049=	coding	Benign
15	28141847	C	T	C28141847T	HERC2	NM_004667.6(HERC2):c.11701-1G>A	coding	Pathogenic
15	28152667	G	A	G28152667A	HERC2	NM_004667.6(HERC2):c.10900+10C>T	noncoding	Benign
15	28152722	G	A	G28152722A	HERC2	NM_004667.6(HERC2):c.10855C>T:p.Pro3619Ser	coding	Pathogenic
15	28163148	C	T	C28163148T	HERC2	NM_004667.6(HERC2):c.10692G>A:p.Arg3564=	coding	Benign
15	28167810	G	A	G28167810A	HERC2	NM_004667.6(HERC2):c.10431C>T:p.Asp3477=	coding	Benign
15	28168546	G	A	G28168546A	HERC2	NM_004667.5(HERC2):c.10274C>T:p.Pro3425Leu	coding	Benign/Likely_benign
15	28175633	A	T	A28175633T	HERC2	NM_004667.5(HERC2):c.9710T>A:p.Leu3237Ter	coding	Pathogenic
15	28175634	A	G	A28175634G	HERC2	NM_004667.6(HERC2):c.9709T>C:p.Leu3237=	coding	Benign
15	28177481	G	A	G28177481A	HERC2	NM_004667.6(HERC2):c.9192C>T:p.Val3064=	coding	Benign
15	28178939	C	T	C28178939T	HERC2	NM_004667.6(HERC2):c.9111G>A:p.Arg3037=	coding	Benign
15	28182440	C	T	C28182440T	HERC2	NM_004667.6(HERC2):c.8898G>A:p.Leu2966=	coding	Benign
15	28202136	C	T	C28202136T	HERC2	NM_004667.5(HERC2):c.7594G>A:p.Val2532Met	coding	Benign
15	28202416	A	G	A28202416G	HERC2	NM_004667.5(HERC2):c.7411T>C:p.Ser2471Pro	coding	Benign
15	28202511	G	T	G28202511T	HERC2	NM_004667.5(HERC2):c.7316C>A:p.Ala2439Asp	coding	Benign
15	28228240	C	A	C28228240A	HERC2	NM_004667.6(HERC2):c.5442G>T:p.Thr1814=	coding	Benign
15	28228291	G	A	G28228291A	HERC2	NM_004667.6(HERC2):c.5391C>T:p.His1797=	coding	Benign
15	28229540	G	C	G28229540C	HERC2	NM_004667.6(HERC2):c.5040C>G:p.Ser1680Arg	coding	Benign
15	28238168	C	T	C28238168T	HERC2	NM_004667.6(HERC2):c.3798G>A:p.Gln1266=	coding	Benign
15	28248591	A	G	A28248591G	HERC2	NM_004667.6(HERC2):c.3196T>C:p.Tyr1066His	coding	Benign
15	28257130	G	A	G28257130A	HERC2	NM_004667.6(HERC2):c.2448C>T:p.Ser816=	coding	Benign
15	28257189	T	C	T28257189C	HERC2	NM_004667.5(HERC2):c.2389A>G:p.Met797Val	coding	Benign/Likely_benign
15	28260829	A	G	A28260829G	HERC2	NM_004667.5(HERC2):c.2264T>C:p.Leu755Ser	coding	Pathogenic
15	28260840	T	C	T28260840C	HERC2	NM_004667.6(HERC2):c.2253A>G:p.Glu751=	coding	Benign
15	28265707	G	A	G28265707A	HERC2	NM_004667.5(HERC2):c.1781C>T:p.Pro594Leu	coding	Pathogenic
15	28269413	A	G	A28269413G	HERC2	NM_004667.6(HERC2):c.1281T>C:p.Gly427=	coding	Benign
15	28272372	G	C	G28272372C	HERC2	NM_004667.5(HERC2):c.926C>G:p.Ala309Gly	coding	Pathogenic
15	28272900	G	A	G28272900A	HERC2	NM_004667.5(HERC2):c.905C>T:p.Thr302Met	coding	Benign
15	28272990	G	A	G28272990A	HERC2	NM_004667.5(HERC2):c.815C>T:p.Thr272Met	coding	Benign
15	28274365	G	A	G28274365A	HERC2	NM_004667.6(HERC2):c.726C>T:p.Asp242=	coding	Benign
15	29053917	C	T	C29053917T	APBA2	NM_005503.3(APBA2):c.33C>T:p.Ser11=	coding	Benign
15	29054145	C	T	C29054145T	APBA2	NM_005503.3(APBA2):c.261C>T:p.Asp87=	coding	Benign
15	29054187	C	T	C29054187T	APBA2	NM_005503.3(APBA2):c.303C>T:p.Ile101=	coding	Benign
15	29054265	C	T	C29054265T	APBA2	NM_005503.3(APBA2):c.381C>T:p.His127=	coding	Benign
15	29054315	C	T	C29054315T	APBA2	NM_005503.3(APBA2):c.431C>T:p.Ser144Leu	coding	Benign
15	29054387	C	T	C29054387T	APBA2	NM_005503.3(APBA2):c.503C>T:p.Pro168Leu	coding	Benign
15	29054403	C	T	C29054403T	APBA2	NM_005503.3(APBA2):c.519C>T:p.Ser173=	coding	Benign
15	29054502	C	T	C29054502T	APBA2	NM_005503.3(APBA2):c.618C>T:p.Gly206=	coding	Benign
15	29076066	G	A	G29076066A	APBA2	NM_005503.3(APBA2):c.1044G>A:p.Val348=	coding	Benign
15	29094269	T	C	T29094269C	APBA2	NM_005503.3(APBA2):c.1216-9T>C	noncoding	Benign
15	29105390	C	T	C29105390T	APBA2	NM_005503.3(APBA2):c.1536C>T:p.Ile512=	coding	Benign
15	29106598	C	T	C29106598T	APBA2	NM_005503.3(APBA2):c.1705-9C>T	noncoding	Benign
15	29106717	G	A	G29106717A	APBA2	NM_005503.3(APBA2):c.1815G>A:p.Pro605=	coding	Benign/Likely_benign
15	29106787	C	T	C29106787T	APBA2	NM_005503.3(APBA2):c.1885C>T:p.Leu629=	coding	Benign
15	29114007	G	A	G29114007A	APBA2	NM_005503.3(APBA2):c.2169G>A:p.Ser723=	coding	Benign
15	29268916	G	A	G29268916A	NSMCE3	NM_138704.4(NSMCE3):c.790C>T:p.Leu264Phe	coding	Pathogenic
15	29268942	T	A	T29268942A	NSMCE3	NM_138704.4(NSMCE3):c.764A>T:p.Asn255Ile	coding	Benign
15	29269080	G	A	G29269080A	NSMCE3	NM_138704.4(NSMCE3):c.626C>T:p.Pro209Leu	coding	Pathogenic
15	29269211	G	C	G29269211C	NSMCE3	NM_138704.4(NSMCE3):c.495C>G:p.Ala165=	coding	Benign
15	29718913	G	T	G29718913T	TJP1	NM_003257.5(TJP1):c.3229C>A:p.Arg1077Ser	coding	Benign
15	29718927	C	T	C29718927T	TJP1	NM_003257.5(TJP1):c.3215G>A:p.Arg1072Gln	coding	Benign
15	29719847	C	T	C29719847T	TJP1	NM_175610.4(TJP1):c.2763+511G>A	coding	Benign
15	29734378	T	C	T29734378C	TJP1	NM_003257.5(TJP1):c.1412A>G:p.Asn471Ser	coding	Benign
15	30093429	A	C	A30093429C	GOLGA8J	NM_001282472.1(GOLGA8J):c.1829A>C:p.His610Pro	coding	Benign
15	30904989	T	C	T30904989C	FAN1	NM_014967.5(FAN1):c.326T>C:p.Leu109Ser	coding	Benign
15	30905220	C	A	C30905220A	FAN1	NM_014967.5(FAN1):c.557C>A:p.Ser186Tyr	coding	Benign
15	30905361	G	A	G30905361A	FAN1	NM_014967.5(FAN1):c.698G>A:p.Gly233Glu	coding	Benign
15	30905765	C	T	C30905765T	FAN1	NM_014967.5(FAN1):c.1102C>T:p.Gln368Ter	coding	Pathogenic
15	30905840	A	G	A30905840G	FAN1	NM_014967.5(FAN1):c.1177A>G:p.Met393Val	coding	Benign
15	30905899	T	A	T30905899A	FAN1	NM_014967.5(FAN1):c.1234+2T>A	noncoding	Pathogenic
15	30908193	A	G	A30908193G	FAN1	NM_014967.5(FAN1):c.1310A>G:p.Glu437Gly	coding	Benign
15	30908259	G	A	G30908259A	FAN1	NM_014967.5(FAN1):c.1375+1G>A	coding	Pathogenic
15	30913966	C	T	C30913966T	FAN1	NM_014967.5(FAN1):c.1686C>T:p.Asp562=	coding	Benign
15	30914097	A	G	A30914097G	FAN1	NM_014967.5(FAN1):c.1811+6A>G	noncoding	Benign
15	30914100	A	T	A30914100T	FAN1	NM_014967.5(FAN1):c.1811+9A>T	noncoding	Benign
15	30920541	T	C	T30920541C	FAN1	NM_014967.5(FAN1):c.1944-4T>C	noncoding	Benign
15	30922302	G	A	G30922302A	FAN1	NM_014967.5(FAN1):c.2120G>A:p.Trp707Ter	coding	Pathogenic
15	30925199	C	T	C30925199T	FAN1	NM_014967.5(FAN1):c.2245C>T:p.Arg749Ter	coding	Pathogenic
15	30925854	C	T	C30925854T	FAN1	NM_014967.5(FAN1):c.2403C>T:p.Ala801=	coding	Benign
15	30925864	G	A	G30925864A	FAN1	NM_014967.5(FAN1):c.2413G>A:p.Ala805Thr	coding	Benign
15	30925869	C	T	C30925869T	FAN1	NM_014967.5(FAN1):c.2418C>T:p.Asp806=	coding	Benign
15	30925878	G	A	G30925878A	FAN1	NM_014967.5(FAN1):c.2427G>A:p.Thr809=	coding	Benign
15	30930564	G	C	G30930564C	FAN1	NM_014967.5(FAN1):c.2809G>C:p.Gly937Arg	coding	Pathogenic
15	30930617	T	C	T30930617C	FAN1	NM_014967.5(FAN1):c.2862T>C:p.Cys954=	coding	Benign
15	30937112	T	G	T30937112G	FAN1	NM_014967.5(FAN1):c.2917-7T>G	noncoding	Benign
15	30937217	T	C	T30937217C	FAN1	NM_014967.5(FAN1):c.3015T>C:p.His1005=	coding	Benign
15	31001099	A	G	A31001099G	TRPM1	NM_001252024.2(TRPM1):c.*723T>C	noncoding	Benign
15	31001251	C	T	C31001251T	TRPM1	NM_001252024.2(TRPM1):c.*571G>A	noncoding	Benign
15	31001273	A	G	A31001273G	TRPM1	NM_001252024.2(TRPM1):c.*549T>C	noncoding	Benign
15	31001571	T	C	T31001571C	TRPM1	NM_001252024.2(TRPM1):c.*251A>G	noncoding	Benign
15	31001888	C	G	C31001888G	TRPM1	NM_001252024.2(TRPM1):c.4812G>C:p.Val1604=	coding	Benign
15	31001956	C	T	C31001956T	TRPM1	NM_001252024.2(TRPM1):c.4744G>A:p.Val1582Met	coding	Benign
15	31002140	A	T	A31002140T	TRPM1	NM_001252024.2(TRPM1):c.4560T>A:p.His1520Gln	coding	Benign
15	31002248	C	T	C31002248T	TRPM1	NM_001252024.2(TRPM1):c.4452G>A:p.Thr1484=	coding	Benign
15	31002370	G	A	G31002370A	TRPM1	NM_001252024.2(TRPM1):c.4330C>T:p.Arg1444Cys	coding	Benign/Likely_benign
15	31002370	G	C	G31002370C	TRPM1	NM_001252024.2(TRPM1):c.4330C>G:p.Arg1444Gly	coding	Benign
15	31002451	C	T	C31002451T	TRPM1	NM_001252024.2(TRPM1):c.4249G>A:p.Val1417Ile	coding	Benign
15	31002499	G	T	G31002499T	TRPM1	NM_001252024.2(TRPM1):c.4201C>A:p.Pro1401Thr	coding	Benign
15	31002511	C	A	C31002511A	TRPM1	NM_001252024.2(TRPM1):c.4189G>T:p.Glu1397Ter	coding	Benign
15	31002693	G	A	G31002693A	TRPM1	NM_001252024.2(TRPM1):c.4007C>T:p.Thr1336Met	coding	Benign
15	31002720	C	T	C31002720T	TRPM1	NM_001252024.2(TRPM1):c.3980G>A:p.Arg1327His	coding	Benign
15	31002762	G	A	G31002762A	TRPM1	NM_001252024.2(TRPM1):c.3938C>T:p.Thr1313Met	coding	Benign
15	31002793	C	T	C31002793T	TRPM1	NM_001252024.2(TRPM1):c.3907G>A:p.Glu1303Lys	coding	Benign
15	31002948	T	G	T31002948G	TRPM1	NM_001252024.2(TRPM1):c.3752A>C:p.Asn1251Thr	coding	Benign
15	31026967	G	A	G31026967A	TRPM1	NM_001252024.2(TRPM1):c.3444C>T:p.Gly1148=	coding	Benign
15	31028454	A	T	A31028454T	TRPM1	NM_001252024.2(TRPM1):c.3171T>A:p.Tyr1057Ter	coding	Pathogenic
15	31031093	C	T	C31031093T	TRPM1	NM_001252024.2(TRPM1):c.3017G>A:p.Arg1006His	coding	Pathogenic
15	31031122	C	T	C31031122T	TRPM1	NM_001252024.2(TRPM1):c.2988G>A:p.Leu996=	coding	Benign
15	31032881	G	C	G31032881C	TRPM1	NM_001252024.2(TRPM1):c.2760C>G:p.Tyr920Ter	coding	Pathogenic
15	31032930	G	T	G31032930T	TRPM1	NM_001252024.2(TRPM1):c.2711C>A:p.Ser904Ter	coding	Pathogenic
15	31035551	G	A	G31035551A	TRPM1	NM_001252024.2(TRPM1):c.2695C>T:p.Arg899Ter	coding	Pathogenic/Likely_pathogenic
15	31035613	C	T	C31035613T	TRPM1	NM_001252024.2(TRPM1):c.2633G>A:p.Trp878Ter	coding	Pathogenic
15	31035615	G	C	G31035615C	TRPM1	NM_001252024.2(TRPM1):c.2631C>G:p.Gly877=	coding	Benign/Likely_benign
15	31037741	G	A	G31037741A	TRPM1	NM_001252024.2(TRPM1):c.2541C>T:p.Asn847=	coding	Benign
15	31038077	A	G	A31038077G	TRPM1	NM_001252024.2(TRPM1):c.2406T>C:p.Asn802=	coding	Benign
15	31038110	A	G	A31038110G	TRPM1	NM_001252024.2(TRPM1):c.2373T>C:p.Tyr791=	coding	Benign
15	31040285	C	G	C31040285G	TRPM1	NM_001252024.2(TRPM1):c.2149G>C:p.Ala717Pro	coding	Benign/Likely_benign
15	31042072	G	A	G31042072A	TRPM1	NM_001252024.2(TRPM1):c.1966C>T:p.Arg656Ter	coding	Pathogenic
15	31042159	C	T	C31042159T	TRPM1	NM_001252024.2(TRPM1):c.1879G>A:p.Val627Met	coding	Benign
15	31047102	G	C	G31047102C	TRPM1	NM_001252024.2(TRPM1):c.1764+9C>G	noncoding	Benign
15	31047231	G	A	G31047231A	TRPM1	NM_001252024.2(TRPM1):c.1644C>T:p.Tyr548=	coding	Benign
15	31047949	A	G	A31047949G	TRPM1	NM_001252024.2(TRPM1):c.1573-10T>C	noncoding	Benign/Likely_benign
15	31049361	T	C	T31049361C	TRPM1	NM_001252024.2(TRPM1):c.1572+14A>G	noncoding	Benign
15	31050504	C	T	C31050504T	TRPM1	NM_001252024.2(TRPM1):c.1342G>A:p.Gly448Arg	coding	Benign
15	31050541	C	T	C31050541T	TRPM1	NM_001252024.2(TRPM1):c.1305G>A:p.Thr435=	coding	Benign
15	31060546	G	T	G31060546T	TRPM1	NM_001252024.2(TRPM1):c.1261C>A:p.Pro421Thr	coding	Benign
15	31060579	G	A	G31060579A	TRPM1	NM_001252024.2(TRPM1):c.1228C>T:p.Arg410Ter	coding	Pathogenic
15	31063137	T	A	T31063137A	TRPM1	NM_001252024.2(TRPM1):c.946A>T:p.Lys316Ter	coding	Pathogenic
15	31066137	G	A	G31066137A	TRPM1	NM_001252024.2(TRPM1):c.729C>T:p.Gly243=	coding	Benign
15	31067066	C	T	C31067066T	TRPM1	NM_001252024.2(TRPM1):c.615G>A:p.Lys205=	coding	Benign/Likely_benign
15	31067188	C	G	C31067188G	TRPM1	NM_001252024.2(TRPM1):c.494-1G>C	coding	Pathogenic
15	31068010	A	G	A31068010G	TRPM1	NM_001252024.2(TRPM1):c.362T>C:p.Leu121Pro	coding	Pathogenic
15	31068091	T	C	T31068091C	TRPM1	NM_001252024.2(TRPM1):c.281A>G:p.Tyr94Cys	coding	Pathogenic
15	31070076	A	G	A31070076G	TRPM1	NM_001252024.2(TRPM1):c.234T>C:p.Tyr78=	coding	Benign
15	31070149	C	T	C31070149T	TRPM1	NM_001252024.2(TRPM1):c.161G>A:p.Ser54Asn	coding	Benign
15	31070213	G	A	G31070213A	TRPM1	NM_001252024.2(TRPM1):c.97C>T:p.Gln33Ter	coding	Pathogenic
15	31076920	A	G	A31076920G	TRPM1	NM_001252024.2(TRPM1):c.68T>C:p.Met23Thr	coding	Benign
15	31327239	C	T	C31327239T	KLF13	NM_015995.4(KLF13):c.27C>T:p.His9=	coding	Benign
15	31327731	C	T	C31327731T	KLF13	NM_015995.4(KLF13):c.519C>T:p.Gly173=	coding	Benign
15	31372194	G	A	G31372194A	KLF13	NM_015995.4(KLF13):c.762G>A:p.Pro254=	coding	Benign
15	31527264	G	A	G31527264A	OTUD7A	NM_001382637.1(OTUD7A):c.697C>T:p.Leu233Phe	coding	Pathogenic
15	32030639	G	A	G32030639A	CHRNA7	NM_000746.6(CHRNA7):c.45G>A:p.Ser15=	coding	Benign
15	32111781	G	A	G32111781A	CHRNA7	NM_000746.6(CHRNA7):c.241-9G>A	noncoding	Benign
15	32111789	G	A	G32111789A	CHRNA7	NM_000746.6(CHRNA7):c.241-1G>A	noncoding	Pathogenic
15	32158511	A	G	A32158511G	CHRNA7	NM_000746.6(CHRNA7):c.698A>G:p.Tyr233Cys	coding	Benign
15	32624202	A	G	A32624202G	ARHGAP11A	NM_014783.6(ARHGAP11A):c.327A>G:p.Leu109=	coding	Benign
15	32629642	A	G	A32629642G	ARHGAP11A	NM_014783.6(ARHGAP11A):c.985A>G:p.Thr329Ala	coding	Benign
15	32629654	G	C	G32629654C	ARHGAP11A	NM_014783.6(ARHGAP11A):c.997G>C:p.Asp333His	coding	Benign
15	32629755	G	A	G32629755A	ARHGAP11A	NM_014783.6(ARHGAP11A):c.1098G>A:p.Pro366=	coding	Benign
15	32633073	G	A	G32633073A	ARHGAP11A	NM_014783.6(ARHGAP11A):c.1200G>A:p.Arg400=	coding	Benign
15	32633113	T	G	T32633113G	ARHGAP11A	NM_014783.6(ARHGAP11A):c.1235+5T>G	noncoding	Benign
15	32637482	G	A	G32637482A	ARHGAP11A	NM_014783.6(ARHGAP11A):c.2709G>A:p.Gln903=	coding	Benign
15	32637707	C	T	C32637707T	ARHGAP11A	NM_014783.6(ARHGAP11A):c.2934C>T:p.Asn978=	coding	Benign
15	32730897	C	G	C32730897G	GREM1	NM_013372.7(GREM1):c.207C>G:p.Pro69=	coding	Benign
15	32857061	C	T	C32857061T	FMN1	NM_001277313.2(FMN1):c.3882G>A:p.Glu1294=	coding	Benign
15	32857087	C	T	C32857087T	FMN1	NM_001277313.2(FMN1):c.3856G>A:p.Val1286Met	coding	Benign
15	32898822	A	G	A32898822G	FMN1	NM_001277313.2(FMN1):c.3714+12T>C	noncoding	Benign
15	32898840	A	G	A32898840G	FMN1	NM_001277313.2(FMN1):c.3708T>C:p.Tyr1236=	coding	Benign
15	32964244	G	A	G32964244A	FMN1	NM_001277313.2(FMN1):c.3001C>T:p.Pro1001Ser	coding	Benign/Likely_benign
15	32968772	C	T	C32968772T	FMN1	NM_001277313.2(FMN1):c.2929G>A:p.Glu977Lys	coding	Benign
15	32968875	A	C	A32968875C	FMN1	NM_001277313.2(FMN1):c.2826T>G:p.Pro942=	coding	Benign
15	32968949	T	C	T32968949C	FMN1	NM_001277313.2(FMN1):c.2752A>G:p.Ser918Gly	coding	Benign
15	32968983	C	T	C32968983T	FMN1	NM_001277313.2(FMN1):c.2718G>A:p.Pro906=	coding	Benign
15	32968984	G	A	G32968984A	FMN1	NM_001277313.2(FMN1):c.2717C>T:p.Pro906Leu	coding	Benign
15	32969004	A	G	A32969004G	FMN1	NM_001277313.2(FMN1):c.2697T>C:p.Ala899=	coding	Benign
15	32969049	T	C	T32969049C	FMN1	NM_001277313.2(FMN1):c.2652A>G:p.Gly884=	coding	Benign
15	32969087	G	A	G32969087A	FMN1	NM_001277313.2(FMN1):c.2614C>T:p.Pro872Ser	coding	Benign
15	32969165	C	T	C32969165T	FMN1	NM_001277313.2(FMN1):c.2536G>A:p.Asp846Asn	coding	Benign
15	32969239	T	C	T32969239C	FMN1	NM_001277313.2(FMN1):c.2462A>G:p.Lys821Arg	coding	Benign
15	32969327	C	T	C32969327T	FMN1	NM_001277313.2(FMN1):c.2374G>A:p.Asp792Asn	coding	Benign
15	33065045	G	A	G33065045A	FMN1	NM_001277313.2(FMN1):c.2073C>T:p.Asp691=	coding	Benign
15	33066535	C	T	C33066535T	FMN1	NM_001277313.2(FMN1):c.2044-1461G>A	coding	Benign
15	33066652	C	G	C33066652G	FMN1	NM_001277313.2(FMN1):c.2044-1578G>C	coding	Benign
15	33066757	G	A	G33066757A	FMN1	NM_001277313.2(FMN1):c.2044-1683C>T	coding	Benign
15	33066892	T	C	T33066892C	FMN1	NM_001277313.2(FMN1):c.2044-1818A>G	coding	Benign
15	33067693	G	A	G33067693A	FMN1	NM_001277313.2(FMN1):c.2044-2619C>T	coding	Benign
15	33067749	C	G	C33067749G	FMN1	NM_001277313.2(FMN1):c.2044-2675G>C	coding	Benign
15	33153228	A	G	A33153228G	FMN1	NM_001277313.2(FMN1):c.1687T>C:p.Ser563Pro	coding	Benign
15	33153237	G	A	G33153237A	FMN1	NM_001277313.2(FMN1):c.1678C>T:p.Arg560Cys	coding	Benign
15	33153249	A	C	A33153249C	FMN1	NM_001277313.2(FMN1):c.1666T>G:p.Cys556Gly	coding	Benign
15	33153350	G	A	G33153350A	FMN1	NM_001277313.2(FMN1):c.1565C>T:p.Ser522Leu	coding	Benign
15	33153959	C	T	C33153959T	FMN1	NM_001277313.2(FMN1):c.956G>A:p.Arg319Gln	coding	Benign
15	33154770	T	C	T33154770C	FMN1	NM_001277313.2(FMN1):c.145A>G:p.Asn49Asp	coding	Benign
15	33154823	C	G	C33154823G	FMN1	NM_001277313.2(FMN1):c.92G>C:p.Gly31Ala	coding	Benign
15	33473445	C	A	C33473445A	RYR3	NM_001036.5(RYR3):c.78C>A:p.Ile26=	coding	Benign
15	33530585	C	G	C33530585G	RYR3	NM_001036.5(RYR3):c.280-7C>G	noncoding	Benign
15	33539345	T	C	T33539345C	RYR3	NM_001036.5(RYR3):c.434-5T>C	noncoding	Benign
15	33550199	A	T	A33550199T	RYR3	NM_001036.5(RYR3):c.855A>T:p.Arg285=	coding	Benign
15	33562937	T	C	T33562937C	RYR3	NM_001036.5(RYR3):c.1073T>C:p.Ile358Thr	coding	Benign
15	33562974	C	T	C33562974T	RYR3	NM_001036.5(RYR3):c.1110C>T:p.Asp370=	coding	Benign
15	33563010	G	A	G33563010A	RYR3	NM_001036.5(RYR3):c.1146G>A:p.Lys382=	coding	Benign
15	33563013	G	T	G33563013T	RYR3	NM_001036.5(RYR3):c.1146+3G>T	noncoding	Benign
15	33579984	A	G	A33579984G	RYR3	NM_001036.5(RYR3):c.1277A>G:p.Asn426Ser	coding	Benign
15	33580002	T	G	T33580002G	RYR3	NM_001036.5(RYR3):c.1295T>G:p.Ile432Ser	coding	Benign
15	33580152	G	A	G33580152A	RYR3	NM_001036.5(RYR3):c.1437+8G>A	noncoding	Benign
15	33586126	G	C	G33586126C	RYR3	NM_001036.5(RYR3):c.1788+10G>C	noncoding	Benign
15	33601458	G	A	G33601458A	RYR3	NM_001036.5(RYR3):c.1828G>A:p.Val610Ile	coding	Benign
15	33601470	G	A	G33601470A	RYR3	NM_001036.5(RYR3):c.1840G>A:p.Ala614Thr	coding	Benign
15	33603372	C	T	C33603372T	RYR3	NM_001036.5(RYR3):c.2164+8C>T	noncoding	Benign
15	33613232	G	A	G33613232A	RYR3	NM_001036.5(RYR3):c.2214G>A:p.Ser738=	coding	Benign
15	33613319	G	A	G33613319A	RYR3	NM_001036.5(RYR3):c.2301G>A:p.Glu767=	coding	Benign
15	33623951	T	A	T33623951A	RYR3	NM_001036.5(RYR3):c.2502T>A:p.Ile834=	coding	Benign
15	33624026	A	C	A33624026C	RYR3	NM_001036.5(RYR3):c.2574+3A>C	noncoding	Benign
15	33629953	A	G	A33629953G	RYR3	NM_001036.5(RYR3):c.2693A>G:p.Asn898Ser	coding	Benign
15	33631200	T	G	T33631200G	RYR3	NM_001036.5(RYR3):c.2784-10T>G	noncoding	Benign
15	33635786	C	T	C33635786T	RYR3	NM_001036.5(RYR3):c.3348C>T:p.Ala1116=	coding	Benign
15	33644304	T	G	T33644304G	RYR3	NM_001036.5(RYR3):c.3557-7T>G	noncoding	Benign
15	33652871	C	T	C33652871T	RYR3	NM_001036.5(RYR3):c.4296C>T:p.Gly1432=	coding	Benign/Likely_benign
15	33652891	C	T	C33652891T	RYR3	NM_001036.5(RYR3):c.4308+8C>T	noncoding	Benign
15	33660187	C	T	C33660187T	RYR3	NM_001036.5(RYR3):c.4396-10C>T	noncoding	Benign
15	33660269	C	T	C33660269T	RYR3	NM_001036.5(RYR3):c.4468C>T:p.Leu1490=	coding	Benign
15	33660274	C	T	C33660274T	RYR3	NM_001036.5(RYR3):c.4473C>T:p.Asp1491=	coding	Benign
15	33660322	C	T	C33660322T	RYR3	NM_001036.5(RYR3):c.4521C>T:p.Phe1507=	coding	Benign
15	33660412	C	T	C33660412T	RYR3	NM_001036.5(RYR3):c.4611C>T:p.Pro1537=	coding	Benign
15	33660437	C	T	C33660437T	RYR3	NM_001036.5(RYR3):c.4622+14C>T	noncoding	Benign
15	33662222	C	T	C33662222T	RYR3	NM_001036.5(RYR3):c.4692C>T:p.Leu1564=	coding	Benign
15	33662231	G	A	G33662231A	RYR3	NM_001036.5(RYR3):c.4701G>A:p.Ala1567=	coding	Benign
15	33662351	T	C	T33662351C	RYR3	NM_001036.5(RYR3):c.4821T>C:p.Tyr1607=	coding	Benign
15	33662501	G	A	G33662501A	RYR3	NM_001036.5(RYR3):c.4971G>A:p.Leu1657=	coding	Benign
15	33662563	A	G	A33662563G	RYR3	NM_001036.5(RYR3):c.5033A>G:p.Asp1678Gly	coding	Benign
15	33662829	G	A	G33662829A	RYR3	NM_001036.5(RYR3):c.5299G>A:p.Glu1767Lys	coding	Benign
15	33663529	C	G	C33663529G	RYR3	NM_001036.5(RYR3):c.5419-8C>G	noncoding	Benign
15	33663602	A	G	A33663602G	RYR3	NM_001036.5(RYR3):c.5484A>G:p.Ala1828=	coding	Benign
15	33669349	C	G	C33669349G	RYR3	NM_001036.5(RYR3):c.5620-5C>G	noncoding	Benign
15	33696316	C	A	C33696316A	RYR3	NM_001036.5(RYR3):c.5959C>A:p.Arg1987=	coding	Benign
15	33696482	A	G	A33696482G	RYR3	NM_001036.5(RYR3):c.6125A>G:p.Asn2042Ser	coding	Benign/Likely_benign
15	33696500	T	C	T33696500C	RYR3	NM_001036.5(RYR3):c.6134+9T>C	noncoding	Benign
15	33701041	T	C	T33701041C	RYR3	NM_001036.5(RYR3):c.6444T>C:p.Asn2148=	coding	Benign
15	33706911	T	A	T33706911A	RYR3	NM_001036.5(RYR3):c.6484-8T>A	noncoding	Benign
15	33707052	A	C	A33707052C	RYR3	NM_001036.5(RYR3):c.6617A>C:p.Asn2206Thr	coding	Benign
15	33726433	G	C	G33726433C	RYR3	NM_001036.5(RYR3):c.6960G>C:p.Leu2320=	coding	Benign
15	33728885	G	A	G33728885A	RYR3	NM_001036.5(RYR3):c.7062G>A:p.Ala2354=	coding	Benign
15	33738442	C	T	C33738442T	RYR3	NM_001036.5(RYR3):c.7516-8C>T	noncoding	Benign
15	33738515	C	T	C33738515T	RYR3	NM_001036.5(RYR3):c.7581C>T:p.Tyr2527=	coding	Benign
15	33738566	G	T	G33738566T	RYR3	NM_001036.5(RYR3):c.7632G>T:p.Gly2544=	coding	Benign
15	33739864	G	A	G33739864A	RYR3	NM_001036.5(RYR3):c.7689G>A:p.Leu2563=	coding	Benign
15	33742372	C	G	C33742372G	RYR3	NM_001036.5(RYR3):c.7827C>G:p.Ser2609=	coding	Benign
15	33748241	G	T	G33748241T	RYR3	NM_001036.5(RYR3):c.8117G>T:p.Ser2706Ile	coding	Benign
15	33748269	C	G	C33748269G	RYR3	NM_001036.5(RYR3):c.8136+9C>G	noncoding	Benign
15	33750191	A	G	A33750191G	RYR3	NM_001036.5(RYR3):c.8304A>G:p.Pro2768=	coding	Benign
15	33755060	C	T	C33755060T	RYR3	NM_001036.5(RYR3):c.8400-5C>T	noncoding	Benign
15	33755146	C	T	C33755146T	RYR3	NM_001036.5(RYR3):c.8481C>T:p.Tyr2827=	coding	Benign
15	33756345	G	A	G33756345A	RYR3	NM_001036.5(RYR3):c.8555G>A:p.Arg2852His	coding	Benign
15	33757532	T	A	T33757532A	RYR3	NM_001036.5(RYR3):c.8641T>A:p.Ser2881Thr	coding	Benign
15	33772100	C	T	C33772100T	RYR3	NM_001036.5(RYR3):c.8997C>T:p.Pro2999=	coding	Benign
15	33772101	A	G	A33772101G	RYR3	NM_001036.5(RYR3):c.8998A>G:p.Ile3000Val	coding	Benign
15	33780216	G	T	G33780216T	RYR3	NM_001036.5(RYR3):c.9143G>T:p.Arg3048Leu	coding	Benign
15	33780327	C	G	C33780327G	RYR3	NM_001036.5(RYR3):c.9254C>G:p.Pro3085Arg	coding	Benign
15	33788314	C	T	C33788314T	RYR3	NM_001036.5(RYR3):c.9686C>T:p.Thr3229Met	coding	Benign
15	33788387	C	T	C33788387T	RYR3	NM_001036.5(RYR3):c.9759C>T:p.Asp3253=	coding	Benign
15	33788444	C	T	C33788444T	RYR3	NM_001036.5(RYR3):c.9816C>T:p.Tyr3272=	coding	Benign
15	33800762	G	C	G33800762C	RYR3	NM_001036.5(RYR3):c.9831-8G>C	noncoding	Benign
15	33800812	C	G	C33800812G	RYR3	NM_001036.5(RYR3):c.9873C>G:p.Leu3291=	coding	Benign
15	33810659	C	T	C33810659T	RYR3	NM_001036.5(RYR3):c.10197+10C>T	noncoding	Benign
15	33812883	A	G	A33812883G	RYR3	NM_001036.5(RYR3):c.10278A>G:p.Lys3426=	coding	Benign
15	33816928	C	A	C33816928A	RYR3	NM_001036.5(RYR3):c.10569C>A:p.Ser3523=	coding	Benign
15	33818676	G	A	G33818676A	RYR3	NM_001036.5(RYR3):c.10698G>A:p.Thr3566=	coding	Benign
15	33819768	C	T	C33819768T	RYR3	NM_001036.5(RYR3):c.10719C>T:p.Asp3573=	coding	Benign
15	33820748	A	G	A33820748G	RYR3	NM_001036.5(RYR3):c.10759-8A>G	noncoding	Benign
15	33821261	T	C	T33821261C	RYR3	NM_001036.5(RYR3):c.10816-9T>C	noncoding	Benign
15	33821528	A	G	A33821528G	RYR3	NM_001036.5(RYR3):c.10921A>G:p.Met3641Val	coding	Benign
15	33825595	A	G	A33825595G	RYR3	NM_001036.5(RYR3):c.11073-8A>G	noncoding	Benign
15	33826703	G	A	G33826703A	RYR3	NM_001036.5(RYR3):c.11196G>A:p.Thr3732=	coding	Benign
15	33827242	C	T	C33827242T	RYR3	NM_001036.5(RYR3):c.11289C>T:p.Thr3763=	coding	Benign
15	33834960	C	A	C33834960A	RYR3	NM_001036.5(RYR3):c.11464-8C>A	noncoding	Benign
15	33835049	A	C	A33835049C	RYR3	NM_001036.5(RYR3):c.11545A>C:p.Asn3849His	coding	Benign
15	33838109	T	C	T33838109C	RYR3	NM_001036.5(RYR3):c.12129T>C:p.Arg4043=	coding	Benign
15	33838496	G	C	G33838496C	RYR3	NM_001036.5(RYR3):c.12516G>C:p.Val4172=	coding	Benign
15	33838538	C	G	C33838538G	RYR3	NM_001036.5(RYR3):c.12558C>G:p.Ser4186=	coding	Benign
15	33841977	C	T	C33841977T	RYR3	NM_001036.5(RYR3):c.13151C>T:p.Pro4384Leu	coding	Benign
15	33841993	C	T	C33841993T	RYR3	NM_001036.5(RYR3):c.13167C>T:p.Ala4389=	coding	Benign
15	33841994	A	G	A33841994G	RYR3	NM_001036.5(RYR3):c.13168A>G:p.Asn4390Asp	coding	Benign
15	33844930	G	A	G33844930A	RYR3	NM_001036.5(RYR3):c.13365G>A:p.Glu4455=	coding	Benign
15	33845068	C	T	C33845068T	RYR3	NM_001036.5(RYR3):c.13497+6C>T	noncoding	Benign
15	33854843	A	G	A33854843G	RYR3	NM_001036.5(RYR3):c.13938A>G:p.Leu4646=	coding	Benign
15	33857882	G	A	G33857882A	RYR3	NM_001036.5(RYR3):c.14110G>A:p.Glu4704Lys	coding	Benign
15	33857890	T	C	T33857890C	RYR3	NM_001036.5(RYR3):c.14118T>C:p.Asp4706=	coding	Benign
15	33859700	C	T	C33859700T	RYR3	NM_001036.5(RYR3):c.14268C>T:p.Phe4756=	coding	Benign
15	33861083	A	G	A33861083G	RYR3	NM_001036.5(RYR3):c.14370A>G:p.Lys4790=	coding	Benign
15	33866065	A	G	A33866065G	RYR3	NM_001036.5(RYR3):c.*839A>G	noncoding	Benign
15	34063290	C	T	C34063290T	CHRM5	NM_012125.4(CHRM5):c.573C>T:p.Pro191=	coding	Benign
15	34063951	G	A	G34063951A	CHRM5	NM_012125.4(CHRM5):c.1234G>A:p.Glu412Lys	coding	Benign
15	34101726	C	T	C34101726T	EMC7	NM_020154.3(EMC7):c.114G>A:p.Gly38=	coding	Benign
15	34230213	A	T	A34230213T	SLC12A6	NM_001365088.1(SLC12A6):c.*3668T>A	noncoding	Benign
15	34230356	G	A	G34230356A	SLC12A6	NM_001365088.1(SLC12A6):c.*3525C>T	noncoding	Benign
15	34230478	C	T	C34230478T	SLC12A6	NM_001365088.1(SLC12A6):c.*3403G>A	noncoding	Benign
15	34230784	C	G	C34230784G	SLC12A6	NM_001365088.1(SLC12A6):c.*3097G>C	noncoding	Benign
15	34231512	G	A	G34231512A	SLC12A6	NM_001365088.1(SLC12A6):c.*2369C>T	noncoding	Benign
15	34232035	G	C	G34232035C	SLC12A6	NM_001365088.1(SLC12A6):c.*1846C>G	noncoding	Benign
15	34232156	C	T	C34232156T	SLC12A6	NM_001365088.1(SLC12A6):c.*1725G>A	noncoding	Benign
15	34232783	C	T	C34232783T	SLC12A6	NM_001365088.1(SLC12A6):c.*1098G>A	noncoding	Benign
15	34232794	G	T	G34232794T	SLC12A6	NM_001365088.1(SLC12A6):c.*1087C>A	noncoding	Benign
15	34232834	T	C	T34232834C	SLC12A6	NM_001365088.1(SLC12A6):c.*1047A>G	noncoding	Benign
15	34233057	A	G	A34233057G	SLC12A6	NM_001365088.1(SLC12A6):c.*824T>C	noncoding	Benign
15	34233387	T	C	T34233387C	SLC12A6	NM_001365088.1(SLC12A6):c.*494A>G	noncoding	Benign
15	34234884	C	A	C34234884A	SLC12A6	NM_001365088.1(SLC12A6):c.3361+297G>T	noncoding	Benign
15	34236122	G	A	G34236122A	SLC12A6	NM_001365088.1(SLC12A6):c.3120C>T:p.Thr1040=	coding	Benign
15	34236387	G	T	G34236387T	SLC12A6	NM_001365088.1(SLC12A6):c.3043-188C>A	noncoding	Benign
15	34236700	T	C	T34236700C	SLC12A6	NM_001365088.1(SLC12A6):c.3042+8A>G	noncoding	Benign/Likely_benign
15	34236719	G	A	G34236719A	SLC12A6	NM_001365088.1(SLC12A6):c.3031C>T:p.Arg1011Ter	coding	Pathogenic
15	34236747	G	A	G34236747A	SLC12A6	NM_001365088.1(SLC12A6):c.3003C>T:p.Leu1001=	coding	Benign
15	34236767	C	A	C34236767A	SLC12A6	NM_001365088.1(SLC12A6):c.2983G>T:p.Glu995Ter	coding	Pathogenic
15	34236822	T	C	T34236822C	SLC12A6	NM_001365088.1(SLC12A6):c.2935-7A>G	noncoding	Benign
15	34237076	T	C	T34237076C	SLC12A6	NM_001365088.1(SLC12A6):c.2935-261A>G	noncoding	Benign
15	34237407	C	G	C34237407G	SLC12A6	NM_001365088.1(SLC12A6):c.2934+12G>C	noncoding	Benign
15	34237428	C	T	C34237428T	SLC12A6	NM_001365088.1(SLC12A6):c.2925G>A:p.Val975=	coding	Benign
15	34241779	T	C	T34241779C	SLC12A6	NM_001365088.1(SLC12A6):c.2162+323A>G	noncoding	Benign
15	34242158	A	G	A34242158G	SLC12A6	NM_001365088.1(SLC12A6):c.2106T>C:p.Tyr702=	coding	Benign/Likely_benign
15	34242522	A	G	A34242522G	SLC12A6	NM_001365088.1(SLC12A6):c.2043-301T>C	noncoding	Benign
15	34243889	C	T	C34243889T	SLC12A6	NM_001365088.1(SLC12A6):c.2042+85G>A	noncoding	Benign
15	34243993	G	A	G34243993A	SLC12A6	NM_001365088.1(SLC12A6):c.2023C>T:p.Arg675Ter	coding	Pathogenic
15	34245234	C	T	C34245234T	SLC12A6	NM_001365088.1(SLC12A6):c.1943+51G>A	noncoding	Benign
15	34245416	G	A	G34245416A	SLC12A6	NM_001365088.1(SLC12A6):c.1825-13C>T	noncoding	Benign
15	34245765	T	G	T34245765G	SLC12A6	NM_001365088.1(SLC12A6):c.1752A>C:p.Gly584=	coding	Benign
15	34250315	C	T	C34250315T	SLC12A6	NM_001365088.1(SLC12A6):c.1632G>A:p.Gly544=	coding	Benign
15	34250405	T	C	T34250405C	SLC12A6	NM_001365088.1(SLC12A6):c.1592-50A>G	noncoding	Benign
15	34250529	T	C	T34250529C	SLC12A6	NM_001365088.1(SLC12A6):c.1591+102A>G	noncoding	Benign
15	34250538	G	C	G34250538C	SLC12A6	NM_001365088.1(SLC12A6):c.1591+93C>G	noncoding	Benign
15	34250671	C	G	C34250671G	SLC12A6	NM_001365088.1(SLC12A6):c.1551G>C:p.Pro517=	coding	Benign
15	34250854	G	A	G34250854A	SLC12A6	NM_001365088.1(SLC12A6):c.1492+45C>T	noncoding	Benign
15	34250979	C	G	C34250979G	SLC12A6	NM_001365088.1(SLC12A6):c.1412G>C:p.Ser471Thr	coding	Benign/Likely_benign
15	34251989	T	G	T34251989G	SLC12A6	NM_001365088.1(SLC12A6):c.1333+181A>C	noncoding	Benign
15	34252150	C	A	C34252150A	SLC12A6	NM_001365088.1(SLC12A6):c.1333+20G>T	noncoding	Benign
15	34252219	G	A	G34252219A	SLC12A6	NM_001365088.1(SLC12A6):c.1284C>T:p.Asn428=	coding	Benign
15	34252234	G	A	G34252234A	SLC12A6	NM_001365088.1(SLC12A6):c.1269C>T:p.Tyr423=	coding	Benign
15	34252267	C	T	C34252267T	SLC12A6	NM_001365088.1(SLC12A6):c.1236G>A:p.Ser412=	coding	Benign
15	34252651	A	T	A34252651T	SLC12A6	NM_001365088.1(SLC12A6):c.1119-267T>A	noncoding	Benign
15	34254058	A	G	A34254058G	SLC12A6	NM_001365088.1(SLC12A6):c.1118+290T>C	noncoding	Benign
15	34254233	T	C	T34254233C	SLC12A6	NM_001365088.1(SLC12A6):c.1118+115A>G	noncoding	Benign
15	34254250	G	C	G34254250C	SLC12A6	NM_001365088.1(SLC12A6):c.1118+98C>G	noncoding	Benign
15	34254347	C	T	C34254347T	SLC12A6	NM_001365088.1(SLC12A6):c.1118+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	34254503	G	A	G34254503A	SLC12A6	NM_001365088.1(SLC12A6):c.963C>T:p.Tyr321=	coding	Benign
15	34256228	C	A	C34256228A	SLC12A6	NM_001365088.1(SLC12A6):c.745+1G>T	noncoding	Pathogenic
15	34257917	C	T	C34257917T	SLC12A6	NM_001365088.1(SLC12A6):c.544-129G>A	noncoding	Benign
15	34258828	T	C	T34258828C	SLC12A6	NM_001365088.1(SLC12A6):c.528A>G:p.Lys176=	coding	Benign/Likely_benign
15	34258881	G	A	G34258881A	SLC12A6	NM_001365088.1(SLC12A6):c.475C>T:p.Leu159=	coding	Benign
15	34260929	A	G	A34260929G	SLC12A6	NM_001365088.1(SLC12A6):c.408T>C:p.Phe136=	coding	Benign/Likely_benign
15	34260958	C	A	C34260958A	SLC12A6	NM_001365088.1(SLC12A6):c.379G>T:p.Glu127Ter	coding	Pathogenic
15	34261000	G	A	G34261000A	SLC12A6	NM_001365088.1(SLC12A6):c.337C>T:p.Arg113Ter	coding	Pathogenic
15	34261018	C	T	C34261018T	SLC12A6	NM_001365088.1(SLC12A6):c.319G>A:p.Asp107Asn	coding	Benign
15	34261019	G	A	G34261019A	SLC12A6	NM_001365088.1(SLC12A6):c.318C>T:p.Asp106=	coding	Benign/Likely_benign
15	34275141	T	C	T34275141C	SLC12A6	NM_001365088.1(SLC12A6):c.316+204A>G	noncoding	Benign
15	34275270	A	C	A34275270C	SLC12A6	NM_001365088.1(SLC12A6):c.316+75T>G	noncoding	Benign
15	34336121	T	C	T34336121C	SLC12A6	NM_001365088.1(SLC12A6):c.271+289A>G	noncoding	Benign
15	34336823	C	T	C34336823T	SLC12A6;NOP10	NM_001365088.1(SLC12A6):c.-72-71G>A	noncoding	Benign/Likely_benign
15	34336895	T	A	T34336895A	SLC12A6	NM_001365088.1(SLC12A6):c.-72-143A>T	noncoding	Benign
15	34336966	G	A	G34336966A	SLC12A6	NM_001365088.1(SLC12A6):c.-72-214C>T	noncoding	Benign
15	34341819	C	T	C34341819T	NOP10;SLC12A6	NM_018648.3(NOP10):c.*149G>A	noncoding	Benign/Likely_benign
15	34341832	A	G	A34341832G	SLC12A6;NOP10	NM_018648.3(NOP10):c.*136T>C	noncoding	Benign/Likely_benign
15	34341839	C	T	C34341839T	NOP10;SLC12A6	NM_018648.3(NOP10):c.*129G>A	noncoding	Benign/Likely_benign
15	34341923	C	G	C34341923G	NOP10	NM_018648.3(NOP10):c.*45G>C	noncoding	Benign
15	34341937	G	A	G34341937A	NOP10	NM_018648.3(NOP10):c.*31C>T	noncoding	Benign
15	34341938	T	C	T34341938C	NOP10	NM_018648.3(NOP10):c.*30A>G	noncoding	Benign
15	34342063	G	A	G34342063A	NOP10	NM_018648.3(NOP10):c.100C>T:p.Arg34Trp	coding	Pathogenic
15	34342118	G	T	G34342118T	NOP10	NM_018648.3(NOP10):c.55-10C>A	noncoding	Benign
15	34342123	C	G	C34342123G	NOP10	NM_018648.4(NOP10):c.55-15G>C	noncoding	Benign
15	34343040	C	G	C34343040G	NOP10	NM_018648.3(NOP10):c.34G>C:p.Asp12His	coding	Benign/Likely_benign
15	34343662	G	C	G34343662C	NOP10	NM_001284292.2(NUTM1):c.-35G>C	coding	Benign
15	34356535	C	T	C34356535T	NUTM1	NM_001284292.2(NUTM1):c.2527C>T:p.Pro843Ser	coding	Benign
15	34531704	A	G	A34531704G	GOLGA8B	NM_001023567.5(GOLGA8B):c.325-9T>C	noncoding	Benign
15	34753049	C	G	C34753049G	GJD2	NM_020660.3(GJD2):c.395G>C:p.Gly132Ala	coding	Benign
15	34788322	T	C	T34788322C	ACTC1	NM_005159.4(ACTC1):c.*2090A>G	noncoding	Benign
15	34788730	T	C	T34788730C	ACTC1	NM_005159.4(ACTC1):c.*1682A>G	noncoding	Benign
15	34788967	G	C	G34788967C	ACTC1	NM_005159.4(ACTC1):c.*1445C>G	noncoding	Benign
15	34789373	C	T	C34789373T	ACTC1	NM_005159.4(ACTC1):c.*1039G>A	noncoding	Benign
15	34789537	C	G	C34789537G	ACTC1	NM_005159.4(ACTC1):c.*875G>C	noncoding	Benign/Likely_benign
15	34789940	A	G	A34789940G	ACTC1	NM_005159.4(ACTC1):c.*472T>C	noncoding	Benign
15	34790024	C	T	C34790024T	ACTC1	NM_005159.4(ACTC1):c.*388G>A	noncoding	Benign
15	34790143	G	A	G34790143A	ACTC1	NM_005159.4(ACTC1):c.*269C>T	noncoding	Benign/Likely_benign
15	34790454	G	A	G34790454A	ACTC1	NM_005159.5(ACTC1):c.1092C>T:p.Tyr364=	coding	Benign/Likely_benign
15	34790458	T	C	T34790458C	ACTC1	NM_005159.5(ACTC1):c.1088A>G:p.Glu363Gly	coding	Pathogenic
15	34790549	C	G	C34790549G	ACTC1	NM_005159.5(ACTC1):c.997G>C:p.Ala333Pro	coding	Pathogenic
15	34790878	G	A	G34790878A	ACTC1	NM_005159.5(ACTC1):c.990+236C>T	noncoding	Benign
15	34791177	A	G	A34791177G	ACTC1	NM_005159.5(ACTC1):c.927T>C:p.Pro309=	coding	Benign/Likely_benign
15	34791215	C	A	C34791215A	ACTC1	NM_005159.5(ACTC1):c.889G>T:p.Ala297Ser	coding	Pathogenic
15	34791599	C	T	C34791599T	ACTC1	NM_005159.5(ACTC1):c.809-304G>A	noncoding	Benign
15	34791905	T	C	T34791905C	ACTC1	NM_005159.5(ACTC1):c.808+185A>G	noncoding	Benign
15	34791921	C	T	C34791921T	ACTC1	NM_005159.5(ACTC1):c.808+169G>A	noncoding	Benign
15	34792511	G	A	G34792511A	ACTC1	NM_005159.5(ACTC1):c.513C>T:p.Tyr171=	coding	Benign/Likely_benign
15	34792528	G	C	G34792528C	ACTC1	NM_005159.5(ACTC1):c.496C>G:p.Pro166Ala	coding	Pathogenic
15	34792812	T	A	T34792812A	ACTC1	NM_005159.5(ACTC1):c.455-243A>T	noncoding	Benign
15	34793000	C	T	C34793000T	ACTC1	NM_005159.5(ACTC1):c.454+245G>A	noncoding	Benign
15	34793236	C	T	C34793236T	ACTC1	NM_005159.5(ACTC1):c.454+9G>A	noncoding	Benign/Likely_benign
15	34793326	T	C	T34793326C	ACTC1	NM_005159.5(ACTC1):c.373A>G:p.Met125Val	coding	Pathogenic
15	34793398	C	T	C34793398T	ACTC1	NM_005159.5(ACTC1):c.301G>A:p.Glu101Lys	coding	Pathogenic/Likely_pathogenic
15	34793480	G	A	G34793480A	ACTC1	NM_005159.5(ACTC1):c.219C>T:p.Ile73=	coding	Benign/Likely_benign
15	34793696	C	G	C34793696G	ACTC1	NM_005159.5(ACTC1):c.130-127G>C	noncoding	Benign
15	34794361	A	C	A34794361C	ACTC1	NM_005159.5(ACTC1):c.129+319T>G	noncoding	Benign
15	34794562	C	T	C34794562T	ACTC1	NM_005159.5(ACTC1):c.129+118G>A	noncoding	Benign
15	34794648	G	T	G34794648T	ACTC1	NM_005159.5(ACTC1):c.129+32C>A	noncoding	Benign/Likely_benign
15	34794845	G	C	G34794845C	ACTC1	NM_005159.5(ACTC1):c.-22-15C>G	noncoding	Benign/Likely_benign
15	34795042	T	A	T34795042A	ACTC1	NM_005159.5(ACTC1):c.-22-212A>T	noncoding	Benign
15	34795540	A	G	A34795540G	ACTC1	NM_005159.5(ACTC1):c.-57T>C	noncoding	Benign
15	35538464	C	T	C35538464T	DPH6	NM_080650.4(DPH6):c.122G>A:p.Gly41Glu	coding	Benign
15	36645204	G	T	G36645204T	CDIN1	NM_001321759.2(CDIN1):c.148-19G>T	noncoding	Benign
15	36654102	C	G	C36654102G	CDIN1	NM_001321759.2(CDIN1):c.217C>G:p.Leu73Val	coding	Benign
15	36691761	T	C	T36691761C	CDIN1	NM_001321759.2(CDIN1):c.423T>C:p.Tyr141=	coding	Benign
15	36697377	C	T	C36697377T	CDIN1	NM_001321759.2(CDIN1):c.531C>T:p.Asn177=	coding	Benign
15	36896688	T	C	T36896688C	MEIS2	NM_170675.5(MEIS2):c.978-2A>G	noncoding	Pathogenic
15	37083793	G	A	G37083793A	MEIS2	NM_170675.5(MEIS2):c.732C>T:p.Ser244=	coding	Benign
15	37093590	G	A	G37093590A	MEIS2	NM_170675.5(MEIS2):c.630C>T:p.Leu210=	coding	Benign
15	37093609	G	C	G37093609C	MEIS2	NM_170675.5(MEIS2):c.611C>G:p.Ser204Ter	coding	Pathogenic
15	37093713	A	G	A37093713G	MEIS2	NM_170675.5(MEIS2):c.507T>C:p.Asp169=	coding	Benign
15	37095578	C	A	C37095578A	MEIS2	NM_170675.5(MEIS2):c.424G>T:p.Glu142Ter	coding	Pathogenic
15	38252942	T	C	T38252942C	SPRED1	NM_152594.3(SPRED1):c.-244T>C	noncoding	Benign
15	38253093	C	T	C38253093T	SPRED1	NM_152594.3(SPRED1):c.-93C>T	noncoding	Benign
15	38253186	A	G	A38253186G	SPRED1	NM_152594.3(SPRED1):c.1A>G:p.Met1Val	coding	Pathogenic
15	38253237	C	T	C38253237T	SPRED1	NM_152594.3(SPRED1):c.32+20C>T	noncoding	Benign
15	38253524	A	C	A38253524C	SPRED1	NM_152594.3(SPRED1):c.32+307A>C	noncoding	Benign
15	38299099	A	G	A38299099G	SPRED1	NM_152594.3(SPRED1):c.33-274A>G	noncoding	Benign
15	38299386	C	T	C38299386T	SPRED1	NM_152594.3(SPRED1):c.46C>T:p.Arg16Ter	coding	Pathogenic
15	38299392	C	T	C38299392T	SPRED1	NM_152594.3(SPRED1):c.52C>T:p.Arg18Ter	coding	Pathogenic
15	38299410	C	T	C38299410T	SPRED1	NM_152594.3(SPRED1):c.70C>T:p.Arg24Ter	coding	Pathogenic
15	38299443	G	T	G38299443T	SPRED1	NM_152594.3(SPRED1):c.103G>T:p.Gly35Ter	coding	Pathogenic
15	38299471	T	A	T38299471A	SPRED1	NM_152594.3(SPRED1):c.131T>A:p.Val44Asp	coding	Pathogenic
15	38299530	C	T	C38299530T	SPRED1	NM_152594.3(SPRED1):c.190C>T:p.Arg64Ter	coding	Pathogenic
15	38322223	G	A	G38322223A	SPRED1	NM_152594.3(SPRED1):c.208-18G>A	noncoding	Benign
15	38322324	G	A	G38322324A	SPRED1	NM_152594.3(SPRED1):c.291G>A:p.Lys97=	coding	Benign
15	38322382	C	T	C38322382T	SPRED1	NM_152594.3(SPRED1):c.349C>T:p.Arg117Ter	coding	Pathogenic
15	38324444	T	C	T38324444C	SPRED1	NM_152594.3(SPRED1):c.377-319T>C	noncoding	Benign
15	38324614	G	A	G38324614A	SPRED1	NM_152594.3(SPRED1):c.377-149G>A	noncoding	Benign
15	38324807	C	T	C38324807T	SPRED1	NM_152594.3(SPRED1):c.421C>T:p.Gln141Ter	coding	Pathogenic
15	38324810	G	A	G38324810A	SPRED1	NM_152594.3(SPRED1):c.423+1G>A	coding	Pathogenic
15	38324811	T	C	T38324811C	SPRED1	NM_152594.3(SPRED1):c.423+2T>C	noncoding	Pathogenic
15	38324912	C	T	C38324912T	SPRED1	NM_152594.3(SPRED1):c.423+103C>T	noncoding	Benign
15	38324914	C	G	C38324914G	SPRED1	NM_152594.3(SPRED1):c.423+105C>G	noncoding	Benign
15	38339639	T	C	T38339639C	SPRED1	NM_152594.3(SPRED1):c.424-98T>C	noncoding	Benign
15	38339719	G	A	G38339719A	SPRED1	NM_152594.3(SPRED1):c.424-18G>A	noncoding	Benign
15	38339729	C	A	C38339729A	SPRED1	NM_152594.3(SPRED1):c.424-8C>A	noncoding	Benign
15	38339759	G	A	G38339759A	SPRED1	NM_152594.3(SPRED1):c.446G>A:p.Ser149Asn	coding	Benign
15	38339947	A	G	A38339947G	SPRED1	NM_152594.3(SPRED1):c.582+52A>G	noncoding	Benign
15	38349415	A	G	A38349415G	SPRED1	NM_152594.3(SPRED1):c.583-7A>G	noncoding	Benign/Likely_benign
15	38349458	A	T	A38349458T	SPRED1	NM_152594.3(SPRED1):c.619A>T:p.Arg207Ter	coding	Pathogenic
15	38349476	C	T	C38349476T	SPRED1	NM_152594.3(SPRED1):c.637C>T:p.Gln213Ter	coding	Pathogenic
15	38349482	C	T	C38349482T	SPRED1	NM_152594.3(SPRED1):c.643C>T:p.Gln215Ter	coding	Pathogenic
15	38349514	C	T	C38349514T	SPRED1	NM_152594.3(SPRED1):c.675C>T:p.Ser225=	coding	Benign/Likely_benign
15	38349515	C	T	C38349515T	SPRED1	NM_152594.3(SPRED1):c.676C>T:p.Gln226Ter	coding	Pathogenic
15	38349690	A	G	A38349690G	SPRED1	NM_152594.3(SPRED1):c.684+167A>G	noncoding	Benign
15	38350770	G	C	G38350770C	SPRED1	NM_152594.3(SPRED1):c.685-244G>C	noncoding	Benign
15	38350808	G	A	G38350808A	SPRED1	NM_152594.3(SPRED1):c.685-206G>A	noncoding	Benign
15	38350830	C	T	C38350830T	SPRED1	NM_152594.3(SPRED1):c.685-184C>T	noncoding	Benign
15	38351113	A	T	A38351113T	SPRED1	NM_152594.3(SPRED1):c.784A>T:p.Arg262Ter	coding	Pathogenic
15	38351129	G	A	G38351129A	SPRED1	NM_152594.3(SPRED1):c.800G>A:p.Trp267Ter	coding	Pathogenic
15	38351208	G	A	G38351208A	SPRED1	NM_152594.3(SPRED1):c.879G>A:p.Leu293=	coding	Benign/Likely_benign
15	38351268	G	A	G38351268A	SPRED1	NM_152594.3(SPRED1):c.939G>A:p.Thr313=	coding	Benign/Likely_benign
15	38351302	C	T	C38351302T	SPRED1	NM_152594.3(SPRED1):c.973C>T:p.Arg325Ter	coding	Pathogenic
15	38351344	C	T	C38351344T	SPRED1	NM_152594.3(SPRED1):c.1015C>T:p.Gln339Ter	coding	Pathogenic
15	38351373	T	C	T38351373C	SPRED1	NM_152594.3(SPRED1):c.1044T>C:p.Val348=	coding	Benign
15	38351912	T	C	T38351912C	SPRED1	NM_152594.3(SPRED1):c.*248T>C	noncoding	Benign
15	38351920	C	T	C38351920T	SPRED1	NM_152594.3(SPRED1):c.*256C>T	noncoding	Benign
15	38352091	A	T	A38352091T	SPRED1	NM_152594.3(SPRED1):c.*427A>T	noncoding	Benign
15	38353388	A	C	A38353388C	SPRED1	NM_152594.3(SPRED1):c.*1724A>C	noncoding	Benign
15	38354406	G	T	G38354406T	SPRED1	NM_152594.3(SPRED1):c.*2742G>T	noncoding	Benign
15	38354495	G	A	G38354495A	SPRED1	NM_152594.3(SPRED1):c.*2831G>A	noncoding	Benign
15	38355362	T	G	T38355362G	SPRED1	NM_152594.3(SPRED1):c.*3698T>G	noncoding	Benign
15	38355494	G	A	G38355494A	SPRED1	NM_152594.3(SPRED1):c.*3830G>A	noncoding	Benign
15	38355610	G	A	G38355610A	SPRED1	NM_152594.3(SPRED1):c.*3946G>A	noncoding	Benign
15	38355660	G	A	G38355660A	SPRED1	NM_152594.3(SPRED1):c.*3996G>A	noncoding	Benign
15	38356326	T	A	T38356326A	SPRED1	NM_152594.3(SPRED1):c.*4662T>A	noncoding	Benign
15	38356596	A	G	A38356596G	SPRED1	NM_152594.3(SPRED1):c.*4932A>G	noncoding	Benign
15	38356774	C	T	C38356774T	SPRED1	NM_152594.3(SPRED1):c.*5110C>T	noncoding	Benign
15	38357062	G	T	G38357062T	SPRED1	NM_152594.3(SPRED1):c.*5398G>T	noncoding	Benign
15	38501278	G	A	G38501278A	RASGRP1	NM_005739.4(RASGRP1):c.1548C>T:p.Leu516=	coding	Benign
15	38511606	T	A	T38511606A	RASGRP1	NM_005739.4(RASGRP1):c.964A>T:p.Lys322Ter	coding	Pathogenic
15	38512861	C	T	C38512861T	RASGRP1	NM_005739.4(RASGRP1):c.771G>A:p.Trp257Ter	coding	Pathogenic
15	38512896	G	A	G38512896A	RASGRP1	NM_005739.4(RASGRP1):c.736C>T:p.Arg246Ter	coding	Pathogenic
15	38516231	G	A	G38516231A	RASGRP1	NM_005739.4(RASGRP1):c.641C>T:p.Thr214Ile	coding	Pathogenic
15	38518323	A	T	A38518323T	RASGRP1	NM_005739.4(RASGRP1):c.490T>A:p.Leu164Ile	coding	Benign
15	38519362	A	G	A38519362G	RASGRP1	NM_005739.4(RASGRP1):c.336T>C:p.Asp112=	coding	Benign
15	38564617	C	T	C38564617T	RASGRP1	NM_005739.4(RASGRP1):c.12G>A:p.Leu4=	coding	Benign
15	39581891	C	T	C39581891T	THBS1	NM_003246.4(THBS1):c.34C>T:p.Leu12=	coding	Benign
15	39582200	C	T	C39582200T	THBS1	NM_003246.4(THBS1):c.75C>T:p.Gly25=	coding	Benign
15	39582707	C	T	C39582707T	THBS1	NM_003246.4(THBS1):c.582C>T:p.Ile194=	coding	Benign
15	39583664	C	T	C39583664T	THBS1	NM_003246.4(THBS1):c.675C>T:p.Asp225=	coding	Benign
15	39587516	G	A	G39587516A	THBS1	NM_003246.4(THBS1):c.1290G>A:p.Lys430=	coding	Benign
15	39588157	C	T	C39588157T	THBS1	NM_003246.4(THBS1):c.1410C>T:p.Asn470=	coding	Benign
15	39588617	C	T	C39588617T	THBS1	NM_003246.4(THBS1):c.1563C>T:p.Asn521=	coding	Benign
15	39588621	A	G	A39588621G	THBS1	NM_003246.4(THBS1):c.1567A>G:p.Thr523Ala	coding	Benign
15	39593100	T	C	T39593100C	THBS1	NM_003246.4(THBS1):c.2868T>C:p.Asp956=	coding	Benign
15	39593425	C	T	C39593425T	THBS1	NM_003246.4(THBS1):c.3024C>T:p.Phe1008=	coding	Benign
15	39594182	G	A	G39594182A	THBS1	NM_003246.4(THBS1):c.3351G>A:p.Lys1117=	coding	Benign
15	39713530	T	A	T39713530A	FSIP1	NM_152597.5(FSIP1):c.1102A>T:p.Ile368Leu	coding	Benign
15	39770624	C	A	C39770624A	FSIP1	NM_152597.5(FSIP1):c.127-14G>T	noncoding	Benign
15	39934093	A	G	A39934093G	EIF2AK4	NC_000015.10:g.39934093A>G	noncoding	Benign
15	39934294	T	C	T39934294C	EIF2AK4	NM_001013703.4(EIF2AK4):c.99T>C:p.Ile33=	coding	Benign
15	39939299	A	G	A39939299G	EIF2AK4	NM_001013703.4(EIF2AK4):c.145-206A>G	noncoding	Benign
15	39939424	A	T	A39939424T	EIF2AK4	NM_001013703.4(EIF2AK4):c.145-81A>T	noncoding	Benign
15	39939503	A	G	A39939503G	EIF2AK4	NM_001013703.4(EIF2AK4):c.145-2A>G	noncoding	Pathogenic
15	39939800	C	A	C39939800A	EIF2AK4	NM_001013703.4(EIF2AK4):c.257+183C>A	noncoding	Benign
15	39953725	G	A	G39953725A	EIF2AK4	NM_001013703.4(EIF2AK4):c.514-179G>A	noncoding	Benign
15	39955488	A	G	A39955488G	EIF2AK4	NM_001013703.4(EIF2AK4):c.595-132A>G	noncoding	Benign
15	39961473	G	A	G39961473A	EIF2AK4	NM_001013703.4(EIF2AK4):c.744-311G>A	noncoding	Benign
15	39961522	C	G	C39961522G	EIF2AK4	NM_001013703.4(EIF2AK4):c.744-262C>G	noncoding	Benign
15	39961542	G	T	G39961542T	EIF2AK4	NM_001013703.4(EIF2AK4):c.744-242G>T	noncoding	Benign
15	39961618	C	T	C39961618T	EIF2AK4	NM_001013703.4(EIF2AK4):c.744-166C>T	noncoding	Benign
15	39961685	G	A	G39961685A	EIF2AK4	NM_001013703.4(EIF2AK4):c.744-99G>A	noncoding	Benign
15	39961785	C	T	C39961785T	EIF2AK4	NM_001013703.4(EIF2AK4):c.745C>T:p.Arg249Ter	coding	Pathogenic
15	39961906	A	G	A39961906G	EIF2AK4	NM_001013703.4(EIF2AK4):c.859+7A>G	noncoding	Benign
15	39961954	A	G	A39961954G	EIF2AK4	NM_001013703.4(EIF2AK4):c.859+55A>G	noncoding	Benign
15	39962131	T	C	T39962131C	EIF2AK4	NM_001013703.4(EIF2AK4):c.859+232T>C	noncoding	Benign
15	39965685	G	A	G39965685A	EIF2AK4	NM_001013703.4(EIF2AK4):c.860-1G>A	noncoding	Pathogenic
15	39967303	G	A	G39967303A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1018-41G>A	noncoding	Benign
15	39967647	A	C	A39967647C	EIF2AK4	NM_001013703.4(EIF2AK4):c.1321A>C:p.Ile441Leu	coding	Benign
15	39967713	C	T	C39967713T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1387C>T:p.Arg463Ter	coding	Pathogenic
15	39967801	G	A	G39967801A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1475G>A:p.Ser492Asn	coding	Benign
15	39972904	C	A	C39972904A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1554-4C>A	noncoding	Pathogenic
15	39973026	A	T	A39973026T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1660+12A>T	noncoding	Benign
15	39973203	T	C	T39973203C	EIF2AK4	NM_001013703.4(EIF2AK4):c.1660+189T>C	noncoding	Benign
15	39973598	A	G	A39973598G	EIF2AK4	NM_001013703.4(EIF2AK4):c.1667A>G:p.Glu556Gly	coding	Benign
15	39973685	G	A	G39973685A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1754G>A:p.Arg585Gln	coding	Pathogenic
15	39976523	T	G	T39976523G	EIF2AK4	NM_001013703.4(EIF2AK4):c.1928T>G:p.Leu643Arg	coding	Pathogenic
15	39976615	C	T	C39976615T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2020C>T:p.Pro674Ser	coding	Benign
15	39976653	G	A	G39976653A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2058G>A:p.Pro686=	coding	Benign
15	39976851	G	A	G39976851A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2249+7G>A	noncoding	Benign
15	39977845	C	T	C39977845T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2250-233C>T	noncoding	Benign
15	39977846	A	G	A39977846G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2250-232A>G	noncoding	Benign
15	39978013	A	G	A39978013G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2250-65A>G	noncoding	Benign
15	39978148	G	A	G39978148A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2319+1G>A	coding	Pathogenic
15	39985801	T	G	T39985801G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2320-4T>G	noncoding	Benign/Likely_benign
15	39985991	T	C	T39985991C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2403+103T>C	noncoding	Benign
15	39988037	C	T	C39988037T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2458C>T:p.Arg820Ter	coding	Pathogenic
15	39988338	G	A	G39988338A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2526+233G>A	noncoding	Benign
15	39990424	T	C	T39990424C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2631+47T>C	noncoding	Benign
15	39990500	T	C	T39990500C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2631+123T>C	noncoding	Benign
15	39992007	T	A	T39992007A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2632-168T>A	noncoding	Benign
15	39992205	G	C	G39992205C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2662G>C:p.Asp888His	coding	Benign/Likely_benign
15	39992322	C	T	C39992322T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2686+93C>T	noncoding	Benign
15	39992601	C	T	C39992601T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2687-168C>T	noncoding	Benign
15	39992919	A	G	A39992919G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2766+71A>G	noncoding	Benign
15	39997054	C	T	C39997054T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2857C>T:p.Gln953Ter	coding	Pathogenic
15	39998939	C	T	C39998939T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2922+155C>T	noncoding	Benign
15	40001162	C	T	C40001162T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3097C>T:p.Gln1033Ter	coding	Pathogenic
15	40001212	C	T	C40001212T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3147C>T:p.Ser1049=	coding	Benign
15	40001224	G	A	G40001224A	EIF2AK4	NM_001013703.4(EIF2AK4):c.3159G>A:p.Lys1053=	coding	Pathogenic
15	40002705	T	C	T40002705C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3160-8T>C	noncoding	Benign
15	40002728	C	T	C40002728T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3175C>T:p.Arg1059Cys	coding	Benign
15	40003201	C	T	C40003201T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3244C>T:p.Gln1082Ter	coding	Pathogenic
15	40003301	C	T	C40003301T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3344C>T:p.Pro1115Leu	coding	Pathogenic
15	40007064	C	T	C40007064T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3406C>T:p.Arg1136Ter	coding	Pathogenic
15	40007891	T	C	T40007891C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3408-136T>C	noncoding	Benign
15	40008013	G	C	G40008013C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3408-14G>C	noncoding	Benign
15	40008067	C	T	C40008067T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3448C>T:p.Arg1150Ter	coding	Pathogenic
15	40008196	G	T	G40008196T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3576+1G>T	coding	Pathogenic
15	40016508	C	T	C40016508T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3766C>T:p.Arg1256Ter	coding	Pathogenic
15	40016544	C	T	C40016544T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3802C>T:p.Gln1268Ter	coding	Pathogenic
15	40016658	G	T	G40016658T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3916G>T:p.Gly1306Cys	coding	Benign
15	40017243	G	C	G40017243C	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+1G>C	coding	Pathogenic
15	40020882	G	T	G40020882T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4174-17G>T	noncoding	Benign
15	40020940	C	T	C40020940T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4215C>T:p.Gly1405=	coding	Benign
15	40020943	G	T	G40020943T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4218G>T:p.Gln1406His	coding	Benign/Likely_benign
15	40022325	G	A	G40022325A	EIF2AK4	NM_001013703.4(EIF2AK4):c.4303-194G>A	noncoding	Benign
15	40022510	T	G	T40022510G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4303-9T>G	noncoding	Benign/Likely_benign
15	40030347	T	G	T40030347G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4562-12T>G	noncoding	Benign
15	40030351	G	T	G40030351T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4562-8G>T	noncoding	Benign
15	40032636	C	T	C40032636T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4729-121C>T	noncoding	Benign
15	40035089	A	G	A40035089G	EIF2AK4	NM_001013703.4(EIF2AK4):c.*5A>G	noncoding	Benign
15	40035100	G	A	G40035100A	EIF2AK4	NM_001013703.4(EIF2AK4):c.*16G>A	noncoding	Benign
15	40036464	G	A	G40036464A	EIF2AK4	NM_003134.6(SRP14):c.280C>T:p.Leu94=	coding	Benign
15	40161229	G	T	G40161229T	BUB1B	NM_001211.5(BUB1B):c.9G>T:p.Ala3=	coding	Benign
15	40165136	C	T	C40165136T	BUB1B	NM_001211.5(BUB1B):c.119C>T:p.Thr40Met	coding	Benign
15	40170059	C	T	C40170059T	BUB1B	NM_001211.5(BUB1B):c.180-3C>T	noncoding	Benign
15	40170579	G	A	G40170579A	BUB1B	NM_001211.5(BUB1B):c.282G>A:p.Lys94=	coding	Benign
15	40170637	C	T	C40170637T	BUB1B	NM_001211.5(BUB1B):c.340C>T:p.Arg114Ter	coding	Pathogenic
15	40170645	T	C	T40170645C	BUB1B	NM_001211.5(BUB1B):c.348T>C:p.Tyr116=	coding	Benign/Likely_benign
15	40170655	C	T	C40170655T	BUB1B	NM_001211.6(BUB1B):c.358C>T:p.Arg120Ter	coding	Pathogenic
15	40176647	A	G	A40176647G	BUB1B	NM_001211.6(BUB1B):c.555A>G:p.Pro185=	coding	Benign
15	40176665	C	A	C40176665A	BUB1B	NM_001211.5(BUB1B):c.573C>A:p.Ser191=	coding	Benign
15	40176672	C	T	C40176672T	BUB1B	NM_001211.5(BUB1B):c.580C>T:p.Arg194Ter	coding	Pathogenic
15	40183727	C	T	C40183727T	BUB1B	NM_001211.6(BUB1B):c.595C>T:p.Arg199Ter	coding	Pathogenic
15	40185338	C	T	C40185338T	BUB1B	NM_001211.6(BUB1B):c.925C>T:p.Gln309Ter	coding	Pathogenic
15	40185630	G	A	G40185630A	BUB1B	NM_001211.6(BUB1B):c.1046G>A:p.Arg349Gln	coding	Benign
15	40196650	G	A	G40196650A	BUB1B	NM_001211.5(BUB1B):c.1164G>A:p.Ala388=	coding	Benign
15	40196656	G	C	G40196656C	BUB1B	NM_001211.5(BUB1B):c.1170G>C:p.Glu390Asp	coding	Benign
15	40196716	C	T	C40196716T	BUB1B	NM_001211.5(BUB1B):c.1230C>T:p.Phe410=	coding	Benign
15	40199713	A	T	A40199713T	BUB1B	NM_001211.5(BUB1B):c.1387A>T:p.Arg463Ter	coding	Pathogenic
15	40202460	T	C	T40202460C	BUB1B	NM_001211.5(BUB1B):c.1623T>C:p.Asn541=	coding	Benign
15	40202608	C	T	C40202608T	BUB1B	NM_001211.5(BUB1B):c.1648C>T:p.Arg550Ter	coding	Pathogenic
15	40202609	G	A	G40202609A	BUB1B	NM_001211.5(BUB1B):c.1649G>A:p.Arg550Gln	coding	Benign/Likely_benign
15	40206302	T	C	T40206302C	BUB1B	NM_001211.5(BUB1B):c.1853T>C:p.Val618Ala	coding	Benign
15	40206369	G	A	G40206369A	BUB1B	NM_001211.5(BUB1B):c.1920G>A:p.Pro640=	coding	Benign
15	40206403	C	T	C40206403T	BUB1B	NM_001211.5(BUB1B):c.1954C>T:p.Gln652Ter	coding	Pathogenic
15	40208785	C	T	C40208785T	BUB1B	NM_001211.6(BUB1B):c.2143+15C>T	noncoding	Benign
15	40209701	T	G	T40209701G	BUB1B	NM_001211.5(BUB1B):c.2210T>G:p.Leu737Ter	coding	Pathogenic
15	40209792	T	G	T40209792G	BUB1B	NM_001211.5(BUB1B):c.2284+17T>G	noncoding	Benign
15	40210133	C	T	C40210133T	BUB1B	NM_001211.5(BUB1B):c.2308C>T:p.Arg770Ter	coding	Pathogenic
15	40210141	C	G	C40210141G	BUB1B	NM_001211.5(BUB1B):c.2316C>G:p.Tyr772Ter	coding	Pathogenic
15	40212591	T	G	T40212591G	BUB1B	NM_001211.6(BUB1B):c.2478T>G:p.Tyr826Ter	coding	Pathogenic
15	40212636	C	T	C40212636T	BUB1B	NM_001211.5(BUB1B):c.2523C>T:p.Cys841=	coding	Benign
15	40217399	A	G	A40217399G	BUB1B	NM_001211.6(BUB1B):c.2679-97A>G	noncoding	Benign
15	40218461	C	T	C40218461T	BUB1B	NM_001211.5(BUB1B):c.2856C>T:p.Asp952=	coding	Benign
15	40220577	G	T	G40220577T	BUB1B	NM_001211.5(BUB1B):c.2971G>T:p.Glu991Ter	coding	Pathogenic
15	40220617	A	G	A40220617G	BUB1B	NM_001211.5(BUB1B):c.3011A>G:p.Asn1004Ser	coding	Benign
15	40220700	A	C	A40220700C	BUB1B	NM_001211.5(BUB1B):c.3094A>C:p.Asn1032His	coding	Benign
15	40220705	A	G	A40220705G	BUB1B	NM_001211.5(BUB1B):c.3099A>G:p.Lys1033=	coding	Benign
15	40266206	A	G	A40266206G	PAK6	NM_001276718.2(PAK6):c.569A>G:p.Gln190Arg	coding	Benign
15	40266209	G	A	G40266209A	PAK6	NM_001276718.2(PAK6):c.572G>A:p.Arg191His	coding	Benign
15	40266230	G	A	G40266230A	PAK6	NM_001276718.2(PAK6):c.593G>A:p.Cys198Tyr	coding	Benign
15	40266259	C	A	C40266259A	PAK6	NM_001276718.2(PAK6):c.622C>A:p.Pro208Thr	coding	Benign
15	40295236	A	G	A40295236G	PLCB2	NM_004573.3(PLCB2):c.1746T>C:p.Tyr582=	coding	Benign
15	40295260	C	T	C40295260T	PLCB2	NM_004573.3(PLCB2):c.1722G>A:p.Ser574=	coding	Benign
15	40298623	G	C	G40298623C	PLCB2	NM_004573.3(PLCB2):c.936C>G:p.His312Gln	coding	Benign
15	40364523	C	T	C40364523T	DISP2	NM_033510.3(DISP2):c.582C>T:p.Pro194=	coding	Benign
15	40393596	A	C	A40393596C	KNSTRN	NM_033286.3(KNSTRN):c.950A>C:p.Ter317Ser	coding	Benign
15	40405780	G	A	G40405780A	IVD	NM_002225.3(IVD):c.-39G>A	noncoding	Benign/Likely_benign
15	40405915	C	T	C40405915T	IVD	NM_002225.5(IVD):c.88C>T:p.His30Tyr	coding	Benign
15	40405952	T	C	T40405952C	IVD	NM_002225.5(IVD):c.125T>C:p.Leu42Pro	coding	Pathogenic
15	40407640	G	A	G40407640A	IVD	NM_002225.5(IVD):c.149G>A:p.Arg50His	coding	Pathogenic/Likely_pathogenic
15	40407640	G	C	G40407640C	IVD	NM_002225.5(IVD):c.149G>C:p.Arg50Pro	coding	Pathogenic/Likely_pathogenic
15	40407690	G	T	G40407690T	IVD	NM_002225.5(IVD):c.199G>T:p.Glu67Ter	coding	Pathogenic
15	40407720	C	T	C40407720T	IVD	NM_002225.5(IVD):c.229C>T:p.Leu77=	coding	Benign/Likely_benign
15	40407723	C	T	C40407723T	IVD	NM_002225.5(IVD):c.232C>T:p.Arg78Ter	coding	Pathogenic
15	40407739	T	C	T40407739C	IVD	NM_002225.5(IVD):c.234+14T>C	noncoding	Benign
15	40407921	G	A	G40407921A	IVD	NM_002225.5(IVD):c.235-18G>A	noncoding	Benign
15	40407947	G	A	G40407947A	IVD	NM_002225.5(IVD):c.243G>A:p.Trp81Ter	coding	Pathogenic
15	40410699	G	A	G40410699A	IVD	NM_002225.5(IVD):c.358G>A:p.Gly120Arg	coding	Pathogenic/Likely_pathogenic
15	40410799	T	C	T40410799C	IVD	NM_002225.5(IVD):c.456+2T>C	noncoding	Pathogenic
15	40411354	G	A	G40411354A	IVD	NM_002225.5(IVD):c.550+1G>A	coding	Pathogenic
15	40411600	G	T	G40411600T	IVD	NM_002225.5(IVD):c.596G>T:p.Gly199Val	coding	Pathogenic
15	40412960	T	C	T40412960C	IVD	NM_002225.5(IVD):c.688-31T>C	noncoding	Benign
15	40413026	C	T	C40413026T	IVD	NM_002225.5(IVD):c.723C>T:p.Asp241=	coding	Benign
15	40413088	G	A	G40413088A	IVD	NM_002225.5(IVD):c.784+1G>A	coding	Pathogenic
15	40415413	G	A	G40415413A	IVD	NM_002225.5(IVD):c.891G>A:p.Ala297=	coding	Benign/Likely_benign
15	40415454	C	T	C40415454T	IVD	NM_002225.5(IVD):c.932C>T:p.Ala311Val	coding	Pathogenic/Likely_pathogenic
15	40415482	G	T	G40415482T	IVD	NM_002225.5(IVD):c.960G>T:p.Gln320His	coding	Pathogenic
15	40416126	C	G	C40416126G	IVD	NM_002225.5(IVD):c.1009C>G:p.Arg337Gly	coding	Pathogenic
15	40416223	A	G	A40416223G	IVD	NM_002225.5(IVD):c.1065+41A>G	noncoding	Benign
15	40416285	C	T	C40416285T	IVD	NM_002225.5(IVD):c.1066-5C>T	noncoding	Benign
15	40416332	C	T	C40416332T	IVD	NM_002225.5(IVD):c.1108C>T:p.Gln370Ter	coding	Pathogenic
15	40416346	C	T	C40416346T	IVD	NM_002225.5(IVD):c.1122C>T:p.Asp374=	coding	Benign/Likely_benign
15	40418165	C	T	C40418165T	IVD	NM_002225.5(IVD):c.1174C>T:p.Arg392Cys	coding	Pathogenic
15	40418166	G	A	G40418166A	IVD	NM_002225.5(IVD):c.1175G>A:p.Arg392His	coding	Pathogenic
15	40418174	C	T	C40418174T	IVD	NM_002225.5(IVD):c.1183C>T:p.Arg395Ter	coding	Pathogenic/Likely_pathogenic
15	40418190	A	G	A40418190G	IVD	NM_002225.5(IVD):c.1199A>G:p.Tyr400Cys	coding	Pathogenic/Likely_pathogenic
15	40418222	C	T	C40418222T	IVD	NM_002225.5(IVD):c.1231C>T:p.Arg411Trp	coding	Pathogenic
15	40418277	C	T	C40418277T	IVD	NM_002225.5(IVD):c.*14C>T	noncoding	Benign
15	40418458	C	T	C40418458T	IVD	NM_002225.5(IVD):c.*195C>T	noncoding	Benign
15	40418524	G	A	G40418524A	IVD	NM_002225.5(IVD):c.*261G>A	noncoding	Benign
15	40418710	C	G	C40418710G	IVD	NM_002225.5(IVD):c.*447C>G	noncoding	Benign
15	40420153	G	C	G40420153C	IVD	NM_002225.5(IVD):c.*1890G>C	noncoding	Benign
15	40420333	C	T	C40420333T	IVD	NM_002225.5(IVD):c.*2070C>T	noncoding	Benign
15	40420538	T	C	T40420538C	IVD	NM_002225.5(IVD):c.*2275T>C	noncoding	Benign
15	40420548	C	G	C40420548G	IVD	NM_002225.5(IVD):c.*2285C>G	noncoding	Benign
15	40421107	T	C	T40421107C	IVD	NM_002225.5(IVD):c.*2844T>C	noncoding	Benign
15	40421175	G	A	G40421175A	IVD	NM_002225.5(IVD):c.*2912G>A	noncoding	Benign
15	40470643	T	C	T40470643C	CHST14	NM_130468.3(CHST14):c.-571T>C	noncoding	Benign
15	40471418	A	T	A40471418T	CHST14	NM_130468.3(CHST14):c.205A>T:p.Lys69Ter	coding	Pathogenic
15	40471501	G	A	G40471501A	CHST14	NM_130468.3(CHST14):c.288G>A:p.Arg96=	coding	Benign/Likely_benign
15	40471780	G	A	G40471780A	CHST14	NM_130468.4(CHST14):c.567G>A:p.Val189=	coding	Benign
15	40471851	G	C	G40471851C	CHST14	NM_130468.3(CHST14):c.638G>C:p.Arg213Pro	coding	Pathogenic
15	40472034	G	C	G40472034C	CHST14	NM_130468.3(CHST14):c.821G>C:p.Arg274Pro	coding	Pathogenic
15	40472055	C	T	C40472055T	CHST14	NM_130468.3(CHST14):c.842C>T:p.Pro281Leu	coding	Pathogenic
15	40472079	G	C	G40472079C	CHST14	NM_130468.3(CHST14):c.866G>C:p.Cys289Ser	coding	Pathogenic
15	40472350	G	A	G40472350A	CHST14	NM_130468.4(CHST14):c.*6G>A	noncoding	Benign
15	40606445	G	C	G40606445C	KNL1	NM_144508.5(KNL1):c.128G>C:p.Arg43Thr	coding	Benign
15	40610292	T	C	T40610292C	KNL1	NM_144508.5(KNL1):c.245T>C:p.Met82Thr	coding	Benign
15	40611486	A	G	A40611486G	KNL1	NM_144508.5(KNL1):c.259A>G:p.Thr87Ala	coding	Benign
15	40620715	A	G	A40620715G	KNL1	NM_144508.5(KNL1):c.451A>G:p.Met151Val	coding	Benign
15	40620991	A	G	A40620991G	KNL1	NM_144508.5(KNL1):c.727A>G:p.Ile243Val	coding	Benign/Likely_benign
15	40621393	A	G	A40621393G	KNL1	NM_144508.5(KNL1):c.1129A>G:p.Ile377Val	coding	Benign/Likely_benign
15	40621563	T	C	T40621563C	KNL1	NM_144508.5(KNL1):c.1299T>C:p.Cys433=	coding	Benign
15	40621642	G	T	G40621642T	KNL1	NM_144508.5(KNL1):c.1378G>T:p.Ala460Ser	coding	Benign
15	40621757	T	A	T40621757A	KNL1	NM_144508.5(KNL1):c.1493T>A:p.Ile498Asn	coding	Benign
15	40621979	T	C	T40621979C	KNL1	NM_144508.5(KNL1):c.1715T>C:p.Met572Thr	coding	Benign
15	40622278	A	C	A40622278C	KNL1	NM_144508.5(KNL1):c.2014A>C:p.Ile672Leu	coding	Benign
15	40622574	C	T	C40622574T	KNL1	NM_144508.5(KNL1):c.2310C>T:p.Val770=	coding	Benign
15	40622847	T	G	T40622847G	KNL1	NM_144508.5(KNL1):c.2583T>G:p.Thr861=	coding	Benign
15	40622992	A	G	A40622992G	KNL1	NM_170589.5(KNL1):c.2806A>G:p.Arg936Gly	coding	Benign
15	40623669	C	T	C40623669T	KNL1	NM_144508.5(KNL1):c.3405C>T:p.Ala1135=	coding	Benign/Likely_benign
15	40623696	T	C	T40623696C	KNL1	NM_144508.5(KNL1):c.3432T>C:p.Asn1144=	coding	Benign
15	40623754	C	G	C40623754G	KNL1	NM_144508.5(KNL1):c.3490C>G:p.Leu1164Val	coding	Benign
15	40624039	A	G	A40624039G	KNL1	NM_144508.5(KNL1):c.3775A>G:p.Lys1259Glu	coding	Benign
15	40624074	G	A	G40624074A	KNL1	NM_144508.5(KNL1):c.3810G>A:p.Ala1270=	coding	Benign
15	40624434	T	A	T40624434A	KNL1	NM_144508.5(KNL1):c.4170T>A:p.Asp1390Glu	coding	Benign/Likely_benign
15	40625195	A	G	A40625195G	KNL1	NM_144508.5(KNL1):c.4931A>G:p.Lys1644Arg	coding	Benign/Likely_benign
15	40625415	T	C	T40625415C	KNL1	NM_144508.5(KNL1):c.5151T>C:p.Pro1717=	coding	Benign
15	40628126	A	T	A40628126T	KNL1	NM_144508.5(KNL1):c.5433A>T:p.Ile1811=	coding	Benign/Likely_benign
15	40644988	G	A	G40644988A	KNL1	NM_144508.5(KNL1):c.5799-9G>A	noncoding	Benign/Likely_benign
15	40647014	A	G	A40647014G	KNL1	NM_144508.5(KNL1):c.6034A>G:p.Ile2012Val	coding	Benign/Likely_benign
15	40647025	G	A	G40647025A	KNL1	NM_144508.5(KNL1):c.6045G>A:p.Met2015Ile	coding	Pathogenic
15	40650337	C	T	C40650337T	KNL1	NM_144508.5(KNL1):c.6131C>T:p.Pro2044Leu	coding	Benign/Likely_benign
15	40650588	G	A	G40650588A	KNL1	NM_144508.5(KNL1):c.6212+5G>A	noncoding	Benign/Likely_benign
15	40652071	G	A	G40652071A	KNL1	NM_144508.5(KNL1):c.6381G>A:p.Thr2127=	coding	Benign
15	40709072	A	C	A40709072C	RAD51	NM_002875.5(RAD51):c.391A>C:p.Thr131Pro	coding	Pathogenic
15	40729609	G	A	G40729609A	RAD51	NM_002875.5(RAD51):c.749G>A:p.Arg250Gln	coding	Pathogenic
15	40729620	C	T	C40729620T	RAD51	NM_002875.5(RAD51):c.760C>T:p.Arg254Ter	coding	Pathogenic
15	40729955	G	A	G40729955A	RAD51	NM_002875.5(RAD51):c.877G>A:p.Ala293Thr	coding	Pathogenic
15	40854418	C	T	C40854418T	SPINT1	NM_181642.3(SPINT1):c.1010C>T:p.Pro337Leu	coding	Benign
15	40854666	G	A	G40854666A	SPINT1	NM_181642.3(SPINT1):c.1142G>A:p.Arg381His	coding	Benign
15	40856790	G	A	G40856790A	SPINT1	NM_181642.3(SPINT1):c.1405G>A:p.Ala469Thr	coding	Benign
15	40902729	A	G	A40902729G	VPS18	NM_020857.3(VPS18):c.2310A>G:p.Val770=	coding	Benign
15	40930649	G	C	G40930649C	DLL4	NM_019074.4(DLL4):c.361G>C:p.Ala121Pro	coding	Pathogenic
15	40930657	C	T	C40930657T	DLL4	NM_019074.4(DLL4):c.369C>T:p.His123=	coding	Benign
15	40931624	G	C	G40931624C	DLL4	NM_019074.4(DLL4):c.516G>C:p.Arg172=	coding	Benign
15	40931664	C	T	C40931664T	DLL4	NM_019074.4(DLL4):c.556C>T:p.Arg186Cys	coding	Pathogenic
15	40931691	T	C	T40931691C	DLL4	NM_019074.4(DLL4):c.583T>C:p.Phe195Leu	coding	Pathogenic
15	40932184	G	A	G40932184A	DLL4	NM_019074.4(DLL4):c.672G>A:p.Ser224=	coding	Benign
15	40932307	T	C	T40932307C	DLL4	NM_019074.4(DLL4):c.720-10T>C	noncoding	Benign
15	40932359	C	T	C40932359T	DLL4	NM_019074.4(DLL4):c.762C>T:p.Ile254=	coding	Benign
15	40934594	G	A	G40934594A	DLL4	NM_019074.4(DLL4):c.897G>A:p.Thr299=	coding	Benign
15	40934951	T	C	T40934951C	DLL4	NM_019074.4(DLL4):c.1074T>C:p.His358=	coding	Benign
15	40935045	T	C	T40935045C	DLL4	NM_019074.4(DLL4):c.1168T>C:p.Cys390Arg	coding	Pathogenic
15	40935046	G	A	G40935046A	DLL4	NM_019074.4(DLL4):c.1169G>A:p.Cys390Tyr	coding	Pathogenic
15	40936297	G	C	G40936297C	DLL4	NM_019074.4(DLL4):c.1310G>C:p.Cys437Ser	coding	Pathogenic
15	40936352	C	G	C40936352G	DLL4	NM_019074.4(DLL4):c.1365C>G:p.Cys455Trp	coding	Pathogenic
15	40936384	G	A	G40936384A	DLL4	NM_019074.4(DLL4):c.1397G>A:p.Cys466Tyr	coding	Pathogenic
15	40936548	G	A	G40936548A	DLL4	NM_019074.4(DLL4):c.1561G>A:p.Val521Met	coding	Benign
15	40936647	C	T	C40936647T	DLL4	NM_019074.4(DLL4):c.1660C>T:p.Gln554Ter	coding	Pathogenic
15	40936659	C	T	C40936659T	DLL4	NM_019074.4(DLL4):c.1672C>T:p.Arg558Ter	coding	Pathogenic
15	40936812	C	T	C40936812T	DLL4	NM_019074.4(DLL4):c.1825C>T:p.Gln609Ter	coding	Pathogenic
15	40985353	T	C	T40985353C	INO80	NM_017553.3(INO80):c.3906A>G:p.Glu1302=	coding	Benign
15	41044982	G	A	G41044982A	INO80	NM_017553.3(INO80):c.2829C>T:p.Tyr943=	coding	Benign
15	41044998	T	C	T41044998C	INO80	NM_017553.3(INO80):c.2813A>G:p.Glu938Gly	coding	Benign
15	41079857	G	T	G41079857T	INO80	NM_017553.3(INO80):c.975C>A:p.Ala325=	coding	Benign
15	41092112	T	C	T41092112C	INO80	NM_017553.3(INO80):c.452A>G:p.Asn151Ser	coding	Benign
15	41092156	G	A	G41092156A	INO80	NM_017553.3(INO80):c.408C>T:p.Ser136=	coding	Benign
15	41387487	G	C	G41387487C	NDUFAF1	NM_016013.4(NDUFAF1):c.941C>G:p.Ala314Gly	coding	Benign
15	41387519	C	T	C41387519T	NDUFAF1	NM_016013.4(NDUFAF1):c.909G>A:p.Val303=	coding	Benign
15	41388541	T	A	T41388541A	NDUFAF1	NM_016013.4(NDUFAF1):c.760-19A>T	noncoding	Benign
15	41394860	T	C	T41394860C	NDUFAF1	NM_016013.4(NDUFAF1):c.758A>G:p.Lys253Arg	coding	Pathogenic
15	41394885	C	T	C41394885T	NDUFAF1	NM_016013.4(NDUFAF1):c.733G>A:p.Gly245Arg	coding	Pathogenic
15	41394987	G	A	G41394987A	NDUFAF1	NM_016013.4(NDUFAF1):c.631C>T:p.Arg211Cys	coding	Pathogenic
15	41394999	T	G	T41394999G	NDUFAF1	NM_016013.4(NDUFAF1):c.619A>C:p.Thr207Pro	coding	Pathogenic
15	41396502	T	C	T41396502C	NDUFAF1	NM_016013.4(NDUFAF1):c.558A>G:p.Ile186Met	coding	Benign/Likely_benign
15	41396534	C	T	C41396534T	NDUFAF1	NM_016013.4(NDUFAF1):c.526G>A:p.Glu176Lys	coding	Benign/Likely_benign
15	41396913	G	A	G41396913A	NDUFAF1	NM_016013.4(NDUFAF1):c.147C>T:p.Ala49=	coding	Benign
15	41396968	C	A	C41396968A	NDUFAF1	NM_016013.4(NDUFAF1):c.92G>T:p.Arg31Leu	coding	Benign
15	41397034	C	T	C41397034T	NDUFAF1	NM_016013.4(NDUFAF1):c.26G>A:p.Arg9His	coding	Benign
15	41397058	A	G	A41397058G	NDUFAF1	NM_016013.4(NDUFAF1):c.2T>C:p.Met1Thr	coding	Pathogenic
15	41493975	G	C	G41493975C	ITPKA	NM_002220.3(ITPKA):c.48G>C:p.Ala16=	coding	Benign
15	41505523	G	T	G41505523T	LTK	NM_002344.6(LTK):c.1705C>A:p.Arg569Ser	coding	Benign
15	41508148	T	C	T41508148C	LTK	NM_002344.6(LTK):c.1170A>G:p.Gln390=	coding	Benign
15	41537118	G	A	G41537118A	RPAP1	NM_015540.4(RPAP1):c.8C>T:p.Ser3Leu	coding	Benign
15	41562687	C	T	C41562687T	TYRO3	NM_006293.4(TYRO3):c.549C>T:p.Pro183=	coding	Benign
15	41570148	G	A	G41570148A	TYRO3	NM_006293.4(TYRO3):c.1374G>A:p.Thr458=	coding	Benign
15	41573327	G	T	G41573327T	TYRO3	NM_006293.4(TYRO3):c.2005G>T:p.Val669Leu	coding	Benign
15	41573345	G	A	G41573345A	TYRO3	NM_006293.4(TYRO3):c.2023G>A:p.Gly675Arg	coding	Benign
15	41578047	C	T	C41578047T	TYRO3	NM_006293.4(TYRO3):c.2444C>T:p.Ala815Val	coding	Benign
15	41578048	G	T	G41578048T	TYRO3	NM_006293.4(TYRO3):c.2445G>T:p.Ala815=	coding	Benign
15	41696827	C	T	C41696827T	MGA	NM_001164273.1(MGA):c.1817C>T:p.Ala606Val	coding	Benign
15	41697032	G	T	G41697032T	MGA	NM_001164273.1(MGA):c.2013+9G>T	noncoding	Benign
15	41713282	C	T	C41713282T	MGA	NM_001164273.1(MGA):c.3216C>T:p.Arg1072=	coding	Benign
15	41727412	T	A	T41727412A	MGA	NM_001164273.1(MGA):c.3657+6T>A	noncoding	Benign
15	41736499	C	G	C41736499G	MGA	NM_001164273.1(MGA):c.4235C>G:p.Ser1412Cys	coding	Benign
15	41736607	A	G	A41736607G	MGA	NM_001164273.1(MGA):c.4343A>G:p.Lys1448Arg	coding	Benign
15	41736622	A	G	A41736622G	MGA	NM_001164273.1(MGA):c.4358A>G:p.Tyr1453Cys	coding	Benign
15	41748890	C	A	C41748890A	MGA	NM_001164273.1(MGA):c.5466C>A:p.Thr1822=	coding	Benign
15	41749552	A	G	A41749552G	MGA	NM_001164273.1(MGA):c.5945A>G:p.Asn1982Ser	coding	Benign
15	41757780	T	C	T41757780C	MGA	NM_001164273.1(MGA):c.7140-8T>C	noncoding	Benign
15	41765070	G	A	G41765070A	MGA	NM_001164273.1(MGA):c.7921+8G>A	noncoding	Benign
15	41766302	A	G	A41766302G	MGA	NM_001164273.1(MGA):c.8220A>G:p.Gln2740=	coding	Benign
15	41766702	A	G	A41766702G	MGA	NM_001164273.1(MGA):c.8620A>G:p.Thr2874Ala	coding	Benign
15	41812107	G	A	G41812107A	MAPKBP1	NM_014994.3(MAPKBP1):c.478G>A:p.Val160Ile	coding	Benign
15	41812609	C	T	C41812609T	MAPKBP1	NM_014994.3(MAPKBP1):c.592C>T:p.Arg198Ter	coding	Pathogenic
15	41814725	G	A	G41814725A	MAPKBP1	NM_014994.3(MAPKBP1):c.1156G>A:p.Val386Ile	coding	Benign
15	41815388	C	T	C41815388T	MAPKBP1	NM_014994.3(MAPKBP1):c.1300C>T:p.Arg434Ter	coding	Pathogenic
15	41815726	G	A	G41815726A	MAPKBP1	NM_014994.3(MAPKBP1):c.1420G>A:p.Val474Met	coding	Benign
15	41816590	C	T	C41816590T	MAPKBP1	NM_014994.3(MAPKBP1):c.1525C>T:p.Leu509=	coding	Benign
15	41816937	G	A	G41816937A	MAPKBP1	NM_014994.3(MAPKBP1):c.1613G>A:p.Arg538Gln	coding	Pathogenic
15	41817643	A	T	A41817643T	MAPKBP1	NM_014994.3(MAPKBP1):c.1812A>T:p.Thr604=	coding	Benign
15	41818295	T	C	T41818295C	MAPKBP1	NM_014994.3(MAPKBP1):c.2082T>C:p.Phe694=	coding	Benign
15	41818902	C	T	C41818902T	MAPKBP1	NM_014994.3(MAPKBP1):c.2236C>T:p.Arg746Trp	coding	Benign
15	41819345	G	T	G41819345T	MAPKBP1	NM_014994.3(MAPKBP1):c.2391G>T:p.Leu797=	coding	Benign
15	41819346	C	T	C41819346T	MAPKBP1	NM_014994.3(MAPKBP1):c.2392C>T:p.Pro798Ser	coding	Benign
15	41819594	G	A	G41819594A	MAPKBP1	NM_014994.3(MAPKBP1):c.2426-1G>A	noncoding	Pathogenic
15	41819648	C	T	C41819648T	MAPKBP1	NM_014994.3(MAPKBP1):c.2479C>T:p.Arg827Trp	coding	Benign
15	41820998	C	T	C41820998T	MAPKBP1	NM_014994.3(MAPKBP1):c.2648C>T:p.Ser883Leu	coding	Benign
15	41821674	C	T	C41821674T	MAPKBP1	NM_014994.3(MAPKBP1):c.2809C>T:p.Gln937Ter	coding	Pathogenic
15	41821724	G	A	G41821724A	MAPKBP1	NM_014994.3(MAPKBP1):c.2859G>A:p.Pro953=	coding	Benign
15	41822021	G	A	G41822021A	MAPKBP1	NM_014994.3(MAPKBP1):c.2942G>A:p.Ser981Asn	coding	Benign
15	41822425	G	A	G41822425A	MAPKBP1	NM_014994.3(MAPKBP1):c.3229+3G>A	noncoding	Benign
15	41822954	C	T	C41822954T	MAPKBP1	NM_014994.3(MAPKBP1):c.3330C>T:p.Ser1110=	coding	Benign
15	41822963	C	T	C41822963T	MAPKBP1	NM_014994.3(MAPKBP1):c.3339C>T:p.Ser1113=	coding	Benign
15	41823878	G	T	G41823878T	MAPKBP1	NM_014994.3(MAPKBP1):c.4030G>T:p.Gly1344Cys	coding	Benign
15	41824535	G	A	G41824535A	MAPKBP1	NM_014994.3(MAPKBP1):c.4265G>A:p.Gly1422Asp	coding	Benign
15	41825221	A	C	A41825221C	MAPKBP1	NM_014994.3(MAPKBP1):c.4312A>C:p.Lys1438Gln	coding	Benign
15	41825284	C	T	C41825284T	MAPKBP1	NM_014994.3(MAPKBP1):c.4375C>T:p.Arg1459Ter	coding	Pathogenic
15	41828174	C	T	C41828174T	JMJD7	NM_001114632.2(JMJD7):c.50C>T:p.Pro17Leu	coding	Benign
15	41834758	C	G	C41834758G	JMJD7	NM_001114632.2(JMJD7):c.83C>G:p.Ala28Gly	coding	Benign
15	41835222	G	T	G41835222T	JMJD7	NM_001114632.2(JMJD7):c.471G>T:p.Leu157=	coding	Benign
15	41841258	C	T	C41841258T	PLA2G4B	NM_001114633.1(PLA2G4B):c.420C>T:p.Ser140=	coding	Benign
15	41858928	G	A	G41858928A	SPTBN5	NM_016642.4(SPTBN5):c.8041C>T:p.Leu2681Phe	coding	Benign
15	41869928	C	T	C41869928T	SPTBN5	NM_016642.4(SPTBN5):c.5766G>A:p.Thr1922=	coding	Benign
15	41875051	T	C	T41875051C	SPTBN5	NM_016642.4(SPTBN5):c.4293A>G:p.Ala1431=	coding	Benign
15	41876175	C	T	C41876175T	SPTBN5	NM_016642.4(SPTBN5):c.4061G>A:p.Arg1354Gln	coding	Benign
15	41885850	G	A	G41885850A	SPTBN5	NM_016642.4(SPTBN5):c.1405C>T:p.Leu469=	coding	Benign
15	41892953	G	A	G41892953A	SPTBN5	NM_016642.4(SPTBN5):c.325C>T:p.Arg109Cys	coding	Benign
15	41893490	C	T	C41893490T	SPTBN5	NM_016642.4(SPTBN5):c.8G>A:p.Gly3Asp	coding	Benign
15	41984605	G	A	G41984605A	PLA2G4E	NM_001206670.1(PLA2G4E):c.2217C>T:p.Thr739=	coding	Benign
15	41989421	T	C	T41989421C	PLA2G4E	NM_001206670.1(PLA2G4E):c.1717A>G:p.Met573Val	coding	Benign
15	41990170	G	A	G41990170A	PLA2G4E	NM_001206670.1(PLA2G4E):c.1536C>T:p.Ile512=	coding	Benign
15	41999977	C	G	C41999977G	PLA2G4E	NM_001206670.1(PLA2G4E):c.876G>C:p.Lys292Asn	coding	Benign
15	42001193	G	A	G42001193A	PLA2G4E	NM_001206670.1(PLA2G4E):c.637C>T:p.His213Tyr	coding	Benign
15	42013699	C	T	C42013699T	PLA2G4E	NM_001206670.1(PLA2G4E):c.242G>A:p.Arg81Gln	coding	Benign
15	42050517	A	G	A42050517G	PLA2G4E	NM_001206670.1(PLA2G4E):c.183+4T>C	noncoding	Benign
15	42081094	G	A	G42081094A	PLA2G4D	NM_178034.4(PLA2G4D):c.997C>T:p.Arg333Trp	coding	Benign
15	42081493	G	A	G42081493A	PLA2G4D	NM_178034.4(PLA2G4D):c.943C>T:p.Leu315=	coding	Benign
15	42086199	A	C	A42086199C	PLA2G4D	NM_178034.4(PLA2G4D):c.387+14T>G	noncoding	Benign
15	42187848	C	T	C42187848T	VPS39	NM_015289.4(VPS39):c.351G>A:p.Glu117=	coding	Benign
15	42287751	G	A	G42287751A	GANC	NM_198141.2(GANC):c.262G>A:p.Glu88Lys	coding	Benign
15	42292901	A	G	A42292901G	GANC	NM_198141.2(GANC):c.496A>G:p.Ile166Val	coding	Benign
15	42359398	T	C	T42359398C	CAPN3	NC_000015.10:g.42359398T>C	noncoding	Benign
15	42359878	C	T	C42359878T	CAPN3	NM_000070.3(CAPN3):c.73C>T:p.His25Tyr	coding	Benign/Likely_benign
15	42359883	G	A	G42359883A	CAPN3	NM_000070.3(CAPN3):c.78G>A:p.Pro26=	coding	Benign/Likely_benign
15	42359901	T	C	T42359901C	CAPN3	NM_000070.3(CAPN3):c.96T>C:p.Thr32=	coding	Benign/Likely_benign
15	42359938	G	A	G42359938A	CAPN3	NM_000070.3(CAPN3):c.133G>A:p.Ala45Thr	coding	Pathogenic/Likely_pathogenic
15	42359950	C	T	C42359950T	CAPN3	NM_000070.3(CAPN3):c.145C>T:p.Arg49Cys	coding	Pathogenic/Likely_pathogenic
15	42359951	G	A	G42359951A	CAPN3	NM_000070.3(CAPN3):c.146G>A:p.Arg49His	coding	Pathogenic/Likely_pathogenic
15	42360050	C	T	C42360050T	CAPN3	NM_000070.3(CAPN3):c.245C>T:p.Pro82Leu	coding	Pathogenic/Likely_pathogenic
15	42360062	C	T	C42360062T	CAPN3	NM_000070.3(CAPN3):c.257C>T:p.Ser86Phe	coding	Pathogenic
15	42360096	C	A	C42360096A	CAPN3	NM_000070.3(CAPN3):c.291C>A:p.Phe97Leu	coding	Pathogenic
15	42360126	C	T	C42360126T	CAPN3	NM_000070.3(CAPN3):c.309+12C>T	noncoding	Benign
15	42384239	G	A	G42384239A	CAPN3	NM_000070.3(CAPN3):c.310-244G>A	noncoding	Benign
15	42384491	C	T	C42384491T	CAPN3	NM_000070.3(CAPN3):c.318C>T:p.Cys106=	coding	Benign/Likely_benign
15	42384492	G	A	G42384492A	CAPN3	NM_000070.3(CAPN3):c.319G>A:p.Glu107Lys	coding	Benign/Likely_benign
15	42384492	G	T	G42384492T	CAPN3	NM_000070.3(CAPN3):c.319G>T:p.Glu107Ter	coding	Pathogenic
15	42384501	C	T	C42384501T	CAPN3	NM_000070.3(CAPN3):c.328C>T:p.Arg110Ter	coding	Pathogenic
15	42386140	C	T	C42386140T	CAPN3	NM_000070.3(CAPN3):c.380-27C>T	noncoding	Benign
15	42386226	C	T	C42386226T	CAPN3	NM_000070.3(CAPN3):c.439C>T:p.Arg147Ter	coding	Pathogenic
15	42386266	C	G	C42386266G	CAPN3	NM_000070.3(CAPN3):c.479C>G:p.Ala160Gly	coding	Benign/Likely_benign
15	42386282	C	T	C42386282T	CAPN3	NM_000070.3(CAPN3):c.495C>T:p.Phe165=	coding	Benign/Likely_benign
15	42386317	A	C	A42386317C	CAPN3	NM_000070.3(CAPN3):c.498+32A>C	noncoding	Benign
15	42386320	G	T	G42386320T	CAPN3	NM_000070.3(CAPN3):c.498+35G>T	noncoding	Benign
15	42386411	A	G	A42386411G	CAPN3	NM_000070.3(CAPN3):c.498+126A>G	noncoding	Benign
15	42386614	G	A	G42386614A	CAPN3	NM_000070.3(CAPN3):c.498+329G>A	noncoding	Benign
15	42387591	T	C	T42387591C	CAPN3	NM_000070.3(CAPN3):c.499-162T>C	noncoding	Benign
15	42387752	G	A	G42387752A	CAPN3	NM_000070.3(CAPN3):c.499-1G>A	noncoding	Pathogenic
15	42387757	G	A	G42387757A	CAPN3	NM_000070.3(CAPN3):c.503G>A:p.Trp168Ter	coding	Pathogenic/Likely_pathogenic
15	42387772	G	A	G42387772A	CAPN3	NM_000070.3(CAPN3):c.518G>A:p.Trp173Ter	coding	Pathogenic
15	42387773	G	A	G42387773A	CAPN3	NM_000070.3(CAPN3):c.519G>A:p.Trp173Ter	coding	Pathogenic
15	42387805	C	T	C42387805T	CAPN3	NM_000070.3(CAPN3):c.551C>T:p.Thr184Met	coding	Benign/Likely_benign
15	42387860	T	C	T42387860C	CAPN3	NM_000070.3(CAPN3):c.606T>C:p.Ser202=	coding	Benign/Likely_benign
15	42387887	G	A	G42387887A	CAPN3	NM_000070.3(CAPN3):c.632+1G>A	coding	Pathogenic
15	42388149	A	G	A42388149G	CAPN3	NM_000070.3(CAPN3):c.632+263A>G	noncoding	Benign
15	42388712	C	T	C42388712T	CAPN3	NM_000070.3(CAPN3):c.633-216C>T	noncoding	Benign
15	42388996	G	A	G42388996A	CAPN3	NM_000070.3(CAPN3):c.701G>A:p.Gly234Glu	coding	Pathogenic/Likely_pathogenic
15	42389001	G	A	G42389001A	CAPN3	NM_000070.3(CAPN3):c.706G>A:p.Ala236Thr	coding	Benign
15	42389097	G	A	G42389097A	CAPN3	NM_000070.3(CAPN3):c.801+1G>A	coding	Pathogenic
15	42389944	G	A	G42389944A	CAPN3	NM_000070.3(CAPN3):c.802-9G>A	noncoding	Pathogenic
15	42390016	C	T	C42390016T	CAPN3	NM_000070.3(CAPN3):c.865C>T:p.Arg289Trp	coding	Pathogenic/Likely_pathogenic
15	42390090	G	A	G42390090A	CAPN3	NM_000070.3(CAPN3):c.939G>A:p.Pro313=	coding	Benign/Likely_benign
15	42392482	C	G	C42392482G	CAPN3	NM_000070.3(CAPN3):c.946-157C>G	noncoding	Benign
15	42392637	A	G	A42392637G	CAPN3	NM_000070.3(CAPN3):c.946-2A>G	noncoding	Pathogenic
15	42392638	G	A	G42392638A	CAPN3	NM_000070.3(CAPN3):c.946-1G>A	noncoding	Pathogenic
15	42392660	G	T	G42392660T	CAPN3	NM_000070.3(CAPN3):c.967G>T:p.Glu323Ter	coding	Pathogenic
15	42392677	C	T	C42392677T	CAPN3	NM_000070.3(CAPN3):c.984C>T:p.Cys328=	coding	Benign/Likely_benign
15	42392710	G	A	G42392710A	CAPN3	NM_000070.3(CAPN3):c.1017G>A:p.Thr339=	coding	Benign/Likely_benign
15	42392720	G	T	G42392720T	CAPN3	NM_000070.3(CAPN3):c.1027G>T:p.Glu343Ter	coding	Pathogenic
15	42392725	A	G	A42392725G	CAPN3	NM_000070.3(CAPN3):c.1029+3A>G	noncoding	Benign/Likely_benign
15	42394289	C	T	C42394289T	CAPN3	NM_000070.3(CAPN3):c.1063C>T:p.Arg355Trp	coding	Pathogenic
15	42394305	G	A	G42394305A	CAPN3	NM_000070.3(CAPN3):c.1079G>A:p.Trp360Ter	coding	Pathogenic
15	42394306	G	C	G42394306C	CAPN3	NM_000070.3(CAPN3):c.1080G>C:p.Trp360Cys	coding	Pathogenic
15	42394332	G	A	G42394332A	CAPN3	NM_000070.3(CAPN3):c.1106G>A:p.Trp369Ter	coding	Pathogenic
15	42394343	T	C	T42394343C	CAPN3	NM_000070.3(CAPN3):c.1115+2T>C	noncoding	Pathogenic
15	42396574	A	G	A42396574G	CAPN3	NM_000070.3(CAPN3):c.1116-226A>G	noncoding	Benign
15	42396684	C	G	C42396684G	CAPN3	NM_000070.3(CAPN3):c.1116-116C>G	noncoding	Benign
15	42396795	A	G	A42396795G	CAPN3	NM_000070.3(CAPN3):c.1116-5A>G	noncoding	Benign/Likely_benign
15	42396802	G	A	G42396802A	CAPN3	NM_000070.3(CAPN3):c.1118G>A:p.Trp373Ter	coding	Pathogenic
15	42396811	G	A	G42396811A	CAPN3	NM_000070.3(CAPN3):c.1127G>A:p.Trp376Ter	coding	Pathogenic
15	42399447	C	T	C42399447T	CAPN3	NM_000070.3(CAPN3):c.1194-45C>T	noncoding	Benign
15	42399466	C	G	C42399466G	CAPN3	NM_000070.3(CAPN3):c.1194-26C>G	noncoding	Benign
15	42399483	A	G	A42399483G	CAPN3	NM_000070.3(CAPN3):c.1194-9A>G	noncoding	Pathogenic
15	42399490	A	G	A42399490G	CAPN3	NM_000070.3(CAPN3):c.1194-2A>G	noncoding	Pathogenic
15	42399548	C	T	C42399548T	CAPN3	NM_000070.3(CAPN3):c.1250C>T:p.Thr417Met	coding	Pathogenic/Likely_pathogenic
15	42399607	C	T	C42399607T	CAPN3	NM_000070.3(CAPN3):c.1309C>T:p.Arg437Cys	coding	Pathogenic/Likely_pathogenic
15	42399616	C	T	C42399616T	CAPN3	NM_000070.3(CAPN3):c.1318C>T:p.Arg440Trp	coding	Pathogenic/Likely_pathogenic
15	42399617	G	A	G42399617A	CAPN3	NM_000070.3(CAPN3):c.1319G>A:p.Arg440Gln	coding	Pathogenic
15	42399631	G	A	G42399631A	CAPN3	NM_000070.3(CAPN3):c.1333G>A:p.Gly445Arg	coding	Pathogenic/Likely_pathogenic
15	42399640	C	T	C42399640T	CAPN3	NM_000070.3(CAPN3):c.1342C>T:p.Arg448Cys	coding	Pathogenic
15	42399641	G	A	G42399641A	CAPN3	NM_000070.3(CAPN3):c.1343G>A:p.Arg448His	coding	Pathogenic
15	42401635	G	A	G42401635A	CAPN3	NM_000070.3(CAPN3):c.1355-6G>A	noncoding	Benign/Likely_benign
15	42401640	G	C	G42401640C	CAPN3	NM_000070.3(CAPN3):c.1355-1G>C	noncoding	Pathogenic
15	42401667	C	T	C42401667T	CAPN3	NM_000070.3(CAPN3):c.1381C>T:p.Arg461Cys	coding	Pathogenic/Likely_pathogenic
15	42401721	A	G	A42401721G	CAPN3	NM_000070.3(CAPN3):c.1435A>G:p.Ser479Gly	coding	Pathogenic/Likely_pathogenic
15	42401751	C	T	C42401751T	CAPN3	NM_000070.3(CAPN3):c.1465C>T:p.Arg489Trp	coding	Pathogenic
15	42401752	G	A	G42401752A	CAPN3	NM_000070.3(CAPN3):c.1466G>A:p.Arg489Gln	coding	Pathogenic/Likely_pathogenic
15	42401754	C	T	C42401754T	CAPN3	NM_000070.3(CAPN3):c.1468C>T:p.Arg490Trp	coding	Pathogenic/Likely_pathogenic
15	42401755	G	A	G42401755A	CAPN3	NM_000070.3(CAPN3):c.1469G>A:p.Arg490Gln	coding	Pathogenic
15	42401763	C	T	C42401763T	CAPN3	NM_000070.3(CAPN3):c.1477C>T:p.Arg493Trp	coding	Pathogenic/Likely_pathogenic
15	42401811	G	A	G42401811A	CAPN3	NM_000070.3(CAPN3):c.1524+1G>A	coding	Pathogenic
15	42401811	G	T	G42401811T	CAPN3	NM_000070.3(CAPN3):c.1524+1G>T	coding	Pathogenic
15	42401812	T	C	T42401812C	CAPN3	NM_000070.3(CAPN3):c.1524+2T>C	noncoding	Pathogenic
15	42402746	T	C	T42402746C	CAPN3	NM_000070.3(CAPN3):c.1537-48T>C	noncoding	Benign
15	42402818	C	T	C42402818T	CAPN3	NM_000070.3(CAPN3):c.1561C>T:p.Gln521Ter	coding	Pathogenic
15	42402868	C	A	C42402868A	CAPN3	NM_000070.3(CAPN3):c.1611C>A:p.Tyr537Ter	coding	Pathogenic
15	42402914	G	A	G42402914A	CAPN3	NM_000070.3(CAPN3):c.1657G>A:p.Glu553Lys	coding	Pathogenic/Likely_pathogenic
15	42402919	C	G	C42402919G	CAPN3	NM_000070.3(CAPN3):c.1662C>G:p.Tyr554Ter	coding	Pathogenic
15	42402956	G	T	G42402956T	CAPN3	NM_000070.3(CAPN3):c.1699G>T:p.Gly567Trp	coding	Pathogenic
15	42402971	C	T	C42402971T	CAPN3	NM_000070.3(CAPN3):c.1714C>T:p.Arg572Trp	coding	Pathogenic
15	42402972	G	A	G42402972A	CAPN3	NM_000070.3(CAPN3):c.1715G>A:p.Arg572Gln	coding	Pathogenic
15	42403960	A	T	A42403960T	CAPN3	NM_000070.3(CAPN3):c.1782+183A>T	noncoding	Benign
15	42404849	G	C	G42404849C	CAPN3	NM_000070.3(CAPN3):c.1782+1072G>C	coding	Pathogenic
15	42405033	C	G	C42405033G	CAPN3	NM_000070.3(CAPN3):c.1783-893C>G	noncoding	Benign
15	42405964	C	T	C42405964T	CAPN3	NM_000070.3(CAPN3):c.1800+21C>T	noncoding	Benign
15	42408210	G	A	G42408210A	CAPN3	NM_000070.3(CAPN3):c.1801-1G>A	noncoding	Pathogenic
15	42408227	C	T	C42408227T	CAPN3	NM_000070.3(CAPN3):c.1817C>T:p.Ser606Leu	coding	Pathogenic/Likely_pathogenic
15	42408265	C	T	C42408265T	CAPN3	NM_000070.3(CAPN3):c.1855C>T:p.Gln619Ter	coding	Pathogenic
15	42408354	G	A	G42408354A	CAPN3	NM_000070.3(CAPN3):c.1914+30G>A	noncoding	Benign
15	42409005	G	C	G42409005C	CAPN3	NM_000070.3(CAPN3):c.1915-298G>C	noncoding	Benign
15	42409327	G	T	G42409327T	CAPN3	NM_000070.3(CAPN3):c.1939G>T:p.Glu647Ter	coding	Pathogenic
15	42409345	C	T	C42409345T	CAPN3	NM_000070.3(CAPN3):c.1957C>T:p.Gln653Ter	coding	Pathogenic
15	42409381	G	T	G42409381T	CAPN3	NM_000070.3(CAPN3):c.1992+1G>T	coding	Pathogenic
15	42409382	T	A	T42409382A	CAPN3	NM_000070.3(CAPN3):c.1992+2T>A	noncoding	Pathogenic
15	42409490	T	C	T42409490C	CAPN3	NM_000070.3(CAPN3):c.1992+110T>C	noncoding	Benign
15	42409786	G	A	G42409786A	CAPN3	NM_000070.3(CAPN3):c.1993-1G>A	noncoding	Pathogenic/Likely_pathogenic
15	42409845	G	A	G42409845A	CAPN3	NM_000070.3(CAPN3):c.2050+1G>A	coding	Pathogenic
15	42409930	G	T	G42409930T	CAPN3	NM_000070.3(CAPN3):c.2051-1G>T	noncoding	Pathogenic
15	42409985	C	T	C42409985T	CAPN3	NM_000070.3(CAPN3):c.2105C>T:p.Ala702Val	coding	Pathogenic/Likely_pathogenic
15	42409997	T	C	T42409997C	CAPN3	NM_000070.3(CAPN3):c.2115+2T>C	noncoding	Pathogenic
15	42410432	A	G	A42410432G	CAPN3	NM_000070.3(CAPN3):c.2120A>G:p.Asp707Gly	coding	Pathogenic/Likely_pathogenic
15	42410446	C	T	C42410446T	CAPN3	NM_000070.3(CAPN3):c.2134C>T:p.Leu712Phe	coding	Pathogenic/Likely_pathogenic
15	42410474	G	A	G42410474A	CAPN3	NM_000070.3(CAPN3):c.2162G>A:p.Trp721Ter	coding	Pathogenic
15	42410494	C	T	C42410494T	CAPN3	NM_000070.3(CAPN3):c.2182C>T:p.Gln728Ter	coding	Pathogenic
15	42410586	A	G	A42410586G	CAPN3	NM_000070.3(CAPN3):c.2185-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	42410638	C	A	C42410638A	CAPN3	NM_000070.3(CAPN3):c.2235C>A:p.Tyr745Ter	coding	Pathogenic
15	42410645	C	G	C42410645G	CAPN3	NM_000070.3(CAPN3):c.2242C>G:p.Arg748Gly	coding	Pathogenic
15	42410645	C	T	C42410645T	CAPN3	NM_000070.3(CAPN3):c.2242C>T:p.Arg748Ter	coding	Pathogenic
15	42410646	G	A	G42410646A	CAPN3	NM_000070.3(CAPN3):c.2243G>A:p.Arg748Gln	coding	Pathogenic/Likely_pathogenic
15	42410667	G	A	G42410667A	CAPN3	NM_000070.3(CAPN3):c.2263+1G>A	coding	Pathogenic
15	42410908	A	G	A42410908G	CAPN3	NM_000070.3(CAPN3):c.2288A>G:p.Tyr763Cys	coding	Pathogenic/Likely_pathogenic
15	42410925	C	T	C42410925T	CAPN3	NM_000070.3(CAPN3):c.2305C>T:p.Arg769Trp	coding	Pathogenic/Likely_pathogenic
15	42410926	G	A	G42410926A	CAPN3	NM_000070.3(CAPN3):c.2306G>A:p.Arg769Gln	coding	Pathogenic
15	42410952	G	A	G42410952A	CAPN3	NM_000070.3(CAPN3):c.2332G>A:p.Asp778Asn	coding	Benign/Likely_benign
15	42410958	G	C	G42410958C	CAPN3	NM_000070.3(CAPN3):c.2338G>C:p.Asp780His	coding	Pathogenic
15	42411208	T	C	T42411208C	CAPN3	NM_000070.3(CAPN3):c.2381-79T>C	noncoding	Benign
15	42411285	A	G	A42411285G	CAPN3	NM_000070.3(CAPN3):c.2381-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	42411299	C	A	C42411299A	CAPN3	NM_000070.3(CAPN3):c.2393C>A:p.Ala798Glu	coding	Pathogenic
15	42411907	C	T	C42411907T	CAPN3	NM_000070.3(CAPN3):c.*134C>T	noncoding	Benign
15	42417798	A	C	A42417798C	ZNF106	NM_022473.2(ZNF106):c.5595+7T>G	noncoding	Benign
15	42444880	C	T	C42444880T	ZNF106	NM_022473.2(ZNF106):c.3238G>A:p.Ala1080Thr	coding	Benign
15	42669262	C	T	C42669262T	STARD9	NM_020759.3(STARD9):c.1422C>T:p.Ile474=	coding	Benign
15	42674896	G	A	G42674896A	STARD9	NM_020759.3(STARD9):c.1619G>A:p.Arg540Gln	coding	Benign
15	42675942	G	A	G42675942A	STARD9	NM_020759.3(STARD9):c.1841G>A:p.Arg614Gln	coding	Benign
15	42684242	G	A	G42684242A	STARD9	NM_020759.3(STARD9):c.2664G>A:p.Gly888=	coding	Benign
15	42685068	G	C	G42685068C	STARD9	NM_020759.3(STARD9):c.3490G>C:p.Gly1164Arg	coding	Benign
15	42685147	C	T	C42685147T	STARD9	NM_020759.3(STARD9):c.3569C>T:p.Ser1190Leu	coding	Benign
15	42685262	C	T	C42685262T	STARD9	NM_020759.3(STARD9):c.3684C>T:p.Asp1228=	coding	Benign
15	42685462	C	T	C42685462T	STARD9	NM_020759.3(STARD9):c.3884C>T:p.Pro1295Leu	coding	Benign
15	42685612	T	G	T42685612G	STARD9	NM_020759.3(STARD9):c.4034T>G:p.Ile1345Ser	coding	Benign
15	42685904	C	T	C42685904T	STARD9	NM_020759.3(STARD9):c.4326C>T:p.Gly1442=	coding	Benign
15	42686228	T	A	T42686228A	STARD9	NM_020759.3(STARD9):c.4650T>A:p.His1550Gln	coding	Benign
15	42687258	T	G	T42687258G	STARD9	NM_020759.3(STARD9):c.5680T>G:p.Cys1894Gly	coding	Benign
15	42687887	C	T	C42687887T	STARD9	NM_020759.3(STARD9):c.6309C>T:p.Ser2103=	coding	Benign
15	42689179	C	T	C42689179T	STARD9	NM_020759.3(STARD9):c.7601C>T:p.Pro2534Leu	coding	Benign
15	42689780	G	A	G42689780A	STARD9	NM_020759.3(STARD9):c.8202G>A:p.Arg2734=	coding	Benign
15	42689926	A	G	A42689926G	STARD9	NM_020759.3(STARD9):c.8348A>G:p.His2783Arg	coding	Benign
15	42690385	G	T	G42690385T	STARD9	NM_020759.3(STARD9):c.8807G>T:p.Gly2936Val	coding	Benign
15	42690957	G	A	G42690957A	STARD9	NM_020759.3(STARD9):c.9379G>A:p.Val3127Met	coding	Benign
15	42691544	C	A	C42691544A	STARD9	NM_020759.3(STARD9):c.9966C>A:p.Pro3322=	coding	Benign
15	42691721	C	G	C42691721G	STARD9	NM_020759.3(STARD9):c.10143C>G:p.Asp3381Glu	coding	Benign
15	42691981	C	G	C42691981G	STARD9	NM_020759.3(STARD9):c.10403C>G:p.Pro3468Arg	coding	Benign
15	42692627	C	T	C42692627T	STARD9	NM_020759.3(STARD9):c.11049C>T:p.His3683=	coding	Benign
15	42692694	A	C	A42692694C	STARD9	NM_020759.3(STARD9):c.11116A>C:p.Arg3706=	coding	Benign
15	42693200	C	T	C42693200T	STARD9	NM_020759.3(STARD9):c.11622C>T:p.Ser3874=	coding	Benign
15	42693801	C	A	C42693801A	STARD9	NM_020759.3(STARD9):c.12223C>A:p.Arg4075=	coding	Benign
15	42693844	C	A	C42693844A	STARD9	NM_020759.3(STARD9):c.12266C>A:p.Pro4089His	coding	Benign
15	42693867	G	A	G42693867A	STARD9	NM_020759.3(STARD9):c.12289G>A:p.Ala4097Thr	coding	Benign
15	42694169	C	T	C42694169T	STARD9	NM_020759.3(STARD9):c.12591C>T:p.Ile4197=	coding	Benign
15	42694589	C	T	C42694589T	STARD9	NM_020759.3(STARD9):c.12826C>T:p.Arg4276Trp	coding	Benign
15	42695854	G	C	G42695854C	STARD9	NM_020759.3(STARD9):c.13258G>C:p.Gly4420Arg	coding	Benign
15	42716773	C	A	C42716773A	STARD9	NM_020759.3(STARD9):c.13372+9C>A	noncoding	Benign
15	42716774	G	A	G42716774A	STARD9	NM_020759.3(STARD9):c.13372+10G>A	noncoding	Benign
15	42724277	A	G	A42724277G	CDAN1	NM_138477.4(CDAN1):c.*214T>C	noncoding	Benign
15	42724349	T	C	T42724349C	CDAN1	NM_138477.4(CDAN1):c.*142A>G	noncoding	Benign
15	42724509	A	G	A42724509G	CDAN1	NM_138477.4(CDAN1):c.3666T>C:p.Thr1222=	coding	Benign
15	42725228	T	G	T42725228G	CDAN1	NM_138477.4(CDAN1):c.3474A>C:p.Leu1158=	coding	Benign
15	42725478	G	A	G42725478A	CDAN1	NM_138477.4(CDAN1):c.3450+11C>T	noncoding	Benign
15	42725550	G	A	G42725550A	CDAN1	NM_138477.4(CDAN1):c.3389C>T:p.Pro1130Leu	coding	Pathogenic
15	42726361	C	T	C42726361T	CDAN1	NM_138477.4(CDAN1):c.3153G>A:p.Glu1051=	coding	Benign
15	42726390	G	A	G42726390A	CDAN1	NM_138477.4(CDAN1):c.3124C>T:p.Arg1042Trp	coding	Pathogenic
15	42727782	G	A	G42727782A	CDAN1	NM_138477.4(CDAN1):c.2948-13C>T	noncoding	Benign
15	42728038	G	A	G42728038A	CDAN1	NM_138477.4(CDAN1):c.2869-5C>T	noncoding	Benign/Likely_benign
15	42728236	G	A	G42728236A	CDAN1	NM_138477.4(CDAN1):c.2836C>T:p.Arg946Trp	coding	Benign/Likely_benign
15	42728706	A	C	A42728706C	CDAN1	NM_138477.4(CDAN1):c.2750T>G:p.Ile917Ser	coding	Benign
15	42728718	T	A	T42728718A	CDAN1	NM_138477.4(CDAN1):c.2738A>T:p.Gln913Leu	coding	Benign
15	42728756	C	T	C42728756T	CDAN1	NM_138477.4(CDAN1):c.2700G>A:p.Gln900=	coding	Benign
15	42728785	G	A	G42728785A	CDAN1	NM_138477.4(CDAN1):c.2671C>T:p.Arg891Cys	coding	Benign
15	42729066	A	T	A42729066T	CDAN1	NM_138477.4(CDAN1):c.2602T>A:p.Phe868Ile	coding	Pathogenic
15	42729307	C	T	C42729307T	CDAN1	NM_138477.4(CDAN1):c.2463G>A:p.Gly821=	coding	Benign/Likely_benign
15	42729325	G	A	G42729325A	CDAN1	NM_138477.4(CDAN1):c.2445C>T:p.Gly815=	coding	Benign
15	42729365	G	A	G42729365A	CDAN1	NM_138477.4(CDAN1):c.2408-3C>T	noncoding	Benign
15	42729788	G	A	G42729788A	CDAN1	NM_138477.4(CDAN1):c.2352+8C>T	noncoding	Benign
15	42729890	C	T	C42729890T	CDAN1	NM_138477.4(CDAN1):c.2263-5G>A	noncoding	Benign/Likely_benign
15	42730705	C	T	C42730705T	CDAN1	NM_138477.4(CDAN1):c.2067G>A:p.Ala689=	coding	Benign/Likely_benign
15	42730757	G	A	G42730757A	CDAN1	NM_138477.2(CDAN1):c.2015C>T:p.Pro672Leu	coding	Pathogenic/Likely_pathogenic
15	42730963	C	T	C42730963T	CDAN1	NM_138477.4(CDAN1):c.1969G>A:p.Gly657Ser	coding	Benign
15	42730964	G	A	G42730964A	CDAN1	NM_138477.4(CDAN1):c.1968C>T:p.Thr656=	coding	Benign
15	42731206	C	T	C42731206T	CDAN1	NM_138477.4(CDAN1):c.1860+5G>A	noncoding	Pathogenic
15	42731275	T	C	T42731275C	CDAN1	NM_138477.4(CDAN1):c.1796A>G:p.Asn599Ser	coding	Pathogenic
15	42731284	T	C	T42731284C	CDAN1	NM_138477.4(CDAN1):c.1787A>G:p.Gln596Arg	coding	Benign
15	42732342	T	C	T42732342C	CDAN1	NM_138477.4(CDAN1):c.1524A>G:p.Gln508=	coding	Benign/Likely_benign
15	42734244	A	T	A42734244T	CDAN1	NM_138477.4(CDAN1):c.1239T>A:p.Tyr413Ter	coding	Pathogenic
15	42735547	C	T	C42735547T	CDAN1	NM_138477.4(CDAN1):c.906G>A:p.Leu302=	coding	Benign
15	42735637	G	T	G42735637T	CDAN1	NM_138477.4(CDAN1):c.816C>A:p.Thr272=	coding	Benign
15	42736313	G	C	G42736313C	CDAN1	NM_138477.4(CDAN1):c.558C>G:p.Pro186=	coding	Benign
15	42736394	G	A	G42736394A	CDAN1	NM_138477.4(CDAN1):c.477C>T:p.Pro159=	coding	Benign
15	42736428	G	A	G42736428A	CDAN1	NM_138477.4(CDAN1):c.443C>T:p.Ala148Val	coding	Benign
15	42736485	C	T	C42736485T	CDAN1	NM_138477.4(CDAN1):c.386G>A:p.Arg129His	coding	Benign/Likely_benign
15	42736551	T	A	T42736551A	CDAN1	NM_138477.4(CDAN1):c.320A>T:p.Gln107Leu	coding	Benign
15	42736562	C	A	C42736562A	CDAN1	NM_138477.4(CDAN1):c.309G>T:p.Pro103=	coding	Benign
15	42736714	G	A	G42736714A	CDAN1	NM_138477.4(CDAN1):c.157C>T:p.Leu53=	coding	Benign
15	42744633	A	T	A42744633T	TTBK2	NM_173500.4(TTBK2):c.*1162T>A	noncoding	Benign
15	42744829	G	A	G42744829A	TTBK2	NM_173500.4(TTBK2):c.*966C>T	noncoding	Benign
15	42745214	T	A	T42745214A	TTBK2	NM_173500.4(TTBK2):c.*581A>T	noncoding	Benign
15	42745305	A	G	A42745305G	TTBK2	NM_173500.4(TTBK2):c.*490T>C	noncoding	Benign
15	42745861	G	A	G42745861A	TTBK2	NM_173500.4(TTBK2):c.3669C>T:p.His1223=	coding	Benign
15	42746013	G	A	G42746013A	TTBK2	NM_173500.4(TTBK2):c.3517C>T:p.Arg1173Trp	coding	Benign
15	42746199	G	C	G42746199C	TTBK2	NM_173500.4(TTBK2):c.3331C>G:p.Leu1111Val	coding	Benign
15	42746201	C	T	C42746201T	TTBK2	NM_173500.4(TTBK2):c.3329G>A:p.Arg1110His	coding	Benign
15	42751995	G	A	G42751995A	TTBK2	NM_173500.4(TTBK2):c.3251C>T:p.Thr1084Met	coding	Benign
15	42752061	G	A	G42752061A	TTBK2	NM_173500.4(TTBK2):c.3185C>T:p.Thr1062Ile	coding	Benign
15	42752225	T	C	T42752225C	TTBK2	NM_173500.4(TTBK2):c.3021A>G:p.Leu1007=	coding	Benign/Likely_benign
15	42752305	G	C	G42752305C	TTBK2	NM_173500.4(TTBK2):c.2941C>G:p.Leu981Val	coding	Benign/Likely_benign
15	42752654	T	C	T42752654C	TTBK2	NM_173500.4(TTBK2):c.2592A>G:p.Glu864=	coding	Benign
15	42752796	G	C	G42752796C	TTBK2	NM_173500.4(TTBK2):c.2450C>G:p.Ser817Ter	coding	Pathogenic
15	42752828	T	C	T42752828C	TTBK2	NM_173500.4(TTBK2):c.2418A>G:p.Pro806=	coding	Benign
15	42753036	A	G	A42753036G	TTBK2	NM_173500.4(TTBK2):c.2210T>C:p.Ile737Thr	coding	Benign
15	42753075	C	T	C42753075T	TTBK2	NM_173500.4(TTBK2):c.2171G>A:p.Gly724Glu	coding	Benign
15	42753113	G	T	G42753113T	TTBK2	NM_173500.4(TTBK2):c.2133C>A:p.Phe711Leu	coding	Benign
15	42775184	G	A	G42775184A	TTBK2	NM_173500.4(TTBK2):c.1949C>T:p.Ala650Val	coding	Benign
15	42775204	A	G	A42775204G	TTBK2	NM_173500.4(TTBK2):c.1929T>C:p.Ala643=	coding	Benign
15	42775515	G	A	G42775515A	TTBK2	NM_173500.4(TTBK2):c.1618C>T:p.Leu540=	coding	Benign/Likely_benign
15	42775634	C	G	C42775634G	TTBK2	NM_173500.4(TTBK2):c.1499G>C:p.Arg500Pro	coding	Benign
15	42777086	C	T	C42777086T	TTBK2	NM_173500.4(TTBK2):c.1354G>A:p.Glu452Lys	coding	Benign/Likely_benign
15	42783511	G	A	G42783511A	TTBK2	NM_173500.4(TTBK2):c.1105C>T:p.Pro369Ser	coding	Benign
15	42783516	T	A	T42783516A	TTBK2	NM_173500.4(TTBK2):c.1100A>T:p.Lys367Ile	coding	Benign/Likely_benign
15	42783557	G	A	G42783557A	TTBK2	NM_173500.4(TTBK2):c.1059C>T:p.Ser353=	coding	Benign
15	42794636	G	T	G42794636T	TTBK2	NM_173500.4(TTBK2):c.980+8C>A	noncoding	Benign
15	42794687	T	C	T42794687C	TTBK2	NM_173500.4(TTBK2):c.937A>G:p.Thr313Ala	coding	Benign
15	42817094	G	A	G42817094A	TTBK2	NM_173500.4(TTBK2):c.541C>T:p.Arg181Ter	coding	Pathogenic
15	42872684	T	G	T42872684G	TTBK2	NM_173500.4(TTBK2):c.144A>C:p.Ala48=	coding	Benign
15	42878595	A	G	A42878595G	TTBK2	NM_173500.4(TTBK2):c.23T>C:p.Leu8Pro	coding	Benign
15	42878625	C	T	C42878625T	TTBK2	NM_173500.4(TTBK2):c.-8G>A	noncoding	Benign
15	42920620	C	G	C42920620G	TTBK2	NM_173500.4(TTBK2):c.-250G>C	noncoding	Benign
15	42920783	C	G	C42920783G	TTBK2	NM_173500.3(TTBK2):c.-413G>C	noncoding	Benign
15	42945374	T	C	T42945374C	UBR1	NM_174916.3(UBR1):c.5205A>G:p.Gln1735=	coding	Benign
15	42952346	G	A	G42952346A	UBR1	NM_174916.3(UBR1):c.4938C>T:p.Asn1646=	coding	Benign
15	42958045	A	G	A42958045G	UBR1	NM_174916.3(UBR1):c.4803T>C:p.Tyr1601=	coding	Benign/Likely_benign
15	42963923	T	C	T42963923C	UBR1	NM_174916.3(UBR1):c.4700+12A>G	noncoding	Benign
15	42963993	T	C	T42963993C	UBR1	NM_174916.3(UBR1):c.4642A>G:p.Thr1548Ala	coding	Benign
15	42983903	G	A	G42983903A	UBR1	NM_174916.3(UBR1):c.4144C>T:p.Leu1382=	coding	Benign
15	42983940	A	T	A42983940T	UBR1	NM_174916.3(UBR1):c.4107T>A:p.Cys1369Ter	coding	Pathogenic
15	42983970	C	T	C42983970T	UBR1	NM_174916.3(UBR1):c.4077G>A:p.Met1359Ile	coding	Benign
15	42983997	G	C	G42983997C	UBR1	NM_174916.3(UBR1):c.4054-4C>G	noncoding	Benign
15	42988943	C	T	C42988943T	UBR1	NM_174916.3(UBR1):c.3873G>A:p.Lys1291=	coding	Benign
15	42990087	C	T	C42990087T	UBR1	NM_174916.3(UBR1):c.3791G>A:p.Gly1264Glu	coding	Benign
15	42998184	A	T	A42998184T	UBR1	NM_174916.3(UBR1):c.3741T>A:p.Asn1247Lys	coding	Benign
15	43003854	G	A	G43003854A	UBR1	NM_174916.3(UBR1):c.3492C>T:p.His1164=	coding	Benign
15	43015842	G	A	G43015842A	UBR1	NM_174916.3(UBR1):c.3055C>T:p.Arg1019Ter	coding	Pathogenic
15	43022697	C	T	C43022697T	UBR1	NM_174916.3(UBR1):c.2839+5G>A	noncoding	Pathogenic
15	43024832	T	C	T43024832C	UBR1	NM_174916.3(UBR1):c.2736A>G:p.Gln912=	coding	Benign
15	43024873	T	C	T43024873C	UBR1	NM_174916.3(UBR1):c.2695A>G:p.Ile899Val	coding	Benign
15	43024987	T	C	T43024987C	UBR1	NM_174916.3(UBR1):c.2585-4A>G	noncoding	Benign
15	43043277	T	A	T43043277A	UBR1	NM_174916.3(UBR1):c.1787A>T:p.Lys596Met	coding	Benign
15	43048394	G	A	G43048394A	UBR1	NM_174916.3(UBR1):c.1537C>T:p.Gln513Ter	coding	Pathogenic
15	43048492	C	T	C43048492T	UBR1	NM_174916.3(UBR1):c.1440-1G>A	coding	Pathogenic
15	43056412	T	C	T43056412C	UBR1	NM_174916.3(UBR1):c.1213A>G:p.Ser405Gly	coding	Benign/Likely_benign
15	43059843	G	A	G43059843A	UBR1	NM_174916.3(UBR1):c.862-18C>T	noncoding	Benign
15	43070800	C	A	C43070800A	UBR1	NM_174916.3(UBR1):c.654G>T:p.Gln218His	coding	Benign
15	43082648	T	C	T43082648C	UBR1	NM_174916.3(UBR1):c.407A>G:p.His136Arg	coding	Pathogenic
15	43086079	T	C	T43086079C	UBR1	NM_174916.3(UBR1):c.243A>G:p.Glu81=	coding	Benign
15	43105976	G	A	G43105976A	UBR1	NM_174916.3(UBR1):c.47C>T:p.Ala16Val	coding	Benign
15	43203237	C	A	C43203237A	EPB42	NM_000119.2(EPB42):c.1747G>T:p.Glu583Ter	coding	Pathogenic
15	43207195	G	A	G43207195A	EPB42	NM_000119.3(EPB42):c.1408+4C>T	noncoding	Benign/Likely_benign
15	43208749	G	A	G43208749A	EPB42	NM_000119.3(EPB42):c.949C>T:p.Arg317Cys	coding	Pathogenic
15	43208769	C	T	C43208769T	EPB42	NM_000119.2(EPB42):c.929G>A:p.Arg310Gln	coding	Pathogenic
15	43208779	T	C	T43208779C	EPB42	NM_000119.3(EPB42):c.923-4A>G	noncoding	Benign
15	43209273	C	T	C43209273T	EPB42	NM_000119.2(EPB42):c.922+1G>A	noncoding	Pathogenic
15	43209276	G	A	G43209276A	EPB42	NM_000119.3(EPB42):c.920C>T:p.Thr307Ile	coding	Pathogenic
15	43209365	G	T	G43209365T	EPB42	NM_000119.3(EPB42):c.831C>A:p.Gly277=	coding	Benign
15	43210328	C	T	C43210328T	EPB42	NM_000119.3(EPB42):c.744+7G>A	noncoding	Benign/Likely_benign
15	43211532	C	A	C43211532A	EPB42	NM_000119.3(EPB42):c.523G>T:p.Asp175Tyr	coding	Pathogenic
15	43215195	C	T	C43215195T	EPB42	NM_000119.3(EPB42):c.420G>A:p.Ala140=	coding	Benign
15	43220797	G	A	G43220797A	EPB42	NM_000119.3(EPB42):c.29C>T:p.Ser10Leu	coding	Benign/Likely_benign
15	43220876	A	G	A43220876G	EPB42	NM_000119.3(EPB42):c.-51T>C	noncoding	Benign
15	43232939	G	A	G43232939A	TGM5	NM_201631.4(TGM5):c.*252C>T	noncoding	Benign
15	43233577	G	A	G43233577A	TGM5	NM_201631.4(TGM5):c.1986C>T:p.Leu662=	coding	Benign
15	43233593	A	G	A43233593G	TGM5	NM_201631.4(TGM5):c.1970T>C:p.Val657Ala	coding	Benign
15	43234822	T	C	T43234822C	TGM5	NM_201631.4(TGM5):c.1822A>G:p.Lys608Glu	coding	Benign
15	43234871	G	A	G43234871A	TGM5	NM_201631.4(TGM5):c.1773C>T:p.Asp591=	coding	Benign/Likely_benign
15	43235621	T	C	T43235621C	TGM5	NM_201631.4(TGM5):c.1562A>G:p.Gln521Arg	coding	Benign
15	43235673	C	T	C43235673T	TGM5	NM_201631.4(TGM5):c.1510G>A:p.Val504Met	coding	Benign
15	43238827	C	G	C43238827G	TGM5	NM_201631.4(TGM5):c.1335G>C:p.Lys445Asn	coding	Pathogenic
15	43238853	G	A	G43238853A	TGM5	NM_201631.4(TGM5):c.1309C>T:p.Arg437Trp	coding	Benign
15	43238965	C	T	C43238965T	TGM5	NM_201631.4(TGM5):c.1197G>A:p.Val399=	coding	Benign
15	43239063	G	A	G43239063A	TGM5	NM_201631.4(TGM5):c.1106-7C>T	noncoding	Benign
15	43239213	G	C	G43239213C	TGM5	NM_201631.4(TGM5):c.1055C>G:p.Ala352Gly	coding	Benign
15	43240893	G	A	G43240893A	TGM5	NM_201631.4(TGM5):c.960C>T:p.Asn320=	coding	Benign
15	43252858	A	G	A43252858G	TGM5	NM_201631.4(TGM5):c.763T>C:p.Trp255Arg	coding	Pathogenic
15	43253530	G	A	G43253530A	TGM5	NM_201631.4(TGM5):c.660C>T:p.Tyr220=	coding	Benign
15	43253536	G	A	G43253536A	TGM5	NM_201631.4(TGM5):c.654C>T:p.Pro218=	coding	Benign
15	43253639	G	A	G43253639A	TGM5	NM_201631.4(TGM5):c.556-5C>T	noncoding	Benign
15	43260151	C	A	C43260151A	TGM5	NM_201631.4(TGM5):c.337G>T:p.Gly113Cys	coding	Pathogenic
15	43260162	G	A	G43260162A	TGM5	NM_201631.4(TGM5):c.326C>T:p.Thr109Met	coding	Benign
15	43260174	C	T	C43260174T	TGM5	NM_201631.4(TGM5):c.314G>A:p.Cys105Tyr	coding	Benign
15	43260206	G	C	G43260206C	TGM5	NM_201631.4(TGM5):c.282C>G:p.Thr94=	coding	Benign/Likely_benign
15	43260486	C	T	C43260486T	TGM5	NM_201631.4(TGM5):c.104G>A:p.Arg35Gln	coding	Pathogenic/Likely_pathogenic
15	43260546	G	C	G43260546C	TGM5	NM_201631.4(TGM5):c.44C>G:p.Ser15Cys	coding	Benign
15	43266829	G	A	G43266829A	TGM5	NM_201631.4(TGM5):c.10+11C>T	noncoding	Benign
15	43343049	A	G	A43343049G	ADAL	NM_001324366.2(ADAL):c.399A>G:p.Lys133=	coding	Benign
15	43348987	C	T	C43348987T	ADAL	NM_001324366.2(ADAL):c.714C>T:p.Ser238=	coding	Benign
15	43377051	A	G	A43377051G	TUBGCP4	NM_014444.5(TUBGCP4):c.368A>G:p.Asn123Ser	coding	Benign
15	43380079	C	T	C43380079T	TUBGCP4	NM_014444.5(TUBGCP4):c.442-5C>T	noncoding	Benign
15	43383337	C	T	C43383337T	TUBGCP4	NM_014444.5(TUBGCP4):c.556C>T:p.Gln186Ter	coding	Pathogenic
15	43385798	T	C	T43385798C	TUBGCP4	NM_014444.5(TUBGCP4):c.731T>C:p.Ile244Thr	coding	Benign
15	43385898	A	G	A43385898G	TUBGCP4	NM_014444.5(TUBGCP4):c.831A>G:p.Leu277=	coding	Benign
15	43385919	G	A	G43385919A	TUBGCP4	NM_014444.5(TUBGCP4):c.852G>A:p.Gln284=	coding	Benign
15	43386283	G	T	G43386283T	TUBGCP4	NM_014444.5(TUBGCP4):c.967G>T:p.Val323Leu	coding	Benign
15	43395164	G	A	G43395164A	TUBGCP4	NM_014444.5(TUBGCP4):c.1065+7G>A	noncoding	Benign/Likely_benign
15	43395603	T	C	T43395603C	TUBGCP4	NM_014444.5(TUBGCP4):c.1086T>C:p.Leu362=	coding	Benign
15	43397296	C	T	C43397296T	TUBGCP4	NM_014444.5(TUBGCP4):c.1254C>T:p.Ile418=	coding	Benign
15	43398141	G	A	G43398141A	TUBGCP4	NM_014444.5(TUBGCP4):c.1380G>A:p.Trp460Ter	coding	Pathogenic
15	43400206	T	G	T43400206G	TUBGCP4	NM_014444.5(TUBGCP4):c.1581T>G:p.Leu527=	coding	Benign
15	43401770	C	T	C43401770T	TUBGCP4	NM_014444.5(TUBGCP4):c.1651C>T:p.Arg551Ter	coding	Pathogenic
15	43403697	G	T	G43403697T	TUBGCP4	NM_014444.5(TUBGCP4):c.1746G>T:p.Leu582=	coding	Pathogenic/Likely_pathogenic
15	43420654	G	A	G43420654A	TP53BP1	NM_001141980.3(TP53BP1):c.4332C>T:p.Val1444=	coding	Benign
15	43420678	T	C	T43420678C	TP53BP1	NM_001141980.3(TP53BP1):c.4308A>G:p.Pro1436=	coding	Benign
15	43456241	G	C	G43456241C	TP53BP1	NM_001141980.3(TP53BP1):c.2367C>G:p.Ser789=	coding	Benign
15	43456358	A	T	A43456358T	TP53BP1	NM_001141980.3(TP53BP1):c.2250T>A:p.Ala750=	coding	Benign
15	43456497	T	C	T43456497C	TP53BP1	NM_001141980.3(TP53BP1):c.2111A>G:p.Gln704Arg	coding	Benign
15	43456951	T	C	T43456951C	TP53BP1	NM_001141980.3(TP53BP1):c.1657A>G:p.Thr553Ala	coding	Benign
15	43475663	C	T	C43475663T	TP53BP1	NM_001141980.3(TP53BP1):c.987G>A:p.Arg329=	coding	Benign
15	43477653	A	G	A43477653G	TP53BP1	NM_001141980.3(TP53BP1):c.895T>C:p.Ser299Pro	coding	Benign
15	43522919	A	G	A43522919G	MAP1A	NM_002373.6(MAP1A):c.1446A>G:p.Gly482=	coding	Benign
15	43525406	C	T	C43525406T	MAP1A	NM_002373.6(MAP1A):c.3933C>T:p.Ser1311=	coding	Benign
15	43526105	A	G	A43526105G	MAP1A	NM_002373.6(MAP1A):c.4632A>G:p.Ser1544=	coding	Benign
15	43526334	C	G	C43526334G	MAP1A	NM_002373.6(MAP1A):c.4861C>G:p.Leu1621Val	coding	Benign
15	43599215	G	A	G43599215A	CKMT1B	NM_001375484.1(CKMT1B):c.1196G>A:p.Arg399His	coding	Benign
15	43599999	A	G	A43599999G	STRC	NM_153700.2(STRC):c.5200T>C:p.Trp1734Arg	coding	Benign/Likely_benign
15	43600610	T	G	T43600610G	STRC	NM_153700.2(STRC):c.4917A>C:p.Leu1639=	coding	Benign
15	43600649	G	C	G43600649C	STRC	NM_153700.2(STRC):c.4878C>G:p.Leu1626=	coding	Benign
15	43600664	G	C	G43600664C	STRC	NM_153700.2(STRC):c.4863C>G:p.Leu1621=	coding	Benign
15	43600695	A	G	A43600695G	STRC	NM_153700.2(STRC):c.4845-13T>C	noncoding	Benign
15	43600874	G	A	G43600874A	STRC	NM_153700.2(STRC):c.4842C>T:p.Phe1614=	coding	Benign
15	43600879	C	A	C43600879A	STRC	NM_153700.2(STRC):c.4837G>T:p.Glu1613Ter	coding	Pathogenic
15	43601395	C	T	C43601395T	STRC	NM_153700.2(STRC):c.4701+1G>A	noncoding	Pathogenic
15	43601535	C	T	C43601535T	STRC	NM_153700.2(STRC):c.4562G>A:p.Arg1521Gln	coding	Benign
15	43601536	G	A	G43601536A	STRC	NM_153700.2(STRC):c.4561C>T:p.Arg1521Trp	coding	Benign
15	43603385	G	A	G43603385A	STRC	NM_153700.2(STRC):c.4402C>T:p.Arg1468Ter	coding	Pathogenic
15	43603995	C	T	C43603995T	STRC	NM_153700.2(STRC):c.4375+1G>A	noncoding	Pathogenic
15	43604153	C	T	C43604153T	STRC	NM_153700.2(STRC):c.4219-1G>A	coding	Pathogenic/Likely_pathogenic
15	43604384	C	A	C43604384A	STRC	NM_153700.2(STRC):c.4195G>T:p.Glu1399Ter	coding	Pathogenic
15	43604642	G	A	G43604642A	STRC	NM_153700.2(STRC):c.4127+8C>T	noncoding	Benign/Likely_benign
15	43604720	G	A	G43604720A	STRC	NM_153700.2(STRC):c.4057C>T:p.Gln1353Ter	coding	Pathogenic
15	43604742	C	G	C43604742G	STRC	NM_153700.2(STRC):c.4035G>C:p.Leu1345=	coding	Benign
15	43604750	G	A	G43604750A	STRC	NM_153700.2(STRC):c.4027C>T:p.Gln1343Ter	coding	Pathogenic/Likely_pathogenic
15	43605301	T	C	T43605301C	STRC	NM_153700.2(STRC):c.3893A>G:p.His1298Arg	coding	Benign
15	43607955	C	T	C43607955T	STRC	NM_153700.2(STRC):c.3702G>A:p.Glu1234=	coding	Benign
15	43608091	G	A	G43608091A	STRC	NM_153700.2(STRC):c.3670C>T:p.Arg1224Ter	coding	Pathogenic
15	43609293	A	C	A43609293C	STRC	NM_153700.2(STRC):c.3540T>G:p.Leu1180=	coding	Benign
15	43610317	G	A	G43610317A	STRC	NM_153700.2(STRC):c.3493C>T:p.Gln1165Ter	coding	Pathogenic
15	43610350	G	A	G43610350A	STRC	NM_153700.2(STRC):c.3460C>T:p.Arg1154Ter	coding	Pathogenic/Likely_pathogenic
15	43610931	A	G	A43610931G	STRC	NM_153700.2(STRC):c.3360T>C:p.Cys1120=	coding	Benign
15	43611237	G	A	G43611237A	STRC	NM_153700.2(STRC):c.3217C>T:p.Arg1073Ter	coding	Pathogenic
15	43616480	G	T	G43616480T	STRC	NM_153700.2(STRC):c.1086C>A:p.Tyr362Ter	coding	Pathogenic
15	43616686	C	T	C43616686T	STRC	NM_153700.2(STRC):c.880G>A:p.Val294Ile	coding	Benign
15	43617923	C	T	C43617923T	STRC	NM_153700.2(STRC):c.498G>A:p.Pro166=	coding	Benign/Likely_benign
15	43618042	G	A	G43618042A	STRC	NM_153700.2(STRC):c.379C>T:p.Arg127Ter	coding	Pathogenic
15	43618088	C	A	C43618088A	STRC	NM_153700.2(STRC):c.333G>T:p.Gly111=	coding	Benign
15	43618162	G	A	G43618162A	STRC	NM_153700.2(STRC):c.259C>T:p.Gln87Ter	coding	Pathogenic
15	43618242	A	G	A43618242G	STRC	NM_153700.2(STRC):c.179T>C:p.Phe60Ser	coding	Benign
15	43632936	T	A	T43632936A	CATSPER2	NM_172095.4(CATSPER2):c.1179-2A>T	noncoding	Benign
15	43632937	T	G	T43632937G	CATSPER2	NM_172095.4(CATSPER2):c.1179-3A>C	noncoding	Benign
15	43632942	A	G	A43632942G	CATSPER2	NM_172095.4(CATSPER2):c.1179-8T>C	noncoding	Benign
15	43647444	C	T	C43647444T	CATSPER2	NM_172095.4(CATSPER2):c.169G>A:p.Val57Ile	coding	Benign
15	43746595	C	T	C43746595T	PDIA3	NM_005313.5(PDIA3):c.56C>T:p.Ala19Val	coding	Benign
15	43753815	C	T	C43753815T	PDIA3	NM_005313.5(PDIA3):c.168-9C>T	noncoding	Benign
15	43766740	G	A	G43766740A	PDIA3	NM_005313.5(PDIA3):c.858G>A:p.Val286=	coding	Benign
15	43800658	G	A	G43800658A	HYPK	NM_016400.4(HYPK):c.36G>A:p.Glu12=	coding	Benign
15	43801560	G	A	G43801560A	HYPK	NM_016400.4(HYPK):c.261G>A:p.Leu87=	coding	Benign
15	43801716	T	C	T43801716C	HYPK	NM_016400.4(HYPK):c.276T>C:p.Thr92=	coding	Benign
15	43874320	A	G	A43874320G	FRMD5	NM_032892.5(FRMD5):c.1278T>C:p.Pro426=	coding	Benign
15	43902199	A	G	A43902199G	FRMD5	NM_032892.5(FRMD5):c.615T>C:p.Tyr205=	coding	Benign
15	43905837	G	A	G43905837A	FRMD5	NM_032892.5(FRMD5):c.542C>T:p.Thr181Met	coding	Benign
15	44337899	A	C	A44337899C	GOLM2	NM_138423.4(GOLM2):c.713A>C:p.His238Pro	coding	Benign
15	44490806	A	G	A44490806G	CTDSPL2	NM_016396.3(CTDSPL2):c.498A>G:p.Pro166=	coding	Benign
15	44496419	C	T	C44496419T	CTDSPL2	NM_016396.3(CTDSPL2):c.731C>T:p.Ala244Val	coding	Benign
15	44563298	A	T	A44563298T	SPG11	NM_025137.4(SPG11):c.7155T>A:p.Tyr2385Ter	coding	Pathogenic
15	44563302	C	G	C44563302G	SPG11	NM_025137.4(SPG11):c.7152-1G>C	coding	Pathogenic
15	44564593	G	A	G44564593A	SPG11	NM_025137.4(SPG11):c.7105C>T:p.Gln2369Ter	coding	Pathogenic
15	44564642	G	T	G44564642T	SPG11	NM_025137.4(SPG11):c.7056C>A:p.Tyr2352Ter	coding	Pathogenic
15	44564675	G	T	G44564675T	SPG11	NM_025137.4(SPG11):c.7023C>A:p.Tyr2341Ter	coding	Pathogenic
15	44565954	A	G	A44565954G	SPG11	NM_025137.4(SPG11):c.6899T>C:p.Leu2300Pro	coding	Pathogenic/Likely_pathogenic
15	44565961	T	C	T44565961C	SPG11	NM_025137.4(SPG11):c.6892A>G:p.Ile2298Val	coding	Benign/Likely_benign
15	44565997	G	A	G44565997A	SPG11	NM_025137.4(SPG11):c.6856C>T:p.Arg2286Ter	coding	Pathogenic
15	44567405	T	C	T44567405C	SPG11	NM_025137.4(SPG11):c.6754+19A>G	noncoding	Benign
15	44567425	C	T	C44567425T	SPG11	NM_025137.4(SPG11):c.6753G>A:p.Trp2251Ter	coding	Pathogenic
15	44567454	G	A	G44567454A	SPG11	NM_025137.4(SPG11):c.6724C>T:p.Gln2242Ter	coding	Pathogenic
15	44567580	T	A	T44567580A	SPG11	NM_025137.4(SPG11):c.6598A>T:p.Lys2200Ter	coding	Pathogenic
15	44570521	T	C	T44570521C	SPG11	NM_025137.4(SPG11):c.6477+4A>G	noncoding	Pathogenic
15	44570584	G	A	G44570584A	SPG11	NM_025137.4(SPG11):c.6418C>T:p.Gln2140Ter	coding	Pathogenic
15	44572696	C	T	C44572696T	SPG11	NM_025137.4(SPG11):c.6330G>A:p.Gly2110=	coding	Benign
15	44572707	C	T	C44572707T	SPG11	NM_025137.4(SPG11):c.6319G>A:p.Val2107Ile	coding	Benign/Likely_benign
15	44572821	C	G	C44572821G	SPG11	NM_025137.4(SPG11):c.6206-1G>C	coding	Pathogenic
15	44573546	C	T	C44573546T	SPG11	NM_025137.4(SPG11):c.6205+1G>A	noncoding	Pathogenic
15	44573652	G	A	G44573652A	SPG11	NM_025137.4(SPG11):c.6100C>T:p.Arg2034Ter	coding	Pathogenic
15	44573661	G	A	G44573661A	SPG11	NM_025137.4(SPG11):c.6091C>T:p.Arg2031Ter	coding	Pathogenic
15	44574931	G	A	G44574931A	SPG11	NM_025137.4(SPG11):c.5977C>T:p.Gln1993Ter	coding	Pathogenic
15	44574934	G	A	G44574934A	SPG11	NM_025137.4(SPG11):c.5974C>T:p.Arg1992Ter	coding	Pathogenic
15	44574938	G	C	G44574938C	SPG11	NM_025137.4(SPG11):c.5970C>G:p.Tyr1990Ter	coding	Pathogenic
15	44575038	G	C	G44575038C	SPG11	NM_025137.4(SPG11):c.5870C>G:p.Ser1957Ter	coding	Pathogenic
15	44575042	C	A	C44575042A	SPG11	NM_025137.4(SPG11):c.5867-1G>T	coding	Pathogenic
15	44583813	C	T	C44583813T	SPG11	NM_025137.4(SPG11):c.5866+1G>A	noncoding	Pathogenic
15	44583865	C	A	C44583865A	SPG11	NM_025137.4(SPG11):c.5815G>T:p.Glu1939Ter	coding	Pathogenic
15	44584057	G	A	G44584057A	SPG11	NM_025137.4(SPG11):c.5623C>T:p.Gln1875Ter	coding	Pathogenic
15	44584072	A	G	A44584072G	SPG11	NM_025137.4(SPG11):c.5608T>C:p.Leu1870=	coding	Benign
15	44584210	G	A	G44584210A	SPG11	NM_025137.4(SPG11):c.5470C>T:p.Arg1824Ter	coding	Pathogenic
15	44584522	G	A	G44584522A	SPG11	NM_025137.4(SPG11):c.5158C>T:p.Gln1720Ter	coding	Pathogenic/Likely_pathogenic
15	44585664	A	T	A44585664T	SPG11	NM_025137.4(SPG11):c.5093T>A:p.Leu1698Ter	coding	Pathogenic
15	44585834	C	G	C44585834G	SPG11	NM_025137.4(SPG11):c.4923G>C:p.Lys1641Asn	coding	Benign/Likely_benign
15	44589270	C	A	C44589270A	SPG11	NM_025137.4(SPG11):c.4888G>T:p.Glu1630Ter	coding	Pathogenic
15	44589312	G	A	G44589312A	SPG11	NM_025137.4(SPG11):c.4846C>T:p.Gln1616Ter	coding	Pathogenic
15	44589348	A	G	A44589348G	SPG11	NM_025137.4(SPG11):c.4810T>C:p.Phe1604Leu	coding	Benign/Likely_benign
15	44589368	C	T	C44589368T	SPG11	NM_025137.4(SPG11):c.4790G>A:p.Trp1597Ter	coding	Pathogenic
15	44592387	T	C	T44592387C	SPG11	NM_025137.4(SPG11):c.4687A>G:p.Arg1563Gly	coding	Benign/Likely_benign
15	44592406	A	T	A44592406T	SPG11	NM_025137.4(SPG11):c.4668T>A:p.Tyr1556Ter	coding	Pathogenic
15	44595303	G	A	G44595303A	SPG11	NM_025137.4(SPG11):c.4591C>T:p.Gln1531Ter	coding	Pathogenic
15	44595382	T	A	T44595382A	SPG11	NM_025137.4(SPG11):c.4512A>T:p.Gly1504=	coding	Benign
15	44595461	T	C	T44595461C	SPG11	NM_025137.4(SPG11):c.4435-2A>G	noncoding	Pathogenic
15	44596082	C	T	C44596082T	SPG11	NM_025137.4(SPG11):c.4434+1G>A	noncoding	Pathogenic
15	44596121	G	A	G44596121A	SPG11	NM_025137.4(SPG11):c.4396C>T:p.Gln1466Ter	coding	Pathogenic
15	44596146	C	T	C44596146T	SPG11	NM_025137.4(SPG11):c.4371G>A:p.Trp1457Ter	coding	Pathogenic
15	44596152	C	T	C44596152T	SPG11	NM_025137.4(SPG11):c.4365G>A:p.Trp1455Ter	coding	Pathogenic
15	44596862	G	T	G44596862T	SPG11	NM_025137.4(SPG11):c.4083C>A:p.Tyr1361Ter	coding	Pathogenic
15	44596899	A	T	A44596899T	SPG11	NM_025137.4(SPG11):c.4046T>A:p.Phe1349Tyr	coding	Pathogenic
15	44600465	A	T	A44600465T	SPG11	NM_025137.4(SPG11):c.3686+2T>A	noncoding	Pathogenic
15	44608477	C	T	C44608477T	SPG11	NM_025137.4(SPG11):c.3420G>A:p.Leu1140=	coding	Benign
15	44610839	C	A	C44610839A	SPG11	NM_025137.4(SPG11):c.3291+1G>T	noncoding	Pathogenic
15	44611087	C	A	C44611087A	SPG11	NM_025137.4(SPG11):c.3146-102G>T	noncoding	Benign
15	44613454	G	A	G44613454A	SPG11	NM_025137.4(SPG11):c.3121C>T:p.Arg1041Ter	coding	Pathogenic
15	44615411	A	T	A44615411T	SPG11	NM_025137.4(SPG11):c.2990T>A:p.Leu997Ter	coding	Pathogenic
15	44615524	G	T	G44615524T	SPG11	NM_025137.4(SPG11):c.2877C>A:p.Cys959Ter	coding	Pathogenic
15	44615544	C	A	C44615544A	SPG11	NM_025137.4(SPG11):c.2857G>T:p.Glu953Ter	coding	Pathogenic
15	44620191	T	C	T44620191C	SPG11	NM_025137.4(SPG11):c.2833A>G:p.Arg945Gly	coding	Pathogenic
15	44620287	G	A	G44620287A	SPG11	NM_025137.4(SPG11):c.2737C>T:p.Gln913Ter	coding	Pathogenic
15	44620327	C	T	C44620327T	SPG11	NM_025137.4(SPG11):c.2697G>A:p.Trp899Ter	coding	Pathogenic
15	44621771	T	C	T44621771C	SPG11	NM_025137.4(SPG11):c.2608A>G:p.Ile870Val	coding	Pathogenic
15	44622219	C	G	C44622219G	SPG11	NM_025137.4(SPG11):c.2444+1G>C	noncoding	Pathogenic
15	44622219	C	T	C44622219T	SPG11	NM_025137.4(SPG11):c.2444+1G>A	noncoding	Pathogenic
15	44622220	C	A	C44622220A	SPG11	NM_025137.4(SPG11):c.2444G>T:p.Arg815Met	coding	Pathogenic
15	44622233	G	A	G44622233A	SPG11	NM_025137.4(SPG11):c.2431C>T:p.Gln811Ter	coding	Pathogenic
15	44622727	C	T	C44622727T	SPG11	NM_025137.4(SPG11):c.2316+1G>A	noncoding	Pathogenic
15	44626377	A	C	A44626377C	SPG11	NM_025137.4(SPG11):c.2198T>G:p.Leu733Ter	coding	Pathogenic
15	44626429	G	A	G44626429A	SPG11	NM_025137.4(SPG11):c.2146C>T:p.Gln716Ter	coding	Pathogenic/Likely_pathogenic
15	44626492	C	T	C44626492T	SPG11	NM_025137.4(SPG11):c.2083G>A:p.Ala695Thr	coding	Benign
15	44626509	T	A	T44626509A	SPG11	NM_025137.4(SPG11):c.2068-2A>T	noncoding	Pathogenic
15	44628688	C	T	C44628688T	SPG11	NM_025137.4(SPG11):c.2048G>A:p.Trp683Ter	coding	Pathogenic
15	44628785	G	A	G44628785A	SPG11	NM_025137.4(SPG11):c.1951C>T:p.Arg651Ter	coding	Pathogenic
15	44629232	C	A	C44629232A	SPG11	NM_025137.4(SPG11):c.1891+1G>T	noncoding	Pathogenic
15	44633561	G	C	G44633561C	SPG11	NM_025137.4(SPG11):c.1679C>G:p.Ser560Ter	coding	Pathogenic
15	44633619	G	A	G44633619A	SPG11	NM_025137.4(SPG11):c.1621C>T:p.Gln541Ter	coding	Pathogenic
15	44648976	G	A	G44648976A	SPG11	NM_025137.4(SPG11):c.1492C>T:p.Gln498Ter	coding	Pathogenic
15	44649013	T	C	T44649013C	SPG11	NM_025137.4(SPG11):c.1457-2A>G	noncoding	Pathogenic
15	44651515	G	A	G44651515A	SPG11	NM_025137.4(SPG11):c.1432C>T:p.Gln478Ter	coding	Pathogenic
15	44651559	A	G	A44651559G	SPG11	NM_025137.4(SPG11):c.1388T>C:p.Phe463Ser	coding	Benign
15	44651599	T	C	T44651599C	SPG11	NM_025137.4(SPG11):c.1348A>G:p.Ile450Val	coding	Benign
15	44651600	G	A	G44651600A	SPG11	NM_025137.4(SPG11):c.1347C>T:p.Thr449=	coding	Benign
15	44651665	T	A	T44651665A	SPG11	NM_025137.4(SPG11):c.1282A>T:p.Lys428Ter	coding	Pathogenic
15	44651712	G	C	G44651712C	SPG11	NM_025137.4(SPG11):c.1235C>G:p.Ser412Ter	coding	Pathogenic/Likely_pathogenic
15	44651760	T	C	T44651760C	SPG11	NM_025137.4(SPG11):c.1187A>G:p.Tyr396Cys	coding	Benign/Likely_benign
15	44651795	C	T	C44651795T	SPG11	NM_025137.4(SPG11):c.1152G>A:p.Trp384Ter	coding	Pathogenic
15	44651839	C	T	C44651839T	SPG11	NM_025137.4(SPG11):c.1108G>A:p.Glu370Lys	coding	Benign/Likely_benign
15	44651862	C	T	C44651862T	SPG11	NM_025137.4(SPG11):c.1085G>A:p.Trp362Ter	coding	Pathogenic
15	44652143	G	A	G44652143A	SPG11	NM_025137.4(SPG11):c.993C>T:p.Ser331=	coding	Benign
15	44652211	C	A	C44652211A	SPG11	NM_025137.4(SPG11):c.925G>T:p.Gly309Ter	coding	Pathogenic
15	44657094	C	A	C44657094A	SPG11	NM_025137.4(SPG11):c.869+1G>T	noncoding	Pathogenic
15	44657094	C	T	C44657094T	SPG11	NM_025137.4(SPG11):c.869+1G>A	noncoding	Pathogenic
15	44657131	T	C	T44657131C	SPG11	NM_025137.4(SPG11):c.833A>G:p.Asn278Ser	coding	Benign
15	44657156	C	T	C44657156T	SPG11	NM_025137.4(SPG11):c.808G>A:p.Val270Ile	coding	Benign/Likely_benign
15	44657168	G	A	G44657168A	SPG11	NM_025137.4(SPG11):c.796C>T:p.Gln266Ter	coding	Pathogenic
15	44657182	G	T	G44657182T	SPG11	NM_025137.4(SPG11):c.782C>A:p.Ser261Ter	coding	Pathogenic
15	44657232	G	A	G44657232A	SPG11	NM_025137.4(SPG11):c.732C>T:p.Asp244=	coding	Benign
15	44659154	G	A	G44659154A	SPG11	NM_025137.4(SPG11):c.592C>T:p.Gln198Ter	coding	Pathogenic
15	44660431	C	G	C44660431G	SPG11	NM_025137.4(SPG11):c.442+1G>C	noncoding	Pathogenic
15	44660525	C	A	C44660525A	SPG11	NM_025137.4(SPG11):c.349G>T:p.Glu117Ter	coding	Pathogenic
15	44660540	C	A	C44660540A	SPG11	NM_025137.4(SPG11):c.334G>T:p.Glu112Ter	coding	Pathogenic
15	44660606	C	A	C44660606A	SPG11	NM_025137.4(SPG11):c.268G>T:p.Glu90Ter	coding	Pathogenic
15	44660607	C	T	C44660607T	SPG11	NM_025137.4(SPG11):c.267G>A:p.Trp89Ter	coding	Pathogenic
15	44663393	C	T	C44663393T	SPG11	NM_025137.4(SPG11):c.255G>A:p.Trp85Ter	coding	Pathogenic
15	44663530	G	A	G44663530A	SPG11	NM_025137.4(SPG11):c.118C>T:p.Gln40Ter	coding	Pathogenic
15	44663584	T	C	T44663584C	SPG11	NM_025137.4(SPG11):c.64A>G:p.Met22Val	coding	Benign/Likely_benign
15	44666454	T	C	T44666454C	PATL2	NM_001145112.1(PATL2):c.1551A>G:p.Leu517=	coding	Benign
15	44668978	A	G	A44668978G	PATL2	NM_001145112.1(PATL2):c.1224+2T>C	noncoding	Pathogenic
15	44672114	A	T	A44672114T	PATL2	NM_001330283.1(PATL2):c.-10T>A	coding	Pathogenic
15	44711614	G	T	G44711614T	B2M	NM_004048.3(B2M):c.67+1G>T	coding	Pathogenic
15	44715641	G	A	G44715641A	B2M	NM_004048.3(B2M):c.286G>A:p.Asp96Asn	coding	Pathogenic
15	44754927	G	A	G44754927A	TRIM69	NM_182985.5(TRIM69):c.34G>A:p.Asp12Asn	coding	Benign
15	44767242	C	T	C44767242T	TRIM69	NM_182985.5(TRIM69):c.973C>T:p.Leu325=	coding	Benign
15	44767464	A	T	A44767464T	TRIM69	NM_182985.5(TRIM69):c.1195A>T:p.Ile399Phe	coding	Benign
15	45065349	C	T	C45065349T	SORD	NM_003104.6(SORD):c.504C>T:p.Gly168=	coding	Benign
15	45068982	A	T	A45068982T	SORD	NM_003104.6(SORD):c.716A>T:p.Gln239Leu	coding	Benign
15	45072425	C	T	C45072425T	SORD	NM_003104.6(SORD):c.895C>T:p.Arg299Ter	coding	Pathogenic
15	45073526	C	T	C45073526T	SORD	NM_003104.6(SORD):c.1070C>T:p.Pro357Leu	coding	Benign
15	45093298	A	T	A45093298T	DUOX2	NM_001363711.2(DUOX2):c.*852T>A	noncoding	Benign
15	45093428	C	T	C45093428T	DUOX2	NM_001363711.2(DUOX2):c.*722G>A	noncoding	Benign
15	45093672	C	T	C45093672T	DUOX2	NM_001363711.2(DUOX2):c.*478G>A	noncoding	Benign
15	45093697	A	G	A45093697G	DUOX2	NM_001363711.2(DUOX2):c.*453T>C	noncoding	Benign
15	45093718	C	T	C45093718T	DUOX2	NM_001363711.2(DUOX2):c.*432G>A	noncoding	Benign
15	45094113	G	A	G45094113A	DUOX2	NM_001363711.2(DUOX2):c.*37C>T	noncoding	Benign
15	45094608	G	C	G45094608C	DUOX2	NM_001363711.2(DUOX2):c.4479C>G:p.Pro1493=	coding	Benign
15	45095942	G	A	G45095942A	DUOX2	NM_001363711.2(DUOX2):c.3966C>T:p.Ser1322=	coding	Benign/Likely_benign
15	45096052	A	G	A45096052G	DUOX2	NM_001363711.2(DUOX2):c.3856T>C:p.Tyr1286His	coding	Benign
15	45098059	C	G	C45098059G	DUOX2	NM_014080.4(DUOX2):c.3516-1G>C	coding	Pathogenic
15	45099368	A	T	A45099368T	DUOX2	NM_001363711.2(DUOX2):c.3515+15T>A	noncoding	Benign
15	45099748	C	T	C45099748T	DUOX2	NM_014080.4(DUOX2):c.3329G>A:p.Arg1110Gln	coding	Pathogenic
15	45099816	C	T	C45099816T	DUOX2	NM_001363711.2(DUOX2):c.3261G>A:p.Ala1087=	coding	Benign/Likely_benign
15	45099877	G	A	G45099877A	DUOX2	NM_001363711.2(DUOX2):c.3200C>T:p.Ser1067Leu	coding	Benign
15	45100179	T	C	T45100179C	DUOX2	NM_001363711.2(DUOX2):c.3055A>G:p.Met1019Val	coding	Benign
15	45100184	T	C	T45100184C	DUOX2	NM_001363711.2(DUOX2):c.3050A>G:p.Glu1017Gly	coding	Benign
15	45100192	C	T	C45100192T	DUOX2	NM_001363711.2(DUOX2):c.3042G>A:p.Ala1014=	coding	Benign/Likely_benign
15	45100816	G	C	G45100816C	DUOX2	NM_001363711.2(DUOX2):c.2944C>G:p.Pro982Ala	coding	Benign/Likely_benign
15	45101979	C	A	C45101979A	DUOX2	NM_001363711.2(DUOX2):c.2665G>T:p.Glu889Ter	coding	Pathogenic
15	45104176	G	A	G45104176A	DUOX2	NM_001363711.2(DUOX2):c.2524C>T:p.Arg842Ter	coding	Pathogenic
15	45105633	G	A	G45105633A	DUOX2	NM_001363711.2(DUOX2):c.2334+10C>T	noncoding	Benign
15	45105691	C	T	C45105691T	DUOX2	NM_001363711.2(DUOX2):c.2286G>A:p.Gln762=	coding	Benign/Likely_benign
15	45105795	C	T	C45105795T	DUOX2	NM_001363711.2(DUOX2):c.2182G>A:p.Ala728Thr	coding	Benign/Likely_benign
15	45106116	G	A	G45106116A	DUOX2	NM_001363711.2(DUOX2):c.2148+9C>T	noncoding	Benign/Likely_benign
15	45106171	C	T	C45106171T	DUOX2	NM_001363711.2(DUOX2):c.2102G>A:p.Arg701Gln	coding	Benign/Likely_benign
15	45106217	G	A	G45106217A	DUOX2	NM_001363711.2(DUOX2):c.2056C>T:p.Gln686Ter	coding	Pathogenic
15	45106240	T	C	T45106240C	DUOX2	NM_001363711.2(DUOX2):c.2033A>G:p.His678Arg	coding	Benign
15	45106311	G	A	G45106311A	DUOX2	NM_001363711.2(DUOX2):c.1962C>T:p.Gly654=	coding	Benign
15	45107335	C	T	C45107335T	DUOX2	NM_001363711.2(DUOX2):c.1693+10G>A	noncoding	Benign/Likely_benign
15	45107417	G	T	G45107417T	DUOX2	NM_001363711.2(DUOX2):c.1621C>A:p.Arg541=	coding	Benign
15	45107450	T	A	T45107450A	DUOX2	NM_001363711.2(DUOX2):c.1588A>T:p.Lys530Ter	coding	Pathogenic
15	45108106	G	A	G45108106A	DUOX2	NM_001363711.2(DUOX2):c.1515C>T:p.Leu505=	coding	Benign
15	45108159	C	T	C45108159T	DUOX2	NM_001363711.2(DUOX2):c.1462G>A:p.Gly488Arg	coding	Pathogenic/Likely_pathogenic
15	45108160	C	G	C45108160G	DUOX2	NM_001363711.2(DUOX2):c.1461G>C:p.Gly487=	coding	Benign
15	45108885	T	C	T45108885C	DUOX2	NM_001363711.2(DUOX2):c.1302A>G:p.Arg434=	coding	Benign/Likely_benign
15	45108887	G	A	G45108887A	DUOX2	NM_001363711.2(DUOX2):c.1300C>T:p.Arg434Ter	coding	Pathogenic
15	45108948	G	A	G45108948A	DUOX2	NM_001363711.2(DUOX2):c.1239C>T:p.Tyr413=	coding	Benign
15	45109895	G	A	G45109895A	DUOX2	NM_001363711.2(DUOX2):c.1126C>T:p.Arg376Trp	coding	Pathogenic
15	45109926	T	C	T45109926C	DUOX2	NM_001363711.2(DUOX2):c.1095A>G:p.Gln365=	coding	Benign
15	45111767	C	G	C45111767G	DUOX2	NM_001363711.2(DUOX2):c.513+1G>C	noncoding	Pathogenic
15	45111769	A	G	A45111769G	DUOX2	NM_001363711.2(DUOX2):c.512T>C:p.Leu171Pro	coding	Benign
15	45111868	G	A	G45111868A	DUOX2	NM_001363711.2(DUOX2):c.413C>T:p.Pro138Leu	coding	Benign
15	45112576	G	T	G45112576T	DUOX2	NM_001363711.2(DUOX2):c.303C>A:p.Arg101=	coding	Benign/Likely_benign
15	45114656	C	T	C45114656T	DUOXA2	NM_207581.4(DUOXA2):c.51C>T:p.Ala17=	coding	Benign
15	45114723	C	T	C45114723T	DUOXA2	NM_207581.4(DUOXA2):c.118C>T:p.Leu40Phe	coding	Benign
15	45116216	C	G	C45116216G	DUOXA2	NM_207581.4(DUOXA2):c.298C>G:p.Arg100Gly	coding	Benign
15	45116221	G	A	G45116221A	DUOXA2	NM_207581.4(DUOXA2):c.303G>A:p.Leu101=	coding	Benign
15	45116501	C	T	C45116501T	DUOXA2	NM_207581.4(DUOXA2):c.341-15C>T	noncoding	Benign
15	45116512	A	G	A45116512G	DUOXA2	NM_207581.4(DUOXA2):c.341-4A>G	noncoding	Benign
15	45116589	C	G	C45116589G	DUOXA2	NM_207581.4(DUOXA2):c.414C>G:p.Tyr138Ter	coding	Pathogenic
15	45116676	C	A	C45116676A	DUOXA2	NM_207581.4(DUOXA2):c.501C>A:p.Cys167Ter	coding	Pathogenic
15	45116694	C	T	C45116694T	DUOXA2	NM_207581.4(DUOXA2):c.519C>T:p.Tyr173=	coding	Benign
15	45116735	T	C	T45116735C	DUOXA2	NM_207581.4(DUOXA2):c.554+6T>C	noncoding	Benign
15	45117073	C	T	C45117073T	DUOXA2	NM_207581.4(DUOXA2):c.555-18C>T	noncoding	Benign
15	45117140	G	A	G45117140A	DUOXA2	NM_207581.4(DUOXA2):c.604G>A:p.Ala202Thr	coding	Pathogenic
15	45117175	C	A	C45117175A	DUOXA2	NM_207581.4(DUOXA2):c.639C>A:p.Thr213=	coding	Benign
15	45117274	C	G	C45117274G	DUOXA2	NM_207581.4(DUOXA2):c.738C>G:p.Tyr246Ter	coding	Pathogenic
15	45120748	C	A	C45120748A	DUOXA1	NM_001276267.2(DUOXA1):c.263G>T:p.Arg88Leu	coding	Benign
15	45139086	T	C	T45139086C	DUOX1	NM_175940.3(DUOX1):c.1134T>C:p.Ala378=	coding	Benign
15	45139607	G	A	G45139607A	DUOX1	NM_175940.3(DUOX1):c.1389+8G>A	noncoding	Benign
15	45142087	C	T	C45142087T	DUOX1	NM_175940.3(DUOX1):c.1797C>T:p.Ile599=	coding	Benign
15	45142111	G	A	G45142111A	DUOX1	NM_175940.3(DUOX1):c.1821G>A:p.Leu607=	coding	Benign
15	45147493	C	T	C45147493T	DUOX1	NM_175940.3(DUOX1):c.2383C>T:p.Arg795Trp	coding	Benign
15	45152374	T	C	T45152374C	DUOX1	NM_175940.3(DUOX1):c.3282T>C:p.Ser1094=	coding	Benign
15	45153993	C	T	C45153993T	DUOX1	NM_175940.3(DUOX1):c.3567C>T:p.Thr1189=	coding	Benign
15	45162371	T	C	T45162371C	DUOX1	NM_175940.3(DUOX1):c.4242T>C:p.Cys1414=	coding	Benign
15	45361169	G	A	G45361169A	GATM	NM_001482.3(GATM):c.*940C>T	noncoding	Benign
15	45361196	C	T	C45361196T	GATM	NM_001482.3(GATM):c.*913G>A	noncoding	Benign
15	45361262	C	T	C45361262T	GATM	NM_001482.3(GATM):c.*847G>A	noncoding	Benign
15	45361394	A	G	A45361394G	GATM	NM_001482.3(GATM):c.*715T>C	noncoding	Benign
15	45361509	T	C	T45361509C	GATM	NM_001482.3(GATM):c.*600A>G	noncoding	Benign
15	45361514	G	T	G45361514T	GATM	NM_001482.3(GATM):c.*595C>A	noncoding	Benign
15	45361984	C	T	C45361984T	GATM	NM_001482.3(GATM):c.*125G>A	noncoding	Benign
15	45362129	A	G	A45362129G	GATM	NM_001482.3(GATM):c.1252T>C:p.Leu418=	coding	Benign
15	45362142	C	T	C45362142T	GATM	NM_001482.3(GATM):c.1239G>A:p.Arg413=	coding	Benign/Likely_benign
15	45363705	T	C	T45363705C	GATM	NM_001482.3(GATM):c.1159+195A>G	noncoding	Benign
15	45364270	T	C	T45364270C	GATM	NM_001482.3(GATM):c.1043-254A>G	noncoding	Benign
15	45364817	G	A	G45364817A	GATM	NM_001482.3(GATM):c.1022C>T:p.Pro341Leu	coding	Pathogenic
15	45364832	G	A	G45364832A	GATM	NM_001482.3(GATM):c.1007C>T:p.Thr336Ile	coding	Pathogenic
15	45364833	T	C	T45364833C	GATM	NM_001482.3(GATM):c.1006A>G:p.Thr336Ala	coding	Pathogenic
15	45366066	G	A	G45366066A	GATM	NM_001482.3(GATM):c.958C>T:p.Pro320Ser	coding	Pathogenic
15	45366406	G	A	G45366406A	GATM	NM_001482.3(GATM):c.778C>T:p.Arg260Ter	coding	Pathogenic
15	45368137	T	G	T45368137G	GATM	NM_001482.3(GATM):c.608A>C:p.Tyr203Ser	coding	Pathogenic
15	45368240	G	A	G45368240A	GATM	NM_001482.3(GATM):c.505C>T:p.Arg169Ter	coding	Pathogenic
15	45368560	C	G	C45368560G	GATM	NM_001482.3(GATM):c.485-300G>C	noncoding	Benign
15	45369325	C	A	C45369325A	GATM	NM_001482.3(GATM):c.484+1G>T	noncoding	Pathogenic
15	45369364	C	T	C45369364T	GATM	NM_001482.3(GATM):c.446G>A:p.Trp149Ter	coding	Pathogenic
15	45369480	T	A	T45369480A	GATM	NM_001482.3(GATM):c.330A>T:p.Gln110His	coding	Benign
15	45376349	A	C	A45376349C	GATM	NM_001482.3(GATM):c.288+252T>G	noncoding	Benign
15	45376367	T	C	T45376367C	GATM	NM_001482.3(GATM):c.288+234A>G	noncoding	Benign
15	45376607	C	T	C45376607T	GATM	NM_001482.3(GATM):c.282G>A:p.Glu94=	coding	Benign/Likely_benign
15	45376673	C	T	C45376673T	GATM	NM_001482.3(GATM):c.216G>A:p.Trp72Ter	coding	Pathogenic
15	45377036	T	G	T45377036G	GATM	NM_001482.3(GATM):c.70-217A>C	noncoding	Benign
15	45378118	G	A	G45378118A	GATM	NM_001482.3(GATM):c.69+267C>T	noncoding	Benign
15	45378137	G	A	G45378137A	GATM	NM_001482.3(GATM):c.69+248C>T	noncoding	Benign
15	45378406	C	A	C45378406A	GATM	NM_001482.3(GATM):c.48G>T:p.Ala16=	coding	Benign/Likely_benign
15	45378483	A	C	A45378483C	GATM	NM_001482.3(GATM):c.-30T>G	noncoding	Benign
15	45378653	G	A	G45378653A	GATM	NM_001321015.2(GATM):c.-319+1831C>T	noncoding	Benign
15	45379127	A	G	A45379127G	GATM	NM_001321015.2(GATM):c.-319+1357T>C	noncoding	Benign
15	45402956	G	T	G45402956T	SPATA5L1	NM_024063.3(SPATA5L1):c.527G>T:p.Gly176Val	coding	Pathogenic
15	45405318	A	G	A45405318G	SPATA5L1	NM_024063.3(SPATA5L1):c.1090-2A>G	noncoding	Pathogenic
15	45405429	C	T	C45405429T	SPATA5L1	NM_024063.3(SPATA5L1):c.1199C>T:p.Thr400Ile	coding	Pathogenic
15	45587477	G	A	G45587477A	BLOC1S6	NM_012388.3(BLOC1S6):c.34G>A:p.Ala12Thr	coding	Benign/Likely_benign
15	45587535	A	G	A45587535G	BLOC1S6	NM_012388.3(BLOC1S6):c.82+10A>G	noncoding	Benign/Likely_benign
15	45603107	C	T	C45603107T	BLOC1S6	NM_012388.3(BLOC1S6):c.232C>T:p.Gln78Ter	coding	Pathogenic
15	48134287	A	G	A48134287G	SLC24A5	NM_205850.3(SLC24A5):c.331A>G:p.Thr111Ala	coding	Benign
15	48134897	C	G	C48134897G	SLC24A5	NM_205850.3(SLC24A5):c.503C>G:p.Ser168Ter	coding	Pathogenic
15	48134915	G	A	G48134915A	SLC24A5	NM_205850.3(SLC24A5):c.521G>A:p.Arg174Lys	coding	Pathogenic
15	48134922	T	A	T48134922A	SLC24A5	NM_205850.3(SLC24A5):c.528T>A:p.Cys176Ter	coding	Pathogenic
15	48136683	G	A	G48136683A	SLC24A5	NM_205850.3(SLC24A5):c.591G>A:p.Trp197Ter	coding	Pathogenic
15	48139086	G	A	G48139086A	SLC24A5	NM_205850.3(SLC24A5):c.989G>A:p.Trp330Ter	coding	Pathogenic
15	48141109	A	T	A48141109T	SLC24A5	NM_205850.3(SLC24A5):c.1079-4A>T	coding	Benign
15	48207584	A	G	A48207584G	SLC12A1	NM_000338.3(SLC12A1):c.-136A>G	noncoding	Benign
15	48207790	G	A	G48207790A	SLC12A1	NM_000338.3(SLC12A1):c.71G>A:p.Ser24Asn	coding	Benign/Likely_benign
15	48207908	G	A	G48207908A	SLC12A1	NM_000338.3(SLC12A1):c.189G>A:p.Arg63=	coding	Benign/Likely_benign
15	48208134	G	A	G48208134A	SLC12A1	NM_000338.3(SLC12A1):c.415G>A:p.Ala139Thr	coding	Benign
15	48226542	C	T	C48226542T	SLC12A1	NM_000338.3(SLC12A1):c.695C>T:p.Ala232Val	coding	Benign/Likely_benign
15	48226555	C	T	C48226555T	SLC12A1	NM_000338.3(SLC12A1):c.708C>T:p.Asn236=	coding	Benign/Likely_benign
15	48226575	A	G	A48226575G	SLC12A1	NM_000338.3(SLC12A1):c.724+4A>G	noncoding	Pathogenic
15	48229278	G	T	G48229278T	SLC12A1	NM_000338.3(SLC12A1):c.814G>T:p.Val272Phe	coding	Pathogenic
15	48229292	G	A	G48229292A	SLC12A1	NM_000338.3(SLC12A1):c.828G>A:p.Val276=	coding	Benign
15	48246932	C	T	C48246932T	SLC12A1	NM_000338.3(SLC12A1):c.1476C>T:p.Phe492=	coding	Benign
15	48247390	T	C	T48247390C	SLC12A1	NM_000338.3(SLC12A1):c.1614T>C:p.Tyr538=	coding	Benign
15	48251703	G	A	G48251703A	SLC12A1	NM_000338.3(SLC12A1):c.1875G>A:p.Trp625Ter	coding	Pathogenic
15	48251711	C	A	C48251711A	SLC12A1	NM_000338.3(SLC12A1):c.1883C>A:p.Ala628Asp	coding	Pathogenic
15	48251745	C	G	C48251745G	SLC12A1	NM_000338.3(SLC12A1):c.1917C>G:p.Tyr639Ter	coding	Pathogenic
15	48251770	G	A	G48251770A	SLC12A1	NM_000338.3(SLC12A1):c.1942G>A:p.Asp648Asn	coding	Pathogenic
15	48259224	G	A	G48259224A	SLC12A1	NM_000338.3(SLC12A1):c.2067G>A:p.Gly689=	coding	Benign/Likely_benign
15	48267566	G	A	G48267566A	SLC12A1	NM_000338.3(SLC12A1):c.2160G>A:p.Pro720=	coding	Benign/Likely_benign
15	48267604	C	T	C48267604T	SLC12A1	NM_000338.3(SLC12A1):c.2198C>T:p.Ala733Val	coding	Benign
15	48267605	G	A	G48267605A	SLC12A1	NM_000338.3(SLC12A1):c.2199G>A:p.Ala733=	coding	Benign/Likely_benign
15	48267616	C	T	C48267616T	SLC12A1	NM_000338.3(SLC12A1):c.2210C>T:p.Ala737Val	coding	Benign
15	48269652	G	T	G48269652T	SLC12A1	NM_000338.3(SLC12A1):c.2296-6G>T	noncoding	Benign
15	48288036	G	A	G48288036A	SLC12A1	NM_000338.3(SLC12A1):c.2630-7G>A	noncoding	Benign
15	48288430	C	T	C48288430T	SLC12A1	NM_000338.3(SLC12A1):c.2787C>T:p.Ile929=	coding	Benign/Likely_benign
15	48288516	T	C	T48288516C	SLC12A1	NM_000338.3(SLC12A1):c.2873T>C:p.Val958Ala	coding	Benign/Likely_benign
15	48288517	G	A	G48288517A	SLC12A1	NM_000338.3(SLC12A1):c.2873+1G>A	coding	Pathogenic
15	48302986	C	A	C48302986A	SLC12A1	NM_000338.3(SLC12A1):c.*101C>A	noncoding	Benign
15	48302995	G	T	G48302995T	SLC12A1	NM_000338.3(SLC12A1):c.*110G>T	noncoding	Benign
15	48303011	T	C	T48303011C	SLC12A1	NM_000338.3(SLC12A1):c.*126T>C	noncoding	Benign
15	48303043	C	T	C48303043T	SLC12A1	NM_000338.3(SLC12A1):c.*158C>T	noncoding	Benign
15	48303169	A	G	A48303169G	SLC12A1	NM_000338.3(SLC12A1):c.*284A>G	noncoding	Benign
15	48303185	T	C	T48303185C	SLC12A1	NM_000338.3(SLC12A1):c.*300T>C	noncoding	Benign
15	48303969	A	T	A48303969T	SLC12A1	NM_000338.3(SLC12A1):c.*1084A>T	noncoding	Benign
15	48408316	A	T	A48408316T	FBN1	NM_000138.4(FBN1):c.*2674T>A	noncoding	Benign/Likely_benign
15	48408466	T	C	T48408466C	FBN1	NM_000138.4(FBN1):c.*2524A>G	noncoding	Benign/Likely_benign
15	48408832	C	T	C48408832T	FBN1	NM_000138.4(FBN1):c.*2158G>A	noncoding	Benign
15	48408837	T	C	T48408837C	FBN1	NM_000138.4(FBN1):c.*2153A>G	noncoding	Benign/Likely_benign
15	48408950	A	G	A48408950G	FBN1	NM_000138.4(FBN1):c.*2040T>C	noncoding	Benign
15	48409001	G	A	G48409001A	FBN1	NM_000138.4(FBN1):c.*1989C>T	noncoding	Benign/Likely_benign
15	48409031	C	T	C48409031T	FBN1	NM_000138.4(FBN1):c.*1959G>A	noncoding	Benign
15	48409415	A	C	A48409415C	FBN1	NM_000138.4(FBN1):c.*1575T>G	noncoding	Benign
15	48409428	C	A	C48409428A	FBN1	NM_000138.4(FBN1):c.*1562G>T	noncoding	Benign
15	48409622	T	C	T48409622C	FBN1	NM_000138.4(FBN1):c.*1368A>G	noncoding	Benign
15	48409762	A	G	A48409762G	FBN1	NM_000138.4(FBN1):c.*1228T>C	noncoding	Benign/Likely_benign
15	48409906	A	G	A48409906G	FBN1	NM_000138.4(FBN1):c.*1084T>C	noncoding	Benign
15	48410123	C	A	C48410123A	FBN1	NM_000138.4(FBN1):c.*867G>T	noncoding	Benign/Likely_benign
15	48410260	C	A	C48410260A	FBN1	NM_000138.4(FBN1):c.*730G>T	noncoding	Benign
15	48410676	G	A	G48410676A	FBN1	NM_000138.4(FBN1):c.*314C>T	noncoding	Benign
15	48410933	T	C	T48410933C	FBN1	NM_000138.4(FBN1):c.*57A>G	noncoding	Benign
15	48411070	C	A	C48411070A	FBN1	NM_000138.4(FBN1):c.8536G>T:p.Glu2846Ter	coding	Pathogenic
15	48411085	C	A	C48411085A	FBN1	NM_000138.4(FBN1):c.8521G>T:p.Glu2841Ter	coding	Pathogenic/Likely_pathogenic
15	48411094	T	A	T48411094A	FBN1	NM_000138.4(FBN1):c.8512A>T:p.Lys2838Ter	coding	Pathogenic
15	48411118	G	A	G48411118A	FBN1	NM_000138.4(FBN1):c.8488C>T:p.Gln2830Ter	coding	Pathogenic
15	48411161	G	A	G48411161A	FBN1	NM_000138.4(FBN1):c.8445C>T:p.Leu2815=	coding	Benign/Likely_benign
15	48411221	G	A	G48411221A	FBN1	NM_000138.5(FBN1):c.8385C>T:p.Ile2795=	coding	Benign/Likely_benign
15	48411280	G	A	G48411280A	FBN1	NM_000138.4(FBN1):c.8326C>T:p.Arg2776Ter	coding	Pathogenic
15	48411323	T	A	T48411323A	FBN1	NM_000138.5(FBN1):c.8283A>T:p.Thr2761=	coding	Benign/Likely_benign
15	48411338	C	T	C48411338T	FBN1	NM_000138.4(FBN1):c.8268G>A:p.Trp2756Ter	coding	Pathogenic
15	48411339	C	T	C48411339T	FBN1	NM_000138.5(FBN1):c.8267G>A:p.Trp2756Ter	coding	Pathogenic
15	48411374	C	T	C48411374T	FBN1	NM_000138.4(FBN1):c.8232G>A:p.Gln2744=	coding	Benign/Likely_benign
15	48411626	A	G	A48411626G	FBN1	NM_000138.4(FBN1):c.8227-247T>C	noncoding	Benign
15	48412564	C	T	C48412564T	FBN1	NM_000138.4(FBN1):c.8226+5G>A	noncoding	Pathogenic
15	48412568	C	A	C48412568A	FBN1	NM_000138.4(FBN1):c.8226+1G>T	noncoding	Pathogenic
15	48412568	C	T	C48412568T	FBN1	NM_000138.5(FBN1):c.8226+1G>A	noncoding	Pathogenic
15	48412622	T	A	T48412622A	FBN1	NM_000138.4(FBN1):c.8173A>T:p.Lys2725Ter	coding	Pathogenic
15	48412646	C	A	C48412646A	FBN1	NM_000138.4(FBN1):c.8149G>T:p.Glu2717Ter	coding	Pathogenic
15	48412650	A	T	A48412650T	FBN1	NM_000138.4(FBN1):c.8145T>A:p.Cys2715Ter	coding	Pathogenic
15	48412703	C	A	C48412703A	FBN1	NM_000138.4(FBN1):c.8092G>T:p.Glu2698Ter	coding	Pathogenic
15	48412715	G	A	G48412715A	FBN1	NM_000138.5(FBN1):c.8080C>T:p.Arg2694Ter	coding	Pathogenic
15	48412739	A	G	A48412739G	FBN1	NM_000138.4(FBN1):c.8056T>C:p.Cys2686Arg	coding	Pathogenic
15	48413009	T	C	T48413009C	FBN1	NM_000138.4(FBN1):c.8052-266A>G	noncoding	Benign
15	48415549	G	A	G48415549A	FBN1	NM_000138.4(FBN1):c.8038C>T:p.Arg2680Cys	coding	Pathogenic/Likely_pathogenic
15	48415573	A	G	A48415573G	FBN1	NM_000138.5(FBN1):c.8014T>C:p.Cys2672Arg	coding	Pathogenic
15	48415577	G	C	G48415577C	FBN1	NM_000138.4(FBN1):c.8010C>G:p.Tyr2670Ter	coding	Pathogenic
15	48415588	C	A	C48415588A	FBN1	NM_000138.4(FBN1):c.7999G>T:p.Glu2667Ter	coding	Pathogenic
15	48415599	C	G	C48415599G	FBN1	NM_000138.5(FBN1):c.7988G>C:p.Cys2663Ser	coding	Pathogenic
15	48415599	C	T	C48415599T	FBN1	NM_000138.4(FBN1):c.7988G>A:p.Cys2663Tyr	coding	Pathogenic
15	48415600	A	G	A48415600G	FBN1	NM_000138.4(FBN1):c.7987T>C:p.Cys2663Arg	coding	Pathogenic
15	48415610	G	T	G48415610T	FBN1	NM_000138.4(FBN1):c.7977C>A:p.Cys2659Ter	coding	Pathogenic
15	48415631	A	T	A48415631T	FBN1	NM_000138.4(FBN1):c.7956T>A:p.Cys2652Ter	coding	Pathogenic
15	48415633	A	G	A48415633G	FBN1	NM_000138.4(FBN1):c.7954T>C:p.Cys2652Arg	coding	Pathogenic
15	48415636	C	A	C48415636A	FBN1	NM_000138.4(FBN1):c.7951G>T:p.Glu2651Ter	coding	Pathogenic
15	48415637	A	G	A48415637G	FBN1	NM_000138.5(FBN1):c.7950T>C:p.Asn2650=	coding	Benign/Likely_benign
15	48415648	G	A	G48415648A	FBN1	NM_000138.4(FBN1):c.7939C>T:p.Gln2647Ter	coding	Pathogenic
15	48415650	C	T	C48415650T	FBN1	NM_000138.4(FBN1):c.7937G>A:p.Cys2646Tyr	coding	Pathogenic
15	48415651	A	T	A48415651T	FBN1	NM_000138.4(FBN1):c.7936T>A:p.Cys2646Ser	coding	Pathogenic
15	48415666	G	A	G48415666A	FBN1	NM_000138.4(FBN1):c.7921C>T:p.Gln2641Ter	coding	Pathogenic
15	48415671	T	C	T48415671C	FBN1	NM_000138.4(FBN1):c.7916A>G:p.Tyr2639Cys	coding	Pathogenic/Likely_pathogenic
15	48415722	C	G	C48415722G	FBN1	NM_000138.5(FBN1):c.7865G>C:p.Cys2622Ser	coding	Pathogenic
15	48415735	C	A	C48415735A	FBN1	NM_000138.4(FBN1):c.7852G>T:p.Gly2618Ter	coding	Pathogenic
15	48415736	G	T	G48415736T	FBN1	NM_000138.5(FBN1):c.7851C>A:p.Cys2617Ter	coding	Pathogenic
15	48415755	C	T	C48415755T	FBN1	NM_000138.4(FBN1):c.7832G>A:p.Cys2611Tyr	coding	Pathogenic/Likely_pathogenic
15	48415759	C	T	C48415759T	FBN1	NM_000138.4(FBN1):c.7828G>A:p.Glu2610Lys	coding	Pathogenic/Likely_pathogenic
15	48415765	C	A	C48415765A	FBN1	NM_000138.4(FBN1):c.7822G>T:p.Glu2608Ter	coding	Pathogenic
15	48415768	C	G	C48415768G	FBN1	NM_000138.5(FBN1):c.7820-1G>C	coding	Pathogenic
15	48420679	T	G	T48420679G	FBN1	NM_000138.5(FBN1):c.7819+8A>C	noncoding	Benign
15	48420686	C	T	C48420686T	FBN1	NM_000138.4(FBN1):c.7819+1G>A	noncoding	Pathogenic
15	48420696	G	A	G48420696A	FBN1	NM_000138.5(FBN1):c.7810C>T:p.Gln2604Ter	coding	Pathogenic
15	48420700	C	T	C48420700T	FBN1	NM_000138.4(FBN1):c.7806G>A:p.Trp2602Ter	coding	Pathogenic/Likely_pathogenic
15	48420705	G	A	G48420705A	FBN1	NM_000138.4(FBN1):c.7801C>T:p.Gln2601Ter	coding	Pathogenic
15	48420714	G	A	G48420714A	FBN1	NM_000138.4(FBN1):c.7792C>T:p.Gln2598Ter	coding	Pathogenic
15	48420726	G	A	G48420726A	FBN1	NM_000138.4(FBN1):c.7780C>T:p.Gln2594Ter	coding	Pathogenic
15	48420731	C	T	C48420731T	FBN1	NM_000138.4(FBN1):c.7775G>A:p.Cys2592Tyr	coding	Pathogenic
15	48420737	C	T	C48420737T	FBN1	NM_000138.4(FBN1):c.7769G>A:p.Cys2590Tyr	coding	Pathogenic/Likely_pathogenic
15	48420752	A	G	A48420752G	FBN1	NM_000138.5(FBN1):c.7754T>C:p.Ile2585Thr	coding	Pathogenic/Likely_pathogenic
15	48420795	A	G	A48420795G	FBN1	NM_000138.5(FBN1):c.7711T>C:p.Cys2571Arg	coding	Pathogenic
15	48420798	C	T	C48420798T	FBN1	NM_000138.4(FBN1):c.7708G>A:p.Glu2570Lys	coding	Pathogenic/Likely_pathogenic
15	48421540	G	A	G48421540A	FBN1	NM_000138.5(FBN1):c.7699+18C>T	noncoding	Benign
15	48421563	C	T	C48421563T	FBN1	NM_000138.4(FBN1):c.7694G>A:p.Cys2565Tyr	coding	Pathogenic
15	48421593	C	A	C48421593A	FBN1	NM_000138.4(FBN1):c.7664G>T:p.Gly2555Val	coding	Pathogenic
15	48421594	C	T	C48421594T	FBN1	NM_000138.4(FBN1):c.7663G>A:p.Gly2555Arg	coding	Pathogenic/Likely_pathogenic
15	48421601	G	T	G48421601T	FBN1	NM_000138.4(FBN1):c.7656C>A:p.Cys2552Ter	coding	Pathogenic
15	48421608	C	T	C48421608T	FBN1	NM_000138.4(FBN1):c.7649G>A:p.Cys2550Tyr	coding	Pathogenic
15	48421633	G	A	G48421633A	FBN1	NM_000138.4(FBN1):c.7624C>T:p.Gln2542Ter	coding	Pathogenic
15	48421651	C	T	C48421651T	FBN1	NM_000138.5(FBN1):c.7606G>A:p.Gly2536Arg	coding	Pathogenic
15	48421652	G	C	G48421652C	FBN1	NM_000138.4(FBN1):c.7605C>G:p.Cys2535Trp	coding	Pathogenic
15	48421652	G	T	G48421652T	FBN1	NM_000138.4(FBN1):c.7605C>A:p.Cys2535Ter	coding	Pathogenic
15	48421675	A	G	A48421675G	FBN1	NM_000138.4(FBN1):c.7582T>C:p.Cys2528Arg	coding	Pathogenic
15	48421762	A	T	A48421762T	FBN1	NM_000138.4(FBN1):c.7571-76T>A	noncoding	Benign
15	48421799	G	T	G48421799T	FBN1	NM_000138.4(FBN1):c.7571-113C>A	noncoding	Benign
15	48421947	C	T	C48421947T	FBN1	NM_000138.4(FBN1):c.7570+5G>A	noncoding	Pathogenic
15	48421973	G	A	G48421973A	FBN1	NM_000138.4(FBN1):c.7549C>T:p.Gln2517Ter	coding	Pathogenic
15	48421991	A	G	A48421991G	FBN1	NM_000138.4(FBN1):c.7531T>C:p.Cys2511Arg	coding	Pathogenic/Likely_pathogenic
15	48422024	A	G	A48422024G	FBN1	NM_000138.4(FBN1):c.7498T>C:p.Cys2500Arg	coding	Pathogenic
15	48422025	T	C	T48422025C	FBN1	NM_000138.5(FBN1):c.7497A>G:p.Leu2499=	coding	Benign/Likely_benign
15	48422045	G	A	G48422045A	FBN1	NM_000138.5(FBN1):c.7477C>T:p.Gln2493Ter	coding	Pathogenic
15	48422056	C	T	C48422056T	FBN1	NM_000138.4(FBN1):c.7466G>A:p.Cys2489Tyr	coding	Pathogenic
15	48422057	A	G	A48422057G	FBN1	NM_000138.4(FBN1):c.7465T>C:p.Cys2489Arg	coding	Pathogenic
15	48422070	T	C	T48422070C	FBN1	NM_000138.5(FBN1):c.7454-2A>G	noncoding	Pathogenic
15	48425374	C	G	C48425374G	FBN1	NM_000138.4(FBN1):c.7448G>C:p.Cys2483Ser	coding	Pathogenic
15	48425390	C	A	C48425390A	FBN1	NM_000138.4(FBN1):c.7432G>T:p.Glu2478Ter	coding	Pathogenic
15	48425412	G	C	G48425412C	FBN1	NM_000138.4(FBN1):c.7410C>G:p.Cys2470Trp	coding	Pathogenic/Likely_pathogenic
15	48425413	C	T	C48425413T	FBN1	NM_000138.4(FBN1):c.7409G>A:p.Cys2470Tyr	coding	Pathogenic
15	48425420	A	G	A48425420G	FBN1	NM_000138.4(FBN1):c.7402T>C:p.Cys2468Arg	coding	Pathogenic/Likely_pathogenic
15	48425423	G	A	G48425423A	FBN1	NM_000138.4(FBN1):c.7399C>T:p.Gln2467Ter	coding	Pathogenic
15	48425424	G	C	G48425424C	FBN1	NM_000138.4(FBN1):c.7398C>G:p.Tyr2466Ter	coding	Pathogenic
15	48425424	G	T	G48425424T	FBN1	NM_000138.4(FBN1):c.7398C>A:p.Tyr2466Ter	coding	Pathogenic
15	48425480	A	G	A48425480G	FBN1	NM_000138.4(FBN1):c.7342T>C:p.Cys2448Arg	coding	Pathogenic
15	48425483	C	T	C48425483T	FBN1	NM_000138.4(FBN1):c.7339G>A:p.Glu2447Lys	coding	Pathogenic/Likely_pathogenic
15	48425491	T	C	T48425491C	FBN1	NM_000138.4(FBN1):c.7331A>G:p.Asp2444Gly	coding	Pathogenic
15	48425735	T	C	T48425735C	FBN1	NM_000138.5(FBN1):c.7330+4A>G	noncoding	Benign
15	48425738	C	T	C48425738T	FBN1	NM_000138.4(FBN1):c.7330+1G>A	noncoding	Pathogenic
15	48425744	C	T	C48425744T	FBN1	NM_000138.4(FBN1):c.7325G>A:p.Cys2442Tyr	coding	Pathogenic
15	48425802	C	A	C48425802A	FBN1	NM_000138.4(FBN1):c.7267G>T:p.Gly2423Ter	coding	Pathogenic
15	48425820	C	A	C48425820A	FBN1	NM_000138.5(FBN1):c.7249G>T:p.Glu2417Ter	coding	Pathogenic
15	48425829	G	A	G48425829A	FBN1	NM_000138.4(FBN1):c.7240C>T:p.Arg2414Ter	coding	Pathogenic
15	48425865	C	G	C48425865G	FBN1	NM_000138.5(FBN1):c.7205-1G>C	coding	Pathogenic
15	48425865	C	T	C48425865T	FBN1	NM_000138.4(FBN1):c.7205-1G>A	coding	Pathogenic/Likely_pathogenic
15	48427591	G	A	G48427591A	FBN1	NM_000138.5(FBN1):c.7180C>T:p.Arg2394Ter	coding	Pathogenic
15	48427630	G	A	G48427630A	FBN1	NM_000138.4(FBN1):c.7141C>T:p.Gln2381Ter	coding	Pathogenic/Likely_pathogenic
15	48427646	A	T	A48427646T	FBN1	NM_000138.4(FBN1):c.7125T>A:p.Cys2375Ter	coding	Pathogenic
15	48427658	C	T	C48427658T	FBN1	NM_000138.5(FBN1):c.7113G>A:p.Trp2371Ter	coding	Pathogenic
15	48427659	C	T	C48427659T	FBN1	NM_000138.4(FBN1):c.7112G>A:p.Trp2371Ter	coding	Pathogenic
15	48427672	C	A	C48427672A	FBN1	NM_000138.4(FBN1):c.7099G>T:p.Gly2367Ter	coding	Pathogenic
15	48427673	G	A	G48427673A	FBN1	NM_000138.5(FBN1):c.7098C>T:p.Asp2366=	coding	Benign/Likely_benign
15	48427679	G	T	G48427679T	FBN1	NM_000138.4(FBN1):c.7092C>A:p.Cys2364Ter	coding	Pathogenic
15	48427689	G	T	G48427689T	FBN1	NM_000138.4(FBN1):c.7082C>A:p.Ser2361Ter	coding	Pathogenic
15	48427756	A	G	A48427756G	FBN1	NM_000138.4(FBN1):c.7015T>C:p.Cys2339Arg	coding	Pathogenic
15	48427765	C	A	C48427765A	FBN1	NM_000138.4(FBN1):c.7006G>T:p.Glu2336Ter	coding	Pathogenic
15	48427775	T	A	T48427775A	FBN1	NM_000138.4(FBN1):c.6998-2A>T	noncoding	Pathogenic
15	48428074	C	T	C48428074T	FBN1	NM_000138.4(FBN1):c.6997+272G>A	noncoding	Benign
15	48428329	G	C	G48428329C	FBN1	NM_000138.4(FBN1):c.6997+17C>G	noncoding	Benign
15	48428344	A	G	A48428344G	FBN1	NM_000138.4(FBN1):c.6997+2T>C	noncoding	Pathogenic
15	48428345	C	G	C48428345G	FBN1	NM_000138.5(FBN1):c.6997+1G>C	noncoding	Pathogenic
15	48428345	C	T	C48428345T	FBN1	NM_000138.5(FBN1):c.6997+1G>A	noncoding	Pathogenic
15	48428356	G	C	G48428356C	FBN1	NM_000138.4(FBN1):c.6987C>G:p.Asp2329Glu	coding	Benign/Likely_benign
15	48428390	C	T	C48428390T	FBN1	NM_000138.4(FBN1):c.6953G>A:p.Cys2318Tyr	coding	Pathogenic
15	48428395	A	T	A48428395T	FBN1	NM_000138.4(FBN1):c.6948T>A:p.Cys2316Ter	coding	Pathogenic
15	48428401	G	A	G48428401A	FBN1	NM_000138.4(FBN1):c.6942C>T:p.Tyr2314=	coding	Benign/Likely_benign
15	48428423	C	G	C48428423G	FBN1	NM_000138.4(FBN1):c.6920G>C:p.Cys2307Ser	coding	Pathogenic
15	48428438	C	T	C48428438T	FBN1	NM_000138.5(FBN1):c.6905G>A:p.Cys2302Tyr	coding	Pathogenic
15	48428439	A	T	A48428439T	FBN1	NM_000138.4(FBN1):c.6904T>A:p.Cys2302Ser	coding	Pathogenic/Likely_pathogenic
15	48428455	C	T	C48428455T	FBN1	NM_000138.5(FBN1):c.6888G>A:p.Gln2296=	coding	Benign
15	48428457	G	A	G48428457A	FBN1	NM_000138.5(FBN1):c.6886C>T:p.Gln2296Ter	coding	Pathogenic
15	48428459	C	T	C48428459T	FBN1	NM_000138.4(FBN1):c.6884G>A:p.Cys2295Tyr	coding	Pathogenic
15	48428460	A	G	A48428460G	FBN1	NM_000138.4(FBN1):c.6883T>C:p.Cys2295Arg	coding	Pathogenic
15	48428472	C	A	C48428472A	FBN1	NM_000138.4(FBN1):c.6872-1G>T	coding	Pathogenic
15	48428473	T	C	T48428473C	FBN1	NM_000138.4(FBN1):c.6872-2A>G	noncoding	Pathogenic
15	48430670	C	A	C48430670A	FBN1	NM_000138.4(FBN1):c.6871+1G>T	noncoding	Pathogenic
15	48430670	C	T	C48430670T	FBN1	NM_000138.4(FBN1):c.6871+1G>A	noncoding	Pathogenic
15	48430671	C	T	C48430671T	FBN1	NM_000138.4(FBN1):c.6871G>A:p.Asp2291Asn	coding	Pathogenic
15	48430676	C	T	C48430676T	FBN1	NM_000138.4(FBN1):c.6866G>A:p.Cys2289Tyr	coding	Pathogenic
15	48430687	A	G	A48430687G	FBN1	NM_000138.5(FBN1):c.6855T>C:p.Asp2285=	coding	Benign
15	48430705	C	T	C48430705T	FBN1	NM_000138.4(FBN1):c.6837G>A:p.Gly2279=	coding	Benign/Likely_benign
15	48430710	G	A	G48430710A	FBN1	NM_000138.5(FBN1):c.6832C>T:p.Pro2278Ser	coding	Benign/Likely_benign
15	48430715	C	T	C48430715T	FBN1	NM_000138.4(FBN1):c.6827G>A:p.Cys2276Tyr	coding	Pathogenic
15	48430726	A	C	A48430726C	FBN1	NM_000138.5(FBN1):c.6816T>G:p.Tyr2272Ter	coding	Pathogenic
15	48430736	A	G	A48430736G	FBN1	NM_000138.5(FBN1):c.6806T>C:p.Ile2269Thr	coding	Pathogenic/Likely_pathogenic
15	48430742	T	A	T48430742A	FBN1	NM_000138.4(FBN1):c.6800A>T:p.Asn2267Ile	coding	Pathogenic
15	48430758	G	A	G48430758A	FBN1	NM_000138.4(FBN1):c.6784C>T:p.Gln2262Ter	coding	Pathogenic
15	48430770	A	G	A48430770G	FBN1	NM_000138.4(FBN1):c.6772T>C:p.Cys2258Arg	coding	Pathogenic
15	48430785	C	A	C48430785A	FBN1	NM_000138.4(FBN1):c.6757G>T:p.Glu2253Ter	coding	Pathogenic
15	48430790	C	T	C48430790T	FBN1	NM_000138.4(FBN1):c.6752G>A:p.Cys2251Tyr	coding	Pathogenic
15	48430791	A	G	A48430791G	FBN1	NM_000138.4(FBN1):c.6751T>C:p.Cys2251Arg	coding	Pathogenic
15	48430791	A	T	A48430791T	FBN1	NM_000138.4(FBN1):c.6751T>A:p.Cys2251Ser	coding	Pathogenic/Likely_pathogenic
15	48430803	C	A	C48430803A	FBN1	NM_000138.4(FBN1):c.6740-1G>T	coding	Pathogenic
15	48430803	C	T	C48430803T	FBN1	NM_000138.4(FBN1):c.6740-1G>A	coding	Pathogenic
15	48432571	C	T	C48432571T	FBN1	NM_000138.4(FBN1):c.6739+295G>A	noncoding	Benign
15	48432865	C	G	C48432865G	FBN1	NM_000138.4(FBN1):c.6739+1G>C	noncoding	Pathogenic
15	48432865	C	T	C48432865T	FBN1	NM_000138.4(FBN1):c.6739+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48432870	G	T	G48432870T	FBN1	NM_000138.5(FBN1):c.6735C>A:p.Cys2245Ter	coding	Pathogenic
15	48432871	C	T	C48432871T	FBN1	NM_000138.5(FBN1):c.6734G>A:p.Cys2245Tyr	coding	Pathogenic
15	48432900	T	G	T48432900G	FBN1	NM_000138.4(FBN1):c.6705A>C:p.Gly2235=	coding	Benign/Likely_benign
15	48432910	C	T	C48432910T	FBN1	NM_000138.4(FBN1):c.6695G>A:p.Cys2232Tyr	coding	Pathogenic
15	48432911	A	G	A48432911G	FBN1	NM_000138.4(FBN1):c.6694T>C:p.Cys2232Arg	coding	Pathogenic/Likely_pathogenic
15	48432943	C	G	C48432943G	FBN1	NM_000138.4(FBN1):c.6662G>C:p.Cys2221Ser	coding	Pathogenic
15	48432943	C	T	C48432943T	FBN1	NM_000138.4(FBN1):c.6662G>A:p.Cys2221Tyr	coding	Pathogenic
15	48432944	A	G	A48432944G	FBN1	NM_000138.4(FBN1):c.6661T>C:p.Cys2221Arg	coding	Pathogenic/Likely_pathogenic
15	48432947	G	A	G48432947A	FBN1	NM_000138.5(FBN1):c.6658C>T:p.Arg2220Ter	coding	Pathogenic/Likely_pathogenic
15	48432955	C	T	C48432955T	FBN1	NM_000138.4(FBN1):c.6650G>A:p.Cys2217Tyr	coding	Pathogenic/Likely_pathogenic
15	48432971	G	A	G48432971A	FBN1	NM_000138.4(FBN1):c.6634C>T:p.Gln2212Ter	coding	Pathogenic
15	48432975	A	T	A48432975T	FBN1	NM_000138.4(FBN1):c.6630T>A:p.Cys2210Ter	coding	Pathogenic
15	48432980	C	A	C48432980A	FBN1	NM_000138.4(FBN1):c.6625G>T:p.Glu2209Ter	coding	Pathogenic
15	48433009	T	A	T48433009A	FBN1	NM_000138.4(FBN1):c.6617-21A>T	noncoding	Benign
15	48434577	C	T	C48434577T	FBN1	NM_000138.4(FBN1):c.6616+17G>A	noncoding	Benign
15	48434593	C	G	C48434593G	FBN1	NM_000138.4(FBN1):c.6616+1G>C	noncoding	Pathogenic
15	48434593	C	T	C48434593T	FBN1	NM_000138.4(FBN1):c.6616+1G>A	noncoding	Pathogenic
15	48434599	C	T	C48434599T	FBN1	NM_000138.4(FBN1):c.6611G>A:p.Cys2204Tyr	coding	Pathogenic
15	48434600	A	G	A48434600G	FBN1	NM_000138.4(FBN1):c.6610T>C:p.Cys2204Arg	coding	Pathogenic/Likely_pathogenic
15	48434616	G	A	G48434616A	FBN1	NM_000138.5(FBN1):c.6594C>T:p.Pro2198=	coding	Benign/Likely_benign
15	48434626	C	A	C48434626A	FBN1	NM_000138.4(FBN1):c.6584G>T:p.Gly2195Val	coding	Pathogenic
15	48434627	C	A	C48434627A	FBN1	NM_000138.4(FBN1):c.6583G>T:p.Gly2195Ter	coding	Pathogenic
15	48434634	G	A	G48434634A	FBN1	NM_000138.4(FBN1):c.6576C>T:p.Cys2192=	coding	Benign/Likely_benign
15	48434736	C	G	C48434736G	FBN1	NM_000138.4(FBN1):c.6497-23G>C	noncoding	Benign
15	48436959	A	C	A48436959C	FBN1	NM_000138.4(FBN1):c.6496+2T>G	noncoding	Pathogenic
15	48436960	C	A	C48436960A	FBN1	NM_000138.5(FBN1):c.6496+1G>T	noncoding	Pathogenic
15	48436961	C	T	C48436961T	FBN1	NM_000138.4(FBN1):c.6496G>A:p.Asp2166Asn	coding	Pathogenic
15	48436965	A	T	A48436965T	FBN1	NM_000138.4(FBN1):c.6492T>A:p.Cys2164Ter	coding	Pathogenic
15	48436970	C	A	C48436970A	FBN1	NM_000138.4(FBN1):c.6487G>T:p.Glu2163Ter	coding	Pathogenic/Likely_pathogenic
15	48436986	A	T	A48436986T	FBN1	NM_000138.4(FBN1):c.6471T>A:p.Tyr2157Ter	coding	Pathogenic
15	48437004	G	A	G48437004A	FBN1	NM_000138.4(FBN1):c.6453C>T:p.Cys2151=	coding	Pathogenic/Likely_pathogenic
15	48437004	G	C	G48437004C	FBN1	NM_000138.4(FBN1):c.6453C>G:p.Cys2151Trp	coding	Pathogenic
15	48437026	T	C	T48437026C	FBN1	NM_000138.4(FBN1):c.6431A>G:p.Asn2144Ser	coding	Pathogenic/Likely_pathogenic
15	48437032	C	T	C48437032T	FBN1	NM_000138.4(FBN1):c.6425G>A:p.Cys2142Tyr	coding	Pathogenic
15	48437039	C	T	C48437039T	FBN1	NM_000138.4(FBN1):c.6418G>A:p.Gly2140Arg	coding	Pathogenic/Likely_pathogenic
15	48437047	C	G	C48437047G	FBN1	NM_000138.4(FBN1):c.6410G>C:p.Cys2137Ser	coding	Pathogenic
15	48437064	G	A	G48437064A	FBN1	NM_000138.5(FBN1):c.6393C>T:p.Cys2131=	coding	Benign/Likely_benign
15	48437064	G	C	G48437064C	FBN1	NM_000138.4(FBN1):c.6393C>G:p.Cys2131Trp	coding	Pathogenic
15	48437066	A	T	A48437066T	FBN1	NM_000138.4(FBN1):c.6391T>A:p.Cys2131Ser	coding	Pathogenic
15	48437069	C	A	C48437069A	FBN1	NM_000138.4(FBN1):c.6388G>T:p.Glu2130Ter	coding	Pathogenic
15	48437069	C	T	C48437069T	FBN1	NM_000138.4(FBN1):c.6388G>A:p.Glu2130Lys	coding	Pathogenic/Likely_pathogenic
15	48437078	C	A	C48437078A	FBN1	NM_000138.4(FBN1):c.6380-1G>T	coding	Pathogenic
15	48437079	T	G	T48437079G	FBN1	NM_000138.4(FBN1):c.6380-2A>C	noncoding	Pathogenic
15	48437318	T	C	T48437318C	FBN1	NM_000138.5(FBN1):c.6379+4A>G	noncoding	Benign/Likely_benign
15	48437320	A	G	A48437320G	FBN1	NM_000138.4(FBN1):c.6379+2T>C	noncoding	Pathogenic
15	48437321	C	T	C48437321T	FBN1	NM_000138.5(FBN1):c.6379+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48437347	G	A	G48437347A	FBN1	NM_000138.5(FBN1):c.6354C>T:p.Ile2118=	coding	Pathogenic/Likely_pathogenic
15	48437362	A	C	A48437362C	FBN1	NM_000138.4(FBN1):c.6339T>G:p.Tyr2113Ter	coding	Pathogenic
15	48437376	G	A	G48437376A	FBN1	NM_000138.4(FBN1):c.6325C>T:p.Gln2109Ter	coding	Pathogenic
15	48437766	A	G	A48437766G	FBN1	NM_000138.4(FBN1):c.6313+2T>C	noncoding	Pathogenic
15	48437768	C	A	C48437768A	FBN1	NM_000138.4(FBN1):c.6313G>T:p.Glu2105Ter	coding	Pathogenic
15	48437785	C	A	C48437785A	FBN1	NM_000138.4(FBN1):c.6296G>T:p.Cys2099Phe	coding	Pathogenic
15	48437785	C	T	C48437785T	FBN1	NM_000138.5(FBN1):c.6296G>A:p.Cys2099Tyr	coding	Pathogenic
15	48437793	G	A	G48437793A	FBN1	NM_000138.5(FBN1):c.6288C>T:p.Cys2096=	coding	Benign/Likely_benign
15	48437807	A	G	A48437807G	FBN1	NM_000138.4(FBN1):c.6274T>C:p.Trp2092Arg	coding	Pathogenic
15	48437813	C	A	C48437813A	FBN1	NM_000138.4(FBN1):c.6268G>T:p.Glu2090Ter	coding	Pathogenic
15	48437830	C	A	C48437830A	FBN1	NM_000138.4(FBN1):c.6251G>T:p.Cys2084Phe	coding	Pathogenic
15	48437837	C	A	C48437837A	FBN1	NM_000138.4(FBN1):c.6244G>T:p.Glu2082Ter	coding	Pathogenic/Likely_pathogenic
15	48437866	G	T	G48437866T	FBN1	NM_000138.5(FBN1):c.6215C>A:p.Ser2072Ter	coding	Pathogenic
15	48437895	A	C	A48437895C	FBN1	NM_000138.4(FBN1):c.6186T>G:p.Tyr2062Ter	coding	Pathogenic
15	48437901	G	C	G48437901C	FBN1	NM_000138.5(FBN1):c.6180C>G:p.Tyr2060Ter	coding	Pathogenic
15	48437912	G	A	G48437912A	FBN1	NM_000138.4(FBN1):c.6169C>T:p.Arg2057Ter	coding	Pathogenic
15	48437918	C	T	C48437918T	FBN1	NM_000138.4(FBN1):c.6164-1G>A	coding	Pathogenic
15	48437919	T	A	T48437919A	FBN1	NM_000138.4(FBN1):c.6164-2A>T	noncoding	Pathogenic
15	48437919	T	C	T48437919C	FBN1	NM_000138.4(FBN1):c.6164-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	48441428	C	T	C48441428T	FBN1	NM_000138.4(FBN1):c.6163+293G>A	noncoding	Benign
15	48441724	G	A	G48441724A	FBN1	NM_000138.4(FBN1):c.6160C>T:p.Gln2054Ter	coding	Pathogenic
15	48441725	G	T	G48441725T	FBN1	NM_000138.4(FBN1):c.6159C>A:p.Cys2053Ter	coding	Pathogenic
15	48441726	C	T	C48441726T	FBN1	NM_000138.4(FBN1):c.6158G>A:p.Cys2053Tyr	coding	Pathogenic
15	48441797	G	T	G48441797T	FBN1	NM_000138.4(FBN1):c.6087C>A:p.Cys2029Ter	coding	Pathogenic
15	48441811	C	A	C48441811A	FBN1	NM_000138.4(FBN1):c.6073G>T:p.Ala2025Ser	coding	Benign/Likely_benign
15	48441820	C	A	C48441820A	FBN1	NM_000138.4(FBN1):c.6064G>T:p.Glu2022Ter	coding	Pathogenic
15	48441830	G	A	G48441830A	FBN1	NM_000138.4(FBN1):c.6054C>T:p.Val2018=	coding	Benign/Likely_benign
15	48441835	A	G	A48441835G	FBN1	NM_000138.4(FBN1):c.6049T>C:p.Cys2017Arg	coding	Pathogenic/Likely_pathogenic
15	48441847	C	T	C48441847T	FBN1	NM_000138.4(FBN1):c.6038-1G>A	coding	Pathogenic
15	48441854	A	T	A48441854T	FBN1	NM_000138.4(FBN1):c.6038-8T>A	noncoding	Benign/Likely_benign
15	48444539	A	G	A48444539G	FBN1	NM_000138.5(FBN1):c.6037+2T>C	noncoding	Pathogenic
15	48444540	C	T	C48444540T	FBN1	NM_000138.4(FBN1):c.6037+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48444585	C	T	C48444585T	FBN1	NM_000138.4(FBN1):c.5993G>A:p.Cys1998Tyr	coding	Pathogenic/Likely_pathogenic
15	48444612	C	A	C48444612A	FBN1	NM_000138.4(FBN1):c.5966G>T:p.Cys1989Phe	coding	Pathogenic
15	48444648	C	T	C48444648T	FBN1	NM_000138.4(FBN1):c.5930G>A:p.Cys1977Tyr	coding	Pathogenic
15	48444661	C	G	C48444661G	FBN1	NM_000138.4(FBN1):c.5918-1G>C	coding	Pathogenic
15	48444661	C	T	C48444661T	FBN1	NM_000138.4(FBN1):c.5918-1G>A	coding	Pathogenic
15	48445375	C	T	C48445375T	FBN1	NM_000138.4(FBN1):c.5917+1G>A	noncoding	Pathogenic
15	48445382	A	G	A48445382G	FBN1	NM_000138.5(FBN1):c.5911T>C:p.Cys1971Arg	coding	Pathogenic
15	48445419	G	T	G48445419T	FBN1	NM_000138.4(FBN1):c.5874C>A:p.Cys1958Ter	coding	Pathogenic/Likely_pathogenic
15	48445430	G	A	G48445430A	FBN1	NM_000138.5(FBN1):c.5863C>T:p.Gln1955Ter	coding	Pathogenic
15	48445468	C	G	C48445468G	FBN1	NM_000138.4(FBN1):c.5825G>C:p.Cys1942Ser	coding	Pathogenic
15	48445484	C	A	C48445484A	FBN1	NM_000138.4(FBN1):c.5809G>T:p.Gly1937Ter	coding	Pathogenic
15	48445492	C	G	C48445492G	FBN1	NM_000138.4(FBN1):c.5801G>C:p.Cys1934Ser	coding	Pathogenic
15	48445492	C	T	C48445492T	FBN1	NM_000138.4(FBN1):c.5801G>A:p.Cys1934Tyr	coding	Pathogenic
15	48445505	C	T	C48445505T	FBN1	NM_000138.5(FBN1):c.5789-1G>A	coding	Pathogenic
15	48445506	T	C	T48445506C	FBN1	NM_000138.4(FBN1):c.5789-2A>G	noncoding	Pathogenic
15	48446696	G	T	G48446696T	FBN1	NM_000138.5(FBN1):c.5788+10C>A	noncoding	Benign/Likely_benign
15	48446701	C	T	C48446701T	FBN1	NM_000138.5(FBN1):c.5788+5G>A	noncoding	Pathogenic
15	48446705	C	T	C48446705T	FBN1	NM_000138.4(FBN1):c.5788+1G>A	noncoding	Pathogenic
15	48446706	C	T	C48446706T	FBN1	NM_000138.4(FBN1):c.5788G>A:p.Asp1930Asn	coding	Pathogenic
15	48446711	C	A	C48446711A	FBN1	NM_000138.4(FBN1):c.5783G>T:p.Cys1928Phe	coding	Pathogenic
15	48446711	C	T	C48446711T	FBN1	NM_000138.4(FBN1):c.5783G>A:p.Cys1928Tyr	coding	Pathogenic
15	48446712	A	G	A48446712G	FBN1	NM_000138.5(FBN1):c.5782T>C:p.Cys1928Arg	coding	Pathogenic
15	48446748	A	C	A48446748C	FBN1	NM_000138.5(FBN1):c.5746T>G:p.Cys1916Gly	coding	Pathogenic
15	48446748	A	G	A48446748G	FBN1	NM_000138.4(FBN1):c.5746T>C:p.Cys1916Arg	coding	Pathogenic
15	48446794	A	T	A48446794T	FBN1	NM_000138.4(FBN1):c.5700T>A:p.Cys1900Ter	coding	Pathogenic
15	48446795	C	A	C48446795A	FBN1	NM_000138.4(FBN1):c.5699G>T:p.Cys1900Phe	coding	Pathogenic
15	48446795	C	T	C48446795T	FBN1	NM_000138.4(FBN1):c.5699G>A:p.Cys1900Tyr	coding	Pathogenic
15	48446823	C	G	C48446823G	FBN1	NM_000138.4(FBN1):c.5672-1G>C	coding	Pathogenic
15	48446824	T	C	T48446824C	FBN1	NM_000138.4(FBN1):c.5672-2A>G	noncoding	Pathogenic
15	48447077	A	G	A48447077G	FBN1	NM_000138.4(FBN1):c.5672-255T>C	noncoding	Benign
15	48448767	C	A	C48448767A	FBN1	NM_000138.4(FBN1):c.5671+1G>T	noncoding	Pathogenic
15	48448767	C	T	C48448767T	FBN1	NM_000138.5(FBN1):c.5671+1G>A	noncoding	Pathogenic
15	48448773	C	A	C48448773A	FBN1	NM_000138.4(FBN1):c.5666G>T:p.Cys1889Phe	coding	Pathogenic
15	48448773	C	T	C48448773T	FBN1	NM_000138.5(FBN1):c.5666G>A:p.Cys1889Tyr	coding	Pathogenic/Likely_pathogenic
15	48448803	C	T	C48448803T	FBN1	NM_000138.5(FBN1):c.5636G>A:p.Gly1879Asp	coding	Pathogenic
15	48448812	C	G	C48448812G	FBN1	NM_000138.4(FBN1):c.5627G>C:p.Cys1876Ser	coding	Pathogenic
15	48448812	C	T	C48448812T	FBN1	NM_000138.4(FBN1):c.5627G>A:p.Cys1876Tyr	coding	Pathogenic
15	48448813	A	G	A48448813G	FBN1	NM_000138.4(FBN1):c.5626T>C:p.Cys1876Arg	coding	Pathogenic/Likely_pathogenic
15	48448844	G	T	G48448844T	FBN1	NM_000138.4(FBN1):c.5595C>A:p.Cys1865Ter	coding	Pathogenic
15	48448849	G	A	G48448849A	FBN1	NM_000138.4(FBN1):c.5590C>T:p.Gln1864Ter	coding	Pathogenic
15	48448860	C	T	C48448860T	FBN1	NM_000138.4(FBN1):c.5579G>A:p.Cys1860Tyr	coding	Pathogenic
15	48448881	C	G	C48448881G	FBN1	NM_000138.4(FBN1):c.5558G>C:p.Cys1853Ser	coding	Pathogenic
15	48448882	A	T	A48448882T	FBN1	NM_000138.4(FBN1):c.5557T>A:p.Cys1853Ser	coding	Pathogenic
15	48449196	C	T	C48449196T	FBN1	NM_000138.4(FBN1):c.5546-303G>A	noncoding	Benign
15	48449204	G	A	G48449204A	FBN1	NM_000138.4(FBN1):c.5546-311C>T	noncoding	Benign
15	48452292	C	A	C48452292A	FBN1	NM_000138.4(FBN1):c.5545+270G>T	noncoding	Benign
15	48452571	G	A	G48452571A	FBN1	NM_000138.4(FBN1):c.5536C>T:p.Gln1846Ter	coding	Pathogenic
15	48452603	C	T	C48452603T	FBN1	NM_000138.5(FBN1):c.5504G>A:p.Cys1835Tyr	coding	Pathogenic/Likely_pathogenic
15	48452604	A	T	A48452604T	FBN1	NM_000138.4(FBN1):c.5503T>A:p.Cys1835Ser	coding	Pathogenic
15	48452614	G	C	G48452614C	FBN1	NM_000138.4(FBN1):c.5493C>G:p.Tyr1831Ter	coding	Pathogenic
15	48452614	G	T	G48452614T	FBN1	NM_000138.4(FBN1):c.5493C>A:p.Tyr1831Ter	coding	Pathogenic
15	48452636	C	A	C48452636A	FBN1	NM_000138.4(FBN1):c.5471G>T:p.Cys1824Phe	coding	Pathogenic
15	48452636	C	T	C48452636T	FBN1	NM_000138.4(FBN1):c.5471G>A:p.Cys1824Tyr	coding	Pathogenic
15	48452665	G	A	G48452665A	FBN1	NM_000138.5(FBN1):c.5442C>T:p.Asn1814=	coding	Benign/Likely_benign
15	48452670	G	A	G48452670A	FBN1	NM_000138.5(FBN1):c.5437C>T:p.Gln1813Ter	coding	Pathogenic/Likely_pathogenic
15	48452673	A	G	A48452673G	FBN1	NM_000138.4(FBN1):c.5434T>C:p.Cys1812Arg	coding	Pathogenic
15	48452676	C	A	C48452676A	FBN1	NM_000138.4(FBN1):c.5431G>T:p.Glu1811Ter	coding	Pathogenic
15	48452686	T	C	T48452686C	FBN1	NM_000138.4(FBN1):c.5423-2A>G	noncoding	Pathogenic
15	48456641	A	C	A48456641C	FBN1	NM_000138.5(FBN1):c.5418T>G:p.Cys1806Trp	coding	Pathogenic
15	48456681	C	T	C48456681T	FBN1	NM_000138.4(FBN1):c.5378G>A:p.Cys1793Tyr	coding	Pathogenic
15	48456682	A	G	A48456682G	FBN1	NM_000138.4(FBN1):c.5377T>C:p.Cys1793Arg	coding	Pathogenic
15	48456682	A	T	A48456682T	FBN1	NM_000138.4(FBN1):c.5377T>A:p.Cys1793Ser	coding	Pathogenic
15	48456686	A	C	A48456686C	FBN1	NM_000138.4(FBN1):c.5373T>G:p.Cys1791Trp	coding	Pathogenic
15	48456687	C	T	C48456687T	FBN1	NM_000138.4(FBN1):c.5372G>A:p.Cys1791Tyr	coding	Pathogenic/Likely_pathogenic
15	48456688	A	G	A48456688G	FBN1	NM_000138.4(FBN1):c.5371T>C:p.Cys1791Arg	coding	Pathogenic/Likely_pathogenic
15	48456691	G	A	G48456691A	FBN1	NM_000138.5(FBN1):c.5368C>T:p.Arg1790Ter	coding	Pathogenic
15	48456714	C	T	C48456714T	FBN1	NM_000138.4(FBN1):c.5345G>A:p.Cys1782Tyr	coding	Pathogenic/Likely_pathogenic
15	48456716	C	T	C48456716T	FBN1	NM_000138.5(FBN1):c.5343G>A:p.Val1781=	coding	Benign/Likely_benign
15	48456763	C	T	C48456763T	FBN1	NM_000138.4(FBN1):c.5297-1G>A	coding	Pathogenic
15	48460232	C	T	C48460232T	FBN1	NM_000138.4(FBN1):c.5296+14G>A	noncoding	Benign/Likely_benign
15	48460241	C	G	C48460241G	FBN1	NM_000138.4(FBN1):c.5296+5G>C	noncoding	Pathogenic
15	48460243	C	A	C48460243A	FBN1	NM_000138.5(FBN1):c.5296+3G>T	noncoding	Pathogenic
15	48460258	C	T	C48460258T	FBN1	NM_000138.4(FBN1):c.5284G>A:p.Gly1762Ser	coding	Pathogenic
15	48460292	A	C	A48460292C	FBN1	NM_000138.4(FBN1):c.5250T>G:p.Ser1750Arg	coding	Pathogenic
15	48460299	C	A	C48460299A	FBN1	NM_000138.4(FBN1):c.5243G>T:p.Cys1748Phe	coding	Pathogenic
15	48463098	A	T	A48463098T	FBN1	NM_000138.4(FBN1):c.5208T>A:p.Cys1736Ter	coding	Pathogenic
15	48463109	A	C	A48463109C	FBN1	NM_000138.4(FBN1):c.5197T>G:p.Cys1733Gly	coding	Pathogenic
15	48463119	C	T	C48463119T	FBN1	NM_000138.5(FBN1):c.5187G>A:p.Trp1729Ter	coding	Pathogenic
15	48463123	G	A	G48463123A	FBN1	NM_000138.4(FBN1):c.5183C>T:p.Ala1728Val	coding	Pathogenic/Likely_pathogenic
15	48463124	C	T	C48463124T	FBN1	NM_000138.4(FBN1):c.5182G>A:p.Ala1728Thr	coding	Pathogenic
15	48463144	C	T	C48463144T	FBN1	NM_000138.5(FBN1):c.5162G>A:p.Cys1721Tyr	coding	Pathogenic
15	48463149	G	T	G48463149T	FBN1	NM_000138.5(FBN1):c.5157C>A:p.Cys1719Ter	coding	Pathogenic
15	48463150	C	T	C48463150T	FBN1	NM_000138.4(FBN1):c.5156G>A:p.Cys1719Tyr	coding	Pathogenic
15	48463181	C	A	C48463181A	FBN1	NM_000138.5(FBN1):c.5125G>T:p.Glu1709Ter	coding	Pathogenic
15	48463207	T	C	T48463207C	FBN1	NM_000138.4(FBN1):c.5099A>G:p.Tyr1700Cys	coding	Pathogenic
15	48463209	G	A	G48463209A	FBN1	NM_000138.4(FBN1):c.5097C>T:p.Tyr1699=	coding	Benign/Likely_benign
15	48463209	G	C	G48463209C	FBN1	NM_000138.4(FBN1):c.5097C>G:p.Tyr1699Ter	coding	Pathogenic
15	48463210	T	C	T48463210C	FBN1	NM_000138.4(FBN1):c.5096A>G:p.Tyr1699Cys	coding	Pathogenic
15	48463241	C	G	C48463241G	FBN1	NM_000138.5(FBN1):c.5066-1G>C	coding	Pathogenic
15	48463241	C	T	C48463241T	FBN1	NM_000138.4(FBN1):c.5066-1G>A	coding	Pathogenic
15	48463252	G	T	G48463252T	FBN1	NM_000138.5(FBN1):c.5066-12C>A	noncoding	Benign
15	48463275	G	A	G48463275A	FBN1	NM_000138.4(FBN1):c.5066-35C>T	noncoding	Benign
15	48463333	T	C	T48463333C	FBN1	NM_000138.4(FBN1):c.5066-93A>G	noncoding	Benign
15	48463522	T	C	T48463522C	FBN1	NM_000138.4(FBN1):c.5066-282A>G	noncoding	Benign
15	48463617	T	C	T48463617C	FBN1	NM_000138.4(FBN1):c.5065+282A>G	noncoding	Benign
15	48463889	T	C	T48463889C	FBN1	NM_000138.5(FBN1):c.5065+10A>G	noncoding	Benign/Likely_benign
15	48463898	C	G	C48463898G	FBN1	NM_000138.4(FBN1):c.5065+1G>C	noncoding	Pathogenic
15	48463898	C	T	C48463898T	FBN1	NM_000138.5(FBN1):c.5065+1G>A	noncoding	Pathogenic
15	48463926	G	A	G48463926A	FBN1	NM_000138.4(FBN1):c.5038C>T:p.Gln1680Ter	coding	Pathogenic
15	48463943	C	A	C48463943A	FBN1	NM_000138.4(FBN1):c.5021G>T:p.Cys1674Phe	coding	Pathogenic
15	48463943	C	T	C48463943T	FBN1	NM_000138.4(FBN1):c.5021G>A:p.Cys1674Tyr	coding	Pathogenic
15	48463948	A	T	A48463948T	FBN1	NM_000138.5(FBN1):c.5016T>A:p.Cys1672Ter	coding	Pathogenic
15	48463949	C	A	C48463949A	FBN1	NM_000138.4(FBN1):c.5015G>T:p.Cys1672Phe	coding	Pathogenic
15	48463949	C	G	C48463949G	FBN1	NM_000138.4(FBN1):c.5015G>C:p.Cys1672Ser	coding	Pathogenic
15	48463949	C	T	C48463949T	FBN1	NM_000138.4(FBN1):c.5015G>A:p.Cys1672Tyr	coding	Pathogenic/Likely_pathogenic
15	48463950	A	C	A48463950C	FBN1	NM_000138.4(FBN1):c.5014T>G:p.Cys1672Gly	coding	Pathogenic/Likely_pathogenic
15	48463976	C	A	C48463976A	FBN1	NM_000138.4(FBN1):c.4988G>T:p.Cys1663Phe	coding	Pathogenic
15	48463977	A	G	A48463977G	FBN1	NM_000138.4(FBN1):c.4987T>C:p.Cys1663Arg	coding	Pathogenic
15	48464009	C	T	C48464009T	FBN1	NM_000138.5(FBN1):c.4955G>A:p.Cys1652Tyr	coding	Pathogenic
15	48464998	A	G	A48464998G	FBN1	NM_000138.5(FBN1):c.4942+570T>C	noncoding	Benign
15	48465263	T	C	T48465263C	FBN1	NM_000138.4(FBN1):c.4942+305A>G	noncoding	Benign
15	48465567	C	T	C48465567T	FBN1	NM_000138.4(FBN1):c.4942+1G>A	noncoding	Pathogenic
15	48465573	C	T	C48465573T	FBN1	NM_000138.5(FBN1):c.4937G>A:p.Cys1646Tyr	coding	Pathogenic/Likely_pathogenic
15	48465580	G	A	G48465580A	FBN1	NM_000138.4(FBN1):c.4930C>T:p.Arg1644Ter	coding	Pathogenic
15	48465596	G	T	G48465596T	FBN1	NM_000138.4(FBN1):c.4914C>A:p.Tyr1638Ter	coding	Pathogenic
15	48465599	G	T	G48465599T	FBN1	NM_000138.4(FBN1):c.4911C>A:p.Tyr1637Ter	coding	Pathogenic
15	48465605	G	C	G48465605C	FBN1	NM_000138.5(FBN1):c.4905C>G:p.Thr1635=	coding	Benign/Likely_benign
15	48465617	G	T	G48465617T	FBN1	NM_000138.4(FBN1):c.4893C>A:p.Cys1631Ter	coding	Pathogenic
15	48465622	G	A	G48465622A	FBN1	NM_000138.4(FBN1):c.4888C>T:p.Gln1630Ter	coding	Pathogenic
15	48465788	A	G	A48465788G	FBN1	NM_000138.5(FBN1):c.4816+2T>C	noncoding	Pathogenic
15	48465789	C	A	C48465789A	FBN1	NM_000138.4(FBN1):c.4816+1G>T	noncoding	Pathogenic
15	48465820	G	A	G48465820A	FBN1	NM_000138.5(FBN1):c.4786C>T:p.Arg1596Ter	coding	Pathogenic
15	48465869	A	G	A48465869G	FBN1	NM_000138.4(FBN1):c.4748-11T>C	noncoding	Benign
15	48467956	A	C	A48467956C	FBN1	NM_000138.4(FBN1):c.4729T>G:p.Cys1577Gly	coding	Pathogenic
15	48467975	C	A	C48467975A	FBN1	NM_000138.4(FBN1):c.4710G>T:p.Trp1570Cys	coding	Pathogenic
15	48467975	C	G	C48467975G	FBN1	NM_000138.4(FBN1):c.4710G>C:p.Trp1570Cys	coding	Pathogenic
15	48467994	C	G	C48467994G	FBN1	NM_000138.4(FBN1):c.4691G>C:p.Cys1564Ser	coding	Pathogenic
15	48467994	C	T	C48467994T	FBN1	NM_000138.4(FBN1):c.4691G>A:p.Cys1564Tyr	coding	Pathogenic
15	48467996	G	C	G48467996C	FBN1	NM_000138.5(FBN1):c.4689C>G:p.Cys1563Trp	coding	Pathogenic
15	48467997	C	T	C48467997T	FBN1	NM_000138.5(FBN1):c.4688G>A:p.Cys1563Tyr	coding	Pathogenic
15	48468002	G	A	G48468002A	FBN1	NM_000138.5(FBN1):c.4683C>T:p.Ser1561=	coding	Benign/Likely_benign
15	48468020	A	G	A48468020G	FBN1	NM_000138.5(FBN1):c.4665T>C:p.Val1555=	coding	Benign
15	48468025	C	A	C48468025A	FBN1	NM_000138.5(FBN1):c.4660G>T:p.Gly1554Ter	coding	Pathogenic
15	48468064	G	A	G48468064A	FBN1	NM_000138.4(FBN1):c.4621C>T:p.Arg1541Ter	coding	Pathogenic
15	48468070	G	A	G48468070A	FBN1	NM_000138.5(FBN1):c.4615C>T:p.Arg1539Ter	coding	Pathogenic
15	48468097	G	A	G48468097A	FBN1	NM_000138.5(FBN1):c.4588C>T:p.Arg1530Cys	coding	Pathogenic/Likely_pathogenic
15	48468410	A	C	A48468410C	FBN1	NM_000138.4(FBN1):c.4582+2T>G	noncoding	Pathogenic
15	48468411	C	A	C48468411A	FBN1	NM_000138.4(FBN1):c.4582+1G>T	noncoding	Pathogenic
15	48468411	C	T	C48468411T	FBN1	NM_000138.5(FBN1):c.4582+1G>A	noncoding	Pathogenic
15	48468427	G	A	G48468427A	FBN1	NM_000138.5(FBN1):c.4567C>T:p.Arg1523Ter	coding	Pathogenic/Likely_pathogenic
15	48468462	C	T	C48468462T	FBN1	NM_000138.4(FBN1):c.4532G>A:p.Cys1511Tyr	coding	Pathogenic/Likely_pathogenic
15	48468463	A	G	A48468463G	FBN1	NM_000138.5(FBN1):c.4531T>C:p.Cys1511Arg	coding	Pathogenic/Likely_pathogenic
15	48468489	C	T	C48468489T	FBN1	NM_000138.5(FBN1):c.4505G>A:p.Cys1502Tyr	coding	Pathogenic/Likely_pathogenic
15	48468504	C	G	C48468504G	FBN1	NM_000138.4(FBN1):c.4490G>C:p.Cys1497Ser	coding	Pathogenic
15	48468504	C	T	C48468504T	FBN1	NM_000138.4(FBN1):c.4490G>A:p.Cys1497Tyr	coding	Pathogenic
15	48468521	G	C	G48468521C	FBN1	NM_000138.5(FBN1):c.4473C>G:p.Cys1491Trp	coding	Pathogenic
15	48468526	C	A	C48468526A	FBN1	NM_000138.4(FBN1):c.4468G>T:p.Glu1490Ter	coding	Pathogenic
15	48468534	T	C	T48468534C	FBN1	NM_000138.4(FBN1):c.4460A>G:p.Asp1487Gly	coding	Pathogenic
15	48468542	C	T	C48468542T	FBN1	NM_000138.4(FBN1):c.4460-8G>A	noncoding	Pathogenic/Likely_pathogenic
15	48468553	T	C	T48468553C	FBN1	NM_000138.4(FBN1):c.4460-19A>G	noncoding	Benign
15	48470640	A	G	A48470640G	FBN1	NM_000138.4(FBN1):c.4453T>C:p.Cys1485Arg	coding	Pathogenic
15	48470664	C	A	C48470664A	FBN1	NM_000138.4(FBN1):c.4429G>T:p.Glu1477Ter	coding	Pathogenic
15	48470726	C	G	C48470726G	FBN1	NM_000138.5(FBN1):c.4367G>C:p.Cys1456Ser	coding	Pathogenic
15	48470744	C	T	C48470744T	FBN1	NM_000138.4(FBN1):c.4349G>A:p.Cys1450Tyr	coding	Pathogenic
15	48470745	A	G	A48470745G	FBN1	NM_000138.4(FBN1):c.4348T>C:p.Cys1450Arg	coding	Pathogenic
15	48470757	C	A	C48470757A	FBN1	NM_000138.4(FBN1):c.4337-1G>T	coding	Pathogenic/Likely_pathogenic
15	48470757	C	T	C48470757T	FBN1	NM_000138.4(FBN1):c.4337-1G>A	coding	Pathogenic
15	48470758	T	A	T48470758A	FBN1	NM_000138.4(FBN1):c.4337-2A>T	noncoding	Pathogenic
15	48470758	T	C	T48470758C	FBN1	NM_000138.4(FBN1):c.4337-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	48472594	G	C	G48472594C	FBN1	NM_000138.4(FBN1):c.4293C>G:p.Cys1431Trp	coding	Pathogenic
15	48472594	G	T	G48472594T	FBN1	NM_000138.4(FBN1):c.4293C>A:p.Cys1431Ter	coding	Pathogenic
15	48472595	C	T	C48472595T	FBN1	NM_000138.4(FBN1):c.4292G>A:p.Cys1431Tyr	coding	Pathogenic
15	48472600	A	C	A48472600C	FBN1	NM_000138.4(FBN1):c.4287T>G:p.Cys1429Trp	coding	Pathogenic
15	48472601	C	T	C48472601T	FBN1	NM_000138.4(FBN1):c.4286G>A:p.Cys1429Tyr	coding	Pathogenic
15	48472602	A	T	A48472602T	FBN1	NM_000138.4(FBN1):c.4285T>A:p.Cys1429Ser	coding	Pathogenic
15	48472628	C	T	C48472628T	FBN1	NM_000138.5(FBN1):c.4259G>A:p.Cys1420Tyr	coding	Pathogenic/Likely_pathogenic
15	48472663	G	T	G48472663T	FBN1	NM_000138.4(FBN1):c.4224C>A:p.Cys1408Ter	coding	Pathogenic
15	48472665	A	G	A48472665G	FBN1	NM_000138.5(FBN1):c.4222T>C:p.Cys1408Arg	coding	Pathogenic
15	48472668	C	A	C48472668A	FBN1	NM_000138.5(FBN1):c.4219G>T:p.Glu1407Ter	coding	Pathogenic
15	48472836	A	C	A48472836C	FBN1	NM_000138.4(FBN1):c.4211-160T>G	noncoding	Benign
15	48472847	T	G	T48472847G	FBN1	NM_000138.4(FBN1):c.4211-171A>C	noncoding	Benign
15	48474245	G	A	G48474245A	FBN1	NM_000138.4(FBN1):c.4210+10C>T	noncoding	Benign/Likely_benign
15	48474254	C	T	C48474254T	FBN1	NM_000138.4(FBN1):c.4210+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48474260	C	T	C48474260T	FBN1	NM_000138.4(FBN1):c.4205G>A:p.Cys1402Tyr	coding	Pathogenic
15	48474289	C	T	C48474289T	FBN1	NM_000138.5(FBN1):c.4176G>A:p.Lys1392=	coding	Benign
15	48474299	C	G	C48474299G	FBN1	NM_000138.4(FBN1):c.4166G>C:p.Cys1389Ser	coding	Pathogenic
15	48474366	A	G	A48474366G	FBN1	NM_000138.4(FBN1):c.4099T>C:p.Cys1367Arg	coding	Pathogenic
15	48474369	C	T	C48474369T	FBN1	NM_000138.4(FBN1):c.4096G>A:p.Glu1366Lys	coding	Pathogenic/Likely_pathogenic
15	48474379	T	G	T48474379G	FBN1	NM_000138.4(FBN1):c.4088-2A>C	noncoding	Pathogenic
15	48474527	C	T	C48474527T	FBN1	NM_000138.4(FBN1):c.4087+1G>A	noncoding	Pathogenic
15	48474533	C	T	C48474533T	FBN1	NM_000138.4(FBN1):c.4082G>A:p.Cys1361Tyr	coding	Pathogenic
15	48474553	C	T	C48474553T	FBN1	NM_000138.4(FBN1):c.4062G>A:p.Trp1354Ter	coding	Pathogenic
15	48474554	C	T	C48474554T	FBN1	NM_000138.4(FBN1):c.4061G>A:p.Trp1354Ter	coding	Pathogenic
15	48474565	G	T	G48474565T	FBN1	NM_000138.4(FBN1):c.4050C>A:p.Cys1350Ter	coding	Pathogenic
15	48474566	C	T	C48474566T	FBN1	NM_000138.4(FBN1):c.4049G>A:p.Cys1350Tyr	coding	Pathogenic
15	48474572	C	T	C48474572T	FBN1	NM_000138.4(FBN1):c.4043G>A:p.Cys1348Tyr	coding	Pathogenic/Likely_pathogenic
15	48474579	A	C	A48474579C	FBN1	NM_000138.4(FBN1):c.4036T>G:p.Phe1346Val	coding	Pathogenic
15	48474599	C	T	C48474599T	FBN1	NM_000138.4(FBN1):c.4016G>A:p.Cys1339Tyr	coding	Pathogenic
15	48474638	C	T	C48474638T	FBN1	NM_000138.4(FBN1):c.3977G>A:p.Cys1326Tyr	coding	Pathogenic/Likely_pathogenic
15	48474646	G	A	G48474646A	FBN1	NM_000138.4(FBN1):c.3969C>T:p.Ile1323=	coding	Benign/Likely_benign
15	48474652	T	A	T48474652A	FBN1	NM_000138.4(FBN1):c.3965-2A>T	noncoding	Pathogenic
15	48474658	A	G	A48474658G	FBN1	NM_000138.5(FBN1):c.3965-8T>C	noncoding	Benign/Likely_benign
15	48481654	C	T	C48481654T	FBN1	NM_000138.4(FBN1):c.3964+1G>A	noncoding	Pathogenic
15	48481660	C	G	C48481660G	FBN1	NM_000138.4(FBN1):c.3959G>C:p.Cys1320Ser	coding	Pathogenic
15	48481661	A	G	A48481661G	FBN1	NM_000138.4(FBN1):c.3958T>C:p.Cys1320Arg	coding	Pathogenic
15	48481723	G	A	G48481723A	FBN1	NM_000138.4(FBN1):c.3896C>T:p.Thr1299Met	coding	Benign/Likely_benign
15	48481768	C	T	C48481768T	FBN1	NM_000138.4(FBN1):c.3851G>A:p.Cys1284Tyr	coding	Pathogenic/Likely_pathogenic
15	48481769	A	G	A48481769G	FBN1	NM_000138.5(FBN1):c.3850T>C:p.Cys1284Arg	coding	Pathogenic
15	48481781	C	A	C48481781A	FBN1	NM_000138.4(FBN1):c.3839-1G>T	coding	Pathogenic
15	48482091	A	G	A48482091G	FBN1	NM_000138.4(FBN1):c.3839-311T>C	noncoding	Benign
15	48483822	A	C	A48483822C	FBN1	NM_000138.4(FBN1):c.3834T>G:p.Cys1278Trp	coding	Pathogenic
15	48483861	A	T	A48483861T	FBN1	NM_000138.4(FBN1):c.3795T>A:p.Cys1265Ter	coding	Pathogenic
15	48483863	A	G	A48483863G	FBN1	NM_000138.4(FBN1):c.3793T>C:p.Cys1265Arg	coding	Pathogenic
15	48483878	C	A	C48483878A	FBN1	NM_000138.4(FBN1):c.3778G>T:p.Glu1260Ter	coding	Pathogenic
15	48483899	G	A	G48483899A	FBN1	NM_000138.4(FBN1):c.3757C>T:p.Gln1253Ter	coding	Pathogenic
15	48483910	C	G	C48483910G	FBN1	NM_000138.4(FBN1):c.3746G>C:p.Cys1249Ser	coding	Pathogenic
15	48483931	C	T	C48483931T	FBN1	NM_000138.4(FBN1):c.3725G>A:p.Cys1242Tyr	coding	Pathogenic
15	48483945	T	A	T48483945A	FBN1	NM_000138.4(FBN1):c.3713-2A>T	noncoding	Pathogenic
15	48485373	C	T	C48485373T	FBN1	NM_000138.4(FBN1):c.3712+1G>A	noncoding	Pathogenic
15	48485383	A	G	A48485383G	FBN1	NM_000138.4(FBN1):c.3703T>C:p.Ser1235Pro	coding	Pathogenic
15	48485411	C	T	C48485411T	FBN1	NM_000138.5(FBN1):c.3675G>A:p.Pro1225=	coding	Benign/Likely_benign
15	48485417	A	T	A48485417T	FBN1	NM_000138.4(FBN1):c.3669T>A:p.Cys1223Ter	coding	Pathogenic
15	48485418	C	T	C48485418T	FBN1	NM_000138.4(FBN1):c.3668G>A:p.Cys1223Tyr	coding	Pathogenic
15	48485424	C	T	C48485424T	FBN1	NM_000138.4(FBN1):c.3662G>A:p.Cys1221Tyr	coding	Pathogenic
15	48485462	A	T	A48485462T	FBN1	NM_000138.4(FBN1):c.3624T>A:p.Cys1208Ter	coding	Pathogenic
15	48485463	C	A	C48485463A	FBN1	NM_000138.4(FBN1):c.3623G>T:p.Cys1208Phe	coding	Pathogenic
15	48487074	C	A	C48487074A	FBN1	NM_000138.4(FBN1):c.3589+1G>T	noncoding	Pathogenic
15	48487101	G	T	G48487101T	FBN1	NM_000138.4(FBN1):c.3563C>A:p.Ser1188Ter	coding	Pathogenic
15	48487118	G	T	G48487118T	FBN1	NM_000138.5(FBN1):c.3546C>A:p.Cys1182Ter	coding	Pathogenic
15	48487119	C	T	C48487119T	FBN1	NM_000138.5(FBN1):c.3545G>A:p.Cys1182Tyr	coding	Pathogenic
15	48487125	C	T	C48487125T	FBN1	NM_000138.4(FBN1):c.3539G>A:p.Cys1180Tyr	coding	Pathogenic
15	48487129	G	A	G48487129A	FBN1	NM_000138.5(FBN1):c.3535C>T:p.Gln1179Ter	coding	Pathogenic
15	48487146	T	A	T48487146A	FBN1	NM_000138.4(FBN1):c.3518A>T:p.Asn1173Ile	coding	Pathogenic
15	48487151	G	T	G48487151T	FBN1	NM_000138.4(FBN1):c.3513C>A:p.Cys1171Ter	coding	Pathogenic
15	48487205	C	T	C48487205T	FBN1	NM_000138.5(FBN1):c.3464-5G>A	noncoding	Benign
15	48487309	T	C	T48487309C	FBN1	NM_000138.5(FBN1):c.3463+3A>G	noncoding	Benign/Likely_benign
15	48487311	C	A	C48487311A	FBN1	NM_000138.5(FBN1):c.3463+1G>T	noncoding	Pathogenic
15	48487311	C	T	C48487311T	FBN1	NM_000138.5(FBN1):c.3463+1G>A	noncoding	Pathogenic
15	48487312	C	T	C48487312T	FBN1	NM_000138.4(FBN1):c.3463G>A:p.Asp1155Asn	coding	Pathogenic/Likely_pathogenic
15	48487317	C	T	C48487317T	FBN1	NM_000138.4(FBN1):c.3458G>A:p.Cys1153Tyr	coding	Pathogenic
15	48487333	G	C	G48487333C	FBN1	NM_000138.5(FBN1):c.3442C>G:p.Pro1148Ala	coding	Benign
15	48487363	A	G	A48487363G	FBN1	NM_000138.4(FBN1):c.3412T>C:p.Cys1138Arg	coding	Pathogenic
15	48487365	C	G	C48487365G	FBN1	NM_000138.4(FBN1):c.3410G>C:p.Arg1137Pro	coding	Pathogenic
15	48487367	G	T	G48487367T	FBN1	NM_000138.4(FBN1):c.3408C>A:p.Tyr1136Ter	coding	Pathogenic
15	48487375	C	A	C48487375A	FBN1	NM_000138.4(FBN1):c.3400G>T:p.Gly1134Ter	coding	Pathogenic
15	48487384	T	A	T48487384A	FBN1	NM_000138.4(FBN1):c.3391A>T:p.Asn1131Tyr	coding	Pathogenic
15	48487389	C	T	C48487389T	FBN1	NM_000138.4(FBN1):c.3386G>A:p.Cys1129Tyr	coding	Pathogenic
15	48487402	G	A	G48487402A	FBN1	NM_000138.5(FBN1):c.3373C>T:p.Arg1125Ter	coding	Pathogenic/Likely_pathogenic
15	48487425	C	T	C48487425T	FBN1	NM_000138.4(FBN1):c.3350G>A:p.Cys1117Tyr	coding	Pathogenic
15	48487431	T	C	T48487431C	FBN1	NM_000138.4(FBN1):c.3344A>G:p.Asp1115Gly	coding	Pathogenic/Likely_pathogenic
15	48487437	T	C	T48487437C	FBN1	NM_000138.4(FBN1):c.3338A>G:p.Asp1113Gly	coding	Pathogenic
15	48488112	C	A	C48488112A	FBN1	NM_000138.4(FBN1):c.3337+1G>T	noncoding	Pathogenic
15	48488112	C	T	C48488112T	FBN1	NM_000138.5(FBN1):c.3337+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48488118	C	T	C48488118T	FBN1	NM_000138.4(FBN1):c.3332G>A:p.Cys1111Tyr	coding	Pathogenic
15	48488147	A	T	A48488147T	FBN1	NM_000138.4(FBN1):c.3303T>A:p.Tyr1101Ter	coding	Pathogenic
15	48488148	T	C	T48488148C	FBN1	NM_000138.4(FBN1):c.3302A>G:p.Tyr1101Cys	coding	Pathogenic
15	48488156	G	A	G48488156A	FBN1	NM_000138.5(FBN1):c.3294C>T:p.Asp1098=	coding	Benign/Likely_benign
15	48488166	C	G	C48488166G	FBN1	NM_000138.4(FBN1):c.3284G>C:p.Cys1095Ser	coding	Pathogenic
15	48488193	C	T	C48488193T	FBN1	NM_000138.4(FBN1):c.3257G>A:p.Cys1086Tyr	coding	Pathogenic
15	48488194	A	C	A48488194C	FBN1	NM_000138.5(FBN1):c.3256T>G:p.Cys1086Gly	coding	Pathogenic
15	48488194	A	G	A48488194G	FBN1	NM_000138.4(FBN1):c.3256T>C:p.Cys1086Arg	coding	Pathogenic
15	48488197	G	A	G48488197A	FBN1	NM_000138.4(FBN1):c.3253C>T:p.Gln1085Ter	coding	Pathogenic
15	48488228	G	T	G48488228T	FBN1	NM_000138.5(FBN1):c.3222C>A:p.Cys1074Ter	coding	Pathogenic
15	48488229	C	T	C48488229T	FBN1	NM_000138.4(FBN1):c.3221G>A:p.Cys1074Tyr	coding	Pathogenic
15	48488230	A	G	A48488230G	FBN1	NM_000138.4(FBN1):c.3220T>C:p.Cys1074Arg	coding	Pathogenic
15	48488233	C	A	C48488233A	FBN1	NM_000138.5(FBN1):c.3217G>T:p.Glu1073Ter	coding	Pathogenic
15	48488233	C	T	C48488233T	FBN1	NM_000138.4(FBN1):c.3217G>A:p.Glu1073Lys	coding	Pathogenic
15	48488242	C	G	C48488242G	FBN1	NM_000138.4(FBN1):c.3209-1G>C	coding	Pathogenic
15	48488374	A	G	A48488374G	FBN1	NM_000138.4(FBN1):c.3202T>C:p.Cys1068Arg	coding	Pathogenic
15	48488403	C	A	C48488403A	FBN1	NM_000138.4(FBN1):c.3173G>T:p.Gly1058Val	coding	Pathogenic
15	48488403	C	T	C48488403T	FBN1	NM_000138.4(FBN1):c.3173G>A:p.Gly1058Asp	coding	Pathogenic
15	48488411	A	T	A48488411T	FBN1	NM_000138.4(FBN1):c.3165T>A:p.Cys1055Ter	coding	Pathogenic
15	48488412	C	T	C48488412T	FBN1	NM_000138.5(FBN1):c.3164G>A:p.Cys1055Tyr	coding	Pathogenic
15	48488417	G	C	G48488417C	FBN1	NM_000138.5(FBN1):c.3159C>G:p.Cys1053Trp	coding	Pathogenic
15	48488417	G	T	G48488417T	FBN1	NM_000138.4(FBN1):c.3159C>A:p.Cys1053Ter	coding	Pathogenic
15	48488418	C	T	C48488418T	FBN1	NM_000138.5(FBN1):c.3158G>A:p.Cys1053Tyr	coding	Pathogenic
15	48488433	A	G	A48488433G	FBN1	NM_000138.4(FBN1):c.3143T>C:p.Ile1048Thr	coding	Pathogenic
15	48488444	G	T	G48488444T	FBN1	NM_000138.4(FBN1):c.3132C>A:p.Cys1044Ter	coding	Pathogenic
15	48488448	T	C	T48488448C	FBN1	NM_000138.4(FBN1):c.3128A>G:p.Lys1043Arg	coding	Pathogenic
15	48488480	G	T	G48488480T	FBN1	NM_000138.4(FBN1):c.3096C>A:p.Cys1032Ter	coding	Pathogenic
15	48488481	C	T	C48488481T	FBN1	NM_000138.4(FBN1):c.3095G>A:p.Cys1032Tyr	coding	Pathogenic
15	48488485	C	A	C48488485A	FBN1	NM_000138.5(FBN1):c.3091G>T:p.Glu1031Ter	coding	Pathogenic
15	48488485	C	T	C48488485T	FBN1	NM_000138.4(FBN1):c.3091G>A:p.Glu1031Lys	coding	Pathogenic
15	48488495	T	C	T48488495C	FBN1	NM_000138.5(FBN1):c.3083-2A>G	noncoding	Pathogenic
15	48488495	T	G	T48488495G	FBN1	NM_000138.5(FBN1):c.3083-2A>C	noncoding	Pathogenic
15	48489845	T	C	T48489845C	FBN1	NM_000138.5(FBN1):c.3082+6A>G	noncoding	Benign
15	48489850	C	G	C48489850G	FBN1	NM_000138.4(FBN1):c.3082+1G>C	noncoding	Pathogenic
15	48489856	A	G	A48489856G	FBN1	NM_000138.4(FBN1):c.3077T>C:p.Phe1026Ser	coding	Benign/Likely_benign
15	48489864	C	T	C48489864T	FBN1	NM_000138.4(FBN1):c.3069G>A:p.Lys1023=	coding	Benign/Likely_benign
15	48489881	C	A	C48489881A	FBN1	NM_000138.4(FBN1):c.3052G>T:p.Glu1018Ter	coding	Pathogenic
15	48489896	C	G	C48489896G	FBN1	NM_000138.4(FBN1):c.3037G>C:p.Gly1013Arg	coding	Pathogenic
15	48489896	C	T	C48489896T	FBN1	NM_000138.5(FBN1):c.3037G>A:p.Gly1013Arg	coding	Pathogenic
15	48489920	C	A	C48489920A	FBN1	NM_000138.4(FBN1):c.3013G>T:p.Glu1005Ter	coding	Pathogenic
15	48489921	G	C	G48489921C	FBN1	NM_000138.5(FBN1):c.3012C>G:p.Tyr1004Ter	coding	Pathogenic/Likely_pathogenic
15	48489921	G	T	G48489921T	FBN1	NM_000138.4(FBN1):c.3012C>A:p.Tyr1004Ter	coding	Pathogenic
15	48489979	C	T	C48489979T	FBN1	NM_000138.4(FBN1):c.2954G>A:p.Gly985Glu	coding	Pathogenic
15	48489980	C	T	C48489980T	FBN1	NM_000138.4(FBN1):c.2953G>A:p.Gly985Arg	coding	Pathogenic/Likely_pathogenic
15	48489988	C	G	C48489988G	FBN1	NM_000138.4(FBN1):c.2945G>C:p.Cys982Ser	coding	Pathogenic/Likely_pathogenic
15	48490013	G	A	G48490013A	FBN1	NM_000138.4(FBN1):c.2920C>T:p.Arg974Cys	coding	Pathogenic/Likely_pathogenic
15	48490032	G	A	G48490032A	FBN1	NM_000138.5(FBN1):c.2901C>T:p.Cys967=	coding	Benign/Likely_benign
15	48490037	C	A	C48490037A	FBN1	NM_000138.4(FBN1):c.2896G>T:p.Glu966Ter	coding	Pathogenic
15	48490041	G	A	G48490041A	FBN1	NM_000138.4(FBN1):c.2892C>T:p.Asp964=	coding	Benign/Likely_benign
15	48490047	G	T	G48490047T	FBN1	NM_000138.4(FBN1):c.2886C>A:p.Tyr962Ter	coding	Pathogenic
15	48490073	G	A	G48490073A	FBN1	NM_000138.4(FBN1):c.2860C>T:p.Arg954Cys	coding	Pathogenic
15	48490079	C	T	C48490079T	FBN1	NM_000138.5(FBN1):c.2855-1G>A	coding	Pathogenic
15	48490087	G	A	G48490087A	FBN1	NM_000138.5(FBN1):c.2855-9C>T	noncoding	Benign/Likely_benign
15	48490107	T	C	T48490107C	FBN1	NM_000138.4(FBN1):c.2855-29A>G	noncoding	Benign
15	48490366	T	C	T48490366C	FBN1	NM_000138.4(FBN1):c.2855-288A>G	noncoding	Benign
15	48492460	C	A	C48492460A	FBN1	NM_000138.4(FBN1):c.2854+1G>T	noncoding	Pathogenic
15	48492466	C	A	C48492466A	FBN1	NM_000138.4(FBN1):c.2849G>T:p.Cys950Phe	coding	Pathogenic
15	48492466	C	G	C48492466G	FBN1	NM_000138.4(FBN1):c.2849G>C:p.Cys950Ser	coding	Pathogenic
15	48492505	C	T	C48492505T	FBN1	NM_000138.4(FBN1):c.2810G>A:p.Cys937Tyr	coding	Pathogenic
15	48492509	G	A	G48492509A	FBN1	NM_000138.4(FBN1):c.2806C>T:p.Gln936Ter	coding	Pathogenic
15	48492538	C	T	C48492538T	FBN1	NM_000138.4(FBN1):c.2777G>A:p.Cys926Tyr	coding	Pathogenic
15	48492554	A	G	A48492554G	FBN1	NM_000138.4(FBN1):c.2761T>C:p.Cys921Arg	coding	Pathogenic
15	48492578	C	A	C48492578A	FBN1	NM_000138.4(FBN1):c.2737G>T:p.Glu913Ter	coding	Pathogenic
15	48494203	C	G	C48494203G	FBN1	NM_000138.4(FBN1):c.2728+1G>C	noncoding	Pathogenic/Likely_pathogenic
15	48494209	C	T	C48494209T	FBN1	NM_000138.4(FBN1):c.2723G>A:p.Cys908Tyr	coding	Pathogenic
15	48494210	A	G	A48494210G	FBN1	NM_000138.4(FBN1):c.2722T>C:p.Cys908Arg	coding	Pathogenic
15	48494213	G	A	G48494213A	FBN1	NM_000138.4(FBN1):c.2719C>T:p.Gln907Ter	coding	Pathogenic
15	48494246	A	G	A48494246G	FBN1	NM_000138.5(FBN1):c.2686T>C:p.Cys896Arg	coding	Pathogenic
15	48494266	A	G	A48494266G	FBN1	NM_000138.4(FBN1):c.2678-12T>C	noncoding	Benign/Likely_benign
15	48494269	G	A	G48494269A	FBN1	NM_000138.5(FBN1):c.2678-15C>T	noncoding	Benign
15	48494269	G	T	G48494269T	FBN1	NM_000138.4(FBN1):c.2678-15C>A	noncoding	Pathogenic
15	48495129	G	A	G48495129A	FBN1	NM_000138.4(FBN1):c.2671C>T:p.Gln891Ter	coding	Pathogenic
15	48495131	C	T	C48495131T	FBN1	NM_000138.4(FBN1):c.2669G>A:p.Cys890Tyr	coding	Pathogenic/Likely_pathogenic
15	48495132	A	T	A48495132T	FBN1	NM_000138.4(FBN1):c.2668T>A:p.Cys890Ser	coding	Pathogenic
15	48495151	C	T	C48495151T	FBN1	NM_000138.4(FBN1):c.2649G>A:p.Trp883Ter	coding	Pathogenic
15	48495153	A	G	A48495153G	FBN1	NM_000138.4(FBN1):c.2647T>C:p.Trp883Arg	coding	Pathogenic
15	48495155	G	A	G48495155A	FBN1	NM_000138.4(FBN1):c.2645C>T:p.Ala882Val	coding	Pathogenic/Likely_pathogenic
15	48495162	C	G	C48495162G	FBN1	NM_000138.4(FBN1):c.2638G>C:p.Gly880Arg	coding	Pathogenic
15	48495162	C	T	C48495162T	FBN1	NM_000138.4(FBN1):c.2638G>A:p.Gly880Ser	coding	Pathogenic/Likely_pathogenic
15	48495173	C	T	C48495173T	FBN1	NM_000138.4(FBN1):c.2627G>A:p.Cys876Tyr	coding	Pathogenic/Likely_pathogenic
15	48495174	A	G	A48495174G	FBN1	NM_000138.4(FBN1):c.2626T>C:p.Cys876Arg	coding	Pathogenic
15	48495177	A	T	A48495177T	FBN1	NM_000138.4(FBN1):c.2623T>A:p.Cys875Ser	coding	Pathogenic
15	48495187	T	G	T48495187G	FBN1	NM_000138.4(FBN1):c.2613A>C:p.Leu871Phe	coding	Pathogenic
15	48495216	A	G	A48495216G	FBN1	NM_000138.5(FBN1):c.2584T>C:p.Cys862Arg	coding	Pathogenic
15	48495219	G	A	G48495219A	FBN1	NM_000138.4(FBN1):c.2581C>T:p.Arg861Ter	coding	Pathogenic
15	48495237	G	A	G48495237A	FBN1	NM_000138.4(FBN1):c.2563C>T:p.Gln855Ter	coding	Pathogenic
15	48495238	C	T	C48495238T	FBN1	NM_000138.4(FBN1):c.2562G>A:p.Trp854Ter	coding	Pathogenic
15	48495239	C	T	C48495239T	FBN1	NM_000138.4(FBN1):c.2561G>A:p.Trp854Ter	coding	Pathogenic
15	48495241	G	T	G48495241T	FBN1	NM_000138.5(FBN1):c.2559C>A:p.Cys853Ter	coding	Pathogenic
15	48495243	A	G	A48495243G	FBN1	NM_000138.4(FBN1):c.2557T>C:p.Cys853Arg	coding	Pathogenic
15	48495467	A	C	A48495467C	FBN1	NM_000138.4(FBN1):c.2539+2T>G	noncoding	Pathogenic
15	48495468	C	G	C48495468G	FBN1	NM_000138.5(FBN1):c.2539+1G>C	noncoding	Pathogenic
15	48495468	C	T	C48495468T	FBN1	NM_000138.4(FBN1):c.2539+1G>A	noncoding	Pathogenic
15	48495484	T	A	T48495484A	FBN1	NM_000138.4(FBN1):c.2524A>T:p.Lys842Ter	coding	Pathogenic
15	48495513	C	A	C48495513A	FBN1	NM_000138.5(FBN1):c.2495G>T:p.Cys832Phe	coding	Pathogenic
15	48495513	C	G	C48495513G	FBN1	NM_000138.4(FBN1):c.2495G>C:p.Cys832Ser	coding	Pathogenic
15	48495513	C	T	C48495513T	FBN1	NM_000138.5(FBN1):c.2495G>A:p.Cys832Tyr	coding	Pathogenic/Likely_pathogenic
15	48495519	C	G	C48495519G	FBN1	NM_000138.5(FBN1):c.2489G>C:p.Cys830Ser	coding	Pathogenic/Likely_pathogenic
15	48495519	C	T	C48495519T	FBN1	NM_000138.4(FBN1):c.2489G>A:p.Cys830Tyr	coding	Pathogenic
15	48495546	C	T	C48495546T	FBN1	NM_000138.5(FBN1):c.2462G>A:p.Cys821Tyr	coding	Pathogenic
15	48495562	A	G	A48495562G	FBN1	NM_000138.4(FBN1):c.2446T>C:p.Cys816Arg	coding	Pathogenic
15	48495570	G	C	G48495570C	FBN1	NM_000138.4(FBN1):c.2438C>G:p.Ser813Ter	coding	Pathogenic
15	48495574	C	A	C48495574A	FBN1	NM_000138.4(FBN1):c.2434G>T:p.Glu812Ter	coding	Pathogenic
15	48495575	G	C	G48495575C	FBN1	NM_000138.4(FBN1):c.2433C>G:p.Cys811Trp	coding	Pathogenic
15	48495575	G	T	G48495575T	FBN1	NM_000138.4(FBN1):c.2433C>A:p.Cys811Ter	coding	Pathogenic
15	48495596	A	G	A48495596G	FBN1	NM_000138.4(FBN1):c.2420-8T>C	noncoding	Benign/Likely_benign
15	48496098	A	C	A48496098C	FBN1	NM_000138.4(FBN1):c.2419+2T>G	noncoding	Pathogenic
15	48496104	A	C	A48496104C	FBN1	NM_000138.4(FBN1):c.2415T>G:p.Cys805Trp	coding	Pathogenic
15	48496105	C	T	C48496105T	FBN1	NM_000138.4(FBN1):c.2414G>A:p.Cys805Tyr	coding	Pathogenic
15	48496106	A	G	A48496106G	FBN1	NM_000138.5(FBN1):c.2413T>C:p.Cys805Arg	coding	Pathogenic
15	48496112	T	A	T48496112A	FBN1	NM_000138.5(FBN1):c.2407A>T:p.Lys803Ter	coding	Pathogenic
15	48496144	C	T	C48496144T	FBN1	NM_000138.5(FBN1):c.2375G>A:p.Cys792Tyr	coding	Pathogenic
15	48496150	C	A	C48496150A	FBN1	NM_000138.4(FBN1):c.2369G>T:p.Cys790Phe	coding	Pathogenic
15	48496150	C	T	C48496150T	FBN1	NM_000138.4(FBN1):c.2369G>A:p.Cys790Tyr	coding	Pathogenic
15	48496177	C	T	C48496177T	FBN1	NM_000138.4(FBN1):c.2342G>A:p.Cys781Tyr	coding	Pathogenic
15	48496178	A	G	A48496178G	FBN1	NM_000138.5(FBN1):c.2341T>C:p.Cys781Arg	coding	Pathogenic
15	48496178	A	T	A48496178T	FBN1	NM_000138.4(FBN1):c.2341T>A:p.Cys781Ser	coding	Pathogenic
15	48496192	C	T	C48496192T	FBN1	NM_000138.4(FBN1):c.2327G>A:p.Cys776Tyr	coding	Pathogenic
15	48496213	C	T	C48496213T	FBN1	NM_000138.4(FBN1):c.2306G>A:p.Cys769Tyr	coding	Pathogenic/Likely_pathogenic
15	48496214	A	G	A48496214G	FBN1	NM_000138.4(FBN1):c.2305T>C:p.Cys769Arg	coding	Pathogenic
15	48496226	C	A	C48496226A	FBN1	NM_000138.4(FBN1):c.2294-1G>T	coding	Pathogenic
15	48497298	T	C	T48497298C	FBN1	NM_000138.4(FBN1):c.2261A>G:p.Tyr754Cys	coding	Pathogenic
15	48497310	C	T	C48497310T	FBN1	NM_000138.5(FBN1):c.2249G>A:p.Cys750Tyr	coding	Pathogenic
15	48497311	A	G	A48497311G	FBN1	NM_000138.4(FBN1):c.2248T>C:p.Cys750Arg	coding	Pathogenic
15	48497316	C	T	C48497316T	FBN1	NM_000138.4(FBN1):c.2243G>A:p.Cys748Tyr	coding	Pathogenic/Likely_pathogenic
15	48497317	A	G	A48497317G	FBN1	NM_000138.5(FBN1):c.2242T>C:p.Cys748Arg	coding	Pathogenic/Likely_pathogenic
15	48497342	A	C	A48497342C	FBN1	NM_000138.4(FBN1):c.2217T>G:p.Cys739Trp	coding	Pathogenic
15	48497343	C	T	C48497343T	FBN1	NM_000138.4(FBN1):c.2216G>A:p.Cys739Tyr	coding	Pathogenic
15	48497358	C	A	C48497358A	FBN1	NM_000138.4(FBN1):c.2201G>T:p.Cys734Phe	coding	Pathogenic
15	48497379	C	T	C48497379T	FBN1	NM_000138.4(FBN1):c.2180G>A:p.Cys727Tyr	coding	Pathogenic/Likely_pathogenic
15	48497380	A	G	A48497380G	FBN1	NM_000138.4(FBN1):c.2179T>C:p.Cys727Arg	coding	Pathogenic
15	48497391	T	G	T48497391G	FBN1	NM_000138.4(FBN1):c.2168A>C:p.Asp723Ala	coding	Pathogenic
15	48497392	C	A	C48497392A	FBN1	NM_000138.4(FBN1):c.2168-1G>T	coding	Pathogenic
15	48497392	C	G	C48497392G	FBN1	NM_000138.5(FBN1):c.2168-1G>C	coding	Pathogenic
15	48497393	T	C	T48497393C	FBN1	NM_000138.4(FBN1):c.2168-2A>G	noncoding	Pathogenic
15	48497437	T	C	T48497437C	FBN1	NM_000138.4(FBN1):c.2168-46A>G	noncoding	Benign
15	48497625	G	A	G48497625A	FBN1	NM_000138.4(FBN1):c.2168-234C>T	noncoding	Benign
15	48499039	C	G	C48499039G	FBN1	NM_000138.4(FBN1):c.2114-1G>C	coding	Pathogenic
15	48499040	T	G	T48499040G	FBN1	NM_000138.4(FBN1):c.2114-2A>C	noncoding	Pathogenic/Likely_pathogenic
15	48503786	C	A	C48503786A	FBN1	NM_000138.4(FBN1):c.2113+1G>T	noncoding	Pathogenic
15	48503786	C	G	C48503786G	FBN1	NM_000138.4(FBN1):c.2113+1G>C	noncoding	Pathogenic
15	48503786	C	T	C48503786T	FBN1	NM_000138.4(FBN1):c.2113+1G>A	noncoding	Pathogenic
15	48503787	C	T	C48503787T	FBN1	NM_000138.4(FBN1):c.2113G>A:p.Ala705Thr	coding	Pathogenic
15	48503789	G	C	G48503789C	FBN1	NM_000138.5(FBN1):c.2111C>G:p.Ser704Ter	coding	Pathogenic
15	48503811	G	A	G48503811A	FBN1	NM_000138.4(FBN1):c.2089C>T:p.Gln697Ter	coding	Pathogenic
15	48503820	C	A	C48503820A	FBN1	NM_000138.4(FBN1):c.2080G>T:p.Glu694Ter	coding	Pathogenic/Likely_pathogenic
15	48503845	G	A	G48503845A	FBN1	NM_000138.4(FBN1):c.2055C>T:p.Cys685=	coding	Benign
15	48503845	G	C	G48503845C	FBN1	NM_000138.5(FBN1):c.2055C>G:p.Cys685Trp	coding	Pathogenic
15	48503845	G	T	G48503845T	FBN1	NM_000138.4(FBN1):c.2055C>A:p.Cys685Ter	coding	Pathogenic
15	48503847	A	T	A48503847T	FBN1	NM_000138.4(FBN1):c.2053T>A:p.Cys685Ser	coding	Pathogenic
15	48503849	C	A	C48503849A	FBN1	NM_000138.4(FBN1):c.2051G>T:p.Cys684Phe	coding	Pathogenic/Likely_pathogenic
15	48503849	C	T	C48503849T	FBN1	NM_000138.5(FBN1):c.2051G>A:p.Cys684Tyr	coding	Pathogenic
15	48503901	T	A	T48503901A	FBN1	NM_000138.5(FBN1):c.1999A>T:p.Arg667Ter	coding	Pathogenic
15	48503908	T	A	T48503908A	FBN1	NM_000138.5(FBN1):c.1992A>T:p.Gly664=	coding	Benign
15	48503917	G	C	G48503917C	FBN1	NM_000138.4(FBN1):c.1983C>G:p.Cys661Trp	coding	Pathogenic
15	48503918	C	T	C48503918T	FBN1	NM_000138.4(FBN1):c.1982G>A:p.Cys661Tyr	coding	Pathogenic
15	48503940	C	T	C48503940T	FBN1	NM_000138.5(FBN1):c.1961-1G>A	coding	Pathogenic/Likely_pathogenic
15	48503941	T	C	T48503941C	FBN1	NM_000138.4(FBN1):c.1961-2A>G	noncoding	Pathogenic
15	48504949	C	T	C48504949T	FBN1	NM_000138.4(FBN1):c.1960+76G>A	noncoding	Benign
15	48504995	C	T	C48504995T	FBN1	NM_000138.4(FBN1):c.1960+30G>A	noncoding	Benign/Likely_benign
15	48505024	C	G	C48505024G	FBN1	NM_000138.4(FBN1):c.1960+1G>C	noncoding	Pathogenic
15	48505029	A	C	A48505029C	FBN1	NM_000138.4(FBN1):c.1956T>G:p.Cys652Trp	coding	Pathogenic
15	48505030	C	T	C48505030T	FBN1	NM_000138.5(FBN1):c.1955G>A:p.Cys652Tyr	coding	Pathogenic
15	48505031	A	G	A48505031G	FBN1	NM_000138.5(FBN1):c.1954T>C:p.Cys652Arg	coding	Pathogenic
15	48505037	G	A	G48505037A	FBN1	NM_000138.4(FBN1):c.1948C>T:p.Arg650Cys	coding	Pathogenic/Likely_pathogenic
15	48505070	A	G	A48505070G	FBN1	NM_000138.4(FBN1):c.1915T>C:p.Cys639Arg	coding	Pathogenic
15	48505070	A	T	A48505070T	FBN1	NM_000138.4(FBN1):c.1915T>A:p.Cys639Ser	coding	Pathogenic
15	48505081	T	C	T48505081C	FBN1	NM_000138.4(FBN1):c.1904A>G:p.Tyr635Cys	coding	Pathogenic/Likely_pathogenic
15	48505095	G	T	G48505095T	FBN1	NM_000138.4(FBN1):c.1890C>A:p.Asn630Lys	coding	Pathogenic
15	48505096	T	A	T48505096A	FBN1	NM_000138.4(FBN1):c.1889A>T:p.Asn630Ile	coding	Pathogenic
15	48505102	C	A	C48505102A	FBN1	NM_000138.4(FBN1):c.1883G>T:p.Cys628Phe	coding	Pathogenic
15	48505106	G	A	G48505106A	FBN1	NM_000138.5(FBN1):c.1879C>T:p.Arg627Cys	coding	Pathogenic
15	48505110	A	G	A48505110G	FBN1	NM_000138.5(FBN1):c.1875T>C:p.Asn625=	coding	Benign
15	48505136	A	G	A48505136G	FBN1	NM_000138.4(FBN1):c.1849T>C:p.Cys617Arg	coding	Pathogenic
15	48505153	G	A	G48505153A	FBN1	NM_000138.4(FBN1):c.1838-6C>T	noncoding	Benign/Likely_benign
15	48508577	C	T	C48508577T	FBN1	NM_000138.4(FBN1):c.1837+5G>A	noncoding	Pathogenic
15	48508580	A	G	A48508580G	FBN1	NM_000138.4(FBN1):c.1837+2T>C	noncoding	Pathogenic
15	48508581	C	T	C48508581T	FBN1	NM_000138.4(FBN1):c.1837+1G>A	noncoding	Pathogenic
15	48508602	G	T	G48508602T	FBN1	NM_000138.4(FBN1):c.1817C>A:p.Ser606Ter	coding	Pathogenic/Likely_pathogenic
15	48508612	G	A	G48508612A	FBN1	NM_000138.4(FBN1):c.1807C>T:p.Gln603Ter	coding	Pathogenic
15	48508618	C	A	C48508618A	FBN1	NM_000138.4(FBN1):c.1801G>T:p.Gly601Ter	coding	Pathogenic
15	48508625	G	C	G48508625C	FBN1	NM_000138.4(FBN1):c.1794C>G:p.Cys598Trp	coding	Pathogenic
15	48508626	C	A	C48508626A	FBN1	NM_000138.5(FBN1):c.1793G>T:p.Cys598Phe	coding	Pathogenic
15	48508626	C	G	C48508626G	FBN1	NM_000138.4(FBN1):c.1793G>C:p.Cys598Ser	coding	Pathogenic
15	48508633	A	C	A48508633C	FBN1	NM_000138.4(FBN1):c.1786T>G:p.Cys596Gly	coding	Pathogenic
15	48508659	C	T	C48508659T	FBN1	NM_000138.4(FBN1):c.1760G>A:p.Cys587Tyr	coding	Pathogenic
15	48508660	A	C	A48508660C	FBN1	NM_000138.4(FBN1):c.1759T>G:p.Cys587Gly	coding	Pathogenic
15	48508660	A	G	A48508660G	FBN1	NM_000138.5(FBN1):c.1759T>C:p.Cys587Arg	coding	Pathogenic
15	48508673	G	A	G48508673A	FBN1	NM_000138.5(FBN1):c.1746C>T:p.Cys582=	coding	Benign/Likely_benign
15	48508691	G	C	G48508691C	FBN1	NM_000138.5(FBN1):c.1728C>G:p.Cys576Trp	coding	Pathogenic
15	48508692	C	T	C48508692T	FBN1	NM_000138.4(FBN1):c.1727G>A:p.Cys576Tyr	coding	Pathogenic
15	48508693	A	C	A48508693C	FBN1	NM_000138.4(FBN1):c.1726T>G:p.Cys576Gly	coding	Pathogenic/Likely_pathogenic
15	48508705	C	T	C48508705T	FBN1	NM_000138.4(FBN1):c.1715-1G>A	coding	Pathogenic
15	48508990	T	C	T48508990C	FBN1	NM_000138.4(FBN1):c.1715-286A>G	noncoding	Benign
15	48509738	C	T	C48509738T	FBN1	NM_000138.4(FBN1):c.1714+306G>A	noncoding	Benign
15	48510048	A	C	A48510048C	FBN1	NM_000138.4(FBN1):c.1710T>G:p.Cys570Trp	coding	Pathogenic
15	48510049	C	T	C48510049T	FBN1	NM_000138.4(FBN1):c.1709G>A:p.Cys570Tyr	coding	Pathogenic
15	48510050	A	G	A48510050G	FBN1	NM_000138.5(FBN1):c.1708T>C:p.Cys570Arg	coding	Pathogenic
15	48510065	G	A	G48510065A	FBN1	NM_000138.4(FBN1):c.1693C>T:p.Arg565Ter	coding	Pathogenic
15	48510079	C	A	C48510079A	FBN1	NM_000138.5(FBN1):c.1679G>T:p.Gly560Val	coding	Pathogenic/Likely_pathogenic
15	48510088	C	T	C48510088T	FBN1	NM_000138.4(FBN1):c.1670G>A:p.Cys557Tyr	coding	Pathogenic/Likely_pathogenic
15	48510093	G	T	G48510093T	FBN1	NM_000138.5(FBN1):c.1665C>A:p.Cys555Ter	coding	Pathogenic
15	48510094	C	A	C48510094A	FBN1	NM_000138.4(FBN1):c.1664G>T:p.Cys555Phe	coding	Pathogenic
15	48510094	C	T	C48510094T	FBN1	NM_000138.4(FBN1):c.1664G>A:p.Cys555Tyr	coding	Pathogenic
15	48510115	T	A	T48510115A	FBN1	NM_000138.4(FBN1):c.1643A>T:p.Asn548Ile	coding	Pathogenic
15	48510125	G	A	G48510125A	FBN1	NM_000138.4(FBN1):c.1633C>T:p.Arg545Cys	coding	Pathogenic
15	48510136	C	T	C48510136T	FBN1	NM_000138.5(FBN1):c.1622G>A:p.Cys541Tyr	coding	Pathogenic
15	48510152	G	A	G48510152A	FBN1	NM_000138.4(FBN1):c.1606C>T:p.Gln536Ter	coding	Pathogenic/Likely_pathogenic
15	48510170	C	T	C48510170T	FBN1	NM_000138.4(FBN1):c.1589-1G>A	coding	Pathogenic
15	48510178	A	T	A48510178T	FBN1	NM_000138.4(FBN1):c.1589-9T>A	noncoding	Pathogenic
15	48513552	G	A	G48513552A	FBN1	NM_000138.4(FBN1):c.1585C>T:p.Arg529Ter	coding	Pathogenic
15	48513554	C	T	C48513554T	FBN1	NM_000138.4(FBN1):c.1583G>A:p.Cys528Tyr	coding	Pathogenic
15	48513558	C	A	C48513558A	FBN1	NM_000138.4(FBN1):c.1579G>T:p.Glu527Ter	coding	Pathogenic
15	48513579	G	A	G48513579A	FBN1	NM_000138.4(FBN1):c.1558C>T:p.Gln520Ter	coding	Pathogenic
15	48513585	C	A	C48513585A	FBN1	NM_000138.4(FBN1):c.1552G>T:p.Gly518Ter	coding	Pathogenic
15	48513591	G	A	G48513591A	FBN1	NM_000138.5(FBN1):c.1546C>T:p.Arg516Ter	coding	Pathogenic
15	48513605	T	C	T48513605C	FBN1	NM_000138.4(FBN1):c.1532A>G:p.Tyr511Cys	coding	Pathogenic
15	48513607	C	A	C48513607A	FBN1	NM_000138.4(FBN1):c.1530G>T:p.Ser510=	coding	Benign/Likely_benign
15	48513625	A	T	A48513625T	FBN1	NM_000138.4(FBN1):c.1512T>A:p.Cys504Ter	coding	Pathogenic
15	48513626	C	T	C48513626T	FBN1	NM_000138.4(FBN1):c.1511G>A:p.Cys504Tyr	coding	Pathogenic
15	48513627	A	G	A48513627G	FBN1	NM_000138.4(FBN1):c.1510T>C:p.Cys504Arg	coding	Pathogenic
15	48513627	A	T	A48513627T	FBN1	NM_000138.4(FBN1):c.1510T>A:p.Cys504Ser	coding	Pathogenic
15	48513641	C	T	C48513641T	FBN1	NM_000138.4(FBN1):c.1496G>A:p.Cys499Tyr	coding	Pathogenic
15	48513642	A	T	A48513642T	FBN1	NM_000138.5(FBN1):c.1495T>A:p.Cys499Ser	coding	Pathogenic
15	48515382	C	T	C48515382T	FBN1	NM_000138.5(FBN1):c.1468+5G>A	noncoding	Pathogenic/Likely_pathogenic
15	48515385	A	C	A48515385C	FBN1	NM_000138.5(FBN1):c.1468+2T>G	noncoding	Pathogenic
15	48515385	A	G	A48515385G	FBN1	NM_000138.4(FBN1):c.1468+2T>C	noncoding	Pathogenic
15	48515392	C	T	C48515392T	FBN1	NM_000138.4(FBN1):c.1463G>A:p.Cys488Tyr	coding	Pathogenic
15	48515393	A	G	A48515393G	FBN1	NM_000138.4(FBN1):c.1462T>C:p.Cys488Arg	coding	Pathogenic/Likely_pathogenic
15	48515429	A	C	A48515429C	FBN1	NM_000138.4(FBN1):c.1426T>G:p.Cys476Gly	coding	Pathogenic
15	48515434	C	A	C48515434A	FBN1	NM_000138.4(FBN1):c.1421G>T:p.Cys474Phe	coding	Pathogenic
15	48515434	C	T	C48515434T	FBN1	NM_000138.4(FBN1):c.1421G>A:p.Cys474Tyr	coding	Pathogenic
15	48515484	G	C	G48515484C	FBN1	NM_000138.4(FBN1):c.1371C>G:p.Arg457=	coding	Benign/Likely_benign
15	48515495	G	A	G48515495A	FBN1	NM_000138.4(FBN1):c.1360C>T:p.Gln454Ter	coding	Pathogenic
15	48515671	A	G	A48515671G	FBN1	NM_000138.4(FBN1):c.1328-144T>C	noncoding	Benign
15	48516187	T	C	T48516187C	FBN1	NM_000138.4(FBN1):c.1323A>G:p.Pro441=	coding	Benign/Likely_benign
15	48516192	C	A	C48516192A	FBN1	NM_000138.4(FBN1):c.1318G>T:p.Glu440Ter	coding	Pathogenic
15	48516208	A	T	A48516208T	FBN1	NM_000138.4(FBN1):c.1302T>A:p.Tyr434Ter	coding	Pathogenic
15	48516225	G	A	G48516225A	FBN1	NM_000138.4(FBN1):c.1285C>T:p.Arg429Ter	coding	Pathogenic
15	48516240	G	A	G48516240A	FBN1	NM_000138.4(FBN1):c.1270C>T:p.Gln424Ter	coding	Pathogenic
15	48516318	T	A	T48516318A	FBN1	NM_000138.5(FBN1):c.1192A>T:p.Arg398Ter	coding	Pathogenic
15	48516364	T	C	T48516364C	FBN1	NM_000138.5(FBN1):c.1148-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	48516364	T	G	T48516364G	FBN1	NM_000138.4(FBN1):c.1148-2A>C	noncoding	Pathogenic
15	48516633	T	C	T48516633C	FBN1	NM_000138.4(FBN1):c.1148-271A>G	noncoding	Benign
15	48520631	T	C	T48520631C	FBN1	NM_000138.4(FBN1):c.1147+28A>G	noncoding	Benign
15	48520659	C	A	C48520659A	FBN1	NM_000138.5(FBN1):c.1147G>T:p.Glu383Ter	coding	Pathogenic
15	48520668	T	A	T48520668A	FBN1	NM_000138.4(FBN1):c.1138A>T:p.Arg380Ter	coding	Pathogenic
15	48520711	G	T	G48520711T	FBN1	NM_000138.5(FBN1):c.1095C>A:p.Cys365Ter	coding	Pathogenic
15	48520716	G	A	G48520716A	FBN1	NM_000138.4(FBN1):c.1090C>T:p.Arg364Ter	coding	Pathogenic
15	48520732	G	T	G48520732T	FBN1	NM_000138.4(FBN1):c.1074C>A:p.Cys358Ter	coding	Pathogenic
15	48520737	G	A	G48520737A	FBN1	NM_000138.5(FBN1):c.1069C>T:p.Gln357Ter	coding	Pathogenic
15	48520755	G	A	G48520755A	FBN1	NM_000138.5(FBN1):c.1051C>T:p.Gln351Ter	coding	Pathogenic
15	48520764	G	A	G48520764A	FBN1	NM_000138.4(FBN1):c.1042C>T:p.Gln348Ter	coding	Pathogenic
15	48520771	G	T	G48520771T	FBN1	NM_000138.4(FBN1):c.1035C>A:p.Cys345Ter	coding	Pathogenic
15	48520777	C	T	C48520777T	FBN1	NM_000138.5(FBN1):c.1029G>A:p.Gly343=	coding	Benign/Likely_benign
15	48520795	G	T	G48520795T	FBN1	NM_000138.4(FBN1):c.1011C>A:p.Tyr337Ter	coding	Pathogenic
15	48520818	C	G	C48520818G	FBN1	NM_000138.4(FBN1):c.989-1G>C	coding	Pathogenic
15	48525841	A	T	A48525841T	FBN1	NM_000138.4(FBN1):c.988+289T>A	noncoding	Benign
15	48526158	G	T	G48526158T	FBN1	NM_000138.4(FBN1):c.960C>A:p.Tyr320Ter	coding	Pathogenic
15	48526247	C	A	C48526247A	FBN1	NM_000138.4(FBN1):c.871G>T:p.Glu291Ter	coding	Pathogenic
15	48526538	G	A	G48526538A	FBN1	NM_000138.4(FBN1):c.863-283C>T	noncoding	Benign
15	48534083	C	A	C48534083A	FBN1	NM_000138.4(FBN1):c.859G>T:p.Glu287Ter	coding	Pathogenic
15	48534170	G	A	G48534170A	FBN1	NM_000138.4(FBN1):c.772C>T:p.Gln258Ter	coding	Pathogenic
15	48537615	A	T	A48537615T	FBN1	NM_000138.4(FBN1):c.732T>A:p.Cys244Ter	coding	Pathogenic
15	48537629	G	A	G48537629A	FBN1	NM_000138.5(FBN1):c.718C>T:p.Arg240Cys	coding	Pathogenic/Likely_pathogenic
15	48537668	G	A	G48537668A	FBN1	NM_000138.5(FBN1):c.679C>T:p.Gln227Ter	coding	Pathogenic
15	48537676	C	T	C48537676T	FBN1	NM_000138.4(FBN1):c.671G>A:p.Cys224Tyr	coding	Pathogenic
15	48537697	C	T	C48537697T	FBN1	NM_000138.4(FBN1):c.650G>A:p.Trp217Ter	coding	Pathogenic
15	48537702	T	G	T48537702G	FBN1	NM_000138.5(FBN1):c.645A>C:p.Arg215=	coding	Benign
15	48537704	G	A	G48537704A	FBN1	NM_000138.5(FBN1):c.643C>T:p.Arg215Ter	coding	Pathogenic
15	48537707	C	T	C48537707T	FBN1	NM_000138.4(FBN1):c.640G>A:p.Gly214Ser	coding	Pathogenic
15	48537721	C	A	C48537721A	FBN1	NM_000138.4(FBN1):c.626G>T:p.Cys209Phe	coding	Pathogenic
15	48537721	C	G	C48537721G	FBN1	NM_000138.4(FBN1):c.626G>C:p.Cys209Ser	coding	Pathogenic
15	48537731	T	A	T48537731A	FBN1	NM_000138.5(FBN1):c.616A>T:p.Lys206Ter	coding	Pathogenic
15	48537755	G	A	G48537755A	FBN1	NM_000138.4(FBN1):c.592C>T:p.Gln198Ter	coding	Pathogenic
15	48537789	A	T	A48537789T	FBN1	NM_000138.4(FBN1):c.558T>A:p.Cys186Ter	coding	Pathogenic
15	48537804	G	C	G48537804C	FBN1	NM_000138.5(FBN1):c.543C>G:p.Tyr181Ter	coding	Pathogenic
15	48537809	C	A	C48537809A	FBN1	NM_000138.4(FBN1):c.539-1G>T	coding	Pathogenic
15	48537809	C	T	C48537809T	FBN1	NM_000138.4(FBN1):c.539-1G>A	coding	Pathogenic
15	48596079	G	A	G48596079A	FBN1	NM_000138.4(FBN1):c.538+204C>T	noncoding	Benign
15	48596281	A	G	A48596281G	FBN1	NM_000138.4(FBN1):c.538+2T>C	noncoding	Pathogenic
15	48596291	C	T	C48596291T	FBN1	NM_000138.4(FBN1):c.530G>A:p.Cys177Tyr	coding	Pathogenic
15	48596295	G	A	G48596295A	FBN1	NM_000138.4(FBN1):c.526C>T:p.Gln176Ter	coding	Pathogenic
15	48596311	G	C	G48596311C	FBN1	NM_000138.4(FBN1):c.510C>G:p.Tyr170Ter	coding	Pathogenic/Likely_pathogenic
15	48596318	C	A	C48596318A	FBN1	NM_000138.4(FBN1):c.503G>T:p.Cys168Phe	coding	Pathogenic/Likely_pathogenic
15	48596318	C	T	C48596318T	FBN1	NM_000138.5(FBN1):c.503G>A:p.Cys168Tyr	coding	Pathogenic/Likely_pathogenic
15	48596319	A	G	A48596319G	FBN1	NM_000138.5(FBN1):c.502T>C:p.Cys168Arg	coding	Pathogenic/Likely_pathogenic
15	48596328	G	A	G48596328A	FBN1	NM_000138.5(FBN1):c.493C>T:p.Arg165Ter	coding	Pathogenic/Likely_pathogenic
15	48596342	C	T	C48596342T	FBN1	NM_000138.4(FBN1):c.479G>A:p.Cys160Tyr	coding	Pathogenic
15	48596413	T	C	T48596413C	FBN1	NM_000138.5(FBN1):c.443-35A>G	noncoding	Benign
15	48600142	G	A	G48600142A	FBN1	NM_000138.4(FBN1):c.439C>T:p.Gln147Ter	coding	Pathogenic
15	48600147	C	T	C48600147T	FBN1	NM_000138.4(FBN1):c.434G>A:p.Cys145Tyr	coding	Pathogenic
15	48600169	T	A	T48600169A	FBN1	NM_000138.4(FBN1):c.412A>T:p.Lys138Ter	coding	Pathogenic
15	48600172	G	A	G48600172A	FBN1	NM_000138.4(FBN1):c.409C>T:p.Gln137Ter	coding	Pathogenic
15	48600173	G	T	G48600173T	FBN1	NM_000138.4(FBN1):c.408C>A:p.Cys136Ter	coding	Pathogenic
15	48600175	A	C	A48600175C	FBN1	NM_000138.4(FBN1):c.406T>G:p.Cys136Gly	coding	Pathogenic
15	48600180	C	T	C48600180T	FBN1	NM_000138.4(FBN1):c.401G>A:p.Cys134Tyr	coding	Pathogenic/Likely_pathogenic
15	48600181	A	G	A48600181G	FBN1	NM_000138.4(FBN1):c.400T>C:p.Cys134Arg	coding	Pathogenic
15	48600195	C	T	C48600195T	FBN1	NM_000138.4(FBN1):c.386G>A:p.Cys129Tyr	coding	Pathogenic
15	48600196	A	C	A48600196C	FBN1	NM_000138.4(FBN1):c.385T>G:p.Cys129Gly	coding	Pathogenic
15	48600205	C	A	C48600205A	FBN1	NM_000138.4(FBN1):c.376G>T:p.Gly126Ter	coding	Pathogenic
15	48600213	C	T	C48600213T	FBN1	NM_000138.5(FBN1):c.368G>A:p.Cys123Tyr	coding	Pathogenic
15	48600217	G	A	G48600217A	FBN1	NM_000138.4(FBN1):c.364C>T:p.Arg122Cys	coding	Pathogenic
15	48600232	G	A	G48600232A	FBN1	NM_000138.5(FBN1):c.349C>T:p.Gln117Ter	coding	Pathogenic
15	48600236	T	C	T48600236C	FBN1	NM_000138.4(FBN1):c.347-2A>G	noncoding	Pathogenic
15	48610768	G	A	G48610768A	FBN1	NM_000138.5(FBN1):c.306C>T:p.Cys102=	coding	Benign/Likely_benign
15	48610808	C	A	C48610808A	FBN1	NM_000138.5(FBN1):c.266G>T:p.Cys89Phe	coding	Pathogenic
15	48610808	C	T	C48610808T	FBN1	NM_000138.4(FBN1):c.266G>A:p.Cys89Tyr	coding	Pathogenic/Likely_pathogenic
15	48610819	G	T	G48610819T	FBN1	NM_000138.4(FBN1):c.255C>A:p.Cys85Ter	coding	Pathogenic
15	48610929	A	G	A48610929G	FBN1	NM_000138.4(FBN1):c.248-103T>C	noncoding	Benign
15	48613009	C	A	C48613009A	FBN1	NM_000138.4(FBN1):c.247+1G>T	noncoding	Pathogenic
15	48613009	C	T	C48613009T	FBN1	NM_000138.5(FBN1):c.247+1G>A	noncoding	Pathogenic
15	48613019	A	G	A48613019G	FBN1	NM_000138.5(FBN1):c.238T>C:p.Cys80Arg	coding	Pathogenic
15	48613045	C	G	C48613045G	FBN1	NM_000138.4(FBN1):c.212G>C:p.Trp71Ser	coding	Pathogenic
15	48613054	C	A	C48613054A	FBN1	NM_000138.5(FBN1):c.203G>T:p.Cys68Phe	coding	Pathogenic
15	48613054	C	T	C48613054T	FBN1	NM_000138.4(FBN1):c.203G>A:p.Cys68Tyr	coding	Pathogenic/Likely_pathogenic
15	48613057	C	A	C48613057A	FBN1	NM_000138.5(FBN1):c.200G>T:p.Cys67Phe	coding	Pathogenic
15	48613059	G	C	G48613059C	FBN1	NM_000138.5(FBN1):c.198C>G:p.Tyr66Ter	coding	Pathogenic
15	48613068	A	C	A48613068C	FBN1	NM_000138.4(FBN1):c.189T>G:p.Tyr63Ter	coding	Pathogenic
15	48613073	G	A	G48613073A	FBN1	NM_000138.5(FBN1):c.184C>T:p.Arg62Cys	coding	Pathogenic/Likely_pathogenic
15	48613080	A	T	A48613080T	FBN1	NM_000138.5(FBN1):c.177T>A:p.Cys59Ter	coding	Pathogenic
15	48613094	T	G	T48613094G	FBN1	NM_000138.4(FBN1):c.165-2A>C	noncoding	Pathogenic
15	48644605	C	T	C48644605T	FBN1	NM_000138.4(FBN1):c.164+1G>A	noncoding	Pathogenic
15	48644607	C	A	C48644607A	FBN1	NM_000138.4(FBN1):c.163G>T:p.Gly55Ter	coding	Pathogenic
15	48644614	C	A	C48644614A	FBN1	NM_000138.5(FBN1):c.156G>T:p.Ala52=	coding	Benign
15	48644629	A	C	A48644629C	FBN1	NM_000138.4(FBN1):c.141T>G:p.Gly47=	coding	Benign
15	48644691	C	T	C48644691T	FBN1	NM_000138.5(FBN1):c.79G>A:p.Ala27Thr	coding	Benign/Likely_benign
15	48644695	C	T	C48644695T	FBN1	NM_000138.4(FBN1):c.75G>A:p.Ala25=	coding	Benign/Likely_benign
15	48644763	G	A	G48644763A	FBN1	NM_000138.4(FBN1):c.7C>T:p.Arg3Ter	coding	Pathogenic
15	48644767	C	A	C48644767A	FBN1	NM_000138.4(FBN1):c.3G>T:p.Met1Ile	coding	Pathogenic
15	48644767	C	T	C48644767T	FBN1	NM_000138.4(FBN1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
15	48644768	A	C	A48644768C	FBN1	NM_000138.4(FBN1):c.2T>G:p.Met1Arg	coding	Pathogenic
15	48644769	T	A	T48644769A	FBN1	NM_000138.4(FBN1):c.1A>T:p.Met1Leu	coding	Pathogenic
15	48644769	T	G	T48644769G	FBN1	NM_000138.4(FBN1):c.1A>C:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
15	48644804	G	A	G48644804A	FBN1	NM_000138.4(FBN1):c.-35C>T	noncoding	Benign/Likely_benign
15	48645142	G	A	G48645142A	FBN1	NM_000138.4(FBN1):c.-181-192C>T	noncoding	Benign
15	48645781	G	A	G48645781A	FBN1	NM_000138.4(FBN1):c.-388C>T	noncoding	Benign
15	48738055	C	T	C48738055T	CEP152	NM_001194998.2(CEP152):c.*194G>A	noncoding	Benign/Likely_benign
15	48738079	A	G	A48738079G	CEP152	NM_001194998.2(CEP152):c.*170T>C	noncoding	Benign
15	48738303	C	T	C48738303T	CEP152	NM_001194998.2(CEP152):c.5079G>A:p.Pro1693=	coding	Benign
15	48738304	G	A	G48738304A	CEP152	NM_001194998.2(CEP152):c.5078C>T:p.Pro1693Leu	coding	Benign/Likely_benign
15	48738468	T	C	T48738468C	CEP152	NM_001194998.2(CEP152):c.4914A>G:p.Pro1638=	coding	Benign/Likely_benign
15	48738525	A	G	A48738525G	CEP152	NM_001194998.2(CEP152):c.4857T>C:p.Asp1619=	coding	Benign/Likely_benign
15	48739083	A	G	A48739083G	CEP152	NM_001194998.2(CEP152):c.4299T>C:p.His1433=	coding	Benign
15	48739297	T	A	T48739297A	CEP152	NM_001194998.2(CEP152):c.4094-9A>T	noncoding	Benign/Likely_benign
15	48752341	C	G	C48752341G	CEP152	NM_001194998.2(CEP152):c.3466+8G>C	noncoding	Benign
15	48755923	C	G	C48755923G	CEP152	NM_001194998.2(CEP152):c.3325G>C:p.Ala1109Pro	coding	Benign/Likely_benign
15	48755931	A	G	A48755931G	CEP152	NM_001194998.2(CEP152):c.3317T>C:p.Val1106Ala	coding	Benign
15	48755970	C	T	C48755970T	CEP152	NM_001194998.2(CEP152):c.3278G>A:p.Cys1093Tyr	coding	Benign/Likely_benign
15	48756328	G	A	G48756328A	CEP152	NM_001194998.2(CEP152):c.2920C>T:p.Gln974Ter	coding	Pathogenic
15	48756444	T	C	T48756444C	CEP152	NM_001194998.2(CEP152):c.2804A>G:p.Gln935Arg	coding	Benign/Likely_benign
15	48756508	G	C	G48756508C	CEP152	NM_001194998.2(CEP152):c.2740C>G:p.Leu914Val	coding	Benign
15	48760134	C	A	C48760134A	CEP152	NM_001194998.2(CEP152):c.2694+1G>T	noncoding	Pathogenic
15	48760231	C	T	C48760231T	CEP152	NM_001194998.2(CEP152):c.2598G>A:p.Trp866Ter	coding	Pathogenic
15	48760472	A	C	A48760472C	CEP152	NM_001194998.2(CEP152):c.2563-206T>G	noncoding	Benign
15	48762575	C	A	C48762575A	CEP152	NM_001194998.2(CEP152):c.2378G>T:p.Ser793Ile	coding	Benign
15	48767444	G	A	G48767444A	CEP152	NM_001194998.2(CEP152):c.2038C>T:p.Gln680Ter	coding	Pathogenic
15	48767476	C	T	C48767476T	CEP152	NM_001194998.2(CEP152):c.2019-13G>A	noncoding	Benign
15	48767969	C	G	C48767969G	CEP152	NM_001194998.2(CEP152):c.2018+250G>C	noncoding	Benign
15	48768237	T	C	T48768237C	CEP152	NM_001194998.2(CEP152):c.2000A>G:p.Lys667Arg	coding	Benign/Likely_benign
15	48768336	C	G	C48768336G	CEP152	NM_001194998.2(CEP152):c.1909-8G>C	noncoding	Benign/Likely_benign
15	48768528	T	C	T48768528C	CEP152	NM_001194998.2(CEP152):c.1909-200A>G	noncoding	Benign
15	48781099	T	C	T48781099C	CEP152	NM_001194998.2(CEP152):c.1577+97A>G	noncoding	Benign
15	48781190	C	T	C48781190T	CEP152	NM_001194998.2(CEP152):c.1577+6G>A	noncoding	Benign/Likely_benign
15	48783721	T	C	T48783721C	CEP152	NM_001194998.2(CEP152):c.1321+252A>G	noncoding	Benign
15	48791380	C	T	C48791380T	CEP152	NM_001194998.2(CEP152):c.833-4G>A	noncoding	Benign
15	48793359	T	G	T48793359G	CEP152	NM_001194998.2(CEP152):c.794A>C:p.Gln265Pro	coding	Pathogenic/Likely_pathogenic
15	48795737	T	C	T48795737C	CEP152	NM_001194998.2(CEP152):c.691+273A>G	noncoding	Benign
15	48796001	G	A	G48796001A	CEP152	NM_001194998.2(CEP152):c.691+9C>T	noncoding	Benign
15	48797523	T	C	T48797523C	CEP152	NM_001194998.2(CEP152):c.318A>G:p.Glu106=	coding	Benign
15	48797660	C	G	C48797660G	CEP152	NM_001194998.2(CEP152):c.261+1G>C	noncoding	Pathogenic
15	48797937	C	T	C48797937T	CEP152	NM_001194998.2(CEP152):c.191+11G>A	noncoding	Benign
15	48797978	G	A	G48797978A	CEP152	NM_001194998.2(CEP152):c.161C>T:p.Ser54Leu	coding	Benign
15	48805589	C	T	C48805589T	CEP152	NM_001194998.2(CEP152):c.61G>A:p.Glu21Lys	coding	Benign
15	48805819	C	A	C48805819A	CEP152	NM_001194998.2(CEP152):c.-7-163G>T	noncoding	Benign
15	48810977	T	A	T48810977A	CEP152	NM_001194998.2(CEP152):c.-24A>T	noncoding	Benign
15	48810978	G	T	G48810978T	CEP152	NM_001194998.2(CEP152):c.-25C>A	noncoding	Benign
15	48810979	T	A	T48810979A	CEP152	NM_001194998.2(CEP152):c.-26A>T	noncoding	Benign
15	48811047	T	C	T48811047C	CEP152	NM_001194998.2(CEP152):c.-94A>G	noncoding	Benign
15	48996530	A	G	A48996530G	SECISBP2L	NM_001193489.2(SECISBP2L):c.2460T>C:p.Asp820=	coding	Benign
15	49133803	C	T	C49133803T	COPS2	NM_004236.4(COPS2):c.903G>A:p.Pro301=	coding	Benign
15	49860278	A	T	A49860278T	ATP8B4	NM_024837.4(ATP8B4):c.3495T>A:p.Asn1165Lys	coding	Benign
15	49934144	C	T	C49934144T	ATP8B4	NM_024837.4(ATP8B4):c.1326G>A:p.Ala442=	coding	Benign
15	50242506	C	T	C50242506T	HDC	NM_002112.4(HDC):c.1743G>A:p.Thr581=	coding	Benign
15	50242592	A	G	A50242592G	HDC	NM_002112.4(HDC):c.1657T>C:p.Phe553Leu	coding	Benign
15	50252520	C	T	C50252520T	HDC	NM_002112.4(HDC):c.951G>A:p.Trp317Ter	coding	Pathogenic
15	50449392	A	C	A50449392C	USP8	NM_005154.5(USP8):c.250-8A>C	noncoding	Benign
15	50459064	C	T	C50459064T	USP8	NM_005154.5(USP8):c.400C>T:p.Leu134=	coding	Benign
15	50465088	A	G	A50465088G	USP8	NM_005154.5(USP8):c.583A>G:p.Lys195Glu	coding	Benign
15	50471748	T	A	T50471748A	USP8	NM_005154.5(USP8):c.802T>A:p.Leu268Ile	coding	Benign
15	50477323	G	A	G50477323A	USP8	NM_005154.5(USP8):c.1042G>A:p.Ala348Thr	coding	Benign
15	50477443	A	G	A50477443G	USP8	NM_005154.5(USP8):c.1162A>G:p.Lys388Glu	coding	Benign
15	50481558	A	G	A50481558G	USP8	NM_005154.5(USP8):c.1296A>G:p.Gln432=	coding	Benign
15	50481590	A	G	A50481590G	USP8	NM_005154.5(USP8):c.1328A>G:p.Asp443Gly	coding	Benign
15	50481710	G	A	G50481710A	USP8	NM_005154.5(USP8):c.1448G>A:p.Arg483Gln	coding	Benign
15	50481726	G	A	G50481726A	USP8	NM_005154.5(USP8):c.1464G>A:p.Glu488=	coding	Benign
15	50481778	A	C	A50481778C	USP8	NM_005154.5(USP8):c.1516A>C:p.Lys506Gln	coding	Benign
15	50481937	C	T	C50481937T	USP8	NM_005154.5(USP8):c.1675C>T:p.His559Tyr	coding	Benign
15	50484328	T	C	T50484328C	USP8	NM_005154.5(USP8):c.1857T>C:p.Phe619=	coding	Benign
15	50490443	T	C	T50490443C	USP8	NM_005154.5(USP8):c.2152T>C:p.Ser718Pro	coding	Pathogenic
15	50490444	C	G	C50490444G	USP8	NM_005154.5(USP8):c.2153C>G:p.Ser718Cys	coding	Pathogenic
15	50490450	C	G	C50490450G	USP8	NM_005154.5(USP8):c.2159C>G:p.Pro720Arg	coding	Pathogenic
15	50494133	G	A	G50494133A	USP8	NM_005154.5(USP8):c.2511G>A:p.Leu837=	coding	Benign
15	50497164	C	T	C50497164T	USP8	NM_005154.5(USP8):c.2971C>T:p.Arg991Ter	coding	Pathogenic
15	50497226	G	A	G50497226A	USP8	NM_005154.5(USP8):c.3033G>A:p.Leu1011=	coding	Benign
15	50500812	C	G	C50500812G	USP50	NM_203494.5(USP50):c.962G>C:p.Gly321Ala	coding	Benign
15	50543676	T	C	T50543676C	USP50	NM_203494.5(USP50):c.366A>G:p.Ala122=	coding	Benign
15	50544649	G	C	G50544649C	USP50	NM_203494.5(USP50):c.186C>G:p.Leu62=	coding	Benign
15	50599148	C	T	C50599148T	TRPM7	NM_017672.6(TRPM7):c.3137G>A:p.Gly1046Asp	coding	Pathogenic
15	50604917	A	G	A50604917G	TRPM7	NM_017672.6(TRPM7):c.2937T>C:p.Phe979=	coding	Benign
15	50619754	G	A	G50619754A	TRPM7	NM_017672.6(TRPM7):c.1485C>T:p.Asp495=	coding	Benign
15	50632866	T	C	T50632866C	TRPM7	NM_017672.6(TRPM7):c.1131+3A>G	noncoding	Benign
15	50908557	C	T	C50908557T	AP4E1	NC_000015.10:g.50908557C>T	noncoding	Benign
15	50908642	A	C	A50908642C	AP4E1	NC_000015.10:g.50908642A>C	noncoding	Benign
15	50908961	A	G	A50908961G	AP4E1	NM_007347.5(AP4E1):c.150+33A>G	noncoding	Benign
15	50909084	A	G	A50909084G	AP4E1	NM_007347.5(AP4E1):c.150+156A>G	noncoding	Benign
15	50911936	C	T	C50911936T	AP4E1	NM_007347.5(AP4E1):c.151-142C>T	noncoding	Benign
15	50912098	G	A	G50912098A	AP4E1	NM_007347.5(AP4E1):c.171G>A:p.Gln57=	coding	Benign
15	50912167	G	A	G50912167A	AP4E1	NM_007347.5(AP4E1):c.222+18G>A	noncoding	Benign
15	50925164	T	C	T50925164C	AP4E1	NM_007347.5(AP4E1):c.487T>C:p.Cys163Arg	coding	Benign
15	50925230	T	G	T50925230G	AP4E1	NM_007347.5(AP4E1):c.542+11T>G	noncoding	Benign
15	50925278	G	A	G50925278A	AP4E1	NM_007347.5(AP4E1):c.542+59G>A	noncoding	Benign
15	50925477	A	G	A50925477G	AP4E1	NM_007347.5(AP4E1):c.542+258A>G	noncoding	Benign
15	50928792	G	A	G50928792A	AP4E1	NM_007347.5(AP4E1):c.543-217G>A	noncoding	Benign
15	50930954	A	G	A50930954G	AP4E1	NM_007347.5(AP4E1):c.852A>G:p.Leu284=	coding	Benign
15	50931252	C	G	C50931252G	AP4E1	NM_007347.5(AP4E1):c.869+281C>G	noncoding	Benign
15	50941615	T	C	T50941615C	AP4E1	NM_007347.5(AP4E1):c.1066+51T>C	noncoding	Benign
15	50941684	A	G	A50941684G	AP4E1	NM_007347.5(AP4E1):c.1085A>G:p.Tyr362Cys	coding	Benign
15	50941981	A	G	A50941981G	AP4E1	NM_007347.5(AP4E1):c.1176+206A>G	noncoding	Benign
15	50948011	T	C	T50948011C	AP4E1	NM_007347.5(AP4E1):c.1177-9T>C	noncoding	Benign/Likely_benign
15	50948126	A	G	A50948126G	AP4E1	NM_007347.5(AP4E1):c.1283A>G:p.Asn428Ser	coding	Benign/Likely_benign
15	50958413	G	A	G50958413A	AP4E1	NM_007347.5(AP4E1):c.1549-79G>A	noncoding	Benign
15	50958758	C	T	C50958758T	AP4E1	NM_007347.5(AP4E1):c.1815C>T:p.Ser605=	coding	Benign
15	50958925	T	G	T50958925G	AP4E1	NM_007347.5(AP4E1):c.1851+131T>G	noncoding	Benign
15	50993635	C	T	C50993635T	AP4E1	NM_007347.5(AP4E1):c.2346+10C>T	noncoding	Benign/Likely_benign
15	50993929	C	T	C50993929T	AP4E1	NM_007347.5(AP4E1):c.2346+304C>T	noncoding	Benign
15	50997198	T	C	T50997198C	AP4E1	NM_007347.5(AP4E1):c.2347-128T>C	noncoding	Benign
15	50997408	C	T	C50997408T	AP4E1	NM_007347.5(AP4E1):c.2429C>T:p.Thr810Ile	coding	Benign
15	50997734	A	G	A50997734G	AP4E1	NM_007347.5(AP4E1):c.2755A>G:p.Met919Val	coding	Benign/Likely_benign
15	50998859	A	C	A50998859C	AP4E1	NM_007347.5(AP4E1):c.2905-213A>C	noncoding	Benign
15	50999064	A	G	A50999064G	AP4E1	NM_007347.5(AP4E1):c.2905-8A>G	noncoding	Benign
15	50999246	C	T	C50999246T	AP4E1	NM_007347.5(AP4E1):c.3079C>T:p.Leu1027=	coding	Benign/Likely_benign
15	50999379	G	A	G50999379A	AP4E1	NM_007347.5(AP4E1):c.3095+117G>A	noncoding	Benign
15	51001047	C	T	C51001047T	AP4E1	NM_007347.5(AP4E1):c.3117C>T:p.Asp1039=	coding	Benign/Likely_benign
15	51002635	G	A	G51002635A	AP4E1	NM_007347.5(AP4E1):c.3387G>A:p.Gln1129=	coding	Benign
15	51208085	T	C	T51208085C	CYP19A1	NM_000103.4(CYP19A1):c.*2723A>G	noncoding	Benign
15	51208184	G	A	G51208184A	CYP19A1	NM_000103.4(CYP19A1):c.*2624C>T	noncoding	Benign
15	51208297	C	T	C51208297T	CYP19A1	NM_000103.4(CYP19A1):c.*2511G>A	noncoding	Benign
15	51208341	C	T	C51208341T	CYP19A1	NM_000103.4(CYP19A1):c.*2467G>A	noncoding	Benign
15	51208638	C	T	C51208638T	CYP19A1	NM_000103.4(CYP19A1):c.*2170G>A	noncoding	Benign
15	51208769	C	A	C51208769A	CYP19A1	NM_000103.4(CYP19A1):c.*2039G>T	noncoding	Benign
15	51208920	T	C	T51208920C	CYP19A1	NM_000103.4(CYP19A1):c.*1888A>G	noncoding	Benign
15	51209207	C	T	C51209207T	CYP19A1	NM_000103.4(CYP19A1):c.*1601G>A	noncoding	Benign
15	51209512	A	G	A51209512G	CYP19A1	NM_000103.4(CYP19A1):c.*1296T>C	noncoding	Benign
15	51209618	G	A	G51209618A	CYP19A1	NM_000103.4(CYP19A1):c.*1190C>T	noncoding	Benign
15	51210528	T	A	T51210528A	CYP19A1	NM_000103.4(CYP19A1):c.*280A>T	noncoding	Benign
15	51210700	T	C	T51210700C	CYP19A1	NM_000103.4(CYP19A1):c.*108A>G	noncoding	Benign
15	51210789	G	A	G51210789A	CYP19A1	NM_000103.4(CYP19A1):c.*19C>T	noncoding	Benign
15	51211010	C	T	C51211010T	CYP19A1	NM_000103.4(CYP19A1):c.1310G>A:p.Cys437Tyr	coding	Pathogenic
15	51212359	G	A	G51212359A	CYP19A1	NM_000103.4(CYP19A1):c.1224C>T:p.Pro408=	coding	Benign
15	51212418	T	A	T51212418A	CYP19A1	NM_000103.4(CYP19A1):c.1165A>T:p.Lys389Ter	coding	Pathogenic
15	51212460	G	A	G51212460A	CYP19A1	NM_000103.4(CYP19A1):c.1123C>T:p.Arg375Cys	coding	Pathogenic
15	51212489	C	T	C51212489T	CYP19A1	NM_000103.4(CYP19A1):c.1094G>A:p.Arg365Gln	coding	Pathogenic
15	51212532	G	A	G51212532A	CYP19A1	NM_000103.4(CYP19A1):c.1051C>T:p.Gln351Ter	coding	Pathogenic
15	51215128	G	C	G51215128C	CYP19A1	NM_000103.4(CYP19A1):c.963C>G:p.Leu321=	coding	Benign
15	51215771	G	A	G51215771A	CYP19A1	NM_000103.4(CYP19A1):c.790C>T:p.Arg264Cys	coding	Benign
15	51218539	A	G	A51218539G	CYP19A1	NM_000103.4(CYP19A1):c.743+2T>C	noncoding	Pathogenic
15	51218658	G	T	G51218658T	CYP19A1	NM_000103.4(CYP19A1):c.629-3C>A	noncoding	Pathogenic
15	51222349	C	T	C51222349T	CYP19A1	NM_000103.4(CYP19A1):c.628G>A:p.Glu210Lys	coding	Pathogenic
15	51222375	G	A	G51222375A	CYP19A1	NM_000103.4(CYP19A1):c.602C>T:p.Thr201Met	coding	Benign
15	51222502	G	A	G51222502A	CYP19A1	NM_000103.4(CYP19A1):c.475C>T:p.Arg159Cys	coding	Benign
15	51227771	C	T	C51227771T	CYP19A1	NM_000103.4(CYP19A1):c.451+8G>A	noncoding	Benign
15	51236858	C	T	C51236858T	CYP19A1	NM_000103.4(CYP19A1):c.296+1G>A	noncoding	Pathogenic
15	51236915	T	C	T51236915C	CYP19A1	NM_000103.4(CYP19A1):c.240A>G:p.Val80=	coding	Benign
15	51236969	G	A	G51236969A	CYP19A1	NM_000103.4(CYP19A1):c.186C>T:p.His62=	coding	Benign
15	51242798	A	G	A51242798G	CYP19A1	NM_000103.4(CYP19A1):c.115T>C:p.Trp39Arg	coding	Benign/Likely_benign
15	51242804	A	G	A51242804G	CYP19A1	NM_000103.4(CYP19A1):c.109T>C:p.Leu37=	coding	Benign/Likely_benign
15	51242871	G	C	G51242871C	CYP19A1	NM_000103.4(CYP19A1):c.42C>G:p.Thr14=	coding	Benign/Likely_benign
15	51323836	G	T	G51323836T	CYP19A1	NM_000103.4(CYP19A1):c.-39+14659C>A	noncoding	Benign
15	51323940	G	A	G51323940A	CYP19A1	NM_000103.4(CYP19A1):c.-39+14555C>T	noncoding	Benign
15	51341779	C	A	C51341779A	GLDN	NM_181789.4(GLDN):c.95C>A:p.Ala32Glu	coding	Pathogenic
15	51383819	C	T	C51383819T	GLDN	NM_181789.4(GLDN):c.468C>T:p.Asn156=	coding	Benign
15	51383893	G	A	G51383893A	GLDN	NM_181789.4(GLDN):c.541+1G>A	coding	Pathogenic
15	51404338	C	T	C51404338T	GLDN	NM_181789.4(GLDN):c.1240C>T:p.Arg414Ter	coding	Pathogenic
15	51404403	G	A	G51404403A	GLDN	NM_181789.4(GLDN):c.1305G>A:p.Trp435Ter	coding	Pathogenic/Likely_pathogenic
15	51404521	G	C	G51404521C	GLDN	NM_181789.4(GLDN):c.1423G>C:p.Ala475Pro	coding	Pathogenic
15	51404533	C	T	C51404533T	GLDN	NM_181789.4(GLDN):c.1435C>T:p.Arg479Ter	coding	Pathogenic
15	51458535	G	A	G51458535A	DMXL2	NM_001174116.2(DMXL2):c.8106C>T:p.Ile2702=	coding	Benign
15	51465630	T	C	T51465630C	DMXL2	NM_001174116.2(DMXL2):c.7542A>G:p.Thr2514=	coding	Benign
15	51465652	C	T	C51465652T	DMXL2	NM_015263.4(DMXL2):c.7518-1G>A	coding	Pathogenic
15	51466250	T	C	T51466250C	DMXL2	NM_001174116.2(DMXL2):c.7454A>G:p.Asp2485Gly	coding	Benign
15	51471365	C	T	C51471365T	DMXL2	NM_015263.4(DMXL2):c.7247G>A:p.Arg2416His	coding	Pathogenic
15	51474486	C	T	C51474486T	DMXL2	NM_001174116.2(DMXL2):c.7071G>A:p.Leu2357=	coding	Benign
15	51474573	A	G	A51474573G	DMXL2	NM_001174116.2(DMXL2):c.6984T>C:p.Asn2328=	coding	Benign
15	51474599	G	A	G51474599A	DMXL2	NM_001174116.2(DMXL2):c.6965-7C>T	noncoding	Benign
15	51480545	T	C	T51480545C	DMXL2	NM_001174116.2(DMXL2):c.6561A>G:p.Gln2187=	coding	Benign
15	51480940	T	G	T51480940G	DMXL2	NM_001174116.2(DMXL2):c.6166A>C:p.Arg2056=	coding	Benign
15	51481130	A	T	A51481130T	DMXL2	NM_001174116.2(DMXL2):c.5976T>A:p.Asp1992Glu	coding	Benign
15	51481160	G	A	G51481160A	DMXL2	NM_001174116.2(DMXL2):c.5946C>T:p.His1982=	coding	Benign
15	51486215	T	A	T51486215A	DMXL2	NM_001174116.2(DMXL2):c.5340A>T:p.Gln1780His	coding	Benign
15	51488035	A	C	A51488035C	DMXL2	NM_001174116.2(DMXL2):c.5136T>G:p.Ala1712=	coding	Benign
15	51488036	G	A	G51488036A	DMXL2	NM_015263.4(DMXL2):c.5135C>T:p.Ala1712Val	coding	Pathogenic
15	51498746	G	C	G51498746C	DMXL2	NM_001174117.2(DMXL2):c.2765-3612C>G	coding	Pathogenic
15	51498746	G	T	G51498746T	DMXL2	NM_001174117.2(DMXL2):c.2765-3612C>A	coding	Pathogenic
15	51498782	T	C	T51498782C	DMXL2	NM_001174116.2(DMXL2):c.4442A>G:p.Asp1481Gly	coding	Benign
15	51498890	A	G	A51498890G	DMXL2	NM_001174116.2(DMXL2):c.4334T>C:p.Ile1445Thr	coding	Benign
15	51499289	A	G	A51499289G	DMXL2	NM_001174116.2(DMXL2):c.3935T>C:p.Val1312Ala	coding	Benign
15	51499337	T	C	T51499337C	DMXL2	NM_001174116.2(DMXL2):c.3887A>G:p.Gln1296Arg	coding	Benign
15	51499364	C	A	C51499364A	DMXL2	NM_001174116.2(DMXL2):c.3860G>T:p.Ser1287Ile	coding	Benign
15	51499600	C	T	C51499600T	DMXL2	NM_001174116.2(DMXL2):c.3624G>A:p.Lys1208=	coding	Benign
15	51502932	G	T	G51502932T	DMXL2	NM_001174116.2(DMXL2):c.2866C>A:p.Pro956Thr	coding	Benign
15	51507191	T	C	T51507191C	DMXL2	NM_001174116.2(DMXL2):c.2707A>G:p.Asn903Asp	coding	Benign/Likely_benign
15	51536425	T	G	T51536425G	DMXL2	NM_001174116.2(DMXL2):c.2055A>C:p.Ser685=	coding	Benign
15	51536439	A	C	A51536439C	DMXL2	NM_001174116.2(DMXL2):c.2041T>G:p.Cys681Gly	coding	Benign
15	51537614	C	G	C51537614G	DMXL2	NM_001174116.2(DMXL2):c.1491G>C:p.Thr497=	coding	Benign
15	51542430	G	A	G51542430A	DMXL2	NM_001174116.2(DMXL2):c.1008C>T:p.Pro336=	coding	Benign
15	51564195	C	G	C51564195G	DMXL2	NM_001174116.2(DMXL2):c.430G>C:p.Glu144Gln	coding	Benign
15	51564257	T	C	T51564257C	DMXL2	NM_001174116.2(DMXL2):c.368A>G:p.Asn123Ser	coding	Benign
15	51565080	C	T	C51565080T	DMXL2	NM_001174116.2(DMXL2):c.364+8G>A	noncoding	Benign
15	51683349	T	C	T51683349C	SCG3	NM_013243.4(SCG3):c.312T>C:p.Asn104=	coding	Benign
15	52124529	G	A	G52124529A	GNB5	NM_016194.4(GNB5):c.1120C>T:p.Arg374Ter	coding	Pathogenic
15	52124542	G	A	G52124542A	GNB5	NM_016194.4(GNB5):c.1107C>T:p.Arg369=	coding	Benign
15	52124617	G	C	G52124617C	GNB5	NM_016194.4(GNB5):c.1032C>G:p.Tyr344Ter	coding	Pathogenic
15	52124617	G	T	G52124617T	GNB5	NM_016194.4(GNB5):c.1032C>A:p.Tyr344Ter	coding	Pathogenic/Likely_pathogenic
15	52135746	G	A	G52135746A	GNB5	NM_016194.4(GNB5):c.638C>T:p.Ala213Val	coding	Benign
15	52147482	T	A	T52147482A	GNB5	NM_016194.4(GNB5):c.471A>T:p.Pro157=	coding	Benign
15	52153937	T	C	T52153937C	GNB5	NM_016194.4(GNB5):c.375+3A>G	noncoding	Pathogenic
15	52153939	C	A	C52153939A	GNB5	NM_016194.4(GNB5):c.375+1G>T	noncoding	Pathogenic
15	52153940	C	T	C52153940T	GNB5	NM_016194.4(GNB5):c.375G>A:p.Gln125=	coding	Pathogenic
15	52153947	G	A	G52153947A	GNB5	NM_016194.4(GNB5):c.368C>T:p.Ser123Leu	coding	Pathogenic
15	52154003	G	A	G52154003A	GNB5	NM_016194.4(GNB5):c.312C>T:p.His104=	coding	Benign
15	52154063	C	T	C52154063T	GNB5	NM_016194.4(GNB5):c.252G>A:p.Ala84=	coding	Benign
15	52218687	C	G	C52218687G	MYO5C	NM_018728.4(MYO5C):c.3786G>C:p.Lys1262Asn	coding	Benign
15	52313744	G	C	G52313744C	MYO5A	NM_000259.3(MYO5A):c.5520C>G:p.Thr1840=	coding	Benign
15	52314142	G	A	G52314142A	MYO5A	NM_000259.3(MYO5A):c.5396C>T:p.Ser1799Leu	coding	Benign
15	52317044	C	T	C52317044T	MYO5A	NM_000259.3(MYO5A):c.5334+4G>A	noncoding	Benign
15	52319254	A	G	A52319254G	MYO5A	NM_000259.3(MYO5A):c.4965T>C:p.Asp1655=	coding	Benign
15	52319274	G	T	G52319274T	MYO5A	NM_000259.3(MYO5A):c.4945C>A:p.Arg1649=	coding	Benign
15	52319348	G	A	G52319348A	MYO5A	NM_000259.3(MYO5A):c.4877-6C>T	noncoding	Benign
15	52321396	G	C	G52321396C	MYO5A	NM_000259.3(MYO5A):c.4839C>G:p.Leu1613=	coding	Benign
15	52330402	C	T	C52330402T	MYO5A	NM_000259.3(MYO5A):c.4431G>A:p.Leu1477=	coding	Benign
15	52340235	G	C	G52340235C	MYO5A	NM_000259.3(MYO5A):c.4200C>G:p.Ser1400Arg	coding	Pathogenic
15	52343197	T	A	T52343197A	MYO5A	NM_000259.3(MYO5A):c.3960A>T:p.Arg1320Ser	coding	Benign
15	52351367	G	A	G52351367A	MYO5A	NM_000259.3(MYO5A):c.3736C>T:p.Arg1246Cys	coding	Benign
15	52353662	G	A	G52353662A	MYO5A	NM_000259.3(MYO5A):c.3568-4C>T	noncoding	Benign/Likely_benign
15	52353851	G	A	G52353851A	MYO5A	NM_000259.3(MYO5A):c.3567+20C>T	noncoding	Benign
15	52359977	T	C	T52359977C	MYO5A	NM_000259.3(MYO5A):c.3414A>G:p.Ser1138=	coding	Benign
15	52364656	G	A	G52364656A	MYO5A	NM_000259.3(MYO5A):c.3207C>T:p.Leu1069=	coding	Benign/Likely_benign
15	52372121	C	T	C52372121T	MYO5A	NM_000259.3(MYO5A):c.2817+3G>A	noncoding	Benign
15	52372127	C	T	C52372127T	MYO5A	NM_000259.3(MYO5A):c.2814G>A:p.Glu938=	coding	Benign/Likely_benign
15	52372211	G	A	G52372211A	MYO5A	NM_000259.3(MYO5A):c.2730C>T:p.Ile910=	coding	Benign
15	52376382	G	A	G52376382A	MYO5A	NM_000259.3(MYO5A):c.2385C>T:p.Thr795=	coding	Benign
15	52376435	G	A	G52376435A	MYO5A	NM_000259.3(MYO5A):c.2332C>T:p.Arg778Ter	coding	Pathogenic
15	52379854	G	C	G52379854C	MYO5A	NM_000259.3(MYO5A):c.2067C>G:p.Thr689=	coding	Benign
15	52383090	C	A	C52383090A	MYO5A	NM_000259.3(MYO5A):c.2012+1G>T	noncoding	Pathogenic
15	52384195	A	G	A52384195G	MYO5A	NM_000259.3(MYO5A):c.1880T>C:p.Met627Thr	coding	Benign
15	52384203	T	G	T52384203G	MYO5A	NM_000259.3(MYO5A):c.1872A>C:p.Pro624=	coding	Benign
15	52389376	A	G	A52389376G	MYO5A	NM_000259.3(MYO5A):c.1543-13T>C	noncoding	Benign
15	52396349	A	G	A52396349G	MYO5A	NM_000259.3(MYO5A):c.1368T>C:p.Tyr456=	coding	Benign
15	52397329	C	T	C52397329T	MYO5A	NM_000259.3(MYO5A):c.1191G>A:p.Thr397=	coding	Benign
15	52410393	A	G	A52410393G	MYO5A	NM_000259.3(MYO5A):c.696T>C:p.Tyr232=	coding	Benign/Likely_benign
15	52416280	G	A	G52416280A	MYO5A	NM_000259.3(MYO5A):c.477C>T:p.Ile159=	coding	Benign
15	52416305	T	C	T52416305C	MYO5A	NM_000259.3(MYO5A):c.456-4A>G	noncoding	Benign
15	53514276	T	G	T53514276G	WDR72	NM_182758.4(WDR72):c.*3423A>C	noncoding	Benign
15	53514474	A	C	A53514474C	WDR72	NM_182758.4(WDR72):c.*3225T>G	noncoding	Benign
15	53514891	C	A	C53514891A	WDR72	NM_182758.4(WDR72):c.*2808G>T	noncoding	Benign
15	53515202	C	T	C53515202T	WDR72	NM_182758.4(WDR72):c.*2497G>A	noncoding	Benign
15	53515618	G	A	G53515618A	WDR72	NM_182758.4(WDR72):c.*2081C>T	noncoding	Benign
15	53515767	A	C	A53515767C	WDR72	NM_182758.4(WDR72):c.*1932T>G	noncoding	Benign
15	53515801	C	T	C53515801T	WDR72	NM_182758.4(WDR72):c.*1898G>A	noncoding	Benign
15	53515960	C	T	C53515960T	WDR72	NM_182758.4(WDR72):c.*1739G>A	noncoding	Benign
15	53516645	G	A	G53516645A	WDR72	NM_182758.4(WDR72):c.*1054C>T	noncoding	Benign
15	53609531	C	T	C53609531T	WDR72	NM_182758.4(WDR72):c.2934G>A:p.Trp978Ter	coding	Pathogenic
15	53615520	G	A	G53615520A	WDR72	NM_182758.4(WDR72):c.2686C>T:p.Arg896Ter	coding	Pathogenic
15	53615684	A	T	A53615684T	WDR72	NM_182758.4(WDR72):c.2522T>A:p.Leu841Gln	coding	Pathogenic
15	53615751	G	A	G53615751A	WDR72	NM_182758.4(WDR72):c.2455C>T:p.Leu819Phe	coding	Benign/Likely_benign
15	53615858	G	C	G53615858C	WDR72	NM_182758.4(WDR72):c.2348C>G:p.Ser783Ter	coding	Pathogenic
15	53702296	A	G	A53702296G	WDR72	NM_182758.4(WDR72):c.1407T>C:p.Tyr469=	coding	Benign
15	53705141	T	G	T53705141G	WDR72	NM_182758.4(WDR72):c.1195A>C:p.Lys399Gln	coding	Benign
15	53710894	G	A	G53710894A	WDR72	NM_182758.4(WDR72):c.917C>T:p.Pro306Leu	coding	Benign/Likely_benign
15	53712775	C	T	C53712775T	WDR72	NM_182758.4(WDR72):c.708G>A:p.Trp236Ter	coding	Pathogenic
15	53716598	T	C	T53716598C	WDR72	NM_182758.4(WDR72):c.339+9A>G	noncoding	Benign
15	53716648	T	C	T53716648C	WDR72	NM_182758.4(WDR72):c.298A>G:p.Met100Val	coding	Benign
15	55202953	G	A	G55202953A	RAB27A	NM_183235.2(RAB27A):c.*2554C>T	noncoding	Benign
15	55203158	T	C	T55203158C	RAB27A	NM_183235.3(RAB27A):c.*2349A>G	noncoding	Benign
15	55203440	G	C	G55203440C	RAB27A	NM_183235.3(RAB27A):c.*2067C>G	noncoding	Benign
15	55203500	C	T	C55203500T	RAB27A	NM_183235.3(RAB27A):c.*2007G>A	noncoding	Benign
15	55203765	T	C	T55203765C	RAB27A	NM_183235.3(RAB27A):c.*1742A>G	noncoding	Benign
15	55203845	T	A	T55203845A	RAB27A	NM_183235.3(RAB27A):c.*1662A>T	noncoding	Benign
15	55203860	A	C	A55203860C	RAB27A	NM_183235.3(RAB27A):c.*1647T>G	noncoding	Benign
15	55203913	T	C	T55203913C	RAB27A	NM_183235.3(RAB27A):c.*1594A>G	noncoding	Benign
15	55204080	C	T	C55204080T	RAB27A	NM_183235.3(RAB27A):c.*1427G>A	noncoding	Benign
15	55204089	A	T	A55204089T	RAB27A	NM_183235.3(RAB27A):c.*1418T>A	noncoding	Benign
15	55204115	T	G	T55204115G	RAB27A	NM_183235.3(RAB27A):c.*1392A>C	noncoding	Benign
15	55204494	A	G	A55204494G	RAB27A	NM_183235.3(RAB27A):c.*1013T>C	noncoding	Benign
15	55204558	T	C	T55204558C	RAB27A	NM_183235.3(RAB27A):c.*949A>G	noncoding	Benign
15	55204571	G	T	G55204571T	RAB27A	NM_183235.3(RAB27A):c.*936C>A	noncoding	Benign
15	55204655	G	A	G55204655A	RAB27A	NM_183235.3(RAB27A):c.*852C>T	noncoding	Benign
15	55204665	C	T	C55204665T	RAB27A	NM_183235.3(RAB27A):c.*842G>A	noncoding	Benign
15	55204776	C	A	C55204776A	RAB27A	NM_183235.3(RAB27A):c.*731G>T	noncoding	Benign
15	55205035	T	G	T55205035G	RAB27A	NM_183235.3(RAB27A):c.*472A>C	noncoding	Benign
15	55205120	T	C	T55205120C	RAB27A	NM_183235.3(RAB27A):c.*387A>G	noncoding	Benign
15	55205493	G	A	G55205493A	RAB27A	NM_183235.3(RAB27A):c.*14C>T	noncoding	Benign
15	55205579	C	T	C55205579T	RAB27A	NM_183235.3(RAB27A):c.594G>A:p.Val198=	coding	Benign
15	55205623	G	A	G55205623A	RAB27A	NM_183235.3(RAB27A):c.550C>T:p.Arg184Ter	coding	Pathogenic
15	55205708	G	A	G55205708A	RAB27A	NM_183235.3(RAB27A):c.468-3C>T	noncoding	Benign
15	55223902	C	G	C55223902G	RAB27A	NM_183235.3(RAB27A):c.454G>C:p.Ala152Pro	coding	Pathogenic
15	55223967	A	G	A55223967G	RAB27A	NM_183235.3(RAB27A):c.389T>C:p.Leu130Pro	coding	Pathogenic
15	55224004	G	A	G55224004A	RAB27A	NM_183235.3(RAB27A):c.352C>T:p.Gln118Ter	coding	Pathogenic
15	55230398	T	C	T55230398C	RAB27A	NM_183235.3(RAB27A):c.239+3A>G	noncoding	Pathogenic
15	55230423	A	C	A55230423C	RAB27A	NM_183235.3(RAB27A):c.217T>G:p.Trp73Gly	coding	Pathogenic
15	55230473	C	T	C55230473T	RAB27A	NM_183235.3(RAB27A):c.167G>A:p.Ser56Asn	coding	Benign/Likely_benign
15	55230526	C	G	C55230526G	RAB27A	NM_183235.3(RAB27A):c.154-40G>C	noncoding	Benign
15	55234933	A	G	A55234933G	RAB27A	NM_183235.3(RAB27A):c.2T>C:p.Met1Thr	coding	Pathogenic
15	55270289	T	C	T55270289C	RAB27A	NM_183235.3(RAB27A):c.-142-5A>G	noncoding	Benign
15	55320323	G	A	G55320323A	PIGB	NM_004855.5(PIGB):c.212G>A:p.Arg71Gln	coding	Pathogenic
15	55321365	T	G	T55321365G	PIGB	NM_004855.5(PIGB):c.392T>G:p.Leu131Ter	coding	Pathogenic
15	55333908	G	A	G55333908A	PIGB	NM_004855.5(PIGB):c.695G>A:p.Arg232His	coding	Pathogenic
15	55340602	A	G	A55340602G	PIGB	NM_004855.5(PIGB):c.847-10A>G	noncoding	Pathogenic
15	55340621	G	C	G55340621C	PIGB	NM_004855.5(PIGB):c.856G>C:p.Val286Leu	coding	Pathogenic
15	55350737	G	C	G55350737C	PIGB	NM_004855.5(PIGB):c.1162G>C:p.Ala388Pro	coding	Pathogenic
15	55355378	A	G	A55355378G	PIGB	NM_004855.5(PIGB):c.1611A>G:p.Ile537Met	coding	Pathogenic
15	55355419	A	C	A55355419C	PIGB	NM_004855.5(PIGB):c.1652A>C:p.Lys551Thr	coding	Benign
15	55430674	G	C	G55430674C	DNAAF4	NM_130810.4(DNAAF4):c.1259C>G:p.Ser420Cys	coding	Benign
15	55430684	C	A	C55430684A	DNAAF4	NM_130810.4(DNAAF4):c.1249G>T:p.Glu417Ter	coding	Benign
15	55432539	G	A	G55432539A	DNAAF4	NM_130810.4(DNAAF4):c.1111C>T:p.Arg371Ter	coding	Pathogenic
15	55434904	C	T	C55434904T	DNAAF4	NM_130810.4(DNAAF4):c.1047+1G>A	noncoding	Pathogenic
15	55439509	C	A	C55439509A	DNAAF4	NM_130810.4(DNAAF4):c.856G>T:p.Glu286Ter	coding	Pathogenic
15	55439557	G	A	G55439557A	DNAAF4	NM_130810.4(DNAAF4):c.808C>T:p.Arg270Ter	coding	Pathogenic/Likely_pathogenic
15	55466995	T	C	T55466995C	DNAAF4	NM_130810.4(DNAAF4):c.572A>G:p.Glu191Gly	coding	Benign
15	55491144	G	A	G55491144A	DNAAF4	NM_130810.4(DNAAF4):c.384C>T:p.Tyr128=	coding	Benign
15	55491203	C	A	C55491203A	DNAAF4	NM_130810.4(DNAAF4):c.325G>T:p.Glu109Ter	coding	Pathogenic
15	55497712	C	T	C55497712T	DNAAF4	NM_130810.4(DNAAF4):c.271G>A:p.Val91Ile	coding	Benign
15	55497855	T	C	T55497855C	DNAAF4	NM_130810.4(DNAAF4):c.128A>G:p.Asn43Ser	coding	Benign
15	55498216	G	T	G55498216T	DNAAF4	NM_130810.4(DNAAF4):c.114C>A:p.Asn38Lys	coding	Benign
15	55498299	G	A	G55498299A	DNAAF4	NM_130810.4(DNAAF4):c.31C>T:p.Gln11Ter	coding	Pathogenic
15	55498332	C	T	C55498332T	DNAAF4	NM_130810.4(DNAAF4):c.-3G>A	noncoding	Benign
15	55672580	C	G	C55672580G	PRTG	NM_173814.6(PRTG):c.1906G>C:p.Val636Leu	coding	Benign
15	55673468	A	G	A55673468G	PRTG	NM_173814.6(PRTG):c.1755T>C:p.Ser585=	coding	Benign
15	55834113	C	T	C55834113T	NEDD4	NM_006154.4(NEDD4):c.2355G>A:p.Val785=	coding	Benign
15	55850653	C	T	C55850653T	NEDD4	NM_006154.4(NEDD4):c.1236G>A:p.Val412=	coding	Benign
15	55869581	C	G	C55869581G	NEDD4	NM_006154.4(NEDD4):c.505G>C:p.Glu169Gln	coding	Benign
15	55915314	A	G	A55915314G	NEDD4	NM_006154.4(NEDD4):c.291+9332T>C	coding	Benign
15	55915392	T	C	T55915392C	NEDD4	NM_006154.4(NEDD4):c.291+9254A>G	coding	Benign
15	55915457	A	G	A55915457G	NEDD4	NM_006154.4(NEDD4):c.291+9189T>C	coding	Benign
15	55915480	C	G	C55915480G	NEDD4	NM_006154.4(NEDD4):c.291+9166G>C	coding	Benign
15	55915910	G	A	G55915910A	NEDD4	NM_006154.4(NEDD4):c.291+8736C>T	coding	Benign
15	55915914	A	T	A55915914T	NEDD4	NM_006154.4(NEDD4):c.291+8732T>A	coding	Benign
15	55915980	C	T	C55915980T	NEDD4	NM_006154.4(NEDD4):c.291+8666G>A	coding	Benign
15	55916278	A	T	A55916278T	NEDD4	NM_006154.4(NEDD4):c.291+8368T>A	coding	Benign
15	55916336	C	T	C55916336T	NEDD4	NM_006154.4(NEDD4):c.291+8310G>A	coding	Benign
15	55916745	G	T	G55916745T	NEDD4	NM_006154.4(NEDD4):c.291+7901C>A	coding	Benign
15	56094316	T	A	T56094316A	RFX7	NM_022841.7(RFX7):c.3412A>T:p.Asn1138Tyr	coding	Benign
15	56095334	T	C	T56095334C	RFX7	NM_022841.7(RFX7):c.2394A>G:p.Gln798=	coding	Benign
15	56096136	C	A	C56096136A	RFX7	NM_022841.7(RFX7):c.1592G>T:p.Gly531Val	coding	Benign
15	56429102	C	A	C56429102A	MNS1	NM_018365.4(MNS1):c.1487G>T:p.Ter496Leu	coding	Benign
15	56443817	G	A	G56443817A	MNS1	NM_018365.4(MNS1):c.724C>T:p.Arg242Ter	coding	Pathogenic
15	56921008	A	G	A56921008G	TCF12	NM_207037.2(TCF12):c.76-18A>G	noncoding	Benign
15	56921085	A	G	A56921085G	TCF12	NM_207037.2(TCF12):c.135A>G:p.Gln45=	coding	Benign
15	57091863	A	G	A57091863G	TCF12	NM_207037.2(TCF12):c.297A>G:p.Pro99=	coding	Benign
15	57197836	A	G	A57197836G	TCF12	NM_207037.2(TCF12):c.579+11A>G	noncoding	Benign
15	57232327	C	G	C57232327G	TCF12	NM_207037.2(TCF12):c.722C>G:p.Ser241Ter	coding	Pathogenic
15	57232403	T	G	T57232403G	TCF12	NM_207037.2(TCF12):c.798T>G:p.Tyr266Ter	coding	Pathogenic
15	57232728	C	G	C57232728G	TCF12	NM_207037.2(TCF12):c.842C>G:p.Ser281Ter	coding	Pathogenic
15	57232784	G	A	G57232784A	TCF12	NM_207037.2(TCF12):c.898G>A:p.Gly300Ser	coding	Benign
15	57234110	G	C	G57234110C	TCF12	NM_207037.2(TCF12):c.1035+3G>C	noncoding	Pathogenic
15	57243463	T	C	T57243463C	TCF12	NM_207037.2(TCF12):c.1036-9T>C	noncoding	Benign
15	57243507	G	A	G57243507A	TCF12	NM_207037.2(TCF12):c.1071G>A:p.Pro357=	coding	Benign
15	57253454	C	T	C57253454T	TCF12	NM_207037.2(TCF12):c.1453C>T:p.Arg485Ter	coding	Pathogenic
15	57262146	T	G	T57262146G	TCF12	NM_207037.2(TCF12):c.1520T>G:p.Leu507Arg	coding	Benign
15	57262167	C	A	C57262167A	TCF12	NM_207037.2(TCF12):c.1541C>A:p.Ser514Ter	coding	Pathogenic
15	57262215	A	G	A57262215G	TCF12	NM_207037.2(TCF12):c.1582+7A>G	noncoding	Benign
15	57263167	C	T	C57263167T	TCF12	NM_207037.2(TCF12):c.1638C>T:p.Asn546=	coding	Benign
15	57273122	G	A	G57273122A	TCF12	NM_207037.2(TCF12):c.1838G>A:p.Arg613His	coding	Pathogenic
15	57273160	C	T	C57273160T	TCF12	NM_207037.2(TCF12):c.1876C>T:p.Arg626Ter	coding	Pathogenic
15	57273178	T	C	T57273178C	TCF12	NM_207037.2(TCF12):c.1894T>C:p.Leu632=	coding	Benign
15	57273196	C	G	C57273196G	TCF12	NM_207037.2(TCF12):c.1912C>G:p.Gln638Glu	coding	Pathogenic
15	57273234	C	T	C57273234T	TCF12	NM_207037.2(TCF12):c.1950C>T:p.Val650=	coding	Benign
15	57273247	G	T	G57273247T	TCF12	NM_207037.2(TCF12):c.1963G>T:p.Glu655Ter	coding	Pathogenic
15	57452298	T	C	T57452298C	CGNL1	NM_032866.5(CGNL1):c.2054+9T>C	noncoding	Benign
15	57523584	C	T	C57523584T	CGNL1	NM_032866.5(CGNL1):c.2811C>T:p.Asn937=	coding	Benign
15	57544562	C	T	C57544562T	CGNL1	NM_032866.5(CGNL1):c.3465C>T:p.Ile1155=	coding	Benign
15	57712060	C	T	C57712060T	POLR2M	NM_015532.5(POLR2M):c.835C>T:p.Arg279Cys	coding	Benign
15	57714656	G	A	G57714656A	POLR2M	NM_015532.5(POLR2M):c.1084G>A:p.Asp362Asn	coding	Benign
15	59107670	G	A	G59107670A	CCNB2	NM_004701.4(CCNB2):c.267G>A:p.Lys89=	coding	Benign
15	59114475	T	C	T59114475C	CCNB2	NM_004701.4(CCNB2):c.299T>C:p.Met100Thr	coding	Benign
15	59124864	T	C	T59124864C	CCNB2	NM_004701.4(CCNB2):c.1184T>C:p.Ile395Thr	coding	Benign
15	59153697	G	A	G59153697A	MYO1E	NM_004998.4(MYO1E):c.2973C>T:p.Ser991=	coding	Benign
15	59173776	G	A	G59173776A	MYO1E	NM_004998.4(MYO1E):c.2304C>T:p.Asp768=	coding	Benign
15	59174160	C	T	C59174160T	MYO1E	NM_004998.4(MYO1E):c.2130G>A:p.Val710=	coding	Benign
15	59174205	A	C	A59174205C	MYO1E	NM_004998.4(MYO1E):c.2085T>G:p.Tyr695Ter	coding	Pathogenic
15	59205423	G	C	G59205423C	MYO1E	NM_004998.4(MYO1E):c.1593C>G:p.Ile531Met	coding	Benign/Likely_benign
15	59208762	C	T	C59208762T	MYO1E	NM_004998.4(MYO1E):c.1449G>A:p.Gln483=	coding	Benign
15	59224827	G	A	G59224827A	MYO1E	NM_004998.4(MYO1E):c.643-4C>T	noncoding	Benign
15	59231737	C	G	C59231737G	MYO1E	NM_004998.4(MYO1E):c.475G>C:p.Ala159Pro	coding	Pathogenic
15	59261504	A	G	A59261504G	MYO1E	NM_004998.4(MYO1E):c.153T>C:p.Tyr51=	coding	Benign
15	59618689	C	T	C59618689T	GCNT3	NM_004751.3(GCNT3):c.451C>T:p.Arg151Ter	coding	Benign
15	60449268	C	T	C60449268T	ICE2	NM_024611.6(ICE2):c.1699G>A:p.Val567Ile	coding	Benign
15	60449830	T	C	T60449830C	ICE2	NM_024611.6(ICE2):c.1137A>G:p.Glu379=	coding	Benign
15	60455347	T	A	T60455347A	ICE2	NM_024611.6(ICE2):c.762A>T:p.Gln254His	coding	Benign
15	60466693	G	A	G60466693A	ICE2	NM_024611.6(ICE2):c.429C>T:p.Asn143=	coding	Benign
15	60466706	T	C	T60466706C	ICE2	NM_024611.6(ICE2):c.416A>G:p.Lys139Arg	coding	Benign
15	60497529	G	A	G60497529A	RORA;RORA-AS1	NM_134261.3(RORA):c.1498C>T:p.Arg500Ter	coding	Pathogenic
15	60499914	C	T	C60499914T	RORA	NM_134261.3(RORA):c.1385G>A:p.Arg462Gln	coding	Pathogenic
15	60503623	T	C	T60503623C	RORA	NM_134261.3(RORA):c.987A>G:p.Glu329=	coding	Benign
15	60511263	G	A	G60511263A	RORA	NM_134261.3(RORA):c.783C>T:p.Asn261=	coding	Benign
15	60511431	G	A	G60511431A	RORA	NM_134261.3(RORA):c.615C>T:p.Asp205=	coding	Benign
15	60531767	T	C	T60531767C	RORA	NM_134261.3(RORA):c.281A>G:p.Lys94Arg	coding	Pathogenic
15	60531773	C	G	C60531773G	RORA	NM_134261.3(RORA):c.275G>C:p.Gly92Ala	coding	Pathogenic
15	60627233	C	T	C60627233T	RORA	NM_134261.3(RORA):c.196+51424G>A	noncoding	Benign/Likely_benign
15	61854543	T	C	T61854543C	VPS13C	NM_020821.3(VPS13C):c.11176A>G:p.Ile3726Val	coding	Benign
15	61868675	C	T	C61868675T	VPS13C	NM_020821.3(VPS13C):c.10847G>A:p.Gly3616Asp	coding	Benign
15	61869508	G	C	G61869508C	VPS13C	NM_020821.3(VPS13C):c.10740C>G:p.Gly3580=	coding	Benign
15	61873270	G	A	G61873270A	VPS13C	NM_020821.3(VPS13C):c.10554C>T:p.Ala3518=	coding	Benign
15	61877033	T	C	T61877033C	VPS13C	NM_020821.3(VPS13C):c.10164A>G:p.Arg3388=	coding	Benign
15	61882652	C	A	C61882652A	VPS13C	NM_020821.3(VPS13C):c.9568G>T:p.Glu3190Ter	coding	Pathogenic
15	61884203	G	A	G61884203A	VPS13C	NM_020821.3(VPS13C):c.9408C>T:p.Ile3136=	coding	Benign
15	61890341	C	T	C61890341T	VPS13C	NM_020821.3(VPS13C):c.9165G>A:p.Leu3055=	coding	Benign
15	61915631	A	C	A61915631C	VPS13C	NM_020821.3(VPS13C):c.8445+2T>G	noncoding	Pathogenic
15	61915636	A	G	A61915636G	VPS13C	NM_020821.3(VPS13C):c.8442T>C:p.Asn2814=	coding	Benign
15	61915655	T	C	T61915655C	VPS13C	NM_020821.3(VPS13C):c.8423A>G:p.Lys2808Arg	coding	Benign
15	61915712	A	G	A61915712G	VPS13C	NM_020821.3(VPS13C):c.8366T>C:p.Ile2789Thr	coding	Benign
15	61915725	G	A	G61915725A	VPS13C	NM_020821.3(VPS13C):c.8353C>T:p.Arg2785Cys	coding	Benign
15	61915840	T	C	T61915840C	VPS13C	NM_020821.3(VPS13C):c.8238A>G:p.Thr2746=	coding	Benign
15	61915890	G	A	G61915890A	VPS13C	NM_020821.3(VPS13C):c.8188C>T:p.Arg2730Cys	coding	Benign
15	61920227	A	G	A61920227G	VPS13C	NM_020821.3(VPS13C):c.7317T>C:p.Asn2439=	coding	Benign
15	61920248	A	G	A61920248G	VPS13C	NM_020821.3(VPS13C):c.7296T>C:p.Val2432=	coding	Benign
15	61920571	T	C	T61920571C	VPS13C	NM_020821.3(VPS13C):c.7139A>G:p.His2380Arg	coding	Benign
15	61927138	G	A	G61927138A	VPS13C	NM_020821.3(VPS13C):c.6469C>T:p.Leu2157Phe	coding	Benign
15	61941806	T	C	T61941806C	VPS13C	NM_020821.3(VPS13C):c.5410A>G:p.Ile1804Val	coding	Benign
15	61945803	G	A	G61945803A	VPS13C	NM_020821.3(VPS13C):c.5060C>T:p.Ala1687Val	coding	Benign
15	61949456	G	A	G61949456A	VPS13C	NM_020821.3(VPS13C):c.4746C>T:p.Ile1582=	coding	Benign
15	61949492	G	A	G61949492A	VPS13C	NM_020821.3(VPS13C):c.4710C>T:p.Ser1570=	coding	Benign
15	61951827	T	C	T61951827C	VPS13C	NM_020821.3(VPS13C):c.4453A>G:p.Thr1485Ala	coding	Benign
15	61951941	T	G	T61951941G	VPS13C	NM_020821.3(VPS13C):c.4339A>C:p.Arg1447=	coding	Benign
15	61954562	G	T	G61954562T	VPS13C	NM_020821.3(VPS13C):c.4166-8C>A	noncoding	Benign
15	61958608	C	G	C61958608G	VPS13C	NM_020821.3(VPS13C):c.4165G>C:p.Gly1389Arg	coding	Pathogenic
15	61962390	T	G	T61962390G	VPS13C	NM_020821.3(VPS13C):c.3584A>C:p.Lys1195Thr	coding	Benign
15	61963932	A	G	A61963932G	VPS13C	NM_020821.3(VPS13C):c.3234T>C:p.Asp1078=	coding	Benign
15	61972739	A	G	A61972739G	VPS13C	NM_020821.3(VPS13C):c.2643T>C:p.Ala881=	coding	Benign
15	61977090	T	G	T61977090G	VPS13C	NM_020821.3(VPS13C):c.2400A>C:p.Arg800Ser	coding	Benign
15	61977193	G	T	G61977193T	VPS13C	NM_020821.3(VPS13C):c.2297C>A:p.Thr766Asn	coding	Benign
15	61982559	T	G	T61982559G	VPS13C	NM_020821.3(VPS13C):c.1929A>C:p.Ala643=	coding	Benign
15	61984953	G	A	G61984953A	VPS13C	NM_020821.3(VPS13C):c.1625C>T:p.Thr542Met	coding	Benign
15	61991096	T	C	T61991096C	VPS13C	NM_020821.3(VPS13C):c.1484-2A>G	noncoding	Benign
15	61991794	C	T	C61991794T	VPS13C	NM_020821.3(VPS13C):c.1362G>A:p.Arg454=	coding	Benign
15	62008662	G	A	G62008662A	VPS13C	NM_020821.3(VPS13C):c.1111C>T:p.Arg371Ter	coding	Pathogenic
15	62020472	A	G	A62020472G	VPS13C	NM_020821.3(VPS13C):c.684+7T>C	noncoding	Benign
15	62657763	T	C	T62657763C	TLN2	NM_015059.2(TLN2):c.661-8T>C	noncoding	Benign
15	62701156	C	T	C62701156T	TLN2	NM_015059.2(TLN2):c.1638C>T:p.Ile546=	coding	Benign
15	62711930	G	A	G62711930A	TLN2	NM_015059.2(TLN2):c.2487G>A:p.Ala829=	coding	Benign
15	62717624	T	G	T62717624G	TLN2	NM_015059.2(TLN2):c.2812T>G:p.Ser938Ala	coding	Benign
15	62727176	C	T	C62727176T	TLN2	NM_015059.2(TLN2):c.3345C>T:p.Asn1115=	coding	Benign
15	62736961	G	A	G62736961A	TLN2	NM_015059.2(TLN2):c.3442G>A:p.Ala1148Thr	coding	Benign
15	62763673	C	T	C62763673T	TLN2	NM_015059.2(TLN2):c.5072C>T:p.Thr1691Met	coding	Benign
15	62766347	G	C	G62766347C	TLN2	NM_015059.2(TLN2):c.5121G>C:p.Val1707=	coding	Benign
15	62766380	C	T	C62766380T	TLN2	NM_015059.2(TLN2):c.5154C>T:p.Ile1718=	coding	Benign
15	62776841	G	A	G62776841A	TLN2	NM_015059.2(TLN2):c.5445G>A:p.Leu1815=	coding	Benign
15	62800487	T	C	T62800487C	TLN2	NM_015059.2(TLN2):c.6354T>C:p.Ala2118=	coding	Benign
15	62805632	A	G	A62805632G	TLN2	NM_015059.2(TLN2):c.6510A>G:p.Thr2170=	coding	Benign
15	62809954	C	T	C62809954T	TLN2	NM_015059.2(TLN2):c.6693C>T:p.Asp2231=	coding	Benign
15	63042321	C	A	C63042321A	TPM1	NC_000015.10:g.63042321C>A	noncoding	Benign
15	63042410	C	G	C63042410G	TPM1	NC_000015.10:g.63042410C>G	noncoding	Benign
15	63042436	C	G	C63042436G	TPM1	NC_000015.10:g.63042436C>G	noncoding	Benign
15	63042489	G	C	G63042489C	TPM1	NC_000015.10:g.63042489G>C	noncoding	Benign
15	63042499	C	G	C63042499G	TPM1	NC_000015.10:g.63042499C>G	noncoding	Benign
15	63042874	G	A	G63042874A	TPM1	NM_001018005.2(TPM1):c.45G>A:p.Lys15=	coding	Benign
15	63042890	C	A	C63042890A	TPM1	NM_001018005.2(TPM1):c.61C>A:p.Arg21=	coding	Benign
15	63043692	G	T	G63043692T	TPM1	NM_001018005.2(TPM1):c.115-335G>T	noncoding	Benign/Likely_benign
15	63043696	C	T	C63043696T	TPM1	NM_001018005.2(TPM1):c.115-331C>T	noncoding	Benign
15	63043708	C	G	C63043708G	TPM1	NM_001018005.2(TPM1):c.115-319C>G	coding	Benign
15	63043765	C	T	C63043765T	TPM1	NM_001018005.2(TPM1):c.115-262C>T	coding	Benign
15	63044030	G	A	G63044030A	TPM1	NM_001018005.2(TPM1):c.118G>A:p.Glu40Lys	coding	Pathogenic
15	63044072	G	A	G63044072A	TPM1	NM_001018005.2(TPM1):c.160G>A:p.Glu54Lys	coding	Pathogenic/Likely_pathogenic
15	63044092	C	T	C63044092T	TPM1	NM_001018005.2(TPM1):c.180C>T:p.Tyr60=	coding	Benign/Likely_benign
15	63048093	C	T	C63048093T	TPM1	NM_001018005.2(TPM1):c.240+3941C>T	noncoding	Benign
15	63048217	A	G	A63048217G	TPM1	NM_001018005.2(TPM1):c.240+4065A>G	noncoding	Benign
15	63048584	G	T	G63048584T	TPM1	NM_001018005.2(TPM1):c.240+4432G>T	coding	Benign
15	63049039	G	C	G63049039C	TPM1	NM_001018005.2(TPM1):c.240+4887G>C	noncoding	Benign
15	63057020	C	G	C63057020G	TPM1	NM_001018005.2(TPM1):c.276C>G:p.Ile92Met	coding	Pathogenic
15	63057028	T	C	T63057028C	TPM1	NM_001018005.2(TPM1):c.284T>C:p.Val95Ala	coding	Pathogenic/Likely_pathogenic
15	63057365	C	T	C63057365T	TPM1	NM_001018005.2(TPM1):c.374+247C>T	noncoding	Benign
15	63059289	G	A	G63059289A	TPM1	NM_001018005.2(TPM1):c.375-274G>A	noncoding	Benign
15	63059616	T	G	T63059616G	TPM1	NM_001018005.2(TPM1):c.428T>G:p.Ile143Ser	coding	Pathogenic
15	63059641	C	A	C63059641A	TPM1	NM_001018005.2(TPM1):c.453C>A:p.Ala151=	coding	Benign
15	63059667	G	A	G63059667A	TPM1	NM_001018005.2(TPM1):c.479G>A:p.Arg160His	coding	Pathogenic/Likely_pathogenic
15	63059674	T	C	T63059674C	TPM1	NM_001018005.2(TPM1):c.486T>C:p.Tyr162=	coding	Benign/Likely_benign
15	63059893	G	A	G63059893A	TPM1	NM_001018005.2(TPM1):c.492+213G>A	noncoding	Benign
15	63059941	G	T	G63059941T	TPM1	NM_001018005.2(TPM1):c.492+261G>T	noncoding	Benign
15	63060899	G	A	G63060899A	TPM1	NM_001018005.2(TPM1):c.523G>A:p.Asp175Asn	coding	Pathogenic
15	63060915	A	G	A63060915G	TPM1	NM_001018005.2(TPM1):c.539A>G:p.Glu180Gly	coding	Pathogenic
15	63061252	A	G	A63061252G	TPM1	NM_001018005.2(TPM1):c.563+313A>G	coding	Benign
15	63061723	G	A	G63061723A	TPM1	NM_001018005.2(TPM1):c.574G>A:p.Glu192Lys	coding	Pathogenic/Likely_pathogenic
15	63062219	C	T	C63062219T	TPM1	NM_001018005.2(TPM1):c.644C>T:p.Ser215Leu	coding	Pathogenic/Likely_pathogenic
15	63062263	G	A	G63062263A	TPM1	NM_001018005.2(TPM1):c.688G>A:p.Asp230Asn	coding	Pathogenic
15	63062615	A	G	A63062615G	TPM1	NM_001018005.2(TPM1):c.742A>G:p.Lys248Glu	coding	Pathogenic
15	63062893	C	G	C63062893G	TPM1	NM_001018005.2(TPM1):c.772+248C>G	noncoding	Benign
15	63064175	C	T	C63064175T	TPM1	NM_001018005.2(TPM1):c.851+33C>T	coding	Benign
15	63064338	A	G	A63064338G	TPM1	NM_001018005.2(TPM1):c.851+196A>G	noncoding	Benign
15	63065653	T	G	T63065653G	TPM1	NM_001018005.2(TPM1):c.852-243T>G	noncoding	Benign
15	63066047	G	T	G63066047T	TPM1	NM_001018005.2(TPM1):c.*148G>T	coding	Benign/Likely_benign
15	63071203	G	A	G63071203A	TPM1	NM_001018020.2(TPM1):c.*31G>A	noncoding	Benign
15	63121917	G	A	G63121917A	LACTB	NM_032857.5(LACTB):c.46G>A:p.Gly16Arg	coding	Benign
15	63121917	G	C	G63121917C	LACTB	NM_032857.5(LACTB):c.46G>C:p.Gly16Arg	coding	Benign
15	63121944	C	T	C63121944T	LACTB	NM_032857.5(LACTB):c.73C>T:p.Arg25Cys	coding	Benign
15	63127346	C	A	C63127346A	LACTB	NM_032857.5(LACTB):c.616-7C>A	noncoding	Benign
15	63141601	G	A	G63141601A	LACTB	NM_032857.5(LACTB):c.1440G>A:p.Arg480=	coding	Benign
15	63263610	G	A	G63263610A	RAB8B	NM_016530.3(RAB8B):c.615G>A:p.Ser205=	coding	Benign
15	63345479	C	T	C63345479T	CA12	NM_001218.5(CA12):c.427G>A:p.Glu143Lys	coding	Pathogenic
15	63345498	G	A	G63345498A	CA12	NM_001218.5(CA12):c.408C>T:p.Ser136=	coding	Benign
15	63345543	G	T	G63345543T	CA12	NM_001218.5(CA12):c.363C>A:p.His121Gln	coding	Pathogenic
15	63346567	G	C	G63346567C	CA12	NM_001218.5(CA12):c.249C>G:p.Ala83=	coding	Benign
15	63346588	G	A	G63346588A	CA12	NM_001218.5(CA12):c.228C>T:p.Phe76=	coding	Benign
15	63346612	G	A	G63346612A	CA12	NM_001218.5(CA12):c.204C>T:p.Asp68=	coding	Benign
15	63381648	C	T	C63381648T	CA12	NM_001218.5(CA12):c.73G>A:p.Ala25Thr	coding	Benign
15	63574385	C	A	C63574385A	USP3	NM_006537.4(USP3):c.1078C>A:p.Pro360Thr	coding	Benign
15	63588415	C	T	C63588415T	USP3	NM_006537.4(USP3):c.1207C>T:p.Leu403=	coding	Benign
15	63590745	C	T	C63590745T	USP3	NM_006537.4(USP3):c.1482C>T:p.Asp494=	coding	Benign
15	63601681	C	T	C63601681T	FBXL22	NM_203373.3(FBXL22):c.739C>T:p.Gln247Ter	coding	Benign
15	63609108	G	A	G63609108A	HERC1	NM_003922.4(HERC1):c.14559C>T:p.Asn4853=	coding	Benign
15	63609261	G	A	G63609261A	HERC1	NM_003922.4(HERC1):c.14406C>T:p.Tyr4802=	coding	Benign
15	63615790	C	G	C63615790G	HERC1	NM_003922.4(HERC1):c.14072G>C:p.Arg4691Pro	coding	Pathogenic
15	63616448	G	A	G63616448A	HERC1	NM_003922.4(HERC1):c.13923C>T:p.Thr4641=	coding	Benign
15	63616496	G	A	G63616496A	HERC1	NM_003922.4(HERC1):c.13875C>T:p.Tyr4625=	coding	Benign
15	63616655	G	A	G63616655A	HERC1	NM_003922.4(HERC1):c.13716C>T:p.Leu4572=	coding	Benign
15	63622897	G	C	G63622897C	HERC1	NM_003922.4(HERC1):c.13612-6C>G	noncoding	Benign
15	63623777	C	T	C63623777T	HERC1	NM_003922.4(HERC1):c.13559G>A:p.Gly4520Glu	coding	Pathogenic
15	63626080	T	C	T63626080C	HERC1	NM_003922.4(HERC1):c.13180A>G:p.Ile4394Val	coding	Benign
15	63635984	A	G	A63635984G	HERC1	NM_003922.4(HERC1):c.12391T>C:p.Leu4131=	coding	Benign
15	63638703	T	G	T63638703G	HERC1	NM_003922.4(HERC1):c.11967+8A>C	noncoding	Benign
15	63645525	C	T	C63645525T	HERC1	NM_003922.4(HERC1):c.11036G>A:p.Arg3679His	coding	Benign/Likely_benign
15	63648161	G	A	G63648161A	HERC1	NM_003922.4(HERC1):c.10786C>T:p.Pro3596Ser	coding	Benign
15	63649749	A	G	A63649749G	HERC1	NM_003922.4(HERC1):c.10723T>C:p.Leu3575=	coding	Benign
15	63649932	G	A	G63649932A	HERC1	NM_003922.4(HERC1):c.10547-7C>T	noncoding	Benign
15	63652550	G	T	G63652550T	HERC1	NM_003922.4(HERC1):c.10291-9C>A	noncoding	Benign
15	63654272	C	A	C63654272A	HERC1	NM_003922.4(HERC1):c.10137G>T:p.Leu3379=	coding	Benign
15	63655733	G	A	G63655733A	HERC1	NM_003922.4(HERC1):c.10084+9C>T	noncoding	Benign
15	63656210	G	A	G63656210A	HERC1	NM_003922.4(HERC1):c.9748C>T:p.Arg3250Ter	coding	Pathogenic
15	63658642	A	C	A63658642C	HERC1	NM_003922.4(HERC1):c.9501T>G:p.Pro3167=	coding	Benign
15	63661779	G	A	G63661779A	HERC1	NM_003922.4(HERC1):c.9144C>T:p.Thr3048=	coding	Benign
15	63661959	G	A	G63661959A	HERC1	NM_003922.4(HERC1):c.8964C>T:p.Val2988=	coding	Benign
15	63666005	C	T	C63666005T	HERC1	NM_003922.4(HERC1):c.8469G>A:p.Gly2823=	coding	Benign
15	63666028	C	T	C63666028T	HERC1	NM_003922.4(HERC1):c.8446G>A:p.Ala2816Thr	coding	Benign
15	63669656	T	C	T63669656C	HERC1	NM_003922.4(HERC1):c.8088A>G:p.Thr2696=	coding	Benign/Likely_benign
15	63674385	A	G	A63674385G	HERC1	NM_003922.4(HERC1):c.7803T>C:p.Val2601=	coding	Benign
15	63678051	G	A	G63678051A	HERC1	NM_003922.4(HERC1):c.6864C>T:p.Leu2288=	coding	Benign
15	63680582	C	T	C63680582T	HERC1	NM_003922.4(HERC1):c.6420G>A:p.Val2140=	coding	Benign
15	63686355	G	A	G63686355A	HERC1	NM_003922.4(HERC1):c.6225+4C>T	noncoding	Benign/Likely_benign
15	63686425	G	A	G63686425A	HERC1	NM_003922.4(HERC1):c.6159C>T:p.His2053=	coding	Benign
15	63686527	G	A	G63686527A	HERC1	NM_003922.4(HERC1):c.6057C>T:p.Gly2019=	coding	Benign
15	63689637	G	A	G63689637A	HERC1	NM_003922.4(HERC1):c.6000C>T:p.Ala2000=	coding	Benign
15	63689685	T	C	T63689685C	HERC1	NM_003922.4(HERC1):c.5952A>G:p.Leu1984=	coding	Benign
15	63694025	G	A	G63694025A	HERC1	NM_003922.4(HERC1):c.5613C>T:p.Asp1871=	coding	Benign
15	63698788	A	G	A63698788G	HERC1	NM_003922.4(HERC1):c.4845T>C:p.Ser1615=	coding	Benign
15	63698919	A	C	A63698919C	HERC1	NM_003922.4(HERC1):c.4714T>G:p.Ser1572Ala	coding	Benign/Likely_benign
15	63713584	C	A	C63713584A	HERC1	NM_003922.4(HERC1):c.4232G>T:p.Gly1411Val	coding	Benign
15	63725295	A	G	A63725295G	HERC1	NM_003922.4(HERC1):c.3565T>C:p.Leu1189=	coding	Benign
15	63729654	A	G	A63729654G	HERC1	NM_003922.4(HERC1):c.2869-5T>C	noncoding	Benign
15	63733098	G	A	G63733098A	HERC1	NM_003922.4(HERC1):c.2694C>T:p.His898=	coding	Benign
15	63734745	C	T	C63734745T	HERC1	NM_003922.4(HERC1):c.2625G>A:p.Trp875Ter	coding	Pathogenic
15	63734790	C	T	C63734790T	HERC1	NM_003922.4(HERC1):c.2580G>A:p.Arg860=	coding	Benign
15	63746981	T	C	T63746981C	HERC1	NM_003922.4(HERC1):c.2457A>G:p.Ala819=	coding	Benign
15	63747017	C	G	C63747017G	HERC1	NM_003922.4(HERC1):c.2421G>C:p.Ala807=	coding	Benign
15	63758213	G	A	G63758213A	HERC1	NM_003922.4(HERC1):c.1183C>T:p.Gln395Ter	coding	Pathogenic
15	63758268	A	G	A63758268G	HERC1	NM_003922.4(HERC1):c.1128T>C:p.Val376=	coding	Benign
15	63758295	A	G	A63758295G	HERC1	NM_003922.4(HERC1):c.1101T>C:p.Ile367=	coding	Benign
15	63764092	G	C	G63764092C	HERC1	NM_003922.4(HERC1):c.1026+4C>G	noncoding	Benign
15	63764123	G	A	G63764123A	HERC1	NM_003922.4(HERC1):c.999C>T:p.Tyr333=	coding	Benign
15	63774937	A	T	A63774937T	HERC1	NM_003922.4(HERC1):c.687T>A:p.Leu229=	coding	Benign
15	63775054	G	A	G63775054A	HERC1	NM_003922.4(HERC1):c.570C>T:p.Asn190=	coding	Benign
15	63908535	C	T	C63908535T	DAPK2	NM_014326.5(DAPK2):c.1098G>A:p.Arg366=	coding	Benign
15	63912195	C	T	C63912195T	DAPK2	NM_014326.5(DAPK2):c.861G>A:p.Pro287=	coding	Benign
15	63925943	G	A	G63925943A	DAPK2	NM_014326.5(DAPK2):c.810C>T:p.Thr270=	coding	Benign
15	63930399	C	A	C63930399A	DAPK2	NM_014326.5(DAPK2):c.632+8G>T	noncoding	Benign
15	63983644	C	T	C63983644T	DAPK2	NM_014326.5(DAPK2):c.203G>A:p.Arg68Gln	coding	Benign
15	64156002	A	T	A64156002T	PPIB	NM_000942.5(PPIB):c.*21T>A	noncoding	Benign
15	64156166	C	T	C64156166T	PPIB	NM_000942.5(PPIB):c.529-21G>A	coding	Benign
15	64156261	A	T	A64156261T	PPIB	NM_000942.5(PPIB):c.529-116T>A	coding	Benign
15	64156802	G	A	G64156802A	PPIB	NM_000942.5(PPIB):c.451C>T:p.Gln151Ter	coding	Pathogenic
15	64156970	G	A	G64156970A	PPIB;SNX22	NM_000942.5(PPIB):c.344-61C>T	coding	Benign
15	64160103	C	T	C64160103T	PPIB	NM_000942.4(PPIB):c.343+1G>A	noncoding	Pathogenic
15	64160123	G	A	G64160123A	PPIB	NM_000942.4(PPIB):c.324C>T:p.Thr108=	coding	Benign
15	64160134	C	T	C64160134T	PPIB	NM_000942.4(PPIB):c.313G>A:p.Gly105Arg	coding	Pathogenic
15	64162924	G	T	G64162924T	PPIB	NM_000942.4(PPIB):c.63C>A:p.Ser21=	coding	Benign
15	64162961	A	C	A64162961C	PPIB	NM_000942.4(PPIB):c.26T>G:p.Met9Arg	coding	Pathogenic
15	64162978	G	A	G64162978A	PPIB	NM_000942.5(PPIB):c.9C>T:p.Arg3=	coding	Benign
15	64163157	G	A	G64163157A	PPIB	NM_000942.4(PPIB):c.-171C>T	noncoding	Benign/Likely_benign
15	64163167	C	T	C64163167T	PPIB	NM_000942.4(PPIB):c.-181G>A	noncoding	Benign/Likely_benign
15	64387884	G	C	G64387884C	TRIP4	NM_016213.5(TRIP4):c.21G>C:p.Val7=	coding	Benign
15	64394099	G	A	G64394099A	TRIP4	NM_016213.5(TRIP4):c.255G>A:p.Gln85=	coding	Benign
15	64394102	C	T	C64394102T	TRIP4	NM_016213.5(TRIP4):c.258C>T:p.Cys86=	coding	Benign
15	64395495	G	A	G64395495A	TRIP4	NM_016213.5(TRIP4):c.369G>A:p.Thr123=	coding	Benign
15	64397652	A	G	A64397652G	TRIP4	NM_016213.5(TRIP4):c.452A>G:p.Asn151Ser	coding	Benign
15	64397782	A	G	A64397782G	TRIP4	NM_016213.5(TRIP4):c.582A>G:p.Gln194=	coding	Benign
15	64406392	C	T	C64406392T	TRIP4	NM_016213.5(TRIP4):c.760C>T:p.Arg254Ter	coding	Pathogenic
15	64409617	C	T	C64409617T	TRIP4	NM_016213.5(TRIP4):c.832C>T:p.Arg278Ter	coding	Pathogenic
15	64409735	G	A	G64409735A	TRIP4	NM_016213.5(TRIP4):c.950G>A:p.Arg317Gln	coding	Pathogenic
15	64409766	C	T	C64409766T	TRIP4	NM_016213.5(TRIP4):c.981C>T:p.Thr327=	coding	Benign
15	64418564	C	T	C64418564T	TRIP4	NM_016213.5(TRIP4):c.1194C>T:p.Ala398=	coding	Benign
15	64499843	G	T	G64499843T	ZNF609	NM_015042.2(ZNF609):c.424G>T:p.Gly142Cys	coding	Benign
15	64676073	C	T	C64676073T	ZNF609	NM_015042.2(ZNF609):c.3219C>T:p.Asp1073=	coding	Benign
15	64680192	C	T	C64680192T	ZNF609	NM_015042.2(ZNF609):c.3777C>T:p.Tyr1259=	coding	Benign
15	64680768	C	T	C64680768T	ZNF609	NM_015042.2(ZNF609):c.4068C>T:p.Thr1356=	coding	Benign
15	64816333	C	G	C64816333G	PIF1	NM_001286496.2(PIF1):c.1891G>C:p.Ala631Pro	coding	Benign
15	64816348	C	T	C64816348T	PIF1	NM_001286496.2(PIF1):c.1876G>A:p.Asp626Asn	coding	Benign
15	64816596	C	T	C64816596T	PIF1	NM_001286496.2(PIF1):c.1844G>A:p.Arg615Gln	coding	Benign
15	64816665	C	T	C64816665T	PIF1	NM_001286496.2(PIF1):c.1775G>A:p.Arg592His	coding	Benign
15	64818285	C	T	C64818285T	PIF1	NM_001286496.2(PIF1):c.1500G>A:p.Val500=	coding	Benign
15	64819124	C	G	C64819124G	PIF1	NM_001286496.2(PIF1):c.1433G>C:p.Gly478Ala	coding	Benign
15	64821047	C	T	C64821047T	PIF1	NM_001286496.2(PIF1):c.1128G>A:p.Leu376=	coding	Benign
15	64822348	C	A	C64822348A	PIF1	NM_001286496.2(PIF1):c.735G>T:p.Leu245=	coding	Benign
15	64963704	G	A	G64963704A	SPG21	NM_016630.7(SPG21):c.843C>T:p.Tyr281=	coding	Benign/Likely_benign
15	64965394	G	A	G64965394A	SPG21	NM_016630.7(SPG21):c.736C>T:p.Arg246Ter	coding	Pathogenic
15	64974732	C	G	C64974732G	SPG21	NM_016630.7(SPG21):c.322G>C:p.Ala108Pro	coding	Pathogenic
15	64974736	A	G	A64974736G	SPG21	NM_016630.7(SPG21):c.318T>C:p.Phe106=	coding	Benign
15	64981061	T	C	T64981061C	SPG21	NM_016630.7(SPG21):c.64-36A>G	noncoding	Benign
15	64981257	G	A	G64981257A	SPG21	NM_016630.7(SPG21):c.64-232C>T	noncoding	Benign
15	64989853	G	A	G64989853A	SPG21	NM_016630.7(SPG21):c.-213C>T	noncoding	Benign
15	65003140	T	C	T65003140C	MTFMT	NM_139242.4(MTFMT):c.1092A>G:p.Gln364=	coding	Benign/Likely_benign
15	65003167	C	T	C65003167T	MTFMT	NM_139242.4(MTFMT):c.1065G>A:p.Gln355=	coding	Benign
15	65003238	G	A	G65003238A	MTFMT	NM_139242.4(MTFMT):c.994C>T:p.Arg332Ter	coding	Pathogenic
15	65004923	C	T	C65004923T	MTFMT	NM_139242.4(MTFMT):c.906G>A:p.Thr302=	coding	Benign
15	65006120	G	A	G65006120A	MTFMT	NM_139242.4(MTFMT):c.885C>T:p.Val295=	coding	Benign/Likely_benign
15	65006127	C	T	C65006127T	MTFMT	NM_139242.4(MTFMT):c.878G>A:p.Ser293Asn	coding	Pathogenic
15	65016245	C	G	C65016245G	MTFMT	NM_139242.4(MTFMT):c.813+191G>C	noncoding	Benign
15	65016453	G	A	G65016453A	MTFMT	NM_139242.4(MTFMT):c.796C>T:p.Arg266Cys	coding	Benign
15	65020251	A	T	A65020251T	MTFMT	NM_139242.4(MTFMT):c.667T>A:p.Leu223Met	coding	Benign/Likely_benign
15	65021533	G	A	G65021533A	MTFMT	NM_139242.4(MTFMT):c.626C>T:p.Ser209Leu	coding	Pathogenic
15	65021558	C	T	C65021558T	MTFMT	NM_139242.4(MTFMT):c.601G>A:p.Ala201Thr	coding	Benign
15	65023397	T	G	T65023397G	MTFMT	NM_139242.4(MTFMT):c.542+275A>C	noncoding	Benign
15	65023762	G	A	G65023762A	MTFMT	NM_139242.4(MTFMT):c.452C>T:p.Pro151Leu	coding	Pathogenic
15	65024048	T	C	T65024048C	MTFMT	NM_139242.4(MTFMT):c.420-254A>G	noncoding	Benign
15	65026854	C	T	C65026854T	MTFMT	NM_139242.4(MTFMT):c.396G>A:p.Glu132=	coding	Benign
15	65026868	G	A	G65026868A	MTFMT	NM_139242.4(MTFMT):c.382C>T:p.Arg128Ter	coding	Pathogenic
15	65026876	G	A	G65026876A	MTFMT	NM_139242.4(MTFMT):c.374C>T:p.Ser125Leu	coding	Pathogenic
15	65027046	T	G	T65027046G	MTFMT	NM_139242.4(MTFMT):c.210-6A>C	noncoding	Benign
15	65029428	C	G	C65029428G	MTFMT	NM_139242.4(MTFMT):c.186G>C:p.Ala62=	coding	Benign
15	65029523	G	A	G65029523A	MTFMT	NM_139242.4(MTFMT):c.91C>T:p.Arg31Ter	coding	Pathogenic
15	65029541	G	A	G65029541A	MTFMT	NM_139242.4(MTFMT):c.73C>T:p.Gln25Ter	coding	Pathogenic
15	65029598	G	C	G65029598C	MTFMT	NM_139242.4(MTFMT):c.16C>G:p.Arg6Gly	coding	Benign/Likely_benign
15	65029600	A	G	A65029600G	MTFMT	NM_139242.4(MTFMT):c.14T>C:p.Val5Ala	coding	Benign
15	65029625	C	G	C65029625G	MTFMT	NM_139242.4(MTFMT):c.-12G>C	noncoding	Benign
15	65076803	C	T	C65076803T	KBTBD13	NM_001101362.2(KBTBD13):c.-13C>T	noncoding	Benign/Likely_benign
15	65076904	G	A	G65076904A	KBTBD13	NM_001101362.2(KBTBD13):c.89G>A:p.Gly30Asp	coding	Benign
15	65076930	G	C	G65076930C	KBTBD13	NM_001101362.2(KBTBD13):c.115G>C:p.Gly39Arg	coding	Benign
15	65076932	C	T	C65076932T	KBTBD13	NM_001101362.2(KBTBD13):c.117C>T:p.Gly39=	coding	Benign/Likely_benign
15	65076978	G	A	G65076978A	KBTBD13	NM_001101362.2(KBTBD13):c.163G>A:p.Ala55Thr	coding	Benign/Likely_benign
15	65076986	T	C	T65076986C	KBTBD13	NM_001101362.2(KBTBD13):c.171T>C:p.Gly57=	coding	Benign/Likely_benign
15	65077003	A	T	A65077003T	KBTBD13	NM_001101362.2(KBTBD13):c.188A>T:p.Gln63Leu	coding	Benign/Likely_benign
15	65077057	C	T	C65077057T	KBTBD13	NM_001101362.2(KBTBD13):c.242C>T:p.Ala81Val	coding	Benign
15	65077061	G	C	G65077061C	KBTBD13	NM_001101362.2(KBTBD13):c.246G>C:p.Val82=	coding	Benign/Likely_benign
15	65077148	C	G	C65077148G	KBTBD13	NM_001101362.2(KBTBD13):c.333C>G:p.Asp111Glu	coding	Benign/Likely_benign
15	65077176	G	A	G65077176A	KBTBD13	NM_001101362.2(KBTBD13):c.361G>A:p.Val121Met	coding	Benign/Likely_benign
15	65077193	G	T	G65077193T	KBTBD13	NM_001101362.2(KBTBD13):c.378G>T:p.Ala126=	coding	Benign
15	65077286	C	T	C65077286T	KBTBD13	NM_001101362.2(KBTBD13):c.471C>T:p.Tyr157=	coding	Benign/Likely_benign
15	65077331	C	G	C65077331G	KBTBD13	NM_001101362.2(KBTBD13):c.516C>G:p.Asp172Glu	coding	Benign/Likely_benign
15	65077557	C	A	C65077557A	KBTBD13	NM_001101362.2(KBTBD13):c.742C>A:p.Arg248Ser	coding	Pathogenic
15	65077566	A	G	A65077566G	KBTBD13	NM_001101362.2(KBTBD13):c.751A>G:p.Thr251Ala	coding	Benign
15	65077609	G	A	G65077609A	KBTBD13	NM_001101362.2(KBTBD13):c.794G>A:p.Gly265Asp	coding	Benign
15	65077613	A	G	A65077613G	KBTBD13	NM_001101362.2(KBTBD13):c.798A>G:p.Glu266=	coding	Benign
15	65077659	G	A	G65077659A	KBTBD13	NM_001101362.2(KBTBD13):c.844G>A:p.Ala282Thr	coding	Benign
15	65077769	C	G	C65077769G	KBTBD13	NM_001101362.2(KBTBD13):c.954C>G:p.Thr318=	coding	Benign
15	65077773	G	T	G65077773T	KBTBD13	NM_001101362.2(KBTBD13):c.958G>T:p.Val320Leu	coding	Benign/Likely_benign
15	65077778	G	A	G65077778A	KBTBD13	NM_001101362.2(KBTBD13):c.963G>A:p.Val321=	coding	Benign/Likely_benign
15	65077796	C	G	C65077796G	KBTBD13	NM_001101362.2(KBTBD13):c.981C>G:p.Thr327=	coding	Benign
15	65077892	A	G	A65077892G	KBTBD13	NM_001101362.2(KBTBD13):c.1077A>G:p.Gly359=	coding	Benign/Likely_benign
15	65077934	C	T	C65077934T	KBTBD13	NM_001101362.2(KBTBD13):c.1119C>T:p.Asn373=	coding	Benign/Likely_benign
15	65077943	G	A	G65077943A	KBTBD13	NM_001101362.2(KBTBD13):c.1128G>A:p.Thr376=	coding	Benign
15	65077985	G	C	G65077985C	KBTBD13	NM_001101362.2(KBTBD13):c.1170G>C:p.Lys390Asn	coding	Pathogenic
15	65078012	C	T	C65078012T	KBTBD13	NM_001101362.2(KBTBD13):c.1197C>T:p.Arg399=	coding	Benign
15	65078015	T	C	T65078015C	KBTBD13	NM_001101362.2(KBTBD13):c.1200T>C:p.Gly400=	coding	Benign
15	65078037	C	T	C65078037T	KBTBD13	NM_001101362.2(KBTBD13):c.1222C>T:p.Arg408Cys	coding	Pathogenic
15	65078041	T	C	T65078041C	KBTBD13	NM_001101362.3(KBTBD13):c.1226T>C:p.Met409Thr	coding	Benign
15	65078047	C	T	C65078047T	KBTBD13	NM_001101362.2(KBTBD13):c.1232C>T:p.Thr411Met	coding	Benign
15	65078178	A	G	A65078178G	KBTBD13	NM_001101362.2(KBTBD13):c.1363A>G:p.Thr455Ala	coding	Benign/Likely_benign
15	65078314	T	C	T65078314C	KBTBD13	NM_001101362.2(KBTBD13):c.*122T>C	noncoding	Benign
15	65078414	G	A	G65078414A	KBTBD13	NM_001101362.3(KBTBD13):c.*222G>A	noncoding	Benign
15	65078497	C	T	C65078497T	KBTBD13	NM_001101362.2(KBTBD13):c.*305C>T	noncoding	Benign
15	65078712	A	G	A65078712G	KBTBD13	NM_001101362.2(KBTBD13):c.*520A>G	noncoding	Benign
15	65079038	G	T	G65079038T	KBTBD13	NM_001101362.2(KBTBD13):c.*846G>T	noncoding	Benign
15	65079089	A	G	A65079089G	KBTBD13	NM_001101362.2(KBTBD13):c.*897A>G	noncoding	Benign
15	65079187	T	C	T65079187C	KBTBD13	NM_001101362.2(KBTBD13):c.*995T>C	noncoding	Benign
15	65079267	C	T	C65079267T	KBTBD13	NM_001101362.2(KBTBD13):c.*1075C>T	noncoding	Benign
15	65079314	C	T	C65079314T	KBTBD13	NM_001101362.2(KBTBD13):c.*1122C>T	noncoding	Benign
15	65079691	T	C	T65079691C	KBTBD13	NM_001101362.2(KBTBD13):c.*1499T>C	noncoding	Benign
15	65079748	G	A	G65079748A	KBTBD13	NM_001101362.2(KBTBD13):c.*1556G>A	noncoding	Benign
15	65079803	G	A	G65079803A	KBTBD13	NM_001101362.2(KBTBD13):c.*1611G>A	noncoding	Benign
15	65079842	T	C	T65079842C	KBTBD13	NM_001101362.2(KBTBD13):c.*1650T>C	noncoding	Benign
15	65197096	G	A	G65197096A	CILP	NM_003613.4(CILP):c.3190C>T:p.Leu1064=	coding	Benign
15	65259416	C	T	C65259416T	PARP16	NM_001316943.2(PARP16):c.960G>A:p.Ala320=	coding	Benign
15	65330578	G	A	G65330578A	IGDCC3	NM_004884.4(IGDCC3):c.1725C>T:p.Thr575=	coding	Benign
15	65333345	C	T	C65333345T	IGDCC3	NM_004884.4(IGDCC3):c.894G>A:p.Thr298=	coding	Benign
15	65334872	G	A	G65334872A	IGDCC3	NM_004884.4(IGDCC3):c.686-7C>T	noncoding	Benign
15	65375352	C	T	C65375352T	IGDCC3	NM_004884.4(IGDCC3):c.154G>A:p.Val52Ile	coding	Benign
15	65385121	C	G	C65385121G	IGDCC4	NM_020962.3(IGDCC4):c.3181-6G>C	noncoding	Benign
15	65622037	T	C	T65622037C	SLC24A1	NM_004727.3(SLC24A1):c.-182T>C	noncoding	Benign
15	65624175	T	A	T65624175A	SLC24A1	NM_004727.3(SLC24A1):c.95T>A:p.Leu32Ter	coding	Pathogenic
15	65624189	A	T	A65624189T	SLC24A1	NM_004727.3(SLC24A1):c.109A>T:p.Thr37Ser	coding	Benign
15	65624252	C	T	C65624252T	SLC24A1	NM_004727.3(SLC24A1):c.172C>T:p.Gln58Ter	coding	Pathogenic
15	65625011	G	C	G65625011C	SLC24A1	NM_004727.3(SLC24A1):c.931G>C:p.Val311Leu	coding	Benign
15	65625017	T	G	T65625017G	SLC24A1	NM_004727.3(SLC24A1):c.937T>G:p.Leu313Val	coding	Benign
15	65625454	C	T	C65625454T	SLC24A1	NM_004727.3(SLC24A1):c.1374C>T:p.His458=	coding	Benign
15	65625568	C	T	C65625568T	SLC24A1	NM_004727.3(SLC24A1):c.1488C>T:p.Gly496=	coding	Benign
15	65625902	G	A	G65625902A	SLC24A1	NM_004727.3(SLC24A1):c.1822G>A:p.Val608Ile	coding	Benign/Likely_benign
15	65625939	C	T	C65625939T	SLC24A1	NM_004727.3(SLC24A1):c.1859C>T:p.Ala620Val	coding	Benign/Likely_benign
15	65650550	G	T	G65650550T	SLC24A1	NM_004727.3(SLC24A1):c.2401G>T:p.Glu801Ter	coding	Pathogenic
15	65650743	A	G	A65650743G	SLC24A1	NM_004727.3(SLC24A1):c.2594A>G:p.Glu865Gly	coding	Benign
15	65652627	G	A	G65652627A	SLC24A1	NM_004727.3(SLC24A1):c.2884-15G>A	noncoding	Benign
15	65652726	A	C	A65652726C	SLC24A1	NM_004727.3(SLC24A1):c.2968A>C:p.Ser990Arg	coding	Pathogenic
15	65654857	C	T	C65654857T	SLC24A1	NM_004727.3(SLC24A1):c.*778C>T	coding	Benign
15	65655278	T	C	T65655278C	SLC24A1	NM_004727.3(SLC24A1):c.*1199T>C	coding	Benign
15	65655697	A	G	A65655697G	SLC24A1	NM_004727.3(SLC24A1):c.*1618A>G	coding	Benign
15	66386581	A	C	A66386581C	MAP2K1	NM_002755.3(MAP2K1):c.-767A>C	noncoding	Benign
15	66386653	A	T	A66386653T	MAP2K1	NM_002755.3(MAP2K1):c.-695A>T	noncoding	Benign
15	66386717	C	T	C66386717T	MAP2K1	NM_002755.3(MAP2K1):c.-631C>T	noncoding	Benign
15	66387346	A	G	A66387346G	MAP2K1	NM_002755.4(MAP2K1):c.-2A>G	noncoding	Benign
15	66435103	T	C	T66435103C	MAP2K1	NM_002755.3(MAP2K1):c.157T>C:p.Phe53Leu	coding	Pathogenic
15	66435104	T	C	T66435104C	MAP2K1	NM_002755.3(MAP2K1):c.158T>C:p.Phe53Ser	coding	Pathogenic
15	66435113	A	C	A66435113C	MAP2K1	NM_002755.4(MAP2K1):c.167A>C:p.Gln56Pro	coding	Pathogenic/Likely_pathogenic
15	66435115	A	G	A66435115G	MAP2K1	NM_002755.4(MAP2K1):c.169A>G:p.Lys57Glu	coding	Pathogenic/Likely_pathogenic
15	66435117	G	T	G66435117T	MAP2K1	NM_002755.4(MAP2K1):c.171G>T:p.Lys57Asn	coding	Pathogenic/Likely_pathogenic
15	66435123	G	A	G66435123A	MAP2K1	NM_002755.3(MAP2K1):c.177G>A:p.Lys59=	coding	Benign
15	66435145	G	A	G66435145A	MAP2K1	NM_002755.4(MAP2K1):c.199G>A:p.Asp67Asn	coding	Pathogenic
15	66435183	C	T	C66435183T	MAP2K1	NM_002755.4(MAP2K1):c.237C>T:p.Gly79=	coding	Benign/Likely_benign
15	66435255	A	T	A66435255T	MAP2K1	NM_002755.3(MAP2K1):c.291+18A>T	noncoding	Benign
15	66435259	G	C	G66435259C	MAP2K1	NM_002755.4(MAP2K1):c.291+22G>C	noncoding	Benign
15	66436613	A	C	A66436613C	MAP2K1	NM_002755.3(MAP2K1):c.292-133A>C	noncoding	Benign
15	66436743	C	T	C66436743T	MAP2K1	NM_002755.3(MAP2K1):c.292-3C>T	noncoding	Benign/Likely_benign
15	66436759	A	G	A66436759G	MAP2K1	NM_002755.3(MAP2K1):c.305A>G:p.Glu102Gly	coding	Pathogenic
15	66436769	C	T	C66436769T	MAP2K1	NM_002755.4(MAP2K1):c.315C>T:p.Pro105=	coding	Benign
15	66436777	G	T	G66436777T	MAP2K1	NM_002755.3(MAP2K1):c.323G>T:p.Arg108Leu	coding	Pathogenic
15	66436786	T	A	T66436786A	MAP2K1	NM_002755.3(MAP2K1):c.332T>A:p.Ile111Asn	coding	Pathogenic
15	66436786	T	G	T66436786G	MAP2K1	NM_002755.3(MAP2K1):c.332T>G:p.Ile111Ser	coding	Pathogenic
15	66436809	C	T	C66436809T	MAP2K1	NM_002755.3(MAP2K1):c.355C>T:p.His119Tyr	coding	Pathogenic
15	66436816	G	C	G66436816C	MAP2K1	NM_002755.3(MAP2K1):c.362G>C:p.Cys121Ser	coding	Pathogenic/Likely_pathogenic
15	66436818	A	G	A66436818G	MAP2K1	NM_002755.4(MAP2K1):c.364A>G:p.Asn122Asp	coding	Pathogenic
15	66436824	C	T	C66436824T	MAP2K1	NM_002755.3(MAP2K1):c.370C>T:p.Pro124Ser	coding	Pathogenic
15	66436825	C	A	C66436825A	MAP2K1	NM_002755.4(MAP2K1):c.371C>A:p.Pro124Gln	coding	Pathogenic/Likely_pathogenic
15	66436825	C	G	C66436825G	MAP2K1	NM_002755.3(MAP2K1):c.371C>G:p.Pro124Arg	coding	Pathogenic
15	66436825	C	T	C66436825T	MAP2K1	NM_002755.4(MAP2K1):c.371C>T:p.Pro124Leu	coding	Pathogenic/Likely_pathogenic
15	66436837	G	T	G66436837T	MAP2K1	NM_002755.4(MAP2K1):c.383G>T:p.Gly128Val	coding	Pathogenic/Likely_pathogenic
15	66436842	T	A	T66436842A	MAP2K1	NM_002755.3(MAP2K1):c.388T>A:p.Tyr130Asn	coding	Pathogenic
15	66436843	A	G	A66436843G	MAP2K1	NM_002755.4(MAP2K1):c.389A>G:p.Tyr130Cys	coding	Pathogenic
15	66436900	A	T	A66436900T	MAP2K1	NM_002755.4(MAP2K1):c.438+8A>T	noncoding	Benign
15	66436912	C	T	C66436912T	MAP2K1	NM_002755.3(MAP2K1):c.438+20C>T	noncoding	Benign
15	66443261	C	A	C66443261A	MAP2K1	NM_002755.3(MAP2K1):c.439-19C>A	noncoding	Benign/Likely_benign
15	66444345	C	A	C66444345A	MAP2K1	NM_002755.3(MAP2K1):c.517-311C>A	noncoding	Benign
15	66444403	C	T	C66444403T	MAP2K1	NM_002755.3(MAP2K1):c.517-253C>T	noncoding	Benign
15	66481637	G	A	G66481637A	MAP2K1	NM_002755.3(MAP2K1):c.569-118G>A	noncoding	Benign
15	66481736	T	A	T66481736A	MAP2K1	NM_002755.3(MAP2K1):c.569-19T>A	noncoding	Benign
15	66481794	A	G	A66481794G	MAP2K1	NM_002755.3(MAP2K1):c.608A>G	coding	Pathogenic
15	66481822	C	T	C66481822T	MAP2K1	NM_002755.3(MAP2K1):c.636C>T:p.Ser212=	coding	Benign/Likely_benign
15	66481834	C	T	C66481834T	MAP2K1	NM_002755.4(MAP2K1):c.648C>T:p.Ile216=	coding	Benign
15	66482154	T	A	T66482154A	MAP2K1	NM_002755.3(MAP2K1):c.693+275T>A	noncoding	Benign
15	66485007	G	A	G66485007A	MAP2K1	NM_002755.4(MAP2K1):c.711G>A:p.Gly237=	coding	Benign
15	66485086	C	T	C66485086T	MAP2K1	NM_002755.3(MAP2K1):c.790C>T:p.Pro264Ser	coding	Pathogenic
15	66485100	C	G	C66485100G	MAP2K1	NM_002755.4(MAP2K1):c.804C>G:p.Ala268=	coding	Benign
15	66485144	C	T	C66485144T	MAP2K1	NM_002755.4(MAP2K1):c.848C>T:p.Ala283Val	coding	Benign
15	66485372	A	G	A66485372G	MAP2K1	NM_002755.3(MAP2K1):c.895+181A>G	noncoding	Benign
15	66486937	G	C	G66486937C	MAP2K1	NM_002755.3(MAP2K1):c.896-291G>C	noncoding	Benign
15	66487259	A	T	A66487259T	MAP2K1	NM_002755.4(MAP2K1):c.927A>T:p.Ala309=	coding	Benign
15	66489710	C	T	C66489710T	MAP2K1	NM_002755.4(MAP2K1):c.1023-8C>T	noncoding	Benign
15	66489782	G	A	G66489782A	MAP2K1	NM_002755.4(MAP2K1):c.1068+19G>A	noncoding	Benign
15	66490486	G	A	G66490486A	MAP2K1	NM_002755.4(MAP2K1):c.1069-16G>A	coding	Benign
15	66490570	C	T	C66490570T	MAP2K1	NM_002755.4(MAP2K1):c.1137C>T:p.Ile379=	coding	Benign
15	66490577	A	C	A66490577C	MAP2K1;SNAPC5	NM_002755.4(MAP2K1):c.1144A>C:p.Asn382His	coding	Pathogenic
15	66505387	C	T	C66505387T	ZWILCH	NM_017975.5(ZWILCH):c.49C>T:p.Leu17Phe	coding	Benign
15	66521041	T	G	T66521041G	ZWILCH	NM_017975.5(ZWILCH):c.592-9T>G	noncoding	Benign
15	66546584	A	G	A66546584G	ZWILCH	NM_017975.5(ZWILCH):c.1688-7A>G	noncoding	Benign
15	66557882	A	T	A66557882T	LCTL	NM_207338.4(LCTL):c.762T>A:p.Gly254=	coding	Benign
15	66564757	G	A	G66564757A	LCTL	NM_207338.4(LCTL):c.201C>T:p.Asp67=	coding	Benign
15	66565276	G	T	G66565276T	LCTL	NM_207338.4(LCTL):c.90C>A:p.Ala30=	coding	Benign
15	66703319	G	A	G66703319A	SMAD6	NM_005585.5(SMAD6):c.61G>A:p.Asp21Asn	coding	Benign
15	66703378	C	A	C66703378A	SMAD6	NM_005585.5(SMAD6):c.120C>A:p.Gly40=	coding	Benign
15	66703378	C	T	C66703378T	SMAD6	NM_005585.5(SMAD6):c.120C>T:p.Gly40=	coding	Benign
15	66703397	C	T	C66703397T	SMAD6	NM_005585.5(SMAD6):c.139C>T:p.Pro47Ser	coding	Benign
15	66703481	C	T	C66703481T	SMAD6	NM_005585.5(SMAD6):c.223C>T:p.Arg75Ter	coding	Pathogenic
15	66703603	G	A	G66703603A	SMAD6	NM_005585.5(SMAD6):c.345G>A:p.Trp115Ter	coding	Pathogenic
15	66703647	C	A	C66703647A	SMAD6	NM_005585.5(SMAD6):c.389C>A:p.Ser130Ter	coding	Pathogenic
15	66703663	C	T	C66703663T	SMAD6	NM_005585.5(SMAD6):c.405C>T:p.Ala135=	coding	Benign
15	66703705	C	T	C66703705T	SMAD6	NM_005585.5(SMAD6):c.447C>T:p.Ala149=	coding	Benign
15	66703969	C	T	C66703969T	SMAD6	NM_005585.5(SMAD6):c.711C>T:p.His237=	coding	Benign
15	66704028	C	T	C66704028T	SMAD6	NM_005585.5(SMAD6):c.770C>T:p.Pro257Leu	coding	Pathogenic
15	66704084	G	C	G66704084C	SMAD6	NM_005585.5(SMAD6):c.817+9G>C	noncoding	Benign
15	66716455	G	A	G66716455A	SMAD6	NM_005585.5(SMAD6):c.909G>A:p.Thr303=	coding	Benign
15	66716489	G	T	G66716489T	SMAD6	NM_005585.5(SMAD6):c.943G>T:p.Glu315Ter	coding	Pathogenic
15	66781128	C	T	C66781128T	SMAD6	NM_005585.5(SMAD6):c.1084C>T:p.Gln362Ter	coding	Pathogenic
15	66781211	C	T	C66781211T	SMAD6	NM_005585.5(SMAD6):c.1167C>T:p.Phe389=	coding	Benign
15	66781288	C	T	C66781288T	SMAD6	NM_005585.5(SMAD6):c.1244C>T:p.Pro415Leu	coding	Pathogenic
15	66781403	C	T	C66781403T	SMAD6	NM_005585.5(SMAD6):c.1359C>T:p.Asp453=	coding	Benign
15	66781495	G	T	G66781495T	SMAD6	NM_005585.5(SMAD6):c.1451G>T:p.Cys484Phe	coding	Pathogenic
15	67066127	C	T	C67066127T	SMAD3	NM_005902.4(SMAD3):c.-28C>T	noncoding	Benign
15	67066132	C	T	C67066132T	SMAD3	NM_005902.4(SMAD3):c.-23C>T	noncoding	Benign
15	67066140	G	A	G67066140A	SMAD3	NM_005902.4(SMAD3):c.-15G>A	noncoding	Benign
15	67066159	C	A	C67066159A	SMAD3	NM_005902.4(SMAD3):c.5C>A:p.Ser2Ter	coding	Pathogenic/Likely_pathogenic
15	67066220	G	A	G67066220A	SMAD3	NM_005902.4(SMAD3):c.66G>A:p.Glu22=	coding	Benign/Likely_benign
15	67066236	G	T	G67066236T	SMAD3	NM_005902.4(SMAD3):c.82G>T:p.Glu28Ter	coding	Pathogenic
15	67066308	G	T	G67066308T	SMAD3	NM_005902.4(SMAD3):c.154G>T:p.Glu52Ter	coding	Pathogenic
15	67125964	G	A	G67125964A	SMAD3	NM_005902.4(SMAD3):c.207-38931G>A	coding	Benign
15	67137885	T	C	T67137885C	SMAD3	NM_005902.4(SMAD3):c.207-27010T>C	noncoding	Benign
15	67138116	C	T	C67138116T	SMAD3	NM_005902.4(SMAD3):c.207-26779C>T	noncoding	Benign
15	67138214	T	C	T67138214C	SMAD3	NM_005902.4(SMAD3):c.207-26681T>C	noncoding	Benign
15	67138395	T	C	T67138395C	SMAD3	NM_005902.4(SMAD3):c.207-26500T>C	noncoding	Benign
15	67150258	C	T	C67150258T	SMAD3	NM_005902.4(SMAD3):c.207-14637C>T	noncoding	Benign
15	67164882	C	T	C67164882T	SMAD3	NM_005902.4(SMAD3):c.207-13C>T	noncoding	Benign/Likely_benign
15	67164965	C	T	C67164965T	SMAD3	NM_005902.4(SMAD3):c.277C>T:p.Arg93Ter	coding	Pathogenic/Likely_pathogenic
15	67164997	A	G	A67164997G	SMAD3	NM_005902.4(SMAD3):c.309A>G:p.Leu103=	coding	Benign
15	67165147	G	C	G67165147C	SMAD3	NM_005902.4(SMAD3):c.400+59G>C	noncoding	Benign
15	67165247	G	A	G67165247A	SMAD3	NM_005902.4(SMAD3):c.401-6G>A	noncoding	Pathogenic
15	67165309	C	T	C67165309T	SMAD3	NM_005902.4(SMAD3):c.457C>T:p.Leu153=	coding	Benign/Likely_benign
15	67165335	C	T	C67165335T	SMAD3	NM_005902.4(SMAD3):c.483C>T:p.Pro161=	coding	Benign/Likely_benign
15	67165360	A	G	A67165360G	SMAD3	NM_005902.4(SMAD3):c.508A>G:p.Ile170Val	coding	Benign/Likely_benign
15	67166190	G	A	G67166190A	SMAD3	NM_005902.4(SMAD3):c.533-589G>A	coding	Benign
15	67166592	C	T	C67166592T	SMAD3	NM_005902.4(SMAD3):c.533-187C>T	noncoding	Benign
15	67166798	C	G	C67166798G	SMAD3	NM_005902.4(SMAD3):c.552C>G:p.Tyr184Ter	coding	Pathogenic
15	67181364	C	T	C67181364T	SMAD3	NM_005902.4(SMAD3):c.782C>T:p.Thr261Ile	coding	Pathogenic
15	67181379	C	A	C67181379A	SMAD3	NM_005902.4(SMAD3):c.797C>A:p.Ser266Ter	coding	Pathogenic
15	67181418	G	A	G67181418A	SMAD3	NM_005902.4(SMAD3):c.836G>A:p.Arg279Lys	coding	Pathogenic
15	67181441	C	T	C67181441T	SMAD3	NM_005902.4(SMAD3):c.859C>T:p.Arg287Trp	coding	Pathogenic/Likely_pathogenic
15	67181442	G	A	G67181442A	SMAD3	NM_005902.4(SMAD3):c.860G>A:p.Arg287Gln	coding	Pathogenic/Likely_pathogenic
15	67181452	C	T	C67181452T	SMAD3	NM_005902.4(SMAD3):c.870C>T:p.Ile290=	coding	Benign/Likely_benign
15	67181453	G	T	G67181453T	SMAD3	NM_005902.4(SMAD3):c.871G>T:p.Gly291Ter	coding	Pathogenic
15	67181454	G	A	G67181454A	SMAD3	NM_005902.4(SMAD3):c.871+1G>A	coding	Pathogenic
15	67184397	G	A	G67184397A	SMAD3	NM_005902.4(SMAD3):c.872-330G>A	noncoding	Benign
15	67184418	C	T	C67184418T	SMAD3	NM_005902.4(SMAD3):c.872-309C>T	noncoding	Benign
15	67184430	C	T	C67184430T	SMAD3	NM_005902.4(SMAD3):c.872-297C>T	noncoding	Benign
15	67184614	G	T	G67184614T	SMAD3	NM_005902.4(SMAD3):c.872-113G>T	noncoding	Benign
15	67184632	T	C	T67184632C	SMAD3	NM_005902.4(SMAD3):c.872-95T>C	noncoding	Benign
15	67184801	C	T	C67184801T	SMAD3	NM_005902.4(SMAD3):c.946C>T:p.Gln316Ter	coding	Pathogenic
15	67184864	G	T	G67184864T	SMAD3	NM_005902.4(SMAD3):c.1009G>T:p.Gly337Ter	coding	Pathogenic
15	67184871	G	A	G67184871A	SMAD3	NM_005902.4(SMAD3):c.1009+7G>A	noncoding	Benign/Likely_benign
15	67184933	G	C	G67184933C	SMAD3	NM_005902.4(SMAD3):c.1009+69G>C	noncoding	Benign
15	67187436	G	T	G67187436T	SMAD3	NM_005902.4(SMAD3):c.1081G>T:p.Glu361Ter	coding	Pathogenic
15	67187457	C	T	C67187457T	SMAD3	NM_005902.4(SMAD3):c.1102C>T:p.Arg368Ter	coding	Pathogenic
15	67190938	C	T	C67190938T	SMAD3	NM_005902.4(SMAD3):c.*402C>T	noncoding	Benign
15	67191641	G	A	G67191641A	SMAD3	NM_005902.4(SMAD3):c.*1105G>A	noncoding	Benign
15	67191781	G	A	G67191781A	SMAD3	NM_005902.4(SMAD3):c.*1245G>A	noncoding	Benign
15	67191959	C	T	C67191959T	SMAD3	NM_005902.4(SMAD3):c.*1423C>T	noncoding	Benign
15	67192763	G	A	G67192763A	SMAD3	NM_005902.4(SMAD3):c.*2227G>A	noncoding	Benign
15	67192818	C	T	C67192818T	SMAD3	NM_005902.4(SMAD3):c.*2282C>T	noncoding	Benign
15	67193329	C	T	C67193329T	SMAD3	NM_005902.4(SMAD3):c.*2793C>T	noncoding	Benign
15	67194048	A	G	A67194048G	SMAD3	NM_005902.4(SMAD3):c.*3512A>G	noncoding	Benign
15	67194255	C	T	C67194255T	SMAD3	NM_005902.4(SMAD3):c.*3719C>T	noncoding	Benign
15	67203547	C	T	C67203547T	AAGAB	NM_001271885.1(AAGAB):c.543+1G>A	noncoding	Pathogenic
15	67208595	T	C	T67208595C	AAGAB	NM_024666.5(AAGAB):c.682A>G:p.Asn228Asp	coding	Benign
15	67208608	C	T	C67208608T	AAGAB	NM_024666.5(AAGAB):c.669G>A:p.Arg223=	coding	Benign
15	67231868	G	A	G67231868A	AAGAB	NM_001271885.1(AAGAB):c.154C>T:p.Arg52Ter	coding	Pathogenic
15	67236022	A	G	A67236022G	AAGAB	NM_024666.5(AAGAB):c.408T>C:p.Phe136=	coding	Benign
15	67236036	T	G	T67236036G	AAGAB	NM_024666.5(AAGAB):c.394A>C:p.Ile132Leu	coding	Benign
15	67236060	G	A	G67236060A	AAGAB	NM_024666.5(AAGAB):c.370C>T:p.Arg124Ter	coding	Pathogenic
15	67236440	A	T	A67236440T	AAGAB	NM_024666.5(AAGAB):c.329T>A:p.Met110Lys	coding	Benign
15	67236455	C	T	C67236455T	AAGAB	NM_024666.5(AAGAB):c.314G>A:p.Trp105Ter	coding	Pathogenic
15	67236780	G	A	G67236780A	AAGAB	NM_024666.5(AAGAB):c.114C>T:p.Ser38=	coding	Benign
15	67254571	G	A	G67254571A	AAGAB	NM_001271885.1(AAGAB):c.-255+566C>T	coding	Pathogenic
15	67254631	T	C	T67254631C	AAGAB	NM_024666.5(AAGAB):c.1A>G:p.Met1Val	coding	Pathogenic
15	67254917	C	T	C67254917T	IQCH	NM_001031715.3(IQCH):c.21C>T:p.Asn7=	coding	Benign
15	67372272	C	T	C67372272T	IQCH	NM_001031715.3(IQCH):c.915C>T:p.Val305=	coding	Benign
15	67400108	T	G	T67400108G	IQCH	NM_001031715.3(IQCH):c.1906-6T>G	noncoding	Benign
15	67550089	C	T	C67550089T	MAP2K5	NM_145160.3(MAP2K5):c.184+7C>T	noncoding	Benign
15	67646223	A	G	A67646223G	MAP2K5	NM_145160.3(MAP2K5):c.586-8A>G	noncoding	Benign
15	67692480	C	T	C67692480T	MAP2K5	NM_145160.3(MAP2K5):c.849C>T:p.Asp283=	coding	Benign
15	68086359	C	T	C68086359T	PIAS1	NM_016166.2(PIAS1):c.78C>T:p.Ala26=	coding	Benign
15	68086518	C	T	C68086518T	PIAS1	NM_016166.2(PIAS1):c.237C>T:p.Asn79=	coding	Benign
15	68086677	C	G	C68086677G	PIAS1	NM_016166.2(PIAS1):c.396C>G:p.Val132=	coding	Benign
15	68206983	T	C	T68206983C	CLN6	NM_017882.2(CLN6):c.*1157A>G	noncoding	Benign
15	68207125	A	G	A68207125G	CLN6	NM_017882.3(CLN6):c.*1015T>C	noncoding	Benign
15	68207323	G	A	G68207323A	CLN6	NM_017882.3(CLN6):c.*817C>T	noncoding	Benign
15	68207415	G	A	G68207415A	CLN6	NM_017882.3(CLN6):c.*725C>T	noncoding	Benign
15	68207450	T	C	T68207450C	CLN6	NM_017882.3(CLN6):c.*690A>G	noncoding	Benign
15	68207473	C	T	C68207473T	CLN6	NM_017882.3(CLN6):c.*667G>A	noncoding	Benign
15	68208236	C	T	C68208236T	CLN6	NM_017882.3(CLN6):c.840G>A:p.Leu280=	coding	Benign/Likely_benign
15	68208307	T	C	T68208307C	CLN6	NM_017882.3(CLN6):c.769A>G:p.Ser257Gly	coding	Benign/Likely_benign
15	68208407	G	C	G68208407C	CLN6	NM_017882.3(CLN6):c.669C>G:p.Tyr223Ter	coding	Pathogenic
15	68209372	C	T	C68209372T	CLN6	NM_017882.3(CLN6):c.665+265G>A	noncoding	Benign
15	68209636	C	T	C68209636T	CLN6	NM_017882.3(CLN6):c.665+1G>A	noncoding	Pathogenic
15	68209639	G	C	G68209639C	CLN6	NM_017882.3(CLN6):c.663C>G:p.Tyr221Ter	coding	Pathogenic
15	68211258	C	A	C68211258A	CLN6	NM_017882.3(CLN6):c.542+5G>T	noncoding	Pathogenic
15	68211263	C	T	C68211263T	CLN6	NM_017882.3(CLN6):c.542G>A:p.Trp181Ter	coding	Pathogenic
15	68211326	A	G	A68211326G	CLN6	NM_017882.3(CLN6):c.487-8T>C	noncoding	Benign
15	68211624	G	A	G68211624A	CLN6	NM_017882.3(CLN6):c.486+51C>T	noncoding	Benign
15	68211673	A	G	A68211673G	CLN6	NM_017882.3(CLN6):c.486+2T>C	noncoding	Pathogenic
15	68211685	G	A	G68211685A	CLN6	NM_017882.3(CLN6):c.476C>T:p.Pro159Leu	coding	Pathogenic/Likely_pathogenic
15	68211793	C	T	C68211793T	CLN6	NM_017882.3(CLN6):c.368G>A:p.Gly123Asp	coding	Pathogenic
15	68211869	G	A	G68211869A	CLN6	NM_017882.3(CLN6):c.298-6C>T	noncoding	Benign
15	68212059	T	C	T68212059C	CLN6	NM_017882.3(CLN6):c.298-196A>G	noncoding	Benign
15	68212111	C	T	C68212111T	CLN6	NM_017882.3(CLN6):c.298-248G>A	noncoding	Benign
15	68214289	C	T	C68214289T	CLN6	NM_017882.3(CLN6):c.297+1G>A	noncoding	Pathogenic
15	68214337	A	T	A68214337T	CLN6	NM_017882.3(CLN6):c.250T>A:p.Tyr84Asn	coding	Pathogenic
15	68214373	C	A	C68214373A	CLN6	NM_017882.3(CLN6):c.214G>T:p.Glu72Ter	coding	Pathogenic
15	68214373	C	G	C68214373G	CLN6	NM_017882.3(CLN6):c.214G>C:p.Glu72Gln	coding	Benign/Likely_benign
15	68214387	A	G	A68214387G	CLN6	NM_017882.3(CLN6):c.200T>C:p.Leu67Pro	coding	Pathogenic
15	68214640	T	G	T68214640G	CLN6	NM_017882.3(CLN6):c.199-252A>C	noncoding	Benign
15	68218355	T	C	T68218355C	CLN6	NM_017882.3(CLN6):c.198+181A>G	noncoding	Benign
15	68218432	A	G	A68218432G	CLN6	NM_017882.3(CLN6):c.198+104T>C	noncoding	Benign
15	68218535	C	T	C68218535T	CLN6	NM_017882.3(CLN6):c.198+1G>A	noncoding	Pathogenic
15	68218549	C	T	C68218549T	CLN6	NM_017882.3(CLN6):c.185G>A:p.Arg62His	coding	Pathogenic
15	68218584	G	C	G68218584C	CLN6	NM_017882.3(CLN6):c.150C>G:p.Tyr50Ter	coding	Pathogenic/Likely_pathogenic
15	68218599	G	A	G68218599A	CLN6	NM_017882.3(CLN6):c.135C>T:p.Leu45=	coding	Benign/Likely_benign
15	68218668	G	A	G68218668A	CLN6	NM_017882.3(CLN6):c.84-18C>T	noncoding	Benign
15	68229467	G	C	G68229467C	CLN6	NM_017882.3(CLN6):c.83+35C>G	noncoding	Benign
15	68229502	C	T	C68229502T	CLN6	NM_017882.3(CLN6):c.83G>A:p.Arg28Lys	coding	Pathogenic
15	68229521	C	A	C68229521A	CLN6	NM_017882.3(CLN6):c.64G>T:p.Ala22Ser	coding	Benign/Likely_benign
15	68229522	G	A	G68229522A	CLN6	NM_017882.3(CLN6):c.63C>T:p.Gly21=	coding	Benign
15	68229568	C	G	C68229568G	CLN6	NM_017882.3(CLN6):c.17G>C:p.Arg6Thr	coding	Pathogenic
15	68278456	C	T	C68278456T	FEM1B	NM_015322.5(FEM1B):c.39C>T:p.Ser13=	coding	Benign
15	68335734	C	T	C68335734T	ITGA11	NM_001004439.2(ITGA11):c.1388G>A:p.Arg463Gln	coding	Benign
15	68339615	G	C	G68339615C	ITGA11	NM_001004439.2(ITGA11):c.1161C>G:p.Ala387=	coding	Benign
15	68780122	G	T	G68780122T	ANP32A	NM_006305.4(ANP32A):c.709C>A:p.Arg237=	coding	Benign
15	68787929	G	C	G68787929C	ANP32A	NM_006305.4(ANP32A):c.55-10C>G	noncoding	Benign
15	69028330	A	T	A69028330T	NOX5	NM_024505.4(NOX5):c.290A>T:p.Lys97Ile	coding	Benign
15	69035394	C	T	C69035394T	NOX5	NM_024505.4(NOX5):c.896C>T:p.Thr299Met	coding	Benign
15	69035397	G	A	G69035397A	NOX5	NM_024505.4(NOX5):c.899G>A:p.Trp300Ter	coding	Benign
15	69047918	A	G	A69047918G	NOX5	NM_024505.4(NOX5):c.1899+7A>G	noncoding	Benign
15	69056673	A	G	A69056673G	NOX5	NM_024505.4(NOX5):c.2275A>G:p.Arg759Gly	coding	Benign
15	69256054	A	G	A69256054G	GLCE	NM_015554.3(GLCE):c.248A>G:p.Lys83Arg	coding	Benign
15	69268521	C	G	C69268521G	GLCE	NM_015554.3(GLCE):c.1131C>G:p.Pro377=	coding	Benign
15	69416069	G	A	G69416069A	KIF23	NM_138555.4(KIF23):c.81+6G>A	noncoding	Benign
15	69417444	A	G	A69417444G	KIF23	NM_138555.4(KIF23):c.143A>G:p.Asn48Ser	coding	Benign
15	69421666	A	G	A69421666G	KIF23	NM_138555.4(KIF23):c.230A>G:p.Gln77Arg	coding	Benign
15	69421729	A	G	A69421729G	KIF23	NM_138555.4(KIF23):c.293A>G:p.Asn98Ser	coding	Benign
15	69422008	T	C	T69422008C	KIF23	NM_138555.4(KIF23):c.333T>C:p.Tyr111=	coding	Benign
15	69423149	C	T	C69423149T	KIF23	NM_138555.4(KIF23):c.564-10C>T	noncoding	Benign
15	69423285	A	G	A69423285G	KIF23	NM_138555.4(KIF23):c.690A>G:p.Ile230Met	coding	Benign
15	69423294	A	G	A69423294G	KIF23	NM_138555.4(KIF23):c.699A>G:p.Leu233=	coding	Benign
15	69435722	G	A	G69435722A	KIF23	NM_138555.4(KIF23):c.1223G>A:p.Arg408Gln	coding	Benign
15	69445011	C	T	C69445011T	KIF23	NM_138555.4(KIF23):c.2601C>T:p.Ser867=	coding	Benign
15	70050190	C	T	C70050190T	TLE3	NM_001105192.3(TLE3):c.2217G>A:p.Ser739=	coding	Benign
15	70053353	A	G	A70053353G	TLE3	NM_001105192.3(TLE3):c.1848T>C:p.Asp616=	coding	Benign
15	70053356	T	C	T70053356C	TLE3	NM_001105192.3(TLE3):c.1845A>G:p.Thr615=	coding	Benign
15	70054512	G	A	G70054512A	TLE3	NM_001105192.3(TLE3):c.1752C>T:p.Asp584=	coding	Benign
15	70668226	T	C	T70668226C	UACA	NM_018003.4(UACA):c.2458A>G:p.Ile820Val	coding	Benign
15	70668391	T	G	T70668391G	UACA	NM_018003.4(UACA):c.2293A>C:p.Asn765His	coding	Benign
15	70836352	G	A	G70836352A	LARP6	NM_018357.4(LARP6):c.354C>T:p.His118=	coding	Benign
15	71728732	T	C	T71728732C	THSD4	NM_024817.2(THSD4):c.1533+8T>C	noncoding	Benign
15	71810819	A	C	A71810819C	NR2E3	NM_014249.4(NR2E3):c.76A>C:p.Lys26Gln	coding	Benign
15	71810838	G	A	G71810838A	NR2E3	NM_014249.4(NR2E3):c.95G>A:p.Trp32Ter	coding	Pathogenic
15	71811481	A	C	A71811481C	NR2E3	NM_014249.4(NR2E3):c.119-2A>C	noncoding	Pathogenic/Likely_pathogenic
15	71811530	G	A	G71811530A	NR2E3	NM_014249.4(NR2E3):c.166G>A:p.Gly56Arg	coding	Pathogenic/Likely_pathogenic
15	71811590	C	T	C71811590T	NR2E3	NM_014249.4(NR2E3):c.226C>T:p.Arg76Trp	coding	Pathogenic
15	71811617	C	T	C71811617T	NR2E3	NM_014249.4(NR2E3):c.245+8C>T	noncoding	Benign/Likely_benign
15	71811783	G	T	G71811783T	NR2E3	NM_014249.4(NR2E3):c.263G>T:p.Gly88Val	coding	Pathogenic
15	71811810	G	A	G71811810A	NR2E3	NM_014249.4(NR2E3):c.290G>A:p.Arg97His	coding	Pathogenic
15	71811821	C	T	C71811821T	NR2E3	NM_014249.4(NR2E3):c.301C>T:p.Gln101Ter	coding	Pathogenic
15	71811829	C	A	C71811829A	NR2E3	NM_014249.4(NR2E3):c.309C>A:p.Cys103Ter	coding	Pathogenic
15	71811830	C	T	C71811830T	NR2E3	NM_014249.4(NR2E3):c.310C>T:p.Arg104Trp	coding	Pathogenic
15	71811831	G	A	G71811831A	NR2E3	NM_014249.4(NR2E3):c.311G>A:p.Arg104Gln	coding	Pathogenic/Likely_pathogenic
15	71811848	C	T	C71811848T	NR2E3	NM_014249.4(NR2E3):c.328C>T:p.Gln110Ter	coding	Pathogenic
15	71811853	G	A	G71811853A	NR2E3	NM_014249.4(NR2E3):c.333G>A:p.Ala111=	coding	Benign/Likely_benign
15	71811966	G	A	G71811966A	NR2E3	NM_014249.4(NR2E3):c.361G>A:p.Glu121Lys	coding	Benign/Likely_benign
15	71812011	G	T	G71812011T	NR2E3	NM_014249.4(NR2E3):c.406G>T:p.Glu136Ter	coding	Pathogenic/Likely_pathogenic
15	71812024	A	G	A71812024G	NR2E3	NM_014249.4(NR2E3):c.419A>G:p.Glu140Gly	coding	Benign/Likely_benign
15	71812093	T	C	T71812093C	NR2E3	NM_014249.4(NR2E3):c.488T>C:p.Met163Thr	coding	Benign/Likely_benign
15	71812168	C	G	C71812168G	NR2E3	NM_014249.4(NR2E3):c.563C>G:p.Pro188Arg	coding	Pathogenic
15	71812458	G	A	G71812458A	NR2E3	NM_014249.4(NR2E3):c.694G>A:p.Val232Ile	coding	Benign/Likely_benign
15	71812512	G	C	G71812512C	NR2E3	NM_014249.4(NR2E3):c.747+1G>C	coding	Pathogenic
15	71813408	C	A	C71813408A	NR2E3	NM_014249.4(NR2E3):c.767C>A:p.Ala256Glu	coding	Pathogenic
15	71813445	G	A	G71813445A	NR2E3	NM_014249.4(NR2E3):c.804G>A:p.Trp268Ter	coding	Pathogenic
15	71813505	T	A	T71813505A	NR2E3	NM_014249.4(NR2E3):c.864T>A:p.Gly288=	coding	Benign/Likely_benign
15	71813545	G	A	G71813545A	NR2E3	NM_014249.4(NR2E3):c.904G>A:p.Val302Ile	coding	Benign
15	71813573	G	A	G71813573A	NR2E3	NM_014249.4(NR2E3):c.932G>A:p.Arg311Gln	coding	Pathogenic/Likely_pathogenic
15	71813607	C	T	C71813607T	NR2E3	NM_014249.4(NR2E3):c.966C>T:p.Cys322=	coding	Benign
15	71813635	G	C	G71813635C	NR2E3	NM_014249.4(NR2E3):c.994G>C:p.Glu332Gln	coding	Pathogenic
15	71814022	C	A	C71814022A	NR2E3	NM_014249.4(NR2E3):c.1005C>A:p.Gly335=	coding	Benign
15	71814055	G	C	G71814055C	NR2E3	NM_014249.4(NR2E3):c.1038G>C:p.Gln346His	coding	Pathogenic
15	71814112	C	T	C71814112T	NR2E3	NM_014249.4(NR2E3):c.1095C>T:p.Pro365=	coding	Benign
15	71818251	C	A	C71818251A	NR2E3	NM_014249.4(NR2E3):c.*567C>A	noncoding	Benign/Likely_benign
15	71826716	T	G	T71826716G	MYO9A	NM_006901.4(MYO9A):c.7511A>C:p.Asn2504Thr	coding	Benign
15	71851302	A	T	A71851302T	MYO9A	NM_006901.4(MYO9A):c.6532T>A:p.Ser2178Thr	coding	Benign
15	71852181	G	C	G71852181C	MYO9A	NM_006901.4(MYO9A):c.6426C>G:p.Pro2142=	coding	Benign
15	71854387	A	T	A71854387T	MYO9A	NM_006901.4(MYO9A):c.6336T>A:p.Gly2112=	coding	Benign
15	71880404	T	C	T71880404C	MYO9A	NM_006901.4(MYO9A):c.5553A>G:p.Gln1851=	coding	Benign
15	71880437	A	G	A71880437G	MYO9A	NM_006901.4(MYO9A):c.5520T>C:p.Ile1840=	coding	Benign
15	71883609	G	A	G71883609A	MYO9A	NM_006901.4(MYO9A):c.5383C>T:p.His1795Tyr	coding	Benign
15	71893728	T	C	T71893728C	MYO9A	NM_006901.4(MYO9A):c.5093A>G:p.Asp1698Gly	coding	Pathogenic
15	71897667	G	A	G71897667A	MYO9A	NM_006901.4(MYO9A):c.4836C>T:p.Cys1612=	coding	Benign
15	71897953	C	T	C71897953T	MYO9A	NM_006901.4(MYO9A):c.4550G>A:p.Arg1517His	coding	Pathogenic
15	71898076	G	C	G71898076C	MYO9A	NM_006901.4(MYO9A):c.4427C>G:p.Pro1476Arg	coding	Benign
15	71899958	C	T	C71899958T	MYO9A	NM_006901.4(MYO9A):c.3199G>A:p.Val1067Met	coding	Benign
15	71903037	A	T	A71903037T	MYO9A	NM_006901.4(MYO9A):c.2904T>A:p.Leu968=	coding	Benign
15	71904019	A	G	A71904019G	MYO9A	NM_006901.4(MYO9A):c.2787T>C:p.Asp929=	coding	Benign
15	71938927	C	T	C71938927T	MYO9A	NM_006901.4(MYO9A):c.2303G>A:p.Ser768Asn	coding	Benign
15	71951858	T	C	T71951858C	MYO9A	NM_006901.4(MYO9A):c.2221A>G:p.Met741Val	coding	Benign
15	71967981	G	T	G71967981T	MYO9A	NM_006901.4(MYO9A):c.1986+3C>A	noncoding	Benign
15	71994541	G	T	G71994541T	MYO9A	NM_006901.4(MYO9A):c.1515C>A:p.Ala505=	coding	Benign
15	72045802	G	A	G72045802A	MYO9A	NM_006901.4(MYO9A):c.762C>T:p.His254=	coding	Benign
15	72046082	G	A	G72046082A	MYO9A	NM_006901.4(MYO9A):c.482C>T:p.Thr161Ile	coding	Benign
15	72046414	T	G	T72046414G	MYO9A	NM_006901.4(MYO9A):c.150A>C:p.Ile50=	coding	Benign
15	72208731	C	T	C72208731T	PKM	NM_002654.6(PKM):c.726G>A:p.Ala242=	coding	Benign
15	72208850	A	G	A72208850G	PKM	NM_002654.6(PKM):c.607T>C:p.Leu203=	coding	Benign
15	72209800	G	A	G72209800A	PKM	NM_002654.6(PKM):c.438C>T:p.Asn146=	coding	Benign
15	72209809	C	T	C72209809T	PKM	NM_002654.6(PKM):c.429G>A:p.Thr143=	coding	Benign
15	72288458	G	A	G72288458A	CELF6	NM_052840.5(CELF6):c.1175-7C>T	noncoding	Benign
15	72319756	A	G	A72319756G	CELF6	NM_052840.5(CELF6):c.119T>C:p.Met40Thr	coding	Benign
15	72319783	C	A	C72319783A	CELF6	NM_052840.5(CELF6):c.92G>T:p.Gly31Val	coding	Benign
15	72343488	A	C	A72343488C	HEXA	NM_000520.6(HEXA):c.*589T>G	noncoding	Benign
15	72343562	C	T	C72343562T	HEXA	NM_000520.6(HEXA):c.*515G>A	noncoding	Benign
15	72344139	G	A	G72344139A	HEXA	NM_000520.6(HEXA):c.1528C>T:p.Arg510Ter	coding	Pathogenic/Likely_pathogenic
15	72345367	T	C	T72345367C	HEXA	NM_000520.6(HEXA):c.1526+79A>G	noncoding	Benign
15	72345454	T	C	T72345454C	HEXA	NM_000520.6(HEXA):c.1518A>G:p.Glu506=	coding	Benign
15	72345461	C	T	C72345461T	HEXA	NM_000520.6(HEXA):c.1511G>A:p.Arg504His	coding	Pathogenic/Likely_pathogenic
15	72345462	G	A	G72345462A	HEXA	NM_000520.6(HEXA):c.1510C>T:p.Arg504Cys	coding	Pathogenic/Likely_pathogenic
15	72345476	C	T	C72345476T	HEXA	NM_000520.6(HEXA):c.1496G>A:p.Arg499His	coding	Pathogenic
15	72345477	G	A	G72345477A	HEXA	NM_000520.6(HEXA):c.1495C>T:p.Arg499Cys	coding	Pathogenic/Likely_pathogenic
15	72345518	C	T	C72345518T	HEXA	NM_000520.6(HEXA):c.1454G>A:p.Trp485Ter	coding	Pathogenic
15	72345528	C	A	C72345528A	HEXA	NM_000520.6(HEXA):c.1444G>T:p.Glu482Ter	coding	Pathogenic
15	72345540	C	T	C72345540T	HEXA	NM_000520.6(HEXA):c.1432G>A:p.Gly478Arg	coding	Pathogenic
15	72345550	C	G	C72345550G	HEXA	NM_000520.6(HEXA):c.1422G>C:p.Trp474Cys	coding	Pathogenic
15	72345787	T	C	T72345787C	HEXA	NM_000520.6(HEXA):c.1422-237A>G	noncoding	Benign
15	72346234	C	G	C72346234G	HEXA	NM_000520.6(HEXA):c.1421+1G>C	noncoding	Pathogenic
15	72346271	T	A	T72346271A	HEXA	NM_000520.6(HEXA):c.1385A>T:p.Glu462Val	coding	Pathogenic
15	72346296	C	T	C72346296T	HEXA	NM_000520.6(HEXA):c.1360G>A:p.Gly454Ser	coding	Pathogenic
15	72346371	C	T	C72346371T	HEXA	NM_000520.6(HEXA):c.1331-46G>A	noncoding	Benign
15	72346526	C	T	C72346526T	HEXA	NM_000520.6(HEXA):c.1330+1G>A	noncoding	Pathogenic
15	72346551	T	C	T72346551C	HEXA	NM_000520.6(HEXA):c.1306A>G:p.Ile436Val	coding	Benign
15	72346597	C	G	C72346597G	HEXA	NM_000520.6(HEXA):c.1260G>C:p.Trp420Cys	coding	Pathogenic
15	72346662	T	C	T72346662C	HEXA	NM_000520.6(HEXA):c.1195A>G:p.Asn399Asp	coding	Benign/Likely_benign
15	72346679	C	G	C72346679G	HEXA	NM_000520.6(HEXA):c.1178G>C:p.Arg393Pro	coding	Pathogenic
15	72346680	G	A	G72346680A	HEXA	NM_000520.6(HEXA):c.1177C>T:p.Arg393Ter	coding	Pathogenic
15	72346681	C	T	C72346681T	HEXA	NM_000520.6(HEXA):c.1176G>A:p.Trp392Ter	coding	Pathogenic
15	72346689	G	A	G72346689A	HEXA	NM_000520.6(HEXA):c.1168C>T:p.Gln390Ter	coding	Pathogenic/Likely_pathogenic
15	72347678	C	T	C72347678T	HEXA	NM_000520.6(HEXA):c.1146+8G>A	noncoding	Benign/Likely_benign
15	72347711	T	G	T72347711G	HEXA	NM_000520.6(HEXA):c.1121A>C:p.Gln374Pro	coding	Pathogenic
15	72347801	G	C	G72347801C	HEXA	NM_000520.6(HEXA):c.1074-43C>G	noncoding	Benign
15	72348047	C	T	C72348047T	HEXA	NM_000520.6(HEXA):c.1073+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	72348134	C	T	C72348134T	HEXA	NM_000520.6(HEXA):c.987G>A:p.Trp329Ter	coding	Pathogenic
15	72349076	T	C	T72349076C	HEXA	NM_000520.6(HEXA):c.986+3A>G	noncoding	Pathogenic/Likely_pathogenic
15	72349093	A	T	A72349093T	HEXA	NM_000520.6(HEXA):c.972T>A:p.Val324=	coding	Pathogenic
15	72349101	C	A	C72349101A	HEXA	NM_000520.6(HEXA):c.964G>T:p.Asp322Tyr	coding	Pathogenic/Likely_pathogenic
15	72349307	C	A	C72349307A	HEXA	NM_000520.6(HEXA):c.806-48G>T	noncoding	Benign
15	72350517	C	G	C72350517G	HEXA	NM_000520.6(HEXA):c.805+1G>C	noncoding	Pathogenic
15	72350517	C	T	C72350517T	HEXA	NM_000520.6(HEXA):c.805+1G>A	noncoding	Pathogenic
15	72350518	C	T	C72350518T	HEXA	NM_000520.6(HEXA):c.805G>A:p.Gly269Ser	coding	Pathogenic/Likely_pathogenic
15	72350551	C	G	C72350551G	HEXA	NM_000520.6(HEXA):c.772G>C:p.Asp258His	coding	Pathogenic
15	72350564	C	T	C72350564T	HEXA	NM_000520.6(HEXA):c.759G>A:p.Val253=	coding	Benign/Likely_benign
15	72350574	C	T	C72350574T	HEXA	NM_000520.6(HEXA):c.749G>A:p.Gly250Asp	coding	Pathogenic
15	72350614	G	A	G72350614A	HEXA	NM_000520.6(HEXA):c.709C>T:p.Gln237Ter	coding	Pathogenic/Likely_pathogenic
15	72351103	A	C	A72351103C	HEXA	NM_000520.6(HEXA):c.672+30T>G	noncoding	Benign
15	72351132	C	T	C72351132T	HEXA	NM_000520.6(HEXA):c.672+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	72351173	A	G	A72351173G	HEXA	NM_000520.6(HEXA):c.632T>C:p.Phe211Ser	coding	Pathogenic
15	72351176	G	A	G72351176A	HEXA	NM_000520.6(HEXA):c.629C>T:p.Ser210Phe	coding	Pathogenic
15	72351235	C	A	C72351235A	HEXA	NM_000520.6(HEXA):c.571-1G>T	coding	Pathogenic
15	72353098	G	C	G72353098C	HEXA	NM_000520.6(HEXA):c.540C>G:p.Tyr180Ter	coding	Pathogenic
15	72353100	A	G	A72353100G	HEXA	NM_000520.6(HEXA):c.538T>C:p.Tyr180His	coding	Pathogenic
15	72353105	C	A	C72353105A	HEXA	NM_000520.6(HEXA):c.533G>T:p.Arg178Leu	coding	Pathogenic
15	72353105	C	T	C72353105T	HEXA	NM_000520.6(HEXA):c.533G>A:p.Arg178His	coding	Pathogenic
15	72353114	T	G	T72353114G	HEXA	NM_000520.6(HEXA):c.524A>C:p.Asp175Ala	coding	Pathogenic
15	72353129	C	T	C72353129T	HEXA	NM_000520.6(HEXA):c.509G>A:p.Arg170Gln	coding	Pathogenic/Likely_pathogenic
15	72353130	G	A	G72353130A	HEXA	NM_000520.6(HEXA):c.508C>T:p.Arg170Trp	coding	Pathogenic/Likely_pathogenic
15	72353179	C	A	C72353179A	HEXA	NM_000520.6(HEXA):c.460-1G>T	coding	Pathogenic
15	72353686	C	T	C72353686T	HEXA	NM_000520.6(HEXA):c.459+5G>A	noncoding	Pathogenic/Likely_pathogenic
15	72353687	T	G	T72353687G	HEXA	NM_000520.6(HEXA):c.459+4A>C	noncoding	Pathogenic
15	72353720	G	A	G72353720A	HEXA	NM_000520.6(HEXA):c.430C>T:p.Gln144Ter	coding	Pathogenic
15	72353739	T	C	T72353739C	HEXA	NM_000520.6(HEXA):c.413-2A>G	noncoding	Pathogenic
15	72355562	G	A	G72355562A	HEXA	NM_000520.6(HEXA):c.409C>T:p.Arg137Ter	coding	Pathogenic
15	72355591	A	C	A72355591C	HEXA	NM_000520.6(HEXA):c.380T>G:p.Leu127Arg	coding	Pathogenic
15	72356524	C	G	C72356524G	HEXA	NM_000520.6(HEXA):c.346+1G>C	noncoding	Pathogenic/Likely_pathogenic
15	72356524	C	T	C72356524T	HEXA	NM_000520.6(HEXA):c.346+1G>A	noncoding	Pathogenic
15	72356531	C	T	C72356531T	HEXA	NM_000520.6(HEXA):c.340G>A:p.Glu114Lys	coding	Pathogenic
15	72375740	C	T	C72375740T	HEXA	NM_000520.6(HEXA):c.233G>A:p.Trp78Ter	coding	Pathogenic
15	72375800	C	T	C72375800T	HEXA	NM_000520.6(HEXA):c.173G>A:p.Cys58Tyr	coding	Pathogenic
15	72375818	G	T	G72375818T	HEXA	NM_000520.6(HEXA):c.155C>A:p.Ser52Ter	coding	Pathogenic
15	72375857	A	C	A72375857C	HEXA	NM_000520.6(HEXA):c.116T>G:p.Leu39Arg	coding	Pathogenic
15	72375895	C	T	C72375895T	HEXA	NM_000520.6(HEXA):c.78G>A:p.Trp26Ter	coding	Pathogenic
15	72375904	G	C	G72375904C	HEXA	NM_000520.6(HEXA):c.69C>G:p.Leu23=	coding	Benign
15	72375964	G	A	G72375964A	HEXA	NM_000520.6(HEXA):c.9C>T:p.Ser3=	coding	Benign/Likely_benign
15	72375970	C	T	C72375970T	HEXA	NM_000520.6(HEXA):c.3G>A:p.Met1Ile	coding	Pathogenic
15	72375971	A	G	A72375971G	HEXA	NM_000520.6(HEXA):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
15	72375972	T	A	T72375972A	HEXA	NM_000520.6(HEXA):c.1A>T:p.Met1Leu	coding	Pathogenic
15	72375972	T	C	T72375972C	HEXA	NM_000520.6(HEXA):c.1A>G:p.Met1Val	coding	Pathogenic
15	72375972	T	G	T72375972G	HEXA	NM_000520.6(HEXA):c.1A>C:p.Met1Leu	coding	Pathogenic
15	72686190	C	A	C72686190A	BBS4	NM_001252678.1(BBS4):c.-507C>A	noncoding	Benign
15	72686211	C	A	C72686211A	BBS4;HIGD2B	NM_033028.5(BBS4):c.-17C>A	noncoding	Benign
15	72686211	C	T	C72686211T	BBS4	NM_033028.5(BBS4):c.-17C>T	noncoding	Benign
15	72686222	G	A	G72686222A	BBS4	NM_033028.5(BBS4):c.-6G>A	noncoding	Benign
15	72686235	A	C	A72686235C	BBS4	NM_033028.5(BBS4):c.8A>C:p.Glu3Ala	coding	Benign
15	72686244	T	C	T72686244C	BBS4	NM_033028.5(BBS4):c.17T>C:p.Val6Ala	coding	Benign
15	72686245	C	T	C72686245T	BBS4	NM_033028.5(BBS4):c.18C>T:p.Val6=	coding	Benign
15	72686247	C	T	C72686247T	BBS4	NM_033028.5(BBS4):c.20C>T:p.Ala7Val	coding	Benign
15	72686259	C	T	C72686259T	BBS4	NM_033028.5(BBS4):c.24+8C>T	coding	Benign
15	72695194	A	G	A72695194G	BBS4	NM_033028.5(BBS4):c.42A>G:p.Val14=	coding	Benign
15	72695229	G	T	G72695229T	BBS4	NM_033028.5(BBS4):c.76+1G>T	coding	Pathogenic
15	72695247	G	T	G72695247T	BBS4	NM_033028.5(BBS4):c.76+19G>T	noncoding	Benign
15	72709694	G	A	G72709694A	BBS4	NM_033028.5(BBS4):c.77-6G>A	noncoding	Benign
15	72709714	A	G	A72709714G	BBS4	NM_033028.5(BBS4):c.91A>G:p.Ile31Val	coding	Benign
15	72709752	T	G	T72709752G	BBS4	NM_033028.5(BBS4):c.129T>G:p.Tyr43Ter	coding	Pathogenic
15	72712241	C	G	C72712241G	BBS4	NM_033028.5(BBS4):c.157-3C>G	noncoding	Pathogenic
15	72712242	A	G	A72712242G	BBS4	NM_033028.5(BBS4):c.157-2A>G	noncoding	Pathogenic
15	72712259	C	T	C72712259T	BBS4	NM_033028.5(BBS4):c.172C>T:p.Gln58Ter	coding	Pathogenic
15	72712267	A	G	A72712267G	BBS4	NM_033028.5(BBS4):c.180A>G:p.Gln60=	coding	Benign/Likely_benign
15	72712308	G	C	G72712308C	BBS4	NM_033028.5(BBS4):c.220+1G>C	coding	Pathogenic
15	72716867	C	T	C72716867T	BBS4	NM_033028.5(BBS4):c.405+17C>T	noncoding	Benign
15	72722792	A	C	A72722792C	BBS4	NM_033028.5(BBS4):c.406-2A>C	coding	Pathogenic
15	72722792	A	G	A72722792G	BBS4	NM_033028.5(BBS4):c.406-2A>G	coding	Pathogenic
15	72724581	T	A	T72724581A	BBS4	NM_033028.5(BBS4):c.513T>A:p.Tyr171Ter	coding	Pathogenic
15	72727990	T	A	T72727990A	BBS4	NM_033028.5(BBS4):c.638T>A:p.Leu213Ter	coding	Pathogenic
15	72731341	G	A	G72731341A	BBS4	NM_033028.5(BBS4):c.748G>A:p.Gly250Arg	coding	Benign
15	72731573	C	T	C72731573T	BBS4	NM_033028.5(BBS4):c.883C>T:p.Arg295Ter	coding	Pathogenic/Likely_pathogenic
15	72731574	G	C	G72731574C	BBS4	NM_033028.5(BBS4):c.884G>C:p.Arg295Pro	coding	Pathogenic
15	72731596	T	C	T72731596C	BBS4	NM_033028.5(BBS4):c.906T>C:p.Phe302=	coding	Benign
15	72731650	T	A	T72731650A	BBS4	NM_033028.5(BBS4):c.960T>A:p.Tyr320Ter	coding	Pathogenic
15	72735137	T	C	T72735137C	BBS4	NM_033028.5(BBS4):c.1061T>C:p.Ile354Thr	coding	Benign
15	72735167	C	A	C72735167A	BBS4	NM_033028.5(BBS4):c.1091C>A:p.Ala364Glu	coding	Pathogenic
15	72735184	T	A	T72735184A	BBS4	NM_033028.5(BBS4):c.1106+2T>A	noncoding	Pathogenic/Likely_pathogenic
15	72735202	T	C	T72735202C	BBS4	NM_033028.5(BBS4):c.1106+20T>C	noncoding	Benign
15	72736727	G	C	G72736727C	BBS4	NM_033028.5(BBS4):c.1249-35G>C	noncoding	Benign
15	72737588	G	C	G72737588C	BBS4	NM_033028.5(BBS4):c.*1G>C	coding	Benign
15	72738195	G	T	G72738195T	BBS4	NM_033028.5(BBS4):c.*608G>T	noncoding	Benign
15	73122739	C	T	C73122739T	NEO1	NM_002499.4(NEO1):c.663C>T:p.Cys221=	coding	Benign
15	73135883	T	A	T73135883A	NEO1	NM_002499.4(NEO1):c.879-8T>A	noncoding	Benign
15	73236456	C	T	C73236456T	NEO1	NM_002499.4(NEO1):c.1401C>T:p.His467=	coding	Benign
15	73301421	G	A	G73301421A	NEO1	NM_002499.4(NEO1):c.4266G>A:p.Val1422=	coding	Benign
15	73319900	G	A	G73319900A	HCN4	NM_005477.3(HCN4):c.*2581C>T	noncoding	Benign
15	73320036	G	A	G73320036A	HCN4	NM_005477.3(HCN4):c.*2445C>T	noncoding	Benign
15	73320088	G	C	G73320088C	HCN4	NM_005477.3(HCN4):c.*2393C>G	noncoding	Benign
15	73320127	T	C	T73320127C	HCN4	NM_005477.3(HCN4):c.*2354A>G	noncoding	Benign
15	73320492	C	T	C73320492T	HCN4	NM_005477.3(HCN4):c.*1989G>A	noncoding	Benign
15	73320822	T	C	T73320822C	HCN4	NM_005477.3(HCN4):c.*1659A>G	noncoding	Benign
15	73320991	T	G	T73320991G	HCN4	NM_005477.3(HCN4):c.*1490A>C	noncoding	Benign
15	73320999	T	C	T73320999C	HCN4	NM_005477.3(HCN4):c.*1482A>G	noncoding	Benign
15	73321284	A	G	A73321284G	HCN4	NM_005477.3(HCN4):c.*1197T>C	noncoding	Benign
15	73321341	C	T	C73321341T	HCN4	NM_005477.3(HCN4):c.*1140G>A	noncoding	Benign
15	73321637	C	T	C73321637T	HCN4	NM_005477.3(HCN4):c.*844G>A	noncoding	Benign
15	73321773	T	C	T73321773C	HCN4	NM_005477.3(HCN4):c.*708A>G	noncoding	Benign
15	73321847	G	A	G73321847A	HCN4	NM_005477.3(HCN4):c.*634C>T	noncoding	Benign
15	73322067	G	T	G73322067T	HCN4	NM_005477.3(HCN4):c.*414C>A	noncoding	Benign
15	73322354	T	C	T73322354C	HCN4	NM_005477.3(HCN4):c.*127A>G	noncoding	Benign
15	73322493	T	C	T73322493C	HCN4	NM_005477.3(HCN4):c.3600A>G:p.Pro1200=	coding	Benign
15	73322506	C	T	C73322506T	HCN4	NM_005477.3(HCN4):c.3587G>A:p.Arg1196His	coding	Benign
15	73322743	G	A	G73322743A	HCN4	NM_005477.3(HCN4):c.3350C>T:p.Pro1117Leu	coding	Benign/Likely_benign
15	73322756	T	C	T73322756C	HCN4	NM_005477.3(HCN4):c.3337A>G:p.Met1113Val	coding	Benign
15	73322805	G	A	G73322805A	HCN4	NM_005477.3(HCN4):c.3288C>T:p.Asp1096=	coding	Benign
15	73323060	A	C	A73323060C	HCN4	NM_005477.3(HCN4):c.3033T>G:p.Ser1011=	coding	Benign
15	73323081	C	T	C73323081T	HCN4	NM_005477.3(HCN4):c.3012G>A:p.Pro1004=	coding	Benign/Likely_benign
15	73323114	C	T	C73323114T	HCN4	NM_005477.3(HCN4):c.2979G>A:p.Thr993=	coding	Benign
15	73323248	G	A	G73323248A	HCN4	NM_005477.3(HCN4):c.2845C>T:p.Arg949Trp	coding	Benign/Likely_benign
15	73323255	G	A	G73323255A	HCN4	NM_005477.3(HCN4):c.2838C>T:p.Pro946=	coding	Benign/Likely_benign
15	73323262	G	A	G73323262A	HCN4	NM_005477.3(HCN4):c.2831C>T:p.Ala944Val	coding	Benign
15	73323393	G	T	G73323393T	HCN4	NM_005477.3(HCN4):c.2700C>A:p.Ala900=	coding	Benign
15	73323420	C	T	C73323420T	HCN4	NM_005477.3(HCN4):c.2673G>A:p.Ser891=	coding	Benign
15	73323436	G	A	G73323436A	HCN4	NM_005477.3(HCN4):c.2657C>T:p.Ala886Val	coding	Benign/Likely_benign
15	73323445	G	C	G73323445C	HCN4	NM_005477.3(HCN4):c.2648C>G:p.Pro883Arg	coding	Benign/Likely_benign
15	73323492	G	T	G73323492T	HCN4	NM_005477.3(HCN4):c.2601C>A:p.Ala867=	coding	Benign
15	73323537	C	T	C73323537T	HCN4	NM_005477.3(HCN4):c.2556G>A:p.Pro852=	coding	Benign
15	73324216	G	T	G73324216T	HCN4	NM_005477.3(HCN4):c.2016C>A:p.Ser672Arg	coding	Pathogenic
15	73324294	T	C	T73324294C	HCN4	NM_005477.3(HCN4):c.1979-41A>G	noncoding	Benign
15	73324403	C	T	C73324403T	HCN4	NM_005477.3(HCN4):c.1979-150G>A	noncoding	Benign
15	73324694	A	G	A73324694G	HCN4	NM_005477.3(HCN4):c.1978+261T>C	noncoding	Benign
15	73324703	G	A	G73324703A	HCN4	NM_005477.3(HCN4):c.1978+252C>T	noncoding	Benign
15	73324952	C	A	C73324952A	HCN4	NM_005477.3(HCN4):c.1978+3G>T	noncoding	Benign/Likely_benign
15	73325094	G	A	G73325094A	HCN4	NM_005477.3(HCN4):c.1839C>T:p.Phe613=	coding	Benign
15	73325201	G	A	G73325201A	HCN4	NM_005477.3(HCN4):c.1738-6C>T	noncoding	Benign/Likely_benign
15	73325278	C	T	C73325278T	HCN4	NM_005477.3(HCN4):c.1737+20G>A	noncoding	Benign
15	73325352	G	T	G73325352T	HCN4	NM_005477.3(HCN4):c.1683C>A:p.Gly561=	coding	Benign
15	73325382	G	T	G73325382T	HCN4	NM_005477.3(HCN4):c.1653C>A:p.Ile551=	coding	Benign/Likely_benign
15	73325463	G	T	G73325463T	HCN4	NM_005477.3(HCN4):c.1591-19C>A	noncoding	Benign
15	73329605	G	A	G73329605A	HCN4	NM_005477.3(HCN4):c.1558C>T:p.Leu520=	coding	Benign
15	73329627	G	A	G73329627A	HCN4	NM_005477.3(HCN4):c.1536C>T:p.His512=	coding	Benign/Likely_benign
15	73329645	G	A	G73329645A	HCN4	NM_005477.3(HCN4):c.1518C>T:p.Tyr506=	coding	Benign/Likely_benign
15	73329719	C	G	C73329719G	HCN4	NM_005477.3(HCN4):c.1444G>C:p.Gly482Arg	coding	Pathogenic
15	73329719	C	T	C73329719T	HCN4	NM_005477.3(HCN4):c.1444G>A:p.Gly482Arg	coding	Pathogenic/Likely_pathogenic
15	73329720	G	A	G73329720A	HCN4	NM_005477.3(HCN4):c.1443C>T:p.Tyr481=	coding	Benign/Likely_benign
15	73329725	C	G	C73329725G	HCN4	NM_005477.3(HCN4):c.1438G>C:p.Gly480Arg	coding	Pathogenic
15	73332123	G	A	G73332123A	HCN4	NM_005477.3(HCN4):c.1371+8C>T	noncoding	Benign
15	73332259	C	T	C73332259T	HCN4	NM_005477.3(HCN4):c.1243G>A:p.Val415Met	coding	Benign
15	73332261	G	C	G73332261C	HCN4	NM_005477.3(HCN4):c.1241C>G:p.Ala414Gly	coding	Pathogenic
15	73332508	C	A	C73332508A	HCN4	NM_005477.3(HCN4):c.1210-216G>T	noncoding	Benign
15	73367725	G	C	G73367725C	HCN4	NM_005477.3(HCN4):c.546C>G:p.Pro182=	coding	Benign
15	73368164	C	T	C73368164T	HCN4	NM_005477.3(HCN4):c.107G>A:p.Gly36Glu	coding	Benign
15	73368235	G	C	G73368235C	HCN4	NM_005477.3(HCN4):c.36C>G:p.Leu12=	coding	Benign
15	73368304	G	A	G73368304A	HCN4	NM_005477.3(HCN4):c.-34C>T	noncoding	Benign
15	73368459	C	T	C73368459T	HCN4	NM_005477.3(HCN4):c.-189G>A	noncoding	Benign/Likely_benign
15	73368855	G	T	G73368855T	HCN4	NM_005477.3(HCN4):c.-585C>A	noncoding	Benign
15	73369346	T	G	T73369346G	HCN4	NC_000015.10:g.73369346T>G	noncoding	Benign
15	73551046	G	A	G73551046A	REC114	NM_001042367.2(REC114):c.442G>A:p.Val148Met	coding	Benign
15	73556299	C	T	C73556299T	REC114	NM_001042367.2(REC114):c.547-3C>T	noncoding	Benign
15	73570265	C	T	C73570265T	NPTN	NM_012428.4(NPTN):c.999G>A:p.Val333=	coding	Benign
15	73570426	G	A	G73570426A	NPTN	NM_012428.4(NPTN):c.841-3C>T	noncoding	Benign
15	73703652	C	T	C73703652T	CD276	NM_001024736.2(CD276):c.734-7C>T	noncoding	Benign
15	73704360	G	A	G73704360A	CD276	NM_001024736.2(CD276):c.1257G>A:p.Leu419=	coding	Benign
15	73927215	C	T	C73927215T	LOXL1	NM_005576.4(LOXL1):c.432C>T:p.Thr144=	coding	Benign
15	73947184	C	T	C73947184T	LOXL1	NM_005576.4(LOXL1):c.1467C>T:p.Phe489=	coding	Benign
15	73994894	A	C	A73994894C	PML	NM_033238.3(PML):c.82A>C:p.Thr28Pro	coding	Benign
15	74023017	C	T	C74023017T	PML	NM_033238.3(PML):c.792C>T:p.Ala264=	coding	Benign
15	74033402	G	A	G74033402A	PML	NM_033238.3(PML):c.1645G>A:p.Ala549Thr	coding	Benign
15	74035343	G	A	G74035343A	PML	NM_033238.3(PML):c.1710+813G>A	coding	Benign
15	74035478	C	T	C74035478T	PML	NM_033238.3(PML):c.1710+948C>T	coding	Benign
15	74035757	G	A	G74035757A	PML	NM_033238.3(PML):c.1710+1227G>A	coding	Benign
15	74035775	A	G	A74035775G	PML	NM_033238.3(PML):c.1710+1245A>G	coding	Benign
15	74035800	G	T	G74035800T	PML	NM_033238.3(PML):c.1710+1270G>T	coding	Benign
15	74044384	C	T	C74044384T	PML	NM_033238.3(PML):c.2025C>T:p.Ala675=	coding	Benign
15	74044642	G	A	G74044642A	PML	NM_033238.3(PML):c.2283G>A:p.Pro761=	coding	Benign
15	74044732	C	G	C74044732G	PML	NM_033238.3(PML):c.2373C>G:p.Pro791=	coding	Benign
15	74174903	G	A	G74174903A	ISLR	NM_005545.4(ISLR):c.45G>A:p.Leu15=	coding	Benign
15	74174987	C	T	C74174987T	ISLR	NM_005545.4(ISLR):c.129C>T:p.Ser43=	coding	Benign
15	74175392	C	T	C74175392T	ISLR	NM_005545.4(ISLR):c.534C>T:p.Asn178=	coding	Benign
15	74179511	A	G	A74179511G	STRA6	NM_022369.4(STRA6):c.*569T>C	noncoding	Benign
15	74179591	A	G	A74179591G	STRA6	NM_022369.4(STRA6):c.*489T>C	noncoding	Benign
15	74179858	C	T	C74179858T	STRA6	NM_022369.4(STRA6):c.*222G>A	noncoding	Benign
15	74179953	A	G	A74179953G	STRA6	NM_022369.4(STRA6):c.*127T>C	noncoding	Benign
15	74180005	G	T	G74180005T	STRA6	NM_022369.4(STRA6):c.*75C>A	noncoding	Benign
15	74180153	G	A	G74180153A	STRA6	NM_022369.4(STRA6):c.1931C>T:p.Thr644Met	coding	Pathogenic
15	74180171	C	G	C74180171G	STRA6	NM_022369.4(STRA6):c.1913G>C:p.Arg638Pro	coding	Pathogenic
15	74180181	C	T	C74180181T	STRA6	NM_022369.4(STRA6):c.1903G>A:p.Gly635Ser	coding	Benign
15	74180786	G	A	G74180786A	STRA6	NM_022369.4(STRA6):c.1836C>T:p.Asp612=	coding	Benign
15	74180851	C	T	C74180851T	STRA6	NM_022369.4(STRA6):c.1771G>A:p.Ala591Thr	coding	Benign/Likely_benign
15	74180887	G	C	G74180887C	STRA6	NM_022369.4(STRA6):c.1735C>G:p.Pro579Ala	coding	Pathogenic
15	74180952	C	T	C74180952T	STRA6	NM_022369.4(STRA6):c.1685-15G>A	noncoding	Benign
15	74181301	C	G	C74181301G	STRA6	NM_022369.4(STRA6):c.1678G>C:p.Asp560His	coding	Pathogenic
15	74181374	G	T	G74181374T	STRA6	NM_022369.4(STRA6):c.1605C>A:p.Leu535=	coding	Benign/Likely_benign
15	74181398	C	T	C74181398T	STRA6	NM_022369.4(STRA6):c.1581G>A:p.Met527Ile	coding	Benign
15	74181459	C	T	C74181459T	STRA6	NM_022369.4(STRA6):c.1521-1G>A	coding	Pathogenic
15	74182345	C	T	C74182345T	STRA6	NM_022369.4(STRA6):c.1416G>A:p.Ser472=	coding	Benign/Likely_benign
15	74182448	T	C	T74182448C	STRA6	NM_022369.4(STRA6):c.1313A>G:p.Gln438Arg	coding	Pathogenic
15	74182466	A	T	A74182466T	STRA6	NM_022369.4(STRA6):c.1301-6T>A	noncoding	Pathogenic
15	74183999	G	C	G74183999C	STRA6	NM_022369.4(STRA6):c.1167-10C>G	noncoding	Benign
15	74184875	G	A	G74184875A	STRA6	NM_022369.4(STRA6):c.1166+105C>T	noncoding	Benign
15	74184898	G	A	G74184898A	STRA6	NM_022369.4(STRA6):c.1166+82C>T	noncoding	Benign
15	74189179	G	A	G74189179A	STRA6	NM_022369.4(STRA6):c.1026C>T:p.Ile342=	coding	Benign
15	74189244	T	G	T74189244G	STRA6	NM_022369.4(STRA6):c.961A>C:p.Thr321Pro	coding	Pathogenic
15	74189259	C	T	C74189259T	STRA6	NM_022369.4(STRA6):c.946G>A:p.Val316Met	coding	Benign
15	74190889	G	A	G74190889A	STRA6	NM_022369.4(STRA6):c.878C>T:p.Pro293Leu	coding	Pathogenic
15	74195293	A	C	A74195293C	STRA6	NM_022369.4(STRA6):c.597+9T>G	coding	Benign
15	74195461	C	T	C74195461T	STRA6	NM_022369.4(STRA6):c.438G>A:p.Trp146Ter	coding	Pathogenic
15	74196047	C	G	C74196047G	STRA6	NM_022369.4(STRA6):c.367G>C:p.Ala123Pro	coding	Benign
15	74196083	G	A	G74196083A	STRA6	NM_022369.4(STRA6):c.331C>T:p.Leu111=	coding	Benign
15	74196145	G	A	G74196145A	STRA6	NM_022369.4(STRA6):c.269C>T:p.Pro90Leu	coding	Pathogenic
15	74197759	G	A	G74197759A	STRA6	NM_022369.4(STRA6):c.173C>T:p.Ser58Leu	coding	Benign
15	74202163	C	T	C74202163T	STRA6	NM_022369.4(STRA6):c.105G>A:p.Gln35=	coding	Benign
15	74202177	C	T	C74202177T	STRA6	NM_022369.4(STRA6):c.91G>A:p.Gly31Ser	coding	Benign
15	74202199	C	T	C74202199T	STRA6	NM_022369.4(STRA6):c.69G>A:p.Trp23Ter	coding	Pathogenic
15	74338761	A	T	A74338761T	CYP11A1	NM_000781.3(CYP11A1):c.1244T>A:p.Val415Glu	coding	Pathogenic
15	74339320	G	A	G74339320A	CYP11A1	NM_000781.3(CYP11A1):c.1158-5C>T	noncoding	Benign/Likely_benign
15	74339653	T	C	T74339653C	CYP11A1	NM_000781.3(CYP11A1):c.1091A>G:p.Gln364Arg	coding	Benign/Likely_benign
15	74339668	G	A	G74339668A	CYP11A1	NM_000781.3(CYP11A1):c.1076C>T:p.Ala359Val	coding	Pathogenic
15	74339687	G	A	G74339687A	CYP11A1	NM_000781.3(CYP11A1):c.1057C>T:p.Arg353Trp	coding	Pathogenic
15	74343028	G	A	G74343028A	CYP11A1	NM_000781.3(CYP11A1):c.939C>T:p.Phe313=	coding	Benign
15	74343953	A	G	A74343953G	CYP11A1	NM_000781.3(CYP11A1):c.665T>C:p.Leu222Pro	coding	Pathogenic
15	74345103	G	A	G74345103A	CYP11A1	NM_000781.3(CYP11A1):c.566C>T:p.Ala189Val	coding	Pathogenic
15	74345134	C	T	C74345134T	CYP11A1	NM_000781.3(CYP11A1):c.535G>A:p.Val179Ile	coding	Benign
15	74345231	G	A	G74345231A	CYP11A1	NM_000781.3(CYP11A1):c.438C>T:p.Ala146=	coding	Benign
15	74347899	C	T	C74347899T	CYP11A1	NM_000781.3(CYP11A1):c.425+1G>A	noncoding	Pathogenic
15	74347903	A	C	A74347903C	CYP11A1	NM_000781.3(CYP11A1):c.422T>G:p.Leu141Trp	coding	Pathogenic
15	74347908	G	A	G74347908A	CYP11A1	NM_000781.3(CYP11A1):c.417C>T:p.Val139=	coding	Benign
15	74347959	G	A	G74347959A	CYP11A1	NM_000781.3(CYP11A1):c.366C>T:p.Leu122=	coding	Benign/Likely_benign
15	74347967	G	A	G74347967A	CYP11A1	NM_000781.3(CYP11A1):c.358C>T:p.Arg120Ter	coding	Pathogenic
15	74418297	A	T	A74418297T	SEMA7A	NM_003612.5(SEMA7A):c.343T>A:p.Ser115Thr	coding	Benign
15	74449991	A	G	A74449991G	UBL7	NM_032907.5(UBL7):c.609T>C:p.Pro203=	coding	Benign
15	74458798	G	C	G74458798C	UBL7	NM_032907.5(UBL7):c.70C>G:p.Arg24Gly	coding	Benign
15	74589834	C	A	C74589834A	ARID3B	NM_006465.4(ARID3B):c.712C>A:p.Arg238=	coding	Benign
15	74589911	G	A	G74589911A	ARID3B	NM_006465.4(ARID3B):c.789G>A:p.Val263=	coding	Benign
15	74595618	G	A	G74595618A	ARID3B	NM_006465.4(ARID3B):c.1527G>A:p.Leu509=	coding	Benign
15	74655734	C	T	C74655734T	EDC3	NM_025083.5(EDC3):c.819G>A:p.Thr273=	coding	Benign
15	74674964	A	G	A74674964G	EDC3	NM_025083.5(EDC3):c.161T>C:p.Phe54Ser	coding	Pathogenic
15	74720496	C	A	C74720496A	CYP1A1	NM_001319217.2(CYP1A1):c.1532G>T:p.Arg511Leu	coding	Benign
15	74720555	G	A	G74720555A	CYP1A1	NM_001319217.2(CYP1A1):c.1473C>T:p.Thr491=	coding	Benign
15	74720638	G	T	G74720638T	CYP1A1	NM_001319217.2(CYP1A1):c.1390C>A:p.Arg464Ser	coding	Benign
15	74721686	A	G	A74721686G	CYP1A1	NM_001319217.2(CYP1A1):c.857T>C:p.Ile286Thr	coding	Benign
15	74722386	G	A	G74722386A	CYP1A1	NM_001319217.2(CYP1A1):c.712C>T:p.Pro238Ser	coding	Benign
15	74722865	A	G	A74722865G	CYP1A1	NM_001319217.2(CYP1A1):c.233T>C:p.Ile78Thr	coding	Benign
15	74754996	G	A	G74754996A	CYP1A2	NM_000761.5(CYP1A2):c.1459G>A:p.Val487Met	coding	Benign
15	74755085	T	C	T74755085C	CYP1A2	NM_000761.5(CYP1A2):c.1548T>C:p.Asn516=	coding	Benign
15	74801568	G	A	G74801568A	CSK	NM_004383.2(CSK):c.860G>A:p.Gly287Asp	coding	Benign
15	74837243	A	C	A74837243C	ULK3	NM_001099436.4(ULK3):c.1404T>G:p.Ser468=	coding	Benign
15	74840580	G	C	G74840580C	ULK3	NM_001099436.4(ULK3):c.531C>G:p.Pro177=	coding	Benign
15	74840645	C	T	C74840645T	ULK3	NM_001099436.4(ULK3):c.470-4G>A	coding	Benign
15	74842137	C	T	C74842137T	ULK3	NM_001099436.4(ULK3):c.302G>A:p.Arg101His	coding	Benign
15	74891400	C	T	C74891400T	MPI	NM_002435.3(MPI):c.166C>T:p.Arg56Ter	coding	Pathogenic
15	74891448	A	C	A74891448C	MPI	NM_002435.3(MPI):c.214A>C:p.Ser72Arg	coding	Benign/Likely_benign
15	74891539	C	T	C74891539T	MPI	NM_002435.3(MPI):c.305C>T:p.Ser102Leu	coding	Pathogenic
15	74891594	G	A	G74891594A	MPI	NM_002435.3(MPI):c.345+15G>A	noncoding	Benign
15	74891595	C	T	C74891595T	MPI	NM_002435.3(MPI):c.345+16C>T	noncoding	Benign
15	74892728	T	C	T74892728C	MPI	NM_002435.3(MPI):c.413T>C:p.Met138Thr	coding	Pathogenic
15	74893306	G	A	G74893306A	MPI	NM_002435.3(MPI):c.656G>A:p.Arg219Gln	coding	Pathogenic/Likely_pathogenic
15	74893329	A	G	A74893329G	MPI	NM_002435.3(MPI):c.670+9A>G	noncoding	Benign
15	74896165	C	T	C74896165T	MPI	NM_002435.3(MPI):c.684C>T:p.Asn228=	coding	Benign
15	74896243	C	T	C74896243T	MPI	NM_002435.3(MPI):c.762C>T:p.Ile254=	coding	Benign
15	74897050	G	A	G74897050A	MPI	NM_002435.3(MPI):c.884G>A:p.Arg295His	coding	Pathogenic
15	74897148	C	T	C74897148T	MPI	NM_002435.3(MPI):c.982C>T:p.Arg328Trp	coding	Benign/Likely_benign
15	74897215	C	T	C74897215T	MPI	NM_002435.3(MPI):c.1049C>T:p.Thr350Met	coding	Benign/Likely_benign
15	74897250	G	A	G74897250A	MPI	NM_002435.3(MPI):c.1053+31G>A	noncoding	Benign
15	74897589	A	G	A74897589G	MPI	NM_002435.3(MPI):c.1131A>G:p.Val377=	coding	Benign
15	74897663	A	G	A74897663G	MPI	NM_002435.3(MPI):c.1205A>G:p.Glu402Gly	coding	Pathogenic
15	74897711	G	A	G74897711A	MPI	NM_002435.3(MPI):c.1253G>A:p.Arg418His	coding	Pathogenic
15	74897788	C	T	C74897788T	MPI	NM_002435.3(MPI):c.*58C>T	noncoding	Benign
15	74898088	G	A	G74898088A	MPI	NM_002435.3(MPI):c.*358G>A	noncoding	Benign
15	74926786	G	A	G74926786A	COX5A	NM_004255.4(COX5A):c.319C>T:p.Arg107Cys	coding	Pathogenic
15	74956218	C	T	C74956218T	RPP25	NM_017793.3(RPP25):c.366G>A:p.Pro122=	coding	Benign
15	74956224	G	T	G74956224T	RPP25	NM_017793.3(RPP25):c.360C>A:p.Gly120=	coding	Benign
15	75012717	G	T	G75012717T	SCAMP5	NM_138967.4(SCAMP5):c.48G>T:p.Pro16=	coding	Benign
15	75018813	G	T	G75018813T	SCAMP5	NM_138967.4(SCAMP5):c.538G>T:p.Gly180Trp	coding	Pathogenic/Likely_pathogenic
15	75028384	G	T	G75028384T	PPCDC	NM_021823.5(PPCDC):c.66G>T:p.Val22=	coding	Benign
15	75349051	C	G	C75349051G	NEIL1	NM_024608.4(NEIL1):c.146C>G:p.Ala49Gly	coding	Benign
15	75349108	C	A	C75349108A	NEIL1	NM_024608.4(NEIL1):c.203C>A:p.Pro68His	coding	Benign
15	75349341	T	C	T75349341C	NEIL1	NM_024608.4(NEIL1):c.434+2T>C	noncoding	Benign
15	75352222	C	G	C75352222G	NEIL1	NM_024608.4(NEIL1):c.546C>G:p.Ile182Met	coding	Benign
15	75353774	G	A	G75353774A	NEIL1	NM_024608.4(NEIL1):c.754G>A:p.Asp252Asn	coding	Benign
15	75375790	T	A	T75375790A	SIN3A	NM_001145358.2(SIN3A):c.3466A>T:p.Met1156Leu	coding	Benign
15	75380702	G	A	G75380702A	SIN3A	NM_001145358.2(SIN3A):c.3310C>T:p.Arg1104Ter	coding	Pathogenic
15	75384256	A	C	A75384256C	SIN3A	NM_001145358.2(SIN3A):c.3195+8T>G	noncoding	Benign
15	75384366	C	T	C75384366T	SIN3A	NM_001145358.2(SIN3A):c.3093G>A:p.Gly1031=	coding	Benign
15	75392354	G	A	G75392354A	SIN3A	NM_001145358.2(SIN3A):c.2739C>T:p.Ala913=	coding	Benign
15	75392404	G	A	G75392404A	SIN3A	NM_001145358.2(SIN3A):c.2689C>T:p.Arg897Ter	coding	Pathogenic
15	75392418	C	T	C75392418T	SIN3A	NM_001145358.2(SIN3A):c.2675G>A:p.Trp892Ter	coding	Pathogenic
15	75392510	G	C	G75392510C	SIN3A	NM_001145358.2(SIN3A):c.2583C>G:p.Pro861=	coding	Benign
15	75394673	C	A	C75394673A	SIN3A	NM_001145358.2(SIN3A):c.2277+7G>T	noncoding	Benign
15	75394864	C	A	C75394864A	SIN3A	NM_001145358.2(SIN3A):c.2094-1G>T	coding	Pathogenic
15	75396332	A	C	A75396332C	SIN3A	NM_001145358.2(SIN3A):c.2019T>G:p.Tyr673Ter	coding	Pathogenic
15	75396503	A	T	A75396503T	SIN3A	NM_001145358.2(SIN3A):c.1855-7T>A	noncoding	Benign
15	75400792	G	A	G75400792A	SIN3A	NM_001145358.2(SIN3A):c.1675C>T:p.Arg559Ter	coding	Pathogenic
15	75400810	G	A	G75400810A	SIN3A	NM_001145358.2(SIN3A):c.1657C>T:p.Arg553Ter	coding	Pathogenic
15	75400858	G	A	G75400858A	SIN3A	NM_001145358.2(SIN3A):c.1609C>T:p.Arg537Ter	coding	Pathogenic
15	75401950	A	G	A75401950G	SIN3A	NM_001145358.2(SIN3A):c.1428T>C:p.Ser476=	coding	Benign
15	75410136	C	A	C75410136A	SIN3A	NM_001145358.2(SIN3A):c.1159G>T:p.Val387Leu	coding	Pathogenic
15	75410155	T	C	T75410155C	SIN3A	NM_001145358.2(SIN3A):c.1140A>G:p.Leu380=	coding	Benign
15	75411558	G	A	G75411558A	SIN3A	NM_001145358.2(SIN3A):c.942C>T:p.Ile314=	coding	Benign
15	75411638	T	C	T75411638C	SIN3A	NM_001145358.2(SIN3A):c.862A>G:p.Ile288Val	coding	Benign
15	75411664	G	A	G75411664A	SIN3A	NM_001145358.2(SIN3A):c.836C>T:p.Pro279Leu	coding	Benign
15	75422667	G	A	G75422667A	SIN3A	NM_001145358.2(SIN3A):c.346C>T:p.Gln116Ter	coding	Pathogenic
15	75430250	T	C	T75430250C	SIN3A	NM_001145358.2(SIN3A):c.126A>G:p.Glu42=	coding	Benign
15	75523156	C	T	C75523156T	PTPN9	NM_002833.4(PTPN9):c.387G>A:p.Gln129=	coding	Benign
15	75690151	G	A	G75690151A	CSPG4	NM_001897.5(CSPG4):c.914C>T:p.Thr305Met	coding	Benign
15	75693123	C	T	C75693123T	CSPG4	NM_001897.5(CSPG4):c.199G>A:p.Ala67Thr	coding	Benign
15	75693210	G	A	G75693210A	CSPG4	NM_001897.5(CSPG4):c.112C>T:p.Leu38=	coding	Benign
15	75961970	C	T	C75961970T	NRG4	NM_138573.4(NRG4):c.109G>A:p.Val37Ile	coding	Benign
15	76216291	T	C	T76216291C	ETFA	NM_000126.4(ETFA):c.*268A>G	noncoding	Benign
15	76216343	T	A	T76216343A	ETFA	NM_000126.4(ETFA):c.*216A>T	noncoding	Benign
15	76231279	C	A	C76231279A	ETFA	NM_000126.4(ETFA):c.882+54G>T	noncoding	Benign
15	76274431	G	A	G76274431A	ETFA	NM_000126.4(ETFA):c.797C>T:p.Thr266Met	coding	Pathogenic
15	76274514	G	T	G76274514T	ETFA	NM_000126.4(ETFA):c.734-20C>A	noncoding	Benign
15	76285676	G	A	G76285676A	ETFA	NM_000126.4(ETFA):c.625C>T:p.Arg209Ter	coding	Pathogenic
15	76286360	T	A	T76286360A	ETFA	NM_000126.4(ETFA):c.562+11A>T	noncoding	Benign
15	76286421	G	A	G76286421A	ETFA	NM_000126.4(ETFA):c.512C>T:p.Thr171Ile	coding	Benign
15	76286463	A	C	A76286463C	ETFA	NM_000126.4(ETFA):c.470T>G:p.Val157Gly	coding	Pathogenic
15	76286749	G	A	G76286749A	ETFA	NM_000126.4(ETFA):c.452-268C>T	noncoding	Benign
15	76288186	C	T	C76288186T	ETFA	NM_000126.4(ETFA):c.352-241G>A	noncoding	Benign
15	76288206	C	T	C76288206T	ETFA	NM_000126.4(ETFA):c.352-261G>A	noncoding	Benign
15	76292414	A	G	A76292414G	ETFA	NM_000126.4(ETFA):c.351+17T>C	noncoding	Benign
15	76292436	C	T	C76292436T	ETFA	NM_000126.4(ETFA):c.346G>A:p.Gly116Arg	coding	Pathogenic
15	76295436	C	T	C76295436T	ETFA	NM_000126.4(ETFA):c.186+155G>A	noncoding	Benign
15	76295575	C	A	C76295575A	ETFA	NM_000126.4(ETFA):c.186+16G>T	noncoding	Benign
15	76295725	G	A	G76295725A	ETFA	NM_000126.4(ETFA):c.52C>T:p.Arg18Ter	coding	Pathogenic
15	76311338	G	C	G76311338C	ETFA	NM_000126.4(ETFA):c.39+12C>G	noncoding	Benign
15	76311587	C	T	C76311587T	ETFA	NC_000015.10:g.76311587C>T	noncoding	Benign
15	76354114	G	C	G76354114C	SCAPER	NM_020843.4(SCAPER):c.3882C>G:p.Pro1294=	coding	Benign
15	76376237	T	C	T76376237C	SCAPER	NM_020843.4(SCAPER):c.3780A>G:p.Gln1260=	coding	Benign
15	76381427	C	T	C76381427T	SCAPER	NM_020843.4(SCAPER):c.3656G>A:p.Ser1219Asn	coding	Pathogenic/Likely_pathogenic
15	76381444	G	T	G76381444T	SCAPER	NM_020843.4(SCAPER):c.3639C>A:p.Ile1213=	coding	Benign
15	76381467	C	T	C76381467T	SCAPER	NM_020843.4(SCAPER):c.3616G>A:p.Glu1206Lys	coding	Benign
15	76381486	G	A	G76381486A	SCAPER	NM_020843.4(SCAPER):c.3597C>T:p.Pro1199=	coding	Benign
15	76404573	C	T	C76404573T	SCAPER	NM_020843.4(SCAPER):c.3418G>A:p.Ala1140Thr	coding	Benign
15	76404683	G	C	G76404683C	SCAPER	NM_020843.4(SCAPER):c.3312-4C>G	noncoding	Benign
15	76404686	A	G	A76404686G	SCAPER	NM_020843.4(SCAPER):c.3312-7T>C	noncoding	Benign
15	76434099	T	C	T76434099C	SCAPER	NM_020843.4(SCAPER):c.3290A>G:p.Asn1097Ser	coding	Benign
15	76621818	T	A	T76621818A	SCAPER	NM_020843.4(SCAPER):c.2657A>T:p.Tyr886Phe	coding	Benign
15	76701809	G	A	G76701809A	SCAPER	NM_020843.4(SCAPER):c.2457C>T:p.Ala819=	coding	Benign
15	76702873	G	A	G76702873A	SCAPER	NM_020843.4(SCAPER):c.2377C>T:p.Gln793Ter	coding	Pathogenic
15	76702928	C	T	C76702928T	SCAPER	NM_020843.4(SCAPER):c.2322G>A:p.Gly774=	coding	Benign
15	76728717	C	T	C76728717T	SCAPER	NM_020843.4(SCAPER):c.2043G>A:p.Glu681=	coding	Benign
15	76728739	T	C	T76728739C	SCAPER	NM_020843.4(SCAPER):c.2023-2A>G	noncoding	Pathogenic
15	76733247	T	A	T76733247A	SCAPER	NM_020843.4(SCAPER):c.2004A>T:p.Ala668=	coding	Benign
15	76733367	A	G	A76733367G	SCAPER	NM_020843.4(SCAPER):c.1884T>C:p.Phe628=	coding	Benign
15	76753946	C	T	C76753946T	SCAPER	NM_020843.4(SCAPER):c.1728G>A:p.Glu576=	coding	Benign
15	76774913	T	C	T76774913C	SCAPER	NM_020843.4(SCAPER):c.977A>G:p.Glu326Gly	coding	Benign
15	76841797	A	C	A76841797C	SCAPER	NM_020843.4(SCAPER):c.330T>G:p.Leu110=	coding	Benign
15	76841903	G	A	G76841903A	SCAPER	NM_020843.4(SCAPER):c.224C>T:p.Ser75Leu	coding	Benign
15	76862445	C	T	C76862445T	SCAPER	NM_020843.4(SCAPER):c.95G>A:p.Ser32Asn	coding	Benign
15	76862516	G	A	G76862516A	SCAPER	NM_020843.4(SCAPER):c.24C>T:p.Ser8=	coding	Benign
15	76995138	G	A	G76995138A	PSTPIP1	NM_003978.5(PSTPIP1):c.-436G>A	noncoding	Benign
15	76995403	A	T	A76995403T	PSTPIP1	NM_003978.5(PSTPIP1):c.-171A>T	noncoding	Benign
15	76995450	C	T	C76995450T	PSTPIP1	NM_003978.5(PSTPIP1):c.-124C>T	noncoding	Benign/Likely_benign
15	76995457	C	T	C76995457T	PSTPIP1	NM_003978.5(PSTPIP1):c.-117C>T	noncoding	Benign
15	77018276	C	T	C77018276T	PSTPIP1	NM_003978.5(PSTPIP1):c.137+28C>T	noncoding	Benign
15	77018295	G	C	G77018295C	PSTPIP1	NM_003978.5(PSTPIP1):c.137+47G>C	noncoding	Benign
15	77018305	G	A	G77018305A	PSTPIP1	NM_003978.5(PSTPIP1):c.137+57G>A	noncoding	Benign
15	77018466	G	A	G77018466A	PSTPIP1	NM_003978.5(PSTPIP1):c.147G>A:p.Ala49=	coding	Benign/Likely_benign
15	77018522	C	T	C77018522T	PSTPIP1	NM_003978.5(PSTPIP1):c.203C>T:p.Thr68Met	coding	Benign/Likely_benign
15	77018523	G	A	G77018523A	PSTPIP1	NM_003978.5(PSTPIP1):c.204G>A:p.Thr68=	coding	Benign
15	77018543	C	T	C77018543T	PSTPIP1	NM_003978.5(PSTPIP1):c.212+12C>T	noncoding	Benign
15	77025307	C	T	C77025307T	PSTPIP1	NM_003978.5(PSTPIP1):c.236C>T:p.Ser79Phe	coding	Benign/Likely_benign
15	77025338	G	A	G77025338A	PSTPIP1	NM_003978.5(PSTPIP1):c.247+20G>A	noncoding	Benign
15	77025432	G	A	G77025432A	PSTPIP1	NM_003978.5(PSTPIP1):c.248-66G>A	noncoding	Benign
15	77025614	G	A	G77025614A	PSTPIP1	NM_003978.5(PSTPIP1):c.354+10G>A	noncoding	Benign/Likely_benign
15	77025624	C	T	C77025624T	PSTPIP1	NM_003978.5(PSTPIP1):c.354+20C>T	noncoding	Benign
15	77025789	C	T	C77025789T	PSTPIP1	NM_003978.5(PSTPIP1):c.354+185C>T	noncoding	Benign
15	77028146	G	C	G77028146C	PSTPIP1	NM_003978.5(PSTPIP1):c.417+232G>C	noncoding	Benign
15	77028534	A	G	A77028534G	PSTPIP1	NM_003978.5(PSTPIP1):c.418-20A>G	noncoding	Benign
15	77028812	G	A	G77028812A	PSTPIP1	NM_003978.5(PSTPIP1):c.516+160G>A	noncoding	Benign
15	77028829	A	G	A77028829G	PSTPIP1	NM_003978.5(PSTPIP1):c.516+177A>G	noncoding	Benign
15	77029555	G	A	G77029555A	PSTPIP1	NM_003978.5(PSTPIP1):c.543G>A:p.Lys181=	coding	Benign
15	77029567	C	T	C77029567T	PSTPIP1	NM_003978.5(PSTPIP1):c.555C>T:p.Thr185=	coding	Benign/Likely_benign
15	77030420	G	A	G77030420A	PSTPIP1	NM_003978.5(PSTPIP1):c.563-82G>A	noncoding	Benign
15	77030494	G	A	G77030494A	PSTPIP1	NM_003978.5(PSTPIP1):c.563-8G>A	noncoding	Benign
15	77030597	G	A	G77030597A	PSTPIP1	NM_003978.5(PSTPIP1):c.642+16G>A	noncoding	Benign
15	77031167	C	A	C77031167A	PSTPIP1	NM_003978.5(PSTPIP1):c.643-13C>A	noncoding	Benign
15	77031189	C	T	C77031189T	PSTPIP1	NM_003978.5(PSTPIP1):c.652C>T:p.Leu218=	coding	Benign
15	77031194	A	C	A77031194C	PSTPIP1	NM_003978.5(PSTPIP1):c.657A>C:p.Gln219His	coding	Benign/Likely_benign
15	77031224	C	T	C77031224T	PSTPIP1	NM_003978.5(PSTPIP1):c.687C>T:p.Asn229=	coding	Benign/Likely_benign
15	77031225	G	A	G77031225A	PSTPIP1	NM_003978.5(PSTPIP1):c.688G>A:p.Ala230Thr	coding	Pathogenic
15	77031551	C	T	C77031551T	PSTPIP1	NM_003978.5(PSTPIP1):c.741+273C>T	noncoding	Benign
15	77032303	C	T	C77032303T	PSTPIP1	NM_003978.5(PSTPIP1):c.747C>T:p.Tyr249=	coding	Benign/Likely_benign
15	77032304	G	A	G77032304A	PSTPIP1	NM_003978.5(PSTPIP1):c.748G>A:p.Glu250Lys	coding	Pathogenic
15	77032304	G	C	G77032304C	PSTPIP1	NM_003978.5(PSTPIP1):c.748G>C:p.Glu250Gln	coding	Pathogenic
15	77032329	G	C	G77032329C	PSTPIP1	NM_003978.5(PSTPIP1):c.773G>C:p.Gly258Ala	coding	Benign
15	77032342	C	T	C77032342T	PSTPIP1	NM_003978.5(PSTPIP1):c.786C>T:p.Asp262=	coding	Benign/Likely_benign
15	77032393	C	T	C77032393T	PSTPIP1	NM_003978.5(PSTPIP1):c.837C>T:p.Pro279=	coding	Benign
15	77032434	T	C	T77032434C	PSTPIP1	NM_003978.5(PSTPIP1):c.838+40T>C	noncoding	Benign
15	77032539	A	G	A77032539G	PSTPIP1	NM_003978.5(PSTPIP1):c.838+145A>G	noncoding	Benign
15	77032888	G	C	G77032888C	PSTPIP1	NM_003978.5(PSTPIP1):c.865G>C:p.Asp289His	coding	Pathogenic
15	77032905	G	A	G77032905A	PSTPIP1	NM_003978.5(PSTPIP1):c.882G>A:p.Pro294=	coding	Benign/Likely_benign
15	77032931	C	T	C77032931T	PSTPIP1	NM_003978.5(PSTPIP1):c.908C>T:p.Pro303Leu	coding	Benign/Likely_benign
15	77032938	C	T	C77032938T	PSTPIP1	NM_003978.5(PSTPIP1):c.915C>T:p.Cys305=	coding	Benign
15	77032969	C	T	C77032969T	PSTPIP1	NM_003978.5(PSTPIP1):c.929+17C>T	noncoding	Benign
15	77035230	T	C	T77035230C	PSTPIP1	NM_003978.5(PSTPIP1):c.930-278T>C	noncoding	Benign
15	77035518	C	T	C77035518T	PSTPIP1	NM_003978.5(PSTPIP1):c.940C>T:p.Leu314=	coding	Benign
15	77035569	G	C	G77035569C	PSTPIP1	NM_003978.5(PSTPIP1):c.985+6G>C	noncoding	Benign
15	77035870	G	A	G77035870A	PSTPIP1	NM_003978.5(PSTPIP1):c.1054G>A:p.Glu352Lys	coding	Benign/Likely_benign
15	77035902	G	A	G77035902A	PSTPIP1	NM_003978.5(PSTPIP1):c.1086G>A:p.Gln362=	coding	Benign
15	77035914	G	A	G77035914A	PSTPIP1	NM_003978.5(PSTPIP1):c.1098G>A:p.Ala366=	coding	Benign/Likely_benign
15	77035928	C	T	C77035928T	PSTPIP1	NM_003978.5(PSTPIP1):c.1112C>T:p.Thr371Ile	coding	Benign/Likely_benign
15	77035932	G	A	G77035932A	PSTPIP1	NM_003978.5(PSTPIP1):c.1116G>A:p.Ala372=	coding	Benign
15	77037059	G	A	G77037059A	PSTPIP1	NM_003978.5(PSTPIP1):c.1134G>A:p.Leu378=	coding	Benign
15	77037068	C	T	C77037068T	PSTPIP1	NM_003978.5(PSTPIP1):c.1143C>T:p.Ser381=	coding	Benign
15	77037069	G	A	G77037069A	PSTPIP1	NM_003978.5(PSTPIP1):c.1144G>A:p.Ala382Thr	coding	Benign/Likely_benign
15	77037070	C	T	C77037070T	PSTPIP1	NM_003978.5(PSTPIP1):c.1145C>T:p.Ala382Val	coding	Benign/Likely_benign
15	77037107	T	C	T77037107C	PSTPIP1	NM_003978.5(PSTPIP1):c.1182T>C:p.Asp394=	coding	Benign
15	77037131	C	T	C77037131T	PSTPIP1	NM_003978.5(PSTPIP1):c.1206C>T:p.Asn402=	coding	Benign
15	77037146	C	A	C77037146A	PSTPIP1	NM_003978.5(PSTPIP1):c.1221C>A:p.Phe407Leu	coding	Benign/Likely_benign
15	77037158	C	T	C77037158T	PSTPIP1	NM_003978.5(PSTPIP1):c.1233C>T:p.Ser411=	coding	Benign
15	77037214	T	C	T77037214C	PSTPIP1	NM_003978.5(PSTPIP1):c.*38T>C	noncoding	Benign
15	77037227	G	A	G77037227A	PSTPIP1	NM_003978.5(PSTPIP1):c.*51G>A	noncoding	Benign
15	77037269	C	T	C77037269T	PSTPIP1	NM_003978.5(PSTPIP1):c.*93C>T	noncoding	Benign
15	77037297	C	T	C77037297T	PSTPIP1	NM_003978.5(PSTPIP1):c.*121C>T	noncoding	Benign
15	77614077	G	A	G77614077A	LINGO1	NM_032808.7(LINGO1):c.1830C>T:p.Asp610=	coding	Benign
15	77614332	G	A	G77614332A	LINGO1	NM_032808.7(LINGO1):c.1575C>T:p.Pro525=	coding	Benign
15	77614350	G	A	G77614350A	LINGO1	NM_032808.7(LINGO1):c.1557C>T:p.Pro519=	coding	Benign
15	77614797	C	T	C77614797T	LINGO1	NM_032808.7(LINGO1):c.1110G>A:p.Pro370=	coding	Benign
15	77615038	C	T	C77615038T	LINGO1	NM_032808.7(LINGO1):c.869G>A:p.Arg290His	coding	Pathogenic
15	77615044	T	C	T77615044C	LINGO1	NM_032808.7(LINGO1):c.863A>G:p.Tyr288Cys	coding	Pathogenic
15	77615793	C	T	C77615793T	LINGO1	NM_032808.7(LINGO1):c.114G>A:p.Ser38=	coding	Benign
15	78025502	A	G	A78025502G	TBC1D2B	NM_144572.1(TBC1D2B):c.848-5T>C	noncoding	Benign
15	78105804	G	A	G78105804A	CIB2	NM_006383.4(CIB2):c.477C>T:p.Asp159=	coding	Benign
15	78105819	C	T	C78105819T	CIB2	NM_006383.4(CIB2):c.462G>A:p.Glu154=	coding	Benign/Likely_benign
15	78105888	C	T	C78105888T	CIB2	NM_006383.4(CIB2):c.393G>A:p.Thr131=	coding	Benign
15	78105913	A	G	A78105913G	CIB2	NM_006383.4(CIB2):c.368T>C:p.Ile123Thr	coding	Pathogenic
15	78109278	C	T	C78109278T	CIB2	NM_006383.4(CIB2):c.303G>A:p.Ser101=	coding	Benign
15	78109284	G	C	G78109284C	CIB2	NM_006383.4(CIB2):c.297C>G:p.Cys99Trp	coding	Pathogenic
15	78109309	A	G	A78109309G	CIB2	NM_006383.4(CIB2):c.272T>C:p.Phe91Ser	coding	Pathogenic
15	78111171	C	G	C78111171G	CIB2	NM_006383.4(CIB2):c.192G>C:p.Glu64Asp	coding	Pathogenic
15	78111266	G	A	G78111266A	CIB2	NM_006383.4(CIB2):c.97C>T:p.Arg33Ter	coding	Pathogenic
15	78131091	G	A	G78131091A	CIB2	NM_006383.4(CIB2):c.51+74C>T	noncoding	Benign
15	78131168	G	C	G78131168C	CIB2	NM_006383.4(CIB2):c.48C>G:p.Tyr16Ter	coding	Pathogenic
15	78131254	A	C	A78131254C	CIB2	NM_006383.4(CIB2):c.-39T>G	noncoding	Benign
15	78161655	G	A	G78161655A	IDH3A	NM_005530.3(IDH3A):c.364G>A:p.Ala122Thr	coding	Pathogenic
15	78161708	T	A	T78161708A	IDH3A	NM_005530.3(IDH3A):c.417T>A:p.Asp139Glu	coding	Benign
15	78161754	G	T	G78161754T	IDH3A	NM_005530.3(IDH3A):c.463G>T:p.Gly155Ter	coding	Pathogenic
15	78162280	C	T	C78162280T	IDH3A	NM_005530.3(IDH3A):c.524C>T:p.Ala175Val	coding	Pathogenic
15	78163507	G	A	G78163507A	IDH3A	NM_005530.3(IDH3A):c.612G>A:p.Met204Ile	coding	Pathogenic
15	78163717	T	C	T78163717C	IDH3A	NM_005530.3(IDH3A):c.716T>C:p.Met239Thr	coding	Pathogenic
15	78166196	C	A	C78166196A	IDH3A	NM_005530.3(IDH3A):c.911C>A:p.Pro304His	coding	Pathogenic
15	78166223	T	C	T78166223C	IDH3A	NM_005530.3(IDH3A):c.938T>C:p.Met313Thr	coding	Pathogenic
15	78166231	C	T	C78166231T	IDH3A	NM_005530.3(IDH3A):c.946C>T:p.Arg316Cys	coding	Pathogenic
15	78166275	G	A	G78166275A	IDH3A	NM_005530.3(IDH3A):c.990G>A:p.Ala330=	coding	Benign
15	78173606	C	T	C78173606T	ACSBG1	NM_015162.5(ACSBG1):c.2076G>A:p.Ser692=	coding	Benign
15	78173669	G	A	G78173669A	ACSBG1	NM_015162.5(ACSBG1):c.2013C>T:p.Asn671=	coding	Benign
15	78178692	C	T	C78178692T	ACSBG1	NM_015162.5(ACSBG1):c.1624G>A:p.Glu542Lys	coding	Benign
15	78466496	G	T	G78466496T	IREB2	NM_004136.4(IREB2):c.629+7G>T	noncoding	Benign
15	78471845	A	G	A78471845G	IREB2	NM_004136.4(IREB2):c.804A>G:p.Lys268=	coding	Benign
15	78544920	G	A	G78544920A	PSMA4	NM_002789.6(PSMA4):c.339G>A:p.Ala113=	coding	Benign
15	78565773	G	A	G78565773A	CHRNA5	NM_000745.3(CHRNA5):c.54G>A:p.Gln18=	coding	Benign
15	78565812	C	T	C78565812T	CHRNA5	NM_000745.3(CHRNA5):c.93C>T:p.Gly31=	coding	Benign
15	78580878	C	T	C78580878T	CHRNA5	NM_000745.3(CHRNA5):c.174C>T:p.Tyr58=	coding	Benign
15	78589891	A	G	A78589891G	CHRNA5	NM_000745.3(CHRNA5):c.500A>G:p.Lys167Arg	coding	Benign
15	78590384	C	T	C78590384T	CHRNA5	NM_000745.3(CHRNA5):c.993C>T:p.Thr331=	coding	Benign
15	78590479	T	A	T78590479A	CHRNA5	NM_000745.3(CHRNA5):c.1088T>A:p.Leu363Gln	coding	Benign
15	78590564	C	T	C78590564T	CHRNA5	NM_000745.3(CHRNA5):c.1173C>T:p.Asn391=	coding	Benign
15	78590582	C	T	C78590582T	CHRNA5	NM_000745.3(CHRNA5):c.1191C>T:p.Leu397=	coding	Benign
15	78601399	A	C	A78601399C	CHRNA3	NM_000743.5(CHRNA3):c.1243T>G:p.Phe415Val	coding	Benign
15	78601445	G	A	G78601445A	CHRNA3	NM_000743.5(CHRNA3):c.1197C>T:p.Asp399=	coding	Benign
15	78601530	G	A	G78601530A	CHRNA3	NM_000743.5(CHRNA3):c.1112C>T:p.Pro371Leu	coding	Benign
15	78601623	G	C	G78601623C	CHRNA3	NM_000743.5(CHRNA3):c.1019C>G:p.Ser340Ter	coding	Pathogenic
15	78602015	G	T	G78602015T	CHRNA3	NM_000743.5(CHRNA3):c.627C>A:p.Ile209=	coding	Benign
15	78602078	A	G	A78602078G	CHRNA3	NM_000743.5(CHRNA3):c.564T>C:p.Asp188=	coding	Benign
15	78618615	A	C	A78618615C	CHRNA3	NM_000743.5(CHRNA3):c.267+2T>G	noncoding	Pathogenic
15	78629001	G	A	G78629001A	CHRNB4	NM_000750.5(CHRNB4):c.1304C>T:p.Ala435Val	coding	Benign
15	78629181	G	A	G78629181A	CHRNB4	NM_000750.5(CHRNB4):c.1124C>T:p.Thr375Ile	coding	Benign
15	78629237	C	T	C78629237T	CHRNB4	NM_000750.5(CHRNB4):c.1068G>A:p.Pro356=	coding	Benign
15	78629336	C	T	C78629336T	CHRNB4	NM_000750.5(CHRNB4):c.969G>A:p.Ser323=	coding	Benign
15	78629585	G	A	G78629585A	CHRNB4	NM_000750.5(CHRNB4):c.720C>T:p.Ile240=	coding	Benign
15	78629807	G	C	G78629807C	CHRNB4	NM_000750.5(CHRNB4):c.498C>G:p.Asn166Lys	coding	Benign
15	78635521	T	C	T78635521C	CHRNB4	NM_000750.5(CHRNB4):c.122A>G:p.Asn41Ser	coding	Benign
15	78763780	G	A	G78763780A	ADAMTS7	NM_014272.5(ADAMTS7):c.4659C>T:p.Cys1553=	coding	Benign
15	78776190	A	G	A78776190G	ADAMTS7	NM_014272.5(ADAMTS7):c.1704T>C:p.Pro568=	coding	Benign
15	78777539	C	T	C78777539T	ADAMTS7	NM_014272.5(ADAMTS7):c.1372G>A:p.Asp458Asn	coding	Benign
15	78790778	G	A	G78790778A	ADAMTS7	NM_014272.5(ADAMTS7):c.920C>T:p.Thr307Met	coding	Benign
15	78796665	T	C	T78796665C	ADAMTS7	NM_014272.5(ADAMTS7):c.744A>G:p.Val248=	coding	Benign
15	78796695	G	A	G78796695A	ADAMTS7	NM_014272.5(ADAMTS7):c.714C>T:p.Val238=	coding	Benign
15	78796769	A	G	A78796769G	ADAMTS7	NM_014272.5(ADAMTS7):c.640T>C:p.Ser214Pro	coding	Benign
15	78801419	T	C	T78801419C	ADAMTS7	NM_014272.5(ADAMTS7):c.101-872A>G	noncoding	Benign
15	78807196	G	A	G78807196A	ADAMTS7	NM_014272.5(ADAMTS7):c.100+3925C>T	noncoding	Benign
15	78937337	A	G	A78937337G	CTSH	NM_004390.5(CTSH):c.210T>C:p.Asn70=	coding	Benign
15	78937403	C	T	C78937403T	CTSH	NM_004390.5(CTSH):c.144G>A:p.Thr48=	coding	Benign
15	78944915	C	T	C78944915T	CTSH	NM_004390.5(CTSH):c.67G>A:p.Ala23Thr	coding	Benign
15	78944949	C	T	C78944949T	CTSH	NM_004390.5(CTSH):c.33G>A:p.Gly11=	coding	Benign
15	78962183	G	A	G78962183A	RASGRF1	NM_002891.5(RASGRF1):c.3783C>T:p.Tyr1261=	coding	Benign
15	78985067	C	T	C78985067T	RASGRF1	NM_002891.5(RASGRF1):c.3402G>A:p.Ser1134=	coding	Benign
15	78985145	G	A	G78985145A	RASGRF1	NM_002891.5(RASGRF1):c.3324C>T:p.Ser1108=	coding	Benign
15	78991786	G	A	G78991786A	RASGRF1	NM_002891.5(RASGRF1):c.3084C>T:p.Gly1028=	coding	Benign
15	79003846	G	A	G79003846A	RASGRF1	NM_002891.5(RASGRF1):c.2453C>T:p.Thr818Met	coding	Benign
15	79003851	G	A	G79003851A	RASGRF1	NM_002891.5(RASGRF1):c.2448C>T:p.Gly816=	coding	Benign
15	79004044	C	T	C79004044T	RASGRF1	NM_002891.5(RASGRF1):c.2255G>A:p.Ser752Asn	coding	Benign
15	79015338	C	T	C79015338T	RASGRF1	NM_002891.5(RASGRF1):c.1815G>A:p.Pro605=	coding	Benign
15	79017760	C	T	C79017760T	RASGRF1	NM_002891.5(RASGRF1):c.1743+10G>A	noncoding	Benign
15	79017896	G	A	G79017896A	RASGRF1	NM_002891.5(RASGRF1):c.1617C>T:p.Ser539=	coding	Benign
15	79027823	G	T	G79027823T	RASGRF1	NM_002891.5(RASGRF1):c.1299C>A:p.Ile433=	coding	Benign
15	79032231	G	A	G79032231A	RASGRF1	NM_002891.5(RASGRF1):c.1044C>T:p.Ala348=	coding	Benign
15	79049598	C	A	C79049598A	RASGRF1	NM_002891.5(RASGRF1):c.532-10G>T	noncoding	Benign
15	79090391	G	A	G79090391A	RASGRF1	NM_002891.5(RASGRF1):c.108C>T:p.Asn36=	coding	Benign
15	79456231	G	A	G79456231A	MINAR1	NM_015206.3(MINAR1):c.84G>A:p.Gln28=	coding	Benign
15	79457617	G	A	G79457617A	MINAR1	NM_015206.3(MINAR1):c.1470G>A:p.Leu490=	coding	Benign
15	79463063	G	A	G79463063A	MINAR1	NM_015206.3(MINAR1):c.2299-4G>A	noncoding	Benign
15	79463261	C	T	C79463261T	MINAR1	NM_015206.3(MINAR1):c.2493C>T:p.Thr831=	coding	Benign
15	79845402	G	A	G79845402A	MTHFS	NM_006441.4(MTHFS):c.420C>T:p.Asp140=	coding	Benign
15	79896882	A	G	A79896882G	MTHFS	NM_001199758.1(MTHFS):c.-55+279T>C	coding	Pathogenic
15	79961182	A	C	A79961182C	BCL2A1	NM_004049.4(BCL2A1):c.421-8T>G	noncoding	Benign
15	79971021	C	T	C79971021T	BCL2A1	NM_004049.4(BCL2A1):c.99G>A:p.Thr33=	coding	Benign
15	80152950	G	C	G80152950C	FAH	NM_001374377.1(FAH):c.-30+45G>C	noncoding	Benign
15	80153021	C	T	C80153021T	FAH	NM_000137.3(FAH):c.-34C>T	noncoding	Benign
15	80153055	A	G	A80153055G	FAH	NM_000137.3(FAH):c.1A>G:p.Met1Val	coding	Pathogenic
15	80153057	G	A	G80153057A	FAH	NM_000137.4(FAH):c.3G>A:p.Met1Ile	coding	Pathogenic
15	80153101	A	T	A80153101T	FAH	NM_000137.3(FAH):c.47A>T:p.Asn16Ile	coding	Pathogenic
15	80158041	G	A	G80158041A	FAH	NM_000137.3(FAH):c.82-19G>A	noncoding	Benign
15	80158047	G	A	G80158047A	FAH	NM_000137.3(FAH):c.82-13G>A	noncoding	Benign
15	80158117	A	G	A80158117G	FAH	NM_000137.3(FAH):c.139A>G:p.Lys47Glu	coding	Benign
15	80158143	C	T	C80158143T	FAH	NM_000137.3(FAH):c.165C>T:p.Leu55=	coding	Benign
15	80158159	G	T	G80158159T	FAH	NM_000137.4(FAH):c.181G>T:p.Val61Phe	coding	Benign/Likely_benign
15	80158170	G	T	G80158170T	FAH	NM_000137.3(FAH):c.192G>T:p.Gln64His	coding	Pathogenic
15	80158171	G	T	G80158171T	FAH	NM_000137.3(FAH):c.192+1G>T	coding	Pathogenic/Likely_pathogenic
15	80159733	T	C	T80159733C	FAH	NM_000137.3(FAH):c.193-23T>C	noncoding	Benign
15	80159830	G	C	G80159830C	FAH	NM_000137.3(FAH):c.267G>C:p.Leu89=	coding	Benign
15	80159926	G	A	G80159926A	FAH	NM_000137.3(FAH):c.314+49G>A	noncoding	Benign
15	80160396	G	A	G80160396A	FAH	NM_000137.3(FAH):c.315-14G>A	noncoding	Benign/Likely_benign
15	80162305	A	G	A80162305G	FAH	NM_000137.4(FAH):c.424A>G:p.Arg142Gly	coding	Pathogenic
15	80162365	G	A	G80162365A	FAH	NM_000137.3(FAH):c.455+29G>A	noncoding	Benign
15	80168032	C	T	C80168032T	FAH	NM_000137.3(FAH):c.456-20C>T	noncoding	Benign
15	80168052	G	A	G80168052A	FAH	NM_000137.3(FAH):c.456G>A:p.Trp152Ter	coding	Pathogenic/Likely_pathogenic
15	80168079	C	T	C80168079T	FAH	NM_000137.3(FAH):c.483C>T:p.Gly161=	coding	Benign
15	80168116	C	T	C80168116T	FAH	NM_000137.3(FAH):c.520C>T:p.Arg174Ter	coding	Pathogenic/Likely_pathogenic
15	80168139	A	G	A80168139G	FAH	NM_000137.4(FAH):c.543A>G:p.Lys181=	coding	Benign
15	80168182	A	G	A80168182G	FAH	NM_000137.3(FAH):c.553+33A>G	noncoding	Benign
15	80168249	C	T	C80168249T	FAH	NM_000137.4(FAH):c.554-15C>T	noncoding	Benign
15	80168263	G	T	G80168263T	FAH	NM_000137.3(FAH):c.554-1G>T	noncoding	Pathogenic
15	80172240	A	T	A80172240T	FAH	NM_000137.3(FAH):c.698A>T:p.Asp233Val	coding	Pathogenic
15	80172250	T	G	T80172250G	FAH	NM_000137.3(FAH):c.706+2T>G	noncoding	Pathogenic/Likely_pathogenic
15	80173013	G	A	G80173013A	FAH	NM_000137.3(FAH):c.707-1G>A	noncoding	Pathogenic
15	80173013	G	C	G80173013C	FAH	NM_000137.4(FAH):c.707-1G>C	noncoding	Pathogenic
15	80173016	C	T	C80173016T	FAH	NM_000137.3(FAH):c.709C>T:p.Arg237Ter	coding	Pathogenic
15	80173033	G	A	G80173033A	FAH	NM_000137.4(FAH):c.726G>A:p.Trp242Ter	coding	Pathogenic/Likely_pathogenic
15	80173089	C	T	C80173089T	FAH	NM_000137.3(FAH):c.782C>T:p.Pro261Leu	coding	Pathogenic/Likely_pathogenic
15	80173093	G	A	G80173093A	FAH	NM_000137.3(FAH):c.786G>A:p.Trp262Ter	coding	Pathogenic
15	80173143	A	G	A80173143G	FAH	NM_000137.3(FAH):c.836A>G:p.Gln279Arg	coding	Pathogenic
15	80175033	G	A	G80175033A	FAH	NM_000137.3(FAH):c.855G>A:p.Pro285=	coding	Benign
15	80177544	A	G	A80177544G	FAH	NM_000137.3(FAH):c.921A>G:p.Gly307=	coding	Benign
15	80180089	C	A	C80180089A	FAH	NM_000137.3(FAH):c.961-35C>A	noncoding	Benign
15	80180126	C	A	C80180126A	FAH	NM_000137.3(FAH):c.963C>A:p.Tyr321Ter	coding	Pathogenic
15	80180145	C	T	C80180145T	FAH	NM_000137.4(FAH):c.982C>T:p.Gln328Ter	coding	Pathogenic
15	80180172	G	A	G80180172A	FAH	NM_000137.3(FAH):c.1009G>A:p.Gly337Ser	coding	Pathogenic/Likely_pathogenic
15	80180188	C	T	C80180188T	FAH	NM_000137.3(FAH):c.1025C>T:p.Pro342Leu	coding	Pathogenic
15	80180190	G	A	G80180190A	FAH	NM_000137.3(FAH):c.1027G>A:p.Gly343Arg	coding	Pathogenic/Likely_pathogenic
15	80180190	G	T	G80180190T	FAH	NM_000137.3(FAH):c.1027G>T:p.Gly343Trp	coding	Pathogenic/Likely_pathogenic
15	80180219	C	T	C80180219T	FAH	NM_000137.3(FAH):c.1056C>T:p.Ser352=	coding	Benign
15	80180230	G	A	G80180230A	FAH	NM_000137.4(FAH):c.1062+5G>A	noncoding	Pathogenic
15	80181041	G	A	G80181041A	FAH	NM_000137.4(FAH):c.1063-1G>A	noncoding	Pathogenic
15	80181048	G	T	G80181048T	FAH	NM_000137.3(FAH):c.1069G>T:p.Glu357Ter	coding	Pathogenic
15	80181069	G	T	G80181069T	FAH	NM_000137.3(FAH):c.1090G>T:p.Glu364Ter	coding	Pathogenic
15	80181077	G	A	G80181077A	FAH	NM_000137.3(FAH):c.1098G>A:p.Ser366=	coding	Benign/Likely_benign
15	80181160	G	A	G80181160A	FAH	NM_000137.4(FAH):c.1180+1G>A	coding	Pathogenic
15	80181163	A	G	A80181163G	FAH	NM_000137.3(FAH):c.1180+4A>G	noncoding	Benign
15	80186158	C	T	C80186158T	FAH	NM_000137.3(FAH):c.1209C>T:p.Ile403=	coding	Benign
15	80186159	G	A	G80186159A	FAH	NM_000137.3(FAH):c.1210G>A:p.Gly404Ser	coding	Pathogenic
15	80186208	G	A	G80186208A	FAH	NM_000137.3(FAH):c.1259G>A:p.Ter420=	coding	Benign/Likely_benign
15	80186247	A	C	A80186247C	FAH	NM_000137.3(FAH):c.*38A>C	noncoding	Benign
15	80186249	C	T	C80186249T	FAH	NM_000137.3(FAH):c.*40C>T	noncoding	Benign
15	80186297	C	T	C80186297T	FAH	NM_000137.3(FAH):c.*88C>T	noncoding	Benign
15	80186303	T	C	T80186303C	FAH	NM_000137.3(FAH):c.*94T>C	noncoding	Benign
15	80186493	C	G	C80186493G	FAH	NM_000137.3(FAH):c.*284C>G	noncoding	Benign
15	80186519	T	A	T80186519A	FAH	NM_000137.3(FAH):c.*310T>A	noncoding	Benign
15	80470416	C	T	C80470416T	ARNT2	NM_014862.4(ARNT2):c.393C>T:p.Ser131=	coding	Benign
15	80575064	G	A	G80575064A	ARNT2	NM_014862.4(ARNT2):c.1467G>A:p.Gln489=	coding	Benign
15	80581397	A	G	A80581397G	ARNT2	NM_014862.4(ARNT2):c.1911A>G:p.Pro637=	coding	Benign
15	80591656	C	T	C80591656T	ARNT2	NM_014862.4(ARNT2):c.2007C>T:p.Ser669=	coding	Benign
15	80593686	G	A	G80593686A	ARNT2	NM_014862.4(ARNT2):c.2142G>A:p.Pro714=	coding	Benign
15	80879723	G	A	G80879723A	CEMIP	NM_001293298.2(CEMIP):c.249G>A:p.Leu83=	coding	Benign
15	80880993	G	A	G80880993A	CEMIP	NM_001293298.2(CEMIP):c.474G>A:p.Lys158=	coding	Benign
15	80888783	T	C	T80888783C	CEMIP	NM_001293298.2(CEMIP):c.951T>C:p.Ser317=	coding	Benign
15	80889473	G	A	G80889473A	CEMIP	NM_001293298.2(CEMIP):c.967G>A:p.Val323Met	coding	Benign
15	80895880	C	G	C80895880G	CEMIP	NM_001293298.2(CEMIP):c.1231C>G:p.Leu411Val	coding	Benign/Likely_benign
15	80922068	C	T	C80922068T	CEMIP	NM_001293298.2(CEMIP):c.2133C>T:p.Tyr711=	coding	Benign
15	80924683	G	A	G80924683A	CEMIP	NM_001293298.2(CEMIP):c.2265G>A:p.Pro755=	coding	Benign
15	80925683	A	G	A80925683G	CEMIP	NM_001293298.2(CEMIP):c.2348A>G:p.His783Arg	coding	Benign
15	80929082	C	T	C80929082T	CEMIP	NM_001293298.2(CEMIP):c.2520C>T:p.Gly840=	coding	Benign
15	80936844	G	A	G80936844A	CEMIP	NM_001293298.2(CEMIP):c.3180G>A:p.Thr1060=	coding	Benign
15	80936851	G	A	G80936851A	CEMIP	NM_001293298.2(CEMIP):c.3187G>A:p.Ala1063Thr	coding	Benign
15	80936892	G	A	G80936892A	CEMIP	NM_001293298.2(CEMIP):c.3221+7G>A	noncoding	Benign
15	80942263	C	T	C80942263T	CEMIP	NM_001293298.2(CEMIP):c.3625C>T:p.His1209Tyr	coding	Benign
15	80943022	G	A	G80943022A	CEMIP	NM_001293298.2(CEMIP):c.3777G>A:p.Val1259=	coding	Benign
15	80943064	A	G	A80943064G	CEMIP	NM_001293298.2(CEMIP):c.3819A>G:p.Pro1273=	coding	Benign
15	80979248	G	A	G80979248A	MESD	NM_015154.3(MESD):c.676C>T:p.Arg226Ter	coding	Pathogenic
15	81299992	G	A	G81299992A	IL16	NM_001172128.2(IL16):c.2666G>A:p.Arg889Gln	coding	Benign
15	81300079	G	C	G81300079C	IL16	NM_001172128.2(IL16):c.2753G>C:p.Gly918Ala	coding	Benign
15	81300140	G	A	G81300140A	IL16	NM_001172128.2(IL16):c.2814G>A:p.Pro938=	coding	Benign
15	81300405	T	A	T81300405A	IL16	NM_001172128.2(IL16):c.3079T>A:p.Ser1027Thr	coding	Benign
15	81301416	C	T	C81301416T	IL16	NM_001172128.2(IL16):c.3222C>T:p.Ser1074=	coding	Benign
15	81305931	G	A	G81305931A	IL16	NM_001172128.2(IL16):c.3444G>A:p.Gly1148=	coding	Benign
15	81332588	G	T	G81332588T	TMC3	NM_001080532.3(TMC3):c.3134C>A:p.Ser1045Ter	coding	Benign
15	82138804	C	T	C82138804T	EFL1	NM_024580.6(EFL1):c.3028G>A:p.Val1010Ile	coding	Benign
15	82151809	A	T	A82151809T	EFL1	NM_024580.6(EFL1):c.2645T>A:p.Met882Lys	coding	Pathogenic
15	82151813	G	T	G82151813T	EFL1	NM_024580.6(EFL1):c.2641C>A:p.Pro881Thr	coding	Benign
15	82152112	G	A	G82152112A	EFL1	NM_024580.6(EFL1):c.2342C>T:p.Ser781Phe	coding	Benign
15	82152186	C	A	C82152186A	EFL1	NM_024580.6(EFL1):c.2268G>T:p.Met756Ile	coding	Benign
15	82219814	G	A	G82219814A	EFL1	NM_024580.6(EFL1):c.1449C>T:p.Asp483=	coding	Benign
15	82225190	T	C	T82225190C	EFL1	NM_024580.6(EFL1):c.1267A>G:p.Lys423Glu	coding	Benign
15	82228234	G	A	G82228234A	EFL1	NM_024580.6(EFL1):c.1026C>T:p.Asn342=	coding	Benign
15	82238445	A	G	A82238445G	EFL1	NM_024580.6(EFL1):c.593T>C:p.Val198Ala	coding	Benign
15	82241378	C	G	C82241378G	EFL1	NM_024580.6(EFL1):c.270G>C:p.Leu90=	coding	Benign
15	82241401	T	C	T82241401C	EFL1	NM_024580.6(EFL1):c.247A>G:p.Asn83Asp	coding	Benign
15	82344706	C	T	C82344706T	GOLGA6L10	NM_001164465.3(GOLGA6L10):c.1154G>A:p.Arg385Gln	coding	Benign
15	82344779	C	T	C82344779T	GOLGA6L10	NM_001164465.3(GOLGA6L10):c.1081G>A:p.Glu361Lys	coding	Benign
15	82538982	A	C	A82538982C	RPS17	NM_001021.6(RPS17):c.159T>G:p.Tyr53Ter	coding	Pathogenic
15	82540427	A	C	A82540427C	RPS17	NM_001021.6(RPS17):c.2T>G:p.Met1Arg	coding	Pathogenic
15	82555946	T	C	T82555946C	CPEB1	NM_030594.5(CPEB1):c.783A>G:p.Pro261=	coding	Benign
15	82659835	G	A	G82659835A	AP3B2	NM_001278512.2(AP3B2):c.3155+10C>T	noncoding	Benign
15	82661832	C	T	C82661832T	AP3B2	NM_001278512.2(AP3B2):c.3009G>A:p.Lys1003=	coding	Benign
15	82661932	G	A	G82661932A	AP3B2	NM_001278512.2(AP3B2):c.2919-10C>T	noncoding	Benign
15	82662735	T	C	T82662735C	AP3B2	NM_001278512.2(AP3B2):c.2792A>G:p.Lys931Arg	coding	Benign
15	82662908	T	C	T82662908C	AP3B2	NM_001278512.2(AP3B2):c.2619A>G:p.Val873=	coding	Benign
15	82679729	C	T	C82679729T	AP3B2	NM_001278512.2(AP3B2):c.1182G>A:p.Lys394=	coding	Pathogenic/Likely_pathogenic
15	82680552	C	T	C82680552T	AP3B2	NM_001278512.2(AP3B2):c.975G>A:p.Ala325=	coding	Benign
15	82680840	C	T	C82680840T	AP3B2	NM_001278512.2(AP3B2):c.768G>A:p.Gln256=	coding	Benign
15	82680885	G	A	G82680885A	AP3B2	NM_001278512.2(AP3B2):c.723C>T:p.Ser241=	coding	Benign
15	82681025	G	A	G82681025A	AP3B2	NM_001278512.2(AP3B2):c.589-6C>T	noncoding	Benign
15	82688787	C	T	C82688787T	AP3B2	NM_001278512.2(AP3B2):c.309G>A:p.Glu103=	coding	Benign
15	82689223	G	A	G82689223A	AP3B2	NM_001278512.2(AP3B2):c.199C>T:p.Arg67Ter	coding	Pathogenic
15	82817948	G	A	G82817948A	WHAMM	NM_001080435.3(WHAMM):c.963G>A:p.Ala321=	coding	Benign
15	82830720	C	T	C82830720T	WHAMM	NM_001080435.3(WHAMM):c.1763C>T:p.Pro588Leu	coding	Benign
15	82849766	G	A	G82849766A	HOMER2	NM_004839.4(HOMER2):c.981C>T:p.Asp327=	coding	Benign
15	82849950	G	A	G82849950A	HOMER2	NM_004839.4(HOMER2):c.844-47C>T	noncoding	Benign
15	82851175	G	A	G82851175A	HOMER2	NM_004839.4(HOMER2):c.819C>T:p.Cys273=	coding	Benign
15	82851230	T	C	T82851230C	HOMER2	NM_004839.4(HOMER2):c.764A>G:p.Glu255Gly	coding	Benign
15	82854635	C	T	C82854635T	HOMER2	NM_004839.4(HOMER2):c.651+9G>A	noncoding	Benign
15	82854672	C	T	C82854672T	HOMER2	NM_004839.4(HOMER2):c.623G>A:p.Arg208His	coding	Benign
15	82854741	C	G	C82854741G	HOMER2	NM_004839.4(HOMER2):c.554G>C:p.Arg185Pro	coding	Pathogenic
15	82864161	T	A	T82864161A	HOMER2	NM_004839.4(HOMER2):c.387+6A>T	noncoding	Benign
15	82892845	C	G	C82892845G	HOMER2	NM_004839.4(HOMER2):c.6-4G>C	noncoding	Benign
15	83258068	T	C	T83258068C	BNC1	NM_001717.4(BNC1):c.2359A>G:p.Ser787Gly	coding	Benign
15	83264675	G	A	G83264675A	BNC1	NM_001717.4(BNC1):c.576C>T:p.Ser192=	coding	Benign
15	83858757	C	G	C83858757G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.728-9C>G	noncoding	Benign
15	83942935	C	T	C83942935T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2343C>T:p.Asn781=	coding	Benign
15	83970615	T	C	T83970615C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2622T>C:p.Ser874=	coding	Benign
15	83982772	C	A	C83982772A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3144C>A:p.Asp1048Glu	coding	Benign
15	83983114	G	A	G83983114A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3486G>A:p.Ser1162=	coding	Benign
15	84031351	T	C	T84031351C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4673T>C:p.Met1558Thr	coding	Benign
15	84031356	C	T	C84031356T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4678C>T:p.Arg1560Cys	coding	Benign
15	84036991	C	G	C84036991G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4969+4C>G	coding	Benign
15	84037766	G	A	G84037766A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.5036G>A:p.Arg1679His	coding	Benign
15	84643568	G	A	G84643568A	WDR73	NM_032856.5(WDR73):c.1039C>T:p.His347Tyr	coding	Pathogenic
15	84643596	C	A	C84643596A	WDR73	NM_032856.5(WDR73):c.1011G>T:p.Gly337=	coding	Benign
15	84643667	G	A	G84643667A	WDR73	NM_032856.5(WDR73):c.940C>T:p.Gln314Ter	coding	Pathogenic
15	84645463	G	A	G84645463A	WDR73	NM_032856.5(WDR73):c.883+8C>T	noncoding	Benign
15	84645651	G	A	G84645651A	WDR73	NM_032856.5(WDR73):c.703C>T:p.Gln235Ter	coding	Pathogenic
15	84645673	A	T	A84645673T	WDR73	NM_032856.5(WDR73):c.681T>A:p.Cys227Ter	coding	Pathogenic
15	84645728	C	T	C84645728T	WDR73	NM_032856.5(WDR73):c.626G>A:p.Trp209Ter	coding	Pathogenic
15	84645763	T	C	T84645763C	WDR73	NM_032856.5(WDR73):c.591A>G:p.Ser197=	coding	Benign
15	84646280	C	T	C84646280T	WDR73	NM_032856.5(WDR73):c.421G>A:p.Val141Ile	coding	Benign
15	84647906	C	T	C84647906T	WDR73	NM_032856.5(WDR73):c.336G>A:p.Gln112=	coding	Benign
15	84648595	G	A	G84648595A	WDR73	NM_032856.5(WDR73):c.229C>T:p.Arg77Cys	coding	Benign
15	84652783	A	C	A84652783C	WDR73	NM_032856.5(WDR73):c.129T>G:p.Tyr43Ter	coding	Pathogenic
15	84653700	C	G	C84653700G	WDR73	NM_032856.5(WDR73):c.42-1G>C	coding	Pathogenic
15	84783567	A	G	A84783567G	ZNF592	NM_014630.3(ZNF592):c.892A>G:p.Ser298Gly	coding	Benign
15	84783724	G	A	G84783724A	ZNF592	NM_014630.3(ZNF592):c.1049G>A:p.Arg350His	coding	Benign
15	84790722	A	G	A84790722G	ZNF592	NM_014630.3(ZNF592):c.2238A>G:p.Gln746=	coding	Benign/Likely_benign
15	84798628	G	A	G84798628A	ZNF592	NM_014630.3(ZNF592):c.2777G>A:p.Ser926Asn	coding	Benign/Likely_benign
15	84798759	C	T	C84798759T	ZNF592	NM_014630.3(ZNF592):c.2908C>T:p.Arg970Cys	coding	Benign
15	84801985	C	T	C84801985T	ZNF592	NM_014630.3(ZNF592):c.3396C>T:p.Ala1132=	coding	Benign
15	84816773	A	C	A84816773C	ALPK3	NM_020778.4(ALPK3):c.-74A>C	noncoding	Benign
15	84816870	T	C	T84816870C	ALPK3	NM_020778.4(ALPK3):c.24T>C:p.Tyr8=	coding	Benign
15	84817038	C	A	C84817038A	ALPK3	NC_000015.10:g.84817038C>A	coding	Benign
15	84817040	A	G	A84817040G	ALPK3	NM_020778.4(ALPK3):c.194A>G:p.His65Arg	coding	Benign
15	84817556	C	T	C84817556T	ALPK3	NM_020778.4(ALPK3):c.710C>T:p.Ala237Val	coding	Benign
15	84817811	T	G	T84817811G	ALPK3	NM_020778.4(ALPK3):c.749+216T>G	noncoding	Benign
15	84827366	C	G	C84827366G	ALPK3	NM_020778.4(ALPK3):c.789-118C>G	noncoding	Benign
15	84838962	C	A	C84838962A	ALPK3	NM_020778.4(ALPK3):c.911-18C>A	noncoding	Benign
15	84839914	C	G	C84839914G	ALPK3	NM_020778.4(ALPK3):c.1241C>G:p.Thr414Ser	coding	Benign
15	84840163	A	G	A84840163G	ALPK3	NM_020778.4(ALPK3):c.1490A>G:p.Tyr497Cys	coding	Benign
15	84840409	G	A	G84840409A	ALPK3	NM_020778.4(ALPK3):c.1736G>A:p.Gly579Glu	coding	Benign
15	84840478	A	G	A84840478G	ALPK3	NM_020778.4(ALPK3):c.1805A>G:p.Gln602Arg	coding	Benign
15	84840608	G	A	G84840608A	ALPK3	NM_020778.4(ALPK3):c.1935G>A:p.Gly645=	coding	Benign
15	84840661	G	A	G84840661A	ALPK3	NM_020778.4(ALPK3):c.1988G>A:p.Gly663Asp	coding	Benign/Likely_benign
15	84840801	T	G	T84840801G	ALPK3	NM_020778.4(ALPK3):c.2128T>G:p.Cys710Gly	coding	Benign/Likely_benign
15	84841200	A	G	A84841200G	ALPK3	NM_020778.4(ALPK3):c.2259+268A>G	noncoding	Benign
15	84856218	T	C	T84856218C	ALPK3	NM_020778.4(ALPK3):c.2260-174T>C	noncoding	Benign
15	84856414	C	T	C84856414T	ALPK3	NM_020778.4(ALPK3):c.2282C>T:p.Thr761Met	coding	Benign
15	84856448	T	C	T84856448C	ALPK3	NM_020778.4(ALPK3):c.2316T>C:p.Asp772=	coding	Benign
15	84856915	A	G	A84856915G	ALPK3	NM_020778.4(ALPK3):c.2783A>G:p.Gln928Arg	coding	Benign
15	84857105	T	C	T84857105C	ALPK3	NM_020778.4(ALPK3):c.2973T>C:p.Thr991=	coding	Benign/Likely_benign
15	84857169	G	A	G84857169A	ALPK3	NM_020778.4(ALPK3):c.3037G>A:p.Glu1013Lys	coding	Benign
15	84857268	C	T	C84857268T	ALPK3	NM_020778.4(ALPK3):c.3136C>T:p.Pro1046Ser	coding	Benign
15	84857333	C	T	C84857333T	ALPK3	NM_020778.4(ALPK3):c.3201C>T:p.Pro1067=	coding	Benign/Likely_benign
15	84857335	C	T	C84857335T	ALPK3	NM_020778.4(ALPK3):c.3203C>T:p.Thr1068Met	coding	Benign/Likely_benign
15	84857549	C	G	C84857549G	ALPK3	NM_020778.4(ALPK3):c.3417C>G:p.Ala1139=	coding	Benign
15	84857676	G	T	G84857676T	ALPK3	NM_020778.4(ALPK3):c.3544G>T:p.Gly1182Ter	coding	Pathogenic
15	84857924	G	A	G84857924A	ALPK3	NM_020778.4(ALPK3):c.3792G>A:p.Trp1264Ter	coding	Pathogenic
15	84858028	C	T	C84858028T	ALPK3	NM_020778.4(ALPK3):c.3896C>T:p.Pro1299Leu	coding	Benign
15	84858100	A	G	A84858100G	ALPK3	NM_020778.4(ALPK3):c.3968A>G:p.Gln1323Arg	coding	Benign
15	84858188	T	C	T84858188C	ALPK3	NM_020778.4(ALPK3):c.4056T>C:p.Gly1352=	coding	Benign
15	84858366	C	T	C84858366T	ALPK3	NM_020778.4(ALPK3):c.4234C>T:p.Arg1412Trp	coding	Benign
15	84858449	C	T	C84858449T	ALPK3	NM_020778.4(ALPK3):c.4317C>T:p.Asp1439=	coding	Benign
15	84859008	C	T	C84859008T	ALPK3	NM_020778.4(ALPK3):c.4424-235C>T	noncoding	Benign
15	84859200	G	A	G84859200A	ALPK3	NM_020778.4(ALPK3):c.4424-43G>A	noncoding	Benign
15	84859379	G	A	G84859379A	ALPK3	NM_020778.4(ALPK3):c.4560G>A:p.Glu1520=	coding	Benign
15	84859564	A	G	A84859564G	ALPK3	NM_020778.4(ALPK3):c.4571+174A>G	noncoding	Benign
15	84859874	C	A	C84859874A	ALPK3	NM_020778.4(ALPK3):c.4670C>A:p.Ala1557Asp	coding	Benign
15	84860109	C	T	C84860109T	ALPK3	NM_020778.4(ALPK3):c.4735+37C>T	noncoding	Benign
15	84860265	G	A	G84860265A	ALPK3	NM_020778.4(ALPK3):c.4735+193G>A	noncoding	Benign
15	84862405	A	T	A84862405T	ALPK3	NM_020778.4(ALPK3):c.4736-230A>T	noncoding	Benign
15	84862425	G	C	G84862425C	ALPK3	NM_020778.4(ALPK3):c.4736-210G>C	noncoding	Benign
15	84862634	G	A	G84862634A	ALPK3	NM_020778.4(ALPK3):c.4736-1G>A	noncoding	Pathogenic
15	84862764	T	C	T84862764C	ALPK3	NM_020778.4(ALPK3):c.4865T>C:p.Leu1622Pro	coding	Benign
15	84863263	A	C	A84863263C	ALPK3	NM_020778.4(ALPK3):c.5017-289A>C	noncoding	Benign
15	84863615	G	A	G84863615A	ALPK3	NM_020778.4(ALPK3):c.5080G>A:p.Ala1694Thr	coding	Benign/Likely_benign
15	84864241	A	G	A84864241G	ALPK3	NM_020778.4(ALPK3):c.5106-201A>G	noncoding	Benign
15	84864333	A	C	A84864333C	ALPK3	NM_020778.4(ALPK3):c.5106-109A>C	noncoding	Benign
15	84864630	G	A	G84864630A	ALPK3	NM_020778.4(ALPK3):c.5294G>A:p.Trp1765Ter	coding	Pathogenic
15	84867673	C	T	C84867673T	ALPK3	NM_020778.4(ALPK3):c.5378+308C>T	noncoding	Benign
15	84868350	C	T	C84868350T	ALPK3	NM_020778.4(ALPK3):c.5618C>T:p.Ala1873Val	coding	Benign/Likely_benign
15	84868429	G	A	G84868429A	ALPK3	NM_020778.4(ALPK3):c.5697G>A:p.Glu1899=	coding	Benign/Likely_benign
15	84868461	C	T	C84868461T	ALPK3	NM_020778.4(ALPK3):c.*5C>T	noncoding	Benign
15	84887769	C	T	C84887769T	SLC28A1	NM_004213.5(SLC28A1):c.9C>T:p.Asn3=	coding	Benign
15	84905565	A	T	A84905565T	SLC28A1	NM_004213.5(SLC28A1):c.630A>T:p.Gly210=	coding	Benign
15	85579068	G	A	G85579068A	AKAP13	NM_007200.5(AKAP13):c.1000G>A:p.Glu334Lys	coding	Benign
15	85579298	G	A	G85579298A	AKAP13	NM_007200.5(AKAP13):c.1230G>A:p.Lys410=	coding	Benign
15	85579559	G	A	G85579559A	AKAP13	NM_007200.5(AKAP13):c.1491G>A:p.Val497=	coding	Benign
15	85579854	A	G	A85579854G	AKAP13	NM_007200.5(AKAP13):c.1786A>G:p.Lys596Glu	coding	Benign
15	85579985	A	G	A85579985G	AKAP13	NM_007200.5(AKAP13):c.1917A>G:p.Ser639=	coding	Benign
15	85580813	G	C	G85580813C	AKAP13	NM_007200.5(AKAP13):c.2745G>C:p.Leu915=	coding	Benign
15	85581284	T	C	T85581284C	AKAP13	NM_007200.5(AKAP13):c.3216T>C:p.Thr1072=	coding	Benign
15	85581593	G	A	G85581593A	AKAP13	NM_007200.5(AKAP13):c.3525G>A:p.Glu1175=	coding	Benign
15	85581848	C	T	C85581848T	AKAP13	NM_007200.5(AKAP13):c.3780C>T:p.Ile1260=	coding	Benign
15	85655524	C	T	C85655524T	AKAP13	NM_007200.5(AKAP13):c.4482C>T:p.Ser1494=	coding	Benign
15	85655615	A	G	A85655615G	AKAP13	NM_007200.5(AKAP13):c.4573A>G:p.Ser1525Gly	coding	Benign
15	85719152	G	A	G85719152A	AKAP13	NM_007200.5(AKAP13):c.6078G>A:p.Ala2026=	coding	Benign
15	85727167	A	G	A85727167G	AKAP13	NM_007200.5(AKAP13):c.6924A>G:p.Pro2308=	coding	Benign
15	85735092	G	A	G85735092A	AKAP13	NM_007200.5(AKAP13):c.7383G>A:p.Leu2461=	coding	Benign
15	85741469	C	T	C85741469T	AKAP13	NM_007200.5(AKAP13):c.8032C>T:p.Arg2678Trp	coding	Benign
15	86674322	G	C	G86674322C	AGBL1	NM_152336.4(AGBL1):c.3107G>C:p.Cys1036Ser	coding	Pathogenic
15	87940635	A	G	A87940635G	NTRK3	NM_001012338.2(NTRK3):c.1704T>C:p.Leu568=	coding	Benign
15	87940674	G	A	G87940674A	NTRK3	NM_001012338.2(NTRK3):c.1665C>T:p.Ala555=	coding	Benign
15	88032939	C	T	C88032939T	NTRK3	NM_001012338.2(NTRK3):c.1503G>A:p.Val501=	coding	Benign
15	88032954	G	T	G88032954T	NTRK3	NM_001012338.2(NTRK3):c.1488C>A:p.Ala496=	coding	Benign
15	88136004	A	G	A88136004G	NTRK3	NM_001012338.2(NTRK3):c.802T>C:p.Leu268=	coding	Benign
15	88136458	G	C	G88136458C	NTRK3	NM_001012338.2(NTRK3):c.765+9C>G	noncoding	Benign
15	88639462	C	T	C88639462T	ISG20	NM_002201.6(ISG20):c.96C>T:p.Asn32=	coding	Benign
15	88639495	C	T	C88639495T	ISG20	NM_002201.6(ISG20):c.129C>T:p.Ile43=	coding	Benign
15	88652307	C	A	C88652307A	ISG20	NM_002201.6(ISG20):c.426C>A:p.Ile142=	coding	Benign
15	88655432	C	T	C88655432T	ISG20	NM_002201.6(ISG20):c.447C>T:p.His149=	coding	Benign
15	88655491	G	A	G88655491A	ISG20	NM_002201.6(ISG20):c.506G>A:p.Arg169Gln	coding	Benign
15	88836285	A	T	A88836285T	ACAN	NM_001369268.1(ACAN):c.70+9A>T	noncoding	Benign
15	88838778	C	T	C88838778T	ACAN	NM_001369268.1(ACAN):c.186C>T:p.Thr62=	coding	Benign
15	88838796	A	C	A88838796C	ACAN	NM_001369268.1(ACAN):c.204A>C:p.Pro68=	coding	Benign
15	88838815	T	C	T88838815C	ACAN	NM_001369268.1(ACAN):c.223T>C:p.Trp75Arg	coding	Pathogenic
15	88838822	G	A	G88838822A	ACAN	NM_001369268.1(ACAN):c.230G>A:p.Arg77His	coding	Benign/Likely_benign
15	88838986	C	T	C88838986T	ACAN	NM_001369268.1(ACAN):c.394C>T:p.Arg132Cys	coding	Benign
15	88839024	C	A	C88839024A	ACAN	NM_001369268.1(ACAN):c.432C>A:p.Ala144=	coding	Benign
15	88839030	G	A	G88839030A	ACAN	NM_001369268.1(ACAN):c.438G>A:p.Leu146=	coding	Benign
15	88840109	G	A	G88840109A	ACAN	NM_001369268.1(ACAN):c.552G>A:p.Thr184=	coding	Benign
15	88840139	C	T	C88840139T	ACAN	NM_001369268.1(ACAN):c.582C>T:p.Asp194=	coding	Benign
15	88841854	C	T	C88841854T	ACAN	NM_001369268.1(ACAN):c.744C>T:p.Ala248=	coding	Benign
15	88843421	G	A	G88843421A	ACAN	NM_001369268.1(ACAN):c.824G>A:p.Arg275Gln	coding	Benign
15	88843521	C	G	C88843521G	ACAN	NM_001369268.1(ACAN):c.924C>G:p.Arg308=	coding	Benign
15	88845566	C	G	C88845566G	ACAN	NM_001369268.1(ACAN):c.1113C>G:p.Thr371=	coding	Benign
15	88845636	G	A	G88845636A	ACAN	NM_001369268.1(ACAN):c.1183G>A:p.Gly395Ser	coding	Benign
15	88845641	C	T	C88845641T	ACAN	NM_001369268.1(ACAN):c.1188C>T:p.Ser396=	coding	Benign
15	88845689	G	A	G88845689A	ACAN	NM_001369268.1(ACAN):c.1236G>A:p.Leu412=	coding	Benign
15	88845695	C	T	C88845695T	ACAN	NM_001369268.1(ACAN):c.1242C>T:p.Pro414=	coding	Benign
15	88845851	C	T	C88845851T	ACAN	NM_001369268.1(ACAN):c.1398C>T:p.Thr466=	coding	Benign
15	88847303	A	T	A88847303T	ACAN	NM_001369268.1(ACAN):c.1490A>T:p.Gln497Leu	coding	Benign
15	88847317	C	T	C88847317T	ACAN	NM_001369268.1(ACAN):c.1504C>T:p.Arg502Cys	coding	Benign
15	88847328	G	A	G88847328A	ACAN	NM_001369268.1(ACAN):c.1515G>A:p.Ala505=	coding	Benign
15	88847343	G	A	G88847343A	ACAN	NM_001369268.1(ACAN):c.1530G>A:p.Pro510=	coding	Benign
15	88848025	A	G	A88848025G	ACAN	NM_001369268.1(ACAN):c.1719A>G:p.Val573=	coding	Benign
15	88849514	T	C	T88849514C	ACAN	NM_001369268.1(ACAN):c.1809T>C:p.Ala603=	coding	Benign
15	88849544	C	T	C88849544T	ACAN	NM_001369268.1(ACAN):c.1839C>T:p.Ala613=	coding	Benign
15	88849555	G	A	G88849555A	ACAN	NM_001369268.1(ACAN):c.1850G>A:p.Arg617His	coding	Benign
15	88849571	C	T	C88849571T	ACAN	NM_001369268.1(ACAN):c.1866C>T:p.Cys622=	coding	Benign
15	88849673	C	T	C88849673T	ACAN	NM_001369268.1(ACAN):c.1968C>T:p.Tyr656=	coding	Benign
15	88849708	G	A	G88849708A	ACAN	NM_001369268.1(ACAN):c.2003G>A:p.Arg668Gln	coding	Benign
15	88849732	G	A	G88849732A	ACAN	NM_001369268.1(ACAN):c.2026+1G>A	coding	Pathogenic
15	88851804	G	A	G88851804A	ACAN	NM_001369268.1(ACAN):c.2037G>A:p.Ala679=	coding	Benign
15	88851889	G	A	G88851889A	ACAN	NM_001369268.1(ACAN):c.2122G>A:p.Gly708Ser	coding	Benign
15	88852014	G	A	G88852014A	ACAN	NM_001369268.1(ACAN):c.2247G>A:p.Val749=	coding	Benign
15	88855133	A	G	A88855133G	ACAN	NM_001369268.1(ACAN):c.2548A>G:p.Ser850Gly	coding	Benign
15	88855595	A	G	A88855595G	ACAN	NM_001369268.1(ACAN):c.3010A>G:p.Thr1004Ala	coding	Benign
15	88855936	C	T	C88855936T	ACAN	NM_001369268.1(ACAN):c.3351C>T:p.Thr1117=	coding	Benign
15	88856723	G	T	G88856723T	ACAN	NM_001369268.1(ACAN):c.4138G>T:p.Val1380Phe	coding	Pathogenic
15	88856932	C	T	C88856932T	ACAN	NM_001369268.1(ACAN):c.4347C>T:p.Ser1449=	coding	Benign
15	88857108	A	C	A88857108C	ACAN	NM_001369268.1(ACAN):c.4523A>C:p.Glu1508Ala	coding	Benign
15	88857242	G	T	G88857242T	ACAN	NM_001369268.1(ACAN):c.4657G>T:p.Glu1553Ter	coding	Pathogenic
15	88857646	T	A	T88857646A	ACAN	NM_001369268.1(ACAN):c.5061T>A:p.Ser1687Arg	coding	Pathogenic
15	88858594	T	C	T88858594C	ACAN	NM_001369268.1(ACAN):c.6009T>C:p.Tyr2003=	coding	Benign
15	88871449	C	T	C88871449T	ACAN	NM_001369268.1(ACAN):c.7128C>T:p.Arg2376=	coding	Benign
15	88871499	T	C	T88871499C	ACAN	NM_001369268.1(ACAN):c.7178T>C:p.Leu2393Pro	coding	Pathogenic
15	88871525	C	T	C88871525T	ACAN	NM_001369268.1(ACAN):c.7204C>T:p.Gln2402Ter	coding	Pathogenic
15	88872007	T	C	T88872007C	ACAN	NM_001369268.1(ACAN):c.7224T>C:p.Asn2408=	coding	Benign
15	88872038	G	A	G88872038A	ACAN	NM_001369268.1(ACAN):c.7255G>A:p.Asp2419Asn	coding	Pathogenic
15	88872895	G	A	G88872895A	ACAN	NM_001369268.1(ACAN):c.7317G>A:p.Trp2439Ter	coding	Pathogenic
15	88872925	C	T	C88872925T	ACAN	NM_001369268.1(ACAN):c.7347C>T:p.Ala2449=	coding	Benign
15	88872941	G	A	G88872941A	ACAN	NM_001369268.1(ACAN):c.7363G>A:p.Val2455Met	coding	Pathogenic
15	88873849	C	T	C88873849T	ACAN	NM_001369268.1(ACAN):c.7455C>T:p.Cys2485=	coding	Benign
15	88873918	C	T	C88873918T	ACAN	NM_001369268.1(ACAN):c.7524C>T:p.Ser2508=	coding	Benign
15	88899404	C	T	C88899404T	MFGE8	NM_005928.4(MFGE8):c.1155G>A:p.Leu385=	coding	Benign
15	88905779	C	T	C88905779T	MFGE8	NM_005928.4(MFGE8):c.663G>A:p.Glu221=	coding	Benign
15	88906723	C	T	C88906723T	MFGE8	NM_005928.4(MFGE8):c.443G>A:p.Arg148His	coding	Benign
15	88907237	A	G	A88907237G	MFGE8	NM_005928.4(MFGE8):c.345T>C:p.Asn115=	coding	Benign
15	88909783	C	G	C88909783G	MFGE8	NM_005928.4(MFGE8):c.205+9G>C	noncoding	Benign
15	88909829	C	T	C88909829T	MFGE8	NM_005928.4(MFGE8):c.168G>A:p.Thr56=	coding	Benign
15	88909921	T	C	T88909921C	MFGE8	NM_005928.4(MFGE8):c.76A>G:p.Ile26Val	coding	Benign
15	89188312	G	T	G89188312T	ABHD2	NM_152924.5(ABHD2):c.926+9G>T	noncoding	Benign
15	89191089	C	T	C89191089T	ABHD2	NM_152924.5(ABHD2):c.936C>T:p.His312=	coding	Benign
15	89195345	C	T	C89195345T	ABHD2	NM_152924.5(ABHD2):c.1200C>T:p.Tyr400=	coding	Benign
15	89195405	G	A	G89195405A	ABHD2	NM_152924.5(ABHD2):c.1260G>A:p.Val420=	coding	Benign
15	89209905	G	A	G89209905A	RLBP1	NM_000326.5(RLBP1):c.*380C>T	noncoding	Benign/Likely_benign
15	89209963	G	A	G89209963A	RLBP1	NM_000326.5(RLBP1):c.*322C>T	noncoding	Benign
15	89209989	C	T	C89209989T	RLBP1	NM_000326.5(RLBP1):c.*296G>A	noncoding	Benign
15	89210043	T	G	T89210043G	RLBP1	NM_000326.5(RLBP1):c.*242A>C	noncoding	Benign/Likely_benign
15	89210118	A	C	A89210118C	RLBP1	NM_000326.5(RLBP1):c.*167T>G	noncoding	Benign
15	89210422	G	A	G89210422A	RLBP1	NM_000326.5(RLBP1):c.817C>T:p.Leu273Phe	coding	Benign/Likely_benign
15	89210794	G	A	G89210794A	RLBP1	NM_000326.5(RLBP1):c.700C>T:p.Arg234Trp	coding	Pathogenic
15	89211723	G	A	G89211723A	RLBP1	NM_000326.5(RLBP1):c.684+20C>T	noncoding	Benign
15	89211750	A	T	A89211750T	RLBP1	NM_000326.5(RLBP1):c.677T>A:p.Met226Lys	coding	Pathogenic
15	89211898	A	G	A89211898G	RLBP1	NM_000326.5(RLBP1):c.529T>C:p.Leu177=	coding	Benign/Likely_benign
15	89215133	C	T	C89215133T	RLBP1	NM_000326.5(RLBP1):c.452G>A:p.Arg151Gln	coding	Pathogenic
15	89215139	G	A	G89215139A	RLBP1	NM_000326.5(RLBP1):c.446C>T:p.Ser149Phe	coding	Pathogenic
15	89215222	C	T	C89215222T	RLBP1	NM_000326.5(RLBP1):c.363G>A:p.Arg121=	coding	Benign
15	89217133	A	C	A89217133C	RLBP1	NM_000326.5(RLBP1):c.333T>G:p.Tyr111Ter	coding	Pathogenic
15	89217276	G	A	G89217276A	RLBP1	NM_000326.5(RLBP1):c.190C>T:p.Arg64Ter	coding	Pathogenic/Likely_pathogenic
15	89218563	A	G	A89218563G	RLBP1	NM_000326.5(RLBP1):c.141+2T>C	noncoding	Pathogenic/Likely_pathogenic
15	89219045	C	T	C89219045T	RLBP1	NM_000326.5(RLBP1):c.-70G>A	noncoding	Benign/Likely_benign
15	89247649	T	C	T89247649C	FANCI	NM_001113378.2(FANCI):c.2T>C:p.Met1Thr	coding	Pathogenic
15	89258854	G	A	G89258854A	FANCI	NM_001113378.2(FANCI):c.157+78G>A	noncoding	Pathogenic
15	89260719	C	T	C89260719T	FANCI	NM_001113378.1(FANCI):c.164C>T:p.Pro55Leu	coding	Benign
15	89260812	C	T	C89260812T	FANCI	NM_001113378.1(FANCI):c.257C>T:p.Ala86Val	coding	Benign
15	89260841	G	A	G89260841A	FANCI	NM_001113378.1(FANCI):c.286G>A:p.Glu96Lys	coding	Benign
15	89260880	G	A	G89260880A	FANCI	NM_001113378.1(FANCI):c.288+37G>A	noncoding	Benign
15	89263422	G	A	G89263422A	FANCI	NM_001113378.1(FANCI):c.507G>A:p.Trp169Ter	coding	Pathogenic
15	89263479	C	T	C89263479T	FANCI	NM_001113378.1(FANCI):c.545+19C>T	noncoding	Benign
15	89263490	G	A	G89263490A	FANCI	NM_001113378.1(FANCI):c.545+30G>A	noncoding	Benign
15	89268509	T	C	T89268509C	FANCI	NM_001113378.2(FANCI):c.866T>C:p.Leu289Pro	coding	Pathogenic
15	89268511	G	A	G89268511A	FANCI	NM_001113378.1(FANCI):c.868G>A:p.Val290Met	coding	Benign
15	89276712	G	A	G89276712A	FANCI	NM_001113378.1(FANCI):c.1114G>A:p.Val372Ile	coding	Benign
15	89276777	T	C	T89276777C	FANCI	NM_001113378.1(FANCI):c.1179T>C:p.Tyr393=	coding	Benign
15	89276809	T	C	T89276809C	FANCI	NM_001113378.1(FANCI):c.1211T>C:p.Ile404Thr	coding	Benign/Likely_benign
15	89276861	C	T	C89276861T	FANCI	NM_001113378.2(FANCI):c.1263C>T:p.Leu421=	coding	Benign
15	89276862	G	C	G89276862C	FANCI	NM_001113378.2(FANCI):c.1264G>C:p.Gly422Arg	coding	Pathogenic
15	89278679	C	T	C89278679T	FANCI	NM_001113378.1(FANCI):c.1294-8C>T	noncoding	Benign
15	89278719	G	A	G89278719A	FANCI	NM_001113378.1(FANCI):c.1326G>A:p.Glu442=	coding	Benign/Likely_benign
15	89281249	T	A	T89281249A	FANCI	NM_001113378.1(FANCI):c.1461T>A:p.Tyr487Ter	coding	Pathogenic
15	89283149	C	T	C89283149T	FANCI	NM_001113378.2(FANCI):c.1597C>T:p.Arg533Ter	coding	Pathogenic
15	89283265	C	T	C89283265T	FANCI	NM_001113378.1(FANCI):c.1698+15C>T	noncoding	Benign
15	89285089	C	A	C89285089A	FANCI	NM_001113378.1(FANCI):c.1699-7C>A	noncoding	Benign
15	89285210	C	T	C89285210T	FANCI	NM_001113378.1(FANCI):c.1813C>T:p.Leu605Phe	coding	Benign/Likely_benign
15	89290231	C	T	C89290231T	FANCI	NM_001113378.2(FANCI):c.1840C>T:p.Arg614Ter	coding	Pathogenic
15	89291615	A	C	A89291615C	FANCI	NM_001113378.1(FANCI):c.1893A>C:p.Leu631Phe	coding	Benign/Likely_benign
15	89292706	A	G	A89292706G	FANCI	NM_001113378.1(FANCI):c.2011A>G:p.Ile671Val	coding	Benign/Likely_benign
15	89292723	C	T	C89292723T	FANCI	NM_001113378.1(FANCI):c.2028C>T:p.Ala676=	coding	Benign
15	89292751	C	A	C89292751A	FANCI	NM_001113378.1(FANCI):c.2056C>A:p.Gln686Lys	coding	Benign
15	89292997	G	C	G89292997C	FANCI	NM_001113378.1(FANCI):c.2225G>C:p.Cys742Ser	coding	Benign
15	89293020	T	C	T89293020C	FANCI	NM_001113378.2(FANCI):c.2248T>C:p.Cys750Arg	coding	Pathogenic
15	89293908	G	T	G89293908T	FANCI	NM_001113378.1(FANCI):c.2367G>T:p.Ala789=	coding	Benign
15	89293963	A	T	A89293963T	FANCI	NM_001113378.1(FANCI):c.2422A>T:p.Lys808Ter	coding	Pathogenic/Likely_pathogenic
15	89295005	A	G	A89295005G	FANCI	NM_001113378.1(FANCI):c.2547A>G:p.Lys849=	coding	Benign
15	89295030	C	T	C89295030T	FANCI	NM_001113378.2(FANCI):c.2572C>T:p.His858Tyr	coding	Pathogenic
15	89295062	A	C	A89295062C	FANCI	NM_001113378.1(FANCI):c.2604A>C:p.Glu868Asp	coding	Benign/Likely_benign
15	89295087	A	T	A89295087T	FANCI	NM_001113378.1(FANCI):c.2629A>T:p.Ile877Leu	coding	Benign
15	89300313	G	T	G89300313T	FANCI	NM_001113378.1(FANCI):c.2817G>T:p.Lys939Asn	coding	Benign
15	89300328	A	C	A89300328C	FANCI	NM_001113378.1(FANCI):c.2832A>C:p.Arg944Ser	coding	Benign/Likely_benign
15	89300379	A	G	A89300379G	FANCI	NM_001113378.1(FANCI):c.2883A>G:p.Gln961=	coding	Benign
15	89301433	C	T	C89301433T	FANCI	NM_001113378.1(FANCI):c.2997C>T:p.Ser999=	coding	Benign/Likely_benign
15	89301445	A	G	A89301445G	FANCI	NM_001113378.2(FANCI):c.3006+3A>G	noncoding	Pathogenic
15	89301457	A	C	A89301457C	FANCI	NM_001113378.1(FANCI):c.3006+15A>C	noncoding	Benign
15	89303916	G	A	G89303916A	FANCI	NM_001113378.2(FANCI):c.3058+1G>A	coding	Pathogenic
15	89303919	A	G	A89303919G	FANCI	NM_001113378.2(FANCI):c.3058+4A>G	noncoding	Pathogenic
15	89305159	C	T	C89305159T	FANCI	NM_001113378.1(FANCI):c.3103C>T:p.Leu1035=	coding	Benign/Likely_benign
15	89305919	A	G	A89305919G	FANCI	NM_001113378.2(FANCI):c.3350-88A>G	noncoding	Pathogenic
15	89306178	C	T	C89306178T	FANCI	NM_001113378.2(FANCI):c.3521C>T:p.Thr1174Ile	coding	Pathogenic
15	89306182	C	A	C89306182A	FANCI	NM_001113378.1(FANCI):c.3525C>A:p.Ala1175=	coding	Benign
15	89307605	T	C	T89307605C	FANCI	NM_001113378.1(FANCI):c.3592-8T>C	noncoding	Benign/Likely_benign
15	89307691	G	A	G89307691A	FANCI	NM_001113378.1(FANCI):c.3651+19G>A	noncoding	Benign
15	89314671	T	A	T89314671A	FANCI	NM_001113378.1(FANCI):c.3780T>A:p.Tyr1260Ter	coding	Pathogenic
15	89314722	A	T	A89314722T	POLG;FANCI	NM_001113378.1(FANCI):c.3816+15A>T	noncoding	Benign/Likely_benign
15	89315311	C	T	C89315311T	FANCI	NM_001113378.1(FANCI):c.3846C>T:p.Ser1282=	coding	Benign
15	89315318	C	T	C89315318T	FANCI	NM_018193.3(FANCI):c.3673C>T:p.Arg1225Ter	coding	Pathogenic
15	89315319	G	A	G89315319A	FANCI	NM_018193.3(FANCI):c.3674G>A:p.Arg1225Gln	coding	Pathogenic
15	89315330	A	G	A89315330G	FANCI	NM_001113378.1(FANCI):c.3865A>G:p.Ile1289Val	coding	Benign
15	89315360	C	T	C89315360T	FANCI	NM_001113378.2(FANCI):c.3895C>T:p.Arg1299Ter	coding	Pathogenic
15	89315371	T	C	T89315371C	POLG;FANCI	NM_001113378.1(FANCI):c.3906T>C:p.Gly1302=	coding	Benign/Likely_benign
15	89316763	C	A	C89316763A	POLG;FANCI	NM_002693.2(POLG):c.3708G>T:p.Gln1236His	coding	Benign/Likely_benign
15	89316836	T	C	T89316836C	POLG;FANCI	NM_002693.2(POLG):c.3644-9A>G	coding	Benign/Likely_benign
15	89316841	C	G	C89316841G	POLG	NM_002693.2(POLG):c.3644-14G>C	coding	Benign
15	89317118	T	C	T89317118C	POLG;FANCI	NM_002693.2(POLG):c.3643+258A>G	coding	Benign/Likely_benign
15	89317119	A	C	A89317119C	POLG;FANCI	NM_002693.2(POLG):c.3643+257T>G	coding	Benign
15	89317150	G	C	G89317150C	POLG	NM_002693.2(POLG):c.3643+226C>G	noncoding	Benign
15	89317196	C	T	C89317196T	POLG	NM_002693.2(POLG):c.3643+180G>A	noncoding	Benign/Likely_benign
15	89317328	T	C	T89317328C	POLG	NM_002693.2(POLG):c.3643+48A>G	noncoding	Benign/Likely_benign
15	89317374	A	G	A89317374G	POLG	NM_002693.2(POLG):c.3643+2T>C	noncoding	Pathogenic
15	89317389	G	T	G89317389T	POLG	NM_002693.2(POLG):c.3630C>A:p.Tyr1210Ter	coding	Pathogenic
15	89317422	G	T	G89317422T	POLG	NM_002693.2(POLG):c.3597C>A:p.Thr1199=	coding	Benign/Likely_benign
15	89317446	C	A	C89317446A	POLG	NM_002693.2(POLG):c.3573G>T:p.Lys1191Asn	coding	Pathogenic/Likely_pathogenic
15	89317447	T	C	T89317447C	POLG	NM_002693.2(POLG):c.3572A>G:p.Lys1191Arg	coding	Pathogenic
15	89317458	C	G	C89317458G	POLG	NM_002693.2(POLG):c.3561G>C:p.Arg1187=	coding	Benign/Likely_benign
15	89317469	C	T	C89317469T	POLG	NM_002693.2(POLG):c.3550G>A:p.Asp1184Asn	coding	Pathogenic
15	89317496	G	A	G89317496A	POLG	NM_002693.2(POLG):c.3523C>T:p.Gln1175Ter	coding	Pathogenic
15	89317531	A	C	A89317531C	POLG	NM_002693.2(POLG):c.3488T>G:p.Met1163Arg	coding	Pathogenic
15	89317538	T	C	T89317538C	POLG	NM_002693.2(POLG):c.3483-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	89317550	A	G	A89317550G	POLG	NM_002693.2(POLG):c.3483-14T>C	noncoding	Benign
15	89317555	A	C	A89317555C	POLG	NM_002693.2(POLG):c.3483-19T>G	noncoding	Benign
15	89317577	T	G	T89317577G	POLG	NM_002693.2(POLG):c.3483-41A>C	noncoding	Benign
15	89317700	T	G	T89317700G	POLG	NM_002693.2(POLG):c.3483-164A>C	noncoding	Benign
15	89318497	C	T	C89318497T	POLG	NM_002693.2(POLG):c.3482+44G>A	noncoding	Benign/Likely_benign
15	89318572	G	A	G89318572A	POLG	NM_002693.2(POLG):c.3451C>T:p.Leu1151=	coding	Benign/Likely_benign
15	89318595	T	C	T89318595C	POLG;FANCI	NM_002693.3(POLG):c.3428A>G:p.Glu1143Gly	coding	Benign/Likely_benign
15	89318618	G	A	G89318618A	POLG	NM_002693.2(POLG):c.3405C>T:p.Asp1135=	coding	Benign/Likely_benign
15	89318710	C	G	C89318710G	POLG	NM_002693.2(POLG):c.3313G>C:p.Ala1105Pro	coding	Pathogenic
15	89318729	A	G	A89318729G	POLG	NM_002693.2(POLG):c.3294T>C:p.Asn1098=	coding	Benign/Likely_benign
15	89318736	C	A	C89318736A	POLG	NM_002693.2(POLG):c.3287G>T:p.Arg1096Leu	coding	Pathogenic
15	89318737	G	A	G89318737A	POLG	NM_002693.3(POLG):c.3286C>T	coding	Pathogenic/Likely_pathogenic
15	89318738	G	C	G89318738C	POLG	NM_002693.2(POLG):c.3285C>G:p.Ser1095Arg	coding	Pathogenic/Likely_pathogenic
15	89318768	C	T	C89318768T	POLG	NM_002693.2(POLG):c.3274-19G>A	noncoding	Benign/Likely_benign
15	89318963	G	A	G89318963A	POLG	NM_002693.2(POLG):c.3241C>T:p.Arg1081Ter	coding	Pathogenic
15	89318986	G	A	G89318986A	POLG	NM_001126131.2(POLG):c.3218C>T:p.Pro1073Leu	coding	Pathogenic
15	89319110	A	G	A89319110G	POLG;FANCI	NM_002693.2(POLG):c.3105-11T>C	noncoding	Benign/Likely_benign
15	89319135	T	C	T89319135C	POLG	NM_002693.2(POLG):c.3105-36A>G	noncoding	Benign
15	89319225	T	A	T89319225A	POLG	NM_002693.2(POLG):c.3104+3A>T	noncoding	Pathogenic
15	89319227	C	T	C89319227T	POLG	NM_002693.2(POLG):c.3104+1G>A	noncoding	Pathogenic
15	89319265	G	A	G89319265A	POLG	NM_002693.2(POLG):c.3067C>T:p.Gln1023Ter	coding	Pathogenic
15	89319275	C	T	C89319275T	POLG	NM_002693.2(POLG):c.3057G>A:p.Trp1019Ter	coding	Pathogenic
15	89319338	C	G	C89319338G	POLG	NM_002693.2(POLG):c.2994G>C:p.Ser998=	coding	Benign/Likely_benign
15	89319351	C	G	C89319351G	POLG	NM_002693.2(POLG):c.2982-1G>C	coding	Pathogenic
15	89319380	C	T	C89319380T	POLG	NM_002693.2(POLG):c.2982-30G>A	noncoding	Benign
15	89319681	C	A	C89319681A	POLG	NM_002693.2(POLG):c.2982-331G>T	noncoding	Benign
15	89319682	A	C	A89319682C	POLG	NM_002693.2(POLG):c.2982-332T>G	noncoding	Benign
15	89320483	T	G	T89320483G	POLG	NM_002693.2(POLG):c.2981+283A>C	noncoding	Benign
15	89320560	G	T	G89320560T	POLG	NM_002693.2(POLG):c.2981+206C>A	noncoding	Benign
15	89320789	G	A	G89320789A	POLG;FANCI	NM_002693.2(POLG):c.2958C>T:p.Tyr986=	coding	Benign/Likely_benign
15	89320850	A	C	A89320850C	POLG	NM_002693.2(POLG):c.2897T>G:p.Leu966Arg	coding	Pathogenic
15	89320877	G	A	G89320877A	POLG	NM_002693.2(POLG):c.2870C>T:p.Ala957Val	coding	Pathogenic/Likely_pathogenic
15	89320878	C	A	C89320878A	POLG	NM_002693.2(POLG):c.2869G>T:p.Ala957Ser	coding	Pathogenic
15	89320883	T	C	T89320883C	POLG	NM_002693.2(POLG):c.2864A>G:p.Tyr955Cys	coding	Pathogenic
15	89320896	A	T	A89320896T	POLG	NM_002693.2(POLG):c.2851T>A:p.Tyr951Asn	coding	Pathogenic
15	89320907	T	C	T89320907C	POLG	NM_002693.2(POLG):c.2840A>G:p.Lys947Arg	coding	Pathogenic
15	89320919	C	T	C89320919T	POLG	NM_002693.2(POLG):c.2828G>A:p.Arg943His	coding	Pathogenic
15	89320920	G	A	G89320920A	POLG	NM_002693.2(POLG):c.2827C>T:p.Arg943Cys	coding	Pathogenic
15	89320953	G	A	G89320953A	POLG	NM_002693.2(POLG):c.2794C>T:p.His932Tyr	coding	Pathogenic
15	89321007	T	G	T89321007G	POLG	NM_002693.2(POLG):c.2740A>C:p.Thr914Pro	coding	Pathogenic
15	89321027	G	A	G89321027A	POLG	NM_002693.2(POLG):c.2735-15C>T	noncoding	Benign
15	89321190	T	G	T89321190G	POLG	NM_002693.2(POLG):c.2669A>C:p.Asp890Ala	coding	Pathogenic
15	89321197	C	T	C89321197T	POLG	NM_002693.2(POLG):c.2662G>A:p.Gly888Ser	coding	Pathogenic
15	89321242	C	A	C89321242A	POLG	NM_002693.2(POLG):c.2617G>T:p.Glu873Ter	coding	Pathogenic
15	89321254	G	A	G89321254A	POLG	NM_002693.2(POLG):c.2605C>T:p.Arg869Ter	coding	Pathogenic/Likely_pathogenic
15	89321274	G	A	G89321274A	POLG	NM_002693.2(POLG):c.2599-14C>T	noncoding	Benign
15	89321743	T	C	T89321743C	POLG	NM_002693.2(POLG):c.2591A>G:p.Asn864Ser	coding	Pathogenic
15	89321770	A	G	A89321770G	POLG	NM_002693.2(POLG):c.2564T>C:p.Val855Ala	coding	Pathogenic
15	89321771	C	A	C89321771A	POLG	NM_002693.2(POLG):c.2563G>T:p.Val855Leu	coding	Pathogenic/Likely_pathogenic
15	89321776	C	T	C89321776T	POLG	NM_002693.2(POLG):c.2558G>A:p.Arg853Gln	coding	Pathogenic/Likely_pathogenic
15	89321783	T	C	T89321783C	POLG	NM_002693.2(POLG):c.2551A>G:p.Thr851Ala	coding	Pathogenic
15	89321792	C	T	C89321792T	POLG	NM_001126131.2(POLG):c.2542G>A:p.Gly848Ser	coding	Pathogenic
15	89321859	G	A	G89321859A	POLG	NM_002693.2(POLG):c.2481-6C>T	noncoding	Benign/Likely_benign
15	89321945	C	T	C89321945T	POLG	NM_002693.2(POLG):c.2480+17G>A	noncoding	Benign
15	89321961	C	T	C89321961T	POLG	NM_002693.2(POLG):c.2480+1G>A	noncoding	Pathogenic
15	89322027	G	C	G89322027C	POLG	NM_002693.2(POLG):c.2427-12C>G	noncoding	Benign
15	89322255	G	A	G89322255A	POLG	NM_002693.2(POLG):c.2427-240C>T	noncoding	Benign
15	89322461	T	C	T89322461C	POLG	NM_002693.2(POLG):c.2426+281A>G	noncoding	Benign
15	89322715	C	T	C89322715T	POLG	NM_002693.2(POLG):c.2426+27G>A	noncoding	Benign
15	89322741	C	G	C89322741G	POLG	NM_002693.2(POLG):c.2426+1G>C	noncoding	Pathogenic
15	89322748	C	T	C89322748T	POLG	NM_002693.2(POLG):c.2420G>A:p.Arg807His	coding	Pathogenic
15	89322921	G	A	G89322921A	POLG	NM_002693.2(POLG):c.2266-19C>T	noncoding	Benign
15	89323055	G	A	G89323055A	POLG	NM_002693.2(POLG):c.2266-153C>T	noncoding	Benign
15	89323129	T	C	T89323129C	POLG	NM_002693.2(POLG):c.2266-227A>G	noncoding	Benign
15	89323168	C	T	C89323168T	POLG	NM_002693.2(POLG):c.2265+236G>A	noncoding	Benign
15	89323415	G	A	G89323415A	POLG	NM_002693.2(POLG):c.2254C>T:p.Leu752=	coding	Benign/Likely_benign
15	89323460	C	G	C89323460G	POLG	NM_002693.3(POLG):c.2209G>C:p.Gly737Arg	coding	Pathogenic/Likely_pathogenic
15	89323829	G	A	G89323829A	POLG	NM_002693.2(POLG):c.2143C>T:p.Gln715Ter	coding	Pathogenic
15	89323847	G	A	G89323847A	POLG	NM_002693.2(POLG):c.2125C>T:p.Arg709Ter	coding	Pathogenic
15	89323863	G	T	G89323863T	POLG	NM_002693.2(POLG):c.2109C>A:p.Ala703=	coding	Benign/Likely_benign
15	89323923	A	G	A89323923G	POLG	NM_002693.2(POLG):c.2071-22T>C	noncoding	Benign
15	89324106	C	T	C89324106T	POLG	NM_002693.2(POLG):c.2070+1G>A	noncoding	Pathogenic
15	89324193	C	T	C89324193T	POLG	NM_002693.2(POLG):c.1984G>A:p.Glu662Lys	coding	Benign
15	89324236	A	G	A89324236G	POLG	NM_002693.2(POLG):c.1950-9T>C	noncoding	Benign/Likely_benign
15	89324248	G	A	G89324248A	POLG	NM_002693.2(POLG):c.1950-21C>T	noncoding	Benign
15	89324270	T	C	T89324270C	POLG	NM_002693.2(POLG):c.1950-43A>G	noncoding	Benign
15	89325430	C	G	C89325430G	POLG	NM_002693.2(POLG):c.1949+20G>C	noncoding	Benign/Likely_benign
15	89325452	G	T	G89325452T	POLG	NM_002693.3(POLG):c.1947C>A:p.Tyr649Ter	coding	Pathogenic
15	89325456	G	C	G89325456C	POLG	NM_002693.2(POLG):c.1943C>G:p.Pro648Arg	coding	Pathogenic/Likely_pathogenic
15	89325509	G	A	G89325509A	POLG	NM_002693.2(POLG):c.1890C>T:p.Asn630=	coding	Benign/Likely_benign
15	89325519	C	T	C89325519T	POLG	NM_002693.2(POLG):c.1880G>A:p.Arg627Gln	coding	Pathogenic/Likely_pathogenic
15	89325520	G	A	G89325520A	POLG	NM_002693.2(POLG):c.1879C>T:p.Arg627Trp	coding	Pathogenic
15	89325525	G	A	G89325525A	POLG	NM_002693.2(POLG):c.1874C>T:p.Pro625Leu	coding	Pathogenic/Likely_pathogenic
15	89325591	A	G	A89325591G	POLG	NM_002693.2(POLG):c.1808T>C:p.Met603Thr	coding	Pathogenic
15	89325610	G	A	G89325610A	POLG	NM_002693.2(POLG):c.1789C>T:p.Arg597Trp	coding	Pathogenic/Likely_pathogenic
15	89325678	C	T	C89325678T	POLG	NM_002693.2(POLG):c.1721G>A:p.Arg574Gln	coding	Pathogenic/Likely_pathogenic
15	89325683	C	T	C89325683T	POLG	NM_002693.2(POLG):c.1716G>A:p.Trp572Ter	coding	Pathogenic
15	89325691	G	A	G89325691A	POLG	NM_002693.2(POLG):c.1713-5C>T	noncoding	Benign/Likely_benign
15	89325717	C	T	C89325717T	POLG	NM_002693.2(POLG):c.1713-31G>A	noncoding	Benign
15	89325718	G	A	G89325718A	POLG	NM_002693.2(POLG):c.1713-32C>T	noncoding	Benign
15	89326435	G	A	G89326435A	POLG	NM_002693.2(POLG):c.1712+177C>T	noncoding	Benign
15	89326502	A	G	A89326502G	POLG	NM_002693.2(POLG):c.1712+110T>C	noncoding	Benign
15	89326602	C	T	C89326602T	POLG	NM_002693.2(POLG):c.1712+10G>A	noncoding	Benign/Likely_benign
15	89326650	G	C	G89326650C	POLG	NM_002693.2(POLG):c.1674C>G:p.Leu558=	coding	Benign/Likely_benign
15	89326688	G	A	G89326688A	POLG	NM_002693.2(POLG):c.1636C>T:p.Arg546Cys	coding	Benign/Likely_benign
15	89326965	C	T	C89326965T	POLG	NM_002693.2(POLG):c.1532G>A:p.Ser511Asn	coding	Pathogenic
15	89326982	C	T	C89326982T	POLG	NM_002693.2(POLG):c.1515G>A:p.Lys505=	coding	Benign
15	89327166	C	T	C89327166T	POLG	NM_002693.2(POLG):c.1433+1G>A	noncoding	Pathogenic
15	89327201	C	T	C89327201T	POLG	NM_002693.3(POLG):c.1399G>A:p.Ala467Thr	coding	Pathogenic
15	89327255	G	A	G89327255A	POLG	NM_002693.2(POLG):c.1345C>T:p.Gln449Ter	coding	Pathogenic
15	89327311	A	G	A89327311G	POLG	NM_002693.2(POLG):c.1289T>C:p.Met430Thr	coding	Pathogenic
15	89327351	T	C	T89327351C	POLG	NM_002693.3(POLG):c.1251-2A>G	noncoding	Pathogenic
15	89327392	G	A	G89327392A	POLG	NM_002693.2(POLG):c.1251-43C>T	noncoding	Benign/Likely_benign
15	89328268	T	C	T89328268C	POLG	NM_002693.2(POLG):c.1250+188A>G	noncoding	Benign
15	89328729	G	A	G89328729A	POLG	NM_002693.2(POLG):c.1126C>T:p.Leu376=	coding	Benign/Likely_benign
15	89328735	G	A	G89328735A	POLG	NM_002693.2(POLG):c.1120C>T:p.Arg374Ter	coding	Pathogenic
15	89328832	C	G	C89328832G	POLG	NM_002693.2(POLG):c.1024-1G>C	coding	Pathogenic
15	89328869	G	A	G89328869A	POLG	NM_002693.2(POLG):c.1024-38C>T	noncoding	Benign
15	89328930	A	C	A89328930C	POLG	NM_002693.2(POLG):c.1023+13T>G	noncoding	Benign
15	89329018	C	T	C89329018T	POLG	NM_002693.3(POLG):c.948G>A:p.Lys316=	coding	Benign/Likely_benign
15	89329040	C	T	C89329040T	POLG	NM_002693.2(POLG):c.926G>A:p.Arg309His	coding	Pathogenic/Likely_pathogenic
15	89329041	G	A	G89329041A	POLG	NM_002693.2(POLG):c.925C>T:p.Arg309Cys	coding	Pathogenic
15	89329051	G	C	G89329051C	POLG	NM_002693.2(POLG):c.915C>G:p.Ser305Arg	coding	Pathogenic/Likely_pathogenic
15	89329055	A	C	A89329055C	POLG	NM_001126131.2(POLG):c.911T>G:p.Leu304Arg	coding	Pathogenic/Likely_pathogenic
15	89329121	G	A	G89329121A	POLG	NM_002693.2(POLG):c.856-11C>T	noncoding	Benign
15	89330084	G	A	G89330084A	POLG	NM_002693.2(POLG):c.852C>T:p.Ile284=	coding	Benign/Likely_benign
15	89330113	G	A	G89330113A	POLG	NM_002693.2(POLG):c.823C>T:p.Arg275Ter	coding	Pathogenic
15	89330231	C	T	C89330231T	POLG	NM_002693.2(POLG):c.705G>A:p.Trp235Ter	coding	Pathogenic
15	89330241	C	T	C89330241T	POLG	NM_002693.2(POLG):c.695G>A:p.Arg232His	coding	Pathogenic
15	89330242	G	A	G89330242A	POLG	NM_002693.2(POLG):c.694C>T:p.Arg232Cys	coding	Pathogenic
15	89330257	G	A	G89330257A	POLG	NM_002693.2(POLG):c.679C>T:p.Arg227Trp	coding	Pathogenic
15	89330276	C	T	C89330276T	POLG	NM_002693.2(POLG):c.660G>A:p.Trp220Ter	coding	Pathogenic
15	89330287	T	C	T89330287C	POLG	NM_002693.2(POLG):c.660-11A>G	noncoding	Benign
15	89330322	C	T	C89330322T	POLG	NM_002693.2(POLG):c.660-46G>A	noncoding	Benign
15	89330566	A	G	A89330566G	POLG	NM_002693.2(POLG):c.660-290T>C	noncoding	Benign
15	89332812	C	G	C89332812G	POLG	NM_002693.2(POLG):c.659+284G>C	noncoding	Benign
15	89333085	C	A	C89333085A	POLG	NM_002693.2(POLG):c.659+11G>T	noncoding	Benign
15	89333346	G	A	G89333346A	POLG	NM_002693.2(POLG):c.409C>T:p.Gln137Ter	coding	Pathogenic/Likely_pathogenic
15	89333553	G	A	G89333553A	POLG	NM_002693.2(POLG):c.202C>T:p.Gln68Ter	coding	Pathogenic
15	89333583	G	A	G89333583A	POLG	NM_002693.3(POLG):c.172C>T:p.Gln58Ter	coding	Pathogenic
15	89333593	C	T	C89333593T	POLG	NM_002693.2(POLG):c.162G>A:p.Gln54=	coding	Benign
15	89333595	G	A	G89333595A	POLG	NM_002693.2(POLG):c.160C>T:p.Gln54Ter	coding	Pathogenic
15	89333596	T	C	T89333596C	POLG	NM_002693.2(POLG):c.159A>G:p.Gln53=	coding	Benign/Likely_benign
15	89333599	C	T	C89333599T	POLG	NM_002693.2(POLG):c.156G>A:p.Gln52=	coding	Benign
15	89333602	C	T	C89333602T	POLG	NM_002693.2(POLG):c.153G>A:p.Gln51=	coding	Benign
15	89333605	C	T	C89333605T	POLG	NM_002693.2(POLG):c.150G>A:p.Gln50=	coding	Benign/Likely_benign
15	89333627	T	C	T89333627C	POLG	NM_002693.2(POLG):c.128A>G:p.Gln43Arg	coding	Benign
15	89333680	C	T	C89333680T	POLG	NM_002693.2(POLG):c.75G>A:p.Trp25Ter	coding	Pathogenic
15	89333703	G	A	G89333703A	POLG	NM_002693.2(POLG):c.52C>T:p.Pro18Ser	coding	Benign
15	89333747	C	G	C89333747G	POLG	NM_002693.2(POLG):c.8G>C:p.Arg3Pro	coding	Pathogenic
15	89335160	T	C	T89335160C	POLG	NM_002693.2(POLG):c.-647A>G	noncoding	Benign
15	89582933	G	A	G89582933A	TICRR	NM_152259.4(TICRR):c.902G>A:p.Arg301Gln	coding	Benign
15	89608848	C	G	C89608848G	TICRR	NM_152259.4(TICRR):c.2768C>G:p.Ser923Cys	coding	Benign
15	89623908	G	A	G89623908A	TICRR	NM_152259.4(TICRR):c.3598G>A:p.Gly1200Ser	coding	Benign
15	89624672	T	C	T89624672C	TICRR	NM_152259.4(TICRR):c.4362T>C:p.Pro1454=	coding	Benign
15	89625443	G	C	G89625443C	TICRR	NM_152259.4(TICRR):c.5133G>C:p.Gly1711=	coding	Benign
15	89628075	A	G	A89628075G	KIF7	NM_198525.3(KIF7):c.*344T>C	noncoding	Benign
15	89628280	G	A	G89628280A	KIF7	NM_198525.3(KIF7):c.*139C>T	noncoding	Benign
15	89628452	C	G	C89628452G	KIF7	NM_198525.3(KIF7):c.3999G>C:p.Pro1333=	coding	Benign
15	89628804	G	A	G89628804A	KIF7	NM_198525.3(KIF7):c.3665-18C>T	noncoding	Benign
15	89629369	G	A	G89629369A	KIF7	NM_198525.3(KIF7):c.3517+6C>T	noncoding	Benign
15	89629547	G	C	G89629547C	KIF7	NM_198525.3(KIF7):c.3345C>G:p.His1115Gln	coding	Benign/Likely_benign
15	89629561	G	A	G89629561A	KIF7	NM_198525.3(KIF7):c.3331C>T:p.Arg1111Ter	coding	Pathogenic
15	89629603	T	G	T89629603G	KIF7	NM_198525.3(KIF7):c.3319-30A>C	noncoding	Benign
15	89630324	G	C	G89630324C	KIF7	NM_198525.3(KIF7):c.3281C>G:p.Ser1094Ter	coding	Pathogenic
15	89630353	G	A	G89630353A	KIF7	NM_198525.3(KIF7):c.3252C>T:p.Leu1084=	coding	Benign/Likely_benign
15	89630426	T	C	T89630426C	KIF7	NM_198525.3(KIF7):c.3179A>G:p.Asn1060Ser	coding	Pathogenic
15	89631486	G	T	G89631486T	KIF7	NM_198525.3(KIF7):c.3111+9C>A	noncoding	Benign/Likely_benign
15	89631558	C	T	C89631558T	KIF7	NM_198525.3(KIF7):c.3048G>A:p.Ser1016=	coding	Benign
15	89631593	C	T	C89631593T	KIF7	NM_198525.3(KIF7):c.3013G>A:p.Gly1005Arg	coding	Benign
15	89631594	G	A	G89631594A	KIF7	NM_198525.3(KIF7):c.3012C>T:p.Arg1004=	coding	Benign
15	89631605	G	A	G89631605A	KIF7	NM_198525.3(KIF7):c.3001C>T:p.Gln1001Ter	coding	Pathogenic
15	89631662	C	A	C89631662A	KIF7	NM_198525.3(KIF7):c.2944G>T:p.Glu982Ter	coding	Pathogenic
15	89631689	G	A	G89631689A	KIF7	NM_198525.3(KIF7):c.2917C>T:p.Arg973Ter	coding	Pathogenic
15	89631724	C	T	C89631724T	KIF7	NM_198525.3(KIF7):c.2896-14G>A	noncoding	Benign
15	89632842	C	A	C89632842A	KIF7	NM_198525.3(KIF7):c.2873G>T:p.Ser958Ile	coding	Benign
15	89633201	T	G	T89633201G	KIF7	NM_198525.3(KIF7):c.2658A>C:p.Ala886=	coding	Benign
15	89633269	G	C	G89633269C	KIF7	NM_198525.3(KIF7):c.2593-3C>G	noncoding	Pathogenic
15	89633675	G	T	G89633675T	KIF7	NM_198525.3(KIF7):c.2592+11C>A	noncoding	Benign
15	89633769	G	A	G89633769A	KIF7	NM_198525.3(KIF7):c.2509C>T:p.Gln837Ter	coding	Pathogenic
15	89633797	G	A	G89633797A	KIF7	NM_198525.3(KIF7):c.2481C>T:p.Asn827=	coding	Benign
15	89633926	C	T	C89633926T	KIF7	NM_198525.3(KIF7):c.2395-43G>A	noncoding	Benign
15	89642040	G	A	G89642040A	KIF7	NM_198525.3(KIF7):c.2394+163C>T	noncoding	Benign
15	89642262	C	G	C89642262G	KIF7	NM_198525.3(KIF7):c.2335G>C:p.Glu779Gln	coding	Benign/Likely_benign
15	89642326	G	A	G89642326A	KIF7	NM_198525.3(KIF7):c.2271C>T:p.Ala757=	coding	Benign
15	89645040	C	A	C89645040A	KIF7	NM_198525.3(KIF7):c.2164G>T:p.Glu722Ter	coding	Pathogenic
15	89645161	A	T	A89645161T	KIF7	NM_198525.3(KIF7):c.2043T>A:p.Val681=	coding	Benign/Likely_benign
15	89645920	G	A	G89645920A	KIF7	NM_198525.3(KIF7):c.1895C>T:p.Pro632Leu	coding	Benign/Likely_benign
15	89645930	C	T	C89645930T	KIF7	NM_198525.3(KIF7):c.1885G>A:p.Glu629Lys	coding	Benign/Likely_benign
15	89646033	G	A	G89646033A	KIF7	NM_198525.3(KIF7):c.1789-7C>T	noncoding	Benign
15	89646527	A	C	A89646527C	KIF7	NM_198525.3(KIF7):c.1788+303T>G	noncoding	Benign
15	89646817	A	G	A89646817G	KIF7	NM_198525.3(KIF7):c.1788+13T>C	noncoding	Benign
15	89647716	T	C	T89647716C	KIF7	NM_198525.3(KIF7):c.1444-4A>G	noncoding	Benign
15	89648269	C	T	C89648269T	KIF7	NM_198525.3(KIF7):c.1429G>A:p.Ala477Thr	coding	Benign/Likely_benign
15	89648432	G	C	G89648432C	KIF7	NM_198525.3(KIF7):c.1266C>G:p.Leu422=	coding	Benign/Likely_benign
15	89648509	C	T	C89648509T	KIF7	NM_198525.3(KIF7):c.1189G>A:p.Ala397Thr	coding	Benign
15	89648539	G	T	G89648539T	KIF7	NM_198525.3(KIF7):c.1159C>A:p.Arg387Ser	coding	Benign
15	89648596	T	C	T89648596C	KIF7	NM_198525.3(KIF7):c.1102A>G:p.Thr368Ala	coding	Benign
15	89649810	G	A	G89649810A	KIF7	NM_198525.3(KIF7):c.460C>T:p.Arg154Ter	coding	Pathogenic
15	89649836	T	G	T89649836G	KIF7	NM_198525.3(KIF7):c.434A>C:p.Tyr145Ser	coding	Pathogenic/Likely_pathogenic
15	89652402	C	T	C89652402T	KIF7	NM_198525.3(KIF7):c.328+201G>A	noncoding	Benign
15	89652601	A	C	A89652601C	KIF7	NM_198525.3(KIF7):c.328+2T>G	noncoding	Pathogenic
15	89652637	T	C	T89652637C	KIF7	NM_198525.3(KIF7):c.294A>G:p.Ser98=	coding	Benign/Likely_benign
15	89652715	C	T	C89652715T	KIF7	NM_198525.3(KIF7):c.216G>A:p.Gln72=	coding	Benign
15	89652736	C	G	C89652736G	KIF7	NM_198525.3(KIF7):c.195G>C:p.Ala65=	coding	Benign
15	89652774	G	A	G89652774A	KIF7	NM_198525.3(KIF7):c.157C>T:p.Arg53Ter	coding	Pathogenic
15	89652777	C	T	C89652777T	KIF7	NM_198525.3(KIF7):c.154G>A:p.Asp52Asn	coding	Benign
15	89652864	G	A	G89652864A	KIF7	NM_198525.3(KIF7):c.67C>T:p.Arg23Ter	coding	Pathogenic
15	89652870	G	A	G89652870A	KIF7	NM_198525.3(KIF7):c.61C>T:p.Arg21Ter	coding	Pathogenic
15	89652882	G	A	G89652882A	KIF7	NM_198525.3(KIF7):c.49C>T:p.Arg17Trp	coding	Benign/Likely_benign
15	89652935	A	C	A89652935C	KIF7	NM_198525.3(KIF7):c.-5T>G	noncoding	Benign/Likely_benign
15	89655426	C	A	C89655426A	KIF7	NM_198525.3(KIF7):c.-52G>T	noncoding	Benign
15	89665760	C	A	C89665760A	PLIN1	NM_002666.5(PLIN1):c.1392G>T:p.Ala464=	coding	Benign
15	89665904	G	A	G89665904A	PLIN1	NM_002666.5(PLIN1):c.1248C>T:p.Phe416=	coding	Benign
15	89665943	C	A	C89665943A	PLIN1	NM_002666.5(PLIN1):c.1210-1G>T	coding	Pathogenic
15	89666927	G	A	G89666927A	PLIN1	NM_002666.5(PLIN1):c.1209+9C>T	noncoding	Benign
15	89666966	G	A	G89666966A	PLIN1	NM_002666.5(PLIN1):c.1179C>T:p.Asn393=	coding	Benign
15	89667102	G	A	G89667102A	PLIN1	NM_002666.5(PLIN1):c.1043C>T:p.Ser348Leu	coding	Benign
15	89667751	C	T	C89667751T	PLIN1	NM_002666.5(PLIN1):c.814G>A:p.Val272Met	coding	Benign/Likely_benign
15	89667753	G	A	G89667753A	PLIN1	NM_002666.5(PLIN1):c.812C>T:p.Ala271Val	coding	Benign
15	89669579	C	A	C89669579A	PLIN1	NM_002666.5(PLIN1):c.692G>T:p.Arg231Leu	coding	Benign
15	89670112	C	A	C89670112A	PLIN1	NM_002666.5(PLIN1):c.466G>T:p.Val156Leu	coding	Benign
15	89670164	A	C	A89670164C	PLIN1	NM_002666.5(PLIN1):c.414T>G:p.Thr138=	coding	Benign
15	89673215	G	A	G89673215A	PLIN1	NM_002666.5(PLIN1):c.245C>T:p.Thr82Ile	coding	Benign
15	89673353	C	A	C89673353A	PLIN1	NM_002666.5(PLIN1):c.107G>T:p.Cys36Phe	coding	Benign/Likely_benign
15	89673422	G	A	G89673422A	PLIN1	NM_002666.5(PLIN1):c.46-8C>T	noncoding	Benign
15	89776473	C	A	C89776473A	MESP2	NM_001039958.2(MESP2):c.116C>A:p.Ser39Ter	coding	Pathogenic/Likely_pathogenic
15	89776554	C	G	C89776554G	MESP2	NM_001039958.2(MESP2):c.197C>G:p.Ala66Gly	coding	Benign
15	89776628	A	G	A89776628G	MESP2	NM_001039958.2(MESP2):c.271A>G:p.Lys91Glu	coding	Pathogenic
15	89776663	C	A	C89776663A	MESP2	NM_001039958.2(MESP2):c.306C>A:p.His102Gln	coding	Benign
15	89776664	G	T	G89776664T	MESP2	NM_001039958.2(MESP2):c.307G>T:p.Glu103Ter	coding	Pathogenic
15	89776730	C	G	C89776730G	MESP2	NM_001039958.2(MESP2):c.373C>G:p.Leu125Val	coding	Pathogenic
15	89776742	A	T	A89776742T	MESP2	NM_001039958.2(MESP2):c.385A>T:p.Ile129Phe	coding	Pathogenic
15	89776769	G	A	G89776769A	MESP2	NM_001039958.2(MESP2):c.412G>A:p.Val138Met	coding	Benign
15	89776855	C	A	C89776855A	MESP2	NM_001039958.2(MESP2):c.498C>A:p.Pro166=	coding	Benign
15	89776855	C	G	C89776855G	MESP2	NM_001039958.2(MESP2):c.498C>G:p.Pro166=	coding	Benign/Likely_benign
15	89776888	G	A	G89776888A	MESP2	NM_001039958.2(MESP2):c.531G>A:p.Ala177=	coding	Benign
15	89776915	G	A	G89776915A	MESP2	NM_001039958.2(MESP2):c.558G>A:p.Gln186=	coding	Benign
15	89777027	T	C	T89777027C	MESP2	NM_001039958.2(MESP2):c.670T>C:p.Ser224Pro	coding	Benign
15	89777028	C	T	C89777028T	MESP2	NM_001039958.2(MESP2):c.671C>T:p.Ser224Phe	coding	Benign
15	89777057	G	T	G89777057T	MESP2	NM_001039958.2(MESP2):c.700G>T:p.Glu234Ter	coding	Pathogenic
15	89777074	G	C	G89777074C	MESP2	NM_001039958.2(MESP2):c.717G>C:p.Gly239=	coding	Benign
15	89777265	T	C	T89777265C	MESP2	NM_001039958.2(MESP2):c.908T>C:p.Leu303Pro	coding	Benign/Likely_benign
15	89778765	C	T	C89778765T	MESP2	NM_001039958.2(MESP2):c.*431C>T	noncoding	Benign
15	89792255	G	A	G89792255A	ANPEP	NM_001150.3(ANPEP):c.2433C>T:p.Phe811=	coding	Benign
15	89792502	C	T	C89792502T	ANPEP	NM_001150.3(ANPEP):c.2310G>A:p.Glu770=	coding	Benign
15	89797719	G	C	G89797719C	ANPEP	NM_001150.3(ANPEP):c.2013C>G:p.Ala671=	coding	Benign
15	89799540	G	A	G89799540A	ANPEP	NM_001150.3(ANPEP):c.1839C>T:p.Ser613=	coding	Benign
15	89803637	C	T	C89803637T	ANPEP	NM_001150.3(ANPEP):c.1437+10G>A	noncoding	Benign
15	89803638	G	C	G89803638C	ANPEP	NM_001150.3(ANPEP):c.1437+9C>G	noncoding	Benign
15	89803639	G	C	G89803639C	ANPEP	NM_001150.3(ANPEP):c.1437+8C>G	noncoding	Benign
15	89805961	G	A	G89805961A	ANPEP	NM_001150.3(ANPEP):c.614+9C>T	noncoding	Benign
15	89806286	G	A	G89806286A	ANPEP	NM_001150.3(ANPEP):c.298C>T:p.Leu100=	coding	Benign
15	89806392	G	T	G89806392T	ANPEP	NM_001150.3(ANPEP):c.192C>A:p.Thr64=	coding	Benign
15	90084321	G	A	G90084321A	IDH2	NM_001289910.1(IDH2):c.1148C>T:p.Thr383Met	coding	Benign/Likely_benign
15	90084323	G	C	G90084323C	IDH2	NM_002168.4(IDH2):c.1302C>G:p.Thr434=	coding	Benign
15	90085305	G	A	G90085305A	IDH2	NM_001289910.1(IDH2):c.894C>T:p.Thr298=	coding	Benign/Likely_benign
15	90085317	G	A	G90085317A	IDH2	NM_001289910.1(IDH2):c.882C>T:p.Ala294=	coding	Benign
15	90085362	C	T	C90085362T	IDH2	NM_001289910.1(IDH2):c.837G>A:p.Thr279=	coding	Benign/Likely_benign
15	90087137	A	G	A90087137G	IDH2	NM_002168.4(IDH2):c.942T>C:p.Asp314=	coding	Benign
15	90087140	T	C	T90087140C	IDH2	NM_001289910.1(IDH2):c.783A>G:p.Gly261=	coding	Benign/Likely_benign
15	90087472	C	T	C90087472T	IDH2	NM_001289910.1(IDH2):c.626G>A:p.Arg209His	coding	Benign/Likely_benign
15	90088389	G	A	G90088389A	IDH2	NM_002168.4(IDH2):c.648C>T:p.Gly216=	coding	Benign
15	90088605	C	G	C90088605G	IDH2	NM_001289910.1(IDH2):c.360G>C:p.Arg120Ser	coding	Pathogenic
15	90088606	C	A	C90088606A	IDH2	NM_001289910.1(IDH2):c.359G>T:p.Arg120Met	coding	Pathogenic/Likely_pathogenic
15	90088606	C	T	C90088606T	IDH2	NM_001289910.1(IDH2):c.359G>A:p.Arg120Lys	coding	Pathogenic/Likely_pathogenic
15	90088692	C	G	C90088692G	IDH2	NM_001289910.1(IDH2):c.273G>C:p.Leu91=	coding	Benign/Likely_benign
15	90088702	C	A	C90088702A	IDH2	NM_001289910.1(IDH2):c.263G>T:p.Arg88Leu	coding	Pathogenic/Likely_pathogenic
15	90088702	C	T	C90088702T	IDH2	NM_001289910.1(IDH2):c.263G>A:p.Arg88Gln	coding	Pathogenic/Likely_pathogenic
15	90088703	G	A	G90088703A	IDH2	NM_001289910.1(IDH2):c.262C>T:p.Arg88Trp	coding	Pathogenic/Likely_pathogenic
15	90088703	G	C	G90088703C	IDH2	NM_001289910.1(IDH2):c.262C>G:p.Arg88Gly	coding	Pathogenic
15	90090540	G	A	G90090540A	IDH2	NM_002168.4(IDH2):c.312C>T:p.Thr104=	coding	Benign
15	90091549	C	T	C90091549T	IDH2	NM_002168.4(IDH2):c.207+4G>A	noncoding	Benign
15	90231116	C	T	C90231116T	CIB1	NM_006384.4(CIB1):c.444G>A:p.Glu148=	coding	Benign
15	90231125	A	G	A90231125G	CIB1	NM_006384.4(CIB1):c.435T>C:p.Ser145=	coding	Benign
15	90266396	A	C	A90266396C	NGRN	NM_001033088.3(NGRN):c.273A>C:p.Ile91=	coding	Benign
15	90271327	A	G	A90271327G	NGRN	NM_001033088.3(NGRN):c.415A>G:p.Lys139Glu	coding	Benign
15	90271712	A	G	A90271712G	NGRN	NM_001033088.3(NGRN):c.800A>G:p.Asp267Gly	coding	Benign
15	90360176	A	G	A90360176G	ZNF774	NM_001004309.3(ZNF774):c.345A>G:p.Leu115=	coding	Benign
15	90429671	C	T	C90429671T	IQGAP1	NM_003870.4(IQGAP1):c.390+5C>T	noncoding	Benign
15	90441630	C	T	C90441630T	IQGAP1	NM_003870.4(IQGAP1):c.774C>T:p.Tyr258=	coding	Benign
15	90441637	A	G	A90441637G	IQGAP1	NM_003870.4(IQGAP1):c.781A>G:p.Ile261Val	coding	Benign
15	90476659	A	G	A90476659G	IQGAP1	NM_003870.4(IQGAP1):c.2785-4A>G	noncoding	Benign
15	90484311	G	A	G90484311A	IQGAP1	NM_003870.4(IQGAP1):c.3880G>A:p.Val1294Ile	coding	Benign
15	90486086	A	G	A90486086G	IQGAP1	NM_003870.4(IQGAP1):c.3978A>G:p.Glu1326=	coding	Benign
15	90617932	G	A	G90617932A	CRTC3	NM_022769.5(CRTC3):c.663G>A:p.Pro221=	coding	Benign
15	90641972	G	A	G90641972A	CRTC3	NM_022769.5(CRTC3):c.1692G>A:p.Ala564=	coding	Benign
15	90717456	G	C	G90717456C	BLM	NM_000057.4(BLM):c.-5+16G>C	noncoding	Benign
15	90747491	G	C	G90747491C	BLM	NM_000057.4(BLM):c.98+1G>C	coding	Pathogenic/Likely_pathogenic
15	90747491	G	T	G90747491T	BLM	NM_000057.4(BLM):c.98+1G>T	coding	Pathogenic/Likely_pathogenic
15	90749442	T	C	T90749442C	BLM	NM_000057.4(BLM):c.174T>C:p.Pro58=	coding	Benign/Likely_benign
15	90749472	C	T	C90749472T	BLM	NM_000057.4(BLM):c.204C>T:p.Thr68=	coding	Benign/Likely_benign
15	90749473	G	T	G90749473T	BLM	NM_000057.4(BLM):c.205G>T:p.Glu69Ter	coding	Pathogenic
15	90749678	A	G	A90749678G	BLM	NM_000057.4(BLM):c.410A>G:p.Lys137Arg	coding	Benign/Likely_benign
15	90749687	A	G	A90749687G	BLM	NM_000057.4(BLM):c.419A>G:p.Glu140Gly	coding	Benign
15	90749733	T	C	T90749733C	BLM	NM_000057.4(BLM):c.465T>C:p.Asp155=	coding	Benign/Likely_benign
15	90749765	C	G	C90749765G	BLM	NM_000057.4(BLM):c.497C>G:p.Ser166Ter	coding	Pathogenic
15	90749883	G	A	G90749883A	BLM	NM_000057.4(BLM):c.615G>A:p.Lys205=	coding	Benign/Likely_benign
15	90749938	C	T	C90749938T	BLM	NM_000057.4(BLM):c.670C>T:p.Gln224Ter	coding	Pathogenic
15	90750028	G	T	G90750028T	BLM	NM_000057.4(BLM):c.760G>T:p.Glu254Ter	coding	Pathogenic
15	90751803	G	A	G90751803A	BLM	NM_000057.4(BLM):c.816G>A:p.Lys272=	coding	Benign/Likely_benign
15	90751816	G	T	G90751816T	BLM	NM_000057.4(BLM):c.829G>T:p.Glu277Ter	coding	Pathogenic
15	90751822	G	T	G90751822T	BLM	NM_000057.4(BLM):c.835G>T:p.Glu279Ter	coding	Pathogenic
15	90751880	C	T	C90751880T	BLM	NM_000057.4(BLM):c.893C>T:p.Thr298Met	coding	Benign
15	90760167	C	T	C90760167T	BLM	NM_000057.4(BLM):c.1108C>T:p.Gln370Ter	coding	Pathogenic
15	90760181	T	C	T90760181C	BLM	NM_000057.4(BLM):c.1122T>C:p.His374=	coding	Benign
15	90760657	G	A	G90760657A	BLM	NM_000057.4(BLM):c.1284G>A:p.Trp428Ter	coding	Pathogenic/Likely_pathogenic
15	90760674	C	G	C90760674G	BLM	NM_000057.4(BLM):c.1301C>G:p.Ser434Ter	coding	Pathogenic/Likely_pathogenic
15	90760731	T	G	T90760731G	BLM	NM_000057.4(BLM):c.1358T>G:p.Leu453Ter	coding	Pathogenic
15	90760835	G	T	G90760835T	BLM	NM_000057.4(BLM):c.1462G>T:p.Glu488Ter	coding	Pathogenic
15	90760919	G	T	G90760919T	BLM	NM_000057.4(BLM):c.1546G>T:p.Glu516Ter	coding	Pathogenic
15	90761015	C	T	C90761015T	BLM	NM_000057.4(BLM):c.1642C>T:p.Gln548Ter	coding	Pathogenic
15	90761074	G	A	G90761074A	BLM	NM_000057.4(BLM):c.1701G>A:p.Trp567Ter	coding	Pathogenic/Likely_pathogenic
15	90761095	A	G	A90761095G	BLM	NM_000057.4(BLM):c.1722A>G:p.Leu574=	coding	Benign/Likely_benign
15	90761157	C	G	C90761157G	BLM	NM_000057.4(BLM):c.1784C>G:p.Ser595Ter	coding	Pathogenic
15	90763016	C	T	C90763016T	BLM	NM_000057.4(BLM):c.1933C>T:p.Gln645Ter	coding	Pathogenic
15	90763088	A	T	A90763088T	BLM	NM_000057.4(BLM):c.2005A>T:p.Arg669Ter	coding	Pathogenic
15	90765282	T	C	T90765282C	BLM	NM_000057.4(BLM):c.2075-14T>C	noncoding	Benign
15	90765284	G	T	G90765284T	BLM	NM_000057.4(BLM):c.2075-12G>T	noncoding	Benign
15	90765318	C	A	C90765318A	BLM	NM_000057.4(BLM):c.2097C>A:p.Tyr699Ter	coding	Pathogenic
15	90765319	C	T	C90765319T	BLM	NM_000057.4(BLM):c.2098C>T:p.Gln700Ter	coding	Pathogenic
15	90765381	C	T	C90765381T	BLM	NM_000057.4(BLM):c.2160C>T:p.Ile720=	coding	Benign/Likely_benign
15	90765415	G	A	G90765415A	BLM	NM_000057.4(BLM):c.2193+1G>A	coding	Pathogenic/Likely_pathogenic
15	90766937	A	T	A90766937T	BLM	NM_000057.4(BLM):c.2221A>T:p.Lys741Ter	coding	Pathogenic
15	90766974	T	A	T90766974A	BLM	NM_000057.4(BLM):c.2258T>A:p.Leu753Ter	coding	Pathogenic
15	90769083	G	A	G90769083A	BLM	NM_000057.4(BLM):c.2308-50G>A	noncoding	Benign
15	90769131	A	G	A90769131G	BLM	NM_000057.4(BLM):c.2308-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	90769440	G	A	G90769440A	BLM	NM_000057.4(BLM):c.2409G>A:p.Trp803Ter	coding	Pathogenic
15	90769593	T	C	T90769593C	BLM	NM_000057.4(BLM):c.2555+7T>C	noncoding	Benign
15	90782869	C	T	C90782869T	BLM	NM_000057.4(BLM):c.2603C>T:p.Pro868Leu	coding	Benign
15	90782909	G	A	G90782909A	BLM	NM_000057.4(BLM):c.2643G>A:p.Trp881Ter	coding	Pathogenic
15	90784953	C	T	C90784953T	BLM	NM_000057.4(BLM):c.2695C>T:p.Arg899Ter	coding	Pathogenic/Likely_pathogenic
15	90785059	G	A	G90785059A	BLM	NM_000057.4(BLM):c.2801G>A:p.Trp934Ter	coding	Pathogenic
15	90785067	C	T	C90785067T	BLM	NM_000057.4(BLM):c.2809C>T:p.Gln937Ter	coding	Pathogenic
15	90790700	C	T	C90790700T	BLM	NM_000057.4(BLM):c.2875C>T:p.Arg959Ter	coding	Pathogenic
15	90793909	A	G	A90793909G	BLM	NM_000057.4(BLM):c.3020-258A>G	noncoding	Pathogenic
15	90794234	C	G	C90794234G	BLM	NM_000057.4(BLM):c.3087C>G:p.Tyr1029Ter	coding	Pathogenic
15	90794249	G	A	G90794249A	BLM	NM_000057.4(BLM):c.3102G>A:p.Thr1034=	coding	Benign
15	90794254	G	T	G90794254T	BLM	NM_000057.4(BLM):c.3107G>T:p.Cys1036Phe	coding	Pathogenic
15	90794275	C	A	C90794275A	BLM	NM_000057.4(BLM):c.3128C>A:p.Ala1043Asp	coding	Benign/Likely_benign
15	90794311	G	C	G90794311C	BLM	NM_000057.4(BLM):c.3164G>C:p.Cys1055Ser	coding	Pathogenic/Likely_pathogenic
15	90798369	T	G	T90798369G	BLM	NM_000057.4(BLM):c.3358+32T>G	noncoding	Benign
15	90803541	C	T	C90803541T	BLM	NM_000057.4(BLM):c.3379C>T:p.Gln1127Ter	coding	Pathogenic
15	90803577	C	T	C90803577T	BLM	NM_000057.4(BLM):c.3415C>T:p.Arg1139Ter	coding	Pathogenic
15	90803601	A	T	A90803601T	BLM	NM_000057.4(BLM):c.3439A>T:p.Lys1147Ter	coding	Pathogenic/Likely_pathogenic
15	90803658	C	T	C90803658T	BLM	NM_000057.4(BLM):c.3496C>T:p.Gln1166Ter	coding	Pathogenic
15	90803693	C	A	C90803693A	BLM	NM_000057.4(BLM):c.3531C>A:p.Ala1177=	coding	Benign
15	90804221	G	A	G90804221A	BLM	NM_000057.4(BLM):c.3613G>A:p.Val1205Ile	coding	Benign/Likely_benign
15	90804287	A	T	A90804287T	BLM	NM_000057.4(BLM):c.3679A>T:p.Lys1227Ter	coding	Pathogenic
15	90809232	C	T	C90809232T	BLM	NM_000057.4(BLM):c.3847C>T:p.Gln1283Ter	coding	Pathogenic
15	90811208	A	G	A90811208G	BLM	NM_000057.4(BLM):c.3878A>G:p.Glu1293Gly	coding	Benign
15	90811275	C	T	C90811275T	BLM	NM_000057.4(BLM):c.3945C>T:p.Leu1315=	coding	Benign
15	90811290	C	T	C90811290T	BLM	NM_000057.4(BLM):c.3960C>T:p.Pro1320=	coding	Benign/Likely_benign
15	90811291	G	A	G90811291A	BLM	NM_000057.4(BLM):c.3961G>A:p.Val1321Ile	coding	Benign
15	90815092	C	T	C90815092T	BLM	NM_000057.4(BLM):c.4077-10C>T	noncoding	Benign/Likely_benign
15	90815097	T	C	T90815097C	BLM	NM_000057.4(BLM):c.4077-5T>C	noncoding	Benign/Likely_benign
15	90815387	C	T	C90815387T	BLM	NM_000057.4(BLM):c.*108C>T	noncoding	Benign
15	90889880	A	G	A90889880G	FES	NM_002005.4(FES):c.967A>G:p.Met323Val	coding	Benign
15	90891038	G	A	G90891038A	FES	NM_002005.4(FES):c.1377G>A:p.Leu459=	coding	Benign
15	90892763	G	A	G90892763A	FES	NM_002005.4(FES):c.1764G>A:p.Ala588=	coding	Benign
15	90945029	G	A	G90945029A	UNC45A	NM_018671.5(UNC45A):c.1165G>A:p.Glu389Lys	coding	Benign
15	90957324	C	T	C90957324T	RCCD1	NM_001017919.1(RCCD1):c.378C>T:p.Ala126=	coding	Benign
15	90959965	C	T	C90959965T	RCCD1	NM_001017919.1(RCCD1):c.745C>T:p.Leu249=	coding	Benign
15	90961670	C	T	C90961670T	RCCD1	NM_001017919.1(RCCD1):c.1032C>T:p.Arg344=	coding	Benign
15	90979298	C	T	C90979298T	PRC1	NM_003981.4(PRC1):c.971-4G>A	noncoding	Benign
15	90999725	A	G	A90999725G	VPS33B	NM_018668.4(VPS33B):c.1726T>C:p.Cys576Arg	coding	Pathogenic
15	90999750	G	A	G90999750A	VPS33B	NM_018668.4(VPS33B):c.1701C>T:p.Leu567=	coding	Benign/Likely_benign
15	90999780	T	C	T90999780C	VPS33B	NM_018668.4(VPS33B):c.1671A>G:p.Glu557=	coding	Benign
15	90999901	T	A	T90999901A	VPS33B	NM_018668.4(VPS33B):c.1656A>T:p.Thr552=	coding	Benign
15	90999963	G	A	G90999963A	VPS33B	NM_018668.4(VPS33B):c.1594C>T:p.Arg532Ter	coding	Pathogenic
15	91000531	C	T	C91000531T	VPS33B	NM_018668.4(VPS33B):c.1540G>A:p.Gly514Ser	coding	Benign
15	91000573	C	A	C91000573A	VPS33B	NM_018668.4(VPS33B):c.1498G>T:p.Glu500Ter	coding	Pathogenic
15	91001388	C	T	C91001388T	VPS33B	NM_018668.4(VPS33B):c.1479+1G>A	noncoding	Pathogenic
15	91002063	G	A	G91002063A	VPS33B	NM_018668.4(VPS33B):c.1392C>T:p.Thr464=	coding	Benign
15	91002123	C	T	C91002123T	VPS33B	NM_018668.4(VPS33B):c.1332G>A:p.Thr444=	coding	Benign
15	91002143	G	A	G91002143A	VPS33B	NM_018668.4(VPS33B):c.1312C>T:p.Arg438Ter	coding	Pathogenic
15	91003111	G	A	G91003111A	VPS33B	NM_018668.4(VPS33B):c.1246C>T:p.Arg416Ter	coding	Pathogenic
15	91004872	C	G	C91004872G	VPS33B	NM_018668.4(VPS33B):c.1225+5G>C	noncoding	Pathogenic/Likely_pathogenic
15	91005059	C	T	C91005059T	VPS33B	NM_018668.5(VPS33B):c.1166G>A:p.Arg389Gln	coding	Benign/Likely_benign
15	91005371	G	A	G91005371A	VPS33B	NM_018668.4(VPS33B):c.1105+9C>T	noncoding	Benign
15	91005786	T	C	T91005786C	VPS33B	NM_018668.4(VPS33B):c.940-2A>G	noncoding	Pathogenic
15	91006382	G	C	G91006382C	VPS33B	NM_018668.4(VPS33B):c.842C>G:p.Ala281Gly	coding	Benign/Likely_benign
15	91006949	C	T	C91006949T	VPS33B	NM_018668.4(VPS33B):c.700+1G>A	noncoding	Pathogenic
15	91007002	G	A	G91007002A	VPS33B	NM_018668.4(VPS33B):c.648C>T:p.Gly216=	coding	Benign
15	91007041	T	C	T91007041C	VPS33B	NM_018668.4(VPS33B):c.609A>G:p.Ala203=	coding	Benign
15	91007475	G	A	G91007475A	VPS33B	NM_018668.4(VPS33B):c.597C>T:p.Cys199=	coding	Benign
15	91009799	A	T	A91009799T	VPS33B	NM_018668.4(VPS33B):c.403+2T>A	noncoding	Pathogenic
15	91009841	A	G	A91009841G	VPS33B	NM_018668.4(VPS33B):c.363T>C:p.Tyr121=	coding	Benign/Likely_benign
15	91013804	C	T	C91013804T	VPS33B	NM_018668.4(VPS33B):c.357G>A:p.Lys119=	coding	Benign/Likely_benign
15	91016958	C	T	C91016958T	VPS33B	NM_018668.4(VPS33B):c.239+5G>A	noncoding	Pathogenic
15	91017831	G	A	G91017831A	VPS33B	NM_018668.4(VPS33B):c.151C>T:p.Arg51Ter	coding	Pathogenic
15	91017831	G	T	G91017831T	VPS33B	NM_018668.4(VPS33B):c.151C>A:p.Arg51=	coding	Benign
15	91022161	A	G	A91022161G	VPS33B	NM_001289149.1(VPS33B):c.-123T>C	coding	Pathogenic
15	91022256	G	C	G91022256C	VPS33B	NM_018668.5(VPS33B):c.-7C>G	noncoding	Benign
15	91022257	G	A	G91022257A	VPS33B	NM_018668.4(VPS33B):c.-8C>T	noncoding	Benign
15	91022520	T	G	T91022520G	VPS33B	NM_018668.4(VPS33B):c.-271A>C	noncoding	Benign
15	91022574	A	G	A91022574G	VPS33B	NM_018668.4(VPS33B):c.-325T>C	noncoding	Benign
15	92150944	A	G	A92150944G	SLCO3A1	NM_013272.4(SLCO3A1):c.1689-6A>G	noncoding	Benign
15	92464286	C	T	C92464286T	ST8SIA2	NM_006011.4(ST8SIA2):c.1029C>T:p.Ala343=	coding	Benign
15	92924124	G	T	G92924124T	CHD2	NM_001271.4(CHD2):c.63-197G>T	noncoding	Benign
15	92924161	C	T	C92924161T	CHD2	NM_001271.4(CHD2):c.63-160C>T	noncoding	Benign
15	92924407	G	A	G92924407A	CHD2	NM_001271.4(CHD2):c.149G>A:p.Gly50Asp	coding	Pathogenic
15	92924411	C	T	C92924411T	CHD2	NM_001271.4(CHD2):c.153C>T:p.Ser51=	coding	Benign/Likely_benign
15	92924529	G	T	G92924529T	CHD2	NM_001271.4(CHD2):c.271G>T:p.Glu91Ter	coding	Pathogenic
15	92924664	T	A	T92924664A	CHD2	NM_001271.4(CHD2):c.294+112T>A	noncoding	Benign
15	92927279	G	A	G92927279A	CHD2	NM_001271.4(CHD2):c.330G>A:p.Arg110=	coding	Benign/Likely_benign
15	92927284	C	G	C92927284G	CHD2	NM_001271.4(CHD2):c.335C>G:p.Ser112Ter	coding	Pathogenic
15	92927289	C	T	C92927289T	CHD2	NM_001271.4(CHD2):c.340C>T:p.Arg114Ter	coding	Pathogenic
15	92928726	T	C	T92928726C	CHD2	NM_001271.4(CHD2):c.382-304T>C	noncoding	Benign
15	92929352	C	T	C92929352T	CHD2	NM_001271.4(CHD2):c.443+261C>T	noncoding	Benign
15	92937233	G	A	G92937233A	CHD2	NM_001271.4(CHD2):c.444-285G>A	noncoding	Benign
15	92937590	A	G	A92937590G	CHD2	NM_001271.4(CHD2):c.516A>G:p.Gln172=	coding	Benign/Likely_benign
15	92937603	G	A	G92937603A	CHD2	NM_001271.4(CHD2):c.529G>A:p.Ala177Thr	coding	Benign/Likely_benign
15	92937777	A	G	A92937777G	CHD2	NM_001271.4(CHD2):c.551+152A>G	noncoding	Benign
15	92939426	G	A	G92939426A	CHD2	NM_001271.4(CHD2):c.552-152G>A	noncoding	Benign
15	92939634	A	G	A92939634G	CHD2	NM_001271.4(CHD2):c.608A>G:p.Lys203Arg	coding	Benign/Likely_benign
15	92939639	C	T	C92939639T	CHD2	NM_001271.4(CHD2):c.613C>T:p.Gln205Ter	coding	Pathogenic
15	92939654	G	T	G92939654T	CHD2	NM_001271.4(CHD2):c.628G>T:p.Glu210Ter	coding	Pathogenic
15	92939696	C	T	C92939696T	CHD2	NM_001271.4(CHD2):c.670C>T:p.Arg224Ter	coding	Pathogenic
15	92941697	G	T	G92941697T	CHD2	NM_001271.4(CHD2):c.693-125G>T	noncoding	Benign
15	92941802	C	T	C92941802T	CHD2	NM_001271.4(CHD2):c.693-20C>T	noncoding	Benign
15	92941820	A	G	A92941820G	CHD2	NM_001271.4(CHD2):c.693-2A>G	noncoding	Pathogenic
15	92941820	A	T	A92941820T	CHD2	NM_001271.4(CHD2):c.693-2A>T	noncoding	Pathogenic
15	92941868	G	T	G92941868T	CHD2	NM_001271.4(CHD2):c.739G>T:p.Glu247Ter	coding	Pathogenic
15	92941959	T	C	T92941959C	CHD2	NM_001271.4(CHD2):c.826+4T>C	noncoding	Benign/Likely_benign
15	92942226	C	G	C92942226G	CHD2	NM_001271.4(CHD2):c.826+271C>G	noncoding	Benign
15	92942865	A	G	A92942865G	CHD2	NM_001271.4(CHD2):c.849A>G:p.Val283=	coding	Benign
15	92942870	C	T	C92942870T	CHD2	NM_001271.4(CHD2):c.854C>T:p.Ala285Val	coding	Benign/Likely_benign
15	92942871	G	A	G92942871A	CHD2	NM_001271.4(CHD2):c.855G>A:p.Ala285=	coding	Benign
15	92942923	G	A	G92942923A	CHD2	NM_001271.4(CHD2):c.907G>A:p.Gly303Ser	coding	Benign
15	92942964	C	A	C92942964A	CHD2	NM_001271.4(CHD2):c.948C>A:p.Tyr316Ter	coding	Pathogenic
15	92942976	A	T	A92942976T	CHD2	NM_001271.4(CHD2):c.960A>T:p.Thr320=	coding	Benign/Likely_benign
15	92942998	C	T	C92942998T	CHD2	NM_001271.4(CHD2):c.982C>T:p.Gln328Ter	coding	Pathogenic
15	92943033	G	A	G92943033A	CHD2	NM_001271.4(CHD2):c.1017G>A:p.Glu339=	coding	Benign
15	92943065	A	T	A92943065T	CHD2	NM_001271.4(CHD2):c.1049A>T:p.Gln350Leu	coding	Benign/Likely_benign
15	92943068	G	A	G92943068A	CHD2	NM_001271.4(CHD2):c.1052G>A:p.Trp351Ter	coding	Pathogenic
15	92943391	A	G	A92943391G	CHD2	NM_001271.4(CHD2):c.1052+323A>G	noncoding	Benign
15	92944415	G	A	G92944415A	CHD2	NM_001271.4(CHD2):c.1053G>A:p.Trp351Ter	coding	Pathogenic
15	92944443	G	T	G92944443T	CHD2	NM_001271.4(CHD2):c.1081G>T:p.Glu361Ter	coding	Pathogenic
15	92944461	C	T	C92944461T	CHD2	NM_001271.4(CHD2):c.1099C>T:p.Gln367Ter	coding	Pathogenic
15	92944624	G	C	G92944624C	CHD2	NM_001271.4(CHD2):c.1153+109G>C	noncoding	Benign
15	92945837	A	G	A92945837G	CHD2	NM_001271.4(CHD2):c.1170A>G:p.Lys390=	coding	Benign
15	92946073	G	T	G92946073T	CHD2	NM_001271.4(CHD2):c.1234G>T:p.Glu412Ter	coding	Pathogenic
15	92948970	C	T	C92948970T	CHD2	NM_001271.4(CHD2):c.1396C>T:p.Arg466Ter	coding	Pathogenic
15	92949027	C	T	C92949027T	CHD2	NM_001271.4(CHD2):c.1453C>T:p.Arg485Ter	coding	Pathogenic
15	92949036	C	T	C92949036T	CHD2	NM_001271.4(CHD2):c.1462C>T:p.Gln488Ter	coding	Pathogenic
15	92949055	G	A	G92949055A	CHD2	NM_001271.4(CHD2):c.1481G>A:p.Trp494Ter	coding	Pathogenic
15	92949077	G	A	G92949077A	CHD2	NM_001271.4(CHD2):c.1502+1G>A	coding	Pathogenic
15	92953496	T	C	T92953496C	CHD2	NM_001271.4(CHD2):c.1642T>C:p.Trp548Arg	coding	Pathogenic
15	92953573	G	A	G92953573A	CHD2	NM_001271.4(CHD2):c.1719G>A:p.Thr573=	coding	Pathogenic/Likely_pathogenic
15	92953808	G	A	G92953808A	CHD2	NM_001271.4(CHD2):c.1719+235G>A	noncoding	Benign
15	92955491	T	C	T92955491C	CHD2	NM_001271.4(CHD2):c.1788T>C:p.Tyr596=	coding	Benign
15	92955513	G	A	G92955513A	CHD2	NM_001271.4(CHD2):c.1809+1G>A	coding	Pathogenic
15	92956155	A	G	A92956155G	CHD2	NM_001271.4(CHD2):c.1810-304A>G	noncoding	Benign
15	92956457	A	C	A92956457C	CHD2	NM_001271.4(CHD2):c.1810-2A>C	noncoding	Pathogenic
15	92956532	T	G	T92956532G	CHD2	NM_001271.4(CHD2):c.1883T>G:p.Leu628Ter	coding	Pathogenic
15	92956591	C	T	C92956591T	CHD2	NM_001271.4(CHD2):c.1942C>T:p.Pro648Ser	coding	Pathogenic
15	92956644	G	A	G92956644A	CHD2	NM_001271.4(CHD2):c.1995G>A:p.Pro665=	coding	Benign
15	92967373	A	G	A92967373G	CHD2	NM_001271.4(CHD2):c.2049A>G:p.Glu683=	coding	Benign
15	92971912	A	G	A92971912G	CHD2	NM_001271.4(CHD2):c.2337A>G:p.Gly779=	coding	Benign
15	92972209	G	A	G92972209A	CHD2	NM_001271.4(CHD2):c.2353-56G>A	noncoding	Benign
15	92972255	A	G	A92972255G	CHD2	NM_001271.4(CHD2):c.2353-10A>G	noncoding	Benign
15	92972337	C	T	C92972337T	CHD2	NM_001271.4(CHD2):c.2425C>T:p.Arg809Ter	coding	Pathogenic/Likely_pathogenic
15	92972380	T	C	T92972380C	CHD2	NM_001271.4(CHD2):c.2468T>C:p.Leu823Pro	coding	Pathogenic
15	92974940	A	G	A92974940G	CHD2	NM_001271.4(CHD2):c.2567A>G:p.Asp856Gly	coding	Pathogenic
15	92974957	T	C	T92974957C	CHD2	NM_001271.4(CHD2):c.2577+7T>C	noncoding	Benign
15	92978253	C	A	C92978253A	CHD2	NM_001271.4(CHD2):c.2597C>A:p.Ser866Ter	coding	Pathogenic
15	92978322	G	A	G92978322A	CHD2	NM_001271.4(CHD2):c.2666G>A:p.Trp889Ter	coding	Pathogenic
15	92978330	C	T	C92978330T	CHD2	NM_001271.4(CHD2):c.2674C>T:p.Gln892Ter	coding	Pathogenic
15	92978374	A	G	A92978374G	CHD2	NM_001271.4(CHD2):c.2718A>G:p.Gln906=	coding	Benign
15	92978381	C	T	C92978381T	CHD2	NM_001271.4(CHD2):c.2725C>T:p.Gln909Ter	coding	Pathogenic
15	92979082	G	A	G92979082A	CHD2	NM_001271.4(CHD2):c.2728-53G>A	noncoding	Benign
15	92979132	C	T	C92979132T	CHD2	NM_001271.4(CHD2):c.2728-3C>T	noncoding	Benign
15	92979137	A	T	A92979137T	CHD2	NM_001271.4(CHD2):c.2730A>T:p.Val910=	coding	Benign/Likely_benign
15	92979322	T	C	T92979322C	CHD2	NM_001271.4(CHD2):c.2876+39T>C	noncoding	Benign
15	92980901	C	G	C92980901G	CHD2	NM_001271.4(CHD2):c.2963C>G:p.Ser988Ter	coding	Pathogenic
15	92980968	A	G	A92980968G	CHD2	NM_001271.4(CHD2):c.2973+57A>G	noncoding	Benign
15	92981637	G	A	G92981637A	CHD2	NM_001271.4(CHD2):c.3066+180G>A	noncoding	Benign
15	92984328	A	G	A92984328G	CHD2	NM_001271.4(CHD2):c.3067-2A>G	noncoding	Pathogenic
15	92984389	C	T	C92984389T	CHD2	NM_001271.4(CHD2):c.3126C>T:p.Asp1042=	coding	Benign/Likely_benign
15	92984450	G	T	G92984450T	CHD2	NM_001271.4(CHD2):c.3187G>T:p.Glu1063Ter	coding	Pathogenic
15	92984477	C	T	C92984477T	CHD2	NM_001271.4(CHD2):c.3214C>T:p.Arg1072Ter	coding	Pathogenic
15	92984564	A	T	A92984564T	CHD2	NM_001271.4(CHD2):c.3237+64A>T	noncoding	Benign
15	92984758	G	C	G92984758C	CHD2	NM_001271.4(CHD2):c.3237+258G>C	noncoding	Benign
15	92984785	C	T	C92984785T	CHD2	NM_001271.4(CHD2):c.3237+285C>T	noncoding	Benign
15	92985243	T	C	T92985243C	CHD2	NM_001271.4(CHD2):c.3238-255T>C	noncoding	Benign
15	92985539	G	A	G92985539A	CHD2	NM_001271.4(CHD2):c.3279G>A:p.Arg1093=	coding	Benign
15	92985575	G	A	G92985575A	CHD2	NM_001271.4(CHD2):c.3315G>A:p.Thr1105=	coding	Benign/Likely_benign
15	92985581	C	T	C92985581T	CHD2	NM_001271.4(CHD2):c.3321C>T:p.Asp1107=	coding	Benign/Likely_benign
15	92985609	A	T	A92985609T	CHD2	NM_001271.4(CHD2):c.3349A>T:p.Arg1117Ter	coding	Pathogenic
15	92985660	G	A	G92985660A	CHD2	NM_001271.4(CHD2):c.3400G>A:p.Ala1134Thr	coding	Benign/Likely_benign
15	92985669	C	T	C92985669T	CHD2	NM_001271.4(CHD2):c.3409C>T:p.Arg1137Ter	coding	Pathogenic
15	92985689	G	A	G92985689A	CHD2	NM_001271.4(CHD2):c.3413+16G>A	noncoding	Benign
15	92991222	C	T	C92991222T	CHD2	NM_001271.4(CHD2):c.3414-254C>T	noncoding	Benign
15	92991703	A	G	A92991703G	CHD2	NM_001271.4(CHD2):c.3455+186A>G	noncoding	Benign
15	92992943	C	T	C92992943T	CHD2	NM_001271.4(CHD2):c.3540C>T:p.Ser1180=	coding	Benign
15	92992951	C	A	C92992951A	CHD2	NM_001271.4(CHD2):c.3548C>A:p.Ser1183Ter	coding	Pathogenic
15	92992967	C	G	C92992967G	CHD2	NM_001271.4(CHD2):c.3564C>G:p.Tyr1188Ter	coding	Pathogenic
15	92992967	C	T	C92992967T	CHD2	NM_001271.4(CHD2):c.3564C>T:p.Tyr1188=	coding	Benign
15	92992974	C	T	C92992974T	CHD2	NM_001271.4(CHD2):c.3571C>T:p.Gln1191Ter	coding	Pathogenic
15	92992976	G	A	G92992976A	CHD2	NM_001271.4(CHD2):c.3573G>A:p.Gln1191=	coding	Benign/Likely_benign
15	92996859	T	C	T92996859C	CHD2	NM_001271.4(CHD2):c.3596-98T>C	noncoding	Benign
15	92996937	G	A	G92996937A	CHD2	NM_001271.4(CHD2):c.3596-20G>A	noncoding	Benign
15	92997061	A	T	A92997061T	CHD2	NM_001271.4(CHD2):c.3700A>T:p.Lys1234Ter	coding	Pathogenic
15	92997102	A	G	A92997102G	CHD2	NM_001271.4(CHD2):c.3734+7A>G	noncoding	Benign/Likely_benign
15	92997300	G	A	G92997300A	CHD2	NM_001271.4(CHD2):c.3782G>A:p.Trp1261Ter	coding	Pathogenic
15	92998538	C	T	C92998538T	CHD2	NM_001271.4(CHD2):c.3925C>T:p.Gln1309Ter	coding	Pathogenic
15	92998550	C	T	C92998550T	CHD2	NM_001271.4(CHD2):c.3937C>T:p.Arg1313Ter	coding	Pathogenic
15	92998616	G	T	G92998616T	CHD2	NM_001271.4(CHD2):c.4003G>T:p.Glu1335Ter	coding	Pathogenic
15	92998858	C	T	C92998858T	CHD2	NM_001271.4(CHD2):c.4008+237C>T	noncoding	Benign
15	93000301	A	T	A93000301T	CHD2	NM_001271.4(CHD2):c.4009-211A>T	noncoding	Benign
15	93000609	C	G	C93000609G	CHD2	NM_001271.4(CHD2):c.4106C>G:p.Ser1369Ter	coding	Pathogenic
15	93000726	G	A	G93000726A	CHD2	NM_001271.4(CHD2):c.4137+86G>A	noncoding	Benign
15	93000823	A	G	A93000823G	CHD2	NM_001271.4(CHD2):c.4137+183A>G	noncoding	Benign
15	93002162	T	G	T93002162G	CHD2	NM_001271.4(CHD2):c.4138-15T>G	noncoding	Benign
15	93002171	T	C	T93002171C	CHD2	NM_001271.4(CHD2):c.4138-6T>C	noncoding	Benign
15	93002213	C	T	C93002213T	CHD2	NM_001271.4(CHD2):c.4174C>T:p.Gln1392Ter	coding	Pathogenic
15	93002258	T	A	T93002258A	CHD2	NM_001271.4(CHD2):c.4219T>A:p.Ser1407Thr	coding	Benign
15	93002344	A	G	A93002344G	CHD2	NM_001271.4(CHD2):c.4278+27A>G	noncoding	Benign
15	93002601	G	T	G93002601T	CHD2	NM_001271.4(CHD2):c.4278+284G>T	noncoding	Benign
15	93004345	T	C	T93004345C	CHD2	NM_001271.4(CHD2):c.4279-272T>C	noncoding	Benign
15	93004622	A	G	A93004622G	CHD2	NM_001271.4(CHD2):c.4284A>G:p.Lys1428=	coding	Benign/Likely_benign
15	93004752	G	A	G93004752A	CHD2	NM_001271.4(CHD2):c.4413+1G>A	coding	Pathogenic
15	93004766	C	T	C93004766T	CHD2	NM_001271.4(CHD2):c.4413+15C>T	noncoding	Benign
15	93009249	G	A	G93009249A	CHD2	NM_001271.4(CHD2):c.4518G>A:p.Leu1506=	coding	Benign
15	93009258	C	T	C93009258T	CHD2	NM_001271.4(CHD2):c.4527C>T:p.Ile1509=	coding	Benign
15	93009298	C	T	C93009298T	CHD2	NM_001271.4(CHD2):c.4567C>T:p.Gln1523Ter	coding	Pathogenic
15	93009341	G	A	G93009341A	CHD2	NM_001271.4(CHD2):c.4592+18G>A	noncoding	Benign/Likely_benign
15	93012353	G	A	G93012353A	CHD2	NM_001271.4(CHD2):c.4601G>A:p.Trp1534Ter	coding	Pathogenic
15	93012487	A	G	A93012487G	CHD2	NM_001271.4(CHD2):c.4692+43A>G	noncoding	Benign
15	93012643	T	A	T93012643A	CHD2	NM_001271.4(CHD2):c.4692+199T>A	noncoding	Benign
15	93014518	C	T	C93014518T	CHD2	NM_001271.4(CHD2):c.4693-178C>T	noncoding	Benign
15	93014724	G	C	G93014724C	CHD2	NM_001271.4(CHD2):c.4721G>C:p.Gly1574Ala	coding	Benign
15	93014727	G	C	G93014727C	CHD2	NM_001271.4(CHD2):c.4724G>C:p.Gly1575Ala	coding	Benign
15	93014810	C	T	C93014810T	CHD2	NM_001271.4(CHD2):c.4807C>T:p.Pro1603Ser	coding	Benign/Likely_benign
15	93014832	C	T	C93014832T	CHD2	NM_001271.4(CHD2):c.4829C>T:p.Ala1610Val	coding	Pathogenic
15	93014877	A	G	A93014877G	CHD2	NM_001271.4(CHD2):c.4874A>G:p.Asn1625Ser	coding	Benign/Likely_benign
15	93014904	A	C	A93014904C	CHD2	NM_001271.4(CHD2):c.4901A>C:p.Asn1634Thr	coding	Benign
15	93020014	C	T	C93020014T	CHD2	NM_001271.4(CHD2):c.4909C>T:p.Arg1637Ter	coding	Pathogenic
15	93020026	C	T	C93020026T	CHD2	NM_001271.4(CHD2):c.4921C>T:p.Gln1641Ter	coding	Pathogenic
15	93020076	G	A	G93020076A	CHD2	NM_001271.4(CHD2):c.4971G>A:p.Trp1657Ter	coding	Pathogenic/Likely_pathogenic
15	93020104	C	T	C93020104T	CHD2	NM_001271.4(CHD2):c.4999C>T:p.Gln1667Ter	coding	Pathogenic
15	93020140	C	T	C93020140T	CHD2	NM_001271.4(CHD2):c.5035C>T:p.Arg1679Ter	coding	Pathogenic
15	93020152	G	A	G93020152A	CHD2	NM_001271.4(CHD2):c.5047G>A:p.Ala1683Thr	coding	Benign/Likely_benign
15	93020154	C	T	C93020154T	CHD2	NM_001271.4(CHD2):c.5049C>T:p.Ala1683=	coding	Benign/Likely_benign
15	93020155	C	T	C93020155T	CHD2	NM_001271.4(CHD2):c.5050C>T:p.His1684Tyr	coding	Benign/Likely_benign
15	93020173	C	T	C93020173T	CHD2	NM_001271.4(CHD2):c.5068C>T:p.Arg1690Ter	coding	Pathogenic
15	93020209	C	G	C93020209G	CHD2	NM_001271.4(CHD2):c.5104C>G:p.Gln1702Glu	coding	Benign
15	93020211	G	A	G93020211A	CHD2	NM_001271.4(CHD2):c.5106G>A:p.Gln1702=	coding	Benign/Likely_benign
15	93020382	C	G	C93020382G	CHD2	NM_001271.4(CHD2):c.5153+124C>G	noncoding	Benign
15	93024122	G	A	G93024122A	CHD2	NM_001271.4(CHD2):c.5154-250G>A	noncoding	Benign
15	93024297	C	T	C93024297T	CHD2	NM_001271.4(CHD2):c.5154-75C>T	noncoding	Benign
15	93024298	C	T	C93024298T	CHD2	NM_001271.4(CHD2):c.5154-74C>T	noncoding	Benign
15	93024486	G	C	G93024486C	CHD2	NM_001271.4(CHD2):c.5268G>C:p.Gln1756His	coding	Benign/Likely_benign
15	93024634	A	C	A93024634C	CHD2	NM_001271.4(CHD2):c.5416A>C:p.Arg1806=	coding	Benign
15	93045427	G	A	G93045427A	RGMA	NM_001166283.1(RGMA):c.948C>T:p.Asp316=	coding	Benign
15	93073717	A	G	A93073717G	RGMA	NM_001166283.1(RGMA):c.38+2T>C	noncoding	Benign
15	94298382	G	A	G94298382A	MCTP2	NM_018349.3(MCTP2):c.117G>A:p.Arg39=	coding	Benign
15	94298443	G	A	G94298443A	MCTP2	NM_018349.3(MCTP2):c.178G>A:p.Ala60Thr	coding	Benign
15	94298472	C	T	C94298472T	MCTP2	NM_018349.3(MCTP2):c.207C>T:p.Ser69=	coding	Benign
15	94298718	A	G	A94298718G	MCTP2	NM_018349.3(MCTP2):c.453A>G:p.Pro151=	coding	Benign
15	94315579	G	A	G94315579A	MCTP2	NM_018349.3(MCTP2):c.579G>A:p.Ala193=	coding	Benign
15	94356150	G	A	G94356150A	MCTP2	NM_018349.3(MCTP2):c.1019G>A:p.Arg340His	coding	Benign
15	94358505	G	A	G94358505A	MCTP2	NM_018349.3(MCTP2):c.1194G>A:p.Pro398=	coding	Benign
15	94367707	A	G	A94367707G	MCTP2	NM_018349.3(MCTP2):c.1404A>G:p.Thr468=	coding	Benign
15	94367725	C	T	C94367725T	MCTP2	NM_018349.3(MCTP2):c.1422C>T:p.Ser474=	coding	Benign
15	94384016	T	C	T94384016C	MCTP2	NM_018349.3(MCTP2):c.1583-6T>C	noncoding	Benign
15	94399915	T	C	T94399915C	MCTP2	NM_018349.3(MCTP2):c.1891-6T>C	noncoding	Benign
15	94402017	G	A	G94402017A	MCTP2	NM_018349.3(MCTP2):c.2083G>A:p.Ala695Thr	coding	Benign
15	94440167	T	G	T94440167G	MCTP2	NM_018349.3(MCTP2):c.2086-9T>G	noncoding	Benign
15	94470358	C	G	C94470358G	MCTP2	NM_018349.3(MCTP2):c.2386C>G:p.Leu796Val	coding	Benign
15	94476698	A	T	A94476698T	MCTP2	NM_018349.3(MCTP2):c.2473A>T:p.Ile825Leu	coding	Benign
15	94479026	G	A	G94479026A	MCTP2	NM_018349.3(MCTP2):c.2629G>A:p.Ala877Thr	coding	Benign
15	96332169	C	T	C96332169T	NR2F2	NM_021005.4(NR2F2):c.64C>T:p.Gln22Ter	coding	Pathogenic
15	96332322	C	T	C96332322T	NR2F2	NM_021005.4(NR2F2):c.217C>T:p.Gln73Ter	coding	Pathogenic
15	96332352	G	T	G96332352T	NR2F2	NM_021005.4(NR2F2):c.247G>T:p.Gly83Ter	coding	Pathogenic
15	96334170	C	T	C96334170T	NR2F2	NM_021005.4(NR2F2):c.537C>T:p.Ser179=	coding	Benign
15	96334247	A	T	A96334247T	NR2F2	NM_021005.4(NR2F2):c.614A>T:p.Asn205Ile	coding	Pathogenic
15	96334467	G	A	G96334467A	NR2F2	NM_021005.4(NR2F2):c.834G>A:p.Ser278=	coding	Benign
15	96334604	G	A	G96334604A	NR2F2	NM_021005.4(NR2F2):c.970+1G>A	coding	Pathogenic
15	96337399	C	A	C96337399A	NR2F2	NM_021005.4(NR2F2):c.1022C>A:p.Ser341Tyr	coding	Pathogenic
15	96337474	G	C	G96337474C	NR2F2	NM_021005.4(NR2F2):c.1097G>C:p.Arg366Pro	coding	Pathogenic
15	97965937	G	C	G97965937C	ARRDC4	NM_183376.3(ARRDC4):c.417G>C:p.Gln139His	coding	Benign
15	98649531	T	C	T98649531C	IGF1R	NM_000875.5(IGF1R):c.-51T>C	noncoding	Benign
15	98649596	C	T	C98649596T	IGF1R	NM_000875.5(IGF1R):c.15C>T:p.Ser5=	coding	Benign
15	98649689	C	T	C98649689T	IGF1R	NM_000875.5(IGF1R):c.94+14C>T	coding	Benign
15	98707692	C	T	C98707692T	IGF1R	NM_000875.5(IGF1R):c.225C>T:p.Phe75=	coding	Benign/Likely_benign
15	98707704	G	T	G98707704T	IGF1R	NM_000875.5(IGF1R):c.237G>T:p.Thr79=	coding	Benign
15	98707851	T	C	T98707851C	IGF1R	NM_000875.5(IGF1R):c.384T>C:p.Ile128=	coding	Pathogenic
15	98707869	G	A	G98707869A	IGF1R	NM_000875.5(IGF1R):c.402G>A:p.Arg134=	coding	Benign
15	98891530	C	T	C98891530T	IGF1R	NM_000875.5(IGF1R):c.846C>T:p.Cys282=	coding	Benign
15	98891548	C	T	C98891548T	IGF1R	NM_000875.5(IGF1R):c.864C>T:p.Ala288=	coding	Benign
15	98891569	G	A	G98891569A	IGF1R	NM_000875.5(IGF1R):c.885G>A:p.Gly295=	coding	Benign
15	98891587	C	A	C98891587A	IGF1R	NM_000875.5(IGF1R):c.903C>A:p.Gly301=	coding	Benign
15	98891588	G	T	G98891588T	IGF1R	NM_000875.5(IGF1R):c.904G>T:p.Glu302Ter	coding	Pathogenic
15	98896838	T	G	T98896838G	IGF1R	NM_000875.5(IGF1R):c.1035T>G:p.Thr345=	coding	Benign
15	98899536	G	A	G98899536A	IGF1R	NM_000875.5(IGF1R):c.1162G>A:p.Val388Met	coding	Benign
15	98908747	G	A	G98908747A	IGF1R	NM_000875.5(IGF1R):c.1310G>A:p.Arg437His	coding	Benign/Likely_benign
15	98908773	A	G	A98908773G	IGF1R	NM_000875.5(IGF1R):c.1336A>G:p.Met446Val	coding	Benign/Likely_benign
15	98911310	C	A	C98911310A	IGF1R	NM_000875.5(IGF1R):c.1463-5C>A	noncoding	Benign/Likely_benign
15	98911326	G	A	G98911326A	IGF1R	NM_000875.5(IGF1R):c.1474G>A:p.Val492Ile	coding	Benign
15	98913024	T	C	T98913024C	IGF1R	NM_000875.5(IGF1R):c.1590-20T>C	noncoding	Benign
15	98913035	G	A	G98913035A	IGF1R	NM_000875.5(IGF1R):c.1590-9G>A	noncoding	Benign
15	98913043	G	C	G98913043C	IGF1R	NM_000875.5(IGF1R):c.1590-1G>C	noncoding	Pathogenic
15	98913140	G	A	G98913140A	IGF1R	NM_000875.5(IGF1R):c.1686G>A:p.Val562=	coding	Benign
15	98913227	C	T	C98913227T	IGF1R	NM_000875.5(IGF1R):c.1773C>T:p.Asn591=	coding	Benign
15	98916049	C	T	C98916049T	IGF1R	NM_000875.5(IGF1R):c.1914C>T:p.Asn638=	coding	Benign
15	98916066	A	G	A98916066G	IGF1R	NM_000875.5(IGF1R):c.1931A>G:p.Tyr644Cys	coding	Pathogenic
15	98916084	G	A	G98916084A	IGF1R	NM_000875.5(IGF1R):c.1949G>A:p.Arg650Gln	coding	Benign
15	98916085	G	T	G98916085T	IGF1R	NM_000875.5(IGF1R):c.1950G>T:p.Arg650=	coding	Benign/Likely_benign
15	98922220	G	A	G98922220A	IGF1R	NM_000875.5(IGF1R):c.2274G>A:p.Thr758=	coding	Benign
15	98922244	C	T	C98922244T	IGF1R	NM_000875.5(IGF1R):c.2298C>T:p.Thr766=	coding	Benign
15	98923960	A	G	A98923960G	IGF1R	NM_000875.5(IGF1R):c.2570A>G:p.Asn857Ser	coding	Benign
15	98923968	G	T	G98923968T	IGF1R	NM_000875.5(IGF1R):c.2578G>T:p.Gly860Ter	coding	Pathogenic
15	98924602	C	T	C98924602T	IGF1R	NM_000875.5(IGF1R):c.2700C>T:p.Asn900=	coding	Benign/Likely_benign
15	98934996	G	A	G98934996A	IGF1R	NM_000875.5(IGF1R):c.3129G>A:p.Glu1043=	coding	Benign
15	98939192	C	G	C98939192G	IGF1R	NM_000875.5(IGF1R):c.3298-9C>G	noncoding	Benign
15	98939357	G	A	G98939357A	IGF1R	NM_000875.5(IGF1R):c.3454G>A:p.Gly1152Arg	coding	Pathogenic
15	98942936	G	A	G98942936A	IGF1R	NM_000875.5(IGF1R):c.3471G>A:p.Thr1157=	coding	Benign
15	98943047	C	T	C98943047T	IGF1R	NM_000875.5(IGF1R):c.3582C>T:p.Asp1194=	coding	Benign/Likely_benign
15	98957057	G	A	G98957057A	IGF1R	NM_000875.5(IGF1R):c.3723-4G>A	noncoding	Benign/Likely_benign
15	98957376	C	T	C98957376T	IGF1R	NM_000875.5(IGF1R):c.4038C>T:p.Tyr1346=	coding	Benign
15	98957403	C	T	C98957403T	IGF1R	NM_000875.5(IGF1R):c.4065C>T:p.Asn1355=	coding	Benign/Likely_benign
15	98957418	G	A	G98957418A	IGF1R	NM_000875.5(IGF1R):c.4080G>A:p.Pro1360=	coding	Benign
15	98958316	C	T	C98958316T	IGF1R	NM_000875.5(IGF1R):c.*874C>T	noncoding	Benign
15	98958419	C	T	C98958419T	IGF1R	NM_000875.5(IGF1R):c.*977C>T	noncoding	Benign
15	98958529	A	G	A98958529G	IGF1R	NM_000875.5(IGF1R):c.*1087A>G	noncoding	Benign
15	98958594	G	A	G98958594A	IGF1R	NM_000875.5(IGF1R):c.*1152G>A	noncoding	Benign
15	98958670	G	A	G98958670A	IGF1R	NM_000875.5(IGF1R):c.*1228G>A	noncoding	Benign
15	98958867	A	C	A98958867C	IGF1R	NM_000875.5(IGF1R):c.*1425A>C	noncoding	Benign
15	98959166	C	T	C98959166T	IGF1R	NM_000875.5(IGF1R):c.*1724C>T	noncoding	Benign
15	98959298	C	T	C98959298T	IGF1R	NM_000875.5(IGF1R):c.*1856C>T	noncoding	Benign
15	98959654	G	A	G98959654A	IGF1R	NM_000875.5(IGF1R):c.*2212G>A	noncoding	Benign
15	98960516	G	A	G98960516A	IGF1R	NM_000875.5(IGF1R):c.*3074G>A	noncoding	Benign
15	98960571	G	T	G98960571T	IGF1R	NM_000875.5(IGF1R):c.*3129G>T	noncoding	Benign
15	98960607	T	C	T98960607C	IGF1R	NM_000875.5(IGF1R):c.*3165T>C	noncoding	Benign
15	98960775	G	A	G98960775A	IGF1R	NM_000875.5(IGF1R):c.*3333G>A	noncoding	Benign
15	98960900	G	A	G98960900A	IGF1R	NM_000875.5(IGF1R):c.*3458G>A	noncoding	Benign
15	98961208	C	T	C98961208T	IGF1R	NM_000875.5(IGF1R):c.*3766C>T	noncoding	Benign
15	98961442	C	T	C98961442T	IGF1R	NM_000875.5(IGF1R):c.*4000C>T	noncoding	Benign
15	98961614	C	T	C98961614T	IGF1R	NM_000875.5(IGF1R):c.*4172C>T	noncoding	Benign
15	98961771	G	A	G98961771A	IGF1R	NM_000875.5(IGF1R):c.*4329G>A	noncoding	Benign
15	98961833	C	T	C98961833T	IGF1R	NM_000875.5(IGF1R):c.*4391C>T	noncoding	Benign
15	98961900	C	G	C98961900G	IGF1R	NM_000875.5(IGF1R):c.*4458C>G	noncoding	Benign
15	98961954	G	A	G98961954A	IGF1R	NM_000875.5(IGF1R):c.*4512G>A	noncoding	Benign
15	98961955	A	G	A98961955G	IGF1R	NM_000875.5(IGF1R):c.*4513A>G	noncoding	Benign
15	98962087	C	T	C98962087T	IGF1R	NM_000875.5(IGF1R):c.*4645C>T	noncoding	Benign
15	98962194	G	T	G98962194T	IGF1R	NM_000875.5(IGF1R):c.*4752G>T	noncoding	Benign
15	98962256	C	T	C98962256T	IGF1R	NM_000875.5(IGF1R):c.*4814C>T	noncoding	Benign
15	98962257	G	A	G98962257A	IGF1R	NM_000875.5(IGF1R):c.*4815G>A	noncoding	Benign
15	98962588	G	A	G98962588A	IGF1R	NM_000875.5(IGF1R):c.*5146G>A	noncoding	Benign
15	98962593	T	C	T98962593C	IGF1R	NM_000875.5(IGF1R):c.*5151T>C	noncoding	Benign
15	98962599	A	G	A98962599G	IGF1R	NM_000875.5(IGF1R):c.*5157A>G	noncoding	Benign
15	98962669	C	T	C98962669T	IGF1R	NM_000875.5(IGF1R):c.*5227C>T	noncoding	Benign
15	98962751	C	T	C98962751T	IGF1R	NM_000875.5(IGF1R):c.*5309C>T	noncoding	Benign
15	98962878	C	T	C98962878T	IGF1R	NM_000875.5(IGF1R):c.*5436C>T	noncoding	Benign
15	98962900	A	G	A98962900G	IGF1R	NM_000875.5(IGF1R):c.*5458A>G	noncoding	Benign
15	98962970	G	A	G98962970A	IGF1R	NM_000875.5(IGF1R):c.*5528G>A	noncoding	Benign
15	98963012	C	T	C98963012T	IGF1R	NM_000875.5(IGF1R):c.*5570C>T	noncoding	Benign
15	98963511	G	A	G98963511A	IGF1R	NM_000875.5(IGF1R):c.*6069G>A	noncoding	Benign
15	98963534	G	A	G98963534A	IGF1R	NM_000875.5(IGF1R):c.*6092G>A	noncoding	Benign
15	98963608	G	A	G98963608A	IGF1R	NM_000875.5(IGF1R):c.*6166G>A	noncoding	Benign
15	98963628	G	A	G98963628A	IGF1R	NM_000875.5(IGF1R):c.*6186G>A	noncoding	Benign
15	98963713	C	T	C98963713T	IGF1R	NM_000875.5(IGF1R):c.*6271C>T	noncoding	Benign
15	98963935	C	T	C98963935T	IGF1R	NM_000875.5(IGF1R):c.*6493C>T	noncoding	Benign
15	98964010	A	C	A98964010C	IGF1R	NM_000875.5(IGF1R):c.*6568A>C	noncoding	Benign
15	99105737	C	T	C99105737T	SYNM	NM_145728.3(SYNM):c.538C>T:p.Leu180=	coding	Benign
15	99105808	G	C	G99105808C	SYNM	NM_145728.3(SYNM):c.609G>C:p.Glu203Asp	coding	Benign
15	99106012	C	T	C99106012T	SYNM	NM_145728.3(SYNM):c.810+3C>T	noncoding	Benign
15	99129767	C	T	C99129767T	SYNM	NM_145728.3(SYNM):c.1407C>T:p.Arg469=	coding	Benign
15	99129822	C	T	C99129822T	SYNM	NM_145728.3(SYNM):c.1462C>T:p.Arg488Trp	coding	Benign
15	99130190	G	A	G99130190A	SYNM	NM_145728.3(SYNM):c.1830G>A:p.Glu610=	coding	Benign
15	99130272	G	A	G99130272A	SYNM	NM_145728.3(SYNM):c.1912G>A:p.Val638Ile	coding	Benign
15	99130361	A	G	A99130361G	SYNM	NM_145728.3(SYNM):c.2001A>G:p.Lys667=	coding	Benign
15	99130370	C	T	C99130370T	SYNM	NM_145728.3(SYNM):c.2010C>T:p.Tyr670=	coding	Benign
15	99130556	C	T	C99130556T	SYNM	NM_145728.3(SYNM):c.2196C>T:p.Leu732=	coding	Benign
15	99130599	G	A	G99130599A	SYNM	NM_145728.3(SYNM):c.2239G>A:p.Glu747Lys	coding	Benign
15	99130711	T	C	T99130711C	SYNM	NM_145728.3(SYNM):c.2351T>C:p.Val784Ala	coding	Benign
15	99130961	T	C	T99130961C	SYNM	NM_145728.3(SYNM):c.2601T>C:p.Asp867=	coding	Benign
15	99131372	C	T	C99131372T	SYNM	NM_145728.3(SYNM):c.3012C>T:p.Asn1004=	coding	Benign
15	99131405	C	T	C99131405T	SYNM	NM_145728.3(SYNM):c.3045C>T:p.Asp1015=	coding	Benign
15	99131412	G	T	G99131412T	SYNM	NM_145728.3(SYNM):c.3052G>T:p.Glu1018Ter	coding	Benign
15	99131413	A	T	A99131413T	SYNM	NM_145728.3(SYNM):c.3053A>T:p.Glu1018Val	coding	Benign
15	99131570	C	T	C99131570T	SYNM	NM_145728.3(SYNM):c.3210C>T:p.Thr1070=	coding	Benign
15	99131601	G	A	G99131601A	SYNM	NM_145728.3(SYNM):c.3241G>A:p.Glu1081Lys	coding	Benign
15	99131748	G	A	G99131748A	SYNM	NM_145728.3(SYNM):c.3388G>A:p.Gly1130Ser	coding	Benign
15	99132339	C	T	C99132339T	SYNM	NM_145728.3(SYNM):c.3979C>T:p.His1327Tyr	coding	Benign
15	99132644	G	A	G99132644A	SYNM	NM_145728.3(SYNM):c.4284G>A:p.Val1428=	coding	Benign
15	99132765	G	A	G99132765A	SYNM	NM_145728.3(SYNM):c.4405G>A:p.Val1469Ile	coding	Benign
15	99132814	C	G	C99132814G	SYNM	NM_145728.3(SYNM):c.4454C>G:p.Ser1485Cys	coding	Benign
15	99671621	G	A	G99671621A	MEF2A	NM_005587.4(MEF2A):c.360G>A:p.Glu120=	coding	Benign
15	99690400	C	T	C99690400T	MEF2A	NM_005587.4(MEF2A):c.836C>T:p.Pro279Leu	coding	Pathogenic
15	99690412	G	A	G99690412A	MEF2A	NM_005587.4(MEF2A):c.848G>A:p.Gly283Asp	coding	Pathogenic
15	99706776	C	T	C99706776T	MEF2A	NM_005587.4(MEF2A):c.912C>T:p.Thr304=	coding	Benign
15	99712552	G	A	G99712552A	MEF2A	NM_005587.4(MEF2A):c.1281G>A:p.Pro427=	coding	Benign
15	99712688	A	G	A99712688G	MEF2A	NM_005587.4(MEF2A):c.1417A>G:p.Ile473Val	coding	Benign
15	99971680	C	T	C99971680T	ADAMTS17	NM_139057.4(ADAMTS17):c.*2722G>A	noncoding	Benign
15	99971701	C	G	C99971701G	ADAMTS17	NM_139057.4(ADAMTS17):c.*2701G>C	noncoding	Benign
15	99971824	C	T	C99971824T	ADAMTS17	NM_139057.4(ADAMTS17):c.*2578G>A	noncoding	Benign
15	99971842	A	G	A99971842G	ADAMTS17	NM_139057.4(ADAMTS17):c.*2560T>C	noncoding	Benign
15	99971861	T	C	T99971861C	ADAMTS17	NM_139057.4(ADAMTS17):c.*2541A>G	noncoding	Benign
15	99971874	A	G	A99971874G	ADAMTS17	NM_139057.4(ADAMTS17):c.*2528T>C	noncoding	Benign
15	99971949	G	A	G99971949A	ADAMTS17	NM_139057.4(ADAMTS17):c.*2453C>T	noncoding	Benign
15	99972048	G	A	G99972048A	ADAMTS17	NM_139057.4(ADAMTS17):c.*2354C>T	noncoding	Benign
15	99972050	G	C	G99972050C	ADAMTS17	NM_139057.4(ADAMTS17):c.*2352C>G	noncoding	Benign
15	99972078	C	T	C99972078T	ADAMTS17	NM_139057.4(ADAMTS17):c.*2324G>A	noncoding	Benign
15	99972119	T	C	T99972119C	ADAMTS17	NM_139057.4(ADAMTS17):c.*2283A>G	noncoding	Benign
15	99972175	C	T	C99972175T	ADAMTS17	NM_139057.4(ADAMTS17):c.*2227G>A	noncoding	Benign
15	99972323	G	A	G99972323A	ADAMTS17	NM_139057.4(ADAMTS17):c.*2079C>T	noncoding	Benign
15	99972389	A	C	A99972389C	ADAMTS17	NM_139057.4(ADAMTS17):c.*2013T>G	noncoding	Benign
15	99972390	G	A	G99972390A	ADAMTS17	NM_139057.4(ADAMTS17):c.*2012C>T	noncoding	Benign
15	99972395	C	T	C99972395T	ADAMTS17	NM_139057.4(ADAMTS17):c.*2007G>A	noncoding	Benign
15	99972410	C	T	C99972410T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1992G>A	noncoding	Benign
15	99972458	C	T	C99972458T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1944G>A	noncoding	Benign
15	99972543	G	A	G99972543A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1859C>T	noncoding	Benign
15	99972623	A	G	A99972623G	ADAMTS17	NM_139057.4(ADAMTS17):c.*1779T>C	noncoding	Benign
15	99972628	G	A	G99972628A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1774C>T	noncoding	Benign
15	99972629	C	A	C99972629A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1773G>T	noncoding	Benign
15	99972661	T	A	T99972661A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1741A>T	noncoding	Benign
15	99972673	C	T	C99972673T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1729G>A	noncoding	Benign
15	99972696	C	T	C99972696T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1706G>A	noncoding	Benign
15	99972837	C	G	C99972837G	ADAMTS17	NM_139057.4(ADAMTS17):c.*1565G>C	noncoding	Benign
15	99972912	G	A	G99972912A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1490C>T	noncoding	Benign
15	99972953	C	T	C99972953T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1449G>A	noncoding	Benign
15	99972983	C	T	C99972983T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1419G>A	noncoding	Benign
15	99973113	A	C	A99973113C	ADAMTS17	NM_139057.4(ADAMTS17):c.*1289T>G	noncoding	Benign
15	99973159	G	A	G99973159A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1243C>T	noncoding	Benign
15	99973319	T	C	T99973319C	ADAMTS17	NM_139057.4(ADAMTS17):c.*1083A>G	noncoding	Benign
15	99973324	C	T	C99973324T	ADAMTS17	NM_139057.4(ADAMTS17):c.*1078G>A	noncoding	Benign
15	99973413	C	T	C99973413T	ADAMTS17	NM_139057.4(ADAMTS17):c.*989G>A	noncoding	Benign
15	99973502	A	G	A99973502G	ADAMTS17	NM_139057.4(ADAMTS17):c.*900T>C	noncoding	Benign
15	99973517	T	C	T99973517C	ADAMTS17	NM_139057.4(ADAMTS17):c.*885A>G	noncoding	Benign
15	99973520	C	G	C99973520G	ADAMTS17	NM_139057.4(ADAMTS17):c.*882G>C	noncoding	Benign
15	99973659	C	T	C99973659T	ADAMTS17	NM_139057.4(ADAMTS17):c.*743G>A	noncoding	Benign
15	99973702	C	T	C99973702T	ADAMTS17	NM_139057.4(ADAMTS17):c.*700G>A	noncoding	Benign
15	99973710	C	G	C99973710G	ADAMTS17	NM_139057.4(ADAMTS17):c.*692G>C	noncoding	Benign
15	99973731	G	A	G99973731A	ADAMTS17	NM_139057.4(ADAMTS17):c.*671C>T	noncoding	Benign
15	99973835	C	G	C99973835G	ADAMTS17	NM_139057.4(ADAMTS17):c.*567G>C	noncoding	Benign
15	99973835	C	T	C99973835T	ADAMTS17	NM_139057.4(ADAMTS17):c.*567G>A	noncoding	Benign
15	99973858	C	T	C99973858T	ADAMTS17	NM_139057.4(ADAMTS17):c.*544G>A	noncoding	Benign
15	99973892	G	A	G99973892A	ADAMTS17	NM_139057.4(ADAMTS17):c.*510C>T	noncoding	Benign
15	99973904	T	G	T99973904G	ADAMTS17	NM_139057.4(ADAMTS17):c.*498A>C	noncoding	Benign
15	99973916	C	T	C99973916T	ADAMTS17	NM_139057.4(ADAMTS17):c.*486G>A	noncoding	Benign
15	99973963	C	T	C99973963T	ADAMTS17	NM_139057.4(ADAMTS17):c.*439G>A	noncoding	Benign
15	99973973	T	G	T99973973G	ADAMTS17	NM_139057.4(ADAMTS17):c.*429A>C	noncoding	Benign
15	99973977	G	T	G99973977T	ADAMTS17	NM_139057.4(ADAMTS17):c.*425C>A	noncoding	Benign
15	99974086	A	G	A99974086G	ADAMTS17	NM_139057.4(ADAMTS17):c.*316T>C	noncoding	Benign
15	99974212	C	T	C99974212T	ADAMTS17	NM_139057.4(ADAMTS17):c.*190G>A	noncoding	Benign
15	99974213	C	G	C99974213G	ADAMTS17	NM_139057.4(ADAMTS17):c.*189G>C	noncoding	Benign
15	99974286	A	G	A99974286G	ADAMTS17	NM_139057.4(ADAMTS17):c.*116T>C	noncoding	Benign
15	99974289	T	C	T99974289C	ADAMTS17	NM_139057.4(ADAMTS17):c.*113A>G	noncoding	Benign
15	99974303	T	C	T99974303C	ADAMTS17	NM_139057.4(ADAMTS17):c.*99A>G	noncoding	Benign
15	99974320	C	T	C99974320T	ADAMTS17	NM_139057.4(ADAMTS17):c.*82G>A	noncoding	Benign
15	99974356	G	C	G99974356C	ADAMTS17	NM_139057.4(ADAMTS17):c.*46C>G	noncoding	Benign
15	99974409	T	C	T99974409C	ADAMTS17	NM_139057.4(ADAMTS17):c.3281A>G:p.Asn1094Ser	coding	Benign
15	99974417	T	G	T99974417G	ADAMTS17	NM_139057.4(ADAMTS17):c.3273A>C:p.Pro1091=	coding	Benign
15	99974471	G	A	G99974471A	ADAMTS17	NM_139057.4(ADAMTS17):c.3219C>T:p.Tyr1073=	coding	Benign
15	99974552	G	A	G99974552A	ADAMTS17	NM_139057.4(ADAMTS17):c.3138C>T:p.Thr1046=	coding	Benign
15	99976049	G	T	G99976049T	ADAMTS17	NM_139057.4(ADAMTS17):c.3123C>A:p.Arg1041=	coding	Benign
15	99993096	G	A	G99993096A	ADAMTS17	NM_139057.4(ADAMTS17):c.2901C>T:p.Cys967=	coding	Benign
15	99997451	C	T	C99997451T	ADAMTS17	NM_139057.4(ADAMTS17):c.2730G>A:p.Pro910=	coding	Benign
15	99997481	C	T	C99997481T	ADAMTS17	NM_139057.4(ADAMTS17):c.2700G>A:p.Thr900=	coding	Benign
15	99997574	C	T	C99997574T	ADAMTS17	NM_139057.4(ADAMTS17):c.2607G>A:p.Pro869=	coding	Benign
15	100048843	A	C	A100048843C	ADAMTS17	NM_139057.4(ADAMTS17):c.2591+14T>G	noncoding	Benign
15	100048851	T	C	T100048851C	ADAMTS17	NM_139057.4(ADAMTS17):c.2591+6A>G	noncoding	Benign
15	100048930	C	T	C100048930T	ADAMTS17	NM_139057.4(ADAMTS17):c.2518G>A:p.Asp840Asn	coding	Benign
15	100048949	C	T	C100048949T	ADAMTS17	NM_139057.4(ADAMTS17):c.2499G>A:p.Lys833=	coding	Benign/Likely_benign
15	100048976	G	A	G100048976A	ADAMTS17	NM_139057.4(ADAMTS17):c.2472C>T:p.Ile824=	coding	Benign
15	100054021	C	T	C100054021T	ADAMTS17	NM_139057.4(ADAMTS17):c.2171G>A:p.Ser724Asn	coding	Benign
15	100054066	G	A	G100054066A	ADAMTS17	NM_139057.4(ADAMTS17):c.2138-12C>T	noncoding	Benign
15	100096381	G	A	G100096381A	ADAMTS17	NM_139057.4(ADAMTS17):c.2112C>T:p.Gly704=	coding	Benign
15	100109043	G	A	G100109043A	ADAMTS17	NM_139057.4(ADAMTS17):c.1962C>T:p.Asp654=	coding	Benign
15	100116860	G	A	G100116860A	ADAMTS17	NM_139057.4(ADAMTS17):c.1875C>T:p.Ala625=	coding	Benign
15	100116895	G	A	G100116895A	ADAMTS17	NM_139057.4(ADAMTS17):c.1840C>T:p.Arg614Trp	coding	Benign
15	100116968	A	G	A100116968G	ADAMTS17	NM_139057.4(ADAMTS17):c.1767T>C:p.His589=	coding	Benign/Likely_benign
15	100132006	C	T	C100132006T	ADAMTS17	NM_139057.4(ADAMTS17):c.1721+1G>A	noncoding	Pathogenic
15	100132032	T	G	T100132032G	ADAMTS17	NM_139057.4(ADAMTS17):c.1696A>C:p.Arg566=	coding	Benign
15	100132077	C	T	C100132077T	ADAMTS17	NM_139057.4(ADAMTS17):c.1651G>A:p.Ala551Thr	coding	Benign
15	100152640	A	G	A100152640G	ADAMTS17	NM_139057.4(ADAMTS17):c.1445T>C:p.Met482Thr	coding	Benign
15	100152748	G	A	G100152748A	ADAMTS17	NM_139057.4(ADAMTS17):c.1337C>T:p.Thr446Ile	coding	Benign
15	100254158	C	T	C100254158T	ADAMTS17	NM_139057.4(ADAMTS17):c.1053G>A:p.Lys351=	coding	Benign
15	100261493	G	A	G100261493A	ADAMTS17	NM_139057.4(ADAMTS17):c.1017C>T:p.Ala339=	coding	Benign
15	100262351	C	A	C100262351A	ADAMTS17	NM_139057.4(ADAMTS17):c.873+1G>T	noncoding	Pathogenic
15	100281221	G	A	G100281221A	ADAMTS17	NM_139057.4(ADAMTS17):c.789+8C>T	noncoding	Benign
15	100281258	G	A	G100281258A	ADAMTS17	NM_139057.4(ADAMTS17):c.760C>T:p.Gln254Ter	coding	Pathogenic
15	100281262	G	A	G100281262A	ADAMTS17	NM_139057.4(ADAMTS17):c.756C>T:p.Ala252=	coding	Benign
15	100281371	G	A	G100281371A	ADAMTS17	NM_139057.4(ADAMTS17):c.647C>T:p.Ser216Leu	coding	Benign
15	100330979	G	A	G100330979A	ADAMTS17	NM_139057.4(ADAMTS17):c.526C>T:p.Arg176Ter	coding	Pathogenic
15	100341048	G	C	G100341048C	ADAMTS17	NM_139057.4(ADAMTS17):c.441C>G:p.Ala147=	coding	Benign
15	100341919	C	A	C100341919A	ADAMTS17	NM_139057.4(ADAMTS17):c.-20G>T	noncoding	Benign
15	100402747	C	T	C100402747T	CERS3	NM_001290343.2(CERS3):c.1118G>A:p.Arg373Lys	coding	Benign
15	100455989	G	A	G100455989A	CERS3	NM_001290343.2(CERS3):c.903C>T:p.Tyr301=	coding	Benign
15	100472931	C	T	C100472931T	CERS3	NM_001290343.2(CERS3):c.731G>A:p.Trp244Ter	coding	Pathogenic
15	100472948	G	A	G100472948A	CERS3	NM_001290343.2(CERS3):c.714C>T:p.His238=	coding	Benign
15	100473025	G	A	G100473025A	CERS3	NM_001290343.2(CERS3):c.637C>T:p.Leu213=	coding	Benign
15	100476085	C	A	C100476085A	CERS3	NM_001290343.2(CERS3):c.609+1G>T	noncoding	Pathogenic
15	100479488	G	A	G100479488A	CERS3	NM_001290343.2(CERS3):c.466-10C>T	noncoding	Benign
15	100484630	C	T	C100484630T	CERS3	NM_001290343.2(CERS3):c.327G>A:p.Thr109=	coding	Benign
15	100501807	A	G	A100501807G	CERS3	NM_001290343.2(CERS3):c.43T>C:p.Trp15Arg	coding	Pathogenic
15	100569472	C	A	C100569472A	LINS1	NM_001040616.3(LINS1):c.2040G>T:p.Arg680Ser	coding	Benign
15	100569589	C	G	C100569589G	LINS1	NM_001040616.3(LINS1):c.1923G>C:p.Glu641Asp	coding	Benign
15	100569613	G	A	G100569613A	LINS1	NM_001040616.3(LINS1):c.1899C>T:p.Asp633=	coding	Benign
15	100569625	G	A	G100569625A	LINS1	NM_001040616.3(LINS1):c.1887C>T:p.Tyr629=	coding	Benign/Likely_benign
15	100569688	C	A	C100569688A	LINS1	NM_001040616.3(LINS1):c.1824G>T:p.Gly608=	coding	Benign
15	100569699	T	C	T100569699C	LINS1	NM_001040616.3(LINS1):c.1813A>G:p.Met605Val	coding	Benign/Likely_benign
15	100569891	T	C	T100569891C	LINS1	NM_001040616.3(LINS1):c.1621A>G:p.Ile541Val	coding	Benign
15	100570060	T	A	T100570060A	LINS1	NM_001040616.3(LINS1):c.1452A>T:p.Thr484=	coding	Benign
15	100570097	C	G	C100570097G	LINS1	NM_001040616.3(LINS1):c.1415G>C:p.Ser472Thr	coding	Benign
15	100571986	C	T	C100571986T	LINS1	NM_001040616.3(LINS1):c.1302G>A:p.Pro434=	coding	Benign/Likely_benign
15	100572003	G	A	G100572003A	LINS1	NM_001040616.3(LINS1):c.1285C>T:p.Leu429=	coding	Benign/Likely_benign
15	100573679	T	C	T100573679C	LINS1	NM_001040616.3(LINS1):c.1194A>G:p.Gln398=	coding	Benign/Likely_benign
15	100573695	A	C	A100573695C	LINS1	NM_001040616.3(LINS1):c.1178T>G:p.Leu393Ter	coding	Pathogenic
15	100573745	A	G	A100573745G	LINS1	NM_001040616.3(LINS1):c.1128T>C:p.Ser376=	coding	Benign
15	100573777	C	A	C100573777A	LINS1	NM_001040616.3(LINS1):c.1096G>T:p.Glu366Ter	coding	Pathogenic
15	100573881	G	A	G100573881A	LINS1	NM_001040616.3(LINS1):c.992C>T:p.Ala331Val	coding	Benign
15	100574155	G	A	G100574155A	LINS1	NM_001040616.3(LINS1):c.718C>T:p.Arg240Trp	coding	Benign/Likely_benign
15	100574213	G	A	G100574213A	LINS1	NM_001040616.3(LINS1):c.660C>T:p.Phe220=	coding	Benign
15	100575003	T	C	T100575003C	LINS1	NM_001040616.3(LINS1):c.615A>G:p.Ser205=	coding	Benign/Likely_benign
15	100580758	T	C	T100580758C	LINS1	NM_001040616.3(LINS1):c.85A>G:p.Ile29Val	coding	Benign
15	100629438	T	C	T100629438C	ASB7	NM_198243.3(ASB7):c.213T>C:p.Ala71=	coding	Benign
15	100629606	C	T	C100629606T	ASB7	NM_198243.3(ASB7):c.381C>T:p.Tyr127=	coding	Benign
15	100629924	A	G	A100629924G	ASB7	NM_198243.3(ASB7):c.699A>G:p.Leu233=	coding	Benign
15	100648396	A	G	A100648396G	ASB7	NM_198243.3(ASB7):c.891A>G:p.Leu297=	coding	Benign
15	100879950	A	G	A100879950G	ALDH1A3	NM_000693.4(ALDH1A3):c.43A>G:p.Arg15Gly	coding	Benign/Likely_benign
15	100885376	A	C	A100885376C	ALDH1A3	NM_000693.4(ALDH1A3):c.204+5A>C	noncoding	Benign
15	100885498	T	C	T100885498C	ALDH1A3	NM_000693.4(ALDH1A3):c.204+127T>C	noncoding	Benign
15	100887578	G	A	G100887578A	ALDH1A3	NM_000693.4(ALDH1A3):c.211G>A:p.Val71Met	coding	Pathogenic
15	100887632	C	T	C100887632T	ALDH1A3	NM_000693.4(ALDH1A3):c.265C>T:p.Arg89Cys	coding	Pathogenic
15	100887654	G	A	G100887654A	ALDH1A3	NM_000693.4(ALDH1A3):c.287G>A:p.Arg96His	coding	Pathogenic
15	100887694	G	A	G100887694A	ALDH1A3	NM_000693.4(ALDH1A3):c.327G>A:p.Arg109=	coding	Benign
15	100892640	G	T	G100892640T	ALDH1A3	NM_000693.4(ALDH1A3):c.475+1G>T	coding	Pathogenic
15	100893011	G	A	G100893011A	ALDH1A3	NM_000693.4(ALDH1A3):c.537+5G>A	noncoding	Pathogenic
15	100895974	C	T	C100895974T	ALDH1A3	NM_000693.4(ALDH1A3):c.708C>T:p.Phe236=	coding	Benign
15	100895975	G	A	G100895975A	ALDH1A3	NM_000693.4(ALDH1A3):c.709G>A:p.Gly237Arg	coding	Pathogenic
15	100896102	C	T	C100896102T	ALDH1A3	NM_000693.4(ALDH1A3):c.780+56C>T	noncoding	Benign
15	100896182	T	A	T100896182A	ALDH1A3	NM_000693.4(ALDH1A3):c.780+136T>A	noncoding	Benign
15	100900636	G	T	G100900636T	ALDH1A3	NM_000693.4(ALDH1A3):c.945G>T:p.Thr315=	coding	Benign
15	100905561	C	A	C100905561A	ALDH1A3	NM_000693.4(ALDH1A3):c.1107C>A:p.Ile369=	coding	Benign
15	100905588	G	A	G100905588A	ALDH1A3	NM_000693.4(ALDH1A3):c.1134G>A:p.Lys378=	coding	Benign
15	100905610	A	G	A100905610G	ALDH1A3	NM_000693.4(ALDH1A3):c.1156A>G:p.Met386Val	coding	Benign
15	100905695	G	A	G100905695A	ALDH1A3	NM_000693.4(ALDH1A3):c.1233+8G>A	noncoding	Benign
15	100908366	T	A	T100908366A	ALDH1A3	NM_000693.4(ALDH1A3):c.1392-42T>A	noncoding	Benign
15	100908423	C	T	C100908423T	ALDH1A3	NM_000693.4(ALDH1A3):c.1407C>T:p.Asn469=	coding	Benign
15	100914711	G	C	G100914711C	ALDH1A3	NM_000693.4(ALDH1A3):c.1477G>C:p.Ala493Pro	coding	Pathogenic
15	101010802	C	A	C101010802A	LRRK1	NM_024652.6(LRRK1):c.1246C>A:p.Leu416Met	coding	Benign
15	101012107	G	A	G101012107A	LRRK1	NM_024652.6(LRRK1):c.1381G>A:p.Ala461Thr	coding	Benign
15	101024824	G	A	G101024824A	LRRK1	NM_024652.6(LRRK1):c.2089G>A:p.Val697Ile	coding	Benign
15	101027339	C	T	C101027339T	LRRK1	NM_024652.6(LRRK1):c.2484C>T:p.Asp828=	coding	Benign
15	101029054	G	T	G101029054T	LRRK1	NM_024652.6(LRRK1):c.2785G>T:p.Glu929Ter	coding	Pathogenic
15	101029161	G	A	G101029161A	LRRK1	NM_024652.6(LRRK1):c.2892G>A:p.Thr964=	coding	Benign
15	101051712	C	A	C101051712A	LRRK1	NM_024652.6(LRRK1):c.3441C>A:p.Ala1147=	coding	Benign
15	101053392	C	T	C101053392T	LRRK1	NM_024652.6(LRRK1):c.4026C>T:p.Leu1342=	coding	Benign
15	101065640	A	G	A101065640G	LRRK1	NM_024652.6(LRRK1):c.5203A>G:p.Met1735Val	coding	Benign
15	101065654	C	T	C101065654T	LRRK1	NM_024652.6(LRRK1):c.5217C>T:p.Val1739=	coding	Benign
15	101065940	C	T	C101065940T	LRRK1	NM_024652.6(LRRK1):c.5503C>T:p.Leu1835Phe	coding	Benign
15	101065985	C	T	C101065985T	LRRK1	NM_024652.6(LRRK1):c.5548C>T:p.Arg1850Cys	coding	Benign
15	101177475	G	T	G101177475T	CHSY1	NM_014918.5(CHSY1):c.2322C>A:p.Thr774=	coding	Benign
15	101177709	C	T	C101177709T	CHSY1	NM_014918.5(CHSY1):c.2088G>A:p.Thr696=	coding	Benign/Likely_benign
15	101177892	C	G	C101177892G	CHSY1	NM_014918.5(CHSY1):c.1905G>C:p.Val635=	coding	Benign
15	101177901	G	A	G101177901A	CHSY1	NM_014918.5(CHSY1):c.1896C>T:p.Val632=	coding	Benign
15	101177985	C	T	C101177985T	CHSY1	NM_014918.5(CHSY1):c.1812G>A:p.Val604=	coding	Benign
15	101178072	G	A	G101178072A	CHSY1	NM_014918.5(CHSY1):c.1725C>T:p.Asp575=	coding	Benign
15	101178096	G	A	G101178096A	CHSY1	NM_014918.5(CHSY1):c.1701C>T:p.Leu567=	coding	Benign
15	101178181	G	C	G101178181C	CHSY1	NM_014918.5(CHSY1):c.1616C>G:p.Pro539Arg	coding	Pathogenic
15	101178231	C	T	C101178231T	CHSY1	NM_014918.5(CHSY1):c.1566G>A:p.Ser522=	coding	Benign
15	101178279	A	G	A101178279G	CHSY1	NM_014918.5(CHSY1):c.1518T>C:p.Phe506=	coding	Benign
15	101178324	T	C	T101178324C	CHSY1	NM_014918.5(CHSY1):c.1473A>G:p.Gln491=	coding	Benign
15	101178374	G	A	G101178374A	CHSY1	NM_014918.5(CHSY1):c.1423C>T:p.Gln475Ter	coding	Pathogenic
15	101178472	A	G	A101178472G	CHSY1	NM_014918.5(CHSY1):c.1325T>C:p.Met442Thr	coding	Benign/Likely_benign
15	101178495	G	A	G101178495A	CHSY1	NM_014918.5(CHSY1):c.1302C>T:p.Tyr434=	coding	Benign
15	101178579	G	A	G101178579A	CHSY1	NM_014918.5(CHSY1):c.1218C>T:p.Asp406=	coding	Benign/Likely_benign
15	101178621	G	A	G101178621A	CHSY1	NM_014918.5(CHSY1):c.1176C>T:p.Pro392=	coding	Benign
15	101178745	T	C	T101178745C	CHSY1	NM_014918.5(CHSY1):c.1052A>G:p.Lys351Arg	coding	Benign
15	101235232	C	T	C101235232T	CHSY1	NM_014918.5(CHSY1):c.666G>A:p.Gly222=	coding	Benign/Likely_benign
15	101235364	T	C	T101235364C	CHSY1	NM_014918.5(CHSY1):c.534A>G:p.Gly178=	coding	Benign
15	101235475	G	A	G101235475A	CHSY1	NM_014918.5(CHSY1):c.423C>T:p.Asp141=	coding	Benign
15	101235565	C	T	C101235565T	CHSY1	NM_014918.5(CHSY1):c.333G>A:p.Lys111=	coding	Benign
15	101235580	G	C	G101235580C	CHSY1	NM_014918.5(CHSY1):c.321-3C>G	noncoding	Pathogenic
15	101251154	C	G	C101251154G	CHSY1	NM_014918.5(CHSY1):c.303G>C:p.Arg101=	coding	Benign
15	101251252	G	A	G101251252A	CHSY1	NM_014918.5(CHSY1):c.205C>T:p.Gln69Ter	coding	Pathogenic
15	101251343	G	A	G101251343A	CHSY1	NM_014918.5(CHSY1):c.114C>T:p.Gly38=	coding	Benign
15	101251400	G	A	G101251400A	CHSY1	NM_014918.5(CHSY1):c.57C>T:p.Gly19=	coding	Benign
15	101274445	C	T	C101274445T	SELENOS	NM_018445.6(SELENOS):c.459G>A:p.Ser153=	coding	Benign
15	101274611	C	A	C101274611A	SELENOS	NM_018445.6(SELENOS):c.389G>T:p.Gly130Val	coding	Benign
15	101274640	G	A	G101274640A	SELENOS	NM_018445.6(SELENOS):c.360C>T:p.Asp120=	coding	Benign
15	101318331	C	T	C101318331T	PCSK6	NM_002570.5(PCSK6):c.2557G>A:p.Gly853Arg	coding	Benign
15	101370529	G	C	G101370529C	PCSK6	NM_002570.5(PCSK6):c.1533-6C>G	noncoding	Benign
15	101382116	A	G	A101382116G	PCSK6	NM_002570.5(PCSK6):c.1508T>C:p.Val503Ala	coding	Benign
15	101384371	C	T	C101384371T	PCSK6	NM_002570.5(PCSK6):c.1365G>A:p.Pro455=	coding	Benign
16	59290	G	A	G59290A	RHBDF1	NM_022450.5(RHBDF1):c.1953C>T:p.Asp651=	coding	Benign
16	61956	C	T	C61956T	RHBDF1	NM_022450.5(RHBDF1):c.1050G>A:p.Pro350=	coding	Benign
16	62869	C	T	C62869T	RHBDF1	NM_022450.5(RHBDF1):c.701G>A:p.Arg234His	coding	Benign
16	63650	C	T	C63650T	RHBDF1	NM_022450.5(RHBDF1):c.399G>A:p.Ser133=	coding	Benign
16	64740	C	T	C64740T	RHBDF1	NM_022450.5(RHBDF1):c.207G>A:p.Pro69=	coding	Benign
16	64775	G	A	G64775A	RHBDF1	NM_022450.5(RHBDF1):c.172C>T:p.His58Tyr	coding	Benign
16	64826	G	A	G64826A	RHBDF1	NM_022450.5(RHBDF1):c.121C>T:p.Leu41=	coding	Benign
16	79493	C	T	C79493T	MPG	NM_001015052.3(MPG):c.93C>T:p.Asp31=	coding	Benign
16	79589	G	A	G79589A	MPG	NM_001015052.3(MPG):c.189G>A:p.Pro63=	coding	Benign
16	88756	C	T	C88756T	NPRL3	NM_001077350.3(NPRL3):c.1486G>A:p.Ala496Thr	coding	Benign/Likely_benign
16	89706	G	A	G89706A	NPRL3	NM_001077350.3(NPRL3):c.1351+7C>T	noncoding	Benign
16	89762	G	A	G89762A	NPRL3	NM_001077350.3(NPRL3):c.1302C>T:p.Val434=	coding	Benign
16	89786	G	C	G89786C	NPRL3	NM_001077350.3(NPRL3):c.1278C>G:p.Asp426Glu	coding	Benign
16	89794	G	A	G89794A	NPRL3	NM_001077350.3(NPRL3):c.1270C>T:p.Arg424Ter	coding	Pathogenic
16	89851	G	A	G89851A	NPRL3	NM_001077350.3(NPRL3):c.1213C>T:p.Gln405Ter	coding	Pathogenic
16	89869	G	A	G89869A	NPRL3	NM_001077350.3(NPRL3):c.1195C>T:p.Gln399Ter	coding	Pathogenic
16	92601	G	A	G92601A	NPRL3	NM_001077350.3(NPRL3):c.1156C>T:p.Gln386Ter	coding	Pathogenic
16	92716	C	T	C92716T	NPRL3	NM_001077350.3(NPRL3):c.1041G>A:p.Pro347=	coding	Benign
16	93226	C	A	C93226A	NPRL3	NM_001077350.3(NPRL3):c.1024G>T:p.Val342Leu	coding	Benign
16	93296	G	C	G93296C	NPRL3	NM_001077350.3(NPRL3):c.954C>G:p.Tyr318Ter	coding	Pathogenic
16	93319	G	A	G93319A	NPRL3	NM_001077350.3(NPRL3):c.931C>T:p.Gln311Ter	coding	Pathogenic
16	98138	G	C	G98138C	NPRL3	NM_001077350.3(NPRL3):c.924+7C>G	noncoding	Benign
16	98145	C	G	C98145G	NPRL3	NM_001077350.3(NPRL3):c.924G>C:p.Gln308His	coding	Pathogenic
16	98150	G	A	G98150A	NPRL3	NM_001077350.3(NPRL3):c.919C>T:p.Leu307=	coding	Benign
16	98311	A	C	A98311C	NPRL3	NM_001077350.3(NPRL3):c.768-10T>G	noncoding	Benign
16	100487	G	A	G100487A	NPRL3	NM_001077350.3(NPRL3):c.652C>T:p.Arg218Trp	coding	Benign
16	110516	C	G	C110516G	NPRL3	NM_001077350.3(NPRL3):c.629+9G>C	noncoding	Benign
16	110604	T	G	T110604G	NPRL3	NM_001077350.3(NPRL3):c.550A>C:p.Asn184His	coding	Benign
16	112635	G	A	G112635A	NPRL3	NM_001077350.3(NPRL3):c.534C>T:p.Ser178=	coding	Benign
16	112673	C	A	C112673A	NPRL3	NM_001077350.3(NPRL3):c.496G>T:p.Glu166Ter	coding	Pathogenic
16	112688	G	A	G112688A	NPRL3	NM_001077350.3(NPRL3):c.481C>T:p.Gln161Ter	coding	Pathogenic
16	112722	G	A	G112722A	NPRL3	NM_001077350.3(NPRL3):c.447C>T:p.Ile149=	coding	Benign
16	119118	A	C	A119118C	NPRL3	NM_001077350.3(NPRL3):c.318+8T>G	noncoding	Benign
16	119200	G	A	G119200A	NPRL3	NM_001077350.3(NPRL3):c.244C>T:p.Gln82Ter	coding	Pathogenic
16	119250	G	C	G119250C	NPRL3	NM_001077350.3(NPRL3):c.194C>G:p.Ser65Ter	coding	Pathogenic
16	130530	G	A	G130530A	NPRL3	NM_001077350.3(NPRL3):c.180C>T:p.Gly60=	coding	Benign
16	130572	G	C	G130572C	NPRL3	NM_001077350.3(NPRL3):c.138C>G:p.Tyr46Ter	coding	Pathogenic
16	138174	G	A	G138174A	NPRL3	NM_001077350.3(NPRL3):c.94C>T:p.Gln32Ter	coding	Pathogenic
16	172832	C	A	C172832A	HBA2	NC_000016.10:g.172832C>A	noncoding	Benign
16	172889	C	G	C172889G	HBA2	NM_000517.6(HBA2):c.-24C>G	noncoding	Benign
16	172913	A	G	A172913G	HBA2	NM_000517.6(HBA2):c.1A>G:p.Met1Val	coding	Pathogenic
16	172914	T	C	T172914C	HBA2	NM_000517.6(HBA2):c.2T>C:p.Met1Thr	coding	Pathogenic
16	172987	T	G	T172987G	HBA2	NM_000517.6(HBA2):c.75T>G:p.Tyr25Ter	coding	Pathogenic
16	173001	T	C	T173001C	HBA2	NM_000517.6(HBA2):c.89T>C:p.Leu30Pro	coding	Pathogenic
16	173008	G	A	G173008A	HBA2	NM_000517.6(HBA2):c.95+1G>A	coding	Pathogenic
16	173034	C	T	C173034T	HBA2	NM_000517.6(HBA2):c.95+27C>T	noncoding	Benign/Likely_benign
16	173046	C	T	C173046T	HBA2	NM_000517.6(HBA2):c.95+39C>T	noncoding	Benign
16	173123	A	G	A173123G	HBA2	NM_000517.6(HBA2):c.96-2A>G	noncoding	Pathogenic
16	173128	G	A	G173128A	HBA2;LOC106804612	NM_000517.6(HBA2):c.99G>A:p.Met33Ile	coding	Pathogenic
16	173208	G	A	G173208A	HBA2	NM_000517.6(HBA2):c.179G>A:p.Gly60Asp	coding	Pathogenic
16	173266	C	G	C173266G	HBA2;LOC106804612	NM_000517.6(HBA2):c.237C>G:p.Asn79Lys	coding	Benign
16	173384	T	G	T173384G	HBA2	NM_000517.6(HBA2):c.300+55T>G	noncoding	Benign
16	173484	T	C	T173484C	HBA2	NM_000517.6(HBA2):c.313T>C:p.Cys105Arg	coding	Pathogenic
16	173520	G	T	G173520T	HBA2	NM_000517.6(HBA2):c.349G>T:p.Glu117Ter	coding	Pathogenic
16	173548	T	A	T173548A	HBA2	NM_000517.6(HBA2):c.377T>A:p.Leu126Gln	coding	Pathogenic
16	173548	T	C	T173548C	HBA2	NM_000517.6(HBA2):c.377T>C:p.Leu126Pro	coding	Pathogenic
16	173548	T	G	T173548G	HBA2	NM_000517.6(HBA2):c.377T>G:p.Leu126Arg	coding	Pathogenic
16	173550	G	A	G173550A	HBA2	NM_000517.6(HBA2):c.379G>A:p.Asp127Asn	coding	Pathogenic
16	173550	G	T	G173550T	HBA2	NM_000517.6(HBA2):c.379G>T:p.Asp127Tyr	coding	Pathogenic
16	173581	T	C	T173581C	HBA1;HBA2;LOC106804612	NM_000517.6(HBA2):c.410T>C:p.Leu137Pro	coding	Pathogenic
16	173598	T	A	T173598A	HBA2	NM_000517.4(HBA2):c.427T>A:p.Ter143Lys	coding	Pathogenic
16	173598	T	C	T173598C	HBA2	NM_000517.4(HBA2):c.427T>C:p.Ter143Gln	coding	Pathogenic
16	173598	T	G	T173598G	HBA2	NM_000517.4(HBA2):c.427T>G:p.Ter143Glu	coding	Pathogenic/Likely_pathogenic
16	173599	A	C	A173599C	HBA2	NM_000517.6(HBA2):c.428A>C:p.Ter143Ser	coding	Pathogenic
16	173600	A	T	A173600T	HBA2	NM_000517.4(HBA2):c.429A>T:p.Ter143Tyr	coding	Pathogenic
16	173692	A	G	A173692G	HBA2	NM_000517.6(HBA2):c.*92A>G	noncoding	Pathogenic
16	173694	A	G	A173694G	HBA2	NM_000517.6(HBA2):c.*94A>G	noncoding	Pathogenic
16	173707	A	G	A173707G	HBA2	NM_000517.6(HBA2):c.*107A>G	noncoding	Benign
16	173736	A	G	A173736G	HBA2	NM_000517.6(HBA2):c.*136A>G	noncoding	Benign
16	176675	C	T	C176675T	HBA1	NM_000558.3(HBA1):c.-42C>T	noncoding	Benign/Likely_benign
16	176693	C	G	C176693G	HBA1	NM_000558.5(HBA1):c.-24C>G	noncoding	Benign
16	176718	T	G	T176718G	HBA1	NM_000558.5(HBA1):c.2T>G:p.Met1Arg	coding	Pathogenic
16	176759	T	C	T176759C	HBA1	NM_000558.5(HBA1):c.43T>C:p.Trp15Arg	coding	Pathogenic
16	176761	G	A	G176761A	HBA1;LOC106804613	NM_000558.5(HBA1):c.45G>A:p.Trp15Ter	coding	Pathogenic
16	176850	C	T	C176850T	HBA1	NM_000558.5(HBA1):c.95+39C>T	noncoding	Benign
16	177012	G	A	G177012A	HBA1	NM_000558.3(HBA1):c.179G>A:p.Gly60Asp	coding	Pathogenic
16	177040	C	A	C177040A	HBA1	NM_000558.5(HBA1):c.207C>A:p.Asn69Lys	coding	Pathogenic
16	177188	G	T	G177188T	HBA1;LOC106804613	NM_000558.5(HBA1):c.300+55G>T	noncoding	Benign
16	177340	C	T	C177340T	HBA1	NM_000558.5(HBA1):c.358C>T:p.Pro120Ser	coding	Pathogenic
16	177457	C	A	C177457A	HBA1	NM_000558.5(HBA1):c.*46C>A	noncoding	Benign/Likely_benign
16	177647	G	A	G177647A	-	NC_000016.10:g.177647G>A	noncoding	Benign
16	177694	A	G	A177694G	-	NC_000016.10:g.177694A>G	noncoding	Benign
16	260006	G	A	G260006A	FAM234A	NM_032039.4(FAM234A):c.423G>A:p.Ser141=	coding	Benign
16	261507	G	A	G261507A	FAM234A	NM_032039.4(FAM234A):c.701G>A:p.Arg234Gln	coding	Benign
16	264144	C	G	C264144G	FAM234A	NM_032039.4(FAM234A):c.1317C>G:p.Leu439=	coding	Benign
16	265009	A	G	A265009G	FAM234A	NM_032039.4(FAM234A):c.1646A>G:p.Gln549Arg	coding	Benign
16	281777	G	A	G281777A	ARHGDIG	NM_001176.4(ARHGDIG):c.105G>A:p.Pro35=	coding	Benign
16	285185	G	A	G285185A	PDIA2	NM_006849.4(PDIA2):c.780G>A:p.Thr260=	coding	Benign
16	286909	G	A	G286909A	PDIA2	NM_006849.4(PDIA2):c.1497G>A:p.Thr499=	coding	Benign
16	288146	G	A	G288146A	AXIN1	NM_003502.4(AXIN1):c.2565C>T:p.Ile855=	coding	Benign
16	288189	C	T	C288189T	AXIN1	NM_003502.4(AXIN1):c.2522G>A:p.Arg841Gln	coding	Benign
16	289493	G	A	G289493A	AXIN1	NM_003502.4(AXIN1):c.2409C>T:p.Arg803=	coding	Benign
16	289499	C	T	C289499T	AXIN1	NM_003502.4(AXIN1):c.2403G>A:p.Arg801=	coding	Benign
16	293481	G	A	G293481A	AXIN1	NM_003502.4(AXIN1):c.2186+7C>T	noncoding	Benign/Likely_benign
16	293691	G	A	G293691A	AXIN1	NM_003502.4(AXIN1):c.1983C>T:p.Pro661=	coding	Benign
16	297829	C	T	C297829T	AXIN1	NM_003502.4(AXIN1):c.1677G>A:p.Gln559=	coding	Benign
16	297850	G	A	G297850A	AXIN1	NM_003502.4(AXIN1):c.1656C>T:p.Ala552=	coding	Benign
16	297928	C	T	C297928T	AXIN1	NM_003502.4(AXIN1):c.1578G>A:p.Ala526=	coding	Benign
16	297929	G	A	G297929A	AXIN1	NM_003502.4(AXIN1):c.1577C>T:p.Ala526Val	coding	Benign
16	297973	C	T	C297973T	AXIN1	NM_003502.4(AXIN1):c.1533G>A:p.Ser511=	coding	Benign
16	298021	G	C	G298021C	AXIN1	NM_003502.4(AXIN1):c.1485C>G:p.Asp495Glu	coding	Benign
16	346264	A	G	A346264G	AXIN1	NM_003502.4(AXIN1):c.762T>C:p.Asp254=	coding	Benign
16	369086	G	C	G369086C	MRPL28	NM_006428.5(MRPL28):c.423C>G:p.Leu141=	coding	Benign
16	399399	C	T	C399399T	NME4	NM_005009.3(NME4):c.246C>T:p.Ala82=	coding	Benign
16	426561	G	C	G426561C	RAB11FIP3	NM_014700.4(RAB11FIP3):c.555G>C:p.Ser185=	coding	Benign
16	482705	G	A	G482705A	RAB11FIP3	NM_014700.4(RAB11FIP3):c.1084G>A:p.Asp362Asn	coding	Benign
16	488893	C	T	C488893T	RAB11FIP3	NM_014700.4(RAB11FIP3):c.1158C>T:p.Gly386=	coding	Benign
16	488938	G	A	G488938A	RAB11FIP3	NM_014700.4(RAB11FIP3):c.1203G>A:p.Leu401=	coding	Benign
16	548989	G	A	G548989A	CAPN15	NM_005632.3(CAPN15):c.1450-4G>A	noncoding	Benign
16	552502	G	T	G552502T	CAPN15	NM_005632.3(CAPN15):c.2709G>T:p.Pro903=	coding	Benign
16	552511	G	C	G552511C	CAPN15	NM_005632.3(CAPN15):c.2718G>C:p.Pro906=	coding	Benign
16	574101	G	A	G574101A	PIGQ	NM_004204.4(PIGQ):c.27G>A:p.Thr9=	coding	Benign
16	574108	G	A	G574108A	PIGQ	NM_004204.4(PIGQ):c.34G>A:p.Val12Ile	coding	Benign
16	574149	G	A	G574149A	PIGQ	NM_004204.4(PIGQ):c.75G>A:p.Pro25=	coding	Benign
16	574396	G	A	G574396A	PIGQ	NM_004204.4(PIGQ):c.322G>A:p.Glu108Lys	coding	Benign
16	574693	C	T	C574693T	PIGQ	NM_004204.4(PIGQ):c.619C>T:p.Arg207Ter	coding	Pathogenic/Likely_pathogenic
16	574694	G	A	G574694A	PIGQ	NM_004204.4(PIGQ):c.620G>A:p.Arg207Gln	coding	Benign
16	575837	A	G	A575837G	PIGQ	NM_148920.3(PIGQ):c.690-2A>G	noncoding	Pathogenic
16	575959	C	T	C575959T	PIGQ	NM_004204.4(PIGQ):c.810C>T:p.Ala270=	coding	Benign
16	576161	G	T	G576161T	PIGQ	NM_004204.4(PIGQ):c.849G>T:p.Leu283=	coding	Benign
16	576227	G	C	G576227C	PIGQ	NM_004204.4(PIGQ):c.915G>C:p.Leu305=	coding	Benign
16	582284	G	A	G582284A	PIGQ	NM_004204.4(PIGQ):c.1568G>A:p.Gly523Asp	coding	Benign
16	582906	C	T	C582906T	PIGQ	NM_004204.4(PIGQ):c.1617C>T:p.Arg539=	coding	Benign
16	625985	G	A	G625985A	RAB40C	NM_021168.5(RAB40C):c.429G>A:p.Ala143=	coding	Benign
16	652524	G	A	G652524A	WDR90	NM_145294.5(WDR90):c.1111G>A:p.Gly371Ser	coding	Benign
16	661592	C	G	C661592G	WDR90	NM_145294.5(WDR90):c.3674-5C>G	noncoding	Benign
16	662043	G	A	G662043A	WDR90	NM_145294.5(WDR90):c.4017G>A:p.Ala1339=	coding	Benign
16	670683	C	T	C670683T	RHOT2	NM_138769.3(RHOT2):c.549C>T:p.Pro183=	coding	Benign
16	671186	G	A	G671186A	RHOT2	NM_138769.3(RHOT2):c.852G>A:p.Ala284=	coding	Benign
16	671195	C	A	C671195A	RHOT2	NM_138769.3(RHOT2):c.861C>A:p.Leu287=	coding	Benign
16	672123	C	T	C672123T	RHOT2	NM_138769.3(RHOT2):c.1137C>T:p.His379=	coding	Benign
16	672997	G	A	G672997A	RHOT2	NM_138769.3(RHOT2):c.1597G>A:p.Ala533Thr	coding	Benign
16	673017	G	A	G673017A	RHOT2	NM_138769.3(RHOT2):c.1617G>A:p.Pro539=	coding	Benign
16	681186	A	G	A681186G	STUB1	NM_005861.4(STUB1):c.194A>G:p.Asn65Ser	coding	Pathogenic
16	681227	G	A	G681227A	STUB1	NM_005861.4(STUB1):c.235G>A:p.Ala79Thr	coding	Pathogenic
16	681228	C	A	C681228A	STUB1	NM_005861.4(STUB1):c.236C>A:p.Ala79Asp	coding	Pathogenic
16	681446	C	G	C681446G	STUB1	NM_005861.4(STUB1):c.367C>G:p.Leu123Val	coding	Pathogenic
16	681468	A	T	A681468T	STUB1	NM_005861.4(STUB1):c.389A>T:p.Asn130Ile	coding	Pathogenic
16	681520	G	T	G681520T	STUB1	NM_005861.4(STUB1):c.441G>T:p.Trp147Cys	coding	Pathogenic
16	681572	C	T	C681572T	STUB1	NM_005861.4(STUB1):c.493C>T:p.Leu165Phe	coding	Pathogenic
16	682049	T	C	T682049C	STUB1	NM_005861.4(STUB1):c.642T>C:p.Leu214=	coding	Benign
16	682214	T	C	T682214C	STUB1	NM_005861.4(STUB1):c.719T>C:p.Met240Thr	coding	Pathogenic
16	682232	C	T	C682232T	STUB1	NM_005861.4(STUB1):c.737C>T:p.Thr246Met	coding	Pathogenic
16	722985	C	T	C722985T	CCDC78	NM_001031737.3(CCDC78):c.1234G>A:p.Gly412Arg	coding	Benign/Likely_benign
16	723170	G	A	G723170A	CCDC78	NM_001031737.3(CCDC78):c.1134-9C>T	noncoding	Benign/Likely_benign
16	723892	G	A	G723892A	CCDC78	NM_001031737.3(CCDC78):c.1098C>T:p.Pro366=	coding	Benign
16	724312	C	T	C724312T	CCDC78	NM_001031737.3(CCDC78):c.953+10G>A	noncoding	Benign/Likely_benign
16	724338	G	A	G724338A	CCDC78	NM_001031737.3(CCDC78):c.937C>T:p.Leu313=	coding	Benign
16	724386	G	A	G724386A	CCDC78	NM_001031737.3(CCDC78):c.889C>T:p.Arg297Cys	coding	Benign
16	724472	G	A	G724472A	CCDC78	NM_001031737.3(CCDC78):c.803C>T:p.Thr268Met	coding	Benign
16	724494	C	T	C724494T	CCDC78	NM_001031737.3(CCDC78):c.781G>A:p.Ala261Thr	coding	Benign
16	724518	G	A	G724518A	CCDC78	NM_001031737.3(CCDC78):c.766-9C>T	noncoding	Benign
16	724520	C	T	C724520T	CCDC78	NM_001031737.3(CCDC78):c.766-11G>A	noncoding	Benign
16	724692	A	G	A724692G	CCDC78	NM_001031737.3(CCDC78):c.754T>C:p.Trp252Arg	coding	Benign
16	724734	T	G	T724734G	CCDC78	NM_001031737.3(CCDC78):c.712A>C:p.Lys238Gln	coding	Benign
16	725089	C	T	C725089T	CCDC78	NM_001031737.3(CCDC78):c.549G>A:p.Leu183=	coding	Benign
16	725239	C	T	C725239T	CCDC78	NM_001031737.3(CCDC78):c.490G>A:p.Gly164Ser	coding	Benign
16	725947	G	C	G725947C	CCDC78	NM_001031737.3(CCDC78):c.180+19C>G	noncoding	Benign
16	725954	C	A	C725954A	CCDC78	NM_001031737.3(CCDC78):c.180+12G>T	noncoding	Benign
16	725955	C	A	C725955A	CCDC78	NM_001031737.3(CCDC78):c.180+11G>T	noncoding	Benign
16	726086	C	T	C726086T	CCDC78	NM_001031737.3(CCDC78):c.61-1G>A	coding	Pathogenic
16	726308	A	G	A726308G	CCDC78	NM_001031737.3(CCDC78):c.60T>C:p.Asn20=	coding	Benign/Likely_benign
16	730510	C	T	C730510T	CIAO3	NM_022493.3(CIAO3):c.1338G>A:p.Leu446=	coding	Benign
16	730664	G	A	G730664A	CIAO3	NM_022493.3(CIAO3):c.1193-9C>T	noncoding	Benign
16	739693	C	T	C739693T	CIAO3	NM_022493.3(CIAO3):c.112G>A:p.Val38Met	coding	Benign
16	764649	G	T	G764649T	MSLN	NM_005823.6(MSLN):c.303G>T:p.Leu101=	coding	Benign
16	765202	C	T	C765202T	MSLN	NM_005823.6(MSLN):c.603C>T:p.Ala201=	coding	Benign
16	765593	G	C	G765593C	MSLN	NM_005823.6(MSLN):c.771G>C:p.Gln257His	coding	Benign
16	765751	C	A	C765751A	MSLN	NM_005823.6(MSLN):c.856C>A:p.Arg286=	coding	Benign
16	766089	G	A	G766089A	MSLN	NM_005823.6(MSLN):c.926G>A:p.Arg309His	coding	Benign
16	766149	C	T	C766149T	MSLN	NM_005823.6(MSLN):c.986C>T:p.Ala329Val	coding	Benign
16	766973	A	G	A766973G	MSLN	NM_005823.6(MSLN):c.1462A>G:p.Asn488Asp	coding	Benign
16	768452	G	A	G768452A	MSLN	NM_005823.6(MSLN):c.1670G>A:p.Arg557His	coding	Benign
16	768698	G	A	G768698A	MSLN	NM_005823.6(MSLN):c.1834G>A:p.Val612Ile	coding	Benign
16	789646	C	T	C789646T	CHTF18	NM_022092.3(CHTF18):c.537C>T:p.His179=	coding	Benign
16	790267	G	A	G790267A	CHTF18	NM_022092.3(CHTF18):c.697G>A:p.Glu233Lys	coding	Benign
16	790532	T	C	T790532C	CHTF18	NM_022092.3(CHTF18):c.760T>C:p.Ser254Pro	coding	Benign
16	790624	T	A	T790624A	CHTF18	NM_022092.3(CHTF18):c.852T>A:p.Asp284Glu	coding	Benign
16	791238	G	A	G791238A	CHTF18	NM_022092.3(CHTF18):c.972G>A:p.Lys324=	coding	Benign
16	793016	C	A	C793016A	CHTF18	NM_022092.3(CHTF18):c.1623C>A:p.Leu541=	coding	Benign
16	795278	C	T	C795278T	CHTF18	NM_022092.3(CHTF18):c.2097C>T:p.Pro699=	coding	Benign
16	796012	C	T	C796012T	CHTF18	NM_022092.3(CHTF18):c.2391C>T:p.Leu797=	coding	Benign
16	796031	C	T	C796031T	CHTF18	NM_022092.3(CHTF18):c.2410C>T:p.Arg804Cys	coding	Benign
16	796720	C	T	C796720T	CHTF18	NM_022092.3(CHTF18):c.2460C>T:p.Asn820=	coding	Benign
16	797835	G	A	G797835A	CHTF18	NM_022092.3(CHTF18):c.2792-4G>A	noncoding	Benign
16	854628	C	A	C854628A	LMF1	NM_022773.4(LMF1):c.1608G>T:p.Val536=	coding	Benign
16	854643	C	G	C854643G	LMF1	NM_022773.4(LMF1):c.1593G>C:p.Glu531Asp	coding	Benign
16	854668	C	T	C854668T	LMF1	NM_022773.4(LMF1):c.1568G>A:p.Arg523His	coding	Benign
16	854715	G	A	G854715A	LMF1	NM_022773.4(LMF1):c.1530-9C>T	noncoding	Benign
16	868997	G	A	G868997A	LMF1	NM_022773.4(LMF1):c.1476C>T:p.Ala492=	coding	Benign
16	869000	G	A	G869000A	LMF1	NM_022773.4(LMF1):c.1473C>T:p.Asp491=	coding	Benign
16	869908	C	T	C869908T	LMF1	NM_022773.4(LMF1):c.1391G>A:p.Trp464Ter	coding	Pathogenic
16	869937	G	A	G869937A	LMF1	NM_022773.4(LMF1):c.1362C>T:p.Leu454=	coding	Benign
16	869948	G	A	G869948A	LMF1	NM_022773.4(LMF1):c.1351C>T:p.Arg451Trp	coding	Benign
16	869982	G	C	G869982C	LMF1	NM_022773.4(LMF1):c.1317C>G:p.Tyr439Ter	coding	Pathogenic
16	870007	G	T	G870007T	LMF1	NM_022773.4(LMF1):c.1292C>A:p.Ala431Asp	coding	Benign
16	870071	C	T	C870071T	LMF1	NM_022773.4(LMF1):c.1233-5G>A	noncoding	Benign
16	870720	G	C	G870720C	LMF1	NM_022773.4(LMF1):c.1232+9C>G	noncoding	Benign
16	870841	G	A	G870841A	LMF1	NM_022773.4(LMF1):c.1120C>T:p.Leu374=	coding	Benign
16	870870	C	T	C870870T	LMF1	NM_022773.4(LMF1):c.1091G>A:p.Arg364Gln	coding	Benign
16	871153	C	T	C871153T	LMF1	NM_022773.4(LMF1):c.1078+8G>A	noncoding	Benign
16	871179	G	A	G871179A	LMF1	NM_022773.4(LMF1):c.1060C>T:p.Arg354Trp	coding	Benign
16	871187	C	T	C871187T	LMF1	NM_022773.4(LMF1):c.1052G>A:p.Arg351Gln	coding	Benign
16	879630	G	T	G879630T	LMF1	NM_022773.4(LMF1):c.837C>A:p.Phe279Leu	coding	Benign
16	893047	C	T	C893047T	LMF1	NM_022773.4(LMF1):c.689G>A:p.Arg230Gln	coding	Benign
16	954369	A	G	A954369G	LMF1	NM_022773.4(LMF1):c.491T>C:p.Val164Ala	coding	Benign
16	954476	C	G	C954476G	LMF1	NM_022773.4(LMF1):c.384G>C:p.Leu128Phe	coding	Benign
16	954558	C	G	C954558G	LMF1	NM_022773.4(LMF1):c.302G>C:p.Arg101Thr	coding	Benign
16	954569	G	C	G954569C	LMF1	NM_022773.4(LMF1):c.291C>G:p.Tyr97Ter	coding	Pathogenic
16	954626	G	C	G954626C	LMF1	NM_022773.4(LMF1):c.234C>G:p.Leu78=	coding	Benign
16	970864	G	T	G970864T	LMF1	NM_022773.4(LMF1):c.117C>A:p.Gly39=	coding	Benign
16	970886	G	A	G970886A	LMF1	NM_022773.4(LMF1):c.95C>T:p.Ala32Val	coding	Benign
16	981964	C	T	C981964T	SOX8	NM_014587.5(SOX8):c.42C>T:p.Ser14=	coding	Benign
16	984756	G	A	G984756A	SOX8	NM_014587.5(SOX8):c.711G>A:p.Gln237=	coding	Benign
16	984846	G	A	G984846A	SOX8	NM_014587.5(SOX8):c.801G>A:p.Ser267=	coding	Benign
16	985248	C	T	C985248T	SOX8	NM_014587.5(SOX8):c.1203C>T:p.Gly401=	coding	Benign
16	1078901	C	T	C1078901T	SSTR5	NM_001172560.1(SSTR5):c.33C>T:p.Ser11=	coding	Benign
16	1079189	C	T	C1079189T	SSTR5	NM_001172560.1(SSTR5):c.321C>T:p.Phe107=	coding	Benign
16	1079270	C	T	C1079270T	SSTR5	NM_001172560.1(SSTR5):c.402C>T:p.Ser134=	coding	Benign
16	1079309	G	A	G1079309A	SSTR5	NM_001172560.1(SSTR5):c.441G>A:p.Ser147=	coding	Benign
16	1079351	C	T	C1079351T	SSTR5	NM_001172560.1(SSTR5):c.483C>T:p.Ala161=	coding	Benign
16	1079381	G	A	G1079381A	SSTR5	NM_001172560.1(SSTR5):c.513G>A:p.Ser171=	coding	Benign
16	1079525	G	A	G1079525A	SSTR5	NM_001172560.1(SSTR5):c.657G>A:p.Leu219=	coding	Benign
16	1079561	G	A	G1079561A	SSTR5	NM_001172560.1(SSTR5):c.693G>A:p.Ala231=	coding	Benign
16	1079586	C	T	C1079586T	SSTR5	NM_001172560.1(SSTR5):c.718C>T:p.Arg240Trp	coding	Benign
16	1079866	C	T	C1079866T	SSTR5	NM_001172560.1(SSTR5):c.998C>T:p.Thr333Met	coding	Benign
16	1153830	G	A	G1153830A	CACNA1H	NM_021098.3(CACNA1H):c.93G>A:p.Glu31=	coding	Benign
16	1153914	C	T	C1153914T	CACNA1H	NM_021098.3(CACNA1H):c.177C>T:p.Gly59=	coding	Benign
16	1153977	C	T	C1153977T	CACNA1H	NM_021098.3(CACNA1H):c.240C>T:p.Phe80=	coding	Benign
16	1154007	C	G	C1154007G	CACNA1H	NM_021098.3(CACNA1H):c.270C>G:p.Arg90=	coding	Benign
16	1194964	G	A	G1194964A	CACNA1H	NM_021098.3(CACNA1H):c.300-8G>A	noncoding	Benign
16	1195057	G	A	G1195057A	CACNA1H	NM_021098.3(CACNA1H):c.385G>A:p.Gly129Ser	coding	Benign/Likely_benign
16	1195062	C	T	C1195062T	CACNA1H	NM_021098.3(CACNA1H):c.390C>T:p.Ser130=	coding	Benign
16	1195509	G	C	G1195509C	CACNA1H	NM_021098.3(CACNA1H):c.489G>C:p.Gln163His	coding	Benign
16	1195518	C	T	C1195518T	CACNA1H	NM_021098.3(CACNA1H):c.498C>T:p.Tyr166=	coding	Benign
16	1195563	G	A	G1195563A	CACNA1H	NM_021098.3(CACNA1H):c.543G>A:p.Ala181=	coding	Benign
16	1195916	C	T	C1195916T	CACNA1H	NM_021098.3(CACNA1H):c.546-10C>T	noncoding	Benign
16	1200271	C	T	C1200271T	CACNA1H	NM_021098.3(CACNA1H):c.819C>T:p.Thr273=	coding	Benign
16	1200279	G	A	G1200279A	CACNA1H	NM_021098.3(CACNA1H):c.827G>A:p.Arg276Gln	coding	Benign
16	1200340	C	T	C1200340T	CACNA1H	NM_021098.3(CACNA1H):c.888C>T:p.Asp296=	coding	Benign
16	1200370	C	T	C1200370T	CACNA1H	NM_021098.3(CACNA1H):c.918C>T:p.Pro306=	coding	Benign
16	1200389	A	G	A1200389G	CACNA1H	NM_021098.3(CACNA1H):c.937A>G:p.Met313Val	coding	Benign
16	1200445	C	A	C1200445A	CACNA1H	NM_021098.3(CACNA1H):c.993C>A:p.Gly331=	coding	Benign
16	1200446	G	A	G1200446A	CACNA1H	NM_021098.3(CACNA1H):c.994G>A:p.Ala332Thr	coding	Benign
16	1200451	A	G	A1200451G	CACNA1H	NM_021098.3(CACNA1H):c.999A>G:p.Ala333=	coding	Benign
16	1200511	C	T	C1200511T	CACNA1H	NM_021098.3(CACNA1H):c.1059C>T:p.Asn353=	coding	Benign
16	1200559	T	C	T1200559C	CACNA1H	NM_021098.3(CACNA1H):c.1107T>C:p.Ile369=	coding	Benign
16	1200708	C	T	C1200708T	CACNA1H	NM_021098.3(CACNA1H):c.1120-8C>T	noncoding	Benign
16	1200785	A	G	A1200785G	CACNA1H	NM_021098.3(CACNA1H):c.1189A>G:p.Ile397Val	coding	Benign
16	1201656	G	A	G1201656A	CACNA1H	NM_021098.3(CACNA1H):c.1213-7G>A	noncoding	Benign
16	1201668	C	T	C1201668T	CACNA1H	NM_021098.3(CACNA1H):c.1218C>T:p.Gly406=	coding	Benign
16	1201686	C	T	C1201686T	CACNA1H	NM_021098.3(CACNA1H):c.1236C>T:p.Asn412=	coding	Benign
16	1201803	C	T	C1201803T	CACNA1H	NM_021098.3(CACNA1H):c.1353C>T:p.Ser451=	coding	Benign
16	1201809	T	C	T1201809C	CACNA1H	NM_021098.3(CACNA1H):c.1359T>C:p.Pro453=	coding	Benign
16	1201821	C	T	C1201821T	CACNA1H	NM_021098.3(CACNA1H):c.1371C>T:p.Tyr457=	coding	Benign
16	1201831	C	T	C1201831T	CACNA1H	NM_021098.3(CACNA1H):c.1381C>T:p.Leu461=	coding	Benign
16	1201929	T	C	T1201929C	CACNA1H	NM_021098.3(CACNA1H):c.1479T>C:p.Ser493=	coding	Benign
16	1201963	C	T	C1201963T	CACNA1H	NM_021098.3(CACNA1H):c.1513C>T:p.Arg505Cys	coding	Benign
16	1201993	C	T	C1201993T	CACNA1H	NM_021098.3(CACNA1H):c.1543C>T:p.His515Tyr	coding	Benign
16	1202114	C	T	C1202114T	CACNA1H	NM_021098.3(CACNA1H):c.1664C>T:p.Ala555Val	coding	Benign
16	1202118	C	T	C1202118T	CACNA1H	NM_021098.3(CACNA1H):c.1668C>T:p.Pro556=	coding	Benign
16	1202134	C	G	C1202134G	CACNA1H	NM_021098.3(CACNA1H):c.1684C>G:p.Pro562Ala	coding	Benign
16	1202152	G	A	G1202152A	CACNA1H	NM_021098.3(CACNA1H):c.1702G>A:p.Asp568Asn	coding	Benign
16	1202185	G	A	G1202185A	CACNA1H	NM_021098.3(CACNA1H):c.1735G>A:p.Asp579Asn	coding	Benign
16	1202259	A	G	A1202259G	CACNA1H	NM_021098.3(CACNA1H):c.1809A>G:p.Arg603=	coding	Benign
16	1202274	G	A	G1202274A	CACNA1H	NM_021098.3(CACNA1H):c.1824G>A:p.Leu608=	coding	Benign
16	1202369	C	T	C1202369T	CACNA1H	NM_021098.3(CACNA1H):c.1919C>T:p.Pro640Leu	coding	Benign
16	1202416	C	T	C1202416T	CACNA1H	NM_021098.3(CACNA1H):c.1966C>T:p.Pro656Ser	coding	Benign
16	1202441	T	C	T1202441C	CACNA1H	NM_021098.3(CACNA1H):c.1991T>C:p.Val664Ala	coding	Benign
16	1204037	C	T	C1204037T	CACNA1H	NM_021098.3(CACNA1H):c.2030C>T:p.Ser677Leu	coding	Benign
16	1204064	C	T	C1204064T	CACNA1H	NM_021098.3(CACNA1H):c.2057C>T:p.Pro686Leu	coding	Benign/Likely_benign
16	1204152	C	T	C1204152T	CACNA1H	NM_021098.3(CACNA1H):c.2145C>T:p.Ser715=	coding	Benign
16	1204158	G	A	G1204158A	CACNA1H	NM_021098.3(CACNA1H):c.2151G>A:p.Ser717=	coding	Benign/Likely_benign
16	1204160	A	C	A1204160C	CACNA1H	NM_021098.3(CACNA1H):c.2153A>C:p.Glu718Ala	coding	Benign
16	1204223	G	A	G1204223A	CACNA1H	NM_021098.3(CACNA1H):c.2216G>A:p.Arg739His	coding	Benign
16	1204236	G	A	G1204236A	CACNA1H	NM_021098.3(CACNA1H):c.2229G>A:p.Thr743=	coding	Benign
16	1204272	C	T	C1204272T	CACNA1H	NM_021098.3(CACNA1H):c.2265C>T:p.Gly755=	coding	Benign
16	1204317	C	T	C1204317T	CACNA1H	NM_021098.3(CACNA1H):c.2310C>T:p.Gly770=	coding	Benign
16	1204361	A	T	A1204361T	CACNA1H	NM_021098.3(CACNA1H):c.2354A>T:p.Lys785Met	coding	Benign
16	1204369	C	T	C1204369T	CACNA1H	NM_021098.3(CACNA1H):c.2362C>T:p.Arg788Cys	coding	Benign
16	1205173	C	T	C1205173T	CACNA1H	NM_021098.3(CACNA1H):c.2511C>T:p.Ala837=	coding	Benign
16	1205206	C	A	C1205206A	CACNA1H	NM_021098.3(CACNA1H):c.2544C>A:p.Gly848=	coding	Benign
16	1205206	C	T	C1205206T	CACNA1H	NM_021098.3(CACNA1H):c.2544C>T:p.Gly848=	coding	Benign
16	1205208	C	T	C1205208T	CACNA1H	NM_021098.3(CACNA1H):c.2546C>T:p.Pro849Leu	coding	Benign
16	1205245	C	T	C1205245T	CACNA1H	NM_021098.3(CACNA1H):c.2583C>T:p.Asp861=	coding	Benign
16	1205277	C	T	C1205277T	CACNA1H	NM_021098.3(CACNA1H):c.2603+12C>T	noncoding	Benign
16	1206099	C	T	C1206099T	CACNA1H	NM_021098.3(CACNA1H):c.2604-5C>T	noncoding	Benign
16	1206122	G	T	G1206122T	CACNA1H	NM_021098.3(CACNA1H):c.2622G>T:p.Gly874=	coding	Benign
16	1206126	G	A	G1206126A	CACNA1H	NM_021098.3(CACNA1H):c.2626G>A:p.Ala876Thr	coding	Benign
16	1206131	C	T	C1206131T	CACNA1H	NM_021098.3(CACNA1H):c.2631C>T:p.Asp877=	coding	Benign
16	1206259	C	T	C1206259T	CACNA1H	NM_021098.3(CACNA1H):c.2759C>T:p.Thr920Met	coding	Benign/Likely_benign
16	1207092	C	T	C1207092T	CACNA1H	NM_021098.3(CACNA1H):c.2881C>T:p.Leu961=	coding	Benign
16	1207127	C	T	C1207127T	CACNA1H	NM_021098.3(CACNA1H):c.2907+9C>T	noncoding	Benign
16	1207334	C	T	C1207334T	CACNA1H	NM_021098.3(CACNA1H):c.2967C>T:p.Ser989=	coding	Benign
16	1207427	G	A	G1207427A	CACNA1H	NM_021098.3(CACNA1H):c.3060G>A:p.Ala1020=	coding	Benign
16	1207821	G	A	G1207821A	CACNA1H	NM_021098.3(CACNA1H):c.3115G>A:p.Glu1039Lys	coding	Benign
16	1207841	C	G	C1207841G	CACNA1H	NM_021098.3(CACNA1H):c.3135C>G:p.Leu1045=	coding	Benign
16	1208033	G	T	G1208033T	CACNA1H	NM_021098.3(CACNA1H):c.3175G>T:p.Ala1059Ser	coding	Benign/Likely_benign
16	1208047	C	T	C1208047T	CACNA1H	NM_021098.3(CACNA1H):c.3189C>T:p.Asn1063=	coding	Benign
16	1208064	G	A	G1208064A	CACNA1H	NM_021098.3(CACNA1H):c.3206G>A:p.Arg1069Gln	coding	Benign/Likely_benign
16	1208119	C	A	C1208119A	CACNA1H	NM_021098.3(CACNA1H):c.3261C>A:p.Thr1087=	coding	Benign
16	1208134	A	T	A1208134T	CACNA1H	NM_021098.3(CACNA1H):c.3276A>T:p.Pro1092=	coding	Benign
16	1208158	C	T	C1208158T	CACNA1H	NM_021098.3(CACNA1H):c.3300C>T:p.Leu1100=	coding	Benign
16	1208189	G	A	G1208189A	CACNA1H	NM_021098.3(CACNA1H):c.3331G>A:p.Gly1111Arg	coding	Benign
16	1209029	C	T	C1209029T	CACNA1H	NM_021098.3(CACNA1H):c.3364-3C>T	noncoding	Benign/Likely_benign
16	1209107	A	G	A1209107G	CACNA1H	NM_021098.3(CACNA1H):c.3439A>G:p.Ser1147Gly	coding	Benign
16	1209241	C	T	C1209241T	CACNA1H	NM_021098.3(CACNA1H):c.3573C>T:p.Thr1191=	coding	Benign
16	1209290	G	A	G1209290A	CACNA1H	NM_021098.3(CACNA1H):c.3622G>A:p.Ala1208Thr	coding	Benign
16	1209337	C	T	C1209337T	CACNA1H	NM_021098.3(CACNA1H):c.3669C>T:p.Ala1223=	coding	Benign
16	1209406	G	A	G1209406A	CACNA1H	NM_021098.3(CACNA1H):c.3738G>A:p.Ser1246=	coding	Benign
16	1210082	G	T	G1210082T	CACNA1H	NM_021098.3(CACNA1H):c.3792G>T:p.Gln1264His	coding	Benign
16	1210143	G	A	G1210143A	CACNA1H	NM_021098.3(CACNA1H):c.3845+8G>A	noncoding	Benign
16	1210360	G	A	G1210360A	CACNA1H	NM_021098.3(CACNA1H):c.3846-10G>A	noncoding	Benign/Likely_benign
16	1210362	C	T	C1210362T	CACNA1H	NM_021098.3(CACNA1H):c.3846-8C>T	noncoding	Benign
16	1210385	C	T	C1210385T	CACNA1H	NM_021098.3(CACNA1H):c.3861C>T:p.Cys1287=	coding	Benign
16	1210481	T	C	T1210481C	CACNA1H	NM_021098.3(CACNA1H):c.3957T>C:p.Asp1319=	coding	Benign
16	1210577	C	T	C1210577T	CACNA1H	NM_021098.3(CACNA1H):c.3970-6C>T	noncoding	Benign
16	1210578	G	A	G1210578A	CACNA1H	NM_021098.3(CACNA1H):c.3970-5G>A	noncoding	Benign
16	1210636	G	A	G1210636A	CACNA1H	NM_021098.3(CACNA1H):c.4023G>A:p.Ala1341=	coding	Benign
16	1211162	C	T	C1211162T	CACNA1H	NM_021098.3(CACNA1H):c.4224-6C>T	noncoding	Benign
16	1211192	C	G	C1211192G	CACNA1H	NM_021098.3(CACNA1H):c.4248C>G:p.Leu1416=	coding	Benign
16	1211219	A	G	A1211219G	CACNA1H	NM_021098.3(CACNA1H):c.4275A>G:p.Ser1425=	coding	Benign
16	1211222	A	G	A1211222G	CACNA1H	NM_021098.3(CACNA1H):c.4278A>G:p.Ser1426=	coding	Benign
16	1211258	C	T	C1211258T	CACNA1H	NM_021098.3(CACNA1H):c.4314C>T:p.Cys1438=	coding	Benign
16	1211282	T	C	T1211282C	CACNA1H	NM_021098.3(CACNA1H):c.4338T>C:p.Ile1446=	coding	Benign
16	1211516	C	T	C1211516T	CACNA1H	NM_021098.3(CACNA1H):c.4386C>T:p.Pro1462=	coding	Benign
16	1211550	C	T	C1211550T	CACNA1H	NM_021098.3(CACNA1H):c.4420C>T:p.Arg1474Trp	coding	Benign
16	1211794	G	A	G1211794A	CACNA1H	NM_021098.3(CACNA1H):c.4555G>A:p.Val1519Ile	coding	Benign
16	1211963	C	T	C1211963T	CACNA1H	NM_021098.3(CACNA1H):c.4584C>T:p.Asn1528=	coding	Benign
16	1212014	C	T	C1212014T	CACNA1H	NM_021098.3(CACNA1H):c.4635C>T:p.Phe1545=	coding	Benign
16	1212024	A	G	A1212024G	CACNA1H	NM_021098.3(CACNA1H):c.4645A>G:p.Met1549Val	coding	Pathogenic
16	1212093	C	T	C1212093T	CACNA1H	NM_021098.3(CACNA1H):c.4714C>T:p.Arg1572Trp	coding	Benign/Likely_benign
16	1212116	G	A	G1212116A	CACNA1H	NM_021098.3(CACNA1H):c.4737G>A:p.Arg1579=	coding	Benign/Likely_benign
16	1213775	C	T	C1213775T	CACNA1H	NM_021098.3(CACNA1H):c.4778-5C>T	noncoding	Benign
16	1213792	G	A	G1213792A	CACNA1H	NM_021098.3(CACNA1H):c.4790G>A:p.Arg1597Gln	coding	Benign
16	1213819	C	T	C1213819T	CACNA1H	NM_021098.3(CACNA1H):c.4817C>T:p.Thr1606Met	coding	Benign/Likely_benign
16	1213838	G	A	G1213838A	CACNA1H	NM_021098.3(CACNA1H):c.4836G>A:p.Ser1612=	coding	Benign
16	1213939	C	T	C1213939T	CACNA1H	NM_021098.3(CACNA1H):c.4929+8C>T	noncoding	Benign
16	1214974	G	A	G1214974A	CACNA1H	NM_021098.3(CACNA1H):c.4932G>A:p.Ser1644=	coding	Benign
16	1215025	C	A	C1215025A	CACNA1H	NM_021098.3(CACNA1H):c.4983C>A:p.Val1661=	coding	Benign
16	1215028	C	T	C1215028T	CACNA1H	NM_021098.3(CACNA1H):c.4986C>T:p.Phe1662=	coding	Benign
16	1215315	G	A	G1215315A	CACNA1H	NM_021098.3(CACNA1H):c.5113G>A:p.Ala1705Thr	coding	Benign/Likely_benign
16	1215385	C	T	C1215385T	CACNA1H	NM_021098.3(CACNA1H):c.5173+10C>T	noncoding	Benign/Likely_benign
16	1215557	C	T	C1215557T	CACNA1H	NM_021098.3(CACNA1H):c.5208C>T:p.Arg1736=	coding	Benign
16	1215600	G	A	G1215600A	CACNA1H	NM_021098.3(CACNA1H):c.5244+7G>A	noncoding	Benign
16	1216940	C	T	C1216940T	CACNA1H	NM_021098.3(CACNA1H):c.5253C>T:p.Asn1751=	coding	Benign
16	1216982	G	A	G1216982A	CACNA1H	NM_021098.3(CACNA1H):c.5295G>A:p.Ala1765=	coding	Benign
16	1217915	G	A	G1217915A	CACNA1H	NM_021098.3(CACNA1H):c.5324-4G>A	noncoding	Benign
16	1217973	A	G	A1217973G	CACNA1H	NM_021098.3(CACNA1H):c.5378A>G:p.Asn1793Ser	coding	Benign
16	1218013	G	C	G1218013C	CACNA1H	NM_021098.3(CACNA1H):c.5418G>C:p.Thr1806=	coding	Benign
16	1218044	C	T	C1218044T	CACNA1H	NM_021098.3(CACNA1H):c.5445+4C>T	noncoding	Benign
16	1218047	G	A	G1218047A	CACNA1H	NM_021098.3(CACNA1H):c.5445+7G>A	noncoding	Benign
16	1218257	C	T	C1218257T	CACNA1H	NM_021098.3(CACNA1H):c.5493C>T:p.Tyr1831=	coding	Benign
16	1218376	G	A	G1218376A	CACNA1H	NM_021098.3(CACNA1H):c.5612G>A:p.Arg1871Gln	coding	Benign
16	1218419	G	A	G1218419A	CACNA1H	NM_021098.3(CACNA1H):c.5655G>A:p.Ala1885=	coding	Benign
16	1218439	G	T	G1218439T	CACNA1H	NM_021098.3(CACNA1H):c.5675G>T:p.Arg1892Leu	coding	Benign
16	1218443	G	T	G1218443T	CACNA1H	NM_021098.3(CACNA1H):c.5679G>T:p.Arg1893=	coding	Benign
16	1218485	C	T	C1218485T	CACNA1H	NM_021098.3(CACNA1H):c.5721C>T:p.Gly1907=	coding	Benign
16	1218494	C	T	C1218494T	CACNA1H	NM_021098.3(CACNA1H):c.5730C>T:p.Asp1910=	coding	Benign
16	1218513	C	T	C1218513T	CACNA1H	NM_021098.3(CACNA1H):c.5749C>T:p.Arg1917Cys	coding	Benign
16	1218542	G	A	G1218542A	CACNA1H	NM_021098.3(CACNA1H):c.5778G>A:p.Ser1926=	coding	Benign
16	1218572	C	T	C1218572T	CACNA1H	NM_021098.3(CACNA1H):c.5808C>T:p.Pro1936=	coding	Benign
16	1218596	C	T	C1218596T	CACNA1H	NM_021098.3(CACNA1H):c.5832C>T:p.His1944=	coding	Benign
16	1218604	C	T	C1218604T	CACNA1H	NM_021098.3(CACNA1H):c.5840C>T:p.Pro1947Leu	coding	Benign
16	1218979	C	T	C1218979T	CACNA1H	NM_021098.3(CACNA1H):c.5897C>T:p.Ala1966Val	coding	Benign
16	1219003	A	G	A1219003G	CACNA1H	NM_021098.3(CACNA1H):c.5921A>G:p.Glu1974Gly	coding	Benign
16	1219006	C	T	C1219006T	CACNA1H	NM_021098.3(CACNA1H):c.5924C>T:p.Ser1975Phe	coding	Benign/Likely_benign
16	1219029	T	C	T1219029C	CACNA1H	NM_021098.3(CACNA1H):c.5947T>C:p.Leu1983=	coding	Benign
16	1219040	G	A	G1219040A	CACNA1H	NM_021098.3(CACNA1H):c.5958G>A:p.Ser1986=	coding	Benign
16	1219071	G	A	G1219071A	CACNA1H	NM_021098.3(CACNA1H):c.5989G>A:p.Ala1997Thr	coding	Benign
16	1219095	C	T	C1219095T	CACNA1H	NM_021098.3(CACNA1H):c.6013C>T:p.Arg2005Cys	coding	Benign
16	1219109	C	T	C1219109T	CACNA1H	NM_021098.3(CACNA1H):c.6027C>T:p.Leu2009=	coding	Benign
16	1220055	T	C	T1220055C	CACNA1H	NM_021098.3(CACNA1H):c.6123T>C:p.Gly2041=	coding	Benign
16	1220111	G	A	G1220111A	CACNA1H	NM_021098.3(CACNA1H):c.6179G>A:p.Arg2060His	coding	Benign
16	1220127	C	T	C1220127T	CACNA1H	NM_021098.3(CACNA1H):c.6195C>T:p.Ala2065=	coding	Benign
16	1220154	C	T	C1220154T	CACNA1H	NM_021098.3(CACNA1H):c.6222C>T:p.Phe2074=	coding	Benign
16	1220162	G	A	G1220162A	CACNA1H	NM_021098.3(CACNA1H):c.6230G>A:p.Arg2077His	coding	Benign
16	1220166	C	T	C1220166T	CACNA1H	NM_021098.3(CACNA1H):c.6234C>T:p.Cys2078=	coding	Benign
16	1220205	C	T	C1220205T	CACNA1H	NM_021098.3(CACNA1H):c.6273C>T:p.Ala2091=	coding	Benign
16	1220256	C	T	C1220256T	CACNA1H	NM_021098.3(CACNA1H):c.6324C>T:p.Ala2108=	coding	Benign
16	1220349	T	C	T1220349C	CACNA1H	NM_021098.3(CACNA1H):c.6417T>C:p.Asp2139=	coding	Benign
16	1220350	G	A	G1220350A	CACNA1H	NM_021098.3(CACNA1H):c.6418G>A:p.Ala2140Thr	coding	Benign
16	1220361	C	T	C1220361T	CACNA1H	NM_021098.3(CACNA1H):c.6429C>T:p.Phe2143=	coding	Benign
16	1220449	C	T	C1220449T	CACNA1H	NM_021098.3(CACNA1H):c.6517C>T:p.Pro2173Ser	coding	Benign
16	1220463	C	T	C1220463T	CACNA1H	NM_021098.3(CACNA1H):c.6531C>T:p.Pro2177=	coding	Benign
16	1220475	G	A	G1220475A	CACNA1H	NM_021098.3(CACNA1H):c.6543G>A:p.Ala2181=	coding	Benign
16	1220511	G	A	G1220511A	CACNA1H	NM_021098.3(CACNA1H):c.6579G>A:p.Ser2193=	coding	Benign
16	1220554	G	A	G1220554A	CACNA1H	NM_021098.3(CACNA1H):c.6622G>A:p.Ala2208Thr	coding	Benign
16	1220585	G	A	G1220585A	CACNA1H	NM_021098.3(CACNA1H):c.6653G>A:p.Arg2218His	coding	Benign/Likely_benign
16	1220649	C	T	C1220649T	CACNA1H	NM_021098.3(CACNA1H):c.6717C>T:p.Gly2239=	coding	Benign
16	1220780	A	T	A1220780T	CACNA1H	NM_021098.3(CACNA1H):c.6848A>T:p.Asp2283Val	coding	Benign
16	1220848	C	G	C1220848G	CACNA1H	NM_021098.3(CACNA1H):c.6916C>G:p.Pro2306Ala	coding	Benign
16	1220866	A	G	A1220866G	CACNA1H	NM_021098.3(CACNA1H):c.6934A>G:p.Met2312Val	coding	Benign
16	1220871	C	T	C1220871T	CACNA1H	NM_021098.3(CACNA1H):c.6939C>T:p.Pro2313=	coding	Benign
16	1221004	T	A	T1221004A	CACNA1H	NM_021098.3(CACNA1H):c.*10T>A	noncoding	Benign
16	1221970	C	T	C1221970T	TPSG1	NM_012467.4(TPSG1):c.784G>A:p.Val262Met	coding	Benign
16	1222785	G	A	G1222785A	TPSG1	NM_012467.4(TPSG1):c.378C>T:p.Ile126=	coding	Benign
16	1229573	C	G	C1229573G	TPSB2	NM_024164.6(TPSB2):c.226G>C:p.Val76Leu	coding	Benign
16	1229731	C	A	C1229731A	TPSB2	NM_024164.6(TPSB2):c.68G>T:p.Gly23Val	coding	Benign
16	1258153	G	A	G1258153A	TPSD1	NM_012217.3(TPSD1):c.615G>A:p.Thr205=	coding	Benign
16	1258332	G	A	G1258332A	TPSD1	NM_012217.3(TPSD1):c.685G>A:p.Gly229Ser	coding	Benign
16	1361760	C	T	C1361760T	GNPTG	NM_032520.5(GNPTG):c.196C>T:p.Arg66Ter	coding	Pathogenic
16	1361798	G	C	G1361798C	GNPTG	NM_032520.5(GNPTG):c.233+1G>C	coding	Pathogenic
16	1361804	G	T	G1361804T	GNPTG	NM_032520.5(GNPTG):c.233+7G>T	noncoding	Benign
16	1361909	C	T	C1361909T	GNPTG	NM_032520.5(GNPTG):c.271C>T:p.Gln91Ter	coding	Pathogenic
16	1362037	G	A	G1362037A	GNPTG	NM_032520.5(GNPTG):c.318-1G>A	noncoding	Pathogenic
16	1362037	G	C	G1362037C	GNPTG	NM_032520.5(GNPTG):c.318-1G>C	noncoding	Pathogenic
16	1362048	G	T	G1362048T	GNPTG	NM_032520.5(GNPTG):c.328G>T:p.Glu110Ter	coding	Pathogenic
16	1362053	G	A	G1362053A	GNPTG	NM_032520.5(GNPTG):c.333G>A:p.Trp111Ter	coding	Pathogenic
16	1362085	G	A	G1362085A	GNPTG	NM_032520.5(GNPTG):c.365G>A:p.Trp122Ter	coding	Pathogenic
16	1362244	T	G	T1362244G	GNPTG	NM_032520.5(GNPTG):c.450T>G:p.His150Gln	coding	Benign
16	1362271	C	T	C1362271T	GNPTG	NM_032520.5(GNPTG):c.477C>T:p.Tyr159=	coding	Benign
16	1362273	C	T	C1362273T	GNPTG	NM_032520.5(GNPTG):c.479C>T:p.Ala160Val	coding	Benign
16	1362442	G	A	G1362442A	GNPTG	NM_032520.5(GNPTG):c.527-10G>A	noncoding	Pathogenic
16	1362609	A	G	A1362609G	GNPTG	NM_032520.5(GNPTG):c.610-2A>G	noncoding	Pathogenic
16	1362610	G	T	G1362610T	GNPTG	NM_032520.5(GNPTG):c.610-1G>T	noncoding	Pathogenic
16	1362659	A	T	A1362659T	GNPTG	NM_032520.5(GNPTG):c.658A>T:p.Lys220Ter	coding	Pathogenic
16	1363083	A	G	A1363083G	GNPTG	NM_032520.5(GNPTG):c.910A>G:p.Ser304Gly	coding	Benign
16	1363315	T	C	T1363315C	GNPTG	NM_032520.5(GNPTG):c.*224T>C	noncoding	Benign
16	1444986	C	G	C1444986G	CLCN7	NM_001287.6(CLCN7):c.*1645G>C	noncoding	Benign
16	1445005	C	G	C1445005G	CLCN7	NM_001287.6(CLCN7):c.*1626G>C	noncoding	Benign
16	1445242	T	G	T1445242G	CLCN7	NM_001287.6(CLCN7):c.*1389A>C	noncoding	Benign
16	1445299	G	A	G1445299A	CLCN7	NM_001287.6(CLCN7):c.*1332C>T	noncoding	Benign
16	1445455	G	A	G1445455A	CLCN7	NM_001287.6(CLCN7):c.*1176C>T	noncoding	Benign
16	1445474	G	A	G1445474A	CLCN7	NM_001287.6(CLCN7):c.*1157C>T	noncoding	Benign
16	1445641	G	A	G1445641A	CLCN7	NM_001287.6(CLCN7):c.*990C>T	noncoding	Benign
16	1445744	G	A	G1445744A	CLCN7	NM_001287.6(CLCN7):c.*887C>T	noncoding	Benign
16	1445745	G	A	G1445745A	CLCN7	NM_001287.6(CLCN7):c.*886C>T	noncoding	Benign
16	1445896	G	A	G1445896A	CLCN7	NM_001287.6(CLCN7):c.*735C>T	noncoding	Benign
16	1446004	T	C	T1446004C	CLCN7	NM_001287.6(CLCN7):c.*627A>G	noncoding	Benign
16	1446101	C	T	C1446101T	CLCN7	NM_001287.6(CLCN7):c.*530G>A	noncoding	Benign
16	1446135	A	G	A1446135G	CLCN7	NM_001287.6(CLCN7):c.*496T>C	noncoding	Benign
16	1446369	C	T	C1446369T	CLCN7	NM_001287.6(CLCN7):c.*262G>A	noncoding	Benign
16	1446612	T	C	T1446612C	CLCN7	NM_001287.6(CLCN7):c.*19A>G	noncoding	Benign
16	1447038	G	A	G1447038A	CLCN7	NM_001287.6(CLCN7):c.2299C>T:p.Arg767Trp	coding	Pathogenic
16	1447040	A	G	A1447040G	CLCN7	NM_001287.6(CLCN7):c.2297T>C:p.Leu766Pro	coding	Pathogenic
16	1447052	C	T	C1447052T	CLCN7	NM_001287.6(CLCN7):c.2285G>A:p.Arg762Gln	coding	Pathogenic
16	1447391	C	A	C1447391A	CLCN7	NM_001287.6(CLCN7):c.2250+1G>T	noncoding	Pathogenic
16	1447494	C	T	C1447494T	CLCN7	NM_001287.6(CLCN7):c.2148G>A:p.Pro716=	coding	Benign
16	1447498	T	C	T1447498C	CLCN7	NM_001287.6(CLCN7):c.2144A>G:p.Tyr715Cys	coding	Pathogenic
16	1447639	G	A	G1447639A	CLCN7	NM_001287.6(CLCN7):c.2073+16C>T	noncoding	Benign
16	1448407	G	A	G1448407A	CLCN7	NM_001287.6(CLCN7):c.1961C>T:p.Thr654Met	coding	Benign/Likely_benign
16	1448707	C	T	C1448707T	CLCN7	NM_001287.6(CLCN7):c.1857G>A:p.Pro619=	coding	Benign
16	1448758	G	A	G1448758A	CLCN7	NM_001287.6(CLCN7):c.1806C>T:p.Tyr602=	coding	Benign
16	1448774	C	T	C1448774T	CLCN7	NM_001287.6(CLCN7):c.1798-8G>A	noncoding	Benign
16	1448776	G	A	G1448776A	CLCN7	NM_001287.6(CLCN7):c.1798-10C>T	noncoding	Benign
16	1448950	C	T	C1448950T	CLCN7	NM_001287.6(CLCN7):c.1797+16G>A	noncoding	Benign
16	1449092	G	A	G1449092A	CLCN7	NM_001287.6(CLCN7):c.1671C>T:p.Gly557=	coding	Benign
16	1449282	G	A	G1449282A	CLCN7	NM_001287.6(CLCN7):c.1663C>T:p.Gln555Ter	coding	Pathogenic
16	1449319	C	A	C1449319A	CLCN7	NM_001287.6(CLCN7):c.1626G>T:p.Ala542=	coding	Benign
16	1450378	C	T	C1450378T	CLCN7	NM_001287.6(CLCN7):c.1617+119G>A	noncoding	Pathogenic
16	1450484	C	T	C1450484T	CLCN7	NM_001287.6(CLCN7):c.1617+13G>A	noncoding	Benign
16	1450500	C	T	C1450500T	CLCN7	NM_001287.6(CLCN7):c.1614G>A:p.Ala538=	coding	Benign
16	1452856	C	T	C1452856T	CLCN7	NM_001287.6(CLCN7):c.1252G>A:p.Val418Met	coding	Benign/Likely_benign
16	1452863	A	G	A1452863G	CLCN7	NM_001287.6(CLCN7):c.1245T>C:p.Ile415=	coding	Benign
16	1453878	T	A	T1453878A	CLCN7	NM_001287.6(CLCN7):c.1170A>T:p.Ala390=	coding	Benign
16	1454436	C	T	C1454436T	CLCN7	NM_001287.6(CLCN7):c.1128G>A:p.Pro376=	coding	Benign
16	1455791	C	T	C1455791T	CLCN7	NM_001287.6(CLCN7):c.921G>A:p.Gly307=	coding	Benign
16	1456129	C	T	C1456129T	CLCN7	NM_001287.6(CLCN7):c.900G>A:p.Ala300=	coding	Benign
16	1456140	C	T	C1456140T	CLCN7	NM_001287.6(CLCN7):c.889G>A:p.Val297Met	coding	Pathogenic
16	1457237	A	G	A1457237G	CLCN7	NM_001287.6(CLCN7):c.822+17T>C	noncoding	Benign
16	1457275	C	T	C1457275T	CLCN7	NM_001287.6(CLCN7):c.801G>A:p.Thr267=	coding	Benign
16	1457295	T	A	T1457295A	CLCN7	NM_001287.6(CLCN7):c.781A>T:p.Ile261Phe	coding	Pathogenic
16	1457736	G	A	G1457736A	CLCN7	NM_001287.6(CLCN7):c.696C>T:p.Ser232=	coding	Benign
16	1459097	G	A	G1459097A	CLCN7	NM_001287.6(CLCN7):c.675+10C>T	noncoding	Benign
16	1459122	G	A	G1459122A	CLCN7	NM_001287.6(CLCN7):c.660C>T:p.His220=	coding	Benign
16	1459139	C	T	C1459139T	CLCN7	NM_001287.6(CLCN7):c.643G>A:p.Gly215Arg	coding	Pathogenic
16	1460534	C	T	C1460534T	CLCN7	NM_001287.6(CLCN7):c.485-7G>A	noncoding	Benign
16	1460537	A	G	A1460537G	CLCN7	NM_001287.6(CLCN7):c.485-10T>C	noncoding	Benign
16	1461460	T	C	T1461460C	CLCN7	NM_001287.6(CLCN7):c.296A>G:p.Tyr99Cys	coding	Pathogenic/Likely_pathogenic
16	1461479	C	A	C1461479A	CLCN7	NM_001287.6(CLCN7):c.286-9G>T	noncoding	Benign/Likely_benign
16	1474836	G	A	G1474836A	CLCN7	NM_001287.6(CLCN7):c.139C>T:p.Gln47Ter	coding	Pathogenic
16	1474849	A	G	A1474849G	CLCN7	NM_001287.6(CLCN7):c.126T>C:p.Pro42=	coding	Benign
16	1474994	C	G	C1474994G	CLCN7	NM_001287.6(CLCN7):c.-20G>C	noncoding	Benign
16	1475006	C	T	C1475006T	CLCN7	NM_001287.6(CLCN7):c.-32G>A	noncoding	Benign
16	1494355	G	A	G1494355A	TELO2	NM_016111.4(TELO2):c.74G>A:p.Gly25Asp	coding	Benign
16	1494356	C	T	C1494356T	TELO2	NM_016111.4(TELO2):c.75C>T:p.Gly25=	coding	Benign
16	1494519	C	A	C1494519A	TELO2	NM_016111.4(TELO2):c.238C>A:p.His80Asn	coding	Benign
16	1495340	C	G	C1495340G	TELO2	NM_016111.4(TELO2):c.336-6C>G	noncoding	Benign
16	1495588	T	C	T1495588C	TELO2	NM_016111.4(TELO2):c.578T>C:p.Val193Ala	coding	Benign
16	1497457	C	T	C1497457T	TELO2	NM_016111.4(TELO2):c.779C>T:p.Pro260Leu	coding	Pathogenic
16	1499310	C	T	C1499310T	TELO2	NM_016111.4(TELO2):c.910C>T:p.Leu304=	coding	Benign
16	1500112	G	A	G1500112A	TELO2	NM_016111.4(TELO2):c.950G>A:p.Ser317Asn	coding	Benign
16	1500705	C	T	C1500705T	TELO2	NM_016111.4(TELO2):c.1281+6C>T	noncoding	Benign
16	1501441	C	T	C1501441T	TELO2	NM_016111.4(TELO2):c.1303C>T:p.Leu435Phe	coding	Benign
16	1502106	C	T	C1502106T	TELO2	NM_016111.4(TELO2):c.1532C>T:p.Ala511Val	coding	Benign
16	1502117	G	T	G1502117T	TELO2	NM_016111.4(TELO2):c.1543G>T:p.Val515Phe	coding	Benign
16	1502986	G	A	G1502986A	TELO2	NM_016111.4(TELO2):c.1826G>A:p.Arg609His	coding	Pathogenic/Likely_pathogenic
16	1505430	G	A	G1505430A	TELO2	NM_016111.4(TELO2):c.1863G>A:p.Gln621=	coding	Benign
16	1505454	C	T	C1505454T	TELO2	NM_016111.4(TELO2):c.1887C>T:p.Leu629=	coding	Benign
16	1505526	T	A	T1505526A	TELO2	NM_016111.4(TELO2):c.1959T>A:p.Pro653=	coding	Benign
16	1505541	G	A	G1505541A	TELO2	NM_016111.4(TELO2):c.1974G>A:p.Ala658=	coding	Benign
16	1505590	C	T	C1505590T	TELO2	NM_016111.4(TELO2):c.2023C>T:p.Arg675Trp	coding	Benign
16	1506967	C	T	C1506967T	TELO2	NM_016111.4(TELO2):c.2142C>T:p.Phe714=	coding	Benign
16	1507595	C	T	C1507595T	TELO2	NM_016111.4(TELO2):c.2292-6C>T	noncoding	Benign
16	1507604	C	T	C1507604T	TELO2	NM_016111.4(TELO2):c.2295C>T:p.Tyr765=	coding	Benign
16	1507685	C	T	C1507685T	TELO2	NM_016111.4(TELO2):c.2376C>T:p.Asp792=	coding	Benign
16	1509821	G	T	G1509821T	TELO2	NM_016111.4(TELO2):c.2408-9G>T	noncoding	Benign
16	1510709	G	T	G1510709T	IFT140	NM_014714.4(IFT140):c.*235C>A	noncoding	Benign
16	1510885	A	G	A1510885G	IFT140	NM_014714.4(IFT140):c.*59T>C	noncoding	Benign
16	1510953	G	A	G1510953A	IFT140	NM_014714.4(IFT140):c.4380C>T:p.Asp1460=	coding	Benign
16	1511137	A	G	A1511137G	IFT140	NM_014714.4(IFT140):c.4196T>C:p.Leu1399Pro	coding	Pathogenic
16	1518320	A	G	A1518320G	IFT140	NM_014714.4(IFT140):c.4078T>C:p.Cys1360Arg	coding	Pathogenic
16	1519871	G	A	G1519871A	IFT140	NM_014714.4(IFT140):c.4040+10C>T	noncoding	Benign
16	1519930	G	A	G1519930A	IFT140	NM_014714.4(IFT140):c.3991C>T:p.Gln1331Ter	coding	Pathogenic
16	1519931	C	T	C1519931T	IFT140	NM_014714.4(IFT140):c.3990G>A:p.Ala1330=	coding	Benign
16	1519933	C	T	C1519933T	IFT140	NM_014714.4(IFT140):c.3988G>A:p.Ala1330Thr	coding	Benign
16	1519982	G	T	G1519982T	IFT140	NM_014714.4(IFT140):c.3939C>A:p.Cys1313Ter	coding	Pathogenic/Likely_pathogenic
16	1520177	C	T	C1520177T	IFT140	NM_014714.4(IFT140):c.3827G>A:p.Gly1276Glu	coding	Pathogenic
16	1520261	A	G	A1520261G	IFT140	NM_014714.4(IFT140):c.3743T>C:p.Ile1248Thr	coding	Benign
16	1520293	G	A	G1520293A	IFT140	NM_014714.4(IFT140):c.3711C>T:p.Phe1237=	coding	Benign/Likely_benign
16	1523809	A	G	A1523809G	IFT140	NM_014714.4(IFT140):c.3270+19T>C	noncoding	Benign
16	1523889	G	A	G1523889A	IFT140	NM_014714.4(IFT140):c.3209C>T:p.Ala1070Val	coding	Benign
16	1524551	C	A	C1524551A	IFT140	NM_014714.4(IFT140):c.3141+1G>T	noncoding	Pathogenic
16	1524614	C	T	C1524614T	IFT140	NM_014714.4(IFT140):c.3079G>A:p.Gly1027Arg	coding	Benign
16	1524623	C	A	C1524623A	IFT140	NM_014714.4(IFT140):c.3070G>T:p.Glu1024Ter	coding	Pathogenic
16	1524793	A	G	A1524793G	IFT140	NM_014714.4(IFT140):c.2988T>C:p.Asn996=	coding	Benign/Likely_benign
16	1524862	G	A	G1524862A	IFT140	NM_014714.4(IFT140):c.2919C>T:p.Ala973=	coding	Benign
16	1525280	A	G	A1525280G	IFT140	NM_014714.4(IFT140):c.2815T>C:p.Ser939Pro	coding	Pathogenic
16	1525913	G	A	G1525913A	IFT140	NM_014714.4(IFT140):c.2742C>T:p.Ser914=	coding	Benign
16	1526044	G	A	G1526044A	IFT140	NM_014714.4(IFT140):c.2611C>T:p.Arg871Cys	coding	Pathogenic
16	1526594	C	T	C1526594T	IFT140	NM_014714.4(IFT140):c.2577+25G>A	noncoding	Pathogenic
16	1526627	C	T	C1526627T	IFT140	NM_014714.4(IFT140):c.2569G>A:p.Gly857Ser	coding	Benign/Likely_benign
16	1526646	G	A	G1526646A	IFT140	NM_014714.4(IFT140):c.2550C>T:p.Ala850=	coding	Benign
16	1526742	G	A	G1526742A	IFT140	NM_014714.4(IFT140):c.2454C>T:p.Asp818=	coding	Benign
16	1526798	T	C	T1526798C	IFT140	NM_014714.4(IFT140):c.2400-2A>G	noncoding	Pathogenic
16	1557934	C	A	C1557934A	IFT140	NM_014714.4(IFT140):c.2399+1G>T	noncoding	Pathogenic
16	1558004	A	C	A1558004C	IFT140	NM_014714.4(IFT140):c.2330T>G:p.Leu777Arg	coding	Benign
16	1558056	G	A	G1558056A	IFT140	NM_014714.4(IFT140):c.2278C>T:p.Arg760Ter	coding	Pathogenic
16	1558081	A	G	A1558081G	IFT140	NM_014714.4(IFT140):c.2253T>C:p.Pro751=	coding	Benign
16	1558087	G	A	G1558087A	IFT140	NM_014714.4(IFT140):c.2247C>T:p.His749=	coding	Benign
16	1562007	G	A	G1562007A	IFT140	NM_014714.4(IFT140):c.2177C>T:p.Pro726Leu	coding	Pathogenic
16	1564056	G	A	G1564056A	IFT140	NM_014714.4(IFT140):c.2008C>T:p.Pro670Ser	coding	Benign
16	1564074	C	T	C1564074T	IFT140	NM_014714.4(IFT140):c.1990G>A:p.Glu664Lys	coding	Pathogenic
16	1564096	A	G	A1564096G	IFT140	NM_014714.4(IFT140):c.1968T>C:p.Ser656=	coding	Benign
16	1564131	T	C	T1564131C	IFT140	NM_014714.4(IFT140):c.1933A>G:p.Asn645Asp	coding	Benign
16	1564146	C	T	C1564146T	IFT140	NM_014714.4(IFT140):c.1918G>A:p.Asp640Asn	coding	Benign
16	1566200	C	T	C1566200T	IFT140	NM_014714.4(IFT140):c.1862G>A:p.Arg621Gln	coding	Benign
16	1568305	C	T	C1568305T	IFT140	NM_014714.4(IFT140):c.1682G>A:p.Ser561Asn	coding	Benign
16	1571517	G	T	G1571517T	IFT140	NM_014714.4(IFT140):c.1542C>A:p.Leu514=	coding	Benign/Likely_benign
16	1571518	A	T	A1571518T	IFT140	NM_014714.4(IFT140):c.1541T>A:p.Leu514His	coding	Benign/Likely_benign
16	1580756	T	C	T1580756C	IFT140	NM_014714.4(IFT140):c.1524+3A>G	noncoding	Benign/Likely_benign
16	1580832	G	A	G1580832A	IFT140	NM_014714.4(IFT140):c.1451C>T:p.Thr484Met	coding	Pathogenic
16	1580838	C	T	C1580838T	IFT140	NM_014714.4(IFT140):c.1445G>A:p.Cys482Tyr	coding	Pathogenic
16	1583324	T	C	T1583324C	IFT140	NM_014714.4(IFT140):c.1422A>G:p.Ile474Met	coding	Benign
16	1583369	C	T	C1583369T	IFT140	NM_014714.4(IFT140):c.1377G>A:p.Trp459Ter	coding	Pathogenic
16	1584224	G	A	G1584224A	IFT140	NM_014714.4(IFT140):c.1352C>T:p.Ala451Val	coding	Benign
16	1584240	T	C	T1584240C	IFT140	NM_014714.4(IFT140):c.1336A>G:p.Ile446Val	coding	Benign/Likely_benign
16	1584257	A	G	A1584257G	IFT140	NM_014714.4(IFT140):c.1319T>C:p.Leu440Pro	coding	Pathogenic
16	1584376	G	A	G1584376A	IFT140	NM_014714.4(IFT140):c.1200C>T:p.Ser400=	coding	Benign
16	1584384	C	T	C1584384T	IFT140	NM_014714.4(IFT140):c.1192G>A:p.Val398Ile	coding	Benign
16	1586201	C	T	C1586201T	IFT140	NM_014714.4(IFT140):c.1084G>A:p.Gly362Arg	coding	Benign
16	1586202	G	A	G1586202A	IFT140	NM_014714.4(IFT140):c.1083C>T:p.Pro361=	coding	Benign
16	1586276	C	T	C1586276T	IFT140	NM_014714.4(IFT140):c.1010-1G>A	coding	Pathogenic
16	1587209	C	T	C1587209T	IFT140	NM_014714.4(IFT140):c.998G>A:p.Cys333Tyr	coding	Pathogenic
16	1587222	A	G	A1587222G	IFT140	NM_014714.4(IFT140):c.985T>C:p.Cys329Arg	coding	Pathogenic
16	1587275	T	C	T1587275C	IFT140	NM_014714.4(IFT140):c.932A>G:p.Tyr311Cys	coding	Pathogenic
16	1587961	C	T	C1587961T	IFT140	NM_014714.4(IFT140):c.874G>A:p.Val292Met	coding	Pathogenic
16	1587996	C	T	C1587996T	IFT140	NM_014714.4(IFT140):c.839G>A:p.Arg280Gln	coding	Benign
16	1587997	G	A	G1587997A	IFT140	NM_014714.4(IFT140):c.838C>T:p.Arg280Trp	coding	Benign
16	1587999	C	G	C1587999G	IFT140	NM_014714.4(IFT140):c.836G>C:p.Arg279Pro	coding	Benign
16	1589792	C	G	C1589792G	IFT140	NM_014714.4(IFT140):c.635-12G>C	noncoding	Benign
16	1592176	C	T	C1592176T	IFT140	NM_014714.4(IFT140):c.634G>A:p.Gly212Arg	coding	Pathogenic/Likely_pathogenic
16	1592252	C	T	C1592252T	IFT140	NM_014714.4(IFT140):c.558G>A:p.Trp186Ter	coding	Pathogenic
16	1592332	C	T	C1592332T	IFT140	NM_014714.4(IFT140):c.492-14G>A	noncoding	Benign
16	1592460	C	T	C1592460T	IFT140	NM_014714.4(IFT140):c.491+7G>A	noncoding	Benign/Likely_benign
16	1592499	C	A	C1592499A	IFT140	NM_014714.4(IFT140):c.459G>T:p.Thr153=	coding	Benign
16	1592504	G	A	G1592504A	IFT140	NM_014714.4(IFT140):c.454C>T:p.Leu152Phe	coding	Pathogenic
16	1602417	C	T	C1602417T	IFT140	NM_014714.4(IFT140):c.322G>A:p.Val108Met	coding	Benign
16	1602499	C	T	C1602499T	IFT140	NM_014714.4(IFT140):c.240G>A:p.Trp80Ter	coding	Pathogenic
16	1602527	G	A	G1602527A	IFT140;LOC105371046	NM_014714.4(IFT140):c.212C>T:p.Pro71Leu	coding	Pathogenic
16	1607283	C	G	C1607283G	IFT140	NM_014714.4(IFT140):c.-17G>C	noncoding	Benign
16	1706405	C	T	C1706405T	MAPK8IP3	NM_001318852.1(MAPK8IP3):c.66C>T:p.Gly22=	coding	Benign
16	1762843	C	T	C1762843T	MAPK8IP3	NM_015133.5(MAPK8IP3):c.1732C>T:p.Arg578Cys	coding	Pathogenic/Likely_pathogenic
16	1764312	C	T	C1764312T	MAPK8IP3	NM_001318852.1(MAPK8IP3):c.2133C>T:p.Ala711=	coding	Benign
16	1766628	G	A	G1766628A	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2919G>A:p.Trp973Ter	coding	Pathogenic
16	1766813	C	A	C1766813A	MAPK8IP3	NM_001318852.1(MAPK8IP3):c.3020+10C>A	noncoding	Benign
16	1767834	C	T	C1767834T	MAPK8IP3	NM_015133.5(MAPK8IP3):c.3436C>T:p.Arg1146Cys	coding	Pathogenic/Likely_pathogenic
16	1767854	C	T	C1767854T	MAPK8IP3	NM_001318852.1(MAPK8IP3):c.3459C>T:p.Val1153=	coding	Benign
16	1771330	G	A	G1771330A	NME3	NM_002513.2(NME3):c.127C>T:p.Arg43Trp	coding	Benign
16	1772656	C	T	C1772656T	MRPS34	NM_023936.2(MRPS34):c.322-10G>A	noncoding	Pathogenic
16	1772798	C	A	C1772798A	MRPS34	NM_023936.1(MRPS34):c.321+1G>T	noncoding	Pathogenic
16	1773023	G	T	G1773023T	MRPS34	NM_023936.2(MRPS34):c.97C>A:p.Leu33Ile	coding	Benign
16	1773026	G	A	G1773026A	MRPS34	NM_023936.2(MRPS34):c.94C>T:p.Gln32Ter	coding	Pathogenic/Likely_pathogenic
16	1773439	A	G	A1773439G	EME2	NM_001257370.1(EME2):c.212A>G:p.Gln71Arg	coding	Benign
16	1773463	G	T	G1773463T	EME2	NM_001257370.1(EME2):c.236G>T:p.Cys79Phe	coding	Benign
16	1775371	G	A	G1775371A	EME2	NM_001257370.1(EME2):c.626G>A:p.Gly209Asp	coding	Benign
16	1775968	C	T	C1775968T	EME2	NM_001257370.1(EME2):c.951C>T:p.Ser317=	coding	Benign
16	1775981	C	T	C1775981T	EME2	NM_001257370.1(EME2):c.964C>T:p.Gln322Ter	coding	Benign
16	1778281	G	A	G1778281A	SPSB3	NM_080861.4(SPSB3):c.345C>T:p.Ala115=	coding	Benign
16	1787990	C	T	C1787990T	NUBP2	NM_012225.4(NUBP2):c.539C>T:p.Thr180Met	coding	Benign
16	1788149	C	T	C1788149T	NUBP2	NM_012225.4(NUBP2):c.612C>T:p.Ser204=	coding	Benign
16	1790776	G	A	G1790776A	IGFALS	NM_004970.2(IGFALS):c.1642C>T:p.Arg548Trp	coding	Benign
16	1790800	A	G	A1790800G	IGFALS	NM_004970.2(IGFALS):c.1618T>C:p.Cys540Arg	coding	Pathogenic
16	1790852	C	T	C1790852T	IGFALS	NM_004970.2(IGFALS):c.1566G>A:p.Thr522=	coding	Benign
16	1790957	C	A	C1790957A	IGFALS	NM_004970.3(IGFALS):c.1461G>T:p.Leu487=	coding	Benign
16	1790993	C	T	C1790993T	IGFALS	NM_004970.2(IGFALS):c.1425G>A:p.Ala475=	coding	Benign
16	1791032	G	A	G1791032A	IGFALS	NM_004970.2(IGFALS):c.1386C>T:p.Tyr462=	coding	Benign
16	1791460	G	A	G1791460A	IGFALS	NM_004970.3(IGFALS):c.958C>T:p.Gln320Ter	coding	Benign
16	1791605	C	G	C1791605G	IGFALS	NM_004970.3(IGFALS):c.813G>C:p.Leu271=	coding	Benign
16	1791617	C	T	C1791617T	IGFALS	NM_004970.2(IGFALS):c.801G>A:p.Ala267=	coding	Benign
16	1791710	G	A	G1791710A	IGFALS	NM_004970.3(IGFALS):c.708C>T:p.Asn236=	coding	Benign
16	1791825	T	A	T1791825A	IGFALS	NM_004970.2(IGFALS):c.593A>T:p.Glu198Val	coding	Benign
16	1791968	C	T	C1791968T	IGFALS	NM_004970.3(IGFALS):c.450G>A:p.Ser150=	coding	Benign
16	1792129	G	A	G1792129A	IGFALS	NM_004970.2(IGFALS):c.289C>T:p.Leu97Phe	coding	Benign
16	1792208	A	G	A1792208G	IGFALS	NM_004970.2(IGFALS):c.210T>C:p.Asp70=	coding	Benign
16	1792319	C	T	C1792319T	IGFALS	NM_004970.2(IGFALS):c.99G>A:p.Pro33=	coding	Benign/Likely_benign
16	1792385	C	T	C1792385T	IGFALS	NM_004970.2(IGFALS):c.33G>A:p.Ala11=	coding	Benign
16	1792404	G	A	G1792404A	IGFALS	NM_004970.3(IGFALS):c.17-3C>T	coding	Benign
16	1793671	T	C	T1793671C	IGFALS	NM_004970.2(IGFALS):c.-19A>G	noncoding	Benign
16	1834371	G	A	G1834371A	MEIOB	NM_001163560.3(MEIOB):c.1306-5C>T	noncoding	Benign
16	1841902	C	A	C1841902A	MEIOB	NM_001163560.3(MEIOB):c.952G>T:p.Asp318Tyr	coding	Benign
16	1853267	C	T	C1853267T	MEIOB	NM_001163560.3(MEIOB):c.634G>A:p.Asp212Asn	coding	Benign
16	1857736	G	A	G1857736A	MEIOB	NM_001163560.3(MEIOB):c.527C>T:p.Ser176Leu	coding	Benign
16	1862053	T	A	T1862053A	MEIOB	NM_152764.3(MEIOB):c.191A>T:p.Asn64Ile	coding	Pathogenic
16	1947063	G	A	G1947063A	RPL3L	NM_005061.3(RPL3L):c.724C>T:p.Arg242Trp	coding	Benign
16	1947283	C	T	C1947283T	RPL3L	NM_005061.3(RPL3L):c.599G>A:p.Arg200Gln	coding	Benign
16	1961506	C	T	C1961506T	NDUFB10	NM_004548.3(NDUFB10):c.279C>T:p.Asp93=	coding	Benign
16	1961546	T	C	T1961546C	NDUFB10	NM_004548.3(NDUFB10):c.319T>C:p.Cys107Arg	coding	Pathogenic
16	1961873	A	G	A1961873G	NDUFB10	NM_004548.3(NDUFB10):c.486A>G:p.Lys162=	coding	Benign
16	1964288	G	A	G1964288A	RPS2	NM_002952.4(RPS2):c.255C>T:p.Ser85=	coding	Benign
16	1964488	T	C	T1964488C	RPS2	NM_002952.4(RPS2):c.138A>G:p.Arg46=	coding	Benign
16	1974558	G	A	G1974558A	TBL3	NM_006453.3(TBL3):c.258G>A:p.Arg86=	coding	Benign
16	1974946	G	A	G1974946A	TBL3	NM_006453.3(TBL3):c.483G>A:p.Pro161=	coding	Benign
16	1977434	G	C	G1977434C	TBL3	NM_006453.3(TBL3):c.1742+8G>C	noncoding	Benign
16	1983940	C	A	C1983940A	GFER	NC_000016.10:g.1983940C>A	noncoding	Benign
16	1983969	C	G	C1983969G	GFER	NC_000016.10:g.1983969C>G	noncoding	Benign
16	1984069	G	A	G1984069A	GFER	NC_000016.10:g.1984069G>A	noncoding	Benign
16	1984136	C	T	C1984136T	GFER	NC_000016.10:g.1984136C>T	noncoding	Benign
16	1984275	G	C	G1984275C	GFER	NM_005262.3(GFER):c.57G>C:p.Pro19=	coding	Benign
16	1984757	A	G	A1984757G	GFER	NM_005262.3(GFER):c.269A>G:p.Lys90Arg	coding	Benign
16	1984861	C	T	C1984861T	GFER	NM_005262.3(GFER):c.373C>T:p.Gln125Ter	coding	Pathogenic
16	1985761	T	C	T1985761C	GFER	NM_005262.3(GFER):c.456-105T>C	noncoding	Benign
16	1985783	C	T	C1985783T	GFER	NM_005262.3(GFER):c.456-83C>T	noncoding	Benign
16	1985867	C	T	C1985867T	GFER	NM_005262.3(GFER):c.457C>T:p.Leu153=	coding	Benign
16	1985906	T	C	T1985906C	GFER	NM_005262.3(GFER):c.496T>C:p.Phe166Leu	coding	Benign
16	1985976	C	G	C1985976G	GFER	NM_005262.3(GFER):c.566C>G:p.Ser189Ter	coding	Pathogenic
16	1985991	G	A	G1985991A	GFER	NM_005262.3(GFER):c.581G>A:p.Arg194His	coding	Pathogenic
16	1985996	C	T	C1985996T	GFER	NM_005262.3(GFER):c.586C>T:p.Arg196Cys	coding	Pathogenic
16	1985998	C	T	C1985998T	GFER	NM_005262.3(GFER):c.588C>T:p.Arg196=	coding	Benign
16	2027089	G	C	G2027089C	SLC9A3R2	NM_001130012.3(SLC9A3R2):c.84G>C:p.Glu28Asp	coding	Benign
16	2036797	G	A	G2036797A	SLC9A3R2	NM_001130012.3(SLC9A3R2):c.664G>A:p.Glu222Lys	coding	Benign
16	2039939	G	A	G2039939A	NTHL1	NM_002528.7(NTHL1):c.900C>T:p.Ala300=	coding	Benign
16	2040196	C	T	C2040196T	NTHL1	NM_002528.7(NTHL1):c.728G>A:p.Trp243Ter	coding	Pathogenic
16	2043566	C	T	C2043566T	NTHL1	NM_002528.7(NTHL1):c.685+1G>A	noncoding	Pathogenic
16	2043587	C	T	C2043587T	NTHL1	NM_002528.7(NTHL1):c.665G>A:p.Trp222Ter	coding	Pathogenic
16	2043648	C	A	C2043648A	NTHL1	NM_002528.7(NTHL1):c.604G>T:p.Glu202Ter	coding	Pathogenic
16	2043705	G	A	G2043705A	NTHL1	NM_002528.7(NTHL1):c.547C>T:p.Gln183Ter	coding	Pathogenic
16	2043727	C	T	C2043727T	NTHL1	NM_002528.7(NTHL1):c.526-1G>A	coding	Pathogenic/Likely_pathogenic
16	2044683	G	A	G2044683A	NTHL1	NM_002528.7(NTHL1):c.472C>T:p.Gln158Ter	coding	Pathogenic
16	2044722	G	A	G2044722A	NTHL1	NM_002528.7(NTHL1):c.433C>T:p.Arg145Ter	coding	Pathogenic
16	2044746	G	A	G2044746A	NTHL1	NM_002528.7(NTHL1):c.409C>T:p.Gln137Ter	coding	Pathogenic
16	2044789	G	C	G2044789C	NTHL1	NM_002528.7(NTHL1):c.366C>G:p.Tyr122Ter	coding	Pathogenic
16	2044789	G	T	G2044789T	NTHL1	NM_002528.7(NTHL1):c.366C>A:p.Tyr122Ter	coding	Pathogenic
16	2046223	G	A	G2046223A	NTHL1	NM_002528.7(NTHL1):c.259C>T:p.Gln87Ter	coding	Pathogenic
16	2046322	G	A	G2046322A	NTHL1	NM_002528.7(NTHL1):c.160C>T:p.Gln54Ter	coding	Pathogenic
16	2046376	G	C	G2046376C	NTHL1	NM_002528.7(NTHL1):c.116-10C>G	noncoding	Benign/Likely_benign
16	2047711	G	A	G2047711A	NTHL1	NM_002528.7(NTHL1):c.113C>T:p.Ala38Val	coding	Benign/Likely_benign
16	2048030	G	C	G2048030C	TSC2	NM_000548.5(TSC2):c.-65G>C	noncoding	Benign
16	2048577	G	C	G2048577C	TSC2	NM_000548.5(TSC2):c.-29-10G>C	noncoding	Benign
16	2048635	A	G	A2048635G	TSC2	NM_000548.5(TSC2):c.20A>G:p.Lys7Arg	coding	Benign/Likely_benign
16	2048641	C	G	C2048641G	TSC2	NM_000548.5(TSC2):c.26C>G:p.Ser9Ter	coding	Pathogenic
16	2048649	A	T	A2048649T	TSC2	NM_000548.5(TSC2):c.34A>T:p.Lys12Ter	coding	Pathogenic
16	2048713	G	A	G2048713A	TSC2	NM_000548.5(TSC2):c.98G>A:p.Gly33Asp	coding	Benign
16	2048716	A	C	A2048716C	TSC2	NM_000548.5(TSC2):c.101A>C:p.Lys34Thr	coding	Benign/Likely_benign
16	2048755	T	C	T2048755C	TSC2	NM_000548.5(TSC2):c.138+2T>C	noncoding	Pathogenic
16	2048767	C	G	C2048767G	TSC2	NM_000548.5(TSC2):c.138+14C>G	noncoding	Benign
16	2048773	C	G	C2048773G	TSC2	NM_000548.5(TSC2):c.138+20C>G	noncoding	Benign
16	2050394	C	T	C2050394T	TSC2	NM_000548.5(TSC2):c.139-6C>T	noncoding	Benign
16	2050398	A	G	A2050398G	TSC2	NM_000548.5(TSC2):c.139-2A>G	noncoding	Pathogenic
16	2050399	G	A	G2050399A	TSC2	NM_000548.5(TSC2):c.139-1G>A	noncoding	Pathogenic
16	2050400	G	T	G2050400T	TSC2	NM_000548.5(TSC2):c.139G>T:p.Glu47Ter	coding	Pathogenic
16	2050428	A	G	A2050428G	TSC2	NM_000548.5(TSC2):c.167A>G:p.Asn56Ser	coding	Benign/Likely_benign
16	2050462	C	T	C2050462T	TSC2	NM_000548.5(TSC2):c.201C>T:p.Val67=	coding	Benign/Likely_benign
16	2050490	G	A	G2050490A	TSC2	NM_000548.5(TSC2):c.225+4G>A	noncoding	Benign
16	2053340	A	G	A2053340G	TSC2	NM_000548.5(TSC2):c.226-2A>G	noncoding	Pathogenic
16	2053344	C	T	C2053344T	TSC2	NM_000548.5(TSC2):c.228C>T:p.His76=	coding	Benign/Likely_benign
16	2053362	G	A	G2053362A	TSC2	NM_000548.5(TSC2):c.246G>A:p.Trp82Ter	coding	Pathogenic
16	2053371	C	T	C2053371T	TSC2	NM_000548.5(TSC2):c.255C>T:p.Val85=	coding	Benign/Likely_benign
16	2053372	G	A	G2053372A	TSC2	NM_000548.5(TSC2):c.256G>A:p.Ala86Thr	coding	Benign
16	2053374	G	A	G2053374A	TSC2	NM_000548.5(TSC2):c.258G>A:p.Ala86=	coding	Benign/Likely_benign
16	2053378	C	T	C2053378T	TSC2	NM_000548.5(TSC2):c.262C>T:p.Leu88=	coding	Benign/Likely_benign
16	2053384	C	T	C2053384T	TSC2	NM_000548.5(TSC2):c.268C>T:p.Gln90Ter	coding	Pathogenic
16	2053386	G	A	G2053386A	TSC2	NM_000548.5(TSC2):c.270G>A:p.Gln90=	coding	Benign/Likely_benign
16	2053388	C	T	C2053388T	TSC2	NM_000548.5(TSC2):c.272C>T:p.Pro91Leu	coding	Benign/Likely_benign
16	2053391	A	T	A2053391T	TSC2	NM_000548.5(TSC2):c.275A>T:p.Glu92Val	coding	Benign/Likely_benign
16	2053407	C	G	C2053407G	TSC2	NM_000548.5(TSC2):c.291C>G:p.Ala97=	coding	Benign/Likely_benign
16	2053408	C	A	C2053408A	TSC2	NM_000548.5(TSC2):c.292C>A:p.Arg98=	coding	Benign/Likely_benign
16	2053413	C	T	C2053413T	TSC2	NM_000548.5(TSC2):c.297C>T:p.His99=	coding	Benign/Likely_benign
16	2053444	C	T	C2053444T	TSC2	NM_000548.5(TSC2):c.328C>T:p.Gln110Ter	coding	Pathogenic
16	2053453	G	A	G2053453A	TSC2	NM_000548.5(TSC2):c.336+1G>A	coding	Pathogenic
16	2053453	G	C	G2053453C	TSC2	NM_000548.5(TSC2):c.336+1G>C	coding	Pathogenic
16	2053462	A	G	A2053462G	TSC2	NM_000548.5(TSC2):c.336+10A>G	noncoding	Benign
16	2053485	G	T	G2053485T	TSC2	NM_000548.5(TSC2):c.336+33G>T	noncoding	Benign/Likely_benign
16	2054270	G	C	G2054270C	TSC2	NM_000548.5(TSC2):c.337-26G>C	noncoding	Benign
16	2054295	G	A	G2054295A	TSC2	NM_000548.5(TSC2):c.337-1G>A	noncoding	Pathogenic
16	2054298	C	T	C2054298T	TSC2	NM_000548.5(TSC2):c.339C>T:p.Gly113=	coding	Benign/Likely_benign
16	2054317	A	T	A2054317T	TSC2	NM_000548.5(TSC2):c.358A>T:p.Arg120Ter	coding	Pathogenic
16	2054322	C	T	C2054322T	TSC2	NM_000548.5(TSC2):c.363C>T:p.Ala121=	coding	Benign/Likely_benign
16	2054358	C	T	C2054358T	TSC2	NM_000548.5(TSC2):c.399C>T:p.Asn133=	coding	Benign
16	2054359	G	T	G2054359T	TSC2	NM_000548.5(TSC2):c.400G>T:p.Glu134Ter	coding	Pathogenic
16	2054370	C	T	C2054370T	TSC2	NM_000548.5(TSC2):c.411C>T:p.His137=	coding	Benign/Likely_benign
16	2054371	G	T	G2054371T	TSC2	NM_000548.5(TSC2):c.412G>T:p.Glu138Ter	coding	Pathogenic
16	2054380	G	T	G2054380T	TSC2	NM_000548.5(TSC2):c.421G>T:p.Glu141Ter	coding	Pathogenic
16	2054390	A	G	A2054390G	TSC2	NM_000548.5(TSC2):c.431A>G:p.Lys144Arg	coding	Benign/Likely_benign
16	2054424	C	T	C2054424T	TSC2	NM_000548.5(TSC2):c.465C>T:p.Tyr155=	coding	Benign/Likely_benign
16	2054434	G	T	G2054434T	TSC2	NM_000548.5(TSC2):c.475G>T:p.Glu159Ter	coding	Pathogenic
16	2054441	G	T	G2054441T	TSC2	NM_000548.5(TSC2):c.481+1G>T	coding	Pathogenic
16	2054445	G	A	G2054445A	TSC2	NM_000548.5(TSC2):c.481+5G>A	noncoding	Pathogenic
16	2054445	G	T	G2054445T	TSC2	NM_000548.5(TSC2):c.481+5G>T	noncoding	Pathogenic
16	2054448	C	T	C2054448T	TSC2	NM_000548.5(TSC2):c.481+8C>T	noncoding	Benign/Likely_benign
16	2055399	C	T	C2055399T	TSC2	NM_000548.5(TSC2):c.482-3C>T	noncoding	Benign
16	2055401	G	A	G2055401A	TSC2	NM_000548.5(TSC2):c.482-1G>A	noncoding	Pathogenic
16	2055416	C	T	C2055416T	TSC2	NM_000548.5(TSC2):c.496C>T:p.Gln166Ter	coding	Pathogenic
16	2055420	G	A	G2055420A	TSC2	NM_000548.5(TSC2):c.500G>A:p.Trp167Ter	coding	Pathogenic
16	2055421	G	A	G2055421A	TSC2	NM_000548.5(TSC2):c.501G>A:p.Trp167Ter	coding	Pathogenic
16	2055487	T	A	T2055487A	TSC2	NM_000548.5(TSC2):c.567T>A:p.Cys189Ter	coding	Pathogenic
16	2055502	C	G	C2055502G	TSC2	NM_000548.5(TSC2):c.582C>G:p.Tyr194Ter	coding	Pathogenic
16	2055503	A	G	A2055503G	TSC2	NM_000548.5(TSC2):c.583A>G:p.Ile195Val	coding	Benign/Likely_benign
16	2055518	C	T	C2055518T	TSC2	NM_000548.5(TSC2):c.598C>T:p.Gln200Ter	coding	Pathogenic
16	2055520	G	A	G2055520A	TSC2	NM_000548.5(TSC2):c.599+1G>A	coding	Pathogenic
16	2055536	G	C	G2055536C	TSC2	NM_000548.5(TSC2):c.599+17G>C	noncoding	Benign
16	2056195	G	A	G2056195A	TSC2	NM_000548.5(TSC2):c.600-1G>A	noncoding	Pathogenic
16	2056224	G	A	G2056224A	TSC2	NM_000548.5(TSC2):c.628G>A:p.Ala210Thr	coding	Benign/Likely_benign
16	2056225	C	T	C2056225T	TSC2	NM_000548.5(TSC2):c.629C>T:p.Ala210Val	coding	Benign/Likely_benign
16	2056226	G	A	G2056226A	TSC2	NM_000548.5(TSC2):c.630G>A:p.Ala210=	coding	Benign/Likely_benign
16	2056242	G	T	G2056242T	TSC2	NM_000548.5(TSC2):c.646G>T:p.Glu216Ter	coding	Pathogenic
16	2056245	G	A	G2056245A	TSC2	NM_000548.5(TSC2):c.648+1G>A	coding	Pathogenic
16	2056253	C	T	C2056253T	TSC2	NM_000548.5(TSC2):c.648+9C>T	noncoding	Benign
16	2056635	C	G	C2056635G	TSC2	NM_000548.5(TSC2):c.649-9C>G	noncoding	Benign
16	2056643	G	C	G2056643C	TSC2	NM_000548.5(TSC2):c.649-1G>C	noncoding	Pathogenic
16	2056652	G	A	G2056652A	TSC2	NM_000548.5(TSC2):c.657G>A:p.Leu219=	coding	Benign/Likely_benign
16	2056653	C	T	C2056653T	TSC2	NM_000548.5(TSC2):c.658C>T:p.Gln220Ter	coding	Pathogenic
16	2056658	G	A	G2056658A	TSC2	NM_000548.5(TSC2):c.663G>A:p.Val221=	coding	Benign/Likely_benign
16	2056664	C	T	C2056664T	TSC2	NM_000548.5(TSC2):c.669C>T:p.Asp223=	coding	Benign/Likely_benign
16	2056667	C	T	C2056667T	TSC2	NM_000548.5(TSC2):c.672C>T:p.Ala224=	coding	Benign/Likely_benign
16	2056691	G	A	G2056691A	TSC2	NM_000548.5(TSC2):c.696G>A:p.Pro232=	coding	Benign/Likely_benign
16	2056699	G	A	G2056699A	TSC2	NM_000548.5(TSC2):c.704G>A:p.Ser235Asn	coding	Benign/Likely_benign
16	2056703	C	T	C2056703T	TSC2	NM_000548.5(TSC2):c.708C>T:p.Leu236=	coding	Benign/Likely_benign
16	2056706	G	A	G2056706A	TSC2	NM_000548.5(TSC2):c.711G>A:p.Pro237=	coding	Benign
16	2056711	T	G	T2056711G	TSC2	NM_000548.5(TSC2):c.716T>G:p.Phe239Cys	coding	Benign/Likely_benign
16	2056715	C	T	C2056715T	TSC2	NM_000548.5(TSC2):c.720C>T:p.Ile240=	coding	Benign/Likely_benign
16	2056716	G	A	G2056716A	TSC2	NM_000548.5(TSC2):c.721G>A:p.Val241Ile	coding	Benign/Likely_benign
16	2056721	C	T	C2056721T	TSC2	NM_000548.5(TSC2):c.726C>T:p.Thr242=	coding	Benign/Likely_benign
16	2056724	C	G	C2056724G	TSC2	NM_000548.5(TSC2):c.729C>G:p.Leu243=	coding	Benign/Likely_benign
16	2056725	T	C	T2056725C	TSC2	NM_000548.5(TSC2):c.730T>C:p.Cys244Arg	coding	Pathogenic
16	2056729	G	A	G2056729A	TSC2	NM_000548.5(TSC2):c.734G>A:p.Arg245His	coding	Benign/Likely_benign
16	2056746	G	T	G2056746T	TSC2	NM_000548.5(TSC2):c.751G>T:p.Glu251Ter	coding	Pathogenic
16	2056753	G	A	G2056753A	TSC2	NM_000548.5(TSC2):c.758G>A:p.Cys253Tyr	coding	Benign
16	2056755	G	A	G2056755A	TSC2	NM_000548.5(TSC2):c.760G>A:p.Glu254Lys	coding	Benign/Likely_benign
16	2056763	C	T	C2056763T	TSC2	NM_000548.5(TSC2):c.768C>T:p.Cys256=	coding	Benign
16	2056770	G	A	G2056770A	TSC2	NM_000548.5(TSC2):c.774+1G>A	coding	Pathogenic
16	2056773	G	A	G2056773A	TSC2	NM_000548.5(TSC2):c.774+4G>A	noncoding	Benign
16	2057101	G	A	G2057101A	TSC2	NM_000548.5(TSC2):c.775-4G>A	noncoding	Benign/Likely_benign
16	2057104	G	C	G2057104C	TSC2	NM_000548.5(TSC2):c.775-1G>C	noncoding	Pathogenic
16	2057111	C	T	C2057111T	TSC2	NM_000548.5(TSC2):c.781C>T:p.Arg261Trp	coding	Benign/Likely_benign
16	2057137	C	T	C2057137T	TSC2	NM_000548.5(TSC2):c.807C>T:p.Gly269=	coding	Benign/Likely_benign
16	2057163	A	G	A2057163G	TSC2	NM_000548.5(TSC2):c.833A>G:p.His278Arg	coding	Benign
16	2057179	G	A	G2057179A	TSC2	NM_000548.5(TSC2):c.848+1G>A	coding	Pathogenic
16	2057180	T	G	T2057180G	TSC2	NM_000548.5(TSC2):c.848+2T>G	noncoding	Pathogenic
16	2057185	G	A	G2057185A	TSC2	NM_000548.5(TSC2):c.848+7G>A	noncoding	Benign
16	2057459	C	T	C2057459T	TSC2	NM_000548.5(TSC2):c.848+281C>T	noncoding	Pathogenic
16	2058746	G	A	G2058746A	TSC2	NM_000548.5(TSC2):c.849-1G>A	noncoding	Pathogenic/Likely_pathogenic
16	2058754	A	G	A2058754G	TSC2	NM_000548.5(TSC2):c.856A>G:p.Met286Val	coding	Benign/Likely_benign
16	2058799	A	G	A2058799G	TSC2	NM_000548.5(TSC2):c.901A>G:p.Met301Val	coding	Benign
16	2058820	C	G	C2058820G	TSC2	NM_000548.5(TSC2):c.922C>G:p.Arg308Gly	coding	Benign
16	2058828	T	A	T2058828A	TSC2	NM_000548.5(TSC2):c.930T>A:p.Tyr310Ter	coding	Pathogenic
16	2058846	G	A	G2058846A	TSC2	NM_000548.5(TSC2):c.948G>A:p.Pro316=	coding	Benign/Likely_benign
16	2058863	C	A	C2058863A	TSC2	NM_000548.5(TSC2):c.965C>A:p.Ser322Ter	coding	Pathogenic
16	2058870	C	A	C2058870A	TSC2	NM_000548.5(TSC2):c.972C>A:p.Tyr324Ter	coding	Pathogenic
16	2058874	G	T	G2058874T	TSC2	NM_000548.5(TSC2):c.975+1G>T	coding	Pathogenic
16	2058881	G	A	G2058881A	TSC2	NM_000548.5(TSC2):c.975+8G>A	noncoding	Benign/Likely_benign
16	2060570	C	G	C2060570G	TSC2	NM_000548.5(TSC2):c.976-100C>G	noncoding	Benign
16	2060607	G	A	G2060607A	TSC2	NM_000548.5(TSC2):c.976-63G>A	noncoding	Benign
16	2060655	G	A	G2060655A	TSC2	NM_000548.5(TSC2):c.976-15G>A	noncoding	Pathogenic
16	2060660	C	T	C2060660T	TSC2	NM_000548.5(TSC2):c.976-10C>T	noncoding	Benign
16	2060667	C	T	C2060667T	TSC2	NM_000548.5(TSC2):c.976-3C>T	noncoding	Benign/Likely_benign
16	2060669	G	A	G2060669A	TSC2	NM_000548.5(TSC2):c.976-1G>A	noncoding	Pathogenic
16	2060684	G	A	G2060684A	TSC2	NM_000548.5(TSC2):c.990G>A:p.Pro330=	coding	Benign/Likely_benign
16	2060688	G	A	G2060688A	TSC2	NM_000548.5(TSC2):c.994G>A:p.Glu332Lys	coding	Benign
16	2060723	C	A	C2060723A	TSC2	NM_000548.5(TSC2):c.1029C>A:p.Thr343=	coding	Benign/Likely_benign
16	2060753	C	T	C2060753T	TSC2	NM_000548.5(TSC2):c.1059C>T:p.Leu353=	coding	Benign/Likely_benign
16	2060754	C	T	C2060754T	TSC2	NM_000548.5(TSC2):c.1060C>T:p.Gln354Ter	coding	Pathogenic
16	2060790	G	T	G2060790T	TSC2	NM_000548.5(TSC2):c.1096G>T:p.Glu366Ter	coding	Pathogenic
16	2060794	G	A	G2060794A	TSC2	NM_000548.5(TSC2):c.1100G>A:p.Arg367Gln	coding	Benign
16	2060802	C	T	C2060802T	TSC2	NM_000548.5(TSC2):c.1108C>T:p.Gln370Ter	coding	Pathogenic
16	2060804	G	A	G2060804A	TSC2	NM_000548.5(TSC2):c.1110G>A:p.Gln370=	coding	Benign
16	2060805	C	T	C2060805T	TSC2	NM_000548.5(TSC2):c.1111C>T:p.Gln371Ter	coding	Pathogenic
16	2060810	C	T	C2060810T	TSC2	NM_000548.5(TSC2):c.1116C>T:p.Leu372=	coding	Benign
16	2060814	G	C	G2060814C	TSC2	NM_000548.5(TSC2):c.1119+1G>C	coding	Pathogenic
16	2060819	G	C	G2060819C	TSC2	NM_000548.5(TSC2):c.1119+6G>C	noncoding	Benign/Likely_benign
16	2060942	G	T	G2060942T	TSC2	NM_000548.5(TSC2):c.1119+129G>T	noncoding	Pathogenic
16	2061778	T	C	T2061778C	TSC2	NM_000548.5(TSC2):c.1120-93T>C	noncoding	Benign
16	2061882	C	T	C2061882T	TSC2	NM_000548.5(TSC2):c.1131C>T:p.Ser377=	coding	Benign/Likely_benign
16	2061921	G	A	G2061921A	TSC2	NM_000548.5(TSC2):c.1170G>A:p.Thr390=	coding	Benign/Likely_benign
16	2061928	G	T	G2061928T	TSC2	NM_000548.5(TSC2):c.1177G>T:p.Glu393Ter	coding	Pathogenic
16	2061945	C	T	C2061945T	TSC2	NM_000548.5(TSC2):c.1194C>T:p.Asn398=	coding	Benign/Likely_benign
16	2061946	G	T	G2061946T	TSC2	NM_000548.5(TSC2):c.1195G>T:p.Glu399Ter	coding	Pathogenic
16	2061954	C	T	C2061954T	TSC2	NM_000548.5(TSC2):c.1203C>T:p.His401=	coding	Benign/Likely_benign
16	2061996	G	A	G2061996A	TSC2	NM_000548.5(TSC2):c.1245G>A:p.Ala415=	coding	Benign/Likely_benign
16	2062000	C	T	C2062000T	TSC2	NM_000548.5(TSC2):c.1249C>T:p.Gln417Ter	coding	Pathogenic
16	2062006	C	T	C2062006T	TSC2	NM_000548.5(TSC2):c.1255C>T:p.Pro419Ser	coding	Pathogenic
16	2062009	G	A	G2062009A	TSC2	NM_000548.5(TSC2):c.1257+1G>A	coding	Pathogenic
16	2062009	G	C	G2062009C	TSC2	NM_000548.5(TSC2):c.1257+1G>C	coding	Pathogenic
16	2062010	T	G	T2062010G	TSC2	NM_000548.5(TSC2):c.1257+2T>G	noncoding	Pathogenic
16	2062022	C	T	C2062022T	TSC2	NM_000548.5(TSC2):c.1257+14C>T	noncoding	Benign
16	2062497	G	T	G2062497T	TSC2	NM_000548.5(TSC2):c.1258G>T:p.Glu420Ter	coding	Pathogenic
16	2062515	C	T	C2062515T	TSC2	NM_000548.5(TSC2):c.1276C>T:p.Leu426=	coding	Benign/Likely_benign
16	2062526	T	A	T2062526A	TSC2	NM_000548.5(TSC2):c.1287T>A:p.Tyr429Ter	coding	Pathogenic
16	2062531	C	T	C2062531T	TSC2	NM_000548.5(TSC2):c.1292C>T:p.Ala431Val	coding	Benign/Likely_benign
16	2062533	C	T	C2062533T	TSC2	NM_000548.5(TSC2):c.1294C>T:p.Gln432Ter	coding	Pathogenic
16	2062547	G	A	G2062547A	TSC2	NM_000548.5(TSC2):c.1308G>A:p.Pro436=	coding	Benign/Likely_benign
16	2062553	G	A	G2062553A	TSC2	NM_000548.5(TSC2):c.1314G>A:p.Lys438=	coding	Benign/Likely_benign
16	2062561	G	A	G2062561A	TSC2	NM_000548.5(TSC2):c.1322G>A:p.Trp441Ter	coding	Pathogenic
16	2062571	C	T	C2062571T	TSC2	NM_000548.5(TSC2):c.1332C>T:p.Asn444=	coding	Benign/Likely_benign
16	2062582	T	C	T2062582C	TSC2	NM_000548.5(TSC2):c.1343T>C:p.Leu448Pro	coding	Pathogenic
16	2062601	G	T	G2062601T	TSC2	NM_000548.5(TSC2):c.1361+1G>T	coding	Pathogenic
16	2062616	T	G	T2062616G	TSC2	NM_000548.5(TSC2):c.1361+16T>G	noncoding	Benign
16	2062618	G	C	G2062618C	TSC2	NM_000548.5(TSC2):c.1361+18G>C	noncoding	Benign
16	2062962	C	T	C2062962T	TSC2	NM_000548.5(TSC2):c.1362-10C>T	noncoding	Benign/Likely_benign
16	2062975	C	T	C2062975T	TSC2	NM_000548.5(TSC2):c.1365C>T:p.Ser455=	coding	Benign/Likely_benign
16	2062976	G	A	G2062976A	TSC2	NM_000548.5(TSC2):c.1366G>A:p.Glu456Lys	coding	Benign/Likely_benign
16	2062982	C	T	C2062982T	TSC2	NM_000548.5(TSC2):c.1372C>T:p.Arg458Ter	coding	Pathogenic
16	2062987	C	T	C2062987T	TSC2	NM_000548.5(TSC2):c.1377C>T:p.Gly459=	coding	Benign/Likely_benign
16	2062988	G	A	G2062988A	TSC2	NM_000548.5(TSC2):c.1378G>A:p.Ala460Thr	coding	Benign/Likely_benign
16	2062997	A	G	A2062997G	TSC2	NM_000548.5(TSC2):c.1387A>G:p.Ile463Val	coding	Benign/Likely_benign
16	2063008	G	A	G2063008A	TSC2	NM_000548.5(TSC2):c.1398G>A:p.Leu466=	coding	Benign/Likely_benign
16	2063042	C	T	C2063042T	TSC2	NM_000548.5(TSC2):c.1432C>T:p.Gln478Ter	coding	Pathogenic
16	2063054	G	T	G2063054T	TSC2	NM_000548.5(TSC2):c.1443+1G>T	coding	Pathogenic
16	2063068	G	A	G2063068A	TSC2	NM_000548.5(TSC2):c.1443+15G>A	noncoding	Benign
16	2063071	C	T	C2063071T	TSC2	NM_000548.5(TSC2):c.1443+18C>T	noncoding	Benign
16	2063309	G	A	G2063309A	TSC2	NM_000548.5(TSC2):c.1443+256G>A	noncoding	Benign
16	2064071	G	A	G2064071A	TSC2	NM_000548.5(TSC2):c.1444-201G>A	noncoding	Benign
16	2064270	A	G	A2064270G	TSC2	NM_000548.5(TSC2):c.1444-2A>G	noncoding	Pathogenic
16	2064275	G	T	G2064275T	TSC2	NM_000548.5(TSC2):c.1447G>T:p.Glu483Ter	coding	Pathogenic
16	2064301	G	A	G2064301A	TSC2	NM_000548.5(TSC2):c.1473G>A:p.Ser491=	coding	Benign/Likely_benign
16	2064302	C	T	C2064302T	TSC2	NM_000548.5(TSC2):c.1474C>T:p.Gln492Ter	coding	Pathogenic
16	2064319	C	T	C2064319T	TSC2	NM_000548.5(TSC2):c.1491C>T:p.Pro497=	coding	Benign/Likely_benign
16	2064322	G	A	G2064322A	TSC2	NM_000548.5(TSC2):c.1494G>A:p.Glu498=	coding	Benign/Likely_benign
16	2064340	C	G	C2064340G	TSC2	NM_000548.5(TSC2):c.1512C>G:p.Val504=	coding	Benign/Likely_benign
16	2064341	C	T	C2064341T	TSC2	NM_000548.5(TSC2):c.1513C>T:p.Arg505Ter	coding	Pathogenic
16	2064371	C	T	C2064371T	TSC2	NM_000548.5(TSC2):c.1543C>T:p.Leu515=	coding	Benign
16	2064377	G	T	G2064377T	TSC2	NM_000548.5(TSC2):c.1549G>T:p.Glu517Ter	coding	Pathogenic
16	2064402	A	G	A2064402G	TSC2	NM_000548.5(TSC2):c.1574A>G:p.Asn525Ser	coding	Benign/Likely_benign
16	2064406	C	T	C2064406T	TSC2	NM_000548.5(TSC2):c.1578C>T:p.Ser526=	coding	Benign
16	2064421	C	T	C2064421T	TSC2	NM_000548.5(TSC2):c.1593C>T:p.Ile531=	coding	Benign/Likely_benign
16	2064428	G	A	G2064428A	TSC2	NM_000548.5(TSC2):c.1599+1G>A	coding	Pathogenic
16	2064429	T	C	T2064429C	TSC2	NM_000548.5(TSC2):c.1599+2T>C	noncoding	Pathogenic
16	2064436	C	T	C2064436T	TSC2	NM_000548.5(TSC2):c.1599+9C>T	noncoding	Benign
16	2064446	G	A	G2064446A	TSC2	NM_000548.5(TSC2):c.1599+19G>A	noncoding	Benign
16	2065480	C	T	C2065480T	TSC2	NM_000548.5(TSC2):c.1600-39C>T	noncoding	Benign
16	2065505	C	T	C2065505T	TSC2	NM_000548.5(TSC2):c.1600-14C>T	noncoding	Benign
16	2065509	C	T	C2065509T	TSC2	NM_000548.5(TSC2):c.1600-10C>T	noncoding	Benign/Likely_benign
16	2065517	A	G	A2065517G	TSC2	NM_000548.5(TSC2):c.1600-2A>G	noncoding	Pathogenic
16	2065528	C	T	C2065528T	TSC2	NM_000548.5(TSC2):c.1609C>T:p.Arg537Cys	coding	Benign/Likely_benign
16	2065545	C	A	C2065545A	TSC2	NM_000548.5(TSC2):c.1626C>A:p.Pro542=	coding	Benign/Likely_benign
16	2065547	C	T	C2065547T	TSC2	NM_000548.5(TSC2):c.1628C>T:p.Pro543Leu	coding	Benign/Likely_benign
16	2065548	G	A	G2065548A	TSC2	NM_000548.5(TSC2):c.1629G>A:p.Pro543=	coding	Benign
16	2065555	G	T	G2065555T	TSC2	NM_000548.5(TSC2):c.1636G>T:p.Glu546Ter	coding	Pathogenic
16	2065561	A	C	A2065561C	TSC2	NM_000548.5(TSC2):c.1642A>C:p.Arg548=	coding	Benign/Likely_benign
16	2065577	A	G	A2065577G	TSC2	NM_000548.5(TSC2):c.1658A>G:p.Tyr553Cys	coding	Benign
16	2065581	G	A	G2065581A	TSC2	NM_000548.5(TSC2):c.1662G>A:p.Ser554=	coding	Benign/Likely_benign
16	2065633	C	T	C2065633T	TSC2	NM_000548.5(TSC2):c.1714C>T:p.Gln572Ter	coding	Pathogenic
16	2065640	G	C	G2065640C	TSC2	NM_000548.5(TSC2):c.1716+5G>C	noncoding	Pathogenic
16	2065818	A	G	A2065818G	TSC2	NM_000548.5(TSC2):c.1716+183A>G	noncoding	Benign
16	2070401	T	C	T2070401C	TSC2	NM_000548.5(TSC2):c.1717-55T>C	noncoding	Benign
16	2070441	G	T	G2070441T	TSC2	NM_000548.5(TSC2):c.1717-15G>T	noncoding	Benign
16	2070454	A	C	A2070454C	TSC2	NM_000548.5(TSC2):c.1717-2A>C	noncoding	Pathogenic
16	2070459	A	T	A2070459T	TSC2	NM_000548.5(TSC2):c.1720A>T:p.Lys574Ter	coding	Pathogenic
16	2070470	C	G	C2070470G	TSC2	NM_000548.5(TSC2):c.1731C>G:p.Thr577=	coding	Benign
16	2070470	C	T	C2070470T	TSC2	NM_000548.5(TSC2):c.1731C>T:p.Thr577=	coding	Benign/Likely_benign
16	2070486	G	A	G2070486A	TSC2	NM_000548.5(TSC2):c.1747G>A:p.Ala583Thr	coding	Benign/Likely_benign
16	2070490	C	T	C2070490T	TSC2	NM_000548.5(TSC2):c.1751C>T:p.Thr584Met	coding	Benign/Likely_benign
16	2070491	G	A	G2070491A	TSC2	NM_000548.5(TSC2):c.1752G>A:p.Thr584=	coding	Benign/Likely_benign
16	2070500	T	G	T2070500G	TSC2	NM_000548.5(TSC2):c.1761T>G:p.Tyr587Ter	coding	Pathogenic
16	2070501	G	T	G2070501T	TSC2	NM_000548.5(TSC2):c.1762G>T:p.Glu588Ter	coding	Pathogenic
16	2070514	G	A	G2070514A	TSC2	NM_000548.5(TSC2):c.1775G>A:p.Ser592Asn	coding	Benign/Likely_benign
16	2070522	C	G	C2070522G	TSC2	NM_000548.5(TSC2):c.1783C>G:p.Gln595Glu	coding	Benign
16	2070522	C	T	C2070522T	TSC2	NM_000548.5(TSC2):c.1783C>T:p.Gln595Ter	coding	Pathogenic
16	2070537	C	T	C2070537T	TSC2	NM_000548.5(TSC2):c.1798C>T:p.His600Tyr	coding	Benign
16	2070545	C	G	C2070545G	TSC2	NM_000548.5(TSC2):c.1806C>G:p.Tyr602Ter	coding	Pathogenic
16	2070558	G	A	G2070558A	TSC2	NM_000548.5(TSC2):c.1819G>A:p.Ala607Thr	coding	Benign/Likely_benign
16	2070560	G	A	G2070560A	TSC2	NM_000548.5(TSC2):c.1821G>A:p.Ala607=	coding	Benign/Likely_benign
16	2070570	C	T	C2070570T	TSC2	NM_000548.5(TSC2):c.1831C>T:p.Arg611Trp	coding	Pathogenic
16	2070571	G	A	G2070571A	TSC2	NM_000548.5(TSC2):c.1832G>A:p.Arg611Gln	coding	Pathogenic
16	2070578	G	C	G2070578C	TSC2	NM_000548.5(TSC2):c.1839G>C:p.Gln613His	coding	Pathogenic
16	2070579	G	T	G2070579T	TSC2	NM_000548.5(TSC2):c.1839+1G>T	coding	Pathogenic
16	2070580	T	C	T2070580C	TSC2	NM_000548.5(TSC2):c.1839+2T>C	noncoding	Pathogenic
16	2070598	G	A	G2070598A	TSC2	NM_000548.5(TSC2):c.1839+20G>A	noncoding	Benign
16	2070598	G	C	G2070598C	TSC2	NM_000548.5(TSC2):c.1839+20G>C	noncoding	Benign
16	2071539	C	T	C2071539T	TSC2	NM_000548.5(TSC2):c.1869C>T:p.Ala623=	coding	Benign/Likely_benign
16	2071555	C	T	C2071555T	TSC2	NM_000548.5(TSC2):c.1885C>T:p.Leu629=	coding	Benign/Likely_benign
16	2071581	C	T	C2071581T	TSC2	NM_000548.5(TSC2):c.1911C>T:p.Val637=	coding	Benign/Likely_benign
16	2071599	C	G	C2071599G	TSC2	NM_000548.5(TSC2):c.1929C>G:p.Tyr643Ter	coding	Pathogenic
16	2071602	C	T	C2071602T	TSC2	NM_000548.5(TSC2):c.1932C>T:p.Cys644=	coding	Benign/Likely_benign
16	2071603	G	A	G2071603A	TSC2	NM_000548.5(TSC2):c.1933G>A:p.Val645Ile	coding	Benign/Likely_benign
16	2071608	C	A	C2071608A	TSC2	NM_000548.5(TSC2):c.1938C>A:p.Cys646Ter	coding	Pathogenic
16	2071609	G	A	G2071609A	TSC2	NM_000548.5(TSC2):c.1939G>A:p.Asp647Asn	coding	Benign/Likely_benign
16	2071616	T	C	T2071616C	TSC2	NM_000548.5(TSC2):c.1946T>C:p.Met649Thr	coding	Benign/Likely_benign
16	2071617	G	A	G2071617A	TSC2	NM_000548.5(TSC2):c.1946+1G>A	coding	Pathogenic
16	2071617	G	T	G2071617T	TSC2	NM_000548.5(TSC2):c.1946+1G>T	coding	Pathogenic
16	2071618	T	A	T2071618A	TSC2	NM_000548.5(TSC2):c.1946+2T>A	noncoding	Pathogenic
16	2071620	C	T	C2071620T	TSC2	NM_000548.5(TSC2):c.1946+4C>T	noncoding	Benign/Likely_benign
16	2071622	C	T	C2071622T	TSC2	NM_000548.5(TSC2):c.1946+6C>T	noncoding	Benign
16	2071623	G	A	G2071623A	TSC2	NM_000548.5(TSC2):c.1946+7G>A	noncoding	Benign/Likely_benign
16	2071775	C	T	C2071775T	TSC2	NM_000548.5(TSC2):c.1947-9C>T	noncoding	Benign
16	2071781	C	T	C2071781T	TSC2	NM_000548.5(TSC2):c.1947-3C>T	noncoding	Benign/Likely_benign
16	2071791	G	T	G2071791T	TSC2	NM_000548.5(TSC2):c.1954G>T:p.Glu652Ter	coding	Pathogenic
16	2071794	A	T	A2071794T	TSC2	NM_000548.5(TSC2):c.1957A>T:p.Arg653Ter	coding	Pathogenic
16	2071853	G	A	G2071853A	TSC2	NM_000548.5(TSC2):c.2016G>A:p.Pro672=	coding	Benign
16	2071855	C	T	C2071855T	TSC2	NM_000548.5(TSC2):c.2018C>T:p.Ala673Val	coding	Benign/Likely_benign
16	2071857	C	T	C2071857T	TSC2	NM_000548.5(TSC2):c.2020C>T:p.Pro674Ser	coding	Benign
16	2071869	G	A	G2071869A	TSC2	NM_000548.5(TSC2):c.2032G>A:p.Ala678Thr	coding	Benign/Likely_benign
16	2071871	C	T	C2071871T	TSC2	NM_000548.5(TSC2):c.2034C>T:p.Ala678=	coding	Benign/Likely_benign
16	2071883	G	A	G2071883A	TSC2	NM_000548.5(TSC2):c.2046G>A:p.Gly682=	coding	Benign/Likely_benign
16	2071886	C	T	C2071886T	TSC2	NM_000548.5(TSC2):c.2049C>T:p.Ser683=	coding	Benign/Likely_benign
16	2071909	G	A	G2071909A	TSC2	NM_000548.5(TSC2):c.2072G>A:p.Arg691His	coding	Benign
16	2071910	C	T	C2071910T	TSC2	NM_000548.5(TSC2):c.2073C>T:p.Arg691=	coding	Benign/Likely_benign
16	2071947	G	A	G2071947A	TSC2	NM_000548.5(TSC2):c.2097+13G>A	noncoding	Benign/Likely_benign
16	2071977	A	G	A2071977G	TSC2	NM_000548.5(TSC2):c.2097+43A>G	noncoding	Benign/Likely_benign
16	2072127	A	G	A2072127G	TSC2	NM_000548.5(TSC2):c.2098-114A>G	noncoding	Benign
16	2072239	A	T	A2072239T	TSC2	NM_000548.5(TSC2):c.2098-2A>T	noncoding	Pathogenic
16	2072240	G	A	G2072240A	TSC2	NM_000548.5(TSC2):c.2098-1G>A	noncoding	Pathogenic
16	2072251	G	A	G2072251A	TSC2	NM_000548.5(TSC2):c.2108G>A:p.Trp703Ter	coding	Pathogenic
16	2072293	T	G	T2072293G	TSC2	NM_000548.5(TSC2):c.2150T>G:p.Leu717Arg	coding	Pathogenic
16	2072337	C	T	C2072337T	TSC2	NM_000548.5(TSC2):c.2194C>T:p.Gln732Ter	coding	Pathogenic
16	2072350	C	T	C2072350T	TSC2	NM_000548.5(TSC2):c.2207C>T:p.Ala736Val	coding	Benign
16	2072354	C	T	C2072354T	TSC2	NM_000548.5(TSC2):c.2211C>T:p.Leu737=	coding	Benign/Likely_benign
16	2072364	G	T	G2072364T	TSC2	NM_000548.5(TSC2):c.2220+1G>T	coding	Pathogenic
16	2072374	C	T	C2072374T	TSC2	NM_000548.5(TSC2):c.2220+11C>T	noncoding	Benign/Likely_benign
16	2072545	C	T	C2072545T	TSC2	NM_000548.5(TSC2):c.2220+182C>T	noncoding	Benign
16	2072821	A	G	A2072821G	TSC2	NM_000548.5(TSC2):c.2221-28A>G	noncoding	Benign
16	2072847	A	G	A2072847G	TSC2	NM_000548.5(TSC2):c.2221-2A>G	noncoding	Pathogenic
16	2072848	G	A	G2072848A	TSC2	NM_000548.5(TSC2):c.2221-1G>A	noncoding	Pathogenic
16	2072867	C	T	C2072867T	TSC2	NM_000548.5(TSC2):c.2239C>T:p.Leu747=	coding	Benign/Likely_benign
16	2072879	C	T	C2072879T	TSC2	NM_000548.5(TSC2):c.2251C>T:p.Arg751Ter	coding	Pathogenic
16	2072884	C	T	C2072884T	TSC2	NM_000548.5(TSC2):c.2256C>T:p.Gly752=	coding	Benign/Likely_benign
16	2072885	G	A	G2072885A	TSC2	NM_000548.5(TSC2):c.2257G>A:p.Ala753Thr	coding	Benign/Likely_benign
16	2072956	C	A	C2072956A	TSC2	NM_000548.5(TSC2):c.2328C>A:p.Tyr776Ter	coding	Pathogenic
16	2072959	T	C	T2072959C	TSC2	NM_000548.5(TSC2):c.2331T>C:p.His777=	coding	Benign/Likely_benign
16	2072976	C	G	C2072976G	TSC2	NM_000548.5(TSC2):c.2348C>G:p.Thr783Ser	coding	Benign/Likely_benign
16	2072978	A	T	A2072978T	TSC2	NM_000548.5(TSC2):c.2350A>T:p.Lys784Ter	coding	Pathogenic
16	2072981	C	T	C2072981T	TSC2	NM_000548.5(TSC2):c.2353C>T:p.Gln785Ter	coding	Pathogenic
16	2072984	G	A	G2072984A	TSC2	NM_000548.5(TSC2):c.2355+1G>A	coding	Pathogenic
16	2072985	T	C	T2072985C	TSC2	NM_000548.5(TSC2):c.2355+2T>C	noncoding	Pathogenic
16	2072985	T	G	T2072985G	TSC2	NM_000548.5(TSC2):c.2355+2T>G	noncoding	Pathogenic
16	2074185	T	A	T2074185A	TSC2	NM_000548.5(TSC2):c.2356-15T>A	noncoding	Benign/Likely_benign
16	2074198	A	C	A2074198C	TSC2	NM_000548.5(TSC2):c.2356-2A>C	noncoding	Pathogenic
16	2074199	G	A	G2074199A	TSC2	NM_000548.5(TSC2):c.2356-1G>A	noncoding	Pathogenic
16	2074199	G	C	G2074199C	TSC2	NM_000548.5(TSC2):c.2356-1G>C	noncoding	Pathogenic
16	2074199	G	T	G2074199T	TSC2	NM_000548.5(TSC2):c.2356-1G>T	noncoding	Pathogenic
16	2074208	G	A	G2074208A	TSC2	NM_000548.5(TSC2):c.2364G>A:p.Met788Ile	coding	Benign
16	2074221	G	T	G2074221T	TSC2	NM_000548.5(TSC2):c.2377G>T:p.Glu793Ter	coding	Pathogenic
16	2074236	C	T	C2074236T	TSC2	NM_000548.5(TSC2):c.2392C>T:p.His798Tyr	coding	Benign/Likely_benign
16	2074248	A	G	A2074248G	TSC2	NM_000548.5(TSC2):c.2404A>G:p.Ser802Gly	coding	Benign/Likely_benign
16	2074251	C	T	C2074251T	TSC2	NM_000548.5(TSC2):c.2407C>T:p.Gln803Ter	coding	Pathogenic
16	2074254	T	C	T2074254C	TSC2	NM_000548.5(TSC2):c.2410T>C:p.Cys804Arg	coding	Pathogenic/Likely_pathogenic
16	2074271	C	T	C2074271T	TSC2	NM_000548.5(TSC2):c.2427C>T:p.Ser809=	coding	Benign/Likely_benign
16	2074280	C	T	C2074280T	TSC2	NM_000548.5(TSC2):c.2436C>T:p.Ser812=	coding	Benign/Likely_benign
16	2074284	G	T	G2074284T	TSC2	NM_000548.5(TSC2):c.2440G>T:p.Glu814Ter	coding	Pathogenic
16	2074295	C	T	C2074295T	TSC2	NM_000548.5(TSC2):c.2451C>T:p.Asp817=	coding	Benign/Likely_benign
16	2074301	C	T	C2074301T	TSC2	NM_000548.5(TSC2):c.2457C>T:p.Ile819=	coding	Benign
16	2074345	C	G	C2074345G	TSC2	NM_000548.5(TSC2):c.2501C>G:p.Ser834Ter	coding	Pathogenic
16	2074355	C	G	C2074355G	TSC2	NM_000548.5(TSC2):c.2511C>G:p.Ala837=	coding	Benign/Likely_benign
16	2074415	G	A	G2074415A	TSC2	NM_000548.5(TSC2):c.2545+26G>A	noncoding	Benign/Likely_benign
16	2074546	G	C	G2074546C	TSC2	NM_000548.5(TSC2):c.2545+157G>C	noncoding	Benign
16	2075768	G	A	G2075768A	TSC2	NM_000548.5(TSC2):c.2546-31G>A	noncoding	Benign
16	2075787	C	T	C2075787T	TSC2	NM_000548.5(TSC2):c.2546-12C>T	noncoding	Benign
16	2075789	A	G	A2075789G	TSC2	NM_000548.5(TSC2):c.2546-10A>G	noncoding	Benign/Likely_benign
16	2075797	A	G	A2075797G	TSC2	NM_000548.5(TSC2):c.2546-2A>G	noncoding	Pathogenic
16	2075798	G	A	G2075798A	TSC2	NM_000548.5(TSC2):c.2546-1G>A	noncoding	Pathogenic
16	2075802	T	C	T2075802C	TSC2	NM_000548.5(TSC2):c.2549T>C:p.Leu850Pro	coding	Pathogenic
16	2075815	G	A	G2075815A	TSC2	NM_000548.5(TSC2):c.2562G>A:p.Pro854=	coding	Benign/Likely_benign
16	2075818	C	T	C2075818T	TSC2	NM_000548.5(TSC2):c.2565C>T:p.His855=	coding	Benign/Likely_benign
16	2075833	T	C	T2075833C	TSC2	NM_000548.5(TSC2):c.2580T>C:p.Phe860=	coding	Benign
16	2075836	C	T	C2075836T	TSC2	NM_000548.5(TSC2):c.2583C>T:p.Ala861=	coding	Benign/Likely_benign
16	2075839	G	A	G2075839A	TSC2	NM_000548.5(TSC2):c.2586G>A:p.Ala862=	coding	Benign/Likely_benign
16	2075843	C	T	C2075843T	TSC2	NM_000548.5(TSC2):c.2590C>T:p.Gln864Ter	coding	Pathogenic
16	2075869	C	T	C2075869T	TSC2	NM_000548.5(TSC2):c.2616C>T:p.Ser872=	coding	Benign/Likely_benign
16	2075875	G	A	G2075875A	TSC2	NM_000548.5(TSC2):c.2622G>A:p.Pro874=	coding	Benign/Likely_benign
16	2075875	G	T	G2075875T	TSC2	NM_000548.5(TSC2):c.2622G>T:p.Pro874=	coding	Benign/Likely_benign
16	2075881	C	T	C2075881T	TSC2	NM_000548.5(TSC2):c.2628C>T:p.Thr876=	coding	Benign/Likely_benign
16	2075893	G	A	G2075893A	TSC2	NM_000548.5(TSC2):c.2639+1G>A	coding	Pathogenic
16	2075893	G	C	G2075893C	TSC2	NM_000548.5(TSC2):c.2639+1G>C	coding	Pathogenic
16	2075936	C	G	C2075936G	TSC2	NM_000548.5(TSC2):c.2639+44C>G	noncoding	Benign
16	2076055	C	T	C2076055T	TSC2	NM_000548.5(TSC2):c.2640-13C>T	noncoding	Benign/Likely_benign
16	2076066	A	G	A2076066G	TSC2	NM_000548.5(TSC2):c.2640-2A>G	noncoding	Pathogenic
16	2076067	G	A	G2076067A	TSC2	NM_000548.5(TSC2):c.2640-1G>A	noncoding	Pathogenic
16	2076101	C	T	C2076101T	TSC2	NM_000548.5(TSC2):c.2673C>T:p.His891=	coding	Benign/Likely_benign
16	2076116	G	A	G2076116A	TSC2	NM_000548.5(TSC2):c.2688G>A:p.Trp896Ter	coding	Pathogenic
16	2076118	T	C	T2076118C	TSC2	NM_000548.5(TSC2):c.2690T>C:p.Phe897Ser	coding	Pathogenic
16	2076128	C	A	C2076128A	TSC2	NM_000548.5(TSC2):c.2700C>A:p.Cys900Ter	coding	Pathogenic
16	2076141	C	G	C2076141G	TSC2	NM_000548.5(TSC2):c.2713C>G:p.Arg905Gly	coding	Pathogenic
16	2076141	C	T	C2076141T	TSC2	NM_000548.5(TSC2):c.2713C>T:p.Arg905Trp	coding	Pathogenic
16	2076142	G	A	G2076142A	TSC2	NM_000548.5(TSC2):c.2714G>A:p.Arg905Gln	coding	Pathogenic
16	2076174	G	A	G2076174A	TSC2	NM_000548.5(TSC2):c.2742+4G>A	noncoding	Benign/Likely_benign
16	2076176	C	T	C2076176T	TSC2	NM_000548.5(TSC2):c.2742+6C>T	noncoding	Benign/Likely_benign
16	2076451	A	G	A2076451G	TSC2	NM_000548.5(TSC2):c.2743-40A>G	noncoding	Benign
16	2076472	G	A	G2076472A	TSC2	NM_000548.5(TSC2):c.2743-19G>A	noncoding	Benign
16	2076482	C	T	C2076482T	TSC2	NM_000548.5(TSC2):c.2743-9C>T	noncoding	Benign/Likely_benign
16	2076484	C	G	C2076484G	TSC2	NM_000548.5(TSC2):c.2743-7C>G	noncoding	Benign/Likely_benign
16	2076488	C	A	C2076488A	TSC2	NM_000548.5(TSC2):c.2743-3C>A	noncoding	Benign/Likely_benign
16	2076490	G	A	G2076490A	TSC2	NM_000548.5(TSC2):c.2743-1G>A	noncoding	Pathogenic
16	2076498	G	A	G2076498A	TSC2	NM_000548.5(TSC2):c.2750G>A:p.Arg917Gln	coding	Benign/Likely_benign
16	2076507	T	C	T2076507C	TSC2	NM_000548.5(TSC2):c.2759T>C:p.Val920Ala	coding	Benign
16	2076508	C	T	C2076508T	TSC2	NM_000548.5(TSC2):c.2760C>T:p.Val920=	coding	Benign/Likely_benign
16	2076526	C	T	C2076526T	TSC2	NM_000548.5(TSC2):c.2778C>T:p.Asp926=	coding	Benign/Likely_benign
16	2076529	C	T	C2076529T	TSC2	NM_000548.5(TSC2):c.2781C>T:p.Thr927=	coding	Benign/Likely_benign
16	2076532	C	T	C2076532T	TSC2	NM_000548.5(TSC2):c.2784C>T:p.Pro928=	coding	Benign/Likely_benign
16	2076536	A	G	A2076536G	TSC2	NM_000548.5(TSC2):c.2788A>G:p.Lys930Glu	coding	Benign
16	2076572	G	T	G2076572T	TSC2	NM_000548.5(TSC2):c.2824G>T:p.Glu942Ter	coding	Pathogenic
16	2076575	A	T	A2076575T	TSC2	NM_000548.5(TSC2):c.2827A>T:p.Arg943Ter	coding	Pathogenic
16	2077226	C	T	C2077226T	TSC2	NM_000548.5(TSC2):c.2838-372C>T	noncoding	Benign
16	2077316	A	C	A2077316C	TSC2	NM_000548.5(TSC2):c.2838-282A>C	noncoding	Benign
16	2077476	G	A	G2077476A	TSC2	NM_000548.5(TSC2):c.2838-122G>A	noncoding	Pathogenic
16	2077594	A	G	A2077594G	TSC2	NM_000548.5(TSC2):c.2838-4A>G	noncoding	Benign/Likely_benign
16	2077614	C	T	C2077614T	TSC2	NM_000548.5(TSC2):c.2854C>T:p.Pro952Ser	coding	Benign
16	2077633	A	G	A2077633G	TSC2	NM_000548.5(TSC2):c.2873A>G:p.Asn958Ser	coding	Benign/Likely_benign
16	2077721	C	G	C2077721G	TSC2	NM_000548.5(TSC2):c.2961C>G:p.Val987=	coding	Benign/Likely_benign
16	2077723	G	A	G2077723A	TSC2	NM_000548.5(TSC2):c.2963G>A:p.Arg988His	coding	Benign
16	2077723	G	C	G2077723C	TSC2	NM_000548.5(TSC2):c.2963G>C:p.Arg988Pro	coding	Benign/Likely_benign
16	2077847	C	G	C2077847G	TSC2	NM_000548.5(TSC2):c.2966+121C>G	noncoding	Benign
16	2078914	T	C	T2078914C	TSC2	NM_000548.5(TSC2):c.2967-118T>C	noncoding	Benign
16	2079026	C	T	C2079026T	TSC2	NM_000548.5(TSC2):c.2967-6C>T	noncoding	Benign/Likely_benign
16	2079043	C	T	C2079043T	TSC2	NM_000548.5(TSC2):c.2978C>T:p.Thr993Met	coding	Benign/Likely_benign
16	2079044	G	A	G2079044A	TSC2	NM_000548.5(TSC2):c.2979G>A:p.Thr993=	coding	Benign/Likely_benign
16	2079083	C	T	C2079083T	TSC2	NM_000548.5(TSC2):c.3018C>T:p.Asn1006=	coding	Benign/Likely_benign
16	2079087	G	A	G2079087A	TSC2	NM_000548.5(TSC2):c.3022G>A:p.Val1008Met	coding	Benign
16	2079101	C	T	C2079101T	TSC2	NM_000548.5(TSC2):c.3036C>T:p.Asp1012=	coding	Benign/Likely_benign
16	2079134	G	A	G2079134A	TSC2	NM_000548.5(TSC2):c.3069G>A:p.Thr1023=	coding	Benign/Likely_benign
16	2079159	C	T	C2079159T	TSC2	NM_000548.5(TSC2):c.3094C>T:p.Arg1032Ter	coding	Pathogenic
16	2079160	G	C	G2079160C	TSC2	NM_000548.5(TSC2):c.3095G>C:p.Arg1032Pro	coding	Pathogenic/Likely_pathogenic
16	2079164	C	A	C2079164A	TSC2	NM_000548.5(TSC2):c.3099C>A:p.Tyr1033Ter	coding	Pathogenic
16	2079164	C	T	C2079164T	TSC2	NM_000548.5(TSC2):c.3099C>T:p.Tyr1033=	coding	Benign/Likely_benign
16	2079167	C	G	C2079167G	TSC2	NM_000548.5(TSC2):c.3102C>G:p.Val1034=	coding	Benign/Likely_benign
16	2079191	G	A	G2079191A	TSC2	NM_000548.5(TSC2):c.3126G>A:p.Pro1042=	coding	Benign/Likely_benign
16	2079191	G	C	G2079191C	TSC2	NM_000548.5(TSC2):c.3126G>C:p.Pro1042=	coding	Benign
16	2079191	G	T	G2079191T	TSC2	NM_000548.5(TSC2):c.3126G>T:p.Pro1042=	coding	Benign/Likely_benign
16	2079197	G	A	G2079197A	TSC2	NM_000548.5(TSC2):c.3131+1G>A	coding	Pathogenic
16	2079198	T	A	T2079198A	TSC2	NM_000548.5(TSC2):c.3131+2T>A	noncoding	Pathogenic
16	2079275	G	T	G2079275T	TSC2	NM_000548.5(TSC2):c.3132-1G>T	noncoding	Pathogenic
16	2079289	G	T	G2079289T	TSC2	NM_000548.5(TSC2):c.3145G>T:p.Glu1049Ter	coding	Pathogenic
16	2079303	G	A	G2079303A	TSC2	NM_000548.5(TSC2):c.3159G>A:p.Ala1053=	coding	Benign/Likely_benign
16	2079324	G	A	G2079324A	TSC2	NM_000548.5(TSC2):c.3180G>A:p.Trp1060Ter	coding	Pathogenic
16	2079325	C	T	C2079325T	TSC2	NM_000548.5(TSC2):c.3181C>T:p.Leu1061=	coding	Benign
16	2079369	C	T	C2079369T	TSC2	NM_000548.5(TSC2):c.3225C>T:p.Thr1075=	coding	Benign/Likely_benign
16	2079377	G	A	G2079377A	TSC2	NM_000548.5(TSC2):c.3233G>A:p.Arg1078Gln	coding	Benign
16	2079380	C	A	C2079380A	TSC2	NM_000548.5(TSC2):c.3236C>A:p.Ser1079Ter	coding	Pathogenic
16	2079383	T	A	T2079383A	TSC2	NM_000548.5(TSC2):c.3239T>A:p.Leu1080Ter	coding	Pathogenic
16	2079403	G	T	G2079403T	TSC2	NM_000548.5(TSC2):c.3259G>T:p.Glu1087Ter	coding	Pathogenic
16	2079419	C	T	C2079419T	TSC2	NM_000548.5(TSC2):c.3275C>T:p.Pro1092Leu	coding	Benign/Likely_benign
16	2079425	C	A	C2079425A	TSC2	NM_000548.5(TSC2):c.3281C>A:p.Ser1094Ter	coding	Pathogenic
16	2079425	C	T	C2079425T	TSC2	NM_000548.5(TSC2):c.3281C>T:p.Ser1094Leu	coding	Benign/Likely_benign
16	2079428	G	A	G2079428A	TSC2	NM_000548.5(TSC2):c.3284G>A:p.Ser1095Asn	coding	Pathogenic
16	2079429	G	A	G2079429A	TSC2	NM_000548.5(TSC2):c.3284+1G>A	coding	Pathogenic/Likely_pathogenic
16	2079453	C	T	C2079453T	TSC2	NM_000548.5(TSC2):c.3284+25C>T	noncoding	Benign
16	2079567	G	A	G2079567A	TSC2	NM_000548.5(TSC2):c.3295G>A:p.Gly1099Arg	coding	Benign/Likely_benign
16	2079582	C	T	C2079582T	TSC2	NM_000548.5(TSC2):c.3310C>T:p.Gln1104Ter	coding	Pathogenic
16	2079599	G	A	G2079599A	TSC2	NM_000548.5(TSC2):c.3327G>A:p.Pro1109=	coding	Benign/Likely_benign
16	2079605	G	A	G2079605A	TSC2	NM_000548.5(TSC2):c.3333G>A:p.Lys1111=	coding	Benign/Likely_benign
16	2079615	C	T	C2079615T	TSC2	NM_000548.5(TSC2):c.3343C>T:p.Gln1115Ter	coding	Pathogenic
16	2079627	C	T	C2079627T	TSC2	NM_000548.5(TSC2):c.3355C>T:p.Gln1119Ter	coding	Pathogenic
16	2079667	C	A	C2079667A	TSC2	NM_000548.5(TSC2):c.3395C>A:p.Ser1132Ter	coding	Pathogenic
16	2079670	G	A	G2079670A	TSC2	NM_000548.5(TSC2):c.3397+1G>A	coding	Pathogenic
16	2079674	G	A	G2079674A	TSC2	NM_000548.5(TSC2):c.3397+5G>A	noncoding	Pathogenic
16	2079795	C	T	C2079795T	TSC2	NM_000548.5(TSC2):c.3397+126C>T	noncoding	Benign
16	2080025	C	T	C2080025T	TSC2	NM_000548.5(TSC2):c.3398-140C>T	noncoding	Benign
16	2080156	C	T	C2080156T	TSC2	NM_000548.5(TSC2):c.3398-9C>T	noncoding	Benign
16	2080179	C	T	C2080179T	TSC2	NM_000548.5(TSC2):c.3412C>T:p.Arg1138Ter	coding	Pathogenic
16	2080180	G	A	G2080180A	TSC2	NM_000548.5(TSC2):c.3413G>A:p.Arg1138Gln	coding	Benign/Likely_benign
16	2080187	C	T	C2080187T	TSC2	NM_000548.5(TSC2):c.3420C>T:p.Gly1140=	coding	Benign/Likely_benign
16	2080188	G	A	G2080188A	TSC2	NM_000548.5(TSC2):c.3421G>A:p.Ala1141Thr	coding	Benign/Likely_benign
16	2080189	C	T	C2080189T	TSC2	NM_000548.5(TSC2):c.3422C>T:p.Ala1141Val	coding	Benign
16	2080209	C	T	C2080209T	TSC2	NM_000548.5(TSC2):c.3442C>T:p.Gln1148Ter	coding	Pathogenic
16	2080235	A	G	A2080235G	TSC2	NM_000548.5(TSC2):c.3468A>G:p.Pro1156=	coding	Benign/Likely_benign
16	2080242	C	T	C2080242T	TSC2	NM_000548.5(TSC2):c.3475C>T:p.Arg1159Trp	coding	Benign/Likely_benign
16	2080243	G	T	G2080243T	TSC2	NM_000548.5(TSC2):c.3476G>T:p.Arg1159Leu	coding	Benign/Likely_benign
16	2080249	C	T	C2080249T	TSC2	NM_000548.5(TSC2):c.3482C>T:p.Ala1161Val	coding	Benign
16	2080257	G	A	G2080257A	TSC2	NM_000548.5(TSC2):c.3490G>A:p.Ala1164Thr	coding	Benign
16	2080257	G	T	G2080257T	TSC2	NM_000548.5(TSC2):c.3490G>T:p.Ala1164Ser	coding	Benign/Likely_benign
16	2080258	C	T	C2080258T	TSC2	NM_000548.5(TSC2):c.3491C>T:p.Ala1164Val	coding	Benign/Likely_benign
16	2080288	G	A	G2080288A	TSC2	NM_000548.5(TSC2):c.3521G>A:p.Arg1174Gln	coding	Benign/Likely_benign
16	2080299	C	T	C2080299T	TSC2	NM_000548.5(TSC2):c.3532C>T:p.Gln1178Ter	coding	Pathogenic
16	2080319	G	A	G2080319A	TSC2	NM_000548.5(TSC2):c.3552G>A:p.Ala1184=	coding	Benign/Likely_benign
16	2080322	C	T	C2080322T	TSC2	NM_000548.5(TSC2):c.3555C>T:p.Ala1185=	coding	Benign/Likely_benign
16	2080325	T	G	T2080325G	TSC2	NM_000548.5(TSC2):c.3558T>G:p.Tyr1186Ter	coding	Pathogenic
16	2080352	G	A	G2080352A	TSC2	NM_000548.5(TSC2):c.3585G>A:p.Ala1195=	coding	Benign/Likely_benign
16	2080353	G	T	G2080353T	TSC2	NM_000548.5(TSC2):c.3586G>T:p.Glu1196Ter	coding	Pathogenic
16	2080365	C	T	C2080365T	TSC2	NM_000548.5(TSC2):c.3598C>T:p.Arg1200Trp	coding	Pathogenic
16	2080378	G	A	G2080378A	TSC2	NM_000548.5(TSC2):c.3610+1G>A	coding	Pathogenic
16	2080378	G	C	G2080378C	TSC2	NM_000548.5(TSC2):c.3610+1G>C	coding	Pathogenic
16	2080386	C	T	C2080386T	TSC2	NM_000548.5(TSC2):c.3610+9C>T	noncoding	Benign/Likely_benign
16	2080387	G	A	G2080387A	TSC2	NM_000548.5(TSC2):c.3610+10G>A	noncoding	Benign
16	2081585	G	A	G2081585A	TSC2	NM_000548.5(TSC2):c.3611-10G>A	noncoding	Benign
16	2081590	C	T	C2081590T	TSC2	NM_000548.5(TSC2):c.3611-5C>T	noncoding	Benign/Likely_benign
16	2081607	G	A	G2081607A	TSC2	NM_000548.5(TSC2):c.3623G>A:p.Trp1208Ter	coding	Pathogenic
16	2081608	G	A	G2081608A	TSC2	NM_000548.5(TSC2):c.3624G>A:p.Trp1208Ter	coding	Pathogenic
16	2081646	C	A	C2081646A	TSC2	NM_000548.5(TSC2):c.3662C>A:p.Ser1221Ter	coding	Pathogenic
16	2081647	G	A	G2081647A	TSC2	NM_000548.5(TSC2):c.3663G>A:p.Ser1221=	coding	Benign/Likely_benign
16	2081665	C	A	C2081665A	TSC2	NM_000548.5(TSC2):c.3681C>A:p.Pro1227=	coding	Benign/Likely_benign
16	2081669	C	T	C2081669T	TSC2	NM_000548.5(TSC2):c.3685C>T:p.Gln1229Ter	coding	Pathogenic
16	2081683	C	T	C2081683T	TSC2	NM_000548.5(TSC2):c.3699C>T:p.Asn1233=	coding	Benign/Likely_benign
16	2081695	G	A	G2081695A	TSC2	NM_000548.5(TSC2):c.3711G>A:p.Ala1237=	coding	Benign/Likely_benign
16	2081711	G	T	G2081711T	TSC2	NM_000548.5(TSC2):c.3727G>T:p.Glu1243Ter	coding	Pathogenic
16	2081728	C	T	C2081728T	TSC2	NM_000548.5(TSC2):c.3744C>T:p.Ala1248=	coding	Benign/Likely_benign
16	2081731	G	A	G2081731A	TSC2	NM_000548.5(TSC2):c.3747G>A:p.Leu1249=	coding	Benign/Likely_benign
16	2081734	C	A	C2081734A	TSC2	NM_000548.5(TSC2):c.3750C>A:p.Tyr1250Ter	coding	Pathogenic
16	2081734	C	G	C2081734G	TSC2	NM_000548.5(TSC2):c.3750C>G:p.Tyr1250Ter	coding	Pathogenic
16	2081746	G	A	G2081746A	TSC2	NM_000548.5(TSC2):c.3762G>A:p.Ser1254=	coding	Benign/Likely_benign
16	2081754	C	T	C2081754T	TSC2	NM_000548.5(TSC2):c.3770C>T:p.Ala1257Val	coding	Benign/Likely_benign
16	2082416	C	T	C2082416T	TSC2	NM_000548.5(TSC2):c.3815-20C>T	noncoding	Benign/Likely_benign
16	2082421	G	A	G2082421A	TSC2	NM_000548.5(TSC2):c.3815-15G>A	noncoding	Benign/Likely_benign
16	2082448	C	T	C2082448T	TSC2	NM_000548.5(TSC2):c.3827C>T:p.Ser1276Phe	coding	Benign
16	2082453	C	T	C2082453T	TSC2	NM_000548.5(TSC2):c.3832C>T:p.Leu1278=	coding	Benign/Likely_benign
16	2082467	C	G	C2082467G	TSC2	NM_000548.5(TSC2):c.3846C>G:p.Ser1282Arg	coding	Benign
16	2082471	C	T	C2082471T	TSC2	NM_000548.5(TSC2):c.3850C>T:p.Gln1284Ter	coding	Benign/Likely_benign
16	2082491	C	T	C2082491T	TSC2	NM_000548.5(TSC2):c.3870C>T:p.Ser1290=	coding	Benign
16	2082492	G	A	G2082492A	TSC2	NM_000548.5(TSC2):c.3871G>A:p.Val1291Ile	coding	Benign/Likely_benign
16	2082510	G	A	G2082510A	TSC2	NM_000548.5(TSC2):c.3883+6G>A	noncoding	Benign/Likely_benign
16	2082512	C	G	C2082512G	TSC2	NM_000548.5(TSC2):c.3883+8C>G	noncoding	Benign
16	2083658	A	T	A2083658T	TSC2	NM_000548.5(TSC2):c.3884-37A>T	noncoding	Benign
16	2083678	C	G	C2083678G	TSC2	NM_000548.5(TSC2):c.3884-17C>G	noncoding	Benign/Likely_benign
16	2083694	G	C	G2083694C	TSC2	NM_000548.5(TSC2):c.3884-1G>C	noncoding	Pathogenic
16	2083699	C	T	C2083699T	TSC2	NM_000548.5(TSC2):c.3888C>T:p.Ser1296=	coding	Benign/Likely_benign
16	2083702	C	T	C2083702T	TSC2	NM_000548.5(TSC2):c.3891C>T:p.Ala1297=	coding	Benign/Likely_benign
16	2083703	G	A	G2083703A	TSC2	NM_000548.5(TSC2):c.3892G>A:p.Val1298Met	coding	Benign/Likely_benign
16	2083715	G	T	G2083715T	TSC2	NM_000548.5(TSC2):c.3904G>T:p.Glu1302Ter	coding	Pathogenic
16	2083725	C	T	C2083725T	TSC2	NM_000548.5(TSC2):c.3914C>T:p.Pro1305Leu	coding	Benign/Likely_benign
16	2083726	G	A	G2083726A	TSC2	NM_000548.5(TSC2):c.3915G>A:p.Pro1305=	coding	Benign
16	2083753	C	T	C2083753T	TSC2	NM_000548.5(TSC2):c.3942C>T:p.Pro1314=	coding	Benign/Likely_benign
16	2083763	G	T	G2083763T	TSC2	NM_000548.5(TSC2):c.3952G>T:p.Glu1318Ter	coding	Pathogenic
16	2083768	C	T	C2083768T	TSC2	NM_000548.5(TSC2):c.3957C>T:p.Asp1319=	coding	Benign/Likely_benign
16	2083780	G	A	G2083780A	TSC2	NM_000548.5(TSC2):c.3969G>A:p.Ala1323=	coding	Benign/Likely_benign
16	2083792	C	T	C2083792T	TSC2	NM_000548.5(TSC2):c.3981C>T:p.Asp1327=	coding	Benign/Likely_benign
16	2083797	G	A	G2083797A	TSC2	NM_000548.5(TSC2):c.3986G>A:p.Arg1329His	coding	Benign/Likely_benign
16	2083801	G	A	G2083801A	TSC2	NM_000548.5(TSC2):c.3990G>A:p.Thr1330=	coding	Benign/Likely_benign
16	2083807	C	T	C2083807T	TSC2	NM_000548.5(TSC2):c.3996C>T:p.Ala1332=	coding	Benign/Likely_benign
16	2083810	C	A	C2083810A	TSC2	NM_000548.5(TSC2):c.3999C>A:p.Tyr1333Ter	coding	Pathogenic
16	2083817	G	A	G2083817A	TSC2	NM_000548.5(TSC2):c.4005+1G>A	coding	Pathogenic
16	2083817	G	T	G2083817T	TSC2	NM_000548.5(TSC2):c.4005+1G>T	coding	Pathogenic
16	2084220	C	T	C2084220T	TSC2	NM_000548.5(TSC2):c.4006-8C>T	noncoding	Benign/Likely_benign
16	2084224	C	G	C2084224G	TSC2	NM_000548.5(TSC2):c.4006-4C>G	noncoding	Benign
16	2084226	A	T	A2084226T	TSC2	NM_000548.5(TSC2):c.4006-2A>T	noncoding	Pathogenic
16	2084227	G	A	G2084227A	TSC2	NM_000548.5(TSC2):c.4006-1G>A	noncoding	Pathogenic
16	2084230	G	A	G2084230A	TSC2	NM_000548.5(TSC2):c.4008G>A:p.Ser1336=	coding	Benign/Likely_benign
16	2084245	C	A	C2084245A	TSC2	NM_000548.5(TSC2):c.4023C>A:p.Ser1341Arg	coding	Benign/Likely_benign
16	2084252	G	T	G2084252T	TSC2	NM_000548.5(TSC2):c.4030G>T:p.Glu1344Ter	coding	Pathogenic
16	2084260	G	A	G2084260A	TSC2	NM_000548.5(TSC2):c.4038G>A:p.Ser1346=	coding	Benign/Likely_benign
16	2084269	G	A	G2084269A	TSC2	NM_000548.5(TSC2):c.4047G>A:p.Ala1349=	coding	Benign/Likely_benign
16	2084273	G	T	G2084273T	TSC2	NM_000548.5(TSC2):c.4051G>T:p.Glu1351Ter	coding	Pathogenic
16	2084303	C	T	C2084303T	TSC2	NM_000548.5(TSC2):c.4081C>T:p.Arg1361Ter	coding	Pathogenic
16	2084317	G	A	G2084317A	TSC2	NM_000548.5(TSC2):c.4095G>A:p.Ser1365=	coding	Benign/Likely_benign
16	2084318	G	T	G2084318T	TSC2	NM_000548.5(TSC2):c.4096G>T:p.Glu1366Ter	coding	Pathogenic
16	2084329	G	A	G2084329A	TSC2	NM_000548.5(TSC2):c.4107G>A:p.Arg1369=	coding	Benign/Likely_benign
16	2084329	G	C	G2084329C	TSC2	NM_000548.5(TSC2):c.4107G>C:p.Arg1369=	coding	Benign/Likely_benign
16	2084330	C	T	C2084330T	TSC2	NM_000548.5(TSC2):c.4108C>T:p.Pro1370Ser	coding	Benign/Likely_benign
16	2084360	C	T	C2084360T	TSC2	NM_000548.5(TSC2):c.4138C>T:p.Gln1380Ter	coding	Pathogenic
16	2084396	C	T	C2084396T	TSC2	NM_000548.5(TSC2):c.4174C>T:p.Gln1392Ter	coding	Pathogenic
16	2084405	C	T	C2084405T	TSC2	NM_000548.5(TSC2):c.4183C>T:p.Gln1395Ter	coding	Pathogenic
16	2084417	G	A	G2084417A	TSC2	NM_000548.5(TSC2):c.4195G>A:p.Gly1399Arg	coding	Benign/Likely_benign
16	2084423	C	G	C2084423G	TSC2	NM_000548.5(TSC2):c.4201C>G:p.Pro1401Ala	coding	Benign
16	2084437	C	T	C2084437T	TSC2	NM_000548.5(TSC2):c.4215C>T:p.Ala1405=	coding	Benign/Likely_benign
16	2084477	C	T	C2084477T	TSC2	NM_000548.5(TSC2):c.4255C>T:p.Gln1419Ter	coding	Pathogenic
16	2084491	G	A	G2084491A	TSC2	NM_000548.5(TSC2):c.4269G>A:p.Leu1423=	coding	Benign/Likely_benign
16	2084494	C	T	C2084494T	TSC2	NM_000548.5(TSC2):c.4272C>T:p.Asp1424=	coding	Benign/Likely_benign
16	2084495	G	C	G2084495C	TSC2	NM_000548.5(TSC2):c.4273G>C:p.Gly1425Arg	coding	Benign
16	2084507	G	T	G2084507T	TSC2	NM_000548.5(TSC2):c.4285G>T:p.Ala1429Ser	coding	Benign/Likely_benign
16	2084514	C	T	C2084514T	TSC2	NM_000548.5(TSC2):c.4292C>T:p.Ser1431Leu	coding	Benign
16	2084515	G	A	G2084515A	TSC2	NM_000548.5(TSC2):c.4293G>A:p.Ser1431=	coding	Benign/Likely_benign
16	2084520	C	A	C2084520A	TSC2	NM_000548.5(TSC2):c.4298C>A:p.Ser1433Ter	coding	Pathogenic
16	2084520	C	T	C2084520T	TSC2	NM_000548.5(TSC2):c.4298C>T:p.Ser1433Leu	coding	Benign/Likely_benign
16	2084521	G	A	G2084521A	TSC2	NM_000548.5(TSC2):c.4299G>A:p.Ser1433=	coding	Benign/Likely_benign
16	2084524	C	T	C2084524T	TSC2	NM_000548.5(TSC2):c.4302C>T:p.Gly1434=	coding	Benign/Likely_benign
16	2084525	G	T	G2084525T	TSC2	NM_000548.5(TSC2):c.4303G>T:p.Glu1435Ter	coding	Pathogenic
16	2084538	G	A	G2084538A	TSC2	NM_000548.5(TSC2):c.4316G>A:p.Gly1439Asp	coding	Benign/Likely_benign
16	2084540	C	T	C2084540T	TSC2	NM_000548.5(TSC2):c.4318C>T:p.Gln1440Ter	coding	Pathogenic
16	2084546	G	A	G2084546A	TSC2	NM_000548.5(TSC2):c.4324G>A:p.Glu1442Lys	coding	Benign/Likely_benign
16	2084546	G	T	G2084546T	TSC2	NM_000548.5(TSC2):c.4324G>T:p.Glu1442Ter	coding	Pathogenic
16	2084578	G	A	G2084578A	TSC2	NM_000548.5(TSC2):c.4356G>A:p.Ser1452=	coding	Benign/Likely_benign
16	2084597	C	T	C2084597T	TSC2	NM_000548.5(TSC2):c.4375C>T:p.Arg1459Ter	coding	Pathogenic
16	2084614	C	T	C2084614T	TSC2	NM_000548.5(TSC2):c.4392C>T:p.Ser1464=	coding	Benign/Likely_benign
16	2084620	G	A	G2084620A	TSC2	NM_000548.5(TSC2):c.4398G>A:p.Ser1466=	coding	Benign/Likely_benign
16	2084632	C	T	C2084632T	TSC2	NM_000548.5(TSC2):c.4410C>T:p.Arg1470=	coding	Benign/Likely_benign
16	2084656	C	T	C2084656T	TSC2	NM_000548.5(TSC2):c.4434C>T:p.Asp1478=	coding	Benign/Likely_benign
16	2084680	C	T	C2084680T	TSC2	NM_000548.5(TSC2):c.4458C>T:p.Ala1486=	coding	Benign/Likely_benign
16	2084691	A	G	A2084691G	TSC2	NM_000548.5(TSC2):c.4469A>G:p.Glu1490Gly	coding	Benign/Likely_benign
16	2084716	G	A	G2084716A	TSC2	NM_000548.5(TSC2):c.4493+1G>A	coding	Pathogenic
16	2084732	C	T	C2084732T	TSC2	NM_000548.5(TSC2):c.4493+17C>T	noncoding	Benign/Likely_benign
16	2084733	G	A	G2084733A	TSC2	NM_000548.5(TSC2):c.4493+18G>A	noncoding	Benign
16	2084954	C	T	C2084954T	TSC2	NM_000548.5(TSC2):c.4497C>T:p.Phe1499=	coding	Benign
16	2084964	C	T	C2084964T	TSC2	NM_000548.5(TSC2):c.4507C>T:p.Gln1503Ter	coding	Pathogenic
16	2084965	A	C	A2084965C	TSC2	NM_000548.5(TSC2):c.4508A>C:p.Gln1503Pro	coding	Pathogenic/Likely_pathogenic
16	2084969	C	G	C2084969G	TSC2	NM_000548.5(TSC2):c.4512C>G:p.Leu1504=	coding	Benign/Likely_benign
16	2084990	C	T	C2084990T	TSC2	NM_000548.5(TSC2):c.4533C>T:p.Gly1511=	coding	Benign/Likely_benign
16	2084993	C	T	C2084993T	TSC2	NM_000548.5(TSC2):c.4536C>T:p.Asp1512=	coding	Benign/Likely_benign
16	2084998	C	G	C2084998G	TSC2	NM_000548.5(TSC2):c.4541C>G:p.Ser1514Ter	coding	Pathogenic
16	2085015	C	T	C2085015T	TSC2	NM_000548.5(TSC2):c.4558C>T:p.Leu1520=	coding	Benign/Likely_benign
16	2085022	A	G	A2085022G	TSC2	NM_000548.5(TSC2):c.4565A>G:p.Asn1522Ser	coding	Benign/Likely_benign
16	2085030	G	A	G2085030A	TSC2	NM_000548.5(TSC2):c.4569+4G>A	noncoding	Benign
16	2085072	C	T	C2085072T	TSC2	NM_000548.5(TSC2):c.4569+46C>T	noncoding	Benign/Likely_benign
16	2085073	G	A	G2085073A	TSC2	NM_000548.5(TSC2):c.4569+47G>A	noncoding	Benign
16	2085164	G	A	G2085164A	TSC2	NM_000548.5(TSC2):c.4570-66G>A	noncoding	Benign
16	2085231	C	A	C2085231A	TSC2	NM_000548.5(TSC2):c.4571C>A:p.Ser1524Ter	coding	Pathogenic
16	2085231	C	G	C2085231G	TSC2	NM_000548.5(TSC2):c.4571C>G:p.Ser1524Ter	coding	Pathogenic
16	2085233	C	T	C2085233T	TSC2	NM_000548.5(TSC2):c.4573C>T:p.Gln1525Ter	coding	Pathogenic
16	2085254	C	T	C2085254T	TSC2	NM_000548.5(TSC2):c.4594C>T:p.Gln1532Ter	coding	Pathogenic
16	2085262	C	T	C2085262T	TSC2	NM_000548.5(TSC2):c.4602C>T:p.Leu1534=	coding	Benign/Likely_benign
16	2085270	T	C	T2085270C	TSC2	NM_000548.5(TSC2):c.4610T>C:p.Ile1537Thr	coding	Benign
16	2085277	A	G	A2085277G	TSC2	NM_000548.5(TSC2):c.4617A>G:p.Ser1539=	coding	Benign/Likely_benign
16	2085280	C	G	C2085280G	TSC2	NM_000548.5(TSC2):c.4620C>G:p.Tyr1540Ter	coding	Pathogenic
16	2085280	C	T	C2085280T	TSC2	NM_000548.5(TSC2):c.4620C>T:p.Tyr1540=	coding	Benign/Likely_benign
16	2085293	A	G	A2085293G	TSC2	NM_000548.5(TSC2):c.4633A>G:p.Ile1545Val	coding	Benign
16	2085298	C	T	C2085298T	TSC2	NM_000548.5(TSC2):c.4638C>T:p.Ala1546=	coding	Benign/Likely_benign
16	2085306	A	G	A2085306G	TSC2	NM_000548.5(TSC2):c.4646A>G:p.Tyr1549Cys	coding	Pathogenic/Likely_pathogenic
16	2085320	C	T	C2085320T	TSC2	NM_000548.5(TSC2):c.4660C>T:p.Gln1554Ter	coding	Pathogenic
16	2085322	G	A	G2085322A	TSC2	NM_000548.5(TSC2):c.4662G>A:p.Gln1554=	coding	Pathogenic
16	2085322	G	T	G2085322T	TSC2	NM_000548.5(TSC2):c.4662G>T:p.Gln1554His	coding	Pathogenic
16	2085323	G	A	G2085323A	TSC2	NM_000548.5(TSC2):c.4662+1G>A	coding	Pathogenic
16	2085332	C	T	C2085332T	TSC2	NM_000548.5(TSC2):c.4662+10C>T	noncoding	Benign
16	2086186	C	T	C2086186T	TSC2	NM_000548.5(TSC2):c.4663-7C>T	noncoding	Benign
16	2086192	G	T	G2086192T	TSC2	NM_000548.5(TSC2):c.4663-1G>T	noncoding	Pathogenic
16	2086202	G	T	G2086202T	TSC2	NM_000548.5(TSC2):c.4672G>T:p.Glu1558Ter	coding	Pathogenic
16	2086207	C	T	C2086207T	TSC2	NM_000548.5(TSC2):c.4677C>T:p.Leu1559=	coding	Benign/Likely_benign
16	2086210	C	T	C2086210T	TSC2	NM_000548.5(TSC2):c.4680C>T:p.Ala1560=	coding	Benign/Likely_benign
16	2086213	C	T	C2086213T	TSC2	NM_000548.5(TSC2):c.4683C>T:p.Ile1561=	coding	Benign/Likely_benign
16	2086246	G	A	G2086246A	TSC2	NM_000548.5(TSC2):c.4716G>A:p.Thr1572=	coding	Benign
16	2086246	G	C	G2086246C	TSC2	NM_000548.5(TSC2):c.4716G>C:p.Thr1572=	coding	Benign/Likely_benign
16	2086249	G	A	G2086249A	TSC2	NM_000548.5(TSC2):c.4719G>A:p.Glu1573=	coding	Benign/Likely_benign
16	2086252	C	T	C2086252T	TSC2	NM_000548.5(TSC2):c.4722C>T:p.Phe1574=	coding	Benign
16	2086292	C	T	C2086292T	TSC2	NM_000548.5(TSC2):c.4762C>T:p.Gln1588Ter	coding	Pathogenic
16	2086297	G	A	G2086297A	TSC2	NM_000548.5(TSC2):c.4767G>A:p.Pro1589=	coding	Benign/Likely_benign
16	2086324	C	T	C2086324T	TSC2	NM_000548.5(TSC2):c.4794C>T:p.Asp1598=	coding	Benign/Likely_benign
16	2086339	C	T	C2086339T	TSC2	NM_000548.5(TSC2):c.4809C>T:p.Asp1603=	coding	Benign/Likely_benign
16	2086343	C	T	C2086343T	TSC2	NM_000548.5(TSC2):c.4813C>T:p.Gln1605Ter	coding	Pathogenic
16	2086359	G	A	G2086359A	TSC2	NM_000548.5(TSC2):c.4829G>A:p.Trp1610Ter	coding	Pathogenic
16	2086360	G	A	G2086360A	TSC2	NM_000548.5(TSC2):c.4830G>A:p.Trp1610Ter	coding	Pathogenic
16	2086376	C	T	C2086376T	TSC2	NM_000548.5(TSC2):c.4846C>T:p.Gln1616Ter	coding	Pathogenic
16	2086383	C	T	C2086383T	TSC2	NM_000548.5(TSC2):c.4849+4C>T	noncoding	Benign/Likely_benign
16	2086392	G	A	G2086392A	TSC2	NM_000548.5(TSC2):c.4849+13G>A	noncoding	Benign/Likely_benign
16	2086623	T	C	T2086623C	TSC2	NM_000548.5(TSC2):c.4850-109T>C	noncoding	Benign
16	2086730	A	G	A2086730G	TSC2	NM_000548.5(TSC2):c.4850-2A>G	noncoding	Pathogenic
16	2086733	C	T	C2086733T	TSC2	NM_000548.5(TSC2):c.4851C>T:p.Ala1617=	coding	Benign/Likely_benign
16	2086734	G	A	G2086734A	TSC2	NM_000548.5(TSC2):c.4852G>A:p.Val1618Ile	coding	Benign/Likely_benign
16	2086751	C	T	C2086751T	TSC2	NM_000548.5(TSC2):c.4869C>T:p.Thr1623=	coding	Benign/Likely_benign
16	2086787	C	T	C2086787T	TSC2	NM_000548.5(TSC2):c.4905C>T:p.Cys1635=	coding	Benign/Likely_benign
16	2086790	C	T	C2086790T	TSC2	NM_000548.5(TSC2):c.4908C>T:p.Asp1636=	coding	Benign/Likely_benign
16	2086800	C	T	C2086800T	TSC2	NM_000548.5(TSC2):c.4918C>T:p.His1640Tyr	coding	Pathogenic
16	2086809	A	C	A2086809C	TSC2	NM_000548.5(TSC2):c.4927A>C:p.Asn1643His	coding	Pathogenic
16	2086811	C	T	C2086811T	TSC2	NM_000548.5(TSC2):c.4929C>T:p.Asn1643=	coding	Benign/Likely_benign
16	2086818	G	A	G2086818A	TSC2	NM_000548.5(TSC2):c.4936G>A:p.Val1646Met	coding	Pathogenic
16	2086834	A	G	A2086834G	TSC2	NM_000548.5(TSC2):c.4952A>G:p.Asn1651Ser	coding	Pathogenic
16	2086839	T	C	T2086839C	TSC2	NM_000548.5(TSC2):c.4957T>C:p.Ser1653Pro	coding	Pathogenic
16	2086841	C	T	C2086841T	TSC2	NM_000548.5(TSC2):c.4959C>T:p.Ser1653=	coding	Benign
16	2086850	C	T	C2086850T	TSC2	NM_000548.5(TSC2):c.4968C>T:p.Asp1656=	coding	Benign/Likely_benign
16	2086865	C	T	C2086865T	TSC2	NM_000548.5(TSC2):c.4983C>T:p.Thr1661=	coding	Benign
16	2086872	G	A	G2086872A	TSC2	NM_000548.5(TSC2):c.4989+1G>A	coding	Pathogenic
16	2086978	A	C	A2086978C	TSC2	NM_000548.5(TSC2):c.4989+107A>C	noncoding	Benign
16	2087856	C	G	C2087856G	TSC2	NM_000548.5(TSC2):c.4990-7C>G	noncoding	Benign
16	2087856	C	T	C2087856T	TSC2	NM_000548.5(TSC2):c.4990-7C>T	noncoding	Benign
16	2087862	G	A	G2087862A	TSC2	NM_000548.5(TSC2):c.4990-1G>A	noncoding	Pathogenic
16	2087866	C	T	C2087866T	TSC2	NM_000548.5(TSC2):c.4993C>T:p.Gln1665Ter	coding	Pathogenic
16	2087889	C	T	C2087889T	TSC2	NM_000548.5(TSC2):c.5016C>T:p.Ile1672=	coding	Benign/Likely_benign
16	2087890	G	A	G2087890A	TSC2	NM_000548.5(TSC2):c.5017G>A:p.Val1673Ile	coding	Benign/Likely_benign
16	2087890	G	C	G2087890C	TSC2	NM_000548.5(TSC2):c.5017G>C:p.Val1673Leu	coding	Benign/Likely_benign
16	2087891	T	G	T2087891G	TSC2	NM_000548.5(TSC2):c.5018T>G:p.Val1673Gly	coding	Pathogenic
16	2087897	C	A	C2087897A	TSC2	NM_000548.5(TSC2):c.5024C>A:p.Pro1675Gln	coding	Pathogenic/Likely_pathogenic
16	2087897	C	T	C2087897T	TSC2	NM_000548.5(TSC2):c.5024C>T:p.Pro1675Leu	coding	Pathogenic
16	2087898	G	A	G2087898A	TSC2	NM_000548.5(TSC2):c.5025G>A:p.Pro1675=	coding	Benign/Likely_benign
16	2087901	G	A	G2087901A	TSC2	NM_000548.5(TSC2):c.5028G>A:p.Leu1676=	coding	Benign/Likely_benign
16	2087904	C	T	C2087904T	TSC2	NM_000548.5(TSC2):c.5031C>T:p.Asp1677=	coding	Benign
16	2087907	C	G	C2087907G	TSC2	NM_000548.5(TSC2):c.5034C>G:p.Tyr1678Ter	coding	Pathogenic
16	2087907	C	T	C2087907T	TSC2	NM_000548.5(TSC2):c.5034C>T:p.Tyr1678=	coding	Benign/Likely_benign
16	2087913	C	T	C2087913T	TSC2	NM_000548.5(TSC2):c.5040C>T:p.Cys1680=	coding	Benign/Likely_benign
16	2087929	C	T	C2087929T	TSC2	NM_000548.5(TSC2):c.5056C>T:p.Gln1686Ter	coding	Pathogenic
16	2087941	G	T	G2087941T	TSC2	NM_000548.5(TSC2):c.5068G>T:p.Asp1690Tyr	coding	Pathogenic
16	2087942	G	A	G2087942A	TSC2	NM_000548.5(TSC2):c.5068+1G>A	coding	Pathogenic
16	2087942	G	T	G2087942T	TSC2	NM_000548.5(TSC2):c.5068+1G>T	coding	Pathogenic
16	2087943	T	C	T2087943C	TSC2	NM_000548.5(TSC2):c.5068+2T>C	noncoding	Pathogenic
16	2088040	C	T	C2088040T	TSC2	NM_000548.5(TSC2):c.5069-8C>T	noncoding	Benign
16	2088046	A	C	A2088046C	TSC2	NM_000548.5(TSC2):c.5069-2A>C	noncoding	Pathogenic
16	2088046	A	G	A2088046G	TSC2	NM_000548.5(TSC2):c.5069-2A>G	noncoding	Pathogenic
16	2088073	C	A	C2088073A	TSC2	NM_000548.5(TSC2):c.5094C>A:p.Ser1698Arg	coding	Benign/Likely_benign
16	2088073	C	T	C2088073T	TSC2	NM_000548.5(TSC2):c.5094C>T:p.Ser1698=	coding	Benign/Likely_benign
16	2088074	G	A	G2088074A	TSC2	NM_000548.5(TSC2):c.5095G>A:p.Val1699Met	coding	Benign/Likely_benign
16	2088076	G	C	G2088076C	TSC2	NM_000548.5(TSC2):c.5097G>C:p.Val1699=	coding	Benign/Likely_benign
16	2088085	C	A	C2088085A	TSC2	NM_000548.5(TSC2):c.5106C>A:p.Ile1702=	coding	Benign/Likely_benign
16	2088085	C	T	C2088085T	TSC2	NM_000548.5(TSC2):c.5106C>T:p.Ile1702=	coding	Benign/Likely_benign
16	2088099	A	G	A2088099G	TSC2	NM_000548.5(TSC2):c.5120A>G:p.Asn1707Ser	coding	Benign/Likely_benign
16	2088105	C	G	C2088105G	TSC2	NM_000548.5(TSC2):c.5126C>G:p.Pro1709Arg	coding	Pathogenic
16	2088105	C	T	C2088105T	TSC2	NM_000548.5(TSC2):c.5126C>T:p.Pro1709Leu	coding	Pathogenic
16	2088109	C	T	C2088109T	TSC2	NM_000548.5(TSC2):c.5130C>T:p.Phe1710=	coding	Benign/Likely_benign
16	2088110	G	A	G2088110A	TSC2	NM_000548.5(TSC2):c.5131G>A:p.Val1711Met	coding	Benign/Likely_benign
16	2088117	G	A	G2088117A	TSC2	NM_000548.5(TSC2):c.5138G>A:p.Arg1713His	coding	Pathogenic
16	2088119	C	T	C2088119T	TSC2	NM_000548.5(TSC2):c.5140C>T:p.Gln1714Ter	coding	Pathogenic
16	2088121	G	A	G2088121A	TSC2	NM_000548.5(TSC2):c.5142G>A:p.Gln1714=	coding	Benign/Likely_benign
16	2088129	T	C	T2088129C	TSC2	NM_000548.5(TSC2):c.5150T>C:p.Leu1717Pro	coding	Pathogenic
16	2088133	C	T	C2088133T	TSC2	NM_000548.5(TSC2):c.5154C>T:p.His1718=	coding	Benign/Likely_benign
16	2088140	G	A	G2088140A	TSC2	NM_000548.5(TSC2):c.5160+1G>A	coding	Pathogenic
16	2088140	G	T	G2088140T	TSC2	NM_000548.5(TSC2):c.5160+1G>T	coding	Pathogenic
16	2088141	T	C	T2088141C	TSC2	NM_000548.5(TSC2):c.5160+2T>C	noncoding	Pathogenic
16	2088143	A	C	A2088143C	TSC2	NM_000548.5(TSC2):c.5160+4A>C	noncoding	Pathogenic
16	2088217	A	C	A2088217C	TSC2	NM_000548.5(TSC2):c.5161-10A>C	noncoding	Benign
16	2088218	C	T	C2088218T	TSC2	NM_000548.5(TSC2):c.5161-9C>T	noncoding	Benign
16	2088219	G	A	G2088219A	TSC2	NM_000548.5(TSC2):c.5161-8G>A	noncoding	Benign
16	2088225	A	G	A2088225G	TSC2	NM_000548.5(TSC2):c.5161-2A>G	noncoding	Pathogenic
16	2088226	G	A	G2088226A	TSC2	NM_000548.5(TSC2):c.5161-1G>A	noncoding	Pathogenic
16	2088234	C	G	C2088234G	TSC2	NM_000548.5(TSC2):c.5168C>G:p.Ser1723Ter	coding	Pathogenic
16	2088236	C	T	C2088236T	TSC2	NM_000548.5(TSC2):c.5170C>T:p.Gln1724Ter	coding	Pathogenic
16	2088251	C	T	C2088251T	TSC2	NM_000548.5(TSC2):c.5185C>T:p.Arg1729Cys	coding	Benign/Likely_benign
16	2088265	C	T	C2088265T	TSC2	NM_000548.5(TSC2):c.5199C>T:p.Thr1733=	coding	Benign/Likely_benign
16	2088268	T	C	T2088268C	TSC2	NM_000548.5(TSC2):c.5202T>C:p.Asp1734=	coding	Benign
16	2088269	A	G	A2088269G	TSC2	NM_000548.5(TSC2):c.5203A>G:p.Ile1735Val	coding	Benign/Likely_benign
16	2088274	C	T	C2088274T	TSC2	NM_000548.5(TSC2):c.5208C>T:p.Tyr1736=	coding	Benign/Likely_benign
16	2088285	G	A	G2088285A	TSC2	NM_000548.5(TSC2):c.5219G>A:p.Trp1740Ter	coding	Pathogenic
16	2088286	G	A	G2088286A	TSC2	NM_000548.5(TSC2):c.5220G>A:p.Trp1740Ter	coding	Pathogenic
16	2088293	C	T	C2088293T	TSC2	NM_000548.5(TSC2):c.5227C>T:p.Arg1743Trp	coding	Pathogenic
16	2088294	G	A	G2088294A	TSC2	NM_000548.5(TSC2):c.5228G>A:p.Arg1743Gln	coding	Pathogenic
16	2088310	G	A	G2088310A	TSC2	NM_000548.5(TSC2):c.5244G>A:p.Lys1748=	coding	Benign/Likely_benign
16	2088320	C	T	C2088320T	TSC2	NM_000548.5(TSC2):c.5254C>T:p.Gln1752Ter	coding	Pathogenic
16	2088397	C	T	C2088397T	TSC2	NM_000548.5(TSC2):c.5260-49C>T	noncoding	Benign
16	2088421	C	G	C2088421G	TSC2	NM_000548.5(TSC2):c.5260-25C>G	noncoding	Benign
16	2088431	C	T	C2088431T	TSC2	NM_000548.5(TSC2):c.5260-15C>T	noncoding	Benign/Likely_benign
16	2088434	C	T	C2088434T	TSC2	NM_000548.5(TSC2):c.5260-12C>T	noncoding	Benign/Likely_benign
16	2088451	C	T	C2088451T	TSC2	NM_000548.5(TSC2):c.5265C>T:p.Cys1755=	coding	Benign/Likely_benign
16	2088460	C	T	C2088460T	TSC2	NM_000548.5(TSC2):c.5274C>T:p.Ala1758=	coding	Benign/Likely_benign
16	2088461	G	A	G2088461A	TSC2	NM_000548.5(TSC2):c.5275G>A:p.Ala1759Thr	coding	Benign/Likely_benign
16	2088475	C	T	C2088475T	TSC2	NM_000548.5(TSC2):c.5289C>T:p.Pro1763=	coding	Benign/Likely_benign
16	2088478	C	T	C2088478T	TSC2	NM_000548.5(TSC2):c.5292C>T:p.Ser1764=	coding	Benign/Likely_benign
16	2088499	G	A	G2088499A	TSC2	NM_000548.5(TSC2):c.5313G>A:p.Pro1771=	coding	Benign/Likely_benign
16	2088505	T	C	T2088505C	TSC2	NM_000548.5(TSC2):c.5319T>C:p.His1773=	coding	Benign/Likely_benign
16	2088506	A	G	A2088506G	TSC2	NM_000548.5(TSC2):c.5320A>G:p.Ser1774Gly	coding	Benign
16	2088507	G	C	G2088507C	TSC2	NM_000548.5(TSC2):c.5321G>C:p.Ser1774Thr	coding	Benign/Likely_benign
16	2088520	A	G	A2088520G	TSC2	NM_000548.5(TSC2):c.5334A>G:p.Ala1778=	coding	Benign/Likely_benign
16	2088524	A	C	A2088524C	TSC2	NM_000548.5(TSC2):c.5338A>C:p.Thr1780Pro	coding	Benign/Likely_benign
16	2088532	C	T	C2088532T	TSC2	NM_000548.5(TSC2):c.5346C>T:p.Ala1782=	coding	Benign/Likely_benign
16	2088543	C	G	C2088543G	TSC2	NM_000548.5(TSC2):c.5357C>G:p.Pro1786Arg	coding	Benign/Likely_benign
16	2088545	G	A	G2088545A	TSC2	NM_000548.5(TSC2):c.5359G>A:p.Gly1787Ser	coding	Benign/Likely_benign
16	2088554	G	A	G2088554A	TSC2	NM_000548.5(TSC2):c.5368G>A:p.Val1790Met	coding	Benign/Likely_benign
16	2088583	G	A	G2088583A	TSC2	NM_000548.5(TSC2):c.5397G>A:p.Ser1799=	coding	Benign/Likely_benign
16	2088583	G	C	G2088583C	TSC2	NM_000548.5(TSC2):c.5397G>C:p.Ser1799=	coding	Benign
16	2088598	C	T	C2088598T	TSC2	NM_000548.5(TSC2):c.5412C>T:p.Thr1804=	coding	Benign
16	2088636	G	A	G2088636A	TSC2	NM_000548.5(TSC2):c.*26G>A	noncoding	Benign
16	2088645	G	A	G2088645A	TSC2	NM_000548.5(TSC2):c.*35G>A	noncoding	Benign/Likely_benign
16	2088681	C	T	C2088681T	TSC2	NM_000548.5(TSC2):c.*71C>T	noncoding	Benign
16	2089712	C	T	C2089712T	PKD1	NM_001009944.3(PKD1):c.*15G>A	noncoding	Benign/Likely_benign
16	2089823	G	A	G2089823A	PKD1	NM_001009944.3(PKD1):c.12816C>T:p.Ser4272=	coding	Benign
16	2089870	C	T	C2089870T	PKD1	NM_001009944.3(PKD1):c.12769G>A:p.Gly4257Arg	coding	Benign/Likely_benign
16	2089874	G	A	G2089874A	PKD1	NM_001009944.3(PKD1):c.12765C>T:p.Pro4255=	coding	Benign/Likely_benign
16	2089927	G	A	G2089927A	PKD1	NM_001009944.3(PKD1):c.12712C>T:p.Gln4238Ter	coding	Pathogenic/Likely_pathogenic
16	2089948	G	A	G2089948A	PKD1	NM_001009944.3(PKD1):c.12691C>T:p.Gln4231Ter	coding	Pathogenic/Likely_pathogenic
16	2089957	G	A	G2089957A	PKD1	NM_001009944.3(PKD1):c.12682C>T:p.Arg4228Ter	coding	Pathogenic
16	2089966	G	A	G2089966A	PKD1	NM_001009944.3(PKD1):c.12673C>T:p.Gln4225Ter	coding	Pathogenic
16	2090009	A	G	A2090009G	PKD1	NM_001009944.3(PKD1):c.12630T>C:p.Pro4210=	coding	Benign
16	2090174	A	C	A2090174C	PKD1	NM_001009944.3(PKD1):c.12465T>G:p.Phe4155Leu	coding	Pathogenic/Likely_pathogenic
16	2090191	G	A	G2090191A	PKD1	NM_001009944.3(PKD1):c.12448C>T:p.Arg4150Cys	coding	Pathogenic
16	2090196	T	G	T2090196G	PKD1	NM_001009944.3(PKD1):c.12445-2A>C	coding	Pathogenic
16	2090284	C	T	C2090284T	PKD1	NM_001009944.3(PKD1):c.12444+1G>A	coding	Pathogenic
16	2090293	C	T	C2090293T	PKD1	NM_001009944.3(PKD1):c.12436G>A:p.Val4146Ile	coding	Benign/Likely_benign
16	2090309	C	T	C2090309T	PKD1	NM_001009944.3(PKD1):c.12420G>A:p.Trp4140Ter	coding	Pathogenic
16	2090320	G	A	G2090320A	PKD1	NM_001009944.3(PKD1):c.12409C>T:p.Leu4137=	coding	Benign
16	2090338	C	A	C2090338A	PKD1	NM_001009944.3(PKD1):c.12391G>T:p.Glu4131Ter	coding	Pathogenic
16	2090348	G	C	G2090348C	PKD1	NM_001009944.3(PKD1):c.12381C>G:p.Tyr4127Ter	coding	Pathogenic
16	2090364	C	T	C2090364T	PKD1	NM_001009944.3(PKD1):c.12365G>A:p.Trp4122Ter	coding	Pathogenic
16	2090375	G	T	G2090375T	PKD1	NM_001009944.3(PKD1):c.12354C>A:p.Tyr4118Ter	coding	Pathogenic
16	2090453	T	C	T2090453C	PKD1	NM_001009944.3(PKD1):c.12276A>G:p.Ala4092=	coding	Benign
16	2090468	A	T	A2090468T	PKD1	NM_001009944.3(PKD1):c.12261T>A:p.Cys4087Ter	coding	Pathogenic
16	2090553	G	A	G2090553A	PKD1	NM_001009944.3(PKD1):c.12176C>T:p.Ala4059Val	coding	Benign
16	2090592	T	G	T2090592G	PKD1	NM_001009944.3(PKD1):c.12139-2A>C	noncoding	Pathogenic
16	2090595	G	A	G2090595A	PKD1	NM_001009944.3(PKD1):c.12139-5C>T	noncoding	Benign/Likely_benign
16	2090613	G	T	G2090613T	PKD1	NM_001009944.3(PKD1):c.12139-23C>A	noncoding	Benign
16	2090679	T	C	T2090679C	PKD1	NM_001009944.3(PKD1):c.12133A>G:p.Ile4045Val	coding	Benign
16	2090688	G	A	G2090688A	PKD1	NM_001009944.3(PKD1):c.12124C>T:p.Gln4042Ter	coding	Pathogenic
16	2090737	C	T	C2090737T	PKD1	NM_001009944.3(PKD1):c.12075G>A:p.Glu4025=	coding	Benign
16	2090751	G	A	G2090751A	PKD1	NM_001009944.3(PKD1):c.12061C>T:p.Arg4021Ter	coding	Pathogenic
16	2090776	C	T	C2090776T	PKD1	NM_001009944.3(PKD1):c.12036G>A:p.Trp4012Ter	coding	Pathogenic
16	2090777	C	T	C2090777T	PKD1	NM_001009944.3(PKD1):c.12035G>A:p.Trp4012Ter	coding	Pathogenic
16	2090781	G	A	G2090781A	PKD1	NM_001009944.3(PKD1):c.12031C>T:p.Gln4011Ter	coding	Pathogenic
16	2090802	G	A	G2090802A	PKD1	NM_001009944.3(PKD1):c.12010C>T:p.Gln4004Ter	coding	Pathogenic
16	2090842	G	T	G2090842T	PKD1	NM_001009944.3(PKD1):c.12004-34C>A	noncoding	Benign
16	2090887	G	C	G2090887C	PKD1	NM_001009944.3(PKD1):c.12000C>G:p.Val4000=	coding	Benign
16	2090911	G	C	G2090911C	PKD1	NM_001009944.3(PKD1):c.11976C>G:p.Ala3992=	coding	Benign/Likely_benign
16	2090926	G	A	G2090926A	PKD1	NM_001009944.3(PKD1):c.11961C>T:p.Ala3987=	coding	Benign
16	2090943	G	A	G2090943A	PKD1	NM_001009944.3(PKD1):c.11944C>T:p.Gln3982Ter	coding	Pathogenic
16	2090953	G	A	G2090953A	PKD1	NM_001009944.3(PKD1):c.11934C>T:p.Asp3978=	coding	Benign
16	2090971	G	A	G2090971A	PKD1	NM_001009944.3(PKD1):c.11916C>T:p.Arg3972=	coding	Benign
16	2090971	G	C	G2090971C	PKD1	NM_001009944.3(PKD1):c.11916C>G:p.Arg3972=	coding	Benign
16	2091104	C	T	C2091104T	PKD1	NM_001009944.3(PKD1):c.11783G>A:p.Trp3928Ter	coding	Pathogenic
16	2091135	C	A	C2091135A	PKD1	NM_001009944.3(PKD1):c.11752G>T:p.Glu3918Ter	coding	Pathogenic
16	2091170	C	A	C2091170A	PKD1	NM_001009944.3(PKD1):c.11717G>T:p.Cys3906Phe	coding	Benign/Likely_benign
16	2091175	C	T	C2091175T	PKD1	NM_001009944.3(PKD1):c.11713-1G>A	coding	Pathogenic
16	2091176	T	C	T2091176C	PKD1	NM_001009944.3(PKD1):c.11713-2A>G	noncoding	Pathogenic
16	2091203	A	T	A2091203T	PKD1	NM_001009944.3(PKD1):c.11713-29T>A	noncoding	Benign
16	2091205	G	A	G2091205A	PKD1	NM_001009944.3(PKD1):c.11713-31C>T	noncoding	Benign
16	2091442	G	T	G2091442T	PKD1	NM_001009944.3(PKD1):c.11693C>A:p.Ser3898Ter	coding	Pathogenic
16	2091453	G	A	G2091453A	PKD1	NM_001009944.3(PKD1):c.11682C>T:p.Ser3894=	coding	Benign
16	2091558	C	A	C2091558A	PKD1	NM_001009944.3(PKD1):c.11577G>T:p.Pro3859=	coding	Benign
16	2091608	G	A	G2091608A	PKD1	NM_001009944.3(PKD1):c.11538-11C>T	noncoding	Benign/Likely_benign
16	2091793	C	T	C2091793T	PKD1	NM_001009944.3(PKD1):c.11525G>A:p.Trp3842Ter	coding	Pathogenic/Likely_pathogenic
16	2091794	A	G	A2091794G	PKD1	NM_001009944.3(PKD1):c.11524T>C:p.Trp3842Arg	coding	Pathogenic/Likely_pathogenic
16	2091795	G	A	G2091795A	PKD1	NM_001009944.3(PKD1):c.11523C>T:p.Asn3841=	coding	Benign
16	2091806	G	A	G2091806A	PKD1	NM_001009944.3(PKD1):c.11512C>T:p.Gln3838Ter	coding	Pathogenic
16	2091857	G	A	G2091857A	PKD1	NM_001009944.3(PKD1):c.11461C>T:p.Gln3821Ter	coding	Pathogenic
16	2091861	G	T	G2091861T	PKD1	NM_001009944.3(PKD1):c.11457C>A:p.Tyr3819Ter	coding	Pathogenic
16	2091908	T	G	T2091908G	PKD1	NM_001009944.3(PKD1):c.11412-2A>C	noncoding	Pathogenic
16	2092046	C	G	C2092046G	PKD1	NM_001009944.3(PKD1):c.11411+1G>C	noncoding	Pathogenic
16	2092082	C	G	C2092082G	PKD1	NM_001009944.3(PKD1):c.11376G>C:p.Ser3792=	coding	Benign
16	2092112	G	A	G2092112A	PKD1	NM_001009944.3(PKD1):c.11346C>T:p.Asp3782=	coding	Benign
16	2092115	G	C	G2092115C	PKD1	NM_001009944.3(PKD1):c.11343C>G:p.Tyr3781Ter	coding	Pathogenic
16	2092121	G	C	G2092121C	PKD1	NM_001009944.3(PKD1):c.11337C>G:p.Ser3779Arg	coding	Benign
16	2092142	G	C	G2092142C	PKD1	NM_001009944.3(PKD1):c.11316C>G:p.Ala3772=	coding	Benign
16	2092181	G	C	G2092181C	PKD1	NM_001009944.3(PKD1):c.11277C>G:p.Tyr3759Ter	coding	Pathogenic
16	2092352	G	A	G2092352A	PKD1	NM_001009944.3(PKD1):c.11269+128C>T	noncoding	Benign
16	2092492	G	A	G2092492A	PKD1	NM_001009944.3(PKD1):c.11257C>T:p.Arg3753Trp	coding	Pathogenic
16	2092534	G	A	G2092534A	PKD1;LOC105371049	NM_001009944.3(PKD1):c.11215C>T:p.Gln3739Ter	coding	Pathogenic
16	2092573	A	G	A2092573G	PKD1	NM_001009944.3(PKD1):c.11176T>C:p.Trp3726Arg	coding	Pathogenic
16	2092941	C	T	C2092941T	PKD1	NM_001009944.3(PKD1):c.11156+13G>A	noncoding	Benign
16	2092953	C	G	C2092953G	PKD1	NM_001009944.3(PKD1):c.11156+1G>C	noncoding	Pathogenic
16	2092954	C	T	C2092954T	PKD1	NM_001009944.3(PKD1):c.11156G>A:p.Arg3719Gln	coding	Pathogenic
16	2092991	G	A	G2092991A	PKD1	NM_001009944.3(PKD1):c.11119C>T:p.Gln3707Ter	coding	Pathogenic
16	2093032	G	T	G2093032T	PKD1	NM_001009944.3(PKD1):c.11078C>A:p.Ser3693Ter	coding	Pathogenic
16	2093602	G	A	G2093602A	PKD1	NM_001009944.3(PKD1):c.10958C>T:p.Ala3653Val	coding	Pathogenic/Likely_pathogenic
16	2093752	G	A	G2093752A	PKD1	NM_001009944.3(PKD1):c.10822-14C>T	noncoding	Benign
16	2093864	G	A	G2093864A	PKD1	NM_001009944.3(PKD1):c.10768C>T:p.Leu3590=	coding	Benign
16	2093883	G	A	G2093883A	PKD1	NM_001009944.3(PKD1):c.10749C>T:p.Gly3583=	coding	Benign
16	2093908	C	T	C2093908T	PKD1	NM_001009944.3(PKD1):c.10724G>A:p.Trp3575Ter	coding	Pathogenic
16	2093945	G	A	G2093945A	PKD1	NM_001009944.3(PKD1):c.10687C>T:p.Leu3563=	coding	Benign
16	2093954	C	T	C2093954T	PKD1	NM_001009944.3(PKD1):c.10678G>A:p.Gly3560Arg	coding	Benign/Likely_benign
16	2094090	A	C	A2094090C	PKD1	NM_001009944.3(PKD1):c.10618+2T>G	noncoding	Pathogenic
16	2094122	G	A	G2094122A	PKD1	NM_001009944.3(PKD1):c.10588C>T:p.Gln3530Ter	coding	Pathogenic
16	2094127	C	T	C2094127T	PKD1	NM_001009944.3(PKD1):c.10583G>A:p.Trp3528Ter	coding	Pathogenic
16	2094170	G	A	G2094170A	PKD1	NM_001009944.3(PKD1):c.10540C>T:p.Gln3514Ter	coding	Pathogenic
16	2094175	G	A	G2094175A	PKD1	NM_001009944.3(PKD1):c.10535C>T:p.Ala3512Val	coding	Benign
16	2094181	G	A	G2094181A	PKD1	NM_001009944.3(PKD1):c.10529C>T:p.Thr3510Met	coding	Benign/Likely_benign
16	2097227	G	A	G2097227A	PKD1	NM_001009944.3(PKD1):c.10420C>T:p.Gln3474Ter	coding	Pathogenic/Likely_pathogenic
16	2097245	G	A	G2097245A	PKD1	NM_001009944.3(PKD1):c.10406-4C>T	noncoding	Benign
16	2097327	G	A	G2097327A	PKD1	NM_001009944.3(PKD1):c.10397C>T:p.Ser3466Leu	coding	Benign/Likely_benign
16	2097337	T	A	T2097337A	PKD1	NM_001009944.3(PKD1):c.10387A>T:p.Lys3463Ter	coding	Pathogenic
16	2097356	G	A	G2097356A	PKD1	NM_001009944.3(PKD1):c.10368C>T:p.Ala3456=	coding	Benign
16	2097376	C	A	C2097376A	PKD1	NM_001009944.3(PKD1):c.10348G>T:p.Glu3450Ter	coding	Pathogenic
16	2097485	G	A	G2097485A	PKD1	NM_001009944.3(PKD1):c.10239C>T:p.Ser3413=	coding	Benign
16	2097499	C	G	C2097499G	PKD1	NM_001009944.3(PKD1):c.10225G>C:p.Val3409Leu	coding	Benign
16	2097695	C	T	C2097695T	PKD1	NM_001009944.3(PKD1):c.10220+33G>A	noncoding	Benign
16	2097884	G	C	G2097884C	PKD1	NM_001009944.3(PKD1):c.10151C>G:p.Ser3384Ter	coding	Pathogenic
16	2097916	C	T	C2097916T	PKD1	NM_001009944.3(PKD1):c.10119G>A:p.Ser3373=	coding	Benign
16	2097951	G	A	G2097951A	PKD1	NM_001009944.3(PKD1):c.10084C>T:p.Gln3362Ter	coding	Pathogenic
16	2097955	G	A	G2097955A	PKD1	NM_001009944.3(PKD1):c.10080C>T:p.Ala3360=	coding	Benign
16	2098009	C	T	C2098009T	PKD1	NM_001009944.3(PKD1):c.10051-25G>A	noncoding	Benign
16	2099590	T	C	T2099590C	PKD1	NM_001009944.3(PKD1):c.10050+54A>G	noncoding	Benign
16	2099737	G	A	G2099737A	PKD1	NM_001009944.3(PKD1):c.9957C>T:p.Ser3319=	coding	Benign/Likely_benign
16	2099890	C	T	C2099890T	PKD1	NM_001009944.3(PKD1):c.9894G>A:p.Trp3298Ter	coding	Pathogenic
16	2099917	G	T	G2099917T	PKD1	NM_001009944.3(PKD1):c.9867C>A:p.Cys3289Ter	coding	Pathogenic
16	2099989	G	A	G2099989A	PKD1	NM_001009944.3(PKD1):c.9795C>T:p.Ser3265=	coding	Benign
16	2100200	G	A	G2100200A	PKD1	NM_001009944.3(PKD1):c.9678C>T:p.Asn3226=	coding	Benign
16	2100209	C	T	C2100209T	PKD1	NM_001009944.3(PKD1):c.9669G>A:p.Thr3223=	coding	Benign
16	2100286	G	A	G2100286A	PKD1	NM_001009944.3(PKD1):c.9592C>T:p.Gln3198Ter	coding	Pathogenic
16	2100293	C	T	C2100293T	PKD1	NM_001009944.3(PKD1):c.9585G>A:p.Trp3195Ter	coding	Pathogenic
16	2100320	G	A	G2100320A	PKD1	NM_001009944.3(PKD1):c.9569-11C>T	noncoding	Benign
16	2100322	A	G	A2100322G	PKD1	NM_001009944.3(PKD1):c.9569-13T>C	noncoding	Benign
16	2100417	G	A	G2100417A	PKD1	NM_001009944.3(PKD1):c.9547C>T:p.Arg3183Ter	coding	Pathogenic
16	2100567	C	G	C2100567G	PKD1	NM_001009944.3(PKD1):c.9398-1G>C	coding	Pathogenic
16	2102128	A	G	A2102128G	PKD1	NM_001009944.3(PKD1):c.9330T>C:p.Pro3110=	coding	Benign
16	2102160	G	A	G2102160A	PKD1	NM_001009944.3(PKD1):c.9298C>T:p.Gln3100Ter	coding	Pathogenic/Likely_pathogenic
16	2102188	G	A	G2102188A	PKD1	NM_001009944.3(PKD1):c.9270C>T:p.Val3090=	coding	Benign/Likely_benign
16	2102386	A	G	A2102386G	PKD1	NM_001009944.3(PKD1):c.9196T>C:p.Phe3066Leu	coding	Benign
16	2102387	C	G	C2102387G	PKD1	NM_001009944.3(PKD1):c.9195G>C:p.Val3065=	coding	Benign
16	2102426	G	A	G2102426A	PKD1	NM_001009944.3(PKD1):c.9156C>T:p.Gly3052=	coding	Benign
16	2102560	C	T	C2102560T	PKD1	NM_001009944.3(PKD1):c.9022G>A:p.Val3008Met	coding	Benign
16	2102573	C	T	C2102573T	PKD1	NM_001009944.3(PKD1):c.9009G>A:p.Ala3003=	coding	Benign
16	2102618	C	T	C2102618T	PKD1	NM_001009944.3(PKD1):c.8964G>A:p.Ala2988=	coding	Benign
16	2102637	G	A	G2102637A	PKD1	NM_001009944.3(PKD1):c.8949-4C>T	noncoding	Benign
16	2102650	T	C	T2102650C	PKD1	NM_001009944.3(PKD1):c.8949-17A>G	noncoding	Benign
16	2102653	C	T	C2102653T	PKD1	NM_001009944.3(PKD1):c.8949-20G>A	noncoding	Benign
16	2102734	T	C	T2102734C	PKD1	NM_001009944.3(PKD1):c.8948+80A>G	noncoding	Benign
16	2102797	T	C	T2102797C	PKD1	NM_001009944.3(PKD1):c.8948+17A>G	noncoding	Benign
16	2102802	C	T	C2102802T	PKD1	NM_001009944.3(PKD1):c.8948+12G>A	noncoding	Benign
16	2102803	G	A	G2102803A	PKD1	NM_001009944.3(PKD1):c.8948+11C>T	noncoding	Benign
16	2102849	A	G	A2102849G	PKD1	NM_001009944.3(PKD1):c.8913T>C:p.Ala2971=	coding	Benign
16	2102857	G	A	G2102857A	PKD1	NM_001009944.3(PKD1):c.8905C>T:p.Gln2969Ter	coding	Pathogenic
16	2102864	C	G	C2102864G	PKD1	NM_001009944.3(PKD1):c.8898G>C:p.Glu2966Asp	coding	Benign/Likely_benign
16	2102889	G	T	G2102889T	PKD1	NM_001009944.3(PKD1):c.8873C>A:p.Ser2958Ter	coding	Pathogenic
16	2103253	C	T	C2103253T	PKD1	NM_001009944.3(PKD1):c.8791+13G>A	noncoding	Benign
16	2103265	C	T	C2103265T	PKD1	NM_001009944.3(PKD1):c.8791+1G>A	noncoding	Pathogenic
16	2103290	G	A	G2103290A	PKD1	NM_001009944.3(PKD1):c.8767C>T:p.Gln2923Ter	coding	Pathogenic
16	2103344	C	T	C2103344T	PKD1	NM_001009944.3(PKD1):c.8713G>A:p.Val2905Ile	coding	Benign/Likely_benign
16	2103353	G	A	G2103353A	PKD1	NM_001009944.3(PKD1):c.8704C>T:p.Gln2902Ter	coding	Pathogenic
16	2103359	G	A	G2103359A	PKD1	NM_001009944.3(PKD1):c.8698C>T:p.Gln2900Ter	coding	Pathogenic
16	2103378	G	C	G2103378C	PKD1	NM_001009944.3(PKD1):c.8679C>G:p.Ser2893=	coding	Benign
16	2103413	A	T	A2103413T	PKD1	NM_001009944.3(PKD1):c.8644T>A:p.Trp2882Arg	coding	Benign/Likely_benign
16	2103417	C	T	C2103417T	PKD1	NM_001009944.3(PKD1):c.8640G>A:p.Ser2880=	coding	Benign
16	2103467	C	A	C2103467A	PKD1	NM_001009944.3(PKD1):c.8590G>T:p.Glu2864Ter	coding	Pathogenic
16	2103497	G	A	G2103497A	PKD1	NM_001009944.3(PKD1):c.8560C>T:p.Gln2854Ter	coding	Pathogenic
16	2103613	G	A	G2103613A	PKD1	NM_001009944.3(PKD1):c.8444C>T:p.Ala2815Val	coding	Benign
16	2103617	C	T	C2103617T	PKD1	NM_001009944.3(PKD1):c.8440G>A:p.Gly2814Arg	coding	Benign/Likely_benign
16	2103618	G	A	G2103618A	PKD1	NM_001009944.3(PKD1):c.8439C>T:p.Ser2813=	coding	Benign
16	2103693	C	T	C2103693T	PKD1	NM_001009944.3(PKD1):c.8364G>A:p.Ser2788=	coding	Benign/Likely_benign
16	2103746	C	T	C2103746T	PKD1	NM_001009944.3(PKD1):c.8311G>A:p.Glu2771Lys	coding	Pathogenic/Likely_pathogenic
16	2103752	G	A	G2103752A	PKD1	NM_001009944.3(PKD1):c.8305C>T:p.Leu2769Phe	coding	Benign/Likely_benign
16	2103758	G	A	G2103758A	PKD1	NM_001009944.3(PKD1):c.8299C>T:p.Arg2767Cys	coding	Pathogenic/Likely_pathogenic
16	2103759	G	A	G2103759A	PKD1	NM_001009944.3(PKD1):c.8298C>T:p.Ser2766=	coding	Benign/Likely_benign
16	2103806	G	A	G2103806A	PKD1	NM_001009944.3(PKD1):c.8251C>T:p.Gln2751Ter	coding	Pathogenic
16	2103810	C	T	C2103810T	PKD1	NM_001009944.3(PKD1):c.8247G>A:p.Ala2749=	coding	Benign
16	2103822	A	C	A2103822C	PKD1	NM_001009944.3(PKD1):c.8235T>G:p.Ser2745=	coding	Benign/Likely_benign
16	2103839	C	A	C2103839A	PKD1	NM_001009944.3(PKD1):c.8218G>T:p.Gly2740Ter	coding	Pathogenic
16	2103870	C	T	C2103870T	PKD1	NM_001009944.3(PKD1):c.8187G>A:p.Ser2729=	coding	Benign
16	2103896	C	T	C2103896T	PKD1	NM_001009944.3(PKD1):c.8162-1G>A	coding	Pathogenic
16	2103897	T	C	T2103897C	PKD1	NM_001009944.3(PKD1):c.8162-2A>G	noncoding	Pathogenic
16	2103907	C	T	C2103907T	PKD1	NM_001009944.3(PKD1):c.8162-12G>A	noncoding	Benign
16	2103932	G	A	G2103932A	PKD1	NM_001009944.3(PKD1):c.8162-37C>T	noncoding	Benign
16	2104428	G	T	G2104428T	PKD1	NM_001009944.3(PKD1):c.8161+70C>A	noncoding	Benign
16	2104460	C	T	C2104460T	PKD1	NM_001009944.3(PKD1):c.8161+38G>A	noncoding	Benign
16	2104469	C	T	C2104469T	PKD1	NM_001009944.3(PKD1):c.8161+29G>A	noncoding	Benign
16	2104477	A	G	A2104477G	PKD1	NM_001009944.3(PKD1):c.8161+21T>C	noncoding	Benign
16	2104490	C	T	C2104490T	PKD1	NM_001009944.3(PKD1):c.8161+8G>A	noncoding	Benign/Likely_benign
16	2104536	G	A	G2104536A	PKD1	NM_001009944.3(PKD1):c.8123C>T:p.Thr2708Met	coding	Benign/Likely_benign
16	2104548	G	A	G2104548A	PKD1	NM_001009944.3(PKD1):c.8111C>T:p.Ala2704Val	coding	Benign/Likely_benign
16	2104550	G	A	G2104550A	PKD1	NM_001009944.3(PKD1):c.8109C>T:p.Thr2703=	coding	Benign/Likely_benign
16	2104564	G	A	G2104564A	PKD1	NM_001009944.3(PKD1):c.8095C>T:p.Gln2699Ter	coding	Pathogenic
16	2104572	A	C	A2104572C	PKD1	NM_001009944.3(PKD1):c.8087T>G:p.Leu2696Arg	coding	Benign
16	2104603	G	A	G2104603A	PKD1	NM_001009944.3(PKD1):c.8056C>T:p.Gln2686Ter	coding	Pathogenic
16	2104614	G	T	G2104614T	PKD1	NM_001009944.3(PKD1):c.8045C>A:p.Ser2682Ter	coding	Pathogenic
16	2104622	T	C	T2104622C	PKD1	NM_001009944.3(PKD1):c.8037A>G:p.Val2679=	coding	Benign
16	2104639	G	A	G2104639A	PKD1	NM_001009944.3(PKD1):c.8020C>T:p.Pro2674Ser	coding	Benign/Likely_benign
16	2104643	C	G	C2104643G	PKD1	NM_001009944.3(PKD1):c.8017-1G>C	coding	Pathogenic
16	2104644	T	C	T2104644C	PKD1	NM_001009944.3(PKD1):c.8017-2A>G	noncoding	Pathogenic
16	2104671	G	A	G2104671A	PKD1	NM_001009944.3(PKD1):c.8017-29C>T	noncoding	Benign
16	2105296	A	G	A2105296G	PKD1	NM_001009944.3(PKD1):c.8016+26T>C	noncoding	Benign
16	2105330	G	A	G2105330A	PKD1	NM_001009944.3(PKD1):c.8008C>T:p.Gln2670Ter	coding	Pathogenic
16	2105346	G	A	G2105346A	PKD1	NM_001009944.3(PKD1):c.7992C>T:p.Ile2664=	coding	Benign
16	2105351	G	A	G2105351A	PKD1	NM_001009944.3(PKD1):c.7987C>T:p.Gln2663Ter	coding	Pathogenic
16	2105411	G	A	G2105411A	PKD1	NM_001009944.3(PKD1):c.7927C>T:p.Arg2643Cys	coding	Pathogenic/Likely_pathogenic
16	2105423	G	A	G2105423A	PKD1	NM_001009944.3(PKD1):c.7915C>T:p.Arg2639Ter	coding	Pathogenic
16	2105425	T	C	T2105425C	PKD1	NM_001009944.3(PKD1):c.7913A>G:p.His2638Arg	coding	Benign
16	2105435	C	A	C2105435A	PKD1	NM_001009944.3(PKD1):c.7903G>T:p.Glu2635Ter	coding	Pathogenic
16	2105818	A	C	A2105818C	PKD1	NM_001009944.3(PKD1):c.7863+47T>G	noncoding	Benign
16	2105852	A	G	A2105852G	PKD1	NM_001009944.3(PKD1):c.7863+13T>C	noncoding	Benign/Likely_benign
16	2105854	G	A	G2105854A	PKD1	NM_001009944.3(PKD1):c.7863+11C>T	noncoding	Benign/Likely_benign
16	2105867	C	A	C2105867A	PKD1	NM_001009944.3(PKD1):c.7861G>T:p.Glu2621Ter	coding	Pathogenic
16	2105880	G	A	G2105880A	PKD1	NM_001009944.3(PKD1):c.7848C>T:p.Val2616=	coding	Benign
16	2105895	G	C	G2105895C	PKD1	NM_001009944.3(PKD1):c.7833C>G:p.Tyr2611Ter	coding	Pathogenic
16	2105994	G	A	G2105994A	PKD1	NM_001009944.3(PKD1):c.7734C>T:p.Asn2578=	coding	Benign
16	2106020	A	G	A2106020G	PKD1	NM_001009944.3(PKD1):c.7708T>C:p.Leu2570=	coding	Benign
16	2106128	G	A	G2106128A	PKD1	NM_001009944.3(PKD1):c.7666C>T:p.Gln2556Ter	coding	Pathogenic
16	2106152	C	A	C2106152A	PKD1	NM_001009944.3(PKD1):c.7642G>T:p.Glu2548Ter	coding	Pathogenic
16	2106152	C	G	C2106152G	PKD1	NM_001009944.3(PKD1):c.7642G>C:p.Glu2548Gln	coding	Benign/Likely_benign
16	2106301	C	T	C2106301T	PKD1	NM_001009944.3(PKD1):c.7493G>A:p.Trp2498Ter	coding	Pathogenic
16	2106306	T	A	T2106306A	PKD1	NM_001009944.3(PKD1):c.7490-2A>T	noncoding	Pathogenic
16	2106314	G	A	G2106314A	PKD1	NM_001009944.3(PKD1):c.7490-10C>T	noncoding	Benign
16	2106323	G	A	G2106323A	PKD1	NM_001009944.3(PKD1):c.7490-19C>T	noncoding	Benign
16	2106357	C	T	C2106357T	PKD1	NM_001009944.3(PKD1):c.7489+41G>A	noncoding	Benign
16	2106368	G	A	G2106368A	PKD1	NM_001009944.3(PKD1):c.7489+30C>T	noncoding	Benign
16	2106446	G	A	G2106446A	PKD1	NM_001009944.3(PKD1):c.7441C>T:p.Leu2481=	coding	Benign
16	2106459	G	T	G2106459T	PKD1	NM_001009944.3(PKD1):c.7428C>A:p.Cys2476Ter	coding	Pathogenic
16	2106518	C	A	C2106518A	PKD1	NM_001009944.3(PKD1):c.7369G>T:p.Glu2457Ter	coding	Pathogenic
16	2106534	C	A	C2106534A	PKD1	NM_001009944.3(PKD1):c.7353G>T:p.Leu2451=	coding	Benign
16	2106560	C	A	C2106560A	PKD1	NM_001009944.3(PKD1):c.7327G>T:p.Gly2443Ter	coding	Pathogenic
16	2106599	G	A	G2106599A	PKD1	NM_001009944.3(PKD1):c.7288C>T:p.Arg2430Ter	coding	Pathogenic
16	2106673	C	T	C2106673T	PKD1;MIR6511B1	NM_001009944.3(PKD1):c.7214G>A:p.Trp2405Ter	coding	Pathogenic
16	2106684	G	A	G2106684A	PKD1	NM_001009944.3(PKD1):c.7210-7C>T	coding	Benign
16	2106810	G	A	G2106810A	PKD1	NM_001009944.3(PKD1):c.7204C>T:p.Arg2402Ter	coding	Pathogenic
16	2106849	A	G	A2106849G	PKD1	NM_001009944.3(PKD1):c.7165T>C:p.Leu2389=	coding	Benign
16	2106850	G	C	G2106850C	PKD1	NM_001009944.3(PKD1):c.7164C>G:p.Tyr2388Ter	coding	Pathogenic
16	2106877	G	C	G2106877C	PKD1	NM_001009944.3(PKD1):c.7137C>G:p.Tyr2379Ter	coding	Pathogenic
16	2106888	G	A	G2106888A	PKD1	NM_001009944.3(PKD1):c.7126C>T:p.Gln2376Ter	coding	Pathogenic
16	2106937	C	G	C2106937G	PKD1	NM_001009944.3(PKD1):c.7077G>C:p.Arg2359=	coding	Benign
16	2106953	C	T	C2106953T	PKD1	NM_001009944.3(PKD1):c.7066-5G>A	noncoding	Benign/Likely_benign
16	2107003	A	T	A2107003T	PKD1	NM_001009944.3(PKD1):c.7066-55T>A	noncoding	Benign
16	2107862	C	T	C2107862T	PKD1	NM_001009944.3(PKD1):c.7065+21G>A	noncoding	Benign
16	2107863	G	A	G2107863A	PKD1	NM_001009944.3(PKD1):c.7065+20C>T	noncoding	Benign
16	2107874	G	A	G2107874A	PKD1	NM_001009944.3(PKD1):c.7065+9C>T	noncoding	Pathogenic
16	2107940	G	C	G2107940C	PKD1	NM_001009944.3(PKD1):c.7008C>G:p.Tyr2336Ter	coding	Pathogenic
16	2108021	G	A	G2108021A	PKD1	NM_001009944.3(PKD1):c.6927C>T:p.Gly2309=	coding	Benign
16	2108175	T	A	T2108175A	PKD1	NM_001009944.3(PKD1):c.6915+77A>T	noncoding	Benign
16	2108254	G	A	G2108254A	PKD1	NM_001009944.3(PKD1):c.6913C>T:p.Gln2305Ter	coding	Pathogenic
16	2108289	G	A	G2108289A	PKD1	NM_001009944.3(PKD1):c.6878C>T:p.Pro2293Leu	coding	Benign
16	2108321	G	T	G2108321T	PKD1	NM_001009944.3(PKD1):c.6846C>A:p.Tyr2282Ter	coding	Pathogenic
16	2108361	G	C	G2108361C	PKD1	NM_001009944.3(PKD1):c.6806C>G:p.Ser2269Ter	coding	Pathogenic
16	2108372	G	T	G2108372T	PKD1	NM_001009944.3(PKD1):c.6795C>A:p.Tyr2265Ter	coding	Pathogenic
16	2108396	C	T	C2108396T	PKD1	NM_001009944.3(PKD1):c.6771G>A:p.Val2257=	coding	Benign
16	2108431	G	A	G2108431A	PKD1	NM_001009944.3(PKD1):c.6736C>T:p.Gln2246Ter	coding	Pathogenic
16	2108440	G	A	G2108440A	PKD1	NM_001009944.3(PKD1):c.6727C>T:p.Gln2243Ter	coding	Pathogenic
16	2108546	G	C	G2108546C	PKD1	NM_001009944.3(PKD1):c.6621C>G:p.Pro2207=	coding	Benign/Likely_benign
16	2108561	C	T	C2108561T	PKD1	NM_001009944.3(PKD1):c.6606G>A:p.Ala2202=	coding	Benign
16	2108569	G	A	G2108569A	PKD1	NM_001009944.3(PKD1):c.6598C>T:p.Arg2200Cys	coding	Benign/Likely_benign
16	2108581	G	A	G2108581A	PKD1	NM_001009944.3(PKD1):c.6586C>T:p.Gln2196Ter	coding	Pathogenic
16	2108622	T	C	T2108622C	PKD1	NM_001009944.3(PKD1):c.6545A>G:p.Gln2182Arg	coding	Benign/Likely_benign
16	2108633	G	T	G2108633T	PKD1	NM_001009944.3(PKD1):c.6534C>A:p.Cys2178Ter	coding	Pathogenic
16	2108674	G	A	G2108674A	PKD1	NM_001009944.3(PKD1):c.6493C>T:p.Gln2165Ter	coding	Pathogenic
16	2108679	C	T	C2108679T	PKD1	NM_001009944.3(PKD1):c.6488G>A:p.Arg2163Gln	coding	Benign/Likely_benign
16	2108680	G	A	G2108680A	PKD1	NM_001009944.3(PKD1):c.6487C>T:p.Arg2163Ter	coding	Pathogenic
16	2108800	G	A	G2108800A	PKD1	NM_001009944.3(PKD1):c.6367C>T:p.Gln2123Ter	coding	Pathogenic
16	2108860	G	A	G2108860A	PKD1	NM_001009944.3(PKD1):c.6307C>T:p.Gln2103Ter	coding	Pathogenic
16	2108868	G	T	G2108868T	PKD1	NM_001009944.3(PKD1):c.6299C>A:p.Ser2100Ter	coding	Pathogenic
16	2108870	C	A	C2108870A	PKD1	NM_001009944.3(PKD1):c.6297G>T:p.Gly2099=	coding	Benign
16	2108968	G	A	G2108968A	PKD1	NM_001009944.3(PKD1):c.6199C>T:p.Gln2067Ter	coding	Pathogenic
16	2109083	G	T	G2109083T	PKD1	NM_001009944.3(PKD1):c.6084C>A:p.Tyr2028Ter	coding	Pathogenic
16	2109089	G	A	G2109089A	PKD1	NM_001009944.3(PKD1):c.6078C>T:p.Val2026=	coding	Benign/Likely_benign
16	2109136	G	A	G2109136A	PKD1	NM_001009944.3(PKD1):c.6031C>T:p.Gln2011Ter	coding	Pathogenic
16	2109283	G	A	G2109283A	PKD1	NM_001009944.3(PKD1):c.5884C>T:p.Gln1962Ter	coding	Pathogenic
16	2109289	G	A	G2109289A	PKD1	NM_001009944.3(PKD1):c.5878C>T:p.Gln1960Ter	coding	Pathogenic
16	2109320	G	A	G2109320A	PKD1	NM_001009944.3(PKD1):c.5847C>T:p.Ser1949=	coding	Benign/Likely_benign
16	2109337	C	A	C2109337A	PKD1	NM_001009944.3(PKD1):c.5830G>T:p.Gly1944Ter	coding	Pathogenic
16	2109340	C	T	C2109340T	PKD1	NM_001009944.3(PKD1):c.5827G>A:p.Val1943Ile	coding	Benign/Likely_benign
16	2109356	G	C	G2109356C	PKD1	NM_001009944.3(PKD1):c.5811C>G:p.Ser1937=	coding	Benign
16	2109403	G	A	G2109403A	PKD1	NM_001009944.3(PKD1):c.5764C>T:p.Gln1922Ter	coding	Pathogenic
16	2109404	C	T	C2109404T	PKD1	NM_001009944.3(PKD1):c.5763G>A:p.Leu1921=	coding	Benign
16	2109460	G	A	G2109460A	PKD1	NM_001009944.3(PKD1):c.5707C>T:p.Gln1903Ter	coding	Pathogenic
16	2109485	G	A	G2109485A	PKD1	NM_001009944.3(PKD1):c.5682C>T:p.Ala1894=	coding	Benign/Likely_benign
16	2109556	C	T	C2109556T	PKD1	NM_001009944.3(PKD1):c.5611G>A:p.Ala1871Thr	coding	Benign/Likely_benign
16	2109698	C	T	C2109698T	PKD1	NM_001009944.3(PKD1):c.5469G>A:p.Val1823=	coding	Benign
16	2109710	G	A	G2109710A	PKD1	NM_001009944.3(PKD1):c.5457C>T:p.Ala1819=	coding	Benign
16	2109713	C	T	C2109713T	PKD1	NM_001009944.3(PKD1):c.5454G>A:p.Ala1818=	coding	Benign
16	2109794	G	A	G2109794A	PKD1	NM_001009944.3(PKD1):c.5373C>T:p.Asn1791=	coding	Benign
16	2109801	G	C	G2109801C	PKD1	NM_001009944.3(PKD1):c.5366C>G:p.Ser1789Ter	coding	Pathogenic
16	2109849	G	A	G2109849A	PKD1	NM_001009944.3(PKD1):c.5318C>T:p.Thr1773Ile	coding	Benign
16	2109860	A	G	A2109860G	PKD1	NM_001009944.3(PKD1):c.5307T>C:p.His1769=	coding	Benign
16	2109995	G	A	G2109995A	PKD1	NM_001009944.3(PKD1):c.5172C>T:p.Ala1724=	coding	Benign
16	2110025	G	A	G2110025A	PKD1	NM_001009944.3(PKD1):c.5142C>T:p.Phe1714=	coding	Benign
16	2110081	G	A	G2110081A	PKD1	NM_001009944.3(PKD1):c.5086C>T:p.Gln1696Ter	coding	Pathogenic
16	2110116	G	A	G2110116A	PKD1	NM_001009944.3(PKD1):c.5051C>T:p.Ser1684Leu	coding	Benign/Likely_benign
16	2110145	C	T	C2110145T	PKD1	NM_001009944.3(PKD1):c.5022G>A:p.Pro1674=	coding	Benign
16	2110210	G	A	G2110210A	PKD1	NM_001009944.3(PKD1):c.4957C>T:p.Gln1653Ter	coding	Pathogenic
16	2110250	G	A	G2110250A	PKD1	NM_001009944.3(PKD1):c.4917C>T:p.Gly1639=	coding	Benign/Likely_benign
16	2110261	G	A	G2110261A	PKD1	NM_001009944.3(PKD1):c.4906C>T:p.Gln1636Ter	coding	Pathogenic
16	2110262	C	T	C2110262T	PKD1	NM_001009944.3(PKD1):c.4905G>A:p.Leu1635=	coding	Benign
16	2110295	G	A	G2110295A	PKD1	NM_001009944.3(PKD1):c.4872C>T:p.Ile1624=	coding	Benign
16	2110306	G	A	G2110306A	PKD1	NM_001009944.3(PKD1):c.4861C>T:p.Gln1621Ter	coding	Pathogenic
16	2110322	G	A	G2110322A	PKD1	NM_001009944.3(PKD1):c.4845C>T:p.Asn1615=	coding	Benign
16	2110370	G	T	G2110370T	PKD1	NM_001009944.3(PKD1):c.4797C>A:p.Tyr1599Ter	coding	Pathogenic
16	2110493	C	T	C2110493T	PKD1	NM_001009944.3(PKD1):c.4674G>A:p.Thr1558=	coding	Benign
16	2110502	T	G	T2110502G	PKD1	NM_001009944.3(PKD1):c.4665A>C:p.Ala1555=	coding	Benign
16	2110513	C	T	C2110513T	PKD1	NM_001009944.3(PKD1):c.4654G>A:p.Val1552Ile	coding	Benign
16	2110551	C	T	C2110551T	PKD1	NM_001009944.3(PKD1):c.4616G>A:p.Trp1539Ter	coding	Pathogenic
16	2110621	C	T	C2110621T	PKD1	NM_001009944.3(PKD1):c.4546G>A:p.Ala1516Thr	coding	Benign/Likely_benign
16	2110715	C	T	C2110715T	PKD1	NM_001009944.3(PKD1):c.4452G>A:p.Pro1484=	coding	Benign
16	2110723	G	A	G2110723A	PKD1	NM_001009944.3(PKD1):c.4444C>T:p.Gln1482Ter	coding	Pathogenic
16	2110861	G	A	G2110861A	PKD1	NM_001009944.3(PKD1):c.4306C>T:p.Arg1436Ter	coding	Pathogenic
16	2110865	G	A	G2110865A	PKD1	NM_001009944.3(PKD1):c.4302C>T:p.Ile1434=	coding	Benign
16	2110903	C	T	C2110903T	PKD1	NM_001009944.3(PKD1):c.4264G>A:p.Ala1422Thr	coding	Benign/Likely_benign
16	2110904	G	A	G2110904A	PKD1	NM_001009944.3(PKD1):c.4263C>T:p.Ala1421=	coding	Benign
16	2110909	C	A	C2110909A	PKD1	NM_001009944.3(PKD1):c.4258G>T:p.Glu1420Ter	coding	Pathogenic
16	2110972	A	G	A2110972G	PKD1	NM_001009944.3(PKD1):c.4195T>C:p.Trp1399Arg	coding	Benign
16	2110976	C	T	C2110976T	PKD1	NM_001009944.3(PKD1):c.4191G>A:p.Glu1397=	coding	Benign
16	2110990	G	A	G2110990A	PKD1	NM_001009944.3(PKD1):c.4177C>T:p.Gln1393Ter	coding	Pathogenic
16	2111096	C	A	C2111096A	PKD1	NM_001009944.3(PKD1):c.4071G>T:p.Leu1357=	coding	Benign
16	2111114	C	A	C2111114A	PKD1	NM_001009944.3(PKD1):c.4053G>T:p.Arg1351=	coding	Benign
16	2111149	G	A	G2111149A	PKD1	NM_001009944.3(PKD1):c.4018C>T:p.Arg1340Trp	coding	Benign/Likely_benign
16	2111232	C	T	C2111232T	PKD1	NM_001009944.3(PKD1):c.3935G>A:p.Arg1312Gln	coding	Benign
16	2111237	G	A	G2111237A	PKD1	NM_001009944.3(PKD1):c.3930C>T:p.Asp1310=	coding	Benign
16	2111314	G	A	G2111314A	PKD1	NM_001009944.3(PKD1):c.3853C>T:p.Arg1285Trp	coding	Benign
16	2111375	G	T	G2111375T	PKD1	NM_001009944.3(PKD1):c.3792C>A:p.Tyr1264Ter	coding	Pathogenic
16	2111436	G	A	G2111436A	PKD1	NM_001009944.3(PKD1):c.3731C>T:p.Thr1244Ile	coding	Benign
16	2111567	C	T	C2111567T	PKD1	NM_001009944.3(PKD1):c.3600G>A:p.Ala1200=	coding	Benign
16	2111624	A	T	A2111624T	PKD1	NM_001009944.3(PKD1):c.3543T>A:p.Tyr1181Ter	coding	Pathogenic
16	2111647	G	A	G2111647A	PKD1	NM_001009944.3(PKD1):c.3520C>T:p.Gln1174Ter	coding	Pathogenic
16	2111654	G	C	G2111654C	PKD1	NM_001009944.3(PKD1):c.3513C>G:p.Thr1171=	coding	Benign
16	2111665	G	A	G2111665A	PKD1	NM_001009944.3(PKD1):c.3502C>T:p.Pro1168Ser	coding	Benign/Likely_benign
16	2111672	G	A	G2111672A	PKD1	NM_001009944.3(PKD1):c.3495C>T:p.Asp1165=	coding	Benign
16	2111678	G	A	G2111678A	PKD1	NM_001009944.3(PKD1):c.3489C>T:p.Phe1163=	coding	Benign
16	2111685	C	T	C2111685T	PKD1	NM_001009944.3(PKD1):c.3482G>A:p.Trp1161Ter	coding	Pathogenic
16	2111723	C	T	C2111723T	PKD1	NM_001009944.3(PKD1):c.3444G>A:p.Pro1148=	coding	Benign
16	2111726	G	C	G2111726C	PKD1	NM_001009944.3(PKD1):c.3441C>G:p.Tyr1147Ter	coding	Pathogenic
16	2111743	G	A	G2111743A	PKD1	NM_001009944.3(PKD1):c.3424C>T:p.Arg1142Trp	coding	Benign
16	2111792	G	A	G2111792A	PKD1	NM_001009944.3(PKD1):c.3375C>T:p.Ser1125=	coding	Benign
16	2111795	G	A	G2111795A	PKD1	NM_001009944.3(PKD1):c.3372C>T:p.Ala1124=	coding	Benign
16	2111818	G	A	G2111818A	PKD1	NM_001009944.3(PKD1):c.3349C>T:p.Gln1117Ter	coding	Pathogenic
16	2111821	G	A	G2111821A	PKD1	NM_001009944.3(PKD1):c.3346C>T:p.Gln1116Ter	coding	Pathogenic
16	2111851	G	C	G2111851C	PKD1	NM_001009944.3(PKD1):c.3316C>G:p.Leu1106Val	coding	Benign/Likely_benign
16	2111872	C	G	C2111872G	PKD1	NM_001009944.3(PKD1):c.3296-1G>C	coding	Pathogenic
16	2111872	C	T	C2111872T	PKD1	NM_001009944.3(PKD1):c.3296-1G>A	coding	Pathogenic
16	2111886	C	T	C2111886T	PKD1	NM_001009944.3(PKD1):c.3296-15G>A	noncoding	Benign
16	2111927	G	A	G2111927A	PKD1	NM_001009944.3(PKD1):c.3296-56C>T	noncoding	Benign
16	2112350	G	T	G2112350T	PKD1	NM_001009944.3(PKD1):c.3285C>A:p.Tyr1095Ter	coding	Pathogenic
16	2112358	G	A	G2112358A	PKD1	NM_001009944.3(PKD1):c.3277C>T:p.His1093Tyr	coding	Benign
16	2112360	A	G	A2112360G	PKD1	NM_001009944.3(PKD1):c.3275T>C:p.Met1092Thr	coding	Benign/Likely_benign
16	2112385	G	A	G2112385A	PKD1	NM_001009944.3(PKD1):c.3250C>T:p.Gln1084Ter	coding	Pathogenic
16	2112433	G	A	G2112433A	PKD1	NM_001009944.3(PKD1):c.3202C>T:p.Gln1068Ter	coding	Pathogenic
16	2112451	G	A	G2112451A	PKD1	NM_001009944.3(PKD1):c.3184C>T:p.Gln1062Ter	coding	Pathogenic
16	2112452	C	T	C2112452T	PKD1	NM_001009944.3(PKD1):c.3183G>A:p.Glu1061=	coding	Benign/Likely_benign
16	2112809	G	A	G2112809A	PKD1	NM_001009944.3(PKD1):c.3140C>T:p.Ser1047Leu	coding	Benign
16	2112838	T	C	T2112838C	PKD1	NM_001009944.3(PKD1):c.3111A>G:p.Leu1037=	coding	Benign
16	2112848	T	C	T2112848C	PKD1	NM_001009944.3(PKD1):c.3101A>G:p.Asn1034Ser	coding	Benign/Likely_benign
16	2112880	C	G	C2112880G	PKD1	NM_001009944.3(PKD1):c.3069G>C:p.Gln1023His	coding	Benign
16	2112886	A	G	A2112886G	PKD1	NM_001009944.3(PKD1):c.3063T>C:p.Gly1021=	coding	Benign
16	2112891	G	A	G2112891A	PKD1	NM_001009944.3(PKD1):c.3058C>T:p.Gln1020Ter	coding	Pathogenic
16	2112964	C	T	C2112964T	PKD1	NM_001009944.3(PKD1):c.2986-1G>A	coding	Pathogenic
16	2112978	G	A	G2112978A	PKD1	NM_001009944.3(PKD1):c.2986-15C>T	noncoding	Benign
16	2113294	T	C	T2113294C	PKD1	NM_001009944.3(PKD1):c.2854-2A>G	noncoding	Pathogenic
16	2113297	G	A	G2113297A	PKD1	NM_001009944.3(PKD1):c.2854-5C>T	noncoding	Benign
16	2114147	G	A	G2114147A	PKD1	NM_001009944.3(PKD1):c.2853+23C>T	noncoding	Benign
16	2114293	G	A	G2114293A	PKD1	NM_001009944.3(PKD1):c.2730C>T:p.Asp910=	coding	Benign
16	2114321	C	T	C2114321T	PKD1	NM_001009944.3(PKD1):c.2702G>A:p.Trp901Ter	coding	Pathogenic
16	2114323	C	T	C2114323T	PKD1	NM_001009944.3(PKD1):c.2700G>A:p.Pro900=	coding	Benign
16	2114329	T	G	T2114329G	PKD1	NM_001009944.3(PKD1):c.2694A>C:p.Ala898=	coding	Benign
16	2114368	G	A	G2114368A	PKD1	NM_001009944.3(PKD1):c.2655C>T:p.Cys885=	coding	Benign/Likely_benign
16	2114489	A	G	A2114489G	PKD1	NM_001009944.3(PKD1):c.2534T>C:p.Leu845Ser	coding	Pathogenic/Likely_pathogenic
16	2114489	A	T	A2114489T	PKD1	NM_001009944.3(PKD1):c.2534T>A:p.Leu845Ter	coding	Pathogenic
16	2114757	C	T	C2114757T	PKD1	NM_001009944.3(PKD1):c.2266G>A:p.Ala756Thr	coding	Benign
16	2114788	G	C	G2114788C	PKD1	NM_001009944.3(PKD1):c.2235C>G:p.Ala745=	coding	Benign/Likely_benign
16	2114807	C	T	C2114807T	PKD1	NM_001009944.3(PKD1):c.2216G>A:p.Arg739Gln	coding	Benign
16	2114808	G	A	G2114808A	PKD1	NM_001009944.3(PKD1):c.2215C>T:p.Arg739Trp	coding	Pathogenic
16	2114809	G	C	G2114809C	PKD1	NM_001009944.3(PKD1):c.2214C>G:p.Pro738=	coding	Benign
16	2114831	G	A	G2114831A	PKD1	NM_001009944.3(PKD1):c.2192C>T:p.Pro731Leu	coding	Benign
16	2114871	G	A	G2114871A	PKD1	NM_001009944.3(PKD1):c.2152C>T:p.Gln718Ter	coding	Pathogenic
16	2114914	G	A	G2114914A	PKD1	NM_001009944.3(PKD1):c.2109C>T:p.His703=	coding	Benign
16	2114926	C	G	C2114926G	PKD1	NM_001009944.3(PKD1):c.2098-1G>C	coding	Pathogenic
16	2115376	A	G	A2115376G	PKD1	NM_001009944.3(PKD1):c.2097+2T>C	noncoding	Pathogenic
16	2115427	C	T	C2115427T	PKD1	NM_001009944.3(PKD1):c.2048G>A:p.Trp683Ter	coding	Pathogenic
16	2115629	T	C	T2115629C	PKD1	NM_001009944.3(PKD1):c.1850-4A>G	noncoding	Benign
16	2116119	C	T	C2116119T	PKD1	NM_001009944.3(PKD1):c.1723-1G>A	coding	Pathogenic
16	2116120	T	C	T2116120C	PKD1	NM_001009944.3(PKD1):c.1723-2A>G	noncoding	Pathogenic
16	2116192	T	G	T2116192G	PKD1	NM_001009944.3(PKD1):c.1723-74A>C	noncoding	Benign
16	2116527	A	G	A2116527G	PKD1	NM_001009944.3(PKD1):c.1722+2T>C	noncoding	Pathogenic
16	2116528	C	T	C2116528T	PKD1	NM_001009944.3(PKD1):c.1722+1G>A	noncoding	Pathogenic
16	2116537	G	A	G2116537A	PKD1	NM_001009944.3(PKD1):c.1714C>T:p.Pro572Ser	coding	Benign/Likely_benign
16	2116541	G	A	G2116541A	PKD1	NM_001009944.3(PKD1):c.1710C>T:p.His570=	coding	Benign/Likely_benign
16	2116564	G	A	G2116564A	PKD1	NM_001009944.3(PKD1):c.1687C>T:p.Gln563Ter	coding	Pathogenic
16	2116577	C	T	C2116577T	PKD1	NM_001009944.3(PKD1):c.1674G>A:p.Thr558=	coding	Benign
16	2116671	G	A	G2116671A	PKD1	NM_001009944.3(PKD1):c.1607-27C>T	noncoding	Benign
16	2116828	C	T	C2116828T	PKD1	NM_001009944.3(PKD1):c.1606+5G>A	noncoding	Pathogenic
16	2116837	G	A	G2116837A	PKD1	NM_001009944.3(PKD1):c.1602C>T:p.Pro534=	coding	Benign
16	2116855	G	T	G2116855T	PKD1	NM_001009944.3(PKD1):c.1584C>A:p.Tyr528Ter	coding	Pathogenic
16	2116856	T	C	T2116856C	PKD1	NM_001009944.3(PKD1):c.1583A>G:p.Tyr528Cys	coding	Pathogenic
16	2116900	G	A	G2116900A	PKD1	NM_001009944.3(PKD1):c.1539C>T:p.Pro513=	coding	Benign
16	2116906	G	A	G2116906A	PKD1	NM_001009944.3(PKD1):c.1533C>T:p.Leu511=	coding	Benign
16	2116951	C	A	C2116951A	PKD1	NM_001009944.3(PKD1):c.1488G>T:p.Leu496=	coding	Benign
16	2117463	G	A	G2117463A	PKD1	NM_001009944.3(PKD1):c.1385+26C>T	noncoding	Benign
16	2117548	G	A	G2117548A	PKD1	NM_001009944.3(PKD1):c.1326C>T:p.Ala442=	coding	Benign
16	2117551	C	T	C2117551T	PKD1	NM_001009944.3(PKD1):c.1323G>A:p.Gly441=	coding	Benign
16	2117571	G	A	G2117571A	PKD1	NM_001009944.3(PKD1):c.1303C>T:p.Gln435Ter	coding	Pathogenic
16	2117588	C	A	C2117588A	PKD1	NM_001009944.3(PKD1):c.1286G>T:p.Trp429Leu	coding	Pathogenic
16	2117794	G	A	G2117794A	PKD1	NM_001009944.3(PKD1):c.1198C>T:p.Arg400Ter	coding	Pathogenic
16	2117844	G	T	G2117844T	PKD1	NM_001009944.3(PKD1):c.1148C>A:p.Ser383Ter	coding	Pathogenic
16	2117873	G	A	G2117873A	PKD1	NM_001009944.3(PKD1):c.1119C>T:p.Leu373=	coding	Benign
16	2117969	G	A	G2117969A	PKD1	NM_001009944.3(PKD1):c.1023C>T:p.Ala341=	coding	Benign
16	2118155	C	T	C2118155T	PKD1	NM_001009944.3(PKD1):c.837G>A:p.Gly279=	coding	Benign/Likely_benign
16	2118248	G	T	G2118248T	PKD1	NM_001009944.3(PKD1):c.744C>A:p.Cys248Ter	coding	Pathogenic
16	2118314	C	T	C2118314T	PKD1	NM_001009944.3(PKD1):c.678G>A:p.Glu226=	coding	Pathogenic
16	2118389	G	A	G2118389A	PKD1	NM_001009944.3(PKD1):c.603C>T:p.His201=	coding	Benign
16	2118404	G	A	G2118404A	PKD1	NM_001009944.3(PKD1):c.588C>T:p.Ser196=	coding	Benign/Likely_benign
16	2118801	C	T	C2118801T	PKD1	NM_001009944.3(PKD1):c.404G>A:p.Trp135Ter	coding	Pathogenic
16	2119151	C	A	C2119151A	PKD1	NM_001009944.3(PKD1):c.322G>T:p.Glu108Ter	coding	Pathogenic
16	2119187	T	C	T2119187C	PKD1	NM_001009944.3(PKD1):c.288-2A>G	noncoding	Pathogenic
16	2119196	C	G	C2119196G	PKD1	NM_001009944.3(PKD1):c.288-11G>C	noncoding	Benign/Likely_benign
16	2119205	C	T	C2119205T	PKD1	NM_001009944.3(PKD1):c.288-20G>A	noncoding	Benign
16	2119206	G	A	G2119206A	PKD1	NM_001009944.3(PKD1):c.288-21C>T	noncoding	Benign
16	2119217	T	C	T2119217C	PKD1	NM_001009944.3(PKD1):c.288-32A>G	noncoding	Benign
16	2119318	C	T	C2119318T	PKD1	NM_001009944.3(PKD1):c.276G>A:p.Ala92=	coding	Benign
16	2119356	G	A	G2119356A	PKD1	NM_001009944.3(PKD1):c.238C>T:p.Arg80Trp	coding	Benign
16	2119416	C	T	C2119416T	PKD1	NM_001009944.3(PKD1):c.216-38G>A	noncoding	Benign
16	2135474	C	G	C2135474G	PKD1	NM_001009944.3(PKD1):c.215+1G>C	noncoding	Pathogenic
16	2135476	G	A	G2135476A	PKD1	NM_001009944.3(PKD1):c.214C>T:p.Leu72=	coding	Benign/Likely_benign
16	2135508	G	A	G2135508A	PKD1	NM_001009944.3(PKD1):c.182C>T:p.Pro61Leu	coding	Benign/Likely_benign
16	2135583	G	T	G2135583T	PKD1	NM_001009944.3(PKD1):c.107C>A:p.Pro36His	coding	Benign/Likely_benign
16	2135591	G	T	G2135591T	PKD1	NM_001009944.3(PKD1):c.99C>A:p.Cys33Ter	coding	Pathogenic
16	2135687	C	T	C2135687T	PKD1	NM_001009944.3(PKD1):c.3G>A:p.Met1Ile	coding	Pathogenic
16	2172597	C	T	C2172597T	TRAF7	NM_032271.3(TRAF7):c.792C>T:p.Tyr264=	coding	Benign
16	2173504	A	G	A2173504G	TRAF7	NM_032271.3(TRAF7):c.1036A>G:p.Lys346Glu	coding	Pathogenic
16	2173812	C	G	C2173812G	TRAF7	NM_032271.3(TRAF7):c.1111C>G:p.Arg371Gly	coding	Pathogenic
16	2176103	A	G	A2176103G	TRAF7	NM_032271.3(TRAF7):c.1801A>G:p.Thr601Ala	coding	Pathogenic
16	2246926	G	A	G2246926A	ECI1	NM_001919.4(ECI1):c.227C>T:p.Thr76Met	coding	Benign
16	2255692	G	A	G2255692A	RNPS1	NM_080594.4(RNPS1):c.711C>T:p.Ala237=	coding	Benign
16	2276362	C	A	C2276362A	ABCA3	NM_001089.3(ABCA3):c.*312G>T	noncoding	Benign
16	2277878	C	T	C2277878T	ABCA3	NM_001089.3(ABCA3):c.4909+1G>A	noncoding	Pathogenic
16	2278016	T	G	T2278016G	ABCA3	NM_001089.3(ABCA3):c.4772A>C:p.Gln1591Pro	coding	Pathogenic
16	2278348	A	G	A2278348G	ABCA3	NM_001089.3(ABCA3):c.4658T>C:p.Leu1553Pro	coding	Pathogenic
16	2279070	G	A	G2279070A	ABCA3	NM_001089.3(ABCA3):c.4420C>T:p.Arg1474Trp	coding	Benign/Likely_benign
16	2281229	C	T	C2281229T	ABCA3	NM_001089.3(ABCA3):c.4165-8G>A	noncoding	Benign
16	2281429	A	G	A2281429G	ABCA3	NM_001089.3(ABCA3):c.4116T>C:p.Ser1372=	coding	Benign
16	2285499	C	T	C2285499T	ABCA3	NM_001089.3(ABCA3):c.3426G>A:p.Trp1142Ter	coding	Pathogenic
16	2286806	C	T	C2286806T	ABCA3	NM_001089.3(ABCA3):c.3166G>A:p.Val1056Ile	coding	Benign
16	2288234	C	T	C2288234T	ABCA3	NM_001089.3(ABCA3):c.2796G>A:p.Val932=	coding	Benign/Likely_benign
16	2289628	G	A	G2289628A	ABCA3	NM_001089.3(ABCA3):c.2514-8C>T	noncoding	Benign
16	2295671	T	C	T2295671C	ABCA3	NM_001089.3(ABCA3):c.2333A>G:p.His778Arg	coding	Benign/Likely_benign
16	2297879	G	A	G2297879A	ABCA3	NM_001089.3(ABCA3):c.1939C>T:p.Gln647Ter	coding	Pathogenic
16	2298413	G	A	G2298413A	ABCA3	NM_001089.3(ABCA3):c.1869C>T:p.Val623=	coding	Benign/Likely_benign
16	2298516	C	T	C2298516T	ABCA3	NM_001089.3(ABCA3):c.1766G>A:p.Arg589Gln	coding	Benign
16	2298527	G	C	G2298527C	ABCA3	NM_001089.3(ABCA3):c.1755C>G:p.Pro585=	coding	Benign
16	2299442	T	C	T2299442C	ABCA3	NM_001089.3(ABCA3):c.1702A>G:p.Asn568Asp	coding	Pathogenic
16	2317335	G	A	G2317335A	ABCA3	NM_001089.3(ABCA3):c.1059C>T:p.Phe353=	coding	Benign
16	2317634	G	A	G2317634A	ABCA3	NM_001089.3(ABCA3):c.990+14C>T	noncoding	Benign
16	2317684	G	A	G2317684A	ABCA3	NM_001089.3(ABCA3):c.954C>T:p.Ile318=	coding	Benign/Likely_benign
16	2317763	T	A	T2317763A	ABCA3	NM_001089.3(ABCA3):c.875A>T:p.Glu292Val	coding	Pathogenic/Likely_pathogenic
16	2319571	G	A	G2319571A	ABCA3	NM_001089.3(ABCA3):c.873+10C>T	noncoding	Benign/Likely_benign
16	2319773	G	A	G2319773A	ABCA3	NM_001089.3(ABCA3):c.681C>T:p.Ala227=	coding	Benign
16	2319849	G	A	G2319849A	ABCA3	NM_001089.3(ABCA3):c.614-9C>T	noncoding	Benign
16	2323686	C	T	C2323686T	ABCA3	NM_001089.3(ABCA3):c.450G>A:p.Val150=	coding	Benign
16	2323702	G	C	G2323702C	ABCA3	NM_001089.3(ABCA3):c.448-14C>G	noncoding	Benign
16	2324393	G	A	G2324393A	ABCA3	NM_001089.3(ABCA3):c.447+11C>T	noncoding	Benign
16	2326027	A	G	A2326027G	ABCA3	NM_001089.3(ABCA3):c.302T>C:p.Leu101Pro	coding	Pathogenic
16	2326116	G	A	G2326116A	ABCA3	NM_001089.3(ABCA3):c.213C>T:p.Phe71=	coding	Benign/Likely_benign
16	2326201	C	T	C2326201T	ABCA3	NM_001089.3(ABCA3):c.128G>A:p.Arg43His	coding	Pathogenic
16	2326475	T	C	T2326475C	ABCA3	NM_001089.3(ABCA3):c.-9A>G	noncoding	Benign
16	2328443	A	T	A2328443T	ABCA3	NM_001089.3(ABCA3):c.-27+10T>A	noncoding	Benign
16	2328455	G	C	G2328455C	ABCA3	NM_001089.3(ABCA3):c.-29C>G	noncoding	Benign
16	2328595	C	T	C2328595T	ABCA3	NM_001089.3(ABCA3):c.-169G>A	noncoding	Benign
16	2328662	G	C	G2328662C	ABCA3	NM_001089.3(ABCA3):c.-236C>G	noncoding	Benign
16	2328680	G	A	G2328680A	ABCA3	NM_001089.3(ABCA3):c.-254C>T	noncoding	Benign
16	2329810	G	A	G2329810A	ABCA3	NM_001089.3(ABCA3):c.-494C>T	noncoding	Benign
16	2340564	G	T	G2340564T	ABCA3	NM_001089.3(ABCA3):c.-539+9C>A	noncoding	Benign
16	2340595	G	T	G2340595T	ABCA3	NM_001089.3(ABCA3):c.-561C>A	noncoding	Benign
16	2340705	A	T	A2340705T	ABCA3	NM_001089.3(ABCA3):c.-671T>A	noncoding	Benign
16	2340745	G	C	G2340745C	ABCA3	NM_001089.2(ABCA3):c.-711C>G	noncoding	Benign
16	2431224	A	G	A2431224G	CCNF	NM_001761.3(CCNF):c.111A>G:p.Glu37=	coding	Benign
16	2433046	G	A	G2433046A	CCNF	NM_001761.3(CCNF):c.257G>A:p.Gly86Glu	coding	Benign
16	2448948	G	T	G2448948T	CCNF	NM_001761.3(CCNF):c.1188G>T:p.Glu396Asp	coding	Benign
16	2448977	G	A	G2448977A	CCNF	NM_001761.3(CCNF):c.1217G>A:p.Arg406Gln	coding	Benign
16	2449455	C	T	C2449455T	CCNF	NM_001761.3(CCNF):c.1392C>T:p.His464=	coding	Benign
16	2455452	G	A	G2455452A	CCNF	NM_001761.3(CCNF):c.1773G>A:p.Ala591=	coding	Benign
16	2455489	T	A	T2455489A	CCNF	NM_001761.3(CCNF):c.1810T>A:p.Phe604Ile	coding	Benign
16	2455530	C	T	C2455530T	CCNF	NM_001761.3(CCNF):c.1851C>T:p.Gly617=	coding	Benign
16	2456799	G	A	G2456799A	CCNF	NM_001761.3(CCNF):c.2140G>A:p.Val714Met	coding	Benign
16	2456861	G	A	G2456861A	CCNF	NM_001761.3(CCNF):c.2202G>A:p.Ser734=	coding	Benign
16	2496118	T	C	T2496118C	TBC1D24	NM_001199107.2(TBC1D24):c.-31T>C	noncoding	Benign
16	2496131	C	T	C2496131T	TBC1D24	NM_001199107.2(TBC1D24):c.-18C>T	noncoding	Benign
16	2496170	T	C	T2496170C	TBC1D24	NM_001199107.2(TBC1D24):c.22T>C:p.Cys8Arg	coding	Benign/Likely_benign
16	2496206	C	G	C2496206G	TBC1D24	NM_001199107.2(TBC1D24):c.58C>G:p.Gln20Glu	coding	Pathogenic
16	2496206	C	T	C2496206T	TBC1D24	NM_001199107.2(TBC1D24):c.58C>T:p.Gln20Ter	coding	Pathogenic
16	2496266	C	T	C2496266T	TBC1D24	NM_001199107.2(TBC1D24):c.118C>T:p.Arg40Cys	coding	Pathogenic
16	2496267	G	T	G2496267T	TBC1D24	NM_001199107.2(TBC1D24):c.119G>T:p.Arg40Leu	coding	Pathogenic
16	2496269	C	T	C2496269T	TBC1D24	NM_001199107.2(TBC1D24):c.121C>T:p.Gln41Ter	coding	Pathogenic
16	2496279	G	A	G2496279A	TBC1D24	NM_001199107.2(TBC1D24):c.131G>A:p.Trp44Ter	coding	Pathogenic
16	2496342	G	T	G2496342T	TBC1D24	NM_001199107.2(TBC1D24):c.194G>T:p.Arg65Leu	coding	Pathogenic
16	2496352	G	A	G2496352A	TBC1D24	NM_001199107.2(TBC1D24):c.204G>A:p.Thr68=	coding	Benign/Likely_benign
16	2496355	T	C	T2496355C	TBC1D24	NM_001199107.2(TBC1D24):c.207T>C:p.Pro69=	coding	Benign
16	2496356	G	T	G2496356T	TBC1D24	NM_001199107.2(TBC1D24):c.208G>T:p.Asp70Tyr	coding	Pathogenic
16	2496461	T	C	T2496461C	TBC1D24	NM_001199107.2(TBC1D24):c.313T>C:p.Cys105Arg	coding	Pathogenic
16	2496494	A	T	A2496494T	TBC1D24	NM_001199107.2(TBC1D24):c.346A>T:p.Lys116Ter	coding	Pathogenic
16	2496587	G	C	G2496587C	TBC1D24	NM_001199107.2(TBC1D24):c.439G>C:p.Asp147His	coding	Pathogenic
16	2496589	C	T	C2496589T	TBC1D24	NM_001199107.2(TBC1D24):c.441C>T:p.Asp147=	coding	Benign/Likely_benign
16	2496590	G	T	G2496590T	TBC1D24	NM_001199107.2(TBC1D24):c.442G>T:p.Glu148Ter	coding	Pathogenic
16	2496616	C	A	C2496616A	TBC1D24	NM_001199107.2(TBC1D24):c.468C>A:p.Cys156Ter	coding	Pathogenic
16	2496681	C	T	C2496681T	TBC1D24	NM_001199107.2(TBC1D24):c.533C>T:p.Ser178Leu	coding	Pathogenic
16	2496767	C	T	C2496767T	TBC1D24	NM_001199107.2(TBC1D24):c.619C>T:p.Gln207Ter	coding	Pathogenic
16	2496778	G	A	G2496778A	TBC1D24	NM_001199107.2(TBC1D24):c.630G>A:p.Ala210=	coding	Benign/Likely_benign
16	2496805	G	A	G2496805A	TBC1D24	NM_001199107.2(TBC1D24):c.657G>A:p.Glu219=	coding	Benign
16	2496811	C	T	C2496811T	TBC1D24	NM_001199107.2(TBC1D24):c.663C>T:p.Pro221=	coding	Benign/Likely_benign
16	2496872	C	T	C2496872T	TBC1D24	NM_001199107.2(TBC1D24):c.724C>T:p.Arg242Cys	coding	Pathogenic/Likely_pathogenic
16	2496899	T	C	T2496899C	TBC1D24	NM_001199107.2(TBC1D24):c.751T>C:p.Phe251Leu	coding	Pathogenic
16	2496933	C	T	C2496933T	TBC1D24	NM_001199107.2(TBC1D24):c.785C>T:p.Ser262Leu	coding	Benign/Likely_benign
16	2497026	G	C	G2497026C	TBC1D24	NM_001199107.2(TBC1D24):c.878G>C:p.Arg293Pro	coding	Pathogenic
16	2497114	G	A	G2497114A	TBC1D24	NM_001199107.2(TBC1D24):c.965+1G>A	coding	Pathogenic
16	2497124	G	A	G2497124A	TBC1D24	NM_001199107.2(TBC1D24):c.965+11G>A	noncoding	Benign/Likely_benign
16	2497715	C	A	C2497715A	TBC1D24	NM_001199107.2(TBC1D24):c.971C>A:p.Ser324Ter	coding	Pathogenic
16	2497734	C	T	C2497734T	TBC1D24	NM_001199107.2(TBC1D24):c.983+7C>T	noncoding	Benign/Likely_benign
16	2498253	G	T	G2498253T	TBC1D24	NM_001199107.2(TBC1D24):c.999G>T:p.Leu333Phe	coding	Pathogenic
16	2498256	C	T	C2498256T	TBC1D24	NM_001199107.2(TBC1D24):c.1002C>T:p.Ala334=	coding	Benign/Likely_benign
16	2498328	C	T	C2498328T	TBC1D24	NM_001199107.2(TBC1D24):c.1074C>T:p.Pro358=	coding	Benign/Likely_benign
16	2498333	G	A	G2498333A	TBC1D24	NM_001199107.2(TBC1D24):c.1079G>A:p.Arg360His	coding	Pathogenic
16	2498333	G	T	G2498333T	TBC1D24	NM_001199107.2(TBC1D24):c.1079G>T:p.Arg360Leu	coding	Pathogenic
16	2498385	C	G	C2498385G	TBC1D24	NM_001199107.2(TBC1D24):c.1131C>G:p.Tyr377Ter	coding	Pathogenic
16	2498413	C	A	C2498413A	TBC1D24	NM_001199107.2(TBC1D24):c.1142+17C>A	noncoding	Benign
16	2499351	C	T	C2499351T	TBC1D24	NM_001199107.2(TBC1D24):c.1143-6C>T	noncoding	Benign
16	2499367	C	T	C2499367T	TBC1D24	NM_001199107.2(TBC1D24):c.1153C>T:p.Gln385Ter	coding	Pathogenic
16	2499425	G	A	G2499425A	TBC1D24	NM_001199107.2(TBC1D24):c.1206+5G>A	noncoding	Pathogenic
16	2500064	C	T	C2500064T	TBC1D24	NM_001199107.2(TBC1D24):c.1302+134C>T	noncoding	Benign
16	2500068	C	T	C2500068T	TBC1D24	NM_001199107.2(TBC1D24):c.1302+138C>T	noncoding	Benign
16	2500088	T	C	T2500088C	TBC1D24	NM_001199107.2(TBC1D24):c.1302+158T>C	noncoding	Benign
16	2500111	T	C	T2500111C	TBC1D24	NM_001199107.2(TBC1D24):c.1303-157T>C	noncoding	Benign
16	2500291	C	T	C2500291T	TBC1D24	NM_001199107.2(TBC1D24):c.1326C>T:p.Tyr442=	coding	Benign/Likely_benign
16	2500392	C	A	C2500392A	TBC1D24	NM_001199107.2(TBC1D24):c.1427C>A:p.Ala476Asp	coding	Benign/Likely_benign
16	2500405	G	A	G2500405A	TBC1D24	NM_001199107.2(TBC1D24):c.1440G>A:p.Ser480=	coding	Benign
16	2500465	G	A	G2500465A	TBC1D24	NM_001199107.2(TBC1D24):c.1500G>A:p.Ala500=	coding	Benign/Likely_benign
16	2500466	G	A	G2500466A	TBC1D24	NM_001199107.2(TBC1D24):c.1501G>A:p.Gly501Arg	coding	Pathogenic
16	2500468	G	A	G2500468A	TBC1D24	NM_001199107.2(TBC1D24):c.1503G>A:p.Gly501=	coding	Benign/Likely_benign
16	2500474	C	T	C2500474T	TBC1D24	NM_001199107.2(TBC1D24):c.1509C>T:p.Ser503=	coding	Benign
16	2500503	A	C	A2500503C	TBC1D24	NM_001199107.2(TBC1D24):c.1525+13A>C	noncoding	Benign
16	2500784	C	T	C2500784T	TBC1D24	NM_001199107.2(TBC1D24):c.1526-20C>T	noncoding	Benign
16	2500994	G	T	G2500994T	TBC1D24	NM_001199107.2(TBC1D24):c.*36G>T	noncoding	Benign
16	2501014	C	T	C2501014T	TBC1D24	NM_001199107.2(TBC1D24):c.*56C>T	noncoding	Benign
16	2501146	C	T	C2501146T	TBC1D24	NM_001199107.2(TBC1D24):c.*188C>T	noncoding	Benign
16	2501343	C	T	C2501343T	TBC1D24	NM_001199107.2(TBC1D24):c.*385C>T	noncoding	Benign
16	2501347	C	A	C2501347A	TBC1D24	NM_001199107.2(TBC1D24):c.*389C>A	noncoding	Benign
16	2501690	A	G	A2501690G	TBC1D24	NM_001199107.2(TBC1D24):c.*732A>G	noncoding	Benign
16	2501794	C	T	C2501794T	TBC1D24	NM_001199107.2(TBC1D24):c.*836C>T	noncoding	Benign
16	2502118	G	A	G2502118A	TBC1D24	NM_001199107.2(TBC1D24):c.*1160G>A	noncoding	Benign
16	2502533	C	T	C2502533T	TBC1D24	NM_001199107.2(TBC1D24):c.*1575C>T	noncoding	Benign
16	2502617	G	A	G2502617A	TBC1D24	NM_001199107.2(TBC1D24):c.*1659G>A	noncoding	Benign
16	2502649	G	A	G2502649A	TBC1D24	NM_001199107.2(TBC1D24):c.*1691G>A	noncoding	Benign
16	2502772	G	C	G2502772C	TBC1D24	NM_001199107.2(TBC1D24):c.*1814G>C	noncoding	Benign
16	2503353	A	G	A2503353G	TBC1D24	NM_001199107.2(TBC1D24):c.*2395A>G	noncoding	Benign
16	2503487	A	T	A2503487T	TBC1D24	NM_001199107.2(TBC1D24):c.*2529A>T	noncoding	Benign
16	2503556	G	C	G2503556C	TBC1D24	NM_001199107.2(TBC1D24):c.*2598G>C	noncoding	Benign
16	2503868	A	T	A2503868T	TBC1D24	NM_001199107.2(TBC1D24):c.*2910A>T	noncoding	Benign
16	2504366	C	T	C2504366T	TBC1D24	NM_001199107.2(TBC1D24):c.*3408C>T	noncoding	Benign
16	2505078	T	C	T2505078C	TBC1D24	NM_001199107.2(TBC1D24):c.*4120T>C	noncoding	Benign
16	2519744	A	T	A2519744T	ATP6V0C	NM_001694.4(ATP6V0C):c.467A>T:p.Ter156Leu	coding	Pathogenic
16	2714144	C	T	C2714144T	PRSS27	NM_031948.5(PRSS27):c.429G>A:p.Val143=	coding	Benign
16	2760398	A	G	A2760398G	SRRM2	NM_016333.4(SRRM2):c.931A>G:p.Ser311Gly	coding	Benign
16	2760458	C	T	C2760458T	SRRM2	NM_016333.4(SRRM2):c.991C>T:p.Pro331Ser	coding	Benign
16	2760468	C	T	C2760468T	SRRM2	NM_016333.4(SRRM2):c.1001C>T:p.Pro334Leu	coding	Benign
16	2761832	G	C	G2761832C	SRRM2	NM_016333.4(SRRM2):c.1304G>C:p.Ser435Thr	coding	Benign
16	2762481	C	T	C2762481T	SRRM2	NM_016333.4(SRRM2):c.1953C>T:p.Thr651=	coding	Benign
16	2763095	C	G	C2763095G	SRRM2	NM_016333.4(SRRM2):c.2567C>G:p.Thr856Arg	coding	Benign
16	2763176	C	G	C2763176G	SRRM2	NM_016333.4(SRRM2):c.2648C>G:p.Ser883Cys	coding	Benign
16	2763516	C	T	C2763516T	SRRM2	NM_016333.4(SRRM2):c.2988C>T:p.Tyr996=	coding	Benign
16	2765556	A	G	A2765556G	SRRM2	NM_016333.4(SRRM2):c.5028A>G:p.Pro1676=	coding	Benign
16	2765783	G	C	G2765783C	SRRM2	NM_016333.4(SRRM2):c.5255G>C:p.Arg1752Pro	coding	Benign
16	2766384	A	G	A2766384G	SRRM2	NM_016333.4(SRRM2):c.5856A>G:p.Pro1952=	coding	Benign
16	2766626	G	C	G2766626C	SRRM2	NM_016333.4(SRRM2):c.6098G>C:p.Arg2033Pro	coding	Benign
16	2767980	G	A	G2767980A	SRRM2	NM_016333.4(SRRM2):c.7452G>A:p.Thr2484=	coding	Benign
16	2768169	A	G	A2768169G	SRRM2	NM_016333.4(SRRM2):c.7641A>G:p.Ser2547=	coding	Benign
16	2768175	G	A	G2768175A	SRRM2	NM_016333.4(SRRM2):c.7647G>A:p.Ser2549=	coding	Benign
16	2769162	T	C	T2769162C	SRRM2	NM_016333.4(SRRM2):c.7899T>C:p.Ser2633=	coding	Benign
16	2930801	G	A	G2930801A	FLYWCH1	NM_001308068.1(FLYWCH1):c.717G>A:p.Pro239=	coding	Benign
16	2933374	C	T	C2933374T	FLYWCH1	NM_001308068.1(FLYWCH1):c.1041C>T:p.Ala347=	coding	Benign
16	2937324	G	A	G2937324A	FLYWCH1	NM_001308068.1(FLYWCH1):c.1717G>A:p.Gly573Ser	coding	Benign
16	2967373	C	T	C2967373T	KREMEN2	NM_172229.3(KREMEN2):c.1027C>T:p.Pro343Ser	coding	Benign
16	2975551	G	A	G2975551A	PKMYT1	NM_004203.5(PKMYT1):c.640C>T:p.Leu214=	coding	Benign
16	3015980	T	C	T3015980C	CLDN6	NM_021195.5(CLDN6):c.42A>G:p.Thr14=	coding	Benign
16	3021820	C	A	C3021820A	TNFRSF12A	NM_016639.3(TNFRSF12A):c.384C>A:p.Ile128=	coding	Benign
16	3025803	C	A	C3025803A	THOC6	NM_024339.5(THOC6):c.135C>A:p.Tyr45Ter	coding	Pathogenic/Likely_pathogenic
16	3025804	G	A	G3025804A	THOC6	NM_024339.5(THOC6):c.136G>A:p.Gly46Arg	coding	Pathogenic
16	3025807	C	T	C3025807T	THOC6	NM_024339.5(THOC6):c.139C>T:p.Gln47Ter	coding	Pathogenic
16	3026101	C	T	C3026101T	THOC6	NM_024339.5(THOC6):c.259C>T:p.Arg87Ter	coding	Pathogenic
16	3026140	T	A	T3026140A	THOC6	NM_024339.5(THOC6):c.298T>A:p.Trp100Arg	coding	Pathogenic/Likely_pathogenic
16	3026549	C	T	C3026549T	THOC6	NM_024339.5(THOC6):c.445C>T:p.Gln149Ter	coding	Pathogenic
16	3026772	C	T	C3026772T	THOC6	NM_024339.5(THOC6):c.577C>T:p.Arg193Ter	coding	Pathogenic
16	3026891	A	C	A3026891C	THOC6	NM_024339.5(THOC6):c.611A>C:p.Gln204Pro	coding	Pathogenic
16	3027379	G	A	G3027379A	THOC6	NM_024339.5(THOC6):c.824G>A:p.Gly275Asp	coding	Pathogenic/Likely_pathogenic
16	3027413	C	T	C3027413T	THOC6	NM_024339.5(THOC6):c.858C>T:p.Ser286=	coding	Benign
16	3067373	G	A	G3067373A	IL32	NM_001376923.1(IL32):c.16-4G>A	noncoding	Benign
16	3067377	G	A	G3067377A	IL32	NM_001376923.1(IL32):c.16G>A:p.Val6Ile	coding	Benign
16	3067563	A	C	A3067563C	IL32	NM_001376923.1(IL32):c.64A>C:p.Ile22Leu	coding	Benign
16	3067569	A	G	A3067569G	IL32	NM_001376923.1(IL32):c.70A>G:p.Arg24Gly	coding	Benign
16	3067576	A	G	A3067576G	IL32	NM_001376923.1(IL32):c.77A>G:p.Tyr26Cys	coding	Benign
16	3067992	G	A	G3067992A	IL32	NM_001376923.1(IL32):c.123G>A:p.Ser41=	coding	Benign
16	3068238	C	T	C3068238T	IL32	NM_001376923.1(IL32):c.200C>T:p.Pro67Leu	coding	Benign
16	3068239	A	G	A3068239G	IL32	NM_001376923.1(IL32):c.201A>G:p.Pro67=	coding	Benign
16	3089998	G	T	G3089998T	ZSCAN10	NM_032805.3(ZSCAN10):c.1436C>A:p.Ser479Tyr	coding	Benign
16	3090600	C	T	C3090600T	ZSCAN10	NM_032805.3(ZSCAN10):c.834G>A:p.Glu278=	coding	Benign
16	3091559	C	T	C3091559T	ZSCAN10	NM_032805.3(ZSCAN10):c.768G>A:p.Ala256=	coding	Benign
16	3092668	C	T	C3092668T	ZSCAN10	NM_032805.3(ZSCAN10):c.270G>A:p.Glu90=	coding	Benign
16	3092818	G	C	G3092818C	ZSCAN10	NM_032805.3(ZSCAN10):c.120C>G:p.Pro40=	coding	Benign
16	3092910	C	G	C3092910G	ZSCAN10	NM_032805.3(ZSCAN10):c.28G>C:p.Val10Leu	coding	Benign
16	3137430	A	G	A3137430G	ZNF213	NM_004220.3(ZNF213):c.150A>G:p.Gln50=	coding	Benign
16	3138779	C	T	C3138779T	ZNF213	NM_004220.3(ZNF213):c.558C>T:p.Pro186=	coding	Benign
16	3204424	T	C	T3204424C	OR1F1	NM_012360.2(OR1F1):c.178T>C:p.Tyr60His	coding	Benign
16	3204611	A	G	A3204611G	OR1F1	NM_012360.2(OR1F1):c.365A>G:p.His122Arg	coding	Benign
16	3204622	G	A	G3204622A	OR1F1	NM_012360.2(OR1F1):c.376G>A:p.Val126Met	coding	Benign
16	3242874	C	T	C3242874T	MEFV	NM_000243.2(MEFV):c.*267G>A	noncoding	Benign/Likely_benign
16	3242896	C	T	C3242896T	MEFV	NM_000243.2(MEFV):c.*245G>A	noncoding	Benign/Likely_benign
16	3243008	C	T	C3243008T	MEFV	NM_000243.2(MEFV):c.*133G>A	noncoding	Benign/Likely_benign
16	3243310	A	G	A3243310G	MEFV	NM_000243.3(MEFV):c.2177T>C:p.Val726Ala	coding	Pathogenic/Likely_pathogenic
16	3243324	G	A	G3243324A	MEFV	NM_000243.2(MEFV):c.2163C>T:p.Phe721=	coding	Benign/Likely_benign
16	3243384	C	T	C3243384T	MEFV	NM_000243.2(MEFV):c.2103G>A:p.Ala701=	coding	Benign
16	3243447	C	G	C3243447G	MEFV	NM_000243.2(MEFV):c.2040G>C:p.Met680Ile	coding	Pathogenic
16	3243888	C	T	C3243888T	MEFV	NM_000243.2(MEFV):c.1764=:p.Pro588=	coding	Benign
16	3243920	A	T	A3243920T	MEFV	NM_000243.2(MEFV):c.1760-28T>A	coding	Benign
16	3243922	A	T	A3243922T	MEFV	NM_000243.2(MEFV):c.1760-30T>A	coding	Benign
16	3244246	G	A	G3244246A	MEFV	NM_000243.2(MEFV):c.1759+8C>T	noncoding	Benign/Likely_benign
16	3244253	C	T	C3244253T	MEFV	NM_000243.2(MEFV):c.1759+1G>A	noncoding	Pathogenic
16	3244678	G	A	G3244678A	MEFV	NM_000243.2(MEFV):c.1611-90C>T	noncoding	Benign
16	3244931	A	C	A3244931C	MEFV	NM_000243.2(MEFV):c.1611-343T>G	noncoding	Benign
16	3246429	G	A	G3246429A	MEFV	NM_000243.2(MEFV):c.1610+96C>T	noncoding	Benign
16	3246616	C	T	C3246616T	MEFV	NM_000243.2(MEFV):c.1588-69G>A	noncoding	Benign
16	3246998	G	A	G3246998A	MEFV	NM_000243.2(MEFV):c.1587+18C>T	noncoding	Benign/Likely_benign
16	3247073	A	G	A3247073G	MEFV	NM_000243.2(MEFV):c.1530T>C:p.Asp510=	coding	Benign
16	3247085	G	A	G3247085A	MEFV	NM_000243.2(MEFV):c.1518C>T:p.Ile506=	coding	Benign/Likely_benign
16	3247100	G	A	G3247100A	MEFV	NM_000243.2(MEFV):c.1503C>T:p.Arg501=	coding	Benign
16	3247175	T	C	T3247175C	MEFV	NM_000243.2(MEFV):c.1428A>G:p.Gln476=	coding	Benign
16	3247181	C	T	C3247181T	MEFV	NM_000243.2(MEFV):c.1422G>A:p.Glu474=	coding	Benign
16	3248642	G	A	G3248642A	MEFV	NM_000243.2(MEFV):c.1356+267C>T	noncoding	Benign
16	3248897	C	G	C3248897G	MEFV	NM_000243.2(MEFV):c.1356+12G>C	noncoding	Benign
16	3249032	T	C	T3249032C	MEFV	NM_000243.2(MEFV):c.1261-28A>G	noncoding	Benign
16	3249480	T	C	T3249480C	MEFV	NM_000243.2(MEFV):c.1211A>G:p.His404Arg	coding	Pathogenic
16	3249592	G	C	G3249592C	MEFV	NM_000243.2(MEFV):c.1099C>G:p.Leu367Val	coding	Pathogenic
16	3249599	C	A	C3249599A	MEFV	NM_000243.2(MEFV):c.1092G>T:p.Pro364=	coding	Benign/Likely_benign
16	3249749	G	A	G3249749A	MEFV	NM_000243.2(MEFV):c.942C>T:p.Arg314=	coding	Benign
16	3254242	C	A	C3254242A	MEFV	NM_000243.2(MEFV):c.826G>T:p.Glu276Ter	coding	Pathogenic
16	3254338	C	T	C3254338T	MEFV	NM_000243.3(MEFV):c.730G>A:p.Glu244Lys	coding	Pathogenic
16	3254405	C	G	C3254405G	MEFV	NM_000243.2(MEFV):c.663G>C:p.Pro221=	coding	Benign/Likely_benign
16	3254463	C	T	C3254463T	MEFV	NM_000243.2(MEFV):c.605G>A:p.Arg202Gln	coding	Benign
16	3254573	G	T	G3254573T	MEFV	NM_000243.2(MEFV):c.495C>A:p.Ala165=	coding	Benign
16	3254654	T	C	T3254654C	MEFV	NM_000243.2(MEFV):c.414A>G:p.Gly138=	coding	Benign
16	3254735	C	T	C3254735T	MEFV	NM_000243.2(MEFV):c.333G>A:p.Gly111=	coding	Benign/Likely_benign
16	3254736	C	T	C3254736T	MEFV	NM_000243.2(MEFV):c.332G>A:p.Gly111Glu	coding	Pathogenic
16	3254762	A	G	A3254762G	MEFV	NM_000243.2(MEFV):c.306T>C:p.Asp102=	coding	Benign
16	3256374	G	A	G3256374A	MEFV	NM_000243.3(MEFV):c.214C>T:p.Gln72Ter	coding	Pathogenic
16	3257201	G	C	G3257201C	MEFV	NM_000243.2(MEFV):c.-614C>G	noncoding	Benign
16	3298985	T	C	T3298985C	TIGD7	NM_033208.4(TIGD7):c.1630A>G:p.Thr544Ala	coding	Benign
16	3300078	T	C	T3300078C	TIGD7	NM_033208.4(TIGD7):c.537A>G:p.Glu179=	coding	Benign
16	3300180	G	C	G3300180C	TIGD7	NM_033208.4(TIGD7):c.435C>G:p.Val145=	coding	Benign
16	3436577	G	A	G3436577A	ZNF597	NM_152457.3(ZNF597):c.1122C>T:p.Cys374=	coding	Benign
16	3436736	G	A	G3436736A	ZNF597	NM_152457.3(ZNF597):c.963C>T:p.Asp321=	coding	Benign
16	3484780	C	G	C3484780G	NAA60	NM_001083601.3(NAA60):c.654C>G:p.His218Gln	coding	Benign
16	3506398	G	T	G3506398T	CLUAP1	NM_015041.3(CLUAP1):c.202G>T:p.Ala68Ser	coding	Benign
16	3512380	C	T	C3512380T	CLUAP1	NM_015041.3(CLUAP1):c.400-3C>T	noncoding	Benign
16	3523261	C	T	C3523261T	CLUAP1	NM_015041.3(CLUAP1):c.817C>T:p.Leu273Phe	coding	Pathogenic
16	3526475	A	C	A3526475C	CLUAP1	NM_015041.3(CLUAP1):c.919A>C:p.Lys307Gln	coding	Benign
16	3563450	C	T	C3563450T	NLRC3	NM_178844.4(NLRC3):c.1487G>A:p.Arg496Lys	coding	Benign
16	3563719	A	G	A3563719G	NLRC3	NM_178844.4(NLRC3):c.1218T>C:p.His406=	coding	Benign
16	3564058	C	A	C3564058A	NLRC3	NM_178844.4(NLRC3):c.879G>T:p.Glu293Asp	coding	Benign
16	3564079	G	C	G3564079C	NLRC3	NM_178844.4(NLRC3):c.858C>G:p.Ile286Met	coding	Benign
16	3564763	G	A	G3564763A	NLRC3	NM_178844.4(NLRC3):c.179-5C>T	noncoding	Benign
16	3581247	C	T	C3581247T	SLX4	NM_032444.4(SLX4):c.*1095G>A	noncoding	Benign
16	3581320	T	C	T3581320C	SLX4	NM_032444.4(SLX4):c.*1022A>G	noncoding	Benign
16	3581338	T	C	T3581338C	SLX4	NM_032444.4(SLX4):c.*1004A>G	noncoding	Benign
16	3581358	G	A	G3581358A	SLX4	NM_032444.4(SLX4):c.*984C>T	noncoding	Benign
16	3581535	C	T	C3581535T	SLX4	NM_032444.4(SLX4):c.*807G>A	noncoding	Benign
16	3581621	A	G	A3581621G	SLX4	NM_032444.4(SLX4):c.*721T>C	noncoding	Benign
16	3581687	C	T	C3581687T	SLX4	NM_032444.4(SLX4):c.*655G>A	noncoding	Benign
16	3581787	G	A	G3581787A	SLX4	NM_032444.4(SLX4):c.*555C>T	noncoding	Benign
16	3582229	G	A	G3582229A	SLX4	NM_032444.4(SLX4):c.*113C>T	noncoding	Benign
16	3582334	T	C	T3582334C	SLX4	NM_032444.4(SLX4):c.*8A>G	noncoding	Benign
16	3582346	T	C	T3582346C	SLX4	NM_032444.4(SLX4):c.5501A>G:p.Asn1834Ser	coding	Benign/Likely_benign
16	3582566	G	A	G3582566A	SLX4	NM_032444.4(SLX4):c.5281C>T:p.Arg1761Cys	coding	Benign
16	3582588	G	A	G3582588A	SLX4	NM_032444.4(SLX4):c.5259C>T:p.Asp1753=	coding	Benign
16	3583104	A	T	A3583104T	SLX4	NM_032444.4(SLX4):c.5146T>A:p.Ser1716Thr	coding	Benign/Likely_benign
16	3583221	G	A	G3583221A	SLX4	NM_032444.4(SLX4):c.5029C>T:p.Pro1677Ser	coding	Benign/Likely_benign
16	3584860	G	A	G3584860A	SLX4	NM_032444.4(SLX4):c.4648C>T:p.Arg1550Trp	coding	Benign/Likely_benign
16	3589038	C	T	C3589038T	SLX4	NM_032444.4(SLX4):c.4600G>A:p.Gly1534Ser	coding	Benign
16	3589057	C	T	C3589057T	SLX4	NM_032444.4(SLX4):c.4581G>A:p.Pro1527=	coding	Benign
16	3589138	A	G	A3589138G	SLX4	NM_032444.4(SLX4):c.4500T>C:p.Asn1500=	coding	Benign
16	3589159	C	T	C3589159T	SLX4	NM_032444.4(SLX4):c.4479G>A:p.Ser1493=	coding	Benign
16	3589300	G	A	G3589300A	SLX4	NM_032444.4(SLX4):c.4338C>T:p.Thr1446=	coding	Benign/Likely_benign
16	3589397	G	A	G3589397A	SLX4	NM_032444.4(SLX4):c.4241C>T:p.Pro1414Leu	coding	Benign
16	3589482	G	A	G3589482A	SLX4	NM_032444.4(SLX4):c.4156C>T:p.Gln1386Ter	coding	Pathogenic
16	3589523	C	T	C3589523T	SLX4	NM_032444.4(SLX4):c.4115G>A:p.Arg1372Gln	coding	Benign/Likely_benign
16	3589570	C	T	C3589570T	SLX4	NM_032444.4(SLX4):c.4068G>A:p.Pro1356=	coding	Benign
16	3589675	C	T	C3589675T	SLX4	NM_032444.4(SLX4):c.3963G>A:p.Pro1321=	coding	Benign
16	3589683	G	A	G3589683A	SLX4	NM_032444.4(SLX4):c.3955C>T:p.Gln1319Ter	coding	Pathogenic
16	3589770	G	T	G3589770T	SLX4	NM_032444.4(SLX4):c.3868C>A:p.His1290Asn	coding	Benign
16	3589781	G	A	G3589781A	SLX4	NM_032444.4(SLX4):c.3857C>T:p.Ala1286Val	coding	Benign/Likely_benign
16	3589826	G	A	G3589826A	SLX4	NM_032444.4(SLX4):c.3812C>T:p.Ser1271Phe	coding	Benign
16	3589855	C	T	C3589855T	SLX4	NM_032444.4(SLX4):c.3783G>A:p.Pro1261=	coding	Benign
16	3589876	C	T	C3589876T	SLX4	NM_032444.4(SLX4):c.3762G>A:p.Ser1254=	coding	Benign/Likely_benign
16	3589962	G	A	G3589962A	SLX4	NM_032444.4(SLX4):c.3676C>T:p.Arg1226Trp	coding	Benign
16	3589976	G	A	G3589976A	SLX4	NM_032444.4(SLX4):c.3662C>T:p.Ala1221Val	coding	Benign
16	3590273	G	A	G3590273A	SLX4	NM_032444.4(SLX4):c.3365C>T:p.Pro1122Leu	coding	Benign
16	3590323	G	A	G3590323A	SLX4	NM_032444.4(SLX4):c.3315C>T:p.Ser1105=	coding	Benign
16	3590393	T	C	T3590393C	SLX4	NM_032444.4(SLX4):c.3245A>G:p.Gln1082Arg	coding	Benign/Likely_benign
16	3590476	C	T	C3590476T	SLX4	NM_032444.4(SLX4):c.3162G>A:p.Ser1054=	coding	Benign
16	3590529	A	G	A3590529G	SLX4	NM_032444.4(SLX4):c.3109T>C:p.Leu1037=	coding	Benign
16	3590714	G	A	G3590714A	SLX4	NM_032444.4(SLX4):c.2924C>T:p.Pro975Leu	coding	Benign
16	3590783	G	A	G3590783A	SLX4	NM_032444.4(SLX4):c.2855C>T:p.Ala952Val	coding	Benign
16	3590784	C	T	C3590784T	SLX4	NM_032444.4(SLX4):c.2854G>A:p.Ala952Thr	coding	Benign
16	3590794	C	T	C3590794T	SLX4	NM_032444.4(SLX4):c.2844G>A:p.Ala948=	coding	Benign/Likely_benign
16	3590814	C	G	C3590814G	SLX4	NM_032444.4(SLX4):c.2824G>C:p.Glu942Gln	coding	Benign/Likely_benign
16	3590852	G	A	G3590852A	SLX4	NM_032444.4(SLX4):c.2786C>T:p.Pro929Leu	coding	Benign
16	3590892	C	A	C3590892A	SLX4	NM_032444.4(SLX4):c.2746G>T:p.Ala916Ser	coding	Benign/Likely_benign
16	3591010	G	A	G3591010A	SLX4	NM_032444.4(SLX4):c.2628C>T:p.Asp876=	coding	Benign/Likely_benign
16	3591319	C	G	C3591319G	SLX4	NM_032444.4(SLX4):c.2328-9G>C	noncoding	Benign
16	3594403	G	A	G3594403A	SLX4	NM_032444.4(SLX4):c.2160+50C>T	noncoding	Benign
16	3594476	G	A	G3594476A	SLX4	NM_032444.4(SLX4):c.2137C>T:p.Arg713Ter	coding	Pathogenic
16	3594579	A	C	A3594579C	SLX4	NM_032444.4(SLX4):c.2034T>G:p.Val678=	coding	Benign/Likely_benign
16	3595582	C	T	C3595582T	SLX4	NM_032444.4(SLX4):c.2013+23G>A	noncoding	Benign
16	3595603	A	T	A3595603T	SLX4	NM_032444.4(SLX4):c.2013+2T>A	noncoding	Pathogenic
16	3595606	A	G	A3595606G	SLX4	NM_032444.4(SLX4):c.2012T>C:p.Leu671Ser	coding	Benign
16	3595723	C	T	C3595723T	SLX4	NM_032444.4(SLX4):c.1925-30G>A	noncoding	Benign
16	3596179	C	T	C3596179T	SLX4	NM_032444.4(SLX4):c.1898G>A:p.Gly633Asp	coding	Benign/Likely_benign
16	3596274	C	T	C3596274T	SLX4	NM_032444.4(SLX4):c.1803G>A:p.Ser601=	coding	Benign
16	3596275	G	A	G3596275A	SLX4	NM_032444.4(SLX4):c.1802C>T:p.Ser601Leu	coding	Benign
16	3596322	G	A	G3596322A	SLX4	NM_032444.4(SLX4):c.1755C>T:p.Pro585=	coding	Benign
16	3597524	C	T	C3597524T	SLX4	NM_032444.4(SLX4):c.1538G>A:p.Trp513Ter	coding	Pathogenic
16	3597551	G	C	G3597551C	SLX4	NM_032444.4(SLX4):c.1511C>G:p.Pro504Arg	coding	Benign
16	3597691	A	C	A3597691C	SLX4	NM_032444.4(SLX4):c.1371T>G:p.Asn457Lys	coding	Benign/Likely_benign
16	3597697	T	C	T3597697C	SLX4	NM_032444.4(SLX4):c.1367-2A>G	noncoding	Pathogenic
16	3597786	A	G	A3597786G	SLX4	NM_032444.4(SLX4):c.1366+11T>C	noncoding	Benign
16	3597936	C	T	C3597936T	SLX4	NM_032444.4(SLX4):c.1227G>A:p.Lys409=	coding	Benign
16	3600969	G	A	G3600969A	SLX4	NM_032444.4(SLX4):c.1163+10C>T	noncoding	Benign
16	3600969	G	C	G3600969C	SLX4	NM_032444.4(SLX4):c.1163+10C>G	noncoding	Benign
16	3600977	A	T	A3600977T	SLX4	NM_032444.4(SLX4):c.1163+2T>A	noncoding	Pathogenic
16	3600986	T	C	T3600986C	SLX4	NM_032444.4(SLX4):c.1156A>G:p.Met386Val	coding	Benign
16	3600989	G	T	G3600989T	SLX4	NM_032444.4(SLX4):c.1153C>A:p.Pro385Thr	coding	Benign/Likely_benign
16	3600990	T	C	T3600990C	SLX4	NM_032444.4(SLX4):c.1152A>G:p.Pro384=	coding	Benign
16	3601143	G	A	G3601143A	SLX4	NM_032444.4(SLX4):c.999C>T:p.Ile333=	coding	Benign
16	3606481	C	T	C3606481T	SLX4	NM_032444.4(SLX4):c.753G>A:p.Ala251=	coding	Benign
16	3606516	T	C	T3606516C	SLX4	NM_032444.4(SLX4):c.718A>G:p.Asn240Asp	coding	Benign/Likely_benign
16	3606524	C	T	C3606524T	SLX4	NM_032444.4(SLX4):c.710G>A:p.Arg237Gln	coding	Benign/Likely_benign
16	3606556	G	A	G3606556A	SLX4	NM_032444.4(SLX4):c.678C>T:p.His226=	coding	Benign
16	3606624	G	A	G3606624A	SLX4	NM_032444.4(SLX4):c.610C>T:p.Arg204Cys	coding	Benign
16	3606675	G	A	G3606675A	SLX4	NM_032444.4(SLX4):c.559C>T:p.Gln187Ter	coding	Pathogenic
16	3606679	G	A	G3606679A	SLX4	NM_032444.4(SLX4):c.555C>T:p.Asp185=	coding	Benign
16	3608629	C	T	C3608629T	SLX4	NM_032444.4(SLX4):c.336G>A:p.Pro112=	coding	Benign
16	3608875	G	A	G3608875A	SLX4	NM_032444.4(SLX4):c.90C>T:p.Ser30=	coding	Benign
16	3609068	T	C	T3609068C	SLX4	NM_032444.4(SLX4):c.-104A>G	noncoding	Benign
16	3656696	G	A	G3656696A	DNASE1	NM_005223.3(DNASE1):c.379G>A:p.Gly127Arg	coding	Benign
16	3657261	G	A	G3657261A	DNASE1	NM_005223.3(DNASE1):c.624G>A:p.Leu208=	coding	Benign
16	3657762	C	T	C3657762T	DNASE1	NM_005223.3(DNASE1):c.747C>T:p.Pro249=	coding	Benign
16	3658129	T	G	T3658129G	TRAP1	NM_016292.3(TRAP1):c.2115A>C:p.Ter705Cys	coding	Benign
16	3658192	G	A	G3658192A	TRAP1	NM_016292.3(TRAP1):c.2052C>T:p.Asp684=	coding	Benign
16	3664371	C	T	C3664371T	TRAP1	NM_016292.3(TRAP1):c.1472G>A:p.Arg491Gln	coding	Benign
16	3671772	G	C	G3671772C	TRAP1	NM_016292.3(TRAP1):c.1185C>G:p.Asp395Glu	coding	Benign
16	3674329	A	G	A3674329G	TRAP1	NM_016292.3(TRAP1):c.1044+10T>C	noncoding	Benign
16	3674351	G	A	G3674351A	TRAP1	NM_016292.3(TRAP1):c.1032C>T:p.Tyr344=	coding	Benign
16	3674464	G	C	G3674464C	TRAP1	NM_016292.3(TRAP1):c.919C>G:p.Arg307Gly	coding	Benign
16	3676159	A	G	A3676159G	TRAP1	NM_016292.3(TRAP1):c.705-14T>C	noncoding	Benign
16	3677536	T	C	T3677536C	TRAP1	NM_016292.3(TRAP1):c.666A>G:p.Ala222=	coding	Benign
16	3677608	G	A	G3677608A	TRAP1	NM_016292.3(TRAP1):c.594C>T:p.Ile198=	coding	Benign
16	3679713	G	A	G3679713A	TRAP1	NM_016292.3(TRAP1):c.543+6C>T	noncoding	Benign
16	3686146	T	C	T3686146C	TRAP1	NM_016292.3(TRAP1):c.331-10A>G	noncoding	Benign
16	3690990	A	G	A3690990G	TRAP1	NM_016292.3(TRAP1):c.89-5T>C	noncoding	Benign
16	3717472	G	A	G3717472A	TRAP1	NM_016292.3(TRAP1):c.37C>T:p.Arg13Cys	coding	Benign
16	3727745	C	T	C3727745T	CREBBP	NM_004380.3(CREBBP):c.7302G>A:p.Thr2434=	coding	Benign/Likely_benign
16	3727835	T	C	T3727835C	CREBBP	NM_004380.3(CREBBP):c.7212A>G:p.Glu2404=	coding	Benign
16	3727949	C	G	C3727949G	CREBBP	NM_004380.3(CREBBP):c.7098G>C:p.Arg2366=	coding	Benign
16	3727958	C	T	C3727958T	CREBBP	NM_004380.3(CREBBP):c.7089G>A:p.Pro2363=	coding	Benign
16	3728198	G	A	G3728198A	CREBBP	NM_004380.3(CREBBP):c.6849C>T:p.Ser2283=	coding	Benign/Likely_benign
16	3728336	G	A	G3728336A	CREBBP	NM_004380.3(CREBBP):c.6711C>T:p.Pro2237=	coding	Benign
16	3728362	C	T	C3728362T	CREBBP	NM_004380.3(CREBBP):c.6685G>A:p.Gly2229Ser	coding	Benign
16	3728423	T	C	T3728423C	CREBBP	NM_004380.3(CREBBP):c.6624A>G:p.Gln2208=	coding	Benign
16	3728423	T	G	T3728423G	CREBBP	NM_004380.3(CREBBP):c.6624A>C:p.Gln2208His	coding	Benign/Likely_benign
16	3728426	T	C	T3728426C	CREBBP	NM_004380.3(CREBBP):c.6621A>G:p.Gln2207=	coding	Benign
16	3728438	T	C	T3728438C	CREBBP	NM_004380.3(CREBBP):c.6609A>G:p.Gln2203=	coding	Benign/Likely_benign
16	3728483	C	T	C3728483T	CREBBP	NM_004380.3(CREBBP):c.6564G>A:p.Gln2188=	coding	Benign/Likely_benign
16	3728611	G	A	G3728611A	CREBBP	NM_004380.3(CREBBP):c.6436C>T:p.Gln2146Ter	coding	Pathogenic
16	3728803	G	A	G3728803A	CREBBP	NM_004380.3(CREBBP):c.6244C>T:p.Gln2082Ter	coding	Pathogenic
16	3728806	G	A	G3728806A	CREBBP	NM_004380.3(CREBBP):c.6241C>T:p.Gln2081Ter	coding	Pathogenic
16	3728852	G	A	G3728852A	CREBBP	NM_004380.3(CREBBP):c.6195C>T:p.Ser2065=	coding	Benign/Likely_benign
16	3728909	C	T	C3728909T	CREBBP	NM_004380.3(CREBBP):c.6138G>A:p.Ala2046=	coding	Benign
16	3728959	G	A	G3728959A	CREBBP	NM_004380.3(CREBBP):c.6088C>T:p.Gln2030Ter	coding	Pathogenic
16	3729037	G	A	G3729037A	CREBBP	NM_004380.3(CREBBP):c.6010C>T:p.Arg2004Ter	coding	Pathogenic
16	3729044	A	G	A3729044G	CREBBP	NM_004380.3(CREBBP):c.6003T>C:p.Asn2001=	coding	Benign/Likely_benign
16	3729059	G	A	G3729059A	CREBBP	NM_004380.3(CREBBP):c.5988C>T:p.Ala1996=	coding	Benign
16	3729114	T	C	T3729114C	CREBBP	NM_004380.3(CREBBP):c.5933A>G:p.Asn1978Ser	coding	Benign
16	3729142	G	A	G3729142A	CREBBP	NM_004380.3(CREBBP):c.5905C>T:p.Gln1969Ter	coding	Pathogenic
16	3729182	C	T	C3729182T	CREBBP	NM_004380.3(CREBBP):c.5865G>A:p.Ala1955=	coding	Benign/Likely_benign
16	3729226	G	A	G3729226A	CREBBP	NM_004380.3(CREBBP):c.5821C>T:p.Gln1941Ter	coding	Pathogenic
16	3729377	G	A	G3729377A	CREBBP	NM_004380.3(CREBBP):c.5670C>T:p.Pro1890=	coding	Benign
16	3729433	T	C	T3729433C	CREBBP	NM_004380.3(CREBBP):c.5614A>G:p.Met1872Val	coding	Pathogenic/Likely_pathogenic
16	3729444	C	T	C3729444T	CREBBP	NM_004380.3(CREBBP):c.5603G>A:p.Arg1868Gln	coding	Pathogenic/Likely_pathogenic
16	3729445	G	A	G3729445A	CREBBP	NM_004380.3(CREBBP):c.5602C>T:p.Arg1868Trp	coding	Pathogenic
16	3729447	C	T	C3729447T	CREBBP	NM_004380.3(CREBBP):c.5600G>A:p.Arg1867Gln	coding	Pathogenic
16	3729448	G	A	G3729448A	CREBBP	NM_004380.3(CREBBP):c.5599C>T:p.Arg1867Trp	coding	Pathogenic
16	3729593	C	T	C3729593T	CREBBP	NM_004380.3(CREBBP):c.5454G>A:p.Val1818=	coding	Benign
16	3729611	G	C	G3729611C	CREBBP	NM_004380.3(CREBBP):c.5436C>G:p.Thr1812=	coding	Benign/Likely_benign
16	3729686	G	T	G3729686T	CREBBP	NM_004380.3(CREBBP):c.5361C>A:p.Asn1787Lys	coding	Pathogenic
16	3729691	G	A	G3729691A	CREBBP	NM_004380.3(CREBBP):c.5356C>T:p.Arg1786Cys	coding	Pathogenic/Likely_pathogenic
16	3729776	G	A	G3729776A	CREBBP	NM_004380.3(CREBBP):c.5271C>T:p.Gly1757=	coding	Benign/Likely_benign
16	3731194	C	T	C3731194T	CREBBP	NM_004380.3(CREBBP):c.5170G>A:p.Glu1724Lys	coding	Pathogenic
16	3731235	C	T	C3731235T	CREBBP	NM_004380.3(CREBBP):c.5129G>A:p.Cys1710Tyr	coding	Pathogenic
16	3731236	A	G	A3731236G	CREBBP	NM_004380.3(CREBBP):c.5128T>C:p.Cys1710Arg	coding	Pathogenic
16	3731249	G	A	G3731249A	CREBBP	NM_004380.3(CREBBP):c.5115C>T:p.Tyr1705=	coding	Benign
16	3731312	G	A	G3731312A	CREBBP	NM_004380.3(CREBBP):c.5052C>T:p.Ser1684=	coding	Benign
16	3731336	C	T	C3731336T	CREBBP	NM_004380.3(CREBBP):c.5028G>A:p.Trp1676Ter	coding	Pathogenic
16	3731337	C	T	C3731337T	CREBBP	NM_004380.3(CREBBP):c.5027G>A:p.Trp1676Ter	coding	Pathogenic
16	3731350	T	A	T3731350A	CREBBP	NM_004380.3(CREBBP):c.5014A>T:p.Arg1672Ter	coding	Pathogenic
16	3731372	G	A	G3731372A	CREBBP	NM_004380.3(CREBBP):c.4992C>T:p.Arg1664=	coding	Benign
16	3731775	C	T	C3731775T	CREBBP	NM_004380.3(CREBBP):c.4890+1G>A	noncoding	Pathogenic
16	3731844	G	T	G3731844T	CREBBP	NM_004380.3(CREBBP):c.4822C>A:p.Pro1608Thr	coding	Benign
16	3731926	G	A	G3731926A	CREBBP	NM_004380.3(CREBBP):c.4740C>T:p.Gly1580=	coding	Benign
16	3731951	C	G	C3731951G	CREBBP	NM_004380.3(CREBBP):c.4729-14G>C	noncoding	Benign
16	3736092	G	A	G3736092A	CREBBP	NM_004380.3(CREBBP):c.4672C>T:p.Gln1558Ter	coding	Pathogenic
16	3736101	C	A	C3736101A	CREBBP	NM_004380.3(CREBBP):c.4663G>T:p.Glu1555Ter	coding	Pathogenic
16	3736104	T	A	T3736104A	CREBBP	NM_004380.3(CREBBP):c.4660A>T:p.Lys1554Ter	coding	Pathogenic
16	3736636	T	C	T3736636C	CREBBP	NM_004380.3(CREBBP):c.4560+14A>G	noncoding	Benign
16	3736643	C	T	C3736643T	CREBBP	NM_004380.3(CREBBP):c.4560+7G>A	noncoding	Benign
16	3736651	T	C	T3736651C	CREBBP	NM_004380.3(CREBBP):c.4559A>G:p.Lys1520Arg	coding	Pathogenic
16	3736701	G	C	G3736701C	CREBBP	NM_004380.3(CREBBP):c.4509C>G:p.Tyr1503Ter	coding	Pathogenic
16	3736702	T	C	T3736702C	CREBBP	NM_004380.3(CREBBP):c.4508A>G:p.Tyr1503Cys	coding	Pathogenic
16	3736716	T	C	T3736716C	CREBBP	NM_004380.3(CREBBP):c.4494A>G:p.Arg1498=	coding	Benign/Likely_benign
16	3736718	G	A	G3736718A	CREBBP	NM_004380.3(CREBBP):c.4492C>T:p.Arg1498Ter	coding	Pathogenic
16	3736766	A	C	A3736766C	CREBBP	NM_004380.3(CREBBP):c.4444T>G:p.Tyr1482Asp	coding	Pathogenic
16	3736771	T	C	T3736771C	CREBBP	NM_004380.3(CREBBP):c.4439A>G:p.Asp1480Gly	coding	Pathogenic/Likely_pathogenic
16	3736801	T	C	T3736801C	CREBBP	NM_004380.3(CREBBP):c.4409A>G:p.His1470Arg	coding	Pathogenic
16	3736812	A	T	A3736812T	CREBBP	NM_004380.3(CREBBP):c.4398T>A:p.Tyr1466Ter	coding	Pathogenic
16	3738559	C	T	C3738559T	CREBBP	NM_004380.3(CREBBP):c.4394G>A:p.Gly1465Glu	coding	Pathogenic
16	3738560	C	T	C3738560T	CREBBP	NM_004380.3(CREBBP):c.4393G>A:p.Gly1465Arg	coding	Pathogenic
16	3738603	G	A	G3738603A	CREBBP	NM_004380.3(CREBBP):c.4350C>T:p.Tyr1450=	coding	Benign/Likely_benign
16	3738605	A	G	A3738605G	CREBBP	NM_004380.3(CREBBP):c.4348T>C:p.Tyr1450His	coding	Pathogenic
16	3738663	G	T	G3738663T	CREBBP	NM_004380.3(CREBBP):c.4290C>A:p.Tyr1430Ter	coding	Pathogenic
16	3739615	G	A	G3739615A	CREBBP	NM_004380.3(CREBBP):c.4243C>T:p.Gln1415Ter	coding	Pathogenic
16	3739684	G	A	G3739684A	CREBBP	NM_004380.3(CREBBP):c.4174C>T:p.Arg1392Ter	coding	Pathogenic
16	3740380	A	G	A3740380G	CREBBP	NM_004380.3(CREBBP):c.4133+19T>C	noncoding	Benign/Likely_benign
16	3740390	C	T	C3740390T	CREBBP	NM_004380.3(CREBBP):c.4133+9G>A	noncoding	Benign
16	3740395	T	C	T3740395C	CREBBP	NM_004380.3(CREBBP):c.4133+4A>G	noncoding	Benign/Likely_benign
16	3740398	C	T	C3740398T	CREBBP	NM_004380.3(CREBBP):c.4133+1G>A	noncoding	Pathogenic
16	3740399	C	G	C3740399G	CREBBP	NM_004380.3(CREBBP):c.4133G>C:p.Arg1378Pro	coding	Pathogenic
16	3740413	G	A	G3740413A	CREBBP	NM_004380.3(CREBBP):c.4119C>T:p.Pro1373=	coding	Benign
16	3740454	G	A	G3740454A	CREBBP	NM_004380.3(CREBBP):c.4078C>T:p.Arg1360Ter	coding	Pathogenic
16	3740487	G	A	G3740487A	CREBBP	NM_004380.3(CREBBP):c.4045C>T:p.Gln1349Ter	coding	Pathogenic
16	3740551	T	C	T3740551C	CREBBP	NM_004380.3(CREBBP):c.3983-2A>G	noncoding	Pathogenic
16	3744885	G	A	G3744885A	CREBBP	NM_004380.3(CREBBP):c.3982+9C>T	noncoding	Benign
16	3744893	C	T	C3744893T	CREBBP	NM_004380.3(CREBBP):c.3982+1G>A	noncoding	Pathogenic
16	3744921	G	A	G3744921A	CREBBP	NM_004380.3(CREBBP):c.3955C>T:p.Arg1319Ter	coding	Pathogenic
16	3745276	C	A	C3745276A	CREBBP	NM_004380.3(CREBBP):c.3914+1G>T	noncoding	Pathogenic
16	3745276	C	T	C3745276T	CREBBP	NM_004380.3(CREBBP):c.3914+1G>A	noncoding	Pathogenic
16	3745291	G	T	G3745291T	CREBBP	NM_004380.3(CREBBP):c.3900C>A:p.Ile1300=	coding	Benign
16	3745356	T	A	T3745356A	CREBBP	NM_004380.3(CREBBP):c.3837-2A>T	noncoding	Pathogenic
16	3745362	G	A	G3745362A	CREBBP	NM_004380.3(CREBBP):c.3837-8C>T	noncoding	Benign
16	3749626	C	G	C3749626G	CREBBP	NM_004380.3(CREBBP):c.3836+1G>C	noncoding	Pathogenic
16	3749626	C	T	C3749626T	CREBBP	NM_004380.3(CREBBP):c.3836+1G>A	noncoding	Pathogenic
16	3749631	C	T	C3749631T	CREBBP	NM_004380.3(CREBBP):c.3832G>A:p.Glu1278Lys	coding	Pathogenic/Likely_pathogenic
16	3749632	G	A	G3749632A	CREBBP	NM_004380.3(CREBBP):c.3831C>T:p.Pro1277=	coding	Benign/Likely_benign
16	3751725	C	A	C3751725A	CREBBP	NM_004380.3(CREBBP):c.3779+1G>T	noncoding	Pathogenic
16	3751725	C	G	C3751725G	CREBBP	NM_004380.3(CREBBP):c.3779+1G>C	noncoding	Pathogenic
16	3751725	C	T	C3751725T	CREBBP	NM_004380.3(CREBBP):c.3779+1G>A	noncoding	Pathogenic
16	3757281	C	T	C3757281T	CREBBP	NM_004380.3(CREBBP):c.3698+7G>A	noncoding	Benign/Likely_benign
16	3757296	A	C	A3757296C	CREBBP	NM_004380.3(CREBBP):c.3690T>G:p.Tyr1230Ter	coding	Pathogenic
16	3757361	G	A	G3757361A	CREBBP	NM_004380.3(CREBBP):c.3625C>T:p.Gln1209Ter	coding	Pathogenic
16	3757373	C	A	C3757373A	CREBBP	NM_004380.3(CREBBP):c.3613G>T:p.Glu1205Ter	coding	Pathogenic
16	3757377	C	G	C3757377G	CREBBP	NM_004380.3(CREBBP):c.3610-1G>C	coding	Pathogenic
16	3757378	T	C	T3757378C	CREBBP	NM_004380.3(CREBBP):c.3610-2A>G	noncoding	Pathogenic
16	3757808	C	T	C3757808T	CREBBP	NM_004380.3(CREBBP):c.3609+1G>A	noncoding	Pathogenic
16	3757982	G	A	G3757982A	CREBBP	NM_004380.3(CREBBP):c.3436C>T:p.Gln1146Ter	coding	Pathogenic
16	3758853	C	A	C3758853A	CREBBP	NM_004380.3(CREBBP):c.3369+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	3758853	C	T	C3758853T	CREBBP	NM_004380.3(CREBBP):c.3369+1G>A	noncoding	Pathogenic
16	3758886	G	A	G3758886A	CREBBP	NM_004380.3(CREBBP):c.3337C>T:p.Gln1113Ter	coding	Pathogenic
16	3758913	G	A	G3758913A	CREBBP	NM_004380.3(CREBBP):c.3310C>T:p.Gln1104Ter	coding	Pathogenic
16	3767812	G	A	G3767812A	CREBBP	NM_004380.3(CREBBP):c.3158C>T:p.Pro1053Leu	coding	Benign
16	3767842	G	A	G3767842A	CREBBP	NM_004380.3(CREBBP):c.3128C>T:p.Ser1043Leu	coding	Benign
16	3767873	T	A	T3767873A	CREBBP	NM_004380.3(CREBBP):c.3097A>T:p.Lys1033Ter	coding	Pathogenic
16	3767910	C	A	C3767910A	CREBBP	NM_004380.3(CREBBP):c.3061-1G>T	coding	Pathogenic
16	3769173	C	A	C3769173A	CREBBP	NM_004380.3(CREBBP):c.3060+1G>T	noncoding	Pathogenic
16	3769176	C	A	C3769176A	CREBBP	NM_004380.3(CREBBP):c.3058G>T:p.Glu1020Ter	coding	Pathogenic
16	3769260	C	T	C3769260T	CREBBP	NM_004380.3(CREBBP):c.2974G>A:p.Val992Ile	coding	Benign
16	3769261	G	A	G3769261A	CREBBP	NM_004380.3(CREBBP):c.2973C>T:p.Asp991=	coding	Benign/Likely_benign
16	3769293	C	T	C3769293T	CREBBP	NM_004380.3(CREBBP):c.2941G>A:p.Ala981Thr	coding	Benign
16	3769323	T	A	T3769323A	CREBBP	NM_004380.3(CREBBP):c.2911A>T:p.Arg971Ter	coding	Pathogenic
16	3770659	G	A	G3770659A	CREBBP	NM_004380.3(CREBBP):c.2791C>T:p.Gln931Ter	coding	Pathogenic
16	3770666	C	T	C3770666T	CREBBP	NM_004380.3(CREBBP):c.2784G>A:p.Pro928=	coding	Benign
16	3770677	G	A	G3770677A	CREBBP	NM_004380.3(CREBBP):c.2773C>T:p.Gln925Ter	coding	Pathogenic
16	3770695	G	A	G3770695A	CREBBP	NM_004380.3(CREBBP):c.2755C>T:p.Gln919Ter	coding	Pathogenic
16	3770722	T	A	T3770722A	CREBBP	NM_004380.3(CREBBP):c.2728A>T:p.Thr910Ser	coding	Benign/Likely_benign
16	3770722	T	C	T3770722C	CREBBP	NM_004380.3(CREBBP):c.2728A>G:p.Thr910Ala	coding	Benign/Likely_benign
16	3770772	G	A	G3770772A	CREBBP	NM_004380.3(CREBBP):c.2678C>T:p.Ser893Leu	coding	Benign/Likely_benign
16	3770791	G	A	G3770791A	CREBBP	NM_004380.3(CREBBP):c.2659C>T:p.Gln887Ter	coding	Pathogenic
16	3770878	G	A	G3770878A	CREBBP	NM_004380.3(CREBBP):c.2572C>T:p.Pro858Ser	coding	Benign
16	3770915	G	T	G3770915T	CREBBP	NM_004380.3(CREBBP):c.2535C>A:p.Cys845Ter	coding	Pathogenic
16	3770992	A	T	A3770992T	CREBBP	NM_004380.3(CREBBP):c.2464-6T>A	noncoding	Pathogenic
16	3773912	G	A	G3773912A	CREBBP	NM_004380.3(CREBBP):c.2302C>T:p.Arg768Ter	coding	Pathogenic
16	3774694	C	A	C3774694A	CREBBP	NM_004380.3(CREBBP):c.2159-1G>T	coding	Pathogenic
16	3778053	G	A	G3778053A	CREBBP	NM_004380.3(CREBBP):c.2071C>T:p.Gln691Ter	coding	Pathogenic
16	3778171	A	G	A3778171G	CREBBP	NM_004380.3(CREBBP):c.1953T>C:p.Tyr651=	coding	Benign
16	3778695	C	T	C3778695T	CREBBP	NM_004380.3(CREBBP):c.1941+5G>A	noncoding	Pathogenic
16	3778698	A	G	A3778698G	CREBBP	NM_004380.3(CREBBP):c.1941+2T>C	noncoding	Pathogenic
16	3778699	C	A	C3778699A	CREBBP	NM_004380.3(CREBBP):c.1941+1G>T	noncoding	Pathogenic
16	3778699	C	T	C3778699T	CREBBP	NM_004380.3(CREBBP):c.1941+1G>A	noncoding	Pathogenic
16	3778818	C	T	C3778818T	CREBBP	NM_004380.3(CREBBP):c.1824-1G>A	coding	Pathogenic
16	3781186	T	A	T3781186A	CREBBP	NM_004380.3(CREBBP):c.1676+18A>T	noncoding	Benign
16	3781234	G	C	G3781234C	CREBBP	NM_004380.3(CREBBP):c.1646C>G:p.Ser549Ter	coding	Pathogenic
16	3782683	C	T	C3782683T	CREBBP	NM_004380.3(CREBBP):c.1573+1G>A	noncoding	Pathogenic
16	3782708	G	A	G3782708A	CREBBP	NM_004380.3(CREBBP):c.1549C>T:p.Gln517Ter	coding	Pathogenic
16	3782774	G	A	G3782774A	CREBBP	NM_004380.3(CREBBP):c.1483C>T:p.Gln495Ter	coding	Pathogenic
16	3782810	G	A	G3782810A	CREBBP	NM_004380.3(CREBBP):c.1447C>T:p.Arg483Ter	coding	Pathogenic
16	3782897	G	A	G3782897A	CREBBP	NM_004380.3(CREBBP):c.1360C>T:p.Gln454Ter	coding	Pathogenic
16	3792041	G	A	G3792041A	CREBBP	NM_004380.3(CREBBP):c.1270C>T:p.Arg424Ter	coding	Pathogenic
16	3792054	C	T	C3792054T	CREBBP	NM_004380.3(CREBBP):c.1257G>A:p.Trp419Ter	coding	Pathogenic
16	3792074	G	A	G3792074A	CREBBP	NM_004380.3(CREBBP):c.1237C>T:p.Arg413Ter	coding	Pathogenic
16	3793384	A	T	A3793384T	CREBBP	NM_004380.3(CREBBP):c.1216+2T>A	noncoding	Pathogenic
16	3793446	G	A	G3793446A	CREBBP	NM_004380.3(CREBBP):c.1156C>T:p.Arg386Ter	coding	Pathogenic
16	3793494	G	A	G3793494A	CREBBP	NM_004380.3(CREBBP):c.1108C>T:p.Arg370Ter	coding	Pathogenic
16	3793507	A	G	A3793507G	CREBBP	NM_004380.3(CREBBP):c.1095T>C:p.His365=	coding	Benign
16	3793533	G	A	G3793533A	CREBBP	NM_004380.3(CREBBP):c.1069C>T:p.Gln357Ter	coding	Pathogenic
16	3793539	G	A	G3793539A	CREBBP	NM_004380.3(CREBBP):c.1063C>T:p.Gln355Ter	coding	Pathogenic
16	3793605	C	A	C3793605A	CREBBP	NM_004380.3(CREBBP):c.997G>T:p.Gly333Ter	coding	Pathogenic
16	3810625	G	T	G3810625T	CREBBP	NM_004380.3(CREBBP):c.953C>A:p.Ser318Ter	coding	Pathogenic
16	3810639	A	G	A3810639G	CREBBP	NM_004380.3(CREBBP):c.939T>C:p.Asp313=	coding	Benign
16	3810699	C	T	C3810699T	CREBBP	NM_004380.3(CREBBP):c.879G>A:p.Val293=	coding	Benign/Likely_benign
16	3810745	T	G	T3810745G	CREBBP	NM_004380.3(CREBBP):c.833A>C:p.Gln278Pro	coding	Benign
16	3850335	C	T	C3850335T	CREBBP	NM_004380.3(CREBBP):c.760G>A:p.Ala254Thr	coding	Benign/Likely_benign
16	3850342	A	C	A3850342C	CREBBP	NM_004380.3(CREBBP):c.753T>G:p.Thr251=	coding	Benign
16	3850414	A	G	A3850414G	CREBBP	NM_004380.3(CREBBP):c.681T>C:p.Pro227=	coding	Benign/Likely_benign
16	3850482	G	A	G3850482A	CREBBP	NM_004380.3(CREBBP):c.613C>T:p.Gln205Ter	coding	Pathogenic
16	3850497	G	A	G3850497A	CREBBP	NM_004380.3(CREBBP):c.598C>T:p.Gln200Ter	coding	Pathogenic
16	3850587	G	A	G3850587A	CREBBP	NM_004380.3(CREBBP):c.508C>T:p.Gln170Ter	coding	Pathogenic
16	3850636	C	T	C3850636T	CREBBP	NM_004380.3(CREBBP):c.459G>A:p.Pro153=	coding	Benign
16	3850689	G	A	G3850689A	CREBBP	NM_004380.3(CREBBP):c.406C>T:p.Gln136Ter	coding	Pathogenic
16	3850719	C	A	C3850719A	CREBBP	NM_004380.3(CREBBP):c.376G>T:p.Gly126Ter	coding	Pathogenic
16	3850762	G	A	G3850762A	CREBBP	NM_004380.3(CREBBP):c.333C>T:p.Asn111=	coding	Benign/Likely_benign
16	3850779	G	A	G3850779A	CREBBP	NM_004380.3(CREBBP):c.316C>T:p.Gln106Ter	coding	Pathogenic
16	3850802	C	A	C3850802A	CREBBP	NM_004380.3(CREBBP):c.293G>T:p.Gly98Val	coding	Benign
16	3850809	G	A	G3850809A	CREBBP	NM_004380.3(CREBBP):c.286C>T:p.Gln96Ter	coding	Pathogenic
16	3850918	A	T	A3850918T	CREBBP	NM_004380.3(CREBBP):c.177T>A:p.Leu59=	coding	Benign
16	3851010	C	A	C3851010A	CREBBP	NM_004380.3(CREBBP):c.86-1G>T	coding	Pathogenic
16	3851011	T	G	T3851011G	CREBBP	NM_004380.3(CREBBP):c.86-2A>C	noncoding	Pathogenic
16	3879915	A	T	A3879915T	CREBBP	NM_004380.3(CREBBP):c.2T>A:p.Met1Lys	coding	Pathogenic
16	3966354	G	A	G3966354A	ADCY9	NM_001116.4(ADCY9):c.3483C>T:p.Phe1161=	coding	Benign
16	3966507	G	A	G3966507A	ADCY9	NM_001116.4(ADCY9):c.3330C>T:p.Ile1110=	coding	Benign
16	3966843	G	A	G3966843A	ADCY9	NM_001116.4(ADCY9):c.2994C>T:p.Arg998=	coding	Benign
16	3977535	G	A	G3977535A	ADCY9	NM_001116.4(ADCY9):c.2775C>T:p.Thr925=	coding	Benign
16	3977595	G	A	G3977595A	ADCY9	NM_001116.4(ADCY9):c.2715C>T:p.Ala905=	coding	Benign
16	3979163	G	A	G3979163A	ADCY9	NM_001116.4(ADCY9):c.2632C>T:p.Leu878=	coding	Benign
16	3993414	T	C	T3993414C	ADCY9	NM_001116.4(ADCY9):c.1981A>G:p.Ser661Gly	coding	Benign
16	4113778	G	T	G4113778T	ADCY9	NM_001116.4(ADCY9):c.1665C>A:p.Gly555=	coding	Benign
16	4114630	C	T	C4114630T	ADCY9	NM_001116.4(ADCY9):c.813G>A:p.Ser271=	coding	Benign
16	4114954	G	A	G4114954A	ADCY9	NM_001116.4(ADCY9):c.489C>T:p.Thr163=	coding	Benign
16	4115260	C	T	C4115260T	ADCY9	NM_001116.4(ADCY9):c.183G>A:p.Gly61=	coding	Benign
16	4115296	G	A	G4115296A	ADCY9	NM_001116.4(ADCY9):c.147C>T:p.Ser49=	coding	Benign
16	4192255	C	T	C4192255T	SRL	NM_001098814.2(SRL):c.1320G>A:p.Pro440=	coding	Benign
16	4195655	G	A	G4195655A	SRL	NM_001098814.2(SRL):c.508C>T:p.Leu170=	coding	Benign
16	4260462	C	T	C4260462T	TFAP4	NM_003223.3(TFAP4):c.659G>A:p.Arg220Gln	coding	Benign
16	4332270	G	A	G4332270A	GLIS2	NM_032575.2(GLIS2):c.-11G>A	noncoding	Benign
16	4332350	C	A	C4332350A	GLIS2	NM_032575.2(GLIS2):c.70C>A:p.Arg24=	coding	Benign/Likely_benign
16	4333397	G	T	G4333397T	GLIS2	NM_032575.2(GLIS2):c.223G>T:p.Ala75Ser	coding	Benign
16	4334870	G	A	G4334870A	GLIS2	NM_032575.2(GLIS2):c.415G>A:p.Gly139Arg	coding	Benign
16	4334932	G	A	G4334932A	GLIS2	NM_032575.3(GLIS2):c.477G>A:p.Ser159=	coding	Benign
16	4335060	T	C	T4335060C	GLIS2	NM_032575.2(GLIS2):c.523T>C:p.Cys175Arg	coding	Pathogenic
16	4335394	G	T	G4335394T	GLIS2	NM_032575.2(GLIS2):c.775+1G>T	coding	Pathogenic
16	4335413	C	T	C4335413T	GLIS2	NM_032575.2(GLIS2):c.775+20C>T	noncoding	Benign
16	4336798	C	T	C4336798T	GLIS2	NM_032575.3(GLIS2):c.849C>T:p.His283=	coding	Benign
16	4336813	T	C	T4336813C	GLIS2	NM_032575.2(GLIS2):c.864T>C:p.Tyr288=	coding	Benign
16	4336843	C	T	C4336843T	GLIS2	NM_032575.2(GLIS2):c.894C>T:p.Pro298=	coding	Benign
16	4336959	C	T	C4336959T	GLIS2	NM_032575.2(GLIS2):c.1010C>T:p.Pro337Leu	coding	Benign
16	4336960	G	A	G4336960A	GLIS2	NM_032575.2(GLIS2):c.1011G>A:p.Pro337=	coding	Benign
16	4337208	C	T	C4337208T	GLIS2	NM_032575.2(GLIS2):c.1259C>T:p.Pro420Leu	coding	Benign
16	4337260	A	C	A4337260C	GLIS2	NM_032575.2(GLIS2):c.1311A>C:p.Ala437=	coding	Benign
16	4337299	G	A	G4337299A	GLIS2	NM_032575.2(GLIS2):c.1350G>A:p.Ser450=	coding	Benign
16	4337413	G	A	G4337413A	GLIS2	NM_032575.2(GLIS2):c.1464G>A:p.Leu488=	coding	Benign
16	4337423	A	G	A4337423G	GLIS2	NM_032575.2(GLIS2):c.1474A>G:p.Thr492Ala	coding	Benign
16	4337425	G	A	G4337425A	GLIS2	NM_032575.2(GLIS2):c.1476G>A:p.Thr492=	coding	Benign/Likely_benign
16	4337697	G	A	G4337697A	GLIS2	NM_032575.2(GLIS2):c.*173G>A	noncoding	Benign
16	4337756	T	G	T4337756G	GLIS2	NM_032575.2(GLIS2):c.*232T>G	noncoding	Benign
16	4337802	C	T	C4337802T	GLIS2	NM_032575.2(GLIS2):c.*278C>T	noncoding	Benign
16	4338138	G	A	G4338138A	GLIS2	NM_032575.2(GLIS2):c.*614G>A	noncoding	Benign
16	4338654	G	A	G4338654A	GLIS2	NM_032575.2(GLIS2):c.*1130G>A	noncoding	Benign
16	4338700	C	T	C4338700T	GLIS2	NM_032575.2(GLIS2):c.*1176C>T	noncoding	Benign
16	4338857	C	G	C4338857G	GLIS2	NM_032575.2(GLIS2):c.*1333C>G	noncoding	Benign
16	4340910	G	A	G4340910A	PAM16	NM_016069.11(PAM16):c.291+10C>T	noncoding	Benign
16	4340913	C	A	C4340913A	PAM16	NM_016069.11(PAM16):c.291+7G>T	noncoding	Benign
16	4340985	T	C	T4340985C	PAM16	NM_016069.11(PAM16):c.226A>G:p.Asn76Asp	coding	Pathogenic
16	4341372	T	G	T4341372G	PAM16	NM_016069.11(PAM16):c.221A>C:p.Gln74Pro	coding	Pathogenic
16	4359512	G	A	G4359512A	CORO7	NM_024535.5(CORO7):c.2218C>T:p.Pro740Ser	coding	Benign
16	4381582	C	T	C4381582T	VASN	NM_138440.3(VASN):c.705C>T:p.Ile235=	coding	Benign
16	4407594	G	A	G4407594A	CORO7	NM_024535.5(CORO7):c.394C>T:p.Leu132=	coding	Benign
16	4507817	G	A	G4507817A	HMOX2	NM_002134.4(HMOX2):c.309G>A:p.Leu103=	coding	Benign
16	4575930	C	T	C4575930T	C16orf96	NM_001145011.1(C16orf96):c.1450C>T:p.Arg484Cys	coding	Benign
16	4650417	C	A	C4650417A	MGRN1	NM_015246.4(MGRN1):c.141C>A:p.Pro47=	coding	Benign
16	4698032	C	G	C4698032G	ANKS3	NM_133450.4(ANKS3):c.1755G>C:p.Val585=	coding	Benign
16	4701123	A	G	A4701123G	ANKS3	NM_133450.4(ANKS3):c.1131T>C:p.His377=	coding	Benign
16	4702127	C	T	C4702127T	ANKS3	NM_133450.4(ANKS3):c.984G>A:p.Glu328=	coding	Benign
16	4730076	C	T	C4730076T	ANKS3	NM_133450.4(ANKS3):c.74G>A:p.Gly25Glu	coding	Benign
16	4730108	C	G	C4730108G	ANKS3	NM_133450.4(ANKS3):c.42G>C:p.Leu14=	coding	Benign
16	4797168	G	A	G4797168A	ROGDI	NM_024589.2(ROGDI):c.*292C>T	noncoding	Benign
16	4797190	A	G	A4797190G	ROGDI	NM_024589.2(ROGDI):c.*270T>C	noncoding	Benign
16	4797316	C	T	C4797316T	ROGDI	NM_024589.2(ROGDI):c.*144G>A	noncoding	Benign
16	4797511	G	A	G4797511A	ROGDI	NM_024589.2(ROGDI):c.823-10C>T	noncoding	Benign/Likely_benign
16	4797823	C	T	C4797823T	ROGDI	NM_024589.2(ROGDI):c.713G>A:p.Arg238His	coding	Benign/Likely_benign
16	4797840	G	A	G4797840A	ROGDI	NM_024589.2(ROGDI):c.696C>T:p.Phe232=	coding	Benign
16	4797848	C	A	C4797848A	ROGDI	NM_024589.2(ROGDI):c.696-8G>T	noncoding	Benign/Likely_benign
16	4797955	A	G	A4797955G	ROGDI	NM_024589.2(ROGDI):c.678T>C:p.His226=	coding	Benign
16	4797992	G	A	G4797992A	ROGDI	NM_024589.2(ROGDI):c.646-5C>T	noncoding	Benign
16	4798186	T	A	T4798186A	ROGDI	NM_024589.2(ROGDI):c.532-2A>T	noncoding	Pathogenic
16	4798564	C	G	C4798564G	ROGDI	NM_024589.2(ROGDI):c.531+5G>C	noncoding	Pathogenic
16	4798578	G	A	G4798578A	ROGDI	NM_024589.2(ROGDI):c.522C>T:p.Ser174=	coding	Benign/Likely_benign
16	4798611	G	A	G4798611A	ROGDI	NM_024589.2(ROGDI):c.489C>T:p.Pro163=	coding	Benign
16	4798631	G	A	G4798631A	ROGDI	NM_024589.2(ROGDI):c.469C>T:p.Arg157Ter	coding	Pathogenic
16	4798682	G	A	G4798682A	ROGDI	NM_024589.2(ROGDI):c.433-15C>T	noncoding	Benign
16	4799701	G	A	G4799701A	ROGDI	NM_024589.2(ROGDI):c.417C>T:p.Gly139=	coding	Benign
16	4799704	C	T	C4799704T	ROGDI	NM_024589.2(ROGDI):c.414G>A:p.Thr138=	coding	Benign
16	4799725	G	C	G4799725C	ROGDI	NM_024589.2(ROGDI):c.393C>G:p.Asp131Glu	coding	Benign
16	4799778	G	A	G4799778A	ROGDI	NM_024589.2(ROGDI):c.340C>T:p.Gln114Ter	coding	Pathogenic
16	4800500	G	A	G4800500A	ROGDI	NM_024589.2(ROGDI):c.334C>T:p.Gln112Ter	coding	Pathogenic
16	4800548	G	A	G4800548A	ROGDI	NM_024589.2(ROGDI):c.286C>T:p.Gln96Ter	coding	Pathogenic
16	4802372	G	A	G4802372A	ROGDI	NM_024589.2(ROGDI):c.117+10C>T	noncoding	Benign
16	4802372	G	C	G4802372C	ROGDI	NM_024589.2(ROGDI):c.117+10C>G	noncoding	Benign/Likely_benign
16	4802381	C	T	C4802381T	ROGDI	NM_024589.2(ROGDI):c.117+1G>A	noncoding	Pathogenic
16	4802891	G	C	G4802891C	ROGDI	NM_024589.2(ROGDI):c.-320C>G	noncoding	Benign
16	4860860	C	G	C4860860G	UBN1	NM_001079514.3(UBN1):c.868C>G:p.Leu290Val	coding	Benign
16	4870840	G	A	G4870840A	UBN1	NM_001079514.3(UBN1):c.1431-4G>A	noncoding	Benign
16	4874279	G	C	G4874279C	UBN1	NM_001079514.3(UBN1):c.1869G>C:p.Leu623Phe	coding	Benign
16	4874333	C	T	C4874333T	UBN1	NM_001079514.3(UBN1):c.1923C>T:p.Leu641=	coding	Benign
16	4874426	G	A	G4874426A	UBN1	NM_001079514.3(UBN1):c.2016G>A:p.Ser672=	coding	Benign
16	4874904	G	C	G4874904C	UBN1	NM_001079514.3(UBN1):c.2494G>C:p.Ala832Pro	coding	Benign
16	4875083	A	C	A4875083C	UBN1	NM_001079514.3(UBN1):c.2673A>C:p.Ser891=	coding	Benign
16	4877083	C	T	C4877083T	UBN1	NM_001079514.3(UBN1):c.3237C>T:p.Pro1079=	coding	Benign
16	4877461	G	A	G4877461A	UBN1	NM_001079514.3(UBN1):c.3342G>A:p.Pro1114=	coding	Benign
16	4884272	C	T	C4884272T	PPL	NM_002705.5(PPL):c.4383G>A:p.Leu1461=	coding	Benign
16	4884465	G	T	G4884465T	PPL	NM_002705.5(PPL):c.4190C>A:p.Thr1397Asn	coding	Benign
16	4884551	C	T	C4884551T	PPL	NM_002705.5(PPL):c.4104G>A:p.Ala1368=	coding	Benign
16	4885241	C	T	C4885241T	PPL	NM_002705.5(PPL):c.3414G>A:p.Glu1138=	coding	Benign
16	4885256	G	A	G4885256A	PPL	NM_002705.5(PPL):c.3399C>T:p.Leu1133=	coding	Benign
16	4885277	G	T	G4885277T	PPL	NM_002705.5(PPL):c.3378C>A:p.Thr1126=	coding	Benign
16	4885694	G	A	G4885694A	PPL	NM_002705.5(PPL):c.2961C>T:p.Asp987=	coding	Benign
16	4885817	C	T	C4885817T	PPL	NM_002705.5(PPL):c.2838G>A:p.Leu946=	coding	Benign
16	4885849	C	G	C4885849G	PPL	NM_002705.5(PPL):c.2806G>C:p.Glu936Gln	coding	Benign
16	4890179	C	G	C4890179G	PPL	NM_002705.5(PPL):c.2313+5G>C	noncoding	Benign
16	4890209	A	G	A4890209G	PPL	NM_002705.5(PPL):c.2288T>C:p.Met763Thr	coding	Benign
16	4890836	G	C	G4890836C	PPL	NM_002705.5(PPL):c.2054C>G:p.Thr685Arg	coding	Benign
16	4891886	G	A	G4891886A	PPL	NM_002705.5(PPL):c.1893C>T:p.His631=	coding	Benign
16	4891888	G	A	G4891888A	PPL	NM_002705.5(PPL):c.1891C>T:p.His631Tyr	coding	Benign
16	4892169	C	T	C4892169T	PPL	NM_002705.5(PPL):c.1695G>A:p.Arg565=	coding	Benign
16	4893249	A	G	A4893249G	PPL	NM_002705.5(PPL):c.1614T>C:p.Ala538=	coding	Benign
16	4893304	C	T	C4893304T	PPL	NM_002705.5(PPL):c.1559G>A:p.Arg520Gln	coding	Benign
16	4895657	G	T	G4895657T	PPL	NM_002705.5(PPL):c.1032C>A:p.Asn344Lys	coding	Benign
16	4899064	G	A	G4899064A	PPL	NM_002705.5(PPL):c.825C>T:p.Ser275=	coding	Benign
16	4899239	C	T	C4899239T	PPL	NM_002705.5(PPL):c.752G>A:p.Arg251His	coding	Benign
16	4902486	T	G	T4902486G	PPL	NM_002705.5(PPL):c.358A>C:p.Lys120Gln	coding	Benign
16	4902510	C	T	C4902510T	PPL	NM_002705.5(PPL):c.334G>A:p.Glu112Lys	coding	Benign
16	4910954	G	A	G4910954A	PPL	NM_002705.5(PPL):c.63-5C>T	noncoding	Benign
16	5025541	G	A	G5025541A	NAGPA	NM_016256.4(NAGPA):c.1485C>T:p.Asn495=	coding	Benign
16	5025632	G	A	G5025632A	NAGPA	NM_016256.4(NAGPA):c.1394C>T:p.Thr465Ile	coding	Benign
16	5027351	G	C	G5027351C	NAGPA	NM_016256.4(NAGPA):c.1203C>G:p.Gly401=	coding	Benign
16	5027984	C	T	C5027984T	NAGPA	NM_016256.4(NAGPA):c.1122G>A:p.Thr374=	coding	Benign
16	5028840	T	C	T5028840C	NAGPA	NM_016256.4(NAGPA):c.920+40A>G	noncoding	Benign
16	5030522	C	T	C5030522T	NAGPA	NM_016256.4(NAGPA):c.683-29G>A	noncoding	Benign
16	5033434	C	A	C5033434A	NAGPA	NM_016256.4(NAGPA):c.381G>T:p.Ala127=	coding	Benign
16	5033482	T	C	T5033482C	NAGPA	NM_016256.4(NAGPA):c.333A>G:p.Gly111=	coding	Benign
16	5033832	G	A	G5033832A	NAGPA	NM_016256.4(NAGPA):c.83C>T:p.Ser28Leu	coding	Benign
16	5071864	C	A	C5071864A	ALG1	NM_019109.4(ALG1):c.15C>A:p.Cys5Ter	coding	Pathogenic
16	5071870	C	T	C5071870T	ALG1	NM_019109.5(ALG1):c.21C>T:p.Val7=	coding	Benign
16	5071871	C	T	C5071871T	ALG1	NM_019109.5(ALG1):c.22C>T:p.Leu8=	coding	Benign
16	5071909	G	A	G5071909A	ALG1	NM_019109.4(ALG1):c.60G>A:p.Leu20=	coding	Benign/Likely_benign
16	5073170	C	T	C5073170T	ALG1	NM_001330504.1(ALG1):c.-30C>T	coding	Pathogenic/Likely_pathogenic
16	5073200	A	C	A5073200C	ALG1	NM_001330504.1(ALG1):c.1A>C:p.Met1Leu	coding	Benign
16	5073269	C	A	C5073269A	ALG1	NM_001330504.1(ALG1):c.57+13C>A	noncoding	Benign/Likely_benign
16	5073269	C	T	C5073269T	ALG1	NM_001330504.1(ALG1):c.57+13C>T	noncoding	Benign
16	5075447	C	G	C5075447G	ALG1	NM_019109.4(ALG1):c.450C>G:p.Ser150Arg	coding	Pathogenic
16	5077459	T	G	T5077459G	ALG1	NM_001330504.1(ALG1):c.221T>G:p.Phe74Cys	coding	Benign/Likely_benign
16	5078000	C	T	C5078000T	ALG1	NM_001330504.1(ALG1):c.390C>T:p.His130=	coding	Benign
16	5078789	C	T	C5078789T	ALG1	NM_001330504.1(ALG1):c.440C>T:p.Ser147Leu	coding	Pathogenic/Likely_pathogenic
16	5078816	G	A	G5078816A	ALG1	NM_001330504.1(ALG1):c.467G>A:p.Ser156Asn	coding	Benign/Likely_benign
16	5078856	G	C	G5078856C	ALG1	NM_001330504.1(ALG1):c.507G>C:p.Leu169=	coding	Benign
16	5081009	A	C	A5081009C	ALG1	NM_019109.4(ALG1):c.1025A>C:p.Gln342Pro	coding	Pathogenic
16	5082565	C	T	C5082565T	ALG1	NM_001330504.1(ALG1):c.746C>T:p.Ala249Val	coding	Pathogenic/Likely_pathogenic
16	5082566	G	A	G5082566A	ALG1	NM_001330504.1(ALG1):c.747G>A:p.Ala249=	coding	Benign/Likely_benign
16	5082578	C	G	C5082578G	ALG1	NM_001330504.1(ALG1):c.759C>G:p.Val253=	coding	Benign/Likely_benign
16	5082615	A	G	A5082615G	ALG1	NM_019109.4(ALG1):c.1129A>G:p.Met377Val	coding	Pathogenic
16	5082631	T	C	T5082631C	ALG1	NM_019109.5(ALG1):c.1145T>C:p.Met382Thr	coding	Pathogenic
16	5082635	C	T	C5082635T	ALG1	NM_001330504.1(ALG1):c.816C>T:p.Phe272=	coding	Benign
16	5082665	C	G	C5082665G	ALG1	NM_019109.5(ALG1):c.1179C>G:p.Asn393Lys	coding	Benign
16	5082674	G	A	G5082674A	ALG1	NM_001330504.1(ALG1):c.854+1G>A	coding	Pathogenic
16	5082676	A	G	A5082676G	ALG1	NM_001330504.1(ALG1):c.854+3A>G	noncoding	Pathogenic/Likely_pathogenic
16	5083680	A	G	A5083680G	ALG1	NM_019109.4(ALG1):c.1188-2A>G	noncoding	Pathogenic
16	5083682	T	A	T5083682A	ALG1	NM_019109.4(ALG1):c.1188T>A:p.Cys396Ter	coding	Pathogenic
16	5083716	C	T	C5083716T	ALG1	NM_001330504.1(ALG1):c.889C>T:p.Leu297=	coding	Benign/Likely_benign
16	5084558	G	A	G5084558A	EEF2KMT	NM_201400.4(EEF2KMT):c.*1074C>T	coding	Benign
16	5084773	T	A	T5084773A	ALG1	NM_201400.4(EEF2KMT):c.*859A>T	coding	Benign
16	6483548	C	A	C6483548A	RBFOX1	NM_018723.4(RBFOX1):c.-64+166491C>A	noncoding	Benign
16	7333058	G	A	G7333058A	RBFOX1	NM_018723.4(RBFOX1):c.28-185089G>A	coding	Benign
16	7518215	C	G	C7518215G	RBFOX1	NM_018723.4(RBFOX1):c.96C>G:p.Pro32=	coding	Benign/Likely_benign
16	7518245	G	A	G7518245A	RBFOX1	NM_018723.4(RBFOX1):c.126G>A:p.Thr42=	coding	Benign
16	7518256	C	A	C7518256A	RBFOX1	NM_018723.4(RBFOX1):c.137C>A:p.Pro46His	coding	Benign
16	7518263	C	T	C7518263T	RBFOX1	NM_018723.4(RBFOX1):c.144C>T:p.Pro48=	coding	Benign
16	7518383	C	T	C7518383T	RBFOX1	NM_018723.4(RBFOX1):c.264C>T:p.Thr88=	coding	Benign
16	7518399	C	G	C7518399G	RBFOX1	NM_018723.4(RBFOX1):c.270+10C>G	noncoding	Benign
16	7579788	C	T	C7579788T	RBFOX1	NM_018723.4(RBFOX1):c.282C>T:p.Asp94=	coding	Benign
16	7579839	A	G	A7579839G	RBFOX1	NM_018723.4(RBFOX1):c.333A>G:p.Glu111=	coding	Benign
16	7579860	G	A	G7579860A	RBFOX1	NM_018723.4(RBFOX1):c.354G>A:p.Arg118=	coding	Benign
16	7595618	G	A	G7595618A	RBFOX1	NM_018723.4(RBFOX1):c.538G>A:p.Val180Met	coding	Pathogenic
16	7630634	G	A	G7630634A	RBFOX1	NM_018723.4(RBFOX1):c.708G>A:p.Glu236=	coding	Benign
16	7653810	C	T	C7653810T	RBFOX1	NM_018723.4(RBFOX1):c.758-5C>T	noncoding	Benign
16	7653811	G	T	G7653811T	RBFOX1	NM_018723.4(RBFOX1):c.758-4G>T	noncoding	Benign
16	7653936	G	A	G7653936A	RBFOX1	NM_018723.4(RBFOX1):c.879G>A:p.Pro293=	coding	Benign
16	7653936	G	C	G7653936C	RBFOX1	NM_018723.4(RBFOX1):c.879G>C:p.Pro293=	coding	Benign
16	7709092	C	T	C7709092T	RBFOX1	NM_018723.4(RBFOX1):c.1032C>T:p.His344=	coding	Benign
16	7709134	G	A	G7709134A	RBFOX1	NM_018723.4(RBFOX1):c.1071+3G>A	noncoding	Benign
16	8735769	G	A	G8735769A	ABAT	NM_020686.6(ABAT):c.30G>A:p.Leu10=	coding	Benign/Likely_benign
16	8746059	G	A	G8746059A	ABAT	NM_020686.6(ABAT):c.129G>A:p.Gly43=	coding	Benign
16	8746097	A	G	A8746097G	ABAT	NM_020686.6(ABAT):c.167A>G:p.Gln56Arg	coding	Benign
16	8746099	G	A	G8746099A	ABAT	NM_020686.6(ABAT):c.168+1G>A	coding	Pathogenic
16	8746110	A	G	A8746110G	ABAT	NM_020686.6(ABAT):c.168+12A>G	noncoding	Benign
16	8748103	T	C	T8748103C	ABAT	NM_020686.6(ABAT):c.169-5T>C	noncoding	Benign
16	8750490	C	T	C8750490T	ABAT	NM_020686.6(ABAT):c.267C>T:p.Asp89=	coding	Benign/Likely_benign
16	8750498	G	A	G8750498A	ABAT	NM_020686.6(ABAT):c.275G>A:p.Arg92Gln	coding	Pathogenic
16	8750532	C	T	C8750532T	ABAT	NM_020686.6(ABAT):c.309C>T:p.Val103=	coding	Benign
16	8757816	G	A	G8757816A	ABAT	NM_020686.6(ABAT):c.366+10G>A	noncoding	Benign
16	8757817	G	T	G8757817T	ABAT	NM_020686.6(ABAT):c.366+11G>T	noncoding	Benign
16	8764723	T	A	T8764723A	ABAT	NM_020686.6(ABAT):c.448-15T>A	noncoding	Benign
16	8764744	C	T	C8764744T	ABAT	NM_020686.6(ABAT):c.454C>T:p.Pro152Ser	coding	Pathogenic
16	8766273	G	A	G8766273A	ABAT	NM_020686.6(ABAT):c.603+3G>A	noncoding	Benign/Likely_benign
16	8768220	C	T	C8768220T	ABAT	NM_020686.6(ABAT):c.631C>T:p.Leu211Phe	coding	Pathogenic
16	8768227	T	G	T8768227G	ABAT	NM_020686.6(ABAT):c.638T>G:p.Phe213Cys	coding	Pathogenic
16	8768248	G	A	G8768248A	ABAT	NM_020686.6(ABAT):c.659G>A:p.Arg220Lys	coding	Pathogenic
16	8768841	G	A	G8768841A	ABAT	NM_020686.6(ABAT):c.684G>A:p.Thr228=	coding	Benign
16	8768980	C	A	C8768980A	ABAT	NM_020686.6(ABAT):c.816+7C>A	noncoding	Benign/Likely_benign
16	8772774	A	G	A8772774G	ABAT	NM_020686.6(ABAT):c.817-6A>G	noncoding	Benign
16	8772778	A	G	A8772778G	ABAT	NM_020686.6(ABAT):c.817-2A>G	noncoding	Pathogenic
16	8774919	C	A	C8774919A	ABAT	NM_020686.6(ABAT):c.984C>A:p.Val328=	coding	Benign
16	8776368	C	T	C8776368T	ABAT	NM_020686.6(ABAT):c.1147C>T:p.Leu383=	coding	Benign
16	8776494	A	C	A8776494C	ABAT	NM_020686.6(ABAT):c.1269+4A>C	noncoding	Benign
16	8779475	A	G	A8779475G	ABAT	NM_020686.6(ABAT):c.1270-4A>G	noncoding	Benign
16	8779599	T	C	T8779599C	ABAT	NM_020686.6(ABAT):c.1381+9T>C	noncoding	Benign
16	8781320	G	C	G8781320C	ABAT	NM_020686.6(ABAT):c.1393G>C:p.Gly465Arg	coding	Pathogenic
16	8781360	T	C	T8781360C	ABAT	NM_020686.6(ABAT):c.1433T>C:p.Leu478Pro	coding	Pathogenic
16	8781379	C	T	C8781379T	ABAT	NM_020686.6(ABAT):c.1452C>T:p.His484=	coding	Benign
16	8781387	T	C	T8781387C	ABAT	NM_020686.6(ABAT):c.1460T>C:p.Leu487Pro	coding	Pathogenic
16	8781461	C	T	C8781461T	ABAT	NM_020686.6(ABAT):c.*31C>T	noncoding	Benign
16	8781462	G	A	G8781462A	ABAT	NM_020686.6(ABAT):c.*32G>A	noncoding	Benign
16	8781529	G	C	G8781529C	ABAT	NM_020686.6(ABAT):c.*99G>C	noncoding	Benign
16	8781595	A	T	A8781595T	ABAT	NM_020686.6(ABAT):c.*165A>T	noncoding	Benign
16	8781634	A	G	A8781634G	ABAT	NM_020686.6(ABAT):c.*204A>G	noncoding	Benign
16	8781672	G	T	G8781672T	ABAT	NM_020686.6(ABAT):c.*242G>T	noncoding	Benign
16	8781674	C	A	C8781674A	ABAT	NM_020686.6(ABAT):c.*244C>A	noncoding	Benign
16	8781688	G	C	G8781688C	ABAT	NM_020686.6(ABAT):c.*258G>C	noncoding	Benign
16	8781728	C	T	C8781728T	ABAT	NM_020686.6(ABAT):c.*298C>T	noncoding	Benign
16	8781748	T	C	T8781748C	ABAT	NM_020686.6(ABAT):c.*318T>C	noncoding	Benign
16	8781906	T	C	T8781906C	ABAT	NM_020686.6(ABAT):c.*476T>C	noncoding	Benign
16	8781942	G	A	G8781942A	ABAT	NM_020686.6(ABAT):c.*512G>A	noncoding	Benign
16	8782001	A	C	A8782001C	ABAT	NM_020686.6(ABAT):c.*571A>C	noncoding	Benign
16	8782004	A	G	A8782004G	ABAT	NM_020686.6(ABAT):c.*574A>G	noncoding	Benign
16	8782345	C	G	C8782345G	ABAT	NM_020686.6(ABAT):c.*915C>G	noncoding	Benign
16	8782420	G	C	G8782420C	ABAT	NM_020686.6(ABAT):c.*990G>C	noncoding	Benign
16	8782561	G	A	G8782561A	ABAT	NM_020686.6(ABAT):c.*1131G>A	noncoding	Benign
16	8782563	G	A	G8782563A	ABAT	NM_020686.6(ABAT):c.*1133G>A	noncoding	Benign
16	8782640	T	C	T8782640C	ABAT	NM_020686.6(ABAT):c.*1210T>C	noncoding	Benign
16	8782763	A	G	A8782763G	ABAT	NM_020686.6(ABAT):c.*1333A>G	noncoding	Benign
16	8782835	C	T	C8782835T	ABAT	NM_020686.6(ABAT):c.*1405C>T	noncoding	Benign
16	8782931	A	G	A8782931G	ABAT	NM_020686.6(ABAT):c.*1501A>G	noncoding	Benign
16	8782988	G	A	G8782988A	ABAT	NM_020686.6(ABAT):c.*1558G>A	noncoding	Benign
16	8783005	A	G	A8783005G	ABAT	NM_020686.6(ABAT):c.*1575A>G	noncoding	Benign
16	8783023	T	A	T8783023A	ABAT	NM_020686.6(ABAT):c.*1593T>A	noncoding	Benign
16	8783249	G	A	G8783249A	ABAT	NM_020686.6(ABAT):c.*1819G>A	noncoding	Benign
16	8783363	T	C	T8783363C	ABAT	NM_020686.6(ABAT):c.*1933T>C	noncoding	Benign
16	8783544	G	A	G8783544A	ABAT	NM_020686.6(ABAT):c.*2114G>A	noncoding	Benign
16	8783734	T	A	T8783734A	ABAT	NM_020686.6(ABAT):c.*2304T>A	noncoding	Benign
16	8783975	C	T	C8783975T	ABAT	NM_020686.6(ABAT):c.*2545C>T	noncoding	Benign
16	8783997	C	G	C8783997G	ABAT	NM_020686.6(ABAT):c.*2567C>G	noncoding	Benign
16	8784174	G	C	G8784174C	ABAT	NM_020686.6(ABAT):c.*2744G>C	noncoding	Benign
16	8784416	T	C	T8784416C	ABAT	NM_020686.6(ABAT):c.*2986T>C	noncoding	Benign
16	8797614	T	C	T8797614C	TMEM186	NM_015421.4(TMEM186):c.1A>G:p.Met1Val	coding	Benign
16	8797716	G	T	G8797716T	PMM2	NM_000303.3(PMM2):c.-167G>T	noncoding	Pathogenic
16	8797908	G	A	G8797908A	PMM2	NM_000303.3(PMM2):c.26G>A:p.Cys9Tyr	coding	Pathogenic/Likely_pathogenic
16	8797949	G	T	G8797949T	PMM2	NM_000303.3(PMM2):c.66+1G>T	coding	Pathogenic/Likely_pathogenic
16	8801827	T	G	T8801827G	PMM2	NM_000303.3(PMM2):c.95T>G:p.Leu32Arg	coding	Pathogenic
16	8801829	C	T	C8801829T	PMM2	NM_000303.3(PMM2):c.97C>T:p.Gln33Ter	coding	Pathogenic
16	8801836	T	A	T8801836A	PMM2	NM_000303.3(PMM2):c.104T>A:p.Leu35Ter	coding	Pathogenic/Likely_pathogenic
16	8801841	C	T	C8801841T	PMM2	NM_000303.3(PMM2):c.109C>T:p.Gln37Ter	coding	Pathogenic/Likely_pathogenic
16	8801842	A	T	A8801842T	PMM2	NM_000303.3(PMM2):c.110A>T:p.Gln37Leu	coding	Benign/Likely_benign
16	8801863	T	C	T8801863C	PMM2	NM_000303.3(PMM2):c.131T>C:p.Val44Ala	coding	Pathogenic/Likely_pathogenic
16	8801889	C	T	C8801889T	PMM2	NM_000303.3(PMM2):c.157C>T:p.Gln53Ter	coding	Pathogenic
16	8804781	G	T	G8804781T	PMM2	NM_000303.3(PMM2):c.193G>T:p.Asp65Tyr	coding	Pathogenic
16	8804844	G	A	G8804844A	PMM2	NM_000303.3(PMM2):c.255+1G>A	coding	Pathogenic/Likely_pathogenic
16	8804845	T	C	T8804845C	PMM2	NM_000303.3(PMM2):c.255+2T>C	noncoding	Pathogenic
16	8806314	A	G	A8806314G	PMM2	NM_000303.3(PMM2):c.256-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	8806315	G	C	G8806315C	PMM2	NM_000303.3(PMM2):c.256-1G>C	noncoding	Pathogenic
16	8806370	C	G	C8806370G	PMM2	NM_000303.3(PMM2):c.310C>G:p.Leu104Val	coding	Pathogenic
16	8806383	C	T	C8806383T	PMM2	NM_000303.3(PMM2):c.323C>T:p.Ala108Val	coding	Pathogenic/Likely_pathogenic
16	8806384	G	A	G8806384A	PMM2	NM_000303.3(PMM2):c.324G>A:p.Ala108=	coding	Benign
16	8806398	C	T	C8806398T	PMM2	NM_000303.3(PMM2):c.338C>T:p.Pro113Leu	coding	Pathogenic
16	8806447	G	A	G8806447A	PMM2	NM_000303.3(PMM2):c.347+40G>A	noncoding	Benign
16	8811080	G	C	G8811080C	PMM2	NM_000303.3(PMM2):c.349G>C:p.Gly117Arg	coding	Pathogenic
16	8811086	T	C	T8811086C	PMM2	NM_000303.3(PMM2):c.355T>C:p.Phe119Leu	coding	Pathogenic
16	8811088	C	A	C8811088A	PMM2	NM_000303.3(PMM2):c.357C>A:p.Phe119Leu	coding	Pathogenic
16	8811097	C	T	C8811097T	PMM2	NM_000303.3(PMM2):c.366C>T:p.Phe122=	coding	Benign/Likely_benign
16	8811098	C	T	C8811098T	PMM2	NM_000303.3(PMM2):c.367C>T:p.Arg123Ter	coding	Pathogenic
16	8811116	G	A	G8811116A	PMM2	NM_000303.3(PMM2):c.385G>A:p.Val129Met	coding	Pathogenic/Likely_pathogenic
16	8811125	A	T	A8811125T	PMM2	NM_000303.3(PMM2):c.394A>T:p.Ile132Phe	coding	Pathogenic
16	8811126	T	C	T8811126C	PMM2	NM_000303.3(PMM2):c.395T>C:p.Ile132Thr	coding	Pathogenic/Likely_pathogenic
16	8811146	G	A	G8811146A	PMM2	NM_000303.3(PMM2):c.415G>A:p.Glu139Lys	coding	Pathogenic/Likely_pathogenic
16	8811153	G	A	G8811153A	PMM2	NM_000303.3(PMM2):c.422G>A:p.Arg141His	coding	Pathogenic
16	8811161	T	C	T8811161C	PMM2	NM_000303.3(PMM2):c.430T>C:p.Phe144Leu	coding	Pathogenic/Likely_pathogenic
16	8811173	G	A	G8811173A	PMM2	NM_000303.3(PMM2):c.442G>A:p.Asp148Asn	coding	Pathogenic/Likely_pathogenic
16	8811197	T	C	T8811197C	PMM2	NM_000303.3(PMM2):c.447+19T>C	noncoding	Benign
16	8811648	T	C	T8811648C	PMM2	NM_000303.3(PMM2):c.458T>C:p.Ile153Thr	coding	Pathogenic/Likely_pathogenic
16	8811653	C	T	C8811653T	PMM2	NM_000303.3(PMM2):c.463C>T:p.Gln155Ter	coding	Pathogenic
16	8811660	T	C	T8811660C	PMM2	NM_000303.3(PMM2):c.470T>C:p.Phe157Ser	coding	Pathogenic/Likely_pathogenic
16	8811674	C	T	C8811674T	PMM2	NM_000303.3(PMM2):c.484C>T:p.Arg162Trp	coding	Pathogenic/Likely_pathogenic
16	8813015	T	C	T8813015C	PMM2	NM_000303.3(PMM2):c.548T>C:p.Phe183Ser	coding	Pathogenic
16	8813027	G	A	G8813027A	PMM2	NM_000303.3(PMM2):c.560G>A:p.Trp187Ter	coding	Pathogenic/Likely_pathogenic
16	8813028	G	A	G8813028A	PMM2	NM_000303.3(PMM2):c.561G>A:p.Trp187Ter	coding	Pathogenic
16	8813030	A	G	A8813030G	PMM2	NM_000303.3(PMM2):c.563A>G:p.Asp188Gly	coding	Pathogenic/Likely_pathogenic
16	8813047	C	T	C8813047T	PMM2	NM_000303.3(PMM2):c.580C>T:p.Arg194Ter	coding	Pathogenic/Likely_pathogenic
16	8813057	A	C	A8813057C	PMM2	NM_000303.3(PMM2):c.590A>C:p.Glu197Ala	coding	Benign/Likely_benign
16	8813087	T	C	T8813087C	PMM2	NM_000303.3(PMM2):c.620T>C:p.Phe207Ser	coding	Pathogenic/Likely_pathogenic
16	8813090	G	C	G8813090C	PMM2	NM_000303.3(PMM2):c.623G>C:p.Gly208Ala	coding	Pathogenic/Likely_pathogenic
16	8847715	T	G	T8847715G	PMM2	NM_000303.3(PMM2):c.640-9T>G	noncoding	Pathogenic/Likely_pathogenic
16	8847731	A	T	A8847731T	PMM2	NM_000303.3(PMM2):c.647A>T:p.Asn216Ile	coding	Pathogenic/Likely_pathogenic
16	8847737	A	T	A8847737T	PMM2	NM_000303.3(PMM2):c.653A>T:p.His218Leu	coding	Pathogenic
16	8847753	C	G	C8847753G	PMM2	NM_000303.3(PMM2):c.669C>G:p.Asp223Glu	coding	Pathogenic
16	8847761	C	G	C8847761G	PMM2	NM_000303.3(PMM2):c.677C>G:p.Thr226Ser	coding	Pathogenic
16	8847766	G	T	G8847766T	PMM2	NM_000303.3(PMM2):c.682G>T:p.Gly228Cys	coding	Pathogenic/Likely_pathogenic
16	8847775	G	A	G8847775A	PMM2	NM_000303.3(PMM2):c.691G>A:p.Val231Met	coding	Pathogenic
16	8847794	C	G	C8847794G	PMM2	NM_000303.3(PMM2):c.710C>G:p.Thr237Arg	coding	Pathogenic/Likely_pathogenic
16	8847794	C	T	C8847794T	PMM2	NM_000303.3(PMM2):c.710C>T:p.Thr237Met	coding	Pathogenic/Likely_pathogenic
16	8847806	G	C	G8847806C	PMM2	NM_000303.3(PMM2):c.722G>C:p.Cys241Ser	coding	Pathogenic
16	8847921	G	C	G8847921C	PMM2	NM_000303.3(PMM2):c.*96G>C	noncoding	Benign
16	8847961	A	C	A8847961C	PMM2	NM_000303.3(PMM2):c.*136A>C	noncoding	Benign
16	8847991	C	G	C8847991G	PMM2	NM_000303.3(PMM2):c.*166C>G	noncoding	Benign
16	8848000	G	A	G8848000A	PMM2	NM_000303.3(PMM2):c.*175G>A	noncoding	Benign
16	8848077	C	A	C8848077A	PMM2	NM_000303.3(PMM2):c.*252C>A	noncoding	Benign
16	8848385	A	G	A8848385G	PMM2	NM_000303.3(PMM2):c.*560A>G	noncoding	Benign
16	8848616	G	C	G8848616C	PMM2	NM_000303.3(PMM2):c.*791G>C	noncoding	Benign
16	8848819	A	T	A8848819T	PMM2	NM_000303.3(PMM2):c.*994A>T	noncoding	Benign
16	8848822	A	G	A8848822G	PMM2	NM_000303.3(PMM2):c.*997A>G	noncoding	Benign
16	8848857	C	A	C8848857A	PMM2	NM_000303.3(PMM2):c.*1032C>A	noncoding	Benign
16	8849084	C	G	C8849084G	PMM2	NM_000303.3(PMM2):c.*1259C>G	noncoding	Benign
16	8894549	C	A	C8894549A	USP7	NM_003470.3(USP7):c.3202+1G>T	noncoding	Pathogenic
16	8895654	C	T	C8895654T	USP7	NM_003470.3(USP7):c.2907G>A:p.Thr969=	coding	Benign
16	8900522	G	A	G8900522A	USP7	NM_003470.3(USP7):c.2309+8C>T	noncoding	Benign
16	8900634	C	T	C8900634T	USP7	NM_003470.3(USP7):c.2209-4G>A	noncoding	Benign
16	8903379	A	T	A8903379T	USP7	NM_003470.3(USP7):c.1728T>A:p.Cys576Ter	coding	Pathogenic
16	8903412	T	C	T8903412C	USP7	NM_003470.3(USP7):c.1705-10A>G	noncoding	Benign
16	8905238	G	A	G8905238A	USP7	NM_003470.3(USP7):c.1522C>T:p.Arg508Ter	coding	Pathogenic
16	8906447	T	C	T8906447C	USP7	NM_003470.3(USP7):c.1407A>G:p.Leu469=	coding	Benign
16	8919036	G	A	G8919036A	USP7	NM_003470.3(USP7):c.715C>T:p.Arg239Ter	coding	Pathogenic
16	8919076	C	T	C8919076T	USP7	NM_003470.3(USP7):c.675G>A:p.Met225Ile	coding	Pathogenic
16	8921250	G	C	G8921250C	USP7	NM_003470.3(USP7):c.429C>G:p.Tyr143Ter	coding	Pathogenic
16	9753457	T	C	T9753457C	GRIN2A	NM_001134407.3(GRIN2A):c.*9692A>G	noncoding	Benign
16	9753517	A	T	A9753517T	GRIN2A	NM_001134407.3(GRIN2A):c.*9632T>A	noncoding	Benign
16	9753632	A	G	A9753632G	GRIN2A	NM_001134407.3(GRIN2A):c.*9517T>C	noncoding	Benign
16	9753824	C	G	C9753824G	GRIN2A	NM_001134407.3(GRIN2A):c.*9325G>C	noncoding	Benign
16	9754171	C	G	C9754171G	GRIN2A	NM_001134407.3(GRIN2A):c.*8978G>C	noncoding	Benign
16	9754396	A	G	A9754396G	GRIN2A	NM_001134407.3(GRIN2A):c.*8753T>C	noncoding	Benign
16	9754435	A	G	A9754435G	GRIN2A	NM_001134407.3(GRIN2A):c.*8714T>C	noncoding	Benign
16	9754614	T	G	T9754614G	GRIN2A	NM_001134407.3(GRIN2A):c.*8535A>C	noncoding	Benign
16	9754753	A	G	A9754753G	GRIN2A	NM_001134407.3(GRIN2A):c.*8396T>C	noncoding	Benign
16	9755072	A	C	A9755072C	GRIN2A	NM_001134407.3(GRIN2A):c.*8077T>G	noncoding	Benign
16	9755724	A	T	A9755724T	GRIN2A	NM_001134407.3(GRIN2A):c.*7425T>A	noncoding	Benign
16	9755800	G	A	G9755800A	GRIN2A	NM_001134407.3(GRIN2A):c.*7349C>T	noncoding	Benign
16	9755823	G	A	G9755823A	GRIN2A	NM_001134407.3(GRIN2A):c.*7326C>T	noncoding	Benign
16	9755825	C	G	C9755825G	GRIN2A	NM_001134407.3(GRIN2A):c.*7324G>C	noncoding	Benign
16	9755825	C	T	C9755825T	GRIN2A	NM_001134407.3(GRIN2A):c.*7324G>A	noncoding	Benign
16	9756037	T	A	T9756037A	GRIN2A	NM_001134407.3(GRIN2A):c.*7112A>T	noncoding	Benign
16	9756060	A	G	A9756060G	GRIN2A	NM_001134407.3(GRIN2A):c.*7089T>C	noncoding	Benign
16	9756208	G	A	G9756208A	GRIN2A	NM_001134407.3(GRIN2A):c.*6941C>T	noncoding	Benign
16	9756243	A	C	A9756243C	GRIN2A	NM_001134407.3(GRIN2A):c.*6906T>G	noncoding	Benign
16	9756540	A	G	A9756540G	GRIN2A	NM_001134407.3(GRIN2A):c.*6609T>C	noncoding	Benign
16	9756548	C	G	C9756548G	GRIN2A	NM_001134407.3(GRIN2A):c.*6601G>C	noncoding	Benign
16	9756552	C	T	C9756552T	GRIN2A	NM_001134407.3(GRIN2A):c.*6597G>A	noncoding	Benign
16	9756553	G	A	G9756553A	GRIN2A	NM_001134407.3(GRIN2A):c.*6596C>T	noncoding	Benign
16	9756604	G	T	G9756604T	GRIN2A	NM_001134407.3(GRIN2A):c.*6545C>A	noncoding	Benign
16	9756674	A	T	A9756674T	GRIN2A	NM_001134407.3(GRIN2A):c.*6475T>A	noncoding	Benign
16	9756677	C	G	C9756677G	GRIN2A	NM_001134407.3(GRIN2A):c.*6472G>C	noncoding	Benign
16	9756697	C	T	C9756697T	GRIN2A	NM_001134407.3(GRIN2A):c.*6452G>A	noncoding	Benign
16	9756698	G	A	G9756698A	GRIN2A	NM_001134407.3(GRIN2A):c.*6451C>T	noncoding	Benign
16	9756700	C	A	C9756700A	GRIN2A	NM_001134407.3(GRIN2A):c.*6449G>T	noncoding	Benign
16	9756705	C	T	C9756705T	GRIN2A	NM_001134407.3(GRIN2A):c.*6444G>A	noncoding	Benign
16	9756765	C	A	C9756765A	GRIN2A	NM_001134407.3(GRIN2A):c.*6384G>T	noncoding	Benign
16	9756826	G	A	G9756826A	GRIN2A	NM_001134407.3(GRIN2A):c.*6323C>T	noncoding	Benign
16	9756867	A	T	A9756867T	GRIN2A	NM_001134407.3(GRIN2A):c.*6282T>A	noncoding	Benign
16	9757000	G	C	G9757000C	GRIN2A	NM_001134407.3(GRIN2A):c.*6149C>G	noncoding	Benign
16	9757021	T	C	T9757021C	GRIN2A	NM_001134407.3(GRIN2A):c.*6128A>G	noncoding	Benign
16	9757153	G	A	G9757153A	GRIN2A	NM_001134407.3(GRIN2A):c.*5996C>T	noncoding	Benign
16	9757207	C	T	C9757207T	GRIN2A	NM_001134407.3(GRIN2A):c.*5942G>A	noncoding	Benign
16	9757265	C	T	C9757265T	GRIN2A	NM_001134407.3(GRIN2A):c.*5884G>A	noncoding	Benign
16	9757331	G	A	G9757331A	GRIN2A	NM_001134407.3(GRIN2A):c.*5818C>T	noncoding	Benign
16	9757373	T	A	T9757373A	GRIN2A	NM_001134407.3(GRIN2A):c.*5776A>T	noncoding	Benign
16	9757374	A	T	A9757374T	GRIN2A	NM_001134407.3(GRIN2A):c.*5775T>A	noncoding	Benign
16	9757409	T	G	T9757409G	GRIN2A	NM_001134407.3(GRIN2A):c.*5740A>C	noncoding	Benign
16	9757416	G	A	G9757416A	GRIN2A	NM_001134407.3(GRIN2A):c.*5733C>T	noncoding	Benign
16	9757429	G	C	G9757429C	GRIN2A	NM_001134407.3(GRIN2A):c.*5720C>G	noncoding	Benign
16	9757477	G	A	G9757477A	GRIN2A	NM_001134407.3(GRIN2A):c.*5672C>T	noncoding	Benign
16	9757551	C	T	C9757551T	GRIN2A	NM_001134407.3(GRIN2A):c.*5598G>A	noncoding	Benign
16	9757637	A	G	A9757637G	GRIN2A	NM_001134407.3(GRIN2A):c.*5512T>C	noncoding	Benign
16	9757702	C	A	C9757702A	GRIN2A	NM_001134407.3(GRIN2A):c.*5447G>T	noncoding	Benign
16	9757784	C	T	C9757784T	GRIN2A	NM_001134407.3(GRIN2A):c.*5365G>A	noncoding	Benign
16	9758037	G	A	G9758037A	GRIN2A	NM_001134407.3(GRIN2A):c.*5112C>T	noncoding	Benign
16	9758073	C	G	C9758073G	GRIN2A	NM_001134407.3(GRIN2A):c.*5076G>C	noncoding	Benign
16	9758104	A	T	A9758104T	GRIN2A	NM_001134407.3(GRIN2A):c.*5045T>A	noncoding	Benign
16	9758230	G	A	G9758230A	GRIN2A	NM_001134407.3(GRIN2A):c.*4919C>T	noncoding	Benign
16	9758410	A	G	A9758410G	GRIN2A	NM_001134407.3(GRIN2A):c.*4739T>C	noncoding	Benign
16	9758446	G	A	G9758446A	GRIN2A	NM_001134407.3(GRIN2A):c.*4703C>T	noncoding	Benign
16	9758845	A	G	A9758845G	GRIN2A	NM_001134407.3(GRIN2A):c.*4304T>C	noncoding	Benign
16	9758898	G	A	G9758898A	GRIN2A	NM_001134407.3(GRIN2A):c.*4251C>T	noncoding	Benign
16	9759113	T	C	T9759113C	GRIN2A	NM_001134407.3(GRIN2A):c.*4036A>G	noncoding	Benign
16	9759396	G	C	G9759396C	GRIN2A	NM_001134407.3(GRIN2A):c.*3753C>G	noncoding	Benign
16	9759428	A	G	A9759428G	GRIN2A	NM_001134407.3(GRIN2A):c.*3721T>C	noncoding	Benign
16	9759462	G	T	G9759462T	GRIN2A	NM_001134407.3(GRIN2A):c.*3687C>A	noncoding	Benign
16	9759666	G	A	G9759666A	GRIN2A	NM_001134407.3(GRIN2A):c.*3483C>T	noncoding	Benign
16	9759844	G	T	G9759844T	GRIN2A	NM_001134407.3(GRIN2A):c.*3305C>A	noncoding	Benign
16	9759929	G	A	G9759929A	GRIN2A	NM_001134407.3(GRIN2A):c.*3220C>T	noncoding	Benign
16	9760174	C	T	C9760174T	GRIN2A	NM_001134407.3(GRIN2A):c.*2975G>A	noncoding	Benign
16	9760225	T	G	T9760225G	GRIN2A	NM_001134407.3(GRIN2A):c.*2924A>C	noncoding	Benign
16	9760346	T	C	T9760346C	GRIN2A	NM_001134407.3(GRIN2A):c.*2803A>G	noncoding	Benign
16	9760532	C	G	C9760532G	GRIN2A	NM_001134407.3(GRIN2A):c.*2617G>C	noncoding	Benign
16	9760753	C	T	C9760753T	GRIN2A	NM_001134407.3(GRIN2A):c.*2396G>A	noncoding	Benign
16	9760913	C	T	C9760913T	GRIN2A	NM_001134407.3(GRIN2A):c.*2236G>A	noncoding	Benign
16	9760939	T	A	T9760939A	GRIN2A	NM_001134407.3(GRIN2A):c.*2210A>T	noncoding	Benign
16	9761132	G	C	G9761132C	GRIN2A	NM_001134407.3(GRIN2A):c.*2017C>G	noncoding	Benign
16	9761465	T	G	T9761465G	GRIN2A	NM_001134407.3(GRIN2A):c.*1684A>C	noncoding	Benign
16	9761639	G	A	G9761639A	GRIN2A	NM_001134407.3(GRIN2A):c.*1510C>T	noncoding	Benign
16	9761675	A	G	A9761675G	GRIN2A	NM_001134407.3(GRIN2A):c.*1474T>C	noncoding	Benign
16	9761764	G	T	G9761764T	GRIN2A	NM_001134407.3(GRIN2A):c.*1385C>A	noncoding	Benign
16	9761937	G	A	G9761937A	GRIN2A	NM_001134407.3(GRIN2A):c.*1212C>T	noncoding	Benign
16	9762147	G	A	G9762147A	GRIN2A	NM_001134407.3(GRIN2A):c.*1002C>T	noncoding	Benign
16	9762166	A	G	A9762166G	GRIN2A	NM_001134407.3(GRIN2A):c.*983T>C	noncoding	Benign
16	9762427	C	T	C9762427T	GRIN2A	NM_001134407.3(GRIN2A):c.*722G>A	noncoding	Benign
16	9762659	C	T	C9762659T	GRIN2A	NM_001134407.3(GRIN2A):c.*490G>A	noncoding	Benign
16	9763028	C	A	C9763028A	GRIN2A	NM_001134407.3(GRIN2A):c.*121G>T	noncoding	Benign
16	9763110	C	T	C9763110T	GRIN2A	NM_001134407.3(GRIN2A):c.*39G>A	noncoding	Benign
16	9763188	G	C	G9763188C	GRIN2A	NM_001134407.3(GRIN2A):c.4356C>G:p.Arg1452=	coding	Benign/Likely_benign
16	9763731	C	T	C9763731T	GRIN2A	NM_001134407.3(GRIN2A):c.3813G>A:p.Trp1271Ter	coding	Pathogenic
16	9763922	G	T	G9763922T	GRIN2A	NM_001134407.3(GRIN2A):c.3622C>A:p.Arg1208=	coding	Benign
16	9763953	A	T	A9763953T	GRIN2A	NM_001134407.3(GRIN2A):c.3591T>A:p.Gly1197=	coding	Benign
16	9764117	C	T	C9764117T	GRIN2A	NM_001134407.3(GRIN2A):c.3427G>A:p.Glu1143Lys	coding	Benign
16	9764298	G	A	G9764298A	GRIN2A	NM_001134407.3(GRIN2A):c.3246C>T:p.Thr1082=	coding	Benign/Likely_benign
16	9764316	G	T	G9764316T	GRIN2A	NM_001134407.3(GRIN2A):c.3228C>A:p.Asn1076Lys	coding	Benign/Likely_benign
16	9764354	T	C	T9764354C	GRIN2A	NM_001134407.3(GRIN2A):c.3190A>G:p.Thr1064Ala	coding	Benign/Likely_benign
16	9764645	C	G	C9764645G	GRIN2A	NM_001134407.3(GRIN2A):c.2899G>C:p.Val967Leu	coding	Benign/Likely_benign
16	9764692	C	A	C9764692A	GRIN2A	NM_001134407.3(GRIN2A):c.2852G>T:p.Gly951Val	coding	Benign/Likely_benign
16	9764715	G	C	G9764715C	GRIN2A	NM_001134407.3(GRIN2A):c.2829C>G:p.Tyr943Ter	coding	Pathogenic
16	9764784	T	C	T9764784C	GRIN2A	NM_001134407.3(GRIN2A):c.2760A>G:p.Arg920=	coding	Benign/Likely_benign
16	9764850	G	A	G9764850A	GRIN2A	NM_001134407.3(GRIN2A):c.2694C>T:p.Leu898=	coding	Benign/Likely_benign
16	9768699	G	T	G9768699T	GRIN2A	NM_001134407.3(GRIN2A):c.2595+152C>A	noncoding	Benign
16	9768914	C	T	C9768914T	GRIN2A	NM_001134407.3(GRIN2A):c.2532G>A:p.Lys844=	coding	Benign
16	9768949	T	C	T9768949C	GRIN2A	NM_001134407.3(GRIN2A):c.2497A>G:p.Ile833Val	coding	Benign
16	9768968	G	A	G9768968A	GRIN2A	NM_001134407.3(GRIN2A):c.2478C>T:p.Ala826=	coding	Benign/Likely_benign
16	9768996	A	C	A9768996C	GRIN2A	NM_001134407.3(GRIN2A):c.2450T>G:p.Met817Arg	coding	Pathogenic
16	9768996	A	G	A9768996G	GRIN2A	NM_001134407.3(GRIN2A):c.2450T>C:p.Met817Thr	coding	Pathogenic/Likely_pathogenic
16	9768997	T	C	T9768997C	GRIN2A	NM_001134407.3(GRIN2A):c.2449A>G:p.Met817Val	coding	Pathogenic
16	9769336	G	T	G9769336T	GRIN2A	NM_001134407.3(GRIN2A):c.2357-247C>A	noncoding	Benign
16	9798302	C	T	C9798302T	GRIN2A	NM_001134407.3(GRIN2A):c.2331G>A:p.Leu777=	coding	Benign
16	9798308	G	A	G9798308A	GRIN2A	NM_001134407.3(GRIN2A):c.2325C>T:p.Ile775=	coding	Benign/Likely_benign
16	9798356	G	A	G9798356A	GRIN2A	NM_001134407.3(GRIN2A):c.2277C>T:p.Thr759=	coding	Benign/Likely_benign
16	9798383	G	A	G9798383A	GRIN2A	NM_001134407.3(GRIN2A):c.2250C>T:p.Ile750=	coding	Benign/Likely_benign
16	9798433	C	G	C9798433G	GRIN2A	NM_001134407.3(GRIN2A):c.2200G>C:p.Val734Leu	coding	Pathogenic
16	9798443	G	A	G9798443A	GRIN2A	NM_001134407.3(GRIN2A):c.2190C>T:p.Tyr730=	coding	Benign/Likely_benign
16	9798444	T	C	T9798444C	GRIN2A	NM_001134407.3(GRIN2A):c.2189A>G:p.Tyr730Cys	coding	Pathogenic
16	9822286	C	T	C9822286T	GRIN2A	NM_001134407.3(GRIN2A):c.2146G>A:p.Ala716Thr	coding	Pathogenic/Likely_pathogenic
16	9822337	G	A	G9822337A	GRIN2A	NM_001134407.3(GRIN2A):c.2095C>T:p.Pro699Ser	coding	Pathogenic
16	9822347	C	G	C9822347G	GRIN2A	NM_001134407.3(GRIN2A):c.2085G>C:p.Arg695=	coding	Benign
16	9822378	A	C	A9822378C	GRIN2A	NM_001134407.3(GRIN2A):c.2054T>G:p.Val685Gly	coding	Pathogenic
16	9822391	G	A	G9822391A	GRIN2A	NM_001134407.3(GRIN2A):c.2041C>T:p.Arg681Ter	coding	Pathogenic
16	9822438	G	A	G9822438A	GRIN2A	NM_001134407.3(GRIN2A):c.2008-14C>T	noncoding	Benign
16	9829322	G	A	G9829322A	GRIN2A	NM_001134407.3(GRIN2A):c.2007+101C>T	noncoding	Benign
16	9829407	A	G	A9829407G	GRIN2A	NM_001134407.3(GRIN2A):c.2007+16T>C	noncoding	Benign
16	9829408	G	A	G9829408A	GRIN2A	NM_001134407.3(GRIN2A):c.2007+15C>T	noncoding	Benign
16	9829413	G	A	G9829413A	GRIN2A	NM_001134407.3(GRIN2A):c.2007+10C>T	noncoding	Benign/Likely_benign
16	9829469	A	G	A9829469G	GRIN2A	NM_001134407.3(GRIN2A):c.1961T>C:p.Ile654Thr	coding	Pathogenic
16	9829476	A	C	A9829476C	GRIN2A	NM_001134407.3(GRIN2A):c.1954T>G:p.Phe652Val	coding	Pathogenic
16	9829485	G	C	G9829485C	GRIN2A	NM_001134407.3(GRIN2A):c.1945C>G:p.Leu649Val	coding	Pathogenic
16	9829491	C	A	C9829491A	GRIN2A	NM_001134407.3(GRIN2A):c.1939G>T:p.Ala647Ser	coding	Pathogenic
16	9829529	C	T	C9829529T	GRIN2A	NM_001134407.3(GRIN2A):c.1901G>A:p.Trp634Ter	coding	Pathogenic
16	9829585	G	T	G9829585T	GRIN2A	NM_001134407.3(GRIN2A):c.1845C>A:p.Asn615Lys	coding	Pathogenic
16	9829589	T	C	T9829589C	GRIN2A	NM_001134407.3(GRIN2A):c.1841A>G:p.Asn614Ser	coding	Pathogenic
16	9834088	C	T	C9834088T	GRIN2A	NM_001134407.3(GRIN2A):c.1777+17G>A	noncoding	Benign
16	9834148	G	C	G9834148C	GRIN2A	NM_001134407.3(GRIN2A):c.1734C>G:p.Tyr578Ter	coding	Pathogenic
16	9834227	G	C	G9834227C	GRIN2A	NM_001134407.3(GRIN2A):c.1655C>G:p.Pro552Arg	coding	Pathogenic
16	9834243	A	G	A9834243G	GRIN2A	NM_001134407.3(GRIN2A):c.1652-13T>C	noncoding	Benign
16	9834244	G	C	G9834244C	GRIN2A	NM_001134407.3(GRIN2A):c.1652-14C>G	noncoding	Benign
16	9840669	G	A	G9840669A	GRIN2A	NM_001134407.3(GRIN2A):c.1629C>T:p.Thr543=	coding	Benign/Likely_benign
16	9840745	C	A	C9840745A	GRIN2A	NM_001134407.3(GRIN2A):c.1553G>T:p.Arg518Leu	coding	Pathogenic
16	9840745	C	T	C9840745T	GRIN2A	NM_001134407.3(GRIN2A):c.1553G>A:p.Arg518His	coding	Pathogenic/Likely_pathogenic
16	9840749	C	A	C9840749A	GRIN2A	NM_001134407.3(GRIN2A):c.1549G>T:p.Glu517Ter	coding	Pathogenic
16	9840791	G	A	G9840791A	GRIN2A	NM_001134407.3(GRIN2A):c.1507C>T:p.Gln503Ter	coding	Pathogenic
16	9840986	C	T	C9840986T	GRIN2A	NM_001134407.3(GRIN2A):c.1447G>A:p.Gly483Arg	coding	Pathogenic
16	9841099	G	T	G9841099T	GRIN2A	NM_001134407.3(GRIN2A):c.1334C>A:p.Ser445Ter	coding	Pathogenic
16	9841112	G	A	G9841112A	GRIN2A	NM_001134407.3(GRIN2A):c.1329-8C>T	noncoding	Benign
16	9841113	A	C	A9841113C	GRIN2A	NM_001134407.3(GRIN2A):c.1329-9T>G	noncoding	Benign/Likely_benign
16	9841209	T	G	T9841209G	GRIN2A	NM_001134407.3(GRIN2A):c.1329-105A>C	noncoding	Benign
16	9841376	T	C	T9841376C	GRIN2A	NM_001134407.3(GRIN2A):c.1329-272A>G	noncoding	Benign
16	9849575	G	T	G9849575T	GRIN2A	NM_001134407.3(GRIN2A):c.1328+181C>A	noncoding	Benign
16	9849614	T	A	T9849614A	GRIN2A	NM_001134407.3(GRIN2A):c.1328+142A>T	noncoding	Benign
16	9849778	A	G	A9849778G	GRIN2A	NM_001134407.3(GRIN2A):c.1306T>C:p.Cys436Arg	coding	Pathogenic
16	9849809	C	T	C9849809T	GRIN2A	NM_001134407.3(GRIN2A):c.1275G>A:p.Leu425=	coding	Benign
16	9849833	G	A	G9849833A	GRIN2A	NM_001134407.3(GRIN2A):c.1251C>T:p.Val417=	coding	Benign/Likely_benign
16	9849833	G	T	G9849833T	GRIN2A	NM_001134407.3(GRIN2A):c.1251C>A:p.Val417=	coding	Benign
16	9849962	C	T	C9849962T	GRIN2A	NM_001134407.3(GRIN2A):c.1123-1G>A	coding	Pathogenic
16	9849963	T	A	T9849963A	GRIN2A	NM_001134407.3(GRIN2A):c.1123-2A>T	noncoding	Pathogenic
16	9849963	T	C	T9849963C	GRIN2A	NM_001134407.3(GRIN2A):c.1123-2A>G	noncoding	Pathogenic
16	9850138	A	G	A9850138G	GRIN2A	NM_001134407.3(GRIN2A):c.1123-177T>C	noncoding	Benign
16	9890666	C	T	C9890666T	GRIN2A	NM_001134407.3(GRIN2A):c.1122+320G>A	noncoding	Benign
16	9890853	A	G	A9890853G	GRIN2A	NM_001134407.3(GRIN2A):c.1122+133T>C	noncoding	Benign
16	9891116	G	C	G9891116C	GRIN2A	NM_001134407.3(GRIN2A):c.1008-16C>G	noncoding	Benign
16	9937958	C	A	C9937958A	GRIN2A	NM_001134407.3(GRIN2A):c.1007+1G>T	noncoding	Pathogenic
16	9937958	C	T	C9937958T	GRIN2A	NM_001134407.3(GRIN2A):c.1007+1G>A	noncoding	Pathogenic
16	9938063	G	A	G9938063A	GRIN2A	NM_001134407.3(GRIN2A):c.903C>T:p.Thr301=	coding	Benign/Likely_benign
16	9938066	G	A	G9938066A	GRIN2A	NM_001134407.3(GRIN2A):c.900C>T:p.Thr300=	coding	Benign/Likely_benign
16	9938084	G	A	G9938084A	GRIN2A	NM_001134407.3(GRIN2A):c.882C>T:p.Asp294=	coding	Benign/Likely_benign
16	9938114	C	T	C9938114T	GRIN2A	NM_001134407.3(GRIN2A):c.852G>A:p.Trp284Ter	coding	Pathogenic
16	9938115	C	T	C9938115T	GRIN2A	NM_001134407.3(GRIN2A):c.851G>A:p.Trp284Ter	coding	Pathogenic
16	9938147	T	C	T9938147C	GRIN2A	NM_001134407.3(GRIN2A):c.819A>G:p.Pro273=	coding	Benign/Likely_benign
16	9938274	C	T	C9938274T	GRIN2A	NM_001134407.3(GRIN2A):c.692G>A:p.Cys231Tyr	coding	Pathogenic
16	9938297	G	A	G9938297A	GRIN2A	NM_001134407.3(GRIN2A):c.669C>T:p.His223=	coding	Benign/Likely_benign
16	9938304	T	C	T9938304C	GRIN2A	NM_001134407.3(GRIN2A):c.662A>G:p.Lys221Arg	coding	Benign/Likely_benign
16	9938314	G	A	G9938314A	GRIN2A	NM_001134407.3(GRIN2A):c.652C>T:p.Gln218Ter	coding	Pathogenic
16	9938479	G	A	G9938479A	GRIN2A	NM_001134407.3(GRIN2A):c.487C>T:p.Gln163Ter	coding	Pathogenic
16	9938519	C	T	C9938519T	GRIN2A	NM_001134407.3(GRIN2A):c.447G>A:p.Ala149=	coding	Benign/Likely_benign
16	9938544	G	A	G9938544A	GRIN2A	NM_001134407.3(GRIN2A):c.422C>T:p.Thr141Met	coding	Benign/Likely_benign
16	9938860	C	T	C9938860T	GRIN2A	NM_001134407.3(GRIN2A):c.415-309G>A	noncoding	Benign
16	10180106	G	A	G10180106A	GRIN2A	NM_001134407.3(GRIN2A):c.306C>T:p.Asp102=	coding	Benign/Likely_benign
16	10180176	G	C	G10180176C	GRIN2A	NM_001134407.3(GRIN2A):c.236C>G:p.Pro79Arg	coding	Pathogenic
16	10180187	G	A	G10180187A	GRIN2A	NM_001134407.3(GRIN2A):c.225C>T:p.Asn75=	coding	Benign
16	10180410	A	G	A10180410G	GRIN2A	NM_001134407.3(GRIN2A):c.2T>C:p.Met1Thr	coding	Pathogenic
16	10180774	G	T	G10180774T	GRIN2A	NM_001134407.3(GRIN2A):c.-18-345C>A	noncoding	Benign
16	10181869	G	A	G10181869A	GRIN2A	NM_001134407.3(GRIN2A):c.-19+8C>T	noncoding	Benign
16	10181892	G	T	G10181892T	GRIN2A	NM_001134407.3(GRIN2A):c.-34C>A	noncoding	Benign
16	10182078	G	A	G10182078A	GRIN2A	NM_001134407.3(GRIN2A):c.-220C>T	noncoding	Benign
16	10538060	G	A	G10538060A	EMP2	NM_001424.6(EMP2):c.184C>T:p.Gln62Ter	coding	Pathogenic
16	10538088	G	A	G10538088A	EMP2	NM_001424.6(EMP2):c.170-14C>T	noncoding	Benign
16	10547590	C	T	C10547590T	EMP2	NM_001424.6(EMP2):c.28G>A:p.Ala10Thr	coding	Pathogenic
16	10547597	G	C	G10547597C	EMP2	NM_001424.6(EMP2):c.21C>G:p.Phe7Leu	coding	Pathogenic
16	10877285	G	A	G10877285A	CIITA	NM_000246.3(CIITA):c.-46G>A	noncoding	Benign
16	10895362	C	G	C10895362G	CIITA	NM_000246.3(CIITA):c.133C>G:p.Leu45Val	coding	Benign
16	10895659	T	C	T10895659C	CIITA	NM_000246.3(CIITA):c.200-10T>C	noncoding	Benign
16	10895694	C	T	C10895694T	CIITA	NM_000246.3(CIITA):c.225C>T:p.Cys75=	coding	Benign
16	10898743	G	A	G10898743A	CIITA	NM_000246.3(CIITA):c.358+11G>A	noncoding	Benign
16	10898936	C	A	C10898936A	CIITA	NM_000246.3(CIITA):c.370C>A:p.Pro124Thr	coding	Benign
16	10902050	C	G	C10902050G	CIITA	NM_000246.3(CIITA):c.494C>G:p.Thr165Ser	coding	Benign
16	10902076	G	A	G10902076A	CIITA	NM_000246.3(CIITA):c.520G>A:p.Gly174Arg	coding	Benign
16	10902720	C	T	C10902720T	CIITA	NM_000246.3(CIITA):c.691C>T:p.Pro231Ser	coding	Benign
16	10903880	C	T	C10903880T	CIITA	NM_000246.3(CIITA):c.922C>T:p.Arg308Ter	coding	Pathogenic
16	10906633	G	T	G10906633T	CIITA	NM_001286403.2(CIITA):c.859+1821G>T	coding	Pathogenic
16	10906722	G	A	G10906722A	CIITA	NM_000246.3(CIITA):c.1230G>A:p.Pro410=	coding	Benign/Likely_benign
16	10906921	C	A	C10906921A	CIITA	NM_000246.3(CIITA):c.1429C>A:p.Leu477Ile	coding	Benign
16	10906983	C	T	C10906983T	CIITA	NM_000246.3(CIITA):c.1491C>T:p.Ile497=	coding	Benign
16	10906991	G	C	G10906991C	CIITA	NM_000246.3(CIITA):c.1499G>C:p.Gly500Ala	coding	Benign
16	10907232	C	G	C10907232G	CIITA	NM_000246.3(CIITA):c.1740C>G:p.Arg580=	coding	Benign
16	10907283	C	G	C10907283G	CIITA	NM_000246.3(CIITA):c.1791C>G:p.Leu597=	coding	Benign
16	10907465	C	G	C10907465G	CIITA	NM_000246.3(CIITA):c.1973C>G:p.Ala658Gly	coding	Benign
16	10907518	C	T	C10907518T	CIITA	NM_000246.3(CIITA):c.2026C>T:p.Gln676Ter	coding	Pathogenic
16	10907555	G	A	G10907555A	CIITA	NM_001286403.2(CIITA):c.860-1428G>A	coding	Pathogenic
16	10907564	C	A	C10907564A	CIITA	NM_000246.3(CIITA):c.2072C>A:p.Ala691Asp	coding	Benign
16	10907671	G	C	G10907671C	CIITA	NM_000246.3(CIITA):c.2179G>C:p.Glu727Gln	coding	Benign/Likely_benign
16	10907778	C	A	C10907778A	CIITA	NM_000246.3(CIITA):c.2286C>A:p.Ile762=	coding	Benign
16	10907823	G	T	G10907823T	CIITA	NM_000246.3(CIITA):c.2331G>T:p.Ser777=	coding	Benign
16	10907834	C	T	C10907834T	CIITA	NM_000246.3(CIITA):c.2342C>T:p.Ser781Leu	coding	Benign
16	10907837	T	C	T10907837C	CIITA	NM_000246.3(CIITA):c.2345T>C:p.Val782Ala	coding	Benign
16	10907886	G	A	G10907886A	CIITA	NM_000246.3(CIITA):c.2394G>A:p.Pro798=	coding	Benign
16	10907913	G	T	G10907913T	CIITA	NM_000246.3(CIITA):c.2421G>T:p.Leu807=	coding	Benign
16	10907940	C	T	C10907940T	CIITA	NM_000246.3(CIITA):c.2448C>T:p.Ala816=	coding	Benign/Likely_benign
16	10907964	C	T	C10907964T	CIITA	NM_000246.3(CIITA):c.2472C>T:p.His824=	coding	Benign
16	10908057	G	A	G10908057A	CIITA	NM_000246.3(CIITA):c.2565G>A:p.Ala855=	coding	Benign
16	10909047	G	A	G10909047A	CIITA	NM_000246.3(CIITA):c.2676G>A:p.Thr892=	coding	Benign
16	10909053	G	A	G10909053A	CIITA	NM_000246.3(CIITA):c.2682G>A:p.Ala894=	coding	Benign
16	10909070	A	G	A10909070G	CIITA	NM_000246.3(CIITA):c.2699A>G:p.Gln900Arg	coding	Benign
16	10915605	A	G	A10915605G	CIITA	NM_000246.3(CIITA):c.2924A>G:p.Lys975Arg	coding	Benign
16	10918485	C	T	C10918485T	CIITA	NM_000246.3(CIITA):c.3108C>T:p.Ala1036=	coding	Benign
16	10922161	C	T	C10922161T	CIITA	NM_000246.3(CIITA):c.3150-6C>T	noncoding	Benign
16	10922188	C	T	C10922188T	CIITA	NM_000246.3(CIITA):c.3171C>T:p.Cys1057=	coding	Benign
16	10922428	G	A	G10922428A	CIITA	NM_000246.3(CIITA):c.3255G>A:p.Thr1085=	coding	Benign
16	10922491	G	A	G10922491A	CIITA	NM_000246.3(CIITA):c.3317+1G>A	coding	Pathogenic
16	10923871	G	C	G10923871C	CIITA	NM_000246.3(CIITA):c.*23-7G>C	noncoding	Benign
16	10924013	G	A	G10924013A	CIITA	NM_000246.3(CIITA):c.*158G>A	noncoding	Benign
16	10924545	C	T	C10924545T	CIITA	NM_000246.3(CIITA):c.*690C>T	noncoding	Benign
16	10924590	G	A	G10924590A	CIITA	NM_000246.3(CIITA):c.*735G>A	noncoding	Benign
16	10924765	T	C	T10924765C	CIITA	NM_000246.3(CIITA):c.*910T>C	noncoding	Benign
16	10924766	G	A	G10924766A	CIITA	NM_000246.3(CIITA):c.*911G>A	noncoding	Benign
16	10924981	T	G	T10924981G	CIITA	NM_000246.3(CIITA):c.*1126T>G	noncoding	Benign
16	11020313	C	T	C11020313T	CLEC16A	NM_015226.3(CLEC16A):c.1424C>T:p.Thr475Met	coding	Benign
16	11178370	C	T	C11178370T	CLEC16A	NM_015226.3(CLEC16A):c.2842C>T:p.Leu948Phe	coding	Benign
16	11254915	G	A	G11254915A	SOCS1	NM_003745.1(SOCS1):c.564C>T:p.Arg188=	coding	Benign
16	11269134	G	T	G11269134T	TNP2	NM_005425.5(TNP2):c.129C>A:p.Gly43=	coding	Benign
16	11276090	G	A	G11276090A	PRM2	NM_002762.4(PRM2):c.271+10C>T	coding	Benign
16	11548005	G	C	G11548005C	LITAF	NM_001136473.1(LITAF):c.*1757C>G	noncoding	Benign
16	11548010	C	T	C11548010T	LITAF	NM_001136473.1(LITAF):c.*1752G>A	noncoding	Benign
16	11548144	A	C	A11548144C	LITAF	NM_001136473.1(LITAF):c.*1618T>G	noncoding	Benign
16	11548222	G	T	G11548222T	LITAF	NM_001136473.1(LITAF):c.*1540C>A	noncoding	Benign
16	11548386	T	C	T11548386C	LITAF	NM_001136473.1(LITAF):c.*1376A>G	noncoding	Benign
16	11548733	C	T	C11548733T	LITAF	NM_001136473.1(LITAF):c.*1029G>A	noncoding	Benign
16	11548821	A	T	A11548821T	LITAF	NM_001136473.1(LITAF):c.*941T>A	noncoding	Benign
16	11548841	A	G	A11548841G	LITAF	NM_001136473.1(LITAF):c.*921T>C	noncoding	Benign
16	11548926	C	A	C11548926A	LITAF	NM_001136473.1(LITAF):c.*836G>T	noncoding	Benign
16	11549198	C	T	C11549198T	LITAF	NM_001136473.1(LITAF):c.*564G>A	noncoding	Benign
16	11549216	G	A	G11549216A	LITAF	NM_001136473.1(LITAF):c.*546C>T	noncoding	Benign
16	11549494	G	A	G11549494A	LITAF	NM_001136473.1(LITAF):c.*268C>T	noncoding	Benign
16	11549538	G	A	G11549538A	LITAF	NM_001136473.1(LITAF):c.*224C>T	noncoding	Benign
16	11551873	C	T	C11551873T	LITAF	NM_001136473.1(LITAF):c.378-69G>A	noncoding	Benign
16	11552078	T	C	T11552078C	LITAF	NM_001136473.1(LITAF):c.378-274A>G	noncoding	Benign
16	11552098	G	A	G11552098A	LITAF	NM_001136473.1(LITAF):c.378-294C>T	noncoding	Benign
16	11553546	G	C	G11553546C	LITAF	NM_001136473.1(LITAF):c.364C>G:p.Leu122Val	coding	Pathogenic
16	11553553	G	A	G11553553A	LITAF	NM_001136473.1(LITAF):c.357C>T:p.Cys119=	coding	Benign/Likely_benign
16	11553564	A	C	A11553564C	LITAF	NM_001136473.1(LITAF):c.346T>G:p.Trp116Gly	coding	Pathogenic
16	11553566	G	T	G11553566T	LITAF	NM_001136473.1(LITAF):c.344C>A:p.Thr115Asn	coding	Pathogenic/Likely_pathogenic
16	11553576	C	T	C11553576T	LITAF	NM_001136473.1(LITAF):c.334G>A:p.Gly112Ser	coding	Pathogenic
16	11553577	G	A	G11553577A	LITAF	NM_001136473.1(LITAF):c.333C>T:p.Ala111=	coding	Benign
16	11553578	G	C	G11553578C	LITAF	NM_001136473.1(LITAF):c.332C>G:p.Ala111Gly	coding	Pathogenic
16	11553580	G	A	G11553580A	LITAF	NM_001136473.1(LITAF):c.330C>T:p.Asn110=	coding	Benign/Likely_benign
16	11553636	T	C	T11553636C	LITAF	NM_001136473.1(LITAF):c.274A>G:p.Ile92Val	coding	Benign
16	11553676	C	T	C11553676T	LITAF	NM_001136473.1(LITAF):c.234G>A:p.Thr78=	coding	Benign
16	11556201	T	C	T11556201C	LITAF	NM_001136473.1(LITAF):c.220+310A>G	noncoding	Benign
16	11556469	G	A	G11556469A	LITAF	NM_001136473.1(LITAF):c.220+42C>T	noncoding	Benign
16	11556704	C	T	C11556704T	LITAF	NM_001136473.1(LITAF):c.27G>A:p.Ala9=	coding	Benign/Likely_benign
16	11556725	C	T	C11556725T	LITAF	NM_001136473.1(LITAF):c.6G>A:p.Ser2=	coding	Benign/Likely_benign
16	11557031	C	T	C11557031T	LITAF	NM_001136473.1(LITAF):c.-5-296G>A	noncoding	Benign
16	11586292	T	C	T11586292C	LITAF	NM_001136473.1(LITAF):c.-6+594A>G	noncoding	Benign
16	11586328	G	A	G11586328A	LITAF	NM_001136473.1(LITAF):c.-6+558C>T	noncoding	Benign
16	11679405	G	C	G11679405C	TXNDC11	NM_015914.7(TXNDC11):c.2667C>G:p.Thr889=	coding	Benign
16	11687934	G	A	G11687934A	TXNDC11	NM_015914.7(TXNDC11):c.2076C>T:p.Cys692=	coding	Benign
16	11687946	G	A	G11687946A	TXNDC11	NM_015914.7(TXNDC11):c.2064C>T:p.Tyr688=	coding	Benign
16	11967820	G	C	G11967820C	TNFRSF17	NM_001192.3(TNFRSF17):c.528G>C:p.Glu176Asp	coding	Benign
16	13920198	C	T	C13920198T	ERCC4	NM_005236.2(ERCC4):c.33C>T:p.Ala11=	coding	Benign
16	13920383	G	A	G13920383A	ERCC4	NM_005236.2(ERCC4):c.207+11G>A	noncoding	Benign
16	13922064	G	T	G13922064T	ERCC4	NM_005236.2(ERCC4):c.241G>T:p.Val81Phe	coding	Benign
16	13922075	C	T	C13922075T	ERCC4	NM_005236.2(ERCC4):c.252C>T:p.Leu84=	coding	Benign/Likely_benign
16	13926556	C	T	C13926556T	ERCC4	NM_005236.2(ERCC4):c.389-5C>T	noncoding	Benign
16	13926630	G	C	G13926630C	ERCC4	NM_005236.2(ERCC4):c.458G>C:p.Arg153Pro	coding	Pathogenic
16	13928132	T	C	T13928132C	ERCC4	NM_005236.2(ERCC4):c.689T>C:p.Leu230Pro	coding	Pathogenic
16	13928149	T	C	T13928149C	ERCC4	NM_005236.2(ERCC4):c.706T>C:p.Cys236Arg	coding	Pathogenic
16	13930708	A	G	A13930708G	ERCC4	NM_005236.3(ERCC4):c.793-2A>G	noncoding	Pathogenic
16	13932150	G	A	G13932150A	ERCC4	NM_005236.2(ERCC4):c.974-7G>A	noncoding	Benign
16	13932151	T	C	T13932151C	ERCC4	NM_005236.2(ERCC4):c.974-6T>C	noncoding	Benign/Likely_benign
16	13935176	G	A	G13935176A	ERCC4	NM_005236.2(ERCC4):c.1244G>A:p.Arg415Gln	coding	Benign
16	13935378	A	G	A13935378G	ERCC4	NM_005236.2(ERCC4):c.1446A>G:p.Glu482=	coding	Benign
16	13935697	C	T	C13935697T	ERCC4	NM_005236.2(ERCC4):c.1765C>T:p.Arg589Trp	coding	Pathogenic/Likely_pathogenic
16	13937761	T	C	T13937761C	ERCC4	NM_005236.2(ERCC4):c.1812-5T>C	noncoding	Benign/Likely_benign
16	13937838	A	G	A13937838G	ERCC4	NM_005236.2(ERCC4):c.1884A>G:p.Glu628=	coding	Benign
16	13944802	T	C	T13944802C	ERCC4	NM_005236.2(ERCC4):c.1984T>C:p.Ser662Pro	coding	Benign
16	13948059	A	G	A13948059G	ERCC4	NM_005236.2(ERCC4):c.2463A>G:p.Pro821=	coding	Benign
16	13948101	T	C	T13948101C	ERCC4	NM_005236.2(ERCC4):c.2505T>C:p.Ser835=	coding	Benign
16	13948213	A	G	A13948213G	ERCC4	NM_005236.2(ERCC4):c.2617A>G:p.Ile873Val	coding	Benign/Likely_benign
16	13948220	A	G	A13948220G	ERCC4	NM_005236.2(ERCC4):c.2624A>G:p.Glu875Gly	coding	Benign/Likely_benign
16	13948251	G	A	G13948251A	ERCC4	NM_005236.2(ERCC4):c.2655G>A:p.Thr885=	coding	Benign
16	13948320	C	T	C13948320T	ERCC4	NM_005236.2(ERCC4):c.2724C>T:p.Val908=	coding	Benign/Likely_benign
16	13948358	C	T	C13948358T	ERCC4	NM_005236.2(ERCC4):c.*11C>T	noncoding	Benign
16	13948831	G	T	G13948831T	ERCC4	NM_005236.2(ERCC4):c.*484G>T	noncoding	Benign
16	13949021	G	C	G13949021C	ERCC4	NM_005236.2(ERCC4):c.*674G>C	noncoding	Benign
16	13949073	G	C	G13949073C	ERCC4	NM_005236.2(ERCC4):c.*726G>C	noncoding	Benign
16	13949157	G	A	G13949157A	ERCC4	NM_005236.2(ERCC4):c.*810G>A	noncoding	Benign
16	13949318	C	G	C13949318G	ERCC4	NM_005236.2(ERCC4):c.*971C>G	noncoding	Benign
16	13949768	G	T	G13949768T	ERCC4	NM_005236.2(ERCC4):c.*1421G>T	noncoding	Benign
16	13949819	C	T	C13949819T	ERCC4	NM_005236.3(ERCC4):c.*1472C>T	noncoding	Benign
16	13950227	C	T	C13950227T	ERCC4	NM_005236.2(ERCC4):c.*1880C>T	noncoding	Benign
16	13950521	A	G	A13950521G	ERCC4	NM_005236.2(ERCC4):c.*2174A>G	noncoding	Benign
16	13950860	C	A	C13950860A	ERCC4	NM_005236.2(ERCC4):c.*2513C>A	noncoding	Benign
16	13950886	A	G	A13950886G	ERCC4	NM_005236.3(ERCC4):c.*2539A>G	noncoding	Benign
16	13950924	C	A	C13950924A	ERCC4	NM_005236.2(ERCC4):c.*2577C>A	noncoding	Benign/Likely_benign
16	13951091	T	A	T13951091A	ERCC4	NM_005236.3(ERCC4):c.*2744T>A	noncoding	Benign
16	13951379	G	T	G13951379T	ERCC4	NM_005236.2(ERCC4):c.*3032G>T	noncoding	Benign
16	13951472	A	G	A13951472G	ERCC4	NM_005236.2(ERCC4):c.*3125A>G	noncoding	Benign
16	13951674	A	G	A13951674G	ERCC4	NM_005236.2(ERCC4):c.*3327A>G	noncoding	Benign
16	13951840	T	C	T13951840C	ERCC4	NM_005236.2(ERCC4):c.*3493T>C	noncoding	Benign
16	13952148	C	T	C13952148T	ERCC4	NM_005236.2(ERCC4):c.*3801C>T	noncoding	Benign
16	13952260	G	C	G13952260C	ERCC4	NM_005236.2(ERCC4):c.*3913G>C	noncoding	Benign
16	14140633	C	T	C14140633T	MRTFB	NM_001308142.2(MRTFB):c.27C>T:p.Thr9=	coding	Benign
16	14140747	C	T	C14140747T	MRTFB	NM_001308142.2(MRTFB):c.141C>T:p.Asn47=	coding	Benign
16	14247189	A	G	A14247189G	MRTFB	NM_001308142.2(MRTFB):c.1929A>G:p.Ser643=	coding	Benign
16	14247199	T	C	T14247199C	MRTFB	NM_001308142.2(MRTFB):c.1939T>C:p.Cys647Arg	coding	Benign
16	14446991	G	A	G14446991A	PARN	NM_002582.4(PARN):c.1761C>T:p.Ser587=	coding	Benign
16	14447011	C	T	C14447011T	PARN	NM_002582.4(PARN):c.1741G>A:p.Gly581Arg	coding	Benign
16	14447062	C	T	C14447062T	PARN	NM_002582.4(PARN):c.1690G>A:p.Val564Ile	coding	Benign
16	14554087	A	G	A14554087G	PARN	NM_002582.4(PARN):c.1383T>C:p.Leu461=	coding	Benign
16	14555717	A	C	A14555717C	PARN	NM_002582.4(PARN):c.1263-8T>G	noncoding	Benign
16	14580874	T	C	T14580874C	PARN	NM_002582.4(PARN):c.1262A>G:p.Lys421Arg	coding	Pathogenic
16	14582177	G	A	G14582177A	PARN	NM_002582.4(PARN):c.1192+4C>T	noncoding	Benign/Likely_benign
16	14582225	G	A	G14582225A	PARN	NM_002582.4(PARN):c.1148C>T:p.Ala383Val	coding	Pathogenic
16	14582271	T	A	T14582271A	PARN	NM_002582.4(PARN):c.1102A>T:p.Ser368Cys	coding	Benign/Likely_benign
16	14584383	G	A	G14584383A	PARN	NM_002582.4(PARN):c.1045C>T:p.Arg349Trp	coding	Pathogenic
16	14584427	A	G	A14584427G	PARN	NM_002582.4(PARN):c.1006-5T>C	noncoding	Benign
16	14593300	C	A	C14593300A	PARN	NM_002582.4(PARN):c.918+1G>T	noncoding	Pathogenic
16	14599898	A	G	A14599898G	PARN	NM_002582.4(PARN):c.840+6T>C	noncoding	Benign
16	14599919	G	A	G14599919A	PARN	NM_002582.4(PARN):c.825C>T:p.His275=	coding	Benign
16	14604220	G	A	G14604220A	PARN	NM_002582.4(PARN):c.709C>T:p.Arg237Ter	coding	Pathogenic
16	14608283	C	T	C14608283T	PARN	NM_002582.4(PARN):c.657G>A:p.Trp219Ter	coding	Pathogenic
16	14610669	G	A	G14610669A	PARN	NM_002582.4(PARN):c.529C>T:p.Gln177Ter	coding	Pathogenic
16	14627189	T	C	T14627189C	PARN	NM_002582.4(PARN):c.246-2A>G	noncoding	Pathogenic
16	14628177	T	A	T14628177A	PARN	NM_002582.4(PARN):c.172A>T:p.Lys58Ter	coding	Pathogenic
16	14629645	G	A	G14629645A	PARN	NM_002582.4(PARN):c.49C>T:p.Gln17Ter	coding	Pathogenic
16	14655161	G	A	G14655161A	BFAR	NM_016561.3(BFAR):c.734G>A:p.Arg245His	coding	Benign
16	15004190	C	G	C15004190G	PDXDC1	NM_015027.4(PDXDC1):c.246C>G:p.Ile82Met	coding	Benign
16	15008813	C	A	C15008813A	PDXDC1	NM_015027.4(PDXDC1):c.614C>A:p.Pro205His	coding	Benign
16	15016220	C	T	C15016220T	PDXDC1	NM_015027.4(PDXDC1):c.812+7C>T	noncoding	Benign
16	15032887	G	A	G15032887A	PDXDC1	NM_015027.4(PDXDC1):c.1598G>A:p.Ser533Asn	coding	Benign
16	15091329	C	T	C15091329T	RRN3	NM_018427.5(RRN3):c.238G>A:p.Asp80Asn	coding	Benign
16	15643418	G	A	G15643418A	NDE1	NM_001143979.2(NDE1):c.-675G>A	noncoding	Benign
16	15643529	C	T	C15643529T	NDE1	NM_001143979.2(NDE1):c.-564C>T	noncoding	Benign
16	15643548	A	G	A15643548G	NDE1	NM_001143979.2(NDE1):c.-545A>G	noncoding	Benign
16	15643861	A	G	A15643861G	NDE1	NM_001143979.2(NDE1):c.-232A>G	noncoding	Benign
16	15664862	G	T	G15664862T	NDE1	NM_017668.3(NDE1):c.83+1G>T	coding	Pathogenic
16	15667311	C	T	C15667311T	NDE1	NM_017668.3(NDE1):c.109C>T:p.Arg37Ter	coding	Pathogenic
16	15667576	C	G	C15667576G	NDE1	NM_017668.3(NDE1):c.237+137C>G	noncoding	Benign
16	15677744	T	C	T15677744C	NDE1	NM_017668.3(NDE1):c.238-57T>C	noncoding	Benign
16	15687197	A	G	A15687197G	NDE1	NM_017668.3(NDE1):c.387-178A>G	noncoding	Benign
16	15687235	G	T	G15687235T	NDE1	NM_017668.3(NDE1):c.387-140G>T	noncoding	Benign
16	15687474	C	T	C15687474T	NDE1	NM_017668.3(NDE1):c.486C>T:p.Leu162=	coding	Benign
16	15691192	C	T	C15691192T	NDE1	NM_017668.3(NDE1):c.572C>T:p.Thr191Ile	coding	Benign/Likely_benign
16	15691278	C	T	C15691278T	NDE1	NM_017668.3(NDE1):c.658C>T:p.Arg220Ter	coding	Pathogenic
16	15694164	G	A	G15694164A	NDE1	NM_017668.3(NDE1):c.704-1G>A	noncoding	Pathogenic
16	15696750	C	T	C15696750T	NDE1	NM_017668.3(NDE1):c.837C>T:p.Tyr279=	coding	Benign
16	15703447	C	T	C15703447T	MYH11;NDE1	NM_002474.3(MYH11):c.*544G>A	coding	Benign/Likely_benign
16	15703571	G	C	G15703571C	MYH11;NDE1	NM_002474.3(MYH11):c.*420C>G	coding	Benign/Likely_benign
16	15703978	T	C	T15703978C	MYH11	NM_002474.3(MYH11):c.*13A>G	coding	Benign
16	15703986	G	C	G15703986C	MYH11;NDE1	NM_002474.3(MYH11):c.*5C>G	coding	Benign/Likely_benign
16	15704114	G	A	G15704114A	MYH11	NM_002474.3(MYH11):c.5796C>T:p.Asn1932=	coding	Benign/Likely_benign
16	15704353	G	T	G15704353T	MYH11	NM_002474.3(MYH11):c.5787-230C>A	noncoding	Benign
16	15708806	G	C	G15708806C	MYH11	NM_002474.3(MYH11):c.5787-4683C>G	coding	Benign
16	15708830	G	T	G15708830T	MYH11	NM_002474.3(MYH11):c.5787-4707C>A	coding	Benign/Likely_benign
16	15708831	G	C	G15708831C	MYH11	NM_002474.3(MYH11):c.5787-4708C>G	coding	Benign/Likely_benign
16	15714938	G	A	G15714938A	MYH11;NDE1	NM_002474.3(MYH11):c.5757C>T:p.Arg1919=	coding	Benign/Likely_benign
16	15715004	G	A	G15715004A	MYH11	NM_002474.3(MYH11):c.5691C>T:p.Asn1897=	coding	Benign/Likely_benign
16	15715019	C	G	C15715019G	MYH11	NM_002474.3(MYH11):c.5676G>C:p.Glu1892Asp	coding	Benign/Likely_benign
16	15715086	C	T	C15715086T	MYH11	NM_002474.3(MYH11):c.5614-5G>A	noncoding	Benign
16	15715182	G	A	G15715182A	MYH11	NM_002474.3(MYH11):c.5595C>T:p.Ala1865=	coding	Benign/Likely_benign
16	15715191	G	C	G15715191C	MYH11	NM_002474.3(MYH11):c.5586C>G:p.Arg1862=	coding	Benign/Likely_benign
16	15715260	C	T	C15715260T	MYH11;NDE1	NM_002474.3(MYH11):c.5517G>A:p.Ala1839=	coding	Benign/Likely_benign
16	15717025	G	C	G15717025C	MYH11	NM_002474.3(MYH11):c.5504+115C>G	noncoding	Benign
16	15717132	C	G	C15717132G	MYH11	NM_002474.3(MYH11):c.5504+8G>C	noncoding	Benign/Likely_benign
16	15717166	C	T	C15717166T	MYH11;NDE1	NM_002474.3(MYH11):c.5478G>A:p.Leu1826=	coding	Benign/Likely_benign
16	15717205	C	T	C15717205T	MYH11;NDE1	NM_002474.3(MYH11):c.5439G>A:p.Lys1813=	coding	Benign/Likely_benign
16	15717265	C	T	C15717265T	MYH11	NM_002474.3(MYH11):c.5379G>A:p.Gln1793=	coding	Benign/Likely_benign
16	15717274	G	A	G15717274A	MYH11;NDE1	NM_002474.3(MYH11):c.5370C>T:p.Leu1790=	coding	Benign/Likely_benign
16	15717331	G	A	G15717331A	MYH11	NM_002474.3(MYH11):c.5313C>T:p.Asn1771=	coding	Benign/Likely_benign
16	15717352	G	A	G15717352A	MYH11;NDE1	NM_002474.3(MYH11):c.5296-4C>T	noncoding	Benign/Likely_benign
16	15717397	G	C	G15717397C	MYH11	NM_002474.3(MYH11):c.5296-49C>G	noncoding	Benign
16	15718239	G	A	G15718239A	MYH11	NM_002474.3(MYH11):c.5295+76C>T	noncoding	Benign
16	15718443	G	A	G15718443A	MYH11	NM_002474.3(MYH11):c.5172-5C>T	noncoding	Benign/Likely_benign
16	15718452	G	A	G15718452A	MYH11;NDE1	NM_002474.3(MYH11):c.5172-14C>T	noncoding	Benign/Likely_benign
16	15719354	G	T	G15719354T	MYH11	NM_002474.3(MYH11):c.5083-46C>A	noncoding	Benign
16	15719693	T	C	T15719693C	MYH11	NM_002474.3(MYH11):c.4974A>G:p.Gln1658=	coding	Benign
16	15719776	G	A	G15719776A	MYH11	NM_002474.3(MYH11):c.4954-63C>T	noncoding	Benign
16	15719909	C	A	C15719909A	MYH11	NM_002474.3(MYH11):c.4954-196G>T	noncoding	Benign
16	15720088	C	T	C15720088T	MYH11	NM_002474.3(MYH11):c.4953+63G>A	noncoding	Benign
16	15720133	G	A	G15720133A	MYH11	NM_002474.3(MYH11):c.4953+18C>T	noncoding	Benign
16	15720420	A	G	A15720420G	MYH11	NM_002474.3(MYH11):c.4792-108T>C	noncoding	Benign
16	15720613	A	G	A15720613G	MYH11	NM_002474.3(MYH11):c.4791+226T>C	noncoding	Benign
16	15720823	C	A	C15720823A	MYH11	NM_002474.3(MYH11):c.4791+16G>T	noncoding	Benign/Likely_benign
16	15720835	G	A	G15720835A	MYH11	NM_002474.3(MYH11):c.4791+4C>T	noncoding	Benign/Likely_benign
16	15720856	T	G	T15720856G	MYH11	NM_002474.3(MYH11):c.4774A>C:p.Arg1592=	coding	Benign/Likely_benign
16	15720860	C	T	C15720860T	MYH11;NDE1	NM_002474.3(MYH11):c.4770G>A:p.Lys1590=	coding	Benign/Likely_benign
16	15721057	G	A	G15721057A	MYH11	NM_002474.3(MYH11):c.4579-6C>T	noncoding	Benign/Likely_benign
16	15721064	C	T	C15721064T	MYH11;NDE1	NM_002474.3(MYH11):c.4579-13G>A	noncoding	Benign/Likely_benign
16	15721403	A	G	A15721403G	MYH11	NM_002474.3(MYH11):c.4578+19T>C	noncoding	Benign
16	15721421	C	G	C15721421G	MYH11	NM_002474.3(MYH11):c.4578+1G>C	noncoding	Pathogenic
16	15721421	C	T	C15721421T	MYH11	NM_002474.3(MYH11):c.4578+1G>A	noncoding	Pathogenic
16	15721494	G	A	G15721494A	MYH11	NM_002474.3(MYH11):c.4506C>T:p.Leu1502=	coding	Benign/Likely_benign
16	15721599	G	A	G15721599A	MYH11;NDE1	NM_002474.3(MYH11):c.4401C>T:p.Tyr1467=	coding	Benign/Likely_benign
16	15721599	G	C	G15721599C	MYH11	NM_002474.3(MYH11):c.4401C>G:p.Tyr1467Ter	coding	Pathogenic
16	15723851	T	C	T15723851C	MYH11	NM_002474.3(MYH11):c.4365+310A>G	noncoding	Benign
16	15724138	G	A	G15724138A	MYH11;NDE1	NM_002474.3(MYH11):c.4365+23C>T	noncoding	Benign
16	15724284	A	C	A15724284C	MYH11;NDE1	NM_002474.3(MYH11):c.4242T>G:p.Ala1414=	coding	Benign
16	15724287	G	A	G15724287A	MYH11	NM_002474.3(MYH11):c.4239C>T:p.Ala1413=	coding	Benign/Likely_benign
16	15724323	G	A	G15724323A	MYH11	NM_002474.3(MYH11):c.4203C>T:p.Ile1401=	coding	Benign/Likely_benign
16	15724329	C	T	C15724329T	MYH11	NM_002474.3(MYH11):c.4197G>A:p.Lys1399=	coding	Benign/Likely_benign
16	15724368	G	A	G15724368A	MYH11;NDE1	NM_002474.3(MYH11):c.4158C>T:p.Thr1386=	coding	Benign/Likely_benign
16	15724453	G	A	G15724453A	MYH11;NDE1	NM_002474.3(MYH11):c.4117-44C>T	coding	Benign
16	15724635	C	T	C15724635T	MYH11;NDE1	NM_002474.3(MYH11):c.4116+12G>A	coding	Benign/Likely_benign
16	15724796	G	A	G15724796A	MYH11;NDE1	NM_002474.3(MYH11):c.3967C>T:p.Leu1323=	coding	Benign
16	15724985	A	G	A15724985G	MYH11;NDE1	NM_002474.3(MYH11):c.3866T>C:p.Val1289Ala	coding	Benign/Likely_benign
16	15725114	C	G	C15725114G	MYH11;NDE1	NM_002474.3(MYH11):c.3859-122G>C	coding	Benign/Likely_benign
16	15725164	A	C	A15725164C	MYH11;NDE1	NM_002474.3(MYH11):c.3859-172T>G	coding	Benign
16	15725198	G	A	G15725198A	MYH11;NDE1	NM_002474.3(MYH11):c.3859-206C>T	coding	Benign
16	15725471	G	A	G15725471A	MYH11;NDE1	NM_002474.3(MYH11):c.3859-479C>T	coding	Benign
16	15725550	A	G	A15725550G	MYH11;NDE1	NM_002474.3(MYH11):c.3859-558T>C	coding	Benign
16	15725640	G	A	G15725640A	MYH11;NDE1	NM_002474.3(MYH11):c.3859-648C>T	coding	Benign
16	15725974	C	T	C15725974T	MYH11;NDE1	NM_002474.3(MYH11):c.3858+874G>A	coding	Benign
16	15726035	A	G	A15726035G	MYH11;NDE1	NM_002474.3(MYH11):c.3858+813T>C	coding	Benign/Likely_benign
16	15726341	T	C	T15726341C	MYH11;NDE1	NM_002474.3(MYH11):c.3858+507A>G	coding	Benign/Likely_benign
16	15726832	C	G	C15726832G	MYH11	NM_002474.3(MYH11):c.3858+16G>C	noncoding	Benign
16	15726878	C	T	C15726878T	MYH11	NM_002474.3(MYH11):c.3828G>A:p.Ala1276=	coding	Benign/Likely_benign
16	15727006	C	T	C15727006T	MYH11;NDE1	NM_002474.3(MYH11):c.3700G>A:p.Ala1234Thr	coding	Benign
16	15727037	G	A	G15727037A	MYH11	NM_002474.3(MYH11):c.3669C>T:p.Asp1223=	coding	Benign/Likely_benign
16	15727060	G	A	G15727060A	MYH11	NM_002474.3(MYH11):c.3652-6C>T	noncoding	Benign/Likely_benign
16	15732527	T	C	T15732527C	MYH11	NM_002474.3(MYH11):c.3651+37A>G	noncoding	Benign
16	15732611	C	T	C15732611T	MYH11	NM_002474.3(MYH11):c.3604G>A:p.Ala1202Thr	coding	Benign/Likely_benign
16	15732684	C	T	C15732684T	MYH11	NM_002474.3(MYH11):c.3531G>A:p.Thr1177=	coding	Benign/Likely_benign
16	15735562	C	T	C15735562T	MYH11	NM_002474.3(MYH11):c.3310G>A:p.Ala1104Thr	coding	Benign
16	15735693	C	T	C15735693T	MYH11	NM_002474.3(MYH11):c.3294-115G>A	noncoding	Benign
16	15737140	C	T	C15737140T	MYH11	NM_002474.3(MYH11):c.3293+309G>A	noncoding	Benign
16	15737159	C	A	C15737159A	MYH11	NM_002474.3(MYH11):c.3293+290G>T	noncoding	Benign
16	15737355	G	A	G15737355A	MYH11	NM_002474.3(MYH11):c.3293+94C>T	noncoding	Benign
16	15737514	C	T	C15737514T	MYH11	NM_002474.3(MYH11):c.3228G>A:p.Ala1076=	coding	Benign/Likely_benign
16	15737546	C	T	C15737546T	MYH11	NM_002474.3(MYH11):c.3196G>A:p.Asp1066Asn	coding	Benign
16	15738584	A	G	A15738584G	MYH11	NM_002474.3(MYH11):c.3102T>C:p.Ser1034=	coding	Benign/Likely_benign
16	15738708	G	C	G15738708C	MYH11	NM_002474.3(MYH11):c.2998-20C>G	noncoding	Benign
16	15739767	A	G	A15739767G	MYH11	NM_002474.3(MYH11):c.2997+284T>C	noncoding	Benign
16	15741589	C	T	C15741589T	MYH11	NM_002474.3(MYH11):c.2733G>A:p.Val911=	coding	Benign/Likely_benign
16	15741675	C	G	C15741675G	MYH11	NM_002474.3(MYH11):c.2653-6G>C	noncoding	Benign/Likely_benign
16	15741675	C	T	C15741675T	MYH11	NM_002474.3(MYH11):c.2653-6G>A	noncoding	Benign/Likely_benign
16	15741763	C	T	C15741763T	MYH11	NM_002474.3(MYH11):c.2649G>A:p.Ser883=	coding	Benign/Likely_benign
16	15741820	G	A	G15741820A	MYH11	NM_002474.3(MYH11):c.2592C>T:p.Thr864=	coding	Benign
16	15741871	C	T	C15741871T	MYH11	NM_002474.3(MYH11):c.2541G>A:p.Val847=	coding	Benign/Likely_benign
16	15741958	G	C	G15741958C	MYH11	NM_002474.3(MYH11):c.2521-67C>G	noncoding	Benign
16	15745083	G	C	G15745083C	MYH11	NM_002474.3(MYH11):c.2520+46C>G	noncoding	Benign
16	15745112	T	C	T15745112C	MYH11	NM_002474.3(MYH11):c.2520+17A>G	noncoding	Benign/Likely_benign
16	15745114	G	C	G15745114C	MYH11	NM_002474.3(MYH11):c.2520+15C>G	noncoding	Benign
16	15745121	G	T	G15745121T	MYH11	NM_002474.3(MYH11):c.2520+8C>A	noncoding	Benign
16	15745177	G	A	G15745177A	MYH11	NM_002474.3(MYH11):c.2472C>T:p.Ala824=	coding	Benign
16	15745246	G	T	G15745246T	MYH11	NM_002474.3(MYH11):c.2412-9C>A	noncoding	Benign/Likely_benign
16	15745471	C	G	C15745471G	MYH11	NM_002474.3(MYH11):c.2412-234G>C	noncoding	Benign
16	15747354	G	A	G15747354A	MYH11	NM_002474.3(MYH11):c.2411+216C>T	noncoding	Benign
16	15747620	G	A	G15747620A	MYH11	NM_002474.3(MYH11):c.2361C>T:p.Thr787=	coding	Benign/Likely_benign
16	15747916	G	A	G15747916A	MYH11	NM_002474.3(MYH11):c.2208C>T:p.Ile736=	coding	Benign
16	15747973	G	A	G15747973A	MYH11	NM_002474.3(MYH11):c.2181-30C>T	noncoding	Benign
16	15747982	G	A	G15747982A	MYH11	NM_002474.3(MYH11):c.2181-39C>T	noncoding	Benign
16	15748061	C	T	C15748061T	MYH11	NM_002474.3(MYH11):c.2166G>A:p.Gln722=	coding	Benign
16	15748092	C	T	C15748092T	MYH11	NM_002474.3(MYH11):c.2135G>A:p.Arg712Gln	coding	Pathogenic/Likely_pathogenic
16	15748148	G	A	G15748148A	MYH11	NM_002474.3(MYH11):c.2079C>T:p.Phe693=	coding	Benign
16	15748166	G	A	G15748166A	MYH11	NM_002474.3(MYH11):c.2061C>T:p.Ser687=	coding	Benign
16	15748434	C	T	C15748434T	MYH11	NM_002474.3(MYH11):c.2059-266G>A	noncoding	Benign
16	15750042	G	A	G15750042A	MYH11	NM_002474.3(MYH11):c.2058+96C>T	noncoding	Benign
16	15750207	C	T	C15750207T	MYH11	NM_002474.3(MYH11):c.1989G>A:p.Lys663=	coding	Benign/Likely_benign
16	15750228	C	T	C15750228T	MYH11	NM_002474.3(MYH11):c.1968G>A:p.Leu656=	coding	Benign/Likely_benign
16	15753410	G	A	G15753410A	MYH11	NM_002474.3(MYH11):c.1848C>T:p.Ala616=	coding	Benign/Likely_benign
16	15756147	T	C	T15756147C	MYH11	NM_002474.3(MYH11):c.1749+194A>G	noncoding	Benign
16	15756347	A	G	A15756347G	MYH11	NM_002474.3(MYH11):c.1743T>C:p.Ala581=	coding	Benign
16	15756421	G	A	G15756421A	MYH11	NM_002474.3(MYH11):c.1669C>T:p.Gln557Ter	coding	Pathogenic
16	15756455	C	G	C15756455G	MYH11	NM_002474.3(MYH11):c.1635G>C:p.Thr545=	coding	Benign
16	15757820	C	T	C15757820T	MYH11	NM_002474.3(MYH11):c.1575+7G>A	noncoding	Benign/Likely_benign
16	15757890	G	A	G15757890A	MYH11	NM_002474.3(MYH11):c.1512C>T:p.Ile504=	coding	Benign/Likely_benign
16	15757968	G	A	G15757968A	MYH11	NM_002474.3(MYH11):c.1434C>T:p.Tyr478=	coding	Benign/Likely_benign
16	15757983	C	T	C15757983T	MYH11	NM_002474.3(MYH11):c.1419G>A:p.Gln473=	coding	Benign/Likely_benign
16	15759739	C	G	C15759739G	MYH11	NM_002474.3(MYH11):c.1249-11G>C	noncoding	Benign
16	15763747	A	C	A15763747C	MYH11	NM_002474.3(MYH11):c.1129+49T>G	noncoding	Benign
16	15763755	A	C	A15763755C	MYH11	NM_002474.3(MYH11):c.1129+41T>G	noncoding	Benign
16	15763925	A	G	A15763925G	MYH11	NM_002474.3(MYH11):c.1034-34T>C	noncoding	Benign
16	15771570	T	C	T15771570C	MYH11	NM_002474.3(MYH11):c.1032A>G:p.Leu344=	coding	Benign/Likely_benign
16	15771615	G	A	G15771615A	MYH11	NM_002474.3(MYH11):c.987C>T:p.Thr329=	coding	Benign/Likely_benign
16	15775944	T	C	T15775944C	MYH11	NM_002474.3(MYH11):c.889+134A>G	noncoding	Benign
16	15776136	G	A	G15776136A	MYH11	NM_002474.3(MYH11):c.831C>T:p.Asp277=	coding	Benign/Likely_benign
16	15776175	A	G	A15776175G	MYH11	NM_002474.3(MYH11):c.792T>C:p.Tyr264=	coding	Benign/Likely_benign
16	15776452	A	G	A15776452G	MYH11	NM_002474.3(MYH11):c.791-276T>C	noncoding	Benign
16	15778613	A	G	A15778613G	MYH11	NM_002474.3(MYH11):c.790+167T>C	noncoding	Benign
16	15778752	A	G	A15778752G	MYH11	NM_002474.3(MYH11):c.790+28T>C	noncoding	Benign
16	15778950	G	A	G15778950A	MYH11	NM_002474.3(MYH11):c.727-107C>T	noncoding	Benign
16	15778972	A	G	A15778972G	MYH11	NM_002474.3(MYH11):c.727-129T>C	noncoding	Benign
16	15782614	T	C	T15782614C	MYH11	NM_002474.3(MYH11):c.634-137A>G	noncoding	Benign
16	15784395	C	T	C15784395T	MYH11	NM_002474.3(MYH11):c.634-1918G>A	noncoding	Benign
16	15784432	G	A	G15784432A	MYH11	NM_002474.3(MYH11):c.634-1955C>T	noncoding	Benign
16	15784688	A	G	A15784688G	MYH11	NM_002474.3(MYH11):c.633+1942T>C	noncoding	Benign/Likely_benign
16	15785047	A	G	A15785047G	MYH11	NM_002474.3(MYH11):c.633+1583T>C	noncoding	Benign
16	15798635	C	A	C15798635A	MYH11	NM_002474.3(MYH11):c.530+25G>T	noncoding	Benign
16	15822964	A	G	A15822964G	MYH11	NM_002474.3(MYH11):c.502+291T>C	noncoding	Benign
16	15823004	A	C	A15823004C	MYH11	NM_002474.3(MYH11):c.502+251T>G	noncoding	Benign
16	15823155	G	A	G15823155A	MYH11	NM_002474.3(MYH11):c.502+100C>T	noncoding	Benign
16	15823304	C	T	C15823304T	MYH11	NM_002474.3(MYH11):c.453G>A:p.Pro151=	coding	Benign/Likely_benign
16	15823313	G	A	G15823313A	MYH11	NM_002474.3(MYH11):c.444C>T:p.His148=	coding	Benign/Likely_benign
16	15823340	G	A	G15823340A	MYH11	NM_002474.3(MYH11):c.417C>T:p.Val139=	coding	Benign
16	15823370	T	C	T15823370C	MYH11	NM_002474.3(MYH11):c.387A>G:p.Lys129=	coding	Benign/Likely_benign
16	15823464	T	C	T15823464C	MYH11	NM_002474.3(MYH11):c.346-53A>G	noncoding	Benign
16	15837953	G	A	G15837953A	MYH11	NM_002474.3(MYH11):c.300C>T:p.Ser100=	coding	Benign/Likely_benign
16	15837962	G	A	G15837962A	MYH11	NM_002474.3(MYH11):c.291C>T:p.Asn97=	coding	Benign/Likely_benign
16	15838118	G	A	G15838118A	MYH11	NM_002474.3(MYH11):c.135C>T:p.Phe45=	coding	Benign
16	15838196	G	A	G15838196A	MYH11	NM_002474.3(MYH11):c.57C>T:p.Asn19=	coding	Benign/Likely_benign
16	15838247	C	T	C15838247T	MYH11	NM_002474.3(MYH11):c.6G>A:p.Ala2=	coding	Benign/Likely_benign
16	15838517	C	T	C15838517T	MYH11	NM_002474.3(MYH11):c.-17-248G>A	noncoding	Benign
16	15857011	C	T	C15857011T	MYH11	NM_002474.3(MYH11):c.-88G>A	noncoding	Benign
16	16045863	G	A	G16045863A	ABCC1	NM_004996.4(ABCC1):c.1068G>A:p.Thr356=	coding	Benign
16	16052719	C	G	C16052719G	ABCC1	NM_004996.4(ABCC1):c.1381-5C>G	noncoding	Benign
16	16068247	A	G	A16068247G	ABCC1	NM_004996.4(ABCC1):c.1769A>G:p.Asn590Ser	coding	Pathogenic
16	16083536	C	T	C16083536T	ABCC1	NM_004996.4(ABCC1):c.2286C>T:p.Gly762=	coding	Benign
16	16090509	G	T	G16090509T	ABCC1	NM_004996.4(ABCC1):c.2565G>T:p.Leu855=	coding	Benign
16	16102637	C	T	C16102637T	ABCC1	NM_004996.4(ABCC1):c.2655C>T:p.Gly885=	coding	Benign
16	16111521	C	T	C16111521T	ABCC1	NM_004996.4(ABCC1):c.3018C>T:p.Asn1006=	coding	Benign
16	16114857	G	A	G16114857A	ABCC1	NM_004996.4(ABCC1):c.3171G>A:p.Leu1057=	coding	Benign
16	16115084	G	A	G16115084A	ABCC1	NM_004996.4(ABCC1):c.3390+8G>A	noncoding	Benign
16	16122020	G	A	G16122020A	ABCC1	NM_004996.4(ABCC1):c.3436G>A:p.Val1146Ile	coding	Benign
16	16125872	C	T	C16125872T	ABCC1	NM_004996.4(ABCC1):c.3780C>T:p.Ala1260=	coding	Benign
16	16125881	G	A	G16125881A	ABCC1	NM_004996.4(ABCC1):c.3789G>A:p.Arg1263=	coding	Benign
16	16136570	C	T	C16136570T	ABCC1	NM_004996.4(ABCC1):c.4218C>T:p.Ala1406=	coding	Benign
16	16138523	C	T	C16138523T	ABCC1	NM_004996.4(ABCC1):c.4452C>T:p.Ile1484=	coding	Benign
16	16150116	C	T	C16150116T	ABCC6	NM_001171.5(ABCC6):c.*17G>A	noncoding	Benign
16	16150144	C	T	C16150144T	ABCC6	NM_001171.5(ABCC6):c.4501G>A:p.Gly1501Ser	coding	Pathogenic
16	16150172	G	A	G16150172A	ABCC6	NM_001171.5(ABCC6):c.4473C>T:p.Gly1491=	coding	Benign
16	16150220	C	T	C16150220T	ABCC6	NM_001171.5(ABCC6):c.4425G>A:p.Gly1475=	coding	Benign
16	16150225	T	A	T16150225A	ABCC6	NM_001171.5(ABCC6):c.4420A>T:p.Lys1474Ter	coding	Pathogenic
16	16150567	G	C	G16150567C	ABCC6	NM_001171.5(ABCC6):c.4403+11C>G	noncoding	Pathogenic
16	16150577	C	A	C16150577A	ABCC6	NM_001171.5(ABCC6):c.4403+1G>T	noncoding	Pathogenic
16	16150600	G	A	G16150600A	ABCC6	NM_001171.5(ABCC6):c.4381C>T:p.Arg1461Cys	coding	Pathogenic
16	16150604	G	A	G16150604A	ABCC6	NM_001171.5(ABCC6):c.4377C>T:p.Arg1459=	coding	Pathogenic
16	16150640	C	T	C16150640T	ABCC6	NM_001171.5(ABCC6):c.4341G>A:p.Trp1447Ter	coding	Pathogenic
16	16150657	C	T	C16150657T	ABCC6	NM_001171.5(ABCC6):c.4324G>A:p.Ala1442Thr	coding	Pathogenic
16	16150676	G	A	G16150676A	ABCC6	NM_001171.5(ABCC6):c.4305C>T:p.Gly1435=	coding	Pathogenic
16	16150710	A	G	A16150710G	ABCC6	NM_001171.5(ABCC6):c.4271T>C:p.Ile1424Thr	coding	Pathogenic
16	16150727	C	T	C16150727T	ABCC6	NM_001171.5(ABCC6):c.4254G>A:p.Arg1418=	coding	Benign
16	16150740	C	T	C16150740T	ABCC6	NM_001171.5(ABCC6):c.4241G>A:p.Arg1414His	coding	Pathogenic
16	16150765	G	T	G16150765T	ABCC6	NM_001171.5(ABCC6):c.4216C>A:p.Gln1406Lys	coding	Pathogenic
16	16150768	C	T	C16150768T	ABCC6	NM_001171.5(ABCC6):c.4213G>A:p.Gly1405Ser	coding	Pathogenic
16	16150772	G	T	G16150772T	ABCC6	NM_001171.5(ABCC6):c.4209C>A:p.Ser1403Arg	coding	Pathogenic
16	16150774	T	G	T16150774G	ABCC6	NM_001171.5(ABCC6):c.4209-2A>C	noncoding	Pathogenic
16	16154619	C	T	C16154619T	ABCC6	NM_001171.5(ABCC6):c.4208+9G>A	noncoding	Benign
16	16154620	G	A	G16154620A	ABCC6	NM_001171.5(ABCC6):c.4208+8C>T	noncoding	Benign
16	16154638	C	T	C16154638T	ABCC6	NM_001171.5(ABCC6):c.4198G>A:p.Glu1400Lys	coding	Pathogenic
16	16154644	G	A	G16154644A	ABCC6	NM_001171.5(ABCC6):c.4192C>T:p.Arg1398Ter	coding	Pathogenic
16	16154647	C	T	C16154647T	ABCC6	NM_001171.5(ABCC6):c.4189G>A:p.Asp1397Asn	coding	Pathogenic
16	16154654	C	T	C16154654T	ABCC6	NM_001171.5(ABCC6):c.4182G>A:p.Lys1394=	coding	Pathogenic
16	16154755	C	T	C16154755T	ABCC6	NM_001171.5(ABCC6):c.4081G>A:p.Asp1361Asn	coding	Pathogenic/Likely_pathogenic
16	16154767	G	A	G16154767A	ABCC6	NM_001171.5(ABCC6):c.4069C>T:p.Arg1357Trp	coding	Benign
16	16154776	C	G	C16154776G	ABCC6	NM_001171.5(ABCC6):c.4060G>C:p.Gly1354Arg	coding	Pathogenic
16	16154788	T	G	T16154788G	ABCC6	NM_001171.5(ABCC6):c.4048A>C:p.Ile1350Leu	coding	Pathogenic
16	16154873	C	G	C16154873G	ABCC6	NM_001171.5(ABCC6):c.4041G>C:p.Gln1347His	coding	Pathogenic
16	16154873	C	T	C16154873T	ABCC6	NM_001171.5(ABCC6):c.4041G>A:p.Gln1347=	coding	Pathogenic
16	16154878	G	A	G16154878A	ABCC6	NM_001171.5(ABCC6):c.4036C>T:p.Pro1346Ser	coding	Pathogenic
16	16154889	A	G	A16154889G	ABCC6	NM_001171.5(ABCC6):c.4025T>C:p.Ile1342Thr	coding	Pathogenic
16	16154898	C	A	C16154898A	ABCC6	NM_001171.5(ABCC6):c.4016G>T:p.Arg1339Leu	coding	Pathogenic
16	16154898	C	T	C16154898T	ABCC6	NM_001171.5(ABCC6):c.4016G>A:p.Arg1339His	coding	Pathogenic/Likely_pathogenic
16	16154899	G	A	G16154899A	ABCC6	NM_001171.5(ABCC6):c.4015C>T:p.Arg1339Cys	coding	Pathogenic
16	16154910	A	G	A16154910G	ABCC6	NM_001171.5(ABCC6):c.4004T>C:p.Leu1335Pro	coding	Pathogenic
16	16154910	A	T	A16154910T	ABCC6	NM_001171.5(ABCC6):c.4004T>A:p.Leu1335Gln	coding	Pathogenic
16	16154915	C	T	C16154915T	ABCC6	NM_001171.5(ABCC6):c.3999G>A:p.Val1333=	coding	Pathogenic
16	16154934	C	T	C16154934T	ABCC6	NM_001171.5(ABCC6):c.3980G>A:p.Gly1327Glu	coding	Benign
16	16154936	G	A	G16154936A	ABCC6	NM_001171.5(ABCC6):c.3978C>T:p.Asp1326=	coding	Benign
16	16154938	C	A	C16154938A	ABCC6	NM_001171.5(ABCC6):c.3976G>T:p.Asp1326Tyr	coding	Pathogenic
16	16154943	C	T	C16154943T	ABCC6	NM_001171.5(ABCC6):c.3971G>A:p.Trp1324Ter	coding	Pathogenic
16	16154953	C	T	C16154953T	ABCC6	NM_001171.5(ABCC6):c.3961G>A:p.Gly1321Ser	coding	Pathogenic
16	16154961	G	C	G16154961C	ABCC6	NM_001171.5(ABCC6):c.3953C>G:p.Ala1318Gly	coding	Pathogenic
16	16154974	G	A	G16154974A	ABCC6	NM_001171.5(ABCC6):c.3940C>T:p.Arg1314Trp	coding	Pathogenic
16	16154982	C	T	C16154982T	ABCC6	NM_001171.5(ABCC6):c.3932G>A:p.Gly1311Glu	coding	Pathogenic
16	16154995	A	G	A16154995G	ABCC6	NM_001171.5(ABCC6):c.3919T>C:p.Ser1307Pro	coding	Pathogenic
16	16155007	C	G	C16155007G	ABCC6	NM_001171.5(ABCC6):c.3907G>C:p.Ala1303Pro	coding	Pathogenic
16	16155010	C	T	C16155010T	ABCC6	NM_001171.5(ABCC6):c.3904G>A:p.Gly1302Arg	coding	Pathogenic
16	16155012	G	A	G16155012A	ABCC6	NM_001171.5(ABCC6):c.3902C>T:p.Thr1301Ile	coding	Pathogenic
16	16155019	C	T	C16155019T	ABCC6	NM_001171.5(ABCC6):c.3895G>A:p.Gly1299Ser	coding	Pathogenic
16	16155022	C	A	C16155022A	ABCC6	NM_001171.5(ABCC6):c.3892G>T:p.Val1298Phe	coding	Pathogenic
16	16155036	C	T	C16155036T	ABCC6	NM_001171.5(ABCC6):c.3883-5G>A	noncoding	Pathogenic
16	16155037	C	T	C16155037T	ABCC6	NM_001171.5(ABCC6):c.3883-6G>A	noncoding	Pathogenic/Likely_pathogenic
16	16155041	G	C	G16155041C	ABCC6	NM_001171.5(ABCC6):c.3883-10C>G	noncoding	Pathogenic
16	16157668	C	T	C16157668T	ABCC6	NM_001171.5(ABCC6):c.3877G>A:p.Glu1293Lys	coding	Pathogenic
16	16157674	C	T	C16157674T	ABCC6	NM_001171.5(ABCC6):c.3871G>A:p.Ala1291Thr	coding	Benign
16	16157693	G	A	G16157693A	ABCC6	NM_001171.5(ABCC6):c.3852C>T:p.Gly1284=	coding	Benign
16	16157722	G	A	G16157722A	ABCC6	NM_001171.5(ABCC6):c.3823C>T:p.Arg1275Ter	coding	Pathogenic
16	16157727	C	T	C16157727T	ABCC6	NM_001171.5(ABCC6):c.3818G>A:p.Arg1273Lys	coding	Pathogenic
16	16157742	C	T	C16157742T	ABCC6	NM_001171.5(ABCC6):c.3803G>A:p.Arg1268Gln	coding	Benign
16	16157755	G	A	G16157755A	ABCC6	NM_001171.5(ABCC6):c.3790C>T:p.Gln1264Ter	coding	Pathogenic
16	16157758	C	T	C16157758T	ABCC6	NM_001171.5(ABCC6):c.3787G>A:p.Gly1263Arg	coding	Pathogenic
16	16157768	C	T	C16157768T	ABCC6	NM_001171.5(ABCC6):c.3777G>A:p.Trp1259Ter	coding	Pathogenic
16	16157810	C	T	C16157810T	ABCC6	NM_001171.5(ABCC6):c.3736-1G>A	coding	Pathogenic
16	16159482	C	A	C16159482A	ABCC6	NM_001171.5(ABCC6):c.3735G>T:p.Glu1245Asp	coding	Pathogenic
16	16159482	C	T	C16159482T	ABCC6	NM_001171.5(ABCC6):c.3735G>A:p.Glu1245=	coding	Pathogenic
16	16159494	C	G	C16159494G	ABCC6	NM_001171.5(ABCC6):c.3723G>C:p.Trp1241Cys	coding	Pathogenic
16	16159495	C	T	C16159495T	ABCC6	NM_001171.5(ABCC6):c.3722G>A:p.Trp1241Ter	coding	Pathogenic
16	16159500	A	C	A16159500C	ABCC6	NM_001171.5(ABCC6):c.3717T>G:p.Tyr1239Ter	coding	Pathogenic
16	16159502	A	G	A16159502G	ABCC6	NM_001171.5(ABCC6):c.3715T>C:p.Tyr1239His	coding	Pathogenic
16	16159505	C	G	C16159505G	ABCC6	NM_001171.5(ABCC6):c.3712G>C:p.Asp1238His	coding	Pathogenic
16	16159508	G	A	G16159508A	ABCC6	NM_001171.5(ABCC6):c.3709C>T:p.Gln1237Ter	coding	Pathogenic
16	16159514	G	A	G16159514A	ABCC6	NM_001171.5(ABCC6):c.3703C>T:p.Arg1235Trp	coding	Pathogenic
16	16159541	G	T	G16159541T	ABCC6	NM_001171.5(ABCC6):c.3676C>A:p.Leu1226Ile	coding	Pathogenic
16	16159549	C	T	C16159549T	ABCC6	NM_001171.5(ABCC6):c.3668G>A:p.Trp1223Ter	coding	Pathogenic
16	16159555	C	T	C16159555T	ABCC6	NM_001171.5(ABCC6):c.3662G>A:p.Arg1221His	coding	Pathogenic
16	16159556	G	A	G16159556A	ABCC6	NM_001171.5(ABCC6):c.3661C>T:p.Arg1221Cys	coding	Pathogenic
16	16159586	G	T	G16159586T	ABCC6	NM_001171.5(ABCC6):c.3634-3C>A	noncoding	Pathogenic
16	16161437	C	T	C16161437T	ABCC6	NM_001171.5(ABCC6):c.3633+1G>A	noncoding	Pathogenic
16	16161463	C	T	C16161463T	ABCC6	NM_001171.5(ABCC6):c.3608G>A:p.Gly1203Asp	coding	Pathogenic
16	16161580	A	G	A16161580G	ABCC6	NM_001171.5(ABCC6):c.3507-16T>C	noncoding	Benign
16	16162978	C	T	C16162978T	ABCC6	NM_001171.5(ABCC6):c.3506+15G>A	noncoding	Pathogenic
16	16163009	G	A	G16163009A	ABCC6	NM_001171.5(ABCC6):c.3490C>T:p.Arg1164Ter	coding	Pathogenic
16	16163024	T	C	T16163024C	ABCC6	NM_001171.5(ABCC6):c.3475A>G:p.Arg1159Gly	coding	Pathogenic
16	16163040	G	A	G16163040A	ABCC6	NM_001171.5(ABCC6):c.3459C>T:p.Arg1153=	coding	Benign
16	16163072	G	A	G16163072A	ABCC6	NM_001171.5(ABCC6):c.3427C>T:p.Gln1143Ter	coding	Pathogenic
16	16163078	G	A	G16163078A	ABCC6	NM_001171.5(ABCC6):c.3421C>T:p.Arg1141Ter	coding	Pathogenic
16	16163086	C	G	C16163086G	ABCC6	NM_001171.5(ABCC6):c.3413G>C:p.Arg1138Pro	coding	Pathogenic
16	16163086	C	T	C16163086T	ABCC6	NM_001171.5(ABCC6):c.3413G>A:p.Arg1138Gln	coding	Pathogenic
16	16163087	G	A	G16163087A	ABCC6	NM_001171.5(ABCC6):c.3412C>T:p.Arg1138Trp	coding	Pathogenic
16	16163101	C	G	C16163101G	ABCC6	NM_001171.5(ABCC6):c.3398G>C:p.Gly1133Ala	coding	Pathogenic/Likely_pathogenic
16	16163102	C	A	C16163102A	ABCC6	NM_001171.5(ABCC6):c.3397G>T:p.Gly1133Cys	coding	Pathogenic
16	16163110	G	A	G16163110A	ABCC6	NM_001171.5(ABCC6):c.3389C>T:p.Thr1130Met	coding	Pathogenic/Likely_pathogenic
16	16163118	C	T	C16163118T	ABCC6	NM_001171.5(ABCC6):c.3381G>A:p.Met1127Ile	coding	Pathogenic
16	16163119	A	G	A16163119G	ABCC6	NM_001171.5(ABCC6):c.3380T>C:p.Met1127Thr	coding	Pathogenic
16	16163129	A	G	A16163129G	ABCC6	NM_001171.5(ABCC6):c.3370T>C:p.Cys1124Arg	coding	Pathogenic
16	16163137	G	A	G16163137A	ABCC6	NM_001171.5(ABCC6):c.3362C>T:p.Ser1121Leu	coding	Pathogenic
16	16163137	G	C	G16163137C	ABCC6	NM_001171.5(ABCC6):c.3362C>G:p.Ser1121Trp	coding	Pathogenic
16	16163158	C	G	C16163158G	ABCC6	NM_001171.5(ABCC6):c.3341G>C:p.Arg1114Pro	coding	Pathogenic
16	16163158	C	T	C16163158T	ABCC6	NM_001171.5(ABCC6):c.3341G>A:p.Arg1114His	coding	Pathogenic
16	16163159	G	A	G16163159A	ABCC6	NM_001171.5(ABCC6):c.3340C>T:p.Arg1114Cys	coding	Pathogenic
16	16165618	C	G	C16165618G	ABCC6	NM_001171.5(ABCC6):c.3306+5G>C	noncoding	Pathogenic
16	16165640	G	T	G16165640T	ABCC6	NM_001171.5(ABCC6):c.3289C>A:p.Leu1097Ile	coding	Benign/Likely_benign
16	16165721	C	G	C16165721G	ABCC6	NM_001171.5(ABCC6):c.3208G>C:p.Ala1070Pro	coding	Pathogenic
16	16165722	G	A	G16165722A	ABCC6	NM_001171.5(ABCC6):c.3207C>T:p.Tyr1069=	coding	Benign
16	16165722	G	T	G16165722T	ABCC6	NM_001171.5(ABCC6):c.3207C>A:p.Tyr1069Ter	coding	Pathogenic
16	16165741	A	C	A16165741C	ABCC6	NM_001171.5(ABCC6):c.3188T>G:p.Leu1063Arg	coding	Pathogenic
16	16165741	A	G	A16165741G	ABCC6	NM_001171.5(ABCC6):c.3188T>C:p.Leu1063Pro	coding	Pathogenic
16	16165761	G	T	G16165761T	ABCC6	NM_001171.5(ABCC6):c.3168C>A:p.Asp1056Glu	coding	Pathogenic
16	16165784	A	C	A16165784C	ABCC6	NM_001171.5(ABCC6):c.3145T>G:p.Ser1049Ala	coding	Pathogenic
16	16165805	C	T	C16165805T	ABCC6	NM_001171.5(ABCC6):c.3124G>A:p.Gly1042Ser	coding	Pathogenic
16	16165810	G	A	G16165810A	ABCC6	NM_001171.5(ABCC6):c.3119C>T:p.Pro1040Leu	coding	Pathogenic
16	16165841	G	A	G16165841A	ABCC6	NM_001171.5(ABCC6):c.3088C>T:p.Arg1030Ter	coding	Pathogenic
16	16165855	A	G	A16165855G	ABCC6	NM_001171.5(ABCC6):c.3074T>C:p.Leu1025Pro	coding	Pathogenic
16	16165865	G	C	G16165865C	ABCC6	NM_001171.5(ABCC6):c.3064C>G:p.Gln1022Glu	coding	Benign
16	16165897	A	G	A16165897G	ABCC6	NM_001171.5(ABCC6):c.3032T>C:p.Leu1011Pro	coding	Pathogenic
16	16169667	C	G	C16169667G	ABCC6	NM_001171.5(ABCC6):c.2974G>C:p.Gly992Arg	coding	Pathogenic
16	16169667	C	T	C16169667T	ABCC6	NM_001171.5(ABCC6):c.2974G>A:p.Gly992Arg	coding	Pathogenic
16	16169698	C	A	C16169698A	ABCC6	NM_001171.5(ABCC6):c.2943G>T:p.Gln981His	coding	Pathogenic
16	16169730	A	G	A16169730G	ABCC6	NM_001171.5(ABCC6):c.2911T>C:p.Trp971Arg	coding	Pathogenic
16	16169737	C	T	C16169737T	ABCC6	NM_001171.5(ABCC6):c.2904G>A:p.Leu968=	coding	Benign
16	16169741	C	T	C16169741T	ABCC6	NM_001171.6(ABCC6):c.2900G>A:p.Trp967Ter	coding	Pathogenic
16	16169750	C	G	C16169750G	ABCC6	NM_001171.5(ABCC6):c.2891G>C:p.Arg964Pro	coding	Pathogenic
16	16169783	A	T	A16169783T	ABCC6	NM_001171.5(ABCC6):c.2858T>A:p.Leu953His	coding	Pathogenic
16	16169786	A	C	A16169786C	ABCC6	NM_001171.5(ABCC6):c.2855T>G:p.Phe952Cys	coding	Pathogenic
16	16169798	A	G	A16169798G	ABCC6	NM_001171.5(ABCC6):c.2843T>C:p.Leu948Pro	coding	Pathogenic
16	16169806	G	A	G16169806A	ABCC6	NM_001171.5(ABCC6):c.2835C>T:p.Pro945=	coding	Benign
16	16169810	G	A	G16169810A	ABCC6	NM_001171.5(ABCC6):c.2831C>T:p.Thr944Ile	coding	Pathogenic
16	16169827	G	C	G16169827C	ABCC6	NM_001171.5(ABCC6):c.2814C>G:p.Tyr938Ter	coding	Pathogenic
16	16169827	G	T	G16169827T	ABCC6	NM_001171.5(ABCC6):c.2814C>A:p.Tyr938Ter	coding	Pathogenic
16	16173283	C	A	C16173283A	ABCC6	NM_001171.5(ABCC6):c.2787+1G>T	noncoding	Pathogenic
16	16173287	G	A	G16173287A	ABCC6	NM_001171.5(ABCC6):c.2784C>T:p.Gly928=	coding	Pathogenic
16	16173290	G	A	G16173290A	ABCC6	NM_001171.5(ABCC6):c.2781C>T:p.Tyr927=	coding	Benign
16	16173364	C	G	C16173364G	ABCC6	NM_001171.5(ABCC6):c.2707G>C:p.Glu903Gln	coding	Benign
16	16173393	G	C	G16173393C	ABCC6	NM_001171.5(ABCC6):c.2678C>G:p.Ser893Ter	coding	Pathogenic
16	16175934	C	A	C16175934A	ABCC6	NM_001171.5(ABCC6):c.2643G>T:p.Arg881Ser	coding	Pathogenic
16	16175946	G	T	G16175946T	ABCC6	NM_001171.5(ABCC6):c.2631C>A:p.Thr877=	coding	Pathogenic
16	16175949	G	T	G16175949T	ABCC6	NM_001171.5(ABCC6):c.2628C>A:p.Gly876=	coding	Benign
16	16177490	A	G	A16177490G	ABCC6	NM_001171.5(ABCC6):c.2552T>C:p.Leu851Pro	coding	Pathogenic
16	16177518	G	A	G16177518A	ABCC6	NM_001171.5(ABCC6):c.2524C>T:p.Gln842Ter	coding	Pathogenic
16	16177531	G	T	G16177531T	ABCC6	NM_001171.5(ABCC6):c.2511C>A:p.Tyr837Ter	coding	Pathogenic
16	16177541	A	G	A16177541G	ABCC6	NM_001171.5(ABCC6):c.2501T>C:p.Met834Thr	coding	Pathogenic
16	16177552	G	A	G16177552A	ABCC6	NM_001171.5(ABCC6):c.2490C>T:p.Ala830=	coding	Benign
16	16177554	C	G	C16177554G	ABCC6	NM_001171.5(ABCC6):c.2488G>C:p.Ala830Pro	coding	Pathogenic
16	16177565	A	G	A16177565G	ABCC6	NM_001171.5(ABCC6):c.2477T>C:p.Leu826Pro	coding	Pathogenic
16	16177584	C	G	C16177584G	ABCC6	NM_001171.5(ABCC6):c.2458G>C:p.Ala820Pro	coding	Pathogenic
16	16177610	G	A	G16177610A	ABCC6	NM_001171.5(ABCC6):c.2432C>T:p.Thr811Met	coding	Pathogenic
16	16177610	G	C	G16177610C	ABCC6	NM_001171.5(ABCC6):c.2432C>G:p.Thr811Arg	coding	Pathogenic
16	16177623	G	A	G16177623A	ABCC6	NM_001171.5(ABCC6):c.2419C>T:p.Arg807Trp	coding	Pathogenic
16	16177623	G	C	G16177623C	ABCC6	NM_001171.5(ABCC6):c.2419C>G:p.Arg807Gly	coding	Pathogenic
16	16178826	A	G	A16178826G	ABCC6	NM_001171.5(ABCC6):c.2387T>C:p.Ile796Thr	coding	Pathogenic
16	16178834	G	C	G16178834C	ABCC6	NM_001171.5(ABCC6):c.2379C>G:p.Asn793Lys	coding	Pathogenic
16	16178854	C	A	C16178854A	ABCC6	NM_001171.5(ABCC6):c.2359G>T:p.Val787Phe	coding	Pathogenic
16	16178871	G	A	G16178871A	ABCC6	NM_001171.5(ABCC6):c.2342C>T:p.Ala781Val	coding	Pathogenic
16	16178884	C	T	C16178884T	ABCC6	NM_001171.5(ABCC6):c.2329G>A:p.Asp777Asn	coding	Pathogenic
16	16178909	G	T	G16178909T	ABCC6	NM_001171.5(ABCC6):c.2304C>A:p.Tyr768Ter	coding	Pathogenic
16	16178916	G	T	G16178916T	ABCC6	NM_001171.5(ABCC6):c.2297C>A:p.Ala766Asp	coding	Pathogenic
16	16178919	C	T	C16178919T	ABCC6	NM_001171.5(ABCC6):c.2294G>A:p.Arg765Gln	coding	Pathogenic
16	16178920	G	A	G16178920A	ABCC6	NM_001171.5(ABCC6):c.2293C>T:p.Arg765Trp	coding	Pathogenic
16	16178934	C	T	C16178934T	ABCC6	NM_001171.5(ABCC6):c.2279G>A:p.Arg760Gln	coding	Pathogenic
16	16178950	C	T	C16178950T	ABCC6	NM_001171.5(ABCC6):c.2263G>A:p.Gly755Arg	coding	Pathogenic
16	16178955	A	G	A16178955G	ABCC6	NM_001171.5(ABCC6):c.2258T>C:p.Leu753Pro	coding	Pathogenic
16	16178961	A	T	A16178961T	ABCC6	NM_001171.5(ABCC6):c.2252T>A:p.Met751Lys	coding	Pathogenic
16	16178965	C	T	C16178965T	ABCC6	NM_001171.5(ABCC6):c.2248G>A:p.Gly750Ser	coding	Pathogenic
16	16182414	G	A	G16182414A	ABCC6	NM_001171.5(ABCC6):c.2245C>T:p.Gln749Ter	coding	Pathogenic
16	16182429	T	G	T16182429G	ABCC6	NM_001171.5(ABCC6):c.2230A>C:p.Thr744Pro	coding	Pathogenic
16	16182435	T	C	T16182435C	ABCC6	NM_001171.5(ABCC6):c.2224A>G:p.Ile742Val	coding	Benign
16	16182482	A	G	A16182482G	ABCC6	NM_001171.5(ABCC6):c.2177T>C:p.Leu726Pro	coding	Pathogenic
16	16182484	T	A	T16182484A	ABCC6	NM_001171.5(ABCC6):c.2175A>T:p.Val725=	coding	Benign
16	16182488	C	T	C16182488T	ABCC6	NM_001171.5(ABCC6):c.2171G>A:p.Arg724Lys	coding	Benign
16	16182497	C	T	C16182497T	ABCC6	NM_001171.5(ABCC6):c.2162G>A:p.Trp721Ter	coding	Pathogenic
16	16182506	T	C	T16182506C	ABCC6	NM_001171.5(ABCC6):c.2153A>G:p.Asp718Gly	coding	Pathogenic
16	16182533	T	C	T16182533C	ABCC6	NM_001171.5(ABCC6):c.2126A>G:p.Glu709Gly	coding	Pathogenic
16	16182534	C	A	C16182534A	ABCC6	NM_001171.5(ABCC6):c.2125G>T:p.Glu709Ter	coding	Pathogenic
16	16182534	C	T	C16182534T	ABCC6	NM_001171.5(ABCC6):c.2125G>A:p.Glu709Lys	coding	Pathogenic
16	16182562	C	A	C16182562A	ABCC6	NM_001171.5(ABCC6):c.2097G>T:p.Glu699Asp	coding	Pathogenic/Likely_pathogenic
16	16182566	T	G	T16182566G	ABCC6	NM_001171.5(ABCC6):c.2093A>C:p.Gln698Pro	coding	Pathogenic
16	16182807	G	A	G16182807A	ABCC6	NM_001171.5(ABCC6):c.2067C>T:p.Ile689=	coding	Benign
16	16182844	A	G	A16182844G	ABCC6	NM_001171.5(ABCC6):c.2030T>C:p.Leu677Pro	coding	Pathogenic
16	16182856	A	G	A16182856G	ABCC6	NM_001171.5(ABCC6):c.2018T>C:p.Leu673Pro	coding	Pathogenic
16	16182878	C	A	C16182878A	ABCC6	NM_001171.5(ABCC6):c.1996G>T:p.Gly666Trp	coding	Pathogenic
16	16182887	C	A	C16182887A	ABCC6	NM_001171.5(ABCC6):c.1987G>T:p.Gly663Cys	coding	Pathogenic
16	16182887	C	T	C16182887T	ABCC6	NM_001171.5(ABCC6):c.1987G>A:p.Gly663Ser	coding	Pathogenic
16	16182910	T	C	T16182910C	ABCC6	NM_001171.5(ABCC6):c.1964A>G:p.Gln655Arg	coding	Pathogenic
16	16182931	C	G	C16182931G	ABCC6	NM_001171.5(ABCC6):c.1944-1G>C	coding	Pathogenic
16	16184949	C	G	C16184949G	ABCC6	NM_001171.5(ABCC6):c.1943+10G>C	noncoding	Benign
16	16185001	G	A	G16185001A	ABCC6	NM_001171.5(ABCC6):c.1901C>T:p.Ala634Val	coding	Pathogenic
16	16185006	G	T	G16185006T	ABCC6	NM_001171.5(ABCC6):c.1896C>A:p.His632Gln	coding	Benign
16	16185012	G	C	G16185012C	ABCC6	NM_001171.5(ABCC6):c.1890C>G:p.Thr630=	coding	Benign
16	16187150	A	G	A16187150G	ABCC6	NM_001171.5(ABCC6):c.1841T>C:p.Val614Ala	coding	Benign
16	16187176	G	A	G16187176A	ABCC6	NM_001171.5(ABCC6):c.1815C>T:p.Leu605=	coding	Benign/Likely_benign
16	16187177	A	G	A16187177G	ABCC6	NM_001171.5(ABCC6):c.1814T>C:p.Leu605Pro	coding	Pathogenic
16	16187192	C	A	C16187192A	ABCC6	NM_001171.5(ABCC6):c.1799G>T:p.Arg600Leu	coding	Pathogenic
16	16187192	C	G	C16187192G	ABCC6	NM_001171.5(ABCC6):c.1799G>C:p.Arg600Pro	coding	Pathogenic
16	16187193	G	A	G16187193A	ABCC6	NM_001171.5(ABCC6):c.1798C>T:p.Arg600Cys	coding	Pathogenic
16	16187210	G	A	G16187210A	ABCC6	NM_001171.5(ABCC6):c.1781C>T:p.Ala594Val	coding	Pathogenic
16	16187213	T	C	T16187213C	ABCC6	NM_001171.5(ABCC6):c.1780-2A>G	noncoding	Pathogenic
16	16188907	A	G	A16188907G	ABCC6	NM_001171.5(ABCC6):c.1703T>C:p.Phe568Ser	coding	Pathogenic
16	16188925	A	G	A16188925G	ABCC6	NM_001171.5(ABCC6):c.1685T>C:p.Met562Thr	coding	Pathogenic
16	16188935	C	A	C16188935A	ABCC6	NM_001171.5(ABCC6):c.1675G>T:p.Glu559Ter	coding	Pathogenic
16	16188958	A	G	A16188958G	ABCC6	NM_001171.5(ABCC6):c.1652T>C:p.Phe551Ser	coding	Pathogenic
16	16188984	G	A	G16188984A	ABCC6	NM_001171.5(ABCC6):c.1636-10C>T	noncoding	Benign
16	16190163	C	A	C16190163A	ABCC6	NM_001171.5(ABCC6):c.1635+1G>T	noncoding	Pathogenic
16	16190196	A	G	A16190196G	ABCC6	NM_001171.5(ABCC6):c.1603T>C:p.Ser535Pro	coding	Pathogenic
16	16190210	A	G	A16190210G	ABCC6	NM_001171.5(ABCC6):c.1589T>C:p.Leu530Pro	coding	Pathogenic
16	16190234	A	G	A16190234G	ABCC6	NM_001171.5(ABCC6):c.1565T>C:p.Leu522Pro	coding	Pathogenic
16	16190236	C	G	C16190236G	ABCC6	NM_001171.5(ABCC6):c.1563G>C:p.Glu521Asp	coding	Pathogenic
16	16190246	C	T	C16190246T	ABCC6	NM_001171.5(ABCC6):c.1553G>A:p.Arg518Gln	coding	Pathogenic
16	16190247	G	A	G16190247A	ABCC6	NM_001171.5(ABCC6):c.1552C>T:p.Arg518Ter	coding	Pathogenic
16	16190259	C	T	C16190259T	ABCC6	NM_001171.5(ABCC6):c.1540G>A:p.Val514Ile	coding	Pathogenic
16	16190280	C	A	C16190280A	ABCC6	NM_001171.5(ABCC6):c.1519G>T:p.Glu507Ter	coding	Pathogenic
16	16190294	T	A	T16190294A	ABCC6	NM_001171.5(ABCC6):c.1505A>T:p.Lys502Met	coding	Pathogenic
16	16190294	T	C	T16190294C	ABCC6	NM_001171.6(ABCC6):c.1505A>G:p.Lys502Arg	coding	Pathogenic
16	16190301	T	G	T16190301G	ABCC6	NM_001171.5(ABCC6):c.1498A>C:p.Thr500Pro	coding	Pathogenic
16	16190315	A	T	A16190315T	ABCC6	NM_001171.5(ABCC6):c.1484T>A:p.Leu495His	coding	Pathogenic
16	16190334	G	A	G16190334A	ABCC6	NM_001171.5(ABCC6):c.1465C>T:p.Arg489Trp	coding	Pathogenic
16	16190339	C	T	C16190339T	ABCC6	NM_001171.5(ABCC6):c.1460G>A:p.Arg487Gln	coding	Pathogenic
16	16190389	G	T	G16190389T	ABCC6	NM_001171.5(ABCC6):c.1432-22C>A	noncoding	Pathogenic
16	16192865	T	A	T16192865A	ABCC6	NM_001171.5(ABCC6):c.1396A>T:p.Asn466Tyr	coding	Pathogenic
16	16192873	A	T	A16192873T	ABCC6	NM_001171.5(ABCC6):c.1388T>A:p.Leu463His	coding	Pathogenic
16	16192898	C	G	C16192898G	ABCC6	NM_001171.5(ABCC6):c.1363G>C:p.Ala455Pro	coding	Pathogenic
16	16192917	C	T	C16192917T	ABCC6	NM_001171.5(ABCC6):c.1344G>A:p.Leu448=	coding	Benign
16	16192924	T	C	T16192924C	ABCC6	NM_001171.6(ABCC6):c.1339-2A>G	noncoding	Pathogenic
16	16198001	G	C	G16198001C	ABCC6	NM_001171.5(ABCC6):c.1338+20C>G	noncoding	Benign
16	16198014	G	C	G16198014C	ABCC6	NM_001171.5(ABCC6):c.1338+7C>G	noncoding	Benign
16	16198041	A	C	A16198041C	ABCC6	NM_001171.5(ABCC6):c.1318T>G:p.Cys440Gly	coding	Pathogenic
16	16198075	G	A	G16198075A	ABCC6	NM_001171.5(ABCC6):c.1284C>T:p.Asn428=	coding	Benign/Likely_benign
16	16198101	G	C	G16198101C	ABCC6	NM_001171.5(ABCC6):c.1258C>G:p.Leu420Val	coding	Pathogenic
16	16198103	C	T	C16198103T	ABCC6	NM_001171.5(ABCC6):c.1256G>A:p.Arg419Gln	coding	Pathogenic
16	16198111	G	A	G16198111A	ABCC6	NM_001171.5(ABCC6):c.1248C>T:p.Asp416=	coding	Benign/Likely_benign
16	16198114	C	T	C16198114T	ABCC6	NM_001171.5(ABCC6):c.1245G>A:p.Val415=	coding	Benign
16	16198115	A	G	A16198115G	ABCC6	NM_001171.5(ABCC6):c.1244T>C:p.Val415Ala	coding	Pathogenic
16	16198126	A	C	A16198126C	ABCC6	NM_001171.5(ABCC6):c.1233T>G:p.Asn411Lys	coding	Benign
16	16198160	G	A	G16198160A	ABCC6	NM_001171.5(ABCC6):c.1199C>T:p.Ser400Phe	coding	Pathogenic
16	16198165	G	C	G16198165C	ABCC6	NM_001171.5(ABCC6):c.1194C>G:p.Ser398Arg	coding	Pathogenic
16	16198167	T	C	T16198167C	ABCC6	NM_001171.5(ABCC6):c.1192A>G:p.Ser398Gly	coding	Pathogenic
16	16201995	G	A	G16201995A	ABCC6	NM_001171.5(ABCC6):c.1176+6C>T	noncoding	Pathogenic
16	16202001	C	G	C16202001G	ABCC6	NM_001171.5(ABCC6):c.1176G>C:p.Lys392Asn	coding	Pathogenic
16	16202033	G	A	G16202033A	ABCC6	NM_001171.5(ABCC6):c.1144C>T:p.Arg382Trp	coding	Pathogenic
16	16202044	T	G	T16202044G	ABCC6	NM_001171.5(ABCC6):c.1133A>C:p.Gln378Pro	coding	Pathogenic
16	16202045	G	A	G16202045A	ABCC6	NM_001171.5(ABCC6):c.1132C>T:p.Gln378Ter	coding	Pathogenic
16	16202086	G	C	G16202086C	ABCC6	NM_001171.5(ABCC6):c.1091C>G:p.Thr364Arg	coding	Pathogenic
16	16202090	G	A	G16202090A	ABCC6	NM_001171.5(ABCC6):c.1087C>T:p.Gln363Ter	coding	Pathogenic
16	16202100	T	C	T16202100C	ABCC6	NM_001171.5(ABCC6):c.1077A>G:p.Ser359=	coding	Benign
16	16202113	A	C	A16202113C	ABCC6	NM_001171.5(ABCC6):c.1064T>G:p.Leu355Arg	coding	Pathogenic
16	16202118	G	A	G16202118A	ABCC6	NM_001171.5(ABCC6):c.1059C>T:p.Ala353=	coding	Benign
16	16203415	C	A	C16203415A	ABCC6	NM_001171.5(ABCC6):c.993G>T:p.Leu331=	coding	Benign
16	16203457	G	C	G16203457C	ABCC6	NM_001171.5(ABCC6):c.951C>G:p.Ser317Arg	coding	Pathogenic
16	16203457	G	T	G16203457T	ABCC6	NM_001171.5(ABCC6):c.951C>A:p.Ser317Arg	coding	Pathogenic
16	16208756	A	G	A16208756G	ABCC6	NM_001171.5(ABCC6):c.766T>C:p.Trp256Arg	coding	Pathogenic
16	16208798	C	A	C16208798A	ABCC6	NM_001171.5(ABCC6):c.724G>T:p.Glu242Ter	coding	Pathogenic
16	16208809	G	T	G16208809T	ABCC6	NM_001171.5(ABCC6):c.713C>A:p.Ser238Ter	coding	Pathogenic
16	16208841	G	C	G16208841C	ABCC6	NM_001171.5(ABCC6):c.681C>G:p.Tyr227Ter	coding	Pathogenic
16	16208846	C	T	C16208846T	ABCC6	NM_001171.5(ABCC6):c.676G>A:p.Gly226Arg	coding	Pathogenic
16	16212193	C	A	C16212193A	ABCC6	NM_001171.5(ABCC6):c.654G>T:p.Trp218Cys	coding	Pathogenic
16	16212202	C	T	C16212202T	ABCC6	NM_001171.5(ABCC6):c.645G>A:p.Thr215=	coding	Benign
16	16212228	C	T	C16212228T	ABCC6	NM_001171.5(ABCC6):c.619G>A:p.Gly207Arg	coding	Pathogenic
16	16212248	T	C	T16212248C	ABCC6	NM_001171.5(ABCC6):c.601-2A>G	noncoding	Pathogenic
16	16214323	C	T	C16214323T	ABCC6	NM_001171.5(ABCC6):c.600+1G>A	noncoding	Pathogenic
16	16214329	G	A	G16214329A	ABCC6	NM_001171.5(ABCC6):c.595C>T:p.Gln199Ter	coding	Pathogenic
16	16214375	C	T	C16214375T	ABCC6	NM_001171.5(ABCC6):c.549G>A:p.Leu183=	coding	Pathogenic
16	16214437	C	T	C16214437T	ABCC6	NM_001171.5(ABCC6):c.487G>A:p.Asp163Asn	coding	Benign
16	16219555	G	A	G16219555A	ABCC6	NM_001171.5(ABCC6):c.473C>T:p.Ala158Val	coding	Pathogenic
16	16219642	C	T	C16219642T	ABCC6	NM_001171.5(ABCC6):c.386G>A:p.Gly129Glu	coding	Pathogenic
16	16219655	C	A	C16219655A	ABCC6	NM_001171.5(ABCC6):c.373G>T:p.Glu125Ter	coding	Pathogenic
16	16219655	C	T	C16219655T	ABCC6	NM_001171.5(ABCC6):c.373G>A:p.Glu125Lys	coding	Pathogenic
16	16219796	G	A	G16219796A	ABCC6	NM_001171.5(ABCC6):c.345+26C>T	noncoding	Benign
16	16219834	C	T	C16219834T	ABCC6	NM_001171.5(ABCC6):c.333G>A:p.Trp111Ter	coding	Pathogenic
16	16219899	C	T	C16219899T	ABCC6	NM_001171.5(ABCC6):c.268G>A:p.Ala90Thr	coding	Pathogenic
16	16219935	C	T	C16219935T	ABCC6	NM_001171.5(ABCC6):c.232G>A:p.Ala78Thr	coding	Pathogenic
16	16219948	C	G	C16219948G	ABCC6	NM_001171.5(ABCC6):c.220-1G>C	coding	Pathogenic
16	16221677	C	T	C16221677T	ABCC6	NM_001171.5(ABCC6):c.191G>A:p.Arg64Gln	coding	Pathogenic
16	16221686	C	T	C16221686T	ABCC6	NM_001171.5(ABCC6):c.182G>A:p.Gly61Asp	coding	Pathogenic
16	16221738	G	C	G16221738C	ABCC6	NM_001171.5(ABCC6):c.130C>G:p.Leu44Val	coding	Pathogenic
16	16221750	G	A	G16221750A	ABCC6	NM_001171.5(ABCC6):c.118C>T:p.Pro40Ser	coding	Pathogenic
16	16221755	C	G	C16221755G	ABCC6	NM_001171.5(ABCC6):c.113G>C:p.Trp38Ser	coding	Pathogenic
16	16221807	G	A	G16221807A	ABCC6	NM_001171.5(ABCC6):c.61C>T:p.Pro21Ser	coding	Pathogenic
16	16221822	G	A	G16221822A	ABCC6	NM_001171.5(ABCC6):c.46C>T:p.Gln16Ter	coding	Pathogenic
16	16221832	C	T	C16221832T	ABCC6	NM_001171.5(ABCC6):c.37-1G>A	coding	Pathogenic
16	16223398	C	A	C16223398A	ABCC6	NM_001171.5(ABCC6):c.36+1G>T	noncoding	Pathogenic
16	16223409	G	T	G16223409T	ABCC6	NM_001171.5(ABCC6):c.26C>A:p.Ala9Glu	coding	Pathogenic
16	16223424	G	T	G16223424T	ABCC6	NM_001171.5(ABCC6):c.11C>A:p.Pro4His	coding	Pathogenic
16	17108919	C	A	C17108919A	XYLT1	NM_022166.4(XYLT1):c.2656G>T:p.Ala886Ser	coding	Benign
16	17108920	G	A	G17108920A	XYLT1	NM_022166.4(XYLT1):c.2655C>T:p.Pro885=	coding	Benign
16	17117833	G	T	G17117833T	XYLT1	NM_022166.4(XYLT1):c.2370C>A:p.Val790=	coding	Benign
16	17117977	G	A	G17117977A	XYLT1	NM_022166.4(XYLT1):c.2226C>T:p.Val742=	coding	Benign
16	17134582	C	T	C17134582T	XYLT1	NM_022166.4(XYLT1):c.1918G>A:p.Gly640Ser	coding	Benign
16	17138376	C	T	C17138376T	XYLT1	NM_022166.4(XYLT1):c.1743G>A:p.Pro581=	coding	Benign
16	17138493	G	A	G17138493A	XYLT1	NM_022166.4(XYLT1):c.1626C>T:p.Cys542=	coding	Benign
16	17141299	G	A	G17141299A	XYLT1	NM_022166.4(XYLT1):c.1441C>T:p.Arg481Trp	coding	Pathogenic
16	17158878	G	A	G17158878A	XYLT1	NM_022166.4(XYLT1):c.1321C>T:p.Arg441Ter	coding	Pathogenic
16	17158910	C	T	C17158910T	XYLT1	NM_022166.4(XYLT1):c.1290-1G>A	coding	Pathogenic
16	17158911	T	G	T17158911G	XYLT1	NM_022166.4(XYLT1):c.1290-2A>C	noncoding	Pathogenic
16	17198229	C	T	C17198229T	XYLT1	NM_022166.4(XYLT1):c.1272G>A:p.Ala424=	coding	Benign
16	17259295	T	C	T17259295C	XYLT1	NM_022166.4(XYLT1):c.606A>G:p.Lys202=	coding	Benign
16	17259462	G	A	G17259462A	XYLT1	NM_022166.4(XYLT1):c.439C>T:p.Arg147Ter	coding	Pathogenic
16	17470454	C	A	C17470454A	XYLT1	NM_022166.4(XYLT1):c.343G>T:p.Ala115Ser	coding	Benign
16	17470478	C	A	C17470478A	XYLT1	NM_022166.4(XYLT1):c.319G>T:p.Gly107Ter	coding	Pathogenic
16	18788063	C	T	C18788063T	RPS15A	NM_001019.5(RPS15A):c.213G>A:p.Lys71=	coding	Pathogenic
16	18795526	G	A	G18795526A	ARL6IP1	NM_015161.3(ARL6IP1):c.346C>T:p.Arg116Ter	coding	Pathogenic
16	18798011	G	A	G18798011A	ARL6IP1	NM_015161.3(ARL6IP1):c.204C>T:p.Ser68=	coding	Benign
16	18801438	T	C	T18801438C	ARL6IP1	NM_015161.3(ARL6IP1):c.29A>G:p.Asn10Ser	coding	Benign
16	18863720	C	A	C18863720A	SMG1	NM_015092.5(SMG1):c.3625G>T:p.Ala1209Ser	coding	Benign
16	18869141	T	C	T18869141C	SMG1	NM_015092.5(SMG1):c.2796A>G:p.Pro932=	coding	Benign
16	18872265	G	A	G18872265A	SMG1	NM_015092.5(SMG1):c.2102C>T:p.Thr701Met	coding	Benign
16	18882258	T	C	T18882258C	SMG1	NM_015092.5(SMG1):c.1200A>G:p.Ala400=	coding	Benign
16	18926008	T	C	T18926008C	SMG1	NM_015092.5(SMG1):c.34A>G:p.Ser12Gly	coding	Benign
16	19040419	G	A	G19040419A	TMC7	NM_024847.4(TMC7):c.1310G>A:p.Gly437Asp	coding	Benign
16	19045446	C	T	C19045446T	TMC7	NM_024847.4(TMC7):c.1553+8C>T	noncoding	Benign
16	19067308	A	T	A19067308T	COQ7	NC_000016.10:g.19067308A>T	noncoding	Benign
16	19067715	G	A	G19067715A	COQ7	NM_016138.5(COQ7):c.51G>A:p.Pro17=	coding	Benign
16	19067773	T	G	T19067773G	COQ7	NM_016138.5(COQ7):c.73+36T>G	noncoding	Benign
16	19067848	C	A	C19067848A	COQ7	NM_016138.5(COQ7):c.73+111C>A	noncoding	Benign
16	19071713	G	A	G19071713A	COQ7	NM_016138.5(COQ7):c.74-215G>A	noncoding	Benign
16	19071899	A	G	A19071899G	COQ7	NM_016138.5(COQ7):c.74-29A>G	noncoding	Benign
16	19071978	G	C	G19071978C	COQ7	NM_016138.5(COQ7):c.124G>C:p.Asp42His	coding	Benign
16	19071990	C	T	C19071990T	COQ7	NM_016138.5(COQ7):c.136C>T:p.Arg46Trp	coding	Benign/Likely_benign
16	19072088	C	T	C19072088T	COQ7	NM_016138.5(COQ7):c.234C>T:p.Ser78=	coding	Benign
16	19072227	C	T	C19072227T	COQ7	NM_016138.5(COQ7):c.252+121C>T	noncoding	Benign
16	19073976	C	T	C19073976T	COQ7	NM_016138.5(COQ7):c.308C>T:p.Thr103Met	coding	Benign
16	19074039	C	T	C19074039T	COQ7	NM_016138.5(COQ7):c.367+4C>T	noncoding	Benign/Likely_benign
16	19075775	T	A	T19075775A	COQ7	NM_016138.5(COQ7):c.422T>A:p.Val141Glu	coding	Pathogenic
16	19075845	C	T	C19075845T	COQ7	NM_016138.5(COQ7):c.492C>T:p.Tyr164=	coding	Benign
16	19298815	C	T	C19298815T	CLEC19A	NM_001256720.2(CLEC19A):c.231C>T:p.Ser77=	coding	Benign
16	19521872	G	C	G19521872C	GDE1	NM_016641.4(GDE1):c.93C>G:p.Ala31=	coding	Benign
16	19536035	A	G	A19536035G	CCP110	NM_014711.6(CCP110):c.366A>G:p.Thr122=	coding	Benign
16	19536181	C	T	C19536181T	CCP110	NM_014711.6(CCP110):c.512C>T:p.Pro171Leu	coding	Benign
16	19536425	C	G	C19536425G	CCP110	NM_014711.6(CCP110):c.756C>G:p.Ile252Met	coding	Benign
16	19536794	G	A	G19536794A	CCP110	NM_014711.6(CCP110):c.1125G>A:p.Met375Ile	coding	Benign
16	19536968	G	A	G19536968A	CCP110	NM_014711.6(CCP110):c.1299G>A:p.Ala433=	coding	Benign
16	19537348	C	T	C19537348T	CCP110	NM_001199022.3(CCP110):c.1679C>T:p.Thr560Met	coding	Benign
16	19537418	A	G	A19537418G	CCP110	NM_014711.6(CCP110):c.1749A>G:p.Lys583=	coding	Benign
16	19542057	T	C	T19542057C	CCP110	NM_001199022.3(CCP110):c.2220T>C:p.Asn740=	coding	Benign
16	19544847	A	G	A19544847G	CCP110	NM_001199022.3(CCP110):c.2535A>G:p.Arg845=	coding	Benign
16	19718307	A	C	A19718307C	IQCK	NM_153208.2(IQCK):c.1A>C:p.Met1Leu	coding	Benign
16	19861855	G	A	G19861855A	GPRC5B	NM_016235.3(GPRC5B):c.1149C>T:p.Val383=	coding	Benign
16	19872407	C	T	C19872407T	GPRC5B	NM_016235.3(GPRC5B):c.439G>A:p.Val147Met	coding	Benign
16	19872669	C	T	C19872669T	GPRC5B	NM_016235.3(GPRC5B):c.177G>A:p.Val59=	coding	Benign
16	19885536	T	A	T19885536A	GPRC5B	NM_001304771.1(GPRC5B):c.59A>T:p.Asp20Val	coding	Benign
16	20311280	C	A	C20311280A	GP2	NM_001502.4(GP2):c.1548G>T:p.Gly516=	coding	Benign
16	20315999	G	A	G20315999A	GP2	NM_001502.4(GP2):c.1458C>T:p.Ile486=	coding	Benign
16	20324039	C	T	C20324039T	GP2	NM_001502.4(GP2):c.312G>A:p.Ser104=	coding	Benign
16	20333184	G	A	G20333184A	UMOD	NM_003361.3(UMOD):c.*130C>T	noncoding	Benign
16	20333210	G	A	G20333210A	UMOD	NM_003361.3(UMOD):c.*104C>T	noncoding	Benign
16	20336714	G	A	G20336714A	UMOD	NM_003361.3(UMOD):c.1754C>T:p.Thr585Ile	coding	Benign
16	20336726	G	T	G20336726T	UMOD	NM_003361.3(UMOD):c.1742C>A:p.Thr581Asn	coding	Benign
16	20337253	G	A	G20337253A	UMOD	NM_003361.3(UMOD):c.1740+38C>T	noncoding	Benign
16	20337408	C	A	C20337408A	UMOD	NM_003361.3(UMOD):c.1623G>T:p.Gly541=	coding	Benign
16	20341168	T	C	T20341168C	UMOD	NM_003361.3(UMOD):c.1500A>G:p.Ala500=	coding	Benign/Likely_benign
16	20341204	G	A	G20341204A	UMOD	NM_003361.3(UMOD):c.1464C>T:p.Gly488=	coding	Benign
16	20341210	G	A	G20341210A	UMOD	NM_003361.3(UMOD):c.1458C>T:p.Tyr486=	coding	Benign
16	20341292	C	T	C20341292T	UMOD	NM_003361.3(UMOD):c.1376G>A:p.Arg459Gln	coding	Benign
16	20341293	G	A	G20341293A	UMOD	NM_003361.3(UMOD):c.1375C>T:p.Arg459Trp	coding	Benign/Likely_benign
16	20341296	C	A	C20341296A	UMOD	NM_003361.3(UMOD):c.1372G>T:p.Val458Leu	coding	Benign
16	20341315	G	C	G20341315C	UMOD	NM_003361.3(UMOD):c.1353C>G:p.Gly451=	coding	Benign
16	20344067	C	T	C20344067T	UMOD	NM_003361.4(UMOD):c.1288G>A:p.Asp430Asn	coding	Benign
16	20346131	A	G	A20346131G	UMOD	NM_003361.3(UMOD):c.1177T>C:p.Leu393=	coding	Benign
16	20346184	C	T	C20346184T	UMOD	NM_003361.3(UMOD):c.1124G>A:p.Arg375Gln	coding	Benign
16	20346246	G	A	G20346246A	UMOD	NM_003361.3(UMOD):c.1062C>T:p.Phe354=	coding	Benign/Likely_benign
16	20346349	G	C	G20346349C	UMOD	NM_003361.3(UMOD):c.974-15C>G	noncoding	Benign
16	20348216	G	A	G20348216A	UMOD	NM_003361.4(UMOD):c.973+7C>T	noncoding	Benign
16	20348249	T	G	T20348249G	UMOD	NM_003361.3(UMOD):c.947A>C:p.Gln316Pro	coding	Pathogenic
16	20348252	C	T	C20348252T	UMOD	NM_003361.3(UMOD):c.944G>A:p.Cys315Tyr	coding	Pathogenic
16	20348253	A	G	A20348253G	UMOD	NM_003361.3(UMOD):c.943T>C:p.Cys315Arg	coding	Pathogenic
16	20348298	A	C	A20348298C	UMOD	NM_003361.3(UMOD):c.898T>G:p.Cys300Gly	coding	Pathogenic
16	20348306	C	T	C20348306T	UMOD	NM_003361.3(UMOD):c.890G>A:p.Cys297Tyr	coding	Pathogenic
16	20348311	C	T	C20348311T	UMOD	NM_003361.3(UMOD):c.885G>A:p.Gly295=	coding	Benign
16	20348461	G	A	G20348461A	UMOD	NM_003361.3(UMOD):c.840C>T:p.Pro280=	coding	Benign
16	20348484	C	A	C20348484A	UMOD	NM_003361.3(UMOD):c.817G>T:p.Val273Phe	coding	Pathogenic
16	20348509	C	T	C20348509T	UMOD	NM_003361.3(UMOD):c.792G>A:p.Val264=	coding	Benign
16	20348537	C	T	C20348537T	UMOD	NM_003361.3(UMOD):c.764G>A:p.Cys255Tyr	coding	Pathogenic
16	20348557	G	C	G20348557C	UMOD	NM_003361.3(UMOD):c.744C>G:p.Cys248Trp	coding	Pathogenic
16	20348558	C	G	C20348558G	UMOD	NM_003361.3(UMOD):c.743G>C:p.Cys248Ser	coding	Pathogenic
16	20348594	G	A	G20348594A	UMOD	NM_003361.3(UMOD):c.707C>T:p.Pro236Leu	coding	Pathogenic/Likely_pathogenic
16	20348650	G	C	G20348650C	UMOD	NM_003361.3(UMOD):c.651C>G:p.Cys217Trp	coding	Pathogenic
16	20348652	A	C	A20348652C	UMOD	NM_003361.3(UMOD):c.649T>G:p.Cys217Gly	coding	Pathogenic
16	20348652	A	G	A20348652G	UMOD	NM_003361.3(UMOD):c.649T>C:p.Cys217Arg	coding	Pathogenic
16	20348691	G	C	G20348691C	UMOD	NM_003361.3(UMOD):c.610C>G:p.Arg204Gly	coding	Pathogenic
16	20348748	G	A	G20348748A	UMOD	NM_003361.3(UMOD):c.553C>T:p.Arg185Cys	coding	Pathogenic
16	20348763	G	C	G20348763C	UMOD	NM_003361.3(UMOD):c.538C>G:p.Leu180Val	coding	Benign
16	20348779	G	A	G20348779A	UMOD	NM_003361.3(UMOD):c.522C>T:p.Cys174=	coding	Benign
16	20348811	C	A	C20348811A	UMOD	NM_001278614.2(UMOD):c.589G>T:p.Glu197Ter	coding	Pathogenic
16	20348858	C	T	C20348858T	UMOD	NM_003361.3(UMOD):c.443G>A:p.Cys148Tyr	coding	Pathogenic
16	20348876	C	T	C20348876T	UMOD	NM_003361.3(UMOD):c.425G>A:p.Arg142Gln	coding	Benign
16	20348909	C	T	C20348909T	UMOD	NM_003361.4(UMOD):c.392G>A:p.Gly131Asp	coding	Benign
16	20348918	T	C	T20348918C	UMOD	NM_003361.3(UMOD):c.383A>G:p.Asn128Ser	coding	Pathogenic
16	20348925	A	G	A20348925G	UMOD	NM_003361.3(UMOD):c.376T>C:p.Cys126Arg	coding	Pathogenic
16	20348943	A	C	A20348943C	UMOD	NM_003361.3(UMOD):c.358T>G:p.Cys120Gly	coding	Pathogenic
16	20348968	C	T	C20348968T	UMOD	NM_003361.3(UMOD):c.333G>A:p.Glu111=	coding	Benign
16	20348984	C	T	C20348984T	UMOD	NM_003361.3(UMOD):c.317G>A:p.Cys106Tyr	coding	Pathogenic
16	20348994	C	A	C20348994A	UMOD	NM_003361.3(UMOD):c.307G>T:p.Gly103Cys	coding	Pathogenic
16	20349037	G	A	G20349037A	UMOD	NM_003361.3(UMOD):c.264C>T:p.Gly88=	coding	Benign
16	20349071	C	T	C20349071T	UMOD	NM_003361.3(UMOD):c.230G>A:p.Cys77Tyr	coding	Pathogenic
16	20350784	A	G	A20350784G	UMOD	NM_003361.3(UMOD):c.-47T>C	noncoding	Benign
16	20350793	C	T	C20350793T	UMOD	NM_003361.3(UMOD):c.-56G>A	noncoding	Benign
16	20352745	C	T	C20352745T	UMOD	NC_000016.10:g.20352745C>T	noncoding	Benign
16	20427877	G	A	G20427877A	ACSM5	NM_017888.3(ACSM5):c.1001+10G>A	noncoding	Benign
16	20429755	A	G	A20429755G	ACSM5	NM_017888.3(ACSM5):c.1079A>G:p.His360Arg	coding	Benign
16	20460186	C	G	C20460186G	ACSM2A	NM_001308172.2(ACSM2A):c.72C>G:p.Tyr24Ter	coding	Benign
16	20480826	C	T	C20480826T	ACSM2A	NM_001308172.2(ACSM2A):c.1414C>T:p.Arg472Trp	coding	Benign
16	20548432	A	G	A20548432G	ACSM2B	NM_001105069.2(ACSM2B):c.936T>C:p.Pro312=	coding	Benign
16	20548455	T	C	T20548455C	ACSM2B	NM_001105069.2(ACSM2B):c.913A>G:p.Ile305Val	coding	Benign
16	20552222	T	G	T20552222G	ACSM2B	NM_001105069.2(ACSM2B):c.816A>C:p.Ser272=	coding	Benign
16	20669966	T	C	T20669966C	ACSM1	NM_001318890.1(ACSM1):c.773A>G:p.Lys258Arg	coding	Benign
16	20690988	A	T	A20690988T	ACSM1	NM_001318890.1(ACSM1):c.192+9T>A	noncoding	Benign
16	20915676	C	T	C20915676T	LYRM1	NM_001128302.3(LYRM1):c.121C>T:p.Leu41=	coding	Benign
16	20933391	G	A	G20933391A	DNAH3	NM_017539.2(DNAH3):c.12114C>T:p.Leu4038=	coding	Benign
16	20935342	C	T	C20935342T	DNAH3	NM_017539.2(DNAH3):c.11997+6G>A	noncoding	Benign
16	20952443	G	C	G20952443C	DNAH3	NM_017539.2(DNAH3):c.11178C>G:p.Thr3726=	coding	Benign
16	20952510	C	T	C20952510T	DNAH3	NM_017539.2(DNAH3):c.11111G>A:p.Arg3704Lys	coding	Benign
16	20963369	C	T	C20963369T	DNAH3	NM_017539.2(DNAH3):c.10515G>A:p.Thr3505=	coding	Benign
16	20969904	G	C	G20969904C	DNAH3	NM_017539.2(DNAH3):c.8346C>G:p.Ile2782Met	coding	Benign
16	20985119	A	C	A20985119C	DNAH3	NM_017539.2(DNAH3):c.7623T>G:p.Val2541=	coding	Benign
16	20985546	A	T	A20985546T	DNAH3	NM_017539.2(DNAH3):c.7196T>A:p.Ile2399Asn	coding	Benign
16	20985659	G	C	G20985659C	DNAH3	NM_017539.2(DNAH3):c.7083C>G:p.Leu2361=	coding	Benign
16	20997368	T	C	T20997368C	DNAH3	NM_017539.2(DNAH3):c.6516A>G:p.Lys2172=	coding	Benign
16	21019643	G	A	G21019643A	DNAH3	NM_017539.2(DNAH3):c.6003C>T:p.Asn2001=	coding	Benign
16	21031069	G	A	G21031069A	DNAH3	NM_017539.2(DNAH3):c.5415C>T:p.Asn1805=	coding	Benign
16	21039887	G	C	G21039887C	DNAH3	NM_017539.2(DNAH3):c.4695C>G:p.Ile1565Met	coding	Benign
16	21067372	T	A	T21067372A	DNAH3	NM_017539.2(DNAH3):c.3429A>T:p.Ala1143=	coding	Benign
16	21067372	T	G	T21067372G	DNAH3	NM_017539.2(DNAH3):c.3429A>C:p.Ala1143=	coding	Benign
16	21140584	C	T	C21140584T	DNAH3	NM_017539.2(DNAH3):c.648G>A:p.Glu216=	coding	Benign
16	21145976	G	A	G21145976A	DNAH3	NM_017539.2(DNAH3):c.222+8C>T	noncoding	Benign
16	21146085	C	T	C21146085T	DNAH3	NM_017539.2(DNAH3):c.121G>A:p.Ala41Thr	coding	Benign
16	21198771	G	A	G21198771A	ZP2	NM_001376232.1(ZP2):c.2011+8C>T	noncoding	Benign
16	21199880	T	C	T21199880C	ZP2	NM_003460.2(ZP2):c.1695-2A>G	noncoding	Pathogenic
16	21201527	G	A	G21201527A	ZP2	NM_001376232.1(ZP2):c.1536C>T:p.Asn512=	coding	Benign
16	21202276	C	G	C21202276G	ZP2	NM_003460.2(ZP2):c.1115G>C:p.Cys372Ser	coding	Pathogenic
16	21205764	T	G	T21205764G	ZP2	NM_001376232.1(ZP2):c.495A>C:p.Pro165=	coding	Benign
16	21206861	T	C	T21206861C	ZP2	NM_001376232.1(ZP2):c.460A>G:p.Ile154Val	coding	Benign
16	21258781	T	A	T21258781A	CRYM	NM_001888.5(CRYM):c.945A>T:p.Ter315Tyr	coding	Pathogenic
16	21258785	T	G	T21258785G	CRYM	NM_001888.5(CRYM):c.941A>C:p.Lys314Thr	coding	Pathogenic
16	21261270	G	C	G21261270C	CRYM	NM_001376256.1(CRYM):c.864C>G:p.Thr288=	coding	Benign
16	21261327	A	G	A21261327G	CRYM	NM_001888.5(CRYM):c.807T>C:p.Phe269=	coding	Benign/Likely_benign
16	21262091	G	A	G21262091A	CRYM	NM_001376256.1(CRYM):c.741C>T:p.Tyr247=	coding	Benign
16	21267746	G	A	G21267746A	CRYM	NM_001376256.1(CRYM):c.490-9C>T	noncoding	Benign
16	21267749	G	A	G21267749A	CRYM	NM_001888.5(CRYM):c.490-12C>T	noncoding	Benign
16	21267823	G	A	G21267823A	CRYM	NM_001888.5(CRYM):c.490-86C>T	noncoding	Benign
16	21275606	A	G	A21275606G	CRYM	NM_001888.5(CRYM):c.325-12T>C	noncoding	Benign
16	21277683	C	T	C21277683T	CRYM	NM_001888.5(CRYM):c.171-99G>A	noncoding	Benign
16	21678558	T	A	T21678558A	OTOA	NM_144672.4(OTOA):c.44T>A:p.Phe15Tyr	coding	Benign
16	21678904	C	A	C21678904A	OTOA	NM_144672.4(OTOA):c.92-11C>A	noncoding	Benign
16	21679238	G	A	G21679238A	OTOA	NM_144672.4(OTOA):c.179+27G>A	noncoding	Benign
16	21685228	A	G	A21685228G	OTOA	NM_144672.4(OTOA):c.268-2A>G	noncoding	Pathogenic
16	21687628	C	T	C21687628T	OTOA	NM_144672.4(OTOA):c.615C>T:p.Arg205=	coding	Benign
16	21697790	G	A	G21697790A	OTOA	NM_144672.4(OTOA):c.755G>A:p.Trp252Ter	coding	Pathogenic/Likely_pathogenic
16	21700968	G	A	G21700968A	OTOA	NM_144672.4(OTOA):c.921G>A:p.Ala307=	coding	Benign
16	21705213	A	T	A21705213T	OTOA	NM_144672.4(OTOA):c.1025A>T:p.Asp342Val	coding	Pathogenic
16	21705283	C	T	C21705283T	OTOA	NM_144672.4(OTOA):c.1095C>T:p.Gly365=	coding	Benign
16	21709924	C	G	C21709924G	OTOA	NM_144672.4(OTOA):c.1141C>G:p.Gln381Glu	coding	Benign/Likely_benign
16	21710105	T	C	T21710105C	OTOA	NM_144672.4(OTOA):c.1320+2T>C	noncoding	Pathogenic
16	21715016	G	A	G21715016A	OTOA	NM_144672.4(OTOA):c.1352G>A:p.Gly451Asp	coding	Pathogenic
16	21716940	G	A	G21716940A	OTOA	NM_144672.4(OTOA):c.1522G>A:p.Val508Met	coding	Benign
16	21716941	T	C	T21716941C	OTOA	NM_144672.4(OTOA):c.1523T>C:p.Val508Ala	coding	Benign/Likely_benign
16	21719128	C	T	C21719128T	OTOA	NM_144672.4(OTOA):c.1630-5C>T	noncoding	Benign
16	21719192	G	T	G21719192T	OTOA	NM_144672.4(OTOA):c.1688+1G>T	coding	Pathogenic
16	21722977	C	T	C21722977T	OTOA	NM_144672.4(OTOA):c.1879C>T:p.Pro627Ser	coding	Pathogenic
16	21722979	G	A	G21722979A	OTOA	NM_144672.4(OTOA):c.1880+1G>A	coding	Pathogenic
16	21728344	C	T	C21728344T	OTOA	NM_144672.4(OTOA):c.2120C>T:p.Ala707Val	coding	Benign
16	21730858	C	T	C21730858T	OTOA	NM_144672.4(OTOA):c.2229C>T:p.Ala743=	coding	Benign
16	21730867	G	A	G21730867A	OTOA	NM_144672.4(OTOA):c.2238G>A:p.Thr746=	coding	Benign
16	21736341	G	A	G21736341A	OTOA	NM_144672.4(OTOA):c.2382G>A:p.Gln794=	coding	Benign/Likely_benign
16	21736401	T	C	T21736401C	OTOA	NM_144672.4(OTOA):c.2431+11T>C	noncoding	Benign
16	21736417	A	G	A21736417G	OTOA	NM_144672.4(OTOA):c.2431+27A>G	noncoding	Benign
16	21760390	C	T	C21760390T	OTOA	NM_144672.4(OTOA):c.3350-80C>T	noncoding	Benign
16	21953392	G	T	G21953392T	UQCRC2	NM_003366.4(UQCRC2):c.-32G>T	noncoding	Benign
16	21957328	A	G	A21957328G	UQCRC2	NM_003366.4(UQCRC2):c.117+10A>G	noncoding	Benign/Likely_benign
16	21962813	C	A	C21962813A	UQCRC2	NM_003366.4(UQCRC2):c.442C>A:p.Arg148Ser	coding	Benign
16	21965440	C	T	C21965440T	UQCRC2	NM_003366.4(UQCRC2):c.547C>T:p.Arg183Trp	coding	Pathogenic
16	21965441	G	A	G21965441A	UQCRC2	NM_003366.4(UQCRC2):c.548G>A:p.Arg183Gln	coding	Benign
16	21968532	A	G	A21968532G	UQCRC2	NM_003366.4(UQCRC2):c.613-96A>G	noncoding	Benign
16	21971615	G	A	G21971615A	UQCRC2	NM_003366.4(UQCRC2):c.761G>A:p.Arg254His	coding	Benign
16	21976160	G	C	G21976160C	UQCRC2	NM_003366.4(UQCRC2):c.1048-7G>C	noncoding	Benign
16	21983090	G	A	G21983090A	UQCRC2	NM_003366.4(UQCRC2):c.1281G>A:p.Ala427=	coding	Benign
16	23186224	C	G	C23186224G	SCNN1G	NM_001039.4(SCNN1G):c.-44-4C>G	noncoding	Benign
16	23186241	A	G	A23186241G	SCNN1G	NM_001039.4(SCNN1G):c.-31A>G	noncoding	Benign
16	23189370	G	A	G23189370A	SCNN1G	NM_001039.4(SCNN1G):c.318-1G>A	noncoding	Pathogenic
16	23189440	T	C	T23189440C	SCNN1G	NM_001039.4(SCNN1G):c.387T>C:p.Tyr129=	coding	Benign
16	23189488	C	T	C23189488T	SCNN1G	NM_001039.4(SCNN1G):c.435C>T:p.Ser145=	coding	Benign/Likely_benign
16	23189527	T	C	T23189527C	SCNN1G	NM_001039.4(SCNN1G):c.474T>C:p.Ile158=	coding	Benign
16	23189600	G	A	G23189600A	SCNN1G	NM_001039.4(SCNN1G):c.547G>A:p.Gly183Ser	coding	Benign/Likely_benign
16	23189602	C	T	C23189602T	SCNN1G	NM_001039.4(SCNN1G):c.549C>T:p.Gly183=	coding	Benign
16	23189642	G	A	G23189642A	SCNN1G	NM_001039.4(SCNN1G):c.589G>A:p.Glu197Lys	coding	Benign/Likely_benign
16	23192369	C	T	C23192369T	SCNN1G	NM_001039.4(SCNN1G):c.636C>T:p.Ser212=	coding	Benign
16	23192432	C	T	C23192432T	SCNN1G	NM_001039.4(SCNN1G):c.699C>T:p.His233=	coding	Benign
16	23209862	A	G	A23209862G	SCNN1G	NM_001039.4(SCNN1G):c.1176+14A>G	noncoding	Benign
16	23213095	G	A	G23213095A	SCNN1G	NM_001039.4(SCNN1G):c.1432-7G>A	noncoding	Benign
16	23214797	G	A	G23214797A	SCNN1G	NM_001039.4(SCNN1G):c.1569+10G>A	noncoding	Benign
16	23215080	G	A	G23215080A	SCNN1G	NM_001039.4(SCNN1G):c.1570-9G>A	noncoding	Benign/Likely_benign
16	23215088	G	A	G23215088A	SCNN1G	NM_001039.4(SCNN1G):c.1570-1G>A	noncoding	Pathogenic
16	23215237	G	A	G23215237A	SCNN1G	NM_001039.4(SCNN1G):c.1718G>A:p.Trp573Ter	coding	Pathogenic
16	23215466	C	G	C23215466G	SCNN1G	NM_001039.4(SCNN1G):c.1947C>G:p.Leu649=	coding	Benign
16	23215575	G	A	G23215575A	SCNN1G	NM_001039.4(SCNN1G):c.*106G>A	noncoding	Benign
16	23215623	G	T	G23215623T	SCNN1G	NM_001039.4(SCNN1G):c.*154G>T	noncoding	Benign
16	23215628	T	G	T23215628G	SCNN1G	NM_001039.4(SCNN1G):c.*159T>G	noncoding	Benign
16	23215705	C	T	C23215705T	SCNN1G	NM_001039.4(SCNN1G):c.*236C>T	noncoding	Benign
16	23215737	G	A	G23215737A	SCNN1G	NM_001039.4(SCNN1G):c.*268G>A	noncoding	Benign
16	23216041	A	G	A23216041G	SCNN1G	NM_001039.4(SCNN1G):c.*572A>G	noncoding	Benign
16	23216075	T	A	T23216075A	SCNN1G	NM_001039.4(SCNN1G):c.*606T>A	noncoding	Benign
16	23216128	T	C	T23216128C	SCNN1G	NM_001039.4(SCNN1G):c.*659T>C	noncoding	Benign
16	23216838	C	T	C23216838T	SCNN1G	NM_001039.4(SCNN1G):c.*1369C>T	noncoding	Benign
16	23348746	A	G	A23348746G	SCNN1B	NM_000336.3(SCNN1B):c.147A>G:p.Lys49=	coding	Benign
16	23348878	T	C	T23348878C	SCNN1B	NM_000336.3(SCNN1B):c.279T>C:p.Pro93=	coding	Benign
16	23348881	C	T	C23348881T	SCNN1B	NM_000336.3(SCNN1B):c.282C>T:p.Ala94=	coding	Benign/Likely_benign
16	23367851	T	C	T23367851C	SCNN1B	NM_000336.3(SCNN1B):c.777-5T>C	noncoding	Benign/Likely_benign
16	23367879	C	T	C23367879T	SCNN1B	NM_000336.3(SCNN1B):c.800C>T:p.Pro267Leu	coding	Pathogenic
16	23367942	A	G	A23367942G	SCNN1B	NM_000336.3(SCNN1B):c.863A>G:p.Asn288Ser	coding	Pathogenic
16	23367958	C	T	C23367958T	SCNN1B	NM_000336.3(SCNN1B):c.879C>T:p.Phe293=	coding	Benign
16	23371836	C	A	C23371836A	SCNN1B	NM_000336.3(SCNN1B):c.1105C>A:p.Pro369Thr	coding	Pathogenic
16	23375747	C	T	C23375747T	SCNN1B	NM_000336.3(SCNN1B):c.1162C>T:p.Arg388Cys	coding	Benign
16	23375842	C	T	C23375842T	SCNN1B	NM_000336.3(SCNN1B):c.1257C>T:p.Asp419=	coding	Benign/Likely_benign
16	23377219	G	T	G23377219T	SCNN1B	NM_000336.3(SCNN1B):c.1325G>T:p.Gly442Val	coding	Benign
16	23377383	C	T	C23377383T	SCNN1B	NM_000336.3(SCNN1B):c.1401C>T:p.Ser467=	coding	Benign/Likely_benign
16	23380080	G	A	G23380080A	SCNN1B	NM_000336.3(SCNN1B):c.1467-14G>A	noncoding	Benign
16	23380170	G	A	G23380170A	SCNN1B	NM_000336.3(SCNN1B):c.1542+1G>A	coding	Pathogenic
16	23380404	C	T	C23380404T	SCNN1B	NM_000336.3(SCNN1B):c.1543-17C>T	noncoding	Benign/Likely_benign
16	23380419	A	G	A23380419G	SCNN1B	NM_000336.3(SCNN1B):c.1543-2A>G	noncoding	Pathogenic
16	23380493	G	A	G23380493A	SCNN1B	NM_000336.3(SCNN1B):c.1615G>A:p.Glu539Lys	coding	Pathogenic
16	23380574	C	T	C23380574T	SCNN1B	NM_000336.3(SCNN1B):c.1696C>T:p.Arg566Ter	coding	Pathogenic
16	23380609	C	T	C23380609T	SCNN1B	NM_000336.3(SCNN1B):c.1731C>T:p.Thr577=	coding	Benign/Likely_benign
16	23380625	G	T	G23380625T	SCNN1B	NM_000336.3(SCNN1B):c.1747G>T:p.Glu583Ter	coding	Pathogenic
16	23380643	G	A	G23380643A	SCNN1B	NM_000336.3(SCNN1B):c.1765G>A:p.Gly589Ser	coding	Benign/Likely_benign
16	23380659	C	T	C23380659T	SCNN1B	NM_000336.3(SCNN1B):c.1781C>T:p.Thr594Met	coding	Benign
16	23380660	G	A	G23380660A	SCNN1B	NM_000336.3(SCNN1B):c.1782G>A:p.Thr594=	coding	Benign/Likely_benign
16	23380725	C	G	C23380725G	SCNN1B	NM_000336.3(SCNN1B):c.1847C>G:p.Pro616Arg	coding	Pathogenic
16	23380725	C	T	C23380725T	SCNN1B	NM_000336.3(SCNN1B):c.1847C>T:p.Pro616Leu	coding	Pathogenic
16	23380727	C	T	C23380727T	SCNN1B	NM_000336.3(SCNN1B):c.1849C>T:p.Pro617Ser	coding	Pathogenic
16	23380730	C	T	C23380730T	SCNN1B	NM_000336.3(SCNN1B):c.1852C>T:p.Pro618Ser	coding	Pathogenic
16	23380736	T	C	T23380736C	SCNN1B	NM_000336.3(SCNN1B):c.1858T>C:p.Tyr620His	coding	Pathogenic
16	23380761	T	A	T23380761A	SCNN1B	NM_000336.3(SCNN1B):c.1883T>A:p.Leu628Gln	coding	Benign/Likely_benign
16	23388873	G	A	G23388873A	COG7	NM_153603.4(COG7):c.*47C>T	noncoding	Benign
16	23388911	G	T	G23388911T	COG7	NM_153603.4(COG7):c.*9C>A	noncoding	Benign/Likely_benign
16	23392423	A	G	A23392423G	COG7	NM_153603.4(COG7):c.2103T>C:p.Pro701=	coding	Benign
16	23398081	C	T	C23398081T	COG7	NM_153603.4(COG7):c.1852G>A:p.Ala618Thr	coding	Benign/Likely_benign
16	23398119	G	A	G23398119A	COG7	NM_153603.4(COG7):c.1814C>T:p.Thr605Met	coding	Benign
16	23406263	C	A	C23406263A	COG7	NM_153603.4(COG7):c.1476-1G>T	coding	Pathogenic
16	23413536	G	A	G23413536A	COG7	NM_153603.4(COG7):c.1321C>T:p.Gln441Ter	coding	Pathogenic
16	23418692	G	A	G23418692A	COG7	NM_153603.4(COG7):c.1137+8C>T	noncoding	Benign/Likely_benign
16	23418748	G	A	G23418748A	COG7	NM_153603.4(COG7):c.1089C>T:p.Gly363=	coding	Benign/Likely_benign
16	23442547	C	T	C23442547T	COG7	NM_153603.4(COG7):c.534G>A:p.Glu178=	coding	Benign/Likely_benign
16	23445117	G	A	G23445117A	COG7	NM_153603.4(COG7):c.366C>T:p.Ala122=	coding	Benign/Likely_benign
16	23445968	T	C	T23445968C	COG7	NM_153603.4(COG7):c.170-7A>G	noncoding	Pathogenic
16	23452822	T	G	T23452822G	COG7	NM_153603.4(COG7):c.169+4A>C	noncoding	Pathogenic
16	23522077	A	G	A23522077G	EARS2	NM_001083614.2(EARS2):c.*2294T>C	noncoding	Benign
16	23522215	A	C	A23522215C	EARS2	NM_001083614.2(EARS2):c.*2156T>G	noncoding	Benign
16	23522777	G	A	G23522777A	EARS2	NM_001083614.2(EARS2):c.*1594C>T	noncoding	Benign
16	23522873	T	C	T23522873C	EARS2	NM_001083614.2(EARS2):c.*1498A>G	noncoding	Benign
16	23522928	G	C	G23522928C	EARS2	NM_001083614.2(EARS2):c.*1443C>G	noncoding	Benign
16	23522983	G	A	G23522983A	EARS2	NM_001083614.2(EARS2):c.*1388C>T	noncoding	Benign
16	23523009	A	G	A23523009G	EARS2	NM_001083614.2(EARS2):c.*1362T>C	noncoding	Benign
16	23523138	G	A	G23523138A	EARS2	NM_001083614.2(EARS2):c.*1233C>T	noncoding	Benign
16	23523272	T	C	T23523272C	EARS2	NM_001083614.2(EARS2):c.*1099A>G	noncoding	Benign
16	23523616	G	A	G23523616A	EARS2	NM_001083614.2(EARS2):c.*755C>T	noncoding	Benign
16	23523656	C	T	C23523656T	EARS2	NM_001083614.2(EARS2):c.*715G>A	noncoding	Benign
16	23523971	T	C	T23523971C	EARS2	NM_001083614.2(EARS2):c.*400A>G	noncoding	Benign
16	23524359	A	C	A23524359C	EARS2	NM_001083614.2(EARS2):c.*12T>G	noncoding	Benign
16	23524396	C	T	C23524396T	EARS2	NM_001083614.2(EARS2):c.1547G>A:p.Arg516Gln	coding	Pathogenic/Likely_pathogenic
16	23525045	T	C	T23525045C	EARS2	NM_001083614.2(EARS2):c.1488+199A>G	coding	Benign
16	23525210	C	T	C23525210T	EARS2	NM_001083614.2(EARS2):c.1488+34G>A	coding	Benign
16	23525320	T	G	T23525320G	EARS2	NM_001083614.2(EARS2):c.1412A>C:p.Lys471Thr	coding	Benign/Likely_benign
16	23525363	T	C	T23525363C	EARS2	NM_001083614.2(EARS2):c.1369A>G:p.Ser457Gly	coding	Benign
16	23529477	C	T	C23529477T	EARS2	NM_001083614.2(EARS2):c.1352+25G>A	noncoding	Benign
16	23529537	C	T	C23529537T	EARS2	NM_001083614.2(EARS2):c.1317G>A:p.Ser439=	coding	Benign/Likely_benign
16	23529771	G	C	G23529771C	EARS2	NM_001083614.2(EARS2):c.1194C>G:p.Tyr398Ter	coding	Pathogenic
16	23529902	G	A	G23529902A	EARS2	NM_001083614.2(EARS2):c.1068-5C>T	noncoding	Benign
16	23532740	C	T	C23532740T	EARS2	NM_001083614.2(EARS2):c.984G>A:p.Pro328=	coding	Benign
16	23534985	C	T	C23534985T	EARS2	NM_001083614.2(EARS2):c.861G>A:p.Lys287=	coding	Benign
16	23535033	G	A	G23535033A	EARS2	NM_001083614.2(EARS2):c.813C>T:p.Phe271=	coding	Benign/Likely_benign
16	23535141	G	A	G23535141A	EARS2	NM_001083614.2(EARS2):c.705C>T:p.Asp235=	coding	Benign
16	23535162	G	T	G23535162T	EARS2	NM_001083614.2(EARS2):c.684C>A:p.Tyr228Ter	coding	Pathogenic
16	23535176	C	T	C23535176T	EARS2	NM_001083614.2(EARS2):c.670G>A:p.Gly224Ser	coding	Benign
16	23535236	C	T	C23535236T	EARS2	NM_001083614.2(EARS2):c.610G>A:p.Gly204Ser	coding	Pathogenic
16	23535240	G	C	G23535240C	EARS2	NM_001083614.2(EARS2):c.606C>G:p.Val202=	coding	Benign
16	23535266	C	T	C23535266T	EARS2	NM_001083614.2(EARS2):c.580G>A:p.Val194Met	coding	Benign
16	23535344	T	C	T23535344C	EARS2	NM_001083614.2(EARS2):c.502A>G:p.Arg168Gly	coding	Pathogenic
16	23535346	C	T	C23535346T	EARS2	NM_001083614.2(EARS2):c.500G>A:p.Cys167Tyr	coding	Pathogenic
16	23544405	C	T	C23544405T	EARS2	NM_001083614.2(EARS2):c.485+109G>A	noncoding	Benign
16	23544597	G	A	G23544597A	EARS2	NM_001083614.2(EARS2):c.402C>T:p.Thr134=	coding	Benign
16	23544671	C	T	C23544671T	EARS2	NM_001083614.2(EARS2):c.328G>A:p.Gly110Ser	coding	Pathogenic/Likely_pathogenic
16	23544677	G	A	G23544677A	EARS2	NM_001083614.2(EARS2):c.322C>T:p.Arg108Trp	coding	Pathogenic/Likely_pathogenic
16	23544679	C	T	C23544679T	EARS2	NM_001083614.2(EARS2):c.320G>A:p.Arg107His	coding	Pathogenic/Likely_pathogenic
16	23552158	C	T	C23552158T	EARS2	NM_001083614.2(EARS2):c.286G>A:p.Glu96Lys	coding	Pathogenic
16	23552180	C	T	C23552180T	EARS2	NM_001083614.2(EARS2):c.264G>A:p.Ala88=	coding	Benign
16	23552198	G	A	G23552198A	EARS2	NM_001083614.2(EARS2):c.246C>T:p.Arg82=	coding	Benign/Likely_benign
16	23552251	T	C	T23552251C	EARS2	NM_001083614.2(EARS2):c.193A>G:p.Lys65Glu	coding	Pathogenic
16	23557328	T	C	T23557328C	EARS2	NM_001083614.2(EARS2):c.16A>G:p.Arg6Gly	coding	Benign/Likely_benign
16	23557329	C	G	C23557329G	EARS2	NM_001083614.2(EARS2):c.15G>C:p.Leu5=	coding	Benign
16	23587263	C	T	C23587263T	NDUFAB1	NM_005003.3(NDUFAB1):c.225G>A:p.Thr75=	coding	Benign
16	23596251	G	A	G23596251A	NDUFAB1	NM_005003.3(NDUFAB1):c.40C>T:p.Pro14Ser	coding	Benign
16	23603471	G	C	G23603471C	PALB2	NM_024675.3(PALB2):c.3549C>G:p.Tyr1183Ter	coding	Pathogenic/Likely_pathogenic
16	23603471	G	T	G23603471T	PALB2	NM_024675.3(PALB2):c.3549C>A:p.Tyr1183Ter	coding	Pathogenic
16	23603497	G	A	G23603497A	PALB2	NM_024675.3(PALB2):c.3523C>T:p.Gln1175Ter	coding	Pathogenic
16	23603526	G	T	G23603526T	PALB2	NM_024675.3(PALB2):c.3494C>A:p.Ser1165Ter	coding	Pathogenic
16	23603528	C	T	C23603528T	PALB2	NM_024675.3(PALB2):c.3492G>A:p.Trp1164Ter	coding	Pathogenic/Likely_pathogenic
16	23603529	C	T	C23603529T	PALB2	NM_024675.3(PALB2):c.3491G>A:p.Trp1164Ter	coding	Pathogenic/Likely_pathogenic
16	23603543	C	T	C23603543T	PALB2	NM_024675.3(PALB2):c.3477G>A:p.Trp1159Ter	coding	Pathogenic
16	23603544	C	T	C23603544T	PALB2	NM_024675.3(PALB2):c.3476G>A:p.Trp1159Ter	coding	Pathogenic
16	23603551	G	A	G23603551A	PALB2	NM_024675.4(PALB2):c.3469C>T:p.Gln1157Ter	coding	Pathogenic
16	23603579	A	T	A23603579T	PALB2	NM_024675.3(PALB2):c.3441T>A:p.Cys1147Ter	coding	Pathogenic
16	23603584	G	A	G23603584A	PALB2	NM_024675.3(PALB2):c.3436C>T:p.Gln1146Ter	coding	Pathogenic
16	23603595	A	C	A23603595C	PALB2	NM_024675.4(PALB2):c.3425T>G:p.Leu1142Ter	coding	Pathogenic
16	23603595	A	T	A23603595T	PALB2	NM_024675.3(PALB2):c.3425T>A:p.Leu1142Ter	coding	Pathogenic
16	23603600	C	T	C23603600T	PALB2	NM_024675.3(PALB2):c.3420G>A:p.Trp1140Ter	coding	Pathogenic
16	23603625	A	T	A23603625T	PALB2	NM_024675.4(PALB2):c.3395T>A:p.Leu1132Ter	coding	Pathogenic
16	23603662	C	A	C23603662A	PALB2	NM_024675.3(PALB2):c.3358G>T:p.Glu1120Ter	coding	Pathogenic
16	23603717	C	A	C23603717A	PALB2	NM_024675.4(PALB2):c.3351-48G>T	noncoding	Benign
16	23607860	T	C	T23607860C	PALB2	NM_024675.3(PALB2):c.3350+4A>G	noncoding	Pathogenic/Likely_pathogenic
16	23607863	C	T	C23607863T	PALB2	NM_024675.3(PALB2):c.3350+1G>A	noncoding	Pathogenic
16	23607874	G	A	G23607874A	PALB2	NM_024675.3(PALB2):c.3340C>T:p.Gln1114Ter	coding	Pathogenic
16	23607890	G	C	G23607890C	PALB2	NM_024675.3(PALB2):c.3324C>G:p.Tyr1108Ter	coding	Pathogenic
16	23607914	A	C	A23607914C	PALB2	NM_024675.3(PALB2):c.3300T>G:p.Thr1100=	coding	Benign/Likely_benign
16	23607943	G	A	G23607943A	PALB2	NM_024675.4(PALB2):c.3271C>T:p.Gln1091Ter	coding	Pathogenic/Likely_pathogenic
16	23607958	G	A	G23607958A	PALB2	NM_024675.3(PALB2):c.3256C>T:p.Arg1086Ter	coding	Pathogenic/Likely_pathogenic
16	23608013	C	T	C23608013T	PALB2	NM_024675.3(PALB2):c.3202-1G>A	coding	Pathogenic/Likely_pathogenic
16	23608020	C	A	C23608020A	PALB2	NM_024675.3(PALB2):c.3202-8G>T	noncoding	Benign/Likely_benign
16	23614039	G	A	G23614039A	PALB2	NM_024675.3(PALB2):c.3166C>T:p.Gln1056Ter	coding	Pathogenic
16	23614040	G	C	G23614040C	PALB2	NM_024675.3(PALB2):c.3165C>G:p.Tyr1055Ter	coding	Pathogenic
16	23614040	G	T	G23614040T	PALB2	NM_024675.3(PALB2):c.3165C>A:p.Tyr1055Ter	coding	Pathogenic
16	23614075	G	A	G23614075A	PALB2	NM_024675.3(PALB2):c.3130C>T:p.Gln1044Ter	coding	Pathogenic/Likely_pathogenic
16	23614091	C	T	C23614091T	PALB2	NM_024675.3(PALB2):c.3114G>A:p.Trp1038Ter	coding	Pathogenic
16	23621362	C	T	C23621362T	PALB2	NM_024675.3(PALB2):c.3113G>A:p.Trp1038Ter	coding	Pathogenic/Likely_pathogenic
16	23621408	G	A	G23621408A	PALB2	NM_024675.3(PALB2):c.3067C>T:p.Gln1023Ter	coding	Pathogenic
16	23621447	C	A	C23621447A	PALB2	NM_024675.4(PALB2):c.3028G>T:p.Glu1010Ter	coding	Pathogenic
16	23622102	C	G	C23622102G	PALB2	NM_024675.4(PALB2):c.2997-624G>C	noncoding	Benign
16	23622952	A	G	A23622952G	PALB2	NM_024675.3(PALB2):c.2996+17T>C	noncoding	Benign/Likely_benign
16	23622972	C	T	C23622972T	PALB2	NM_024675.3(PALB2):c.2993G>A:p.Gly998Glu	coding	Benign/Likely_benign
16	23622979	C	A	C23622979A	PALB2	NM_024675.3(PALB2):c.2986G>T:p.Glu996Ter	coding	Pathogenic
16	23622997	C	A	C23622997A	PALB2	NM_024675.3(PALB2):c.2968G>T:p.Glu990Ter	coding	Pathogenic
16	23623003	G	A	G23623003A	PALB2	NM_024675.3(PALB2):c.2962C>T:p.Gln988Ter	coding	Pathogenic
16	23623084	G	A	G23623084A	PALB2	NM_024675.3(PALB2):c.2881C>T:p.Leu961=	coding	Benign/Likely_benign
16	23623096	T	A	T23623096A	PALB2	NM_024675.3(PALB2):c.2869A>T:p.Lys957Ter	coding	Pathogenic
16	23623099	C	A	C23623099A	PALB2	NM_024675.3(PALB2):c.2866G>T:p.Glu956Ter	coding	Pathogenic
16	23623105	C	A	C23623105A	PALB2	NM_024675.3(PALB2):c.2860G>T:p.Glu954Ter	coding	Pathogenic
16	23623131	C	G	C23623131G	PALB2	NM_024675.3(PALB2):c.2835-1G>C	coding	Pathogenic/Likely_pathogenic
16	23623991	T	A	T23623991A	PALB2	NM_024675.3(PALB2):c.2834+18A>T	noncoding	Benign/Likely_benign
16	23623994	T	C	T23623994C	PALB2	NM_024675.3(PALB2):c.2834+15A>G	noncoding	Benign/Likely_benign
16	23624008	C	A	C23624008A	PALB2	NM_024675.3(PALB2):c.2834+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	23624008	C	T	C23624008T	PALB2	NM_024675.3(PALB2):c.2834+1G>A	noncoding	Pathogenic/Likely_pathogenic
16	23624019	T	A	T23624019A	PALB2	NM_024675.4(PALB2):c.2824A>T:p.Arg942Ter	coding	Pathogenic
16	23624049	C	T	C23624049T	PALB2	NM_024675.3(PALB2):c.2794G>A:p.Val932Met	coding	Benign/Likely_benign
16	23624056	A	C	A23624056C	PALB2	NM_024675.3(PALB2):c.2787T>G:p.Tyr929Ter	coding	Pathogenic
16	23624082	G	A	G23624082A	PALB2	NM_024675.4(PALB2):c.2761C>T:p.Gln921Ter	coding	Pathogenic
16	23624112	G	A	G23624112A	PALB2	NM_024675.3(PALB2):c.2749-18C>T	noncoding	Benign/Likely_benign
16	23626235	C	A	C23626235A	PALB2	NM_024675.3(PALB2):c.2748+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	23626235	C	T	C23626235T	PALB2	NM_024675.3(PALB2):c.2748+1G>A	noncoding	Pathogenic/Likely_pathogenic
16	23626242	G	A	G23626242A	PALB2	NM_024675.3(PALB2):c.2742C>T:p.Phe914=	coding	Benign/Likely_benign
16	23626248	C	T	C23626248T	PALB2	NM_024675.4(PALB2):c.2736G>A:p.Trp912Ter	coding	Pathogenic
16	23626254	A	T	A23626254T	PALB2	NM_024675.3(PALB2):c.2730T>A:p.Tyr910Ter	coding	Pathogenic
16	23626266	C	T	C23626266T	PALB2	NM_024675.3(PALB2):c.2718G>A:p.Trp906Ter	coding	Pathogenic
16	23626272	C	T	C23626272T	PALB2	NM_024675.3(PALB2):c.2712G>A:p.Trp904Ter	coding	Pathogenic
16	23626273	C	T	C23626273T	PALB2	NM_024675.3(PALB2):c.2711G>A:p.Trp904Ter	coding	Pathogenic
16	23626290	C	T	C23626290T	PALB2	NM_024675.3(PALB2):c.2694G>A:p.Trp898Ter	coding	Pathogenic
16	23626291	C	T	C23626291T	PALB2	NM_024675.3(PALB2):c.2693G>A:p.Trp898Ter	coding	Pathogenic
16	23626310	C	A	C23626310A	PALB2	NM_024675.3(PALB2):c.2674G>T:p.Glu892Ter	coding	Pathogenic
16	23626311	G	T	G23626311T	PALB2	NM_024675.3(PALB2):c.2673C>A:p.Cys891Ter	coding	Pathogenic
16	23626334	C	A	C23626334A	PALB2	NM_024675.3(PALB2):c.2650G>T:p.Glu884Ter	coding	Pathogenic
16	23626352	C	A	C23626352A	PALB2	NM_024675.3(PALB2):c.2632G>T:p.Glu878Ter	coding	Pathogenic
16	23626354	C	T	C23626354T	PALB2	NM_024675.3(PALB2):c.2630G>A:p.Trp877Ter	coding	Pathogenic
16	23626377	G	A	G23626377A	PALB2	NM_024675.3(PALB2):c.2607C>T:p.Ser869=	coding	Benign/Likely_benign
16	23626377	G	T	G23626377T	PALB2	NM_024675.3(PALB2):c.2607C>A:p.Ser869=	coding	Benign/Likely_benign
16	23626390	G	C	G23626390C	PALB2	NM_024675.3(PALB2):c.2594C>G:p.Ser865Ter	coding	Pathogenic
16	23626394	G	A	G23626394A	PALB2	NM_024675.3(PALB2):c.2590C>T:p.Pro864Ser	coding	Benign/Likely_benign
16	23627100	C	T	C23627100T	PALB2	NM_024675.4(PALB2):c.2587-703G>A	noncoding	Benign
16	23629146	G	A	G23629146A	PALB2	NM_024675.4(PALB2):c.2586+58C>T	noncoding	Benign
16	23629203	C	A	C23629203A	PALB2	NM_024675.4(PALB2):c.2586+1G>T	noncoding	Pathogenic
16	23629214	G	T	G23629214T	PALB2	NM_024675.3(PALB2):c.2576C>A:p.Ser859Ter	coding	Pathogenic/Likely_pathogenic
16	23629224	G	A	G23629224A	PALB2	NM_024675.3(PALB2):c.2566C>T:p.Gln856Ter	coding	Pathogenic/Likely_pathogenic
16	23629638	A	G	A23629638G	PALB2	NM_024675.3(PALB2):c.2514+2T>C	noncoding	Pathogenic
16	23629642	G	A	G23629642A	PALB2	NM_024675.3(PALB2):c.2512C>T:p.Gln838Ter	coding	Pathogenic
16	23629645	C	A	C23629645A	PALB2	NM_024675.3(PALB2):c.2509G>T:p.Glu837Ter	coding	Pathogenic
16	23629669	G	A	G23629669A	PALB2	NM_024675.4(PALB2):c.2485C>T:p.Gln829Ter	coding	Pathogenic
16	23629690	G	A	G23629690A	PALB2	NM_024675.3(PALB2):c.2464C>T:p.Gln822Ter	coding	Pathogenic
16	23629732	C	A	C23629732A	PALB2	NM_024675.3(PALB2):c.2422G>T:p.Gly808Ter	coding	Pathogenic
16	23629765	G	A	G23629765A	PALB2	NM_024675.4(PALB2):c.2389C>T:p.Gln797Ter	coding	Pathogenic
16	23629768	C	A	C23629768A	PALB2	NM_024675.3(PALB2):c.2386G>T:p.Gly796Ter	coding	Pathogenic/Likely_pathogenic
16	23629779	G	C	G23629779C	PALB2	NM_024675.3(PALB2):c.2375C>G:p.Ser792Ter	coding	Pathogenic
16	23629786	G	A	G23629786A	PALB2	NM_024675.3(PALB2):c.2368C>T:p.Gln790Ter	coding	Pathogenic/Likely_pathogenic
16	23629789	G	A	G23629789A	PALB2	NM_024675.3(PALB2):c.2365C>T:p.Leu789=	coding	Benign/Likely_benign
16	23629818	G	C	G23629818C	PALB2	NM_024675.3(PALB2):c.2336C>G:p.Ser779Ter	coding	Pathogenic/Likely_pathogenic
16	23629831	G	A	G23629831A	PALB2	NM_024675.3(PALB2):c.2323C>T:p.Gln775Ter	coding	Pathogenic
16	23629889	G	T	G23629889T	PALB2	NM_024675.4(PALB2):c.2265C>A:p.Cys755Ter	coding	Pathogenic
16	23629897	G	A	G23629897A	PALB2	NM_024675.4(PALB2):c.2257C>T:p.Arg753Ter	coding	Pathogenic
16	23629898	T	C	T23629898C	PALB2	NM_024675.3(PALB2):c.2256A>G:p.Gly752=	coding	Benign/Likely_benign
16	23629909	C	A	C23629909A	PALB2	NM_024675.3(PALB2):c.2245G>T:p.Glu749Ter	coding	Pathogenic
16	23629910	T	C	T23629910C	PALB2	NM_024675.3(PALB2):c.2244A>G:p.Thr748=	coding	Benign/Likely_benign
16	23629925	A	T	A23629925T	PALB2	NM_024675.3(PALB2):c.2229T>A:p.Tyr743Ter	coding	Pathogenic
16	23629936	G	A	G23629936A	PALB2	NM_024675.4(PALB2):c.2218C>T:p.Gln740Ter	coding	Pathogenic/Likely_pathogenic
16	23629946	G	T	G23629946T	PALB2	NM_024675.3(PALB2):c.2208C>A:p.Ala736=	coding	Benign/Likely_benign
16	23629962	A	C	A23629962C	PALB2	NM_024675.3(PALB2):c.2192T>G:p.Leu731Ter	coding	Pathogenic/Likely_pathogenic
16	23629991	T	G	T23629991G	PALB2	NM_024675.3(PALB2):c.2163A>C:p.Thr721=	coding	Benign/Likely_benign
16	23630019	G	A	G23630019A	PALB2	NM_024675.4(PALB2):c.2135C>T:p.Ala712Val	coding	Benign/Likely_benign
16	23630031	A	T	A23630031T	PALB2	NM_024675.4(PALB2):c.2123T>A:p.Leu708Ter	coding	Pathogenic
16	23630046	A	C	A23630046C	PALB2	NM_024675.3(PALB2):c.2108T>G:p.Leu703Ter	coding	Pathogenic
16	23630055	G	C	G23630055C	PALB2	NM_024675.4(PALB2):c.2099C>G:p.Ser700Ter	coding	Pathogenic
16	23630071	T	A	T23630071A	PALB2	NM_024675.4(PALB2):c.2083A>T:p.Lys695Ter	coding	Pathogenic
16	23630080	G	A	G23630080A	PALB2	NM_024675.3(PALB2):c.2074C>T:p.Gln692Ter	coding	Pathogenic
16	23630088	G	T	G23630088T	PALB2	NM_024675.3(PALB2):c.2066C>A:p.Ser689Ter	coding	Pathogenic
16	23630127	A	G	A23630127G	PALB2	NM_024675.3(PALB2):c.2027T>C:p.Ile676Thr	coding	Benign/Likely_benign
16	23630140	C	G	C23630140G	PALB2	NM_024675.4(PALB2):c.2014G>C:p.Glu672Gln	coding	Benign/Likely_benign
16	23630170	T	A	T23630170A	PALB2	NM_024675.3(PALB2):c.1984A>T:p.Lys662Ter	coding	Pathogenic
16	23630182	C	A	C23630182A	PALB2	NM_024675.4(PALB2):c.1972G>T:p.Glu658Ter	coding	Pathogenic
16	23630209	T	A	T23630209A	PALB2	NM_024675.3(PALB2):c.1945A>T:p.Lys649Ter	coding	Pathogenic
16	23630219	C	T	C23630219T	PALB2	NM_024675.3(PALB2):c.1935G>A:p.Glu645=	coding	Benign/Likely_benign
16	23630224	C	A	C23630224A	PALB2	NM_024675.3(PALB2):c.1930G>T:p.Gly644Ter	coding	Pathogenic
16	23630235	G	C	G23630235C	PALB2	NM_024675.3(PALB2):c.1919C>G:p.Ser640Ter	coding	Pathogenic
16	23630235	G	T	G23630235T	PALB2	NM_024675.3(PALB2):c.1919C>A:p.Ser640Ter	coding	Pathogenic
16	23630239	C	A	C23630239A	PALB2	NM_024675.4(PALB2):c.1915G>T:p.Glu639Ter	coding	Pathogenic
16	23630272	T	A	T23630272A	PALB2	NM_024675.4(PALB2):c.1882A>T:p.Lys628Ter	coding	Pathogenic
16	23630273	C	A	C23630273A	PALB2	NM_024675.3(PALB2):c.1881G>T:p.Val627=	coding	Benign/Likely_benign
16	23630344	G	A	G23630344A	PALB2	NM_024675.3(PALB2):c.1810C>T:p.Leu604=	coding	Benign/Likely_benign
16	23630360	C	T	C23630360T	PALB2	NM_024675.3(PALB2):c.1794G>A:p.Leu598=	coding	Benign/Likely_benign
16	23630368	C	A	C23630368A	PALB2	NM_024675.4(PALB2):c.1786G>T:p.Gly596Ter	coding	Pathogenic
16	23630430	C	T	C23630430T	PALB2	NM_024675.3(PALB2):c.1724G>A:p.Trp575Ter	coding	Pathogenic/Likely_pathogenic
16	23630452	G	A	G23630452A	PALB2	NM_024675.3(PALB2):c.1702C>T:p.Gln568Ter	coding	Pathogenic
16	23633265	A	G	A23633265G	PALB2	NM_024675.4(PALB2):c.1684+1597T>C	noncoding	Benign
16	23634833	T	C	T23634833C	PALB2	NM_024675.3(PALB2):c.1684+29A>G	noncoding	Benign
16	23634870	T	C	T23634870C	PALB2	NM_024675.3(PALB2):c.1676A>G:p.Gln559Arg	coding	Benign/Likely_benign
16	23634871	G	A	G23634871A	PALB2	NM_024675.3(PALB2):c.1675C>T:p.Gln559Ter	coding	Pathogenic
16	23634893	A	C	A23634893C	PALB2	NM_024675.4(PALB2):c.1653T>G:p.Tyr551Ter	coding	Pathogenic
16	23634893	A	T	A23634893T	PALB2	NM_024675.3(PALB2):c.1653T>A:p.Tyr551Ter	coding	Pathogenic/Likely_pathogenic
16	23634898	T	A	T23634898A	PALB2	NM_024675.3(PALB2):c.1648A>T:p.Lys550Ter	coding	Pathogenic
16	23634903	G	C	G23634903C	PALB2	NM_024675.4(PALB2):c.1643C>G:p.Ser548Ter	coding	Pathogenic
16	23634905	G	A	G23634905A	PALB2	NM_024675.3(PALB2):c.1641C>T:p.Thr547=	coding	Benign/Likely_benign
16	23634913	C	A	C23634913A	PALB2	NM_024675.3(PALB2):c.1633G>T:p.Glu545Ter	coding	Pathogenic
16	23634923	C	T	C23634923T	PALB2	NM_024675.3(PALB2):c.1623G>A:p.Arg541=	coding	Benign/Likely_benign
16	23634935	C	G	C23634935G	PALB2	NM_024675.3(PALB2):c.1611G>C:p.Ser537=	coding	Benign/Likely_benign
16	23634940	G	A	G23634940A	PALB2	NM_024675.3(PALB2):c.1606C>T:p.Leu536=	coding	Benign/Likely_benign
16	23634974	T	C	T23634974C	PALB2	NM_024675.3(PALB2):c.1572A>G:p.Ser524=	coding	Benign/Likely_benign
16	23634975	G	C	G23634975C	PALB2	NM_024675.3(PALB2):c.1571C>G:p.Ser524Ter	coding	Pathogenic
16	23634993	G	C	G23634993C	PALB2	NM_024675.3(PALB2):c.1553C>G:p.Ser518Ter	coding	Pathogenic
16	23634993	G	T	G23634993T	PALB2	NM_024675.4(PALB2):c.1553C>A:p.Ser518Ter	coding	Pathogenic
16	23634995	T	C	T23634995C	PALB2	NM_024675.4(PALB2):c.1551A>G:p.Lys517=	coding	Benign
16	23635010	G	T	G23635010T	PALB2	NM_024675.3(PALB2):c.1536C>A:p.Tyr512Ter	coding	Pathogenic
16	23635076	G	A	G23635076A	PALB2	NM_024675.3(PALB2):c.1470C>T:p.Pro490=	coding	Benign/Likely_benign
16	23635085	G	A	G23635085A	PALB2	NM_024675.4(PALB2):c.1461C>T:p.Val487=	coding	Benign
16	23635095	A	C	A23635095C	PALB2	NM_024675.4(PALB2):c.1451T>G:p.Leu484Ter	coding	Pathogenic/Likely_pathogenic
16	23635095	A	T	A23635095T	PALB2	NM_024675.3(PALB2):c.1451T>A:p.Leu484Ter	coding	Pathogenic/Likely_pathogenic
16	23635098	G	C	G23635098C	PALB2	NM_024675.3(PALB2):c.1448C>G:p.Ser483Ter	coding	Pathogenic
16	23635098	G	T	G23635098T	PALB2	NM_024675.3(PALB2):c.1448C>A:p.Ser483Ter	coding	Pathogenic
16	23635108	T	A	T23635108A	PALB2	NM_024675.3(PALB2):c.1438A>T:p.Lys480Ter	coding	Pathogenic
16	23635111	G	A	G23635111A	PALB2	NM_024675.3(PALB2):c.1435C>T:p.Gln479Ter	coding	Pathogenic
16	23635122	G	C	G23635122C	PALB2	NM_024675.3(PALB2):c.1424C>G:p.Ser475Ter	coding	Pathogenic/Likely_pathogenic
16	23635122	G	T	G23635122T	PALB2	NM_024675.3(PALB2):c.1424C>A:p.Ser475Ter	coding	Pathogenic
16	23635127	T	G	T23635127G	PALB2	NM_024675.3(PALB2):c.1419A>C:p.Pro473=	coding	Benign/Likely_benign
16	23635162	C	A	C23635162A	PALB2	NM_024675.4(PALB2):c.1384G>T:p.Glu462Ter	coding	Pathogenic/Likely_pathogenic
16	23635168	G	A	G23635168A	PALB2	NM_024675.3(PALB2):c.1378C>T:p.Gln460Ter	coding	Pathogenic
16	23635177	C	A	C23635177A	PALB2	NM_024675.3(PALB2):c.1369G>T:p.Glu457Ter	coding	Pathogenic
16	23635180	C	A	C23635180A	PALB2	NM_024675.3(PALB2):c.1366G>T:p.Glu456Ter	coding	Pathogenic/Likely_pathogenic
16	23635194	A	T	A23635194T	PALB2	NM_024675.4(PALB2):c.1352T>A:p.Leu451Ter	coding	Pathogenic
16	23635219	T	A	T23635219A	PALB2	NM_024675.3(PALB2):c.1327A>T:p.Lys443Ter	coding	Pathogenic
16	23635258	G	A	G23635258A	PALB2	NM_024675.3(PALB2):c.1288C>T:p.Gln430Ter	coding	Pathogenic/Likely_pathogenic
16	23635265	A	G	A23635265G	PALB2	NM_024675.3(PALB2):c.1281T>C:p.Ala427=	coding	Benign/Likely_benign
16	23635288	G	A	G23635288A	PALB2	NM_024675.3(PALB2):c.1258C>T:p.Gln420Ter	coding	Pathogenic
16	23635306	G	A	G23635306A	PALB2	NM_024675.4(PALB2):c.1240C>T:p.Arg414Ter	coding	Pathogenic
16	23635319	A	T	A23635319T	PALB2	NM_024675.4(PALB2):c.1227T>A:p.Tyr409Ter	coding	Pathogenic
16	23635417	G	A	G23635417A	PALB2	NM_024675.3(PALB2):c.1129C>T:p.Gln377Ter	coding	Pathogenic
16	23635429	C	A	C23635429A	PALB2	NM_024675.4(PALB2):c.1117G>T:p.Glu373Ter	coding	Pathogenic
16	23635498	G	A	G23635498A	PALB2	NM_024675.3(PALB2):c.1048C>T:p.Gln350Ter	coding	Pathogenic
16	23635504	G	A	G23635504A	PALB2	NM_024675.4(PALB2):c.1042C>T:p.Gln348Ter	coding	Pathogenic/Likely_pathogenic
16	23635507	C	A	C23635507A	PALB2	NM_024675.3(PALB2):c.1039G>T:p.Glu347Ter	coding	Pathogenic
16	23635519	G	A	G23635519A	PALB2	NM_024675.3(PALB2):c.1027C>T:p.Gln343Ter	coding	Pathogenic
16	23635536	A	C	A23635536C	PALB2	NM_024675.4(PALB2):c.1010T>G:p.Leu337Ter	coding	Pathogenic
16	23635536	A	T	A23635536T	PALB2	NM_024675.3(PALB2):c.1010T>A:p.Leu337Ter	coding	Pathogenic
16	23635544	G	T	G23635544T	PALB2	NM_024675.4(PALB2):c.1002C>A:p.Tyr334Ter	coding	Pathogenic
16	23635606	G	A	G23635606A	PALB2	NM_024675.3(PALB2):c.940C>T:p.Gln314Ter	coding	Pathogenic/Likely_pathogenic
16	23635615	T	A	T23635615A	PALB2	NM_024675.3(PALB2):c.931A>T:p.Lys311Ter	coding	Pathogenic
16	23635621	T	C	T23635621C	PALB2	NM_024675.3(PALB2):c.925A>G:p.Ile309Val	coding	Benign/Likely_benign
16	23635637	G	A	G23635637A	PALB2	NM_024675.3(PALB2):c.909C>T:p.Leu303=	coding	Benign/Likely_benign
16	23635678	C	A	C23635678A	PALB2	NM_024675.3(PALB2):c.868G>T:p.Glu290Ter	coding	Pathogenic
16	23635692	G	C	G23635692C	PALB2	NM_024675.3(PALB2):c.854C>G:p.Ser285Ter	coding	Pathogenic
16	23635732	C	A	C23635732A	PALB2	NM_024675.3(PALB2):c.814G>T:p.Glu272Ter	coding	Pathogenic
16	23635768	G	A	G23635768A	PALB2	NM_024675.3(PALB2):c.778C>T:p.Gln260Ter	coding	Pathogenic
16	23635781	A	G	A23635781G	PALB2	NM_024675.3(PALB2):c.765T>C:p.Asp255=	coding	Benign/Likely_benign
16	23635785	G	C	G23635785C	PALB2	NM_024675.3(PALB2):c.761C>G:p.Ser254Ter	coding	Pathogenic/Likely_pathogenic
16	23635785	G	T	G23635785T	PALB2	NM_024675.3(PALB2):c.761C>A:p.Ser254Ter	coding	Pathogenic
16	23635795	G	A	G23635795A	PALB2	NM_024675.3(PALB2):c.751C>T:p.Gln251Ter	coding	Pathogenic
16	23635825	T	C	T23635825C	PALB2	NM_024675.3(PALB2):c.721A>G:p.Asn241Asp	coding	Benign/Likely_benign
16	23635834	T	A	T23635834A	PALB2	NM_024675.4(PALB2):c.712A>T:p.Arg238Ter	coding	Pathogenic
16	23635858	C	A	C23635858A	PALB2	NM_024675.3(PALB2):c.688G>T:p.Glu230Ter	coding	Pathogenic
16	23635864	G	A	G23635864A	PALB2	NM_024675.3(PALB2):c.682C>T:p.Gln228Ter	coding	Pathogenic
16	23635903	C	A	C23635903A	PALB2	NM_024675.3(PALB2):c.643G>T:p.Glu215Ter	coding	Pathogenic
16	23636005	C	A	C23636005A	PALB2	NM_024675.3(PALB2):c.541G>T:p.Glu181Ter	coding	Pathogenic
16	23636008	C	A	C23636008A	PALB2	NM_024675.4(PALB2):c.538G>T:p.Glu180Ter	coding	Pathogenic
16	23636034	A	T	A23636034T	PALB2	NM_024675.3(PALB2):c.512T>A:p.Leu171Ter	coding	Pathogenic
16	23636043	G	C	G23636043C	PALB2	NM_024675.4(PALB2):c.503C>G:p.Ser168Ter	coding	Pathogenic
16	23636043	G	T	G23636043T	PALB2	NM_024675.3(PALB2):c.503C>A:p.Ser168Ter	coding	Pathogenic/Likely_pathogenic
16	23636071	C	A	C23636071A	PALB2	NM_024675.3(PALB2):c.475G>T:p.Glu159Ter	coding	Pathogenic/Likely_pathogenic
16	23636095	G	A	G23636095A	PALB2	NM_024675.3(PALB2):c.451C>T:p.Gln151Ter	coding	Pathogenic
16	23636122	T	A	T23636122A	PALB2	NM_024675.3(PALB2):c.424A>T:p.Lys142Ter	coding	Pathogenic
16	23636199	A	T	A23636199T	PALB2	NM_024675.3(PALB2):c.347T>A:p.Leu116Ter	coding	Pathogenic
16	23636203	C	A	C23636203A	PALB2	NM_024675.4(PALB2):c.343G>T:p.Gly115Ter	coding	Pathogenic
16	23636323	T	A	T23636323A	PALB2	NM_024675.3(PALB2):c.223A>T:p.Lys75Ter	coding	Pathogenic
16	23636336	T	G	T23636336G	PALB2	NM_024675.3(PALB2):c.212-2A>C	noncoding	Pathogenic/Likely_pathogenic
16	23636367	T	G	T23636367G	PALB2	NM_024675.4(PALB2):c.212-33A>C	noncoding	Benign
16	23636392	T	G	T23636392G	PALB2	NM_024675.3(PALB2):c.212-58A>C	noncoding	Benign/Likely_benign
16	23637865	G	A	G23637865A	PALB2	NM_024675.3(PALB2):c.196C>T:p.Gln66Ter	coding	Pathogenic/Likely_pathogenic
16	23637866	C	T	C23637866T	PALB2	NM_024675.3(PALB2):c.195G>A:p.Pro65=	coding	Benign/Likely_benign
16	23637880	G	A	G23637880A	PALB2	NM_024675.4(PALB2):c.181C>T:p.Gln61Ter	coding	Pathogenic
16	23637883	G	A	G23637883A	PALB2	NM_024675.3(PALB2):c.178C>T:p.Gln60Ter	coding	Pathogenic/Likely_pathogenic
16	23637898	G	A	G23637898A	PALB2	NM_024675.3(PALB2):c.163C>T:p.Gln55Ter	coding	Pathogenic
16	23637946	G	A	G23637946A	PALB2	NM_024675.3(PALB2):c.115C>T:p.Gln39Ter	coding	Pathogenic
16	23638058	C	T	C23638058T	PALB2	NM_024675.3(PALB2):c.108+12G>A	noncoding	Benign/Likely_benign
16	23638072	G	A	G23638072A	PALB2	NM_024675.3(PALB2):c.106C>T:p.Gln36Ter	coding	Pathogenic
16	23638099	C	A	C23638099A	PALB2	NM_024675.3(PALB2):c.79G>T:p.Glu27Ter	coding	Pathogenic
16	23638105	T	A	T23638105A	PALB2	NM_024675.3(PALB2):c.73A>T:p.Lys25Ter	coding	Pathogenic
16	23638116	A	C	A23638116C	PALB2	NM_024675.3(PALB2):c.62T>G:p.Leu21Ter	coding	Pathogenic/Likely_pathogenic
16	23638128	A	C	A23638128C	PALB2	NM_024675.4(PALB2):c.50T>G:p.Leu17Ter	coding	Pathogenic
16	23638294	G	C	G23638294C	PALB2	NM_024675.3(PALB2):c.49-165C>G	noncoding	Benign
16	23641109	C	A	C23641109A	PALB2	NM_024675.4(PALB2):c.48+1G>T	noncoding	Pathogenic
16	23641112	T	C	T23641112C	PALB2	NM_024675.4(PALB2):c.46A>G:p.Lys16Glu	coding	Benign
16	23641115	C	A	C23641115A	PALB2	NM_024675.4(PALB2):c.43G>T:p.Glu15Ter	coding	Pathogenic
16	23641121	C	A	C23641121A	PALB2	NM_024675.4(PALB2):c.37G>T:p.Glu13Ter	coding	Pathogenic
16	23641151	C	A	C23641151A	PALB2	NM_024675.4(PALB2):c.7G>T:p.Glu3Ter	coding	Pathogenic
16	23641204	C	T	C23641204T	PALB2	NM_024675.3(PALB2):c.-47G>A	noncoding	Benign
16	23641516	C	G	C23641516G	PALB2	NM_032486.4(DCTN5):c.-27C>G	noncoding	Benign
16	23680095	G	A	G23680095A	PLK1	NM_005030.6(PLK1):c.420G>A:p.Glu140=	coding	Benign
16	23700648	A	G	A23700648G	ERN2	NM_033266.4(ERN2):c.1416T>C:p.Phe472=	coding	Benign
16	23710544	C	T	C23710544T	ERN2	NM_033266.4(ERN2):c.205G>A:p.Val69Ile	coding	Benign
16	23836262	G	A	G23836262A	PRKCB	NM_002738.7(PRKCB):c.87G>A:p.Lys29=	coding	Benign
16	23836337	C	T	C23836337T	PRKCB	NM_002738.7(PRKCB):c.162C>T:p.Thr54=	coding	Benign
16	23988577	G	T	G23988577T	PRKCB	NM_002738.7(PRKCB):c.275G>T:p.Gly92Val	coding	Pathogenic
16	24035540	T	C	T24035540C	PRKCB	NM_002738.7(PRKCB):c.522T>C:p.Ile174=	coding	Benign
16	24094178	G	A	G24094178A	PRKCB	NM_002738.7(PRKCB):c.702G>A:p.Ser234=	coding	Benign
16	24180786	A	G	A24180786G	PRKCB	NM_002738.7(PRKCB):c.1395-4A>G	noncoding	Benign
16	24191086	G	A	G24191086A	PRKCB	NM_002738.7(PRKCB):c.1723-4G>A	noncoding	Benign
16	24777228	G	A	G24777228A	TNRC6A	NM_014494.4(TNRC6A):c.459G>A:p.Gln153=	coding	Benign
16	24790317	A	G	A24790317G	TNRC6A	NM_014494.4(TNRC6A):c.1675A>G:p.Met559Val	coding	Benign
16	24791045	G	A	G24791045A	TNRC6A	NM_014494.4(TNRC6A):c.2403G>A:p.Gln801=	coding	Benign
16	24791651	T	C	T24791651C	TNRC6A	NM_014494.4(TNRC6A):c.3009T>C:p.Asp1003=	coding	Benign
16	24806293	G	A	G24806293A	TNRC6A	NM_014494.4(TNRC6A):c.4329+10G>A	noncoding	Benign
16	25217245	G	A	G25217245A	AQP8	NM_001169.3(AQP8):c.60G>A:p.Pro20=	coding	Benign
16	25224403	G	A	G25224403A	AQP8	NM_001169.3(AQP8):c.429G>A:p.Ala143=	coding	Benign
16	25227119	G	A	G25227119A	AQP8	NM_001169.3(AQP8):c.654G>A:p.Ala218=	coding	Benign
16	27342158	C	T	C27342158T	IL4R	NM_000418.4(IL4R):c.108C>T:p.Ser36=	coding	Benign
16	27342268	G	C	G27342268C	IL4R	NM_000418.4(IL4R):c.209+9G>C	noncoding	Benign
16	27344896	C	T	C27344896T	IL4R	NM_000418.4(IL4R):c.237C>T:p.Asn79=	coding	Benign
16	27344950	T	C	T27344950C	IL4R	NM_000418.4(IL4R):c.291T>C:p.Asp97=	coding	Benign
16	27355905	C	G	C27355905G	IL4R	NM_000418.4(IL4R):c.768C>G:p.Thr256=	coding	Benign
16	27358957	G	A	G27358957A	IL4R	NM_000418.4(IL4R):c.812G>A:p.Arg271His	coding	Benign
16	27358967	C	G	C27358967G	IL4R	NM_000418.4(IL4R):c.822C>G:p.Leu274=	coding	Benign
16	27362826	G	A	G27362826A	IL4R	NM_000418.4(IL4R):c.1474G>A:p.Ala492Thr	coding	Benign
16	27363087	G	A	G27363087A	IL4R	NM_000418.4(IL4R):c.1735G>A:p.Val579Ile	coding	Benign
16	27363708	T	C	T27363708C	IL4R	NM_000418.4(IL4R):c.2356T>C:p.Ser786Pro	coding	Benign
16	27442969	G	A	G27442969A	IL21R	NM_181078.3(IL21R):c.360G>A:p.Pro120=	coding	Benign
16	27444565	A	G	A27444565G	IL21R	NM_181078.3(IL21R):c.531A>G:p.Ser177=	coding	Benign
16	27444636	G	A	G27444636A	IL21R	NM_181078.3(IL21R):c.602G>A:p.Arg201Gln	coding	Pathogenic
16	27444636	G	T	G27444636T	IL21R	NM_181078.3(IL21R):c.602G>T:p.Arg201Leu	coding	Pathogenic
16	27448620	C	G	C27448620G	IL21R	NM_181078.3(IL21R):c.954C>G:p.Ser318Arg	coding	Benign
16	27448698	C	T	C27448698T	IL21R	NM_181078.3(IL21R):c.1032C>T:p.Asp344=	coding	Benign
16	27449116	G	A	G27449116A	IL21R	NM_181078.3(IL21R):c.1450G>A:p.Gly484Ser	coding	Benign
16	27449133	G	A	G27449133A	IL21R	NM_181078.3(IL21R):c.1467G>A:p.Thr489=	coding	Benign
16	27449211	C	G	C27449211G	IL21R	NM_181078.3(IL21R):c.1545C>G:p.Pro515=	coding	Benign
16	27449250	G	A	G27449250A	IL21R	NM_181078.3(IL21R):c.1584G>A:p.Pro528=	coding	Benign
16	27462348	C	T	C27462348T	GTF3C1	NM_001520.4(GTF3C1):c.6063G>A:p.Leu2021=	coding	Benign
16	27464527	G	C	G27464527C	GTF3C1	NM_001520.4(GTF3C1):c.5665C>G:p.Gln1889Glu	coding	Benign
16	27464620	G	C	G27464620C	GTF3C1	NM_001520.4(GTF3C1):c.5572C>G:p.Arg1858Gly	coding	Benign
16	27488579	C	T	C27488579T	GTF3C1	NM_001520.4(GTF3C1):c.3486G>A:p.Lys1162=	coding	Benign
16	27494847	G	A	G27494847A	GTF3C1	NM_001520.4(GTF3C1):c.2694C>T:p.Phe898=	coding	Benign
16	27498727	G	A	G27498727A	GTF3C1	NM_001520.4(GTF3C1):c.2068C>T:p.Leu690=	coding	Benign
16	27505926	G	A	G27505926A	GTF3C1	NM_001520.4(GTF3C1):c.1743C>T:p.Ile581=	coding	Benign
16	27508575	G	A	G27508575A	GTF3C1	NM_001520.4(GTF3C1):c.1207C>T:p.Leu403=	coding	Benign
16	27508661	A	G	A27508661G	GTF3C1	NM_001520.4(GTF3C1):c.1127-6T>C	noncoding	Benign
16	27573920	C	G	C27573920G	KATNIP	NM_015202.4(KATNIP):c.27C>G:p.Ala9=	coding	Benign
16	27628729	C	G	C27628729G	KATNIP	NM_015202.4(KATNIP):c.209C>G:p.Ser70Cys	coding	Benign
16	27628766	A	G	A27628766G	KATNIP	NM_015202.4(KATNIP):c.246A>G:p.Ser82=	coding	Benign
16	27648710	A	G	A27648710G	KATNIP	NM_015202.4(KATNIP):c.515A>G:p.Asn172Ser	coding	Benign
16	27677816	G	T	G27677816T	KATNIP	NM_015202.4(KATNIP):c.628G>T:p.Asp210Tyr	coding	Benign
16	27677877	G	A	G27677877A	KATNIP	NM_015202.4(KATNIP):c.689G>A:p.Arg230His	coding	Benign
16	27681413	A	C	A27681413C	KATNIP	NM_015202.4(KATNIP):c.823A>C:p.Arg275=	coding	Benign
16	27698403	A	T	A27698403T	KATNIP	NM_015202.4(KATNIP):c.1016A>T:p.Asp339Val	coding	Benign
16	27698476	C	T	C27698476T	KATNIP	NM_015202.4(KATNIP):c.1089C>T:p.Ala363=	coding	Benign
16	27698485	A	G	A27698485G	KATNIP	NM_015202.4(KATNIP):c.1098A>G:p.Pro366=	coding	Benign
16	27698491	C	T	C27698491T	KATNIP	NM_015202.4(KATNIP):c.1104C>T:p.Ser368=	coding	Benign
16	27698505	G	A	G27698505A	KATNIP	NM_015202.4(KATNIP):c.1113+5G>A	noncoding	Benign
16	27698510	G	T	G27698510T	KATNIP	NM_015202.4(KATNIP):c.1113+10G>T	noncoding	Benign
16	27703912	C	T	C27703912T	KATNIP	NM_015202.4(KATNIP):c.1303C>T:p.Leu435=	coding	Benign
16	27703963	G	A	G27703963A	KATNIP	NM_015202.4(KATNIP):c.1354G>A:p.Val452Ile	coding	Benign
16	27708722	G	A	G27708722A	KATNIP	NM_015202.4(KATNIP):c.1407G>A:p.Arg469=	coding	Benign
16	27708902	C	T	C27708902T	KATNIP	NM_015202.4(KATNIP):c.1587C>T:p.Leu529=	coding	Benign
16	27721682	G	A	G27721682A	KATNIP	NM_015202.5(KATNIP):c.1730G>A:p.Trp577Ter	coding	Pathogenic
16	27740061	G	A	G27740061A	KATNIP	NM_015202.4(KATNIP):c.1764G>A:p.Lys588=	coding	Benign
16	27740208	G	A	G27740208A	KATNIP	NM_015202.4(KATNIP):c.1911G>A:p.Ser637=	coding	Benign
16	27740318	A	C	A27740318C	KATNIP	NM_015202.4(KATNIP):c.2021A>C:p.Gln674Pro	coding	Benign
16	27740427	C	T	C27740427T	KATNIP	NM_015202.4(KATNIP):c.2130C>T:p.Asp710=	coding	Benign
16	27740472	T	C	T27740472C	KATNIP	NM_015202.4(KATNIP):c.2175T>C:p.Pro725=	coding	Benign
16	27740549	C	T	C27740549T	KATNIP	NM_015202.4(KATNIP):c.2252C>T:p.Thr751Ile	coding	Benign
16	27740574	C	T	C27740574T	KATNIP	NM_015202.4(KATNIP):c.2277C>T:p.Pro759=	coding	Benign
16	27740663	C	T	C27740663T	KATNIP	NM_015202.4(KATNIP):c.2366C>T:p.Pro789Leu	coding	Benign
16	27749769	G	T	G27749769T	KATNIP	NM_015202.4(KATNIP):c.2809G>T:p.Asp937Tyr	coding	Benign
16	27749888	C	T	C27749888T	KATNIP	NM_015202.4(KATNIP):c.2928C>T:p.Arg976=	coding	Benign
16	27749975	G	A	G27749975A	KATNIP	NM_015202.4(KATNIP):c.3015G>A:p.Pro1005=	coding	Benign
16	27750224	C	T	C27750224T	KATNIP	NM_015202.4(KATNIP):c.3264C>T:p.Gly1088=	coding	Benign
16	27751864	G	A	G27751864A	KATNIP	NM_015202.4(KATNIP):c.3492G>A:p.Thr1164=	coding	Benign
16	27754181	G	A	G27754181A	KATNIP	NM_015202.4(KATNIP):c.3561G>A:p.Glu1187=	coding	Benign
16	27754214	A	G	A27754214G	KATNIP	NM_015202.4(KATNIP):c.3594A>G:p.Gln1198=	coding	Benign
16	27761424	A	G	A27761424G	KATNIP	NM_015202.4(KATNIP):c.3643A>G:p.Asn1215Asp	coding	Benign
16	27761500	C	T	C27761500T	KATNIP	NM_015202.4(KATNIP):c.3719C>T:p.Ala1240Val	coding	Benign
16	27761570	C	T	C27761570T	KATNIP	NM_015202.4(KATNIP):c.3789C>T:p.Asp1263=	coding	Benign
16	27766412	G	A	G27766412A	KATNIP	NM_015202.4(KATNIP):c.3913G>A:p.Glu1305Lys	coding	Benign
16	27766427	C	T	C27766427T	KATNIP	NM_015202.4(KATNIP):c.3928C>T:p.Leu1310=	coding	Benign
16	27769911	G	C	G27769911C	KATNIP	NM_015202.4(KATNIP):c.4026G>C:p.Glu1342Asp	coding	Benign
16	27774991	C	T	C27774991T	KATNIP	NM_015202.4(KATNIP):c.4356C>T:p.Gly1452=	coding	Benign
16	28106166	C	T	C28106166T	XPO6	NM_015171.4(XPO6):c.2661G>A:p.Arg887=	coding	Benign
16	28477622	T	C	T28477622C	CLN3	NM_000086.2(CLN3):c.1211A>G:p.His404Arg	coding	Benign
16	28477636	C	A	C28477636A	CLN3	NM_000086.2(CLN3):c.1198-1G>T	coding	Pathogenic
16	28477724	G	A	G28477724A	CLN3	NM_000086.2(CLN3):c.1197+13C>T	noncoding	Benign
16	28477729	A	G	A28477729G	CLN3	NM_000086.2(CLN3):c.1197+8T>C	noncoding	Benign/Likely_benign
16	28477735	A	T	A28477735T	CLN3	NM_001042432.2(CLN3):c.1197+2T>A	noncoding	Pathogenic
16	28477739	C	A	C28477739A	CLN3	NM_000086.2(CLN3):c.1195G>T:p.Glu399Ter	coding	Pathogenic/Likely_pathogenic
16	28477875	G	T	G28477875T	CLN3	NM_000086.2(CLN3):c.1059C>A:p.Cys353Ter	coding	Pathogenic/Likely_pathogenic
16	28477932	G	A	G28477932A	CLN3	NM_000086.2(CLN3):c.1057-55C>T	noncoding	Benign
16	28478021	G	A	G28478021A	CLN3	NM_000086.2(CLN3):c.1057-144C>T	noncoding	Benign
16	28482107	G	A	G28482107A	CLN3	NM_000086.2(CLN3):c.1054C>T:p.Gln352Ter	coding	Pathogenic
16	28482160	C	T	C28482160T	CLN3	NM_000086.2(CLN3):c.1001G>A:p.Arg334His	coding	Pathogenic/Likely_pathogenic
16	28482161	G	A	G28482161A	CLN3	NM_000086.2(CLN3):c.1000C>T:p.Arg334Cys	coding	Pathogenic/Likely_pathogenic
16	28482186	C	T	C28482186T	CLN3	NM_000086.2(CLN3):c.975G>A:p.Leu325=	coding	Benign/Likely_benign
16	28482214	G	C	G28482214C	CLN3	NM_000086.2(CLN3):c.963-16C>G	noncoding	Benign
16	28482340	G	A	G28482340A	CLN3	NM_000086.2(CLN3):c.949C>T:p.Gln317Ter	coding	Pathogenic
16	28482475	A	T	A28482475T	CLN3	NM_000086.2(CLN3):c.906+2T>A	noncoding	Pathogenic
16	28482500	C	A	C28482500A	CLN3	NM_000086.2(CLN3):c.883G>T:p.Glu295Ter	coding	Pathogenic/Likely_pathogenic
16	28482500	C	T	C28482500T	CLN3	NM_000086.2(CLN3):c.883G>A:p.Glu295Lys	coding	Pathogenic
16	28483990	G	T	G28483990T	CLN3	NM_000086.2(CLN3):c.790+16C>A	noncoding	Benign
16	28484012	T	A	T28484012A	CLN3	NM_000086.2(CLN3):c.784A>T:p.Lys262Ter	coding	Pathogenic
16	28484025	C	T	C28484025T	CLN3	NM_000086.2(CLN3):c.771G>A:p.Glu257=	coding	Benign
16	28484136	G	T	G28484136T	CLN3	NM_000086.2(CLN3):c.678-18C>A	noncoding	Benign
16	28486393	G	A	G28486393A	CLN3	NM_000086.2(CLN3):c.631C>T:p.Gln211Ter	coding	Pathogenic/Likely_pathogenic
16	28486427	G	T	G28486427T	CLN3	NM_000086.2(CLN3):c.597C>A:p.Tyr199Ter	coding	Pathogenic/Likely_pathogenic
16	28486617	C	T	C28486617T	CLN3	NM_000086.2(CLN3):c.494G>A:p.Gly165Glu	coding	Pathogenic
16	28487718	G	A	G28487718A	CLN3	NM_000086.2(CLN3):c.318C>T:p.Leu106=	coding	Benign/Likely_benign
16	28487723	T	C	T28487723C	CLN3	NM_000086.2(CLN3):c.313A>G:p.Ile105Val	coding	Benign/Likely_benign
16	28487758	G	A	G28487758A	CLN3	NM_000086.2(CLN3):c.295-17C>T	noncoding	Benign
16	28488615	A	G	A28488615G	CLN3	NM_000086.2(CLN3):c.270T>C:p.Phe90=	coding	Benign
16	28488621	T	G	T28488621G	CLN3	NM_000086.2(CLN3):c.264A>C:p.Ser88=	coding	Benign/Likely_benign
16	28488645	C	T	C28488645T	CLN3	NM_000086.2(CLN3):c.240G>A:p.Thr80=	coding	Benign/Likely_benign
16	28489298	G	A	G28489298A	CLN3	NM_000086.2(CLN3):c.214C>T:p.Gln72Ter	coding	Pathogenic/Likely_pathogenic
16	28489338	G	A	G28489338A	CLN3	NM_000086.2(CLN3):c.174C>T:p.Ala58=	coding	Benign/Likely_benign
16	28491502	C	T	C28491502T	CLN3	NM_000086.2(CLN3):c.105G>A:p.Trp35Ter	coding	Pathogenic
16	28491651	T	C	T28491651C	CLN3	NM_000086.2(CLN3):c.46+63A>G	noncoding	Benign
16	28491839	C	A	C28491839A	CLN3	NM_000086.2(CLN3):c.-80G>T	noncoding	Benign
16	28491935	C	T	C28491935T	CLN3	NM_000086.2(CLN3):c.-176G>A	noncoding	Benign
16	28497461	A	C	A28497461C	APOBR	NM_018690.4(APOBR):c.2420A>C:p.Gln807Pro	coding	Benign
16	28723156	G	T	G28723156T	EIF3C	NM_003752.5(EIF3C):c.777-8G>T	noncoding	Benign
16	28825688	G	A	G28825688A	ATXN2L	NM_148414.2(ATXN2L):c.393+8G>A	noncoding	Benign
16	28834672	C	T	C28834672T	ATXN2L	NM_148414.2(ATXN2L):c.2412C>T:p.Pro804=	coding	Benign
16	28842675	A	C	A28842675C	TUFM	NM_003321.5(TUFM):c.*300T>G	noncoding	Benign
16	28842951	G	A	G28842951A	TUFM	NM_003321.5(TUFM):c.*24C>T	noncoding	Benign
16	28843448	A	G	A28843448G	TUFM	NM_003321.5(TUFM):c.1194+288T>C	noncoding	Benign
16	28844008	C	T	C28844008T	TUFM	NM_003321.5(TUFM):c.1016G>A:p.Arg339Gln	coding	Pathogenic
16	28844214	G	A	G28844214A	TUFM	NM_003321.5(TUFM):c.922+16C>T	noncoding	Benign
16	28844406	A	G	A28844406G	TUFM	NM_003321.5(TUFM):c.817+13T>C	noncoding	Benign
16	28844692	G	A	G28844692A	TUFM	NM_003321.5(TUFM):c.684+6C>T	noncoding	Benign/Likely_benign
16	28844870	T	A	T28844870A	TUFM	NM_003321.5(TUFM):c.520-8A>T	noncoding	Benign/Likely_benign
16	28845030	A	T	A28845030T	TUFM	NM_003321.5(TUFM):c.440T>A:p.Leu147His	coding	Pathogenic
16	28845961	G	A	G28845961A	TUFM	NM_003321.5(TUFM):c.198C>T:p.Ile66=	coding	Benign
16	28846087	G	A	G28846087A	TUFM	NM_003321.5(TUFM):c.72C>T:p.Thr24=	coding	Benign/Likely_benign
16	28846303	G	A	G28846303A	TUFM	NM_003321.5(TUFM):c.-34C>T	noncoding	Benign
16	28846324	A	G	A28846324G	TUFM	NM_003321.5(TUFM):c.-55T>C	noncoding	Benign
16	28873442	T	C	T28873442C	SH2B1	NM_001145795.1(SH2B1):c.1898-5T>C	noncoding	Benign
16	28873537	C	T	C28873537T	SH2B1	NM_001145795.1(SH2B1):c.1988C>T:p.Ala663Val	coding	Benign
16	28873736	G	T	G28873736T	SH2B1	NM_001145795.1(SH2B1):c.2187G>T:p.Val729=	coding	Benign
16	28873787	C	G	C28873787G	SH2B1	NM_001145795.1(SH2B1):c.2238C>G:p.Pro746=	coding	Benign
16	28878165	C	A	C28878165A	ATP2A1	NC_000016.10:g.28878165C>A	noncoding	Benign
16	28878650	C	T	C28878650T	ATP2A1	NM_173201.4(ATP2A1):c.-22C>T	noncoding	Benign
16	28878810	C	A	C28878810A	ATP2A1	NM_173201.4(ATP2A1):c.118+21C>A	noncoding	Benign
16	28879523	G	A	G28879523A	ATP2A1	NM_004320.5(ATP2A1):c.159G>A:p.Val53=	coding	Benign
16	28884339	G	A	G28884339A	ATP2A1	NM_173201.4(ATP2A1):c.464-236G>A	noncoding	Benign
16	28884350	C	T	C28884350T	ATP2A1	NM_173201.4(ATP2A1):c.464-225C>T	noncoding	Benign
16	28884601	C	T	C28884601T	ATP2A1	NM_004320.6(ATP2A1):c.490C>T:p.Arg164Ter	coding	Pathogenic
16	28884694	C	T	C28884694T	ATP2A1	NM_173201.4(ATP2A1):c.544+39C>T	noncoding	Benign
16	28887236	C	T	C28887236T	ATP2A1	NM_004320.5(ATP2A1):c.592C>T:p.Arg198Ter	coding	Pathogenic
16	28887472	T	C	T28887472C	ATP2A1	NM_004320.5(ATP2A1):c.678T>C:p.Thr226=	coding	Benign
16	28887633	A	G	A28887633G	ATP2A1	NM_173201.4(ATP2A1):c.839A>G:p.Asn280Ser	coding	Benign/Likely_benign
16	28887664	C	T	C28887664T	ATP2A1	NM_173201.4(ATP2A1):c.870C>T:p.Arg290=	coding	Benign/Likely_benign
16	28894244	G	A	G28894244A	ATP2A1	NM_173201.4(ATP2A1):c.1184+1G>A	coding	Pathogenic/Likely_pathogenic
16	28894763	G	C	G28894763C	ATP2A1	NM_173201.4(ATP2A1):c.1288-59G>C	noncoding	Benign
16	28898071	T	G	T28898071G	ATP2A1	NM_173201.4(ATP2A1):c.1491T>G:p.Tyr497Ter	coding	Pathogenic
16	28898301	G	A	G28898301A	ATP2A1	NM_173201.4(ATP2A1):c.1614G>A:p.Thr538=	coding	Benign
16	28898306	C	T	C28898306T	ATP2A1	NM_173201.4(ATP2A1):c.1619C>T:p.Pro540Leu	coding	Benign
16	28898404	C	T	C28898404T	ATP2A1	NM_004320.6(ATP2A1):c.1717C>T:p.Arg573Ter	coding	Pathogenic
16	28900625	G	A	G28900625A	ATP2A1	NM_173201.4(ATP2A1):c.1809G>A:p.Pro603=	coding	Benign
16	28900764	G	A	G28900764A	ATP2A1	NM_173201.4(ATP2A1):c.1948G>A:p.Asp650Asn	coding	Benign/Likely_benign
16	28900790	C	T	C28900790T	ATP2A1	NM_173201.4(ATP2A1):c.1974C>T:p.Phe658=	coding	Benign/Likely_benign
16	28900841	C	A	C28900841A	ATP2A1	NM_004320.5(ATP2A1):c.2025C>A:p.Cys675Ter	coding	Pathogenic
16	28901855	T	G	T28901855G	ATP2A1	NM_173201.4(ATP2A1):c.2101-8T>G	noncoding	Benign
16	28902073	G	T	G28902073T	ATP2A1	NM_173201.4(ATP2A1):c.2311G>T:p.Glu771Ter	coding	Pathogenic
16	28902228	C	T	C28902228T	ATP2A1	NM_004320.5(ATP2A1):c.2366C>T:p.Pro789Leu	coding	Pathogenic
16	28902233	C	T	C28902233T	ATP2A1	NM_173201.4(ATP2A1):c.2371C>T:p.Gln791Ter	coding	Pathogenic
16	28902389	G	T	G28902389T	ATP2A1	NM_004320.5(ATP2A1):c.2524+3G>T	noncoding	Benign
16	28902466	T	C	T28902466C	ATP2A1	NM_173201.4(ATP2A1):c.2524+80T>C	noncoding	Benign
16	28902705	G	A	G28902705A	ATP2A1	NM_173201.4(ATP2A1):c.2610+40G>A	noncoding	Benign
16	28903043	C	T	C28903043T	ATP2A1	NM_004320.5(ATP2A1):c.2758C>T:p.Gln920Ter	coding	Pathogenic/Likely_pathogenic
16	28903565	G	T	G28903565T	ATP2A1	NM_173201.4(ATP2A1):c.2980+125G>T	noncoding	Benign
16	28903896	G	A	G28903896A	ATP2A1	NM_173201.4(ATP2A1):c.2981-284G>A	noncoding	Benign
16	28904112	A	C	A28904112C	ATP2A1	NM_173201.4(ATP2A1):c.2981-68A>C	noncoding	Benign
16	28904206	G	A	G28904206A	ATP2A1	NM_004320.5(ATP2A1):c.*64G>A	coding	Benign
16	28904503	C	T	C28904503T	ATP2A1	NM_024816.3(RABEP2):c.*440G>A	noncoding	Benign
16	28905054	C	T	C28905054T	RABEP2	NM_024816.3(RABEP2):c.1609-10G>A	noncoding	Benign
16	28908723	T	C	T28908723C	RABEP2	NM_024816.3(RABEP2):c.1131A>G:p.Val377=	coding	Benign
16	28932413	G	C	G28932413C	CD19	NM_001770.5(CD19):c.156G>C:p.Trp52Cys	coding	Pathogenic
16	28932961	C	T	C28932961T	CD19	NM_001770.5(CD19):c.406C>T:p.Leu136=	coding	Benign/Likely_benign
16	28933075	C	G	C28933075G	CD19	NM_001770.6(CD19):c.520C>G:p.Leu174Val	coding	Benign
16	28933379	G	T	G28933379T	CD19	NM_001770.5(CD19):c.705G>T:p.Pro235=	coding	Benign
16	28936152	G	T	G28936152T	CD19	NM_001770.5(CD19):c.947-1G>T	noncoding	Pathogenic
16	28937462	C	T	C28937462T	CD19	NM_001770.5(CD19):c.1311C>T:p.Ser437=	coding	Benign/Likely_benign
16	28938730	G	A	G28938730A	CD19	NM_001770.6(CD19):c.1541G>A:p.Arg514His	coding	Benign
16	28983890	C	T	C28983890T	SPNS1	NM_032038.3(SPNS1):c.1425C>T:p.Gly475=	coding	Benign
16	28985404	G	A	G28985404A	LAT	NM_001014987.2(LAT):c.-14G>A	coding	Benign
16	29663793	C	T	C29663793T	SPN	NM_003123.6(SPN):c.65C>T:p.Thr22Ile	coding	Benign
16	29664005	A	G	A29664005G	SPN	NM_003123.6(SPN):c.277A>G:p.Thr93Ala	coding	Benign
16	29664376	C	T	C29664376T	SPN	NM_003123.6(SPN):c.648C>T:p.Ser216=	coding	Benign
16	29664403	C	T	C29664403T	SPN	NM_003123.6(SPN):c.675C>T:p.Ser225=	coding	Benign
16	29664525	C	T	C29664525T	SPN	NM_003123.6(SPN):c.797C>T:p.Ala266Val	coding	Benign
16	29664565	G	A	G29664565A	SPN	NM_003123.6(SPN):c.837G>A:p.Arg279=	coding	Benign
16	29780104	T	A	T29780104A	ZG16	NM_152338.4(ZG16):c.189T>A:p.Gly63=	coding	Benign
16	29790757	G	A	G29790757A	KIF22	NM_007317.3(KIF22):c.-3G>A	noncoding	Benign
16	29790771	C	T	C29790771T	KIF22	NM_007317.3(KIF22):c.12C>T:p.Gly4=	coding	Benign/Likely_benign
16	29796920	T	C	T29796920C	KIF22	NM_007317.3(KIF22):c.98T>C:p.Ile33Thr	coding	Benign
16	29798640	C	T	C29798640T	KIF22	NM_007317.3(KIF22):c.442C>T:p.Pro148Ser	coding	Pathogenic
16	29798641	C	T	C29798641T	KIF22	NM_007317.3(KIF22):c.443C>T:p.Pro148Leu	coding	Pathogenic/Likely_pathogenic
16	29798644	G	A	G29798644A	KIF22	NM_007317.3(KIF22):c.446G>A:p.Arg149Gln	coding	Pathogenic
16	29798644	G	T	G29798644T	KIF22	NM_007317.3(KIF22):c.446G>T:p.Arg149Leu	coding	Pathogenic
16	29799001	G	C	G29799001C	KIF22	NM_007317.3(KIF22):c.576G>C:p.Ser192=	coding	Benign
16	29799274	G	A	G29799274A	KIF22	NM_007317.3(KIF22):c.770G>A:p.Arg257Gln	coding	Benign
16	29799907	A	G	A29799907G	KIF22	NM_007317.3(KIF22):c.1145-6A>G	noncoding	Benign
16	29802885	G	A	G29802885A	KIF22	NM_007317.3(KIF22):c.1397G>A:p.Arg466Gln	coding	Benign/Likely_benign
16	29802913	G	A	G29802913A	KIF22	NM_007317.3(KIF22):c.1425G>A:p.Val475=	coding	Benign
16	29802941	C	T	C29802941T	KIF22	NM_007317.3(KIF22):c.1449+4C>T	noncoding	Benign
16	29803505	G	A	G29803505A	KIF22	NM_007317.3(KIF22):c.1506G>A:p.Glu502=	coding	Benign
16	29804873	G	A	G29804873A	KIF22	NM_007317.3(KIF22):c.1737G>A:p.Gln579=	coding	Benign
16	29804916	G	A	G29804916A	KIF22	NM_007317.3(KIF22):c.1780G>A:p.Asp594Asn	coding	Benign/Likely_benign
16	29804984	G	A	G29804984A	KIF22	NM_007317.3(KIF22):c.1848G>A:p.Gln616=	coding	Benign
16	29813279	G	A	G29813279A	PRRT2	NM_145239.3(PRRT2):c.225G>A:p.Pro75=	coding	Benign/Likely_benign
16	29813466	C	G	C29813466G	PRRT2	NM_145239.3(PRRT2):c.412C>G:p.Pro138Ala	coding	Benign
16	29813493	G	C	G29813493C	PRRT2	NM_145239.3(PRRT2):c.439G>C:p.Asp147His	coding	Benign
16	29813541	C	T	C29813541T	PRRT2	NM_145239.3(PRRT2):c.487C>T:p.Gln163Ter	coding	Pathogenic
16	29813616	C	T	C29813616T	PRRT2	NM_145239.3(PRRT2):c.562C>T:p.Gln188Ter	coding	Pathogenic
16	29813618	G	A	G29813618A	PRRT2	NM_145239.3(PRRT2):c.564G>A:p.Gln188=	coding	Benign/Likely_benign
16	29813666	C	G	C29813666G	PRRT2	NM_145239.3(PRRT2):c.612C>G:p.Pro204=	coding	Benign/Likely_benign
16	29813698	C	G	C29813698G	PRRT2	NM_145239.3(PRRT2):c.644C>G:p.Pro215Arg	coding	Benign/Likely_benign
16	29813699	C	T	C29813699T	PRRT2	NM_145239.3(PRRT2):c.645C>T:p.Pro215=	coding	Benign/Likely_benign
16	29813703	C	T	C29813703T	PRRT2	NM_145239.3(PRRT2):c.649C>T:p.Arg217Ter	coding	Pathogenic
16	29813715	C	T	C29813715T	PRRT2	NM_145239.3(PRRT2):c.661C>T:p.Gln221Ter	coding	Pathogenic
16	29813750	C	T	C29813750T	PRRT2	NM_145239.3(PRRT2):c.696C>T:p.His232=	coding	Benign
16	29813772	C	T	C29813772T	PRRT2	NM_145239.3(PRRT2):c.718C>T:p.Arg240Ter	coding	Pathogenic
16	29813802	C	T	C29813802T	PRRT2	NM_145239.3(PRRT2):c.748C>T:p.Gln250Ter	coding	Pathogenic
16	29813805	T	C	T29813805C	PRRT2	NM_145239.3(PRRT2):c.751T>C:p.Leu251=	coding	Benign
16	29813827	G	A	G29813827A	PRRT2	NM_145239.3(PRRT2):c.773G>A:p.Gly258Glu	coding	Benign/Likely_benign
16	29813850	C	T	C29813850T	PRRT2	NM_145239.3(PRRT2):c.796C>T:p.Arg266Trp	coding	Pathogenic
16	29813882	C	T	C29813882T	PRRT2	NM_145239.3(PRRT2):c.828C>T:p.Cys276=	coding	Benign/Likely_benign
16	29813897	G	A	G29813897A	PRRT2	NM_145239.3(PRRT2):c.843G>A:p.Trp281Ter	coding	Pathogenic
16	29813938	G	A	G29813938A	PRRT2	NM_145239.3(PRRT2):c.879+5G>A	coding	Pathogenic
16	29814299	G	A	G29814299A	PRRT2	NM_145239.3(PRRT2):c.880-34G>A	coding	Pathogenic
16	29814319	C	T	C29814319T	PRRT2	NM_145239.3(PRRT2):c.880-14C>T	coding	Benign
16	29814322	C	T	C29814322T	PRRT2	NM_145239.3(PRRT2):c.880-11C>T	coding	Benign
16	29814403	G	A	G29814403A	PRRT2	NM_145239.3(PRRT2):c.950G>A:p.Ser317Asn	coding	Pathogenic
16	29814412	C	T	C29814412T	PRRT2	NM_145239.3(PRRT2):c.959C>T:p.Ala320Val	coding	Pathogenic
16	29814413	G	A	G29814413A	PRRT2	NM_145239.3(PRRT2):c.960G>A:p.Ala320=	coding	Benign
16	29814423	G	A	G29814423A	PRRT2	NM_145239.3(PRRT2):c.970G>A:p.Gly324Arg	coding	Pathogenic
16	29814424	G	A	G29814424A	PRRT2	NM_145239.3(PRRT2):c.971G>A:p.Gly324Glu	coding	Pathogenic
16	29814649	C	T	C29814649T	PRRT2	NM_145239.3(PRRT2):c.*11C>T	noncoding	Benign
16	29819546	C	T	C29819546T	PAGR1	NM_024516.4(PAGR1):c.566-9C>T	noncoding	Benign
16	29830629	G	A	G29830629A	MVP	NM_005115.5(MVP):c.80G>A:p.Arg27His	coding	Benign
16	29840237	G	A	G29840237A	MVP	NM_005115.5(MVP):c.969G>A:p.Val323=	coding	Benign
16	29844761	G	A	G29844761A	MVP	NM_005115.5(MVP):c.1903G>A:p.Val635Ile	coding	Benign
16	29847961	A	G	A29847961G	MVP	NM_005115.5(MVP):c.2654A>G:p.Asp885Gly	coding	Benign
16	29873406	C	T	C29873406T	SEZ6L2	NM_012410.4(SEZ6L2):c.2112G>A:p.Pro704=	coding	Benign
16	29885668	G	A	G29885668A	SEZ6L2	NM_012410.4(SEZ6L2):c.1080C>T:p.Leu360=	coding	Benign
16	29885731	C	T	C29885731T	SEZ6L2	NM_012410.4(SEZ6L2):c.1017G>A:p.Gly339=	coding	Benign
16	29895443	C	G	C29895443G	SEZ6L2	NM_012410.4(SEZ6L2):c.459G>C:p.Leu153=	coding	Benign
16	29895452	C	T	C29895452T	SEZ6L2	NM_012410.4(SEZ6L2):c.450G>A:p.Thr150=	coding	Benign
16	29897064	G	A	G29897064A	SEZ6L2	NM_012410.4(SEZ6L2):c.212-153C>T	coding	Benign
16	29897091	G	A	G29897091A	SEZ6L2	NM_012410.4(SEZ6L2):c.212-180C>T	coding	Benign
16	29897111	C	T	C29897111T	SEZ6L2	NM_012410.4(SEZ6L2):c.212-200G>A	coding	Benign
16	29897950	C	T	C29897950T	SEZ6L2	NM_012410.4(SEZ6L2):c.114G>A:p.Glu38=	coding	Benign
16	29963426	T	C	T29963426C	TMEM219	NM_001083613.2(TMEM219):c.192T>C:p.Phe64=	coding	Benign
16	29968109	T	C	T29968109C	TMEM219	NM_001083613.2(TMEM219):c.440T>C:p.Val147Ala	coding	Benign
16	29978323	G	A	G29978323A	TAOK2	NM_016151.4(TAOK2):c.276G>A:p.Arg92=	coding	Benign
16	29985269	C	T	C29985269T	TAOK2	NM_016151.4(TAOK2):c.1479C>T:p.Ser493=	coding	Benign
16	29985362	G	A	G29985362A	TAOK2	NM_016151.4(TAOK2):c.1572G>A:p.Leu524=	coding	Benign
16	29986604	C	T	C29986604T	TAOK2	NM_016151.4(TAOK2):c.2332C>T:p.Pro778Ser	coding	Benign
16	29987599	G	A	G29987599A	TAOK2	NM_016151.4(TAOK2):c.3327G>A:p.Arg1109=	coding	Benign
16	29987893	C	T	C29987893T	TAOK2	NM_016151.4(TAOK2):c.3621C>T:p.Pro1207=	coding	Benign
16	30006215	G	C	G30006215C	DOC2A	NM_003586.3(DOC2A):c.1174C>G:p.Pro392Ala	coding	Benign
16	30006262	G	A	G30006262A	DOC2A	NM_003586.3(DOC2A):c.1127C>T:p.Pro376Leu	coding	Benign
16	30006952	C	T	C30006952T	DOC2A	NM_003586.3(DOC2A):c.715-4G>A	noncoding	Benign
16	30010081	C	T	C30010081T	DOC2A	NM_003586.3(DOC2A):c.142G>A:p.Gly48Ser	coding	Benign
16	30054946	G	A	G30054946A	ALDOA	NM_001365304.1(LOC112694756):c.150+19G>A	noncoding	Benign
16	30067586	A	G	A30067586G	ALDOA	NM_184043.2(ALDOA):c.249A>G:p.Thr83=	coding	Benign/Likely_benign
16	30067678	C	G	C30067678G	ALDOA	NM_184041.4(ALDOA):c.324+17C>G	noncoding	Benign/Likely_benign
16	30068802	C	A	C30068802A	ALDOA	NM_184041.4(ALDOA):c.380-16C>A	noncoding	Benign
16	30068824	A	G	A30068824G	ALDOA	NM_001365304.1(LOC112694756):c.*895A>G	coding	Pathogenic
16	30069384	G	A	G30069384A	ALDOA	NM_001365304.1(LOC112694756):c.*1128G>A	coding	Pathogenic
16	30069841	C	T	C30069841T	ALDOA	NM_001365304.1(LOC112694756):c.*1320C>T	coding	Benign/Likely_benign
16	30070046	G	T	G30070046T	ALDOA	NM_184043.2(ALDOA):c.999+17G>T	noncoding	Benign
16	30070155	C	T	C30070155T	ALDOA	NM_184043.2(ALDOA):c.1038C>T:p.Ser346=	coding	Benign/Likely_benign
16	30086225	T	A	T30086225A	TBX6	NM_004608.3(TBX6):c.1311A>T:p.Ter437Cys	coding	Pathogenic
16	30086309	C	T	C30086309T	TBX6	NM_004608.3(TBX6):c.1227G>A:p.Pro409=	coding	Benign
16	30086333	A	G	A30086333G	TBX6	NM_004608.3(TBX6):c.1203T>C:p.Ala401=	coding	Benign
16	30086387	C	T	C30086387T	TBX6	NM_004608.3(TBX6):c.1149G>A:p.Ser383=	coding	Benign
16	30086388	G	T	G30086388T	TBX6	NM_004608.4(TBX6):c.1148C>A:p.Ser383Ter	coding	Pathogenic
16	30086599	G	A	G30086599A	TBX6	NM_004608.3(TBX6):c.1010C>T:p.Pro337Leu	coding	Benign
16	30086701	G	A	G30086701A	TBX6	NM_004608.3(TBX6):c.914-6C>T	noncoding	Benign
16	30086782	G	A	G30086782A	TBX6	NM_004608.3(TBX6):c.909C>T:p.Ser303=	coding	Benign
16	30086824	T	C	T30086824C	TBX6	NM_004608.3(TBX6):c.867A>G:p.Lys289=	coding	Benign
16	30086847	G	A	G30086847A	TBX6	NM_004608.3(TBX6):c.844C>T:p.Arg282Ter	coding	Pathogenic
16	30088569	C	T	C30088569T	TBX6	NM_004608.3(TBX6):c.815G>A:p.Arg272Gln	coding	Benign
16	30088717	G	A	G30088717A	TBX6	NM_004608.3(TBX6):c.744C>T:p.Ser248=	coding	Benign/Likely_benign
16	30089060	C	T	C30089060T	TBX6	NM_004608.3(TBX6):c.504G>A:p.Leu168=	coding	Benign
16	30089080	C	T	C30089080T	TBX6	NM_004608.3(TBX6):c.484G>A:p.Gly162Ser	coding	Benign
16	30089081	G	A	G30089081A	TBX6	NM_004608.3(TBX6):c.483C>T:p.Ser161=	coding	Benign
16	30089097	C	A	C30089097A	TBX6	NM_004608.3(TBX6):c.467G>T:p.Arg156Leu	coding	Benign
16	30089146	G	A	G30089146A	TBX6	NM_004608.3(TBX6):c.418C>T:p.Leu140Phe	coding	Pathogenic
16	30089208	C	T	C30089208T	TBX6	NM_004608.3(TBX6):c.356G>A:p.Arg119His	coding	Pathogenic
16	30091070	G	A	G30091070A	TBX6	NM_004608.3(TBX6):c.118+6C>T	noncoding	Benign
16	30108204	C	A	C30108204A	GDPD3	NM_024307.3(GDPD3):c.819+9G>T	noncoding	Benign
16	30116903	C	T	C30116903T	MAPK3	NM_002746.3(MAPK3):c.1008G>A:p.Pro336=	coding	Benign
16	30186830	A	G	A30186830G	CORO1A	NM_007074.4(CORO1A):c.336A>G:p.Pro112=	coding	Benign
16	30186894	G	A	G30186894A	CORO1A	NM_007074.3(CORO1A):c.400G>A:p.Val134Met	coding	Pathogenic
16	30186953	G	A	G30186953A	CORO1A	NM_007074.4(CORO1A):c.451+8G>A	noncoding	Benign
16	30187483	G	A	G30187483A	CORO1A	NM_007074.4(CORO1A):c.738G>A:p.Gln246=	coding	Benign
16	30187772	C	T	C30187772T	CORO1A	NM_007074.3(CORO1A):c.804C>T:p.Ser268=	coding	Benign/Likely_benign
16	30187811	C	T	C30187811T	CORO1A	NM_007074.3(CORO1A):c.843C>T:p.Ile281=	coding	Benign/Likely_benign
16	30188258	C	T	C30188258T	CORO1A	NM_007074.3(CORO1A):c.1065+9C>T	noncoding	Benign
16	30188263	G	A	G30188263A	CORO1A	NM_007074.3(CORO1A):c.1065+14G>A	noncoding	Benign
16	30188392	C	A	C30188392A	CORO1A	NM_007074.3(CORO1A):c.1097C>A:p.Pro366His	coding	Benign
16	30188396	C	T	C30188396T	CORO1A	NM_007074.3(CORO1A):c.1101C>T:p.Thr367=	coding	Benign
16	30188441	T	C	T30188441C	CORO1A	NM_007074.4(CORO1A):c.1146T>C:p.Gly382=	coding	Benign
16	30479194	G	A	G30479194A	ITGAL	NM_002209.3(ITGAL):c.431G>A:p.Arg144His	coding	Benign
16	30484178	G	A	G30484178A	ITGAL	NM_002209.3(ITGAL):c.921G>A:p.Ala307=	coding	Benign
16	30489160	G	A	G30489160A	ITGAL	NM_002209.3(ITGAL):c.1080+5G>A	noncoding	Benign
16	30489395	T	G	T30489395G	ITGAL	NM_002209.3(ITGAL):c.1213+9T>G	noncoding	Benign
16	30510934	G	T	G30510934T	ITGAL	NM_002209.3(ITGAL):c.2673G>T:p.Ser891=	coding	Benign
16	30517822	G	A	G30517822A	ITGAL	NM_002209.3(ITGAL):c.3059G>A:p.Arg1020His	coding	Benign
16	30521608	C	T	C30521608T	ITGAL	NM_002209.3(ITGAL):c.3456C>T:p.Pro1152=	coding	Benign
16	30704198	C	G	C30704198G	SRCAP	NM_006662.3(SRCAP):c.189C>G:p.Pro63=	coding	Benign
16	30704319	C	T	C30704319T	SRCAP	NM_006662.3(SRCAP):c.306+4C>T	noncoding	Benign
16	30707176	T	C	T30707176C	SRCAP	NM_006662.3(SRCAP):c.307-7T>C	noncoding	Benign
16	30707552	C	T	C30707552T	SRCAP	NM_006662.3(SRCAP):c.493-20C>T	noncoding	Benign
16	30707721	T	C	T30707721C	SRCAP	NM_006662.3(SRCAP):c.633+9T>C	noncoding	Benign
16	30710843	G	C	G30710843C	SRCAP	NM_006662.3(SRCAP):c.1224G>C:p.Glu408Asp	coding	Benign
16	30711048	G	A	G30711048A	SRCAP	NM_006662.3(SRCAP):c.1278G>A:p.Glu426=	coding	Benign
16	30711827	C	A	C30711827A	SRCAP	NM_006662.3(SRCAP):c.1493-8C>A	noncoding	Benign
16	30711901	G	A	G30711901A	SRCAP	NM_006662.3(SRCAP):c.1559G>A:p.Ser520Asn	coding	Benign/Likely_benign
16	30716161	G	A	G30716161A	SRCAP	NM_006662.3(SRCAP):c.2589G>A:p.Lys863=	coding	Benign
16	30720822	T	C	T30720822C	SRCAP	NM_006662.3(SRCAP):c.3097T>C:p.Ser1033Pro	coding	Benign/Likely_benign
16	30721227	C	T	C30721227T	SRCAP	NM_006662.3(SRCAP):c.3292C>T:p.Arg1098Trp	coding	Benign
16	30721237	C	A	C30721237A	SRCAP	NM_006662.3(SRCAP):c.3302C>A:p.Thr1101Lys	coding	Benign/Likely_benign
16	30721323	C	T	C30721323T	SRCAP	NM_006662.3(SRCAP):c.3388C>T:p.Pro1130Ser	coding	Benign/Likely_benign
16	30721448	A	G	A30721448G	SRCAP	NM_006662.3(SRCAP):c.3513A>G:p.Leu1171=	coding	Benign
16	30722256	C	G	C30722256G	SRCAP	NM_006662.3(SRCAP):c.3676C>G:p.Leu1226Val	coding	Benign
16	30722279	G	A	G30722279A	SRCAP	NM_006662.3(SRCAP):c.3699G>A:p.Pro1233=	coding	Benign
16	30722724	A	G	A30722724G	SRCAP	NM_006662.3(SRCAP):c.3868A>G:p.Ser1290Gly	coding	Benign/Likely_benign
16	30723642	C	A	C30723642A	SRCAP	NM_006662.3(SRCAP):c.4218C>A:p.Ser1406=	coding	Benign
16	30723717	C	G	C30723717G	SRCAP	NM_006662.3(SRCAP):c.4293C>G:p.Val1431=	coding	Benign/Likely_benign
16	30723987	T	A	T30723987A	SRCAP	NM_006662.3(SRCAP):c.4563T>A:p.Pro1521=	coding	Benign
16	30724020	A	C	A30724020C	SRCAP	NM_006662.3(SRCAP):c.4596A>C:p.Ser1532=	coding	Benign
16	30724027	C	G	C30724027G	SRCAP	NM_006662.3(SRCAP):c.4603C>G:p.Pro1535Ala	coding	Benign/Likely_benign
16	30724430	C	T	C30724430T	SRCAP	NM_006662.3(SRCAP):c.5006C>T:p.Pro1669Leu	coding	Benign
16	30724827	C	T	C30724827T	SRCAP	NM_006662.3(SRCAP):c.5403C>T:p.Ala1801=	coding	Benign
16	30724955	C	G	C30724955G	SRCAP	NM_006662.3(SRCAP):c.5531C>G:p.Ser1844Cys	coding	Benign/Likely_benign
16	30725055	C	G	C30725055G	SRCAP	NM_006662.3(SRCAP):c.5631C>G:p.Pro1877=	coding	Benign
16	30729012	A	G	A30729012G	SRCAP	NM_006662.3(SRCAP):c.5705A>G:p.Glu1902Gly	coding	Benign/Likely_benign
16	30733886	C	A	C30733886A	SRCAP	NM_006662.3(SRCAP):c.6495-8C>A	noncoding	Benign/Likely_benign
16	30734595	C	T	C30734595T	SRCAP	NM_006662.3(SRCAP):c.6709C>T:p.Gln2237Ter	coding	Pathogenic
16	30736616	C	T	C30736616T	SRCAP	NM_006662.3(SRCAP):c.7000C>T:p.Gln2334Ter	coding	Pathogenic
16	30737197	A	G	A30737197G	SRCAP	NM_006662.3(SRCAP):c.7157A>G:p.Lys2386Arg	coding	Benign
16	30737295	C	T	C30737295T	SRCAP	NM_006662.3(SRCAP):c.7255C>T:p.Gln2419Ter	coding	Pathogenic
16	30737303	C	A	C30737303A	SRCAP	NM_006662.3(SRCAP):c.7263C>A:p.Arg2421=	coding	Benign
16	30737327	C	A	C30737327A	SRCAP	NM_006662.3(SRCAP):c.7287C>A:p.Cys2429Ter	coding	Pathogenic
16	30737343	C	T	C30737343T	SRCAP	NM_006662.3(SRCAP):c.7303C>T:p.Arg2435Ter	coding	Pathogenic
16	30737370	C	T	C30737370T	SRCAP	NM_006662.3(SRCAP):c.7330C>T:p.Arg2444Ter	coding	Pathogenic
16	30737579	G	T	G30737579T	SRCAP	NM_006662.3(SRCAP):c.7539G>T:p.Pro2513=	coding	Benign
16	30737611	C	G	C30737611G	SRCAP	NM_006662.3(SRCAP):c.7571C>G:p.Ser2524Cys	coding	Benign
16	30737767	C	A	C30737767A	SRCAP	NM_006662.3(SRCAP):c.7727C>A:p.Ser2576Ter	coding	Pathogenic
16	30738033	C	T	C30738033T	SRCAP	NM_006662.3(SRCAP):c.7993C>T:p.Gln2665Ter	coding	Pathogenic
16	30738282	C	T	C30738282T	SRCAP	NM_006662.3(SRCAP):c.8242C>T:p.Arg2748Ter	coding	Pathogenic
16	30738390	A	C	A30738390C	SRCAP	NM_006662.3(SRCAP):c.8350A>C:p.Thr2784Pro	coding	Benign
16	30738467	T	A	T30738467A	SRCAP	NM_006662.3(SRCAP):c.8427T>A:p.Cys2809Ter	coding	Pathogenic
16	30738494	C	T	C30738494T	SRCAP	NM_006662.3(SRCAP):c.8454C>T:p.Pro2818=	coding	Benign
16	30738522	C	T	C30738522T	SRCAP	NM_006662.3(SRCAP):c.8482C>T:p.Arg2828Cys	coding	Benign/Likely_benign
16	30738548	T	G	T30738548G	SRCAP	NM_006662.3(SRCAP):c.8508T>G:p.Thr2836=	coding	Benign
16	30738743	A	G	A30738743G	SRCAP	NM_006662.3(SRCAP):c.8703A>G:p.Leu2901=	coding	Benign/Likely_benign
16	30738891	C	G	C30738891G	SRCAP	NM_006662.3(SRCAP):c.8851C>G:p.Pro2951Ala	coding	Benign
16	30738905	C	G	C30738905G	SRCAP	NM_006662.3(SRCAP):c.8865C>G:p.Ser2955=	coding	Benign/Likely_benign
16	30738933	C	T	C30738933T	SRCAP	NM_006662.3(SRCAP):c.8893C>T:p.Arg2965Trp	coding	Benign
16	30739152	T	C	T30739152C	SRCAP	NM_006662.3(SRCAP):c.9112T>C:p.Leu3038=	coding	Benign
16	30739269	C	A	C30739269A	SRCAP	NM_006662.3(SRCAP):c.9229C>A:p.Arg3077=	coding	Benign
16	30739484	T	C	T30739484C	SRCAP	NM_006662.3(SRCAP):c.9444T>C:p.Ser3148=	coding	Benign
16	30748395	T	C	T30748395C	PHKG2	NM_001172432.1(PHKG2):c.-114T>C	noncoding	Benign
16	30748842	G	T	G30748842T	PHKG2	NM_000294.3(PHKG2):c.22G>T:p.Glu8Ter	coding	Pathogenic
16	30751096	G	T	G30751096T	PHKG2	NM_000294.3(PHKG2):c.96-10G>T	noncoding	Benign/Likely_benign
16	30751140	C	T	C30751140T	PHKG2	NM_000294.3(PHKG2):c.130C>T:p.Arg44Ter	coding	Pathogenic
16	30751184	A	T	A30751184T	PHKG2	NM_000294.3(PHKG2):c.174A>T:p.Thr58=	coding	Benign/Likely_benign
16	30751266	G	A	G30751266A	PHKG2	NM_000294.3(PHKG2):c.256G>A:p.Gly86Ser	coding	Benign
16	30751319	C	T	C30751319T	PHKG2	NM_000294.3(PHKG2):c.271+38C>T	noncoding	Benign
16	30751594	T	A	T30751594A	PHKG2	NM_000294.3(PHKG2):c.317T>A:p.Val106Glu	coding	Pathogenic
16	30753434	C	T	C30753434T	PHKG2	NM_000294.3(PHKG2):c.433C>T:p.His145Tyr	coding	Pathogenic
16	30753554	C	T	C30753554T	PHKG2	NM_000294.3(PHKG2):c.553C>T:p.Arg185Ter	coding	Pathogenic
16	30756191	G	A	G30756191A	PHKG2	NM_000294.3(PHKG2):c.566G>A:p.Gly189Glu	coding	Pathogenic
16	30756396	T	G	T30756396G	PHKG2	NM_000294.3(PHKG2):c.677T>G:p.Leu226Arg	coding	Pathogenic
16	30756464	C	T	C30756464T	PHKG2	NM_000294.3(PHKG2):c.745C>T:p.Gln249Ter	coding	Pathogenic
16	30756714	G	A	G30756714A	PHKG2	NM_000294.3(PHKG2):c.926G>A:p.Arg309Gln	coding	Pathogenic
16	30772145	C	T	C30772145T	RNF40	NM_014771.4(RNF40):c.2784C>T:p.Tyr928=	coding	Benign
16	30781848	T	A	T30781848A	ZNF629	NM_001080417.3(ZNF629):c.2480A>T:p.His827Leu	coding	Benign
16	30784153	T	A	T30784153A	ZNF629	NM_001080417.3(ZNF629):c.175A>T:p.Thr59Ser	coding	Benign
16	30899509	C	T	C30899509T	CTF1	NM_001330.5(CTF1):c.120C>T:p.Tyr40=	coding	Benign
16	30902213	C	T	C30902213T	CTF1	NM_001330.5(CTF1):c.280C>T:p.Leu94=	coding	Benign/Likely_benign
16	30902524	C	G	C30902524G	CTF1	NM_001330.5(CTF1):c.591C>G:p.Pro197=	coding	Benign/Likely_benign
16	30902529	G	A	G30902529A	CTF1	NM_001330.5(CTF1):c.596G>A:p.Gly199Asp	coding	Benign
16	30925907	G	A	G30925907A	FBXL19	NM_001099784.2(FBXL19):c.213G>A:p.Ser71=	coding	Benign
16	30927867	C	T	C30927867T	FBXL19	NM_001099784.2(FBXL19):c.591C>T:p.Gly197=	coding	Benign
16	30947160	G	A	G30947160A	FBXL19	NM_001099784.2(FBXL19):c.2015G>A:p.Arg672Gln	coding	Benign
16	30963423	C	T	C30963423T	SETD1A	NM_014712.3(SETD1A):c.518-10C>T	noncoding	Benign
16	30963431	A	G	A30963431G	SETD1A	NM_014712.3(SETD1A):c.518-2A>G	noncoding	Pathogenic
16	30964180	C	T	C30964180T	SETD1A	NM_014712.3(SETD1A):c.726C>T:p.Pro242=	coding	Benign
16	30964260	A	G	A30964260G	SETD1A	NM_014712.3(SETD1A):c.806A>G:p.Gln269Arg	coding	Pathogenic
16	30965624	C	T	C30965624T	SETD1A	NM_014712.3(SETD1A):c.1743C>T:p.Asp581=	coding	Benign
16	30965720	T	G	T30965720G	SETD1A	NM_014712.3(SETD1A):c.1839T>G:p.Pro613=	coding	Benign
16	30965819	C	G	C30965819G	SETD1A	NM_014712.3(SETD1A):c.1938C>G:p.Tyr646Ter	coding	Pathogenic
16	30966090	C	T	C30966090T	SETD1A	NM_014712.3(SETD1A):c.2209C>T:p.Gln737Ter	coding	Pathogenic
16	30966144	G	A	G30966144A	SETD1A	NM_014712.3(SETD1A):c.2263G>A:p.Ala755Thr	coding	Benign
16	30967027	G	A	G30967027A	SETD1A	NM_014712.3(SETD1A):c.2649G>A:p.Gly883=	coding	Benign
16	30967555	C	T	C30967555T	SETD1A	NM_014712.3(SETD1A):c.2737C>T:p.Arg913Cys	coding	Pathogenic
16	30969456	G	A	G30969456A	SETD1A	NM_014712.3(SETD1A):c.2922G>A:p.Ser974=	coding	Benign
16	30979891	G	A	G30979891A	SETD1A	NM_014712.3(SETD1A):c.4105G>A:p.Gly1369Arg	coding	Pathogenic
16	30979961	G	A	G30979961A	SETD1A	NM_014712.3(SETD1A):c.4175G>A:p.Arg1392His	coding	Pathogenic
16	30980571	T	G	T30980571G	SETD1A	NM_014712.3(SETD1A):c.4495T>G:p.Tyr1499Asp	coding	Pathogenic
16	30980612	C	T	C30980612T	SETD1A	NM_014712.3(SETD1A):c.4536C>T:p.Asp1512=	coding	Benign
16	30985729	A	G	A30985729G	HSD3B7	NM_025193.4(HSD3B7):c.71A>G:p.His24Arg	coding	Benign
16	30985761	C	G	C30985761G	HSD3B7	NM_025193.4(HSD3B7):c.103C>G:p.Arg35Gly	coding	Benign
16	30985825	G	A	G30985825A	HSD3B7	NM_025193.4(HSD3B7):c.166+1G>A	coding	Pathogenic
16	30986042	C	A	C30986042A	HSD3B7	NM_025193.4(HSD3B7):c.167-7C>A	noncoding	Benign
16	30986042	C	T	C30986042T	HSD3B7	NM_025193.4(HSD3B7):c.167-7C>T	noncoding	Benign
16	30986205	G	T	G30986205T	HSD3B7	NM_025193.4(HSD3B7):c.322+1G>T	coding	Pathogenic
16	30986457	C	T	C30986457T	HSD3B7	NM_025193.4(HSD3B7):c.357C>T:p.Thr119=	coding	Benign
16	30986612	G	A	G30986612A	HSD3B7	NM_025193.4(HSD3B7):c.439G>A:p.Glu147Lys	coding	Pathogenic
16	30987821	A	G	A30987821G	HSD3B7	NM_025193.4(HSD3B7):c.748A>G:p.Thr250Ala	coding	Benign
16	30987877	C	T	C30987877T	HSD3B7	NM_025193.4(HSD3B7):c.804C>T:p.Tyr268=	coding	Benign
16	30987929	G	A	G30987929A	HSD3B7	NM_025193.4(HSD3B7):c.856G>A:p.Ala286Thr	coding	Benign
16	30988048	C	T	C30988048T	HSD3B7	NM_025193.4(HSD3B7):c.975C>T:p.Ala325=	coding	Benign
16	30988113	T	C	T30988113C	HSD3B7	NM_025193.4(HSD3B7):c.1040T>C:p.Leu347Pro	coding	Benign
16	30988141	T	C	T30988141C	HSD3B7	NM_025193.4(HSD3B7):c.1068T>C:p.Arg356=	coding	Benign
16	30992827	G	A	G30992827A	STX1B	NM_052874.5(STX1B):c.861C>T:p.Gly287=	coding	Benign
16	30992848	T	C	T30992848C	STX1B	NM_052874.5(STX1B):c.840A>G:p.Ser280=	coding	Benign
16	30992851	C	T	C30992851T	STX1B	NM_052874.5(STX1B):c.837G>A:p.Ala279=	coding	Benign/Likely_benign
16	30992860	C	T	C30992860T	STX1B	NM_052874.5(STX1B):c.828G>A:p.Val276=	coding	Benign
16	30993123	C	T	C30993123T	STX1B	NM_052874.5(STX1B):c.786+7G>A	noncoding	Benign
16	30993183	G	A	G30993183A	STX1B	NM_052874.5(STX1B):c.733C>T:p.Arg245Ter	coding	Pathogenic
16	30993240	C	G	C30993240G	STX1B	NM_052874.5(STX1B):c.676G>C:p.Gly226Arg	coding	Pathogenic
16	30993375	A	T	A30993375T	STX1B	NM_052874.5(STX1B):c.647T>A:p.Val216Glu	coding	Pathogenic
16	30993413	C	T	C30993413T	STX1B	NM_052874.5(STX1B):c.609G>A:p.Lys203=	coding	Benign
16	30993447	T	C	T30993447C	STX1B	NM_052874.5(STX1B):c.575A>G:p.Asn192Ser	coding	Benign
16	30993489	G	C	G30993489C	STX1B	NM_052874.5(STX1B):c.538-5C>G	noncoding	Benign
16	30993491	T	C	T30993491C	STX1B	NM_052874.5(STX1B):c.538-7A>G	noncoding	Benign
16	30996707	C	G	C30996707G	STX1B	NM_052874.5(STX1B):c.513G>C:p.Gly171=	coding	Benign
16	30997067	G	C	G30997067C	STX1B	NM_052874.5(STX1B):c.355-8C>G	noncoding	Benign
16	31001133	G	A	G31001133A	STX1B	NM_052874.5(STX1B):c.166C>T:p.Gln56Ter	coding	Pathogenic
16	31001159	G	T	G31001159T	STX1B	NM_052874.5(STX1B):c.140C>A:p.Ser47Ter	coding	Pathogenic
16	31001519	G	A	G31001519A	STX1B	NM_052874.5(STX1B):c.105+10C>T	noncoding	Benign/Likely_benign
16	31061069	C	T	C31061069T	ZNF668	NM_024706.5(ZNF668):c.1859G>A:p.Ter620=	coding	Benign
16	31063914	C	T	C31063914T	ZNF668	NM_024706.5(ZNF668):c.546G>A:p.Val182=	coding	Benign
16	31087679	C	T	C31087679T	VKORC1	NM_001039503.2(PRSS53):c.100G>A:p.Gly34Ser	coding	Benign
16	31091268	G	A	G31091268A	VKORC1	NM_024006.6(VKORC1):c.358C>T:p.Leu120=	coding	Benign
16	31091334	G	A	G31091334A	VKORC1	NM_024006.6(VKORC1):c.292C>T:p.Arg98Trp	coding	Pathogenic
16	31093392	T	C	T31093392C	VKORC1	NM_024006.6(VKORC1):c.203A>G:p.His68Arg	coding	Benign
16	31094558	T	C	T31094558C	VKORC1	NM_024006.6(VKORC1):c.172A>G:p.Arg58Gly	coding	Pathogenic
16	31094596	A	G	A31094596G	VKORC1	NM_024006.6(VKORC1):c.134T>C:p.Val45Ala	coding	Pathogenic
16	31094601	G	A	G31094601A	VKORC1	NM_024006.6(VKORC1):c.129C>T:p.Cys43=	coding	Benign/Likely_benign
16	31094645	C	A	C31094645A	VKORC1	NM_024006.6(VKORC1):c.85G>T:p.Val29Leu	coding	Pathogenic
16	31094694	C	T	C31094694T	VKORC1	NM_024006.6(VKORC1):c.36G>A:p.Arg12=	coding	Benign
16	31109404	G	T	G31109404T	BCKDK	NM_005881.4(BCKDK):c.181G>T:p.Ala61Ser	coding	Benign
16	31110247	C	T	C31110247T	BCKDK	NM_005881.4(BCKDK):c.466C>T:p.Arg156Ter	coding	Pathogenic
16	31110472	G	A	G31110472A	BCKDK	NM_005881.4(BCKDK):c.615G>A:p.Thr205=	coding	Benign
16	31110716	G	C	G31110716C	BCKDK	NM_005881.4(BCKDK):c.671G>C:p.Arg224Pro	coding	Pathogenic
16	31111229	C	T	C31111229T	BCKDK	NM_005881.4(BCKDK):c.845+10C>T	noncoding	Benign
16	31120243	A	G	A31120243G	KAT8	NM_032188.3(KAT8):c.269A>G:p.Tyr90Cys	coding	Pathogenic
16	31120345	G	A	G31120345A	KAT8	NM_032188.3(KAT8):c.293G>A:p.Arg98Gln	coding	Pathogenic
16	31127195	A	G	A31127195G	KAT8	NM_032188.3(KAT8):c.523A>G:p.Lys175Glu	coding	Pathogenic
16	31127215	G	C	G31127215C	KAT8	NM_032188.3(KAT8):c.543G>C:p.Lys181Asn	coding	Pathogenic
16	31135476	C	T	C31135476T	PRSS8	NM_002773.5(PRSS8):c.23G>A:p.Gly8Glu	coding	Benign
16	31149125	C	G	C31149125G	PRSS36	NM_173502.5(PRSS36):c.220G>C:p.Gly74Arg	coding	Benign
16	31180161	A	G	A31180161G	FUS	NM_004960.3(FUS):c.-54A>G	noncoding	Benign
16	31180168	G	A	G31180168A	FUS	NM_004960.4(FUS):c.-47G>A	noncoding	Benign
16	31180176	A	G	A31180176G	FUS	NM_004960.3(FUS):c.-39A>G	noncoding	Benign
16	31182606	C	T	C31182606T	FUS	NM_004960.4(FUS):c.132C>T:p.Ser44=	coding	Benign
16	31182621	C	A	C31182621A	FUS	NM_004960.3(FUS):c.147C>A:p.Gly49=	coding	Benign
16	31182627	C	T	C31182627T	FUS	NM_004960.3(FUS):c.153C>T:p.Gly51=	coding	Benign
16	31182673	T	C	T31182673C	FUS	NM_004960.3(FUS):c.190+9T>C	noncoding	Benign
16	31183865	T	C	T31183865C	FUS	NM_004960.3(FUS):c.198T>C:p.Tyr66=	coding	Benign
16	31183904	C	T	C31183904T	FUS	NM_004960.4(FUS):c.237C>T:p.Gly79=	coding	Benign
16	31183940	C	T	C31183940T	FUS	NM_004960.4(FUS):c.273C>T:p.Tyr91=	coding	Benign
16	31183958	C	T	C31183958T	FUS	NM_004960.3(FUS):c.291C>T:p.Tyr97=	coding	Benign
16	31184277	G	A	G31184277A	FUS	NM_004960.3(FUS):c.404G>A:p.Ser135Asn	coding	Benign/Likely_benign
16	31184934	C	T	C31184934T	FUS	NM_004960.3(FUS):c.524-5C>T	noncoding	Benign
16	31185031	G	A	G31185031A	FUS	NM_004960.3(FUS):c.616G>A:p.Gly206Ser	coding	Pathogenic
16	31185051	C	T	C31185051T	FUS	NM_004960.3(FUS):c.636C>T:p.Asp212=	coding	Benign
16	31185061	C	T	C31185061T	FUS	NM_004960.3(FUS):c.646C>T:p.Arg216Cys	coding	Pathogenic
16	31185090	C	T	C31185090T	FUS	NM_004960.4(FUS):c.675C>T:p.Gly225=	coding	Benign
16	31185099	C	T	C31185099T	FUS	NM_004960.4(FUS):c.684C>T:p.Gly228=	coding	Benign
16	31185117	C	T	C31185117T	FUS	NM_004960.4(FUS):c.702C>T:p.Arg234=	coding	Benign
16	31185191	A	C	A31185191C	FUS	NM_004960.3(FUS):c.764+12A>C	noncoding	Benign
16	31189158	C	T	C31189158T	FUS	NM_004960.3(FUS):c.868C>T:p.Gln290Ter	coding	Pathogenic
16	31190129	C	A	C31190129A	FUS	NM_004960.3(FUS):c.1156C>A:p.Arg386=	coding	Benign
16	31190354	C	T	C31190354T	FUS	NM_004960.3(FUS):c.1248C>T:p.Gly416=	coding	Benign/Likely_benign
16	31190962	G	T	G31190962T	FUS	NM_004960.4(FUS):c.1394-1G>T	noncoding	Pathogenic
16	31191033	C	T	C31191033T	FUS	NM_004960.3(FUS):c.1464C>T:p.Gly488=	coding	Benign/Likely_benign
16	31191052	C	T	C31191052T	FUS	NM_004960.3(FUS):c.1483C>T:p.Arg495Ter	coding	Pathogenic
16	31191089	G	A	G31191089A	FUS	NM_004960.3(FUS):c.1520G>A:p.Gly507Asp	coding	Pathogenic
16	31191408	C	G	C31191408G	FUS	NM_004960.3(FUS):c.1551C>G:p.His517Gln	coding	Pathogenic
16	31191410	G	A	G31191410A	FUS	NM_004960.3(FUS):c.1553G>A:p.Arg518Lys	coding	Pathogenic
16	31191412	C	T	C31191412T	FUS	NM_004960.4(FUS):c.1555C>T:p.Gln519Ter	coding	Pathogenic
16	31191418	C	G	C31191418G	FUS	NM_004960.3(FUS):c.1561C>G:p.Arg521Gly	coding	Pathogenic
16	31191418	C	T	C31191418T	FUS	NM_004960.3(FUS):c.1561C>T:p.Arg521Cys	coding	Pathogenic
16	31191419	G	A	G31191419A	FUS	NM_004960.3(FUS):c.1562G>A:p.Arg521His	coding	Pathogenic
16	31191423	G	A	G31191423A	FUS	NM_004960.3(FUS):c.1566G>A:p.Arg522=	coding	Benign
16	31191427	A	T	A31191427T	FUS	NM_004960.3(FUS):c.1570A>T:p.Arg524Trp	coding	Pathogenic
16	31191429	G	C	G31191429C	FUS	NM_004960.3(FUS):c.1572G>C:p.Arg524Ser	coding	Pathogenic
16	31191431	C	T	C31191431T	FUS	NM_004960.3(FUS):c.1574C>T:p.Pro525Leu	coding	Pathogenic
16	31191434	A	G	A31191434G	FUS	NM_004960.4(FUS):c.1577A>G:p.Tyr526Cys	coding	Pathogenic
16	31191448	C	T	C31191448T	FUS	NM_004960.4(FUS):c.*10C>T	noncoding	Benign
16	31191479	G	A	G31191479A	FUS	NM_004960.4(FUS):c.*41G>A	noncoding	Benign/Likely_benign
16	31191652	C	T	C31191652T	FUS	NM_004960.3(FUS):c.*214C>T	noncoding	Benign
16	31191929	T	G	T31191929G	FUS	NM_004960.3(FUS):c.*491T>G	noncoding	Benign
16	31192064	G	A	G31192064A	FUS	NM_004960.3(FUS):c.*626G>A	noncoding	Benign
16	31192125	G	A	G31192125A	FUS	NM_004960.3(FUS):c.*687G>A	noncoding	Benign
16	31192208	G	C	G31192208C	FUS	NM_004960.3(FUS):c.*770G>C	noncoding	Benign
16	31192348	C	T	C31192348T	FUS	NM_004960.3(FUS):c.*910C>T	noncoding	Benign
16	31192427	C	T	C31192427T	FUS	NM_004960.3(FUS):c.*989C>T	noncoding	Benign
16	31193241	C	T	C31193241T	FUS	NM_004960.3(FUS):c.*1803C>T	noncoding	Benign
16	31193321	T	C	T31193321C	FUS	NM_004960.3(FUS):c.*1883T>C	noncoding	Benign
16	31193831	T	A	T31193831A	FUS	NM_004960.3(FUS):c.*2393T>A	noncoding	Benign
16	31193881	A	G	A31193881G	FUS	NM_004960.3(FUS):c.*2443A>G	noncoding	Benign
16	31193924	G	A	G31193924A	FUS	NM_004960.3(FUS):c.*2486G>A	noncoding	Benign
16	31194232	G	C	G31194232C	FUS	NM_004960.3(FUS):c.*2794G>C	noncoding	Benign
16	31194668	A	G	A31194668G	FUS	NM_004960.3(FUS):c.*3230A>G	noncoding	Benign
16	31194669	T	C	T31194669C	FUS	NM_004960.3(FUS):c.*3231T>C	noncoding	Benign
16	31201831	A	G	A31201831G	PYCARD	NM_013258.5(PYCARD):c.342T>C:p.Phe114=	coding	Benign
16	31219376	C	T	C31219376T	TRIM72	NM_001008274.4(TRIM72):c.574C>T:p.Arg192Cys	coding	Benign
16	31219420	C	T	C31219420T	TRIM72	NM_001008274.4(TRIM72):c.618C>T:p.Arg206=	coding	Benign
16	31271945	G	A	G31271945A	ITGAM	NM_000632.4(ITGAM):c.657G>A:p.Thr219=	coding	Benign
16	31321569	C	T	C31321569T	ITGAM	NM_000632.4(ITGAM):c.1944C>T:p.Ala648=	coding	Benign
16	31328198	G	A	G31328198A	ITGAM	NM_000632.4(ITGAM):c.2760G>A:p.Pro920=	coding	Benign
16	31330103	C	A	C31330103A	ITGAM	NM_000632.4(ITGAM):c.2999C>A:p.Thr1000Asn	coding	Benign
16	31362967	C	T	C31362967T	ITGAX	NM_000887.5(ITGAX):c.1392C>T:p.Ser464=	coding	Benign
16	31363009	C	T	C31363009T	ITGAX	NM_000887.5(ITGAX):c.1434C>T:p.Ile478=	coding	Benign
16	31377034	A	G	A31377034G	ITGAX	NM_000887.5(ITGAX):c.2660A>G:p.Lys887Arg	coding	Benign
16	31428098	A	G	A31428098G	COX6A2	NM_005205.4(COX6A2):c.127T>C:p.Cys43Arg	coding	Pathogenic
16	31428108	G	T	G31428108T	COX6A2	NM_005205.4(COX6A2):c.117C>A:p.Ser39Arg	coding	Pathogenic
16	31459587	G	A	G31459587A	ARMC5	NM_001105247.2(ARMC5):c.63G>A:p.Ala21=	coding	Benign
16	31459645	A	G	A31459645G	ARMC5	NM_001105247.2(ARMC5):c.121A>G:p.Ser41Gly	coding	Benign
16	31459698	C	T	C31459698T	ARMC5	NM_001105247.2(ARMC5):c.174C>T:p.Ile58=	coding	Benign
16	31459780	C	T	C31459780T	ARMC5	NM_001105247.2(ARMC5):c.256C>T:p.Gln86Ter	coding	Pathogenic
16	31459818	G	T	G31459818T	ARMC5	NM_001105247.2(ARMC5):c.294G>T:p.Ser98=	coding	Benign
16	31459852	G	A	G31459852A	ARMC5	NM_001105247.2(ARMC5):c.328G>A:p.Ala110Thr	coding	Benign
16	31459962	G	A	G31459962A	ARMC5	NM_001105247.2(ARMC5):c.438G>A:p.Arg146=	coding	Benign
16	31459990	C	T	C31459990T	ARMC5	NM_001105247.2(ARMC5):c.466C>T:p.Leu156Phe	coding	Benign
16	31462276	C	T	C31462276T	ARMC5	NM_001105247.2(ARMC5):c.729C>T:p.Ala243=	coding	Benign
16	31462346	C	T	C31462346T	ARMC5	NM_001105247.2(ARMC5):c.799C>T:p.Arg267Ter	coding	Pathogenic
16	31462515	G	C	G31462515C	ARMC5	NM_001105247.2(ARMC5):c.968G>C:p.Gly323Ala	coding	Benign
16	31462516	C	T	C31462516T	ARMC5	NM_001105247.2(ARMC5):c.969C>T:p.Gly323=	coding	Benign
16	31462641	T	C	T31462641C	ARMC5	NM_001105247.2(ARMC5):c.1094T>C:p.Leu365Pro	coding	Pathogenic
16	31462699	C	T	C31462699T	ARMC5	NM_001105247.2(ARMC5):c.1152C>T:p.Ser384=	coding	Benign
16	31462770	A	G	A31462770G	ARMC5	NM_001105247.2(ARMC5):c.1223A>G:p.Gln408Arg	coding	Benign
16	31462864	T	C	T31462864C	ARMC5	NM_001105247.2(ARMC5):c.1317T>C:p.Phe439=	coding	Benign
16	31464538	C	T	C31464538T	ARMC5	NM_001105247.2(ARMC5):c.1515C>T:p.Arg505=	coding	Benign
16	31464664	G	A	G31464664A	ARMC5	NM_001105247.2(ARMC5):c.1641G>A:p.Ala547=	coding	Benign
16	31464666	T	C	T31464666C	ARMC5	NM_001105247.2(ARMC5):c.1643T>C:p.Leu548Pro	coding	Pathogenic
16	31464800	C	T	C31464800T	ARMC5	NM_001105247.2(ARMC5):c.1777C>T:p.Arg593Trp	coding	Pathogenic
16	31466121	T	C	T31466121C	ARMC5	NM_001105247.2(ARMC5):c.2040T>C:p.Gly680=	coding	Benign
16	31466154	G	A	G31466154A	ARMC5	NM_001105247.2(ARMC5):c.2073G>A:p.Pro691=	coding	Benign
16	31466337	C	T	C31466337T	ARMC5	NM_001105247.2(ARMC5):c.2256C>T:p.Phe752=	coding	Benign
16	31466474	G	C	G31466474C	ARMC5	NM_001105247.2(ARMC5):c.2393G>C:p.Gly798Ala	coding	Benign
16	31466538	C	T	C31466538T	ARMC5	NM_001105247.2(ARMC5):c.2457C>T:p.Pro819=	coding	Benign
16	31466773	C	T	C31466773T	ARMC5	NM_001105247.2(ARMC5):c.2692C>T:p.Arg898Trp	coding	Pathogenic
16	31466871	G	A	G31466871A	ARMC5	NM_001105247.2(ARMC5):c.2790G>A:p.Gly930=	coding	Benign
16	31483196	T	C	T31483196C	SLC5A2	NM_003041.4(SLC5A2):c.60T>C:p.Ile20=	coding	Benign
16	31484657	C	A	C31484657A	SLC5A2	NM_003041.4(SLC5A2):c.127-16C>A	noncoding	Pathogenic
16	31484885	G	A	G31484885A	SLC5A2	NM_003041.4(SLC5A2):c.265G>A:p.Ala89Thr	coding	Pathogenic
16	31484914	C	A	C31484914A	SLC5A2	NM_003041.4(SLC5A2):c.294C>A:p.Phe98Leu	coding	Pathogenic
16	31487764	G	A	G31487764A	SLC5A2	NM_003041.4(SLC5A2):c.885+5G>A	noncoding	Pathogenic/Likely_pathogenic
16	31488919	G	A	G31488919A	SLC5A2	NM_003041.4(SLC5A2):c.1320G>A:p.Trp440Ter	coding	Pathogenic
16	31489034	C	G	C31489034G	SLC5A2	NM_003041.4(SLC5A2):c.1435C>G:p.Arg479Gly	coding	Pathogenic
16	31489221	G	A	G31489221A	SLC5A2	NM_003041.4(SLC5A2):c.1548G>A:p.Ala516=	coding	Benign/Likely_benign
16	31489299	C	G	C31489299G	SLC5A2	NM_003041.4(SLC5A2):c.1626C>G:p.Leu542=	coding	Benign
16	31490401	A	G	A31490401G	SLC5A2	NM_003041.4(SLC5A2):c.1885A>G:p.Thr629Ala	coding	Benign
16	31490598	G	A	G31490598A	SLC5A2	NM_003041.4(SLC5A2):c.*63G>A	noncoding	Benign
16	31528680	C	A	C31528680A	AHSP	NM_016633.4(AHSP):c.298C>A:p.Pro100Thr	coding	Benign
16	46618315	G	C	G46618315C	SHCBP1	NM_024745.5(SHCBP1):c.161C>G:p.Ser54Cys	coding	Benign
16	46660050	G	T	G46660050T	VPS35	NM_018206.6(VPS35):c.*422C>A	noncoding	Benign
16	46660118	C	G	C46660118G	VPS35	NM_018206.6(VPS35):c.*354G>C	noncoding	Benign
16	46660126	C	T	C46660126T	VPS35	NM_018206.6(VPS35):c.*346G>A	noncoding	Benign
16	46660622	G	A	G46660622A	VPS35	NM_018206.6(VPS35):c.2241C>T:p.Ile747=	coding	Benign/Likely_benign
16	46661784	T	C	T46661784C	VPS35	NM_018206.6(VPS35):c.2145A>G:p.Leu715=	coding	Benign/Likely_benign
16	46662452	C	T	C46662452T	VPS35	NM_018206.6(VPS35):c.1858G>A:p.Asp620Asn	coding	Pathogenic
16	46671831	C	T	C46671831T	VPS35	NM_018206.6(VPS35):c.1398G>A:p.Thr466=	coding	Benign
16	46672365	G	A	G46672365A	VPS35	NM_018206.6(VPS35):c.1268C>T:p.Pro423Leu	coding	Benign
16	46674329	T	C	T46674329C	VPS35	NM_018206.6(VPS35):c.1145A>G:p.Lys382Arg	coding	Benign
16	46676663	A	G	A46676663G	VPS35	NM_018206.6(VPS35):c.834T>C:p.Thr278=	coding	Benign
16	46682127	C	T	C46682127T	VPS35	NM_018206.6(VPS35):c.151G>A:p.Gly51Ser	coding	Benign
16	46689167	C	T	C46689167T	ORC6;VPS35	NM_018206.6(VPS35):c.-34G>A	noncoding	Benign/Likely_benign
16	46689686	T	C	T46689686C	ORC6;VPS35	NM_014321.4(ORC6):c.-20T>C	noncoding	Benign
16	46689706	A	G	A46689706G	ORC6	NM_014321.4(ORC6):c.1A>G:p.Met1Val	coding	Pathogenic
16	46689707	T	C	T46689707C	ORC6	NM_014321.4(ORC6):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
16	46693187	G	A	G46693187A	ORC6	NM_014321.4(ORC6):c.449+5G>A	noncoding	Pathogenic/Likely_pathogenic
16	46697501	T	C	T46697501C	ORC6	NM_014321.4(ORC6):c.675T>C:p.Asp225=	coding	Benign
16	46697521	A	C	A46697521C	ORC6	NM_014321.4(ORC6):c.695A>C:p.Tyr232Ser	coding	Pathogenic
16	46697802	C	T	C46697802T	ORC6	NM_014321.4(ORC6):c.*217C>T	noncoding	Benign
16	46698064	G	A	G46698064A	ORC6	NM_014321.4(ORC6):c.*479G>A	noncoding	Benign
16	46737980	T	A	T46737980A	MYLK3	NM_182493.3(MYLK3):c.732A>T:p.Thr244=	coding	Benign
16	46884785	C	T	C46884785T	GPT2	NM_133443.4(GPT2):c.70C>T:p.Gln24Ter	coding	Pathogenic
16	46884896	G	T	G46884896T	GPT2	NM_133443.4(GPT2):c.181G>T:p.Glu61Ter	coding	Pathogenic
16	46900691	C	T	C46900691T	GPT2	NM_133443.4(GPT2):c.343C>T:p.Leu115=	coding	Benign
16	46900748	C	T	C46900748T	GPT2	NM_133443.4(GPT2):c.400C>T:p.Arg134Cys	coding	Pathogenic
16	46906858	C	G	C46906858G	GPT2	NM_133443.4(GPT2):c.459C>G:p.Ser153Arg	coding	Pathogenic
16	46906909	G	A	G46906909A	GPT2	NM_133443.4(GPT2):c.510G>A:p.Arg170=	coding	Benign
16	46909788	C	T	C46909788T	GPT2	NM_133443.4(GPT2):c.681C>T:p.Asp227=	coding	Benign
16	46909833	G	A	G46909833A	GPT2	NM_133443.4(GPT2):c.726G>A:p.Ala242=	coding	Benign
16	46909882	T	C	T46909882C	GPT2	NM_133443.4(GPT2):c.775T>C:p.Cys259Arg	coding	Pathogenic
16	46909919	A	C	A46909919C	GPT2	NM_133443.4(GPT2):c.812A>C:p.Asn271Thr	coding	Pathogenic
16	46916713	A	C	A46916713C	GPT2	NM_133443.4(GPT2):c.900+6A>C	noncoding	Benign
16	46918737	C	T	C46918737T	GPT2	NM_133443.4(GPT2):c.1017C>T:p.Thr339=	coding	Benign
16	46922380	G	C	G46922380C	GPT2	NM_133443.4(GPT2):c.1176G>C:p.Pro392=	coding	Benign
16	46922380	G	T	G46922380T	GPT2	NM_133443.4(GPT2):c.1176G>T:p.Pro392=	coding	Benign
16	46922414	C	T	C46922414T	GPT2	NM_133443.4(GPT2):c.1210C>T:p.Arg404Ter	coding	Pathogenic
16	46924436	G	A	G46924436A	GPT2	NM_133443.4(GPT2):c.1260G>A:p.Thr420=	coding	Benign
16	46926991	G	A	G46926991A	GPT2	NM_133443.4(GPT2):c.1435G>A:p.Val479Met	coding	Pathogenic
16	46928993	C	T	C46928993T	GPT2	NM_133443.4(GPT2):c.1568C>T:p.Ala523Val	coding	Benign
16	47083433	A	T	A47083433T	NETO2	NM_018092.5(NETO2):c.1366T>A:p.Ser456Thr	coding	Benign
16	47461389	G	A	G47461389A	PHKB	NM_000293.3(PHKB):c.39G>A:p.Trp13Ter	coding	Benign
16	47502989	A	G	A47502989G	PHKB	NM_000293.3(PHKB):c.306-2A>G	noncoding	Pathogenic
16	47502992	C	T	C47502992T	PHKB	NM_000293.3(PHKB):c.307C>T:p.Arg103Ter	coding	Pathogenic
16	47503003	T	C	T47503003C	PHKB	NM_000293.3(PHKB):c.318T>C:p.Asp106=	coding	Benign
16	47511759	A	G	A47511759G	PHKB	NM_000293.3(PHKB):c.500A>G:p.Tyr167Cys	coding	Benign/Likely_benign
16	47515562	G	T	G47515562T	PHKB	NM_000293.3(PHKB):c.555G>T:p.Met185Ile	coding	Benign/Likely_benign
16	47587662	G	C	G47587662C	PHKB	NM_000293.3(PHKB):c.775-6G>C	noncoding	Benign
16	47587773	T	A	T47587773A	PHKB	NM_000293.3(PHKB):c.870+10T>A	noncoding	Benign/Likely_benign
16	47587780	T	C	T47587780C	PHKB	NM_000293.3(PHKB):c.870+17T>C	noncoding	Benign
16	47593571	T	G	T47593571G	PHKB	NM_000293.3(PHKB):c.1126+14T>G	noncoding	Benign/Likely_benign
16	47594123	A	G	A47594123G	PHKB	NM_000293.3(PHKB):c.1127-14A>G	noncoding	Benign/Likely_benign
16	47596425	T	A	T47596425A	PHKB	NM_000293.3(PHKB):c.1257T>A:p.Tyr419Ter	coding	Pathogenic
16	47596544	G	T	G47596544T	PHKB	NM_000293.3(PHKB):c.1363+13G>T	noncoding	Benign
16	47610796	C	T	C47610796T	PHKB	NM_000293.3(PHKB):c.1364-30C>T	noncoding	Benign
16	47610908	G	A	G47610908A	PHKB	NM_000293.3(PHKB):c.1446G>A:p.Arg482=	coding	Benign/Likely_benign
16	47650919	C	T	C47650919T	PHKB	NM_000293.3(PHKB):c.1969C>T:p.Gln657Ter	coding	Pathogenic/Likely_pathogenic
16	47660821	T	G	T47660821G	PHKB	NM_000293.3(PHKB):c.2196+2T>G	noncoding	Pathogenic
16	47661766	C	G	C47661766G	PHKB	NM_000293.3(PHKB):c.2244C>G:p.Leu748=	coding	Benign
16	47661815	C	G	C47661815G	PHKB	NM_000293.3(PHKB):c.2278+15C>G	noncoding	Benign/Likely_benign
16	47663707	A	G	A47663707G	PHKB	NM_000293.3(PHKB):c.2309A>G:p.Tyr770Cys	coding	Benign
16	47663724	C	T	C47663724T	PHKB	NM_000293.3(PHKB):c.2326C>T:p.Gln776Ter	coding	Pathogenic
16	47669220	T	G	T47669220G	PHKB	NM_000293.3(PHKB):c.2433T>G:p.Thr811=	coding	Benign/Likely_benign
16	47669246	A	T	A47669246T	PHKB	NM_000293.3(PHKB):c.2459A>T:p.Glu820Val	coding	Benign/Likely_benign
16	47669319	G	A	G47669319A	PHKB	NM_000293.3(PHKB):c.2532G>A:p.Glu844=	coding	Benign
16	47693370	T	C	T47693370C	PHKB	NM_000293.3(PHKB):c.2766-8T>C	noncoding	Benign/Likely_benign
16	47698565	C	T	C47698565T	PHKB	NM_000293.3(PHKB):c.3121C>T:p.Arg1041Trp	coding	Benign/Likely_benign
16	47698597	A	C	A47698597C	PHKB	NM_000293.3(PHKB):c.3144+9A>C	noncoding	Benign
16	47699351	G	A	G47699351A	PHKB	NM_000293.3(PHKB):c.3267G>A:p.Pro1089=	coding	Benign
16	47699514	T	A	T47699514A	PHKB	NM_000293.3(PHKB):c.*148T>A	noncoding	Benign
16	47699592	A	G	A47699592G	PHKB	NM_000293.3(PHKB):c.*226A>G	noncoding	Benign
16	47700106	C	T	C47700106T	PHKB	NM_000293.3(PHKB):c.*740C>T	noncoding	Benign
16	47701119	G	A	G47701119A	PHKB	NM_000293.3(PHKB):c.*1753G>A	noncoding	Benign
16	47701452	A	G	A47701452G	PHKB	NM_000293.3(PHKB):c.*2086A>G	noncoding	Benign
16	48083763	C	T	C48083763T	ABCC12	NM_033226.2(ABCC12):c.4032G>A:p.Lys1344=	coding	Benign
16	48087989	T	G	T48087989G	ABCC12	NM_033226.2(ABCC12):c.3572A>C:p.Glu1191Ala	coding	Benign
16	48104361	T	A	T48104361A	ABCC12	NM_033226.2(ABCC12):c.2681A>T:p.Lys894Met	coding	Benign
16	48140854	C	A	C48140854A	ABCC12	NM_033226.2(ABCC12):c.490G>T:p.Gly164Ter	coding	Benign
16	48144023	G	A	G48144023A	ABCC12	NM_033226.2(ABCC12):c.162C>T:p.Phe54=	coding	Benign
16	48167568	G	A	G48167568A	ABCC11	NM_001370497.1(ABCC11):c.3984C>T:p.Thr1328=	coding	Benign
16	48187226	T	C	T48187226C	ABCC11	NM_001370497.1(ABCC11):c.2908A>G:p.Met970Val	coding	Benign
16	48193978	G	A	G48193978A	ABCC11	NM_001370497.1(ABCC11):c.2409C>T:p.Tyr803=	coding	Benign
16	48208448	G	A	G48208448A	ABCC11	NM_001370497.1(ABCC11):c.1657C>T:p.Leu553=	coding	Benign
16	48211085	C	T	C48211085T	ABCC11	NM_001370497.1(ABCC11):c.1471G>A:p.Val491Ile	coding	Benign
16	48214887	C	T	C48214887T	ABCC11	NM_001370497.1(ABCC11):c.1242G>A:p.Ala414=	coding	Benign
16	48224287	C	T	C48224287T	ABCC11	NM_032583.4(ABCC11):c.538G>A:p.Gly180Arg	coding	Benign
16	48230441	G	A	G48230441A	ABCC11	NM_001370497.1(ABCC11):c.232C>T:p.Pro78Ser	coding	Benign
16	48231898	C	A	C48231898A	ABCC11	NM_001370497.1(ABCC11):c.24G>T:p.Trp8Cys	coding	Benign
16	48361616	G	A	G48361616A	SIAH1	NM_003031.4(SIAH1):c.813C>T:p.Gly271=	coding	Benign
16	48361775	A	T	A48361775T	SIAH1	NM_003031.4(SIAH1):c.654T>A:p.Ala218=	coding	Benign
16	48361865	G	A	G48361865A	SIAH1	NM_003031.4(SIAH1):c.564C>T:p.His188=	coding	Benign
16	48362279	C	T	C48362279T	SIAH1	NM_003031.4(SIAH1):c.150G>A:p.Pro50=	coding	Benign
16	48561005	T	C	T48561005C	N4BP1	NM_153029.4(N4BP1):c.1638A>G:p.Leu546=	coding	Benign
16	49491301	G	A	G49491301A	ZNF423	NM_001271620.2(ZNF423):c.3649C>T:p.His1217Tyr	coding	Pathogenic
16	49491313	G	A	G49491313A	ZNF423	NM_001271620.2(ZNF423):c.3646-9C>T	noncoding	Benign
16	49635783	G	A	G49635783A	ZNF423	NM_001271620.2(ZNF423):c.3189C>T:p.Pro1063=	coding	Benign/Likely_benign
16	49635815	C	T	C49635815T	ZNF423	NM_001271620.2(ZNF423):c.3157G>A:p.Ala1053Thr	coding	Benign/Likely_benign
16	49635825	C	T	C49635825T	ZNF423	NM_001271620.2(ZNF423):c.3147G>A:p.Pro1049=	coding	Benign
16	49635840	C	T	C49635840T	ZNF423	NM_001271620.2(ZNF423):c.3132G>A:p.Val1044=	coding	Benign
16	49635885	G	A	G49635885A	ZNF423	NM_001271620.2(ZNF423):c.3087C>T:p.Tyr1029=	coding	Benign/Likely_benign
16	49635950	G	T	G49635950T	ZNF423	NM_001271620.2(ZNF423):c.3022C>A:p.Leu1008Met	coding	Benign
16	49635996	C	T	C49635996T	ZNF423	NM_001271620.2(ZNF423):c.2976G>A:p.Ala992=	coding	Benign
16	49636012	G	A	G49636012A	ZNF423	NM_001271620.2(ZNF423):c.2960C>T:p.Ala987Val	coding	Benign/Likely_benign
16	49636115	G	A	G49636115A	ZNF423	NM_001271620.2(ZNF423):c.2857C>T:p.Leu953=	coding	Benign
16	49636164	G	C	G49636164C	ZNF423	NM_001271620.2(ZNF423):c.2808C>G:p.Pro936=	coding	Benign
16	49636479	A	G	A49636479G	ZNF423	NM_001271620.2(ZNF423):c.2493T>C:p.Cys831=	coding	Benign
16	49636614	G	T	G49636614T	ZNF423	NM_001271620.2(ZNF423):c.2358C>A:p.Pro786=	coding	Benign
16	49636641	G	A	G49636641A	ZNF423	NM_001271620.2(ZNF423):c.2331C>T:p.Thr777=	coding	Benign
16	49636848	G	A	G49636848A	ZNF423	NM_001271620.2(ZNF423):c.2124C>T:p.His708=	coding	Benign
16	49637043	C	T	C49637043T	ZNF423	NM_001271620.2(ZNF423):c.1929G>A:p.Ser643=	coding	Benign/Likely_benign
16	49637163	C	T	C49637163T	ZNF423	NM_001271620.2(ZNF423):c.1809G>A:p.Ala603=	coding	Benign/Likely_benign
16	49637190	G	A	G49637190A	ZNF423	NM_001271620.2(ZNF423):c.1782C>T:p.His594=	coding	Benign/Likely_benign
16	49637266	T	C	T49637266C	ZNF423	NM_001271620.2(ZNF423):c.1706A>G:p.Asn569Ser	coding	Benign
16	49637307	C	T	C49637307T	ZNF423	NM_001271620.2(ZNF423):c.1665G>A:p.Pro555=	coding	Benign
16	49637499	C	T	C49637499T	ZNF423	NM_001271620.2(ZNF423):c.1473G>A:p.Pro491=	coding	Benign
16	49637607	A	G	A49637607G	ZNF423	NM_001271620.2(ZNF423):c.1365T>C:p.Asn455=	coding	Benign
16	49637616	G	A	G49637616A	ZNF423	NM_001271620.2(ZNF423):c.1356C>T:p.Asp452=	coding	Benign
16	49637850	C	T	C49637850T	ZNF423	NM_001271620.2(ZNF423):c.1122G>A:p.Ala374=	coding	Benign
16	49637982	C	T	C49637982T	ZNF423	NM_001271620.2(ZNF423):c.990G>A:p.Pro330=	coding	Benign
16	49638465	G	A	G49638465A	ZNF423	NM_001271620.2(ZNF423):c.507C>T:p.Arg169=	coding	Benign/Likely_benign
16	49638546	G	A	G49638546A	ZNF423	NM_001271620.2(ZNF423):c.426C>T:p.Ala142=	coding	Benign
16	49638609	A	G	A49638609G	ZNF423	NM_001271620.2(ZNF423):c.363T>C:p.Arg121=	coding	Benign
16	49638864	G	A	G49638864A	ZNF423	NM_001271620.2(ZNF423):c.108C>T:p.Asp36=	coding	Benign/Likely_benign
16	49789474	C	T	C49789474T	ZNF423	NM_001271620.2(ZNF423):c.-105+13G>A	noncoding	Benign
16	49789500	G	A	G49789500A	ZNF423	NM_001271620.2(ZNF423):c.-118C>T	coding	Benign
16	50298894	C	T	C50298894T	ADCY7	NM_001114.5(ADCY7):c.949-10C>T	noncoding	Benign
16	50298984	C	T	C50298984T	ADCY7	NM_001114.5(ADCY7):c.1029C>T:p.His343=	coding	Benign
16	50305572	G	A	G50305572A	ADCY7	NM_001114.5(ADCY7):c.1665G>A:p.Gly555=	coding	Benign
16	50308801	C	T	C50308801T	ADCY7	NM_001114.5(ADCY7):c.2061+9C>T	noncoding	Benign
16	50314038	C	T	C50314038T	ADCY7	NM_001114.5(ADCY7):c.2832C>T:p.Ser944=	coding	Benign
16	50315415	T	C	T50315415C	ADCY7	NM_001114.5(ADCY7):c.3153T>C:p.Arg1051=	coding	Benign
16	50630817	C	T	C50630817T	NKD1	NM_033119.5(NKD1):c.611-9C>T	noncoding	Benign
16	50633448	C	T	C50633448T	NKD1	NM_033119.5(NKD1):c.1080C>T:p.His360=	coding	Benign
16	50675881	C	T	C50675881T	SNX20	NM_182854.4(SNX20):c.171G>A:p.Thr57=	coding	Benign
16	50697185	G	A	G50697185A	NOD2	NM_001370466.1(NOD2):c.-8-2303G>A	noncoding	Benign
16	50697186	T	C	T50697186C	NOD2	NM_001370466.1(NOD2):c.-8-2302T>C	noncoding	Benign/Likely_benign
16	50697230	C	T	C50697230T	NOD2	NM_001370466.1(NOD2):c.-8-2258C>T	noncoding	Benign/Likely_benign
16	50699729	G	A	G50699729A	NOD2	NM_001370466.1(NOD2):c.234G>A:p.Ala78=	coding	Benign
16	50699753	C	T	C50699753T	NOD2	NM_001370466.1(NOD2):c.258C>T:p.Asp86=	coding	Benign
16	50699832	G	A	G50699832A	NOD2	NM_001370466.1(NOD2):c.337G>A:p.Ala113Thr	coding	Benign
16	50699897	C	T	C50699897T	NOD2	NM_001370466.1(NOD2):c.402C>T:p.Phe134=	coding	Benign
16	50699948	C	G	C50699948G	NOD2	NM_001370466.1(NOD2):c.453C>G:p.Ser151=	coding	Benign
16	50707852	T	C	T50707852C	NOD2	NM_001370466.1(NOD2):c.460-3T>C	noncoding	Benign
16	50707881	G	A	G50707881A	NOD2	NM_001370466.1(NOD2):c.486G>A:p.Thr162=	coding	Benign/Likely_benign
16	50707975	T	C	T50707975C	NOD2	NM_001370466.1(NOD2):c.565+15T>C	noncoding	Benign/Likely_benign
16	50710654	T	G	T50710654G	NOD2	NM_001370466.1(NOD2):c.662T>G:p.Leu221Arg	coding	Benign
16	50710713	C	T	C50710713T	NOD2	NM_001370466.1(NOD2):c.721C>T:p.Pro241Ser	coding	Benign
16	50710727	C	T	C50710727T	NOD2	NM_001370466.1(NOD2):c.735C>T:p.Ser245=	coding	Benign
16	50710777	A	G	A50710777G	NOD2	NM_001370466.1(NOD2):c.785A>G:p.Asn262Ser	coding	Benign/Likely_benign
16	50710911	C	T	C50710911T	NOD2	NM_001370466.1(NOD2):c.919C>T:p.Arg307Trp	coding	Pathogenic
16	50710912	G	A	G50710912A	NOD2	NM_001370466.1(NOD2):c.920G>A:p.Arg307Gln	coding	Pathogenic
16	50710956	C	T	C50710956T	NOD2	NM_022162.3(NOD2):c.1045C>T:p.Leu349Phe	coding	Pathogenic
16	50710966	A	G	A50710966G	NOD2	NM_001370466.1(NOD2):c.974A>G:p.His325Arg	coding	Benign
16	50711057	C	G	C50711057G	NOD2	NM_001370466.1(NOD2):c.1065C>G:p.Asp355Glu	coding	Pathogenic
16	50711058	G	A	G50711058A	NOD2	NM_001370466.1(NOD2):c.1066G>A:p.Glu356Lys	coding	Pathogenic
16	50711083	G	A	G50711083A	NOD2	NM_001370466.1(NOD2):c.1091G>A:p.Arg364His	coding	Benign/Likely_benign
16	50711105	C	T	C50711105T	NOD2	NM_001370466.1(NOD2):c.1113C>T:p.Thr371=	coding	Benign
16	50711180	G	T	G50711180T	NOD2	NM_001370466.1(NOD2):c.1188G>T:p.Val396=	coding	Benign/Likely_benign
16	50711288	C	T	C50711288T	NOD2	NM_001370466.1(NOD2):c.1296C>T:p.Arg432=	coding	Benign
16	50711316	C	T	C50711316T	NOD2	NM_001370466.1(NOD2):c.1324C>T:p.Leu442Phe	coding	Pathogenic
16	50711322	C	T	C50711322T	NOD2	NM_001370466.1(NOD2):c.1330C>T:p.Arg444Cys	coding	Benign/Likely_benign
16	50711364	C	T	C50711364T	NOD2	NM_001370466.1(NOD2):c.1372C>T:p.Leu458=	coding	Benign/Likely_benign
16	50711395	G	A	G50711395A	NOD2	NM_001370466.1(NOD2):c.1403G>A:p.Cys468Tyr	coding	Pathogenic
16	50711398	A	T	A50711398T	NOD2	NM_001370466.1(NOD2):c.1406A>T:p.His469Leu	coding	Pathogenic
16	50711449	T	C	T50711449C	NOD2	NM_001370466.1(NOD2):c.1457T>C:p.Met486Thr	coding	Pathogenic
16	50711631	C	T	C50711631T	NOD2	NM_022162.3(NOD2):c.1720C>T:p.Gln574Ter	coding	Pathogenic
16	50711672	T	G	T50711672G	NOD2	NM_001370466.1(NOD2):c.1680T>G:p.Arg560=	coding	Benign
16	50711699	G	A	G50711699A	NOD2	NM_001370466.1(NOD2):c.1707G>A:p.Thr569=	coding	Benign
16	50711744	C	T	C50711744T	NOD2	NM_001370466.1(NOD2):c.1752C>T:p.Ala584=	coding	Benign/Likely_benign
16	50711745	G	A	G50711745A	NOD2	NM_001370466.1(NOD2):c.1753G>A:p.Ala585Thr	coding	Benign/Likely_benign
16	50711957	G	T	G50711957T	NOD2	NM_001370466.1(NOD2):c.1965G>T:p.Leu655Phe	coding	Benign/Likely_benign
16	50711961	C	T	C50711961T	NOD2	NM_001370466.1(NOD2):c.1969C>T:p.Arg657Trp	coding	Benign/Likely_benign
16	50712034	G	A	G50712034A	NOD2	NM_001370466.1(NOD2):c.2042G>A:p.Arg681His	coding	Benign/Likely_benign
16	50712038	G	A	G50712038A	NOD2	NM_001370466.1(NOD2):c.2046G>A:p.Trp682Ter	coding	Pathogenic
16	50712085	C	G	C50712085G	NOD2	NM_001370466.1(NOD2):c.2093C>G:p.Ala698Gly	coding	Benign
16	50712108	G	T	G50712108T	NOD2	NM_022162.2(NOD2):c.2197G>T:p.Val733Leu	coding	Pathogenic
16	50712280	G	A	G50712280A	NOD2	NM_001370466.1(NOD2):c.2288G>A:p.Arg763Gln	coding	Benign/Likely_benign
16	50712283	G	A	G50712283A	NOD2	NM_001370466.1(NOD2):c.2291G>A:p.Arg764Gln	coding	Benign/Likely_benign
16	50712317	G	T	G50712317T	NOD2	NM_001370466.1(NOD2):c.2325G>T:p.Val775=	coding	Benign/Likely_benign
16	50712357	G	A	G50712357A	NOD2	NM_022162.2(NOD2):c.2446G>A	coding	Pathogenic
16	50712383	A	C	A50712383C	NOD2	NM_001370466.1(NOD2):c.2381+10A>C	noncoding	Benign/Likely_benign
16	50716880	G	T	G50716880T	NOD2	NM_001370466.1(NOD2):c.2466-11G>T	noncoding	Benign/Likely_benign
16	50716915	C	T	C50716915T	NOD2	NM_001370466.1(NOD2):c.2490C>T:p.Asp830=	coding	Benign/Likely_benign
16	50716931	A	G	A50716931G	NOD2	NM_001370466.1(NOD2):c.2506A>G:p.Met836Val	coding	Benign/Likely_benign
16	50719998	C	A	C50719998A	NOD2	NM_001370466.1(NOD2):c.2623C>A:p.Gln875Lys	coding	Benign/Likely_benign
16	50723365	G	A	G50723365A	NOD2	NM_001370466.1(NOD2):c.2782G>A:p.Val928Ile	coding	Benign/Likely_benign
16	50732216	A	C	A50732216C	NOD2	NM_001370466.1(NOD2):c.*397A>C	noncoding	Benign
16	50732340	C	T	C50732340T	NOD2	NM_001370466.1(NOD2):c.*521C>T	noncoding	Benign
16	50732439	G	A	G50732439A	NOD2	NM_001370466.1(NOD2):c.*620G>A	noncoding	Benign/Likely_benign
16	50732696	C	A	C50732696A	NOD2	NM_001370466.1(NOD2):c.*877C>A	noncoding	Benign/Likely_benign
16	50732809	T	C	T50732809C	NOD2	NM_001370466.1(NOD2):c.*990T>C	noncoding	Benign/Likely_benign
16	50732842	C	T	C50732842T	NOD2	NM_001370466.1(NOD2):c.*1023C>T	noncoding	Benign/Likely_benign
16	50732975	G	A	G50732975A	NOD2	NM_001370466.1(NOD2):c.*1156G>A	noncoding	Benign
16	50749757	T	G	T50749757G	CYLD	NM_015247.2(CYLD):c.59T>G:p.Ile20Ser	coding	Benign
16	50749785	C	T	C50749785T	CYLD	NM_015247.2(CYLD):c.87C>T:p.Ser29=	coding	Benign
16	50749824	G	A	G50749824A	CYLD	NM_015247.2(CYLD):c.126G>A:p.Pro42=	coding	Benign
16	50754429	G	T	G50754429T	CYLD	NM_001042355.2(CYLD):c.913+5G>T	noncoding	Benign
16	50775183	C	A	C50775183A	CYLD	NM_015247.2(CYLD):c.922+9C>A	noncoding	Benign
16	50777915	C	A	C50777915A	CYLD	NM_015247.2(CYLD):c.1112C>A:p.Ser371Ter	coding	Pathogenic
16	50779698	T	C	T50779698C	CYLD	NM_015247.2(CYLD):c.1172T>C:p.Ile391Thr	coding	Benign
16	50779818	G	A	G50779818A	CYLD	NM_015247.2(CYLD):c.1292G>A:p.Gly431Glu	coding	Benign
16	50779853	C	T	C50779853T	CYLD	NM_015247.2(CYLD):c.1327C>T:p.Gln443Ter	coding	Pathogenic
16	50779889	C	T	C50779889T	CYLD	NM_015247.2(CYLD):c.1363C>T:p.Gln455Ter	coding	Pathogenic
16	50779999	C	T	C50779999T	CYLD	NM_015247.2(CYLD):c.1473C>T:p.Ile491=	coding	Benign
16	50782411	A	T	A50782411T	CYLD	NM_015247.2(CYLD):c.1771A>T:p.Lys591Ter	coding	Pathogenic
16	50782468	T	G	T50782468G	CYLD	NM_015247.2(CYLD):c.1826+2T>G	noncoding	Pathogenic
16	50787852	G	A	G50787852A	CYLD	NM_015247.2(CYLD):c.2108G>A:p.Arg703Lys	coding	Pathogenic
16	50791548	G	A	G50791548A	CYLD	NM_015247.2(CYLD):c.2109-10G>A	noncoding	Benign
16	50791689	A	G	A50791689G	CYLD	NM_015247.2(CYLD):c.2240A>G:p.Glu747Gly	coding	Pathogenic
16	50791695	G	A	G50791695A	CYLD	NM_001378743.1(CYLD):c.2241+5G>A	noncoding	Pathogenic
16	50792595	A	G	A50792595G	CYLD	NM_015247.2(CYLD):c.2242-2A>G	noncoding	Pathogenic
16	50792627	C	T	C50792627T	CYLD	NM_015247.2(CYLD):c.2272C>T:p.Arg758Ter	coding	Pathogenic
16	50792654	A	T	A50792654T	CYLD	NM_015247.2(CYLD):c.2299A>T:p.Lys767Ter	coding	Pathogenic
16	50792674	G	A	G50792674A	CYLD	NM_015247.2(CYLD):c.2319G>A:p.Leu773=	coding	Benign
16	50792706	G	T	G50792706T	CYLD	NM_015247.2(CYLD):c.2350+1G>T	coding	Pathogenic
16	50793607	C	T	C50793607T	CYLD	NM_015247.2(CYLD):c.2412C>T:p.Asp804=	coding	Benign
16	50793665	G	A	G50793665A	CYLD	NM_015247.2(CYLD):c.2469+1G>A	coding	Pathogenic
16	50793674	C	T	C50793674T	CYLD	NM_015247.2(CYLD):c.2469+10C>T	noncoding	Benign
16	50794311	C	T	C50794311T	CYLD	NM_015247.2(CYLD):c.2569C>T:p.Gln857Ter	coding	Pathogenic
16	50796443	C	T	C50796443T	CYLD	NM_015247.2(CYLD):c.2806C>T:p.Arg936Ter	coding	Pathogenic
16	50796555	G	A	G50796555A	CYLD	NM_015247.2(CYLD):c.*47G>A	noncoding	Benign
16	50796647	G	A	G50796647A	CYLD	NM_001042355.2(CYLD):c.*139G>A	noncoding	Benign
16	50796890	T	C	T50796890C	CYLD	NM_015247.2(CYLD):c.*382T>C	noncoding	Benign
16	50797206	T	G	T50797206G	CYLD	NM_015247.2(CYLD):c.*698T>G	noncoding	Benign
16	50797339	C	T	C50797339T	CYLD	NM_015247.2(CYLD):c.*831C>T	noncoding	Benign
16	50797345	A	G	A50797345G	CYLD	NM_015247.2(CYLD):c.*837A>G	noncoding	Benign
16	50797349	G	A	G50797349A	CYLD	NM_015247.2(CYLD):c.*841G>A	noncoding	Benign
16	50797849	T	G	T50797849G	CYLD	NM_015247.2(CYLD):c.*1341T>G	noncoding	Benign
16	50798083	G	A	G50798083A	CYLD	NM_015247.2(CYLD):c.*1575G>A	noncoding	Benign
16	50798098	T	C	T50798098C	CYLD	NM_015247.2(CYLD):c.*1590T>C	noncoding	Benign
16	50798339	G	A	G50798339A	CYLD	NM_015247.2(CYLD):c.*1831G>A	noncoding	Benign
16	50798658	A	G	A50798658G	CYLD	NM_015247.2(CYLD):c.*2150A>G	noncoding	Benign
16	50798744	C	T	C50798744T	CYLD	NM_015247.2(CYLD):c.*2236C>T	noncoding	Benign
16	50798843	T	C	T50798843C	CYLD	NM_015247.2(CYLD):c.*2335T>C	noncoding	Benign
16	50798877	G	A	G50798877A	CYLD	NM_015247.2(CYLD):c.*2369G>A	noncoding	Benign
16	50799123	A	G	A50799123G	CYLD	NM_015247.2(CYLD):c.*2615A>G	noncoding	Benign
16	50799154	G	A	G50799154A	CYLD	NM_015247.2(CYLD):c.*2646G>A	noncoding	Benign
16	50799218	C	T	C50799218T	CYLD	NM_015247.2(CYLD):c.*2710C>T	noncoding	Benign
16	50799578	A	G	A50799578G	CYLD	NM_015247.2(CYLD):c.*3070A>G	noncoding	Benign
16	50799977	T	C	T50799977C	CYLD	NM_015247.2(CYLD):c.*3469T>C	noncoding	Benign
16	50800122	C	A	C50800122A	CYLD	NM_015247.2(CYLD):c.*3614C>A	noncoding	Benign
16	50800187	T	C	T50800187C	CYLD	NM_015247.2(CYLD):c.*3679T>C	noncoding	Benign
16	50800244	G	A	G50800244A	CYLD	NM_015247.2(CYLD):c.*3736G>A	noncoding	Benign
16	50800247	C	G	C50800247G	CYLD	NM_015247.2(CYLD):c.*3739C>G	noncoding	Benign
16	50801069	G	A	G50801069A	CYLD	NM_015247.2(CYLD):c.*4561G>A	noncoding	Benign
16	50801075	C	T	C50801075T	CYLD	NM_015247.2(CYLD):c.*4567C>T	noncoding	Benign
16	50801594	A	G	A50801594G	CYLD	NM_015247.2(CYLD):c.*5086A>G	noncoding	Benign
16	50801780	C	T	C50801780T	CYLD	NM_015247.2(CYLD):c.*5272C>T	noncoding	Benign
16	51137145	G	A	G51137145A	SALL1	NM_002968.2(SALL1):c.3942C>T:p.Phe1314=	coding	Benign
16	51137172	G	A	G51137172A	SALL1	NM_002968.2(SALL1):c.3915C>T:p.Asn1305=	coding	Benign/Likely_benign
16	51137215	T	C	T51137215C	SALL1	NM_002968.2(SALL1):c.3872A>G:p.Asn1291Ser	coding	Benign/Likely_benign
16	51137264	C	T	C51137264T	SALL1	NM_002968.2(SALL1):c.3823G>A:p.Val1275Ile	coding	Benign
16	51137293	C	T	C51137293T	SALL1	NM_002968.2(SALL1):c.3794G>A:p.Gly1265Glu	coding	Benign/Likely_benign
16	51137759	C	T	C51137759T	SALL1	NM_002968.2(SALL1):c.3535-207G>A	noncoding	Benign
16	51138766	G	A	G51138766A	SALL1	NM_002968.2(SALL1):c.3456C>T:p.His1152=	coding	Benign
16	51139000	C	T	C51139000T	SALL1	NM_002968.2(SALL1):c.3222G>A:p.Ala1074=	coding	Benign
16	51139042	G	T	G51139042T	SALL1	NM_002968.2(SALL1):c.3180C>A:p.Leu1060=	coding	Benign/Likely_benign
16	51139648	G	A	G51139648A	SALL1	NM_002968.2(SALL1):c.2574C>T:p.Leu858=	coding	Benign
16	51139678	T	C	T51139678C	SALL1	NM_002968.2(SALL1):c.2544A>G:p.Gln848=	coding	Benign
16	51139879	C	G	C51139879G	SALL1	NM_002968.2(SALL1):c.2343G>C:p.Leu781=	coding	Benign
16	51139912	G	A	G51139912A	SALL1	NM_002968.2(SALL1):c.2310C>T:p.Ile770=	coding	Benign
16	51140044	C	T	C51140044T	SALL1	NM_002968.2(SALL1):c.2178G>A:p.Arg726=	coding	Benign
16	51140318	G	A	G51140318A	SALL1	NM_002968.2(SALL1):c.1904C>T:p.Pro635Leu	coding	Benign/Likely_benign
16	51140344	C	G	C51140344G	SALL1	NM_002968.2(SALL1):c.1878G>C:p.Glu626Asp	coding	Benign/Likely_benign
16	51140349	C	A	C51140349A	SALL1	NM_002968.3(SALL1):c.1873G>T:p.Glu625Ter	coding	Pathogenic
16	51140829	G	A	G51140829A	SALL1	NM_002968.2(SALL1):c.1393C>T:p.Gln465Ter	coding	Pathogenic
16	51140966	A	T	A51140966T	SALL1	NM_002968.2(SALL1):c.1256T>A:p.Leu419Ter	coding	Pathogenic
16	51141022	C	T	C51141022T	SALL1	NM_002968.3(SALL1):c.1200G>A:p.Ser400=	coding	Benign
16	51141107	G	C	G51141107C	SALL1	NM_002968.2(SALL1):c.1115C>G:p.Ser372Ter	coding	Pathogenic
16	51141107	G	T	G51141107T	SALL1	NM_002968.2(SALL1):c.1115C>A:p.Ser372Ter	coding	Pathogenic
16	51141255	G	A	G51141255A	SALL1	NM_002968.2(SALL1):c.967C>T:p.Gln323Ter	coding	Pathogenic
16	51141264	G	A	G51141264A	SALL1	NM_002968.2(SALL1):c.958C>T:p.Gln320Ter	coding	Pathogenic
16	51141351	G	A	G51141351A	SALL1	NM_002968.3(SALL1):c.871C>T:p.Gln291Ter	coding	Pathogenic
16	51141356	A	T	A51141356T	SALL1	NM_002968.2(SALL1):c.866T>A:p.Leu289Ter	coding	Pathogenic
16	51141396	G	A	G51141396A	SALL1	NM_002968.2(SALL1):c.826C>T:p.Arg276Ter	coding	Pathogenic
16	51141408	G	A	G51141408A	SALL1	NM_002968.2(SALL1):c.814C>T:p.Gln272Ter	coding	Pathogenic
16	51141413	G	A	G51141413A	SALL1	NM_002968.2(SALL1):c.809C>T:p.Pro270Leu	coding	Benign/Likely_benign
16	51141495	G	A	G51141495A	SALL1	NM_002968.2(SALL1):c.727C>T:p.Gln243Ter	coding	Pathogenic
16	51141685	G	A	G51141685A	SALL1	NM_002968.2(SALL1):c.537C>T:p.Leu179=	coding	Benign
16	51141744	C	T	C51141744T	SALL1	NM_002968.2(SALL1):c.478G>A:p.Gly160Ser	coding	Benign
16	51141747	T	C	T51141747C	SALL1	NM_002968.2(SALL1):c.475A>G:p.Ser159Gly	coding	Benign
16	51141750	T	C	T51141750C	SALL1	NM_002968.2(SALL1):c.472A>G:p.Ser158Gly	coding	Benign/Likely_benign
16	51141832	C	T	C51141832T	SALL1	NM_002968.2(SALL1):c.390G>A:p.Pro130=	coding	Benign
16	51141843	C	G	C51141843G	SALL1	NM_002968.2(SALL1):c.379G>C:p.Val127Leu	coding	Benign/Likely_benign
16	51141930	T	C	T51141930C	SALL1	NM_002968.2(SALL1):c.292A>G:p.Met98Val	coding	Benign
16	51141958	G	A	G51141958A	SALL1	NM_002968.2(SALL1):c.264C>T:p.Ser88=	coding	Benign
16	51141987	C	G	C51141987G	SALL1	NM_002968.2(SALL1):c.235G>C:p.Ala79Pro	coding	Benign
16	52439419	G	A	G52439419A	TOX3	NM_001080430.4(TOX3):c.1537C>T:p.Arg513Cys	coding	Benign
16	52439807	G	A	G52439807A	TOX3	NM_001080430.4(TOX3):c.1149C>T:p.Ile383=	coding	Benign
16	52450405	C	T	C52450405T	TOX3	NM_001080430.4(TOX3):c.550G>A:p.Ala184Thr	coding	Benign
16	53324329	A	G	A53324329G	CHD9	NM_001308319.1(CHD9):c.8128A>G:p.Met2710Val	coding	Benign
16	53434718	C	T	C53434718T	RBL2	NM_005611.4(RBL2):c.162C>T:p.Ser54=	coding	Benign
16	53442709	A	G	A53442709G	RBL2	NM_005611.4(RBL2):c.423A>G:p.Leu141=	coding	Benign
16	53464311	A	T	A53464311T	RBL2	NM_005611.4(RBL2):c.1646A>T:p.Asn549Ile	coding	Benign
16	53470624	A	T	A53470624T	RBL2	NM_005611.4(RBL2):c.2487A>T:p.Arg829Ser	coding	Benign
16	53470775	G	A	G53470775A	RBL2	NM_005611.4(RBL2):c.2556G>A:p.Arg852=	coding	Benign
16	53600383	C	T	C53600383T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1693G>A	noncoding	Benign
16	53601339	A	C	A53601339C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*737T>G	noncoding	Benign
16	53602021	A	T	A53602021T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*55T>A	noncoding	Benign
16	53602088	G	A	G53602088A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3936C>T:p.Asp1312=	coding	Benign
16	53602497	C	T	C53602497T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3836-309G>A	noncoding	Benign
16	53605526	C	T	C53605526T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3790G>A:p.Asp1264Asn	coding	Benign
16	53610966	C	A	C53610966A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3701+1G>T	noncoding	Pathogenic
16	53619093	G	C	G53619093C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3548C>G:p.Ala1183Gly	coding	Benign/Likely_benign
16	53619112	G	A	G53619112A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3529C>T:p.Arg1177Ter	coding	Pathogenic
16	53637794	T	A	T53637794A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3121A>T:p.Lys1041Ter	coding	Pathogenic
16	53637842	C	T	C53637842T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3073G>A:p.Gly1025Ser	coding	Benign
16	53638426	A	G	A53638426G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2959-15T>C	noncoding	Benign/Likely_benign
16	53638443	C	T	C53638443T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2959-32G>A	noncoding	Benign
16	53638676	T	C	T53638676C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2959-265A>G	noncoding	Benign
16	53641399	G	T	G53641399T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2760C>A:p.Tyr920Ter	coding	Pathogenic
16	53645857	G	C	G53645857C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2451C>G:p.Tyr817Ter	coding	Pathogenic
16	53645895	G	A	G53645895A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2413C>T:p.Arg805Ter	coding	Pathogenic
16	53646004	C	T	C53646004T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-1G>A	coding	Pathogenic
16	53648965	G	T	G53648965T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2303C>A:p.Ser768Ter	coding	Pathogenic
16	53648969	G	A	G53648969A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2299C>T:p.Gln767Ter	coding	Pathogenic
16	53649037	C	T	C53649037T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2231G>A:p.Arg744Gln	coding	Benign
16	53649038	G	A	G53649038A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2230C>T:p.Arg744Ter	coding	Pathogenic
16	53649068	G	A	G53649068A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2200C>T:p.Arg734Ter	coding	Pathogenic/Likely_pathogenic
16	53652562	G	A	G53652562A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2125C>T:p.Arg709Ter	coding	Pathogenic
16	53652583	C	A	C53652583A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2104G>T:p.Glu702Ter	coding	Pathogenic
16	53652604	C	G	C53652604G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2083G>C:p.Ala695Pro	coding	Pathogenic
16	53652637	G	A	G53652637A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T:p.Gln684Ter	coding	Pathogenic
16	53652657	G	A	G53652657A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2030C>T:p.Thr677Ile	coding	Benign/Likely_benign
16	53652712	A	G	A53652712G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1975T>C:p.Ser659Pro	coding	Pathogenic
16	53652742	G	A	G53652742A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1945C>T:p.Arg649Ter	coding	Pathogenic
16	53652743	C	T	C53652743T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1944G>A:p.Val648=	coding	Benign
16	53652814	C	A	C53652814A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1873G>T:p.Gly625Ter	coding	Pathogenic
16	53652844	T	G	T53652844G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1843A>C:p.Thr615Pro	coding	Pathogenic
16	53652879	C	T	C53652879T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1808G>A:p.Gly603Asp	coding	Benign
16	53652883	G	A	G53652883A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1804C>T:p.Arg602Ter	coding	Pathogenic/Likely_pathogenic
16	53652888	A	C	A53652888C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1799T>G:p.Leu600Ter	coding	Pathogenic
16	53652988	C	T	C53652988T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1700-1G>A	coding	Pathogenic
16	53653168	C	T	C53653168T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1700-181G>A	noncoding	Benign
16	53656522	T	C	T53656522C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1649A>G:p.Gln550Arg	coding	Pathogenic
16	53657545	C	A	C53657545A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1489G>T:p.Glu497Ter	coding	Pathogenic
16	53658287	T	C	T53658287C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1401+127A>G	noncoding	Benign
16	53658781	C	T	C53658781T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1341G>A:p.Leu447=	coding	Benign/Likely_benign
16	53664764	T	C	T53664764C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+106A>G	noncoding	Benign
16	53664869	C	T	C53664869T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+1G>A	noncoding	Pathogenic
16	53664993	G	A	G53664993A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1120C>T:p.His374Tyr	coding	Benign
16	53665091	G	A	G53665091A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1104-82C>T	noncoding	Benign
16	53671561	A	T	A53671561T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1052T>A:p.Leu351Ter	coding	Pathogenic
16	53671580	G	A	G53671580A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1033C>T:p.Gln345Ter	coding	Pathogenic
16	53672953	G	A	G53672953A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.946C>T:p.Gln316Ter	coding	Pathogenic
16	53686452	G	A	G53686452A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.757C>T:p.Gln253Ter	coding	Pathogenic
16	53686458	G	A	G53686458A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.751C>T:p.Arg251Ter	coding	Pathogenic/Likely_pathogenic
16	53686464	G	A	G53686464A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.745C>T:p.Gln249Ter	coding	Pathogenic
16	53686524	C	T	C53686524T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.685G>A:p.Ala229Thr	coding	Benign
16	53687912	T	A	T53687912A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.583A>T:p.Lys195Ter	coding	Pathogenic
16	53687994	C	T	C53687994T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.530-29G>A	noncoding	Benign
16	53688245	C	T	C53688245T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.530-280G>A	noncoding	Benign
16	53692201	T	A	T53692201A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.394A>T:p.Arg132Ter	coding	Pathogenic
16	53692285	G	A	G53692285A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.310C>T:p.Arg104Ter	coding	Pathogenic
16	53692340	T	C	T53692340C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.255A>G:p.Leu85=	coding	Benign/Likely_benign
16	53696175	C	T	C53696175T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.206G>A:p.Arg69His	coding	Benign
16	53696185	G	A	G53696185A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.196C>T:p.Gln66Ter	coding	Pathogenic
16	53696258	T	C	T53696258C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.123A>G:p.Ala41=	coding	Benign
16	53696263	G	A	G53696263A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.118C>T:p.Gln40Ter	coding	Pathogenic
16	53704196	C	G	C53704196G	FTO	NM_001080432.3(FTO):c.12C>G:p.Thr4=	coding	Benign
16	53810193	C	T	C53810193T	FTO	NM_001080432.3(FTO):c.99C>T:p.Pro33=	coding	Benign/Likely_benign
16	53826140	G	A	G53826140A	FTO	NM_001080432.3(FTO):c.400G>A:p.Ala134Thr	coding	Benign
16	53826285	G	C	G53826285C	FTO	NM_001080432.3(FTO):c.545G>C:p.Gly182Ala	coding	Benign/Likely_benign
16	53873837	G	A	G53873837A	FTO	NM_001080432.3(FTO):c.947G>A:p.Arg316Gln	coding	Pathogenic
16	53873846	C	T	C53873846T	FTO	NM_001080432.3(FTO):c.956C>T:p.Ser319Phe	coding	Pathogenic
16	53879870	T	C	T53879870C	FTO	NM_001080432.3(FTO):c.1002T>C:p.Ile334=	coding	Benign
16	53888926	C	T	C53888926T	FTO	NM_001080432.3(FTO):c.1214C>T:p.Ala405Val	coding	Benign
16	54112031	C	T	C54112031T	FTO	NM_001080432.3(FTO):c.*116C>T	noncoding	Benign
16	54112534	A	C	A54112534C	FTO	NM_001080432.3(FTO):c.*619A>C	noncoding	Benign
16	54112636	T	G	T54112636G	FTO	NM_001080432.3(FTO):c.*721T>G	noncoding	Benign
16	54112846	C	A	C54112846A	FTO	NM_001080432.3(FTO):c.*931C>A	noncoding	Benign
16	54112986	G	C	G54112986C	FTO	NM_001080432.3(FTO):c.*1071G>C	noncoding	Benign
16	54112997	G	A	G54112997A	FTO	NM_001080432.3(FTO):c.*1082G>A	noncoding	Benign
16	54113230	C	T	C54113230T	FTO	NM_001080432.3(FTO):c.*1315C>T	noncoding	Benign
16	54113246	G	A	G54113246A	FTO	NM_001080432.3(FTO):c.*1331G>A	noncoding	Benign
16	54113295	G	T	G54113295T	FTO	NM_001080432.3(FTO):c.*1380G>T	noncoding	Benign
16	54113318	C	T	C54113318T	FTO	NM_001080432.3(FTO):c.*1403C>T	noncoding	Benign
16	54113775	A	C	A54113775C	FTO	NM_001080432.3(FTO):c.*1860A>C	noncoding	Benign
16	54114095	C	T	C54114095T	FTO	NM_001080432.3(FTO):c.*2180C>T	noncoding	Benign
16	54114125	A	G	A54114125G	FTO	NM_001080432.3(FTO):c.*2210A>G	noncoding	Benign
16	54114164	A	T	A54114164T	FTO	NM_001080432.3(FTO):c.*2249A>T	noncoding	Benign
16	54114216	G	A	G54114216A	FTO	NM_001080432.3(FTO):c.*2301G>A	noncoding	Benign
16	54114249	G	A	G54114249A	FTO	NM_001080432.3(FTO):c.*2334G>A	noncoding	Benign
16	54114277	G	T	G54114277T	FTO	NM_001080432.3(FTO):c.*2362G>T	noncoding	Benign
16	54114357	A	T	A54114357T	FTO	NM_001080432.3(FTO):c.*2442A>T	noncoding	Benign
16	54114466	G	A	G54114466A	FTO	NM_001080432.3(FTO):c.*2551G>A	noncoding	Benign
16	54285422	G	T	G54285422T	IRX3	NM_024336.3(IRX3):c.459C>A:p.Pro153=	coding	Benign
16	54285470	C	T	C54285470T	IRX3	NM_024336.3(IRX3):c.411G>A:p.Glu137=	coding	Benign
16	54932696	G	C	G54932696C	IRX5	NM_005853.6(IRX5):c.448G>C:p.Ala150Pro	coding	Pathogenic
16	54932746	C	A	C54932746A	IRX5	NM_005853.6(IRX5):c.498C>A:p.Asn166Lys	coding	Pathogenic
16	54933297	C	T	C54933297T	IRX5	NM_005853.6(IRX5):c.876C>T:p.Pro292=	coding	Benign
16	54933513	G	A	G54933513A	IRX5	NM_005853.6(IRX5):c.1092G>A:p.Gly364=	coding	Benign
16	54933566	C	G	C54933566G	IRX5	NM_005853.6(IRX5):c.1145C>G:p.Pro382Arg	coding	Benign
16	55479419	G	C	G55479419C	MMP2	NM_004530.6(MMP2):c.-61G>C	noncoding	Benign
16	55479530	C	T	C55479530T	MMP2	NM_004530.6(MMP2):c.51C>T:p.Leu17=	coding	Benign/Likely_benign
16	55483057	G	A	G55483057A	MMP2	NM_004530.6(MMP2):c.302G>A:p.Arg101His	coding	Pathogenic
16	55484131	G	A	G55484131A	MMP2	NM_004530.6(MMP2):c.496G>A:p.Glu166Lys	coding	Benign/Likely_benign
16	55485623	G	C	G55485623C	MMP2	NM_004530.6(MMP2):c.678G>C:p.Gly226=	coding	Benign
16	55485677	C	A	C55485677A	MMP2	NM_004530.6(MMP2):c.732C>A:p.Tyr244Ter	coding	Pathogenic
16	55485695	C	T	C55485695T	MMP2	NM_004530.6(MMP2):c.750C>T:p.Thr250=	coding	Benign
16	55485789	C	T	C55485789T	MMP2	NM_004530.6(MMP2):c.832+12C>T	noncoding	Benign
16	55489710	C	T	C55489710T	MMP2	NM_004530.6(MMP2):c.1066C>T:p.Leu356=	coding	Benign
16	55489742	C	T	C55489742T	MMP2	NM_004530.6(MMP2):c.1098C>T:p.Ala366=	coding	Benign
16	55489793	T	C	T55489793C	MMP2	NM_004530.6(MMP2):c.1149T>C:p.Asp383=	coding	Benign
16	55491830	G	A	G55491830A	MMP2	NM_004530.6(MMP2):c.1210G>A:p.Glu404Lys	coding	Pathogenic
16	55491847	G	A	G55491847A	MMP2	NM_004530.6(MMP2):c.1227G>A:p.Met409Ile	coding	Benign
16	55491966	C	T	C55491966T	MMP2	NM_004530.6(MMP2):c.1336+10C>T	noncoding	Benign
16	55493151	T	C	T55493151C	MMP2	NM_004530.6(MMP2):c.1337-7T>C	noncoding	Benign/Likely_benign
16	55493161	C	T	C55493161T	MMP2	NM_004530.6(MMP2):c.1340C>T:p.Ala447Val	coding	Benign
16	55493201	G	A	G55493201A	MMP2	NM_004530.6(MMP2):c.1380G>A:p.Thr460=	coding	Benign
16	55496952	G	A	G55496952A	MMP2	NM_004530.6(MMP2):c.1499G>A:p.Arg500His	coding	Benign
16	55497001	C	T	C55497001T	MMP2	NM_004530.6(MMP2):c.1548C>T:p.Leu516=	coding	Benign
16	55497022	A	G	A55497022G	MMP2	NM_004530.6(MMP2):c.1569A>G:p.Val523=	coding	Benign/Likely_benign
16	55498327	C	T	C55498327T	MMP2	NM_004530.6(MMP2):c.1648C>T:p.Arg550Ter	coding	Pathogenic
16	55502775	A	G	A55502775G	MMP2	NM_004530.6(MMP2):c.1770-4A>G	noncoding	Benign
16	55502815	C	T	C55502815T	MMP2	NM_004530.6(MMP2):c.1806C>T:p.Phe602=	coding	Benign
16	55502851	C	G	C55502851G	MMP2	NM_004530.6(MMP2):c.1842C>G:p.Pro614=	coding	Benign
16	55502870	G	C	G55502870C	MMP2	NM_004530.6(MMP2):c.1861G>C:p.Val621Leu	coding	Benign
16	55505535	C	T	C55505535T	MMP2	NM_004530.6(MMP2):c.*93C>T	noncoding	Benign
16	55505553	G	A	G55505553A	MMP2	NM_004530.6(MMP2):c.*111G>A	noncoding	Benign
16	55505601	T	C	T55505601C	MMP2	NM_004530.6(MMP2):c.*159T>C	noncoding	Benign
16	55505612	G	A	G55505612A	MMP2	NM_004530.6(MMP2):c.*170G>A	noncoding	Benign
16	55505625	A	G	A55505625G	MMP2	NM_004530.6(MMP2):c.*183A>G	noncoding	Benign
16	55505702	A	C	A55505702C	MMP2	NM_004530.6(MMP2):c.*260A>C	noncoding	Benign
16	55505842	G	A	G55505842A	MMP2	NM_004530.6(MMP2):c.*400G>A	noncoding	Benign
16	55506111	C	G	C55506111G	MMP2	NM_004530.6(MMP2):c.*669C>G	noncoding	Benign
16	55506314	C	T	C55506314T	MMP2	NM_004530.6(MMP2):c.*872C>T	noncoding	Benign
16	55506504	C	T	C55506504T	MMP2	NM_004530.6(MMP2):c.*1062C>T	noncoding	Benign
16	55525601	G	A	G55525601A	LPCAT2	NM_017839.5(LPCAT2):c.265G>A:p.Val89Ile	coding	Benign
16	55528447	G	A	G55528447A	LPCAT2	NM_017839.5(LPCAT2):c.382G>A:p.Val128Ile	coding	Benign
16	55579140	C	T	C55579140T	LPCAT2	NM_017839.5(LPCAT2):c.1346C>T:p.Thr449Met	coding	Benign
16	55656811	C	T	C55656811T	SLC6A2	NM_001172504.1(SLC6A2):c.117C>T:p.Arg39=	coding	Benign
16	55669586	C	T	C55669586T	SLC6A2	NM_001172504.1(SLC6A2):c.296C>T:p.Thr99Ile	coding	Benign
16	55685231	G	A	G55685231A	SLC6A2	NM_001172504.1(SLC6A2):c.733G>A:p.Val245Ile	coding	Benign
16	55691982	C	G	C55691982G	SLC6A2	NM_001172504.1(SLC6A2):c.848C>G:p.Thr283Arg	coding	Benign
16	55695278	G	A	G55695278A	SLC6A2	NM_001172504.1(SLC6A2):c.1023G>A:p.Arg341=	coding	Benign
16	55698004	C	T	C55698004T	SLC6A2	NM_001172504.1(SLC6A2):c.1368C>T:p.Leu456=	coding	Benign
16	55698005	G	C	G55698005C	SLC6A2	NM_001172504.1(SLC6A2):c.1369G>C:p.Ala457Pro	coding	Pathogenic
16	55701883	G	A	G55701883A	SLC6A2	NM_001172504.1(SLC6A2):c.1779G>A:p.Thr593=	coding	Benign
16	55701930	T	A	T55701930A	SLC6A2	NM_001172504.1(SLC6A2):c.1826T>A:p.Phe609Tyr	coding	Benign
16	55823661	C	T	C55823661T	CES1	NM_001025195.2(CES1):c.428G>A:p.Gly143Glu	coding	Pathogenic
16	55846598	G	A	G55846598A	CES5A	NM_001143685.2(CES5A):c.1581C>T:p.Leu527=	coding	Benign
16	56192353	G	T	G56192353T	GNAO1	NM_020988.3(GNAO1):c.118G>T:p.Gly40Trp	coding	Pathogenic
16	56192574	G	A	G56192574A	GNAO1	NM_020988.3(GNAO1):c.119G>A:p.Gly40Glu	coding	Pathogenic
16	56192588	G	C	G56192588C	GNAO1	NM_020988.3(GNAO1):c.133G>C:p.Gly45Arg	coding	Pathogenic
16	56192624	C	T	C56192624T	GNAO1	NM_020988.3(GNAO1):c.161+8C>T	coding	Benign
16	56328741	A	G	A56328741G	GNAO1	NM_020988.3(GNAO1):c.414A>G:p.Gln138=	coding	Benign/Likely_benign
16	56328752	A	G	A56328752G	GNAO1	NM_020988.3(GNAO1):c.425A>G:p.Asn142Ser	coding	Benign
16	56328777	C	T	C56328777T	GNAO1	NM_020988.3(GNAO1):c.450C>T:p.Asn150=	coding	Benign
16	56334777	C	T	C56334777T	GNAO1	NM_020988.3(GNAO1):c.513C>T:p.Thr171=	coding	Benign
16	56334785	A	G	A56334785G	GNAO1	NM_020988.3(GNAO1):c.521A>G:p.Asp174Gly	coding	Pathogenic
16	56336744	G	A	G56336744A	GNAO1	NM_020988.3(GNAO1):c.607G>A:p.Gly203Arg	coding	Pathogenic
16	56336744	G	C	G56336744C	GNAO1	NM_020988.3(GNAO1):c.607G>C:p.Gly203Arg	coding	Pathogenic
16	56336757	C	A	C56336757A	GNAO1	NM_020988.3(GNAO1):c.620C>A:p.Ser207Tyr	coding	Pathogenic
16	56336762	C	G	C56336762G	GNAO1	NM_020988.3(GNAO1):c.625C>G:p.Arg209Gly	coding	Pathogenic
16	56336762	C	T	C56336762T	GNAO1	NM_020988.3(GNAO1):c.625C>T:p.Arg209Cys	coding	Pathogenic
16	56336763	G	A	G56336763A	GNAO1	NM_020988.3(GNAO1):c.626G>A:p.Arg209His	coding	Pathogenic
16	56336763	G	T	G56336763T	GNAO1	NM_020988.3(GNAO1):c.626G>T:p.Arg209Leu	coding	Pathogenic/Likely_pathogenic
16	56336791	C	T	C56336791T	GNAO1	NM_020988.3(GNAO1):c.654C>T:p.Asp218=	coding	Benign/Likely_benign
16	56336817	C	T	C56336817T	GNAO1	NM_020988.3(GNAO1):c.680C>T:p.Ala227Val	coding	Pathogenic/Likely_pathogenic
16	56336824	C	T	C56336824T	GNAO1	NM_020988.3(GNAO1):c.687C>T:p.Ser229=	coding	Benign/Likely_benign
16	56336829	A	G	A56336829G	GNAO1	NM_020988.3(GNAO1):c.692A>G:p.Tyr231Cys	coding	Pathogenic
16	56336846	G	A	G56336846A	GNAO1	NM_020988.3(GNAO1):c.709G>A:p.Glu237Lys	coding	Pathogenic/Likely_pathogenic
16	56336861	G	A	G56336861A	GNAO1	NM_020988.3(GNAO1):c.723+1G>A	coding	Pathogenic
16	56340880	A	G	A56340880G	GNAO1	NM_020988.3(GNAO1):c.723+4020A>G	coding	Benign
16	56340959	G	A	G56340959A	GNAO1	NM_020988.3(GNAO1):c.723+4099G>A	coding	Benign
16	56343836	A	G	A56343836G	GNAO1	NM_020988.3(GNAO1):c.723+6976A>G	coding	Benign
16	56351375	C	T	C56351375T	GNAO1	NM_020988.3(GNAO1):c.724-9C>T	noncoding	Benign
16	56351376	G	A	G56351376A	GNAO1	NM_020988.3(GNAO1):c.724-8G>A	noncoding	Pathogenic
16	56351385	A	C	A56351385C	GNAO1	NM_020988.3(GNAO1):c.725A>C:p.Asn242Thr	coding	Pathogenic
16	56351396	G	A	G56351396A	GNAO1	NM_020988.3(GNAO1):c.736G>A:p.Glu246Lys	coding	Pathogenic
16	56351397	A	G	A56351397G	GNAO1	NM_020988.3(GNAO1):c.737A>G:p.Glu246Gly	coding	Pathogenic
16	56351496	T	A	T56351496A	GNAO1	NM_020988.3(GNAO1):c.836T>A:p.Ile279Asn	coding	Pathogenic
16	56351511	T	C	T56351511C	GNAO1	NM_020988.3(GNAO1):c.851T>C:p.Leu284Ser	coding	Pathogenic
16	56354909	A	G	A56354909G	GNAO1	NM_020988.3(GNAO1):c.921A>G:p.Gln307=	coding	Benign
16	56354981	C	T	C56354981T	GNAO1	NM_020988.3(GNAO1):c.993C>T:p.Asn331=	coding	Benign
16	56355005	C	A	C56355005A	GNAO1	NM_020988.3(GNAO1):c.1017C>A:p.Val339=	coding	Benign
16	56434354	A	G	A56434354G	NUDT21	NM_007006.3(NUDT21):c.639T>C:p.Ser213=	coding	Benign
16	56434401	A	G	A56434401G	NUDT21	NM_007006.3(NUDT21):c.592T>C:p.Leu198=	coding	Benign
16	56484445	T	C	T56484445C	BBS2	NM_031885.4(BBS2):c.*316A>G	noncoding	Benign
16	56484748	G	A	G56484748A	BBS2	NM_031885.4(BBS2):c.*13C>T	noncoding	Benign/Likely_benign
16	56484848	C	T	C56484848T	BBS2	NM_031885.4(BBS2):c.2079G>A:p.Gln693=	coding	Benign
16	56496982	C	G	C56496982G	BBS2	NM_031885.4(BBS2):c.1895G>C:p.Arg632Pro	coding	Pathogenic/Likely_pathogenic
16	56497013	G	A	G56497013A	BBS2	NM_031885.4(BBS2):c.1864C>T:p.Arg622Ter	coding	Pathogenic/Likely_pathogenic
16	56497063	G	C	G56497063C	BBS2	NM_031885.4(BBS2):c.1814C>G:p.Ser605Ter	coding	Pathogenic/Likely_pathogenic
16	56497760	G	A	G56497760A	BBS2	NM_031885.4(BBS2):c.1780C>T:p.Arg594Ter	coding	Pathogenic/Likely_pathogenic
16	56497835	G	A	G56497835A	BBS2	NM_031885.4(BBS2):c.1705C>T:p.Gln569Ter	coding	Pathogenic
16	56498434	T	C	T56498434C	BBS2	NM_031885.4(BBS2):c.1659+3A>G	noncoding	Benign/Likely_benign
16	56498550	G	A	G56498550A	BBS2	NM_031885.4(BBS2):c.1546C>T:p.Gln516Ter	coding	Pathogenic
16	56499794	G	A	G56499794A	BBS2	NM_031885.4(BBS2):c.1511C>T:p.Ala504Val	coding	Benign/Likely_benign
16	56499867	G	A	G56499867A	BBS2	NM_031885.4(BBS2):c.1438C>T:p.Arg480Ter	coding	Pathogenic/Likely_pathogenic
16	56499892	T	G	T56499892G	BBS2	NM_031885.4(BBS2):c.1413A>C:p.Val471=	coding	Benign/Likely_benign
16	56501014	G	A	G56501014A	BBS2	NM_031885.4(BBS2):c.1237C>T:p.Arg413Ter	coding	Pathogenic/Likely_pathogenic
16	56501444	T	C	T56501444C	BBS2	NM_031885.4(BBS2):c.1134A>G:p.Pro378=	coding	Benign/Likely_benign
16	56501468	A	G	A56501468G	BBS2	NM_031885.4(BBS2):c.1110T>C:p.Ala370=	coding	Benign
16	56502335	G	C	G56502335C	BBS2	NM_031885.4(BBS2):c.1062C>G:p.Asn354Lys	coding	Pathogenic
16	56502382	G	A	G56502382A	BBS2	NM_031885.4(BBS2):c.1015C>T:p.Arg339Ter	coding	Pathogenic/Likely_pathogenic
16	56502748	T	C	T56502748C	BBS2	NM_031885.4(BBS2):c.865A>G:p.Ile289Val	coding	Benign
16	56502790	G	A	G56502790A	BBS2	NM_031885.4(BBS2):c.823C>T:p.Arg275Ter	coding	Pathogenic
16	56502799	G	A	G56502799A	BBS2	NM_031885.4(BBS2):c.814C>T:p.Arg272Ter	coding	Pathogenic
16	56506137	G	A	G56506137A	BBS2	NM_031885.4(BBS2):c.700C>T:p.Arg234Ter	coding	Pathogenic
16	56506191	G	A	G56506191A	BBS2	NM_031885.4(BBS2):c.646C>T:p.Arg216Ter	coding	Pathogenic
16	56509945	G	T	G56509945T	BBS2	NM_031885.4(BBS2):c.612+12C>A	noncoding	Benign
16	56510004	G	A	G56510004A	BBS2	NM_031885.4(BBS2):c.565C>T:p.Arg189Ter	coding	Pathogenic
16	56510036	T	C	T56510036C	BBS2	NM_031885.4(BBS2):c.535-2A>G	noncoding	Pathogenic
16	56510858	C	A	C56510858A	BBS2	NM_031885.4(BBS2):c.534+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	56510871	A	T	A56510871T	BBS2	NM_031885.4(BBS2):c.522T>A:p.Asp174Glu	coding	Pathogenic
16	56510923	T	C	T56510923C	BBS2	NM_031885.4(BBS2):c.472-2A>G	noncoding	Pathogenic
16	56511214	C	A	C56511214A	BBS2	NM_031885.4(BBS2):c.416G>T:p.Gly139Val	coding	Pathogenic
16	56511263	T	C	T56511263C	BBS2	NM_031885.4(BBS2):c.367A>G:p.Ile123Val	coding	Benign
16	56514487	T	G	T56514487G	BBS2	NM_031885.4(BBS2):c.311A>C:p.Asp104Ala	coding	Pathogenic/Likely_pathogenic
16	56514589	C	T	C56514589T	BBS2	NM_031885.4(BBS2):c.209=:p.Asn70=	coding	Benign
16	56514623	G	A	G56514623A	BBS2	NM_031885.4(BBS2):c.175C>T:p.Gln59Ter	coding	Pathogenic
16	56514681	C	G	C56514681G	BBS2	NM_031885.4(BBS2):c.118-1G>C	coding	Pathogenic
16	56519791	G	C	G56519791C	BBS2	NM_031885.4(BBS2):c.72C>G:p.Tyr24Ter	coding	Pathogenic/Likely_pathogenic
16	56519902	A	G	A56519902G	BBS2	NM_031885.4(BBS2):c.-40T>C	noncoding	Benign/Likely_benign
16	56519904	A	C	A56519904C	BBS2	NM_031885.4(BBS2):c.-42T>G	noncoding	Benign/Likely_benign
16	56519999	G	C	G56519999C	BBS2	NM_031885.4(BBS2):c.-137C>G	noncoding	Benign
16	56520053	C	A	C56520053A	BBS2	NM_031885.3(BBS2):c.-191G>T	noncoding	Benign
16	56520087	G	A	G56520087A	BBS2	NM_031885.3(BBS2):c.-225C>T	noncoding	Benign
16	56520104	A	G	A56520104G	BBS2	NM_031885.3(BBS2):c.-242T>C	noncoding	Benign
16	56590942	G	A	G56590942A	MT3	NM_005954.4(MT3):c.200G>A:p.Cys67Tyr	coding	Benign
16	56659146	G	C	G56659146C	MT1F	NM_005949.4(MT1F):c.168G>C:p.Lys56Asn	coding	Benign
16	56748364	G	A	G56748364A	NUP93	NM_014669.5(NUP93):c.117G>A:p.Ala39=	coding	Benign
16	56821575	C	T	C56821575T	NUP93	NM_014669.5(NUP93):c.636C>T:p.Val212=	coding	Benign
16	56823768	C	T	C56823768T	NUP93	NM_014669.5(NUP93):c.716C>T:p.Thr239Met	coding	Benign
16	56823841	G	A	G56823841A	NUP93	NM_014669.5(NUP93):c.789G>A:p.Glu263=	coding	Benign
16	56833407	G	A	G56833407A	NUP93	NM_014669.5(NUP93):c.1537+1G>A	coding	Pathogenic
16	56834745	T	G	T56834745G	NUP93	NM_014669.5(NUP93):c.1749T>G:p.Ile583Met	coding	Benign
16	56834768	G	T	G56834768T	NUP93	NM_014669.5(NUP93):c.1772G>T:p.Gly591Val	coding	Pathogenic
16	56836704	A	G	A56836704G	NUP93	NM_014669.5(NUP93):c.1886A>G:p.Tyr629Cys	coding	Pathogenic
16	56836715	A	C	A56836715C	NUP93	NM_014669.5(NUP93):c.1897A>C:p.Lys633Gln	coding	Benign
16	56839503	G	A	G56839503A	NUP93	NM_014669.5(NUP93):c.2137-18G>A	noncoding	Pathogenic
16	56841819	G	A	G56841819A	NUP93	NM_014669.5(NUP93):c.2335G>A:p.Glu779Lys	coding	Benign
16	56865328	C	T	C56865328T	SLC12A3	NM_001126108.2(SLC12A3):c.93C>T:p.Pro31=	coding	Benign
16	56865414	C	T	C56865414T	SLC12A3	NM_001126108.2(SLC12A3):c.179C>T:p.Thr60Met	coding	Pathogenic
16	56865482	C	T	C56865482T	SLC12A3	NM_001126108.2(SLC12A3):c.247C>T:p.Arg83Trp	coding	Pathogenic/Likely_pathogenic
16	56867094	C	T	C56867094T	SLC12A3	NM_001126108.2(SLC12A3):c.307C>T:p.Leu103=	coding	Benign
16	56867153	A	G	A56867153G	SLC12A3	NM_001126108.2(SLC12A3):c.366A>G:p.Ala122=	coding	Benign
16	56867225	G	A	G56867225A	SLC12A3	NM_001126108.2(SLC12A3):c.429+9G>A	noncoding	Benign
16	56868305	C	A	C56868305A	SLC12A3	NM_001126108.2(SLC12A3):c.438C>A:p.Cys146Ter	coding	Pathogenic
16	56868340	G	A	G56868340A	SLC12A3	NM_001126108.2(SLC12A3):c.473G>A:p.Arg158Gln	coding	Pathogenic
16	56868349	G	A	G56868349A	SLC12A3	NM_001126108.2(SLC12A3):c.482G>A:p.Trp161Ter	coding	Pathogenic
16	56868355	C	T	C56868355T	SLC12A3	NM_001126108.2(SLC12A3):c.488C>T:p.Thr163Met	coding	Pathogenic
16	56869728	G	A	G56869728A	SLC12A3	NM_001126108.2(SLC12A3):c.506-1G>A	noncoding	Pathogenic
16	56870119	C	T	C56870119T	SLC12A3	NM_001126108.2(SLC12A3):c.625C>T:p.Arg209Trp	coding	Pathogenic
16	56870120	G	A	G56870120A	SLC12A3	NM_001126108.2(SLC12A3):c.626G>A:p.Arg209Gln	coding	Pathogenic
16	56870138	T	C	T56870138C	SLC12A3	NM_001126108.2(SLC12A3):c.644T>C:p.Leu215Pro	coding	Pathogenic
16	56870217	C	T	C56870217T	SLC12A3	NM_001126108.2(SLC12A3):c.723C>T:p.Thr241=	coding	Benign
16	56870236	G	A	G56870236A	SLC12A3	NM_001126108.2(SLC12A3):c.741+1G>A	coding	Pathogenic
16	56870658	C	T	C56870658T	SLC12A3	NM_001126108.2(SLC12A3):c.774C>T:p.Asn258=	coding	Benign/Likely_benign
16	56870675	C	G	C56870675G	SLC12A3	NM_001126108.2(SLC12A3):c.791C>G:p.Ala264Gly	coding	Benign
16	56870737	G	A	G56870737A	SLC12A3	NM_001126108.2(SLC12A3):c.852+1G>A	coding	Pathogenic
16	56872463	G	T	G56872463T	SLC12A3	NM_001126108.2(SLC12A3):c.964+1G>T	coding	Pathogenic
16	56872657	G	A	G56872657A	SLC12A3	NM_001126108.2(SLC12A3):c.966G>A:p.Ala322=	coding	Benign
16	56872693	G	A	G56872693A	SLC12A3	NM_001126108.2(SLC12A3):c.1002G>A:p.Arg334=	coding	Benign
16	56872714	C	T	C56872714T	SLC12A3	NM_001126108.2(SLC12A3):c.1023C>T:p.Phe341=	coding	Benign
16	56872768	C	G	C56872768G	SLC12A3	NM_001126108.2(SLC12A3):c.1077C>G:p.Asn359Lys	coding	Pathogenic
16	56878157	C	T	C56878157T	SLC12A3	NM_001126108.2(SLC12A3):c.1176C>T:p.Thr392=	coding	Benign
16	56878162	G	T	G56878162T	SLC12A3	NM_001126108.2(SLC12A3):c.1180+1G>T	coding	Pathogenic
16	56878163	T	C	T56878163C	SLC12A3	NM_001126108.2(SLC12A3):c.1180+2T>C	noncoding	Pathogenic
16	56879080	C	A	C56879080A	SLC12A3	NM_001126108.2(SLC12A3):c.1188C>A:p.Cys396Ter	coding	Pathogenic
16	56879087	C	T	C56879087T	SLC12A3	NM_001126108.2(SLC12A3):c.1195C>T:p.Arg399Cys	coding	Pathogenic
16	56879102	G	A	G56879102A	SLC12A3	NM_001126108.2(SLC12A3):c.1210G>A:p.Val404Ile	coding	Benign/Likely_benign
16	56879153	T	C	T56879153C	SLC12A3	NM_001126108.2(SLC12A3):c.1261T>C:p.Cys421Arg	coding	Pathogenic
16	56879168	A	T	A56879168T	SLC12A3	NM_001126108.2(SLC12A3):c.1276A>T:p.Asn426Tyr	coding	Pathogenic
16	56879206	C	G	C56879206G	SLC12A3	NM_001126108.2(SLC12A3):c.1314C>G:p.Tyr438Ter	coding	Pathogenic
16	56879207	G	A	G56879207A	SLC12A3	NM_001126108.2(SLC12A3):c.1315G>A:p.Gly439Ser	coding	Pathogenic
16	56879593	G	A	G56879593A	SLC12A3	NM_001126108.2(SLC12A3):c.1387G>A:p.Gly463Arg	coding	Pathogenic/Likely_pathogenic
16	56879598	C	A	C56879598A	SLC12A3	NM_001126108.2(SLC12A3):c.1392C>A:p.Ala464=	coding	Benign/Likely_benign
16	56879601	C	T	C56879601T	SLC12A3	NM_001126108.2(SLC12A3):c.1395C>T:p.Thr465=	coding	Benign
16	56880142	G	A	G56880142A	SLC12A3	NM_001126108.2(SLC12A3):c.1456G>A:p.Asp486Asn	coding	Pathogenic
16	56880175	A	T	A56880175T	SLC12A3	NM_001126108.2(SLC12A3):c.1489A>T:p.Lys497Ter	coding	Pathogenic
16	56880225	C	T	C56880225T	SLC12A3	NM_001126108.2(SLC12A3):c.1539C>T:p.Tyr513=	coding	Benign/Likely_benign
16	56880229	A	G	A56880229G	SLC12A3	NM_001126108.2(SLC12A3):c.1543A>G:p.Ile515Val	coding	Benign/Likely_benign
16	56882492	C	T	C56882492T	SLC12A3	NM_001126108.2(SLC12A3):c.1664C>T:p.Ser555Leu	coding	Pathogenic
16	56883858	C	T	C56883858T	SLC12A3	NM_001126108.2(SLC12A3):c.1670-191C>T	noncoding	Pathogenic
16	56884041	T	C	T56884041C	SLC12A3	NM_001126108.2(SLC12A3):c.1670-8T>C	noncoding	Benign
16	56884077	C	A	C56884077A	SLC12A3	NM_001126108.2(SLC12A3):c.1698C>A:p.Asn566Lys	coding	Benign
16	56884213	C	A	C56884213A	SLC12A3	NM_001126108.2(SLC12A3):c.1825+9C>A	noncoding	Benign
16	56885283	C	T	C56885283T	SLC12A3	NM_001126108.2(SLC12A3):c.1844C>T:p.Ser615Leu	coding	Pathogenic
16	56885304	A	G	A56885304G	SLC12A3	NM_001126108.2(SLC12A3):c.1865A>G:p.Asn622Ser	coding	Benign
16	56885307	T	C	T56885307C	SLC12A3	NM_001126108.2(SLC12A3):c.1868T>C:p.Leu623Pro	coding	Pathogenic
16	56885323	G	A	G56885323A	SLC12A3	NM_001126108.2(SLC12A3):c.1884G>A:p.Ser628=	coding	Benign
16	56885328	G	T	G56885328T	SLC12A3	NM_001126108.2(SLC12A3):c.1889G>T:p.Gly630Val	coding	Pathogenic
16	56885363	C	G	C56885363G	SLC12A3	NM_001126108.2(SLC12A3):c.1924C>G:p.Arg642Gly	coding	Pathogenic
16	56885363	C	T	C56885363T	SLC12A3	NM_001126108.2(SLC12A3):c.1924C>T:p.Arg642Cys	coding	Pathogenic
16	56885364	G	A	G56885364A	SLC12A3	NM_001126108.2(SLC12A3):c.1925G>A:p.Arg642His	coding	Pathogenic
16	56886363	G	T	G56886363T	SLC12A3	NM_001126108.2(SLC12A3):c.1926-1G>T	noncoding	Pathogenic
16	56886384	C	T	C56886384T	SLC12A3	NM_001126108.2(SLC12A3):c.1946C>T:p.Thr649Met	coding	Pathogenic/Likely_pathogenic
16	56886401	C	T	C56886401T	SLC12A3	NM_001126108.2(SLC12A3):c.1963C>T:p.Arg655Cys	coding	Pathogenic
16	56886402	G	T	G56886402T	SLC12A3	NM_001126108.2(SLC12A3):c.1964G>T:p.Arg655Leu	coding	Pathogenic
16	56886467	G	A	G56886467A	SLC12A3	NM_001126108.2(SLC12A3):c.2029G>A:p.Val677Met	coding	Pathogenic
16	56886476	G	A	G56886476A	SLC12A3	NM_001126108.2(SLC12A3):c.2037+1G>A	coding	Pathogenic
16	56886998	G	A	G56886998A	SLC12A3	NM_001126108.2(SLC12A3):c.2083G>A:p.Gly695Arg	coding	Benign/Likely_benign
16	56887057	C	T	C56887057T	SLC12A3	NM_001126108.2(SLC12A3):c.2142C>T:p.Ala714=	coding	Benign
16	56887917	C	T	C56887917T	SLC12A3	NM_001126108.2(SLC12A3):c.2179-8C>T	noncoding	Benign
16	56887928	G	A	G56887928A	SLC12A3	NM_001126108.2(SLC12A3):c.2182G>A:p.Ala728Thr	coding	Benign/Likely_benign
16	56887936	C	T	C56887936T	SLC12A3	NM_001126108.2(SLC12A3):c.2190C>T:p.Leu730=	coding	Benign
16	56887937	G	A	G56887937A	SLC12A3	NM_001126108.2(SLC12A3):c.2191G>A:p.Gly731Arg	coding	Pathogenic
16	56888039	G	A	G56888039A	SLC12A3	NM_001126108.2(SLC12A3):c.2285+8G>A	noncoding	Benign
16	56890364	C	A	C56890364A	SLC12A3	NM_001126108.2(SLC12A3):c.2368+8C>A	noncoding	Benign
16	56893038	G	A	G56893038A	SLC12A3	NM_000339.3(SLC12A3):c.2532G>A:p.Trp844Ter	coding	Pathogenic
16	56894558	T	C	T56894558C	SLC12A3	NM_001126108.2(SLC12A3):c.2549T>C:p.Leu850Pro	coding	Pathogenic/Likely_pathogenic
16	56894563	C	T	C56894563T	SLC12A3	NM_001126108.2(SLC12A3):c.2554C>T:p.Arg852Cys	coding	Pathogenic
16	56894607	C	T	C56894607T	SLC12A3	NM_001126108.2(SLC12A3):c.2598C>T:p.Gly866=	coding	Benign
16	56894643	G	A	G56894643A	SLC12A3	NM_001126108.2(SLC12A3):c.2633+1G>A	coding	Pathogenic
16	56899607	G	A	G56899607A	SLC12A3	NM_001126108.2(SLC12A3):c.2711G>A:p.Arg904Gln	coding	Benign
16	56899617	G	T	G56899617T	SLC12A3	NM_001126108.2(SLC12A3):c.2720+1G>T	coding	Pathogenic
16	56902360	T	C	T56902360C	SLC12A3	NM_001126108.2(SLC12A3):c.2721-13T>C	noncoding	Benign
16	56902407	C	T	C56902407T	SLC12A3	NM_001126108.2(SLC12A3):c.2755C>T:p.Arg919Cys	coding	Benign
16	56902494	A	T	A56902494T	SLC12A3	NM_001126108.2(SLC12A3):c.2842A>T:p.Lys948Ter	coding	Pathogenic
16	56902509	G	T	G56902509T	SLC12A3	NM_001126108.2(SLC12A3):c.2856+1G>T	coding	Pathogenic
16	56904378	G	A	G56904378A	SLC12A3	NM_001126108.2(SLC12A3):c.2857-17G>A	noncoding	Benign
16	56904389	G	A	G56904389A	SLC12A3	NM_001126108.2(SLC12A3):c.2857-6G>A	noncoding	Benign/Likely_benign
16	56904402	G	A	G56904402A	SLC12A3	NM_001126108.2(SLC12A3):c.2864G>A:p.Arg955Gln	coding	Pathogenic/Likely_pathogenic
16	56904475	C	T	C56904475T	SLC12A3	NM_001126108.2(SLC12A3):c.2924+13C>T	noncoding	Benign
16	56913277	G	A	G56913277A	SLC12A3	NM_001126108.2(SLC12A3):c.2938G>A:p.Gly980Arg	coding	Pathogenic/Likely_pathogenic
16	56913293	G	A	G56913293A	SLC12A3	NM_001126108.2(SLC12A3):c.2954G>A:p.Cys985Tyr	coding	Pathogenic
16	56913303	G	A	G56913303A	SLC12A3	NM_001126108.2(SLC12A3):c.2964G>A:p.Ser988=	coding	Benign
16	56913363	C	T	C56913363T	SLC12A3	NM_001126108.2(SLC12A3):c.3024C>T:p.Ile1008=	coding	Benign
16	56913364	C	T	C56913364T	SLC12A3	NM_001126108.2(SLC12A3):c.3025C>T:p.Arg1009Ter	coding	Pathogenic
16	56913365	G	A	G56913365A	SLC12A3	NM_001126108.2(SLC12A3):c.3026G>A:p.Arg1009Gln	coding	Pathogenic
16	56913610	A	G	A56913610G	SLC12A3	NM_001126108.2(SLC12A3):c.*205A>G	noncoding	Benign
16	56913809	C	T	C56913809T	SLC12A3	NM_001126108.2(SLC12A3):c.*404C>T	noncoding	Benign
16	56914336	C	T	C56914336T	SLC12A3	NM_001126108.2(SLC12A3):c.*931C>T	noncoding	Benign
16	56914380	A	G	A56914380G	SLC12A3	NM_001126108.2(SLC12A3):c.*975A>G	noncoding	Benign
16	56914609	T	C	T56914609C	SLC12A3	NM_001126108.2(SLC12A3):c.*1204T>C	noncoding	Benign
16	56914706	A	C	A56914706C	SLC12A3	NM_001126108.2(SLC12A3):c.*1301A>C	noncoding	Benign
16	56914929	C	T	C56914929T	SLC12A3	NM_001126108.2(SLC12A3):c.*1524C>T	noncoding	Benign
16	56915079	C	T	C56915079T	SLC12A3	NM_001126108.2(SLC12A3):c.*1674C>T	noncoding	Benign
16	56915256	A	G	A56915256G	SLC12A3	NM_001126108.2(SLC12A3):c.*1851A>G	noncoding	Benign
16	56915473	C	G	C56915473G	SLC12A3	NM_001126108.2(SLC12A3):c.*2068C>G	noncoding	Benign
16	56915837	T	C	T56915837C	SLC12A3	NM_001126108.2(SLC12A3):c.*2432T>C	noncoding	Benign
16	56961915	G	A	G56961915A	CETP	NM_000078.2(CETP):c.-65G>A	noncoding	Benign
16	56962023	C	G	C56962023G	CETP	NM_000078.3(CETP):c.44C>G:p.Ala15Gly	coding	Benign
16	56962045	C	A	C56962045A	CETP	NM_000078.3(CETP):c.66C>A:p.Thr22=	coding	Benign
16	56962063	C	T	C56962063T	CETP	NM_000078.3(CETP):c.84C>T:p.Ile28=	coding	Benign
16	56969468	G	A	G56969468A	CETP	NM_000078.3(CETP):c.316G>A:p.Val106Met	coding	Benign
16	56969692	A	C	A56969692C	CETP	NM_000078.3(CETP):c.439+11A>C	noncoding	Benign
16	56969917	G	A	G56969917A	CETP	NM_000078.3(CETP):c.443G>A:p.Cys148Tyr	coding	Benign
16	56969934	C	T	C56969934T	CETP	NM_000078.3(CETP):c.460C>T:p.Arg154Trp	coding	Benign
16	56971039	G	A	G56971039A	CETP	NM_000078.3(CETP):c.534G>A:p.Gly178=	coding	Benign
16	56971308	C	G	C56971308G	CETP	NM_000078.3(CETP):c.598-13C>G	noncoding	Benign
16	56971389	C	T	C56971389T	CETP	NM_000078.3(CETP):c.658+8C>T	noncoding	Benign
16	56971996	C	A	C56971996A	CETP	NM_000078.3(CETP):c.663C>A:p.Ser221Arg	coding	Benign/Likely_benign
16	56973332	G	T	G56973332T	CETP	NM_000078.3(CETP):c.752G>T:p.Gly251Val	coding	Benign
16	56973336	T	C	T56973336C	CETP	NM_000078.3(CETP):c.756T>C:p.His252=	coding	Benign
16	56973384	G	A	G56973384A	CETP	NM_000078.3(CETP):c.804G>A:p.Ser268=	coding	Benign
16	56973384	G	T	G56973384T	CETP	NM_000078.3(CETP):c.804G>T:p.Ser268=	coding	Benign/Likely_benign
16	56973441	C	T	C56973441T	CETP	NM_000078.3(CETP):c.861C>T:p.Phe287=	coding	Benign
16	56973501	C	T	C56973501T	CETP	NM_000078.3(CETP):c.921C>T:p.Asp307=	coding	Benign/Likely_benign
16	56978126	C	T	C56978126T	CETP	NM_000078.3(CETP):c.1017C>T:p.Thr339=	coding	Benign
16	56978155	C	A	C56978155A	CETP	NM_000078.3(CETP):c.1046C>A:p.Ser349Tyr	coding	Benign
16	56978262	C	T	C56978262T	CETP	NM_000078.3(CETP):c.1146+7C>T	noncoding	Benign/Likely_benign
16	56981164	G	A	G56981164A	CETP	NM_000078.3(CETP):c.1153G>A:p.Val385Met	coding	Benign
16	56981172	C	G	C56981172G	CETP	NM_000078.3(CETP):c.1161C>G:p.Thr387=	coding	Benign
16	56981172	C	T	C56981172T	CETP	NM_000078.3(CETP):c.1161C>T:p.Thr387=	coding	Benign
16	56981179	G	C	G56981179C	CETP	NM_000078.3(CETP):c.1168G>C:p.Ala390Pro	coding	Benign
16	56981632	G	T	G56981632T	CETP	NM_000078.3(CETP):c.1215-15G>T	noncoding	Benign
16	56981633	C	T	C56981633T	CETP	NM_000078.3(CETP):c.1215-14C>T	noncoding	Benign
16	56982180	G	A	G56982180A	CETP	NM_000078.3(CETP):c.1264G>A:p.Val422Ile	coding	Benign
16	56982215	G	A	G56982215A	CETP	NM_000078.3(CETP):c.1299G>A:p.Val433=	coding	Benign
16	56982238	G	A	G56982238A	CETP	NM_000078.3(CETP):c.1321+1G>A	coding	Pathogenic
16	56983380	A	G	A56983380G	CETP	NM_000078.3(CETP):c.1376A>G:p.Asp459Gly	coding	Benign
16	56983381	C	T	C56983381T	CETP	NM_000078.3(CETP):c.1377C>T:p.Asp459=	coding	Benign
16	56983407	G	A	G56983407A	CETP	NM_000078.3(CETP):c.1403G>A:p.Arg468Gln	coding	Benign
16	56983654	G	A	G56983654A	CETP	NM_000078.3(CETP):c.1470G>A:p.Gln490=	coding	Benign
16	56983750	G	A	G56983750A	CETP	NM_000078.3(CETP):c.*84G>A	noncoding	Benign
16	56983850	C	G	C56983850G	CETP	NM_000078.2(CETP):c.*184C>G	noncoding	Benign
16	57037255	G	A	G57037255A	NLRC5	NM_032206.4(NLRC5):c.2772G>A:p.Ala924=	coding	Benign
16	57046614	G	A	G57046614A	NLRC5	NM_032206.4(NLRC5):c.3311G>A:p.Arg1104His	coding	Benign
16	57047542	C	A	C57047542A	NLRC5	NM_032206.4(NLRC5):c.3339-3C>A	noncoding	Benign
16	57077356	G	A	G57077356A	NLRC5	NM_032206.4(NLRC5):c.4896G>A:p.Gly1632=	coding	Benign
16	57079298	T	C	T57079298C	NLRC5	NM_032206.4(NLRC5):c.5237+6T>C	noncoding	Benign
16	57204779	G	T	G57204779T	RSPRY1	NM_133368.3(RSPRY1):c.121G>T:p.Gly41Cys	coding	Pathogenic
16	57204847	C	T	C57204847T	RSPRY1	NM_133368.3(RSPRY1):c.189C>T:p.Ala63=	coding	Benign
16	57227371	C	T	C57227371T	RSPRY1	NM_133368.3(RSPRY1):c.1191C>T:p.Tyr397=	coding	Benign
16	57227432	A	G	A57227432G	RSPRY1	NM_133368.3(RSPRY1):c.1252A>G:p.Ile418Val	coding	Benign
16	57230772	C	T	C57230772T	RSPRY1	NM_133368.3(RSPRY1):c.1335C>T:p.Gly445=	coding	Benign
16	57235142	G	C	G57235142C	RSPRY1	NM_133368.3(RSPRY1):c.1548G>C:p.Leu516=	coding	Benign
16	57245407	T	G	T57245407G	ARL2BP	NM_012106.4(ARL2BP):c.38+2T>G	noncoding	Pathogenic
16	57248536	G	C	G57248536C	ARL2BP	NM_012106.4(ARL2BP):c.101-1G>C	noncoding	Pathogenic
16	57248644	G	T	G57248644T	ARL2BP	NM_012106.4(ARL2BP):c.207+1G>T	coding	Pathogenic
16	57252156	T	A	T57252156A	ARL2BP	NM_012106.4(ARL2BP):c.391-10T>A	noncoding	Benign
16	57252260	G	A	G57252260A	ARL2BP	NM_012106.4(ARL2BP):c.485G>A:p.Arg162Gln	coding	Benign
16	57379748	C	T	C57379748T	CX3CL1	NM_002996.6(CX3CL1):c.185C>T:p.Ala62Val	coding	Benign
16	57379763	T	C	T57379763C	CX3CL1	NM_002996.6(CX3CL1):c.191+9T>C	noncoding	Benign
16	57382093	G	A	G57382093A	CX3CL1	NM_002996.6(CX3CL1):c.255G>A:p.Ala85=	coding	Benign
16	57382192	C	T	C57382192T	CX3CL1	NM_002996.6(CX3CL1):c.354C>T:p.Ala118=	coding	Benign
16	57382414	C	T	C57382414T	CX3CL1	NM_002996.6(CX3CL1):c.576C>T:p.Ser192=	coding	Benign
16	57382618	G	A	G57382618A	CX3CL1	NM_002996.6(CX3CL1):c.780G>A:p.Leu260=	coding	Benign
16	57415094	T	C	T57415094C	CCL17	NM_002987.3(CCL17):c.84T>C:p.Asn28=	coding	Benign
16	57447758	T	C	T57447758C	COQ9	NM_020312.4(COQ9):c.73+180T>C	noncoding	Benign
16	57451045	C	G	C57451045G	COQ9	NM_020312.4(COQ9):c.79C>G:p.Arg27Gly	coding	Benign/Likely_benign
16	57451068	G	A	G57451068A	COQ9	NM_020312.4(COQ9):c.102G>A:p.Pro34=	coding	Benign
16	57451206	C	G	C57451206G	COQ9	NM_020312.4(COQ9):c.240C>G:p.Pro80=	coding	Benign/Likely_benign
16	57456488	G	C	G57456488C	COQ9	NM_020312.4(COQ9):c.379-16G>C	noncoding	Benign
16	57458264	C	G	C57458264G	COQ9	NM_020312.4(COQ9):c.625C>G:p.Leu209Val	coding	Benign/Likely_benign
16	57459583	C	T	C57459583T	COQ9	NM_020312.4(COQ9):c.730C>T:p.Arg244Ter	coding	Pathogenic
16	57459717	G	C	G57459717C	COQ9	NM_020312.4(COQ9):c.864G>C:p.Lys288Asn	coding	Benign
16	57460115	C	A	C57460115A	COQ9	NM_020312.4(COQ9):c.921+11C>A	noncoding	Benign/Likely_benign
16	57460117	C	T	C57460117T	COQ9	NM_020312.4(COQ9):c.921+13C>T	noncoding	Benign
16	57460266	T	C	T57460266C	COQ9	NM_020312.4(COQ9):c.921+162T>C	noncoding	Benign
16	57461035	C	T	C57461035T	COQ9	NM_020312.4(COQ9):c.*411C>T	noncoding	Benign
16	57461080	C	A	C57461080A	COQ9	NM_020312.4(COQ9):c.*456C>A	noncoding	Benign
16	57461114	T	C	T57461114C	COQ9	NM_020312.4(COQ9):c.*490T>C	noncoding	Benign
16	57475573	C	A	C57475573A	DOK4	NM_001330556.2(DOK4):c.222G>T:p.Glu74Asp	coding	Benign
16	57562151	A	G	A57562151G	ADGRG5	NM_001304376.3(ADGRG5):c.58A>G:p.Thr20Ala	coding	Benign
16	57567932	C	G	C57567932G	ADGRG5	NM_001304376.3(ADGRG5):c.898C>G:p.Leu300Val	coding	Benign
16	57639210	C	T	C57639210T	ADGRG1	NM_201525.4(ADGRG1):c.-36+10408C>T	noncoding	Benign
16	57650297	C	T	C57650297T	ADGRG1	NM_201525.4(ADGRG1):c.10C>T:p.Gln4Ter	coding	Pathogenic
16	57651201	T	G	T57651201G	ADGRG1	NM_201525.4(ADGRG1):c.66T>G:p.Gly22=	coding	Benign/Likely_benign
16	57651247	C	T	C57651247T	ADGRG1	NM_201525.4(ADGRG1):c.112C>T:p.Arg38Trp	coding	Pathogenic
16	57651267	C	T	C57651267T	ADGRG1	NM_201525.4(ADGRG1):c.132C>T:p.Ser44=	coding	Benign
16	57651309	C	T	C57651309T	ADGRG1	NM_201525.4(ADGRG1):c.174C>T:p.Ile58=	coding	Benign/Likely_benign
16	57651370	C	T	C57651370T	ADGRG1	NM_005682.7(ADGRG1):c.235C>T:p.Arg79Ter	coding	Pathogenic
16	57651371	G	A	G57651371A	ADGRG1	NM_201525.4(ADGRG1):c.236G>A:p.Arg79Gln	coding	Benign/Likely_benign
16	57651398	A	G	A57651398G	ADGRG1	NM_201525.4(ADGRG1):c.263A>G:p.Tyr88Cys	coding	Pathogenic
16	57651400	C	T	C57651400T	ADGRG1	NM_201525.4(ADGRG1):c.265C>T:p.His89Tyr	coding	Pathogenic
16	57651407	G	C	G57651407C	ADGRG1	NM_201525.4(ADGRG1):c.272G>C:p.Cys91Ser	coding	Pathogenic
16	57651421	C	T	C57651421T	ADGRG1	NM_201525.4(ADGRG1):c.286C>T:p.Arg96Ter	coding	Pathogenic/Likely_pathogenic
16	57651502	C	T	C57651502T	ADGRG1	NM_005682.7(ADGRG1):c.367C>T:p.Gln123Ter	coding	Pathogenic
16	57651542	T	A	T57651542A	ADGRG1	NM_201525.4(ADGRG1):c.407T>A:p.Leu136Ter	coding	Pathogenic
16	57653219	C	T	C57653219T	ADGRG1	NM_201525.4(ADGRG1):c.504C>T:p.Ala168=	coding	Benign
16	57653336	G	A	G57653336A	ADGRG1	NM_201525.4(ADGRG1):c.620+1G>A	coding	Pathogenic
16	57653486	A	G	A57653486G	ADGRG1	NM_201525.4(ADGRG1):c.620+151A>G	noncoding	Benign
16	57653981	G	A	G57653981A	ADGRG1	NM_201525.4(ADGRG1):c.621-5G>A	noncoding	Benign
16	57653985	G	C	G57653985C	ADGRG1	NM_201525.4(ADGRG1):c.621-1G>C	noncoding	Pathogenic
16	57655116	C	T	C57655116T	ADGRG1	NM_201525.4(ADGRG1):c.769-283C>T	noncoding	Benign
16	57655441	C	T	C57655441T	ADGRG1	NM_201525.4(ADGRG1):c.811C>T:p.Arg271Ter	coding	Pathogenic
16	57655473	C	G	C57655473G	ADGRG1	NM_201525.4(ADGRG1):c.843C>G:p.Ser281Arg	coding	Benign/Likely_benign
16	57655474	G	C	G57655474C	ADGRG1	NM_201525.4(ADGRG1):c.844G>C:p.Gly282Arg	coding	Benign/Likely_benign
16	57655528	C	T	C57655528T	ADGRG1	NM_201525.4(ADGRG1):c.898C>T:p.Gln300Ter	coding	Pathogenic
16	57655893	A	C	A57655893C	ADGRG1	NM_201525.4(ADGRG1):c.918A>C:p.Gln306His	coding	Benign
16	57655971	T	C	T57655971C	ADGRG1	NM_201525.4(ADGRG1):c.996T>C:p.Thr332=	coding	Benign
16	57656000	G	A	G57656000A	ADGRG1	NM_201525.4(ADGRG1):c.1017+8G>A	noncoding	Benign/Likely_benign
16	57656244	T	A	T57656244A	ADGRG1	NM_201525.4(ADGRG1):c.1036T>A:p.Cys346Ser	coding	Pathogenic
16	57656620	G	C	G57656620C	ADGRG1	NM_201525.4(ADGRG1):c.1167+3G>C	noncoding	Pathogenic
16	57657353	C	A	C57657353A	ADGRG1	NM_201525.4(ADGRG1):c.1168-20C>A	noncoding	Benign
16	57657441	C	T	C57657441T	ADGRG1	NM_201525.4(ADGRG1):c.1236C>T:p.Val412=	coding	Benign/Likely_benign
16	57657497	G	A	G57657497A	ADGRG1	NM_201525.4(ADGRG1):c.1286+6G>A	noncoding	Benign
16	57659143	C	T	C57659143T	ADGRG1	NM_201525.4(ADGRG1):c.1287-270C>T	noncoding	Benign
16	57659335	G	A	G57659335A	ADGRG1	NM_201525.4(ADGRG1):c.1287-78G>A	noncoding	Benign
16	57659385	G	C	G57659385C	ADGRG1	NM_201525.4(ADGRG1):c.1287-28G>C	noncoding	Benign/Likely_benign
16	57659464	C	T	C57659464T	ADGRG1	NM_201525.4(ADGRG1):c.1338C>T:p.Ala446=	coding	Benign
16	57659534	C	T	C57659534T	ADGRG1	NM_201525.4(ADGRG1):c.1408C>T:p.Arg470Ter	coding	Pathogenic
16	57659568	T	C	T57659568C	ADGRG1	NM_201525.4(ADGRG1):c.1442T>C:p.Leu481Pro	coding	Pathogenic
16	57659586	T	C	T57659586C	ADGRG1	NM_201525.4(ADGRG1):c.1460T>C:p.Met487Thr	coding	Benign/Likely_benign
16	57659641	T	G	T57659641G	ADGRG1	NM_201525.4(ADGRG1):c.1515T>G:p.Tyr505Ter	coding	Pathogenic
16	57659696	G	C	G57659696C	ADGRG1	NM_201525.4(ADGRG1):c.1555+15G>C	noncoding	Benign
16	57660859	C	T	C57660859T	ADGRG1	NM_201525.4(ADGRG1):c.1647C>T:p.Gly549=	coding	Benign/Likely_benign
16	57660868	C	A	C57660868A	ADGRG1	NM_201525.4(ADGRG1):c.1656C>A:p.Tyr552Ter	coding	Pathogenic
16	57660992	G	A	G57660992A	ADGRG1	NM_201525.4(ADGRG1):c.1664+116G>A	noncoding	Benign
16	57661656	C	T	C57661656T	ADGRG1	NM_201525.4(ADGRG1):c.1665-41C>T	noncoding	Benign
16	57661692	C	T	C57661692T	ADGRG1	NM_201525.4(ADGRG1):c.1665-5C>T	noncoding	Benign
16	57661707	C	T	C57661707T	ADGRG1	NM_201525.4(ADGRG1):c.1675C>T:p.Arg559Trp	coding	Pathogenic/Likely_pathogenic
16	57661874	C	T	C57661874T	ADGRG1	NM_201525.4(ADGRG1):c.1842C>T:p.Gly614=	coding	Benign/Likely_benign
16	57661975	A	G	A57661975G	ADGRG1	NM_201525.4(ADGRG1):c.1933+10A>G	noncoding	Benign
16	57663470	G	A	G57663470A	ADGRG1	NM_201525.4(ADGRG1):c.1952G>A:p.Trp651Ter	coding	Pathogenic/Likely_pathogenic
16	57663601	C	A	C57663601A	ADGRG1	NM_201525.4(ADGRG1):c.*19C>A	noncoding	Benign
16	57663620	T	G	T57663620G	ADGRG1	NM_201525.4(ADGRG1):c.*38T>G	noncoding	Benign
16	57663656	C	A	C57663656A	ADGRG1	NM_201525.4(ADGRG1):c.*74C>A	noncoding	Benign
16	57663680	C	T	C57663680T	ADGRG1	NM_201525.4(ADGRG1):c.*98C>T	noncoding	Benign
16	57663690	G	A	G57663690A	ADGRG1	NM_201525.4(ADGRG1):c.*108G>A	noncoding	Benign
16	57663736	G	A	G57663736A	ADGRG1	NM_201525.4(ADGRG1):c.*154G>A	noncoding	Benign
16	57663883	C	T	C57663883T	ADGRG1	NM_201525.4(ADGRG1):c.*301C>T	noncoding	Benign
16	57664373	C	T	C57664373T	ADGRG1	NM_201525.4(ADGRG1):c.*791C>T	noncoding	Benign
16	57664414	T	C	T57664414C	ADGRG1	NM_201525.4(ADGRG1):c.*832T>C	noncoding	Benign
16	57664422	A	T	A57664422T	ADGRG1	NM_201525.4(ADGRG1):c.*840A>T	noncoding	Benign
16	57664492	T	C	T57664492C	ADGRG1	NM_201525.4(ADGRG1):c.*910T>C	noncoding	Benign
16	57664500	C	T	C57664500T	ADGRG1	NM_201525.4(ADGRG1):c.*918C>T	noncoding	Benign
16	57664510	G	A	G57664510A	ADGRG1	NM_201525.4(ADGRG1):c.*928G>A	noncoding	Benign
16	57664589	G	A	G57664589A	ADGRG1	NM_201525.4(ADGRG1):c.*1007G>A	noncoding	Benign
16	57664651	G	A	G57664651A	ADGRG1	NM_201525.4(ADGRG1):c.*1069G>A	noncoding	Benign
16	57664802	C	A	C57664802A	ADGRG1	NM_201525.4(ADGRG1):c.*1220C>A	noncoding	Benign
16	57664947	A	G	A57664947G	ADGRG1	NM_201525.4(ADGRG1):c.*1365A>G	noncoding	Benign
16	57665019	A	G	A57665019G	ADGRG1	NM_201525.4(ADGRG1):c.*1437A>G	noncoding	Benign
16	57737244	A	G	A57737244G	KATNB1	NM_005886.3(KATNB1):c.1A>G:p.Met1Val	coding	Pathogenic
16	57741712	C	T	C57741712T	KATNB1	NM_005886.3(KATNB1):c.66C>T:p.Asn22=	coding	Benign
16	57741739	C	T	C57741739T	KATNB1	NM_005886.3(KATNB1):c.93C>T:p.Ala31=	coding	Benign
16	57741743	G	T	G57741743T	KATNB1	NM_005886.3(KATNB1):c.97G>T:p.Gly33Trp	coding	Pathogenic
16	57744405	C	T	C57744405T	KATNB1	NM_005886.3(KATNB1):c.183C>T:p.Gly61=	coding	Benign
16	57751303	G	A	G57751303A	KATNB1	NM_005886.3(KATNB1):c.432+1G>A	coding	Pathogenic
16	57751308	G	A	G57751308A	KATNB1	NM_005886.3(KATNB1):c.432+6G>A	noncoding	Benign
16	57751697	G	A	G57751697A	KATNB1	NM_005886.3(KATNB1):c.489G>A:p.Ala163=	coding	Benign
16	57751935	T	C	T57751935C	KATNB1	NM_005886.3(KATNB1):c.517-5T>C	noncoding	Benign
16	57752526	G	A	G57752526A	KATNB1	NM_005886.3(KATNB1):c.633-4G>A	noncoding	Benign
16	57752596	C	A	C57752596A	KATNB1	NM_005886.3(KATNB1):c.699C>A:p.Pro233=	coding	Benign
16	57753072	T	G	T57753072G	KATNB1	NM_005886.3(KATNB1):c.856-5T>G	noncoding	Benign/Likely_benign
16	57753151	G	C	G57753151C	KATNB1	NM_005886.3(KATNB1):c.930G>C:p.Thr310=	coding	Benign
16	57753167	G	A	G57753167A	KATNB1	NM_005886.3(KATNB1):c.946G>A:p.Val316Met	coding	Benign
16	57753461	C	T	C57753461T	KATNB1	NM_005886.3(KATNB1):c.1119C>T:p.Arg373=	coding	Benign
16	57755238	C	T	C57755238T	KATNB1	NM_005886.3(KATNB1):c.1416C>T:p.Pro472=	coding	Benign
16	57755336	C	G	C57755336G	KATNB1	NM_005886.3(KATNB1):c.1417-9C>G	noncoding	Benign
16	57755843	G	A	G57755843A	KATNB1	NM_005886.3(KATNB1):c.1569G>A:p.Thr523=	coding	Benign
16	57755878	C	T	C57755878T	KATNB1	NM_005886.3(KATNB1):c.1604C>T:p.Ser535Leu	coding	Pathogenic
16	57755893	T	G	T57755893G	KATNB1	NM_005886.3(KATNB1):c.1619T>G:p.Leu540Arg	coding	Pathogenic
16	57756026	C	T	C57756026T	KATNB1	NM_005886.3(KATNB1):c.1678C>T:p.Leu560=	coding	Benign
16	57764182	C	T	C57764182T	KIFC3	NM_001130100.2(KIFC3):c.1578G>A:p.Ala526=	coding	Benign
16	57882872	T	G	T57882872G	CNGB1	NM_001297.5(CNGB1):c.*1292A>C	noncoding	Benign
16	57882931	A	G	A57882931G	CNGB1	NM_001297.5(CNGB1):c.*1233T>C	noncoding	Benign
16	57883245	C	T	C57883245T	CNGB1	NM_001297.5(CNGB1):c.*919G>A	noncoding	Benign
16	57883854	A	G	A57883854G	CNGB1	NM_001297.5(CNGB1):c.*310T>C	noncoding	Benign
16	57884131	T	C	T57884131C	CNGB1	NM_001297.5(CNGB1):c.*33A>G	noncoding	Benign
16	57884364	G	A	G57884364A	CNGB1	NM_001297.5(CNGB1):c.3556C>T:p.Pro1186Ser	coding	Benign/Likely_benign
16	57887848	A	G	A57887848G	CNGB1	NM_001297.5(CNGB1):c.3462+7T>C	noncoding	Benign
16	57887854	C	T	C57887854T	CNGB1	NM_001297.5(CNGB1):c.3462+1G>A	noncoding	Pathogenic
16	57897913	C	A	C57897913A	CNGB1	NM_001297.5(CNGB1):c.2978G>T:p.Gly993Val	coding	Pathogenic
16	57901522	G	A	G57901522A	CNGB1	NM_001297.5(CNGB1):c.2892+6C>T	noncoding	Benign
16	57901539	C	A	C57901539A	CNGB1	NM_001297.5(CNGB1):c.2881G>T:p.Ala961Ser	coding	Benign
16	57901566	C	T	C57901566T	CNGB1	NM_001297.5(CNGB1):c.2854G>A:p.Val952Met	coding	Benign/Likely_benign
16	57903821	C	T	C57903821T	CNGB1	NM_001297.5(CNGB1):c.2794+1G>A	noncoding	Pathogenic/Likely_pathogenic
16	57903856	C	T	C57903856T	CNGB1	NM_001297.5(CNGB1):c.2760G>A:p.Trp920Ter	coding	Pathogenic
16	57903857	C	T	C57903857T	CNGB1	NM_001297.5(CNGB1):c.2759G>A:p.Trp920Ter	coding	Pathogenic
16	57903884	T	C	T57903884C	CNGB1	NM_001297.5(CNGB1):c.2732A>G:p.Lys911Arg	coding	Benign
16	57903952	G	C	G57903952C	CNGB1	NM_001297.5(CNGB1):c.2664C>G:p.Ala888=	coding	Benign
16	57903952	G	T	G57903952T	CNGB1	NM_001297.5(CNGB1):c.2664C>A:p.Ala888=	coding	Benign
16	57903991	G	A	G57903991A	CNGB1	NM_001297.5(CNGB1):c.2635-10C>T	noncoding	Benign
16	57904860	G	T	G57904860T	CNGB1	NM_001297.5(CNGB1):c.2508C>A:p.Tyr836Ter	coding	Pathogenic
16	57904873	T	C	T57904873C	CNGB1	NM_001297.5(CNGB1):c.2495A>G:p.Tyr832Cys	coding	Pathogenic
16	57912938	G	T	G57912938T	CNGB1	NM_001297.5(CNGB1):c.2361C>A:p.Tyr787Ter	coding	Pathogenic
16	57912979	C	T	C57912979T	CNGB1	NM_001297.5(CNGB1):c.2320G>A:p.Glu774Lys	coding	Pathogenic
16	57915259	C	A	C57915259A	CNGB1	NM_001297.5(CNGB1):c.2294G>T:p.Arg765Leu	coding	Pathogenic
16	57915260	G	A	G57915260A	CNGB1	NM_001297.5(CNGB1):c.2293C>T:p.Arg765Cys	coding	Pathogenic
16	57915269	G	A	G57915269A	CNGB1	NM_001297.5(CNGB1):c.2284C>T:p.Arg762Cys	coding	Pathogenic
16	57915320	G	T	G57915320T	CNGB1	NM_001297.5(CNGB1):c.2233C>A:p.Leu745Ile	coding	Benign
16	57915347	G	A	G57915347A	CNGB1	NM_001297.5(CNGB1):c.2218-12C>T	noncoding	Benign
16	57916153	G	A	G57916153A	CNGB1	NM_001297.5(CNGB1):c.2193C>T:p.Asn731=	coding	Benign
16	57916161	G	A	G57916161A	CNGB1	NM_001297.5(CNGB1):c.2185C>T:p.Arg729Ter	coding	Pathogenic
16	57917267	C	T	C57917267T	CNGB1	NM_001297.5(CNGB1):c.2166+1G>A	noncoding	Pathogenic
16	57917306	G	A	G57917306A	CNGB1	NM_001297.5(CNGB1):c.2128C>T:p.Gln710Ter	coding	Pathogenic
16	57917477	C	T	C57917477T	CNGB1	NM_001297.5(CNGB1):c.1958-1G>A	coding	Pathogenic/Likely_pathogenic
16	57919097	A	C	A57919097C	CNGB1	NM_001297.5(CNGB1):c.1957+2T>G	noncoding	Pathogenic
16	57919106	C	G	C57919106G	CNGB1	NM_001297.5(CNGB1):c.1950G>C:p.Pro650=	coding	Benign
16	57919160	G	T	G57919160T	CNGB1	NM_001297.5(CNGB1):c.1896C>A:p.Cys632Ter	coding	Pathogenic
16	57920544	A	G	A57920544G	CNGB1	NM_001297.5(CNGB1):c.1644T>C:p.Asp548=	coding	Benign
16	57923312	A	G	A57923312G	CNGB1	NM_001297.5(CNGB1):c.1604T>C:p.Val535Ala	coding	Benign
16	57931734	G	C	G57931734C	CNGB1	NM_001297.5(CNGB1):c.1517C>G:p.Ser506Ter	coding	Pathogenic
16	57931778	C	T	C57931778T	CNGB1	NM_001297.5(CNGB1):c.1473G>A:p.Pro491=	coding	Benign
16	57931820	G	T	G57931820T	CNGB1	NM_001297.5(CNGB1):c.1431C>A:p.Cys477Ter	coding	Pathogenic/Likely_pathogenic
16	57931879	C	T	C57931879T	CNGB1	NM_001297.5(CNGB1):c.1373-1G>A	coding	Pathogenic
16	57931889	G	T	G57931889T	CNGB1	NM_001297.5(CNGB1):c.1373-11C>A	noncoding	Benign
16	57940239	C	T	C57940239T	CNGB1	NM_001297.5(CNGB1):c.1204G>A:p.Asp402Asn	coding	Benign/Likely_benign
16	57940323	T	A	T57940323A	CNGB1	NM_001297.5(CNGB1):c.1122-2A>T	noncoding	Pathogenic
16	57940336	G	A	G57940336A	CNGB1	NM_001297.5(CNGB1):c.1122-15C>T	noncoding	Benign/Likely_benign
16	57940339	G	A	G57940339A	CNGB1	NM_001297.5(CNGB1):c.1122-18C>T	noncoding	Benign
16	57950463	G	A	G57950463A	CNGB1	NM_001297.5(CNGB1):c.952C>T:p.Gln318Ter	coding	Pathogenic
16	57958442	G	A	G57958442A	CNGB1	NM_001297.5(CNGB1):c.805C>T:p.Gln269Ter	coding	Pathogenic
16	57959937	C	T	C57959937T	CNGB1	NM_001297.5(CNGB1):c.712G>A:p.Gly238Ser	coding	Benign/Likely_benign
16	57960043	T	C	T57960043C	CNGB1	NM_001297.5(CNGB1):c.606A>G:p.Glu202=	coding	Benign/Likely_benign
16	57960833	G	C	G57960833C	CNGB1	NM_001297.5(CNGB1):c.534+7C>G	noncoding	Benign
16	57962570	G	A	G57962570A	CNGB1	NM_001297.5(CNGB1):c.453C>T:p.Asp151=	coding	Benign
16	57962583	A	C	A57962583C	CNGB1	NM_001297.5(CNGB1):c.440T>G:p.Leu147Arg	coding	Benign
16	57962611	C	T	C57962611T	CNGB1	NM_001297.5(CNGB1):c.413-1G>A	coding	Pathogenic/Likely_pathogenic
16	57963028	G	A	G57963028A	CNGB1	NM_001297.5(CNGB1):c.327C>T:p.Gly109=	coding	Benign
16	57963040	C	T	C57963040T	CNGB1	NM_001297.5(CNGB1):c.315G>A:p.Trp105Ter	coding	Pathogenic
16	57963056	C	T	C57963056T	CNGB1	NM_001297.5(CNGB1):c.299G>A:p.Arg100His	coding	Benign
16	57964163	C	T	C57964163T	CNGB1	NM_001297.5(CNGB1):c.257G>A:p.Arg86Gln	coding	Benign
16	58001525	C	A	C58001525A	USB1	NM_024598.4(USB1):c.42C>A:p.Ser14=	coding	Benign
16	58002612	C	T	C58002612T	USB1	NM_024598.3(USB1):c.232C>T:p.Arg78Ter	coding	Pathogenic
16	58002623	G	A	G58002623A	USB1	NM_024598.3(USB1):c.243G>A:p.Trp81Ter	coding	Pathogenic
16	58002638	T	A	T58002638A	USB1	NM_024598.3(USB1):c.258T>A:p.Tyr86Ter	coding	Pathogenic
16	58002647	T	G	T58002647G	USB1	NM_024598.3(USB1):c.265+2T>G	noncoding	Pathogenic
16	58009928	G	A	G58009928A	USB1	NM_024598.3(USB1):c.266-1G>A	noncoding	Pathogenic
16	58009930	T	A	T58009930A	USB1	NM_024598.3(USB1):c.267T>A:p.Tyr89Ter	coding	Pathogenic
16	58009975	C	T	C58009975T	USB1	NM_024598.4(USB1):c.312C>T:p.Pro104=	coding	Benign
16	58010007	G	A	G58010007A	USB1	NM_024598.4(USB1):c.344G>A:p.Arg115Lys	coding	Benign
16	58010078	C	T	C58010078T	USB1	NM_024598.3(USB1):c.415C>T:p.Gln139Ter	coding	Pathogenic
16	58014271	A	G	A58014271G	USB1	NM_024598.3(USB1):c.450-2A>G	noncoding	Pathogenic
16	58014325	A	G	A58014325G	USB1	NM_024598.3(USB1):c.502A>G:p.Arg168Gly	coding	Pathogenic
16	58017332	A	C	A58017332C	USB1	NM_024598.3(USB1):c.504-2A>C	noncoding	Pathogenic
16	58017348	T	G	T58017348G	USB1	NM_024598.3(USB1):c.518T>G:p.Leu173Arg	coding	Pathogenic
16	58017371	C	T	C58017371T	USB1	NM_024598.3(USB1):c.541C>T:p.Gln181Ter	coding	Pathogenic
16	58017440	G	A	G58017440A	USB1	NM_024598.3(USB1):c.609+1G>A	coding	Pathogenic
16	58018985	A	G	A58018985G	USB1	NM_024598.3(USB1):c.623A>G:p.His208Arg	coding	Pathogenic
16	58019035	C	T	C58019035T	USB1	NM_024598.3(USB1):c.673C>T:p.Gln225Ter	coding	Pathogenic
16	58019056	G	T	G58019056T	USB1	NM_024598.3(USB1):c.693+1G>T	coding	Pathogenic
16	58020195	C	G	C58020195G	USB1	NM_024598.4(USB1):c.748C>G:p.Gln250Glu	coding	Benign
16	58041666	G	A	G58041666A	MMP15	NM_002428.4(MMP15):c.960G>A:p.Thr320=	coding	Benign
16	58042222	C	T	C58042222T	MMP15	NM_002428.4(MMP15):c.1165-9C>T	noncoding	Benign
16	58284658	G	C	G58284658C	PRSS54	NM_001305173.2(PRSS54):c.586C>G:p.Pro196Ala	coding	Benign
16	58506618	A	G	A58506618G	NDRG4	NM_001130487.1(NDRG4):c.672+4A>G	noncoding	Benign
16	58534213	A	G	A58534213G	CNOT1	NM_016284.5(CNOT1):c.5829T>C:p.Ile1943=	coding	Benign
16	58543609	G	A	G58543609A	CNOT1	NM_016284.5(CNOT1):c.4432C>T:p.Arg1478Cys	coding	Pathogenic
16	58551829	T	A	T58551829A	CNOT1	NM_016284.5(CNOT1):c.2971-10A>T	noncoding	Benign
16	58553868	C	A	C58553868A	CNOT1	NM_016284.5(CNOT1):c.2892-8G>T	noncoding	Benign
16	58555444	G	A	G58555444A	CNOT1	NM_016284.5(CNOT1):c.2698C>T:p.Arg900Cys	coding	Pathogenic
16	58582808	G	A	G58582808A	CNOT1	NM_016284.5(CNOT1):c.1029C>T:p.Asp343=	coding	Benign
16	58599241	G	A	G58599241A	CNOT1	NM_016284.5(CNOT1):c.97C>T:p.Gln33Ter	coding	Pathogenic
16	58599262	G	A	G58599262A	CNOT1	NM_016284.5(CNOT1):c.76C>T:p.Arg26Ter	coding	Pathogenic
16	58667412	G	A	G58667412A	SLC38A7	NM_018231.3(SLC38A7):c.1362C>T:p.Asn454=	coding	Benign
16	58675959	G	A	G58675959A	SLC38A7	NM_018231.3(SLC38A7):c.864C>T:p.Leu288=	coding	Benign
16	58680098	T	C	T58680098C	SLC38A7	NM_018231.3(SLC38A7):c.29A>G:p.Tyr10Cys	coding	Benign
16	58708216	G	A	G58708216A	GOT2	NM_002080.4(GOT2):c.1248C>T:p.Ser416=	coding	Benign
16	58708301	G	C	G58708301C	GOT2	NM_002080.4(GOT2):c.1171-8C>G	noncoding	Benign
16	58718664	C	T	C58718664T	GOT2	NM_002080.4(GOT2):c.460G>A:p.Asp154Asn	coding	Benign
16	58722171	G	A	G58722171A	GOT2	NM_002080.4(GOT2):c.354C>T:p.Ser118=	coding	Benign
16	61654007	G	A	G61654007A	CDH8	NM_001796.5(CDH8):c.2001C>T:p.Tyr667=	coding	Benign
16	61654097	G	A	G61654097A	CDH8	NM_001796.5(CDH8):c.1911C>T:p.Ile637=	coding	Benign
16	61789473	G	A	G61789473A	CDH8	NM_001796.5(CDH8):c.1287C>T:p.Ile429=	coding	Benign
16	64971658	C	T	C64971658T	CDH11	NM_001797.4(CDH11):c.1563G>A:p.Thr521=	coding	Benign
16	64972009	G	A	G64972009A	CDH11	NM_001797.4(CDH11):c.1446C>T:p.Asn482=	coding	Benign
16	64972031	G	A	G64972031A	CDH11	NM_001797.4(CDH11):c.1424C>T:p.Ala475Val	coding	Benign
16	64988156	C	A	C64988156A	CDH11	NM_001797.4(CDH11):c.999+1G>T	noncoding	Pathogenic
16	64991883	G	C	G64991883C	CDH11	NM_001797.4(CDH11):c.696C>G:p.Tyr232Ter	coding	Pathogenic
16	65004783	C	T	C65004783T	CDH11	NM_001797.4(CDH11):c.87G>A:p.Gly29=	coding	Benign
16	66390419	C	T	C66390419T	CDH5	NM_001795.5(CDH5):c.798C>T:p.Val266=	coding	Benign
16	66508182	G	A	G66508182A	TK2	NM_004614.5(TK2):c.*3786C>T	noncoding	Benign
16	66509054	G	A	G66509054A	TK2	NM_004614.5(TK2):c.*2914C>T	noncoding	Benign
16	66509518	T	C	T66509518C	TK2	NM_004614.5(TK2):c.*2450A>G	noncoding	Benign
16	66509549	G	A	G66509549A	TK2	NM_004614.5(TK2):c.*2419C>T	noncoding	Benign
16	66509747	A	G	A66509747G	TK2	NM_004614.5(TK2):c.*2221T>C	noncoding	Benign
16	66510009	C	T	C66510009T	TK2	NM_004614.5(TK2):c.*1959G>A	noncoding	Benign
16	66511203	A	G	A66511203G	TK2	NM_004614.5(TK2):c.*765T>C	noncoding	Benign
16	66512079	C	T	C66512079T	TK2	NM_004614.5(TK2):c.700-13G>A	noncoding	Benign
16	66513786	A	G	A66513786G	TK2	NM_004614.5(TK2):c.644T>C:p.Leu215Pro	coding	Pathogenic
16	66513795	A	T	A66513795T	TK2	NM_004614.5(TK2):c.635T>A:p.Ile212Asn	coding	Pathogenic
16	66513864	T	C	T66513864C	TK2	NM_004614.5(TK2):c.619-53A>G	noncoding	Benign
16	66513874	G	C	G66513874C	TK2	NM_004614.5(TK2):c.619-63C>G	noncoding	Benign
16	66517171	T	A	T66517171A	TK2	NM_004614.5(TK2):c.583A>T:p.Lys195Ter	coding	Pathogenic
16	66517178	C	T	C66517178T	TK2	NM_004614.5(TK2):c.576G>A:p.Arg192=	coding	Benign
16	66517179	C	T	C66517179T	TK2	NM_004614.5(TK2):c.575G>A:p.Arg192Lys	coding	Pathogenic
16	66517192	T	C	T66517192C	TK2	NM_004614.5(TK2):c.562A>G:p.Thr188Ala	coding	Pathogenic
16	66517207	G	A	G66517207A	TK2	NM_004614.5(TK2):c.547C>T:p.Arg183Trp	coding	Pathogenic
16	66517235	T	C	T66517235C	TK2	NM_004614.5(TK2):c.539-20A>G	noncoding	Benign
16	66517391	C	T	C66517391T	TK2	NM_004614.5(TK2):c.539-176G>A	noncoding	Benign
16	66528864	G	A	G66528864A	TK2	NM_004614.5(TK2):c.449+130C>T	noncoding	Benign
16	66528980	T	G	T66528980G	TK2	NM_004614.5(TK2):c.449+14A>C	noncoding	Benign
16	66529027	G	A	G66529027A	TK2	NM_004614.5(TK2):c.416C>T:p.Ala139Val	coding	Pathogenic/Likely_pathogenic
16	66529054	C	T	C66529054T	TK2	NM_004614.5(TK2):c.389G>A:p.Arg130Gln	coding	Pathogenic
16	66529055	G	A	G66529055A	TK2	NM_004614.5(TK2):c.388C>T:p.Arg130Trp	coding	Pathogenic
16	66531153	A	T	A66531153T	TK2	NM_004614.5(TK2):c.375+227T>A	noncoding	Benign
16	66531382	G	A	G66531382A	TK2	NM_004614.5(TK2):c.373C>T:p.Gln125Ter	coding	Pathogenic
16	66531394	G	T	G66531394T	TK2	NM_004614.5(TK2):c.361C>A:p.His121Asn	coding	Pathogenic
16	66531421	A	T	A66531421T	TK2	NM_004614.5(TK2):c.334T>A:p.Tyr112Asn	coding	Pathogenic
16	66531427	G	A	G66531427A	TK2	NM_004614.5(TK2):c.328C>T:p.Gln110Ter	coding	Pathogenic
16	66531432	G	A	G66531432A	TK2	NM_004614.5(TK2):c.323C>T:p.Thr108Met	coding	Pathogenic
16	66536971	T	C	T66536971C	TK2	NM_004614.5(TK2):c.278A>G:p.Asn93Ser	coding	Pathogenic
16	66541869	G	A	G66541869A	TK2	NM_004614.5(TK2):c.231+10C>T	noncoding	Benign/Likely_benign
16	66541912	G	C	G66541912C	TK2	NM_004614.5(TK2):c.198C>G:p.Cys66Trp	coding	Pathogenic
16	66541937	T	C	T66541937C	TK2	NM_004614.5(TK2):c.173A>G:p.Asn58Ser	coding	Pathogenic/Likely_pathogenic
16	66541951	G	C	G66541951C	TK2	NM_004614.5(TK2):c.159C>G:p.Ile53Met	coding	Pathogenic
16	66541965	C	T	C66541965T	TK2	NM_004614.5(TK2):c.157-12G>A	noncoding	Benign
16	66548963	A	G	A66548963G	TK2	NM_004614.5(TK2):c.156+15T>C	noncoding	Benign
16	66548976	A	G	A66548976G	TK2	NM_004614.5(TK2):c.156+2T>C	noncoding	Pathogenic
16	66549001	G	A	G66549001A	TK2	NM_004614.5(TK2):c.133C>T:p.Gln45Ter	coding	Pathogenic
16	66549125	C	T	C66549125T	TK2	NM_004614.5(TK2):c.125-116G>A	coding	Benign
16	66549715	G	C	G66549715C	TK2	NM_004614.5(TK2):c.124+223C>G	coding	Benign
16	66549744	A	G	A66549744G	TK2	NM_004614.5(TK2):c.124+194T>C	coding	Benign
16	66549802	T	C	T66549802C	TK2	NM_004614.5(TK2):c.124+136A>G	coding	Benign
16	66549959	G	A	G66549959A	TK2	NM_004614.5(TK2):c.103C>T:p.Gln35Ter	coding	Pathogenic
16	66549968	G	A	G66549968A	TK2	NM_004614.5(TK2):c.94C>T:p.Arg32Trp	coding	Benign/Likely_benign
16	66550091	G	C	G66550091C	TK2	NM_004614.5(TK2):c.-30C>G	coding	Benign
16	66550099	T	C	T66550099C	TK2	NM_004614.5(TK2):c.-38A>G	coding	Benign
16	66565987	G	A	G66565987A	CKLF	NM_016951.4(CKLF):c.435G>A:p.Val145=	coding	Benign
16	66847187	C	T	C66847187T	CA7	NM_005182.3(CA7):c.198C>T:p.His66=	coding	Benign
16	66910277	C	T	C66910277T	CDH16	NM_004062.4(CDH16):c.2150G>A:p.Arg717His	coding	Benign
16	66912815	G	A	G66912815A	CDH16	NM_004062.4(CDH16):c.1131C>T:p.Leu377=	coding	Benign
16	66917634	C	T	C66917634T	CDH16	NM_004062.4(CDH16):c.129+8G>A	noncoding	Benign
16	66941809	G	A	G66941809A	CES2	NM_001365405.1(CES2):c.1098G>A:p.Glu366=	coding	Benign
16	67163406	G	A	G67163406A	HSF4	NM_018378.3(FBXL8):c.711G>A:p.Leu237=	coding	Benign
16	67163470	G	C	G67163470C	HSF4	NM_018378.3(FBXL8):c.775G>C:p.Glu259Gln	coding	Benign
16	67163518	G	A	G67163518A	HSF4	NM_018378.3(FBXL8):c.823G>A:p.Val275Ile	coding	Benign
16	67163578	G	T	G67163578T	HSF4	NM_018378.3(FBXL8):c.883G>T:p.Ala295Ser	coding	Benign
16	67163728	G	C	G67163728C	HSF4	NM_018378.3(FBXL8):c.1033G>C:p.Asp345His	coding	Benign
16	67163785	G	A	G67163785A	HSF4	NM_018378.3(FBXL8):c.1090G>A:p.Glu364Lys	coding	Benign
16	67164589	C	T	C67164589T	HSF4	NM_001040667.3(HSF4):c.-223C>T	noncoding	Benign
16	67164687	C	T	C67164687T	HSF4	NM_001040667.3(HSF4):c.-125C>T	noncoding	Benign
16	67164789	C	T	C67164789T	HSF4	NM_001040667.3(HSF4):c.-23C>T	noncoding	Benign
16	67164867	C	A	C67164867A	HSF4	NM_001040667.3(HSF4):c.56C>A:p.Ala19Asp	coding	Pathogenic
16	67164874	C	A	C67164874A	HSF4	NM_001374675.1(HSF4):c.63C>A:p.Leu21=	coding	Benign
16	67164943	C	T	C67164943T	HSF4	NM_001040667.3(HSF4):c.123+9C>T	noncoding	Benign
16	67165742	A	G	A67165742G	HSF4	NM_001040667.3(HSF4):c.256A>G:p.Ile86Val	coding	Pathogenic
16	67165745	G	A	G67165745A	HSF4	NM_001040667.3(HSF4):c.259G>A:p.Glu87Lys	coding	Benign
16	67165827	T	C	T67165827C	HSF4	NM_001040667.3(HSF4):c.341T>C:p.Leu114Pro	coding	Pathogenic
16	67165833	G	A	G67165833A	HSF4	NM_001374675.1(HSF4):c.347G>A:p.Arg116His	coding	Benign
16	67165841	C	T	C67165841T	HSF4	NM_001040667.3(HSF4):c.355C>T:p.Arg119Cys	coding	Pathogenic
16	67166399	T	G	T67166399G	HSF4	NM_001040667.3(HSF4):c.561+4T>G	noncoding	Benign/Likely_benign
16	67167109	C	T	C67167109T	HSF4	NM_001040667.3(HSF4):c.627-11C>T	noncoding	Benign
16	67167129	G	T	G67167129T	HSF4	NM_001040667.3(HSF4):c.636G>T:p.Met212Ile	coding	Benign
16	67167173	C	A	C67167173A	HSF4	NM_001374675.1(HSF4):c.680C>A:p.Thr227Asn	coding	Benign
16	67167856	G	A	G67167856A	HSF4	NM_001374675.1(HSF4):c.991G>A:p.Ala331Thr	coding	Benign
16	67169339	C	T	C67169339T	HSF4	NM_001374675.1(HSF4):c.1315C>T:p.Pro439Ser	coding	Benign
16	67169701	C	A	C67169701A	HSF4	NM_001040667.3(HSF4):c.1395C>A:p.Gly465=	coding	Benign
16	67169720	A	G	A67169720G	HSF4	NM_001374675.1(HSF4):c.1414A>G:p.Ile472Val	coding	Benign
16	67169781	C	A	C67169781A	HSF4	NM_001374675.1(HSF4):c.1475C>A:p.Pro492His	coding	Benign
16	67169782	C	A	C67169782A	HSF4	NM_001040667.3(HSF4):c.1476C>A:p.Pro492=	coding	Benign/Likely_benign
16	67169793	C	T	C67169793T	HSF4	NM_001374675.1(HSF4):c.*8C>T	noncoding	Benign
16	67169874	G	T	G67169874T	HSF4	NM_001040667.3(HSF4):c.*89G>T	noncoding	Benign
16	67174230	G	C	G67174230C	NOL3	NM_003946.6(NOL3):c.61G>C:p.Glu21Gln	coding	Pathogenic
16	67228863	C	T	C67228863T	TMEM208	NM_014187.4(TMEM208):c.366C>T:p.Val122=	coding	Benign
16	67285354	A	G	A67285354G	PLEKHG4	NM_001129729.3(PLEKHG4):c.2260A>G:p.Thr754Ala	coding	Benign
16	67291776	G	A	G67291776A	KCTD19	NM_001100915.3(KCTD19):c.2280C>T:p.Ile760=	coding	Benign
16	67291785	T	C	T67291785C	KCTD19	NM_001100915.3(KCTD19):c.2271A>G:p.Leu757=	coding	Benign
16	67293567	C	T	C67293567T	KCTD19	NM_001100915.3(KCTD19):c.2195G>A:p.Ser732Asn	coding	Benign
16	67406302	C	T	C67406302T	ZDHHC1	NM_001323627.2(ZDHHC1):c.150G>A:p.Pro50=	coding	Benign
16	67435830	C	A	C67435830A	HSD11B2	NM_000196.4(HSD11B2):c.468C>A:p.Thr156=	coding	Benign
16	67436012	G	A	G67436012A	HSD11B2	NM_000196.4(HSD11B2):c.534G>A:p.Glu178=	coding	Benign
16	67436066	G	A	G67436066A	HSD11B2	NM_000196.4(HSD11B2):c.588G>A:p.Ala196=	coding	Benign
16	67436101	G	A	G67436101A	HSD11B2	NM_000196.4(HSD11B2):c.623G>A:p.Arg208His	coding	Pathogenic
16	67436115	C	T	C67436115T	HSD11B2	NM_000196.4(HSD11B2):c.637C>T:p.Arg213Cys	coding	Pathogenic
16	67436156	C	T	C67436156T	HSD11B2	NM_000196.4(HSD11B2):c.664+14C>T	noncoding	Pathogenic
16	67436251	G	A	G67436251A	HSD11B2	NM_000196.4(HSD11B2):c.667G>A:p.Asp223Asn	coding	Pathogenic
16	67436264	C	T	C67436264T	HSD11B2	NM_000196.4(HSD11B2):c.680C>T:p.Pro227Leu	coding	Pathogenic
16	67436265	G	A	G67436265A	HSD11B2	NM_000196.4(HSD11B2):c.681G>A:p.Pro227=	coding	Benign
16	67436620	C	T	C67436620T	HSD11B2	NM_000196.4(HSD11B2):c.835C>T:p.Arg279Cys	coding	Pathogenic
16	67436794	C	T	C67436794T	HSD11B2	NM_000196.4(HSD11B2):c.1009C>T:p.Arg337Cys	coding	Pathogenic
16	67436797	T	C	T67436797C	HSD11B2	NM_000196.4(HSD11B2):c.1012T>C:p.Tyr338His	coding	Pathogenic
16	67436906	G	A	G67436906A	HSD11B2	NM_000196.4(HSD11B2):c.1121G>A:p.Arg374Gln	coding	Benign
16	67482702	G	C	G67482702C	AGRP	NM_001138.2(AGRP):c.333C>G:p.Arg111=	coding	Benign
16	67610850	C	T	C67610850T	CTCF	NM_006565.4(CTCF):c.18C>T:p.Val6=	coding	Benign
16	67610907	C	A	C67610907A	CTCF	NM_006565.4(CTCF):c.75C>A:p.Tyr25Ter	coding	Pathogenic
16	67620774	C	T	C67620774T	CTCF	NM_006565.4(CTCF):c.1164C>T:p.Ser388=	coding	Benign
16	67626653	C	T	C67626653T	CTCF	NM_006565.4(CTCF):c.1456C>T:p.Gln486Ter	coding	Pathogenic
16	67628550	C	T	C67628550T	CTCF	NM_006565.4(CTCF):c.1699C>T:p.Arg567Trp	coding	Pathogenic
16	67629388	T	C	T67629388C	CTCF	NM_006565.4(CTCF):c.1702-10T>C	noncoding	Benign
16	67636739	C	T	C67636739T	CTCF	NM_006565.4(CTCF):c.1887C>T:p.Ala629=	coding	Benign/Likely_benign
16	67636779	C	T	C67636779T	CTCF	NM_006565.4(CTCF):c.1927C>T:p.Pro643Ser	coding	Benign/Likely_benign
16	67636842	C	T	C67636842T	CTCF	NM_006565.4(CTCF):c.1990C>T:p.Gln664Ter	coding	Pathogenic
16	67637827	C	T	C67637827T	CTCF	NM_006565.4(CTCF):c.2139C>T:p.Asn713=	coding	Benign/Likely_benign
16	67637845	G	A	G67637845A	CTCF	NM_006565.4(CTCF):c.2157G>A:p.Glu719=	coding	Benign
16	67647603	G	T	G67647603T	CARMIL2	NM_001013838.3(CARMIL2):c.871+1G>T	coding	Pathogenic
16	67648254	C	T	C67648254T	CARMIL2	NM_001013838.3(CARMIL2):c.1274C>T:p.Ser425Phe	coding	Benign
16	67648957	T	A	T67648957A	CARMIL2	NM_001013838.3(CARMIL2):c.1574T>A:p.Leu525Gln	coding	Pathogenic
16	67648973	C	A	C67648973A	CARMIL2	NM_001013838.3(CARMIL2):c.1590C>A:p.Asn530Lys	coding	Pathogenic
16	67651814	C	T	C67651814T	CARMIL2	NM_001013838.3(CARMIL2):c.2557C>T:p.Gln853Ter	coding	Pathogenic
16	67656548	T	C	T67656548C	CARMIL2	NM_001013838.3(CARMIL2):c.3939T>C:p.Pro1313=	coding	Benign
16	67657291	C	T	C67657291T	CARMIL2	NM_001013838.3(CARMIL2):c.4170C>T:p.Leu1390=	coding	Benign
16	67657612	C	A	C67657612A	ACD	NM_001082486.2(ACD):c.1371G>T:p.Pro457=	coding	Benign
16	67657647	G	A	G67657647A	ACD	NM_001082486.2(ACD):c.1336C>T:p.Leu446=	coding	Benign/Likely_benign
16	67657863	G	A	G67657863A	ACD	NM_001082486.2(ACD):c.1207-10C>T	noncoding	Benign
16	67658269	C	T	C67658269T	ACD	NM_001082486.2(ACD):c.923G>A:p.Gly308Glu	coding	Benign
16	67658565	G	A	G67658565A	ACD	NM_001082486.2(ACD):c.819C>T:p.Pro273=	coding	Benign
16	67658583	G	A	G67658583A	ACD	NM_001082486.2(ACD):c.801C>T:p.Ala267=	coding	Benign
16	67659389	G	A	G67659389A	ACD	NM_001082486.2(ACD):c.444C>T:p.Leu148=	coding	Benign
16	67660013	G	A	G67660013A	ACD	NM_001082486.2(ACD):c.132C>T:p.Gly44=	coding	Benign
16	67660141	C	T	C67660141T	ACD	NM_001082486.2(ACD):c.80G>A:p.Arg27Gln	coding	Benign
16	67660317	G	A	G67660317A	ACD	NG_042874.1:g.5499C>T	coding	Benign
16	67661580	T	C	T67661580C	PARD6A	NM_016948.3(PARD6A):c.189T>C:p.Asp63=	coding	Benign
16	67729795	C	T	C67729795T	RANBP10	NM_020850.3(RANBP10):c.1032G>A:p.Thr344=	coding	Benign
16	67806363	G	A	G67806363A	RANBP10	NM_020850.3(RANBP10):c.174C>T:p.Ser58=	coding	Benign
16	67829764	C	T	C67829764T	CENPT	NM_025082.4(CENPT):c.1186+1G>A	noncoding	Pathogenic
16	67831596	A	G	A67831596G	CENPT	NM_025082.4(CENPT):c.540T>C:p.Ala180=	coding	Benign
16	67878198	G	A	G67878198A	EDC4	NM_014329.5(EDC4):c.927G>A:p.Gly309=	coding	Benign
16	67879319	T	G	T67879319G	EDC4	NM_014329.5(EDC4):c.1541+10T>G	noncoding	Benign
16	67886084	C	G	C67886084G	NRN1L	NM_198443.2(NRN1L):c.323C>G:p.Pro108Arg	coding	Benign
16	67886206	C	T	C67886206T	NRN1L	NM_198443.2(NRN1L):c.445C>T:p.Pro149Ser	coding	Benign
16	67930456	C	G	C67930456G	CTRL	NM_001907.3(CTRL):c.451G>C:p.Glu151Gln	coding	Benign
16	67930933	G	A	G67930933A	CTRL	NM_001907.3(CTRL):c.223C>T:p.His75Tyr	coding	Benign
16	67930946	C	A	C67930946A	CTRL	NM_001907.3(CTRL):c.210G>T:p.Val70=	coding	Benign
16	67931196	C	T	C67931196T	CTRL	NM_001907.3(CTRL):c.58G>A:p.Gly20Ser	coding	Benign
16	67940017	T	C	T67940017C	LCAT	NM_000229.2(LCAT):c.1210A>G:p.Met404Val	coding	Pathogenic
16	67940050	G	A	G67940050A	LCAT	NM_000229.2(LCAT):c.1177C>T:p.Leu393=	coding	Benign
16	67940115	G	A	G67940115A	LCAT	NM_000229.2(LCAT):c.1112C>T:p.Thr371Met	coding	Pathogenic
16	67940193	G	A	G67940193A	LCAT	NM_000229.2(LCAT):c.1034C>T:p.Thr345Met	coding	Pathogenic
16	67940230	C	T	C67940230T	LCAT	NM_000229.2(LCAT):c.997G>A:p.Val333Met	coding	Pathogenic
16	67940276	C	T	C67940276T	LCAT	NM_000229.2(LCAT):c.951G>A:p.Met317Ile	coding	Pathogenic
16	67940400	A	T	A67940400T	LCAT	NM_000229.2(LCAT):c.827T>A:p.Met276Lys	coding	Pathogenic
16	67940471	G	T	G67940471T	LCAT	NM_000229.2(LCAT):c.756C>A:p.Asn252Lys	coding	Pathogenic
16	67942413	A	G	A67942413G	LCAT	NM_000229.2(LCAT):c.698T>C:p.Leu233Pro	coding	Pathogenic
16	67942609	A	G	A67942609G	LCAT	NM_000229.2(LCAT):c.524-22T>C	noncoding	Pathogenic
16	67942686	A	G	A67942686G	LCAT	NM_000229.2(LCAT):c.508T>C:p.Trp170Arg	coding	Pathogenic
16	67942719	G	A	G67942719A	LCAT	NM_000229.2(LCAT):c.475C>T:p.Arg159Trp	coding	Pathogenic
16	67942731	T	C	T67942731C	LCAT	NM_000229.2(LCAT):c.463A>G:p.Asn155Asp	coding	Pathogenic
16	67942754	G	A	G67942754A	LCAT	NM_000229.2(LCAT):c.440C>T:p.Thr147Ile	coding	Pathogenic
16	67942948	C	T	C67942948T	LCAT	NM_000229.2(LCAT):c.340G>A:p.Val114Met	coding	Benign
16	67942967	G	T	G67942967T	LCAT	NM_000229.2(LCAT):c.321C>A:p.Tyr107Ter	coding	Pathogenic
16	67944001	G	A	G67944001A	LCAT	NM_000229.2(LCAT):c.101C>T:p.Pro34Leu	coding	Pathogenic
16	67979690	G	A	G67979690A	DPEP3	NM_001370198.1(DPEP3):c.363C>T:p.Ser121=	coding	Benign
16	68122295	C	T	C68122295T	NFATC3	NM_173165.3(NFATC3):c.412C>T:p.Arg138Trp	coding	Benign
16	68122699	G	A	G68122699A	NFATC3	NM_173165.3(NFATC3):c.816G>A:p.Gly272=	coding	Benign
16	68191498	A	G	A68191498G	NFATC3	NM_173165.3(NFATC3):c.2829A>G:p.Pro943=	coding	Benign
16	68230309	C	T	C68230309T	ESRP2	NM_024939.3(ESRP2):c.2071G>A:p.Ala691Thr	coding	Benign
16	68231569	C	T	C68231569T	ESRP2	NM_024939.3(ESRP2):c.1425G>A:p.Thr475=	coding	Benign
16	68291300	T	A	T68291300A	SLC7A6	NM_003983.6(SLC7A6):c.886T>A:p.Ser296Thr	coding	Benign
16	68296727	T	C	T68296727C	SLC7A6	NM_003983.6(SLC7A6):c.1370T>C:p.Ile457Thr	coding	Benign
16	68310857	C	T	C68310857T	SLC7A6OS	NM_032178.3(SLC7A6OS):c.70G>A:p.Val24Met	coding	Benign
16	68316074	G	C	G68316074C	PRMT7	NM_019023.5(PRMT7):c.95G>C:p.Arg32Thr	coding	Pathogenic
16	68324698	C	T	C68324698T	PRMT7	NM_019023.5(PRMT7):c.148C>T:p.Gln50Ter	coding	Pathogenic
16	68329105	G	T	G68329105T	PRMT7	NM_019023.5(PRMT7):c.322G>T:p.Glu108Ter	coding	Pathogenic/Likely_pathogenic
16	68339417	C	T	C68339417T	PRMT7	NM_019023.4(PRMT7):c.600C>T:p.His200=	coding	Benign
16	68339549	G	A	G68339549A	PRMT7	NM_019023.4(PRMT7):c.732G>A:p.Val244=	coding	Benign
16	68345728	G	A	G68345728A	PRMT7	NM_019023.4(PRMT7):c.981G>A:p.Val327=	coding	Benign
16	68345776	C	T	C68345776T	PRMT7	NM_019023.4(PRMT7):c.1029C>T:p.Cys343=	coding	Benign
16	68346144	G	T	G68346144T	PRMT7	NM_019023.4(PRMT7):c.1056-1G>T	noncoding	Pathogenic
16	68346151	A	G	A68346151G	PRMT7	NM_019023.4(PRMT7):c.1062A>G:p.Glu354=	coding	Benign
16	68346168	G	A	G68346168A	PRMT7	NM_019023.4(PRMT7):c.1079G>A:p.Arg360His	coding	Benign
16	68346248	A	G	A68346248G	PRMT7	NM_019023.5(PRMT7):c.1159A>G:p.Arg387Gly	coding	Pathogenic
16	68347630	G	A	G68347630A	PRMT7	NM_019023.4(PRMT7):c.1276-1G>A	noncoding	Pathogenic
16	68348420	C	T	C68348420T	PRMT7	NM_019023.5(PRMT7):c.1402C>T:p.Gln468Ter	coding	Pathogenic
16	68355785	C	A	C68355785A	PRMT7	NM_019023.5(PRMT7):c.1713C>A:p.Cys571Ter	coding	Pathogenic
16	68355790	G	A	G68355790A	PRMT7	NM_019023.5(PRMT7):c.1718G>A:p.Ser573Asn	coding	Benign/Likely_benign
16	68355860	C	T	C68355860T	PRMT7	NM_019023.4(PRMT7):c.1788C>T:p.Ala596=	coding	Benign
16	68644843	A	G	A68644843G	CDH3	NM_001793.5(CDH3):c.-537A>G	noncoding	Benign
16	68645731	C	G	C68645731G	CDH3	NM_001793.6(CDH3):c.141C>G:p.Pro47=	coding	Benign
16	68678096	A	G	A68678096G	CDH3	NM_001793.6(CDH3):c.247-38A>G	noncoding	Benign
16	68678194	C	T	C68678194T	CDH3	NM_001793.6(CDH3):c.307C>T:p.Arg103Ter	coding	Pathogenic
16	68678232	T	C	T68678232C	CDH3	NM_001793.6(CDH3):c.345T>C:p.Ser115=	coding	Benign/Likely_benign
16	68678314	T	C	T68678314C	CDH3	NM_001793.6(CDH3):c.390+37T>C	noncoding	Benign
16	68678827	C	A	C68678827A	CDH3	NM_001793.6(CDH3):c.612C>A:p.Ile204=	coding	Benign
16	68679827	G	A	G68679827A	CDH3	NM_001793.6(CDH3):c.720G>A:p.Thr240=	coding	Benign
16	68679854	C	A	C68679854A	CDH3	NM_001793.6(CDH3):c.747C>A:p.Tyr249Ter	coding	Pathogenic
16	68679912	A	C	A68679912C	CDH3	NM_001793.6(CDH3):c.805A>C:p.Met269Leu	coding	Benign/Likely_benign
16	68679920	C	A	C68679920A	CDH3	NM_001793.6(CDH3):c.813C>A:p.Thr271=	coding	Benign
16	68680995	C	T	C68680995T	CDH3	NM_001793.6(CDH3):c.895C>T:p.Gln299Ter	coding	Pathogenic
16	68681065	A	T	A68681065T	CDH3	NM_001793.6(CDH3):c.965A>T:p.Asn322Ile	coding	Pathogenic
16	68681109	C	T	C68681109T	CDH3	NM_001793.6(CDH3):c.996+13C>T	noncoding	Benign
16	68682368	G	T	G68682368T	CDH3	NM_001793.6(CDH3):c.1063G>T:p.Asp355Tyr	coding	Pathogenic
16	68682390	G	A	G68682390A	CDH3	NM_001793.6(CDH3):c.1085G>A:p.Trp362Ter	coding	Pathogenic
16	68682392	C	T	C68682392T	CDH3	NM_001793.6(CDH3):c.1087C>T:p.Arg363Cys	coding	Benign/Likely_benign
16	68684657	G	A	G68684657A	CDH3	NM_001793.6(CDH3):c.1257G>A:p.Lys419=	coding	Benign
16	68684685	G	A	G68684685A	CDH3	NM_001793.6(CDH3):c.1285G>A:p.Val429Ile	coding	Benign
16	68685210	G	A	G68685210A	CDH3	NM_001793.6(CDH3):c.1430G>A:p.Arg477His	coding	Benign
16	68685280	C	T	C68685280T	CDH3	NM_001793.6(CDH3):c.1500C>T:p.Thr500=	coding	Benign/Likely_benign
16	68685288	G	A	G68685288A	CDH3	NM_001793.6(CDH3):c.1508G>A:p.Arg503His	coding	Pathogenic
16	68687567	T	C	T68687567C	CDH3	NM_001793.6(CDH3):c.1626T>C:p.Asn542=	coding	Benign
16	68687630	G	C	G68687630C	CDH3	NM_001793.6(CDH3):c.1689G>C:p.Gln563His	coding	Benign
16	68687717	G	A	G68687717A	CDH3	NM_001793.6(CDH3):c.1776G>A:p.Thr592=	coding	Benign
16	68687737	G	C	G68687737C	CDH3	NM_001793.6(CDH3):c.1795+1G>C	coding	Pathogenic
16	68691880	G	A	G68691880A	CDH3	NM_001793.6(CDH3):c.1956G>A:p.Lys652=	coding	Benign
16	68695310	C	T	C68695310T	CDH3	NM_001793.6(CDH3):c.2058C>T:p.Pro686=	coding	Benign
16	68695882	C	A	C68695882A	CDH3	NM_001793.6(CDH3):c.2239C>A:p.Arg747=	coding	Benign
16	68695930	C	T	C68695930T	CDH3	NM_001793.6(CDH3):c.2280+7C>T	noncoding	Benign
16	68698554	G	T	G68698554T	CDH3	NM_001793.6(CDH3):c.*154G>T	noncoding	Benign
16	68698595	G	T	G68698595T	CDH3	NM_001793.6(CDH3):c.*195G>T	noncoding	Benign
16	68737131	C	A	C68737131A	CDH1	NG_008021.1:g.4840C>A	noncoding	Benign
16	68737345	C	G	C68737345G	CDH1	NM_004360.5(CDH1):c.-71C>G	noncoding	Benign
16	68737353	C	A	C68737353A	CDH1	NM_004360.5(CDH1):c.-63C>A	noncoding	Benign
16	68737362	G	C	G68737362C	CDH1	NM_004360.5(CDH1):c.-54G>C	noncoding	Benign/Likely_benign
16	68737367	G	T	G68737367T	CDH1	NM_004360.5(CDH1):c.-49G>T	noncoding	Benign/Likely_benign
16	68737416	A	G	A68737416G	CDH1	NM_004360.5(CDH1):c.1A>G:p.Met1Val	coding	Pathogenic
16	68737417	T	C	T68737417C	CDH1	NM_004360.5(CDH1):c.2T>C:p.Met1Thr	coding	Pathogenic
16	68737417	T	G	T68737417G	CDH1	NM_004360.5(CDH1):c.2T>G:p.Met1Arg	coding	Pathogenic
16	68737418	G	A	G68737418A	CDH1	NM_004360.5(CDH1):c.3G>A:p.Met1Ile	coding	Pathogenic
16	68737426	G	A	G68737426A	CDH1	NM_004360.5(CDH1):c.11G>A:p.Trp4Ter	coding	Pathogenic
16	68737441	C	A	C68737441A	CDH1	NM_004360.5(CDH1):c.26C>A:p.Ser9Ter	coding	Pathogenic
16	68737464	G	A	G68737464A	CDH1	NM_004360.5(CDH1):c.48+1G>A	coding	Pathogenic
16	68737468	C	G	C68737468G	CDH1	NM_004360.5(CDH1):c.48+5C>G	noncoding	Benign
16	68737469	C	T	C68737469T	CDH1	NM_004360.5(CDH1):c.48+6C>T	noncoding	Benign
16	68738295	A	G	A68738295G	CDH1	NM_004360.5(CDH1):c.49-2A>G	noncoding	Pathogenic
16	68738307	G	A	G68738307A	CDH1	NM_004360.5(CDH1):c.59G>A:p.Trp20Ter	coding	Pathogenic
16	68738308	G	A	G68738308A	CDH1	NM_004360.5(CDH1):c.60G>A:p.Trp20Ter	coding	Pathogenic
16	68738315	C	T	C68738315T	CDH1	NM_004360.5(CDH1):c.67C>T:p.Gln23Ter	coding	Pathogenic
16	68738318	G	T	G68738318T	CDH1	NM_004360.5(CDH1):c.70G>T:p.Glu24Ter	coding	Pathogenic
16	68738332	C	T	C68738332T	CDH1	NM_004360.5(CDH1):c.84C>T:p.Cys28=	coding	Benign/Likely_benign
16	68738336	C	A	C68738336A	CDH1	NM_004360.5(CDH1):c.88C>A:p.Pro30Thr	coding	Benign
16	68738351	G	T	G68738351T	CDH1	NM_004360.5(CDH1):c.103G>T:p.Glu35Ter	coding	Pathogenic/Likely_pathogenic
16	68801693	C	T	C68801693T	CDH1	NM_004360.5(CDH1):c.187C>T:p.Arg63Ter	coding	Pathogenic
16	68801694	G	A	G68801694A	CDH1	NM_004360.5(CDH1):c.188G>A:p.Arg63Gln	coding	Benign
16	68801726	C	T	C68801726T	CDH1	NM_004360.5(CDH1):c.220C>T:p.Arg74Ter	coding	Pathogenic
16	68801789	C	T	C68801789T	CDH1	NM_004360.5(CDH1):c.283C>T:p.Gln95Ter	coding	Pathogenic
16	68801792	A	G	A68801792G	CDH1	NM_004360.5(CDH1):c.286A>G:p.Ile96Val	coding	Benign
16	68801809	C	T	C68801809T	CDH1	NM_004360.5(CDH1):c.303C>T:p.Tyr101=	coding	Benign/Likely_benign
16	68801810	G	A	G68801810A	CDH1	NM_004360.5(CDH1):c.304G>A:p.Ala102Thr	coding	Benign
16	68801814	G	A	G68801814A	CDH1	NM_004360.5(CDH1):c.308G>A:p.Trp103Ter	coding	Pathogenic
16	68801830	A	G	A68801830G	CDH1	NM_004360.5(CDH1):c.324A>G:p.Arg108=	coding	Benign
16	68801851	G	A	G68801851A	CDH1	NM_004360.5(CDH1):c.345G>A:p.Thr115=	coding	Benign
16	68801898	G	A	G68801898A	CDH1	NM_004360.5(CDH1):c.387+5G>A	noncoding	Benign
16	68808429	C	T	C68808429T	CDH1	NM_004360.5(CDH1):c.393C>T:p.Ser131=	coding	Benign/Likely_benign
16	68808525	C	A	C68808525A	CDH1	NM_004360.5(CDH1):c.489C>A:p.Cys163Ter	coding	Pathogenic
16	68808565	C	T	C68808565T	CDH1	NM_004360.5(CDH1):c.529C>T:p.Gln177Ter	coding	Pathogenic
16	68808569	T	A	T68808569A	CDH1	NM_004360.5(CDH1):c.531+2T>A	noncoding	Pathogenic
16	68808577	G	C	G68808577C	CDH1	NM_004360.5(CDH1):c.531+10G>C	noncoding	Benign
16	68808675	C	T	C68808675T	CDH1	NM_004360.5(CDH1):c.532-18C>T	noncoding	Benign/Likely_benign
16	68808744	C	T	C68808744T	CDH1	NM_004360.5(CDH1):c.583C>T:p.Gln195Ter	coding	Pathogenic
16	68808765	G	A	G68808765A	CDH1	NM_004360.5(CDH1):c.604G>A:p.Val202Ile	coding	Benign
16	68808914	A	G	A68808914G	CDH1	NM_004360.5(CDH1):c.687+66A>G	noncoding	Benign
16	68810208	C	T	C68810208T	CDH1	NM_004360.5(CDH1):c.699C>T:p.His233=	coding	Benign/Likely_benign
16	68810224	G	A	G68810224A	CDH1	NM_004360.5(CDH1):c.715G>A:p.Gly239Arg	coding	Pathogenic/Likely_pathogenic
16	68810262	G	A	G68810262A	CDH1	NM_004360.5(CDH1):c.753G>A:p.Thr251=	coding	Benign/Likely_benign
16	68810269	G	T	G68810269T	CDH1	NM_004360.5(CDH1):c.760G>T:p.Asp254Tyr	coding	Pathogenic
16	68810342	G	T	G68810342T	CDH1	NM_004360.5(CDH1):c.832+1G>T	coding	Pathogenic
16	68810350	A	T	A68810350T	CDH1	NM_004360.5(CDH1):c.832+9A>T	noncoding	Benign/Likely_benign
16	68811668	C	G	C68811668G	CDH1	NM_004360.5(CDH1):c.833-16C>G	noncoding	Benign
16	68811682	A	G	A68811682G	CDH1	NM_004360.5(CDH1):c.833-2A>G	noncoding	Pathogenic
16	68811683	G	A	G68811683A	CDH1	NM_004360.5(CDH1):c.833-1G>A	noncoding	Pathogenic
16	68811709	C	A	C68811709A	CDH1	NM_004360.5(CDH1):c.858C>A:p.Ala286=	coding	Benign/Likely_benign
16	68811718	G	A	G68811718A	CDH1	NM_004360.5(CDH1):c.867G>A:p.Ala289=	coding	Benign/Likely_benign
16	68811721	C	T	C68811721T	CDH1	NM_004360.5(CDH1):c.870C>T:p.Asp290=	coding	Benign/Likely_benign
16	68811739	C	A	C68811739A	CDH1	NM_004360.5(CDH1):c.888C>A:p.Tyr296Ter	coding	Pathogenic
16	68811743	G	A	G68811743A	CDH1	NM_004360.5(CDH1):c.892G>A:p.Ala298Thr	coding	Benign
16	68811745	C	T	C68811745T	CDH1	NM_004360.5(CDH1):c.894C>T:p.Ala298=	coding	Benign/Likely_benign
16	68811784	C	G	C68811784G	CDH1	NM_004360.5(CDH1):c.933C>G:p.Leu311=	coding	Benign
16	68811791	A	T	A68811791T	CDH1	NM_004360.5(CDH1):c.940A>T:p.Lys314Ter	coding	Pathogenic
16	68811854	C	T	C68811854T	CDH1	NM_004360.5(CDH1):c.1003C>T:p.Arg335Ter	coding	Pathogenic
16	68812121	C	T	C68812121T	CDH1	NM_004360.5(CDH1):c.1009-14C>T	noncoding	Benign/Likely_benign
16	68812144	A	G	A68812144G	CDH1	NM_004360.5(CDH1):c.1018A>G:p.Thr340Ala	coding	Benign
16	68812146	G	A	G68812146A	CDH1	NM_004360.5(CDH1):c.1020G>A:p.Thr340=	coding	Benign/Likely_benign
16	68812149	T	G	T68812149G	CDH1	NM_004360.5(CDH1):c.1023T>G:p.Tyr341Ter	coding	Pathogenic
16	68812177	C	T	C68812177T	CDH1	NM_004360.5(CDH1):c.1051C>T:p.Gln351Ter	coding	Pathogenic
16	68812263	G	A	G68812263A	CDH1	NM_004360.5(CDH1):c.1137G>A:p.Thr379=	coding	Pathogenic
16	68812349	T	G	T68812349G	CDH1	NM_004360.5(CDH1):c.1137+86T>G	noncoding	Benign
16	68813322	C	T	C68813322T	CDH1	NM_004360.5(CDH1):c.1147C>T:p.Gln383Ter	coding	Pathogenic
16	68813336	C	T	C68813336T	CDH1	NM_004360.5(CDH1):c.1161C>T:p.Asn387=	coding	Benign/Likely_benign
16	68813337	G	A	G68813337A	CDH1	NM_004360.5(CDH1):c.1162G>A:p.Glu388Lys	coding	Benign
16	68813364	A	T	A68813364T	CDH1	NM_004360.5(CDH1):c.1189A>T:p.Lys397Ter	coding	Pathogenic
16	68813399	G	A	G68813399A	CDH1	NM_004360.5(CDH1):c.1224G>A:p.Ala408=	coding	Benign/Likely_benign
16	68813402	G	A	G68813402A	CDH1	NM_004360.5(CDH1):c.1227G>A:p.Trp409Ter	coding	Pathogenic
16	68813414	C	T	C68813414T	CDH1	NM_004360.5(CDH1):c.1239C>T:p.Tyr413=	coding	Benign/Likely_benign
16	68813447	C	T	C68813447T	CDH1	NM_004360.5(CDH1):c.1272C>T:p.Val424=	coding	Benign/Likely_benign
16	68813471	C	T	C68813471T	CDH1	NM_004360.5(CDH1):c.1296C>T:p.Asn432=	coding	Benign/Likely_benign
16	68813473	A	G	A68813473G	CDH1	NM_004360.5(CDH1):c.1298A>G:p.Asp433Gly	coding	Benign
16	68813483	G	A	G68813483A	CDH1	NM_004360.5(CDH1):c.1308G>A:p.Leu436=	coding	Benign/Likely_benign
16	68813489	A	G	A68813489G	CDH1	NM_004360.5(CDH1):c.1314A>G:p.Thr438=	coding	Benign/Likely_benign
16	68813495	G	T	G68813495T	CDH1	NM_004360.5(CDH1):c.1320G>T:p.Lys440Asn	coding	Pathogenic
16	68815547	T	C	T68815547C	CDH1	NM_004360.5(CDH1):c.1353T>C:p.Ile451=	coding	Benign/Likely_benign
16	68815553	C	T	C68815553T	CDH1	NM_004360.5(CDH1):c.1359C>T:p.His453=	coding	Benign/Likely_benign
16	68815586	C	T	C68815586T	CDH1	NM_004360.5(CDH1):c.1392C>T:p.Val464=	coding	Benign/Likely_benign
16	68815603	C	T	C68815603T	CDH1	NM_004360.5(CDH1):c.1409C>T:p.Thr470Ile	coding	Benign
16	68815725	C	T	C68815725T	CDH1	NM_004360.5(CDH1):c.1531C>T:p.Gln511Ter	coding	Pathogenic
16	68815760	G	A	G68815760A	CDH1	NM_004360.5(CDH1):c.1565+1G>A	coding	Pathogenic
16	68815760	G	C	G68815760C	CDH1	NM_004360.5(CDH1):c.1565+1G>C	coding	Pathogenic
16	68815760	G	T	G68815760T	CDH1	NM_004360.5(CDH1):c.1565+1G>T	coding	Pathogenic
16	68819292	G	A	G68819292A	CDH1	NM_004360.5(CDH1):c.1578G>A:p.Trp526Ter	coding	Pathogenic
16	68819309	G	A	G68819309A	CDH1	NM_004360.5(CDH1):c.1595G>A:p.Trp532Ter	coding	Pathogenic
16	68819393	C	G	C68819393G	CDH1	NM_004360.5(CDH1):c.1679C>G:p.Thr560Arg	coding	Pathogenic
16	68819394	G	C	G68819394C	CDH1	NM_004360.5(CDH1):c.1680G>C:p.Thr560=	coding	Benign/Likely_benign
16	68819403	C	T	C68819403T	CDH1	NM_004360.5(CDH1):c.1689C>T:p.Ala563=	coding	Benign/Likely_benign
16	68822033	C	T	C68822033T	CDH1	NM_004360.5(CDH1):c.1744C>T:p.Leu582=	coding	Benign/Likely_benign
16	68822062	C	T	C68822062T	CDH1	NM_004360.5(CDH1):c.1773C>T:p.Asn591=	coding	Benign/Likely_benign
16	68822063	G	A	G68822063A	CDH1	NM_004360.5(CDH1):c.1774G>A:p.Ala592Thr	coding	Benign
16	68822081	C	T	C68822081T	CDH1	NM_004360.5(CDH1):c.1792C>T:p.Arg598Ter	coding	Pathogenic
16	68822138	G	A	G68822138A	CDH1	NM_004360.5(CDH1):c.1849G>A:p.Ala617Thr	coding	Benign
16	68822177	C	G	C68822177G	CDH1	NM_004360.5(CDH1):c.1888C>G:p.Leu630Val	coding	Benign
16	68822185	C	T	C68822185T	CDH1	NM_004360.5(CDH1):c.1896C>T:p.His632=	coding	Benign
16	68822202	G	A	G68822202A	CDH1	NM_004360.5(CDH1):c.1913G>A:p.Trp638Ter	coding	Pathogenic
16	68822203	G	A	G68822203A	CDH1	NM_004360.5(CDH1):c.1914G>A:p.Trp638Ter	coding	Pathogenic
16	68822210	C	T	C68822210T	CDH1	NM_004360.5(CDH1):c.1921C>T:p.Gln641Ter	coding	Pathogenic
16	68822976	G	A	G68822976A	CDH1	NM_004360.5(CDH1):c.1937-423G>A	noncoding	Benign
16	68823386	T	C	T68823386C	CDH1	NM_004360.5(CDH1):c.1937-13T>C	noncoding	Benign
16	68823401	C	T	C68823401T	CDH1	NM_004360.5(CDH1):c.1939C>T:p.Gln647Ter	coding	Pathogenic
16	68823490	C	A	C68823490A	CDH1	NM_004360.5(CDH1):c.2028C>A:p.Asp676Glu	coding	Pathogenic
16	68823538	T	C	T68823538C	CDH1	NM_004360.5(CDH1):c.2076T>C:p.Ala692=	coding	Benign
16	68823539	G	A	G68823539A	CDH1	NM_004360.5(CDH1):c.2077G>A:p.Gly693Ser	coding	Benign/Likely_benign
16	68823541	C	T	C68823541T	CDH1	NM_004360.5(CDH1):c.2079C>T:p.Gly693=	coding	Benign/Likely_benign
16	68823553	G	A	G68823553A	CDH1	NM_004360.5(CDH1):c.2091G>A:p.Lys697=	coding	Benign/Likely_benign
16	68823557	C	T	C68823557T	CDH1	NM_004360.5(CDH1):c.2095C>T:p.Gln699Ter	coding	Pathogenic
16	68823565	C	T	C68823565T	CDH1	NM_004360.5(CDH1):c.2103C>T:p.Val701=	coding	Benign/Likely_benign
16	68823566	G	A	G68823566A	CDH1	NM_004360.5(CDH1):c.2104G>A:p.Glu702Lys	coding	Benign
16	68823628	T	C	T68823628C	CDH1	NM_004360.5(CDH1):c.2164+2T>C	noncoding	Pathogenic
16	68828157	C	T	C68828157T	CDH1	NM_004360.5(CDH1):c.2165-17C>T	noncoding	Benign/Likely_benign
16	68828159	C	A	C68828159A	CDH1	NM_004360.5(CDH1):c.2165-15C>A	noncoding	Benign/Likely_benign
16	68828262	C	T	C68828262T	CDH1	NM_004360.5(CDH1):c.2253C>T:p.Asn751=	coding	Benign
16	68828271	C	A	C68828271A	CDH1	NM_004360.5(CDH1):c.2262C>A:p.Tyr754Ter	coding	Pathogenic
16	68828274	T	A	T68828274A	CDH1	NM_004360.5(CDH1):c.2265T>A:p.Tyr755Ter	coding	Pathogenic
16	68828296	G	T	G68828296T	CDH1	NM_004360.5(CDH1):c.2287G>T:p.Glu763Ter	coding	Pathogenic
16	68828301	C	T	C68828301T	CDH1	NM_004360.5(CDH1):c.2292C>T:p.Asp764=	coding	Benign/Likely_benign
16	68828302	C	T	C68828302T	CDH1	NM_004360.5(CDH1):c.2293C>T:p.Gln765Ter	coding	Pathogenic
16	68828470	C	T	C68828470T	CDH1	NM_004360.5(CDH1):c.2295+166C>T	noncoding	Benign
16	68828984	T	A	T68828984A	CDH1	NM_004360.5(CDH1):c.2296-670T>A	noncoding	Benign
16	68829653	G	A	G68829653A	CDH1	NM_004360.5(CDH1):c.2296-1G>A	noncoding	Pathogenic/Likely_pathogenic
16	68829680	G	A	G68829680A	CDH1	NM_004360.5(CDH1):c.2322G>A:p.Arg774=	coding	Benign/Likely_benign
16	68829689	C	T	C68829689T	CDH1	NM_004360.5(CDH1):c.2331C>T:p.Asp777=	coding	Benign/Likely_benign
16	68829757	G	A	G68829757A	CDH1	NM_004360.5(CDH1):c.2399G>A:p.Arg800His	coding	Benign
16	68829770	C	T	C68829770T	CDH1	NM_004360.5(CDH1):c.2412C>T:p.Pro804=	coding	Benign/Likely_benign
16	68829771	G	A	G68829771A	CDH1	NM_004360.5(CDH1):c.2413G>A:p.Asp805Asn	coding	Benign
16	68829807	C	T	C68829807T	CDH1	NM_004360.5(CDH1):c.2439+10C>T	noncoding	Benign/Likely_benign
16	68829819	C	T	C68829819T	CDH1	NM_004360.5(CDH1):c.2439+22C>T	noncoding	Benign
16	68833284	C	G	C68833284G	CDH1	NM_004360.5(CDH1):c.2440-6C>G	noncoding	Benign/Likely_benign
16	68833344	G	A	G68833344A	CDH1	NM_004360.5(CDH1):c.2494G>A:p.Val832Met	coding	Benign
16	68833356	G	T	G68833356T	CDH1	NM_004360.5(CDH1):c.2506G>T:p.Glu836Ter	coding	Pathogenic
16	68833364	C	T	C68833364T	CDH1	NM_004360.5(CDH1):c.2514C>T:p.Ser838=	coding	Benign/Likely_benign
16	68833370	C	T	C68833370T	CDH1	NM_004360.5(CDH1):c.2520C>T:p.Ser840=	coding	Benign/Likely_benign
16	68833439	C	T	C68833439T	CDH1	NM_004360.5(CDH1):c.2589C>T:p.Asn863=	coding	Benign/Likely_benign
16	68833484	C	T	C68833484T	CDH1	NM_004360.5(CDH1):c.2634C>T:p.Gly878=	coding	Benign
16	68833487	C	T	C68833487T	CDH1	NM_004360.5(CDH1):c.2637C>T:p.Gly879=	coding	Benign/Likely_benign
16	68833493	C	T	C68833493T	CDH1	NM_004360.5(CDH1):c.2643C>T:p.Asp881=	coding	Benign/Likely_benign
16	68833515	C	T	C68833515T	CDH1	NM_004360.5(CDH1):c.*16C>T	noncoding	Benign
16	68833553	C	T	C68833553T	CDH1	NM_004360.5(CDH1):c.*54C>T	noncoding	Benign
16	68833708	C	T	C68833708T	CDH1	NM_004360.5(CDH1):c.*209C>T	noncoding	Benign
16	68833909	A	T	A68833909T	CDH1	NM_004360.5(CDH1):c.*410A>T	noncoding	Benign
16	68834619	T	C	T68834619C	CDH1	NM_004360.5(CDH1):c.*1120T>C	noncoding	Benign
16	68834675	T	G	T68834675G	CDH1	NM_004360.5(CDH1):c.*1176T>G	noncoding	Benign
16	68835161	G	C	G68835161C	CDH1	NM_004360.5(CDH1):c.*1662G>C	noncoding	Benign
16	68835190	G	T	G68835190T	CDH1	NM_004360.5(CDH1):c.*1691G>T	noncoding	Benign
16	68835192	G	T	G68835192T	CDH1	NM_004360.5(CDH1):c.*1693G>T	noncoding	Benign
16	68835334	T	C	T68835334C	CDH1	NM_004360.5(CDH1):c.*1835T>C	noncoding	Benign
16	68835372	G	A	G68835372A	CDH1	NM_004360.5(CDH1):c.*1873G>A	noncoding	Benign
16	68835546	A	G	A68835546G	CDH1	NC_000016.10:g.68835546A>G	noncoding	Benign
16	68835549	T	A	T68835549A	CDH1	NC_000016.10:g.68835549T>A	noncoding	Benign
16	69109609	C	T	C69109609T	HAS3	NM_001199280.2(HAS3):c.214C>T:p.Arg72Cys	coding	Benign
16	69115181	C	G	C69115181G	HAS3	NM_001199280.2(HAS3):c.1577C>G:p.Ala526Gly	coding	Benign
16	69115194	A	G	A69115194G	HAS3	NM_001199280.2(HAS3):c.1590A>G:p.Leu530=	coding	Benign
16	69136806	G	A	G69136806A	UTP4	NM_032830.3(UTP4):c.270G>A:p.Ala90=	coding	Benign
16	69143365	C	T	C69143365T	UTP4	NM_032830.3(UTP4):c.714C>T:p.Asp238=	coding	Benign
16	69150859	A	G	A69150859G	UTP4	NM_032830.3(UTP4):c.957A>G:p.Glu319=	coding	Benign
16	69153595	C	T	C69153595T	UTP4	NM_032830.3(UTP4):c.1014C>T:p.Ile338=	coding	Benign
16	69154465	A	G	A69154465G	UTP4	NM_032830.3(UTP4):c.1164+8A>G	noncoding	Benign/Likely_benign
16	69155963	T	C	T69155963C	UTP4	NM_032830.3(UTP4):c.1257T>C:p.Asn419=	coding	Benign
16	69157109	G	A	G69157109A	UTP4	NM_032830.3(UTP4):c.1313G>A:p.Arg438His	coding	Benign
16	69165386	C	T	C69165386T	UTP4	NM_032830.3(UTP4):c.1693C>T:p.Arg565Trp	coding	Benign
16	69165481	C	T	C69165481T	UTP4	NM_032830.3(UTP4):c.1788C>T:p.Ile596=	coding	Benign
16	69167147	C	T	C69167147T	UTP4	NM_032830.3(UTP4):c.1906C>T:p.Arg636Cys	coding	Benign
16	69169005	A	G	A69169005G	UTP4	NM_032830.3(UTP4):c.*68A>G	noncoding	Benign
16	69316091	G	A	G69316091A	VPS4A	NM_013245.3(VPS4A):c.105G>A:p.Ala35=	coding	Benign
16	69328874	T	A	T69328874A	COG8	NM_022341.2(PDF):c.*148A>T	noncoding	Benign
16	69328876	C	A	C69328876A	COG8	NM_022341.2(PDF):c.*146G>T	noncoding	Benign
16	69330937	G	T	G69330937T	COG8	NM_032382.4(COG8):c.1741C>A:p.Pro581Thr	coding	Benign/Likely_benign
16	69330954	G	A	G69330954A	COG8	NM_032382.5(COG8):c.1724C>T:p.Thr575Ile	coding	Benign/Likely_benign
16	69331067	G	C	G69331067C	COG8	NM_032382.4(COG8):c.1611C>G:p.Tyr537Ter	coding	Pathogenic
16	69331087	G	A	G69331087A	COG8	NM_032382.4(COG8):c.1591C>T:p.Pro531Ser	coding	Benign/Likely_benign
16	69331089	G	A	G69331089A	COG8	NM_032382.4(COG8):c.1589C>T:p.Pro530Leu	coding	Benign
16	69331096	C	T	C69331096T	COG8	NM_032382.5(COG8):c.1583-1G>A	coding	Pathogenic
16	69334520	C	T	C69334520T	COG8	NM_032382.5(COG8):c.1413+1G>A	noncoding	Pathogenic
16	69335230	A	G	A69335230G	COG8	NM_032382.5(COG8):c.704T>C:p.Met235Thr	coding	Benign/Likely_benign
16	69336512	A	G	A69336512G	COG8	NM_032382.5(COG8):c.578T>C:p.Val193Ala	coding	Benign/Likely_benign
16	69339511	T	C	T69339511C	COG8	NM_032382.4(COG8):c.42A>G:p.Thr14=	coding	Benign
16	69366892	G	C	G69366892C	TERF2	NM_005652.5(TERF2):c.1255C>G:p.Leu419Val	coding	Benign
16	69367182	G	T	G69367182T	TERF2	NM_005652.5(TERF2):c.965C>A:p.Pro322Gln	coding	Benign
16	69368402	C	T	C69368402T	TERF2	NM_005652.5(TERF2):c.921G>A:p.Val307=	coding	Benign
16	69647162	G	A	G69647162A	NFAT5	NM_138713.4(NFAT5):c.388G>A:p.Val130Met	coding	Benign
16	69647467	A	G	A69647467G	NFAT5	NM_138713.4(NFAT5):c.693A>G:p.Lys231=	coding	Benign
16	69659893	T	C	T69659893C	NFAT5	NM_138713.4(NFAT5):c.1363T>C:p.Leu455=	coding	Benign
16	69684893	C	G	C69684893G	NFAT5	NM_138713.4(NFAT5):c.1697C>G:p.Ala566Gly	coding	Benign
16	69691004	A	G	A69691004G	NFAT5	NM_138713.4(NFAT5):c.1839A>G:p.Pro613=	coding	Benign
16	69691794	T	G	T69691794G	NFAT5	NM_138713.4(NFAT5):c.1969T>G:p.Ser657Ala	coding	Benign
16	69691904	G	A	G69691904A	NFAT5	NM_138713.4(NFAT5):c.2079G>A:p.Leu693=	coding	Benign
16	69691946	T	C	T69691946C	NFAT5	NM_138713.4(NFAT5):c.2121T>C:p.Phe707=	coding	Benign
16	69692351	G	A	G69692351A	NFAT5	NM_138713.4(NFAT5):c.2526G>A:p.Glu842=	coding	Benign
16	69692804	A	C	A69692804C	NFAT5	NM_138713.4(NFAT5):c.2979A>C:p.Ala993=	coding	Benign
16	69693176	T	C	T69693176C	NFAT5	NM_138713.4(NFAT5):c.3351T>C:p.Ile1117=	coding	Benign
16	69693577	A	G	A69693577G	NFAT5	NM_138713.4(NFAT5):c.3752A>G:p.Gln1251Arg	coding	Benign
16	69710994	C	G	C69710994G	NQO1	NM_000903.3(NQO1):c.807G>C:p.Gln269His	coding	Benign
16	69754868	G	A	G69754868A	NOB1	NM_014062.3(NOB1):c.43C>T:p.Leu15=	coding	Benign
16	69842088	C	T	C69842088T	WWP2	NM_001270454.2(WWP2):c.543C>T:p.Pro181=	coding	Benign
16	69871818	C	T	C69871818T	WWP2	NM_001270454.2(WWP2):c.590C>T:p.Ser197Leu	coding	Benign
16	69933104	A	G	A69933104G	WWP2;MIR140	NM_007014.5(WWP2):c.1683-866A>G	coding	Pathogenic
16	70127360	T	C	T70127360C	PDPR	NM_017990.5(PDPR):c.328T>C:p.Tyr110His	coding	Benign
16	70252470	T	G	T70252470G	AARS1	NM_001605.2(AARS1):c.*251A>C	noncoding	Benign
16	70252580	T	C	T70252580C	AARS1	NM_001605.3(AARS1):c.*141A>G	noncoding	Benign
16	70252647	T	A	T70252647A	AARS1	NM_001605.2(AARS1):c.*74A>T	noncoding	Benign
16	70252728	T	A	T70252728A	AARS1	NM_001605.2(AARS1):c.2900A>T:p.Lys967Met	coding	Benign/Likely_benign
16	70252837	C	T	C70252837T	AARS1	NM_001605.2(AARS1):c.2791G>A:p.Gly931Ser	coding	Benign/Likely_benign
16	70253274	A	G	A70253274G	AARS1	NM_001605.2(AARS1):c.2715T>C:p.Val905=	coding	Benign
16	70253289	C	T	C70253289T	AARS1	NM_001605.2(AARS1):c.2700G>A:p.Thr900=	coding	Benign/Likely_benign
16	70253387	G	T	G70253387T	AARS1	NM_001605.2(AARS1):c.2608-6C>A	noncoding	Benign
16	70253671	A	G	A70253671G	AARS1	NM_001605.2(AARS1):c.2607+43T>C	noncoding	Benign
16	70253729	G	A	G70253729A	AARS1	NM_001605.3(AARS1):c.2592C>T:p.Ser864=	coding	Benign/Likely_benign
16	70254321	A	G	A70254321G	AARS1	NM_001605.2(AARS1):c.2401-283T>C	noncoding	Benign
16	70254829	T	C	T70254829C	AARS1	NM_001605.2(AARS1):c.2287-95A>G	noncoding	Benign
16	70258221	C	T	C70258221T	AARS1	NM_001605.2(AARS1):c.1993-4G>A	noncoding	Benign/Likely_benign
16	70259034	G	C	G70259034C	AARS1	NM_001605.3(AARS1):c.1938C>G:p.Thr646=	coding	Benign
16	70261092	G	A	G70261092A	AARS1	NM_001605.2(AARS1):c.1737C>T:p.Ile579=	coding	Benign/Likely_benign
16	70261144	G	A	G70261144A	AARS1	NM_001605.2(AARS1):c.1685C>T:p.Thr562Ile	coding	Benign/Likely_benign
16	70261161	A	T	A70261161T	AARS1	NM_001605.2(AARS1):c.1672-4T>A	noncoding	Benign/Likely_benign
16	70262385	G	A	G70262385A	AARS1	NM_001605.2(AARS1):c.1632C>T:p.Asp544=	coding	Benign/Likely_benign
16	70262508	C	T	C70262508T	AARS1	NM_001605.2(AARS1):c.1509G>A:p.Val503=	coding	Benign/Likely_benign
16	70262711	A	G	A70262711G	AARS1	NM_001605.2(AARS1):c.1493-187T>C	noncoding	Benign
16	70262752	G	A	G70262752A	AARS1	NM_001605.2(AARS1):c.1493-228C>T	noncoding	Benign
16	70264654	A	G	A70264654G	AARS1	NM_001605.2(AARS1):c.1492+304T>C	noncoding	Benign
16	70264759	A	G	A70264759G	AARS1	NM_001605.2(AARS1):c.1492+199T>C	noncoding	Benign
16	70265022	C	G	C70265022G	AARS1	NM_001605.2(AARS1):c.1428G>C:p.Arg476=	coding	Benign/Likely_benign
16	70265040	G	A	G70265040A	AARS1	NM_001605.2(AARS1):c.1410C>T:p.Ile470=	coding	Benign/Likely_benign
16	70265046	G	A	G70265046A	AARS1	NM_001605.2(AARS1):c.1404C>T:p.Tyr468=	coding	Benign
16	70265498	G	C	G70265498C	AARS1	NM_001605.2(AARS1):c.1347+40C>G	noncoding	Benign
16	70265517	T	C	T70265517C	AARS1	NM_001605.2(AARS1):c.1347+21A>G	noncoding	Benign
16	70265553	C	T	C70265553T	AARS1	NM_001605.2(AARS1):c.1332G>A:p.Glu444=	coding	Benign
16	70268298	C	G	C70268298G	AARS1	NM_001605.2(AARS1):c.1044G>C:p.Thr348=	coding	Benign
16	70268354	G	A	G70268354A	AARS1	NM_001605.3(AARS1):c.988C>T:p.Arg330Ter	coding	Pathogenic
16	70268356	C	T	C70268356T	AARS1	NM_001605.3(AARS1):c.986G>A:p.Arg329His	coding	Pathogenic
16	70268430	T	G	T70268430G	AARS1	NM_001605.2(AARS1):c.963-51A>C	noncoding	Benign
16	70269600	A	G	A70269600G	AARS1	NM_001605.2(AARS1):c.962+18T>C	noncoding	Benign
16	70269677	G	A	G70269677A	AARS1	NM_001605.2(AARS1):c.903C>T:p.His301=	coding	Benign
16	70269756	C	T	C70269756T	AARS1	NM_001605.2(AARS1):c.824G>A:p.Gly275Asp	coding	Benign
16	70270268	T	C	T70270268C	AARS1	NM_001605.3(AARS1):c.744A>G:p.Val248=	coding	Benign
16	70270271	C	T	C70270271T	AARS1	NM_001605.2(AARS1):c.741G>A:p.Leu247=	coding	Benign/Likely_benign
16	70270312	G	A	G70270312A	AARS1	NM_001605.2(AARS1):c.700C>T:p.Pro234Ser	coding	Benign/Likely_benign
16	70271601	C	G	C70271601G	AARS1	NM_001605.2(AARS1):c.671+180G>C	noncoding	Benign
16	70271778	T	C	T70271778C	AARS1	NM_001605.2(AARS1):c.671+3A>G	noncoding	Benign
16	70271891	G	A	G70271891A	AARS1	NM_001605.2(AARS1):c.561C>T:p.Cys187=	coding	Benign/Likely_benign
16	70277088	T	A	T70277088A	AARS1	NM_001605.3(AARS1):c.211A>T:p.Asn71Tyr	coding	Pathogenic
16	70282700	C	T	C70282700T	AARS1	NM_001605.2(AARS1):c.64G>A:p.Glu22Lys	coding	Benign/Likely_benign
16	70463202	G	A	G70463202A	FCSK	NM_145059.3(FCSK):c.12G>A:p.Pro4=	coding	Benign
16	70468944	G	A	G70468944A	FCSK	NM_145059.3(FCSK):c.759G>A:p.Leu253=	coding	Benign
16	70470973	G	A	G70470973A	FCSK	NM_145059.3(FCSK):c.1071G>A:p.Glu357=	coding	Benign
16	70475707	G	A	G70475707A	FCSK	NM_145059.3(FCSK):c.2581G>A:p.Val861Met	coding	Benign
16	70479230	A	C	A70479230C	FCSK	NM_145059.3(FCSK):c.2980A>C:p.Lys994Gln	coding	Pathogenic
16	70481062	A	C	A70481062C	COG4	NM_015386.3(COG4):c.2318T>G:p.Leu773Arg	coding	Pathogenic
16	70481160	T	C	T70481160C	COG4	NM_015386.3(COG4):c.2236-16A>G	noncoding	Benign
16	70481397	G	A	G70481397A	COG4	NM_015386.3(COG4):c.2197C>T:p.Arg733Trp	coding	Pathogenic
16	70481431	C	T	C70481431T	COG4	NM_015386.3(COG4):c.2163G>A:p.Thr721=	coding	Benign
16	70481452	C	T	C70481452T	COG4	NM_015386.3(COG4):c.2142G>A:p.Ser714=	coding	Benign
16	70481840	T	C	T70481840C	COG4	NM_015386.3(COG4):c.2030A>G:p.Asp677Gly	coding	Benign
16	70482809	C	A	C70482809A	COG4	NM_015386.3(COG4):c.1840G>T:p.Glu614Ter	coding	Pathogenic
16	70483921	G	T	G70483921T	COG4	NM_015386.3(COG4):c.1759C>A:p.Gln587Lys	coding	Benign/Likely_benign
16	70490313	G	C	G70490313C	COG4	NM_015386.3(COG4):c.1710+17C>G	noncoding	Benign
16	70496308	T	G	T70496308G	COG4	NM_015386.3(COG4):c.1605A>C:p.Thr535=	coding	Benign/Likely_benign
16	70496353	G	A	G70496353A	COG4	NM_015386.3(COG4):c.1560C>T:p.Ala520=	coding	Benign/Likely_benign
16	70496367	C	G	C70496367G	COG4	NM_015386.3(COG4):c.1546G>C:p.Gly516Arg	coding	Pathogenic
16	70497851	T	G	T70497851G	COG4	NM_015386.3(COG4):c.1314+86A>C	noncoding	Benign
16	70500950	G	A	G70500950A	COG4	NM_015386.3(COG4):c.1195+8C>T	noncoding	Benign
16	70501079	G	A	G70501079A	COG4	NM_015386.3(COG4):c.1074C>T:p.Pro358=	coding	Benign/Likely_benign
16	70509336	C	T	C70509336T	COG4	NM_015386.3(COG4):c.897G>A:p.Gly299=	coding	Benign
16	70509406	A	G	A70509406G	COG4	NM_015386.3(COG4):c.845-18T>C	noncoding	Benign
16	70509914	A	T	A70509914T	COG4	NM_015386.3(COG4):c.844+2T>A	noncoding	Pathogenic
16	70510030	G	C	G70510030C	COG4	NM_015386.3(COG4):c.739-9C>G	noncoding	Benign
16	70512280	C	A	C70512280A	COG4	NM_015386.3(COG4):c.697G>T:p.Glu233Ter	coding	Pathogenic
16	70512331	G	A	G70512331A	COG4	NM_015386.3(COG4):c.646C>T:p.Leu216=	coding	Benign
16	70514316	A	T	A70514316T	COG4	NM_015386.3(COG4):c.544+19T>A	noncoding	Benign
16	70514394	G	A	G70514394A	COG4	NM_015386.3(COG4):c.485C>T:p.Thr162Ile	coding	Benign
16	70523355	A	G	A70523355G	COG4	NM_015386.3(COG4):c.171+18T>C	noncoding	Benign
16	70523471	C	A	C70523471A	COG4	NM_015386.3(COG4):c.73G>T:p.Gly25Ter	coding	Pathogenic
16	70656955	C	T	C70656955T	IL34	NM_152456.2(IL34):c.241-5C>T	noncoding	Benign
16	70659677	A	G	A70659677G	IL34	NM_152456.2(IL34):c.462A>G:p.Pro154=	coding	Benign
16	70660067	C	T	C70660067T	IL34	NM_152456.2(IL34):c.609C>T:p.Pro203=	coding	Benign
16	70687968	C	T	C70687968T	VAC14	NM_018052.5(VAC14):c.2309G>A:p.Ser770Asn	coding	Benign
16	70692835	C	T	C70692835T	VAC14	NM_018052.5(VAC14):c.2172G>A:p.Glu724=	coding	Benign
16	70695545	T	C	T70695545C	VAC14	NM_018052.5(VAC14):c.2034A>G:p.Thr678=	coding	Benign
16	70697198	C	T	C70697198T	VAC14	NM_018052.5(VAC14):c.1896G>A:p.Thr632=	coding	Benign
16	70698725	G	A	G70698725A	VAC14	NM_018052.5(VAC14):c.1748C>T:p.Ser583Leu	coding	Pathogenic
16	70698729	C	A	C70698729A	VAC14	NM_018052.5(VAC14):c.1744G>T:p.Ala582Ser	coding	Pathogenic
16	70731631	T	C	T70731631C	VAC14	NM_018052.5(VAC14):c.1529-4A>G	noncoding	Benign
16	70744422	C	T	C70744422T	VAC14	NM_018052.5(VAC14):c.1528+1G>A	noncoding	Pathogenic
16	70762591	C	T	C70762591T	VAC14	NM_018052.5(VAC14):c.1320G>A:p.Thr440=	coding	Benign
16	70762915	C	A	C70762915A	VAC14	NM_018052.5(VAC14):c.1271G>T:p.Trp424Leu	coding	Pathogenic
16	70781935	G	A	G70781935A	VAC14	NM_018052.5(VAC14):c.880C>T:p.Leu294=	coding	Benign
16	70783537	C	T	C70783537T	VAC14	NM_018052.5(VAC14):c.612G>A:p.Ser204=	coding	Benign
16	70785767	T	C	T70785767C	VAC14	NM_018052.5(VAC14):c.358A>G:p.Ile120Val	coding	Benign
16	70785860	G	A	G70785860A	VAC14	NM_018052.5(VAC14):c.265C>T:p.Leu89Phe	coding	Benign
16	70800838	C	T	C70800838T	VAC14	NM_018052.5(VAC14):c.63G>A:p.Lys21=	coding	Benign
16	70855244	A	G	A70855244G	HYDIN	NM_001270974.2(HYDIN):c.12327T>C:p.Ile4109=	coding	Benign
16	70860008	C	T	C70860008T	HYDIN	NM_001270974.2(HYDIN):c.12129+60G>A	noncoding	Benign
16	70921012	G	T	G70921012T	HYDIN	NM_001270974.2(HYDIN):c.7364C>A:p.Pro2455Gln	coding	Benign
16	70938692	T	C	T70938692C	HYDIN	NM_001270974.2(HYDIN):c.6917A>G:p.Glu2306Gly	coding	Benign
16	70981426	G	T	G70981426T	HYDIN	NM_001270974.2(HYDIN):c.4475C>A:p.Pro1492His	coding	Benign
16	70988133	C	A	C70988133A	HYDIN	NM_001270974.2(HYDIN):c.3985G>T:p.Val1329Leu	coding	Pathogenic
16	70991397	C	A	C70991397A	HYDIN	NM_001270974.2(HYDIN):c.3786-1G>T	coding	Pathogenic
16	71031657	C	T	C71031657T	HYDIN	NM_001270974.2(HYDIN):c.2768+22G>A	coding	Benign
16	71129790	A	G	A71129790G	HYDIN	NM_001270974.2(HYDIN):c.1077T>C:p.Asp359=	coding	Benign
16	71137272	T	A	T71137272A	HYDIN	NM_001270974.2(HYDIN):c.922A>T:p.Lys308Ter	coding	Pathogenic
16	71186852	A	G	A71186852G	HYDIN	NM_001270974.2(HYDIN):c.44T>C:p.Met15Thr	coding	Benign
16	71230620	T	A	T71230620A	HYDIN	NM_001270974.2(HYDIN):c.-82A>T	coding	Benign
16	71230658	A	G	A71230658G	HYDIN	NM_001270974.2(HYDIN):c.-120T>C	coding	Benign
16	71566868	A	T	A71566868T	TAT	NM_000353.3(TAT):c.*1276T>A	noncoding	Benign
16	71568034	G	A	G71568034A	TAT	NM_000353.3(TAT):c.*110C>T	noncoding	Benign
16	71568260	G	A	G71568260A	TAT	NM_000353.3(TAT):c.1249C>T:p.Arg417Ter	coding	Pathogenic
16	71568267	A	G	A71568267G	TAT	NM_000353.3(TAT):c.1242T>C:p.Asn414=	coding	Benign
16	71568718	G	A	G71568718A	TAT	NM_000353.3(TAT):c.1217C>T:p.Pro406Leu	coding	Pathogenic
16	71568762	C	T	C71568762T	TAT	NM_000353.3(TAT):c.1173G>A:p.Glu391=	coding	Benign
16	71569894	C	A	C71569894A	TAT	NM_000353.3(TAT):c.1085G>T:p.Gly362Val	coding	Pathogenic
16	71570702	G	A	G71570702A	TAT	NM_000353.3(TAT):c.889C>T:p.Arg297Ter	coding	Pathogenic
16	71570787	G	A	G71570787A	TAT	NM_000353.3(TAT):c.804C>T:p.Thr268=	coding	Benign
16	71572224	G	C	G71572224C	TAT	NM_000353.3(TAT):c.668C>G:p.Ser223Ter	coding	Pathogenic
16	71575953	C	T	C71575953T	TAT	NM_000353.3(TAT):c.309G>A:p.Ser103=	coding	Benign
16	71576031	T	C	T71576031C	TAT	NM_000353.3(TAT):c.236-5A>G	noncoding	Pathogenic
16	71576247	G	A	G71576247A	TAT	NM_000353.3(TAT):c.169C>T:p.Arg57Ter	coding	Pathogenic/Likely_pathogenic
16	71576283	G	A	G71576283A	TAT	NM_000353.3(TAT):c.133C>T:p.Pro45Ser	coding	Benign
16	71576373	G	A	G71576373A	TAT	NM_000353.3(TAT):c.43C>T:p.Pro15Ser	coding	Benign
16	71649856	G	A	G71649856A	PHLPP2	NM_015020.3(PHLPP2):c.3006C>T:p.His1002=	coding	Benign
16	71921411	A	G	A71921411G	IST1	NM_001270975.2(IST1):c.510A>G:p.Ala170=	coding	Benign
16	71950207	G	A	G71950207A	PKD1L3	NM_181536.1(PKD1L3):c.3294C>T:p.Ser1098=	coding	Benign
16	71953034	G	C	G71953034C	PKD1L3	NM_181536.1(PKD1L3):c.2869C>G:p.Leu957Val	coding	Benign
16	72008783	A	C	A72008783C	DHODH	NM_001361.5(DHODH):c.19A>C:p.Lys7Gln	coding	Benign
16	72012100	C	T	C72012100T	DHODH	NM_001361.5(DHODH):c.72C>T:p.Phe24=	coding	Benign/Likely_benign
16	72014532	C	T	C72014532T	DHODH	NM_001361.5(DHODH):c.294C>T:p.Asp98=	coding	Benign/Likely_benign
16	72014641	C	T	C72014641T	DHODH	NM_001361.5(DHODH):c.403C>T:p.Arg135Cys	coding	Pathogenic/Likely_pathogenic
16	72017046	C	A	C72017046A	DHODH	NM_001361.5(DHODH):c.457C>A:p.Leu153Ile	coding	Benign
16	72021179	G	A	G72021179A	DHODH	NM_001361.5(DHODH):c.573G>A:p.Ala191=	coding	Benign/Likely_benign
16	72021201	C	T	C72021201T	DHODH	NM_001361.5(DHODH):c.595C>T:p.Arg199Cys	coding	Pathogenic
16	72021211	G	A	G72021211A	DHODH	NM_001361.5(DHODH):c.605G>A:p.Gly202Asp	coding	Pathogenic
16	72021211	G	C	G72021211C	DHODH	NM_001361.5(DHODH):c.605G>C:p.Gly202Ala	coding	Pathogenic
16	72022386	C	T	C72022386T	DHODH	NM_001361.5(DHODH):c.730C>T:p.Arg244Trp	coding	Pathogenic
16	72022485	G	A	G72022485A	DHODH	NM_001361.5(DHODH):c.819+10G>A	noncoding	Benign
16	72023483	C	T	C72023483T	DHODH	NM_001361.5(DHODH):c.983C>T:p.Pro328Leu	coding	Benign
16	72023522	C	T	C72023522T	DHODH	NM_001361.5(DHODH):c.1022C>T:p.Ala341Val	coding	Benign
16	72023536	C	T	C72023536T	DHODH	NM_001361.5(DHODH):c.1036C>T:p.Arg346Trp	coding	Pathogenic
16	72024603	G	A	G72024603A	DHODH	NM_001361.5(DHODH):c.*404G>A	noncoding	Benign
16	72024768	G	A	G72024768A	DHODH	NM_001361.5(DHODH):c.*569G>A	noncoding	Benign
16	72024773	G	T	G72024773T	DHODH	NM_001361.5(DHODH):c.*574G>T	noncoding	Benign
16	72025213	C	T	C72025213T	DHODH	NM_001361.5(DHODH):c.*1014C>T	noncoding	Benign
16	72025250	A	G	A72025250G	DHODH	NM_001361.5(DHODH):c.*1051A>G	noncoding	Benign
16	72025370	T	C	T72025370C	DHODH	NM_001361.5(DHODH):c.*1171T>C	noncoding	Benign
16	72056163	C	A	C72056163A	HP	NM_005143.5(HP):c.8C>A:p.Ala3Asp	coding	Benign
16	72056553	G	A	G72056553A	HP	NM_005143.5(HP):c.112G>A:p.Glu38Lys	coding	Benign
16	72057415	A	G	A72057415G	HP	NM_005143.5(HP):c.214A>G:p.Lys72Glu	coding	Benign
16	72060626	C	T	C72060626T	HP	NM_005143.5(HP):c.957C>T:p.Pro319=	coding	Benign
16	72060755	C	T	C72060755T	HP	NM_005143.5(HP):c.1086C>T:p.His362=	coding	Benign
16	72060779	T	C	T72060779C	HP	NM_005143.5(HP):c.1110T>C:p.Tyr370=	coding	Benign
16	72076424	G	T	G72076424T	HPR	NM_020995.3(HPR):c.390G>T:p.Gly130=	coding	Benign
16	72076568	G	T	G72076568T	HPR	NM_020995.3(HPR):c.534G>T:p.Val178=	coding	Benign
16	72076983	C	T	C72076983T	HPR	NM_020995.3(HPR):c.949C>T:p.Leu317=	coding	Benign
16	72077049	C	G	C72077049G	HPR	NM_020995.3(HPR):c.1015C>G:p.His339Asp	coding	Benign
16	72098957	G	A	G72098957A	DHX38	NM_014003.4(DHX38):c.795G>A:p.Thr265=	coding	Benign
16	72101588	C	T	C72101588T	DHX38	NM_014003.4(DHX38):c.1475C>T:p.Thr492Met	coding	Benign
16	72101621	C	T	C72101621T	DHX38	NM_014003.4(DHX38):c.1499+9C>T	noncoding	Benign
16	72103782	C	T	C72103782T	DHX38	NM_014003.4(DHX38):c.1818C>T:p.Gly606=	coding	Benign
16	72104092	C	T	C72104092T	DHX38	NM_014003.4(DHX38):c.1971C>T:p.Arg657=	coding	Benign
16	72107741	C	T	C72107741T	DHX38	NM_014003.4(DHX38):c.2906C>T:p.Ser969Phe	coding	Benign
16	72108349	C	T	C72108349T	DHX38	NM_014003.4(DHX38):c.3087C>T:p.Asn1029=	coding	Benign
16	72109507	G	C	G72109507C	DHX38	NM_014003.4(DHX38):c.3474G>C:p.Arg1158=	coding	Benign
16	72122957	G	A	G72122957A	PMFBP1	NM_031293.3(PMFBP1):c.2725C>T:p.Arg909Ter	coding	Pathogenic
16	72130708	G	A	G72130708A	PMFBP1	NM_031293.3(PMFBP1):c.1462C>T:p.Gln488Ter	coding	Pathogenic
16	72154298	A	T	A72154298T	PMFBP1	NM_031293.3(PMFBP1):c.327T>A:p.Tyr109Ter	coding	Pathogenic
16	72787445	G	A	G72787445A	ZFHX3	NM_006885.4(ZFHX3):c.10831C>T:p.His3611Tyr	coding	Benign
16	72788061	G	C	G72788061C	ZFHX3	NM_006885.4(ZFHX3):c.10215C>G:p.Pro3405=	coding	Benign
16	72788746	G	A	G72788746A	ZFHX3	NM_006885.4(ZFHX3):c.9530C>T:p.Ser3177Leu	coding	Benign
16	72950770	G	A	G72950770A	ZFHX3	NM_006885.4(ZFHX3):c.2915C>T:p.Ser972Leu	coding	Benign
16	72957816	A	G	A72957816G	ZFHX3	NM_006885.4(ZFHX3):c.2330T>C:p.Val777Ala	coding	Benign
16	72958832	C	A	C72958832A	ZFHX3	NM_006885.4(ZFHX3):c.1314G>T:p.Ala438=	coding	Benign
16	74301101	T	C	T74301101C	PSMD7	NM_002811.5(PSMD7):c.216T>C:p.His72=	coding	Benign
16	74532160	G	A	G74532160A	GLG1	NM_001145667.2(GLG1):c.439-7C>T	noncoding	Benign
16	74628465	C	G	C74628465G	RFWD3	NM_018124.4(RFWD3):c.1956G>C:p.Val652=	coding	Benign
16	74628505	A	T	A74628505T	RFWD3	NM_018124.4(RFWD3):c.1916T>A:p.Ile639Lys	coding	Pathogenic
16	74637874	C	T	C74637874T	RFWD3	NM_018124.4(RFWD3):c.1176G>A:p.Arg392=	coding	Benign
16	74637950	A	G	A74637950G	RFWD3	NM_018124.4(RFWD3):c.1100T>C:p.Met367Thr	coding	Benign
16	74649149	T	C	T74649149C	RFWD3	NM_018124.4(RFWD3):c.775A>G:p.Lys259Glu	coding	Benign
16	74682727	G	A	G74682727A	MLKL	NM_152649.4(MLKL):c.880C>T:p.Leu294=	coding	Benign
16	74691297	T	C	T74691297C	MLKL	NM_152649.4(MLKL):c.702A>G:p.Lys234=	coding	Benign
16	74695458	G	C	G74695458C	MLKL	NM_152649.4(MLKL):c.300C>G:p.Asp100Glu	coding	Benign
16	74695757	T	C	T74695757C	MLKL	NM_152649.4(MLKL):c.1A>G:p.Met1Val	coding	Benign
16	74713059	T	G	T74713059G	FA2H	NM_024306.5(FA2H):c.*1131A>C	noncoding	Benign
16	74713061	C	T	C74713061T	FA2H	NM_024306.5(FA2H):c.*1129G>A	noncoding	Benign
16	74713126	G	C	G74713126C	FA2H	NM_024306.5(FA2H):c.*1064C>G	noncoding	Benign
16	74713553	C	G	C74713553G	FA2H	NM_024306.5(FA2H):c.*637G>C	noncoding	Benign
16	74713786	A	T	A74713786T	FA2H	NM_024306.5(FA2H):c.*404T>A	noncoding	Benign
16	74713907	C	G	C74713907G	FA2H	NM_024306.5(FA2H):c.*283G>C	noncoding	Benign
16	74713909	G	T	G74713909T	FA2H	NM_024306.5(FA2H):c.*281C>A	noncoding	Benign
16	74713947	C	T	C74713947T	FA2H	NM_024306.5(FA2H):c.*243G>A	noncoding	Benign
16	74714156	C	T	C74714156T	FA2H	NM_024306.5(FA2H):c.*34G>A	noncoding	Benign
16	74714222	T	G	T74714222G	FA2H	NM_024306.5(FA2H):c.1087A>C:p.Thr363Pro	coding	Benign/Likely_benign
16	74716331	A	C	A74716331C	FA2H	NM_024306.5(FA2H):c.1039+16T>G	noncoding	Benign
16	74716339	A	G	A74716339G	FA2H	NM_024306.5(FA2H):c.1039+8T>C	noncoding	Benign
16	74716418	G	A	G74716418A	FA2H	NM_024306.5(FA2H):c.968C>T:p.Pro323Leu	coding	Pathogenic
16	74716453	A	G	A74716453G	FA2H	NM_024306.5(FA2H):c.933T>C:p.Tyr311=	coding	Benign
16	74716481	G	A	G74716481A	FA2H	NM_024306.5(FA2H):c.905C>T:p.Ala302Val	coding	Benign
16	74716498	T	C	T74716498C	FA2H	NM_024306.5(FA2H):c.888A>G:p.Val296=	coding	Benign
16	74716507	G	A	G74716507A	FA2H	NM_024306.5(FA2H):c.879C>T:p.Pro293=	coding	Benign
16	74716539	C	T	C74716539T	FA2H	NM_024306.5(FA2H):c.847G>A:p.Val283Ile	coding	Benign/Likely_benign
16	74718987	C	T	C74718987T	FA2H	NM_024306.5(FA2H):c.786+1G>A	noncoding	Pathogenic
16	74719067	A	G	A74719067G	FA2H	NM_024306.5(FA2H):c.707T>C:p.Phe236Ser	coding	Pathogenic
16	74719181	C	T	C74719181T	FA2H	NM_024306.5(FA2H):c.614-21G>A	noncoding	Benign
16	74726249	G	A	G74726249A	FA2H	NM_024306.5(FA2H):c.589C>T:p.Arg197Ter	coding	Pathogenic
16	74726273	G	A	G74726273A	FA2H	NM_024306.5(FA2H):c.565C>T:p.Arg189Ter	coding	Pathogenic
16	74726301	C	T	C74726301T	FA2H	NM_024306.5(FA2H):c.537G>A:p.Leu179=	coding	Benign
16	74727290	G	A	G74727290A	FA2H	NM_024306.5(FA2H):c.460C>T:p.Arg154Cys	coding	Pathogenic
16	74727307	G	A	G74727307A	FA2H	NM_024306.5(FA2H):c.443C>T:p.Pro148Leu	coding	Pathogenic/Likely_pathogenic
16	74740097	G	C	G74740097C	FA2H	NM_024306.5(FA2H):c.289C>G:p.Pro97Ala	coding	Benign/Likely_benign
16	74774527	G	A	G74774527A	FA2H	NM_024306.5(FA2H):c.229C>T:p.Leu77=	coding	Benign
16	74774653	C	A	C74774653A	FA2H	NM_024306.5(FA2H):c.103G>T:p.Asp35Tyr	coding	Pathogenic
16	74774654	G	C	G74774654C	FA2H	NM_024306.5(FA2H):c.102C>G:p.Tyr34Ter	coding	Pathogenic
16	74774839	C	G	C74774839G	FA2H	NM_024306.4(FA2H):c.-84G>C	noncoding	Benign
16	74874248	G	A	G74874248A	WDR59	NM_030581.4(WDR59):c.2886C>T:p.Thr962=	coding	Benign
16	74887695	C	A	C74887695A	WDR59	NM_030581.4(WDR59):c.2407G>T:p.Gly803Cys	coding	Benign
16	74888208	A	G	A74888208G	WDR59	NM_030581.4(WDR59):c.2307T>C:p.Pro769=	coding	Benign
16	74909573	T	C	T74909573C	WDR59	NM_030581.4(WDR59):c.1570A>G:p.Thr524Ala	coding	Benign
16	74915992	G	C	G74915992C	WDR59	NM_030581.4(WDR59):c.1102C>G:p.Leu368Val	coding	Benign
16	74922013	G	C	G74922013C	WDR59	NM_030581.4(WDR59):c.820C>G:p.Pro274Ala	coding	Benign
16	74965814	C	T	C74965814T	WDR59	NM_030581.4(WDR59):c.63G>A:p.Ala21=	coding	Benign
16	75112615	C	T	C75112615T	LDHD	NM_153486.3(LDHD):c.1345G>A:p.Glu449Lys	coding	Benign
16	75112631	C	G	C75112631G	LDHD	NM_153486.3(LDHD):c.1329G>C:p.Arg443Ser	coding	Benign
16	75114624	C	G	C75114624G	LDHD	NM_153486.3(LDHD):c.531G>C:p.Ala177=	coding	Benign
16	75114681	T	C	T75114681C	LDHD	NM_153486.3(LDHD):c.474A>G:p.Pro158=	coding	Benign
16	75114695	G	A	G75114695A	LDHD	NM_153486.3(LDHD):c.470-10C>T	noncoding	Benign
16	75233836	G	A	G75233836A	BCAR1	NM_014567.5(BCAR1):c.2100+10C>T	noncoding	Benign
16	75233868	T	C	T75233868C	BCAR1	NM_014567.5(BCAR1):c.2078A>G:p.Lys693Arg	coding	Benign
16	75235131	C	T	C75235131T	BCAR1	NM_014567.5(BCAR1):c.1768G>A:p.Ala590Thr	coding	Benign
16	75235197	C	T	C75235197T	BCAR1	NM_014567.5(BCAR1):c.1702G>A:p.Gly568Ser	coding	Benign
16	75235226	T	C	T75235226C	BCAR1	NM_014567.5(BCAR1):c.1673A>G:p.His558Arg	coding	Benign
16	75235357	G	A	G75235357A	BCAR1	NM_014567.5(BCAR1):c.1542C>T:p.Ala514=	coding	Benign
16	75235427	C	A	C75235427A	BCAR1	NM_014567.5(BCAR1):c.1472G>T:p.Arg491Leu	coding	Benign
16	75235480	G	A	G75235480A	BCAR1	NM_014567.5(BCAR1):c.1419C>T:p.Thr473=	coding	Benign
16	75235543	T	G	T75235543G	BCAR1	NM_014567.5(BCAR1):c.1356A>C:p.Glu452Asp	coding	Benign
16	75235550	C	A	C75235550A	BCAR1	NM_014567.5(BCAR1):c.1349G>T:p.Gly450Val	coding	Benign
16	75235666	C	T	C75235666T	BCAR1	NM_014567.5(BCAR1):c.1233G>A:p.Ala411=	coding	Benign
16	75235684	G	A	G75235684A	BCAR1	NM_014567.5(BCAR1):c.1215C>T:p.Val405=	coding	Benign
16	75235831	C	T	C75235831T	BCAR1	NM_014567.5(BCAR1):c.1068G>A:p.Pro356=	coding	Benign
16	75235832	G	A	G75235832A	BCAR1	NM_014567.5(BCAR1):c.1067C>T:p.Pro356Leu	coding	Benign
16	75473176	G	A	G75473176A	CHST6	NM_021615.5(CHST6):c.*5465C>T	noncoding	Benign
16	75473196	C	T	C75473196T	CHST6	NM_021615.5(CHST6):c.*5445G>A	noncoding	Benign
16	75473200	G	A	G75473200A	CHST6	NM_021615.5(CHST6):c.*5441C>T	noncoding	Benign
16	75473355	T	A	T75473355A	CHST6	NM_021615.5(CHST6):c.*5286A>T	noncoding	Benign
16	75473454	A	C	A75473454C	CHST6	NM_021615.5(CHST6):c.*5187T>G	noncoding	Benign
16	75474649	A	G	A75474649G	CHST6	NM_021615.5(CHST6):c.*3992T>C	noncoding	Benign
16	75475176	A	G	A75475176G	CHST6	NM_021615.5(CHST6):c.*3465T>C	noncoding	Benign
16	75475685	C	T	C75475685T	CHST6	NM_021615.5(CHST6):c.*2956G>A	noncoding	Benign
16	75475808	A	C	A75475808C	CHST6	NM_021615.5(CHST6):c.*2833T>G	noncoding	Benign
16	75476617	G	C	G75476617C	CHST6	NM_021615.5(CHST6):c.*2024C>G	noncoding	Benign
16	75476674	G	A	G75476674A	CHST6	NM_021615.5(CHST6):c.*1967C>T	noncoding	Benign
16	75476722	G	A	G75476722A	CHST6	NM_021615.5(CHST6):c.*1919C>T	noncoding	Benign
16	75477075	A	C	A75477075C	CHST6	NM_021615.5(CHST6):c.*1566T>G	noncoding	Benign
16	75477215	G	T	G75477215T	CHST6	NM_021615.5(CHST6):c.*1426C>A	noncoding	Benign
16	75477266	C	T	C75477266T	CHST6	NM_021615.5(CHST6):c.*1375G>A	noncoding	Benign
16	75477583	C	T	C75477583T	CHST6	NM_021615.5(CHST6):c.*1058G>A	noncoding	Benign
16	75477594	C	A	C75477594A	CHST6	NM_021615.5(CHST6):c.*1047G>T	noncoding	Benign
16	75477650	T	C	T75477650C	CHST6	NM_021615.5(CHST6):c.*991A>G	noncoding	Benign
16	75477686	G	A	G75477686A	CHST6	NM_021615.5(CHST6):c.*955C>T	noncoding	Benign
16	75478035	C	T	C75478035T	CHST6	NM_021615.5(CHST6):c.*606G>A	noncoding	Benign
16	75478264	C	T	C75478264T	CHST6	NM_021615.5(CHST6):c.*377G>A	noncoding	Benign
16	75478937	G	A	G75478937A	CHST6	NM_021615.5(CHST6):c.892C>T:p.Gln298Ter	coding	Pathogenic
16	75479001	C	T	C75479001T	CHST6	NM_021615.5(CHST6):c.828G>A:p.Leu276=	coding	Benign
16	75479002	A	G	A75479002G	CHST6	NM_021615.5(CHST6):c.827T>C:p.Leu276Pro	coding	Pathogenic
16	75479061	G	A	G75479061A	CHST6	NM_021615.5(CHST6):c.768C>T:p.Ala256=	coding	Benign
16	75479163	G	A	G75479163A	CHST6	NM_021615.5(CHST6):c.666C>T:p.Asn222=	coding	Benign
16	75479220	G	T	G75479220T	CHST6	NM_021615.5(CHST6):c.609C>A:p.Asp203Glu	coding	Pathogenic
16	75479230	A	C	A75479230C	CHST6	NM_021615.5(CHST6):c.599T>G:p.Leu200Arg	coding	Pathogenic
16	75479308	T	C	T75479308C	CHST6	NM_021615.5(CHST6):c.521A>G:p.Lys174Arg	coding	Pathogenic
16	75479345	G	C	G75479345C	CHST6	NM_021615.5(CHST6):c.484C>G:p.Arg162Gly	coding	Benign
16	75479364	C	T	C75479364T	CHST6	NM_021615.5(CHST6):c.465G>A:p.Arg155=	coding	Benign
16	75479500	T	C	T75479500C	CHST6	NM_021615.5(CHST6):c.329A>G:p.Tyr110Cys	coding	Pathogenic
16	75479525	A	C	A75479525C	CHST6	NM_021615.5(CHST6):c.304T>G:p.Cys102Gly	coding	Pathogenic
16	75479535	G	C	G75479535C	CHST6	NM_021615.5(CHST6):c.294C>G:p.Ser98=	coding	Benign
16	75479552	G	T	G75479552T	CHST6	NM_021615.5(CHST6):c.277C>A:p.Arg93Ser	coding	Pathogenic
16	75479571	T	G	T75479571G	CHST6	NM_021615.5(CHST6):c.258A>C:p.Ala86=	coding	Benign
16	75479592	G	A	G75479592A	CHST6	NM_021615.5(CHST6):c.237C>T:p.Thr79=	coding	Benign/Likely_benign
16	75479657	G	A	G75479657A	CHST6	NM_021615.5(CHST6):c.172C>T:p.Gln58Ter	coding	Pathogenic
16	75479699	G	A	G75479699A	CHST6	NM_021615.5(CHST6):c.130C>T:p.Leu44=	coding	Benign/Likely_benign
16	75479700	C	T	C75479700T	CHST6	NM_021615.5(CHST6):c.129G>A:p.Val43=	coding	Benign
16	75479709	G	A	G75479709A	CHST6	NM_021615.5(CHST6):c.120C>T:p.Arg40=	coding	Benign
16	75479828	T	A	T75479828A	CHST6	NM_021615.5(CHST6):c.1A>T:p.Met1Leu	coding	Pathogenic
16	75529421	C	G	C75529421G	CHST5	NM_024533.5(CHST5):c.964G>C:p.Glu322Gln	coding	Benign
16	75529454	C	T	C75529454T	CHST5	NM_024533.5(CHST5):c.931G>A:p.Ala311Thr	coding	Benign
16	75539986	T	C	T75539986C	TMEM231	NM_001077418.3(TMEM231):c.*8A>G	noncoding	Benign
16	75540045	A	G	A75540045G	TMEM231	NM_001077418.3(TMEM231):c.900T>C:p.Ile300=	coding	Benign/Likely_benign
16	75540130	T	G	T75540130G	TMEM231	NM_001077418.3(TMEM231):c.815A>C:p.Gln272Pro	coding	Pathogenic
16	75540132	C	T	C75540132T	TMEM231	NM_001077418.3(TMEM231):c.813G>A:p.Val271=	coding	Benign
16	75540141	G	A	G75540141A	TMEM231	NM_001077418.3(TMEM231):c.804C>T:p.Phe268=	coding	Benign/Likely_benign
16	75541466	A	G	A75541466G	TMEM231	NM_001077418.3(TMEM231):c.665-11T>C	noncoding	Pathogenic
16	75542598	T	C	T75542598C	TMEM231	NM_001077418.3(TMEM231):c.664+4A>G	noncoding	Pathogenic
16	75542602	C	T	C75542602T	TMEM231	NM_001077418.3(TMEM231):c.664G>A:p.Val222Ile	coding	Pathogenic/Likely_pathogenic
16	75545335	A	T	A75545335T	TMEM231	NM_001077418.3(TMEM231):c.582+17T>A	noncoding	Benign
16	75545344	G	C	G75545344C	TMEM231	NM_001077418.3(TMEM231):c.582+8C>G	noncoding	Benign
16	75545349	T	C	T75545349C	TMEM231	NM_001077418.3(TMEM231):c.582+3A>G	noncoding	Benign
16	75545436	C	T	C75545436T	TMEM231	NM_001077418.3(TMEM231):c.498G>A:p.Pro166=	coding	Benign/Likely_benign
16	75545463	C	T	C75545463T	TMEM231	NM_001077418.3(TMEM231):c.471G>A:p.Ala157=	coding	Benign
16	75545825	C	T	C75545825T	TMEM231	NM_001077418.3(TMEM231):c.438+1G>A	noncoding	Pathogenic
16	75545888	G	A	G75545888A	TMEM231	NM_001077418.3(TMEM231):c.376C>T:p.Leu126=	coding	Benign
16	75545912	A	C	A75545912C	TMEM231	NM_001077418.3(TMEM231):c.352T>G:p.Leu118Val	coding	Pathogenic
16	75555509	G	A	G75555509A	TMEM231	NM_001077418.3(TMEM231):c.309+295C>T	noncoding	Benign
16	75555936	C	G	C75555936G	TMEM231	NM_001077418.3(TMEM231):c.177G>C:p.Pro59=	coding	Benign
16	75556001	G	C	G75556001C	TMEM231	NM_001077418.3(TMEM231):c.140-28C>G	coding	Benign/Likely_benign
16	75556024	G	T	G75556024T	TMEM231	NM_001077418.3(TMEM231):c.139+47C>A	coding	Pathogenic
16	75556194	G	C	G75556194C	TMEM231	NM_001077418.3(TMEM231):c.16C>G:p.Leu6Val	coding	Benign
16	75556198	A	T	A75556198T	TMEM231	NM_001077416.2(TMEM231):c.74T>A:p.Met25Lys	coding	Pathogenic
16	75556215	C	G	C75556215G	TMEM231	NM_001077418.3(TMEM231):c.-6G>C	coding	Benign
16	75556260	C	T	C75556260T	TMEM231	NM_001077416.2(TMEM231):c.12G>A:p.Arg4=	coding	Benign/Likely_benign
16	75627905	G	C	G75627905C	KARS1	NM_005548.3(KARS1):c.1784C>G:p.Thr595Ser	coding	Benign
16	75628590	G	A	G75628590A	KARS1	NM_005548.3(KARS1):c.1674C>T:p.Leu558=	coding	Benign/Likely_benign
16	75629536	C	T	C75629536T	KARS1	NM_005548.2(KARS1):c.1430G>A:p.Arg477His	coding	Pathogenic
16	75631507	G	A	G75631507A	KARS1	NM_001130089.1(KARS1):c.1245C>T:p.Phe415=	coding	Benign
16	75631596	G	A	G75631596A	KARS1	NM_005548.3(KARS1):c.1079-7C>T	noncoding	Benign
16	75631726	C	T	C75631726T	KARS1	NM_001130089.1(KARS1):c.1129G>A:p.Asp377Asn	coding	Pathogenic
16	75635688	A	C	A75635688C	KARS1	NM_001130089.1(KARS1):c.871T>G:p.Phe291Val	coding	Pathogenic
16	75635716	A	G	A75635716G	KARS1	NM_005548.3(KARS1):c.759T>C:p.Tyr253=	coding	Benign
16	75635969	T	C	T75635969C	KARS1	NM_005548.3(KARS1):c.612A>G:p.Thr204=	coding	Benign
16	75635980	A	G	A75635980G	KARS1	NM_005548.3(KARS1):c.601T>C:p.Tyr201His	coding	Benign
16	75635982	G	A	G75635982A	KARS1	NM_005548.2(KARS1):c.599C>T:p.Pro200Leu	coding	Pathogenic/Likely_pathogenic
16	75636503	A	G	A75636503G	KARS1	NM_001130089.1(KARS1):c.517T>C:p.Tyr173His	coding	Pathogenic
16	75636510	G	A	G75636510A	KARS1	NM_001130089.1(KARS1):c.510C>T:p.Leu170=	coding	Benign/Likely_benign
16	75640110	C	T	C75640110T	KARS1	NM_001130089.1(KARS1):c.472+74G>A	noncoding	Benign
16	75640258	A	T	A75640258T	KARS1	NM_005548.2(KARS1):c.314T>A:p.Leu105His	coding	Pathogenic
16	75641616	T	C	T75641616C	KARS1	NM_005548.3(KARS1):c.170A>G:p.Asn57Ser	coding	Benign
16	75641711	T	C	T75641711C	KARS1	NM_005548.3(KARS1):c.75A>G:p.Arg25=	coding	Benign
16	75644376	G	A	G75644376A	KARS1	NM_001130089.1(KARS1):c.53C>T:p.Ser18Phe	coding	Benign
16	77199473	C	G	C77199473G	SYCE1L	NM_014940.4(MON1B):c.*1165C>G	coding	Benign/Likely_benign
16	77212570	G	C	G77212570C	SYCE1L	NM_001129979.3(SYCE1L):c.582-4G>C	noncoding	Benign
16	77284049	G	A	G77284049A	ADAMTS18	NM_199355.4(ADAMTS18):c.3573C>T:p.Phe1191=	coding	Benign
16	77284057	C	T	C77284057T	ADAMTS18	NM_199355.4(ADAMTS18):c.3565G>A:p.Val1189Ile	coding	Benign
16	77289289	G	A	G77289289A	ADAMTS18	NM_199355.4(ADAMTS18):c.3525C>T:p.Asn1175=	coding	Benign
16	77289313	C	T	C77289313T	ADAMTS18	NM_199355.4(ADAMTS18):c.3501G>A:p.Pro1167=	coding	Benign
16	77289341	G	C	G77289341C	ADAMTS18	NM_199355.4(ADAMTS18):c.3473C>G:p.Ser1158Ter	coding	Pathogenic
16	77289415	C	G	C77289415G	ADAMTS18	NM_199355.4(ADAMTS18):c.3403-4G>C	noncoding	Benign
16	77293108	G	A	G77293108A	ADAMTS18	NM_199355.4(ADAMTS18):c.3157C>T:p.Arg1053Trp	coding	Benign
16	77293145	C	T	C77293145T	ADAMTS18	NM_199355.4(ADAMTS18):c.3120G>A:p.Gln1040=	coding	Benign
16	77300396	C	A	C77300396A	ADAMTS18	NM_199355.4(ADAMTS18):c.2541G>T:p.Met847Ile	coding	Benign
16	77319873	G	A	G77319873A	ADAMTS18	NM_199355.4(ADAMTS18):c.2508C>T:p.Pro836=	coding	Benign
16	77319881	G	A	G77319881A	ADAMTS18	NM_199355.4(ADAMTS18):c.2500C>T:p.Pro834Ser	coding	Benign
16	77319897	C	T	C77319897T	ADAMTS18	NM_199355.4(ADAMTS18):c.2484G>A:p.Pro828=	coding	Benign
16	77320032	C	T	C77320032T	ADAMTS18	NM_199355.4(ADAMTS18):c.2349G>A:p.Gln783=	coding	Benign
16	77321176	G	A	G77321176A	ADAMTS18	NM_199355.4(ADAMTS18):c.2190C>T:p.Gly730=	coding	Benign
16	77322389	C	A	C77322389A	ADAMTS18	NM_199355.4(ADAMTS18):c.2110G>T:p.Gly704Ter	coding	Pathogenic
16	77322434	C	A	C77322434A	ADAMTS18	NM_199355.4(ADAMTS18):c.2065G>T:p.Glu689Ter	coding	Pathogenic
16	77335835	C	T	C77335835T	ADAMTS18	NM_199355.4(ADAMTS18):c.1780G>A:p.Ala594Thr	coding	Benign
16	77335884	G	C	G77335884C	ADAMTS18	NM_199355.4(ADAMTS18):c.1731C>G:p.Cys577Trp	coding	Pathogenic
16	77341782	A	C	A77341782C	ADAMTS18	NM_199355.4(ADAMTS18):c.1632T>G:p.Leu544=	coding	Benign
16	77367582	G	A	G77367582A	ADAMTS18	NM_199355.4(ADAMTS18):c.637C>T:p.Arg213Trp	coding	Benign
16	77367614	A	G	A77367614G	ADAMTS18	NM_199355.4(ADAMTS18):c.605T>C:p.Leu202Pro	coding	Pathogenic
16	77367618	C	T	C77367618T	ADAMTS18	NM_199355.4(ADAMTS18):c.601G>A:p.Val201Ile	coding	Benign
16	77367648	A	G	A77367648G	ADAMTS18	NM_199355.4(ADAMTS18):c.571T>C:p.Tyr191His	coding	Benign
16	77367657	C	T	C77367657T	ADAMTS18	NM_199355.4(ADAMTS18):c.562G>A:p.Glu188Lys	coding	Benign
16	77431307	C	T	C77431307T	ADAMTS18	NM_199355.4(ADAMTS18):c.483G>A:p.Thr161=	coding	Benign
16	77431574	G	C	G77431574C	ADAMTS18	NM_199355.4(ADAMTS18):c.216C>G:p.Ala72=	coding	Benign
16	77434499	G	A	G77434499A	ADAMTS18	NM_199355.4(ADAMTS18):c.97C>T:p.Gln33Ter	coding	Pathogenic
16	77722604	G	T	G77722604T	NUDT7	NM_001105663.3(NUDT7):c.22G>T:p.Glu8Ter	coding	Benign
16	78099774	C	T	C78099774T	WWOX	NM_016373.4(WWOX):c.-5C>T	noncoding	Benign
16	78099886	G	A	G78099886A	WWOX	NM_016373.4(WWOX):c.107+1G>A	coding	Pathogenic
16	78108252	C	G	C78108252G	WWOX	NM_016373.4(WWOX):c.108-171C>G	noncoding	Benign
16	78108411	G	T	G78108411T	WWOX	NM_016373.4(WWOX):c.108-12G>T	noncoding	Benign
16	78108446	G	A	G78108446A	WWOX	NM_016373.4(WWOX):c.131G>A:p.Trp44Ter	coding	Pathogenic
16	78108447	G	A	G78108447A	WWOX	NM_016373.4(WWOX):c.132G>A:p.Trp44Ter	coding	Pathogenic
16	78108454	C	A	C78108454A	WWOX	NM_016373.4(WWOX):c.139C>A:p.Pro47Thr	coding	Pathogenic
16	78108455	C	G	C78108455G	WWOX	NM_016373.4(WWOX):c.140C>G:p.Pro47Arg	coding	Pathogenic
16	78108475	C	T	C78108475T	WWOX	NM_016373.4(WWOX):c.160C>T:p.Arg54Ter	coding	Pathogenic
16	78108590	C	G	C78108590G	WWOX	NM_016373.4(WWOX):c.172+103C>G	noncoding	Benign
16	78109789	G	T	G78109789T	WWOX	NM_016373.4(WWOX):c.184G>T:p.Gly62Ter	coding	Pathogenic
16	78109819	C	T	C78109819T	WWOX	NM_016373.4(WWOX):c.214C>T:p.Gln72Ter	coding	Pathogenic/Likely_pathogenic
16	78109939	C	T	C78109939T	WWOX	NM_016373.4(WWOX):c.230+104C>T	noncoding	Benign
16	78114743	G	A	G78114743A	WWOX	NM_016373.4(WWOX):c.231-233G>A	noncoding	Benign
16	78114847	T	A	T78114847A	WWOX	NM_016373.4(WWOX):c.231-129T>A	noncoding	Benign
16	78114933	C	T	C78114933T	WWOX	NM_016373.4(WWOX):c.231-43C>T	noncoding	Benign
16	78115000	C	G	C78115000G	WWOX	NM_016373.4(WWOX):c.255C>G:p.Tyr85Ter	coding	Pathogenic
16	78115038	C	T	C78115038T	WWOX	NM_016373.4(WWOX):c.293C>T:p.Pro98Leu	coding	Benign
16	78115096	C	G	C78115096G	WWOX	NM_016373.4(WWOX):c.351C>G:p.Leu117=	coding	Benign
16	78115103	C	T	C78115103T	WWOX	NM_016373.4(WWOX):c.358C>T:p.Arg120Trp	coding	Benign/Likely_benign
16	78115170	A	C	A78115170C	WWOX	NM_016373.4(WWOX):c.409+16A>C	noncoding	Benign
16	78115276	A	C	A78115276C	WWOX	NM_016373.4(WWOX):c.409+122A>C	noncoding	Benign
16	78163887	A	T	A78163887T	WWOX	NM_016373.4(WWOX):c.410-296A>T	noncoding	Benign
16	78163913	C	T	C78163913T	WWOX	NM_016373.4(WWOX):c.410-270C>T	noncoding	Benign
16	78163934	G	A	G78163934A	WWOX	NM_016373.4(WWOX):c.410-249G>A	noncoding	Benign
16	78164014	T	C	T78164014C	WWOX	NM_016373.4(WWOX):c.410-169T>C	noncoding	Benign
16	78164127	A	T	A78164127T	WWOX	NM_016373.4(WWOX):c.410-56A>T	noncoding	Benign
16	78164179	A	T	A78164179T	WWOX	NM_016373.4(WWOX):c.410-4A>T	noncoding	Benign
16	78164182	G	A	G78164182A	WWOX	NM_016373.4(WWOX):c.410-1G>A	noncoding	Pathogenic
16	78164295	T	C	T78164295C	WWOX	NM_016373.4(WWOX):c.516+6T>C	noncoding	Benign
16	78164339	G	A	G78164339A	WWOX	NM_016373.4(WWOX):c.516+50G>A	noncoding	Benign
16	78164605	T	C	T78164605C	WWOX	NM_016373.4(WWOX):c.516+316T>C	noncoding	Benign
16	78278600	C	A	C78278600A	WWOX	NM_016373.4(WWOX):c.517-108260C>A	noncoding	Benign
16	78386564	A	G	A78386564G	WWOX	NM_016373.4(WWOX):c.517-296A>G	noncoding	Benign
16	78386745	G	A	G78386745A	WWOX	NM_016373.4(WWOX):c.517-115G>A	noncoding	Benign
16	78386878	G	A	G78386878A	WWOX	NM_016373.4(WWOX):c.535G>A:p.Ala179Thr	coding	Benign
16	78386890	G	A	G78386890A	WWOX	NM_016373.4(WWOX):c.547G>A:p.Asp183Asn	coding	Benign
16	78386926	G	T	G78386926T	WWOX	NM_016373.4(WWOX):c.583G>T:p.Glu195Ter	coding	Pathogenic/Likely_pathogenic
16	78386985	C	T	C78386985T	WWOX	NM_016373.4(WWOX):c.605+37C>T	noncoding	Benign
16	78387086	G	A	G78387086A	WWOX	NM_016373.4(WWOX):c.605+138G>A	noncoding	Benign
16	78424574	G	C	G78424574C	WWOX	NM_016373.4(WWOX):c.606-296G>C	noncoding	Benign
16	78424587	T	C	T78424587C	WWOX	NM_016373.4(WWOX):c.606-283T>C	noncoding	Benign
16	78424616	C	T	C78424616T	WWOX	NM_016373.4(WWOX):c.606-254C>T	noncoding	Benign
16	78424687	G	A	G78424687A	WWOX	NM_016373.4(WWOX):c.606-183G>A	noncoding	Benign
16	78424720	G	A	G78424720A	WWOX	NM_016373.4(WWOX):c.606-150G>A	noncoding	Benign
16	78424853	G	A	G78424853A	WWOX	NM_016373.4(WWOX):c.606-17G>A	noncoding	Benign
16	78424869	G	A	G78424869A	WWOX	NM_016373.4(WWOX):c.606-1G>A	noncoding	Pathogenic
16	78424877	C	A	C78424877A	WWOX	NM_016373.4(WWOX):c.613C>A:p.His205Asn	coding	Benign/Likely_benign
16	78424882	G	A	G78424882A	WWOX	NM_016373.4(WWOX):c.618G>A:p.Val206=	coding	Benign/Likely_benign
16	78424910	C	G	C78424910G	WWOX	NM_016373.4(WWOX):c.646C>G:p.Leu216Val	coding	Benign
16	78424953	A	C	A78424953C	WWOX	NM_016373.4(WWOX):c.689A>C:p.Gln230Pro	coding	Pathogenic/Likely_pathogenic
16	78425011	C	G	C78425011G	WWOX	NM_016373.4(WWOX):c.747C>G:p.Arg249=	coding	Benign/Likely_benign
16	78425013	C	G	C78425013G	WWOX	NM_016373.4(WWOX):c.749C>G:p.Ser250Ter	coding	Pathogenic/Likely_pathogenic
16	78425018	C	G	C78425018G	WWOX	NM_016373.4(WWOX):c.754C>G:p.Pro252Ala	coding	Benign
16	78425043	C	G	C78425043G	WWOX	NM_016373.4(WWOX):c.779C>G:p.Ser260Ter	coding	Pathogenic
16	78425054	C	T	C78425054T	WWOX	NM_016373.4(WWOX):c.790C>T:p.Arg264Ter	coding	Pathogenic
16	78425258	G	C	G78425258C	WWOX	NM_016373.4(WWOX):c.791+203G>C	noncoding	Benign
16	78425283	T	A	T78425283A	WWOX	NM_016373.4(WWOX):c.791+228T>A	noncoding	Benign
16	78432503	C	T	C78432503T	WWOX	NM_016373.4(WWOX):c.807C>T:p.Asn269=	coding	Benign/Likely_benign
16	78432531	C	T	C78432531T	WWOX	NM_016373.4(WWOX):c.835C>T:p.Arg279Cys	coding	Benign/Likely_benign
16	78432540	C	G	C78432540G	WWOX	NM_016373.4(WWOX):c.844C>G:p.Pro282Ala	coding	Benign
16	78432568	T	C	T78432568C	WWOX	NM_016373.4(WWOX):c.872T>C:p.Leu291Pro	coding	Pathogenic
16	78432572	T	C	T78432572C	WWOX	NM_016373.4(WWOX):c.876T>C:p.Ala292=	coding	Benign
16	78432572	T	G	T78432572G	WWOX	NM_016373.4(WWOX):c.876T>G:p.Ala292=	coding	Benign/Likely_benign
16	78432584	C	G	C78432584G	WWOX	NM_016373.4(WWOX):c.888C>G:p.Ser296=	coding	Benign
16	78432637	G	A	G78432637A	WWOX	NM_016373.4(WWOX):c.941G>A:p.Arg314His	coding	Benign
16	78432701	G	A	G78432701A	WWOX	NM_016373.4(WWOX):c.1005G>A:p.Trp335Ter	coding	Pathogenic
16	78432861	A	C	A78432861C	WWOX	NM_016373.4(WWOX):c.1056+109A>C	noncoding	Benign
16	78624496	T	G	T78624496G	WWOX	NM_016373.4(WWOX):c.1056+191744T>G	noncoding	Benign
16	79211316	C	T	C79211316T	WWOX	NM_016373.4(WWOX):c.1057-292C>T	noncoding	Benign
16	79211342	T	C	T79211342C	WWOX	NM_016373.4(WWOX):c.1057-266T>C	noncoding	Benign
16	79211568	T	C	T79211568C	WWOX	NM_016373.4(WWOX):c.1057-40T>C	noncoding	Benign
16	79211594	T	C	T79211594C	WWOX	NM_016373.4(WWOX):c.1057-14T>C	noncoding	Benign
16	79211665	G	C	G79211665C	WWOX	NM_016373.4(WWOX):c.1114G>C:p.Gly372Arg	coding	Pathogenic
16	79211685	C	T	C79211685T	WWOX	NM_016373.4(WWOX):c.1134C>T:p.Asn378=	coding	Benign/Likely_benign
16	79211692	C	T	C79211692T	WWOX	NM_016373.4(WWOX):c.1141C>T:p.Arg381Cys	coding	Benign/Likely_benign
16	79211748	G	A	G79211748A	WWOX	NM_016373.4(WWOX):c.1197G>A:p.Ala399=	coding	Benign/Likely_benign
16	79211779	G	T	G79211779T	WWOX	NM_016373.4(WWOX):c.1228G>T:p.Gly410Cys	coding	Benign/Likely_benign
16	79211789	C	A	C79211789A	WWOX	NM_016373.4(WWOX):c.1238C>A:p.Ser413Tyr	coding	Benign
16	79211790	C	T	C79211790T	WWOX	NM_016373.4(WWOX):c.1239C>T:p.Ser413=	coding	Benign
16	79211799	G	T	G79211799T	WWOX	NM_016373.4(WWOX):c.*3G>T	noncoding	Benign
16	79598875	G	A	G79598875A	MAF	NM_005360.5(MAF):c.1028C>T:p.Ala343Val	coding	Benign
16	79598995	T	G	T79598995G	MAF	NM_005360.5(MAF):c.908A>C:p.Gln303Pro	coding	Pathogenic
16	79599008	G	T	G79599008T	MAF	NM_005360.5(MAF):c.895C>A:p.Arg299Ser	coding	Pathogenic
16	79599013	T	C	T79599013C	MAF	NM_005360.5(MAF):c.890A>G:p.Lys297Arg	coding	Pathogenic
16	79599022	C	T	C79599022T	MAF	NM_005360.5(MAF):c.881G>A:p.Arg294Gln	coding	Pathogenic
16	79599040	C	G	C79599040G	MAF	NM_005360.5(MAF):c.863G>C:p.Arg288Pro	coding	Pathogenic
16	79599188	C	T	C79599188T	MAF	NM_005360.5(MAF):c.715G>A:p.Ala239Thr	coding	Benign
16	79599292	C	A	C79599292A	MAF	NM_005360.5(MAF):c.611G>T:p.Gly204Val	coding	Benign
16	79599718	G	C	G79599718C	MAF	NM_005360.5(MAF):c.185C>G:p.Thr62Arg	coding	Pathogenic
16	79599727	G	A	G79599727A	MAF	NM_005360.5(MAF):c.176C>T:p.Pro59Leu	coding	Pathogenic
16	79599727	G	T	G79599727T	MAF	NM_005360.5(MAF):c.176C>A:p.Pro59His	coding	Pathogenic
16	79599730	G	A	G79599730A	MAF	NM_005360.5(MAF):c.173C>T:p.Thr58Ile	coding	Pathogenic
16	79599731	T	C	T79599731C	MAF	NM_005360.5(MAF):c.172A>G:p.Thr58Ala	coding	Pathogenic
16	79599742	G	A	G79599742A	MAF	NM_005360.5(MAF):c.161C>T:p.Ser54Leu	coding	Pathogenic
16	80549600	C	T	C80549600T	DYNLRB2	NM_130897.3(DYNLRB2):c.196C>T:p.Leu66=	coding	Benign
16	80612779	C	A	C80612779A	CDYL2	NM_152342.4(CDYL2):c.1065G>T:p.Gly355=	coding	Benign
16	80633070	C	T	C80633070T	CDYL2	NM_152342.4(CDYL2):c.783G>A:p.Thr261=	coding	Benign
16	81087592	A	C	A81087592C	GCSH	NM_004483.4(GCSH):c.292+9T>G	noncoding	Benign
16	81087632	G	C	G81087632C	GCSH	NM_004483.4(GCSH):c.261C>G:p.Leu87=	coding	Benign
16	81087641	A	G	A81087641G	GCSH	NM_004483.4(GCSH):c.252T>C:p.Tyr84=	coding	Benign
16	81090603	G	A	G81090603A	GCSH	NM_004483.5(GCSH):c.226C>T:p.Gln76Ter	coding	Pathogenic
16	81090611	T	C	T81090611C	GCSH	NM_004483.5(GCSH):c.218A>G:p.Asn73Ser	coding	Benign
16	81096189	G	C	G81096189C	GCSH	NM_004483.5(GCSH):c.90C>G:p.Pro30=	coding	Benign
16	81096278	T	C	T81096278C	GCSH	NM_004483.5(GCSH):c.1A>G:p.Met1Val	coding	Pathogenic
16	81264677	C	T	C81264677T	BCO1	NM_017429.3(BCO1):c.509C>T:p.Thr170Met	coding	Pathogenic
16	81290348	G	C	G81290348C	BCO1	NM_017429.3(BCO1):c.1415G>C:p.Gly472Ala	coding	Benign
16	81290521	G	A	G81290521A	BCO1	NM_017429.3(BCO1):c.1588G>A:p.Ala530Thr	coding	Benign
16	81314791	G	T	G81314791T	GAN	NM_022041.3(GAN):c.-323G>T	noncoding	Benign
16	81314879	A	G	A81314879G	GAN	NM_022041.3(GAN):c.-235A>G	noncoding	Benign
16	81315039	G	C	G81315039C	GAN	NM_022041.3(GAN):c.-75G>C	noncoding	Benign
16	81315156	C	A	C81315156A	GAN	NM_022041.3(GAN):c.43C>A:p.Arg15Ser	coding	Pathogenic
16	81315159	C	T	C81315159T	GAN	NM_022041.3(GAN):c.46C>T:p.Leu16=	coding	Benign
16	81315501	T	G	T81315501G	GAN	NM_022041.3(GAN):c.167+221T>G	noncoding	Benign
16	81351535	C	G	C81351535G	GAN	NM_022041.3(GAN):c.168-48C>G	noncoding	Benign
16	81351920	C	T	C81351920T	GAN	NM_022041.3(GAN):c.282+223C>T	noncoding	Benign
16	81354122	A	G	A81354122G	GAN	NM_022041.3(GAN):c.283-283A>G	noncoding	Benign
16	81354554	C	G	C81354554G	GAN	NM_022041.3(GAN):c.432C>G:p.Tyr144Ter	coding	Pathogenic
16	81354627	G	A	G81354627A	GAN	NM_022041.3(GAN):c.505G>A:p.Glu169Lys	coding	Pathogenic
16	81354723	C	T	C81354723T	GAN	NM_022041.3(GAN):c.601C>T:p.Arg201Ter	coding	Pathogenic
16	81354757	T	C	T81354757C	GAN	NM_022041.3(GAN):c.633+2T>C	noncoding	Pathogenic
16	81356957	G	A	G81356957A	GAN	NM_022041.3(GAN):c.806G>A:p.Arg269Gln	coding	Pathogenic
16	81357003	G	A	G81357003A	GAN	NM_022041.3(GAN):c.851+1G>A	coding	Pathogenic/Likely_pathogenic
16	81357835	C	T	C81357835T	GAN	NM_022041.3(GAN):c.877C>T:p.Arg293Ter	coding	Pathogenic
16	81362196	C	T	C81362196T	GAN	NM_022041.3(GAN):c.974-303C>T	noncoding	Benign
16	81362313	A	G	A81362313G	GAN	NM_022041.3(GAN):c.974-186A>G	noncoding	Benign
16	81362537	A	T	A81362537T	GAN	NM_022041.3(GAN):c.1012A>T:p.Lys338Ter	coding	Pathogenic
16	81362682	C	T	C81362682T	GAN	NM_022041.4(GAN):c.1086+71C>T	noncoding	Benign
16	81363889	C	T	C81363889T	GAN	NM_022041.3(GAN):c.1182C>T:p.Tyr394=	coding	Benign/Likely_benign
16	81364199	T	C	T81364199C	GAN	NM_022041.3(GAN):c.1236+256T>C	noncoding	Benign
16	81364713	G	A	G81364713A	GAN	NM_022041.3(GAN):c.1237-261G>A	noncoding	Benign
16	81364915	G	A	G81364915A	GAN	NM_022041.3(GAN):c.1237-59G>A	noncoding	Benign
16	81364976	C	T	C81364976T	GAN	NM_022041.3(GAN):c.1239C>T:p.Ile413=	coding	Benign/Likely_benign
16	81365030	C	T	C81365030T	GAN	NM_022041.3(GAN):c.1293C>T:p.Tyr431=	coding	Benign
16	81365111	G	A	G81365111A	GAN	NM_022041.3(GAN):c.1373+1G>A	coding	Pathogenic
16	81365405	C	T	C81365405T	GAN	NM_022041.3(GAN):c.1429C>T:p.Arg477Ter	coding	Pathogenic
16	81365423	C	T	C81365423T	GAN	NM_022041.3(GAN):c.1447C>T:p.Gln483Ter	coding	Pathogenic
16	81365432	G	A	G81365432A	GAN	NM_022041.3(GAN):c.1456G>A:p.Glu486Lys	coding	Pathogenic
16	81365479	G	T	G81365479T	GAN	NM_022041.3(GAN):c.1502+1G>T	coding	Pathogenic
16	81365700	G	A	G81365700A	GAN	NM_022041.3(GAN):c.1502+222G>A	noncoding	Benign
16	81377341	C	G	C81377341G	GAN	NM_022041.3(GAN):c.1612+13C>G	noncoding	Benign
16	81377530	G	C	G81377530C	GAN	NM_022041.3(GAN):c.1728G>C:p.Ala576=	coding	Benign
16	81377677	T	C	T81377677C	GAN	NM_022041.3(GAN):c.*81T>C	noncoding	Benign
16	81377755	C	T	C81377755T	GAN	NM_022041.3(GAN):c.*159C>T	noncoding	Benign
16	81377823	G	A	G81377823A	GAN	NM_022041.4(GAN):c.*227G>A	noncoding	Benign
16	81377831	T	C	T81377831C	GAN	NM_022041.3(GAN):c.*235T>C	noncoding	Benign
16	81377833	T	A	T81377833A	GAN	NM_022041.4(GAN):c.*237T>A	noncoding	Benign
16	81377843	G	A	G81377843A	GAN	NM_022041.3(GAN):c.*247G>A	noncoding	Benign
16	81377890	A	G	A81377890G	GAN	NM_022041.3(GAN):c.*294A>G	noncoding	Benign
16	81377968	G	A	G81377968A	GAN	NM_022041.3(GAN):c.*372G>A	noncoding	Benign
16	81378068	C	G	C81378068G	GAN	NM_022041.3(GAN):c.*472C>G	noncoding	Benign
16	81378188	T	A	T81378188A	GAN	NM_022041.3(GAN):c.*592T>A	noncoding	Benign
16	81378360	G	A	G81378360A	GAN	NM_022041.3(GAN):c.*764G>A	noncoding	Benign
16	81378563	G	A	G81378563A	GAN	NM_022041.3(GAN):c.*967G>A	noncoding	Benign
16	81378664	T	G	T81378664G	GAN	NM_022041.3(GAN):c.*1068T>G	noncoding	Benign
16	81378709	G	A	G81378709A	GAN	NM_022041.4(GAN):c.*1113G>A	noncoding	Benign
16	81378846	T	G	T81378846G	GAN	NM_022041.3(GAN):c.*1250T>G	noncoding	Benign
16	81378869	G	C	G81378869C	GAN	NM_022041.3(GAN):c.*1273G>C	noncoding	Benign
16	81378984	A	G	A81378984G	GAN	NM_022041.3(GAN):c.*1388A>G	noncoding	Benign
16	81379254	T	G	T81379254G	GAN	NM_022041.3(GAN):c.*1658T>G	noncoding	Benign
16	81379413	G	C	G81379413C	GAN	NM_022041.3(GAN):c.*1817G>C	noncoding	Benign
16	81379504	A	C	A81379504C	GAN	NM_022041.3(GAN):c.*1908A>C	noncoding	Benign
16	81379784	T	C	T81379784C	GAN	NM_022041.3(GAN):c.*2188T>C	noncoding	Benign
16	81379918	T	G	T81379918G	GAN	NM_022041.3(GAN):c.*2322T>G	noncoding	Benign
16	81380094	T	G	T81380094G	GAN	NM_022041.3(GAN):c.*2498T>G	noncoding	Benign
16	81607621	C	T	C81607621T	CMIP	NM_198390.2(CMIP):c.355C>T:p.Leu119=	coding	Benign
16	81670201	C	T	C81670201T	CMIP	NM_198390.2(CMIP):c.885C>T:p.Asn295=	coding	Benign
16	81670255	C	T	C81670255T	CMIP	NM_198390.2(CMIP):c.929+10C>T	noncoding	Benign
16	81678482	G	A	G81678482A	CMIP	NM_198390.2(CMIP):c.1242G>A:p.Pro414=	coding	Benign
16	81678608	C	T	C81678608T	CMIP	NM_198390.2(CMIP):c.1368C>T:p.Tyr456=	coding	Benign
16	81678638	C	A	C81678638A	CMIP	NM_198390.2(CMIP):c.1388+10C>A	noncoding	Benign
16	81691771	C	G	C81691771G	CMIP	NM_198390.2(CMIP):c.1389-4C>G	noncoding	Benign
16	81696580	C	T	C81696580T	CMIP	NM_198390.2(CMIP):c.1551C>T:p.Ser517=	coding	Benign
16	81696671	C	A	C81696671A	CMIP	NM_198390.2(CMIP):c.1638+4C>A	noncoding	Benign
16	81699687	G	A	G81699687A	CMIP	NM_198390.2(CMIP):c.1641G>A:p.Val547=	coding	Benign
16	81705513	C	A	C81705513A	CMIP	NM_198390.2(CMIP):c.2106C>A:p.Gly702=	coding	Benign
16	81709736	C	T	C81709736T	CMIP	NM_198390.2(CMIP):c.2269-10C>T	noncoding	Benign
16	81786046	G	A	G81786046A	PLCG2	NM_002661.5(PLCG2):c.57G>A:p.Lys19=	coding	Benign
16	81786071	A	T	A81786071T	PLCG2	NM_002661.5(PLCG2):c.82A>T:p.Met28Leu	coding	Benign
16	81786163	T	C	T81786163C	PLCG2	NM_002661.5(PLCG2):c.174T>C:p.Ala58=	coding	Benign
16	81854547	A	G	A81854547G	PLCG2	NM_002661.5(PLCG2):c.297A>G:p.Leu99=	coding	Benign
16	81854574	G	C	G81854574C	PLCG2	NM_002661.5(PLCG2):c.324G>C:p.Thr108=	coding	Benign
16	81859103	T	A	T81859103A	PLCG2	NM_002661.5(PLCG2):c.432-13T>A	noncoding	Benign
16	81869267	G	A	G81869267A	PLCG2	NM_002661.5(PLCG2):c.533G>A:p.Ser178Asn	coding	Benign
16	81869274	C	G	C81869274G	PLCG2	NM_002661.5(PLCG2):c.540C>G:p.Ala180=	coding	Benign
16	81870842	A	G	A81870842G	PLCG2	NM_002661.5(PLCG2):c.565-10A>G	noncoding	Benign
16	81870864	C	G	C81870864G	PLCG2	NM_002661.5(PLCG2):c.577C>G:p.His193Asp	coding	Benign
16	81870866	C	G	C81870866G	PLCG2	NM_002661.5(PLCG2):c.579C>G:p.His193Gln	coding	Benign
16	81870887	A	G	A81870887G	PLCG2	NM_002661.5(PLCG2):c.600A>G:p.Glu200=	coding	Benign
16	81883290	C	T	C81883290T	PLCG2	NM_002661.5(PLCG2):c.714C>T:p.Ala238=	coding	Benign/Likely_benign
16	81883307	A	G	A81883307G	PLCG2	NM_002661.5(PLCG2):c.731A>G:p.His244Arg	coding	Benign
16	81889176	A	T	A81889176T	PLCG2	NM_002661.5(PLCG2):c.770A>T:p.His257Leu	coding	Benign
16	81889177	T	C	T81889177C	PLCG2	NM_002661.5(PLCG2):c.771T>C:p.His257=	coding	Benign
16	81889208	C	T	C81889208T	PLCG2	NM_002661.5(PLCG2):c.802C>T:p.Arg268Trp	coding	Benign
16	81893709	G	A	G81893709A	PLCG2	NM_002661.5(PLCG2):c.987G>A:p.Thr329=	coding	Benign
16	81893772	C	A	C81893772A	PLCG2	NM_002661.5(PLCG2):c.1050C>A:p.Arg350=	coding	Benign
16	81895799	C	G	C81895799G	PLCG2	NM_002661.5(PLCG2):c.1073-8C>G	noncoding	Benign
16	81895841	C	T	C81895841T	PLCG2	NM_002661.5(PLCG2):c.1107C>T:p.Val369=	coding	Benign
16	81895880	T	C	T81895880C	PLCG2	NM_002661.5(PLCG2):c.1146T>C:p.Phe382=	coding	Benign
16	81895883	C	T	C81895883T	PLCG2	NM_002661.5(PLCG2):c.1149C>T:p.Asp383=	coding	Benign
16	81895886	C	T	C81895886T	PLCG2	NM_002661.5(PLCG2):c.1152C>T:p.Asp384=	coding	Benign
16	81895922	C	G	C81895922G	PLCG2	NM_002661.5(PLCG2):c.1188C>G:p.Thr396=	coding	Benign
16	81900676	G	A	G81900676A	PLCG2	NM_002661.5(PLCG2):c.1258G>A:p.Ala420Thr	coding	Benign
16	81905423	A	G	A81905423G	PLCG2	NM_002661.5(PLCG2):c.1383A>G:p.Arg461=	coding	Benign/Likely_benign
16	81905426	C	G	C81905426G	PLCG2	NM_002661.5(PLCG2):c.1386C>G:p.Gly462=	coding	Benign
16	81905484	T	C	T81905484C	PLCG2	NM_002661.5(PLCG2):c.1444T>C:p.Tyr482His	coding	Benign
16	81907714	C	T	C81907714T	PLCG2	NM_002661.5(PLCG2):c.1497C>T:p.Ala499=	coding	Benign
16	81907750	G	C	G81907750C	PLCG2	NM_002661.5(PLCG2):c.1533G>C:p.Gln511His	coding	Benign
16	81907780	G	C	G81907780C	PLCG2	NM_002661.5(PLCG2):c.1557+6G>C	noncoding	Benign
16	81908398	C	T	C81908398T	PLCG2	NM_002661.5(PLCG2):c.1558-18C>T	noncoding	Benign
16	81908423	C	G	C81908423G	PLCG2	NM_002661.5(PLCG2):c.1565C>G:p.Pro522Arg	coding	Benign/Likely_benign
16	81908427	T	A	T81908427A	PLCG2	NM_002661.5(PLCG2):c.1569T>A:p.Pro523=	coding	Benign/Likely_benign
16	81908529	G	A	G81908529A	PLCG2	NM_002661.5(PLCG2):c.1671G>A:p.Lys557=	coding	Benign
16	81908570	A	G	A81908570G	PLCG2	NM_002661.5(PLCG2):c.1712A>G:p.Asn571Ser	coding	Benign
16	81910598	C	T	C81910598T	PLCG2	NM_002661.5(PLCG2):c.1812C>T:p.Asn604=	coding	Benign
16	81910645	C	T	C81910645T	PLCG2	NM_002661.5(PLCG2):c.1859C>T:p.Thr620Met	coding	Benign
16	81912621	C	T	C81912621T	PLCG2	NM_002661.5(PLCG2):c.1959C>T:p.Arg653=	coding	Benign
16	81912673	A	G	A81912673G	PLCG2	NM_002661.5(PLCG2):c.2011A>G:p.Ile671Val	coding	Benign
16	81912723	G	A	G81912723A	PLCG2	NM_002661.5(PLCG2):c.2054+7G>A	noncoding	Benign
16	81919523	C	T	C81919523T	PLCG2	NM_002661.5(PLCG2):c.2094C>T:p.Asp698=	coding	Benign
16	81919549	C	A	C81919549A	PLCG2	NM_002661.5(PLCG2):c.2120C>A:p.Ser707Tyr	coding	Pathogenic
16	81919577	C	T	C81919577T	PLCG2	NM_002661.5(PLCG2):c.2148C>T:p.Leu716=	coding	Benign
16	81919590	G	A	G81919590A	PLCG2	NM_002661.5(PLCG2):c.2161G>A:p.Glu721Lys	coding	Benign
16	81921184	C	G	C81921184G	PLCG2	NM_002661.5(PLCG2):c.2236-14C>G	noncoding	Benign
16	81921221	C	T	C81921221T	PLCG2	NM_002661.5(PLCG2):c.2259C>T:p.Tyr753=	coding	Benign
16	81921224	C	T	C81921224T	PLCG2	NM_002661.5(PLCG2):c.2262C>T:p.Asp754=	coding	Benign
16	81923532	C	T	C81923532T	PLCG2	NM_002661.5(PLCG2):c.2355C>T:p.Ser785=	coding	Benign
16	81927142	C	T	C81927142T	PLCG2	NM_002661.5(PLCG2):c.2478C>T:p.Asp826=	coding	Benign
16	81927178	G	A	G81927178A	PLCG2	NM_002661.5(PLCG2):c.2514G>A:p.Gln838=	coding	Benign
16	81928585	C	T	C81928585T	PLCG2	NM_002661.5(PLCG2):c.2542C>T:p.Leu848Phe	coding	Benign/Likely_benign
16	81931570	G	A	G81931570A	PLCG2	NM_002661.5(PLCG2):c.2655G>A:p.Pro885=	coding	Benign
16	81931662	C	A	C81931662A	PLCG2	NM_002661.5(PLCG2):c.2739+8C>A	noncoding	Benign
16	81934467	C	T	C81934467T	PLCG2	NM_002661.5(PLCG2):c.2778C>T:p.Ile926=	coding	Benign
16	81934526	A	G	A81934526G	PLCG2	NM_002661.5(PLCG2):c.2837A>G:p.Asn946Ser	coding	Benign
16	81936242	C	T	C81936242T	PLCG2	NM_002661.5(PLCG2):c.2916C>T:p.Val972=	coding	Benign
16	81937798	T	C	T81937798C	PLCG2	NM_002661.5(PLCG2):c.3093T>C:p.Asn1031=	coding	Benign
16	81937817	C	T	C81937817T	PLCG2	NM_002661.5(PLCG2):c.3112C>T:p.Leu1038=	coding	Benign
16	81937830	G	C	G81937830C	PLCG2	NM_002661.5(PLCG2):c.3125G>C:p.Ser1042Thr	coding	Benign
16	81939992	A	G	A81939992G	PLCG2	NM_002661.5(PLCG2):c.3414A>G:p.Glu1138=	coding	Benign
16	81946172	C	T	C81946172T	PLCG2	NM_002661.5(PLCG2):c.3482-3C>T	noncoding	Benign
16	81956697	G	A	G81956697A	PLCG2	NM_002661.5(PLCG2):c.3573G>A:p.Glu1191=	coding	Benign
16	81956850	C	A	C81956850A	PLCG2	NM_002661.5(PLCG2):c.3726C>A:p.Leu1242=	coding	Benign
16	82068265	G	A	G82068265A	HSD17B2	NM_002153.3(HSD17B2):c.361G>A:p.Ala121Thr	coding	Benign
16	82068294	G	A	G82068294A	HSD17B2	NM_002153.3(HSD17B2):c.390G>A:p.Pro130=	coding	Benign
16	82070997	G	A	G82070997A	HSD17B2	NM_002153.3(HSD17B2):c.534G>A:p.Glu178=	coding	Benign
16	82090913	A	G	A82090913G	HSD17B2	NM_002153.3(HSD17B2):c.676A>G:p.Met226Val	coding	Benign
16	82090956	C	G	C82090956G	HSD17B2	NM_002153.3(HSD17B2):c.719C>G:p.Thr240Ser	coding	Benign
16	82098197	T	C	T82098197C	HSD17B2	NM_002153.3(HSD17B2):c.925T>C:p.Leu309=	coding	Benign
16	82098208	G	A	G82098208A	HSD17B2	NM_002153.3(HSD17B2):c.936G>A:p.Ser312=	coding	Benign
16	82148813	T	C	T82148813C	MPHOSPH6	NM_005792.2(MPHOSPH6):c.401A>G:p.Asp134Gly	coding	Benign
16	82149368	T	C	T82149368C	MPHOSPH6	NM_005792.2(MPHOSPH6):c.291A>G:p.Ala97=	coding	Benign
16	82639442	C	T	C82639442T	CDH13	NM_001257.5(CDH13):c.45+12305C>T	coding	Benign
16	82639485	T	G	T82639485G	CDH13	NM_001257.5(CDH13):c.45+12348T>G	noncoding	Benign
16	82858432	A	G	A82858432G	CDH13	NM_001257.5(CDH13):c.116A>G:p.Asn39Ser	coding	Benign
16	83032059	G	A	G83032059A	CDH13	NM_001257.5(CDH13):c.207G>A:p.Ser69=	coding	Benign
16	83344882	T	C	T83344882C	CDH13	NM_001257.5(CDH13):c.657T>C:p.Asp219=	coding	Benign
16	83486473	G	A	G83486473A	CDH13	NM_001257.5(CDH13):c.782-4G>A	noncoding	Benign
16	83486559	G	A	G83486559A	CDH13	NM_001257.5(CDH13):c.864G>A:p.Gln288=	coding	Benign
16	83602444	T	C	T83602444C	CDH13	NM_001257.5(CDH13):c.961-10T>C	noncoding	Benign
16	83670784	T	C	T83670784C	CDH13	NM_001257.5(CDH13):c.1102-6T>C	noncoding	Benign
16	83670814	G	A	G83670814A	CDH13	NM_001257.5(CDH13):c.1126G>A:p.Ala376Thr	coding	Benign/Likely_benign
16	83678282	C	T	C83678282T	CDH13	NM_001257.5(CDH13):c.1359C>T:p.Asp453=	coding	Benign
16	83678339	C	T	C83678339T	CDH13	NM_001257.5(CDH13):c.1416C>T:p.Asn472=	coding	Benign
16	83783267	G	A	G83783267A	CDH13	NM_001257.5(CDH13):c.1929G>A:p.Leu643=	coding	Benign
16	83783282	A	G	A83783282G	CDH13	NM_001257.5(CDH13):c.1944A>G:p.Gln648=	coding	Benign
16	83783414	A	G	A83783414G	CDH13	NM_001257.5(CDH13):c.2076A>G:p.Ala692=	coding	Benign
16	83899138	G	A	G83899138A	MLYCD	NM_012213.3(MLYCD):c.-7G>A	noncoding	Benign/Likely_benign
16	83899175	A	G	A83899175G	MLYCD	NM_012213.3(MLYCD):c.31A>G:p.Arg11Gly	coding	Benign
16	83899263	T	C	T83899263C	MLYCD	NM_012213.3(MLYCD):c.119T>C:p.Met40Thr	coding	Pathogenic
16	83899350	C	T	C83899350T	MLYCD	NM_012213.3(MLYCD):c.206C>T:p.Ala69Val	coding	Benign/Likely_benign
16	83899411	C	T	C83899411T	MLYCD	NM_012213.3(MLYCD):c.267C>T:p.Gly89=	coding	Benign
16	83899519	C	G	C83899519G	MLYCD	NM_012213.3(MLYCD):c.375C>G:p.Ala125=	coding	Benign/Likely_benign
16	83899552	C	G	C83899552G	MLYCD	NM_012213.3(MLYCD):c.408C>G:p.Arg136=	coding	Benign/Likely_benign
16	83899588	C	T	C83899588T	MLYCD	NM_012213.3(MLYCD):c.444C>T:p.Asp148=	coding	Benign
16	83899691	T	C	T83899691C	MLYCD	NM_012213.3(MLYCD):c.528+19T>C	noncoding	Benign
16	83906979	C	T	C83906979T	MLYCD	NM_012213.3(MLYCD):c.529-8C>T	noncoding	Benign
16	83906999	G	A	G83906999A	MLYCD	NM_012213.3(MLYCD):c.541G>A:p.Val181Met	coding	Benign
16	83907018	C	G	C83907018G	MLYCD	NM_012213.3(MLYCD):c.560C>G:p.Ser187Ter	coding	Pathogenic
16	83908114	A	T	A83908114T	MLYCD	NM_012213.3(MLYCD):c.642-12A>T	noncoding	Benign
16	83908121	C	T	C83908121T	MLYCD	NM_012213.3(MLYCD):c.642-5C>T	noncoding	Benign
16	83908216	G	A	G83908216A	MLYCD	NM_012213.3(MLYCD):c.732G>A:p.Ser244=	coding	Benign
16	83908260	G	C	G83908260C	MLYCD	NM_012213.3(MLYCD):c.776G>C:p.Gly259Ala	coding	Benign/Likely_benign
16	83912269	A	G	A83912269G	MLYCD	NM_012213.3(MLYCD):c.850A>G:p.Thr284Ala	coding	Benign
16	83912344	A	C	A83912344C	MLYCD	NM_012213.3(MLYCD):c.925A>C:p.Lys309Gln	coding	Benign
16	83912365	C	T	C83912365T	MLYCD	NM_012213.3(MLYCD):c.946C>T:p.Gln316Ter	coding	Pathogenic
16	83914942	A	G	A83914942G	MLYCD	NM_012213.3(MLYCD):c.949-14A>G	noncoding	Pathogenic
16	83915210	G	A	G83915210A	MLYCD	NM_012213.3(MLYCD):c.1203G>A:p.Leu401=	coding	Benign
16	83915471	A	G	A83915471G	MLYCD	NM_012213.3(MLYCD):c.1464A>G:p.Gln488=	coding	Benign/Likely_benign
16	83915516	C	T	C83915516T	MLYCD	NM_012213.3(MLYCD):c.*27C>T	noncoding	Benign
16	83915743	C	G	C83915743G	MLYCD	NM_012213.3(MLYCD):c.*254C>G	noncoding	Benign
16	83915901	T	C	T83915901C	MLYCD	NM_012213.3(MLYCD):c.*412T>C	noncoding	Benign
16	83915949	A	C	A83915949C	MLYCD	NM_012213.3(MLYCD):c.*460A>C	noncoding	Benign
16	83916107	G	C	G83916107C	MLYCD	NM_012213.3(MLYCD):c.*618G>C	noncoding	Benign
16	83916160	C	T	C83916160T	MLYCD	NM_012213.3(MLYCD):c.*671C>T	noncoding	Benign
16	83957708	A	C	A83957708C	OSGIN1	NM_182981.3(OSGIN1):c.37A>C:p.Ser13Arg	coding	Benign
16	83965089	C	T	C83965089T	OSGIN1	NM_182981.3(OSGIN1):c.516C>T:p.Ala172=	coding	Benign
16	83965113	G	A	G83965113A	OSGIN1	NM_182981.3(OSGIN1):c.540G>A:p.Arg180=	coding	Benign
16	84009812	G	A	G84009812A	SLC38A8	NM_001080442.2(SLC38A8):c.1280C>T:p.Thr427Met	coding	Benign
16	84009858	C	T	C84009858T	SLC38A8	NM_001080442.2(SLC38A8):c.1234G>A:p.Gly412Arg	coding	Pathogenic
16	84016568	G	A	G84016568A	SLC38A8	NM_001080442.2(SLC38A8):c.1113C>T:p.Ile371=	coding	Benign
16	84016607	C	T	C84016607T	SLC38A8	NM_001080442.2(SLC38A8):c.1074G>A:p.Thr358=	coding	Benign
16	84016654	C	G	C84016654G	SLC38A8	NM_001080442.2(SLC38A8):c.1027G>C:p.Gly343Arg	coding	Benign
16	84016720	T	A	T84016720A	SLC38A8	NM_001080442.2(SLC38A8):c.961A>T:p.Met321Leu	coding	Benign
16	84016721	C	T	C84016721T	SLC38A8	NM_001080442.2(SLC38A8):c.960G>A:p.Val320=	coding	Benign
16	84022873	A	T	A84022873T	SLC38A8	NM_001080442.2(SLC38A8):c.707T>A:p.Val236Asp	coding	Pathogenic
16	84022883	C	T	C84022883T	SLC38A8	NM_001080442.2(SLC38A8):c.697G>A:p.Glu233Lys	coding	Pathogenic
16	84031901	G	A	G84031901A	SLC38A8	NM_001080442.2(SLC38A8):c.598C>T:p.Gln200Ter	coding	Pathogenic
16	84033348	G	T	G84033348T	SLC38A8	NM_001080442.2(SLC38A8):c.510C>A:p.Ile170=	coding	Benign
16	84033413	G	A	G84033413A	SLC38A8	NM_001080442.3(SLC38A8):c.445C>T:p.Gln149Ter	coding	Pathogenic
16	84036898	G	T	G84036898T	SLC38A8	NM_001080442.2(SLC38A8):c.192C>A:p.Val64=	coding	Benign
16	84036908	G	A	G84036908A	SLC38A8	NM_001080442.2(SLC38A8):c.190-8C>T	noncoding	Benign
16	84036909	A	C	A84036909C	SLC38A8	NM_001080442.2(SLC38A8):c.190-9T>G	noncoding	Benign
16	84041958	C	A	C84041958A	SLC38A8	NM_001080442.2(SLC38A8):c.189+11G>T	noncoding	Benign
16	84041969	C	T	C84041969T	SLC38A8	NM_001080442.2(SLC38A8):c.189G>A:p.Leu63=	coding	Benign
16	84041999	G	A	G84041999A	SLC38A8	NM_001080442.2(SLC38A8):c.159C>T:p.Gly53=	coding	Benign
16	84042063	A	C	A84042063C	SLC38A8	NM_001080442.2(SLC38A8):c.95T>G:p.Ile32Ser	coding	Pathogenic
16	84056017	C	T	C84056017T	MBTPS1	NM_003791.4(MBTPS1):c.2950G>A:p.Asp984Asn	coding	Benign
16	84056019	C	T	C84056019T	MBTPS1	NM_003791.4(MBTPS1):c.2948G>A:p.Trp983Ter	coding	Pathogenic
16	84059437	A	T	A84059437T	MBTPS1	NM_003791.4(MBTPS1):c.2705-9T>A	noncoding	Benign
16	84068415	G	C	G84068415C	MBTPS1	NM_003791.4(MBTPS1):c.1995C>G:p.Tyr665Ter	coding	Pathogenic
16	84087398	T	C	T84087398C	MBTPS1	NM_003791.4(MBTPS1):c.1094A>G:p.Asp365Gly	coding	Pathogenic
16	84095794	C	T	C84095794T	MBTPS1	NM_003791.4(MBTPS1):c.433G>A:p.Val145Ile	coding	Benign
16	84101623	T	C	T84101623C	MBTPS1	NM_003791.4(MBTPS1):c.161A>G:p.Tyr54Cys	coding	Benign
16	84145375	T	C	T84145375C	DNAAF1	NM_178452.6(DNAAF1):c.-66T>C	noncoding	Benign
16	84145552	G	A	G84145552A	DNAAF1	NM_178452.6(DNAAF1):c.112G>A:p.Gly38Ser	coding	Benign
16	84149072	C	T	C84149072T	DNAAF1	NM_178452.6(DNAAF1):c.190C>T:p.Gln64Ter	coding	Pathogenic
16	84149110	C	T	C84149110T	DNAAF1	NM_178452.6(DNAAF1):c.228C>T:p.His76=	coding	Benign/Likely_benign
16	84150359	G	C	G84150359C	DNAAF1	NM_178452.6(DNAAF1):c.352+17G>C	noncoding	Benign
16	84150372	G	A	G84150372A	DNAAF1	NM_178452.6(DNAAF1):c.352+30G>A	noncoding	Benign
16	84154585	C	T	C84154585T	DNAAF1	NM_178452.6(DNAAF1):c.361C>T:p.Arg121Cys	coding	Benign/Likely_benign
16	84154748	T	G	T84154748G	DNAAF1	NM_178452.6(DNAAF1):c.524T>G:p.Leu175Arg	coding	Pathogenic
16	84154825	C	G	C84154825G	DNAAF1	NM_178452.6(DNAAF1):c.574+27C>G	noncoding	Benign
16	84155693	C	T	C84155693T	DNAAF1	NM_178452.6(DNAAF1):c.685C>T:p.His229Tyr	coding	Benign/Likely_benign
16	84155744	G	A	G84155744A	DNAAF1	NM_178452.6(DNAAF1):c.736G>A:p.Asp246Asn	coding	Benign/Likely_benign
16	84159713	G	C	G84159713C	DNAAF1	NM_178452.6(DNAAF1):c.780G>C:p.Gln260His	coding	Benign
16	84159725	C	A	C84159725A	DNAAF1	NM_178452.6(DNAAF1):c.792C>A:p.Tyr264Ter	coding	Pathogenic
16	84159744	C	T	C84159744T	DNAAF1	NM_178452.6(DNAAF1):c.811C>T:p.Arg271Ter	coding	Pathogenic
16	84165838	C	G	C84165838G	DNAAF1	NM_178452.6(DNAAF1):c.919C>G:p.Gln307Glu	coding	Benign
16	84165907	C	A	C84165907A	DNAAF1	NM_178452.6(DNAAF1):c.988C>A:p.Arg330=	coding	Benign
16	84169905	G	A	G84169905A	DNAAF1	NM_178452.6(DNAAF1):c.1077G>A:p.Ala359=	coding	Benign
16	84169989	C	G	C84169989G	DNAAF1	NM_178452.6(DNAAF1):c.1161C>G:p.Asp387Glu	coding	Benign
16	84170006	A	G	A84170006G	DNAAF1	NM_178452.6(DNAAF1):c.1178A>G:p.Lys393Arg	coding	Benign
16	84170124	G	C	G84170124C	DNAAF1	NM_178452.6(DNAAF1):c.1296G>C:p.Glu432Asp	coding	Benign
16	84170131	G	A	G84170131A	DNAAF1	NM_178452.6(DNAAF1):c.1303G>A:p.Asp435Asn	coding	Benign/Likely_benign
16	84170333	C	T	C84170333T	DNAAF1	NM_178452.6(DNAAF1):c.1505C>T:p.Pro502Leu	coding	Benign
16	84172347	T	C	T84172347C	DNAAF1	NM_178452.6(DNAAF1):c.1616T>C:p.Leu539Pro	coding	Benign/Likely_benign
16	84174667	A	C	A84174667C	DNAAF1	NM_178452.6(DNAAF1):c.1645-2A>C	noncoding	Pathogenic
16	84174729	G	T	G84174729T	DNAAF1	NM_178452.6(DNAAF1):c.1698+7G>T	noncoding	Benign
16	84175892	T	C	T84175892C	DNAAF1	NM_178452.6(DNAAF1):c.1699-41T>C	noncoding	Benign
16	84175984	G	A	G84175984A	DNAAF1	NM_178452.6(DNAAF1):c.1750G>A:p.Asp584Asn	coding	Benign/Likely_benign
16	84176003	C	T	C84176003T	DNAAF1	NM_178452.6(DNAAF1):c.1769C>T:p.Thr590Met	coding	Benign
16	84176028	C	G	C84176028G	DNAAF1	NM_178452.6(DNAAF1):c.1794C>G:p.Leu598=	coding	Benign
16	84176054	T	C	T84176054C	DNAAF1	NM_178452.6(DNAAF1):c.1820T>C:p.Phe607Ser	coding	Benign
16	84176082	G	A	G84176082A	DNAAF1	NM_178452.6(DNAAF1):c.1848G>A:p.Ala616=	coding	Benign
16	84176110	A	T	A84176110T	DNAAF1	NM_178452.6(DNAAF1):c.1876A>T:p.Lys626Ter	coding	Pathogenic
16	84176132	T	C	T84176132C	DNAAF1	NM_178452.6(DNAAF1):c.1898T>C:p.Leu633Ser	coding	Benign
16	84176140	C	T	C84176140T	DNAAF1	NM_178452.6(DNAAF1):c.1906C>T:p.Arg636Ter	coding	Pathogenic
16	84176209	C	G	C84176209G	DNAAF1	NM_178452.6(DNAAF1):c.1975C>G:p.Leu659Val	coding	Benign
16	84176210	T	C	T84176210C	DNAAF1	NM_178452.6(DNAAF1):c.1976T>C:p.Leu659Pro	coding	Benign
16	84176258	G	C	G84176258C	DNAAF1	NM_178452.6(DNAAF1):c.2024G>C:p.Ser675Thr	coding	Benign
16	84177770	G	A	G84177770A	DNAAF1	NM_178452.6(DNAAF1):c.2107G>A:p.Gly703Arg	coding	Benign/Likely_benign
16	84177772	A	G	A84177772G	DNAAF1	NM_178452.6(DNAAF1):c.2109A>G:p.Gly703=	coding	Benign
16	84177797	C	G	C84177797G	DNAAF1	NM_178452.6(DNAAF1):c.2134C>G:p.Pro712Ala	coding	Benign/Likely_benign
16	84177859	T	C	T84177859C	DNAAF1	NM_178452.6(DNAAF1):c.*18T>C	noncoding	Benign
16	84177877	C	T	C84177877T	DNAAF1	NM_178452.6(DNAAF1):c.*36C>T	noncoding	Benign
16	84179769	G	C	G84179769C	TAF1C	NM_001243156.2(TAF1C):c.1704C>G:p.Val568=	coding	Benign
16	84179828	A	T	A84179828T	DNAAF1	NM_001243156.2(TAF1C):c.1645T>A:p.Leu549Met	coding	Benign
16	84182389	C	T	C84182389T	TAF1C	NM_001243156.2(TAF1C):c.534G>A:p.Gly178=	coding	Benign
16	84222328	T	C	T84222328C	KCNG4	NM_172347.2(KCNG4):c.1449A>G:p.Pro483=	coding	Benign
16	84222522	C	T	C84222522T	KCNG4	NM_172347.2(KCNG4):c.1255G>A:p.Val419Met	coding	Benign
16	84222619	G	A	G84222619A	KCNG4	NM_172347.2(KCNG4):c.1158C>T:p.Ser386=	coding	Benign
16	84222844	C	T	C84222844T	KCNG4	NM_172347.2(KCNG4):c.933G>A:p.Ala311=	coding	Benign
16	84237044	C	T	C84237044T	KCNG4	NM_172347.2(KCNG4):c.442G>A:p.Ala148Thr	coding	Benign
16	84318346	G	A	G84318346A	WFDC1	NM_021197.4(WFDC1):c.412G>A:p.Val138Met	coding	Benign
16	84319550	G	A	G84319550A	WFDC1	NM_021197.4(WFDC1):c.541G>A:p.Val181Ile	coding	Benign
16	84324442	C	G	C84324442G	WFDC1	NM_021197.4(WFDC1):c.586C>G:p.Leu196Val	coding	Benign
16	84408489	G	A	G84408489A	ATP2C2	NM_014861.3(ATP2C2):c.412G>A:p.Ala138Thr	coding	Benign
16	84422532	G	A	G84422532A	ATP2C2	NM_014861.3(ATP2C2):c.767G>A:p.Arg256Lys	coding	Benign
16	84425770	C	G	C84425770G	ATP2C2	NM_014861.3(ATP2C2):c.955C>G:p.Gln319Glu	coding	Benign
16	84439159	G	A	G84439159A	ATP2C2	NM_014861.3(ATP2C2):c.987-7G>A	noncoding	Benign
16	84439169	G	T	G84439169T	ATP2C2	NM_014861.3(ATP2C2):c.990G>T:p.Leu330=	coding	Benign
16	84439181	C	T	C84439181T	ATP2C2	NM_014861.3(ATP2C2):c.1002C>T:p.Ala334=	coding	Benign
16	84452063	G	A	G84452063A	ATP2C2	NM_014861.3(ATP2C2):c.1803G>A:p.Gly601=	coding	Benign
16	84454821	C	T	C84454821T	ATP2C2	NM_014861.3(ATP2C2):c.1984C>T:p.Leu662=	coding	Benign
16	84454838	G	A	G84454838A	ATP2C2	NM_014861.3(ATP2C2):c.2001G>A:p.Ala667=	coding	Benign
16	84459111	C	G	C84459111G	ATP2C2	NM_014861.3(ATP2C2):c.2148-9C>G	noncoding	Benign
16	84459279	C	T	C84459279T	ATP2C2	NM_014861.3(ATP2C2):c.2226C>T:p.Ser742=	coding	Benign
16	84459285	G	A	G84459285A	ATP2C2	NM_014861.3(ATP2C2):c.2232G>A:p.Leu744=	coding	Benign
16	84459372	G	T	G84459372T	ATP2C2	NM_014861.3(ATP2C2):c.2319G>T:p.Gly773=	coding	Benign
16	84459395	G	T	G84459395T	ATP2C2	NM_014861.3(ATP2C2):c.2333+9G>T	noncoding	Benign
16	84460709	C	T	C84460709T	ATP2C2	NM_014861.3(ATP2C2):c.2389C>T:p.Arg797Trp	coding	Benign
16	84460808	G	T	G84460808T	ATP2C2	NM_014861.3(ATP2C2):c.2481+7G>T	noncoding	Benign
16	84461712	A	C	A84461712C	ATP2C2	NM_014861.3(ATP2C2):c.2482-2A>C	noncoding	Benign
16	84462089	G	A	G84462089A	ATP2C2	NM_014861.3(ATP2C2):c.2682G>A:p.Pro894=	coding	Benign
16	84462098	G	C	G84462098C	ATP2C2	NM_014861.3(ATP2C2):c.2691G>C:p.Arg897Ser	coding	Benign
16	84462127	T	C	T84462127C	ATP2C2	NM_014861.3(ATP2C2):c.2720T>C:p.Leu907Pro	coding	Benign
16	84463704	G	C	G84463704C	ATP2C2	NM_014861.3(ATP2C2):c.2813G>C:p.Arg938Thr	coding	Benign
16	84479983	T	C	T84479983C	MEAK7	NM_020947.4(MEAK7):c.1301A>G:p.Gln434Arg	coding	Benign
16	84480032	G	A	G84480032A	MEAK7	NM_020947.4(MEAK7):c.1258-6C>T	noncoding	Benign
16	84486776	C	T	C84486776T	MEAK7	NM_020947.4(MEAK7):c.813G>A:p.Ser271=	coding	Benign
16	84486853	G	A	G84486853A	MEAK7	NM_020947.4(MEAK7):c.736C>T:p.Leu246=	coding	Benign
16	84486890	C	G	C84486890G	MEAK7	NM_020947.4(MEAK7):c.699G>C:p.Glu233Asp	coding	Benign
16	84486900	A	G	A84486900G	MEAK7	NM_020947.4(MEAK7):c.689T>C:p.Leu230Pro	coding	Benign
16	84487065	G	A	G84487065A	MEAK7	NM_020947.4(MEAK7):c.530-6C>T	noncoding	Benign
16	84495781	A	C	A84495781C	MEAK7	NM_020947.4(MEAK7):c.286T>G:p.Ser96Ala	coding	Benign
16	84495871	G	A	G84495871A	MEAK7	NM_020947.4(MEAK7):c.196C>T:p.Leu66=	coding	Benign
16	84498058	C	A	C84498058A	MEAK7	NM_020947.4(MEAK7):c.29G>T:p.Arg10Leu	coding	Benign
16	84850594	C	T	C84850594T	CRISPLD2	NM_031476.4(CRISPLD2):c.519C>T:p.Ile173=	coding	Benign
16	84854801	C	T	C84854801T	CRISPLD2	NM_031476.4(CRISPLD2):c.681C>T:p.Gly227=	coding	Benign
16	84866995	A	G	A84866995G	CRISPLD2	NM_031476.4(CRISPLD2):c.808A>G:p.Met270Val	coding	Benign
16	84873915	A	C	A84873915C	CRISPLD2	NM_031476.4(CRISPLD2):c.1113-5A>C	noncoding	Benign
16	84877487	A	G	A84877487G	CRISPLD2	NM_031476.4(CRISPLD2):c.1206A>G:p.Glu402=	coding	Benign
16	84880571	A	G	A84880571G	CRISPLD2	NM_031476.4(CRISPLD2):c.1292A>G:p.Asn431Ser	coding	Benign
16	84880580	C	G	C84880580G	CRISPLD2	NM_031476.4(CRISPLD2):c.1301C>G:p.Ala434Gly	coding	Benign
16	85655727	A	T	A85655727T	GSE1	NM_014615.5(GSE1):c.799A>T:p.Met267Leu	coding	Benign
16	85655904	C	T	C85655904T	GSE1	NM_014615.5(GSE1):c.976C>T:p.Leu326Phe	coding	Benign
16	85657512	C	T	C85657512T	GSE1	NM_014615.5(GSE1):c.1548C>T:p.Ser516=	coding	Benign
16	85663514	C	T	C85663514T	GSE1	NM_014615.5(GSE1):c.2544C>T:p.Arg848=	coding	Benign
16	85678531	G	A	G85678531A	GINS2	NM_016095.3(GINS2):c.432+9C>T	noncoding	Benign
16	85688801	G	A	G85688801A	GINS2	NM_016095.3(GINS2):c.90+8C>T	noncoding	Benign
16	85805022	G	A	G85805022A	COX4I1	NM_001861.6(COX4I1):c.159G>A:p.Lys53=	coding	Benign
16	85805091	T	C	T85805091C	COX4I1	NM_001861.6(COX4I1):c.228T>C:p.Asp76=	coding	Benign
16	85806818	C	A	C85806818A	COX4I1	NM_001861.6(COX4I1):c.454C>A:p.Pro152Thr	coding	Pathogenic
16	85909053	A	G	A85909053G	IRF8	NM_002163.4(IRF8):c.238A>G:p.Thr80Ala	coding	Pathogenic
16	85909115	A	G	A85909115G	IRF8	NM_002163.4(IRF8):c.300A>G:p.Gln100=	coding	Benign
16	85909137	A	G	A85909137G	IRF8	NM_002163.4(IRF8):c.322A>G:p.Lys108Glu	coding	Pathogenic
16	85911598	C	T	C85911598T	IRF8	NM_002163.4(IRF8):c.387C>T:p.Cys129=	coding	Benign
16	85911643	C	T	C85911643T	IRF8	NM_002163.4(IRF8):c.432C>T:p.Asp144=	coding	Benign
16	85913178	G	T	G85913178T	IRF8	NM_002163.4(IRF8):c.495G>T:p.Pro165=	coding	Benign
16	85918487	C	T	C85918487T	IRF8	NM_002163.4(IRF8):c.672C>T:p.Pro224=	coding	Benign
16	85918628	C	T	C85918628T	IRF8	NM_002163.4(IRF8):c.813C>T:p.Phe271=	coding	Benign
16	85918679	C	T	C85918679T	IRF8	NM_002163.4(IRF8):c.864C>T:p.Phe288=	coding	Benign
16	85918709	C	T	C85918709T	IRF8	NM_002163.4(IRF8):c.894C>T:p.Phe298=	coding	Benign
16	85921195	G	A	G85921195A	IRF8	NM_002163.4(IRF8):c.1194G>A:p.Pro398=	coding	Benign
16	85921237	A	G	A85921237G	IRF8	NM_002163.4(IRF8):c.1236A>G:p.Ser412=	coding	Benign
16	85921276	C	T	C85921276T	IRF8	NM_002163.4(IRF8):c.1275C>T:p.Thr425=	coding	Benign
16	86510658	C	A	C86510658A	FOXF1	NM_001451.3(FOXF1):c.89C>A:p.Ser30Ter	coding	Pathogenic
16	86510714	C	G	C86510714G	FOXF1	NM_001451.3(FOXF1):c.145C>G:p.Pro49Ala	coding	Pathogenic
16	86510714	C	T	C86510714T	FOXF1	NM_001451.3(FOXF1):c.145C>T:p.Pro49Ser	coding	Pathogenic
16	86510760	C	A	C86510760A	FOXF1	NM_001451.3(FOXF1):c.191C>A:p.Ser64Ter	coding	Pathogenic
16	86510773	C	G	C86510773G	FOXF1	NM_001451.3(FOXF1):c.204C>G:p.Arg68=	coding	Benign
16	86510790	T	A	T86510790A	FOXF1	NM_001451.3(FOXF1):c.221T>A:p.Ile74Asn	coding	Pathogenic
16	86510794	C	A	C86510794A	FOXF1	NM_001451.3(FOXF1):c.225C>A:p.Tyr75Ter	coding	Pathogenic
16	86510822	T	C	T86510822C	FOXF1	NM_001451.3(FOXF1):c.253T>C:p.Phe85Leu	coding	Pathogenic
16	86510863	C	A	C86510863A	FOXF1	NM_001451.3(FOXF1):c.294C>A:p.His98Gln	coding	Pathogenic
16	86510885	T	C	T86510885C	FOXF1	NM_001451.3(FOXF1):c.316T>C:p.Phe106Leu	coding	Pathogenic
16	86511045	A	G	A86511045G	FOXF1	NM_001451.3(FOXF1):c.476A>G:p.Asn159Ser	coding	Benign
16	86511108	C	A	C86511108A	FOXF1	NM_001451.3(FOXF1):c.539C>A:p.Ser180Ter	coding	Pathogenic
16	86511214	C	T	C86511214T	FOXF1	NM_001451.3(FOXF1):c.645C>T:p.His215=	coding	Benign
16	86511320	A	G	A86511320G	FOXF1	NM_001451.3(FOXF1):c.751A>G:p.Thr251Ala	coding	Benign
16	86511431	C	T	C86511431T	FOXF1	NM_001451.3(FOXF1):c.862C>T:p.Gln288Ter	coding	Pathogenic
16	86511442	C	T	C86511442T	FOXF1	NM_001451.3(FOXF1):c.873C>T:p.Ser291=	coding	Benign
16	86511477	G	A	G86511477A	FOXF1	NM_001451.3(FOXF1):c.908G>A:p.Ser303Asn	coding	Benign
16	86512992	C	T	C86512992T	FOXF1	NM_001451.3(FOXF1):c.1047C>T:p.Asn349=	coding	Benign
16	86513028	G	A	G86513028A	FOXF1	NM_001451.3(FOXF1):c.1083G>A:p.Gly361=	coding	Benign
16	86513083	T	C	T86513083C	FOXF1	NM_001451.3(FOXF1):c.1138T>C:p.Ter380Arg	coding	Pathogenic
16	86513084	G	C	G86513084C	FOXF1	NM_001451.3(FOXF1):c.1139G>C:p.Ter380Ser	coding	Pathogenic
16	86567443	C	T	C86567443T	FOXC2	NM_005251.3(FOXC2):c.108C>T:p.Ser36=	coding	Benign
16	86567457	A	T	A86567457T	FOXC2	NM_005251.3(FOXC2):c.122A>T:p.Tyr41Phe	coding	Pathogenic
16	86567632	C	G	C86567632G	FOXC2	NM_005251.3(FOXC2):c.297C>G:p.Tyr99Ter	coding	Pathogenic
16	86567696	C	T	C86567696T	FOXC2	NM_005251.3(FOXC2):c.361C>T:p.Arg121Cys	coding	Pathogenic
16	86567697	G	A	G86567697A	FOXC2	NM_005251.3(FOXC2):c.362G>A:p.Arg121His	coding	Pathogenic
16	86567709	C	T	C86567709T	FOXC2	NM_005251.3(FOXC2):c.374C>T:p.Ser125Leu	coding	Pathogenic
16	86567761	G	A	G86567761A	FOXC2	NM_005251.3(FOXC2):c.426G>A:p.Lys142=	coding	Benign
16	86567770	C	T	C86567770T	FOXC2	NM_005251.3(FOXC2):c.435C>T:p.Tyr145=	coding	Benign
16	86567983	G	A	G86567983A	FOXC2	NM_005251.3(FOXC2):c.648G>A:p.Glu216=	coding	Benign
16	86568047	C	T	C86568047T	FOXC2	NM_005251.3(FOXC2):c.712C>T:p.Gln238Ter	coding	Pathogenic
16	86568540	C	T	C86568540T	FOXC2	NM_005251.3(FOXC2):c.1205C>T:p.Pro402Leu	coding	Pathogenic
16	86568593	C	T	C86568593T	FOXC2	NM_005251.3(FOXC2):c.1258C>T:p.Gln420Ter	coding	Pathogenic
16	86568643	C	T	C86568643T	FOXC2	NM_005251.3(FOXC2):c.1308C>T:p.Pro436=	coding	Benign/Likely_benign
16	86568798	A	G	A86568798G	FOXC2	NM_005251.3(FOXC2):c.1463A>G:p.Tyr488Cys	coding	Benign
16	87333876	G	A	G87333876A	FBXO31	NM_024735.5(FBXO31):c.1397+10C>T	noncoding	Benign
16	87333945	G	A	G87333945A	FBXO31	NM_024735.5(FBXO31):c.1338C>T:p.Phe446=	coding	Benign
16	87334102	C	T	C87334102T	FBXO31	NM_024735.5(FBXO31):c.1181G>A:p.Arg394Gln	coding	Benign/Likely_benign
16	87334218	G	A	G87334218A	FBXO31	NM_024735.5(FBXO31):c.1065C>T:p.Pro355=	coding	Benign
16	87342892	G	A	G87342892A	FBXO31	NM_024735.5(FBXO31):c.717C>T:p.Ser239=	coding	Benign
16	87383661	C	G	C87383661G	FBXO31	NM_024735.5(FBXO31):c.84G>C:p.Thr28=	coding	Benign
16	87398847	G	C	G87398847C	MAP1LC3B	NM_022818.5(MAP1LC3B):c.73G>C:p.Glu25Gln	coding	Benign
16	87411577	G	A	G87411577A	ZCCHC14	NM_015144.3(ZCCHC14):c.3144C>T:p.Cys1048=	coding	Benign
16	87412066	G	T	G87412066T	ZCCHC14	NM_015144.3(ZCCHC14):c.2655C>A:p.Gly885=	coding	Benign
16	87417677	G	A	G87417677A	ZCCHC14	NM_015144.3(ZCCHC14):c.1166C>T:p.Pro389Leu	coding	Benign
16	87420674	G	T	G87420674T	ZCCHC14	NM_015144.3(ZCCHC14):c.883C>A:p.Pro295Thr	coding	Benign
16	87644280	C	T	C87644280T	JPH3	NM_020655.4(JPH3):c.405C>T:p.Val135=	coding	Benign
16	87644382	C	T	C87644382T	JPH3	NM_020655.4(JPH3):c.507C>T:p.Ser169=	coding	Benign
16	87644400	G	A	G87644400A	JPH3	NM_020655.4(JPH3):c.525G>A:p.Thr175=	coding	Benign
16	87644412	C	T	C87644412T	JPH3	NM_020655.4(JPH3):c.537C>T:p.Pro179=	coding	Benign
16	87644470	G	A	G87644470A	JPH3	NM_020655.4(JPH3):c.595G>A:p.Val199Met	coding	Benign
16	87644487	C	T	C87644487T	JPH3	NM_020655.4(JPH3):c.612C>T:p.Ser204=	coding	Benign
16	87644613	C	T	C87644613T	JPH3	NM_020655.4(JPH3):c.738C>T:p.Ser246=	coding	Benign
16	87644631	C	T	C87644631T	JPH3	NM_020655.4(JPH3):c.756C>T:p.Thr252=	coding	Benign
16	87644688	C	T	C87644688T	JPH3	NM_020655.4(JPH3):c.813C>T:p.Ala271=	coding	Benign
16	87644718	C	T	C87644718T	JPH3	NM_020655.4(JPH3):c.843C>T:p.Asp281=	coding	Benign
16	87644796	C	T	C87644796T	JPH3	NM_020655.4(JPH3):c.921C>T:p.Asp307=	coding	Benign
16	87644814	C	T	C87644814T	JPH3	NM_020655.4(JPH3):c.939C>T:p.Gly313=	coding	Benign
16	87644830	C	A	C87644830A	JPH3	NM_020655.4(JPH3):c.955C>A:p.Arg319=	coding	Benign
16	87644865	C	T	C87644865T	JPH3	NM_020655.4(JPH3):c.990C>T:p.Asp330=	coding	Benign
16	87644907	C	T	C87644907T	JPH3	NM_020655.4(JPH3):c.1032C>T:p.Val344=	coding	Benign
16	87645003	C	T	C87645003T	JPH3	NM_020655.4(JPH3):c.1128C>T:p.Ile376=	coding	Benign
16	87689686	C	T	C87689686T	JPH3	NM_020655.4(JPH3):c.1326C>T:p.Asp442=	coding	Benign
16	87689743	C	T	C87689743T	JPH3	NM_020655.4(JPH3):c.1383C>T:p.Tyr461=	coding	Benign
16	87689758	T	C	T87689758C	JPH3	NM_020655.4(JPH3):c.1398T>C:p.Thr466=	coding	Benign
16	87689896	C	T	C87689896T	JPH3	NM_020655.4(JPH3):c.1536C>T:p.Gly512=	coding	Benign
16	87689929	C	T	C87689929T	JPH3	NM_020655.4(JPH3):c.1569C>T:p.Ala523=	coding	Benign
16	87690490	C	T	C87690490T	JPH3	NM_020655.4(JPH3):c.2130C>T:p.Ser710=	coding	Benign
16	87696571	C	G	C87696571G	JPH3	NM_020655.4(JPH3):c.2167-9C>G	noncoding	Benign
16	87837854	G	A	G87837854A	SLC7A5	NM_003486.7(SLC7A5):c.1131C>T:p.Leu377=	coding	Benign
16	87838708	G	A	G87838708A	SLC7A5	NM_003486.7(SLC7A5):c.1043+6C>T	noncoding	Benign
16	87838749	G	A	G87838749A	SLC7A5	NM_003486.7(SLC7A5):c.1008C>T:p.Phe336=	coding	Benign
16	87841130	G	C	G87841130C	SLC7A5	NM_003486.7(SLC7A5):c.690C>G:p.Asn230Lys	coding	Benign
16	87841152	T	A	T87841152A	SLC7A5	NM_003486.7(SLC7A5):c.668A>T:p.Asp223Val	coding	Benign
16	87851791	G	A	G87851791A	SLC7A5	NM_003486.7(SLC7A5):c.597C>T:p.Ala199=	coding	Benign
16	87869036	G	A	G87869036A	SLC7A5	NM_003486.7(SLC7A5):c.387C>T:p.Ala129=	coding	Benign
16	87888165	C	T	C87888165T	CA5A	NM_001739.2(CA5A):c.882G>A:p.Ala294=	coding	Benign
16	87888240	T	A	T87888240A	CA5A	NM_001739.2(CA5A):c.807A>T:p.Ala269=	coding	Benign
16	87891876	A	G	A87891876G	CA5A	NM_001739.2(CA5A):c.697T>C:p.Ser233Pro	coding	Pathogenic
16	87891928	G	A	G87891928A	CA5A	NM_001739.2(CA5A):c.645C>T:p.Phe215=	coding	Benign
16	87902437	G	A	G87902437A	CA5A	NM_001739.2(CA5A):c.543C>T:p.Gly181=	coding	Benign
16	87904792	G	A	G87904792A	CA5A	NM_001739.2(CA5A):c.453C>T:p.Pro151=	coding	Benign
16	87926916	C	T	C87926916T	CA5A	NM_001739.2(CA5A):c.172G>A:p.Val58Met	coding	Benign
16	87926954	A	T	A87926954T	CA5A	NM_001739.2(CA5A):c.143-9T>A	noncoding	Benign
16	87936313	G	T	G87936313T	CA5A	NM_001739.2(CA5A):c.138C>A:p.Asn46Lys	coding	Benign
16	87936316	A	T	A87936316T	CA5A	NM_001739.2(CA5A):c.135T>A:p.Asn45Lys	coding	Benign
16	87936357	G	A	G87936357A	CA5A	NM_001739.2(CA5A):c.94C>T:p.Arg32Ter	coding	Pathogenic
16	88027562	G	A	G88027562A	BANP	NM_079837.3(BANP):c.858G>A:p.Thr286=	coding	Benign
16	88427532	G	A	G88427532A	ZNF469	NM_001367624.1(ZNF469):c.62G>A:p.Arg21His	coding	Benign/Likely_benign
16	88427547	G	C	G88427547C	ZNF469	NM_001367624.1(ZNF469):c.77G>C:p.Ser26Thr	coding	Pathogenic
16	88427760	C	T	C88427760T	ZNF469	NM_001367624.1(ZNF469):c.290C>T:p.Pro97Leu	coding	Pathogenic
16	88427807	G	A	G88427807A	ZNF469	NM_001367624.1(ZNF469):c.337G>A:p.Glu113Lys	coding	Pathogenic
16	88428339	C	T	C88428339T	ZNF469	NM_001367624.1(ZNF469):c.869C>T:p.Ala290Val	coding	Benign/Likely_benign
16	88428416	G	A	G88428416A	ZNF469	NM_001367624.1(ZNF469):c.946G>A:p.Glu316Lys	coding	Benign
16	88428539	T	C	T88428539C	ZNF469	NM_001367624.1(ZNF469):c.1069T>C:p.Ser357Pro	coding	Benign
16	88428568	A	C	A88428568C	ZNF469	NM_001367624.1(ZNF469):c.1098A>C:p.Arg366Ser	coding	Benign
16	88428613	C	A	C88428613A	ZNF469	NM_001367624.1(ZNF469):c.1143C>A:p.Pro381=	coding	Benign/Likely_benign
16	88428755	G	A	G88428755A	ZNF469	NM_001367624.1(ZNF469):c.1285G>A:p.Ala429Thr	coding	Benign/Likely_benign
16	88428959	G	A	G88428959A	ZNF469	NM_001367624.1(ZNF469):c.1489G>A:p.Gly497Arg	coding	Benign/Likely_benign
16	88428999	G	C	G88428999C	ZNF469	NM_001367624.1(ZNF469):c.1529G>C:p.Gly510Ala	coding	Benign
16	88429097	G	A	G88429097A	ZNF469	NM_001367624.1(ZNF469):c.1627G>A:p.Gly543Ser	coding	Benign
16	88429167	C	T	C88429167T	ZNF469	NM_001367624.1(ZNF469):c.1697C>T:p.Ala566Val	coding	Benign/Likely_benign
16	88429246	A	G	A88429246G	ZNF469	NM_001367624.1(ZNF469):c.1776A>G:p.Pro592=	coding	Benign
16	88429504	C	T	C88429504T	ZNF469	NM_001367624.1(ZNF469):c.2034C>T:p.Ala678=	coding	Benign/Likely_benign
16	88429505	G	A	G88429505A	ZNF469	NM_001367624.1(ZNF469):c.2035G>A:p.Glu679Lys	coding	Benign/Likely_benign
16	88429533	C	A	C88429533A	ZNF469	NM_001367624.1(ZNF469):c.2063C>A:p.Thr688Asn	coding	Pathogenic
16	88429600	T	C	T88429600C	ZNF469	NM_001367624.1(ZNF469):c.2130T>C:p.Pro710=	coding	Benign
16	88429877	G	T	G88429877T	ZNF469	NM_001367624.1(ZNF469):c.2407G>T:p.Ala803Ser	coding	Benign/Likely_benign
16	88430113	C	G	C88430113G	ZNF469	NM_001367624.1(ZNF469):c.2643C>G:p.Ser881=	coding	Benign
16	88430169	C	G	C88430169G	ZNF469	NM_001367624.1(ZNF469):c.2699C>G:p.Pro900Arg	coding	Pathogenic
16	88430284	G	A	G88430284A	ZNF469	NM_001367624.1(ZNF469):c.2814G>A:p.Ala938=	coding	Benign/Likely_benign
16	88430383	C	A	C88430383A	ZNF469	NM_001367624.1(ZNF469):c.2913C>A:p.Gly971=	coding	Benign/Likely_benign
16	88430589	A	C	A88430589C	ZNF469	NM_001367624.1(ZNF469):c.3119A>C:p.Lys1040Thr	coding	Pathogenic
16	88430595	G	A	G88430595A	ZNF469	NM_001367624.1(ZNF469):c.3125G>A:p.Arg1042Gln	coding	Benign/Likely_benign
16	88430623	T	C	T88430623C	ZNF469	NM_001367624.1(ZNF469):c.3153T>C:p.Ile1051=	coding	Benign
16	88430777	C	T	C88430777T	ZNF469	NM_001367624.2(ZNF469):c.3307C>T:p.Gln1103Ter	coding	Pathogenic
16	88430790	G	A	G88430790A	ZNF469	NM_001367624.1(ZNF469):c.3320G>A:p.Arg1107Gln	coding	Benign
16	88430986	T	C	T88430986C	ZNF469	NM_001367624.1(ZNF469):c.3516T>C:p.Arg1172=	coding	Benign/Likely_benign
16	88430992	G	A	G88430992A	ZNF469	NM_001367624.1(ZNF469):c.3522G>A:p.Pro1174=	coding	Benign
16	88431038	A	G	A88431038G	ZNF469	NM_001367624.1(ZNF469):c.3568A>G:p.Lys1190Glu	coding	Benign
16	88431120	C	T	C88431120T	ZNF469	NM_001367624.1(ZNF469):c.3650C>T:p.Pro1217Leu	coding	Benign/Likely_benign
16	88431364	G	C	G88431364C	ZNF469	NM_001367624.1(ZNF469):c.3894G>C:p.Val1298=	coding	Benign/Likely_benign
16	88431728	G	T	G88431728T	ZNF469	NM_001367624.1(ZNF469):c.4258G>T:p.Glu1420Ter	coding	Pathogenic
16	88431813	C	T	C88431813T	ZNF469	NM_001367624.1(ZNF469):c.4343C>T:p.Pro1448Leu	coding	Benign
16	88431876	A	G	A88431876G	ZNF469	NM_001367624.1(ZNF469):c.4406A>G:p.Tyr1469Cys	coding	Benign/Likely_benign
16	88431889	T	G	T88431889G	ZNF469	NM_001367624.1(ZNF469):c.4419T>G:p.Ser1473=	coding	Benign
16	88431891	C	T	C88431891T	ZNF469	NM_001367624.1(ZNF469):c.4421C>T:p.Ala1474Val	coding	Benign/Likely_benign
16	88431917	G	T	G88431917T	ZNF469	NM_001367624.1(ZNF469):c.4447G>T:p.Ala1483Ser	coding	Pathogenic
16	88432380	G	C	G88432380C	ZNF469	NM_001367624.1(ZNF469):c.4910G>C:p.Arg1637Pro	coding	Benign
16	88432396	G	A	G88432396A	ZNF469	NM_001367624.1(ZNF469):c.4926G>A:p.Ser1642=	coding	Benign/Likely_benign
16	88432557	C	T	C88432557T	ZNF469	NM_001367624.1(ZNF469):c.5087C>T:p.Pro1696Leu	coding	Benign/Likely_benign
16	88433131	C	G	C88433131G	ZNF469	NM_001367624.1(ZNF469):c.5661C>G:p.Thr1887=	coding	Benign
16	88433151	A	T	A88433151T	ZNF469	NM_001367624.1(ZNF469):c.5681A>T:p.Gln1894Leu	coding	Pathogenic
16	88433167	C	T	C88433167T	ZNF469	NM_001367624.1(ZNF469):c.5697C>T:p.Ser1899=	coding	Benign/Likely_benign
16	88433502	G	A	G88433502A	ZNF469	NM_001367624.1(ZNF469):c.6032G>A:p.Gly2011Asp	coding	Benign/Likely_benign
16	88433561	G	A	G88433561A	ZNF469	NM_001367624.1(ZNF469):c.6091G>A:p.Glu2031Lys	coding	Benign
16	88433932	G	A	G88433932A	ZNF469	NM_001367624.1(ZNF469):c.6462G>A:p.Pro2154=	coding	Benign
16	88433940	G	A	G88433940A	ZNF469	NM_001367624.1(ZNF469):c.6470G>A:p.Arg2157Lys	coding	Benign/Likely_benign
16	88434022	G	T	G88434022T	ZNF469	NM_001367624.1(ZNF469):c.6552G>T:p.Thr2184=	coding	Benign/Likely_benign
16	88434247	G	A	G88434247A	ZNF469	NM_001367624.1(ZNF469):c.6777G>A:p.Glu2259=	coding	Benign/Likely_benign
16	88434249	A	G	A88434249G	ZNF469	NM_001367624.1(ZNF469):c.6779A>G:p.Lys2260Arg	coding	Benign/Likely_benign
16	88434279	C	A	C88434279A	ZNF469	NM_001367624.1(ZNF469):c.6809C>A:p.Ser2270Tyr	coding	Pathogenic
16	88434414	C	G	C88434414G	ZNF469	NM_001367624.1(ZNF469):c.6944C>G:p.Pro2315Arg	coding	Benign/Likely_benign
16	88434626	G	C	G88434626C	ZNF469	NM_001367624.1(ZNF469):c.7156G>C:p.Gly2386Arg	coding	Benign
16	88434978	C	A	C88434978A	ZNF469	NM_001367624.1(ZNF469):c.7508C>A:p.Ala2503Glu	coding	Benign/Likely_benign
16	88435145	A	G	A88435145G	ZNF469	NM_001367624.1(ZNF469):c.7675A>G:p.Lys2559Glu	coding	Benign/Likely_benign
16	88435234	G	A	G88435234A	ZNF469	NM_001367624.1(ZNF469):c.7764G>A:p.Pro2588=	coding	Benign
16	88435546	G	A	G88435546A	ZNF469	NM_001367624.1(ZNF469):c.8076G>A:p.Pro2692=	coding	Benign/Likely_benign
16	88435563	T	A	T88435563A	ZNF469	NM_001367624.1(ZNF469):c.8093T>A:p.Leu2698Gln	coding	Benign
16	88435591	G	A	G88435591A	ZNF469	NM_001367624.1(ZNF469):c.8121G>A:p.Ala2707=	coding	Benign/Likely_benign
16	88435800	A	T	A88435800T	ZNF469	NM_001367624.1(ZNF469):c.8330A>T:p.Asp2777Val	coding	Benign/Likely_benign
16	88436074	C	T	C88436074T	ZNF469	NM_001367624.1(ZNF469):c.8604C>T:p.Arg2868=	coding	Benign
16	88436097	A	G	A88436097G	ZNF469	NM_001367624.1(ZNF469):c.8627A>G:p.His2876Arg	coding	Benign
16	88436466	G	T	G88436466T	ZNF469	NM_001367624.1(ZNF469):c.8996G>T:p.Gly2999Val	coding	Pathogenic
16	88436595	G	A	G88436595A	ZNF469	NM_001367624.1(ZNF469):c.9125G>A:p.Arg3042His	coding	Benign/Likely_benign
16	88436738	C	T	C88436738T	ZNF469	NM_001367624.1(ZNF469):c.9268C>T:p.Arg3090Ter	coding	Pathogenic
16	88437570	G	A	G88437570A	ZNF469	NM_001367624.1(ZNF469):c.10100G>A:p.Cys3367Tyr	coding	Pathogenic
16	88438043	G	A	G88438043A	ZNF469	NM_001367624.1(ZNF469):c.10573G>A:p.Glu3525Lys	coding	Benign
16	88438069	C	T	C88438069T	ZNF469	NM_001367624.1(ZNF469):c.10599C>T:p.Pro3533=	coding	Benign/Likely_benign
16	88438178	G	A	G88438178A	ZNF469	NM_001367624.1(ZNF469):c.10708G>A:p.Ala3570Thr	coding	Benign/Likely_benign
16	88438265	G	T	G88438265T	ZNF469	NM_001367624.1(ZNF469):c.10795G>T:p.Ala3599Ser	coding	Benign/Likely_benign
16	88438442	G	C	G88438442C	ZNF469	NM_001367624.1(ZNF469):c.10972G>C:p.Glu3658Gln	coding	Benign
16	88438445	G	A	G88438445A	ZNF469	NM_001367624.1(ZNF469):c.10975G>A:p.Gly3659Arg	coding	Benign/Likely_benign
16	88438655	G	A	G88438655A	ZNF469	NM_001367624.1(ZNF469):c.11185G>A:p.Gly3729Ser	coding	Pathogenic
16	88438879	G	C	G88438879C	ZNF469	NM_001367624.1(ZNF469):c.11409G>C:p.Gly3803=	coding	Benign/Likely_benign
16	88439169	C	T	C88439169T	ZNF469	NM_001367624.1(ZNF469):c.11699C>T:p.Pro3900Leu	coding	Pathogenic
16	88439227	A	G	A88439227G	ZNF469	NM_001367624.1(ZNF469):c.11757A>G:p.Pro3919=	coding	Benign
16	88439326	C	T	C88439326T	ZNF469	NM_001367624.1(ZNF469):c.11856C>T:p.Ser3952=	coding	Benign
16	88439340	G	A	G88439340A	ZNF469	NM_001367624.1(ZNF469):c.*8G>A	noncoding	Benign
16	88439950	T	G	T88439950G	ZNF469	NM_001367624.1(ZNF469):c.*618T>G	noncoding	Benign
16	88440120	G	A	G88440120A	ZNF469	NM_001367624.1(ZNF469):c.*788G>A	noncoding	Benign
16	88440333	A	G	A88440333G	ZNF469	NM_001367624.1(ZNF469):c.*1001A>G	noncoding	Benign
16	88489094	G	C	G88489094C	ZFPM1	NM_153813.3(ZFPM1):c.209G>C:p.Gly70Ala	coding	Benign
16	88526888	C	T	C88526888T	ZFPM1	NM_153813.3(ZFPM1):c.477C>T:p.Ala159=	coding	Benign
16	88533290	G	C	G88533290C	ZFPM1	NM_153813.3(ZFPM1):c.1332G>C:p.Glu444Asp	coding	Benign
16	88577225	C	T	C88577225T	ZC3H18	NM_144604.4(ZC3H18):c.102C>T:p.Ser34=	coding	Benign
16	88639068	G	A	G88639068A	IL17C	NM_013278.4(IL17C):c.94G>A:p.Gly32Ser	coding	Benign
16	88640066	A	G	A88640066G	IL17C	NM_013278.4(IL17C):c.588A>G:p.Ser196=	coding	Benign
16	88643420	A	G	A88643420G	CYBA	NM_000101.4(CYBA):c.521T>C:p.Val174Ala	coding	Benign
16	88643461	C	T	C88643461T	CYBA	NM_000101.4(CYBA):c.480G>A:p.Pro160=	coding	Benign
16	88643474	G	T	G88643474T	CYBA	NM_000101.4(CYBA):c.467C>A:p.Pro156Gln	coding	Pathogenic
16	88643560	A	G	A88643560G	CYBA	NM_000101.4(CYBA):c.381T>C:p.Arg127=	coding	Benign
16	88643568	C	T	C88643568T	CYBA	NM_000101.4(CYBA):c.373G>A:p.Ala125Thr	coding	Pathogenic
16	88646131	G	T	G88646131T	CYBA	NM_000101.4(CYBA):c.354C>A:p.Ser118Arg	coding	Pathogenic
16	88646212	G	C	G88646212C	CYBA	NM_000101.4(CYBA):c.288-15C>G	noncoding	Pathogenic
16	88646754	C	T	C88646754T	CYBA	NM_000101.4(CYBA):c.287+1G>A	noncoding	Pathogenic
16	88646761	T	C	T88646761C	CYBA	NM_000101.4(CYBA):c.281A>G:p.His94Arg	coding	Pathogenic
16	88646773	C	T	C88646773T	CYBA	NM_000101.4(CYBA):c.269G>A:p.Arg90Gln	coding	Pathogenic
16	88646774	G	A	G88646774A	CYBA	NM_000101.4(CYBA):c.268C>T:p.Arg90Trp	coding	Pathogenic
16	88646781	G	C	G88646781C	CYBA	NM_000101.4(CYBA):c.261C>G:p.Tyr87Ter	coding	Pathogenic
16	88646781	G	T	G88646781T	CYBA	NM_000101.4(CYBA):c.261C>A:p.Tyr87Ter	coding	Pathogenic
16	88646805	C	G	C88646805G	CYBA	NM_000101.4(CYBA):c.237G>C:p.Leu79=	coding	Benign
16	88646828	A	G	A88646828G	CYBA	NM_000101.4(CYBA):c.214T>C:p.Tyr72His	coding	Benign
16	88646840	T	C	T88646840C	CYBA	NM_000101.4(CYBA):c.204-2A>G	noncoding	Pathogenic
16	88647093	A	G	A88647093G	CYBA	NM_000101.4(CYBA):c.203+8T>C	noncoding	Benign
16	88647125	T	G	T88647125G	CYBA	NM_000101.4(CYBA):c.179A>C:p.Lys60Thr	coding	Benign/Likely_benign
16	88647149	A	G	A88647149G	CYBA	NM_000101.4(CYBA):c.155T>C:p.Leu52Pro	coding	Pathogenic
16	88648103	C	T	C88648103T	CYBA	NM_000101.4(CYBA):c.70G>A:p.Gly24Arg	coding	Pathogenic
16	88648118	C	T	C88648118T	CYBA	NM_000101.4(CYBA):c.59-4G>A	noncoding	Benign
16	88650988	C	T	C88650988T	CYBA	NM_000101.4(CYBA):c.26G>A:p.Trp9Ter	coding	Pathogenic
16	88651007	G	A	G88651007A	CYBA	NM_000101.4(CYBA):c.7C>T:p.Gln3Ter	coding	Pathogenic
16	88653318	T	C	T88653318C	MVD	NM_002461.3(MVD):c.1104A>G:p.Lys368=	coding	Benign
16	88655221	T	C	T88655221C	MVD	NM_002461.3(MVD):c.875A>G:p.Asn292Ser	coding	Pathogenic
16	88655350	A	G	A88655350G	MVD	NM_002461.3(MVD):c.746T>C:p.Phe249Ser	coding	Pathogenic
16	88657940	C	T	C88657940T	MVD	NM_002461.3(MVD):c.231G>A:p.Pro77=	coding	Benign
16	88709982	T	C	T88709982C	CTU2	NM_001012759.3(CTU2):c.188T>C:p.Leu63Pro	coding	Pathogenic
16	88710287	G	A	G88710287A	CTU2	NM_001012759.3(CTU2):c.282+5G>A	noncoding	Pathogenic
16	88711674	G	C	G88711674C	CTU2	NM_001012759.3(CTU2):c.322G>C:p.Ala108Pro	coding	Benign
16	88712283	C	T	C88712283T	CTU2	NM_001012759.3(CTU2):c.353C>T:p.Ala118Val	coding	Benign
16	88712669	G	A	G88712669A	CTU2	NM_001012759.3(CTU2):c.501G>A:p.Leu167=	coding	Benign
16	88712690	C	T	C88712690T	CTU2	NM_001012759.3(CTU2):c.522C>T:p.Tyr174=	coding	Benign
16	88713447	G	A	G88713447A	CTU2	NM_001012759.3(CTU2):c.873G>A:p.Thr291=	coding	Pathogenic
16	88713742	C	T	C88713742T	CTU2	NM_001012759.3(CTU2):c.969C>T:p.Ser323=	coding	Benign
16	88714405	G	T	G88714405T	CTU2	NM_001012759.3(CTU2):c.1120G>T:p.Gly374Cys	coding	Benign
16	88714412	G	A	G88714412A	CTU2	NM_001012759.3(CTU2):c.1127G>A:p.Arg376Gln	coding	Benign
16	88714606	G	A	G88714606A	CTU2	NM_001012759.3(CTU2):c.1221G>A:p.Gly407=	coding	Benign
16	88714654	G	A	G88714654A	CTU2	NM_001012759.3(CTU2):c.1269G>A:p.Leu423=	coding	Benign
16	88714674	C	T	C88714674T	CTU2	NM_001012759.3(CTU2):c.1289C>T:p.Pro430Leu	coding	Benign
16	88714732	C	T	C88714732T	CTU2	NM_001012759.3(CTU2):c.1347C>T:p.Cys449=	coding	Benign
16	88714864	G	A	G88714864A	CTU2	NM_001012759.3(CTU2):c.1357G>A:p.Asp453Asn	coding	Benign
16	88715641	C	T	C88715641T	PIEZO1	NM_001142864.4(PIEZO1):c.7530G>A:p.Pro2510=	coding	Benign
16	88715666	T	C	T88715666C	PIEZO1	NM_001142864.4(PIEZO1):c.7505A>G:p.Lys2502Arg	coding	Benign
16	88715671	G	A	G88715671A	PIEZO1	NM_001142864.4(PIEZO1):c.7500C>T:p.Tyr2500=	coding	Benign
16	88715676	A	G	A88715676G	PIEZO1	NM_001142864.4(PIEZO1):c.7495T>C:p.Leu2499=	coding	Benign
16	88715782	C	T	C88715782T	PIEZO1	NM_001142864.4(PIEZO1):c.7389G>A:p.Ser2463=	coding	Benign
16	88715804	C	T	C88715804T	PIEZO1	NM_001142864.4(PIEZO1):c.7367G>A:p.Arg2456His	coding	Pathogenic
16	88715809	G	A	G88715809A	PIEZO1	NM_001142864.4(PIEZO1):c.7362C>T:p.Phe2454=	coding	Benign
16	88715839	G	A	G88715839A	PIEZO1	NM_001142864.4(PIEZO1):c.7332C>T:p.Tyr2444=	coding	Benign
16	88715859	G	A	G88715859A	PIEZO1	NM_001142864.4(PIEZO1):c.7317-5C>T	noncoding	Benign
16	88715960	G	A	G88715960A	PIEZO1	NM_001142864.4(PIEZO1):c.7289C>T:p.Pro2430Leu	coding	Pathogenic
16	88716009	C	T	C88716009T	PIEZO1	NM_001142864.4(PIEZO1):c.7240G>A:p.Asp2414Asn	coding	Benign/Likely_benign
16	88716055	G	A	G88716055A	PIEZO1	NM_001142864.4(PIEZO1):c.7194C>T:p.Thr2398=	coding	Benign
16	88716097	G	A	G88716097A	PIEZO1	NM_001142864.4(PIEZO1):c.7152C>T:p.Gly2384=	coding	Benign
16	88716268	A	G	A88716268G	PIEZO1	NM_001142864.4(PIEZO1):c.7059T>C:p.Pro2353=	coding	Benign
16	88716369	G	A	G88716369A	PIEZO1	NM_001142864.4(PIEZO1):c.7041C>T:p.Asp2347=	coding	Benign
16	88716446	C	A	C88716446A	PIEZO1	NM_001142864.4(PIEZO1):c.6964G>T:p.Glu2322Ter	coding	Pathogenic
16	88716447	G	A	G88716447A	PIEZO1	NM_001142864.4(PIEZO1):c.6963C>T:p.Asn2321=	coding	Benign
16	88716594	G	A	G88716594A	PIEZO1	NM_001142864.4(PIEZO1):c.6891C>T:p.Ala2297=	coding	Benign
16	88716606	G	A	G88716606A	PIEZO1	NM_001142864.4(PIEZO1):c.6879C>T:p.Tyr2293=	coding	Benign
16	88716663	G	A	G88716663A	PIEZO1	NM_001142864.4(PIEZO1):c.6822C>T:p.Ser2274=	coding	Benign
16	88716681	C	T	C88716681T	PIEZO1	NM_001142864.4(PIEZO1):c.6804G>A:p.Ala2268=	coding	Benign/Likely_benign
16	88716692	T	C	T88716692C	PIEZO1	NM_001142864.4(PIEZO1):c.6793A>G:p.Ile2265Val	coding	Benign
16	88716825	C	T	C88716825T	PIEZO1	NM_001142864.4(PIEZO1):c.6734G>A:p.Arg2245Gln	coding	Benign
16	88716877	G	A	G88716877A	PIEZO1	NM_001142864.4(PIEZO1):c.6682C>T:p.Gln2228Ter	coding	Pathogenic
16	88716880	C	T	C88716880T	PIEZO1	NM_001142864.4(PIEZO1):c.6679G>A:p.Ala2227Thr	coding	Benign
16	88716881	G	A	G88716881A	PIEZO1	NM_001142864.4(PIEZO1):c.6678C>T:p.Ser2226=	coding	Benign
16	88716885	A	C	A88716885C	PIEZO1	NM_001142864.4(PIEZO1):c.6674T>G:p.Met2225Arg	coding	Pathogenic
16	88717006	G	A	G88717006A	PIEZO1	NM_001142864.4(PIEZO1):c.6660+17C>T	noncoding	Benign
16	88717032	G	T	G88717032T	PIEZO1	NM_001142864.4(PIEZO1):c.6651C>A:p.Gly2217=	coding	Benign
16	88717041	C	G	C88717041G	PIEZO1	NM_001142864.4(PIEZO1):c.6642G>C:p.Leu2214=	coding	Benign
16	88717113	T	C	T88717113C	PIEZO1	NM_001142864.4(PIEZO1):c.6570A>G:p.Pro2190=	coding	Benign
16	88717172	C	A	C88717172A	PIEZO1	NM_001142864.4(PIEZO1):c.6511G>T:p.Val2171Phe	coding	Pathogenic
16	88719655	C	T	C88719655T	PIEZO1	NM_001142864.4(PIEZO1):c.6390G>A:p.Thr2130=	coding	Benign
16	88719831	G	A	G88719831A	PIEZO1	NM_001142864.4(PIEZO1):c.6294C>T:p.Tyr2098=	coding	Benign
16	88719837	C	T	C88719837T	PIEZO1	NM_001142864.4(PIEZO1):c.6288G>A:p.Lys2096=	coding	Benign
16	88719903	G	A	G88719903A	PIEZO1	NM_001142864.4(PIEZO1):c.6222C>T:p.Phe2074=	coding	Benign
16	88719906	G	A	G88719906A	PIEZO1	NM_001142864.4(PIEZO1):c.6219C>T:p.Tyr2073=	coding	Benign
16	88720175	C	T	C88720175T	PIEZO1	NM_001142864.4(PIEZO1):c.6058G>A:p.Ala2020Thr	coding	Pathogenic
16	88720469	G	A	G88720469A	PIEZO1	NM_001142864.4(PIEZO1):c.5865C>T:p.Arg1955=	coding	Benign
16	88720481	G	A	G88720481A	PIEZO1	NM_001142864.4(PIEZO1):c.5853C>T:p.His1951=	coding	Benign
16	88720496	G	A	G88720496A	PIEZO1	NM_001142864.4(PIEZO1):c.5838C>T:p.Phe1946=	coding	Benign
16	88720506	C	T	C88720506T	PIEZO1	NM_001142864.4(PIEZO1):c.5828G>A:p.Arg1943Gln	coding	Benign
16	88720536	C	T	C88720536T	PIEZO1	NM_001142864.4(PIEZO1):c.5802-4G>A	noncoding	Benign
16	88720644	G	A	G88720644A	PIEZO1	NM_001142864.4(PIEZO1):c.5773C>T:p.Arg1925Trp	coding	Pathogenic
16	88720648	G	A	G88720648A	PIEZO1	NM_001142864.4(PIEZO1):c.5769C>T:p.Ala1923=	coding	Benign
16	88720674	G	T	G88720674T	PIEZO1	NM_001142864.4(PIEZO1):c.5743C>A:p.Arg1915Ser	coding	Benign/Likely_benign
16	88720723	C	G	C88720723G	PIEZO1	NM_001142864.4(PIEZO1):c.5694G>C:p.Glu1898Asp	coding	Benign
16	88721207	C	T	C88721207T	PIEZO1	NM_001142864.4(PIEZO1):c.5627G>A:p.Arg1876Lys	coding	Benign
16	88721265	G	A	G88721265A	PIEZO1	NM_001142864.4(PIEZO1):c.5569C>T:p.Pro1857Ser	coding	Benign
16	88721282	G	A	G88721282A	PIEZO1	NM_001142864.4(PIEZO1):c.5552C>T:p.Thr1851Met	coding	Benign
16	88721296	G	C	G88721296C	PIEZO1	NM_001142864.4(PIEZO1):c.5538C>G:p.Ala1846=	coding	Benign
16	88721319	C	T	C88721319T	PIEZO1	NM_001142864.4(PIEZO1):c.5515G>A:p.Glu1839Lys	coding	Benign
16	88721329	C	T	C88721329T	PIEZO1	NM_001142864.4(PIEZO1):c.5505G>A:p.Ala1835=	coding	Benign
16	88721373	C	T	C88721373T	PIEZO1	NM_001142864.4(PIEZO1):c.5461G>A:p.Gly1821Ser	coding	Benign
16	88721652	G	A	G88721652A	PIEZO1	NM_001142864.4(PIEZO1):c.5289C>T:p.Tyr1763=	coding	Benign
16	88721883	G	A	G88721883A	PIEZO1	NM_001142864.4(PIEZO1):c.5139C>T:p.Leu1713=	coding	Benign
16	88721901	C	G	C88721901G	PIEZO1	NM_001142864.4(PIEZO1):c.5121G>C:p.Ser1707=	coding	Benign
16	88722069	A	G	A88722069G	PIEZO1	NM_001142864.4(PIEZO1):c.4956-3T>C	noncoding	Benign
16	88722215	C	T	C88722215T	PIEZO1	NM_001142864.4(PIEZO1):c.4955+3G>A	noncoding	Benign
16	88722285	C	A	C88722285A	PIEZO1	NM_001142864.4(PIEZO1):c.4888G>T:p.Glu1630Ter	coding	Pathogenic
16	88722301	T	C	T88722301C	PIEZO1	NM_001142864.4(PIEZO1):c.4872A>G:p.Ala1624=	coding	Benign
16	88722307	C	T	C88722307T	PIEZO1	NM_001142864.4(PIEZO1):c.4866G>A:p.Glu1622=	coding	Benign
16	88722588	C	T	C88722588T	PIEZO1	NM_001142864.4(PIEZO1):c.4770G>A:p.Val1590=	coding	Benign
16	88722604	T	C	T88722604C	PIEZO1	NM_001142864.4(PIEZO1):c.4754A>G:p.Asn1585Ser	coding	Benign
16	88722621	G	T	G88722621T	PIEZO1	NM_001142864.4(PIEZO1):c.4737C>A:p.Gly1579=	coding	Benign
16	88722684	G	A	G88722684A	PIEZO1	NM_001142864.4(PIEZO1):c.4674C>T:p.Gly1558=	coding	Benign
16	88722925	C	T	C88722925T	PIEZO1	NM_001142864.4(PIEZO1):c.4580G>A:p.Arg1527His	coding	Benign
16	88723115	C	T	C88723115T	PIEZO1	NM_001142864.4(PIEZO1):c.4475G>A:p.Gly1492Asp	coding	Benign
16	88723137	G	A	G88723137A	PIEZO1	NM_001142864.4(PIEZO1):c.4453C>T:p.Gln1485Ter	coding	Pathogenic
16	88723159	C	A	C88723159A	PIEZO1	NM_001142864.4(PIEZO1):c.4439-8G>T	noncoding	Benign
16	88723279	C	T	C88723279T	PIEZO1	NM_001142864.4(PIEZO1):c.4385G>A:p.Arg1462Gln	coding	Benign
16	88723308	C	G	C88723308G	PIEZO1	NM_001142864.4(PIEZO1):c.4356G>C:p.Val1452=	coding	Benign
16	88725050	G	A	G88725050A	PIEZO1	NM_001142864.4(PIEZO1):c.4193C>T:p.Pro1398Leu	coding	Benign
16	88725505	C	G	C88725505G	PIEZO1	NM_001142864.4(PIEZO1):c.4073G>C:p.Arg1358Pro	coding	Pathogenic
16	88725639	A	G	A88725639G	PIEZO1	NM_001142864.4(PIEZO1):c.4014T>C:p.Phe1338=	coding	Benign
16	88725689	A	G	A88725689G	PIEZO1	NM_001142864.4(PIEZO1):c.3969-5T>C	noncoding	Benign
16	88726324	C	T	C88726324T	PIEZO1	NM_001142864.4(PIEZO1):c.3928G>A:p.Val1310Ile	coding	Benign
16	88726546	C	T	C88726546T	PIEZO1	NM_001142864.4(PIEZO1):c.3796+1G>A	noncoding	Pathogenic
16	88726655	C	A	C88726655A	PIEZO1	NM_001142864.4(PIEZO1):c.3700-12G>T	noncoding	Benign
16	88726968	C	T	C88726968T	PIEZO1	NM_001142864.4(PIEZO1):c.3456-10G>A	noncoding	Benign
16	88726969	G	A	G88726969A	PIEZO1	NM_001142864.4(PIEZO1):c.3456-11C>T	noncoding	Benign
16	88727131	T	C	T88727131C	PIEZO1	NM_001142864.4(PIEZO1):c.3363A>G:p.Thr1121=	coding	Benign
16	88731773	G	A	G88731773A	PIEZO1	NM_001142864.4(PIEZO1):c.3129C>T:p.Leu1043=	coding	Benign
16	88732437	G	C	G88732437C	PIEZO1	NM_001142864.4(PIEZO1):c.2889C>G:p.Ala963=	coding	Benign
16	88732461	C	T	C88732461T	PIEZO1;LOC100289580	NM_001142864.4(PIEZO1):c.2865G>A:p.Gln955=	coding	Benign
16	88732597	T	C	T88732597C	PIEZO1	NM_001142864.4(PIEZO1):c.2790+10A>G	noncoding	Benign
16	88732708	G	A	G88732708A	PIEZO1	NM_001142864.4(PIEZO1):c.2689C>T:p.Leu897=	coding	Benign
16	88732712	G	A	G88732712A	PIEZO1	NM_001142864.4(PIEZO1):c.2685C>T:p.Asn895=	coding	Benign
16	88733287	G	A	G88733287A	PIEZO1	NM_001142864.4(PIEZO1):c.2655C>T:p.Asn885=	coding	Benign
16	88733609	G	A	G88733609A	LOC100289580;PIEZO1	NM_001142864.4(PIEZO1):c.2466C>T:p.Thr822=	coding	Benign
16	88733644	C	A	C88733644A	PIEZO1	NM_001142864.4(PIEZO1):c.2431G>T:p.Glu811Ter	coding	Pathogenic
16	88733714	C	G	C88733714G	PIEZO1	NM_001142864.4(PIEZO1):c.2361G>C:p.Arg787=	coding	Benign
16	88733761	G	A	G88733761A	PIEZO1;LOC100289580	NM_001142864.4(PIEZO1):c.2330-16C>T	noncoding	Benign
16	88733895	G	A	G88733895A	PIEZO1;LOC100289580	NM_001142864.4(PIEZO1):c.2329+11C>T	noncoding	Benign
16	88733972	C	A	C88733972A	PIEZO1	NM_001142864.4(PIEZO1):c.2263G>T:p.Glu755Ter	coding	Pathogenic
16	88734397	G	A	G88734397A	PIEZO1	NM_001142864.4(PIEZO1):c.2139C>T:p.His713=	coding	Benign
16	88734501	C	A	C88734501A	PIEZO1	NM_001142864.4(PIEZO1):c.2035G>T:p.Glu679Ter	coding	Pathogenic
16	88734505	C	T	C88734505T	PIEZO1	NM_001142864.4(PIEZO1):c.2031G>A:p.Val677=	coding	Benign
16	88734531	C	A	C88734531A	PIEZO1	NM_001142864.4(PIEZO1):c.2005G>T:p.Asp669Tyr	coding	Pathogenic
16	88734543	G	A	G88734543A	PIEZO1	NM_001142864.4(PIEZO1):c.1998-5C>T	noncoding	Benign
16	88734548	G	A	G88734548A	PIEZO1	NM_001142864.4(PIEZO1):c.1998-10C>T	noncoding	Benign/Likely_benign
16	88735000	C	T	C88735000T	PIEZO1	NM_001142864.4(PIEZO1):c.1723G>A:p.Val575Met	coding	Benign
16	88735021	G	A	G88735021A	PIEZO1	NM_001142864.4(PIEZO1):c.1702C>T:p.Leu568=	coding	Benign
16	88735049	G	A	G88735049A	PIEZO1	NM_001142864.4(PIEZO1):c.1674C>T:p.Pro558=	coding	Benign
16	88735134	C	T	C88735134T	PIEZO1	NM_001142864.4(PIEZO1):c.1669+1G>A	noncoding	Pathogenic
16	88735148	G	A	G88735148A	PIEZO1	NM_001142864.4(PIEZO1):c.1656C>T:p.Thr552=	coding	Benign
16	88736178	G	T	G88736178T	PIEZO1	NM_001142864.4(PIEZO1):c.1527C>A:p.Thr509=	coding	Benign
16	88736240	G	C	G88736240C	PIEZO1	NM_001142864.4(PIEZO1):c.1465C>G:p.Arg489Gly	coding	Benign
16	88736414	C	T	C88736414T	PIEZO1	NM_001142864.4(PIEZO1):c.1297-6G>A	noncoding	Benign
16	88736632	C	T	C88736632T	PIEZO1	NM_001142864.4(PIEZO1):c.1296+7G>A	noncoding	Benign
16	88736654	C	T	C88736654T	PIEZO1	NM_001142864.4(PIEZO1):c.1281G>A:p.Ala427=	coding	Benign
16	88736671	G	A	G88736671A	PIEZO1	NM_001142864.4(PIEZO1):c.1264C>T:p.Gln422Ter	coding	Pathogenic/Likely_pathogenic
16	88736716	T	C	T88736716C	PIEZO1	NM_001142864.4(PIEZO1):c.1219A>G:p.Arg407Gly	coding	Benign
16	88736736	C	T	C88736736T	PIEZO1	NM_001142864.4(PIEZO1):c.1199G>A:p.Arg400Gln	coding	Benign
16	88736745	G	A	G88736745A	PIEZO1	NM_001142864.4(PIEZO1):c.1196-6C>T	noncoding	Benign
16	88737574	C	G	C88737574G	PIEZO1	NM_001142864.4(PIEZO1):c.1180G>C:p.Val394Leu	coding	Benign
16	88737642	A	C	A88737642C	PIEZO1	NM_001142864.4(PIEZO1):c.1112T>G:p.Val371Gly	coding	Benign
16	88737730	G	A	G88737730A	PIEZO1	NM_001142864.4(PIEZO1):c.1105C>T:p.Gln369Ter	coding	Pathogenic
16	88737763	G	A	G88737763A	PIEZO1	NM_001142864.4(PIEZO1):c.1072C>T:p.Leu358=	coding	Benign
16	88737941	G	T	G88737941T	PIEZO1;LOC100289580	NM_001142864.4(PIEZO1):c.1013C>A:p.Ser338Tyr	coding	Benign
16	88737956	C	T	C88737956T	PIEZO1	NM_001142864.4(PIEZO1):c.998G>A:p.Arg333His	coding	Benign
16	88737957	G	A	G88737957A	PIEZO1	NM_001142864.4(PIEZO1):c.997C>T:p.Arg333Cys	coding	Benign
16	88737969	G	C	G88737969C	PIEZO1	NM_001142864.4(PIEZO1):c.985C>G:p.Leu329Val	coding	Benign
16	88738240	C	T	C88738240T	PIEZO1	NM_001142864.4(PIEZO1):c.835G>A:p.Gly279Ser	coding	Benign
16	88738289	G	T	G88738289T	PIEZO1	NM_001142864.4(PIEZO1):c.786C>A:p.Cys262Ter	coding	Pathogenic
16	88738326	A	G	A88738326G	PIEZO1	NM_001142864.4(PIEZO1):c.749T>C:p.Val250Ala	coding	Benign
16	88738327	C	T	C88738327T	PIEZO1	NM_001142864.4(PIEZO1):c.748G>A:p.Val250Ile	coding	Benign
16	88738357	T	C	T88738357C	PIEZO1	NM_001142864.4(PIEZO1):c.718A>G:p.Ile240Val	coding	Benign/Likely_benign
16	88738409	G	A	G88738409A	PIEZO1	NM_001142864.4(PIEZO1):c.666C>T:p.Val222=	coding	Benign
16	88738448	G	A	G88738448A	PIEZO1	NM_001142864.4(PIEZO1):c.635-8C>T	noncoding	Benign
16	88738575	T	C	T88738575C	PIEZO1	NM_001142864.4(PIEZO1):c.627A>G:p.Ala209=	coding	Benign
16	88738614	C	A	C88738614A	PIEZO1;LOC100289580	NM_001142864.4(PIEZO1):c.588G>T:p.Leu196=	coding	Benign
16	88738647	G	A	G88738647A	PIEZO1	NM_001142864.4(PIEZO1):c.555C>T:p.Ala185=	coding	Benign
16	88741470	G	A	G88741470A	PIEZO1	NM_001142864.4(PIEZO1):c.465+8C>T	noncoding	Benign
16	88741488	G	A	G88741488A	PIEZO1	NM_001142864.4(PIEZO1):c.455C>T:p.Pro152Leu	coding	Benign
16	88742099	C	T	C88742099T	PIEZO1	NM_001142864.4(PIEZO1):c.284-4G>A	noncoding	Benign
16	88742320	T	C	T88742320C	PIEZO1	NM_001142864.4(PIEZO1):c.263A>G:p.Asp88Gly	coding	Benign
16	88742335	A	G	A88742335G	PIEZO1	NM_001142864.4(PIEZO1):c.248T>C:p.Ile83Thr	coding	Benign
16	88749412	G	A	G88749412A	PIEZO1	NM_001142864.4(PIEZO1):c.132C>T:p.Phe44=	coding	Benign
16	88784889	C	A	C88784889A	PIEZO1	NM_001142864.4(PIEZO1):c.64+12G>T	noncoding	Benign
16	88784902	A	C	A88784902C	PIEZO1	NM_001142864.4(PIEZO1):c.63T>G:p.Ala21=	coding	Benign
16	88803846	C	A	C88803846A	CDT1	NM_030928.4(CDT1):c.15C>A:p.Arg5=	coding	Benign
16	88803906	G	T	G88803906T	CDT1	NM_030928.4(CDT1):c.75G>T:p.Leu25=	coding	Benign/Likely_benign
16	88803942	C	T	C88803942T	CDT1	NM_030928.4(CDT1):c.111C>T:p.Leu37=	coding	Benign
16	88803961	A	C	A88803961C	CDT1	NM_030928.4(CDT1):c.130A>C:p.Thr44Pro	coding	Benign
16	88804016	C	T	C88804016T	CDT1	NM_030928.4(CDT1):c.185C>T:p.Ala62Val	coding	Benign
16	88804027	G	A	G88804027A	CDT1	NM_030928.4(CDT1):c.196G>A:p.Ala66Thr	coding	Pathogenic
16	88804559	T	C	T88804559C	CDT1	NM_030928.4(CDT1):c.243T>C:p.Ser81=	coding	Benign
16	88804564	C	T	C88804564T	CDT1	NM_030928.4(CDT1):c.248C>T:p.Pro83Leu	coding	Benign
16	88804568	G	A	G88804568A	CDT1	NM_030928.4(CDT1):c.252G>A:p.Glu84=	coding	Benign
16	88804608	A	G	A88804608G	CDT1	NM_030928.4(CDT1):c.292A>G:p.Ile98Val	coding	Benign
16	88804814	C	T	C88804814T	CDT1	NM_030928.4(CDT1):c.404C>T:p.Ala135Val	coding	Benign
16	88804845	G	A	G88804845A	CDT1	NM_030928.4(CDT1):c.435G>A:p.Gln145=	coding	Benign
16	88804875	C	T	C88804875T	CDT1	NM_030928.4(CDT1):c.465C>T:p.Ala155=	coding	Benign
16	88805500	A	G	A88805500G	CDT1	NM_030928.4(CDT1):c.549A>G:p.Gly183=	coding	Benign
16	88805737	T	C	T88805737C	CDT1	NM_030928.4(CDT1):c.700T>C:p.Cys234Arg	coding	Benign
16	88805775	C	T	C88805775T	CDT1	NM_030928.4(CDT1):c.738C>T:p.Ser246=	coding	Benign/Likely_benign
16	88805805	C	T	C88805805T	CDT1	NM_030928.4(CDT1):c.768C>T:p.Pro256=	coding	Benign
16	88805821	A	G	A88805821G	CDT1	NM_030928.4(CDT1):c.784A>G:p.Thr262Ala	coding	Benign
16	88805870	G	A	G88805870A	CDT1	NM_030928.4(CDT1):c.832+1G>A	coding	Pathogenic/Likely_pathogenic
16	88806103	T	C	T88806103C	CDT1	NM_030928.4(CDT1):c.915T>C:p.His305=	coding	Benign
16	88806134	C	T	C88806134T	CDT1	NM_030928.4(CDT1):c.933+13C>T	noncoding	Benign
16	88807047	G	A	G88807047A	CDT1	NM_030928.4(CDT1):c.1123-4G>A	noncoding	Benign
16	88807107	G	C	G88807107C	CDT1	NM_030928.4(CDT1):c.1179G>C:p.Gly393=	coding	Benign
16	88807149	G	A	G88807149A	CDT1	NM_030928.4(CDT1):c.1221G>A:p.Pro407=	coding	Benign
16	88807372	A	C	A88807372C	CDT1	NM_030928.4(CDT1):c.1367A>C:p.Glu456Ala	coding	Benign
16	88807382	C	T	C88807382T	CDT1	NM_030928.4(CDT1):c.1377C>T:p.Arg459=	coding	Benign
16	88807407	G	A	G88807407A	CDT1	NM_030928.4(CDT1):c.1402G>A:p.Glu468Lys	coding	Pathogenic
16	88807477	G	A	G88807477A	CDT1	NM_030928.4(CDT1):c.1472G>A:p.Ser491Asn	coding	Benign
16	88808137	G	T	G88808137T	CDT1	NM_030928.4(CDT1):c.1500G>T:p.Leu500=	coding	Benign
16	88808144	T	G	T88808144G	CDT1	NM_030928.4(CDT1):c.1507T>G:p.Ser503Ala	coding	Benign
16	88808158	G	A	G88808158A	CDT1	NM_030928.4(CDT1):c.1521G>A:p.Pro507=	coding	Benign
16	88808197	C	G	C88808197G	CDT1	NM_030928.4(CDT1):c.1560C>G:p.Tyr520Ter	coding	Pathogenic
16	88808218	G	A	G88808218A	CDT1	NM_030928.4(CDT1):c.1581G>A:p.Ala527=	coding	Benign
16	88808224	C	G	C88808224G	CDT1	NM_030928.4(CDT1):c.1587C>G:p.Leu529=	coding	Benign
16	88808247	C	T	C88808247T	CDT1	NM_030928.4(CDT1):c.1610C>T:p.Ala537Val	coding	Benign
16	88808284	G	C	G88808284C	CDT1	NM_030928.4(CDT1):c.*6G>C	noncoding	Benign
16	88809520	T	C	T88809520C	APRT;GALNS	NM_000485.3(APRT):c.*178A>G	noncoding	Benign
16	88809699	C	G	C88809699G	APRT	NM_000485.3(APRT):c.542G>C:p.Ter181Ser	coding	Pathogenic
16	88809793	C	A	C88809793A	APRT	NM_000485.3(APRT):c.448G>T:p.Val150Phe	coding	Pathogenic
16	88809834	A	G	A88809834G	APRT	NM_000485.3(APRT):c.407T>C:p.Met136Thr	coding	Pathogenic
16	88810141	A	G	A88810141G	APRT	NM_000485.3(APRT):c.329T>C:p.Leu110Pro	coding	Pathogenic
16	88810450	C	T	C88810450T	APRT	NM_000485.3(APRT):c.294G>A:p.Trp98Ter	coding	Pathogenic
16	88810478	C	T	C88810478T	APRT	NM_000485.3(APRT):c.266G>A:p.Arg89Gln	coding	Benign
16	88810550	T	A	T88810550A	APRT	NM_000485.3(APRT):c.194A>T:p.Asp65Val	coding	Pathogenic
16	88811575	G	A	G88811575A	APRT	NM_000485.3(APRT):c.162C>T:p.His54=	coding	Benign/Likely_benign
16	88811647	C	A	C88811647A	APRT;GALNS	NM_000485.3(APRT):c.90G>T:p.Ser30=	coding	Benign/Likely_benign
16	88814215	G	C	G88814215C	APRT;GALNS	NM_000512.5(GALNS):c.*224C>G	noncoding	Benign/Likely_benign
16	88814403	C	T	C88814403T	APRT;GALNS	NM_000512.5(GALNS):c.*36G>A	noncoding	Benign
16	88814449	C	T	C88814449T	GALNS	NM_000512.5(GALNS):c.1559G>A:p.Trp520Ter	coding	Pathogenic
16	88814523	G	C	G88814523C	GALNS	NM_000512.5(GALNS):c.1485C>G:p.Asn495Lys	coding	Pathogenic
16	88814557	C	G	C88814557G	GALNS	NM_000512.5(GALNS):c.1483-32G>C	noncoding	Benign
16	88818015	C	T	C88818015T	GALNS	NM_000512.5(GALNS):c.1474G>A:p.Ala492Thr	coding	Pathogenic
16	88818027	C	T	C88818027T	GALNS	NM_000512.5(GALNS):c.1462G>A:p.Val488Met	coding	Benign
16	88818029	T	C	T88818029C	GALNS	NM_000512.5(GALNS):c.1460A>G:p.Asn487Ser	coding	Pathogenic
16	88818046	G	A	G88818046A	GALNS	NM_000512.5(GALNS):c.1443C>T:p.Pro481=	coding	Benign/Likely_benign
16	88818051	C	A	C88818051A	GALNS	NM_000512.5(GALNS):c.1438G>T:p.Val480Phe	coding	Benign
16	88818058	C	T	C88818058T	GALNS	NM_000512.5(GALNS):c.1431G>A:p.Glu477=	coding	Benign
16	88818072	G	A	G88818072A	GALNS	NM_000512.5(GALNS):c.1417C>T:p.Gln473Ter	coding	Pathogenic
16	88818076	G	A	G88818076A	GALNS	NM_000512.5(GALNS):c.1413C>T:p.Val471=	coding	Benign
16	88818113	G	A	G88818113A	GALNS	NM_000512.5(GALNS):c.1376C>T:p.Ala459Val	coding	Benign
16	88818401	A	G	A88818401G	GALNS	NM_000512.5(GALNS):c.1365-277T>C	noncoding	Benign
16	88818405	T	C	T88818405C	GALNS	NM_000512.5(GALNS):c.1365-281A>G	noncoding	Benign
16	88818409	C	T	C88818409T	GALNS	NM_000512.5(GALNS):c.1365-285G>A	noncoding	Benign
16	88822588	C	T	C88822588T	GALNS	NM_000512.5(GALNS):c.1364+1G>A	noncoding	Pathogenic
16	88822675	C	A	C88822675A	GALNS	NM_000512.5(GALNS):c.1278G>T:p.Gly426=	coding	Benign
16	88824781	C	A	C88824781A	GALNS	NM_000512.5(GALNS):c.1228G>T:p.Glu410Ter	coding	Pathogenic
16	88824832	C	A	C88824832A	GALNS	NM_000512.5(GALNS):c.1177G>T:p.Ala393Ser	coding	Benign
16	88824834	G	A	G88824834A	GALNS	NM_000512.5(GALNS):c.1175C>T:p.Ala392Val	coding	Pathogenic
16	88824838	T	C	T88824838C	GALNS	NM_000512.5(GALNS):c.1171A>G:p.Met391Val	coding	Pathogenic
16	88824845	G	T	G88824845T	GALNS	NM_000512.5(GALNS):c.1164C>A:p.Asp388Glu	coding	Pathogenic
16	88824853	G	A	G88824853A	GALNS	NM_000512.5(GALNS):c.1156C>T:p.Arg386Cys	coding	Pathogenic/Likely_pathogenic
16	88826605	C	G	C88826605G	GALNS	NM_000512.5(GALNS):c.1139+97G>C	noncoding	Benign
16	88826701	C	T	C88826701T	GALNS	NM_000512.5(GALNS):c.1139+1G>A	noncoding	Pathogenic
16	88826822	C	T	C88826822T	GALNS	NM_000512.5(GALNS):c.1019G>A:p.Gly340Asp	coding	Pathogenic
16	88827008	A	G	A88827008G	GALNS	NM_000512.5(GALNS):c.1003-170T>C	noncoding	Benign
16	88831981	G	A	G88831981A	GALNS	NM_000512.5(GALNS):c.1002+17C>T	noncoding	Benign
16	88832000	G	A	G88832000A	GALNS	NM_000512.5(GALNS):c.1000C>T:p.Gln334Ter	coding	Pathogenic
16	88832047	A	C	A88832047C	GALNS	NM_000512.5(GALNS):c.953T>G:p.Met318Arg	coding	Pathogenic
16	88832048	T	C	T88832048C	GALNS	NM_000512.5(GALNS):c.952A>G:p.Met318Val	coding	Pathogenic
16	88832065	G	C	G88832065C	GALNS	NM_000512.5(GALNS):c.935C>G:p.Thr312Ser	coding	Pathogenic
16	88832099	C	A	C88832099A	GALNS	NM_000512.5(GALNS):c.901G>T:p.Gly301Cys	coding	Pathogenic
16	88832103	T	G	T88832103G	GALNS	NM_000512.5(GALNS):c.899-2A>C	noncoding	Pathogenic
16	88832105	G	C	G88832105C	GALNS	NM_000512.5(GALNS):c.899-4C>G	noncoding	Benign
16	88835171	C	G	C88835171G	GALNS	NM_000512.5(GALNS):c.898+42G>C	noncoding	Benign
16	88835188	G	C	G88835188C	GALNS	NM_000512.5(GALNS):c.898+25C>G	noncoding	Benign
16	88835212	C	G	C88835212G	GALNS	NM_000512.5(GALNS):c.898+1G>C	noncoding	Pathogenic
16	88835212	C	T	C88835212T	GALNS	NM_000512.5(GALNS):c.898+1G>A	noncoding	Pathogenic
16	88835240	C	A	C88835240A	GALNS	NM_000512.5(GALNS):c.871G>T:p.Ala291Ser	coding	Pathogenic
16	88835240	C	T	C88835240T	GALNS	NM_000512.5(GALNS):c.871G>A:p.Ala291Thr	coding	Pathogenic
16	88835251	G	A	G88835251A	GALNS	NM_000512.5(GALNS):c.860C>T:p.Ser287Leu	coding	Pathogenic
16	88835265	G	A	G88835265A	GALNS	NM_000512.5(GALNS):c.846C>T:p.Phe282=	coding	Benign
16	88835335	C	T	C88835335T	GALNS	NM_000512.5(GALNS):c.776G>A:p.Arg259Gln	coding	Pathogenic
16	88835336	G	T	G88835336T	GALNS	NM_000512.5(GALNS):c.775C>A:p.Arg259=	coding	Benign/Likely_benign
16	88835442	T	A	T88835442A	GALNS	NM_000512.5(GALNS):c.759-90A>T	noncoding	Benign
16	88835703	G	A	G88835703A	GALNS	NM_000512.5(GALNS):c.758+22C>T	noncoding	Benign
16	88835760	G	A	G88835760A	GALNS	NM_000512.5(GALNS):c.723C>T:p.Ala241=	coding	Benign/Likely_benign
16	88835775	G	A	G88835775A	GALNS	NM_000512.5(GALNS):c.708C>T:p.His236=	coding	Benign
16	88835791	G	C	G88835791C	GALNS	NM_000512.5(GALNS):c.692C>G:p.Ala231Gly	coding	Benign
16	88835794	C	T	C88835794T	GALNS	NM_000512.5(GALNS):c.689G>A:p.Trp230Ter	coding	Pathogenic
16	88835868	C	T	C88835868T	GALNS	NM_000512.5(GALNS):c.634-19G>A	noncoding	Benign
16	88835869	G	A	G88835869A	GALNS	NM_000512.5(GALNS):c.634-20C>T	noncoding	Benign
16	88836222	G	C	G88836222C	GALNS	NM_000512.5(GALNS):c.612C>G:p.Asn204Lys	coding	Pathogenic
16	88836235	G	A	G88836235A	GALNS	NM_000512.5(GALNS):c.599C>T:p.Thr200Met	coding	Benign
16	88836372	A	G	A88836372G	GALNS	NM_000512.5(GALNS):c.567-105T>C	noncoding	Benign
16	88836412	T	C	T88836412C	GALNS	NM_000512.5(GALNS):c.567-145A>G	noncoding	Benign
16	88837388	C	A	C88837388A	GALNS	NM_000512.5(GALNS):c.566+234G>T	noncoding	Benign
16	88837488	C	T	C88837488T	GALNS	NM_000512.5(GALNS):c.566+134G>A	noncoding	Benign
16	88837592	G	A	G88837592A	GALNS	NM_000512.5(GALNS):c.566+30C>T	noncoding	Benign
16	88837612	G	A	G88837612A	GALNS	NM_000512.5(GALNS):c.566+10C>T	noncoding	Benign
16	88837617	A	G	A88837617G	GALNS	NM_000512.5(GALNS):c.566+5T>C	noncoding	Benign
16	88837646	T	C	T88837646C	GALNS	NM_000512.5(GALNS):c.542A>G:p.Tyr181Cys	coding	Pathogenic
16	88837678	A	G	A88837678G	GALNS	NM_000512.5(GALNS):c.510T>C:p.Tyr170=	coding	Benign
16	88837690	G	C	G88837690C	GALNS	NM_000512.5(GALNS):c.498C>G:p.His166Gln	coding	Pathogenic
16	88837697	T	G	T88837697G	GALNS	NM_000512.5(GALNS):c.491A>C:p.Asn164Thr	coding	Pathogenic
16	88837703	G	A	G88837703A	GALNS	NM_000512.5(GALNS):c.485C>T:p.Ser162Phe	coding	Pathogenic
16	88837711	C	T	C88837711T	GALNS	NM_000512.5(GALNS):c.477G>A:p.Trp159Ter	coding	Pathogenic
16	88837725	C	T	C88837725T	GALNS	NM_000512.5(GALNS):c.463G>A:p.Gly155Arg	coding	Pathogenic
16	88837736	G	A	G88837736A	GALNS	NM_000512.5(GALNS):c.452C>T:p.Pro151Leu	coding	Pathogenic/Likely_pathogenic
16	88838018	C	T	C88838018T	GALNS	NM_000512.5(GALNS):c.423-253G>A	noncoding	Benign
16	88840875	G	T	G88840875T	GALNS	NM_000512.5(GALNS):c.422+117C>A	noncoding	Benign
16	88840993	A	T	A88840993T	GALNS	NM_000512.5(GALNS):c.421T>A:p.Trp141Arg	coding	Pathogenic/Likely_pathogenic
16	88840999	C	T	C88840999T	GALNS	NM_000512.5(GALNS):c.415G>A:p.Gly139Ser	coding	Pathogenic/Likely_pathogenic
16	88841001	A	G	A88841001G	GALNS	NM_000512.4(GALNS):c.413T>C:p.Val138Ala	coding	Pathogenic
16	88841055	G	A	G88841055A	GALNS	NM_000512.5(GALNS):c.359C>T:p.Ser120Leu	coding	Benign
16	88841068	C	T	C88841068T	GALNS	NM_000512.5(GALNS):c.346G>A:p.Gly116Ser	coding	Pathogenic
16	88841077	T	A	T88841077A	GALNS	NM_000512.5(GALNS):c.337A>T:p.Ile113Phe	coding	Pathogenic
16	88841083	G	A	G88841083A	GALNS	NM_000512.5(GALNS):c.331C>T:p.Gln111Ter	coding	Pathogenic
16	88841436	C	T	C88841436T	GALNS	NM_000512.5(GALNS):c.320-342G>A	noncoding	Benign
16	88841898	G	A	G88841898A	GALNS	NM_000512.5(GALNS):c.318C>T:p.Asn106=	coding	Benign
16	88841936	G	A	G88841936A	GALNS	NM_000512.5(GALNS):c.280C>T:p.Arg94Cys	coding	Pathogenic
16	88841936	G	C	G88841936C	GALNS	NM_000512.5(GALNS):c.280C>G:p.Arg94Gly	coding	Pathogenic
16	88841948	G	A	G88841948A	GALNS	NM_000512.5(GALNS):c.268C>T:p.Arg90Trp	coding	Pathogenic
16	88842620	C	T	C88842620T	GALNS	NM_000512.5(GALNS):c.244+86G>A	noncoding	Benign
16	88842657	G	A	G88842657A	GALNS	NM_000512.5(GALNS):c.244+49C>T	noncoding	Benign
16	88842687	G	A	G88842687A	GALNS	NM_000512.5(GALNS):c.244+19C>T	noncoding	Benign
16	88842710	C	T	C88842710T	GALNS	NM_000512.5(GALNS):c.240G>A:p.Ser80=	coding	Benign/Likely_benign
16	88842711	G	A	G88842711A	GALNS	NM_000512.5(GALNS):c.239C>T:p.Ser80Leu	coding	Pathogenic/Likely_pathogenic
16	88842720	G	C	G88842720C	GALNS	NM_000512.5(GALNS):c.230C>G:p.Pro77Arg	coding	Pathogenic/Likely_pathogenic
16	88842745	A	C	A88842745C	GALNS	NM_000512.5(GALNS):c.205T>G:p.Phe69Val	coding	Pathogenic
16	88842751	G	T	G88842751T	GALNS	NM_000512.5(GALNS):c.199C>A:p.Leu67Met	coding	Benign
16	88842772	C	T	C88842772T	GALNS	NM_000512.5(GALNS):c.178G>A:p.Asp60Asn	coding	Pathogenic
16	88842811	C	T	C88842811T	GALNS	NM_000512.5(GALNS):c.139G>A:p.Gly47Arg	coding	Pathogenic/Likely_pathogenic
16	88842828	A	T	A88842828T	GALNS	NM_000512.5(GALNS):c.122T>A:p.Met41Lys	coding	Pathogenic
16	88842831	T	C	T88842831C	GALNS	NM_000512.5(GALNS):c.121-2A>G	noncoding	Pathogenic
16	88855226	C	G	C88855226G	GALNS	NM_000512.5(GALNS):c.120+1532G>C	noncoding	Benign
16	88856757	C	G	C88856757G	GALNS	NM_000512.5(GALNS):c.120+1G>C	noncoding	Pathogenic
16	88856945	G	A	G88856945A	GALNS	NM_000512.5(GALNS):c.-68C>T	noncoding	Benign
16	88858694	G	T	G88858694T	TRAPPC2L	NM_001318526.2(TRAPPC2L):c.-10G>T	coding	Pathogenic
16	88879330	C	T	C88879330T	CBFA2T3	NM_005187.6(CBFA2T3):c.1602G>A:p.Ala534=	coding	Benign
16	89098577	A	G	A89098577G	ACSF3	NM_001243279.3(ACSF3):c.-193-14A>G	noncoding	Benign
16	89100682	A	G	A89100682G	ACSF3	NM_001243279.3(ACSF3):c.1A>G:p.Met1Val	coding	Pathogenic
16	89100686	T	C	T89100686C	ACSF3	NM_001243279.3(ACSF3):c.5T>C:p.Leu2Pro	coding	Benign
16	89100730	G	C	G89100730C	ACSF3	NM_001243279.3(ACSF3):c.49G>C:p.Ala17Pro	coding	Benign
16	89100732	G	C	G89100732C	ACSF3	NM_001243279.3(ACSF3):c.51G>C:p.Ala17=	coding	Benign
16	89100801	G	A	G89100801A	ACSF3	NM_001243279.3(ACSF3):c.120G>A:p.Ser40=	coding	Benign
16	89100966	G	A	G89100966A	ACSF3	NM_001243279.3(ACSF3):c.285G>A:p.Glu95=	coding	Benign/Likely_benign
16	89100967	G	T	G89100967T	ACSF3	NM_001243279.3(ACSF3):c.286G>T:p.Glu96Ter	coding	Pathogenic
16	89100978	C	T	C89100978T	ACSF3	NM_001243279.3(ACSF3):c.297C>T:p.Ser99=	coding	Benign
16	89100987	C	T	C89100987T	ACSF3	NM_001243279.3(ACSF3):c.306C>T:p.Cys102=	coding	Benign
16	89100996	T	C	T89100996C	ACSF3	NM_001243279.3(ACSF3):c.315T>C:p.Asp105=	coding	Benign
16	89101023	G	C	G89101023C	ACSF3	NM_001243279.3(ACSF3):c.342G>C:p.Ala114=	coding	Benign
16	89101035	T	C	T89101035C	ACSF3	NM_001243279.3(ACSF3):c.354T>C:p.Ser118=	coding	Benign
16	89101050	C	A	C89101050A	ACSF3	NM_001243279.3(ACSF3):c.369C>A:p.Val123=	coding	Benign
16	89101089	T	G	T89101089G	ACSF3	NM_001243279.3(ACSF3):c.408T>G:p.Tyr136Ter	coding	Pathogenic
16	89101092	C	T	C89101092T	ACSF3	NM_001243279.3(ACSF3):c.411C>T:p.Val137=	coding	Benign/Likely_benign
16	89101105	C	T	C89101105T	ACSF3	NM_001243279.3(ACSF3):c.424C>T:p.Gln142Ter	coding	Pathogenic
16	89101132	G	T	G89101132T	ACSF3	NM_001243279.3(ACSF3):c.451G>T:p.Glu151Ter	coding	Pathogenic
16	89101260	G	A	G89101260A	ACSF3	NM_001243279.3(ACSF3):c.579G>A:p.Arg193=	coding	Benign
16	89101270	G	A	G89101270A	ACSF3	NM_001243279.3(ACSF3):c.589G>A:p.Ala197Thr	coding	Pathogenic
16	89101274	T	G	T89101274G	ACSF3	NM_001243279.3(ACSF3):c.593T>G:p.Met198Arg	coding	Pathogenic
16	89101281	C	G	C89101281G	ACSF3	NM_001243279.3(ACSF3):c.600C>G:p.Ile200Met	coding	Benign/Likely_benign
16	89101314	C	T	C89101314T	ACSF3	NM_001243279.3(ACSF3):c.633C>T:p.Gly211=	coding	Benign
16	89102592	C	T	C89102592T	ACSF3	NM_001243279.3(ACSF3):c.667-12C>T	noncoding	Benign
16	89102626	G	A	G89102626A	ACSF3	NM_001243279.3(ACSF3):c.689G>A:p.Trp230Ter	coding	Pathogenic
16	89102627	G	A	G89102627A	ACSF3	NM_001243279.3(ACSF3):c.690G>A:p.Trp230Ter	coding	Pathogenic
16	89102665	C	T	C89102665T	ACSF3	NM_001243279.3(ACSF3):c.728C>T:p.Pro243Leu	coding	Pathogenic
16	89102718	G	T	G89102718T	ACSF3	NM_001243279.3(ACSF3):c.781G>T:p.Gly261Ter	coding	Pathogenic
16	89112066	T	C	T89112066C	ACSF3	NM_001243279.3(ACSF3):c.823-26T>C	noncoding	Benign
16	89112086	T	C	T89112086C	ACSF3	NM_001243279.3(ACSF3):c.823-6T>C	noncoding	Benign
16	89112096	G	A	G89112096A	ACSF3	NM_001243279.3(ACSF3):c.827G>A:p.Trp276Ter	coding	Pathogenic
16	89112097	G	A	G89112097A	ACSF3	NM_001243279.3(ACSF3):c.828G>A:p.Trp276Ter	coding	Pathogenic
16	89112121	G	A	G89112121A	ACSF3	NM_001243279.3(ACSF3):c.852G>A:p.Thr284=	coding	Benign/Likely_benign
16	89112123	C	T	C89112123T	ACSF3	NM_001243279.3(ACSF3):c.854C>T:p.Pro285Leu	coding	Benign
16	89114357	A	T	A89114357T	ACSF3	NM_001243279.3(ACSF3):c.996A>T:p.Ser332=	coding	Benign
16	89114434	C	T	C89114434T	ACSF3	NM_001243279.3(ACSF3):c.1073C>T:p.Thr358Ile	coding	Pathogenic
16	89114491	C	T	C89114491T	ACSF3	NM_001243279.3(ACSF3):c.1126+4C>T	noncoding	Benign
16	89120805	C	T	C89120805T	ACSF3	NM_001243279.3(ACSF3):c.1131C>T:p.Ser377=	coding	Benign/Likely_benign
16	89120808	G	A	G89120808A	ACSF3	NM_001243279.3(ACSF3):c.1134G>A:p.Val378=	coding	Benign
16	89133196	C	T	C89133196T	ACSF3	NM_001243279.3(ACSF3):c.1300C>T:p.Arg434Ter	coding	Pathogenic
16	89133206	G	A	G89133206A	ACSF3	NM_001243279.3(ACSF3):c.1310G>A:p.Trp437Ter	coding	Pathogenic
16	89145254	C	G	C89145254G	ACSF3	NM_001243279.3(ACSF3):c.1367-13C>G	coding	Benign
16	89145261	C	T	C89145261T	ACSF3	NM_001243279.3(ACSF3):c.1367-6C>T	coding	Benign
16	89145298	C	T	C89145298T	ACSF3	NM_001243279.3(ACSF3):c.1398C>T:p.Tyr466=	coding	Benign
16	89145305	C	T	C89145305T	ACSF3	NM_001243279.3(ACSF3):c.1405C>T:p.Arg469Ter	coding	Pathogenic/Likely_pathogenic
16	89145312	G	A	G89145312A	ACSF3	NM_001243279.3(ACSF3):c.1412G>A:p.Arg471Gln	coding	Pathogenic
16	89145367	G	C	G89145367C	ACSF3	NM_001243279.3(ACSF3):c.1467G>C:p.Val489=	coding	Benign/Likely_benign
16	89145936	A	G	A89145936G	ACSF3	NM_001243279.3(ACSF3):c.1502-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	89145971	G	A	G89145971A	ACSF3	NM_001243279.3(ACSF3):c.1535G>A:p.Trp512Ter	coding	Pathogenic
16	89146003	C	T	C89146003T	ACSF3	NM_001243279.3(ACSF3):c.1567C>T:p.Arg523Ter	coding	Pathogenic
16	89146044	G	A	G89146044A	ACSF3	NM_001243279.3(ACSF3):c.1608G>A:p.Trp536Ter	coding	Pathogenic/Likely_pathogenic
16	89154148	C	T	C89154148T	ACSF3	NM_001243279.3(ACSF3):c.1672C>T:p.Arg558Trp	coding	Pathogenic/Likely_pathogenic
16	89179526	G	A	G89179526A	CDH15	NM_004933.3(CDH15):c.153G>A:p.Pro51=	coding	Benign
16	89180229	C	T	C89180229T	CDH15	NM_004933.3(CDH15):c.231C>T:p.Ser77=	coding	Benign
16	89180253	C	T	C89180253T	CDH15	NM_004933.3(CDH15):c.255C>T:p.Pro85=	coding	Benign
16	89183577	A	G	A89183577G	CDH15	NM_004933.3(CDH15):c.387A>G:p.Gly129=	coding	Benign
16	89185268	G	A	G89185268A	CDH15	NM_004933.3(CDH15):c.598G>A:p.Glu200Lys	coding	Benign
16	89185285	C	T	C89185285T	CDH15	NM_004933.3(CDH15):c.615C>T:p.Asp205=	coding	Benign
16	89187483	C	T	C89187483T	CDH15	NM_004933.3(CDH15):c.718C>T:p.Leu240Phe	coding	Benign
16	89187564	C	T	C89187564T	CDH15	NM_004933.3(CDH15):c.792+7C>T	noncoding	Benign
16	89190359	T	C	T89190359C	CDH15	NM_004933.3(CDH15):c.1095T>C:p.His365=	coding	Benign
16	89191689	C	T	C89191689T	CDH15	NM_004933.3(CDH15):c.1410C>T:p.Ser470=	coding	Benign
16	89192339	A	C	A89192339C	CDH15	NM_004933.3(CDH15):c.1750A>C:p.Lys584Gln	coding	Benign
16	89193490	C	T	C89193490T	CDH15	NM_004933.3(CDH15):c.1876C>T:p.Leu626Phe	coding	Benign/Likely_benign
16	89193787	G	A	G89193787A	CDH15	NM_004933.3(CDH15):c.2025G>A:p.Pro675=	coding	Benign
16	89193908	A	G	A89193908G	CDH15	NM_004933.3(CDH15):c.2146A>G:p.Asn716Asp	coding	Benign
16	89195063	G	A	G89195063A	CDH15	NM_004933.3(CDH15):c.2353G>A:p.Gly785Arg	coding	Benign
16	89224749	A	G	A89224749G	ZNF778	NM_001201407.1(ZNF778):c.275A>G:p.Tyr92Cys	coding	Benign
16	89227116	C	T	C89227116T	ZNF778	NM_182531.4(ZNF778):c.744C>T:p.Ala248=	coding	Benign
16	89227872	C	T	C89227872T	ZNF778	NM_182531.4(ZNF778):c.1500C>T:p.Thr500=	coding	Benign
16	89268631	G	C	G89268631C	ANKRD11	NM_013275.6(ANKRD11):c.7839C>G:p.Ala2613=	coding	Benign/Likely_benign
16	89268645	G	A	G89268645A	ANKRD11	NM_013275.6(ANKRD11):c.7825C>T:p.Gln2609Ter	coding	Pathogenic
16	89270911	T	C	T89270911C	ANKRD11	NM_013275.6(ANKRD11):c.7714-2A>G	noncoding	Pathogenic
16	89274816	G	A	G89274816A	ANKRD11	NM_013275.6(ANKRD11):c.7711C>T:p.Gln2571Ter	coding	Pathogenic
16	89274904	C	T	C89274904T	ANKRD11	NM_013275.6(ANKRD11):c.7623G>A:p.Ala2541=	coding	Benign
16	89274956	T	C	T89274956C	ANKRD11	NM_013275.6(ANKRD11):c.7571A>G:p.Glu2524Gly	coding	Pathogenic
16	89274958	C	G	C89274958G	ANKRD11	NM_013275.6(ANKRD11):c.7570-1G>C	coding	Pathogenic
16	89274958	C	T	C89274958T	ANKRD11	NM_013275.6(ANKRD11):c.7570-1G>A	coding	Pathogenic
16	89275092	C	T	C89275092T	ANKRD11	NM_013275.6(ANKRD11):c.7569+1G>A	noncoding	Pathogenic
16	89275110	G	A	G89275110A	ANKRD11	NM_013275.6(ANKRD11):c.7552C>T:p.Gln2518Ter	coding	Pathogenic
16	89275127	C	T	C89275127T	ANKRD11	NM_013275.6(ANKRD11):c.7535G>A:p.Arg2512Gln	coding	Pathogenic/Likely_pathogenic
16	89275193	T	C	T89275193C	ANKRD11	NM_013275.6(ANKRD11):c.7471-2A>G	noncoding	Pathogenic
16	89279188	G	C	G89279188C	ANKRD11	NM_013275.6(ANKRD11):c.7354C>G:p.Arg2452Gly	coding	Pathogenic
16	89279215	G	A	G89279215A	ANKRD11	NM_013275.6(ANKRD11):c.7327C>T:p.Gln2443Ter	coding	Pathogenic
16	89279308	G	A	G89279308A	ANKRD11	NM_013275.6(ANKRD11):c.7234C>T:p.Gln2412Ter	coding	Pathogenic
16	89279353	G	A	G89279353A	ANKRD11	NM_013275.6(ANKRD11):c.7189C>T:p.Gln2397Ter	coding	Pathogenic
16	89279359	G	A	G89279359A	ANKRD11	NM_013275.6(ANKRD11):c.7183C>T:p.Gln2395Ter	coding	Pathogenic
16	89279404	G	A	G89279404A	ANKRD11	NM_013275.6(ANKRD11):c.7138C>T:p.Gln2380Ter	coding	Pathogenic
16	89279414	G	C	G89279414C	ANKRD11	NM_013275.6(ANKRD11):c.7128C>G:p.Asp2376Glu	coding	Benign
16	89279565	G	C	G89279565C	ANKRD11	NM_013275.6(ANKRD11):c.6977C>G:p.Ala2326Gly	coding	Benign
16	89279618	G	A	G89279618A	ANKRD11	NM_013275.6(ANKRD11):c.6924C>T:p.Gly2308=	coding	Benign/Likely_benign
16	89279671	C	A	C89279671A	ANKRD11	NM_013275.6(ANKRD11):c.6871G>T:p.Glu2291Ter	coding	Pathogenic
16	89279674	G	A	G89279674A	ANKRD11	NM_013275.6(ANKRD11):c.6868C>T:p.Pro2290Ser	coding	Benign
16	89279695	G	A	G89279695A	ANKRD11	NM_013275.6(ANKRD11):c.6847C>T:p.Gln2283Ter	coding	Pathogenic
16	89279715	G	A	G89279715A	ANKRD11	NM_013275.6(ANKRD11):c.6827C>T:p.Pro2276Leu	coding	Benign
16	89279716	G	A	G89279716A	ANKRD11	NM_013275.6(ANKRD11):c.6826C>T:p.Pro2276Ser	coding	Benign/Likely_benign
16	89279755	G	A	G89279755A	ANKRD11	NM_013275.6(ANKRD11):c.6787C>T:p.Pro2263Ser	coding	Benign
16	89279761	C	T	C89279761T	ANKRD11	NM_013275.6(ANKRD11):c.6781G>A:p.Glu2261Lys	coding	Benign
16	89279782	C	T	C89279782T	ANKRD11	NM_013275.6(ANKRD11):c.6760G>A:p.Gly2254Arg	coding	Benign
16	89279796	C	T	C89279796T	ANKRD11	NM_013275.6(ANKRD11):c.6746G>A:p.Arg2249His	coding	Benign/Likely_benign
16	89279797	G	A	G89279797A	ANKRD11	NM_013275.6(ANKRD11):c.6745C>T:p.Arg2249Cys	coding	Benign/Likely_benign
16	89279800	G	A	G89279800A	ANKRD11	NM_013275.6(ANKRD11):c.6742C>T:p.Gln2248Ter	coding	Pathogenic
16	89279812	C	T	C89279812T	ANKRD11	NM_013275.6(ANKRD11):c.6730G>A:p.Val2244Ile	coding	Benign/Likely_benign
16	89279817	G	A	G89279817A	ANKRD11	NM_013275.6(ANKRD11):c.6725C>T:p.Ala2242Val	coding	Benign/Likely_benign
16	89279872	C	A	C89279872A	ANKRD11	NM_013275.6(ANKRD11):c.6670G>T:p.Glu2224Ter	coding	Pathogenic
16	89279920	A	C	A89279920C	ANKRD11	NM_013275.6(ANKRD11):c.6622T>G:p.Ser2208Ala	coding	Benign
16	89279945	G	C	G89279945C	ANKRD11	NM_013275.6(ANKRD11):c.6597C>G:p.Leu2199=	coding	Benign/Likely_benign
16	89280045	A	C	A89280045C	ANKRD11	NM_013275.6(ANKRD11):c.6497T>G:p.Met2166Arg	coding	Benign
16	89280070	C	A	C89280070A	ANKRD11	NM_013275.6(ANKRD11):c.6472G>T:p.Glu2158Ter	coding	Pathogenic
16	89280112	G	A	G89280112A	ANKRD11	NM_013275.6(ANKRD11):c.6430C>T:p.Gln2144Ter	coding	Pathogenic
16	89280202	G	A	G89280202A	ANKRD11	NM_013275.6(ANKRD11):c.6340C>T:p.Gln2114Ter	coding	Pathogenic
16	89280219	C	T	C89280219T	ANKRD11	NM_013275.6(ANKRD11):c.6323G>A:p.Gly2108Asp	coding	Benign/Likely_benign
16	89280330	G	C	G89280330C	ANKRD11	NM_013275.6(ANKRD11):c.6212C>G:p.Ser2071Ter	coding	Pathogenic
16	89280366	G	T	G89280366T	ANKRD11	NM_013275.6(ANKRD11):c.6176C>A:p.Pro2059His	coding	Benign
16	89280431	G	C	G89280431C	ANKRD11	NM_013275.6(ANKRD11):c.6111C>G:p.Val2037=	coding	Benign
16	89280436	C	T	C89280436T	ANKRD11	NM_013275.6(ANKRD11):c.6106G>A:p.Asp2036Asn	coding	Benign/Likely_benign
16	89280457	C	T	C89280457T	ANKRD11	NM_013275.6(ANKRD11):c.6085G>A:p.Val2029Ile	coding	Benign
16	89280458	G	A	G89280458A	ANKRD11	NM_013275.6(ANKRD11):c.6084C>T:p.Pro2028=	coding	Benign
16	89280475	C	G	C89280475G	ANKRD11	NM_013275.6(ANKRD11):c.6067G>C:p.Ala2023Pro	coding	Benign
16	89280522	G	A	G89280522A	ANKRD11	NM_013275.6(ANKRD11):c.6020C>T:p.Pro2007Leu	coding	Benign/Likely_benign
16	89280709	C	A	C89280709A	ANKRD11	NM_013275.6(ANKRD11):c.5833G>T:p.Glu1945Ter	coding	Pathogenic
16	89280752	G	C	G89280752C	ANKRD11	NM_013275.6(ANKRD11):c.5790C>G:p.Tyr1930Ter	coding	Pathogenic
16	89280804	G	T	G89280804T	ANKRD11	NM_013275.6(ANKRD11):c.5738C>A:p.Thr1913Asn	coding	Benign/Likely_benign
16	89280877	T	C	T89280877C	ANKRD11	NM_013275.6(ANKRD11):c.5665A>G:p.Lys1889Glu	coding	Benign
16	89280881	T	C	T89280881C	ANKRD11	NM_013275.6(ANKRD11):c.5661A>G:p.Gln1887=	coding	Benign
16	89280917	G	A	G89280917A	ANKRD11	NM_013275.6(ANKRD11):c.5625C>T:p.Val1875=	coding	Benign/Likely_benign
16	89280956	G	A	G89280956A	ANKRD11	NM_013275.6(ANKRD11):c.5586C>T:p.Val1862=	coding	Benign
16	89281033	G	A	G89281033A	ANKRD11	NM_013275.6(ANKRD11):c.5509C>T:p.Pro1837Ser	coding	Benign
16	89281129	C	T	C89281129T	ANKRD11	NM_013275.6(ANKRD11):c.5413G>A:p.Val1805Ile	coding	Benign/Likely_benign
16	89281204	C	T	C89281204T	ANKRD11	NM_013275.6(ANKRD11):c.5338G>A:p.Ala1780Thr	coding	Benign
16	89281225	C	A	C89281225A	ANKRD11	NM_013275.6(ANKRD11):c.5317G>T:p.Glu1773Ter	coding	Pathogenic
16	89281292	G	A	G89281292A	ANKRD11	NM_013275.6(ANKRD11):c.5250C>T:p.Thr1750=	coding	Benign/Likely_benign
16	89281305	G	A	G89281305A	ANKRD11	NM_013275.6(ANKRD11):c.5237C>T:p.Thr1746Met	coding	Benign
16	89281344	G	A	G89281344A	ANKRD11	NM_013275.6(ANKRD11):c.5198C>T:p.Ala1733Val	coding	Benign
16	89281375	T	G	T89281375G	ANKRD11	NM_013275.6(ANKRD11):c.5167A>C:p.Arg1723=	coding	Benign
16	89281454	G	C	G89281454C	ANKRD11	NM_013275.6(ANKRD11):c.5088C>G:p.Asp1696Glu	coding	Benign/Likely_benign
16	89281610	C	T	C89281610T	ANKRD11	NM_013275.6(ANKRD11):c.4932G>A:p.Gly1644=	coding	Benign
16	89281630	G	C	G89281630C	ANKRD11	NM_013275.6(ANKRD11):c.4912C>G:p.Pro1638Ala	coding	Benign
16	89281658	G	A	G89281658A	ANKRD11	NM_013275.6(ANKRD11):c.4884C>T:p.Asp1628=	coding	Benign
16	89281670	C	T	C89281670T	ANKRD11	NM_013275.6(ANKRD11):c.4872G>A:p.Ala1624=	coding	Benign/Likely_benign
16	89281756	C	A	C89281756A	ANKRD11	NM_013275.6(ANKRD11):c.4786G>T:p.Glu1596Ter	coding	Pathogenic
16	89281923	T	C	T89281923C	ANKRD11	NM_013275.6(ANKRD11):c.4619A>G:p.Lys1540Arg	coding	Benign
16	89282102	A	G	A89282102G	ANKRD11	NM_013275.6(ANKRD11):c.4440T>C:p.His1480=	coding	Benign/Likely_benign
16	89282151	T	C	T89282151C	ANKRD11	NM_013275.6(ANKRD11):c.4391A>G:p.Lys1464Arg	coding	Benign
16	89282198	A	G	A89282198G	ANKRD11	NM_013275.6(ANKRD11):c.4344T>C:p.Tyr1448=	coding	Benign
16	89282225	C	T	C89282225T	ANKRD11	NM_013275.6(ANKRD11):c.4317G>A:p.Lys1439=	coding	Benign/Likely_benign
16	89282336	G	C	G89282336C	ANKRD11	NM_013275.6(ANKRD11):c.4206C>G:p.Tyr1402Ter	coding	Pathogenic
16	89282393	G	A	G89282393A	ANKRD11	NM_013275.6(ANKRD11):c.4149C>T:p.Gly1383=	coding	Benign/Likely_benign
16	89282402	G	C	G89282402C	ANKRD11	NM_013275.6(ANKRD11):c.4140C>G:p.Tyr1380Ter	coding	Pathogenic
16	89282428	C	A	C89282428A	ANKRD11	NM_013275.6(ANKRD11):c.4114G>T:p.Glu1372Ter	coding	Pathogenic
16	89282455	G	A	G89282455A	ANKRD11	NM_013275.6(ANKRD11):c.4087C>T:p.Arg1363Ter	coding	Pathogenic
16	89282615	C	T	C89282615T	ANKRD11	NM_013275.6(ANKRD11):c.3927G>A:p.Thr1309=	coding	Benign
16	89282673	T	C	T89282673C	ANKRD11	NM_013275.6(ANKRD11):c.3869A>G:p.His1290Arg	coding	Benign
16	89282720	G	A	G89282720A	ANKRD11	NM_013275.6(ANKRD11):c.3822C>T:p.Ala1274=	coding	Benign
16	89282882	C	T	C89282882T	ANKRD11	NM_013275.6(ANKRD11):c.3660G>A:p.Arg1220=	coding	Benign/Likely_benign
16	89282964	G	A	G89282964A	ANKRD11	NM_013275.6(ANKRD11):c.3578C>T:p.Ala1193Val	coding	Benign
16	89282969	G	C	G89282969C	ANKRD11	NM_013275.6(ANKRD11):c.3573C>G:p.Ala1191=	coding	Benign
16	89282980	G	A	G89282980A	ANKRD11	NM_013275.6(ANKRD11):c.3562C>T:p.Arg1188Ter	coding	Pathogenic
16	89283059	G	A	G89283059A	ANKRD11	NM_013275.6(ANKRD11):c.3483C>T:p.Ser1161=	coding	Benign/Likely_benign
16	89283111	G	A	G89283111A	ANKRD11	NM_013275.6(ANKRD11):c.3431C>T:p.Pro1144Leu	coding	Benign
16	89283119	G	A	G89283119A	ANKRD11	NM_013275.6(ANKRD11):c.3423C>T:p.Ser1141=	coding	Benign
16	89283298	G	A	G89283298A	ANKRD11	NM_013275.6(ANKRD11):c.3244C>T:p.Gln1082Ter	coding	Pathogenic
16	89283355	T	A	T89283355A	ANKRD11	NM_013275.6(ANKRD11):c.3187A>T:p.Lys1063Ter	coding	Pathogenic
16	89283380	T	C	T89283380C	ANKRD11	NM_013275.6(ANKRD11):c.3162A>G:p.Lys1054=	coding	Benign
16	89283404	A	T	A89283404T	ANKRD11	NM_013275.6(ANKRD11):c.3138T>A:p.Cys1046Ter	coding	Pathogenic
16	89283420	G	C	G89283420C	ANKRD11	NM_013275.6(ANKRD11):c.3122C>G:p.Ser1041Ter	coding	Pathogenic
16	89283420	G	T	G89283420T	ANKRD11	NM_013275.6(ANKRD11):c.3122C>A:p.Ser1041Ter	coding	Pathogenic
16	89283458	G	T	G89283458T	ANKRD11	NM_013275.6(ANKRD11):c.3084C>A:p.Tyr1028Ter	coding	Pathogenic/Likely_pathogenic
16	89283497	G	C	G89283497C	ANKRD11	NM_013275.6(ANKRD11):c.3045C>G:p.Pro1015=	coding	Benign/Likely_benign
16	89283523	G	A	G89283523A	ANKRD11	NM_013275.6(ANKRD11):c.3019C>T:p.Arg1007Ter	coding	Pathogenic/Likely_pathogenic
16	89283598	C	A	C89283598A	ANKRD11	NM_013275.6(ANKRD11):c.2944G>T:p.Glu982Ter	coding	Pathogenic
16	89283630	G	A	G89283630A	ANKRD11	NM_013275.6(ANKRD11):c.2912C>T:p.Ala971Val	coding	Benign
16	89283826	G	A	G89283826A	ANKRD11	NM_013275.6(ANKRD11):c.2716C>T:p.Arg906Ter	coding	Pathogenic
16	89283838	C	A	C89283838A	ANKRD11	NM_013275.6(ANKRD11):c.2704G>T:p.Glu902Ter	coding	Pathogenic
16	89283850	G	A	G89283850A	ANKRD11	NM_013275.6(ANKRD11):c.2692C>T:p.Arg898Ter	coding	Pathogenic
16	89283895	C	A	C89283895A	ANKRD11	NM_013275.6(ANKRD11):c.2647G>T:p.Glu883Ter	coding	Pathogenic
16	89283932	G	A	G89283932A	ANKRD11	NM_013275.6(ANKRD11):c.2610C>T:p.Ser870=	coding	Benign/Likely_benign
16	89284023	C	T	C89284023T	ANKRD11	NM_013275.6(ANKRD11):c.2519G>A:p.Arg840Gln	coding	Benign
16	89284030	G	A	G89284030A	ANKRD11	NM_013275.6(ANKRD11):c.2512C>T:p.Arg838Ter	coding	Pathogenic
16	89284037	G	A	G89284037A	ANKRD11	NM_013275.6(ANKRD11):c.2505C>T:p.Asp835=	coding	Benign/Likely_benign
16	89284192	C	A	C89284192A	ANKRD11	NM_013275.6(ANKRD11):c.2350G>T:p.Glu784Ter	coding	Pathogenic
16	89284213	C	A	C89284213A	ANKRD11	NM_013275.6(ANKRD11):c.2329G>T:p.Glu777Ter	coding	Pathogenic
16	89284215	A	C	A89284215C	ANKRD11	NM_013275.6(ANKRD11):c.2327T>G:p.Leu776Ter	coding	Pathogenic/Likely_pathogenic
16	89284243	T	A	T89284243A	ANKRD11	NM_013275.6(ANKRD11):c.2299A>T:p.Lys767Ter	coding	Pathogenic
16	89284250	C	T	C89284250T	ANKRD11	NM_013275.6(ANKRD11):c.2292G>A:p.Glu764=	coding	Benign
16	89284259	G	C	G89284259C	ANKRD11	NM_013275.6(ANKRD11):c.2283C>G:p.Tyr761Ter	coding	Pathogenic
16	89284302	G	A	G89284302A	ANKRD11	NM_013275.6(ANKRD11):c.2240C>T:p.Ser747Leu	coding	Benign
16	89284345	G	A	G89284345A	ANKRD11	NM_013275.6(ANKRD11):c.2197C>T:p.Arg733Ter	coding	Pathogenic/Likely_pathogenic
16	89284412	C	T	C89284412T	ANKRD11	NM_013275.6(ANKRD11):c.2130G>A:p.Trp710Ter	coding	Pathogenic
16	89284503	G	C	G89284503C	ANKRD11	NM_013275.6(ANKRD11):c.2039C>G:p.Thr680Ser	coding	Benign
16	89284546	G	A	G89284546A	ANKRD11	NM_013275.6(ANKRD11):c.1996C>T:p.Gln666Ter	coding	Pathogenic
16	89284565	G	C	G89284565C	ANKRD11	NM_013275.6(ANKRD11):c.1977C>G:p.Tyr659Ter	coding	Pathogenic/Likely_pathogenic
16	89284565	G	T	G89284565T	ANKRD11	NM_013275.6(ANKRD11):c.1977C>A:p.Tyr659Ter	coding	Pathogenic
16	89284594	G	A	G89284594A	ANKRD11	NM_013275.6(ANKRD11):c.1948C>T:p.Gln650Ter	coding	Pathogenic
16	89284690	C	T	C89284690T	ANKRD11	NM_013275.6(ANKRD11):c.1852G>A:p.Ala618Thr	coding	Benign/Likely_benign
16	89284691	G	A	G89284691A	ANKRD11	NM_013275.6(ANKRD11):c.1851C>T:p.Gly617=	coding	Benign/Likely_benign
16	89284698	G	C	G89284698C	ANKRD11	NM_013275.6(ANKRD11):c.1844C>G:p.Ala615Gly	coding	Benign
16	89284700	G	A	G89284700A	ANKRD11	NM_013275.6(ANKRD11):c.1842C>T:p.Ser614=	coding	Benign/Likely_benign
16	89284741	G	A	G89284741A	ANKRD11	NM_013275.6(ANKRD11):c.1801C>T:p.Arg601Ter	coding	Pathogenic
16	89284817	G	A	G89284817A	ANKRD11	NM_013275.6(ANKRD11):c.1725C>T:p.Ser575=	coding	Benign/Likely_benign
16	89284863	G	C	G89284863C	ANKRD11	NM_013275.6(ANKRD11):c.1679C>G:p.Ser560Ter	coding	Pathogenic
16	89284865	C	T	C89284865T	ANKRD11	NM_013275.6(ANKRD11):c.1677G>A:p.Trp559Ter	coding	Pathogenic
16	89284890	C	T	C89284890T	ANKRD11	NM_013275.6(ANKRD11):c.1652G>A:p.Trp551Ter	coding	Pathogenic
16	89284921	G	A	G89284921A	ANKRD11	NM_013275.6(ANKRD11):c.1621C>T:p.Gln541Ter	coding	Pathogenic
16	89285170	G	A	G89285170A	ANKRD11	NM_013275.6(ANKRD11):c.1372C>T:p.Arg458Ter	coding	Pathogenic
16	89285224	G	A	G89285224A	ANKRD11	NM_013275.6(ANKRD11):c.1318C>T:p.Arg440Ter	coding	Pathogenic
16	89285246	C	G	C89285246G	ANKRD11	NM_013275.6(ANKRD11):c.1296G>C:p.Thr432=	coding	Benign
16	89285297	G	A	G89285297A	ANKRD11	NM_013275.6(ANKRD11):c.1245C>T:p.Asp415=	coding	Benign
16	89285515	C	T	C89285515T	ANKRD11	NM_013275.6(ANKRD11):c.1027G>A:p.Val343Ile	coding	Benign/Likely_benign
16	89285522	C	T	C89285522T	ANKRD11	NM_013275.6(ANKRD11):c.1020G>A:p.Thr340=	coding	Benign
16	89285650	C	G	C89285650G	ANKRD11	NM_013275.6(ANKRD11):c.893-1G>C	coding	Pathogenic
16	89286041	G	A	G89286041A	ANKRD11	NM_013275.6(ANKRD11):c.890C>T:p.Thr297Met	coding	Benign/Likely_benign
16	89286064	G	T	G89286064T	ANKRD11	NM_013275.6(ANKRD11):c.867C>A:p.Tyr289Ter	coding	Pathogenic
16	89286162	C	A	C89286162A	ANKRD11	NM_013275.6(ANKRD11):c.769G>T:p.Gly257Ter	coding	Pathogenic
16	89288510	G	C	G89288510C	ANKRD11	NM_013275.6(ANKRD11):c.744+18C>G	noncoding	Benign/Likely_benign
16	89290618	T	C	T89290618C	ANKRD11	NM_013275.6(ANKRD11):c.601+7A>G	noncoding	Benign
16	89290802	G	A	G89290802A	ANKRD11	NM_013275.6(ANKRD11):c.424C>T:p.Gln142Ter	coding	Pathogenic
16	89291038	C	T	C89291038T	ANKRD11	NM_013275.6(ANKRD11):c.372G>A:p.Thr124=	coding	Benign
16	89291104	C	G	C89291104G	ANKRD11	NM_013275.6(ANKRD11):c.306G>C:p.Leu102=	coding	Benign/Likely_benign
16	89291130	C	G	C89291130G	ANKRD11	NM_013275.6(ANKRD11):c.280G>C:p.Ala94Pro	coding	Benign
16	89291135	C	T	C89291135T	ANKRD11	NM_013275.6(ANKRD11):c.275G>A:p.Arg92Gln	coding	Benign
16	89291193	G	A	G89291193A	ANKRD11	NM_013275.6(ANKRD11):c.227-10C>T	noncoding	Benign
16	89305206	C	T	C89305206T	ANKRD11	NM_013275.6(ANKRD11):c.226G>A:p.Glu76Lys	coding	Pathogenic
16	89305260	G	T	G89305260T	ANKRD11	NM_013275.6(ANKRD11):c.172C>A:p.Arg58=	coding	Benign
16	89305272	G	A	G89305272A	ANKRD11	NM_013275.6(ANKRD11):c.160C>T:p.Arg54Ter	coding	Pathogenic
16	89316951	C	T	C89316951T	ANKRD11	NM_013275.6(ANKRD11):c.69G>A:p.Glu23=	coding	Benign
16	89508426	G	T	G89508426T	SPG7	NM_003119.4(SPG7):c.9G>T:p.Val3=	coding	Benign/Likely_benign
16	89508503	G	A	G89508503A	SPG7	NM_003119.4(SPG7):c.86G>A:p.Trp29Ter	coding	Pathogenic
16	89508504	G	A	G89508504A	SPG7	NM_003119.4(SPG7):c.87G>A:p.Trp29Ter	coding	Pathogenic
16	89510539	T	A	T89510539A	SPG7	NM_003119.4(SPG7):c.233T>A:p.Leu78Ter	coding	Pathogenic
16	89510550	C	G	C89510550G	SPG7	NM_003119.4(SPG7):c.244C>G:p.Gln82Glu	coding	Benign
16	89512668	A	G	A89512668G	SPG7	NM_003119.4(SPG7):c.287-280A>G	noncoding	Benign
16	89512715	G	A	G89512715A	SPG7	NM_003119.4(SPG7):c.287-233G>A	noncoding	Benign
16	89513008	C	A	C89513008A	SPG7	NM_003119.4(SPG7):c.347C>A:p.Ser116Ter	coding	Pathogenic
16	89513037	G	C	G89513037C	SPG7	NM_003119.4(SPG7):c.376G>C:p.Glu126Gln	coding	Pathogenic/Likely_pathogenic
16	89513038	G	T	G89513038T	SPG7	NM_003119.4(SPG7):c.376+1G>T	coding	Pathogenic/Likely_pathogenic
16	89523835	G	A	G89523835A	SPG7	NM_003119.4(SPG7):c.377-171G>A	noncoding	Benign
16	89524259	T	C	T89524259C	SPG7	NM_003119.4(SPG7):c.618+12T>C	noncoding	Benign
16	89526389	C	T	C89526389T	SPG7	NM_003119.4(SPG7):c.679C>T:p.Arg227Ter	coding	Pathogenic
16	89526449	C	T	C89526449T	SPG7	NM_003119.4(SPG7):c.739C>T:p.Arg247Ter	coding	Pathogenic
16	89529315	G	A	G89529315A	SPG7	NM_003119.4(SPG7):c.759-162G>A	noncoding	Benign
16	89530667	T	G	T89530667G	SPG7	NM_003119.4(SPG7):c.862-16T>G	noncoding	Benign
16	89530702	G	A	G89530702A	SPG7	NM_003119.4(SPG7):c.881G>A:p.Arg294His	coding	Benign
16	89530813	A	G	A89530813G	SPG7	NM_003119.4(SPG7):c.987+5A>G	noncoding	Benign
16	89530827	G	A	G89530827A	SPG7	NM_003119.4(SPG7):c.987+19G>A	noncoding	Benign
16	89531903	G	A	G89531903A	SPG7	NM_003119.4(SPG7):c.988-1G>A	noncoding	Pathogenic
16	89531961	G	A	G89531961A	SPG7	NM_003119.4(SPG7):c.1045G>A:p.Gly349Ser	coding	Pathogenic/Likely_pathogenic
16	89532455	C	T	C89532455T	SPG7	NM_003119.4(SPG7):c.1151-8C>T	noncoding	Benign
16	89532504	C	T	C89532504T	SPG7	NM_003119.4(SPG7):c.1192C>T:p.Arg398Ter	coding	Pathogenic
16	89532833	C	T	C89532833T	SPG7	NM_003119.4(SPG7):c.1324+197C>T	noncoding	Benign
16	89532944	G	T	G89532944T	SPG7	NM_003119.4(SPG7):c.1324+308G>T	noncoding	Benign
16	89536809	C	T	C89536809T	SPG7	NM_003119.4(SPG7):c.1324+4173C>T	coding	Benign
16	89537178	A	G	A89537178G	SPG7	NM_003119.4(SPG7):c.1324+4542A>G	coding	Benign
16	89544692	C	T	C89544692T	SPG7	NM_003119.4(SPG7):c.1369C>T:p.Arg457Ter	coding	Pathogenic
16	89544731	C	T	C89544731T	SPG7	NM_003119.4(SPG7):c.1408C>T:p.Arg470Ter	coding	Pathogenic
16	89544770	C	T	C89544770T	SPG7	NM_003119.4(SPG7):c.1447C>T:p.Gln483Ter	coding	Pathogenic/Likely_pathogenic
16	89544791	G	A	G89544791A	SPG7	NM_003119.4(SPG7):c.1449+19G>A	noncoding	Benign
16	89544946	C	T	C89544946T	SPG7	NM_003119.4(SPG7):c.1449+174C>T	noncoding	Benign
16	89546715	A	G	A89546715G	SPG7	NM_003119.4(SPG7):c.1507A>G:p.Thr503Ala	coding	Benign
16	89546761	G	T	G89546761T	SPG7	NM_003119.4(SPG7):c.1552+1G>T	coding	Pathogenic
16	89546965	G	A	G89546965A	SPG7	NM_003119.4(SPG7):c.1552+205G>A	noncoding	Benign
16	89546991	C	T	C89546991T	SPG7	NM_003119.4(SPG7):c.1552+231C>T	noncoding	Benign
16	89547004	T	C	T89547004C	SPG7	NM_003119.4(SPG7):c.1552+244T>C	noncoding	Benign
16	89548001	A	G	A89548001G	SPG7	NM_003119.4(SPG7):c.1553-2A>G	noncoding	Pathogenic
16	89548103	C	T	C89548103T	SPG7	NM_003119.4(SPG7):c.1653C>T:p.Arg551=	coding	Benign
16	89548126	C	T	C89548126T	SPG7	NM_003119.4(SPG7):c.1663+13C>T	noncoding	Benign
16	89548127	G	A	G89548127A	SPG7	NM_003119.4(SPG7):c.1663+14G>A	noncoding	Benign
16	89550150	T	C	T89550150C	SPG7	NM_003119.4(SPG7):c.1664-344T>C	noncoding	Benign
16	89550479	C	A	C89550479A	SPG7	NM_003119.4(SPG7):c.1664-15C>A	noncoding	Benign
16	89550502	A	T	A89550502T	SPG7	NM_003119.4(SPG7):c.1672A>T:p.Lys558Ter	coding	Pathogenic
16	89550505	A	T	A89550505T	SPG7	NM_003119.4(SPG7):c.1675A>T:p.Lys559Ter	coding	Pathogenic/Likely_pathogenic
16	89550545	C	T	C89550545T	SPG7	NM_003119.4(SPG7):c.1715C>T:p.Ala572Val	coding	Pathogenic/Likely_pathogenic
16	89550600	C	T	C89550600T	SPG7	NM_003119.4(SPG7):c.1770C>T:p.Ala590=	coding	Benign
16	89550629	G	A	G89550629A	SPG7	NM_003119.4(SPG7):c.1779+20G>A	noncoding	Benign
16	89553147	C	T	C89553147T	SPG7	NM_003119.4(SPG7):c.1936+12C>T	noncoding	Benign/Likely_benign
16	89553289	G	T	G89553289T	SPG7	NM_003119.4(SPG7):c.1936+154G>T	noncoding	Benign
16	89553778	C	G	C89553778G	SPG7	NM_003119.4(SPG7):c.1937-16C>G	noncoding	Benign/Likely_benign
16	89553792	A	G	A89553792G	SPG7	NM_003119.4(SPG7):c.1937-2A>G	noncoding	Pathogenic
16	89553853	G	A	G89553853A	SPG7	NM_003119.4(SPG7):c.1996G>A:p.Gly666Arg	coding	Pathogenic
16	89553894	G	A	G89553894A	SPG7	NM_003119.4(SPG7):c.2037G>A:p.Ala679=	coding	Benign
16	89553920	G	A	G89553920A	SPG7	NM_003119.4(SPG7):c.2063G>A:p.Arg688Gln	coding	Benign
16	89553932	G	C	G89553932C	SPG7	NM_003119.4(SPG7):c.2075G>C:p.Ser692Thr	coding	Pathogenic
16	89553941	T	C	T89553941C	SPG7	NM_003119.4(SPG7):c.2084T>C:p.Leu695Pro	coding	Pathogenic/Likely_pathogenic
16	89556893	A	G	A89556893G	SPG7	NM_003119.4(SPG7):c.2188A>G:p.Asn730Asp	coding	Benign/Likely_benign
16	89556933	T	C	T89556933C	SPG7	NM_003119.4(SPG7):c.2228T>C:p.Ile743Thr	coding	Pathogenic/Likely_pathogenic
16	89556954	C	T	C89556954T	SPG7	NM_003119.4(SPG7):c.2249C>T:p.Pro750Leu	coding	Pathogenic
16	89556985	G	A	G89556985A	SPG7	NM_003119.4(SPG7):c.2280G>A:p.Pro760=	coding	Benign/Likely_benign
16	89556997	C	T	C89556997T	SPG7	NM_003119.4(SPG7):c.2292C>T:p.Ile764=	coding	Benign
16	89557000	C	T	C89557000T	SPG7	NM_003119.4(SPG7):c.2295C>T:p.Asp765=	coding	Benign/Likely_benign
16	89557126	C	T	C89557126T	SPG7	NM_003119.4(SPG7):c.*33C>T	noncoding	Benign
16	89562392	G	A	G89562392A	RPL13	NM_000977.3(RPL13):c.477+1G>A	coding	Pathogenic
16	89562392	G	T	G89562392T	RPL13	NM_000977.3(RPL13):c.477+1G>T	coding	Pathogenic
16	89562393	T	C	T89562393C	RPL13	NM_000977.3(RPL13):c.477+2T>C	noncoding	Pathogenic
16	89562939	C	A	C89562939A	RPL13	NM_033251.2(RPL13):c.533C>A:p.Ala178Asp	coding	Pathogenic
16	89562954	G	C	G89562954C	RPL13	NM_000977.3(RPL13):c.548G>C:p.Arg183Pro	coding	Pathogenic
16	89562954	G	T	G89562954T	RPL13	NM_000977.3(RPL13):c.548G>T:p.Arg183Leu	coding	Pathogenic
16	89562959	G	C	G89562959C	RPL13	NM_033251.2(RPL13):c.553G>C:p.Ala185Pro	coding	Pathogenic
16	89645966	A	C	A89645966C	CHMP1A	NM_002768.5(CHMP1A):c.*100T>G	coding	Benign
16	89645971	C	T	C89645971T	CHMP1A	NM_002768.5(CHMP1A):c.*95G>A	coding	Benign
16	89645972	G	A	G89645972A	CHMP1A	NM_002768.5(CHMP1A):c.*94C>T	coding	Benign
16	89646107	C	G	C89646107G	CHMP1A	NM_002768.5(CHMP1A):c.570-20G>C	noncoding	Benign
16	89646589	G	A	G89646589A	CHMP1A	NM_002768.5(CHMP1A):c.507C>T:p.Pro169=	coding	Benign/Likely_benign
16	89646722	C	A	C89646722A	CHMP1A	NM_002768.5(CHMP1A):c.382-8G>T	noncoding	Benign
16	89646766	C	T	C89646766T	CHMP1A	NM_002768.5(CHMP1A):c.382-52G>A	noncoding	Benign
16	89647530	T	C	T89647530C	CHMP1A	NM_002768.5(CHMP1A):c.253-199A>G	noncoding	Benign
16	89647561	T	C	T89647561C	CHMP1A	NM_002768.5(CHMP1A):c.253-230A>G	noncoding	Benign
16	89647572	T	C	T89647572C	CHMP1A	NM_002768.5(CHMP1A):c.253-241A>G	noncoding	Benign
16	89649240	G	A	G89649240A	CHMP1A	NM_002768.5(CHMP1A):c.252+111C>T	noncoding	Benign
16	89649256	C	T	C89649256T	CHMP1A	NM_002768.5(CHMP1A):c.252+95G>A	noncoding	Benign
16	89649390	T	C	T89649390C	CHMP1A	NM_002768.5(CHMP1A):c.213A>G:p.Ala71=	coding	Benign
16	89649495	G	A	G89649495A	CHMP1A	NM_002768.5(CHMP1A):c.108C>T:p.Ala36=	coding	Pathogenic
16	89649508	C	G	C89649508G	CHMP1A	NM_002768.5(CHMP1A):c.106-11G>C	noncoding	Benign
16	89651586	G	A	G89651586A	CHMP1A	NM_002768.5(CHMP1A):c.88C>T:p.Gln30Ter	coding	Pathogenic
16	89651623	C	T	C89651623T	CHMP1A	NM_002768.5(CHMP1A):c.51G>A:p.Lys17=	coding	Benign/Likely_benign
16	89651659	C	T	C89651659T	CHMP1A	NM_002768.5(CHMP1A):c.28-13G>A	noncoding	Pathogenic
16	89653894	C	T	C89653894T	CHMP1A	NM_002768.5(CHMP1A):c.27+10G>A	noncoding	Benign/Likely_benign
16	89657619	G	A	G89657619A	CHMP1A	NM_002768.5(CHMP1A):c.-31C>T	noncoding	Benign
16	89693468	G	A	G89693468A	CDK10	NM_052988.5(CDK10):c.608+1G>A	coding	Pathogenic
16	89694172	G	A	G89694172A	CDK10	NM_052988.5(CDK10):c.609-1G>A	noncoding	Pathogenic
16	89711882	A	G	A89711882G	VPS9D1	NM_004913.3(VPS9D1):c.747T>C:p.His249=	coding	Benign
16	89712511	T	C	T89712511C	VPS9D1	NM_004913.3(VPS9D1):c.555A>G:p.Leu185=	coding	Benign
16	89737590	G	A	G89737590A	FANCA	NM_000135.4(FANCA):c.*1011C>T	coding	Benign
16	89737615	C	T	C89737615T	FANCA	NM_000135.4(FANCA):c.*986G>A	coding	Benign
16	89737922	A	C	A89737922C	FANCA	NM_000135.4(FANCA):c.*679T>G	coding	Benign
16	89737928	T	C	T89737928C	FANCA	NM_000135.4(FANCA):c.*673A>G	coding	Benign
16	89737931	C	A	C89737931A	FANCA	NM_000135.4(FANCA):c.*670G>T	coding	Benign
16	89738216	G	C	G89738216C	FANCA	NM_000135.4(FANCA):c.*385C>G	coding	Benign
16	89738314	C	T	C89738314T	FANCA	NM_000135.4(FANCA):c.*287G>A	noncoding	Benign
16	89738315	G	A	G89738315A	FANCA	NM_000135.4(FANCA):c.*286C>T	noncoding	Benign
16	89738349	C	G	C89738349G	FANCA	NM_000135.4(FANCA):c.*252G>C	noncoding	Benign
16	89738447	C	T	C89738447T	FANCA	NM_000135.4(FANCA):c.*154G>A	noncoding	Benign
16	89738637	A	C	A89738637C	FANCA	NM_000135.4(FANCA):c.4332T>G:p.Pro1444=	coding	Benign/Likely_benign
16	89738710	T	C	T89738710C	FANCA	NM_000135.4(FANCA):c.4261-2A>G	coding	Pathogenic
16	89738710	T	G	T89738710G	FANCA	NM_000135.4(FANCA):c.4261-2A>C	coding	Pathogenic
16	89738711	G	C	G89738711C	FANCA	NM_000135.4(FANCA):c.4261-3C>G	coding	Pathogenic
16	89738853	A	G	A89738853G	FANCA	NM_000135.4(FANCA):c.4260+29T>C	coding	Benign
16	89738895	G	C	G89738895C	FANCA	NM_000135.4(FANCA):c.4247C>G:p.Ser1416Ter	coding	Pathogenic/Likely_pathogenic
16	89738947	C	G	C89738947G	FANCA	NM_000135.4(FANCA):c.4195G>C:p.Ala1399Pro	coding	Pathogenic
16	89738975	C	G	C89738975G	FANCA	NM_000135.4(FANCA):c.4168-1G>C	coding	Pathogenic
16	89738976	T	C	T89738976C	FANCA	NM_000135.4(FANCA):c.4168-2A>G	coding	Pathogenic
16	89739170	G	C	G89739170C	FANCA	NM_000135.4(FANCA):c.4130C>G:p.Ser1377Ter	coding	Pathogenic
16	89739215	A	T	A89739215T	FANCA	NM_000135.4(FANCA):c.4085T>A:p.Leu1362Ter	coding	Pathogenic
16	89739220	C	G	C89739220G	FANCA	NM_000135.4(FANCA):c.4080G>C:p.Met1360Ile	coding	Pathogenic
16	89739231	C	G	C89739231G	FANCA	NM_000135.4(FANCA):c.4069G>C:p.Ala1357Pro	coding	Pathogenic
16	89739264	C	T	C89739264T	FANCA	NM_000135.4(FANCA):c.4036G>A:p.Ala1346Thr	coding	Benign/Likely_benign
16	89739290	C	T	C89739290T	FANCA	NM_000135.4(FANCA):c.4011-1G>A	coding	Pathogenic
16	89739479	T	C	T89739479C	FANCA	NM_000135.4(FANCA):c.4009A>G:p.Ser1337Gly	coding	Pathogenic
16	89739506	T	C	T89739506C	FANCA	NM_000135.4(FANCA):c.3982A>G:p.Thr1328Ala	coding	Benign
16	89739515	C	G	C89739515G	FANCA	NM_000135.4(FANCA):c.3973G>C:p.Asp1325His	coding	Pathogenic
16	89739517	G	A	G89739517A	FANCA	NM_000135.4(FANCA):c.3971C>T:p.Pro1324Leu	coding	Pathogenic/Likely_pathogenic
16	89739559	A	G	A89739559G	FANCA	NM_000135.4(FANCA):c.3935-6T>C	coding	Benign/Likely_benign
16	89739562	C	T	C89739562T	FANCA	NM_000135.4(FANCA):c.3935-9G>A	coding	Benign
16	89739569	G	A	G89739569A	FANCA	NM_000135.4(FANCA):c.3935-16C>T	coding	Benign
16	89740037	C	T	C89740037T	FANCA	NM_000135.4(FANCA):c.3891G>A:p.Lys1297=	coding	Benign/Likely_benign
16	89740069	C	T	C89740069T	FANCA	NM_000135.4(FANCA):c.3859G>A:p.Val1287Ile	coding	Benign/Likely_benign
16	89740100	C	G	C89740100G	FANCA	NM_000135.4(FANCA):c.3829-1G>C	coding	Pathogenic
16	89740803	C	A	C89740803A	FANCA	NM_000135.4(FANCA):c.3828+1G>T	coding	Pathogenic
16	89740825	C	G	C89740825G	FANCA	NM_000135.4(FANCA):c.3807G>C:p.Leu1269=	coding	Benign
16	89740846	G	C	G89740846C	FANCA	NM_000135.4(FANCA):c.3786C>G:p.Phe1262Leu	coding	Pathogenic
16	89740868	T	C	T89740868C	FANCA	NM_000135.4(FANCA):c.3766-2A>G	coding	Pathogenic
16	89742763	C	T	C89742763T	FANCA	NM_000135.4(FANCA):c.3765+37G>A	noncoding	Benign
16	89742799	C	A	C89742799A	FANCA	NM_000135.4(FANCA):c.3765+1G>T	noncoding	Pathogenic
16	89742805	C	A	C89742805A	FANCA	NM_000135.4(FANCA):c.3760G>T:p.Glu1254Ter	coding	Pathogenic
16	89742819	A	G	A89742819G	FANCA	NM_000135.4(FANCA):c.3746T>C:p.Leu1249Pro	coding	Pathogenic
16	89742911	T	C	T89742911C	FANCA	NM_000135.4(FANCA):c.3654A>G:p.Pro1218=	coding	Benign
16	89742939	C	G	C89742939G	FANCA	NM_000135.4(FANCA):c.3627-1G>C	coding	Pathogenic
16	89744974	C	G	C89744974G	FANCA	NM_000135.4(FANCA):c.3611G>C:p.Arg1204Pro	coding	Pathogenic
16	89744994	C	T	C89744994T	FANCA	NM_000135.4(FANCA):c.3591G>A:p.Leu1197=	coding	Benign/Likely_benign
16	89745001	C	T	C89745001T	FANCA	NM_000135.4(FANCA):c.3584G>A:p.Arg1195Gln	coding	Benign
16	89745009	C	T	C89745009T	FANCA	NM_000135.4(FANCA):c.3576G>A:p.Pro1192=	coding	Benign
16	89745017	G	A	G89745017A	FANCA	NM_000135.4(FANCA):c.3568C>T:p.Gln1190Ter	coding	Pathogenic
16	89745031	C	T	C89745031T	FANCA	NM_000135.4(FANCA):c.3554G>A:p.Trp1185Ter	coding	Pathogenic
16	89745047	C	T	C89745047T	FANCA	NM_000135.4(FANCA):c.3538G>A:p.Val1180Met	coding	Benign/Likely_benign
16	89745064	C	T	C89745064T	FANCA	NM_000135.4(FANCA):c.3521G>A:p.Trp1174Ter	coding	Pathogenic
16	89745075	T	C	T89745075C	FANCA	NM_000135.4(FANCA):c.3514-4A>G	noncoding	Benign
16	89746584	C	T	C89746584T	FANCA	NM_000135.4(FANCA):c.3513G>A:p.Leu1171=	coding	Pathogenic
16	89746606	G	A	G89746606A	FANCA	NM_000135.4(FANCA):c.3491C>T:p.Pro1164Leu	coding	Pathogenic
16	89746670	G	C	G89746670C	FANCA	NM_000135.4(FANCA):c.3427C>G:p.Leu1143Val	coding	Benign
16	89746685	G	C	G89746685C	FANCA	NM_000135.4(FANCA):c.3412C>G:p.Leu1138Val	coding	Benign/Likely_benign
16	89746786	C	T	C89746786T	FANCA	NM_000135.4(FANCA):c.3408+45G>A	noncoding	Benign
16	89746798	A	G	A89746798G	FANCA	NM_000135.4(FANCA):c.3408+33T>C	noncoding	Benign
16	89746848	T	C	T89746848C	FANCA	NM_000135.4(FANCA):c.3391A>G:p.Thr1131Ala	coding	Pathogenic/Likely_pathogenic
16	89746853	T	A	T89746853A	FANCA	NM_000135.4(FANCA):c.3386A>T:p.Asp1129Val	coding	Pathogenic
16	89746889	C	G	C89746889G	FANCA	NM_000135.4(FANCA):c.3350G>C:p.Arg1117Thr	coding	Pathogenic
16	89746890	T	C	T89746890C	FANCA	NM_000135.4(FANCA):c.3349A>G:p.Arg1117Gly	coding	Pathogenic
16	89746891	C	T	C89746891T	FANCA	NM_000135.4(FANCA):c.3349-1G>A	coding	Pathogenic/Likely_pathogenic
16	89746892	T	C	T89746892C	FANCA	NM_000135.4(FANCA):c.3349-2A>G	noncoding	Pathogenic
16	89748641	T	C	T89748641C	FANCA	NM_000135.4(FANCA):c.3348+18A>G	noncoding	Benign/Likely_benign
16	89748654	C	T	C89748654T	FANCA	NM_000135.4(FANCA):c.3348+5G>A	noncoding	Pathogenic
16	89748658	C	T	C89748658T	FANCA	NM_000135.4(FANCA):c.3348+1G>A	noncoding	Pathogenic
16	89748678	T	G	T89748678G	FANCA	NM_000135.4(FANCA):c.3329A>C:p.His1110Pro	coding	Pathogenic
16	89748691	C	A	C89748691A	FANCA	NM_000135.4(FANCA):c.3316G>T:p.Glu1106Ter	coding	Pathogenic
16	89748721	G	A	G89748721A	FANCA	NM_000135.4(FANCA):c.3286C>T:p.Gln1096Ter	coding	Pathogenic
16	89748742	C	T	C89748742T	FANCA	NM_000135.4(FANCA):c.3265G>A:p.Val1089Ile	coding	Benign/Likely_benign
16	89748744	G	A	G89748744A	FANCA	NM_000135.4(FANCA):c.3263C>T:p.Ser1088Phe	coding	Benign
16	89748809	C	T	C89748809T	FANCA	NM_000135.4(FANCA):c.3240-42G>A	noncoding	Benign
16	89749648	A	C	A89749648C	FANCA	NM_000135.4(FANCA):c.3239+82T>G	noncoding	Pathogenic
16	89749730	C	A	C89749730A	FANCA	NM_000135.4(FANCA):c.3239G>T:p.Arg1080Leu	coding	Pathogenic
16	89749771	A	G	A89749771G	FANCA	NM_000135.4(FANCA):c.3198T>C:p.Ala1066=	coding	Benign
16	89749781	C	T	C89749781T	FANCA	NM_000135.4(FANCA):c.3188G>A:p.Trp1063Ter	coding	Pathogenic
16	89749805	C	T	C89749805T	FANCA	NM_000135.4(FANCA):c.3164G>A:p.Arg1055Gln	coding	Pathogenic
16	89749806	G	A	G89749806A	FANCA	NM_000135.4(FANCA):c.3163C>T:p.Arg1055Trp	coding	Pathogenic/Likely_pathogenic
16	89749839	G	A	G89749839A	FANCA	NM_000135.4(FANCA):c.3130C>T:p.Gln1044Ter	coding	Pathogenic
16	89749855	G	A	G89749855A	FANCA	NM_000135.4(FANCA):c.3114C>T:p.Leu1038=	coding	Benign/Likely_benign
16	89749878	G	A	G89749878A	FANCA	NM_000135.4(FANCA):c.3091C>T:p.Gln1031Ter	coding	Pathogenic
16	89749884	C	A	C89749884A	FANCA	NM_000135.4(FANCA):c.3085G>T:p.Glu1029Ter	coding	Pathogenic
16	89749903	C	T	C89749903T	FANCA	NM_000135.4(FANCA):c.3067-1G>A	coding	Pathogenic
16	89749906	A	G	A89749906G	FANCA	NM_000135.4(FANCA):c.3067-4T>C	noncoding	Benign
16	89749925	C	T	C89749925T	FANCA	NM_000135.4(FANCA):c.3067-23G>A	noncoding	Benign
16	89752137	C	T	C89752137T	FANCA	NM_000135.4(FANCA):c.3066+1G>A	noncoding	Pathogenic
16	89752414	T	C	T89752414C	FANCA	NM_000135.4(FANCA):c.2982-192A>G	noncoding	Pathogenic
16	89758581	G	T	G89758581T	FANCA	NM_000135.4(FANCA):c.2977C>A:p.Gln993Lys	coding	Benign
16	89758657	G	A	G89758657A	FANCA	NM_000135.4(FANCA):c.2901C>T:p.Ser967=	coding	Benign
16	89758688	C	T	C89758688T	FANCA	NM_000135.4(FANCA):c.2870G>A:p.Trp957Ter	coding	Pathogenic
16	89758692	G	A	G89758692A	FANCA	NM_000135.4(FANCA):c.2866C>T:p.Gln956Ter	coding	Pathogenic
16	89758702	C	G	C89758702G	FANCA	NM_000135.4(FANCA):c.2856G>C:p.Gln952His	coding	Benign
16	89758704	G	A	G89758704A	FANCA	NM_000135.4(FANCA):c.2854C>T:p.Gln952Ter	coding	Pathogenic
16	89761949	C	T	C89761949T	FANCA	NM_000135.4(FANCA):c.2852G>A:p.Arg951Gln	coding	Pathogenic/Likely_pathogenic
16	89761950	G	A	G89761950A	FANCA	NM_000135.4(FANCA):c.2851C>T:p.Arg951Trp	coding	Pathogenic
16	89761961	G	C	G89761961C	FANCA	NM_000135.4(FANCA):c.2840C>G:p.Ser947Ter	coding	Pathogenic
16	89761995	C	T	C89761995T	FANCA	NM_000135.4(FANCA):c.2806G>A:p.Glu936Lys	coding	Pathogenic
16	89762007	A	G	A89762007G	FANCA	NM_000135.4(FANCA):c.2794T>C:p.Trp932Arg	coding	Pathogenic
16	89762029	A	G	A89762029G	FANCA	NM_000135.4(FANCA):c.2779-7T>C	noncoding	Benign
16	89764888	A	G	A89764888G	FANCA	NM_000135.4(FANCA):c.2778+2T>C	noncoding	Pathogenic/Likely_pathogenic
16	89764889	C	A	C89764889A	FANCA	NM_000135.4(FANCA):c.2778+1G>T	noncoding	Pathogenic
16	89764889	C	G	C89764889G	FANCA	NM_000135.4(FANCA):c.2778+1G>C	noncoding	Pathogenic
16	89764889	C	T	C89764889T	FANCA	NM_000135.4(FANCA):c.2778+1G>A	noncoding	Pathogenic
16	89764919	G	A	G89764919A	FANCA	NM_000135.4(FANCA):c.2749C>T:p.Arg917Ter	coding	Pathogenic
16	89764930	T	G	T89764930G	FANCA	NM_000135.4(FANCA):c.2738A>C:p.His913Pro	coding	Pathogenic/Likely_pathogenic
16	89764945	A	G	A89764945G	FANCA	NM_000135.4(FANCA):c.2723T>C:p.Leu908Pro	coding	Pathogenic
16	89764958	G	A	G89764958A	FANCA	NM_000135.4(FANCA):c.2710C>T:p.Gln904Ter	coding	Pathogenic
16	89764960	C	T	C89764960T	FANCA	NM_000135.4(FANCA):c.2708G>A:p.Trp903Ter	coding	Pathogenic
16	89764990	C	T	C89764990T	FANCA	NM_000135.4(FANCA):c.2678G>A:p.Trp893Ter	coding	Pathogenic
16	89765027	G	A	G89765027A	FANCA	NM_000135.4(FANCA):c.2641C>T:p.Gln881Ter	coding	Pathogenic
16	89765030	G	A	G89765030A	FANCA	NM_000135.4(FANCA):c.2638C>T:p.Arg880Ter	coding	Pathogenic
16	89765032	G	A	G89765032A	FANCA	NM_000135.4(FANCA):c.2636C>T:p.Ala879Val	coding	Pathogenic
16	89765036	C	G	C89765036G	FANCA	NM_000135.4(FANCA):c.2632G>C:p.Glu878Gln	coding	Pathogenic
16	89765062	T	G	T89765062G	FANCA	NM_000135.4(FANCA):c.2606A>C:p.Gln869Pro	coding	Pathogenic/Likely_pathogenic
16	89765067	C	T	C89765067T	FANCA	NM_000135.4(FANCA):c.2602-1G>A	coding	Pathogenic
16	89765068	T	A	T89765068A	FANCA	NM_000135.4(FANCA):c.2602-2A>T	noncoding	Pathogenic
16	89765068	T	G	T89765068G	FANCA	NM_000135.4(FANCA):c.2602-2A>C	noncoding	Pathogenic
16	89765102	C	A	C89765102A	FANCA	NM_000135.4(FANCA):c.2602-36G>T	noncoding	Benign
16	89765112	A	T	A89765112T	FANCA	NM_000135.4(FANCA):c.2602-46T>A	noncoding	Benign
16	89767140	C	A	C89767140A	FANCA	NM_000135.4(FANCA):c.2601+1G>T	noncoding	Pathogenic
16	89767168	G	C	G89767168C	FANCA	NM_000135.4(FANCA):c.2574C>G:p.Ser858Arg	coding	Benign/Likely_benign
16	89767185	G	A	G89767185A	FANCA	NM_000135.4(FANCA):c.2557C>T:p.Arg853Ter	coding	Pathogenic/Likely_pathogenic
16	89767187	G	T	G89767187T	FANCA	NM_000135.4(FANCA):c.2555C>A:p.Ser852Ter	coding	Pathogenic
16	89767208	A	G	A89767208G	FANCA	NM_000135.4(FANCA):c.2534T>C:p.Leu845Pro	coding	Pathogenic/Likely_pathogenic
16	89767213	G	T	G89767213T	FANCA	NM_000135.4(FANCA):c.2529C>A:p.Tyr843Ter	coding	Pathogenic/Likely_pathogenic
16	89767215	A	C	A89767215C	FANCA	NM_000135.4(FANCA):c.2527T>G:p.Tyr843Asp	coding	Pathogenic
16	89767229	G	C	G89767229C	FANCA	NM_000135.4(FANCA):c.2513C>G:p.Thr838Arg	coding	Pathogenic
16	89769703	T	C	T89769703C	FANCA	NM_000135.4(FANCA):c.2504+134A>G	noncoding	Pathogenic
16	89769835	A	G	A89769835G	FANCA	NM_000135.4(FANCA):c.2504+2T>C	noncoding	Pathogenic
16	89769891	A	G	A89769891G	FANCA	NM_000135.4(FANCA):c.2450T>C:p.Leu817Pro	coding	Pathogenic
16	89769915	C	T	C89769915T	FANCA	NM_000135.4(FANCA):c.2426G>A:p.Gly809Asp	coding	Benign
16	89769943	C	A	C89769943A	FANCA	NM_000135.4(FANCA):c.2398G>T:p.Glu800Ter	coding	Pathogenic
16	89769977	G	A	G89769977A	FANCA	NM_000135.4(FANCA):c.2364C>T:p.Ala788=	coding	Benign
16	89769979	C	G	C89769979G	FANCA	NM_000135.4(FANCA):c.2362G>C:p.Ala788Pro	coding	Pathogenic
16	89769993	C	A	C89769993A	FANCA	NM_000135.4(FANCA):c.2348G>T:p.Gly783Val	coding	Pathogenic
16	89770026	T	C	T89770026C	FANCA	NM_000135.4(FANCA):c.2317-2A>G	noncoding	Pathogenic
16	89770165	C	A	C89770165A	FANCA	NM_000135.4(FANCA):c.2316+1G>T	noncoding	Pathogenic
16	89770168	G	A	G89770168A	FANCA	NM_000135.4(FANCA):c.2314C>T:p.Gln772Ter	coding	Pathogenic
16	89770190	C	T	C89770190T	FANCA	NM_000135.4(FANCA):c.2292G>A:p.Arg764=	coding	Benign
16	89770192	G	A	G89770192A	FANCA	NM_000135.4(FANCA):c.2290C>T:p.Arg764Trp	coding	Pathogenic
16	89770200	A	T	A89770200T	FANCA	NM_000135.4(FANCA):c.2282T>A:p.Val761Glu	coding	Pathogenic
16	89770246	C	A	C89770246A	FANCA	NM_000135.4(FANCA):c.2236G>T:p.Ala746Ser	coding	Benign/Likely_benign
16	89770258	G	T	G89770258T	FANCA	NM_000135.4(FANCA):c.2224C>A:p.Gln742Lys	coding	Pathogenic
16	89770262	G	C	G89770262C	FANCA	NM_000135.4(FANCA):c.2223-3C>G	noncoding	Pathogenic
16	89770570	G	A	G89770570A	FANCA	NM_000135.4(FANCA):c.2216C>T:p.Pro739Leu	coding	Benign/Likely_benign
16	89770597	A	G	A89770597G	FANCA	NM_000135.4(FANCA):c.2189T>C:p.Leu730Pro	coding	Pathogenic
16	89770616	T	G	T89770616G	FANCA	NM_000135.4(FANCA):c.2170A>C:p.Thr724Pro	coding	Pathogenic
16	89770644	C	G	C89770644G	FANCA	NM_000135.4(FANCA):c.2152-10G>C	noncoding	Benign
16	89771670	A	G	A89771670G	FANCA	NM_000135.4(FANCA):c.2151+8T>C	noncoding	Benign
16	89771677	C	T	C89771677T	FANCA	NM_000135.4(FANCA):c.2151+1G>A	noncoding	Pathogenic
16	89771678	C	A	C89771678A	FANCA	NM_000135.4(FANCA):c.2151G>T:p.Met717Ile	coding	Benign
16	89771722	G	A	G89771722A	FANCA	NM_000135.4(FANCA):c.2107C>T:p.Gln703Ter	coding	Pathogenic/Likely_pathogenic
16	89771775	C	G	C89771775G	FANCA	NM_000135.4(FANCA):c.2054G>C:p.Arg685Thr	coding	Pathogenic
16	89771803	G	A	G89771803A	FANCA	NM_000135.4(FANCA):c.2026C>T:p.Gln676Ter	coding	Pathogenic/Likely_pathogenic
16	89771808	G	A	G89771808A	FANCA	NM_000135.4(FANCA):c.2021C>T:p.Ser674Leu	coding	Benign/Likely_benign
16	89771808	G	T	G89771808T	FANCA	NM_000135.4(FANCA):c.2021C>A:p.Ser674Ter	coding	Pathogenic
16	89771815	C	A	C89771815A	FANCA	NM_000135.4(FANCA):c.2015-1G>T	coding	Pathogenic
16	89773280	G	A	G89773280A	FANCA	NM_000135.4(FANCA):c.2005C>T:p.Gln669Ter	coding	Pathogenic
16	89773304	T	A	T89773304A	FANCA	NM_000135.4(FANCA):c.1981A>T:p.Arg661Ter	coding	Pathogenic
16	89773306	A	G	A89773306G	FANCA	NM_000135.4(FANCA):c.1979T>C:p.Leu660Pro	coding	Pathogenic
16	89773344	C	T	C89773344T	FANCA	NM_000135.4(FANCA):c.1941G>A:p.Glu647=	coding	Benign
16	89773357	G	C	G89773357C	FANCA	NM_000135.4(FANCA):c.1928C>G:p.Pro643Arg	coding	Benign
16	89773358	G	C	G89773358C	FANCA	NM_000135.4(FANCA):c.1927C>G:p.Pro643Ala	coding	Benign
16	89775735	A	T	A89775735T	FANCA	NM_000135.4(FANCA):c.1900+7T>A	noncoding	Benign
16	89775812	T	C	T89775812C	FANCA	NM_000135.4(FANCA):c.1830A>G:p.Ala610=	coding	Benign/Likely_benign
16	89775816	C	T	C89775816T	FANCA	NM_000135.4(FANCA):c.1827-1G>A	coding	Pathogenic
16	89778786	A	G	A89778786G	FANCA	NM_000135.4(FANCA):c.1826+15T>C	noncoding	Benign
16	89778789	G	A	G89778789A	FANCA	NM_000135.4(FANCA):c.1826+12C>T	noncoding	Benign/Likely_benign
16	89778835	C	T	C89778835T	FANCA	NM_000135.4(FANCA):c.1792G>A:p.Asp598Asn	coding	Pathogenic
16	89778879	A	G	A89778879G	FANCA	NM_000135.4(FANCA):c.1777-29T>C	noncoding	Benign
16	89778948	G	A	G89778948A	FANCA	NM_000135.4(FANCA):c.1771C>T:p.Arg591Ter	coding	Pathogenic
16	89779901	C	T	C89779901T	FANCA	NM_000135.4(FANCA):c.1683G>A:p.Thr561=	coding	Benign
16	89779939	G	A	G89779939A	FANCA	NM_000135.4(FANCA):c.1645C>T:p.Gln549Ter	coding	Pathogenic
16	89779958	C	A	C89779958A	FANCA	NM_000135.4(FANCA):c.1627-1G>T	coding	Pathogenic
16	89779989	A	G	A89779989G	FANCA	NM_000135.4(FANCA):c.1627-32T>C	noncoding	Benign
16	89782938	T	C	T89782938C	FANCA	NM_000135.4(FANCA):c.1567-20A>G	noncoding	Pathogenic
16	89783004	T	G	T89783004G	FANCA	NM_000135.4(FANCA):c.1566+3A>C	noncoding	Pathogenic
16	89783072	C	T	C89783072T	FANCA	NM_000135.4(FANCA):c.1501G>A:p.Gly501Ser	coding	Benign
16	89784853	C	A	C89784853A	FANCA	NM_000135.4(FANCA):c.1470+1G>T	noncoding	Pathogenic
16	89784854	C	T	C89784854T	FANCA	NM_000135.4(FANCA):c.1470G>A:p.Gln490=	coding	Pathogenic
16	89784860	G	C	G89784860C	FANCA	NM_000135.4(FANCA):c.1464C>G:p.Tyr488Ter	coding	Pathogenic
16	89784891	G	C	G89784891C	FANCA	NM_000135.4(FANCA):c.1433C>G:p.Ser478Ter	coding	Pathogenic
16	89784946	G	A	G89784946A	FANCA	NM_000135.4(FANCA):c.1378C>T:p.Arg460Ter	coding	Pathogenic
16	89784971	G	A	G89784971A	FANCA	NM_000135.4(FANCA):c.1360-7C>T	noncoding	Benign
16	89784974	G	C	G89784974C	FANCA	NM_000135.4(FANCA):c.1360-10C>G	noncoding	Benign
16	89791393	G	A	G89791393A	FANCA	NM_000135.4(FANCA):c.1359+10C>T	noncoding	Benign/Likely_benign
16	89791402	C	G	C89791402G	FANCA	NM_000135.4(FANCA):c.1359+1G>C	noncoding	Pathogenic
16	89791422	G	C	G89791422C	FANCA	NM_000135.4(FANCA):c.1340C>G:p.Ser447Ter	coding	Pathogenic
16	89791444	C	A	C89791444A	FANCA	NM_000135.4(FANCA):c.1318G>T:p.Glu440Ter	coding	Pathogenic
16	89791458	C	T	C89791458T	FANCA	NM_000135.4(FANCA):c.1304G>A:p.Arg435His	coding	Pathogenic
16	89791459	G	A	G89791459A	FANCA	NM_000135.4(FANCA):c.1303C>T:p.Arg435Cys	coding	Pathogenic/Likely_pathogenic
16	89791472	C	T	C89791472T	FANCA	NM_000135.4(FANCA):c.1290G>A:p.Ala430=	coding	Benign
16	89791527	G	A	G89791527A	FANCA	NM_000135.4(FANCA):c.1235C>T:p.Ala412Val	coding	Benign
16	89791538	T	C	T89791538C	FANCA	NM_000135.4(FANCA):c.1226-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	89791556	T	C	T89791556C	FANCA	NM_000135.4(FANCA):c.1226-20A>G	noncoding	Benign
16	89791932	A	C	A89791932C	FANCA	NM_000135.4(FANCA):c.1220T>G:p.Leu407Arg	coding	Pathogenic
16	89791994	C	T	C89791994T	FANCA	NM_000135.4(FANCA):c.1158G>A:p.Trp386Ter	coding	Pathogenic
16	89791999	G	A	G89791999A	FANCA	NM_000135.4(FANCA):c.1153C>T:p.His385Tyr	coding	Pathogenic
16	89792009	C	A	C89792009A	FANCA	NM_000135.4(FANCA):c.1143G>T:p.Thr381=	coding	Benign
16	89792067	A	G	A89792067G	FANCA	NM_000135.4(FANCA):c.1085T>C:p.Leu362Pro	coding	Pathogenic
16	89792069	C	T	C89792069T	FANCA	NM_000135.4(FANCA):c.1084-1G>A	coding	Pathogenic
16	89792097	T	C	T89792097C	FANCA	NM_000135.4(FANCA):c.1084-29A>G	noncoding	Benign
16	89792117	C	G	C89792117G	FANCA	NM_000135.4(FANCA):c.1084-49G>C	noncoding	Benign
16	89792481	A	C	A89792481C	FANCA	NM_000135.4(FANCA):c.1073T>G:p.Leu358Arg	coding	Pathogenic
16	89792507	C	T	C89792507T	FANCA	NM_000135.4(FANCA):c.1047G>A:p.Ala349=	coding	Benign/Likely_benign
16	89792527	G	A	G89792527A	FANCA	NM_000135.4(FANCA):c.1027C>T:p.Gln343Ter	coding	Pathogenic
16	89795980	A	G	A89795980G	FANCA	NM_000135.4(FANCA):c.932T>C:p.Ile311Thr	coding	Benign/Likely_benign
16	89796009	C	A	C89796009A	FANCA	NM_000135.4(FANCA):c.903G>T:p.Val301=	coding	Benign
16	89796019	C	T	C89796019T	FANCA	NM_000135.4(FANCA):c.894-1G>A	coding	Pathogenic
16	89796026	T	C	T89796026C	FANCA	NM_000135.4(FANCA):c.894-8A>G	noncoding	Benign
16	89798246	G	T	G89798246T	FANCA	NM_000135.4(FANCA):c.893+920C>A	noncoding	Pathogenic
16	89799161	C	G	C89799161G	FANCA	NM_000135.4(FANCA):c.893+5G>C	noncoding	Pathogenic
16	89799165	C	A	C89799165A	FANCA	NM_000135.4(FANCA):c.893+1G>T	noncoding	Pathogenic
16	89799197	C	A	C89799197A	FANCA	NM_000135.4(FANCA):c.862G>T:p.Glu288Ter	coding	Pathogenic
16	89799203	G	A	G89799203A	FANCA	NM_000135.4(FANCA):c.856C>T:p.Gln286Ter	coding	Pathogenic/Likely_pathogenic
16	89799233	C	A	C89799233A	FANCA	NM_000135.4(FANCA):c.827-1G>T	coding	Pathogenic
16	89799595	A	G	A89799595G	FANCA	NM_000135.4(FANCA):c.826+10T>C	noncoding	Benign
16	89799611	G	A	G89799611A	FANCA	NM_000135.4(FANCA):c.820C>T:p.Leu274=	coding	Pathogenic
16	89799620	G	A	G89799620A	FANCA	NM_000135.4(FANCA):c.811C>T:p.Gln271Ter	coding	Pathogenic/Likely_pathogenic
16	89799635	T	C	T89799635C	FANCA	NM_000135.4(FANCA):c.796A>G:p.Thr266Ala	coding	Benign
16	89799639	C	G	C89799639G	FANCA	NM_000135.4(FANCA):c.793-1G>C	coding	Pathogenic
16	89799639	C	T	C89799639T	FANCA	NM_000135.4(FANCA):c.793-1G>A	coding	Pathogenic
16	89799640	T	G	T89799640G	FANCA	NM_000135.4(FANCA):c.793-2A>C	noncoding	Pathogenic
16	89803259	C	T	C89803259T	FANCA	NM_000135.4(FANCA):c.792G>A:p.Gln264=	coding	Pathogenic
16	89803261	G	A	G89803261A	FANCA	NM_000135.4(FANCA):c.790C>T:p.Gln264Ter	coding	Pathogenic
16	89803296	T	C	T89803296C	FANCA	NM_000135.4(FANCA):c.755A>G:p.Asp252Gly	coding	Benign/Likely_benign
16	89803333	G	A	G89803333A	FANCA	NM_000135.4(FANCA):c.718C>T:p.Gln240Ter	coding	Pathogenic
16	89803346	A	G	A89803346G	FANCA	NM_000135.4(FANCA):c.710-5T>C	noncoding	Pathogenic
16	89803353	T	C	T89803353C	FANCA	NM_000135.4(FANCA):c.710-12A>G	noncoding	Benign
16	89805275	C	T	C89805275T	FANCA	NM_000135.4(FANCA):c.709+5G>A	noncoding	Pathogenic/Likely_pathogenic
16	89805279	C	T	C89805279T	FANCA	NM_000135.4(FANCA):c.709+1G>A	noncoding	Pathogenic
16	89805306	G	C	G89805306C	FANCA	NM_000135.4(FANCA):c.683C>G:p.Ala228Gly	coding	Pathogenic
16	89805325	C	A	C89805325A	FANCA	NM_000135.4(FANCA):c.664G>T:p.Glu222Ter	coding	Pathogenic
16	89805360	A	C	A89805360C	FANCA	NM_000135.4(FANCA):c.629T>G:p.Leu210Arg	coding	Pathogenic
16	89805388	G	A	G89805388A	FANCA	NM_000135.4(FANCA):c.601C>T:p.Pro201Ser	coding	Benign/Likely_benign
16	89805393	C	G	C89805393G	FANCA	NM_000135.4(FANCA):c.597-1G>C	coding	Pathogenic/Likely_pathogenic
16	89805394	T	C	T89805394C	FANCA	NM_000135.4(FANCA):c.597-2A>G	noncoding	Pathogenic
16	89808294	C	G	C89808294G	FANCA	NM_000135.4(FANCA):c.596G>C:p.Ser199Thr	coding	Pathogenic
16	89808341	C	T	C89808341T	FANCA	NM_000135.4(FANCA):c.549G>A:p.Trp183Ter	coding	Pathogenic
16	89808342	C	T	C89808342T	FANCA	NM_000135.4(FANCA):c.548G>A:p.Trp183Ter	coding	Pathogenic
16	89808348	G	A	G89808348A	FANCA	NM_000135.4(FANCA):c.542C>T:p.Ala181Val	coding	Benign/Likely_benign
16	89810716	C	T	C89810716T	FANCA	NM_000135.4(FANCA):c.513G>A:p.Trp171Ter	coding	Pathogenic
16	89810724	C	A	C89810724A	FANCA	NM_000135.4(FANCA):c.505G>T:p.Glu169Ter	coding	Pathogenic
16	89810759	G	A	G89810759A	FANCA	NM_000135.4(FANCA):c.470C>T:p.Ala157Val	coding	Pathogenic
16	89810781	C	A	C89810781A	FANCA	NM_000135.4(FANCA):c.448G>T:p.Glu150Ter	coding	Pathogenic
16	89810802	T	A	T89810802A	FANCA	NM_000135.4(FANCA):c.427A>T:p.Lys143Ter	coding	Pathogenic
16	89810804	T	C	T89810804C	FANCA	NM_000135.4(FANCA):c.427-2A>G	noncoding	Pathogenic
16	89810827	A	T	A89810827T	FANCA	NM_000135.4(FANCA):c.427-25T>A	noncoding	Benign
16	89810931	T	A	T89810931A	FANCA	NM_000135.4(FANCA):c.424A>T:p.Arg142Ter	coding	Pathogenic/Likely_pathogenic
16	89810937	C	A	C89810937A	FANCA	NM_000135.4(FANCA):c.418G>T:p.Glu140Ter	coding	Pathogenic
16	89810956	G	A	G89810956A	FANCA	NM_000135.4(FANCA):c.399C>T:p.His133=	coding	Benign
16	89811060	G	A	G89811060A	FANCA	NM_000135.4(FANCA):c.295C>T:p.Gln99Ter	coding	Pathogenic
16	89814517	T	G	T89814517G	FANCA	NM_000135.4(FANCA):c.283+3A>C	noncoding	Pathogenic
16	89814519	C	A	C89814519A	FANCA	NM_000135.4(FANCA):c.283+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	89814528	G	C	G89814528C	FANCA	NM_000135.4(FANCA):c.275C>G:p.Ser92Ter	coding	Pathogenic
16	89814528	G	T	G89814528T	FANCA	NM_000135.4(FANCA):c.275C>A:p.Ser92Ter	coding	Pathogenic
16	89814545	A	T	A89814545T	FANCA	NM_000135.4(FANCA):c.258T>A:p.Tyr86Ter	coding	Pathogenic
16	89814566	G	A	G89814566A	FANCA	NM_000135.4(FANCA):c.237C>T:p.Asp79=	coding	Benign
16	89814596	A	T	A89814596T	FANCA	NM_000135.4(FANCA):c.207T>A:p.Cys69Ter	coding	Pathogenic
16	89814614	C	G	C89814614G	FANCA	NM_000135.4(FANCA):c.190-1G>C	coding	Pathogenic
16	89815912	G	A	G89815912A	FANCA	NM_000135.4(FANCA):c.154C>T:p.Arg52Ter	coding	Pathogenic
16	89815938	A	T	A89815938T	FANCA	NM_000135.4(FANCA):c.128T>A:p.Leu43Ter	coding	Pathogenic
16	89815951	T	G	T89815951G	FANCA	NM_000135.4(FANCA):c.115A>C:p.Arg39=	coding	Benign/Likely_benign
16	89815966	T	A	T89815966A	FANCA	NM_000135.4(FANCA):c.100A>T:p.Lys34Ter	coding	Pathogenic
16	89815975	T	A	T89815975A	FANCA	NM_000135.4(FANCA):c.91A>T:p.Lys31Ter	coding	Pathogenic
16	89816546	C	A	C89816546A	FANCA	NM_000135.4(FANCA):c.70G>T:p.Glu24Ter	coding	Pathogenic
16	89816550	C	T	C89816550T	FANCA	NM_000135.4(FANCA):c.66G>A:p.Trp22Ter	coding	Pathogenic
16	89816551	C	T	C89816551T	FANCA	NM_000135.4(FANCA):c.65G>A:p.Trp22Ter	coding	Pathogenic/Likely_pathogenic
16	89816592	G	C	G89816592C	FANCA	NM_000135.4(FANCA):c.24C>G:p.Asn8Lys	coding	Benign
16	89816595	C	A	C89816595A	FANCA	NM_000135.4(FANCA):c.21G>T:p.Pro7=	coding	Benign
16	89816599	A	T	A89816599T	FANCA	NM_000135.4(FANCA):c.17T>A:p.Val6Asp	coding	Benign
16	89816602	C	T	C89816602T	FANCA	NM_000135.4(FANCA):c.14G>A:p.Trp5Ter	coding	Pathogenic
16	89816614	A	C	A89816614C	FANCA	NM_000135.4(FANCA):c.2T>G:p.Met1Arg	coding	Pathogenic
16	89816614	A	G	A89816614G	FANCA	NM_000135.4(FANCA):c.2T>C:p.Met1Thr	coding	Pathogenic
16	89816615	T	C	T89816615C	FANCA	NM_000135.4(FANCA):c.1A>G:p.Met1Val	coding	Pathogenic
16	89917888	C	G	C89917888G	MC1R	NC_000016.10:g.89917888C>G	noncoding	Benign
16	89917962	T	C	T89917962C	MC1R	NM_002386.3(MC1R):c.-1297T>C	noncoding	Benign
16	89918008	C	T	C89918008T	MC1R	NM_002386.3(MC1R):c.-1251C>T	noncoding	Benign
16	89918025	C	T	C89918025T	MC1R	NM_002386.3(MC1R):c.-1234C>T	noncoding	Benign
16	89918167	G	A	G89918167A	MC1R	NC_000016.10:g.89918167G>A	noncoding	Benign
16	89918196	T	C	T89918196C	MC1R	NM_002386.3(MC1R):c.-1063T>C	noncoding	Benign
16	89918243	C	G	C89918243G	MC1R	NC_000016.10:g.89918243C>G	noncoding	Benign
16	89918331	A	G	A89918331G	MC1R	NM_002386.3(MC1R):c.-928A>G	noncoding	Benign
16	89918723	C	T	C89918723T	MC1R	NM_002386.3(MC1R):c.-536C>T	noncoding	Benign
16	89918724	G	A	G89918724A	MC1R	NM_002386.3(MC1R):c.-535G>A	noncoding	Benign
16	89918769	C	T	C89918769T	MC1R	NM_002386.3(MC1R):c.-490C>T	noncoding	Benign
16	89918809	C	T	C89918809T	MC1R	NC_000016.10:g.89918809C>T	noncoding	Benign
16	89918814	G	A	G89918814A	MC1R	NM_002386.3(MC1R):c.-445G>A	noncoding	Benign
16	89918885	G	A	G89918885A	MC1R	NM_002386.3(MC1R):c.-374G>A	noncoding	Benign
16	89918903	A	G	A89918903G	MC1R	NM_002386.3(MC1R):c.-356A>G	noncoding	Benign
16	89918936	G	A	G89918936A	MC1R	NM_002386.3(MC1R):c.-323G>A	noncoding	Benign
16	89919033	A	T	A89919033T	MC1R	NM_002386.3(MC1R):c.-226A>T	noncoding	Benign
16	89919145	G	A	G89919145A	MC1R	NM_002386.3(MC1R):c.-114G>A	noncoding	Benign
16	89919246	C	T	C89919246T	MC1R	NM_002386.4(MC1R):c.-13C>T	noncoding	Benign
16	89919391	T	C	T89919391C	MC1R	NM_002386.3(MC1R):c.133T>C:p.Phe45Leu	coding	Benign/Likely_benign
16	89919436	G	T	G89919436T	MC1R	NM_002386.3(MC1R):c.178G>T:p.Val60Leu	coding	Benign
16	89919458	G	A	G89919458A	MC1R	NM_002386.3(MC1R):c.200G>A:p.Arg67Gln	coding	Benign/Likely_benign
16	89919499	G	C	G89919499C	MC1R	NM_002386.4(MC1R):c.241G>C:p.Ala81Pro	coding	Benign
16	89919532	G	A	G89919532A	MC1R	NM_002386.3(MC1R):c.274G>A:p.Val92Met	coding	Benign
16	89919567	C	T	C89919567T	MC1R	NM_002386.3(MC1R):c.309C>T:p.Ala103=	coding	Benign/Likely_benign
16	89919576	G	A	G89919576A	MC1R	NM_002386.3(MC1R):c.318G>A:p.Leu106=	coding	Benign
16	89919591	G	A	G89919591A	MC1R	NM_002386.3(MC1R):c.333G>A:p.Ala111=	coding	Benign
16	89919622	G	A	G89919622A	MC1R	NM_002386.3(MC1R):c.364G>A:p.Val122Met	coding	Benign/Likely_benign
16	89919657	C	T	C89919657T	MC1R	NM_002386.3(MC1R):c.399C>T:p.Cys133=	coding	Benign/Likely_benign
16	89919672	C	T	C89919672T	MC1R	NM_002386.3(MC1R):c.414C>T:p.Ile138=	coding	Benign
16	89919683	G	A	G89919683A	MC1R	NM_002386.3(MC1R):c.425G>A:p.Arg142His	coding	Benign/Likely_benign
16	89919711	C	G	C89919711G	MC1R	NM_002386.3(MC1R):c.453C>G:p.Arg151=	coding	Benign/Likely_benign
16	89919724	G	C	G89919724C	MC1R	NM_002386.3(MC1R):c.466G>C:p.Val156Leu	coding	Benign/Likely_benign
16	89919746	G	A	G89919746A	MC1R	NM_002386.3(MC1R):c.488G>A:p.Arg163Gln	coding	Benign
16	89919755	C	G	C89919755G	MC1R	NM_002386.3(MC1R):c.497C>G:p.Ala166Gly	coding	Benign/Likely_benign
16	89919773	G	T	G89919773T	MC1R	NM_002386.3(MC1R):c.515G>T:p.Ser172Ile	coding	Benign/Likely_benign
16	89919789	G	A	G89919789A	MC1R	NM_002386.3(MC1R):c.531G>A:p.Thr177=	coding	Benign
16	89919813	C	T	C89919813T	MC1R	NM_002386.3(MC1R):c.555C>T:p.His185=	coding	Benign/Likely_benign
16	89919844	T	C	T89919844C	MC1R	NM_002386.3(MC1R):c.586T>C:p.Phe196Leu	coding	Benign/Likely_benign
16	89919891	G	A	G89919891A	MC1R	NM_002386.3(MC1R):c.633G>A:p.Leu211=	coding	Benign
16	89919957	G	A	G89919957A	MC1R	NM_002386.3(MC1R):c.699G>A:p.Gln233=	coding	Benign
16	89920050	C	T	C89920050T	MC1R	NM_002386.3(MC1R):c.792C>T:p.Ile264=	coding	Benign/Likely_benign
16	89920077	C	T	C89920077T	MC1R	NM_002386.3(MC1R):c.819C>T:p.Cys273=	coding	Benign/Likely_benign
16	89920127	A	G	A89920127G	MC1R	NM_002386.4(MC1R):c.869A>G:p.Asn290Ser	coding	Benign
16	89920158	C	T	C89920158T	MC1R	NM_002386.3(MC1R):c.900C>T:p.Phe300=	coding	Benign/Likely_benign
16	89920200	A	G	A89920200G	MC1R	NM_002386.3(MC1R):c.942A>G:p.Thr314=	coding	Benign
16	89920224	G	A	G89920224A	MC1R	NM_002386.3(MC1R):c.*12G>A	noncoding	Benign
16	89920288	C	T	C89920288T	MC1R	NM_002386.4(MC1R):c.*76C>T	noncoding	Benign
16	89920352	A	G	A89920352G	MC1R	NM_002386.3(MC1R):c.*140A>G	noncoding	Benign
16	89920369	C	A	C89920369A	MC1R	NM_002386.3(MC1R):c.*157C>A	noncoding	Benign
16	89920421	C	A	C89920421A	MC1R	NM_002386.4(MC1R):c.*209C>A	noncoding	Benign
16	89920549	A	G	A89920549G	MC1R	NM_002386.3(MC1R):c.*337A>G	noncoding	Benign
16	89920592	C	G	C89920592G	MC1R	NM_002386.3(MC1R):c.*380C>G	noncoding	Benign
16	89920793	A	G	A89920793G	MC1R	NM_002386.3(MC1R):c.*581A>G	noncoding	Benign
16	89920973	C	A	C89920973A	MC1R	NC_000016.10:g.89920973C>A	noncoding	Benign
16	89932386	G	A	G89932386A	TUBB3	NM_006086.4(TUBB3):c.58-185G>A	noncoding	Benign
16	89933463	C	G	C89933463G	TUBB3	NM_006086.4(TUBB3):c.167-5C>G	noncoding	Benign/Likely_benign
16	89933486	G	A	G89933486A	TUBB3	NM_006086.4(TUBB3):c.185G>A:p.Arg62Gln	coding	Pathogenic
16	89933512	G	A	G89933512A	TUBB3	NM_006086.4(TUBB3):c.211G>A:p.Gly71Arg	coding	Pathogenic
16	89933529	C	T	C89933529T	TUBB3	NM_006086.4(TUBB3):c.228C>T:p.Val76=	coding	Benign
16	89933586	C	T	C89933586T	TUBB3	NM_006086.4(TUBB3):c.277+8C>T	noncoding	Benign
16	89933636	C	T	C89933636T	TUBB3	NM_006086.4(TUBB3):c.277+58C>T	noncoding	Benign
16	89934517	T	C	T89934517C	TUBB3	NM_006086.4(TUBB3):c.278-212T>C	noncoding	Benign
16	89934886	C	T	C89934886T	TUBB3	NM_006086.4(TUBB3):c.435C>T:p.Ser145=	coding	Benign
16	89934898	G	A	G89934898A	TUBB3	NM_006086.4(TUBB3):c.447G>A:p.Thr149=	coding	Benign/Likely_benign
16	89934974	G	C	G89934974C	TUBB3	NM_006086.4(TUBB3):c.523G>C:p.Val175Leu	coding	Pathogenic
16	89934984	C	T	C89934984T	TUBB3	NM_006086.4(TUBB3):c.533C>T:p.Thr178Met	coding	Pathogenic/Likely_pathogenic
16	89935028	G	A	G89935028A	TUBB3	NM_006086.4(TUBB3):c.577G>A:p.Val193Met	coding	Pathogenic
16	89935064	G	A	G89935064A	TUBB3	NM_006086.4(TUBB3):c.613G>A:p.Glu205Lys	coding	Pathogenic
16	89935117	C	T	C89935117T	TUBB3	NM_006086.4(TUBB3):c.666C>T:p.Tyr222=	coding	Benign/Likely_benign
16	89935140	C	T	C89935140T	TUBB3	NM_006086.4(TUBB3):c.689C>T:p.Ser230Leu	coding	Pathogenic/Likely_pathogenic
16	89935153	C	T	C89935153T	TUBB3	NM_006086.4(TUBB3):c.702C>T:p.Ser234=	coding	Benign
16	89935235	C	T	C89935235T	TUBB3	NM_006086.4(TUBB3):c.784C>T:p.Arg262Cys	coding	Pathogenic
16	89935236	G	A	G89935236A	TUBB3	NM_006086.4(TUBB3):c.785G>A:p.Arg262His	coding	Pathogenic/Likely_pathogenic
16	89935313	G	A	G89935313A	TUBB3	NM_006086.4(TUBB3):c.862G>A:p.Glu288Lys	coding	Pathogenic/Likely_pathogenic
16	89935355	G	A	G89935355A	TUBB3	NM_006086.4(TUBB3):c.904G>A:p.Ala302Thr	coding	Pathogenic
16	89935356	C	T	C89935356T	TUBB3	NM_006086.4(TUBB3):c.905C>T:p.Ala302Val	coding	Pathogenic
16	89935418	A	G	A89935418G	TUBB3	NM_006086.4(TUBB3):c.967A>G:p.Met323Val	coding	Pathogenic
16	89935589	C	T	C89935589T	TUBB3	NM_006086.4(TUBB3):c.1138C>T:p.Arg380Cys	coding	Pathogenic
16	89935613	A	G	A89935613G	TUBB3	NM_006086.4(TUBB3):c.1162A>G:p.Met388Val	coding	Pathogenic
16	89935623	G	T	G89935623T	TUBB3	NM_006086.4(TUBB3):c.1172G>T:p.Arg391Leu	coding	Pathogenic
16	89935666	G	A	G89935666A	TUBB3	NM_006086.4(TUBB3):c.1215G>A:p.Glu405=	coding	Benign/Likely_benign
16	89935679	G	A	G89935679A	TUBB3	NM_006086.4(TUBB3):c.1228G>A:p.Glu410Lys	coding	Pathogenic
16	89935700	G	A	G89935700A	TUBB3	NM_006086.4(TUBB3):c.1249G>A:p.Asp417Asn	coding	Pathogenic
16	89935700	G	C	G89935700C	TUBB3	NM_006086.4(TUBB3):c.1249G>C:p.Asp417His	coding	Pathogenic
16	89935768	C	T	C89935768T	TUBB3	NM_006086.4(TUBB3):c.1317C>T:p.Asp439=	coding	Benign
16	89949498	C	T	C89949498T	DEF8	NM_001242818.2(DEF8):c.-26C>T	coding	Benign
16	89954337	C	G	C89954337G	DEF8	NM_001242818.2(DEF8):c.85C>G:p.Gln29Glu	coding	Benign
16	89957654	G	A	G89957654A	DEF8	NM_001242818.2(DEF8):c.366G>A:p.Glu122=	coding	Benign
16	89963395	G	A	G89963395A	DEF8	NM_001242818.2(DEF8):c.954G>A:p.Pro318=	coding	Benign
16	90027670	A	G	A90027670G	GAS8	NM_001481.3(GAS8):c.38A>G:p.Lys13Arg	coding	Benign
16	90027677	C	A	C90027677A	GAS8	NM_001481.3(GAS8):c.45C>A:p.Thr15=	coding	Benign
16	90031453	G	A	G90031453A	GAS8	NM_001481.3(GAS8):c.245G>A:p.Arg82Gln	coding	Benign
16	90032836	G	C	G90032836C	GAS8	NM_001481.3(GAS8):c.407G>C:p.Ser136Thr	coding	Benign
16	90032905	T	A	T90032905A	GAS8	NM_001481.3(GAS8):c.476T>A:p.Val159Glu	coding	Benign
16	90035697	C	T	C90035697T	GAS8	NM_001481.3(GAS8):c.550+10C>T	noncoding	Benign
16	90036425	G	A	G90036425A	GAS8	NM_001481.3(GAS8):c.595G>A:p.Glu199Lys	coding	Benign
16	90036427	A	G	A90036427G	GAS8	NM_001481.3(GAS8):c.597A>G:p.Glu199=	coding	Benign
16	90037251	G	A	G90037251A	GAS8	NM_001481.3(GAS8):c.776G>A:p.Arg259Gln	coding	Benign
16	90037291	G	A	G90037291A	GAS8	NM_001481.3(GAS8):c.816G>A:p.Val272=	coding	Benign
16	90037308	G	A	G90037308A	GAS8	NM_001481.3(GAS8):c.833G>A:p.Arg278His	coding	Benign
16	90037764	C	A	C90037764A	GAS8	NM_001481.3(GAS8):c.927C>A:p.Cys309Ter	coding	Pathogenic
16	90037837	C	T	C90037837T	GAS8	NM_001481.3(GAS8):c.1000C>T:p.Arg334Ter	coding	Pathogenic
16	90040317	C	T	C90040317T	GAS8	NM_001481.3(GAS8):c.1029C>T:p.Asp343=	coding	Benign
16	90040338	C	T	C90040338T	GAS8	NM_001481.3(GAS8):c.1050C>T:p.Thr350=	coding	Benign
16	90040357	C	T	C90040357T	GAS8	NM_001481.3(GAS8):c.1069C>T:p.Gln357Ter	coding	Pathogenic
16	90040394	G	A	G90040394A	GAS8	NM_001481.3(GAS8):c.1106G>A:p.Arg369His	coding	Benign
16	90040446	C	T	C90040446T	GAS8	NM_001481.3(GAS8):c.1158C>T:p.Asn386=	coding	Benign
16	90040476	T	G	T90040476G	GAS8	NM_001481.3(GAS8):c.1188T>G:p.Pro396=	coding	Benign
16	90043303	A	G	A90043303G	GAS8	NM_001481.3(GAS8):c.1395A>G:p.Thr465=	coding	Benign
17	519811	T	C	T519811C	VPS53	NM_001128159.3(VPS53):c.2328+15A>G	noncoding	Benign
17	521640	G	A	G521640A	VPS53	NM_001128159.3(VPS53):c.2184C>T:p.Ile728=	coding	Benign
17	521694	G	C	G521694C	VPS53	NM_001128159.3(VPS53):c.2130C>G:p.Leu710=	coding	Benign
17	532656	C	T	C532656T	VPS53	NM_001128159.3(VPS53):c.2085+186G>A	coding	Benign
17	532843	T	C	T532843C	VPS53	NM_001128159.3(VPS53):c.2084A>G:p.Gln695Arg	coding	Pathogenic
17	532865	T	C	T532865C	VPS53	NM_001128159.3(VPS53):c.2062A>G:p.Ile688Val	coding	Benign/Likely_benign
17	532881	G	A	G532881A	VPS53	NM_001128159.3(VPS53):c.2046C>T:p.Leu682=	coding	Benign
17	537247	A	G	A537247G	VPS53	NM_001128159.3(VPS53):c.1867-71T>C	noncoding	Benign
17	537257	G	A	G537257A	VPS53	NM_001128159.3(VPS53):c.1867-81C>T	noncoding	Benign
17	537468	G	A	G537468A	VPS53	NM_001128159.3(VPS53):c.1867-292C>T	noncoding	Benign
17	552211	C	A	C552211A	VPS53	NM_001128159.3(VPS53):c.1788-261G>T	noncoding	Benign
17	560456	C	T	C560456T	VPS53	NM_001128159.3(VPS53):c.1674G>A:p.Thr558=	coding	Benign/Likely_benign
17	562498	C	T	C562498T	VPS53	NM_001128159.3(VPS53):c.1556+5G>A	noncoding	Pathogenic
17	562500	C	T	C562500T	VPS53	NM_001128159.3(VPS53):c.1556+3G>A	noncoding	Benign
17	562535	G	A	G562535A	VPS53	NM_001128159.3(VPS53):c.1524C>T:p.Tyr508=	coding	Benign
17	586056	C	G	C586056G	VPS53	NM_001128159.3(VPS53):c.1313+214G>C	noncoding	Benign
17	601738	C	G	C601738G	VPS53	NM_001128159.3(VPS53):c.1218+57G>C	noncoding	Benign
17	601795	T	C	T601795C	VPS53	NM_001128159.3(VPS53):c.1218A>G:p.Gln406=	coding	Benign
17	601865	T	C	T601865C	VPS53	NM_001128159.3(VPS53):c.1148A>G:p.Asn383Ser	coding	Benign
17	601889	A	C	A601889C	VPS53	NM_001128159.3(VPS53):c.1124T>G:p.Leu375Arg	coding	Benign
17	601899	G	A	G601899A	VPS53	NM_001128159.3(VPS53):c.1117-3C>T	noncoding	Benign
17	601987	G	C	G601987C	VPS53	NM_001128159.3(VPS53):c.1117-91C>G	noncoding	Benign
17	602050	G	A	G602050A	VPS53	NM_001128159.3(VPS53):c.1117-154C>T	noncoding	Benign
17	623237	G	T	G623237T	VPS53	NM_001128159.3(VPS53):c.1116+296C>A	noncoding	Benign
17	623560	G	A	G623560A	VPS53	NM_001128159.3(VPS53):c.1089C>T:p.Ser363=	coding	Benign
17	623667	G	T	G623667T	VPS53	NM_001128159.3(VPS53):c.982C>A:p.Leu328Ile	coding	Benign
17	631285	T	G	T631285G	VPS53	NM_001128159.3(VPS53):c.687+265A>C	noncoding	Benign
17	653245	C	A	C653245A	VPS53	NM_001128159.3(VPS53):c.608+46G>T	noncoding	Benign
17	653644	A	G	A653644G	VPS53	NM_001128159.3(VPS53):c.489-234T>C	noncoding	Benign
17	697262	C	T	C697262T	VPS53	NM_001128159.3(VPS53):c.285+156G>A	noncoding	Benign
17	697495	A	G	A697495G	VPS53	NM_001128159.3(VPS53):c.219-11T>C	noncoding	Benign
17	697714	T	C	T697714C	VPS53	NM_001128159.3(VPS53):c.219-230A>G	noncoding	Benign
17	697778	C	A	C697778A	VPS53	NM_001128159.3(VPS53):c.219-294G>T	noncoding	Benign
17	699021	G	T	G699021T	VPS53	NM_001128159.3(VPS53):c.218+310C>A	noncoding	Benign
17	699229	G	C	G699229C	VPS53	NM_001128159.3(VPS53):c.218+102C>G	noncoding	Benign
17	710261	A	C	A710261C	VPS53	NM_001128159.3(VPS53):c.168+272T>G	noncoding	Benign
17	710345	C	T	C710345T	VPS53	NM_001128159.3(VPS53):c.168+188G>A	noncoding	Benign
17	714629	G	A	G714629A	VPS53	NM_001128159.3(VPS53):c.81C>T:p.Ile27=	coding	Benign
17	714753	C	T	C714753T	VPS53	NM_001128159.3(VPS53):c.-44G>A	noncoding	Benign
17	714799	G	A	G714799A	VPS53	NM_001128159.3(VPS53):c.-90C>T	noncoding	Benign
17	715168	C	A	C715168A	VPS53	NC_000017.11:g.715168C>A	noncoding	Benign
17	745039	A	G	A745039G	GEMIN4	NM_015721.3(GEMIN4):c.3004T>C:p.Tyr1002His	coding	Benign
17	745069	T	C	T745069C	GEMIN4	NM_015721.3(GEMIN4):c.2974A>G:p.Met992Val	coding	Benign
17	745306	C	T	C745306T	GEMIN4	NM_015721.3(GEMIN4):c.2737G>A:p.Val913Ile	coding	Benign
17	745591	A	G	A745591G	GEMIN4	NM_015721.3(GEMIN4):c.2452T>C:p.Trp818Arg	coding	Pathogenic/Likely_pathogenic
17	745697	G	C	G745697C	GEMIN4	NM_015721.3(GEMIN4):c.2346C>G:p.Phe782Leu	coding	Benign
17	745924	G	A	G745924A	GEMIN4	NM_015721.3(GEMIN4):c.2119C>T:p.Arg707Cys	coding	Benign
17	746376	T	C	T746376C	GEMIN4	NM_015721.3(GEMIN4):c.1667A>G:p.His556Arg	coding	Benign
17	746539	T	C	T746539C	GEMIN4	NM_015721.3(GEMIN4):c.1504A>G:p.Ile502Val	coding	Benign
17	746744	G	A	G746744A	GEMIN4	NM_015721.3(GEMIN4):c.1299C>T:p.Phe433=	coding	Benign
17	746916	A	G	A746916G	GEMIN4	NM_015721.3(GEMIN4):c.1127T>C:p.Val376Ala	coding	Benign
17	746996	G	A	G746996A	GEMIN4	NM_015721.3(GEMIN4):c.1047C>T:p.Cys349=	coding	Benign
17	747131	C	T	C747131T	GEMIN4	NM_015721.3(GEMIN4):c.912G>A:p.Ser304=	coding	Benign
17	747338	C	T	C747338T	GEMIN4	NM_015721.3(GEMIN4):c.705G>A:p.Arg235=	coding	Benign
17	747416	C	T	C747416T	GEMIN4	NM_015721.3(GEMIN4):c.627G>A:p.Ala209=	coding	Benign
17	747499	A	G	A747499G	GEMIN4	NM_015721.3(GEMIN4):c.544T>C:p.Phe182Leu	coding	Benign
17	803674	G	A	G803674A	NXN	NM_022463.5(NXN):c.1125+8C>T	noncoding	Benign
17	803693	C	T	C803693T	NXN	NM_022463.5(NXN):c.1114G>A:p.Val372Ile	coding	Benign
17	805106	G	A	G805106A	NXN	NM_022463.5(NXN):c.962C>T:p.Ala321Val	coding	Benign
17	819442	G	A	G819442A	NXN	NM_022463.5(NXN):c.817C>T:p.Gln273Ter	coding	Pathogenic
17	823701	G	A	G823701A	NXN	NM_022463.5(NXN):c.543C>T:p.Asn181=	coding	Benign
17	825954	G	A	G825954A	NXN	NM_022463.5(NXN):c.478+7C>T	noncoding	Benign
17	825992	G	A	G825992A	NXN	NM_022463.5(NXN):c.447C>T:p.Asn149=	coding	Benign
17	997187	A	G	A997187G	TIMM22	NM_013337.4(TIMM22):c.45A>G:p.Thr15=	coding	Benign
17	997239	G	C	G997239C	TIMM22	NM_013337.4(TIMM22):c.97G>C:p.Val33Leu	coding	Pathogenic
17	1007161	G	A	G1007161A	ABR	NM_001159746.3(ABR):c.2352+4C>T	noncoding	Benign
17	1125231	G	A	G1125231A	ABR	NM_001159746.3(ABR):c.60C>T:p.Gly20=	coding	Benign
17	1229260	C	T	C1229260T	ABR	NM_001322841.2(ABR):c.371G>A:p.Arg124Gln	noncoding	Benign
17	1229290	C	T	C1229290T	ABR	NM_001322841.2(ABR):c.341G>A:p.Gly114Glu	noncoding	Benign
17	1229412	C	G	C1229412G	ABR	NM_001322841.2(ABR):c.219G>C:p.Glu73Asp	noncoding	Benign
17	1229539	G	T	G1229539T	ABR	NM_001322841.2(ABR):c.92C>A:p.Ala31Glu	noncoding	Benign
17	1270774	A	G	A1270774G	BHLHA9	NM_001164405.1(BHLHA9):c.211A>G:p.Asn71Asp	coding	Pathogenic
17	1270781	G	C	G1270781C	BHLHA9	NM_001164405.1(BHLHA9):c.218G>C:p.Arg73Pro	coding	Pathogenic
17	1270787	G	T	G1270787T	BHLHA9	NM_001164405.1(BHLHA9):c.224G>T:p.Arg75Leu	coding	Pathogenic
17	1345459	G	A	G1345459A	YWHAE	NM_006761.5(YWHAE):c.756C>T:p.Asp252=	coding	Benign
17	1362031	T	A	T1362031A	YWHAE	NM_006761.5(YWHAE):c.265-23A>T	noncoding	Benign
17	1437022	A	G	A1437022G	CRK	NM_016823.4(CRK):c.375T>C:p.Ser125=	coding	Benign
17	1455914	G	C	G1455914C	CRK	NM_016823.4(CRK):c.204C>G:p.Arg68=	coding	Benign
17	1455938	G	A	G1455938A	CRK	NM_016823.4(CRK):c.180C>T:p.Tyr60=	coding	Benign
17	1467248	C	A	C1467248A	MYO1C	NM_001080779.2(MYO1C):c.3159G>T:p.Leu1053=	coding	Benign
17	1467445	C	T	C1467445T	MYO1C	NM_001080779.2(MYO1C):c.3065+35G>A	noncoding	Benign
17	1467459	C	T	C1467459T	MYO1C	NM_001080779.2(MYO1C):c.3065+21G>A	noncoding	Benign
17	1467867	A	G	A1467867G	MYO1C	NM_001080779.2(MYO1C):c.2940T>C:p.His980=	coding	Benign
17	1468099	C	T	C1468099T	MYO1C	NM_001080779.2(MYO1C):c.2785G>A:p.Asp929Asn	coding	Benign
17	1468458	G	T	G1468458T	MYO1C	NM_001080779.2(MYO1C):c.2649C>A:p.Gly883=	coding	Benign
17	1468520	A	G	A1468520G	MYO1C	NM_001080779.2(MYO1C):c.2611-24T>C	noncoding	Benign
17	1469567	T	G	T1469567G	MYO1C	NM_001080779.2(MYO1C):c.2574A>C:p.Lys858Asn	coding	Benign/Likely_benign
17	1470224	T	C	T1470224C	MYO1C	NM_001080779.2(MYO1C):c.2477A>G:p.Gln826Arg	coding	Benign
17	1470264	G	A	G1470264A	MYO1C	NM_001080779.2(MYO1C):c.2437C>T:p.Arg813Cys	coding	Benign
17	1470292	G	A	G1470292A	MYO1C	NM_001080779.2(MYO1C):c.2409C>T:p.Pro803=	coding	Benign
17	1470318	C	T	C1470318T	MYO1C	NM_001080779.2(MYO1C):c.2383G>A:p.Val795Ile	coding	Benign
17	1471209	C	T	C1471209T	MYO1C	NM_001080779.2(MYO1C):c.2135+14G>A	noncoding	Benign
17	1471924	G	A	G1471924A	MYO1C	NM_001080779.2(MYO1C):c.2004C>T:p.Tyr668=	coding	Benign/Likely_benign
17	1474649	A	G	A1474649G	MYO1C	NM_001080779.2(MYO1C):c.1758T>C:p.Phe586=	coding	Benign
17	1474753	C	G	C1474753G	MYO1C	NM_001080779.2(MYO1C):c.1716+59G>C	noncoding	Benign
17	1477602	G	C	G1477602C	MYO1C	NM_001080779.2(MYO1C):c.1483-6C>G	noncoding	Benign
17	1477882	A	C	A1477882C	MYO1C	NM_001080779.2(MYO1C):c.1482+9T>G	noncoding	Benign
17	1478406	C	T	C1478406T	MYO1C	NM_001080779.2(MYO1C):c.1295+4G>A	noncoding	Benign/Likely_benign
17	1480599	G	A	G1480599A	MYO1C	NM_001080779.2(MYO1C):c.834C>T:p.Ile278=	coding	Benign
17	1483621	C	G	C1483621G	MYO1C	NM_001080779.2(MYO1C):c.336G>C:p.Val112=	coding	Benign/Likely_benign
17	1484178	C	T	C1484178T	MYO1C	NM_001080779.2(MYO1C):c.201G>A:p.Leu67=	coding	Benign
17	1484190	G	A	G1484190A	MYO1C	NM_001080779.2(MYO1C):c.189C>T:p.Phe63=	coding	Benign/Likely_benign
17	1485679	C	T	C1485679T	MYO1C	NM_001080779.2(MYO1C):c.76-1376G>A	noncoding	Benign
17	1485778	C	T	C1485778T	MYO1C	NM_001080779.2(MYO1C):c.76-1475G>A	noncoding	Benign
17	1492503	G	A	G1492503A	MYO1C	NM_001080779.2(MYO1C):c.-16C>T	noncoding	Benign
17	1496081	C	T	C1496081T	INPP5K	NM_016532.4(INPP5K):c.1269G>A:p.Val423=	coding	Benign
17	1496135	G	A	G1496135A	INPP5K	NM_016532.4(INPP5K):c.1215C>T:p.Thr405=	coding	Benign
17	1496328	G	A	G1496328A	INPP5K	NM_016532.4(INPP5K):c.1176C>T:p.Asn392=	coding	Benign
17	1496364	G	A	G1496364A	INPP5K	NM_016532.4(INPP5K):c.1140C>T:p.Ala380=	coding	Benign
17	1497972	G	A	G1497972A	INPP5K	NM_016532.4(INPP5K):c.927C>T:p.Ser309=	coding	Benign
17	1497985	G	A	G1497985A	INPP5K	NM_016532.4(INPP5K):c.914C>T:p.Thr305Met	coding	Benign
17	1498000	T	C	T1498000C	INPP5K	NM_016532.4(INPP5K):c.899A>G:p.Tyr300Cys	coding	Pathogenic
17	1498033	G	A	G1498033A	INPP5K	NM_016532.4(INPP5K):c.866C>T:p.Pro289Leu	coding	Benign
17	1498094	C	T	C1498094T	INPP5K	NM_016532.4(INPP5K):c.805G>A:p.Asp269Asn	coding	Pathogenic
17	1507063	C	T	C1507063T	INPP5K	NM_016532.4(INPP5K):c.693G>A:p.Pro231=	coding	Benign
17	1508138	C	G	C1508138G	INPP5K	NM_016532.4(INPP5K):c.643G>C:p.Gly215Arg	coding	Benign
17	1508181	A	G	A1508181G	INPP5K	NM_016532.4(INPP5K):c.600T>C:p.Phe200=	coding	Benign
17	1509305	C	T	C1509305T	INPP5K	NM_016532.4(INPP5K):c.427G>A:p.Val143Ile	coding	Benign
17	1509314	C	T	C1509314T	INPP5K	NM_016532.4(INPP5K):c.418G>A:p.Gly140Ser	coding	Pathogenic
17	1509784	T	C	T1509784C	INPP5K	NM_016532.4(INPP5K):c.277A>G:p.Met93Val	coding	Pathogenic
17	1513507	A	G	A1513507G	INPP5K	NM_016532.4(INPP5K):c.207T>C:p.Asn69=	coding	Benign
17	1513545	A	C	A1513545C	INPP5K	NM_016532.4(INPP5K):c.169T>G:p.Ser57Ala	coding	Benign
17	1513864	A	T	A1513864T	INPP5K	NM_016532.4(INPP5K):c.152+8T>A	noncoding	Benign
17	1513875	A	G	A1513875G	INPP5K	NM_016532.4(INPP5K):c.149T>C:p.Ile50Thr	coding	Pathogenic
17	1513957	C	T	C1513957T	INPP5K	NM_016532.4(INPP5K):c.67G>A:p.Val23Met	coding	Pathogenic
17	1513973	G	A	G1513973A	INPP5K	NM_016532.4(INPP5K):c.51C>T:p.His17=	coding	Benign
17	1586942	C	T	C1586942T	SLC43A2	NM_152346.3(SLC43A2):c.1079-891G>A	noncoding	Benign
17	1634789	A	G	A1634789G	SCARF1	NM_003693.4(SCARF1):c.2462T>C:p.Val821Ala	coding	Benign
17	1645614	G	A	G1645614A	SCARF1	NM_003693.4(SCARF1):c.84C>T:p.His28=	coding	Benign
17	1650810	A	T	A1650810T	PRPF8	NM_006445.4(PRPF8):c.7000T>A:p.Tyr2334Asn	coding	Pathogenic
17	1650881	C	T	C1650881T	PRPF8	NM_006445.4(PRPF8):c.6929G>A:p.Arg2310Lys	coding	Pathogenic
17	1650882	T	C	T1650882C	PRPF8	NM_006445.4(PRPF8):c.6928A>G:p.Arg2310Gly	coding	Pathogenic
17	1650884	T	C	T1650884C	PRPF8	NM_006445.4(PRPF8):c.6926A>G:p.His2309Arg	coding	Pathogenic
17	1650884	T	G	T1650884G	PRPF8	NM_006445.4(PRPF8):c.6926A>C:p.His2309Pro	coding	Pathogenic
17	1650909	G	A	G1650909A	PRPF8	NM_006445.4(PRPF8):c.6901C>T:p.Pro2301Ser	coding	Pathogenic
17	1650960	C	T	C1650960T	PRPF8	NM_006445.4(PRPF8):c.6854-4G>A	noncoding	Benign
17	1651127	C	T	C1651127T	PRPF8	NM_006445.4(PRPF8):c.6834G>A:p.Ser2278=	coding	Benign/Likely_benign
17	1651476	A	G	A1651476G	PRPF8	NM_006445.4(PRPF8):c.6588T>C:p.His2196=	coding	Benign
17	1651776	G	A	G1651776A	PRPF8	NM_006445.4(PRPF8):c.6382C>T:p.Leu2128=	coding	Benign
17	1653558	G	A	G1653558A	PRPF8	NM_006445.4(PRPF8):c.6353C>T:p.Ser2118Phe	coding	Pathogenic
17	1653617	C	T	C1653617T	PRPF8	NM_006445.4(PRPF8):c.6294G>A:p.Lys2098=	coding	Benign
17	1653664	G	A	G1653664A	PRPF8	NM_006445.4(PRPF8):c.6247C>T:p.Leu2083=	coding	Benign
17	1653769	G	A	G1653769A	PRPF8	NM_006445.4(PRPF8):c.6227+8C>T	noncoding	Benign/Likely_benign
17	1655533	C	T	C1655533T	PRPF8	NM_006445.4(PRPF8):c.5804G>A:p.Arg1935His	coding	Pathogenic/Likely_pathogenic
17	1655534	G	A	G1655534A	PRPF8	NM_006445.4(PRPF8):c.5803C>T:p.Arg1935Cys	coding	Pathogenic
17	1658289	G	A	G1658289A	PRPF8	NM_006445.4(PRPF8):c.5469C>T:p.His1823=	coding	Benign
17	1658346	G	A	G1658346A	PRPF8	NM_006445.4(PRPF8):c.5412C>T:p.Asn1804=	coding	Benign
17	1660510	C	T	C1660510T	PRPF8	NM_006445.4(PRPF8):c.4707G>A:p.Leu1569=	coding	Benign
17	1660591	C	T	C1660591T	PRPF8	NM_006445.4(PRPF8):c.4639-13G>A	noncoding	Benign
17	1660998	A	G	A1660998G	PRPF8	NM_006445.4(PRPF8):c.4503T>C:p.Leu1501=	coding	Benign
17	1661034	G	A	G1661034A	PRPF8	NM_006445.4(PRPF8):c.4467C>T:p.Leu1489=	coding	Benign/Likely_benign
17	1661917	T	C	T1661917C	PRPF8	NM_006445.4(PRPF8):c.4011A>G:p.Gln1337=	coding	Benign
17	1661989	C	T	C1661989T	PRPF8	NM_006445.4(PRPF8):c.3939G>A:p.Pro1313=	coding	Benign
17	1662167	A	G	A1662167G	PRPF8	NM_006445.4(PRPF8):c.3775-14T>C	noncoding	Benign
17	1673075	C	T	C1673075T	PRPF8	NM_006445.4(PRPF8):c.3774+6G>A	noncoding	Benign
17	1674691	A	C	A1674691C	PRPF8	NM_006445.4(PRPF8):c.3061-11T>G	noncoding	Benign
17	1675352	A	G	A1675352G	PRPF8	NM_006445.4(PRPF8):c.2873-13T>C	noncoding	Benign
17	1675645	C	T	C1675645T	PRPF8	NM_006445.4(PRPF8):c.2847G>A:p.Pro949=	coding	Benign
17	1675976	C	T	C1675976T	PRPF8	NM_006445.4(PRPF8):c.2631G>A:p.Ala877=	coding	Benign
17	1675994	G	A	G1675994A	PRPF8	NM_006445.4(PRPF8):c.2613C>T:p.Tyr871=	coding	Benign
17	1676006	G	A	G1676006A	PRPF8	NM_006445.4(PRPF8):c.2601C>T:p.Ile867=	coding	Benign
17	1676266	G	C	G1676266C	PRPF8	NM_006445.4(PRPF8):c.2493C>G:p.Ser831=	coding	Benign
17	1676350	C	T	C1676350T	PRPF8	NM_006445.4(PRPF8):c.2409G>A:p.Ala803=	coding	Benign
17	1676595	A	G	A1676595G	PRPF8	NM_006445.4(PRPF8):c.2298T>C:p.Thr766=	coding	Benign/Likely_benign
17	1677144	T	C	T1677144C	PRPF8	NM_006445.4(PRPF8):c.2013A>G:p.Thr671=	coding	Benign
17	1677620	G	A	G1677620A	PRPF8	NM_006445.4(PRPF8):c.1929C>T:p.Gly643=	coding	Benign
17	1677635	G	C	G1677635C	PRPF8	NM_006445.4(PRPF8):c.1914C>G:p.Leu638=	coding	Benign
17	1677707	G	A	G1677707A	PRPF8	NM_006445.4(PRPF8):c.1855-13C>T	noncoding	Benign
17	1678815	G	A	G1678815A	PRPF8	NM_006445.4(PRPF8):c.1666C>T:p.Leu556=	coding	Benign
17	1679420	T	C	T1679420C	PRPF8	NM_006445.4(PRPF8):c.1290-10A>G	noncoding	Benign
17	1680838	T	C	T1680838C	PRPF8	NM_006445.4(PRPF8):c.993-7A>G	noncoding	Benign
17	1681030	A	G	A1681030G	PRPF8	NM_006445.4(PRPF8):c.891T>C:p.Asn297=	coding	Benign
17	1681836	A	G	A1681836G	PRPF8	NM_006445.4(PRPF8):c.637T>C:p.Leu213=	coding	Benign
17	1682044	A	C	A1682044C	PRPF8	NM_006445.4(PRPF8):c.435-6T>G	noncoding	Benign
17	1682111	T	G	T1682111G	PRPF8	NM_006445.4(PRPF8):c.434+18A>C	noncoding	Benign
17	1683704	G	A	G1683704A	PRPF8	NM_006445.4(PRPF8):c.101-3C>T	noncoding	Benign
17	1684847	G	A	G1684847A	PRPF8	NM_006445.4(PRPF8):c.-79C>T	noncoding	Benign
17	1725229	C	T	C1725229T	WDR81	NM_001163809.1(WDR81):c.270C>T:p.Leu90=	coding	Benign
17	1725804	G	A	G1725804A	WDR81	NM_001163809.1(WDR81):c.845G>A:p.Gly282Glu	coding	Pathogenic/Likely_pathogenic
17	1726523	C	T	C1726523T	WDR81	NM_001163809.1(WDR81):c.1564C>T:p.Gln522Ter	coding	Pathogenic
17	1726681	C	T	C1726681T	WDR81	NM_001163809.1(WDR81):c.1722C>T:p.His574=	coding	Benign
17	1726693	C	T	C1726693T	WDR81	NM_001163809.1(WDR81):c.1734C>T:p.Tyr578=	coding	Benign
17	1726836	C	T	C1726836T	WDR81	NM_001163809.1(WDR81):c.1877C>T:p.Pro626Leu	coding	Benign/Likely_benign
17	1726837	G	A	G1726837A	WDR81	NM_001163809.1(WDR81):c.1878G>A:p.Pro626=	coding	Benign
17	1727023	A	C	A1727023C	WDR81	NM_001163809.1(WDR81):c.2064A>C:p.Gly688=	coding	Benign
17	1727225	C	T	C1727225T	WDR81	NM_001163809.1(WDR81):c.2266C>T:p.Arg756Trp	coding	Benign/Likely_benign
17	1727526	C	T	C1727526T	WDR81	NM_001163809.1(WDR81):c.2567C>T:p.Pro856Leu	coding	Pathogenic/Likely_pathogenic
17	1728071	G	A	G1728071A	WDR81	NM_001163809.1(WDR81):c.3112G>A:p.Gly1038Arg	coding	Benign
17	1728245	C	T	C1728245T	WDR81	NM_001163673.1(WDR81):c.59-2135C>T	coding	Pathogenic/Likely_pathogenic
17	1728487	C	T	C1728487T	WDR81	NM_001163809.1(WDR81):c.3528C>T:p.Thr1176=	coding	Benign
17	1730811	G	A	G1730811A	WDR81	NM_001163809.1(WDR81):c.3832G>A:p.Gly1278Ser	coding	Benign
17	1731098	C	T	C1731098T	WDR81	NM_001163809.1(WDR81):c.3997C>T:p.Arg1333Ter	coding	Pathogenic
17	1731202	G	A	G1731202A	WDR81	NM_001163809.1(WDR81):c.4101G>A:p.Arg1367=	coding	Benign
17	1731226	C	T	C1731226T	WDR81	NM_001163809.1(WDR81):c.4125C>T:p.Pro1375=	coding	Benign
17	1733774	C	T	C1733774T	WDR81	NM_001163809.1(WDR81):c.4737C>T:p.Pro1579=	coding	Benign
17	1733870	C	T	C1733870T	WDR81	NM_001163809.1(WDR81):c.4833C>T:p.His1611=	coding	Benign
17	1734008	A	G	A1734008G	WDR81	NM_001163809.1(WDR81):c.4971A>G:p.Leu1657=	coding	Benign/Likely_benign
17	1734164	G	A	G1734164A	WDR81	NM_001163809.1(WDR81):c.5127G>A:p.Pro1709=	coding	Benign/Likely_benign
17	1734198	G	A	G1734198A	WDR81	NM_001163809.1(WDR81):c.5161G>A:p.Val1721Ile	coding	Benign/Likely_benign
17	1735597	G	A	G1735597A	WDR81	NM_001163809.1(WDR81):c.5205G>A:p.Pro1735=	coding	Benign
17	1735723	G	C	G1735723C	WDR81	NM_001163809.1(WDR81):c.5325+6G>C	noncoding	Benign/Likely_benign
17	1736048	C	T	C1736048T	WDR81	NM_001163809.2(WDR81):c.5335C>T:p.Arg1779Ter	coding	Pathogenic
17	1737562	G	A	G1737562A	WDR81	NM_001163809.1(WDR81):c.5703G>A:p.Ser1901=	coding	Benign
17	1737661	C	T	C1737661T	WDR81	NM_001163809.1(WDR81):c.5802C>T:p.Asn1934=	coding	Benign
17	1745000	C	T	C1745000T	SERPINF2	NM_000934.3(SERPINF2):c.5C>T:p.Ala2Val	coding	Benign
17	1745208	C	T	C1745208T	SERPINF2	NM_000934.3(SERPINF2):c.97C>T:p.Arg33Trp	coding	Benign
17	1745341	C	T	C1745341T	SERPINF2	NM_000934.3(SERPINF2):c.111C>T:p.Ser37=	coding	Benign
17	1745728	C	T	C1745728T	SERPINF2	NM_000934.3(SERPINF2):c.186C>T:p.Ala62=	coding	Benign
17	1747063	G	A	G1747063A	SERPINF2	NM_000934.3(SERPINF2):c.412G>A:p.Ala138Thr	coding	Benign
17	1752630	T	G	T1752630G	SERPINF2	NM_000934.3(SERPINF2):c.903T>G:p.Leu301=	coding	Benign
17	1754222	G	A	G1754222A	SERPINF2	NM_000934.3(SERPINF2):c.1164G>A:p.Glu388=	coding	Benign
17	1754289	G	A	G1754289A	SERPINF2	NM_000934.3(SERPINF2):c.1231G>A:p.Val411Met	coding	Pathogenic
17	1754359	G	A	G1754359A	SERPINF2	NM_000934.3(SERPINF2):c.1301G>A:p.Arg434Lys	coding	Benign
17	1762130	G	A	G1762130A	SERPINF1	NM_002615.7(SERPINF1):c.-9+17G>A	noncoding	Benign
17	1769810	G	A	G1769810A	SERPINF1	NM_002615.7(SERPINF1):c.85-42G>A	noncoding	Benign
17	1769838	C	A	C1769838A	SERPINF1	NM_002615.7(SERPINF1):c.85-14C>A	noncoding	Benign
17	1769918	G	A	G1769918A	SERPINF1	NM_002615.7(SERPINF1):c.151G>A:p.Val51Met	coding	Benign
17	1769934	C	G	C1769934G	SERPINF1	NM_002615.7(SERPINF1):c.167C>G:p.Ala56Gly	coding	Benign
17	1769982	C	T	C1769982T	SERPINF1	NM_002615.7(SERPINF1):c.215C>T:p.Thr72Met	coding	Benign
17	1770046	G	T	G1770046T	SERPINF1	NM_002615.7(SERPINF1):c.279G>T:p.Ser93=	coding	Benign/Likely_benign
17	1771040	C	T	C1771040T	SERPINF1	NM_002615.7(SERPINF1):c.295C>T:p.Arg99Ter	coding	Pathogenic
17	1771135	T	C	T1771135C	SERPINF1	NM_002615.7(SERPINF1):c.390T>C:p.Thr130=	coding	Benign
17	1771140	C	G	C1771140G	SERPINF1	NM_002615.7(SERPINF1):c.395C>G:p.Pro132Arg	coding	Benign
17	1771833	C	T	C1771833T	SERPINF1	NM_002615.7(SERPINF1):c.440-39C>T	noncoding	Benign
17	1771844	C	T	C1771844T	SERPINF1	NM_002615.7(SERPINF1):c.440-28C>T	noncoding	Benign
17	1771880	A	G	A1771880G	SERPINF1	NM_002615.7(SERPINF1):c.448A>G:p.Ile150Val	coding	Benign
17	1771934	G	T	G1771934T	SERPINF1	NM_002615.7(SERPINF1):c.502G>T:p.Val168Phe	coding	Benign
17	1771941	C	T	C1771941T	SERPINF1	NM_002615.7(SERPINF1):c.509C>T:p.Thr170Met	coding	Benign
17	1771987	G	A	G1771987A	SERPINF1	NM_002615.7(SERPINF1):c.555G>A:p.Gln185=	coding	Benign/Likely_benign
17	1772083	C	T	C1772083T	SERPINF1	NM_002615.7(SERPINF1):c.643+8C>T	noncoding	Benign/Likely_benign
17	1772084	G	A	G1772084A	SERPINF1	NM_002615.7(SERPINF1):c.643+9G>A	noncoding	Benign
17	1774962	G	C	G1774962C	SERPINF1	NM_002615.7(SERPINF1):c.644-96G>C	noncoding	Benign
17	1775044	A	T	A1775044T	SERPINF1	NM_002615.7(SERPINF1):c.644-14A>T	noncoding	Benign
17	1775065	G	A	G1775065A	SERPINF1	NM_002615.7(SERPINF1):c.651G>A:p.Trp217Ter	coding	Pathogenic
17	1775110	C	G	C1775110G	SERPINF1	NM_002615.7(SERPINF1):c.696C>G:p.Tyr232Ter	coding	Pathogenic
17	1775170	C	A	C1775170A	SERPINF1	NM_002615.7(SERPINF1):c.756C>A:p.Arg252=	coding	Benign/Likely_benign
17	1776045	T	C	T1776045C	SERPINF1	NM_002615.7(SERPINF1):c.787-487T>C	noncoding	Benign
17	1776499	A	G	A1776499G	SERPINF1	NM_002615.7(SERPINF1):c.787-33A>G	noncoding	Benign
17	1776511	A	G	A1776511G	SERPINF1	NM_002615.7(SERPINF1):c.787-21A>G	noncoding	Benign
17	1776553	G	T	G1776553T	SERPINF1	NM_002615.7(SERPINF1):c.808G>T:p.Gly270Ter	coding	Pathogenic
17	1776708	T	C	T1776708C	SERPINF1	NM_002615.7(SERPINF1):c.963T>C:p.Tyr321=	coding	Benign
17	1776714	C	T	C1776714T	SERPINF1	NM_002615.7(SERPINF1):c.969C>T:p.Gly323=	coding	Benign
17	1776824	C	T	C1776824T	SERPINF1	NM_002615.7(SERPINF1):c.997+82C>T	noncoding	Benign
17	1777321	C	T	C1777321T	SERPINF1	NM_002615.7(SERPINF1):c.1132C>T:p.Gln378Ter	coding	Pathogenic
17	1842798	C	A	C1842798A	RPA1	NM_002945.5(RPA1):c.34-5C>A	noncoding	Benign
17	1843952	G	A	G1843952A	RPA1	NM_002945.5(RPA1):c.117G>A:p.Pro39=	coding	Benign
17	1936766	C	T	C1936766T	RTN4RL1	NM_178568.4(RTN4RL1):c.1056G>A:p.Pro352=	coding	Benign
17	1936899	G	A	G1936899A	RTN4RL1	NM_178568.4(RTN4RL1):c.923C>T:p.Ala308Val	coding	Benign
17	1937168	G	A	G1937168A	RTN4RL1	NM_178568.4(RTN4RL1):c.654C>T:p.His218=	coding	Benign
17	1937383	C	T	C1937383T	RTN4RL1	NM_178568.4(RTN4RL1):c.439G>A:p.Gly147Ser	coding	Benign
17	2030171	T	A	T2030171A	DPH1	NM_001383.4(DPH1):c.17T>A:p.Met6Lys	coding	Pathogenic/Likely_pathogenic
17	2036951	C	T	C2036951T	DPH1	NM_001383.5(DPH1):c.675C>T:p.Ala225=	coding	Benign
17	2039760	T	C	T2039760C	DPH1	NM_001383.4(DPH1):c.701T>C:p.Leu234Pro	coding	Pathogenic/Likely_pathogenic
17	2039805	C	G	C2039805G	DPH1	NM_001383.5(DPH1):c.731C>G:p.Pro244Arg	coding	Benign
17	2056942	C	T	C2056942T	HIC1	NM_006497.4(HIC1):c.252C>T:p.Thr84=	coding	Benign
17	2057833	C	T	C2057833T	HIC1	NM_006497.4(HIC1):c.1143C>T:p.Ser381=	coding	Benign
17	2057920	C	T	C2057920T	HIC1	NM_006497.4(HIC1):c.1230C>T:p.Pro410=	coding	Benign
17	2058106	C	T	C2058106T	HIC1	NM_006497.4(HIC1):c.1416C>T:p.Asp472=	coding	Benign
17	2058241	A	G	A2058241G	HIC1	NM_006497.4(HIC1):c.1551A>G:p.Pro517=	coding	Benign
17	2068889	C	T	C2068889T	SMG6	NM_017575.5(SMG6):c.3724G>A:p.Glu1242Lys	coding	Benign
17	2081926	C	T	C2081926T	SMG6	NM_017575.5(SMG6):c.3565G>A:p.Glu1189Lys	coding	Benign
17	2299655	C	T	C2299655T	SMG6	NM_017575.5(SMG6):c.1098G>A:p.Val366=	coding	Benign
17	2299927	T	C	T2299927C	SMG6	NM_017575.5(SMG6):c.826A>G:p.Asn276Asp	coding	Benign
17	2300062	C	G	C2300062G	SMG6	NM_017575.5(SMG6):c.691G>C:p.Asp231His	coding	Benign
17	2330529	G	C	G2330529C	TSR1	NM_018128.5(TSR1):c.1756C>G:p.Pro586Ala	coding	Benign
17	2330575	G	A	G2330575A	TSR1	NM_018128.5(TSR1):c.1710C>T:p.Val570=	coding	Benign
17	2330586	C	T	C2330586T	TSR1	NM_018128.5(TSR1):c.1699G>A:p.Val567Ile	coding	Benign
17	2330940	T	C	T2330940C	TSR1	NM_018128.5(TSR1):c.1659+7A>G	noncoding	Benign
17	2361739	G	C	G2361739C	SGSM2	NM_014853.3(SGSM2):c.236G>C:p.Cys79Ser	coding	Benign
17	2364076	G	A	G2364076A	SGSM2	NM_014853.3(SGSM2):c.825G>A:p.Ala275=	coding	Benign
17	2371263	C	T	C2371263T	SGSM2	NM_014853.3(SGSM2):c.1425C>T:p.Asp475=	coding	Benign
17	2372407	C	T	C2372407T	SGSM2	NM_014853.3(SGSM2):c.1707C>T:p.Ser569=	coding	Benign
17	2373413	G	A	G2373413A	SGSM2	NM_014853.3(SGSM2):c.2000G>A:p.Arg667Gln	coding	Benign
17	2387111	C	T	C2387111T	MNT	NM_020310.3(MNT):c.1539G>A:p.Gln513=	coding	Benign
17	2388029	C	T	C2388029T	MNT	NM_020310.3(MNT):c.828G>A:p.Lys276=	coding	Benign
17	2638291	G	A	G2638291A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.3G>A:p.Met1Ile	coding	Pathogenic
17	2665369	C	T	C2665369T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.33-3C>T	noncoding	Pathogenic
17	2665376	C	T	C2665376T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.37C>T:p.Arg13Ter	coding	Pathogenic
17	2665395	T	G	T2665395G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.56T>G:p.Leu19Arg	coding	Pathogenic
17	2665401	C	G	C2665401G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.62C>G:p.Ser21Ter	coding	Pathogenic
17	2665411	T	G	T2665411G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.72T>G:p.Tyr24Ter	coding	Pathogenic
17	2665423	T	G	T2665423G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.84T>G:p.Tyr28Ter	coding	Pathogenic
17	2665431	T	C	T2665431C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.92T>C:p.Phe31Ser	coding	Pathogenic
17	2666002	T	C	T2666002C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.118-14T>C	noncoding	Benign/Likely_benign
17	2666061	T	A	T2666061A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.163T>A:p.Trp55Arg	coding	Pathogenic/Likely_pathogenic
17	2666090	G	C	G2666090C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192G>C:p.Lys64Asn	coding	Pathogenic
17	2666091	G	A	G2666091A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192+1G>A	coding	Pathogenic
17	2666091	G	T	G2666091T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192+1G>T	coding	Pathogenic
17	2666133	T	C	T2666133C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192+43T>C	noncoding	Benign
17	2666139	C	T	C2666139T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192+49C>T	noncoding	Benign
17	2667064	C	T	C2667064T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.265C>T:p.Arg89Ter	coding	Pathogenic
17	2667136	C	T	C2667136T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.337C>T:p.Arg113Ter	coding	Pathogenic
17	2667170	T	A	T2667170A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.371T>A:p.Val124Asp	coding	Pathogenic
17	2667185	A	T	A2667185T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.386A>T:p.Asp129Val	coding	Pathogenic
17	2667199	G	A	G2667199A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.399+1G>A	coding	Pathogenic
17	2669879	A	G	A2669879G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.400-284A>G	noncoding	Benign
17	2670168	G	A	G2670168A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.405G>A:p.Trp135Ter	coding	Pathogenic
17	2670193	C	T	C2670193T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.430C>T:p.Arg144Ter	coding	Pathogenic
17	2670209	A	G	A2670209G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.446A>G:p.His149Arg	coding	Pathogenic
17	2670223	C	T	C2670223T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.460C>T:p.Gln154Ter	coding	Pathogenic
17	2670237	C	T	C2670237T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.474C>T:p.Phe158=	coding	Benign
17	2670247	G	A	G2670247A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.484G>A:p.Gly162Ser	coding	Pathogenic
17	2670268	T	C	T2670268C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.505T>C:p.Ser169Pro	coding	Pathogenic
17	2670286	A	T	A2670286T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.523A>T:p.Lys175Ter	coding	Pathogenic
17	2670332	G	A	G2670332A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.568+1G>A	coding	Pathogenic
17	2670358	C	T	C2670358T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.568+27C>T	noncoding	Benign
17	2670564	C	T	C2670564T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.568+233C>T	noncoding	Benign
17	2672645	T	C	T2672645C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.569-10T>C	noncoding	Pathogenic/Likely_pathogenic
17	2672718	C	G	C2672718G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.632C>G:p.Ser211Ter	coding	Pathogenic
17	2672743	G	A	G2672743A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.657G>A:p.Trp219Ter	coding	Pathogenic
17	2672750	C	T	C2672750T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.664C>T:p.Gln222Ter	coding	Pathogenic
17	2672757	G	A	G2672757A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.671G>A:p.Gly224Asp	coding	Pathogenic
17	2673797	C	T	C2673797T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.672-263C>T	noncoding	Benign
17	2673883	A	T	A2673883T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.672-177A>T	noncoding	Benign
17	2674050	A	C	A2674050C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.672-10A>C	noncoding	Benign
17	2674063	C	G	C2674063G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.675C>G:p.Tyr225Ter	coding	Pathogenic
17	2674081	A	T	A2674081T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.693A>T:p.Thr231=	coding	Benign
17	2674110	G	C	G2674110C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.722G>C:p.Arg241Pro	coding	Pathogenic
17	2674118	C	T	C2674118T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.730C>T:p.Gln244Ter	coding	Pathogenic
17	2674168	A	G	A2674168G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.780A>G:p.Val260=	coding	Benign/Likely_benign
17	2674205	C	T	C2674205T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.817C>T:p.Arg273Ter	coding	Pathogenic
17	2674214	G	T	G2674214T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.826G>T:p.Glu276Ter	coding	Pathogenic
17	2674218	A	C	A2674218C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.830A>C:p.His277Pro	coding	Pathogenic
17	2674229	T	C	T2674229C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.841T>C:p.Cys281Arg	coding	Pathogenic
17	2674239	G	A	G2674239A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.851G>A:p.Trp284Ter	coding	Pathogenic
17	2674240	G	A	G2674240A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.852G>A:p.Trp284Ter	coding	Pathogenic
17	2674289	G	A	G2674289A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.900+1G>A	coding	Pathogenic
17	2676553	G	C	G2676553C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.949G>C:p.Asp317His	coding	Pathogenic
17	2676607	G	A	G2676607A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1002+1G>A	coding	Pathogenic
17	2676611	G	A	G2676611A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1002+5G>A	noncoding	Pathogenic
17	2680170	C	T	C2680170T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1009C>T:p.His337Tyr	coding	Pathogenic
17	2680220	T	C	T2680220C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1059T>C:p.Ile353=	coding	Benign
17	2680225	G	A	G2680225A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1064G>A:p.Ser355Asn	coding	Pathogenic
17	2680272	C	T	C2680272T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1111C>T:p.Arg371Ter	coding	Pathogenic
17	2680296	C	T	C2680296T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1135C>T:p.His379Tyr	coding	Pathogenic
17	2680320	G	T	G2680320T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1159G>T:p.Asp387Tyr	coding	Pathogenic
17	2680321	G	A	G2680321A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1159+1G>A	coding	Pathogenic
17	2680322	T	A	T2680322A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1159+2T>A	noncoding	Pathogenic
17	2681734	C	T	C2681734T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1165C>T:p.His389Tyr	coding	Pathogenic
17	2681765	G	C	G2681765C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1196G>C:p.Ser399Thr	coding	Pathogenic
17	2681770	G	C	G2681770C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1201G>C:p.Asp401His	coding	Pathogenic
17	2681802	A	C	A2681802C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1233A>C:p.Ter411Cys	coding	Pathogenic
17	2681805	G	T	G2681805T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.*3G>T	noncoding	Benign
17	2681819	C	T	C2681819T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.*17C>T	noncoding	Benign
17	2691601	G	A	G2691601A	CLUH	NM_001366661.1(CLUH):c.3863+8C>T	noncoding	Benign
17	2696265	G	A	G2696265A	CLUH	NM_001366661.1(CLUH):c.2291-6C>T	noncoding	Benign
17	2696892	G	A	G2696892A	CLUH	NM_001366661.1(CLUH):c.2012C>T:p.Ala671Val	coding	Benign
17	2700723	G	A	G2700723A	CLUH	NM_001366661.1(CLUH):c.1128C>T:p.Asp376=	coding	Benign
17	2701930	G	A	G2701930A	CLUH	NM_001366661.1(CLUH):c.603C>T:p.Thr201=	coding	Benign
17	2703484	G	A	G2703484A	CLUH	NM_001366661.1(CLUH):c.309C>T:p.Ser103=	coding	Benign
17	2980313	G	A	G2980313A	RAP1GAP2	NM_015085.5(RAP1GAP2):c.623G>A:p.Arg208Gln	coding	Benign
17	3008058	C	T	C3008058T	RAP1GAP2	NM_015085.5(RAP1GAP2):c.1407C>T:p.His469=	coding	Benign
17	3008154	G	C	G3008154C	RAP1GAP2	NM_015085.5(RAP1GAP2):c.1494+9G>C	noncoding	Benign
17	3197847	C	A	C3197847A	OR1A2	NM_012352.2(OR1A2):c.329C>A:p.Ala110Glu	coding	Benign
17	3197878	C	T	C3197878T	OR1A2	NM_012352.2(OR1A2):c.360C>T:p.Tyr120=	coding	Benign
17	3198248	C	T	C3198248T	OR1A2	NM_012352.2(OR1A2):c.730C>T:p.Leu244Phe	coding	Benign
17	3216221	C	T	C3216221T	OR1A1	NM_014565.2(OR1A1):c.601C>T:p.Leu201=	coding	Benign
17	3216450	C	T	C3216450T	OR1A1	NM_014565.2(OR1A1):c.830C>T:p.Thr277Met	coding	Benign
17	3292042	A	G	A3292042G	OR3A1	NM_002550.2(OR3A1):c.541T>C:p.Tyr181His	coding	Benign
17	3292059	T	C	T3292059C	OR3A1	NM_002550.2(OR3A1):c.524A>G:p.Asn175Ser	coding	Benign
17	3292309	T	A	T3292309A	OR3A1	NM_002550.2(OR3A1):c.274A>T:p.Lys92Ter	coding	Benign
17	3476230	A	G	A3476230G	ASPA	NM_001321336.1(SPATA22):c.-73-6832T>C	coding	Pathogenic
17	3476238	G	A	G3476238A	ASPA;SPATA22	NM_000049.3(ASPA):c.79G>A:p.Gly27Arg	coding	Pathogenic/Likely_pathogenic
17	3476371	G	A	G3476371A	ASPA	NM_000049.3(ASPA):c.212G>A:p.Arg71His	coding	Pathogenic/Likely_pathogenic
17	3481611	T	C	T3481611C	ASPA	NM_000049.3(ASPA):c.245T>C:p.Met82Thr	coding	Benign/Likely_benign
17	3481706	G	T	G3481706T	ASPA	NM_000049.3(ASPA):c.340G>T:p.Asp114Tyr	coding	Pathogenic/Likely_pathogenic
17	3483497	A	G	A3483497G	ASPA	NM_000049.3(ASPA):c.433-2A>G	noncoding	Pathogenic
17	3483520	T	C	T3483520C	ASPA	NM_000049.3(ASPA):c.454T>C:p.Cys152Arg	coding	Pathogenic
17	3483568	C	T	C3483568T	ASPA	NM_000049.4(ASPA):c.502C>T:p.Arg168Cys	coding	Pathogenic
17	3483569	G	A	G3483569A	ASPA	NM_000049.3(ASPA):c.503G>A:p.Arg168His	coding	Pathogenic/Likely_pathogenic
17	3489249	C	A	C3489249A	ASPA	NM_000049.3(ASPA):c.541C>A:p.Pro181Thr	coding	Pathogenic/Likely_pathogenic
17	3489258	C	T	C3489258T	ASPA	NM_000049.3(ASPA):c.550C>T:p.Gln184Ter	coding	Pathogenic
17	3489343	G	T	G3489343T	ASPA	NM_000049.4(ASPA):c.634+1G>T	coding	Pathogenic/Likely_pathogenic
17	3494369	C	A	C3494369A	ASPA	NM_000049.3(ASPA):c.654C>A:p.Cys218Ter	coding	Pathogenic
17	3494407	A	G	A3494407G	ASPA	NM_000049.3(ASPA):c.692A>G:p.Tyr231Cys	coding	Pathogenic
17	3494408	C	A	C3494408A	ASPA	NM_000049.4(ASPA):c.693C>A:p.Tyr231Ter	coding	Pathogenic
17	3494408	C	T	C3494408T	ASPA	NM_000049.3(ASPA):c.693C>T:p.Tyr231=	coding	Benign/Likely_benign
17	3494418	G	A	G3494418A	ASPA	NM_000049.4(ASPA):c.703G>A:p.Glu235Lys	coding	Benign
17	3494460	G	A	G3494460A	ASPA	NM_000049.4(ASPA):c.744+1G>A	coding	Pathogenic
17	3498892	A	T	A3498892T	ASPA	NM_000049.3(ASPA):c.746A>T:p.Asp249Val	coding	Pathogenic/Likely_pathogenic
17	3498966	G	A	G3498966A	ASPA	NM_000049.3(ASPA):c.820G>A:p.Gly274Arg	coding	Pathogenic/Likely_pathogenic
17	3498977	C	T	C3498977T	ASPA	NM_000049.3(ASPA):c.831C>T:p.Thr277=	coding	Benign
17	3499000	A	C	A3499000C	ASPA	NM_000049.4(ASPA):c.854A>C:p.Glu285Ala	coding	Pathogenic
17	3499005	G	A	G3499005A	ASPA	NM_000049.3(ASPA):c.859G>A:p.Ala287Thr	coding	Pathogenic/Likely_pathogenic
17	3499060	C	A	C3499060A	ASPA	NM_000049.4(ASPA):c.914C>A:p.Ala305Glu	coding	Pathogenic
17	3510610	C	T	C3510610T	TRPV3	NM_145068.4(TRPV3):c.*3307G>A	noncoding	Benign
17	3510659	C	T	C3510659T	TRPV3	NM_145068.4(TRPV3):c.*3258G>A	noncoding	Benign
17	3510662	C	T	C3510662T	TRPV3	NM_145068.4(TRPV3):c.*3255G>A	noncoding	Benign
17	3510721	A	G	A3510721G	TRPV3	NM_145068.4(TRPV3):c.*3196T>C	noncoding	Benign
17	3510762	C	T	C3510762T	TRPV3	NM_145068.4(TRPV3):c.*3155G>A	noncoding	Benign
17	3510763	G	A	G3510763A	TRPV3	NM_145068.4(TRPV3):c.*3154C>T	noncoding	Benign
17	3510768	A	G	A3510768G	TRPV3	NM_145068.4(TRPV3):c.*3149T>C	noncoding	Benign
17	3510841	T	G	T3510841G	TRPV3	NM_145068.4(TRPV3):c.*3076A>C	noncoding	Benign
17	3510866	T	C	T3510866C	TRPV3	NM_145068.4(TRPV3):c.*3051A>G	noncoding	Benign
17	3511134	C	T	C3511134T	TRPV3	NM_145068.4(TRPV3):c.*2783G>A	noncoding	Benign
17	3511157	T	G	T3511157G	TRPV3	NM_145068.4(TRPV3):c.*2760A>C	noncoding	Benign
17	3511188	T	C	T3511188C	TRPV3	NM_145068.4(TRPV3):c.*2729A>G	noncoding	Benign
17	3511306	C	T	C3511306T	TRPV3	NM_145068.4(TRPV3):c.*2611G>A	noncoding	Benign
17	3511307	G	A	G3511307A	TRPV3	NM_145068.4(TRPV3):c.*2610C>T	noncoding	Benign
17	3511313	C	T	C3511313T	TRPV3	NM_145068.4(TRPV3):c.*2604G>A	noncoding	Benign
17	3511432	C	T	C3511432T	TRPV3	NM_145068.4(TRPV3):c.*2485G>A	noncoding	Benign
17	3511440	A	C	A3511440C	TRPV3	NM_145068.4(TRPV3):c.*2477T>G	noncoding	Benign
17	3511480	T	C	T3511480C	TRPV3	NM_145068.4(TRPV3):c.*2437A>G	noncoding	Benign
17	3511565	C	T	C3511565T	TRPV3	NM_145068.4(TRPV3):c.*2352G>A	noncoding	Benign
17	3511645	A	G	A3511645G	TRPV3	NM_145068.4(TRPV3):c.*2272T>C	noncoding	Benign
17	3511748	G	T	G3511748T	TRPV3	NM_145068.4(TRPV3):c.*2169C>A	noncoding	Benign
17	3511764	T	C	T3511764C	TRPV3	NM_145068.4(TRPV3):c.*2153A>G	noncoding	Benign
17	3511802	C	T	C3511802T	TRPV3	NM_145068.4(TRPV3):c.*2115G>A	noncoding	Benign
17	3511823	C	T	C3511823T	TRPV3	NM_145068.4(TRPV3):c.*2094G>A	noncoding	Benign
17	3511824	G	A	G3511824A	TRPV3	NM_145068.4(TRPV3):c.*2093C>T	noncoding	Benign
17	3511830	A	C	A3511830C	TRPV3	NM_145068.4(TRPV3):c.*2087T>G	noncoding	Benign
17	3511845	T	G	T3511845G	TRPV3	NM_145068.4(TRPV3):c.*2072A>C	noncoding	Benign
17	3511849	T	C	T3511849C	TRPV3	NM_145068.4(TRPV3):c.*2068A>G	noncoding	Benign
17	3511863	T	A	T3511863A	TRPV3	NM_145068.4(TRPV3):c.*2054A>T	noncoding	Benign
17	3511903	T	A	T3511903A	TRPV3	NM_145068.4(TRPV3):c.*2014A>T	noncoding	Benign
17	3511967	G	A	G3511967A	TRPV3	NM_145068.4(TRPV3):c.*1950C>T	noncoding	Benign
17	3512076	G	T	G3512076T	TRPV3	NM_145068.4(TRPV3):c.*1841C>A	noncoding	Benign
17	3512127	C	G	C3512127G	TRPV3	NM_145068.4(TRPV3):c.*1790G>C	noncoding	Benign
17	3512327	A	G	A3512327G	TRPV3	NM_145068.4(TRPV3):c.*1590T>C	noncoding	Benign
17	3512352	A	G	A3512352G	TRPV3	NM_145068.4(TRPV3):c.*1565T>C	noncoding	Benign
17	3512384	T	G	T3512384G	TRPV3	NM_145068.4(TRPV3):c.*1533A>C	noncoding	Benign
17	3512432	C	T	C3512432T	TRPV3	NM_145068.4(TRPV3):c.*1485G>A	noncoding	Benign
17	3512493	C	T	C3512493T	TRPV3	NM_145068.4(TRPV3):c.*1424G>A	noncoding	Benign
17	3512688	C	G	C3512688G	TRPV3	NM_145068.4(TRPV3):c.*1229G>C	noncoding	Benign
17	3512834	T	G	T3512834G	TRPV3	NM_145068.4(TRPV3):c.*1083A>C	noncoding	Benign
17	3512878	A	G	A3512878G	TRPV3	NM_145068.4(TRPV3):c.*1039T>C	noncoding	Benign
17	3512968	A	T	A3512968T	TRPV3	NM_145068.4(TRPV3):c.*949T>A	noncoding	Benign
17	3512977	C	T	C3512977T	TRPV3	NM_145068.4(TRPV3):c.*940G>A	noncoding	Benign
17	3513015	A	C	A3513015C	TRPV3	NM_145068.4(TRPV3):c.*902T>G	noncoding	Benign
17	3513261	C	A	C3513261A	TRPV3	NM_145068.4(TRPV3):c.*656G>T	noncoding	Benign
17	3513341	T	A	T3513341A	TRPV3	NM_145068.4(TRPV3):c.*576A>T	noncoding	Benign
17	3513638	C	G	C3513638G	TRPV3	NM_145068.4(TRPV3):c.*279G>C	noncoding	Benign
17	3513731	C	T	C3513731T	TRPV3	NM_145068.4(TRPV3):c.*186G>A	noncoding	Benign
17	3513829	C	T	C3513829T	TRPV3	NM_145068.4(TRPV3):c.*88G>A	noncoding	Benign
17	3513833	C	T	C3513833T	TRPV3	NM_145068.4(TRPV3):c.*84G>A	noncoding	Benign
17	3513854	G	C	G3513854C	TRPV3	NM_145068.4(TRPV3):c.*63C>G	noncoding	Benign
17	3513859	G	A	G3513859A	TRPV3	NM_145068.4(TRPV3):c.*58C>T	noncoding	Benign
17	3513932	C	A	C3513932A	TRPV3	NM_145068.4(TRPV3):c.2358G>T:p.Pro786=	coding	Benign
17	3513959	A	G	A3513959G	TRPV3	NM_145068.4(TRPV3):c.2331T>C:p.Asn777=	coding	Benign
17	3513969	G	A	G3513969A	TRPV3	NM_145068.4(TRPV3):c.2321C>T:p.Thr774Ile	coding	Benign
17	3514026	A	T	A3514026T	TRPV3	NM_145068.4(TRPV3):c.2279-15T>A	noncoding	Benign
17	3514583	G	A	G3514583A	TRPV3	NM_145068.4(TRPV3):c.2278+10C>T	noncoding	Benign
17	3514584	C	T	C3514584T	TRPV3	NM_145068.4(TRPV3):c.2278+9G>A	noncoding	Benign
17	3514636	G	A	G3514636A	TRPV3	NM_145068.4(TRPV3):c.2235C>T:p.His745=	coding	Benign
17	3516470	G	A	G3516470A	TRPV3	NM_145068.4(TRPV3):c.2185C>T:p.Arg729Ter	coding	Benign
17	3518583	C	T	C3518583T	TRPV3	NM_145068.4(TRPV3):c.2078G>A:p.Arg693His	coding	Benign
17	3518587	A	C	A3518587C	TRPV3	NM_145068.4(TRPV3):c.2074T>G:p.Trp692Gly	coding	Pathogenic
17	3518627	G	A	G3518627A	TRPV3	NM_145068.4(TRPV3):c.2034C>T:p.Gly678=	coding	Benign
17	3518738	G	A	G3518738A	TRPV3	NM_145068.4(TRPV3):c.1923C>T:p.Asp641=	coding	Benign
17	3518779	C	T	C3518779T	TRPV3	NM_145068.4(TRPV3):c.1882G>A:p.Ala628Thr	coding	Benign
17	3518783	G	A	G3518783A	TRPV3	NM_145068.4(TRPV3):c.1878C>T:p.Ser626=	coding	Benign
17	3524202	T	G	T3524202G	TRPV3	NM_145068.4(TRPV3):c.1739A>C:p.Gln580Pro	coding	Pathogenic
17	3524223	C	A	C3524223A	TRPV3	NM_145068.4(TRPV3):c.1718G>T:p.Gly573Val	coding	Pathogenic
17	3524224	C	A	C3524224A	TRPV3	NM_145068.4(TRPV3):c.1717G>T:p.Gly573Cys	coding	Pathogenic
17	3524224	C	T	C3524224T	TRPV3	NM_145068.4(TRPV3):c.1717G>A:p.Gly573Ser	coding	Pathogenic
17	3524238	C	A	C3524238A	TRPV3	NM_145068.4(TRPV3):c.1703G>T:p.Gly568Val	coding	Pathogenic
17	3524238	C	T	C3524238T	TRPV3	NM_145068.4(TRPV3):c.1703G>A:p.Gly568Asp	coding	Pathogenic
17	3524243	C	T	C3524243T	TRPV3	NM_145068.4(TRPV3):c.1698G>A:p.Thr566=	coding	Benign
17	3524287	C	T	C3524287T	TRPV3	NM_145068.4(TRPV3):c.1654G>A:p.Val552Met	coding	Benign
17	3524319	A	G	A3524319G	TRPV3	NM_145068.4(TRPV3):c.1622T>C:p.Leu541Ser	coding	Benign
17	3526942	G	A	G3526942A	TRPV3	NM_145068.4(TRPV3):c.1504-15C>T	noncoding	Benign
17	3528010	G	A	G3528010A	TRPV3	NM_145068.4(TRPV3):c.1503+15C>T	noncoding	Benign
17	3528012	G	C	G3528012C	TRPV3	NM_145068.4(TRPV3):c.1503+13C>G	noncoding	Benign
17	3528093	T	A	T3528093A	TRPV3	NM_145068.4(TRPV3):c.1435A>T:p.Met479Leu	coding	Benign
17	3528101	G	A	G3528101A	TRPV3	NM_145068.4(TRPV3):c.1427C>T:p.Thr476Met	coding	Benign
17	3528109	C	G	C3528109G	TRPV3	NM_145068.4(TRPV3):c.1419G>C:p.Leu473Phe	coding	Benign
17	3528833	G	A	G3528833A	TRPV3	NM_145068.4(TRPV3):c.1401+4C>T	noncoding	Benign
17	3528957	C	A	C3528957A	TRPV3	NM_145068.4(TRPV3):c.1281G>T:p.Thr427=	coding	Benign
17	3528980	G	A	G3528980A	TRPV3	NM_145068.4(TRPV3):c.1258C>T:p.Leu420=	coding	Benign
17	3530027	G	A	G3530027A	TRPV3	NM_145068.4(TRPV3):c.1242C>T:p.Asp414=	coding	Benign
17	3530033	G	A	G3530033A	TRPV3	NM_145068.4(TRPV3):c.1236C>T:p.Asn412=	coding	Benign
17	3530164	G	A	G3530164A	TRPV3	NM_145068.4(TRPV3):c.1105C>T:p.Arg369Trp	coding	Benign/Likely_benign
17	3530186	G	A	G3530186A	TRPV3	NM_145068.4(TRPV3):c.1083C>T:p.Leu361=	coding	Benign
17	3530191	T	G	T3530191G	TRPV3	NM_145068.4(TRPV3):c.1078A>C:p.Ile360Leu	coding	Benign
17	3532672	C	T	C3532672T	TRPV3	NM_145068.4(TRPV3):c.1050G>A:p.Lys350=	coding	Benign
17	3532677	C	T	C3532677T	TRPV3	NM_145068.4(TRPV3):c.1045G>A:p.Ala349Thr	coding	Benign
17	3532678	G	A	G3532678A	TRPV3	NM_145068.4(TRPV3):c.1044C>T:p.Ala348=	coding	Benign
17	3532764	T	C	T3532764C	TRPV3	NM_145068.4(TRPV3):c.958A>G:p.Met320Val	coding	Benign/Likely_benign
17	3532766	C	T	C3532766T	TRPV3	NM_145068.4(TRPV3):c.956G>A:p.Arg319His	coding	Benign
17	3532767	G	A	G3532767A	TRPV3	NM_145068.4(TRPV3):c.955C>T:p.Arg319Cys	coding	Benign/Likely_benign
17	3532786	C	T	C3532786T	TRPV3	NM_145068.4(TRPV3):c.936G>A:p.Thr312=	coding	Benign
17	3532870	G	A	G3532870A	TRPV3	NM_145068.4(TRPV3):c.852C>T:p.His284=	coding	Benign/Likely_benign
17	3532915	T	C	T3532915C	TRPV3	NM_145068.4(TRPV3):c.807A>G:p.Ala269=	coding	Benign
17	3535562	G	A	G3535562A	TRPV3	NM_145068.4(TRPV3):c.784+11C>T	noncoding	Benign
17	3542520	A	G	A3542520G	TRPV3	NM_145068.4(TRPV3):c.643+2T>C	noncoding	Benign
17	3542573	C	T	C3542573T	TRPV3	NM_145068.4(TRPV3):c.592G>A:p.Asp198Asn	coding	Benign
17	3542607	T	G	T3542607G	TRPV3	NM_145068.4(TRPV3):c.558A>C:p.Ile186=	coding	Benign
17	3542676	C	T	C3542676T	TRPV3	NM_145068.4(TRPV3):c.489G>A:p.Thr163=	coding	Benign
17	3543525	G	A	G3543525A	TRPV3	NM_145068.4(TRPV3):c.415C>T:p.Leu139=	coding	Benign/Likely_benign
17	3543545	A	G	A3543545G	TRPV3	NM_145068.4(TRPV3):c.395T>C:p.Val132Ala	coding	Benign
17	3543546	C	T	C3543546T	TRPV3	NM_145068.4(TRPV3):c.394G>A:p.Val132Met	coding	Benign
17	3543591	T	C	T3543591C	TRPV3	NM_145068.4(TRPV3):c.349A>G:p.Arg117Gly	coding	Benign
17	3544620	C	T	C3544620T	TRPV3	NM_145068.4(TRPV3):c.270G>A:p.Gln90=	coding	Benign
17	3545159	G	A	G3545159A	TRPV3	NM_145068.4(TRPV3):c.224+8C>T	noncoding	Benign
17	3554722	C	T	C3554722T	TRPV3	NM_145068.4(TRPV3):c.119+10G>A	noncoding	Benign
17	3554756	G	C	G3554756C	TRPV3	NM_145068.4(TRPV3):c.95C>G:p.Ala32Gly	coding	Benign
17	3554778	T	C	T3554778C	TRPV3	NM_145068.4(TRPV3):c.73A>G:p.Ile25Val	coding	Benign
17	3554779	G	A	G3554779A	TRPV3	NM_145068.4(TRPV3):c.72C>T:p.Ala24=	coding	Benign
17	3554860	A	G	A3554860G	TRPV3	NM_145068.4(TRPV3):c.-2-8T>C	noncoding	Benign
17	3557815	C	G	C3557815G	TRPV3	NM_145068.3(TRPV3):c.-142G>C	noncoding	Benign
17	3557863	C	T	C3557863T	TRPV3	NM_145068.3(TRPV3):c.-190G>A	noncoding	Benign
17	3557899	C	G	C3557899G	TRPV3	NM_145068.3(TRPV3):c.-226G>C	noncoding	Benign
17	3557907	G	A	G3557907A	TRPV3	NM_145068.3(TRPV3):c.-234C>T	noncoding	Benign
17	3557942	T	C	T3557942C	TRPV3	NM_145068.3(TRPV3):c.-269A>G	noncoding	Benign
17	3573879	A	C	A3573879C	TRPV1	NM_080704.4(TRPV1):c.1857T>G:p.Pro619=	coding	Benign
17	3573900	C	T	C3573900T	TRPV1	NM_080704.4(TRPV1):c.1836G>A:p.Thr612=	coding	Benign
17	3580491	T	C	T3580491C	TRPV1	NM_080704.4(TRPV1):c.1513A>G:p.Thr505Ala	coding	Benign
17	3590342	T	C	T3590342C	TRPV1	NM_080704.4(TRPV1):c.655A>G:p.Thr219Ala	coding	Benign
17	3592058	C	T	C3592058T	TRPV1	NM_080704.4(TRPV1):c.284+9G>A	noncoding	Benign
17	3592171	C	T	C3592171T	TRPV1	NM_080704.4(TRPV1):c.180G>A:p.Pro60=	coding	Benign
17	3601032	A	G	A3601032G	CTNS;TRPV1	NM_080704.4(TRPV1):c.-34+7395T>C	noncoding	Benign
17	3615406	C	T	C3615406T	SHPK	NM_013276.4(SHPK):c.955G>A:p.Ala319Thr	coding	Benign
17	3621266	T	C	T3621266C	SHPK	NM_013276.4(SHPK):c.794A>G:p.Tyr265Cys	coding	Benign
17	3621366	C	T	C3621366T	SHPK	NM_013276.4(SHPK):c.694G>A:p.Glu232Lys	coding	Benign
17	3624113	C	T	C3624113T	SHPK	NM_013276.4(SHPK):c.429G>A:p.Pro143=	coding	Benign
17	3630242	G	T	G3630242T	SHPK	NM_013276.4(SHPK):c.273C>A:p.Gly91=	coding	Benign
17	3630305	G	A	G3630305A	SHPK	NM_013276.4(SHPK):c.210C>T:p.His70=	coding	Benign
17	3636427	C	T	C3636427T	CTNS	NM_001031681.2(CTNS):c.-511C>T	noncoding	Benign
17	3636541	T	C	T3636541C	CTNS	NM_001031681.3(CTNS):c.-397T>C	noncoding	Benign
17	3636603	C	T	C3636603T	CTNS	NM_001031681.3(CTNS):c.-335C>T	noncoding	Benign
17	3636748	G	A	G3636748A	CTNS	NM_001031681.3(CTNS):c.-230+40G>A	noncoding	Benign
17	3636842	A	G	A3636842G	CTNS	NM_004937.3(CTNS):c.-230+11A>G	noncoding	Benign
17	3640272	G	A	G3640272A	CTNS	NM_004937.3(CTNS):c.61+5G>A	noncoding	Pathogenic
17	3647443	G	T	G3647443T	CTNS	NM_004937.3(CTNS):c.62-1G>T	noncoding	Pathogenic
17	3647490	C	T	C3647490T	CTNS	NM_004937.3(CTNS):c.108C>T:p.Asn36=	coding	Benign/Likely_benign
17	3647506	G	A	G3647506A	CTNS	NM_004937.3(CTNS):c.124G>A:p.Val42Ile	coding	Benign/Likely_benign
17	3647523	G	T	G3647523T	CTNS	NM_004937.3(CTNS):c.140+1G>T	coding	Pathogenic
17	3647524	T	C	T3647524C	CTNS	NM_004937.3(CTNS):c.140+2T>C	noncoding	Pathogenic
17	3655055	G	T	G3655055T	CTNS	NM_004937.3(CTNS):c.283G>T:p.Gly95Ter	coding	Pathogenic
17	3655099	C	T	C3655099T	CTNS	NM_004937.3(CTNS):c.327C>T:p.Thr109=	coding	Benign
17	3655101	G	T	G3655101T	CTNS	NM_004937.3(CTNS):c.329G>T:p.Gly110Val	coding	Pathogenic
17	3655123	C	G	C3655123G	CTNS	NM_004937.3(CTNS):c.329+22C>G	noncoding	Benign
17	3655247	G	A	G3655247A	CTNS	NM_004937.3(CTNS):c.356G>A:p.Arg119His	coding	Benign
17	3655255	G	A	G3655255A	CTNS	NM_004937.3(CTNS):c.364G>A:p.Ala122Thr	coding	Benign
17	3655273	C	T	C3655273T	CTNS	NM_004937.3(CTNS):c.382C>T:p.Gln128Ter	coding	Pathogenic/Likely_pathogenic
17	3655288	A	T	A3655288T	CTNS	NM_004937.3(CTNS):c.397A>T:p.Ile133Phe	coding	Pathogenic
17	3655305	G	A	G3655305A	CTNS	NM_004937.3(CTNS):c.414G>A:p.Trp138Ter	coding	Pathogenic
17	3655313	C	T	C3655313T	CTNS	NM_004937.3(CTNS):c.422C>T:p.Ser141Phe	coding	Pathogenic/Likely_pathogenic
17	3655320	C	A	C3655320A	CTNS	NM_004937.3(CTNS):c.429C>A:p.Tyr143Ter	coding	Pathogenic
17	3655324	C	T	C3655324T	CTNS	NM_004937.3(CTNS):c.433C>T:p.Gln145Ter	coding	Pathogenic
17	3655368	G	A	G3655368A	CTNS	NM_004937.3(CTNS):c.461+16G>A	noncoding	Benign
17	3655404	G	A	G3655404A	CTNS	NM_004937.3(CTNS):c.461+52G>A	noncoding	Benign
17	3655406	G	A	G3655406A	CTNS	NM_004937.3(CTNS):c.461+54G>A	noncoding	Benign
17	3656480	C	A	C3656480A	CTNS	NM_004937.3(CTNS):c.462-7C>A	noncoding	Benign/Likely_benign
17	3656487	T	C	T3656487C	CTNS	NM_004937.3(CTNS):c.462T>C:p.Ser154=	coding	Benign
17	3656529	G	A	G3656529A	CTNS	NM_004937.3(CTNS):c.504G>A:p.Thr168=	coding	Benign
17	3656531	G	A	G3656531A	CTNS	NM_004937.3(CTNS):c.506G>A:p.Gly169Asp	coding	Pathogenic
17	3656541	C	T	C3656541T	CTNS	NM_004937.3(CTNS):c.516C>T:p.Ala172=	coding	Benign
17	3656559	C	T	C3656559T	CTNS	NM_004937.3(CTNS):c.534C>T:p.Ile178=	coding	Benign
17	3656569	T	C	T3656569C	CTNS	NM_004937.3(CTNS):c.544T>C:p.Trp182Arg	coding	Pathogenic
17	3656703	G	A	G3656703A	CTNS	NM_004937.3(CTNS):c.589G>A:p.Gly197Arg	coding	Pathogenic/Likely_pathogenic
17	3656727	G	A	G3656727A	CTNS	NM_004937.3(CTNS):c.613G>A:p.Asp205Asn	coding	Pathogenic
17	3656795	G	A	G3656795A	CTNS	NM_004937.3(CTNS):c.681G>A:p.Glu227=	coding	Pathogenic
17	3656796	G	A	G3656796A	CTNS	NM_004937.3(CTNS):c.681+1G>A	coding	Pathogenic
17	3657069	G	A	G3657069A	CTNS	NM_004937.3(CTNS):c.681+274G>A	noncoding	Benign
17	3658004	G	T	G3658004T	CTNS	NM_004937.3(CTNS):c.682-1G>T	noncoding	Pathogenic
17	3658102	C	T	C3658102T	CTNS	NM_004937.3(CTNS):c.779C>T:p.Thr260Ile	coding	Benign
17	3658113	C	T	C3658113T	CTNS	NM_004937.3(CTNS):c.790C>T:p.Gln264Ter	coding	Pathogenic
17	3658145	C	T	C3658145T	CTNS	NM_004937.3(CTNS):c.822C>T:p.Leu274=	coding	Benign
17	3658157	G	A	G3658157A	CTNS	NM_004937.3(CTNS):c.834G>A:p.Leu278=	coding	Benign
17	3659830	C	T	C3659830T	CTNS	NM_004937.3(CTNS):c.853-28C>T	noncoding	Benign
17	3659855	C	G	C3659855G	CTNS	NM_004937.3(CTNS):c.853-3C>G	noncoding	Pathogenic
17	3659856	A	G	A3659856G	CTNS	NM_004937.3(CTNS):c.853-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	3659875	C	G	C3659875G	CTNS	NM_004937.3(CTNS):c.870C>G:p.Tyr290Ter	coding	Pathogenic
17	3659895	G	A	G3659895A	CTNS	NM_004937.3(CTNS):c.890G>A:p.Trp297Ter	coding	Pathogenic
17	3659927	G	A	G3659927A	CTNS	NM_004937.3(CTNS):c.922G>A:p.Gly308Arg	coding	Pathogenic
17	3659974	C	G	C3659974G	CTNS	NM_004937.3(CTNS):c.969C>G:p.Asn323Lys	coding	Pathogenic
17	3659990	G	A	G3659990A	CTNS	NM_004937.3(CTNS):c.970+15G>A	noncoding	Benign
17	3660224	G	A	G3660224A	CTNS	NM_004937.3(CTNS):c.971-12G>A	noncoding	Pathogenic
17	3660280	G	A	G3660280A	CTNS	NM_004937.3(CTNS):c.1015G>A:p.Gly339Arg	coding	Pathogenic
17	3660669	C	G	C3660669G	CTNS	NM_004937.3(CTNS):c.*300C>G	coding	Benign
17	3660774	G	A	G3660774A	CTNS	NM_004937.3(CTNS):c.*405G>A	noncoding	Benign
17	3660779	A	G	A3660779G	CTNS	NM_004937.3(CTNS):c.*410A>G	noncoding	Benign
17	3660790	T	C	T3660790C	CTNS	NM_004937.3(CTNS):c.*421T>C	noncoding	Benign
17	3660896	G	A	G3660896A	CTNS	NM_004937.3(CTNS):c.*527G>A	noncoding	Benign
17	3660924	T	C	T3660924C	CTNS	NM_004937.3(CTNS):c.*555T>C	noncoding	Benign
17	3660941	A	G	A3660941G	CTNS	NM_004937.3(CTNS):c.*572A>G	noncoding	Benign
17	3660996	T	C	T3660996C	CTNS	NM_004937.3(CTNS):c.*627T>C	noncoding	Benign
17	3661000	T	C	T3661000C	CTNS	NM_004937.3(CTNS):c.*631T>C	noncoding	Benign
17	3661084	C	T	C3661084T	CTNS	NM_004937.3(CTNS):c.*715C>T	noncoding	Benign
17	3661106	T	A	T3661106A	CTNS	NM_004937.3(CTNS):c.*737T>A	noncoding	Benign
17	3661107	T	G	T3661107G	CTNS	NM_004937.3(CTNS):c.*738T>G	noncoding	Benign
17	3661220	G	A	G3661220A	CTNS	NM_004937.3(CTNS):c.*851G>A	noncoding	Benign
17	3661393	C	T	C3661393T	CTNS	NM_004937.3(CTNS):c.*1024C>T	noncoding	Benign
17	3661394	A	G	A3661394G	CTNS	NM_004937.3(CTNS):c.*1025A>G	noncoding	Benign
17	3661485	C	T	C3661485T	CTNS	NM_004937.3(CTNS):c.*1116C>T	noncoding	Benign
17	3661486	G	A	G3661486A	CTNS	NM_004937.3(CTNS):c.*1117G>A	noncoding	Benign
17	3661497	G	A	G3661497A	CTNS	NM_004937.3(CTNS):c.*1128G>A	noncoding	Benign
17	3661521	A	G	A3661521G	CTNS	NM_004937.3(CTNS):c.*1152A>G	noncoding	Benign
17	3661534	C	T	C3661534T	CTNS	NM_004937.3(CTNS):c.*1165C>T	noncoding	Benign
17	3661575	T	C	T3661575C	CTNS	NM_004937.3(CTNS):c.*1206T>C	noncoding	Benign
17	3661809	A	G	A3661809G	CTNS	NM_004937.3(CTNS):c.*1440A>G	noncoding	Benign
17	3661947	C	G	C3661947G	CTNS	NM_004937.3(CTNS):c.*1578C>G	noncoding	Benign
17	3661964	C	T	C3661964T	CTNS	NM_004937.3(CTNS):c.*1595C>T	noncoding	Benign
17	3662002	C	G	C3662002G	CTNS	NM_004937.3(CTNS):c.*1633C>G	noncoding	Benign
17	3662034	A	G	A3662034G	CTNS	NM_004937.3(CTNS):c.*1665A>G	noncoding	Benign
17	3662235	C	T	C3662235T	CTNS	NM_004937.3(CTNS):c.*1866C>T	noncoding	Benign
17	3662484	G	A	G3662484A	CTNS	NM_004937.3(CTNS):c.*2115G>A	noncoding	Benign
17	3662496	G	A	G3662496A	CTNS	NM_004937.3(CTNS):c.*2127G>A	noncoding	Benign
17	3662675	T	C	T3662675C	CTNS	NM_004937.3(CTNS):c.*2306T>C	noncoding	Benign
17	3662915	G	C	G3662915C	CTNS	NM_004937.3(CTNS):c.*2546G>C	noncoding	Benign
17	3662919	G	A	G3662919A	CTNS	NM_004937.3(CTNS):c.*2550G>A	noncoding	Benign
17	3662938	C	T	C3662938T	CTNS	NM_004937.3(CTNS):c.*2569C>T	noncoding	Benign
17	3897828	T	C	T3897828C	P2RX1	NM_002558.4(P2RX1):c.1186A>G:p.Met396Val	coding	Benign
17	3897888	G	A	G3897888A	P2RX1	NM_002558.4(P2RX1):c.1135-9C>T	noncoding	Benign
17	3898033	G	A	G3898033A	P2RX1	NM_002558.4(P2RX1):c.1110C>T:p.Tyr370=	coding	Benign
17	3927972	G	A	G3927972A	ATP2A3	NM_005173.4(ATP2A3):c.2980+691C>T	noncoding	Benign
17	3930414	G	T	G3930414T	ATP2A3	NM_005173.4(ATP2A3):c.2631C>A:p.Ser877=	coding	Benign
17	3937589	G	A	G3937589A	ATP2A3	NM_005173.4(ATP2A3):c.2148C>T:p.Ile716=	coding	Benign
17	3941520	G	A	G3941520A	ATP2A3	NM_005173.4(ATP2A3):c.1680C>T:p.Arg560=	coding	Benign
17	3942637	G	A	G3942637A	ATP2A3	NM_005173.4(ATP2A3):c.1514C>T:p.Pro505Leu	coding	Benign
17	3942680	G	T	G3942680T	ATP2A3	NM_005173.4(ATP2A3):c.1471C>A:p.Arg491=	coding	Benign
17	3947490	G	A	G3947490A	ATP2A3	NM_005173.4(ATP2A3):c.996C>T:p.Ile332=	coding	Benign
17	3953703	C	A	C3953703A	ATP2A3	NM_005173.4(ATP2A3):c.126G>T:p.Pro42=	coding	Benign
17	4173374	G	A	G4173374A	ANKFY1	NM_001330063.2(ANKFY1):c.2994C>T:p.Asp998=	coding	Benign
17	4533059	C	T	C4533059T	SPNS2	NM_001124758.3(SPNS2):c.1018C>T:p.Leu340=	coding	Benign
17	4536388	G	C	G4536388C	SPNS2	NM_001124758.3(SPNS2):c.1569G>C:p.Ala523=	coding	Benign
17	4536410	G	A	G4536410A	SPNS2	NM_001124758.3(SPNS2):c.1591G>A:p.Ala531Thr	coding	Benign
17	4539506	T	C	T4539506C	MYBBP1A	NM_014520.4(MYBBP1A):c.3896A>G:p.Lys1299Arg	coding	Benign
17	4539636	G	A	G4539636A	MYBBP1A	NM_014520.4(MYBBP1A):c.3766C>T:p.Gln1256Ter	coding	Benign
17	4539910	G	A	G4539910A	MYBBP1A	NM_014520.4(MYBBP1A):c.3492C>T:p.Pro1164=	coding	Benign
17	4541555	C	T	C4541555T	MYBBP1A	NM_014520.4(MYBBP1A):c.3205G>A:p.Val1069Met	coding	Benign
17	4543117	G	A	G4543117A	MYBBP1A	NM_014520.4(MYBBP1A):c.2688C>T:p.Arg896=	coding	Benign
17	4544499	G	A	G4544499A	MYBBP1A	NM_014520.4(MYBBP1A):c.2629C>T:p.Arg877Cys	coding	Benign
17	4544754	G	T	G4544754T	MYBBP1A	NM_014520.4(MYBBP1A):c.2478C>A:p.Ile826=	coding	Benign
17	4544838	G	A	G4544838A	MYBBP1A	NM_014520.4(MYBBP1A):c.2394C>T:p.Ala798=	coding	Benign
17	4544853	G	A	G4544853A	MYBBP1A	NM_014520.4(MYBBP1A):c.2379C>T:p.Leu793=	coding	Benign
17	4545094	G	T	G4545094T	MYBBP1A	NM_014520.4(MYBBP1A):c.2242C>A:p.Arg748Ser	coding	Benign
17	4545102	T	C	T4545102C	MYBBP1A	NM_014520.4(MYBBP1A):c.2234A>G:p.Glu745Gly	coding	Benign
17	4545855	T	C	T4545855C	MYBBP1A	NM_014520.4(MYBBP1A):c.1912A>G:p.Lys638Glu	coding	Benign
17	4545946	C	T	C4545946T	MYBBP1A	NM_014520.4(MYBBP1A):c.1825-4G>A	noncoding	Benign
17	4548587	T	C	T4548587C	MYBBP1A	NM_014520.4(MYBBP1A):c.1493A>G:p.Lys498Arg	coding	Benign
17	4550144	C	T	C4550144T	MYBBP1A	NM_014520.4(MYBBP1A):c.1233G>A:p.Arg411=	coding	Benign
17	4554961	G	A	G4554961A	MYBBP1A	NM_014520.4(MYBBP1A):c.199-5C>T	noncoding	Benign
17	4555241	T	C	T4555241C	MYBBP1A	NM_014520.4(MYBBP1A):c.84A>G:p.Leu28=	coding	Benign
17	4555299	G	A	G4555299A	MYBBP1A	NM_014520.4(MYBBP1A):c.26C>T:p.Pro9Leu	coding	Benign
17	4558296	G	A	G4558296A	GGT6	NM_001288702.2(GGT6):c.1219C>T:p.Pro407Ser	coding	Benign
17	4558957	G	A	G4558957A	GGT6	NM_001288702.2(GGT6):c.558C>T:p.Pro186=	coding	Benign
17	4631648	G	C	G4631648C	ALOX15	NM_001140.5(ALOX15):c.1941C>G:p.Pro647=	coding	Benign
17	4632003	C	T	C4632003T	ALOX15	NM_001140.5(ALOX15):c.1695G>A:p.Pro565=	coding	Benign
17	4632019	G	A	G4632019A	ALOX15	NM_001140.5(ALOX15):c.1679C>T:p.Thr560Met	coding	Benign
17	4633137	T	C	T4633137C	ALOX15	NM_001140.5(ALOX15):c.1418+9A>G	noncoding	Benign
17	4635876	G	T	G4635876T	ALOX15	NM_001140.5(ALOX15):c.1044C>A:p.Arg348=	coding	Benign
17	4637180	G	A	G4637180A	ALOX15	NM_001140.5(ALOX15):c.886C>T:p.Leu296=	coding	Benign
17	4638613	C	T	C4638613T	ALOX15	NM_001140.5(ALOX15):c.614G>A:p.Arg205Gln	coding	Benign
17	4639458	G	C	G4639458C	ALOX15	NM_001140.5(ALOX15):c.309C>G:p.Asn103Lys	coding	Benign
17	4716497	C	T	C4716497T	ARRB2	NM_004313.4(ARRB2):c.246C>T:p.Ile82=	coding	Benign
17	4719367	C	T	C4719367T	ARRB2	NM_004313.4(ARRB2):c.864C>T:p.Leu288=	coding	Benign
17	4735235	G	A	G4735235A	CXCL16	NM_001100812.1(CXCL16):c.632C>T:p.Pro211Leu	coding	Benign
17	4739388	C	T	C4739388T	CXCL16	NM_001100812.1(CXCL16):c.9G>A:p.Gly3=	coding	Benign
17	4740923	A	G	A4740923G	ZMYND15	NM_001136046.3(ZMYND15):c.375A>G:p.Glu125=	coding	Benign
17	4743360	G	A	G4743360A	ZMYND15	NM_001136046.3(ZMYND15):c.1202G>A:p.Arg401His	coding	Benign
17	4810001	C	T	C4810001T	PLD2	NM_002663.5(PLD2):c.832C>T:p.His278Tyr	coding	Benign
17	4810930	G	A	G4810930A	PLD2	NM_002663.5(PLD2):c.989G>A:p.Arg330Gln	coding	Benign
17	4817012	G	A	G4817012A	PLD2	NM_002663.5(PLD2):c.1658G>A:p.Arg553Gln	coding	Benign
17	4817140	C	T	C4817140T	PLD2	NM_002663.5(PLD2):c.1702-6C>T	noncoding	Benign
17	4818485	C	T	C4818485T	PLD2	NM_002663.5(PLD2):c.2010-9C>T	noncoding	Benign
17	4822642	C	T	C4822642T	PLD2	NM_002663.5(PLD2):c.2580C>T:p.Ile860=	coding	Benign
17	4892427	A	C	A4892427C	MINK1	NM_153827.5(MINK1):c.2113A>C:p.Ile705Leu	coding	Benign
17	4894236	C	T	C4894236T	MINK1	NM_153827.5(MINK1):c.2733C>T:p.Asp911=	coding	Benign
17	4896258	C	T	C4896258T	MINK1	NM_153827.5(MINK1):c.3531C>T:p.Leu1177=	coding	Benign
17	4897806	A	C	A4897806C	CHRNE	NM_000080.4(CHRNE):c.*930T>G	noncoding	Benign
17	4897830	C	G	C4897830G	CHRNE	NM_000080.4(CHRNE):c.*906G>C	noncoding	Benign
17	4897868	C	A	C4897868A	CHRNE	NM_000080.4(CHRNE):c.*868G>T	noncoding	Benign
17	4897899	T	C	T4897899C	CHRNE	NM_000080.4(CHRNE):c.*837A>G	noncoding	Benign
17	4897988	C	T	C4897988T	CHRNE	NM_000080.4(CHRNE):c.*748G>A	noncoding	Benign
17	4897991	C	T	C4897991T	CHRNE	NM_000080.4(CHRNE):c.*745G>A	noncoding	Benign
17	4897993	A	C	A4897993C	CHRNE	NM_000080.4(CHRNE):c.*743T>G	noncoding	Benign
17	4898126	G	A	G4898126A	CHRNE	NM_000080.4(CHRNE):c.*610C>T	noncoding	Benign
17	4898299	C	G	C4898299G	CHRNE	NM_000080.4(CHRNE):c.*437G>C	noncoding	Benign
17	4898592	A	G	A4898592G	CHRNE	NM_000080.4(CHRNE):c.*144T>C	noncoding	Benign
17	4898671	G	A	G4898671A	CHRNE	NM_000080.4(CHRNE):c.*65C>T	noncoding	Benign
17	4898675	G	A	G4898675A	CHRNE	NM_000080.4(CHRNE):c.*61C>T	noncoding	Benign
17	4898693	A	G	A4898693G	CHRNE	NM_000080.4(CHRNE):c.*43T>C	noncoding	Benign/Likely_benign
17	4898699	C	T	C4898699T	CHRNE	NM_000080.4(CHRNE):c.*37G>A	noncoding	Benign/Likely_benign
17	4898730	T	C	T4898730C	CHRNE	NM_000080.4(CHRNE):c.*6A>G	noncoding	Benign/Likely_benign
17	4898793	G	A	G4898793A	CHRNE	NM_000080.4(CHRNE):c.1425C>T:p.Leu475=	coding	Benign/Likely_benign
17	4898816	C	G	C4898816G	CHRNE	NM_000080.4(CHRNE):c.1402G>C:p.Val468Leu	coding	Benign/Likely_benign
17	4898838	C	T	C4898838T	CHRNE	NM_000080.4(CHRNE):c.1380G>A:p.Trp460Ter	coding	Pathogenic
17	4899022	T	C	T4899022C	CHRNE	NM_000080.4(CHRNE):c.1305A>G:p.Arg435=	coding	Benign
17	4899034	G	A	G4899034A	CHRNE	NM_000080.4(CHRNE):c.1293C>T:p.Ala431=	coding	Benign
17	4899036	C	G	C4899036G	CHRNE	NM_000080.4(CHRNE):c.1291G>C:p.Ala431Pro	coding	Pathogenic
17	4899085	G	T	G4899085T	CHRNE	NM_000080.4(CHRNE):c.1242C>A:p.Gly414=	coding	Benign/Likely_benign
17	4899096	G	A	G4899096A	CHRNE	NM_000080.4(CHRNE):c.1231C>T:p.Gln411Ter	coding	Pathogenic
17	4899108	C	G	C4899108G	CHRNE	NM_000080.4(CHRNE):c.1220-1G>C	coding	Pathogenic/Likely_pathogenic
17	4899112	C	T	C4899112T	CHRNE	NM_000080.4(CHRNE):c.1220-5G>A	noncoding	Benign/Likely_benign
17	4899152	G	A	G4899152A	CHRNE	NM_000080.4(CHRNE):c.1220-45C>T	noncoding	Benign/Likely_benign
17	4899298	C	A	C4899298A	CHRNE	NM_000080.4(CHRNE):c.1119G>T:p.Ser373=	coding	Benign
17	4899341	G	A	G4899341A	CHRNE	NM_000080.4(CHRNE):c.1076C>T:p.Pro359Leu	coding	Benign/Likely_benign
17	4899385	C	G	C4899385G	CHRNE	NM_000080.4(CHRNE):c.1033-1G>C	coding	Pathogenic/Likely_pathogenic
17	4899386	T	A	T4899386A	CHRNE	NM_000080.4(CHRNE):c.1033-2A>T	noncoding	Pathogenic
17	4899390	G	A	G4899390A	CHRNE	NM_000080.4(CHRNE):c.1033-6C>T	noncoding	Benign
17	4899483	G	C	G4899483C	CHRNE	NM_000080.4(CHRNE):c.1017C>G:p.Ser339=	coding	Benign
17	4899534	G	A	G4899534A	CHRNE	NM_000080.4(CHRNE):c.966C>T:p.Cys322=	coding	Benign
17	4899583	C	T	C4899583T	CHRNE	NM_000080.4(CHRNE):c.918-1G>A	coding	Pathogenic
17	4899588	G	C	G4899588C	CHRNE	NM_000080.4(CHRNE):c.918-6C>G	noncoding	Benign/Likely_benign
17	4900778	G	C	G4900778C	CHRNE	NM_000080.4(CHRNE):c.917+15C>G	coding	Benign
17	4900845	G	A	G4900845A	CHRNE	NM_000080.4(CHRNE):c.865C>T:p.Leu289Phe	coding	Pathogenic
17	4900856	A	G	A4900856G	CHRNE	NM_000080.4(CHRNE):c.854T>C:p.Val285Ala	coding	Pathogenic
17	4900875	C	A	C4900875A	CHRNE	NM_000080.4(CHRNE):c.835G>T:p.Val279Phe	coding	Pathogenic
17	4900909	T	C	T4900909C	CHRNE	NM_000080.4(CHRNE):c.803-2A>G	coding	Pathogenic
17	4900993	G	A	G4900993A	CHRNE	NM_001145536.2(C17orf107):c.*460G>A	coding	Pathogenic
17	4900998	G	A	G4900998A	CHRNE	NM_000080.4(CHRNE):c.794C>T:p.Pro265Leu	coding	Pathogenic/Likely_pathogenic
17	4901028	G	A	G4901028A	CHRNE	NM_000080.4(CHRNE):c.764C>T:p.Ser255Leu	coding	Pathogenic
17	4901071	G	A	G4901071A	CHRNE	NM_000080.4(CHRNE):c.721C>T:p.Leu241Phe	coding	Pathogenic
17	4901571	G	A	G4901571A	CHRNE	NM_000080.4(CHRNE):c.555C>T:p.Asp185=	coding	Benign/Likely_benign
17	4901607	G	A	G4901607A	CHRNE	NM_000080.4(CHRNE):c.519C>T:p.Ala173=	coding	Benign
17	4901641	C	T	C4901641T	CHRNE	NM_000080.4(CHRNE):c.501-16G>A	coding	Pathogenic
17	4901883	G	A	G4901883A	CHRNE	NM_000080.4(CHRNE):c.500+49C>T	coding	Benign
17	4901932	C	A	C4901932A	CHRNE	NM_000080.4(CHRNE):c.500G>T:p.Arg167Leu	coding	Pathogenic
17	4901990	A	T	A4901990T	CHRNE	NM_000080.4(CHRNE):c.442T>A:p.Cys148Ser	coding	Pathogenic
17	4902071	C	A	C4902071A	CHRNE	NM_000080.4(CHRNE):c.361G>T:p.Gly121Ter	coding	Pathogenic
17	4902094	G	A	G4902094A	CHRNE	NM_000080.4(CHRNE):c.345-7C>T	coding	Benign
17	4902216	C	T	C4902216T	CHRNE	NM_000080.4(CHRNE):c.344+1G>A	coding	Pathogenic
17	4902311	G	A	G4902311A	CHRNE	NM_000080.4(CHRNE):c.250C>T:p.Arg84Ter	coding	Pathogenic
17	4902461	A	G	A4902461G	CHRNE	NM_000080.4(CHRNE):c.223T>C:p.Trp75Arg	coding	Pathogenic
17	4902757	C	A	C4902757A	CHRNE	NM_000080.4(CHRNE):c.53G>T:p.Gly18Val	coding	Benign
17	4902954	C	T	C4902954T	CHRNE	NM_000080.4(CHRNE):c.46+64G>A	noncoding	Benign
17	4903019	G	A	G4903019A	CHRNE	NM_000080.4(CHRNE):c.45C>T:p.Leu15=	coding	Benign
17	4903071	C	T	C4903071T	CHRNE	NM_000080.4(CHRNE):c.-8G>A	noncoding	Benign
17	4903133	G	A	G4903133A	CHRNE	NM_000080.3(CHRNE):c.-70C>T	noncoding	Benign
17	4903158	C	T	C4903158T	CHRNE	NM_000080.3(CHRNE):c.-95G>A	noncoding	Pathogenic
17	4903159	G	A	G4903159A	CHRNE	NM_000080.4(CHRNE):c.-11-85C>T	noncoding	Pathogenic
17	4903443	A	T	A4903443T	CHRNE	NC_000017.11:g.4903443A>T	noncoding	Benign
17	4932600	T	C	T4932600C	GP1BA	NM_000173.7(GP1BA):c.-5T>C	noncoding	Benign
17	4933119	C	T	C4933119T	GP1BA	NM_000173.7(GP1BA):c.515C>T:p.Ala172Val	coding	Pathogenic
17	4933277	T	A	T4933277A	GP1BA	NM_000173.7(GP1BA):c.673T>A:p.Cys225Ser	coding	Pathogenic
17	4933350	G	T	G4933350T	GP1BA	NM_000173.7(GP1BA):c.746G>T:p.Gly249Val	coding	Pathogenic
17	4933378	C	T	C4933378T	GP1BA	NM_000173.7(GP1BA):c.774C>T:p.Asn258=	coding	Benign
17	4933590	G	A	G4933590A	GP1BA	NM_000173.7(GP1BA):c.986G>A:p.Trp329Ter	coding	Pathogenic
17	4933678	A	G	A4933678G	GP1BA	NM_000173.7(GP1BA):c.1074A>G:p.Arg358=	coding	Benign
17	4933681	G	A	G4933681A	GP1BA	NM_000173.7(GP1BA):c.1077G>A:p.Trp359Ter	coding	Pathogenic
17	4933915	A	G	A4933915G	GP1BA	NM_000173.7(GP1BA):c.1311A>G:p.Pro437=	coding	Benign
17	4934224	G	A	G4934224A	GP1BA	NM_000173.7(GP1BA):c.1620G>A:p.Trp540Ter	coding	Pathogenic
17	4938176	G	T	G4938176T	SLC25A11	NM_003562.5(SLC25A11):c.715C>A:p.Pro239Thr	coding	Pathogenic
17	4938183	G	A	G4938183A	SLC25A11	NM_003562.5(SLC25A11):c.708C>T:p.Ala236=	coding	Pathogenic
17	4938785	T	C	T4938785C	SLC25A11	NM_003562.5(SLC25A11):c.439A>G:p.Met147Val	coding	Pathogenic
17	4938803	C	T	C4938803T	SLC25A11	NM_003562.5(SLC25A11):c.421G>A:p.Glu141Lys	coding	Pathogenic
17	4940947	C	T	C4940947T	RNF167	NM_015528.3(RNF167):c.38C>T:p.Ala13Val	coding	Benign
17	4941166	C	T	C4941166T	RNF167	NM_015528.3(RNF167):c.165+9C>T	noncoding	Benign
17	4945970	C	A	C4945970A	PFN1	NM_005022.4(PFN1):c.353G>T:p.Gly118Val	coding	Pathogenic
17	4945973	T	C	T4945973C	PFN1	NM_005022.4(PFN1):c.350A>G:p.Glu117Gly	coding	Pathogenic
17	4945982	A	G	A4945982G	PFN1	NM_005022.4(PFN1):c.341T>C:p.Met114Thr	coding	Pathogenic
17	4945989	G	A	G4945989A	PFN1	NM_005022.4(PFN1):c.334C>T:p.Leu112=	coding	Benign
17	4946742	A	C	A4946742C	PFN1	NM_005022.4(PFN1):c.211T>G:p.Cys71Gly	coding	Pathogenic
17	4951097	G	A	G4951097A	ENO3	NM_001374524.1(ENO3):c.25+467G>A	noncoding	Benign
17	4951185	C	T	C4951185T	ENO3	NM_053013.4(ENO3):c.-3+3C>T	noncoding	Benign
17	4952785	C	T	C4952785T	ENO3	NM_053013.4(ENO3):c.86-10C>T	noncoding	Benign/Likely_benign
17	4953081	A	G	A4953081G	ENO3	NM_053013.4(ENO3):c.212A>G:p.Asn71Ser	coding	Benign
17	4953095	G	C	G4953095C	ENO3	NM_053013.4(ENO3):c.226G>C:p.Ala76Pro	coding	Benign
17	4953126	G	A	G4953126A	ENO3	NM_053013.4(ENO3):c.240+17G>A	noncoding	Benign
17	4953285	T	C	T4953285C	ENO3	NM_053013.4(ENO3):c.254T>C:p.Val85Ala	coding	Benign
17	4955097	G	A	G4955097A	ENO3	NM_053013.4(ENO3):c.467G>A:p.Gly156Asp	coding	Pathogenic
17	4955528	G	A	G4955528A	ENO3	NM_053013.4(ENO3):c.789G>A:p.Ser263=	coding	Benign
17	4955528	G	C	G4955528C	ENO3	NM_053013.4(ENO3):c.789G>C:p.Ser263=	coding	Benign
17	4955567	C	T	C4955567T	ENO3	NM_053013.4(ENO3):c.828C>T:p.Leu276=	coding	Benign/Likely_benign
17	4956069	C	T	C4956069T	ENO3	NM_053013.4(ENO3):c.993C>T:p.Ala331=	coding	Benign
17	4956070	G	A	G4956070A	ENO3	NM_053013.4(ENO3):c.994G>A:p.Val332Ile	coding	Benign
17	4956117	C	T	C4956117T	ENO3	NM_053013.4(ENO3):c.1041C>T:p.Ile347=	coding	Benign
17	4956161	C	T	C4956161T	ENO3	NM_053013.4(ENO3):c.1067+18C>T	noncoding	Benign
17	4956689	T	C	T4956689C	ENO3	NM_053013.4(ENO3):c.1176+8T>C	noncoding	Benign/Likely_benign
17	4956862	G	A	G4956862A	ENO3	NM_053013.4(ENO3):c.1208G>A:p.Arg403His	coding	Benign/Likely_benign
17	4956892	A	G	A4956892G	ENO3	NM_053013.4(ENO3):c.1235+3A>G	noncoding	Benign
17	4956961	C	T	C4956961T	ENO3	NM_053013.4(ENO3):c.1236-17C>T	noncoding	Benign
17	4960115	A	G	A4960115G	SPAG7	NM_004890.3(SPAG7):c.328-4T>C	noncoding	Benign
17	4960245	T	C	T4960245C	SPAG7	NM_004890.3(SPAG7):c.316A>G:p.Ile106Val	coding	Benign
17	4960279	G	A	G4960279A	SPAG7	NM_004890.3(SPAG7):c.282C>T:p.Ser94=	coding	Benign
17	4973208	C	T	C4973208T	CAMTA2	NM_015099.4(CAMTA2):c.2247G>A:p.Pro749=	coding	Benign
17	4980293	G	A	G4980293A	CAMTA2	NM_015099.4(CAMTA2):c.1029C>T:p.His343=	coding	Benign
17	4982080	C	A	C4982080A	CAMTA2	NM_015099.4(CAMTA2):c.411+9G>T	noncoding	Benign
17	4998169	G	C	G4998169C	KIF1C	NM_006612.6(KIF1C):c.-149+13G>C	noncoding	Benign
17	5000818	C	T	C5000818T	KIF1C	NM_006612.6(KIF1C):c.153C>T:p.Thr51=	coding	Benign/Likely_benign
17	5000848	G	A	G5000848A	KIF1C	NM_006612.6(KIF1C):c.183G>A:p.Ser61=	coding	Pathogenic
17	5001081	T	A	T5001081A	KIF1C	NM_006612.6(KIF1C):c.184-141T>A	noncoding	Benign
17	5001214	T	C	T5001214C	KIF1C	NM_006612.6(KIF1C):c.184-8T>C	noncoding	Benign
17	5001269	T	C	T5001269C	KIF1C	NM_006612.6(KIF1C):c.231T>C:p.Ile77=	coding	Benign
17	5001308	C	T	C5001308T	KIF1C	NM_006612.6(KIF1C):c.270C>T:p.Asn90=	coding	Benign
17	5001343	G	C	G5001343C	KIF1C;INCA1	NM_006612.6(KIF1C):c.305G>C:p.Gly102Ala	coding	Pathogenic
17	5001832	A	G	A5001832G	KIF1C	NM_006612.6(KIF1C):c.364-227A>G	noncoding	Benign
17	5002539	C	T	C5002539T	KIF1C	NM_006612.6(KIF1C):c.505C>T:p.Arg169Trp	coding	Pathogenic
17	5002561	C	T	C5002561T	KIF1C	NM_006612.6(KIF1C):c.527C>T:p.Pro176Leu	coding	Pathogenic/Likely_pathogenic
17	5003808	G	A	G5003808A	KIF1C	NM_006612.6(KIF1C):c.799-43G>A	noncoding	Benign
17	5004018	G	A	G5004018A	KIF1C	NM_006612.6(KIF1C):c.885G>A:p.Ser295=	coding	Benign
17	5004663	A	G	A5004663G	KIF1C	NM_006612.6(KIF1C):c.1019+18A>G	noncoding	Benign
17	5006907	C	T	C5006907T	KIF1C	NM_006612.6(KIF1C):c.1166-8C>T	noncoding	Benign
17	5007042	G	A	G5007042A	KIF1C	NM_006612.6(KIF1C):c.1293G>A:p.Thr431=	coding	Benign
17	5014776	C	T	C5014776T	KIF1C	NM_006612.6(KIF1C):c.1605C>T:p.Thr535=	coding	Benign
17	5014827	A	G	A5014827G	KIF1C	NM_006612.6(KIF1C):c.1656A>G:p.Pro552=	coding	Benign
17	5020485	T	A	T5020485A	KIF1C	NM_006612.6(KIF1C):c.1751-7T>A	noncoding	Benign
17	5020556	G	A	G5020556A	KIF1C	NM_006612.6(KIF1C):c.1815G>A:p.Leu605=	coding	Benign/Likely_benign
17	5020689	G	T	G5020689T	KIF1C	NM_006612.6(KIF1C):c.1937+11G>T	noncoding	Benign
17	5020802	C	G	C5020802G	KIF1C	NM_006612.6(KIF1C):c.1938-4C>G	noncoding	Benign
17	5022186	C	T	C5022186T	KIF1C	NM_006612.6(KIF1C):c.2105C>T:p.Thr702Ile	coding	Benign/Likely_benign
17	5022272	C	T	C5022272T	KIF1C	NM_006612.6(KIF1C):c.2191C>T:p.Arg731Ter	coding	Pathogenic
17	5022379	C	T	C5022379T	KIF1C	NM_006612.6(KIF1C):c.2298C>T:p.His766=	coding	Benign
17	5022406	C	T	C5022406T	KIF1C	NM_006612.6(KIF1C):c.2325C>T:p.Ala775=	coding	Benign
17	5022831	C	T	C5022831T	KIF1C	NM_006612.6(KIF1C):c.2628+122C>T	noncoding	Benign
17	5023485	T	C	T5023485C	KIF1C	NM_006612.6(KIF1C):c.2646T>C:p.Asn882=	coding	Benign
17	5023565	C	A	C5023565A	KIF1C	NM_006612.6(KIF1C):c.2726C>A:p.Pro909Gln	coding	Benign
17	5023587	A	G	A5023587G	KIF1C	NM_006612.6(KIF1C):c.2748A>G:p.Pro916=	coding	Benign
17	5023826	G	A	G5023826A	KIF1C	NM_006612.6(KIF1C):c.2987G>A:p.Ser996Asn	coding	Benign
17	5023866	C	T	C5023866T	KIF1C	NM_006612.6(KIF1C):c.3027C>T:p.Val1009=	coding	Benign/Likely_benign
17	5023888	G	A	G5023888A	KIF1C	NM_006612.6(KIF1C):c.3049G>A:p.Ala1017Thr	coding	Benign
17	5033250	C	T	C5033250T	SLC52A1	NM_017986.4(SLC52A1):c.1134+11G>A	noncoding	Benign
17	5033560	C	T	C5033560T	SLC52A1	NM_017986.4(SLC52A1):c.929G>A:p.Arg310His	coding	Benign
17	5033677	G	A	G5033677A	SLC52A1	NM_017986.4(SLC52A1):c.812C>T:p.Ala271Val	coding	Benign
17	5033979	G	A	G5033979A	SLC52A1	NM_017986.4(SLC52A1):c.510C>T:p.Leu170=	coding	Benign
17	5034118	G	A	G5034118A	SLC52A1	NM_017986.4(SLC52A1):c.371C>T:p.Ala124Val	coding	Benign
17	5034280	T	C	T5034280C	SLC52A1	NM_017986.4(SLC52A1):c.209A>G:p.Gln70Arg	coding	Benign
17	5155520	A	G	A5155520G	USP6	NM_001304284.2(USP6):c.2742A>G:p.Lys914=	coding	Benign
17	5162994	C	T	C5162994T	USP6	NM_001304284.2(USP6):c.3026C>T:p.Ser1009Phe	coding	Benign
17	5170717	C	T	C5170717T	USP6	NM_001304284.2(USP6):c.3756C>T:p.Ser1252=	coding	Benign
17	5381385	T	C	T5381385C	RABEP1	NM_004703.6(RABEP1):c.2371-4T>C	noncoding	Benign
17	5388920	G	A	G5388920A	NUP88	NM_002532.6(NUP88):c.1525C>T:p.Arg509Ter	coding	Pathogenic
17	5394973	C	A	C5394973A	NUP88	NM_002532.6(NUP88):c.1300G>T:p.Asp434Tyr	coding	Pathogenic
17	5426255	A	G	A5426255G	RPAIN	NM_001160243.1(RPAIN):c.445A>G:p.Ser149Gly	coding	Benign
17	5433040	A	G	A5433040G	C1QBP	NM_001212.4(C1QBP):c.824T>C:p.Leu275Pro	coding	Pathogenic
17	5433041	G	A	G5433041A	C1QBP	NM_001212.4(C1QBP):c.823C>T:p.Leu275Phe	coding	Pathogenic
17	5433125	C	A	C5433125A	C1QBP	NM_001212.4(C1QBP):c.739G>T:p.Gly247Trp	coding	Pathogenic
17	5433172	G	T	G5433172T	C1QBP	NM_001212.4(C1QBP):c.700-8C>A	noncoding	Benign
17	5433380	G	C	G5433380C	C1QBP	NM_001212.4(C1QBP):c.612C>G:p.Phe204Leu	coding	Pathogenic
17	5433688	C	G	C5433688G	C1QBP	NM_001212.4(C1QBP):c.557G>C:p.Cys186Ser	coding	Pathogenic
17	5438945	G	A	G5438945A	C1QBP	NM_001212.4(C1QBP):c.129C>T:p.Phe43=	coding	Benign
17	5517738	G	C	G5517738C	NLRP1	NM_033004.4(NLRP1):c.4057+8C>G	noncoding	Benign
17	5521016	C	T	C5521016T	NLRP1	NM_033004.4(NLRP1):c.3784-4G>A	noncoding	Benign/Likely_benign
17	5521616	C	T	C5521616T	NLRP1	NM_033004.4(NLRP1):c.3691G>A:p.Val1231Ile	coding	Benign
17	5521666	G	C	G5521666C	NLRP1	NM_033004.4(NLRP1):c.3641C>G:p.Pro1214Arg	coding	Pathogenic
17	5521756	A	G	A5521756G	NLRP1	NM_033004.4(NLRP1):c.3551T>C:p.Met1184Thr	coding	Benign
17	5521757	T	C	T5521757C	NLRP1	NM_033004.4(NLRP1):c.3550A>G:p.Met1184Val	coding	Benign
17	5532913	G	A	G5532913A	NLRP1	NM_033004.4(NLRP1):c.3205C>T:p.His1069Tyr	coding	Benign
17	5533976	C	T	C5533976T	NLRP1	NM_033004.4(NLRP1):c.2973G>A:p.Val991=	coding	Benign
17	5536950	C	T	C5536950T	NLRP1	NM_033004.4(NLRP1):c.2871-10G>A	noncoding	Benign
17	5541951	C	T	C5541951T	NLRP1	NM_033004.4(NLRP1):c.2605G>A:p.Glu869Lys	coding	Benign
17	5553508	G	A	G5553508A	NLRP1	NM_033004.4(NLRP1):c.2406C>T:p.Ser802=	coding	Benign
17	5558432	G	T	G5558432T	NLRP1	NM_033004.4(NLRP1):c.2264C>A:p.Thr755Asn	coding	Pathogenic
17	5558614	C	T	C5558614T	NLRP1	NM_033004.4(NLRP1):c.2082G>A:p.Leu694=	coding	Benign
17	5558809	G	T	G5558809T	NLRP1	NM_033004.4(NLRP1):c.1887C>A:p.Phe629Leu	coding	Benign
17	5558851	G	A	G5558851A	NLRP1	NM_033004.4(NLRP1):c.1845C>T:p.Ile615=	coding	Benign/Likely_benign
17	5558893	G	A	G5558893A	NLRP1	NM_033004.4(NLRP1):c.1803C>T:p.Ile601=	coding	Benign
17	5558895	T	A	T5558895A	NLRP1	NM_033004.4(NLRP1):c.1801A>T:p.Ile601Phe	coding	Benign
17	5559354	T	C	T5559354C	NLRP1	NM_033004.4(NLRP1):c.1342A>G:p.Ile448Val	coding	Benign
17	5559485	C	T	C5559485T	NLRP1	NM_033004.4(NLRP1):c.1211G>A:p.Arg404Gln	coding	Benign
17	5559583	C	T	C5559583T	NLRP1	NM_033004.4(NLRP1):c.1113G>A:p.Glu371=	coding	Benign
17	5559635	C	T	C5559635T	NLRP1	NM_033004.4(NLRP1):c.1061G>A:p.Gly354Asp	coding	Benign
17	5559849	G	A	G5559849A	NLRP1	NM_033004.4(NLRP1):c.847C>T:p.Leu283Phe	coding	Benign
17	5581986	G	A	G5581986A	NLRP1	NM_033004.4(NLRP1):c.525C>T:p.Asn175=	coding	Benign
17	5583728	A	G	A5583728G	NLRP1	NM_033004.4(NLRP1):c.230T>C:p.Met77Thr	coding	Pathogenic
17	5583798	C	T	C5583798T	NLRP1	NM_033004.4(NLRP1):c.160G>A:p.Ala54Thr	coding	Pathogenic
17	5583814	C	T	C5583814T	NLRP1	NM_033004.4(NLRP1):c.144G>A:p.Thr48=	coding	Benign
17	5583844	C	G	C5583844G	NLRP1	NM_033004.4(NLRP1):c.114G>C:p.Ser38=	coding	Benign
17	6423802	A	G	A6423802G	AIPL1	NM_014336.5(AIPL1):c.*1658T>C	noncoding	Benign/Likely_benign
17	6425489	G	A	G6425489A	AIPL1	NM_014336.5(AIPL1):c.1126C>T:p.Pro376Ser	coding	Benign/Likely_benign
17	6425611	G	T	G6425611T	AIPL1	NM_014336.5(AIPL1):c.1004C>A:p.Pro335His	coding	Benign
17	6425761	G	T	G6425761T	AIPL1	NM_014336.5(AIPL1):c.854C>A:p.Ala285Glu	coding	Benign
17	6425762	C	T	C6425762T	AIPL1	NM_014336.5(AIPL1):c.853G>A:p.Ala285Thr	coding	Benign
17	6425781	C	T	C6425781T	AIPL1	NM_014336.5(AIPL1):c.834G>A:p.Trp278Ter	coding	Pathogenic
17	6425800	C	G	C6425800G	AIPL1	NM_014336.5(AIPL1):c.815G>C:p.Arg272Pro	coding	Pathogenic
17	6426597	C	T	C6426597T	AIPL1	NM_014336.5(AIPL1):c.784+18G>A	coding	Benign
17	6426615	C	T	C6426615T	AIPL1	NM_014336.5(AIPL1):c.784G>A:p.Gly262Ser	coding	Pathogenic/Likely_pathogenic
17	6426684	A	G	A6426684G	AIPL1	NM_014336.5(AIPL1):c.715T>C:p.Cys239Arg	coding	Pathogenic
17	6426734	C	T	C6426734T	AIPL1	NM_014336.5(AIPL1):c.665G>A:p.Trp222Ter	coding	Pathogenic
17	6426748	T	C	T6426748C	AIPL1	NM_014336.5(AIPL1):c.651A>G:p.Pro217=	coding	Benign/Likely_benign
17	6426906	A	T	A6426906T	AIPL1	NM_014336.5(AIPL1):c.617T>A:p.Ile206Asn	coding	Pathogenic
17	6426934	C	G	C6426934G	AIPL1	NM_014336.5(AIPL1):c.589G>C:p.Ala197Pro	coding	Pathogenic
17	6426941	G	C	G6426941C	AIPL1	NM_014336.5(AIPL1):c.582C>G:p.Tyr194Ter	coding	Pathogenic
17	6426976	C	A	C6426976A	AIPL1	NM_014336.5(AIPL1):c.547G>T:p.Gly183Ter	coding	Pathogenic
17	6427058	C	G	C6427058G	AIPL1	NM_014336.5(AIPL1):c.466-1G>C	coding	Pathogenic
17	6428362	G	A	G6428362A	AIPL1	NM_014336.5(AIPL1):c.421C>T:p.Gln141Ter	coding	Pathogenic
17	6428419	C	G	C6428419G	AIPL1	NM_014336.5(AIPL1):c.364G>C:p.Gly122Arg	coding	Pathogenic
17	6428442	G	A	G6428442A	AIPL1	NM_014336.5(AIPL1):c.341C>T:p.Thr114Ile	coding	Benign/Likely_benign
17	6428483	T	C	T6428483C	AIPL1	NM_014336.5(AIPL1):c.300A>G:p.Leu100=	coding	Benign/Likely_benign
17	6428497	C	T	C6428497T	AIPL1	NM_014336.5(AIPL1):c.286G>A:p.Val96Ile	coding	Benign/Likely_benign
17	6428508	T	C	T6428508C	AIPL1	NM_014336.5(AIPL1):c.277-2A>G	noncoding	Pathogenic
17	6428516	T	G	T6428516G	AIPL1	NM_014336.5(AIPL1):c.277-10A>C	noncoding	Benign/Likely_benign
17	6433927	C	G	C6433927G	AIPL1	NM_014336.5(AIPL1):c.268G>C:p.Asp90His	coding	Benign/Likely_benign
17	6433930	A	G	A6433930G	AIPL1	NM_014336.5(AIPL1):c.265T>C:p.Cys89Arg	coding	Pathogenic
17	6433967	A	G	A6433967G	AIPL1	NM_014336.5(AIPL1):c.228T>C:p.Leu76=	coding	Benign
17	6433980	C	T	C6433980T	AIPL1	NM_014336.5(AIPL1):c.215G>A:p.Trp72Ter	coding	Pathogenic
17	6433984	C	A	C6433984A	AIPL1	NM_014336.5(AIPL1):c.211G>T:p.Val71Phe	coding	Pathogenic
17	6435005	T	A	T6435005A	AIPL1	NM_014336.5(AIPL1):c.96+4A>T	coding	Pathogenic
17	6435055	A	G	A6435055G	AIPL1	NM_014336.5(AIPL1):c.50T>C:p.Leu17Pro	coding	Pathogenic
17	6451460	C	T	C6451460T	PITPNM3	NM_031220.4(PITPNM3):c.*3878G>A	noncoding	Benign
17	6451604	C	T	C6451604T	PITPNM3	NM_031220.4(PITPNM3):c.*3734G>A	noncoding	Benign
17	6451615	C	T	C6451615T	PITPNM3	NM_031220.4(PITPNM3):c.*3723G>A	noncoding	Benign
17	6451630	C	T	C6451630T	PITPNM3	NM_031220.4(PITPNM3):c.*3708G>A	noncoding	Benign
17	6451645	T	C	T6451645C	PITPNM3	NM_031220.4(PITPNM3):c.*3693A>G	noncoding	Benign
17	6451653	T	G	T6451653G	PITPNM3	NM_031220.4(PITPNM3):c.*3685A>C	noncoding	Benign
17	6451777	C	T	C6451777T	PITPNM3	NM_031220.4(PITPNM3):c.*3561G>A	noncoding	Benign
17	6451797	G	A	G6451797A	PITPNM3	NM_031220.4(PITPNM3):c.*3541C>T	noncoding	Benign
17	6451829	G	A	G6451829A	PITPNM3	NM_031220.4(PITPNM3):c.*3509C>T	noncoding	Benign
17	6451948	G	A	G6451948A	PITPNM3	NM_031220.4(PITPNM3):c.*3390C>T	noncoding	Benign
17	6452085	C	G	C6452085G	PITPNM3	NM_031220.4(PITPNM3):c.*3253G>C	noncoding	Benign
17	6452099	G	A	G6452099A	PITPNM3	NM_031220.4(PITPNM3):c.*3239C>T	noncoding	Benign
17	6452357	C	T	C6452357T	PITPNM3	NM_031220.4(PITPNM3):c.*2981G>A	noncoding	Benign
17	6452508	C	G	C6452508G	PITPNM3	NM_031220.4(PITPNM3):c.*2830G>C	noncoding	Benign
17	6453250	T	C	T6453250C	PITPNM3	NM_031220.4(PITPNM3):c.*2088A>G	noncoding	Benign
17	6453277	G	A	G6453277A	PITPNM3	NM_031220.4(PITPNM3):c.*2061C>T	noncoding	Benign
17	6453429	C	G	C6453429G	PITPNM3	NM_031220.4(PITPNM3):c.*1909G>C	noncoding	Benign
17	6453498	G	A	G6453498A	PITPNM3	NM_031220.4(PITPNM3):c.*1840C>T	noncoding	Benign
17	6453721	T	C	T6453721C	PITPNM3	NM_031220.4(PITPNM3):c.*1617A>G	noncoding	Benign
17	6454025	C	G	C6454025G	PITPNM3	NM_031220.4(PITPNM3):c.*1313G>C	noncoding	Benign
17	6454039	G	A	G6454039A	PITPNM3	NM_031220.4(PITPNM3):c.*1299C>T	noncoding	Benign
17	6454115	G	A	G6454115A	PITPNM3	NM_031220.4(PITPNM3):c.*1223C>T	noncoding	Benign
17	6454414	C	T	C6454414T	PITPNM3	NM_031220.4(PITPNM3):c.*924G>A	noncoding	Benign
17	6454514	C	A	C6454514A	PITPNM3	NM_031220.4(PITPNM3):c.*824G>T	noncoding	Benign
17	6454697	G	A	G6454697A	PITPNM3	NM_031220.4(PITPNM3):c.*641C>T	noncoding	Benign
17	6454762	A	G	A6454762G	PITPNM3	NM_031220.4(PITPNM3):c.*576T>C	noncoding	Benign
17	6454777	G	C	G6454777C	PITPNM3	NM_031220.4(PITPNM3):c.*561C>G	noncoding	Benign
17	6454782	C	G	C6454782G	PITPNM3	NM_031220.4(PITPNM3):c.*556G>C	noncoding	Benign
17	6454783	G	A	G6454783A	PITPNM3	NM_031220.4(PITPNM3):c.*555C>T	noncoding	Benign
17	6454854	A	G	A6454854G	PITPNM3	NM_031220.4(PITPNM3):c.*484T>C	noncoding	Benign
17	6455140	C	T	C6455140T	PITPNM3	NM_031220.4(PITPNM3):c.*198G>A	noncoding	Benign
17	6455304	C	A	C6455304A	PITPNM3	NM_031220.4(PITPNM3):c.*34G>T	noncoding	Benign
17	6455557	G	A	G6455557A	PITPNM3	NM_031220.4(PITPNM3):c.2706C>T:p.Ile902=	coding	Benign
17	6461391	C	T	C6461391T	PITPNM3	NM_031220.4(PITPNM3):c.2472G>A:p.Leu824=	coding	Benign
17	6461433	A	G	A6461433G	PITPNM3	NM_031220.4(PITPNM3):c.2430T>C:p.Asp810=	coding	Benign
17	6461561	T	C	T6461561C	PITPNM3	NM_031220.4(PITPNM3):c.2307-5A>G	noncoding	Benign
17	6463878	G	A	G6463878A	PITPNM3	NM_031220.4(PITPNM3):c.2160C>T:p.Gly720=	coding	Benign
17	6464150	G	A	G6464150A	PITPNM3	NM_031220.4(PITPNM3):c.2156+20C>T	noncoding	Benign
17	6468418	A	G	A6468418G	PITPNM3	NM_031220.4(PITPNM3):c.1774-77T>C	noncoding	Benign
17	6470241	G	A	G6470241A	PITPNM3	NM_031220.4(PITPNM3):c.1773+19C>T	noncoding	Benign
17	6470362	G	A	G6470362A	PITPNM3	NM_031220.4(PITPNM3):c.1671C>T:p.Tyr557=	coding	Benign/Likely_benign
17	6470417	C	T	C6470417T	PITPNM3	NM_031220.4(PITPNM3):c.1625-9G>A	noncoding	Benign
17	6471308	G	A	G6471308A	PITPNM3	NM_031220.4(PITPNM3):c.1477C>T:p.Arg493Trp	coding	Benign
17	6472661	G	T	G6472661T	PITPNM3	NM_031220.4(PITPNM3):c.1425C>A:p.Leu475=	coding	Benign
17	6474348	C	A	C6474348A	PITPNM3	NM_031220.4(PITPNM3):c.1258+84G>T	noncoding	Benign
17	6474484	C	T	C6474484T	PITPNM3	NM_031220.4(PITPNM3):c.1206G>A:p.Ser402=	coding	Benign
17	6474562	C	T	C6474562T	PITPNM3	NM_031220.4(PITPNM3):c.1128G>A:p.Ala376=	coding	Benign/Likely_benign
17	6477223	C	G	C6477223G	PITPNM3	NM_031220.4(PITPNM3):c.901-10G>C	noncoding	Benign
17	6478037	C	T	C6478037T	PITPNM3	NM_031220.4(PITPNM3):c.838G>A:p.Ala280Thr	coding	Benign
17	6478619	G	A	G6478619A	PITPNM3	NM_031220.4(PITPNM3):c.705C>T:p.Thr235=	coding	Benign
17	6478625	G	A	G6478625A	PITPNM3	NM_031220.4(PITPNM3):c.699C>T:p.Val233=	coding	Benign
17	6483563	C	T	C6483563T	PITPNM3	NM_031220.4(PITPNM3):c.541G>A:p.Val181Ile	coding	Benign/Likely_benign
17	6483627	G	A	G6483627A	PITPNM3	NM_031220.4(PITPNM3):c.477C>T:p.Ser159=	coding	Benign
17	6483672	G	A	G6483672A	PITPNM3	NM_031220.4(PITPNM3):c.432C>T:p.Ala144=	coding	Benign
17	6484162	G	C	G6484162C	PITPNM3	NM_031220.4(PITPNM3):c.351+54C>G	noncoding	Benign
17	6484237	G	A	G6484237A	PITPNM3	NM_031220.4(PITPNM3):c.330C>T:p.Ile110=	coding	Benign
17	6503527	G	A	G6503527A	PITPNM3	NM_031220.4(PITPNM3):c.274C>T:p.Arg92Ter	coding	Pathogenic
17	6503563	C	T	C6503563T	PITPNM3	NM_031220.4(PITPNM3):c.238G>A:p.Ala80Thr	coding	Benign
17	6525347	G	C	G6525347C	PITPNM3	NM_031220.4(PITPNM3):c.226+9C>G	noncoding	Benign
17	6525366	G	A	G6525366A	PITPNM3	NM_031220.4(PITPNM3):c.216C>T:p.Asp72=	coding	Benign/Likely_benign
17	6538056	G	A	G6538056A	PITPNM3	NM_031220.4(PITPNM3):c.49C>T:p.Pro17Ser	coding	Benign
17	6538069	C	T	C6538069T	PITPNM3	NM_031220.4(PITPNM3):c.36G>A:p.Pro12=	coding	Benign
17	6556430	G	A	G6556430A	PITPNM3	NM_031220.4(PITPNM3):c.-24C>T	noncoding	Benign
17	6589856	A	G	A6589856G	KIAA0753	NM_014804.3(KIAA0753):c.2709T>C:p.Cys903=	coding	Benign
17	6589909	G	A	G6589909A	KIAA0753	NM_014804.3(KIAA0753):c.2656C>T:p.Arg886Ter	coding	Pathogenic
17	6596178	G	A	G6596178A	KIAA0753	NM_014804.3(KIAA0753):c.2338C>T:p.Arg780Cys	coding	Benign/Likely_benign
17	6596185	G	A	G6596185A	KIAA0753	NM_014804.3(KIAA0753):c.2331C>T:p.Ile777=	coding	Benign
17	6607209	T	A	T6607209A	KIAA0753	NM_014804.3(KIAA0753):c.1891A>T:p.Lys631Ter	coding	Pathogenic
17	6608421	T	C	T6608421C	KIAA0753	NM_014804.3(KIAA0753):c.1756A>G:p.Lys586Glu	coding	Benign/Likely_benign
17	6610163	G	T	G6610163T	KIAA0753	NM_014804.3(KIAA0753):c.1546-3C>A	noncoding	Pathogenic
17	6611909	G	A	G6611909A	KIAA0753	NM_014804.3(KIAA0753):c.1545+10C>T	noncoding	Benign
17	6611958	C	T	C6611958T	KIAA0753	NM_014804.3(KIAA0753):c.1506G>A:p.Pro502=	coding	Benign
17	6611963	C	T	C6611963T	KIAA0753	NM_014804.3(KIAA0753):c.1501G>A:p.Val501Met	coding	Benign
17	6611973	C	A	C6611973A	KIAA0753	NM_014804.3(KIAA0753):c.1491G>T:p.Val497=	coding	Benign
17	6612021	G	A	G6612021A	KIAA0753	NM_014804.3(KIAA0753):c.1443C>T:p.Asp481=	coding	Benign
17	6612132	A	G	A6612132G	KIAA0753	NM_014804.3(KIAA0753):c.1332T>C:p.Asp444=	coding	Benign
17	6612141	A	T	A6612141T	KIAA0753	NM_014804.3(KIAA0753):c.1323T>A:p.Tyr441Ter	coding	Pathogenic
17	6620905	T	C	T6620905C	KIAA0753	NM_014804.3(KIAA0753):c.1198A>G:p.Lys400Glu	coding	Benign
17	6623016	G	A	G6623016A	KIAA0753	NM_014804.3(KIAA0753):c.970C>T:p.Arg324Ter	coding	Pathogenic
17	6623043	G	A	G6623043A	KIAA0753	NM_014804.3(KIAA0753):c.943C>T:p.Gln315Ter	coding	Pathogenic
17	6624826	G	A	G6624826A	KIAA0753	NM_014804.3(KIAA0753):c.754C>T:p.Arg252Cys	coding	Benign/Likely_benign
17	6628180	C	T	C6628180T	KIAA0753	NM_014804.3(KIAA0753):c.655G>A:p.Val219Ile	coding	Benign
17	6628359	T	G	T6628359G	KIAA0753	NM_014804.3(KIAA0753):c.476A>C:p.His159Pro	coding	Benign
17	6628529	G	A	G6628529A	KIAA0753	NM_014804.3(KIAA0753):c.306C>T:p.His102=	coding	Benign
17	6641101	G	A	G6641101A	TXNDC17	NM_032731.4(TXNDC17):c.19G>A:p.Val7Met	coding	Benign
17	6641145	G	A	G6641145A	TXNDC17	NM_032731.4(TXNDC17):c.63G>A:p.Gln21=	coding	Benign
17	6686564	T	C	T6686564C	SLC13A5	NM_177550.4(SLC13A5):c.1576-226A>G	noncoding	Benign
17	6687534	C	G	C6687534G	SLC13A5	NM_001143838.3(SLC13A5):c.1438-1196G>C	coding	Pathogenic
17	6687748	T	C	T6687748C	SLC13A5	NM_177550.4(SLC13A5):c.1438-82A>G	noncoding	Benign
17	6687830	C	T	C6687830T	SLC13A5	NM_177550.4(SLC13A5):c.1438-164G>A	noncoding	Benign
17	6690695	C	T	C6690695T	SLC13A5	NM_177550.4(SLC13A5):c.1437+84G>A	noncoding	Benign
17	6690821	G	A	G6690821A	SLC13A5	NM_177550.4(SLC13A5):c.1395C>T:p.Asn465=	coding	Benign/Likely_benign
17	6690936	G	A	G6690936A	SLC13A5	NM_177550.4(SLC13A5):c.1280C>T:p.Ser427Leu	coding	Pathogenic
17	6691003	G	A	G6691003A	SLC13A5	NM_177550.4(SLC13A5):c.1276-63C>T	noncoding	Benign
17	6691258	C	T	C6691258T	SLC13A5	NM_177550.4(SLC13A5):c.1276-318G>A	noncoding	Benign
17	6692840	T	C	T6692840C	SLC13A5	NM_177550.4(SLC13A5):c.1275+204A>G	noncoding	Benign
17	6693927	A	G	A6693927G	SLC13A5	NM_177550.4(SLC13A5):c.1156+170T>C	noncoding	Benign
17	6694152	T	C	T6694152C	SLC13A5	NM_177550.4(SLC13A5):c.1101A>G:p.Leu367=	coding	Benign/Likely_benign
17	6694161	G	A	G6694161A	SLC13A5	NM_177550.4(SLC13A5):c.1092C>T:p.Ala364=	coding	Benign
17	6694176	C	T	C6694176T	SLC13A5	NM_177550.4(SLC13A5):c.1077G>A:p.Val359=	coding	Benign/Likely_benign
17	6695759	C	T	C6695759T	SLC13A5	NM_177550.4(SLC13A5):c.1022G>A:p.Trp341Ter	coding	Pathogenic
17	6695776	G	A	G6695776A	SLC13A5	NM_177550.4(SLC13A5):c.1005C>T:p.Pro335=	coding	Benign
17	6695784	G	A	G6695784A	SLC13A5	NM_177550.4(SLC13A5):c.997C>T:p.Arg333Ter	coding	Pathogenic
17	6695969	C	T	C6695969T	SLC13A5	NM_177550.4(SLC13A5):c.840-28G>A	noncoding	Benign
17	6696056	C	T	C6696056T	SLC13A5	NM_177550.4(SLC13A5):c.840-115G>A	noncoding	Benign
17	6696166	C	T	C6696166T	SLC13A5	NM_177550.4(SLC13A5):c.840-225G>A	noncoding	Benign
17	6700719	G	C	G6700719C	SLC13A5	NM_177550.4(SLC13A5):c.839+285C>G	noncoding	Benign
17	6701042	G	A	G6701042A	SLC13A5	NM_177550.4(SLC13A5):c.801C>T:p.Phe267=	coding	Benign/Likely_benign
17	6701142	G	A	G6701142A	SLC13A5	NM_177550.4(SLC13A5):c.717-16C>T	noncoding	Benign
17	6701389	T	G	T6701389G	SLC13A5	NM_177550.4(SLC13A5):c.717-263A>C	noncoding	Benign
17	6702959	C	G	C6702959G	SLC13A5	NM_177550.4(SLC13A5):c.716+11G>C	noncoding	Benign
17	6703031	C	T	C6703031T	SLC13A5	NM_177550.4(SLC13A5):c.655G>A:p.Gly219Arg	coding	Pathogenic/Likely_pathogenic
17	6703218	C	T	C6703218T	SLC13A5	NM_177550.4(SLC13A5):c.548-80G>A	noncoding	Benign
17	6703257	C	T	C6703257T	SLC13A5	NM_177550.4(SLC13A5):c.548-119G>A	noncoding	Benign
17	6703429	C	T	C6703429T	SLC13A5	NM_177550.4(SLC13A5):c.548-291G>A	noncoding	Benign
17	6703430	G	A	G6703430A	SLC13A5	NM_177550.4(SLC13A5):c.548-292C>T	noncoding	Benign
17	6703574	G	A	G6703574A	SLC13A5	NM_177550.4(SLC13A5):c.547+304C>T	noncoding	Benign
17	6703606	A	C	A6703606C	SLC13A5	NM_177550.4(SLC13A5):c.547+272T>G	noncoding	Benign
17	6703614	A	G	A6703614G	SLC13A5	NM_177550.4(SLC13A5):c.547+264T>C	noncoding	Benign
17	6703657	G	T	G6703657T	SLC13A5	NM_177550.4(SLC13A5):c.547+221C>A	noncoding	Benign
17	6703676	C	T	C6703676T	SLC13A5	NM_177550.4(SLC13A5):c.547+202G>A	noncoding	Benign
17	6703699	G	A	G6703699A	SLC13A5	NM_177550.4(SLC13A5):c.547+179C>T	noncoding	Benign
17	6703831	G	A	G6703831A	SLC13A5	NM_177550.4(SLC13A5):c.547+47C>T	noncoding	Benign
17	6703999	C	T	C6703999T	SLC13A5	NM_177550.4(SLC13A5):c.426G>A:p.Thr142=	coding	Benign/Likely_benign
17	6704000	G	A	G6704000A	SLC13A5	NM_177550.4(SLC13A5):c.425C>T:p.Thr142Met	coding	Pathogenic/Likely_pathogenic
17	6704070	G	A	G6704070A	SLC13A5	NM_177550.4(SLC13A5):c.369-14C>T	noncoding	Benign
17	6704116	G	A	G6704116A	SLC13A5	NM_177550.4(SLC13A5):c.369-60C>T	noncoding	Benign
17	6704204	G	A	G6704204A	SLC13A5	NM_177550.4(SLC13A5):c.369-148C>T	noncoding	Benign
17	6706702	C	T	C6706702T	SLC13A5	NM_177550.4(SLC13A5):c.308G>A:p.Trp103Ter	coding	Pathogenic
17	6707139	G	A	G6707139A	SLC13A5	NM_177550.4(SLC13A5):c.120C>T:p.Tyr40=	coding	Benign/Likely_benign
17	6713131	C	G	C6713131G	SLC13A5	NM_177550.4(SLC13A5):c.102+101G>C	noncoding	Benign
17	6713338	C	G	C6713338G	SLC13A5	NM_177550.4(SLC13A5):c.-5G>C	noncoding	Benign
17	6713350	T	G	T6713350G	SLC13A5	NM_177550.4(SLC13A5):c.-17A>C	noncoding	Benign
17	6780646	G	A	G6780646A	FBXO39	NM_153230.3(FBXO39):c.778G>A:p.Val260Ile	coding	Benign
17	6998976	G	A	G6998976A	ALOX12	NM_000697.3(ALOX12):c.566G>A:p.Arg189His	coding	Benign
17	7005898	G	A	G7005898A	ALOX12	NM_000697.3(ALOX12):c.1289G>A:p.Arg430His	coding	Benign
17	7075798	G	C	G7075798C	CLEC10A	NM_001330070.2(CLEC10A):c.527C>G:p.Ala176Gly	coding	Benign
17	7076012	A	G	A7076012G	CLEC10A	NM_001330070.2(CLEC10A):c.412T>C:p.Cys138Arg	coding	Benign
17	7101587	G	A	G7101587A	ASGR2	NM_080912.3(ASGR2):c.924C>T:p.Gly308=	coding	Benign
17	7101590	G	A	G7101590A	ASGR2	NM_080912.3(ASGR2):c.921C>T:p.Thr307=	coding	Benign
17	7193071	G	A	G7193071A	DLG4	NM_001321075.3(DLG4):c.1740C>T:p.Tyr580=	coding	Benign
17	7193712	G	A	G7193712A	DLG4	NM_001321075.3(DLG4):c.1546C>T:p.Arg516Ter	coding	Pathogenic
17	7193990	G	A	G7193990A	DLG4	NM_001365.4(DLG4):c.1618C>T:p.Arg540Ter	coding	Pathogenic
17	7196320	C	A	C7196320A	DLG4	NM_001321075.3(DLG4):c.1201G>T:p.Glu401Ter	coding	Pathogenic
17	7196539	G	A	G7196539A	DLG4	NM_001365.4(DLG4):c.1249C>T:p.Gln417Ter	coding	Pathogenic
17	7196557	G	A	G7196557A	DLG4	NM_001321075.3(DLG4):c.1102C>T:p.Arg368Ter	coding	Pathogenic
17	7203470	G	A	G7203470A	DLG4	NM_001321075.3(DLG4):c.459C>T:p.Pro153=	coding	Benign
17	7220021	C	T	C7220021T	ACADVL	NM_000018.4(ACADVL):c.37C>T:p.Gln13Ter	coding	Pathogenic
17	7220033	C	T	C7220033T	ACADVL	NM_000018.4(ACADVL):c.49C>T:p.Leu17Phe	coding	Benign
17	7220120	A	C	A7220120C	ACADVL	NM_000018.4(ACADVL):c.63-2A>C	coding	Pathogenic/Likely_pathogenic
17	7220124	C	A	C7220124A	ACADVL	NM_000018.4(ACADVL):c.65C>A:p.Ser22Ter	coding	Pathogenic
17	7220127	G	A	G7220127A	ACADVL	NM_000018.4(ACADVL):c.68G>A:p.Arg23Gln	coding	Benign/Likely_benign
17	7220187	G	A	G7220187A	ACADVL	NM_000018.4(ACADVL):c.128G>A:p.Gly43Asp	coding	Benign
17	7220198	G	A	G7220198A	ACADVL	NM_000018.4(ACADVL):c.138+1G>A	coding	Pathogenic/Likely_pathogenic
17	7220480	C	G	C7220480G	ACADVL	NM_000018.4(ACADVL):c.155C>G:p.Ser52Ter	coding	Pathogenic
17	7220519	C	T	C7220519T	ACADVL	NM_000018.4(ACADVL):c.194C>T:p.Pro65Leu	coding	Benign/Likely_benign
17	7220524	A	T	A7220524T	ACADVL	NM_000018.4(ACADVL):c.199A>T:p.Lys67Ter	coding	Pathogenic
17	7220678	T	G	T7220678G	ACADVL	NM_000018.4(ACADVL):c.277+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	7220765	G	A	G7220765A	ACADVL	NM_000018.4(ACADVL):c.278-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	7220796	A	G	A7220796G	ACADVL	NM_000018.4(ACADVL):c.308A>G:p.Lys103Arg	coding	Benign/Likely_benign
17	7220827	C	A	C7220827A	ACADVL	NM_000018.4(ACADVL):c.339C>A:p.Phe113Leu	coding	Pathogenic
17	7220831	G	C	G7220831C	ACADVL	NM_000018.4(ACADVL):c.342+1G>C	coding	Pathogenic
17	7220923	G	A	G7220923A	ACADVL	NM_000018.4(ACADVL):c.343-1G>A	noncoding	Pathogenic
17	7220924	G	T	G7220924T	ACADVL	NM_000018.4(ACADVL):c.343G>T:p.Glu115Ter	coding	Pathogenic
17	7220945	A	G	A7220945G	ACADVL	NM_000018.4(ACADVL):c.364A>G:p.Asn122Asp	coding	Pathogenic/Likely_pathogenic
17	7221014	C	T	C7221014T	ACADVL	NM_000018.4(ACADVL):c.433C>T:p.Gln145Ter	coding	Pathogenic/Likely_pathogenic
17	7221057	A	G	A7221057G	ACADVL	NM_000018.4(ACADVL):c.476A>G:p.Gln159Arg	coding	Pathogenic
17	7221540	C	G	C7221540G	ACADVL	NM_000018.4(ACADVL):c.480C>G:p.Tyr160Ter	coding	Pathogenic
17	7221575	T	C	T7221575C	ACADVL	NM_000018.4(ACADVL):c.515T>C:p.Leu172Pro	coding	Pathogenic
17	7221580	G	A	G7221580A	ACADVL	NM_000018.4(ACADVL):c.520G>A:p.Val174Met	coding	Pathogenic/Likely_pathogenic
17	7221613	G	A	G7221613A	ACADVL	NM_000018.4(ACADVL):c.553G>A:p.Gly185Ser	coding	Pathogenic/Likely_pathogenic
17	7221637	G	C	G7221637C	ACADVL	NM_000018.4(ACADVL):c.577G>C:p.Gly193Arg	coding	Pathogenic
17	7221662	A	G	A7221662G	ACADVL	NM_000018.4(ACADVL):c.602A>G:p.Tyr201Cys	coding	Pathogenic
17	7221663	C	G	C7221663G	ACADVL	NM_000018.4(ACADVL):c.603C>G:p.Tyr201Ter	coding	Pathogenic/Likely_pathogenic
17	7221694	C	A	C7221694A	ACADVL	NM_000018.4(ACADVL):c.622+12C>A	noncoding	Benign/Likely_benign
17	7221944	C	T	C7221944T	ACADVL	NM_000018.4(ACADVL):c.623-8C>T	noncoding	Benign
17	7221951	G	A	G7221951A	ACADVL	NM_000018.4(ACADVL):c.623-1G>A	noncoding	Pathogenic
17	7221965	C	T	C7221965T	ACADVL	NM_000018.4(ACADVL):c.636C>T:p.Ala212=	coding	Benign/Likely_benign
17	7221992	C	T	C7221992T	ACADVL	NM_000018.4(ACADVL):c.663C>T:p.Ser221=	coding	Benign/Likely_benign
17	7221993	G	A	G7221993A	ACADVL	NM_000018.4(ACADVL):c.664G>A:p.Gly222Arg	coding	Pathogenic/Likely_pathogenic
17	7221997	C	G	C7221997G	ACADVL	NM_000018.4(ACADVL):c.668C>G:p.Ser223Ter	coding	Pathogenic
17	7222014	C	T	C7222014T	ACADVL	NM_000018.4(ACADVL):c.685C>T:p.Arg229Ter	coding	Pathogenic/Likely_pathogenic
17	7222022	T	A	T7222022A	ACADVL	NM_000018.4(ACADVL):c.693T>A:p.Ser231=	coding	Benign/Likely_benign
17	7222075	G	A	G7222075A	ACADVL	NM_000018.4(ACADVL):c.746G>A:p.Trp249Ter	coding	Pathogenic
17	7222175	A	C	A7222175C	ACADVL	NM_000018.4(ACADVL):c.753-2A>C	noncoding	Pathogenic
17	7222175	A	G	A7222175G	ACADVL	NM_000018.4(ACADVL):c.753-2A>G	noncoding	Pathogenic
17	7222203	C	T	C7222203T	ACADVL	NM_000018.4(ACADVL):c.779C>T:p.Thr260Met	coding	Pathogenic/Likely_pathogenic
17	7222214	A	G	A7222214G	ACADVL	NM_000018.4(ACADVL):c.790A>G:p.Lys264Glu	coding	Pathogenic
17	7222272	T	C	T7222272C	ACADVL	NM_000018.4(ACADVL):c.848T>C:p.Val283Ala	coding	Pathogenic
17	7222289	G	A	G7222289A	ACADVL	NM_000018.4(ACADVL):c.865G>A:p.Gly289Arg	coding	Pathogenic/Likely_pathogenic
17	7222303	G	C	G7222303C	ACADVL	NM_000018.4(ACADVL):c.878+1G>C	coding	Pathogenic
17	7222617	G	T	G7222617T	ACADVL	NM_000018.4(ACADVL):c.879-50G>T	noncoding	Benign
17	7222659	T	A	T7222659A	ACADVL	NM_000018.4(ACADVL):c.879-8T>A	noncoding	Pathogenic
17	7222684	A	T	A7222684T	ACADVL	NM_000018.4(ACADVL):c.896A>T:p.Lys299Met	coding	Pathogenic
17	7222699	C	T	C7222699T	ACADVL	NM_000018.4(ACADVL):c.911C>T:p.Ala304Val	coding	Pathogenic
17	7222741	C	T	C7222741T	ACADVL	NM_000018.4(ACADVL):c.953C>T:p.Pro318Leu	coding	Pathogenic/Likely_pathogenic
17	7222826	G	A	G7222826A	ACADVL	NM_000018.4(ACADVL):c.1038G>A:p.Ala346=	coding	Benign
17	7222866	G	A	G7222866A	ACADVL	NM_000018.4(ACADVL):c.1077+1G>A	coding	Pathogenic/Likely_pathogenic
17	7222866	G	T	G7222866T	ACADVL	NM_000018.4(ACADVL):c.1077+1G>T	coding	Pathogenic/Likely_pathogenic
17	7222867	T	C	T7222867C	ACADVL	NM_000018.4(ACADVL):c.1077+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	7223152	G	A	G7223152A	ACADVL	NM_000018.4(ACADVL):c.1097G>A:p.Arg366His	coding	Pathogenic/Likely_pathogenic
17	7223199	A	C	A7223199C	ACADVL	NM_000018.4(ACADVL):c.1144A>C:p.Lys382Gln	coding	Pathogenic
17	7223228	T	A	T7223228A	ACADVL	NM_000018.4(ACADVL):c.1173T>A:p.Tyr391Ter	coding	Pathogenic
17	7223238	G	A	G7223238A	ACADVL	NM_000018.4(ACADVL):c.1182+1G>A	coding	Pathogenic/Likely_pathogenic
17	7223254	C	A	C7223254A	ACADVL	NM_000018.4(ACADVL):c.1182+17C>A	noncoding	Benign/Likely_benign
17	7223655	C	A	C7223655A	ACADVL	NM_000018.4(ACADVL):c.1194C>A:p.Tyr398Ter	coding	Pathogenic
17	7223681	G	C	G7223681C	ACADVL	NM_000018.4(ACADVL):c.1220G>C:p.Gly407Ala	coding	Pathogenic/Likely_pathogenic
17	7223707	G	A	G7223707A	ACADVL	NM_000018.4(ACADVL):c.1246G>A:p.Ala416Thr	coding	Pathogenic/Likely_pathogenic
17	7223731	G	A	G7223731A	ACADVL	NM_000018.4(ACADVL):c.1269+1G>A	coding	Pathogenic
17	7223837	G	T	G7223837T	ACADVL	NM_000018.4(ACADVL):c.1294G>T:p.Glu432Ter	coding	Pathogenic
17	7223852	A	G	A7223852G	ACADVL	NM_000018.4(ACADVL):c.1309A>G:p.Met437Val	coding	Pathogenic
17	7223865	G	A	G7223865A	ACADVL	NM_000018.4(ACADVL):c.1322G>A:p.Gly441Asp	coding	Pathogenic
17	7223984	G	A	G7223984A	ACADVL	NM_000018.4(ACADVL):c.1349G>A:p.Arg450His	coding	Pathogenic/Likely_pathogenic
17	7223992	C	T	C7223992T	ACADVL	NM_000018.4(ACADVL):c.1357C>T:p.Arg453Ter	coding	Pathogenic/Likely_pathogenic
17	7223993	G	A	G7223993A	ACADVL	NM_000018.4(ACADVL):c.1358G>A:p.Arg453Gln	coding	Pathogenic/Likely_pathogenic
17	7224007	T	C	T7224007C	ACADVL	NM_000018.4(ACADVL):c.1372T>C:p.Phe458Leu	coding	Pathogenic
17	7224011	G	A	G7224011A	ACADVL	NM_000018.4(ACADVL):c.1376G>A:p.Arg459Gln	coding	Pathogenic/Likely_pathogenic
17	7224040	C	T	C7224040T	ACADVL	NM_000018.4(ACADVL):c.1405C>T:p.Arg469Trp	coding	Pathogenic/Likely_pathogenic
17	7224041	G	A	G7224041A	ACADVL	NM_000018.4(ACADVL):c.1406G>A:p.Arg469Gln	coding	Pathogenic/Likely_pathogenic
17	7224179	G	C	G7224179C	ACADVL	NM_000018.4(ACADVL):c.1468G>C:p.Ala490Pro	coding	Pathogenic/Likely_pathogenic
17	7224244	G	A	G7224244A	ACADVL	NM_000018.4(ACADVL):c.1532+1G>A	coding	Pathogenic
17	7224245	T	C	T7224245C	ACADVL	NM_000018.4(ACADVL):c.1532+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	7224321	G	A	G7224321A	ACADVL	NM_000018.4(ACADVL):c.1533G>A:p.Arg511=	coding	Benign
17	7224395	T	A	T7224395A	ACADVL	NM_000018.4(ACADVL):c.1605+2T>A	noncoding	Pathogenic
17	7224395	T	C	T7224395C	ACADVL	NM_000018.4(ACADVL):c.1605+2T>C	noncoding	Pathogenic
17	7224399	T	C	T7224399C	ACADVL	NM_000018.4(ACADVL):c.1605+6T>C	noncoding	Benign
17	7224636	G	A	G7224636A	ACADVL	NM_000018.4(ACADVL):c.1679-6G>A	noncoding	Pathogenic/Likely_pathogenic
17	7224711	C	T	C7224711T	ACADVL	NM_000018.4(ACADVL):c.1748C>T:p.Ser583Leu	coding	Pathogenic/Likely_pathogenic
17	7224875	G	A	G7224875A	ACADVL	NM_000018.4(ACADVL):c.1818G>A:p.Trp606Ter	coding	Pathogenic
17	7224966	C	T	C7224966T	ACADVL	NM_000018.4(ACADVL):c.1837C>T:p.Arg613Trp	coding	Pathogenic/Likely_pathogenic
17	7224972	C	T	C7224972T	ACADVL	NM_000018.4(ACADVL):c.1843C>T:p.Arg615Ter	coding	Pathogenic
17	7225094	C	T	C7225094T	ACADVL	NM_000018.4(ACADVL):c.1965C>T:p.Phe655=	coding	Benign
17	7225096	G	C	G7225096C	ACADVL	NM_000018.4(ACADVL):c.1967G>C:p.Ter656Ser	coding	Pathogenic
17	7227523	C	T	C7227523T	DVL2	NM_004422.3(DVL2):c.1244G>A:p.Arg415Gln	coding	Benign
17	7228052	G	A	G7228052A	DVL2	NM_004422.3(DVL2):c.1035-8C>T	noncoding	Benign
17	7229141	A	G	A7229141G	DVL2	NM_004422.3(DVL2):c.951T>C:p.Leu317=	coding	Benign
17	7229843	G	A	G7229843A	DVL2	NM_004422.3(DVL2):c.621C>T:p.Ser207=	coding	Benign
17	7253002	A	C	A7253002C	ELP5	NM_015362.4(ELP5):c.236+4A>C	noncoding	Benign
17	7258637	G	A	G7258637A	ELP5	NM_015362.4(ELP5):c.689G>A:p.Gly230Glu	coding	Benign
17	7258827	T	C	T7258827C	ELP5	NM_015362.4(ELP5):c.737T>C:p.Val246Ala	coding	Benign
17	7284083	C	T	C7284083T	SLC2A4	NM_001042.3(SLC2A4):c.558C>T:p.Ile186=	coding	Benign
17	7314165	G	A	G7314165A	GPS2	NM_004489.5(GPS2):c.318-6C>T	noncoding	Benign
17	7314601	G	A	G7314601A	GPS2	NM_004489.5(GPS2):c.95-4C>T	noncoding	Benign
17	7317522	T	G	T7317522G	NEURL4	NM_032442.3(NEURL4):c.4257A>C:p.Ala1419=	coding	Benign
17	7317527	T	C	T7317527C	NEURL4	NM_032442.3(NEURL4):c.4252A>G:p.Met1418Val	coding	Benign
17	7319152	G	A	G7319152A	NEURL4	NM_032442.3(NEURL4):c.3582C>T:p.Ile1194=	coding	Benign
17	7322957	G	C	G7322957C	NEURL4	NM_032442.3(NEURL4):c.2584C>G:p.Pro862Ala	coding	Benign
17	7323993	T	C	T7323993C	NEURL4	NM_032442.3(NEURL4):c.2082A>G:p.Glu694=	coding	Benign
17	7324136	C	T	C7324136T	NEURL4	NM_032442.3(NEURL4):c.2034G>A:p.Ala678=	coding	Benign
17	7329094	C	T	C7329094T	NEURL4	NM_032442.3(NEURL4):c.219G>A:p.Gly73=	coding	Benign
17	7353006	G	A	G7353006A	KCTD11	NM_001002914.2(KCTD11):c.64G>A:p.Gly22Ser	coding	Benign
17	7384676	C	T	C7384676T	TNK1	NM_001251902.2(TNK1):c.1059C>T:p.Tyr353=	coding	Benign
17	7387020	T	C	T7387020C	TNK1	NM_001251902.2(TNK1):c.1278T>C:p.Asn426=	coding	Benign
17	7387056	G	A	G7387056A	TNK1	NM_001251902.2(TNK1):c.1314G>A:p.Ser438=	coding	Benign
17	7388624	G	C	G7388624C	TNK1	NM_001251902.2(TNK1):c.1711G>C:p.Gly571Arg	coding	Benign
17	7392914	G	A	G7392914A	PLSCR3	NM_020360.4(PLSCR3):c.546C>T:p.His182=	coding	Benign
17	7408483	G	A	G7408483A	NLGN2	NM_020795.4(NLGN2):c.228G>A:p.Thr76=	coding	Benign
17	7408721	G	A	G7408721A	NLGN2	NM_020795.4(NLGN2):c.457+9G>A	noncoding	Benign
17	7415506	C	T	C7415506T	NLGN2	NM_020795.4(NLGN2):c.1038-5C>T	noncoding	Benign
17	7416054	C	T	C7416054T	NLGN2	NM_020795.4(NLGN2):c.1581C>T:p.Asp527=	coding	Benign
17	7417181	G	A	G7417181A	NLGN2	NM_020795.4(NLGN2):c.1890G>A:p.Pro630=	coding	Benign
17	7417412	G	T	G7417412T	NLGN2	NM_020795.4(NLGN2):c.2121G>T:p.Leu707=	coding	Benign
17	7421228	G	A	G7421228A	SPEM1	NM_199339.3(SPEM1):c.553G>A:p.Val185Ile	coding	Benign
17	7442647	C	T	C7442647T	FGF11	NM_004112.4(FGF11):c.462C>T:p.Tyr154=	coding	Benign
17	7442722	C	T	C7442722T	FGF11	NM_004112.4(FGF11):c.537C>T:p.Gly179=	coding	Benign
17	7445128	A	G	A7445128G	CHRNB1	NM_000747.3(CHRNB1):c.1A>G:p.Met1Val	coding	Pathogenic
17	7445295	T	C	T7445295C	CHRNB1	NM_000747.3(CHRNB1):c.84T>C:p.Gly28=	coding	Benign/Likely_benign
17	7445306	A	G	A7445306G	CHRNB1	NM_000747.3(CHRNB1):c.95A>G:p.Glu32Gly	coding	Benign
17	7445445	G	T	G7445445T	CHRNB1	NM_000747.3(CHRNB1):c.198+36G>T	noncoding	Benign
17	7446837	G	A	G7446837A	CHRNB1	NM_000747.3(CHRNB1):c.248G>A:p.Trp83Ter	coding	Pathogenic
17	7447225	G	A	G7447225A	CHRNB1	NM_000747.3(CHRNB1):c.462+74G>A	noncoding	Benign
17	7447656	T	C	T7447656C	CHRNB1	NM_000747.3(CHRNB1):c.610+6T>C	noncoding	Benign
17	7448570	C	T	C7448570T	CHRNB1	NM_000747.3(CHRNB1):c.611-9C>T	noncoding	Benign/Likely_benign
17	7454288	C	T	C7454288T	CHRNB1	NM_000747.3(CHRNB1):c.821-9C>T	noncoding	Benign
17	7454329	C	A	C7454329A	CHRNB1	NM_000747.3(CHRNB1):c.853C>A:p.Leu285Met	coding	Pathogenic
17	7454341	G	A	G7454341A	CHRNB1	NM_000747.3(CHRNB1):c.865G>A:p.Val289Met	coding	Pathogenic
17	7454342	T	C	T7454342C	CHRNB1	NM_000747.3(CHRNB1):c.866T>C:p.Val289Ala	coding	Pathogenic
17	7454545	C	A	C7454545A	CHRNB1	NM_000747.3(CHRNB1):c.1044+25C>A	noncoding	Benign
17	7455278	C	G	C7455278G	CHRNB1	NM_000747.3(CHRNB1):c.1045-6C>G	noncoding	Benign/Likely_benign
17	7455465	A	G	A7455465G	CHRNB1	NM_000747.3(CHRNB1):c.1217+9A>G	noncoding	Benign/Likely_benign
17	7455466	C	G	C7455466G	CHRNB1	NM_000747.3(CHRNB1):c.1217+10C>G	noncoding	Benign
17	7455484	G	A	G7455484A	CHRNB1	NM_000747.3(CHRNB1):c.1217+28G>A	noncoding	Benign
17	7455542	T	C	T7455542C	CHRNB1	NM_000747.3(CHRNB1):c.1217+86T>C	noncoding	Benign
17	7455611	G	A	G7455611A	CHRNB1	NM_000747.3(CHRNB1):c.1217+155G>A	noncoding	Benign
17	7455835	T	C	T7455835C	CHRNB1	NM_000747.3(CHRNB1):c.1259T>C:p.Ile420Thr	coding	Benign
17	7455935	C	T	C7455935T	CHRNB1	NM_000747.3(CHRNB1):c.1359C>T:p.His453=	coding	Benign/Likely_benign
17	7455958	T	C	T7455958C	CHRNB1	NM_000747.3(CHRNB1):c.1365+17T>C	noncoding	Benign
17	7456611	T	C	T7456611C	CHRNB1	NM_000747.3(CHRNB1):c.1394T>C:p.Met465Thr	coding	Benign/Likely_benign
17	7456791	T	C	T7456791C	CHRNB1	NM_000747.3(CHRNB1):c.*68T>C	noncoding	Benign
17	7457004	T	C	T7457004C	CHRNB1	NM_000747.3(CHRNB1):c.*281T>C	noncoding	Benign
17	7457010	C	T	C7457010T	CHRNB1	NM_000747.3(CHRNB1):c.*287C>T	noncoding	Benign
17	7457478	A	C	A7457478C	CHRNB1	NM_000747.3(CHRNB1):c.*755A>C	noncoding	Benign
17	7462072	G	A	G7462072A	ZBTB4	NM_001128833.2(ZBTB4):c.2910C>T:p.Tyr970=	coding	Benign
17	7462265	C	T	C7462265T	ZBTB4	NM_001128833.2(ZBTB4):c.2717G>A:p.Arg906Gln	coding	Benign
17	7462798	G	A	G7462798A	ZBTB4	NM_001128833.2(ZBTB4):c.2184C>T:p.Cys728=	coding	Benign
17	7462847	G	A	G7462847A	ZBTB4	NM_001128833.2(ZBTB4):c.2135C>T:p.Ala712Val	coding	Benign
17	7463366	G	A	G7463366A	ZBTB4	NM_001128833.2(ZBTB4):c.1616C>T:p.Ala539Val	coding	Benign
17	7463761	G	A	G7463761A	ZBTB4	NM_001128833.2(ZBTB4):c.1221C>T:p.Pro407=	coding	Benign
17	7463845	G	A	G7463845A	ZBTB4	NM_001128833.2(ZBTB4):c.1137C>T:p.Asn379=	coding	Benign
17	7465869	G	A	G7465869A	ZBTB4	NM_001128833.2(ZBTB4):c.933C>T:p.Cys311=	coding	Benign
17	7466643	G	A	G7466643A	ZBTB4	NM_001128833.2(ZBTB4):c.159C>T:p.Pro53=	coding	Benign
17	7499073	T	C	T7499073C	POLR2A	NM_000937.5(POLR2A):c.1370T>C:p.Ile457Thr	coding	Pathogenic
17	7501336	C	T	C7501336T	POLR2A	NM_000937.5(POLR2A):c.2098C>T:p.Gln700Ter	coding	Pathogenic
17	7501583	C	T	C7501583T	POLR2A	NM_000937.5(POLR2A):c.2203C>T:p.Gln735Ter	coding	Pathogenic
17	7501587	C	T	C7501587T	POLR2A	NM_000937.5(POLR2A):c.2207C>T:p.Thr736Met	coding	Pathogenic
17	7508381	T	C	T7508381C	POLR2A	NM_000937.5(POLR2A):c.3371T>C:p.Leu1124Pro	coding	Pathogenic
17	7511549	C	T	C7511549T	POLR2A	NM_000937.5(POLR2A):c.4062C>T:p.Pro1354=	coding	Benign
17	7511961	G	A	G7511961A	POLR2A	NM_000937.5(POLR2A):c.4252G>A:p.Gly1418Arg	coding	Pathogenic
17	7550934	A	G	A7550934G	TNFSF12	NM_003809.3(TNFSF12):c.338-9A>G	noncoding	Benign
17	7556833	T	G	T7556833G	TNFSF12	NM_003809.3(TNFSF12):c.429T>G:p.Pro143=	coding	Benign
17	7557197	G	A	G7557197A	TNFSF12	NM_003809.3(TNFSF12):c.597G>A:p.Ala199=	coding	Benign
17	7557200	G	C	G7557200C	TNFSF12	NM_003809.3(TNFSF12):c.600G>C:p.Ala200=	coding	Benign
17	7557209	C	T	C7557209T	TNFSF12	NM_003809.3(TNFSF12):c.609C>T:p.Leu203=	coding	Benign
17	7557242	G	T	G7557242T	TNFSF12	NM_003809.3(TNFSF12):c.642G>T:p.Gly214=	coding	Benign
17	7559617	T	C	T7559617C	TNFSF13	NM_003808.3(TNFSF13):c.259-7T>C	noncoding	Benign
17	7579814	G	A	G7579814A	CD68	NM_001251.3(CD68):c.54G>A:p.Gln18=	coding	Benign
17	7579882	C	T	C7579882T	CD68	NM_001251.3(CD68):c.122C>T:p.Thr41Met	coding	Benign
17	7581432	T	C	T7581432C	CD68	NM_001251.3(CD68):c.986T>C:p.Ile329Thr	coding	Benign
17	7583864	T	C	T7583864C	MPDU1	NM_004870.4(MPDU1):c.2T>C:p.Met1Thr	coding	Pathogenic
17	7585997	T	C	T7585997C	MPDU1	NM_004870.4(MPDU1):c.221T>C:p.Leu74Ser	coding	Pathogenic
17	7586745	T	C	T7586745C	MPDU1	NM_004870.4(MPDU1):c.356T>C:p.Leu119Pro	coding	Pathogenic
17	7586913	G	C	G7586913C	MPDU1	NM_004870.4(MPDU1):c.403G>C:p.Ala135Pro	coding	Benign
17	7587061	G	C	G7587061C	MPDU1	NM_004870.4(MPDU1):c.507+44G>C	noncoding	Benign
17	7587459	G	T	G7587459T	MPDU1	NM_004870.4(MPDU1):c.652G>T:p.Val218Leu	coding	Benign/Likely_benign
17	7587480	G	A	G7587480A	MPDU1	NM_004870.4(MPDU1):c.673G>A:p.Gly225Ser	coding	Benign
17	7587492	G	A	G7587492A	MPDU1	NM_004870.4(MPDU1):c.685G>A:p.Ala229Thr	coding	Benign
17	7587859	G	T	G7587859T	MPDU1	NM_004870.4(MPDU1):c.*308G>T	noncoding	Benign
17	7593093	G	A	G7593093A	FXR2	NM_004860.4(FXR2):c.1419C>T:p.Pro473=	coding	Benign
17	7630246	G	A	G7630246A	SHBG	NM_001040.5(SHBG):c.74G>A:p.Arg25His	coding	Benign
17	7630424	C	T	C7630424T	SHBG	NM_001040.5(SHBG):c.120C>T:p.His40=	coding	Benign
17	7631341	G	C	G7631341C	SHBG	NM_001040.5(SHBG):c.535G>C:p.Ala179Pro	coding	Benign
17	7632841	G	A	G7632841A	SHBG	NM_001040.5(SHBG):c.942G>A:p.Arg314=	coding	Benign
17	7667908	C	A	C7667908A	TP53	NM_000546.5(TP53):c.*1701G>T	noncoding	Benign
17	7667910	C	A	C7667910A	TP53	NC_000017.11:g.7667910C>A	noncoding	Benign
17	7668996	G	T	G7668996T	TP53	NM_000546.5(TP53):c.*613C>A	noncoding	Benign
17	7669124	C	T	C7669124T	TP53	NM_000546.5(TP53):c.*485G>A	noncoding	Benign
17	7669281	C	T	C7669281T	TP53	NM_000546.6(TP53):c.*328G>A	noncoding	Benign
17	7669404	C	T	C7669404T	TP53	NM_000546.5(TP53):c.*205G>A	noncoding	Benign
17	7669692	T	C	T7669692C	TP53	NM_000546.5(TP53):c.1101-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	7670579	T	A	T7670579A	TP53	NM_000546.5(TP53):c.1100+30A>T	noncoding	Benign
17	7670664	C	A	C7670664A	TP53	NM_000546.5(TP53):c.1045G>T:p.Glu349Ter	coding	Pathogenic
17	7670673	C	A	C7670673A	TP53	NM_000546.5(TP53):c.1036G>T:p.Glu346Ter	coding	Pathogenic
17	7670684	C	G	C7670684G	TP53	NM_000546.5(TP53):c.1025G>C:p.Arg342Pro	coding	Pathogenic/Likely_pathogenic
17	7670685	G	A	G7670685A	TP53	NM_000546.5(TP53):c.1024C>T:p.Arg342Ter	coding	Pathogenic
17	7670694	C	A	C7670694A	TP53	NM_000546.5(TP53):c.1015G>T:p.Glu339Ter	coding	Pathogenic
17	7670695	G	A	G7670695A	TP53	NM_000546.5(TP53):c.1014C>T:p.Phe338=	coding	Benign/Likely_benign
17	7670699	C	T	C7670699T	TP53	NM_000546.6(TP53):c.1010G>A:p.Arg337His	coding	Pathogenic
17	7670700	G	A	G7670700A	TP53	NM_000546.5(TP53):c.1009C>T:p.Arg337Cys	coding	Pathogenic/Likely_pathogenic
17	7670716	C	G	C7670716G	TP53	NM_000546.5(TP53):c.994-1G>C	coding	Pathogenic
17	7670716	C	T	C7670716T	TP53	NM_000546.5(TP53):c.994-1G>A	coding	Pathogenic
17	7670732	G	A	G7670732A	TP53	NM_000546.5(TP53):c.994-17C>T	noncoding	Benign/Likely_benign
17	7673312	A	C	A7673312C	TP53	NM_000546.5(TP53):c.993+223T>G	coding	Benign/Likely_benign
17	7673523	A	G	A7673523G	TP53	NM_000546.5(TP53):c.993+12T>C	noncoding	Benign/Likely_benign
17	7673534	C	A	C7673534A	TP53	NM_000546.5(TP53):c.993+1G>T	noncoding	Pathogenic
17	7673534	C	G	C7673534G	TP53	NM_000546.5(TP53):c.993+1G>C	noncoding	Pathogenic
17	7673534	C	T	C7673534T	TP53	NM_000546.5(TP53):c.993+1G>A	noncoding	Pathogenic
17	7673537	G	A	G7673537A	TP53	NM_000546.6(TP53):c.991C>T:p.Gln331Ter	coding	Pathogenic
17	7673552	C	A	C7673552A	TP53	NM_000546.5(TP53):c.976G>T:p.Glu326Ter	coding	Pathogenic
17	7673555	C	A	C7673555A	TP53	NM_000546.5(TP53):c.973G>T:p.Gly325Ter	coding	Pathogenic
17	7673567	T	A	T7673567A	TP53	NM_000546.6(TP53):c.961A>T:p.Lys321Ter	coding	Pathogenic
17	7673579	G	A	G7673579A	TP53	NM_000546.6(TP53):c.949C>T:p.Gln317Ter	coding	Pathogenic/Likely_pathogenic
17	7673593	G	C	G7673593C	TP53	NM_000546.6(TP53):c.935C>G:p.Thr312Ser	coding	Benign
17	7673609	C	A	C7673609A	TP53	NM_000546.5(TP53):c.920-1G>T	coding	Pathogenic
17	7673609	C	T	C7673609T	TP53	NM_000546.5(TP53):c.920-1G>A	coding	Pathogenic/Likely_pathogenic
17	7673610	T	C	T7673610C	TP53	NM_000546.6(TP53):c.920-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	7673699	A	C	A7673699C	TP53	NM_000546.5(TP53):c.919+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	7673699	A	T	A7673699T	TP53	NM_000546.5(TP53):c.919+2T>A	noncoding	Pathogenic
17	7673704	G	A	G7673704A	TP53	NM_000546.5(TP53):c.916C>T:p.Arg306Ter	coding	Pathogenic
17	7673707	T	A	T7673707A	TP53	NM_000546.6(TP53):c.913A>T:p.Lys305Ter	coding	Pathogenic
17	7673717	T	C	T7673717C	TP53	NM_000546.6(TP53):c.903A>G:p.Pro301=	coding	Benign/Likely_benign
17	7673728	C	A	C7673728A	TP53	NM_000546.5(TP53):c.892G>T:p.Glu298Ter	coding	Pathogenic
17	7673735	A	G	A7673735G	TP53	NM_000546.6(TP53):c.885T>C:p.Pro295=	coding	Benign/Likely_benign
17	7673740	C	A	C7673740A	TP53	NM_000546.5(TP53):c.880G>T:p.Glu294Ter	coding	Pathogenic
17	7673745	T	A	T7673745A	TP53	NM_000546.5(TP53):c.875A>T:p.Lys292Ile	coding	Pathogenic
17	7673751	C	T	C7673751T	TP53	NM_000546.6(TP53):c.869G>A:p.Arg290His	coding	Benign
17	7673764	C	A	C7673764A	TP53	NM_000546.5(TP53):c.856G>T:p.Glu286Ter	coding	Pathogenic
17	7673764	C	T	C7673764T	TP53	NM_000546.5(TP53):c.856G>A:p.Glu286Lys	coding	Pathogenic
17	7673766	T	A	T7673766A	TP53	NM_000546.5(TP53):c.854A>T:p.Glu285Val	coding	Pathogenic
17	7673767	C	T	C7673767T	TP53	NM_000546.5(TP53):c.853G>A:p.Glu285Lys	coding	Pathogenic/Likely_pathogenic
17	7673775	C	G	C7673775G	TP53	NM_000546.6(TP53):c.845G>C:p.Arg282Pro	coding	Pathogenic/Likely_pathogenic
17	7673776	G	A	G7673776A	TP53	NM_000546.6(TP53):c.844C>T:p.Arg282Trp	coding	Pathogenic/Likely_pathogenic
17	7673776	G	C	G7673776C	TP53	NM_000546.5(TP53):c.844C>G:p.Arg282Gly	coding	Pathogenic
17	7673778	T	A	T7673778A	TP53	NM_000546.5(TP53):c.842A>T:p.Asp281Val	coding	Pathogenic/Likely_pathogenic
17	7673778	T	C	T7673778C	TP53	NM_000546.5(TP53):c.842A>G:p.Asp281Gly	coding	Pathogenic
17	7673779	C	A	C7673779A	TP53	NM_000546.5(TP53):c.841G>T:p.Asp281Tyr	coding	Pathogenic
17	7673779	C	T	C7673779T	TP53	NM_000546.5(TP53):c.841G>A:p.Asp281Asn	coding	Pathogenic
17	7673784	C	T	C7673784T	TP53	NM_000546.5(TP53):c.836G>A:p.Gly279Glu	coding	Pathogenic/Likely_pathogenic
17	7673789	A	T	A7673789T	TP53	NM_000546.5(TP53):c.831T>A:p.Cys277Ter	coding	Pathogenic
17	7673793	G	C	G7673793C	TP53	NM_000546.5(TP53):c.827C>G:p.Ala276Gly	coding	Pathogenic
17	7673796	C	T	C7673796T	TP53	NM_000546.5(TP53):c.824G>A:p.Cys275Tyr	coding	Pathogenic/Likely_pathogenic
17	7673800	C	A	C7673800A	TP53	NM_000546.6(TP53):c.820G>T	coding	Pathogenic/Likely_pathogenic
17	7673802	C	A	C7673802A	TP53	NM_000546.5(TP53):c.818G>T:p.Arg273Leu	coding	Pathogenic
17	7673802	C	G	C7673802G	TP53	NM_000546.5(TP53):c.818G>C:p.Arg273Pro	coding	Pathogenic/Likely_pathogenic
17	7673802	C	T	C7673802T	TP53	NM_000546.6(TP53):c.818G>A:p.Arg273His	coding	Pathogenic
17	7673803	G	A	G7673803A	TP53	NM_000546.6(TP53):c.817C>T:p.Arg273Cys	coding	Pathogenic/Likely_pathogenic
17	7673803	G	C	G7673803C	TP53	NM_000546.5(TP53):c.817C>G:p.Arg273Gly	coding	Pathogenic
17	7673803	G	T	G7673803T	TP53	NM_000546.5(TP53):c.817C>A:p.Arg273Ser	coding	Pathogenic/Likely_pathogenic
17	7673811	A	G	A7673811G	TP53	NM_000546.5(TP53):c.809T>C:p.Phe270Ser	coding	Pathogenic/Likely_pathogenic
17	7673821	G	A	G7673821A	TP53	NM_000546.5(TP53):c.799C>T:p.Arg267Trp	coding	Pathogenic/Likely_pathogenic
17	7673824	C	A	C7673824A	TP53	NM_000546.6(TP53):c.796G>T:p.Gly266Ter	coding	Pathogenic
17	7673826	A	G	A7673826G	TP53	NM_000546.5(TP53):c.794T>C:p.Leu265Pro	coding	Pathogenic/Likely_pathogenic
17	7673838	C	T	C7673838T	TP53	NM_000546.5(TP53):c.783-1G>A	coding	Pathogenic
17	7673839	T	G	T7673839G	TP53	NM_000546.5(TP53):c.783-2A>C	noncoding	Pathogenic
17	7674164	G	A	G7674164A	TP53	NM_000546.5(TP53):c.782+17C>T	noncoding	Benign/Likely_benign
17	7674171	G	A	G7674171A	TP53	NM_000546.5(TP53):c.782+10C>T	noncoding	Benign/Likely_benign
17	7674180	C	T	C7674180T	TP53	NM_000546.5(TP53):c.782+1G>A	noncoding	Pathogenic
17	7674191	C	A	C7674191A	TP53	NM_000546.5(TP53):c.772G>T:p.Glu258Ter	coding	Pathogenic
17	7674191	C	T	C7674191T	TP53	NM_000546.5(TP53):c.772G>A:p.Glu258Lys	coding	Pathogenic/Likely_pathogenic
17	7674202	A	T	A7674202T	TP53	NM_000546.6(TP53):c.761T>A:p.Ile254Asn	coding	Pathogenic
17	7674212	T	G	T7674212G	TP53	NM_000546.5(TP53):c.751A>C:p.Ile251Leu	coding	Pathogenic/Likely_pathogenic
17	7674220	C	A	C7674220A	TP53	NM_000546.5(TP53):c.743G>T:p.Arg248Leu	coding	Pathogenic
17	7674220	C	G	C7674220G	TP53	NM_000546.5(TP53):c.743G>C:p.Arg248Pro	coding	Pathogenic
17	7674220	C	T	C7674220T	TP53	NM_000546.6(TP53):c.743G>A:p.Arg248Gln	coding	Pathogenic
17	7674221	G	A	G7674221A	TP53	NM_000546.6(TP53):c.742C>T:p.Arg248Trp	coding	Pathogenic
17	7674226	A	C	A7674226C	TP53	NM_000546.5(TP53):c.737T>G:p.Met246Arg	coding	Pathogenic
17	7674227	T	C	T7674227C	TP53	NM_000546.5(TP53):c.736A>G:p.Met246Val	coding	Pathogenic
17	7674229	C	A	C7674229A	TP53	NM_000546.5(TP53):c.734G>T:p.Gly245Val	coding	Pathogenic/Likely_pathogenic
17	7674229	C	T	C7674229T	TP53	NM_000546.5(TP53):c.734G>A:p.Gly245Asp	coding	Pathogenic/Likely_pathogenic
17	7674230	C	A	C7674230A	TP53	NM_000546.5(TP53):c.733G>T:p.Gly245Cys	coding	Pathogenic
17	7674230	C	T	C7674230T	TP53	NM_000546.6(TP53):c.733G>A:p.Gly245Ser	coding	Pathogenic
17	7674232	C	T	C7674232T	TP53	NM_000546.5(TP53):c.731G>A:p.Gly244Asp	coding	Pathogenic/Likely_pathogenic
17	7674233	C	T	C7674233T	TP53	NM_000546.5(TP53):c.730G>A:p.Gly244Ser	coding	Pathogenic
17	7674238	C	T	C7674238T	TP53	NM_000546.5(TP53):c.725G>A:p.Cys242Tyr	coding	Pathogenic
17	7674239	A	G	A7674239G	TP53	NM_000546.5(TP53):c.724T>C:p.Cys242Arg	coding	Pathogenic
17	7674241	G	T	G7674241T	TP53	NM_000546.5(TP53):c.722C>A:p.Ser241Tyr	coding	Pathogenic
17	7674249	A	C	A7674249C	TP53	NM_000546.5(TP53):c.714T>G:p.Cys238Trp	coding	Pathogenic
17	7674250	C	A	C7674250A	TP53	NM_000546.5(TP53):c.713G>T:p.Cys238Phe	coding	Pathogenic
17	7674250	C	G	C7674250G	TP53	NM_000546.5(TP53):c.713G>C:p.Cys238Ser	coding	Pathogenic
17	7674250	C	T	C7674250T	TP53	NM_000546.5(TP53):c.713G>A:p.Cys238Tyr	coding	Pathogenic/Likely_pathogenic
17	7674251	A	G	A7674251G	TP53	NM_000546.5(TP53):c.712T>C:p.Cys238Arg	coding	Pathogenic
17	7674251	A	T	A7674251T	TP53	NM_000546.5(TP53):c.712T>A:p.Cys238Ser	coding	Pathogenic
17	7674259	T	C	T7674259C	TP53	NM_000546.5(TP53):c.704A>G:p.Asn235Ser	coding	Benign
17	7674262	T	C	T7674262C	TP53	NM_000546.5(TP53):c.701A>G:p.Tyr234Cys	coding	Pathogenic/Likely_pathogenic
17	7674263	A	G	A7674263G	TP53	NM_000546.5(TP53):c.700T>C:p.Tyr234His	coding	Pathogenic/Likely_pathogenic
17	7674291	C	A	C7674291A	TP53	NM_000546.5(TP53):c.673-1G>T	coding	Pathogenic
17	7674291	C	T	C7674291T	TP53	NM_000546.5(TP53):c.673-1G>A	coding	Pathogenic
17	7674292	T	C	T7674292C	TP53	NM_000546.5(TP53):c.673-2A>G	noncoding	Pathogenic
17	7674326	C	G	C7674326G	TP53	NM_000546.5(TP53):c.673-36G>C	noncoding	Benign
17	7674797	T	C	T7674797C	TP53	NM_000546.5(TP53):c.672+62A>G	noncoding	Benign
17	7674828	T	C	T7674828C	TP53	NM_000546.5(TP53):c.672+31A>G	noncoding	Benign
17	7674841	C	G	C7674841G	TP53	NM_000546.5(TP53):c.672+18G>C	noncoding	Benign/Likely_benign
17	7674858	C	T	C7674858T	TP53	NM_000546.5(TP53):c.672+1G>A	noncoding	Pathogenic
17	7674859	C	T	C7674859T	TP53	NM_000546.6(TP53):c.672G>A:p.Glu224=	coding	Pathogenic/Likely_pathogenic
17	7674865	C	A	C7674865A	TP53	NM_000546.5(TP53):c.666G>T:p.Pro222=	coding	Benign/Likely_benign
17	7674870	C	A	C7674870A	TP53	NM_000546.5(TP53):c.661G>T:p.Glu221Ter	coding	Pathogenic
17	7674871	A	T	A7674871T	TP53	NM_000546.5(TP53):c.660T>A:p.Tyr220Ter	coding	Pathogenic
17	7674872	T	C	T7674872C	TP53	NM_000546.6(TP53):c.659A>G:p.Tyr220Cys	coding	Pathogenic
17	7674872	T	G	T7674872G	TP53	NM_000546.5(TP53):c.659A>C:p.Tyr220Ser	coding	Pathogenic
17	7674879	C	T	C7674879T	TP53	NM_000546.5(TP53):c.652G>A:p.Val218Met	coding	Pathogenic
17	7674887	C	A	C7674887A	TP53	NM_000546.5(TP53):c.644G>T:p.Ser215Ile	coding	Pathogenic
17	7674892	T	C	T7674892C	TP53	NM_000546.6(TP53):c.639A>G:p.Arg213=	coding	Benign
17	7674893	C	G	C7674893G	TP53	NM_000546.5(TP53):c.638G>C:p.Arg213Pro	coding	Pathogenic/Likely_pathogenic
17	7674893	C	T	C7674893T	TP53	NM_000546.6(TP53):c.638G>A:p.Arg213Gln	coding	Pathogenic
17	7674894	G	A	G7674894A	TP53	NM_000546.6(TP53):c.637C>T:p.Arg213Ter	coding	Pathogenic
17	7674916	A	C	A7674916C	TP53	NM_000546.6(TP53):c.615T>G:p.Tyr205Ter	coding	Pathogenic
17	7674916	A	T	A7674916T	TP53	NM_000546.5(TP53):c.615T>A:p.Tyr205Ter	coding	Pathogenic
17	7674921	C	A	C7674921A	TP53	NM_000546.6(TP53):c.610G>T:p.Glu204Ter	coding	Pathogenic
17	7674936	C	A	C7674936A	TP53	NM_000546.5(TP53):c.595G>T:p.Gly199Ter	coding	Pathogenic
17	7674939	C	A	C7674939A	TP53	NM_000546.5(TP53):c.592G>T:p.Glu198Ter	coding	Pathogenic
17	7674945	G	A	G7674945A	TP53	NM_000546.6(TP53):c.586C>T:p.Arg196Ter	coding	Pathogenic
17	7674947	A	G	A7674947G	TP53	NM_000546.5(TP53):c.584T>C:p.Ile195Thr	coding	Pathogenic/Likely_pathogenic
17	7674949	A	G	A7674949G	TP53	NM_000546.5(TP53):c.582T>C:p.Leu194=	coding	Benign/Likely_benign
17	7674953	T	G	T7674953G	TP53	NM_000546.5(TP53):c.578A>C:p.His193Pro	coding	Pathogenic
17	7674957	G	A	G7674957A	TP53	NM_000546.5(TP53):c.574C>T:p.Gln192Ter	coding	Pathogenic
17	7674972	C	G	C7674972G	TP53	NM_000546.5(TP53):c.560-1G>C	coding	Pathogenic/Likely_pathogenic
17	7674972	C	T	C7674972T	TP53	NM_000546.5(TP53):c.560-1G>A	coding	Pathogenic
17	7674979	C	G	C7674979G	TP53	NM_000546.5(TP53):c.560-8G>C	noncoding	Benign/Likely_benign
17	7675029	G	A	G7675029A	TP53	NM_000546.5(TP53):c.559+24C>T	noncoding	Benign
17	7675052	C	T	C7675052T	TP53	NM_000546.5(TP53):c.559+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	7675064	G	C	G7675064C	TP53	NM_000546.5(TP53):c.548C>G:p.Ser183Ter	coding	Pathogenic
17	7675070	C	G	C7675070G	TP53	NM_000546.6(TP53):c.542G>C:p.Arg181Pro	coding	Pathogenic/Likely_pathogenic
17	7675070	C	T	C7675070T	TP53	NM_000546.6(TP53):c.542G>A:p.Arg181His	coding	Pathogenic/Likely_pathogenic
17	7675074	C	A	C7675074A	TP53	NM_000546.5(TP53):c.538G>T:p.Glu180Ter	coding	Pathogenic
17	7675075	A	C	A7675075C	TP53	NM_000546.5(TP53):c.537T>G:p.His179Gln	coding	Pathogenic
17	7675075	A	T	A7675075T	TP53	NM_000546.5(TP53):c.537T>A:p.His179Gln	coding	Pathogenic
17	7675077	G	A	G7675077A	TP53	NM_000546.5(TP53):c.535C>T:p.His179Tyr	coding	Pathogenic/Likely_pathogenic
17	7675085	C	T	C7675085T	TP53	NM_000546.5(TP53):c.527G>A:p.Cys176Tyr	coding	Pathogenic/Likely_pathogenic
17	7675088	C	T	C7675088T	TP53	NM_000546.6(TP53):c.524G>A:p.Arg175His	coding	Pathogenic
17	7675089	G	C	G7675089C	TP53	NM_000546.5(TP53):c.523C>G:p.Arg175Gly	coding	Pathogenic
17	7675094	A	G	A7675094G	TP53	NM_000546.5(TP53):c.518T>C:p.Val173Ala	coding	Pathogenic/Likely_pathogenic
17	7675095	C	A	C7675095A	TP53	NM_000546.5(TP53):c.517G>T:p.Val173Leu	coding	Pathogenic
17	7675095	C	T	C7675095T	TP53	NM_000546.5(TP53):c.517G>A:p.Val173Met	coding	Pathogenic
17	7675101	C	A	C7675101A	TP53	NM_000546.5(TP53):c.511G>T:p.Glu171Ter	coding	Pathogenic
17	7675102	C	T	C7675102T	TP53	NM_000546.5(TP53):c.510G>A:p.Thr170=	coding	Benign/Likely_benign
17	7675113	G	A	G7675113A	TP53	NM_000546.5(TP53):c.499C>T:p.Gln167Ter	coding	Pathogenic/Likely_pathogenic
17	7675115	G	C	G7675115C	TP53	NM_000546.5(TP53):c.497C>G:p.Ser166Ter	coding	Pathogenic
17	7675119	G	A	G7675119A	TP53	NM_000546.5(TP53):c.493C>T:p.Gln165Ter	coding	Pathogenic
17	7675122	T	A	T7675122A	TP53	NM_000546.6(TP53):c.490A>T:p.Lys164Ter	coding	Pathogenic
17	7675123	G	C	G7675123C	TP53	NM_000546.5(TP53):c.489C>G:p.Tyr163Ter	coding	Pathogenic
17	7675124	T	C	T7675124C	TP53	NM_000546.5(TP53):c.488A>G:p.Tyr163Cys	coding	Pathogenic
17	7675138	G	A	G7675138A	TP53	NM_000546.5(TP53):c.474C>T:p.Arg158=	coding	Benign/Likely_benign
17	7675139	C	A	C7675139A	TP53	NM_000546.5(TP53):c.473G>T:p.Arg158Leu	coding	Pathogenic
17	7675139	C	T	C7675139T	TP53	NM_000546.6(TP53):c.473G>A:p.Arg158His	coding	Pathogenic/Likely_pathogenic
17	7675140	G	C	G7675140C	TP53	NM_000546.6(TP53):c.472C>G:p.Arg158Gly	coding	Pathogenic
17	7675153	G	A	G7675153A	TP53	NM_000546.5(TP53):c.459C>T:p.Pro153=	coding	Benign/Likely_benign
17	7675157	G	A	G7675157A	TP53	NM_000546.6(TP53):c.455C>T:p.Pro152Leu	coding	Pathogenic
17	7675161	G	A	G7675161A	TP53	NM_000546.6(TP53):c.451C>T:p.Pro151Ser	coding	Pathogenic/Likely_pathogenic
17	7675174	C	T	C7675174T	TP53	NM_000546.5(TP53):c.438G>A:p.Trp146Ter	coding	Pathogenic
17	7675175	C	T	C7675175T	TP53	NM_000546.5(TP53):c.437G>A:p.Trp146Ter	coding	Pathogenic
17	7675182	G	A	G7675182A	TP53	NM_000546.5(TP53):c.430C>T:p.Gln144Ter	coding	Pathogenic
17	7675190	C	T	C7675190T	TP53	NM_000546.5(TP53):c.422G>A:p.Cys141Tyr	coding	Pathogenic
17	7675197	T	A	T7675197A	TP53	NM_000546.5(TP53):c.415A>T:p.Lys139Ter	coding	Pathogenic
17	7675210	A	T	A7675210T	TP53	NM_000546.6(TP53):c.402T>A:p.Phe134Leu	coding	Pathogenic
17	7675214	A	G	A7675214G	TP53	NM_000546.5(TP53):c.398T>C:p.Met133Thr	coding	Pathogenic
17	7675221	T	A	T7675221A	TP53	NM_000546.5(TP53):c.391A>T:p.Asn131Tyr	coding	Pathogenic
17	7675223	A	G	A7675223G	TP53	NM_000546.5(TP53):c.389T>C:p.Leu130Pro	coding	Pathogenic
17	7675237	C	T	C7675237T	TP53	NM_000546.5(TP53):c.376-1G>A	coding	Pathogenic/Likely_pathogenic
17	7675253	G	A	G7675253A	TP53	NM_000546.5(TP53):c.376-17C>T	coding	Benign/Likely_benign
17	7675327	C	T	C7675327T	TP53	NM_000546.5(TP53):c.376-91G>A	coding	Benign
17	7675519	A	G	A7675519G	TP53	NM_000546.5(TP53):c.376-283T>C	noncoding	Benign
17	7675992	A	T	A7675992T	TP53	NM_000546.5(TP53):c.375+2T>A	noncoding	Pathogenic/Likely_pathogenic
17	7675993	C	A	C7675993A	TP53	NM_000546.5(TP53):c.375+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	7675994	C	T	C7675994T	TP53	NM_000546.6(TP53):c.375G>A:p.Thr125=	coding	Pathogenic
17	7675995	G	C	G7675995C	TP53	NM_000546.5(TP53):c.374C>G:p.Thr125Arg	coding	Pathogenic/Likely_pathogenic
17	7675995	G	T	G7675995T	TP53	NM_000546.5(TP53):c.374C>A:p.Thr125Lys	coding	Pathogenic
17	7675997	G	T	G7675997T	TP53	NM_000546.5(TP53):c.372C>A:p.Cys124Ter	coding	Pathogenic
17	7676011	T	A	T7676011A	TP53	NM_000546.5(TP53):c.358A>T:p.Lys120Ter	coding	Pathogenic
17	7676015	T	A	T7676015A	TP53	NM_000546.5(TP53):c.354A>T:p.Thr118=	coding	Benign/Likely_benign
17	7676028	A	T	A7676028T	TP53	NM_000546.5(TP53):c.341T>A:p.Leu114Ter	coding	Pathogenic
17	7676040	C	A	C7676040A	TP53	NM_000546.5(TP53):c.329G>T:p.Arg110Leu	coding	Pathogenic/Likely_pathogenic
17	7676040	C	G	C7676040G	TP53	NM_000546.5(TP53):c.329G>C:p.Arg110Pro	coding	Pathogenic
17	7676048	G	T	G7676048T	TP53	NM_000546.5(TP53):c.321C>A:p.Tyr107Ter	coding	Pathogenic
17	7676050	A	G	A7676050G	TP53	NM_000546.5(TP53):c.319T>C:p.Tyr107His	coding	Benign
17	7676059	G	A	G7676059A	TP53	NM_000546.5(TP53):c.310C>T:p.Gln104Ter	coding	Pathogenic
17	7676060	G	C	G7676060C	TP53	NM_000546.6(TP53):c.309C>G:p.Tyr103Ter	coding	Pathogenic
17	7676071	G	A	G7676071A	TP53	NM_000546.5(TP53):c.298C>T:p.Gln100Ter	coding	Pathogenic
17	7676096	C	T	C7676096T	TP53	NM_000546.5(TP53):c.273G>A:p.Trp91Ter	coding	Pathogenic
17	7676152	C	T	C7676152T	TP53	NM_000546.5(TP53):c.217G>A:p.Val73Met	coding	Benign
17	7676153	G	A	G7676153A	TP53	NM_000546.5(TP53):c.216C>T:p.Pro72=	coding	Benign/Likely_benign
17	7676167	C	A	C7676167A	TP53	NM_000546.5(TP53):c.202G>T:p.Glu68Ter	coding	Pathogenic
17	7676176	T	A	T7676176A	TP53	NM_000546.5(TP53):c.193A>T:p.Arg65Ter	coding	Pathogenic
17	7676185	C	A	C7676185A	TP53	NM_000546.5(TP53):c.184G>T:p.Glu62Ter	coding	Pathogenic
17	7676210	C	T	C7676210T	TP53	NM_000546.5(TP53):c.159G>A:p.Trp53Ter	coding	Pathogenic
17	7676211	C	T	C7676211T	TP53	NM_000546.5(TP53):c.158G>A:p.Trp53Ter	coding	Pathogenic
17	7676218	C	A	C7676218A	TP53	NM_000546.5(TP53):c.151G>T:p.Glu51Ter	coding	Pathogenic
17	7676228	C	T	C7676228T	TP53	NM_000546.5(TP53):c.141G>A:p.Pro47=	coding	Benign/Likely_benign
17	7676230	G	A	G7676230A	TP53	NM_000546.6(TP53):c.139C>T:p.Pro47Ser	coding	Benign
17	7676261	C	T	C7676261T	TP53	NM_000546.5(TP53):c.108G>A:p.Pro36=	coding	Benign
17	7676264	C	A	C7676264A	TP53	NM_001126118.1(TP53):c.-13G>T	coding	Pathogenic
17	7676267	G	C	G7676267C	TP53	NM_000546.5(TP53):c.102C>G:p.Pro34=	coding	Benign/Likely_benign
17	7676274	T	C	T7676274C	TP53	NM_000546.5(TP53):c.97-2A>G	noncoding	Pathogenic
17	7676278	G	A	G7676278A	TP53	NM_000546.5(TP53):c.97-6C>T	noncoding	Benign
17	7676283	G	C	G7676283C	TP53	NM_000546.5(TP53):c.97-11C>G	noncoding	Pathogenic
17	7676301	G	T	G7676301T	TP53	NM_000546.5(TP53):c.97-29C>A	noncoding	Benign
17	7676381	C	A	C7676381A	TP53	NM_000546.5(TP53):c.96+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	7676381	C	G	C7676381G	TP53	NM_000546.5(TP53):c.96+1G>C	noncoding	Pathogenic
17	7676483	G	C	G7676483C	TP53	NM_000546.5(TP53):c.74+38C>G	coding	Benign
17	7676483	G	T	G7676483T	TP53	NM_000546.5(TP53):c.74+38C>A	coding	Benign
17	7676507	A	G	A7676507G	TP53	NM_000546.5(TP53):c.74+14T>C	coding	Benign/Likely_benign
17	7676577	T	G	T7676577G	TP53	NM_000546.5(TP53):c.18A>C:p.Ser6=	coding	Benign/Likely_benign
17	7676589	C	T	C7676589T	TP53	NM_000546.5(TP53):c.6G>A:p.Glu2=	coding	Benign/Likely_benign
17	7688404	G	C	G7688404C	TP53;WRAP53	NM_018081.2(WRAP53):c.-245G>C	noncoding	Benign/Likely_benign
17	7688443	G	A	G7688443A	TP53;WRAP53	NM_018081.2(WRAP53):c.-206G>A	noncoding	Benign/Likely_benign
17	7688679	C	T	C7688679T	TP53;WRAP53	NM_001143992.2(WRAP53):c.31C>T:p.Pro11Ser	coding	Benign/Likely_benign
17	7688850	C	G	C7688850G	TP53;WRAP53	NM_001143992.2(WRAP53):c.202C>G:p.Arg68Gly	coding	Benign
17	7689055	C	G	C7689055G	TP53;WRAP53	NM_001143992.2(WRAP53):c.407C>G:p.Pro136Arg	coding	Benign/Likely_benign
17	7689242	C	T	C7689242T	TP53;WRAP53	NM_001143992.2(WRAP53):c.450C>T:p.Phe150=	coding	Benign/Likely_benign
17	7701534	C	T	C7701534T	WRAP53	NM_001143992.2(WRAP53):c.807C>T:p.Arg269=	coding	Benign/Likely_benign
17	7701647	C	T	C7701647T	WRAP53	NM_001143992.2(WRAP53):c.823-10C>T	noncoding	Benign/Likely_benign
17	7701770	C	T	C7701770T	WRAP53	NM_001143992.2(WRAP53):c.936C>T:p.Cys312=	coding	Benign
17	7702514	C	T	C7702514T	WRAP53	NM_001143992.2(WRAP53):c.1126C>T:p.His376Tyr	coding	Pathogenic
17	7702770	C	T	C7702770T	WRAP53	NM_001143992.2(WRAP53):c.1192C>T:p.Arg398Trp	coding	Pathogenic
17	7703027	G	A	G7703027A	WRAP53	NM_001143992.2(WRAP53):c.1303G>A:p.Gly435Arg	coding	Pathogenic
17	7703032	T	C	T7703032C	WRAP53	NM_001143992.2(WRAP53):c.1308T>C:p.Ala436=	coding	Benign
17	7703083	C	T	C7703083T	WRAP53	NM_001143992.2(WRAP53):c.1359C>T:p.Pro453=	coding	Benign/Likely_benign
17	7703321	A	G	A7703321G	WRAP53	NM_001143992.2(WRAP53):c.1482A>G:p.Glu494=	coding	Benign
17	7703404	C	G	C7703404G	WRAP53	NM_001143992.2(WRAP53):c.1565C>G:p.Ala522Gly	coding	Benign
17	7703405	G	A	G7703405A	WRAP53	NM_001143992.2(WRAP53):c.1566G>A:p.Ala522=	coding	Benign/Likely_benign
17	7703480	G	T	G7703480T	WRAP53	NM_001143992.2(WRAP53):c.1641G>T:p.Leu547=	coding	Benign
17	7708647	G	C	G7708647C	EFNB3	NM_001406.4(EFNB3):c.521G>C:p.Gly174Ala	coding	Benign
17	7727187	T	C	T7727187C	DNAH2	NM_020877.4(DNAH2):c.294T>C:p.His98=	coding	Benign
17	7739834	G	A	G7739834A	DNAH2	NM_020877.4(DNAH2):c.1272G>A:p.Leu424=	coding	Benign
17	7740935	T	C	T7740935C	DNAH2	NM_020877.4(DNAH2):c.1632T>C:p.Tyr544=	coding	Benign
17	7759801	C	T	C7759801T	DNAH2	NM_020877.4(DNAH2):c.2648C>T:p.Ser883Leu	coding	Benign/Likely_benign
17	7760836	T	C	T7760836C	DNAH2	NM_020877.4(DNAH2):c.2882T>C:p.Met961Thr	coding	Benign
17	7764024	G	A	G7764024A	DNAH2	NM_020877.4(DNAH2):c.3172G>A:p.Ala1058Thr	coding	Benign
17	7766413	C	A	C7766413A	DNAH2	NM_020877.4(DNAH2):c.3607C>A:p.Leu1203Ile	coding	Benign
17	7767941	C	A	C7767941A	DNAH2	NM_020877.4(DNAH2):c.3717C>A:p.Asp1239Glu	coding	Benign
17	7768019	C	T	C7768019T	DNAH2	NM_020877.4(DNAH2):c.3795C>T:p.His1265=	coding	Benign
17	7770604	A	T	A7770604T	DNAH2	NM_020877.4(DNAH2):c.4146A>T:p.Ile1382=	coding	Benign
17	7770610	C	G	C7770610G	DNAH2	NM_020877.4(DNAH2):c.4152C>G:p.Pro1384=	coding	Benign
17	7776800	A	G	A7776800G	DNAH2	NM_020877.4(DNAH2):c.4969A>G:p.Ile1657Val	coding	Benign
17	7776841	G	A	G7776841A	DNAH2	NM_020877.4(DNAH2):c.5010G>A:p.Ala1670=	coding	Benign
17	7777637	G	A	G7777637A	DNAH2	NM_020877.4(DNAH2):c.5247+3G>A	noncoding	Benign
17	7778094	C	G	C7778094G	DNAH2	NM_020877.4(DNAH2):c.5265C>G:p.Val1755=	coding	Benign
17	7778413	T	G	T7778413G	DNAH2	NM_020877.4(DNAH2):c.5485T>G:p.Cys1829Gly	coding	Benign
17	7780204	C	T	C7780204T	DNAH2	NM_020877.5(DNAH2):c.5770C>T:p.Arg1924Cys	coding	Pathogenic
17	7787884	G	A	G7787884A	DNAH2	NM_020877.4(DNAH2):c.6628G>A:p.Asp2210Asn	coding	Benign
17	7788187	C	T	C7788187T	DNAH2	NM_020877.4(DNAH2):c.6843C>T:p.Tyr2281=	coding	Benign
17	7791976	C	A	C7791976A	DNAH2	NM_020877.5(DNAH2):c.6960C>A:p.Ser2320Arg	coding	Pathogenic
17	7797394	C	T	C7797394T	DNAH2	NM_020877.4(DNAH2):c.7950-6C>T	noncoding	Benign
17	7802026	G	C	G7802026C	DNAH2	NM_020877.4(DNAH2):c.8972+9G>C	noncoding	Benign
17	7805072	C	T	C7805072T	DNAH2	NM_020877.5(DNAH2):c.9298C>T:p.Arg3100Trp	coding	Pathogenic
17	7817712	G	A	G7817712A	DNAH2	NM_020877.4(DNAH2):c.10169+3G>A	noncoding	Benign
17	7819047	C	T	C7819047T	DNAH2	NM_020877.4(DNAH2):c.10799C>T:p.Thr3600Ile	coding	Benign
17	7823985	C	G	C7823985G	DNAH2	NM_020877.4(DNAH2):c.11478+3C>G	noncoding	Benign
17	7824142	C	T	C7824142T	DNAH2	NM_020877.5(DNAH2):c.11500C>T:p.Arg3834Ter	coding	Pathogenic
17	7824145	T	C	T7824145C	DNAH2	NM_020877.5(DNAH2):c.11503T>C:p.Ser3835Pro	coding	Pathogenic
17	7830345	C	T	C7830345T	DNAH2	NM_020877.4(DNAH2):c.11899C>T:p.Pro3967Ser	coding	Benign
17	7830482	C	T	C7830482T	DNAH2	NM_020877.4(DNAH2):c.12036C>T:p.Ser4012=	coding	Benign
17	7830796	A	C	A7830796C	DNAH2	NM_020877.4(DNAH2):c.12184A>C:p.Ile4062Leu	coding	Benign
17	7831158	A	T	A7831158T	DNAH2	NM_020877.4(DNAH2):c.12303A>T:p.Leu4101Phe	coding	Benign
17	7845899	G	A	G7845899A	KDM6B	NM_001080424.2(KDM6B):c.165G>A:p.Pro55=	coding	Benign
17	7846244	C	T	C7846244T	KDM6B	NM_001348716.2(KDM6B):c.403C>T:p.Arg135Ter	coding	Pathogenic
17	7847098	C	T	C7847098T	KDM6B	NM_001080424.2(KDM6B):c.910-7C>T	noncoding	Benign
17	7847341	C	T	C7847341T	KDM6B	NM_001080424.2(KDM6B):c.1146C>T:p.Cys382=	coding	Benign
17	7847352	C	T	C7847352T	KDM6B	NM_001080424.2(KDM6B):c.1157C>T:p.Ala386Val	coding	Benign
17	7847585	T	C	T7847585C	KDM6B	NM_001080424.2(KDM6B):c.1297T>C:p.Ser433Pro	coding	Benign
17	7847590	C	T	C7847590T	KDM6B	NM_001080424.2(KDM6B):c.1302C>T:p.His434=	coding	Benign
17	7847844	T	C	T7847844C	KDM6B	NM_001080424.2(KDM6B):c.1556T>C:p.Leu519Pro	coding	Benign
17	7847948	A	G	A7847948G	KDM6B	NM_001080424.2(KDM6B):c.1660A>G:p.Ser554Gly	coding	Benign
17	7848173	C	T	C7848173T	KDM6B	NM_001080424.2(KDM6B):c.1885C>T:p.Arg629Trp	coding	Benign
17	7848262	C	T	C7848262T	KDM6B	NM_001080424.2(KDM6B):c.1974C>T:p.Pro658=	coding	Benign
17	7848564	C	T	C7848564T	KDM6B	NM_001080424.2(KDM6B):c.2276C>T:p.Thr759Ile	coding	Benign
17	7851505	C	T	C7851505T	KDM6B	NM_001080424.2(KDM6B):c.3972C>T:p.His1324=	coding	Benign
17	7851651	G	A	G7851651A	KDM6B	NM_001348716.2(KDM6B):c.4020G>A:p.Trp1340Ter	coding	Pathogenic
17	7851652	A	T	A7851652T	KDM6B	NM_001348716.2(KDM6B):c.4021A>T:p.Lys1341Ter	coding	Pathogenic
17	7853429	G	C	G7853429C	KDM6B	NM_001080424.2(KDM6B):c.4957G>C:p.Ala1653Pro	coding	Benign
17	7853480	C	A	C7853480A	KDM6B	NM_001080424.2(KDM6B):c.5008C>A:p.Pro1670Thr	coding	Benign
17	7890654	G	A	G7890654A	CHD3	NM_001005273.3(CHD3):c.297G>A:p.Pro99=	coding	Benign
17	7897190	C	T	C7897190T	CHD3	NM_001005273.3(CHD3):c.1815C>T:p.Asp605=	coding	Benign
17	7900352	G	T	G7900352T	CHD3	NM_001005273.2(CHD3):c.2745G>T:p.Leu915Phe	coding	Pathogenic
17	7900706	C	T	C7900706T	CHD3	NM_001005271.3(CHD3):c.3130C>T:p.Arg1044Trp	coding	Pathogenic/Likely_pathogenic
17	7900707	G	A	G7900707A	CHD3	NM_001005273.2(CHD3):c.2954G>A:p.Arg985Gln	coding	Pathogenic
17	7902719	G	C	G7902719C	CHD3	NM_001005273.2(CHD3):c.3362G>C:p.Arg1121Pro	coding	Pathogenic
17	7903038	T	C	T7903038C	CHD3	NM_001005273.2(CHD3):c.3472T>C:p.Trp1158Arg	coding	Pathogenic
17	7903043	C	A	C7903043A	CHD3	NM_005852.4(CHD3):c.3477C>A:p.Asn1159Lys	coding	Pathogenic/Likely_pathogenic
17	7903281	C	T	C7903281T	CHD3	NM_001005271.3(CHD3):c.3682C>T:p.Arg1228Trp	coding	Pathogenic/Likely_pathogenic
17	7903291	G	A	G7903291A	CHD3	NM_001005271.3(CHD3):c.3692G>A:p.Arg1231Gln	coding	Pathogenic
17	7903922	C	T	C7903922T	CHD3	NM_001005273.3(CHD3):c.3825C>T:p.Asp1275=	coding	Benign
17	7907920	C	T	C7907920T	CHD3	NM_001005273.3(CHD3):c.5053C>T:p.Arg1685Ter	coding	Pathogenic
17	7910418	C	T	C7910418T	CHD3	NM_001005273.3(CHD3):c.5591-10C>T	noncoding	Benign
17	8003049	T	A	T8003049A	GUCY2D	NM_000180.4(GUCY2D):c.2T>A:p.Met1Lys	coding	Pathogenic
17	8003050	G	A	G8003050A	GUCY2D	NM_000180.4(GUCY2D):c.3G>A:p.Met1Ile	coding	Pathogenic
17	8003050	G	C	G8003050C	GUCY2D	NM_000180.4(GUCY2D):c.3G>C:p.Met1Ile	coding	Pathogenic
17	8003108	T	C	T8003108C	GUCY2D	NM_000180.4(GUCY2D):c.61T>C:p.Trp21Arg	coding	Benign
17	8003112	G	A	G8003112A	GUCY2D	NM_000180.4(GUCY2D):c.65G>A:p.Trp22Ter	coding	Pathogenic
17	8003201	G	T	G8003201T	GUCY2D	NM_000180.4(GUCY2D):c.154G>T:p.Ala52Ser	coding	Benign
17	8003590	G	A	G8003590A	GUCY2D	NM_000180.4(GUCY2D):c.543G>A:p.Trp181Ter	coding	Pathogenic
17	8003618	C	T	C8003618T	GUCY2D	NM_000180.4(GUCY2D):c.571C>T:p.Gln191Ter	coding	Pathogenic
17	8003871	C	T	C8003871T	GUCY2D	NM_000180.4(GUCY2D):c.741C>T:p.His247=	coding	Benign
17	8003979	C	G	C8003979G	GUCY2D	NM_000180.4(GUCY2D):c.849C>G:p.Tyr283Ter	coding	Pathogenic/Likely_pathogenic
17	8004127	G	T	G8004127T	GUCY2D	NM_000180.4(GUCY2D):c.997G>T:p.Glu333Ter	coding	Pathogenic
17	8004162	C	T	C8004162T	GUCY2D	NM_000180.4(GUCY2D):c.1026+6C>T	noncoding	Benign
17	8006455	G	A	G8006455A	GUCY2D	NM_000180.4(GUCY2D):c.1119G>A:p.Val373=	coding	Benign
17	8006679	C	A	C8006679A	GUCY2D	NM_000180.4(GUCY2D):c.1343C>A:p.Ser448Ter	coding	Pathogenic
17	8006707	C	T	C8006707T	GUCY2D	NM_000180.4(GUCY2D):c.1371C>T:p.Cys457=	coding	Benign
17	8006715	G	A	G8006715A	GUCY2D	NM_000180.4(GUCY2D):c.1378+1G>A	coding	Pathogenic
17	8007523	C	T	C8007523T	GUCY2D	NM_000180.4(GUCY2D):c.1561C>T:p.Arg521Ter	coding	Pathogenic
17	8007529	G	A	G8007529A	GUCY2D	NM_000180.4(GUCY2D):c.1566+1G>A	coding	Pathogenic
17	8007530	T	C	T8007530C	GUCY2D	NM_000180.4(GUCY2D):c.1566+2T>C	noncoding	Pathogenic
17	8007937	C	T	C8007937T	GUCY2D	NM_000180.4(GUCY2D):c.1573C>T:p.Gln525Ter	coding	Pathogenic
17	8007946	C	T	C8007946T	GUCY2D	NM_000180.4(GUCY2D):c.1582C>T:p.Arg528Ter	coding	Pathogenic
17	8007997	C	T	C8007997T	GUCY2D	NM_000180.4(GUCY2D):c.1633C>T:p.Gln545Ter	coding	Pathogenic
17	8009531	T	C	T8009531C	GUCY2D	NM_000180.4(GUCY2D):c.1694T>C:p.Phe565Ser	coding	Pathogenic
17	8009561	C	T	C8009561T	GUCY2D	NM_000180.4(GUCY2D):c.1724C>T:p.Pro575Leu	coding	Benign
17	8012448	A	G	A8012448G	GUCY2D	NM_000180.4(GUCY2D):c.1957-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	8012449	G	T	G8012449T	GUCY2D	NM_000180.4(GUCY2D):c.1957-1G>T	noncoding	Pathogenic
17	8012471	C	T	C8012471T	GUCY2D	NM_000180.4(GUCY2D):c.1978C>T:p.Arg660Ter	coding	Pathogenic
17	8012485	T	G	T8012485G	GUCY2D	NM_000180.4(GUCY2D):c.1992T>G:p.His664Gln	coding	Pathogenic
17	8012594	C	T	C8012594T	GUCY2D	NM_000180.4(GUCY2D):c.2101C>T:p.Pro701Ser	coding	Benign/Likely_benign
17	8012602	G	A	G8012602A	GUCY2D	NM_000180.4(GUCY2D):c.2109G>A:p.Ala703=	coding	Benign
17	8013144	C	T	C8013144T	GUCY2D	NM_000180.4(GUCY2D):c.2155C>T:p.Leu719=	coding	Benign
17	8013254	T	C	T8013254C	GUCY2D	NM_000180.4(GUCY2D):c.2263+2T>C	noncoding	Pathogenic
17	8013918	C	T	C8013918T	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T:p.Arg768Trp	coding	Pathogenic
17	8013919	G	A	G8013919A	GUCY2D	NM_000180.4(GUCY2D):c.2303G>A:p.Arg768Gln	coding	Pathogenic
17	8013951	G	T	G8013951T	GUCY2D	NM_000180.4(GUCY2D):c.2335G>T:p.Glu779Ter	coding	Pathogenic
17	8013961	T	A	T8013961A	GUCY2D	NM_000180.4(GUCY2D):c.2345T>A:p.Leu782His	coding	Benign
17	8014600	G	C	G8014600C	GUCY2D	NM_000180.4(GUCY2D):c.2413-1G>C	noncoding	Pathogenic
17	8014700	C	T	C8014700T	GUCY2D	NM_000180.4(GUCY2D):c.2512C>T:p.Arg838Cys	coding	Pathogenic/Likely_pathogenic
17	8014701	G	A	G8014701A	GUCY2D	NM_000180.4(GUCY2D):c.2513G>A:p.Arg838His	coding	Pathogenic
17	8014701	G	C	G8014701C	GUCY2D	NM_000180.4(GUCY2D):c.2513G>C:p.Arg838Pro	coding	Pathogenic
17	8014705	G	A	G8014705A	GUCY2D	NM_000180.4(GUCY2D):c.2517G>A:p.Thr839=	coding	Benign
17	8014709	G	T	G8014709T	GUCY2D	NM_000180.4(GUCY2D):c.2521G>T:p.Glu841Ter	coding	Pathogenic
17	8014751	C	T	C8014751T	GUCY2D	NM_000180.4(GUCY2D):c.2563C>T:p.Gln855Ter	coding	Pathogenic
17	8014857	A	C	A8014857C	GUCY2D	NM_000180.4(GUCY2D):c.2577-2A>C	noncoding	Pathogenic
17	8014859	G	T	G8014859T	GUCY2D	NM_000180.4(GUCY2D):c.2577G>T:p.Pro859=	coding	Benign
17	8015048	C	G	C8015048G	GUCY2D	NM_000180.4(GUCY2D):c.2766C>G:p.Tyr922Ter	coding	Pathogenic
17	8015326	A	G	A8015326G	GUCY2D	NM_000180.4(GUCY2D):c.2770-2A>G	noncoding	Pathogenic
17	8015327	G	C	G8015327C	GUCY2D	NM_000180.4(GUCY2D):c.2770-1G>C	noncoding	Pathogenic
17	8015404	T	C	T8015404C	GUCY2D	NM_000180.4(GUCY2D):c.2846T>C:p.Ile949Thr	coding	Pathogenic
17	8015419	T	C	T8015419C	GUCY2D	NM_000180.4(GUCY2D):c.2861T>C:p.Leu954Pro	coding	Pathogenic
17	8015475	G	T	G8015475T	GUCY2D	NM_000180.4(GUCY2D):c.2917G>T:p.Val973Leu	coding	Benign
17	8015741	A	C	A8015741C	GUCY2D	NM_000180.4(GUCY2D):c.2945-2A>C	noncoding	Pathogenic
17	8015786	C	G	C8015786G	GUCY2D	NM_000180.4(GUCY2D):c.2988C>G:p.Tyr996Ter	coding	Pathogenic
17	8015861	G	C	G8015861C	GUCY2D	NM_000180.4(GUCY2D):c.3043+20G>C	noncoding	Benign
17	8015920	G	T	G8015920T	GUCY2D	NM_000180.4(GUCY2D):c.3044-7G>T	noncoding	Benign
17	8015948	T	A	T8015948A	GUCY2D	NM_000180.4(GUCY2D):c.3065T>A:p.Leu1022Ter	coding	Pathogenic
17	8016001	C	T	C8016001T	GUCY2D	NM_000180.4(GUCY2D):c.3118C>T:p.Arg1040Ter	coding	Pathogenic
17	8016204	G	C	G8016204C	GUCY2D	NM_000180.4(GUCY2D):c.3139-1G>C	noncoding	Pathogenic
17	8016291	G	C	G8016291C	GUCY2D	NM_000180.4(GUCY2D):c.3224+1G>C	coding	Pathogenic
17	8016433	C	T	C8016433T	GUCY2D	NM_000180.4(GUCY2D):c.3225-10C>T	noncoding	Benign
17	8016436	C	T	C8016436T	GUCY2D	NM_000180.4(GUCY2D):c.3225-7C>T	noncoding	Benign
17	8016464	C	T	C8016464T	GUCY2D	NM_000180.4(GUCY2D):c.3246C>T:p.Ser1082=	coding	Benign
17	8016515	G	A	G8016515A	GUCY2D	NM_000180.4(GUCY2D):c.3297G>A:p.Pro1099=	coding	Benign
17	8045477	C	T	C8045477T	ALOX15B	NM_001141.3(ALOX15B):c.997-6C>T	noncoding	Benign
17	8048438	G	A	G8048438A	ALOX15B	NM_001141.3(ALOX15B):c.1904G>A:p.Arg635Gln	coding	Benign
17	8072705	G	A	G8072705A	ALOX12B	NM_001139.3(ALOX12B):c.*66C>T	noncoding	Benign
17	8072841	C	A	C8072841A	ALOX12B	NM_001139.3(ALOX12B):c.2036G>T:p.Arg679Leu	coding	Pathogenic
17	8073215	G	T	G8073215T	ALOX12B	NM_001139.3(ALOX12B):c.1859C>A:p.Pro620Gln	coding	Pathogenic
17	8073284	G	T	G8073284T	ALOX12B	NM_001139.3(ALOX12B):c.1790C>A:p.Ala597Glu	coding	Pathogenic/Likely_pathogenic
17	8073678	G	T	G8073678T	ALOX12B	NM_001139.3(ALOX12B):c.1734C>A:p.His578Gln	coding	Pathogenic
17	8075607	G	A	G8075607A	ALOX12B	NM_001139.3(ALOX12B):c.1642C>T:p.Arg548Trp	coding	Pathogenic/Likely_pathogenic
17	8075684	G	A	G8075684A	ALOX12B	NM_001139.3(ALOX12B):c.1565C>T:p.Pro522Leu	coding	Benign/Likely_benign
17	8075687	T	C	T8075687C	ALOX12B	NM_001139.3(ALOX12B):c.1562A>G:p.Tyr521Cys	coding	Pathogenic
17	8075727	G	C	G8075727C	ALOX12B	NM_001139.3(ALOX12B):c.1533-11C>G	noncoding	Benign
17	8076725	G	A	G8076725A	ALOX12B	NM_001139.3(ALOX12B):c.1294C>T:p.Arg432Ter	coding	Pathogenic/Likely_pathogenic
17	8076742	A	G	A8076742G	ALOX12B	NM_001139.3(ALOX12B):c.1277T>C:p.Leu426Pro	coding	Pathogenic
17	8076912	C	T	C8076912T	SNORD118	NM_001139.3(ALOX12B):c.1275+78G>A	noncoding	Pathogenic
17	8077058	G	A	G8077058A	ALOX12B	NM_001139.3(ALOX12B):c.1207C>T:p.His403Tyr	coding	Pathogenic
17	8077085	C	T	C8077085T	ALOX12B	NM_001139.3(ALOX12B):c.1180G>A:p.Glu394Lys	coding	Pathogenic
17	8077086	G	A	G8077086A	ALOX12B	NM_001139.3(ALOX12B):c.1179C>T:p.His393=	coding	Benign/Likely_benign
17	8077117	G	A	G8077117A	ALOX12B	NM_001139.3(ALOX12B):c.1148C>T:p.Thr383Met	coding	Pathogenic
17	8079513	G	A	G8079513A	ALOX12B	NM_001139.3(ALOX12B):c.954C>T:p.Tyr318=	coding	Benign
17	8079762	G	T	G8079762T	ALOX12B	NM_001139.3(ALOX12B):c.927+7C>A	noncoding	Benign
17	8080651	G	C	G8080651C	ALOX12B	NM_001139.3(ALOX12B):c.650+7C>G	noncoding	Benign
17	8080778	C	T	C8080778T	ALOX12B	NM_001139.3(ALOX12B):c.530G>A:p.Trp177Ter	coding	Pathogenic
17	8080882	A	C	A8080882C	ALOX12B	NM_001139.3(ALOX12B):c.527+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	8080978	T	C	T8080978C	ALOX12B	NM_001139.3(ALOX12B):c.435-2A>G	noncoding	Pathogenic
17	8081188	C	T	C8081188T	ALOX12B	NM_001139.3(ALOX12B):c.353-1G>A	coding	Pathogenic
17	8081189	T	C	T8081189C	ALOX12B	NM_001139.3(ALOX12B):c.353-2A>G	noncoding	Pathogenic
17	8086028	G	A	G8086028A	ALOX12B	NM_001139.3(ALOX12B):c.340C>T:p.Arg114Trp	coding	Pathogenic
17	8086044	G	A	G8086044A	ALOX12B	NM_001139.3(ALOX12B):c.324C>T:p.Tyr108=	coding	Benign/Likely_benign
17	8086088	C	T	C8086088T	ALOX12B	NM_001139.3(ALOX12B):c.280G>A:p.Gly94Ser	coding	Benign
17	8086116	G	T	G8086116T	ALOX12B	NM_001139.3(ALOX12B):c.252C>A:p.Cys84Ter	coding	Pathogenic
17	8086146	G	A	G8086146A	ALOX12B	NM_001139.3(ALOX12B):c.222C>T:p.Tyr74=	coding	Benign
17	8086169	T	A	T8086169A	ALOX12B	NM_001139.3(ALOX12B):c.199A>T:p.Ile67Phe	coding	Pathogenic
17	8087401	G	A	G8087401A	ALOX12B	NM_001139.3(ALOX12B):c.42C>T:p.Leu14=	coding	Benign
17	8087597	A	G	A8087597G	ALOX12B	NM_001139.3(ALOX12B):c.-155T>C	noncoding	Benign
17	8087600	C	A	C8087600A	ALOX12B	NM_001139.3(ALOX12B):c.-158G>T	noncoding	Benign
17	8096236	G	T	G8096236T	ALOXE3	NM_001165960.1(ALOXE3):c.*391C>A	noncoding	Benign
17	8096271	T	G	T8096271G	ALOXE3	NM_001165960.1(ALOXE3):c.*356A>C	noncoding	Benign
17	8096516	A	G	A8096516G	ALOXE3	NM_001165960.1(ALOXE3):c.*111T>C	noncoding	Benign
17	8096603	T	C	T8096603C	ALOXE3	NM_001165960.1(ALOXE3):c.*24A>G	noncoding	Benign
17	8096639	G	A	G8096639A	ALOXE3	NM_001165960.1(ALOXE3):c.2520C>T:p.Ser840=	coding	Benign
17	8096731	G	A	G8096731A	ALOXE3	NM_001165960.1(ALOXE3):c.2428C>T:p.Arg810Cys	coding	Benign
17	8096744	G	A	G8096744A	ALOXE3	NM_001165960.1(ALOXE3):c.2415C>T:p.Ala805=	coding	Benign
17	8103390	G	A	G8103390A	ALOXE3	NM_001165960.1(ALOXE3):c.2285C>T:p.Pro762Leu	coding	Pathogenic
17	8103495	T	C	T8103495C	ALOXE3	NM_001165960.1(ALOXE3):c.2182-2A>G	noncoding	Pathogenic
17	8103503	C	T	C8103503T	ALOXE3	NM_001165960.1(ALOXE3):c.2182-10G>A	noncoding	Benign/Likely_benign
17	8104098	G	T	G8104098T	ALOXE3	NM_001165960.1(ALOXE3):c.2181+17C>A	noncoding	Benign
17	8108522	G	A	G8108522A	ALOXE3	NM_001165960.1(ALOXE3):c.2026C>T:p.Gln676Ter	coding	Pathogenic
17	8109193	T	C	T8109193C	ALOXE3	NM_001165960.1(ALOXE3):c.1939A>G:p.Ile647Val	coding	Benign
17	8109238	C	A	C8109238A	ALOXE3	NM_001165960.1(ALOXE3):c.1894G>T:p.Val632Phe	coding	Pathogenic
17	8109899	C	T	C8109899T	ALOXE3	NM_001165960.1(ALOXE3):c.1788+17G>A	noncoding	Benign
17	8109979	G	T	G8109979T	ALOXE3	NM_001165960.1(ALOXE3):c.1725C>A:p.Tyr575Ter	coding	Pathogenic
17	8110117	A	G	A8110117G	ALOXE3	NM_001165960.1(ALOXE3):c.1676T>C:p.Leu559Pro	coding	Pathogenic
17	8110211	G	T	G8110211T	ALOXE3	NM_001165960.1(ALOXE3):c.1582C>A:p.Arg528Ser	coding	Pathogenic
17	8111474	C	A	C8111474A	ALOXE3	NM_001165960.1(ALOXE3):c.1238G>T:p.Gly413Val	coding	Pathogenic
17	8111482	G	T	G8111482T	ALOXE3	NM_001165960.1(ALOXE3):c.1230C>A:p.Tyr410Ter	coding	Pathogenic
17	8111545	G	A	G8111545A	ALOXE3	NM_001165960.1(ALOXE3):c.1181-14C>T	noncoding	Benign
17	8112097	C	A	C8112097A	ALOXE3	NM_001165960.1(ALOXE3):c.1176G>T:p.Thr392=	coding	Benign
17	8112168	A	T	A8112168T	ALOXE3	NM_001165960.1(ALOXE3):c.1105T>A:p.Leu369Met	coding	Benign
17	8112177	G	A	G8112177A	ALOXE3	NM_001165960.1(ALOXE3):c.1096C>T:p.Arg366Ter	coding	Pathogenic
17	8114475	T	C	T8114475C	ALOXE3	NM_001165960.1(ALOXE3):c.1076+9A>G	noncoding	Benign
17	8114483	C	T	C8114483T	ALOXE3	NM_021628.3(ALOXE3):c.680+1G>A	noncoding	Pathogenic
17	8114522	G	A	G8114522A	ALOXE3	NM_001165960.1(ALOXE3):c.1038C>T:p.Ala346=	coding	Benign
17	8114533	G	A	G8114533A	ALOXE3	NM_001165960.1(ALOXE3):c.1027C>T:p.Arg343Ter	coding	Pathogenic
17	8114623	G	C	G8114623C	ALOXE3	NM_021628.3(ALOXE3):c.555-14C>G	noncoding	Benign
17	8115607	C	T	C8115607T	ALOXE3	NM_001165960.1(ALOXE3):c.830G>A:p.Arg277His	coding	Pathogenic
17	8115623	G	A	G8115623A	ALOXE3	NM_001165960.1(ALOXE3):c.814C>T:p.Arg272Ter	coding	Pathogenic
17	8116822	A	T	A8116822T	ALOXE3	NM_001165960.1(ALOXE3):c.702T>A:p.Tyr234Ter	coding	Pathogenic
17	8116991	C	G	C8116991G	ALOXE3	NM_021628.3(ALOXE3):c.148-11G>C	noncoding	Benign
17	8118089	G	C	G8118089C	ALOXE3	NM_001165960.1(ALOXE3):c.298C>G:p.Arg100Gly	coding	Benign
17	8118290	G	C	G8118290C	ALOXE3	NM_001165960.1(ALOXE3):c.97C>G:p.Pro33Ala	coding	Benign
17	8121693	C	A	C8121693A	HES7	NM_001165967.2(HES7):c.571G>T:p.Asp191Tyr	coding	Pathogenic
17	8121862	T	C	T8121862C	HES7	NM_001165967.2(HES7):c.402A>G:p.Lys134=	coding	Benign
17	8122394	A	G	A8122394G	HES7	NM_001165967.2(HES7):c.175T>C:p.Leu59=	coding	Benign
17	8122397	T	C	T8122397C	HES7	NM_001165967.2(HES7):c.172A>G:p.Ile58Val	coding	Pathogenic
17	8123046	C	T	C8123046T	HES7	NM_001165967.2(HES7):c.123G>A:p.Glu41=	coding	Benign
17	8123096	G	A	G8123096A	HES7	NM_001165967.2(HES7):c.73C>T:p.Arg25Trp	coding	Pathogenic
17	8141125	T	C	T8141125C	PER1	NM_002616.3(PER1):c.3816A>G:p.Glu1272=	coding	Benign
17	8141233	G	C	G8141233C	PER1	NM_002616.3(PER1):c.3708C>G:p.Gly1236=	coding	Benign
17	8142640	G	A	G8142640A	PER1	NM_002616.3(PER1):c.3259+9C>T	noncoding	Benign
17	8142829	C	T	C8142829T	PER1	NM_002616.3(PER1):c.3079G>A:p.Val1027Ile	coding	Benign
17	8143314	G	A	G8143314A	PER1	NM_002616.3(PER1):c.3024C>T:p.Ala1008=	coding	Benign
17	8143357	C	T	C8143357T	PER1	NM_002616.3(PER1):c.2981G>A:p.Arg994His	coding	Benign
17	8145000	A	G	A8145000G	PER1	NM_002616.3(PER1):c.2219-7T>C	coding	Benign
17	8146623	C	T	C8146623T	PER1	NM_002616.3(PER1):c.1878G>A:p.Gln626=	coding	Benign
17	8147295	A	G	A8147295G	PER1	NM_002616.3(PER1):c.1584T>C:p.Ser528=	coding	Benign
17	8147358	C	T	C8147358T	PER1	NM_002616.3(PER1):c.1521G>A:p.Thr507=	coding	Benign
17	8148796	G	A	G8148796A	PER1	NM_002616.3(PER1):c.906-10C>T	noncoding	Benign
17	8150572	G	A	G8150572A	PER1	NM_002616.3(PER1):c.135C>T:p.Thr45=	coding	Benign
17	8150599	G	A	G8150599A	PER1	NM_002616.3(PER1):c.108C>T:p.Cys36=	coding	Benign
17	8161657	T	G	T8161657G	VAMP2	NM_014232.3(VAMP2):c.233A>C:p.Glu78Ala	coding	Pathogenic
17	8161660	A	G	A8161660G	VAMP2	NM_014232.3(VAMP2):c.230T>C:p.Phe77Ser	coding	Pathogenic
17	8161667	A	G	A8161667G	VAMP2	NM_014232.3(VAMP2):c.223T>C:p.Ser75Pro	coding	Pathogenic
17	8161724	G	A	G8161724A	VAMP2	NM_014232.3(VAMP2):c.166C>T:p.Arg56Ter	coding	Pathogenic
17	8162879	T	C	T8162879C	VAMP2	NM_014232.3(VAMP2):c.1A>G:p.Met1Val	coding	Pathogenic
17	8173448	G	C	G8173448C	SNORD118	NM_183065.4(TMEM107):c.*755C>G	noncoding	Pathogenic
17	8173452	G	A	G8173452A	SNORD118	NM_183065.4(TMEM107):c.*751C>T	noncoding	Pathogenic
17	8173458	G	T	G8173458T	SNORD118	NM_183065.4(TMEM107):c.*745C>A	noncoding	Pathogenic
17	8173459	A	G	A8173459G	SNORD118	NM_183065.4(TMEM107):c.*744T>C	noncoding	Pathogenic
17	8173462	G	C	G8173462C	SNORD118	NM_183065.4(TMEM107):c.*741C>G	noncoding	Pathogenic
17	8173463	G	A	G8173463A	SNORD118	NM_183065.4(TMEM107):c.*740C>T	noncoding	Pathogenic
17	8173485	C	T	C8173485T	SNORD118	NM_183065.4(TMEM107):c.*718G>A	noncoding	Pathogenic
17	8173486	C	T	C8173486T	SNORD118	NM_183065.4(TMEM107):c.*717G>A	noncoding	Pathogenic
17	8173489	A	C	A8173489C	SNORD118	NM_183065.4(TMEM107):c.*714T>G	noncoding	Pathogenic
17	8173507	T	C	T8173507C	SNORD118	NM_183065.4(TMEM107):c.*696A>G	noncoding	Pathogenic
17	8173508	C	G	C8173508G	SNORD118	NM_183065.4(TMEM107):c.*695G>C	noncoding	Pathogenic
17	8173508	C	T	C8173508T	SNORD118	NM_183065.4(TMEM107):c.*695G>A	noncoding	Pathogenic
17	8173514	T	C	T8173514C	SNORD118	NM_183065.4(TMEM107):c.*689A>G	noncoding	Pathogenic
17	8173514	T	G	T8173514G	SNORD118	NM_183065.4(TMEM107):c.*689A>C	noncoding	Pathogenic
17	8173515	C	T	C8173515T	SNORD118	NM_183065.4(TMEM107):c.*688G>A	noncoding	Pathogenic
17	8173516	A	C	A8173516C	SNORD118	NM_183065.4(TMEM107):c.*687T>G	noncoding	Pathogenic
17	8173517	T	C	T8173517C	SNORD118	NM_183065.4(TMEM107):c.*686A>G	noncoding	Pathogenic
17	8173525	C	T	C8173525T	SNORD118	NM_183065.4(TMEM107):c.*678G>A	noncoding	Pathogenic
17	8173528	T	C	T8173528C	SNORD118	NM_183065.4(TMEM107):c.*675A>G	noncoding	Pathogenic
17	8173529	C	G	C8173529G	SNORD118	NM_183065.4(TMEM107):c.*674G>C	noncoding	Pathogenic
17	8173530	A	C	A8173530C	SNORD118	NM_183065.4(TMEM107):c.*673T>G	noncoding	Pathogenic
17	8173531	T	C	T8173531C	SNORD118	NM_183065.4(TMEM107):c.*672A>G	noncoding	Pathogenic
17	8173532	C	A	C8173532A	SNORD118	NM_183065.4(TMEM107):c.*671G>T	noncoding	Pathogenic
17	8173532	C	T	C8173532T	SNORD118	NM_183065.4(TMEM107):c.*671G>A	noncoding	Pathogenic
17	8173547	C	T	C8173547T	SNORD118	NM_183065.4(TMEM107):c.*656G>A	noncoding	Pathogenic
17	8173550	C	A	C8173550A	SNORD118	NM_183065.4(TMEM107):c.*653G>T	noncoding	Pathogenic
17	8173550	C	G	C8173550G	SNORD118	NM_183065.4(TMEM107):c.*653G>C	noncoding	Pathogenic
17	8173581	C	G	C8173581G	SNORD118	NM_183065.4(TMEM107):c.*622G>C	noncoding	Pathogenic
17	8173586	G	T	G8173586T	SNORD118	NM_183065.4(TMEM107):c.*617C>A	noncoding	Pathogenic
17	8173587	A	G	A8173587G	SNORD118	NM_183065.4(TMEM107):c.*616T>C	noncoding	Pathogenic
17	8174224	C	T	C8174224T	TMEM107	NM_183065.4(TMEM107):c.402G>A:p.Gly134=	coding	Benign
17	8174263	T	C	T8174263C	TMEM107	NM_183065.4(TMEM107):c.363A>G:p.Pro121=	coding	Benign
17	8175756	C	T	C8175756T	TMEM107	NM_183065.4(TMEM107):c.256+1G>A	noncoding	Pathogenic
17	8175980	T	C	T8175980C	TMEM107	NM_183065.4(TMEM107):c.134A>G:p.Glu45Gly	coding	Pathogenic
17	8206543	C	G	C8206543G	AURKB	NM_004217.4(AURKB):c.634G>C:p.Gly212Arg	coding	Benign
17	8225332	T	G	T8225332G	CTC1	NM_025099.6(CTC1):c.*2848A>C	noncoding	Benign
17	8225842	A	G	A8225842G	CTC1	NM_025099.6(CTC1):c.*2338T>C	noncoding	Benign
17	8226093	T	C	T8226093C	CTC1	NM_025099.6(CTC1):c.*2087A>G	noncoding	Benign
17	8226174	A	G	A8226174G	CTC1	NM_025099.6(CTC1):c.*2006T>C	noncoding	Benign
17	8226220	G	C	G8226220C	CTC1	NM_025099.6(CTC1):c.*1960C>G	noncoding	Benign
17	8226336	C	T	C8226336T	CTC1	NM_025099.6(CTC1):c.*1844G>A	noncoding	Benign
17	8226373	C	A	C8226373A	CTC1	NM_025099.6(CTC1):c.*1807G>T	noncoding	Benign
17	8226512	C	T	C8226512T	CTC1	NM_025099.6(CTC1):c.*1668G>A	noncoding	Benign
17	8226706	C	T	C8226706T	CTC1	NM_025099.6(CTC1):c.*1474G>A	noncoding	Benign
17	8226730	C	T	C8226730T	CTC1	NM_025099.6(CTC1):c.*1450G>A	noncoding	Benign
17	8226980	A	G	A8226980G	CTC1	NM_025099.6(CTC1):c.*1200T>C	noncoding	Benign
17	8227139	T	C	T8227139C	CTC1	NM_025099.6(CTC1):c.*1041A>G	noncoding	Benign
17	8227549	A	C	A8227549C	CTC1	NM_025099.6(CTC1):c.*631T>G	noncoding	Benign
17	8227905	C	T	C8227905T	CTC1	NM_025099.6(CTC1):c.*275G>A	noncoding	Benign
17	8228137	G	A	G8228137A	CTC1	NM_025099.6(CTC1):c.*43C>T	noncoding	Benign
17	8228243	G	C	G8228243C	CTC1	NM_025099.6(CTC1):c.3591C>G:p.Ser1197=	coding	Benign
17	8228251	G	A	G8228251A	CTC1	NM_025099.6(CTC1):c.3583C>T:p.Arg1195Ter	coding	Pathogenic
17	8228592	A	T	A8228592T	CTC1	NM_025099.6(CTC1):c.3425T>A:p.Leu1142His	coding	Pathogenic
17	8228756	G	A	G8228756A	CTC1	NM_025099.6(CTC1):c.3358C>T:p.Gln1120Ter	coding	Pathogenic
17	8229305	C	G	C8229305G	CTC1	NM_025099.6(CTC1):c.3153G>C:p.Arg1051=	coding	Benign/Likely_benign
17	8229371	G	A	G8229371A	CTC1	NM_025099.6(CTC1):c.3087C>T:p.Cys1029=	coding	Benign
17	8229386	C	T	C8229386T	CTC1	NM_025099.6(CTC1):c.3072G>A:p.Gln1024=	coding	Benign
17	8229409	G	A	G8229409A	CTC1	NM_025099.6(CTC1):c.3049C>T:p.Gln1017Ter	coding	Pathogenic
17	8229445	T	C	T8229445C	CTC1	NM_025099.6(CTC1):c.3013A>G:p.Ile1005Val	coding	Benign
17	8229929	A	C	A8229929C	CTC1	NM_025099.6(CTC1):c.2973T>G:p.Tyr991Ter	coding	Pathogenic
17	8229929	A	G	A8229929G	CTC1	NM_025099.6(CTC1):c.2973T>C:p.Tyr991=	coding	Benign/Likely_benign
17	8229943	G	A	G8229943A	CTC1	NM_025099.6(CTC1):c.2959C>T:p.Arg987Trp	coding	Pathogenic
17	8231334	C	T	C8231334T	CTC1	NM_025099.6(CTC1):c.2611G>A:p.Val871Met	coding	Pathogenic
17	8231743	T	C	T8231743C	CTC1	NM_025099.6(CTC1):c.2458A>G:p.Ile820Val	coding	Benign
17	8231828	A	C	A8231828C	CTC1	NM_025099.6(CTC1):c.2386-13T>G	noncoding	Benign
17	8231935	C	T	C8231935T	CTC1	NM_025099.6(CTC1):c.2353G>A:p.Glu785Lys	coding	Benign
17	8232126	C	G	C8232126G	CTC1	NM_025099.6(CTC1):c.2162G>C:p.Gly721Ala	coding	Benign
17	8232128	G	A	G8232128A	CTC1	NM_025099.6(CTC1):c.2160C>T:p.Thr720=	coding	Benign
17	8232134	A	T	A8232134T	CTC1	NM_025099.6(CTC1):c.2154T>A:p.Asp718Glu	coding	Benign/Likely_benign
17	8232162	G	C	G8232162C	CTC1	NM_025099.6(CTC1):c.2126C>G:p.Ser709Ter	coding	Pathogenic
17	8232427	A	C	A8232427C	CTC1	NM_025099.6(CTC1):c.1994T>G:p.Val665Gly	coding	Pathogenic
17	8234478	G	A	G8234478A	CTC1	NM_025099.6(CTC1):c.1795C>T:p.Pro599Ser	coding	Benign
17	8234545	C	T	C8234545T	CTC1	NM_025099.6(CTC1):c.1728G>A:p.Pro576=	coding	Benign/Likely_benign
17	8234738	C	T	C8234738T	CTC1	NM_025099.6(CTC1):c.1617+11G>A	noncoding	Benign
17	8235091	G	A	G8235091A	CTC1	NM_025099.6(CTC1):c.1401C>T:p.Tyr467=	coding	Benign
17	8235109	C	T	C8235109T	CTC1	NM_025099.6(CTC1):c.1383G>A:p.Gln461=	coding	Benign
17	8235185	C	T	C8235185T	CTC1	NM_025099.6(CTC1):c.1307G>A:p.Arg436His	coding	Benign
17	8235251	C	G	C8235251G	CTC1	NM_025099.6(CTC1):c.1241G>C:p.Gly414Ala	coding	Benign
17	8235851	G	A	G8235851A	CTC1	NM_025099.6(CTC1):c.1186C>T:p.Arg396Ter	coding	Pathogenic
17	8236110	T	C	T8236110C	CTC1	NM_025099.6(CTC1):c.1025A>G:p.Asp342Gly	coding	Benign/Likely_benign
17	8236145	G	A	G8236145A	CTC1	NM_025099.6(CTC1):c.990C>T:p.Asp330=	coding	Benign
17	8236276	G	A	G8236276A	CTC1	NM_025099.6(CTC1):c.859C>T:p.Arg287Ter	coding	Pathogenic
17	8237392	C	T	C8237392T	CTC1	NM_025099.6(CTC1):c.775G>A:p.Val259Met	coding	Pathogenic/Likely_pathogenic
17	8237472	C	T	C8237472T	CTC1	NM_025099.6(CTC1):c.695G>A:p.Arg232Gln	coding	Benign
17	8237487	G	A	G8237487A	CTC1	NM_025099.6(CTC1):c.680C>T:p.Ala227Val	coding	Pathogenic
17	8237497	G	A	G8237497A	CTC1	NM_025099.6(CTC1):c.670C>T:p.Arg224Ter	coding	Pathogenic
17	8238201	C	A	C8238201A	CTC1	NM_025099.6(CTC1):c.477G>T:p.Leu159=	coding	Benign
17	8238461	T	C	T8238461C	CTC1	NM_025099.6(CTC1):c.366A>G:p.Ala122=	coding	Benign
17	8238505	G	A	G8238505A	CTC1	NM_025099.6(CTC1):c.322C>T:p.Arg108Ter	coding	Pathogenic
17	8238550	G	A	G8238550A	CTC1	NM_025099.6(CTC1):c.277C>T:p.Gln93Ter	coding	Pathogenic
17	8238579	C	G	C8238579G	CTC1	NM_025099.6(CTC1):c.248G>C:p.Ser83Thr	coding	Benign/Likely_benign
17	8238594	C	T	C8238594T	CTC1	NM_025099.6(CTC1):c.233G>A:p.Arg78His	coding	Benign/Likely_benign
17	8242970	G	A	G8242970A	CTC1	NM_025099.6(CTC1):c.197+15C>T	noncoding	Benign
17	8242993	G	C	G8242993C	CTC1	NM_025099.6(CTC1):c.189C>G:p.Leu63=	coding	Benign/Likely_benign
17	8243056	T	C	T8243056C	CTC1	NM_025099.6(CTC1):c.126A>G:p.Val42=	coding	Benign/Likely_benign
17	8248018	G	A	G8248018A	CTC1	NM_025099.6(CTC1):c.19C>T:p.Gln7Ter	coding	Pathogenic
17	8248105	C	T	C8248105T	CTC1	NM_025099.6(CTC1):c.-69G>A	noncoding	Benign
17	8257799	C	G	C8257799G	PFAS	NM_012393.3(PFAS):c.1076-8C>G	noncoding	Benign
17	8258163	G	A	G8258163A	PFAS	NM_012393.3(PFAS):c.1300G>A:p.Glu434Lys	coding	Benign
17	8262979	G	A	G8262979A	PFAS	NM_012393.3(PFAS):c.1396G>A:p.Ala466Thr	coding	Benign
17	8264266	G	A	G8264266A	PFAS	NM_012393.3(PFAS):c.1846G>A:p.Ala616Thr	coding	Benign
17	8288884	C	G	C8288884G	RANGRF	NM_016492.5(RANGRF):c.77+19C>G	coding	Benign
17	8288959	C	T	C8288959T	RANGRF	NM_016492.5(RANGRF):c.81C>T:p.Asp27=	coding	Benign
17	8289059	G	T	G8289059T	RANGRF	NM_016492.5(RANGRF):c.181G>T:p.Glu61Ter	coding	Benign/Likely_benign
17	8289331	T	C	T8289331C	RANGRF	NM_016492.5(RANGRF):c.268T>C:p.Leu90=	coding	Benign
17	8289604	C	T	C8289604T	RANGRF	NM_016492.5(RANGRF):c.437+16C>T	coding	Benign
17	8289885	G	A	G8289885A	RANGRF	NM_016492.5(RANGRF):c.510G>A:p.Gln170=	coding	Benign
17	8312093	G	A	G8312093A	ARHGEF15	NM_173728.4(ARHGEF15):c.54G>A:p.Arg18=	coding	Benign
17	8312106	C	T	C8312106T	ARHGEF15	NM_173728.4(ARHGEF15):c.67C>T:p.Arg23Cys	coding	Benign
17	8312256	C	T	C8312256T	ARHGEF15	NM_173728.4(ARHGEF15):c.217C>T:p.Pro73Ser	coding	Benign
17	8312609	C	T	C8312609T	ARHGEF15	NM_173728.4(ARHGEF15):c.570C>T:p.Thr190=	coding	Benign
17	8312938	C	T	C8312938T	ARHGEF15	NM_173728.4(ARHGEF15):c.618C>T:p.Cys206=	coding	Benign
17	8313028	G	A	G8313028A	ARHGEF15	NM_173728.4(ARHGEF15):c.708G>A:p.Arg236=	coding	Benign
17	8313031	C	T	C8313031T	ARHGEF15	NM_173728.4(ARHGEF15):c.711C>T:p.Val237=	coding	Benign
17	8313142	C	T	C8313142T	ARHGEF15	NM_173728.4(ARHGEF15):c.822C>T:p.Leu274=	coding	Benign
17	8313250	A	G	A8313250G	ARHGEF15	NM_173728.4(ARHGEF15):c.930A>G:p.Gln310=	coding	Benign
17	8313526	G	A	G8313526A	ARHGEF15	NM_173728.4(ARHGEF15):c.960G>A:p.Gln320=	coding	Benign
17	8315267	G	T	G8315267T	ARHGEF15	NM_173728.4(ARHGEF15):c.1250G>T:p.Arg417Leu	coding	Benign
17	8315281	G	A	G8315281A	ARHGEF15	NM_173728.4(ARHGEF15):c.1260+4G>A	noncoding	Benign/Likely_benign
17	8315285	C	G	C8315285G	ARHGEF15	NM_173728.4(ARHGEF15):c.1260+8C>G	noncoding	Benign
17	8315431	G	A	G8315431A	ARHGEF15	NM_173728.4(ARHGEF15):c.1278G>A:p.Val426=	coding	Benign
17	8316082	G	A	G8316082A	ARHGEF15	NM_173728.4(ARHGEF15):c.1638G>A:p.Arg546=	coding	Benign
17	8318599	G	C	G8318599C	ARHGEF15	NM_173728.4(ARHGEF15):c.1809G>C:p.Gly603=	coding	Benign
17	8318617	A	G	A8318617G	ARHGEF15	NM_173728.4(ARHGEF15):c.1827A>G:p.Glu609=	coding	Benign
17	8318745	C	T	C8318745T	ARHGEF15	NM_173728.4(ARHGEF15):c.1873-5C>T	noncoding	Benign
17	8318821	G	A	G8318821A	ARHGEF15	NM_173728.4(ARHGEF15):c.1944G>A:p.Arg648=	coding	Benign
17	8318881	C	T	C8318881T	ARHGEF15	NM_173728.4(ARHGEF15):c.2004C>T:p.Ser668=	coding	Benign
17	8319364	T	C	T8319364C	ARHGEF15	NM_173728.4(ARHGEF15):c.2239T>C:p.Cys747Arg	coding	Benign
17	8319527	G	A	G8319527A	ARHGEF15	NM_173728.4(ARHGEF15):c.2298G>A:p.Ser766=	coding	Benign
17	8319552	C	T	C8319552T	ARHGEF15	NM_173728.4(ARHGEF15):c.2323C>T:p.Arg775Trp	coding	Benign
17	8319566	C	T	C8319566T	ARHGEF15	NM_173728.4(ARHGEF15):c.2337C>T:p.Ser779=	coding	Benign
17	8319595	C	A	C8319595A	ARHGEF15	NM_173728.4(ARHGEF15):c.2366C>A:p.Thr789Asn	coding	Benign
17	8320855	G	T	G8320855T	ARHGEF15	NM_173728.4(ARHGEF15):c.2388G>T:p.Gly796=	coding	Benign
17	8320961	T	C	T8320961C	ARHGEF15	NM_173728.4(ARHGEF15):c.2494T>C:p.Ser832Pro	coding	Benign
17	8320971	C	A	C8320971A	ARHGEF15	NM_173728.4(ARHGEF15):c.2504C>A:p.Thr835Asn	coding	Benign
17	8320986	C	A	C8320986A	ARHGEF15	NM_173728.4(ARHGEF15):c.2519C>A:p.Pro840Gln	coding	Benign
17	8382215	G	A	G8382215A	RPL26	NM_000987.5(RPL26):c.96C>T:p.Ser32=	coding	Benign
17	8475843	G	A	G8475843A	MYH10	NM_001256012.3(MYH10):c.5985C>T:p.Thr1995=	coding	Benign
17	8478334	G	A	G8478334A	MYH10	NM_001256012.3(MYH10):c.5706+4C>T	noncoding	Benign
17	8481351	C	T	C8481351T	MYH10	NM_001256012.3(MYH10):c.5235G>A:p.Ala1745=	coding	Benign
17	8492463	C	G	C8492463G	MYH10	NM_001256012.2(MYH10):c.4505G>C:p.Arg1502Pro	coding	Pathogenic
17	8512588	C	A	C8512588A	MYH10	NM_005964.4(MYH10):c.2722G>T:p.Glu908Ter	coding	Pathogenic
17	8513604	C	T	C8513604T	MYH10	NM_001256012.3(MYH10):c.2679G>A:p.Leu893=	coding	Benign
17	8521185	T	C	T8521185C	MYH10	NM_001256012.3(MYH10):c.2058A>G:p.Gln686=	coding	Benign
17	8542125	G	A	G8542125A	MYH10	NM_001256012.3(MYH10):c.1587C>T:p.Ile529=	coding	Benign
17	8569753	C	T	C8569753T	MYH10	NM_001256012.3(MYH10):c.723G>A:p.Ala241=	coding	Benign
17	8881770	A	C	A8881770C	PIK3R5	NM_001142633.2(PIK3R5):c.2299+18T>G	noncoding	Benign
17	8881775	C	T	C8881775T	PIK3R5	NM_001142633.2(PIK3R5):c.2299+13G>A	noncoding	Benign
17	8884697	C	T	C8884697T	PIK3R5	NM_001142633.2(PIK3R5):c.2205+10G>A	noncoding	Benign
17	8887156	G	A	G8887156A	PIK3R5	NM_001142633.2(PIK3R5):c.1845C>T:p.Asp615=	coding	Benign
17	8887210	G	A	G8887210A	PIK3R5	NM_001142633.2(PIK3R5):c.1791C>T:p.Thr597=	coding	Benign
17	8887619	C	T	C8887619T	PIK3R5	NM_001142633.2(PIK3R5):c.1681G>A:p.Val561Met	coding	Benign
17	8888177	T	C	T8888177C	PIK3R5	NM_001142633.2(PIK3R5):c.1610A>G:p.Asn537Ser	coding	Benign
17	8888686	C	T	C8888686T	PIK3R5	NM_001142633.2(PIK3R5):c.1101G>A:p.Ser367=	coding	Benign
17	8888712	A	G	A8888712G	PIK3R5	NM_001142633.2(PIK3R5):c.1075T>C:p.Leu359=	coding	Benign
17	8888776	G	A	G8888776A	PIK3R5	NM_001142633.2(PIK3R5):c.1011C>T:p.Asp337=	coding	Benign
17	8888854	T	C	T8888854C	PIK3R5	NM_001142633.2(PIK3R5):c.933A>G:p.Leu311=	coding	Benign
17	8889179	G	A	G8889179A	PIK3R5	NM_001142633.2(PIK3R5):c.855C>T:p.Val285=	coding	Benign
17	8889197	G	A	G8889197A	PIK3R5	NM_001142633.2(PIK3R5):c.837C>T:p.His279=	coding	Benign
17	8890798	G	A	G8890798A	PIK3R5	NM_001142633.2(PIK3R5):c.597C>T:p.His199=	coding	Benign
17	8911480	G	A	G8911480A	PIK3R5	NM_001142633.2(PIK3R5):c.15C>T:p.Ala5=	coding	Benign
17	9239954	T	C	T9239954C	NTN1	NM_004822.3(NTN1):c.1801T>C:p.Cys601Arg	coding	Pathogenic
17	9239955	G	C	G9239955C	NTN1	NM_004822.3(NTN1):c.1802G>C:p.Cys601Ser	coding	Pathogenic
17	9575803	T	C	T9575803C	STX8	NM_004853.3(STX8):c.6A>G:p.Ala2=	coding	Benign
17	9585915	C	T	C9585915T	CFAP52	NM_145054.5(CFAP52):c.213C>T:p.Ala71=	coding	Benign
17	9628669	C	T	C9628669T	CFAP52	NM_145054.5(CFAP52):c.1026-3C>T	noncoding	Benign
17	9628693	A	T	A9628693T	CFAP52	NM_145054.5(CFAP52):c.1047A>T:p.Ala349=	coding	Benign
17	9628711	T	C	T9628711C	CFAP52	NM_145054.5(CFAP52):c.1065T>C:p.Asp355=	coding	Benign
17	9632898	C	T	C9632898T	CFAP52	NM_145054.5(CFAP52):c.1185C>T:p.Asp395=	coding	Benign
17	9635453	C	T	C9635453T	CFAP52	NM_145054.5(CFAP52):c.1369C>T:p.Leu457=	coding	Benign
17	9635476	G	T	G9635476T	CFAP52	NM_145054.5(CFAP52):c.1392G>T:p.Val464=	coding	Benign
17	9643027	A	C	A9643027C	CFAP52	NM_145054.5(CFAP52):c.1692A>C:p.Gly564=	coding	Benign
17	9686906	A	T	A9686906T	USP43	NM_153210.5(USP43):c.1350A>T:p.Val450=	coding	Benign
17	9728105	C	T	C9728105T	USP43	NM_153210.5(USP43):c.2487C>T:p.Ser829=	coding	Benign
17	9728677	T	C	T9728677C	USP43	NM_153210.5(USP43):c.3059T>C:p.Val1020Ala	coding	Benign
17	9780047	A	G	A9780047G	DHRS7C	NM_001105571.3(DHRS7C):c.268-12T>C	noncoding	Benign
17	9781604	A	G	A9781604G	DHRS7C	NM_001105571.3(DHRS7C):c.155-10T>C	noncoding	Benign
17	9826128	A	T	A9826128T	GLP2R	NM_004246.3(GLP2R):c.65A>T:p.His22Leu	coding	Benign
17	9833888	C	G	C9833888G	GLP2R	NM_004246.3(GLP2R):c.271C>G:p.Pro91Ala	coding	Benign
17	9836384	C	T	C9836384T	GLP2R	NM_004246.3(GLP2R):c.291C>T:p.Asn97=	coding	Benign
17	9857438	G	A	G9857438A	GLP2R	NM_004246.3(GLP2R):c.627G>A:p.Thr209=	coding	Benign
17	9857575	A	C	A9857575C	GLP2R	NM_004246.3(GLP2R):c.764A>C:p.Glu255Ala	coding	Benign
17	9889457	C	T	C9889457T	GLP2R	NM_004246.3(GLP2R):c.1414C>T:p.Arg472Trp	coding	Benign
17	9889586	G	A	G9889586A	GLP2R	NM_004246.3(GLP2R):c.1543G>A:p.Ala515Thr	coding	Benign
17	9889611	G	A	G9889611A	GLP2R	NM_004246.3(GLP2R):c.1568G>A:p.Arg523His	coding	Benign
17	9901082	T	C	T9901082C	RCVRN	NM_002903.3(RCVRN):c.400A>G:p.Thr134Ala	coding	Benign
17	9926667	C	A	C9926667A	GAS7	NM_201433.2(GAS7):c.988G>T:p.Ala330Ser	coding	Benign
17	9943210	G	A	G9943210A	GAS7	NM_201433.2(GAS7):c.642C>T:p.Asn214=	coding	Benign
17	9946969	C	T	C9946969T	GAS7	NM_201433.2(GAS7):c.540G>A:p.Thr180=	coding	Benign
17	10392597	T	G	T10392597G	MYH8	NM_002472.3(MYH8):c.5513A>C:p.Glu1838Ala	coding	Benign/Likely_benign
17	10392602	A	G	A10392602G	MYH8	NM_002472.3(MYH8):c.5508T>C:p.Asn1836=	coding	Benign
17	10392606	C	T	C10392606T	MYH8	NM_002472.3(MYH8):c.5504G>A:p.Arg1835His	coding	Benign
17	10392626	C	T	C10392626T	MYH8	NM_002472.3(MYH8):c.5484G>A:p.Glu1828=	coding	Benign
17	10392646	C	T	C10392646T	MYH8	NM_002472.3(MYH8):c.5464G>A:p.Val1822Ile	coding	Benign/Likely_benign
17	10392811	A	G	A10392811G	MYH8	NM_002472.3(MYH8):c.5463+20T>C	noncoding	Benign
17	10393169	G	A	G10393169A	MYH8	NM_002472.3(MYH8):c.5208C>T:p.Asp1736=	coding	Benign
17	10394341	A	G	A10394341G	MYH8	NM_002472.3(MYH8):c.5074T>C:p.Trp1692Arg	coding	Benign
17	10394387	A	T	A10394387T	MYH8	NM_002472.3(MYH8):c.5028T>A:p.Ile1676=	coding	Benign
17	10395355	T	G	T10395355G	MYH8	NM_002472.3(MYH8):c.4740A>C:p.Ala1580=	coding	Benign/Likely_benign
17	10396582	G	A	G10396582A	MYH8	NM_002472.3(MYH8):c.4499C>T:p.Thr1500Met	coding	Benign/Likely_benign
17	10396702	T	C	T10396702C	MYH8	NM_002472.3(MYH8):c.4379A>G:p.Lys1460Arg	coding	Benign
17	10396932	G	A	G10396932A	MYH8	NM_002472.3(MYH8):c.4233C>T:p.Asn1411=	coding	Benign/Likely_benign
17	10399648	G	A	G10399648A	MYH8	NM_002472.3(MYH8):c.3757C>T:p.Arg1253Cys	coding	Benign/Likely_benign
17	10400439	A	G	A10400439G	MYH8	NM_002472.3(MYH8):c.3686T>C:p.Met1229Thr	coding	Benign/Likely_benign
17	10400549	C	T	C10400549T	MYH8	NM_002472.3(MYH8):c.3576G>A:p.Val1192=	coding	Benign
17	10400612	C	T	C10400612T	MYH8	NM_002472.3(MYH8):c.3513G>A:p.Glu1171=	coding	Benign
17	10400944	G	A	G10400944A	MYH8	NM_002472.3(MYH8):c.3270C>T:p.Ile1090=	coding	Benign
17	10401183	C	T	C10401183T	MYH8	NM_002472.3(MYH8):c.3117G>A:p.Gly1039=	coding	Benign
17	10401255	G	T	G10401255T	MYH8	NM_002472.3(MYH8):c.3108+20C>A	noncoding	Benign
17	10401384	T	G	T10401384G	MYH8	NM_002472.3(MYH8):c.2999A>C:p.Lys1000Thr	coding	Benign
17	10401385	T	C	T10401385C	MYH8	NM_002472.3(MYH8):c.2998A>G:p.Lys1000Glu	coding	Benign
17	10404366	T	C	T10404366C	MYH8	NM_002472.3(MYH8):c.2652A>G:p.Leu884=	coding	Benign
17	10406035	T	G	T10406035G	MYH8	NM_002472.3(MYH8):c.2432+6A>C	noncoding	Benign/Likely_benign
17	10406295	T	C	T10406295C	MYH8	NM_002472.3(MYH8):c.2274A>G:p.Gln758=	coding	Benign/Likely_benign
17	10406714	A	T	A10406714T	MYH8	NM_002472.3(MYH8):c.2147T>A:p.Ile716Asn	coding	Benign/Likely_benign
17	10406924	C	T	C10406924T	MYH8	NM_002472.3(MYH8):c.2021G>A:p.Arg674Gln	coding	Pathogenic
17	10406929	G	A	G10406929A	MYH8	NM_002472.3(MYH8):c.2016C>T:p.Phe672=	coding	Benign
17	10409155	G	A	G10409155A	MYH8	NM_002472.3(MYH8):c.1907C>T:p.Ala636Val	coding	Benign
17	10409361	A	T	A10409361T	MYH8	NM_002472.3(MYH8):c.1815T>A:p.Asn605Lys	coding	Benign/Likely_benign
17	10409445	C	G	C10409445G	MYH8	NM_002472.3(MYH8):c.1731G>C:p.Glu577Asp	coding	Benign/Likely_benign
17	10409475	C	T	C10409475T	MYH8	NM_002472.3(MYH8):c.1701G>A:p.Gln567=	coding	Benign
17	10409526	G	A	G10409526A	MYH8	NM_002472.3(MYH8):c.1650C>T:p.Ser550=	coding	Benign
17	10409544	A	G	A10409544G	MYH8	NM_002472.3(MYH8):c.1632T>C:p.Pro544=	coding	Benign/Likely_benign
17	10410894	C	T	C10410894T	MYH8	NM_002472.3(MYH8):c.1470G>A:p.Gln490=	coding	Benign
17	10415107	G	A	G10415107A	MYH8	NM_002472.3(MYH8):c.805+9C>T	noncoding	Benign/Likely_benign
17	10415307	G	A	G10415307A	MYH8	NM_002472.3(MYH8):c.726C>T:p.Asp242=	coding	Benign
17	10415319	A	G	A10415319G	MYH8	NM_002472.3(MYH8):c.714T>C:p.Thr238=	coding	Benign
17	10415358	G	A	G10415358A	MYH8	NM_002472.3(MYH8):c.675C>T:p.Ser225=	coding	Benign/Likely_benign
17	10415580	G	A	G10415580A	MYH8	NM_002472.3(MYH8):c.540C>T:p.Thr180=	coding	Benign/Likely_benign
17	10419016	C	G	C10419016G	MYH8	NM_002472.3(MYH8):c.225G>C:p.Arg75Ser	coding	Benign/Likely_benign
17	10421663	C	T	C10421663T	MYH8	NM_002472.3(MYH8):c.-31G>A	noncoding	Benign
17	10445058	T	G	T10445058G	MYH4	NM_017533.2(MYH4):c.5384A>C:p.Lys1795Thr	coding	Benign
17	10447975	C	T	C10447975T	MYH4	NM_017533.2(MYH4):c.4808G>A:p.Ser1603Asn	coding	Benign
17	10450473	T	C	T10450473C	MYH4	NM_017533.2(MYH4):c.4161A>G:p.Thr1387=	coding	Benign
17	10451410	T	G	T10451410G	MYH4	NM_017533.2(MYH4):c.3781A>C:p.Ser1261Arg	coding	Benign
17	10453655	G	A	G10453655A	MYH4	NM_017533.2(MYH4):c.2922C>T:p.Ala974=	coding	Benign
17	10455267	G	T	G10455267T	MYH4	NM_017533.2(MYH4):c.2203C>A:p.Pro735Thr	coding	Benign
17	10521229	G	T	G10521229T	MYH2	NM_017534.6(MYH2):c.*51C>A	noncoding	Benign
17	10521442	A	G	A10521442G	MYH2	NM_017534.6(MYH2):c.5674-10T>C	noncoding	Benign
17	10523154	A	G	A10523154G	MYH2	NM_017534.6(MYH2):c.5609T>C:p.Leu1870Pro	coding	Pathogenic
17	10524607	G	A	G10524607A	MYH2	NM_017534.6(MYH2):c.5034C>T:p.Ala1678=	coding	Benign
17	10524652	C	T	C10524652T	MYH2	NM_017534.6(MYH2):c.4989G>A:p.Leu1663=	coding	Benign
17	10524868	G	C	G10524868C	MYH2	NM_017534.6(MYH2):c.4860C>G:p.Leu1620=	coding	Benign
17	10525451	G	A	G10525451A	MYH2	NM_017534.6(MYH2):c.4537C>T:p.Gln1513Ter	coding	Pathogenic
17	10525735	G	A	G10525735A	MYH2	NM_017534.6(MYH2):c.4329C>T:p.Ala1443=	coding	Benign
17	10525806	G	A	G10525806A	MYH2	NM_017534.6(MYH2):c.4258C>T:p.Leu1420Phe	coding	Benign
17	10525822	G	A	G10525822A	MYH2	NM_017534.6(MYH2):c.4242C>T:p.Asn1414=	coding	Benign
17	10526779	G	T	G10526779T	MYH2	NM_017534.6(MYH2):c.4007C>A:p.Ala1336Glu	coding	Benign
17	10528782	G	A	G10528782A	MYH2	NM_017534.6(MYH2):c.3652C>T:p.Arg1218Ter	coding	Pathogenic
17	10528852	T	C	T10528852C	MYH2	NM_017534.6(MYH2):c.3582A>G:p.Thr1194=	coding	Benign/Likely_benign
17	10529002	G	A	G10529002A	MYH2	NM_017534.6(MYH2):c.3432C>T:p.Asp1144=	coding	Benign/Likely_benign
17	10529185	G	A	G10529185A	MYH2	NM_017534.6(MYH2):c.3331C>T:p.Gln1111Ter	coding	Pathogenic
17	10529321	T	C	T10529321C	MYH2	NM_017534.6(MYH2):c.3263+15A>G	noncoding	Benign
17	10529361	G	A	G10529361A	MYH2	NM_017534.6(MYH2):c.3238C>T:p.Gln1080Ter	coding	Pathogenic
17	10529532	G	A	G10529532A	MYH2	NM_017534.6(MYH2):c.3117+32C>T	noncoding	Benign
17	10529714	T	C	T10529714C	MYH2	NM_017534.6(MYH2):c.2967A>G:p.Ala989=	coding	Benign
17	10529883	A	G	A10529883G	MYH2	NM_017534.6(MYH2):c.2889T>C:p.Leu963=	coding	Benign
17	10530082	T	G	T10530082G	MYH2	NM_017534.6(MYH2):c.2698-8A>C	noncoding	Benign
17	10531608	T	C	T10531608C	MYH2	NM_017534.6(MYH2):c.2697+25A>G	noncoding	Benign
17	10533321	A	T	A10533321T	MYH2	NM_017534.6(MYH2):c.2405T>A:p.Leu802Ter	coding	Pathogenic
17	10533344	G	T	G10533344T	MYH2	NM_017534.6(MYH2):c.2382C>A:p.Thr794=	coding	Benign
17	10533349	G	A	G10533349A	MYH2;MYHAS	NM_017534.6(MYH2):c.2377C>T:p.Arg793Ter	coding	Pathogenic
17	10533379	G	A	G10533379A	MYH2	NM_017534.6(MYH2):c.2347C>T:p.Arg783Ter	coding	Pathogenic
17	10533502	A	C	A10533502C	MYH2	NM_017534.6(MYH2):c.2304+7T>G	noncoding	Benign/Likely_benign
17	10533518	C	T	C10533518T	MYH2	NM_017534.6(MYH2):c.2295G>A:p.Gly765=	coding	Benign
17	10535137	C	T	C10535137T	MYH2	NM_017534.6(MYH2):c.2116G>A:p.Glu706Lys	coding	Pathogenic
17	10535147	G	A	G10535147A	MYH2	NM_017534.6(MYH2):c.2106C>T:p.Asn702=	coding	Benign/Likely_benign
17	10535270	T	C	T10535270C	MYH2	NM_017534.6(MYH2):c.2062+8A>G	noncoding	Benign
17	10535367	T	C	T10535367C	MYH2	NM_017534.6(MYH2):c.1975-2A>G	noncoding	Pathogenic
17	10535374	C	G	C10535374G	MYH2	NM_017534.6(MYH2):c.1975-9G>C	noncoding	Benign
17	10535374	C	T	C10535374T	MYH2	NM_017534.6(MYH2):c.1975-9G>A	noncoding	Benign
17	10535412	T	C	T10535412C	MYH2	NM_017534.6(MYH2):c.1975-47A>G	noncoding	Benign
17	10539549	C	T	C10539549T	MYH2	NM_017534.6(MYH2):c.1161G>A:p.Ala387=	coding	Benign
17	10540007	C	G	C10540007G	MYH2	NM_017534.6(MYH2):c.1068G>C:p.Thr356=	coding	Benign
17	10542865	C	T	C10542865T	MYH2	NM_017534.6(MYH2):c.904+10G>A	noncoding	Benign
17	10542874	C	T	C10542874T	MYH2	NM_017534.6(MYH2):c.904+1G>A	noncoding	Pathogenic
17	10542945	G	A	G10542945A	MYH2	NM_017534.6(MYH2):c.834C>T:p.Phe278=	coding	Benign
17	10542968	G	A	G10542968A	MYH2	NM_017534.6(MYH2):c.811C>T:p.Leu271=	coding	Benign
17	10543090	A	T	A10543090T	MYH2	NM_017534.6(MYH2):c.805+8T>A	noncoding	Benign
17	10543191	T	G	T10543191G	MYH2	NM_017534.6(MYH2):c.742-30A>C	noncoding	Benign
17	10543746	C	T	C10543746T	MYH2	NM_017534.6(MYH2):c.706G>A:p.Ala236Thr	coding	Pathogenic
17	10543765	T	C	T10543765C	MYH2	NM_017534.6(MYH2):c.687A>G:p.Leu229=	coding	Benign
17	10544100	G	A	G10544100A	MYH2	NM_017534.6(MYH2):c.533C>T:p.Thr178Ile	coding	Pathogenic
17	10545452	A	T	A10545452T	MYH2	NM_017534.6(MYH2):c.399T>A:p.Pro133=	coding	Benign
17	10547499	T	C	T10547499C	MYH2	NM_017534.6(MYH2):c.324A>G:p.Glu108=	coding	Benign
17	10547738	C	T	C10547738T	MYH2	NM_017534.6(MYH2):c.183G>A:p.Thr61=	coding	Benign
17	10628691	G	C	G10628691C	MYH3	NM_002470.4(MYH3):c.5797-12C>G	noncoding	Benign/Likely_benign
17	10629567	G	A	G10629567A	MYH3	NM_002470.4(MYH3):c.5796+30C>T	noncoding	Benign
17	10630259	A	G	A10630259G	MYH3	NM_002470.4(MYH3):c.5457+29T>C	noncoding	Benign
17	10630285	C	T	C10630285T	MYH3	NM_002470.4(MYH3):c.5457+3G>A	noncoding	Benign
17	10630355	C	T	C10630355T	MYH3	NM_002470.4(MYH3):c.5390G>A:p.Arg1797His	coding	Benign/Likely_benign
17	10631623	C	T	C10631623T	MYH3	NM_002470.4(MYH3):c.5274G>A:p.Lys1758=	coding	Benign/Likely_benign
17	10631643	C	A	C10631643A	MYH3	NM_002470.4(MYH3):c.5254G>T:p.Ala1752Ser	coding	Benign
17	10631643	C	T	C10631643T	MYH3	NM_002470.4(MYH3):c.5254G>A:p.Ala1752Thr	coding	Benign
17	10631864	C	T	C10631864T	MYH3	NM_002470.4(MYH3):c.5109G>A:p.Ala1703=	coding	Benign/Likely_benign
17	10631899	T	C	T10631899C	MYH3	NM_002470.4(MYH3):c.5074A>G:p.Thr1692Ala	coding	Benign/Likely_benign
17	10631906	C	A	C10631906A	MYH3	NM_002470.4(MYH3):c.5067G>T:p.Leu1689=	coding	Benign/Likely_benign
17	10632032	C	G	C10632032G	MYH3	NM_002470.4(MYH3):c.4957-16G>C	noncoding	Benign
17	10632444	G	A	G10632444A	MYH3	NM_002470.4(MYH3):c.4956+32C>T	noncoding	Benign
17	10632491	G	A	G10632491A	MYH3	NM_002470.4(MYH3):c.4941C>T:p.Val1647=	coding	Benign/Likely_benign
17	10632620	G	A	G10632620A	MYH3	NM_002470.4(MYH3):c.4812C>T:p.Ala1604=	coding	Benign
17	10632701	G	A	G10632701A	MYH3	NM_002470.4(MYH3):c.4731C>T:p.Ile1577=	coding	Benign
17	10633585	A	C	A10633585C	MYH3	NM_002470.4(MYH3):c.4647+6T>G	noncoding	Benign/Likely_benign
17	10633590	C	T	C10633590T	MYH3	NM_002470.4(MYH3):c.4647+1G>A	noncoding	Pathogenic
17	10633757	G	A	G10633757A	MYH3	NM_002470.4(MYH3):c.4523-42C>T	noncoding	Benign
17	10634088	T	C	T10634088C	MYH3	NM_002470.4(MYH3):c.4451A>G:p.Lys1484Arg	coding	Benign/Likely_benign
17	10634829	G	A	G10634829A	MYH3	NM_002470.4(MYH3):c.4356+11C>T	noncoding	Benign/Likely_benign
17	10635358	G	A	G10635358A	MYH3	NM_002470.4(MYH3):c.4172+9C>T	noncoding	Benign/Likely_benign
17	10635384	T	C	T10635384C	MYH3	NM_002470.4(MYH3):c.4155A>G:p.Glu1385=	coding	Benign
17	10635411	G	A	G10635411A	MYH3	NM_002470.4(MYH3):c.4128C>T:p.Tyr1376=	coding	Benign
17	10635441	A	G	A10635441G	MYH3	NM_002470.4(MYH3):c.4098T>C:p.Asn1366=	coding	Benign/Likely_benign
17	10635457	G	A	G10635457A	MYH3	NM_002470.4(MYH3):c.4082C>T:p.Ala1361Val	coding	Benign/Likely_benign
17	10635772	G	A	G10635772A	MYH3	NM_002470.4(MYH3):c.3938C>T:p.Thr1313Ile	coding	Benign/Likely_benign
17	10637934	G	A	G10637934A	MYH3	NM_002470.4(MYH3):c.3731C>T:p.Ala1244Val	coding	Benign/Likely_benign
17	10638046	A	G	A10638046G	MYH3	NM_002470.4(MYH3):c.3726T>C:p.Ser1242=	coding	Benign
17	10638160	A	G	A10638160G	MYH3	NM_002470.4(MYH3):c.3612T>C:p.Leu1204=	coding	Benign/Likely_benign
17	10638178	C	T	C10638178T	MYH3	NM_002470.4(MYH3):c.3594G>A:p.Ala1198=	coding	Benign/Likely_benign
17	10638180	C	T	C10638180T	MYH3	NM_002470.4(MYH3):c.3592G>A:p.Ala1198Thr	coding	Benign/Likely_benign
17	10638198	C	T	C10638198T	MYH3	NM_002470.4(MYH3):c.3574G>A:p.Ala1192Thr	coding	Benign
17	10638263	G	T	G10638263T	MYH3	NM_002470.4(MYH3):c.3509C>A:p.Ala1170Glu	coding	Benign/Likely_benign
17	10638310	C	T	C10638310T	MYH3	NM_002470.4(MYH3):c.3462G>A:p.Ala1154=	coding	Benign/Likely_benign
17	10638327	C	G	C10638327G	MYH3	NM_002470.4(MYH3):c.3445G>C:p.Glu1149Gln	coding	Benign
17	10638363	G	A	G10638363A	MYH3	NM_002470.4(MYH3):c.3409C>T:p.Arg1137Cys	coding	Benign/Likely_benign
17	10638383	C	T	C10638383T	MYH3	NM_002470.4(MYH3):c.3389G>A:p.Arg1130His	coding	Benign/Likely_benign
17	10638424	A	G	A10638424G	MYH3	NM_002470.4(MYH3):c.3348T>C:p.Ile1116=	coding	Benign
17	10638933	G	A	G10638933A	MYH3	NM_002470.4(MYH3):c.3279C>T:p.Ser1093=	coding	Benign
17	10639068	T	G	T10639068G	MYH3	NM_002470.4(MYH3):c.3224A>C:p.Gln1075Pro	coding	Pathogenic
17	10639154	T	G	T10639154G	MYH3	NM_002470.4(MYH3):c.3138A>C:p.Arg1046=	coding	Benign
17	10639322	G	A	G10639322A	MYH3	NM_002470.4(MYH3):c.3078C>T:p.Ser1026=	coding	Benign/Likely_benign
17	10639361	A	G	A10639361G	MYH3	NM_002470.4(MYH3):c.3039T>C:p.Ala1013=	coding	Benign/Likely_benign
17	10639391	C	T	C10639391T	MYH3	NM_002470.4(MYH3):c.3009G>A:p.Ala1003=	coding	Benign
17	10639392	G	A	G10639392A	MYH3	NM_002470.4(MYH3):c.3008C>T:p.Ala1003Val	coding	Benign
17	10639448	A	G	A10639448G	MYH3	NM_002470.4(MYH3):c.2952T>C:p.Ser984=	coding	Benign
17	10639482	G	A	G10639482A	MYH3	NM_002470.4(MYH3):c.2926-8C>T	noncoding	Benign/Likely_benign
17	10639486	T	C	T10639486C	MYH3	NM_002470.4(MYH3):c.2926-12A>G	noncoding	Benign
17	10639569	T	C	T10639569C	MYH3	NM_002470.4(MYH3):c.2916A>G:p.Thr972=	coding	Benign
17	10639602	G	T	G10639602T	MYH3	NM_002470.4(MYH3):c.2883C>A:p.Thr961=	coding	Benign/Likely_benign
17	10639806	A	G	A10639806G	MYH3	NM_002470.4(MYH3):c.2683-4T>C	noncoding	Benign/Likely_benign
17	10640068	T	C	T10640068C	MYH3	NM_002470.4(MYH3):c.2610A>G:p.Lys870=	coding	Benign
17	10640146	T	C	T10640146C	MYH3	NM_002470.4(MYH3):c.2532A>G:p.Ala844=	coding	Benign
17	10640204	A	T	A10640204T	MYH3	NM_002470.4(MYH3):c.2474T>A:p.Val825Asp	coding	Pathogenic
17	10640559	T	C	T10640559C	MYH3	NM_002470.4(MYH3):c.2289+4A>G	noncoding	Benign/Likely_benign
17	10640701	T	C	T10640701C	MYH3	NM_002470.4(MYH3):c.2166-15A>G	noncoding	Benign
17	10641099	G	T	G10641099T	MYH3	NM_002470.4(MYH3):c.2151C>A:p.Gly717=	coding	Benign
17	10641144	G	A	G10641144A	MYH3	NM_002470.4(MYH3):c.2106C>T:p.Gly702=	coding	Benign
17	10641317	C	T	C10641317T	MYH3	NM_002470.4(MYH3):c.2015G>A:p.Arg672His	coding	Pathogenic
17	10641318	G	A	G10641318A	MYH3	NM_002470.4(MYH3):c.2014C>T:p.Arg672Cys	coding	Pathogenic
17	10642267	G	A	G10642267A	MYH3	NM_002470.4(MYH3):c.1932C>T:p.Ser644=	coding	Benign/Likely_benign
17	10642557	T	G	T10642557G	MYH3	NM_002470.4(MYH3):c.1748A>C:p.Tyr583Ser	coding	Pathogenic
17	10642583	G	A	G10642583A	MYH3	NM_002470.4(MYH3):c.1722C>T:p.Ala574=	coding	Benign
17	10642813	T	G	T10642813G	MYH3	NM_002470.4(MYH3):c.1581+13A>C	noncoding	Benign
17	10642832	G	A	G10642832A	MYH3	NM_002470.4(MYH3):c.1575C>T:p.Ile525=	coding	Benign
17	10642841	G	T	G10642841T	MYH3	NM_002470.4(MYH3):c.1566C>A:p.Ile522=	coding	Benign/Likely_benign
17	10642886	G	A	G10642886A	MYH3	NM_002470.4(MYH3):c.1521C>T:p.Ile507=	coding	Benign/Likely_benign
17	10642996	A	G	A10642996G	MYH3	NM_002470.4(MYH3):c.1411T>C:p.Tyr471His	coding	Benign/Likely_benign
17	10644684	T	C	T10644684C	MYH3	NM_002470.4(MYH3):c.1160A>G:p.Tyr387Cys	coding	Pathogenic
17	10645675	C	T	C10645675T	MYH3	NM_002470.4(MYH3):c.1141+32G>A	noncoding	Benign
17	10645867	G	A	G10645867A	MYH3	NM_002470.4(MYH3):c.1003-22C>T	noncoding	Benign
17	10646069	G	A	G10646069A	MYH3	NM_002470.4(MYH3):c.899-37C>T	noncoding	Benign
17	10647388	C	T	C10647388T	MYH3	NM_002470.4(MYH3):c.774G>A:p.Lys258=	coding	Benign/Likely_benign
17	10648593	G	A	G10648593A	MYH3	NM_002470.4(MYH3):c.699C>T:p.Asn233=	coding	Benign
17	10648602	G	C	G10648602C	MYH3	NM_002470.4(MYH3):c.690C>G:p.Ala230=	coding	Benign/Likely_benign
17	10649567	C	T	C10649567T	MYH3	NM_002470.4(MYH3):c.642+10G>A	noncoding	Benign/Likely_benign
17	10649729	A	G	A10649729G	MYH3	NM_002470.4(MYH3):c.534-44T>C	noncoding	Benign
17	10650374	G	A	G10650374A	MYH3	NM_002470.4(MYH3):c.533C>T:p.Thr178Ile	coding	Pathogenic
17	10651564	G	A	G10651564A	MYH3	NM_002470.4(MYH3):c.453C>T:p.Ala151=	coding	Benign
17	10651605	C	T	C10651605T	MYH3	NM_002470.4(MYH3):c.412G>A:p.Glu138Lys	coding	Benign/Likely_benign
17	10651642	A	G	A10651642G	MYH3	NM_002470.4(MYH3):c.375T>C:p.Thr125=	coding	Benign
17	10651675	G	A	G10651675A	MYH3	NM_002470.4(MYH3):c.349-7C>T	noncoding	Benign/Likely_benign
17	10651711	G	A	G10651711A	MYH3	NM_002470.4(MYH3):c.349-43C>T	noncoding	Benign
17	10651744	A	G	A10651744G	MYH3	NM_002470.4(MYH3):c.349-76T>C	noncoding	Benign
17	10652516	C	T	C10652516T	MYH3	NM_002470.4(MYH3):c.252G>A:p.Lys84=	coding	Benign/Likely_benign
17	10654924	A	C	A10654924C	MYH3	NM_002470.4(MYH3):c.141T>G:p.Tyr47Ter	coding	Pathogenic
17	10655059	A	G	A10655059G	MYH3	NM_002470.4(MYH3):c.6T>C:p.Ser2=	coding	Benign
17	10656144	C	T	C10656144T	MYH3	NM_002470.4(MYH3):c.-63G>A	noncoding	Benign/Likely_benign
17	10680397	G	C	G10680397C	SCO1	NM_004589.4(SCO1):c.*722C>G	noncoding	Benign
17	10680809	G	A	G10680809A	SCO1	NM_004589.4(SCO1):c.*310C>T	noncoding	Benign/Likely_benign
17	10680847	A	G	A10680847G	SCO1	NM_004589.4(SCO1):c.*272T>C	noncoding	Benign/Likely_benign
17	10686745	G	A	G10686745A	SCO1	NM_004589.4(SCO1):c.753C>T:p.Asp251=	coding	Benign
17	10691707	C	T	C10691707T	SCO1	NM_004589.4(SCO1):c.655+165G>A	noncoding	Benign
17	10691933	T	C	T10691933C	SCO1	NM_004589.4(SCO1):c.594A>G:p.Pro198=	coding	Benign/Likely_benign
17	10692805	G	A	G10692805A	SCO1	NM_004589.4(SCO1):c.521C>T:p.Pro174Leu	coding	Pathogenic
17	10692932	C	T	C10692932T	SCO1	NM_004589.4(SCO1):c.394G>A:p.Gly132Ser	coding	Pathogenic
17	10693063	G	A	G10693063A	SCO1	NM_004589.4(SCO1):c.365-102C>T	noncoding	Benign
17	10695497	A	G	A10695497G	SCO1	NM_004589.4(SCO1):c.364+244T>C	noncoding	Benign
17	10695808	T	C	T10695808C	SCO1	NM_004589.4(SCO1):c.297A>G:p.Ala99=	coding	Benign/Likely_benign
17	10695987	T	C	T10695987C	SCO1	NM_004589.4(SCO1):c.274-156A>G	noncoding	Benign
17	10697116	G	A	G10697116A	SCO1	NM_004589.4(SCO1):c.273+119C>T	noncoding	Benign
17	10697336	G	A	G10697336A	SCO1	NM_004589.4(SCO1):c.172C>T:p.Pro58Ser	coding	Benign/Likely_benign
17	10725047	C	T	C10725047T	TMEM220	NM_001004313.3(TMEM220):c.251G>A:p.Arg84His	coding	Benign
17	11608140	C	T	C11608140T	DNAH9	NM_001372.4(DNAH9):c.429C>T:p.Pro143=	coding	Benign
17	11629470	C	T	C11629470T	DNAH9	NM_001372.4(DNAH9):c.1404C>T:p.Ser468=	coding	Benign
17	11629518	A	G	A11629518G	DNAH9	NM_001372.4(DNAH9):c.1452A>G:p.Glu484=	coding	Benign
17	11640279	C	T	C11640279T	DNAH9	NM_001372.4(DNAH9):c.1796C>T:p.Pro599Leu	coding	Benign
17	11640293	A	G	A11640293G	DNAH9	NM_001372.4(DNAH9):c.1810A>G:p.Met604Val	coding	Benign
17	11644703	A	G	A11644703G	DNAH9	NM_001372.4(DNAH9):c.1970+4A>G	noncoding	Pathogenic
17	11647096	T	C	T11647096C	DNAH9	NM_001372.4(DNAH9):c.1995T>C:p.Asp665=	coding	Benign
17	11647104	G	A	G11647104A	DNAH9	NM_001372.4(DNAH9):c.2003G>A:p.Arg668Gln	coding	Benign
17	11652926	A	G	A11652926G	DNAH9	NM_001372.4(DNAH9):c.2519A>G:p.Asp840Gly	coding	Benign
17	11669410	G	A	G11669410A	DNAH9	NM_001372.4(DNAH9):c.2969G>A:p.Arg990His	coding	Benign
17	11669491	A	G	A11669491G	DNAH9	NM_001372.4(DNAH9):c.3050A>G:p.Tyr1017Cys	coding	Benign
17	11679756	G	T	G11679756T	DNAH9	NM_001372.4(DNAH9):c.3354-1G>T	noncoding	Pathogenic
17	11679772	T	C	T11679772C	DNAH9	NM_001372.4(DNAH9):c.3369T>C:p.Asp1123=	coding	Benign
17	11679875	C	T	C11679875T	DNAH9	NM_001372.4(DNAH9):c.3472C>T:p.Arg1158Trp	coding	Benign
17	11679928	G	A	G11679928A	DNAH9	NM_001372.4(DNAH9):c.3525G>A:p.Leu1175=	coding	Benign
17	11680807	A	G	A11680807G	DNAH9	NM_001372.4(DNAH9):c.3661A>G:p.Thr1221Ala	coding	Benign
17	11689611	C	T	C11689611T	DNAH9	NM_001372.4(DNAH9):c.3789C>T:p.Ile1263=	coding	Benign
17	11690140	C	T	C11690140T	DNAH9	NM_001372.4(DNAH9):c.4318C>T:p.Leu1440=	coding	Benign
17	11690340	C	T	C11690340T	DNAH9	NM_001372.4(DNAH9):c.4518C>T:p.Asp1506=	coding	Benign
17	11694402	C	G	C11694402G	DNAH9	NM_001372.4(DNAH9):c.4827C>G:p.Ser1609=	coding	Benign
17	11745015	C	T	C11745015T	DNAH9	NM_001372.4(DNAH9):c.6330C>T:p.Asn2110=	coding	Benign
17	11747740	A	G	A11747740G	DNAH9	NM_001372.4(DNAH9):c.6584A>G:p.Asn2195Ser	coding	Benign
17	11757643	A	G	A11757643G	DNAH9	NM_001372.4(DNAH9):c.6946A>G:p.Ile2316Val	coding	Benign
17	11769290	G	T	G11769290T	DNAH9	NM_001372.4(DNAH9):c.7513G>T:p.Val2505Leu	coding	Benign
17	11797624	C	T	C11797624T	DNAH9	NM_001372.4(DNAH9):c.8251C>T:p.Gln2751Ter	coding	Pathogenic
17	11810260	C	T	C11810260T	DNAH9	NM_001372.4(DNAH9):c.8598C>T:p.Ser2866=	coding	Benign
17	11821918	A	G	A11821918G	DNAH9	NM_001372.4(DNAH9):c.8708-2A>G	noncoding	Pathogenic
17	11834624	C	T	C11834624T	DNAH9	NM_001372.4(DNAH9):c.9247-14C>T	noncoding	Benign
17	11834791	G	A	G11834791A	DNAH9	NM_001372.4(DNAH9):c.9400G>A:p.Val3134Ile	coding	Benign
17	11854038	G	A	G11854038A	DNAH9	NM_001372.4(DNAH9):c.9543G>A:p.Pro3181=	coding	Benign
17	11854239	C	G	C11854239G	DNAH9	NM_001372.4(DNAH9):c.9744C>G:p.Pro3248=	coding	Benign
17	11871737	G	T	G11871737T	DNAH9	NM_001372.4(DNAH9):c.10193G>T:p.Arg3398Leu	coding	Pathogenic
17	11875026	C	T	C11875026T	DNAH9	NM_001372.4(DNAH9):c.10320C>T:p.Asn3440=	coding	Benign
17	11883634	T	C	T11883634C	DNAH9	NM_001372.4(DNAH9):c.10855T>C:p.Leu3619=	coding	Benign
17	11883667	G	T	G11883667T	DNAH9	NM_001372.4(DNAH9):c.10888G>T:p.Ala3630Ser	coding	Benign
17	11891841	G	A	G11891841A	DNAH9	NM_001372.4(DNAH9):c.11177G>A:p.Arg3726Gln	coding	Benign
17	11905807	A	G	A11905807G	DNAH9	NM_001372.4(DNAH9):c.11747A>G:p.Gln3916Arg	coding	Benign
17	11929970	A	G	A11929970G	DNAH9	NM_001372.4(DNAH9):c.11982A>G:p.Pro3994=	coding	Benign
17	11930048	G	A	G11930048A	DNAH9	NM_001372.4(DNAH9):c.12060G>A:p.Thr4020=	coding	Benign
17	11932004	C	T	C11932004T	DNAH9	NM_001372.4(DNAH9):c.12106-10C>T	noncoding	Benign
17	11932014	G	A	G11932014A	DNAH9	NM_001372.4(DNAH9):c.12106G>A:p.Asp4036Asn	coding	Benign
17	11933949	G	A	G11933949A	DNAH9	NM_001372.4(DNAH9):c.12367G>A:p.Asp4123Asn	coding	Pathogenic
17	11962145	G	A	G11962145A	DNAH9	NM_001372.4(DNAH9):c.13122G>A:p.Met4374Ile	coding	Benign
17	12717394	G	A	G12717394A	MYOCD	NM_001146312.2(MYOCD):c.226G>A:p.Asp76Asn	coding	Benign
17	12722936	C	T	C12722936T	MYOCD	NM_001146312.2(MYOCD):c.343C>T:p.Arg115Ter	coding	Pathogenic
17	12736168	G	A	G12736168A	MYOCD	NM_001146312.2(MYOCD):c.423G>A:p.Gln141=	coding	Benign
17	12752735	G	A	G12752735A	MYOCD	NM_001146312.2(MYOCD):c.1447G>A:p.Gly483Ser	coding	Benign
17	12756473	C	T	C12756473T	MYOCD	NM_001146312.2(MYOCD):c.2118C>T:p.His706=	coding	Benign
17	12763317	C	T	C12763317T	MYOCD	NM_001146312.2(MYOCD):c.2634C>T:p.Ser878=	coding	Benign
17	12763404	C	G	C12763404G	MYOCD	NM_001146312.2(MYOCD):c.2721C>G:p.Gly907=	coding	Benign
17	12763422	G	A	G12763422A	MYOCD	NM_001146312.2(MYOCD):c.2739G>A:p.Gln913=	coding	Benign
17	12955972	A	G	A12955972G	ARHGAP44	NM_014859.6(ARHGAP44):c.1242A>G:p.Gln414=	coding	Benign
17	12993236	C	T	C12993236T	ELAC2	NM_018127.7(ELAC2):c.2254-191G>A	noncoding	Benign
17	12993810	G	A	G12993810A	ELAC2	NM_018127.7(ELAC2):c.2130C>T:p.Ser710=	coding	Benign
17	12994352	C	T	C12994352T	ELAC2	NM_018127.7(ELAC2):c.2108+73G>A	noncoding	Benign
17	12994978	T	C	T12994978C	ELAC2	NM_018127.7(ELAC2):c.1893A>G:p.Thr631=	coding	Benign
17	12995006	T	A	T12995006A	ELAC2	NM_018127.7(ELAC2):c.1865A>T:p.Glu622Val	coding	Benign
17	12995470	C	G	C12995470G	ELAC2	NM_018127.7(ELAC2):c.1808+233G>C	noncoding	Benign
17	12995946	G	A	G12995946A	ELAC2	NM_018127.7(ELAC2):c.1692C>T:p.Arg564=	coding	Benign/Likely_benign
17	12996585	C	T	C12996585T	ELAC2	NM_018127.7(ELAC2):c.1621G>A:p.Ala541Thr	coding	Benign
17	12996646	T	C	T12996646C	ELAC2	NM_018127.7(ELAC2):c.1560A>G:p.Thr520=	coding	Benign
17	12996647	G	A	G12996647A	ELAC2	NM_018127.7(ELAC2):c.1559C>T:p.Thr520Ile	coding	Pathogenic
17	12998371	G	A	G12998371A	ELAC2	NM_018127.7(ELAC2):c.1520+41C>T	noncoding	Benign
17	12998453	C	G	C12998453G	ELAC2	NM_018127.7(ELAC2):c.1479G>C:p.Pro493=	coding	Benign
17	12998464	A	C	A12998464C	ELAC2	NM_018127.7(ELAC2):c.1468T>G:p.Ser490Ala	coding	Benign
17	12998488	C	A	C12998488A	ELAC2	NM_018127.7(ELAC2):c.1444G>T:p.Glu482Ter	coding	Pathogenic
17	13000190	G	A	G13000190A	ELAC2	NM_018127.7(ELAC2):c.1389C>T:p.Tyr463=	coding	Benign
17	13000282	A	G	A13000282G	ELAC2	NM_018127.7(ELAC2):c.1305-8T>C	noncoding	Benign
17	13000611	C	T	C13000611T	ELAC2	NM_018127.7(ELAC2):c.1305-337G>A	noncoding	Benign
17	13002257	T	A	T13002257A	ELAC2	NM_018127.7(ELAC2):c.1304+17A>T	noncoding	Benign
17	13002311	G	A	G13002311A	ELAC2	NM_018127.7(ELAC2):c.1267C>T:p.Leu423Phe	coding	Pathogenic
17	13002426	G	A	G13002426A	ELAC2	NM_018127.7(ELAC2):c.1218+15C>T	noncoding	Benign
17	13002905	A	G	A13002905G	ELAC2	NM_018127.7(ELAC2):c.1080-326T>C	noncoding	Benign
17	13003407	C	G	C13003407G	ELAC2	NM_018127.7(ELAC2):c.1079+72G>C	noncoding	Benign
17	13003706	G	A	G13003706A	ELAC2	NM_018127.7(ELAC2):c.984-132C>T	noncoding	Benign
17	13003778	G	C	G13003778C	ELAC2	NM_018127.7(ELAC2):c.984-204C>G	noncoding	Benign
17	13003811	A	C	A13003811C	ELAC2	NM_018127.7(ELAC2):c.984-237T>G	noncoding	Benign
17	13003811	A	G	A13003811G	ELAC2	NM_018127.7(ELAC2):c.984-237T>C	noncoding	Benign
17	13004930	T	A	T13004930A	ELAC2	NM_018127.7(ELAC2):c.983+59A>T	noncoding	Benign
17	13005417	T	A	T13005417A	ELAC2	NM_018127.7(ELAC2):c.871-316A>T	noncoding	Benign
17	13005845	C	A	C13005845A	ELAC2	NM_018127.7(ELAC2):c.798-20G>T	noncoding	Benign
17	13005967	T	A	T13005967A	ELAC2	NM_018127.7(ELAC2):c.751A>T:p.Arg251Ter	coding	Pathogenic
17	13011692	G	A	G13011692A	ELAC2	NM_018127.7(ELAC2):c.650C>T:p.Ser217Leu	coding	Benign
17	13013071	C	T	C13013071T	ELAC2	NM_018127.7(ELAC2):c.559+136G>A	noncoding	Benign
17	13013289	A	G	A13013289G	ELAC2	NM_018127.7(ELAC2):c.491-14T>C	noncoding	Benign
17	13014469	A	G	A13014469G	ELAC2	NM_018127.7(ELAC2):c.460T>C:p.Phe154Leu	coding	Pathogenic
17	13014539	G	A	G13014539A	ELAC2	NM_018127.7(ELAC2):c.433-43C>T	noncoding	Benign
17	13014737	C	T	C13014737T	ELAC2	NM_018127.7(ELAC2):c.433-241G>A	noncoding	Benign
17	13014792	A	G	A13014792G	ELAC2	NM_018127.7(ELAC2):c.433-296T>C	noncoding	Benign
17	13014801	A	G	A13014801G	ELAC2	NM_018127.7(ELAC2):c.433-305T>C	noncoding	Benign
17	13015663	G	A	G13015663A	ELAC2	NM_018127.7(ELAC2):c.432+105C>T	noncoding	Benign
17	13015836	A	T	A13015836T	ELAC2	NM_018127.7(ELAC2):c.368-4T>A	noncoding	Benign
17	13016943	A	G	A13016943G	ELAC2	NM_018127.7(ELAC2):c.297-11T>C	noncoding	Benign
17	13017774	C	T	C13017774T	ELAC2	NM_018127.7(ELAC2):c.174G>A:p.Val58=	coding	Benign
17	13017853	G	C	G13017853C	ELAC2	NM_018127.7(ELAC2):c.95C>G:p.Pro32Arg	coding	Benign/Likely_benign
17	13018328	T	C	T13018328C	ELAC2	NC_000017.11:g.13018328T>C	noncoding	Benign
17	13018355	G	A	G13018355A	ELAC2	NC_000017.11:g.13018355G>A	noncoding	Benign
17	14069205	C	T	C14069205T	COX10	NC_000017.11:g.14069205C>T	noncoding	Benign
17	14069494	G	A	G14069494A	COX10	NM_001303.3(COX10):c.-112G>A	noncoding	Benign
17	14069497	G	A	G14069497A	COX10	NM_001303.3(COX10):c.-109G>A	noncoding	Benign/Likely_benign
17	14069543	C	T	C14069543T	COX10	NM_001303.4(COX10):c.-63C>T	noncoding	Benign/Likely_benign
17	14069607	T	C	T14069607C	COX10	NM_001303.4(COX10):c.2T>C:p.Met1Thr	coding	Pathogenic
17	14069638	C	T	C14069638T	COX10	NM_001303.4(COX10):c.33C>T:p.Arg11=	coding	Benign/Likely_benign
17	14069814	T	C	T14069814C	COX10	NM_001303.4(COX10):c.43+166T>C	noncoding	Benign
17	14074145	G	A	G14074145A	COX10	NM_001303.4(COX10):c.44-178G>A	noncoding	Benign
17	14074327	C	T	C14074327T	COX10	NM_001303.4(COX10):c.48C>T:p.Cys16=	coding	Benign
17	14074362	C	T	C14074362T	COX10	NM_001303.4(COX10):c.83C>T:p.Thr28Ile	coding	Benign/Likely_benign
17	14074623	C	T	C14074623T	COX10	NM_001303.4(COX10):c.177+167C>T	noncoding	Benign
17	14076741	A	T	A14076741T	COX10	NM_001303.4(COX10):c.184A>T:p.Thr62Ser	coding	Benign
17	14076847	A	G	A14076847G	COX10	NM_001303.4(COX10):c.290A>G:p.Tyr97Cys	coding	Benign/Likely_benign
17	14077033	G	A	G14077033A	COX10	NM_001303.4(COX10):c.476G>A:p.Arg159Gln	coding	Benign
17	14102122	G	A	G14102122A	COX10	NM_001303.4(COX10):c.504G>A:p.Leu168=	coding	Benign
17	14102205	C	A	C14102205A	COX10	NM_001303.4(COX10):c.587C>A:p.Thr196Lys	coding	Pathogenic
17	14102230	C	A	C14102230A	COX10	NM_001303.4(COX10):c.612C>A:p.Asn204Lys	coding	Pathogenic
17	14102389	A	G	A14102389G	COX10	NM_001303.4(COX10):c.624+147A>G	noncoding	Benign
17	14102409	T	G	T14102409G	COX10	NM_001303.4(COX10):c.624+167T>G	noncoding	Benign
17	14159650	G	T	G14159650T	COX10	NM_001303.4(COX10):c.625-227G>T	noncoding	Benign
17	14159657	G	A	G14159657A	COX10	NM_001303.4(COX10):c.625-220G>A	noncoding	Benign
17	14159926	C	T	C14159926T	COX10	NM_001303.4(COX10):c.674C>T:p.Pro225Leu	coding	Pathogenic
17	14160077	A	C	A14160077C	COX10	NM_001303.4(COX10):c.695+130A>C	noncoding	Benign
17	14191992	A	G	A14191992G	COX10	NM_001303.4(COX10):c.699A>G:p.Pro233=	coding	Benign
17	14192031	G	A	G14192031A	COX10	NM_001303.4(COX10):c.738G>A:p.Pro246=	coding	Benign
17	14192233	G	A	G14192233A	COX10	NM_001303.4(COX10):c.928+12G>A	noncoding	Benign
17	14206724	G	A	G14206724A	COX10	NM_001303.4(COX10):c.929-86G>A	noncoding	Benign
17	14206888	A	G	A14206888G	COX10	NM_001303.4(COX10):c.1007A>G:p.Asp336Gly	coding	Pathogenic
17	14206888	A	T	A14206888T	COX10	NM_001303.4(COX10):c.1007A>T:p.Asp336Val	coding	Pathogenic
17	14206919	G	A	G14206919A	COX10	NM_001303.4(COX10):c.1038G>A:p.Ser346=	coding	Benign/Likely_benign
17	14207074	G	A	G14207074A	COX10	NM_001303.4(COX10):c.1193G>A:p.Arg398His	coding	Benign
17	14207510	G	A	G14207510A	COX10	NM_001303.4(COX10):c.*297G>A	noncoding	Benign
17	14207535	T	C	T14207535C	COX10	NM_001303.4(COX10):c.*322T>C	noncoding	Benign
17	14207584	A	G	A14207584G	COX10	NM_001303.4(COX10):c.*371A>G	noncoding	Benign
17	14207651	G	C	G14207651C	COX10	NM_001303.4(COX10):c.*438G>C	noncoding	Benign/Likely_benign
17	14207859	C	A	C14207859A	COX10	NM_001303.4(COX10):c.*646C>A	noncoding	Benign
17	14207970	T	C	T14207970C	COX10	NM_001303.4(COX10):c.*757T>C	noncoding	Benign
17	14208187	C	A	C14208187A	COX10	NM_001303.4(COX10):c.*974C>A	noncoding	Benign/Likely_benign
17	14208289	T	C	T14208289C	COX10	NM_001303.4(COX10):c.*1076T>C	noncoding	Benign
17	14208291	C	T	C14208291T	COX10	NM_001303.4(COX10):c.*1078C>T	noncoding	Benign
17	14208314	C	T	C14208314T	COX10	NM_001303.4(COX10):c.*1101C>T	noncoding	Benign/Likely_benign
17	14208537	C	T	C14208537T	COX10	NM_001303.4(COX10):c.*1324C>T	noncoding	Benign/Likely_benign
17	14208598	C	T	C14208598T	COX10	NM_001303.4(COX10):c.*1385C>T	noncoding	Benign
17	14301551	C	T	C14301551T	HS3ST3B1	NM_006041.3(HS3ST3B1):c.33C>T:p.Cys11=	coding	Benign
17	14301571	T	A	T14301571A	HS3ST3B1	NM_006041.3(HS3ST3B1):c.53T>A:p.Leu18His	coding	Benign
17	14301851	G	A	G14301851A	HS3ST3B1	NM_006041.3(HS3ST3B1):c.333G>A:p.Pro111=	coding	Benign
17	15230005	C	T	C15230005T	PMP22	NM_000304.4(PMP22):c.*912G>A	noncoding	Benign
17	15230027	G	A	G15230027A	PMP22	NM_000304.4(PMP22):c.*890C>T	noncoding	Benign
17	15230541	G	A	G15230541A	PMP22	NM_000304.4(PMP22):c.*376C>T	noncoding	Benign
17	15230717	A	C	A15230717C	PMP22	NM_000304.4(PMP22):c.*200T>G	noncoding	Benign
17	15230744	G	A	G15230744A	PMP22	NM_000304.4(PMP22):c.*173C>T	noncoding	Benign
17	15230858	T	G	T15230858G	PMP22	NM_000304.4(PMP22):c.*59A>C	noncoding	Benign
17	15230951	C	A	C15230951A	PMP22	NM_000304.4(PMP22):c.449G>T:p.Gly150Val	coding	Pathogenic
17	15230951	C	T	C15230951T	PMP22	NM_000304.4(PMP22):c.449G>A:p.Gly150Asp	coding	Pathogenic
17	15230952	C	G	C15230952G	PMP22	NM_000304.4(PMP22):c.448G>C:p.Gly150Arg	coding	Pathogenic/Likely_pathogenic
17	15230953	G	T	G15230953T	PMP22	NM_000304.4(PMP22):c.447C>A:p.Ser149Arg	coding	Pathogenic
17	15230980	C	T	C15230980T	PMP22	NM_000304.4(PMP22):c.420G>A:p.Trp140Ter	coding	Pathogenic/Likely_pathogenic
17	15230997	C	T	C15230997T	PMP22	NM_000304.4(PMP22):c.403G>A:p.Ala135Thr	coding	Benign/Likely_benign
17	15231004	G	A	G15231004A	PMP22	NM_000304.4(PMP22):c.396C>T:p.Tyr132=	coding	Benign
17	15231049	G	T	G15231049T	PMP22	NM_000304.4(PMP22):c.351C>A:p.Tyr117Ter	coding	Pathogenic
17	15231073	G	T	G15231073T	PMP22	NM_000304.4(PMP22):c.327C>A:p.Cys109Ter	coding	Pathogenic
17	15231080	C	A	C15231080A	PMP22	NM_000304.4(PMP22):c.320G>T:p.Gly107Val	coding	Pathogenic
17	15239438	G	A	G15239438A	PMP22	NM_000304.4(PMP22):c.319+33C>T	noncoding	Benign
17	15239483	G	A	G15239483A	PMP22	NM_000304.4(PMP22):c.307C>T:p.Gln103Ter	coding	Pathogenic
17	15239534	G	A	G15239534A	PMP22	NM_000304.4(PMP22):c.256C>T:p.Gln86Ter	coding	Pathogenic
17	15239554	G	C	G15239554C	PMP22	NM_000304.4(PMP22):c.236C>G:p.Ser79Cys	coding	Pathogenic
17	15239575	G	A	G15239575A	PMP22	NM_000304.4(PMP22):c.215C>T:p.Ser72Leu	coding	Pathogenic
17	15239584	A	T	A15239584T	PMP22	NM_000304.4(PMP22):c.206T>A:p.Met69Lys	coding	Pathogenic
17	15239591	C	G	C15239591G	PMP22	NM_000304.4(PMP22):c.199G>C:p.Ala67Pro	coding	Pathogenic/Likely_pathogenic
17	15239613	T	C	T15239613C	PMP22	NM_000304.4(PMP22):c.179-2A>G	noncoding	Pathogenic
17	15239628	C	T	C15239628T	PMP22	NM_000304.4(PMP22):c.179-17G>A	noncoding	Benign
17	15239694	A	G	A15239694G	PMP22	NM_000304.4(PMP22):c.179-83T>C	noncoding	Benign
17	15259072	T	C	T15259072C	PMP22	NM_000304.4(PMP22):c.178+22A>G	noncoding	Benign
17	15259155	C	T	C15259155T	PMP22	NM_000304.4(PMP22):c.117G>A:p.Trp39Ter	coding	Pathogenic
17	15259162	T	A	T15259162A	PMP22	NM_000304.4(PMP22):c.110A>T:p.Asp37Val	coding	Pathogenic
17	15259189	C	T	C15259189T	PMP22	NM_000304.4(PMP22):c.83G>A:p.Trp28Ter	coding	Pathogenic
17	15259190	A	G	A15259190G	PMP22	NM_000304.4(PMP22):c.82T>C:p.Trp28Arg	coding	Pathogenic
17	15259199	G	A	G15259199A	PMP22	NM_000304.4(PMP22):c.79-6C>T	noncoding	Benign/Likely_benign
17	15260663	G	A	G15260663A	PMP22	NM_000304.4(PMP22):c.65C>T:p.Ser22Phe	coding	Pathogenic
17	15260681	A	G	A15260681G	PMP22	NM_000304.4(PMP22):c.47T>C:p.Leu16Pro	coding	Pathogenic
17	15260692	G	T	G15260692T	PMP22	NM_000304.4(PMP22):c.36C>A:p.His12Gln	coding	Pathogenic/Likely_pathogenic
17	15260977	G	A	G15260977A	PMP22	NM_000304.4(PMP22):c.-34-216C>T	noncoding	Benign
17	15261055	G	C	G15261055C	PMP22	NM_000304.4(PMP22):c.-34-294C>G	noncoding	Benign
17	15265193	T	C	T15265193C	PMP22	NM_000304.4(PMP22):c.-74A>G	noncoding	Benign
17	15265205	T	G	T15265205G	PMP22	NM_000304.4(PMP22):c.-86A>C	noncoding	Benign
17	15593413	T	G	T15593413G	CDRT1	NM_006382.4(CDRT1):c.1930A>C:p.Asn644His	coding	Benign
17	15628628	C	A	C15628628A	TRIM16	NM_001348119.1(TRIM16):c.1682G>T:p.Gly561Val	coding	Benign
17	15945352	C	T	C15945352T	ADORA2B	NM_000676.2(ADORA2B):c.104C>T:p.Ala35Val	coding	Benign
17	15945359	T	C	T15945359C	ADORA2B	NM_000676.2(ADORA2B):c.111T>C:p.Thr37=	coding	Benign
17	15974697	G	A	G15974697A	ADORA2B	NM_000676.2(ADORA2B):c.354G>A:p.Thr118=	coding	Benign
17	15975129	T	C	T15975129C	ADORA2B	NM_000676.2(ADORA2B):c.786T>C:p.Ala262=	coding	Benign
17	15999335	T	G	T15999335G	TTC19	NM_001042697.2(ZSWIM7):c.76+184A>C	noncoding	Benign
17	15999502	C	A	C15999502A	TTC19	NM_001042697.2(ZSWIM7):c.76+17G>T	coding	Benign/Likely_benign
17	15999680	C	G	C15999680G	TTC19	NM_001042697.2(ZSWIM7):c.-86G>C	noncoding	Benign/Likely_benign
17	15999807	G	T	G15999807T	TTC19	NM_017775.4(TTC19):c.-42G>T	noncoding	Pathogenic
17	15999834	G	A	G15999834A	TTC19	NM_017775.4(TTC19):c.-15G>A	noncoding	Benign
17	16000127	G	A	G16000127A	TTC19	NM_017775.4(TTC19):c.194G>A:p.Trp65Ter	coding	Pathogenic
17	16000237	C	T	C16000237T	TTC19	NM_017775.4(TTC19):c.304C>T:p.Arg102Ter	coding	Pathogenic
17	16001764	T	C	T16001764C	TTC19	NM_017775.4(TTC19):c.313-151T>C	noncoding	Benign
17	16001788	G	C	G16001788C	TTC19	NM_017775.4(TTC19):c.313-127G>C	noncoding	Benign
17	16002282	G	A	G16002282A	TTC19	NM_017775.4(TTC19):c.423+257G>A	noncoding	Benign
17	16002638	C	T	C16002638T	TTC19	NM_017775.4(TTC19):c.424-155C>T	noncoding	Benign
17	16003077	C	T	C16003077T	TTC19	NM_017775.4(TTC19):c.462+246C>T	noncoding	Benign
17	16003078	T	C	T16003078C	TTC19	NM_017775.4(TTC19):c.462+247T>C	noncoding	Benign
17	16003114	G	A	G16003114A	TTC19	NM_017775.4(TTC19):c.462+283G>A	noncoding	Benign
17	16003572	T	C	T16003572C	TTC19	NM_017775.4(TTC19):c.463-259T>C	noncoding	Benign
17	16003598	G	A	G16003598A	TTC19	NM_017775.4(TTC19):c.463-233G>A	noncoding	Benign
17	16003885	C	T	C16003885T	TTC19	NM_017775.4(TTC19):c.517C>T:p.Gln173Ter	coding	Pathogenic
17	16004235	T	C	T16004235C	TTC19	NM_017775.4(TTC19):c.554T>C:p.Leu185Pro	coding	Pathogenic
17	16004254	G	A	G16004254A	TTC19	NM_017775.4(TTC19):c.573G>A:p.Ala191=	coding	Benign
17	16004450	G	A	G16004450A	TTC19	NM_017775.4(TTC19):c.581+188G>A	noncoding	Benign
17	16006475	C	T	C16006475T	TTC19	NM_017775.4(TTC19):c.583C>T:p.Gln195Ter	coding	Pathogenic
17	16006548	T	G	T16006548G	TTC19	NM_017775.4(TTC19):c.656T>G:p.Leu219Ter	coding	Pathogenic
17	16006674	A	G	A16006674G	TTC19	NM_017775.4(TTC19):c.676+106A>G	noncoding	Benign
17	16006827	T	C	T16006827C	TTC19	NM_017775.4(TTC19):c.676+259T>C	noncoding	Benign
17	16024864	T	C	T16024864C	TTC19	NM_017775.4(TTC19):c.677-153T>C	noncoding	Benign
17	16025157	G	T	G16025157T	TTC19	NM_017775.4(TTC19):c.817G>T:p.Glu273Ter	coding	Pathogenic
17	16025169	C	T	C16025169T	TTC19	NM_017775.4(TTC19):c.829C>T:p.Gln277Ter	coding	Pathogenic
17	16026619	G	C	G16026619C	TTC19	NM_017775.4(TTC19):c.911G>C:p.Arg304Thr	coding	Benign
17	16026819	A	G	A16026819G	TTC19	NM_017775.4(TTC19):c.994+117A>G	noncoding	Benign
17	16027568	T	C	T16027568C	TTC19	NM_017775.4(TTC19):c.*46T>C	noncoding	Benign
17	16028379	G	A	G16028379A	TTC19	NM_017775.4(TTC19):c.*857G>A	noncoding	Benign
17	16028534	T	C	T16028534C	TTC19	NM_017775.4(TTC19):c.*1012T>C	noncoding	Benign
17	16029313	T	C	T16029313C	TTC19	NM_017775.4(TTC19):c.*1791T>C	noncoding	Benign
17	16034826	T	C	T16034826C	NCOR1	NM_006311.4(NCOR1):c.7074A>G:p.Ser2358=	coding	Benign
17	16039518	C	T	C16039518T	NCOR1	NM_006311.4(NCOR1):c.6870G>A:p.Met2290Ile	coding	Benign
17	16047086	C	T	C16047086T	NCOR1	NM_006311.4(NCOR1):c.6544G>A:p.Ala2182Thr	coding	Benign
17	16048913	C	T	C16048913T	NCOR1	NM_006311.4(NCOR1):c.6468G>A:p.Pro2156=	coding	Benign
17	16048985	C	T	C16048985T	NCOR1	NM_006311.4(NCOR1):c.6396G>A:p.Arg2132=	coding	Benign
17	16057910	G	T	G16057910T	NCOR1	NM_006311.4(NCOR1):c.6165C>A:p.Ile2055=	coding	Benign
17	16058511	C	T	C16058511T	NCOR1	NM_006311.4(NCOR1):c.5970G>A:p.Gln1990=	coding	Benign
17	16065573	T	C	T16065573C	NCOR1	NM_006311.4(NCOR1):c.4863A>G:p.Gln1621=	coding	Benign
17	16070349	G	A	G16070349A	NCOR1	NM_006311.4(NCOR1):c.4329C>T:p.Thr1443=	coding	Benign
17	16070460	T	G	T16070460G	NCOR1	NM_006311.4(NCOR1):c.4218A>C:p.Leu1406Phe	coding	Benign
17	16071517	C	T	C16071517T	NCOR1	NM_006311.4(NCOR1):c.4044G>A:p.Gly1348=	coding	Benign
17	16080656	C	T	C16080656T	NCOR1	NM_006311.4(NCOR1):c.3249G>A:p.Val1083=	coding	Benign
17	16098442	G	A	G16098442A	NCOR1	NM_006311.4(NCOR1):c.2745C>T:p.Leu915=	coding	Benign
17	16101427	C	G	C16101427G	NCOR1	NM_006311.4(NCOR1):c.2513G>C:p.Gly838Ala	coding	Benign
17	16139000	T	C	T16139000C	NCOR1	NM_006311.4(NCOR1):c.1352+8A>G	noncoding	Benign
17	16194474	G	A	G16194474A	NCOR1	NM_006311.4(NCOR1):c.96C>T:p.Thr32=	coding	Benign
17	16217286	G	A	G16217286A	PIGL	NM_004278.4(PIGL):c.60G>A:p.Trp20Ter	coding	Pathogenic
17	16313546	G	A	G16313546A	PIGL	NM_004278.4(PIGL):c.427-1G>A	noncoding	Pathogenic
17	16317900	C	T	C16317900T	PIGL	NM_004278.4(PIGL):c.652C>T:p.Gln218Ter	coding	Pathogenic
17	16325918	A	G	A16325918G	PIGL	NM_004278.4(PIGL):c.*20A>G	noncoding	Benign
17	16325984	A	G	A16325984G	PIGL	NM_004278.4(PIGL):c.*86A>G	noncoding	Benign/Likely_benign
17	16326080	A	G	A16326080G	PIGL	NM_004278.4(PIGL):c.*182A>G	noncoding	Benign
17	16326262	G	A	G16326262A	PIGL	NM_004278.4(PIGL):c.*364G>A	noncoding	Benign
17	16353178	G	A	G16353178A	CENPV	NM_181716.3(CENPV):c.259C>T:p.Pro87Ser	coding	Benign
17	16381964	C	T	C16381964T	UBB	NM_018955.4(UBB):c.57C>T:p.Pro19=	coding	Benign
17	16428313	G	A	G16428313A	TRPV2	NM_016113.5(TRPV2):c.1351-4G>A	noncoding	Benign
17	16443931	C	T	C16443931T	LRRC75A	NM_001113567.3(LRRC75A):c.692G>A:p.Arg231His	coding	Benign
17	16939133	C	T	C16939133T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.*414G>A	noncoding	Benign
17	16939598	A	G	A16939598G	TNFRSF13B	NM_012452.3(TNFRSF13B):c.831T>C:p.Ser277=	coding	Benign
17	16939677	G	A	G16939677A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.752C>T:p.Pro251Leu	coding	Benign
17	16939770	A	G	A16939770G	TNFRSF13B	NM_012452.2(TNFRSF13B):c.659T>C:p.Val220Ala	coding	Benign/Likely_benign
17	16940339	G	A	G16940339A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.618C>T:p.Ala206=	coding	Benign
17	16940394	T	A	T16940394A	TNFRSF13B	NM_012452.2(TNFRSF13B):c.563A>T:p.Lys188Met	coding	Benign/Likely_benign
17	16940465	G	C	G16940465C	TNFRSF13B	NM_012452.2(TNFRSF13B):c.492C>G:p.Tyr164Ter	coding	Pathogenic
17	16948713	T	G	T16948713G	TNFRSF13B	NM_012452.2(TNFRSF13B):c.445+25A>C	noncoding	Benign
17	16948752	G	C	G16948752C	TNFRSF13B	NM_012452.2(TNFRSF13B):c.431C>G:p.Ser144Ter	coding	Pathogenic
17	16948752	G	T	G16948752T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.431C>A:p.Ser144Ter	coding	Pathogenic
17	16948768	A	G	A16948768G	TNFRSF13B	NM_012452.3(TNFRSF13B):c.415T>C:p.Leu139=	coding	Benign
17	16948892	A	C	A16948892C	TNFRSF13B	NM_012452.3(TNFRSF13B):c.291T>G:p.Pro97=	coding	Benign/Likely_benign
17	16952447	G	T	G16952447T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.198C>A:p.Cys66Ter	coding	Pathogenic
17	16952564	C	T	C16952564T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.81G>A:p.Thr27=	coding	Benign
17	16972005	G	A	G16972005A	TNFRSF13B	NM_012452.2(TNFRSF13B):c.61+10C>T	noncoding	Benign/Likely_benign
17	16972014	C	A	C16972014A	TNFRSF13B	NM_012452.2(TNFRSF13B):c.61+1G>T	noncoding	Pathogenic
17	16972095	T	C	T16972095C	TNFRSF13B	NM_012452.3(TNFRSF13B):c.-20A>G	noncoding	Benign
17	17143603	T	A	T17143603A	MPRIP	NM_015134.4(MPRIP):c.1083T>A:p.Ala361=	coding	Benign
17	17146026	C	T	C17146026T	MPRIP	NM_015134.4(MPRIP):c.1150-10C>T	noncoding	Benign
17	17174006	G	A	G17174006A	MPRIP	NM_015134.4(MPRIP):c.2520G>A:p.Ala840=	coding	Benign
17	17202965	G	A	G17202965A	PLD6	NM_178836.4(PLD6):c.561C>T:p.Leu187=	coding	Benign
17	17212252	A	G	A17212252G	FLCN	NM_144997.7(FLCN):c.*1403T>C	noncoding	Benign
17	17212319	C	A	C17212319A	FLCN	NM_144997.7(FLCN):c.*1336G>T	noncoding	Benign
17	17213098	A	G	A17213098G	FLCN	NM_144997.7(FLCN):c.*557T>C	noncoding	Benign
17	17213129	A	G	A17213129G	FLCN	NM_144997.7(FLCN):c.*526T>C	noncoding	Benign/Likely_benign
17	17213213	A	G	A17213213G	FLCN	NM_144997.7(FLCN):c.*442T>C	noncoding	Benign
17	17213230	C	T	C17213230T	FLCN	NM_144997.7(FLCN):c.*425G>A	noncoding	Benign
17	17213262	C	T	C17213262T	FLCN	NM_144997.7(FLCN):c.*393G>A	noncoding	Benign
17	17213299	C	A	C17213299A	FLCN	NM_144997.7(FLCN):c.*356G>T	noncoding	Benign
17	17213798	G	A	G17213798A	FLCN	NM_144997.7(FLCN):c.1597C>T:p.Gln533Ter	coding	Pathogenic/Likely_pathogenic
17	17213816	G	A	G17213816A	FLCN	NM_144997.7(FLCN):c.1579C>T:p.Arg527Ter	coding	Pathogenic/Likely_pathogenic
17	17213855	T	A	T17213855A	FLCN	NM_144997.7(FLCN):c.1540A>T:p.Lys514Ter	coding	Pathogenic
17	17214971	A	C	A17214971C	FLCN	NM_144997.7(FLCN):c.1538+14T>G	noncoding	Benign/Likely_benign
17	17214975	T	G	T17214975G	FLCN	NM_144997.7(FLCN):c.1538+10A>C	noncoding	Benign
17	17214990	C	T	C17214990T	FLCN	NM_144997.7(FLCN):c.1533G>A:p.Trp511Ter	coding	Pathogenic
17	17214991	C	T	C17214991T	FLCN	NM_144997.7(FLCN):c.1532G>A:p.Trp511Ter	coding	Pathogenic
17	17215019	G	A	G17215019A	FLCN	NM_144997.7(FLCN):c.1504C>T:p.Gln502Ter	coding	Pathogenic
17	17215059	C	T	C17215059T	FLCN	NM_144997.7(FLCN):c.1464G>A:p.Ala488=	coding	Benign/Likely_benign
17	17215064	C	A	C17215064A	FLCN	NM_144997.7(FLCN):c.1459G>T:p.Glu487Ter	coding	Pathogenic
17	17215092	T	C	T17215092C	FLCN	NM_144997.7(FLCN):c.1433-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	17215128	T	C	T17215128C	FLCN	NM_144997.7(FLCN):c.1433-38A>G	noncoding	Benign
17	17215184	C	T	C17215184T	FLCN	NM_144997.7(FLCN):c.1432+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	17215188	G	A	G17215188A	FLCN	NM_144997.7(FLCN):c.1429C>T:p.Arg477Ter	coding	Pathogenic
17	17215203	G	C	G17215203C	FLCN	NM_144997.7(FLCN):c.1414C>G:p.Pro472Ala	coding	Benign/Likely_benign
17	17215228	G	C	G17215228C	FLCN	NM_144997.7(FLCN):c.1389C>G:p.Tyr463Ter	coding	Pathogenic
17	17215228	G	T	G17215228T	FLCN	NM_144997.7(FLCN):c.1389C>A:p.Tyr463Ter	coding	Pathogenic
17	17215285	G	A	G17215285A	FLCN	NM_144997.7(FLCN):c.1332C>T:p.Ala444=	coding	Benign/Likely_benign
17	17215318	T	C	T17215318C	FLCN	NM_144997.7(FLCN):c.1301-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	17216378	A	C	A17216378C	FLCN	NM_144997.7(FLCN):c.1300+2T>G	noncoding	Pathogenic
17	17216379	C	T	C17216379T	FLCN	NM_144997.7(FLCN):c.1300+1G>A	noncoding	Pathogenic
17	17216380	C	A	C17216380A	FLCN	NM_144997.7(FLCN):c.1300G>T:p.Glu434Ter	coding	Pathogenic
17	17216411	G	A	G17216411A	FLCN	NM_144997.7(FLCN):c.1269C>T:p.His423=	coding	Benign/Likely_benign
17	17216435	G	T	G17216435T	FLCN	NM_144997.7(FLCN):c.1245C>A:p.Cys415Ter	coding	Pathogenic/Likely_pathogenic
17	17216447	C	T	C17216447T	FLCN	NM_144997.7(FLCN):c.1233G>A:p.Glu411=	coding	Benign
17	17216453	G	C	G17216453C	FLCN	NM_144997.7(FLCN):c.1227C>G:p.Tyr409Ter	coding	Pathogenic
17	17216453	G	T	G17216453T	FLCN	NM_144997.7(FLCN):c.1227C>A:p.Tyr409Ter	coding	Pathogenic
17	17216465	G	C	G17216465C	FLCN	NM_144997.7(FLCN):c.1215C>G:p.Tyr405Ter	coding	Pathogenic
17	17216505	T	C	T17216505C	FLCN	NM_144997.7(FLCN):c.1177-2A>G	noncoding	Pathogenic
17	17217038	C	T	C17217038T	FLCN	NM_144997.7(FLCN):c.1176+31G>A	noncoding	Benign
17	17217117	C	T	C17217117T	FLCN	NM_144997.7(FLCN):c.1128G>A:p.Trp376Ter	coding	Pathogenic
17	17217128	G	A	G17217128A	FLCN	NM_144997.7(FLCN):c.1117C>T:p.Gln373Ter	coding	Pathogenic
17	17217147	C	T	C17217147T	FLCN	NM_144997.7(FLCN):c.1098G>A:p.Trp366Ter	coding	Pathogenic
17	17219013	G	A	G17219013A	FLCN	NM_144997.7(FLCN):c.1062+6C>T	noncoding	Benign
17	17219017	A	C	A17219017C	FLCN	NM_144997.7(FLCN):c.1062+2T>G	noncoding	Pathogenic
17	17219017	A	G	A17219017G	FLCN	NM_144997.7(FLCN):c.1062+2T>C	noncoding	Pathogenic
17	17219018	C	T	C17219018T	FLCN	NM_144997.7(FLCN):c.1062+1G>A	noncoding	Pathogenic
17	17219021	G	A	G17219021A	FLCN	NM_144997.7(FLCN):c.1060C>T:p.Gln354Ter	coding	Pathogenic
17	17219122	C	T	C17219122T	FLCN	NM_144997.7(FLCN):c.959G>A:p.Arg320Gln	coding	Benign/Likely_benign
17	17219138	C	A	C17219138A	FLCN	NM_144997.7(FLCN):c.943G>T:p.Glu315Ter	coding	Pathogenic
17	17219162	C	A	C17219162A	FLCN	NM_144997.7(FLCN):c.919G>T:p.Glu307Ter	coding	Pathogenic
17	17219194	G	C	G17219194C	FLCN	NM_144997.7(FLCN):c.887C>G:p.Ser296Ter	coding	Pathogenic
17	17219206	A	C	A17219206C	FLCN	NM_144997.7(FLCN):c.875T>G:p.Leu292Ter	coding	Pathogenic
17	17219222	T	C	T17219222C	FLCN	NM_144997.7(FLCN):c.872-13A>G	noncoding	Benign
17	17221501	C	T	C17221501T	FLCN	NM_144997.7(FLCN):c.871+36G>A	coding	Benign
17	17221555	G	A	G17221555A	FLCN	NM_144997.7(FLCN):c.853C>T:p.Gln285Ter	coding	Pathogenic
17	17221570	C	A	C17221570A	FLCN	NM_144997.7(FLCN):c.838G>T:p.Glu280Ter	coding	Pathogenic
17	17221628	C	T	C17221628T	FLCN	NM_144997.7(FLCN):c.780G>A:p.Trp260Ter	coding	Pathogenic
17	17221629	C	A	C17221629A	FLCN	NM_144997.7(FLCN):c.780-1G>T	coding	Pathogenic/Likely_pathogenic
17	17221630	T	C	T17221630C	FLCN	NM_144997.7(FLCN):c.780-2A>G	noncoding	Pathogenic
17	17222492	G	A	G17222492A	FLCN	NM_144997.7(FLCN):c.779+9C>T	noncoding	Benign
17	17222500	C	A	C17222500A	FLCN	NM_144997.7(FLCN):c.779+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	17222500	C	G	C17222500G	FLCN	NM_144997.7(FLCN):c.779+1G>C	noncoding	Pathogenic
17	17222501	C	T	C17222501T	FLCN	NM_144997.7(FLCN):c.779G>A:p.Trp260Ter	coding	Pathogenic
17	17222528	C	T	C17222528T	FLCN	NM_144997.7(FLCN):c.752G>A:p.Trp251Ter	coding	Pathogenic
17	17222545	T	G	T17222545G	FLCN	NM_144997.7(FLCN):c.735A>C:p.Thr245=	coding	Benign/Likely_benign
17	17222554	T	A	T17222554A	FLCN	NM_144997.7(FLCN):c.726A>T:p.Thr242=	coding	Benign
17	17222631	G	A	G17222631A	FLCN	NM_144997.7(FLCN):c.649C>T:p.Gln217Ter	coding	Pathogenic
17	17222646	G	A	G17222646A	FLCN	NM_144997.7(FLCN):c.634C>T:p.Gln212Ter	coding	Pathogenic
17	17222662	C	T	C17222662T	FLCN	NM_144997.7(FLCN):c.619-1G>A	coding	Pathogenic
17	17223957	C	A	C17223957A	FLCN	NM_144997.7(FLCN):c.583G>T:p.Gly195Ter	coding	Pathogenic
17	17223983	C	T	C17223983T	FLCN	NM_144997.7(FLCN):c.557G>A:p.Trp186Ter	coding	Pathogenic
17	17224030	G	T	G17224030T	FLCN	NM_144997.7(FLCN):c.510C>A:p.Tyr170Ter	coding	Pathogenic
17	17224033	C	T	C17224033T	FLCN	NM_144997.7(FLCN):c.507G>A:p.Trp169Ter	coding	Pathogenic
17	17224041	G	A	G17224041A	FLCN	NM_144997.7(FLCN):c.499C>T:p.Gln167Ter	coding	Pathogenic
17	17224090	A	G	A17224090G	FLCN	NM_144997.7(FLCN):c.450T>C:p.Phe150=	coding	Benign/Likely_benign
17	17224128	C	A	C17224128A	FLCN	NM_144997.7(FLCN):c.412G>T:p.Glu138Ter	coding	Pathogenic
17	17224156	C	T	C17224156T	FLCN	NM_144997.7(FLCN):c.397-13G>A	noncoding	Benign
17	17224157	G	A	G17224157A	FLCN	NM_144997.7(FLCN):c.397-14C>T	noncoding	Benign
17	17226117	A	G	A17226117G	FLCN	NM_144997.7(FLCN):c.396+59T>C	noncoding	Benign
17	17226226	G	A	G17226226A	FLCN	NM_144997.7(FLCN):c.346C>T:p.Gln116Ter	coding	Pathogenic
17	17226271	C	A	C17226271A	FLCN	NM_144997.7(FLCN):c.301G>T:p.Glu101Ter	coding	Pathogenic
17	17226323	C	T	C17226323T	FLCN	NM_144997.7(FLCN):c.250-1G>A	coding	Pathogenic
17	17226324	T	C	T17226324C	FLCN	NM_144997.7(FLCN):c.250-2A>G	noncoding	Pathogenic
17	17227902	G	C	G17227902C	FLCN	NM_144997.7(FLCN):c.236C>G:p.Ser79Trp	coding	Pathogenic
17	17228017	G	A	G17228017A	FLCN	NM_144997.7(FLCN):c.121C>T:p.Gln41Ter	coding	Pathogenic
17	17228063	C	T	C17228063T	FLCN	NM_144997.7(FLCN):c.75G>A:p.Leu25=	coding	Benign/Likely_benign
17	17228105	G	T	G17228105T	FLCN	NM_144997.7(FLCN):c.33C>A:p.Cys11Ter	coding	Pathogenic
17	17231847	C	G	C17231847G	FLCN	NM_144997.7(FLCN):c.-78G>C	noncoding	Benign
17	17231859	T	C	T17231859C	FLCN	NM_144997.7(FLCN):c.-90A>G	noncoding	Benign
17	17231862	G	A	G17231862A	FLCN	NM_144997.7(FLCN):c.-93C>T	noncoding	Benign
17	17231866	G	A	G17231866A	FLCN	NM_144997.7(FLCN):c.-97C>T	noncoding	Benign
17	17232808	G	A	G17232808A	FLCN	NM_144997.7(FLCN):c.-134C>T	noncoding	Benign
17	17232850	C	T	C17232850T	FLCN	NM_144997.7(FLCN):c.-176G>A	noncoding	Benign/Likely_benign
17	17236983	G	A	G17236983A	FLCN	NM_144997.7(FLCN):c.-299C>T	noncoding	Benign
17	17236986	C	T	C17236986T	FLCN	NM_144997.7(FLCN):c.-302G>A	noncoding	Benign
17	17237164	C	G	C17237164G	FLCN	NM_144997.7(FLCN):c.-480G>C	noncoding	Benign/Likely_benign
17	17237171	C	G	C17237171G	FLCN	NM_144997.6(FLCN):c.-487G>C	noncoding	Benign
17	17281181	C	T	C17281181T	COPS3	NM_003653.4(COPS3):c.6G>A:p.Ala2=	coding	Benign
17	17522370	C	T	C17522370T	PEMT	NM_148172.3(PEMT):c.230G>A:p.Arg77His	coding	Benign
17	17793086	C	T	C17793086T	RAI1	NM_030665.4(RAI1):c.138C>T:p.Leu46=	coding	Benign
17	17793101	T	A	T17793101A	RAI1	NM_030665.4(RAI1):c.153T>A:p.Tyr51Ter	coding	Pathogenic
17	17793162	G	A	G17793162A	RAI1	NM_030665.4(RAI1):c.214G>A:p.Ala72Thr	coding	Benign/Likely_benign
17	17793212	G	A	G17793212A	RAI1	NM_030665.4(RAI1):c.264G>A:p.Gln88=	coding	Benign
17	17793217	G	C	G17793217C	RAI1	NM_030665.4(RAI1):c.269G>C:p.Gly90Ala	coding	Benign
17	17793249	G	A	G17793249A	RAI1	NM_030665.4(RAI1):c.301G>A:p.Gly101Ser	coding	Benign
17	17793441	C	A	C17793441A	RAI1	NM_030665.4(RAI1):c.493C>A:p.Pro165Thr	coding	Benign
17	17793534	G	A	G17793534A	RAI1	NM_030665.4(RAI1):c.586G>A:p.Asp196Asn	coding	Benign
17	17793558	C	T	C17793558T	RAI1	NM_030665.4(RAI1):c.610C>T:p.Pro204Ser	coding	Benign/Likely_benign
17	17793673	C	T	C17793673T	RAI1	NM_030665.4(RAI1):c.725C>T:p.Pro242Leu	coding	Benign/Likely_benign
17	17793705	G	A	G17793705A	RAI1	NM_030665.4(RAI1):c.757G>A:p.Ala253Thr	coding	Benign
17	17793785	G	A	G17793785A	RAI1	NM_030665.4(RAI1):c.837G>A:p.Gln279=	coding	Benign
17	17793788	G	A	G17793788A	RAI1	NM_030665.4(RAI1):c.840G>A:p.Gln280=	coding	Benign
17	17793795	C	T	C17793795T	RAI1	NM_030665.4(RAI1):c.847C>T:p.Gln283Ter	coding	Pathogenic
17	17793920	G	A	G17793920A	RAI1	NM_030665.4(RAI1):c.972G>A:p.Pro324=	coding	Benign
17	17793992	C	T	C17793992T	RAI1	NM_030665.4(RAI1):c.1044C>T:p.Arg348=	coding	Benign
17	17794090	C	T	C17794090T	RAI1	NM_030665.4(RAI1):c.1142C>T:p.Ala381Val	coding	Benign
17	17794227	C	T	C17794227T	RAI1	NM_030665.4(RAI1):c.1279C>T:p.Leu427=	coding	Benign/Likely_benign
17	17794274	G	A	G17794274A	RAI1	NM_030665.4(RAI1):c.1326G>A:p.Val442=	coding	Benign
17	17794296	C	T	C17794296T	RAI1	NM_030665.4(RAI1):c.1348C>T:p.Gln450Ter	coding	Pathogenic
17	17794448	G	A	G17794448A	RAI1	NM_030665.4(RAI1):c.1500G>A:p.Pro500=	coding	Benign
17	17794775	C	T	C17794775T	RAI1	NM_030665.4(RAI1):c.1827C>T:p.Ser609=	coding	Benign
17	17794842	C	T	C17794842T	RAI1	NM_030665.4(RAI1):c.1894C>T:p.Leu632=	coding	Benign
17	17794940	G	A	G17794940A	RAI1	NM_030665.4(RAI1):c.1992G>A:p.Pro664=	coding	Benign
17	17795221	G	A	G17795221A	RAI1	NM_030665.4(RAI1):c.2273G>A:p.Trp758Ter	coding	Pathogenic
17	17795223	G	T	G17795223T	RAI1	NM_030665.4(RAI1):c.2275G>T:p.Gly759Ter	coding	Pathogenic
17	17795561	C	A	C17795561A	RAI1	NM_030665.4(RAI1):c.2613C>A:p.Tyr871Ter	coding	Pathogenic
17	17795676	T	G	T17795676G	RAI1	NM_030665.4(RAI1):c.2728T>G:p.Ser910Ala	coding	Benign/Likely_benign
17	17795855	C	T	C17795855T	RAI1	NM_030665.4(RAI1):c.2907C>T:p.Asp969=	coding	Benign/Likely_benign
17	17796229	C	A	C17796229A	RAI1	NM_030665.4(RAI1):c.3281C>A:p.Ser1094Ter	coding	Pathogenic
17	17796305	C	T	C17796305T	RAI1	NM_030665.4(RAI1):c.3357C>T:p.Ser1119=	coding	Benign/Likely_benign
17	17796346	C	G	C17796346G	RAI1	NM_030665.4(RAI1):c.3398C>G:p.Ser1133Ter	coding	Pathogenic
17	17796531	A	T	A17796531T	RAI1	NM_030665.4(RAI1):c.3583A>T:p.Lys1195Ter	coding	Pathogenic
17	17796598	G	A	G17796598A	RAI1	NM_030665.4(RAI1):c.3650G>A:p.Arg1217Gln	coding	Benign/Likely_benign
17	17796739	A	G	A17796739G	RAI1	NM_030665.4(RAI1):c.3791A>G:p.Glu1264Gly	coding	Benign
17	17797199	A	G	A17797199G	RAI1	NM_030665.4(RAI1):c.4251A>G:p.Lys1417=	coding	Benign
17	17797243	C	T	C17797243T	RAI1	NM_030665.4(RAI1):c.4295C>T:p.Pro1432Leu	coding	Benign/Likely_benign
17	17797259	T	C	T17797259C	RAI1	NM_030665.4(RAI1):c.4311T>C:p.Pro1437=	coding	Benign
17	17797380	C	T	C17797380T	RAI1	NM_030665.4(RAI1):c.4432C>T:p.Arg1478Ter	coding	Pathogenic
17	17797386	A	G	A17797386G	RAI1	NM_030665.4(RAI1):c.4438A>G:p.Arg1480Gly	coding	Benign
17	17797460	G	T	G17797460T	RAI1	NM_030665.4(RAI1):c.4512G>T:p.Leu1504=	coding	Benign
17	17797474	A	G	A17797474G	RAI1	NM_030665.4(RAI1):c.4526A>G:p.Gln1509Arg	coding	Benign/Likely_benign
17	17797478	C	T	C17797478T	RAI1	NM_030665.4(RAI1):c.4530C>T:p.Pro1510=	coding	Benign
17	17797626	C	T	C17797626T	RAI1	NM_030665.4(RAI1):c.4678C>T:p.Arg1560Ter	coding	Pathogenic
17	17797629	C	T	C17797629T	RAI1	NM_030665.4(RAI1):c.4681C>T:p.Arg1561Ter	coding	Pathogenic
17	17797633	A	G	A17797633G	RAI1	NM_030665.4(RAI1):c.4685A>G:p.Gln1562Arg	coding	Pathogenic
17	17797928	G	T	G17797928T	RAI1	NM_030665.4(RAI1):c.4980G>T:p.Pro1660=	coding	Benign
17	17798027	G	A	G17798027A	RAI1	NM_030665.4(RAI1):c.5079G>A:p.Pro1693=	coding	Benign
17	17803791	T	C	T17803791C	RAI1	NM_030665.4(RAI1):c.5601T>C:p.Ile1867=	coding	Benign
17	17812861	C	T	C17812861T	SREBF1	NM_001005291.3(SREBF1):c.3305-10G>A	noncoding	Benign
17	17817273	A	G	A17817273G	SREBF1	NM_001005291.3(SREBF1):c.1679T>C:p.Leu560Pro	coding	Pathogenic
17	17817282	C	T	C17817282T	SREBF1	NM_001005291.3(SREBF1):c.1670G>A:p.Arg557His	coding	Pathogenic
17	17817283	G	A	G17817283A	SREBF1	NM_001005291.3(SREBF1):c.1669C>T:p.Arg557Cys	coding	Pathogenic
17	17817851	C	T	C17817851T	SREBF1	NM_001005291.3(SREBF1):c.1339G>A:p.Val447Met	coding	Benign
17	17819189	C	T	C17819189T	SREBF1	NM_001005291.3(SREBF1):c.982G>A:p.Val328Ile	coding	Benign
17	18018093	A	G	A18018093G	ATPAF2	NM_145691.4(ATPAF2):c.*456T>C	noncoding	Benign
17	18018384	G	A	G18018384A	ATPAF2	NM_145691.4(ATPAF2):c.*165C>T	noncoding	Benign
17	18018419	A	G	A18018419G	ATPAF2	NM_145691.4(ATPAF2):c.*130T>C	noncoding	Benign
17	18018529	G	C	G18018529C	ATPAF2	NM_145691.4(ATPAF2):c.*20C>G	noncoding	Benign
17	18018681	C	T	C18018681T	ATPAF2	NM_145691.4(ATPAF2):c.738G>A:p.Gln246=	coding	Benign
17	18021133	T	C	T18021133C	ATPAF2	NM_145691.4(ATPAF2):c.722A>G:p.Glu241Gly	coding	Benign
17	18021156	G	A	G18021156A	ATPAF2	NM_145691.4(ATPAF2):c.699C>T:p.Ala233=	coding	Benign/Likely_benign
17	18021508	A	C	A18021508C	ATPAF2	NM_145691.4(ATPAF2):c.616+237T>G	noncoding	Benign
17	18021554	A	G	A18021554G	ATPAF2	NM_145691.4(ATPAF2):c.616+191T>C	noncoding	Benign
17	18021642	T	C	T18021642C	ATPAF2	NM_145691.4(ATPAF2):c.616+103A>G	noncoding	Benign
17	18021850	C	T	C18021850T	ATPAF2	NM_145691.4(ATPAF2):c.511G>A:p.Val171Met	coding	Benign/Likely_benign
17	18026113	A	T	A18026113T	ATPAF2	NM_145691.4(ATPAF2):c.422+206T>A	noncoding	Benign
17	18028276	A	T	A18028276T	ATPAF2	NM_145691.4(ATPAF2):c.280T>A:p.Trp94Arg	coding	Pathogenic
17	18038979	C	T	C18038979T	ATPAF2	NM_145691.4(ATPAF2):c.35G>A:p.Gly12Glu	coding	Benign
17	18039160	C	T	C18039160T	ATPAF2	NM_145691.4(ATPAF2):c.-147G>A	noncoding	Benign
17	18100605	G	A	G18100605A	DRG2	NM_001388.5(DRG2):c.577G>A:p.Val193Ile	coding	Benign
17	18101548	C	T	C18101548T	DRG2	NM_001388.5(DRG2):c.687C>T:p.Ile229=	coding	Benign
17	18107222	C	T	C18107222T	DRG2	NM_001388.5(DRG2):c.1077C>T:p.Ile359=	coding	Benign
17	18118568	T	C	T18118568C	MYO15A	NM_016239.4(MYO15A):c.-219-14T>C	noncoding	Benign
17	18118725	A	C	A18118725C	MYO15A	NM_016239.4(MYO15A):c.-76A>C	noncoding	Benign
17	18119277	G	A	G18119277A	MYO15A	NM_016239.4(MYO15A):c.477G>A:p.Trp159Ter	coding	Pathogenic
17	18119288	C	A	C18119288A	MYO15A	NM_016239.4(MYO15A):c.488C>A:p.Ser163Ter	coding	Pathogenic
17	18119349	T	C	T18119349C	MYO15A	NM_016239.4(MYO15A):c.549T>C:p.Pro183=	coding	Benign/Likely_benign
17	18119405	C	A	C18119405A	MYO15A	NM_016239.4(MYO15A):c.605C>A:p.Pro202His	coding	Pathogenic
17	18119425	G	T	G18119425T	MYO15A	NM_016239.4(MYO15A):c.625G>T:p.Glu209Ter	coding	Pathogenic
17	18119542	C	G	C18119542G	MYO15A	NM_016239.4(MYO15A):c.742C>G:p.Arg248Gly	coding	Pathogenic
17	18119796	C	G	C18119796G	MYO15A	NM_016239.4(MYO15A):c.996C>G:p.Tyr332Ter	coding	Pathogenic
17	18120023	C	T	C18120023T	MYO15A	NM_016239.4(MYO15A):c.1223C>T:p.Ala408Val	coding	Pathogenic
17	18120185	G	A	G18120185A	MYO15A	NM_016239.4(MYO15A):c.1385G>A:p.Gly462Asp	coding	Benign/Likely_benign
17	18120415	C	T	C18120415T	MYO15A	NM_016239.4(MYO15A):c.1615C>T:p.Gln539Ter	coding	Pathogenic
17	18120583	G	A	G18120583A	MYO15A	NM_016239.4(MYO15A):c.1783G>A:p.Ala595Thr	coding	Benign
17	18120591	G	A	G18120591A	MYO15A	NM_016239.4(MYO15A):c.1791G>A:p.Ala597=	coding	Benign/Likely_benign
17	18120699	A	G	A18120699G	MYO15A	NM_016239.4(MYO15A):c.1899A>G:p.Pro633=	coding	Benign
17	18120741	A	C	A18120741C	MYO15A	NM_016239.4(MYO15A):c.1941A>C:p.Pro647=	coding	Benign/Likely_benign
17	18120828	C	A	C18120828A	MYO15A	NM_016239.4(MYO15A):c.2028C>A:p.Pro676=	coding	Benign/Likely_benign
17	18120952	T	G	T18120952G	MYO15A	NM_016239.4(MYO15A):c.2152T>G:p.Trp718Gly	coding	Benign
17	18121038	G	T	G18121038T	MYO15A	NM_016239.4(MYO15A):c.2238G>T:p.Arg746Ser	coding	Benign/Likely_benign
17	18121429	G	T	G18121429T	MYO15A	NM_016239.4(MYO15A):c.2629G>T:p.Glu877Ter	coding	Pathogenic
17	18122113	G	T	G18122113T	MYO15A	NM_016239.4(MYO15A):c.3313G>T:p.Glu1105Ter	coding	Pathogenic
17	18122185	C	T	C18122185T	MYO15A	NM_016239.4(MYO15A):c.3385C>T:p.Arg1129Ter	coding	Pathogenic
17	18122213	A	G	A18122213G	MYO15A	NM_016239.4(MYO15A):c.3413A>G:p.Gln1138Arg	coding	Benign/Likely_benign
17	18122305	C	T	C18122305T	MYO15A	NM_016239.4(MYO15A):c.3505C>T:p.Arg1169Ter	coding	Pathogenic
17	18124531	G	C	G18124531C	MYO15A	NM_016239.4(MYO15A):c.3658G>C:p.Gly1220Arg	coding	Benign/Likely_benign
17	18124558	C	T	C18124558T	MYO15A	NM_016239.4(MYO15A):c.3685C>T:p.Gln1229Ter	coding	Pathogenic
17	18125232	G	T	G18125232T	MYO15A	NM_016239.4(MYO15A):c.3756+1G>T	coding	Pathogenic
17	18126457	G	A	G18126457A	MYO15A	NM_016239.4(MYO15A):c.3866+1G>A	coding	Pathogenic
17	18126926	T	C	T18126926C	MYO15A	NM_016239.4(MYO15A):c.3941+61T>C	noncoding	Benign
17	18127077	G	A	G18127077A	MYO15A	NM_016239.4(MYO15A):c.3944G>A:p.Gly1315Glu	coding	Pathogenic
17	18127166	G	A	G18127166A	MYO15A	NM_016239.4(MYO15A):c.4032+1G>A	coding	Pathogenic
17	18127210	G	A	G18127210A	MYO15A	NM_016239.4(MYO15A):c.4032+45G>A	noncoding	Benign
17	18131501	C	A	C18131501A	MYO15A	NM_016239.4(MYO15A):c.4176C>A:p.Tyr1392Ter	coding	Pathogenic
17	18131523	G	A	G18131523A	MYO15A	NM_016239.4(MYO15A):c.4198G>A:p.Val1400Met	coding	Pathogenic/Likely_pathogenic
17	18132486	G	A	G18132486A	MYO15A	NM_016239.4(MYO15A):c.4240G>A:p.Glu1414Lys	coding	Pathogenic
17	18133255	G	A	G18133255A	MYO15A	NM_016239.4(MYO15A):c.4351G>A:p.Asp1451Asn	coding	Pathogenic/Likely_pathogenic
17	18135747	C	T	C18135747T	MYO15A	NM_016239.4(MYO15A):c.4519C>T:p.Arg1507Ter	coding	Pathogenic
17	18135750	G	T	G18135750T	MYO15A	NM_016239.4(MYO15A):c.4522G>T:p.Glu1508Ter	coding	Pathogenic
17	18135756	C	T	C18135756T	MYO15A	NM_016239.4(MYO15A):c.4528C>T:p.Gln1510Ter	coding	Pathogenic
17	18135761	C	T	C18135761T	MYO15A	NM_016239.4(MYO15A):c.4533C>T:p.Ala1511=	coding	Benign/Likely_benign
17	18135798	C	T	C18135798T	MYO15A	NM_016239.4(MYO15A):c.4570C>T:p.Gln1524Ter	coding	Pathogenic
17	18136429	G	T	G18136429T	MYO15A	NM_016239.4(MYO15A):c.4609G>T:p.Glu1537Ter	coding	Pathogenic
17	18137584	G	C	G18137584C	MYO15A	NM_016239.4(MYO15A):c.4780G>C:p.Asp1594His	coding	Pathogenic
17	18138118	G	T	G18138118T	MYO15A	NM_016239.4(MYO15A):c.4879G>T:p.Glu1627Ter	coding	Pathogenic
17	18138193	C	T	C18138193T	MYO15A	NM_016239.4(MYO15A):c.4954C>T:p.Leu1652=	coding	Benign
17	18138244	C	T	C18138244T	MYO15A	NM_016239.4(MYO15A):c.5005C>T:p.Gln1669Ter	coding	Pathogenic
17	18140503	C	T	C18140503T	MYO15A	NM_016239.4(MYO15A):c.5212-14C>T	noncoding	Benign
17	18141104	G	T	G18141104T	MYO15A	NM_016239.4(MYO15A):c.5492G>T:p.Gly1831Val	coding	Pathogenic
17	18141144	G	A	G18141144A	MYO15A	NM_016239.4(MYO15A):c.5531+1G>A	coding	Pathogenic
17	18141784	G	A	G18141784A	MYO15A	NM_016239.4(MYO15A):c.5649+14G>A	noncoding	Benign
17	18142102	C	G	C18142102G	MYO15A	NM_016239.4(MYO15A):c.5673C>G:p.Tyr1891Ter	coding	Pathogenic
17	18142744	A	C	A18142744C	MYO15A	NM_016239.4(MYO15A):c.5826-12A>C	noncoding	Benign
17	18142826	C	T	C18142826T	MYO15A	NM_016239.4(MYO15A):c.5896C>T:p.Arg1966Ter	coding	Pathogenic
17	18143584	T	C	T18143584C	MYO15A	NM_016239.4(MYO15A):c.5929T>C:p.Cys1977Arg	coding	Benign
17	18143797	G	A	G18143797A	MYO15A	NM_016239.4(MYO15A):c.6046+1G>A	coding	Pathogenic
17	18143875	G	A	G18143875A	MYO15A	NM_016239.4(MYO15A):c.6052G>A:p.Gly2018Arg	coding	Benign
17	18143969	C	A	C18143969A	MYO15A	NM_016239.4(MYO15A):c.6146C>A:p.Pro2049His	coding	Pathogenic
17	18144495	A	G	A18144495G	MYO15A	NM_016239.4(MYO15A):c.6178-2A>G	noncoding	Pathogenic
17	18144496	G	A	G18144496A	MYO15A	NM_016239.4(MYO15A):c.6178-1G>A	noncoding	Pathogenic
17	18145929	A	T	A18145929T	MYO15A	NM_016239.4(MYO15A):c.6331A>T:p.Asn2111Tyr	coding	Pathogenic
17	18145934	C	T	C18145934T	MYO15A	NM_016239.4(MYO15A):c.6336C>T:p.Tyr2112=	coding	Benign/Likely_benign
17	18145935	A	T	A18145935T	MYO15A	NM_016239.4(MYO15A):c.6337A>T:p.Ile2113Phe	coding	Pathogenic
17	18145938	G	A	G18145938A	MYO15A	NM_016239.4(MYO15A):c.6340G>A:p.Val2114Met	coding	Pathogenic
17	18146101	T	G	T18146101G	MYO15A	NM_016239.4(MYO15A):c.6503T>G:p.Leu2168Arg	coding	Pathogenic
17	18148157	G	A	G18148157A	MYO15A	NM_016239.4(MYO15A):c.6638G>A:p.Trp2213Ter	coding	Pathogenic
17	18148792	G	A	G18148792A	MYO15A	NM_016239.4(MYO15A):c.6796G>A:p.Val2266Met	coding	Benign/Likely_benign
17	18149271	C	T	C18149271T	MYO15A	NM_016239.4(MYO15A):c.7012C>T:p.Gln2338Ter	coding	Pathogenic
17	18149553	T	C	T18149553C	MYO15A	NM_016239.4(MYO15A):c.7185T>C:p.Phe2395=	coding	Benign
17	18149575	G	T	G18149575T	MYO15A	NM_016239.4(MYO15A):c.7207G>T:p.Asp2403Tyr	coding	Pathogenic
17	18150907	C	T	C18150907T	MYO15A	NM_016239.4(MYO15A):c.7467C>T:p.Pro2489=	coding	Benign
17	18150908	G	A	G18150908A	MYO15A	NM_016239.4(MYO15A):c.7468G>A:p.Ala2490Thr	coding	Benign
17	18151139	G	A	G18151139A	MYO15A	NM_016239.4(MYO15A):c.7503G>A:p.Thr2501=	coding	Benign/Likely_benign
17	18151378	G	A	G18151378A	MYO15A	NM_016239.4(MYO15A):c.7655-17G>A	noncoding	Benign
17	18151841	C	T	C18151841T	MYO15A	NM_016239.4(MYO15A):c.7788-5C>T	noncoding	Benign
17	18151859	A	T	A18151859T	MYO15A	NM_016239.4(MYO15A):c.7801A>T:p.Lys2601Ter	coding	Pathogenic
17	18151915	G	A	G18151915A	MYO15A	NM_016239.4(MYO15A):c.7857G>A:p.Gly2619=	coding	Benign
17	18151952	G	A	G18151952A	MYO15A	NM_016239.4(MYO15A):c.7893+1G>A	coding	Pathogenic
17	18153853	A	T	A18153853T	MYO15A	NM_016239.4(MYO15A):c.8045A>T:p.Tyr2682Phe	coding	Benign
17	18153901	C	G	C18153901G	MYO15A	NM_016239.4(MYO15A):c.8088+5C>G	noncoding	Benign
17	18154190	G	T	G18154190T	MYO15A	NM_016239.4(MYO15A):c.8148G>T:p.Gln2716His	coding	Pathogenic
17	18154714	G	A	G18154714A	MYO15A	NM_016239.4(MYO15A):c.8183G>A:p.Arg2728His	coding	Pathogenic/Likely_pathogenic
17	18154763	G	C	G18154763C	MYO15A	NM_016239.4(MYO15A):c.8224+8G>C	noncoding	Benign
17	18155207	C	T	C18155207T	MYO15A	NM_016239.4(MYO15A):c.8322C>T:p.Ser2774=	coding	Benign
17	18155224	C	T	C18155224T	MYO15A	NM_016239.4(MYO15A):c.8339C>T:p.Thr2780Met	coding	Benign
17	18155225	G	A	G18155225A	MYO15A	NM_016239.4(MYO15A):c.8340G>A:p.Thr2780=	coding	Pathogenic
17	18155312	A	C	A18155312C	MYO15A	NM_016239.4(MYO15A):c.8341-2A>C	noncoding	Pathogenic
17	18155348	T	C	T18155348C	MYO15A	NM_016239.4(MYO15A):c.8375T>C:p.Val2792Ala	coding	Pathogenic
17	18156180	C	T	C18156180T	MYO15A	NM_016239.4(MYO15A):c.8460-15C>T	noncoding	Benign
17	18156202	G	A	G18156202A	MYO15A	NM_016239.4(MYO15A):c.8467G>A:p.Asp2823Asn	coding	Pathogenic
17	18156259	G	T	G18156259T	MYO15A	NM_016239.4(MYO15A):c.8524G>T:p.Glu2842Ter	coding	Pathogenic
17	18157155	G	A	G18157155A	MYO15A	NM_016239.4(MYO15A):c.8714-1G>A	noncoding	Pathogenic
17	18157209	C	T	C18157209T	MYO15A	NM_016239.4(MYO15A):c.8767C>T:p.Arg2923Ter	coding	Pathogenic
17	18157774	G	A	G18157774A	MYO15A	NM_016239.4(MYO15A):c.8841G>A:p.Leu2947=	coding	Benign/Likely_benign
17	18157922	T	G	T18157922G	MYO15A	NM_016239.4(MYO15A):c.8967+22T>G	noncoding	Benign
17	18157927	C	G	C18157927G	MYO15A	NM_016239.4(MYO15A):c.8967+27C>G	noncoding	Benign
17	18158522	G	C	G18158522C	MYO15A	NM_016239.4(MYO15A):c.8968-1G>C	noncoding	Pathogenic
17	18158644	T	A	T18158644A	MYO15A	NM_016239.4(MYO15A):c.9083+6T>A	noncoding	Pathogenic
17	18159349	T	C	T18159349C	MYO15A	NM_016239.4(MYO15A):c.9229+2T>C	noncoding	Pathogenic
17	18159680	G	T	G18159680T	MYO15A	NM_016239.4(MYO15A):c.9303+1G>T	coding	Pathogenic
17	18161366	C	T	C18161366T	MYO15A	NM_016239.4(MYO15A):c.9436C>T:p.His3146Tyr	coding	Benign
17	18161416	C	T	C18161416T	MYO15A	NM_016239.4(MYO15A):c.9486C>T:p.Asp3162=	coding	Benign
17	18161449	T	C	T18161449C	MYO15A	NM_016239.4(MYO15A):c.9517+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	18162574	T	C	T18162574C	MYO15A	NM_016239.4(MYO15A):c.9518-11T>C	noncoding	Benign
17	18162639	G	A	G18162639A	MYO15A	NM_016239.4(MYO15A):c.9572G>A:p.Arg3191His	coding	Pathogenic
17	18163759	G	A	G18163759A	MYO15A	NM_016239.4(MYO15A):c.9708G>A:p.Val3236=	coding	Benign/Likely_benign
17	18166446	C	T	C18166446T	MYO15A	NM_016239.4(MYO15A):c.9873C>T:p.Leu3291=	coding	Benign/Likely_benign
17	18166449	G	A	G18166449A	MYO15A	NM_016239.4(MYO15A):c.9876G>A:p.Trp3292Ter	coding	Pathogenic
17	18167659	C	T	C18167659T	MYO15A	NM_016239.4(MYO15A):c.10018C>T:p.Gln3340Ter	coding	Pathogenic
17	18167686	C	T	C18167686T	MYO15A	NM_016239.4(MYO15A):c.10045C>T:p.Gln3349Ter	coding	Pathogenic
17	18171691	C	A	C18171691A	MYO15A	NM_016239.4(MYO15A):c.10136C>A:p.Ser3379Ter	coding	Pathogenic
17	18172167	C	T	C18172167T	MYO15A	NM_016239.4(MYO15A):c.10227C>T:p.Ser3409=	coding	Benign
17	18173861	T	C	T18173861C	MYO15A	NM_016239.4(MYO15A):c.10431T>C:p.Tyr3477=	coding	Benign
17	18173873	G	A	G18173873A	MYO15A	NM_016239.4(MYO15A):c.10443G>A:p.Ala3481=	coding	Benign/Likely_benign
17	18178850	A	G	A18178850G	MYO15A	NM_016239.4(MYO15A):c.10573A>G:p.Ser3525Gly	coding	Benign/Likely_benign
17	18179482	C	G	C18179482G	MYO15A	NM_016239.4(MYO15A):c.*612C>G	noncoding	Benign
17	18179790	G	A	G18179790A	MYO15A	NM_016239.4(MYO15A):c.*920G>A	noncoding	Benign
17	18229963	A	G	A18229963G	LLGL1	NM_004140.4(LLGL1):c.104A>G:p.Asn35Ser	coding	Benign
17	18232785	C	T	C18232785T	LLGL1	NM_004140.4(LLGL1):c.375C>T:p.Pro125=	coding	Benign
17	18233808	G	A	G18233808A	LLGL1	NM_004140.4(LLGL1):c.423G>A:p.Val141=	coding	Benign
17	18234014	G	A	G18234014A	LLGL1	NM_004140.4(LLGL1):c.553G>A:p.Val185Met	coding	Benign
17	18234831	G	A	G18234831A	LLGL1	NM_004140.4(LLGL1):c.906-8G>A	noncoding	Benign
17	18237675	C	T	C18237675T	LLGL1	NM_004140.4(LLGL1):c.1806C>T:p.Thr602=	coding	Benign
17	18238493	G	A	G18238493A	LLGL1	NM_004140.4(LLGL1):c.2090G>A:p.Cys697Tyr	coding	Benign
17	18240699	C	T	C18240699T	LLGL1	NM_004140.4(LLGL1):c.2328C>T:p.Ala776=	coding	Benign
17	18240783	C	G	C18240783G	LLGL1	NM_004140.4(LLGL1):c.2412C>G:p.Pro804=	coding	Benign
17	18240858	T	C	T18240858C	LLGL1	NM_004140.4(LLGL1):c.2487T>C:p.Ser829=	coding	Benign
17	18245570	T	A	T18245570A	FLII	NM_002018.4(FLII):c.3594A>T:p.Leu1198=	coding	Benign
17	18245779	G	A	G18245779A	FLII	NM_002018.4(FLII):c.3468C>T:p.Asp1156=	coding	Benign
17	18246834	G	A	G18246834A	FLII	NM_002018.4(FLII):c.2817-6C>T	noncoding	Benign
17	18246910	T	C	T18246910C	FLII	NM_002018.4(FLII):c.2816+3A>G	noncoding	Benign
17	18249353	G	A	G18249353A	FLII	NM_002018.4(FLII):c.1832C>T:p.Thr611Ile	coding	Benign
17	18250828	G	A	G18250828A	FLII	NM_002018.4(FLII):c.1776+10C>T	noncoding	Benign
17	18250862	G	A	G18250862A	FLII	NM_002018.4(FLII):c.1752C>T:p.Gly584=	coding	Benign
17	18250922	G	A	G18250922A	FLII	NM_002018.4(FLII):c.1692C>T:p.His564=	coding	Benign
17	18251397	G	A	G18251397A	FLII	NM_002018.4(FLII):c.1464C>T:p.Ser488=	coding	Benign
17	18252087	G	A	G18252087A	FLII	NM_002018.4(FLII):c.1158C>T:p.Ala386=	coding	Benign
17	18255268	G	A	G18255268A	FLII	NM_002018.4(FLII):c.247-5C>T	noncoding	Benign
17	18263179	C	T	C18263179T	MIEF2	NM_139162.4(MIEF2):c.241C>T:p.Gln81Ter	coding	Pathogenic
17	18278185	T	C	T18278185C	TOP3A	NM_004618.5(TOP3A):c.2317A>G:p.Asn773Asp	coding	Benign
17	18290928	C	T	C18290928T	TOP3A	NM_004618.5(TOP3A):c.1381G>A:p.Ala461Thr	coding	Benign
17	18305179	C	A	C18305179A	TOP3A	NM_004618.5(TOP3A):c.432G>T:p.Val144=	coding	Benign
17	18305208	G	A	G18305208A	TOP3A	NM_004618.5(TOP3A):c.403C>T:p.Arg135Ter	coding	Pathogenic
17	18306970	G	C	G18306970C	TOP3A	NM_004618.5(TOP3A):c.315-4C>G	noncoding	Benign
17	18308367	T	C	T18308367C	TOP3A	NM_004618.5(TOP3A):c.298A>G:p.Met100Val	coding	Pathogenic
17	18316954	A	G	A18316954G	SMCR8	NM_144775.3(SMCR8):c.1165A>G:p.Ile389Val	coding	Benign
17	18328822	G	A	G18328822A	SHMT1	NM_004169.5(SHMT1):c.1380C>T:p.Ala460=	coding	Benign
17	18333202	C	G	C18333202G	SHMT1	NM_004169.5(SHMT1):c.1018G>C:p.Glu340Gln	coding	Benign
17	18335678	G	A	G18335678A	SHMT1	NM_004169.5(SHMT1):c.815-3C>T	noncoding	Benign
17	18340104	C	G	C18340104G	SHMT1	NM_004169.5(SHMT1):c.753G>C:p.Val251=	coding	Benign
17	18340104	C	T	C18340104T	SHMT1	NM_004169.5(SHMT1):c.753G>A:p.Val251=	coding	Benign
17	18340210	T	C	T18340210C	SHMT1	NM_004169.5(SHMT1):c.647A>G:p.Lys216Arg	coding	Benign
17	18353662	A	G	A18353662G	SHMT1	NM_004169.5(SHMT1):c.242+10T>C	noncoding	Benign
17	18355980	A	T	A18355980T	SHMT1	NM_004169.5(SHMT1):c.2T>A:p.Met1Lys	coding	Benign
17	18749875	G	T	G18749875T	FBXW10	NM_001267585.2(FBXW10):c.824G>T:p.Arg275Leu	coding	Benign
17	18978292	C	A	C18978292A	FAM83G	NM_001039999.3(FAM83G):c.1374G>T:p.Gln458His	coding	Benign
17	19343354	A	G	A19343354G	B9D1	NM_015681.5(B9D1):c.580T>C:p.Leu194=	coding	Benign/Likely_benign
17	19343554	T	C	T19343554C	B9D1	NM_015681.5(B9D1):c.473-93A>G	coding	Benign
17	19343762	G	A	G19343762A	B9D1	NM_015681.5(B9D1):c.472+28C>T	coding	Benign
17	19343795	C	T	C19343795T	B9D1	NM_015681.5(B9D1):c.467G>A:p.Arg156Gln	coding	Pathogenic
17	19343796	G	A	G19343796A	B9D1	NM_015681.5(B9D1):c.466C>T:p.Arg156Trp	coding	Pathogenic
17	19347217	T	C	T19347217C	B9D1	NM_015681.5(B9D1):c.404+52A>G	noncoding	Benign
17	19347782	A	G	A19347782G	B9D1	NM_015681.5(B9D1):c.341+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	19357847	G	C	G19357847C	B9D1	NM_015681.5(B9D1):c.237C>G:p.Pro79=	coding	Benign/Likely_benign
17	19357903	G	A	G19357903A	B9D1	NM_015681.5(B9D1):c.181C>T:p.Arg61Trp	coding	Benign/Likely_benign
17	19362484	C	T	C19362484T	B9D1	NM_015681.5(B9D1):c.63+23G>A	noncoding	Benign
17	19362639	C	T	C19362639T	B9D1	NM_015681.5(B9D1):c.-70G>A	coding	Benign
17	19362679	C	T	C19362679T	B9D1	NM_015681.5(B9D1):c.-110G>A	coding	Benign
17	19381095	G	A	G19381095A	MAPK7	NM_002749.4(MAPK7):c.886G>A:p.Ala296Thr	coding	Pathogenic
17	19381954	C	T	C19381954T	MAPK7	NM_002749.4(MAPK7):c.1651C>T:p.Pro551Ser	coding	Benign
17	19382063	C	T	C19382063T	MAPK7	NM_002749.4(MAPK7):c.1760C>T:p.Pro587Leu	coding	Pathogenic
17	19382246	C	T	C19382246T	MAPK7	NM_002749.4(MAPK7):c.1943C>T:p.Pro648Leu	coding	Pathogenic
17	19413600	A	G	A19413600G	RNF112	NM_007148.5(RNF112):c.744A>G:p.Thr248=	coding	Benign
17	19416076	C	T	C19416076T	RNF112	NM_007148.5(RNF112):c.1797C>T:p.Gly599=	coding	Benign
17	19546467	C	T	C19546467T	SLC47A1	NM_018242.3(SLC47A1):c.270C>T:p.Phe90=	coding	Benign
17	19555821	C	T	C19555821T	SLC47A1	NM_018242.3(SLC47A1):c.765C>T:p.Asp255=	coding	Benign
17	19577330	G	T	G19577330T	SLC47A1	NM_018242.3(SLC47A1):c.1490G>T:p.Cys497Phe	coding	Benign
17	19648818	G	A	G19648818A	ALDH3A2	NM_000382.3(ALDH3A2):c.-154G>A	noncoding	Benign
17	19649021	C	A	C19649021A	ALDH3A2	NM_000382.3(ALDH3A2):c.50C>A:p.Ser17Ter	coding	Pathogenic
17	19649074	C	T	C19649074T	ALDH3A2	NM_000382.3(ALDH3A2):c.103C>T:p.Gln35Ter	coding	Pathogenic
17	19651584	T	A	T19651584A	ALDH3A2	NM_000382.3(ALDH3A2):c.191T>A:p.Val64Asp	coding	Pathogenic
17	19651780	T	C	T19651780C	ALDH3A2	NM_000382.3(ALDH3A2):c.385+2T>C	noncoding	Pathogenic
17	19652545	A	T	A19652545T	ALDH3A2	NM_000382.3(ALDH3A2):c.386-2A>T	noncoding	Pathogenic
17	19652626	A	G	A19652626G	ALDH3A2	NM_000382.3(ALDH3A2):c.465A>G:p.Leu155=	coding	Benign
17	19652633	G	C	G19652633C	ALDH3A2	NM_000382.3(ALDH3A2):c.471+1G>C	coding	Pathogenic
17	19656374	T	G	T19656374G	ALDH3A2	NM_000382.3(ALDH3A2):c.480T>G:p.Tyr160Ter	coding	Pathogenic
17	19656423	C	T	C19656423T	ALDH3A2	NM_000382.3(ALDH3A2):c.529C>T:p.Arg177Ter	coding	Pathogenic/Likely_pathogenic
17	19656445	C	T	C19656445T	ALDH3A2	NM_000382.3(ALDH3A2):c.551C>T:p.Thr184Met	coding	Pathogenic/Likely_pathogenic
17	19656457	C	T	C19656457T	ALDH3A2	NM_000382.3(ALDH3A2):c.563C>T:p.Ala188Val	coding	Benign/Likely_benign
17	19656525	A	G	A19656525G	ALDH3A2	NM_000382.3(ALDH3A2):c.631A>G:p.Lys211Glu	coding	Pathogenic
17	19656535	G	A	G19656535A	ALDH3A2	NM_000382.3(ALDH3A2):c.641G>A:p.Cys214Tyr	coding	Pathogenic
17	19657747	G	A	G19657747A	ALDH3A2	NM_000382.3(ALDH3A2):c.683G>A:p.Arg228His	coding	Pathogenic
17	19657774	G	A	G19657774A	ALDH3A2	NM_000382.3(ALDH3A2):c.710G>A:p.Cys237Tyr	coding	Pathogenic/Likely_pathogenic
17	19657797	G	A	G19657797A	ALDH3A2	NM_000382.3(ALDH3A2):c.733G>A:p.Asp245Asn	coding	Pathogenic
17	19661165	T	G	T19661165G	ALDH3A2	NM_000382.3(ALDH3A2):c.837T>G:p.Tyr279Ter	coding	Pathogenic
17	19663335	C	T	C19663335T	ALDH3A2	NM_000382.3(ALDH3A2):c.943C>T:p.Pro315Ser	coding	Pathogenic
17	19663486	C	T	C19663486T	ALDH3A2	NM_000382.3(ALDH3A2):c.1094C>T:p.Ser365Leu	coding	Pathogenic/Likely_pathogenic
17	19664947	G	C	G19664947C	ALDH3A2	NM_000382.3(ALDH3A2):c.1108-1G>C	noncoding	Pathogenic
17	19664997	A	G	A19664997G	ALDH3A2	NM_000382.3(ALDH3A2):c.1157A>G:p.Asn386Ser	coding	Pathogenic/Likely_pathogenic
17	19665042	G	A	G19665042A	ALDH3A2	NM_000382.3(ALDH3A2):c.1202G>A:p.Gly401Glu	coding	Pathogenic
17	19671783	C	T	C19671783T	ALDH3A2	NM_000382.3(ALDH3A2):c.1270C>T:p.Pro424Ser	coding	Benign/Likely_benign
17	19671822	A	T	A19671822T	ALDH3A2	NM_000382.3(ALDH3A2):c.1309A>T:p.Lys437Ter	coding	Pathogenic
17	19675560	A	T	A19675560T	ALDH3A2	NM_000382.3(ALDH3A2):c.1446A>T:p.Ala482=	coding	Benign
17	19675608	G	A	G19675608A	ALDH3A2	NM_000382.3(ALDH3A2):c.*36G>A	noncoding	Benign
17	19676266	C	T	C19676266T	ALDH3A2	NM_000382.3(ALDH3A2):c.*694C>T	noncoding	Benign
17	19676828	C	G	C19676828G	ALDH3A2	NM_000382.3(ALDH3A2):c.*1256C>G	noncoding	Benign
17	19676934	G	A	G19676934A	ALDH3A2	NM_000382.3(ALDH3A2):c.*1362G>A	noncoding	Benign
17	19677034	G	A	G19677034A	ALDH3A2	NM_000382.3(ALDH3A2):c.*1462G>A	noncoding	Benign
17	19677181	A	G	A19677181G	ALDH3A2	NM_000382.3(ALDH3A2):c.*1609A>G	noncoding	Benign
17	19677374	A	G	A19677374G	ALDH3A2	NM_000382.3(ALDH3A2):c.*1802A>G	noncoding	Benign
17	19708463	C	T	C19708463T	SLC47A2	NM_152908.4(SLC47A2):c.576G>A:p.Pro192=	coding	Benign
17	19740352	G	A	G19740352A	ALDH3A1	NM_000691.5(ALDH3A1):c.933C>T:p.Ala311=	coding	Benign
17	19740386	C	T	C19740386T	ALDH3A1	NM_000691.5(ALDH3A1):c.899G>A:p.Gly300Asp	coding	Benign
17	19742099	C	T	C19742099T	ALDH3A1	NM_000691.5(ALDH3A1):c.594G>A:p.Thr198=	coding	Benign
17	19743368	G	A	G19743368A	ALDH3A1	NM_000691.5(ALDH3A1):c.258C>T:p.Pro86=	coding	Benign
17	19744989	C	T	C19744989T	ALDH3A1	NM_000691.5(ALDH3A1):c.141G>A:p.Ala47=	coding	Benign
17	19781102	C	T	C19781102T	ULK2	NM_014683.4(ULK2):c.2642G>A:p.Arg881Gln	coding	Benign
17	19783772	G	A	G19783772A	ULK2	NM_014683.4(ULK2):c.2385C>T:p.Tyr795=	coding	Benign
17	19797537	C	T	C19797537T	ULK2	NM_014683.4(ULK2):c.1668G>A:p.Gly556=	coding	Benign
17	19797588	C	T	C19797588T	ULK2	NM_014683.4(ULK2):c.1617G>A:p.Lys539=	coding	Benign
17	19867403	A	G	A19867403G	ULK2	NM_014683.4(ULK2):c.15T>C:p.Gly5=	coding	Benign
17	20312039	T	G	T20312039G	SPECC1	NM_001243439.2(SPECC1):c.3118-1937T>G	noncoding	Benign
17	20467454	G	C	G20467454C	LGALS9B	NM_001042685.2(LGALS9B):c.17C>G:p.Ser6Cys	coding	Benign
17	21198467	G	A	G21198467A	TMEM11	NM_003876.3(TMEM11):c.436C>T:p.Leu146=	coding	Benign
17	21298407	T	C	T21298407C	MAP2K3	NM_145109.3(MAP2K3):c.50-6T>C	noncoding	Benign
17	21298438	A	C	A21298438C	MAP2K3	NM_145109.3(MAP2K3):c.75A>C:p.Leu25=	coding	Benign
17	21298879	C	A	C21298879A	MAP2K3	NM_145109.3(MAP2K3):c.118C>A:p.Pro40Thr	coding	Benign
17	21298916	T	C	T21298916C	MAP2K3	NM_145109.3(MAP2K3):c.155T>C:p.Ile52Thr	coding	Benign
17	21298925	G	C	G21298925C	MAP2K3	NM_145109.3(MAP2K3):c.164G>C:p.Arg55Thr	coding	Benign
17	21300581	T	C	T21300581C	MAP2K3	NM_145109.3(MAP2K3):c.202T>C:p.Ser68Pro	coding	Benign
17	21300629	G	A	G21300629A	MAP2K3	NM_145109.3(MAP2K3):c.250G>A:p.Ala84Thr	coding	Benign
17	21300649	G	A	G21300649A	MAP2K3	NM_145109.3(MAP2K3):c.270G>A:p.Met90Ile	coding	Benign
17	21302241	T	C	T21302241C	MAP2K3	NM_145109.3(MAP2K3):c.498T>C:p.Leu166=	coding	Benign
17	21303244	C	T	C21303244T	MAP2K3	NM_145109.3(MAP2K3):c.568+10C>T	noncoding	Benign
17	21304484	T	C	T21304484C	MAP2K3	NM_145109.3(MAP2K3):c.627T>C:p.Phe209=	coding	Benign
17	21304517	C	T	C21304517T	MAP2K3	NM_145109.3(MAP2K3):c.660C>T:p.Ala220=	coding	Benign
17	21304522	C	T	C21304522T	MAP2K3	NM_145109.3(MAP2K3):c.665C>T:p.Thr222Met	coding	Benign
17	21305085	G	T	G21305085T	MAP2K3	NM_145109.3(MAP2K3):c.731G>T:p.Gly244Val	coding	Benign
17	21305137	G	T	G21305137T	MAP2K3	NM_145109.3(MAP2K3):c.774+9G>T	noncoding	Benign
17	21312134	C	T	C21312134T	MAP2K3	NM_145109.3(MAP2K3):c.775-8C>T	noncoding	Benign
17	21312186	C	G	C21312186G	MAP2K3	NM_145109.3(MAP2K3):c.819C>G:p.Thr273=	coding	Benign
17	21312245	G	A	G21312245A	MAP2K3	NM_145109.3(MAP2K3):c.878G>A:p.Arg293His	coding	Benign
17	21314164	C	A	C21314164A	MAP2K3	NM_145109.3(MAP2K3):c.978C>A:p.Thr326=	coding	Benign
17	21314201	G	A	G21314201A	MAP2K3	NM_145109.3(MAP2K3):c.1015G>A:p.Val339Met	coding	Benign
17	21702913	C	T	C21702913T	KCNJ18	NM_001194958.2(KCNJ18):c.127C>T:p.Arg43Cys	coding	Pathogenic
17	21703205	C	T	C21703205T	KCNJ18	NM_001194958.2(KCNJ18):c.419C>T:p.Thr140Met	coding	Pathogenic
17	21703288	G	A	G21703288A	KCNJ18	NM_001194958.2(KCNJ18):c.502G>A:p.Val168Met	coding	Pathogenic
17	21703384	G	C	G21703384C	KCNJ18	NM_001194958.2(KCNJ18):c.598G>C:p.Ala200Pro	coding	Pathogenic
17	21703981	C	T	C21703981T	KCNJ18	NM_001194958.2(KCNJ18):c.1195C>T:p.Arg399Ter	coding	Pathogenic
17	21704005	C	T	C21704005T	KCNJ18	NM_001194958.2(KCNJ18):c.1219C>T:p.Gln407Ter	coding	Pathogenic
17	27647416	G	A	G27647416A	LGALS9	NM_009587.3(LGALS9):c.905G>A:p.Arg302His	coding	Benign
17	27757300	C	T	C27757300T	NOS2	NM_000625.4(NOS2):c.3408G>A:p.Ala1136=	coding	Benign
17	27758902	C	T	C27758902T	NOS2	NM_000625.4(NOS2):c.3333G>A:p.Glu1111=	coding	Benign
17	27758905	G	A	G27758905A	NOS2	NM_000625.4(NOS2):c.3330C>T:p.Val1110=	coding	Benign
17	27765526	G	A	G27765526A	NOS2	NM_000625.4(NOS2):c.2428+9C>T	noncoding	Benign
17	27770967	C	T	C27770967T	NOS2	NM_000625.4(NOS2):c.1755G>A:p.Leu585=	coding	Benign
17	27772298	G	A	G27772298A	NOS2	NM_000625.4(NOS2):c.1704+10C>T	noncoding	Benign
17	27779066	A	G	A27779066G	NOS2	NM_000625.4(NOS2):c.1005-10T>C	noncoding	Benign
17	27780814	G	A	G27780814A	NOS2	NM_000625.4(NOS2):c.957C>T:p.Phe319=	coding	Benign
17	27788830	T	A	T27788830A	NOS2	NM_000625.4(NOS2):c.297A>T:p.Thr99=	coding	Benign
17	28348239	C	T	C28348239T	POLDIP2	NM_015584.5(POLDIP2):c.993-8G>A	noncoding	Benign
17	28349133	C	T	C28349133T	POLDIP2	NM_015584.5(POLDIP2):c.942G>A:p.Ala314=	coding	Benign
17	28349157	T	C	T28349157C	POLDIP2	NM_015584.5(POLDIP2):c.918A>G:p.Pro306=	coding	Benign
17	28352988	G	C	G28352988C	POLDIP2	NM_015584.5(POLDIP2):c.546C>G:p.Leu182=	coding	Benign
17	28357347	G	A	G28357347A	POLDIP2	NM_015584.5(POLDIP2):c.102C>T:p.Ala34=	coding	Benign
17	28357710	G	C	G28357710C	TMEM199	NM_152464.3(TMEM199):c.40G>C:p.Ala14Pro	coding	Pathogenic
17	28357762	G	C	G28357762C	TMEM199	NM_152464.3(TMEM199):c.92G>C:p.Arg31Pro	coding	Pathogenic
17	28357826	A	G	A28357826G	TMEM199	NM_152464.3(TMEM199):c.156A>G:p.Gln52=	coding	Benign
17	28358960	T	C	T28358960C	TMEM199	NM_152464.3(TMEM199):c.256T>C:p.Tyr86His	coding	Benign/Likely_benign
17	28360528	G	A	G28360528A	TMEM199	NM_152464.3(TMEM199):c.376-1G>A	noncoding	Pathogenic
17	28360788	G	A	G28360788A	TMEM199	NM_152464.3(TMEM199):c.472G>A:p.Val158Ile	coding	Benign
17	28360812	C	G	C28360812G	TMEM199	NM_152464.3(TMEM199):c.496C>G:p.Leu166Val	coding	Benign
17	28367869	G	A	G28367869A	VTN	NM_000638.4(VTN):c.1170C>T:p.Asn390=	coding	Benign
17	28368609	G	A	G28368609A	VTN	NM_000638.4(VTN):c.891C>T:p.Ser297=	coding	Benign
17	28369659	T	A	T28369659A	VTN	NM_000638.4(VTN):c.377A>T:p.Glu126Val	coding	Benign
17	28369988	G	A	G28369988A	VTN	NM_000638.4(VTN):c.123C>T:p.Asp41=	coding	Benign
17	28395626	G	A	G28395626A	SLC46A1	NM_080669.6(SLC46A1):c.*4030C>T	coding	Benign
17	28395709	C	T	C28395709T	SLC46A1	NM_080669.6(SLC46A1):c.*3947G>A	coding	Benign
17	28395871	A	G	A28395871G	SLC46A1	NM_080669.6(SLC46A1):c.*3785T>C	coding	Benign
17	28396390	C	T	C28396390T	SLC46A1	NM_080669.6(SLC46A1):c.*3266G>A	noncoding	Benign
17	28396594	G	T	G28396594T	SLC46A1	NM_080669.6(SLC46A1):c.*3062C>A	noncoding	Benign
17	28396688	G	A	G28396688A	SLC46A1	NM_080669.6(SLC46A1):c.*2968C>T	noncoding	Benign
17	28396803	C	T	C28396803T	SLC46A1	NM_080669.6(SLC46A1):c.*2853G>A	noncoding	Benign
17	28396813	C	T	C28396813T	SLC46A1	NM_080669.6(SLC46A1):c.*2843G>A	noncoding	Benign
17	28396910	C	T	C28396910T	SLC46A1	NM_080669.6(SLC46A1):c.*2746G>A	noncoding	Benign
17	28397408	A	G	A28397408G	SLC46A1	NM_080669.6(SLC46A1):c.*2248T>C	noncoding	Benign
17	28397439	T	C	T28397439C	SLC46A1	NM_080669.6(SLC46A1):c.*2217A>G	noncoding	Benign
17	28397882	T	C	T28397882C	SLC46A1	NM_080669.6(SLC46A1):c.*1774A>G	noncoding	Benign
17	28398249	G	A	G28398249A	SLC46A1	NM_080669.6(SLC46A1):c.*1407C>T	noncoding	Benign
17	28398413	T	C	T28398413C	SLC46A1	NM_080669.6(SLC46A1):c.*1243A>G	noncoding	Benign
17	28398728	T	C	T28398728C	SLC46A1	NM_080669.6(SLC46A1):c.*928A>G	noncoding	Benign
17	28398927	C	T	C28398927T	SLC46A1	NM_080669.6(SLC46A1):c.*729G>A	noncoding	Benign
17	28398964	T	A	T28398964A	SLC46A1	NM_080669.6(SLC46A1):c.*692A>T	noncoding	Benign
17	28398985	G	A	G28398985A	SLC46A1	NM_080669.6(SLC46A1):c.*671C>T	noncoding	Benign
17	28399670	G	A	G28399670A	SLC46A1	NM_080669.6(SLC46A1):c.1366C>T:p.Pro456Ser	coding	Benign/Likely_benign
17	28400658	G	C	G28400658C	SLC46A1	NM_080669.6(SLC46A1):c.1274C>G:p.Pro425Arg	coding	Pathogenic
17	28402276	C	T	C28402276T	SLC46A1	NM_080669.6(SLC46A1):c.1127G>A:p.Arg376Gln	coding	Pathogenic
17	28402277	G	A	G28402277A	SLC46A1	NM_080669.6(SLC46A1):c.1126C>T:p.Arg376Trp	coding	Pathogenic
17	28402322	C	T	C28402322T	SLC46A1	NM_080669.6(SLC46A1):c.1082-1G>A	coding	Pathogenic
17	28404685	C	G	C28404685G	SLC46A1	NM_080669.6(SLC46A1):c.1012G>C:p.Gly338Arg	coding	Pathogenic
17	28404693	G	T	G28404693T	SLC46A1	NM_080669.6(SLC46A1):c.1004C>A:p.Ala335Asp	coding	Pathogenic
17	28404743	G	C	G28404743C	SLC46A1	NM_080669.6(SLC46A1):c.954C>G:p.Ser318Arg	coding	Pathogenic
17	28404814	T	C	T28404814C	SLC46A1	NM_080669.6(SLC46A1):c.883A>G:p.Thr295Ala	coding	Benign/Likely_benign
17	28404941	G	C	G28404941C	SLC46A1	NM_080669.6(SLC46A1):c.756C>G:p.Val252=	coding	Benign/Likely_benign
17	28405231	C	A	C28405231A	SLC46A1	NM_080669.6(SLC46A1):c.466G>T:p.Asp156Tyr	coding	Pathogenic
17	28405258	C	G	C28405258G	SLC46A1	NM_080669.6(SLC46A1):c.439G>C:p.Gly147Arg	coding	Pathogenic
17	28405360	G	A	G28405360A	SLC46A1	NM_080669.6(SLC46A1):c.337C>T:p.Arg113Cys	coding	Pathogenic
17	28405360	G	T	G28405360T	SLC46A1	NM_080669.6(SLC46A1):c.337C>A:p.Arg113Ser	coding	Pathogenic
17	28405926	C	G	C28405926G	SLC46A1	NM_080669.6(SLC46A1):c.189G>C:p.Arg63Ser	coding	Benign/Likely_benign
17	28523978	G	A	G28523978A	FOXN1	NM_001369369.1(FOXN1):c.9G>A:p.Ser3=	coding	Benign/Likely_benign
17	28524103	G	A	G28524103A	FOXN1	NM_001369369.1(FOXN1):c.123+11G>A	noncoding	Benign/Likely_benign
17	28524483	G	A	G28524483A	FOXN1	NM_001369369.1(FOXN1):c.124-20G>A	noncoding	Benign
17	28524584	C	T	C28524584T	FOXN1	NM_001369369.1(FOXN1):c.205C>T:p.Arg69Cys	coding	Benign
17	28524658	C	G	C28524658G	FOXN1	NM_001369369.1(FOXN1):c.279C>G:p.Leu93=	coding	Benign
17	28524741	C	T	C28524741T	FOXN1	NM_001369369.1(FOXN1):c.362C>T:p.Ala121Val	coding	Benign
17	28529108	T	C	T28529108C	FOXN1	NM_001369369.1(FOXN1):c.714T>C:p.Gly238=	coding	Benign
17	28529157	C	T	C28529157T	FOXN1	NM_001369369.1(FOXN1):c.763C>T:p.Arg255Ter	coding	Pathogenic
17	28529243	A	G	A28529243G	FOXN1	NM_001369369.1(FOXN1):c.830+19A>G	noncoding	Benign
17	28530770	T	C	T28530770C	FOXN1	NM_001369369.1(FOXN1):c.852T>C:p.Leu284=	coding	Benign
17	28534361	C	T	C28534361T	FOXN1	NM_001369369.1(FOXN1):c.958C>T:p.Arg320Trp	coding	Pathogenic
17	28534546	C	T	C28534546T	FOXN1	NM_001369369.1(FOXN1):c.1135+8C>T	noncoding	Benign
17	28534786	C	T	C28534786T	FOXN1	NM_001369369.1(FOXN1):c.1215C>T:p.Ser405=	coding	Benign/Likely_benign
17	28534859	C	T	C28534859T	FOXN1	NM_001369369.1(FOXN1):c.1288C>T:p.Pro430Ser	coding	Benign
17	28534947	C	A	C28534947A	FOXN1	NM_001369369.1(FOXN1):c.1376C>A:p.Ser459Ter	coding	Pathogenic
17	28534991	C	T	C28534991T	FOXN1	NM_001369369.1(FOXN1):c.1420C>T:p.Gln474Ter	coding	Pathogenic
17	28534996	G	A	G28534996A	FOXN1	NM_001369369.1(FOXN1):c.1425G>A:p.Pro475=	coding	Benign/Likely_benign
17	28535014	G	T	G28535014T	FOXN1	NM_001369369.1(FOXN1):c.1443G>T:p.Leu481=	coding	Benign/Likely_benign
17	28537199	G	A	G28537199A	FOXN1	NM_001369369.1(FOXN1):c.1710G>A:p.Ser570=	coding	Benign
17	28537284	G	C	G28537284C	FOXN1	NM_001369369.1(FOXN1):c.1795G>C:p.Ala599Pro	coding	Benign
17	28537456	G	C	G28537456C	FOXN1	NM_003593.2(FOXN1):c.*20G>C	noncoding	Benign
17	28537690	G	A	G28537690A	FOXN1	NM_003593.2(FOXN1):c.*254G>A	noncoding	Benign
17	28546935	G	C	G28546935C	UNC119	NM_054035.2(UNC119):c.*689C>G	noncoding	Benign
17	28547071	G	A	G28547071A	UNC119	NM_054035.2(UNC119):c.*553C>T	noncoding	Benign
17	28547157	T	C	T28547157C	UNC119	NM_054035.2(UNC119):c.*467A>G	noncoding	Benign
17	28547214	C	G	C28547214G	UNC119	NM_054035.2(UNC119):c.*410G>C	noncoding	Benign
17	28547225	G	A	G28547225A	UNC119	NM_054035.2(UNC119):c.*399C>T	noncoding	Benign
17	28547296	G	A	G28547296A	UNC119	NM_005148.4(UNC119):c.*1C>T	noncoding	Benign
17	28547357	G	A	G28547357A	UNC119	NM_054035.2(UNC119):c.*267C>T	coding	Benign
17	28547992	G	A	G28547992A	UNC119	NM_054035.2(UNC119):c.437+7C>T	noncoding	Benign
17	28548645	C	T	C28548645T	UNC119	NM_005148.4(UNC119):c.281G>A:p.Arg94Gln	coding	Benign
17	28548659	G	C	G28548659C	UNC119	NM_054035.2(UNC119):c.267C>G:p.Val89=	coding	Benign
17	28548692	G	A	G28548692A	UNC119	NM_054035.2(UNC119):c.234C>T:p.Ser78=	coding	Benign
17	28552323	C	G	C28552323G	UNC119	NM_054035.2(UNC119):c.220+15G>C	noncoding	Benign
17	28552493	C	A	C28552493A	UNC119	NM_054035.2(UNC119):c.65G>T:p.Gly22Val	coding	Benign/Likely_benign
17	28552623	A	C	A28552623C	UNC119	NM_054035.2(UNC119):c.-66T>G	noncoding	Benign
17	28556877	C	A	C28556877A	PIGS	NM_033198.4(PIGS):c.1030G>T:p.Ala344Ser	coding	Benign
17	28560110	C	T	C28560110T	PIGS	NM_033198.4(PIGS):c.758G>A:p.Arg253His	coding	Benign
17	28563430	C	G	C28563430G	PIGS	NM_033198.4(PIGS):c.468+1G>C	noncoding	Pathogenic
17	28579797	C	T	C28579797T	SPAG5	NM_006461.4(SPAG5):c.2838G>A:p.Lys946=	coding	Benign
17	28634629	A	C	A28634629C	KIAA0100	NM_014680.5(KIAA0100):c.2958T>G:p.His986Gln	coding	Benign
17	28634700	G	A	G28634700A	KIAA0100	NM_014680.5(KIAA0100):c.2887C>T:p.Leu963=	coding	Benign
17	28634725	A	G	A28634725G	KIAA0100	NM_014680.5(KIAA0100):c.2862T>C:p.Tyr954=	coding	Benign
17	28635413	G	A	G28635413A	KIAA0100	NM_014680.5(KIAA0100):c.2174C>T:p.Pro725Leu	coding	Benign
17	28703927	T	C	T28703927C	PROCA1	NM_001304952.2(PROCA1):c.648A>G:p.Lys216=	coding	Benign
17	28704052	C	T	C28704052T	PROCA1	NM_001304952.2(PROCA1):c.523G>A:p.Gly175Ser	coding	Benign
17	28728861	G	A	G28728861A	NEK8	NM_178170.3(NEK8):c.47+1G>A	coding	Pathogenic
17	28734777	A	G	A28734777G	NEK8	NM_178170.3(NEK8):c.259A>G:p.Thr87Ala	coding	Pathogenic
17	28734897	C	T	C28734897T	NEK8	NM_178170.3(NEK8):c.379C>T:p.Arg127Ter	coding	Pathogenic
17	28737972	C	T	C28737972T	NEK8	NM_178170.3(NEK8):c.1043C>T:p.Thr348Met	coding	Pathogenic
17	28738193	T	C	T28738193C	NEK8	NM_178170.3(NEK8):c.1170T>C:p.Gly390=	coding	Benign
17	28738721	C	T	C28738721T	NEK8	NM_178170.3(NEK8):c.1273C>T:p.His425Tyr	coding	Pathogenic
17	28739168	C	T	C28739168T	NEK8	NM_178170.3(NEK8):c.1384C>T:p.Arg462Ter	coding	Pathogenic
17	28739185	G	A	G28739185A	NEK8	NM_178170.3(NEK8):c.1401G>A:p.Trp467Ter	coding	Pathogenic/Likely_pathogenic
17	28740885	G	C	G28740885C	NEK8	NM_178170.3(NEK8):c.1632G>C:p.Val544=	coding	Benign
17	28740894	C	T	C28740894T	NEK8	NM_178170.3(NEK8):c.1641C>T:p.Ala547=	coding	Benign
17	28741083	G	A	G28741083A	NEK8	NM_178170.3(NEK8):c.1738G>A:p.Gly580Ser	coding	Pathogenic
17	28741115	C	T	C28741115T	NEK8	NM_178170.3(NEK8):c.1770C>T:p.His590=	coding	Benign/Likely_benign
17	28741459	A	C	A28741459C	NEK8	NM_178170.3(NEK8):c.1938A>C:p.Gly646=	coding	Benign/Likely_benign
17	28741522	G	A	G28741522A	NEK8	NM_178170.3(NEK8):c.2001G>A:p.Thr667=	coding	Benign
17	28741960	G	A	G28741960A	NEK8	NM_178170.3(NEK8):c.2052G>A:p.Ser684=	coding	Benign
17	28742006	T	C	T28742006C	NEK8	NM_178170.3(NEK8):c.*19T>C	noncoding	Benign
17	28742624	C	G	C28742624G	NEK8	NM_178170.3(NEK8):c.*637C>G	noncoding	Benign
17	28748316	G	A	G28748316A	TRAF4	NM_004295.4(TRAF4):c.517G>A:p.Ala173Thr	coding	Benign
17	28758321	G	A	G28758321A	FAM222B	NM_001288631.2(FAM222B):c.1644C>T:p.Pro548=	coding	Benign
17	28758335	C	T	C28758335T	FAM222B	NM_001288631.2(FAM222B):c.1630G>A:p.Gly544Ser	coding	Benign
17	28858482	A	T	A28858482T	ERAL1	NM_005702.4(ERAL1):c.707A>T:p.Asn236Ile	coding	Pathogenic
17	28881287	T	C	T28881287C	FLOT2	NM_004475.3(FLOT2):c.1003A>G:p.Lys335Glu	coding	Benign
17	28882406	C	T	C28882406T	FLOT2	NM_004475.3(FLOT2):c.510G>A:p.Thr170=	coding	Benign
17	28912612	C	T	C28912612T	PHF12	NM_001033561.2(PHF12):c.1959G>A:p.Pro653=	coding	Benign
17	28957076	A	G	A28957076G	SEZ6	NM_178860.5(SEZ6):c.2661T>C:p.His887=	coding	Benign
17	28957176	T	C	T28957176C	SEZ6	NM_178860.5(SEZ6):c.2561A>G:p.Gln854Arg	coding	Benign
17	28959135	C	T	C28959135T	SEZ6	NM_178860.5(SEZ6):c.1997G>A:p.Arg666His	coding	Benign
17	28959404	C	T	C28959404T	SEZ6	NM_178860.5(SEZ6):c.1840G>A:p.Gly614Ser	coding	Benign
17	28959444	C	T	C28959444T	SEZ6	NM_178860.5(SEZ6):c.1800G>A:p.Ser600=	coding	Benign
17	28963971	C	T	C28963971T	SEZ6	NM_178860.5(SEZ6):c.1231G>A:p.Val411Ile	coding	Benign
17	28964028	C	T	C28964028T	SEZ6	NM_178860.5(SEZ6):c.1174G>A:p.Ala392Thr	coding	Benign
17	28981485	C	T	C28981485T	SEZ6	NM_178860.5(SEZ6):c.610G>A:p.Ala204Thr	coding	Benign
17	29074043	C	T	C29074043T	TIAF1	NM_078471.4(MYO18A):c.*727G>A	coding	Benign
17	29074062	T	C	T29074062C	TIAF1	NM_078471.4(MYO18A):c.*708A>G	coding	Benign
17	29086488	A	G	A29086488G	MYO18A	NM_001346765.2(MYO18A):c.5859T>C:p.Ala1953=	coding	Benign
17	29086942	G	A	G29086942A	MYO18A	NM_078471.4(MYO18A):c.5706C>T:p.His1902=	coding	Benign
17	29086957	C	T	C29086957T	MYO18A	NM_078471.4(MYO18A):c.5691G>A:p.Ala1897=	coding	Benign
17	29086963	G	A	G29086963A	MYO18A	NM_078471.4(MYO18A):c.5685C>T:p.Ala1895=	coding	Benign
17	29097873	C	T	C29097873T	MYO18A	NM_001346765.2(MYO18A):c.4074G>A:p.Gln1358=	coding	Benign
17	29098114	C	T	C29098114T	MYO18A	NM_078471.4(MYO18A):c.3981G>A:p.Lys1327=	coding	Benign
17	29099735	G	A	G29099735A	MYO18A	NM_078471.4(MYO18A):c.3535C>T:p.Arg1179Trp	coding	Benign
17	29109850	G	T	G29109850T	MYO18A	NM_078471.4(MYO18A):c.3331+8C>A	noncoding	Benign
17	29114071	G	A	G29114071A	MYO18A	NM_001346765.2(MYO18A):c.2595C>T:p.Asp865=	coding	Benign
17	29121017	G	A	G29121017A	MYO18A	NM_078471.4(MYO18A):c.1566C>T:p.Ser522=	coding	Benign
17	29121649	G	A	G29121649A	MYO18A	NM_078471.4(MYO18A):c.1269C>T:p.His423=	coding	Benign
17	29121895	G	A	G29121895A	MYO18A	NM_001346765.2(MYO18A):c.1186C>T:p.His396Tyr	coding	Benign
17	29166695	G	A	G29166695A	MYO18A	NM_001346765.2(MYO18A):c.246C>T:p.Asp82=	coding	Benign
17	29166728	G	A	G29166728A	MYO18A	NM_001346765.2(MYO18A):c.213C>T:p.Ala71=	coding	Benign
17	29166932	G	A	G29166932A	MYO18A	NM_001346765.2(MYO18A):c.9C>T:p.Asn3=	coding	Benign
17	29249184	C	T	C29249184T	CRYBA1	NM_005208.4(CRYBA1):c.74C>T:p.Pro25Leu	coding	Benign
17	29249199	C	T	C29249199T	CRYBA1	NM_005208.4(CRYBA1):c.89C>T:p.Pro30Leu	coding	Benign
17	29250301	G	A	G29250301A	CRYBA1	NM_005208.4(CRYBA1):c.215+1G>A	coding	Pathogenic
17	29250301	G	T	G29250301T	CRYBA1	NM_005208.4(CRYBA1):c.215+1G>T	coding	Pathogenic
17	29250316	C	T	C29250316T	CRYBA1	NM_005208.4(CRYBA1):c.215+16C>T	noncoding	Benign
17	29253738	C	T	C29253738T	CRYBA1	NM_005208.4(CRYBA1):c.456C>T:p.Gly152=	coding	Benign
17	29253757	G	A	G29253757A	CRYBA1	NM_005208.4(CRYBA1):c.475G>A:p.Gly159Ser	coding	Benign/Likely_benign
17	29286332	T	C	T29286332C	NUFIP2	NM_020772.3(NUFIP2):c.1662A>G:p.Ser554=	coding	Benign
17	29287200	T	C	T29287200C	NUFIP2	NM_020772.3(NUFIP2):c.794A>G:p.Tyr265Cys	coding	Benign
17	29287671	A	G	A29287671G	NUFIP2	NM_020772.3(NUFIP2):c.323T>C:p.Leu108Ser	coding	Benign
17	29293916	G	A	G29293916A	NUFIP2	NM_020772.3(NUFIP2):c.144C>T:p.His48=	coding	Benign
17	29294016	C	T	C29294016T	NUFIP2	NM_020772.3(NUFIP2):c.44G>A:p.Ser15Asn	coding	Benign
17	29489668	A	G	A29489668G	TAOK1	NM_020791.2(TAOK1):c.660A>G:p.Glu220=	coding	Benign
17	29498311	C	T	C29498311T	TAOK1	NM_020791.2(TAOK1):c.1000-7C>T	noncoding	Benign
17	29517575	A	G	A29517575G	TAOK1	NM_020791.2(TAOK1):c.1827A>G:p.Gln609=	coding	Benign
17	29522454	C	T	C29522454T	TAOK1	NM_020791.4(TAOK1):c.2083C>T:p.Arg695Ter	coding	Pathogenic
17	29534252	C	T	C29534252T	TAOK1	NM_020791.2(TAOK1):c.2496C>T:p.Arg832=	coding	Benign
17	29582689	C	T	C29582689T	GIT1	NM_014030.4(GIT1):c.405+9G>A	noncoding	Benign
17	29582975	G	A	G29582975A	GIT1	NM_014030.4(GIT1):c.249C>T:p.Pro83=	coding	Benign
17	29630850	A	G	A29630850G	SSH2	NM_001282129.2(SSH2):c.4344T>C:p.Asn1448=	coding	Benign
17	29631179	C	T	C29631179T	SSH2	NM_001282129.2(SSH2):c.4015G>A:p.Gly1339Ser	coding	Benign
17	29631772	G	C	G29631772C	SSH2	NM_001282129.2(SSH2):c.3422C>G:p.Ala1141Gly	coding	Benign
17	29672000	A	G	A29672000G	SSH2	NM_001282129.2(SSH2):c.744T>C:p.Asn248=	coding	Benign
17	30196296	C	A	C30196296A	SLC6A4	NM_001045.6(SLC6A4):c.*2160G>T	noncoding	Benign
17	30211312	C	T	C30211312T	SLC6A4	NM_001045.6(SLC6A4):c.1317G>A:p.Thr439=	coding	Benign
17	30212795	G	A	G30212795A	SLC6A4	NM_001045.6(SLC6A4):c.1149C>T:p.Leu383=	coding	Benign/Likely_benign
17	30221656	A	G	A30221656G	SLC6A4	NM_001045.6(SLC6A4):c.303T>C:p.Asn101=	coding	Benign/Likely_benign
17	30222844	G	T	G30222844T	SLC6A4	NM_001045.6(SLC6A4):c.-149C>A	noncoding	Benign
17	30249058	T	C	T30249058C	BLMH	NM_000386.4(BLMH):c.1327A>G:p.Ile443Val	coding	Benign
17	30378993	C	A	C30378993A	CPD	NM_001304.5(CPD):c.13C>A:p.Arg5=	coding	Benign
17	30422862	A	G	A30422862G	CPD	NM_001304.5(CPD):c.1496A>G:p.Lys499Arg	coding	Benign
17	30431785	T	G	T30431785G	CPD	NM_001304.5(CPD):c.2031T>G:p.Val677=	coding	Benign
17	30445843	C	T	C30445843T	CPD	NM_001304.5(CPD):c.2696C>T:p.Thr899Ile	coding	Benign
17	30879415	G	A	G30879415A	ATAD5	NM_024857.5(ATAD5):c.4013-8G>A	noncoding	Benign
17	30887233	G	A	G30887233A	ATAD5	NM_024857.5(ATAD5):c.4119G>A:p.Glu1373=	coding	Benign
17	30893434	C	T	C30893434T	ATAD5	NM_024857.5(ATAD5):c.4581C>T:p.Asn1527=	coding	Benign
17	30893563	G	A	G30893563A	ATAD5	NM_024857.5(ATAD5):c.4710G>A:p.Leu1570=	coding	Benign
17	30893779	T	G	T30893779G	ATAD5	NM_024857.5(ATAD5):c.4926T>G:p.Val1642=	coding	Benign
17	30971202	C	T	C30971202T	RNF135	NM_032322.4(RNF135):c.129C>T:p.His43=	coding	Benign
17	30971365	C	G	C30971365G	RNF135	NM_032322.4(RNF135):c.292C>G:p.Pro98Ala	coding	Benign
17	30971372	A	G	A30971372G	RNF135	NM_032322.4(RNF135):c.299A>G:p.His100Arg	coding	Benign/Likely_benign
17	30971417	G	A	G30971417A	RNF135	NM_032322.4(RNF135):c.344G>A:p.Arg115Lys	coding	Benign
17	30987954	C	G	C30987954G	RNF135	NM_032322.4(RNF135):c.527C>G:p.Ser176Cys	coding	Benign
17	30988000	C	T	C30988000T	RNF135	NM_032322.4(RNF135):c.573C>T:p.Asp191=	coding	Benign
17	30988096	A	G	A30988096G	RNF135	NM_032322.4(RNF135):c.669A>G:p.Ala223=	coding	Benign
17	30998748	C	T	C30998748T	RNF135	NM_032322.4(RNF135):c.856C>T:p.Arg286Cys	coding	Benign
17	31095288	G	C	G31095288C	NF1	NM_000267.3(NF1):c.-22G>C	noncoding	Benign/Likely_benign
17	31095310	A	G	A31095310G	NF1	NM_000267.3(NF1):c.1A>G:p.Met1Val	coding	Pathogenic
17	31095311	T	C	T31095311C	NF1	NM_000267.3(NF1):c.2T>C:p.Met1Thr	coding	Pathogenic
17	31095311	T	G	T31095311G	NF1	NM_000267.3(NF1):c.2T>G:p.Met1Arg	coding	Pathogenic
17	31095312	G	C	G31095312C	NF1	NM_001042492.3(NF1):c.3G>C:p.Met1Ile	coding	Pathogenic
17	31095335	G	A	G31095335A	NF1	NM_000267.3(NF1):c.26G>A:p.Trp9Ter	coding	Pathogenic
17	31095340	C	T	C31095340T	NF1	NM_000267.3(NF1):c.31C>T:p.Gln11Ter	coding	Pathogenic/Likely_pathogenic
17	31095364	G	T	G31095364T	NF1	NM_000267.3(NF1):c.55G>T:p.Glu19Ter	coding	Pathogenic
17	31095367	C	T	C31095367T	NF1	NM_000267.3(NF1):c.58C>T:p.Gln20Ter	coding	Pathogenic
17	31155683	C	T	C31155683T	NF1	NM_000267.3(NF1):c.61-300C>T	noncoding	Benign
17	31155981	A	G	A31155981G	NF1	NM_000267.3(NF1):c.61-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31155982	G	A	G31155982A	NF1	NM_001042492.3(NF1):c.61-1G>A	noncoding	Pathogenic
17	31156001	C	T	C31156001T	NF1	NM_000267.3(NF1):c.79C>T:p.Gln27Ter	coding	Pathogenic/Likely_pathogenic
17	31156004	C	T	C31156004T	NF1	NM_000267.3(NF1):c.82C>T:p.Gln28Ter	coding	Pathogenic
17	31156019	A	T	A31156019T	NF1	NM_000267.3(NF1):c.97A>T:p.Lys33Ter	coding	Pathogenic
17	31156043	G	T	G31156043T	NF1	NM_000267.3(NF1):c.121G>T:p.Glu41Ter	coding	Pathogenic
17	31156069	C	G	C31156069G	NF1	NM_001042492.3(NF1):c.147C>G:p.Tyr49Ter	coding	Pathogenic
17	31156090	C	T	C31156090T	NF1	NM_001042492.3(NF1):c.168C>T:p.Ser56=	coding	Benign
17	31156127	G	A	G31156127A	NF1	NM_000267.3(NF1):c.204+1G>A	coding	Pathogenic
17	31156127	G	T	G31156127T	NF1	NM_001042492.3(NF1):c.204+1G>T	coding	Pathogenic
17	31158991	T	A	T31158991A	NF1	NM_001042492.3(NF1):c.205-19T>A	noncoding	Pathogenic
17	31159004	T	A	T31159004A	NF1	NM_001042492.3(NF1):c.205-6T>A	noncoding	Pathogenic
17	31159008	A	G	A31159008G	NF1	NM_000267.3(NF1):c.205-2A>G	noncoding	Pathogenic
17	31159009	G	A	G31159009A	NF1	NM_001042492.3(NF1):c.205-1G>A	noncoding	Pathogenic
17	31159009	G	C	G31159009C	NF1	NM_000267.3(NF1):c.205-1G>C	noncoding	Pathogenic
17	31159041	T	G	T31159041G	NF1	NM_000267.3(NF1):c.236T>G:p.Leu79Ter	coding	Pathogenic
17	31159052	C	T	C31159052T	NF1	NM_000267.3(NF1):c.247C>T:p.Gln83Ter	coding	Pathogenic
17	31159053	A	C	A31159053C	NF1	NM_000267.3(NF1):c.248A>C:p.Gln83Pro	coding	Pathogenic
17	31159084	T	A	T31159084A	NF1	NM_000267.3(NF1):c.279T>A:p.Cys93Ter	coding	Pathogenic
17	31159094	G	A	G31159094A	NF1	NM_001042492.3(NF1):c.288+1G>A	coding	Pathogenic
17	31159094	G	C	G31159094C	NF1	NM_000267.3(NF1):c.288+1G>C	coding	Pathogenic
17	31159094	G	T	G31159094T	NF1	NM_000267.3(NF1):c.288+1G>T	coding	Pathogenic
17	31159095	T	A	T31159095A	NF1	NM_000267.3(NF1):c.288+2T>A	noncoding	Pathogenic
17	31159095	T	C	T31159095C	NF1	NM_000267.3(NF1):c.288+2T>C	noncoding	Pathogenic
17	31159098	G	A	G31159098A	NF1	NM_000267.3(NF1):c.288+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	31159098	G	T	G31159098T	NF1	NM_000267.3(NF1):c.288+5G>T	noncoding	Pathogenic
17	31159134	G	A	G31159134A	NF1	NM_000267.3(NF1):c.288+41G>A	noncoding	Benign
17	31163180	T	G	T31163180G	NF1	NM_001042492.3(NF1):c.289-6T>G	noncoding	Pathogenic
17	31163186	C	T	C31163186T	NF1	NM_001042492.3(NF1):c.289C>T:p.Gln97Ter	coding	Pathogenic
17	31163208	T	G	T31163208G	NF1	NM_000267.3(NF1):c.311T>G:p.Leu104Ter	coding	Pathogenic
17	31163218	G	A	G31163218A	NF1	NM_000267.3(NF1):c.321G>A:p.Thr107=	coding	Benign/Likely_benign
17	31163231	C	T	C31163231T	NF1	NM_000267.3(NF1):c.334C>T:p.Gln112Ter	coding	Pathogenic
17	31163235	T	A	T31163235A	NF1	NM_001042492.3(NF1):c.338T>A:p.Leu113Ter	coding	Pathogenic
17	31163237	C	T	C31163237T	NF1	NM_000267.3(NF1):c.340C>T:p.Leu114=	coding	Benign/Likely_benign
17	31163266	C	G	C31163266G	NF1	NM_000267.3(NF1):c.369C>G:p.Thr123=	coding	Benign/Likely_benign
17	31163309	G	C	G31163309C	NF1	NM_000267.3(NF1):c.412G>C:p.Ala138Pro	coding	Pathogenic
17	31163377	G	A	G31163377A	NF1	NM_000267.3(NF1):c.479+1G>A	coding	Pathogenic
17	31163377	G	C	G31163377C	NF1	NM_001042492.3(NF1):c.479+1G>C	coding	Pathogenic
17	31163377	G	T	G31163377T	NF1	NM_000267.3(NF1):c.479+1G>T	coding	Pathogenic/Likely_pathogenic
17	31163381	G	A	G31163381A	NF1	NM_000267.3(NF1):c.479+5G>A	noncoding	Pathogenic
17	31163584	C	T	C31163584T	NF1	NM_000267.3(NF1):c.479+208C>T	noncoding	Benign
17	31169883	C	G	C31169883G	NF1	NM_001042492.3(NF1):c.480-8C>G	noncoding	Pathogenic
17	31169889	A	G	A31169889G	NF1	NM_000267.3(NF1):c.480-2A>G	noncoding	Pathogenic
17	31169890	G	A	G31169890A	NF1	NM_001042492.3(NF1):c.480-1G>A	noncoding	Pathogenic
17	31169895	C	T	C31169895T	NF1	NM_000267.3(NF1):c.484C>T:p.Gln162Ter	coding	Pathogenic
17	31169898	G	T	G31169898T	NF1	NM_001042492.3(NF1):c.487G>T:p.Glu163Ter	coding	Pathogenic
17	31169914	C	G	C31169914G	NF1	NM_000267.3(NF1):c.503C>G:p.Ser168Ter	coding	Pathogenic
17	31169952	C	T	C31169952T	NF1	NM_000267.3(NF1):c.541C>T:p.Gln181Ter	coding	Pathogenic
17	31169980	T	G	T31169980G	NF1	NM_000267.3(NF1):c.569T>G:p.Leu190Ter	coding	Pathogenic
17	31169985	C	T	C31169985T	NF1	NM_000267.3(NF1):c.574C>T:p.Arg192Ter	coding	Pathogenic
17	31169992	T	C	T31169992C	NF1	NM_000267.3(NF1):c.581T>C:p.Leu194Pro	coding	Pathogenic
17	31169998	G	A	G31169998A	NF1	NM_000267.3(NF1):c.586+1G>A	coding	Pathogenic
17	31181408	T	A	T31181408A	NF1	NM_001042492.3(NF1):c.587-14T>A	noncoding	Pathogenic
17	31181420	A	T	A31181420T	NF1	NM_000267.3(NF1):c.587-2A>T	noncoding	Pathogenic
17	31181460	C	T	C31181460T	NF1	NM_000267.3(NF1):c.625C>T:p.Gln209Ter	coding	Pathogenic
17	31181464	T	G	T31181464G	NF1	NM_000267.3(NF1):c.629T>G:p.Leu210Ter	coding	Pathogenic
17	31181482	T	C	T31181482C	NF1	NM_000267.3(NF1):c.647T>C:p.Leu216Pro	coding	Pathogenic
17	31181484	G	T	G31181484T	NF1	NM_000267.3(NF1):c.649G>T:p.Glu217Ter	coding	Pathogenic
17	31181490	G	A	G31181490A	NF1	NM_000267.3(NF1):c.654+1G>A	coding	Pathogenic
17	31181681	T	C	T31181681C	NF1	NM_000267.3(NF1):c.655-29T>C	noncoding	Benign/Likely_benign
17	31181708	A	C	A31181708C	NF1	NM_000267.3(NF1):c.655-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	31181708	A	G	A31181708G	NF1	NM_001042492.3(NF1):c.655-2A>G	noncoding	Pathogenic
17	31181717	G	A	G31181717A	NF1	NM_000267.3(NF1):c.662G>A:p.Trp221Ter	coding	Pathogenic
17	31181718	G	A	G31181718A	NF1	NM_000267.3(NF1):c.663G>A:p.Trp221Ter	coding	Pathogenic
17	31181722	T	C	T31181722C	NF1	NM_000267.3(NF1):c.667T>C:p.Trp223Arg	coding	Pathogenic/Likely_pathogenic
17	31181723	G	A	G31181723A	NF1	NM_000267.3(NF1):c.668G>A:p.Trp223Ter	coding	Pathogenic
17	31181724	G	A	G31181724A	NF1	NM_000267.3(NF1):c.669G>A:p.Trp223Ter	coding	Pathogenic
17	31181736	T	A	T31181736A	NF1	NM_000267.3(NF1):c.681T>A:p.Tyr227Ter	coding	Pathogenic
17	31181736	T	G	T31181736G	NF1	NM_000267.3(NF1):c.681T>G:p.Tyr227Ter	coding	Pathogenic
17	31181743	G	T	G31181743T	NF1	NM_001042492.3(NF1):c.688G>T:p.Glu230Ter	coding	Pathogenic
17	31181757	G	A	G31181757A	NF1	NM_001042492.3(NF1):c.702G>A:p.Leu234=	coding	Benign
17	31181760	C	A	C31181760A	NF1	NM_001042492.3(NF1):c.705C>A:p.Tyr235Ter	coding	Pathogenic
17	31181760	C	G	C31181760G	NF1	NM_000267.3(NF1):c.705C>G:p.Tyr235Ter	coding	Pathogenic
17	31181770	C	T	C31181770T	NF1	NM_000267.3(NF1):c.715C>T:p.Gln239Ter	coding	Pathogenic
17	31181786	G	A	G31181786A	NF1	NM_000267.3(NF1):c.730+1G>A	coding	Pathogenic
17	31181786	G	C	G31181786C	NF1	NM_000267.3(NF1):c.730+1G>C	coding	Pathogenic
17	31181786	G	T	G31181786T	NF1	NM_000267.3(NF1):c.730+1G>T	coding	Pathogenic/Likely_pathogenic
17	31181787	T	G	T31181787G	NF1	NM_000267.3(NF1):c.730+2T>G	noncoding	Benign
17	31182494	T	G	T31182494G	NF1	NM_001042492.3(NF1):c.731-14T>G	noncoding	Pathogenic
17	31182506	A	C	A31182506C	NF1	NM_001042492.3(NF1):c.731-2A>C	noncoding	Pathogenic
17	31182506	A	G	A31182506G	NF1	NM_001042492.3(NF1):c.731-2A>G	noncoding	Pathogenic
17	31182506	A	T	A31182506T	NF1	NM_000267.3(NF1):c.731-2A>T	noncoding	Pathogenic
17	31182507	G	A	G31182507A	NF1	NM_000267.3(NF1):c.731-1G>A	noncoding	Pathogenic
17	31182578	G	A	G31182578A	NF1	NM_000267.3(NF1):c.801G>A:p.Trp267Ter	coding	Pathogenic
17	31182585	C	T	C31182585T	NF1	NM_000267.3(NF1):c.808C>T:p.Gln270Ter	coding	Pathogenic
17	31182604	T	A	T31182604A	NF1	NM_001042492.3(NF1):c.827T>A:p.Leu276Ter	coding	Pathogenic
17	31182621	C	T	C31182621T	NF1	NM_000267.3(NF1):c.844C>T:p.Gln282Ter	coding	Pathogenic
17	31182623	G	A	G31182623A	NF1	NM_001042492.3(NF1):c.846G>A:p.Gln282=	coding	Benign/Likely_benign
17	31182663	A	T	A31182663T	NF1	NM_000267.3(NF1):c.886A>T:p.Lys296Ter	coding	Pathogenic
17	31182666	G	A	G31182666A	NF1	NM_000267.3(NF1):c.888+1G>A	coding	Pathogenic
17	31182666	G	T	G31182666T	NF1	NM_001042492.3(NF1):c.888+1G>T	coding	Pathogenic
17	31182667	T	G	T31182667G	NF1	NM_001042492.3(NF1):c.888+2T>G	noncoding	Pathogenic
17	31182773	C	T	C31182773T	NF1	NM_000267.3(NF1):c.888+108C>T	noncoding	Benign
17	31182783	G	T	G31182783T	NF1	NM_000267.3(NF1):c.888+118G>T	noncoding	Benign
17	31182928	C	T	C31182928T	NF1	NM_000267.3(NF1):c.888+263C>T	noncoding	Benign
17	31200401	C	A	C31200401A	NF1	NM_001042492.3(NF1):c.889-21C>A	noncoding	Pathogenic
17	31200421	G	A	G31200421A	NF1	NM_000267.3(NF1):c.889-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31200421	G	C	G31200421C	NF1	NM_000267.3(NF1):c.889-1G>C	noncoding	Pathogenic
17	31200443	C	T	C31200443T	NF1	NM_000267.3(NF1):c.910C>T:p.Arg304Ter	coding	Pathogenic
17	31200476	C	T	C31200476T	NF1	NM_000267.3(NF1):c.943C>T:p.Gln315Ter	coding	Pathogenic
17	31200493	T	A	T31200493A	NF1	NM_000267.3(NF1):c.960T>A:p.Ala320=	coding	Benign/Likely_benign
17	31200501	C	A	C31200501A	NF1	NM_001042492.3(NF1):c.968C>A:p.Ala323Asp	coding	Pathogenic
17	31200505	T	A	T31200505A	NF1	NM_000267.3(NF1):c.972T>A:p.Cys324Ter	coding	Pathogenic
17	31200522	C	T	C31200522T	NF1	NM_000267.3(NF1):c.989C>T:p.Ala330Val	coding	Pathogenic/Likely_pathogenic
17	31200532	C	G	C31200532G	NF1	NM_000267.3(NF1):c.999C>G:p.Tyr333Ter	coding	Pathogenic
17	31200538	T	C	T31200538C	NF1	NM_000267.3(NF1):c.1005T>C:p.Asn335=	coding	Benign/Likely_benign
17	31200540	G	A	G31200540A	NF1	NM_001042492.3(NF1):c.1007G>A:p.Trp336Ter	coding	Pathogenic
17	31200542	G	T	G31200542T	NF1	NM_000267.3(NF1):c.1009G>T:p.Glu337Ter	coding	Pathogenic
17	31200572	C	T	C31200572T	NF1	NM_000267.3(NF1):c.1039C>T:p.Gln347Ter	coding	Pathogenic
17	31200595	G	C	G31200595C	NF1	NM_000267.3(NF1):c.1062G>C:p.Lys354Asn	coding	Pathogenic
17	31200596	G	A	G31200596A	NF1	NM_000267.3(NF1):c.1062+1G>A	coding	Pathogenic
17	31200597	T	C	T31200597C	NF1	NM_001042492.3(NF1):c.1062+2T>C	noncoding	Pathogenic
17	31200597	T	G	T31200597G	NF1	NM_001042492.3(NF1):c.1062+2T>G	noncoding	Pathogenic
17	31200598	A	G	A31200598G	NF1	NM_000267.3(NF1):c.1062+3A>G	noncoding	Pathogenic/Likely_pathogenic
17	31201023	T	A	T31201023A	NF1	NM_001042492.3(NF1):c.1063-14T>A	noncoding	Pathogenic
17	31201034	T	G	T31201034G	NF1	NM_001042492.3(NF1):c.1063-3T>G	noncoding	Pathogenic
17	31201035	A	G	A31201035G	NF1	NM_000267.3(NF1):c.1063-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31201044	T	C	T31201044C	NF1	NM_000267.3(NF1):c.1070T>C:p.Leu357Pro	coding	Pathogenic
17	31201068	C	A	C31201068A	NF1	NM_000267.3(NF1):c.1094C>A:p.Ser365Ter	coding	Pathogenic
17	31201068	C	G	C31201068G	NF1	NM_000267.3(NF1):c.1094C>G:p.Ser365Ter	coding	Pathogenic
17	31201111	C	T	C31201111T	NF1	NM_000267.3(NF1):c.1137C>T:p.Cys379=	coding	Benign/Likely_benign
17	31201113	T	C	T31201113C	NF1	NM_000267.3(NF1):c.1139T>C:p.Leu380Pro	coding	Pathogenic
17	31201148	C	T	C31201148T	NF1	NM_000267.3(NF1):c.1174C>T:p.Gln392Ter	coding	Pathogenic
17	31201160	G	A	G31201160A	NF1	NM_000267.3(NF1):c.1185+1G>A	coding	Pathogenic
17	31201160	G	T	G31201160T	NF1	NM_001042492.3(NF1):c.1185+1G>T	coding	Pathogenic
17	31201161	T	C	T31201161C	NF1	NM_001042492.3(NF1):c.1185+2T>C	noncoding	Pathogenic
17	31201161	T	G	T31201161G	NF1	NM_000267.3(NF1):c.1185+2T>G	noncoding	Pathogenic
17	31201410	G	A	G31201410A	NF1	NM_001042492.3(NF1):c.1186-1G>A	noncoding	Pathogenic
17	31201423	C	T	C31201423T	NF1	NM_001042492.3(NF1):c.1198C>T:p.Gln400Ter	coding	Pathogenic
17	31201449	T	A	T31201449A	NF1	NM_000267.3(NF1):c.1224T>A:p.Tyr408Ter	coding	Pathogenic
17	31201449	T	G	T31201449G	NF1	NM_001042492.3(NF1):c.1224T>G:p.Tyr408Ter	coding	Pathogenic
17	31201462	T	C	T31201462C	NF1	NM_000267.3(NF1):c.1237T>C:p.Ser413Pro	coding	Pathogenic
17	31201463	C	A	C31201463A	NF1	NM_000267.3(NF1):c.1238C>A:p.Ser413Ter	coding	Pathogenic
17	31201463	C	G	C31201463G	NF1	NM_000267.3(NF1):c.1238C>G:p.Ser413Ter	coding	Pathogenic
17	31201471	C	T	C31201471T	NF1	NM_000267.3(NF1):c.1246C>T:p.Arg416Ter	coding	Pathogenic
17	31201486	G	A	G31201486A	NF1	NM_000267.3(NF1):c.1260+1G>A	coding	Pathogenic
17	31201486	G	C	G31201486C	NF1	NM_001042492.3(NF1):c.1260+1G>C	coding	Pathogenic
17	31201486	G	T	G31201486T	NF1	NM_000267.3(NF1):c.1260+1G>T	coding	Pathogenic
17	31201490	G	A	G31201490A	NF1	NM_000267.3(NF1):c.1260+5G>A	noncoding	Pathogenic
17	31201544	G	A	G31201544A	NF1	NM_000267.3(NF1):c.1260+59G>A	noncoding	Benign
17	31203089	A	G	A31203089G	NF1	NM_000267.3(NF1):c.1260+1604A>G	noncoding	Pathogenic
17	31203332	A	C	A31203332C	NF1	NM_000267.3(NF1):c.1260+1847A>C	noncoding	Benign
17	31203344	C	T	C31203344T	NF1	NM_000267.3(NF1):c.1260+1859C>T	noncoding	Benign
17	31206219	T	G	T31206219G	NF1	NM_001042492.3(NF1):c.1261-21T>G	noncoding	Pathogenic
17	31206221	G	A	G31206221A	NF1	NM_001042492.3(NF1):c.1261-19G>A	noncoding	Pathogenic/Likely_pathogenic
17	31206227	T	A	T31206227A	NF1	NM_001042492.3(NF1):c.1261-13T>A	noncoding	Pathogenic
17	31206238	A	G	A31206238G	NF1	NM_001042492.3(NF1):c.1261-2A>G	noncoding	Pathogenic
17	31206238	A	T	A31206238T	NF1	NM_001042492.3(NF1):c.1261-2A>T	noncoding	Pathogenic
17	31206254	G	A	G31206254A	NF1	NM_001042492.3(NF1):c.1275G>A:p.Trp425Ter	coding	Pathogenic
17	31206257	G	A	G31206257A	NF1	NM_000267.3(NF1):c.1278G>A:p.Trp426Ter	coding	Pathogenic
17	31206278	T	A	T31206278A	NF1	NM_000267.3(NF1):c.1299T>A:p.Tyr433Ter	coding	Pathogenic
17	31206278	T	G	T31206278G	NF1	NM_000267.3(NF1):c.1299T>G:p.Tyr433Ter	coding	Pathogenic
17	31206281	T	A	T31206281A	NF1	NM_000267.3(NF1):c.1302T>A:p.Cys434Ter	coding	Pathogenic
17	31206297	C	T	C31206297T	NF1	NM_000267.3(NF1):c.1318C>T:p.Arg440Ter	coding	Pathogenic
17	31206333	C	T	C31206333T	NF1	NM_000267.3(NF1):c.1354C>T:p.Gln452Ter	coding	Pathogenic
17	31206341	T	A	T31206341A	NF1	NM_001042492.3(NF1):c.1362T>A:p.Cys454Ter	coding	Pathogenic
17	31206360	C	T	C31206360T	NF1	NM_000267.3(NF1):c.1381C>T:p.Arg461Ter	coding	Pathogenic
17	31206372	G	A	G31206372A	NF1	NM_001042492.3(NF1):c.1392+1G>A	coding	Pathogenic
17	31206372	G	C	G31206372C	NF1	NM_001042492.3(NF1):c.1392+1G>C	coding	Pathogenic
17	31214043	T	C	T31214043C	NF1	NM_000267.3(NF1):c.1393-408T>C	noncoding	Benign
17	31214112	A	G	A31214112G	NF1	NM_000267.3(NF1):c.1393-339A>G	noncoding	Benign
17	31214321	A	T	A31214321T	NF1	NM_000267.3(NF1):c.1393-130A>T	noncoding	Benign
17	31214419	T	C	T31214419C	NF1	NM_000267.3(NF1):c.1393-32T>C	noncoding	Benign
17	31214466	G	T	G31214466T	NF1	NM_001042492.3(NF1):c.1408G>T:p.Glu470Ter	coding	Pathogenic/Likely_pathogenic
17	31214511	G	T	G31214511T	NF1	NM_000267.3(NF1):c.1453G>T:p.Glu485Ter	coding	Pathogenic
17	31214524	A	G	A31214524G	NF1	NM_000267.3(NF1):c.1466A>G:p.Tyr489Cys	coding	Pathogenic
17	31214525	T	A	T31214525A	NF1	NM_000267.3(NF1):c.1467T>A:p.Tyr489Ter	coding	Pathogenic
17	31214554	T	G	T31214554G	NF1	NM_000267.3(NF1):c.1496T>G:p.Leu499Arg	coding	Pathogenic/Likely_pathogenic
17	31214581	T	C	T31214581C	NF1	NM_000267.3(NF1):c.1523T>C:p.Leu508Pro	coding	Pathogenic
17	31214586	G	A	G31214586A	NF1	NM_000267.3(NF1):c.1527+1G>A	coding	Pathogenic/Likely_pathogenic
17	31214586	G	C	G31214586C	NF1	NM_000267.3(NF1):c.1527+1G>C	coding	Pathogenic
17	31214586	G	T	G31214586T	NF1	NM_000267.3(NF1):c.1527+1G>T	coding	Pathogenic
17	31214590	G	T	G31214590T	NF1	NM_000267.3(NF1):c.1527+5G>T	noncoding	Pathogenic
17	31215711	G	T	G31215711T	NF1	NM_000267.3(NF1):c.1527+1126G>T	noncoding	Benign
17	31215899	T	A	T31215899A	NF1	NM_000267.3(NF1):c.1527+1314T>A	noncoding	Benign
17	31219017	C	T	C31219017T	NF1	NM_000267.3(NF1):c.1540C>T:p.Gln514Ter	coding	Pathogenic
17	31219026	G	T	G31219026T	NF1	NM_000267.3(NF1):c.1549G>T:p.Glu517Ter	coding	Pathogenic
17	31219032	C	T	C31219032T	NF1	NM_001042492.3(NF1):c.1555C>T:p.Gln519Ter	coding	Pathogenic
17	31219047	G	T	G31219047T	NF1	NM_000267.3(NF1):c.1570G>T:p.Glu524Ter	coding	Pathogenic
17	31219068	C	T	C31219068T	NF1	NM_000267.3(NF1):c.1591C>T:p.Gln531Ter	coding	Pathogenic
17	31219072	T	C	T31219072C	NF1	NM_000267.3(NF1):c.1595T>C:p.Leu532Pro	coding	Pathogenic
17	31219072	T	G	T31219072G	NF1	NM_000267.3(NF1):c.1595T>G:p.Leu532Arg	coding	Pathogenic
17	31219076	C	G	C31219076G	NF1	NM_000267.3(NF1):c.1599C>G:p.Val533=	coding	Benign/Likely_benign
17	31219080	C	T	C31219080T	NF1	NM_000267.3(NF1):c.1603C>T:p.Gln535Ter	coding	Pathogenic
17	31219084	C	A	C31219084A	NF1	NM_000267.3(NF1):c.1607C>A:p.Ser536Ter	coding	Pathogenic
17	31219095	G	T	G31219095T	NF1	NM_000267.3(NF1):c.1618G>T:p.Glu540Ter	coding	Pathogenic
17	31219104	C	T	C31219104T	NF1	NM_000267.3(NF1):c.1627C>T:p.Gln543Ter	coding	Pathogenic
17	31219157	T	C	T31219157C	NF1	NM_000267.3(NF1):c.1641+39T>C	noncoding	Benign
17	31221842	A	G	A31221842G	NF1	NM_000267.3(NF1):c.1642-8A>G	noncoding	Pathogenic
17	31221843	A	G	A31221843G	NF1	NM_001042492.3(NF1):c.1642-7A>G	noncoding	Pathogenic
17	31221848	A	T	A31221848T	NF1	NM_000267.3(NF1):c.1642-2A>T	noncoding	Pathogenic
17	31221849	G	A	G31221849A	NF1	NM_000267.3(NF1):c.1642-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31221849	G	T	G31221849T	NF1	NM_000267.3(NF1):c.1642-1G>T	noncoding	Pathogenic
17	31221854	T	C	T31221854C	NF1	NM_000267.3(NF1):c.1646T>C:p.Leu549Pro	coding	Pathogenic/Likely_pathogenic
17	31221861	T	A	T31221861A	NF1	NM_000267.3(NF1):c.1653T>A:p.Val551=	coding	Benign
17	31221866	A	G	A31221866G	NF1	NM_000267.3(NF1):c.1658A>G:p.His553Arg	coding	Pathogenic/Likely_pathogenic
17	31221868	C	T	C31221868T	NF1	NM_000267.3(NF1):c.1660C>T:p.Gln554Ter	coding	Pathogenic/Likely_pathogenic
17	31221891	G	A	G31221891A	NF1	NM_000267.3(NF1):c.1683G>A:p.Trp561Ter	coding	Pathogenic
17	31221920	G	A	G31221920A	NF1	NM_001042492.3(NF1):c.1712G>A:p.Trp571Ter	coding	Pathogenic
17	31221921	G	A	G31221921A	NF1	NM_000267.3(NF1):c.1713G>A:p.Trp571Ter	coding	Pathogenic
17	31221929	G	A	G31221929A	NF1	NM_000267.3(NF1):c.1721G>A:p.Ser574Asn	coding	Pathogenic/Likely_pathogenic
17	31221930	G	A	G31221930A	NF1	NM_001042492.3(NF1):c.1721+1G>A	coding	Pathogenic
17	31221930	G	C	G31221930C	NF1	NM_000267.3(NF1):c.1721+1G>C	coding	Pathogenic
17	31221930	G	T	G31221930T	NF1	NM_000267.3(NF1):c.1721+1G>T	coding	Pathogenic
17	31221932	A	G	A31221932G	NF1	NM_000267.3(NF1):c.1721+3A>G	coding	Pathogenic
17	31223123	G	A	G31223123A	NF1	NM_000267.3(NF1):c.1722-321G>A	noncoding	Benign
17	31223418	T	C	T31223418C	NF1	NM_001042492.3(NF1):c.1722-26T>C	noncoding	Pathogenic
17	31223433	T	G	T31223433G	NF1	NM_001042492.3(NF1):c.1722-11T>G	noncoding	Pathogenic
17	31223441	C	A	C31223441A	NF1	NM_001042492.3(NF1):c.1722-3C>A	noncoding	Pathogenic
17	31223442	A	G	A31223442G	NF1	NM_000267.3(NF1):c.1722-2A>G	noncoding	Pathogenic
17	31223446	C	G	C31223446G	NF1	NM_000267.3(NF1):c.1724C>G:p.Ser575Ter	coding	Pathogenic
17	31223448	C	T	C31223448T	NF1	NM_000267.3(NF1):c.1726C>T:p.Gln576Ter	coding	Pathogenic
17	31223470	A	G	A31223470G	NF1	NM_000267.3(NF1):c.1748A>G:p.Lys583Arg	coding	Pathogenic/Likely_pathogenic
17	31223476	T	G	T31223476G	NF1	NM_000267.3(NF1):c.1754T>G:p.Leu585Ter	coding	Pathogenic
17	31223487	C	T	C31223487T	NF1	NM_000267.3(NF1):c.1765C>T:p.Gln589Ter	coding	Pathogenic
17	31223505	G	T	G31223505T	NF1	NM_000267.3(NF1):c.1783G>T:p.Glu595Ter	coding	Pathogenic
17	31223518	G	A	G31223518A	NF1	NM_000267.3(NF1):c.1796G>A:p.Trp599Ter	coding	Pathogenic
17	31223519	G	A	G31223519A	NF1	NM_000267.3(NF1):c.1797G>A:p.Trp599Ter	coding	Pathogenic
17	31223532	T	C	T31223532C	NF1	NM_001042492.3(NF1):c.1810T>C:p.Leu604=	coding	Benign/Likely_benign
17	31223533	T	A	T31223533A	NF1	NM_000267.3(NF1):c.1811T>A:p.Leu604Ter	coding	Pathogenic
17	31223540	C	A	C31223540A	NF1	NM_000267.3(NF1):c.1818C>A:p.Cys606Ter	coding	Pathogenic
17	31223568	G	A	G31223568A	NF1	NM_000267.3(NF1):c.1845+1G>A	coding	Pathogenic
17	31223569	T	A	T31223569A	NF1	NM_001042492.3(NF1):c.1845+2T>A	noncoding	Pathogenic
17	31223580	A	T	A31223580T	NF1	NM_001042492.3(NF1):c.1845+13A>T	noncoding	Benign
17	31225056	C	T	C31225056T	NF1	NM_000267.3(NF1):c.1846-39C>T	noncoding	Benign
17	31225083	A	T	A31225083T	NF1	NM_000267.3(NF1):c.1846-12A>T	noncoding	Benign/Likely_benign
17	31225115	T	A	T31225115A	NF1	NM_000267.3(NF1):c.1866T>A:p.Cys622Ter	coding	Pathogenic
17	31225133	C	A	C31225133A	NF1	NM_000267.3(NF1):c.1884C>A:p.Tyr628Ter	coding	Pathogenic
17	31225134	G	A	G31225134A	NF1	NM_000267.3(NF1):c.1885G>A:p.Gly629Arg	coding	Pathogenic
17	31225161	G	T	G31225161T	NF1	NM_000267.3(NF1):c.1912G>T:p.Gly638Ter	coding	Pathogenic
17	31225173	C	T	C31225173T	NF1	NM_001042492.3(NF1):c.1924C>T:p.Gln642Ter	coding	Pathogenic
17	31225182	A	G	A31225182G	NF1	NM_000267.3(NF1):c.1933A>G:p.Met645Val	coding	Benign
17	31225191	G	T	G31225191T	NF1	NM_001042492.3(NF1):c.1942G>T:p.Glu648Ter	coding	Pathogenic
17	31225198	T	A	T31225198A	NF1	NM_000267.3(NF1):c.1949T>A:p.Leu650Ter	coding	Pathogenic
17	31225233	A	T	A31225233T	NF1	NM_000267.3(NF1):c.1984A>T:p.Lys662Ter	coding	Pathogenic
17	31225448	G	A	G31225448A	NF1	NM_000267.3(NF1):c.2001+198G>A	noncoding	Benign
17	31226434	G	A	G31226434A	NF1	NM_000267.3(NF1):c.2002-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31226452	C	A	C31226452A	NF1	NM_001042492.3(NF1):c.2019C>A:p.Cys673Ter	coding	Pathogenic
17	31226455	C	T	C31226455T	NF1	NM_001042492.3(NF1):c.2022C>T:p.Ser674=	coding	Benign
17	31226467	G	A	G31226467A	NF1	NM_001042492.3(NF1):c.2034G>A:p.Pro678=	coding	Benign
17	31226474	C	T	C31226474T	NF1	NM_000267.3(NF1):c.2041C>T:p.Arg681Ter	coding	Pathogenic
17	31226477	C	T	C31226477T	NF1	NM_001042492.3(NF1):c.2044C>T:p.Gln682Ter	coding	Pathogenic
17	31226483	C	T	C31226483T	NF1	NM_001042492.3(NF1):c.2050C>T:p.Gln684Ter	coding	Pathogenic
17	31226495	G	T	G31226495T	NF1	NM_000267.3(NF1):c.2062G>T:p.Glu688Ter	coding	Pathogenic
17	31226517	T	C	T31226517C	NF1	NM_000267.3(NF1):c.2084T>C:p.Leu695Pro	coding	Pathogenic
17	31226521	G	A	G31226521A	NF1	NM_000267.3(NF1):c.2088G>A:p.Trp696Ter	coding	Pathogenic
17	31226558	T	C	T31226558C	NF1	NM_000267.3(NF1):c.2125T>C:p.Cys709Arg	coding	Pathogenic/Likely_pathogenic
17	31226560	T	A	T31226560A	NF1	NM_001042492.3(NF1):c.2127T>A:p.Cys709Ter	coding	Pathogenic
17	31226575	T	A	T31226575A	NF1	NM_000267.3(NF1):c.2142T>A:p.Cys714Ter	coding	Pathogenic
17	31226596	T	A	T31226596A	NF1	NM_000267.3(NF1):c.2163T>A:p.Cys721Ter	coding	Pathogenic/Likely_pathogenic
17	31226644	A	T	A31226644T	NF1	NM_000267.3(NF1):c.2211A>T:p.Thr737=	coding	Benign
17	31226651	G	T	G31226651T	NF1	NM_000267.3(NF1):c.2218G>T:p.Glu740Ter	coding	Pathogenic
17	31226685	G	A	G31226685A	NF1	NM_000267.3(NF1):c.2251+1G>A	coding	Pathogenic
17	31227184	T	C	T31227184C	NF1	NM_000267.3(NF1):c.2252-34T>C	noncoding	Benign/Likely_benign
17	31227187	A	T	A31227187T	NF1	NM_000267.3(NF1):c.2252-31A>T	noncoding	Benign
17	31227205	T	A	T31227205A	NF1	NM_001042492.3(NF1):c.2252-13T>A	noncoding	Pathogenic
17	31227215	T	G	T31227215G	NF1	NM_000267.3(NF1):c.2252-3T>G	noncoding	Pathogenic/Likely_pathogenic
17	31227216	A	C	A31227216C	NF1	NM_000267.3(NF1):c.2252-2A>C	noncoding	Pathogenic
17	31227216	A	G	A31227216G	NF1	NM_000267.3(NF1):c.2252-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31227217	G	A	G31227217A	NF1	NM_000267.3(NF1):c.2252-1G>A	noncoding	Pathogenic
17	31227232	C	T	C31227232T	NF1	NM_000267.3(NF1):c.2266C>T:p.Gln756Ter	coding	Pathogenic
17	31227238	A	T	A31227238T	NF1	NM_000267.3(NF1):c.2272A>T:p.Arg758Ter	coding	Pathogenic
17	31227254	T	C	T31227254C	NF1	NM_001042492.3(NF1):c.2288T>C:p.Leu763Pro	coding	Pathogenic/Likely_pathogenic
17	31227254	T	G	T31227254G	NF1	NM_000267.3(NF1):c.2288T>G:p.Leu763Arg	coding	Pathogenic/Likely_pathogenic
17	31227291	G	C	G31227291C	NF1	NM_001042492.3(NF1):c.2325G>C:p.Glu775Asp	coding	Pathogenic
17	31227291	G	T	G31227291T	NF1	NM_000267.3(NF1):c.2325G>T:p.Glu775Asp	coding	Pathogenic
17	31227292	G	A	G31227292A	NF1	NM_000267.3(NF1):c.2325+1G>A	coding	Pathogenic
17	31227292	G	T	G31227292T	NF1	NM_000267.3(NF1):c.2325+1G>T	coding	Pathogenic
17	31227293	T	C	T31227293C	NF1	NM_000267.3(NF1):c.2325+2T>C	noncoding	Pathogenic
17	31227294	A	G	A31227294G	NF1	NM_000267.3(NF1):c.2325+3A>G	noncoding	Pathogenic
17	31227517	T	G	T31227517G	NF1	NM_001042492.3(NF1):c.2326-6T>G	noncoding	Pathogenic
17	31227521	A	G	A31227521G	NF1	NM_000267.3(NF1):c.2326-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31227526	T	C	T31227526C	NF1	NM_000267.3(NF1):c.2329T>C:p.Trp777Arg	coding	Pathogenic
17	31227527	G	A	G31227527A	NF1	NM_001042492.3(NF1):c.2330G>A:p.Trp777Ter	coding	Pathogenic
17	31227528	G	A	G31227528A	NF1	NM_000267.3(NF1):c.2331G>A:p.Trp777Ter	coding	Pathogenic
17	31227536	C	A	C31227536A	NF1	NM_000267.3(NF1):c.2339C>A:p.Thr780Lys	coding	Pathogenic/Likely_pathogenic
17	31227536	C	G	C31227536G	NF1	NM_000267.3(NF1):c.2339C>G:p.Thr780Arg	coding	Pathogenic/Likely_pathogenic
17	31227549	G	A	G31227549A	NF1	NM_000267.3(NF1):c.2352G>A:p.Trp784Ter	coding	Pathogenic
17	31227553	C	T	C31227553T	NF1	NM_000267.3(NF1):c.2356C>T:p.Gln786Ter	coding	Pathogenic
17	31227604	C	T	C31227604T	NF1	NM_000267.3(NF1):c.2407C>T:p.Gln803Ter	coding	Pathogenic
17	31227607	G	A	G31227607A	NF1	NM_000267.3(NF1):c.2409+1G>A	coding	Pathogenic
17	31227607	G	C	G31227607C	NF1	NM_000267.3(NF1):c.2409+1G>C	coding	Pathogenic
17	31227607	G	T	G31227607T	NF1	NM_000267.3(NF1):c.2409+1G>T	coding	Pathogenic
17	31227608	T	G	T31227608G	NF1	NM_000267.3(NF1):c.2409+2T>G	noncoding	Pathogenic
17	31229009	A	G	A31229009G	NF1	NM_000267.3(NF1):c.2410-16A>G	noncoding	Pathogenic/Likely_pathogenic
17	31229010	A	G	A31229010G	NF1	NM_001042492.3(NF1):c.2410-15A>G	noncoding	Pathogenic
17	31229011	A	G	A31229011G	NF1	NM_001042492.3(NF1):c.2410-14A>G	noncoding	Pathogenic
17	31229012	A	G	A31229012G	NF1	NM_001042492.3(NF1):c.2410-13A>G	noncoding	Pathogenic
17	31229016	T	A	T31229016A	NF1	NM_001042492.3(NF1):c.2410-9T>A	noncoding	Pathogenic
17	31229022	T	G	T31229022G	NF1	NM_001042492.3(NF1):c.2410-3T>G	noncoding	Pathogenic
17	31229024	G	A	G31229024A	NF1	NM_000267.3(NF1):c.2410-1G>A	noncoding	Pathogenic
17	31229024	G	C	G31229024C	NF1	NM_000267.3(NF1):c.2410-1G>C	noncoding	Pathogenic
17	31229061	C	T	C31229061T	NF1	NM_000267.3(NF1):c.2446C>T:p.Arg816Ter	coding	Pathogenic
17	31229079	G	T	G31229079T	NF1	NM_001042492.3(NF1):c.2464G>T:p.Gly822Ter	coding	Pathogenic
17	31229118	C	T	C31229118T	NF1	NM_000267.3(NF1):c.2503C>T:p.Gln835Ter	coding	Pathogenic
17	31229121	G	T	G31229121T	NF1	NM_001042492.3(NF1):c.2506G>T:p.Glu836Ter	coding	Pathogenic
17	31229125	G	A	G31229125A	NF1	NM_000267.3(NF1):c.2510G>A:p.Trp837Ter	coding	Pathogenic
17	31229126	G	A	G31229126A	NF1	NM_000267.3(NF1):c.2511G>A:p.Trp837Ter	coding	Pathogenic
17	31229145	C	T	C31229145T	NF1	NM_000267.3(NF1):c.2530C>T:p.Leu844Phe	coding	Pathogenic/Likely_pathogenic
17	31229146	T	A	T31229146A	NF1	NM_001042492.3(NF1):c.2531T>A:p.Leu844His	coding	Pathogenic
17	31229146	T	C	T31229146C	NF1	NM_000267.3(NF1):c.2531T>C:p.Leu844Pro	coding	Pathogenic
17	31229146	T	G	T31229146G	NF1	NM_000267.3(NF1):c.2531T>G:p.Leu844Arg	coding	Pathogenic
17	31229148	T	C	T31229148C	NF1	NM_000267.3(NF1):c.2533T>C:p.Cys845Arg	coding	Pathogenic
17	31229149	G	A	G31229149A	NF1	NM_000267.3(NF1):c.2534G>A:p.Cys845Tyr	coding	Pathogenic
17	31229151	G	C	G31229151C	NF1	NM_001042492.3(NF1):c.2536G>C:p.Ala846Pro	coding	Pathogenic
17	31229152	C	A	C31229152A	NF1	NM_000267.3(NF1):c.2537C>A:p.Ala846Asp	coding	Pathogenic
17	31229155	T	C	T31229155C	NF1	NM_000267.3(NF1):c.2540T>C:p.Leu847Pro	coding	Pathogenic/Likely_pathogenic
17	31229155	T	G	T31229155G	NF1	NM_000267.3(NF1):c.2540T>G:p.Leu847Arg	coding	Pathogenic
17	31229156	T	C	T31229156C	NF1	NM_000267.3(NF1):c.2541T>C:p.Leu847=	coding	Benign/Likely_benign
17	31229157	G	A	G31229157A	NF1	NM_000267.3(NF1):c.2542G>A:p.Gly848Arg	coding	Pathogenic
17	31229157	G	C	G31229157C	NF1	NM_000267.3(NF1):c.2542G>C:p.Gly848Arg	coding	Pathogenic/Likely_pathogenic
17	31229158	G	A	G31229158A	NF1	NM_000267.3(NF1):c.2543G>A:p.Gly848Glu	coding	Pathogenic
17	31229159	G	A	G31229159A	NF1	NM_001042492.3(NF1):c.2544G>A:p.Gly848=	coding	Benign
17	31229160	G	T	G31229160T	NF1	NM_000267.3(NF1):c.2545G>T:p.Gly849Ter	coding	Pathogenic
17	31229168	C	A	C31229168A	NF1	NM_001042492.3(NF1):c.2553C>A:p.Cys851Ter	coding	Pathogenic
17	31229168	C	T	C31229168T	NF1	NM_001042492.3(NF1):c.2553C>T:p.Cys851=	coding	Benign/Likely_benign
17	31229175	C	T	C31229175T	NF1	NM_000267.3(NF1):c.2560C>T:p.Gln854Ter	coding	Pathogenic/Likely_pathogenic
17	31229204	T	G	T31229204G	NF1	NM_000267.3(NF1):c.2589T>G:p.Tyr863Ter	coding	Pathogenic
17	31229308	T	C	T31229308C	NF1	NM_000267.3(NF1):c.2693T>C:p.Leu898Pro	coding	Pathogenic/Likely_pathogenic
17	31229317	T	G	T31229317G	NF1	NM_000267.3(NF1):c.2702T>G:p.Leu901Ter	coding	Pathogenic
17	31229324	G	A	G31229324A	NF1	NM_000267.3(NF1):c.2709G>A:p.Val903=	coding	Pathogenic
17	31229349	C	T	C31229349T	NF1	NM_000267.3(NF1):c.2734C>T:p.Gln912Ter	coding	Pathogenic
17	31229389	T	A	T31229389A	NF1	NM_001042492.3(NF1):c.2774T>A:p.Leu925Ter	coding	Pathogenic
17	31229401	T	C	T31229401C	NF1	NM_000267.3(NF1):c.2786T>C:p.Leu929Pro	coding	Pathogenic
17	31229405	T	G	T31229405G	NF1	NM_000267.3(NF1):c.2790T>G:p.Tyr930Ter	coding	Pathogenic
17	31229425	T	A	T31229425A	NF1	NM_001042492.3(NF1):c.2810T>A:p.Leu937Ter	coding	Pathogenic
17	31229442	A	T	A31229442T	NF1	NM_000267.3(NF1):c.2827A>T:p.Lys943Ter	coding	Pathogenic
17	31229457	C	T	C31229457T	NF1	NM_000267.3(NF1):c.2842C>T:p.Gln948Ter	coding	Pathogenic
17	31229463	C	T	C31229463T	NF1	NM_000267.3(NF1):c.2848C>T:p.Gln950Ter	coding	Pathogenic
17	31229465	G	A	G31229465A	NF1	NM_000267.3(NF1):c.2850G>A:p.Gln950=	coding	Pathogenic
17	31229466	G	A	G31229466A	NF1	NM_000267.3(NF1):c.2850+1G>A	coding	Pathogenic
17	31229466	G	T	G31229466T	NF1	NM_000267.3(NF1):c.2850+1G>T	coding	Pathogenic/Likely_pathogenic
17	31229819	T	C	T31229819C	NF1	NM_000267.3(NF1):c.2851-16T>C	noncoding	Benign
17	31229834	G	T	G31229834T	NF1	NM_001042492.3(NF1):c.2851-1G>T	noncoding	Pathogenic
17	31229871	C	T	C31229871T	NF1	NM_000267.3(NF1):c.2887C>T:p.Gln963Ter	coding	Pathogenic
17	31229937	C	T	C31229937T	NF1	NM_000267.3(NF1):c.2953C>T:p.Gln985Ter	coding	Pathogenic
17	31229969	G	C	G31229969C	NF1	NM_001042492.3(NF1):c.2985G>C:p.Leu995=	coding	Benign/Likely_benign
17	31229974	G	A	G31229974A	NF1	NM_000267.3(NF1):c.2990G>A:p.Arg997Lys	coding	Pathogenic/Likely_pathogenic
17	31229975	G	A	G31229975A	NF1	NM_000267.3(NF1):c.2990+1G>A	coding	Pathogenic
17	31229975	G	T	G31229975T	NF1	NM_000267.3(NF1):c.2990+1G>T	coding	Pathogenic
17	31230258	A	T	A31230258T	NF1	NM_001042492.3(NF1):c.2991-2A>T	noncoding	Pathogenic
17	31230259	G	A	G31230259A	NF1	NM_000267.3(NF1):c.2991-1G>A	noncoding	Pathogenic
17	31230259	G	C	G31230259C	NF1	NM_000267.3(NF1):c.2991-1G>C	noncoding	Pathogenic
17	31230259	G	T	G31230259T	NF1	NM_001042492.3(NF1):c.2991-1G>T	noncoding	Pathogenic
17	31230303	A	T	A31230303T	NF1	NM_001042492.3(NF1):c.3034A>T:p.Lys1012Ter	coding	Pathogenic
17	31230309	A	T	A31230309T	NF1	NM_000267.3(NF1):c.3040A>T:p.Lys1014Ter	coding	Pathogenic
17	31230315	T	C	T31230315C	NF1	NM_000267.3(NF1):c.3046T>C:p.Cys1016Arg	coding	Pathogenic
17	31230317	T	A	T31230317A	NF1	NM_000267.3(NF1):c.3048T>A:p.Cys1016Ter	coding	Pathogenic
17	31230318	C	T	C31230318T	NF1	NM_001042492.3(NF1):c.3049C>T:p.Gln1017Ter	coding	Pathogenic
17	31230322	T	A	T31230322A	NF1	NM_000267.3(NF1):c.3053T>A:p.Leu1018Ter	coding	Pathogenic
17	31230327	G	T	G31230327T	NF1	NM_001042492.3(NF1):c.3058G>T:p.Glu1020Ter	coding	Pathogenic
17	31230345	A	T	A31230345T	NF1	NM_000267.3(NF1):c.3076A>T:p.Arg1026Ter	coding	Pathogenic
17	31230358	C	G	C31230358G	NF1	NM_000267.3(NF1):c.3089C>G:p.Ser1030Ter	coding	Pathogenic
17	31230365	C	A	C31230365A	NF1	NM_001042492.3(NF1):c.3096C>A:p.Cys1032Ter	coding	Pathogenic
17	31230366	C	T	C31230366T	NF1	NM_000267.3(NF1):c.3097C>T:p.Gln1033Ter	coding	Pathogenic
17	31230375	A	T	A31230375T	NF1	NM_000267.3(NF1):c.3106A>T:p.Lys1036Ter	coding	Pathogenic
17	31230383	G	A	G31230383A	NF1	NM_000267.3(NF1):c.3113+1G>A	coding	Pathogenic
17	31230383	G	C	G31230383C	NF1	NM_001042492.3(NF1):c.3113+1G>C	coding	Pathogenic
17	31230383	G	T	G31230383T	NF1	NM_000267.3(NF1):c.3113+1G>T	coding	Pathogenic
17	31230384	T	C	T31230384C	NF1	NM_000267.3(NF1):c.3113+2T>C	noncoding	Pathogenic
17	31230384	T	G	T31230384G	NF1	NM_000267.3(NF1):c.3113+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31230387	G	A	G31230387A	NF1	NM_000267.3(NF1):c.3113+5G>A	noncoding	Pathogenic
17	31230834	T	G	T31230834G	NF1	NM_001042492.3(NF1):c.3114-8T>G	noncoding	Pathogenic
17	31230839	T	G	T31230839G	NF1	NM_001042492.3(NF1):c.3114-3T>G	noncoding	Pathogenic
17	31230872	G	A	G31230872A	NF1	NM_000267.3(NF1):c.3144G>A:p.Trp1048Ter	coding	Pathogenic
17	31230886	C	G	C31230886G	NF1	NM_000267.3(NF1):c.3158C>G:p.Ser1053Ter	coding	Pathogenic
17	31230917	T	A	T31230917A	NF1	NM_000267.3(NF1):c.3189T>A:p.Cys1063Ter	coding	Pathogenic
17	31230926	G	A	G31230926A	NF1	NM_000267.3(NF1):c.3197+1G>A	coding	Pathogenic/Likely_pathogenic
17	31231064	T	C	T31231064C	NF1	NM_000267.3(NF1):c.3197+139T>C	noncoding	Benign
17	31231759	G	A	G31231759A	NF1	NM_001042492.3(NF1):c.3198-314G>A	noncoding	Pathogenic
17	31232071	A	G	A31232071G	NF1	NM_000267.3(NF1):c.3198-2A>G	noncoding	Pathogenic
17	31232083	C	T	C31232083T	NF1	NM_000267.3(NF1):c.3208C>T:p.Gln1070Ter	coding	Pathogenic
17	31232095	G	T	G31232095T	NF1	NM_001042492.3(NF1):c.3220G>T:p.Glu1074Ter	coding	Pathogenic
17	31232108	C	G	C31232108G	NF1	NM_001042492.3(NF1):c.3233C>G:p.Ser1078Ter	coding	Pathogenic
17	31232145	A	C	A31232145C	NF1	NM_001042492.3(NF1):c.3270A>C:p.Gly1090=	coding	Benign/Likely_benign
17	31232152	G	A	G31232152A	NF1	NM_000267.3(NF1):c.3277G>A:p.Val1093Met	coding	Pathogenic
17	31232174	C	A	C31232174A	NF1	NM_001042492.3(NF1):c.3299C>A:p.Ser1100Ter	coding	Pathogenic
17	31232180	T	G	T31232180G	NF1	NM_001042492.3(NF1):c.3305T>G:p.Leu1102Ter	coding	Pathogenic
17	31232570	G	C	G31232570C	NF1	NM_000267.3(NF1):c.3315-130G>C	noncoding	Benign
17	31232692	T	G	T31232692G	NF1	NM_001042492.3(NF1):c.3315-8T>G	noncoding	Pathogenic
17	31232697	C	G	C31232697G	NF1	NM_001042492.3(NF1):c.3315-3C>G	noncoding	Pathogenic
17	31232698	A	G	A31232698G	NF1	NM_000267.3(NF1):c.3315-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31232699	G	A	G31232699A	NF1	NM_000267.3(NF1):c.3315-1G>A	noncoding	Pathogenic
17	31232699	G	C	G31232699C	NF1	NM_000267.3(NF1):c.3315-1G>C	noncoding	Pathogenic
17	31232746	G	T	G31232746T	NF1	NM_000267.3(NF1):c.3361G>T:p.Glu1121Ter	coding	Pathogenic
17	31232752	G	T	G31232752T	NF1	NM_000267.3(NF1):c.3367G>T:p.Glu1123Ter	coding	Pathogenic
17	31232761	C	T	C31232761T	NF1	NM_000267.3(NF1):c.3376C>T:p.Gln1126Ter	coding	Pathogenic
17	31232830	A	G	A31232830G	NF1	NM_000267.3(NF1):c.3445A>G:p.Met1149Val	coding	Pathogenic/Likely_pathogenic
17	31232832	G	A	G31232832A	NF1	NM_000267.3(NF1):c.3447G>A:p.Met1149Ile	coding	Pathogenic/Likely_pathogenic
17	31232832	G	C	G31232832C	NF1	NM_000267.3(NF1):c.3447G>C:p.Met1149Ile	coding	Pathogenic
17	31232832	G	T	G31232832T	NF1	NM_000267.3(NF1):c.3447G>T:p.Met1149Ile	coding	Pathogenic/Likely_pathogenic
17	31232833	T	C	T31232833C	NF1	NM_001042492.3(NF1):c.3448T>C:p.Ser1150Pro	coding	Pathogenic
17	31232834	C	G	C31232834G	NF1	NM_000267.3(NF1):c.3449C>G:p.Ser1150Ter	coding	Pathogenic
17	31232853	C	T	C31232853T	NF1	NM_000267.3(NF1):c.3468C>T:p.Asn1156=	coding	Benign/Likely_benign
17	31232879	T	A	T31232879A	NF1	NM_000267.3(NF1):c.3494T>A:p.Ile1165Lys	coding	Pathogenic
17	31232882	G	C	G31232882C	NF1	NM_001042492.3(NF1):c.3496+1G>C	coding	Pathogenic
17	31232900	T	C	T31232900C	NF1	NM_000267.3(NF1):c.3496+19T>C	noncoding	Benign/Likely_benign
17	31232914	C	A	C31232914A	NF1	NM_000267.3(NF1):c.3496+33C>A	noncoding	Benign
17	31233005	T	G	T31233005G	NF1	NM_000267.3(NF1):c.3500T>G:p.Leu1167Ter	coding	Pathogenic
17	31233068	A	C	A31233068C	NF1	NM_000267.3(NF1):c.3563A>C:p.Gln1188Pro	coding	Pathogenic
17	31233070	C	T	C31233070T	NF1	NM_000267.3(NF1):c.3565C>T:p.Gln1189Ter	coding	Pathogenic
17	31233084	T	G	T31233084G	NF1	NM_001042492.3(NF1):c.3579T>G:p.Phe1193Leu	coding	Pathogenic
17	31233115	C	G	C31233115G	NF1	NM_000267.3(NF1):c.3610C>G:p.Arg1204Gly	coding	Pathogenic
17	31233115	C	T	C31233115T	NF1	NM_000267.3(NF1):c.3610C>T:p.Arg1204Trp	coding	Pathogenic/Likely_pathogenic
17	31233128	T	A	T31233128A	NF1	NM_000267.3(NF1):c.3623T>A:p.Leu1208Ter	coding	Pathogenic
17	31233149	T	G	T31233149G	NF1	NM_000267.3(NF1):c.3644T>G:p.Met1215Arg	coding	Pathogenic
17	31233167	T	G	T31233167G	NF1	NM_001042492.3(NF1):c.3662T>G:p.Leu1221Arg	coding	Pathogenic
17	31233191	A	G	A31233191G	NF1	NM_000267.3(NF1):c.3686A>G:p.Asn1229Ser	coding	Benign/Likely_benign
17	31233208	C	T	C31233208T	NF1	NM_000267.3(NF1):c.3703C>T:p.Gln1235Ter	coding	Pathogenic
17	31233212	G	A	G31233212A	NF1	NM_000267.3(NF1):c.3707G>A:p.Trp1236Ter	coding	Pathogenic
17	31233213	G	A	G31233213A	NF1	NM_001042492.3(NF1):c.3708G>A:p.Trp1236Ter	coding	Pathogenic
17	31235609	A	G	A31235609G	NF1	NM_001042492.3(NF1):c.3709-2A>G	noncoding	Pathogenic
17	31235609	A	T	A31235609T	NF1	NM_000267.3(NF1):c.3709-2A>T	noncoding	Pathogenic
17	31235610	G	A	G31235610A	NF1	NM_000267.3(NF1):c.3709-1G>A	noncoding	Pathogenic
17	31235614	G	T	G31235614T	NF1	NM_000267.3(NF1):c.3712G>T:p.Glu1238Ter	coding	Pathogenic
17	31235623	C	T	C31235623T	NF1	NM_000267.3(NF1):c.3721C>T:p.Arg1241Ter	coding	Pathogenic
17	31235657	T	A	T31235657A	NF1	NM_001042492.3(NF1):c.3755T>A:p.Leu1252Ter	coding	Pathogenic
17	31235665	C	T	C31235665T	NF1	NM_000267.3(NF1):c.3763C>T:p.Gln1255Ter	coding	Pathogenic
17	31235675	G	A	G31235675A	NF1	NM_000267.3(NF1):c.3773G>A:p.Trp1258Ter	coding	Pathogenic
17	31235692	G	A	G31235692A	NF1	NM_000267.3(NF1):c.3790G>A:p.Glu1264Lys	coding	Pathogenic/Likely_pathogenic
17	31235692	G	T	G31235692T	NF1	NM_000267.3(NF1):c.3790G>T:p.Glu1264Ter	coding	Pathogenic
17	31235716	C	T	C31235716T	NF1	NM_001042492.3(NF1):c.3814C>T:p.Gln1272Ter	coding	Pathogenic
17	31235728	C	G	C31235728G	NF1	NM_000267.3(NF1):c.3826C>G:p.Arg1276Gly	coding	Pathogenic/Likely_pathogenic
17	31235728	C	T	C31235728T	NF1	NM_000267.3(NF1):c.3826C>T:p.Arg1276Ter	coding	Pathogenic
17	31235729	G	A	G31235729A	NF1	NM_001042492.3(NF1):c.3827G>A:p.Arg1276Gln	coding	Pathogenic
17	31235729	G	C	G31235729C	NF1	NM_000267.3(NF1):c.3827G>C:p.Arg1276Pro	coding	Pathogenic
17	31235729	G	T	G31235729T	NF1	NM_001042492.3(NF1):c.3827G>T:p.Arg1276Leu	coding	Pathogenic
17	31235736	C	G	C31235736G	NF1	NM_000267.3(NF1):c.3834C>G:p.Asn1278Lys	coding	Pathogenic
17	31235773	G	A	G31235773A	NF1	NM_000267.3(NF1):c.3870+1G>A	coding	Pathogenic/Likely_pathogenic
17	31235773	G	C	G31235773C	NF1	NM_001042492.3(NF1):c.3870+1G>C	coding	Pathogenic
17	31235773	G	T	G31235773T	NF1	NM_000267.3(NF1):c.3870+1G>T	coding	Pathogenic
17	31235905	T	A	T31235905A	NF1	NM_001042492.3(NF1):c.3871-13T>A	noncoding	Pathogenic
17	31235916	A	G	A31235916G	NF1	NM_000267.3(NF1):c.3871-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31235939	C	T	C31235939T	NF1	NM_001042492.3(NF1):c.3892C>T:p.Gln1298Ter	coding	Pathogenic/Likely_pathogenic
17	31235958	T	A	T31235958A	NF1	NM_000267.3(NF1):c.3911T>A:p.Leu1304Ter	coding	Pathogenic
17	31235963	C	T	C31235963T	NF1	NM_000267.3(NF1):c.3916C>T:p.Arg1306Ter	coding	Pathogenic
17	31235988	G	A	G31235988A	NF1	NM_000267.3(NF1):c.3941G>A:p.Trp1314Ter	coding	Pathogenic
17	31235989	G	A	G31235989A	NF1	NM_001042492.3(NF1):c.3942G>A:p.Trp1314Ter	coding	Pathogenic
17	31235990	C	T	C31235990T	NF1	NM_001042492.3(NF1):c.3943C>T:p.Gln1315Ter	coding	Pathogenic
17	31236021	G	C	G31236021C	NF1	NM_000267.3(NF1):c.3974G>C:p.Arg1325Thr	coding	Pathogenic/Likely_pathogenic
17	31236022	G	A	G31236022A	NF1	NM_000267.3(NF1):c.3974+1G>A	coding	Pathogenic
17	31236022	G	C	G31236022C	NF1	NM_000267.3(NF1):c.3974+1G>C	coding	Pathogenic
17	31236030	T	A	T31236030A	NF1	NM_000267.3(NF1):c.3974+9T>A	noncoding	Benign/Likely_benign
17	31236044	A	T	A31236044T	NF1	NM_001042492.3(NF1):c.3974+23A>T	noncoding	Benign
17	31236059	T	G	T31236059G	NF1	NM_000267.3(NF1):c.3974+38T>G	noncoding	Benign
17	31248972	A	G	A31248972G	NF1	NM_001042492.3(NF1):c.3975-12A>G	noncoding	Benign/Likely_benign
17	31248973	T	G	T31248973G	NF1	NM_001042492.3(NF1):c.3975-11T>G	noncoding	Pathogenic
17	31248982	A	G	A31248982G	NF1	NM_000267.3(NF1):c.3975-2A>G	noncoding	Pathogenic
17	31248982	A	T	A31248982T	NF1	NM_001042492.3(NF1):c.3975-2A>T	noncoding	Pathogenic
17	31248986	T	G	T31248986G	NF1	NM_001042492.3(NF1):c.3977T>G:p.Leu1326Ter	coding	Pathogenic
17	31248995	C	A	C31248995A	NF1	NM_000267.3(NF1):c.3986C>A:p.Ser1329Ter	coding	Pathogenic
17	31249009	G	T	G31249009T	NF1	NM_000267.3(NF1):c.4000G>T:p.Glu1334Ter	coding	Pathogenic
17	31249025	T	G	T31249025G	NF1	NM_001042492.3(NF1):c.4016T>G:p.Leu1339Arg	coding	Pathogenic
17	31249030	C	T	C31249030T	NF1	NM_000267.3(NF1):c.4021C>T:p.Gln1341Ter	coding	Pathogenic
17	31249039	G	T	G31249039T	NF1	NM_000267.3(NF1):c.4030G>T:p.Glu1344Ter	coding	Pathogenic
17	31249073	C	G	C31249073G	NF1	NM_000267.3(NF1):c.4064C>G:p.Ser1355Ter	coding	Pathogenic
17	31249087	C	T	C31249087T	NF1	NM_000267.3(NF1):c.4078C>T:p.Gln1360Ter	coding	Pathogenic
17	31249093	C	T	C31249093T	NF1	NM_000267.3(NF1):c.4084C>T:p.Arg1362Ter	coding	Pathogenic
17	31249116	C	G	C31249116G	NF1	NM_001042492.3(NF1):c.4107C>G:p.Tyr1369Ter	coding	Pathogenic
17	31249117	C	T	C31249117T	NF1	NM_001042492.3(NF1):c.4108C>T:p.Gln1370Ter	coding	Pathogenic
17	31249120	G	A	G31249120A	NF1	NM_000267.3(NF1):c.4110+1G>A	coding	Pathogenic
17	31249120	G	T	G31249120T	NF1	NM_000267.3(NF1):c.4110+1G>T	coding	Pathogenic
17	31250064	A	G	A31250064G	NF1	NM_001042492.3(NF1):c.4110+945A>G	noncoding	Pathogenic
17	31250230	G	A	G31250230A	NF1	NM_000267.3(NF1):c.4110+1111G>A	noncoding	Benign
17	31251233	C	T	C31251233T	NF1	NM_000267.3(NF1):c.4110+2114C>T	noncoding	Benign
17	31258342	A	G	A31258342G	NF1	NM_000267.3(NF1):c.4111-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31258353	C	T	C31258353T	NF1	NM_000267.3(NF1):c.4120C>T:p.Gln1374Ter	coding	Pathogenic/Likely_pathogenic
17	31258365	C	T	C31258365T	NF1	NM_000267.3(NF1):c.4132C>T:p.Gln1378Ter	coding	Pathogenic
17	31258386	G	T	G31258386T	NF1	NM_001042492.3(NF1):c.4216G>T:p.Gly1406Ter	coding	Pathogenic
17	31258401	C	G	C31258401G	NF1	NM_000267.3(NF1):c.4168C>G:p.Leu1390Val	coding	Pathogenic/Likely_pathogenic
17	31258401	C	T	C31258401T	NF1	NM_000267.3(NF1):c.4168C>T:p.Leu1390Phe	coding	Pathogenic/Likely_pathogenic
17	31258404	A	G	A31258404G	NF1	NM_000267.3(NF1):c.4171A>G:p.Arg1391Gly	coding	Pathogenic
17	31258415	T	G	T31258415G	NF1	NM_001042492.3(NF1):c.4245T>G:p.Asn1415Lys	coding	Pathogenic
17	31258439	A	G	A31258439G	NF1	NM_001042492.3(NF1):c.4269A>G:p.Glu1423=	coding	Benign/Likely_benign
17	31258450	T	G	T31258450G	NF1	NM_001042492.3(NF1):c.4280T>G:p.Leu1427Ter	coding	Pathogenic
17	31258476	G	T	G31258476T	NF1	NM_000267.3(NF1):c.4243G>T:p.Glu1415Ter	coding	Pathogenic
17	31258486	T	A	T31258486A	NF1	NM_000267.3(NF1):c.4253T>A:p.Leu1418Ter	coding	Pathogenic/Likely_pathogenic
17	31258488	A	G	A31258488G	NF1	NM_000267.3(NF1):c.4255A>G:p.Lys1419Glu	coding	Pathogenic
17	31258500	A	C	A31258500C	NF1	NM_000267.3(NF1):c.4267A>C:p.Lys1423Gln	coding	Pathogenic/Likely_pathogenic
17	31258500	A	G	A31258500G	NF1	NM_001042492.3(NF1):c.4330A>G:p.Lys1444Glu	coding	Pathogenic
17	31258500	A	T	A31258500T	NF1	NM_001042492.3(NF1):c.4330A>T:p.Lys1444Ter	coding	Pathogenic
17	31258501	A	G	A31258501G	NF1	NM_000267.3(NF1):c.4268A>G:p.Lys1423Arg	coding	Pathogenic
17	31258502	G	C	G31258502C	NF1	NM_000267.3(NF1):c.4269G>C:p.Lys1423Asn	coding	Pathogenic/Likely_pathogenic
17	31258503	G	A	G31258503A	NF1	NM_000267.3(NF1):c.4269+1G>A	coding	Pathogenic
17	31258503	G	T	G31258503T	NF1	NM_000267.3(NF1):c.4269+1G>T	coding	Pathogenic
17	31258504	T	C	T31258504C	NF1	NM_000267.3(NF1):c.4269+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	31259030	A	G	A31259030G	NF1	NM_000267.3(NF1):c.4270-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31259031	G	C	G31259031C	NF1	NM_001042492.3(NF1):c.4333-1G>C	noncoding	Pathogenic
17	31259038	C	G	C31259038G	NF1	NM_000267.3(NF1):c.4276C>G:p.Gln1426Glu	coding	Pathogenic
17	31259039	A	C	A31259039C	NF1	NM_000267.3(NF1):c.4277A>C:p.Gln1426Pro	coding	Pathogenic/Likely_pathogenic
17	31259039	A	G	A31259039G	NF1	NM_000267.3(NF1):c.4277A>G:p.Gln1426Arg	coding	Pathogenic
17	31259068	A	G	A31259068G	NF1	NM_000267.3(NF1):c.4306A>G:p.Lys1436Glu	coding	Pathogenic
17	31259071	G	T	G31259071T	NF1	NM_001042492.3(NF1):c.4372G>T:p.Glu1458Ter	coding	Pathogenic
17	31259074	G	T	G31259074T	NF1	NM_000267.3(NF1):c.4312G>T:p.Glu1438Ter	coding	Pathogenic
17	31259130	G	A	G31259130A	NF1	NM_000267.3(NF1):c.4367+1G>A	coding	Pathogenic
17	31259130	G	C	G31259130C	NF1	NM_000267.3(NF1):c.4367+1G>C	coding	Pathogenic/Likely_pathogenic
17	31259131	T	G	T31259131G	NF1	NM_000267.3(NF1):c.4367+2T>G	noncoding	Pathogenic
17	31260323	G	C	G31260323C	NF1	NM_000267.3(NF1):c.4368-46G>C	noncoding	Benign
17	31260360	T	G	T31260360G	NF1	NM_001042492.3(NF1):c.4431-9T>G	noncoding	Pathogenic
17	31260368	G	A	G31260368A	NF1	NM_001042492.3(NF1):c.4431-1G>A	noncoding	Pathogenic
17	31260368	G	T	G31260368T	NF1	NM_001042492.3(NF1):c.4431-1G>T	noncoding	Pathogenic
17	31260403	A	G	A31260403G	NF1	NM_000267.3(NF1):c.4402A>G:p.Ser1468Gly	coding	Pathogenic
17	31260458	T	G	T31260458G	NF1	NM_000267.3(NF1):c.4457T>G:p.Leu1486Ter	coding	Pathogenic
17	31260474	G	A	G31260474A	NF1	NM_001042492.3(NF1):c.4536G>A:p.Trp1512Ter	coding	Pathogenic
17	31260481	C	T	C31260481T	NF1	NM_000267.3(NF1):c.4480C>T:p.Gln1494Ter	coding	Pathogenic
17	31260484	G	T	G31260484T	NF1	NM_000267.3(NF1):c.4483G>T:p.Glu1495Ter	coding	Pathogenic
17	31260496	C	T	C31260496T	NF1	NM_000267.3(NF1):c.4495C>T:p.Gln1499Ter	coding	Pathogenic
17	31260516	G	A	G31260516A	NF1	NM_000267.3(NF1):c.4514+1G>A	coding	Pathogenic
17	31260516	G	T	G31260516T	NF1	NM_000267.3(NF1):c.4514+1G>T	coding	Pathogenic
17	31260517	T	G	T31260517G	NF1	NM_001042492.3(NF1):c.4577+2T>G	noncoding	Pathogenic
17	31260527	C	T	C31260527T	NF1	NM_001042492.3(NF1):c.4577+12C>T	noncoding	Benign/Likely_benign
17	31261672	A	G	A31261672G	NF1	NM_000267.3(NF1):c.4515-39A>G	noncoding	Benign
17	31261690	T	C	T31261690C	NF1	NM_001042492.3(NF1):c.4578-21T>C	noncoding	Pathogenic
17	31261708	T	G	T31261708G	NF1	NM_001042492.3(NF1):c.4578-3T>G	noncoding	Pathogenic
17	31261709	A	C	A31261709C	NF1	NM_001042492.3(NF1):c.4578-2A>C	noncoding	Pathogenic
17	31261709	A	G	A31261709G	NF1	NM_000267.3(NF1):c.4515-2A>G	noncoding	Pathogenic
17	31261710	G	A	G31261710A	NF1	NM_001042492.3(NF1):c.4578-1G>A	noncoding	Pathogenic
17	31261719	A	G	A31261719G	NF1	NM_000267.3(NF1):c.4523A>G:p.Lys1508Arg	coding	Pathogenic
17	31261730	A	T	A31261730T	NF1	NM_000267.3(NF1):c.4534A>T:p.Arg1512Ter	coding	Pathogenic
17	31261733	C	T	C31261733T	NF1	NM_000267.3(NF1):c.4537C>T:p.Arg1513Ter	coding	Pathogenic/Likely_pathogenic
17	31261768	C	A	C31261768A	NF1	NM_000267.3(NF1):c.4572C>A:p.Tyr1524Ter	coding	Pathogenic
17	31261768	C	G	C31261768G	NF1	NM_000267.3(NF1):c.4572C>G:p.Tyr1524Ter	coding	Pathogenic
17	31261810	G	A	G31261810A	NF1	NM_000267.3(NF1):c.4614G>A:p.Trp1538Ter	coding	Pathogenic
17	31261833	C	A	C31261833A	NF1	NM_001042492.3(NF1):c.4700C>A:p.Ser1567Ter	coding	Pathogenic
17	31261833	C	G	C31261833G	NF1	NM_001042492.3(NF1):c.4700C>G:p.Ser1567Ter	coding	Pathogenic
17	31261844	G	T	G31261844T	NF1	NM_000267.3(NF1):c.4648G>T:p.Glu1550Ter	coding	Pathogenic
17	31261858	G	A	G31261858A	NF1	NM_000267.3(NF1):c.4661+1G>A	coding	Pathogenic/Likely_pathogenic
17	31261858	G	C	G31261858C	NF1	NM_000267.3(NF1):c.4661+1G>C	coding	Pathogenic
17	31265228	G	A	G31265228A	NF1	NM_000267.3(NF1):c.4662-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31265233	C	T	C31265233T	NF1	NM_000267.3(NF1):c.4666C>T:p.Gln1556Ter	coding	Pathogenic
17	31265248	G	T	G31265248T	NF1	NM_001042492.3(NF1):c.4744G>T:p.Glu1582Ter	coding	Pathogenic
17	31265251	G	T	G31265251T	NF1	NM_001042492.3(NF1):c.4747G>T:p.Glu1583Ter	coding	Pathogenic
17	31265273	T	A	T31265273A	NF1	NM_001042492.3(NF1):c.4769T>A:p.Leu1590Ter	coding	Pathogenic
17	31265287	C	T	C31265287T	NF1	NM_000267.3(NF1):c.4720C>T:p.Gln1574Ter	coding	Pathogenic
17	31265302	A	T	A31265302T	NF1	NM_000267.3(NF1):c.4735A>T:p.Lys1579Ter	coding	Pathogenic
17	31265325	T	G	T31265325G	NF1	NM_001042492.3(NF1):c.4821T>G:p.Tyr1607Ter	coding	Pathogenic
17	31265328	T	A	T31265328A	NF1	NM_000267.3(NF1):c.4761T>A:p.Tyr1587Ter	coding	Pathogenic
17	31265340	G	A	G31265340A	NF1	NM_000267.3(NF1):c.4772+1G>A	coding	Pathogenic
17	31265341	T	A	T31265341A	NF1	NM_001042492.3(NF1):c.4835+2T>A	noncoding	Pathogenic
17	31265375	T	C	T31265375C	NF1	NM_000267.3(NF1):c.4772+36T>C	noncoding	Benign/Likely_benign
17	31265532	T	C	T31265532C	NF1	NM_000267.3(NF1):c.4772+193T>C	noncoding	Benign
17	31295222	T	G	T31295222G	OMG	NM_002544.5(OMG):c.1110A>C:p.Ser370=	coding	Benign
17	31304591	G	C	G31304591C	NF1	NM_006495.4(EVI2B):c.1019C>G:p.Pro340Arg	coding	Benign/Likely_benign
17	31304852	C	A	C31304852A	EVI2B	NM_006495.4(EVI2B):c.758G>T:p.Cys253Phe	coding	Benign/Likely_benign
17	31305453	C	T	C31305453T	EVI2B	NM_006495.4(EVI2B):c.157G>A:p.Gly53Arg	coding	Benign/Likely_benign
17	31318487	T	C	T31318487C	EVI2A	NM_014210.4(EVI2A):c.527A>G:p.Gln176Arg	coding	Benign/Likely_benign
17	31319014	G	A	G31319014A	NF1	NM_001042492.3(NF1):c.4836-6806G>A	coding	Benign
17	31325513	A	G	A31325513G	NF1	NM_000267.3(NF1):c.4773-307A>G	noncoding	Benign
17	31325818	A	C	A31325818C	NF1	NM_000267.3(NF1):c.4773-2A>C	noncoding	Pathogenic
17	31325819	G	A	G31325819A	NF1	NM_000267.3(NF1):c.4773-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31325819	G	C	G31325819C	NF1	NM_000267.3(NF1):c.4773-1G>C	noncoding	Pathogenic
17	31325835	A	G	A31325835G	NF1	NM_000267.3(NF1):c.4788A>G:p.Gln1596=	coding	Benign/Likely_benign
17	31325859	C	G	C31325859G	NF1	NM_000267.3(NF1):c.4812C>G:p.Tyr1604Ter	coding	Pathogenic
17	31325866	T	C	T31325866C	NF1	NM_001042492.3(NF1):c.4882T>C:p.Leu1628=	coding	Benign
17	31325867	T	G	T31325867G	NF1	NM_001042492.3(NF1):c.4883T>G:p.Leu1628Ter	coding	Pathogenic
17	31325876	T	G	T31325876G	NF1	NM_000267.3(NF1):c.4829T>G:p.Leu1610Ter	coding	Pathogenic
17	31325889	T	G	T31325889G	NF1	NM_000267.3(NF1):c.4842T>G:p.Tyr1614Ter	coding	Pathogenic
17	31325901	T	A	T31325901A	NF1	NM_000267.3(NF1):c.4854T>A:p.Tyr1618Ter	coding	Pathogenic
17	31325913	G	A	G31325913A	NF1	NM_001042492.3(NF1):c.4929G>A:p.Val1643=	coding	Benign
17	31325947	A	T	A31325947T	NF1	NM_001042492.3(NF1):c.4963A>T:p.Lys1655Ter	coding	Pathogenic
17	31325969	G	A	G31325969A	NF1	NM_000267.3(NF1):c.4922G>A:p.Trp1641Ter	coding	Pathogenic
17	31325997	C	A	C31325997A	NF1	NM_000267.3(NF1):c.4950C>A:p.Tyr1650Ter	coding	Pathogenic
17	31325997	C	G	C31325997G	NF1	NM_001042492.3(NF1):c.5013C>G:p.Tyr1671Ter	coding	Pathogenic
17	31326018	T	G	T31326018G	NF1	NM_001042492.3(NF1):c.5034T>G:p.Tyr1678Ter	coding	Pathogenic
17	31326019	A	G	A31326019G	NF1	NM_001042492.3(NF1):c.5035A>G:p.Ile1679Val	coding	Benign/Likely_benign
17	31326039	G	A	G31326039A	NF1	NM_000267.3(NF1):c.4992G>A:p.Trp1664Ter	coding	Pathogenic
17	31326046	G	T	G31326046T	NF1	NM_000267.3(NF1):c.4999G>T:p.Glu1667Ter	coding	Pathogenic
17	31326060	T	A	T31326060A	NF1	NM_001042492.3(NF1):c.5076T>A:p.Tyr1692Ter	coding	Pathogenic
17	31326142	G	T	G31326142T	NF1	NM_001042492.3(NF1):c.5158G>T:p.Glu1720Ter	coding	Pathogenic
17	31326176	T	A	T31326176A	NF1	NM_000267.3(NF1):c.5129T>A:p.Leu1710Ter	coding	Pathogenic
17	31326182	T	A	T31326182A	NF1	NM_001042492.3(NF1):c.5198T>A:p.Leu1733Ter	coding	Pathogenic
17	31326219	G	A	G31326219A	NF1	NM_001042492.3(NF1):c.5235G>A:p.Lys1745=	coding	Benign/Likely_benign
17	31326257	G	A	G31326257A	NF1	NM_000267.3(NF1):c.5205+5G>A	noncoding	Pathogenic
17	31326275	T	C	T31326275C	NF1	NM_000267.3(NF1):c.5205+23T>C	noncoding	Benign
17	31327480	C	A	C31327480A	NF1	NM_001042492.3(NF1):c.5269-19C>A	noncoding	Pathogenic
17	31327497	A	G	A31327497G	NF1	NM_000267.3(NF1):c.5206-2A>G	noncoding	Pathogenic
17	31327497	A	T	A31327497T	NF1	NM_001042492.3(NF1):c.5269-2A>T	noncoding	Pathogenic
17	31327498	G	A	G31327498A	NF1	NM_000267.3(NF1):c.5206-1G>A	noncoding	Pathogenic
17	31327517	C	T	C31327517T	NF1	NM_001042492.3(NF1):c.5287C>T:p.Gln1763Ter	coding	Pathogenic
17	31327527	C	G	C31327527G	NF1	NM_000267.3(NF1):c.5234C>G:p.Ser1745Ter	coding	Pathogenic
17	31327535	C	T	C31327535T	NF1	NM_001042492.3(NF1):c.5305C>T:p.Arg1769Ter	coding	Pathogenic
17	31327557	C	G	C31327557G	NF1	NM_001042492.3(NF1):c.5327C>G:p.Ser1776Ter	coding	Pathogenic
17	31327598	G	T	G31327598T	NF1	NM_000267.3(NF1):c.5305G>T:p.Glu1769Ter	coding	Pathogenic
17	31327606	C	A	C31327606A	NF1	NM_001042492.3(NF1):c.5376C>A:p.Cys1792Ter	coding	Pathogenic
17	31327622	C	T	C31327622T	NF1	NM_001042492.3(NF1):c.5392C>T:p.Gln1798Ter	coding	Pathogenic
17	31327673	C	T	C31327673T	NF1	NM_001042492.3(NF1):c.5443C>T:p.Gln1815Ter	coding	Pathogenic
17	31327676	G	T	G31327676T	NF1	NM_001042492.3(NF1):c.5446G>T:p.Glu1816Ter	coding	Pathogenic
17	31327718	C	A	C31327718A	NF1	NM_000267.3(NF1):c.5425C>A:p.Arg1809Ser	coding	Pathogenic
17	31327718	C	T	C31327718T	NF1	NM_000267.3(NF1):c.5425C>T:p.Arg1809Cys	coding	Pathogenic
17	31327719	G	C	G31327719C	NF1	NM_000267.3(NF1):c.5426G>C:p.Arg1809Pro	coding	Pathogenic
17	31327719	G	T	G31327719T	NF1	NM_000267.3(NF1):c.5426G>T:p.Arg1809Leu	coding	Pathogenic/Likely_pathogenic
17	31327722	G	A	G31327722A	NF1	NM_000267.3(NF1):c.5429G>A:p.Trp1810Ter	coding	Pathogenic
17	31327723	G	A	G31327723A	NF1	NM_001042492.3(NF1):c.5493G>A:p.Trp1831Ter	coding	Pathogenic
17	31327724	G	T	G31327724T	NF1	NM_001042492.3(NF1):c.5494G>T:p.Glu1832Ter	coding	Pathogenic
17	31327731	C	G	C31327731G	NF1	NM_000267.3(NF1):c.5438C>G:p.Ser1813Ter	coding	Pathogenic
17	31327733	C	T	C31327733T	NF1	NM_001042492.3(NF1):c.5503C>T:p.Gln1835Ter	coding	Pathogenic
17	31327751	C	T	C31327751T	NF1	NM_000267.3(NF1):c.5458C>T:p.Gln1820Ter	coding	Pathogenic
17	31327791	T	G	T31327791G	NF1	NM_000267.3(NF1):c.5498T>G:p.Leu1833Arg	coding	Pathogenic
17	31327836	T	G	T31327836G	NF1	NM_000267.3(NF1):c.5543T>G:p.Leu1848Ter	coding	Pathogenic
17	31327839	G	A	G31327839A	NF1	NM_000267.3(NF1):c.5546G>A:p.Arg1849Gln	coding	Pathogenic
17	31327840	G	A	G31327840A	NF1	NM_000267.3(NF1):c.5546+1G>A	coding	Pathogenic
17	31327841	T	G	T31327841G	NF1	NM_001042492.3(NF1):c.5609+2T>G	noncoding	Pathogenic
17	31327858	T	A	T31327858A	NF1	NM_001042492.3(NF1):c.5609+19T>A	noncoding	Benign
17	31327956	G	A	G31327956A	NF1	NM_000267.3(NF1):c.5546+117G>A	noncoding	Benign
17	31330295	G	C	G31330295C	NF1	NM_000267.3(NF1):c.5547-1G>C	noncoding	Pathogenic/Likely_pathogenic
17	31330325	T	G	T31330325G	NF1	NM_001042492.3(NF1):c.5639T>G:p.Leu1880Ter	coding	Pathogenic
17	31330336	T	C	T31330336C	NF1	NM_000267.3(NF1):c.5587T>C:p.Phe1863Leu	coding	Pathogenic
17	31330343	T	A	T31330343A	NF1	NM_000267.3(NF1):c.5594T>A:p.Leu1865Ter	coding	Pathogenic
17	31330357	C	T	C31330357T	NF1	NM_000267.3(NF1):c.5608C>T:p.Gln1870Ter	coding	Pathogenic
17	31330366	G	T	G31330366T	NF1	NM_000267.3(NF1):c.5617G>T:p.Glu1873Ter	coding	Pathogenic
17	31330373	C	A	C31330373A	NF1	NM_001042492.3(NF1):c.5687C>A:p.Ser1896Ter	coding	Pathogenic
17	31330373	C	G	C31330373G	NF1	NM_000267.3(NF1):c.5624C>G:p.Ser1875Ter	coding	Pathogenic
17	31330383	T	A	T31330383A	NF1	NM_001042492.3(NF1):c.5697T>A:p.Cys1899Ter	coding	Pathogenic
17	31330423	A	T	A31330423T	NF1	NM_001042492.3(NF1):c.5737A>T:p.Lys1913Ter	coding	Pathogenic
17	31330457	T	A	T31330457A	NF1	NM_000267.3(NF1):c.5708T>A:p.Leu1903Ter	coding	Pathogenic
17	31330459	G	T	G31330459T	NF1	NM_000267.3(NF1):c.5710G>T:p.Glu1904Ter	coding	Pathogenic
17	31330468	G	T	G31330468T	NF1	NM_000267.3(NF1):c.5719G>T:p.Glu1907Ter	coding	Pathogenic
17	31330471	G	T	G31330471T	NF1	NM_001042492.3(NF1):c.5785G>T:p.Glu1929Ter	coding	Pathogenic
17	31330499	G	A	G31330499A	NF1	NM_000267.3(NF1):c.5749+1G>A	coding	Pathogenic
17	31330500	T	C	T31330500C	NF1	NM_000267.3(NF1):c.5749+2T>C	noncoding	Pathogenic
17	31330502	A	T	A31330502T	NF1	NM_000267.3(NF1):c.5749+4A>T	noncoding	Pathogenic
17	31330503	G	A	G31330503A	NF1	NM_000267.3(NF1):c.5749+5G>A	noncoding	Pathogenic
17	31330506	A	G	A31330506G	NF1	NM_000267.3(NF1):c.5749+8A>G	noncoding	Benign/Likely_benign
17	31330830	A	G	A31330830G	NF1	NM_000267.3(NF1):c.5749+332A>G	noncoding	Pathogenic
17	31334322	G	T	G31334322T	NF1	NM_000267.3(NF1):c.5750-516G>T	noncoding	Benign
17	31334847	T	A	T31334847A	NF1	NM_000267.3(NF1):c.5759T>A:p.Leu1920Ter	coding	Pathogenic
17	31334860	T	A	T31334860A	NF1	NM_000267.3(NF1):c.5772T>A:p.Cys1924Ter	coding	Pathogenic
17	31334864	G	T	G31334864T	NF1	NM_000267.3(NF1):c.5776G>T:p.Glu1926Ter	coding	Pathogenic
17	31334867	T	G	T31334867G	NF1	NM_000267.3(NF1):c.5779T>G:p.Tyr1927Asp	coding	Pathogenic
17	31334879	T	C	T31334879C	NF1	NM_000267.3(NF1):c.5791T>C:p.Trp1931Arg	coding	Pathogenic/Likely_pathogenic
17	31334880	G	A	G31334880A	NF1	NM_000267.3(NF1):c.5792G>A:p.Trp1931Ter	coding	Pathogenic
17	31334881	G	A	G31334881A	NF1	NM_000267.3(NF1):c.5793G>A:p.Trp1931Ter	coding	Pathogenic
17	31334886	C	G	C31334886G	NF1	NM_001042492.3(NF1):c.5861C>G:p.Ser1954Ter	coding	Pathogenic
17	31334905	C	A	C31334905A	NF1	NM_000267.3(NF1):c.5817C>A:p.Cys1939Ter	coding	Pathogenic
17	31334908	G	A	G31334908A	NF1	NM_000267.3(NF1):c.5820G>A:p.Lys1940=	coding	Benign/Likely_benign
17	31334927	C	T	C31334927T	NF1	NM_000267.3(NF1):c.5839C>T:p.Arg1947Ter	coding	Pathogenic
17	31334933	A	T	A31334933T	NF1	NM_000267.3(NF1):c.5845A>T:p.Arg1949Ter	coding	Pathogenic
17	31334984	C	T	C31334984T	NF1	NM_000267.3(NF1):c.5896C>T:p.Gln1966Ter	coding	Pathogenic
17	31334992	C	G	C31334992G	NF1	NM_000267.3(NF1):c.5904C>G:p.Tyr1968Ter	coding	Pathogenic
17	31335016	G	A	G31335016A	NF1	NM_000267.3(NF1):c.5928G>A:p.Trp1976Ter	coding	Pathogenic/Likely_pathogenic
17	31335026	G	A	G31335026A	NF1	NM_000267.3(NF1):c.5938G>A:p.Gly1980Arg	coding	Pathogenic
17	31335029	C	T	C31335029T	NF1	NM_000267.3(NF1):c.5941C>T:p.Gln1981Ter	coding	Pathogenic
17	31335032	G	A	G31335032A	NF1	NM_000267.3(NF1):c.5943+1G>A	coding	Pathogenic
17	31336154	A	C	A31336154C	NF1	NM_000267.3(NF1):c.5944-179A>C	noncoding	Benign
17	31336328	A	G	A31336328G	NF1	NM_000267.3(NF1):c.5944-5A>G	noncoding	Pathogenic
17	31336331	A	G	A31336331G	NF1	NM_000267.3(NF1):c.5944-2A>G	noncoding	Pathogenic
17	31336332	G	C	G31336332C	NF1	NM_000267.3(NF1):c.5944-1G>C	noncoding	Pathogenic/Likely_pathogenic
17	31336359	A	G	A31336359G	NF1	NM_000267.3(NF1):c.5970A>G:p.Leu1990=	coding	Benign/Likely_benign
17	31336474	G	A	G31336474A	NF1	NM_000267.3(NF1):c.6084+1G>A	coding	Pathogenic
17	31336474	G	T	G31336474T	NF1	NM_001042492.3(NF1):c.6147+1G>T	coding	Pathogenic
17	31336475	T	C	T31336475C	NF1	NM_000267.3(NF1):c.6084+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	31336481	C	G	C31336481G	NF1	NM_001042492.3(NF1):c.6147+8C>G	noncoding	Benign/Likely_benign
17	31336619	T	G	T31336619G	NF1	NM_001042492.3(NF1):c.6148-16T>G	noncoding	Pathogenic
17	31336622	T	A	T31336622A	NF1	NM_001042492.3(NF1):c.6148-13T>A	noncoding	Pathogenic
17	31336632	C	A	C31336632A	NF1	NM_001042492.3(NF1):c.6148-3C>A	noncoding	Pathogenic
17	31336652	C	A	C31336652A	NF1	NM_001042492.3(NF1):c.6165C>A:p.Cys2055Ter	coding	Pathogenic
17	31336653	A	T	A31336653T	NF1	NM_000267.3(NF1):c.6103A>T:p.Lys2035Ter	coding	Pathogenic
17	31336658	A	T	A31336658T	NF1	NM_001042492.3(NF1):c.6171A>T:p.Ile2057=	coding	Benign/Likely_benign
17	31336698	C	T	C31336698T	NF1	NM_000267.3(NF1):c.6148C>T:p.Gln2050Ter	coding	Pathogenic
17	31336712	G	A	G31336712A	NF1	NM_000267.3(NF1):c.6162G>A:p.Trp2054Ter	coding	Pathogenic
17	31336750	T	C	T31336750C	NF1	NM_000267.3(NF1):c.6200T>C:p.Leu2067Pro	coding	Pathogenic
17	31336880	C	T	C31336880T	NF1	NM_001042492.3(NF1):c.6393C>T:p.His2131=	coding	Benign
17	31336889	T	A	T31336889A	NF1	NM_000267.3(NF1):c.6339T>A:p.Cys2113Ter	coding	Pathogenic
17	31336897	C	A	C31336897A	NF1	NM_001042492.3(NF1):c.6410C>A:p.Ser2137Ter	coding	Pathogenic
17	31336899	C	T	C31336899T	NF1	NM_001042492.3(NF1):c.6412C>T:p.Gln2138Ter	coding	Pathogenic
17	31336916	T	G	T31336916G	NF1	NM_000267.3(NF1):c.6364+2T>G	noncoding	Pathogenic
17	31337365	C	G	C31337365G	NF1	NM_001042492.3(NF1):c.6428-3C>G	noncoding	Pathogenic/Likely_pathogenic
17	31337366	A	C	A31337366C	NF1	NM_000267.3(NF1):c.6365-2A>C	noncoding	Pathogenic
17	31337366	A	G	A31337366G	NF1	NM_000267.3(NF1):c.6365-2A>G	noncoding	Pathogenic
17	31337367	G	A	G31337367A	NF1	NM_001042492.3(NF1):c.6428-1G>A	noncoding	Pathogenic
17	31337367	G	T	G31337367T	NF1	NM_001042492.3(NF1):c.6428-1G>T	noncoding	Pathogenic
17	31337370	G	T	G31337370T	NF1	NM_000267.3(NF1):c.6367G>T:p.Glu2123Ter	coding	Pathogenic
17	31337376	A	T	A31337376T	NF1	NM_000267.3(NF1):c.6373A>T:p.Lys2125Ter	coding	Pathogenic
17	31337379	C	T	C31337379T	NF1	NM_000267.3(NF1):c.6376C>T:p.Gln2126Ter	coding	Pathogenic
17	31337426	C	A	C31337426A	NF1	NM_001042492.3(NF1):c.6486C>A:p.Tyr2162Ter	coding	Pathogenic
17	31337426	C	G	C31337426G	NF1	NM_001042492.3(NF1):c.6486C>G:p.Tyr2162Ter	coding	Pathogenic
17	31337428	T	A	T31337428A	NF1	NM_001042492.3(NF1):c.6488T>A:p.Leu2163Ter	coding	Pathogenic
17	31337430	C	A	C31337430A	NF1	NM_000267.3(NF1):c.6427C>A:p.Leu2143Met	coding	Pathogenic
17	31337455	C	G	C31337455G	NF1	NM_001042492.3(NF1):c.6515C>G:p.Ser2172Ter	coding	Pathogenic
17	31337486	C	G	C31337486G	NF1	NM_001042492.3(NF1):c.6546C>G:p.Tyr2182Ter	coding	Pathogenic
17	31337497	C	G	C31337497G	NF1	NM_000267.3(NF1):c.6494C>G:p.Ser2165Ter	coding	Pathogenic
17	31337514	T	A	T31337514A	NF1	NM_000267.3(NF1):c.6511T>A:p.Tyr2171Asn	coding	Pathogenic
17	31337516	T	A	T31337516A	NF1	NM_001042492.3(NF1):c.6576T>A:p.Tyr2192Ter	coding	Pathogenic
17	31337517	G	T	G31337517T	NF1	NM_000267.3(NF1):c.6514G>T:p.Glu2172Ter	coding	Pathogenic
17	31337536	T	A	T31337536A	NF1	NM_001042492.3(NF1):c.6596T>A:p.Leu2199Ter	coding	Pathogenic
17	31337583	G	A	G31337583A	NF1	NM_000267.3(NF1):c.6579+1G>A	coding	Pathogenic/Likely_pathogenic
17	31337583	G	T	G31337583T	NF1	NM_000267.3(NF1):c.6579+1G>T	coding	Pathogenic/Likely_pathogenic
17	31337584	T	C	T31337584C	NF1	NM_001042492.3(NF1):c.6642+2T>C	noncoding	Pathogenic
17	31337627	T	A	T31337627A	NF1	NM_000267.3(NF1):c.6579+45T>A	noncoding	Benign
17	31337806	T	C	T31337806C	NF1	NM_001042492.3(NF1):c.6643-13T>C	noncoding	Benign/Likely_benign
17	31337824	C	A	C31337824A	NF1	NM_000267.3(NF1):c.6585C>A:p.Cys2195Ter	coding	Pathogenic
17	31337850	G	A	G31337850A	NF1	NM_000267.3(NF1):c.6611G>A:p.Trp2204Ter	coding	Pathogenic/Likely_pathogenic
17	31337851	G	A	G31337851A	NF1	NM_001042492.3(NF1):c.6675G>A:p.Trp2225Ter	coding	Pathogenic
17	31337863	G	A	G31337863A	NF1	NM_001042492.3(NF1):c.6687G>A:p.Trp2229Ter	coding	Pathogenic
17	31337876	C	T	C31337876T	NF1	NM_000267.3(NF1):c.6637C>T:p.Gln2213Ter	coding	Pathogenic
17	31337881	G	A	G31337881A	NF1	NM_000267.3(NF1):c.6641+1G>A	coding	Pathogenic
17	31337881	G	C	G31337881C	NF1	NM_001042492.3(NF1):c.6704+1G>C	coding	Pathogenic
17	31337881	G	T	G31337881T	NF1	NM_001042492.3(NF1):c.6704+1G>T	coding	Pathogenic
17	31337882	T	G	T31337882G	NF1	NM_000267.3(NF1):c.6641+2T>G	noncoding	Pathogenic
17	31338019	T	G	T31338019G	NF1	NM_001042492.3(NF1):c.6705-6T>G	noncoding	Pathogenic
17	31338020	T	G	T31338020G	NF1	NM_001042492.3(NF1):c.6705-5T>G	noncoding	Pathogenic
17	31338022	C	A	C31338022A	NF1	NM_000267.3(NF1):c.6642-3C>A	noncoding	Pathogenic/Likely_pathogenic
17	31338024	G	T	G31338024T	NF1	NM_001042492.3(NF1):c.6705-1G>T	noncoding	Pathogenic
17	31338035	C	T	C31338035T	NF1	NM_000267.3(NF1):c.6652C>T:p.Gln2218Ter	coding	Pathogenic
17	31338053	C	T	C31338053T	NF1	NM_000267.3(NF1):c.6670C>T:p.Gln2224Ter	coding	Pathogenic
17	31338092	C	T	C31338092T	NF1	NM_000267.3(NF1):c.6709C>T:p.Arg2237Ter	coding	Pathogenic
17	31338116	C	T	C31338116T	NF1	NM_000267.3(NF1):c.6733C>T:p.Gln2245Ter	coding	Pathogenic
17	31338140	G	A	G31338140A	NF1	NM_000267.3(NF1):c.6756+1G>A	coding	Pathogenic/Likely_pathogenic
17	31338141	T	A	T31338141A	NF1	NM_000267.3(NF1):c.6756+2T>A	noncoding	Pathogenic
17	31338141	T	G	T31338141G	NF1	NM_001042492.3(NF1):c.6819+2T>G	noncoding	Pathogenic
17	31338142	A	G	A31338142G	NF1	NM_000267.3(NF1):c.6756+3A>G	noncoding	Pathogenic
17	31338694	T	G	T31338694G	NF1	NM_001042492.3(NF1):c.6820-10T>G	noncoding	Pathogenic
17	31338695	T	G	T31338695G	NF1	NM_001042492.3(NF1):c.6820-9T>G	noncoding	Pathogenic
17	31338725	G	T	G31338725T	NF1	NM_001042492.3(NF1):c.6841G>T:p.Gly2281Ter	coding	Pathogenic
17	31338739	C	A	C31338739A	NF1	NM_000267.3(NF1):c.6792C>A:p.Tyr2264Ter	coding	Pathogenic
17	31338739	C	G	C31338739G	NF1	NM_000267.3(NF1):c.6792C>G:p.Tyr2264Ter	coding	Pathogenic
17	31338748	A	G	A31338748G	NF1	NM_000267.3(NF1):c.6801A>G:p.Gln2267=	coding	Pathogenic/Likely_pathogenic
17	31338786	T	G	T31338786G	NF1	NM_001042492.3(NF1):c.6902T>G:p.Leu2301Ter	coding	Pathogenic
17	31338788	C	T	C31338788T	NF1	NM_000267.3(NF1):c.6841C>T:p.Gln2281Ter	coding	Pathogenic
17	31338806	G	A	G31338806A	NF1	NM_000267.3(NF1):c.6858+1G>A	coding	Pathogenic
17	31338806	G	C	G31338806C	NF1	NM_001042492.3(NF1):c.6921+1G>C	coding	Pathogenic
17	31338806	G	T	G31338806T	NF1	NM_000267.3(NF1):c.6858+1G>T	coding	Pathogenic
17	31340504	G	C	G31340504C	NF1	NM_000267.3(NF1):c.6859-1G>C	noncoding	Pathogenic
17	31340533	G	A	G31340533A	NF1	NM_001042492.3(NF1):c.6950G>A:p.Trp2317Ter	coding	Pathogenic
17	31340553	C	T	C31340553T	NF1	NM_000267.3(NF1):c.6907C>T:p.Gln2303Ter	coding	Pathogenic
17	31340598	G	T	G31340598T	NF1	NM_000267.3(NF1):c.6952G>T:p.Glu2318Ter	coding	Pathogenic
17	31340601	C	T	C31340601T	NF1	NM_001042492.3(NF1):c.7018C>T:p.Gln2340Ter	coding	Pathogenic
17	31340617	T	G	T31340617G	NF1	NM_000267.3(NF1):c.6971T>G:p.Leu2324Ter	coding	Pathogenic
17	31340646	G	A	G31340646A	NF1	NM_000267.3(NF1):c.6999+1G>A	coding	Pathogenic
17	31340646	G	T	G31340646T	NF1	NM_001042492.3(NF1):c.7062+1G>T	coding	Pathogenic
17	31342999	T	G	T31342999G	NF1	NM_001042492.3(NF1):c.7063-10T>G	noncoding	Pathogenic
17	31343005	A	G	A31343005G	NF1	NM_001042492.3(NF1):c.7063-4A>G	noncoding	Pathogenic
17	31343006	T	G	T31343006G	NF1	NM_001042492.3(NF1):c.7063-3T>G	noncoding	Pathogenic
17	31343007	A	G	A31343007G	NF1	NM_000267.3(NF1):c.7000-2A>G	noncoding	Pathogenic
17	31343008	G	T	G31343008T	NF1	NM_000267.3(NF1):c.7000-1G>T	noncoding	Pathogenic
17	31343053	G	A	G31343053A	NF1	NM_000267.3(NF1):c.7044G>A:p.Trp2348Ter	coding	Pathogenic
17	31343059	C	A	C31343059A	NF1	NM_001042492.3(NF1):c.7113C>A:p.Cys2371Ter	coding	Pathogenic
17	31343060	A	T	A31343060T	NF1	NM_001042492.3(NF1):c.7114A>T:p.Lys2372Ter	coding	Pathogenic
17	31343063	C	T	C31343063T	NF1	NM_000267.3(NF1):c.7054C>T:p.Gln2352Ter	coding	Pathogenic
17	31343120	G	T	G31343120T	NF1	NM_001042492.3(NF1):c.7174G>T:p.Gly2392Ter	coding	Pathogenic
17	31343132	A	T	A31343132T	NF1	NM_001042492.3(NF1):c.7186A>T:p.Lys2396Ter	coding	Pathogenic
17	31343135	G	A	G31343135A	NF1	NM_000267.3(NF1):c.7126G>A:p.Gly2376Arg	coding	Pathogenic
17	31343136	G	A	G31343136A	NF1	NM_000267.3(NF1):c.7126+1G>A	coding	Pathogenic
17	31343136	G	C	G31343136C	NF1	NM_001042492.3(NF1):c.7189+1G>C	coding	Pathogenic
17	31343136	G	T	G31343136T	NF1	NM_001042492.3(NF1):c.7189+1G>T	coding	Pathogenic
17	31343138	A	C	A31343138C	NF1	NM_000267.3(NF1):c.7126+3A>C	noncoding	Pathogenic
17	31343172	C	G	C31343172G	NF1	NM_000267.3(NF1):c.7126+37C>G	noncoding	Benign
17	31348860	T	G	T31348860G	NF1	NM_000267.3(NF1):c.7127-260T>G	noncoding	Benign
17	31348953	T	A	T31348953A	NF1	NM_000267.3(NF1):c.7127-167T>A	noncoding	Benign
17	31349100	T	A	T31349100A	NF1	NM_001042492.3(NF1):c.7190-20T>A	noncoding	Pathogenic
17	31349108	T	A	T31349108A	NF1	NM_001042492.3(NF1):c.7190-12T>A	noncoding	Pathogenic
17	31349118	A	G	A31349118G	NF1	NM_000267.3(NF1):c.7127-2A>G	noncoding	Pathogenic
17	31349119	G	A	G31349119A	NF1	NM_001042492.3(NF1):c.7190-1G>A	noncoding	Pathogenic
17	31349124	C	G	C31349124G	NF1	NM_001042492.3(NF1):c.7194C>G:p.Tyr2398Ter	coding	Pathogenic
17	31349161	A	T	A31349161T	NF1	NM_001042492.3(NF1):c.7231A>T:p.Arg2411Ter	coding	Pathogenic
17	31349168	T	A	T31349168A	NF1	NM_000267.3(NF1):c.7175T>A:p.Leu2392Ter	coding	Pathogenic
17	31349208	T	A	T31349208A	NF1	NM_000267.3(NF1):c.7215T>A:p.Cys2405Ter	coding	Pathogenic
17	31349218	G	T	G31349218T	NF1	NM_000267.3(NF1):c.7225G>T:p.Glu2409Ter	coding	Pathogenic
17	31349244	C	G	C31349244G	NF1	NM_000267.3(NF1):c.7251C>G:p.Tyr2417Ter	coding	Pathogenic
17	31350166	C	T	C31350166T	NF1	NM_001042492.3(NF1):c.7322-17C>T	noncoding	Benign
17	31350169	C	T	C31350169T	NF1	NM_001042492.3(NF1):c.7322-14C>T	noncoding	Benign
17	31350209	C	T	C31350209T	NF1	NM_000267.3(NF1):c.7285C>T:p.Arg2429Ter	coding	Pathogenic
17	31350229	A	G	A31350229G	NF1	NM_001042492.3(NF1):c.7368A>G:p.Lys2456=	coding	Benign/Likely_benign
17	31350261	C	A	C31350261A	NF1	NM_001042492.3(NF1):c.7400C>A:p.Ser2467Ter	coding	Pathogenic
17	31350271	T	C	T31350271C	NF1	NM_000267.3(NF1):c.7347T>C:p.Asn2449=	coding	Benign/Likely_benign
17	31350289	T	A	T31350289A	NF1	NM_000267.3(NF1):c.7365T>A:p.Tyr2455Ter	coding	Pathogenic
17	31350316	T	A	T31350316A	NF1	NM_000267.3(NF1):c.7392T>A:p.Tyr2464Ter	coding	Pathogenic
17	31350339	A	G	A31350339G	NF1	NM_000267.3(NF1):c.7394+21A>G	noncoding	Benign/Likely_benign
17	31352228	G	A	G31352228A	NF1	NM_000267.3(NF1):c.7395-29G>A	noncoding	Benign
17	31352256	G	C	G31352256C	NF1	NM_000267.3(NF1):c.7395-1G>C	noncoding	Pathogenic
17	31352260	A	G	A31352260G	NF1	NM_001042492.3(NF1):c.7461A>G:p.Thr2487=	coding	Benign/Likely_benign
17	31352264	A	T	A31352264T	NF1	NM_001042492.3(NF1):c.7465A>T:p.Lys2489Ter	coding	Pathogenic
17	31352273	C	T	C31352273T	NF1	NM_000267.3(NF1):c.7411C>T:p.Gln2471Ter	coding	Pathogenic
17	31352280	G	A	G31352280A	NF1	NM_001042492.3(NF1):c.7481G>A:p.Trp2494Ter	coding	Pathogenic
17	31352281	G	A	G31352281A	NF1	NM_000267.3(NF1):c.7419G>A:p.Trp2473Ter	coding	Pathogenic
17	31352308	C	A	C31352308A	NF1	NM_000267.3(NF1):c.7446C>A:p.Tyr2482Ter	coding	Pathogenic
17	31352308	C	G	C31352308G	NF1	NM_001042492.3(NF1):c.7509C>G:p.Tyr2503Ter	coding	Pathogenic
17	31352330	G	C	G31352330C	NF1	NM_001042492.3(NF1):c.7531G>C:p.Val2511Leu	coding	Benign/Likely_benign
17	31352332	C	T	C31352332T	NF1	NM_000267.3(NF1):c.7470C>T:p.Val2490=	coding	Benign/Likely_benign
17	31352348	C	T	C31352348T	NF1	NM_000267.3(NF1):c.7486C>T:p.Arg2496Ter	coding	Pathogenic
17	31352381	C	T	C31352381T	NF1	NM_001042492.3(NF1):c.7582C>T:p.Gln2528Ter	coding	Pathogenic
17	31352383	A	G	A31352383G	NF1	NM_001042492.3(NF1):c.7584A>G:p.Gln2528=	coding	Benign/Likely_benign
17	31352390	C	T	C31352390T	NF1	NM_000267.3(NF1):c.7528C>T:p.Gln2510Ter	coding	Pathogenic
17	31352394	C	T	C31352394T	NF1	NM_000267.3(NF1):c.7532C>T:p.Ala2511Val	coding	Benign/Likely_benign
17	31352402	A	T	A31352402T	NF1	NM_001042492.3(NF1):c.7603A>T:p.Lys2535Ter	coding	Pathogenic
17	31352415	G	T	G31352415T	NF1	NM_000267.3(NF1):c.7552+1G>T	coding	Pathogenic/Likely_pathogenic
17	31356490	C	A	C31356490A	NF1	NM_001042492.3(NF1):c.7646C>A:p.Ser2549Ter	coding	Pathogenic
17	31356957	C	G	C31356957G	NF1	NM_001042492.3(NF1):c.7739-3C>G	noncoding	Pathogenic
17	31356976	C	T	C31356976T	NF1	NM_001042492.3(NF1):c.7755C>T:p.Ser2585=	coding	Benign
17	31356981	C	G	C31356981G	NF1	NM_000267.3(NF1):c.7697C>G:p.Ser2566Ter	coding	Pathogenic
17	31356983	C	T	C31356983T	NF1	NM_000267.3(NF1):c.7699C>T:p.Gln2567Ter	coding	Pathogenic
17	31356986	C	T	C31356986T	NF1	NM_000267.3(NF1):c.7702C>T:p.Gln2568Ter	coding	Pathogenic
17	31357011	C	A	C31357011A	NF1	NM_000267.3(NF1):c.7727C>A:p.Ser2576Ter	coding	Pathogenic
17	31357023	C	A	C31357023A	NF1	NM_001042492.3(NF1):c.7802C>A:p.Ser2601Ter	coding	Pathogenic
17	31357091	G	A	G31357091A	NF1	NM_000267.3(NF1):c.7806+1G>A	coding	Pathogenic
17	31357091	G	C	G31357091C	NF1	NM_001042492.3(NF1):c.7869+1G>C	coding	Pathogenic
17	31357266	C	G	C31357266G	NF1	NM_001042492.3(NF1):c.7870-3C>G	noncoding	Pathogenic
17	31357305	C	T	C31357305T	NF1	NM_000267.3(NF1):c.7843C>T:p.Gln2615Ter	coding	Pathogenic
17	31357308	C	T	C31357308T	NF1	NM_000267.3(NF1):c.7846C>T:p.Arg2616Ter	coding	Pathogenic/Likely_pathogenic
17	31357319	T	G	T31357319G	NF1	NM_000267.3(NF1):c.7857T>G:p.Tyr2619Ter	coding	Pathogenic
17	31357325	C	G	C31357325G	NF1	NM_000267.3(NF1):c.7863C>G:p.Tyr2621Ter	coding	Pathogenic
17	31357370	G	A	G31357370A	NF1	NM_000267.3(NF1):c.7907+1G>A	coding	Pathogenic
17	31357535	C	T	C31357535T	NF1	NM_000267.3(NF1):c.7907+166C>T	noncoding	Benign
17	31358132	A	G	A31358132G	NF1	NM_000267.3(NF1):c.7908-348A>G	noncoding	Benign
17	31358461	G	T	G31358461T	NF1	NM_000267.3(NF1):c.7908-19G>T	noncoding	Benign
17	31358491	T	A	T31358491A	NF1	NM_000267.3(NF1):c.7919T>A:p.Leu2640Ter	coding	Pathogenic
17	31358518	C	A	C31358518A	NF1	NM_000267.3(NF1):c.7946C>A:p.Ser2649Ter	coding	Pathogenic
17	31358526	C	T	C31358526T	NF1	NM_000267.3(NF1):c.7954C>T:p.Gln2652Ter	coding	Pathogenic
17	31358570	T	C	T31358570C	NF1	NM_000267.3(NF1):c.7998T>C:p.Ser2666=	coding	Benign/Likely_benign
17	31358583	G	T	G31358583T	NF1	NM_001042492.3(NF1):c.8074G>T:p.Glu2692Ter	coding	Pathogenic
17	31358603	C	A	C31358603A	NF1	NM_001042492.3(NF1):c.8094C>A:p.Tyr2698Ter	coding	Pathogenic
17	31358604	C	T	C31358604T	NF1	NM_000267.3(NF1):c.8032C>T:p.Gln2678Ter	coding	Pathogenic
17	31358642	G	A	G31358642A	NF1	NM_000267.3(NF1):c.8050+20G>A	noncoding	Benign
17	31359006	G	A	G31359006A	NF1	NM_001042492.3(NF1):c.8151G>A:p.Pro2717=	coding	Benign/Likely_benign
17	31359013	A	T	A31359013T	NF1	NM_000267.3(NF1):c.8095A>T:p.Lys2699Ter	coding	Pathogenic
17	31360484	C	G	C31360484G	NF1	NM_001042492.3(NF1):c.8161-3C>G	noncoding	Pathogenic
17	31360485	A	T	A31360485T	NF1	NM_001042492.3(NF1):c.8161-2A>T	noncoding	Pathogenic
17	31360486	G	A	G31360486A	NF1	NM_001042492.3(NF1):c.8161-1G>A	noncoding	Pathogenic
17	31374134	T	C	T31374134C	NF1	NM_001042492.3(NF1):c.8499T>C:p.Asn2833=	coding	Benign/Likely_benign
17	31374159	T	C	T31374159C	NF1	NM_000267.3(NF1):c.*4T>C	noncoding	Benign/Likely_benign
17	31374184	A	G	A31374184G	NF1	NM_001042492.3(NF1):c.*29A>G	noncoding	Benign/Likely_benign
17	31374653	T	G	T31374653G	NF1	NM_000267.3(NF1):c.*498T>G	noncoding	Benign
17	31374696	G	A	G31374696A	NF1	NM_001042492.3(NF1):c.*541G>A	noncoding	Benign/Likely_benign
17	31374737	T	G	T31374737G	NF1	NM_001042492.3(NF1):c.*582T>G	noncoding	Benign/Likely_benign
17	31374740	G	T	G31374740T	NF1	NM_001042492.3(NF1):c.*585G>T	noncoding	Benign
17	31375026	A	T	A31375026T	NF1	NM_000267.3(NF1):c.*871A>T	noncoding	Benign
17	31375028	A	T	A31375028T	NF1	NM_000267.3(NF1):c.*873A>T	noncoding	Benign
17	31375126	T	A	T31375126A	NF1	NM_001042492.3(NF1):c.*971T>A	noncoding	Benign
17	31375319	G	A	G31375319A	NF1	NM_000267.3(NF1):c.*1164G>A	noncoding	Benign
17	31375636	A	G	A31375636G	NF1	NM_001042492.3(NF1):c.*1481A>G	noncoding	Benign
17	31376244	G	A	G31376244A	NF1	NM_000267.3(NF1):c.*2089G>A	noncoding	Benign
17	31376356	G	A	G31376356A	NF1	NM_000267.3(NF1):c.*2201G>A	noncoding	Benign
17	31376420	C	G	C31376420G	NF1	NM_000267.3(NF1):c.*2265C>G	noncoding	Benign
17	31376721	C	T	C31376721T	NF1	NM_000267.3(NF1):c.*2566C>T	noncoding	Benign/Likely_benign
17	31376932	C	T	C31376932T	NF1	NM_001042492.3(NF1):c.*2777C>T	noncoding	Benign
17	31376984	T	C	T31376984C	NF1	NM_000267.3(NF1):c.*2829T>C	noncoding	Benign
17	31377669	G	A	G31377669A	NF1	NM_001042492.3(NF1):c.*3514G>A	noncoding	Benign
17	31886025	C	T	C31886025T	UTP6	NM_018428.3(UTP6):c.658G>A:p.Glu220Lys	coding	Benign
17	31895006	T	C	T31895006C	UTP6	NM_018428.3(UTP6):c.183A>G:p.Glu61=	coding	Benign
17	31899719	T	C	T31899719C	UTP6	NM_018428.3(UTP6):c.104A>G:p.Lys35Arg	coding	Benign
17	31901571	C	T	C31901571T	UTP6	NM_018428.3(UTP6):c.57G>A:p.Leu19=	coding	Benign
17	31937457	G	A	G31937457A	SUZ12	NM_015355.4(SUZ12):c.211G>A:p.Val71Met	coding	Benign
17	31937528	T	C	T31937528C	SUZ12	NM_015355.4(SUZ12):c.274+8T>C	noncoding	Benign
17	31940461	C	T	C31940461T	SUZ12	NM_015355.4(SUZ12):c.361C>T:p.Arg121Ter	coding	Pathogenic
17	31993306	C	T	C31993306T	SUZ12	NM_015355.4(SUZ12):c.1266C>T:p.Asn422=	coding	Benign
17	31995625	C	T	C31995625T	SUZ12	NM_015355.4(SUZ12):c.1657C>T:p.Gln553Ter	coding	Pathogenic
17	31995639	T	C	T31995639C	SUZ12	NM_015355.4(SUZ12):c.1671T>C:p.Tyr557=	coding	Benign
17	31995763	G	A	G31995763A	SUZ12	NM_015355.4(SUZ12):c.1794+1G>A	coding	Pathogenic
17	31996810	T	C	T31996810C	SUZ12	NM_015355.4(SUZ12):c.1807T>C:p.Phe603Leu	coding	Pathogenic
17	31996832	A	T	A31996832T	SUZ12	NM_015355.4(SUZ12):c.1829A>T:p.Glu610Val	coding	Pathogenic
17	31998743	C	T	C31998743T	SUZ12	NM_015355.4(SUZ12):c.1960C>T:p.Arg654Ter	coding	Pathogenic
17	32487830	C	T	C32487830T	CDK5R1	NM_003885.3(CDK5R1):c.210C>T:p.Pro70=	coding	Benign
17	32488049	C	T	C32488049T	CDK5R1	NM_003885.3(CDK5R1):c.429C>T:p.Ile143=	coding	Benign
17	32488418	C	T	C32488418T	CDK5R1	NM_003885.3(CDK5R1):c.798C>T:p.Asn266=	coding	Benign
17	32605158	G	A	G32605158A	MYO1D	NM_015194.3(MYO1D):c.2793C>T:p.Leu931=	coding	Benign
17	32659148	C	T	C32659148T	MYO1D	NM_015194.3(MYO1D):c.2312G>A:p.Arg771His	coding	Benign
17	32659167	G	A	G32659167A	MYO1D	NM_015194.3(MYO1D):c.2293C>T:p.Pro765Ser	coding	Benign
17	32748944	G	A	G32748944A	MYO1D	NM_015194.3(MYO1D):c.1530C>T:p.Gly510=	coding	Benign
17	32755570	G	A	G32755570A	MYO1D	NM_015194.3(MYO1D):c.1389C>T:p.Val463=	coding	Benign
17	32778582	A	G	A32778582G	MYO1D	NM_015194.3(MYO1D):c.305-9T>C	noncoding	Benign
17	32933289	T	C	T32933289C	TMEM98	NM_015544.3(TMEM98):c.247T>C:p.Trp83Arg	coding	Benign
17	32940816	C	T	C32940816T	TMEM98	NM_015544.3(TMEM98):c.504C>T:p.His168=	coding	Benign
17	32940889	G	C	G32940889C	TMEM98	NM_015544.3(TMEM98):c.577G>C:p.Ala193Pro	coding	Pathogenic
17	32940899	A	C	A32940899C	TMEM98	NM_015544.3(TMEM98):c.587A>C:p.His196Pro	coding	Pathogenic
17	32996881	G	A	G32996881A	SPACA3	NM_173847.5(SPACA3):c.382G>A:p.Ala128Thr	coding	Benign
17	32997505	C	T	C32997505T	SPACA3	NM_173847.5(SPACA3):c.563C>T:p.Pro188Leu	coding	Benign
17	32997763	T	C	T32997763C	SPACA3	NM_173847.5(SPACA3):c.633T>C:p.Asp211=	coding	Benign
17	33028396	C	T	C33028396T	ASIC2	NM_183377.1(ASIC2):c.988-4G>A	noncoding	Benign
17	33088971	T	G	T33088971G	ASIC2	NM_183377.1(ASIC2):c.879A>C:p.Ala293=	coding	Benign
17	34287653	A	C	A34287653C	CCL11	NM_002986.3(CCL11):c.257A>C:p.Lys86Thr	coding	Benign
17	34319523	C	T	C34319523T	CCL8	NM_005623.3(CCL8):c.22C>T:p.Leu8=	coding	Benign
17	34319542	C	T	C34319542T	CCL8	NM_005623.3(CCL8):c.41C>T:p.Ala14Val	coding	Benign
17	34320279	C	T	C34320279T	CCL8	NM_005623.3(CCL8):c.87C>T:p.Ser29=	coding	Benign
17	34320363	C	A	C34320363A	CCL8	NM_005623.3(CCL8):c.171C>A:p.Ile57=	coding	Benign
17	34320794	C	T	C34320794T	CCL8	NM_005623.3(CCL8):c.195-8C>T	noncoding	Benign
17	34626441	G	T	G34626441T	TMEM132E	NM_001304438.2(TMEM132E):c.382G>T:p.Ala128Ser	coding	Pathogenic
17	34626974	C	T	C34626974T	TMEM132E	NM_001304438.2(TMEM132E):c.915C>T:p.Pro305=	coding	Benign
17	34630095	G	A	G34630095A	TMEM132E	NM_001304438.2(TMEM132E):c.1426G>A:p.Val476Ile	coding	Benign
17	34632750	G	A	G34632750A	TMEM132E	NM_001304438.2(TMEM132E):c.1529G>A:p.Arg510Gln	coding	Pathogenic
17	34634985	C	T	C34634985T	TMEM132E	NM_001304438.2(TMEM132E):c.1875C>T:p.Thr625=	coding	Benign
17	34635031	C	T	C34635031T	TMEM132E	NM_001304438.2(TMEM132E):c.1921C>T:p.His641Tyr	coding	Benign
17	34635045	C	A	C34635045A	TMEM132E	NM_001304438.2(TMEM132E):c.1935C>A:p.Ser645Arg	coding	Benign
17	34636054	G	A	G34636054A	TMEM132E	NM_001304438.2(TMEM132E):c.2025G>A:p.Thr675=	coding	Benign
17	34637481	C	T	C34637481T	TMEM132E	NM_001304438.2(TMEM132E):c.2474C>T:p.Pro825Leu	coding	Pathogenic
17	34942908	T	C	T34942908C	CCT6B	NM_006584.4(CCT6B):c.615-2A>G	noncoding	Benign
17	34983072	C	T	C34983072T	LIG3	NM_013975.4(LIG3):c.67C>T:p.Leu23=	coding	Benign
17	34983476	C	A	C34983476A	LIG3	NM_013975.4(LIG3):c.471C>A:p.Ile157=	coding	Benign/Likely_benign
17	34986110	C	T	C34986110T	LIG3	NM_013975.4(LIG3):c.670C>T:p.Arg224Trp	coding	Benign
17	34991840	G	T	G34991840T	LIG3	NM_013975.4(LIG3):c.1208+3G>T	noncoding	Benign
17	34992569	G	A	G34992569A	LIG3	NM_013975.4(LIG3):c.1332G>A:p.Ser444=	coding	Benign
17	34992620	G	A	G34992620A	LIG3	NM_013975.4(LIG3):c.1383G>A:p.Val461=	coding	Benign
17	34999841	C	T	C34999841T	LIG3	NM_013975.4(LIG3):c.2316C>T:p.Ile772=	coding	Benign
17	34999875	G	A	G34999875A	LIG3	NM_013975.4(LIG3):c.2331+19G>A	noncoding	Benign
17	35001292	C	T	C35001292T	LIG3	NM_013975.4(LIG3):c.2367C>T:p.Phe789=	coding	Benign
17	35001397	A	G	A35001397G	LIG3	NM_013975.4(LIG3):c.2472A>G:p.Gln824=	coding	Benign
17	35002090	C	T	C35002090T	LIG3	NM_013975.4(LIG3):c.2660C>T:p.Ser887Phe	coding	Benign
17	35002705	G	C	G35002705C	LIG3	NM_013975.4(LIG3):c.2712G>C:p.Val904=	coding	Benign
17	35004301	G	A	G35004301A	LIG3	NM_013975.4(LIG3):c.2825G>A:p.Arg942Gln	coding	Benign
17	35004437	G	A	G35004437A	LIG3	NM_013975.4(LIG3):c.2961G>A:p.Ala987=	coding	Benign
17	35021396	G	T	G35021396T	RFFL	NM_001017368.2(RFFL):c.566C>A:p.Pro189Gln	coding	Benign
17	35021522	C	T	C35021522T	RFFL	NM_001017368.2(RFFL):c.440G>A:p.Arg147His	coding	Benign
17	35100946	G	A	G35100946A	RAD51D	NM_002878.3(RAD51D):c.*7C>T	noncoding	Benign/Likely_benign
17	35101231	G	A	G35101231A	RAD51D	NM_002878.3(RAD51D):c.873C>T:p.Arg291=	coding	Benign/Likely_benign
17	35101301	C	T	C35101301T	RAD51D	NM_002878.3(RAD51D):c.803G>A:p.Trp268Ter	coding	Pathogenic
17	35101333	G	A	G35101333A	RAD51D	NM_002878.3(RAD51D):c.771C>T:p.Ser257=	coding	Benign/Likely_benign
17	35101347	G	A	G35101347A	RAD51D	NM_002878.3(RAD51D):c.757C>T:p.Arg253Ter	coding	Pathogenic
17	35103123	C	A	C35103123A	RAD51D	NM_002878.3(RAD51D):c.738+131G>T	noncoding	Benign
17	35103294	T	C	T35103294C	RAD51D	NM_001142571.2(RAD51D):c.758A>G:p.Glu253Gly	coding	Benign/Likely_benign
17	35103297	C	T	C35103297T	RAD51D	NM_001142571.2(RAD51D):c.755G>A:p.Arg252Gln	coding	Benign/Likely_benign
17	35103298	G	A	G35103298A	RAD51D	NM_002878.3(RAD51D):c.694C>T:p.Arg232Ter	coding	Pathogenic
17	35103307	G	A	G35103307A	RAD51D	NM_002878.3(RAD51D):c.685C>T:p.Gln229Ter	coding	Pathogenic
17	35103321	A	T	A35103321T	RAD51D	NM_002878.3(RAD51D):c.671T>A:p.Leu224Ter	coding	Pathogenic
17	35103455	T	C	T35103455C	RAD51D	NM_001142571.2(RAD51D):c.726A>G:p.Glu242=	coding	Benign/Likely_benign
17	35103466	G	A	G35103466A	RAD51D	NM_002878.3(RAD51D):c.655C>T:p.Gln219Ter	coding	Pathogenic/Likely_pathogenic
17	35103472	C	A	C35103472A	RAD51D	NM_002878.3(RAD51D):c.649G>T:p.Gly217Ter	coding	Pathogenic/Likely_pathogenic
17	35103546	T	C	T35103546C	RAD51D	NM_002878.3(RAD51D):c.577-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	35106368	G	A	G35106368A	RAD51D	NM_002878.3(RAD51D):c.576+18C>T	noncoding	Benign/Likely_benign
17	35106385	C	T	C35106385T	RAD51D	NM_002878.3(RAD51D):c.576+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	35106406	G	A	G35106406A	RAD51D	NM_002878.3(RAD51D):c.556C>T:p.Arg186Ter	coding	Pathogenic
17	35106415	G	A	G35106415A	RAD51D	NM_002878.3(RAD51D):c.547C>T:p.Gln183Ter	coding	Pathogenic
17	35106468	C	T	C35106468T	RAD51D	NM_002878.3(RAD51D):c.494G>A:p.Arg165Gln	coding	Benign
17	35106488	C	T	C35106488T	RAD51D	NM_002878.3(RAD51D):c.481-7G>A	noncoding	Benign/Likely_benign
17	35106625	A	G	A35106625G	RAD51D	NM_002878.3(RAD51D):c.481-144T>C	noncoding	Benign
17	35106801	A	G	A35106801G	RAD51D	NM_002878.3(RAD51D):c.480+187T>C	noncoding	Benign
17	35106990	G	A	G35106990A	RAD51D	NM_002878.3(RAD51D):c.478C>T:p.Gln160Ter	coding	Pathogenic
17	35107005	G	A	G35107005A	RAD51D	NM_002878.3(RAD51D):c.463C>T:p.Gln155Ter	coding	Pathogenic
17	35107017	G	A	G35107017A	RAD51D	NM_002878.3(RAD51D):c.451C>T:p.Gln151Ter	coding	Pathogenic/Likely_pathogenic
17	35107026	G	A	G35107026A	RAD51D	NM_002878.3(RAD51D):c.442C>T:p.Gln148Ter	coding	Pathogenic
17	35107083	G	A	G35107083A	RAD51D	NM_002878.3(RAD51D):c.385C>T:p.Gln129Ter	coding	Pathogenic/Likely_pathogenic
17	35107117	A	T	A35107117T	RAD51D	NM_002878.3(RAD51D):c.351T>A:p.Cys117Ter	coding	Pathogenic
17	35107368	G	A	G35107368A	RAD51D	NM_002878.3(RAD51D):c.343C>T:p.Gln115Ter	coding	Pathogenic
17	35116896	C	T	C35116896T	RAD51D	NM_002878.3(RAD51D):c.263+1605G>A	coding	Benign/Likely_benign
17	35116931	A	T	A35116931T	RAD51D	NM_002878.3(RAD51D):c.263+1570T>A	coding	Benign/Likely_benign
17	35118530	G	A	G35118530A	RAD51D	NM_002878.3(RAD51D):c.234C>T:p.Ser78=	coding	Benign
17	35118548	G	A	G35118548A	RAD51D	NM_002878.3(RAD51D):c.216C>T:p.Tyr72=	coding	Benign/Likely_benign
17	35118548	G	T	G35118548T	RAD51D	NM_002878.3(RAD51D):c.216C>A:p.Tyr72Ter	coding	Pathogenic
17	35118579	G	T	G35118579T	RAD51D	NM_002878.3(RAD51D):c.185C>A:p.Ser62Ter	coding	Pathogenic
17	35118586	G	A	G35118586A	RAD51D	NM_002878.3(RAD51D):c.178C>T:p.Gln60Ter	coding	Pathogenic
17	35119114	G	C	G35119114C	RAD51D	NM_002878.3(RAD51D):c.141C>G:p.Tyr47Ter	coding	Pathogenic
17	35119114	G	T	G35119114T	RAD51D	NM_002878.3(RAD51D):c.141C>A:p.Tyr47Ter	coding	Pathogenic
17	35119587	G	T	G35119587T	RAD51D	NM_002878.3(RAD51D):c.27C>A:p.Cys9Ter	coding	Pathogenic
17	35119595	C	A	C35119595A	RAD51D	NM_133629.3(RAD51D):c.19G>T:p.Gly7Ter	coding	Pathogenic
17	35119851	T	A	T35119851A	RAD51D	NM_002878.3(RAD51D):c.-238A>T	noncoding	Benign
17	35142033	G	A	G35142033A	NLE1	NM_018096.5(NLE1):c.108C>T:p.Pro36=	coding	Benign
17	35148293	G	A	G35148293A	UNC45B	NM_001267052.2(UNC45B):c.30G>A:p.Lys10=	coding	Benign
17	35148407	C	T	C35148407T	UNC45B	NM_001267052.2(UNC45B):c.144C>T:p.Asn48=	coding	Benign
17	35150223	G	A	G35150223A	UNC45B	NM_001267052.2(UNC45B):c.381G>A:p.Lys127=	coding	Benign
17	35154698	C	T	C35154698T	UNC45B	NM_001267052.2(UNC45B):c.596C>T:p.Ala199Val	coding	Benign
17	35164050	G	A	G35164050A	UNC45B	NM_001267052.2(UNC45B):c.1035G>A:p.Leu345=	coding	Benign
17	35164114	C	T	C35164114T	UNC45B	NM_001267052.2(UNC45B):c.1099C>T:p.Arg367Cys	coding	Benign
17	35164145	A	G	A35164145G	UNC45B	NM_001267052.2(UNC45B):c.1130A>G:p.Lys377Arg	coding	Benign/Likely_benign
17	35168322	G	A	G35168322A	UNC45B	NM_001267052.2(UNC45B):c.1413G>A:p.Lys471=	coding	Benign
17	35169851	C	T	C35169851T	UNC45B	NM_001267052.2(UNC45B):c.1467C>T:p.Leu489=	coding	Benign
17	35170231	G	T	G35170231T	UNC45B	NM_001267052.2(UNC45B):c.1665G>T:p.Leu555=	coding	Benign
17	35177010	C	T	C35177010T	UNC45B	NM_001267052.2(UNC45B):c.2026-7C>T	noncoding	Benign
17	35177544	A	C	A35177544C	UNC45B	NM_001267052.2(UNC45B):c.2189A>C:p.Asp730Ala	coding	Benign
17	35177610	G	A	G35177610A	UNC45B	NM_001267052.2(UNC45B):c.2255G>A:p.Arg752Gln	coding	Pathogenic
17	35183460	C	T	C35183460T	UNC45B	NM_001267052.2(UNC45B):c.2407C>T:p.Arg803Trp	coding	Pathogenic
17	35183567	C	T	C35183567T	UNC45B	NM_001267052.2(UNC45B):c.2514C>T:p.Leu838=	coding	Benign
17	35186318	T	A	T35186318A	UNC45B	NM_001267052.2(UNC45B):c.2549T>A:p.Ile850Asn	coding	Benign
17	35258866	A	G	A35258866G	SLFN5	NM_144975.4(SLFN5):c.176A>G:p.Lys59Arg	coding	Benign
17	35259519	G	A	G35259519A	SLFN5	NM_144975.4(SLFN5):c.829G>A:p.Val277Ile	coding	Benign
17	35259709	G	A	G35259709A	SLFN5	NM_144975.4(SLFN5):c.1012+7G>A	noncoding	Benign
17	35265319	T	C	T35265319C	SLFN5	NM_144975.4(SLFN5):c.2107T>C:p.Tyr703His	coding	Benign
17	35352616	C	T	C35352616T	SLFN11	NM_001104587.2(SLFN11):c.2446G>A:p.Ala816Thr	coding	Benign
17	35353489	C	T	C35353489T	SLFN11	NM_001104587.2(SLFN11):c.1769G>A:p.Arg590His	coding	Benign
17	35353764	T	C	T35353764C	SLFN11	NM_001104587.2(SLFN11):c.1494A>G:p.Leu498=	coding	Benign
17	35440673	T	C	T35440673C	SLFN13	NM_144682.6(SLFN13):c.2616A>G:p.Thr872=	coding	Benign
17	35441315	T	G	T35441315G	SLFN13	NM_144682.6(SLFN13):c.1974A>C:p.Lys658Asn	coding	Benign
17	35479525	T	A	T35479525A	SLFN12L	NM_001195790.1(SLFN12L):c.685A>T:p.Thr229Ser	coding	Benign
17	35480011	A	T	A35480011T	SLFN12L	NM_001195790.1(SLFN12L):c.199T>A:p.Cys67Ser	coding	Benign
17	35548791	G	C	G35548791C	SLFN14	NM_001129820.2(SLFN14):c.2187C>G:p.Thr729=	coding	Benign
17	35552762	A	G	A35552762G	SLFN14	NM_001129820.2(SLFN14):c.1872T>C:p.Val624=	coding	Benign
17	35552795	C	T	C35552795T	SLFN14	NM_001129820.2(SLFN14):c.1839G>A:p.Leu613=	coding	Benign
17	35553178	G	A	G35553178A	SLFN14	NM_001129820.2(SLFN14):c.1456C>T:p.Arg486Ter	coding	Benign
17	35557396	G	A	G35557396A	SLFN14	NM_001129820.1(SLFN14):c.667C>T:p.Arg223Trp	coding	Pathogenic
17	35557404	A	T	A35557404T	SLFN14	NM_001129820.1(SLFN14):c.659T>A:p.Val220Asp	coding	Pathogenic/Likely_pathogenic
17	35557406	T	A	T35557406A	SLFN14	NM_001129820.1(SLFN14):c.657A>T:p.Lys219Asn	coding	Pathogenic/Likely_pathogenic
17	35557548	A	G	A35557548G	SLFN14	NM_001129820.2(SLFN14):c.515T>C:p.Val172Ala	coding	Benign
17	35557703	T	C	T35557703C	SLFN14	NM_001129820.2(SLFN14):c.360A>G:p.Pro120=	coding	Benign
17	35574946	C	G	C35574946G	PEX12	NM_000286.3(PEX12):c.*836G>C	noncoding	Benign
17	35575001	A	T	A35575001T	PEX12	NM_000286.3(PEX12):c.*781T>A	noncoding	Benign
17	35575146	A	G	A35575146G	PEX12	NM_000286.3(PEX12):c.*636T>C	noncoding	Benign
17	35575265	T	C	T35575265C	PEX12	NM_000286.3(PEX12):c.*517A>G	noncoding	Benign
17	35575485	A	G	A35575485G	PEX12	NM_000286.3(PEX12):c.*297T>C	noncoding	Benign
17	35575616	G	T	G35575616T	PEX12	NM_000286.3(PEX12):c.*166C>A	noncoding	Benign
17	35575995	G	A	G35575995A	PEX12	NM_000286.3(PEX12):c.867C>T:p.Asp289=	coding	Benign
17	35576073	C	T	C35576073T	PEX12	NM_000286.3(PEX12):c.789G>A:p.Trp263Ter	coding	Pathogenic/Likely_pathogenic
17	35576129	A	T	A35576129T	PEX12	NM_000286.3(PEX12):c.733T>A:p.Leu245Ile	coding	Benign
17	35576171	T	A	T35576171A	PEX12	NM_000286.3(PEX12):c.691A>T:p.Lys231Ter	coding	Pathogenic
17	35577093	G	A	G35577093A	PEX12	NM_000286.3(PEX12):c.625C>T:p.Gln209Ter	coding	Pathogenic/Likely_pathogenic
17	35577114	G	A	G35577114A	PEX12	NM_000286.3(PEX12):c.604C>T:p.Arg202Ter	coding	Pathogenic
17	35577180	G	A	G35577180A	PEX12	NM_000286.3(PEX12):c.538C>T:p.Arg180Ter	coding	Pathogenic
17	35577384	G	A	G35577384A	PEX12	NM_000286.3(PEX12):c.334C>T:p.Gln112Ter	coding	Pathogenic/Likely_pathogenic
17	35577445	T	A	T35577445A	PEX12	NM_000286.3(PEX12):c.273A>T:p.Arg91Ser	coding	Pathogenic
17	35577895	C	A	C35577895A	PEX12	NM_000286.3(PEX12):c.126+1G>T	noncoding	Pathogenic
17	35577920	T	A	T35577920A	PEX12	NM_000286.3(PEX12):c.102A>T:p.Arg34Ser	coding	Benign/Likely_benign
17	35577936	A	C	A35577936C	PEX12	NM_000286.3(PEX12):c.86T>G:p.Leu29Ter	coding	Pathogenic
17	35578449	A	G	A35578449G	PEX12	NM_000286.3(PEX12):c.-428T>C	noncoding	Benign
17	35578555	G	A	G35578555A	PEX12	NM_000286.3(PEX12):c.-534C>T	noncoding	Benign
17	35624468	G	A	G35624468A	AP2B1	NM_001030006.2(AP2B1):c.597G>A:p.Leu199=	coding	Benign
17	35824074	G	C	G35824074C	TAF15	NM_139215.3(TAF15):c.485-4G>C	noncoding	Benign
17	35838516	C	T	C35838516T	TAF15	NM_139215.3(TAF15):c.876C>T:p.Asp292=	coding	Benign
17	35844646	C	T	C35844646T	TAF15	NM_139215.3(TAF15):c.1347C>T:p.Asp449=	coding	Benign
17	35844658	T	C	T35844658C	TAF15	NM_139215.3(TAF15):c.1359T>C:p.Gly453=	coding	Benign
17	35844745	T	C	T35844745C	TAF15	NM_139215.3(TAF15):c.1446T>C:p.Asp482=	coding	Benign
17	35844923	G	A	G35844923A	TAF15	NM_139215.3(TAF15):c.1624G>A:p.Gly542Ser	coding	Benign
17	35844985	A	C	A35844985C	TAF15	NM_139215.3(TAF15):c.1686A>C:p.Arg562=	coding	Benign
17	36486720	C	T	C36486720T	ZNHIT3	NM_004773.4(ZNHIT3):c.21C>T:p.Ser7=	coding	Benign
17	36486794	G	A	G36486794A	ZNHIT3	NM_004773.4(ZNHIT3):c.86+9G>A	noncoding	Benign
17	36498533	T	C	T36498533C	MYO19	NM_001163735.1(MYO19):c.2490A>G:p.Lys830=	coding	Benign
17	36515976	G	A	G36515976A	MYO19	NM_001163735.1(MYO19):c.429C>T:p.Arg143=	coding	Benign
17	36537312	A	C	A36537312C	PIGW	NM_001346754.2(PIGW):c.211A>C:p.Thr71Pro	coding	Pathogenic
17	36537354	G	A	G36537354A	PIGW	NM_001346754.2(PIGW):c.253G>A:p.Gly85Ser	coding	Benign
17	36537561	A	G	A36537561G	PIGW	NM_001346754.2(PIGW):c.460A>G:p.Arg154Gly	coding	Pathogenic
17	36537600	A	G	A36537600G	PIGW	NM_001346754.2(PIGW):c.499A>G:p.Met167Val	coding	Pathogenic
17	36537806	C	G	C36537806G	PIGW	NM_001346754.2(PIGW):c.705C>G:p.His235Gln	coding	Benign/Likely_benign
17	36538121	C	T	C36538121T	PIGW	NM_001346754.2(PIGW):c.1020C>T:p.Ala340=	coding	Benign
17	37113096	T	G	T37113096G	ACACA	NM_198834.3(ACACA):c.6444A>C:p.Arg2148=	coding	Benign
17	37181363	G	C	G37181363C	ACACA	NM_198834.3(ACACA):c.4777-7C>G	noncoding	Benign
17	37235105	C	T	C37235105T	ACACA	NM_198834.3(ACACA):c.3122-6G>A	noncoding	Benign
17	37252940	C	T	C37252940T	ACACA	NM_198834.3(ACACA):c.1923G>A:p.Gln641=	coding	Benign
17	37686434	T	C	T37686434C	HNF1B	NM_000458.4(HNF1B):c.*938A>G	noncoding	Benign
17	37686448	G	C	G37686448C	HNF1B	NM_000458.4(HNF1B):c.*924C>G	noncoding	Benign
17	37686568	A	G	A37686568G	HNF1B	NM_000458.4(HNF1B):c.*804T>C	noncoding	Benign
17	37686595	C	T	C37686595T	HNF1B	NM_000458.4(HNF1B):c.*777G>A	noncoding	Benign
17	37686689	C	T	C37686689T	HNF1B	NM_000458.4(HNF1B):c.*683G>A	noncoding	Benign
17	37686713	C	T	C37686713T	HNF1B	NM_000458.4(HNF1B):c.*659G>A	noncoding	Benign
17	37686969	T	C	T37686969C	HNF1B	NM_000458.4(HNF1B):c.*403A>G	noncoding	Benign
17	37686988	T	C	T37686988C	HNF1B	NM_000458.4(HNF1B):c.*384A>G	noncoding	Benign
17	37687273	G	T	G37687273T	HNF1B	NM_000458.4(HNF1B):c.*99C>A	noncoding	Benign
17	37687325	A	C	A37687325C	HNF1B	NM_000458.4(HNF1B):c.*47T>G	coding	Benign
17	37687394	T	A	T37687394A	HNF1B	NM_000458.4(HNF1B):c.1654-2A>T	noncoding	Pathogenic
17	37687498	G	A	G37687498A	HNF1B	NM_000458.4(HNF1B):c.1654-106C>T	noncoding	Benign
17	37699168	G	A	G37699168A	HNF1B	NM_000458.4(HNF1B):c.1561C>T:p.Gln521Ter	coding	Pathogenic/Likely_pathogenic
17	37699240	A	C	A37699240C	HNF1B	NM_000458.4(HNF1B):c.1535-46T>G	noncoding	Benign
17	37699371	A	G	A37699371G	HNF1B	NM_000458.4(HNF1B):c.1535-177T>C	noncoding	Benign
17	37700731	C	G	C37700731G	HNF1B	NM_000458.4(HNF1B):c.1534+252G>C	noncoding	Benign
17	37701088	G	A	G37701088A	HNF1B	NM_000458.4(HNF1B):c.1429C>T:p.Gln477Ter	coding	Pathogenic
17	37701104	G	A	G37701104A	HNF1B	NM_000458.4(HNF1B):c.1413C>T:p.Pro471=	coding	Benign/Likely_benign
17	37701109	G	A	G37701109A	HNF1B	NM_000458.4(HNF1B):c.1408C>T:p.Gln470Ter	coding	Pathogenic
17	37701157	G	A	G37701157A	HNF1B	NM_000458.4(HNF1B):c.1360C>T:p.Gln454Ter	coding	Pathogenic
17	37701274	C	T	C37701274T	HNF1B	NM_000458.4(HNF1B):c.1340-97G>A	noncoding	Benign
17	37704916	C	T	C37704916T	HNF1B	NM_000458.4(HNF1B):c.1339+1G>A	noncoding	Pathogenic
17	37705017	G	A	G37705017A	HNF1B	NM_000458.4(HNF1B):c.1239C>T:p.Val413=	coding	Benign
17	37710502	C	G	C37710502G	HNF1B	NM_000458.4(HNF1B):c.1206+1G>C	noncoding	Pathogenic
17	37710502	C	T	C37710502T	HNF1B	NM_000458.4(HNF1B):c.1206+1G>A	noncoding	Pathogenic
17	37710565	G	A	G37710565A	HNF1B	NM_000458.4(HNF1B):c.1144C>T:p.Gln382Ter	coding	Pathogenic
17	37710573	G	T	G37710573T	HNF1B	NM_000458.4(HNF1B):c.1136C>A:p.Ser379Ter	coding	Pathogenic
17	37710665	T	C	T37710665C	HNF1B	NM_000458.4(HNF1B):c.1046-2A>G	noncoding	Pathogenic
17	37731265	C	G	C37731265G	HNF1B	NM_000458.4(HNF1B):c.1045+330G>C	noncoding	Benign
17	37731634	G	T	G37731634T	HNF1B	NM_000458.4(HNF1B):c.1006C>A:p.His336Asn	coding	Benign
17	37731689	G	C	G37731689C	HNF1B	NM_000458.4(HNF1B):c.951C>G:p.Ala317=	coding	Benign/Likely_benign
17	37731709	G	A	G37731709A	HNF1B	NM_000458.4(HNF1B):c.931C>T:p.Gln311Ter	coding	Pathogenic
17	37731757	G	A	G37731757A	HNF1B	NM_000458.4(HNF1B):c.883C>T:p.Arg295Cys	coding	Pathogenic
17	37731771	A	T	A37731771T	HNF1B	NM_000458.4(HNF1B):c.869T>A:p.Leu290Ter	coding	Pathogenic
17	37731775	T	C	T37731775C	HNF1B	NM_000458.4(HNF1B):c.865A>G:p.Asn289Asp	coding	Pathogenic
17	37731786	C	T	C37731786T	HNF1B	NM_000458.4(HNF1B):c.854G>A:p.Gly285Asp	coding	Pathogenic
17	37731788	G	A	G37731788A	HNF1B	NM_000458.4(HNF1B):c.852C>T:p.His284=	coding	Benign
17	37731813	C	T	C37731813T	HNF1B	NM_000458.4(HNF1B):c.827G>A:p.Arg276Gln	coding	Pathogenic
17	37731814	G	A	G37731814A	HNF1B	NM_000458.4(HNF1B):c.826C>T:p.Arg276Ter	coding	Pathogenic
17	37731817	G	A	G37731817A	HNF1B	NM_000458.4(HNF1B):c.823C>T:p.Gln275Ter	coding	Pathogenic
17	37731832	T	G	T37731832G	HNF1B	NM_000458.4(HNF1B):c.810-2A>C	noncoding	Pathogenic
17	37733556	C	A	C37733556A	HNF1B	NM_000458.4(HNF1B):c.809+1G>T	noncoding	Pathogenic
17	37733556	C	T	C37733556T	HNF1B	NM_000458.4(HNF1B):c.809+1G>A	noncoding	Pathogenic
17	37733624	G	A	G37733624A	HNF1B	NM_000458.4(HNF1B):c.742C>T:p.Gln248Ter	coding	Pathogenic
17	37733650	C	T	C37733650T	HNF1B	NM_000458.4(HNF1B):c.716G>A:p.Gly239Glu	coding	Pathogenic
17	37733651	C	G	C37733651G	HNF1B	NM_000458.4(HNF1B):c.715G>C:p.Gly239Arg	coding	Pathogenic
17	37733682	G	C	G37733682C	HNF1B	NM_000458.4(HNF1B):c.684C>G:p.Asn228Lys	coding	Benign/Likely_benign
17	37733706	A	G	A37733706G	HNF1B	NM_000458.4(HNF1B):c.660T>C:p.Asp220=	coding	Benign
17	37733709	G	A	G37733709A	HNF1B	NM_000458.4(HNF1B):c.657C>T:p.Ser219=	coding	Benign/Likely_benign
17	37739439	C	A	C37739439A	HNF1B	NM_000458.4(HNF1B):c.544+1G>T	noncoding	Pathogenic
17	37739439	C	G	C37739439G	HNF1B	NM_000458.4(HNF1B):c.544+1G>C	noncoding	Pathogenic
17	37739439	C	T	C37739439T	HNF1B	NM_000458.4(HNF1B):c.544+1G>A	noncoding	Pathogenic
17	37739440	G	A	G37739440A	HNF1B	NM_000458.4(HNF1B):c.544C>T:p.Gln182Ter	coding	Pathogenic
17	37739443	G	A	G37739443A	HNF1B	NM_000458.4(HNF1B):c.541C>T:p.Arg181Ter	coding	Pathogenic
17	37739455	G	A	G37739455A	HNF1B	NM_000458.4(HNF1B):c.529C>T:p.Arg177Ter	coding	Pathogenic
17	37739458	G	A	G37739458A	HNF1B	NM_000458.4(HNF1B):c.526C>T:p.Gln176Ter	coding	Pathogenic
17	37739468	G	C	G37739468C	HNF1B	NM_000458.4(HNF1B):c.516C>G:p.Tyr172Ter	coding	Pathogenic
17	37739471	C	T	C37739471T	HNF1B	NM_000458.4(HNF1B):c.513G>A:p.Trp171Ter	coding	Pathogenic
17	37739479	A	G	A37739479G	HNF1B	NM_000458.4(HNF1B):c.505T>C:p.Tyr169His	coding	Pathogenic
17	37739491	G	A	G37739491A	HNF1B	NM_000458.4(HNF1B):c.493C>T:p.Arg165Cys	coding	Pathogenic
17	37739494	T	G	T37739494G	HNF1B	NM_000458.4(HNF1B):c.490A>C:p.Lys164Gln	coding	Pathogenic
17	37739503	T	A	T37739503A	HNF1B	NM_000458.4(HNF1B):c.481A>T:p.Lys161Ter	coding	Pathogenic
17	37739506	T	C	T37739506C	HNF1B	NM_000458.4(HNF1B):c.478A>G:p.Met160Val	coding	Pathogenic
17	37739518	T	C	T37739518C	HNF1B	NM_000458.4(HNF1B):c.466A>G:p.Lys156Glu	coding	Pathogenic
17	37739527	G	T	G37739527T	HNF1B	NM_000458.4(HNF1B):c.457C>A:p.His153Asn	coding	Pathogenic
17	37739541	G	A	G37739541A	HNF1B	NM_000458.4(HNF1B):c.443C>T:p.Ser148Leu	coding	Pathogenic
17	37739541	G	C	G37739541C	HNF1B	NM_000458.4(HNF1B):c.443C>G:p.Ser148Trp	coding	Pathogenic
17	37739545	G	A	G37739545A	HNF1B	NM_000458.4(HNF1B):c.439C>T:p.Gln147Ter	coding	Pathogenic
17	37739578	G	A	G37739578A	HNF1B	NM_000458.4(HNF1B):c.406C>T:p.Gln136Ter	coding	Pathogenic
17	37739578	G	C	G37739578C	HNF1B	NM_000458.4(HNF1B):c.406C>G:p.Gln136Glu	coding	Pathogenic
17	37739586	T	C	T37739586C	HNF1B	NM_000458.4(HNF1B):c.398A>G:p.Asn133Ser	coding	Pathogenic
17	37739593	G	A	G37739593A	HNF1B	NM_000458.4(HNF1B):c.391C>T:p.Gln131Ter	coding	Pathogenic
17	37739610	A	G	A37739610G	HNF1B	NM_000458.4(HNF1B):c.374T>C:p.Ile125Thr	coding	Pathogenic
17	37739628	C	T	C37739628T	HNF1B	NM_000458.4(HNF1B):c.356G>A:p.Trp119Ter	coding	Pathogenic
17	37739640	C	A	C37739640A	HNF1B	NM_000458.4(HNF1B):c.345-1G>T	coding	Pathogenic/Likely_pathogenic
17	37739640	C	T	C37739640T	HNF1B	NM_000458.4(HNF1B):c.345-1G>A	coding	Pathogenic
17	37739658	G	A	G37739658A	HNF1B	NM_000458.4(HNF1B):c.345-19C>T	noncoding	Benign
17	37739867	G	C	G37739867C	HNF1B	NM_000458.4(HNF1B):c.345-228C>G	noncoding	Benign
17	37744285	C	G	C37744285G	HNF1B	NM_000458.4(HNF1B):c.344+256G>C	noncoding	Benign
17	37744313	C	G	C37744313G	HNF1B	NM_000458.4(HNF1B):c.344+228G>C	noncoding	Benign
17	37744539	A	G	A37744539G	HNF1B	NM_000458.4(HNF1B):c.344+2T>C	noncoding	Pathogenic
17	37744540	C	T	C37744540T	HNF1B	NM_000458.4(HNF1B):c.344+1G>A	noncoding	Pathogenic
17	37744550	C	G	C37744550G	HNF1B	NM_000458.4(HNF1B):c.335G>C:p.Arg112Pro	coding	Pathogenic
17	37744584	C	A	C37744584A	HNF1B	NM_000458.4(HNF1B):c.301G>T:p.Glu101Ter	coding	Pathogenic
17	37744644	C	A	C37744644A	HNF1B	NM_000458.4(HNF1B):c.241G>T:p.Glu81Ter	coding	Pathogenic
17	37744653	C	A	C37744653A	HNF1B	NM_000458.4(HNF1B):c.232G>T:p.Glu78Ter	coding	Pathogenic
17	37744664	A	T	A37744664T	HNF1B	NM_000458.4(HNF1B):c.221T>A:p.Leu74Ter	coding	Pathogenic/Likely_pathogenic
17	37744812	C	A	C37744812A	HNF1B	NM_000458.4(HNF1B):c.73G>T:p.Val25Leu	coding	Benign/Likely_benign
17	37744882	C	A	C37744882A	HNF1B	NM_000458.4(HNF1B):c.3G>T:p.Met1Ile	coding	Pathogenic
17	37744882	C	T	C37744882T	HNF1B	NM_000458.4(HNF1B):c.3G>A:p.Met1Ile	coding	Pathogenic
17	37744915	G	C	G37744915C	HNF1B	NM_000458.4(HNF1B):c.-31C>G	noncoding	Benign/Likely_benign
17	37744951	G	A	G37744951A	HNF1B	NM_000458.4(HNF1B):c.-67C>T	noncoding	Benign
17	38325852	C	G	C38325852G	GPR179	NM_001004334.4(GPR179):c.*613G>C	noncoding	Benign
17	38325942	C	T	C38325942T	GPR179	NM_001004334.4(GPR179):c.*523G>A	noncoding	Benign
17	38326103	C	T	C38326103T	GPR179	NM_001004334.4(GPR179):c.*362G>A	noncoding	Benign
17	38326489	A	C	A38326489C	GPR179	NM_001004334.4(GPR179):c.7080T>G:p.Thr2360=	coding	Benign
17	38326745	A	G	A38326745G	GPR179	NM_001004334.4(GPR179):c.6824T>C:p.Leu2275Pro	coding	Benign
17	38326771	A	C	A38326771C	GPR179	NM_001004334.4(GPR179):c.6798T>G:p.Phe2266Leu	coding	Benign
17	38327639	G	T	G38327639T	GPR179	NM_001004334.4(GPR179):c.5930C>A:p.Pro1977His	coding	Benign
17	38327964	G	C	G38327964C	GPR179	NM_001004334.4(GPR179):c.5605C>G:p.Gln1869Glu	coding	Benign
17	38328184	G	A	G38328184A	GPR179	NM_001004334.4(GPR179):c.5385C>T:p.Gly1795=	coding	Benign/Likely_benign
17	38329428	A	G	A38329428G	GPR179	NM_001004334.4(GPR179):c.4141T>C:p.Cys1381Arg	coding	Benign
17	38329590	C	T	C38329590T	GPR179	NM_001004334.4(GPR179):c.3979G>A:p.Asp1327Asn	coding	Benign
17	38329688	C	T	C38329688T	GPR179	NM_001004334.4(GPR179):c.3881G>A:p.Arg1294Gln	coding	Benign
17	38329889	T	C	T38329889C	GPR179	NM_001004334.4(GPR179):c.3680A>G:p.Lys1227Arg	coding	Benign
17	38330000	C	T	C38330000T	GPR179	NM_001004334.4(GPR179):c.3569G>A:p.Arg1190Gln	coding	Benign
17	38330115	A	G	A38330115G	GPR179	NM_001004334.4(GPR179):c.3454T>C:p.Ser1152Pro	coding	Benign/Likely_benign
17	38330121	T	C	T38330121C	GPR179	NM_001004334.4(GPR179):c.3448A>G:p.Lys1150Glu	coding	Benign
17	38330581	C	T	C38330581T	GPR179	NM_001004334.4(GPR179):c.2988G>A:p.Glu996=	coding	Benign
17	38330645	G	T	G38330645T	GPR179	NM_001004334.4(GPR179):c.2924C>A:p.Ala975Asp	coding	Benign
17	38330919	G	A	G38330919A	GPR179	NM_001004334.4(GPR179):c.2650C>T:p.Arg884Trp	coding	Benign
17	38331177	C	T	C38331177T	GPR179	NM_001004334.4(GPR179):c.2392G>A:p.Ala798Thr	coding	Benign
17	38333266	G	A	G38333266A	GPR179	NM_001004334.4(GPR179):c.2022C>T:p.Asp674=	coding	Benign
17	38334016	G	A	G38334016A	GPR179	NM_001004334.4(GPR179):c.1807C>T:p.His603Tyr	coding	Pathogenic
17	38334703	C	T	C38334703T	GPR179	NM_001004334.4(GPR179):c.1784+1G>A	noncoding	Pathogenic
17	38335083	C	T	C38335083T	GPR179	NM_001004334.4(GPR179):c.1595G>A:p.Arg532His	coding	Benign
17	38335135	G	A	G38335135A	GPR179	NM_001004334.4(GPR179):c.1543C>T:p.Arg515Ter	coding	Pathogenic
17	38335201	G	A	G38335201A	GPR179	NM_001004334.4(GPR179):c.1477C>T:p.His493Tyr	coding	Benign
17	38337703	A	T	A38337703T	GPR179	NM_001004334.4(GPR179):c.921T>A:p.Ser307Arg	coding	Benign
17	38339440	G	A	G38339440A	GPR179	NM_001004334.4(GPR179):c.880C>T:p.Leu294=	coding	Benign
17	38343117	G	A	G38343117A	GPR179	NM_001004334.4(GPR179):c.673C>T:p.Gln225Ter	coding	Pathogenic
17	38343131	T	C	T38343131C	GPR179	NM_001004334.4(GPR179):c.659A>G:p.Tyr220Cys	coding	Pathogenic
17	38343145	C	T	C38343145T	GPR179	NM_001004334.4(GPR179):c.645G>A:p.Pro215=	coding	Benign
17	38343162	C	T	C38343162T	GPR179	NM_001004334.4(GPR179):c.628G>A:p.Gly210Ser	coding	Benign
17	38343192	G	A	G38343192A	GPR179	NM_001004334.4(GPR179):c.598C>T:p.Arg200Ter	coding	Pathogenic
17	38343282	C	G	C38343282G	GPR179	NM_001004334.4(GPR179):c.508G>C:p.Gly170Arg	coding	Benign
17	38707806	A	G	A38707806G	MLLT6	NM_005937.4(MLLT6):c.288A>G:p.Gln96=	coding	Benign
17	38711996	C	T	C38711996T	MLLT6	NM_005937.4(MLLT6):c.702C>T:p.His234=	coding	Benign
17	38878112	C	T	C38878112T	LASP1	NM_006148.4(LASP1):c.96C>T:p.Cys32=	coding	Benign
17	38918616	C	T	C38918616T	LASP1	NM_006148.4(LASP1):c.624C>T:p.Arg208=	coding	Benign
17	39175529	C	T	C39175529T	CACNB1	NM_000723.5(CACNB1):c.1461G>A:p.Arg487=	coding	Benign
17	39175598	G	A	G39175598A	CACNB1	NM_000723.5(CACNB1):c.1392C>T:p.Ser464=	coding	Benign
17	39423369	G	A	G39423369A	MED1	NM_004774.4(MED1):c.1053C>T:p.Asp351=	coding	Benign
17	39606199	A	G	A39606199G	NEUROD2	NM_006160.4(NEUROD2):c.401T>C:p.Met134Thr	coding	Pathogenic
17	39606212	C	G	C39606212G	NEUROD2	NM_006160.4(NEUROD2):c.388G>C:p.Glu130Gln	coding	Pathogenic
17	39606588	G	A	G39606588A	NEUROD2	NM_006160.4(NEUROD2):c.12C>T:p.Arg4=	coding	Benign
17	39635641	A	G	A39635641G	PPP1R1B	NM_032192.4(PPP1R1B):c.480A>G:p.Glu160=	coding	Benign
17	39635843	C	A	C39635843A	PPP1R1B	NM_032192.4(PPP1R1B):c.593C>A:p.Ser198Tyr	coding	Benign
17	39665182	G	T	G39665182T	TCAP	NM_003673.3(TCAP):c.-178G>T	noncoding	Benign
17	39665425	G	A	G39665425A	TCAP	NM_003673.3(TCAP):c.66G>A:p.Trp22Ter	coding	Pathogenic
17	39665447	C	T	C39665447T	TCAP	NM_003673.4(TCAP):c.88C>T:p.Leu30=	coding	Benign
17	39665462	G	T	G39665462T	TCAP	NM_003673.3(TCAP):c.103G>T:p.Glu35Ter	coding	Pathogenic
17	39665517	C	T	C39665517T	TCAP	NM_003673.3(TCAP):c.110+48C>T	noncoding	Benign
17	39665796	C	T	C39665796T	TCAP	NM_003673.4(TCAP):c.191C>T:p.Ser64Leu	coding	Benign
17	39665921	C	T	C39665921T	TCAP	NM_003673.4(TCAP):c.316C>T:p.Arg106Cys	coding	Benign/Likely_benign
17	39666015	C	T	C39666015T	TCAP	NM_003673.3(TCAP):c.410C>T:p.Thr137Ile	coding	Pathogenic
17	39666058	A	C	A39666058C	TCAP	NM_003673.4(TCAP):c.453A>C:p.Ala151=	coding	Benign
17	39666486	G	C	G39666486C	TCAP	NM_003673.3(TCAP):c.*377G>C	noncoding	Benign/Likely_benign
17	39668598	G	A	G39668598A	PNMT	NM_002686.4(PNMT):c.123G>A:p.Ala41=	coding	Benign
17	39670063	G	A	G39670063A	PNMT	NM_002686.4(PNMT):c.523G>A:p.Ala175Thr	coding	Benign
17	39673089	C	A	C39673089A	PGAP3	NM_033419.5(PGAP3):c.861G>T:p.Trp287Cys	coding	Pathogenic
17	39673099	T	C	T39673099C	PGAP3	NM_033419.5(PGAP3):c.851A>G:p.His284Arg	coding	Pathogenic
17	39673100	G	A	G39673100A	PGAP3	NM_033419.5(PGAP3):c.850C>T:p.His284Tyr	coding	Pathogenic/Likely_pathogenic
17	39673105	T	C	T39673105C	PGAP3	NM_033419.5(PGAP3):c.845A>G:p.Asp282Gly	coding	Pathogenic
17	39673108	A	G	A39673108G	PGAP3	NM_033419.5(PGAP3):c.842T>C:p.Leu281Pro	coding	Pathogenic
17	39673143	G	C	G39673143C	PGAP3	NM_033419.5(PGAP3):c.807C>G:p.Leu269=	coding	Benign
17	39673224	C	T	C39673224T	PGAP3	NM_033419.5(PGAP3):c.726G>A:p.Trp242Ter	coding	Pathogenic
17	39673513	C	T	C39673513T	PGAP3	NM_033419.5(PGAP3):c.694+1G>A	noncoding	Pathogenic
17	39673525	T	C	T39673525C	PGAP3	NM_033419.5(PGAP3):c.683A>G:p.Asn228Ser	coding	Benign
17	39674039	A	G	A39674039G	PGAP3	NM_033419.5(PGAP3):c.511T>C:p.Cys171Arg	coding	Pathogenic
17	39674043	G	T	G39674043T	PGAP3	NM_033419.5(PGAP3):c.507C>A:p.Tyr169Ter	coding	Pathogenic/Likely_pathogenic
17	39674647	A	G	A39674647G	PGAP3	NM_033419.5(PGAP3):c.465T>C:p.Val155=	coding	Benign
17	39684596	C	T	C39684596T	PGAP3	NM_033419.5(PGAP3):c.432+1G>A	noncoding	Pathogenic
17	39684607	G	C	G39684607C	PGAP3	NM_033419.5(PGAP3):c.422C>G:p.Ala141Gly	coding	Benign/Likely_benign
17	39684705	G	A	G39684705A	PGAP3	NM_033419.5(PGAP3):c.324C>T:p.Ala108=	coding	Benign
17	39684715	G	C	G39684715C	PGAP3	NM_033419.5(PGAP3):c.314C>G:p.Pro105Arg	coding	Pathogenic
17	39685926	C	T	C39685926T	PGAP3	NM_033419.5(PGAP3):c.275G>A:p.Gly92Asp	coding	Pathogenic
17	39687906	C	A	C39687906A	PGAP3	NM_033419.5(PGAP3):c.109G>T:p.Glu37Ter	coding	Pathogenic
17	39707015	G	A	G39707015A	ERBB2	NM_004448.3(ERBB2):c.99G>A:p.Leu33=	coding	Benign
17	39708440	C	T	C39708440T	ERBB2	NM_004448.3(ERBB2):c.345C>T:p.Ala115=	coding	Benign
17	39708476	C	G	C39708476G	ERBB2	NM_004448.3(ERBB2):c.381C>G:p.Thr127=	coding	Benign
17	39709406	C	T	C39709406T	ERBB2	NM_004448.3(ERBB2):c.528C>T:p.Asn176=	coding	Benign
17	39710488	G	T	G39710488T	ERBB2	NM_004448.3(ERBB2):c.901+7G>T	noncoding	Benign
17	39715752	G	T	G39715752T	ERBB2	NM_004448.3(ERBB2):c.1326G>T:p.Ser442=	coding	Benign
17	39715782	G	T	G39715782T	ERBB2	NM_004448.3(ERBB2):c.1356G>T:p.Trp452Cys	coding	Benign
17	39716356	A	G	A39716356G	ERBB2	NM_004448.3(ERBB2):c.1569A>G:p.Pro523=	coding	Benign
17	39723332	A	G	A39723332G	ERBB2	NM_004448.3(ERBB2):c.1960A>G:p.Ile654Val	coding	Benign
17	39723335	A	G	A39723335G	ERBB2	NM_004448.3(ERBB2):c.1963A>G:p.Ile655Val	coding	Benign
17	39723600	A	G	A39723600G	ERBB2	NM_004448.3(ERBB2):c.2148A>G:p.Lys716=	coding	Benign
17	39724008	G	C	G39724008C	ERBB2	NM_004448.3(ERBB2):c.2305G>C:p.Asp769His	coding	Pathogenic/Likely_pathogenic
17	39724008	G	T	G39724008T	ERBB2	NM_004448.3(ERBB2):c.2305G>T:p.Asp769Tyr	coding	Pathogenic/Likely_pathogenic
17	39724744	G	A	G39724744A	ERBB2	NM_004448.3(ERBB2):c.2326G>A:p.Gly776Ser	coding	Pathogenic/Likely_pathogenic
17	39725079	G	A	G39725079A	ERBB2	NM_004448.3(ERBB2):c.2524G>A:p.Val842Ile	coding	Pathogenic/Likely_pathogenic
17	39725125	A	G	A39725125G	ERBB2	NM_004448.3(ERBB2):c.2570A>G:p.Asn857Ser	coding	Pathogenic/Likely_pathogenic
17	39725161	T	G	T39725161G	ERBB2	NM_004448.3(ERBB2):c.2606T>G:p.Leu869Arg	coding	Pathogenic
17	39725322	C	G	C39725322G	ERBB2	NM_004448.3(ERBB2):c.2650-5C>G	noncoding	Benign
17	39725363	C	T	C39725363T	ERBB2	NM_004448.3(ERBB2):c.2686C>T:p.Arg896Cys	coding	Pathogenic
17	39725721	G	A	G39725721A	ERBB2	NM_004448.3(ERBB2):c.2740G>A:p.Glu914Lys	coding	Pathogenic
17	39726922	C	T	C39726922T	ERBB2	NM_004448.3(ERBB2):c.3078C>T:p.Pro1026=	coding	Benign
17	39727923	C	A	C39727923A	ERBB2	NM_004448.3(ERBB2):c.3647C>A:p.Ala1216Asp	coding	Benign
17	39727981	C	T	C39727981T	ERBB2	NM_004448.3(ERBB2):c.3705C>T:p.Ser1235=	coding	Benign
17	39742894	G	A	G39742894A	GRB7	NM_005310.5(GRB7):c.307-4G>A	noncoding	Benign
17	39743199	C	T	C39743199T	GRB7	NM_005310.5(GRB7):c.483C>T:p.His161=	coding	Benign
17	39744611	C	T	C39744611T	GRB7	NM_005310.5(GRB7):c.860C>T:p.Thr287Met	coding	Benign
17	39745316	C	T	C39745316T	GRB7	NM_005310.5(GRB7):c.1085C>T:p.Pro362Leu	coding	Benign
17	39745724	A	G	A39745724G	GRB7	NM_005310.5(GRB7):c.1210-4A>G	noncoding	Benign
17	39745774	C	A	C39745774A	GRB7	NM_005310.5(GRB7):c.1256C>A:p.Thr419Lys	coding	Benign
17	39766369	G	A	G39766369A	IKZF3	NM_012481.5(IKZF3):c.951C>T:p.Ala317=	coding	Benign
17	39871571	G	A	G39871571A	ZPBP2	NM_199321.3(ZPBP2):c.352G>A:p.Ala118Thr	coding	Benign
17	39872382	T	C	T39872382C	ZPBP2	NM_199321.3(ZPBP2):c.519T>C:p.Ser173=	coding	Benign
17	39917245	G	A	G39917245A	GSDMB	NM_001042471.1(GSDMB):c.72C>T:p.Ala24=	coding	Benign
17	39988814	G	C	G39988814C	PSMD3	NM_002809.4(PSMD3):c.681G>C:p.Val227=	coding	Benign
17	40015818	C	T	C40015818T	CSF3	NM_172219.3(CSF3):c.168C>T:p.Gly56=	coding	Benign
17	40016787	C	G	C40016787G	CSF3	NM_172219.3(CSF3):c.451-8C>G	noncoding	Benign
17	40016804	C	A	C40016804A	CSF3	NM_172219.3(CSF3):c.460C>A:p.Leu154Met	coding	Benign
17	40016848	G	T	G40016848T	CSF3	NM_172219.3(CSF3):c.504G>T:p.Pro168=	coding	Benign
17	40016854	C	T	C40016854T	CSF3	NM_172219.3(CSF3):c.510C>T:p.Phe170=	coding	Benign
17	40016855	G	A	G40016855A	CSF3	NM_172219.3(CSF3):c.511G>A:p.Ala171Thr	coding	Benign
17	40019778	T	C	T40019778C	MED24	NM_014815.4(MED24):c.2853+7A>G	noncoding	Benign
17	40033406	C	T	C40033406T	MED24	NM_014815.4(MED24):c.610G>A:p.Ala204Thr	coding	Benign
17	40077520	G	T	G40077520T	THRA	NM_001190919.1(THRA):c.134G>T:p.Ser45Ile	coding	Pathogenic
17	40083827	C	T	C40083827T	THRA	NM_199334.5(THRA):c.223-8C>T	noncoding	Benign
17	40083830	C	G	C40083830G	THRA	NM_199334.5(THRA):c.223-5C>G	noncoding	Benign
17	40083963	C	T	C40083963T	THRA	NM_003250.6(THRA):c.351C>T:p.Ala117=	coding	Benign
17	40084747	A	G	A40084747G	THRA	NM_199334.5(THRA):c.508A>G:p.Ile170Val	coding	Benign
17	40086850	C	T	C40086850T	THRA	NM_199334.5(THRA):c.720C>T:p.Ser240=	coding	Benign
17	40088256	C	T	C40088256T	THRA	NM_003250.6(THRA):c.738C>T:p.Asp246=	coding	Benign
17	40088388	C	T	C40088388T	THRA	NM_199334.5(THRA):c.870C>T:p.Gly290=	coding	Benign
17	40089333	G	C	G40089333C	THRA	NM_001190919.1(THRA):c.1110G>C:p.Lys370Asn	coding	Pathogenic
17	40089399	C	A	C40089399A	THRA	NM_001190919.1(THRA):c.1110+66C>A	coding	Pathogenic
17	40089416	C	G	C40089416G	THRA	NM_001190919.1(THRA):c.1110+83C>G	coding	Pathogenic
17	40089430	G	A	G40089430A	THRA	NM_001190919.1(THRA):c.1110+97G>A	coding	Pathogenic
17	40095630	G	A	G40095630A	NR1D1	NM_021724.5(NR1D1):c.1062C>T:p.Ala354=	coding	Benign
17	40097216	G	A	G40097216A	NR1D1	NM_021724.5(NR1D1):c.219C>T:p.Pro73=	coding	Benign
17	40289585	C	T	C40289585T	CDC6	NM_001254.4(CDC6):c.165C>T:p.Pro55=	coding	Benign/Likely_benign
17	40291317	T	C	T40291317C	CDC6	NM_001254.4(CDC6):c.438T>C:p.Cys146=	coding	Benign
17	40293996	G	A	G40293996A	CDC6	NM_001254.4(CDC6):c.883G>A:p.Asp295Asn	coding	Benign
17	40294009	C	T	C40294009T	CDC6	NM_001254.4(CDC6):c.896C>T:p.Thr299Met	coding	Benign
17	40294388	C	G	C40294388G	CDC6	NM_001254.4(CDC6):c.968C>G:p.Thr323Arg	coding	Pathogenic
17	40300899	G	A	G40300899A	CDC6	NM_001254.4(CDC6):c.1321G>A:p.Val441Ile	coding	Benign
17	40301527	A	G	A40301527G	CDC6	NM_001254.4(CDC6):c.1512A>G:p.Ser504=	coding	Benign
17	40349934	C	T	C40349934T	RARA	NM_000964.4(RARA):c.469+9C>T	noncoding	Benign
17	40354331	C	T	C40354331T	RARA	NM_000964.4(RARA):c.837C>T:p.Pro279=	coding	Benign
17	40355257	C	T	C40355257T	RARA	NM_000964.4(RARA):c.1013-6C>T	noncoding	Benign
17	40392210	A	G	A40392210G	TOP2A	NM_001067.4(TOP2A):c.4088+8T>C	noncoding	Benign
17	40392277	A	C	A40392277C	TOP2A	NM_001067.4(TOP2A):c.4029T>G:p.Thr1343=	coding	Benign
17	40398615	T	G	T40398615G	TOP2A	NM_001067.4(TOP2A):c.3480A>C:p.Arg1160Ser	coding	Benign
17	40398936	A	G	A40398936G	TOP2A	NM_001067.4(TOP2A):c.3290T>C:p.Val1097Ala	coding	Benign
17	40400281	T	C	T40400281C	TOP2A	NM_001067.4(TOP2A):c.2928A>G:p.Lys976=	coding	Benign
17	40400547	G	A	G40400547A	TOP2A	NM_001067.4(TOP2A):c.2781C>T:p.Pro927=	coding	Benign
17	40406856	C	T	C40406856T	TOP2A	NM_001067.4(TOP2A):c.1713G>A:p.Glu571=	coding	Benign
17	40411142	T	C	T40411142C	TOP2A	NM_001067.4(TOP2A):c.1170A>G:p.Ser390=	coding	Benign
17	40412819	T	C	T40412819C	TOP2A	NM_001067.4(TOP2A):c.729A>G:p.Ala243=	coding	Benign
17	40452992	C	T	C40452992T	IGFBP4	NM_001552.3(IGFBP4):c.357C>T:p.Asp119=	coding	Benign
17	40480702	G	A	G40480702A	TNS4	NM_032865.6(TNS4):c.1739C>T:p.Ala580Val	coding	Benign
17	40487189	C	T	C40487189T	TNS4	NM_032865.6(TNS4):c.1135G>A:p.Gly379Ser	coding	Benign
17	40555417	G	T	G40555417T	CCR7	NM_001838.4(CCR7):c.462C>A:p.Arg154=	coding	Benign
17	40628790	C	A	C40628790A	SMARCE1	NM_003079.5(SMARCE1):c.1231G>T:p.Glu411Ter	coding	Benign/Likely_benign
17	40628920	C	T	C40628920T	SMARCE1	NM_003079.5(SMARCE1):c.1101G>A:p.Lys367=	coding	Benign/Likely_benign
17	40630778	C	T	C40630778T	SMARCE1	NM_003079.5(SMARCE1):c.963G>A:p.Glu321=	coding	Benign/Likely_benign
17	40630787	G	A	G40630787A	SMARCE1	NM_003079.5(SMARCE1):c.954C>T:p.Ile318=	coding	Benign/Likely_benign
17	40630870	G	A	G40630870A	SMARCE1	NM_003079.5(SMARCE1):c.871C>T:p.Gln291Ter	coding	Pathogenic
17	40631651	G	A	G40631651A	SMARCE1	NM_003079.5(SMARCE1):c.757C>T:p.Gln253Ter	coding	Pathogenic
17	40631657	G	A	G40631657A	SMARCE1	NM_003079.5(SMARCE1):c.751C>T:p.Arg251Ter	coding	Pathogenic
17	40636055	G	C	G40636055C	SMARCE1	NM_003079.5(SMARCE1):c.417C>G:p.Tyr139Ter	coding	Pathogenic
17	40636385	C	G	C40636385G	SMARCE1	NM_003079.5(SMARCE1):c.369+10G>C	noncoding	Benign
17	40636413	G	A	G40636413A	SMARCE1	NM_003079.5(SMARCE1):c.351C>T:p.Asn117=	coding	Benign/Likely_benign
17	40636424	C	A	C40636424A	SMARCE1	NM_003079.5(SMARCE1):c.340G>T:p.Glu114Ter	coding	Pathogenic
17	40636451	G	A	G40636451A	SMARCE1	NM_003079.5(SMARCE1):c.313C>T:p.Arg105Ter	coding	Pathogenic
17	40637491	C	A	C40637491A	SMARCE1	NM_003079.5(SMARCE1):c.237+1G>T	noncoding	Pathogenic
17	40637511	T	G	T40637511G	SMARCE1	NM_003079.5(SMARCE1):c.218A>C:p.Tyr73Ser	coding	Pathogenic
17	40698312	A	G	A40698312G	KRT24	NM_019016.3(KRT24):c.1503T>C:p.Thr501=	coding	Benign
17	40699553	A	G	A40699553G	KRT24	NM_019016.3(KRT24):c.1252T>C:p.Trp418Arg	coding	Benign
17	40699561	C	T	C40699561T	KRT24	NM_019016.3(KRT24):c.1244G>A:p.Cys415Tyr	coding	Benign
17	40703142	T	C	T40703142C	KRT24	NM_019016.3(KRT24):c.552A>G:p.Gly184=	coding	Benign
17	40703351	C	T	C40703351T	KRT24	NM_019016.3(KRT24):c.343G>A:p.Ala115Thr	coding	Benign
17	40703412	G	A	G40703412A	KRT24	NM_019016.3(KRT24):c.282C>T:p.Gly94=	coding	Benign
17	40750466	C	T	C40750466T	KRT25	NM_181534.4(KRT25):c.1089G>A:p.Lys363=	coding	Benign
17	40750961	A	G	A40750961G	KRT25	NM_181534.4(KRT25):c.950T>C:p.Leu317Pro	coding	Pathogenic
17	40751280	T	G	T40751280G	KRT25	NM_181534.4(KRT25):c.716A>C:p.Glu239Ala	coding	Benign
17	40751284	C	A	C40751284A	KRT25	NM_181534.4(KRT25):c.712G>T:p.Val238Leu	coding	Pathogenic
17	40754460	T	G	T40754460G	KRT25	NM_181534.4(KRT25):c.438A>C:p.Ala146=	coding	Benign
17	40755029	C	T	C40755029T	KRT25	NM_181534.4(KRT25):c.243G>A:p.Val81=	coding	Benign
17	40819163	T	C	T40819163C	KRT10	NM_000421.4(KRT10):c.1374-2A>G	coding	Pathogenic
17	40819163	T	G	T40819163G	KRT10	NM_000421.4(KRT10):c.1374-2A>C	coding	Pathogenic
17	40819515	A	G	A40819515G	KRT10	NM_000421.4(KRT10):c.1373+2T>C	noncoding	Pathogenic
17	40819516	C	T	C40819516T	KRT10	NM_000421.4(KRT10):c.1373+1G>A	noncoding	Pathogenic
17	40819565	A	T	A40819565T	KRT10	NM_000421.4(KRT10):c.1325T>A:p.Leu442Gln	coding	Pathogenic
17	40819575	T	C	T40819575C	KRT10	NM_000421.4(KRT10):c.1315A>G:p.Lys439Glu	coding	Pathogenic
17	40819590	G	A	G40819590A	KRT10	NM_000421.4(KRT10):c.1300C>T:p.Gln434Ter	coding	Pathogenic
17	40819609	G	T	G40819609T	KRT10	NM_000421.4(KRT10):c.1281C>A:p.Cys427Ter	coding	Pathogenic
17	40820044	C	T	C40820044T	KRT10	NM_000421.4(KRT10):c.1155+5G>A	noncoding	Pathogenic
17	40822104	A	G	A40822104G	KRT10	NM_000421.4(KRT10):c.482T>C:p.Leu161Ser	coding	Pathogenic
17	40822108	A	C	A40822108C	KRT10	NM_000421.4(KRT10):c.478T>G:p.Tyr160Asp	coding	Pathogenic
17	40822114	C	G	C40822114G	KRT10	NM_000421.4(KRT10):c.472G>C:p.Ala158Pro	coding	Pathogenic
17	40822119	C	T	C40822119T	KRT10	NM_000421.4(KRT10):c.467G>A:p.Arg156His	coding	Pathogenic
17	40822120	G	A	G40822120A	KRT10	NM_000421.4(KRT10):c.466C>T:p.Arg156Cys	coding	Pathogenic
17	40822126	T	G	T40822126G	KRT10	NM_000421.4(KRT10):c.460A>C:p.Asn154His	coding	Pathogenic
17	40822137	A	C	A40822137C	KRT10	NM_000421.4(KRT10):c.449T>G:p.Met150Arg	coding	Pathogenic
17	40822137	A	G	A40822137G	KRT10	NM_000421.4(KRT10):c.449T>C:p.Met150Thr	coding	Pathogenic
17	40863154	A	C	A40863154C	KRT12	NM_000223.4(KRT12):c.1285T>G:p.Tyr429Asp	coding	Pathogenic
17	40864865	C	G	C40864865G	KRT12	NM_000223.4(KRT12):c.748G>C:p.Glu250Gln	coding	Benign
17	40864872	G	A	G40864872A	KRT12	NM_000223.4(KRT12):c.741C>T:p.Thr247=	coding	Benign
17	40864949	G	A	G40864949A	KRT12	NM_000223.4(KRT12):c.664C>T:p.Leu222=	coding	Benign
17	40866760	C	G	C40866760G	KRT12	NM_000223.4(KRT12):c.427G>C:p.Val143Leu	coding	Pathogenic
17	40866768	A	C	A40866768C	KRT12	NM_000223.4(KRT12):c.419T>G:p.Leu140Arg	coding	Pathogenic
17	40866783	C	A	C40866783A	KRT12	NM_000223.4(KRT12):c.404G>T:p.Arg135Ile	coding	Pathogenic
17	40866783	C	G	C40866783G	KRT12	NM_000223.4(KRT12):c.404G>C:p.Arg135Thr	coding	Pathogenic
17	40866784	T	C	T40866784C	KRT12	NM_000223.4(KRT12):c.403A>G:p.Arg135Gly	coding	Pathogenic
17	40866792	A	G	A40866792G	KRT12	NM_000223.4(KRT12):c.395T>C:p.Leu132Pro	coding	Pathogenic
17	40866801	A	G	A40866801G	KRT12	NM_000223.4(KRT12):c.386T>C:p.Met129Thr	coding	Pathogenic
17	40878150	G	A	G40878150A	KRT20	NM_019010.3(KRT20):c.1134C>T:p.Asp378=	coding	Benign
17	40878290	A	G	A40878290G	KRT20	NM_019010.3(KRT20):c.994T>C:p.Leu332=	coding	Benign
17	40885015	G	T	G40885015T	KRT20	NM_019010.3(KRT20):c.171C>A:p.Ser57Arg	coding	Benign
17	40925478	G	A	G40925478A	KRT23	NM_015515.5(KRT23):c.1018C>T:p.Leu340=	coding	Benign
17	41097583	C	T	C41097583T	KRTAP4-8	NM_031960.3(KRTAP4-8):c.502G>A:p.Ala168Thr	coding	Benign
17	41395281	G	A	G41395281A	KRT31	NM_002277.3(KRT31):c.840C>T:p.Asn280=	coding	Benign
17	41489488	T	C	T41489488C	KRT36	NM_003771.4(KRT36):c.377A>G:p.Gln126Arg	coding	Benign
17	41489509	G	A	G41489509A	KRT36	NM_003771.4(KRT36):c.356C>T:p.Ala119Val	coding	Benign
17	41500982	A	G	A41500982G	KRT13	NM_153490.3(KRT13):c.*274T>C	noncoding	Benign
17	41500988	G	A	G41500988A	KRT13	NM_153490.3(KRT13):c.*268C>T	noncoding	Benign
17	41501085	C	A	C41501085A	KRT13	NM_153490.3(KRT13):c.*171G>T	noncoding	Benign
17	41501086	G	A	G41501086A	KRT13	NM_153490.3(KRT13):c.*170C>T	noncoding	Benign
17	41501267	G	A	G41501267A	KRT13	NM_153490.3(KRT13):c.1366C>T:p.Arg456Cys	coding	Benign
17	41501281	C	T	C41501281T	KRT13	NM_153490.3(KRT13):c.1352G>A:p.Arg451His	coding	Benign
17	41501347	C	T	C41501347T	KRT13	NM_153490.3(KRT13):c.1286G>A:p.Arg429His	coding	Benign
17	41501357	C	T	C41501357T	KRT13	NM_153490.3(KRT13):c.1276G>A:p.Val426Ile	coding	Benign
17	41502391	G	A	G41502391A	KRT13	NM_153490.3(KRT13):c.1227C>T:p.Leu409=	coding	Benign
17	41502401	C	A	C41502401A	KRT13	NM_153490.3(KRT13):c.1217G>T:p.Arg406Leu	coding	Benign
17	41502485	C	T	C41502485T	KRT13	NM_153490.3(KRT13):c.1133G>A:p.Arg378His	coding	Benign
17	41502590	G	A	G41502590A	KRT13	NM_153490.3(KRT13):c.1028C>T:p.Ala343Val	coding	Benign
17	41502701	A	G	A41502701G	KRT13	NM_153490.3(KRT13):c.1009T>C:p.Ser337Pro	coding	Benign
17	41502763	G	A	G41502763A	KRT13	NM_153490.3(KRT13):c.947C>T:p.Thr316Ile	coding	Benign
17	41502931	G	A	G41502931A	KRT13	NM_153490.3(KRT13):c.897+6C>T	noncoding	Benign
17	41502965	C	T	C41502965T	KRT13	NM_153490.3(KRT13):c.869G>A:p.Arg290Gln	coding	Benign
17	41503019	C	T	C41503019T	KRT13	NM_153490.3(KRT13):c.815G>A:p.Arg272His	coding	Benign
17	41503067	C	T	C41503067T	KRT13	NM_153490.3(KRT13):c.767G>A:p.Gly256Asp	coding	Benign
17	41503068	C	T	C41503068T	KRT13	NM_153490.3(KRT13):c.766G>A:p.Gly256Ser	coding	Benign
17	41503069	G	A	G41503069A	KRT13	NM_153490.3(KRT13):c.765C>T:p.Val255=	coding	Benign
17	41503105	G	C	G41503105C	KRT13	NM_153490.3(KRT13):c.736-7C>G	noncoding	Benign
17	41503277	T	C	T41503277C	KRT13	NM_153490.3(KRT13):c.735+10A>G	noncoding	Benign
17	41503281	G	A	G41503281A	KRT13	NM_153490.3(KRT13):c.735+6C>T	noncoding	Benign
17	41503385	G	A	G41503385A	KRT13	NM_153490.3(KRT13):c.637C>T:p.Arg213Trp	coding	Benign
17	41503661	G	A	G41503661A	KRT13	NM_153490.3(KRT13):c.560C>T:p.Ala187Val	coding	Benign
17	41503712	G	C	G41503712C	KRT13	NM_153490.3(KRT13):c.509C>G:p.Thr170Ser	coding	Benign
17	41505102	C	T	C41505102T	KRT13	NM_153490.3(KRT13):c.449G>A:p.Arg150Gln	coding	Benign
17	41505114	G	C	G41505114C	KRT13	NM_153490.3(KRT13):c.437C>G:p.Ala146Gly	coding	Benign
17	41505131	G	A	G41505131A	KRT13	NM_153490.3(KRT13):c.420C>T:p.His140=	coding	Benign
17	41505142	G	A	G41505142A	KRT13	NM_153490.3(KRT13):c.409C>T:p.Arg137Cys	coding	Benign
17	41505167	G	A	G41505167A	KRT13	NM_153490.3(KRT13):c.384C>T:p.Ala128=	coding	Benign
17	41505195	A	G	A41505195G	KRT13	NM_153490.3(KRT13):c.356T>C:p.Leu119Pro	coding	Pathogenic
17	41505219	A	G	A41505219G	KRT13	NM_153490.3(KRT13):c.332T>C:p.Leu111Pro	coding	Pathogenic
17	41505347	G	T	G41505347T	KRT13	NM_153490.3(KRT13):c.204C>A:p.Gly68=	coding	Benign
17	41505352	C	T	C41505352T	KRT13	NM_153490.3(KRT13):c.199G>A:p.Gly67Ser	coding	Benign
17	41505374	A	G	A41505374G	KRT13	NM_153490.3(KRT13):c.177T>C:p.Ser59=	coding	Benign
17	41518733	C	T	C41518733T	KRT15	NM_002275.4(KRT15):c.95G>A:p.Gly32Glu	coding	Benign
17	41521447	T	C	T41521447C	KRT15	NC_000017.11:g.41521447T>C	noncoding	Benign
17	41525229	G	A	G41525229A	KRT19	NM_002276.5(KRT19):c.465C>T:p.Ile155=	coding	Benign
17	41528017	C	A	C41528017A	KRT19	NM_002276.5(KRT19):c.231G>T:p.Ala77=	coding	Benign
17	41528158	G	A	G41528158A	KRT19	NM_002276.5(KRT19):c.90C>T:p.Ala30=	coding	Benign
17	41535537	G	A	G41535537A	-	NC_000017.11:g.41535537G>A	noncoding	Benign
17	41539026	C	T	C41539026T	-	NC_000017.11:g.41539026C>T	noncoding	Benign
17	41567471	A	C	A41567471C	KRT9	NM_000226.4(KRT9):c.1674T>G:p.Tyr558Ter	coding	Pathogenic
17	41567558	A	G	A41567558G	KRT9	NM_000226.4(KRT9):c.1587T>C:p.Gly529=	coding	Benign/Likely_benign
17	41567738	T	A	T41567738A	KRT9	NM_000226.4(KRT9):c.1407A>T:p.Gly469=	coding	Benign
17	41568500	C	A	C41568500A	KRT9	NM_000226.4(KRT9):c.1170+8G>T	noncoding	Benign/Likely_benign
17	41568642	C	T	C41568642T	KRT9	NM_000226.4(KRT9):c.1045-9G>A	noncoding	Benign/Likely_benign
17	41570024	C	A	C41570024A	KRT9	NM_000226.4(KRT9):c.726-9G>T	noncoding	Benign
17	41571453	G	T	G41571453T	KRT9	NM_000226.4(KRT9):c.540C>A:p.Asp180Glu	coding	Benign/Likely_benign
17	41571478	T	G	T41571478G	KRT9	NM_000226.4(KRT9):c.515A>C:p.Gln172Pro	coding	Pathogenic
17	41571482	C	T	C41571482T	KRT9	NM_000226.4(KRT9):c.511G>A:p.Val171Met	coding	Pathogenic
17	41571490	A	G	A41571490G	KRT9	NM_000226.4(KRT9):c.503T>C:p.Leu168Ser	coding	Pathogenic
17	41571506	G	A	G41571506A	KRT9	NM_000226.4(KRT9):c.487C>T:p.Arg163Trp	coding	Pathogenic/Likely_pathogenic
17	41571510	A	T	A41571510T	KRT9	NM_000226.4(KRT9):c.483T>A:p.Asn161Lys	coding	Pathogenic
17	41571511	T	A	T41571511A	KRT9	NM_000226.4(KRT9):c.482A>T:p.Asn161Ile	coding	Pathogenic
17	41571511	T	C	T41571511C	KRT9	NM_000226.4(KRT9):c.482A>G:p.Asn161Ser	coding	Pathogenic
17	41571512	T	A	T41571512A	KRT9	NM_000226.4(KRT9):c.481A>T:p.Asn161Tyr	coding	Pathogenic
17	41571515	G	A	G41571515A	KRT9	NM_000226.4(KRT9):c.478C>T:p.Leu160Phe	coding	Pathogenic
17	41571515	G	C	G41571515C	KRT9	NM_000226.4(KRT9):c.478C>G:p.Leu160Val	coding	Pathogenic
17	41571523	A	G	A41571523G	KRT9	NM_000226.4(KRT9):c.470T>C:p.Met157Thr	coding	Pathogenic
17	41571524	T	C	T41571524C	KRT9	NM_000226.4(KRT9):c.469A>G:p.Met157Val	coding	Pathogenic
17	41571564	T	G	T41571564G	KRT9	NM_000226.4(KRT9):c.429A>C:p.Gly143=	coding	Benign
17	41571642	A	G	A41571642G	KRT9	NM_000226.4(KRT9):c.351T>C:p.Gly117=	coding	Benign/Likely_benign
17	41571771	G	A	G41571771A	KRT9	NM_000226.4(KRT9):c.222C>T:p.Gly74=	coding	Benign/Likely_benign
17	41571798	G	A	G41571798A	KRT9	NM_000226.4(KRT9):c.195C>T:p.Gly65=	coding	Benign
17	41571951	G	A	G41571951A	KRT9	NM_000226.4(KRT9):c.42C>T:p.Ser14=	coding	Benign
17	41582545	T	C	T41582545C	KRT14	NM_000526.5(KRT14):c.1322-13A>G	noncoding	Benign
17	41583245	C	T	C41583245T	KRT14	NM_000526.5(KRT14):c.1264G>A:p.Glu422Lys	coding	Pathogenic
17	41583253	A	T	A41583253T	KRT14	NM_000526.5(KRT14):c.1256T>A:p.Leu419Gln	coding	Pathogenic
17	41583266	A	G	A41583266G	KRT14	NM_000526.5(KRT14):c.1243T>C:p.Tyr415His	coding	Pathogenic
17	41583278	C	T	C41583278T	KRT14	NM_000526.5(KRT14):c.1231G>A:p.Glu411Lys	coding	Pathogenic
17	41583281	G	A	G41583281A	KRT14	NM_000526.5(KRT14):c.1228C>T:p.Gln410Ter	coding	Pathogenic
17	41583290	G	T	G41583290T	KRT14	NM_000526.5(KRT14):c.1219C>A:p.Arg407=	coding	Benign
17	41583346	C	T	C41583346T	KRT14	NM_000526.5(KRT14):c.1163G>A:p.Arg388His	coding	Pathogenic
17	41583347	G	A	G41583347A	KRT14	NM_000526.5(KRT14):c.1162C>T:p.Arg388Cys	coding	Pathogenic
17	41583358	A	G	A41583358G	KRT14	NM_000526.5(KRT14):c.1151T>C:p.Leu384Pro	coding	Pathogenic
17	41583772	C	T	C41583772T	KRT14	NM_000526.5(KRT14):c.915G>A:p.Trp305Ter	coding	Pathogenic
17	41583872	A	C	A41583872C	KRT14	NM_000526.5(KRT14):c.815T>G:p.Met272Arg	coding	Pathogenic
17	41583872	A	G	A41583872G	KRT14	NM_000526.5(KRT14):c.815T>C:p.Met272Thr	coding	Pathogenic
17	41584283	C	T	C41584283T	KRT14	NM_000526.5(KRT14):c.739G>A:p.Ala247Thr	coding	Benign
17	41584374	G	C	G41584374C	KRT14	NM_000526.5(KRT14):c.648C>G:p.Ala216=	coding	Benign
17	41584410	A	T	A41584410T	KRT14	NM_000526.5(KRT14):c.612T>A:p.Tyr204Ter	coding	Pathogenic
17	41584995	G	A	G41584995A	KRT14	NM_000526.5(KRT14):c.588C>T:p.Ala196=	coding	Benign
17	41585059	T	G	T41585059G	KRT14	NM_000526.5(KRT14):c.526-2A>C	noncoding	Pathogenic
17	41586404	T	G	T41586404G	KRT14	NM_000526.5(KRT14):c.431A>C:p.Glu144Ala	coding	Pathogenic
17	41586438	C	A	C41586438A	KRT14	NM_000526.5(KRT14):c.397G>T:p.Val133Leu	coding	Pathogenic
17	41586438	C	T	C41586438T	KRT14	NM_000526.5(KRT14):c.397G>A:p.Val133Met	coding	Pathogenic
17	41586461	C	T	C41586461T	KRT14	NM_000526.5(KRT14):c.374G>A:p.Arg125His	coding	Pathogenic
17	41586462	G	A	G41586462A	KRT14	NM_000526.5(KRT14):c.373C>T:p.Arg125Cys	coding	Pathogenic
17	41586466	A	G	A41586466G	KRT14	NM_000526.5(KRT14):c.369T>C:p.Asn123=	coding	Benign
17	41586467	T	C	T41586467C	KRT14	NM_000526.5(KRT14):c.368A>G:p.Asn123Ser	coding	Pathogenic
17	41586478	C	T	C41586478T	KRT14	NM_000526.5(KRT14):c.357G>A:p.Met119Ile	coding	Pathogenic
17	41586479	A	G	A41586479G	KRT14	NM_000526.5(KRT14):c.356T>C:p.Met119Thr	coding	Pathogenic
17	41586555	C	T	C41586555T	KRT14	NM_000526.5(KRT14):c.280G>A:p.Ala94Thr	coding	Benign
17	41586604	G	A	G41586604A	KRT14	NM_000526.5(KRT14):c.231C>T:p.Ser77=	coding	Benign
17	41586633	C	T	C41586633T	KRT14	NM_000526.5(KRT14):c.202G>A:p.Gly68Ser	coding	Benign/Likely_benign
17	41586642	G	A	G41586642A	KRT14	NM_000526.5(KRT14):c.193C>T:p.Leu65=	coding	Benign
17	41586646	G	A	G41586646A	KRT14	NM_000526.5(KRT14):c.189C>T:p.Cys63=	coding	Benign
17	41586669	G	A	G41586669A	KRT14	NM_000526.5(KRT14):c.166C>T:p.Arg56Cys	coding	Benign
17	41586781	G	A	G41586781A	KRT14	NM_000526.5(KRT14):c.54C>T:p.Cys18=	coding	Benign
17	41586781	G	T	G41586781T	KRT14	NM_000526.5(KRT14):c.54C>A:p.Cys18Ter	coding	Pathogenic
17	41586816	G	A	G41586816A	KRT14	NM_000526.5(KRT14):c.19C>T:p.Gln7Ter	coding	Pathogenic
17	41586829	G	A	G41586829A	KRT14	NM_000526.5(KRT14):c.6C>T:p.Thr2=	coding	Benign
17	41610359	G	A	G41610359A	KRT16	NM_005557.4(KRT16):c.1252C>T:p.Arg418Cys	coding	Benign
17	41610443	G	A	G41610443A	KRT16	NM_005557.4(KRT16):c.1168C>T:p.Arg390Cys	coding	Benign
17	41611075	C	T	C41611075T	KRT16	NM_005557.4(KRT16):c.927G>A:p.Leu309=	coding	Benign
17	41611086	T	C	T41611086C	KRT16	NM_005557.4(KRT16):c.916A>G:p.Thr306Ala	coding	Benign
17	41611342	T	C	T41611342C	KRT16	NM_005557.4(KRT16):c.771+3A>G	noncoding	Benign
17	41611472	G	C	G41611472C	KRT16	NM_005557.4(KRT16):c.644C>G:p.Thr215Ser	coding	Benign
17	41611479	G	A	G41611479A	KRT16	NM_005557.4(KRT16):c.637C>T:p.Arg213Trp	coding	Benign
17	41611657	G	A	G41611657A	KRT16	NM_005557.4(KRT16):c.596C>T:p.Ala199Val	coding	Benign
17	41611665	C	T	C41611665T	KRT16	NM_005557.4(KRT16):c.588G>A:p.Arg196=	coding	Benign
17	41611695	C	T	C41611695T	KRT16	NM_005557.4(KRT16):c.558G>A:p.Ala186=	coding	Benign
17	41612294	A	G	A41612294G	KRT16	NM_005557.4(KRT16):c.395T>C:p.Leu132Pro	coding	Pathogenic
17	41612306	A	G	A41612306G	KRT16	NM_005557.4(KRT16):c.383T>C:p.Leu128Pro	coding	Pathogenic
17	41612306	A	T	A41612306T	KRT16	NM_005557.4(KRT16):c.383T>A:p.Leu128Gln	coding	Pathogenic
17	41612309	C	G	C41612309G	KRT16	NM_005557.4(KRT16):c.380G>C:p.Arg127Pro	coding	Pathogenic
17	41612310	G	A	G41612310A	KRT16	NM_005557.4(KRT16):c.379C>T:p.Arg127Cys	coding	Pathogenic
17	41612310	G	C	G41612310C	KRT16	NM_005557.4(KRT16):c.379C>G:p.Arg127Gly	coding	Pathogenic
17	41612315	T	C	T41612315C	KRT16	NM_005557.4(KRT16):c.374A>G:p.Asn125Ser	coding	Pathogenic
17	41612316	T	C	T41612316C	KRT16	NM_005557.4(KRT16):c.373A>G:p.Asn125Asp	coding	Pathogenic
17	41612318	A	C	A41612318C	KRT16	NM_005557.4(KRT16):c.371T>G:p.Leu124Arg	coding	Pathogenic
17	41612318	A	T	A41612318T	KRT16	NM_005557.4(KRT16):c.371T>A:p.Leu124His	coding	Pathogenic
17	41612324	T	G	T41612324G	KRT16	NM_005557.4(KRT16):c.365A>C:p.Gln122Pro	coding	Pathogenic
17	41612327	A	C	A41612327C	KRT16	NM_005557.4(KRT16):c.362T>G:p.Met121Arg	coding	Pathogenic
17	41612327	A	G	A41612327G	KRT16	NM_005557.4(KRT16):c.362T>C:p.Met121Thr	coding	Pathogenic
17	41612443	G	A	G41612443A	KRT16	NM_005557.4(KRT16):c.246C>T:p.Phe82=	coding	Benign
17	41612477	C	G	C41612477G	KRT16	NM_005557.4(KRT16):c.212G>C:p.Gly71Ala	coding	Benign
17	41612482	G	A	G41612482A	KRT16	NM_005557.4(KRT16):c.207C>T:p.Gly69=	coding	Benign
17	41612490	C	T	C41612490T	KRT16	NM_005557.4(KRT16):c.199G>A:p.Gly67Ser	coding	Benign
17	41612554	G	A	G41612554A	KRT16	NM_005557.4(KRT16):c.135C>T:p.Thr45=	coding	Benign
17	41612622	C	T	C41612622T	KRT16	NM_005557.4(KRT16):c.67G>A:p.Gly23Ser	coding	Benign
17	41620961	C	T	C41620961T	KRT17	NM_000422.3(KRT17):c.960+5G>A	noncoding	Pathogenic
17	41621023	C	T	C41621023T	KRT17	NM_000422.3(KRT17):c.903G>A:p.Ser301=	coding	Benign
17	41621588	C	T	C41621588T	KRT17	NM_000422.3(KRT17):c.834+5G>A	noncoding	Benign
17	41621665	G	A	G41621665A	KRT17	NM_000422.3(KRT17):c.762C>T:p.Asn254=	coding	Benign
17	41622360	C	T	C41622360T	KRT17	NM_000422.3(KRT17):c.667G>A:p.Glu223Lys	coding	Benign
17	41622361	G	A	G41622361A	KRT17	NM_000422.3(KRT17):c.666C>T:p.His222=	coding	Benign
17	41622421	G	A	G41622421A	KRT17	NM_000422.3(KRT17):c.606C>T:p.Ala202=	coding	Benign
17	41622957	G	A	G41622957A	KRT17	NM_000422.3(KRT17):c.508C>T:p.Arg170Cys	coding	Benign
17	41624191	C	T	C41624191T	KRT17	NM_000422.3(KRT17):c.319G>A:p.Glu107Lys	coding	Benign
17	41624206	C	T	C41624206T	KRT17	NM_000422.3(KRT17):c.304G>A:p.Val102Met	coding	Pathogenic
17	41624214	A	G	A41624214G	KRT17	NM_000422.3(KRT17):c.296T>C:p.Leu99Pro	coding	Pathogenic
17	41624218	A	C	A41624218C	KRT17	NM_000422.3(KRT17):c.292T>G:p.Tyr98Asp	coding	Pathogenic
17	41624226	A	G	A41624226G	KRT17	NM_000422.3(KRT17):c.284T>C:p.Leu95Pro	coding	Pathogenic
17	41624226	A	T	A41624226T	KRT17	NM_000422.3(KRT17):c.284T>A:p.Leu95Gln	coding	Pathogenic
17	41624229	C	G	C41624229G	KRT17	NM_000422.3(KRT17):c.281G>C:p.Arg94Pro	coding	Pathogenic
17	41624229	C	T	C41624229T	KRT17	NM_000422.3(KRT17):c.281G>A:p.Arg94His	coding	Pathogenic
17	41624230	G	A	G41624230A	KRT17	NM_000422.3(KRT17):c.280C>T:p.Arg94Cys	coding	Pathogenic
17	41624235	T	C	T41624235C	KRT17	NM_000422.3(KRT17):c.275A>G:p.Asn92Ser	coding	Pathogenic/Likely_pathogenic
17	41624236	T	C	T41624236C	KRT17	NM_000422.3(KRT17):c.274A>G:p.Asn92Asp	coding	Pathogenic
17	41624236	T	G	T41624236G	KRT17	NM_000422.3(KRT17):c.274A>C:p.Asn92His	coding	Pathogenic
17	41624247	A	G	A41624247G	KRT17	NM_000422.3(KRT17):c.263T>C:p.Met88Thr	coding	Pathogenic
17	41624411	G	A	G41624411A	KRT17	NM_000422.3(KRT17):c.99C>T:p.Gly33=	coding	Benign
17	41624462	G	C	G41624462C	KRT17	NM_000422.3(KRT17):c.48C>G:p.Gly16=	coding	Benign
17	41624515	C	G	C41624515G	KRT17	NM_000422.3(KRT17):c.-6G>C	noncoding	Benign
17	41715552	A	G	A41715552G	GAST	NM_000805.5(GAST):c.116A>G:p.Asn39Ser	coding	Benign
17	41724751	C	T	C41724751T	HAP1	NM_177977.3(HAP1):c.1810G>A:p.Gly604Arg	coding	Benign
17	41725075	T	C	T41725075C	HAP1	NM_177977.3(HAP1):c.1486A>G:p.Ile496Val	coding	Benign
17	41728295	A	G	A41728295G	HAP1	NM_177977.3(HAP1):c.1106T>C:p.Val369Ala	coding	Benign
17	41731518	G	A	G41731518A	HAP1	NM_177977.3(HAP1):c.1044C>T:p.Leu348=	coding	Benign
17	41734561	C	T	C41734561T	HAP1	NM_177977.3(HAP1):c.74G>A:p.Cys25Tyr	coding	Benign
17	41755075	G	A	G41755075A	JUP	NM_002230.4(JUP):c.*669C>T	noncoding	Benign/Likely_benign
17	41755519	A	G	A41755519G	JUP	NM_002230.4(JUP):c.*225T>C	noncoding	Benign
17	41755741	C	T	C41755741T	JUP	NM_002230.4(JUP):c.*3G>A	noncoding	Benign
17	41755843	C	T	C41755843T	JUP	NM_002230.4(JUP):c.2139G>A:p.Pro713=	coding	Benign/Likely_benign
17	41755893	T	A	T41755893A	JUP	NM_002230.4(JUP):c.2089A>T:p.Met697Leu	coding	Benign
17	41756202	T	C	T41756202C	JUP	NM_002230.4(JUP):c.2059A>G:p.Ile687Val	coding	Benign/Likely_benign
17	41756329	A	G	A41756329G	JUP	NM_002230.4(JUP):c.2047-115T>C	noncoding	Benign
17	41757225	A	G	A41757225G	JUP	NM_002230.4(JUP):c.2046+190T>C	noncoding	Benign
17	41757235	G	A	G41757235A	JUP	NM_002230.4(JUP):c.2046+180C>T	noncoding	Benign
17	41757246	A	G	A41757246G	JUP	NM_002230.4(JUP):c.2046+169T>C	noncoding	Benign
17	41757393	T	C	T41757393C	JUP	NM_002230.4(JUP):c.2046+22A>G	noncoding	Benign
17	41757436	A	G	A41757436G	JUP	NM_002230.4(JUP):c.2025T>C:p.His675=	coding	Benign/Likely_benign
17	41757797	G	A	G41757797A	JUP	NM_002230.4(JUP):c.1774-13C>T	noncoding	Benign/Likely_benign
17	41757818	G	T	G41757818T	JUP	NM_002230.4(JUP):c.1774-34C>A	noncoding	Benign
17	41758462	G	A	G41758462A	JUP	NM_002230.4(JUP):c.1710C>T:p.Leu570=	coding	Benign/Likely_benign
17	41758705	G	T	G41758705T	JUP	NM_002230.4(JUP):c.1653+10C>A	noncoding	Benign
17	41758753	G	A	G41758753A	JUP	NM_002230.4(JUP):c.1615C>T:p.Gln539Ter	coding	Pathogenic
17	41763115	G	A	G41763115A	JUP	NM_002230.4(JUP):c.1365C>T:p.Ala455=	coding	Benign/Likely_benign
17	41763199	C	T	C41763199T	JUP	NM_002230.4(JUP):c.1281G>A:p.Thr427=	coding	Benign/Likely_benign
17	41763256	G	A	G41763256A	JUP	NM_002230.4(JUP):c.1224C>T:p.Leu408=	coding	Benign/Likely_benign
17	41763334	G	T	G41763334T	JUP	NM_002230.4(JUP):c.1159-13C>A	noncoding	Benign/Likely_benign
17	41765228	G	A	G41765228A	JUP	NM_002230.4(JUP):c.910-161C>T	noncoding	Benign
17	41767330	A	G	A41767330G	JUP	NM_002230.4(JUP):c.909+49T>C	noncoding	Benign
17	41767362	A	G	A41767362G	JUP	NM_002230.4(JUP):c.909+17T>C	noncoding	Benign
17	41767421	G	A	G41767421A	JUP	NM_002230.4(JUP):c.867C>T:p.Thr289=	coding	Benign/Likely_benign
17	41767494	C	T	C41767494T	JUP	NM_002230.4(JUP):c.794G>A:p.Arg265His	coding	Pathogenic
17	41768679	G	A	G41768679A	JUP	NM_002230.4(JUP):c.707+290C>T	noncoding	Benign
17	41769043	G	A	G41769043A	JUP	NM_002230.4(JUP):c.633C>T:p.Asn211=	coding	Benign/Likely_benign
17	41769109	G	A	G41769109A	JUP	NM_002230.4(JUP):c.567C>T:p.Val189=	coding	Benign/Likely_benign
17	41769131	G	T	G41769131T	JUP	NM_002230.4(JUP):c.545C>A:p.Ser182Ter	coding	Pathogenic
17	41769149	C	T	C41769149T	JUP	NM_002230.4(JUP):c.527G>A:p.Arg176Gln	coding	Benign
17	41769154	C	T	C41769154T	JUP	NM_002230.4(JUP):c.522G>A:p.Ala174=	coding	Benign
17	41769166	C	T	C41769166T	JUP	NM_002230.4(JUP):c.510G>A:p.Ser170=	coding	Benign/Likely_benign
17	41769255	G	A	G41769255A	JUP	NM_002230.4(JUP):c.469-48C>T	noncoding	Benign
17	41769460	G	A	G41769460A	JUP	NM_002230.4(JUP):c.426C>T:p.Arg142=	coding	Benign
17	41769461	C	T	C41769461T	JUP	NM_002230.4(JUP):c.425G>A:p.Arg142His	coding	Benign/Likely_benign
17	41769481	G	A	G41769481A	JUP	NM_002230.4(JUP):c.405C>T:p.Asp135=	coding	Benign/Likely_benign
17	41769511	C	T	C41769511T	JUP	NM_002230.4(JUP):c.375G>A:p.Ser125=	coding	Benign
17	41769673	A	G	A41769673G	JUP	NM_002230.4(JUP):c.213T>C:p.Asp71=	coding	Benign
17	41771784	G	T	G41771784T	JUP	NM_002230.4(JUP):c.71C>A:p.Ser24Ter	coding	Pathogenic
17	41772086	G	A	G41772086A	JUP	NM_002230.4(JUP):c.-8-224C>T	noncoding	Benign
17	41786584	G	C	G41786584C	JUP	NM_002230.4(JUP):c.-9+4C>G	noncoding	Benign
17	41786667	T	C	T41786667C	JUP	NM_002230.4(JUP):c.-88A>G	noncoding	Benign
17	41813133	C	A	C41813133A	FKBP10	NM_021939.4(FKBP10):c.99C>A:p.Arg33=	coding	Benign
17	41813297	C	T	C41813297T	FKBP10	NM_021939.3(FKBP10):c.245+18C>T	noncoding	Benign
17	41816813	A	G	A41816813G	FKBP10	NM_021939.3(FKBP10):c.246-245A>G	noncoding	Benign
17	41817149	G	A	G41817149A	FKBP10	NM_021939.3(FKBP10):c.337G>A:p.Glu113Lys	coding	Pathogenic
17	41817156	G	A	G41817156A	FKBP10	NM_021939.3(FKBP10):c.344G>A:p.Arg115Gln	coding	Pathogenic
17	41817175	C	T	C41817175T	FKBP10	NM_021939.4(FKBP10):c.363C>T:p.Pro121=	coding	Benign
17	41817204	G	A	G41817204A	FKBP10	NM_021939.4(FKBP10):c.391+1G>A	coding	Pathogenic
17	41818087	A	G	A41818087G	FKBP10	NM_021939.3(FKBP10):c.392-2A>G	noncoding	Pathogenic
17	41818189	G	A	G41818189A	FKBP10	NM_021939.4(FKBP10):c.492G>A:p.Pro164=	coding	Benign/Likely_benign
17	41818201	C	T	C41818201T	FKBP10	NM_021939.3(FKBP10):c.504C>T:p.Pro168=	coding	Benign/Likely_benign
17	41818934	T	C	T41818934C	FKBP10	NM_021939.3(FKBP10):c.728-276T>C	noncoding	Benign
17	41819214	A	G	A41819214G	FKBP10	NM_021939.3(FKBP10):c.732A>G:p.Thr244=	coding	Benign
17	41819388	C	A	C41819388A	FKBP10	NM_021939.4(FKBP10):c.906C>A:p.Leu302=	coding	Benign
17	41819626	C	T	C41819626T	FKBP10	NM_021939.4(FKBP10):c.1014C>T:p.Arg338=	coding	Benign/Likely_benign
17	41819772	G	A	G41819772A	FKBP10	NM_021939.3(FKBP10):c.1063+97G>A	noncoding	Benign
17	41820342	G	A	G41820342A	FKBP10	NM_021939.4(FKBP10):c.1137G>A:p.Val379=	coding	Benign
17	41820412	C	T	C41820412T	FKBP10	NM_021939.3(FKBP10):c.1207C>T:p.Arg403Ter	coding	Pathogenic
17	41820475	G	C	G41820475C	FKBP10	NM_021939.3(FKBP10):c.1256+14G>C	noncoding	Benign
17	41820625	G	A	G41820625A	FKBP10	NM_021939.3(FKBP10):c.1256+164G>A	noncoding	Benign
17	41821064	G	A	G41821064A	FKBP10	NM_021939.3(FKBP10):c.1374G>A:p.Pro458=	coding	Benign/Likely_benign
17	41821091	T	G	T41821091G	FKBP10	NM_021939.3(FKBP10):c.1399+2T>G	noncoding	Pathogenic
17	41821482	A	G	A41821482G	FKBP10	NM_021939.3(FKBP10):c.1400-172A>G	noncoding	Benign
17	41821610	C	T	C41821610T	FKBP10	NM_021939.3(FKBP10):c.1400-44C>T	noncoding	Benign
17	41821650	C	G	C41821650G	FKBP10	NM_021939.3(FKBP10):c.1400-4C>G	noncoding	Benign/Likely_benign
17	41821800	G	A	G41821800A	FKBP10	NM_021939.4(FKBP10):c.1546G>A:p.Glu516Lys	coding	Benign/Likely_benign
17	41822393	C	T	C41822393T	FKBP10	NM_021939.3(FKBP10):c.1734C>T:p.Val578=	coding	Benign/Likely_benign
17	41822810	T	A	T41822810A	FKBP10	NM_021939.3(FKBP10):c.*402T>A	noncoding	Benign
17	41822829	C	G	C41822829G	FKBP10	NM_021939.3(FKBP10):c.*421C>G	noncoding	Benign
17	41822830	C	G	C41822830G	FKBP10	NM_021939.3(FKBP10):c.*422C>G	noncoding	Benign
17	41842275	A	C	A41842275C	KLHL10	NM_152467.5(KLHL10):c.647A>C:p.Gln216Pro	coding	Benign
17	41845378	G	A	G41845378A	KLHL10	NM_152467.5(KLHL10):c.937G>A:p.Ala313Thr	coding	Pathogenic
17	41878178	G	A	G41878178A	ACLY	NM_001096.3(ACLY):c.2412C>T:p.Leu804=	coding	Benign
17	41892399	G	A	G41892399A	ACLY	NM_001096.3(ACLY):c.1650C>T:p.Ile550=	coding	Benign
17	41905583	C	T	C41905583T	ACLY	NM_001096.3(ACLY):c.942G>A:p.Gln314=	coding	Benign
17	41906521	C	T	C41906521T	ACLY	NM_001096.3(ACLY):c.866+7G>A	noncoding	Benign
17	41906536	G	A	G41906536A	ACLY	NM_001096.3(ACLY):c.858C>T:p.Val286=	coding	Benign
17	41930838	G	T	G41930838T	ODAD4	NM_031421.5(ODAD4):c.114+1G>T	coding	Pathogenic
17	41966808	C	T	C41966808T	CNP	NM_033133.5(CNP):c.-77C>T	noncoding	Pathogenic
17	41966818	C	T	C41966818T	CNP	NM_033133.5(CNP):c.-67C>T	noncoding	Pathogenic
17	41968123	A	C	A41968123C	CNP	NM_033133.5(CNP):c.59A>C:p.Lys20Thr	coding	Pathogenic
17	41968123	A	G	A41968123G	CNP	NM_033133.5(CNP):c.59A>G:p.Lys20Arg	coding	Pathogenic
17	41968309	C	T	C41968309T	CNP	NM_033133.5(CNP):c.245C>T:p.Ser82Leu	coding	Pathogenic
17	41973673	G	A	G41973673A	CNP	NM_033133.5(CNP):c.1015G>A:p.Val339Ile	coding	Pathogenic
17	41973692	G	A	G41973692A	CNP	NM_033133.5(CNP):c.1034G>A:p.Gly345Asp	coding	Pathogenic
17	41973753	C	T	C41973753T	CNP	NM_033133.5(CNP):c.1095C>T:p.Gly365=	coding	Benign
17	42114040	C	T	C42114040T	KAT2A	NM_021078.3(KAT2A):c.2280G>A:p.Ser760=	coding	Benign
17	42114374	A	G	A42114374G	KAT2A	NM_021078.3(KAT2A):c.2155T>C:p.Leu719=	coding	Benign
17	42160331	G	A	G42160331A	KCNH4	NM_012285.3(KCNH4):c.2763C>T:p.Ser921=	coding	Benign
17	42184503	A	C	A42184503C	HCRT	NM_001524.1(HCRT):c.47T>G:p.Leu16Arg	coding	Pathogenic
17	42202325	A	G	A42202325G	STAT5B	NM_012448.3(STAT5B):c.2237+15T>C	noncoding	Benign
17	42210189	C	G	C42210189G	STAT5B	NM_012448.3(STAT5B):c.1888G>C:p.Ala630Pro	coding	Pathogenic
17	42210453	G	A	G42210453A	STAT5B	NM_012448.3(STAT5B):c.1725C>T:p.Asp575=	coding	Benign
17	42216054	G	A	G42216054A	STAT5B	NM_012448.3(STAT5B):c.1433C>T:p.Ala478Val	coding	Pathogenic
17	42216066	T	C	T42216066C	STAT5B	NM_012448.3(STAT5B):c.1421A>G:p.Gln474Arg	coding	Pathogenic
17	42217205	T	C	T42217205C	STAT5B	NM_012448.3(STAT5B):c.1335A>G:p.Glu445=	coding	Benign/Likely_benign
17	42218219	G	T	G42218219T	STAT5B	NM_012448.4(STAT5B):c.1101C>A:p.Pro367=	coding	Benign
17	42218327	C	T	C42218327T	STAT5B	NM_012448.3(STAT5B):c.993G>A:p.Thr331=	coding	Benign
17	42218768	T	G	T42218768G	STAT5B	NM_012448.4(STAT5B):c.944A>C:p.Glu315Ala	coding	Benign
17	42219356	C	T	C42219356T	STAT5B	NM_012448.4(STAT5B):c.789G>A:p.Gly263=	coding	Benign
17	42219455	G	A	G42219455A	STAT5B	NM_012448.3(STAT5B):c.690C>T:p.Ala230=	coding	Benign
17	42223402	T	G	T42223402G	STAT5B	NM_012448.3(STAT5B):c.530A>C:p.Gln177Pro	coding	Pathogenic
17	42223478	G	A	G42223478A	STAT5B	NM_012448.3(STAT5B):c.454C>T:p.Arg152Ter	coding	Pathogenic
17	42227567	G	A	G42227567A	STAT5B	NM_012448.3(STAT5B):c.247C>T:p.Leu83=	coding	Benign
17	42295708	G	A	G42295708A	STAT5A	NM_001288718.1(STAT5A):c.465G>A:p.Thr155=	coding	Benign
17	42299826	T	C	T42299826C	STAT5A	NM_001288718.1(STAT5A):c.626T>C:p.Val209Ala	coding	Benign
17	42307611	G	C	G42307611C	STAT5A	NM_001288718.1(STAT5A):c.1794G>C:p.Val598=	coding	Benign
17	42309043	A	G	A42309043G	STAT5A	NM_001288718.1(STAT5A):c.2063-4A>G	noncoding	Benign
17	42310513	C	T	C42310513T	STAT5A	NM_001288718.1(STAT5A):c.2229C>T:p.Asp743=	coding	Benign
17	42310522	C	T	C42310522T	STAT5A	NM_001288718.1(STAT5A):c.2238C>T:p.Leu746=	coding	Benign
17	42313598	T	C	T42313598C	STAT3	NM_139276.2(STAT3):c.*2147A>G	noncoding	Benign
17	42313814	T	C	T42313814C	STAT3	NM_139276.2(STAT3):c.*1931A>G	noncoding	Benign
17	42313892	T	C	T42313892C	STAT3	NM_139276.2(STAT3):c.*1853A>G	noncoding	Benign
17	42314074	G	A	G42314074A	STAT3	NM_139276.2(STAT3):c.*1671C>T	noncoding	Benign
17	42314228	C	T	C42314228T	STAT3	NM_139276.2(STAT3):c.*1517G>A	noncoding	Benign
17	42314362	C	G	C42314362G	STAT3	NM_139276.2(STAT3):c.*1383G>C	noncoding	Benign
17	42314420	T	C	T42314420C	STAT3	NM_139276.2(STAT3):c.*1325A>G	noncoding	Benign
17	42314429	T	C	T42314429C	STAT3	NM_139276.2(STAT3):c.*1316A>G	noncoding	Benign
17	42314620	C	T	C42314620T	STAT3	NM_139276.2(STAT3):c.*1125G>A	noncoding	Benign
17	42315015	C	T	C42315015T	STAT3	NM_139276.2(STAT3):c.*730G>A	noncoding	Benign
17	42315161	A	C	A42315161C	STAT3	NM_139276.2(STAT3):c.*584T>G	noncoding	Benign
17	42315163	T	A	T42315163A	STAT3	NM_139276.2(STAT3):c.*582A>T	noncoding	Benign
17	42315343	C	T	C42315343T	STAT3	NM_139276.3(STAT3):c.*402G>A	noncoding	Benign
17	42315534	T	G	T42315534G	STAT3	NM_139276.2(STAT3):c.*211A>C	noncoding	Benign
17	42315763	G	A	G42315763A	STAT3	NM_139276.2(STAT3):c.2295C>T:p.Cys765=	coding	Benign
17	42315777	A	G	A42315777G	STAT3	NM_139276.2(STAT3):c.2281T>C:p.Leu761=	coding	Benign
17	42315981	G	T	G42315981T	STAT3	NM_139276.2(STAT3):c.2258-181C>A	noncoding	Benign
17	42316899	G	A	G42316899A	STAT3	NM_139276.2(STAT3):c.2147C>T:p.Thr716Met	coding	Pathogenic
17	42317162	G	A	G42317162A	STAT3	NM_139276.2(STAT3):c.2144+20C>T	noncoding	Benign
17	42317182	G	A	G42317182A	STAT3	NM_139276.2(STAT3):c.2144C>T:p.Pro715Leu	coding	Pathogenic/Likely_pathogenic
17	42317209	A	G	A42317209G	STAT3	NM_139276.2(STAT3):c.2117T>C:p.Leu706Pro	coding	Pathogenic/Likely_pathogenic
17	42317219	C	T	C42317219T	STAT3	NM_139276.2(STAT3):c.2107G>A:p.Ala703Thr	coding	Pathogenic
17	42322292	A	T	A42322292T	STAT3	NM_139276.2(STAT3):c.2091T>A:p.Ala697=	coding	Benign
17	42322395	G	A	G42322395A	STAT3	NM_139276.2(STAT3):c.1988C>T:p.Thr663Ile	coding	Pathogenic/Likely_pathogenic
17	42322404	A	G	A42322404G	STAT3	NM_139276.2(STAT3):c.1979T>C:p.Met660Thr	coding	Pathogenic/Likely_pathogenic
17	42322409	C	G	C42322409G	STAT3	NM_003150.4(STAT3):c.1974G>C:p.Lys658Asn	coding	Pathogenic
17	42322443	T	A	T42322443A	STAT3	NM_139276.3(STAT3):c.1940A>T:p.Asn647Ile	coding	Pathogenic
17	42322445	G	C	G42322445C	STAT3	NM_003150.4(STAT3):c.1938C>G:p.Asn646Lys	coding	Pathogenic
17	42322474	C	T	C42322474T	STAT3	NM_139276.2(STAT3):c.1909G>A:p.Val637Met	coding	Pathogenic
17	42322846	A	G	A42322846G	STAT3	NM_139276.2(STAT3):c.1888+158T>C	noncoding	Benign
17	42323038	G	A	G42323038A	STAT3	NM_139276.2(STAT3):c.1854C>T:p.Gly618=	coding	Benign
17	42323039	C	T	C42323039T	STAT3	NM_139276.2(STAT3):c.1853G>A:p.Gly618Asp	coding	Pathogenic
17	42323052	T	C	T42323052C	STAT3	NM_139276.2(STAT3):c.1840A>G:p.Ser614Gly	coding	Pathogenic
17	42323328	G	A	G42323328A	STAT3	NM_139276.2(STAT3):c.1680C>T:p.Ser560=	coding	Benign
17	42323365	G	C	G42323365C	STAT3	NM_139276.2(STAT3):c.1654-11C>G	noncoding	Benign
17	42325030	T	C	T42325030C	STAT3	NM_139276.2(STAT3):c.1397A>G:p.Asn466Ser	coding	Pathogenic
17	42325046	C	G	C42325046G	STAT3	NM_139276.2(STAT3):c.1381G>C:p.Val461Leu	coding	Benign
17	42326152	G	A	G42326152A	STAT3	NM_139276.2(STAT3):c.1329C>T:p.Thr443=	coding	Benign/Likely_benign
17	42326170	G	T	G42326170T	STAT3	NM_139276.2(STAT3):c.1311C>A:p.His437Gln	coding	Pathogenic
17	42329423	C	T	C42329423T	STAT3	NM_139276.2(STAT3):c.1268G>A:p.Arg423Gln	coding	Pathogenic
17	42329430	C	T	C42329430T	STAT3	NM_139276.2(STAT3):c.1261G>A:p.Gly421Arg	coding	Pathogenic/Likely_pathogenic
17	42329431	A	C	A42329431C	STAT3	NM_139276.2(STAT3):c.1260T>G:p.Asn420Lys	coding	Pathogenic
17	42329448	C	T	C42329448T	STAT3	NM_139276.2(STAT3):c.1243G>A:p.Glu415Lys	coding	Pathogenic/Likely_pathogenic
17	42329612	T	C	T42329612C	STAT3	NM_003150.4(STAT3):c.1175A>G:p.Lys392Arg	coding	Pathogenic
17	42329621	G	A	G42329621A	STAT3	NM_003150.4(STAT3):c.1166C>T:p.Thr389Ile	coding	Pathogenic
17	42329642	C	A	C42329642A	STAT3	NM_003150.4(STAT3):c.1145G>T:p.Arg382Leu	coding	Pathogenic
17	42329642	C	T	C42329642T	STAT3	NM_139276.2(STAT3):c.1145G>A:p.Arg382Gln	coding	Pathogenic
17	42329643	G	A	G42329643A	STAT3	NM_139276.2(STAT3):c.1144C>T:p.Arg382Trp	coding	Pathogenic
17	42329644	G	C	G42329644C	STAT3	NM_139276.2(STAT3):c.1143C>G:p.Ser381=	coding	Benign
17	42329746	C	A	C42329746A	STAT3	NM_139276.2(STAT3):c.1139+1G>T	noncoding	Pathogenic
17	42331385	C	T	C42331385T	STAT3	NM_139276.2(STAT3):c.1109+87G>A	noncoding	Benign
17	42331524	C	A	C42331524A	STAT3	NM_139276.2(STAT3):c.1057G>T:p.Val353Phe	coding	Pathogenic
17	42333690	C	G	C42333690G	STAT3	NM_139276.2(STAT3):c.1032G>C:p.Gln344His	coding	Pathogenic
17	42333711	G	A	G42333711A	STAT3	NM_139276.2(STAT3):c.1011C>T:p.Leu337=	coding	Benign
17	42334022	A	C	A42334022C	STAT3	NM_139276.2(STAT3):c.825T>G:p.Leu275=	coding	Benign
17	42334300	A	T	A42334300T	STAT3	NM_139276.2(STAT3):c.798-251T>A	noncoding	Benign
17	42337521	G	A	G42337521A	STAT3	NM_139276.2(STAT3):c.711C>T:p.Asp237=	coding	Benign
17	42337861	C	T	C42337861T	STAT3	NM_139276.2(STAT3):c.551-4G>A	noncoding	Benign
17	42339113	G	A	G42339113A	STAT3	NM_139276.2(STAT3):c.468+201C>T	noncoding	Benign
17	42339117	G	A	G42339117A	STAT3	NM_139276.2(STAT3):c.468+197C>T	noncoding	Benign
17	42339328	G	A	G42339328A	STAT3	NM_139276.2(STAT3):c.454C>T:p.Arg152Trp	coding	Pathogenic
17	42339377	G	A	G42339377A	STAT3	NM_139276.2(STAT3):c.405C>T:p.Ala135=	coding	Benign/Likely_benign
17	42339662	C	G	C42339662G	STAT3	NM_139276.2(STAT3):c.373-253G>C	noncoding	Benign
17	42346617	C	T	C42346617T	STAT3	NM_139276.2(STAT3):c.225G>A:p.Ser75=	coding	Benign/Likely_benign
17	42348247	C	A	C42348247A	STAT3	NM_139276.2(STAT3):c.128+142G>T	noncoding	Benign
17	42402938	A	G	A42402938G	CAVIN1	NM_012232.6(CAVIN1):c.*1749T>C	noncoding	Benign
17	42402983	G	C	G42402983C	CAVIN1	NM_012232.6(CAVIN1):c.*1704C>G	noncoding	Benign
17	42403096	A	C	A42403096C	CAVIN1	NM_012232.6(CAVIN1):c.*1591T>G	noncoding	Benign
17	42404225	G	A	G42404225A	CAVIN1	NM_012232.6(CAVIN1):c.*462C>T	noncoding	Benign
17	42404229	G	A	G42404229A	CAVIN1	NM_012232.6(CAVIN1):c.*458C>T	noncoding	Benign
17	42404324	G	A	G42404324A	CAVIN1	NM_012232.6(CAVIN1):c.*363C>T	noncoding	Benign
17	42404497	T	C	T42404497C	CAVIN1	NM_012232.6(CAVIN1):c.*190A>G	noncoding	Benign
17	42404933	C	T	C42404933T	CAVIN1	NM_012232.6(CAVIN1):c.927G>A:p.Ala309=	coding	Benign
17	42405017	C	T	C42405017T	CAVIN1	NM_012232.6(CAVIN1):c.843G>A:p.Leu281=	coding	Benign
17	42405143	C	T	C42405143T	CAVIN1	NM_012232.6(CAVIN1):c.717G>A:p.Glu239=	coding	Benign
17	42422626	C	A	C42422626A	CAVIN1	NM_012232.6(CAVIN1):c.471+1G>T	noncoding	Pathogenic
17	42536273	A	G	A42536273G	NAGLU	NM_000263.4(NAGLU):c.1A>G:p.Met1Val	coding	Pathogenic
17	42536414	T	C	T42536414C	NAGLU	NM_000263.4(NAGLU):c.142T>C:p.Phe48Leu	coding	Pathogenic
17	42536517	G	A	G42536517A	NAGLU	NM_000263.4(NAGLU):c.245G>A:p.Gly82Asp	coding	Pathogenic
17	42536563	T	G	T42536563G	NAGLU	NM_000263.4(NAGLU):c.291T>G:p.Cys97Trp	coding	Pathogenic
17	42536630	G	T	G42536630T	NAGLU	NM_000263.4(NAGLU):c.358G>T:p.Glu120Ter	coding	Pathogenic
17	42536656	G	T	G42536656T	NAGLU	NM_000263.4(NAGLU):c.383+1G>T	coding	Pathogenic/Likely_pathogenic
17	42537397	G	A	G42537397A	NAGLU	NM_000263.4(NAGLU):c.384-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	42537433	A	G	A42537433G	NAGLU	NM_000263.4(NAGLU):c.419A>G:p.Tyr140Cys	coding	Pathogenic/Likely_pathogenic
17	42537435	T	A	T42537435A	NAGLU	NM_000263.4(NAGLU):c.421T>A:p.Ser141Thr	coding	Benign
17	42537437	T	C	T42537437C	NAGLU	NM_000263.4(NAGLU):c.423T>C:p.Ser141=	coding	Benign
17	42537517	G	A	G42537517A	NAGLU	NM_000263.4(NAGLU):c.503G>A:p.Trp168Ter	coding	Pathogenic
17	42537543	C	T	C42537543T	NAGLU	NM_000263.4(NAGLU):c.529C>T:p.Arg177Trp	coding	Pathogenic
17	42537595	G	C	G42537595C	NAGLU	NM_000263.4(NAGLU):c.531+50G>C	noncoding	Benign
17	42538100	G	C	G42538100C	NAGLU	NM_000263.4(NAGLU):c.532-239G>C	noncoding	Benign
17	42538482	G	T	G42538482T	NAGLU	NM_000263.4(NAGLU):c.675G>T:p.Leu225=	coding	Benign/Likely_benign
17	42538685	C	T	C42538685T	NAGLU	NM_000263.4(NAGLU):c.694C>T:p.Gln232Ter	coding	Pathogenic
17	42538691	C	T	C42538691T	NAGLU	NM_000263.4(NAGLU):c.700C>T:p.Arg234Cys	coding	Pathogenic
17	42538692	G	C	G42538692C	NAGLU	NM_000263.4(NAGLU):c.701G>C:p.Arg234Pro	coding	Pathogenic/Likely_pathogenic
17	42538774	C	G	C42538774G	NAGLU	NM_000263.4(NAGLU):c.764+19C>G	noncoding	Benign
17	42541074	C	T	C42541074T	NAGLU	NM_000263.4(NAGLU):c.889C>T:p.Arg297Ter	coding	Pathogenic/Likely_pathogenic
17	42541096	G	T	G42541096T	NAGLU	NM_000263.4(NAGLU):c.911G>T:p.Gly304Val	coding	Pathogenic
17	42541111	A	G	A42541111G	NAGLU	NM_000263.4(NAGLU):c.926A>G:p.Tyr309Cys	coding	Pathogenic
17	42541127	C	G	C42541127G	NAGLU	NM_000263.4(NAGLU):c.942C>G:p.Phe314Leu	coding	Pathogenic
17	42541326	C	T	C42541326T	NAGLU	NM_000263.4(NAGLU):c.1021+120C>T	noncoding	Benign
17	42543099	C	T	C42543099T	NAGLU	NM_000263.4(NAGLU):c.1093C>T:p.Gln365Ter	coding	Pathogenic/Likely_pathogenic
17	42543214	T	C	T42543214C	NAGLU	NM_000263.4(NAGLU):c.1208T>C:p.Ile403Thr	coding	Pathogenic
17	42543217	G	A	G42543217A	NAGLU	NM_000263.4(NAGLU):c.1211G>A:p.Trp404Ter	coding	Pathogenic
17	42543247	A	G	A42543247G	NAGLU	NM_000263.4(NAGLU):c.1241A>G:p.His414Arg	coding	Pathogenic/Likely_pathogenic
17	42543360	G	A	G42543360A	NAGLU	NM_000263.4(NAGLU):c.1354G>A:p.Glu452Lys	coding	Pathogenic
17	42543396	C	T	C42543396T	NAGLU	NM_000263.4(NAGLU):c.1390C>T:p.Arg464Ter	coding	Pathogenic/Likely_pathogenic
17	42543450	C	T	C42543450T	NAGLU	NM_000263.4(NAGLU):c.1444C>T:p.Arg482Trp	coding	Pathogenic/Likely_pathogenic
17	42543495	C	G	C42543495G	NAGLU	NM_000263.4(NAGLU):c.1489C>G:p.Leu497Val	coding	Pathogenic
17	42543568	C	T	C42543568T	NAGLU	NM_000263.4(NAGLU):c.1562C>T:p.Pro521Leu	coding	Pathogenic
17	42543569	G	A	G42543569A	NAGLU	NM_000263.4(NAGLU):c.1563G>A:p.Pro521=	coding	Benign
17	42543603	C	T	C42543603T	NAGLU	NM_000263.4(NAGLU):c.1597C>T:p.Arg533Ter	coding	Pathogenic/Likely_pathogenic
17	42543699	C	T	C42543699T	NAGLU	NM_000263.4(NAGLU):c.1693C>T:p.Arg565Trp	coding	Pathogenic
17	42543700	G	A	G42543700A	NAGLU	NM_000263.4(NAGLU):c.1694G>A:p.Arg565Gln	coding	Pathogenic
17	42543700	G	C	G42543700C	NAGLU	NM_000263.4(NAGLU):c.1694G>C:p.Arg565Pro	coding	Pathogenic/Likely_pathogenic
17	42543711	C	T	C42543711T	NAGLU	NM_000263.4(NAGLU):c.1705C>T:p.Gln569Ter	coding	Pathogenic/Likely_pathogenic
17	42543794	C	T	C42543794T	NAGLU	NM_000263.4(NAGLU):c.1788C>T:p.Gly596=	coding	Benign/Likely_benign
17	42543840	A	G	A42543840G	NAGLU	NM_000263.4(NAGLU):c.1834A>G:p.Ser612Gly	coding	Pathogenic/Likely_pathogenic
17	42543882	C	T	C42543882T	NAGLU	NM_000263.4(NAGLU):c.1876C>T:p.Arg626Ter	coding	Pathogenic
17	42543921	G	T	G42543921T	NAGLU	NM_000263.4(NAGLU):c.1915G>T:p.Glu639Ter	coding	Pathogenic/Likely_pathogenic
17	42543933	C	T	C42543933T	NAGLU	NM_000263.4(NAGLU):c.1927C>T:p.Arg643Cys	coding	Pathogenic
17	42543952	G	T	G42543952T	NAGLU	NM_000263.4(NAGLU):c.1946G>T:p.Trp649Leu	coding	Pathogenic
17	42543955	G	A	G42543955A	NAGLU	NM_000263.4(NAGLU):c.1949G>A:p.Gly650Glu	coding	Pathogenic/Likely_pathogenic
17	42543979	A	G	A42543979G	NAGLU	NM_000263.4(NAGLU):c.1973A>G:p.Tyr658Cys	coding	Pathogenic
17	42543989	G	A	G42543989A	NAGLU	NM_000263.4(NAGLU):c.1983G>A:p.Lys661=	coding	Benign
17	42543997	C	T	C42543997T	NAGLU	NM_000263.4(NAGLU):c.1991C>T:p.Ala664Val	coding	Pathogenic
17	42544026	C	T	C42544026T	NAGLU	NM_000263.4(NAGLU):c.2020C>T:p.Arg674Cys	coding	Pathogenic/Likely_pathogenic
17	42544027	G	A	G42544027A	NAGLU	NM_000263.4(NAGLU):c.2021G>A:p.Arg674His	coding	Pathogenic/Likely_pathogenic
17	42544215	C	A	C42544215A	NAGLU	NM_000263.4(NAGLU):c.2209C>A:p.Arg737Ser	coding	Benign
17	42544215	C	G	C42544215G	NAGLU	NM_000263.4(NAGLU):c.2209C>G:p.Arg737Gly	coding	Benign
17	42554567	T	C	T42554567C	HSD17B1	NM_000413.4(HSD17B1):c.702T>C:p.Pro234=	coding	Benign
17	42554661	C	T	C42554661T	HSD17B1	NM_000413.4(HSD17B1):c.718-8C>T	noncoding	Benign
17	42562647	C	T	C42562647T	COASY	NM_025233.7(COASY):c.25C>T:p.Leu9=	coding	Benign
17	42562703	C	T	C42562703T	COASY	NM_025233.7(COASY):c.81C>T:p.Thr27=	coding	Benign/Likely_benign
17	42562778	G	C	G42562778C	COASY	NM_025233.7(COASY):c.156G>C:p.Gln52His	coding	Benign
17	42562786	C	A	C42562786A	COASY	NM_025233.7(COASY):c.164C>A:p.Ser55Tyr	coding	Benign
17	42562797	C	T	C42562797T	COASY	NM_025233.7(COASY):c.175C>T:p.Gln59Ter	coding	Pathogenic
17	42562829	G	A	G42562829A	COASY	NM_025233.7(COASY):c.207G>A:p.Thr69=	coding	Benign/Likely_benign
17	42563016	C	T	C42563016T	COASY	NM_025233.7(COASY):c.394C>T:p.Gln132Ter	coding	Pathogenic
17	42563263	C	T	C42563263T	COASY	NM_025233.7(COASY):c.641C>T:p.Ala214Val	coding	Pathogenic
17	42563552	G	T	G42563552T	COASY	NM_025233.7(COASY):c.700+230G>T	noncoding	Benign
17	42564085	C	T	C42564085T	COASY	NM_025233.7(COASY):c.825C>T:p.Pro275=	coding	Benign/Likely_benign
17	42564136	T	A	T42564136A	COASY	NM_025233.7(COASY):c.876T>A:p.Tyr292Ter	coding	Pathogenic
17	42564145	G	C	G42564145C	COASY	NM_025233.7(COASY):c.885G>C:p.Gly295=	coding	Benign
17	42564502	A	G	A42564502G	COASY	NM_025233.7(COASY):c.972A>G:p.Thr324=	coding	Benign
17	42565654	C	G	C42565654G	COASY	NM_025233.7(COASY):c.1486-5C>G	noncoding	Benign
17	42565668	C	T	C42565668T	COASY	NM_025233.7(COASY):c.1495C>T:p.Arg499Cys	coding	Pathogenic
17	42565760	C	T	C42565760T	COASY	NM_025233.7(COASY):c.1587C>T:p.His529=	coding	Benign
17	42565939	A	G	A42565939G	COASY	NM_025233.7(COASY):c.1666A>G:p.Ile556Val	coding	Benign
17	42567651	C	T	C42567651T	MLX	NM_198204.2(MLX):c.75C>T:p.Asp25=	coding	Benign
17	42573361	A	T	A42573361T	PSMC3IP	NM_016556.4(PSMC3IP):c.487T>A:p.Tyr163Asn	coding	Benign
17	42573598	C	T	C42573598T	PSMC3IP	NM_016556.4(PSMC3IP):c.363G>A:p.Leu121=	coding	Benign
17	42574190	A	G	A42574190G	PSMC3IP	NM_016556.4(PSMC3IP):c.246T>C:p.Ser82=	coding	Benign
17	42577312	G	A	G42577312A	PSMC3IP	NM_016556.4(PSMC3IP):c.136-10C>T	noncoding	Benign
17	42577657	C	T	C42577657T	PSMC3IP	NM_016556.4(PSMC3IP):c.30G>A:p.Ala10=	coding	Benign
17	42609335	C	A	C42609335A	TUBG1	NM_178126.4(RETREG3):c.-11G>T	noncoding	Benign
17	42610535	A	G	A42610535G	TUBG1	NM_001070.5(TUBG1):c.275A>G:p.Tyr92Cys	coding	Pathogenic
17	42610705	C	G	C42610705G	TUBG1	NM_001070.5(TUBG1):c.330+115C>G	noncoding	Benign
17	42612177	A	G	A42612177G	TUBG1	NM_001070.5(TUBG1):c.399+34A>G	noncoding	Benign
17	42612391	A	G	A42612391G	TUBG1	NM_001070.5(TUBG1):c.400-36A>G	noncoding	Benign
17	42612941	C	T	C42612941T	TUBG1	NM_001070.5(TUBG1):c.480-6C>T	noncoding	Benign/Likely_benign
17	42613694	G	A	G42613694A	TUBG1	NM_001070.5(TUBG1):c.654G>A:p.Leu218=	coding	Benign/Likely_benign
17	42613968	C	T	C42613968T	TUBG1	NM_001070.5(TUBG1):c.813C>T:p.Thr271=	coding	Benign
17	42614407	A	C	A42614407C	TUBG1	NM_001070.5(TUBG1):c.991A>C:p.Thr331Pro	coding	Pathogenic
17	42614528	C	G	C42614528G	TUBG1	NM_001070.5(TUBG1):c.1029C>G:p.Arg343=	coding	Benign
17	42614845	T	C	T42614845C	TUBG1	NM_001070.5(TUBG1):c.1160T>C:p.Leu387Pro	coding	Pathogenic
17	42614960	G	A	G42614960A	TUBG1	NM_001070.5(TUBG1):c.1275G>A:p.Arg425=	coding	Benign/Likely_benign
17	42659901	A	G	A42659901G	TUBG2	NM_016437.3(TUBG2):c.117A>G:p.Glu39=	coding	Benign
17	42680177	G	C	G42680177C	CCR10	NM_016602.3(CCR10):c.465C>G:p.Pro155=	coding	Benign
17	42681816	G	A	G42681816A	CCR10	NM_016602.3(CCR10):c.8C>T:p.Thr3Met	coding	Benign
17	42683822	C	G	C42683822G	CNTNAP1	NM_003632.3(CNTNAP1):c.69C>G:p.Tyr23Ter	coding	Pathogenic
17	42683904	A	C	A42683904C	CNTNAP1	NM_003632.3(CNTNAP1):c.151A>C:p.Arg51=	coding	Benign
17	42684193	C	T	C42684193T	CNTNAP1	NM_003632.3(CNTNAP1):c.327C>T:p.Asp109=	coding	Benign
17	42685269	G	A	G42685269A	CNTNAP1	NM_003632.3(CNTNAP1):c.564G>A:p.Pro188=	coding	Benign
17	42685340	T	C	T42685340C	CNTNAP1	NM_003632.3(CNTNAP1):c.635T>C:p.Leu212Pro	coding	Pathogenic
17	42686006	C	T	C42686006T	CNTNAP1	NM_003632.3(CNTNAP1):c.765C>T:p.Gly255=	coding	Benign
17	42686969	T	C	T42686969C	CNTNAP1	NM_003632.3(CNTNAP1):c.967T>C:p.Cys323Arg	coding	Pathogenic
17	42687926	G	A	G42687926A	CNTNAP1	NM_003632.3(CNTNAP1):c.1251G>A:p.Gly417=	coding	Benign
17	42687957	C	T	C42687957T	CNTNAP1	NM_003632.3(CNTNAP1):c.1282C>T:p.Arg428Ter	coding	Pathogenic
17	42688996	G	A	G42688996A	CNTNAP1	NM_003632.3(CNTNAP1):c.1577G>A:p.Arg526Gln	coding	Benign
17	42689569	G	A	G42689569A	CNTNAP1	NM_003632.3(CNTNAP1):c.1677G>A:p.Trp559Ter	coding	Pathogenic
17	42690752	G	A	G42690752A	CNTNAP1	NM_003632.3(CNTNAP1):c.1869G>A:p.Trp623Ter	coding	Pathogenic
17	42690894	C	T	C42690894T	CNTNAP1	NM_003632.3(CNTNAP1):c.2011C>T:p.Gln671Ter	coding	Pathogenic
17	42690898	G	A	G42690898A	CNTNAP1	NM_003632.3(CNTNAP1):c.2015G>A:p.Trp672Ter	coding	Pathogenic
17	42691403	C	T	C42691403T	CNTNAP1	NM_003632.3(CNTNAP1):c.2236C>T:p.Leu746=	coding	Benign
17	42691457	C	T	C42691457T	CNTNAP1	NM_003632.3(CNTNAP1):c.2290C>T:p.Arg764Cys	coding	Pathogenic
17	42691507	C	A	C42691507A	CNTNAP1	NM_003632.3(CNTNAP1):c.2340C>A:p.Gly780=	coding	Benign
17	42691511	C	T	C42691511T	CNTNAP1	NM_003632.3(CNTNAP1):c.2344C>T:p.Arg782Ter	coding	Pathogenic
17	42692636	C	T	C42692636T	CNTNAP1	NM_003632.3(CNTNAP1):c.2668C>T:p.Arg890Ter	coding	Pathogenic
17	42692715	A	G	A42692715G	CNTNAP1	NM_003632.3(CNTNAP1):c.2747A>G:p.Tyr916Cys	coding	Benign
17	42693523	A	G	A42693523G	CNTNAP1	NM_003632.3(CNTNAP1):c.2979A>G:p.Pro993=	coding	Benign
17	42697272	A	C	A42697272C	CNTNAP1	NM_003632.3(CNTNAP1):c.3475-2A>C	noncoding	Pathogenic
17	42697735	C	T	C42697735T	CNTNAP1	NM_003632.3(CNTNAP1):c.3750C>T:p.Cys1250=	coding	Benign
17	42774672	A	G	A42774672G	VPS25	NM_032353.4(VPS25):c.226A>G:p.Ile76Val	coding	Benign
17	42780677	C	T	C42780677T	WNK4	NM_032387.5(WNK4):c.-22C>T	noncoding	Benign
17	42780714	G	A	G42780714A	WNK4	NM_032387.5(WNK4):c.16G>A:p.Ala6Thr	coding	Benign
17	42780745	C	T	C42780745T	WNK4	NM_032387.5(WNK4):c.47C>T:p.Thr16Ile	coding	Benign
17	42780790	C	A	C42780790A	WNK4	NM_032387.5(WNK4):c.92C>A:p.Ala31Glu	coding	Benign
17	42780937	C	A	C42780937A	WNK4	NM_032387.5(WNK4):c.239C>A:p.Ala80Asp	coding	Benign
17	42781081	C	G	C42781081G	WNK4	NM_032387.5(WNK4):c.383C>G:p.Pro128Arg	coding	Benign
17	42781205	C	A	C42781205A	WNK4	NM_032387.5(WNK4):c.507C>A:p.Pro169=	coding	Benign
17	42782818	G	T	G42782818T	WNK4	NM_032387.5(WNK4):c.679G>T:p.Gly227Trp	coding	Benign
17	42784090	C	T	C42784090T	WNK4	NM_032387.5(WNK4):c.945C>T:p.Gly315=	coding	Benign
17	42785329	A	T	A42785329T	WNK4	NM_032387.5(WNK4):c.1323A>T:p.Glu441Asp	coding	Benign
17	42785411	C	T	C42785411T	WNK4	NM_032387.5(WNK4):c.1405C>T:p.Arg469Trp	coding	Benign
17	42785420	C	G	C42785420G	WNK4	NM_032387.5(WNK4):c.1414C>G:p.Gln472Glu	coding	Benign
17	42787265	A	G	A42787265G	WNK4	NM_032387.5(WNK4):c.1477-13A>G	noncoding	Benign
17	42787325	T	C	T42787325C	WNK4	NM_032387.5(WNK4):c.1524T>C:p.Arg508=	coding	Benign
17	42787373	G	T	G42787373T	WNK4	NM_032387.5(WNK4):c.1572G>T:p.Leu524=	coding	Benign
17	42787375	G	A	G42787375A	WNK4	NM_032387.5(WNK4):c.1574G>A:p.Arg525His	coding	Benign
17	42787442	C	T	C42787442T	WNK4	NM_032387.5(WNK4):c.1641C>T:p.Ala547=	coding	Benign
17	42787454	C	T	C42787454T	WNK4	NM_032387.5(WNK4):c.1653C>T:p.Pro551=	coding	Benign
17	42787465	C	G	C42787465G	WNK4	NM_032387.5(WNK4):c.1664C>G:p.Pro555Arg	coding	Benign
17	42787467	C	A	C42787467A	WNK4	NM_032387.5(WNK4):c.1666C>A:p.Pro556Thr	coding	Benign
17	42787480	A	G	A42787480G	WNK4	NM_032387.5(WNK4):c.1679A>G:p.Glu560Gly	coding	Pathogenic
17	42787483	C	T	C42787483T	WNK4	NM_032387.5(WNK4):c.1682C>T:p.Pro561Leu	coding	Pathogenic
17	42787485	G	A	G42787485A	WNK4	NM_032387.5(WNK4):c.1684G>A:p.Glu562Lys	coding	Pathogenic
17	42787491	G	C	G42787491C	WNK4	NM_032387.5(WNK4):c.1690G>C:p.Asp564His	coding	Pathogenic
17	42787492	A	C	A42787492C	WNK4	NM_032387.5(WNK4):c.1691A>C:p.Asp564Ala	coding	Pathogenic
17	42787494	C	G	C42787494G	WNK4	NM_032387.5(WNK4):c.1693C>G:p.Gln565Glu	coding	Pathogenic
17	42787520	C	T	C42787520T	WNK4	NM_032387.5(WNK4):c.1719C>T:p.His573=	coding	Benign
17	42787779	G	A	G42787779A	WNK4	NM_032387.5(WNK4):c.1743G>A:p.Ser581=	coding	Benign
17	42787837	G	T	G42787837T	WNK4	NM_032387.5(WNK4):c.1801G>T:p.Ala601Ser	coding	Benign
17	42787863	A	G	A42787863G	WNK4	NM_032387.5(WNK4):c.1827A>G:p.Pro609=	coding	Benign/Likely_benign
17	42787889	G	T	G42787889T	WNK4	NM_032387.5(WNK4):c.1853G>T:p.Cys618Phe	coding	Benign
17	42787891	C	T	C42787891T	WNK4	NM_032387.5(WNK4):c.1855C>T:p.Leu619=	coding	Benign
17	42788119	T	C	T42788119C	WNK4	NM_032387.5(WNK4):c.1864-11T>C	noncoding	Benign
17	42788151	C	T	C42788151T	WNK4	NM_032387.5(WNK4):c.1885C>T:p.Arg629Cys	coding	Benign
17	42788154	T	C	T42788154C	WNK4	NM_032387.5(WNK4):c.1888T>C:p.Ser630Pro	coding	Benign
17	42788396	C	T	C42788396T	WNK4	NM_032387.5(WNK4):c.2029C>T:p.Arg677Trp	coding	Benign
17	42793641	G	A	G42793641A	WNK4	NM_032387.5(WNK4):c.2207G>A:p.Arg736Gln	coding	Benign
17	42793658	C	G	C42793658G	WNK4	NM_032387.5(WNK4):c.2224C>G:p.Gln742Glu	coding	Benign
17	42794652	C	T	C42794652T	WNK4	NM_032387.5(WNK4):c.2334C>T:p.Leu778=	coding	Benign
17	42794666	A	G	A42794666G	WNK4	NM_032387.5(WNK4):c.2348A>G:p.Asn783Ser	coding	Benign
17	42794790	C	A	C42794790A	WNK4	NM_032387.5(WNK4):c.2369C>A:p.Thr790Asn	coding	Benign
17	42794895	C	T	C42794895T	WNK4	NM_032387.5(WNK4):c.2474C>T:p.Pro825Leu	coding	Benign
17	42794897	G	A	G42794897A	WNK4	NM_032387.5(WNK4):c.2476G>A:p.Gly826Ser	coding	Benign/Likely_benign
17	42795009	T	G	T42795009G	WNK4	NM_032387.5(WNK4):c.2588T>G:p.Leu863Arg	coding	Benign
17	42795093	C	T	C42795093T	WNK4	NM_032387.5(WNK4):c.2672C>T:p.Thr891Met	coding	Benign
17	42795145	G	A	G42795145A	WNK4	NM_032387.5(WNK4):c.2724G>A:p.Pro908=	coding	Benign
17	42795263	C	A	C42795263A	WNK4	NM_032387.5(WNK4):c.2842C>A:p.Leu948Ile	coding	Benign
17	42795302	C	T	C42795302T	WNK4	NM_032387.5(WNK4):c.2881C>T:p.Pro961Ser	coding	Benign
17	42795524	A	G	A42795524G	WNK4	NM_032387.5(WNK4):c.3022+3A>G	noncoding	Benign
17	42795634	C	G	C42795634G	WNK4	NM_032387.5(WNK4):c.3032C>G:p.Pro1011Arg	coding	Benign/Likely_benign
17	42795676	C	T	C42795676T	WNK4	NM_032387.5(WNK4):c.3074C>T:p.Pro1025Leu	coding	Benign
17	42795853	T	C	T42795853C	WNK4	NM_032387.5(WNK4):c.3251T>C:p.Val1084Ala	coding	Benign
17	42796196	A	G	A42796196G	WNK4	NM_032387.5(WNK4):c.3505A>G:p.Lys1169Glu	coding	Pathogenic
17	42796209	C	A	C42796209A	WNK4	NM_032387.5(WNK4):c.3518C>A:p.Pro1173Gln	coding	Benign
17	42796286	C	A	C42796286A	WNK4	NM_032387.5(WNK4):c.3595C>A:p.Arg1199Ser	coding	Benign
17	42796301	C	T	C42796301T	WNK4	NM_032387.5(WNK4):c.3610C>T:p.Arg1204Cys	coding	Benign
17	42796694	G	A	G42796694A	WNK4	NM_032387.5(WNK4):c.*6G>A	noncoding	Benign
17	42797023	C	G	C42797023G	WNK4	NM_032387.5(WNK4):c.*335C>G	noncoding	Benign
17	42798167	T	C	T42798167C	COA3	NM_001040431.3(COA3):c.215A>G:p.Tyr72Cys	coding	Pathogenic
17	42814515	A	G	A42814515G	BECN1	NM_001313998.2(BECN1):c.980+9T>C	noncoding	Benign
17	42845048	C	T	C42845048T	AOC2	NM_009590.4(AOC2):c.422C>T:p.Pro141Leu	coding	Benign
17	42849288	C	T	C42849288T	AOC2	NM_009590.4(AOC2):c.1791C>T:p.Arg597=	coding	Benign
17	42852329	G	A	G42852329A	AOC3	NM_003734.4(AOC3):c.986G>A:p.Arg329Gln	coding	Benign
17	42852455	T	C	T42852455C	AOC3	NM_003734.4(AOC3):c.1112T>C:p.Ile371Thr	coding	Benign
17	42852559	T	A	T42852559A	AOC3	NM_003734.4(AOC3):c.1216T>A:p.Tyr406Asn	coding	Benign
17	42852664	C	T	C42852664T	AOC3	NM_003734.4(AOC3):c.1321C>T:p.Arg441Trp	coding	Benign
17	42854572	C	T	C42854572T	AOC3	NM_003734.4(AOC3):c.1725C>T:p.Ala575=	coding	Benign
17	42854591	G	A	G42854591A	AOC3	NM_003734.4(AOC3):c.1744G>A:p.Ala582Thr	coding	Benign
17	42900989	A	T	A42900989T	G6PC1	NM_000151.4(G6PC1):c.113A>T:p.Asp38Val	coding	Pathogenic
17	42901008	C	T	C42901008T	G6PC1	NM_000151.4(G6PC1):c.132C>T:p.Tyr44=	coding	Benign/Likely_benign
17	42901037	A	C	A42901037C	G6PC1	NM_000151.4(G6PC1):c.161A>C:p.Gln54Pro	coding	Pathogenic/Likely_pathogenic
17	42901065	G	A	G42901065A	G6PC1	NM_000151.4(G6PC1):c.189G>A:p.Trp63Ter	coding	Pathogenic/Likely_pathogenic
17	42901085	G	A	G42901085A	G6PC1	NM_000151.4(G6PC1):c.209G>A:p.Trp70Ter	coding	Pathogenic
17	42901104	G	C	G42901104C	G6PC1	NM_000151.4(G6PC1):c.228G>C:p.Lys76Asn	coding	Pathogenic
17	42901105	T	C	T42901105C	G6PC1	NM_000151.4(G6PC1):c.229T>C:p.Trp77Arg	coding	Pathogenic/Likely_pathogenic
17	42901110	A	G	A42901110G	G6PC1	NM_000151.4(G6PC1):c.230+4A>G	noncoding	Pathogenic
17	42903947	C	T	C42903947T	G6PC1	NM_000151.4(G6PC1):c.247C>T:p.Arg83Cys	coding	Pathogenic
17	42903948	G	A	G42903948A	G6PC1	NM_000151.4(G6PC1):c.248G>A:p.Arg83His	coding	Pathogenic
17	42903955	C	A	C42903955A	G6PC1	NM_000151.4(G6PC1):c.255C>A:p.Tyr85Ter	coding	Pathogenic
17	42903958	G	A	G42903958A	G6PC1	NM_000151.4(G6PC1):c.258G>A:p.Trp86Ter	coding	Pathogenic
17	42904010	C	T	C42904010T	G6PC1	NM_000151.4(G6PC1):c.310C>T:p.Gln104Ter	coding	Pathogenic
17	42904028	G	A	G42904028A	G6PC1	NM_000151.4(G6PC1):c.328G>A:p.Glu110Lys	coding	Pathogenic/Likely_pathogenic
17	42907538	A	T	A42907538T	G6PC1	NM_000151.4(G6PC1):c.356A>T:p.His119Leu	coding	Pathogenic
17	42907552	G	A	G42907552A	G6PC1	NM_000151.4(G6PC1):c.370G>A:p.Ala124Thr	coding	Pathogenic/Likely_pathogenic
17	42907566	C	G	C42907566G	G6PC1	NM_000151.4(G6PC1):c.384C>G:p.Tyr128Ter	coding	Pathogenic
17	42907614	G	A	G42907614A	G6PC1	NM_000151.4(G6PC1):c.432G>A:p.Pro144=	coding	Benign/Likely_benign
17	42909353	T	G	T42909353G	G6PC1	NM_000151.4(G6PC1):c.497T>G:p.Val166Gly	coding	Pathogenic
17	42909364	C	T	C42909364T	G6PC1	NM_000151.4(G6PC1):c.508C>T:p.Arg170Ter	coding	Pathogenic
17	42909365	G	A	G42909365A	G6PC1	NM_000151.4(G6PC1):c.509G>A:p.Arg170Gln	coding	Pathogenic
17	42909372	C	A	C42909372A	G6PC1	NM_000151.4(G6PC1):c.516C>A:p.Tyr172Ter	coding	Pathogenic/Likely_pathogenic
17	42909374	T	C	T42909374C	G6PC1	NM_000151.4(G6PC1):c.518T>C:p.Leu173Pro	coding	Pathogenic
17	42909407	G	A	G42909407A	G6PC1	NM_000151.4(G6PC1):c.551G>A:p.Gly184Glu	coding	Pathogenic
17	42909407	G	T	G42909407T	G6PC1	NM_000151.4(G6PC1):c.551G>T:p.Gly184Val	coding	Pathogenic
17	42909418	G	A	G42909418A	G6PC1	NM_000151.4(G6PC1):c.562G>A:p.Gly188Ser	coding	Pathogenic
17	42909418	G	C	G42909418C	G6PC1	NM_000151.4(G6PC1):c.562G>C:p.Gly188Arg	coding	Pathogenic
17	42910912	C	G	C42910912G	G6PC1	NM_000151.4(G6PC1):c.563-3C>G	noncoding	Pathogenic
17	42910967	C	T	C42910967T	G6PC1	NM_000151.4(G6PC1):c.615C>T:p.Ser205=	coding	Benign
17	42911000	G	T	G42911000T	G6PC1	NM_000151.4(G6PC1):c.648G>T:p.Leu216=	coding	Pathogenic/Likely_pathogenic
17	42911016	G	A	G42911016A	G6PC1	NM_000151.4(G6PC1):c.664G>A:p.Gly222Arg	coding	Pathogenic
17	42911076	C	T	C42911076T	G6PC1	NM_000151.4(G6PC1):c.724C>T:p.Gln242Ter	coding	Pathogenic/Likely_pathogenic
17	42911161	G	T	G42911161T	G6PC1	NM_000151.4(G6PC1):c.809G>T:p.Gly270Val	coding	Pathogenic/Likely_pathogenic
17	42911235	C	T	C42911235T	G6PC1	NM_000151.4(G6PC1):c.883C>T:p.Arg295Cys	coding	Pathogenic/Likely_pathogenic
17	42911321	C	A	C42911321A	G6PC1	NM_000151.4(G6PC1):c.969C>A:p.Tyr323Ter	coding	Pathogenic/Likely_pathogenic
17	42911344	C	T	C42911344T	G6PC1	NM_000151.4(G6PC1):c.992C>T:p.Ala331Val	coding	Benign
17	42911354	C	T	C42911354T	G6PC1	NM_000151.4(G6PC1):c.1002C>T:p.Pro334=	coding	Benign/Likely_benign
17	42911364	G	T	G42911364T	G6PC1	NM_000151.4(G6PC1):c.1012G>T:p.Val338Phe	coding	Pathogenic/Likely_pathogenic
17	42911374	T	A	T42911374A	G6PC1	NM_000151.4(G6PC1):c.1022T>A:p.Ile341Asn	coding	Pathogenic
17	42911391	C	T	C42911391T	G6PC1	NM_000151.4(G6PC1):c.1039C>T:p.Gln347Ter	coding	Pathogenic
17	42911429	G	A	G42911429A	G6PC1	NM_000151.4(G6PC1):c.*3G>A	noncoding	Benign/Likely_benign
17	42911449	T	C	T42911449C	G6PC1	NM_000151.4(G6PC1):c.*23T>C	noncoding	Benign
17	42912153	T	C	T42912153C	G6PC1	NM_000151.4(G6PC1):c.*727T>C	noncoding	Benign
17	42912303	T	C	T42912303C	G6PC1	NM_000151.4(G6PC1):c.*877T>C	noncoding	Benign
17	42912438	C	T	C42912438T	G6PC1	NM_000151.4(G6PC1):c.*1012C>T	noncoding	Benign
17	42913514	A	T	A42913514T	G6PC1	NM_000151.4(G6PC1):c.*2088A>T	noncoding	Benign
17	42913900	C	T	C42913900T	G6PC1	NM_000151.4(G6PC1):c.*2474C>T	noncoding	Benign
17	42913958	G	A	G42913958A	G6PC1	NM_000151.4(G6PC1):c.*2532G>A	noncoding	Benign
17	42998748	G	A	G42998748A	RPL27	NM_000988.5(RPL27):c.-2-1G>A	noncoding	Pathogenic
17	43000031	G	A	G43000031A	RPL27	NM_000988.5(RPL27):c.180G>A:p.Lys60=	coding	Benign
17	43013615	G	A	G43013615A	IFI35	NM_001330230.2(IFI35):c.515G>A:p.Arg172Gln	coding	Benign
17	43022208	C	T	C43022208T	VAT1	NM_006373.4(VAT1):c.115G>A:p.Ala39Thr	coding	Benign
17	43039471	G	A	G43039471A	BRCA1	NM_007294.3(BRCA1):c.*6207C>T	noncoding	Benign
17	43039818	G	A	G43039818A	BRCA1	NM_007294.3(BRCA1):c.*5860C>T	noncoding	Benign
17	43040165	C	T	C43040165T	BRCA1	NM_007294.3(BRCA1):c.*5513G>A	noncoding	Benign
17	43041622	G	T	G43041622T	BRCA1	NM_007294.3(BRCA1):c.*4056C>A	noncoding	Benign
17	43041893	A	T	A43041893T	BRCA1	NM_007294.3(BRCA1):c.*3785T>A	noncoding	Benign
17	43042868	T	C	T43042868C	BRCA1	NM_007294.3(BRCA1):c.*2810A>G	noncoding	Benign
17	43043008	T	A	T43043008A	BRCA1	NM_007294.3(BRCA1):c.*2670A>T	noncoding	Benign
17	43043076	G	A	G43043076A	BRCA1	NM_007294.3(BRCA1):c.*2602C>T	noncoding	Benign
17	43043694	G	C	G43043694C	BRCA1	NM_007294.3(BRCA1):c.*1984C>G	noncoding	Benign
17	43043756	A	G	A43043756G	BRCA1	NM_007294.3(BRCA1):c.*1922T>C	noncoding	Benign
17	43044346	C	T	C43044346T	BRCA1	NM_007294.4(BRCA1):c.*1332G>A	noncoding	Benign
17	43044351	C	T	C43044351T	BRCA1	NM_007294.4(BRCA1):c.*1327G>A	noncoding	Benign
17	43044391	G	A	G43044391A	BRCA1	NM_007294.4(BRCA1):c.*1287C>T	noncoding	Benign
17	43044565	C	T	C43044565T	BRCA1	NM_007294.4(BRCA1):c.*1113G>A	noncoding	Benign
17	43044897	G	A	G43044897A	BRCA1	NM_007294.4(BRCA1):c.*781C>T	noncoding	Benign
17	43045257	C	A	C43045257A	BRCA1	NM_007294.4(BRCA1):c.*421G>T	noncoding	Benign
17	43045450	T	C	T43045450C	BRCA1	NM_007294.4(BRCA1):c.*228A>G	noncoding	Benign
17	43045572	G	C	G43045572C	BRCA1	NM_007294.4(BRCA1):c.*106C>G	noncoding	Benign
17	43045642	G	C	G43045642C	BRCA1	NM_007294.4(BRCA1):c.*36C>G	noncoding	Benign
17	43045658	G	A	G43045658A	BRCA1	NM_007294.4(BRCA1):c.*20C>T	noncoding	Benign/Likely_benign
17	43045691	T	G	T43045691G	BRCA1	NM_007294.4(BRCA1):c.5579A>C:p.His1860Pro	coding	Benign
17	43045694	G	C	G43045694C	BRCA1	NM_007294.4(BRCA1):c.5576C>G:p.Pro1859Arg	coding	Benign
17	43045698	T	G	T43045698G	BRCA1	NM_007294.4(BRCA1):c.5572A>C:p.Ile1858Leu	coding	Benign
17	43045711	G	C	G43045711C	BRCA1	NM_007294.4(BRCA1):c.5559C>G:p.Tyr1853Ter	coding	Pathogenic
17	43045711	G	T	G43045711T	BRCA1	NM_007294.4(BRCA1):c.5559C>A:p.Tyr1853Ter	coding	Pathogenic
17	43045712	T	C	T43045712C	BRCA1	NM_007294.4(BRCA1):c.5558A>G:p.Tyr1853Cys	coding	Pathogenic/Likely_pathogenic
17	43045728	G	A	G43045728A	BRCA1	NM_007294.4(BRCA1):c.5542C>T:p.Gln1848Ter	coding	Pathogenic
17	43045729	G	T	G43045729T	BRCA1	NM_007294.4(BRCA1):c.5541C>A:p.Cys1847Ter	coding	Pathogenic
17	43045734	G	A	G43045734A	BRCA1	NM_007294.4(BRCA1):c.5536C>T:p.Gln1846Ter	coding	Pathogenic
17	43045735	G	C	G43045735C	BRCA1	NM_007294.4(BRCA1):c.5535C>G:p.Tyr1845Ter	coding	Pathogenic
17	43045735	G	T	G43045735T	BRCA1	NM_007294.4(BRCA1):c.5535C>A:p.Tyr1845Ter	coding	Pathogenic
17	43045739	A	C	A43045739C	BRCA1	NM_007294.4(BRCA1):c.5531T>G:p.Leu1844Arg	coding	Benign
17	43045754	A	G	A43045754G	BRCA1	NM_007294.4(BRCA1):c.5516T>C:p.Leu1839Ser	coding	Pathogenic
17	43045757	A	T	A43045757T	BRCA1	NM_007294.4(BRCA1):c.5513T>A:p.Val1838Glu	coding	Pathogenic
17	43045759	C	A	C43045759A	BRCA1	NM_007294.4(BRCA1):c.5511G>T:p.Trp1837Cys	coding	Pathogenic/Likely_pathogenic
17	43045759	C	T	C43045759T	BRCA1	NM_007294.4(BRCA1):c.5511G>A:p.Trp1837Ter	coding	Pathogenic
17	43045760	C	T	C43045760T	BRCA1	NM_007294.4(BRCA1):c.5510G>A:p.Trp1837Ter	coding	Pathogenic
17	43045761	A	G	A43045761G	BRCA1	NM_007294.4(BRCA1):c.5509T>C:p.Trp1837Arg	coding	Pathogenic
17	43045761	A	T	A43045761T	BRCA1	NM_007294.4(BRCA1):c.5509T>A:p.Trp1837Arg	coding	Pathogenic
17	43045764	C	A	C43045764A	BRCA1	NM_007294.4(BRCA1):c.5506G>T:p.Glu1836Ter	coding	Pathogenic
17	43045767	G	A	G43045767A	BRCA1	NM_007294.4(BRCA1):c.5503C>T:p.Arg1835Ter	coding	Pathogenic
17	43045773	C	T	C43045773T	BRCA1	NM_007294.4(BRCA1):c.5497G>A:p.Val1833Met	coding	Pathogenic/Likely_pathogenic
17	43045794	G	A	G43045794A	BRCA1	NM_007294.4(BRCA1):c.5476C>T:p.Gln1826Ter	coding	Pathogenic
17	43045803	C	T	C43045803T	BRCA1	NM_007294.3(BRCA1):c.5468-1G>A	coding	Pathogenic
17	43045804	T	A	T43045804A	BRCA1	NM_007294.3(BRCA1):c.5468-2A>T	noncoding	Pathogenic/Likely_pathogenic
17	43045804	T	C	T43045804C	BRCA1	NM_007294.3(BRCA1):c.5468-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43045812	G	T	G43045812T	BRCA1	NM_007294.4(BRCA1):c.5468-10C>A	noncoding	Benign
17	43045842	A	T	A43045842T	BRCA1	NM_007294.3(BRCA1):c.5468-40T>A	noncoding	Pathogenic
17	43046931	G	C	G43046931C	BRCA1	NM_007294.3(BRCA1):c.5467+712C>G	noncoding	Benign
17	43046985	C	T	C43046985T	BRCA1	NM_007294.3(BRCA1):c.5467+658G>A	noncoding	Benign
17	43047106	T	C	T43047106C	BRCA1	NM_007294.3(BRCA1):c.5467+537A>G	noncoding	Benign
17	43047641	A	G	A43047641G	BRCA1	NM_007294.3(BRCA1):c.5467+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	43047642	C	T	C43047642T	BRCA1	NM_007294.3(BRCA1):c.5467+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	43047643	C	T	C43047643T	BRCA1	NM_007294.4(BRCA1):c.5467G>A:p.Ala1823Thr	coding	Pathogenic
17	43047654	T	C	T43047654C	BRCA1	NM_007294.4(BRCA1):c.5456A>G:p.Asn1819Ser	coding	Benign/Likely_benign
17	43047657	T	C	T43047657C	BRCA1	NM_007294.4(BRCA1):c.5453A>G:p.Asp1818Gly	coding	Pathogenic/Likely_pathogenic
17	43047661	C	A	C43047661A	BRCA1	NM_007294.4(BRCA1):c.5449G>T:p.Glu1817Ter	coding	Pathogenic
17	43047665	C	T	C43047665T	BRCA1	NM_007294.4(BRCA1):c.5445G>A:p.Trp1815Ter	coding	Pathogenic
17	43047666	C	T	C43047666T	BRCA1	NM_007294.4(BRCA1):c.5444G>A:p.Trp1815Ter	coding	Pathogenic
17	43047676	G	C	G43047676C	BRCA1	NM_007294.4(BRCA1):c.5434C>G:p.Pro1812Ala	coding	Pathogenic/Likely_pathogenic
17	43047679	G	A	G43047679A	BRCA1	NM_007294.4(BRCA1):c.5431C>T:p.Gln1811Ter	coding	Pathogenic
17	43047699	A	T	A43047699T	BRCA1	NM_007294.4(BRCA1):c.5411T>A:p.Val1804Asp	coding	Benign
17	43047702	C	G	C43047702G	BRCA1	NM_007294.4(BRCA1):c.5408G>C:p.Gly1803Ala	coding	Pathogenic/Likely_pathogenic
17	43047704	C	G	C43047704G	BRCA1	NM_007294.3(BRCA1):c.5407-1G>C	coding	Pathogenic/Likely_pathogenic
17	43047704	C	T	C43047704T	BRCA1	NM_007294.4(BRCA1):c.5407-1G>A	coding	Pathogenic/Likely_pathogenic
17	43047705	T	A	T43047705A	BRCA1	NM_007294.3(BRCA1):c.5407-2A>T	noncoding	Pathogenic
17	43047705	T	C	T43047705C	BRCA1	NM_007294.3(BRCA1):c.5407-2A>G	noncoding	Pathogenic
17	43048825	C	T	C43048825T	BRCA1	NM_007294.3(BRCA1):c.5406+296G>A	noncoding	Benign
17	43049053	A	G	A43049053G	BRCA1	NM_007294.3(BRCA1):c.5406+68T>C	noncoding	Benign
17	43049088	T	A	T43049088A	BRCA1	NM_007294.4(BRCA1):c.5406+33A>T	noncoding	Benign
17	43049113	A	G	A43049113G	BRCA1	NM_007294.4(BRCA1):c.5406+8T>C	noncoding	Benign
17	43049116	C	G	C43049116G	BRCA1	NM_007294.3(BRCA1):c.5406+5G>C	noncoding	Pathogenic/Likely_pathogenic
17	43049116	C	T	C43049116T	BRCA1	NM_007294.3(BRCA1):c.5406+5G>A	noncoding	Pathogenic
17	43049117	T	C	T43049117C	BRCA1	NM_007294.3(BRCA1):c.5406+4A>G	noncoding	Pathogenic/Likely_pathogenic
17	43049118	T	A	T43049118A	BRCA1	NM_007294.3(BRCA1):c.5406+3A>T	noncoding	Pathogenic
17	43049120	C	T	C43049120T	BRCA1	NM_007294.3(BRCA1):c.5406+1G>A	noncoding	Pathogenic
17	43049125	C	T	C43049125T	BRCA1	NM_007294.4(BRCA1):c.5402G>A:p.Gly1801Asp	coding	Benign/Likely_benign
17	43049137	G	C	G43049137C	BRCA1	NM_007294.4(BRCA1):c.5390C>G:p.Ser1797Ter	coding	Pathogenic
17	43049137	G	T	G43049137T	BRCA1	NM_007294.4(BRCA1):c.5390C>A:p.Ser1797Ter	coding	Pathogenic
17	43049140	G	C	G43049140C	BRCA1	NM_007294.4(BRCA1):c.5387C>G:p.Ser1796Ter	coding	Pathogenic
17	43049140	G	T	G43049140T	BRCA1	NM_007294.4(BRCA1):c.5387C>A:p.Ser1796Ter	coding	Pathogenic
17	43049147	C	A	C43049147A	BRCA1	NM_007294.4(BRCA1):c.5380G>T:p.Glu1794Ter	coding	Pathogenic
17	43049150	T	A	T43049150A	BRCA1	NM_007294.4(BRCA1):c.5377A>T:p.Lys1793Ter	coding	Pathogenic
17	43049164	C	A	C43049164A	BRCA1	NM_007294.4(BRCA1):c.5363G>T:p.Gly1788Val	coding	Pathogenic
17	43049174	G	A	G43049174A	BRCA1	NM_007294.4(BRCA1):c.5353C>T:p.Gln1785Ter	coding	Pathogenic
17	43049181	C	T	C43049181T	BRCA1	NM_007294.4(BRCA1):c.5346G>A:p.Trp1782Ter	coding	Pathogenic
17	43049182	C	T	C43049182T	BRCA1	NM_007294.4(BRCA1):c.5345G>A:p.Trp1782Ter	coding	Pathogenic
17	43049186	C	A	C43049186A	BRCA1	NM_007294.4(BRCA1):c.5341G>T:p.Glu1781Ter	coding	Pathogenic
17	43049188	A	G	A43049188G	BRCA1	NM_007294.4(BRCA1):c.5339T>C:p.Leu1780Pro	coding	Pathogenic/Likely_pathogenic
17	43049192	G	A	G43049192A	BRCA1	NM_007294.4(BRCA1):c.5335C>T:p.Gln1779Ter	coding	Pathogenic
17	43049194	T	C	T43049194C	BRCA1	NM_007294.4(BRCA1):c.5333A>G:p.Asp1778Gly	coding	Benign/Likely_benign
17	43049195	C	A	C43049195A	BRCA1	NM_007294.3(BRCA1):c.5333-1G>T	coding	Pathogenic
17	43049195	C	G	C43049195G	BRCA1	NM_007294.3(BRCA1):c.5333-1G>C	coding	Pathogenic/Likely_pathogenic
17	43049195	C	T	C43049195T	BRCA1	NM_007294.3(BRCA1):c.5333-1G>A	coding	Pathogenic/Likely_pathogenic
17	43049196	T	G	T43049196G	BRCA1	NM_007294.3(BRCA1):c.5333-2A>C	noncoding	Pathogenic
17	43049197	A	C	A43049197C	BRCA1	NM_007294.3(BRCA1):c.5333-3T>G	noncoding	Pathogenic
17	43049328	G	T	G43049328T	BRCA1	NM_007294.3(BRCA1):c.5333-134C>A	noncoding	Benign
17	43049347	T	C	T43049347C	BRCA1	NM_007294.3(BRCA1):c.5333-153A>G	noncoding	Benign
17	43049415	G	T	G43049415T	BRCA1	NM_007294.3(BRCA1):c.5333-221C>A	noncoding	Benign
17	43049448	T	C	T43049448C	BRCA1	NM_007294.3(BRCA1):c.5333-254A>G	noncoding	Benign
17	43049498	C	T	C43049498T	BRCA1	NM_007294.3(BRCA1):c.5333-304G>A	noncoding	Benign
17	43049685	C	T	C43049685T	BRCA1	NM_007294.3(BRCA1):c.5333-491G>A	noncoding	Benign
17	43050671	G	A	G43050671A	BRCA1	NM_007294.3(BRCA1):c.5332+392C>T	noncoding	Benign
17	43050878	T	G	T43050878G	BRCA1	NM_007294.3(BRCA1):c.5332+185A>C	noncoding	Benign
17	43051044	G	A	G43051044A	BRCA1	NM_007294.3(BRCA1):c.5332+19C>T	noncoding	Benign/Likely_benign
17	43051050	C	A	C43051050A	BRCA1	NM_007294.4(BRCA1):c.5332+13G>T	noncoding	Benign/Likely_benign
17	43051061	A	C	A43051061C	BRCA1	NM_007294.3(BRCA1):c.5332+2T>G	noncoding	Pathogenic
17	43051061	A	G	A43051061G	BRCA1	NM_007294.3(BRCA1):c.5332+2T>C	noncoding	Pathogenic
17	43051061	A	T	A43051061T	BRCA1	NM_007294.3(BRCA1):c.5332+2T>A	noncoding	Pathogenic/Likely_pathogenic
17	43051062	C	A	C43051062A	BRCA1	NM_007294.3(BRCA1):c.5332+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	43051062	C	G	C43051062G	BRCA1	NM_007294.3(BRCA1):c.5332+1G>C	noncoding	Pathogenic/Likely_pathogenic
17	43051062	C	T	C43051062T	BRCA1	NM_007294.3(BRCA1):c.5332+1G>A	noncoding	Pathogenic
17	43051071	A	C	A43051071C	BRCA1	NM_007294.4(BRCA1):c.5324T>G:p.Met1775Arg	coding	Pathogenic
17	43051071	A	T	A43051071T	BRCA1	NM_007294.4(BRCA1):c.5324T>A:p.Met1775Lys	coding	Pathogenic
17	43051086	C	A	C43051086A	BRCA1	NM_007294.4(BRCA1):c.5309G>T:p.Gly1770Val	coding	Pathogenic
17	43051088	A	T	A43051088T	BRCA1	NM_007294.4(BRCA1):c.5307T>A:p.Tyr1769Ter	coding	Pathogenic
17	43051094	A	T	A43051094T	BRCA1	NM_007294.4(BRCA1):c.5301T>A:p.Cys1767Ter	coding	Pathogenic
17	43051098	A	C	A43051098C	BRCA1	NM_007294.4(BRCA1):c.5297T>G:p.Ile1766Ser	coding	Pathogenic
17	43051098	A	T	A43051098T	BRCA1	NM_007294.4(BRCA1):c.5297T>A:p.Ile1766Asn	coding	Pathogenic
17	43051102	C	A	C43051102A	BRCA1	NM_007294.4(BRCA1):c.5293G>T:p.Glu1765Ter	coding	Pathogenic
17	43051104	A	G	A43051104G	BRCA1	NM_007294.4(BRCA1):c.5291T>C:p.Leu1764Pro	coding	Pathogenic
17	43051118	C	A	C43051118A	BRCA1	NM_007294.3(BRCA1):c.5278-1G>T	coding	Pathogenic
17	43051118	C	G	C43051118G	BRCA1	NM_007294.4(BRCA1):c.5278-1G>C	coding	Pathogenic
17	43051118	C	T	C43051118T	BRCA1	NM_007294.3(BRCA1):c.5278-1G>A	coding	Pathogenic
17	43051119	T	C	T43051119C	BRCA1	NM_007294.4(BRCA1):c.5278-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43051131	G	C	G43051131C	BRCA1	NM_007294.3(BRCA1):c.5278-14C>G	noncoding	Benign
17	43051308	T	A	T43051308A	BRCA1	NM_007294.3(BRCA1):c.5278-191A>T	noncoding	Benign
17	43051574	T	C	T43051574C	BRCA1	NM_007294.3(BRCA1):c.5278-457A>G	noncoding	Benign
17	43051581	C	T	C43051581T	BRCA1	NM_007294.3(BRCA1):c.5278-464G>A	noncoding	Benign
17	43051983	C	G	C43051983G	BRCA1	NM_007294.3(BRCA1):c.5278-866G>C	noncoding	Benign
17	43052001	T	C	T43052001C	BRCA1	NM_007294.3(BRCA1):c.5278-884A>G	noncoding	Benign
17	43052188	C	T	C43052188T	BRCA1	NM_007294.3(BRCA1):c.5278-1071G>A	noncoding	Benign
17	43052636	T	C	T43052636C	BRCA1	NM_007294.3(BRCA1):c.5278-1519A>G	noncoding	Benign
17	43052761	T	C	T43052761C	BRCA1	NM_007294.3(BRCA1):c.5278-1644A>G	noncoding	Benign
17	43052839	G	A	G43052839A	BRCA1	NM_007294.3(BRCA1):c.5278-1722C>T	noncoding	Benign
17	43054039	T	C	T43054039C	BRCA1	NM_007294.3(BRCA1):c.5278-2922A>G	noncoding	Benign
17	43054080	C	T	C43054080T	BRCA1	NM_007294.3(BRCA1):c.5278-2963G>A	noncoding	Benign
17	43054114	A	G	A43054114G	BRCA1	NM_007294.3(BRCA1):c.5277+2938T>C	noncoding	Benign
17	43056737	A	G	A43056737G	BRCA1	NM_007294.3(BRCA1):c.5277+315T>C	noncoding	Benign
17	43056866	A	G	A43056866G	BRCA1	NM_007294.3(BRCA1):c.5277+186T>C	noncoding	Benign
17	43056974	C	T	C43056974T	BRCA1	NM_007294.3(BRCA1):c.5277+78G>A	noncoding	Benign
17	43057051	C	A	C43057051A	BRCA1	NM_007294.3(BRCA1):c.5277+1G>T	noncoding	Pathogenic
17	43057051	C	T	C43057051T	BRCA1	NM_007294.4(BRCA1):c.5277+1G>A	noncoding	Pathogenic
17	43057063	G	A	G43057063A	BRCA1	NM_007294.4(BRCA1):c.5266C>T:p.Gln1756Ter	coding	Pathogenic
17	43057069	C	A	C43057069A	BRCA1	NM_007294.4(BRCA1):c.5260G>T:p.Glu1754Ter	coding	Pathogenic
17	43057077	C	T	C43057077T	BRCA1	NM_007294.4(BRCA1):c.5252G>A:p.Arg1751Gln	coding	Benign
17	43057078	G	A	G43057078A	BRCA1	NM_007294.4(BRCA1):c.5251C>T:p.Arg1751Ter	coding	Pathogenic
17	43057081	T	A	T43057081A	BRCA1	NM_007294.4(BRCA1):c.5248A>T:p.Lys1750Ter	coding	Pathogenic
17	43057083	G	C	G43057083C	BRCA1	NM_007294.4(BRCA1):c.5246C>G:p.Pro1749Arg	coding	Pathogenic
17	43057090	G	A	G43057090A	BRCA1	NM_007294.4(BRCA1):c.5239C>T:p.Gln1747Ter	coding	Pathogenic
17	43057102	C	A	C43057102A	BRCA1	NM_007294.4(BRCA1):c.5227G>T:p.Gly1743Ter	coding	Pathogenic
17	43057116	C	A	C43057116A	BRCA1	NM_007294.4(BRCA1):c.5213G>T:p.Gly1738Val	coding	Pathogenic
17	43057116	C	T	C43057116T	BRCA1	NM_007294.4(BRCA1):c.5213G>A:p.Gly1738Glu	coding	Pathogenic/Likely_pathogenic
17	43057117	C	A	C43057117A	BRCA1	NM_007294.4(BRCA1):c.5212G>T:p.Gly1738Ter	coding	Pathogenic
17	43057117	C	G	C43057117G	BRCA1	NM_007294.4(BRCA1):c.5212G>C:p.Gly1738Arg	coding	Pathogenic
17	43057117	C	T	C43057117T	BRCA1	NM_007294.4(BRCA1):c.5212G>A:p.Gly1738Arg	coding	Pathogenic
17	43057120	T	A	T43057120A	BRCA1	NM_007294.4(BRCA1):c.5209A>T:p.Arg1737Ter	coding	Pathogenic
17	43057122	A	C	A43057122C	BRCA1	NM_007294.4(BRCA1):c.5207T>G:p.Val1736Gly	coding	Pathogenic/Likely_pathogenic
17	43057122	A	G	A43057122G	BRCA1	NM_007294.4(BRCA1):c.5207T>C:p.Val1736Ala	coding	Pathogenic
17	43057131	T	C	T43057131C	BRCA1	NM_007294.4(BRCA1):c.5198A>G:p.Asp1733Gly	coding	Benign
17	43057136	C	A	C43057136A	BRCA1	NM_007294.3(BRCA1):c.5194-1G>T	coding	Pathogenic
17	43057136	C	G	C43057136G	BRCA1	NM_007294.3(BRCA1):c.5194-1G>C	coding	Pathogenic
17	43057136	C	T	C43057136T	BRCA1	NM_007294.3(BRCA1):c.5194-1G>A	coding	Pathogenic
17	43057137	T	C	T43057137C	BRCA1	NM_007294.4(BRCA1):c.5194-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43057147	C	T	C43057147T	BRCA1	NM_007294.3(BRCA1):c.5194-12G>A	noncoding	Pathogenic
17	43058585	T	C	T43058585C	BRCA1	NM_007294.3(BRCA1):c.5194-1450A>G	noncoding	Benign
17	43059636	A	G	A43059636G	BRCA1	NM_007294.3(BRCA1):c.5194-2501T>C	noncoding	Benign
17	43061301	C	T	C43061301T	BRCA1	NM_007294.3(BRCA1):c.5193+2032G>A	noncoding	Benign
17	43061979	C	T	C43061979T	BRCA1	NM_007294.3(BRCA1):c.5193+1354G>A	noncoding	Benign
17	43062062	T	C	T43062062C	BRCA1	NM_007294.3(BRCA1):c.5193+1271A>G	noncoding	Benign
17	43062603	T	A	T43062603A	BRCA1	NM_007294.3(BRCA1):c.5193+730A>T	noncoding	Benign
17	43063331	A	C	A43063331C	BRCA1	NM_007294.3(BRCA1):c.5193+2T>G	noncoding	Pathogenic
17	43063332	C	A	C43063332A	BRCA1	NM_007294.4(BRCA1):c.5193+1G>T	noncoding	Pathogenic
17	43063332	C	G	C43063332G	BRCA1	NM_007294.3(BRCA1):c.5193+1G>C	noncoding	Pathogenic
17	43063332	C	T	C43063332T	BRCA1	NM_007294.3(BRCA1):c.5193+1G>A	noncoding	Pathogenic
17	43063335	C	A	C43063335A	BRCA1	NM_007294.4(BRCA1):c.5191G>T:p.Glu1731Ter	coding	Pathogenic
17	43063347	T	A	T43063347A	BRCA1	NM_007294.4(BRCA1):c.5179A>T:p.Lys1727Ter	coding	Pathogenic
17	43063350	T	A	T43063350A	BRCA1	NM_007294.4(BRCA1):c.5176A>T:p.Arg1726Ter	coding	Pathogenic
17	43063350	T	C	T43063350C	BRCA1	NM_007294.4(BRCA1):c.5176A>G:p.Arg1726Gly	coding	Benign/Likely_benign
17	43063353	C	A	C43063353A	BRCA1	NM_007294.4(BRCA1):c.5173G>T:p.Glu1725Ter	coding	Pathogenic
17	43063361	G	A	G43063361A	BRCA1	NM_007294.4(BRCA1):c.5165C>T:p.Ser1722Phe	coding	Pathogenic/Likely_pathogenic
17	43063365	G	A	G43063365A	BRCA1	NM_007294.4(BRCA1):c.5161C>T:p.Gln1721Ter	coding	Pathogenic
17	43063368	T	C	T43063368C	BRCA1	NM_007294.4(BRCA1):c.5158A>G:p.Thr1720Ala	coding	Benign
17	43063372	C	T	C43063372T	BRCA1	NM_007294.4(BRCA1):c.5154G>A:p.Trp1718Ter	coding	Pathogenic
17	43063373	C	T	C43063373T	BRCA1	NM_007294.4(BRCA1):c.5153G>A:p.Trp1718Ter	coding	Pathogenic
17	43063374	C	G	C43063374G	BRCA1	NM_007294.3(BRCA1):c.5153-1G>C	coding	Pathogenic
17	43063374	C	T	C43063374T	BRCA1	NM_007294.4(BRCA1):c.5153-1G>A	coding	Pathogenic
17	43063375	T	C	T43063375C	BRCA1	NM_007294.3(BRCA1):c.5153-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43063379	G	T	G43063379T	BRCA1	NM_007294.3(BRCA1):c.5153-6C>A	noncoding	Benign
17	43063386	T	C	T43063386C	BRCA1	NM_007294.3(BRCA1):c.5153-13A>G	noncoding	Benign
17	43063808	C	T	C43063808T	BRCA1	NM_007294.3(BRCA1):c.5152+66G>A	noncoding	Benign
17	43063854	A	T	A43063854T	BRCA1	NM_007294.3(BRCA1):c.5152+20T>A	noncoding	Benign/Likely_benign
17	43063864	T	C	T43063864C	BRCA1	NM_007294.3(BRCA1):c.5152+10A>G	noncoding	Benign/Likely_benign
17	43063869	C	G	C43063869G	BRCA1	NM_007294.3(BRCA1):c.5152+5G>C	noncoding	Pathogenic
17	43063869	C	T	C43063869T	BRCA1	NM_007294.3(BRCA1):c.5152+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	43063871	T	G	T43063871G	BRCA1	NM_007294.3(BRCA1):c.5152+3A>C	noncoding	Pathogenic
17	43063872	A	C	A43063872C	BRCA1	NM_007294.3(BRCA1):c.5152+2T>G	noncoding	Pathogenic
17	43063872	A	T	A43063872T	BRCA1	NM_007294.3(BRCA1):c.5152+2T>A	noncoding	Pathogenic
17	43063873	C	A	C43063873A	BRCA1	NM_007294.3(BRCA1):c.5152+1G>T	noncoding	Pathogenic
17	43063873	C	G	C43063873G	BRCA1	NM_007294.3(BRCA1):c.5152+1G>C	noncoding	Pathogenic
17	43063873	C	T	C43063873T	BRCA1	NM_007294.3(BRCA1):c.5152+1G>A	noncoding	Pathogenic
17	43063878	A	C	A43063878C	BRCA1	NM_007294.4(BRCA1):c.5148T>G:p.Tyr1716Ter	coding	Pathogenic
17	43063878	A	T	A43063878T	BRCA1	NM_007294.4(BRCA1):c.5148T>A:p.Tyr1716Ter	coding	Pathogenic
17	43063881	G	C	G43063881C	BRCA1	NM_007294.4(BRCA1):c.5145C>G:p.Ser1715Arg	coding	Pathogenic
17	43063882	C	T	C43063882T	BRCA1	NM_007294.4(BRCA1):c.5144G>A:p.Ser1715Asn	coding	Pathogenic
17	43063883	T	G	T43063883G	BRCA1	NM_007294.4(BRCA1):c.5143A>C:p.Ser1715Arg	coding	Pathogenic
17	43063890	C	T	C43063890T	BRCA1	NM_007294.4(BRCA1):c.5136G>A:p.Trp1712Ter	coding	Pathogenic
17	43063891	C	T	C43063891T	BRCA1	NM_007294.4(BRCA1):c.5135G>A:p.Trp1712Ter	coding	Pathogenic
17	43063895	T	A	T43063895A	BRCA1	NM_007294.4(BRCA1):c.5131A>T:p.Lys1711Ter	coding	Pathogenic
17	43063898	C	A	C43063898A	BRCA1	NM_007294.4(BRCA1):c.5128G>T:p.Gly1710Ter	coding	Pathogenic
17	43063903	G	T	G43063903T	BRCA1	NM_007294.4(BRCA1):c.5123C>A:p.Ala1708Glu	coding	Pathogenic
17	43063909	C	G	C43063909G	BRCA1	NM_007294.4(BRCA1):c.5117G>C:p.Gly1706Ala	coding	Benign
17	43063909	C	T	C43063909T	BRCA1	NM_007294.4(BRCA1):c.5117G>A:p.Gly1706Glu	coding	Pathogenic
17	43063910	C	T	C43063910T	BRCA1	NM_007294.4(BRCA1):c.5116G>A:p.Gly1706Arg	coding	Pathogenic/Likely_pathogenic
17	43063912	A	G	A43063912G	BRCA1	NM_007294.4(BRCA1):c.5114T>C:p.Leu1705Pro	coding	Pathogenic/Likely_pathogenic
17	43063917	A	C	A43063917C	BRCA1	NM_007294.4(BRCA1):c.5109T>G:p.Tyr1703Ter	coding	Pathogenic
17	43063929	C	T	C43063929T	BRCA1	NM_007294.4(BRCA1):c.5097G>A:p.Arg1699=	coding	Benign
17	43063930	C	T	C43063930T	BRCA1	NM_007294.4(BRCA1):c.5096G>A:p.Arg1699Gln	coding	Pathogenic
17	43063931	G	A	G43063931A	BRCA1	NM_007294.4(BRCA1):c.5095C>T:p.Arg1699Trp	coding	Pathogenic
17	43063937	A	G	A43063937G	BRCA1	NM_007294.4(BRCA1):c.5089T>C:p.Cys1697Arg	coding	Pathogenic
17	43063946	C	A	C43063946A	BRCA1	NM_007294.4(BRCA1):c.5080G>T:p.Glu1694Ter	coding	Pathogenic
17	43063952	C	G	C43063952G	BRCA1	NM_007294.3(BRCA1):c.5075-1G>C	coding	Pathogenic
17	43063952	C	T	C43063952T	BRCA1	NM_007294.4(BRCA1):c.5075-1G>A	coding	Pathogenic/Likely_pathogenic
17	43063953	T	A	T43063953A	BRCA1	NM_007294.3(BRCA1):c.5075-2A>T	noncoding	Pathogenic
17	43063953	T	C	T43063953C	BRCA1	NM_007294.3(BRCA1):c.5075-2A>G	noncoding	Pathogenic
17	43063953	T	G	T43063953G	BRCA1	NM_007294.4(BRCA1):c.5075-2A>C	noncoding	Pathogenic
17	43063959	A	C	A43063959C	BRCA1	NM_007294.3(BRCA1):c.5075-8T>G	noncoding	Pathogenic
17	43063960	T	A	T43063960A	BRCA1	NM_007294.3(BRCA1):c.5075-9A>T	noncoding	Benign/Likely_benign
17	43064004	G	A	G43064004A	BRCA1	NM_007294.3(BRCA1):c.5075-53C>T	noncoding	Benign
17	43064188	G	T	G43064188T	BRCA1	NM_007294.3(BRCA1):c.5075-237C>A	noncoding	Benign
17	43064189	T	C	T43064189C	BRCA1	NM_007294.3(BRCA1):c.5075-238A>G	noncoding	Benign
17	43064324	G	A	G43064324A	BRCA1	NM_007294.3(BRCA1):c.5075-373C>T	noncoding	Benign
17	43064327	G	A	G43064327A	BRCA1	NM_007294.3(BRCA1):c.5075-376C>T	noncoding	Benign
17	43064696	T	A	T43064696A	BRCA1	NM_007294.3(BRCA1):c.5075-745A>T	noncoding	Benign
17	43065363	A	G	A43065363G	BRCA1	NM_007294.3(BRCA1):c.5075-1412T>C	noncoding	Benign
17	43065857	C	T	C43065857T	BRCA1	NM_007294.3(BRCA1):c.5074+1751G>A	noncoding	Benign
17	43065990	T	C	T43065990C	BRCA1	NM_007294.3(BRCA1):c.5074+1618A>G	noncoding	Benign
17	43066220	T	C	T43066220C	BRCA1	NM_007294.3(BRCA1):c.5074+1388A>G	noncoding	Benign
17	43066316	G	A	G43066316A	BRCA1	NM_007294.3(BRCA1):c.5074+1292C>T	noncoding	Benign
17	43066355	A	G	A43066355G	BRCA1	NM_007294.3(BRCA1):c.5074+1253T>C	noncoding	Benign
17	43066409	G	C	G43066409C	BRCA1	NM_007294.3(BRCA1):c.5074+1199C>G	noncoding	Benign
17	43066598	A	C	A43066598C	BRCA1	NM_007294.3(BRCA1):c.5074+1010T>G	noncoding	Benign
17	43066730	C	T	C43066730T	BRCA1	NM_007294.3(BRCA1):c.5074+878G>A	noncoding	Benign
17	43066788	A	G	A43066788G	BRCA1	NM_007294.3(BRCA1):c.5074+820T>C	noncoding	Benign
17	43067602	G	C	G43067602C	BRCA1	NM_007294.4(BRCA1):c.5074+6C>G	noncoding	Benign
17	43067605	T	C	T43067605C	BRCA1	NM_007294.4(BRCA1):c.5074+3A>G	noncoding	Pathogenic/Likely_pathogenic
17	43067606	A	G	A43067606G	BRCA1	NM_007294.4(BRCA1):c.5074+2T>C	noncoding	Pathogenic
17	43067607	C	A	C43067607A	BRCA1	NM_007294.4(BRCA1):c.5074+1G>T	noncoding	Pathogenic
17	43067607	C	G	C43067607G	BRCA1	NM_007294.3(BRCA1):c.5074+1G>C	noncoding	Pathogenic
17	43067607	C	T	C43067607T	BRCA1	NM_007294.3(BRCA1):c.5074+1G>A	noncoding	Pathogenic
17	43067608	C	A	C43067608A	BRCA1	NM_007294.4(BRCA1):c.5074G>T:p.Asp1692Tyr	coding	Pathogenic
17	43067608	C	G	C43067608G	BRCA1	NM_007294.4(BRCA1):c.5074G>C:p.Asp1692His	coding	Pathogenic
17	43067608	C	T	C43067608T	BRCA1	NM_007294.4(BRCA1):c.5074G>A:p.Asp1692Asn	coding	Pathogenic/Likely_pathogenic
17	43067609	T	A	T43067609A	BRCA1	NM_007294.4(BRCA1):c.5073A>T:p.Thr1691=	coding	Pathogenic
17	43067614	T	A	T43067614A	BRCA1	NM_007294.4(BRCA1):c.5068A>T:p.Lys1690Ter	coding	Pathogenic
17	43067616	A	C	A43067616C	BRCA1	NM_007294.4(BRCA1):c.5066T>G:p.Met1689Arg	coding	Pathogenic/Likely_pathogenic
17	43067625	T	C	T43067625C	BRCA1	NM_007294.4(BRCA1):c.5057A>G:p.His1686Arg	coding	Pathogenic/Likely_pathogenic
17	43067628	G	A	G43067628A	BRCA1	NM_007294.4(BRCA1):c.5054C>T:p.Thr1685Ile	coding	Pathogenic
17	43067629	T	C	T43067629C	BRCA1	NM_007294.4(BRCA1):c.5053A>G:p.Thr1685Ala	coding	Pathogenic
17	43067635	C	A	C43067635A	BRCA1	NM_007294.4(BRCA1):c.5047G>T:p.Glu1683Ter	coding	Pathogenic
17	43067638	C	T	C43067638T	BRCA1	NM_007294.4(BRCA1):c.5044G>A:p.Glu1682Lys	coding	Benign
17	43067655	A	C	A43067655C	BRCA1	NM_007294.4(BRCA1):c.5027T>G:p.Leu1676Ter	coding	Pathogenic
17	43067655	A	T	A43067655T	BRCA1	NM_007294.4(BRCA1):c.5027T>A:p.Leu1676Ter	coding	Pathogenic
17	43067658	G	A	G43067658A	BRCA1	NM_007294.4(BRCA1):c.5024C>T:p.Thr1675Ile	coding	Benign
17	43067683	T	A	T43067683A	BRCA1	NM_007294.4(BRCA1):c.4999A>T:p.Lys1667Ter	coding	Pathogenic
17	43067684	G	T	G43067684T	BRCA1	NM_007294.4(BRCA1):c.4998C>A:p.Tyr1666Ter	coding	Pathogenic
17	43067690	G	A	G43067690A	BRCA1	NM_007294.4(BRCA1):c.4992C>T:p.Leu1664=	coding	Benign
17	43067691	A	G	A43067691G	BRCA1	NM_007294.4(BRCA1):c.4991T>C:p.Leu1664Pro	coding	Benign
17	43067696	C	A	C43067696A	BRCA1	NM_007294.3(BRCA1):c.4987-1G>T	coding	Pathogenic
17	43067696	C	T	C43067696T	BRCA1	NM_007299.4(BRCA1):c.1675-1G>A	coding	Pathogenic
17	43067697	T	C	T43067697C	BRCA1	NM_007294.3(BRCA1):c.4987-2A>G	noncoding	Pathogenic
17	43067697	T	G	T43067697G	BRCA1	NM_007294.3(BRCA1):c.4987-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	43067700	A	T	A43067700T	BRCA1	NM_007294.3(BRCA1):c.4987-5T>A	noncoding	Pathogenic
17	43067715	T	C	T43067715C	BRCA1	NM_007294.4(BRCA1):c.4987-20A>G	noncoding	Benign
17	43067763	T	C	T43067763C	BRCA1	NM_007294.4(BRCA1):c.4987-68A>G	noncoding	Benign
17	43067787	T	C	T43067787C	BRCA1	NM_007294.3(BRCA1):c.4987-92A>G	noncoding	Benign
17	43068206	A	G	A43068206G	BRCA1	NM_007294.3(BRCA1):c.4987-511T>C	noncoding	Benign
17	43068271	C	T	C43068271T	BRCA1	NM_007294.3(BRCA1):c.4987-576G>A	noncoding	Benign
17	43068303	C	A	C43068303A	BRCA1	NM_007294.3(BRCA1):c.4987-608G>T	noncoding	Benign
17	43068755	C	T	C43068755T	BRCA1	NM_007294.3(BRCA1):c.4987-1060G>A	noncoding	Benign
17	43069161	C	T	C43069161T	BRCA1	NM_007294.3(BRCA1):c.4987-1466G>A	noncoding	Benign
17	43069579	C	A	C43069579A	BRCA1	NM_007294.3(BRCA1):c.4986+1349G>T	noncoding	Benign
17	43070082	C	T	C43070082T	BRCA1	NM_007294.3(BRCA1):c.4986+846G>A	noncoding	Benign
17	43070444	T	A	T43070444A	BRCA1	NM_007294.3(BRCA1):c.4986+484A>T	noncoding	Benign
17	43070445	A	G	A43070445G	BRCA1	NM_007294.3(BRCA1):c.4986+483T>C	noncoding	Benign
17	43070706	T	C	T43070706C	BRCA1	NM_007294.3(BRCA1):c.4986+222A>G	noncoding	Benign
17	43070922	A	C	A43070922C	BRCA1	NM_007294.4(BRCA1):c.4986+6T>G	noncoding	Pathogenic
17	43070922	A	G	A43070922G	BRCA1	NM_007294.4(BRCA1):c.4986+6T>C	noncoding	Pathogenic/Likely_pathogenic
17	43070923	C	G	C43070923G	BRCA1	NM_007294.3(BRCA1):c.4986+5G>C	noncoding	Pathogenic
17	43070923	C	T	C43070923T	BRCA1	NM_007294.3(BRCA1):c.4986+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	43070924	T	A	T43070924A	BRCA1	NM_007294.3(BRCA1):c.4986+4A>T	noncoding	Pathogenic/Likely_pathogenic
17	43070924	T	G	T43070924G	BRCA1	NM_007294.4(BRCA1):c.4986+4A>C	noncoding	Pathogenic/Likely_pathogenic
17	43070925	C	G	C43070925G	BRCA1	NM_007294.4(BRCA1):c.4986+3G>C	noncoding	Pathogenic/Likely_pathogenic
17	43070926	A	G	A43070926G	BRCA1	NM_007294.3(BRCA1):c.4986+2T>C	noncoding	Pathogenic
17	43070927	C	A	C43070927A	BRCA1	NM_007294.3(BRCA1):c.4986+1G>T	noncoding	Pathogenic
17	43070927	C	T	C43070927T	BRCA1	NM_007294.3(BRCA1):c.4986+1G>A	noncoding	Pathogenic
17	43070929	A	G	A43070929G	BRCA1	NM_007294.4(BRCA1):c.4985T>C:p.Phe1662Ser	coding	Benign
17	43070933	C	A	C43070933A	BRCA1	NM_007294.4(BRCA1):c.4981G>T:p.Glu1661Ter	coding	Pathogenic
17	43070950	G	A	G43070950A	BRCA1	NM_007294.4(BRCA1):c.4964C>T:p.Ser1655Phe	coding	Pathogenic/Likely_pathogenic
17	43070958	C	T	C43070958T	BRCA1	NM_007294.4(BRCA1):c.4956G>A:p.Met1652Ile	coding	Benign
17	43070959	A	G	A43070959G	BRCA1	NM_007294.4(BRCA1):c.4955T>C:p.Met1652Thr	coding	Benign
17	43070972	T	A	T43070972A	BRCA1	NM_007294.4(BRCA1):c.4942A>T:p.Lys1648Ter	coding	Pathogenic
17	43070984	C	A	C43070984A	BRCA1	NM_007294.4(BRCA1):c.4930G>T:p.Glu1644Ter	coding	Pathogenic
17	43071004	G	A	G43071004A	BRCA1	NM_007294.4(BRCA1):c.4910C>T:p.Pro1637Leu	coding	Benign
17	43071011	C	A	C43071011A	BRCA1	NM_007294.4(BRCA1):c.4903G>T:p.Glu1635Ter	coding	Pathogenic
17	43071031	A	G	A43071031G	BRCA1	NM_007294.4(BRCA1):c.4883T>C:p.Met1628Thr	coding	Benign
17	43071039	A	T	A43071039T	BRCA1	NM_007294.4(BRCA1):c.4875T>A:p.Tyr1625Ter	coding	Pathogenic
17	43071046	G	C	G43071046C	BRCA1	NM_007294.4(BRCA1):c.4868C>G:p.Ala1623Gly	coding	Pathogenic/Likely_pathogenic
17	43071074	G	A	G43071074A	BRCA1	NM_007294.4(BRCA1):c.4840C>T:p.Pro1614Ser	coding	Benign
17	43071077	T	A	T43071077A	BRCA1	NM_007294.4(BRCA1):c.4837A>T:p.Ser1613Cys	coding	Benign/Likely_benign
17	43071077	T	C	T43071077C	BRCA1	NM_007294.4(BRCA1):c.4837A>G:p.Ser1613Gly	coding	Benign
17	43071080	G	A	G43071080A	BRCA1	NM_007294.4(BRCA1):c.4834C>T:p.Gln1612Ter	coding	Pathogenic
17	43071098	T	C	T43071098C	BRCA1	NM_007294.4(BRCA1):c.4816A>G:p.Lys1606Glu	coding	Benign
17	43071102	T	C	T43071102C	BRCA1	NM_007294.4(BRCA1):c.4812A>G:p.Gln1604=	coding	Benign
17	43071104	G	A	G43071104A	BRCA1	NM_007294.4(BRCA1):c.4810C>T:p.Gln1604Ter	coding	Pathogenic
17	43071113	T	A	T43071113A	BRCA1	NM_007294.4(BRCA1):c.4801A>T:p.Lys1601Ter	coding	Pathogenic
17	43071127	G	T	G43071127T	BRCA1	NM_007294.4(BRCA1):c.4787C>A:p.Ser1596Ter	coding	Pathogenic
17	43071154	G	C	G43071154C	BRCA1	NM_007294.4(BRCA1):c.4760C>G:p.Ser1587Ter	coding	Pathogenic
17	43071158	C	A	C43071158A	BRCA1	NM_007294.4(BRCA1):c.4756G>T:p.Glu1586Ter	coding	Pathogenic
17	43071173	C	A	C43071173A	BRCA1	NM_007294.4(BRCA1):c.4741G>T:p.Glu1581Ter	coding	Pathogenic
17	43071185	A	G	A43071185G	BRCA1	NM_007294.4(BRCA1):c.4729T>C:p.Ser1577Pro	coding	Benign/Likely_benign
17	43071223	A	G	A43071223G	BRCA1	NM_007294.4(BRCA1):c.4691T>C:p.Leu1564Pro	coding	Benign
17	43071225	G	C	G43071225C	BRCA1	NM_007294.4(BRCA1):c.4689C>G:p.Tyr1563Ter	coding	Pathogenic
17	43071232	G	A	G43071232A	BRCA1	NM_007294.4(BRCA1):c.4682C>T:p.Thr1561Ile	coding	Benign/Likely_benign
17	43071236	C	A	C43071236A	BRCA1	NM_007294.4(BRCA1):c.4678G>T:p.Gly1560Ter	coding	Pathogenic
17	43071239	C	A	C43071239A	BRCA1	NM_007294.3(BRCA1):c.4676-1G>T	coding	Pathogenic
17	43071239	C	T	C43071239T	BRCA1	NM_007294.3(BRCA1):c.4676-1G>A	coding	Pathogenic
17	43071240	T	C	T43071240C	BRCA1	NM_007294.3(BRCA1):c.4676-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43071245	G	A	G43071245A	BRCA1	NM_007294.3(BRCA1):c.4676-7C>T	noncoding	Benign/Likely_benign
17	43071293	G	A	G43071293A	BRCA1	NM_007294.3(BRCA1):c.4676-55C>T	noncoding	Benign
17	43073428	G	A	G43073428A	BRCA1	NM_007294.3(BRCA1):c.4675+903C>T	noncoding	Benign
17	43074226	C	T	C43074226T	BRCA1	NM_007294.3(BRCA1):c.4675+105G>A	noncoding	Benign
17	43074328	T	A	T43074328A	BRCA1	NM_007294.4(BRCA1):c.4675+3A>T	noncoding	Pathogenic
17	43074329	A	G	A43074329G	BRCA1	NM_007294.3(BRCA1):c.4675+2T>C	noncoding	Pathogenic
17	43074329	A	T	A43074329T	BRCA1	NM_007294.4(BRCA1):c.4675+2T>A	noncoding	Pathogenic
17	43074330	C	A	C43074330A	BRCA1	NM_007294.3(BRCA1):c.4675+1G>T	noncoding	Pathogenic
17	43074330	C	G	C43074330G	BRCA1	NM_007294.3(BRCA1):c.4675+1G>C	noncoding	Pathogenic
17	43074330	C	T	C43074330T	BRCA1	NM_007294.4(BRCA1):c.4675+1G>A	noncoding	Pathogenic
17	43074331	C	G	C43074331G	BRCA1	NM_007294.4(BRCA1):c.4675G>C:p.Glu1559Gln	coding	Pathogenic/Likely_pathogenic
17	43074331	C	T	C43074331T	BRCA1	NM_007294.4(BRCA1):c.4675G>A:p.Glu1559Lys	coding	Pathogenic
17	43074340	G	A	G43074340A	BRCA1	NM_007294.4(BRCA1):c.4666C>T:p.Gln1556Ter	coding	Pathogenic
17	43074350	G	C	G43074350C	BRCA1	NM_007294.4(BRCA1):c.4656C>G:p.Tyr1552Ter	coding	Pathogenic
17	43074370	C	A	C43074370A	BRCA1	NM_007294.4(BRCA1):c.4636G>T:p.Asp1546Tyr	coding	Benign
17	43074370	C	T	C43074370T	BRCA1	NM_007294.4(BRCA1):c.4636G>A:p.Asp1546Asn	coding	Benign
17	43074385	C	A	C43074385A	BRCA1	NM_007294.4(BRCA1):c.4621G>T:p.Glu1541Ter	coding	Pathogenic
17	43074388	C	A	C43074388A	BRCA1	NM_007294.4(BRCA1):c.4618G>T:p.Glu1540Ter	coding	Pathogenic
17	43074394	G	A	G43074394A	BRCA1	NM_007294.4(BRCA1):c.4612C>T:p.Gln1538Ter	coding	Pathogenic
17	43074397	G	A	G43074397A	BRCA1	NM_007294.4(BRCA1):c.4609C>T:p.Gln1537Ter	coding	Pathogenic
17	43074400	C	A	C43074400A	BRCA1	NM_007294.4(BRCA1):c.4606G>T:p.Glu1536Ter	coding	Pathogenic
17	43074403	C	A	C43074403A	BRCA1	NM_007294.4(BRCA1):c.4603G>T:p.Glu1535Ter	coding	Pathogenic
17	43074406	C	T	C43074406T	BRCA1	NM_007294.4(BRCA1):c.4600G>A:p.Val1534Met	coding	Benign
17	43074430	C	A	C43074430A	BRCA1	NM_007294.4(BRCA1):c.4576G>T:p.Glu1526Ter	coding	Pathogenic
17	43074433	G	A	G43074433A	BRCA1	NM_007294.4(BRCA1):c.4573C>T:p.Gln1525Ter	coding	Pathogenic
17	43074440	G	C	G43074440C	BRCA1	NM_007294.4(BRCA1):c.4566C>G:p.Tyr1522Ter	coding	Pathogenic
17	43074440	G	T	G43074440T	BRCA1	NM_007294.4(BRCA1):c.4566C>A:p.Tyr1522Ter	coding	Pathogenic
17	43074454	G	A	G43074454A	BRCA1	NM_007294.4(BRCA1):c.4552C>T:p.Gln1518Ter	coding	Pathogenic
17	43074467	G	T	G43074467T	BRCA1	NM_007294.4(BRCA1):c.4539C>A:p.Cys1513Ter	coding	Pathogenic
17	43074471	C	A	C43074471A	BRCA1	NM_007294.4(BRCA1):c.4535G>T:p.Ser1512Ile	coding	Benign
17	43074479	G	T	G43074479T	BRCA1	NM_007294.4(BRCA1):c.4527C>A:p.Tyr1509Ter	coding	Pathogenic
17	43074482	C	T	C43074482T	BRCA1	NM_007294.4(BRCA1):c.4524G>A:p.Trp1508Ter	coding	Pathogenic
17	43074483	C	T	C43074483T	BRCA1	NM_007294.4(BRCA1):c.4523G>A:p.Trp1508Ter	coding	Pathogenic
17	43074486	C	G	C43074486G	BRCA1	NM_007294.4(BRCA1):c.4520G>C:p.Arg1507Thr	coding	Benign
17	43074498	G	C	G43074498C	BRCA1	NM_007294.4(BRCA1):c.4508C>G:p.Ser1503Ter	coding	Pathogenic
17	43074498	G	T	G43074498T	BRCA1	NM_007294.4(BRCA1):c.4508C>A:p.Ser1503Ter	coding	Pathogenic
17	43074503	G	T	G43074503T	BRCA1	NM_007294.4(BRCA1):c.4503C>A:p.Cys1501Ter	coding	Pathogenic
17	43074519	G	C	G43074519C	BRCA1	NM_007294.4(BRCA1):c.4487C>G:p.Ser1496Ter	coding	Pathogenic
17	43074519	G	T	G43074519T	BRCA1	NM_007294.4(BRCA1):c.4487C>A:p.Ser1496Ter	coding	Pathogenic
17	43074522	C	A	C43074522A	BRCA1	NM_007294.4(BRCA1):c.4485-1G>T	coding	Pathogenic
17	43074522	C	G	C43074522G	BRCA1	NM_007294.3(BRCA1):c.4485-1G>C	coding	Pathogenic
17	43074522	C	T	C43074522T	BRCA1	NM_007294.4(BRCA1):c.4485-1G>A	coding	Pathogenic/Likely_pathogenic
17	43074523	T	A	T43074523A	BRCA1	NM_007294.3(BRCA1):c.4485-2A>T	noncoding	Pathogenic/Likely_pathogenic
17	43074523	T	C	T43074523C	BRCA1	NM_007294.4(BRCA1):c.4485-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43074584	G	C	G43074584C	BRCA1	NM_007294.3(BRCA1):c.4485-63C>G	noncoding	Benign
17	43074658	A	T	A43074658T	BRCA1	NM_007294.3(BRCA1):c.4485-137T>A	noncoding	Benign
17	43074861	C	T	C43074861T	BRCA1	NM_007294.3(BRCA1):c.4485-340G>A	noncoding	Benign
17	43076474	T	C	T43076474C	BRCA1	NM_007294.4(BRCA1):c.4484+14A>G	noncoding	Benign
17	43076483	C	G	C43076483G	BRCA1	NM_007294.3(BRCA1):c.4484+5G>C	noncoding	Pathogenic
17	43076486	A	G	A43076486G	BRCA1	NM_007294.3(BRCA1):c.4484+2T>C	noncoding	Pathogenic
17	43076487	C	A	C43076487A	BRCA1	NM_007294.3(BRCA1):c.4484+1G>T	noncoding	Pathogenic
17	43076487	C	T	C43076487T	BRCA1	NM_007294.4(BRCA1):c.4484+1G>A	noncoding	Pathogenic
17	43076488	C	A	C43076488A	BRCA1	NM_007294.4(BRCA1):c.4484G>T:p.Arg1495Met	coding	Pathogenic
17	43076488	C	G	C43076488G	BRCA1	NM_007294.4(BRCA1):c.4484G>C:p.Arg1495Thr	coding	Pathogenic
17	43076488	C	T	C43076488T	BRCA1	NM_007294.4(BRCA1):c.4484G>A:p.Arg1495Lys	coding	Pathogenic/Likely_pathogenic
17	43076492	C	A	C43076492A	BRCA1	NM_007294.4(BRCA1):c.4480G>T:p.Glu1494Ter	coding	Pathogenic
17	43076498	C	A	C43076498A	BRCA1	NM_007294.4(BRCA1):c.4474G>T:p.Gly1492Ter	coding	Pathogenic
17	43076504	C	A	C43076504A	BRCA1	NM_007294.4(BRCA1):c.4468G>T:p.Glu1490Ter	coding	Pathogenic
17	43076540	C	A	C43076540A	BRCA1	NM_007294.4(BRCA1):c.4432G>T:p.Glu1478Ter	coding	Pathogenic
17	43076564	C	A	C43076564A	BRCA1	NM_007294.4(BRCA1):c.4408G>T:p.Glu1470Ter	coding	Pathogenic
17	43076570	T	G	T43076570G	BRCA1	NM_007294.4(BRCA1):c.4402A>C:p.Asn1468His	coding	Benign
17	43076573	G	A	G43076573A	BRCA1	NM_007294.4(BRCA1):c.4399C>T:p.Gln1467Ter	coding	Pathogenic
17	43076583	G	C	G43076583C	BRCA1	NM_007294.4(BRCA1):c.4389C>G:p.Tyr1463Ter	coding	Pathogenic
17	43076583	G	T	G43076583T	BRCA1	NM_007294.4(BRCA1):c.4389C>A:p.Tyr1463Ter	coding	Pathogenic
17	43076597	T	A	T43076597A	BRCA1	NM_007294.4(BRCA1):c.4375A>T:p.Lys1459Ter	coding	Pathogenic
17	43076600	G	A	G43076600A	BRCA1	NM_007294.4(BRCA1):c.4372C>T:p.Gln1458Ter	coding	Pathogenic
17	43076602	G	C	G43076602C	BRCA1	NM_007294.4(BRCA1):c.4370C>G:p.Ser1457Ter	coding	Pathogenic
17	43076602	G	T	G43076602T	BRCA1	NM_007294.4(BRCA1):c.4370C>A:p.Ser1457Ter	coding	Pathogenic
17	43076608	A	C	A43076608C	BRCA1	NM_007294.4(BRCA1):c.4364T>G:p.Leu1455Ter	coding	Pathogenic
17	43076624	G	A	G43076624A	BRCA1	NM_007294.4(BRCA1):c.4358-10C>T	noncoding	Benign/Likely_benign
17	43077369	T	C	T43077369C	BRCA1	NM_007294.3(BRCA1):c.4358-755A>G	noncoding	Benign
17	43078507	T	G	T43078507G	BRCA1	NM_007294.3(BRCA1):c.4358-1893A>C	noncoding	Benign
17	43078520	A	T	A43078520T	BRCA1	NM_007294.3(BRCA1):c.4358-1906T>A	noncoding	Benign
17	43079204	A	C	A43079204C	BRCA1	NM_007294.3(BRCA1):c.4358-2590T>G	noncoding	Benign
17	43079885	G	A	G43079885A	BRCA1	NM_007294.3(BRCA1):c.4357+2519C>T	noncoding	Benign
17	43080091	A	C	A43080091C	BRCA1	NM_007294.3(BRCA1):c.4357+2313T>G	noncoding	Benign
17	43080276	A	G	A43080276G	BRCA1	NM_007294.3(BRCA1):c.4357+2128T>C	noncoding	Benign
17	43080681	C	T	C43080681T	BRCA1	NM_007294.3(BRCA1):c.4357+1723G>A	noncoding	Benign
17	43081018	A	G	A43081018G	BRCA1	NM_007294.3(BRCA1):c.4357+1386T>C	noncoding	Benign
17	43081192	A	G	A43081192G	BRCA1	NM_007294.3(BRCA1):c.4357+1212T>C	noncoding	Benign
17	43081527	G	C	G43081527C	BRCA1	NM_007294.3(BRCA1):c.4357+877C>G	noncoding	Benign
17	43081610	C	T	C43081610T	BRCA1	NM_007294.3(BRCA1):c.4357+794G>A	noncoding	Benign
17	43081753	T	C	T43081753C	BRCA1	NM_007294.3(BRCA1):c.4357+651A>G	noncoding	Benign
17	43082024	T	C	T43082024C	BRCA1	NM_007294.3(BRCA1):c.4357+380A>G	noncoding	Benign
17	43082145	T	C	T43082145C	BRCA1	NM_007294.3(BRCA1):c.4357+259A>G	noncoding	Benign
17	43082287	C	T	C43082287T	BRCA1	NM_007294.3(BRCA1):c.4357+117G>A	noncoding	Benign
17	43082387	T	C	T43082387C	BRCA1	NM_007299.4(BRCA1):c.1048+17A>G	noncoding	Benign/Likely_benign
17	43082398	A	G	A43082398G	BRCA1	NM_007294.3(BRCA1):c.4357+6T>C	noncoding	Pathogenic
17	43082402	A	C	A43082402C	BRCA1	NM_007294.3(BRCA1):c.4357+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	43082402	A	G	A43082402G	BRCA1	NM_007294.3(BRCA1):c.4357+2T>C	noncoding	Pathogenic
17	43082403	C	A	C43082403A	BRCA1	NM_007294.4(BRCA1):c.4357+1G>T	noncoding	Pathogenic
17	43082403	C	T	C43082403T	BRCA1	NM_007294.4(BRCA1):c.4357+1G>A	noncoding	Pathogenic
17	43082407	T	A	T43082407A	BRCA1	NM_007294.4(BRCA1):c.4354A>T:p.Lys1452Ter	coding	Pathogenic
17	43082412	G	C	G43082412C	BRCA1	NM_007294.4(BRCA1):c.4349C>G:p.Ser1450Ter	coding	Pathogenic
17	43082422	G	A	G43082422A	BRCA1	NM_007294.4(BRCA1):c.4339C>T:p.Gln1447Ter	coding	Pathogenic
17	43082434	G	A	G43082434A	BRCA1	NM_007294.4(BRCA1):c.4327C>T:p.Arg1443Ter	coding	Pathogenic
17	43082434	G	C	G43082434C	BRCA1	NM_007294.4(BRCA1):c.4327C>G:p.Arg1443Gly	coding	Benign
17	43082453	A	G	A43082453G	BRCA1	NM_007294.4(BRCA1):c.4308T>C:p.Ser1436=	coding	Benign
17	43082453	A	T	A43082453T	BRCA1	NM_007294.4(BRCA1):c.4308T>A:p.Ser1436=	coding	Benign
17	43082474	G	T	G43082474T	BRCA1	NM_007294.4(BRCA1):c.4287C>A:p.Tyr1429Ter	coding	Pathogenic
17	43082491	G	A	G43082491A	BRCA1	NM_007294.4(BRCA1):c.4270C>T:p.Gln1424Ter	coding	Pathogenic
17	43082503	G	A	G43082503A	BRCA1	NM_007294.4(BRCA1):c.4258C>T:p.Gln1420Ter	coding	Pathogenic
17	43082506	C	A	C43082506A	BRCA1	NM_007294.4(BRCA1):c.4255G>T:p.Glu1419Ter	coding	Pathogenic
17	43082506	C	G	C43082506G	BRCA1	NM_007294.4(BRCA1):c.4255G>C:p.Glu1419Gln	coding	Benign
17	43082508	A	C	A43082508C	BRCA1	NM_007294.4(BRCA1):c.4253T>G:p.Leu1418Ter	coding	Pathogenic
17	43082518	C	A	C43082518A	BRCA1	NM_007294.4(BRCA1):c.4243G>T:p.Glu1415Ter	coding	Pathogenic
17	43082524	C	A	C43082524A	BRCA1	NM_007294.4(BRCA1):c.4237G>T:p.Glu1413Ter	coding	Pathogenic
17	43082533	C	A	C43082533A	BRCA1	NM_007294.4(BRCA1):c.4228G>T:p.Glu1410Ter	coding	Pathogenic
17	43082536	G	A	G43082536A	BRCA1	NM_007294.4(BRCA1):c.4225C>T:p.Gln1409Ter	coding	Pathogenic
17	43082539	G	A	G43082539A	BRCA1	NM_007294.4(BRCA1):c.4222C>T:p.Gln1408Ter	coding	Pathogenic
17	43082545	T	A	T43082545A	BRCA1	NM_007294.4(BRCA1):c.4216A>T:p.Lys1406Ter	coding	Pathogenic
17	43082557	G	A	G43082557A	BRCA1	NM_007294.4(BRCA1):c.4204C>T:p.His1402Tyr	coding	Benign
17	43082560	G	A	G43082560A	BRCA1	NM_007294.4(BRCA1):c.4201C>T:p.Gln1401Ter	coding	Pathogenic
17	43082575	G	A	G43082575A	BRCA1	NM_007294.4(BRCA1):c.4186C>T:p.Gln1396Ter	coding	Pathogenic
17	43083089	A	G	A43083089G	BRCA1	NM_007294.3(BRCA1):c.4186-514T>C	noncoding	Benign
17	43083782	G	A	G43083782A	BRCA1	NM_007294.3(BRCA1):c.4186-1207C>T	noncoding	Benign
17	43083822	T	A	T43083822A	BRCA1	NM_007294.3(BRCA1):c.4186-1247A>T	noncoding	Benign
17	43084625	T	C	T43084625C	BRCA1	NM_007294.3(BRCA1):c.4186-2050A>G	noncoding	Benign
17	43084762	G	A	G43084762A	BRCA1	NM_007294.3(BRCA1):c.4186-2187C>T	noncoding	Benign
17	43085058	T	C	T43085058C	BRCA1	NM_007294.3(BRCA1):c.4186-2483A>G	noncoding	Benign
17	43085427	A	G	A43085427G	BRCA1	NM_007294.3(BRCA1):c.4186-2852T>C	noncoding	Benign
17	43086485	A	G	A43086485G	BRCA1	NM_007294.3(BRCA1):c.4186-3910T>C	noncoding	Benign
17	43086602	C	T	C43086602T	BRCA1	NM_007294.3(BRCA1):c.4186-4027G>A	noncoding	Benign
17	43088260	T	C	T43088260C	BRCA1	NM_007294.3(BRCA1):c.4185+2684A>G	noncoding	Benign
17	43088583	C	T	C43088583T	BRCA1	NM_007294.3(BRCA1):c.4185+2361G>A	noncoding	Benign
17	43088733	G	A	G43088733A	BRCA1	NM_007294.3(BRCA1):c.4185+2211C>T	noncoding	Benign
17	43088898	A	G	A43088898G	BRCA1	NM_007294.3(BRCA1):c.4185+2046T>C	noncoding	Benign
17	43089373	C	A	C43089373A	BRCA1	NM_007294.3(BRCA1):c.4185+1571G>T	noncoding	Benign
17	43089486	T	C	T43089486C	BRCA1	NM_007294.3(BRCA1):c.4185+1458A>G	noncoding	Benign
17	43090832	G	T	G43090832T	BRCA1	NM_007294.3(BRCA1):c.4185+112C>A	noncoding	Benign
17	43090934	C	G	C43090934G	BRCA1	NM_007294.3(BRCA1):c.4185+10G>C	noncoding	Benign
17	43090942	A	G	A43090942G	BRCA1	NM_007294.3(BRCA1):c.4185+2T>C	noncoding	Pathogenic
17	43090942	A	T	A43090942T	BRCA1	NM_007297.4(BRCA1):c.4044+2T>A	noncoding	Pathogenic
17	43090943	C	A	C43090943A	BRCA1	NM_007294.3(BRCA1):c.4185+1G>T	noncoding	Pathogenic
17	43090943	C	T	C43090943T	BRCA1	NM_007294.3(BRCA1):c.4185+1G>A	noncoding	Pathogenic
17	43090944	C	T	C43090944T	BRCA1	NM_007294.4(BRCA1):c.4185G>A:p.Gln1395=	coding	Pathogenic
17	43090946	G	A	G43090946A	BRCA1	NM_007294.4(BRCA1):c.4183C>T:p.Gln1395Ter	coding	Pathogenic
17	43090967	G	A	G43090967A	BRCA1	NM_007294.4(BRCA1):c.4162C>T:p.Gln1388Ter	coding	Pathogenic
17	43090981	G	C	G43090981C	BRCA1	NM_007294.4(BRCA1):c.4148C>G:p.Ser1383Ter	coding	Pathogenic
17	43090983	G	T	G43090983T	BRCA1	NM_007294.4(BRCA1):c.4146C>A:p.Cys1382Ter	coding	Pathogenic
17	43090997	C	T	C43090997T	BRCA1	NM_007294.4(BRCA1):c.4132G>A:p.Val1378Ile	coding	Benign
17	43091006	C	A	C43091006A	BRCA1	NM_007294.4(BRCA1):c.4123G>T:p.Glu1375Ter	coding	Pathogenic
17	43091012	C	A	C43091012A	BRCA1	NM_007294.4(BRCA1):c.4117G>T:p.Glu1373Ter	coding	Pathogenic
17	43091013	A	T	A43091013T	BRCA1	NM_007294.4(BRCA1):c.4116T>A:p.Cys1372Ter	coding	Pathogenic
17	43091030	C	A	C43091030A	BRCA1	NM_007294.4(BRCA1):c.4099G>T:p.Glu1367Ter	coding	Pathogenic
17	43091033	C	T	C43091033T	BRCA1	NM_007294.3(BRCA1):c.4097-1G>A	coding	Pathogenic
17	43091034	T	C	T43091034C	BRCA1	NM_007294.3(BRCA1):c.4097-2A>G	noncoding	Pathogenic
17	43091034	T	G	T43091034G	BRCA1	NM_007294.3(BRCA1):c.4097-2A>C	noncoding	Pathogenic
17	43091042	C	T	C43091042T	BRCA1	NM_007294.3(BRCA1):c.4097-10G>A	noncoding	Benign
17	43091043	A	G	A43091043G	BRCA1	NM_007294.3(BRCA1):c.4097-11T>C	noncoding	Benign
17	43091060	T	C	T43091060C	BRCA1	NM_007294.3(BRCA1):c.4097-28A>G	noncoding	Benign
17	43091173	T	G	T43091173G	BRCA1	NM_007294.3(BRCA1):c.4097-141A>C	noncoding	Benign
17	43091437	A	C	A43091437C	BRCA1	NM_007294.4(BRCA1):c.4094T>G:p.Leu1365Ter	coding	Pathogenic
17	43091443	G	C	G43091443C	BRCA1	NM_007294.4(BRCA1):c.4088C>G:p.Ser1363Ter	coding	Pathogenic
17	43091443	G	T	G43091443T	BRCA1	NM_007294.4(BRCA1):c.4088C>A:p.Ser1363Ter	coding	Pathogenic
17	43091450	T	A	T43091450A	BRCA1	NM_007294.4(BRCA1):c.4081A>T:p.Met1361Leu	coding	Benign
17	43091450	T	G	T43091450G	BRCA1	NM_007294.4(BRCA1):c.4081A>C:p.Met1361Leu	coding	Benign
17	43091456	G	A	G43091456A	BRCA1	NM_007294.4(BRCA1):c.4075C>T:p.Gln1359Ter	coding	Pathogenic
17	43091459	C	A	C43091459A	BRCA1	NM_007294.4(BRCA1):c.4072G>T:p.Glu1358Ter	coding	Pathogenic
17	43091462	C	A	C43091462A	BRCA1	NM_007294.4(BRCA1):c.4069G>T:p.Glu1357Ter	coding	Pathogenic
17	43091465	G	A	G43091465A	BRCA1	NM_007294.4(BRCA1):c.4066C>T:p.Gln1356Ter	coding	Pathogenic
17	43091474	C	A	C43091474A	BRCA1	NM_007294.4(BRCA1):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
17	43091477	C	A	C43091477A	BRCA1	NM_007294.4(BRCA1):c.4054G>T:p.Glu1352Ter	coding	Pathogenic
17	43091479	A	T	A43091479T	BRCA1	NM_007294.4(BRCA1):c.4052T>A:p.Leu1351Ter	coding	Pathogenic
17	43091485	G	A	G43091485A	BRCA1	NM_007294.4(BRCA1):c.4046C>T:p.Thr1349Met	coding	Benign
17	43091489	C	A	C43091489A	BRCA1	NM_007294.4(BRCA1):c.4042G>T:p.Gly1348Ter	coding	Pathogenic
17	43091492	T	A	T43091492A	BRCA1	NM_007294.4(BRCA1):c.4039A>T:p.Arg1347Ter	coding	Pathogenic
17	43091492	T	C	T43091492C	BRCA1	NM_007294.4(BRCA1):c.4039A>G:p.Arg1347Gly	coding	Benign
17	43091498	C	A	C43091498A	BRCA1	NM_007294.4(BRCA1):c.4033G>T:p.Glu1345Ter	coding	Pathogenic
17	43091514	T	C	T43091514C	BRCA1	NM_007294.4(BRCA1):c.4017A>G:p.Glu1339=	coding	Benign
17	43091516	C	A	C43091516A	BRCA1	NM_007294.4(BRCA1):c.4015G>T:p.Glu1339Ter	coding	Pathogenic
17	43091540	G	A	G43091540A	BRCA1	NM_007294.4(BRCA1):c.3991C>T:p.Gln1331Ter	coding	Pathogenic
17	43091552	G	A	G43091552A	BRCA1	NM_007294.4(BRCA1):c.3979C>T:p.Gln1327Ter	coding	Pathogenic
17	43091564	G	A	G43091564A	BRCA1	NM_007294.4(BRCA1):c.3967C>T:p.Gln1323Ter	coding	Pathogenic
17	43091567	T	A	T43091567A	BRCA1	NM_007294.4(BRCA1):c.3964A>T:p.Lys1322Ter	coding	Pathogenic
17	43091573	A	G	A43091573G	BRCA1	NM_007294.4(BRCA1):c.3958T>C:p.Ser1320Pro	coding	Benign
17	43091594	G	A	G43091594A	BRCA1	NM_007294.4(BRCA1):c.3937C>T:p.Gln1313Ter	coding	Pathogenic
17	43091621	C	A	C43091621A	BRCA1	NM_007294.4(BRCA1):c.3910G>T:p.Glu1304Ter	coding	Pathogenic
17	43091627	C	A	C43091627A	BRCA1	NM_007294.4(BRCA1):c.3904G>T:p.Glu1302Ter	coding	Pathogenic
17	43091636	G	A	G43091636A	BRCA1	NM_007294.4(BRCA1):c.3895C>T:p.Gln1299Ter	coding	Pathogenic
17	43091638	G	C	G43091638C	BRCA1	NM_007294.4(BRCA1):c.3893C>G:p.Ser1298Ter	coding	Pathogenic
17	43091638	G	T	G43091638T	BRCA1	NM_007294.4(BRCA1):c.3893C>A:p.Ser1298Ter	coding	Pathogenic
17	43091663	T	A	T43091663A	BRCA1	NM_007294.4(BRCA1):c.3868A>T:p.Lys1290Ter	coding	Pathogenic
17	43091669	C	A	C43091669A	BRCA1	NM_007294.4(BRCA1):c.3862G>T:p.Glu1288Ter	coding	Pathogenic
17	43091690	G	A	G43091690A	BRCA1	NM_007294.4(BRCA1):c.3841C>T:p.Gln1281Ter	coding	Pathogenic
17	43091695	G	A	G43091695A	BRCA1	NM_007294.4(BRCA1):c.3836C>T:p.Ala1279Val	coding	Benign
17	43091708	T	C	T43091708C	BRCA1	NM_007294.4(BRCA1):c.3823A>G:p.Ile1275Val	coding	Benign
17	43091714	G	A	G43091714A	BRCA1	NM_007294.4(BRCA1):c.3817C>T:p.Gln1273Ter	coding	Pathogenic
17	43091721	G	T	G43091721T	BRCA1	NM_007294.4(BRCA1):c.3810C>A:p.Cys1270Ter	coding	Pathogenic
17	43091731	A	C	A43091731C	BRCA1	NM_007294.4(BRCA1):c.3800T>G:p.Leu1267Ter	coding	Pathogenic
17	43091734	C	G	C43091734G	BRCA1	NM_007294.4(BRCA1):c.3797G>C:p.Ser1266Thr	coding	Benign
17	43091746	G	T	G43091746T	BRCA1	NM_007294.4(BRCA1):c.3785C>A:p.Ser1262Ter	coding	Pathogenic
17	43091749	A	C	A43091749C	BRCA1	NM_007294.4(BRCA1):c.3782T>G:p.Leu1261Ter	coding	Pathogenic
17	43091749	A	T	A43091749T	BRCA1	NM_007294.4(BRCA1):c.3782T>A:p.Leu1261Ter	coding	Pathogenic
17	43091752	A	C	A43091752C	BRCA1	NM_007294.4(BRCA1):c.3779T>G:p.Leu1260Ter	coding	Pathogenic
17	43091759	C	A	C43091759A	BRCA1	NM_007294.4(BRCA1):c.3772G>T:p.Glu1258Ter	coding	Pathogenic
17	43091778	A	T	A43091778T	BRCA1	NM_007294.4(BRCA1):c.3753T>A:p.Cys1251Ter	coding	Pathogenic
17	43091783	C	A	C43091783A	BRCA1	NM_007294.4(BRCA1):c.3748G>T:p.Glu1250Ter	coding	Pathogenic
17	43091783	C	T	C43091783T	BRCA1	NM_007294.4(BRCA1):c.3748G>A:p.Glu1250Lys	coding	Benign
17	43091792	C	T	C43091792T	BRCA1	NM_007294.4(BRCA1):c.3739G>A:p.Val1247Ile	coding	Benign
17	43091807	T	C	T43091807C	BRCA1	NM_007294.4(BRCA1):c.3724A>G:p.Thr1242Ala	coding	Benign
17	43091813	G	A	G43091813A	BRCA1	NM_007294.4(BRCA1):c.3718C>T:p.Gln1240Ter	coding	Pathogenic
17	43091818	G	A	G43091818A	BRCA1	NM_007294.4(BRCA1):c.3713C>T:p.Pro1238Leu	coding	Benign
17	43091823	A	C	A43091823C	BRCA1	NM_007294.4(BRCA1):c.3708T>G:p.Asn1236Lys	coding	Benign
17	43091834	T	A	T43091834A	BRCA1	NM_007294.4(BRCA1):c.3697A>T:p.Lys1233Ter	coding	Pathogenic
17	43091842	A	C	A43091842C	BRCA1	NM_007294.4(BRCA1):c.3689T>G:p.Leu1230Ter	coding	Pathogenic
17	43091845	A	T	A43091845T	BRCA1	NM_007294.4(BRCA1):c.3686T>A:p.Leu1229Ter	coding	Pathogenic
17	43091847	G	A	G43091847A	BRCA1	NM_007294.4(BRCA1):c.3684C>T:p.His1228=	coding	Benign
17	43091852	G	A	G43091852A	BRCA1	NM_007294.4(BRCA1):c.3679C>T:p.Gln1227Ter	coding	Pathogenic
17	43091856	G	T	G43091856T	BRCA1	NM_007294.4(BRCA1):c.3675C>A:p.Cys1225Ter	coding	Pathogenic
17	43091867	C	A	C43091867A	BRCA1	NM_007294.4(BRCA1):c.3664G>T:p.Glu1222Ter	coding	Pathogenic
17	43091870	C	A	C43091870A	BRCA1	NM_007294.4(BRCA1):c.3661G>T:p.Glu1221Ter	coding	Pathogenic
17	43091874	C	G	C43091874G	BRCA1	NM_007294.4(BRCA1):c.3657G>C:p.Glu1219Asp	coding	Benign
17	43091884	A	C	A43091884C	BRCA1	NM_007294.4(BRCA1):c.3647T>G:p.Leu1216Ter	coding	Pathogenic
17	43091884	A	T	A43091884T	BRCA1	NM_007294.4(BRCA1):c.3647T>A:p.Leu1216Ter	coding	Pathogenic
17	43091891	C	A	C43091891A	BRCA1	NM_007294.4(BRCA1):c.3640G>T:p.Glu1214Ter	coding	Pathogenic
17	43091891	C	T	C43091891T	BRCA1	NM_007294.4(BRCA1):c.3640G>A:p.Glu1214Lys	coding	Benign
17	43091894	C	A	C43091894A	BRCA1	NM_007294.4(BRCA1):c.3637G>T:p.Glu1213Ter	coding	Pathogenic
17	43091896	G	C	G43091896C	BRCA1	NM_007294.4(BRCA1):c.3635C>G:p.Ser1212Ter	coding	Pathogenic
17	43091905	A	C	A43091905C	BRCA1	NM_007294.4(BRCA1):c.3626T>G:p.Leu1209Ter	coding	Pathogenic
17	43091912	T	A	T43091912A	BRCA1	NM_007294.4(BRCA1):c.3619A>T:p.Lys1207Ter	coding	Pathogenic
17	43091923	C	T	C43091923T	BRCA1	NM_007294.4(BRCA1):c.3608G>A:p.Arg1203Gln	coding	Benign
17	43091924	G	A	G43091924A	BRCA1	NM_007294.4(BRCA1):c.3607C>T:p.Arg1203Ter	coding	Pathogenic
17	43091931	C	A	C43091931A	BRCA1	NM_007294.4(BRCA1):c.3600G>T:p.Gln1200His	coding	Benign
17	43091931	C	G	C43091931G	BRCA1	NM_007294.4(BRCA1):c.3600G>C:p.Gln1200His	coding	Benign/Likely_benign
17	43091933	G	A	G43091933A	BRCA1	NM_007294.4(BRCA1):c.3598C>T:p.Gln1200Ter	coding	Pathogenic
17	43091938	A	T	A43091938T	BRCA1	NM_007294.4(BRCA1):c.3593T>A:p.Leu1198Ter	coding	Pathogenic
17	43091978	C	A	C43091978A	BRCA1	NM_007294.4(BRCA1):c.3553G>T:p.Glu1185Ter	coding	Pathogenic
17	43091983	T	C	T43091983C	BRCA1	NM_007294.4(BRCA1):c.3548A>G:p.Lys1183Arg	coding	Benign
17	43091987	G	A	G43091987A	BRCA1	NM_007294.4(BRCA1):c.3544C>T:p.Gln1182Ter	coding	Pathogenic
17	43091990	C	T	C43091990T	BRCA1	NM_007294.4(BRCA1):c.3541G>A:p.Val1181Ile	coding	Benign
17	43091996	T	A	T43091996A	BRCA1	NM_007294.4(BRCA1):c.3535A>T:p.Lys1179Ter	coding	Pathogenic
17	43092017	C	A	C43092017A	BRCA1	NM_007294.4(BRCA1):c.3514G>T:p.Glu1172Ter	coding	Pathogenic
17	43092020	T	A	T43092020A	BRCA1	NM_007294.4(BRCA1):c.3511A>T:p.Lys1171Ter	coding	Pathogenic
17	43092050	C	A	C43092050A	BRCA1	NM_007294.4(BRCA1):c.3481G>T:p.Glu1161Ter	coding	Pathogenic
17	43092059	C	A	C43092059A	BRCA1	NM_007294.4(BRCA1):c.3472G>T:p.Glu1158Ter	coding	Pathogenic
17	43092068	C	G	C43092068G	BRCA1	NM_007294.4(BRCA1):c.3463G>C:p.Asp1155His	coding	Benign
17	43092070	A	C	A43092070C	BRCA1	NM_007294.4(BRCA1):c.3461T>G:p.Leu1154Ter	coding	Pathogenic
17	43092083	G	A	G43092083A	BRCA1	NM_007294.4(BRCA1):c.3448C>T:p.Pro1150Ser	coding	Benign
17	43092089	C	A	C43092089A	BRCA1	NM_007294.4(BRCA1):c.3442G>T:p.Glu1148Ter	coding	Pathogenic
17	43092099	C	T	C43092099T	BRCA1	NM_007294.4(BRCA1):c.3432G>A:p.Gln1144=	coding	Benign
17	43092101	G	A	G43092101A	BRCA1	NM_007294.4(BRCA1):c.3430C>T:p.Gln1144Ter	coding	Pathogenic
17	43092113	T	C	T43092113C	BRCA1	NM_007294.4(BRCA1):c.3418A>G:p.Ser1140Gly	coding	Benign
17	43092115	C	A	C43092115A	BRCA1	NM_007294.4(BRCA1):c.3416G>T:p.Ser1139Ile	coding	Benign
17	43092119	C	A	C43092119A	BRCA1	NM_007294.4(BRCA1):c.3412G>T:p.Gly1138Ter	coding	Pathogenic
17	43092128	G	A	G43092128A	BRCA1	NM_007294.4(BRCA1):c.3403C>T:p.Gln1135Ter	coding	Pathogenic
17	43092131	C	A	C43092131A	BRCA1	NM_007294.4(BRCA1):c.3400G>T:p.Glu1134Ter	coding	Pathogenic
17	43092133	A	C	A43092133C	BRCA1	NM_007294.4(BRCA1):c.3398T>G:p.Leu1133Ter	coding	Pathogenic
17	43092133	A	T	A43092133T	BRCA1	NM_007294.4(BRCA1):c.3398T>A:p.Leu1133Ter	coding	Pathogenic
17	43092142	G	C	G43092142C	BRCA1	NM_007294.4(BRCA1):c.3389C>G:p.Ser1130Ter	coding	Pathogenic
17	43092150	A	C	A43092150C	BRCA1	NM_007294.4(BRCA1):c.3381T>G:p.Tyr1127Ter	coding	Pathogenic
17	43092179	G	A	G43092179A	BRCA1	NM_007294.4(BRCA1):c.3352C>T:p.Gln1118Ter	coding	Pathogenic
17	43092191	C	A	C43092191A	BRCA1	NM_007294.4(BRCA1):c.3340G>T:p.Glu1114Ter	coding	Pathogenic
17	43092192	A	C	A43092192C	BRCA1	NM_007294.4(BRCA1):c.3339T>G:p.Tyr1113Ter	coding	Pathogenic
17	43092200	G	A	G43092200A	BRCA1	NM_007294.4(BRCA1):c.3331C>T:p.Gln1111Ter	coding	Pathogenic
17	43092204	T	G	T43092204G	BRCA1	NM_007294.4(BRCA1):c.3327A>C:p.Lys1109Asn	coding	Benign
17	43092212	C	A	C43092212A	BRCA1	NM_007294.4(BRCA1):c.3319G>T:p.Glu1107Ter	coding	Pathogenic
17	43092222	A	T	A43092222T	BRCA1	NM_007294.4(BRCA1):c.3309T>A:p.Cys1103Ter	coding	Pathogenic
17	43092229	C	T	C43092229T	BRCA1	NM_007294.4(BRCA1):c.3302G>A:p.Ser1101Asn	coding	Benign
17	43092235	G	A	G43092235A	BRCA1	NM_007294.4(BRCA1):c.3296C>T:p.Pro1099Leu	coding	Benign
17	43092245	G	A	G43092245A	BRCA1	NM_007294.4(BRCA1):c.3286C>T:p.Gln1096Ter	coding	Pathogenic
17	43092249	A	C	A43092249C	BRCA1	NM_007294.4(BRCA1):c.3282T>G:p.Tyr1094Ter	coding	Pathogenic
17	43092263	G	A	G43092263A	BRCA1	NM_007294.4(BRCA1):c.3268C>T:p.Gln1090Ter	coding	Pathogenic
17	43092265	A	T	A43092265T	BRCA1	NM_007294.4(BRCA1):c.3266T>A:p.Leu1089Ter	coding	Pathogenic
17	43092274	A	C	A43092274C	BRCA1	NM_007294.4(BRCA1):c.3257T>G:p.Leu1086Ter	coding	Pathogenic
17	43092274	A	T	A43092274T	BRCA1	NM_007294.4(BRCA1):c.3257T>A:p.Leu1086Ter	coding	Pathogenic
17	43092278	T	A	T43092278A	BRCA1	NM_007294.4(BRCA1):c.3253A>T:p.Arg1085Ter	coding	Pathogenic
17	43092292	A	T	A43092292T	BRCA1	NM_007294.4(BRCA1):c.3239T>A:p.Leu1080Ter	coding	Pathogenic
17	43092305	T	A	T43092305A	BRCA1	NM_007294.4(BRCA1):c.3226A>T:p.Arg1076Ter	coding	Pathogenic
17	43092320	C	A	C43092320A	BRCA1	NM_007294.4(BRCA1):c.3211G>T:p.Glu1071Ter	coding	Pathogenic
17	43092326	G	A	G43092326A	BRCA1	NM_007294.4(BRCA1):c.3205C>T:p.Gln1069Ter	coding	Pathogenic
17	43092335	C	A	C43092335A	BRCA1	NM_007294.4(BRCA1):c.3196G>T:p.Glu1066Ter	coding	Pathogenic
17	43092353	C	A	C43092353A	BRCA1	NM_007294.4(BRCA1):c.3178G>T:p.Glu1060Ter	coding	Pathogenic
17	43092374	C	A	C43092374A	BRCA1	NM_007294.4(BRCA1):c.3157G>T:p.Glu1053Ter	coding	Pathogenic
17	43092388	C	A	C43092388A	BRCA1	NM_007294.4(BRCA1):c.3143G>T:p.Gly1048Val	coding	Benign
17	43092401	T	C	T43092401C	BRCA1	NM_007294.4(BRCA1):c.3130A>G:p.Ile1044Val	coding	Benign
17	43092409	G	C	G43092409C	BRCA1	NM_007294.4(BRCA1):c.3122C>G:p.Ser1041Ter	coding	Pathogenic
17	43092412	C	T	C43092412T	BRCA1	NM_007294.4(BRCA1):c.3119G>A:p.Ser1040Asn	coding	Benign
17	43092418	T	C	T43092418C	BRCA1	NM_007294.4(BRCA1):c.3113A>G:p.Glu1038Gly	coding	Benign
17	43092419	C	A	C43092419A	BRCA1	NM_007294.4(BRCA1):c.3112G>T:p.Glu1038Ter	coding	Pathogenic
17	43092434	C	A	C43092434A	BRCA1	NM_007294.4(BRCA1):c.3097G>T:p.Glu1033Ter	coding	Pathogenic
17	43092448	C	T	C43092448T	BRCA1	NM_007294.4(BRCA1):c.3083G>A:p.Arg1028His	coding	Benign
17	43092449	G	A	G43092449A	BRCA1	NM_007294.4(BRCA1):c.3082C>T:p.Arg1028Cys	coding	Benign
17	43092482	C	A	C43092482A	BRCA1	NM_007294.4(BRCA1):c.3049G>T:p.Glu1017Ter	coding	Pathogenic
17	43092494	C	A	C43092494A	BRCA1	NM_007294.4(BRCA1):c.3037G>T:p.Glu1013Ter	coding	Pathogenic
17	43092505	G	T	G43092505T	BRCA1	NM_007294.4(BRCA1):c.3026C>A:p.Ser1009Ter	coding	Pathogenic
17	43092507	C	T	C43092507T	BRCA1	NM_007294.4(BRCA1):c.3024G>A:p.Met1008Ile	coding	Benign
17	43092509	T	C	T43092509C	BRCA1	NM_007294.4(BRCA1):c.3022A>G:p.Met1008Val	coding	Benign
17	43092511	G	C	G43092511C	BRCA1	NM_007294.4(BRCA1):c.3020C>G:p.Ser1007Ter	coding	Pathogenic
17	43092511	G	T	G43092511T	BRCA1	NM_007294.4(BRCA1):c.3020C>A:p.Ser1007Ter	coding	Pathogenic
17	43092521	C	A	C43092521A	BRCA1	NM_007294.4(BRCA1):c.3010G>T:p.Glu1004Ter	coding	Pathogenic
17	43092530	C	A	C43092530A	BRCA1	NM_007294.4(BRCA1):c.3001G>T:p.Glu1001Ter	coding	Pathogenic
17	43092548	T	A	T43092548A	BRCA1	NM_007294.4(BRCA1):c.2983A>T:p.Lys995Ter	coding	Pathogenic
17	43092560	T	A	T43092560A	BRCA1	NM_007294.4(BRCA1):c.2971A>T:p.Lys991Ter	coding	Pathogenic
17	43092568	G	T	G43092568T	BRCA1	NM_007294.4(BRCA1):c.2963C>A:p.Ser988Ter	coding	Pathogenic
17	43092572	T	A	T43092572A	BRCA1	NM_007294.4(BRCA1):c.2959A>T:p.Lys987Ter	coding	Pathogenic
17	43092597	A	C	A43092597C	BRCA1	NM_007294.4(BRCA1):c.2934T>G:p.Tyr978Ter	coding	Pathogenic
17	43092597	A	T	A43092597T	BRCA1	NM_007294.4(BRCA1):c.2934T>A:p.Tyr978Ter	coding	Pathogenic
17	43092608	G	A	G43092608A	BRCA1	NM_007294.4(BRCA1):c.2923C>T:p.Gln975Ter	coding	Pathogenic
17	43092610	A	T	A43092610T	BRCA1	NM_007294.4(BRCA1):c.2921T>A:p.Leu974Ter	coding	Pathogenic
17	43092617	C	A	C43092617A	BRCA1	NM_007294.4(BRCA1):c.2914G>T:p.Gly972Ter	coding	Pathogenic
17	43092619	T	C	T43092619C	BRCA1	NM_007294.4(BRCA1):c.2912A>G:p.His971Arg	coding	Benign
17	43092641	C	A	C43092641A	BRCA1	NM_007294.4(BRCA1):c.2890G>T:p.Gly964Ter	coding	Pathogenic
17	43092647	C	T	C43092647T	BRCA1	NM_007294.4(BRCA1):c.2884G>A:p.Glu962Lys	coding	Benign
17	43092656	T	A	T43092656A	BRCA1	NM_007294.4(BRCA1):c.2875A>T:p.Arg959Ter	coding	Pathogenic
17	43092662	G	A	G43092662A	BRCA1	NM_007294.4(BRCA1):c.2869C>T:p.Gln957Ter	coding	Pathogenic
17	43092667	G	C	G43092667C	BRCA1	NM_007294.4(BRCA1):c.2864C>G:p.Ser955Ter	coding	Pathogenic
17	43092667	G	T	G43092667T	BRCA1	NM_007294.4(BRCA1):c.2864C>A:p.Ser955Ter	coding	Pathogenic
17	43092692	T	A	T43092692A	BRCA1	NM_007294.4(BRCA1):c.2839A>T:p.Lys947Ter	coding	Pathogenic
17	43092699	A	T	A43092699T	BRCA1	NM_007294.4(BRCA1):c.2832T>A:p.Cys944Ter	coding	Pathogenic
17	43092717	T	C	T43092717C	BRCA1	NM_007294.4(BRCA1):c.2814A>G:p.Pro938=	coding	Benign
17	43092722	T	A	T43092722A	BRCA1	NM_007294.4(BRCA1):c.2809A>T:p.Lys937Ter	coding	Pathogenic
17	43092731	G	A	G43092731A	BRCA1	NM_007294.4(BRCA1):c.2800C>T:p.Gln934Ter	coding	Pathogenic
17	43092733	C	G	C43092733G	BRCA1	NM_007294.4(BRCA1):c.2798G>C:p.Gly933Ala	coding	Benign
17	43092758	T	G	T43092758G	BRCA1	NM_007294.4(BRCA1):c.2773A>C:p.Ile925Leu	coding	Benign
17	43092770	G	A	G43092770A	BRCA1	NM_007294.4(BRCA1):c.2761C>T:p.Gln921Ter	coding	Pathogenic
17	43092773	C	T	C43092773T	BRCA1	NM_007294.4(BRCA1):c.2758G>A:p.Val920Ile	coding	Benign
17	43092791	C	A	C43092791A	BRCA1	NM_007294.4(BRCA1):c.2740G>T:p.Glu914Ter	coding	Pathogenic
17	43092803	G	A	G43092803A	BRCA1	NM_007294.4(BRCA1):c.2728C>T:p.Gln910Ter	coding	Pathogenic
17	43092809	C	A	C43092809A	BRCA1	NM_007294.4(BRCA1):c.2722G>T:p.Glu908Ter	coding	Pathogenic
17	43092812	C	A	C43092812A	BRCA1	NM_007294.4(BRCA1):c.2719G>T:p.Glu907Ter	coding	Pathogenic
17	43092818	G	A	G43092818A	BRCA1	NM_007294.4(BRCA1):c.2713C>T:p.Gln905Ter	coding	Pathogenic
17	43092821	C	A	C43092821A	BRCA1	NM_007294.4(BRCA1):c.2710G>T:p.Glu904Ter	coding	Pathogenic
17	43092822	A	T	A43092822T	BRCA1	NM_007294.4(BRCA1):c.2709T>A:p.Cys903Ter	coding	Pathogenic
17	43092848	G	A	G43092848A	BRCA1	NM_007294.4(BRCA1):c.2683C>T:p.Gln895Ter	coding	Pathogenic
17	43092851	T	A	T43092851A	BRCA1	NM_007294.4(BRCA1):c.2680A>T:p.Lys894Ter	coding	Pathogenic
17	43092854	T	A	T43092854A	BRCA1	NM_007294.4(BRCA1):c.2677A>T:p.Lys893Ter	coding	Pathogenic
17	43092856	A	C	A43092856C	BRCA1	NM_007294.4(BRCA1):c.2675T>G:p.Leu892Ter	coding	Pathogenic
17	43092862	C	A	C43092862A	BRCA1	NM_007294.4(BRCA1):c.2669G>T:p.Gly890Val	coding	Benign
17	43092890	C	A	C43092890A	BRCA1	NM_007294.4(BRCA1):c.2641G>T:p.Glu881Ter	coding	Pathogenic
17	43092896	C	A	C43092896A	BRCA1	NM_007294.4(BRCA1):c.2635G>T:p.Glu879Ter	coding	Pathogenic
17	43092919	G	A	G43092919A	BRCA1	NM_007294.4(BRCA1):c.2612C>T:p.Pro871Leu	coding	Benign
17	43092928	G	C	G43092928C	BRCA1	NM_007294.4(BRCA1):c.2603C>G:p.Ser868Ter	coding	Pathogenic
17	43092928	G	T	G43092928T	BRCA1	NM_007294.4(BRCA1):c.2603C>A:p.Ser868Ter	coding	Pathogenic
17	43092932	G	A	G43092932A	BRCA1	NM_007294.4(BRCA1):c.2599C>T:p.Gln867Ter	coding	Pathogenic
17	43092934	C	T	C43092934T	BRCA1	NM_007294.4(BRCA1):c.2597G>A:p.Arg866His	coding	Benign
17	43092935	G	A	G43092935A	BRCA1	NM_007294.4(BRCA1):c.2596C>T:p.Arg866Cys	coding	Benign
17	43092938	T	A	T43092938A	BRCA1	NM_007294.4(BRCA1):c.2593A>T:p.Lys865Ter	coding	Pathogenic
17	43092940	G	C	G43092940C	BRCA1	NM_007294.4(BRCA1):c.2591C>G:p.Ser864Ter	coding	Pathogenic
17	43092947	T	C	T43092947C	BRCA1	NM_007294.4(BRCA1):c.2584A>G:p.Lys862Glu	coding	Benign
17	43092959	G	A	G43092959A	BRCA1	NM_007294.4(BRCA1):c.2572C>T:p.Gln858Ter	coding	Pathogenic
17	43092961	A	T	A43092961T	BRCA1	NM_007294.4(BRCA1):c.2570T>A:p.Leu857Ter	coding	Pathogenic
17	43092963	A	C	A43092963C	BRCA1	NM_007294.4(BRCA1):c.2568T>G:p.Tyr856Ter	coding	Pathogenic
17	43092965	A	G	A43092965G	BRCA1	NM_007294.4(BRCA1):c.2566T>C:p.Tyr856His	coding	Benign
17	43092968	G	A	G43092968A	BRCA1	NM_007294.4(BRCA1):c.2563C>T:p.Gln855Ter	coding	Pathogenic
17	43092980	C	A	C43092980A	BRCA1	NM_007294.4(BRCA1):c.2551G>T:p.Glu851Ter	coding	Pathogenic
17	43092986	C	A	C43092986A	BRCA1	NM_007294.4(BRCA1):c.2545G>T:p.Glu849Ter	coding	Pathogenic
17	43092995	C	A	C43092995A	BRCA1	NM_007294.4(BRCA1):c.2536G>T:p.Glu846Ter	coding	Pathogenic
17	43093006	T	C	T43093006C	BRCA1	NM_007294.4(BRCA1):c.2525A>G:p.Glu842Gly	coding	Benign
17	43093007	C	A	C43093007A	BRCA1	NM_007294.4(BRCA1):c.2524G>T:p.Glu842Ter	coding	Pathogenic
17	43093009	C	T	C43093009T	BRCA1	NM_007294.4(BRCA1):c.2522G>A:p.Arg841Gln	coding	Benign/Likely_benign
17	43093010	G	A	G43093010A	BRCA1	NM_007294.4(BRCA1):c.2521C>T:p.Arg841Trp	coding	Benign
17	43093033	A	T	A43093033T	BRCA1	NM_007294.4(BRCA1):c.2498T>A:p.Leu833Ter	coding	Pathogenic
17	43093043	T	A	T43093043A	BRCA1	NM_007294.4(BRCA1):c.2488A>T:p.Lys830Ter	coding	Pathogenic
17	43093054	G	T	G43093054T	BRCA1	NM_007294.4(BRCA1):c.2477C>A:p.Thr826Lys	coding	Benign
17	43093073	T	C	T43093073C	BRCA1	NM_007294.4(BRCA1):c.2458A>G:p.Lys820Glu	coding	Benign
17	43093094	C	A	C43093094A	BRCA1	NM_007294.4(BRCA1):c.2437G>T:p.Gly813Ter	coding	Pathogenic
17	43093097	T	A	T43093097A	BRCA1	NM_007294.4(BRCA1):c.2434A>T:p.Lys812Ter	coding	Pathogenic
17	43093103	T	A	T43093103A	BRCA1	NM_007294.4(BRCA1):c.2428A>T:p.Asn810Tyr	coding	Benign
17	43093116	A	T	A43093116T	BRCA1	NM_007294.4(BRCA1):c.2415T>A:p.Cys805Ter	coding	Pathogenic
17	43093119	C	G	C43093119G	BRCA1	NM_007294.4(BRCA1):c.2412G>C:p.Gln804His	coding	Benign
17	43093121	G	A	G43093121A	BRCA1	NM_007294.4(BRCA1):c.2410C>T:p.Gln804Ter	coding	Pathogenic
17	43093128	A	T	A43093128T	BRCA1	NM_007294.4(BRCA1):c.2403T>A:p.Cys801Ter	coding	Pathogenic
17	43093142	C	A	C43093142A	BRCA1	NM_007294.4(BRCA1):c.2389G>T:p.Glu797Ter	coding	Pathogenic
17	43093175	G	A	G43093175A	BRCA1	NM_007294.4(BRCA1):c.2356C>T:p.Leu786=	coding	Benign
17	43093177	A	T	A43093177T	BRCA1	NM_007294.4(BRCA1):c.2354T>A:p.Leu785Ter	coding	Pathogenic
17	43093180	G	A	G43093180A	BRCA1	NM_007294.4(BRCA1):c.2351C>T:p.Ser784Leu	coding	Benign
17	43093193	G	A	G43093193A	BRCA1	NM_007294.4(BRCA1):c.2338C>T:p.Gln780Ter	coding	Pathogenic
17	43093200	A	C	A43093200C	BRCA1	NM_007294.4(BRCA1):c.2331T>G:p.Tyr777Ter	coding	Pathogenic
17	43093200	A	T	A43093200T	BRCA1	NM_007294.4(BRCA1):c.2331T>A:p.Tyr777Ter	coding	Pathogenic
17	43093216	A	G	A43093216G	BRCA1	NM_007294.4(BRCA1):c.2315T>C:p.Val772Ala	coding	Benign
17	43093220	A	G	A43093220G	BRCA1	NM_007294.4(BRCA1):c.2311T>C:p.Leu771=	coding	Benign
17	43093222	G	A	G43093222A	BRCA1	NM_007294.4(BRCA1):c.2309C>T:p.Ser770Leu	coding	Pathogenic
17	43093222	G	C	G43093222C	BRCA1	NM_007294.4(BRCA1):c.2309C>G:p.Ser770Ter	coding	Pathogenic
17	43093222	G	T	G43093222T	BRCA1	NM_007294.4(BRCA1):c.2309C>A:p.Ser770Ter	coding	Pathogenic
17	43093238	C	A	C43093238A	BRCA1	NM_007294.4(BRCA1):c.2293G>T:p.Glu765Ter	coding	Pathogenic
17	43093245	T	A	T43093245A	BRCA1	NM_007294.4(BRCA1):c.2286A>T:p.Arg762Ser	coding	Benign
17	43093256	G	A	G43093256A	BRCA1	NM_007294.4(BRCA1):c.2275C>T:p.Gln759Ter	coding	Pathogenic
17	43093258	A	T	A43093258T	BRCA1	NM_007294.4(BRCA1):c.2273T>A:p.Leu758Ter	coding	Pathogenic
17	43093268	C	A	C43093268A	BRCA1	NM_007294.4(BRCA1):c.2263G>T:p.Glu755Ter	coding	Pathogenic
17	43093271	C	A	C43093271A	BRCA1	NM_007294.4(BRCA1):c.2260G>T:p.Gly754Ter	coding	Pathogenic
17	43093276	A	T	A43093276T	BRCA1	NM_007294.4(BRCA1):c.2255T>A:p.Leu752Ter	coding	Pathogenic
17	43093299	A	G	A43093299G	BRCA1	NM_007294.4(BRCA1):c.2232T>C:p.Ala744=	coding	Benign
17	43093316	T	A	T43093316A	BRCA1	NM_007294.4(BRCA1):c.2215A>T:p.Lys739Ter	coding	Pathogenic
17	43093334	C	A	C43093334A	BRCA1	NM_007294.4(BRCA1):c.2197G>T:p.Glu733Ter	coding	Pathogenic
17	43093337	C	A	C43093337A	BRCA1	NM_007294.4(BRCA1):c.2194G>T:p.Glu732Ter	coding	Pathogenic
17	43093343	C	A	C43093343A	BRCA1	NM_007294.4(BRCA1):c.2188G>T:p.Glu730Ter	coding	Pathogenic
17	43093346	C	A	C43093346A	BRCA1	NM_007294.4(BRCA1):c.2185G>T:p.Glu729Ter	coding	Pathogenic
17	43093351	G	A	G43093351A	BRCA1	NM_007294.4(BRCA1):c.2180C>T:p.Pro727Leu	coding	Benign
17	43093364	T	C	T43093364C	BRCA1	NM_007294.4(BRCA1):c.2167A>G:p.Asn723Asp	coding	Benign
17	43093373	C	A	C43093373A	BRCA1	NM_007294.4(BRCA1):c.2158G>T:p.Glu720Ter	coding	Pathogenic
17	43093376	T	A	T43093376A	BRCA1	NM_007294.4(BRCA1):c.2155A>T:p.Lys719Ter	coding	Pathogenic
17	43093382	C	A	C43093382A	BRCA1	NM_007294.4(BRCA1):c.2149G>T:p.Glu717Ter	coding	Pathogenic
17	43093393	G	C	G43093393C	BRCA1	NM_007294.4(BRCA1):c.2138C>G:p.Ser713Ter	coding	Pathogenic
17	43093393	G	T	G43093393T	BRCA1	NM_007294.4(BRCA1):c.2138C>A:p.Ser713Ter	coding	Pathogenic
17	43093422	T	C	T43093422C	BRCA1	NM_007294.4(BRCA1):c.2109A>G:p.Thr703=	coding	Benign
17	43093426	A	C	A43093426C	BRCA1	NM_007294.4(BRCA1):c.2105T>G:p.Leu702Ter	coding	Pathogenic
17	43093430	T	A	T43093430A	BRCA1	NM_007294.4(BRCA1):c.2101A>T:p.Lys701Ter	coding	Pathogenic
17	43093436	C	A	C43093436A	BRCA1	NM_007294.4(BRCA1):c.2095G>T:p.Glu699Ter	coding	Pathogenic
17	43093448	C	A	C43093448A	BRCA1	NM_007294.4(BRCA1):c.2083G>T:p.Asp695Tyr	coding	Benign
17	43093449	G	A	G43093449A	BRCA1	NM_007294.4(BRCA1):c.2082C>T:p.Ser694=	coding	Benign
17	43093454	C	A	C43093454A	BRCA1	NM_007294.4(BRCA1):c.2077G>T:p.Asp693Tyr	coding	Benign
17	43093454	C	T	C43093454T	BRCA1	NM_007294.4(BRCA1):c.2077G>A:p.Asp693Asn	coding	Benign
17	43093463	T	A	T43093463A	BRCA1	NM_007294.4(BRCA1):c.2068A>T:p.Lys690Ter	coding	Pathogenic
17	43093472	G	A	G43093472A	BRCA1	NM_007294.4(BRCA1):c.2059C>T:p.Gln687Ter	coding	Pathogenic
17	43093475	C	A	C43093475A	BRCA1	NM_007294.4(BRCA1):c.2056G>T:p.Glu686Ter	coding	Pathogenic
17	43093493	T	A	T43093493A	BRCA1	NM_007294.4(BRCA1):c.2038A>T:p.Lys680Ter	coding	Pathogenic
17	43093496	T	A	T43093496A	BRCA1	NM_007294.4(BRCA1):c.2035A>T:p.Lys679Ter	coding	Pathogenic
17	43093502	C	A	C43093502A	BRCA1	NM_007294.4(BRCA1):c.2029G>T:p.Gly677Ter	coding	Pathogenic
17	43093514	C	A	C43093514A	BRCA1	NM_007294.4(BRCA1):c.2017G>T:p.Glu673Ter	coding	Pathogenic
17	43093517	T	A	T43093517A	BRCA1	NM_007294.4(BRCA1):c.2014A>T:p.Lys672Ter	coding	Pathogenic
17	43093529	G	A	G43093529A	BRCA1	NM_007294.4(BRCA1):c.2002C>T:p.Leu668Phe	coding	Benign
17	43093532	G	A	G43093532A	BRCA1	NM_007294.4(BRCA1):c.1999C>T:p.Gln667Ter	coding	Pathogenic
17	43093560	T	C	T43093560C	BRCA1	NM_007294.4(BRCA1):c.1971A>G:p.Gln657=	coding	Benign
17	43093562	G	A	G43093562A	BRCA1	NM_007294.4(BRCA1):c.1969C>T:p.Gln657Ter	coding	Pathogenic
17	43093566	G	C	G43093566C	BRCA1	NM_007294.4(BRCA1):c.1965C>G:p.Tyr655Ter	coding	Pathogenic
17	43093566	G	T	G43093566T	BRCA1	NM_007294.4(BRCA1):c.1965C>A:p.Tyr655Ter	coding	Pathogenic
17	43093571	T	A	T43093571A	BRCA1	NM_007294.4(BRCA1):c.1960A>T:p.Lys654Ter	coding	Pathogenic
17	43093586	C	A	C43093586A	BRCA1	NM_007294.4(BRCA1):c.1945G>T:p.Glu649Ter	coding	Pathogenic
17	43093589	C	A	C43093589A	BRCA1	NM_007294.4(BRCA1):c.1942G>T:p.Glu648Ter	coding	Pathogenic
17	43093604	T	C	T43093604C	BRCA1	NM_007294.4(BRCA1):c.1927A>G:p.Ser643Gly	coding	Benign
17	43093607	C	G	C43093607G	BRCA1	NM_007294.4(BRCA1):c.1924G>C:p.Asp642His	coding	Benign
17	43093613	G	A	G43093613A	BRCA1	NM_007294.4(BRCA1):c.1918C>T:p.Gln640Ter	coding	Pathogenic
17	43093615	A	T	A43093615T	BRCA1	NM_007294.4(BRCA1):c.1916T>A:p.Leu639Ter	coding	Pathogenic
17	43093619	C	A	C43093619A	BRCA1	NM_007294.4(BRCA1):c.1912G>T:p.Glu638Ter	coding	Pathogenic
17	43093646	T	A	T43093646A	BRCA1	NM_007294.4(BRCA1):c.1885A>T:p.Arg629Ter	coding	Pathogenic
17	43093661	C	A	C43093661A	BRCA1	NM_007294.4(BRCA1):c.1870G>T:p.Glu624Ter	coding	Pathogenic
17	43093666	G	A	G43093666A	BRCA1	NM_007294.4(BRCA1):c.1865C>T:p.Ala622Val	coding	Benign
17	43093691	T	A	T43093691A	BRCA1	NM_007294.4(BRCA1):c.1840A>T:p.Lys614Ter	coding	Pathogenic
17	43093697	T	C	T43093697C	BRCA1	NM_007294.4(BRCA1):c.1834A>G:p.Arg612Gly	coding	Benign
17	43093712	T	A	T43093712A	BRCA1	NM_007294.4(BRCA1):c.1819A>T:p.Lys607Ter	coding	Pathogenic
17	43093723	G	C	G43093723C	BRCA1	NM_007294.4(BRCA1):c.1808C>G:p.Ser603Ter	coding	Pathogenic
17	43093738	A	C	A43093738C	BRCA1	NM_007294.4(BRCA1):c.1793T>G:p.Leu598Ter	coding	Pathogenic
17	43093738	A	T	A43093738T	BRCA1	NM_007294.4(BRCA1):c.1793T>A:p.Leu598Ter	coding	Pathogenic
17	43093742	C	A	C43093742A	BRCA1	NM_007294.4(BRCA1):c.1789G>T:p.Glu597Ter	coding	Pathogenic
17	43093742	C	T	C43093742T	BRCA1	NM_007294.4(BRCA1):c.1789G>A:p.Glu597Lys	coding	Benign
17	43093784	T	A	T43093784A	BRCA1	NM_007294.4(BRCA1):c.1747A>T:p.Lys583Ter	coding	Pathogenic
17	43093790	T	A	T43093790A	BRCA1	NM_007294.4(BRCA1):c.1741A>T:p.Lys581Ter	coding	Pathogenic
17	43093802	C	A	C43093802A	BRCA1	NM_007294.4(BRCA1):c.1729G>T:p.Glu577Ter	coding	Pathogenic
17	43093808	C	A	C43093808A	BRCA1	NM_007294.4(BRCA1):c.1723G>T:p.Glu575Ter	coding	Pathogenic
17	43093817	C	A	C43093817A	BRCA1	NM_007294.4(BRCA1):c.1714G>T:p.Glu572Ter	coding	Pathogenic
17	43093828	G	A	G43093828A	BRCA1	NM_007294.4(BRCA1):c.1703C>T:p.Pro568Leu	coding	Benign
17	43093838	C	A	C43093838A	BRCA1	NM_007294.4(BRCA1):c.1693G>T:p.Glu565Ter	coding	Pathogenic
17	43093844	G	A	G43093844A	BRCA1	NM_007294.4(BRCA1):c.1687C>T:p.Gln563Ter	coding	Pathogenic
17	43093871	C	A	C43093871A	BRCA1	NM_007294.4(BRCA1):c.1660G>T:p.Glu554Ter	coding	Pathogenic
17	43093883	T	G	T43093883G	BRCA1	NM_007294.4(BRCA1):c.1648A>C:p.Asn550His	coding	Benign
17	43093901	G	A	G43093901A	BRCA1	NM_007294.4(BRCA1):c.1630C>T:p.Gln544Ter	coding	Pathogenic
17	43093910	G	A	G43093910A	BRCA1	NM_007294.4(BRCA1):c.1621C>T:p.Gln541Ter	coding	Pathogenic
17	43093913	C	A	C43093913A	BRCA1	NM_007294.4(BRCA1):c.1618G>T:p.Glu540Ter	coding	Pathogenic
17	43093915	G	A	G43093915A	BRCA1	NM_007294.4(BRCA1):c.1616C>T:p.Thr539Met	coding	Benign
17	43093919	G	A	G43093919A	BRCA1	NM_007294.4(BRCA1):c.1612C>T:p.Gln538Ter	coding	Pathogenic
17	43093931	G	A	G43093931A	BRCA1	NM_007294.4(BRCA1):c.1600C>T:p.Gln534Ter	coding	Pathogenic
17	43093955	G	A	G43093955A	BRCA1	NM_007294.4(BRCA1):c.1576C>T:p.Gln526Ter	coding	Pathogenic
17	43093963	A	T	A43093963T	BRCA1	NM_007294.4(BRCA1):c.1568T>A:p.Leu523Ter	coding	Pathogenic
17	43093988	C	A	C43093988A	BRCA1	NM_007294.4(BRCA1):c.1543G>T:p.Glu515Ter	coding	Pathogenic
17	43093997	G	A	G43093997A	BRCA1	NM_007294.4(BRCA1):c.1534C>T:p.Leu512Phe	coding	Benign
17	43094002	G	C	G43094002C	BRCA1	NM_007294.4(BRCA1):c.1529C>G:p.Ser510Ter	coding	Pathogenic
17	43094002	G	T	G43094002T	BRCA1	NM_007294.4(BRCA1):c.1529C>A:p.Ser510Ter	coding	Pathogenic
17	43094012	T	A	T43094012A	BRCA1	NM_007294.4(BRCA1):c.1519A>T:p.Arg507Ter	coding	Pathogenic
17	43094018	T	A	T43094018A	BRCA1	NM_007294.4(BRCA1):c.1513A>T:p.Lys505Ter	coding	Pathogenic
17	43094020	C	T	C43094020T	BRCA1	NM_007294.4(BRCA1):c.1511G>A:p.Arg504His	coding	Benign
17	43094026	A	C	A43094026C	BRCA1	NM_007294.4(BRCA1):c.1505T>G:p.Leu502Ter	coding	Pathogenic
17	43094044	C	T	C43094044T	BRCA1	NM_007294.4(BRCA1):c.1487G>A:p.Arg496His	coding	Benign
17	43094045	G	A	G43094045A	BRCA1	NM_007294.4(BRCA1):c.1486C>T:p.Arg496Cys	coding	Benign
17	43094051	G	A	G43094051A	BRCA1	NM_007294.4(BRCA1):c.1480C>T:p.Gln494Ter	coding	Pathogenic
17	43094060	G	A	G43094060A	BRCA1	NM_007294.4(BRCA1):c.1471C>T:p.Gln491Ter	coding	Pathogenic
17	43094066	C	A	C43094066A	BRCA1	NM_007294.4(BRCA1):c.1465G>T:p.Glu489Ter	coding	Pathogenic
17	43094075	A	G	A43094075G	BRCA1	NM_007294.4(BRCA1):c.1456T>C:p.Phe486Leu	coding	Benign
17	43094081	C	A	C43094081A	BRCA1	NM_007294.4(BRCA1):c.1450G>T:p.Gly484Ter	coding	Pathogenic
17	43094104	T	C	T43094104C	BRCA1	NM_007294.4(BRCA1):c.1427A>G:p.His476Arg	coding	Benign/Likely_benign
17	43094110	A	C	A43094110C	BRCA1	NM_007294.4(BRCA1):c.1421T>G:p.Leu474Ter	coding	Pathogenic
17	43094113	T	A	T43094113A	BRCA1	NM_007294.4(BRCA1):c.1418A>T:p.Asn473Ile	coding	Benign
17	43094113	T	C	T43094113C	BRCA1	NM_007294.4(BRCA1):c.1418A>G:p.Asn473Ser	coding	Benign
17	43094132	T	A	T43094132A	BRCA1	NM_007294.4(BRCA1):c.1399A>T:p.Lys467Ter	coding	Pathogenic
17	43094139	G	A	G43094139A	BRCA1	NM_007294.4(BRCA1):c.1392C>T:p.Thr464=	coding	Benign
17	43094148	A	T	A43094148T	BRCA1	NM_007294.4(BRCA1):c.1383T>A:p.Phe461Leu	coding	Benign
17	43094156	T	A	T43094156A	BRCA1	NM_007294.4(BRCA1):c.1375A>T:p.Lys459Ter	coding	Pathogenic
17	43094179	G	C	G43094179C	BRCA1	NM_007294.4(BRCA1):c.1352C>G:p.Ser451Ter	coding	Pathogenic
17	43094179	G	T	G43094179T	BRCA1	NM_007294.4(BRCA1):c.1352C>A:p.Ser451Ter	coding	Pathogenic
17	43094183	T	A	T43094183A	BRCA1	NM_007294.4(BRCA1):c.1348A>T:p.Lys450Ter	coding	Pathogenic
17	43094198	C	A	C43094198A	BRCA1	NM_007294.4(BRCA1):c.1333G>T:p.Glu445Ter	coding	Pathogenic
17	43094204	T	A	T43094204A	BRCA1	NM_007294.4(BRCA1):c.1327A>T:p.Lys443Ter	coding	Pathogenic
17	43094205	A	T	A43094205T	BRCA1	NM_007294.4(BRCA1):c.1326T>A:p.Cys442Ter	coding	Pathogenic
17	43094212	A	C	A43094212C	BRCA1	NM_007294.4(BRCA1):c.1319T>G:p.Leu440Ter	coding	Pathogenic
17	43094239	A	C	A43094239C	BRCA1	NM_007294.4(BRCA1):c.1292T>G:p.Leu431Ter	coding	Pathogenic
17	43094252	C	A	C43094252A	BRCA1	NM_007294.4(BRCA1):c.1279G>T:p.Glu427Ter	coding	Pathogenic
17	43094254	G	C	G43094254C	BRCA1	NM_007294.4(BRCA1):c.1277C>G:p.Ser426Ter	coding	Pathogenic
17	43094254	G	T	G43094254T	BRCA1	NM_007294.4(BRCA1):c.1277C>A:p.Ser426Ter	coding	Pathogenic
17	43094265	A	C	A43094265C	BRCA1	NM_007294.4(BRCA1):c.1266T>G:p.Tyr422Ter	coding	Pathogenic
17	43094270	C	A	C43094270A	BRCA1	NM_007294.4(BRCA1):c.1261G>T:p.Glu421Ter	coding	Pathogenic
17	43094279	C	A	C43094279A	BRCA1	NM_007294.4(BRCA1):c.1252G>T:p.Glu418Ter	coding	Pathogenic
17	43094298	A	C	A43094298C	BRCA1	NM_007294.4(BRCA1):c.1233T>G:p.Asp411Glu	coding	Benign/Likely_benign
17	43094309	T	A	T43094309A	BRCA1	NM_007294.4(BRCA1):c.1222A>T:p.Lys408Ter	coding	Pathogenic
17	43094317	G	C	G43094317C	BRCA1	NM_007294.4(BRCA1):c.1214C>G:p.Ser405Ter	coding	Pathogenic
17	43094317	G	T	G43094317T	BRCA1	NM_007294.4(BRCA1):c.1214C>A:p.Ser405Ter	coding	Pathogenic
17	43094327	C	A	C43094327A	BRCA1	NM_007294.4(BRCA1):c.1204G>T:p.Glu402Ter	coding	Pathogenic
17	43094338	G	C	G43094338C	BRCA1	NM_007294.4(BRCA1):c.1193C>G:p.Ser398Ter	coding	Pathogenic
17	43094338	G	T	G43094338T	BRCA1	NM_007294.4(BRCA1):c.1193C>A:p.Ser398Ter	coding	Pathogenic
17	43094360	C	A	C43094360A	BRCA1	NM_007294.4(BRCA1):c.1171G>T:p.Glu391Ter	coding	Pathogenic
17	43094369	T	A	T43094369A	BRCA1	NM_007294.4(BRCA1):c.1162A>T:p.Arg388Ter	coding	Pathogenic
17	43094372	A	T	A43094372T	BRCA1	NM_007294.4(BRCA1):c.1159T>A:p.Ser387Thr	coding	Benign
17	43094376	C	T	C43094376T	BRCA1	NM_007294.4(BRCA1):c.1155G>A:p.Trp385Ter	coding	Pathogenic
17	43094377	C	T	C43094377T	BRCA1	NM_007294.4(BRCA1):c.1154G>A:p.Trp385Ter	coding	Pathogenic
17	43094381	C	A	C43094381A	BRCA1	NM_007294.4(BRCA1):c.1150G>T:p.Glu384Ter	coding	Pathogenic
17	43094390	T	A	T43094390A	BRCA1	NM_007294.4(BRCA1):c.1141A>T:p.Lys381Ter	coding	Pathogenic
17	43094393	G	A	G43094393A	BRCA1	NM_007294.4(BRCA1):c.1138C>T:p.Gln380Ter	coding	Pathogenic
17	43094394	A	C	A43094394C	BRCA1	NM_007294.4(BRCA1):c.1137T>G:p.Ile379Met	coding	Benign/Likely_benign
17	43094415	C	T	C43094415T	BRCA1	NM_007294.4(BRCA1):c.1116G>A:p.Trp372Ter	coding	Pathogenic
17	43094416	C	T	C43094416T	BRCA1	NM_007294.4(BRCA1):c.1115G>A:p.Trp372Ter	coding	Pathogenic
17	43094426	C	T	C43094426T	BRCA1	NM_007294.4(BRCA1):c.1105G>A:p.Asp369Asn	coding	Benign
17	43094429	C	A	C43094429A	BRCA1	NM_007294.4(BRCA1):c.1102G>T:p.Glu368Ter	coding	Pathogenic
17	43094438	T	A	T43094438A	BRCA1	NM_007294.4(BRCA1):c.1093A>T:p.Arg365Ter	coding	Pathogenic
17	43094449	G	C	G43094449C	BRCA1	NM_007294.4(BRCA1):c.1082C>G:p.Ser361Ter	coding	Pathogenic
17	43094451	G	T	G43094451T	BRCA1	NM_007294.4(BRCA1):c.1080C>A:p.Cys360Ter	coding	Pathogenic
17	43094462	T	A	T43094462A	BRCA1	NM_007294.4(BRCA1):c.1069A>T:p.Lys357Ter	coding	Pathogenic
17	43094464	T	C	T43094464C	BRCA1	NM_007294.4(BRCA1):c.1067A>G:p.Gln356Arg	coding	Benign
17	43094465	G	A	G43094465A	BRCA1	NM_007294.4(BRCA1):c.1066C>T:p.Gln356Ter	coding	Pathogenic
17	43094468	T	A	T43094468A	BRCA1	NM_007294.4(BRCA1):c.1063A>T:p.Lys355Ter	coding	Pathogenic
17	43094472	C	T	C43094472T	BRCA1	NM_007294.4(BRCA1):c.1059G>A:p.Trp353Ter	coding	Pathogenic
17	43094473	C	T	C43094473T	BRCA1	NM_007294.4(BRCA1):c.1058G>A:p.Trp353Ter	coding	Pathogenic
17	43094477	C	A	C43094477A	BRCA1	NM_007294.4(BRCA1):c.1054G>T:p.Glu352Ter	coding	Pathogenic
17	43094486	C	A	C43094486A	BRCA1	NM_007294.4(BRCA1):c.1045G>T:p.Glu349Ter	coding	Pathogenic
17	43094487	A	T	A43094487T	BRCA1	NM_007294.4(BRCA1):c.1044T>A:p.Cys348Ter	coding	Pathogenic
17	43094495	G	A	G43094495A	BRCA1	NM_007294.4(BRCA1):c.1036C>T:p.Pro346Ser	coding	Benign
17	43094519	T	A	T43094519A	BRCA1	NM_007294.4(BRCA1):c.1012A>T:p.Lys338Ter	coding	Pathogenic
17	43094530	G	A	G43094530A	BRCA1	NM_007294.4(BRCA1):c.1001C>T:p.Pro334Leu	coding	Benign
17	43094534	T	C	T43094534C	BRCA1	NM_007294.4(BRCA1):c.997A>G:p.Thr333Ala	coding	Benign
17	43094550	T	C	T43094550C	BRCA1	NM_007294.4(BRCA1):c.981A>G:p.Thr327=	coding	Benign
17	43094568	C	T	C43094568T	BRCA1	NM_007294.4(BRCA1):c.963G>A:p.Trp321Ter	coding	Pathogenic
17	43094569	C	T	C43094569T	BRCA1	NM_007294.4(BRCA1):c.962G>A:p.Trp321Ter	coding	Pathogenic
17	43094573	T	A	T43094573A	BRCA1	NM_007294.4(BRCA1):c.958A>T:p.Arg320Ter	coding	Pathogenic
17	43094573	T	G	T43094573G	BRCA1	NM_007294.4(BRCA1):c.958A>C:p.Arg320=	coding	Benign
17	43094582	G	A	G43094582A	BRCA1	NM_007294.4(BRCA1):c.949C>T:p.Gln317Ter	coding	Pathogenic
17	43094585	T	C	T43094585C	BRCA1	NM_007294.4(BRCA1):c.946A>G:p.Ser316Gly	coding	Benign
17	43094603	G	A	G43094603A	BRCA1	NM_007294.4(BRCA1):c.928C>T:p.Gln310Ter	coding	Pathogenic
17	43094606	T	A	T43094606A	BRCA1	NM_007294.4(BRCA1):c.925A>T:p.Lys309Ter	coding	Pathogenic
17	43094633	C	A	C43094633A	BRCA1	NM_007294.4(BRCA1):c.898G>T:p.Glu300Ter	coding	Pathogenic
17	43094640	C	A	C43094640A	BRCA1	NM_007294.4(BRCA1):c.891G>T:p.Met297Ile	coding	Benign
17	43094640	C	T	C43094640T	BRCA1	NM_007294.4(BRCA1):c.891G>A:p.Met297Ile	coding	Benign
17	43094645	T	A	T43094645A	BRCA1	NM_007294.4(BRCA1):c.886A>T:p.Arg296Ter	coding	Pathogenic
17	43094662	A	C	A43094662C	BRCA1	NM_007294.4(BRCA1):c.869T>G:p.Leu290Ter	coding	Pathogenic
17	43094662	A	T	A43094662T	BRCA1	NM_007294.4(BRCA1):c.869T>A:p.Leu290Ter	coding	Pathogenic/Likely_pathogenic
17	43094675	C	A	C43094675A	BRCA1	NM_007294.4(BRCA1):c.856G>T:p.Glu286Ter	coding	Pathogenic
17	43094681	G	A	G43094681A	BRCA1	NM_007294.4(BRCA1):c.850C>T:p.Gln284Ter	coding	Pathogenic
17	43094683	A	C	A43094683C	BRCA1	NM_007294.4(BRCA1):c.848T>G:p.Leu283Ter	coding	Pathogenic
17	43094683	A	T	A43094683T	BRCA1	NM_007294.4(BRCA1):c.848T>A:p.Leu283Ter	coding	Pathogenic
17	43094686	G	T	G43094686T	BRCA1	NM_007294.4(BRCA1):c.845C>A:p.Ser282Ter	coding	Pathogenic
17	43094692	G	C	G43094692C	BRCA1	NM_007294.4(BRCA1):c.839C>G:p.Ala280Gly	coding	Benign
17	43094704	G	C	G43094704C	BRCA1	NM_007294.4(BRCA1):c.827C>G:p.Thr276Arg	coding	Benign
17	43094707	C	T	C43094707T	BRCA1	NM_007294.4(BRCA1):c.824G>A:p.Gly275Asp	coding	Benign
17	43094708	C	T	C43094708T	BRCA1	NM_007294.4(BRCA1):c.823G>A:p.Gly275Ser	coding	Benign
17	43094709	A	T	A43094709T	BRCA1	NM_007294.4(BRCA1):c.822T>A:p.Cys274Ter	coding	Pathogenic
17	43094717	C	A	C43094717A	BRCA1	NM_007294.4(BRCA1):c.814G>T:p.Glu272Ter	coding	Pathogenic
17	43094724	C	T	C43094724T	BRCA1	NM_007294.4(BRCA1):c.807G>A:p.Leu269=	coding	Benign
17	43094727	G	A	G43094727A	BRCA1	NM_007294.4(BRCA1):c.804C>T:p.Asn268=	coding	Benign/Likely_benign
17	43094731	G	C	G43094731C	BRCA1	NM_007294.4(BRCA1):c.800C>G:p.Ser267Ter	coding	Pathogenic
17	43094731	G	T	G43094731T	BRCA1	NM_007294.4(BRCA1):c.800C>A:p.Ser267Ter	coding	Pathogenic
17	43094736	A	G	A43094736G	BRCA1	NM_007294.4(BRCA1):c.795T>C:p.Ser265=	coding	Benign
17	43094747	G	A	G43094747A	BRCA1	NM_007294.4(BRCA1):c.784C>T:p.Gln262Ter	coding	Pathogenic
17	43094748	A	C	A43094748C	BRCA1	NM_007294.4(BRCA1):c.783T>G:p.Tyr261Ter	coding	Pathogenic
17	43094753	T	A	T43094753A	BRCA1	NM_007294.4(BRCA1):c.778A>T:p.Lys260Ter	coding	Pathogenic
17	43094766	C	T	C43094766T	BRCA1	NM_007294.4(BRCA1):c.765G>A:p.Glu255=	coding	Benign/Likely_benign
17	43094768	C	A	C43094768A	BRCA1	NM_007294.4(BRCA1):c.763G>T:p.Glu255Ter	coding	Pathogenic
17	43094794	A	T	A43094794T	BRCA1	NM_007294.4(BRCA1):c.737T>A:p.Leu246Ter	coding	Pathogenic
17	43094795	A	C	A43094795C	BRCA1	NM_007294.4(BRCA1):c.736T>G:p.Leu246Val	coding	Benign
17	43094813	G	A	G43094813A	BRCA1	NM_007294.4(BRCA1):c.718C>T:p.Gln240Ter	coding	Pathogenic
17	43094815	T	C	T43094815C	BRCA1	NM_007294.4(BRCA1):c.716A>G:p.His239Arg	coding	Benign
17	43094843	C	A	C43094843A	BRCA1	NM_007294.4(BRCA1):c.688G>T:p.Glu230Ter	coding	Pathogenic/Likely_pathogenic
17	43094852	C	A	C43094852A	BRCA1	NM_007294.4(BRCA1):c.679G>T:p.Glu227Ter	coding	Pathogenic
17	43094853	A	T	A43094853T	BRCA1	NM_007294.4(BRCA1):c.678T>A:p.Cys226Ter	coding	Pathogenic
17	43094861	C	A	C43094861A	BRCA1	NM_007294.4(BRCA1):c.671-1G>T	coding	Pathogenic/Likely_pathogenic
17	43094861	C	T	C43094861T	BRCA1	NM_007294.3(BRCA1):c.671-1G>A	coding	Pathogenic
17	43094862	T	A	T43094862A	BRCA1	NM_007294.4(BRCA1):c.671-2A>T	noncoding	Pathogenic
17	43094862	T	C	T43094862C	BRCA1	NM_007294.3(BRCA1):c.671-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43094862	T	G	T43094862G	BRCA1	NM_007294.3(BRCA1):c.671-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	43095038	C	T	C43095038T	BRCA1	NM_007294.3(BRCA1):c.671-178G>A	noncoding	Benign
17	43095587	A	C	A43095587C	BRCA1	NM_007294.3(BRCA1):c.670+259T>G	noncoding	Benign
17	43095590	A	C	A43095590C	BRCA1	NM_007294.3(BRCA1):c.670+256T>G	noncoding	Benign
17	43095830	C	T	C43095830T	BRCA1	NM_007294.3(BRCA1):c.670+16G>A	noncoding	Benign
17	43095875	T	C	T43095875C	BRCA1	NM_007294.4(BRCA1):c.641A>G:p.Asp214Gly	coding	Benign
17	43095888	G	A	G43095888A	BRCA1	NM_007294.4(BRCA1):c.628C>T:p.Gln210Ter	coding	Pathogenic
17	43095924	T	G	T43095924G	BRCA1	NM_007294.4(BRCA1):c.594-2A>C	noncoding	Benign
17	43096380	A	G	A43096380G	BRCA1	NM_007294.3(BRCA1):c.594-458T>C	noncoding	Benign
17	43096467	G	C	G43096467C	BRCA1	NM_007294.3(BRCA1):c.594-545C>G	noncoding	Benign
17	43096544	C	G	C43096544G	BRCA1	NM_007294.3(BRCA1):c.594-622G>C	noncoding	Benign
17	43096887	G	A	G43096887A	BRCA1	NM_007294.3(BRCA1):c.593+357C>T	noncoding	Benign
17	43097077	A	G	A43097077G	BRCA1	NM_007294.3(BRCA1):c.593+167T>C	noncoding	Benign
17	43097241	C	T	C43097241T	BRCA1	NM_007299.4(BRCA1):c.593+3G>A	noncoding	Benign/Likely_benign
17	43097246	G	A	G43097246A	BRCA1	NM_007294.4(BRCA1):c.591C>T:p.Cys197=	coding	Benign
17	43097266	C	T	C43097266T	BRCA1	NM_007294.4(BRCA1):c.571G>A:p.Val191Ile	coding	Benign
17	43097280	G	T	G43097280T	BRCA1	NM_007294.4(BRCA1):c.557C>A:p.Ser186Tyr	coding	Benign
17	43097306	C	A	C43097306A	BRCA1	NM_007299.4(BRCA1):c.548-17G>T	noncoding	Benign
17	43097369	A	G	A43097369G	BRCA1	NM_007294.3(BRCA1):c.548-80T>C	noncoding	Benign
17	43097582	C	T	C43097582T	BRCA1	NM_007294.3(BRCA1):c.548-293G>A	noncoding	Benign
17	43098010	G	C	G43098010C	BRCA1	NM_007294.3(BRCA1):c.548-721C>G	noncoding	Benign
17	43099629	T	A	T43099629A	BRCA1	NM_007294.3(BRCA1):c.547+146A>T	noncoding	Benign
17	43099772	T	A	T43099772A	BRCA1	NM_007294.3(BRCA1):c.547+3A>T	noncoding	Pathogenic
17	43099773	A	T	A43099773T	BRCA1	NM_007294.4(BRCA1):c.547+2T>A	noncoding	Pathogenic
17	43099774	C	A	C43099774A	BRCA1	NM_007294.4(BRCA1):c.547+1G>T	noncoding	Pathogenic
17	43099781	C	A	C43099781A	BRCA1	NM_007294.4(BRCA1):c.541G>T:p.Glu181Ter	coding	Pathogenic
17	43099786	T	C	T43099786C	BRCA1	NM_007294.4(BRCA1):c.536A>G:p.Tyr179Cys	coding	Benign
17	43099802	G	A	G43099802A	BRCA1	NM_007294.4(BRCA1):c.520C>T:p.Gln174Ter	coding	Pathogenic
17	43099808	G	A	G43099808A	BRCA1	NM_007294.4(BRCA1):c.514C>T:p.Gln172Ter	coding	Pathogenic
17	43099814	G	A	G43099814A	BRCA1	NM_007294.4(BRCA1):c.508C>T:p.Arg170Trp	coding	Benign
17	43099817	G	A	G43099817A	BRCA1	NM_007294.4(BRCA1):c.505C>T:p.Gln169Ter	coding	Pathogenic
17	43099820	T	A	T43099820A	BRCA1	NM_007294.4(BRCA1):c.502A>T:p.Lys168Ter	coding	Pathogenic
17	43099859	G	A	G43099859A	BRCA1	NM_007294.4(BRCA1):c.463C>T:p.Gln155Ter	coding	Pathogenic
17	43099859	G	C	G43099859C	BRCA1	NM_007294.4(BRCA1):c.463C>G:p.Gln155Glu	coding	Benign
17	43099877	C	A	C43099877A	BRCA1	NM_007294.4(BRCA1):c.445G>T:p.Glu149Ter	coding	Pathogenic
17	43099880	G	A	G43099880A	BRCA1	NM_007294.3(BRCA1):c.442C>T:p.Gln148Ter	coding	Pathogenic/Likely_pathogenic
17	43099882	T	G	T43099882G	BRCA1	NM_007294.3(BRCA1):c.442-2A>C	noncoding	Pathogenic
17	43099887	A	T	A43099887T	BRCA1	NM_007294.3(BRCA1):c.442-7T>A	noncoding	Pathogenic
17	43099914	G	A	G43099914A	BRCA1	NM_007299.4(BRCA1):c.442-34C>T	noncoding	Benign
17	43103085	A	G	A43103085G	BRCA1	NM_007294.3(BRCA1):c.441+1037T>C	noncoding	Benign
17	43103094	A	T	A43103094T	BRCA1	NM_007294.3(BRCA1):c.441+1028T>A	noncoding	Benign
17	43104104	G	A	G43104104A	BRCA1	NM_007294.3(BRCA1):c.441+18C>T	noncoding	Benign/Likely_benign
17	43104105	A	G	A43104105G	BRCA1	NM_007294.3(BRCA1):c.441+17T>C	noncoding	Benign/Likely_benign
17	43104109	C	T	C43104109T	BRCA1	NM_007294.3(BRCA1):c.441+13G>A	noncoding	Benign/Likely_benign
17	43104120	A	C	A43104120C	BRCA1	NM_007294.3(BRCA1):c.441+2T>G	noncoding	Pathogenic
17	43104120	A	T	A43104120T	BRCA1	NM_007294.4(BRCA1):c.441+2T>A	noncoding	Pathogenic/Likely_pathogenic
17	43104121	C	T	C43104121T	BRCA1	NM_007294.3(BRCA1):c.441+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	43104136	C	A	C43104136A	BRCA1	NM_007294.4(BRCA1):c.427G>T:p.Glu143Ter	coding	Pathogenic
17	43104136	C	T	C43104136T	BRCA1	NM_007294.4(BRCA1):c.427G>A:p.Glu143Lys	coding	Benign
17	43104138	G	T	G43104138T	BRCA1	NM_007294.4(BRCA1):c.425C>A:p.Pro142His	coding	Benign
17	43104148	G	A	G43104148A	BRCA1	NM_007294.4(BRCA1):c.415C>T:p.Gln139Ter	coding	Pathogenic
17	43104160	T	A	T43104160A	BRCA1	NM_007294.4(BRCA1):c.403A>T:p.Lys135Ter	coding	Pathogenic
17	43104166	G	A	G43104166A	BRCA1	NM_007294.4(BRCA1):c.397C>T:p.Arg133Cys	coding	Benign
17	43104167	G	T	G43104167T	BRCA1	NM_007294.4(BRCA1):c.396C>A:p.Asn132Lys	coding	Benign
17	43104172	T	A	T43104172A	BRCA1	NM_007294.4(BRCA1):c.391A>T:p.Arg131Ter	coding	Pathogenic
17	43104173	G	C	G43104173C	BRCA1	NM_007294.4(BRCA1):c.390C>G:p.Tyr130Ter	coding	Pathogenic
17	43104173	G	T	G43104173T	BRCA1	NM_007294.4(BRCA1):c.390C>A:p.Tyr130Ter	coding	Pathogenic
17	43104187	G	A	G43104187A	BRCA1	NM_007294.4(BRCA1):c.376C>T:p.Gln126Ter	coding	Pathogenic
17	43104193	T	C	T43104193C	BRCA1	NM_007294.4(BRCA1):c.370A>G:p.Ile124Val	coding	Benign
17	43104208	T	A	T43104208A	BRCA1	NM_007294.4(BRCA1):c.355A>T:p.Lys119Ter	coding	Pathogenic
17	43104217	C	A	C43104217A	BRCA1	NM_007294.4(BRCA1):c.346G>T:p.Glu116Ter	coding	Pathogenic
17	43104235	T	A	T43104235A	BRCA1	NM_007294.4(BRCA1):c.328A>T:p.Lys110Ter	coding	Pathogenic
17	43104249	T	C	T43104249C	BRCA1	NM_007294.4(BRCA1):c.314A>G:p.Tyr105Cys	coding	Benign
17	43104258	G	C	G43104258C	BRCA1	NM_007294.4(BRCA1):c.305C>G:p.Ala102Gly	coding	Benign
17	43104260	A	C	A43104260C	BRCA1	NM_007294.4(BRCA1):c.303T>G:p.Tyr101Ter	coding	Pathogenic
17	43104260	A	T	A43104260T	BRCA1	NM_007294.4(BRCA1):c.303T>A:p.Tyr101Ter	coding	Pathogenic
17	43104262	C	A	C43104262A	BRCA1	NM_007294.3(BRCA1):c.302-1G>T	coding	Pathogenic/Likely_pathogenic
17	43104262	C	G	C43104262G	BRCA1	NM_007294.3(BRCA1):c.302-1G>C	coding	Pathogenic
17	43104262	C	T	C43104262T	BRCA1	NM_007294.3(BRCA1):c.302-1G>A	coding	Pathogenic
17	43104263	T	A	T43104263A	BRCA1	NM_007294.3(BRCA1):c.302-2A>T	noncoding	Pathogenic
17	43104263	T	C	T43104263C	BRCA1	NM_007294.3(BRCA1):c.302-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	43104263	T	G	T43104263G	BRCA1	NM_007294.3(BRCA1):c.302-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	43104264	G	C	G43104264C	BRCA1	NM_007294.3(BRCA1):c.302-3C>G	noncoding	Pathogenic
17	43104302	A	G	A43104302G	BRCA1	NM_007294.3(BRCA1):c.302-41T>C	noncoding	Benign
17	43104331	C	T	C43104331T	BRCA1	NM_007294.3(BRCA1):c.302-70G>A	noncoding	Benign
17	43104813	C	T	C43104813T	BRCA1	NM_007294.3(BRCA1):c.301+55G>A	noncoding	Benign/Likely_benign
17	43104860	A	G	A43104860G	BRCA1	NM_007294.3(BRCA1):c.301+8T>C	noncoding	Benign
17	43104861	C	T	C43104861T	BRCA1	NM_007294.4(BRCA1):c.301+7G>A	noncoding	Benign
17	43104867	C	A	C43104867A	BRCA1	NM_007294.3(BRCA1):c.301+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	43104889	G	A	G43104889A	BRCA1	NM_007294.4(BRCA1):c.280C>T:p.Gln94Ter	coding	Pathogenic
17	43104896	A	T	A43104896T	BRCA1	NM_007294.4(BRCA1):c.273T>A:p.Cys91Ter	coding	Pathogenic
17	43104909	A	T	A43104909T	BRCA1	NM_007294.4(BRCA1):c.260T>A:p.Leu87Ter	coding	Pathogenic
17	43104919	C	A	C43104919A	BRCA1	NM_007294.4(BRCA1):c.250G>T:p.Glu84Ter	coding	Pathogenic
17	43104928	G	A	G43104928A	BRCA1	NM_007294.4(BRCA1):c.241C>T:p.Gln81Ter	coding	Pathogenic
17	43104949	G	A	G43104949A	BRCA1	NM_007294.4(BRCA1):c.220C>T:p.Gln74Ter	coding	Pathogenic
17	43104957	C	A	C43104957A	BRCA1	NM_007294.3(BRCA1):c.213-1G>T	coding	Pathogenic
17	43104957	C	T	C43104957T	BRCA1	NM_007294.3(BRCA1):c.213-1G>A	coding	Pathogenic
17	43104958	T	A	T43104958A	BRCA1	NM_007294.3(BRCA1):c.213-2A>T	noncoding	Pathogenic
17	43104958	T	C	T43104958C	BRCA1	NM_007294.3(BRCA1):c.213-2A>G	noncoding	Pathogenic
17	43104958	T	G	T43104958G	BRCA1	NM_007294.3(BRCA1):c.213-2A>C	noncoding	Pathogenic
17	43104967	A	C	A43104967C	BRCA1	NM_007294.4(BRCA1):c.213-11T>G	noncoding	Pathogenic
17	43104968	T	C	T43104968C	BRCA1	NM_007294.4(BRCA1):c.213-12A>G	noncoding	Pathogenic
17	43105117	T	C	T43105117C	BRCA1	NM_007294.3(BRCA1):c.213-161A>G	noncoding	Benign
17	43105222	T	C	T43105222C	BRCA1	NM_007294.3(BRCA1):c.213-266A>G	noncoding	Benign
17	43105441	A	C	A43105441C	BRCA1	NM_007294.3(BRCA1):c.213-485T>G	noncoding	Benign
17	43105799	T	C	T43105799C	BRCA1	NM_007294.3(BRCA1):c.212+657A>G	noncoding	Benign
17	43106026	C	T	C43106026T	BRCA1	NM_007294.3(BRCA1):c.212+430G>A	noncoding	Benign
17	43106131	A	G	A43106131G	BRCA1	NM_007294.3(BRCA1):c.212+325T>C	noncoding	Benign
17	43106433	A	T	A43106433T	BRCA1	NM_007294.4(BRCA1):c.212+23T>A	noncoding	Benign
17	43106453	T	C	T43106453C	BRCA1	NM_007294.4(BRCA1):c.212+3A>G	noncoding	Pathogenic
17	43106454	A	G	A43106454G	BRCA1	NM_007294.3(BRCA1):c.212+2T>C	noncoding	Pathogenic
17	43106455	C	A	C43106455A	BRCA1	NM_007294.4(BRCA1):c.212+1G>T	noncoding	Pathogenic
17	43106455	C	G	C43106455G	BRCA1	NM_007294.4(BRCA1):c.212+1G>C	noncoding	Pathogenic
17	43106455	C	T	C43106455T	BRCA1	NM_007294.4(BRCA1):c.212+1G>A	noncoding	Pathogenic
17	43106456	C	A	C43106456A	BRCA1	NM_007294.4(BRCA1):c.212G>T:p.Arg71Met	coding	Pathogenic/Likely_pathogenic
17	43106456	C	G	C43106456G	BRCA1	NM_007294.3(BRCA1):c.212G>C:p.Arg71Thr	coding	Pathogenic
17	43106456	C	T	C43106456T	BRCA1	NM_007294.3(BRCA1):c.212G>A:p.Arg71Lys	coding	Pathogenic
17	43106457	T	C	T43106457C	BRCA1	NM_007294.4(BRCA1):c.211A>G:p.Arg71Gly	coding	Pathogenic
17	43106467	A	G	A43106467G	BRCA1	NM_007294.3(BRCA1):c.201T>C:p.Asp67=	coding	Benign
17	43106469	C	A	C43106469A	BRCA1	NM_007294.4(BRCA1):c.199G>T:p.Asp67Tyr	coding	Benign
17	43106476	A	C	A43106476C	BRCA1	NM_007294.4(BRCA1):c.192T>G:p.Cys64Trp	coding	Pathogenic/Likely_pathogenic
17	43106476	A	T	A43106476T	BRCA1	NM_007294.3(BRCA1):c.192T>A:p.Cys64Ter	coding	Pathogenic
17	43106477	C	G	C43106477G	BRCA1	NM_007294.3(BRCA1):c.191G>C:p.Cys64Ser	coding	Pathogenic
17	43106477	C	T	C43106477T	BRCA1	NM_007294.4(BRCA1):c.191G>A:p.Cys64Tyr	coding	Pathogenic
17	43106478	A	C	A43106478C	BRCA1	NM_007294.4(BRCA1):c.190T>G:p.Cys64Gly	coding	Pathogenic
17	43106478	A	G	A43106478G	BRCA1	NM_007294.4(BRCA1):c.190T>C:p.Cys64Arg	coding	Pathogenic
17	43106480	A	T	A43106480T	BRCA1	NM_007294.4(BRCA1):c.188T>A:p.Leu63Ter	coding	Pathogenic
17	43106486	C	T	C43106486T	BRCA1	NM_007294.4(BRCA1):c.182G>A:p.Cys61Tyr	coding	Pathogenic/Likely_pathogenic
17	43106487	A	C	A43106487C	BRCA1	NM_007294.4(BRCA1):c.181T>G:p.Cys61Gly	coding	Pathogenic
17	43106487	A	G	A43106487G	BRCA1	NM_007294.4(BRCA1):c.181T>C:p.Cys61Arg	coding	Pathogenic/Likely_pathogenic
17	43106487	A	T	A43106487T	BRCA1	NM_007294.4(BRCA1):c.181T>A:p.Cys61Ser	coding	Pathogenic
17	43106490	G	A	G43106490A	BRCA1	NM_007294.4(BRCA1):c.178C>T:p.Gln60Ter	coding	Pathogenic
17	43106492	G	T	G43106492T	BRCA1	NM_007294.4(BRCA1):c.176C>A:p.Ser59Ter	coding	Pathogenic
17	43106508	G	A	G43106508A	BRCA1	NM_007294.4(BRCA1):c.160C>T:p.Gln54Ter	coding	Pathogenic
17	43106527	G	T	G43106527T	BRCA1	NM_007294.4(BRCA1):c.141C>A:p.Cys47Ter	coding	Pathogenic
17	43106528	C	A	C43106528A	BRCA1	NM_007294.4(BRCA1):c.140G>T:p.Cys47Phe	coding	Pathogenic/Likely_pathogenic
17	43106528	C	T	C43106528T	BRCA1	NM_007294.4(BRCA1):c.140G>A:p.Cys47Tyr	coding	Pathogenic
17	43106529	A	T	A43106529T	BRCA1	NM_007294.4(BRCA1):c.139T>A:p.Cys47Ser	coding	Pathogenic
17	43106534	C	A	C43106534A	BRCA1	NM_007294.4(BRCA1):c.135-1G>T	coding	Pathogenic
17	43106534	C	G	C43106534G	BRCA1	NM_007297.4(BRCA1):c.-7-1G>C	coding	Pathogenic
17	43106534	C	T	C43106534T	BRCA1	NM_007294.3(BRCA1):c.135-1G>A	coding	Pathogenic/Likely_pathogenic
17	43106535	T	C	T43106535C	BRCA1	NM_007300.4(BRCA1):c.135-2A>G	noncoding	Pathogenic
17	43106865	G	A	G43106865A	BRCA1	NM_007294.3(BRCA1):c.135-332C>T	noncoding	Benign
17	43106929	T	C	T43106929C	BRCA1	NM_007294.3(BRCA1):c.135-396A>G	noncoding	Benign
17	43107032	C	T	C43107032T	BRCA1	NM_007294.3(BRCA1):c.135-499G>A	noncoding	Benign
17	43107299	G	A	G43107299A	BRCA1	NM_007294.3(BRCA1):c.135-766C>T	noncoding	Benign
17	43107458	A	G	A43107458G	BRCA1	NM_007294.3(BRCA1):c.135-925T>C	noncoding	Benign
17	43107539	C	T	C43107539T	BRCA1	NM_007294.3(BRCA1):c.135-1006G>A	noncoding	Benign
17	43107764	C	T	C43107764T	BRCA1	NM_007294.3(BRCA1):c.135-1231G>A	noncoding	Benign
17	43109546	A	T	A43109546T	BRCA1	NM_007294.3(BRCA1):c.135-3013T>A	noncoding	Benign
17	43113156	T	G	T43113156G	BRCA1	NM_007294.3(BRCA1):c.134+2570A>C	noncoding	Benign
17	43113759	A	G	A43113759G	BRCA1	NM_007294.3(BRCA1):c.134+1967T>C	noncoding	Benign
17	43114980	C	T	C43114980T	BRCA1	NM_007294.3(BRCA1):c.134+746G>A	noncoding	Benign
17	43115033	G	A	G43115033A	BRCA1	NM_007294.3(BRCA1):c.134+693C>T	noncoding	Benign
17	43115163	C	T	C43115163T	BRCA1	NM_007294.3(BRCA1):c.134+563G>A	noncoding	Benign
17	43115524	T	A	T43115524A	BRCA1	NM_007294.3(BRCA1):c.134+202A>T	noncoding	Benign
17	43115615	G	A	G43115615A	BRCA1	NM_007294.3(BRCA1):c.134+111C>T	noncoding	Benign
17	43115723	T	G	T43115723G	BRCA1	NM_007297.4(BRCA1):c.-8+8294A>C	noncoding	Pathogenic
17	43115724	A	C	A43115724C	BRCA1	NM_007294.3(BRCA1):c.134+2T>G	noncoding	Pathogenic
17	43115724	A	G	A43115724G	BRCA1	NM_007294.3(BRCA1):c.134+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	43115725	C	A	C43115725A	BRCA1	NM_007294.3(BRCA1):c.134+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	43115725	C	G	C43115725G	BRCA1	NM_007294.3(BRCA1):c.134+1G>C	noncoding	Pathogenic/Likely_pathogenic
17	43115725	C	T	C43115725T	BRCA1	NM_007294.3(BRCA1):c.134+1G>A	noncoding	Pathogenic
17	43115727	T	G	T43115727G	BRCA1	NM_007294.4(BRCA1):c.133A>C:p.Lys45Gln	coding	Benign
17	43115729	C	A	C43115729A	BRCA1	NM_007294.4(BRCA1):c.131G>T:p.Cys44Phe	coding	Pathogenic
17	43115729	C	T	C43115729T	BRCA1	NM_007294.4(BRCA1):c.131G>A:p.Cys44Tyr	coding	Pathogenic
17	43115730	A	T	A43115730T	BRCA1	NM_007294.4(BRCA1):c.130T>A:p.Cys44Ser	coding	Pathogenic
17	43115738	T	C	T43115738C	BRCA1	NM_007294.4(BRCA1):c.122A>G:p.His41Arg	coding	Pathogenic
17	43115739	G	A	G43115739A	BRCA1	NM_007294.4(BRCA1):c.121C>T:p.His41Tyr	coding	Pathogenic/Likely_pathogenic
17	43115743	A	C	A43115743C	BRCA1	NM_007294.4(BRCA1):c.117T>G:p.Cys39Trp	coding	Pathogenic
17	43115743	A	T	A43115743T	BRCA1	NM_007294.4(BRCA1):c.117T>A:p.Cys39Ter	coding	Pathogenic
17	43115744	C	A	C43115744A	BRCA1	NM_007294.4(BRCA1):c.116G>T:p.Cys39Phe	coding	Pathogenic/Likely_pathogenic
17	43115744	C	T	C43115744T	BRCA1	NM_007294.4(BRCA1):c.116G>A:p.Cys39Tyr	coding	Pathogenic
17	43115745	A	C	A43115745C	BRCA1	NM_007294.4(BRCA1):c.115T>G:p.Cys39Gly	coding	Pathogenic/Likely_pathogenic
17	43115745	A	G	A43115745G	BRCA1	NM_007294.4(BRCA1):c.115T>C:p.Cys39Arg	coding	Pathogenic
17	43115745	A	T	A43115745T	BRCA1	NM_007294.4(BRCA1):c.115T>A:p.Cys39Ser	coding	Pathogenic/Likely_pathogenic
17	43115746	C	T	C43115746T	BRCA1	NM_007294.4(BRCA1):c.114G>A:p.Lys38=	coding	Benign
17	43115750	G	T	G43115750T	BRCA1	NM_007294.4(BRCA1):c.110C>A:p.Thr37Lys	coding	Pathogenic
17	43115763	C	A	C43115763A	BRCA1	NM_007294.4(BRCA1):c.97G>T:p.Glu33Ter	coding	Pathogenic
17	43115766	T	A	T43115766A	BRCA1	NM_007294.4(BRCA1):c.94A>T:p.Lys32Ter	coding	Pathogenic
17	43115771	A	T	A43115771T	BRCA1	NM_007294.4(BRCA1):c.89T>A:p.Leu30Ter	coding	Pathogenic
17	43115775	C	A	C43115775A	BRCA1	NM_007294.4(BRCA1):c.85G>T:p.Glu29Ter	coding	Pathogenic
17	43115780	C	G	C43115780G	BRCA1	NM_007294.3(BRCA1):c.81-1G>C	coding	Pathogenic
17	43115780	C	T	C43115780T	BRCA1	NM_007294.3(BRCA1):c.81-1G>A	coding	Pathogenic/Likely_pathogenic
17	43115781	T	G	T43115781G	BRCA1	NM_007294.3(BRCA1):c.81-2A>C	noncoding	Pathogenic
17	43115788	G	C	G43115788C	BRCA1	NM_007294.3(BRCA1):c.81-9C>G	noncoding	Pathogenic
17	43115791	G	C	G43115791C	BRCA1	NM_007294.3(BRCA1):c.81-12C>G	noncoding	Benign/Likely_benign
17	43115792	G	C	G43115792C	BRCA1	NM_007294.3(BRCA1):c.81-13C>G	noncoding	Benign
17	43115792	G	T	G43115792T	BRCA1	NM_007299.4(BRCA1):c.81-13C>A	noncoding	Benign/Likely_benign
17	43115793	G	A	G43115793A	BRCA1	NM_007294.4(BRCA1):c.81-14C>T	noncoding	Benign
17	43115844	C	G	C43115844G	BRCA1	NM_007294.3(BRCA1):c.81-65G>C	noncoding	Benign
17	43115968	T	A	T43115968A	BRCA1	NM_007294.3(BRCA1):c.81-189A>T	noncoding	Benign
17	43116189	A	C	A43116189C	BRCA1	NM_007294.3(BRCA1):c.81-410T>G	noncoding	Benign
17	43116287	T	G	T43116287G	BRCA1	NM_007294.3(BRCA1):c.81-508A>C	noncoding	Benign
17	43116981	A	T	A43116981T	BRCA1	NM_007294.3(BRCA1):c.81-1202T>A	noncoding	Benign
17	43118065	T	C	T43118065C	BRCA1	NM_007294.3(BRCA1):c.81-2286A>G	noncoding	Benign
17	43119949	A	G	A43119949G	BRCA1	NM_007294.3(BRCA1):c.80+4068T>C	noncoding	Benign
17	43120293	G	C	G43120293C	BRCA1	NM_007294.3(BRCA1):c.80+3724C>G	noncoding	Benign
17	43121405	C	T	C43121405T	BRCA1	NM_007294.3(BRCA1):c.80+2612G>A	noncoding	Benign
17	43121520	A	C	A43121520C	BRCA1	NM_007294.3(BRCA1):c.80+2497T>G	noncoding	Benign
17	43123815	G	A	G43123815A	BRCA1	NM_007294.3(BRCA1):c.80+202C>T	noncoding	Benign
17	43124012	C	T	C43124012T	BRCA1	NM_007294.3(BRCA1):c.80+5G>A	noncoding	Pathogenic
17	43124015	A	C	A43124015C	BRCA1	NM_007294.3(BRCA1):c.80+2T>G	noncoding	Pathogenic
17	43124015	A	T	A43124015T	BRCA1	NM_007294.3(BRCA1):c.80+2T>A	noncoding	Pathogenic
17	43124016	C	A	C43124016A	BRCA1	NM_007294.3(BRCA1):c.80+1G>T	noncoding	Pathogenic
17	43124016	C	G	C43124016G	BRCA1	NM_007294.3(BRCA1):c.80+1G>C	noncoding	Pathogenic
17	43124016	C	T	C43124016T	BRCA1	NM_007294.4(BRCA1):c.80+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	43124020	A	T	A43124020T	BRCA1	NM_007294.4(BRCA1):c.77T>A:p.Ile26Asn	coding	Pathogenic
17	43124027	A	G	A43124027G	BRCA1	NM_007294.4(BRCA1):c.70T>C:p.Cys24Arg	coding	Pathogenic/Likely_pathogenic
17	43124032	A	G	A43124032G	BRCA1	NM_007294.4(BRCA1):c.65T>C:p.Leu22Ser	coding	Pathogenic
17	43124032	A	T	A43124032T	BRCA1	NM_007294.4(BRCA1):c.65T>A:p.Leu22Ter	coding	Pathogenic
17	43124042	G	A	G43124042A	BRCA1	NM_007294.4(BRCA1):c.55C>T:p.Gln19Ter	coding	Pathogenic
17	43124044	A	G	A43124044G	BRCA1	NM_007294.4(BRCA1):c.53T>C:p.Met18Thr	coding	Pathogenic
17	43124063	G	A	G43124063A	BRCA1	NM_007294.4(BRCA1):c.34C>T:p.Gln12Ter	coding	Pathogenic
17	43124076	G	A	G43124076A	BRCA1	NM_007294.4(BRCA1):c.21C>T:p.Arg7=	coding	Benign
17	43124089	A	C	A43124089C	BRCA1	NM_007294.4(BRCA1):c.8T>G:p.Leu3Ter	coding	Pathogenic
17	43124094	C	A	C43124094A	BRCA1	NM_007294.4(BRCA1):c.3G>T:p.Met1Ile	coding	Pathogenic
17	43124094	C	G	C43124094G	BRCA1	NM_007294.4(BRCA1):c.3G>C:p.Met1Ile	coding	Pathogenic
17	43124094	C	T	C43124094T	BRCA1	NM_007294.4(BRCA1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
17	43124095	A	C	A43124095C	BRCA1	NM_007294.4(BRCA1):c.2T>G:p.Met1Arg	coding	Pathogenic
17	43124095	A	G	A43124095G	BRCA1	NM_007294.4(BRCA1):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
17	43124095	A	T	A43124095T	BRCA1	NM_007294.4(BRCA1):c.2T>A:p.Met1Lys	coding	Pathogenic
17	43124096	T	C	T43124096C	BRCA1	NM_007294.4(BRCA1):c.1A>G:p.Met1Val	coding	Pathogenic
17	43124117	T	C	T43124117C	BRCA1	NM_007294.3(BRCA1):c.-19-2A>G	noncoding	Pathogenic
17	43124118	T	C	T43124118C	BRCA1	NM_007294.3(BRCA1):c.-19-3A>G	noncoding	Benign
17	43124125	A	G	A43124125G	BRCA1	NM_007294.4(BRCA1):c.-19-10T>C	noncoding	Benign/Likely_benign
17	43124230	A	G	A43124230G	BRCA1	NM_007294.3(BRCA1):c.-19-115T>C	noncoding	Benign
17	43124331	T	C	T43124331C	BRCA1	NM_007294.3(BRCA1):c.-19-216A>G	noncoding	Benign
17	43125086	A	C	A43125086C	BRCA1	NM_007294.3(BRCA1):c.-20+185T>G	noncoding	Benign
17	43125119	T	C	T43125119C	BRCA1	NM_007294.4(BRCA1):c.-20+152A>G	noncoding	Benign
17	43125170	G	C	G43125170C	BRCA1	NM_007294.3(BRCA1):c.-20+101C>G	noncoding	Benign
17	43125260	G	A	G43125260A	BRCA1	NM_007294.4(BRCA1):c.-20+11C>T	noncoding	Benign/Likely_benign
17	43125443	A	G	A43125443G	BRCA1	NM_007294.3(BRCA1):c.-192T>C	noncoding	Benign
17	43125524	C	T	C43125524T	BRCA1	NM_007294.3(BRCA1):c.-273G>A	noncoding	Benign
17	43125979	T	C	T43125979C	BRCA1	NM_007294.3(BRCA1):c.-728A>G	noncoding	Benign
17	43126099	T	C	T43126099C	BRCA1	NM_007294.3(BRCA1):c.-848A>G	noncoding	Benign
17	43126360	G	A	G43126360A	BRCA1	NM_007294.3(BRCA1):c.-1109C>T	noncoding	Benign
17	43190720	G	A	G43190720A	NBR1	NM_005899.5(NBR1):c.807G>A:p.Pro269=	coding	Benign
17	43191399	T	C	T43191399C	NBR1	NM_005899.5(NBR1):c.891T>C:p.Phe297=	coding	Benign
17	43191443	G	A	G43191443A	NBR1	NM_005899.5(NBR1):c.935G>A:p.Arg312His	coding	Benign
17	43191498	C	T	C43191498T	NBR1	NM_005899.5(NBR1):c.990C>T:p.His330=	coding	Benign
17	43213177	G	A	G43213177A	TMEM106A	NM_145041.4(TMEM106A):c.136G>A:p.Val46Met	coding	Benign
17	43216502	G	C	G43216502C	TMEM106A	NM_145041.4(TMEM106A):c.483G>C:p.Leu161=	coding	Benign
17	43523618	C	T	C43523618T	DHX8	NM_004941.3(DHX8):c.3444-10C>T	noncoding	Benign
17	43532902	A	T	A43532902T	ETV4	NM_001079675.5(ETV4):c.583T>A:p.Phe195Ile	coding	Benign
17	43533964	G	C	G43533964C	ETV4	NM_001079675.5(ETV4):c.278C>G:p.Thr93Ser	coding	Benign
17	43545030	G	A	G43545030A	ETV4	NM_001079675.5(ETV4):c.155-8C>T	noncoding	Benign
17	43642011	G	A	G43642011A	MEOX1	NM_004527.4(MEOX1):c.664C>T:p.Arg222Ter	coding	Pathogenic
17	43661091	T	C	T43661091C	MEOX1	NM_004527.4(MEOX1):c.444A>G:p.Ser148=	coding	Benign
17	43661208	C	G	C43661208G	MEOX1	NM_004527.4(MEOX1):c.327G>C:p.Pro109=	coding	Benign
17	43661208	C	T	C43661208T	MEOX1	NM_004527.4(MEOX1):c.327G>A:p.Pro109=	coding	Benign
17	43661285	G	A	G43661285A	MEOX1	NM_004527.4(MEOX1):c.250C>T:p.Gln84Ter	coding	Pathogenic
17	43661455	G	A	G43661455A	MEOX1	NM_004527.4(MEOX1):c.80C>T:p.Ser27Leu	coding	Benign
17	43661524	G	A	G43661524A	MEOX1	NM_004527.4(MEOX1):c.11C>T:p.Ala4Val	coding	Benign
17	43753948	G	C	G43753948C	SOST	NM_025237.3(SOST):c.*1394C>G	noncoding	Benign
17	43754338	C	T	C43754338T	SOST	NM_025237.3(SOST):c.*1004G>A	noncoding	Benign
17	43754476	G	A	G43754476A	SOST	NM_025237.3(SOST):c.*866C>T	noncoding	Benign
17	43754780	C	T	C43754780T	SOST	NM_025237.3(SOST):c.*562G>A	noncoding	Benign
17	43755022	G	A	G43755022A	SOST	NM_025237.3(SOST):c.*320C>T	noncoding	Benign
17	43755164	G	A	G43755164A	SOST	NM_025237.3(SOST):c.*178C>T	noncoding	Benign
17	43755608	G	A	G43755608A	SOST	NM_025237.3(SOST):c.376C>T:p.Arg126Ter	coding	Pathogenic
17	43755612	C	T	C43755612T	SOST	NM_025237.3(SOST):c.372G>A:p.Trp124Ter	coding	Pathogenic
17	43758672	G	A	G43758672A	SOST	NM_025237.3(SOST):c.70C>T:p.Gln24Ter	coding	Pathogenic
17	43758681	C	A	C43758681A	SOST	NM_025237.3(SOST):c.61G>T:p.Val21Leu	coding	Pathogenic
17	43758681	C	T	C43758681T	SOST	NM_025237.3(SOST):c.61G>A:p.Val21Met	coding	Pathogenic
17	43758714	C	T	C43758714T	SOST	NM_025237.3(SOST):c.28G>A:p.Val10Ile	coding	Benign
17	43953160	A	G	A43953160G	PYY	NM_004160.5(PYY):c.218T>C:p.Leu73Pro	coding	Benign
17	43953334	G	A	G43953334A	PYY	NM_004160.5(PYY):c.150C>T:p.Ala50=	coding	Benign
17	43953375	G	C	G43953375C	PYY	NM_004160.5(PYY):c.109=:p.Gly37=	coding	Benign
17	44004845	A	G	A44004845G	NAGS	NM_153006.3(NAGS):c.182A>G:p.Glu61Gly	coding	Benign/Likely_benign
17	44005675	C	T	C44005675T	NAGS	NM_153006.3(NAGS):c.465C>T:p.Ser155=	coding	Benign
17	44005779	G	A	G44005779A	NAGS	NM_153006.3(NAGS):c.569G>A:p.Trp190Ter	coding	Pathogenic
17	44005780	G	A	G44005780A	NAGS	NM_153006.3(NAGS):c.570G>A:p.Trp190Ter	coding	Pathogenic
17	44006157	G	A	G44006157A	NAGS	NM_153006.3(NAGS):c.835G>A:p.Ala279Thr	coding	Pathogenic
17	44006527	A	T	A44006527T	NAGS	NM_153006.3(NAGS):c.916-2A>T	noncoding	Pathogenic
17	44006584	G	A	G44006584A	NAGS	NM_153006.3(NAGS):c.971G>A:p.Trp324Ter	coding	Pathogenic
17	44006699	T	C	T44006699C	NAGS	NM_153006.3(NAGS):c.1086T>C:p.Phe362=	coding	Benign/Likely_benign
17	44006711	T	G	T44006711G	NAGS	NM_153006.3(NAGS):c.1096+2T>G	noncoding	Pathogenic
17	44006729	C	G	C44006729G	NAGS	NM_153006.3(NAGS):c.1096+20C>G	noncoding	Benign
17	44007009	G	A	G44007009A	NAGS	NM_153006.3(NAGS):c.1096+300G>A	noncoding	Benign
17	44007340	A	T	A44007340T	NAGS	NM_153006.3(NAGS):c.1114A>T:p.Lys372Ter	coding	Pathogenic
17	44007611	T	C	T44007611C	NAGS	NM_153006.3(NAGS):c.1289T>C:p.Leu430Pro	coding	Pathogenic
17	44007621	G	C	G44007621C	NAGS	NM_153006.3(NAGS):c.1299G>C:p.Glu433Asp	coding	Pathogenic
17	44007645	C	G	C44007645G	NAGS	NM_153006.3(NAGS):c.1323C>G:p.Tyr441Ter	coding	Pathogenic
17	44007690	C	G	C44007690G	NAGS	NM_153006.3(NAGS):c.1368C>G:p.Ser456=	coding	Benign/Likely_benign
17	44007720	G	A	G44007720A	NAGS	NM_153006.3(NAGS):c.1398G>A:p.Arg466=	coding	Benign/Likely_benign
17	44007772	T	C	T44007772C	NAGS	NM_153006.3(NAGS):c.1450T>C:p.Trp484Arg	coding	Pathogenic
17	44007984	G	C	G44007984C	NAGS	NM_153006.3(NAGS):c.1451+211G>C	noncoding	Benign
17	44008604	C	T	C44008604T	NAGS	NM_153006.3(NAGS):c.*3C>T	noncoding	Benign
17	44008812	C	T	C44008812T	NAGS	NM_153006.3(NAGS):c.*211C>T	noncoding	Benign
17	44014899	C	T	C44014899T	TMEM101	NM_032376.4(TMEM101):c.54G>A:p.Leu18=	coding	Benign
17	44070814	T	C	T44070814C	G6PC3	NM_138387.3(G6PC3):c.-152T>C	noncoding	Benign
17	44070837	C	T	C44070837T	G6PC3	NM_138387.3(G6PC3):c.-129C>T	noncoding	Benign
17	44071024	C	T	C44071024T	G6PC3	NM_138387.3(G6PC3):c.59C>T:p.Ala20Val	coding	Benign
17	44071095	C	T	C44071095T	G6PC3	NM_138387.3(G6PC3):c.130C>T:p.Pro44Ser	coding	Pathogenic
17	44071106	C	G	C44071106G	G6PC3	NM_138387.3(G6PC3):c.141C>G:p.Tyr47Ter	coding	Pathogenic
17	44071154	C	T	C44071154T	G6PC3	NM_138387.3(G6PC3):c.189C>T:p.Ile63=	coding	Benign
17	44074700	A	G	A44074700G	G6PC3	NM_138387.3(G6PC3):c.346A>G:p.Met116Val	coding	Pathogenic
17	44074735	G	A	G44074735A	G6PC3	NM_138387.3(G6PC3):c.381G>A:p.Thr127=	coding	Benign
17	44074775	A	G	A44074775G	G6PC3	NM_138387.3(G6PC3):c.416+5A>G	noncoding	Benign
17	44075328	T	C	T44075328C	G6PC3	NM_138387.3(G6PC3):c.554T>C:p.Leu185Pro	coding	Pathogenic
17	44075339	C	T	C44075339T	G6PC3	NM_138387.3(G6PC3):c.565C>T:p.Arg189Ter	coding	Pathogenic
17	44075421	C	T	C44075421T	G6PC3	NM_138387.3(G6PC3):c.647C>T:p.Thr216Ile	coding	Benign
17	44075760	G	A	G44075760A	G6PC3	NM_138387.3(G6PC3):c.758G>A:p.Arg253His	coding	Pathogenic
17	44075786	G	C	G44075786C	G6PC3	NM_001319945.2(G6PC3):c.*77G>C	coding	Pathogenic
17	44075817	A	G	A44075817G	G6PC3	NM_138387.3(G6PC3):c.815A>G:p.Gln272Arg	coding	Benign
17	44075831	C	T	C44075831T	G6PC3	NM_138387.3(G6PC3):c.829C>T:p.Gln277Ter	coding	Pathogenic
17	44076037	T	A	T44076037A	G6PC3	NM_138387.3(G6PC3):c.1035T>A:p.Ser345=	coding	Benign
17	44076045	T	C	T44076045C	G6PC3	NM_138387.3(G6PC3):c.*2T>C	noncoding	Benign/Likely_benign
17	44076194	G	C	G44076194C	G6PC3	NM_138387.3(G6PC3):c.*151G>C	noncoding	Benign
17	44078524	G	A	G44078524A	HDAC5	NM_001015053.2(HDAC5):c.3308C>T:p.Ala1103Val	coding	Benign
17	44078674	G	A	G44078674A	HDAC5	NM_001015053.2(HDAC5):c.3167-9C>T	noncoding	Benign
17	44080836	G	T	G44080836T	HDAC5	NM_001015053.2(HDAC5):c.2657C>A:p.Pro886His	coding	Benign
17	44080885	A	G	A44080885G	HDAC5	NM_001015053.2(HDAC5):c.2611-3T>C	noncoding	Benign
17	44087602	C	G	C44087602G	HDAC5	NM_001015053.2(HDAC5):c.1697G>C:p.Gly566Ala	coding	Benign
17	44093212	G	A	G44093212A	HDAC5	NM_001015053.2(HDAC5):c.530-6C>T	noncoding	Benign
17	44093683	C	T	C44093683T	HDAC5	NM_001015053.2(HDAC5):c.249G>A:p.Ala83=	coding	Benign
17	44194677	G	A	G44194677A	ATXN7L3	NM_020218.1(ATXN7L3):c.759-3C>T	noncoding	Benign
17	44195422	G	A	G44195422A	ATXN7L3	NM_020218.1(ATXN7L3):c.639C>T:p.Thr213=	coding	Benign
17	44212851	C	T	C44212851T	UBTF	NM_014233.4(UBTF):c.628G>A:p.Glu210Lys	coding	Pathogenic/Likely_pathogenic
17	44248525	C	T	C44248525T	SLC4A1	NM_000342.4(SLC4A1):c.*1933G>A	noncoding	Benign/Likely_benign
17	44248666	C	T	C44248666T	SLC4A1	NM_000342.4(SLC4A1):c.*1792G>A	noncoding	Benign/Likely_benign
17	44248737	C	T	C44248737T	SLC4A1	NM_000342.4(SLC4A1):c.*1721G>A	noncoding	Benign
17	44248890	C	T	C44248890T	SLC4A1	NM_000342.4(SLC4A1):c.*1568G>A	noncoding	Benign
17	44249221	G	A	G44249221A	SLC4A1	NM_000342.4(SLC4A1):c.*1237C>T	noncoding	Benign/Likely_benign
17	44249231	T	G	T44249231G	SLC4A1	NM_000342.4(SLC4A1):c.*1227A>C	noncoding	Benign/Likely_benign
17	44249511	G	C	G44249511C	SLC4A1	NM_000342.4(SLC4A1):c.*947C>G	noncoding	Benign/Likely_benign
17	44249561	C	T	C44249561T	SLC4A1	NM_000342.4(SLC4A1):c.*897G>A	noncoding	Benign
17	44250050	G	A	G44250050A	SLC4A1	NM_000342.4(SLC4A1):c.*408C>T	noncoding	Benign
17	44250109	C	T	C44250109T	SLC4A1	NM_000342.4(SLC4A1):c.*349G>A	noncoding	Benign
17	44250123	C	T	C44250123T	SLC4A1	NM_000342.4(SLC4A1):c.*335G>A	noncoding	Benign
17	44250125	G	T	G44250125T	SLC4A1	NM_000342.4(SLC4A1):c.*333C>A	noncoding	Benign
17	44250188	C	T	C44250188T	SLC4A1	NM_000342.4(SLC4A1):c.*270G>A	noncoding	Benign
17	44250323	C	T	C44250323T	SLC4A1	NM_000342.4(SLC4A1):c.*135G>A	noncoding	Benign
17	44250478	C	G	C44250478G	SLC4A1	NM_000342.4(SLC4A1):c.2716G>C:p.Glu906Gln	coding	Benign
17	44250482	G	A	G44250482A	SLC4A1	NM_000342.4(SLC4A1):c.2712C>T:p.Tyr904=	coding	Benign
17	44250506	A	G	A44250506G	SLC4A1	NM_000342.4(SLC4A1):c.2688T>C:p.Asp896=	coding	Benign
17	44251230	C	T	C44251230T	SLC4A1	NM_000342.4(SLC4A1):c.2584G>A:p.Val862Ile	coding	Benign
17	44251253	G	A	G44251253A	SLC4A1	NM_000342.4(SLC4A1):c.2561C>T:p.Pro854Leu	coding	Benign
17	44251305	T	C	T44251305C	SLC4A1	NM_000342.3(SLC4A1):c.2509A>G:p.Thr837Ala	coding	Pathogenic
17	44251339	G	A	G44251339A	SLC4A1	NM_000342.4(SLC4A1):c.2482-7C>T	noncoding	Benign
17	44251560	C	T	C44251560T	SLC4A1	NM_000342.4(SLC4A1):c.2340G>A:p.Leu780=	coding	Benign
17	44251583	A	G	A44251583G	SLC4A1	NM_000342.4(SLC4A1):c.2317T>C:p.Ser773Pro	coding	Pathogenic
17	44251588	C	T	C44251588T	SLC4A1	NM_000342.3(SLC4A1):c.2312G>A:p.Gly771Asp	coding	Pathogenic
17	44253099	C	T	C44253099T	SLC4A1	NM_000342.4(SLC4A1):c.2311+19G>A	noncoding	Benign
17	44253150	C	T	C44253150T	SLC4A1	NM_000342.3(SLC4A1):c.2279G>A:p.Arg760Gln	coding	Pathogenic
17	44253151	G	A	G44253151A	SLC4A1	NM_000342.4(SLC4A1):c.2278C>T:p.Arg760Trp	coding	Pathogenic
17	44253228	T	C	T44253228C	SLC4A1	NM_000342.4(SLC4A1):c.2201A>G:p.His734Arg	coding	Pathogenic
17	44253238	A	G	A44253238G	SLC4A1	NM_000342.4(SLC4A1):c.2191T>C:p.Ser731Pro	coding	Pathogenic
17	44253327	C	T	C44253327T	SLC4A1	NM_000342.4(SLC4A1):c.2102G>A:p.Gly701Asp	coding	Pathogenic
17	44253329	G	A	G44253329A	SLC4A1	NM_000342.4(SLC4A1):c.2100C>T:p.Ser700=	coding	Benign
17	44253369	A	G	A44253369G	SLC4A1	NM_000342.4(SLC4A1):c.2060T>C:p.Leu687Pro	coding	Pathogenic
17	44254600	G	A	G44254600A	SLC4A1	NM_000342.4(SLC4A1):c.1953C>T:p.His651=	coding	Benign
17	44254617	G	A	G44254617A	SLC4A1	NM_000342.4(SLC4A1):c.1936C>T:p.Arg646Trp	coding	Pathogenic
17	44255206	C	T	C44255206T	SLC4A1	NM_000342.4(SLC4A1):c.1890+1G>A	noncoding	Pathogenic
17	44255219	A	G	A44255219G	SLC4A1	NM_000342.4(SLC4A1):c.1878T>C:p.Asp626=	coding	Benign
17	44255259	G	A	G44255259A	SLC4A1	NM_000342.4(SLC4A1):c.1838C>T:p.Ser613Phe	coding	Pathogenic
17	44255272	C	T	C44255272T	SLC4A1	NM_000342.4(SLC4A1):c.1825G>A:p.Gly609Arg	coding	Pathogenic
17	44255292	C	G	C44255292G	SLC4A1	NM_000342.4(SLC4A1):c.1805G>C:p.Arg602Pro	coding	Pathogenic
17	44255703	C	T	C44255703T	SLC4A1	NM_000342.4(SLC4A1):c.1770G>A:p.Lys590=	coding	Benign
17	44255707	C	T	C44255707T	SLC4A1	NM_000342.4(SLC4A1):c.1766G>A:p.Arg589His	coding	Pathogenic
17	44255708	G	A	G44255708A	SLC4A1	NM_000342.4(SLC4A1):c.1765C>T:p.Arg589Cys	coding	Pathogenic
17	44255708	G	T	G44255708T	SLC4A1	NM_000342.4(SLC4A1):c.1765C>A:p.Arg589Ser	coding	Pathogenic
17	44255781	C	T	C44255781T	SLC4A1	NM_000342.4(SLC4A1):c.1692G>A:p.Gln564=	coding	Benign
17	44257507	C	T	C44257507T	SLC4A1	NM_000342.4(SLC4A1):c.1469G>A:p.Arg490His	coding	Pathogenic
17	44257514	C	T	C44257514T	SLC4A1	NM_000342.3(SLC4A1):c.1462G>A:p.Val488Met	coding	Pathogenic
17	44257518	G	C	G44257518C	SLC4A1	NM_000342.4(SLC4A1):c.1458C>G:p.Tyr486Ter	coding	Pathogenic
17	44257767	C	T	C44257767T	SLC4A1	NM_000342.4(SLC4A1):c.1323G>A:p.Leu441=	coding	Benign
17	44257776	C	T	C44257776T	SLC4A1	NM_000342.4(SLC4A1):c.1314G>A:p.Ser438=	coding	Benign
17	44258019	G	A	G44258019A	SLC4A1	NM_000342.4(SLC4A1):c.1249C>T:p.Leu417=	coding	Benign
17	44258029	G	A	G44258029A	SLC4A1	NM_000342.4(SLC4A1):c.1239C>T:p.Tyr413=	coding	Benign
17	44258470	G	A	G44258470A	SLC4A1	NM_000342.4(SLC4A1):c.1030C>T:p.Arg344Ter	coding	Pathogenic
17	44258512	G	A	G44258512A	SLC4A1	NM_000342.3(SLC4A1):c.988C>T:p.Gln330Ter	coding	Pathogenic
17	44258520	G	C	G44258520C	SLC4A1	NM_000342.3(SLC4A1):c.980C>G:p.Pro327Arg	coding	Pathogenic
17	44258576	C	T	C44258576T	SLC4A1	NM_000342.4(SLC4A1):c.924G>A:p.Leu308=	coding	Benign
17	44259162	C	T	C44259162T	SLC4A1	NM_000342.4(SLC4A1):c.876+1G>A	noncoding	Pathogenic
17	44259241	A	G	A44259241G	SLC4A1	NM_000342.4(SLC4A1):c.798T>C:p.Phe266=	coding	Benign/Likely_benign
17	44259934	T	C	T44259934C	SLC4A1	NM_000342.4(SLC4A1):c.486-2A>G	noncoding	Pathogenic
17	44260441	G	A	G44260441A	SLC4A1	NM_000342.3(SLC4A1):c.448C>T:p.Arg150Ter	coding	Pathogenic
17	44260501	C	T	C44260501T	SLC4A1	NM_000342.3(SLC4A1):c.388G>A:p.Gly130Arg	coding	Benign
17	44260620	G	C	G44260620C	SLC4A1	NM_000342.4(SLC4A1):c.349+15C>G	noncoding	Benign/Likely_benign
17	44260634	C	T	C44260634T	SLC4A1	NM_000342.4(SLC4A1):c.349+1G>A	noncoding	Pathogenic
17	44260698	G	A	G44260698A	SLC4A1	NM_000342.4(SLC4A1):c.286C>T:p.Arg96Cys	coding	Benign/Likely_benign
17	44260716	C	T	C44260716T	SLC4A1	NM_000342.3(SLC4A1):c.268G>A:p.Glu90Lys	coding	Pathogenic
17	44260741	C	T	C44260741T	SLC4A1	NM_000342.4(SLC4A1):c.243G>A:p.Trp81Ter	coding	Pathogenic
17	44260768	C	A	C44260768A	SLC4A1	NM_000342.4(SLC4A1):c.216G>T:p.Glu72Asp	coding	Benign
17	44260782	C	A	C44260782A	SLC4A1	NM_000342.4(SLC4A1):c.202G>T:p.Glu68Ter	coding	Pathogenic
17	44261577	T	C	T44261577C	SLC4A1	NM_000342.4(SLC4A1):c.166A>G:p.Lys56Glu	coding	Benign/Likely_benign
17	44261630	T	G	T44261630G	SLC4A1	NM_000342.4(SLC4A1):c.113A>C:p.Asp38Ala	coding	Benign
17	44262650	A	G	A44262650G	SLC4A1	NM_000342.4(SLC4A1):c.92T>C:p.Met31Thr	coding	Benign/Likely_benign
17	44262740	C	T	C44262740T	SLC4A1	NM_000342.4(SLC4A1):c.16-14G>A	noncoding	Benign
17	44262855	C	T	C44262855T	SLC4A1	NM_000342.4(SLC4A1):c.12G>A:p.Leu4=	coding	Benign
17	44262896	G	A	G44262896A	SLC4A1	NM_000342.4(SLC4A1):c.-30C>T	noncoding	Benign/Likely_benign
17	44262926	C	T	C44262926T	SLC4A1	NM_000342.4(SLC4A1):c.-60G>A	noncoding	Benign/Likely_benign
17	44268120	C	T	C44268120T	SLC4A1	NM_000342.4(SLC4A1):c.-135G>A	noncoding	Benign/Likely_benign
17	44268121	G	A	G44268121A	SLC4A1	NM_000342.4(SLC4A1):c.-136C>T	noncoding	Benign/Likely_benign
17	44345270	G	T	G44345270T	GRN	NM_002087.3(GRN):c.-72G>T	noncoding	Benign/Likely_benign
17	44345286	T	G	T44345286G	GRN	NM_002087.3(GRN):c.-56T>G	noncoding	Benign
17	44345304	T	C	T44345304C	GRN	NM_002087.3(GRN):c.-38T>C	noncoding	Benign
17	44345339	G	C	G44345339C	GRN	NM_002087.4(GRN):c.-8+5G>C	noncoding	Pathogenic
17	44349166	T	C	T44349166C	GRN	NM_002087.4(GRN):c.2T>C:p.Met1Thr	coding	Pathogenic
17	44349167	G	A	G44349167A	GRN	NM_002087.4(GRN):c.3G>A:p.Met1Ile	coding	Pathogenic
17	44349190	C	A	C44349190A	GRN	NM_002087.4(GRN):c.26C>A:p.Ala9Asp	coding	Pathogenic
17	44349206	G	A	G44349206A	GRN	NM_002087.3(GRN):c.42G>A:p.Leu14=	coding	Benign
17	44349219	C	T	C44349219T	GRN	NM_002087.4(GRN):c.55C>T:p.Arg19Trp	coding	Benign
17	44349263	C	T	C44349263T	GRN	NM_002087.4(GRN):c.99C>T:p.Asp33=	coding	Benign/Likely_benign
17	44349267	G	A	G44349267A	GRN	NM_002087.4(GRN):c.103G>A:p.Gly35Arg	coding	Pathogenic
17	44349303	G	A	G44349303A	GRN	NM_002087.4(GRN):c.138+1G>A	coding	Pathogenic
17	44349433	G	A	G44349433A	GRN	NM_002087.3(GRN):c.146G>A:p.Trp49Ter	coding	Pathogenic
17	44349515	C	T	C44349515T	GRN	NM_002087.3(GRN):c.228C>T:p.Thr76=	coding	Benign/Likely_benign
17	44349540	C	G	C44349540G	GRN	NM_002087.3(GRN):c.253C>G:p.Pro85Ala	coding	Benign
17	44349551	G	A	G44349551A	GRN	NM_002087.4(GRN):c.264G>A:p.Glu88=	coding	Pathogenic
17	44349558	G	A	G44349558A	GRN	NM_002087.3(GRN):c.264+7G>A	noncoding	Benign/Likely_benign
17	44349572	G	A	G44349572A	GRN	NM_002087.3(GRN):c.264+21G>A	noncoding	Benign
17	44349730	C	T	C44349730T	GRN	NM_002087.4(GRN):c.328C>T:p.Arg110Ter	coding	Pathogenic
17	44349752	G	C	G44349752C	GRN	NM_002087.3(GRN):c.349+1G>C	coding	Pathogenic
17	44350237	C	A	C44350237A	GRN	NM_002087.4(GRN):c.359C>A:p.Ser120Tyr	coding	Benign/Likely_benign
17	44350251	C	T	C44350251T	GRN	NM_002087.4(GRN):c.373C>T:p.Gln125Ter	coding	Pathogenic
17	44350262	T	C	T44350262C	GRN	NM_002087.4(GRN):c.384T>C:p.Asp128=	coding	Benign/Likely_benign
17	44350341	G	C	G44350341C	GRN	NM_002087.3(GRN):c.462+1G>C	coding	Pathogenic
17	44350364	G	A	G44350364A	GRN	NM_002087.3(GRN):c.462+24G>A	noncoding	Benign
17	44350524	C	T	C44350524T	GRN	NM_002087.4(GRN):c.545C>T:p.Thr182Met	coding	Benign
17	44350525	G	A	G44350525A	GRN	NM_002087.3(GRN):c.546G>A:p.Thr182=	coding	Benign/Likely_benign
17	44350690	G	A	G44350690A	GRN	NM_002087.3(GRN):c.599-1G>A	noncoding	Pathogenic
17	44350718	C	T	C44350718T	GRN	NM_002087.4(GRN):c.626C>T:p.Pro209Leu	coding	Benign
17	44350797	C	A	C44350797A	GRN	NM_002087.3(GRN):c.705C>A:p.Pro235=	coding	Benign/Likely_benign
17	44350801	G	A	G44350801A	GRN	NM_002087.3(GRN):c.708+1G>A	coding	Pathogenic/Likely_pathogenic
17	44350808	A	T	A44350808T	GRN	NM_002087.3(GRN):c.708+8A>T	noncoding	Benign
17	44351035	A	G	A44351035G	GRN	NM_002087.4(GRN):c.709-2A>G	noncoding	Pathogenic
17	44351164	G	A	G44351164A	GRN	NM_002087.3(GRN):c.835+1G>A	coding	Pathogenic
17	44351170	G	A	G44351170A	GRN	NM_002087.3(GRN):c.835+7G>A	noncoding	Benign
17	44351362	G	C	G44351362C	GRN	NM_002087.4(GRN):c.836-1G>C	noncoding	Pathogenic
17	44351409	T	G	T44351409G	GRN	NM_002087.3(GRN):c.882T>G:p.Tyr294Ter	coding	Pathogenic
17	44351425	C	T	C44351425T	GRN	NM_002087.3(GRN):c.898C>T:p.Gln300Ter	coding	Pathogenic
17	44351430	G	A	G44351430A	GRN	NM_002087.4(GRN):c.903G>A:p.Ser301=	coding	Benign/Likely_benign
17	44351438	G	A	G44351438A	GRN	NM_002087.4(GRN):c.911G>A:p.Trp304Ter	coding	Pathogenic
17	44351445	C	A	C44351445A	GRN	NM_002087.3(GRN):c.918C>A:p.Cys306Ter	coding	Pathogenic
17	44351607	C	T	C44351607T	GRN	NM_002087.3(GRN):c.991C>T:p.Gln331Ter	coding	Pathogenic
17	44351688	C	T	C44351688T	GRN	NM_002087.3(GRN):c.1072C>T:p.Gln358Ter	coding	Pathogenic
17	44352047	C	A	C44352047A	GRN	NM_002087.3(GRN):c.1212C>A:p.Cys404Ter	coding	Pathogenic
17	44352062	G	A	G44352062A	GRN	NM_002087.3(GRN):c.1227G>A:p.Thr409=	coding	Benign/Likely_benign
17	44352087	C	T	C44352087T	GRN	NM_002087.4(GRN):c.1252C>T:p.Arg418Ter	coding	Pathogenic
17	44352133	G	A	G44352133A	GRN	NM_002087.3(GRN):c.1298G>A:p.Arg433Gln	coding	Benign/Likely_benign
17	44352237	C	T	C44352237T	GRN	NM_002087.4(GRN):c.1402C>T:p.Gln468Ter	coding	Pathogenic
17	44352339	A	G	A44352339G	GRN	NM_002087.3(GRN):c.1414-2A>G	noncoding	Pathogenic
17	44352373	C	A	C44352373A	GRN	NM_002087.3(GRN):c.1446C>A:p.Cys482Ter	coding	Pathogenic
17	44352404	C	T	C44352404T	GRN	NM_002087.4(GRN):c.1477C>T:p.Arg493Ter	coding	Pathogenic
17	44352471	G	C	G44352471C	GRN	NM_002087.4(GRN):c.1544G>C:p.Gly515Ala	coding	Benign/Likely_benign
17	44352876	C	T	C44352876T	GRN	NM_002087.4(GRN):c.*78C>T	noncoding	Benign
17	44353078	G	A	G44353078A	GRN	NM_002087.3(GRN):c.*280G>A	noncoding	Benign
17	44372421	G	A	G44372421A	ITGA2B	NM_000419.5(ITGA2B):c.3063C>T:p.Val1021=	coding	Benign
17	44374470	C	T	C44374470T	ITGA2B	NM_000419.5(ITGA2B):c.2944G>A:p.Val982Met	coding	Pathogenic
17	44374673	G	A	G44374673A	ITGA2B	NM_000419.5(ITGA2B):c.2929C>T:p.Arg977Ter	coding	Pathogenic
17	44374686	C	T	C44374686T	ITGA2B	NM_000419.5(ITGA2B):c.2916G>A:p.Pro972=	coding	Benign
17	44375647	G	A	G44375647A	ITGA2B	NM_000419.5(ITGA2B):c.2671C>T:p.Gln891Ter	coding	Pathogenic
17	44375697	A	C	A44375697C	ITGA2B	NM_000419.5(ITGA2B):c.2621T>G:p.Ile874Ser	coding	Benign
17	44375704	G	T	G44375704T	ITGA2B	NM_000419.5(ITGA2B):c.2614C>A:p.Leu872Met	coding	Benign
17	44375923	C	G	C44375923G	ITGA2B	NM_000419.5(ITGA2B):c.2511G>C:p.Gln837His	coding	Benign
17	44376089	T	C	T44376089C	ITGA2B	NM_000419.5(ITGA2B):c.2444A>G:p.Tyr815Cys	coding	Pathogenic
17	44376312	G	A	G44376312A	ITGA2B	NM_000419.5(ITGA2B):c.2344C>T:p.Arg782Ter	coding	Pathogenic
17	44376322	T	C	T44376322C	ITGA2B	NM_000419.5(ITGA2B):c.2334A>G:p.Gln778=	coding	Benign/Likely_benign
17	44376323	T	G	T44376323G	ITGA2B	NM_000419.5(ITGA2B):c.2333A>C:p.Gln778Pro	coding	Pathogenic
17	44377095	G	C	G44377095C	ITGA2B	NM_000419.5(ITGA2B):c.2188-7C>G	noncoding	Benign
17	44377758	C	T	C44377758T	ITGA2B	NM_000419.5(ITGA2B):c.2127G>A:p.Lys709=	coding	Benign
17	44377772	A	G	A44377772G	ITGA2B	NM_000419.5(ITGA2B):c.2113T>C:p.Cys705Arg	coding	Pathogenic
17	44378349	G	A	G44378349A	ITGA2B	NM_000419.5(ITGA2B):c.2094+13C>T	noncoding	Benign
17	44378360	A	G	A44378360G	ITGA2B	NM_000419.5(ITGA2B):c.2094+2T>C	noncoding	Pathogenic
17	44378642	C	T	C44378642T	ITGA2B	NM_000419.5(ITGA2B):c.1946+1G>A	noncoding	Pathogenic
17	44378644	C	A	C44378644A	ITGA2B	NM_000419.5(ITGA2B):c.1945G>T:p.Val649Leu	coding	Benign
17	44378707	G	A	G44378707A	ITGA2B	NM_000419.5(ITGA2B):c.1882C>T:p.Arg628Ter	coding	Pathogenic
17	44379719	C	T	C44379719T	ITGA2B	NM_000419.5(ITGA2B):c.1848G>A:p.Val616=	coding	Benign
17	44379721	C	T	C44379721T	ITGA2B	NM_000419.5(ITGA2B):c.1846G>A:p.Val616Met	coding	Benign
17	44379752	C	T	C44379752T	ITGA2B	NM_000419.5(ITGA2B):c.1815G>A:p.Pro605=	coding	Benign
17	44380000	A	G	A44380000G	ITGA2B	NM_000419.5(ITGA2B):c.1752+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	44380127	G	A	G44380127A	ITGA2B	NM_000419.5(ITGA2B):c.1627C>T:p.Arg543Trp	coding	Benign
17	44380136	G	A	G44380136A	ITGA2B	NM_000419.5(ITGA2B):c.1618C>T:p.Gln540Ter	coding	Pathogenic
17	44380142	C	A	C44380142A	ITGA2B	NM_000419.5(ITGA2B):c.1612G>T:p.Glu538Ter	coding	Pathogenic
17	44380309	G	T	G44380309T	ITGA2B	NM_000419.5(ITGA2B):c.1545-8C>A	noncoding	Benign
17	44380385	C	T	C44380385T	ITGA2B	NM_000419.5(ITGA2B):c.1544+1G>A	noncoding	Pathogenic
17	44380491	C	T	C44380491T	ITGA2B	NM_000419.5(ITGA2B):c.1440-1G>A	coding	Pathogenic
17	44380626	G	C	G44380626C	ITGA2B	NM_000419.5(ITGA2B):c.1413C>G:p.Tyr471Ter	coding	Pathogenic
17	44380911	C	T	C44380911T	ITGA2B	NM_000419.5(ITGA2B):c.1361G>A:p.Gly454Asp	coding	Pathogenic
17	44381038	C	T	C44381038T	ITGA2B	NM_000419.5(ITGA2B):c.1234G>A:p.Gly412Arg	coding	Pathogenic
17	44381058	A	G	A44381058G	ITGA2B	NM_000419.5(ITGA2B):c.1214T>C:p.Ile405Thr	coding	Pathogenic
17	44383640	C	T	C44383640T	ITGA2B	NM_000419.5(ITGA2B):c.1063G>A:p.Glu355Lys	coding	Pathogenic
17	44384567	C	T	C44384567T	ITGA2B	NM_000419.5(ITGA2B):c.818G>A:p.Gly273Asp	coding	Pathogenic
17	44385065	G	A	G44385065A	ITGA2B	NM_000419.5(ITGA2B):c.682C>T:p.Gln228Ter	coding	Pathogenic
17	44385284	G	T	G44385284T	ITGA2B	NM_000419.5(ITGA2B):c.624+2C>A	noncoding	Pathogenic
17	44385599	G	C	G44385599C	ITGA2B	NM_000419.5(ITGA2B):c.526C>G:p.Pro176Ala	coding	Pathogenic
17	44385686	G	C	G44385686C	ITGA2B	NM_000419.5(ITGA2B):c.439C>G:p.Leu147Val	coding	Benign/Likely_benign
17	44385711	G	T	G44385711T	ITGA2B	NM_000419.5(ITGA2B):c.414C>A:p.Cys138Ter	coding	Pathogenic
17	44385717	C	T	C44385717T	ITGA2B	NM_000419.5(ITGA2B):c.409-1G>A	coding	Pathogenic
17	44385740	G	A	G44385740A	ITGA2B	NM_000419.5(ITGA2B):c.409-24C>T	noncoding	Benign
17	44399486	C	T	C44399486T	GPATCH8	NM_001002909.4(GPATCH8):c.2591G>A:p.Arg864His	coding	Benign
17	44400017	T	C	T44400017C	GPATCH8	NM_001002909.4(GPATCH8):c.2060A>G:p.His687Arg	coding	Benign
17	44557749	G	C	G44557749C	FZD2	NM_001466.4(FZD2):c.61G>C:p.Gly21Arg	coding	Benign
17	44558294	G	T	G44558294T	FZD2	NM_001466.4(FZD2):c.606G>T:p.Pro202=	coding	Benign
17	44558437	C	T	C44558437T	FZD2	NM_001466.4(FZD2):c.749C>T:p.Thr250Ile	coding	Benign
17	44558597	C	T	C44558597T	FZD2	NM_001466.4(FZD2):c.909C>T:p.Arg303=	coding	Benign
17	44559074	C	A	C44559074A	FZD2	NM_001466.4(FZD2):c.1386C>A:p.Ile462=	coding	Benign
17	44559332	G	A	G44559332A	FZD2	NM_001466.4(FZD2):c.1644G>A:p.Trp548Ter	coding	Pathogenic
17	44759765	C	T	C44759765T	ADAM11	NM_002390.6(ADAM11):c.105C>T:p.Gly35=	coding	Benign
17	44805605	G	A	G44805605A	GJC1	NM_005497.4(GJC1):c.213C>T:p.Leu71=	coding	Benign
17	44851331	A	G	A44851331G	EFTUD2	NM_004247.4(EFTUD2):c.2862T>C:p.Asp954=	coding	Benign
17	44851763	G	A	G44851763A	EFTUD2	NM_004247.4(EFTUD2):c.2770C>T:p.Gln924Ter	coding	Pathogenic
17	44852391	C	G	C44852391G	EFTUD2	NM_004247.4(EFTUD2):c.2715+18G>C	noncoding	Benign
17	44852427	A	G	A44852427G	EFTUD2	NM_004247.4(EFTUD2):c.2697T>C:p.Ser899=	coding	Benign
17	44852493	G	A	G44852493A	EFTUD2	NM_004247.4(EFTUD2):c.2631C>T:p.Ala877=	coding	Benign
17	44852563	C	T	C44852563T	EFTUD2	NM_004247.4(EFTUD2):c.2562-1G>A	coding	Pathogenic
17	44853361	G	C	G44853361C	EFTUD2	NM_004247.4(EFTUD2):c.2496C>G:p.Tyr832Ter	coding	Pathogenic
17	44853364	G	T	G44853364T	EFTUD2	NM_004247.4(EFTUD2):c.2493C>A:p.Tyr831Ter	coding	Pathogenic
17	44853516	C	T	C44853516T	EFTUD2	NM_004247.4(EFTUD2):c.2466+1G>A	noncoding	Pathogenic
17	44854268	C	A	C44854268A	EFTUD2	NM_004247.4(EFTUD2):c.2347+1G>T	noncoding	Pathogenic
17	44854597	T	A	T44854597A	EFTUD2	NM_004247.4(EFTUD2):c.2218A>T:p.Thr740Ser	coding	Benign
17	44854617	C	T	C44854617T	EFTUD2	NM_004247.4(EFTUD2):c.2198G>A:p.Trp733Ter	coding	Pathogenic
17	44857158	C	A	C44857158A	EFTUD2	NM_004247.4(EFTUD2):c.1963-1G>T	coding	Pathogenic
17	44859079	C	T	C44859079T	EFTUD2	NM_004247.4(EFTUD2):c.1962+1G>A	noncoding	Pathogenic
17	44859132	A	C	A44859132C	EFTUD2	NM_004247.4(EFTUD2):c.1910T>G:p.Leu637Arg	coding	Pathogenic
17	44860033	G	A	G44860033A	EFTUD2	NM_004247.4(EFTUD2):c.1732C>T:p.Arg578Ter	coding	Pathogenic
17	44860453	G	A	G44860453A	EFTUD2	NM_004247.4(EFTUD2):c.1698C>T:p.Thr566=	coding	Benign/Likely_benign
17	44860482	G	A	G44860482A	EFTUD2	NM_004247.4(EFTUD2):c.1669C>T:p.Gln557Ter	coding	Pathogenic
17	44860489	A	T	A44860489T	EFTUD2	NM_004247.4(EFTUD2):c.1662T>A:p.Gly554=	coding	Benign
17	44860534	G	A	G44860534A	EFTUD2	NM_004247.4(EFTUD2):c.1617C>T:p.Ile539=	coding	Benign
17	44862745	G	A	G44862745A	EFTUD2	NM_004247.4(EFTUD2):c.1575C>T:p.Cys525=	coding	Benign
17	44862778	G	T	G44862778T	EFTUD2	NM_004247.4(EFTUD2):c.1542C>A:p.Tyr514Ter	coding	Pathogenic
17	44862873	T	C	T44862873C	EFTUD2	NM_004247.4(EFTUD2):c.1447A>G:p.Ser483Gly	coding	Benign
17	44862908	T	C	T44862908C	EFTUD2	NM_004247.4(EFTUD2):c.1414-2A>G	noncoding	Pathogenic
17	44865067	T	C	T44865067C	EFTUD2	NM_004247.4(EFTUD2):c.1150-2A>G	noncoding	Pathogenic
17	44867806	C	G	C44867806G	EFTUD2	NM_004247.4(EFTUD2):c.1149+1G>C	noncoding	Pathogenic
17	44867860	G	A	G44867860A	EFTUD2	NM_004247.4(EFTUD2):c.1096C>T:p.Gln366Ter	coding	Pathogenic
17	44867896	G	A	G44867896A	EFTUD2	NM_004247.4(EFTUD2):c.1060C>T:p.Arg354Ter	coding	Pathogenic
17	44868286	C	T	C44868286T	EFTUD2	NM_004247.4(EFTUD2):c.1058+1G>A	noncoding	Pathogenic
17	44872439	C	T	C44872439T	EFTUD2	NM_004247.4(EFTUD2):c.994+7G>A	noncoding	Benign/Likely_benign
17	44872440	G	A	G44872440A	EFTUD2	NM_004247.4(EFTUD2):c.994+6C>T	noncoding	Benign
17	44872456	G	A	G44872456A	EFTUD2	NM_004247.4(EFTUD2):c.984C>T:p.Ala328=	coding	Benign
17	44876019	G	A	G44876019A	EFTUD2	NM_004247.4(EFTUD2):c.784C>T:p.Arg262Trp	coding	Pathogenic
17	44876041	A	G	A44876041G	EFTUD2	NM_004247.4(EFTUD2):c.762T>C:p.Thr254=	coding	Benign
17	44879555	C	A	C44879555A	EFTUD2	NM_004247.4(EFTUD2):c.702+1G>T	noncoding	Pathogenic/Likely_pathogenic
17	44879556	C	A	C44879556A	EFTUD2	NM_004247.4(EFTUD2):c.702G>T:p.Gly234=	coding	Pathogenic
17	44879635	T	C	T44879635C	EFTUD2	NM_004247.4(EFTUD2):c.623A>G:p.His208Arg	coding	Pathogenic
17	44881692	G	A	G44881692A	EFTUD2	NM_004247.4(EFTUD2):c.523C>T:p.Gln175Ter	coding	Pathogenic
17	44883641	C	T	C44883641T	EFTUD2	NM_004247.4(EFTUD2):c.426+8G>A	noncoding	Benign
17	44885264	A	C	A44885264C	EFTUD2	NM_004247.4(EFTUD2):c.342T>G:p.Tyr114Ter	coding	Pathogenic
17	44886713	T	G	T44886713G	EFTUD2	NM_004247.4(EFTUD2):c.143A>C:p.His48Pro	coding	Benign
17	44886751	C	G	C44886751G	EFTUD2	NM_004247.4(EFTUD2):c.106-1G>C	coding	Pathogenic
17	44894419	C	A	C44894419A	EFTUD2	NM_004247.4(EFTUD2):c.103G>T:p.Glu35Ter	coding	Pathogenic
17	44899824	G	A	G44899824A	CCDC103	NM_213607.3(CCDC103):c.-45G>A	noncoding	Benign
17	44901113	C	T	C44901113T	CCDC103	NM_213607.3(CCDC103):c.115C>T:p.Gln39Ter	coding	Pathogenic
17	44901658	T	C	T44901658C	CCDC103	NM_213607.3(CCDC103):c.276+6T>C	noncoding	Benign/Likely_benign
17	44902302	C	A	C44902302A	CCDC103	NM_213607.3(CCDC103):c.277-63C>A	noncoding	Benign
17	44902821	G	A	G44902821A	CCDC103	NM_213607.3(CCDC103):c.*4G>A	noncoding	Benign/Likely_benign
17	44907369	T	A	T44907369A	GFAP	NM_002055.5(GFAP):c.1277A>T:p.Gln426Leu	coding	Pathogenic
17	44908071	T	G	T44908071G	GFAP	NM_002055.5(GFAP):c.1250A>C:p.Asp417Ala	coding	Pathogenic
17	44908075	G	A	G44908075A	GFAP	NM_002055.5(GFAP):c.1246C>T:p.Arg416Trp	coding	Pathogenic
17	44908085	G	T	G44908085T	GFAP	NM_002055.5(GFAP):c.1236C>A:p.Thr412=	coding	Benign
17	44908128	G	A	G44908128A	GFAP	NM_002055.5(GFAP):c.1193C>T:p.Ser398Phe	coding	Pathogenic
17	44908128	G	T	G44908128T	GFAP	NM_002055.5(GFAP):c.1193C>A:p.Ser398Tyr	coding	Pathogenic
17	44908143	C	A	C44908143A	GFAP	NM_002055.5(GFAP):c.1178G>T:p.Ser393Ile	coding	Pathogenic
17	44910144	G	A	G44910144A	GFAP	NM_002055.5(GFAP):c.1171+471C>T	coding	Benign
17	44910629	T	A	T44910629A	GFAP	NM_002055.5(GFAP):c.1157A>T:p.Asn386Ile	coding	Pathogenic
17	44910632	G	A	G44910632A	GFAP	NM_002055.5(GFAP):c.1154C>T:p.Ser385Phe	coding	Pathogenic
17	44910632	G	C	G44910632C	GFAP	NM_002055.5(GFAP):c.1154C>G:p.Ser385Cys	coding	Pathogenic
17	44910638	G	A	G44910638A	GFAP	NM_002055.5(GFAP):c.1148C>T:p.Thr383Ile	coding	Pathogenic
17	44911237	G	A	G44911237A	GFAP	NM_002055.5(GFAP):c.1126C>T:p.Arg376Trp	coding	Pathogenic
17	44911242	T	C	T44911242C	GFAP	NM_002055.5(GFAP):c.1121A>G:p.Glu374Gly	coding	Pathogenic
17	44911245	T	G	T44911245G	GFAP	NM_002055.5(GFAP):c.1118A>C:p.Glu373Ala	coding	Pathogenic
17	44911246	C	G	C44911246G	GFAP	NM_002055.5(GFAP):c.1117G>C:p.Glu373Gln	coding	Pathogenic
17	44911246	C	T	C44911246T	GFAP	NM_002055.5(GFAP):c.1117G>A:p.Glu373Lys	coding	Pathogenic
17	44911251	T	A	T44911251A	GFAP	NM_002055.5(GFAP):c.1112A>T:p.Glu371Val	coding	Pathogenic
17	44911251	T	C	T44911251C	GFAP	NM_002055.5(GFAP):c.1112A>G:p.Glu371Gly	coding	Pathogenic
17	44911252	C	G	C44911252G	GFAP	NM_002055.5(GFAP):c.1111G>C:p.Glu371Gln	coding	Pathogenic
17	44911266	T	C	T44911266C	GFAP	NM_002055.5(GFAP):c.1097A>G:p.Tyr366Cys	coding	Pathogenic
17	44911267	A	G	A44911267G	GFAP	NM_002055.5(GFAP):c.1096T>C:p.Tyr366His	coding	Pathogenic
17	44911272	G	A	G44911272A	GFAP	NM_002055.5(GFAP):c.1091C>T:p.Ala364Val	coding	Pathogenic
17	44911273	C	G	C44911273G	GFAP	NM_002055.5(GFAP):c.1090G>C:p.Ala364Pro	coding	Pathogenic
17	44911273	C	T	C44911273T	GFAP	NM_002055.5(GFAP):c.1090G>A:p.Ala364Thr	coding	Pathogenic
17	44911277	C	G	C44911277G	GFAP	NM_002055.5(GFAP):c.1086G>C:p.Glu362Asp	coding	Pathogenic
17	44911278	T	C	T44911278C	GFAP	NM_002055.5(GFAP):c.1085A>G:p.Glu362Gly	coding	Pathogenic
17	44911284	T	A	T44911284A	GFAP	NM_002055.5(GFAP):c.1079A>T:p.Asp360Val	coding	Pathogenic
17	44911287	A	G	A44911287G	GFAP	NM_002055.5(GFAP):c.1076T>C:p.Leu359Pro	coding	Pathogenic
17	44911288	G	C	G44911288C	GFAP	NM_002055.5(GFAP):c.1075C>G:p.Leu359Val	coding	Pathogenic
17	44911289	G	C	G44911289C	GFAP	NM_002055.5(GFAP):c.1074C>G:p.Ala358=	coding	Pathogenic
17	44911290	G	A	G44911290A	GFAP	NM_002055.5(GFAP):c.1073C>T:p.Ala358Val	coding	Pathogenic
17	44911308	A	G	A44911308G	GFAP	NM_002055.5(GFAP):c.1055T>C:p.Leu352Pro	coding	Pathogenic
17	44911312	C	G	C44911312G	GFAP	NM_002055.5(GFAP):c.1051G>C:p.Asp351His	coding	Pathogenic
17	44911369	C	T	C44911369T	GFAP	NM_002055.5(GFAP):c.994G>A:p.Glu332Lys	coding	Pathogenic
17	44911371	A	G	A44911371G	GFAP	NM_002055.5(GFAP):c.992T>C:p.Leu331Pro	coding	Pathogenic
17	44911406	C	T	C44911406T	GFAP	NM_002055.5(GFAP):c.957G>A:p.Arg319=	coding	Benign
17	44911695	C	T	C44911695T	GFAP	NM_002055.5(GFAP):c.883G>A:p.Asp295Asn	coding	Benign
17	44911710	G	C	G44911710C	GFAP	NM_002055.5(GFAP):c.868C>G:p.Gln290Glu	coding	Pathogenic
17	44911720	C	T	C44911720T	GFAP	NM_002055.5(GFAP):c.858G>A:p.Arg286=	coding	Benign
17	44911743	T	C	T44911743C	GFAP	NM_002055.5(GFAP):c.835A>G:p.Lys279Glu	coding	Pathogenic
17	44911751	C	A	C44911751A	GFAP	NM_002055.5(GFAP):c.827G>T:p.Arg276Leu	coding	Pathogenic
17	44911775	G	T	G44911775T	GFAP	NM_002055.5(GFAP):c.803C>A:p.Ala268Asp	coding	Pathogenic
17	44911779	C	G	C44911779G	GFAP	NM_002055.5(GFAP):c.799G>C:p.Ala267Pro	coding	Pathogenic
17	44911787	A	G	A44911787G	GFAP	NM_002055.5(GFAP):c.791T>C:p.Leu264Pro	coding	Pathogenic
17	44913276	C	G	C44913276G	GFAP	NM_002055.5(GFAP):c.773G>C:p.Arg258Pro	coding	Pathogenic
17	44913277	G	A	G44913277A	GFAP	NM_002055.5(GFAP):c.772C>T:p.Arg258Cys	coding	Pathogenic
17	44913279	T	C	T44913279C	GFAP	NM_002055.5(GFAP):c.770A>G:p.Tyr257Cys	coding	Pathogenic
17	44913291	G	C	G44913291C	GFAP	NM_002055.5(GFAP):c.758C>G:p.Ala253Gly	coding	Pathogenic
17	44913310	A	G	A44913310G	GFAP	NM_002055.5(GFAP):c.739T>C:p.Ser247Pro	coding	Pathogenic
17	44913311	C	T	C44913311T	GFAP	NM_002055.5(GFAP):c.738G>A:p.Ala246=	coding	Benign
17	44913318	G	A	G44913318A	GFAP	NM_002055.5(GFAP):c.731C>T:p.Ala244Val	coding	Pathogenic
17	44913325	A	C	A44913325C	GFAP	NM_002055.5(GFAP):c.724T>G:p.Tyr242Asp	coding	Pathogenic
17	44913329	C	A	C44913329A	GFAP	NM_002055.5(GFAP):c.720G>T:p.Thr240=	coding	Benign
17	44913333	C	A	C44913333A	GFAP	NM_002055.5(GFAP):c.716G>T:p.Arg239Leu	coding	Pathogenic
17	44913333	C	G	C44913333G	GFAP	NM_002055.5(GFAP):c.716G>C:p.Arg239Pro	coding	Pathogenic
17	44913333	C	T	C44913333T	GFAP	NM_002055.5(GFAP):c.716G>A:p.Arg239His	coding	Pathogenic
17	44913334	G	A	G44913334A	GFAP	NM_002055.5(GFAP):c.715C>T:p.Arg239Cys	coding	Pathogenic
17	44913342	T	G	T44913342G	GFAP	NM_002055.5(GFAP):c.707A>C:p.Lys236Thr	coding	Pathogenic
17	44913345	A	G	A44913345G	GFAP	NM_002055.5(GFAP):c.704T>C:p.Leu235Pro	coding	Pathogenic
17	44913357	A	T	A44913357T	GFAP	NM_002055.5(GFAP):c.692T>A:p.Leu231His	coding	Pathogenic
17	44913374	G	A	G44913374A	GFAP	NM_002055.5(GFAP):c.675C>T:p.Asp225=	coding	Benign
17	44913421	C	T	C44913421T	GFAP	NM_002055.5(GFAP):c.628G>A:p.Glu210Lys	coding	Pathogenic
17	44913430	C	G	C44913430G	GFAP	NM_002055.5(GFAP):c.619G>C:p.Glu207Gln	coding	Pathogenic
17	44913430	C	T	C44913430T	GFAP	NM_002055.5(GFAP):c.619G>A:p.Glu207Lys	coding	Pathogenic
17	44913433	G	C	G44913433C	GFAP	NM_002055.5(GFAP):c.619-3C>G	noncoding	Pathogenic
17	44913439	G	C	G44913439C	GFAP	NM_002055.5(GFAP):c.619-9C>G	noncoding	Benign
17	44913442	G	A	G44913442A	GFAP	NM_002055.5(GFAP):c.619-12C>T	noncoding	Benign
17	44913733	C	T	C44913733T	GFAP	NM_002055.5(GFAP):c.613G>A:p.Glu205Lys	coding	Pathogenic
17	44914081	C	T	C44914081T	GFAP	NM_002055.5(GFAP):c.469G>A:p.Asp157Asn	coding	Benign
17	44915094	G	A	G44915094A	GFAP	NM_002055.5(GFAP):c.393C>T:p.Thr131=	coding	Benign
17	44915105	C	T	C44915105T	GFAP	NM_002055.5(GFAP):c.382G>A:p.Asp128Asn	coding	Pathogenic
17	44915145	G	T	G44915145T	GFAP	NM_002055.5(GFAP):c.342C>A:p.Asp114Glu	coding	Benign/Likely_benign
17	44915174	G	A	G44915174A	GFAP	NM_002055.5(GFAP):c.313C>T:p.Arg105Trp	coding	Benign/Likely_benign
17	44915185	A	G	A44915185G	GFAP	NM_002055.5(GFAP):c.302T>C:p.Leu101Pro	coding	Pathogenic
17	44915197	A	G	A44915197G	GFAP	NM_002055.5(GFAP):c.290T>C:p.Leu97Pro	coding	Pathogenic
17	44915209	T	G	T44915209G	GFAP	NM_002055.5(GFAP):c.278A>C:p.Gln93Pro	coding	Pathogenic
17	44915218	A	G	A44915218G	GFAP	NM_002055.5(GFAP):c.269T>C:p.Leu90Pro	coding	Pathogenic
17	44915225	G	A	G44915225A	GFAP	NM_002055.5(GFAP):c.262C>T:p.Arg88Cys	coding	Pathogenic
17	44915225	G	T	G44915225T	GFAP	NM_002055.5(GFAP):c.262C>A:p.Arg88Ser	coding	Pathogenic
17	44915227	A	C	A44915227C	GFAP	NM_002055.5(GFAP):c.260T>G:p.Val87Gly	coding	Pathogenic
17	44915228	C	G	C44915228G	GFAP	NM_002055.5(GFAP):c.259G>C:p.Val87Leu	coding	Pathogenic
17	44915228	C	T	C44915228T	GFAP	NM_002055.5(GFAP):c.259G>A:p.Val87Ile	coding	Pathogenic
17	44915231	T	C	T44915231C	GFAP	NM_002055.5(GFAP):c.256A>G:p.Lys86Glu	coding	Pathogenic
17	44915240	A	G	A44915240G	GFAP	NM_002055.5(GFAP):c.247T>C:p.Tyr83His	coding	Pathogenic
17	44915245	G	T	G44915245T	GFAP	NM_002055.5(GFAP):c.242C>A:p.Ala81Asp	coding	Pathogenic
17	44915248	A	G	A44915248G	GFAP	NM_002055.5(GFAP):c.239T>C:p.Phe80Ser	coding	Pathogenic
17	44915251	C	A	C44915251A	GFAP	NM_002055.5(GFAP):c.236G>T:p.Arg79Leu	coding	Pathogenic
17	44915251	C	G	C44915251G	GFAP	NM_002055.5(GFAP):c.236G>C:p.Arg79Pro	coding	Pathogenic
17	44915251	C	T	C44915251T	GFAP	NM_002055.5(GFAP):c.236G>A:p.Arg79His	coding	Pathogenic
17	44915252	G	A	G44915252A	GFAP	NM_002055.5(GFAP):c.235C>T:p.Arg79Cys	coding	Pathogenic
17	44915252	G	C	G44915252C	GFAP	NM_002055.5(GFAP):c.235C>G:p.Arg79Gly	coding	Pathogenic
17	44915253	G	T	G44915253T	GFAP	NM_002055.5(GFAP):c.234C>A:p.Asp78Glu	coding	Pathogenic
17	44915255	C	T	C44915255T	GFAP	NM_002055.5(GFAP):c.232G>A:p.Asp78Asn	coding	Pathogenic
17	44915257	T	C	T44915257C	GFAP	NM_002055.5(GFAP):c.230A>G:p.Asn77Ser	coding	Pathogenic
17	44915258	T	A	T44915258A	GFAP	NM_002055.5(GFAP):c.229A>T:p.Asn77Tyr	coding	Pathogenic
17	44915261	G	A	G44915261A	GFAP	NM_002055.5(GFAP):c.226C>T:p.Leu76Phe	coding	Pathogenic
17	44915261	G	C	G44915261C	GFAP	NM_002055.5(GFAP):c.226C>G:p.Leu76Val	coding	Pathogenic
17	44915266	A	G	A44915266G	GFAP	NM_002055.5(GFAP):c.221T>C:p.Met74Thr	coding	Pathogenic
17	44915269	A	C	A44915269C	GFAP	NM_002055.5(GFAP):c.218T>G:p.Met73Arg	coding	Pathogenic
17	44915269	A	G	A44915269G	GFAP	NM_002055.5(GFAP):c.218T>C:p.Met73Thr	coding	Pathogenic
17	44915269	A	T	A44915269T	GFAP	NM_002055.5(GFAP):c.218T>A:p.Met73Lys	coding	Pathogenic
17	44915273	C	T	C44915273T	GFAP	NM_002055.5(GFAP):c.214G>A:p.Glu72Lys	coding	Pathogenic
17	44915279	G	A	G44915279A	GFAP	NM_002055.5(GFAP):c.208C>T:p.Arg70Trp	coding	Pathogenic
17	44915290	C	T	C44915290T	GFAP	NM_002055.5(GFAP):c.197G>A:p.Arg66Gln	coding	Pathogenic
17	44915300	T	G	T44915300G	GFAP	NM_002055.5(GFAP):c.187A>C:p.Lys63Gln	coding	Pathogenic
17	44915346	C	T	C44915346T	GFAP	NM_002055.5(GFAP):c.141G>A:p.Pro47=	coding	Benign
17	44915347	G	A	G44915347A	GFAP	NM_002055.5(GFAP):c.140C>T:p.Pro47Leu	coding	Benign/Likely_benign
17	44915391	A	G	A44915391G	GFAP	NM_002055.5(GFAP):c.96T>C:p.Gly32=	coding	Benign
17	45149298	G	C	G45149298C	HEXIM1	NM_006460.3(HEXIM1):c.108G>C:p.Ala36=	coding	Benign
17	45238561	C	T	C45238561T	FMNL1	NM_005892.4(FMNL1):c.895-3C>T	noncoding	Benign
17	45266691	C	T	C45266691T	MAP3K14	NM_003954.5(MAP3K14):c.2434-10G>A	noncoding	Benign
17	45267107	C	T	C45267107T	MAP3K14	NM_003954.5(MAP3K14):c.2418G>A:p.Ser806=	coding	Benign
17	45267712	G	A	G45267712A	MAP3K14	NM_003954.5(MAP3K14):c.2020C>T:p.His674Tyr	coding	Benign
17	45286809	G	C	G45286809C	MAP3K14	NM_003954.5(MAP3K14):c.774C>G:p.Phe258Leu	coding	Benign
17	45287170	C	T	C45287170T	MAP3K14	NM_003954.5(MAP3K14):c.521G>A:p.Cys174Tyr	coding	Benign
17	45287272	C	T	C45287272T	MAP3K14	NM_003954.5(MAP3K14):c.419G>A:p.Ser140Asn	coding	Benign
17	45289226	C	T	C45289226T	MAP3K14	NM_003954.5(MAP3K14):c.326+10G>A	noncoding	Benign
17	45290614	G	A	G45290614A	MAP3K14	NM_003954.5(MAP3K14):c.132C>T:p.Ala44=	coding	Benign
17	45290632	G	A	G45290632A	MAP3K14	NM_003954.5(MAP3K14):c.114C>T:p.Ser38=	coding	Benign
17	45453712	G	A	G45453712A	PLEKHM1	NM_014798.3(PLEKHM1):c.2140C>T:p.Arg714Cys	coding	Pathogenic
17	45477899	C	T	C45477899T	PLEKHM1	NM_014798.3(PLEKHM1):c.296+1G>A	noncoding	Pathogenic
17	45816518	T	C	T45816518C	CRHR1	NM_004382.5(CRHR1):c.177T>C:p.Pro59=	coding	Benign
17	45816520	C	T	C45816520T	CRHR1	NM_004382.5(CRHR1):c.179C>T:p.Ala60Val	coding	Benign
17	45830084	G	A	G45830084A	CRHR1	NM_004382.5(CRHR1):c.435-10G>A	noncoding	Benign
17	45830440	C	T	C45830440T	CRHR1	NM_004382.5(CRHR1):c.579C>T:p.Ala193=	coding	Benign
17	45845108	C	T	C45845108T	SPPL2C	NM_175882.3(SPPL2C):c.202C>T:p.Pro68Ser	coding	Benign
17	45845135	C	T	C45845135T	SPPL2C	NM_175882.3(SPPL2C):c.229C>T:p.His77Tyr	coding	Benign
17	45845169	C	T	C45845169T	SPPL2C	NM_175882.3(SPPL2C):c.263C>T:p.Pro88Leu	coding	Benign
17	45845422	C	T	C45845422T	SPPL2C	NM_175882.3(SPPL2C):c.516C>T:p.Arg172=	coding	Benign
17	45845434	C	T	C45845434T	SPPL2C	NM_175882.3(SPPL2C):c.528C>T:p.Tyr176=	coding	Benign
17	45845509	C	T	C45845509T	SPPL2C	NM_175882.3(SPPL2C):c.603C>T:p.Gly201=	coding	Benign
17	45845898	G	T	G45845898T	SPPL2C	NM_175882.3(SPPL2C):c.992G>T:p.Cys331Phe	coding	Benign
17	45846044	C	T	C45846044T	SPPL2C	NM_175882.3(SPPL2C):c.1138C>T:p.Leu380=	coding	Benign
17	45846518	G	A	G45846518A	SPPL2C	NM_175882.3(SPPL2C):c.1612G>A:p.Gly538Ser	coding	Benign
17	45846888	T	G	T45846888G	SPPL2C	NM_175882.3(SPPL2C):c.1982T>G:p.Leu661Arg	coding	Benign
17	45846926	G	A	G45846926A	SPPL2C	NM_175882.3(SPPL2C):c.2020G>A:p.Val674Ile	coding	Benign
17	45894419	A	G	A45894419G	MAPT	NM_005910.5(MAPT):c.-285A>G	noncoding	Benign
17	45894571	C	A	C45894571A	MAPT	NM_005910.5(MAPT):c.-133C>A	noncoding	Benign
17	45962325	A	G	A45962325G	MAPT	NM_005910.5(MAPT):c.-13A>G	noncoding	Benign
17	45962350	C	T	C45962350T	MAPT	NM_001377265.1(MAPT):c.13C>T:p.Arg5Cys	coding	Benign
17	45962351	G	T	G45962351T	MAPT	NM_005910.5(MAPT):c.14G>T:p.Arg5Leu	coding	Pathogenic
17	45962454	G	A	G45962454A	MAPT	NM_005910.5(MAPT):c.117G>A:p.Thr39=	coding	Benign
17	45971963	C	T	C45971963T	MAPT	NM_001123066.3(MAPT):c.220+18C>T	noncoding	Benign
17	45974480	A	G	A45974480G	MAPT	NM_005910.5(MAPT):c.307+9A>G	noncoding	Benign
17	45983222	C	T	C45983222T	MAPT	NM_005910.5(MAPT):c.374-3818C>T	coding	Benign
17	45983341	G	A	G45983341A	MAPT	NM_005910.5(MAPT):c.374-3699G>A	coding	Benign
17	45983409	C	T	C45983409T	MAPT	NM_001123066.3(MAPT):c.605C>T:p.Pro202Leu	coding	Benign
17	45983441	G	A	G45983441A	MAPT	NM_005910.5(MAPT):c.374-3599G>A	coding	Benign
17	45983491	C	G	C45983491G	MAPT	NM_005910.5(MAPT):c.374-3549C>G	coding	Benign
17	45983493	A	G	A45983493G	MAPT	NM_005910.5(MAPT):c.374-3547A>G	coding	Benign
17	45983657	G	A	G45983657A	MAPT	NM_001123066.3(MAPT):c.853G>A:p.Asp285Asn	coding	Benign
17	45983659	C	T	C45983659T	MAPT	NM_001123066.3(MAPT):c.855C>T:p.Asp285=	coding	Benign
17	45983670	T	C	T45983670C	MAPT	NM_001123066.3(MAPT):c.866T>C:p.Val289Ala	coding	Benign
17	45983757	C	T	C45983757T	MAPT	NM_001123066.3(MAPT):c.953C>T:p.Ser318Leu	coding	Benign
17	45983912	C	T	C45983912T	MAPT	NM_001123066.3(MAPT):c.1108C>T:p.Arg370Trp	coding	Benign
17	45990016	T	C	T45990016C	MAPT	NM_001123066.3(MAPT):c.1321T>C:p.Tyr441His	coding	Benign
17	45990034	T	C	T45990034C	MAPT	NM_001123066.3(MAPT):c.1339T>C:p.Ser447Pro	coding	Benign
17	45991492	G	A	G45991492A	MAPT	NM_005910.5(MAPT):c.462G>A:p.Pro154=	coding	Benign/Likely_benign
17	45991524	A	G	A45991524G	MAPT	NM_001377265.1(MAPT):c.1670A>G:p.Gln557Arg	coding	Benign
17	45991558	G	A	G45991558A	MAPT	NM_005910.5(MAPT):c.528G>A:p.Pro176=	coding	Benign
17	45991562	G	A	G45991562A	MAPT	NM_005910.5(MAPT):c.532G>A:p.Ala178Thr	coding	Benign
17	45993928	T	C	T45993928C	MAPT	NM_001123066.3(MAPT):c.1512T>C:p.Thr504=	coding	Benign
17	45993950	C	T	C45993950T	MAPT	NM_005910.5(MAPT):c.556+2364C>T	coding	Benign
17	45993953	C	G	C45993953G	MAPT	NM_005910.5(MAPT):c.556+2367C>G	coding	Benign
17	45996442	C	T	C45996442T	MAPT	NM_001377265.1(MAPT):c.1776C>T:p.Pro592=	coding	Benign
17	45996467	C	T	C45996467T	MAPT	NM_001377265.1(MAPT):c.1801C>T:p.Arg601Cys	coding	Benign
17	45996523	A	G	A45996523G	MAPT	NM_005910.5(MAPT):c.681A>G:p.Ala227=	coding	Benign
17	45996604	G	A	G45996604A	MAPT	NM_005910.5(MAPT):c.762G>A:p.Lys254=	coding	Benign/Likely_benign
17	45996607	T	C	T45996607C	MAPT	NM_005910.5(MAPT):c.765T>C:p.Asn255=	coding	Benign
17	45996612	A	C	A45996612C	MAPT	NM_005910.5(MAPT):c.770A>C:p.Lys257Thr	coding	Pathogenic
17	45996638	C	G	C45996638G	MAPT	NM_005910.5(MAPT):c.796C>G:p.Leu266Val	coding	Pathogenic
17	45996640	G	A	G45996640A	MAPT	NM_005910.5(MAPT):c.798G>A:p.Leu266=	coding	Benign/Likely_benign
17	45996652	G	A	G45996652A	MAPT	NM_005910.5(MAPT):c.810G>A:p.Pro270=	coding	Benign
17	45996657	G	T	G45996657T	MAPT	NM_005910.5(MAPT):c.815G>T:p.Gly272Val	coding	Pathogenic
17	46010324	T	G	T46010324G	MAPT	NM_005910.5(MAPT):c.837T>G:p.Asn279Lys	coding	Pathogenic
17	46010375	T	C	T46010375C	MAPT	NM_016841.5(MAPT):c.649-3868T>C	coding	Pathogenic
17	46010388	C	T	C46010388T	MAPT	NM_016841.5(MAPT):c.649-3855C>T	coding	Pathogenic
17	46010389	C	T	C46010389T	MAPT	NM_005910.5(MAPT):c.902C>T:p.Pro301Leu	coding	Pathogenic
17	46010395	G	T	G46010395T	MAPT	NM_016841.5(MAPT):c.649-3848G>T	coding	Pathogenic
17	46010401	G	A	G46010401A	MAPT	NM_016841.5(MAPT):c.649-3842G>A	coding	Pathogenic
17	46010402	T	C	T46010402C	MAPT	NM_016841.5(MAPT):c.649-3841T>C	coding	Pathogenic
17	46010403	G	A	G46010403A	MAPT	NM_005910.5(MAPT):c.915+1G>A	coding	Pathogenic
17	46010405	G	A	G46010405A	MAPT	NM_005910.5(MAPT):c.915+3G>A	noncoding	Pathogenic
17	46010413	T	C	T46010413C	MAPT	NM_005910.5(MAPT):c.915+11T>C	noncoding	Pathogenic
17	46010415	A	G	A46010415G	MAPT	NM_005910.5(MAPT):c.915+13A>G	noncoding	Pathogenic
17	46010416	C	T	C46010416T	MAPT	NM_005910.5(MAPT):c.915+14C>T	noncoding	Pathogenic
17	46010418	C	T	C46010418T	MAPT	NM_005910.5(MAPT):c.915+16C>T	noncoding	Pathogenic
17	46010427	C	T	C46010427T	MAPT	NM_005910.5(MAPT):c.915+25C>T	noncoding	Benign
17	46014277	A	T	A46014277T	MAPT	NM_005910.5(MAPT):c.950A>T:p.Lys317Met	coding	Pathogenic
17	46014286	C	T	C46014286T	MAPT	NM_005910.5(MAPT):c.959C>T:p.Ser320Phe	coding	Pathogenic
17	46018629	G	A	G46018629A	MAPT	NM_005910.5(MAPT):c.1009G>A:p.Val337Met	coding	Pathogenic
17	46018645	A	T	A46018645T	MAPT	NM_005910.5(MAPT):c.1025A>T:p.Glu342Val	coding	Pathogenic
17	46018675	C	T	C46018675T	MAPT	NM_005910.5(MAPT):c.1055C>T:p.Ser352Leu	coding	Pathogenic
17	46018726	A	T	A46018726T	MAPT	NM_005910.5(MAPT):c.1106A>T:p.Lys369Ile	coding	Pathogenic
17	46024061	C	T	C46024061T	MAPT	NM_005910.5(MAPT):c.1216C>T:p.Arg406Trp	coding	Pathogenic
17	46024075	T	C	T46024075C	MAPT	NM_005910.5(MAPT):c.1230T>C:p.Asn410=	coding	Benign
17	46024197	T	C	T46024197C	MAPT	NM_005910.5(MAPT):c.*26T>C	noncoding	Benign
17	46024247	G	A	G46024247A	MAPT	NM_005910.5(MAPT):c.*76G>A	noncoding	Benign
17	46024505	A	G	A46024505G	MAPT	NM_005910.5(MAPT):c.*334A>G	noncoding	Benign
17	46024635	G	A	G46024635A	MAPT	NM_005910.5(MAPT):c.*464G>A	noncoding	Benign
17	46024903	C	A	C46024903A	MAPT	NM_005910.5(MAPT):c.*732C>A	noncoding	Benign
17	46025218	C	T	C46025218T	MAPT;KANSL1	NM_005910.5(MAPT):c.*1047C>T	noncoding	Benign/Likely_benign
17	46025238	T	C	T46025238C	MAPT;KANSL1	NM_005910.5(MAPT):c.*1067T>C	noncoding	Benign
17	46025272	A	G	A46025272G	MAPT;KANSL1	NM_005910.5(MAPT):c.*1101A>G	noncoding	Benign
17	46025323	G	C	G46025323C	MAPT;KANSL1	NM_005910.5(MAPT):c.*1152G>C	noncoding	Benign
17	46025499	A	C	A46025499C	MAPT	NM_005910.5(MAPT):c.*1328A>C	noncoding	Benign
17	46025567	T	C	T46025567C	MAPT	NM_005910.5(MAPT):c.*1396T>C	noncoding	Benign
17	46025930	T	C	T46025930C	MAPT;KANSL1	NM_005910.5(MAPT):c.*1759T>C	noncoding	Benign
17	46026250	C	T	C46026250T	MAPT;KANSL1	NM_005910.5(MAPT):c.*2079C>T	noncoding	Benign
17	46026440	G	T	G46026440T	MAPT;KANSL1	NM_005910.5(MAPT):c.*2269G>T	noncoding	Benign
17	46026459	T	C	T46026459C	MAPT	NM_005910.5(MAPT):c.*2288T>C	noncoding	Benign
17	46026460	G	A	G46026460A	MAPT	NM_005910.5(MAPT):c.*2289G>A	noncoding	Benign
17	46026977	A	C	A46026977C	MAPT;KANSL1	NM_005910.5(MAPT):c.*2806A>C	noncoding	Benign
17	46026981	G	A	G46026981A	MAPT;KANSL1	NM_005910.5(MAPT):c.*2810G>A	noncoding	Benign/Likely_benign
17	46027143	T	C	T46027143C	MAPT;KANSL1	NM_005910.5(MAPT):c.*2972T>C	noncoding	Benign
17	46028019	A	G	A46028019G	MAPT;KANSL1	NM_005910.5(MAPT):c.*3848A>G	noncoding	Benign
17	46028029	A	G	A46028029G	MAPT	NM_005910.5(MAPT):c.*3858A>G	noncoding	Benign
17	46028122	G	A	G46028122A	MAPT	NM_001377265.1(MAPT):c.*3951G>A	noncoding	Benign
17	46030734	C	T	C46030734T	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*742G>A	noncoding	Benign
17	46030836	A	G	A46030836G	MAPT	NM_001193466.2(KANSL1):c.*640T>C	noncoding	Benign
17	46030989	G	A	G46030989A	MAPT	NM_001193466.2(KANSL1):c.*487C>T	noncoding	Benign
17	46031488	C	T	C46031488T	KANSL1	NM_001193466.2(KANSL1):c.3306G>A:p.Pro1102=	coding	Benign/Likely_benign
17	46031540	A	G	A46031540G	MAPT;KANSL1	NM_001193466.2(KANSL1):c.3254T>C:p.Ile1085Thr	coding	Benign
17	46031558	G	A	G46031558A	KANSL1	NM_001193466.2(KANSL1):c.3236C>T:p.Ala1079Val	coding	Benign/Likely_benign
17	46031624	T	C	T46031624C	KANSL1	NM_001193466.2(KANSL1):c.3170A>G:p.Gln1057Arg	coding	Benign/Likely_benign
17	46031721	G	C	G46031721C	KANSL1	NM_001193466.2(KANSL1):c.3091-18C>G	noncoding	Benign
17	46031822	C	G	C46031822G	KANSL1	NM_001193466.2(KANSL1):c.3091-119G>C	noncoding	Benign
17	46031882	G	A	G46031882A	KANSL1	NM_001193466.2(KANSL1):c.3090+165C>T	noncoding	Benign
17	46032106	G	A	G46032106A	KANSL1	NM_015443.4(KANSL1):c.3031C>T:p.Arg1011Ter	coding	Pathogenic
17	46032108	G	A	G46032108A	MAPT;KANSL1	NM_001193466.2(KANSL1):c.3029C>T:p.Pro1010Leu	coding	Benign
17	46032188	G	A	G46032188A	KANSL1	NM_001193466.2(KANSL1):c.2949C>T:p.Tyr983=	coding	Benign
17	46032403	C	G	C46032403G	KANSL1	NM_001193466.2(KANSL1):c.2838-104G>C	noncoding	Benign
17	46032905	G	A	G46032905A	KANSL1	NM_001193466.2(KANSL1):c.2837+175C>T	noncoding	Benign
17	46033078	A	G	A46033078G	KANSL1	NM_015443.4(KANSL1):c.2837+2T>C	noncoding	Pathogenic
17	46033162	C	T	C46033162T	KANSL1	NM_001193466.2(KANSL1):c.2755G>A:p.Ala919Thr	coding	Benign/Likely_benign
17	46033166	G	A	G46033166A	MAPT;KANSL1	NM_001193466.2(KANSL1):c.2751C>T:p.Phe917=	coding	Benign
17	46033175	G	A	G46033175A	MAPT;KANSL1	NM_001193466.2(KANSL1):c.2742C>T:p.Asp914=	coding	Benign
17	46033304	C	G	C46033304G	KANSL1	NM_001193466.2(KANSL1):c.2724+99G>C	noncoding	Benign
17	46033429	C	T	C46033429T	KANSL1	NM_001193466.2(KANSL1):c.2698G>A:p.Gly900Arg	coding	Benign
17	46033444	G	C	G46033444C	KANSL1	NM_001193466.2(KANSL1):c.2683C>G:p.Leu895Val	coding	Benign
17	46033522	A	T	A46033522T	KANSL1	NM_001193466.2(KANSL1):c.2667-62T>A	noncoding	Benign
17	46033664	C	A	C46033664A	KANSL1	NM_001193466.2(KANSL1):c.2667-204G>T	noncoding	Benign
17	46033743	A	G	A46033743G	KANSL1	NM_001193466.2(KANSL1):c.2667-283T>C	noncoding	Benign
17	46034199	G	A	G46034199A	KANSL1	NM_001193466.2(KANSL1):c.2628C>T:p.Arg876=	coding	Benign
17	46034247	A	G	A46034247G	KANSL1	NM_001193466.2(KANSL1):c.2580T>C:p.Phe860=	coding	Benign
17	46034461	C	A	C46034461A	KANSL1	NM_001193466.2(KANSL1):c.2542-176G>T	noncoding	Benign
17	46038364	G	A	G46038364A	KANSL1	NM_001193466.2(KANSL1):c.2541+174C>T	noncoding	Benign
17	46038538	C	T	C46038538T	KANSL1	NM_001193466.2(KANSL1):c.2541G>A:p.Ser847=	coding	Benign
17	46038598	G	A	G46038598A	KANSL1	NM_001193466.2(KANSL1):c.2481C>T:p.Ser827=	coding	Benign
17	46038665	A	G	A46038665G	KANSL1	NM_001193466.2(KANSL1):c.2414T>C:p.Met805Thr	coding	Benign/Likely_benign
17	46038872	G	A	G46038872A	KANSL1	NM_001193466.2(KANSL1):c.2392+155C>T	noncoding	Benign
17	46038946	T	C	T46038946C	KANSL1	NM_001193466.2(KANSL1):c.2392+81A>G	noncoding	Benign
17	46039087	C	G	C46039087G	KANSL1	NM_015443.4(KANSL1):c.2332G>C:p.Val778Leu	coding	Benign
17	46039088	G	A	G46039088A	KANSL1	NM_001193466.2(KANSL1):c.2331C>T:p.Pro777=	coding	Benign/Likely_benign
17	46039125	G	A	G46039125A	KANSL1	NM_001193466.2(KANSL1):c.2294C>T:p.Ala765Val	coding	Benign/Likely_benign
17	46039477	C	A	C46039477A	KANSL1	NM_001193466.2(KANSL1):c.2203+225G>T	noncoding	Benign
17	46039584	T	G	T46039584G	KANSL1	NM_001193466.2(KANSL1):c.2203+118A>C	noncoding	Benign
17	46039701	C	T	C46039701T	KANSL1	NM_001193466.2(KANSL1):c.2203+1G>A	noncoding	Pathogenic
17	46039746	C	T	C46039746T	KANSL1	NM_001193466.2(KANSL1):c.2159G>A:p.Arg720His	coding	Benign/Likely_benign
17	46039753	A	G	A46039753G	KANSL1	NM_001193466.2(KANSL1):c.2152T>C:p.Ser718Pro	coding	Benign
17	46039769	C	T	C46039769T	KANSL1	NM_001193466.2(KANSL1):c.2136G>A:p.Pro712=	coding	Benign
17	46039796	T	C	T46039796C	KANSL1	NM_001193466.2(KANSL1):c.2109A>G:p.Leu703=	coding	Benign
17	46040031	A	G	A46040031G	KANSL1	NM_001193466.2(KANSL1):c.2021-147T>C	noncoding	Benign
17	46050615	G	A	G46050615A	KANSL1	NM_001193466.2(KANSL1):c.1938C>T:p.Pro646=	coding	Benign
17	46050653	C	T	C46050653T	KANSL1	NM_001193466.2(KANSL1):c.1900G>A:p.Ala634Thr	coding	Benign
17	46050696	C	A	C46050696A	KANSL1	NM_001193466.2(KANSL1):c.1857G>T:p.Arg619=	coding	Benign/Likely_benign
17	46050698	G	A	G46050698A	KANSL1	NM_001193466.2(KANSL1):c.1855C>T:p.Arg619Trp	coding	Benign/Likely_benign
17	46050759	A	C	A46050759C	KANSL1	NM_001193466.2(KANSL1):c.1849-55T>G	noncoding	Benign
17	46066533	C	T	C46066533T	KANSL1	NM_001193466.2(KANSL1):c.1848+4G>A	noncoding	Benign
17	46066554	C	T	C46066554T	KANSL1	NM_001193466.2(KANSL1):c.1831G>A:p.Val611Ile	coding	Benign/Likely_benign
17	46066569	G	A	G46066569A	KANSL1	NM_001193466.2(KANSL1):c.1816C>T:p.Arg606Ter	coding	Pathogenic
17	46066647	C	T	C46066647T	KANSL1	NM_001193466.2(KANSL1):c.1738G>A:p.Val580Ile	coding	Benign/Likely_benign
17	46066742	G	C	G46066742C	KANSL1	NM_001193466.2(KANSL1):c.1653-10C>G	noncoding	Benign
17	46066786	T	C	T46066786C	KANSL1	NM_001193466.2(KANSL1):c.1653-54A>G	noncoding	Benign
17	46066848	T	C	T46066848C	KANSL1	NM_001193466.2(KANSL1):c.1653-116A>G	noncoding	Benign
17	46066885	G	T	G46066885T	KANSL1	NM_001193466.2(KANSL1):c.1653-153C>A	noncoding	Benign
17	46066979	A	G	A46066979G	KANSL1	NM_001193466.2(KANSL1):c.1653-247T>C	noncoding	Benign
17	46067021	C	A	C46067021A	KANSL1	NM_001193466.2(KANSL1):c.1653-289G>T	noncoding	Benign
17	46067268	G	A	G46067268A	KANSL1	NM_001193466.2(KANSL1):c.1652+281C>T	noncoding	Benign
17	46067548	C	T	C46067548T	KANSL1	NM_001193466.2(KANSL1):c.1652+1G>A	noncoding	Pathogenic
17	46067627	G	C	G46067627C	KANSL1	NM_001193466.2(KANSL1):c.1574C>G:p.Pro525Arg	coding	Benign/Likely_benign
17	46068007	T	C	T46068007C	KANSL1	NM_001193466.2(KANSL1):c.1534-340A>G	noncoding	Benign
17	46082189	C	A	C46082189A	KANSL1	NM_001193466.2(KANSL1):c.1533+252G>T	noncoding	Benign
17	46082265	T	G	T46082265G	KANSL1	NM_001193466.2(KANSL1):c.1533+176A>C	noncoding	Benign
17	46082306	A	G	A46082306G	KANSL1	NM_001193466.2(KANSL1):c.1533+135T>C	noncoding	Benign
17	46082329	C	T	C46082329T	KANSL1	NM_001193466.2(KANSL1):c.1533+112G>A	noncoding	Benign
17	46082340	C	G	C46082340G	KANSL1	NM_001193466.2(KANSL1):c.1533+101G>C	noncoding	Benign
17	46082359	C	T	C46082359T	KANSL1	NM_001193466.2(KANSL1):c.1533+82G>A	noncoding	Benign
17	46082483	T	C	T46082483C	KANSL1	NM_001193466.2(KANSL1):c.1491A>G:p.Pro497=	coding	Benign
17	46082622	G	A	G46082622A	KANSL1	NM_001193466.2(KANSL1):c.1432-80C>T	noncoding	Benign
17	46082684	G	A	G46082684A	KANSL1	NM_001193466.2(KANSL1):c.1432-142C>T	noncoding	Benign
17	46094568	C	T	C46094568T	KANSL1	NM_001193466.2(KANSL1):c.1423G>A:p.Ala475Thr	coding	Benign
17	46094638	C	T	C46094638T	KANSL1	NM_015443.4(KANSL1):c.1353G>A:p.Trp451Ter	coding	Pathogenic
17	46094673	C	T	C46094673T	KANSL1	NM_001193466.2(KANSL1):c.1318G>A:p.Ala440Thr	coding	Benign
17	46094961	T	A	T46094961A	KANSL1	NM_001193466.2(KANSL1):c.1290-260A>T	noncoding	Benign
17	46095025	C	T	C46095025T	KANSL1	NM_001193466.2(KANSL1):c.1290-324G>A	noncoding	Benign
17	46170676	G	A	G46170676A	KANSL1	NM_001193466.2(KANSL1):c.1289+179C>T	noncoding	Benign
17	46170837	T	C	T46170837C	KANSL1	NM_001193466.2(KANSL1):c.1289+18A>G	noncoding	Benign
17	46170889	T	C	T46170889C	KANSL1	NM_001193466.2(KANSL1):c.1255A>G:p.Thr419Ala	coding	Benign
17	46171028	T	C	T46171028C	KANSL1	NM_001193466.2(KANSL1):c.1116A>G:p.Lys372=	coding	Benign
17	46171102	G	A	G46171102A	KANSL1	NM_001193466.2(KANSL1):c.1042C>T:p.Arg348Ter	coding	Pathogenic
17	46171138	C	A	C46171138A	KANSL1	NM_001193466.2(KANSL1):c.1006G>T:p.Glu336Ter	coding	Pathogenic
17	46171144	T	C	T46171144C	KANSL1	NM_001193466.2(KANSL1):c.1000A>G:p.Asn334Asp	coding	Benign/Likely_benign
17	46171195	T	C	T46171195C	KANSL1	NM_001193466.2(KANSL1):c.949A>G:p.Ile317Val	coding	Benign/Likely_benign
17	46171228	G	A	G46171228A	KANSL1	NM_001193466.2(KANSL1):c.916C>T:p.Gln306Ter	coding	Pathogenic
17	46171276	G	A	G46171276A	KANSL1	NM_001193466.2(KANSL1):c.868C>T:p.Arg290Ter	coding	Pathogenic/Likely_pathogenic
17	46171295	C	T	C46171295T	KANSL1	NM_001193466.2(KANSL1):c.849G>A:p.Arg283=	coding	Benign/Likely_benign
17	46171344	T	C	T46171344C	KANSL1	NM_001193466.2(KANSL1):c.800A>G:p.Lys267Arg	coding	Benign
17	46171365	C	A	C46171365A	KANSL1	NM_001193466.2(KANSL1):c.779G>T:p.Gly260Val	coding	Benign
17	46171371	A	G	A46171371G	KANSL1	NM_001193466.2(KANSL1):c.773T>C:p.Leu258Ser	coding	Benign/Likely_benign
17	46171403	T	C	T46171403C	KANSL1	NM_001193466.2(KANSL1):c.741A>G:p.Arg247=	coding	Benign
17	46171417	G	T	G46171417T	KANSL1	NM_001193466.2(KANSL1):c.727C>A:p.Gln243Lys	coding	Benign/Likely_benign
17	46171425	G	A	G46171425A	KANSL1	NM_001193466.2(KANSL1):c.719C>T:p.Pro240Leu	coding	Benign/Likely_benign
17	46171438	A	G	A46171438G	KANSL1	NM_001193466.2(KANSL1):c.706T>C:p.Ser236Pro	coding	Benign
17	46171448	G	A	G46171448A	KANSL1	NM_001193466.2(KANSL1):c.696C>T:p.Ser232=	coding	Benign
17	46171464	C	T	C46171464T	KANSL1	NM_001193466.2(KANSL1):c.680G>A:p.Ser227Asn	coding	Benign/Likely_benign
17	46171471	T	C	T46171471C	KANSL1	NM_001193466.2(KANSL1):c.673A>G:p.Asn225Asp	coding	Benign
17	46171509	T	C	T46171509C	KANSL1	NM_001193466.2(KANSL1):c.635A>G:p.His212Arg	coding	Benign/Likely_benign
17	46171524	T	C	T46171524C	KANSL1	NM_001193466.2(KANSL1):c.620A>G:p.Asn207Ser	coding	Benign/Likely_benign
17	46171537	C	G	C46171537G	KANSL1	NM_001193466.2(KANSL1):c.607G>C:p.Gly203Arg	coding	Benign
17	46171573	C	A	C46171573A	KANSL1	NM_001193466.2(KANSL1):c.571G>T:p.Gly191Cys	coding	Benign/Likely_benign
17	46171667	C	A	C46171667A	KANSL1	NM_001193466.2(KANSL1):c.477G>T:p.Lys159Asn	coding	Benign/Likely_benign
17	46171730	A	C	A46171730C	KANSL1	NM_001193466.2(KANSL1):c.414T>G:p.Leu138=	coding	Benign
17	46171833	T	G	T46171833G	KANSL1	NM_001193466.2(KANSL1):c.311A>C:p.Lys104Thr	coding	Benign
17	46171847	T	C	T46171847C	KANSL1	NM_001193466.2(KANSL1):c.297A>G:p.Gln99=	coding	Benign
17	46171848	T	C	T46171848C	KANSL1	NM_001193466.2(KANSL1):c.296A>G:p.Gln99Arg	coding	Benign/Likely_benign
17	46172114	G	A	G46172114A	KANSL1	NM_001193466.2(KANSL1):c.30C>T:p.Asp10=	coding	Benign/Likely_benign
17	46172155	A	G	A46172155G	KANSL1	NM_001193466.2(KANSL1):c.-12T>C	noncoding	Benign
17	46172178	G	A	G46172178A	KANSL1	NM_001193466.2(KANSL1):c.-35C>T	noncoding	Benign
17	46172255	A	G	A46172255G	KANSL1	NM_001193466.2(KANSL1):c.-89-23T>C	noncoding	Benign
17	46172434	G	A	G46172434A	KANSL1	NM_001193466.2(KANSL1):c.-89-202C>T	noncoding	Benign
17	46172472	C	T	C46172472T	KANSL1	NM_001193466.2(KANSL1):c.-89-240G>A	noncoding	Benign
17	46192426	C	A	C46192426A	KANSL1	NM_001193466.2(KANSL1):c.-97G>T	noncoding	Benign
17	46192815	G	A	G46192815A	KANSL1	NM_015443.3(KANSL1):c.-90+8C>T	noncoding	Benign
17	46297344	A	G	A46297344G	LRRC37A	NM_001103154.2(ARL17B):c.21+2182T>C	coding	Benign
17	46713956	T	C	T46713956C	NSF	NM_006178.4(NSF):c.1731T>C:p.Ser577=	coding	Benign
17	46773743	G	A	G46773743A	WNT3	NM_030753.5(WNT3):c.247C>T:p.Gln83Ter	coding	Pathogenic
17	46872607	C	T	C46872607T	WNT9B	NM_003396.3(WNT9B):c.168C>T:p.Asp56=	coding	Benign
17	46876271	G	A	G46876271A	WNT9B	NM_003396.3(WNT9B):c.627G>A:p.Thr209=	coding	Benign
17	46923163	G	C	G46923163C	GOSR2	NM_004287.5(GOSR2):c.-30G>C	noncoding	Benign
17	46923167	G	C	G46923167C	GOSR2	NM_004287.5(GOSR2):c.-26G>C	noncoding	Benign
17	46923170	C	A	C46923170A	GOSR2	NM_004287.5(GOSR2):c.-23C>A	noncoding	Benign
17	46923181	G	C	G46923181C	GOSR2	NM_004287.5(GOSR2):c.-12G>C	noncoding	Benign
17	46923199	C	A	C46923199A	GOSR2	NM_004287.5(GOSR2):c.7C>A:p.Pro3Thr	coding	Benign/Likely_benign
17	46929572	C	T	C46929572T	GOSR2	NM_004287.5(GOSR2):c.82C>T:p.Gln28Ter	coding	Pathogenic
17	46929841	C	G	C46929841G	GOSR2	NM_004287.4(GOSR2):c.94+257C>G	noncoding	Benign
17	46929847	A	G	A46929847G	GOSR2	NM_004287.4(GOSR2):c.94+263A>G	noncoding	Benign
17	46931115	C	T	C46931115T	GOSR2	NM_004287.5(GOSR2):c.111C>T:p.Ile37=	coding	Benign
17	46931188	A	T	A46931188T	GOSR2	NM_004287.5(GOSR2):c.184A>T:p.Lys62Ter	coding	Pathogenic
17	46931204	G	A	G46931204A	GOSR2	NM_004287.5(GOSR2):c.200G>A:p.Arg67Lys	coding	Benign
17	46931376	G	C	G46931376C	GOSR2	NM_004287.4(GOSR2):c.203+169G>C	noncoding	Benign
17	46932200	G	A	G46932200A	GOSR2	NM_004287.4(GOSR2):c.336+1G>A	coding	Pathogenic/Likely_pathogenic
17	46932244	G	T	G46932244T	GOSR2	NM_004287.4(GOSR2):c.336+45G>T	noncoding	Benign
17	46934721	A	G	A46934721G	GOSR2	NM_004287.4(GOSR2):c.337-308A>G	noncoding	Benign
17	46934882	T	G	T46934882G	GOSR2	NM_004287.4(GOSR2):c.337-147T>G	noncoding	Benign
17	46935061	A	G	A46935061G	GOSR2	NM_004287.5(GOSR2):c.369A>G:p.Ser123=	coding	Benign/Likely_benign
17	46935122	G	T	G46935122T	GOSR2	NM_004287.5(GOSR2):c.430G>T:p.Gly144Trp	coding	Pathogenic
17	46939061	T	C	T46939061C	GOSR2	NM_004287.4(GOSR2):c.*301T>C	coding	Benign
17	46939875	G	A	G46939875A	GOSR2	NM_004287.4(GOSR2):c.*1115G>A	coding	Benign
17	46940279	T	C	T46940279C	GOSR2	NM_004287.4(GOSR2):c.*1519T>C	coding	Benign
17	46940471	G	A	G46940471A	GOSR2	NM_004287.4(GOSR2):c.*1711G>A	coding	Benign
17	46940493	A	G	A46940493G	GOSR2	NM_004287.4(GOSR2):c.*1733A>G	coding	Benign
17	46941097	T	C	T46941097C	GOSR2	NM_004287.4(GOSR2):c.*2337T>C	noncoding	Benign
17	47154771	T	C	T47154771C	CDC27	NM_001256.6(CDC27):c.858A>G:p.Pro286=	coding	Benign
17	47209453	G	A	G47209453A	MYL4	NM_002476.2(MYL4):c.31G>A:p.Glu11Lys	coding	Pathogenic
17	47213813	C	T	C47213813T	MYL4	NM_002476.2(MYL4):c.150C>T:p.Ala50=	coding	Benign
17	47221678	G	A	G47221678A	MYL4	NM_002476.2(MYL4):c.314-4G>A	noncoding	Benign
17	47222375	C	T	C47222375T	MYL4	NM_002476.2(MYL4):c.488-5C>T	noncoding	Benign
17	47222376	G	A	G47222376A	MYL4	NM_002476.2(MYL4):c.488-4G>A	noncoding	Benign
17	47222448	A	T	A47222448T	MYL4	NM_002476.2(MYL4):c.556A>T:p.Asn186Tyr	coding	Benign
17	47223010	C	T	C47223010T	MYL4	NM_002476.2(MYL4):c.566-4C>T	noncoding	Benign
17	47253855	G	C	G47253855C	ITGB3	NM_000212.2(ITGB3):c.-7G>C	noncoding	Benign
17	47253901	G	A	G47253901A	ITGB3	NM_000212.2(ITGB3):c.40G>A:p.Val14Met	coding	Benign
17	47253918	G	T	G47253918T	ITGB3	NM_000212.2(ITGB3):c.57G>T:p.Ala19=	coding	Benign/Likely_benign
17	47253919	C	T	C47253919T	ITGB3	NM_000212.2(ITGB3):c.58C>T:p.Leu20=	coding	Benign
17	47253933	C	T	C47253933T	ITGB3	NM_000212.3(ITGB3):c.72C>T:p.Gly24=	coding	Benign
17	47253941	G	A	G47253941A	ITGB3	NM_000212.3(ITGB3):c.79+1G>A	coding	Pathogenic
17	47283364	T	C	T47283364C	ITGB3	NM_000212.2(ITGB3):c.176T>C:p.Leu59Pro	coding	Benign
17	47283530	T	C	T47283530C	ITGB3	NM_000212.2(ITGB3):c.342T>C:p.Ile114=	coding	Benign
17	47284413	G	A	G47284413A	ITGB3	NM_000212.3(ITGB3):c.362-30G>A	noncoding	Benign
17	47284509	T	G	T47284509G	ITGB3	NM_000212.2(ITGB3):c.428T>G:p.Leu143Trp	coding	Pathogenic
17	47284586	C	T	C47284586T	ITGB3	NM_000212.3(ITGB3):c.505C>T:p.Arg169Ter	coding	Pathogenic
17	47284587	G	A	G47284587A	ITGB3	NM_000212.2(ITGB3):c.506G>A:p.Arg169Gln	coding	Benign
17	47284646	C	T	C47284646T	ITGB3	NM_000212.3(ITGB3):c.565C>T:p.Pro189Ser	coding	Pathogenic
17	47286363	C	T	C47286363T	ITGB3	NM_000212.2(ITGB3):c.718C>T:p.Arg240Trp	coding	Pathogenic
17	47286364	G	A	G47286364A	ITGB3	NM_000212.2(ITGB3):c.719G>A:p.Arg240Gln	coding	Pathogenic
17	47286385	G	A	G47286385A	ITGB3	NM_000212.2(ITGB3):c.740G>A:p.Gly247Asp	coding	Pathogenic
17	47286423	G	A	G47286423A	ITGB3	NM_000212.3(ITGB3):c.777+1G>A	coding	Pathogenic
17	47287128	A	T	A47287128T	ITGB3	NM_000212.2(ITGB3):c.836A>T:p.Lys279Met	coding	Pathogenic
17	47287174	T	C	T47287174C	ITGB3	NM_000212.2(ITGB3):c.882T>C:p.Pro294=	coding	Benign
17	47290971	A	C	A47290971C	ITGB3	NM_000212.2(ITGB3):c.1143A>C:p.Val381=	coding	Benign
17	47290971	A	T	A47290971T	ITGB3	NM_000212.3(ITGB3):c.1143A>T:p.Val381=	coding	Benign
17	47291027	G	A	G47291027A	ITGB3	NM_000212.2(ITGB3):c.1199G>A:p.Cys400Tyr	coding	Pathogenic
17	47292175	C	G	C47292175G	ITGB3	NM_000212.2(ITGB3):c.1297C>G:p.Pro433Ala	coding	Benign
17	47292411	A	G	A47292411G	ITGB3	NM_000212.2(ITGB3):c.1533A>G:p.Glu511=	coding	Benign
17	47292423	G	A	G47292423A	ITGB3	NM_000212.2(ITGB3):c.1545G>A:p.Arg515=	coding	Benign
17	47292519	C	A	C47292519A	ITGB3	NM_000212.3(ITGB3):c.1641C>A:p.Cys547Ter	coding	Pathogenic
17	47292519	C	T	C47292519T	ITGB3	NM_000212.3(ITGB3):c.1641C>T:p.Cys547=	coding	Benign
17	47299314	G	A	G47299314A	ITGB3	NM_000212.3(ITGB3):c.1697G>A:p.Gly566Asp	coding	Pathogenic
17	47299519	C	T	C47299519T	ITGB3	NM_000212.2(ITGB3):c.1902C>T:p.Cys634=	coding	Benign
17	47300459	T	C	T47300459C	ITGB3	NM_000212.2(ITGB3):c.1914-19T>C	noncoding	Benign
17	47300488	G	T	G47300488T	ITGB3	NM_000212.2(ITGB3):c.1924G>T:p.Glu642Ter	coding	Pathogenic
17	47300523	C	T	C47300523T	ITGB3	NM_000212.3(ITGB3):c.1959C>T:p.Asp653=	coding	Benign
17	47300524	G	A	G47300524A	ITGB3	NM_000212.2(ITGB3):c.1960G>A:p.Glu654Lys	coding	Benign
17	47300579	G	A	G47300579A	ITGB3	NM_000212.3(ITGB3):c.2014+1G>A	coding	Pathogenic
17	47302841	G	C	G47302841C	ITGB3	NM_000212.2(ITGB3):c.2134+1G>C	coding	Pathogenic
17	47307544	C	T	C47307544T	ITGB3	NM_000212.2(ITGB3):c.2208C>T:p.Ala736=	coding	Benign
17	47307567	T	C	T47307567C	ITGB3	NM_000212.2(ITGB3):c.2231T>C:p.Leu744Pro	coding	Pathogenic
17	47307581	G	C	G47307581C	ITGB3	NM_000212.2(ITGB3):c.2245G>C:p.Asp749His	coding	Pathogenic
17	47307646	C	T	C47307646T	ITGB3	NM_000212.2(ITGB3):c.2301+9C>T	noncoding	Benign
17	47310169	T	C	T47310169C	ITGB3	NM_000212.2(ITGB3):c.2332T>C:p.Ser778Pro	coding	Pathogenic
17	47310721	C	T	C47310721T	ITGB3	NM_000212.2(ITGB3):c.*517C>T	noncoding	Benign
17	47310843	G	A	G47310843A	ITGB3	NM_000212.2(ITGB3):c.*639G>A	noncoding	Benign
17	47310875	C	T	C47310875T	ITGB3	NM_000212.2(ITGB3):c.*671C>T	noncoding	Benign
17	47310917	A	G	A47310917G	ITGB3	NM_000212.2(ITGB3):c.*713A>G	noncoding	Benign
17	47311220	T	A	T47311220A	ITGB3	NM_000212.2(ITGB3):c.*1016T>A	noncoding	Benign
17	47311683	T	C	T47311683C	ITGB3	NM_000212.2(ITGB3):c.*1479T>C	noncoding	Benign
17	47312189	T	C	T47312189C	ITGB3	NM_000212.2(ITGB3):c.*1985T>C	noncoding	Benign
17	47312531	G	A	G47312531A	ITGB3	NM_000212.2(ITGB3):c.*2327G>A	noncoding	Benign
17	47312659	A	C	A47312659C	ITGB3	NM_000212.2(ITGB3):c.*2455A>C	noncoding	Benign
17	47531418	C	T	C47531418T	NPEPPS	NM_006310.4(NPEPPS):c.118C>T:p.Leu40=	coding	Benign
17	47587239	A	G	A47587239G	NPEPPS	NM_006310.4(NPEPPS):c.990A>G:p.Ala330=	coding	Benign
17	47587320	A	G	A47587320G	NPEPPS	NM_006310.4(NPEPPS):c.1071A>G:p.Gln357=	coding	Benign
17	47590709	G	C	G47590709C	NPEPPS	NM_006310.4(NPEPPS):c.1096-8G>C	noncoding	Benign
17	47613665	G	T	G47613665T	NPEPPS	NM_006310.4(NPEPPS):c.2239-4G>T	noncoding	Benign
17	47676479	T	C	T47676479C	KPNB1	NM_002265.6(KPNB1):c.1983T>C:p.Tyr661=	coding	Benign
17	47696785	G	A	G47696785A	TBKBP1	NM_014726.2(TBKBP1):c.300G>A:p.Glu100=	coding	Benign
17	47698785	C	T	C47698785T	TBKBP1	NM_014726.2(TBKBP1):c.634+10C>T	noncoding	Benign
17	47745267	C	T	C47745267T	TBX21	NM_013351.2(TBX21):c.1509C>T:p.Ser503=	coding	Benign
17	47941677	T	C	T47941677C	PNPO	NM_018129.4(PNPO):c.2T>C:p.Met1Thr	coding	Pathogenic
17	47941773	A	T	A47941773T	PNPO	NM_018129.4(PNPO):c.98A>T:p.Asp33Val	coding	Pathogenic
17	47942996	G	A	G47942996A	PNPO	NM_018129.4(PNPO):c.139-310G>A	noncoding	Benign
17	47943332	C	T	C47943332T	PNPO	NM_018129.4(PNPO):c.165C>T:p.Ser55=	coding	Benign
17	47944636	G	A	G47944636A	PNPO	NM_018129.4(PNPO):c.284G>A:p.Arg95His	coding	Pathogenic
17	47944658	C	T	C47944658T	PNPO	NM_018129.4(PNPO):c.306C>T:p.Phe102=	coding	Benign/Likely_benign
17	47944699	G	A	G47944699A	PNPO	NM_018129.4(PNPO):c.347G>A:p.Arg116Gln	coding	Benign
17	47944964	G	A	G47944964A	PNPO	NM_018129.4(PNPO):c.363+249G>A	noncoding	Benign
17	47945523	C	T	C47945523T	PNPO	NM_018129.4(PNPO):c.364-36C>T	noncoding	Benign
17	47945558	G	A	G47945558A	PNPO	NM_018129.4(PNPO):c.364-1G>A	noncoding	Pathogenic
17	47945794	G	A	G47945794A	PNPO	NM_018129.4(PNPO):c.418-67G>A	noncoding	Benign
17	47945914	C	A	C47945914A	PNPO	NM_018129.4(PNPO):c.471C>A:p.Tyr157Ter	coding	Pathogenic
17	47945929	C	G	C47945929G	PNPO	NM_018129.4(PNPO):c.486C>G:p.Pro162=	coding	Benign
17	47945963	C	T	C47945963T	PNPO	NM_018129.4(PNPO):c.520C>T:p.Gln174Ter	coding	Pathogenic
17	47946004	G	A	G47946004A	PNPO	NM_018129.4(PNPO):c.546+15G>A	noncoding	Benign
17	47946144	G	T	G47946144T	PNPO	NM_018129.4(PNPO):c.546+155G>T	noncoding	Benign
17	47946328	G	A	G47946328A	PNPO	NM_018129.4(PNPO):c.552G>A:p.Leu184=	coding	Benign
17	47946669	C	T	C47946669T	PNPO	NM_018129.4(PNPO):c.673C>T:p.Arg225Cys	coding	Pathogenic
17	47946670	G	A	G47946670A	PNPO	NM_018129.4(PNPO):c.674G>A:p.Arg225His	coding	Pathogenic
17	47946670	G	T	G47946670T	PNPO	NM_018129.4(PNPO):c.674G>T:p.Arg225Leu	coding	Pathogenic
17	47946681	C	T	C47946681T	PNPO	NM_018129.4(PNPO):c.685C>T:p.Arg229Trp	coding	Pathogenic
17	47946682	G	A	G47946682A	PNPO	NM_018129.4(PNPO):c.686G>A:p.Arg229Gln	coding	Pathogenic
17	47946773	T	C	T47946773C	PNPO	NM_018129.4(PNPO):c.777T>C:p.Leu259=	coding	Benign/Likely_benign
17	47946780	T	C	T47946780C	PNPO	NM_018129.4(PNPO):c.784T>C:p.Ter262Gln	coding	Pathogenic
17	47946888	A	T	A47946888T	PNPO	NM_018129.4(PNPO):c.*106A>T	noncoding	Benign
17	47947123	T	C	T47947123C	PNPO	NM_018129.4(PNPO):c.*341T>C	noncoding	Benign
17	47947134	G	C	G47947134C	PNPO	NM_018129.4(PNPO):c.*352G>C	noncoding	Benign
17	47947294	A	C	A47947294C	PNPO	NM_018129.4(PNPO):c.*512A>C	noncoding	Benign
17	47947393	C	T	C47947393T	PNPO	NM_018129.4(PNPO):c.*611C>T	noncoding	Benign
17	47948362	G	A	G47948362A	PNPO	NM_018129.4(PNPO):c.*1580G>A	noncoding	Benign
17	47948450	G	A	G47948450A	PNPO	NM_018129.4(PNPO):c.*1668G>A	noncoding	Benign
17	47948665	G	C	G47948665C	PNPO	NM_018129.4(PNPO):c.*1883G>C	noncoding	Benign
17	47948790	A	G	A47948790G	PNPO	NM_018129.4(PNPO):c.*2008A>G	noncoding	Benign
17	47949073	G	A	G47949073A	PNPO	NM_018129.4(PNPO):c.*2291G>A	noncoding	Benign
17	48051265	C	T	C48051265T	NFE2L1	NM_003204.3(NFE2L1):c.147C>T:p.Ala49=	coding	Benign
17	48529751	C	T	C48529751T	HOXB1	NM_002144.4(HOXB1):c.702G>A:p.Val234=	coding	Benign
17	48529833	C	T	C48529833T	HOXB1	NM_002144.4(HOXB1):c.620G>A:p.Arg207His	coding	Pathogenic
17	48529834	G	A	G48529834A	HOXB1	NM_002144.4(HOXB1):c.619C>T:p.Arg207Cys	coding	Pathogenic
17	48530622	G	T	G48530622T	HOXB1	NM_002144.4(HOXB1):c.283C>A:p.Pro95Thr	coding	Benign
17	48530659	C	T	C48530659T	HOXB1	NM_002144.4(HOXB1):c.246G>A:p.Ser82=	coding	Benign
17	48530751	G	A	G48530751A	HOXB1	NM_002144.4(HOXB1):c.154C>T:p.Leu52=	coding	Benign
17	48530839	G	C	G48530839C	HOXB1	NM_002144.4(HOXB1):c.66C>G:p.Tyr22Ter	coding	Pathogenic
17	48613261	G	C	G48613261C	HOXB8	NM_024016.4(HOXB8):c.673C>G:p.Leu225Val	coding	Benign
17	48622990	G	A	G48622990A	HOXB9	NM_024017.5(HOXB9):c.663C>T:p.Leu221=	coding	Benign
17	48626038	A	G	A48626038G	HOXB9	NM_024017.5(HOXB9):c.232T>C:p.Tyr78His	coding	Benign
17	48724646	C	G	C48724646G	PRAC2	NM_001282275.2(PRAC2):c.236C>G:p.Thr79Arg	coding	Benign
17	48726910	C	T	C48726910T	HOXB13	NM_006361.5(HOXB13):c.735G>A:p.Lys245=	coding	Benign/Likely_benign
17	48727052	C	T	C48727052T	HOXB13	NM_006361.5(HOXB13):c.602-9G>A	noncoding	Benign
17	48727859	C	T	C48727859T	HOXB13	NM_006361.5(HOXB13):c.601+134G>A	noncoding	Benign
17	48728081	A	G	A48728081G	HOXB13	NM_006361.5(HOXB13):c.513T>C:p.Ser171=	coding	Benign
17	48728228	G	A	G48728228A	HOXB13	NM_006361.5(HOXB13):c.366C>T:p.Ser122=	coding	Benign
17	48728264	G	T	G48728264T	HOXB13	NM_006361.5(HOXB13):c.330C>A:p.Pro110=	coding	Benign
17	48728640	G	A	G48728640A	HOXB13	NM_006361.5(HOXB13):c.-47C>T	noncoding	Benign
17	48999106	T	C	T48999106C	IGF2BP1	NM_006546.4(IGF2BP1):c.176-3T>C	noncoding	Benign
17	49026498	A	G	A49026498G	IGF2BP1	NM_006546.4(IGF2BP1):c.318A>G:p.Thr106=	coding	Benign
17	49039981	C	T	C49039981T	IGF2BP1	NM_006546.4(IGF2BP1):c.708C>T:p.Asn236=	coding	Benign
17	49040068	T	A	T49040068A	IGF2BP1	NM_006546.4(IGF2BP1):c.795T>A:p.His265Gln	coding	Benign
17	49168885	C	T	C49168885T	B4GALNT2	NM_001159387.2(B4GALNT2):c.1300C>T:p.Arg434Ter	coding	Benign
17	49169594	C	T	C49169594T	B4GALNT2	NM_001159387.2(B4GALNT2):c.1387C>T:p.Arg463Trp	coding	Benign
17	49216674	A	G	A49216674G	ABI3	NM_016428.3(ABI3):c.261A>G:p.Glu87=	coding	Benign
17	49216707	C	T	C49216707T	ABI3	NM_016428.3(ABI3):c.285+9C>T	noncoding	Benign
17	49219599	T	C	T49219599C	ABI3	NM_016428.3(ABI3):c.522T>C:p.Pro174=	coding	Benign
17	49405058	G	A	G49405058A	PHB	NM_002634.4(PHB):c.753C>T:p.Leu251=	coding	Benign
17	49502059	C	T	C49502059T	NGFR	NM_002507.4(NGFR):c.67-4C>T	noncoding	Benign
17	49506423	C	T	C49506423T	NGFR	NM_002507.4(NGFR):c.333C>T:p.Tyr111=	coding	Benign
17	49506485	C	T	C49506485T	NGFR	NM_002507.4(NGFR):c.395C>T:p.Ser132Leu	coding	Benign
17	49511882	C	G	C49511882G	NGFR	NM_002507.4(NGFR):c.822-10C>G	noncoding	Benign
17	49511949	G	A	G49511949A	NGFR	NM_002507.4(NGFR):c.879G>A:p.Thr293=	coding	Benign
17	49512817	C	T	C49512817T	NGFR	NM_002507.4(NGFR):c.1092C>T:p.Gly364=	coding	Benign
17	49512910	C	T	C49512910T	NGFR	NM_002507.4(NGFR):c.1185C>T:p.Ser395=	coding	Benign
17	49821751	G	A	G49821751A	KAT7	NM_007067.5(KAT7):c.1347G>A:p.Ala449=	coding	Benign
17	49838644	A	C	A49838644C	TAC4	NM_170685.2(TAC4):c.340T>G:p.Ter114Glu	coding	Benign
17	49969672	C	T	C49969672T	DLX4	NM_138281.3(DLX4):c.204C>T:p.Ser68=	coding	Benign
17	49973260	C	G	C49973260G	DLX4	NM_138281.3(DLX4):c.471C>G:p.Thr157=	coding	Benign
17	49990107	C	T	C49990107T	DLX3	NM_005220.3(DLX3):c.*1410G>A	noncoding	Benign
17	49990182	G	A	G49990182A	DLX3	NM_005220.3(DLX3):c.*1335C>T	noncoding	Benign
17	49990191	A	T	A49990191T	DLX3	NM_005220.3(DLX3):c.*1326T>A	noncoding	Benign
17	49990217	G	C	G49990217C	DLX3	NM_005220.3(DLX3):c.*1300C>G	noncoding	Benign
17	49990221	C	T	C49990221T	DLX3	NM_005220.3(DLX3):c.*1296G>A	noncoding	Benign
17	49990501	C	G	C49990501G	DLX3	NM_005220.3(DLX3):c.*1016G>C	noncoding	Benign
17	49990530	G	A	G49990530A	DLX3	NM_005220.3(DLX3):c.*987C>T	noncoding	Benign
17	49990531	G	A	G49990531A	DLX3	NM_005220.3(DLX3):c.*986C>T	noncoding	Benign
17	49990589	T	C	T49990589C	DLX3	NM_005220.3(DLX3):c.*928A>G	noncoding	Benign
17	49990649	G	A	G49990649A	DLX3	NM_005220.3(DLX3):c.*868C>T	noncoding	Benign
17	49990794	A	C	A49990794C	DLX3	NM_005220.3(DLX3):c.*723T>G	noncoding	Benign
17	49990810	G	A	G49990810A	DLX3	NM_005220.3(DLX3):c.*707C>T	noncoding	Benign
17	49990838	G	A	G49990838A	DLX3	NM_005220.3(DLX3):c.*679C>T	noncoding	Benign
17	49990990	C	T	C49990990T	DLX3	NM_005220.3(DLX3):c.*527G>A	noncoding	Benign
17	49991023	T	C	T49991023C	DLX3	NM_005220.3(DLX3):c.*494A>G	noncoding	Benign
17	49991258	G	T	G49991258T	DLX3	NM_005220.3(DLX3):c.*259C>A	noncoding	Benign
17	49991457	C	T	C49991457T	DLX3	NM_005220.3(DLX3):c.*60G>A	noncoding	Benign
17	49991645	C	G	C49991645G	DLX3	NM_005220.3(DLX3):c.736G>C:p.Asp246His	coding	Benign
17	49991799	C	T	C49991799T	DLX3	NM_005220.3(DLX3):c.582G>A:p.Pro194=	coding	Benign
17	49993440	C	A	C49993440A	DLX3	NM_005220.3(DLX3):c.476G>T:p.Arg159Leu	coding	Pathogenic
17	49993514	C	T	C49993514T	DLX3	NM_005220.3(DLX3):c.402G>A:p.Thr134=	coding	Benign
17	49994731	C	A	C49994731A	DLX3	NM_005220.3(DLX3):c.268G>T:p.Ala90Ser	coding	Benign
17	49994861	G	A	G49994861A	DLX3	NM_005220.3(DLX3):c.138C>T:p.Pro46=	coding	Benign
17	49995062	G	A	G49995062A	DLX3	NM_005220.3(DLX3):c.-64C>T	noncoding	Benign
17	49995132	G	T	G49995132T	DLX3	NM_005220.3(DLX3):c.-134C>A	noncoding	Benign
17	49995187	C	A	C49995187A	DLX3	NM_005220.3(DLX3):c.-189G>T	noncoding	Benign
17	50064092	C	T	C50064092T	ITGA3	NM_002204.4(ITGA3):c.222C>T:p.Ala74=	coding	Benign
17	50064592	T	C	T50064592C	ITGA3	NM_002204.4(ITGA3):c.399T>C:p.Pro133=	coding	Benign
17	50070866	C	T	C50070866T	ITGA3	NM_002204.4(ITGA3):c.687C>T:p.Arg229=	coding	Benign
17	50071488	C	T	C50071488T	ITGA3	NM_002204.4(ITGA3):c.929C>T:p.Ala310Val	coding	Benign
17	50072073	G	A	G50072073A	ITGA3	NM_002204.4(ITGA3):c.1047G>A:p.Ala349=	coding	Benign
17	50072139	A	T	A50072139T	ITGA3	NM_002204.4(ITGA3):c.1113A>T:p.Leu371Phe	coding	Benign
17	50073907	C	T	C50073907T	ITGA3	NM_002204.4(ITGA3):c.1157-9C>T	noncoding	Benign
17	50073932	T	C	T50073932C	ITGA3	NM_002204.4(ITGA3):c.1173T>C:p.Ala391=	coding	Benign
17	50074188	C	T	C50074188T	ITGA3	NM_002204.4(ITGA3):c.1290C>T:p.Phe430=	coding	Benign
17	50074283	G	A	G50074283A	ITGA3	NM_002204.4(ITGA3):c.1382+3G>A	noncoding	Benign
17	50074452	C	T	C50074452T	ITGA3	NM_002204.4(ITGA3):c.1387C>T:p.Arg463Trp	coding	Pathogenic
17	50074544	T	C	T50074544C	ITGA3	NM_002204.4(ITGA3):c.1469+10T>C	noncoding	Benign
17	50075598	G	A	G50075598A	ITGA3	NM_002204.4(ITGA3):c.1538-1G>A	noncoding	Pathogenic
17	50075729	C	G	C50075729G	ITGA3	NM_002204.4(ITGA3):c.1668C>G:p.Leu556=	coding	Benign
17	50076318	C	T	C50076318T	ITGA3	NM_002204.4(ITGA3):c.1675-8C>T	noncoding	Benign
17	50076642	G	C	G50076642C	ITGA3	NM_002204.4(ITGA3):c.1883G>C:p.Arg628Pro	coding	Pathogenic
17	50076648	C	T	C50076648T	ITGA3	NM_002204.4(ITGA3):c.1889C>T:p.Ala630Val	coding	Benign
17	50077122	G	A	G50077122A	ITGA3	NM_002204.4(ITGA3):c.2070+1G>A	coding	Pathogenic
17	50079193	G	A	G50079193A	ITGA3	NM_002204.4(ITGA3):c.2518G>A:p.Gly840Ser	coding	Benign
17	50087784	C	G	C50087784G	ITGA3	NM_002204.4(ITGA3):c.2960C>G:p.Pro987Arg	coding	Benign
17	50097430	C	T	C50097430T	PDK2	NM_002611.5(PDK2):c.126C>T:p.Ser42=	coding	Benign
17	50097524	C	A	C50097524A	PDK2	NM_002611.5(PDK2):c.220C>A:p.Arg74=	coding	Benign
17	50108314	C	T	C50108314T	PDK2	NM_002611.5(PDK2):c.763-5C>T	noncoding	Benign
17	50141355	G	T	G50141355T	PPP1R9B	NM_032595.5(PPP1R9B):c.1644C>A:p.Leu548=	coding	Benign
17	50143591	T	C	T50143591C	PPP1R9B	NM_032595.5(PPP1R9B):c.1625+7A>G	noncoding	Benign
17	50149854	C	T	C50149854T	PPP1R9B	NM_032595.5(PPP1R9B):c.660G>A:p.Ser220=	coding	Benign
17	50166033	G	A	G50166033A	SGCA	NM_000023.4(SGCA):c.-8G>A	noncoding	Benign
17	50166079	C	G	C50166079G	SGCA	NM_000023.4(SGCA):c.37+2C>G	noncoding	Pathogenic
17	50166100	G	A	G50166100A	SGCA	NM_000023.4(SGCA):c.37+23G>A	noncoding	Benign/Likely_benign
17	50166143	C	T	C50166143T	SGCA	NM_000023.4(SGCA):c.37+66C>T	noncoding	Benign
17	50166375	G	A	G50166375A	SGCA	NM_000023.4(SGCA):c.37+298G>A	noncoding	Benign
17	50167170	C	G	C50167170G	SGCA	NM_000023.4(SGCA):c.38-198C>G	noncoding	Benign
17	50167322	G	C	G50167322C	SGCA	NM_000023.4(SGCA):c.38-46G>C	noncoding	Benign
17	50167422	T	C	T50167422C	SGCA	NM_000023.4(SGCA):c.92T>C:p.Leu31Pro	coding	Pathogenic/Likely_pathogenic
17	50167430	C	T	C50167430T	SGCA	NM_000023.4(SGCA):c.100C>T:p.Arg34Cys	coding	Pathogenic/Likely_pathogenic
17	50167431	G	A	G50167431A	SGCA	NM_000023.4(SGCA):c.101G>A:p.Arg34His	coding	Pathogenic
17	50167610	C	G	C50167610G	SGCA	NM_000023.4(SGCA):c.186C>G:p.Tyr62Ter	coding	Pathogenic
17	50167653	C	T	C50167653T	SGCA	NM_000023.4(SGCA):c.229C>T:p.Arg77Cys	coding	Pathogenic
17	50167716	C	T	C50167716T	SGCA	NM_000023.4(SGCA):c.292C>T:p.Arg98Cys	coding	Pathogenic/Likely_pathogenic
17	50167717	G	A	G50167717A	SGCA	NM_000023.4(SGCA):c.293G>A:p.Arg98His	coding	Pathogenic/Likely_pathogenic
17	50167819	C	T	C50167819T	SGCA	NM_000023.4(SGCA):c.312+83C>T	noncoding	Benign
17	50167908	C	A	C50167908A	SGCA	NM_000023.4(SGCA):c.313-39C>A	noncoding	Benign
17	50168005	T	C	T50168005C	SGCA	NM_000023.4(SGCA):c.371T>C:p.Ile124Thr	coding	Pathogenic/Likely_pathogenic
17	50168186	A	G	A50168186G	SGCA	NM_000023.4(SGCA):c.385+167A>G	noncoding	Benign
17	50168391	C	T	C50168391T	SGCA	NM_000023.4(SGCA):c.403C>T:p.Gln135Ter	coding	Pathogenic/Likely_pathogenic
17	50168397	G	A	G50168397A	SGCA	NM_000023.4(SGCA):c.409G>A:p.Glu137Lys	coding	Pathogenic/Likely_pathogenic
17	50168398	A	G	A50168398G	SGCA	NM_000023.4(SGCA):c.410A>G:p.Glu137Gly	coding	Pathogenic
17	50168506	T	C	T50168506C	SGCA	NM_000023.4(SGCA):c.518T>C:p.Leu173Pro	coding	Pathogenic/Likely_pathogenic
17	50168512	T	C	T50168512C	SGCA	NM_000023.4(SGCA):c.524T>C:p.Val175Ala	coding	Pathogenic
17	50168516	C	T	C50168516T	SGCA	NM_000023.4(SGCA):c.528C>T:p.Thr176=	coding	Benign
17	50168562	C	T	C50168562T	SGCA	NM_000023.4(SGCA):c.574C>T:p.Arg192Ter	coding	Pathogenic
17	50168801	G	A	G50168801A	SGCA	NM_000023.4(SGCA):c.584+229G>A	noncoding	Benign
17	50168870	C	T	C50168870T	SGCA	NM_000023.4(SGCA):c.585-222C>T	noncoding	Benign
17	50169090	A	C	A50169090C	SGCA	NM_000023.4(SGCA):c.585-2A>C	noncoding	Pathogenic
17	50169091	G	A	G50169091A	SGCA	NM_000023.4(SGCA):c.585-1G>A	noncoding	Pathogenic
17	50169091	G	C	G50169091C	SGCA	NM_000023.4(SGCA):c.585-1G>C	noncoding	Pathogenic
17	50169183	C	T	C50169183T	SGCA	NM_000023.4(SGCA):c.676C>T:p.Gln226Ter	coding	Pathogenic
17	50169231	G	T	G50169231T	SGCA	NM_000023.4(SGCA):c.724G>T:p.Val242Phe	coding	Pathogenic
17	50169246	G	A	G50169246A	SGCA	NM_000023.4(SGCA):c.739G>A:p.Val247Met	coding	Pathogenic/Likely_pathogenic
17	50169255	G	A	G50169255A	SGCA	NM_000023.4(SGCA):c.747+1G>A	coding	Pathogenic
17	50169466	C	T	C50169466T	SGCA	NM_000023.4(SGCA):c.747+212C>T	noncoding	Benign
17	50170245	C	T	C50170245T	SGCA	NM_000023.4(SGCA):c.850C>T:p.Arg284Cys	coding	Pathogenic/Likely_pathogenic
17	50170300	T	G	T50170300G	SGCA	NM_000023.4(SGCA):c.905T>G:p.Leu302Arg	coding	Pathogenic
17	50170328	C	T	C50170328T	SGCA	NM_000023.4(SGCA):c.933C>T:p.Val311=	coding	Benign
17	50175393	C	T	C50175393T	SGCA	NM_000023.4(SGCA):c.1120C>T:p.Arg374Cys	coding	Benign/Likely_benign
17	50175443	T	C	T50175443C	SGCA	NM_000023.4(SGCA):c.*6T>C	noncoding	Benign
17	50175447	C	G	C50175447G	SGCA	NM_000023.4(SGCA):c.*10C>G	noncoding	Benign
17	50175791	C	T	C50175791T	SGCA	NM_000023.4(SGCA):c.*92C>T	noncoding	Benign
17	50175865	A	G	A50175865G	SGCA	NM_000023.4(SGCA):c.*166A>G	noncoding	Benign
17	50184237	G	A	G50184237A	COL1A1	NM_000088.3(COL1A1):c.*1265C>T	noncoding	Benign/Likely_benign
17	50184269	C	T	C50184269T	COL1A1	NM_000088.3(COL1A1):c.*1233G>A	noncoding	Benign/Likely_benign
17	50184327	A	C	A50184327C	COL1A1	NM_000088.3(COL1A1):c.*1175T>G	noncoding	Benign
17	50184414	C	T	C50184414T	COL1A1	NM_000088.4(COL1A1):c.*1088G>A	noncoding	Benign/Likely_benign
17	50184758	G	A	G50184758A	COL1A1	NM_000088.3(COL1A1):c.*744C>T	noncoding	Benign
17	50185414	A	G	A50185414G	COL1A1	NM_000088.3(COL1A1):c.*88T>C	noncoding	Benign
17	50185414	A	T	A50185414T	COL1A1	NM_000088.4(COL1A1):c.*88T>A	noncoding	Benign/Likely_benign
17	50185506	A	G	A50185506G	COL1A1	NM_000088.3(COL1A1):c.4391T>C:p.Leu1464Pro	coding	Pathogenic
17	50185576	C	A	C50185576A	COL1A1	NM_000088.4(COL1A1):c.4321G>T:p.Asp1441Tyr	coding	Pathogenic
17	50185576	C	G	C50185576G	COL1A1	NM_000088.4(COL1A1):c.4321G>C:p.Asp1441His	coding	Pathogenic
17	50185605	G	A	G50185605A	COL1A1	NM_000088.3(COL1A1):c.4292C>T:p.Thr1431Ile	coding	Pathogenic
17	50185616	A	G	A50185616G	COL1A1	NM_000088.3(COL1A1):c.4281T>C:p.Ile1427=	coding	Benign
17	50185640	G	A	G50185640A	COL1A1	NM_000088.3(COL1A1):c.4257C>T:p.Thr1419=	coding	Benign
17	50185660	C	T	C50185660T	COL1A1	NM_000088.3(COL1A1):c.4249-12G>A	noncoding	Benign
17	50185776	A	G	A50185776G	COL1A1	NM_000088.4(COL1A1):c.4248+2T>C	noncoding	Pathogenic
17	50185777	C	T	C50185777T	COL1A1	NM_000088.3(COL1A1):c.4248+1G>A	noncoding	Pathogenic
17	50185845	T	C	T50185845C	COL1A1	NM_000088.3(COL1A1):c.4181A>G:p.Asn1394Ser	coding	Benign/Likely_benign
17	50185847	G	A	G50185847A	COL1A1	NM_000088.3(COL1A1):c.4179C>T:p.Ser1393=	coding	Benign/Likely_benign
17	50185855	G	A	G50185855A	COL1A1	NM_000088.3(COL1A1):c.4171C>T:p.Gln1391Ter	coding	Pathogenic
17	50185863	A	G	A50185863G	COL1A1	NM_000088.4(COL1A1):c.4163T>C:p.Leu1388Pro	coding	Pathogenic
17	50185866	G	A	G50185866A	COL1A1	NM_000088.3(COL1A1):c.4160C>T:p.Ala1387Val	coding	Pathogenic
17	50185913	C	T	C50185913T	COL1A1	NM_000088.3(COL1A1):c.4113G>A:p.Lys1371=	coding	Benign
17	50185916	G	T	G50185916T	COL1A1	NM_000088.3(COL1A1):c.4110C>A:p.Cys1370Ter	coding	Pathogenic
17	50185936	G	A	G50185936A	COL1A1	NM_000088.3(COL1A1):c.4090C>T:p.Gln1364Ter	coding	Pathogenic
17	50185945	C	A	C50185945A	COL1A1	NM_000088.3(COL1A1):c.4081G>T:p.Glu1361Ter	coding	Pathogenic
17	50186273	C	T	C50186273T	COL1A1	NM_000088.4(COL1A1):c.4005+44G>A	noncoding	Benign
17	50186319	G	A	G50186319A	COL1A1	NM_000088.3(COL1A1):c.4003C>T:p.Gln1335Ter	coding	Pathogenic
17	50186329	G	A	G50186329A	COL1A1	NM_000088.3(COL1A1):c.3993C>T:p.Thr1331=	coding	Benign/Likely_benign
17	50186344	G	A	G50186344A	COL1A1	NM_000088.3(COL1A1):c.3978C>T:p.Phe1326=	coding	Benign/Likely_benign
17	50186383	G	T	G50186383T	COL1A1	NM_000088.3(COL1A1):c.3939C>A:p.Tyr1313Ter	coding	Pathogenic
17	50186386	C	A	C50186386A	COL1A1	NM_000088.3(COL1A1):c.3936G>T:p.Trp1312Cys	coding	Pathogenic
17	50186386	C	T	C50186386T	COL1A1	NM_000088.3(COL1A1):c.3936G>A:p.Trp1312Ter	coding	Pathogenic
17	50186425	G	A	G50186425A	COL1A1	NM_000088.3(COL1A1):c.3897C>T:p.Cys1299=	coding	Benign/Likely_benign
17	50186425	G	C	G50186425C	COL1A1	NM_000088.3(COL1A1):c.3897C>G:p.Cys1299Trp	coding	Pathogenic
17	50186497	C	T	C50186497T	COL1A1	NM_000088.3(COL1A1):c.3825G>A:p.Trp1275Ter	coding	Pathogenic
17	50186498	C	T	C50186498T	COL1A1	NM_000088.4(COL1A1):c.3824G>A:p.Trp1275Ter	coding	Pathogenic
17	50186505	C	A	C50186505A	COL1A1	NM_000088.4(COL1A1):c.3817G>T:p.Glu1273Ter	coding	Pathogenic
17	50186507	C	A	C50186507A	COL1A1	NM_000088.3(COL1A1):c.3815G>T:p.Gly1272Val	coding	Pathogenic
17	50186542	A	G	A50186542G	COL1A1	NM_000088.3(COL1A1):c.3815-35T>C	noncoding	Benign
17	50186664	T	C	T50186664C	COL1A1	NM_000088.3(COL1A1):c.3790A>G:p.Met1264Val	coding	Pathogenic
17	50186799	C	T	C50186799T	COL1A1	NM_000088.3(COL1A1):c.3655G>A:p.Asp1219Asn	coding	Pathogenic
17	50186802	C	G	C50186802G	COL1A1	NM_000088.3(COL1A1):c.3652G>C:p.Ala1218Pro	coding	Pathogenic
17	50186802	C	T	C50186802T	COL1A1	NM_000088.4(COL1A1):c.3652G>A:p.Ala1218Thr	coding	Pathogenic
17	50186807	T	C	T50186807C	COL1A1	NM_000088.3(COL1A1):c.3647A>G:p.Tyr1216Cys	coding	Pathogenic
17	50186847	G	A	G50186847A	COL1A1	NM_000088.3(COL1A1):c.3607C>T:p.Gln1203Ter	coding	Pathogenic
17	50186895	C	T	C50186895T	COL1A1	NM_000088.3(COL1A1):c.3559G>A:p.Gly1187Ser	coding	Pathogenic
17	50186903	C	A	C50186903A	COL1A1	NM_000088.3(COL1A1):c.3551G>T:p.Gly1184Val	coding	Pathogenic
17	50186904	C	T	C50186904T	COL1A1	NM_000088.4(COL1A1):c.3550G>A:p.Gly1184Arg	coding	Pathogenic
17	50186913	C	T	C50186913T	COL1A1	NM_000088.3(COL1A1):c.3541G>A:p.Gly1181Ser	coding	Pathogenic
17	50187005	G	T	G50187005T	COL1A1	NM_000088.3(COL1A1):c.3531+10C>A	noncoding	Benign
17	50187014	C	T	C50187014T	COL1A1	NM_000088.3(COL1A1):c.3531+1G>A	noncoding	Pathogenic
17	50187041	C	T	C50187041T	COL1A1	NM_000088.3(COL1A1):c.3505G>A:p.Gly1169Ser	coding	Pathogenic
17	50187050	C	A	C50187050A	COL1A1	NM_000088.3(COL1A1):c.3496G>T:p.Gly1166Cys	coding	Pathogenic
17	50187050	C	T	C50187050T	COL1A1	NM_000088.3(COL1A1):c.3496G>A:p.Gly1166Ser	coding	Pathogenic
17	50187059	C	T	C50187059T	COL1A1	NM_000088.3(COL1A1):c.3487G>A:p.Gly1163Arg	coding	Pathogenic
17	50187067	C	T	C50187067T	COL1A1	NM_000088.3(COL1A1):c.3479G>A:p.Gly1160Asp	coding	Pathogenic/Likely_pathogenic
17	50187087	A	G	A50187087G	COL1A1	NM_000088.3(COL1A1):c.3459T>C:p.Asp1153=	coding	Benign
17	50187094	C	A	C50187094A	COL1A1	NM_000088.3(COL1A1):c.3452G>T:p.Gly1151Val	coding	Pathogenic
17	50187095	C	T	C50187095T	COL1A1	NM_000088.4(COL1A1):c.3451G>A:p.Gly1151Ser	coding	Pathogenic
17	50187103	C	T	C50187103T	COL1A1	NM_000088.3(COL1A1):c.3443G>A:p.Gly1148Asp	coding	Pathogenic
17	50187128	G	C	G50187128C	COL1A1	NM_000088.3(COL1A1):c.3424-6C>G	noncoding	Pathogenic
17	50187486	G	A	G50187486A	COL1A1	NM_000088.3(COL1A1):c.3421C>T:p.Arg1141Ter	coding	Pathogenic
17	50187491	C	T	C50187491T	COL1A1	NM_000088.3(COL1A1):c.3416G>A:p.Gly1139Asp	coding	Pathogenic
17	50187492	C	T	C50187492T	COL1A1	NM_000088.3(COL1A1):c.3415G>A:p.Gly1139Ser	coding	Pathogenic
17	50187501	C	T	C50187501T	COL1A1	NM_000088.3(COL1A1):c.3406G>A:p.Gly1136Ser	coding	Pathogenic
17	50187528	C	A	C50187528A	COL1A1	NM_000088.3(COL1A1):c.3379G>T:p.Gly1127Cys	coding	Pathogenic
17	50187538	C	G	C50187538G	COL1A1	NM_000088.4(COL1A1):c.3370-1G>C	coding	Pathogenic
17	50187875	C	T	C50187875T	COL1A1	NM_000088.4(COL1A1):c.3369+1G>A	noncoding	Pathogenic
17	50187944	C	A	C50187944A	COL1A1	NM_000088.3(COL1A1):c.3301G>T:p.Glu1101Ter	coding	Pathogenic
17	50187974	C	T	C50187974T	COL1A1	NM_000088.3(COL1A1):c.3271G>A:p.Gly1091Ser	coding	Pathogenic
17	50188065	A	G	A50188065G	COL1A1	NM_000088.3(COL1A1):c.3261+31T>C	noncoding	Benign
17	50188113	C	A	C50188113A	COL1A1	NM_000088.3(COL1A1):c.3244G>T:p.Gly1082Cys	coding	Pathogenic
17	50188114	A	G	A50188114G	COL1A1	NM_000088.3(COL1A1):c.3243T>C:p.Val1081=	coding	Benign/Likely_benign
17	50188122	C	T	C50188122T	COL1A1	NM_000088.3(COL1A1):c.3235G>A:p.Gly1079Ser	coding	Pathogenic
17	50188131	C	T	C50188131T	COL1A1	NM_000088.3(COL1A1):c.3226G>A:p.Gly1076Ser	coding	Pathogenic
17	50188134	C	T	C50188134T	COL1A1	NM_000088.3(COL1A1):c.3223G>A:p.Ala1075Thr	coding	Benign
17	50188149	C	T	C50188149T	COL1A1	NM_000088.3(COL1A1):c.3208G>A:p.Gly1070Ser	coding	Pathogenic
17	50188276	A	G	A50188276G	COL1A1	NM_000088.3(COL1A1):c.3208-127T>C	noncoding	Benign
17	50188529	C	G	C50188529G	COL1A1	NM_000088.3(COL1A1):c.3207+1G>C	noncoding	Pathogenic
17	50188529	C	T	C50188529T	COL1A1	NM_000088.3(COL1A1):c.3207+1G>A	noncoding	Pathogenic
17	50188555	C	T	C50188555T	COL1A1	NM_000088.3(COL1A1):c.3182G>A:p.Gly1061Asp	coding	Pathogenic
17	50188573	C	T	C50188573T	COL1A1	NM_000088.4(COL1A1):c.3164G>A:p.Gly1055Asp	coding	Pathogenic
17	50188614	G	A	G50188614A	COL1A1	NM_000088.3(COL1A1):c.3123C>T:p.Pro1041=	coding	Benign/Likely_benign
17	50188619	C	T	C50188619T	COL1A1	NM_000088.3(COL1A1):c.3118G>A:p.Gly1040Ser	coding	Pathogenic
17	50188638	C	T	C50188638T	COL1A1	NM_000088.4(COL1A1):c.3100-1G>A	coding	Pathogenic
17	50188741	C	T	C50188741T	COL1A1	NM_000088.3(COL1A1):c.3099+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	50188765	G	A	G50188765A	COL1A1	NM_000088.3(COL1A1):c.3076C>T:p.Arg1026Ter	coding	Pathogenic
17	50188768	C	T	C50188768T	COL1A1	NM_000088.3(COL1A1):c.3073G>A:p.Gly1025Arg	coding	Pathogenic
17	50188776	C	A	C50188776A	COL1A1	NM_000088.3(COL1A1):c.3065G>T:p.Gly1022Val	coding	Pathogenic
17	50188776	C	G	C50188776G	COL1A1	NM_000088.3(COL1A1):c.3065G>C:p.Gly1022Ala	coding	Pathogenic
17	50188777	C	T	C50188777T	COL1A1	NM_000088.3(COL1A1):c.3064G>A:p.Gly1022Ser	coding	Pathogenic
17	50188780	C	A	C50188780A	COL1A1	NM_000088.3(COL1A1):c.3061G>T:p.Glu1021Ter	coding	Pathogenic
17	50188786	C	A	C50188786A	COL1A1	NM_000088.3(COL1A1):c.3055G>T:p.Gly1019Cys	coding	Pathogenic
17	50188795	C	T	C50188795T	COL1A1	NM_000088.3(COL1A1):c.3046G>A:p.Gly1016Arg	coding	Pathogenic
17	50188797	T	A	T50188797A	COL1A1	NM_000088.3(COL1A1):c.3046-2A>T	noncoding	Pathogenic
17	50188902	C	T	C50188902T	COL1A1	NM_000088.3(COL1A1):c.3045+1G>A	noncoding	Pathogenic
17	50188908	G	A	G50188908A	COL1A1	NM_000088.3(COL1A1):c.3040C>T:p.Arg1014Cys	coding	Pathogenic
17	50188920	C	T	C50188920T	COL1A1	NM_000088.3(COL1A1):c.3028G>A:p.Gly1010Ser	coding	Pathogenic
17	50189009	C	A	C50189009A	COL1A1	NM_000088.3(COL1A1):c.2939G>T:p.Gly980Val	coding	Pathogenic
17	50189276	C	T	C50189276T	COL1A1	NM_000088.3(COL1A1):c.2830-1G>A	coding	Pathogenic
17	50189308	G	C	G50189308C	COL1A1	NM_000088.3(COL1A1):c.2830-33C>G	noncoding	Benign
17	50189376	C	G	C50189376G	COL1A1	NM_000088.4(COL1A1):c.2829+1G>C	noncoding	Pathogenic
17	50189376	C	T	C50189376T	COL1A1	NM_000088.4(COL1A1):c.2829+1G>A	noncoding	Pathogenic
17	50189430	C	A	C50189430A	COL1A1	NM_000088.3(COL1A1):c.2776G>T:p.Gly926Cys	coding	Pathogenic
17	50189520	C	A	C50189520A	COL1A1	NM_000088.3(COL1A1):c.2686G>T:p.Gly896Cys	coding	Pathogenic
17	50189539	C	T	C50189539T	COL1A1	NM_000088.3(COL1A1):c.2668-1G>A	coding	Pathogenic
17	50189550	T	C	T50189550C	COL1A1	NM_000088.3(COL1A1):c.2668-12A>G	noncoding	Benign/Likely_benign
17	50189678	C	G	C50189678G	COL1A1	NM_000088.3(COL1A1):c.2667+1G>C	noncoding	Pathogenic
17	50189678	C	T	C50189678T	COL1A1	NM_000088.3(COL1A1):c.2667+1G>A	noncoding	Pathogenic
17	50189702	G	A	G50189702A	COL1A1	NM_000088.3(COL1A1):c.2644C>T:p.Arg882Ter	coding	Pathogenic
17	50189705	C	T	C50189705T	COL1A1	NM_000088.3(COL1A1):c.2641G>A:p.Gly881Ser	coding	Pathogenic
17	50189731	C	A	C50189731A	COL1A1	NM_000088.3(COL1A1):c.2615G>T:p.Gly872Val	coding	Pathogenic
17	50189845	C	T	C50189845T	COL1A1	NM_000088.3(COL1A1):c.2613+14G>A	noncoding	Benign
17	50189846	G	A	G50189846A	COL1A1	NM_000088.3(COL1A1):c.2613+13C>T	noncoding	Benign/Likely_benign
17	50189867	C	A	C50189867A	COL1A1	NM_000088.3(COL1A1):c.2605G>T:p.Gly869Cys	coding	Pathogenic
17	50189876	C	T	C50189876T	COL1A1	NM_000088.3(COL1A1):c.2596G>A:p.Gly866Ser	coding	Pathogenic
17	50189912	C	G	C50189912G	COL1A1	NM_000088.3(COL1A1):c.2560G>C:p.Gly854Arg	coding	Pathogenic
17	50189930	G	C	G50189930C	COL1A1	NM_000088.3(COL1A1):c.2560-18C>G	noncoding	Benign
17	50190008	C	T	C50190008T	COL1A1	NM_000088.3(COL1A1):c.2552G>A:p.Gly851Asp	coding	Pathogenic
17	50190026	C	G	C50190026G	COL1A1	NM_000088.3(COL1A1):c.2534G>C:p.Gly845Ala	coding	Pathogenic
17	50190027	C	T	C50190027T	COL1A1	NM_000088.3(COL1A1):c.2533G>A:p.Gly845Arg	coding	Pathogenic
17	50190045	C	T	C50190045T	COL1A1	NM_000088.3(COL1A1):c.2515G>A:p.Gly839Ser	coding	Pathogenic
17	50190099	C	T	C50190099T	COL1A1	NM_000088.3(COL1A1):c.2461G>A:p.Gly821Ser	coding	Pathogenic
17	50190109	C	G	C50190109G	COL1A1	NM_000088.3(COL1A1):c.2452-1G>C	coding	Pathogenic
17	50190109	C	T	C50190109T	COL1A1	NM_000088.4(COL1A1):c.2452-1G>A	coding	Pathogenic
17	50190334	C	A	C50190334A	COL1A1	NM_000088.3(COL1A1):c.2444G>T:p.Gly815Val	coding	Pathogenic
17	50190370	C	A	C50190370A	COL1A1	NM_000088.3(COL1A1):c.2408G>T:p.Gly803Val	coding	Pathogenic
17	50190381	C	T	C50190381T	COL1A1	NM_000088.4(COL1A1):c.2398-1G>A	coding	Pathogenic
17	50190578	C	T	C50190578T	COL1A1	NM_000088.3(COL1A1):c.2362G>A:p.Gly788Ser	coding	Pathogenic
17	50190597	C	T	C50190597T	COL1A1	NM_000088.3(COL1A1):c.2344-1G>A	coding	Pathogenic
17	50190816	C	T	C50190816T	COL1A1	NM_000088.3(COL1A1):c.2343+1G>A	noncoding	Pathogenic
17	50190825	C	T	C50190825T	COL1A1	NM_000088.3(COL1A1):c.2335G>A:p.Gly779Ser	coding	Pathogenic
17	50190861	C	T	C50190861T	COL1A1	NM_000088.3(COL1A1):c.2299G>A:p.Gly767Ser	coding	Pathogenic
17	50190862	A	G	A50190862G	COL1A1	NM_000088.3(COL1A1):c.2298T>C:p.Thr766=	coding	Benign
17	50190869	C	A	C50190869A	COL1A1	NM_000088.3(COL1A1):c.2291G>T:p.Gly764Val	coding	Pathogenic
17	50190925	C	G	C50190925G	COL1A1	NM_000088.4(COL1A1):c.2236-1G>C	coding	Pathogenic
17	50191265	A	G	A50191265G	COL1A1	NM_000088.3(COL1A1):c.2235+118T>C	noncoding	Benign
17	50191382	C	T	C50191382T	COL1A1	NM_000088.3(COL1A1):c.2235+1G>A	noncoding	Pathogenic
17	50191390	C	A	C50191390A	COL1A1	NM_000088.3(COL1A1):c.2228G>T:p.Gly743Val	coding	Pathogenic
17	50191408	C	T	C50191408T	COL1A1	NM_000088.3(COL1A1):c.2210G>A:p.Gly737Asp	coding	Pathogenic
17	50191436	C	A	C50191436A	COL1A1	NM_000088.4(COL1A1):c.2182G>T:p.Gly728Ter	coding	Pathogenic
17	50191443	G	A	G50191443A	COL1A1	NM_000088.3(COL1A1):c.2175C>T:p.Gly725=	coding	Benign
17	50191454	C	T	C50191454T	COL1A1	NM_000088.3(COL1A1):c.2164G>A:p.Gly722Ser	coding	Pathogenic
17	50191457	G	A	G50191457A	COL1A1	NM_000088.3(COL1A1):c.2161C>T:p.Gln721Ter	coding	Pathogenic/Likely_pathogenic
17	50191462	C	T	C50191462T	COL1A1	NM_000088.3(COL1A1):c.2156G>A:p.Gly719Asp	coding	Pathogenic
17	50191463	C	A	C50191463A	COL1A1	NM_000088.4(COL1A1):c.2155G>T:p.Gly719Cys	coding	Pathogenic
17	50191463	C	T	C50191463T	COL1A1	NM_000088.3(COL1A1):c.2155G>A:p.Gly719Ser	coding	Pathogenic
17	50191480	C	T	C50191480T	COL1A1	NM_000088.3(COL1A1):c.2138G>A:p.Gly713Asp	coding	Pathogenic
17	50191491	C	A	C50191491A	COL1A1	NM_000088.4(COL1A1):c.2128-1G>T	coding	Pathogenic
17	50191491	C	G	C50191491G	COL1A1	NM_000088.3(COL1A1):c.2128-1G>C	coding	Pathogenic
17	50191491	C	T	C50191491T	COL1A1	NM_000088.4(COL1A1):c.2128-1G>A	coding	Pathogenic
17	50191728	A	G	A50191728G	COL1A1	NM_000088.4(COL1A1):c.2127+60T>C	noncoding	Benign
17	50191786	A	T	A50191786T	COL1A1	NM_000088.3(COL1A1):c.2127+2T>A	noncoding	Pathogenic
17	50191787	C	T	C50191787T	COL1A1	NM_000088.3(COL1A1):c.2127+1G>A	noncoding	Pathogenic
17	50191796	C	T	C50191796T	COL1A1	NM_000088.3(COL1A1):c.2119G>A:p.Gly707Ser	coding	Pathogenic
17	50191800	G	A	G50191800A	COL1A1	NM_000088.3(COL1A1):c.2115C>T:p.Asn705=	coding	Benign/Likely_benign
17	50191805	C	A	C50191805A	COL1A1	NM_000088.3(COL1A1):c.2110G>T:p.Gly704Cys	coding	Pathogenic
17	50191805	C	T	C50191805T	COL1A1	NM_000088.4(COL1A1):c.2110G>A:p.Gly704Ser	coding	Pathogenic
17	50191826	G	A	G50191826A	COL1A1	NM_000088.3(COL1A1):c.2089C>T:p.Arg697Ter	coding	Pathogenic
17	50191840	C	G	C50191840G	COL1A1	NM_000088.3(COL1A1):c.2075G>C:p.Gly692Ala	coding	Pathogenic
17	50191941	G	A	G50191941A	COL1A1	NM_000088.3(COL1A1):c.2028+39C>T	noncoding	Benign
17	50191978	A	C	A50191978C	COL1A1	NM_000088.3(COL1A1):c.2028+2T>G	noncoding	Pathogenic
17	50192065	C	T	C50192065T	COL1A1	NM_000088.3(COL1A1):c.1984-41G>A	noncoding	Benign
17	50192067	C	G	C50192067G	COL1A1	NM_000088.3(COL1A1):c.1984-43G>C	noncoding	Benign
17	50192466	C	A	C50192466A	COL1A1	NM_000088.3(COL1A1):c.1983+9G>T	noncoding	Benign/Likely_benign
17	50192466	C	G	C50192466G	COL1A1	NM_000088.3(COL1A1):c.1983+9G>C	noncoding	Benign/Likely_benign
17	50192528	C	T	C50192528T	COL1A1	NM_000088.3(COL1A1):c.1930G>A:p.Gly644Ser	coding	Pathogenic
17	50192529	C	T	C50192529T	COL1A1	NM_000088.3(COL1A1):c.1930-1G>A	coding	Pathogenic
17	50192542	A	G	A50192542G	COL1A1	NM_000088.3(COL1A1):c.1930-14T>C	noncoding	Benign
17	50192639	C	T	C50192639T	COL1A1	NM_000088.4(COL1A1):c.1929+1G>A	noncoding	Pathogenic
17	50192647	C	A	C50192647A	COL1A1	NM_000088.4(COL1A1):c.1922G>T:p.Gly641Val	coding	Pathogenic
17	50192703	G	A	G50192703A	COL1A1	NM_000088.4(COL1A1):c.1876-10C>T	noncoding	Benign
17	50192756	C	G	C50192756G	COL1A1	NM_000088.3(COL1A1):c.1875+41G>C	noncoding	Benign
17	50192792	C	G	C50192792G	COL1A1	NM_000088.3(COL1A1):c.1875+5G>C	noncoding	Pathogenic
17	50192796	C	G	C50192796G	COL1A1	NM_000088.3(COL1A1):c.1875+1G>C	noncoding	Pathogenic
17	50192799	C	T	C50192799T	COL1A1	NM_000088.3(COL1A1):c.1873G>A:p.Ala625Thr	coding	Benign/Likely_benign
17	50192829	C	A	C50192829A	COL1A1	NM_000088.3(COL1A1):c.1843G>T:p.Glu615Ter	coding	Pathogenic
17	50192832	C	A	C50192832A	COL1A1	NM_000088.4(COL1A1):c.1840G>T:p.Gly614Ter	coding	Pathogenic
17	50192993	C	A	C50192993A	COL1A1	NM_000088.4(COL1A1):c.1821+1G>T	noncoding	Pathogenic
17	50192993	C	G	C50192993G	COL1A1	NM_000088.3(COL1A1):c.1821+1G>C	noncoding	Pathogenic
17	50192993	C	T	C50192993T	COL1A1	NM_000088.3(COL1A1):c.1821+1G>A	noncoding	Pathogenic
17	50192994	G	A	G50192994A	COL1A1	NM_000088.3(COL1A1):c.1821C>T:p.Val607=	coding	Benign/Likely_benign
17	50193012	G	A	G50193012A	COL1A1	NM_000088.3(COL1A1):c.1803C>T:p.Pro601=	coding	Benign/Likely_benign
17	50193023	G	A	G50193023A	COL1A1	NM_000088.3(COL1A1):c.1792C>T:p.Arg598Ter	coding	Pathogenic
17	50193038	C	A	C50193038A	COL1A1	NM_000088.3(COL1A1):c.1777G>T:p.Gly593Cys	coding	Pathogenic
17	50193038	C	T	C50193038T	COL1A1	NM_000088.3(COL1A1):c.1777G>A:p.Gly593Ser	coding	Pathogenic
17	50193048	C	T	C50193048T	COL1A1	NM_000088.4(COL1A1):c.1768-1G>A	coding	Pathogenic
17	50193941	A	C	A50193941C	COL1A1	NM_000088.3(COL1A1):c.1767+2T>G	noncoding	Pathogenic
17	50194005	C	G	C50194005G	COL1A1	NM_000088.3(COL1A1):c.1705G>C:p.Gly569Arg	coding	Pathogenic
17	50194014	C	T	C50194014T	COL1A1	NM_000088.3(COL1A1):c.1696G>A:p.Gly566Arg	coding	Pathogenic
17	50194032	C	A	C50194032A	COL1A1	NM_000088.3(COL1A1):c.1678G>T:p.Gly560Cys	coding	Pathogenic
17	50194032	C	T	C50194032T	COL1A1	NM_000088.3(COL1A1):c.1678G>A:p.Gly560Ser	coding	Pathogenic
17	50194072	A	G	A50194072G	COL1A1	NM_000088.3(COL1A1):c.1669-31T>C	noncoding	Benign
17	50194144	T	A	T50194144A	COL1A1	NM_000088.3(COL1A1):c.1654A>T:p.Lys552Ter	coding	Pathogenic
17	50194183	C	T	C50194183T	COL1A1	NM_000088.3(COL1A1):c.1615G>A:p.Gly539Ser	coding	Pathogenic
17	50194187	G	T	G50194187T	COL1A1	NM_000088.3(COL1A1):c.1615-4C>A	noncoding	Benign/Likely_benign
17	50194347	A	T	A50194347T	COL1A1	NM_000088.3(COL1A1):c.1614+2T>A	noncoding	Pathogenic
17	50194348	C	G	C50194348G	COL1A1	NM_000088.3(COL1A1):c.1614+1G>C	noncoding	Pathogenic
17	50194365	C	T	C50194365T	COL1A1	NM_000088.3(COL1A1):c.1598G>A:p.Gly533Asp	coding	Pathogenic
17	50194375	C	T	C50194375T	COL1A1	NM_000088.3(COL1A1):c.1588G>A:p.Gly530Ser	coding	Pathogenic
17	50194376	G	A	G50194376A	COL1A1	NM_000088.3(COL1A1):c.1587C>T:p.Pro529=	coding	Benign/Likely_benign
17	50194448	C	G	C50194448G	COL1A1	NM_000088.3(COL1A1):c.1516-1G>C	coding	Pathogenic
17	50194623	C	A	C50194623A	COL1A1	NM_000088.3(COL1A1):c.1465G>T:p.Gly489Ter	coding	Pathogenic
17	50194694	C	T	C50194694T	COL1A1	NM_000088.3(COL1A1):c.1461+27G>A	noncoding	Benign
17	50194728	C	G	C50194728G	COL1A1	NM_000088.4(COL1A1):c.1454G>C:p.Gly485Ala	coding	Pathogenic
17	50194768	G	A	G50194768A	COL1A1	NM_000088.3(COL1A1):c.1414C>T:p.Arg472Ter	coding	Pathogenic
17	50194777	G	A	G50194777A	COL1A1	NM_000088.3(COL1A1):c.1405C>T:p.Arg469Ter	coding	Pathogenic
17	50194789	C	A	C50194789A	COL1A1	NM_000088.3(COL1A1):c.1393G>T:p.Glu465Ter	coding	Pathogenic
17	50194813	G	A	G50194813A	COL1A1	NM_000088.3(COL1A1):c.1369C>T:p.Gln457Ter	coding	Pathogenic
17	50194840	C	T	C50194840T	COL1A1	NM_000088.3(COL1A1):c.1354-12G>A	noncoding	Pathogenic
17	50195099	C	A	C50195099A	COL1A1	NM_000088.3(COL1A1):c.1301G>T:p.Gly434Val	coding	Pathogenic
17	50195100	C	T	C50195100T	COL1A1	NM_000088.3(COL1A1):c.1300G>A:p.Gly434Ser	coding	Pathogenic
17	50195108	G	A	G50195108A	COL1A1	NM_000088.3(COL1A1):c.1300-8C>T	noncoding	Benign
17	50195108	G	C	G50195108C	COL1A1	NM_000088.3(COL1A1):c.1300-8C>G	noncoding	Benign
17	50195227	C	T	C50195227T	COL1A1	NM_000088.3(COL1A1):c.1299+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	50195231	C	G	C50195231G	COL1A1	NM_000088.3(COL1A1):c.1299+1G>C	noncoding	Pathogenic
17	50195231	C	T	C50195231T	COL1A1	NM_000088.3(COL1A1):c.1299+1G>A	noncoding	Pathogenic
17	50195258	C	T	C50195258T	COL1A1	NM_000088.3(COL1A1):c.1273G>A:p.Gly425Ser	coding	Pathogenic
17	50195270	G	A	G50195270A	COL1A1	NM_000088.3(COL1A1):c.1261C>T:p.Gln421Ter	coding	Pathogenic
17	50195284	C	T	C50195284T	COL1A1	NM_000088.3(COL1A1):c.1247G>A:p.Gly416Asp	coding	Pathogenic
17	50195288	G	A	G50195288A	COL1A1	NM_000088.3(COL1A1):c.1243C>T:p.Arg415Ter	coding	Pathogenic
17	50195330	C	T	C50195330T	COL1A1	NM_000088.3(COL1A1):c.1201G>A:p.Gly401Ser	coding	Pathogenic
17	50195331	C	T	C50195331T	COL1A1	NM_000088.4(COL1A1):c.1201-1G>A	coding	Pathogenic
17	50195433	C	T	C50195433T	COL1A1	NM_000088.3(COL1A1):c.1200+1G>A	noncoding	Pathogenic
17	50195442	C	A	C50195442A	COL1A1	NM_000088.3(COL1A1):c.1192G>T:p.Gly398Cys	coding	Pathogenic
17	50195466	C	T	C50195466T	COL1A1	NM_000088.3(COL1A1):c.1168G>A:p.Ala390Thr	coding	Benign
17	50195584	C	T	C50195584T	COL1A1	NM_000088.3(COL1A1):c.1138G>A:p.Gly380Ser	coding	Pathogenic
17	50195590	G	C	G50195590C	COL1A1	NM_000088.3(COL1A1):c.1132C>G:p.Pro378Ala	coding	Benign
17	50195601	C	G	C50195601G	COL1A1	NM_000088.3(COL1A1):c.1121G>C:p.Gly374Ala	coding	Pathogenic
17	50195611	C	T	C50195611T	COL1A1	NM_000088.3(COL1A1):c.1111G>A:p.Gly371Ser	coding	Pathogenic
17	50195623	G	A	G50195623A	COL1A1	NM_000088.3(COL1A1):c.1099C>T:p.Gln367Ter	coding	Pathogenic
17	50195641	G	A	G50195641A	COL1A1	NM_000088.3(COL1A1):c.1081C>T:p.Arg361Ter	coding	Pathogenic
17	50195646	C	T	C50195646T	COL1A1	NM_000088.3(COL1A1):c.1076G>A:p.Gly359Glu	coding	Pathogenic
17	50195656	C	A	C50195656A	COL1A1	NM_000088.3(COL1A1):c.1066G>T:p.Gly356Cys	coding	Pathogenic
17	50195665	C	A	C50195665A	COL1A1	NM_000088.3(COL1A1):c.1057G>T:p.Gly353Cys	coding	Pathogenic
17	50195665	C	T	C50195665T	COL1A1	NM_000088.3(COL1A1):c.1057G>A:p.Gly353Ser	coding	Pathogenic
17	50195666	C	T	C50195666T	COL1A1	NM_000088.3(COL1A1):c.1057-1G>A	coding	Pathogenic
17	50195967	C	T	C50195967T	COL1A1	NM_000088.3(COL1A1):c.1012G>A:p.Gly338Ser	coding	Pathogenic
17	50196078	T	C	T50196078C	COL1A1	NM_000088.3(COL1A1):c.1002+77A>G	noncoding	Benign
17	50196103	T	C	T50196103C	COL1A1	NM_000088.3(COL1A1):c.1002+52A>G	noncoding	Benign
17	50196153	A	G	A50196153G	COL1A1	NM_000088.3(COL1A1):c.1002+2T>C	noncoding	Pathogenic
17	50196158	G	A	G50196158A	COL1A1	NM_000088.3(COL1A1):c.999C>T:p.Pro333=	coding	Benign/Likely_benign
17	50196163	C	T	C50196163T	COL1A1	NM_000088.3(COL1A1):c.994G>A:p.Gly332Arg	coding	Pathogenic
17	50196172	C	G	C50196172G	COL1A1	NM_000088.3(COL1A1):c.985G>C:p.Gly329Arg	coding	Pathogenic/Likely_pathogenic
17	50196180	C	T	C50196180T	COL1A1	NM_000088.3(COL1A1):c.977G>A:p.Gly326Asp	coding	Pathogenic
17	50196200	C	G	C50196200G	COL1A1	NM_000088.4(COL1A1):c.958-1G>C	coding	Pathogenic
17	50196304	G	T	G50196304T	COL1A1	NM_000088.4(COL1A1):c.957+10C>A	noncoding	Benign/Likely_benign
17	50196309	C	T	C50196309T	COL1A1	NM_000088.3(COL1A1):c.957+5G>A	noncoding	Pathogenic
17	50196337	G	A	G50196337A	COL1A1	NM_000088.3(COL1A1):c.934C>T:p.Arg312Cys	coding	Pathogenic/Likely_pathogenic
17	50196376	C	A	C50196376A	COL1A1	NM_000088.3(COL1A1):c.904-9G>T	noncoding	Benign/Likely_benign
17	50196482	A	T	A50196482T	COL1A1	NM_000088.3(COL1A1):c.903+2T>A	noncoding	Pathogenic
17	50196483	C	T	C50196483T	COL1A1	NM_000088.3(COL1A1):c.903+1G>A	noncoding	Pathogenic
17	50196509	C	T	C50196509T	COL1A1	NM_000088.3(COL1A1):c.878G>A:p.Gly293Asp	coding	Pathogenic
17	50196519	C	G	C50196519G	COL1A1	NM_000088.3(COL1A1):c.868G>C:p.Gly290Arg	coding	Pathogenic
17	50196525	C	A	C50196525A	COL1A1	NM_000088.3(COL1A1):c.862G>T:p.Glu288Ter	coding	Pathogenic
17	50196530	T	C	T50196530C	COL1A1	NM_000088.4(COL1A1):c.859-2A>G	noncoding	Pathogenic
17	50196542	A	C	A50196542C	COL1A1	NM_000088.3(COL1A1):c.859-14T>G	noncoding	Benign
17	50196624	C	G	C50196624G	COL1A1	NM_000088.3(COL1A1):c.851G>C:p.Gly284Ala	coding	Pathogenic
17	50196634	C	T	C50196634T	COL1A1	NM_000088.3(COL1A1):c.841G>A:p.Gly281Ser	coding	Pathogenic
17	50196651	C	T	C50196651T	COL1A1	NM_000088.3(COL1A1):c.824G>A:p.Gly275Asp	coding	Pathogenic
17	50196652	C	A	C50196652A	COL1A1	NM_000088.3(COL1A1):c.823G>T:p.Gly275Cys	coding	Pathogenic
17	50196661	C	A	C50196661A	COL1A1	NM_000088.3(COL1A1):c.814G>T:p.Gly272Cys	coding	Pathogenic
17	50196671	C	T	C50196671T	COL1A1	NM_000088.4(COL1A1):c.805-1G>A	coding	Pathogenic
17	50196930	T	G	T50196930G	COL1A1	NM_000088.3(COL1A1):c.804+80A>C	noncoding	Benign
17	50196948	T	C	T50196948C	COL1A1	NM_000088.3(COL1A1):c.804+62A>G	noncoding	Benign
17	50197009	C	G	C50197009G	COL1A1	NM_000088.3(COL1A1):c.804+1G>C	noncoding	Pathogenic
17	50197012	T	A	T50197012A	COL1A1	NM_000088.3(COL1A1):c.802A>T:p.Arg268Ter	coding	Pathogenic
17	50197018	C	G	C50197018G	COL1A1	NM_000088.3(COL1A1):c.796G>C:p.Gly266Arg	coding	Pathogenic
17	50197027	C	T	C50197027T	COL1A1	NM_000088.3(COL1A1):c.787G>A:p.Gly263Arg	coding	Pathogenic
17	50197035	C	A	C50197035A	COL1A1	NM_000088.3(COL1A1):c.779G>T:p.Gly260Val	coding	Pathogenic
17	50197045	C	T	C50197045T	COL1A1	NM_000088.3(COL1A1):c.769G>A:p.Gly257Arg	coding	Pathogenic
17	50197053	C	T	C50197053T	COL1A1	NM_000088.3(COL1A1):c.761G>A:p.Gly254Glu	coding	Pathogenic
17	50197057	G	A	G50197057A	COL1A1	NM_000088.3(COL1A1):c.757C>T:p.Arg253Ter	coding	Pathogenic
17	50197062	C	T	C50197062T	COL1A1	NM_000088.3(COL1A1):c.752G>A:p.Gly251Asp	coding	Pathogenic
17	50197063	C	A	C50197063A	COL1A1	NM_000088.3(COL1A1):c.751G>T:p.Gly251Cys	coding	Pathogenic
17	50197064	C	T	C50197064T	COL1A1	NM_000088.3(COL1A1):c.751-1G>A	coding	Pathogenic
17	50197168	C	A	C50197168A	COL1A1	NM_000088.3(COL1A1):c.750+12G>T	noncoding	Benign/Likely_benign
17	50197178	A	G	A50197178G	COL1A1	NM_000088.4(COL1A1):c.750+2T>C	noncoding	Pathogenic
17	50197203	C	A	C50197203A	COL1A1	NM_000088.4(COL1A1):c.727G>T:p.Glu243Ter	coding	Pathogenic
17	50197205	C	A	C50197205A	COL1A1	NM_000088.4(COL1A1):c.725G>T:p.Gly242Val	coding	Pathogenic
17	50197234	C	G	C50197234G	COL1A1	NM_000088.3(COL1A1):c.697-1G>C	coding	Pathogenic
17	50197234	C	T	C50197234T	COL1A1	NM_000088.3(COL1A1):c.697-1G>A	coding	Pathogenic
17	50197263	T	C	T50197263C	COL1A1	NM_000088.3(COL1A1):c.697-30A>G	noncoding	Benign
17	50197678	C	T	C50197678T	COL1A1	NM_000088.4(COL1A1):c.696+54G>A	noncoding	Benign
17	50197757	C	A	C50197757A	COL1A1	NM_000088.3(COL1A1):c.671G>T:p.Gly224Val	coding	Pathogenic/Likely_pathogenic
17	50197767	C	A	C50197767A	COL1A1	NM_000088.3(COL1A1):c.661G>T:p.Gly221Cys	coding	Pathogenic
17	50197767	C	T	C50197767T	COL1A1	NM_000088.3(COL1A1):c.661G>A:p.Gly221Ser	coding	Pathogenic
17	50197770	G	A	G50197770A	COL1A1	NM_000088.3(COL1A1):c.658C>T:p.Arg220Ter	coding	Pathogenic
17	50197787	T	C	T50197787C	COL1A1	NM_000088.3(COL1A1):c.643-2A>G	noncoding	Pathogenic
17	50197866	G	A	G50197866A	COL1A1	NM_000088.3(COL1A1):c.643-81C>T	noncoding	Benign
17	50197924	A	G	A50197924G	COL1A1	NM_000088.3(COL1A1):c.642+25T>C	noncoding	Benign
17	50197931	T	G	T50197931G	COL1A1	NM_000088.3(COL1A1):c.642+18A>C	noncoding	Benign
17	50197948	C	T	C50197948T	COL1A1	NM_000088.3(COL1A1):c.642+1G>A	noncoding	Pathogenic
17	50197979	G	A	G50197979A	COL1A1	NM_000088.3(COL1A1):c.612C>T:p.Pro204=	coding	Benign/Likely_benign
17	50197983	C	A	C50197983A	COL1A1	NM_000088.3(COL1A1):c.608G>T:p.Gly203Val	coding	Pathogenic
17	50197984	C	T	C50197984T	COL1A1	NM_000088.4(COL1A1):c.607G>A:p.Gly203Ser	coding	Pathogenic
17	50197992	C	A	C50197992A	COL1A1	NM_000088.3(COL1A1):c.599G>T:p.Gly200Val	coding	Pathogenic
17	50198002	C	A	C50198002A	COL1A1	NM_000088.3(COL1A1):c.589G>T:p.Gly197Cys	coding	Pathogenic
17	50198089	T	C	T50198089C	COL1A1	NM_000088.3(COL1A1):c.588+72A>G	noncoding	Benign
17	50198128	A	G	A50198128G	COL1A1	NM_000088.3(COL1A1):c.588+33T>C	noncoding	Benign
17	50198145	C	T	C50198145T	COL1A1	NM_000088.3(COL1A1):c.588+16G>A	noncoding	Benign
17	50198177	C	T	C50198177T	COL1A1	NM_000088.3(COL1A1):c.572G>A:p.Gly191Asp	coding	Pathogenic
17	50198178	C	T	C50198178T	COL1A1	NM_000088.3(COL1A1):c.571G>A:p.Gly191Ser	coding	Pathogenic
17	50198186	C	T	C50198186T	COL1A1	NM_000088.3(COL1A1):c.563G>A:p.Gly188Asp	coding	Pathogenic
17	50198428	C	T	C50198428T	COL1A1	NM_000088.4(COL1A1):c.543+5G>A	noncoding	Pathogenic
17	50198433	C	T	C50198433T	COL1A1	NM_000088.3(COL1A1):c.543G>A:p.Met181Ile	coding	Pathogenic
17	50198475	A	T	A50198475T	COL1A1	NM_000088.3(COL1A1):c.501T>A:p.Tyr167Ter	coding	Pathogenic
17	50198505	C	A	C50198505A	COL1A1	NM_000088.3(COL1A1):c.472-1G>T	coding	Pathogenic
17	50198505	C	G	C50198505G	COL1A1	NM_000088.3(COL1A1):c.472-1G>C	coding	Pathogenic
17	50198505	C	T	C50198505T	COL1A1	NM_000088.3(COL1A1):c.472-1G>A	coding	Pathogenic
17	50198506	T	A	T50198506A	COL1A1	NM_000088.3(COL1A1):c.472-2A>T	noncoding	Pathogenic
17	50198801	C	T	C50198801T	COL1A1	NM_000088.3(COL1A1):c.472-297G>A	noncoding	Benign
17	50198891	A	G	A50198891G	COL1A1	NM_000088.3(COL1A1):c.471+335T>C	noncoding	Benign
17	50199194	G	A	G50199194A	COL1A1	NM_000088.3(COL1A1):c.471+32C>T	noncoding	Benign
17	50199304	T	A	T50199304A	COL1A1	NM_000088.4(COL1A1):c.393A>T:p.Arg131=	coding	Benign
17	50199306	G	A	G50199306A	COL1A1	NM_000088.4(COL1A1):c.391C>T:p.Arg131Ter	coding	Pathogenic
17	50199429	G	A	G50199429A	COL1A1	NM_000088.4(COL1A1):c.358C>T:p.Arg120Ter	coding	Pathogenic
17	50199454	C	T	C50199454T	COL1A1	NM_000088.3(COL1A1):c.334-1G>A	coding	Pathogenic
17	50199462	T	C	T50199462C	COL1A1	NM_000088.3(COL1A1):c.334-9A>G	noncoding	Pathogenic
17	50199554	A	G	A50199554G	COL1A1	NM_000088.3(COL1A1):c.333+2T>C	noncoding	Pathogenic
17	50199591	C	T	C50199591T	COL1A1	NM_000088.4(COL1A1):c.299-1G>A	coding	Pathogenic
17	50199610	G	C	G50199610C	COL1A1	NM_000088.3(COL1A1):c.299-20C>G	noncoding	Benign
17	50199746	G	T	G50199746T	COL1A1	NM_000088.3(COL1A1):c.298+7C>A	noncoding	Benign
17	50199775	A	T	A50199775T	COL1A1	NM_000088.4(COL1A1):c.276T>A:p.Cys92Ter	coding	Pathogenic
17	50199789	C	A	C50199789A	COL1A1	NM_000088.3(COL1A1):c.262G>T:p.Glu88Ter	coding	Pathogenic
17	50199822	C	A	C50199822A	COL1A1	NM_000088.3(COL1A1):c.229G>T:p.Glu77Ter	coding	Pathogenic
17	50199874	C	A	C50199874A	COL1A1	NM_000088.3(COL1A1):c.177G>T:p.Arg59=	coding	Benign
17	50199903	G	A	G50199903A	COL1A1	NM_000088.3(COL1A1):c.148C>T:p.Arg50Ter	coding	Pathogenic
17	50199931	G	T	G50199931T	COL1A1	NM_000088.3(COL1A1):c.120C>A:p.Cys40Ter	coding	Pathogenic
17	50199948	C	A	C50199948A	COL1A1	NM_000088.3(COL1A1):c.104-1G>T	coding	Pathogenic
17	50200388	C	A	C50200388A	COL1A1	NM_000088.4(COL1A1):c.104-441G>T	noncoding	Benign
17	50201146	C	T	C50201146T	COL1A1	NM_000088.3(COL1A1):c.103+265G>A	noncoding	Benign
17	50201409	A	G	A50201409G	COL1A1	NM_000088.4(COL1A1):c.103+2T>C	noncoding	Pathogenic
17	50201423	G	A	G50201423A	COL1A1	NM_000088.3(COL1A1):c.91C>T:p.Gln31Ter	coding	Pathogenic
17	50201511	C	T	C50201511T	COL1A1	NM_000088.3(COL1A1):c.3G>A:p.Met1Ile	coding	Pathogenic
17	50201512	A	G	A50201512G	COL1A1	NM_000088.3(COL1A1):c.2T>C:p.Met1Thr	coding	Pathogenic
17	50201513	T	C	T50201513C	COL1A1	NM_000088.3(COL1A1):c.1A>G:p.Met1Val	coding	Pathogenic
17	50201554	G	A	G50201554A	COL1A1	NM_000088.3(COL1A1):c.-41C>T	noncoding	Benign
17	50201611	C	T	C50201611T	COL1A1	NM_000088.4(COL1A1):c.-98G>A	noncoding	Benign/Likely_benign
17	50201674	G	A	G50201674A	COL1A1	NM_000088.3(COL1A1):c.-161C>T	noncoding	Benign
17	50346285	C	A	C50346285A	XYLT2	NM_022167.4(XYLT2):c.135+10C>A	noncoding	Benign
17	50353853	G	A	G50353853A	XYLT2	NM_022167.4(XYLT2):c.359G>A:p.Arg120His	coding	Benign
17	50354550	C	T	C50354550T	XYLT2	NM_022167.4(XYLT2):c.771C>T:p.His257=	coding	Benign
17	50354847	C	G	C50354847G	XYLT2	NM_022167.4(XYLT2):c.805-7C>G	noncoding	Benign
17	50354971	C	T	C50354971T	XYLT2	NM_022167.4(XYLT2):c.922C>T:p.Leu308=	coding	Benign
17	50355851	C	T	C50355851T	XYLT2	NM_022167.4(XYLT2):c.1159C>T:p.Arg387Trp	coding	Pathogenic
17	50356647	C	T	C50356647T	XYLT2	NM_022167.4(XYLT2):c.1619C>T:p.Thr540Ile	coding	Benign
17	50357144	G	A	G50357144A	XYLT2	NM_022167.4(XYLT2):c.1833G>A:p.Gln611=	coding	Benign
17	50357156	G	C	G50357156C	XYLT2	NM_022167.4(XYLT2):c.1845G>C:p.Gln615His	coding	Benign
17	50358288	G	A	G50358288A	XYLT2	NM_022167.4(XYLT2):c.2023G>A:p.Val675Met	coding	Benign
17	50358326	A	G	A50358326G	XYLT2	NM_022167.4(XYLT2):c.2061A>G:p.Thr687=	coding	Benign
17	50360095	C	G	C50360095G	XYLT2	NM_022167.4(XYLT2):c.2402C>G:p.Thr801Arg	coding	Benign
17	50360156	C	T	C50360156T	XYLT2	NM_022167.4(XYLT2):c.2463C>T:p.Ser821=	coding	Benign
17	50375223	G	T	G50375223T	EME1	NM_001166131.1(EME1):c.15G>T:p.Lys5Asn	coding	Benign
17	50465329	G	A	G50465329A	CHAD	NM_001267.3(CHAD):c.1049C>T:p.Thr350Ile	coding	Benign
17	50465331	G	A	G50465331A	CHAD	NM_001267.3(CHAD):c.1047C>T:p.Pro349=	coding	Benign
17	50468138	G	A	G50468138A	CHAD	NM_001267.3(CHAD):c.676C>T:p.Leu226=	coding	Benign
17	50468243	G	C	G50468243C	CHAD	NM_001267.3(CHAD):c.571C>G:p.Leu191Val	coding	Benign
17	50468741	G	T	G50468741T	CHAD	NM_001267.3(CHAD):c.73C>A:p.Gln25Lys	coding	Benign
17	50568957	C	T	C50568957T	CACNA1G	NM_018896.5(CACNA1G):c.330C>T:p.Asp110=	coding	Benign
17	50571966	C	T	C50571966T	CACNA1G	NM_018896.5(CACNA1G):c.675C>T:p.Phe225=	coding	Benign
17	50572674	C	T	C50572674T	CACNA1G	NM_018896.5(CACNA1G):c.867C>T:p.Arg289=	coding	Benign
17	50572782	G	A	G50572782A	CACNA1G	NM_018896.5(CACNA1G):c.975G>A:p.Ala325=	coding	Benign
17	50575764	C	T	C50575764T	CACNA1G	NM_018896.5(CACNA1G):c.1362C>T:p.Val454=	coding	Benign
17	50575769	G	A	G50575769A	CACNA1G	NM_018896.5(CACNA1G):c.1367G>A:p.Arg456Gln	coding	Benign
17	50575827	G	A	G50575827A	CACNA1G	NM_018896.5(CACNA1G):c.1425G>A:p.Glu475=	coding	Benign
17	50575991	G	A	G50575991A	CACNA1G	NM_018896.5(CACNA1G):c.1589G>A:p.Arg530His	coding	Benign
17	50575993	C	A	C50575993A	CACNA1G	NM_018896.5(CACNA1G):c.1591C>A:p.Arg531=	coding	Benign
17	50576101	C	T	C50576101T	CACNA1G	NM_018896.5(CACNA1G):c.1699C>T:p.Arg567Cys	coding	Benign
17	50576281	G	A	G50576281A	CACNA1G	NM_018896.5(CACNA1G):c.1879G>A:p.Gly627Arg	coding	Benign
17	50576301	C	T	C50576301T	CACNA1G	NM_018896.5(CACNA1G):c.1899C>T:p.His633=	coding	Benign
17	50578178	C	T	C50578178T	CACNA1G	NM_018896.5(CACNA1G):c.1925-10C>T	noncoding	Benign
17	50578216	C	T	C50578216T	CACNA1G	NM_018896.5(CACNA1G):c.1953C>T:p.Ser651=	coding	Benign
17	50578264	C	T	C50578264T	CACNA1G	NM_018896.5(CACNA1G):c.2001C>T:p.Cys667=	coding	Benign
17	50578306	C	T	C50578306T	CACNA1G	NM_018896.5(CACNA1G):c.2043C>T:p.Ala681=	coding	Benign
17	50578486	C	T	C50578486T	CACNA1G	NM_018896.5(CACNA1G):c.2223C>T:p.Asp741=	coding	Benign
17	50590632	C	T	C50590632T	CACNA1G	NM_018896.5(CACNA1G):c.2453+10C>T	noncoding	Benign
17	50591573	C	T	C50591573T	CACNA1G	NM_018896.5(CACNA1G):c.2592C>T:p.Asn864=	coding	Benign
17	50592089	G	A	G50592089A	CACNA1G	NM_018896.5(CACNA1G):c.2907G>A:p.Ala969=	coding	Benign
17	50596749	C	T	C50596749T	CACNA1G	NM_018896.5(CACNA1G):c.3084C>T:p.His1028=	coding	Benign
17	50596776	G	A	G50596776A	CACNA1G	NM_018896.5(CACNA1G):c.3111G>A:p.Pro1037=	coding	Benign
17	50596865	G	A	G50596865A	CACNA1G	NM_018896.5(CACNA1G):c.3200G>A:p.Arg1067His	coding	Benign
17	50599464	G	A	G50599464A	CACNA1G	NM_018896.5(CACNA1G):c.3295G>A:p.Ala1099Thr	coding	Benign
17	50600720	C	G	C50600720G	CACNA1G	NM_018896.5(CACNA1G):c.3691-6C>G	noncoding	Benign
17	50600746	C	T	C50600746T	CACNA1G	NM_018896.5(CACNA1G):c.3711C>T:p.Arg1237=	coding	Benign
17	50603023	A	C	A50603023C	CACNA1G	NM_018896.5(CACNA1G):c.3993A>C:p.Ala1331=	coding	Benign
17	50603050	G	C	G50603050C	CACNA1G	NM_018896.5(CACNA1G):c.4020G>C:p.Ala1340=	coding	Benign
17	50603114	C	T	C50603114T	CACNA1G	NM_018896.5(CACNA1G):c.4084C>T:p.Leu1362=	coding	Benign
17	50607905	A	G	A50607905G	CACNA1G	NM_018896.5(CACNA1G):c.4591A>G:p.Met1531Val	coding	Pathogenic
17	50607944	C	A	C50607944A	CACNA1G	NM_018896.5(CACNA1G):c.4630C>A:p.Arg1544=	coding	Benign
17	50615473	C	T	C50615473T	CACNA1G	NM_018896.5(CACNA1G):c.4872C>T:p.Asn1624=	coding	Benign
17	50617516	G	A	G50617516A	CACNA1G	NM_018896.5(CACNA1G):c.5100G>A:p.Ser1700=	coding	Benign
17	50617560	G	A	G50617560A	CACNA1G	NM_018896.5(CACNA1G):c.5144G>A:p.Arg1715His	coding	Pathogenic
17	50617936	G	A	G50617936A	CACNA1G	NM_018896.5(CACNA1G):c.5226+7G>A	noncoding	Benign
17	50618750	G	T	G50618750T	CACNA1G	NM_018896.5(CACNA1G):c.5523G>T:p.Val1841=	coding	Benign
17	50618828	A	G	A50618828G	CACNA1G	NM_018896.5(CACNA1G):c.5601A>G:p.Leu1867=	coding	Benign
17	50619754	C	T	C50619754T	CACNA1G	NM_018896.5(CACNA1G):c.5853C>T:p.Asp1951=	coding	Benign
17	50626196	G	A	G50626196A	CACNA1G	NM_018896.5(CACNA1G):c.6579G>A:p.Pro2193=	coding	Benign
17	50626568	G	A	G50626568A	CACNA1G	NM_018896.5(CACNA1G):c.6951G>A:p.Glu2317=	coding	Benign
17	50626582	G	A	G50626582A	CACNA1G	NM_018896.5(CACNA1G):c.6965G>A:p.Arg2322Gln	coding	Benign
17	50626697	A	G	A50626697G	CACNA1G	NM_018896.5(CACNA1G):c.7080A>G:p.Lys2360=	coding	Benign
17	50655988	C	T	C50655988T	ABCC3	NM_003786.4(ABCC3):c.202C>T:p.His68Tyr	coding	Benign
17	50656775	G	A	G50656775A	ABCC3	NM_003786.4(ABCC3):c.296G>A:p.Arg99Gln	coding	Benign
17	50657132	G	A	G50657132A	ABCC3	NM_003786.4(ABCC3):c.435G>A:p.Val145=	coding	Benign
17	50675684	G	A	G50675684A	ABCC3	NM_003786.4(ABCC3):c.2768G>A:p.Arg923Gln	coding	Benign
17	50678089	A	G	A50678089G	ABCC3	NM_003786.4(ABCC3):c.3579-4A>G	noncoding	Benign
17	50684002	G	A	G50684002A	ABCC3	NM_003786.4(ABCC3):c.4008G>A:p.Leu1336=	coding	Benign
17	50741141	G	A	G50741141A	LUC7L3	NM_016424.5(LUC7L3):c.246G>A:p.Glu82=	coding	Benign
17	50836029	G	A	G50836029A	WFIKKN2	NM_175575.6(WFIKKN2):c.92G>A:p.Arg31Gln	coding	Benign
17	50982647	A	G	A50982647G	SPAG9	NM_001130528.3(SPAG9):c.3114T>C:p.Tyr1038=	coding	Benign
17	50984913	C	T	C50984913T	SPAG9	NM_001130528.3(SPAG9):c.3088+10G>A	noncoding	Benign
17	50993785	G	A	G50993785A	SPAG9	NM_001130528.3(SPAG9):c.2377C>T:p.Leu793=	coding	Benign
17	50995048	C	T	C50995048T	SPAG9	NM_001130528.3(SPAG9):c.2226+9G>A	noncoding	Benign
17	50998536	C	T	C50998536T	SPAG9	NM_001130528.3(SPAG9):c.1746G>A:p.Thr582=	coding	Benign
17	51005202	G	A	G51005202A	SPAG9	NM_001130528.3(SPAG9):c.1476+10C>T	noncoding	Benign
17	51161282	T	G	T51161282G	NME1	NM_198175.1(NME1):c.416+10T>G	noncoding	Benign
17	53823802	C	T	C53823802T	KIF2B	NM_032559.5(KIF2B):c.769C>T:p.Arg257Cys	coding	Benign
17	53824687	C	T	C53824687T	KIF2B	NM_032559.5(KIF2B):c.1654C>T:p.Arg552Cys	coding	Benign
17	55265559	G	A	G55265559A	HLF	NM_002126.5(HLF):c.75G>A:p.Leu25=	coding	Benign
17	55394523	A	G	A55394523G	MMD	NM_012329.3(MMD):c.528T>C:p.Asp176=	coding	Benign
17	56594227	G	T	G56594227T	NOG	NM_005450.6(NOG):c.4G>T:p.Glu2Ter	coding	Pathogenic
17	56594291	C	T	C56594291T	NOG	NM_005450.5(NOG):c.68C>T:p.Thr23Ile	coding	Benign
17	56594326	C	G	C56594326G	NOG	NM_005450.5(NOG):c.103C>G:p.Pro35Ala	coding	Pathogenic
17	56594326	C	T	C56594326T	NOG	NM_005450.5(NOG):c.103C>T:p.Pro35Ser	coding	Pathogenic
17	56594327	C	G	C56594327G	NOG	NM_005450.5(NOG):c.104C>G:p.Pro35Arg	coding	Pathogenic
17	56594551	C	T	C56594551T	NOG	NM_005450.5(NOG):c.328C>T:p.Gln110Ter	coding	Pathogenic
17	56594609	T	A	T56594609A	NOG	NM_005450.5(NOG):c.386T>A:p.Leu129Ter	coding	Pathogenic
17	56594722	C	G	C56594722G	NOG	NM_005450.5(NOG):c.499C>G:p.Arg167Gly	coding	Pathogenic
17	56594774	G	A	G56594774A	NOG	NM_005450.5(NOG):c.551G>A:p.Cys184Tyr	coding	Pathogenic
17	56594788	G	T	G56594788T	NOG	NM_005450.5(NOG):c.565G>T:p.Gly189Cys	coding	Pathogenic
17	56594805	G	A	G56594805A	NOG	NM_005450.6(NOG):c.582G>A:p.Pro194=	coding	Benign
17	56594834	G	T	G56594834T	NOG	NM_005450.5(NOG):c.611G>T:p.Arg204Leu	coding	Pathogenic
17	56594837	G	A	G56594837A	NOG	NM_005450.5(NOG):c.614G>A:p.Trp205Ter	coding	Pathogenic
17	56594838	G	C	G56594838C	NOG	NM_005450.5(NOG):c.615G>C:p.Trp205Cys	coding	Pathogenic
17	56594872	T	G	T56594872G	NOG	NM_005450.5(NOG):c.649T>G:p.Trp217Gly	coding	Pathogenic
17	56594887	T	G	T56594887G	NOG	NM_005450.5(NOG):c.664T>G:p.Tyr222Asp	coding	Pathogenic
17	56594888	A	G	A56594888G	NOG	NM_005450.5(NOG):c.665A>G:p.Tyr222Cys	coding	Pathogenic
17	56594891	C	T	C56594891T	NOG	NM_005450.5(NOG):c.668C>T:p.Pro223Leu	coding	Pathogenic
17	56594919	C	G	C56594919G	NOG	NM_005450.5(NOG):c.696C>G:p.Cys232Trp	coding	Pathogenic
17	56834854	G	A	G56834854A	DGKE	NM_003647.3(DGKE):c.59G>A:p.Gly20Glu	coding	Benign
17	56834922	C	T	C56834922T	DGKE	NM_003647.3(DGKE):c.127C>T:p.Gln43Ter	coding	Pathogenic
17	56834924	G	A	G56834924A	DGKE	NM_003647.3(DGKE):c.129G>A:p.Gln43=	coding	Benign
17	56835096	A	T	A56835096T	DGKE	NM_003647.3(DGKE):c.301A>T:p.Lys101Ter	coding	Pathogenic
17	56844133	A	C	A56844133C	DGKE	NM_003647.3(DGKE):c.579A>C:p.Thr193=	coding	Benign
17	56848105	A	G	A56848105G	DGKE	NM_003647.3(DGKE):c.888+40A>G	noncoding	Pathogenic
17	56848694	A	G	A56848694G	DGKE	NM_003647.3(DGKE):c.889-2A>G	noncoding	Pathogenic
17	56848695	G	A	G56848695A	DGKE	NM_003647.3(DGKE):c.889-1G>A	noncoding	Pathogenic
17	56848773	G	A	G56848773A	DGKE	NM_003647.3(DGKE):c.966G>A:p.Trp322Ter	coding	Pathogenic
17	56848816	C	T	C56848816T	DGKE	NM_003647.3(DGKE):c.1009C>T:p.Arg337Ter	coding	Pathogenic
17	56856510	A	T	A56856510T	DGKE	NM_003647.3(DGKE):c.1099-2A>T	noncoding	Pathogenic
17	56861850	C	T	C56861850T	DGKE	NM_003647.3(DGKE):c.1344C>T:p.Asn448=	coding	Benign
17	56861882	G	A	G56861882A	DGKE	NM_003647.3(DGKE):c.1376G>A:p.Trp459Ter	coding	Pathogenic
17	56862167	T	C	T56862167C	DGKE	NM_003647.3(DGKE):c.1440T>C:p.Val480=	coding	Benign
17	56891868	C	T	C56891868T	TRIM25	NM_005082.5(TRIM25):c.1725G>A:p.Thr575=	coding	Benign
17	56908513	C	T	C56908513T	TRIM25	NM_005082.5(TRIM25):c.648G>A:p.Ala216=	coding	Benign
17	56913436	T	C	T56913436C	TRIM25	NM_005082.5(TRIM25):c.553A>G:p.Thr185Ala	coding	Benign
17	56950408	C	T	C56950408T	COIL	NM_004645.3(COIL):c.834G>A:p.Glu278=	coding	Benign
17	57105642	G	A	G57105642A	AKAP1	NM_003488.4(AKAP1):c.178G>A:p.Val60Met	coding	Benign
17	57106116	G	A	G57106116A	AKAP1	NM_003488.4(AKAP1):c.652G>A:p.Ala218Thr	coding	Benign
17	57106186	G	C	G57106186C	AKAP1	NM_003488.4(AKAP1):c.722G>C:p.Gly241Ala	coding	Benign
17	57106431	G	A	G57106431A	AKAP1	NM_003488.4(AKAP1):c.967G>A:p.Gly323Ser	coding	Benign
17	57106452	A	G	A57106452G	AKAP1	NM_003488.4(AKAP1):c.988A>G:p.Ser330Gly	coding	Benign
17	57106628	C	T	C57106628T	AKAP1	NM_003488.4(AKAP1):c.1164C>T:p.Ser388=	coding	Benign
17	57106889	G	A	G57106889A	AKAP1	NM_003488.4(AKAP1):c.1425G>A:p.Pro475=	coding	Benign
17	57110059	C	T	C57110059T	AKAP1	NM_003488.4(AKAP1):c.1749C>T:p.Ser583=	coding	Benign
17	57112485	A	G	A57112485G	AKAP1	NM_003488.4(AKAP1):c.1976-6A>G	noncoding	Benign
17	57114515	C	T	C57114515T	AKAP1	NM_003488.4(AKAP1):c.2160C>T:p.Ala720=	coding	Benign
17	57116268	G	A	G57116268A	AKAP1	NM_003488.4(AKAP1):c.2432+7G>A	noncoding	Benign
17	57116881	G	A	G57116881A	AKAP1	NM_003488.4(AKAP1):c.2454G>A:p.Pro818=	coding	Benign
17	57118430	G	A	G57118430A	AKAP1	NM_003488.4(AKAP1):c.2550G>A:p.Thr850=	coding	Benign
17	57839930	G	A	G57839930A	MRPS23	NM_016070.4(MRPS23):c.426C>T:p.His142=	coding	Benign
17	57849336	G	C	G57849336C	MRPS23	NM_016070.4(MRPS23):c.119C>G:p.Pro40Arg	coding	Pathogenic
17	58193064	G	A	G58193064A	EPX	NM_000502.6(EPX):c.103G>A:p.Val35Ile	coding	Benign
17	58193077	G	A	G58193077A	EPX	NM_000502.6(EPX):c.116G>A:p.Cys39Tyr	coding	Benign
17	58193839	C	T	C58193839T	EPX	NM_000502.6(EPX):c.464+8C>T	noncoding	Benign
17	58195140	C	A	C58195140A	EPX	NM_000502.6(EPX):c.771C>A:p.Cys257Ter	coding	Benign
17	58197012	C	T	C58197012T	EPX	NM_000502.6(EPX):c.875C>T:p.Pro292Leu	coding	Benign
17	58197052	C	T	C58197052T	EPX	NM_000502.6(EPX):c.915C>T:p.Leu305=	coding	Benign
17	58203086	A	T	A58203086T	EPX	NM_000502.6(EPX):c.1714A>T:p.Asn572Tyr	coding	Benign
17	58203244	G	A	G58203244A	EPX	NM_000502.6(EPX):c.1872G>A:p.Leu624=	coding	Benign
17	58205607	G	C	G58205607C	MKS1	NM_017777.4(MKS1):c.*472C>G	noncoding	Benign/Likely_benign
17	58205665	G	A	G58205665A	MKS1	NM_001165927.1(MKS1):c.*414C>T	noncoding	Benign
17	58206004	G	A	G58206004A	MKS1	NM_001165927.1(MKS1):c.*75C>T	noncoding	Benign
17	58206088	C	G	C58206088G	MKS1	NM_001165927.1(MKS1):c.1641G>C:p.Leu547=	coding	Benign
17	58206172	T	A	T58206172A	MKS1	NM_001165927.1(MKS1):c.1559-2A>T	noncoding	Pathogenic
17	58206282	C	A	C58206282A	MKS1	NM_001165927.1(MKS1):c.1558+1G>T	noncoding	Pathogenic
17	58206382	T	C	T58206382C	MKS1	NM_001165927.1(MKS1):c.1461-2A>G	noncoding	Pathogenic
17	58207105	G	C	G58207105C	MKS1	NM_001165927.1(MKS1):c.1357C>G:p.Arg453Gly	coding	Pathogenic
17	58207883	C	T	C58207883T	MKS1	NM_001165927.1(MKS1):c.1243+11G>A	noncoding	Benign
17	58207906	G	A	G58207906A	MKS1	NM_001165927.1(MKS1):c.1231C>T:p.Pro411Ser	coding	Pathogenic
17	58207945	G	A	G58207945A	MKS1	NM_017777.4(MKS1):c.1222C>T:p.Gln408Ter	coding	Pathogenic
17	58207959	G	A	G58207959A	MKS1	NM_001165927.1(MKS1):c.1178C>T:p.Ser393Leu	coding	Pathogenic/Likely_pathogenic
17	58208003	T	G	T58208003G	MKS1	NM_001165927.1(MKS1):c.1136-2A>C	noncoding	Pathogenic
17	58208542	G	A	G58208542A	MKS1	NM_001165927.1(MKS1):c.1036C>T:p.Gln346Ter	coding	Pathogenic/Likely_pathogenic
17	58208585	T	G	T58208585G	MKS1	NM_001165927.1(MKS1):c.995-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	58210531	G	A	G58210531A	MKS1	NM_001165927.1(MKS1):c.994+128C>T	noncoding	Benign
17	58210658	C	T	C58210658T	MKS1	NM_001165927.1(MKS1):c.994+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	58210988	C	T	C58210988T	MKS1	NM_001165927.1(MKS1):c.920G>A:p.Gly307Glu	coding	Pathogenic
17	58212184	T	C	T58212184C	MKS1	NM_001165927.1(MKS1):c.885+194A>G	noncoding	Benign
17	58212973	T	C	T58212973C	MKS1	NM_001165927.1(MKS1):c.828+9A>G	noncoding	Benign
17	58212996	G	A	G58212996A	MKS1	NM_001165927.1(MKS1):c.814C>T:p.Arg272Ter	coding	Pathogenic/Likely_pathogenic
17	58213011	C	A	C58213011A	MKS1	NM_001165927.1(MKS1):c.799G>T:p.Glu267Ter	coding	Pathogenic/Likely_pathogenic
17	58213195	A	G	A58213195G	MKS1	NM_001165927.1(MKS1):c.720-105T>C	noncoding	Benign
17	58213871	T	A	T58213871A	MKS1	NM_001165927.1(MKS1):c.615-2A>T	noncoding	Pathogenic
17	58214740	C	T	C58214740T	MKS1	NM_001165927.1(MKS1):c.485+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	58214748	G	A	G58214748A	MKS1	NM_001165927.1(MKS1):c.478C>T:p.Arg160Ter	coding	Pathogenic/Likely_pathogenic
17	58214757	G	A	G58214757A	MKS1	NM_017777.4(MKS1):c.499C>T:p.Gln167Ter	coding	Pathogenic
17	58214784	G	A	G58214784A	MKS1	NM_001165927.1(MKS1):c.442C>T:p.Arg148Ter	coding	Pathogenic
17	58214798	G	T	G58214798T	MKS1	NM_017777.4(MKS1):c.458C>A:p.Ser153Ter	coding	Pathogenic
17	58216138	G	A	G58216138A	MKS1	NM_017777.4(MKS1):c.367C>T:p.Arg123Ter	coding	Pathogenic
17	58216599	T	C	T58216599C	MKS1	NM_001165927.1(MKS1):c.231+67A>G	noncoding	Benign
17	58216664	A	T	A58216664T	MKS1	NM_001165927.1(MKS1):c.231+2T>A	noncoding	Pathogenic
17	58216780	C	T	C58216780T	MKS1	NM_001165927.1(MKS1):c.161-44G>A	noncoding	Benign
17	58218686	G	A	G58218686A	MKS1	NM_017777.4(MKS1):c.124C>T:p.Gln42Ter	coding	Pathogenic
17	58218875	C	G	C58218875G	MKS1	NM_001165927.1(MKS1):c.51-146G>C	noncoding	Benign
17	58219007	G	T	G58219007T	MKS1	NM_001165927.1(MKS1):c.51-278C>A	noncoding	Benign
17	58219152	G	A	G58219152A	MKS1	NM_017777.4(MKS1):c.79C>T:p.Arg27Ter	coding	Pathogenic
17	58219176	C	A	C58219176A	MKS1	NM_001165927.1(MKS1):c.50+286G>T	coding	Pathogenic
17	58219248	G	C	G58219248C	MKS1	NM_001165927.1(MKS1):c.50+214C>G	coding	Benign/Likely_benign
17	58243009	C	G	C58243009G	LPO	NM_006151.3(LPO):c.30C>G:p.Leu10=	coding	Benign
17	58244090	G	C	G58244090C	LPO	NM_006151.3(LPO):c.164+9G>C	noncoding	Benign
17	58247627	C	T	C58247627T	LPO	NM_006151.3(LPO):c.314C>T:p.Thr105Ile	coding	Benign
17	58252433	G	T	G58252433T	LPO	NM_006151.3(LPO):c.1032G>T:p.Leu344=	coding	Benign
17	58254827	A	C	A58254827C	LPO	NM_006151.3(LPO):c.1122A>C:p.Ser374=	coding	Benign
17	58267596	T	C	T58267596C	LPO	NM_006151.3(LPO):c.1931+10T>C	noncoding	Benign
17	58270707	G	A	G58270707A	MPO	NM_000250.2(MPO):c.2187C>T:p.Asn729=	coding	Benign
17	58270761	G	A	G58270761A	MPO	NM_000250.2(MPO):c.2133C>T:p.Thr711=	coding	Benign
17	58270865	T	G	T58270865G	MPO	NM_000250.2(MPO):c.2031-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	58270869	T	G	T58270869G	MPO	NM_000250.2(MPO):c.2031-6A>C	noncoding	Benign
17	58272825	A	C	A58272825C	MPO	NM_000250.2(MPO):c.1715T>G:p.Leu572Trp	coding	Pathogenic
17	58272835	G	A	G58272835A	MPO	NM_000250.2(MPO):c.1705C>T:p.Arg569Trp	coding	Pathogenic
17	58273534	C	T	C58273534T	MPO	NM_000250.2(MPO):c.1501G>A:p.Gly501Ser	coding	Pathogenic
17	58273540	G	A	G58273540A	MPO	NM_000250.2(MPO):c.1495C>T:p.Arg499Cys	coding	Pathogenic
17	58273625	C	T	C58273625T	MPO	NM_000250.2(MPO):c.1410G>A:p.Thr470=	coding	Benign
17	58273658	G	A	G58273658A	MPO	NM_000250.2(MPO):c.1377C>T:p.Tyr459=	coding	Benign
17	58275535	G	C	G58275535C	MPO	NM_000250.2(MPO):c.1365+7C>G	noncoding	Benign
17	58279553	T	C	T58279553C	MPO	NM_000250.2(MPO):c.518A>G:p.Tyr173Cys	coding	Pathogenic
17	58280442	C	T	C58280442T	MPO	NM_000250.2(MPO):c.172G>A:p.Asp58Asn	coding	Benign
17	58306816	A	G	A58306816G	TSPOAP1	NM_004758.4(TSPOAP1):c.5136T>C:p.Ile1712=	coding	Benign
17	58308636	G	A	G58308636A	TSPOAP1	NM_004758.4(TSPOAP1):c.4636C>T:p.Pro1546Ser	coding	Benign
17	58309273	C	T	C58309273T	TSPOAP1	NM_004758.4(TSPOAP1):c.3999G>A:p.Pro1333=	coding	Benign
17	58309371	C	T	C58309371T	TSPOAP1	NM_004758.4(TSPOAP1):c.3901G>A:p.Asp1301Asn	coding	Benign
17	58310100	C	T	C58310100T	TSPOAP1	NM_004758.4(TSPOAP1):c.3758G>A:p.Arg1253His	coding	Benign
17	58310741	C	A	C58310741A	TSPOAP1	NM_004758.4(TSPOAP1):c.3470G>T:p.Gly1157Val	coding	Benign
17	58311725	G	A	G58311725A	TSPOAP1	NM_004758.4(TSPOAP1):c.2930-3C>T	noncoding	Benign
17	58319302	A	G	A58319302G	TSPOAP1	NM_004758.4(TSPOAP1):c.1495-8T>C	noncoding	Benign
17	58320564	C	G	C58320564G	TSPOAP1	NM_004758.4(TSPOAP1):c.1440G>C:p.Gln480His	coding	Benign
17	58322759	C	T	C58322759T	TSPOAP1	NM_004758.4(TSPOAP1):c.1212G>A:p.Ala404=	coding	Benign
17	58325640	C	A	C58325640A	TSPOAP1	NM_004758.4(TSPOAP1):c.644G>T:p.Arg215Leu	coding	Benign
17	58327685	C	T	C58327685T	TSPOAP1	NM_004758.4(TSPOAP1):c.236G>A:p.Gly79Glu	coding	Benign
17	58355001	C	G	C58355001G	RNF43	NM_017763.6(RNF43):c.2309-15G>C	noncoding	Benign
17	58358524	G	T	G58358524T	RNF43	NM_017763.6(RNF43):c.1252C>A:p.Leu418Met	coding	Benign
17	58363582	G	A	G58363582A	RNF43	NM_017763.5(RNF43):c.394C>T:p.Arg132Ter	coding	Pathogenic
17	58370949	G	A	G58370949A	RNF43	NM_001305545.1(RNF43):c.-45C>T	coding	Pathogenic
17	58415439	T	C	T58415439C	RNF43	NM_017763.6(RNF43):c.139A>G:p.Ile47Val	coding	Benign
17	58495103	T	A	T58495103A	MTMR4	NM_004687.5(MTMR4):c.3039A>T:p.Gly1013=	coding	Benign
17	58508178	A	G	A58508178G	MTMR4	NM_004687.5(MTMR4):c.648T>C:p.Ile216=	coding	Benign
17	58508751	A	G	A58508751G	MTMR4	NM_004687.5(MTMR4):c.384T>C:p.Phe128=	coding	Benign
17	58520745	C	T	C58520745T	SEPTIN4	NM_001256782.1(SEPTIN4):c.1420G>A:p.Glu474Lys	coding	Benign
17	58561539	G	A	G58561539A	TEX14	NM_198393.3(TEX14):c.4258C>T:p.Leu1420Phe	coding	Benign
17	58585934	C	A	C58585934A	TEX14	NM_198393.3(TEX14):c.2937G>T:p.Thr979=	coding	Benign
17	58586089	A	G	A58586089G	TEX14	NM_198393.3(TEX14):c.2789-7T>C	noncoding	Benign
17	58602543	C	A	C58602543A	TEX14	NM_198393.3(TEX14):c.1384G>T:p.Val462Leu	coding	Benign
17	58615264	G	A	G58615264A	TEX14	NM_198393.3(TEX14):c.849C>T:p.Ala283=	coding	Benign
17	58622858	G	A	G58622858A	TEX14	NM_198393.3(TEX14):c.406C>T:p.Arg136Cys	coding	Benign
17	58623010	C	A	C58623010A	TEX14	NM_031272.4(TEX14):c.254G>T:p.Arg85Leu	coding	Pathogenic
17	58692596	G	T	G58692596T	RAD51C	NM_002876.3(RAD51C):c.-48G>T	noncoding	Benign
17	58692674	C	T	C58692674T	RAD51C	NM_058216.3(RAD51C):c.31C>T:p.Gln11Ter	coding	Pathogenic
17	58692733	G	A	G58692733A	RAD51C	NM_058216.3(RAD51C):c.90G>A:p.Ala30=	coding	Benign
17	58692740	C	T	C58692740T	RAD51C	NM_058216.3(RAD51C):c.97C>T:p.Gln33Ter	coding	Pathogenic
17	58692776	G	T	G58692776T	RAD51C	NM_058216.3(RAD51C):c.133G>T:p.Glu45Ter	coding	Pathogenic/Likely_pathogenic
17	58692789	G	T	G58692789T	RAD51C	NM_058216.3(RAD51C):c.145+1G>T	coding	Pathogenic/Likely_pathogenic
17	58694971	A	G	A58694971G	RAD51C	NM_058216.3(RAD51C):c.186A>G:p.Gln62=	coding	Benign/Likely_benign
17	58694974	T	C	T58694974C	RAD51C	NM_058216.3(RAD51C):c.189T>C:p.Ile63=	coding	Benign/Likely_benign
17	58694980	A	G	A58694980G	RAD51C	NM_058216.3(RAD51C):c.195A>G:p.Arg65=	coding	Benign/Likely_benign
17	58694984	G	T	G58694984T	RAD51C	NM_058216.3(RAD51C):c.199G>T:p.Glu67Ter	coding	Pathogenic
17	58694989	T	A	T58694989A	RAD51C	NM_058216.3(RAD51C):c.204T>A:p.Cys68Ter	coding	Pathogenic
17	58695010	T	G	T58695010G	RAD51C	NM_058216.3(RAD51C):c.225T>G:p.Tyr75Ter	coding	Pathogenic
17	58695035	A	T	A58695035T	RAD51C	NM_058216.3(RAD51C):c.250A>T:p.Lys84Ter	coding	Pathogenic
17	58695059	G	T	G58695059T	RAD51C	NM_058216.3(RAD51C):c.274G>T:p.Glu92Ter	coding	Pathogenic
17	58695062	C	T	C58695062T	RAD51C	NM_058216.3(RAD51C):c.277C>T:p.Gln93Ter	coding	Pathogenic
17	58695097	T	A	T58695097A	RAD51C	NM_058216.3(RAD51C):c.312T>A:p.Cys104Ter	coding	Pathogenic
17	58695099	C	G	C58695099G	RAD51C	NM_058216.3(RAD51C):c.314C>G:p.Ser105Ter	coding	Pathogenic
17	58695161	G	A	G58695161A	RAD51C	NM_058216.3(RAD51C):c.376G>A:p.Ala126Thr	coding	Benign/Likely_benign
17	58695182	C	T	C58695182T	RAD51C	NM_058216.3(RAD51C):c.397C>T:p.Gln133Ter	coding	Pathogenic
17	58695191	T	C	T58695191C	RAD51C	NM_058216.3(RAD51C):c.404+2T>C	coding	Pathogenic/Likely_pathogenic
17	58696697	C	T	C58696697T	RAD51C	NM_058216.3(RAD51C):c.409C>T:p.Gln137Ter	coding	Pathogenic
17	58696747	T	G	T58696747G	RAD51C	NM_058216.3(RAD51C):c.459T>G:p.Gly153=	coding	Benign/Likely_benign
17	58696790	A	T	A58696790T	RAD51C	NM_058216.3(RAD51C):c.502A>T:p.Arg168Ter	coding	Pathogenic
17	58696820	C	T	C58696820T	RAD51C	NM_058216.3(RAD51C):c.532C>T:p.Gln178Ter	coding	Pathogenic
17	58696853	G	T	G58696853T	RAD51C	NM_058216.3(RAD51C):c.565G>T:p.Gly189Ter	coding	Pathogenic
17	58696875	A	G	A58696875G	RAD51C	NM_058216.3(RAD51C):c.571+16A>G	noncoding	Benign/Likely_benign
17	58703179	G	T	G58703179T	RAD51C	NM_058216.3(RAD51C):c.572-17G>T	noncoding	Benign/Likely_benign
17	58703195	G	C	G58703195C	RAD51C	NM_058216.3(RAD51C):c.572-1G>C	noncoding	Pathogenic/Likely_pathogenic
17	58703201	C	T	C58703201T	RAD51C	NM_058216.3(RAD51C):c.577C>T:p.Arg193Ter	coding	Pathogenic
17	58703213	G	T	G58703213T	RAD51C	NM_058216.3(RAD51C):c.589G>T:p.Glu197Ter	coding	Pathogenic
17	58703254	T	G	T58703254G	RAD51C	NM_058216.3(RAD51C):c.630T>G:p.Tyr210Ter	coding	Pathogenic
17	58703316	C	G	C58703316G	RAD51C	NM_058216.3(RAD51C):c.692C>G:p.Ser231Ter	coding	Pathogenic
17	58703325	C	G	C58703325G	RAD51C	NM_058216.3(RAD51C):c.701C>G:p.Ser234Ter	coding	Pathogenic
17	58709841	T	C	T58709841C	RAD51C	NM_058216.3(RAD51C):c.706-18T>C	noncoding	Benign/Likely_benign
17	58709857	A	G	A58709857G	RAD51C	NM_058216.3(RAD51C):c.706-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	58709862	C	T	C58709862T	RAD51C	NM_058216.3(RAD51C):c.709C>T:p.Arg237Ter	coding	Pathogenic
17	58709897	T	C	T58709897C	RAD51C	NM_058216.3(RAD51C):c.744T>C:p.Phe248=	coding	Benign/Likely_benign
17	58709926	G	A	G58709926A	RAD51C	NM_058216.3(RAD51C):c.773G>A:p.Arg258His	coding	Pathogenic/Likely_pathogenic
17	58709955	C	T	C58709955T	RAD51C	NM_058216.3(RAD51C):c.802C>T:p.Gln268Ter	coding	Pathogenic
17	58709991	G	A	G58709991A	RAD51C	NM_058216.3(RAD51C):c.837+1G>A	coding	Pathogenic
17	58710003	T	C	T58710003C	RAD51C	NM_058216.3(RAD51C):c.837+13T>C	noncoding	Benign/Likely_benign
17	58720767	A	G	A58720767G	RAD51C	NM_058216.3(RAD51C):c.859A>G:p.Thr287Ala	coding	Benign/Likely_benign
17	58724038	A	C	A58724038C	RAD51C	NM_058216.3(RAD51C):c.905-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	58724038	A	G	A58724038G	RAD51C	NM_058216.3(RAD51C):c.905-2A>G	noncoding	Pathogenic
17	58724049	G	A	G58724049A	RAD51C	NM_058216.3(RAD51C):c.914G>A:p.Trp305Ter	coding	Pathogenic/Likely_pathogenic
17	58724080	T	C	T58724080C	RAD51C	NM_058216.3(RAD51C):c.945T>C:p.Phe315=	coding	Benign/Likely_benign
17	58724083	T	C	T58724083C	RAD51C	NM_058216.3(RAD51C):c.948T>C:p.His316=	coding	Benign/Likely_benign
17	58724090	C	T	C58724090T	RAD51C	NM_058216.3(RAD51C):c.955C>T:p.Arg319Ter	coding	Pathogenic
17	58998743	T	A	T58998743A	TRIM37	NM_015294.6(TRIM37):c.*634A>T	coding	Benign
17	58999004	T	C	T58999004C	TRIM37	NM_015294.6(TRIM37):c.*373A>G	coding	Benign
17	59012453	G	C	G59012453C	TRIM37	NM_015294.6(TRIM37):c.2577-7C>G	noncoding	Benign/Likely_benign
17	59015674	C	T	C59015674T	TRIM37	NM_015294.6(TRIM37):c.2512G>A:p.Val838Ile	coding	Benign
17	59028623	G	A	G59028623A	TRIM37	NM_015294.6(TRIM37):c.2049C>T:p.Ala683=	coding	Benign/Likely_benign
17	59041818	G	T	G59041818T	TRIM37	NM_015294.6(TRIM37):c.1748C>A:p.Pro583His	coding	Benign/Likely_benign
17	59049297	G	A	G59049297A	TRIM37	NM_015294.6(TRIM37):c.1411C>T:p.Arg471Ter	coding	Pathogenic
17	59051264	A	G	A59051264G	TRIM37	NM_015294.6(TRIM37):c.1264T>C:p.Leu422=	coding	Benign
17	59056907	G	C	G59056907C	TRIM37	NM_015294.6(TRIM37):c.1167C>G:p.Tyr389Ter	coding	Pathogenic
17	59061055	T	C	T59061055C	TRIM37	NM_015294.6(TRIM37):c.996A>G:p.Ser332=	coding	Benign
17	59062654	G	A	G59062654A	TRIM37	NM_015294.6(TRIM37):c.861-6C>T	noncoding	Benign
17	59081191	G	A	G59081191A	TRIM37	NM_015294.6(TRIM37):c.398C>T:p.Ala133Val	coding	Benign/Likely_benign
17	59084045	C	G	C59084045G	TRIM37	NM_015294.6(TRIM37):c.326G>C:p.Cys109Ser	coding	Pathogenic
17	59088391	G	A	G59088391A	TRIM37	NM_015294.6(TRIM37):c.181C>T:p.Arg61Ter	coding	Pathogenic
17	59106697	T	C	T59106697C	TRIM37	NM_015294.6(TRIM37):c.-236A>G	noncoding	Benign
17	59106801	A	C	A59106801C	TRIM37	NM_015294.6(TRIM37):c.-340T>G	noncoding	Benign
17	59211208	G	A	G59211208A	SMG8	NM_018149.6(SMG8):c.1157G>A:p.Ser386Asn	coding	Benign
17	59213141	C	T	C59213141T	SMG8	NM_018149.6(SMG8):c.2318C>T:p.Pro773Leu	coding	Benign
17	59573835	A	G	A59573835G	DHX40	NM_024612.5(DHX40):c.642A>G:p.Glu214=	coding	Benign
17	59644420	C	T	C59644420T	CLTC	NM_004859.4(CLTC):c.187C>T:p.Arg63Ter	coding	Pathogenic
17	59651290	C	T	C59651290T	CLTC	NM_004859.4(CLTC):c.769C>T:p.Gln257Ter	coding	Pathogenic
17	59666540	C	T	C59666540T	CLTC	NM_004859.4(CLTC):c.1843C>T:p.Gln615Ter	coding	Pathogenic
17	59666899	C	T	C59666899T	CLTC	NM_004859.4(CLTC):c.2050C>T:p.Gln684Ter	coding	Pathogenic
17	59668907	C	A	C59668907A	CLTC	NM_004859.4(CLTC):c.2259C>A:p.Cys753Ter	coding	Pathogenic
17	59677061	C	T	C59677061T	CLTC	NM_004859.4(CLTC):c.2669C>T:p.Pro890Leu	coding	Pathogenic
17	59679388	C	T	C59679388T	CLTC	NM_004859.4(CLTC):c.2797-9C>T	noncoding	Benign
17	59681369	T	C	T59681369C	CLTC	NM_004859.4(CLTC):c.3140T>C:p.Leu1047Pro	coding	Pathogenic
17	59683971	G	T	G59683971T	CLTC	NM_004859.4(CLTC):c.4420G>T:p.Glu1474Ter	coding	Pathogenic
17	59685644	C	T	C59685644T	CLTC	NM_004859.4(CLTC):c.4663C>T:p.Gln1555Ter	coding	Pathogenic
17	59697655	C	T	C59697655T	PTRH2	NM_016077.5(PTRH2):c.324G>A:p.Trp108Ter	coding	Pathogenic
17	59697725	T	G	T59697725G	PTRH2	NM_016077.4(PTRH2):c.254A>C:p.Gln85Pro	coding	Pathogenic/Likely_pathogenic
17	59697811	T	C	T59697811C	PTRH2	NM_016077.4(PTRH2):c.168A>G:p.Ala56=	coding	Benign/Likely_benign
17	59890847	A	G	A59890847G	TUBD1	NM_016261.4(TUBD1):c.156T>C:p.Ser52=	coding	Benign
17	59893319	G	A	G59893319A	RPS6KB1	NM_003161.4(RPS6KB1):c.135G>A:p.Glu45=	coding	Benign
17	59914627	T	A	T59914627A	RPS6KB1	NM_003161.4(RPS6KB1):c.313-8T>A	noncoding	Benign
17	60149988	C	G	C60149988G	CA4	NM_000717.5(CA4):c.-47C>G	noncoding	Benign
17	60150011	G	C	G60150011C	CA4	NM_000717.5(CA4):c.-24G>C	noncoding	Benign
17	60156627	G	A	G60156627A	CA4	NM_000717.5(CA4):c.180G>A:p.Lys60=	coding	Benign
17	60156651	A	G	A60156651G	CA4	NM_000717.5(CA4):c.204A>G:p.Gly68=	coding	Benign/Likely_benign
17	60156653	G	A	G60156653A	CA4	NM_000717.5(CA4):c.206G>A:p.Arg69His	coding	Pathogenic
17	60157533	C	T	C60157533T	CA4	NM_000717.5(CA4):c.375C>T:p.Gly125=	coding	Benign/Likely_benign
17	60157767	G	A	G60157767A	CA4	NM_000717.5(CA4):c.492G>A:p.Ala164=	coding	Benign
17	60158078	C	A	C60158078A	CA4	NM_000717.5(CA4):c.531C>A:p.Asn177Lys	coding	Benign/Likely_benign
17	60158357	C	A	C60158357A	CA4	NM_000717.5(CA4):c.655C>A:p.Arg219Ser	coding	Pathogenic
17	60158402	G	A	G60158402A	CA4	NM_000717.5(CA4):c.700G>A:p.Val234Ile	coding	Benign
17	60158418	G	A	G60158418A	CA4	NM_000717.5(CA4):c.716G>A:p.Arg239Gln	coding	Benign
17	60159354	C	T	C60159354T	CA4	NM_000717.5(CA4):c.869C>T:p.Pro290Leu	coding	Benign/Likely_benign
17	60159441	G	A	G60159441A	CA4	NM_000717.5(CA4):c.*17G>A	noncoding	Benign
17	60600648	T	A	T60600648A	PPM1D	NM_003620.4(PPM1D):c.234T>A:p.Pro78=	coding	Benign
17	60600658	G	T	G60600658T	PPM1D	NM_003620.4(PPM1D):c.244G>T:p.Ala82Ser	coding	Benign
17	60600671	C	A	C60600671A	PPM1D	NM_003620.4(PPM1D):c.257C>A:p.Pro86Gln	coding	Benign
17	60600676	C	T	C60600676T	PPM1D	NM_003620.4(PPM1D):c.262C>T:p.Pro88Ser	coding	Benign
17	60600870	C	T	C60600870T	PPM1D	NM_003620.3(PPM1D):c.456C>T:p.Ala152=	coding	Benign
17	60656730	A	C	A60656730C	PPM1D	NM_003620.4(PPM1D):c.1149A>C:p.Gly383=	coding	Benign
17	60656791	C	T	C60656791T	PPM1D	NM_003620.3(PPM1D):c.1210C>T:p.Gln404Ter	coding	Pathogenic
17	60656794	G	T	G60656794T	PPM1D	NM_003620.4(PPM1D):c.1213G>T:p.Glu405Ter	coding	Pathogenic
17	60656802	T	A	T60656802A	PPM1D	NM_003620.3(PPM1D):c.1221T>A:p.Cys407Ter	coding	Pathogenic
17	60663015	G	A	G60663015A	PPM1D	NM_003620.3(PPM1D):c.1281G>A:p.Trp427Ter	coding	Pathogenic
17	60663169	G	A	G60663169A	PPM1D	NM_003620.4(PPM1D):c.1435G>A:p.Ala479Thr	coding	Benign
17	60663235	A	G	A60663235G	PPM1D	NM_003620.4(PPM1D):c.1501A>G:p.Thr501Ala	coding	Benign
17	61400235	G	A	G61400235A	TBX2	NM_005994.4(TBX2):c.59G>A:p.Arg20Gln	coding	Pathogenic
17	61403186	C	T	C61403186T	TBX2	NM_005994.4(TBX2):c.789C>T:p.Val263=	coding	Benign
17	61405206	G	A	G61405206A	TBX2	NM_005994.4(TBX2):c.1056G>A:p.Glu352=	coding	Benign
17	61405275	G	A	G61405275A	TBX2	NM_005994.4(TBX2):c.1125G>A:p.Pro375=	coding	Benign
17	61405329	C	T	C61405329T	TBX2	NM_005994.4(TBX2):c.1179C>T:p.Pro393=	coding	Benign
17	61405362	G	A	G61405362A	TBX2	NM_005994.4(TBX2):c.1212G>A:p.Arg404=	coding	Benign
17	61408079	G	C	G61408079C	TBX2	NM_005994.4(TBX2):c.1712G>C:p.Gly571Ala	coding	Benign
17	61408140	C	G	C61408140G	TBX2	NM_005994.4(TBX2):c.1773C>G:p.Pro591=	coding	Benign
17	61408214	G	A	G61408214A	TBX2	NM_005994.4(TBX2):c.1847G>A:p.Arg616Gln	coding	Benign
17	61456506	G	A	G61456506A	TBX4	NM_001321120.2(TBX4):c.16G>A:p.Gly6Ser	coding	Benign/Likely_benign
17	61456507	G	C	G61456507C	TBX4	NM_001321120.2(TBX4):c.17G>C:p.Gly6Ala	coding	Benign
17	61456514	C	T	C61456514T	TBX4	NM_001321120.2(TBX4):c.24C>T:p.Ser8=	coding	Benign
17	61456594	C	T	C61456594T	TBX4	NM_001321120.2(TBX4):c.104C>T:p.Ala35Val	coding	Benign
17	61456649	C	T	C61456649T	TBX4	NM_001321120.2(TBX4):c.159C>T:p.Asp53=	coding	Benign
17	61456662	G	A	G61456662A	TBX4	NM_001321120.2(TBX4):c.172G>A:p.Ala58Thr	coding	Benign
17	61456674	C	T	C61456674T	TBX4	NM_001321120.2(TBX4):c.184C>T:p.Gln62Ter	coding	Pathogenic
17	61457522	C	T	C61457522T	TBX4	NM_001321120.2(TBX4):c.187-15C>T	noncoding	Benign
17	61457599	G	A	G61457599A	TBX4	NM_001321120.2(TBX4):c.249G>A:p.Ala83=	coding	Benign
17	61457626	T	G	T61457626G	TBX4	NM_001321120.2(TBX4):c.276T>G:p.Ala92=	coding	Benign
17	61457632	G	A	G61457632A	TBX4	NM_001321120.2(TBX4):c.281+1G>A	coding	Pathogenic
17	61457632	G	T	G61457632T	TBX4	NM_001321120.2(TBX4):c.281+1G>T	coding	Pathogenic
17	61465876	T	A	T61465876A	TBX4	NM_001321120.2(TBX4):c.339T>A:p.Tyr113Ter	coding	Pathogenic
17	61465936	A	T	A61465936T	TBX4	NM_001321120.2(TBX4):c.399A>T:p.Lys133Asn	coding	Benign
17	61467502	G	A	G61467502A	TBX4	NM_001321120.2(TBX4):c.402-8G>A	noncoding	Benign
17	61467510	G	A	G61467510A	TBX4	NM_001321120.2(TBX4):c.402G>A:p.Trp134Ter	coding	Pathogenic
17	61478672	G	A	G61478672A	TBX4	NM_001321120.2(TBX4):c.595G>A:p.Val199Ile	coding	Benign
17	61478699	G	A	G61478699A	TBX4	NM_001321120.2(TBX4):c.622G>A:p.Gly208Ser	coding	Benign
17	61479873	C	T	C61479873T	TBX4	NM_001321120.2(TBX4):c.703-8C>T	noncoding	Benign
17	61479887	C	T	C61479887T	TBX4	NM_001321120.2(TBX4):c.709C>T:p.Gln237Ter	coding	Pathogenic
17	61479921	G	T	G61479921T	TBX4	NM_001321120.2(TBX4):c.743G>T:p.Gly248Val	coding	Pathogenic
17	61479958	C	T	C61479958T	TBX4	NM_001321120.2(TBX4):c.780C>T:p.Ala260=	coding	Benign
17	61479980	G	A	G61479980A	TBX4	NM_001321120.2(TBX4):c.791+11G>A	noncoding	Benign
17	61480089	G	C	G61480089C	TBX4	NM_001321120.2(TBX4):c.792-1G>C	noncoding	Pathogenic
17	61480219	C	T	C61480219T	TBX4	NM_001321120.2(TBX4):c.921C>T:p.Asn307=	coding	Benign
17	61480230	C	T	C61480230T	TBX4	NM_001321120.2(TBX4):c.932C>T:p.Ser311Leu	coding	Benign
17	61480239	C	T	C61480239T	TBX4	NM_001321120.2(TBX4):c.941C>T:p.Ala314Val	coding	Benign
17	61480303	C	T	C61480303T	TBX4	NM_001321120.2(TBX4):c.1005C>T:p.His335=	coding	Benign
17	61480316	C	T	C61480316T	TBX4	NM_001321120.2(TBX4):c.1018C>T:p.Arg340Ter	coding	Pathogenic
17	61482932	C	T	C61482932T	TBX4	NM_001321120.2(TBX4):c.1057C>T:p.Arg353Ter	coding	Pathogenic
17	61482949	C	T	C61482949T	TBX4	NM_001321120.2(TBX4):c.1074C>T:p.Ala358=	coding	Benign
17	61482961	G	C	G61482961C	TBX4	NM_001321120.2(TBX4):c.1086G>C:p.Val362=	coding	Benign
17	61482988	C	G	C61482988G	TBX4	NM_001321120.2(TBX4):c.1113C>G:p.Pro371=	coding	Benign/Likely_benign
17	61483033	G	A	G61483033A	TBX4	NM_001321120.2(TBX4):c.1158G>A:p.Glu386=	coding	Benign
17	61483092	C	G	C61483092G	TBX4	NM_001321120.2(TBX4):c.1217C>G:p.Ser406Cys	coding	Benign/Likely_benign
17	61483102	C	T	C61483102T	TBX4	NM_001321120.2(TBX4):c.1227C>T:p.Asp409=	coding	Benign
17	61483324	C	T	C61483324T	TBX4	NM_001321120.2(TBX4):c.1449C>T:p.Val483=	coding	Benign
17	61483390	G	A	G61483390A	TBX4	NM_001321120.2(TBX4):c.1515G>A:p.Lys505=	coding	Benign
17	61483399	G	A	G61483399A	TBX4	NM_001321120.2(TBX4):c.1524G>A:p.Ser508=	coding	Benign
17	61483470	A	G	A61483470G	TBX4	NM_001321120.2(TBX4):c.1595A>G:p.Gln532Arg	coding	Pathogenic
17	61483498	G	A	G61483498A	TBX4	NM_001321120.2(TBX4):c.1623G>A:p.Glu541=	coding	Benign/Likely_benign
17	61483523	C	T	C61483523T	TBX4	NM_001321120.2(TBX4):c.*7C>T	noncoding	Benign
17	61483524	G	A	G61483524A	TBX4	NM_001321120.2(TBX4):c.*8G>A	noncoding	Benign
17	61483541	G	A	G61483541A	TBX4	NM_001321120.2(TBX4):c.*25G>A	noncoding	Benign
17	61483615	T	A	T61483615A	TBX4	NM_001321120.2(TBX4):c.*99T>A	noncoding	Benign
17	61483654	A	G	A61483654G	TBX4	NM_001321120.2(TBX4):c.*138A>G	noncoding	Benign
17	61483843	G	A	G61483843A	TBX4	NM_001321120.2(TBX4):c.*327G>A	noncoding	Benign
17	61484223	G	T	G61484223T	TBX4	NM_001321120.2(TBX4):c.*707G>T	noncoding	Benign
17	61484238	C	A	C61484238A	TBX4	NM_001321120.2(TBX4):c.*722C>A	noncoding	Benign
17	61484275	A	G	A61484275G	TBX4	NM_001321120.2(TBX4):c.*759A>G	noncoding	Benign
17	61484282	A	C	A61484282C	TBX4	NM_001321120.2(TBX4):c.*766A>C	noncoding	Benign
17	61679296	A	G	A61679296G	BRIP1	NM_032043.2(BRIP1):c.*4000T>C	noncoding	Benign
17	61679782	A	C	A61679782C	BRIP1	NM_032043.2(BRIP1):c.*3514T>G	noncoding	Benign
17	61679808	T	A	T61679808A	BRIP1	NM_032043.2(BRIP1):c.*3488A>T	noncoding	Benign
17	61679846	A	G	A61679846G	BRIP1	NM_032043.2(BRIP1):c.*3450T>C	noncoding	Benign
17	61681476	G	A	G61681476A	BRIP1	NM_032043.2(BRIP1):c.*1820C>T	noncoding	Benign
17	61681922	A	G	A61681922G	BRIP1	NM_032043.2(BRIP1):c.*1374T>C	noncoding	Benign
17	61682033	T	C	T61682033C	BRIP1	NM_032043.2(BRIP1):c.*1263A>G	noncoding	Benign
17	61682680	T	C	T61682680C	BRIP1	NM_032043.2(BRIP1):c.*616A>G	noncoding	Benign
17	61682813	G	A	G61682813A	BRIP1	NM_032043.2(BRIP1):c.*483C>T	noncoding	Benign
17	61683635	A	G	A61683635G	BRIP1	NM_032043.3(BRIP1):c.3411T>C:p.Tyr1137=	coding	Benign
17	61683947	A	G	A61683947G	BRIP1	NM_032043.2(BRIP1):c.3099T>C:p.Pro1033=	coding	Benign/Likely_benign
17	61683977	G	A	G61683977A	BRIP1	NM_032043.2(BRIP1):c.3069C>T:p.Leu1023=	coding	Benign/Likely_benign
17	61684109	T	C	T61684109C	BRIP1	NM_032043.2(BRIP1):c.2937A>G:p.Lys979=	coding	Benign/Likely_benign
17	61684123	C	A	C61684123A	BRIP1	NM_032043.3(BRIP1):c.2923G>T:p.Glu975Ter	coding	Pathogenic
17	61685976	A	C	A61685976C	BRIP1	NM_032043.2(BRIP1):c.2765T>G:p.Leu922Ter	coding	Pathogenic/Likely_pathogenic
17	61685976	A	G	A61685976G	BRIP1	NM_032043.3(BRIP1):c.2765T>C:p.Leu922Ser	coding	Benign
17	61685986	A	G	A61685986G	BRIP1	NM_032043.3(BRIP1):c.2755T>C:p.Ser919Pro	coding	Benign
17	61686104	T	C	T61686104C	BRIP1	NM_032043.3(BRIP1):c.2637A>G:p.Glu879=	coding	Benign
17	61686136	G	A	G61686136A	BRIP1	NM_032043.2(BRIP1):c.2605C>T:p.Gln869Ter	coding	Pathogenic
17	61686152	C	T	C61686152T	BRIP1	NM_032043.2(BRIP1):c.2589G>A:p.Trp863Ter	coding	Pathogenic
17	61686166	C	T	C61686166T	BRIP1	NM_032043.2(BRIP1):c.2576-1G>A	coding	Pathogenic/Likely_pathogenic
17	61686173	A	G	A61686173G	BRIP1	NM_032043.2(BRIP1):c.2576-8T>C	noncoding	Benign/Likely_benign
17	61693488	C	T	C61693488T	BRIP1	NM_032043.2(BRIP1):c.2517G>A:p.Trp839Ter	coding	Pathogenic
17	61693513	C	T	C61693513T	BRIP1	NM_032043.2(BRIP1):c.2493-1G>A	coding	Pathogenic/Likely_pathogenic
17	61715964	G	A	G61715964A	BRIP1	NM_032043.2(BRIP1):c.2479C>T:p.Gln827Ter	coding	Pathogenic
17	61715985	G	A	G61715985A	BRIP1	NM_032043.3(BRIP1):c.2458C>T:p.Gln820Ter	coding	Pathogenic
17	61715995	C	T	C61715995T	BRIP1	NM_032043.2(BRIP1):c.2448G>A:p.Trp816Ter	coding	Pathogenic
17	61715996	C	T	C61715996T	BRIP1	NM_032043.2(BRIP1):c.2447G>A:p.Trp816Ter	coding	Pathogenic
17	61716029	G	T	G61716029T	BRIP1	NM_032043.3(BRIP1):c.2414C>A:p.Ser805Ter	coding	Pathogenic
17	61716043	G	A	G61716043A	BRIP1	NM_032043.2(BRIP1):c.2400C>T:p.Tyr800=	coding	Benign/Likely_benign
17	61716043	G	C	G61716043C	BRIP1	NM_032043.2(BRIP1):c.2400C>G:p.Tyr800Ter	coding	Pathogenic
17	61716043	G	T	G61716043T	BRIP1	NM_032043.3(BRIP1):c.2400C>A:p.Tyr800Ter	coding	Pathogenic
17	61743015	G	A	G61743015A	BRIP1	NM_032043.2(BRIP1):c.2377C>T:p.Gln793Ter	coding	Pathogenic/Likely_pathogenic
17	61743082	A	G	A61743082G	BRIP1	NM_032043.2(BRIP1):c.2310T>C:p.Asp770=	coding	Benign/Likely_benign
17	61743106	A	G	A61743106G	BRIP1	NM_032043.2(BRIP1):c.2286T>C:p.Arg762=	coding	Benign/Likely_benign
17	61744413	T	G	T61744413G	BRIP1	NM_032043.2(BRIP1):c.2257+19A>C	noncoding	Benign
17	61744415	A	G	A61744415G	BRIP1	NM_032043.2(BRIP1):c.2257+17T>C	noncoding	Benign/Likely_benign
17	61744445	G	C	G61744445C	BRIP1	NM_032043.2(BRIP1):c.2244C>G:p.Tyr748Ter	coding	Pathogenic/Likely_pathogenic
17	61744453	T	C	T61744453C	BRIP1	NM_032043.2(BRIP1):c.2236A>G:p.Ile746Val	coding	Benign/Likely_benign
17	61744457	G	A	G61744457A	BRIP1	NM_032043.2(BRIP1):c.2232C>T:p.Asp744=	coding	Benign/Likely_benign
17	61744460	A	C	A61744460C	BRIP1	NM_032043.3(BRIP1):c.2229T>G:p.Tyr743Ter	coding	Pathogenic
17	61744471	G	A	G61744471A	BRIP1	NM_032043.2(BRIP1):c.2218C>T:p.Gln740Ter	coding	Pathogenic
17	61744547	C	T	C61744547T	BRIP1	NM_032043.2(BRIP1):c.2142G>A:p.Trp714Ter	coding	Pathogenic
17	61744551	A	C	A61744551C	BRIP1	NM_032043.2(BRIP1):c.2138T>G:p.Leu713Ter	coding	Pathogenic
17	61744578	A	T	A61744578T	BRIP1	NM_032043.2(BRIP1):c.2111T>A:p.Leu704Ter	coding	Pathogenic/Likely_pathogenic
17	61744587	A	C	A61744587C	BRIP1	NM_032043.2(BRIP1):c.2102T>G:p.Leu701Ter	coding	Pathogenic
17	61776393	T	G	T61776393G	BRIP1	NM_032043.2(BRIP1):c.2097+8A>C	noncoding	Benign/Likely_benign
17	61776437	C	G	C61776437G	BRIP1	NM_032043.2(BRIP1):c.2061G>C:p.Val687=	coding	Benign/Likely_benign
17	61776445	G	A	G61776445A	BRIP1	NM_032043.2(BRIP1):c.2053C>T:p.Gln685Ter	coding	Pathogenic/Likely_pathogenic
17	61776505	G	A	G61776505A	BRIP1	NM_032043.2(BRIP1):c.1993C>T:p.Gln665Ter	coding	Pathogenic
17	61776557	C	T	C61776557T	BRIP1	NM_032043.2(BRIP1):c.1941G>A:p.Trp647Ter	coding	Pathogenic/Likely_pathogenic
17	61776558	C	T	C61776558T	BRIP1	NM_032043.2(BRIP1):c.1940G>A:p.Trp647Ter	coding	Pathogenic
17	61780254	A	G	A61780254G	BRIP1	NM_032043.2(BRIP1):c.1935+7T>C	noncoding	Benign/Likely_benign
17	61780306	T	C	T61780306C	BRIP1	NM_032043.2(BRIP1):c.1890A>G:p.Thr630=	coding	Benign/Likely_benign
17	61780325	G	T	G61780325T	BRIP1	NM_032043.2(BRIP1):c.1871C>A:p.Ser624Ter	coding	Pathogenic
17	61780858	C	T	C61780858T	BRIP1	NM_032043.2(BRIP1):c.1776G>A:p.Trp592Ter	coding	Pathogenic/Likely_pathogenic
17	61780893	G	A	G61780893A	BRIP1	NM_032043.2(BRIP1):c.1741C>T:p.Arg581Ter	coding	Pathogenic/Likely_pathogenic
17	61780895	G	C	G61780895C	BRIP1	NM_032043.3(BRIP1):c.1739C>G:p.Ser580Ter	coding	Pathogenic
17	61780940	G	T	G61780940T	BRIP1	NM_032043.3(BRIP1):c.1694C>A:p.Ser565Ter	coding	Pathogenic
17	61780974	G	A	G61780974A	BRIP1	NM_032043.2(BRIP1):c.1660C>T:p.Gln554Ter	coding	Pathogenic
17	61781503	T	A	T61781503A	BRIP1	NM_032043.3(BRIP1):c.1629-498A>T	noncoding	Pathogenic
17	61784272	G	A	G61784272A	BRIP1	NM_032043.2(BRIP1):c.1626C>T:p.Ser542=	coding	Benign/Likely_benign
17	61784280	G	A	G61784280A	BRIP1	NM_032043.2(BRIP1):c.1618C>T:p.Gln540Ter	coding	Pathogenic
17	61784364	C	A	C61784364A	BRIP1	NM_032043.2(BRIP1):c.1534G>T:p.Glu512Ter	coding	Pathogenic
17	61784403	G	A	G61784403A	BRIP1	NM_032043.2(BRIP1):c.1495C>T:p.Gln499Ter	coding	Pathogenic
17	61793637	T	C	T61793637C	BRIP1	NM_032043.2(BRIP1):c.1433A>G:p.His478Arg	coding	Benign/Likely_benign
17	61793656	C	A	C61793656A	BRIP1	NM_032043.2(BRIP1):c.1414G>T:p.Glu472Ter	coding	Pathogenic
17	61793687	A	C	A61793687C	BRIP1	NM_032043.2(BRIP1):c.1383T>G:p.Tyr461Ter	coding	Pathogenic
17	61793687	A	G	A61793687G	BRIP1	NM_032043.2(BRIP1):c.1383T>C:p.Tyr461=	coding	Benign/Likely_benign
17	61793698	C	A	C61793698A	BRIP1	NM_032043.2(BRIP1):c.1372G>T:p.Glu458Ter	coding	Pathogenic
17	61793714	G	A	G61793714A	BRIP1	NM_032043.2(BRIP1):c.1356C>T:p.Asn452=	coding	Benign/Likely_benign
17	61793722	C	A	C61793722A	BRIP1	NM_032043.3(BRIP1):c.1348G>T:p.Glu450Ter	coding	Pathogenic
17	61793727	C	T	C61793727T	BRIP1	NM_032043.2(BRIP1):c.1343G>A:p.Trp448Ter	coding	Pathogenic/Likely_pathogenic
17	61799125	G	A	G61799125A	BRIP1	NM_032043.2(BRIP1):c.1315C>T:p.Arg439Ter	coding	Pathogenic
17	61799146	T	A	T61799146A	BRIP1	NM_032043.2(BRIP1):c.1294A>T:p.Lys432Ter	coding	Pathogenic
17	61799183	C	T	C61799183T	BRIP1	NM_032043.2(BRIP1):c.1257G>A:p.Arg419=	coding	Benign/Likely_benign
17	61799200	G	A	G61799200A	BRIP1	NM_032043.2(BRIP1):c.1240C>T:p.Gln414Ter	coding	Pathogenic/Likely_pathogenic
17	61799278	G	A	G61799278A	BRIP1	NM_032043.2(BRIP1):c.1162C>T:p.Gln388Ter	coding	Pathogenic
17	61799393	C	A	C61799393A	BRIP1	NM_032043.2(BRIP1):c.1141-94G>T	noncoding	Benign
17	61801267	G	A	G61801267A	BRIP1	NM_032043.2(BRIP1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
17	61801324	C	A	C61801324A	BRIP1	NM_032043.3(BRIP1):c.1069G>T:p.Glu357Ter	coding	Pathogenic
17	61801327	G	A	G61801327A	BRIP1	NM_032043.2(BRIP1):c.1066C>T:p.Arg356Ter	coding	Pathogenic
17	61801348	C	G	C61801348G	BRIP1	NM_032043.2(BRIP1):c.1045G>C:p.Ala349Pro	coding	Pathogenic/Likely_pathogenic
17	61801388	C	T	C61801388T	BRIP1	NM_032043.2(BRIP1):c.1005G>A:p.Trp335Ter	coding	Pathogenic
17	61801389	C	T	C61801389T	BRIP1	NM_032043.2(BRIP1):c.1004G>A:p.Trp335Ter	coding	Pathogenic
17	61801408	G	A	G61801408A	BRIP1	NM_032043.3(BRIP1):c.985C>T:p.Gln329Ter	coding	Pathogenic
17	61801454	A	C	A61801454C	BRIP1	NM_032043.2(BRIP1):c.939T>G:p.Tyr313Ter	coding	Pathogenic
17	61808452	A	T	A61808452T	BRIP1	NM_032043.2(BRIP1):c.918+15T>A	noncoding	Benign/Likely_benign
17	61808466	C	T	C61808466T	BRIP1	NM_032043.2(BRIP1):c.918+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	61808499	C	A	C61808499A	BRIP1	NM_032043.2(BRIP1):c.886G>T:p.Glu296Ter	coding	Pathogenic
17	61808533	G	A	G61808533A	BRIP1	NM_032043.2(BRIP1):c.852C>T:p.Val284=	coding	Benign/Likely_benign
17	61808581	A	C	A61808581C	BRIP1	NM_032043.2(BRIP1):c.804T>G:p.Tyr268Ter	coding	Pathogenic
17	61808613	G	A	G61808613A	BRIP1	NM_032043.3(BRIP1):c.772C>T:p.Gln258Ter	coding	Pathogenic
17	61808620	C	A	C61808620A	BRIP1	NM_032043.3(BRIP1):c.765G>T:p.Gln255His	coding	Pathogenic
17	61808622	G	A	G61808622A	BRIP1	NM_032043.3(BRIP1):c.763C>T:p.Gln255Ter	coding	Pathogenic
17	61808683	C	T	C61808683T	BRIP1	NM_032043.2(BRIP1):c.702G>A:p.Lys234=	coding	Benign/Likely_benign
17	61808706	G	A	G61808706A	BRIP1	NM_032043.3(BRIP1):c.679C>T:p.Gln227Ter	coding	Pathogenic
17	61808718	G	A	G61808718A	BRIP1	NM_032043.2(BRIP1):c.667C>T:p.Gln223Ter	coding	Pathogenic
17	61808721	T	A	T61808721A	BRIP1	NM_032043.3(BRIP1):c.664A>T:p.Lys222Ter	coding	Pathogenic
17	61847100	C	T	C61847100T	BRIP1	NM_032043.2(BRIP1):c.627+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	61847110	C	T	C61847110T	BRIP1	NM_032043.2(BRIP1):c.618G>A:p.Ser206=	coding	Benign/Likely_benign
17	61847144	A	G	A61847144G	BRIP1	NM_032043.2(BRIP1):c.584T>C:p.Leu195Pro	coding	Benign/Likely_benign
17	61847151	C	T	C61847151T	BRIP1	NM_032043.2(BRIP1):c.577G>A:p.Val193Ile	coding	Benign/Likely_benign
17	61847193	C	A	C61847193A	BRIP1	NM_032043.2(BRIP1):c.535G>T:p.Glu179Ter	coding	Pathogenic
17	61847214	T	A	T61847214A	BRIP1	NM_032043.2(BRIP1):c.514A>T:p.Lys172Ter	coding	Pathogenic
17	61847251	G	C	G61847251C	BRIP1	NM_032043.2(BRIP1):c.508-31C>G	noncoding	Benign
17	61849152	G	A	G61849152A	BRIP1	NM_032043.2(BRIP1):c.484C>T:p.Arg162Ter	coding	Pathogenic/Likely_pathogenic
17	61849173	G	A	G61849173A	BRIP1	NM_032043.2(BRIP1):c.463C>T:p.Gln155Ter	coding	Pathogenic
17	61849188	C	A	C61849188A	BRIP1	NM_032043.2(BRIP1):c.448G>T:p.Glu150Ter	coding	Pathogenic
17	61849195	G	C	G61849195C	BRIP1	NM_032043.2(BRIP1):c.441C>G:p.Tyr147Ter	coding	Pathogenic
17	61849206	C	T	C61849206T	BRIP1	NM_032043.2(BRIP1):c.430G>A:p.Ala144Thr	coding	Benign
17	61849273	A	T	A61849273T	BRIP1	NM_032043.2(BRIP1):c.380-17T>A	noncoding	Benign/Likely_benign
17	61857088	C	A	C61857088A	BRIP1	NM_032043.2(BRIP1):c.349G>T:p.Glu117Ter	coding	Pathogenic
17	61857123	G	C	G61857123C	BRIP1	NM_032043.2(BRIP1):c.314C>G:p.Ser105Ter	coding	Pathogenic
17	61857140	G	A	G61857140A	BRIP1	NM_032043.2(BRIP1):c.297C>T:p.Asp99=	coding	Benign/Likely_benign
17	61857162	G	C	G61857162C	BRIP1	NM_032043.3(BRIP1):c.275C>G:p.Ser92Ter	coding	Pathogenic
17	61857167	G	T	G61857167T	BRIP1	NM_032043.2(BRIP1):c.270C>A:p.Cys90Ter	coding	Pathogenic
17	61857233	T	C	T61857233C	BRIP1	NM_032043.2(BRIP1):c.206-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	61857252	A	G	A61857252G	BRIP1	NM_032043.2(BRIP1):c.206-21T>C	noncoding	Benign/Likely_benign
17	61859791	C	A	C61859791A	BRIP1	NM_032043.3(BRIP1):c.205+5G>T	noncoding	Pathogenic
17	61859806	T	C	T61859806C	BRIP1	NM_032043.2(BRIP1):c.195A>G:p.Gln65=	coding	Benign/Likely_benign
17	61859808	G	A	G61859808A	BRIP1	NM_032043.2(BRIP1):c.193C>T:p.Gln65Ter	coding	Pathogenic/Likely_pathogenic
17	61859812	C	T	C61859812T	BRIP1	NM_032043.3(BRIP1):c.189G>A:p.Trp63Ter	coding	Pathogenic
17	61859813	C	T	C61859813T	BRIP1	NM_032043.3(BRIP1):c.188G>A:p.Trp63Ter	coding	Pathogenic
17	61859840	A	C	A61859840C	BRIP1	NM_032043.3(BRIP1):c.161T>G:p.Leu54Ter	coding	Pathogenic
17	61859868	C	A	C61859868A	BRIP1	NM_032043.2(BRIP1):c.133G>T:p.Glu45Ter	coding	Pathogenic
17	61859898	C	A	C61859898A	BRIP1	NM_032043.2(BRIP1):c.103G>T:p.Gly35Ter	coding	Pathogenic
17	61859925	A	C	A61859925C	BRIP1	NM_032043.2(BRIP1):c.94-18T>G	noncoding	Benign
17	61861467	G	A	G61861467A	BRIP1	NM_032043.3(BRIP1):c.73C>T:p.Gln25Ter	coding	Pathogenic
17	61861474	G	C	G61861474C	BRIP1	NM_032043.3(BRIP1):c.66C>G:p.Tyr22Ter	coding	Pathogenic
17	61861474	G	T	G61861474T	BRIP1	NM_032043.3(BRIP1):c.66C>A:p.Tyr22Ter	coding	Pathogenic
17	61861500	T	A	T61861500A	BRIP1	NM_032043.2(BRIP1):c.40A>T:p.Lys14Ter	coding	Pathogenic/Likely_pathogenic
17	61861516	A	C	A61861516C	BRIP1	NM_032043.3(BRIP1):c.24T>G:p.Tyr8Ter	coding	Pathogenic
17	61861516	A	T	A61861516T	BRIP1	NM_032043.2(BRIP1):c.24T>A:p.Tyr8Ter	coding	Pathogenic
17	61861640	G	A	G61861640A	BRIP1	NM_032043.2(BRIP1):c.-30-71C>T	noncoding	Benign
17	61861657	G	A	G61861657A	BRIP1	NM_032043.2(BRIP1):c.-30-88C>T	noncoding	Benign
17	61863272	C	T	C61863272T	BRIP1	NM_032043.2(BRIP1):c.-31+12G>A	noncoding	Benign
17	61863291	G	C	G61863291C	BRIP1	NM_032043.2(BRIP1):c.-38C>G	noncoding	Benign
17	61863450	G	T	G61863450T	BRIP1	NM_032043.2(BRIP1):c.-197C>A	noncoding	Benign/Likely_benign
17	61863458	C	T	C61863458T	BRIP1	NM_032043.2(BRIP1):c.-205G>A	noncoding	Benign
17	61874956	T	A	T61874956A	INTS2	NM_001351695.2(INTS2):c.2539A>T:p.Ile847Leu	coding	Benign
17	61946608	G	C	G61946608C	MED13	NM_005121.3(MED13):c.6393-8C>G	noncoding	Benign
17	61952972	G	A	G61952972A	MED13	NM_005121.3(MED13):c.6110C>T:p.Ala2037Val	coding	Benign
17	61953049	G	A	G61953049A	MED13	NM_005121.3(MED13):c.6033C>T:p.Ile2011=	coding	Benign
17	61953114	C	T	C61953114T	MED13	NM_005121.3(MED13):c.5969-1G>A	coding	Pathogenic
17	61955422	A	G	A61955422G	MED13	NM_005121.3(MED13):c.5928T>C:p.Tyr1976=	coding	Benign
17	61955530	C	T	C61955530T	MED13	NM_005121.3(MED13):c.5820G>A:p.Thr1940=	coding	Benign
17	61955835	C	T	C61955835T	MED13	NM_005121.3(MED13):c.5627G>A:p.Trp1876Ter	coding	Pathogenic
17	61961088	T	C	T61961088C	MED13	NM_005121.3(MED13):c.5259A>G:p.Arg1753=	coding	Benign
17	61961683	G	A	G61961683A	MED13	NM_005121.3(MED13):c.5161C>T:p.Gln1721Ter	coding	Pathogenic
17	61962872	T	A	T61962872A	MED13	NM_005121.3(MED13):c.4944A>T:p.Thr1648=	coding	Benign
17	61962914	C	T	C61962914T	MED13	NM_005121.3(MED13):c.4902G>A:p.Thr1634=	coding	Benign
17	61965027	G	A	G61965027A	MED13	NM_005121.3(MED13):c.4823C>T:p.Pro1608Leu	coding	Benign
17	61965074	T	C	T61965074C	MED13	NM_005121.3(MED13):c.4776A>G:p.Leu1592=	coding	Benign
17	61965208	T	C	T61965208C	MED13	NM_005121.3(MED13):c.4642A>G:p.Ser1548Gly	coding	Benign
17	61965407	G	A	G61965407A	MED13	NM_005121.3(MED13):c.4443C>T:p.Ala1481=	coding	Benign
17	61966645	G	A	G61966645A	MED13	NM_005121.3(MED13):c.4198C>T:p.Arg1400Ter	coding	Pathogenic
17	61972868	G	A	G61972868A	MED13	NM_005121.3(MED13):c.3826C>T:p.Gln1276Ter	coding	Pathogenic
17	62010653	T	A	T62010653A	MED13	NM_005121.3(MED13):c.1864A>T:p.Lys622Ter	coding	Pathogenic
17	62010750	T	C	T62010750C	MED13	NM_005121.3(MED13):c.1767A>G:p.Gln589=	coding	Benign
17	62010772	A	T	A62010772T	MED13	NM_005121.3(MED13):c.1745T>A:p.Leu582Ter	coding	Pathogenic
17	62011188	T	C	T62011188C	MED13	NM_005121.3(MED13):c.1329A>G:p.Ala443=	coding	Benign
17	62029621	T	C	T62029621C	MED13	NM_005121.3(MED13):c.1203A>G:p.Leu401=	coding	Benign
17	62031476	G	A	G62031476A	MED13	NM_005121.3(MED13):c.977C>T:p.Thr326Ile	coding	Pathogenic
17	62033864	A	C	A62033864C	MED13	NM_005121.3(MED13):c.737T>G:p.Leu246Trp	coding	Benign
17	62052710	A	G	A62052710G	MED13	NM_005121.3(MED13):c.302-5T>C	noncoding	Benign
17	62063085	T	C	T62063085C	MED13	NM_005121.3(MED13):c.283A>G:p.Ile95Val	coding	Benign
17	62063099	C	T	C62063099T	MED13	NM_005121.3(MED13):c.269G>A:p.Ser90Asn	coding	Benign
17	62370328	G	T	G62370328T	EFCAB3	NM_001144933.1(EFCAB3):c.34+6G>T	noncoding	Benign
17	62373824	G	C	G62373824C	EFCAB3	NM_001144933.1(EFCAB3):c.45G>C:p.Lys15Asn	coding	Benign
17	62391965	C	T	C62391965T	EFCAB3	NM_173503.4(EFCAB3):c.295C>T:p.Arg99Ter	coding	Benign
17	62395190	T	C	T62395190C	EFCAB3	NM_173503.4(EFCAB3):c.488+2T>C	noncoding	Benign
17	62416121	C	T	C62416121T	EFCAB3	NM_173503.4(EFCAB3):c.1109C>T:p.Ser370Phe	coding	Benign
17	62481162	C	T	C62481162T	TLK2	NM_001330418.2(TLK2):c.-461C>T	coding	Pathogenic
17	62522231	C	T	C62522231T	TLK2	NM_001330418.2(TLK2):c.-171C>T	coding	Pathogenic
17	62522252	G	T	G62522252T	TLK2	NM_001330418.2(TLK2):c.-150G>T	coding	Pathogenic
17	62536170	C	T	C62536170T	TLK2	NM_006852.4(TLK2):c.364C>T:p.Arg122Ter	coding	Pathogenic
17	62536173	C	T	C62536173T	TLK2	NM_006852.6(TLK2):c.367C>T:p.Arg123Ter	coding	Pathogenic
17	62560072	C	A	C62560072A	TLK2	NM_001284333.2(TLK2):c.777C>A:p.Tyr259Ter	coding	Pathogenic/Likely_pathogenic
17	62560079	C	T	C62560079T	TLK2	NM_006852.4(TLK2):c.784C>T:p.Arg262Ter	coding	Pathogenic
17	62565076	C	T	C62565076T	TLK2	NM_006852.4(TLK2):c.907C>T:p.Arg303Ter	coding	Pathogenic
17	62565138	G	A	G62565138A	TLK2	NM_006852.6(TLK2):c.968+1G>A	coding	Pathogenic/Likely_pathogenic
17	62565138	G	C	G62565138C	TLK2	NM_006852.6(TLK2):c.968+1G>C	coding	Pathogenic
17	62565139	T	G	T62565139G	TLK2	NM_006852.6(TLK2):c.968+2T>G	noncoding	Pathogenic
17	62573235	C	A	C62573235A	TLK2	NM_006852.4(TLK2):c.989C>A:p.Ser330Ter	coding	Pathogenic
17	62586196	G	A	G62586196A	TLK2	NM_006852.6(TLK2):c.1430G>A:p.Trp477Ter	coding	Pathogenic
17	62586228	T	G	T62586228G	TLK2	NM_006852.4(TLK2):c.1460+2T>G	noncoding	Pathogenic
17	62600751	C	T	C62600751T	TLK2	NM_006852.4(TLK2):c.1651C>T:p.Gln551Ter	coding	Pathogenic
17	62600821	G	T	G62600821T	TLK2	NM_006852.4(TLK2):c.1720+1G>T	coding	Pathogenic
17	62606180	C	G	C62606180G	TLK2	NM_006852.4(TLK2):c.1910C>G:p.Ser637Ter	coding	Pathogenic
17	62606198	G	A	G62606198A	TLK2	NM_006852.4(TLK2):c.1928G>A:p.Trp643Ter	coding	Pathogenic
17	62612401	C	T	C62612401T	TLK2	NM_006852.4(TLK2):c.2089C>T:p.Arg697Ter	coding	Pathogenic/Likely_pathogenic
17	62612419	C	T	C62612419T	TLK2	NM_006852.4(TLK2):c.2107C>T:p.Arg703Ter	coding	Pathogenic
17	62664893	G	C	G62664893C	MRC2	NM_006039.5(MRC2):c.464G>C:p.Ser155Thr	coding	Benign
17	62680460	A	G	A62680460G	MRC2	NM_006039.5(MRC2):c.2473+7A>G	noncoding	Benign
17	62692302	G	A	G62692302A	MRC2	NM_006039.5(MRC2):c.4291G>A:p.Ala1431Thr	coding	Benign
17	63200782	C	T	C63200782T	TANC2	NM_025185.4(TANC2):c.372C>T:p.Ile124=	coding	Benign
17	63200868	T	G	T63200868G	TANC2	NM_025185.4(TANC2):c.458T>G:p.Ile153Ser	coding	Benign
17	63200958	G	A	G63200958A	TANC2	NM_025185.4(TANC2):c.547+1G>A	coding	Pathogenic/Likely_pathogenic
17	63237848	C	T	C63237848T	TANC2	NM_025185.4(TANC2):c.582C>T:p.Arg194=	coding	Benign
17	63267742	T	C	T63267742C	TANC2	NM_025185.4(TANC2):c.812-6T>C	noncoding	Benign
17	63314670	G	A	G63314670A	TANC2	NM_025185.4(TANC2):c.1219+1G>A	coding	Pathogenic/Likely_pathogenic
17	63319087	G	A	G63319087A	TANC2	NM_025185.4(TANC2):c.1350G>A:p.Ser450=	coding	Benign
17	63355398	A	G	A63355398G	TANC2	NM_025185.4(TANC2):c.2360+8A>G	noncoding	Benign
17	63405208	C	T	C63405208T	TANC2	NM_025185.4(TANC2):c.3196C>T:p.Arg1066Ter	coding	Pathogenic/Likely_pathogenic
17	63411540	G	T	G63411540T	TANC2	NM_025185.4(TANC2):c.3397G>T:p.Gly1133Ter	coding	Pathogenic
17	63413592	C	T	C63413592T	TANC2	NM_025185.4(TANC2):c.3726C>T:p.Ile1242=	coding	Benign
17	63420429	C	T	C63420429T	TANC2	NM_025185.4(TANC2):c.4447C>T:p.Gln1483Ter	coding	Pathogenic/Likely_pathogenic
17	63436093	C	T	C63436093T	CYB561	NM_001915.4(CYB561):c.262G>A:p.Gly88Arg	coding	Pathogenic
17	63437417	C	T	C63437417T	CYB561	NM_001915.4(CYB561):c.131G>A:p.Trp44Ter	coding	Pathogenic
17	63477099	G	T	G63477099T	ACE	NM_000789.4(ACE):c.5G>T:p.Gly2Val	coding	Benign
17	63477325	G	A	G63477325A	ACE	NM_000789.4(ACE):c.231G>A:p.Ala77=	coding	Benign
17	63478093	C	T	C63478093T	ACE	NM_000789.4(ACE):c.412C>T:p.Gln138Ter	coding	Pathogenic
17	63478106	G	A	G63478106A	ACE	NM_000789.4(ACE):c.417+8G>A	noncoding	Benign
17	63479049	G	A	G63479049A	ACE	NM_000789.4(ACE):c.460G>A:p.Ala154Thr	coding	Benign
17	63479068	A	G	A63479068G	ACE	NM_000789.4(ACE):c.479A>G:p.Asn160Ser	coding	Benign
17	63479839	C	T	C63479839T	ACE	NM_000789.4(ACE):c.582C>T:p.Asn194=	coding	Benign
17	63479925	C	T	C63479925T	ACE	NM_000789.4(ACE):c.655+13C>T	noncoding	Benign
17	63480328	C	T	C63480328T	ACE	NM_000789.4(ACE):c.656-9C>T	noncoding	Benign
17	63480412	A	G	A63480412G	ACE	NM_000789.4(ACE):c.731A>G:p.Tyr244Cys	coding	Benign
17	63480461	C	T	C63480461T	ACE	NM_000789.4(ACE):c.780C>T:p.Arg260=	coding	Benign
17	63480462	G	T	G63480462T	ACE	NM_000789.4(ACE):c.781G>T:p.Ala261Ser	coding	Benign
17	63480479	C	G	C63480479G	ACE	NM_000789.4(ACE):c.798C>G:p.Tyr266Ter	coding	Pathogenic
17	63480540	G	A	G63480540A	ACE	NM_000789.4(ACE):c.847+12G>A	noncoding	Benign
17	63481590	C	T	C63481590T	ACE	NM_000789.4(ACE):c.970C>T:p.Arg324Trp	coding	Benign
17	63481595	G	T	G63481595T	ACE	NM_000789.4(ACE):c.975G>T:p.Val325=	coding	Benign
17	63481658	G	C	G63481658C	ACE	NM_000789.4(ACE):c.1038G>C:p.Ser346=	coding	Benign/Likely_benign
17	63481680	G	A	G63481680A	ACE	NM_000789.4(ACE):c.1060G>A:p.Gly354Arg	coding	Benign
17	63482458	C	T	C63482458T	ACE	NM_000789.4(ACE):c.1119-8C>T	noncoding	Benign
17	63482562	C	T	C63482562T	ACE	NM_000789.4(ACE):c.1215C>T:p.Pro405=	coding	Benign
17	63482672	G	A	G63482672A	ACE	NM_000789.4(ACE):c.1325G>A:p.Arg442His	coding	Benign
17	63482688	G	C	G63482688C	ACE	NM_000789.4(ACE):c.1341G>C:p.Thr447=	coding	Benign
17	63483172	C	T	C63483172T	ACE	NM_000789.4(ACE):c.1486C>T:p.Arg496Ter	coding	Pathogenic
17	63483943	C	T	C63483943T	ACE	NM_000789.4(ACE):c.1681C>T:p.Arg561Trp	coding	Benign
17	63484395	A	G	A63484395G	ACE	NM_000789.4(ACE):c.1775A>G:p.Asp592Gly	coding	Benign/Likely_benign
17	63486685	G	T	G63486685T	ACE	NM_000789.4(ACE):c.2187G>T:p.Arg729=	coding	Benign
17	63486691	A	G	A63486691G	ACE	NM_000789.4(ACE):c.2193A>G:p.Ala731=	coding	Benign
17	63488629	G	C	G63488629C	ACE	NM_000789.4(ACE):c.2306-19G>C	noncoding	Benign
17	63488637	A	C	A63488637C	ACE	NM_000789.4(ACE):c.2306-11A>C	noncoding	Benign
17	63488670	G	A	G63488670A	ACE	NM_000789.4(ACE):c.2328G>A:p.Thr776=	coding	Benign
17	63488713	C	T	C63488713T	ACE	NM_000789.4(ACE):c.2371C>T:p.Arg791Ter	coding	Pathogenic
17	63488724	G	A	G63488724A	ACE	NM_000789.4(ACE):c.2382G>A:p.Ala794=	coding	Benign
17	63489009	C	A	C63489009A	ACE	NM_000789.4(ACE):c.2518C>A:p.Arg840=	coding	Benign
17	63489041	C	G	C63489041G	ACE	NM_000789.4(ACE):c.2550C>G:p.Leu850=	coding	Benign
17	63491216	C	T	C63491216T	ACE	NM_000789.4(ACE):c.2747C>T:p.Thr916Met	coding	Benign/Likely_benign
17	63491256	C	T	C63491256T	ACE	NM_000789.4(ACE):c.2787C>T:p.Thr929=	coding	Benign
17	63491260	C	T	C63491260T	ACE	NM_000789.4(ACE):c.2791C>T:p.Leu931=	coding	Benign
17	63493475	G	A	G63493475A	ACE	NM_000789.4(ACE):c.2952G>A:p.Val984=	coding	Benign/Likely_benign
17	63494475	C	T	C63494475T	ACE	NM_000789.4(ACE):c.3380+5C>T	noncoding	Benign
17	63496400	T	C	T63496400C	ACE	NM_000789.4(ACE):c.3387T>C:p.Phe1129=	coding	Benign
17	63496854	C	T	C63496854T	ACE	NM_000789.4(ACE):c.3560C>T:p.Thr1187Met	coding	Benign/Likely_benign
17	63496977	C	T	C63496977T	ACE	NM_000789.4(ACE):c.3683C>T:p.Pro1228Leu	coding	Pathogenic
17	63496990	C	T	C63496990T	ACE	NM_000789.4(ACE):c.3691+5C>T	noncoding	Benign
17	63497131	G	A	G63497131A	ACE	NM_000789.4(ACE):c.3692-6G>A	noncoding	Benign
17	63497246	C	T	C63497246T	ACE	NM_000789.4(ACE):c.3801C>T:p.Ile1267=	coding	Benign/Likely_benign
17	63497281	G	A	G63497281A	ACE	NM_000789.4(ACE):c.3836G>A:p.Arg1279Gln	coding	Benign/Likely_benign
17	63497301	C	A	C63497301A	ACE	NM_000789.4(ACE):c.3856C>A:p.Arg1286Ser	coding	Benign
17	63497351	G	A	G63497351A	ACE	NM_000789.4(ACE):c.3906G>A:p.Glu1302=	coding	Benign
17	63497871	C	G	C63497871G	ACE	NM_000789.4(ACE):c.*505C>G	noncoding	Benign
17	63497952	C	A	C63497952A	ACE	NM_000789.4(ACE):c.*586C>A	noncoding	Benign
17	63498075	G	A	G63498075A	ACE	NM_000789.4(ACE):c.*709G>A	noncoding	Benign
17	63498260	G	A	G63498260A	ACE	NM_000789.4(ACE):c.*894G>A	noncoding	Benign
17	63498276	A	G	A63498276G	ACE	NM_000789.4(ACE):c.*910A>G	noncoding	Benign
17	63524152	G	T	G63524152T	KCNH6	NM_001278919.2(KCNH6):c.90G>T:p.Leu30=	coding	Benign
17	63550698	G	A	G63550698A	DCAF7	NM_005828.5(DCAF7):c.21G>A:p.Arg7=	coding	Benign
17	63578577	C	T	C63578577T	DCAF7	NM_005828.5(DCAF7):c.246C>T:p.Gly82=	coding	Benign
17	63579922	G	A	G63579922A	DCAF7	NM_005828.5(DCAF7):c.507G>A:p.Gln169=	coding	Benign
17	63604357	C	T	C63604357T	TACO1	NM_016360.4(TACO1):c.281-177C>T	noncoding	Benign
17	63604489	A	C	A63604489C	TACO1	NM_016360.4(TACO1):c.281-45A>C	noncoding	Benign
17	63606346	C	T	C63606346T	TACO1	NM_016360.4(TACO1):c.421C>T:p.Arg141Ter	coding	Pathogenic
17	63606358	G	A	G63606358A	TACO1	NM_016360.4(TACO1):c.433G>A:p.Gly145Ser	coding	Benign
17	63607155	A	G	A63607155G	TACO1	NM_016360.4(TACO1):c.516-132A>G	noncoding	Benign
17	63607197	A	G	A63607197G	TACO1	NM_016360.4(TACO1):c.516-90A>G	noncoding	Benign
17	63607269	T	A	T63607269A	TACO1	NM_016360.4(TACO1):c.516-18T>A	noncoding	Benign
17	63607524	T	C	T63607524C	TACO1	NM_016360.4(TACO1):c.693+60T>C	noncoding	Benign
17	63608021	C	T	C63608021T	TACO1	NM_016360.4(TACO1):c.*19C>T	noncoding	Benign
17	63688851	G	A	G63688851A	MAP3K3	NM_002401.5(MAP3K3):c.841G>A:p.Val281Met	coding	Benign
17	63689605	C	T	C63689605T	MAP3K3	NM_002401.5(MAP3K3):c.933C>T:p.Ser311=	coding	Benign
17	63692327	G	A	G63692327A	MAP3K3	NM_002401.5(MAP3K3):c.1560G>A:p.Ser520=	coding	Benign
17	63693594	G	A	G63693594A	MAP3K3	NM_002401.5(MAP3K3):c.1698G>A:p.Pro566=	coding	Benign
17	63704405	G	A	G63704405A	STRADA	NM_001003787.4(STRADA):c.1036C>T:p.Arg346Ter	coding	Pathogenic
17	63707262	G	A	G63707262A	STRADA	NM_001003787.4(STRADA):c.738C>T:p.Pro246=	coding	Benign
17	63707318	G	A	G63707318A	STRADA	NM_001003787.4(STRADA):c.682C>T:p.Arg228Ter	coding	Pathogenic
17	63710564	G	C	G63710564C	STRADA	NM_001003787.4(STRADA):c.508C>G:p.Leu170Val	coding	Benign
17	63710782	C	T	C63710782T	STRADA	NM_001003787.4(STRADA):c.403G>A:p.Ala135Thr	coding	Pathogenic
17	63714042	G	A	G63714042A	STRADA	NM_001003787.4(STRADA):c.190C>T:p.Pro64Ser	coding	Pathogenic
17	63714053	C	A	C63714053A	STRADA	NM_001003787.4(STRADA):c.179G>T:p.Ser60Ile	coding	Pathogenic
17	63714092	G	C	G63714092C	STRADA	NM_001003787.4(STRADA):c.140C>G:p.Ser47Ter	coding	Pathogenic
17	63728342	G	A	G63728342A	STRADA	NM_001003787.4(STRADA):c.28C>T:p.Arg10Ter	coding	Pathogenic
17	63728387	G	A	G63728387A	STRADA	NM_001003787.4(STRADA):c.-18C>T	noncoding	Benign
17	63752334	G	A	G63752334A	CCDC47	NM_020198.3(CCDC47):c.1189C>T:p.Arg397Ter	coding	Pathogenic/Likely_pathogenic
17	63752432	G	A	G63752432A	CCDC47	NM_020198.3(CCDC47):c.1094-3C>T	noncoding	Benign
17	63830911	C	T	C63830911T	PSMC5	NM_002805.6(PSMC5):c.655C>T:p.Leu219=	coding	Benign
17	63832989	C	T	C63832989T	SMARCD2	NM_001098426.2(SMARCD2):c.1545G>A:p.Val515=	coding	Benign
17	63833154	A	G	A63833154G	SMARCD2	NM_001098426.2(SMARCD2):c.1457T>C:p.Ile486Thr	coding	Benign
17	63833908	C	T	C63833908T	SMARCD2	NM_001098426.2(SMARCD2):c.1181+1G>A	noncoding	Pathogenic
17	63837439	A	G	A63837439G	SMARCD2	NM_001098426.2(SMARCD2):c.401+2T>C	noncoding	Pathogenic
17	63872128	A	G	A63872128G	CSH2	NM_020991.3(CSH2):c.652T>C:p.Ter218Gln	coding	Benign
17	63910248	T	C	T63910248C	CSHL1	NM_022579.3(CSHL1):c.385A>G:p.Thr129Ala	coding	Benign
17	63910252	G	C	G63910252C	CSHL1	NM_022579.3(CSHL1):c.381C>G:p.Thr127=	coding	Benign
17	63910253	G	A	G63910253A	CSHL1	NM_022579.3(CSHL1):c.380C>T:p.Thr127Ile	coding	Benign
17	63917337	C	T	C63917337T	GH1	NM_000515.5(GH1):c.626G>A:p.Arg209His	coding	Pathogenic
17	63917742	C	A	C63917742A	GH1	NM_000515.5(GH1):c.456+18G>T	noncoding	Benign
17	63917755	C	G	C63917755G	GH1	NM_000515.5(GH1):c.456+5G>C	noncoding	Pathogenic
17	63917759	C	A	C63917759A	GH1	NM_000515.5(GH1):c.456+1G>T	noncoding	Pathogenic
17	63917759	C	G	C63917759G	GH1	NM_000515.5(GH1):c.456+1G>C	noncoding	Pathogenic
17	63917769	C	T	C63917769T	GH1	NM_000515.5(GH1):c.447G>A:p.Thr149=	coding	Benign/Likely_benign
17	63917803	T	C	T63917803C	GH1	NM_000515.5(GH1):c.413A>G:p.Asp138Gly	coding	Pathogenic
17	63917853	A	T	A63917853T	GH1	NM_000515.5(GH1):c.363T>A:p.Ser121Arg	coding	Benign/Likely_benign
17	63917909	G	A	G63917909A	GH1	NM_000515.5(GH1):c.307C>T:p.Arg103Cys	coding	Pathogenic
17	63917989	C	T	C63917989T	GH1	NM_000515.5(GH1):c.291+28G>A	noncoding	Pathogenic
17	63918011	A	C	A63918011C	GH1	NM_000515.5(GH1):c.291+6T>G	noncoding	Pathogenic
17	63918011	A	G	A63918011G	GH1	NM_000515.5(GH1):c.291+6T>C	noncoding	Pathogenic
17	63918012	C	T	C63918012T	GH1	NM_000515.5(GH1):c.291+5G>A	noncoding	Pathogenic
17	63918015	A	G	A63918015G	GH1	NM_000515.5(GH1):c.291+2T>C	noncoding	Pathogenic
17	63918016	C	G	C63918016G	GH1	NM_000515.5(GH1):c.291+1G>C	noncoding	Pathogenic
17	63918016	C	T	C63918016T	GH1	NM_000515.5(GH1):c.291+1G>A	noncoding	Pathogenic
17	63918072	C	G	C63918072G	GH1	NM_000515.5(GH1):c.236G>C:p.Cys79Ser	coding	Pathogenic
17	63918138	T	A	T63918138A	GH1	NM_000515.5(GH1):c.172-2A>T	noncoding	Pathogenic
17	63918365	A	T	A63918365T	GH1	NM_000515.5(GH1):c.152T>A:p.Phe51Tyr	coding	Benign/Likely_benign
17	63918401	G	A	G63918401A	GH1	NM_000515.5(GH1):c.116C>T:p.Ala39Val	coding	Benign/Likely_benign
17	63918458	C	T	C63918458T	GH1	NM_000515.5(GH1):c.59G>A:p.Trp20Ter	coding	Pathogenic
17	63918770	T	C	T63918770C	GH1	NM_000515.5(GH1):c.7A>G:p.Thr3Ala	coding	Benign/Likely_benign
17	63918780	A	C	A63918780C	GH1	NM_000515.5(GH1):c.-4T>G	noncoding	Benign/Likely_benign
17	63918814	T	G	T63918814G	GH1	NM_000515.5(GH1):c.-38A>C	noncoding	Benign
17	63918836	C	G	C63918836G	GH1	NM_000515.5(GH1):c.-60G>C	noncoding	Benign
17	63930095	C	T	C63930095T	CD79B	NM_000626.4(CD79B):c.409G>A:p.Gly137Ser	coding	Pathogenic
17	63930138	A	G	A63930138G	CD79B	NM_000626.4(CD79B):c.366T>C:p.Cys122=	coding	Benign
17	63930192	G	A	G63930192A	CD79B	NM_000626.4(CD79B):c.312C>T:p.Leu104=	coding	Benign
17	63930266	G	A	G63930266A	CD79B	NM_000626.4(CD79B):c.238C>T:p.Gln80Ter	coding	Pathogenic
17	63931351	C	G	C63931351G	CD79B	NM_000626.4(CD79B):c.102G>C:p.Arg34=	coding	Benign
17	63938782	G	A	G63938782A	SCN4A	NM_000334.4(SCN4A):c.*1989C>T	noncoding	Benign
17	63938943	T	C	T63938943C	SCN4A	NM_000334.4(SCN4A):c.*1828A>G	noncoding	Benign/Likely_benign
17	63939034	T	C	T63939034C	SCN4A	NM_000334.4(SCN4A):c.*1737A>G	noncoding	Benign
17	63939160	T	C	T63939160C	SCN4A	NM_000334.4(SCN4A):c.*1611A>G	noncoding	Benign
17	63939344	A	G	A63939344G	SCN4A	NM_000334.4(SCN4A):c.*1427T>C	noncoding	Benign
17	63939403	C	G	C63939403G	SCN4A	NM_000334.4(SCN4A):c.*1368G>C	noncoding	Benign
17	63939414	T	C	T63939414C	SCN4A	NM_000334.4(SCN4A):c.*1357A>G	noncoding	Benign
17	63939500	A	T	A63939500T	SCN4A	NM_000334.4(SCN4A):c.*1271T>A	noncoding	Benign
17	63939556	C	T	C63939556T	SCN4A	NM_000334.4(SCN4A):c.*1215G>A	noncoding	Benign
17	63939683	T	C	T63939683C	SCN4A	NM_000334.4(SCN4A):c.*1088A>G	noncoding	Benign
17	63939790	C	T	C63939790T	SCN4A	NM_000334.4(SCN4A):c.*981G>A	noncoding	Benign
17	63940061	A	G	A63940061G	SCN4A	NM_000334.4(SCN4A):c.*710T>C	noncoding	Benign
17	63940208	C	T	C63940208T	SCN4A	NM_000334.4(SCN4A):c.*563G>A	noncoding	Benign
17	63940439	G	A	G63940439A	SCN4A	NM_000334.4(SCN4A):c.*332C>T	noncoding	Benign
17	63940649	C	T	C63940649T	SCN4A	NM_000334.4(SCN4A):c.*122G>A	noncoding	Benign
17	63940749	T	C	T63940749C	SCN4A	NM_000334.4(SCN4A):c.*22A>G	noncoding	Benign
17	63940783	C	T	C63940783T	SCN4A	NM_000334.4(SCN4A):c.5499G>A:p.Glu1833=	coding	Benign
17	63940804	A	C	A63940804C	SCN4A	NM_000334.4(SCN4A):c.5478T>G:p.Thr1826=	coding	Benign
17	63940879	G	A	G63940879A	SCN4A	NM_000334.4(SCN4A):c.5403C>T:p.Ala1801=	coding	Benign
17	63940990	G	A	G63940990A	SCN4A	NM_000334.4(SCN4A):c.5292C>T:p.Asp1764=	coding	Benign
17	63941091	C	T	C63941091T	SCN4A	NM_000334.4(SCN4A):c.5191G>A:p.Ala1731Thr	coding	Benign/Likely_benign
17	63941092	G	A	G63941092A	SCN4A	NM_000334.4(SCN4A):c.5190C>T:p.Cys1730=	coding	Benign/Likely_benign
17	63941332	C	T	C63941332T	SCN4A	NM_000334.4(SCN4A):c.4950G>A:p.Pro1650=	coding	Benign
17	63941377	G	A	G63941377A	SCN4A	NM_000334.4(SCN4A):c.4905C>T:p.Ile1635=	coding	Benign
17	63941413	T	C	T63941413C	SCN4A	NM_000334.4(SCN4A):c.4869A>G:p.Thr1623=	coding	Benign
17	63941506	C	A	C63941506A	SCN4A	NM_000334.4(SCN4A):c.4776G>T:p.Met1592Ile	coding	Pathogenic
17	63941508	T	C	T63941508C	SCN4A	NM_000334.4(SCN4A):c.4774A>G:p.Met1592Val	coding	Pathogenic
17	63941517	C	T	C63941517T	SCN4A	NM_000334.4(SCN4A):c.4765G>A:p.Val1589Met	coding	Pathogenic
17	63941677	C	G	C63941677G	SCN4A	NM_000334.4(SCN4A):c.4605G>C:p.Ser1535=	coding	Benign/Likely_benign
17	63941743	G	T	G63941743T	SCN4A	NM_000334.4(SCN4A):c.4539C>A:p.Ile1513=	coding	Benign
17	63941799	T	A	T63941799A	SCN4A	NM_000334.4(SCN4A):c.4483A>T:p.Ile1495Phe	coding	Pathogenic
17	63941819	A	G	A63941819G	SCN4A	NM_000334.4(SCN4A):c.4463T>C:p.Leu1488Pro	coding	Pathogenic
17	63941840	G	T	G63941840T	SCN4A	NM_000334.4(SCN4A):c.4442C>A:p.Ala1481Asp	coding	Pathogenic
17	63941854	C	T	C63941854T	SCN4A	NM_000334.4(SCN4A):c.4428G>A:p.Met1476Ile	coding	Pathogenic
17	63941915	C	T	C63941915T	SCN4A	NM_000334.4(SCN4A):c.4367G>A:p.Gly1456Glu	coding	Pathogenic
17	63941918	A	G	A63941918G	SCN4A	NM_000334.4(SCN4A):c.4364T>C:p.Ile1455Thr	coding	Pathogenic
17	63941939	C	G	C63941939G	SCN4A	NM_000334.4(SCN4A):c.4343G>C:p.Arg1448Pro	coding	Pathogenic
17	63941939	C	T	C63941939T	SCN4A	NM_000334.4(SCN4A):c.4343G>A:p.Arg1448His	coding	Pathogenic
17	63941940	G	A	G63941940A	SCN4A	NM_000334.4(SCN4A):c.4342C>T:p.Arg1448Cys	coding	Pathogenic
17	63941940	G	T	G63941940T	SCN4A	NM_000334.4(SCN4A):c.4342C>A:p.Arg1448Ser	coding	Pathogenic
17	63941957	A	T	A63941957T	SCN4A	NM_000334.4(SCN4A):c.4325T>A:p.Val1442Glu	coding	Pathogenic
17	63941975	A	G	A63941975G	SCN4A	NM_000334.4(SCN4A):c.4307T>C:p.Leu1436Pro	coding	Pathogenic
17	63941984	A	C	A63941984C	SCN4A	NM_000334.4(SCN4A):c.4298T>G:p.Leu1433Arg	coding	Pathogenic
17	63942816	C	A	C63942816A	SCN4A	NM_000334.4(SCN4A):c.4288+10G>T	noncoding	Benign
17	63942988	T	C	T63942988C	SCN4A	NM_000334.4(SCN4A):c.4126A>G:p.Asn1376Asp	coding	Benign
17	63943478	G	A	G63943478A	SCN4A	NM_000334.4(SCN4A):c.4017+268C>T	noncoding	Benign
17	63943506	A	G	A63943506G	SCN4A	NM_000334.4(SCN4A):c.4017+240T>C	noncoding	Benign
17	63943731	C	A	C63943731A	SCN4A	NM_000334.4(SCN4A):c.4017+15G>T	noncoding	Benign
17	63943825	G	A	G63943825A	SCN4A	NM_000334.4(SCN4A):c.3938C>T:p.Thr1313Met	coding	Pathogenic
17	63943846	C	A	C63943846A	SCN4A	NM_000334.4(SCN4A):c.3917G>T:p.Gly1306Val	coding	Pathogenic
17	63943846	C	G	C63943846G	SCN4A	NM_000334.4(SCN4A):c.3917G>C:p.Gly1306Ala	coding	Pathogenic
17	63943846	C	T	C63943846T	SCN4A	NM_000334.4(SCN4A):c.3917G>A:p.Gly1306Glu	coding	Pathogenic
17	63944014	C	T	C63944014T	SCN4A	NM_000334.4(SCN4A):c.3913-164G>A	noncoding	Benign
17	63944694	G	T	G63944694T	SCN4A	NM_000334.4(SCN4A):c.3891C>A:p.Asn1297Lys	coding	Pathogenic
17	63944708	C	T	C63944708T	SCN4A	NM_000334.4(SCN4A):c.3877G>A:p.Val1293Ile	coding	Pathogenic
17	63944804	C	A	C63944804A	SCN4A	NM_000334.4(SCN4A):c.3781G>T:p.Glu1261Ter	coding	Pathogenic
17	63945000	G	A	G63945000A	SCN4A	NM_000334.4(SCN4A):c.3774+7C>T	noncoding	Benign/Likely_benign
17	63945022	G	A	G63945022A	SCN4A	NM_000334.4(SCN4A):c.3759C>T:p.Ala1253=	coding	Benign
17	63945350	T	C	T63945350C	SCN4A	NM_000334.4(SCN4A):c.3720+10A>G	noncoding	Benign
17	63945351	C	A	C63945351A	SCN4A	NM_000334.4(SCN4A):c.3720+9G>T	noncoding	Benign
17	63945353	C	T	C63945353T	SCN4A	NM_000334.4(SCN4A):c.3720+7G>A	noncoding	Benign
17	63945455	A	G	A63945455G	SCN4A	NM_000334.4(SCN4A):c.3625T>C:p.Cys1209Arg	coding	Pathogenic
17	63945564	C	T	C63945564T	SCN4A	NM_000334.4(SCN4A):c.3516G>A:p.Leu1172=	coding	Benign
17	63945602	T	C	T63945602C	SCN4A	NM_000334.4(SCN4A):c.3478A>G:p.Ile1160Val	coding	Pathogenic
17	63945608	G	A	G63945608A	SCN4A	NM_000334.4(SCN4A):c.3472C>T:p.Pro1158Ser	coding	Pathogenic
17	63945768	C	T	C63945768T	SCN4A	NM_000334.4(SCN4A):c.3442-130G>A	noncoding	Benign
17	63946881	C	G	C63946881G	SCN4A	NM_000334.4(SCN4A):c.3441+164G>C	noncoding	Benign
17	63947038	C	T	C63947038T	SCN4A	NM_000334.4(SCN4A):c.3441+7G>A	noncoding	Benign
17	63947082	C	T	C63947082T	SCN4A	NM_000334.4(SCN4A):c.3404G>A:p.Arg1135His	coding	Pathogenic
17	63947091	C	T	C63947091T	SCN4A	NM_000334.4(SCN4A):c.3395G>A:p.Arg1132Gln	coding	Pathogenic
17	63947878	G	T	G63947878T	SCN4A	NM_000334.4(SCN4A):c.3318+12C>A	noncoding	Benign
17	63948227	G	A	G63948227A	SCN4A	NM_000334.4(SCN4A):c.3145-164C>T	noncoding	Benign
17	63948671	G	T	G63948671T	SCN4A	NM_000334.4(SCN4A):c.3084C>A:p.Val1028=	coding	Benign
17	63948728	G	A	G63948728A	SCN4A	NM_000334.4(SCN4A):c.3027C>T:p.Ile1009=	coding	Benign
17	63949388	C	T	C63949388T	SCN4A	NM_000334.4(SCN4A):c.2989+5G>A	noncoding	Benign
17	63949463	G	A	G63949463A	SCN4A	NM_000334.4(SCN4A):c.2919C>T:p.Pro973=	coding	Benign
17	63949469	C	T	C63949469T	SCN4A	NM_000334.4(SCN4A):c.2913G>A:p.Lys971=	coding	Benign
17	63949681	T	C	T63949681C	SCN4A	NM_000334.4(SCN4A):c.2854-153A>G	noncoding	Benign
17	63951529	G	C	G63951529C	SCN4A	NM_000334.4(SCN4A):c.2748C>G:p.Asn916Lys	coding	Benign/Likely_benign
17	63951555	C	T	C63951555T	SCN4A	NM_000334.4(SCN4A):c.2722G>A:p.Glu908Lys	coding	Benign/Likely_benign
17	63951560	C	G	C63951560G	SCN4A	NM_000334.4(SCN4A):c.2717G>C:p.Ser906Thr	coding	Benign/Likely_benign
17	63951632	G	T	G63951632T	SCN4A	NM_000334.4(SCN4A):c.2645C>A:p.Pro882Gln	coding	Benign/Likely_benign
17	63951646	A	G	A63951646G	SCN4A	NM_000334.4(SCN4A):c.2631T>C:p.Asp877=	coding	Benign
17	63957197	C	T	C63957197T	SCN4A	NM_000334.4(SCN4A):c.2341G>A:p.Val781Ile	coding	Benign/Likely_benign
17	63957249	G	A	G63957249A	SCN4A	NM_000334.4(SCN4A):c.2289C>T:p.Ile763=	coding	Benign
17	63957427	G	A	G63957427A	SCN4A	NM_000334.4(SCN4A):c.2111C>T:p.Thr704Met	coding	Pathogenic
17	63957460	A	G	A63957460G	SCN4A	NM_000334.4(SCN4A):c.2078T>C:p.Ile693Thr	coding	Pathogenic
17	63957462	G	C	G63957462C	SCN4A	NM_000334.4(SCN4A):c.2076C>G:p.Ile692Met	coding	Pathogenic
17	63957473	G	T	G63957473T	SCN4A	NM_000334.4(SCN4A):c.2065C>A:p.Leu689Ile	coding	Pathogenic
17	63957514	C	T	C63957514T	SCN4A	NM_000334.4(SCN4A):c.2024G>A:p.Arg675Gln	coding	Pathogenic
17	63957515	G	A	G63957515A	SCN4A	NM_000334.4(SCN4A):c.2023C>T:p.Arg675Trp	coding	Pathogenic
17	63957515	G	C	G63957515C	SCN4A	NM_000334.4(SCN4A):c.2023C>G:p.Arg675Gly	coding	Pathogenic
17	63959269	C	T	C63959269T	SCN4A	NM_000334.4(SCN4A):c.2015G>A:p.Arg672His	coding	Pathogenic
17	63959270	G	A	G63959270A	SCN4A	NM_000334.4(SCN4A):c.2014C>T:p.Arg672Cys	coding	Pathogenic
17	63959270	G	C	G63959270C	SCN4A	NM_000334.4(SCN4A):c.2014C>G:p.Arg672Gly	coding	Pathogenic
17	63959270	G	T	G63959270T	SCN4A	NM_000334.4(SCN4A):c.2014C>A:p.Arg672Ser	coding	Pathogenic
17	63959275	G	T	G63959275T	SCN4A	NM_000334.4(SCN4A):c.2009C>A:p.Ser670Tyr	coding	Pathogenic
17	63959278	C	T	C63959278T	SCN4A	NM_000334.4(SCN4A):c.2006G>A:p.Arg669His	coding	Pathogenic
17	63959337	G	A	G63959337A	SCN4A	NM_000334.4(SCN4A):c.1947C>T:p.Ile649=	coding	Benign/Likely_benign
17	63959349	G	A	G63959349A	SCN4A	NM_000334.4(SCN4A):c.1935C>T:p.Phe645=	coding	Benign/Likely_benign
17	63959361	A	G	A63959361G	SCN4A	NM_000334.4(SCN4A):c.1923T>C:p.Gly641=	coding	Benign
17	63959444	G	T	G63959444T	SCN4A	NM_000334.4(SCN4A):c.1846-6C>A	noncoding	Benign
17	63961186	T	C	T63961186C	SCN4A	NM_000334.4(SCN4A):c.1845+7A>G	noncoding	Benign
17	63961238	G	A	G63961238A	SCN4A	NM_000334.4(SCN4A):c.1800C>T:p.Tyr600=	coding	Benign
17	63963652	C	T	C63963652T	SCN4A	NM_000334.4(SCN4A):c.1606+20G>A	noncoding	Benign/Likely_benign
17	63963708	T	C	T63963708C	SCN4A	NM_000334.4(SCN4A):c.1570A>G:p.Ser524Gly	coding	Benign
17	63963829	T	C	T63963829C	SCN4A	NM_000334.4(SCN4A):c.1453-4A>G	noncoding	Benign/Likely_benign
17	63963848	G	A	G63963848A	SCN4A	NM_000334.4(SCN4A):c.1453-23C>T	noncoding	Benign
17	63963957	G	T	G63963957T	SCN4A	NM_000334.4(SCN4A):c.1453-132C>A	noncoding	Benign
17	63964198	G	T	G63964198T	SCN4A	NM_000334.4(SCN4A):c.1452+270C>A	noncoding	Benign
17	63964244	A	G	A63964244G	SCN4A	NM_000334.4(SCN4A):c.1452+224T>C	noncoding	Benign
17	63964490	T	C	T63964490C	SCN4A	NM_000334.4(SCN4A):c.1430A>G:p.Lys477Arg	coding	Benign/Likely_benign
17	63964587	C	T	C63964587T	SCN4A	NM_000334.4(SCN4A):c.1333G>A:p.Val445Met	coding	Pathogenic
17	63964600	A	C	A63964600C	SCN4A	NM_000334.4(SCN4A):c.1320T>G:p.Asn440Lys	coding	Pathogenic
17	63964632	T	C	T63964632C	SCN4A	NM_000334.4(SCN4A):c.1288A>G:p.Ile430Val	coding	Benign/Likely_benign
17	63964718	T	C	T63964718C	SCN4A	NM_000334.4(SCN4A):c.1243-41A>G	noncoding	Benign
17	63965997	C	G	C63965997G	SCN4A	NM_000334.4(SCN4A):c.1242+105G>C	noncoding	Benign
17	63966143	G	A	G63966143A	SCN4A	NM_000334.4(SCN4A):c.1201C>T:p.Arg401Cys	coding	Pathogenic
17	63966177	A	G	A63966177G	SCN4A	NM_000334.4(SCN4A):c.1167T>C:p.Tyr389=	coding	Benign
17	63966366	A	C	A63966366C	SCN4A	NM_000334.4(SCN4A):c.1100+115T>G	noncoding	Benign
17	63966835	T	C	T63966835C	SCN4A	NM_000334.4(SCN4A):c.1037-291A>G	noncoding	Benign
17	63966848	A	G	A63966848G	SCN4A	NM_000334.4(SCN4A):c.1037-304T>C	noncoding	Benign
17	63968090	C	T	C63968090T	SCN4A	NM_000334.4(SCN4A):c.969G>A:p.Thr323=	coding	Benign/Likely_benign
17	63968091	G	A	G63968091A	SCN4A	NM_000334.4(SCN4A):c.968C>T:p.Thr323Met	coding	Benign/Likely_benign
17	63968096	G	A	G63968096A	SCN4A	NM_000334.4(SCN4A):c.963C>T:p.Asn321=	coding	Benign/Likely_benign
17	63968156	G	A	G63968156A	SCN4A	NM_000334.4(SCN4A):c.903C>T:p.Tyr301=	coding	Benign/Likely_benign
17	63968195	G	A	G63968195A	SCN4A	NM_000334.4(SCN4A):c.864C>T:p.Asn288=	coding	Benign
17	63968251	G	T	G63968251T	SCN4A	NM_000334.4(SCN4A):c.808C>A:p.Gln270Lys	coding	Pathogenic
17	63968321	C	T	C63968321T	SCN4A	NM_000334.4(SCN4A):c.738G>A:p.Ser246=	coding	Benign
17	63968333	G	A	G63968333A	SCN4A	NM_000334.4(SCN4A):c.726C>T:p.Ala242=	coding	Benign
17	63971107	A	G	A63971107G	SCN4A	NM_000334.4(SCN4A):c.703+55T>C	noncoding	Benign
17	63971161	C	A	C63971161A	SCN4A	NM_000334.4(SCN4A):c.703+1G>T	noncoding	Pathogenic
17	63971201	G	A	G63971201A	SCN4A	NM_000334.4(SCN4A):c.664C>T:p.Arg222Trp	coding	Pathogenic/Likely_pathogenic
17	63971844	G	C	G63971844C	SCN4A	NM_000334.4(SCN4A):c.489C>G:p.Thr163=	coding	Benign
17	63971859	G	A	G63971859A	SCN4A	NM_000334.4(SCN4A):c.483-9C>T	noncoding	Benign
17	63972197	T	C	T63972197C	SCN4A	NM_000334.4(SCN4A):c.421A>G:p.Ile141Val	coding	Pathogenic
17	63972214	A	G	A63972214G	SCN4A	NM_000334.4(SCN4A):c.404T>C:p.Met135Thr	coding	Benign
17	63972231	G	T	G63972231T	SCN4A	NM_000334.4(SCN4A):c.393-6C>A	noncoding	Benign
17	63972378	G	A	G63972378A	SCN4A	NM_000334.4(SCN4A):c.366C>T:p.Arg122=	coding	Benign
17	63972389	C	T	C63972389T	SCN4A	NM_000334.4(SCN4A):c.355G>A:p.Val119Ile	coding	Benign/Likely_benign
17	63972426	G	A	G63972426A	SCN4A	NM_000334.4(SCN4A):c.318C>T:p.Ser106=	coding	Benign/Likely_benign
17	63972462	G	A	G63972462A	SCN4A	NM_000334.4(SCN4A):c.282C>T:p.Ile94=	coding	Benign
17	63972594	A	G	A63972594G	SCN4A	NM_000334.4(SCN4A):c.248T>C:p.Leu83Pro	coding	Benign/Likely_benign
17	63972601	C	G	C63972601G	SCN4A	NM_000334.4(SCN4A):c.241G>C:p.Glu81Gln	coding	Benign
17	63972638	G	A	G63972638A	SCN4A	NM_000334.4(SCN4A):c.204C>T:p.Tyr68=	coding	Benign/Likely_benign
17	63972750	C	A	C63972750A	SCN4A	NM_000334.4(SCN4A):c.92G>T:p.Arg31Leu	coding	Benign
17	63972874	G	A	G63972874A	SCN4A	NM_000334.4(SCN4A):c.-33C>T	noncoding	Benign
17	63973081	C	G	C63973081G	SCN4A	NM_000334.4(SCN4A):c.-240G>C	noncoding	Benign
17	63973153	C	T	C63973153T	SCN4A	NM_000334.4(SCN4A):c.-312G>A	noncoding	Benign
17	63973168	T	C	T63973168C	SCN4A	NM_000334.4(SCN4A):c.-327A>G	noncoding	Benign
17	64049098	G	A	G64049098A	ERN1	NM_001433.5(ERN1):c.2358C>T:p.Leu786=	coding	Benign
17	64055698	G	C	G64055698C	ERN1	NM_001433.5(ERN1):c.1649C>G:p.Pro550Arg	coding	Benign
17	64350416	T	C	T64350416C	PECAM1	NM_000442.5(PECAM1):c.2008A>G:p.Arg670Gly	coding	Benign
17	64356203	C	T	C64356203T	PECAM1	NM_000442.5(PECAM1):c.1688G>A:p.Ser563Asn	coding	Benign
17	64377836	C	G	C64377836G	PECAM1	NM_000442.5(PECAM1):c.373G>C:p.Val125Leu	coding	Benign
17	64477929	C	T	C64477929T	POLG2	NM_007215.4(POLG2):c.1352G>A:p.Gly451Glu	coding	Pathogenic
17	64480312	G	A	G64480312A	POLG2	NM_007215.4(POLG2):c.1269C>T:p.Ser423=	coding	Benign
17	64480334	C	G	C64480334G	POLG2	NM_007215.4(POLG2):c.1247G>C:p.Gly416Ala	coding	Benign/Likely_benign
17	64480521	T	C	T64480521C	POLG2	NM_007215.4(POLG2):c.1192-132A>G	noncoding	Benign
17	64482952	A	C	A64482952C	POLG2	NM_007215.4(POLG2):c.1158T>G:p.Asp386Glu	coding	Benign
17	64483156	A	C	A64483156C	POLG2	NM_007215.4(POLG2):c.1111-157T>G	noncoding	Benign
17	64490838	G	A	G64490838A	POLG2	NM_007215.4(POLG2):c.927C>T:p.His309=	coding	Benign
17	64492970	G	C	G64492970C	POLG2	NM_007215.4(POLG2):c.614C>G:p.Pro205Arg	coding	Pathogenic
17	64493139	T	C	T64493139C	POLG2	NM_007215.4(POLG2):c.563-118A>G	noncoding	Benign
17	64496295	A	G	A64496295G	POLG2	NM_007215.4(POLG2):c.562+112T>C	noncoding	Benign
17	64496464	C	T	C64496464T	POLG2	NM_007215.4(POLG2):c.505G>A:p.Ala169Thr	coding	Benign
17	64496512	G	C	G64496512C	POLG2	NM_007215.4(POLG2):c.457C>G:p.Leu153Val	coding	Benign/Likely_benign
17	64496572	G	A	G64496572A	POLG2	NM_007215.4(POLG2):c.397C>T:p.His133Tyr	coding	Benign
17	64497029	C	T	C64497029T	POLG2	NM_007215.4(POLG2):c.-61G>A	noncoding	Benign
17	64497038	A	G	A64497038G	POLG2	NM_007215.4(POLG2):c.-70T>C	noncoding	Benign
17	64497049	A	G	A64497049G	POLG2	NM_007215.4(POLG2):c.-81T>C	noncoding	Benign
17	64497151	A	G	A64497151G	POLG2	NC_000017.11:g.64497151A>G	noncoding	Benign
17	64503194	T	C	T64503194C	DDX5	NM_004396.5(DDX5):c.804A>G:p.Gln268=	coding	Benign
17	64547715	A	G	A64547715G	SMURF2	NM_022739.4(SMURF2):c.1956T>C:p.Ile652=	coding	Benign
17	64571869	G	A	G64571869A	SMURF2	NM_022739.4(SMURF2):c.945C>T:p.Phe315=	coding	Benign
17	64571939	T	C	T64571939C	SMURF2	NM_022739.4(SMURF2):c.875A>G:p.Asn292Ser	coding	Benign
17	64859799	G	A	G64859799A	LRRC37A3	NM_199340.4(LRRC37A3):c.4347C>T:p.Asn1449=	coding	Benign
17	64860033	A	G	A64860033G	LRRC37A3	NM_199340.4(LRRC37A3):c.4113T>C:p.Pro1371=	coding	Benign
17	64860035	G	A	G64860035A	LRRC37A3	NM_199340.4(LRRC37A3):c.4111C>T:p.Pro1371Ser	coding	Benign
17	64860222	G	C	G64860222C	LRRC37A3	NM_199340.4(LRRC37A3):c.3924C>G:p.His1308Gln	coding	Benign
17	64860939	C	T	C64860939T	LRRC37A3	NM_199340.4(LRRC37A3):c.3207G>A:p.Ala1069=	coding	Benign
17	65014290	C	T	C65014290T	GNA13	NM_006572.6(GNA13):c.1101G>A:p.Leu367=	coding	Benign
17	65053580	T	C	T65053580C	GNA13	NM_006572.6(GNA13):c.432A>G:p.Gln144=	coding	Benign
17	65153446	C	T	C65153446T	RGS9	NM_003835.4(RGS9):c.82C>T:p.Gln28Ter	coding	Pathogenic
17	65158318	G	A	G65158318A	RGS9	NM_003835.4(RGS9):c.178G>A:p.Val60Ile	coding	Benign
17	65160282	C	G	C65160282G	RGS9	NM_003835.4(RGS9):c.255C>G:p.Pro85=	coding	Benign
17	65163084	G	A	G65163084A	RGS9	NM_003835.4(RGS9):c.495G>A:p.Gln165=	coding	Benign/Likely_benign
17	65168269	G	C	G65168269C	RGS9	NM_003835.4(RGS9):c.570G>C:p.Val190=	coding	Benign
17	65177758	C	T	C65177758T	RGS9	NM_003835.4(RGS9):c.609C>T:p.Tyr203=	coding	Benign
17	65193569	C	T	C65193569T	RGS9	NM_003835.4(RGS9):c.773C>T:p.Ser258Leu	coding	Benign
17	65197160	T	C	T65197160C	RGS9	NM_003835.4(RGS9):c.895T>C:p.Trp299Arg	coding	Pathogenic
17	65225018	C	T	C65225018T	RGS9	NM_003835.4(RGS9):c.1424C>T:p.Ala475Val	coding	Benign
17	65225096	G	A	G65225096A	RGS9	NM_003835.4(RGS9):c.1502G>A:p.Arg501His	coding	Benign
17	65225224	G	A	G65225224A	RGS9	NM_003835.4(RGS9):c.1630G>A:p.Gly544Arg	coding	Benign
17	65225445	G	C	G65225445C	RGS9	NM_003835.4(RGS9):c.1851G>C:p.Val617=	coding	Benign
17	65528964	A	T	A65528964T	AXIN2	NM_004655.4(AXIN2):c.*1012T>A	noncoding	Benign
17	65529019	A	C	A65529019C	AXIN2	NM_004655.4(AXIN2):c.*957T>G	noncoding	Benign
17	65529130	C	T	C65529130T	AXIN2	NM_004655.4(AXIN2):c.*846G>A	noncoding	Benign
17	65529182	G	T	G65529182T	AXIN2	NM_004655.4(AXIN2):c.*794C>A	noncoding	Benign
17	65529476	A	C	A65529476C	AXIN2	NM_004655.4(AXIN2):c.*500T>G	noncoding	Benign
17	65529650	T	C	T65529650C	AXIN2	NM_004655.4(AXIN2):c.*326A>G	noncoding	Benign
17	65529667	G	T	G65529667T	AXIN2	NM_004655.4(AXIN2):c.*309C>A	noncoding	Benign
17	65529829	G	A	G65529829A	AXIN2	NM_004655.4(AXIN2):c.*147C>T	noncoding	Benign
17	65530069	G	A	G65530069A	AXIN2	NM_004655.4(AXIN2):c.2439C>T:p.Ala813=	coding	Benign/Likely_benign
17	65530075	C	T	C65530075T	AXIN2	NM_004655.4(AXIN2):c.2433G>A:p.Glu811=	coding	Benign/Likely_benign
17	65530110	G	C	G65530110C	AXIN2	NM_004655.4(AXIN2):c.2406-8C>G	noncoding	Benign
17	65533703	C	T	C65533703T	AXIN2	NM_004655.4(AXIN2):c.2405+209G>A	noncoding	Benign
17	65533787	C	A	C65533787A	AXIN2	NM_004655.4(AXIN2):c.2405+125G>T	noncoding	Benign
17	65533986	G	C	G65533986C	AXIN2	NM_004655.4(AXIN2):c.2331C>G:p.Tyr777Ter	coding	Pathogenic
17	65534035	G	T	G65534035T	AXIN2	NM_004655.4(AXIN2):c.2282C>A:p.Ala761Asp	coding	Benign/Likely_benign
17	65535475	A	G	A65535475G	AXIN2	NM_004655.4(AXIN2):c.2237+151T>C	noncoding	Benign
17	65535650	G	A	G65535650A	AXIN2	NM_004655.4(AXIN2):c.2213C>T:p.Ser738Phe	coding	Benign/Likely_benign
17	65536324	G	A	G65536324A	AXIN2	NM_004655.4(AXIN2):c.2137C>T:p.Gln713Ter	coding	Pathogenic
17	65536337	C	G	C65536337G	AXIN2	NM_004655.4(AXIN2):c.2124G>C:p.Ser708=	coding	Benign/Likely_benign
17	65536345	C	A	C65536345A	AXIN2	NM_004655.4(AXIN2):c.2116G>T:p.Glu706Ter	coding	Pathogenic
17	65536352	C	T	C65536352T	AXIN2	NM_004655.4(AXIN2):c.2109G>A:p.Arg703=	coding	Benign
17	65536399	G	A	G65536399A	AXIN2	NM_004655.4(AXIN2):c.2062C>T:p.Leu688=	coding	Benign
17	65536409	C	T	C65536409T	AXIN2	NM_004655.4(AXIN2):c.2052G>A:p.Ala684=	coding	Benign/Likely_benign
17	65536410	G	A	G65536410A	AXIN2	NM_004655.4(AXIN2):c.2051C>T:p.Ala684Val	coding	Benign/Likely_benign
17	65536457	C	T	C65536457T	AXIN2	NM_004655.4(AXIN2):c.2004G>A:p.Gly668=	coding	Benign/Likely_benign
17	65536472	C	T	C65536472T	AXIN2	NM_004655.4(AXIN2):c.1989G>A:p.Trp663Ter	coding	Pathogenic
17	65536495	G	A	G65536495A	AXIN2	NM_004655.4(AXIN2):c.1966C>T:p.Arg656Ter	coding	Pathogenic
17	65536499	G	T	G65536499T	AXIN2	NM_004655.4(AXIN2):c.1962C>A:p.Gly654=	coding	Benign/Likely_benign
17	65536509	G	A	G65536509A	AXIN2	NM_004655.4(AXIN2):c.1952C>T:p.Ser651Leu	coding	Benign/Likely_benign
17	65536549	G	A	G65536549A	AXIN2	NM_004655.4(AXIN2):c.1912C>T:p.Gln638Ter	coding	Pathogenic
17	65536753	C	T	C65536753T	AXIN2	NM_004655.4(AXIN2):c.1907+116G>A	noncoding	Benign
17	65536830	A	T	A65536830T	AXIN2	NM_004655.4(AXIN2):c.1907+39T>A	noncoding	Benign
17	65536889	C	T	C65536889T	AXIN2	NM_004655.4(AXIN2):c.1887G>A:p.Gln629=	coding	Benign/Likely_benign
17	65536945	C	A	C65536945A	AXIN2	NM_004655.4(AXIN2):c.1831G>T:p.Glu611Ter	coding	Pathogenic
17	65536969	C	G	C65536969G	AXIN2	NM_004655.4(AXIN2):c.1807G>C:p.Ala603Pro	coding	Benign
17	65537081	C	T	C65537081T	AXIN2	NM_004655.4(AXIN2):c.1713-18G>A	noncoding	Benign
17	65537185	C	T	C65537185T	AXIN2	NM_004655.4(AXIN2):c.1713-122G>A	noncoding	Benign
17	65537305	C	A	C65537305A	AXIN2	NM_004655.4(AXIN2):c.1712+19G>T	noncoding	Benign
17	65537365	G	A	G65537365A	AXIN2	NM_004655.4(AXIN2):c.1671C>T:p.Ser557=	coding	Benign/Likely_benign
17	65537394	C	A	C65537394A	AXIN2	NM_004655.4(AXIN2):c.1642G>T:p.Glu548Ter	coding	Pathogenic
17	65537413	G	A	G65537413A	AXIN2	NM_004655.4(AXIN2):c.1623C>T:p.Cys541=	coding	Benign/Likely_benign
17	65537421	C	T	C65537421T	AXIN2	NM_004655.4(AXIN2):c.1615G>A:p.Val539Met	coding	Benign/Likely_benign
17	65537463	G	C	G65537463C	AXIN2	NM_004655.4(AXIN2):c.1573C>G:p.Pro525Ala	coding	Benign
17	65537504	G	A	G65537504A	AXIN2	NM_004655.4(AXIN2):c.1532C>T:p.Thr511Met	coding	Benign/Likely_benign
17	65537506	C	T	C65537506T	AXIN2	NM_004655.4(AXIN2):c.1530G>A:p.Thr510=	coding	Benign/Likely_benign
17	65537626	G	A	G65537626A	AXIN2	NM_004655.4(AXIN2):c.1410C>T:p.His470=	coding	Benign
17	65537650	G	A	G65537650A	AXIN2	NM_004655.4(AXIN2):c.1386C>T:p.Pro462=	coding	Benign
17	65537653	G	A	G65537653A	AXIN2	NM_004655.4(AXIN2):c.1383C>T:p.Ser461=	coding	Benign
17	65537656	A	G	A65537656G	AXIN2	NM_004655.4(AXIN2):c.1380T>C:p.Tyr460=	coding	Benign/Likely_benign
17	65537671	T	C	T65537671C	AXIN2	NM_004655.4(AXIN2):c.1365A>G:p.Pro455=	coding	Benign
17	65537709	G	A	G65537709A	AXIN2	NM_004655.4(AXIN2):c.1327C>T:p.Leu443=	coding	Benign/Likely_benign
17	65537731	C	T	C65537731T	AXIN2	NM_004655.4(AXIN2):c.1305G>A:p.Pro435=	coding	Benign/Likely_benign
17	65537743	G	C	G65537743C	AXIN2	NM_004655.4(AXIN2):c.1293C>G:p.Tyr431Ter	coding	Pathogenic
17	65537769	G	A	G65537769A	AXIN2	NM_004655.4(AXIN2):c.1267C>T:p.Leu423Phe	coding	Benign/Likely_benign
17	65537786	G	A	G65537786A	AXIN2	NM_004655.4(AXIN2):c.1250C>T:p.Ala417Val	coding	Benign/Likely_benign
17	65537794	C	T	C65537794T	AXIN2	NM_004655.4(AXIN2):c.1242G>A:p.Arg414=	coding	Benign
17	65537801	T	C	T65537801C	AXIN2	NM_004655.4(AXIN2):c.1235A>G:p.Asn412Ser	coding	Benign
17	65538103	C	T	C65538103T	AXIN2	NM_004655.4(AXIN2):c.1200+100G>A	noncoding	Benign
17	65538195	C	T	C65538195T	AXIN2	NM_004655.4(AXIN2):c.1200+8G>A	noncoding	Benign/Likely_benign
17	65538208	G	A	G65538208A	AXIN2	NM_004655.4(AXIN2):c.1195C>T:p.Arg399Ter	coding	Pathogenic
17	65538302	G	A	G65538302A	AXIN2	NM_004655.4(AXIN2):c.1101C>T:p.Pro367=	coding	Benign/Likely_benign
17	65538360	G	A	G65538360A	AXIN2	NM_004655.4(AXIN2):c.1060-17C>T	noncoding	Benign
17	65541447	G	A	G65541447A	AXIN2	NM_004655.4(AXIN2):c.1059+8C>T	noncoding	Benign/Likely_benign
17	65541478	G	A	G65541478A	AXIN2	NM_004655.4(AXIN2):c.1036C>T:p.Gln346Ter	coding	Pathogenic
17	65549504	T	C	T65549504C	AXIN2	NM_004655.4(AXIN2):c.956+16A>G	noncoding	Benign
17	65549648	C	T	C65549648T	AXIN2	NM_004655.4(AXIN2):c.828G>A:p.Arg276=	coding	Benign/Likely_benign
17	65549828	G	A	G65549828A	AXIN2	NM_004655.4(AXIN2):c.816-168C>T	noncoding	Benign
17	65557841	A	G	A65557841G	AXIN2	NM_004655.4(AXIN2):c.780T>C:p.Ser260=	coding	Benign/Likely_benign
17	65557976	G	A	G65557976A	AXIN2	NM_004655.4(AXIN2):c.645C>T:p.Leu215=	coding	Benign/Likely_benign
17	65558186	G	C	G65558186C	AXIN2	NM_004655.4(AXIN2):c.435C>G:p.Val145=	coding	Benign/Likely_benign
17	65558189	A	G	A65558189G	AXIN2	NM_004655.4(AXIN2):c.432T>C:p.Ile144=	coding	Benign
17	65558266	G	A	G65558266A	AXIN2	NM_004655.4(AXIN2):c.355C>T:p.Gln119Ter	coding	Pathogenic
17	65558288	C	T	C65558288T	AXIN2	NM_004655.4(AXIN2):c.333G>A:p.Trp111Ter	coding	Pathogenic
17	65558307	A	C	A65558307C	AXIN2	NM_004655.4(AXIN2):c.314T>G:p.Val105Gly	coding	Pathogenic
17	65558387	C	T	C65558387T	AXIN2	NM_004655.4(AXIN2):c.234G>A:p.Trp78Ter	coding	Pathogenic
17	65558473	G	A	G65558473A	AXIN2	NM_004655.4(AXIN2):c.148C>T:p.Pro50Ser	coding	Benign
17	65558477	G	A	G65558477A	AXIN2	NM_004655.4(AXIN2):c.144C>T:p.Pro48=	coding	Benign/Likely_benign
17	65558653	T	G	T65558653G	AXIN2	NM_004655.4(AXIN2):c.-33A>C	noncoding	Benign
17	65637177	C	A	C65637177A	CEP112	NM_001199165.4(CEP112):c.2811G>T:p.Leu937=	coding	Benign
17	65902211	G	A	G65902211A	CEP112	NM_001199165.4(CEP112):c.2104C>T:p.Arg702Cys	coding	Pathogenic
17	65902241	G	A	G65902241A	CEP112	NM_001199165.4(CEP112):c.2074C>T:p.Arg692Trp	coding	Pathogenic
17	66132738	G	A	G66132738A	CEP112	NM_001199165.4(CEP112):c.496C>T:p.Arg166Ter	coding	Pathogenic
17	66214639	C	A	C66214639A	APOH	NM_000042.2(APOH):c.796G>T:p.Val266Leu	coding	Benign
17	66220679	G	T	G66220679T	APOH	NM_000042.3(APOH):c.479C>A:p.Ala160Asp	coding	Benign
17	66220681	T	C	T66220681C	APOH	NM_000042.3(APOH):c.477A>G:p.Ser159=	coding	Benign
17	66223717	C	T	C66223717T	APOH	NM_000042.3(APOH):c.396G>A:p.Pro132=	coding	Benign
17	66226018	A	C	A66226018C	APOH	NM_000042.3(APOH):c.338+10T>G	noncoding	Benign
17	66228037	T	C	T66228037C	APOH	NM_000042.3(APOH):c.224A>G:p.Asn75Ser	coding	Benign
17	66228102	C	A	C66228102A	APOH	NM_000042.3(APOH):c.159G>T:p.Pro53=	coding	Benign
17	66229308	G	A	G66229308A	APOH	NM_000042.3(APOH):c.64+8C>T	noncoding	Benign
17	66641453	G	A	G66641453A	PRKCA	NM_002737.3(PRKCA):c.387G>A:p.Gly129=	coding	Benign
17	66688966	C	T	C66688966T	PRKCA	NM_002737.3(PRKCA):c.837C>T:p.Asn279=	coding	Benign
17	66732738	C	T	C66732738T	PRKCA	NM_002737.3(PRKCA):c.969C>T:p.Asp323=	coding	Benign
17	66786982	G	A	G66786982A	PRKCA	NM_002737.3(PRKCA):c.1713+8G>A	noncoding	Benign
17	66803989	G	A	G66803989A	PRKCA	NM_002737.3(PRKCA):c.1971G>A:p.Ser657=	coding	Benign
17	66877389	T	C	T66877389C	CACNG5	NM_145811.3(CACNG5):c.57T>C:p.Cys19=	coding	Benign
17	67340940	A	C	A67340940C	PSMD12	NM_002816.5(PSMD12):c.1274T>G:p.Leu425Ter	coding	Pathogenic
17	67341053	C	T	C67341053T	PSMD12	NM_002816.5(PSMD12):c.1162-1G>A	coding	Pathogenic
17	67344656	C	A	C67344656A	PSMD12	NM_002816.5(PSMD12):c.1033G>T:p.Glu345Ter	coding	Pathogenic
17	67344782	T	C	T67344782C	PSMD12	NM_002816.5(PSMD12):c.909-2A>G	noncoding	Pathogenic
17	67347395	G	A	G67347395A	PSMD12	NM_002816.5(PSMD12):c.601C>T:p.Arg201Ter	coding	Pathogenic
17	67347452	G	A	G67347452A	PSMD12	NM_002816.5(PSMD12):c.544C>T:p.Arg182Ter	coding	Pathogenic
17	67350267	G	A	G67350267A	PSMD12	NM_002816.5(PSMD12):c.367C>T:p.Arg123Ter	coding	Pathogenic
17	67350318	G	A	G67350318A	PSMD12	NM_002816.5(PSMD12):c.316C>T:p.Gln106Ter	coding	Pathogenic
17	67722634	A	G	A67722634G	NOL11	NM_015462.5(NOL11):c.516A>G:p.Glu172=	coding	Benign
17	67726588	C	G	C67726588G	NOL11	NM_015462.5(NOL11):c.793C>G:p.Leu265Val	coding	Benign
17	67893585	G	A	G67893585A	BPTF	NM_182641.4(BPTF):c.2271G>A:p.Leu757=	coding	Benign
17	67903834	C	A	C67903834A	BPTF	NM_182641.4(BPTF):c.2589C>A:p.Val863=	coding	Benign
17	67903864	A	G	A67903864G	BPTF	NM_182641.4(BPTF):c.2619A>G:p.Glu873=	coding	Benign
17	67911177	C	T	C67911177T	BPTF	NM_182641.4(BPTF):c.3293C>T:p.Ser1098Phe	coding	Benign
17	67911296	C	G	C67911296G	BPTF	NM_182641.4(BPTF):c.3412C>G:p.Gln1138Glu	coding	Benign
17	67911387	A	G	A67911387G	BPTF	NM_182641.4(BPTF):c.3503A>G:p.Asp1168Gly	coding	Benign
17	67911798	A	G	A67911798G	BPTF	NM_182641.4(BPTF):c.3914A>G:p.Asp1305Gly	coding	Benign
17	67912039	T	A	T67912039A	BPTF	NM_182641.4(BPTF):c.4155T>A:p.Thr1385=	coding	Benign
17	67918795	T	C	T67918795C	BPTF	NM_182641.4(BPTF):c.5385T>C:p.Asp1795=	coding	Benign
17	67922976	G	A	G67922976A	BPTF	NM_182641.4(BPTF):c.5694G>A:p.Arg1898=	coding	Benign
17	67928408	A	G	A67928408G	BPTF	NM_182641.4(BPTF):c.5805A>G:p.Pro1935=	coding	Benign
17	67940464	A	G	A67940464G	BPTF	NM_182641.4(BPTF):c.6285A>G:p.Gln2095=	coding	Benign
17	67944294	C	T	C67944294T	BPTF	NM_182641.4(BPTF):c.6622C>T:p.Arg2208Ter	coding	Pathogenic
17	67975841	T	G	T67975841G	BPTF	NM_182641.4(BPTF):c.8609T>G:p.Met2870Arg	coding	Pathogenic/Likely_pathogenic
17	67975933	A	T	A67975933T	BPTF	NM_182641.4(BPTF):c.8701A>T:p.Lys2901Ter	coding	Pathogenic
17	68042280	A	T	A68042280T	KPNA2	NM_002266.4(KPNA2):c.498A>T:p.Ala166=	coding	Benign
17	68044059	T	C	T68044059C	KPNA2	NM_002266.4(KPNA2):c.1152T>C:p.Ser384=	coding	Benign
17	68271344	G	C	G68271344C	SLC16A6	NM_004694.5(SLC16A6):c.816C>G:p.Thr272=	coding	Benign
17	68271593	T	C	T68271593C	SLC16A6	NM_004694.5(SLC16A6):c.567A>G:p.Leu189=	coding	Benign
17	68307525	C	T	C68307525T	ARSG	NM_014960.5(ARSG):c.32C>T:p.Ala11Val	coding	Benign
17	68307556	T	A	T68307556A	ARSG	NM_014960.5(ARSG):c.63T>A:p.Pro21=	coding	Benign
17	68307580	G	A	G68307580A	ARSG	NM_014960.5(ARSG):c.87G>A:p.Gly29=	coding	Benign
17	68307626	G	T	G68307626T	ARSG	NM_014960.5(ARSG):c.133G>T:p.Asp45Tyr	coding	Pathogenic
17	68356703	C	T	C68356703T	ARSG	NM_014960.5(ARSG):c.603C>T:p.Leu201=	coding	Benign
17	68368629	G	A	G68368629A	ARSG	NM_014960.5(ARSG):c.786G>A:p.Ala262=	coding	Benign
17	68385152	C	T	C68385152T	ARSG	NM_014960.5(ARSG):c.1071C>T:p.Val357=	coding	Benign
17	68395068	C	T	C68395068T	ARSG	NM_014960.5(ARSG):c.1092-5C>T	noncoding	Benign
17	68420370	C	T	C68420370T	ARSG	NM_014960.5(ARSG):c.1485C>T:p.Asn495=	coding	Benign
17	68427131	C	T	C68427131T	WIPI1	NM_017983.7(WIPI1):c.1192+4G>A	noncoding	Benign
17	68430038	C	T	C68430038T	WIPI1	NM_017983.7(WIPI1):c.923G>A:p.Arg308His	coding	Benign
17	68450824	T	C	T68450824C	WIPI1	NM_017983.7(WIPI1):c.237A>G:p.Lys79=	coding	Benign
17	68512480	G	T	G68512480T	PRKAR1A	NM_212472.2(PRKAR1A):c.-106G>T	noncoding	Benign
17	68512549	G	A	G68512549A	PRKAR1A	NM_212472.2(PRKAR1A):c.-37G>A	noncoding	Pathogenic
17	68515158	C	T	C68515158T	PRKAR1A	NM_212472.2(PRKAR1A):c.-6-236C>T	noncoding	Benign
17	68515387	C	T	C68515387T	PRKAR1A	NM_212472.2(PRKAR1A):c.-6-7C>T	noncoding	Benign/Likely_benign
17	68515390	G	A	G68515390A	PRKAR1A	NM_212472.2(PRKAR1A):c.-6-4G>A	noncoding	Benign/Likely_benign
17	68515400	A	G	A68515400G	PRKAR1A	NM_212472.2(PRKAR1A):c.1A>G:p.Met1Val	coding	Pathogenic
17	68515445	C	T	C68515445T	PRKAR1A	NM_212472.2(PRKAR1A):c.46C>T:p.Arg16Ter	coding	Pathogenic
17	68515481	C	T	C68515481T	PRKAR1A	NM_212472.2(PRKAR1A):c.82C>T:p.Gln28Ter	coding	Pathogenic
17	68515486	G	A	G68515486A	PRKAR1A	NM_212472.2(PRKAR1A):c.87G>A:p.Ala29=	coding	Benign/Likely_benign
17	68515508	C	T	C68515508T	PRKAR1A	NM_212472.2(PRKAR1A):c.109C>T:p.Gln37Ter	coding	Pathogenic
17	68515523	C	T	C68515523T	PRKAR1A	NM_212472.2(PRKAR1A):c.124C>T:p.Arg42Ter	coding	Pathogenic
17	68515555	A	G	A68515555G	PRKAR1A	NM_212472.2(PRKAR1A):c.156A>G:p.Glu52=	coding	Benign/Likely_benign
17	68515577	G	A	G68515577A	PRKAR1A	NM_212472.2(PRKAR1A):c.177+1G>A	coding	Pathogenic
17	68515579	A	G	A68515579G	PRKAR1A	NM_212472.2(PRKAR1A):c.177+3A>G	noncoding	Pathogenic
17	68522522	A	G	A68522522G	PRKAR1A	NM_212472.2(PRKAR1A):c.178-234A>G	noncoding	Benign
17	68522754	A	G	A68522754G	PRKAR1A	NM_212472.2(PRKAR1A):c.178-2A>G	noncoding	Pathogenic
17	68522782	G	A	G68522782A	PRKAR1A	NM_212472.2(PRKAR1A):c.204G>A:p.Leu68=	coding	Benign/Likely_benign
17	68522864	C	T	C68522864T	PRKAR1A	NM_212472.2(PRKAR1A):c.286C>T:p.Arg96Ter	coding	Pathogenic
17	68522867	C	T	C68522867T	PRKAR1A	NM_212472.2(PRKAR1A):c.289C>T:p.Arg97Ter	coding	Pathogenic
17	68522908	G	A	G68522908A	PRKAR1A	NM_212472.2(PRKAR1A):c.330G>A:p.Ala110=	coding	Benign/Likely_benign
17	68522927	G	C	G68522927C	PRKAR1A	NM_212472.2(PRKAR1A):c.348+1G>C	coding	Pathogenic
17	68523757	T	C	T68523757C	PRKAR1A	NM_212472.2(PRKAR1A):c.381T>C:p.Ala127=	coding	Benign/Likely_benign
17	68523831	T	C	T68523831C	PRKAR1A	NM_212472.2(PRKAR1A):c.440+15T>C	noncoding	Benign
17	68524064	T	C	T68524064C	PRKAR1A	NM_212472.2(PRKAR1A):c.489T>C:p.Thr163=	coding	Benign/Likely_benign
17	68524078	G	A	G68524078A	PRKAR1A	NM_212472.2(PRKAR1A):c.502+1G>A	coding	Pathogenic
17	68524286	C	T	C68524286T	PRKAR1A	NM_212472.2(PRKAR1A):c.502+209C>T	noncoding	Benign
17	68524944	C	T	C68524944T	PRKAR1A	NM_212472.2(PRKAR1A):c.535C>T:p.Gln179Ter	coding	Pathogenic
17	68524955	G	A	G68524955A	PRKAR1A	NM_212472.2(PRKAR1A):c.546G>A:p.Thr182=	coding	Benign/Likely_benign
17	68525746	C	T	C68525746T	PRKAR1A	NM_212472.2(PRKAR1A):c.550-8C>T	noncoding	Benign/Likely_benign
17	68525842	C	A	C68525842A	PRKAR1A	NM_212472.2(PRKAR1A):c.638C>A:p.Ala213Asp	coding	Pathogenic
17	68525875	G	A	G68525875A	PRKAR1A	NM_212472.2(PRKAR1A):c.671G>A:p.Trp224Ter	coding	Pathogenic
17	68525876	G	A	G68525876A	PRKAR1A	NM_212472.2(PRKAR1A):c.672G>A:p.Trp224Ter	coding	Pathogenic
17	68525882	C	T	C68525882T	PRKAR1A	NM_212472.2(PRKAR1A):c.678C>T:p.Ile226=	coding	Benign
17	68525886	C	T	C68525886T	PRKAR1A	NM_212472.2(PRKAR1A):c.682C>T:p.Arg228Ter	coding	Pathogenic
17	68525913	G	T	G68525913T	PRKAR1A	NM_212472.2(PRKAR1A):c.708+1G>T	coding	Pathogenic
17	68526054	A	G	A68526054G	PRKAR1A	NM_212472.2(PRKAR1A):c.708+142A>G	noncoding	Benign
17	68527869	T	G	T68527869G	PRKAR1A	NM_212472.2(PRKAR1A):c.738T>G:p.Tyr246Ter	coding	Pathogenic
17	68527893	T	C	T68527893C	PRKAR1A	NM_212472.2(PRKAR1A):c.762T>C:p.Ser254=	coding	Benign/Likely_benign
17	68528861	G	T	G68528861T	PRKAR1A	NM_212472.2(PRKAR1A):c.770-9G>T	noncoding	Benign
17	68528906	A	G	A68528906G	PRKAR1A	NM_212472.2(PRKAR1A):c.806A>G:p.Asp269Gly	coding	Pathogenic
17	68528994	A	G	A68528994G	PRKAR1A	NM_212472.2(PRKAR1A):c.891+3A>G	noncoding	Pathogenic
17	68529919	G	A	G68529919A	PRKAR1A	NM_002734.4(PRKAR1A):c.892-1G>A	noncoding	Pathogenic
17	68530283	T	C	T68530283C	PRKAR1A	NM_212472.2(PRKAR1A):c.980T>C:p.Ile327Thr	coding	Pathogenic
17	68530307	G	C	G68530307C	PRKAR1A	NM_212472.2(PRKAR1A):c.1004G>C:p.Arg335Pro	coding	Pathogenic
17	68530332	C	T	C68530332T	PRKAR1A	NM_212472.2(PRKAR1A):c.1029C>T:p.Gly343=	coding	Benign/Likely_benign
17	68530405	C	T	C68530405T	PRKAR1A	NM_212472.2(PRKAR1A):c.1102C>T:p.Arg368Ter	coding	Pathogenic
17	68530420	T	C	T68530420C	PRKAR1A	NM_212472.2(PRKAR1A):c.1117T>C:p.Tyr373His	coding	Pathogenic
17	68531121	T	C	T68531121C	PRKAR1A	NM_212472.2(PRKAR1A):c.*672T>C	coding	Benign
17	68531244	G	T	G68531244T	PRKAR1A	NM_212472.2(PRKAR1A):c.*795G>T	coding	Benign
17	68531319	G	A	G68531319A	PRKAR1A	NM_212472.2(PRKAR1A):c.*870G>A	coding	Benign
17	68531506	G	A	G68531506A	PRKAR1A	NM_002734.5(PRKAR1A):c.*1057G>A	coding	Benign
17	68531661	T	G	T68531661G	PRKAR1A	NM_212472.2(PRKAR1A):c.*1212T>G	coding	Benign
17	68531693	T	C	T68531693C	PRKAR1A	NM_212472.2(PRKAR1A):c.*1244T>C	coding	Benign
17	68532055	A	G	A68532055G	PRKAR1A	NM_212472.2(PRKAR1A):c.*1606A>G	coding	Benign
17	68532226	C	T	C68532226T	PRKAR1A	NM_212472.2(PRKAR1A):c.*1777C>T	coding	Benign
17	68532637	C	G	C68532637G	PRKAR1A	NM_212472.2(PRKAR1A):c.*2188C>G	coding	Benign
17	68532661	C	T	C68532661T	PRKAR1A	NM_002734.5(PRKAR1A):c.*2212C>T	coding	Benign
17	68533293	A	C	A68533293C	PRKAR1A	NM_002734.5(PRKAR1A):c.*2844A>C	coding	Benign
17	68537514	A	G	A68537514G	FAM20A	NM_017565.4(FAM20A):c.1589T>C:p.Leu530Ser	coding	Benign
17	68537592	G	A	G68537592A	FAM20A;PRKAR1A	NM_017565.4(FAM20A):c.1511C>T:p.Thr504Ile	coding	Benign/Likely_benign
17	68537671	G	A	G68537671A	FAM20A	NM_017565.4(FAM20A):c.1432C>T:p.Arg478Ter	coding	Pathogenic
17	68539384	G	A	G68539384A	FAM20A	NM_017565.4(FAM20A):c.1314C>T:p.His438=	coding	Benign
17	68539946	A	G	A68539946G	FAM20A	NM_017565.4(FAM20A):c.1240T>C:p.Tyr414His	coding	Benign
17	68539955	G	T	G68539955T	FAM20A	NM_017565.4(FAM20A):c.1231C>A:p.Arg411=	coding	Benign
17	68540862	G	A	G68540862A	FAM20A	NM_017565.4(FAM20A):c.1206C>T:p.Phe402=	coding	Benign
17	68542098	G	T	G68542098T	FAM20A	NM_017565.4(FAM20A):c.996C>A:p.Asn332Lys	coding	Benign
17	68542796	G	A	G68542796A	FAM20A	NM_017565.4(FAM20A):c.826C>T:p.Arg276Ter	coding	Pathogenic
17	68542811	T	C	T68542811C	FAM20A	NM_017565.4(FAM20A):c.813-2A>G	noncoding	Pathogenic
17	68543723	T	C	T68543723C	FAM20A	NM_017565.4(FAM20A):c.720-2A>G	noncoding	Pathogenic
17	68554829	T	C	T68554829C	FAM20A	NM_017565.4(FAM20A):c.590-2A>G	noncoding	Pathogenic
17	68555704	G	A	G68555704A	FAM20A	NM_017565.4(FAM20A):c.444C>T:p.Ser148=	coding	Benign
17	68555742	G	A	G68555742A	FAM20A	NM_017565.4(FAM20A):c.406C>T:p.Arg136Ter	coding	Pathogenic
17	68600260	C	T	C68600260T	FAM20A	NM_017565.4(FAM20A):c.404+3G>A	noncoding	Benign
17	68600322	C	G	C68600322G	FAM20A	NM_017565.4(FAM20A):c.345G>C:p.Ser115=	coding	Benign
17	68600322	C	T	C68600322T	FAM20A	NM_017565.4(FAM20A):c.345G>A:p.Ser115=	coding	Benign
17	68600509	A	T	A68600509T	FAM20A	NM_017565.4(FAM20A):c.158T>A:p.Leu53Gln	coding	Benign
17	68600628	C	T	C68600628T	FAM20A	NM_017565.4(FAM20A):c.39G>A:p.Leu13=	coding	Benign
17	68600649	C	T	C68600649T	FAM20A	NM_017565.4(FAM20A):c.18G>A:p.Arg6=	coding	Benign
17	68600659	C	A	C68600659A	FAM20A	NM_017565.4(FAM20A):c.8G>T:p.Gly3Val	coding	Benign
17	68876704	C	G	C68876704G	ABCA8	NM_001288985.2(ABCA8):c.4200-1G>C	coding	Benign
17	68883824	C	T	C68883824T	ABCA8	NM_001288985.2(ABCA8):c.3674G>A:p.Gly1225Glu	coding	Benign
17	68919463	G	A	G68919463A	ABCA8	NM_001288985.2(ABCA8):c.1626C>T:p.Ile542=	coding	Benign
17	68932332	C	T	C68932332T	ABCA8	NM_001288985.2(ABCA8):c.753G>A:p.Met251Ile	coding	Benign
17	69253793	C	G	C69253793G	ABCA5	NM_172232.4(ABCA5):c.4320+1G>C	noncoding	Pathogenic
17	69255743	A	G	A69255743G	ABCA5	NM_172232.4(ABCA5):c.3966T>C:p.Cys1322=	coding	Benign
17	69264783	C	T	C69264783T	ABCA5	NM_172232.4(ABCA5):c.3267G>A:p.Leu1089=	coding	Benign
17	69274068	A	G	A69274068G	ABCA5	NM_172232.4(ABCA5):c.2655T>C:p.Ser885=	coding	Benign
17	69274111	A	G	A69274111G	ABCA5	NM_172232.4(ABCA5):c.2612T>C:p.Ile871Thr	coding	Benign
17	69284043	T	C	T69284043C	ABCA5	NM_172232.4(ABCA5):c.2302A>G:p.Asn768Asp	coding	Benign
17	69297222	A	C	A69297222C	ABCA5	NM_172232.4(ABCA5):c.1405T>G:p.Ser469Ala	coding	Benign
17	69302876	A	G	A69302876G	ABCA5	NM_172232.4(ABCA5):c.961T>C:p.Phe321Leu	coding	Benign
17	69309347	A	G	A69309347G	ABCA5	NM_172232.4(ABCA5):c.384T>C:p.Gly128=	coding	Benign
17	70133320	A	G	A70133320G	KCNJ16	NM_018658.2(KCNJ16):c.1338A>G:p.Arg446=	coding	Benign
17	70175038	C	T	C70175038T	KCNJ2	NM_000891.2(KCNJ2):c.-2C>T	noncoding	Benign/Likely_benign
17	70175135	C	T	C70175135T	KCNJ2	NM_000891.2(KCNJ2):c.96C>T:p.Asn32=	coding	Benign
17	70175200	G	T	G70175200T	KCNJ2	NM_000891.2(KCNJ2):c.161G>T:p.Cys54Phe	coding	Pathogenic
17	70175213	C	T	C70175213T	KCNJ2	NM_000891.2(KCNJ2):c.174C>T:p.Phe58=	coding	Benign/Likely_benign
17	70175238	C	T	C70175238T	KCNJ2	NM_000891.2(KCNJ2):c.199C>T:p.Arg67Trp	coding	Pathogenic
17	70175239	G	A	G70175239A	KCNJ2	NM_000891.2(KCNJ2):c.200G>A:p.Arg67Gln	coding	Pathogenic/Likely_pathogenic
17	70175251	A	T	A70175251T	KCNJ2	NM_000891.2(KCNJ2):c.212A>T:p.Asp71Val	coding	Pathogenic
17	70175252	C	T	C70175252T	KCNJ2	NM_000891.2(KCNJ2):c.213C>T:p.Asp71=	coding	Benign/Likely_benign
17	70175263	C	G	C70175263G	KCNJ2	NM_000891.2(KCNJ2):c.224C>G:p.Thr75Arg	coding	Pathogenic
17	70175263	C	T	C70175263T	KCNJ2	NM_000891.2(KCNJ2):c.224C>T:p.Thr75Met	coding	Pathogenic
17	70175264	G	A	G70175264A	KCNJ2	NM_000891.3(KCNJ2):c.225G>A:p.Thr75=	coding	Benign
17	70175271	G	T	G70175271T	KCNJ2	NM_000891.2(KCNJ2):c.232G>T:p.Asp78Tyr	coding	Pathogenic
17	70175272	A	G	A70175272G	KCNJ2	NM_000891.2(KCNJ2):c.233A>G:p.Asp78Gly	coding	Pathogenic
17	70175283	C	T	C70175283T	KCNJ2	NM_000891.2(KCNJ2):c.244C>T:p.Arg82Trp	coding	Pathogenic
17	70175284	G	A	G70175284A	KCNJ2	NM_000891.2(KCNJ2):c.245G>A:p.Arg82Gln	coding	Pathogenic/Likely_pathogenic
17	70175411	C	T	C70175411T	KCNJ2	NM_000891.2(KCNJ2):c.372C>T:p.Ser124=	coding	Benign
17	70175470	G	A	G70175470A	KCNJ2	NM_000891.2(KCNJ2):c.431G>A:p.Gly144Asp	coding	Pathogenic
17	70175470	G	C	G70175470C	KCNJ2	NM_000891.2(KCNJ2):c.431G>C:p.Gly144Ala	coding	Pathogenic
17	70175553	G	A	G70175553A	KCNJ2	NM_000891.2(KCNJ2):c.514G>A:p.Asp172Asn	coding	Pathogenic
17	70175596	C	T	C70175596T	KCNJ2	NM_000891.2(KCNJ2):c.557C>T:p.Pro186Leu	coding	Pathogenic
17	70175613	A	G	A70175613G	KCNJ2	NM_000891.2(KCNJ2):c.574A>G:p.Thr192Ala	coding	Pathogenic
17	70175617	T	C	T70175617C	KCNJ2	NM_000891.3(KCNJ2):c.578T>C:p.Leu193Pro	coding	Pathogenic
17	70175683	G	A	G70175683A	KCNJ2	NM_000891.2(KCNJ2):c.644G>A:p.Gly215Asp	coding	Pathogenic
17	70175685	A	C	A70175685C	KCNJ2	NM_000891.2(KCNJ2):c.646A>C:p.Asn216His	coding	Pathogenic
17	70175691	C	T	C70175691T	KCNJ2	NM_000891.2(KCNJ2):c.652C>T:p.Arg218Trp	coding	Pathogenic
17	70175692	G	A	G70175692A	KCNJ2	NM_000891.2(KCNJ2):c.653G>A:p.Arg218Gln	coding	Pathogenic
17	70175699	C	T	C70175699T	KCNJ2	NM_000891.2(KCNJ2):c.660C>T:p.Ser220=	coding	Benign
17	70175721	C	T	C70175721T	KCNJ2	NM_000891.2(KCNJ2):c.682C>T:p.Arg228Ter	coding	Pathogenic
17	70175754	G	T	G70175754T	KCNJ2	NM_000891.2(KCNJ2):c.715G>T:p.Glu239Ter	coding	Pathogenic
17	70175812	T	C	T70175812C	KCNJ2	NM_000891.2(KCNJ2):c.773T>C:p.Ile258Thr	coding	Benign
17	70175818	G	C	G70175818C	KCNJ2	NM_000891.2(KCNJ2):c.779G>C:p.Arg260Pro	coding	Pathogenic
17	70175938	G	A	G70175938A	KCNJ2	NM_000891.2(KCNJ2):c.899G>A:p.Gly300Asp	coding	Pathogenic
17	70175938	G	T	G70175938T	KCNJ2	NM_000891.2(KCNJ2):c.899G>T:p.Gly300Val	coding	Pathogenic
17	70175941	T	G	T70175941G	KCNJ2	NM_000891.2(KCNJ2):c.902T>G:p.Met301Arg	coding	Pathogenic
17	70175943	G	A	G70175943A	KCNJ2	NM_000891.2(KCNJ2):c.904G>A:p.Val302Met	coding	Pathogenic
17	70175952	A	C	A70175952C	KCNJ2	NM_000891.2(KCNJ2):c.913A>C:p.Thr305Pro	coding	Pathogenic
17	70176005	G	C	G70176005C	KCNJ2	NM_000891.2(KCNJ2):c.966G>C:p.Trp322Cys	coding	Pathogenic
17	70176074	C	T	C70176074T	KCNJ2	NM_000891.2(KCNJ2):c.1035C>T:p.His345=	coding	Benign
17	70176083	C	T	C70176083T	KCNJ2	NM_000891.2(KCNJ2):c.1044C>T:p.Tyr348=	coding	Benign/Likely_benign
17	70176104	T	G	T70176104G	KCNJ2	NM_000891.2(KCNJ2):c.1065T>G:p.Leu355=	coding	Benign/Likely_benign
17	70176119	C	T	C70176119T	KCNJ2	NM_000891.2(KCNJ2):c.1080C>T:p.Asp360=	coding	Benign/Likely_benign
17	70176185	C	T	C70176185T	KCNJ2	NM_000891.2(KCNJ2):c.1146C>T:p.Leu382=	coding	Benign
17	70176216	G	T	G70176216T	KCNJ2	NM_000891.2(KCNJ2):c.1177G>T:p.Gly393Ter	coding	Pathogenic
17	70176239	G	A	G70176239A	KCNJ2	NM_000891.2(KCNJ2):c.1200G>A:p.Thr400=	coding	Benign/Likely_benign
17	70176459	G	A	G70176459A	KCNJ2	NM_000891.2(KCNJ2):c.*136G>A	noncoding	Benign
17	70176881	C	T	C70176881T	KCNJ2	NM_000891.2(KCNJ2):c.*558C>T	noncoding	Benign
17	70176947	G	A	G70176947A	KCNJ2	NM_000891.2(KCNJ2):c.*624G>A	noncoding	Benign
17	70177155	G	A	G70177155A	KCNJ2	NM_000891.2(KCNJ2):c.*832G>A	noncoding	Benign
17	70177392	C	T	C70177392T	KCNJ2	NM_000891.2(KCNJ2):c.*1069C>T	noncoding	Benign
17	70177448	G	A	G70177448A	KCNJ2	NM_000891.2(KCNJ2):c.*1125G>A	noncoding	Benign/Likely_benign
17	70177521	A	G	A70177521G	KCNJ2	NM_000891.2(KCNJ2):c.*1198A>G	noncoding	Benign
17	70177574	C	T	C70177574T	KCNJ2	NM_000891.2(KCNJ2):c.*1251C>T	noncoding	Benign
17	70177589	C	T	C70177589T	KCNJ2	NM_000891.3(KCNJ2):c.*1266C>T	noncoding	Benign
17	70177590	A	G	A70177590G	KCNJ2	NM_000891.2(KCNJ2):c.*1267A>G	noncoding	Benign
17	70177673	G	A	G70177673A	KCNJ2	NM_000891.2(KCNJ2):c.*1350G>A	noncoding	Benign/Likely_benign
17	70177919	A	C	A70177919C	KCNJ2	NM_000891.2(KCNJ2):c.*1596A>C	noncoding	Benign/Likely_benign
17	70179819	T	C	T70179819C	KCNJ2	NM_000891.2(KCNJ2):c.*3496T>C	noncoding	Benign
17	72121223	G	A	G72121223A	SOX9	NM_000346.4(SOX9):c.-169G>A	noncoding	Benign
17	72121433	G	A	G72121433A	SOX9	NM_000346.4(SOX9):c.42G>A:p.Gln14=	coding	Benign
17	72121467	A	G	A72121467G	SOX9	NM_000346.4(SOX9):c.76A>G:p.Met26Val	coding	Benign
17	72121587	G	T	G72121587T	SOX9	NM_000346.4(SOX9):c.196G>T:p.Glu66Ter	coding	Pathogenic
17	72121618	C	A	C72121618A	SOX9	NM_000346.4(SOX9):c.227C>A:p.Ala76Glu	coding	Pathogenic
17	72121643	C	G	C72121643G	SOX9	NM_000346.4(SOX9):c.252C>G:p.Tyr84Ter	coding	Pathogenic
17	72121667	G	T	G72121667T	SOX9	NM_000346.4(SOX9):c.276G>T:p.Pro92=	coding	Benign
17	72121722	G	A	G72121722A	SOX9	NM_000346.4(SOX9):c.331G>A:p.Ala111Thr	coding	Pathogenic
17	72121735	G	A	G72121735A	SOX9	NM_000346.4(SOX9):c.344G>A:p.Trp115Ter	coding	Pathogenic
17	72121740	C	T	C72121740T	SOX9	NM_000346.4(SOX9):c.349C>T:p.Gln117Ter	coding	Pathogenic
17	72122558	G	A	G72122558A	SOX9	NM_000346.4(SOX9):c.432-161G>A	noncoding	Benign
17	72122717	A	T	A72122717T	SOX9	NM_000346.4(SOX9):c.432-2A>T	noncoding	Pathogenic
17	72122729	G	T	G72122729T	SOX9	NM_000346.4(SOX9):c.442G>T:p.Glu148Ter	coding	Pathogenic
17	72122749	C	G	C72122749G	SOX9	NM_000346.4(SOX9):c.462C>G:p.Phe154Leu	coding	Pathogenic
17	72122759	G	A	G72122759A	SOX9	NM_000346.4(SOX9):c.472G>A:p.Ala158Thr	coding	Pathogenic
17	72122778	A	C	A72122778C	SOX9	NM_000346.4(SOX9):c.491A>C:p.Gln164Pro	coding	Pathogenic
17	72122780	C	T	C72122780T	SOX9	NM_000346.4(SOX9):c.493C>T:p.His165Tyr	coding	Pathogenic
17	72122794	C	T	C72122794T	SOX9	NM_000346.4(SOX9):c.507C>T:p.His169=	coding	Benign
17	72122796	C	T	C72122796T	SOX9	NM_000346.4(SOX9):c.509C>T:p.Pro170Leu	coding	Pathogenic
17	72122804	A	G	A72122804G	SOX9	NM_000346.4(SOX9):c.517A>G:p.Lys173Glu	coding	Pathogenic
17	72122809	C	A	C72122809A	SOX9	NM_000346.4(SOX9):c.522C>A:p.Tyr174Ter	coding	Pathogenic
17	72122809	C	G	C72122809G	SOX9	NM_000346.4(SOX9):c.522C>G:p.Tyr174Ter	coding	Pathogenic
17	72122870	C	T	C72122870T	SOX9	NM_000346.4(SOX9):c.583C>T:p.Gln195Ter	coding	Pathogenic
17	72122980	G	A	G72122980A	SOX9	NM_000346.4(SOX9):c.685+8G>A	noncoding	Benign/Likely_benign
17	72123104	C	G	C72123104G	SOX9	NM_000346.4(SOX9):c.685+132C>G	noncoding	Benign
17	72123638	G	T	G72123638T	SOX9	NM_000346.4(SOX9):c.781G>T:p.Glu261Ter	coding	Pathogenic
17	72123715	C	A	C72123715A	SOX9	NM_000346.4(SOX9):c.858C>A:p.Ile286=	coding	Benign
17	72123814	C	G	C72123814G	SOX9	NM_000346.4(SOX9):c.957C>G:p.Tyr319Ter	coding	Pathogenic/Likely_pathogenic
17	72123938	C	T	C72123938T	SOX9	NM_000346.4(SOX9):c.1081C>T:p.Gln361Ter	coding	Pathogenic
17	72123970	G	A	G72123970A	SOX9	NM_000346.4(SOX9):c.1113G>A:p.Ala371=	coding	Benign
17	72124034	C	T	C72124034T	SOX9	NM_000346.4(SOX9):c.1177C>T:p.Gln393Ter	coding	Pathogenic/Likely_pathogenic
17	72124037	C	T	C72124037T	SOX9	NM_000346.4(SOX9):c.1180C>T:p.Arg394Ter	coding	Pathogenic
17	72124091	C	T	C72124091T	SOX9	NM_000346.4(SOX9):c.1234C>T:p.Gln412Ter	coding	Pathogenic/Likely_pathogenic
17	72124106	C	T	C72124106T	SOX9	NM_000346.4(SOX9):c.1249C>T:p.Gln417Ter	coding	Pathogenic
17	72124177	C	A	C72124177A	SOX9	NM_000346.4(SOX9):c.1320C>A:p.Tyr440Ter	coding	Pathogenic
17	72124177	C	G	C72124177G	SOX9	NM_000346.4(SOX9):c.1320C>G:p.Tyr440Ter	coding	Pathogenic
17	72124177	C	T	C72124177T	SOX9	NM_000346.4(SOX9):c.1320C>T:p.Tyr440=	coding	Benign/Likely_benign
17	72124229	C	T	C72124229T	SOX9	NM_000346.4(SOX9):c.1372C>T:p.Gln458Ter	coding	Pathogenic
17	73084842	C	T	C73084842T	SLC39A11	NM_001159770.2(SLC39A11):c.113G>A:p.Arg38Gln	coding	Benign
17	73088759	G	A	G73088759A	SLC39A11	NM_001159770.2(SLC39A11):c.6C>T:p.Leu2=	coding	Benign
17	73193043	A	G	A73193043G	COG1	NM_018714.2(COG1):c.-27A>G	noncoding	Benign
17	73196524	G	A	G73196524A	COG1	NM_018714.3(COG1):c.333G>A:p.Gln111=	coding	Benign
17	73196713	T	C	T73196713C	COG1	NM_018714.3(COG1):c.522T>C:p.Pro174=	coding	Benign/Likely_benign
17	73196720	A	G	A73196720G	COG1	NM_018714.3(COG1):c.529A>G:p.Ile177Val	coding	Benign/Likely_benign
17	73196734	A	G	A73196734G	COG1	NM_018714.3(COG1):c.543A>G:p.Ala181=	coding	Benign
17	73197258	G	T	G73197258T	COG1	NM_018714.3(COG1):c.775G>T:p.Val259Leu	coding	Benign/Likely_benign
17	73200000	C	T	C73200000T	COG1	NM_018714.3(COG1):c.1049C>T:p.Thr350Met	coding	Benign/Likely_benign
17	73200026	G	A	G73200026A	COG1	NM_018714.3(COG1):c.1070+5G>A	noncoding	Pathogenic
17	73200670	A	G	A73200670G	COG1	NM_018714.3(COG1):c.1175A>G:p.Asn392Ser	coding	Benign
17	73201184	G	C	G73201184C	COG1	NM_018714.3(COG1):c.1357G>C:p.Glu453Gln	coding	Benign
17	73201255	G	A	G73201255A	COG1	NM_018714.3(COG1):c.1428G>A:p.Trp476Ter	coding	Pathogenic
17	73201300	C	T	C73201300T	COG1	NM_018714.3(COG1):c.1473C>T:p.Ser491=	coding	Benign
17	73201609	G	A	G73201609A	COG1	NM_018714.3(COG1):c.1782G>A:p.Glu594=	coding	Benign
17	73201720	C	T	C73201720T	COG1	NM_018714.3(COG1):c.1893C>T:p.Cys631=	coding	Benign
17	73203642	A	G	A73203642G	COG1	NM_018714.3(COG1):c.2231A>G:p.Tyr744Cys	coding	Benign
17	73205536	T	C	T73205536C	COG1	NM_018714.3(COG1):c.2383-17T>C	noncoding	Benign
17	73206698	T	G	T73206698G	COG1	NM_018714.3(COG1):c.2620-10T>G	noncoding	Benign/Likely_benign
17	73414752	C	G	C73414752G	SDK2	NM_001144952.2(SDK2):c.2376G>C:p.Thr792=	coding	Benign
17	73438054	C	T	C73438054T	SDK2	NM_001144952.2(SDK2):c.826G>A:p.Gly276Ser	coding	Benign
17	73472188	G	A	G73472188A	SDK2	NM_001144952.2(SDK2):c.255C>T:p.His85=	coding	Benign
17	74274303	A	G	A74274303G	DNAI2	NM_023036.6(DNAI2):c.-54A>G	noncoding	Benign
17	74281941	G	A	G74281941A	DNAI2	NM_023036.6(DNAI2):c.124G>A:p.Val42Met	coding	Benign/Likely_benign
17	74285090	G	A	G74285090A	DNAI2	NM_023036.6(DNAI2):c.234G>A:p.Glu78=	coding	Benign/Likely_benign
17	74285228	A	G	A74285228G	DNAI2	NM_023036.6(DNAI2):c.345+27A>G	noncoding	Benign
17	74286974	T	G	T74286974G	DNAI2	NM_023036.6(DNAI2):c.346-3T>G	noncoding	Pathogenic
17	74287027	G	A	G74287027A	DNAI2	NM_023036.6(DNAI2):c.396G>A:p.Glu132=	coding	Benign
17	74287052	G	T	G74287052T	DNAI2	NM_023036.6(DNAI2):c.421G>T:p.Glu141Ter	coding	Pathogenic
17	74287064	G	T	G74287064T	DNAI2	NM_023036.6(DNAI2):c.433G>T:p.Glu145Ter	coding	Pathogenic
17	74289566	C	T	C74289566T	DNAI2	NM_023036.6(DNAI2):c.468-28C>T	noncoding	Benign
17	74289672	C	A	C74289672A	DNAI2	NM_023036.6(DNAI2):c.546C>A:p.Tyr182Ter	coding	Pathogenic
17	74289716	A	T	A74289716T	DNAI2	NM_023036.6(DNAI2):c.590A>T:p.Asp197Val	coding	Benign/Likely_benign
17	74289767	G	A	G74289767A	DNAI2	NM_023036.6(DNAI2):c.610+31G>A	noncoding	Benign
17	74291094	T	G	T74291094G	DNAI2	NM_023036.6(DNAI2):c.685T>G:p.Ser229Ala	coding	Benign
17	74291127	C	T	C74291127T	DNAI2	NM_023036.6(DNAI2):c.718C>T:p.Gln240Ter	coding	Pathogenic
17	74299740	C	T	C74299740T	DNAI2	NM_023036.6(DNAI2):c.747C>T:p.Gly249=	coding	Benign/Likely_benign
17	74299780	C	T	C74299780T	DNAI2	NM_023036.6(DNAI2):c.787C>T:p.Arg263Ter	coding	Pathogenic
17	74299827	C	T	C74299827T	DNAI2	NM_023036.6(DNAI2):c.834C>T:p.Thr278=	coding	Benign
17	74301028	C	T	C74301028T	DNAI2	NM_023036.6(DNAI2):c.865-18C>T	noncoding	Benign
17	74301041	A	G	A74301041G	DNAI2	NM_023036.6(DNAI2):c.865-5A>G	noncoding	Benign
17	74301057	G	A	G74301057A	DNAI2	NM_023036.6(DNAI2):c.876G>A:p.Trp292Ter	coding	Pathogenic
17	74301064	C	T	C74301064T	DNAI2	NM_023036.6(DNAI2):c.883C>T:p.Arg295Ter	coding	Pathogenic
17	74301114	G	A	G74301114A	DNAI2	NM_023036.6(DNAI2):c.933G>A:p.Lys311=	coding	Benign/Likely_benign
17	74301130	G	A	G74301130A	DNAI2	NM_023036.6(DNAI2):c.949G>A:p.Ala317Thr	coding	Benign/Likely_benign
17	74305284	G	A	G74305284A	DNAI2	NM_023036.6(DNAI2):c.1053G>A:p.Thr351=	coding	Benign
17	74305293	A	G	A74305293G	DNAI2	NM_023036.6(DNAI2):c.1062A>G:p.Glu354=	coding	Benign
17	74305362	G	A	G74305362A	DNAI2	NM_023036.6(DNAI2):c.1131G>A:p.Pro377=	coding	Benign
17	74305363	A	T	A74305363T	DNAI2	NM_023036.6(DNAI2):c.1132A>T:p.Lys378Ter	coding	Pathogenic
17	74309285	G	A	G74309285A	DNAI2	NM_023036.6(DNAI2):c.1244G>A:p.Trp415Ter	coding	Pathogenic
17	74309345	G	A	G74309345A	DNAI2	NM_023036.6(DNAI2):c.1304G>A:p.Trp435Ter	coding	Pathogenic/Likely_pathogenic
17	74309395	C	T	C74309395T	DNAI2	NM_023036.6(DNAI2):c.1347+7C>T	noncoding	Benign
17	74310083	C	T	C74310083T	DNAI2	NM_023036.6(DNAI2):c.1414C>T:p.Gln472Ter	coding	Pathogenic
17	74310089	G	A	G74310089A	DNAI2	NM_023036.6(DNAI2):c.1420G>A:p.Gly474Arg	coding	Pathogenic
17	74310100	C	G	C74310100G	DNAI2	NM_023036.6(DNAI2):c.1431C>G:p.Thr477=	coding	Benign/Likely_benign
17	74310131	C	T	C74310131T	DNAI2	NM_023036.6(DNAI2):c.1462C>T:p.Leu488Phe	coding	Benign/Likely_benign
17	74310152	G	A	G74310152A	DNAI2	NM_023036.6(DNAI2):c.1483G>A:p.Val495Ile	coding	Benign
17	74310154	A	G	A74310154G	DNAI2	NM_023036.6(DNAI2):c.1485A>G:p.Val495=	coding	Benign
17	74310164	G	A	G74310164A	DNAI2	NM_023036.6(DNAI2):c.1494+1G>A	coding	Pathogenic
17	74310164	G	C	G74310164C	DNAI2	NM_023036.6(DNAI2):c.1494+1G>C	coding	Pathogenic
17	74312024	C	T	C74312024T	DNAI2	NM_023036.6(DNAI2):c.1516C>T:p.Arg506Ter	coding	Pathogenic
17	74312080	G	A	G74312080A	DNAI2	NM_023036.6(DNAI2):c.1572G>A:p.Lys524=	coding	Benign/Likely_benign
17	74312152	C	A	C74312152A	DNAI2	NM_023036.6(DNAI2):c.1644C>A:p.Ala548=	coding	Benign
17	74312168	G	A	G74312168A	DNAI2	NM_023036.6(DNAI2):c.1660G>A:p.Asp554Asn	coding	Benign/Likely_benign
17	74312180	G	A	G74312180A	DNAI2	NM_023036.6(DNAI2):c.1672G>A:p.Ala558Thr	coding	Benign
17	74312264	G	A	G74312264A	DNAI2	NM_023036.6(DNAI2):c.1722+34G>A	noncoding	Benign
17	74312271	C	T	C74312271T	DNAI2	NM_023036.6(DNAI2):c.1722+41C>T	noncoding	Benign
17	74349251	G	A	G74349251A	KIF19	NM_153209.4(KIF19):c.1115G>A:p.Arg372Gln	coding	Benign
17	74370533	G	A	G74370533A	GPR142	NM_181790.1(GPR142):c.371G>A:p.Arg124Gln	coding	Benign
17	74371859	C	T	C74371859T	GPR142	NM_181790.1(GPR142):c.648C>T:p.Leu216=	coding	Benign
17	74372244	C	A	C74372244A	GPR142	NM_181790.1(GPR142):c.1033C>A:p.Arg345=	coding	Benign
17	74372282	C	A	C74372282A	GPR142	NM_181790.1(GPR142):c.1071C>A:p.Ala357=	coding	Benign
17	74439981	A	G	A74439981G	GPRC5C	NM_022036.4(GPRC5C):c.205A>G:p.Ile69Val	coding	Benign
17	74748978	C	T	C74748978T	SLC9A3R1	NM_004252.5(SLC9A3R1):c.132C>T:p.Pro44=	coding	Benign
17	74749113	G	A	G74749113A	SLC9A3R1	NM_004252.5(SLC9A3R1):c.267G>A:p.Leu89=	coding	Benign
17	74763390	G	A	G74763390A	SLC9A3R1	NM_004252.5(SLC9A3R1):c.627G>A:p.Gly209=	coding	Benign
17	74790238	C	T	C74790238T	TMEM104	NM_017728.4(TMEM104):c.288C>T:p.Ser96=	coding	Benign
17	74795600	C	G	C74795600G	TMEM104	NM_017728.4(TMEM104):c.604C>G:p.Leu202Val	coding	Benign
17	74842550	G	A	G74842550A	GRIN2C	NM_000835.6(GRIN2C):c.3587C>T:p.Thr1196Ile	coding	Benign
17	74849868	G	A	G74849868A	GRIN2C	NM_000835.6(GRIN2C):c.1557C>T:p.Ile519=	coding	Benign
17	74850229	C	T	C74850229T	GRIN2C	NM_000835.6(GRIN2C):c.1468G>A:p.Val490Ile	coding	Benign
17	74850576	C	T	C74850576T	GRIN2C	NM_000835.6(GRIN2C):c.1305G>A:p.Arg435=	coding	Benign
17	74850679	C	T	C74850679T	GRIN2C	NM_000835.6(GRIN2C):c.1202G>A:p.Arg401Gln	coding	Benign
17	74854994	G	A	G74854994A	GRIN2C	NM_000835.6(GRIN2C):c.99C>T:p.Ala33=	coding	Benign
17	74862864	C	T	C74862864T	FDXR	NM_024417.5(FDXR):c.1429G>A:p.Glu477Lys	coding	Pathogenic
17	74862879	T	C	T74862879C	FDXR	NM_024417.5(FDXR):c.1414A>G:p.Thr472Ala	coding	Benign
17	74862937	T	C	T74862937C	FDXR	NM_024417.5(FDXR):c.1356A>G:p.Pro452=	coding	Benign
17	74863166	G	A	G74863166A	FDXR	NM_024417.5(FDXR):c.1255C>T:p.Gln419Ter	coding	Pathogenic
17	74863914	G	A	G74863914A	FDXR	NM_024417.5(FDXR):c.1156C>T:p.Arg386Trp	coding	Pathogenic
17	74863978	G	A	G74863978A	FDXR	NM_024417.5(FDXR):c.1092C>T:p.Ser364=	coding	Benign
17	74864036	G	A	G74864036A	FDXR	NM_024417.5(FDXR):c.1034C>T:p.Thr345Met	coding	Benign
17	74864140	A	G	A74864140G	FDXR	NM_024417.5(FDXR):c.1002+8T>C	noncoding	Benign
17	74864278	G	A	G74864278A	FDXR	NM_024417.5(FDXR):c.872C>T:p.Ala291Val	coding	Benign
17	74864898	G	C	G74864898C	FDXR	NM_024417.5(FDXR):c.643C>G:p.Leu215Val	coding	Pathogenic
17	74864935	G	C	G74864935C	FDXR	NM_024417.5(FDXR):c.610-4C>G	coding	Benign
17	74866471	T	C	T74866471C	FDXR	NM_024417.5(FDXR):c.368A>G:p.Gln123Arg	coding	Benign
17	74866908	C	T	C74866908T	FDXR	NM_024417.5(FDXR):c.178-32G>A	coding	Benign
17	74872944	T	C	T74872944C	FDXR	NM_024417.5(FDXR):c.1A>G:p.Met1Val	coding	Pathogenic
17	74916173	C	G	C74916173G	USH1G	NM_173477.5(USH1G):c.*1900G>C	noncoding	Benign
17	74916961	G	A	G74916961A	USH1G	NM_173477.5(USH1G):c.*1112C>T	noncoding	Benign
17	74917133	G	C	G74917133C	USH1G	NM_173477.5(USH1G):c.*940C>G	noncoding	Benign
17	74918010	G	A	G74918010A	USH1G	NM_173477.5(USH1G):c.*63C>T	noncoding	Benign
17	74919776	C	A	C74919776A	USH1G	NM_173477.5(USH1G):c.1060G>T:p.Asp354Tyr	coding	Pathogenic
17	74919824	C	T	C74919824T	USH1G	NM_173477.5(USH1G):c.1012G>A:p.Gly338Arg	coding	Benign/Likely_benign
17	74920325	C	A	C74920325A	USH1G	NM_173477.5(USH1G):c.511G>T:p.Glu171Ter	coding	Pathogenic
17	74920412	C	T	C74920412T	USH1G	NM_173477.5(USH1G):c.424G>A:p.Glu142Lys	coding	Benign
17	74920448	T	C	T74920448C	USH1G	NM_173477.5(USH1G):c.388A>G:p.Lys130Glu	coding	Benign
17	74922931	A	G	A74922931G	USH1G	NM_173477.5(USH1G):c.143T>C:p.Leu48Pro	coding	Pathogenic
17	74922961	C	T	C74922961T	USH1G	NM_173477.5(USH1G):c.113G>A:p.Trp38Ter	coding	Pathogenic
17	74930587	G	A	G74930587A	OTOP2	NM_178160.3(OTOP2):c.952G>A:p.Gly318Arg	coding	Benign
17	74933421	C	G	C74933421G	OTOP2	NM_178160.3(OTOP2):c.1565C>G:p.Thr522Arg	coding	Benign
17	74958904	G	A	G74958904A	HID1	NM_030630.3(HID1):c.1149+7C>T	noncoding	Benign
17	74962271	G	A	G74962271A	HID1	NM_030630.3(HID1):c.574C>T:p.His192Tyr	coding	Benign
17	74963081	G	C	G74963081C	HID1	NM_030630.3(HID1):c.388C>G:p.Gln130Glu	coding	Benign
17	75213120	G	A	G75213120A	NUP85	NM_024844.5(NUP85):c.405+1G>A	coding	Pathogenic
17	75238747	A	G	A75238747G	GGA3	NM_138619.4(GGA3):c.1966T>C:p.Leu656=	coding	Benign
17	75246732	C	T	C75246732T	GGA3	NM_138619.4(GGA3):c.105G>A:p.Gln35=	coding	Benign
17	75261905	C	T	C75261905T	MRPS7	NM_015971.4(MRPS7):c.5C>T:p.Ala2Val	coding	Benign
17	75262005	G	C	G75262005C	MRPS7	NM_015971.4(MRPS7):c.83+22G>C	noncoding	Benign
17	75262006	C	G	C75262006G	MRPS7	NM_015971.4(MRPS7):c.83+23C>G	noncoding	Benign
17	75262228	T	G	T75262228G	MRPS7	NM_015971.4(MRPS7):c.83+245T>G	noncoding	Benign
17	75262423	T	C	T75262423C	MRPS7	NM_015971.4(MRPS7):c.84-74T>C	noncoding	Benign
17	75263020	T	C	T75263020C	MRPS7	NM_015971.4(MRPS7):c.339+153T>C	noncoding	Benign
17	75273014	A	C	A75273014C	SLC25A19	NM_001126121.2(SLC25A19):c.*437T>G	noncoding	Benign
17	75273177	G	C	G75273177C	SLC25A19	NM_001126121.2(SLC25A19):c.*274C>G	noncoding	Benign
17	75273251	C	T	C75273251T	SLC25A19	NM_001126121.2(SLC25A19):c.*200G>A	noncoding	Benign
17	75273287	C	T	C75273287T	SLC25A19	NM_001126121.2(SLC25A19):c.*164G>A	noncoding	Benign
17	75273449	A	G	A75273449G	SLC25A19	NM_001126121.2(SLC25A19):c.*2T>C	noncoding	Benign
17	75273595	C	T	C75273595T	SLC25A19	NM_001126121.2(SLC25A19):c.819G>A:p.Leu273=	coding	Benign
17	75273640	C	G	C75273640G	SLC25A19	NM_001126121.2(SLC25A19):c.775-1G>C	coding	Pathogenic
17	75277222	G	C	G75277222C	SLC25A19	NM_001126121.2(SLC25A19):c.774+131C>G	noncoding	Benign
17	75278153	A	G	A75278153G	SLC25A19	NM_001126121.2(SLC25A19):c.642T>C:p.Asn214=	coding	Benign/Likely_benign
17	75278245	C	G	C75278245G	SLC25A19	NM_001126121.2(SLC25A19):c.550G>C:p.Ala184Pro	coding	Pathogenic
17	75278265	C	G	C75278265G	SLC25A19	NM_001126121.2(SLC25A19):c.530G>C:p.Gly177Ala	coding	Pathogenic
17	75278312	G	A	G75278312A	SLC25A19	NM_001126121.2(SLC25A19):c.483C>T:p.Ala161=	coding	Benign/Likely_benign
17	75278314	C	T	C75278314T	SLC25A19	NM_001126121.2(SLC25A19):c.481G>A:p.Ala161Thr	coding	Pathogenic
17	75283428	G	T	G75283428T	SLC25A19	NM_001126121.2(SLC25A19):c.454C>A:p.Pro152Thr	coding	Pathogenic
17	75283468	G	A	G75283468A	SLC25A19	NM_001126121.2(SLC25A19):c.414C>T:p.Pro138=	coding	Benign/Likely_benign
17	75283509	C	T	C75283509T	SLC25A19	NM_001126121.2(SLC25A19):c.373G>A:p.Gly125Ser	coding	Pathogenic
17	75283543	A	G	A75283543G	SLC25A19	NM_001126121.2(SLC25A19):c.339T>C:p.Tyr113=	coding	Benign
17	75286296	C	G	C75286296G	SLC25A19	NM_001126121.2(SLC25A19):c.288+8G>C	noncoding	Benign/Likely_benign
17	75286398	G	A	G75286398A	SLC25A19	NM_001126121.2(SLC25A19):c.194C>T:p.Ala65Val	coding	Pathogenic
17	75289380	A	C	A75289380C	SLC25A19	NM_001126121.2(SLC25A19):c.-155T>G	noncoding	Benign
17	75325960	G	A	G75325960A	GRB2	NM_002086.5(GRB2):c.237C>T:p.His79=	coding	Benign
17	75489265	G	C	G75489265C	TMEM94	NM_014738.6(TMEM94):c.765-1G>C	noncoding	Pathogenic
17	75491749	A	G	A75491749G	TMEM94	NM_014738.6(TMEM94):c.1445A>G:p.Asn482Ser	coding	Benign
17	75492477	C	T	C75492477T	TMEM94	NM_014738.6(TMEM94):c.1600C>T:p.Gln534Ter	coding	Pathogenic
17	75495289	C	T	C75495289T	TMEM94	NM_014738.6(TMEM94):c.2734C>T:p.Arg912Ter	coding	Pathogenic
17	75498936	G	A	G75498936A	TMEM94	NM_014738.6(TMEM94):c.3852G>A:p.Thr1284=	coding	Benign
17	75499087	G	A	G75499087A	TMEM94	NM_014738.6(TMEM94):c.3998+5G>A	noncoding	Pathogenic
17	75504207	G	T	G75504207T	CASKIN2	NM_020753.5(CASKIN2):c.1467+8C>A	noncoding	Benign
17	75516224	A	G	A75516224G	TSEN54	NC_000017.11:g.75516224A>G	noncoding	Benign
17	75516273	A	C	A75516273C	TSEN54	NC_000017.11:g.75516273A>C	noncoding	Benign
17	75516561	A	C	A75516561C	TSEN54	NM_207346.3(TSEN54):c.1A>C:p.Met1Leu	coding	Pathogenic
17	75516572	G	T	G75516572T	TSEN54	NM_207346.3(TSEN54):c.12G>T:p.Glu4Asp	coding	Benign
17	75516803	T	G	T75516803G	TSEN54	NM_207346.3(TSEN54):c.114T>G:p.His38Gln	coding	Benign
17	75516991	C	T	C75516991T	TSEN54	NM_207346.3(TSEN54):c.222-18C>T	noncoding	Benign
17	75517075	G	A	G75517075A	TSEN54	NM_207346.3(TSEN54):c.285+3G>A	noncoding	Benign
17	75517104	C	A	C75517104A	TSEN54	NM_207346.3(TSEN54):c.285+32C>A	noncoding	Benign
17	75517200	C	G	C75517200G	TSEN54	NM_207346.3(TSEN54):c.325C>G:p.Arg109Gly	coding	Benign
17	75517208	C	G	C75517208G	TSEN54	NM_207346.3(TSEN54):c.333C>G:p.Arg111=	coding	Benign
17	75517538	C	A	C75517538A	TSEN54	NM_207346.3(TSEN54):c.370-19C>A	noncoding	Benign
17	75517596	A	C	A75517596C	TSEN54	NM_207346.3(TSEN54):c.409A>C:p.Ile137Leu	coding	Benign
17	75517657	T	C	T75517657C	TSEN54	NM_207346.3(TSEN54):c.468+2T>C	noncoding	Pathogenic
17	75518863	A	G	A75518863G	TSEN54	NM_207346.3(TSEN54):c.469-132A>G	noncoding	Benign
17	75519086	C	T	C75519086T	TSEN54	NM_207346.3(TSEN54):c.521+39C>T	noncoding	Benign
17	75519156	A	G	A75519156G	TSEN54	NM_207346.3(TSEN54):c.521+109A>G	noncoding	Benign
17	75521455	G	A	G75521455A	TSEN54	NM_207346.3(TSEN54):c.568G>A:p.Val190Met	coding	Benign
17	75521668	A	C	A75521668C	TSEN54	NM_207346.3(TSEN54):c.624-37A>C	noncoding	Benign
17	75521674	A	G	A75521674G	TSEN54	NM_207346.3(TSEN54):c.624-31A>G	noncoding	Benign
17	75521696	G	A	G75521696A	TSEN54	NM_207346.3(TSEN54):c.624-9G>A	noncoding	Benign/Likely_benign
17	75521773	C	T	C75521773T	TSEN54	NM_207346.3(TSEN54):c.692C>T:p.Pro231Leu	coding	Benign/Likely_benign
17	75521848	G	A	G75521848A	TSEN54	NM_207346.3(TSEN54):c.767G>A:p.Gly256Asp	coding	Benign/Likely_benign
17	75522000	G	T	G75522000T	TSEN54	NM_207346.3(TSEN54):c.919G>T:p.Ala307Ser	coding	Pathogenic/Likely_pathogenic
17	75522040	C	T	C75522040T	TSEN54	NM_207346.3(TSEN54):c.959C>T:p.Pro320Leu	coding	Benign/Likely_benign
17	75522108	C	T	C75522108T	TSEN54	NM_207346.3(TSEN54):c.1027C>T:p.Gln343Ter	coding	Pathogenic
17	75522122	G	C	G75522122C	TSEN54	NM_207346.3(TSEN54):c.1041G>C:p.Lys347Asn	coding	Benign
17	75522198	C	T	C75522198T	TSEN54	NM_207346.3(TSEN54):c.1117C>T:p.Gln373Ter	coding	Pathogenic
17	75522201	C	G	C75522201G	TSEN54	NM_207346.3(TSEN54):c.1120C>G:p.Arg374Gly	coding	Benign/Likely_benign
17	75522203	G	C	G75522203C	TSEN54	NM_207346.3(TSEN54):c.1122G>C:p.Arg374=	coding	Benign
17	75522219	G	T	G75522219T	TSEN54	NM_207346.3(TSEN54):c.1138G>T:p.Glu380Ter	coding	Pathogenic
17	75522237	C	T	C75522237T	TSEN54	NM_207346.3(TSEN54):c.1156C>T:p.Gln386Ter	coding	Pathogenic
17	75522247	A	C	A75522247C	TSEN54	NM_207346.3(TSEN54):c.1166A>C:p.Gln389Pro	coding	Benign
17	75522482	G	C	G75522482C	TSEN54	NM_207346.3(TSEN54):c.1252+149G>C	noncoding	Benign
17	75523332	C	T	C75523332T	TSEN54	NM_207346.3(TSEN54):c.1310C>T:p.Ala437Val	coding	Benign
17	75523508	T	C	T75523508C	TSEN54	NM_207346.3(TSEN54):c.1314-155T>C	noncoding	Benign
17	75523677	C	G	C75523677G	TSEN54	NM_207346.3(TSEN54):c.1328C>G:p.Ser443Cys	coding	Benign/Likely_benign
17	75523717	C	T	C75523717T	TSEN54	NM_207346.3(TSEN54):c.1368C>T:p.Asp456=	coding	Benign/Likely_benign
17	75524278	C	G	C75524278G	TSEN54	NM_207346.3(TSEN54):c.1447C>G:p.Pro483Ala	coding	Benign
17	75524299	C	T	C75524299T	TSEN54	NM_207346.3(TSEN54):c.1468C>T:p.Arg490Trp	coding	Benign/Likely_benign
17	75524404	G	C	G75524404C	TSEN54	NM_207346.3(TSEN54):c.1573G>C:p.Gly525Arg	coding	Benign
17	75563372	C	T	C75563372T	LLGL2	NM_001031803.2(LLGL2):c.735C>T:p.Leu245=	coding	Benign
17	75569119	C	T	C75569119T	LLGL2	NM_001031803.2(LLGL2):c.1464C>T:p.Pro488=	coding	Benign
17	75570013	G	C	G75570013C	LLGL2	NM_001031803.2(LLGL2):c.1632G>C:p.Gln544His	coding	Benign
17	75570343	C	G	C75570343G	LLGL2	NM_001031803.2(LLGL2):c.1875-5C>G	noncoding	Benign
17	75570388	C	T	C75570388T	LLGL2	NM_001031803.2(LLGL2):c.1915C>T:p.Pro639Ser	coding	Benign
17	75571720	G	A	G75571720A	LLGL2	NM_001031803.2(LLGL2):c.2230G>A:p.Ala744Thr	coding	Benign
17	75571733	G	A	G75571733A	LLGL2	NM_001031803.2(LLGL2):c.2243G>A:p.Arg748His	coding	Benign
17	75573500	C	T	C75573500T	LLGL2	NM_001031803.2(LLGL2):c.2745C>T:p.Pro915=	coding	Benign
17	75574623	C	T	C75574623T	LLGL2	NM_001031803.2(LLGL2):c.3010C>T:p.Arg1004Cys	coding	Benign
17	75627617	G	A	G75627617A	RECQL5	NM_004259.7(RECQL5):c.2875+6C>T	noncoding	Benign
17	75627670	C	T	C75627670T	RECQL5	NM_004259.7(RECQL5):c.2828G>A:p.Arg943His	coding	Benign
17	75628979	G	A	G75628979A	RECQL5	NM_004259.7(RECQL5):c.2444C>T:p.Ser815Leu	coding	Benign
17	75629130	C	T	C75629130T	RECQL5	NM_004259.7(RECQL5):c.2293G>A:p.Ala765Thr	coding	Benign
17	75629151	G	A	G75629151A	RECQL5	NM_004259.7(RECQL5):c.2272C>T:p.His758Tyr	coding	Benign
17	75662971	T	C	T75662971C	RECQL5	NM_004259.7(RECQL5):c.279A>G:p.Leu93=	coding	Benign
17	75727227	T	C	T75727227C	ITGB4	NM_000213.5(ITGB4):c.112T>C:p.Cys38Arg	coding	Pathogenic
17	75727423	G	A	G75727423A	ITGB4	NM_000213.5(ITGB4):c.182G>A:p.Cys61Tyr	coding	Pathogenic
17	75727668	C	T	C75727668T	ITGB4	NM_000213.5(ITGB4):c.282C>T:p.Thr94=	coding	Benign/Likely_benign
17	75727853	T	C	T75727853C	ITGB4	NM_000213.5(ITGB4):c.467T>C:p.Leu156Pro	coding	Pathogenic
17	75728402	C	T	C75728402T	ITGB4	NM_000213.5(ITGB4):c.495C>T:p.Ser165=	coding	Benign/Likely_benign
17	75728420	T	C	T75728420C	ITGB4	NM_000213.5(ITGB4):c.513T>C:p.Phe171=	coding	Benign
17	75729400	C	T	C75729400T	ITGB4	NM_000213.5(ITGB4):c.702C>T:p.Gly234=	coding	Benign
17	75730369	C	T	C75730369T	ITGB4	NM_000213.5(ITGB4):c.867C>T:p.His289=	coding	Benign
17	75730928	G	A	G75730928A	ITGB4	NM_000213.5(ITGB4):c.1056G>A:p.Ser352=	coding	Benign
17	75731988	C	T	C75731988T	ITGB4	NM_000213.5(ITGB4):c.1377+15C>T	noncoding	Benign
17	75732219	G	T	G75732219T	ITGB4	NM_000213.5(ITGB4):c.1434G>T:p.Gln478His	coding	Benign/Likely_benign
17	75733568	G	A	G75733568A	ITGB4	NM_000213.5(ITGB4):c.1533G>A:p.Pro511=	coding	Benign/Likely_benign
17	75733579	G	A	G75733579A	ITGB4	NM_000213.5(ITGB4):c.1544G>A:p.Arg515His	coding	Benign
17	75736053	C	T	C75736053T	ITGB4	NM_000213.5(ITGB4):c.1660C>T:p.Arg554Ter	coding	Pathogenic
17	75736060	G	A	G75736060A	ITGB4	NM_000213.5(ITGB4):c.1667G>A:p.Arg556His	coding	Benign
17	75736077	T	C	T75736077C	ITGB4	NM_000213.5(ITGB4):c.1684T>C:p.Cys562Arg	coding	Pathogenic
17	75736347	G	A	G75736347A	ITGB4	NM_000213.5(ITGB4):c.1821G>A:p.Ser607=	coding	Benign
17	75736597	C	G	C75736597G	ITGB4	NM_000213.5(ITGB4):c.1893C>G:p.Ser631=	coding	Benign
17	75736628	G	A	G75736628A	ITGB4	NM_000213.5(ITGB4):c.1924G>A:p.Glu642Lys	coding	Benign
17	75737340	G	A	G75737340A	ITGB4	NM_000213.5(ITGB4):c.2009G>A:p.Arg670His	coding	Benign
17	75737539	C	A	C75737539A	ITGB4	NM_000213.5(ITGB4):c.2115C>A:p.Asp705Glu	coding	Benign
17	75737631	G	T	G75737631T	ITGB4	NM_000213.5(ITGB4):c.2207G>T:p.Cys736Phe	coding	Benign
17	75742408	C	T	C75742408T	ITGB4	NM_000213.5(ITGB4):c.2701C>T:p.Leu901Phe	coding	Benign
17	75742437	C	T	C75742437T	ITGB4	NM_000213.5(ITGB4):c.2730C>T:p.Ala910=	coding	Benign
17	75742470	C	A	C75742470A	ITGB4	NM_000213.5(ITGB4):c.2763C>A:p.Tyr921Ter	coding	Pathogenic
17	75742591	G	A	G75742591A	ITGB4	NM_000213.5(ITGB4):c.2792G>A:p.Gly931Asp	coding	Pathogenic
17	75742728	C	T	C75742728T	ITGB4	NM_000213.5(ITGB4):c.2929C>T:p.Arg977Cys	coding	Benign/Likely_benign
17	75750178	C	T	C75750178T	ITGB4	NM_000213.5(ITGB4):c.3384C>T:p.Gly1128=	coding	Benign
17	75750775	C	T	C75750775T	ITGB4	NM_000213.5(ITGB4):c.3570C>T:p.Cys1190=	coding	Benign
17	75750992	G	A	G75750992A	ITGB4	NM_000213.5(ITGB4):c.3674G>A:p.Arg1225His	coding	Pathogenic
17	75751047	G	A	G75751047A	ITGB4	NM_000213.5(ITGB4):c.3729G>A:p.Pro1243=	coding	Benign
17	75751112	G	A	G75751112A	ITGB4	NM_000213.5(ITGB4):c.3793+1G>A	coding	Pathogenic
17	75752221	C	T	C75752221T	ITGB4	NM_000213.5(ITGB4):c.3841C>T:p.Arg1281Trp	coding	Pathogenic
17	75752241	C	T	C75752241T	ITGB4	NM_000213.5(ITGB4):c.3861C>T:p.Asn1287=	coding	Benign/Likely_benign
17	75752371	G	C	G75752371C	ITGB4	NM_000213.5(ITGB4):c.3976+15G>C	noncoding	Benign
17	75752477	C	T	C75752477T	ITGB4	NM_000213.5(ITGB4):c.4008C>T:p.Asp1336=	coding	Benign/Likely_benign
17	75752562	G	A	G75752562A	ITGB4	NM_000213.5(ITGB4):c.4093G>A:p.Val1365Ile	coding	Benign
17	75754674	C	T	C75754674T	ITGB4	NM_000213.5(ITGB4):c.4417C>T:p.Leu1473=	coding	Benign
17	75754766	G	A	G75754766A	ITGB4	NM_000213.5(ITGB4):c.4509G>A:p.Ser1503=	coding	Benign/Likely_benign
17	75754778	C	G	C75754778G	GALK1;ITGB4	NM_000213.5(ITGB4):c.4521C>G:p.Pro1507=	coding	Benign
17	75755697	C	G	C75755697G	ITGB4	NM_000213.5(ITGB4):c.4559-4C>G	noncoding	Benign
17	75755785	G	A	G75755785A	ITGB4	NM_000213.5(ITGB4):c.4643G>A:p.Trp1548Ter	coding	Pathogenic
17	75756708	C	G	C75756708G	ITGB4	NM_000213.5(ITGB4):c.4902C>G:p.Ser1634=	coding	Benign
17	75756928	A	G	A75756928G	GALK1;ITGB4	NM_000213.5(ITGB4):c.5054-15A>G	noncoding	Benign
17	75756944	G	C	G75756944C	ITGB4	NM_000213.5(ITGB4):c.5055G>C:p.Gly1685=	coding	Benign/Likely_benign
17	75757422	T	C	T75757422C	GALK1;ITGB4	NM_000213.5(ITGB4):c.5336T>C:p.Leu1779Pro	coding	Benign
17	75757453	C	T	C75757453T	ITGB4	NM_000213.5(ITGB4):c.5367C>T:p.Gly1789=	coding	Benign/Likely_benign
17	75757494	G	A	G75757494A	ITGB4	NM_000213.5(ITGB4):c.5408G>A:p.Arg1803Gln	coding	Benign
17	75757580	C	T	C75757580T	ITGB4;GALK1	NM_000213.5(ITGB4):c.*25C>T	noncoding	Benign
17	75758068	C	T	C75758068T	GALK1	NM_000154.2(GALK1):c.1167G>A:p.Val389=	coding	Benign
17	75758091	G	A	G75758091A	GALK1	NM_000154.2(GALK1):c.1144C>T:p.Gln382Ter	coding	Pathogenic
17	75758116	G	A	G75758116A	GALK1;ITGB4	NM_000154.2(GALK1):c.1119C>T:p.Gly373=	coding	Benign/Likely_benign
17	75758205	C	T	C75758205T	GALK1	NM_000154.2(GALK1):c.1107+5G>A	noncoding	Benign/Likely_benign
17	75758330	C	T	C75758330T	GALK1	NM_000154.2(GALK1):c.987G>A:p.Val329=	coding	Benign/Likely_benign
17	75758360	C	T	C75758360T	GALK1	NM_000154.2(GALK1):c.957G>A:p.Glu319=	coding	Benign
17	75758459	G	A	G75758459A	GALK1	NM_000154.2(GALK1):c.934C>T:p.Arg312Cys	coding	Benign
17	75758536	C	T	C75758536T	GALK1	NM_000154.2(GALK1):c.857G>A:p.Arg286Gln	coding	Benign
17	75758553	G	A	G75758553A	GALK1	NM_000154.2(GALK1):c.840C>T:p.His280=	coding	Benign
17	75762731	G	A	G75762731A	GALK1	NM_000154.2(GALK1):c.766C>T:p.Arg256Trp	coding	Pathogenic
17	75762980	C	T	C75762980T	GALK1	NM_000154.2(GALK1):c.611+34G>A	noncoding	Benign
17	75763005	G	A	G75763005A	GALK1	NM_000154.2(GALK1):c.611+9C>T	noncoding	Benign
17	75763013	C	A	C75763013A	GALK1	NM_000154.2(GALK1):c.611+1G>T	noncoding	Pathogenic
17	75763954	C	A	C75763954A	GALK1	NM_000154.2(GALK1):c.298G>T:p.Glu100Ter	coding	Pathogenic
17	75764014	C	A	C75764014A	GALK1	NM_000154.2(GALK1):c.238G>T:p.Glu80Ter	coding	Pathogenic
17	75764063	C	T	C75764063T	GALK1	NM_000154.2(GALK1):c.189G>A:p.Leu63=	coding	Benign
17	75765055	G	T	G75765055T	GALK1	NM_000154.2(GALK1):c.82C>A:p.Pro28Thr	coding	Pathogenic
17	75817317	T	C	T75817317C	UNK	NM_001080419.3(UNK):c.1105-9T>C	noncoding	Benign
17	75818755	C	T	C75818755T	UNK	NM_001080419.3(UNK):c.1485C>T:p.Pro495=	coding	Benign
17	75827307	C	T	C75827307T	UNC13D	NM_199242.3(UNC13D):c.*658G>A	noncoding	Benign
17	75827639	G	A	G75827639A	UNC13D	NM_199242.2(UNC13D):c.*326C>T	noncoding	Benign
17	75827968	C	T	C75827968T	UNC13D	NM_199242.2(UNC13D):c.3270G>A:p.Pro1090=	coding	Benign
17	75827986	A	G	A75827986G	UNC13D	NM_199242.2(UNC13D):c.3252T>C:p.His1084=	coding	Benign
17	75828040	T	C	T75828040C	UNC13D	NM_199242.3(UNC13D):c.3198A>G:p.Glu1066=	coding	Benign
17	75830039	C	T	C75830039T	UNC13D	NM_199242.2(UNC13D):c.2943G>A:p.Glu981=	coding	Benign
17	75830086	G	A	G75830086A	UNC13D	NM_199242.2(UNC13D):c.2896C>T:p.Arg966Trp	coding	Benign/Likely_benign
17	75830325	G	C	G75830325C	UNC13D	NM_199242.2(UNC13D):c.2830+37C>G	noncoding	Benign
17	75830410	G	A	G75830410A	UNC13D	NM_199242.3(UNC13D):c.2782C>T:p.Arg928Cys	coding	Benign/Likely_benign
17	75830484	T	C	T75830484C	UNC13D;LOC112533672	NM_199242.2(UNC13D):c.2710-2A>G	noncoding	Pathogenic
17	75830530	G	A	G75830530A	UNC13D	NM_199242.2(UNC13D):c.2709+48C>T	noncoding	Benign
17	75830572	C	A	C75830572A	UNC13D	NM_199242.2(UNC13D):c.2709+6G>T	noncoding	Benign/Likely_benign
17	75830592	G	A	G75830592A	UNC13D	NM_199242.2(UNC13D):c.2695C>T:p.Arg899Ter	coding	Pathogenic
17	75831124	T	C	T75831124C	UNC13D	NM_199242.3(UNC13D):c.2599A>G:p.Lys867Glu	coding	Benign
17	75831153	A	C	A75831153C	UNC13D	NM_199242.2(UNC13D):c.2570T>G:p.Phe857Cys	coding	Pathogenic
17	75831297	G	A	G75831297A	UNC13D	NM_199242.2(UNC13D):c.2499C>T:p.Ala833=	coding	Benign
17	75834189	G	A	G75834189A	UNC13D	NM_199242.2(UNC13D):c.2299-46C>T	noncoding	Benign
17	75834310	G	A	G75834310A	UNC13D	NM_199242.2(UNC13D):c.2298+15C>T	noncoding	Benign/Likely_benign
17	75834330	C	A	C75834330A	UNC13D	NM_199242.2(UNC13D):c.2293G>T:p.Glu765Ter	coding	Pathogenic
17	75834411	G	A	G75834411A	UNC13D	NM_199242.3(UNC13D):c.2212C>T:p.Gln738Ter	coding	Pathogenic
17	75834657	G	C	G75834657C	UNC13D	NM_199242.2(UNC13D):c.2052C>G:p.Leu684=	coding	Benign/Likely_benign
17	75834909	A	G	A75834909G	UNC13D	NM_199242.2(UNC13D):c.1992+11T>C	noncoding	Benign
17	75834915	C	T	C75834915T	UNC13D	NM_199242.3(UNC13D):c.1992+5G>A	noncoding	Benign
17	75834935	G	A	G75834935A	UNC13D	NM_199242.2(UNC13D):c.1977C>T:p.Thr659=	coding	Benign
17	75835410	T	C	T75835410C	UNC13D	NM_199242.2(UNC13D):c.1847A>G:p.Glu616Gly	coding	Pathogenic
17	75835489	G	A	G75835489A	UNC13D	NM_199242.2(UNC13D):c.1768C>T:p.Gln590Ter	coding	Pathogenic
17	75835513	G	A	G75835513A	UNC13D	NM_199242.2(UNC13D):c.1744C>T:p.Leu582=	coding	Benign
17	75835577	A	G	A75835577G	UNC13D	NM_199242.2(UNC13D):c.1728-48T>C	noncoding	Benign
17	75835819	T	C	T75835819C	UNC13D	NM_199242.2(UNC13D):c.1596+36A>G	noncoding	Benign
17	75835854	C	G	C75835854G	UNC13D	NM_199242.2(UNC13D):c.1596+1G>C	noncoding	Pathogenic
17	75835872	G	A	G75835872A	UNC13D	NM_199242.2(UNC13D):c.1579C>T:p.Arg527Trp	coding	Benign/Likely_benign
17	75836084	A	T	A75836084T	UNC13D	NM_199242.2(UNC13D):c.1472T>A:p.Leu491Ter	coding	Pathogenic
17	75836294	A	G	A75836294G	UNC13D	NM_199242.2(UNC13D):c.1390-38T>C	noncoding	Benign
17	75836303	C	T	C75836303T	UNC13D	NM_199242.2(UNC13D):c.1389+36G>A	noncoding	Benign
17	75836338	C	T	C75836338T	UNC13D	NM_199242.2(UNC13D):c.1389+1G>A	noncoding	Pathogenic
17	75836655	G	C	G75836655C	UNC13D	NM_199242.3(UNC13D):c.1215C>G:p.Tyr405Ter	coding	Pathogenic
17	75836662	A	G	A75836662G	UNC13D	NM_199242.2(UNC13D):c.1208T>C:p.Leu403Pro	coding	Pathogenic
17	75836931	G	A	G75836931A	UNC13D	NM_199242.2(UNC13D):c.1056-13C>T	noncoding	Benign/Likely_benign
17	75840005	A	C	A75840005C	UNC13D	NM_199242.2(UNC13D):c.951+13T>G	noncoding	Benign
17	75840065	G	A	G75840065A	UNC13D	NM_199242.2(UNC13D):c.904C>T:p.Leu302Phe	coding	Benign
17	75840081	C	G	C75840081G	UNC13D	NM_199242.3(UNC13D):c.888G>C:p.Pro296=	coding	Benign
17	75840236	T	C	T75840236C	UNC13D	NM_199242.2(UNC13D):c.847A>G:p.Ile283Val	coding	Benign/Likely_benign
17	75840317	G	A	G75840317A	UNC13D	NM_199242.2(UNC13D):c.766C>T:p.Arg256Ter	coding	Pathogenic
17	75840360	G	A	G75840360A	UNC13D	NM_199242.2(UNC13D):c.754-31C>T	noncoding	Benign
17	75840506	C	A	C75840506A	UNC13D	NM_199242.2(UNC13D):c.753+1G>T	noncoding	Pathogenic
17	75842435	G	T	G75842435T	UNC13D	NM_199242.2(UNC13D):c.567C>A:p.Ile189=	coding	Benign
17	75842451	C	T	C75842451T	UNC13D	NM_199242.3(UNC13D):c.551G>A:p.Trp184Ter	coding	Pathogenic
17	75842482	G	A	G75842482A	UNC13D	NM_199242.2(UNC13D):c.520C>T:p.Gln174Ter	coding	Pathogenic
17	75843056	G	A	G75843056A	UNC13D	NM_199242.2(UNC13D):c.279C>T:p.Pro93=	coding	Benign
17	75843090	C	T	C75843090T	UNC13D	NM_199242.2(UNC13D):c.262-17G>A	noncoding	Benign
17	75843133	G	C	G75843133C	UNC13D	NM_199242.2(UNC13D):c.261+26C>G	noncoding	Benign
17	75843151	G	A	G75843151A	UNC13D	NM_199242.2(UNC13D):c.261+8C>T	noncoding	Benign
17	75843274	A	T	A75843274T	UNC13D	NM_199242.2(UNC13D):c.154-8T>A	noncoding	Benign/Likely_benign
17	75843285	C	T	C75843285T	UNC13D	NM_199242.2(UNC13D):c.154-19G>A	noncoding	Benign
17	75843827	G	A	G75843827A	UNC13D	NM_199242.2(UNC13D):c.118-308C>T	noncoding	Pathogenic
17	75844191	C	T	C75844191T	UNC13D	NM_199242.2(UNC13D):c.117+30G>A	noncoding	Benign
17	75844289	G	A	G75844289A	UNC13D	NM_199242.3(UNC13D):c.49C>T:p.Gln17Ter	coding	Pathogenic
17	75844486	C	T	C75844486T	UNC13D	NM_199242.2(UNC13D):c.-149G>A	noncoding	Benign
17	75844517	G	A	G75844517A	UNC13D	NM_199242.2(UNC13D):c.-180C>T	noncoding	Benign
17	75844587	G	A	G75844587A	UNC13D	NM_199242.2(UNC13D):c.-250C>T	noncoding	Benign
17	75844597	G	A	G75844597A	UNC13D	NM_199242.2(UNC13D):c.-260C>T	noncoding	Benign
17	75844693	G	A	G75844693A	UNC13D	NM_199242.2(UNC13D):c.-356C>T	noncoding	Benign
17	75846969	G	A	G75846969A	WBP2	NM_012478.4(WBP2):c.671C>T:p.Ala224Val	coding	Pathogenic
17	75847548	C	T	C75847548T	WBP2	NM_012478.4(WBP2):c.594G>A:p.Pro198=	coding	Benign
17	75847615	C	T	C75847615T	WBP2	NM_012478.4(WBP2):c.533-6G>A	noncoding	Benign
17	75847841	T	G	T75847841G	WBP2	NM_012478.4(WBP2):c.487A>C:p.Met163Leu	coding	Pathogenic
17	75847850	C	T	C75847850T	WBP2	NM_012478.4(WBP2):c.478G>A:p.Ala160Thr	coding	Pathogenic
17	75941584	T	C	T75941584C	ACOX1	NM_004035.7(ACOX1):c.*5164A>G	noncoding	Benign
17	75941624	T	C	T75941624C	ACOX1	NM_004035.7(ACOX1):c.*5124A>G	noncoding	Benign
17	75942452	G	T	G75942452T	ACOX1	NM_004035.7(ACOX1):c.*4296C>A	noncoding	Benign
17	75942805	G	A	G75942805A	ACOX1	NM_004035.7(ACOX1):c.*3943C>T	noncoding	Benign
17	75942876	C	T	C75942876T	ACOX1	NM_004035.7(ACOX1):c.*3872G>A	noncoding	Benign
17	75943771	G	A	G75943771A	ACOX1	NM_004035.7(ACOX1):c.*2977C>T	noncoding	Benign
17	75945874	G	A	G75945874A	ACOX1	NM_004035.7(ACOX1):c.*874C>T	noncoding	Benign
17	75946069	A	G	A75946069G	ACOX1	NM_004035.7(ACOX1):c.*679T>C	noncoding	Benign
17	75946094	T	C	T75946094C	ACOX1	NM_004035.7(ACOX1):c.*654A>G	noncoding	Benign
17	75946115	C	G	C75946115G	ACOX1	NM_004035.7(ACOX1):c.*633G>C	noncoding	Benign
17	75946274	C	T	C75946274T	ACOX1	NM_004035.7(ACOX1):c.*474G>A	noncoding	Benign
17	75948392	C	A	C75948392A	ACOX1	NM_004035.7(ACOX1):c.1794G>T:p.Leu598=	coding	Benign
17	75948415	G	A	G75948415A	ACOX1	NM_004035.7(ACOX1):c.1771C>T:p.Arg591Cys	coding	Benign/Likely_benign
17	75949559	A	G	A75949559G	ACOX1	NM_004035.7(ACOX1):c.1520T>C:p.Ile507Thr	coding	Benign
17	75949876	A	G	A75949876G	ACOX1	NM_004035.7(ACOX1):c.1320T>C:p.Asp440=	coding	Benign
17	75949894	G	A	G75949894A	ACOX1	NM_004035.7(ACOX1):c.1302C>T:p.Phe434=	coding	Benign
17	75951568	T	C	T75951568C	ACOX1	NM_004035.7(ACOX1):c.954A>G:p.Glu318=	coding	Benign/Likely_benign
17	75953429	C	T	C75953429T	ACOX1	NM_004035.7(ACOX1):c.944+22G>A	noncoding	Benign
17	75953459	G	C	G75953459C	ACOX1	NM_004035.7(ACOX1):c.936C>G:p.Ile312Met	coding	Benign
17	75953469	T	C	T75953469C	ACOX1	NM_004035.7(ACOX1):c.926A>G:p.Gln309Arg	coding	Pathogenic
17	75953474	C	T	C75953474T	ACOX1	NM_004035.7(ACOX1):c.921G>A:p.Arg307=	coding	Benign/Likely_benign
17	75953528	A	G	A75953528G	ACOX1	NM_004035.7(ACOX1):c.867T>C:p.Ala289=	coding	Benign
17	75953563	T	C	T75953563C	ACOX1	NM_004035.7(ACOX1):c.832A>G:p.Met278Val	coding	Pathogenic
17	75953591	C	T	C75953591T	ACOX1	NM_004035.7(ACOX1):c.804G>A:p.Pro268=	coding	Benign
17	75955895	C	T	C75955895T	ACOX1	NM_004035.7(ACOX1):c.591G>A:p.Gly197=	coding	Benign
17	75957458	C	T	C75957458T	ACOX1	NM_004035.7(ACOX1):c.538+1G>A	noncoding	Pathogenic
17	75957465	C	A	C75957465A	ACOX1	NM_004035.7(ACOX1):c.532G>T:p.Gly178Cys	coding	Pathogenic
17	75957555	G	A	G75957555A	ACOX1	NM_004035.7(ACOX1):c.442C>T:p.Arg148Ter	coding	Pathogenic
17	75978994	G	A	G75978994A	ACOX1	NM_004035.7(ACOX1):c.80C>T:p.Pro27Leu	coding	Benign/Likely_benign
17	75986292	C	T	C75986292T	TEN1	NM_001113324.3(TEN1):c.92+8C>T	noncoding	Benign
17	75991577	G	A	G75991577A	TEN1	NM_001113324.3(TEN1):c.204G>A:p.Gln68=	coding	Benign
17	76009079	C	A	C76009079A	EVPL	NM_001988.4(EVPL):c.4126G>T:p.Val1376Leu	coding	Benign
17	76021699	C	G	C76021699G	EVPL	NM_001988.4(EVPL):c.890G>C:p.Arg297Pro	coding	Benign
17	76023539	C	T	C76023539T	EVPL	NM_001988.4(EVPL):c.314G>A:p.Arg105Gln	coding	Benign
17	76076943	G	A	G76076943A	GALR2	NM_003857.4(GALR2):c.676G>A:p.Gly226Ser	coding	Benign
17	76077274	A	C	A76077274C	GALR2	NM_003857.4(GALR2):c.1007A>C:p.Glu336Ala	coding	Benign
17	76085726	C	T	C76085726T	EXOC7	NM_001013839.4(EXOC7):c.1567G>A:p.Ala523Thr	coding	Pathogenic
17	76086093	T	C	T76086093C	EXOC7	NM_001013839.4(EXOC7):c.1482A>G:p.Leu494=	coding	Benign
17	76091237	T	C	T76091237C	EXOC7	NM_001013839.4(EXOC7):c.809-2A>G	noncoding	Pathogenic
17	76137718	C	A	C76137718A	FOXJ1	NM_001454.4(FOXJ1):c.901G>T:p.Glu301Ter	coding	Pathogenic
17	76137793	G	A	G76137793A	FOXJ1	NM_001454.4(FOXJ1):c.826C>T:p.Gln276Ter	coding	Pathogenic
17	76152455	C	A	C76152455A	RNF157	NM_052916.3(RNF157):c.1821G>T:p.Thr607=	coding	Benign
17	76155315	C	A	C76155315A	RNF157	NM_052916.3(RNF157):c.1701G>T:p.Gly567=	coding	Benign
17	76158415	G	A	G76158415A	RNF157	NM_052916.3(RNF157):c.1391C>T:p.Pro464Leu	coding	Benign
17	76167779	C	T	C76167779T	RNF157	NM_052916.3(RNF157):c.315G>A:p.Lys105=	coding	Benign
17	76277994	G	C	G76277994C	QRICH2	NM_032134.2(QRICH2):c.4614C>G:p.Tyr1538Ter	coding	Pathogenic
17	76287204	G	C	G76287204C	QRICH2	NM_032134.2(QRICH2):c.3501C>G:p.Tyr1167Ter	coding	Pathogenic
17	76291192	G	A	G76291192A	QRICH2	NM_032134.2(QRICH2):c.3037C>T:p.Arg1013Ter	coding	Pathogenic
17	76304430	C	T	C76304430T	QRICH2	NM_032134.2(QRICH2):c.192G>A:p.Trp64Ter	coding	Pathogenic
17	76385986	G	C	G76385986C	SPHK1	NM_001142601.2(SPHK1):c.12G>C:p.Ala4=	coding	Benign
17	76386899	C	T	C76386899T	SPHK1	NM_001142601.2(SPHK1):c.468C>T:p.His156=	coding	Benign
17	76387028	T	C	T76387028C	SPHK1	NM_001142601.2(SPHK1):c.597T>C:p.Arg199=	coding	Benign
17	76387567	C	T	C76387567T	SPHK1	NM_001142601.2(SPHK1):c.1136C>T:p.Pro379Leu	coding	Benign
17	76396585	G	A	G76396585A	UBE2O	NM_022066.4(UBE2O):c.2352C>T:p.Ala784=	coding	Benign
17	76468754	C	T	C76468754T	AANAT	NM_001088.3(AANAT):c.8C>T:p.Thr3Met	coding	Benign
17	76469814	C	T	C76469814T	AANAT	NM_001088.3(AANAT):c.468C>T:p.Ala156=	coding	Benign
17	76469889	C	A	C76469889A	AANAT	NM_001088.3(AANAT):c.543C>A:p.Ile181=	coding	Benign
17	76470891	T	G	T76470891G	RHBDF2	NM_024599.5(RHBDF2):c.*742A>C	noncoding	Benign
17	76470922	T	C	T76470922C	RHBDF2	NM_024599.5(RHBDF2):c.*711A>G	noncoding	Benign
17	76470930	C	T	C76470930T	RHBDF2	NM_001005498.4(RHBDF2):c.*703G>A	noncoding	Benign
17	76470935	G	C	G76470935C	RHBDF2	NM_024599.5(RHBDF2):c.*698C>G	noncoding	Benign
17	76471014	T	C	T76471014C	RHBDF2	NM_024599.5(RHBDF2):c.*619A>G	noncoding	Benign
17	76471053	G	A	G76471053A	RHBDF2	NM_024599.5(RHBDF2):c.*580C>T	noncoding	Benign
17	76471082	C	A	C76471082A	RHBDF2	NM_024599.5(RHBDF2):c.*551G>T	noncoding	Benign
17	76471082	C	G	C76471082G	RHBDF2	NM_024599.5(RHBDF2):c.*551G>C	noncoding	Benign
17	76471082	C	T	C76471082T	RHBDF2	NM_024599.5(RHBDF2):c.*551G>A	noncoding	Benign
17	76471122	C	T	C76471122T	RHBDF2	NM_024599.5(RHBDF2):c.*511G>A	noncoding	Benign
17	76471435	C	T	C76471435T	RHBDF2	NM_024599.5(RHBDF2):c.*198G>A	noncoding	Benign
17	76471452	G	A	G76471452A	RHBDF2	NM_024599.5(RHBDF2):c.*181C>T	noncoding	Benign
17	76471517	C	T	C76471517T	RHBDF2	NM_024599.5(RHBDF2):c.*116G>A	noncoding	Benign
17	76471582	C	G	C76471582G	RHBDF2	NM_024599.5(RHBDF2):c.*51G>C	noncoding	Benign
17	76471752	C	T	C76471752T	RHBDF2	NM_024599.5(RHBDF2):c.2452G>A:p.Ala818Thr	coding	Benign
17	76471852	G	A	G76471852A	RHBDF2	NM_024599.5(RHBDF2):c.2352C>T:p.Ala784=	coding	Benign
17	76472679	T	C	T76472679C	RHBDF2	NM_001005498.4(RHBDF2):c.2064+7A>G	noncoding	Benign
17	76472838	C	T	C76472838T	RHBDF2	NM_001005498.4(RHBDF2):c.1912G>A:p.Val638Met	coding	Benign
17	76473007	A	G	A76473007G	RHBDF2	NM_001005498.4(RHBDF2):c.1908T>C:p.Ala636=	coding	Benign
17	76473078	G	A	G76473078A	RHBDF2	NM_024599.5(RHBDF2):c.1924C>T:p.Leu642=	coding	Benign
17	76473103	C	T	C76473103T	RHBDF2	NM_024599.5(RHBDF2):c.1899G>A:p.Val633=	coding	Benign
17	76473245	G	A	G76473245A	RHBDF2	NM_024599.5(RHBDF2):c.1896+7C>T	noncoding	Benign
17	76473697	T	C	T76473697C	RHBDF2	NM_024599.5(RHBDF2):c.1771A>G:p.Met591Val	coding	Benign
17	76473753	G	C	G76473753C	RHBDF2	NM_024599.5(RHBDF2):c.1726-11C>G	noncoding	Benign
17	76473827	A	G	A76473827G	RHBDF2	NM_024599.5(RHBDF2):c.1725+12T>C	noncoding	Benign
17	76473832	C	T	C76473832T	RHBDF2	NM_024599.5(RHBDF2):c.1725+7G>A	noncoding	Benign
17	76473878	G	A	G76473878A	RHBDF2	NM_024599.5(RHBDF2):c.1686C>T:p.Ser562=	coding	Benign
17	76474076	C	T	C76474076T	RHBDF2	NM_001005498.4(RHBDF2):c.1531G>A:p.Gly511Ser	coding	Benign
17	76474112	C	A	C76474112A	RHBDF2	NM_024599.5(RHBDF2):c.1582G>T:p.Asp528Tyr	coding	Benign/Likely_benign
17	76474121	T	C	T76474121C	RHBDF2	NM_024599.5(RHBDF2):c.1573A>G:p.Lys525Glu	coding	Benign
17	76474441	G	A	G76474441A	RHBDF2	NM_024599.5(RHBDF2):c.1483C>T:p.Arg495Trp	coding	Benign
17	76474457	G	T	G76474457T	RHBDF2	NM_024599.5(RHBDF2):c.1467C>A:p.Arg489=	coding	Benign
17	76474462	G	C	G76474462C	RHBDF2	NM_001005498.4(RHBDF2):c.1375C>G:p.Leu459Val	coding	Benign
17	76476916	G	A	G76476916A	RHBDF2	NM_024599.5(RHBDF2):c.1116C>T:p.Gly372=	coding	Benign
17	76476941	C	T	C76476941T	RHBDF2	NM_024599.5(RHBDF2):c.1091G>A:p.Arg364Gln	coding	Benign
17	76476996	C	T	C76476996T	RHBDF2	NM_024599.5(RHBDF2):c.1036G>A:p.Gly346Arg	coding	Benign
17	76477039	G	A	G76477039A	RHBDF2	NM_024599.5(RHBDF2):c.1008-15C>T	noncoding	Benign
17	76477247	C	T	C76477247T	RHBDF2	NM_001005498.4(RHBDF2):c.853G>A:p.Ala285Thr	coding	Benign
17	76477670	G	A	G76477670A	RHBDF2	NM_024599.5(RHBDF2):c.875C>T:p.Ser292Phe	coding	Benign
17	76477754	C	T	C76477754T	RHBDF2	NM_024599.5(RHBDF2):c.791G>A:p.Arg264Gln	coding	Benign
17	76477777	C	T	C76477777T	RHBDF2	NM_024599.5(RHBDF2):c.768G>A:p.Ser256=	coding	Benign
17	76478820	C	T	C76478820T	RHBDF2	NM_024599.5(RHBDF2):c.745G>A:p.Ala249Thr	coding	Benign
17	76478865	G	A	G76478865A	RHBDF2	NM_024599.5(RHBDF2):c.700C>T:p.Arg234Cys	coding	Benign
17	76478932	C	T	C76478932T	RHBDF2	NM_024599.5(RHBDF2):c.633G>A:p.Pro211=	coding	Benign
17	76478942	G	A	G76478942A	RHBDF2	NM_024599.5(RHBDF2):c.623C>T:p.Pro208Leu	coding	Benign
17	76478953	C	T	C76478953T	RHBDF2	NM_024599.5(RHBDF2):c.612G>A:p.Arg204=	coding	Benign
17	76478968	C	T	C76478968T	RHBDF2	NM_024599.5(RHBDF2):c.597G>A:p.Pro199=	coding	Benign
17	76478999	G	A	G76478999A	RHBDF2	NM_024599.5(RHBDF2):c.566C>T:p.Pro189Leu	coding	Pathogenic
17	76479008	A	G	A76479008G	RHBDF2	NM_024599.5(RHBDF2):c.557T>C:p.Ile186Thr	coding	Pathogenic
17	76479189	G	A	G76479189A	RHBDF2	NM_024599.5(RHBDF2):c.448C>T:p.Arg150Cys	coding	Benign
17	76479231	G	A	G76479231A	RHBDF2	NM_001005498.4(RHBDF2):c.319C>T:p.Arg107Trp	coding	Benign
17	76479236	C	T	C76479236T	RHBDF2	NM_024599.5(RHBDF2):c.401G>A:p.Gly134Glu	coding	Benign
17	76479273	C	T	C76479273T	RHBDF2	NM_024599.5(RHBDF2):c.364G>A:p.Ala122Thr	coding	Benign
17	76479766	C	T	C76479766T	RHBDF2	NM_024599.5(RHBDF2):c.326G>A:p.Arg109His	coding	Benign
17	76479767	G	A	G76479767A	RHBDF2	NM_001005498.4(RHBDF2):c.238C>T:p.Arg80Cys	coding	Benign
17	76479792	C	T	C76479792T	RHBDF2	NM_024599.5(RHBDF2):c.300G>A:p.Glu100=	coding	Benign
17	76479802	C	T	C76479802T	RHBDF2	NM_001005498.4(RHBDF2):c.203G>A:p.Arg68Gln	coding	Benign
17	76479834	C	T	C76479834T	RHBDF2	NM_001005498.4(RHBDF2):c.171G>A:p.Leu57=	coding	Benign
17	76479893	C	A	C76479893A	RHBDF2	NM_024599.5(RHBDF2):c.199G>T:p.Ala67Ser	coding	Benign
17	76481497	T	G	T76481497G	RHBDF2	NM_024599.5(RHBDF2):c.28A>C:p.Ser10Arg	coding	Benign
17	76481500	C	T	C76481500T	RHBDF2	NM_001005498.4(RHBDF2):c.25G>A:p.Gly9Arg	coding	Benign
17	76481538	C	T	C76481538T	RHBDF2	NM_024599.5(RHBDF2):c.-14G>A	noncoding	Benign
17	76487805	C	T	C76487805T	RHBDF2	NM_024599.5(RHBDF2):c.-115G>A	noncoding	Benign
17	76501405	G	T	G76501405T	RHBDF2	NM_024599.5(RHBDF2):c.-272C>A	noncoding	Benign
17	76501438	G	C	G76501438C	RHBDF2	NM_024599.5(RHBDF2):c.-305C>G	noncoding	Benign
17	76528584	C	T	C76528584T	CYGB	NM_134268.5(CYGB):c.567G>A:p.Gly189=	coding	Benign
17	76531128	G	T	G76531128T	CYGB	NM_134268.5(CYGB):c.390C>A:p.Val130=	coding	Benign
17	76540143	T	C	T76540143C	PRCD	NM_001077620.3(PRCD):c.2T>C:p.Met1Thr	coding	Pathogenic
17	76540146	G	A	G76540146A	PRCD	NM_001077620.3(PRCD):c.5G>A:p.Cys2Tyr	coding	Pathogenic
17	76540193	C	T	C76540193T	CYGB;PRCD	NM_001077620.3(PRCD):c.52C>T:p.Arg18Ter	coding	Pathogenic
17	76540205	C	T	C76540205T	PRCD	NM_001077620.3(PRCD):c.64C>T:p.Arg22Ter	coding	Pathogenic
17	76540214	C	A	C76540214A	PRCD	NM_001077620.3(PRCD):c.73C>A:p.Pro25Thr	coding	Pathogenic
17	76544410	C	T	C76544410T	PRCD	NM_001077620.3(PRCD):c.*760C>T	noncoding	Benign
17	76544835	A	C	A76544835C	PRCD	NM_001077620.3(PRCD):c.*1185A>C	noncoding	Benign
17	76545047	A	G	A76545047G	PRCD	NM_001077620.3(PRCD):c.*1397A>G	noncoding	Benign
17	76545055	C	T	C76545055T	PRCD	NM_001077620.3(PRCD):c.*1405C>T	noncoding	Benign
17	76545089	T	C	T76545089C	PRCD	NM_001077620.3(PRCD):c.*1439T>C	noncoding	Benign
17	76629224	T	G	T76629224G	ST6GALNAC1	NM_018414.5(ST6GALNAC1):c.619A>C:p.Thr207Pro	coding	Benign
17	76725508	G	A	G76725508A	JMJD6	NM_001081461.2(JMJD6):c.477C>T:p.Asp159=	coding	Benign
17	76733029	G	C	G76733029C	METTL23	NM_001080510.4(METTL23):c.136G>C:p.Glu46Gln	coding	Benign/Likely_benign
17	76733148	T	G	T76733148G	METTL23	NM_001080510.4(METTL23):c.255T>G:p.Ser85=	coding	Benign
17	76733367	C	T	C76733367T	METTL23	NM_001080510.4(METTL23):c.397C>T:p.Gln133Ter	coding	Pathogenic
17	76733609	G	A	G76733609A	METTL23	NM_001206987.2(METTL23):c.295G>A:p.Asp99Asn	coding	Benign
17	77196230	A	G	A77196230G	SEC14L1	NM_001143998.2(SEC14L1):c.738A>G:p.Arg246=	coding	Benign
17	77200679	G	A	G77200679A	SEC14L1	NM_001143998.2(SEC14L1):c.1009+6G>A	noncoding	Benign
17	77203586	C	T	C77203586T	SEC14L1	NM_001143998.2(SEC14L1):c.1026C>T:p.Tyr342=	coding	Benign
17	77203637	G	A	G77203637A	SEC14L1	NM_001143998.2(SEC14L1):c.1077G>A:p.Gly359=	coding	Benign
17	77209465	G	T	G77209465T	SEC14L1	NM_001143998.2(SEC14L1):c.1600G>T:p.Ala534Ser	coding	Benign
17	77213398	C	T	C77213398T	SEC14L1	NM_001143998.2(SEC14L1):c.1948C>T:p.Pro650Ser	coding	Benign
17	77307216	T	C	T77307216C	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+19T>C	noncoding	Benign
17	77319559	T	G	T77319559G	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12362T>G	coding	Benign
17	77319927	G	T	G77319927T	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12730G>T	coding	Benign
17	77320009	C	T	C77320009T	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12812C>T	coding	Benign
17	77320021	C	T	C77320021T	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12824C>T	coding	Benign
17	77320193	G	C	G77320193C	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12996G>C	coding	Pathogenic
17	77320246	A	G	A77320246G	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+13049A>G	coding	Benign
17	77373496	T	C	T77373496C	SEPTIN9	NM_001113491.2(SEPTIN9):c.77-28563T>C	coding	Benign
17	77402081	C	T	C77402081T	SEPTIN9	NM_001113491.2(SEPTIN9):c.99C>T:p.Val33=	coding	Benign
17	77402123	C	G	C77402123G	SEPTIN9	NM_001113491.2(SEPTIN9):c.141C>G:p.Val47=	coding	Benign
17	77402130	C	G	C77402130G	SEPTIN9	NM_001113491.2(SEPTIN9):c.148C>G:p.Pro50Ala	coding	Benign
17	77402183	C	T	C77402183T	SEPTIN9	NM_001113491.2(SEPTIN9):c.201C>T:p.Gly67=	coding	Benign
17	77402250	C	T	C77402250T	SEPTIN9	NM_001113491.2(SEPTIN9):c.268C>T:p.Leu90=	coding	Benign
17	77402259	G	T	G77402259T	SEPTIN9	NM_001113491.2(SEPTIN9):c.277G>T:p.Val93Leu	coding	Benign
17	77402298	C	T	C77402298T	SEPTIN9	NM_001113491.2(SEPTIN9):c.316C>T:p.Arg106Trp	coding	Pathogenic
17	77402304	A	G	A77402304G	SEPTIN9	NM_001113491.2(SEPTIN9):c.322A>G:p.Thr108Ala	coding	Benign
17	77402314	C	T	C77402314T	SEPTIN9	NM_001113491.2(SEPTIN9):c.332C>T:p.Ser111Phe	coding	Pathogenic
17	77402416	C	T	C77402416T	SEPTIN9	NM_001113491.2(SEPTIN9):c.434C>T:p.Pro145Leu	coding	Benign
17	77402424	C	T	C77402424T	SEPTIN9	NM_001113491.2(SEPTIN9):c.442C>T:p.Arg148Trp	coding	Benign
17	77402520	G	A	G77402520A	SEPTIN9	NM_001113491.2(SEPTIN9):c.538G>A:p.Ala180Thr	coding	Benign
17	77402561	C	G	C77402561G	SEPTIN9	NM_001113491.2(SEPTIN9):c.579C>G:p.Pro193=	coding	Benign/Likely_benign
17	77402582	C	T	C77402582T	SEPTIN9	NM_001113491.2(SEPTIN9):c.600C>T:p.Thr200=	coding	Benign/Likely_benign
17	77402669	C	T	C77402669T	SEPTIN9	NM_001113491.2(SEPTIN9):c.687C>T:p.Pro229=	coding	Benign
17	77402692	G	A	G77402692A	SEPTIN9	NM_001113491.2(SEPTIN9):c.710G>A:p.Arg237Gln	coding	Benign/Likely_benign
17	77405108	G	A	G77405108A	SEPTIN9	NM_001113491.2(SEPTIN9):c.721+2405G>A	coding	Benign
17	77482329	G	A	G77482329A	SEPTIN9	NM_001113491.2(SEPTIN9):c.907G>A:p.Val303Met	coding	Benign
17	77482334	C	T	C77482334T	SEPTIN9	NM_001113491.2(SEPTIN9):c.912C>T:p.Val304=	coding	Benign
17	77487420	C	T	C77487420T	SEPTIN9	NM_001113491.2(SEPTIN9):c.914-4C>T	noncoding	Benign
17	77487446	C	T	C77487446T	SEPTIN9	NM_001113491.2(SEPTIN9):c.936C>T:p.Ser312=	coding	Benign
17	77487551	C	T	C77487551T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1041C>T:p.His347=	coding	Benign
17	77487552	G	A	G77487552A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1042G>A:p.Asp348Asn	coding	Benign
17	77487562	C	T	C77487562T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1042+10C>T	noncoding	Benign
17	77488236	G	A	G77488236A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1043-4G>A	noncoding	Benign
17	77488260	C	T	C77488260T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1063C>T:p.Arg355Trp	coding	Benign
17	77488313	C	T	C77488313T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1116C>T:p.Asn372=	coding	Benign
17	77488717	C	T	C77488717T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-10C>T	noncoding	Benign/Likely_benign
17	77488722	C	T	C77488722T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-5C>T	noncoding	Benign
17	77488763	C	T	C77488763T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1161C>T:p.Tyr387=	coding	Benign/Likely_benign
17	77488850	C	T	C77488850T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1248C>T:p.Pro416=	coding	Benign
17	77490817	G	A	G77490817A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1338G>A:p.Ala446=	coding	Benign/Likely_benign
17	77492626	C	T	C77492626T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1386C>T:p.Thr462=	coding	Benign
17	77492638	G	A	G77492638A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1398G>A:p.Leu466=	coding	Benign/Likely_benign
17	77492686	G	A	G77492686A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1446G>A:p.Ser482=	coding	Benign
17	77492971	G	A	G77492971A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1477-9G>A	noncoding	Benign/Likely_benign
17	77493085	C	T	C77493085T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+9C>T	noncoding	Benign
17	77493086	G	A	G77493086A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+10G>A	noncoding	Benign/Likely_benign
17	77497305	C	T	C77497305T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1574-10C>T	noncoding	Benign
17	77497325	C	G	C77497325G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1584C>G:p.Thr528=	coding	Benign
17	77498596	G	A	G77498596A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1699G>A:p.Glu567Lys	coding	Benign
17	77498623	A	G	A77498623G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1726A>G:p.Met576Val	coding	Benign
17	77498649	G	A	G77498649A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1752G>A:p.Pro584=	coding	Benign
17	77498660	C	T	C77498660T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*2C>T	noncoding	Benign
17	77498664	A	G	A77498664G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*6A>G	noncoding	Benign
17	77498673	A	C	A77498673C	SEPTIN9	NM_001113491.2(SEPTIN9):c.*15A>C	noncoding	Benign
17	77498678	C	A	C77498678A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*20C>A	noncoding	Benign
17	77498698	A	T	A77498698T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*40A>T	noncoding	Benign
17	77498865	G	A	G77498865A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*207G>A	noncoding	Benign
17	77498918	C	T	C77498918T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*260C>T	noncoding	Benign
17	77498941	C	T	C77498941T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*283C>T	noncoding	Benign
17	77498983	T	C	T77498983C	SEPTIN9	NM_001113491.2(SEPTIN9):c.*325T>C	noncoding	Benign
17	77499031	G	A	G77499031A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*373G>A	noncoding	Benign
17	77499035	T	G	T77499035G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*377T>G	noncoding	Benign
17	77499112	G	A	G77499112A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*454G>A	noncoding	Benign
17	77499231	C	G	C77499231G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*573C>G	noncoding	Benign
17	77499236	G	T	G77499236T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*578G>T	noncoding	Benign
17	77499286	G	A	G77499286A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*628G>A	noncoding	Benign
17	77499305	G	A	G77499305A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*647G>A	noncoding	Benign
17	77499315	T	C	T77499315C	SEPTIN9	NM_001113491.2(SEPTIN9):c.*657T>C	noncoding	Benign
17	77499367	C	T	C77499367T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*709C>T	noncoding	Benign
17	77499376	C	G	C77499376G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*718C>G	noncoding	Benign
17	77499398	C	T	C77499398T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*740C>T	noncoding	Benign
17	77499422	C	G	C77499422G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*764C>G	noncoding	Benign
17	77499441	A	G	A77499441G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*783A>G	noncoding	Benign
17	77499447	G	A	G77499447A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*789G>A	noncoding	Benign
17	77499534	C	T	C77499534T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*876C>T	noncoding	Benign
17	77499597	A	G	A77499597G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*939A>G	noncoding	Benign
17	77499613	C	T	C77499613T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*955C>T	noncoding	Benign
17	77499693	G	A	G77499693A	SEPTIN9	NM_001113491.2(SEPTIN9):c.*1035G>A	noncoding	Benign
17	77499891	C	T	C77499891T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*1233C>T	noncoding	Benign
17	77500378	T	C	T77500378C	SEPTIN9	NM_001113491.2(SEPTIN9):c.*1720T>C	noncoding	Benign
17	77500554	A	G	A77500554G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*1896A>G	noncoding	Benign
17	77500558	A	G	A77500558G	SEPTIN9	NM_001113491.2(SEPTIN9):c.*1900A>G	noncoding	Benign
17	78113215	C	T	C78113215T	TMC6	NM_007267.7(TMC6):c.2355-4G>A	noncoding	Benign
17	78113538	G	A	G78113538A	TMC6	NM_007267.7(TMC6):c.2354+10C>T	noncoding	Benign
17	78117791	G	A	G78117791A	TMC6	NM_001127198.5(TMC6):c.2021+11C>T	noncoding	Benign
17	78119016	G	A	G78119016A	TMC6	NM_007267.7(TMC6):c.1842C>T:p.Pro614=	coding	Benign
17	78120776	C	T	C78120776T	TMC6	NM_007267.7(TMC6):c.1592G>A:p.Arg531His	coding	Benign
17	78120836	C	T	C78120836T	TMC6	NM_007267.7(TMC6):c.1536-4G>A	noncoding	Benign
17	78121043	G	A	G78121043A	TMC6	NM_007267.7(TMC6):c.1505C>T:p.Pro502Leu	coding	Benign
17	78121066	G	A	G78121066A	TMC6	NM_007267.7(TMC6):c.1482C>T:p.Ala494=	coding	Benign
17	78121077	G	A	G78121077A	TMC6	NM_007267.7(TMC6):c.1471C>T:p.Arg491Cys	coding	Benign
17	78121607	G	A	G78121607A	TMC6	NM_007267.7(TMC6):c.1332C>T:p.Thr444=	coding	Benign
17	78121663	C	T	C78121663T	TMC6	NM_007267.7(TMC6):c.1276G>A:p.Gly426Arg	coding	Benign
17	78121719	C	T	C78121719T	TMC6	NM_007267.7(TMC6):c.1228-8G>A	noncoding	Benign
17	78122686	G	A	G78122686A	TMC6	NM_007267.7(TMC6):c.1146C>T:p.Thr382=	coding	Benign
17	78124102	C	T	C78124102T	TMC6	NM_007267.7(TMC6):c.969G>A:p.Leu323=	coding	Benign
17	78124556	C	T	C78124556T	TMC6	NM_007267.7(TMC6):c.859G>A:p.Val287Ile	coding	Benign
17	78124557	G	A	G78124557A	TMC6	NM_007267.7(TMC6):c.858C>T:p.Pro286=	coding	Benign
17	78124577	C	T	C78124577T	TMC6	NM_007267.7(TMC6):c.838G>A:p.Ala280Thr	coding	Benign
17	78124711	T	C	T78124711C	TMC6	NM_007267.7(TMC6):c.704A>G:p.Lys235Arg	coding	Benign
17	78124749	G	A	G78124749A	TMC6	NM_007267.7(TMC6):c.666C>T:p.Ser222=	coding	Benign
17	78124912	G	A	G78124912A	TMC6	NM_007267.7(TMC6):c.610C>T:p.Arg204Trp	coding	Benign
17	78125237	G	A	G78125237A	TMC6	NM_001127198.5(TMC6):c.457C>T:p.Leu153Phe	coding	Benign
17	78125763	G	A	G78125763A	TMC6	NM_007267.7(TMC6):c.393C>T:p.Tyr131=	coding	Benign
17	78125783	A	G	A78125783G	TMC6	NM_001127198.5(TMC6):c.373T>C:p.Trp125Arg	coding	Benign
17	78125850	G	T	G78125850T	TMC6	NM_001127198.5(TMC6):c.306C>A:p.Tyr102Ter	coding	Pathogenic
17	78126518	G	A	G78126518A	TMC6	NM_007267.7(TMC6):c.181+6C>T	noncoding	Benign
17	78126549	C	T	C78126549T	TMC6	NM_007267.7(TMC6):c.156G>A:p.Leu52=	coding	Benign
17	78131729	C	G	C78131729G	TMC8	NM_007267.7(TMC6):c.-75+612G>C	coding	Benign
17	78131907	C	T	C78131907T	TMC8	NM_007267.7(TMC6):c.-75+434G>A	coding	Pathogenic
17	78132011	G	A	G78132011A	TMC8	NM_152468.5(TMC8):c.279G>A:p.Gly93=	coding	Benign
17	78132819	G	A	G78132819A	TMC8	NM_152468.5(TMC8):c.480G>A:p.Pro160=	coding	Benign
17	78133538	C	T	C78133538T	TMC8	NM_152468.4(TMC8):c.664C>T:p.Arg222Trp	coding	Benign
17	78133849	G	C	G78133849C	TMC8	NM_152468.4(TMC8):c.669-4G>C	noncoding	Benign
17	78134494	A	T	A78134494T	TMC8	NM_152468.5(TMC8):c.917A>T:p.Asn306Ile	coding	Benign
17	78134906	G	T	G78134906T	TMC8	NM_152468.4(TMC8):c.1024G>T:p.Gly342Trp	coding	Benign
17	78134989	G	A	G78134989A	TMC6	NM_152468.5(TMC8):c.1107G>A:p.Glu369=	coding	Benign
17	78137316	G	A	G78137316A	TMC8	NM_152468.4(TMC8):c.1209G>A:p.Lys403=	coding	Benign
17	78137997	C	T	C78137997T	TMC8	NM_152468.4(TMC8):c.1350-8C>T	noncoding	Benign
17	78138156	G	A	G78138156A	TMC8	NM_152468.4(TMC8):c.1501G>A:p.Val501Ile	coding	Benign
17	78138386	C	T	C78138386T	TMC8	NM_152468.4(TMC8):c.1571C>T:p.Pro524Leu	coding	Benign
17	78138444	T	C	T78138444C	TMC8	NM_152468.4(TMC8):c.1629T>C:p.Leu543=	coding	Benign
17	78138569	G	T	G78138569T	TMC8	NM_152468.4(TMC8):c.1665-5G>T	noncoding	Benign
17	78138595	C	T	C78138595T	TMC8	NM_152468.4(TMC8):c.1686C>T:p.Cys562=	coding	Benign
17	78138747	C	A	C78138747A	TMC8	NM_152468.5(TMC8):c.1823+15C>A	noncoding	Benign
17	78140913	C	T	C78140913T	TMC8	NM_152468.4(TMC8):c.1982C>T:p.Pro661Leu	coding	Benign
17	78174870	G	A	G78174870A	TK1	NM_003258.5(TK1):c.594C>T:p.Ala198=	coding	Benign
17	78425362	G	A	G78425362A	DNAH17	NM_173628.4(DNAH17):c.13125C>T:p.Tyr4375=	coding	Benign
17	78425383	C	T	C78425383T	DNAH17	NM_173628.4(DNAH17):c.13104G>A:p.Pro4368=	coding	Benign
17	78425386	A	G	A78425386G	DNAH17	NM_173628.4(DNAH17):c.13101T>C:p.Pro4367=	coding	Benign
17	78427016	G	A	G78427016A	DNAH17	NM_173628.4(DNAH17):c.12681C>T:p.Tyr4227=	coding	Benign
17	78427070	C	T	C78427070T	DNAH17	NM_173628.4(DNAH17):c.12627G>A:p.Pro4209=	coding	Benign
17	78437816	T	C	T78437816C	DNAH17	NM_173628.4(DNAH17):c.11858A>G:p.His3953Arg	coding	Benign
17	78437817	G	A	G78437817A	DNAH17	NM_173628.4(DNAH17):c.11857C>T:p.His3953Tyr	coding	Benign
17	78453423	G	C	G78453423C	DNAH17	NM_173628.4(DNAH17):c.10449C>G:p.Thr3483=	coding	Benign
17	78455761	C	T	C78455761T	DNAH17	NM_173628.4(DNAH17):c.10053G>A:p.Thr3351=	coding	Benign
17	78462862	C	T	C78462862T	DNAH17	NM_173628.4(DNAH17):c.9156G>A:p.Leu3052=	coding	Benign
17	78466688	G	A	G78466688A	DNAH17	NM_173628.4(DNAH17):c.8907C>T:p.Ser2969=	coding	Benign
17	78468667	G	A	G78468667A	DNAH17	NM_173628.4(DNAH17):c.8728C>T:p.Arg2910Trp	coding	Benign
17	78468765	G	T	G78468765T	DNAH17	NM_173628.4(DNAH17):c.8630C>A:p.Ala2877Asp	coding	Benign
17	78475284	G	A	G78475284A	DNAH17	NM_173628.4(DNAH17):c.8505C>T:p.Asp2835=	coding	Benign
17	78476686	G	A	G78476686A	DNAH17	NM_173628.4(DNAH17):c.8040C>T:p.Leu2680=	coding	Benign
17	78485611	C	G	C78485611G	DNAH17	NM_173628.4(DNAH17):c.7422G>C:p.Thr2474=	coding	Benign
17	78486350	A	G	A78486350G	DNAH17	NM_173628.4(DNAH17):c.6975T>C:p.Ile2325=	coding	Benign
17	78495045	T	C	T78495045C	DNAH17	NM_173628.4(DNAH17):c.5956A>G:p.Met1986Val	coding	Benign
17	78495046	G	C	G78495046C	DNAH17	NM_173628.4(DNAH17):c.5955C>G:p.Leu1985=	coding	Benign
17	78495112	G	A	G78495112A	DNAH17	NM_173628.4(DNAH17):c.5904-15C>T	noncoding	Benign
17	78500410	A	G	A78500410G	DNAH17	NM_173628.4(DNAH17):c.5535T>C:p.Pro1845=	coding	Benign
17	78500459	C	T	C78500459T	DNAH17	NM_173628.4(DNAH17):c.5486G>A:p.Cys1829Tyr	coding	Pathogenic
17	78501838	C	A	C78501838A	DNAH17	NM_173628.4(DNAH17):c.5226G>T:p.Met1742Ile	coding	Benign
17	78501848	G	A	G78501848A	DNAH17	NM_173628.4(DNAH17):c.5216C>T:p.Thr1739Met	coding	Benign
17	78502610	C	T	C78502610T	DNAH17	NM_173628.4(DNAH17):c.5171G>A:p.Arg1724Lys	coding	Benign
17	78506846	G	T	G78506846T	DNAH17	NM_173628.4(DNAH17):c.4677C>A:p.Ser1559Arg	coding	Benign
17	78507445	G	A	G78507445A	DNAH17	NM_173628.4(DNAH17):c.4584+13C>T	noncoding	Benign
17	78507478	C	A	C78507478A	DNAH17	NM_173628.4(DNAH17):c.4564G>T:p.Asp1522Tyr	coding	Benign
17	78507511	T	C	T78507511C	DNAH17	NM_173628.4(DNAH17):c.4531A>G:p.Thr1511Ala	coding	Benign
17	78507542	C	T	C78507542T	DNAH17	NM_173628.4(DNAH17):c.4500G>A:p.Glu1500=	coding	Benign
17	78525039	T	C	T78525039C	DNAH17	NM_173628.4(DNAH17):c.3834A>G:p.Leu1278=	coding	Benign
17	78526703	C	T	C78526703T	DNAH17	NM_173628.4(DNAH17):c.3659G>A:p.Arg1220His	coding	Benign
17	78529483	A	G	A78529483G	DNAH17	NM_173628.4(DNAH17):c.3496T>C:p.Leu1166=	coding	Benign
17	78529677	G	C	G78529677C	DNAH17	NM_173628.4(DNAH17):c.3302C>G:p.Ala1101Gly	coding	Benign
17	78532509	C	T	C78532509T	DNAH17	NM_173628.4(DNAH17):c.3087G>A:p.Pro1029=	coding	Benign
17	78532708	A	G	A78532708G	DNAH17	NM_173628.4(DNAH17):c.2888T>C:p.Ile963Thr	coding	Benign
17	78532749	G	A	G78532749A	DNAH17	NM_173628.4(DNAH17):c.2860-13C>T	noncoding	Benign
17	78539866	T	C	T78539866C	DNAH17	NM_173628.4(DNAH17):c.2547A>G:p.Leu849=	coding	Benign
17	78560729	C	T	C78560729T	DNAH17	NM_173628.4(DNAH17):c.2031+11G>A	noncoding	Benign
17	78561780	T	C	T78561780C	DNAH17	NM_173628.4(DNAH17):c.1770A>G:p.Lys590=	coding	Benign
17	78569259	G	A	G78569259A	DNAH17	NM_173628.4(DNAH17):c.1198-7C>T	noncoding	Benign
17	78798504	G	A	G78798504A	USP36	NM_001321291.1(USP36):c.3288C>T:p.Asn1096=	coding	Benign
17	78803535	C	G	C78803535G	USP36	NM_001321291.1(USP36):c.2660G>C:p.Arg887Pro	coding	Benign
17	78806238	G	T	G78806238T	USP36	NM_001321291.1(USP36):c.2134C>A:p.Pro712Thr	coding	Benign
17	78807115	C	T	C78807115T	USP36	NM_001321291.1(USP36):c.1929G>A:p.Thr643=	coding	Benign
17	78807608	G	A	G78807608A	USP36	NM_001321291.1(USP36):c.1436C>T:p.Pro479Leu	coding	Benign
17	78812937	C	T	C78812937T	USP36	NM_001321291.1(USP36):c.1330G>A:p.Gly444Ser	coding	Benign
17	78812938	G	A	G78812938A	USP36	NM_001321291.1(USP36):c.1329C>T:p.Pro443=	coding	Benign
17	78814538	C	T	C78814538T	USP36	NM_001321291.1(USP36):c.1038G>A:p.Pro346=	coding	Benign
17	78821009	G	A	G78821009A	USP36	NM_001321291.1(USP36):c.810C>T:p.Asp270=	coding	Benign
17	78828991	G	A	G78828991A	USP36	NM_001321291.1(USP36):c.492C>T:p.Phe164=	coding	Benign
17	78835332	G	A	G78835332A	USP36	NM_001321291.1(USP36):c.423C>T:p.Thr141=	coding	Benign
17	78835366	G	C	G78835366C	USP36	NM_001321291.1(USP36):c.389C>G:p.Thr130Ser	coding	Benign
17	78971723	G	A	G78971723A	LGALS3BP	NM_005567.4(LGALS3BP):c.1611C>T:p.Phe537=	coding	Benign
17	78972027	C	G	C78972027G	LGALS3BP	NM_005567.4(LGALS3BP):c.1307G>C:p.Arg436Pro	coding	Benign
17	78972227	G	A	G78972227A	LGALS3BP	NM_005567.4(LGALS3BP):c.1107C>T:p.His369=	coding	Benign
17	78972335	A	G	A78972335G	LGALS3BP	NM_005567.4(LGALS3BP):c.999T>C:p.Arg333=	coding	Benign
17	78974782	C	T	C78974782T	LGALS3BP	NM_005567.4(LGALS3BP):c.282G>A:p.Thr94=	coding	Benign
17	78991818	A	G	A78991818G	CANT1	NM_001159773.2(CANT1):c.*1732T>C	noncoding	Benign
17	78992074	C	T	C78992074T	CANT1	NM_001159773.2(CANT1):c.*1476G>A	noncoding	Benign
17	78992110	C	T	C78992110T	CANT1	NM_001159773.2(CANT1):c.*1440G>A	noncoding	Benign
17	78992401	G	A	G78992401A	CANT1	NM_001159773.2(CANT1):c.*1149C>T	noncoding	Benign
17	78992457	G	A	G78992457A	CANT1	NM_001159773.2(CANT1):c.*1093C>T	noncoding	Benign
17	78992494	A	G	A78992494G	CANT1	NM_001159773.2(CANT1):c.*1056T>C	noncoding	Benign
17	78992586	T	C	T78992586C	CANT1	NM_001159773.2(CANT1):c.*964A>G	noncoding	Benign
17	78992703	G	A	G78992703A	CANT1	NM_001159773.2(CANT1):c.*847C>T	noncoding	Benign
17	78992721	C	T	C78992721T	CANT1	NM_001159773.2(CANT1):c.*829G>A	noncoding	Benign
17	78992879	A	G	A78992879G	CANT1	NM_001159773.2(CANT1):c.*671T>C	noncoding	Benign
17	78992886	A	G	A78992886G	CANT1	NM_001159773.2(CANT1):c.*664T>C	noncoding	Benign
17	78992980	C	T	C78992980T	CANT1	NM_001159773.2(CANT1):c.*570G>A	noncoding	Benign
17	78993604	C	G	C78993604G	CANT1	NM_001159773.2(CANT1):c.1152G>C:p.Leu384=	coding	Benign/Likely_benign
17	78993622	C	T	C78993622T	CANT1	NM_001159773.2(CANT1):c.1134G>A:p.Thr378=	coding	Benign
17	78993633	T	A	T78993633A	CANT1	NM_001159773.2(CANT1):c.1123A>T:p.Met375Leu	coding	Benign/Likely_benign
17	78993677	G	T	G78993677T	CANT1	NM_001159773.2(CANT1):c.1079C>A:p.Ala360Asp	coding	Pathogenic
17	78993700	G	A	G78993700A	CANT1	NM_001159773.2(CANT1):c.1056C>T:p.Asn352=	coding	Benign
17	78993789	C	T	C78993789T	CANT1	NM_001159773.2(CANT1):c.967G>A:p.Ala323Thr	coding	Benign/Likely_benign
17	78993857	C	T	C78993857T	CANT1	NM_001159773.2(CANT1):c.899G>A:p.Arg300His	coding	Pathogenic
17	78993858	G	A	G78993858A	CANT1	NM_001159773.2(CANT1):c.898C>T:p.Arg300Cys	coding	Pathogenic
17	78993860	G	A	G78993860A	CANT1	NM_001159773.2(CANT1):c.896C>T:p.Pro299Leu	coding	Pathogenic
17	78995052	G	A	G78995052A	CANT1	NM_001159773.2(CANT1):c.801C>T:p.Asn267=	coding	Benign
17	78995177	C	T	C78995177T	CANT1	NM_001159773.2(CANT1):c.676G>A:p.Val226Met	coding	Pathogenic
17	78995182	A	G	A78995182G	CANT1	NM_001159773.2(CANT1):c.671T>C:p.Leu224Pro	coding	Pathogenic
17	78997112	T	A	T78997112A	CANT1	NM_001159773.2(CANT1):c.511A>T:p.Ile171Phe	coding	Pathogenic
17	78997164	G	A	G78997164A	CANT1	NM_001159773.2(CANT1):c.459C>T:p.Val153=	coding	Benign
17	78997248	C	G	C78997248G	CANT1	NM_001159773.2(CANT1):c.375G>C:p.Trp125Cys	coding	Pathogenic
17	78997249	C	T	C78997249T	CANT1	NM_001159773.2(CANT1):c.374G>A:p.Trp125Ter	coding	Pathogenic
17	78997425	G	A	G78997425A	CANT1	NM_001159773.2(CANT1):c.198C>T:p.Pro66=	coding	Benign/Likely_benign
17	78997429	G	A	G78997429A	CANT1	NM_001159773.2(CANT1):c.194C>T:p.Ala65Val	coding	Benign/Likely_benign
17	78997464	A	G	A78997464G	CANT1	NM_001159773.2(CANT1):c.159T>C:p.Ala53=	coding	Benign
17	78997815	C	T	C78997815T	CANT1	NM_001159773.2(CANT1):c.-23+25G>A	noncoding	Benign
17	79009663	C	T	C79009663T	CANT1	NM_001159773.2(CANT1):c.-147+1G>A	noncoding	Pathogenic
17	79009670	C	A	C79009670A	CANT1	NM_001159773.2(CANT1):c.-153G>T	noncoding	Benign
17	79009756	T	C	T79009756C	CANT1	NM_001159773.2(CANT1):c.-239A>G	noncoding	Benign
17	79047677	C	T	C79047677T	C1QTNF1	NM_030968.5(C1QTNF1):c.435C>T:p.Tyr145=	coding	Benign
17	79077838	C	T	C79077838T	ENGASE	NM_001042573.3(ENGASE):c.390C>T:p.Asp130=	coding	Benign
17	79079577	G	A	G79079577A	ENGASE	NM_001042573.3(ENGASE):c.505G>A:p.Val169Ile	coding	Benign
17	79085306	G	A	G79085306A	ENGASE	NM_001042573.3(ENGASE):c.1664G>A:p.Arg555His	coding	Benign
17	79094526	G	T	G79094526T	RBFOX3	NM_001082575.2(RBFOX3):c.861C>A:p.Tyr287Ter	coding	Pathogenic
17	79095504	C	A	C79095504A	RBFOX3	NM_001082575.2(RBFOX3):c.857+9G>T	noncoding	Benign
17	79095551	G	A	G79095551A	RBFOX3	NM_001082575.2(RBFOX3):c.819C>T:p.Tyr273=	coding	Benign
17	79097406	G	T	G79097406T	RBFOX3	NM_001082575.2(RBFOX3):c.641C>A:p.Pro214His	coding	Benign
17	79097428	C	A	C79097428A	RBFOX3	NM_001082575.2(RBFOX3):c.623-4G>T	noncoding	Benign
17	79101600	C	A	C79101600A	RBFOX3	NM_001082575.2(RBFOX3):c.552G>T:p.Gly184=	coding	Benign
17	79106690	G	A	G79106690A	RBFOX3	NM_001082575.2(RBFOX3):c.321C>T:p.Pro107=	coding	Benign
17	79783736	C	T	C79783736T	CBX2	NM_005189.3(CBX2):c.293C>T:p.Pro98Leu	coding	Pathogenic
17	79783785	G	A	G79783785A	CBX2	NM_005189.3(CBX2):c.342G>A:p.Thr114=	coding	Benign
17	79783872	G	A	G79783872A	CBX2	NM_005189.3(CBX2):c.429G>A:p.Pro143=	coding	Benign
17	79784020	C	A	C79784020A	CBX2	NM_005189.3(CBX2):c.577C>A:p.Leu193Met	coding	Benign
17	79784292	G	T	G79784292T	CBX2	NM_005189.3(CBX2):c.849G>T:p.Lys283Asn	coding	Benign
17	79784355	A	C	A79784355C	CBX2	NM_005189.3(CBX2):c.912A>C:p.Pro304=	coding	Benign
17	79784383	G	A	G79784383A	CBX2	NM_005189.3(CBX2):c.940G>A:p.Gly314Ser	coding	Benign
17	79784771	G	C	G79784771C	CBX2	NM_005189.3(CBX2):c.1328G>C:p.Arg443Pro	coding	Pathogenic
17	79784787	A	G	A79784787G	CBX2	NM_005189.3(CBX2):c.1344A>G:p.Glu448=	coding	Benign
17	79835682	C	G	C79835682G	CBX4	NM_003655.3(CBX4):c.210G>C:p.Arg70=	coding	Benign
17	79942171	G	A	G79942171A	TBC1D16	NM_019020.4(TBC1D16):c.1944C>T:p.Ile648=	coding	Benign
17	80010369	G	A	G80010369A	TBC1D16	NM_019020.4(TBC1D16):c.570C>T:p.Val190=	coding	Benign
17	80013482	G	T	G80013482T	TBC1D16	NM_019020.4(TBC1D16):c.66C>A:p.Pro22=	coding	Benign
17	80036614	C	A	C80036614A	CCDC40	NM_017950.3(CCDC40):c.-49C>A	noncoding	Benign
17	80036627	C	T	C80036627T	CCDC40	NM_017950.3(CCDC40):c.-36C>T	noncoding	Benign/Likely_benign
17	80038144	G	A	G80038144A	CCDC40	NM_017950.4(CCDC40):c.51G>A:p.Ser17=	coding	Benign
17	80038204	C	A	C80038204A	CCDC40	NM_017950.4(CCDC40):c.93+18C>A	noncoding	Benign
17	80039898	G	A	G80039898A	CCDC40	NM_017950.4(CCDC40):c.180G>A:p.Ala60=	coding	Benign/Likely_benign
17	80039925	G	C	G80039925C	CCDC40	NM_017950.4(CCDC40):c.207G>C:p.Val69=	coding	Benign
17	80040133	C	T	C80040133T	CCDC40	NM_017950.4(CCDC40):c.415C>T:p.Gln139Ter	coding	Pathogenic
17	80040142	C	T	C80040142T	CCDC40	NM_017950.4(CCDC40):c.424C>T:p.Gln142Ter	coding	Pathogenic
17	80040222	G	A	G80040222A	CCDC40	NM_017950.4(CCDC40):c.504G>A:p.Pro168=	coding	Benign
17	80040225	G	A	G80040225A	CCDC40	NM_017950.4(CCDC40):c.507G>A:p.Ser169=	coding	Benign
17	80047238	A	G	A80047238G	CCDC40	NM_017950.4(CCDC40):c.553-41A>G	noncoding	Benign
17	80047262	G	C	G80047262C	CCDC40	NM_017950.4(CCDC40):c.553-17G>C	noncoding	Benign
17	80047357	G	A	G80047357A	CCDC40	NM_017950.4(CCDC40):c.631G>A:p.Asp211Asn	coding	Benign/Likely_benign
17	80047374	C	T	C80047374T	CCDC40	NM_017950.4(CCDC40):c.648C>T:p.Asp216=	coding	Benign
17	80047415	T	C	T80047415C	CCDC40	NM_017950.4(CCDC40):c.676+13T>C	noncoding	Benign
17	80048579	C	G	C80048579G	CCDC40	NM_017950.4(CCDC40):c.677-4C>G	noncoding	Benign
17	80048762	G	A	G80048762A	CCDC40	NM_017950.4(CCDC40):c.855+1G>A	coding	Pathogenic/Likely_pathogenic
17	80048771	C	T	C80048771T	CCDC40	NM_017950.4(CCDC40):c.855+10C>T	noncoding	Benign
17	80049923	C	T	C80049923T	CCDC40	NM_017950.4(CCDC40):c.873C>T:p.Phe291=	coding	Benign
17	80050062	A	G	A80050062G	CCDC40	NM_017950.4(CCDC40):c.940-2A>G	noncoding	Pathogenic
17	80050063	G	C	G80050063C	CCDC40	NM_017950.4(CCDC40):c.940-1G>C	noncoding	Pathogenic
17	80050070	G	A	G80050070A	CCDC40	NM_017950.4(CCDC40):c.946G>A:p.Ala316Thr	coding	Benign
17	80050085	C	T	C80050085T	CCDC40	NM_017950.4(CCDC40):c.961C>T:p.Arg321Ter	coding	Pathogenic
17	80050247	A	C	A80050247C	CCDC40	NM_017950.4(CCDC40):c.1123A>C:p.Lys375Gln	coding	Benign
17	80050255	C	T	C80050255T	CCDC40	NM_017950.4(CCDC40):c.1131C>T:p.Cys377=	coding	Benign
17	80050256	G	A	G80050256A	CCDC40	NM_017950.4(CCDC40):c.1132G>A:p.Ala378Thr	coding	Benign
17	80050268	G	A	G80050268A	CCDC40	NM_017950.4(CCDC40):c.1144G>A:p.Glu382Lys	coding	Benign
17	80050295	C	T	C80050295T	CCDC40	NM_017950.4(CCDC40):c.1159+12C>T	noncoding	Benign
17	80058554	T	C	T80058554C	CCDC40	NM_017950.4(CCDC40):c.1220T>C:p.Ile407Thr	coding	Benign
17	80058610	G	T	G80058610T	CCDC40	NM_017950.4(CCDC40):c.1276G>T:p.Glu426Ter	coding	Pathogenic
17	80058637	G	A	G80058637A	CCDC40	NM_017950.4(CCDC40):c.1303G>A:p.Glu435Lys	coding	Benign
17	80058649	C	T	C80058649T	CCDC40	NM_017950.4(CCDC40):c.1315C>T:p.Gln439Ter	coding	Pathogenic
17	80058878	C	T	C80058878T	CCDC40	NM_017950.4(CCDC40):c.1338C>T:p.Leu446=	coding	Benign
17	80058885	C	T	C80058885T	CCDC40	NM_017950.4(CCDC40):c.1345C>T:p.Arg449Ter	coding	Pathogenic
17	80058912	G	A	G80058912A	CCDC40	NM_017950.4(CCDC40):c.1372G>A:p.Ala458Thr	coding	Benign/Likely_benign
17	80058981	G	C	G80058981C	CCDC40	NM_017950.4(CCDC40):c.1440+1G>C	coding	Pathogenic
17	80065467	C	G	C80065467G	CCDC40	NM_017950.4(CCDC40):c.1441-18C>G	noncoding	Benign
17	80065493	C	T	C80065493T	CCDC40	NM_017950.4(CCDC40):c.1449C>T:p.Thr483=	coding	Benign
17	80065510	G	T	G80065510T	CCDC40	NM_017950.4(CCDC40):c.1466G>T:p.Ser489Ile	coding	Benign
17	80065575	G	A	G80065575A	CCDC40	NM_017950.4(CCDC40):c.1531G>A:p.Glu511Lys	coding	Benign/Likely_benign
17	80065639	G	A	G80065639A	CCDC40	NM_017950.4(CCDC40):c.1562+33G>A	noncoding	Benign
17	80081797	C	T	C80081797T	CCDC40	NM_017950.4(CCDC40):c.1806+8C>T	noncoding	Benign
17	80081958	C	T	C80081958T	CCDC40	NM_017950.4(CCDC40):c.1889C>T:p.Ala630Val	coding	Benign
17	80081959	T	G	T80081959G	CCDC40	NM_017950.4(CCDC40):c.1890T>G:p.Ala630=	coding	Benign
17	80082020	C	T	C80082020T	CCDC40	NM_017950.4(CCDC40):c.1951C>T:p.Gln651Ter	coding	Pathogenic
17	80084814	G	A	G80084814A	CCDC40	NM_017950.4(CCDC40):c.2061G>A:p.Arg687=	coding	Benign
17	80086022	T	C	T80086022C	CCDC40	NM_017950.4(CCDC40):c.2255T>C:p.Leu752Pro	coding	Benign/Likely_benign
17	80086090	G	A	G80086090A	CCDC40	NM_017950.4(CCDC40):c.2323G>A:p.Val775Met	coding	Benign
17	80086103	G	A	G80086103A	CCDC40	NM_017950.4(CCDC40):c.2336G>A:p.Arg779His	coding	Benign/Likely_benign
17	80086207	C	T	C80086207T	CCDC40	NM_017950.4(CCDC40):c.2440C>T:p.Arg814Ter	coding	Pathogenic
17	80087754	A	G	A80087754G	CCDC40	NM_017950.4(CCDC40):c.2597A>G:p.Asn866Ser	coding	Pathogenic
17	80087761	C	T	C80087761T	CCDC40	NM_017950.4(CCDC40):c.2604C>T:p.Phe868=	coding	Benign
17	80087765	C	T	C80087765T	CCDC40	NM_017950.4(CCDC40):c.2608C>T:p.Arg870Cys	coding	Benign/Likely_benign
17	80087801	G	A	G80087801A	CCDC40	NM_017950.4(CCDC40):c.2619+25G>A	noncoding	Benign
17	80088038	C	T	C80088038T	CCDC40	NM_017950.4(CCDC40):c.2647C>T:p.Gln883Ter	coding	Pathogenic
17	80088062	G	T	G80088062T	CCDC40	NM_017950.4(CCDC40):c.2671G>T:p.Glu891Ter	coding	Pathogenic
17	80088073	G	A	G80088073A	CCDC40	NM_017950.4(CCDC40):c.2682G>A:p.Ala894=	coding	Benign
17	80089763	G	A	G80089763A	CCDC40	NM_017950.4(CCDC40):c.2712-1G>A	noncoding	Pathogenic
17	80089763	G	T	G80089763T	CCDC40	NM_017950.4(CCDC40):c.2712-1G>T	noncoding	Pathogenic/Likely_pathogenic
17	80089836	C	T	C80089836T	CCDC40	NM_017950.4(CCDC40):c.2784C>T:p.Ile928=	coding	Benign/Likely_benign
17	80089837	G	A	G80089837A	CCDC40	NM_017950.4(CCDC40):c.2785G>A:p.Gly929Ser	coding	Benign/Likely_benign
17	80089904	G	A	G80089904A	CCDC40	NM_017950.4(CCDC40):c.2832+20G>A	noncoding	Benign
17	80095298	G	A	G80095298A	CCDC40	NM_017950.4(CCDC40):c.2868G>A:p.Lys956=	coding	Benign
17	80095330	G	T	G80095330T	CCDC40	NM_017950.4(CCDC40):c.2900G>T:p.Arg967Leu	coding	Benign
17	80097197	C	T	C80097197T	CCDC40	NM_017950.4(CCDC40):c.3022-48C>T	noncoding	Benign
17	80097217	G	A	G80097217A	CCDC40	NM_017950.4(CCDC40):c.3022-28G>A	noncoding	Benign
17	80097253	T	C	T80097253C	GAA;CCDC40	NM_017950.4(CCDC40):c.3030T>C:p.Asp1010=	coding	Benign
17	80097289	A	G	A80097289G	CCDC40	NM_017950.4(CCDC40):c.3066A>G:p.Thr1022=	coding	Benign
17	80097320	A	T	A80097320T	CCDC40	NM_017950.4(CCDC40):c.3097A>T:p.Lys1033Ter	coding	Pathogenic
17	80097448	A	G	A80097448G	CCDC40	NM_017950.4(CCDC40):c.3180+45A>G	noncoding	Benign
17	80099556	A	G	A80099556G	GAA;CCDC40	NM_017950.4(CCDC40):c.3210A>G:p.Thr1070=	coding	Benign
17	80099686	G	A	G80099686A	GAA;CCDC40	NM_017950.4(CCDC40):c.3340G>A:p.Val1114Met	coding	Benign/Likely_benign
17	80099695	G	A	G80099695A	CCDC40	NM_017950.4(CCDC40):c.3349G>A:p.Glu1117Lys	coding	Benign/Likely_benign
17	80099700	C	A	C80099700A	CCDC40	NM_017950.4(CCDC40):c.3354C>A:p.Tyr1118Ter	coding	Pathogenic
17	80099754	C	T	C80099754T	CCDC40	NM_017950.4(CCDC40):c.3408C>T:p.Leu1136=	coding	Benign
17	80099763	A	G	A80099763G	GAA;CCDC40	NM_017950.4(CCDC40):c.3417A>G:p.Pro1139=	coding	Benign
17	80099770	T	C	T80099770C	CCDC40	NM_017950.4(CCDC40):c.3424T>C:p.Ser1142Pro	coding	Benign
17	80099790	T	C	T80099790C	GAA;CCDC40	NM_017950.4(CCDC40):c.*15T>C	noncoding	Benign
17	80099924	T	C	T80099924C	GAA;CCDC40	NM_017950.4(CCDC40):c.*149T>C	noncoding	Benign
17	80099961	A	C	A80099961C	GAA;CCDC40	NM_017950.4(CCDC40):c.*186A>C	noncoding	Benign
17	80100040	C	T	C80100040T	GAA;CCDC40	NM_017950.4(CCDC40):c.*265C>T	noncoding	Benign/Likely_benign
17	80100429	A	C	A80100429C	GAA;CCDC40	NM_017950.4(CCDC40):c.*654A>C	noncoding	Benign/Likely_benign
17	80104542	T	G	T80104542G	GAA	NM_000152.5(GAA):c.-32-13T>G	noncoding	Pathogenic
17	80104585	C	T	C80104585T	GAA	NM_000152.5(GAA):c.-2C>T	noncoding	Benign/Likely_benign
17	80104587	A	G	A80104587G	GAA	NM_000152.5(GAA):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
17	80104704	C	T	C80104704T	GAA	NM_000152.5(GAA):c.118C>T:p.Arg40Ter	coding	Pathogenic
17	80104734	G	T	G80104734T	GAA	NM_000152.5(GAA):c.148G>T:p.Glu50Ter	coding	Pathogenic
17	80104755	C	T	C80104755T	GAA	NM_000152.5(GAA):c.169C>T:p.Gln57Ter	coding	Pathogenic
17	80104758	C	T	C80104758T	GAA	NM_000152.5(GAA):c.172C>T:p.Gln58Ter	coding	Pathogenic
17	80104827	C	T	C80104827T	GAA	NM_000152.5(GAA):c.241C>T:p.Gln81Ter	coding	Pathogenic
17	80104844	C	A	C80104844A	GAA	NM_000152.5(GAA):c.258C>A:p.Pro86=	coding	Benign/Likely_benign
17	80104893	T	G	T80104893G	GAA	NM_000152.5(GAA):c.307T>G:p.Cys103Gly	coding	Pathogenic
17	80104910	T	C	T80104910C	GAA;CCDC40	NM_000152.5(GAA):c.324T>C:p.Cys108=	coding	Benign
17	80104937	G	A	G80104937A	GAA	NM_000152.5(GAA):c.351G>A:p.Leu117=	coding	Benign/Likely_benign
17	80104938	C	T	C80104938T	GAA	NM_000152.5(GAA):c.352C>T:p.Gln118Ter	coding	Pathogenic
17	80104954	G	A	G80104954A	GAA	NM_000152.5(GAA):c.368G>A:p.Gly123Glu	coding	Benign/Likely_benign
17	80104963	G	A	G80104963A	GAA	NM_000152.5(GAA):c.377G>A:p.Trp126Ter	coding	Pathogenic
17	80104964	G	A	G80104964A	GAA	NM_000152.5(GAA):c.378G>A:p.Trp126Ter	coding	Pathogenic
17	80104985	C	A	C80104985A	GAA	NM_000152.5(GAA):c.399C>A:p.Tyr133Ter	coding	Pathogenic
17	80105033	G	A	G80105033A	GAA	NM_000152.5(GAA):c.447G>A:p.Thr149=	coding	Benign/Likely_benign
17	80105132	G	A	G80105132A	GAA	NM_000152.5(GAA):c.546G>A:p.Thr182=	coding	Pathogenic
17	80105132	G	C	G80105132C	GAA	NM_000152.5(GAA):c.546G>C:p.Thr182=	coding	Pathogenic
17	80105150	G	A	G80105150A	GAA	NM_000152.5(GAA):c.546+18G>A	noncoding	Benign/Likely_benign
17	80105511	T	C	T80105511C	GAA	NM_000152.5(GAA):c.547-238T>C	noncoding	Benign
17	80105682	C	G	C80105682G	GAA	NM_000152.5(GAA):c.547-67C>G	noncoding	Benign
17	80105710	T	G	T80105710G	GAA	NM_000152.5(GAA):c.547-39T>G	noncoding	Benign
17	80105745	C	G	C80105745G	GAA	NM_000152.5(GAA):c.547-4C>G	noncoding	Benign
17	80105771	G	A	G80105771A	GAA	NM_000152.5(GAA):c.569G>A:p.Arg190His	coding	Pathogenic/Likely_pathogenic
17	80105775	C	A	C80105775A	GAA	NM_000152.5(GAA):c.573C>A:p.Tyr191Ter	coding	Pathogenic
17	80105798	A	G	A80105798G	GAA	NM_000152.5(GAA):c.596A>G:p.His199Arg	coding	Benign
17	80105844	C	T	C80105844T	GAA	NM_000152.5(GAA):c.642C>T:p.Ser214=	coding	Benign
17	80105845	G	T	G80105845T	GAA	NM_000152.5(GAA):c.643G>T:p.Glu215Ter	coding	Pathogenic
17	80105857	G	A	G80105857A	GAA	NM_000152.5(GAA):c.655G>A:p.Gly219Arg	coding	Pathogenic
17	80105866	G	A	G80105866A	GAA	NM_000152.5(GAA):c.664G>A:p.Val222Met	coding	Benign/Likely_benign
17	80105870	G	A	G80105870A	GAA	NM_000152.5(GAA):c.668G>A:p.Arg223His	coding	Benign
17	80105872	C	T	C80105872T	GAA	NM_000152.5(GAA):c.670C>T:p.Arg224Trp	coding	Pathogenic
17	80105895	G	A	G80105895A	GAA	NM_000152.5(GAA):c.692+1G>A	coding	Pathogenic
17	80105895	G	C	G80105895C	GAA	NM_000152.5(GAA):c.692+1G>C	coding	Pathogenic
17	80107508	C	T	C80107508T	GAA	NM_000152.5(GAA):c.693-49C>T	noncoding	Benign
17	80107627	C	T	C80107627T	GAA	NM_000152.5(GAA):c.763C>T:p.Gln255Ter	coding	Pathogenic
17	80107648	G	A	G80107648A	GAA	NM_000152.5(GAA):c.784G>A:p.Glu262Lys	coding	Pathogenic/Likely_pathogenic
17	80107716	G	A	G80107716A	GAA	NM_000152.5(GAA):c.852G>A:p.Ala284=	coding	Benign
17	80107730	G	A	G80107730A	GAA	NM_000152.5(GAA):c.858+8G>A	noncoding	Benign/Likely_benign
17	80107746	G	C	G80107746C	GAA	NM_000152.5(GAA):c.858+24G>C	noncoding	Benign
17	80107752	T	C	T80107752C	GAA	NM_000152.5(GAA):c.858+30T>C	noncoding	Benign
17	80107779	G	A	G80107779A	GAA	NM_000152.5(GAA):c.859-21G>A	noncoding	Benign
17	80107816	A	G	A80107816G	GAA	NM_000152.5(GAA):c.875A>G:p.Tyr292Cys	coding	Pathogenic/Likely_pathogenic
17	80107817	C	G	C80107817G	GAA	NM_000152.5(GAA):c.876C>G:p.Tyr292Ter	coding	Pathogenic
17	80107818	G	A	G80107818A	GAA	NM_000152.5(GAA):c.877G>A:p.Gly293Arg	coding	Pathogenic
17	80107837	T	C	T80107837C	GAA	NM_000152.5(GAA):c.896T>C:p.Leu299Pro	coding	Pathogenic
17	80107862	A	T	A80107862T	GAA	NM_000152.5(GAA):c.921A>T:p.Ala307=	coding	Benign
17	80107866	G	A	G80107866A	GAA	NM_000152.5(GAA):c.925G>A:p.Gly309Arg	coding	Pathogenic
17	80107897	G	A	G80107897A	GAA	NM_000152.5(GAA):c.955+1G>A	coding	Pathogenic
17	80107908	G	A	G80107908A	GAA	NM_000152.5(GAA):c.955+12G>A	noncoding	Benign
17	80108323	G	A	G80108323A	GAA	NM_000152.5(GAA):c.989G>A:p.Trp330Ter	coding	Pathogenic
17	80108337	G	A	G80108337A	GAA	NM_000152.5(GAA):c.1003G>A:p.Gly335Arg	coding	Pathogenic
17	80108338	G	A	G80108338A	GAA	NM_000152.5(GAA):c.1004G>A:p.Gly335Glu	coding	Pathogenic
17	80108398	T	C	T80108398C	GAA	NM_000152.5(GAA):c.1064T>C:p.Leu355Pro	coding	Pathogenic
17	80108409	G	T	G80108409T	GAA	NM_000152.5(GAA):c.1075G>T:p.Gly359Ter	coding	Pathogenic
17	80108422	C	T	C80108422T	GAA	NM_000152.5(GAA):c.1075+13C>T	noncoding	Benign/Likely_benign
17	80108467	T	G	T80108467G	GAA	NM_000152.5(GAA):c.1076-22T>G	noncoding	Pathogenic/Likely_pathogenic
17	80108495	C	T	C80108495T	GAA	NM_000152.5(GAA):c.1082C>T:p.Pro361Leu	coding	Pathogenic
17	80108513	G	A	G80108513A	GAA	NM_000152.5(GAA):c.1100G>A:p.Trp367Ter	coding	Pathogenic
17	80108528	A	T	A80108528T	GAA	NM_000152.5(GAA):c.1115A>T:p.His372Leu	coding	Pathogenic/Likely_pathogenic
17	80108537	G	T	G80108537T	GAA	NM_000152.5(GAA):c.1124G>T:p.Arg375Leu	coding	Pathogenic/Likely_pathogenic
17	80108542	G	C	G80108542C	GAA	NM_000152.5(GAA):c.1129G>C:p.Gly377Arg	coding	Pathogenic
17	80108569	C	T	C80108569T	GAA	NM_000152.5(GAA):c.1156C>T:p.Gln386Ter	coding	Pathogenic
17	80108606	T	C	T80108606C	GAA	NM_000152.5(GAA):c.1193T>C:p.Leu398Pro	coding	Pathogenic
17	80108705	G	A	G80108705A	GAA	NM_000152.5(GAA):c.1203G>A:p.Gln401=	coding	Benign
17	80108712	G	A	G80108712A	GAA	NM_000152.5(GAA):c.1210G>A:p.Asp404Asn	coding	Pathogenic
17	80108713	A	G	A80108713G	GAA	NM_000152.5(GAA):c.1211A>G:p.Asp404Gly	coding	Pathogenic
17	80108787	C	G	C80108787G	GAA	NM_000152.5(GAA):c.1285C>G:p.Gln429Glu	coding	Benign/Likely_benign
17	80108788	A	G	A80108788G	GAA	NM_000152.5(GAA):c.1286A>G:p.Gln429Arg	coding	Benign
17	80108811	C	T	C80108811T	GAA	NM_000152.5(GAA):c.1309C>T:p.Arg437Cys	coding	Pathogenic/Likely_pathogenic
17	80108818	T	A	T80108818A	GAA	NM_000152.5(GAA):c.1316T>A:p.Met439Lys	coding	Pathogenic/Likely_pathogenic
17	80108829	G	A	G80108829A	GAA	NM_000152.5(GAA):c.1326+1G>A	coding	Pathogenic
17	80109676	A	G	A80109676G	GAA	NM_000152.5(GAA):c.1327-269A>G	noncoding	Benign
17	80109766	G	A	G80109766A	GAA	NM_000152.5(GAA):c.1327-179G>A	noncoding	Benign
17	80109927	A	G	A80109927G	GAA	NM_000152.5(GAA):c.1327-18A>G	noncoding	Benign
17	80109943	A	G	A80109943G	GAA	NM_000152.5(GAA):c.1327-2A>G	noncoding	Pathogenic
17	80109961	G	C	G80109961C	GAA	NM_000152.5(GAA):c.1343G>C:p.Ser448Thr	coding	Benign/Likely_benign
17	80109992	C	T	C80109992T	GAA	NM_000152.5(GAA):c.1374C>T:p.Tyr458=	coding	Benign
17	80110050	G	A	G80110050A	GAA	NM_000152.5(GAA):c.1432G>A:p.Gly478Arg	coding	Pathogenic/Likely_pathogenic
17	80110055	G	A	G80110055A	GAA	NM_000152.5(GAA):c.1437G>A:p.Lys479=	coding	Pathogenic/Likely_pathogenic
17	80110056	G	A	G80110056A	GAA	NM_000152.5(GAA):c.1437+1G>A	coding	Pathogenic
17	80110057	T	C	T80110057C	GAA	NM_000152.5(GAA):c.1437+2T>C	noncoding	Pathogenic
17	80110507	A	G	A80110507G	GAA	NM_000152.5(GAA):c.1438-220A>G	noncoding	Benign
17	80110708	G	C	G80110708C	GAA	NM_000152.5(GAA):c.1438-19G>C	noncoding	Benign
17	80110725	A	G	A80110725G	GAA	NM_000152.5(GAA):c.1438-2A>G	noncoding	Pathogenic
17	80110726	G	C	G80110726C	GAA	NM_000152.5(GAA):c.1438-1G>C	noncoding	Pathogenic
17	80110730	T	C	T80110730C	GAA	NM_000152.5(GAA):c.1441T>C:p.Trp481Arg	coding	Pathogenic/Likely_pathogenic
17	80110734	C	T	C80110734T	GAA	NM_000152.5(GAA):c.1445C>T:p.Pro482Leu	coding	Pathogenic
17	80110735	C	T	C80110735T	GAA	NM_000152.5(GAA):c.1446C>T:p.Pro482=	coding	Benign/Likely_benign
17	80110754	G	A	G80110754A	GAA	NM_000152.5(GAA):c.1465G>A:p.Asp489Asn	coding	Pathogenic/Likely_pathogenic
17	80110785	G	A	G80110785A	GAA	NM_000152.5(GAA):c.1496G>A:p.Trp499Ter	coding	Pathogenic
17	80110827	A	G	A80110827G	GAA	NM_000152.5(GAA):c.1538A>G:p.Asp513Gly	coding	Pathogenic
17	80110837	G	A	G80110837A	GAA	NM_000152.5(GAA):c.1548G>A:p.Trp516Ter	coding	Pathogenic
17	80110841	G	C	G80110841C	GAA	NM_000152.5(GAA):c.1551+1G>C	coding	Pathogenic
17	80110841	G	T	G80110841T	GAA	NM_000152.5(GAA):c.1551+1G>T	coding	Pathogenic
17	80110882	G	A	G80110882A	GAA	NM_000152.5(GAA):c.1551+42G>A	noncoding	Benign
17	80110889	C	A	C80110889A	GAA	NM_000152.5(GAA):c.1551+49C>A	noncoding	Benign
17	80110938	C	G	C80110938G	GAA	NM_000152.5(GAA):c.1552-3C>G	noncoding	Pathogenic/Likely_pathogenic
17	80110953	C	G	C80110953G	GAA	NM_000152.5(GAA):c.1564C>G:p.Pro522Ala	coding	Pathogenic/Likely_pathogenic
17	80110970	G	A	G80110970A	GAA	NM_000152.5(GAA):c.1581G>A:p.Arg527=	coding	Benign
17	80110974	T	C	T80110974C	GAA	NM_000152.5(GAA):c.1585T>C:p.Ser529Pro	coding	Pathogenic
17	80111023	C	T	C80111023T	GAA	NM_000152.5(GAA):c.1634C>T:p.Pro545Leu	coding	Pathogenic
17	80111068	G	T	G80111068T	GAA	NM_000152.5(GAA):c.1636+43G>T	noncoding	Benign
17	80112001	T	C	T80112001C	GAA	NM_000152.5(GAA):c.1655T>C:p.Leu552Pro	coding	Pathogenic
17	80112003	C	T	C80112003T	GAA	NM_000152.5(GAA):c.1657C>T:p.Gln553Ter	coding	Pathogenic
17	80112033	C	T	C80112033T	GAA	NM_000152.5(GAA):c.1687C>T:p.Gln563Ter	coding	Pathogenic
17	80112071	C	A	C80112071A	GAA	NM_000152.5(GAA):c.1725C>A:p.Tyr575Ter	coding	Pathogenic
17	80112081	G	A	G80112081A	GAA	NM_000152.5(GAA):c.1735G>A:p.Glu579Lys	coding	Pathogenic
17	80112101	G	A	G80112101A	GAA	NM_000152.5(GAA):c.1754+1G>A	coding	Pathogenic
17	80112112	G	A	G80112112A	GAA	NM_000152.5(GAA):c.1754+12G>A	noncoding	Benign
17	80112577	G	A	G80112577A	GAA	NM_000152.5(GAA):c.1755-1G>A	noncoding	Pathogenic
17	80112604	G	A	G80112604A	GAA	NM_000152.5(GAA):c.1781G>A:p.Arg594His	coding	Pathogenic
17	80112621	C	T	C80112621T	GAA	NM_000152.5(GAA):c.1798C>T:p.Arg600Cys	coding	Pathogenic
17	80112622	G	A	G80112622A	GAA	NM_000152.5(GAA):c.1799G>A:p.Arg600His	coding	Pathogenic
17	80112625	C	A	C80112625A	GAA	NM_000152.5(GAA):c.1802C>A:p.Ser601Ter	coding	Pathogenic
17	80112625	C	T	C80112625T	GAA	NM_000152.5(GAA):c.1802C>T:p.Ser601Leu	coding	Pathogenic
17	80112645	C	T	C80112645T	GAA	NM_000152.5(GAA):c.1822C>T:p.Arg608Ter	coding	Pathogenic
17	80112664	C	A	C80112664A	GAA	NM_000152.5(GAA):c.1841C>A:p.Thr614Lys	coding	Pathogenic
17	80112666	G	A	G80112666A	GAA	NM_000152.5(GAA):c.1843G>A:p.Gly615Arg	coding	Pathogenic/Likely_pathogenic
17	80112679	G	A	G80112679A	GAA	NM_000152.5(GAA):c.1856G>A:p.Ser619Asn	coding	Pathogenic/Likely_pathogenic
17	80112732	G	A	G80112732A	GAA	NM_000152.5(GAA):c.1888+21G>A	noncoding	Benign
17	80112882	T	G	T80112882G	GAA	NM_000152.5(GAA):c.1895T>G:p.Leu632Arg	coding	Pathogenic
17	80112892	C	A	C80112892A	GAA	NM_000152.5(GAA):c.1905C>A:p.Asn635Lys	coding	Pathogenic
17	80112899	G	T	G80112899T	GAA	NM_000152.5(GAA):c.1912G>T:p.Gly638Trp	coding	Pathogenic
17	80112900	G	T	G80112900T	GAA	NM_000152.5(GAA):c.1913G>T:p.Gly638Val	coding	Pathogenic
17	80112914	G	A	G80112914A	GAA	NM_000152.5(GAA):c.1927G>A:p.Gly643Arg	coding	Pathogenic
17	80112920	G	A	G80112920A	GAA	NM_000152.5(GAA):c.1933G>A:p.Asp645Asn	coding	Pathogenic
17	80112920	G	C	G80112920C	GAA	NM_000152.5(GAA):c.1933G>C:p.Asp645His	coding	Pathogenic/Likely_pathogenic
17	80112922	C	A	C80112922A	GAA	NM_000152.5(GAA):c.1935C>A:p.Asp645Glu	coding	Pathogenic
17	80112928	C	G	C80112928G	GAA	NM_000152.5(GAA):c.1941C>G:p.Cys647Trp	coding	Pathogenic/Likely_pathogenic
17	80112929	G	A	G80112929A	GAA	NM_000152.5(GAA):c.1942G>A:p.Gly648Ser	coding	Pathogenic
17	80112965	C	T	C80112965T	GAA	NM_000152.5(GAA):c.1978C>T:p.Arg660Cys	coding	Pathogenic/Likely_pathogenic
17	80112966	G	A	G80112966A	GAA	NM_000152.5(GAA):c.1979G>A:p.Arg660His	coding	Pathogenic/Likely_pathogenic
17	80112999	T	G	T80112999G	GAA	NM_000152.5(GAA):c.2012T>G:p.Met671Arg	coding	Pathogenic
17	80113001	C	T	C80113001T	GAA	NM_000152.5(GAA):c.2014C>T:p.Arg672Trp	coding	Pathogenic
17	80113002	G	A	G80113002A	GAA	NM_000152.5(GAA):c.2015G>A:p.Arg672Gln	coding	Pathogenic/Likely_pathogenic
17	80113028	G	T	G80113028T	GAA	NM_000152.5(GAA):c.2040+1G>T	coding	Pathogenic/Likely_pathogenic
17	80113047	A	G	A80113047G	GAA	NM_000152.5(GAA):c.2040+20A>G	noncoding	Benign
17	80113096	A	G	A80113096G	GAA	NM_000152.5(GAA):c.2040+69A>G	noncoding	Benign
17	80113251	C	T	C80113251T	GAA	NM_000152.5(GAA):c.2074C>T:p.Gln692Ter	coding	Pathogenic
17	80113281	C	T	C80113281T	GAA	NM_000152.5(GAA):c.2104C>T:p.Arg702Cys	coding	Pathogenic/Likely_pathogenic
17	80113282	G	A	G80113282A	GAA	NM_000152.5(GAA):c.2105G>A:p.Arg702His	coding	Pathogenic/Likely_pathogenic
17	80113282	G	T	G80113282T	GAA	NM_000152.5(GAA):c.2105G>T:p.Arg702Leu	coding	Pathogenic/Likely_pathogenic
17	80113310	A	G	A80113310G	GAA	NM_000152.5(GAA):c.2133A>G:p.Thr711=	coding	Benign
17	80113350	C	T	C80113350T	GAA	NM_000152.5(GAA):c.2173C>T:p.Arg725Trp	coding	Pathogenic
17	80113365	G	T	G80113365T	GAA	NM_000152.5(GAA):c.2188G>T:p.Glu730Ter	coding	Pathogenic
17	80113629	G	A	G80113629A	GAA	NM_000152.5(GAA):c.2189+263G>A	noncoding	Benign
17	80116992	G	A	G80116992A	GAA	NM_000152.5(GAA):c.2214G>A:p.Trp738Ter	coding	Pathogenic
17	80117005	C	T	C80117005T	GAA	NM_000152.5(GAA):c.2227C>T:p.Gln743Ter	coding	Pathogenic/Likely_pathogenic
17	80117015	G	A	G80117015A	GAA	NM_000152.5(GAA):c.2237G>A:p.Trp746Ter	coding	Pathogenic
17	80117015	G	C	G80117015C	GAA	NM_000152.5(GAA):c.2237G>C:p.Trp746Ser	coding	Pathogenic/Likely_pathogenic
17	80117016	G	A	G80117016A	GAA	NM_000152.5(GAA):c.2238G>A:p.Trp746Ter	coding	Pathogenic
17	80117016	G	C	G80117016C	GAA	NM_000152.5(GAA):c.2238G>C:p.Trp746Cys	coding	Pathogenic/Likely_pathogenic
17	80117047	C	T	C80117047T	GAA	NM_000152.5(GAA):c.2269C>T:p.Gln757Ter	coding	Pathogenic
17	80117062	G	T	G80117062T	GAA	NM_000152.5(GAA):c.2284G>T:p.Glu762Ter	coding	Pathogenic
17	80117075	A	C	A80117075C	GAA	NM_000152.5(GAA):c.2297A>C:p.Tyr766Ser	coding	Pathogenic/Likely_pathogenic
17	80117111	T	A	T80117111A	GAA	NM_000152.5(GAA):c.2331+2T>A	noncoding	Pathogenic
17	80117129	G	A	G80117129A	GAA	NM_000152.5(GAA):c.2331+20G>A	noncoding	Benign
17	80117402	A	T	A80117402T	GAA	NM_000152.5(GAA):c.2332-198A>T	noncoding	Benign
17	80117606	G	A	G80117606A	GAA	NM_000152.5(GAA):c.2338G>A:p.Val780Ile	coding	Benign
17	80117668	C	T	C80117668T	GAA	NM_000152.5(GAA):c.2400C>T:p.Ser800=	coding	Benign/Likely_benign
17	80117714	G	A	G80117714A	GAA	NM_000152.5(GAA):c.2446G>A:p.Val816Ile	coding	Benign
17	80117746	G	A	G80117746A	GAA	NM_000152.5(GAA):c.2478G>A:p.Leu826=	coding	Benign/Likely_benign
17	80117747	C	T	C80117747T	GAA	NM_000152.5(GAA):c.2479C>T:p.Gln827Ter	coding	Pathogenic
17	80118223	C	T	C80118223T	GAA	NM_000152.5(GAA):c.2512C>T:p.Gln838Ter	coding	Pathogenic
17	80118264	G	A	G80118264A	GAA	NM_000152.5(GAA):c.2553G>A:p.Gly851=	coding	Benign
17	80118271	C	T	C80118271T	GAA	NM_000152.5(GAA):c.2560C>T:p.Arg854Ter	coding	Pathogenic
17	80118282	G	T	G80118282T	GAA	NM_000152.5(GAA):c.2571G>T:p.Leu857=	coding	Benign/Likely_benign
17	80118291	C	T	C80118291T	GAA	NM_000152.5(GAA):c.2580C>T:p.Asp860=	coding	Benign/Likely_benign
17	80118319	C	T	C80118319T	GAA	NM_000152.5(GAA):c.2608C>T:p.Arg870Ter	coding	Pathogenic
17	80118396	G	A	G80118396A	GAA	NM_000152.5(GAA):c.2646+39G>A	noncoding	Benign
17	80118645	C	T	C80118645T	GAA	NM_000152.5(GAA):c.2647-8C>T	noncoding	Benign/Likely_benign
17	80118646	G	A	G80118646A	GAA	NM_000152.5(GAA):c.2647-7G>A	noncoding	Pathogenic/Likely_pathogenic
17	80118668	G	T	G80118668T	GAA	NM_000152.5(GAA):c.2662G>T:p.Glu888Ter	coding	Pathogenic
17	80118674	G	C	G80118674C	GAA	NM_000152.5(GAA):c.2668G>C:p.Val890Leu	coding	Benign/Likely_benign
17	80118722	G	A	G80118722A	GAA	NM_000152.5(GAA):c.2716G>A:p.Val906Ile	coding	Pathogenic
17	80118786	C	T	C80118786T	GAA	NM_000152.5(GAA):c.2780C>T:p.Thr927Ile	coding	Benign
17	80119045	C	T	C80119045T	GAA	NM_000152.5(GAA):c.2800-227C>T	noncoding	Benign
17	80119334	G	A	G80119334A	GAA	NM_000152.5(GAA):c.*3G>A	noncoding	Benign
17	80119422	G	A	G80119422A	GAA	NM_000152.5(GAA):c.*91G>A	noncoding	Benign
17	80119554	C	T	C80119554T	GAA	NM_000152.5(GAA):c.*223C>T	noncoding	Benign
17	80119750	G	T	G80119750T	GAA	NM_000152.5(GAA):c.*419G>T	noncoding	Benign
17	80138142	C	T	C80138142T	EIF4A3	NM_014740.4(EIF4A3):c.867G>A:p.Lys289=	coding	Benign
17	80138200	T	C	T80138200C	EIF4A3	NM_014740.4(EIF4A3):c.809A>G:p.Asp270Gly	coding	Pathogenic
17	80141839	G	A	G80141839A	EIF4A3	NM_014740.4(EIF4A3):c.252C>T:p.Ser84=	coding	Benign
17	80146872	G	A	G80146872A	EIF4A3	NM_014740.4(EIF4A3):c.90C>T:p.Thr30=	coding	Benign
17	80146938	C	G	C80146938G	EIF4A3	NM_014740.4(EIF4A3):c.24G>C:p.Ala8=	coding	Benign
17	80181465	C	T	C80181465T	CARD14	NM_001366385.1(CARD14):c.27C>T:p.Ser9=	coding	Benign
17	80181623	G	A	G80181623A	CARD14	NM_001366385.1(CARD14):c.185G>A:p.Arg62Gln	coding	Benign
17	80182770	T	C	T80182770C	CARD14	NM_001366385.1(CARD14):c.329T>C:p.Val110Ala	coding	Benign
17	80182790	G	A	G80182790A	CARD14	NM_001366385.1(CARD14):c.349G>A:p.Gly117Ser	coding	Pathogenic
17	80182791	G	A	G80182791A	CARD14	NM_001366385.1(CARD14):c.349+1G>A	coding	Pathogenic
17	80182795	G	A	G80182795A	CARD14	NM_001366385.1(CARD14):c.349+5G>A	noncoding	Pathogenic
17	80182795	G	C	G80182795C	CARD14	NM_001366385.1(CARD14):c.349+5G>C	noncoding	Pathogenic
17	80183919	T	G	T80183919G	CARD14	NM_001366385.1(CARD14):c.356T>G:p.Met119Arg	coding	Pathogenic
17	80183934	T	C	T80183934C	CARD14	NM_001366385.1(CARD14):c.371T>C:p.Leu124Pro	coding	Pathogenic
17	80183941	G	A	G80183941A	CARD14	NM_001366385.1(CARD14):c.378G>A:p.Glu126=	coding	Benign
17	80183943	G	C	G80183943C	CARD14	NM_001366385.1(CARD14):c.380G>C:p.Cys127Ser	coding	Pathogenic
17	80183975	G	A	G80183975A	CARD14	NM_001366385.1(CARD14):c.412G>A:p.Glu138Lys	coding	Pathogenic
17	80183976	A	C	A80183976C	CARD14	NM_001366385.1(CARD14):c.413A>C:p.Glu138Ala	coding	Pathogenic
17	80183987	G	A	G80183987A	CARD14	NM_001366385.1(CARD14):c.424G>A:p.Glu142Lys	coding	Pathogenic
17	80183988	A	G	A80183988G	CARD14	NM_001366385.1(CARD14):c.425A>G:p.Glu142Gly	coding	Pathogenic
17	80184030	T	C	T80184030C	CARD14	NM_001366385.1(CARD14):c.467T>C:p.Leu156Pro	coding	Pathogenic
17	80184033	A	C	A80184033C	CARD14	NM_001366385.1(CARD14):c.470A>C:p.Gln157Pro	coding	Pathogenic
17	80184089	G	C	G80184089C	CARD14	NM_001366385.1(CARD14):c.526G>C:p.Asp176His	coding	Benign
17	80184162	G	A	G80184162A	CARD14	NM_001366385.1(CARD14):c.599G>A:p.Ser200Asn	coding	Benign
17	80184162	G	T	G80184162T	CARD14	NM_001366385.1(CARD14):c.599G>T:p.Ser200Ile	coding	Benign
17	80184196	G	A	G80184196A	CARD14	NM_001366385.1(CARD14):c.633G>A:p.Glu211=	coding	Benign
17	80188371	G	A	G80188371A	CARD14	NM_001366385.1(CARD14):c.676-6G>A	noncoding	Benign
17	80188410	A	C	A80188410C	CARD14	NM_001366385.1(CARD14):c.709A>C:p.Asn237His	coding	Benign
17	80188497	C	T	C80188497T	CARD14	NM_001366385.1(CARD14):c.796C>T:p.Arg266Cys	coding	Benign
17	80189840	C	A	C80189840A	CARD14	NM_001366385.1(CARD14):c.931C>A:p.Arg311=	coding	Benign
17	80189869	G	A	G80189869A	CARD14	NM_001366385.1(CARD14):c.960G>A:p.Glu320=	coding	Benign
17	80190875	C	T	C80190875T	CARD14	NM_001366385.1(CARD14):c.1065C>T:p.Cys355=	coding	Benign
17	80191324	C	T	C80191324T	CARD14	NM_001366385.1(CARD14):c.1091C>T:p.Ala364Val	coding	Benign
17	80191403	C	T	C80191403T	CARD14	NM_001366385.1(CARD14):c.1170C>T:p.Phe390=	coding	Benign
17	80192527	G	A	G80192527A	CARD14	NM_001366385.1(CARD14):c.1264G>A:p.Glu422Lys	coding	Benign
17	80195205	G	A	G80195205A	CARD14	NM_001366385.1(CARD14):c.1371G>A:p.Ser457=	coding	Benign
17	80195220	G	A	G80195220A	CARD14	NM_001366385.1(CARD14):c.1386G>A:p.Thr462=	coding	Benign
17	80195262	C	T	C80195262T	CARD14	NM_001366385.1(CARD14):c.1428C>T:p.Pro476=	coding	Benign
17	80195310	C	T	C80195310T	CARD14	NM_001366385.1(CARD14):c.1476C>T:p.Phe492=	coding	Benign
17	80195575	C	T	C80195575T	CARD14	NM_001366385.1(CARD14):c.1517C>T:p.Pro506Leu	coding	Benign
17	80198145	G	C	G80198145C	CARD14	NM_001366385.1(CARD14):c.1641G>C:p.Arg547Ser	coding	Benign
17	80198402	C	T	C80198402T	CARD14	NM_001366385.1(CARD14):c.1662C>T:p.Gly554=	coding	Benign
17	80198478	C	T	C80198478T	CARD14	NM_001366385.1(CARD14):c.1738C>T:p.Leu580=	coding	Benign
17	80198512	C	T	C80198512T	CARD14	NM_001366385.1(CARD14):c.1772C>T:p.Thr591Met	coding	Benign/Likely_benign
17	80198529	C	T	C80198529T	CARD14	NM_001366385.1(CARD14):c.1789C>T:p.Arg597Trp	coding	Benign
17	80198546	G	A	G80198546A	CARD14	NM_001366385.1(CARD14):c.1806G>A:p.Ser602=	coding	Benign
17	80201809	C	T	C80201809T	CARD14	NM_001366385.1(CARD14):c.1917C>T:p.Ala639=	coding	Benign
17	80202245	C	T	C80202245T	CARD14	NM_001366385.1(CARD14):c.2044C>T:p.Arg682Trp	coding	Benign
17	80202394	G	A	G80202394A	CARD14	NM_001366385.1(CARD14):c.2193G>A:p.Ala731=	coding	Benign
17	80202434	T	A	T80202434A	CARD14	NM_001366385.1(CARD14):c.2219+14T>A	coding	Benign
17	80203869	G	A	G80203869A	CARD14	NM_001366385.1(CARD14):c.2267G>A:p.Cys756Tyr	coding	Benign
17	80204278	G	A	G80204278A	CARD14	NM_001366385.1(CARD14):c.2335G>A:p.Ala779Thr	coding	Benign
17	80205031	A	G	A80205031G	CARD14	NM_001366385.1(CARD14):c.2399-4A>G	noncoding	Benign
17	80205039	C	T	C80205039T	CARD14	NM_001366385.1(CARD14):c.2403C>T:p.Ser801=	coding	Benign
17	80205045	G	A	G80205045A	CARD14	NM_001366385.1(CARD14):c.2409G>A:p.Thr803=	coding	Benign
17	80205094	C	T	C80205094T	CARD14	NM_001366385.1(CARD14):c.2458C>T:p.Arg820Trp	coding	Benign
17	80205132	C	T	C80205132T	CARD14	NM_001366385.1(CARD14):c.2496C>T:p.Leu832=	coding	Benign
17	80205609	G	A	G80205609A	CARD14	NM_001366385.1(CARD14):c.2648G>A:p.Arg883His	coding	Benign
17	80207041	C	T	C80207041T	CARD14	NM_001366385.1(CARD14):c.2763C>T:p.Ile921=	coding	Benign
17	80207050	C	T	C80207050T	CARD14	NM_001366385.1(CARD14):c.2772C>T:p.His924=	coding	Benign
17	80207053	C	T	C80207053T	CARD14	NM_001366385.1(CARD14):c.2775C>T:p.Val925=	coding	Benign
17	80207095	C	T	C80207095T	CARD14	NM_001366385.1(CARD14):c.2807+10C>T	noncoding	Benign
17	80208152	G	A	G80208152A	CARD14	NM_001366385.1(CARD14):c.2822G>A:p.Arg941Gln	coding	Benign
17	80208159	C	T	C80208159T	CARD14	NM_001366385.1(CARD14):c.2829C>T:p.Gly943=	coding	Benign
17	80208183	G	A	G80208183A	CARD14	NM_001366385.1(CARD14):c.2853G>A:p.Glu951=	coding	Benign
17	80208189	G	A	G80208189A	CARD14	NM_001366385.1(CARD14):c.2859G>A:p.Ala953=	coding	Benign
17	80208215	G	A	G80208215A	CARD14	NM_001366385.1(CARD14):c.2885G>A:p.Arg962Gln	coding	Benign
17	80208249	C	G	C80208249G	CARD14	NM_001366385.1(CARD14):c.2919C>G:p.Asp973Glu	coding	Benign
17	80209597	A	G	A80209597G	SGSH	NM_000199.5(SGSH):c.*855T>C	noncoding	Benign
17	80209604	G	C	G80209604C	SGSH	NM_000199.5(SGSH):c.*848C>G	noncoding	Benign
17	80209612	T	C	T80209612C	SGSH	NM_000199.5(SGSH):c.*840A>G	noncoding	Benign
17	80209619	T	C	T80209619C	SGSH	NM_000199.5(SGSH):c.*833A>G	noncoding	Benign
17	80210037	T	C	T80210037C	SGSH	NM_000199.5(SGSH):c.*415A>G	noncoding	Benign
17	80210137	G	A	G80210137A	SGSH	NM_000199.5(SGSH):c.*315C>T	noncoding	Benign
17	80210251	T	A	T80210251A	SGSH	NM_000199.5(SGSH):c.*201A>T	noncoding	Benign
17	80210533	G	A	G80210533A	SGSH	NM_000199.5(SGSH):c.1428C>T:p.His476=	coding	Benign
17	80210594	C	T	C80210594T	SGSH	NM_000199.5(SGSH):c.1367G>A:p.Arg456His	coding	Benign
17	80210622	C	T	C80210622T	SGSH	NM_000199.5(SGSH):c.1339G>A:p.Glu447Lys	coding	Pathogenic/Likely_pathogenic
17	80210663	C	T	C80210663T	SGSH	NM_000199.5(SGSH):c.1298G>A:p.Arg433Gln	coding	Pathogenic/Likely_pathogenic
17	80210664	G	A	G80210664A	SGSH	NM_000199.5(SGSH):c.1297C>T:p.Arg433Trp	coding	Pathogenic/Likely_pathogenic
17	80210779	C	A	C80210779A	SGSH	NM_000199.5(SGSH):c.1182G>T:p.Met394Ile	coding	Benign
17	80210795	T	C	T80210795C	SGSH	NM_000199.5(SGSH):c.1166A>G:p.Asn389Ser	coding	Pathogenic/Likely_pathogenic
17	80210802	C	T	C80210802T	SGSH	NM_000199.5(SGSH):c.1159G>A:p.Val387Met	coding	Benign
17	80210822	T	C	T80210822C	SGSH	NM_000199.5(SGSH):c.1139A>G:p.Gln380Arg	coding	Pathogenic
17	80210832	G	A	G80210832A	SGSH	NM_000199.5(SGSH):c.1129C>T:p.Arg377Cys	coding	Pathogenic
17	80210845	C	T	C80210845T	SGSH	NM_000199.5(SGSH):c.1116G>A:p.Met372Ile	coding	Benign
17	80210856	C	T	C80210856T	SGSH	NM_000199.5(SGSH):c.1105G>A:p.Glu369Lys	coding	Pathogenic/Likely_pathogenic
17	80210880	C	T	C80210880T	SGSH	NM_000199.5(SGSH):c.1081G>A:p.Val361Ile	coding	Benign
17	80212128	A	G	A80212128G	SGSH	NM_000199.5(SGSH):c.892T>C:p.Ser298Pro	coding	Pathogenic
17	80212143	G	A	G80212143A	SGSH	NM_000199.5(SGSH):c.877C>T:p.Pro293Ser	coding	Pathogenic/Likely_pathogenic
17	80212268	C	G	C80212268G	SGSH	NM_000199.5(SGSH):c.752G>C:p.Gly251Ala	coding	Benign
17	80212278	T	C	T80212278C	SGSH	NM_000199.5(SGSH):c.746-4A>G	noncoding	Benign
17	80213815	C	T	C80213815T	SGSH	NM_000199.5(SGSH):c.734G>A:p.Arg245His	coding	Pathogenic
17	80213846	C	T	C80213846T	SGSH	NM_000199.5(SGSH):c.703G>A:p.Asp235Asn	coding	Pathogenic/Likely_pathogenic
17	80213848	G	C	G80213848C	SGSH	NM_000199.5(SGSH):c.701C>G:p.Ala234Gly	coding	Benign
17	80213852	G	A	G80213852A	SGSH	NM_000199.5(SGSH):c.697C>T:p.Arg233Ter	coding	Pathogenic/Likely_pathogenic
17	80213874	G	A	G80213874A	SGSH	NM_000199.5(SGSH):c.675C>T:p.Phe225=	coding	Benign
17	80213876	A	G	A80213876G	SGSH	NM_000199.5(SGSH):c.673T>C:p.Phe225Leu	coding	Pathogenic/Likely_pathogenic
17	80213921	A	G	A80213921G	SGSH	NM_000199.5(SGSH):c.664-36T>C	noncoding	Benign
17	80213935	C	T	C80213935T	SGSH	NM_000199.5(SGSH):c.664-50G>A	noncoding	Benign
17	80214155	A	G	A80214155G	SGSH	NM_000199.5(SGSH):c.663+17T>C	noncoding	Benign
17	80214202	G	T	G80214202T	SGSH	NM_000199.5(SGSH):c.633C>A:p.Thr211=	coding	Benign
17	80214206	C	T	C80214206T	SGSH	NM_000199.5(SGSH):c.629G>A:p.Trp210Ter	coding	Pathogenic/Likely_pathogenic
17	80214253	A	T	A80214253T	SGSH	NM_000199.5(SGSH):c.582T>A:p.Cys194Ter	coding	Pathogenic
17	80214257	A	G	A80214257G	SGSH	NM_000199.5(SGSH):c.578T>C:p.Phe193Ser	coding	Pathogenic
17	80214291	G	A	G80214291A	SGSH	NM_000199.5(SGSH):c.544C>T:p.Arg182Cys	coding	Pathogenic/Likely_pathogenic
17	80214313	G	A	G80214313A	SGSH	NM_000199.5(SGSH):c.522C>T:p.Tyr174=	coding	Benign
17	80214631	G	A	G80214631A	SGSH	NM_000199.5(SGSH):c.490C>T:p.Gln164Ter	coding	Pathogenic
17	80214672	C	T	C80214672T	SGSH	NM_000199.5(SGSH):c.449G>A:p.Arg150Gln	coding	Pathogenic/Likely_pathogenic
17	80214738	G	A	G80214738A	SGSH	NM_000199.5(SGSH):c.383C>T:p.Pro128Leu	coding	Pathogenic
17	80214757	C	T	C80214757T	SGSH	NM_000199.5(SGSH):c.364G>A:p.Gly122Arg	coding	Pathogenic/Likely_pathogenic
17	80214767	T	C	T80214767C	SGSH	NM_000199.5(SGSH):c.356-2A>G	noncoding	Pathogenic
17	80215085	G	A	G80215085A	SGSH	NM_000199.5(SGSH):c.303C>T:p.Phe101=	coding	Benign
17	80215120	C	T	C80215120T	SGSH	NM_000199.5(SGSH):c.268G>A:p.Gly90Arg	coding	Pathogenic/Likely_pathogenic
17	80215164	G	A	G80215164A	SGSH	NM_000199.5(SGSH):c.250-26C>T	noncoding	Benign
17	80217060	C	T	C80217060T	SGSH	NM_000199.5(SGSH):c.221G>A:p.Arg74His	coding	Pathogenic/Likely_pathogenic
17	80217061	G	A	G80217061A	SGSH	NM_000199.5(SGSH):c.220C>T:p.Arg74Cys	coding	Pathogenic/Likely_pathogenic
17	80217084	G	C	G80217084C	SGSH	NM_000199.5(SGSH):c.197C>G:p.Ser66Trp	coding	Pathogenic
17	80217118	G	A	G80217118A	SGSH	NM_000199.5(SGSH):c.163C>T:p.Arg55Cys	coding	Benign/Likely_benign
17	80217194	T	C	T80217194C	SGSH	NM_000199.5(SGSH):c.89-2A>G	noncoding	Pathogenic
17	80220312	A	G	A80220312G	SGSH	NM_000199.5(SGSH):c.2T>C:p.Met1Thr	coding	Pathogenic
17	80220313	T	C	T80220313C	SGSH	NM_000199.5(SGSH):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
17	80220313	T	G	T80220313G	SGSH	NM_000199.5(SGSH):c.1A>C:p.Met1Leu	coding	Pathogenic
17	80273246	G	A	G80273246A	RNF213	NM_001256071.3(RNF213):c.103G>A:p.Glu35Lys	coding	Benign
17	80273269	G	A	G80273269A	RNF213	NM_001256071.3(RNF213):c.126G>A:p.Ala42=	coding	Benign
17	80273288	A	G	A80273288G	RNF213	NM_001256071.3(RNF213):c.145A>G:p.Met49Val	coding	Benign
17	80273325	C	T	C80273325T	RNF213	NM_001256071.3(RNF213):c.182C>T:p.Pro61Leu	coding	Benign
17	80287905	T	C	T80287905C	RNF213	NM_001256071.3(RNF213):c.352T>C:p.Cys118Arg	coding	Benign
17	80288036	C	T	C80288036T	RNF213	NM_001256071.3(RNF213):c.483C>T:p.Asp161=	coding	Benign
17	80288043	T	C	T80288043C	RNF213	NM_001256071.3(RNF213):c.490T>C:p.Ser164Pro	coding	Benign
17	80288055	G	A	G80288055A	RNF213	NM_001256071.3(RNF213):c.502G>A:p.Glu168Lys	coding	Benign
17	80288129	C	T	C80288129T	RNF213	NM_001256071.3(RNF213):c.576C>T:p.Ser192=	coding	Benign
17	80288162	G	C	G80288162C	RNF213	NM_001256071.3(RNF213):c.609G>C:p.Glu203Asp	coding	Benign
17	80289696	C	G	C80289696G	RNF213	NM_001256071.3(RNF213):c.971C>G:p.Ala324Gly	coding	Benign
17	80289835	A	G	A80289835G	RNF213	NM_001256071.3(RNF213):c.1110A>G:p.Ala370=	coding	Benign
17	80290581	C	T	C80290581T	RNF213	NM_001256071.3(RNF213):c.1124C>T:p.Pro375Leu	coding	Benign
17	80290637	A	G	A80290637G	RNF213	NM_001256071.3(RNF213):c.1180A>G:p.Asn394Asp	coding	Benign/Likely_benign
17	80291715	C	T	C80291715T	RNF213	NM_001256071.3(RNF213):c.1359C>T:p.Val453=	coding	Benign
17	80291763	G	T	G80291763T	RNF213	NM_001256071.3(RNF213):c.1407G>T:p.Gln469His	coding	Benign
17	80291835	G	A	G80291835A	RNF213	NM_001256071.3(RNF213):c.1471+8G>A	noncoding	Benign
17	80294841	G	A	G80294841A	RNF213	NM_001256071.3(RNF213):c.1593G>A:p.Ala531=	coding	Benign
17	80294916	C	T	C80294916T	RNF213	NM_001256071.3(RNF213):c.1668C>T:p.Phe556=	coding	Benign
17	80295562	G	A	G80295562A	RNF213	NM_001256071.3(RNF213):c.1761G>A:p.Lys587=	coding	Benign
17	80298371	C	T	C80298371T	RNF213	NM_001256071.3(RNF213):c.2063C>T:p.Thr688Met	coding	Benign
17	80306265	C	G	C80306265G	RNF213	NM_001256071.3(RNF213):c.2224C>G:p.Gln742Glu	coding	Benign
17	80306464	C	T	C80306464T	RNF213	NM_001256071.3(RNF213):c.2423C>T:p.Thr808Met	coding	Benign
17	80313007	A	G	A80313007G	RNF213	NM_001256071.3(RNF213):c.2656-5A>G	noncoding	Benign
17	80313152	C	T	C80313152T	RNF213	NM_001256071.3(RNF213):c.2796C>T:p.Tyr932=	coding	Benign
17	80317214	A	G	A80317214G	RNF213	NM_001256071.3(RNF213):c.2838A>G:p.Gln946=	coding	Benign
17	80317223	G	A	G80317223A	RNF213	NM_001256071.3(RNF213):c.2847G>A:p.Ala949=	coding	Benign
17	80325138	G	A	G80325138A	RNF213	NM_001256071.3(RNF213):c.3133G>A:p.Asp1045Asn	coding	Benign
17	80325164	G	A	G80325164A	RNF213	NM_001256071.3(RNF213):c.3159G>A:p.Thr1053=	coding	Benign
17	80328364	C	T	C80328364T	RNF213	NM_001256071.3(RNF213):c.3404C>T:p.Ala1135Val	coding	Benign
17	80331997	C	T	C80331997T	RNF213	NM_001256071.3(RNF213):c.3518-9C>T	noncoding	Benign
17	80332268	C	T	C80332268T	RNF213	NM_001256071.3(RNF213):c.3780C>T:p.Pro1260=	coding	Benign
17	80332433	G	A	G80332433A	RNF213	NM_001256071.3(RNF213):c.3945G>A:p.Thr1315=	coding	Benign
17	80334107	T	G	T80334107G	RNF213	NM_001256071.3(RNF213):c.4146T>G:p.Thr1382=	coding	Benign
17	80336256	G	C	G80336256C	RNF213	NM_001256071.3(RNF213):c.4405G>C:p.Val1469Leu	coding	Benign
17	80337847	G	A	G80337847A	RNF213	NM_001256071.3(RNF213):c.4683G>A:p.Thr1561=	coding	Benign
17	80339481	C	A	C80339481A	RNF213	NM_001256071.3(RNF213):c.5114C>A:p.Thr1705Lys	coding	Benign
17	80340314	C	T	C80340314T	RNF213	NM_001256071.3(RNF213):c.5947C>T:p.Arg1983Trp	coding	Benign
17	80343174	T	C	T80343174C	RNF213	NM_001256071.3(RNF213):c.6032T>C:p.Met2011Thr	coding	Benign
17	80343184	C	T	C80343184T	RNF213	NM_001256071.3(RNF213):c.6042C>T:p.Asn2014=	coding	Benign
17	80343296	G	A	G80343296A	RNF213	NM_001256071.3(RNF213):c.6154G>A:p.Val2052Met	coding	Benign
17	80343962	G	A	G80343962A	RNF213	NM_001256071.3(RNF213):c.6289G>A:p.Val2097Ile	coding	Benign
17	80344707	T	C	T80344707C	RNF213	NM_001256071.3(RNF213):c.6372T>C:p.Leu2124=	coding	Benign
17	80344917	G	A	G80344917A	RNF213	NM_001256071.3(RNF213):c.6582G>A:p.Pro2194=	coding	Benign
17	80344932	G	A	G80344932A	RNF213	NM_001256071.3(RNF213):c.6597G>A:p.Gln2199=	coding	Benign
17	80345205	G	A	G80345205A	RNF213	NM_001256071.3(RNF213):c.6870G>A:p.Ala2290=	coding	Benign
17	80345316	C	T	C80345316T	RNF213	NM_001256071.3(RNF213):c.6981C>T:p.Asn2327=	coding	Benign
17	80345637	C	T	C80345637T	RNF213	NM_001256071.3(RNF213):c.7302C>T:p.Ser2434=	coding	Benign
17	80345670	C	G	C80345670G	RNF213	NM_001256071.3(RNF213):c.7335C>G:p.Thr2445=	coding	Benign
17	80345691	C	T	C80345691T	RNF213	NM_001256071.3(RNF213):c.7356C>T:p.His2452=	coding	Benign
17	80345752	G	A	G80345752A	RNF213	NM_001256071.3(RNF213):c.7417G>A:p.Ala2473Thr	coding	Benign
17	80346156	A	C	A80346156C	RNF213	NM_001256071.3(RNF213):c.7821A>C:p.Leu2607=	coding	Benign
17	80346165	C	T	C80346165T	RNF213	NM_001256071.3(RNF213):c.7830C>T:p.Asn2610=	coding	Benign
17	80346166	G	A	G80346166A	RNF213	NM_001256071.3(RNF213):c.7831G>A:p.Gly2611Arg	coding	Benign
17	80346255	C	T	C80346255T	RNF213	NM_001256071.3(RNF213):c.7920C>T:p.Asp2640=	coding	Benign
17	80346315	G	A	G80346315A	RNF213	NM_001256071.3(RNF213):c.7980G>A:p.Ala2660=	coding	Benign
17	80346345	C	T	C80346345T	RNF213	NM_001256071.3(RNF213):c.8010C>T:p.Ser2670=	coding	Benign
17	80346375	C	T	C80346375T	RNF213	NM_001256071.3(RNF213):c.8040C>T:p.Pro2680=	coding	Benign
17	80346445	C	T	C80346445T	RNF213	NM_001256071.3(RNF213):c.8110C>T:p.Arg2704Trp	coding	Benign
17	80346483	C	T	C80346483T	RNF213	NM_001256071.3(RNF213):c.8148C>T:p.Asp2716=	coding	Benign
17	80346537	C	T	C80346537T	RNF213	NM_001256071.3(RNF213):c.8202C>T:p.Asp2734=	coding	Benign
17	80346765	C	T	C80346765T	RNF213	NM_001256071.3(RNF213):c.8430C>T:p.Ser2810=	coding	Benign
17	80346972	C	T	C80346972T	RNF213	NM_001256071.3(RNF213):c.8637C>T:p.Val2879=	coding	Benign
17	80347125	G	A	G80347125A	RNF213	NM_001256071.3(RNF213):c.8790G>A:p.Gly2930=	coding	Benign
17	80347351	G	A	G80347351A	RNF213	NM_001256071.3(RNF213):c.9016G>A:p.Ala3006Thr	coding	Benign
17	80347704	C	T	C80347704T	RNF213	NM_001256071.3(RNF213):c.9369C>T:p.Leu3123=	coding	Benign
17	80347707	C	T	C80347707T	RNF213	NM_001256071.3(RNF213):c.9372C>T:p.Gly3124=	coding	Benign
17	80348062	A	G	A80348062G	RNF213	NM_001256071.3(RNF213):c.9727A>G:p.Thr3243Ala	coding	Benign
17	80348076	C	T	C80348076T	RNF213	NM_001256071.3(RNF213):c.9741C>T:p.His3247=	coding	Benign
17	80348187	G	A	G80348187A	RNF213	NM_001256071.3(RNF213):c.9852G>A:p.Ser3284=	coding	Benign
17	80348253	G	A	G80348253A	RNF213	NM_001256071.3(RNF213):c.9918G>A:p.Thr3306=	coding	Benign
17	80349770	A	G	A80349770G	RNF213	NM_001256071.3(RNF213):c.9952A>G:p.Ile3318Val	coding	Benign
17	80351683	A	G	A80351683G	RNF213	NM_001256071.3(RNF213):c.10185-2A>G	noncoding	Benign
17	80353504	G	A	G80353504A	RNF213	NM_001256071.3(RNF213):c.10424-8G>A	coding	Benign/Likely_benign
17	80353530	C	T	C80353530T	RNF213	NM_001256071.3(RNF213):c.10442C>T:p.Ala3481Val	coding	Benign
17	80353531	G	A	G80353531A	RNF213	NM_001256071.3(RNF213):c.10443G>A:p.Ala3481=	coding	Benign
17	80353655	G	A	G80353655A	RNF213	NM_001256071.3(RNF213):c.10567G>A:p.Gly3523Arg	coding	Benign
17	80354156	C	T	C80354156T	RNF213	NM_001256071.3(RNF213):c.10716C>T:p.Asp3572=	coding	Benign
17	80354437	A	G	A80354437G	RNF213	NM_001256071.3(RNF213):c.10727-4A>G	coding	Benign
17	80360130	C	T	C80360130T	RNF213	NM_001256071.3(RNF213):c.11124C>T:p.Asn3708=	coding	Benign
17	80360198	A	G	A80360198G	RNF213	NM_001256071.3(RNF213):c.11192A>G:p.Asp3731Gly	coding	Benign
17	80361728	C	A	C80361728A	RNF213	NM_001256071.3(RNF213):c.11201-6C>A	noncoding	Benign
17	80363629	A	G	A80363629G	RNF213	NM_001256071.3(RNF213):c.11589A>G:p.Ala3863=	coding	Benign
17	80363740	G	A	G80363740A	RNF213	NM_001256071.3(RNF213):c.11700G>A:p.Glu3900=	coding	Benign
17	80364493	C	T	C80364493T	RNF213	NM_001256071.3(RNF213):c.11811C>T:p.Thr3937=	coding	Benign
17	80364502	C	T	C80364502T	RNF213	NM_001256071.3(RNF213):c.11820C>T:p.Arg3940=	coding	Benign
17	80364503	G	A	G80364503A	RNF213	NM_001256071.3(RNF213):c.11821G>A:p.Val3941Ile	coding	Benign
17	80364508	C	T	C80364508T	RNF213	NM_001256071.3(RNF213):c.11826C>T:p.Pro3942=	coding	Benign
17	80364529	C	T	C80364529T	RNF213	NM_001256071.3(RNF213):c.11847C>T:p.Thr3949=	coding	Benign
17	80367856	C	T	C80367856T	RNF213	NM_001256071.3(RNF213):c.11972+8C>T	noncoding	Benign
17	80368024	C	T	C80368024T	RNF213	NM_001256071.3(RNF213):c.12036C>T:p.Cys4012=	coding	Benign
17	80368030	C	T	C80368030T	RNF213	NM_001256071.3(RNF213):c.12042C>T:p.His4014=	coding	Benign
17	80369795	C	T	C80369795T	RNF213	NM_001256071.3(RNF213):c.12353C>T:p.Ser4118Phe	coding	Pathogenic
17	80372631	G	A	G80372631A	RNF213	NM_001256071.3(RNF213):c.12648G>A:p.Glu4216=	coding	Benign
17	80372731	C	A	C80372731A	RNF213	NM_001256071.3(RNF213):c.12748C>A:p.Pro4250Thr	coding	Benign
17	80373027	C	T	C80373027T	RNF213	NM_001256071.3(RNF213):c.12804C>T:p.Ile4268=	coding	Benign
17	80373150	C	T	C80373150T	RNF213	NM_001256071.3(RNF213):c.12927C>T:p.Asp4309=	coding	Benign
17	80374487	G	A	G80374487A	RNF213	NM_001256071.3(RNF213):c.12972G>A:p.Met4324Ile	coding	Benign
17	80376310	G	A	G80376310A	RNF213	NM_001256071.3(RNF213):c.13195G>A:p.Ala4399Thr	coding	Benign
17	80376369	T	C	T80376369C	RNF213	NM_001256071.3(RNF213):c.13254T>C:p.Phe4418=	coding	Benign
17	80376375	A	G	A80376375G	RNF213	NM_001256071.3(RNF213):c.13260A>G:p.Thr4420=	coding	Benign
17	80376423	C	T	C80376423T	RNF213	NM_001256071.3(RNF213):c.13308C>T:p.Asp4436=	coding	Benign
17	80376967	A	G	A80376967G	RNF213	NM_001256071.3(RNF213):c.13510+4A>G	noncoding	Benign
17	80379664	G	A	G80379664A	RNF213	NM_001256071.3(RNF213):c.13590G>A:p.Ala4530=	coding	Benign
17	80379678	T	C	T80379678C	RNF213	NM_001256071.3(RNF213):c.13604T>C:p.Ile4535Thr	coding	Benign
17	80380956	C	T	C80380956T	RNF213	NM_001256071.3(RNF213):c.13766C>T:p.Ala4589Val	coding	Benign
17	80380972	G	A	G80380972A	RNF213	NM_001256071.3(RNF213):c.13782G>A:p.Ala4594=	coding	Benign
17	80381612	G	A	G80381612A	RNF213	NM_001256071.3(RNF213):c.13863G>A:p.Leu4621=	coding	Benign
17	80383030	G	T	G80383030T	RNF213	NM_001256071.3(RNF213):c.14030G>T:p.Trp4677Leu	coding	Benign
17	80383793	G	C	G80383793C	RNF213	NM_001256071.3(RNF213):c.14187G>C:p.Leu4729=	coding	Benign
17	80383800	A	G	A80383800G	RNF213	NM_001256071.3(RNF213):c.14194A>G:p.Lys4732Glu	coding	Benign
17	80385145	G	A	G80385145A	RNF213	NM_001256071.3(RNF213):c.14429G>A:p.Arg4810Lys	coding	Pathogenic
17	80385158	C	G	C80385158G	RNF213	NM_001256071.3(RNF213):c.14442C>G:p.Ser4814Arg	coding	Benign
17	80386302	T	G	T80386302G	RNF213	NM_001256071.3(RNF213):c.14592T>G:p.Thr4864=	coding	Benign
17	80386753	C	T	C80386753T	RNF213	NM_001256071.3(RNF213):c.14784C>T:p.Asp4928=	coding	Benign
17	80386810	C	T	C80386810T	RNF213	NM_001256071.3(RNF213):c.14841C>T:p.Thr4947=	coding	Benign
17	80386849	C	T	C80386849T	RNF213	NM_001256071.3(RNF213):c.14880C>T:p.Ile4960=	coding	Benign
17	80389189	C	T	C80389189T	RNF213	NM_001256071.3(RNF213):c.15017C>T:p.Ser5006Leu	coding	Benign
17	80389866	C	A	C80389866A	RNF213	NM_001256071.3(RNF213):c.15234C>A:p.Leu5078=	coding	Benign
17	80393435	C	T	C80393435T	RNF213	NM_001256071.3(RNF213):c.15561C>T:p.Leu5187=	coding	Benign
17	80393498	G	A	G80393498A	RNF213	NM_001256071.3(RNF213):c.15624G>A:p.Ter5208=	coding	Benign
17	80423537	C	T	C80423537T	ENDOV	NM_173627.5(ENDOV):c.421C>T:p.His141Tyr	coding	Benign
17	80471768	G	A	G80471768A	NPTX1	NM_002522.4(NPTX1):c.1041C>T:p.Ile347=	coding	Benign
17	80476138	C	T	C80476138T	NPTX1	NM_002522.4(NPTX1):c.309G>A:p.Arg103=	coding	Benign
17	80837970	G	A	G80837970A	RPTOR	NM_020761.3(RPTOR):c.1185G>A:p.Thr395=	coding	Benign
17	80883478	G	A	G80883478A	RPTOR	NM_020761.3(RPTOR):c.1644G>A:p.Thr548=	coding	Benign
17	80883927	C	T	C80883927T	RPTOR	NM_020761.3(RPTOR):c.1797C>T:p.Ser599=	coding	Benign
17	80885016	C	T	C80885016T	RPTOR	NM_020761.3(RPTOR):c.1851C>T:p.Cys617=	coding	Benign
17	80940501	A	G	A80940501G	RPTOR	NM_020761.3(RPTOR):c.2925A>G:p.Pro975=	coding	Benign
17	80945790	C	T	C80945790T	RPTOR	NM_020761.3(RPTOR):c.3140+9C>T	noncoding	Benign
17	80947308	G	A	G80947308A	RPTOR	NM_020761.3(RPTOR):c.3222G>A:p.Glu1074=	coding	Benign
17	80994680	G	A	G80994680A	CHMP6	NM_024591.5(CHMP6):c.163G>A:p.Gly55Ser	coding	Benign
17	80999102	C	T	C80999102T	CHMP6	NM_024591.5(CHMP6):c.555C>T:p.Asn185=	coding	Benign
17	81086553	T	A	T81086553A	BAIAP2	NM_006340.3(BAIAP2):c.462T>A:p.Pro154=	coding	Benign
17	81099993	C	T	C81099993T	BAIAP2	NM_006340.3(BAIAP2):c.555C>T:p.Thr185=	coding	Benign
17	81100050	G	A	G81100050A	BAIAP2	NM_006340.3(BAIAP2):c.612G>A:p.Val204=	coding	Benign
17	81100062	C	T	C81100062T	BAIAP2	NM_006340.3(BAIAP2):c.624C>T:p.Ser208=	coding	Benign
17	81103493	C	T	C81103493T	BAIAP2	NM_006340.3(BAIAP2):c.643-9C>T	noncoding	Benign
17	81104623	C	T	C81104623T	BAIAP2	NM_006340.3(BAIAP2):c.1176C>T:p.Thr392=	coding	Benign
17	81106754	A	G	A81106754G	BAIAP2	NM_006340.3(BAIAP2):c.1347A>G:p.Gln449=	coding	Benign
17	81115800	G	A	G81115800A	BAIAP2	NM_006340.3(BAIAP2):c.*49G>A	coding	Benign
17	81228943	C	T	C81228943T	TEPSIN	NM_001363764.2(TEPSIN):c.1767G>A:p.Ala589=	coding	Benign
17	81229041	C	T	C81229041T	TEPSIN	NM_001363764.2(TEPSIN):c.1669G>A:p.Ala557Thr	coding	Benign
17	81229148	G	T	G81229148T	TEPSIN	NM_001363764.2(TEPSIN):c.1562C>A:p.Thr521Lys	coding	Benign
17	81239364	A	G	A81239364G	NDUFAF8	NM_001086521.2(NDUFAF8):c.1A>G:p.Met1Val	coding	Pathogenic
17	81510690	T	C	T81510690C	ACTG1	NM_001614.5(ACTG1):c.1128A>G:p.Ter376=	coding	Benign
17	81510705	G	A	G81510705A	ACTG1	NM_001614.5(ACTG1):c.1113C>T:p.His371=	coding	Benign
17	81510709	A	G	A81510709G	ACTG1	NM_001614.5(ACTG1):c.1109T>C:p.Val370Ala	coding	Pathogenic
17	81510789	G	A	G81510789A	ACTG1	NM_001614.5(ACTG1):c.1029C>T:p.Gly343=	coding	Benign
17	81510792	A	G	A81510792G	ACTG1	NM_001614.5(ACTG1):c.1026T>C:p.Gly342=	coding	Benign
17	81510801	C	G	C81510801G	ACTG1	NM_001614.5(ACTG1):c.1017G>C:p.Val339=	coding	Benign/Likely_benign
17	81510804	C	T	C81510804T	ACTG1	NM_001614.5(ACTG1):c.1014G>A:p.Ser338=	coding	Benign
17	81510814	C	T	C81510814T	ACTG1	NM_001614.5(ACTG1):c.1004G>A:p.Arg335His	coding	Pathogenic
17	81510824	G	C	G81510824C	ACTG1	NM_001614.5(ACTG1):c.994C>G:p.Pro332Ala	coding	Pathogenic
17	81510838	A	G	A81510838G	ACTG1	NM_001614.5(ACTG1):c.985-5T>C	noncoding	Benign/Likely_benign
17	81510865	A	G	A81510865G	ACTG1	NM_001614.5(ACTG1):c.985-32T>C	noncoding	Benign
17	81510957	G	A	G81510957A	ACTG1	NM_001614.5(ACTG1):c.954C>T:p.Thr318=	coding	Benign/Likely_benign
17	81510981	G	A	G81510981A	ACTG1	NM_001614.5(ACTG1):c.930C>T:p.Ala310=	coding	Benign
17	81510993	G	A	G81510993A	ACTG1	NM_001614.5(ACTG1):c.918C>T:p.Tyr306=	coding	Benign
17	81511002	G	A	G81511002A	ACTG1	NM_001614.5(ACTG1):c.909C>T:p.Thr303=	coding	Benign/Likely_benign
17	81511034	G	A	G81511034A	ACTG1	NM_001614.5(ACTG1):c.877C>T:p.Leu293=	coding	Benign
17	81511078	G	A	G81511078A	ACTG1	NM_001614.5(ACTG1):c.833C>T:p.Thr278Ile	coding	Pathogenic
17	81511114	G	A	G81511114A	ACTG1	NM_001614.5(ACTG1):c.803-6C>T	noncoding	Benign/Likely_benign
17	81511155	T	A	T81511155A	ACTG1	NM_001614.5(ACTG1):c.802+33A>T	noncoding	Benign
17	81511199	G	A	G81511199A	ACTG1	NM_001614.5(ACTG1):c.791C>T:p.Pro264Leu	coding	Pathogenic
17	81511210	C	T	C81511210T	ACTG1	NM_001614.5(ACTG1):c.780G>A:p.Ala260=	coding	Benign/Likely_benign
17	81511216	C	T	C81511216T	ACTG1	NM_001614.5(ACTG1):c.774G>A:p.Pro258=	coding	Benign/Likely_benign
17	81511224	G	A	G81511224A	ACTG1	NM_001614.5(ACTG1):c.766C>T:p.Arg256Trp	coding	Pathogenic
17	81511230	G	A	G81511230A	ACTG1	NM_001614.5(ACTG1):c.760C>T:p.Arg254Trp	coding	Pathogenic
17	81511255	G	A	G81511255A	ACTG1	NM_001614.5(ACTG1):c.735C>T:p.Gly245=	coding	Benign/Likely_benign
17	81511261	G	A	G81511261A	ACTG1	NM_001614.5(ACTG1):c.729C>T:p.Pro243=	coding	Benign
17	81511276	C	T	C81511276T	ACTG1	NM_001614.5(ACTG1):c.714G>A:p.Lys238=	coding	Benign/Likely_benign
17	81511297	T	C	T81511297C	ACTG1	NM_001614.5(ACTG1):c.693A>G:p.Ala231=	coding	Benign
17	81511306	G	A	G81511306A	ACTG1	NM_001614.5(ACTG1):c.684C>T:p.Ala228=	coding	Benign/Likely_benign
17	81511382	G	T	G81511382T	ACTG1	NM_001614.5(ACTG1):c.608C>A:p.Thr203Lys	coding	Pathogenic
17	81511432	G	A	G81511432A	ACTG1	NM_001614.5(ACTG1):c.558C>T:p.Thr186=	coding	Benign/Likely_benign
17	81511444	G	A	G81511444A	ACTG1	NM_001614.5(ACTG1):c.546C>T:p.Gly182=	coding	Benign/Likely_benign
17	81511459	A	G	A81511459G	ACTG1	NM_001614.5(ACTG1):c.531T>C:p.Arg177=	coding	Benign/Likely_benign
17	81511519	G	A	G81511519A	ACTG1	NM_001614.5(ACTG1):c.471C>T:p.Asp157=	coding	Benign
17	81511526	G	A	G81511526A	ACTG1	NM_001614.5(ACTG1):c.464C>T:p.Ser155Phe	coding	Pathogenic
17	81511576	G	A	G81511576A	ACTG1	NM_001614.5(ACTG1):c.414C>T:p.Ala138=	coding	Benign/Likely_benign
17	81511586	G	A	G81511586A	ACTG1	NM_001614.5(ACTG1):c.404C>T:p.Ala135Val	coding	Pathogenic
17	81511591	G	A	G81511591A	ACTG1	NM_001614.5(ACTG1):c.399C>T:p.Tyr133=	coding	Benign
17	81511844	C	A	C81511844A	ACTG1	NM_001614.5(ACTG1):c.363+59G>T	noncoding	Benign
17	81511845	C	T	C81511845T	ACTG1	NM_001614.5(ACTG1):c.363+58G>A	noncoding	Benign
17	81511890	G	T	G81511890T	ACTG1	NM_001614.5(ACTG1):c.363+13C>A	noncoding	Benign
17	81511896	G	C	G81511896C	ACTG1	NM_001614.5(ACTG1):c.363+7C>G	noncoding	Benign/Likely_benign
17	81511907	G	A	G81511907A	ACTG1	NM_001614.5(ACTG1):c.359C>T:p.Thr120Ile	coding	Pathogenic
17	81511912	C	A	C81511912A	ACTG1	NM_001614.5(ACTG1):c.354G>T:p.Lys118Asn	coding	Pathogenic
17	81511912	C	G	C81511912G	ACTG1	NM_001614.5(ACTG1):c.354G>C:p.Lys118Asn	coding	Pathogenic
17	81511921	G	A	G81511921A	ACTG1	NM_001614.5(ACTG1):c.345C>T:p.Asn115=	coding	Benign/Likely_benign
17	81512000	G	A	G81512000A	ACTG1	NM_001614.5(ACTG1):c.266C>T:p.Thr89Ile	coding	Pathogenic
17	81512089	C	T	C81512089T	ACTG1	NM_001614.5(ACTG1):c.177G>A:p.Gln59=	coding	Benign
17	81512101	G	A	G81512101A	ACTG1	NM_001614.5(ACTG1):c.165C>T:p.Gly55=	coding	Benign
17	81512140	G	A	G81512140A	ACTG1	NM_001614.5(ACTG1):c.126C>T:p.Gly42=	coding	Benign/Likely_benign
17	81512150	G	A	G81512150A	ACTG1	NM_001614.5(ACTG1):c.124-8C>T	noncoding	Benign
17	81512156	C	T	C81512156T	ACTG1	NM_001614.5(ACTG1):c.124-14G>A	noncoding	Benign
17	81512283	G	A	G81512283A	ACTG1	NM_001614.5(ACTG1):c.72C>T:p.Asp24=	coding	Benign/Likely_benign
17	81512316	G	A	G81512316A	ACTG1	NM_001614.5(ACTG1):c.39C>T:p.Gly13=	coding	Benign/Likely_benign
17	81512337	G	A	G81512337A	ACTG1	NM_001614.5(ACTG1):c.18C>T:p.Ala6=	coding	Benign/Likely_benign
17	81512340	G	A	G81512340A	ACTG1	NM_001614.5(ACTG1):c.15C>T:p.Ile5=	coding	Benign
17	81512340	G	T	G81512340T	ACTG1	NM_001614.5(ACTG1):c.15C>A:p.Ile5=	coding	Benign
17	81512363	G	A	G81512363A	ACTG1	NM_001614.5(ACTG1):c.-6-3C>T	noncoding	Benign
17	81512374	G	A	G81512374A	ACTG1	NM_001614.5(ACTG1):c.-6-14C>T	noncoding	Benign
17	81512751	G	A	G81512751A	ACTG1	NM_001614.5(ACTG1):c.-24C>T	noncoding	Benign
17	81512758	C	G	C81512758G	ACTG1	NM_001614.5(ACTG1):c.-31G>C	noncoding	Benign
17	81512766	G	A	G81512766A	ACTG1	NM_001614.5(ACTG1):c.-39C>T	noncoding	Benign
17	81512774	T	C	T81512774C	ACTG1	NM_001614.5(ACTG1):c.-47A>G	noncoding	Benign
17	81528579	C	T	C81528579T	FSCN2	NM_012418.4(FSCN2):c.48C>T:p.Leu16=	coding	Benign/Likely_benign
17	81528681	C	G	C81528681G	FSCN2	NM_012418.4(FSCN2):c.150C>G:p.Pro50=	coding	Benign/Likely_benign
17	81528840	G	A	G81528840A	FSCN2	NM_012418.4(FSCN2):c.309G>A:p.Arg103=	coding	Benign
17	81528864	C	T	C81528864T	FSCN2	NM_012418.4(FSCN2):c.333C>T:p.Phe111=	coding	Benign
17	81528888	C	T	C81528888T	FSCN2	NM_012418.4(FSCN2):c.357C>T:p.Ser119=	coding	Benign/Likely_benign
17	81528912	G	A	G81528912A	FSCN2	NM_012418.4(FSCN2):c.381G>A:p.Pro127=	coding	Benign
17	81528943	C	T	C81528943T	FSCN2	NM_012418.4(FSCN2):c.412C>T:p.His138Tyr	coding	Benign
17	81528973	C	T	C81528973T	FSCN2	NM_012418.4(FSCN2):c.442C>T:p.Arg148Trp	coding	Benign
17	81528984	C	T	C81528984T	FSCN2	NM_012418.4(FSCN2):c.453C>T:p.Tyr151=	coding	Benign
17	81529062	C	T	C81529062T	FSCN2	NM_012418.4(FSCN2):c.531C>T:p.Leu177=	coding	Benign
17	81529069	C	T	C81529069T	FSCN2	NM_012418.4(FSCN2):c.538C>T:p.Arg180Trp	coding	Benign/Likely_benign
17	81529164	G	A	G81529164A	FSCN2	NM_012418.4(FSCN2):c.633G>A:p.Thr211=	coding	Benign
17	81529263	G	A	G81529263A	FSCN2	NM_012418.4(FSCN2):c.732G>A:p.Thr244=	coding	Benign
17	81529269	T	C	T81529269C	FSCN2	NM_012418.4(FSCN2):c.738T>C:p.Pro246=	coding	Benign
17	81535191	C	T	C81535191T	FSCN2	NM_012418.4(FSCN2):c.966C>T:p.His322=	coding	Benign
17	81535192	G	A	G81535192A	FSCN2	NM_012418.4(FSCN2):c.967G>A:p.Ala323Thr	coding	Benign
17	81536139	C	T	C81536139T	FSCN2	NM_012418.4(FSCN2):c.984-7C>T	noncoding	Benign/Likely_benign
17	81536209	C	T	C81536209T	FSCN2	NM_012418.4(FSCN2):c.1047C>T:p.Asn349=	coding	Benign
17	81536248	G	A	G81536248A	FSCN2	NM_012418.4(FSCN2):c.1086G>A:p.Ala362=	coding	Benign
17	81536254	C	T	C81536254T	FSCN2	NM_012418.4(FSCN2):c.1092C>T:p.Ile364=	coding	Benign/Likely_benign
17	81536616	C	T	C81536616T	FSCN2	NM_012418.4(FSCN2):c.1106-6C>T	coding	Benign
17	81536640	C	G	C81536640G	FSCN2	NM_012418.4(FSCN2):c.1124C>G:p.Thr375Ser	coding	Benign
17	81536968	G	A	G81536968A	FSCN2	NM_012418.4(FSCN2):c.1367G>A:p.Arg456His	coding	Benign
17	81537026	C	A	C81537026A	FSCN2	NM_012418.4(FSCN2):c.1425C>A:p.Gly475=	coding	Benign
17	81537047	C	T	C81537047T	FSCN2	NM_012418.4(FSCN2):c.1446C>T:p.Asp482=	coding	Benign
17	81559353	G	A	G81559353A	NPLOC4	NM_017921.4(NPLOC4):c.1733C>T:p.Thr578Met	coding	Benign
17	81559406	G	A	G81559406A	NPLOC4	NM_017921.4(NPLOC4):c.1680C>T:p.Gly560=	coding	Benign
17	81572047	C	A	C81572047A	NPLOC4	NM_017921.4(NPLOC4):c.1323G>T:p.Arg441=	coding	Benign
17	81650504	A	G	A81650504G	PDE6G	NM_002602.4(PDE6G):c.*570T>C	noncoding	Benign
17	81650590	A	C	A81650590C	PDE6G	NM_002602.4(PDE6G):c.*484T>G	noncoding	Benign
17	81650675	G	A	G81650675A	PDE6G	NM_002602.4(PDE6G):c.*399C>T	noncoding	Benign
17	81650681	G	A	G81650681A	PDE6G	NM_002602.4(PDE6G):c.*393C>T	noncoding	Benign
17	81650758	C	T	C81650758T	PDE6G	NM_002602.4(PDE6G):c.*316G>A	noncoding	Benign
17	81650800	G	A	G81650800A	PDE6G	NM_002602.4(PDE6G):c.*274C>T	noncoding	Benign
17	81650841	A	G	A81650841G	PDE6G	NM_002602.4(PDE6G):c.*233T>C	noncoding	Benign
17	81651029	C	T	C81651029T	PDE6G	NM_002602.4(PDE6G):c.*45G>A	noncoding	Benign
17	81651644	C	A	C81651644A	PDE6G	NM_002602.4(PDE6G):c.187+1G>T	noncoding	Pathogenic
17	81651676	G	A	G81651676A	PDE6G	NM_002602.4(PDE6G):c.156C>T:p.Asp52=	coding	Benign/Likely_benign
17	81686994	C	T	C81686994T	HGS	NM_004712.5(HGS):c.199-9C>T	noncoding	Benign
17	81693920	G	T	G81693920T	HGS	NM_004712.5(HGS):c.891G>T:p.Ser297=	coding	Benign
17	81695806	G	C	G81695806C	HGS	NM_004712.5(HGS):c.1200G>C:p.Glu400Asp	coding	Benign
17	81695980	C	T	C81695980T	HGS	NM_004712.5(HGS):c.1374C>T:p.Asn458=	coding	Benign
17	81696600	C	T	C81696600T	HGS	NM_004712.5(HGS):c.1567-7C>T	noncoding	Benign
17	81700582	T	A	T81700582A	HGS	NM_004712.5(HGS):c.1998T>A:p.Thr666=	coding	Benign
17	81703612	G	A	G81703612A	MRPL12	NM_002949.4(MRPL12):c.74+37G>A	noncoding	Benign
17	81704268	C	T	C81704268T	MRPL12	NM_002949.4(MRPL12):c.99C>T:p.Ala33=	coding	Benign
17	81704302	T	C	T81704302C	MRPL12	NM_002949.4(MRPL12):c.133T>C:p.Cys45Arg	coding	Benign
17	81704684	T	C	T81704684C	MRPL12	NM_002949.4(MRPL12):c.313T>C:p.Ser105Pro	coding	Benign
17	81707185	C	T	C81707185T	MRPL12	NM_002949.4(MRPL12):c.542C>T:p.Ala181Val	coding	Pathogenic
17	81715736	C	T	C81715736T	SLC25A10	NM_012140.5(SLC25A10):c.372C>T:p.Asn124=	coding	Benign
17	81716850	G	A	G81716850A	SLC25A10	NM_012140.5(SLC25A10):c.458G>A:p.Arg153His	coding	Benign
17	81720115	G	A	G81720115A	SLC25A10	NM_012140.5(SLC25A10):c.*38G>A	coding	Benign
17	81720188	G	A	G81720188A	SLC25A10	NM_012140.5(SLC25A10):c.*111G>A	coding	Benign
17	81720313	G	A	G81720313A	SLC25A10	NM_012140.5(SLC25A10):c.*236G>A	coding	Benign
17	81809839	G	A	G81809839A	GCGR	NM_000160.5(GCGR):c.118G>A:p.Gly40Ser	coding	Benign
17	81811728	G	A	G81811728A	GCGR	NM_000160.5(GCGR):c.735G>A:p.Glu245=	coding	Benign
17	81811902	C	T	C81811902T	GCGR	NM_000160.5(GCGR):c.834C>T:p.Phe278=	coding	Benign
17	81812597	C	T	C81812597T	GCGR	NM_000160.5(GCGR):c.969C>T:p.Val323=	coding	Benign
17	81813506	C	T	C81813506T	GCGR	NM_000160.5(GCGR):c.1251C>T:p.Arg417=	coding	Benign
17	81813581	C	G	C81813581G	GCGR	NM_000160.5(GCGR):c.1326C>G:p.Gly442=	coding	Benign
17	81813627	G	C	G81813627C	GCGR	NM_000160.5(GCGR):c.1372G>C:p.Asp458His	coding	Benign
17	81844042	A	G	A81844042G	P4HB	NM_000918.4(P4HB):c.1497T>C:p.Asp499=	coding	Benign
17	81845216	G	A	G81845216A	P4HB	NM_000918.4(P4HB):c.1374C>T:p.Asn458=	coding	Benign
17	81845570	G	A	G81845570A	P4HB	NM_000918.4(P4HB):c.1350C>T:p.Ala450=	coding	Benign
17	81845742	T	C	T81845742C	P4HB	NM_000918.4(P4HB):c.1178A>G:p.Tyr393Cys	coding	Pathogenic
17	81846637	A	T	A81846637T	P4HB	NM_000918.4(P4HB):c.856-8T>A	noncoding	Benign
17	81859230	G	A	G81859230A	P4HB	NM_000918.4(P4HB):c.303C>T:p.Thr101=	coding	Benign
17	81859252	T	C	T81859252C	P4HB	NM_000918.4(P4HB):c.281A>G:p.Tyr94Cys	coding	Benign
17	81868973	C	A	C81868973A	ARHGDIA	NM_004309.6(ARHGDIA):c.518G>T:p.Gly173Val	coding	Pathogenic
17	81869059	G	A	G81869059A	ARHGDIA	NM_004309.6(ARHGDIA):c.432C>T:p.Tyr144=	coding	Benign
17	81869230	G	A	G81869230A	ARHGDIA	NM_004309.6(ARHGDIA):c.358C>T:p.Arg120Ter	coding	Pathogenic
17	81904928	G	A	G81904928A	PCYT2	NM_002861.5(PCYT2):c.1075C>T:p.Arg359Ter	coding	Pathogenic
17	81905059	A	G	A81905059G	PCYT2	NM_002861.5(PCYT2):c.1058+7T>C	noncoding	Benign
17	81906760	G	A	G81906760A	PCYT2	NM_002861.5(PCYT2):c.676C>T:p.His226Tyr	coding	Pathogenic
17	81906878	G	A	G81906878A	PCYT2	NM_002861.5(PCYT2):c.558C>T:p.Pro186=	coding	Benign
17	81932942	C	T	C81932942T	PYCR1	NM_006907.4(PYCR1):c.*272G>A	coding	Benign
17	81933146	G	A	G81933146A	PYCR1	NM_006907.4(PYCR1):c.*68C>T	coding	Benign
17	81933271	T	C	T81933271C	PYCR1	NM_006907.4(PYCR1):c.903A>G:p.Ser301=	coding	Benign
17	81933274	C	T	C81933274T	PYCR1	NM_006907.4(PYCR1):c.900G>A:p.Leu300=	coding	Benign/Likely_benign
17	81933280	G	A	G81933280A	PYCR1	NM_006907.4(PYCR1):c.894C>T:p.Thr298=	coding	Benign
17	81934186	G	A	G81934186A	PYCR1	NM_006907.4(PYCR1):c.797+140C>T	noncoding	Benign
17	81934326	C	T	C81934326T	PYCR1	NM_006907.4(PYCR1):c.797G>A:p.Arg266Gln	coding	Pathogenic
17	81934354	C	T	C81934354T	PYCR1	NM_006907.4(PYCR1):c.769G>A:p.Ala257Thr	coding	Pathogenic
17	81934371	C	T	C81934371T	PYCR1	NM_006907.4(PYCR1):c.752G>A:p.Arg251His	coding	Pathogenic
17	81934372	G	A	G81934372A	PYCR1	NM_006907.4(PYCR1):c.751C>T:p.Arg251Cys	coding	Pathogenic
17	81934380	C	T	C81934380T	PYCR1	NM_006907.4(PYCR1):c.743G>A:p.Gly248Glu	coding	Pathogenic
17	81934401	G	A	G81934401A	PYCR1	NM_006907.4(PYCR1):c.722C>T:p.Ala241Val	coding	Pathogenic
17	81934652	C	G	C81934652G	PYCR1	NM_006907.4(PYCR1):c.633+1G>C	noncoding	Pathogenic/Likely_pathogenic
17	81934670	C	A	C81934670A	PYCR1	NM_006907.4(PYCR1):c.616G>T:p.Gly206Trp	coding	Pathogenic
17	81934670	C	T	C81934670T	PYCR1	NM_006907.4(PYCR1):c.616G>A:p.Gly206Arg	coding	Pathogenic/Likely_pathogenic
17	81934710	A	G	A81934710G	PYCR1	NM_006907.4(PYCR1):c.576T>C:p.Gly192=	coding	Benign
17	81934915	G	A	G81934915A	PYCR1	NM_006907.4(PYCR1):c.540+11C>T	noncoding	Benign/Likely_benign
17	81934925	C	T	C81934925T	PYCR1	NM_006907.4(PYCR1):c.540+1G>A	noncoding	Pathogenic
17	81934931	C	T	C81934931T	PYCR1	NM_006907.4(PYCR1):c.535G>A:p.Ala179Thr	coding	Pathogenic/Likely_pathogenic
17	81934938	G	A	G81934938A	PYCR1	NM_006907.4(PYCR1):c.528C>T:p.Ser176=	coding	Benign/Likely_benign
17	81935110	C	T	C81935110T	PYCR1	NM_006907.4(PYCR1):c.356G>A:p.Arg119His	coding	Pathogenic
17	81935111	G	A	G81935111A	PYCR1	NM_006907.4(PYCR1):c.355C>T:p.Arg119Cys	coding	Pathogenic
17	81935111	G	C	G81935111C	PYCR1	NM_006907.4(PYCR1):c.355C>G:p.Arg119Gly	coding	Pathogenic
17	81935117	C	A	C81935117A	PYCR1	NM_006907.4(PYCR1):c.349G>T:p.Val117Phe	coding	Pathogenic
17	81935118	C	T	C81935118T	PYCR1	NM_006907.4(PYCR1):c.348G>A:p.Arg116=	coding	Benign/Likely_benign
17	81936122	C	T	C81936122T	PYCR1	NM_006907.4(PYCR1):c.138+1G>A	noncoding	Pathogenic
17	81936804	C	A	C81936804A	PYCR1	NM_006907.4(PYCR1):c.11G>T:p.Gly4Val	coding	Pathogenic
17	81936876	C	T	C81936876T	PYCR1	NM_006907.4(PYCR1):c.-62G>A	coding	Benign
17	81956915	G	A	G81956915A	NOTUM	NM_178493.6(NOTUM):c.855C>T:p.Cys285=	coding	Benign
17	81956946	C	T	C81956946T	NOTUM	NM_178493.6(NOTUM):c.824G>A:p.Arg275His	coding	Benign
17	82037555	G	A	G82037555A	DCXR	NM_016286.4(DCXR):c.53-8C>T	noncoding	Benign
17	82051566	G	A	G82051566A	RFNG	NM_002917.2(RFNG):c.201C>T:p.Thr67=	coding	Benign
17	82054634	C	T	C82054634T	GPS1	NM_212492.3(GPS1):c.553C>T:p.Leu185=	coding	Benign
17	82079393	G	A	G82079393A	FASN	NM_004104.5(FASN):c.7362C>T:p.Tyr2454=	coding	Benign
17	82079563	C	A	C82079563A	FASN	NM_004104.5(FASN):c.7192G>T:p.Ala2398Ser	coding	Benign
17	82079586	A	C	A82079586C	FASN	NM_004104.5(FASN):c.7169T>G:p.Leu2390Arg	coding	Benign
17	82079588	C	T	C82079588T	FASN	NM_004104.5(FASN):c.7167G>A:p.Pro2389=	coding	Benign
17	82079598	G	A	G82079598A	FASN	NM_004104.5(FASN):c.7157C>T:p.Ala2386Val	coding	Benign
17	82080753	G	A	G82080753A	FASN	NM_004104.5(FASN):c.6765C>T:p.Thr2255=	coding	Benign
17	82080811	G	A	G82080811A	FASN	NM_004104.5(FASN):c.6707C>T:p.Ser2236Phe	coding	Benign
17	82081205	C	T	C82081205T	FASN	NM_004104.5(FASN):c.6554G>A:p.Arg2185Gln	coding	Benign
17	82081282	G	A	G82081282A	FASN	NM_004104.5(FASN):c.6477C>T:p.Ser2159=	coding	Benign
17	82081633	C	T	C82081633T	FASN	NM_004104.5(FASN):c.6374G>A:p.Arg2125Gln	coding	Benign
17	82081851	G	C	G82081851C	FASN	NM_004104.5(FASN):c.6164-8C>G	noncoding	Benign
17	82082054	C	A	C82082054A	FASN	NM_004104.5(FASN):c.6118G>T:p.Ala2040Ser	coding	Benign
17	82082158	A	G	A82082158G	FASN	NM_004104.5(FASN):c.6014T>C:p.Val2005Ala	coding	Benign
17	82082170	C	T	C82082170T	FASN	NM_004104.5(FASN):c.6012-10G>A	noncoding	Benign
17	82082574	C	T	C82082574T	FASN	NM_004104.5(FASN):c.5872G>A:p.Glu1958Lys	coding	Benign
17	82082637	C	T	C82082637T	FASN	NM_004104.5(FASN):c.5809G>A:p.Val1937Ile	coding	Benign
17	82082682	C	T	C82082682T	FASN	NM_004104.5(FASN):c.5768-4G>A	noncoding	Benign
17	82082905	C	T	C82082905T	FASN	NM_004104.5(FASN):c.5767+9G>A	noncoding	Benign
17	82083019	T	C	T82083019C	FASN	NM_004104.5(FASN):c.5662A>G:p.Ile1888Val	coding	Benign
17	82083023	G	A	G82083023A	FASN	NM_004104.5(FASN):c.5658C>T:p.Ser1886=	coding	Benign
17	82083120	G	A	G82083120A	FASN	NM_004104.5(FASN):c.5566-5C>T	noncoding	Benign
17	82083192	C	T	C82083192T	FASN	NM_004104.5(FASN):c.5565+10G>A	noncoding	Benign
17	82083211	G	A	G82083211A	FASN	NM_004104.5(FASN):c.5556C>T:p.Val1852=	coding	Benign
17	82083232	T	C	T82083232C	FASN	NM_004104.5(FASN):c.5535A>G:p.Gln1845=	coding	Benign
17	82083355	A	T	A82083355T	FASN	NM_004104.5(FASN):c.5412T>A:p.Ser1804Arg	coding	Benign
17	82083424	G	A	G82083424A	FASN	NM_004104.5(FASN):c.5343C>T:p.Gly1781=	coding	Benign
17	82083509	G	A	G82083509A	FASN	NM_004104.5(FASN):c.5341+8C>T	noncoding	Benign
17	82083521	C	T	C82083521T	FASN	NM_004104.5(FASN):c.5337G>A:p.Pro1779=	coding	Benign
17	82083522	G	A	G82083522A	FASN	NM_004104.5(FASN):c.5336C>T:p.Pro1779Leu	coding	Benign
17	82083599	C	T	C82083599T	FASN	NM_004104.5(FASN):c.5259G>A:p.Leu1753=	coding	Benign
17	82084024	G	A	G82084024A	FASN	NM_004104.5(FASN):c.5049C>T:p.Ala1683=	coding	Benign
17	82084039	G	A	G82084039A	FASN	NM_004104.5(FASN):c.5034C>T:p.Gly1678=	coding	Benign
17	82084072	G	A	G82084072A	FASN	NM_004104.5(FASN):c.5001C>T:p.Pro1667=	coding	Benign
17	82084074	G	A	G82084074A	FASN	NM_004104.5(FASN):c.4999C>T:p.Pro1667Ser	coding	Benign
17	82084102	G	A	G82084102A	FASN	NM_004104.5(FASN):c.4971C>T:p.Tyr1657=	coding	Benign
17	82084227	C	T	C82084227T	FASN	NM_004104.5(FASN):c.4919+7G>A	noncoding	Benign
17	82084257	G	A	G82084257A	FASN	NM_004104.5(FASN):c.4896C>T:p.Phe1632=	coding	Benign
17	82084664	C	G	C82084664G	FASN	NM_004104.5(FASN):c.4617G>C:p.Gly1539=	coding	Benign
17	82084703	C	T	C82084703T	FASN	NM_004104.5(FASN):c.4578G>A:p.Glu1526=	coding	Benign
17	82084908	C	T	C82084908T	FASN	NM_004104.5(FASN):c.4455G>A:p.Glu1485=	coding	Benign
17	82085337	G	A	G82085337A	FASN	NM_004104.5(FASN):c.4188C>T:p.Tyr1396=	coding	Benign
17	82085397	C	T	C82085397T	FASN	NM_004104.5(FASN):c.4128G>A:p.Ala1376=	coding	Benign
17	82085630	G	A	G82085630A	FASN	NM_004104.5(FASN):c.3974C>T:p.Pro1325Leu	coding	Benign
17	82085673	C	T	C82085673T	FASN	NM_004104.5(FASN):c.3931G>A:p.Asp1311Asn	coding	Benign
17	82085775	G	C	G82085775C	FASN	NM_004104.5(FASN):c.3829C>G:p.Pro1277Ala	coding	Benign
17	82086304	G	A	G82086304A	FASN	NM_004104.5(FASN):c.3682C>T:p.Leu1228=	coding	Benign
17	82086317	T	G	T82086317G	FASN	NM_004104.5(FASN):c.3669A>C:p.Ala1223=	coding	Benign
17	82086350	G	A	G82086350A	FASN	NM_004104.5(FASN):c.3636C>T:p.Asp1212=	coding	Benign
17	82086431	G	C	G82086431C	FASN	NM_004104.5(FASN):c.3555C>G:p.Ala1185=	coding	Benign
17	82086488	C	T	C82086488T	FASN	NM_004104.5(FASN):c.3498G>A:p.Gly1166=	coding	Benign
17	82087042	G	A	G82087042A	FASN	NM_004104.5(FASN):c.3427+8C>T	noncoding	Benign
17	82087171	G	C	G82087171C	FASN	NM_004104.5(FASN):c.3306C>G:p.Ala1102=	coding	Benign
17	82087362	G	A	G82087362A	FASN	NM_004104.5(FASN):c.3186C>T:p.His1062=	coding	Benign
17	82087791	G	A	G82087791A	FASN	NM_004104.5(FASN):c.2937C>T:p.Pro979=	coding	Benign
17	82088005	C	T	C82088005T	FASN	NM_004104.5(FASN):c.2815G>A:p.Glu939Lys	coding	Benign
17	82088144	C	T	C82088144T	FASN	NM_004104.5(FASN):c.2757G>A:p.Leu919=	coding	Benign
17	82088180	G	A	G82088180A	FASN	NM_004104.5(FASN):c.2721C>T:p.Val907=	coding	Benign
17	82088252	G	A	G82088252A	FASN	NM_004104.5(FASN):c.2649C>T:p.Arg883=	coding	Benign
17	82088261	G	A	G82088261A	FASN	NM_004104.5(FASN):c.2640C>T:p.Leu880=	coding	Benign
17	82089008	G	A	G82089008A	FASN	NM_004104.5(FASN):c.2265C>T:p.His755=	coding	Benign
17	82089086	C	T	C82089086T	FASN	NM_004104.5(FASN):c.2187G>A:p.Thr729=	coding	Benign
17	82089118	C	T	C82089118T	FASN	NM_004104.5(FASN):c.2155G>A:p.Glu719Lys	coding	Benign/Likely_benign
17	82089153	G	A	G82089153A	FASN	NM_004104.5(FASN):c.2120C>T:p.Pro707Leu	coding	Benign
17	82089316	G	A	G82089316A	FASN	NM_004104.5(FASN):c.2034C>T:p.Gly678=	coding	Benign
17	82089382	G	A	G82089382A	FASN	NM_004104.5(FASN):c.1968C>T:p.Ala656=	coding	Benign
17	82090405	G	A	G82090405A	FASN	NM_004104.5(FASN):c.1840C>T:p.His614Tyr	coding	Benign
17	82090559	G	A	G82090559A	FASN	NM_004104.5(FASN):c.1686C>T:p.Gly562=	coding	Benign
17	82091249	C	T	C82091249T	FASN	NM_004104.5(FASN):c.1465G>A:p.Glu489Lys	coding	Benign
17	82091259	C	T	C82091259T	FASN	NM_004104.5(FASN):c.1455G>A:p.Val485=	coding	Benign
17	82091278	C	A	C82091278A	FASN	NM_004104.5(FASN):c.1436G>T:p.Gly479Val	coding	Benign
17	82091478	G	A	G82091478A	FASN	NM_004104.5(FASN):c.1236C>T:p.Pro412=	coding	Benign
17	82091484	C	T	C82091484T	FASN	NM_004104.5(FASN):c.1230G>A:p.Pro410=	coding	Benign
17	82091490	C	T	C82091490T	FASN	NM_004104.5(FASN):c.1224G>A:p.Thr408=	coding	Benign
17	82092518	G	A	G82092518A	FASN	NM_004104.5(FASN):c.966C>T:p.Ile322=	coding	Benign
17	82092689	G	T	G82092689T	FASN	NM_004104.5(FASN):c.894+8C>A	noncoding	Benign
17	82092817	G	A	G82092817A	FASN	NM_004104.5(FASN):c.779-5C>T	noncoding	Benign
17	82092928	G	A	G82092928A	FASN	NM_004104.5(FASN):c.747C>T:p.Ala249=	coding	Benign
17	82092981	G	A	G82092981A	FASN	NM_004104.5(FASN):c.694C>T:p.Leu232=	coding	Benign
17	82093250	G	A	G82093250A	FASN	NM_004104.5(FASN):c.624C>T:p.Pro208=	coding	Benign
17	82093283	G	A	G82093283A	FASN	NM_004104.5(FASN):c.591C>T:p.Ser197=	coding	Benign
17	82093322	G	A	G82093322A	FASN	NM_004104.5(FASN):c.552C>T:p.Ile184=	coding	Benign
17	82093411	T	C	T82093411C	FASN	NM_004104.5(FASN):c.463A>G:p.Ile155Val	coding	Benign
17	82096398	C	T	C82096398T	FASN	NM_004104.5(FASN):c.48G>A:p.Ser16=	coding	Benign
17	82236052	C	T	C82236052T	SLC16A3	NM_001042422.2(SLC16A3):c.44C>T:p.Ala15Val	coding	Benign
17	82237601	G	A	G82237601A	SLC16A3	NM_001042422.2(SLC16A3):c.831G>A:p.Ala277=	coding	Benign
17	82249576	G	A	G82249576A	CSNK1D	NM_139062.4(CSNK1D):c.912C>T:p.Ala304=	coding	Benign
17	82255552	G	A	G82255552A	CSNK1D	NM_139062.4(CSNK1D):c.213C>T:p.Cys71=	coding	Benign
17	82265736	T	C	T82265736C	CSNK1D	NM_139062.4(CSNK1D):c.137A>G:p.His46Arg	coding	Pathogenic
17	82265743	T	C	T82265743C	CSNK1D	NM_139062.4(CSNK1D):c.130A>G:p.Thr44Ala	coding	Pathogenic
17	82374420	C	T	C82374420T	UTS2R	NM_018949.2(UTS2R):c.96C>T:p.Leu32=	coding	Benign
17	82374685	G	T	G82374685T	UTS2R	NM_018949.2(UTS2R):c.361G>T:p.Val121Leu	coding	Benign
17	82374867	G	A	G82374867A	UTS2R	NM_018949.2(UTS2R):c.543G>A:p.Thr181=	coding	Benign
17	82415555	C	T	C82415555T	OGFOD3	NM_024648.3(OGFOD3):c.147G>A:p.Leu49=	coding	Benign
17	82419814	T	G	T82419814G	HEXD	NM_001330542.2(HEXD):c.15T>G:p.Thr5=	coding	Benign
17	82433808	A	G	A82433808G	HEXD	NM_001330542.2(HEXD):c.433A>G:p.Ile145Val	coding	Benign
17	82436654	G	T	G82436654T	HEXD	NM_001330542.2(HEXD):c.632-13G>T	noncoding	Benign
17	82447580	C	T	C82447580T	CYBC1	NM_001033046.4(CYBC1):c.127G>A:p.Asp43Asn	coding	Pathogenic
17	82449249	G	C	G82449249C	CYBC1	NM_001033046.4(CYBC1):c.6C>G:p.Tyr2Ter	coding	Pathogenic
17	82520116	C	T	C82520116T	FOXK2	NM_004514.4(FOXK2):c.228C>T:p.Ser76=	coding	Benign
17	82571738	G	T	G82571738T	FOXK2	NM_004514.4(FOXK2):c.777G>T:p.Pro259=	coding	Benign
17	82571807	C	T	C82571807T	FOXK2	NM_004514.4(FOXK2):c.846C>T:p.Asn282=	coding	Benign
17	82586043	C	T	C82586043T	FOXK2	NM_004514.4(FOXK2):c.1419C>T:p.Val473=	coding	Benign
17	82586096	C	T	C82586096T	FOXK2	NM_004514.4(FOXK2):c.1472C>T:p.Ala491Val	coding	Benign
17	82586136	G	A	G82586136A	FOXK2	NM_004514.4(FOXK2):c.1512G>A:p.Pro504=	coding	Benign
17	82586139	A	T	A82586139T	FOXK2	NM_004514.4(FOXK2):c.1515A>T:p.Ala505=	coding	Benign
17	82586142	C	T	C82586142T	FOXK2	NM_004514.4(FOXK2):c.1518C>T:p.Ala506=	coding	Benign
17	82586203	A	G	A82586203G	FOXK2	NM_004514.4(FOXK2):c.1576+3A>G	noncoding	Benign
17	82587130	G	A	G82587130A	FOXK2	NM_004514.4(FOXK2):c.1644G>A:p.Thr548=	coding	Benign
17	82587154	G	A	G82587154A	FOXK2	NM_004514.4(FOXK2):c.1668G>A:p.Thr556=	coding	Benign
17	82601390	A	C	A82601390C	FOXK2	NM_004514.4(FOXK2):c.1874A>C:p.Glu625Ala	coding	Benign
17	82601415	G	C	G82601415C	FOXK2	NM_004514.4(FOXK2):c.1899G>C:p.Lys633Asn	coding	Benign
17	82616012	G	A	G82616012A	WDR45B	NM_019613.4(WDR45B):c.942C>T:p.Asp314=	coding	Benign
17	82617303	G	A	G82617303A	WDR45B	NM_019613.4(WDR45B):c.799C>T:p.Gln267Ter	coding	Pathogenic
17	82617355	G	A	G82617355A	WDR45B	NM_019613.4(WDR45B):c.747C>T:p.Ser249=	coding	Benign
17	82619074	G	A	G82619074A	WDR45B	NM_019613.4(WDR45B):c.673C>T:p.Arg225Ter	coding	Pathogenic/Likely_pathogenic
17	82644032	G	A	G82644032A	WDR45B	NM_019613.4(WDR45B):c.68-9C>T	noncoding	Benign
17	82648324	C	T	C82648324T	WDR45B	NM_019613.4(WDR45B):c.17G>A:p.Cys6Tyr	coding	Benign
17	82781636	T	G	T82781636G	TBCD	NM_005993.5(TBCD):c.686T>G:p.Leu229Arg	coding	Pathogenic
17	82805891	C	T	C82805891T	TBCD	NM_005993.5(TBCD):c.967C>T:p.Arg323Ter	coding	Pathogenic/Likely_pathogenic
17	82805912	C	T	C82805912T	TBCD	NM_005993.5(TBCD):c.988C>T:p.Gln330Ter	coding	Pathogenic
17	82805917	C	T	C82805917T	TBCD	NM_005993.5(TBCD):c.993C>T:p.Leu331=	coding	Benign
17	82805968	C	T	C82805968T	TBCD	NM_005993.5(TBCD):c.1044C>T:p.Asp348=	coding	Benign
17	82805971	C	T	C82805971T	TBCD	NM_005993.5(TBCD):c.1047C>T:p.Asp349=	coding	Benign
17	82807615	G	T	G82807615T	TBCD	NM_005993.5(TBCD):c.1095G>T:p.Leu365=	coding	Benign
17	82807650	G	A	G82807650A	TBCD	NM_005993.5(TBCD):c.1130G>A:p.Arg377Gln	coding	Pathogenic
17	82809719	T	G	T82809719G	TBCD	NM_005993.5(TBCD):c.1160T>G:p.Met387Arg	coding	Pathogenic
17	82814861	G	A	G82814861A	TBCD	NM_005993.5(TBCD):c.1245G>A:p.Ala415=	coding	Benign
17	82830850	A	C	A82830850C	ZNF750	NM_024702.3(ZNF750):c.1464T>G:p.Pro488=	coding	Benign
17	82831023	C	T	C82831023T	ZNF750	NM_024702.3(ZNF750):c.1432G>A:p.Val478Ile	coding	Benign
17	82831150	G	C	G82831150C	ZNF750	NM_024702.3(ZNF750):c.1305C>G:p.Asn435Lys	coding	Benign
17	82831626	C	T	C82831626T	ZNF750	NM_024702.3(ZNF750):c.829G>A:p.Gly277Arg	coding	Benign
17	82831960	G	A	G82831960A	ZNF750	NM_024702.3(ZNF750):c.495C>T:p.Val165=	coding	Benign
17	82832090	G	T	G82832090T	ZNF750	NM_024702.3(ZNF750):c.365C>A:p.Thr122Asn	coding	Benign
17	82832178	T	C	T82832178C	ZNF750	NM_024702.3(ZNF750):c.277A>G:p.Asn93Asp	coding	Benign
17	82870228	C	T	C82870228T	TBCD	NM_005993.5(TBCD):c.1323C>T:p.Val441=	coding	Benign
17	82870328	G	A	G82870328A	TBCD	NM_005993.5(TBCD):c.1423G>A:p.Ala475Thr	coding	Pathogenic
17	82870372	A	G	A82870372G	TBCD	NM_005993.5(TBCD):c.1467A>G:p.Ala489=	coding	Benign
17	82889664	G	A	G82889664A	TBCD	NM_005993.5(TBCD):c.1534-4G>A	noncoding	Benign/Likely_benign
17	82893535	C	G	C82893535G	TBCD	NM_005993.5(TBCD):c.1564-12C>G	noncoding	Pathogenic
17	82900662	C	T	C82900662T	TBCD	NM_005993.5(TBCD):c.1661C>T:p.Ala554Val	coding	Pathogenic/Likely_pathogenic
17	82903402	C	T	C82903402T	TBCD	NM_005993.5(TBCD):c.1731-3C>T	noncoding	Benign
17	82906007	G	A	G82906007A	TBCD	NM_005993.5(TBCD):c.1876G>A:p.Ala626Thr	coding	Pathogenic
17	82909312	G	A	G82909312A	TBCD	NM_005993.5(TBCD):c.2006+5G>A	noncoding	Pathogenic
17	82911752	T	C	T82911752C	TBCD	NM_005993.5(TBCD):c.2007-6T>C	noncoding	Benign
17	82920553	C	T	C82920553T	TBCD	NM_005993.5(TBCD):c.2039-3C>T	noncoding	Benign
17	82921541	C	G	C82921541G	TBCD	NM_005993.5(TBCD):c.2142C>G:p.Leu714=	coding	Benign
17	82924958	C	A	C82924958A	TBCD	NM_005993.5(TBCD):c.2280C>A:p.Tyr760Ter	coding	Pathogenic
17	82924992	C	T	C82924992T	TBCD	NM_005993.5(TBCD):c.2314C>T:p.Arg772Cys	coding	Pathogenic
17	82927917	C	T	C82927917T	TBCD	NM_005993.5(TBCD):c.2622C>T:p.Ala874=	coding	Benign
17	82927989	G	A	G82927989A	TBCD	NM_005993.5(TBCD):c.2693+1G>A	coding	Pathogenic
17	82929180	G	A	G82929180A	TBCD	NM_005993.5(TBCD):c.2761G>A:p.Ala921Thr	coding	Pathogenic
17	82929229	C	G	C82929229G	TBCD	NM_005993.5(TBCD):c.2810C>G:p.Pro937Arg	coding	Pathogenic
17	82929247	G	T	G82929247T	TBCD	NM_005993.5(TBCD):c.2828G>T:p.Gly943Val	coding	Benign
17	82929411	C	T	C82929411T	TBCD	NM_005993.5(TBCD):c.2902C>T:p.Arg968Cys	coding	Benign
17	82930596	C	T	C82930596T	TBCD	NM_005993.5(TBCD):c.3066C>T:p.Phe1022=	coding	Benign
17	82930599	C	T	C82930599T	TBCD	NM_005993.5(TBCD):c.3069C>T:p.Ser1023=	coding	Benign
17	82937295	T	C	T82937295C	TBCD	NM_005993.5(TBCD):c.3216T>C:p.Leu1072=	coding	Benign
17	82937331	T	C	T82937331C	TBCD	NM_005993.5(TBCD):c.3252T>C:p.Asp1084=	coding	Benign
17	82937355	C	G	C82937355G	TBCD	NM_005993.5(TBCD):c.3276C>G:p.Ile1092Met	coding	Benign
17	82938044	G	A	G82938044A	TBCD	NM_005993.5(TBCD):c.3282-5G>A	noncoding	Benign
17	82941437	G	A	G82941437A	TBCD	NM_005993.5(TBCD):c.3518G>A:p.Arg1173His	coding	Benign
17	82941456	C	T	C82941456T	TBCD	NM_005993.5(TBCD):c.3537C>T:p.Gly1179=	coding	Benign
17	82941473	T	C	T82941473C	TBCD	NM_005993.5(TBCD):c.3554T>C:p.Leu1185Pro	coding	Benign
17	82941480	C	T	C82941480T	TBCD	NM_005993.5(TBCD):c.3561C>T:p.Pro1187=	coding	Benign
17	82957382	A	G	A82957382G	B3GNTL1	NM_001009905.2(B3GNTL1):c.838T>C:p.Leu280=	coding	Benign
17	83084998	G	A	G83084998A	METRNL	NM_001004431.3(METRNL):c.231G>A:p.Ala77=	coding	Benign
17	83085192	A	G	A83085192G	METRNL	NM_001004431.3(METRNL):c.425A>G:p.Gln142Arg	coding	Benign
17	83094284	C	A	C83094284A	METRNL	NM_001004431.3(METRNL):c.645C>A:p.Thr215=	coding	Benign
17	83094385	A	G	A83094385G	METRNL	NM_001004431.3(METRNL):c.746A>G:p.His249Arg	coding	Benign
18	163396	G	A	G163396A	USP14	NM_005151.4(USP14):c.105G>A:p.Ala35=	coding	Benign
18	204602	G	C	G204602C	USP14	NM_005151.4(USP14):c.1074G>C:p.Leu358=	coding	Benign
18	210453	T	C	T210453C	USP14	NM_005151.4(USP14):c.1293T>C:p.Ser431=	coding	Benign
18	211194	G	T	G211194T	USP14	NM_005151.4(USP14):c.1395G>T:p.Arg465=	coding	Benign
18	334803	T	C	T334803C	COLEC12	NM_130386.3(COLEC12):c.1755A>G:p.Pro585=	coding	Benign
18	357427	T	C	T357427C	COLEC12	NM_130386.3(COLEC12):c.154A>G:p.Ile52Val	coding	Benign
18	2587844	C	T	C2587844T	NDC80	NM_006101.3(NDC80):c.684C>T:p.Tyr228=	coding	Benign
18	2595630	T	A	T2595630A	NDC80	NM_006101.3(NDC80):c.1221+9T>A	noncoding	Benign
18	2610783	G	A	G2610783A	NDC80	NM_006101.3(NDC80):c.1713G>A:p.Thr571=	coding	Benign
18	2656162	C	A	C2656162A	SMCHD1	NM_015295.3(SMCHD1):c.87C>A:p.Tyr29Ter	coding	Pathogenic
18	2656249	G	C	G2656249C	SMCHD1	NM_015295.2(SMCHD1):c.174G>C:p.Ala58=	coding	Benign
18	2666927	T	C	T2666927C	SMCHD1	NM_015295.2(SMCHD1):c.320T>C:p.Leu107Pro	coding	Pathogenic
18	2666928	A	G	A2666928G	SMCHD1	NM_015295.2(SMCHD1):c.321A>G:p.Leu107=	coding	Benign
18	2666993	T	A	T2666993A	SMCHD1	NM_015295.2(SMCHD1):c.386T>A:p.Met129Lys	coding	Pathogenic
18	2667006	T	C	T2667006C	SMCHD1	NM_015295.2(SMCHD1):c.399T>C:p.Tyr133=	coding	Benign
18	2667010	A	T	A2667010T	SMCHD1	NM_015295.2(SMCHD1):c.403A>T:p.Ser135Cys	coding	Pathogenic
18	2667011	G	A	G2667011A	SMCHD1	NM_015295.2(SMCHD1):c.404G>A:p.Ser135Asn	coding	Pathogenic
18	2667011	G	T	G2667011T	SMCHD1	NM_015295.2(SMCHD1):c.404G>T:p.Ser135Ile	coding	Pathogenic
18	2667015	A	C	A2667015C	SMCHD1	NM_015295.2(SMCHD1):c.408A>C:p.Glu136Asp	coding	Pathogenic
18	2667017	G	A	G2667017A	SMCHD1	NM_015295.2(SMCHD1):c.410G>A:p.Gly137Glu	coding	Pathogenic
18	2667022	A	C	A2667022C	SMCHD1	NM_015295.2(SMCHD1):c.415A>C:p.Asn139His	coding	Pathogenic
18	2667030	G	C	G2667030C	SMCHD1	NM_015295.2(SMCHD1):c.423G>C:p.Leu141Phe	coding	Pathogenic
18	2667030	G	T	G2667030T	SMCHD1	NM_015295.2(SMCHD1):c.423G>T:p.Leu141Phe	coding	Pathogenic
18	2667032	G	A	G2667032A	SMCHD1	NM_015295.2(SMCHD1):c.424+1G>A	coding	Pathogenic
18	2674018	T	G	T2674018G	SMCHD1	NM_015295.2(SMCHD1):c.511T>G:p.Phe171Val	coding	Pathogenic
18	2674029	A	G	A2674029G	SMCHD1	NM_015295.3(SMCHD1):c.522A>G:p.Thr174=	coding	Benign
18	2688480	C	G	C2688480G	SMCHD1	NM_015295.2(SMCHD1):c.725C>G:p.Ala242Gly	coding	Pathogenic
18	2688722	A	G	A2688722G	SMCHD1	NM_015295.2(SMCHD1):c.848A>G:p.Tyr283Cys	coding	Pathogenic
18	2688754	T	C	T2688754C	SMCHD1	NM_015295.2(SMCHD1):c.873+7T>C	noncoding	Benign
18	2694683	C	T	C2694683T	SMCHD1	NM_015295.2(SMCHD1):c.1030C>T:p.Arg344Ter	coding	Pathogenic
18	2694687	A	G	A2694687G	SMCHD1	NM_015295.2(SMCHD1):c.1034A>G:p.Gln345Arg	coding	Pathogenic
18	2694694	G	A	G2694694A	SMCHD1	NM_015295.2(SMCHD1):c.1040+1G>A	coding	Pathogenic
18	2697034	A	G	A2697034G	SMCHD1	NM_015295.2(SMCHD1):c.1043A>G:p.His348Arg	coding	Pathogenic
18	2697885	C	T	C2697885T	SMCHD1	NM_015295.2(SMCHD1):c.1186C>T:p.Gln396Ter	coding	Pathogenic
18	2697898	A	T	A2697898T	SMCHD1	NM_015295.2(SMCHD1):c.1199A>T:p.Gln400Leu	coding	Pathogenic
18	2697958	A	T	A2697958T	SMCHD1	NM_015295.2(SMCHD1):c.1259A>T:p.Asp420Val	coding	Pathogenic
18	2700613	G	C	G2700613C	SMCHD1	NM_015295.2(SMCHD1):c.1417G>C:p.Glu473Gln	coding	Pathogenic
18	2700615	A	G	A2700615G	SMCHD1	NM_015295.2(SMCHD1):c.1419A>G:p.Glu473=	coding	Benign/Likely_benign
18	2700839	C	A	C2700839A	SMCHD1	NM_015295.2(SMCHD1):c.1568C>A:p.Thr523Lys	coding	Pathogenic
18	2700842	A	G	A2700842G	SMCHD1	NM_015295.2(SMCHD1):c.1571A>G:p.Asn524Ser	coding	Pathogenic
18	2700851	C	T	C2700851T	SMCHD1	NM_015295.2(SMCHD1):c.1580C>T:p.Thr527Met	coding	Pathogenic
18	2703698	C	T	C2703698T	SMCHD1	NM_015295.3(SMCHD1):c.1654C>T:p.Arg552Ter	coding	Pathogenic
18	2703733	G	A	G2703733A	SMCHD1	NM_015295.2(SMCHD1):c.1689G>A:p.Leu563=	coding	Benign
18	2703775	A	G	A2703775G	SMCHD1	NM_015295.3(SMCHD1):c.1731A>G:p.Thr577=	coding	Benign
18	2705693	G	A	G2705693A	SMCHD1	NM_015295.2(SMCHD1):c.1843-1G>A	noncoding	Pathogenic
18	2705702	A	G	A2705702G	SMCHD1	NM_015295.2(SMCHD1):c.1851A>G:p.Thr617=	coding	Benign
18	2705814	C	T	C2705814T	SMCHD1	NM_015295.2(SMCHD1):c.1956+7C>T	noncoding	Benign/Likely_benign
18	2707567	C	T	C2707567T	SMCHD1	NM_015295.2(SMCHD1):c.2068C>T:p.Pro690Ser	coding	Pathogenic
18	2707621	G	A	G2707621A	SMCHD1	NM_015295.2(SMCHD1):c.2122G>A:p.Val708Ile	coding	Benign
18	2707800	C	T	C2707800T	SMCHD1	NM_015295.2(SMCHD1):c.2147-7C>T	noncoding	Benign/Likely_benign
18	2707802	C	T	C2707802T	SMCHD1	NM_015295.2(SMCHD1):c.2147-5C>T	noncoding	Benign
18	2724932	A	T	A2724932T	SMCHD1	NM_015295.2(SMCHD1):c.2637A>T:p.Lys879Asn	coding	Benign
18	2728561	A	G	A2728561G	SMCHD1	NM_015295.2(SMCHD1):c.2878A>G:p.Ile960Val	coding	Benign
18	2728602	C	G	C2728602G	SMCHD1	NM_015295.2(SMCHD1):c.2913+6C>G	noncoding	Benign/Likely_benign
18	2732354	A	T	A2732354T	SMCHD1	NM_015295.3(SMCHD1):c.3138A>T:p.Gly1046=	coding	Benign
18	2739490	C	T	C2739490T	SMCHD1	NM_015295.2(SMCHD1):c.3484C>T:p.Gln1162Ter	coding	Pathogenic
18	2740707	A	G	A2740707G	SMCHD1	NM_015295.2(SMCHD1):c.3519A>G:p.Ile1173Met	coding	Benign
18	2740716	A	G	A2740716G	SMCHD1	NM_015295.2(SMCHD1):c.3528A>G:p.Thr1176=	coding	Benign
18	2740800	A	T	A2740800T	SMCHD1	NM_015295.2(SMCHD1):c.3612A>T:p.Ser1204=	coding	Benign
18	2743929	G	A	G2743929A	SMCHD1	NM_015295.2(SMCHD1):c.3801+1G>A	coding	Pathogenic
18	2747506	T	G	T2747506G	SMCHD1	NM_015295.2(SMCHD1):c.3802-16T>G	noncoding	Benign
18	2750446	C	T	C2750446T	SMCHD1	NM_015295.2(SMCHD1):c.4104C>T:p.Pro1368=	coding	Benign
18	2750479	A	G	A2750479G	SMCHD1	NM_015295.2(SMCHD1):c.4137A>G:p.Ala1379=	coding	Benign
18	2762129	C	T	C2762129T	SMCHD1	NM_015295.2(SMCHD1):c.4459C>T:p.Gln1487Ter	coding	Pathogenic
18	2762236	G	A	G2762236A	SMCHD1	NM_015295.2(SMCHD1):c.4566G>A:p.Thr1522=	coding	Pathogenic
18	2763699	C	T	C2763699T	SMCHD1	NM_015295.2(SMCHD1):c.4629C>T:p.Gly1543=	coding	Benign
18	2769782	C	T	C2769782T	SMCHD1	NM_015295.2(SMCHD1):c.4808C>T:p.Thr1603Ile	coding	Benign
18	2770040	T	G	T2770040G	SMCHD1	NM_015295.2(SMCHD1):c.4898T>G:p.Leu1633Ter	coding	Pathogenic
18	2771518	G	T	G2771518T	SMCHD1	NM_015295.2(SMCHD1):c.4967-15G>T	noncoding	Benign
18	2777925	A	G	A2777925G	SMCHD1	NM_015295.2(SMCHD1):c.5476+10A>G	noncoding	Benign
18	2778240	G	C	G2778240C	SMCHD1	NM_015295.2(SMCHD1):c.5547+1G>C	coding	Pathogenic
18	2802559	A	G	A2802559G	SMCHD1	NM_015295.2(SMCHD1):c.*7A>G	noncoding	Benign
18	2885112	C	T	C2885112T	EMILIN2	NM_032048.3(EMILIN2):c.406C>T:p.Pro136Ser	coding	Benign
18	2890718	G	A	G2890718A	EMILIN2	NM_032048.3(EMILIN2):c.591G>A:p.Thr197=	coding	Benign
18	2890770	G	A	G2890770A	EMILIN2	NM_032048.3(EMILIN2):c.643G>A:p.Ala215Thr	coding	Benign
18	2890855	C	A	C2890855A	EMILIN2	NM_032048.3(EMILIN2):c.728C>A:p.Thr243Lys	coding	Benign
18	2890902	A	G	A2890902G	EMILIN2	NM_032048.3(EMILIN2):c.775A>G:p.Met259Val	coding	Benign
18	2891168	G	A	G2891168A	EMILIN2	NM_032048.3(EMILIN2):c.1041G>A:p.Lys347=	coding	Benign
18	2891375	C	T	C2891375T	EMILIN2	NM_032048.3(EMILIN2):c.1248C>T:p.Ile416=	coding	Benign
18	2891492	A	G	A2891492G	EMILIN2	NM_032048.3(EMILIN2):c.1365A>G:p.Ala455=	coding	Benign
18	2892098	G	A	G2892098A	EMILIN2	NM_032048.3(EMILIN2):c.1971G>A:p.Pro657=	coding	Benign
18	2906952	G	A	G2906952A	EMILIN2	NM_032048.3(EMILIN2):c.2529G>A:p.Gly843=	coding	Benign
18	2906985	C	G	C2906985G	EMILIN2	NM_032048.3(EMILIN2):c.2562C>G:p.Pro854=	coding	Benign
18	2908958	C	T	C2908958T	EMILIN2	NM_032048.3(EMILIN2):c.2678C>T:p.Pro893Leu	coding	Benign
18	2913248	C	T	C2913248T	EMILIN2	NM_032048.3(EMILIN2):c.3006C>T:p.Cys1002=	coding	Benign
18	2913359	C	T	C2913359T	EMILIN2	NM_032048.3(EMILIN2):c.3117C>T:p.Ser1039=	coding	Benign
18	2917154	T	C	T2917154C	LPIN2	NM_014646.2(LPIN2):c.*3139A>G	noncoding	Benign
18	2917225	T	A	T2917225A	LPIN2	NM_014646.2(LPIN2):c.*3068A>T	noncoding	Benign
18	2917278	A	G	A2917278G	LPIN2	NM_014646.2(LPIN2):c.*3015T>C	noncoding	Benign
18	2917347	C	T	C2917347T	LPIN2	NM_014646.2(LPIN2):c.*2946G>A	noncoding	Benign
18	2917359	G	A	G2917359A	LPIN2	NM_014646.2(LPIN2):c.*2934C>T	noncoding	Benign
18	2917370	G	A	G2917370A	LPIN2	NM_014646.2(LPIN2):c.*2923C>T	noncoding	Benign
18	2917471	G	A	G2917471A	LPIN2	NM_014646.2(LPIN2):c.*2822C>T	noncoding	Benign
18	2917800	G	C	G2917800C	LPIN2	NM_014646.2(LPIN2):c.*2493C>G	noncoding	Benign
18	2918052	A	G	A2918052G	LPIN2	NM_014646.2(LPIN2):c.*2241T>C	noncoding	Benign
18	2918602	T	C	T2918602C	LPIN2	NM_014646.2(LPIN2):c.*1691A>G	noncoding	Benign
18	2918671	A	G	A2918671G	LPIN2	NM_014646.2(LPIN2):c.*1622T>C	noncoding	Benign
18	2918791	C	T	C2918791T	LPIN2	NM_014646.2(LPIN2):c.*1502G>A	noncoding	Benign
18	2919211	C	T	C2919211T	LPIN2	NM_001375808.2(LPIN2):c.*1082G>A	noncoding	Benign
18	2919241	A	G	A2919241G	LPIN2	NM_014646.2(LPIN2):c.*1052T>C	noncoding	Benign
18	2919343	T	G	T2919343G	LPIN2	NM_014646.2(LPIN2):c.*950A>C	noncoding	Benign
18	2919496	A	C	A2919496C	LPIN2	NM_014646.2(LPIN2):c.*797T>G	noncoding	Benign
18	2919570	T	C	T2919570C	LPIN2	NM_014646.2(LPIN2):c.*723A>G	noncoding	Benign
18	2919594	T	C	T2919594C	LPIN2	NM_001375808.2(LPIN2):c.*699A>G	noncoding	Benign
18	2919608	A	T	A2919608T	LPIN2	NM_014646.2(LPIN2):c.*685T>A	noncoding	Benign
18	2919636	T	G	T2919636G	LPIN2	NM_014646.2(LPIN2):c.*657A>C	noncoding	Benign
18	2919656	C	T	C2919656T	LPIN2	NM_014646.2(LPIN2):c.*637G>A	noncoding	Benign
18	2919736	C	T	C2919736T	LPIN2	NM_014646.2(LPIN2):c.*557G>A	noncoding	Benign
18	2919792	A	G	A2919792G	LPIN2	NM_014646.2(LPIN2):c.*501T>C	noncoding	Benign
18	2920194	G	A	G2920194A	LPIN2	NM_014646.2(LPIN2):c.*99C>T	noncoding	Benign
18	2920290	G	A	G2920290A	LPIN2	NM_014646.2(LPIN2):c.*3C>T	noncoding	Benign
18	2920448	G	A	G2920448A	LPIN2	NM_014646.2(LPIN2):c.2547-11C>T	noncoding	Benign
18	2922036	C	T	C2922036T	LPIN2	NM_014646.2(LPIN2):c.2327+11G>A	noncoding	Benign/Likely_benign
18	2922046	C	G	C2922046G	LPIN2	NM_014646.2(LPIN2):c.2327+1G>C	noncoding	Pathogenic
18	2922058	G	A	G2922058A	LPIN2	NM_014646.2(LPIN2):c.2316C>T:p.Ser772=	coding	Benign/Likely_benign
18	2922151	G	A	G2922151A	LPIN2	NM_014646.2(LPIN2):c.2223C>T:p.Ala741=	coding	Benign
18	2922173	G	A	G2922173A	LPIN2	NM_014646.2(LPIN2):c.2201C>T:p.Ser734Leu	coding	Pathogenic
18	2925295	G	A	G2925295A	LPIN2	NM_014646.2(LPIN2):c.1867C>T:p.Pro623Ser	coding	Benign
18	2925347	C	T	C2925347T	LPIN2	NM_014646.2(LPIN2):c.1815G>A:p.Ser605=	coding	Benign/Likely_benign
18	2925361	C	T	C2925361T	LPIN2	NM_014646.2(LPIN2):c.1801G>A:p.Glu601Lys	coding	Benign/Likely_benign
18	2925377	C	T	C2925377T	LPIN2	NM_014646.2(LPIN2):c.1794-9G>A	noncoding	Benign
18	2926463	T	C	T2926463C	LPIN2	NM_014646.2(LPIN2):c.1793+260A>G	noncoding	Benign
18	2926464	G	A	G2926464A	LPIN2	NM_014646.2(LPIN2):c.1793+259C>T	noncoding	Benign
18	2926481	C	T	C2926481T	LPIN2	NM_014646.2(LPIN2):c.1793+242G>A	noncoding	Benign
18	2926706	G	A	G2926706A	LPIN2	NM_014646.2(LPIN2):c.1793+17C>T	noncoding	Benign
18	2927025	G	T	G2927025T	LPIN2	NM_014646.2(LPIN2):c.1711-220C>A	noncoding	Benign
18	2928617	G	A	G2928617A	LPIN2	NM_014646.2(LPIN2):c.1594C>T:p.Gln532Ter	coding	Pathogenic
18	2931227	T	C	T2931227C	LPIN2	NM_014646.2(LPIN2):c.1456+29A>G	noncoding	Benign
18	2931302	G	A	G2931302A	LPIN2	NM_014646.2(LPIN2):c.1410C>T:p.Thr470=	coding	Benign
18	2931692	G	A	G2931692A	LPIN2	NM_014646.2(LPIN2):c.1269-249C>T	noncoding	Benign
18	2937402	G	A	G2937402A	LPIN2	NM_014646.2(LPIN2):c.1168+290C>T	noncoding	Benign
18	2937648	A	G	A2937648G	LPIN2	NM_014646.2(LPIN2):c.1168+44T>C	noncoding	Benign
18	2937681	C	G	C2937681G	LPIN2	NM_014646.2(LPIN2):c.1168+11G>C	noncoding	Benign
18	2937701	T	C	T2937701C	LPIN2	NM_014646.2(LPIN2):c.1159A>G:p.Lys387Glu	coding	Benign/Likely_benign
18	2937849	G	A	G2937849A	LPIN2	NM_014646.2(LPIN2):c.1011C>T:p.Ser337=	coding	Benign/Likely_benign
18	2938240	C	T	C2938240T	LPIN2	NM_014646.2(LPIN2):c.823-203G>A	noncoding	Benign
18	2940695	G	A	G2940695A	LPIN2	NM_014646.2(LPIN2):c.608C>T:p.Ser203Phe	coding	Benign/Likely_benign
18	2951049	T	C	T2951049C	LPIN2	NM_014646.2(LPIN2):c.590+6A>G	noncoding	Benign
18	2951056	G	A	G2951056A	LPIN2	NM_014646.2(LPIN2):c.589C>T:p.Arg197Ter	coding	Pathogenic
18	2951176	G	A	G2951176A	LPIN2	NM_014646.2(LPIN2):c.469C>T:p.Arg157Ter	coding	Pathogenic
18	2960694	G	A	G2960694A	LPIN2	NM_014646.2(LPIN2):c.147C>T:p.His49=	coding	Benign
18	2960721	A	G	A2960721G	LPIN2	NM_014646.2(LPIN2):c.120T>C:p.Asp40=	coding	Benign
18	2961035	T	A	T2961035A	LPIN2	NM_014646.2(LPIN2):c.-9-186A>T	noncoding	Benign
18	3011744	G	C	G3011744C	LPIN2	NM_014646.2(LPIN2):c.-36C>G	noncoding	Benign
18	3011745	G	C	G3011745C	LPIN2	NM_014646.2(LPIN2):c.-37C>G	noncoding	Benign
18	3011774	G	A	G3011774A	LPIN2	NM_014646.2(LPIN2):c.-66C>T	noncoding	Benign/Likely_benign
18	3067280	A	G	A3067280G	MYOM1	NM_003803.4(MYOM1):c.5040T>C:p.Gly1680=	coding	Benign
18	3067301	G	A	G3067301A	MYOM1	NM_003803.3(MYOM1):c.5019C>T:p.Ala1673=	coding	Benign/Likely_benign
18	3067359	G	A	G3067359A	MYOM1	NM_003803.3(MYOM1):c.4961C>T:p.Ser1654Leu	coding	Benign
18	3067544	G	C	G3067544C	MYOM1	NM_003803.4(MYOM1):c.4776C>G:p.Leu1592=	coding	Benign/Likely_benign
18	3071824	T	C	T3071824C	MYOM1	NM_003803.3(MYOM1):c.4764+10A>G	noncoding	Benign
18	3071880	C	T	C3071880T	MYOM1	NM_003803.4(MYOM1):c.4718G>A:p.Arg1573Gln	coding	Benign
18	3075714	C	A	C3075714A	MYOM1	NM_003803.4(MYOM1):c.4685+11G>T	noncoding	Benign
18	3075748	G	A	G3075748A	MYOM1	NM_003803.4(MYOM1):c.4662C>T:p.Ala1554=	coding	Benign
18	3079170	T	A	T3079170A	MYOM1	NM_003803.3(MYOM1):c.4648+9A>T	noncoding	Benign
18	3084009	A	G	A3084009G	MYOM1	NM_003803.4(MYOM1):c.4358T>C:p.Met1453Thr	coding	Benign
18	3086067	C	T	C3086067T	MYOM1	NM_003803.4(MYOM1):c.4222G>A:p.Asp1408Asn	coding	Benign
18	3089524	G	T	G3089524T	MYOM1	NM_003803.4(MYOM1):c.4069+13C>A	noncoding	Benign
18	3089533	T	G	T3089533G	MYOM1	NM_003803.4(MYOM1):c.4069+4A>C	noncoding	Benign
18	3090722	C	T	C3090722T	MYOM1	NM_003803.4(MYOM1):c.3945G>A:p.Thr1315=	coding	Benign
18	3094193	C	T	C3094193T	MYOM1	NM_003803.4(MYOM1):c.3841G>A:p.Glu1281Lys	coding	Benign
18	3094215	G	A	G3094215A	MYOM1	NM_003803.3(MYOM1):c.3819C>T:p.Ala1273=	coding	Benign
18	3100363	T	C	T3100363C	MYOM1	NM_003803.3(MYOM1):c.3639A>G:p.Thr1213=	coding	Benign/Likely_benign
18	3100431	G	A	G3100431A	MYOM1	NM_003803.4(MYOM1):c.3576-5C>T	noncoding	Benign
18	3102477	T	C	T3102477C	MYOM1	NM_003803.4(MYOM1):c.3572A>G:p.Asn1191Ser	coding	Benign/Likely_benign
18	3102510	T	C	T3102510C	MYOM1	NM_003803.4(MYOM1):c.3539A>G:p.Asp1180Gly	coding	Benign/Likely_benign
18	3102548	G	A	G3102548A	MYOM1	NM_003803.3(MYOM1):c.3501C>T:p.Ser1167=	coding	Benign
18	3102556	G	A	G3102556A	MYOM1	NM_003803.4(MYOM1):c.3493C>T:p.Pro1165Ser	coding	Benign
18	3102596	A	T	A3102596T	MYOM1	NM_003803.4(MYOM1):c.3453T>A:p.Asp1151Glu	coding	Benign
18	3112304	G	A	G3112304A	MYOM1	NM_003803.3(MYOM1):c.3412C>T:p.Arg1138Cys	coding	Benign
18	3116427	C	T	C3116427T	MYOM1	NM_003803.3(MYOM1):c.3207G>A:p.Pro1069=	coding	Benign
18	3116439	G	C	G3116439C	MYOM1	NM_003803.4(MYOM1):c.3195C>G:p.Ser1065=	coding	Benign
18	3126693	G	T	G3126693T	MYOM1	NM_003803.3(MYOM1):c.2991+8C>A	noncoding	Benign
18	3126813	A	G	A3126813G	MYOM1	NM_003803.4(MYOM1):c.2879T>C:p.Ile960Thr	coding	Benign
18	3126890	T	C	T3126890C	MYOM1	NM_003803.4(MYOM1):c.2802A>G:p.Pro934=	coding	Benign
18	3129299	C	T	C3129299T	MYOM1	NM_003803.4(MYOM1):c.2727G>A:p.Pro909=	coding	Benign/Likely_benign
18	3129311	T	C	T3129311C	MYOM1	NM_003803.3(MYOM1):c.2715A>G:p.Glu905=	coding	Benign
18	3129353	C	G	C3129353G	MYOM1	NM_003803.4(MYOM1):c.2673G>C:p.Leu891=	coding	Benign
18	3129401	A	G	A3129401G	MYOM1	NM_003803.3(MYOM1):c.2625T>C:p.Leu875=	coding	Benign
18	3131412	G	C	G3131412C	MYOM1	NM_003803.3(MYOM1):c.2469C>G:p.Ser823=	coding	Benign
18	3134646	T	A	T3134646A	MYOM1	NM_003803.4(MYOM1):c.2384+4A>T	noncoding	Benign/Likely_benign
18	3134828	A	C	A3134828C	MYOM1	NM_003803.4(MYOM1):c.2210-4T>G	noncoding	Benign
18	3135575	C	T	C3135575T	MYOM1	NM_003803.3(MYOM1):c.2181G>A:p.Thr727=	coding	Benign
18	3135577	T	C	T3135577C	MYOM1	NM_003803.4(MYOM1):c.2179A>G:p.Thr727Ala	coding	Benign
18	3135646	C	T	C3135646T	MYOM1	NM_003803.4(MYOM1):c.2110G>A:p.Glu704Lys	coding	Benign
18	3135694	T	A	T3135694A	MYOM1	NM_003803.4(MYOM1):c.2062A>T:p.Thr688Ser	coding	Benign/Likely_benign
18	3149142	T	G	T3149142G	MYOM1	NM_003803.4(MYOM1):c.1900+3A>C	noncoding	Benign
18	3149155	C	T	C3149155T	MYOM1	NM_003803.4(MYOM1):c.1890G>A:p.Glu630=	coding	Benign
18	3149167	A	G	A3149167G	MYOM1	NM_003803.4(MYOM1):c.1878T>C:p.Ile626=	coding	Benign
18	3151684	A	C	A3151684C	MYOM1	NM_003803.4(MYOM1):c.1843+10T>G	noncoding	Benign
18	3151734	G	A	G3151734A	MYOM1	NM_003803.4(MYOM1):c.1803C>T:p.Pro601=	coding	Benign
18	3151738	T	A	T3151738A	MYOM1	NM_003803.4(MYOM1):c.1799A>T:p.Glu600Val	coding	Benign
18	3155100	G	A	G3155100A	MYOM1	NM_003803.4(MYOM1):c.1502-12C>T	noncoding	Benign
18	3164324	C	G	C3164324G	MYOM1	NM_003803.4(MYOM1):c.1455G>C:p.Arg485=	coding	Benign
18	3164387	C	T	C3164387T	MYOM1	NM_003803.4(MYOM1):c.1392G>A:p.Arg464=	coding	Benign
18	3168818	G	A	G3168818A	MYOM1	NM_003803.4(MYOM1):c.1338C>T:p.Asn446=	coding	Benign
18	3173952	G	A	G3173952A	MYOM1	NM_003803.4(MYOM1):c.1160C>T:p.Thr387Ile	coding	Benign
18	3173966	G	A	G3173966A	MYOM1	NM_003803.4(MYOM1):c.1146C>T:p.His382=	coding	Benign
18	3174011	A	G	A3174011G	MYOM1	NM_003803.4(MYOM1):c.1112-11T>C	noncoding	Benign
18	3176042	C	G	C3176042G	MYOM1	NM_003803.4(MYOM1):c.1022G>C:p.Gly341Ala	coding	Benign
18	3176065	C	T	C3176065T	MYOM1	NM_003803.4(MYOM1):c.999G>A:p.Gly333=	coding	Benign
18	3187485	G	T	G3187485T	MYOM1	NM_003803.4(MYOM1):c.924C>A:p.Val308=	coding	Benign
18	3188780	C	T	C3188780T	MYOM1	NM_003803.4(MYOM1):c.739G>A:p.Glu247Lys	coding	Benign/Likely_benign
18	3188835	G	A	G3188835A	MYOM1	NM_003803.3(MYOM1):c.684C>T:p.Ser228=	coding	Benign
18	3188859	A	G	A3188859G	MYOM1	NM_003803.4(MYOM1):c.660T>C:p.Ser220=	coding	Benign
18	3188875	G	A	G3188875A	MYOM1	NM_003803.4(MYOM1):c.644C>T:p.Thr215Met	coding	Benign
18	3188929	G	A	G3188929A	MYOM1	NM_003803.4(MYOM1):c.590C>T:p.Thr197Met	coding	Benign
18	3188978	A	G	A3188978G	MYOM1	NM_003803.4(MYOM1):c.541T>C:p.Ser181Pro	coding	Benign
18	3188980	G	A	G3188980A	MYOM1	NM_003803.4(MYOM1):c.539C>T:p.Thr180Ile	coding	Benign
18	3189058	G	A	G3189058A	MYOM1	NM_003803.4(MYOM1):c.461C>T:p.Thr154Met	coding	Benign
18	3214920	G	C	G3214920C	MYOM1	NM_003803.4(MYOM1):c.290+14C>G	noncoding	Benign
18	3214934	C	A	C3214934A	MYOM1	NM_003803.4(MYOM1):c.290G>T:p.Gly97Val	coding	Benign
18	3215032	C	A	C3215032A	MYOM1	NM_003803.4(MYOM1):c.192G>T:p.Ala64=	coding	Benign
18	3215085	T	C	T3215085C	MYOM1	NM_003803.4(MYOM1):c.139A>G:p.Ser47Gly	coding	Benign
18	3215107	G	A	G3215107A	MYOM1	NM_003803.4(MYOM1):c.117C>T:p.Tyr39=	coding	Benign/Likely_benign
18	3215133	G	T	G3215133T	MYOM1	NM_003803.4(MYOM1):c.91C>A:p.Arg31=	coding	Benign
18	3215158	C	G	C3215158G	MYOM1	NM_003803.4(MYOM1):c.66G>C:p.Val22=	coding	Benign
18	3215160	C	G	C3215160G	MYOM1	NM_003803.4(MYOM1):c.64G>C:p.Val22Leu	coding	Benign
18	3215179	G	A	G3215179A	MYOM1	NM_003803.3(MYOM1):c.45C>T:p.Leu15=	coding	Benign
18	3215232	C	T	C3215232T	MYOM1	NM_003803.4(MYOM1):c.-9G>A	noncoding	Benign
18	3253944	C	T	C3253944T	MYL12A	NM_001303049.1(MYL12A):c.255C>T:p.Pro85=	coding	Benign
18	3447727	C	T	C3447727T	TGIF1	NM_173207.4(TGIF1):c.-13C>T	noncoding	Benign
18	3447873	T	C	T3447873C	TGIF1	NM_173207.4(TGIF1):c.58+76T>C	noncoding	Benign
18	3447963	A	G	A3447963G	TGIF1	NM_173207.4(TGIF1):c.58+166A>G	noncoding	Benign
18	3449777	G	A	G3449777A	TGIF1	NM_173208.3(TGIF1):c.-462G>A	coding	Benign
18	3449779	G	C	G3449779C	TGIF1	NM_173208.3(TGIF1):c.-460G>C	coding	Benign
18	3449794	G	T	G3449794T	TGIF1	NM_173208.3(TGIF1):c.-445G>T	coding	Benign
18	3450457	C	A	C3450457A	TGIF1	NM_003244.3(TGIF1):c.-33C>A	coding	Benign
18	3451764	C	T	C3451764T	TGIF1	NM_003244.3(TGIF1):c.16+1259C>T	coding	Benign
18	3451898	G	A	G3451898A	TGIF1	NM_003244.3(TGIF1):c.16+1393G>A	coding	Benign
18	3452032	C	T	C3452032T	TGIF1	NM_003244.3(TGIF1):c.16+1527C>T	coding	Benign
18	3452156	C	G	C3452156G	TGIF1	NM_003244.3(TGIF1):c.16+1651C>G	coding	Pathogenic
18	3452350	C	T	C3452350T	TGIF1	NM_003244.3(TGIF1):c.16+1845C>T	coding	Benign
18	3456397	C	T	C3456397T	TGIF1	NM_003244.4(TGIF1):c.60C>T:p.Ser20=	coding	Benign
18	3456420	C	G	C3456420G	TGIF1	NM_003244.3(TGIF1):c.83C>G:p.Ser28Cys	coding	Pathogenic
18	3456525	C	G	C3456525G	TGIF1	NM_003244.3(TGIF1):c.188C>G:p.Pro63Arg	coding	Pathogenic
18	3456565	C	A	C3456565A	TGIF1	NM_003244.4(TGIF1):c.228C>A:p.His76Gln	coding	Benign
18	3457187	T	G	T3457187G	TGIF1	NM_003244.3(TGIF1):c.244-178T>G	noncoding	Benign
18	3457246	G	C	G3457246C	TGIF1	NM_003244.3(TGIF1):c.244-119G>C	noncoding	Benign
18	3457390	G	A	G3457390A	TGIF1	NM_003244.3(TGIF1):c.269G>A:p.Arg90His	coding	Pathogenic
18	3457441	A	T	A3457441T	TGIF1	NM_003244.3(TGIF1):c.320A>T:p.Gln107Leu	coding	Benign/Likely_benign
18	3457541	A	G	A3457541G	TGIF1	NM_003244.3(TGIF1):c.420A>G:p.Pro140=	coding	Benign/Likely_benign
18	3457606	C	T	C3457606T	TGIF1	NM_003244.3(TGIF1):c.485C>T:p.Ser162Phe	coding	Pathogenic
18	3457608	C	T	C3457608T	TGIF1	NM_003244.3(TGIF1):c.487C>T:p.Pro163Ser	coding	Benign/Likely_benign
18	3457609	C	T	C3457609T	TGIF1	NM_003244.3(TGIF1):c.488C>T:p.Pro163Leu	coding	Benign/Likely_benign
18	3457610	G	A	G3457610A	TGIF1	NM_173208.2(TGIF1):c.489G>A:p.Pro163=	coding	Benign
18	3457694	G	T	G3457694T	TGIF1	NM_173208.2(TGIF1):c.573G>T:p.Ser191=	coding	Benign/Likely_benign
18	3457697	C	T	C3457697T	TGIF1	NM_003244.3(TGIF1):c.576C>T:p.Val192=	coding	Benign/Likely_benign
18	3457702	T	G	T3457702G	TGIF1	NM_003244.3(TGIF1):c.581T>G:p.Val194Gly	coding	Benign
18	3457778	T	G	T3457778G	TGIF1	NM_003244.3(TGIF1):c.657T>G:p.Thr219=	coding	Benign/Likely_benign
18	3534201	G	A	G3534201A	DLGAP1	NM_004746.4(DLGAP1):c.2472C>T:p.Pro824=	coding	Benign
18	3567570	A	G	A3567570G	DLGAP1	NM_004746.4(DLGAP1):c.1977T>C:p.Ala659=	coding	Benign
18	3879181	C	T	C3879181T	DLGAP1	NM_004746.4(DLGAP1):c.888G>A:p.Ser296=	coding	Benign
18	3879217	G	T	G3879217T	DLGAP1	NM_004746.4(DLGAP1):c.852C>A:p.Thr284=	coding	Benign
18	5397129	G	A	G5397129A	EPB41L3	NM_012307.4(EPB41L3):c.2770C>T:p.Arg924Cys	coding	Benign
18	5397324	C	G	C5397324G	EPB41L3	NM_012307.4(EPB41L3):c.2575G>C:p.Glu859Gln	coding	Benign
18	5397405	A	C	A5397405C	EPB41L3	NM_012307.4(EPB41L3):c.2494T>G:p.Ser832Ala	coding	Benign
18	5406849	A	C	A5406849C	EPB41L3	NM_012307.4(EPB41L3):c.2277T>G:p.Leu759=	coding	Benign
18	5415846	T	C	T5415846C	EPB41L3	NM_012307.4(EPB41L3):c.2039A>G:p.Asn680Ser	coding	Benign
18	5416319	G	A	G5416319A	EPB41L3	NM_012307.4(EPB41L3):c.1566C>T:p.Pro522=	coding	Benign
18	5489077	G	T	G5489077T	EPB41L3	NM_012307.4(EPB41L3):c.107C>A:p.Pro36Gln	coding	Benign
18	6908977	G	A	G6908977A	ARHGAP28	NM_001366230.1(ARHGAP28):c.2048G>A:p.Cys683Tyr	coding	Benign
18	6943172	G	A	G6943172A	LAMA1	NM_005559.4(LAMA1):c.9067+8C>T	noncoding	Benign
18	6943176	A	G	A6943176G	LAMA1	NM_005559.4(LAMA1):c.9067+4T>C	noncoding	Benign
18	6943316	C	T	C6943316T	LAMA1	NM_005559.4(LAMA1):c.8931G>A:p.Trp2977Ter	coding	Pathogenic
18	6943344	G	A	G6943344A	LAMA1	NM_005559.4(LAMA1):c.8903C>T:p.Thr2968Ile	coding	Benign
18	6947271	T	C	T6947271C	LAMA1	NM_005559.4(LAMA1):c.8736A>G:p.Ser2912=	coding	Benign
18	6949100	C	T	C6949100T	LAMA1	NM_005559.4(LAMA1):c.8556+1G>A	noncoding	Pathogenic
18	6949203	A	G	A6949203G	LAMA1	NM_005559.4(LAMA1):c.8454T>C:p.Ser2818=	coding	Benign
18	6949254	C	T	C6949254T	LAMA1	NM_005559.4(LAMA1):c.8403G>A:p.Lys2801=	coding	Benign
18	6950926	C	T	C6950926T	LAMA1	NM_005559.4(LAMA1):c.8253G>A:p.Leu2751=	coding	Benign
18	6956657	C	T	C6956657T	LAMA1	NM_005559.4(LAMA1):c.8073G>A:p.Leu2691=	coding	Benign
18	6958478	C	G	C6958478G	LAMA1	NM_005559.4(LAMA1):c.7963G>C:p.Glu2655Gln	coding	Benign
18	6958610	T	G	T6958610G	LAMA1	NM_005559.4(LAMA1):c.7831A>C:p.Thr2611Pro	coding	Benign
18	6959383	C	T	C6959383T	LAMA1	NM_005559.4(LAMA1):c.7736G>A:p.Ser2579Asn	coding	Benign
18	6959395	G	A	G6959395A	LAMA1	NM_005559.4(LAMA1):c.7724C>T:p.Thr2575Met	coding	Benign
18	6959403	G	A	G6959403A	LAMA1	NM_005559.4(LAMA1):c.7716C>T:p.His2572=	coding	Benign
18	6959445	G	C	G6959445C	LAMA1	NM_005559.4(LAMA1):c.7674C>G:p.Val2558=	coding	Benign
18	6961681	G	T	G6961681T	LAMA1	NM_005559.4(LAMA1):c.7531C>A:p.Leu2511Met	coding	Benign
18	6961738	G	A	G6961738A	LAMA1	NM_005559.4(LAMA1):c.7474C>T:p.Leu2492=	coding	Benign
18	6961951	T	C	T6961951C	LAMA1	NM_005559.4(LAMA1):c.7446A>G:p.Leu2482=	coding	Benign
18	6965340	A	G	A6965340G	LAMA1	NM_005559.4(LAMA1):c.7143T>C:p.Arg2381=	coding	Benign
18	6965440	A	C	A6965440C	LAMA1	NM_005559.4(LAMA1):c.7051-8T>G	noncoding	Benign
18	6971873	G	A	G6971873A	LAMA1	NM_005559.4(LAMA1):c.6883C>T:p.Arg2295Cys	coding	Benign
18	6971906	G	A	G6971906A	LAMA1	NM_005559.4(LAMA1):c.6850C>T:p.Leu2284=	coding	Benign
18	6971916	T	C	T6971916C	LAMA1	NM_005559.4(LAMA1):c.6840A>G:p.Lys2280=	coding	Benign
18	6974973	C	T	C6974973T	LAMA1	NM_005559.4(LAMA1):c.6553G>A:p.Gly2185Arg	coding	Benign
18	6974991	G	A	G6974991A	LAMA1	NM_005559.4(LAMA1):c.6535C>T:p.Leu2179=	coding	Benign
18	6977724	C	G	C6977724G	LAMA1	NM_005559.4(LAMA1):c.6345+3G>C	noncoding	Pathogenic
18	6978320	C	T	C6978320T	LAMA1	NM_005559.4(LAMA1):c.6066G>A:p.Ala2022=	coding	Benign
18	6980568	G	A	G6980568A	LAMA1	NM_005559.4(LAMA1):c.5960C>T:p.Thr1987Ile	coding	Benign
18	6985230	T	C	T6985230C	LAMA1	NM_005559.4(LAMA1):c.5660+7A>G	noncoding	Benign/Likely_benign
18	6985385	G	A	G6985385A	LAMA1	NM_005559.4(LAMA1):c.5512C>T:p.Gln1838Ter	coding	Pathogenic
18	6985542	T	C	T6985542C	LAMA1	NM_005559.4(LAMA1):c.5481A>G:p.Val1827=	coding	Benign
18	6985616	G	A	G6985616A	LAMA1	NM_005559.4(LAMA1):c.5407C>T:p.Gln1803Ter	coding	Pathogenic
18	6986214	C	T	C6986214T	LAMA1	NM_005559.4(LAMA1):c.5302G>A:p.Val1768Met	coding	Benign
18	6995359	T	C	T6995359C	LAMA1	NM_005559.4(LAMA1):c.4894A>G:p.Lys1632Glu	coding	Benign
18	6995375	C	T	C6995375T	LAMA1	NM_005559.4(LAMA1):c.4878G>A:p.Thr1626=	coding	Benign
18	6997813	T	C	T6997813C	LAMA1	NM_005559.4(LAMA1):c.4735A>G:p.Asn1579Asp	coding	Benign
18	6997819	A	C	A6997819C	LAMA1	NM_005559.4(LAMA1):c.4729T>G:p.Ser1577Ala	coding	Benign
18	6999554	G	A	G6999554A	LAMA1	NM_005559.4(LAMA1):c.4554C>T:p.His1518=	coding	Benign
18	6999568	G	A	G6999568A	LAMA1	NM_005559.4(LAMA1):c.4540C>T:p.His1514Tyr	coding	Benign
18	6999919	G	A	G6999919A	LAMA1	NM_005559.4(LAMA1):c.4461C>T:p.His1487=	coding	Benign
18	7009294	C	T	C7009294T	LAMA1	NM_005559.4(LAMA1):c.3946G>A:p.Asp1316Asn	coding	Benign
18	7011372	G	A	G7011372A	LAMA1	NM_005559.4(LAMA1):c.3615C>T:p.Ala1205=	coding	Benign
18	7011428	A	G	A7011428G	LAMA1	NM_005559.4(LAMA1):c.3559T>C:p.Leu1187=	coding	Benign
18	7011465	G	A	G7011465A	LAMA1	NM_005559.4(LAMA1):c.3522C>T:p.Ser1174=	coding	Benign
18	7012100	C	A	C7012100A	LAMA1	NM_005559.4(LAMA1):c.3402G>T:p.Glu1134Asp	coding	Benign
18	7012105	G	A	G7012105A	LAMA1	NM_005559.4(LAMA1):c.3397C>T:p.Arg1133Ter	coding	Pathogenic
18	7013806	G	A	G7013806A	LAMA1	NM_005559.4(LAMA1):c.3363+9C>T	noncoding	Benign
18	7013884	C	T	C7013884T	LAMA1	NM_005559.4(LAMA1):c.3294G>A:p.Ser1098=	coding	Benign
18	7013963	C	A	C7013963A	LAMA1	NM_005559.4(LAMA1):c.3215G>T:p.Arg1072Leu	coding	Benign
18	7013998	G	A	G7013998A	LAMA1	NM_005559.4(LAMA1):c.3180C>T:p.Thr1060=	coding	Benign
18	7014007	A	G	A7014007G	LAMA1	NM_005559.4(LAMA1):c.3171T>C:p.Asp1057=	coding	Benign
18	7014022	A	G	A7014022G	LAMA1	NM_005559.4(LAMA1):c.3156T>C:p.Thr1052=	coding	Benign
18	7016491	G	A	G7016491A	LAMA1	NM_005559.4(LAMA1):c.2989C>T:p.Pro997Ser	coding	Benign/Likely_benign
18	7016580	C	T	C7016580T	LAMA1	NM_005559.4(LAMA1):c.2900G>A:p.Gly967Asp	coding	Benign
18	7016666	G	A	G7016666A	LAMA1	NM_005559.4(LAMA1):c.2814C>T:p.Gly938=	coding	Benign
18	7026032	C	A	C7026032A	LAMA1	NM_005559.4(LAMA1):c.2349G>T:p.Gly783=	coding	Benign
18	7026037	G	A	G7026037A	LAMA1	NM_005559.4(LAMA1):c.2344C>T:p.Arg782Ter	coding	Pathogenic
18	7026082	C	T	C7026082T	LAMA1	NM_005559.4(LAMA1):c.2299G>A:p.Val767Ile	coding	Benign
18	7032154	C	T	C7032154T	LAMA1	NM_005559.4(LAMA1):c.2186G>A:p.Arg729His	coding	Benign
18	7032180	C	T	C7032180T	LAMA1	NM_005559.4(LAMA1):c.2164-4G>A	noncoding	Benign
18	7033011	C	A	C7033011A	LAMA1	NM_005559.4(LAMA1):c.2136G>T:p.Pro712=	coding	Benign
18	7034509	T	G	T7034509G	LAMA1	NM_005559.4(LAMA1):c.2021A>C:p.Asn674Thr	coding	Benign
18	7036023	G	A	G7036023A	LAMA1	NM_005559.4(LAMA1):c.1803C>T:p.Asp601=	coding	Benign
18	7037599	G	A	G7037599A	LAMA1	NM_005559.4(LAMA1):c.1716C>T:p.Pro572=	coding	Benign
18	7037640	C	T	C7037640T	LAMA1	NM_005559.4(LAMA1):c.1675G>A:p.Val559Ile	coding	Benign
18	7040198	T	C	T7040198C	LAMA1	NM_005559.4(LAMA1):c.1300A>G:p.Thr434Ala	coding	Benign
18	7042223	G	A	G7042223A	LAMA1	NM_005559.4(LAMA1):c.1183C>T:p.Arg395Cys	coding	Benign
18	7049172	C	T	C7049172T	LAMA1	NM_005559.4(LAMA1):c.674G>A:p.Arg225His	coding	Benign
18	7049181	C	T	C7049181T	LAMA1	NM_005559.4(LAMA1):c.665G>A:p.Arg222Gln	coding	Benign
18	7050692	A	C	A7050692C	LAMA1	NM_005559.4(LAMA1):c.588+2T>G	noncoding	Pathogenic
18	7050727	A	C	A7050727C	LAMA1	NM_005559.4(LAMA1):c.555T>G:p.Tyr185Ter	coding	Pathogenic
18	7050777	G	A	G7050777A	LAMA1	NM_005559.4(LAMA1):c.505C>T:p.Arg169Ter	coding	Pathogenic
18	7050847	C	T	C7050847T	LAMA1	NM_005559.4(LAMA1):c.435G>A:p.Thr145=	coding	Benign
18	7050848	G	A	G7050848A	LAMA1	NM_005559.4(LAMA1):c.434C>T:p.Thr145Met	coding	Benign
18	7080025	G	A	G7080025A	LAMA1	NM_005559.4(LAMA1):c.295C>T:p.Gln99Ter	coding	Pathogenic
18	7117668	C	T	C7117668T	LAMA1	NM_005559.4(LAMA1):c.53G>A:p.Arg18Gln	coding	Benign
18	7774192	T	A	T7774192A	PTPRM	NM_001105244.1(PTPRM):c.117T>A:p.Ser39Arg	coding	Benign
18	7774210	C	T	C7774210T	PTPRM	NM_001105244.1(PTPRM):c.135C>T:p.Asp45=	coding	Benign
18	7949172	T	C	T7949172C	PTPRM	NM_001105244.1(PTPRM):c.664-9T>C	noncoding	Benign
18	7955281	C	T	C7955281T	PTPRM	NM_001105244.1(PTPRM):c.999C>T:p.Val333=	coding	Benign
18	8069888	G	A	G8069888A	PTPRM	NM_001105244.1(PTPRM):c.1335G>A:p.Thr445=	coding	Benign
18	8143723	G	A	G8143723A	PTPRM	NM_001105244.1(PTPRM):c.2244G>A:p.Ala748=	coding	Benign
18	8784372	A	T	A8784372T	MTCL1	NM_015210.4(MTCL1):c.1260A>T:p.Glu420Asp	coding	Benign
18	8784667	A	G	A8784667G	MTCL1	NM_015210.4(MTCL1):c.1555A>G:p.Met519Val	coding	Benign
18	8796366	G	A	G8796366A	MTCL1	NM_015210.4(MTCL1):c.2145G>A:p.Lys715=	coding	Benign
18	8825032	C	T	C8825032T	MTCL1	NM_015210.4(MTCL1):c.3522C>T:p.Cys1174=	coding	Benign
18	8825273	C	T	C8825273T	MTCL1	NM_015210.4(MTCL1):c.3763C>T:p.Arg1255Cys	coding	Benign
18	9102739	C	A	C9102739A	NDUFV2	NM_021074.5(NDUFV2):c.-5C>A	noncoding	Benign
18	9117564	C	T	C9117564T	NDUFV2	NM_021074.5(NDUFV2):c.55-274C>T	noncoding	Benign
18	9117869	T	C	T9117869C	NDUFV2	NM_021074.5(NDUFV2):c.86T>C:p.Val29Ala	coding	Benign
18	9117901	G	A	G9117901A	NDUFV2	NM_021074.5(NDUFV2):c.118G>A:p.Val40Met	coding	Benign
18	9119037	T	G	T9119037G	NDUFV2	NM_021074.5(NDUFV2):c.121-289T>G	noncoding	Benign
18	9119158	T	C	T9119158C	NDUFV2	NM_021074.5(NDUFV2):c.121-168T>C	noncoding	Benign
18	9119407	T	A	T9119407A	NDUFV2	NM_021074.5(NDUFV2):c.183+19T>A	noncoding	Benign
18	9119491	A	T	A9119491T	NDUFV2	NM_021074.5(NDUFV2):c.201A>T:p.Val67=	coding	Benign
18	9126819	T	A	T9126819A	NDUFV2	NM_021074.5(NDUFV2):c.580-12T>A	noncoding	Benign/Likely_benign
18	9517223	G	A	G9517223A	RALBP1	NM_006788.4(RALBP1):c.623G>A:p.Arg208Gln	coding	Benign
18	9522340	C	T	C9522340T	RALBP1	NM_006788.4(RALBP1):c.884C>T:p.Thr295Met	coding	Benign
18	10455007	T	G	T10455007G	APCDD1	NM_153000.5(APCDD1):c.26T>G:p.Leu9Arg	coding	Pathogenic
18	10471524	G	A	G10471524A	APCDD1	NM_153000.5(APCDD1):c.243-6G>A	noncoding	Benign
18	10485506	A	G	A10485506G	APCDD1	NM_153000.5(APCDD1):c.819A>G:p.Ser273=	coding	Benign
18	10487787	C	A	C10487787A	APCDD1	NM_153000.5(APCDD1):c.1294C>A:p.Arg432=	coding	Benign
18	10671571	A	G	A10671571G	PIEZO2	NM_022068.3(PIEZO2):c.8215T>C:p.Ser2739Pro	coding	Pathogenic
18	10671633	C	A	C10671633A	PIEZO2	NM_022068.3(PIEZO2):c.8153G>T:p.Arg2718Leu	coding	Pathogenic
18	10671633	C	G	C10671633G	PIEZO2	NM_022068.3(PIEZO2):c.8153G>C:p.Arg2718Pro	coding	Pathogenic
18	10671633	C	T	C10671633T	PIEZO2	NM_022068.3(PIEZO2):c.8153G>A:p.Arg2718Gln	coding	Pathogenic
18	10671729	C	T	C10671729T	PIEZO2	NM_022068.3(PIEZO2):c.8057G>A:p.Arg2686His	coding	Pathogenic
18	10671730	G	A	G10671730A	PIEZO2	NM_022068.3(PIEZO2):c.8056C>T:p.Arg2686Cys	coding	Pathogenic
18	10672695	G	A	G10672695A	PIEZO2	NM_022068.3(PIEZO2):c.8001C>T:p.Gly2667=	coding	Benign
18	10672767	C	T	C10672767T	PIEZO2	NM_022068.3(PIEZO2):c.7929G>A:p.Pro2643=	coding	Benign
18	10675227	T	C	T10675227C	PIEZO2	NM_022068.3(PIEZO2):c.7804A>G:p.Ile2602Val	coding	Benign
18	10677851	C	T	C10677851T	PIEZO2	NM_022068.3(PIEZO2):c.7638G>A:p.Ser2546=	coding	Benign
18	10680343	T	C	T10680343C	PIEZO2	NM_022068.3(PIEZO2):c.7469A>G:p.Glu2490Gly	coding	Benign
18	10681714	C	T	C10681714T	PIEZO2	NM_022068.3(PIEZO2):c.7387G>A:p.Val2463Ile	coding	Benign
18	10682224	G	A	G10682224A	PIEZO2	NM_022068.3(PIEZO2):c.7227C>T:p.Ile2409=	coding	Benign
18	10689746	G	A	G10689746A	PIEZO2	NM_022068.3(PIEZO2):c.7067C>T:p.Thr2356Met	coding	Pathogenic
18	10689805	G	T	G10689805T	PIEZO2	NM_022068.3(PIEZO2):c.7011-3C>A	noncoding	Benign
18	10691217	C	T	C10691217T	PIEZO2	NM_022068.3(PIEZO2):c.7010+8G>A	noncoding	Benign
18	10691218	G	A	G10691218A	PIEZO2	NM_022068.3(PIEZO2):c.7010+7C>T	noncoding	Benign
18	10691248	G	A	G10691248A	PIEZO2	NM_022068.3(PIEZO2):c.6987C>T:p.Tyr2329=	coding	Benign
18	10691288	G	A	G10691288A	PIEZO2	NM_022068.3(PIEZO2):c.6947C>T:p.Thr2316Met	coding	Benign
18	10691359	G	A	G10691359A	PIEZO2	NM_022068.3(PIEZO2):c.6876C>T:p.Ala2292=	coding	Benign
18	10696229	C	T	C10696229T	PIEZO2	NM_022068.3(PIEZO2):c.6696G>A:p.Pro2232=	coding	Benign
18	10696257	G	A	G10696257A	PIEZO2	NM_022068.3(PIEZO2):c.6668C>T:p.Ser2223Leu	coding	Pathogenic
18	10696263	G	A	G10696263A	PIEZO2	NM_022068.3(PIEZO2):c.6662C>T:p.Thr2221Ile	coding	Pathogenic
18	10696422	G	T	G10696422T	PIEZO2	NM_022068.3(PIEZO2):c.6606C>A:p.Ile2202=	coding	Benign
18	10696476	G	A	G10696476A	PIEZO2	NM_022068.3(PIEZO2):c.6552C>T:p.Ser2184=	coding	Benign
18	10697854	G	A	G10697854A	PIEZO2	NM_001378183.1(PIEZO2):c.6721C>T:p.Gln2241Ter	coding	Pathogenic
18	10697870	G	A	G10697870A	PIEZO2	NM_022068.3(PIEZO2):c.6366C>T:p.Ser2122=	coding	Benign
18	10698971	G	A	G10698971A	PIEZO2	NM_022068.3(PIEZO2):c.6309C>T:p.Ser2103=	coding	Benign
18	10699019	G	A	G10699019A	PIEZO2	NM_022068.3(PIEZO2):c.6261C>T:p.Phe2087=	coding	Benign
18	10699089	C	G	C10699089G	PIEZO2	NM_022068.3(PIEZO2):c.6191G>C:p.Arg2064Thr	coding	Benign/Likely_benign
18	10699131	G	T	G10699131T	PIEZO2	NM_022068.3(PIEZO2):c.6149C>A:p.Ala2050Asp	coding	Benign
18	10704450	A	G	A10704450G	PIEZO2	NM_022068.3(PIEZO2):c.5863T>C:p.Leu1955=	coding	Benign
18	10704621	C	G	C10704621G	PIEZO2	NM_022068.3(PIEZO2):c.5692G>C:p.Glu1898Gln	coding	Benign
18	10704640	G	A	G10704640A	PIEZO2	NM_022068.3(PIEZO2):c.5673C>T:p.Asp1891=	coding	Benign
18	10705516	G	T	G10705516T	PIEZO2	NM_022068.3(PIEZO2):c.5480C>A:p.Ala1827Asp	coding	Benign
18	10705620	G	A	G10705620A	PIEZO2	NM_022068.3(PIEZO2):c.5376C>T:p.Tyr1792=	coding	Benign
18	10705708	C	G	C10705708G	PIEZO2	NM_022068.3(PIEZO2):c.5288G>C:p.Gly1763Ala	coding	Benign
18	10705737	C	A	C10705737A	PIEZO2	NM_022068.3(PIEZO2):c.5259G>T:p.Thr1753=	coding	Benign
18	10705737	C	G	C10705737G	PIEZO2	NM_022068.3(PIEZO2):c.5259G>C:p.Thr1753=	coding	Benign
18	10705737	C	T	C10705737T	PIEZO2	NM_022068.3(PIEZO2):c.5259G>A:p.Thr1753=	coding	Benign
18	10705746	G	A	G10705746A	PIEZO2	NM_022068.3(PIEZO2):c.5250C>T:p.Ser1750=	coding	Benign
18	10714809	G	C	G10714809C	PIEZO2	NM_022068.3(PIEZO2):c.5204C>G:p.Thr1735Arg	coding	Benign
18	10714832	G	A	G10714832A	PIEZO2	NM_022068.3(PIEZO2):c.5181C>T:p.Pro1727=	coding	Benign
18	10714931	C	T	C10714931T	PIEZO2	NM_022068.3(PIEZO2):c.5083-1G>A	coding	Pathogenic
18	10715678	C	G	C10715678G	PIEZO2	NM_022068.3(PIEZO2):c.5054G>C:p.Arg1685Pro	coding	Pathogenic
18	10731392	C	G	C10731392G	PIEZO2	NM_022068.3(PIEZO2):c.4855+15G>C	noncoding	Benign
18	10731430	C	T	C10731430T	PIEZO2	NM_022068.3(PIEZO2):c.4832G>A:p.Arg1611Gln	coding	Benign
18	10731478	C	T	C10731478T	PIEZO2	NM_022068.3(PIEZO2):c.4784G>A:p.Arg1595Gln	coding	Benign
18	10736621	G	A	G10736621A	PIEZO2	NM_022068.3(PIEZO2):c.4723C>T:p.Arg1575Ter	coding	Pathogenic
18	10741013	G	A	G10741013A	PIEZO2	NM_022068.3(PIEZO2):c.4633+18C>T	noncoding	Benign
18	10748605	A	T	A10748605T	PIEZO2	NM_022068.3(PIEZO2):c.4215T>A:p.Leu1405=	coding	Benign
18	10752668	C	T	C10752668T	PIEZO2	NM_022068.3(PIEZO2):c.4060G>A:p.Val1354Ile	coding	Benign
18	10752862	G	A	G10752862A	PIEZO2	NM_022068.3(PIEZO2):c.3866C>T:p.Ser1289Phe	coding	Benign
18	10757985	C	G	C10757985G	PIEZO2	NM_022068.3(PIEZO2):c.3832G>C:p.Asp1278His	coding	Benign
18	10758025	G	A	G10758025A	PIEZO2	NM_022068.3(PIEZO2):c.3792C>T:p.Asn1264=	coding	Benign
18	10758099	G	C	G10758099C	PIEZO2	NM_022068.3(PIEZO2):c.3718C>G:p.Arg1240Gly	coding	Benign
18	10759505	C	T	C10759505T	PIEZO2	NM_022068.3(PIEZO2):c.3659G>A:p.Arg1220Gln	coding	Benign
18	10759842	C	A	C10759842A	PIEZO2	NM_022068.3(PIEZO2):c.3443G>T:p.Cys1148Phe	coding	Benign
18	10759847	G	A	G10759847A	PIEZO2	NM_022068.3(PIEZO2):c.3438C>T:p.His1146=	coding	Benign
18	10759873	G	A	G10759873A	PIEZO2	NM_022068.3(PIEZO2):c.3412C>T:p.Arg1138Ter	coding	Pathogenic
18	10762964	G	A	G10762964A	PIEZO2	NM_022068.3(PIEZO2):c.3006C>T:p.Leu1002=	coding	Benign
18	10762977	A	G	A10762977G	PIEZO2	NM_022068.3(PIEZO2):c.2993T>C:p.Met998Thr	coding	Pathogenic
18	10763009	T	C	T10763009C	PIEZO2	NM_022068.3(PIEZO2):c.2961A>G:p.Thr987=	coding	Benign
18	10773414	G	C	G10773414C	PIEZO2	NM_022068.3(PIEZO2):c.2708C>G:p.Ser903Ter	coding	Pathogenic
18	10773514	A	T	A10773514T	PIEZO2	NM_022068.3(PIEZO2):c.2608T>A:p.Tyr870Asn	coding	Benign
18	10773602	C	T	C10773602T	PIEZO2	NM_022068.3(PIEZO2):c.2520G>A:p.Pro840=	coding	Benign
18	10784872	T	A	T10784872A	PIEZO2	NM_022068.3(PIEZO2):c.2404A>T:p.Ile802Phe	coding	Pathogenic
18	10787049	G	A	G10787049A	PIEZO2	NM_022068.3(PIEZO2):c.2305C>T:p.Leu769=	coding	Benign
18	10787128	A	G	A10787128G	PIEZO2	NM_022068.3(PIEZO2):c.2226T>C:p.Ile742=	coding	Benign
18	10787186	T	G	T10787186G	PIEZO2	NM_022068.3(PIEZO2):c.2170-2A>C	noncoding	Pathogenic
18	10789114	T	C	T10789114C	PIEZO2	NM_022068.3(PIEZO2):c.2134A>G:p.Met712Val	coding	Pathogenic
18	10789136	G	A	G10789136A	PIEZO2	NM_022068.3(PIEZO2):c.2112C>T:p.Ile704=	coding	Benign
18	10789324	C	A	C10789324A	PIEZO2	NM_022068.3(PIEZO2):c.1924G>T:p.Glu642Ter	coding	Pathogenic
18	10794755	G	A	G10794755A	PIEZO2	NM_022068.3(PIEZO2):c.1758+17C>T	noncoding	Benign
18	10794832	A	G	A10794832G	PIEZO2	NM_022068.3(PIEZO2):c.1698T>C:p.Pro566=	coding	Benign
18	10797364	T	G	T10797364G	PIEZO2	NM_022068.3(PIEZO2):c.1527+10A>C	noncoding	Benign
18	10797517	G	A	G10797517A	PIEZO2	NM_022068.3(PIEZO2):c.1384C>T:p.Arg462Ter	coding	Pathogenic
18	10797525	A	G	A10797525G	PIEZO2	NM_022068.3(PIEZO2):c.1379-3T>C	noncoding	Benign
18	10800450	T	A	T10800450A	PIEZO2	NM_022068.3(PIEZO2):c.1265A>T:p.Asn422Ile	coding	Benign
18	10801377	A	T	A10801377T	PIEZO2	NM_022068.3(PIEZO2):c.1239+13T>A	noncoding	Benign
18	10801403	T	C	T10801403C	PIEZO2	NM_022068.3(PIEZO2):c.1226A>G:p.Tyr409Cys	coding	Benign
18	10801447	G	C	G10801447C	PIEZO2	NM_022068.3(PIEZO2):c.1201-19C>G	noncoding	Benign
18	10807111	C	T	C10807111T	PIEZO2	NM_001378183.1(PIEZO2):c.1080+1G>A	noncoding	Pathogenic
18	10807169	C	T	C10807169T	PIEZO2	NM_022068.3(PIEZO2):c.1023G>A:p.Leu341=	coding	Benign
18	10807200	G	A	G10807200A	PIEZO2	NM_022068.3(PIEZO2):c.992C>T:p.Ser331Leu	coding	Benign
18	10855553	C	T	C10855553T	PIEZO2	NM_022068.3(PIEZO2):c.717G>A:p.Pro239=	coding	Benign
18	10855569	A	G	A10855569G	PIEZO2	NM_022068.3(PIEZO2):c.704-3T>C	noncoding	Benign
18	10857084	A	G	A10857084G	PIEZO2	NM_022068.3(PIEZO2):c.620T>C:p.Val207Ala	coding	Benign
18	10979657	T	G	T10979657G	PIEZO2	NM_022068.3(PIEZO2):c.164A>C:p.His55Pro	coding	Benign
18	11689824	G	A	G11689824A	GNAL	NM_182978.4(GNAL):c.261G>A:p.Glu87=	coding	Benign
18	11689920	G	T	G11689920T	GNAL	NM_182978.4(GNAL):c.357G>T:p.Thr119=	coding	Benign
18	11752463	G	T	G11752463T	GNAL	NM_182978.4(GNAL):c.377-390G>T	coding	Benign
18	11752494	C	T	C11752494T	GNAL	NM_182978.4(GNAL):c.377-359C>T	coding	Pathogenic
18	11752499	C	T	C11752499T	GNAL	NM_182978.4(GNAL):c.377-354C>T	coding	Benign
18	11752565	C	T	C11752565T	GNAL	NM_182978.4(GNAL):c.377-288C>T	coding	Benign
18	11753821	T	C	T11753821C	GNAL	NM_182978.4(GNAL):c.505-5T>C	noncoding	Pathogenic
18	11753912	C	T	C11753912T	GNAL	NM_182978.4(GNAL):c.591C>T:p.Ser197=	coding	Benign
18	11824933	G	A	G11824933A	GNAL	NM_182978.4(GNAL):c.640G>A:p.Val214Met	coding	Pathogenic
18	11824987	G	A	G11824987A	GNAL	NM_182978.4(GNAL):c.694G>A:p.Glu232Lys	coding	Pathogenic
18	11851814	G	A	G11851814A	CHMP1B	NM_020412.5(CHMP1B):c.303G>A:p.Ala101=	coding	Benign
18	11862416	C	T	C11862416T	GNAL	NM_182978.4(GNAL):c.744C>T:p.Ser248=	coding	Benign
18	11867231	T	C	T11867231C	GNAL	NM_182978.4(GNAL):c.910+5T>C	noncoding	Benign
18	11868596	C	T	C11868596T	GNAL	NM_182978.4(GNAL):c.964C>T:p.Arg322Ter	coding	Pathogenic
18	11872280	C	A	C11872280A	GNAL	NM_182978.4(GNAL):c.1044C>A:p.Thr348=	coding	Benign
18	11872345	C	A	C11872345A	GNAL	NM_182978.4(GNAL):c.1109C>A:p.Ser370Ter	coding	Pathogenic
18	11876614	T	G	T11876614G	GNAL	NM_182978.4(GNAL):c.1163-7T>G	noncoding	Benign
18	11881003	C	T	C11881003T	GNAL	NM_182978.4(GNAL):c.1245C>T:p.Ala415=	coding	Benign
18	12009876	A	G	A12009876G	IMPA2	NM_014214.3(IMPA2):c.231-7A>G	noncoding	Benign
18	12009914	G	A	G12009914A	IMPA2	NM_014214.3(IMPA2):c.262G>A:p.Ala88Thr	coding	Benign
18	12030339	C	G	C12030339G	IMPA2	NM_014214.3(IMPA2):c.752-4C>G	noncoding	Benign
18	12264400	T	G	T12264400G	CIDEA	NM_001279.4(CIDEA):c.277T>G:p.Leu93Val	coding	Benign
18	12325970	T	C	T12325970C	TUBB6	NM_032525.3(TUBB6):c.1181T>C:p.Phe394Ser	coding	Pathogenic
18	12329456	T	G	T12329456G	AFG3L2	NM_006796.2(AFG3L2):c.*109A>C	noncoding	Benign
18	12329537	C	G	C12329537G	AFG3L2	NM_006796.2(AFG3L2):c.*28G>C	noncoding	Benign
18	12329563	C	T	C12329563T	AFG3L2	NM_006796.2(AFG3L2):c.*2G>A	noncoding	Benign
18	12329764	T	C	T12329764C	AFG3L2	NM_006796.3(AFG3L2):c.2195A>G:p.Glu732Gly	coding	Benign
18	12337323	C	T	C12337323T	AFG3L2	NM_006796.2(AFG3L2):c.2175+18G>A	noncoding	Benign
18	12337418	C	T	C12337418T	AFG3L2	NM_006796.2(AFG3L2):c.2098G>A:p.Glu700Lys	coding	Pathogenic
18	12337435	G	T	G12337435T	AFG3L2	NM_006796.2(AFG3L2):c.2081C>A:p.Ala694Glu	coding	Pathogenic
18	12337445	C	T	C12337445T	AFG3L2	NM_006796.2(AFG3L2):c.2071G>A:p.Glu691Lys	coding	Pathogenic
18	12337451	A	G	A12337451G	AFG3L2	NM_006796.3(AFG3L2):c.2065T>C:p.Tyr689His	coding	Pathogenic/Likely_pathogenic
18	12337504	C	T	C12337504T	AFG3L2	NM_006796.2(AFG3L2):c.2012G>A:p.Gly671Glu	coding	Pathogenic
18	12337505	C	T	C12337505T	AFG3L2	NM_006796.2(AFG3L2):c.2011G>A:p.Gly671Arg	coding	Pathogenic
18	12337519	A	C	A12337519C	AFG3L2	NM_006796.2(AFG3L2):c.1997T>G:p.Met666Arg	coding	Pathogenic
18	12337519	A	G	A12337519G	AFG3L2	NM_006796.2(AFG3L2):c.1997T>C:p.Met666Thr	coding	Pathogenic
18	12337549	A	G	A12337549G	AFG3L2	NM_006796.2(AFG3L2):c.1981-14T>C	noncoding	Benign
18	12337689	G	C	G12337689C	AFG3L2	NM_006796.2(AFG3L2):c.1981-154C>G	noncoding	Benign
18	12340220	G	A	G12340220A	AFG3L2	NM_006796.2(AFG3L2):c.1961C>T:p.Thr654Ile	coding	Pathogenic/Likely_pathogenic
18	12340230	T	G	T12340230G	AFG3L2	NM_006796.2(AFG3L2):c.1951A>C:p.Arg651=	coding	Benign
18	12340306	C	T	C12340306T	AFG3L2	NM_006796.2(AFG3L2):c.1875G>A:p.Met625Ile	coding	Pathogenic
18	12340315	C	T	C12340315T	AFG3L2	NM_006796.2(AFG3L2):c.1866G>A:p.Leu622=	coding	Benign/Likely_benign
18	12340323	G	T	G12340323T	AFG3L2	NM_006796.3(AFG3L2):c.1858C>A:p.Gln620Lys	coding	Pathogenic
18	12343872	A	G	A12343872G	AFG3L2	NM_006796.2(AFG3L2):c.1779+260T>C	noncoding	Benign
18	12344256	A	G	A12344256G	AFG3L2	NM_006796.2(AFG3L2):c.1664-9T>C	noncoding	Benign
18	12344286	C	T	C12344286T	AFG3L2	NM_006796.2(AFG3L2):c.1664-39G>A	noncoding	Benign
18	12348286	T	C	T12348286C	AFG3L2	NM_006796.2(AFG3L2):c.1650A>G:p.Glu550=	coding	Benign
18	12351096	G	A	G12351096A	AFG3L2	NM_006796.3(AFG3L2):c.1541C>T:p.Pro514Leu	coding	Pathogenic
18	12351158	C	T	C12351158T	AFG3L2	NM_006796.3(AFG3L2):c.1479G>A:p.Pro493=	coding	Benign/Likely_benign
18	12351330	G	A	G12351330A	AFG3L2	NM_006796.3(AFG3L2):c.1402C>T:p.Arg468Cys	coding	Pathogenic
18	12351338	C	T	C12351338T	AFG3L2	NM_006796.3(AFG3L2):c.1394G>A:p.Arg465Lys	coding	Pathogenic
18	12351343	C	T	C12351343T	AFG3L2	NM_006796.2(AFG3L2):c.1389G>A:p.Leu463=	coding	Benign
18	12353028	T	G	T12353028G	AFG3L2	NM_006796.2(AFG3L2):c.1295A>C:p.Asn432Thr	coding	Pathogenic
18	12353034	G	A	G12353034A	AFG3L2	NM_006796.3(AFG3L2):c.1289C>T:p.Thr430Ile	coding	Pathogenic
18	12353090	C	T	C12353090T	AFG3L2	NM_006796.2(AFG3L2):c.1233G>A:p.Ala411=	coding	Benign
18	12353103	T	C	T12353103C	AFG3L2	NM_006796.3(AFG3L2):c.1220A>G:p.Asp407Gly	coding	Pathogenic
18	12356693	C	T	C12356693T	AFG3L2	NM_006796.2(AFG3L2):c.1164+1G>A	noncoding	Pathogenic
18	12356728	A	G	A12356728G	AFG3L2	NM_006796.3(AFG3L2):c.1130T>C:p.Phe377Ser	coding	Pathogenic
18	12356822	G	A	G12356822A	AFG3L2	NM_006796.3(AFG3L2):c.1036C>T:p.Leu346Phe	coding	Pathogenic
18	12358662	C	T	C12358662T	AFG3L2	NM_006796.2(AFG3L2):c.1026+8G>A	noncoding	Benign
18	12358686	C	T	C12358686T	AFG3L2	NM_006796.3(AFG3L2):c.1010G>A:p.Gly337Glu	coding	Pathogenic
18	12358780	T	C	T12358780C	AFG3L2	NM_006796.3(AFG3L2):c.916A>G:p.Lys306Glu	coding	Pathogenic
18	12358903	C	T	C12358903T	AFG3L2	NM_006796.2(AFG3L2):c.793G>A:p.Ala265Thr	coding	Benign/Likely_benign
18	12359216	A	T	A12359216T	AFG3L2	NM_006796.2(AFG3L2):c.753-273T>A	noncoding	Benign
18	12359921	G	A	G12359921A	AFG3L2	NM_006796.2(AFG3L2):c.752+6C>T	noncoding	Benign
18	12367019	G	A	G12367019A	AFG3L2	NM_006796.2(AFG3L2):c.498C>T:p.Ser166=	coding	Benign
18	12367131	G	C	G12367131C	AFG3L2	NM_006796.2(AFG3L2):c.400-14C>G	noncoding	Benign
18	12370931	T	G	T12370931G	AFG3L2	NM_006796.2(AFG3L2):c.215-5A>C	noncoding	Benign
18	12376985	T	G	T12376985G	AFG3L2	NM_006796.2(AFG3L2):c.98A>C:p.Gln33Pro	coding	Benign/Likely_benign
18	12377114	G	A	G12377114A	AFG3L2	NM_006796.2(AFG3L2):c.-32C>T	noncoding	Benign
18	12377153	G	A	G12377153A	AFG3L2	NM_006796.2(AFG3L2):c.-71C>T	noncoding	Benign
18	12377178	C	G	C12377178G	AFG3L2	NM_006796.2(AFG3L2):c.-96G>C	noncoding	Benign
18	12377219	C	G	C12377219G	AFG3L2	NM_006796.2(AFG3L2):c.-137G>C	noncoding	Benign
18	12377233	G	A	G12377233A	AFG3L2	NC_000018.10:g.12377233G>A	noncoding	Benign
18	12377550	A	G	A12377550G	AFG3L2	NM_006796.2(AFG3L2):c.-468T>C	noncoding	Benign
18	12817161	C	T	C12817161T	PTPN2	NM_002828.4(PTPN2):c.700G>A:p.Val234Ile	coding	Benign
18	12817349	G	T	G12817349T	PTPN2	NM_002828.4(PTPN2):c.512C>A:p.Thr171Lys	coding	Benign
18	12971216	C	T	C12971216T	SEH1L	NM_001013437.2(SEH1L):c.585C>T:p.Ala195=	coding	Benign
18	13008498	G	C	G13008498C	CEP192	NM_032142.4(CEP192):c.333G>C:p.Leu111Phe	coding	Benign
18	13040859	A	G	A13040859G	CEP192	NM_032142.4(CEP192):c.1839A>G:p.Pro613=	coding	Benign
18	13053058	A	G	A13053058G	CEP192	NM_032142.4(CEP192):c.3157A>G:p.Thr1053Ala	coding	Benign
18	13056066	C	G	C13056066G	CEP192	NM_032142.4(CEP192):c.3476C>G:p.Pro1159Arg	coding	Benign
18	13068192	C	A	C13068192A	CEP192	NM_032142.4(CEP192):c.4713C>A:p.Gly1571=	coding	Benign
18	13087048	A	G	A13087048G	CEP192	NM_032142.4(CEP192):c.5648A>G:p.Asn1883Ser	coding	Benign
18	13734511	A	G	A13734511G	RNMT	NM_003799.3(RNMT):c.465A>G:p.Glu155=	coding	Benign
18	13746277	C	T	C13746277T	RNMT	NM_003799.3(RNMT):c.1197C>T:p.Tyr399=	coding	Benign
18	13826140	C	T	C13826140T	MC5R	NM_005913.3(MC5R):c.375C>T:p.Ser125=	coding	Benign
18	13882097	A	C	A13882097C	MC2R	NM_000529.2(MC2R):c.*2528T>G	noncoding	Benign
18	13882199	A	G	A13882199G	MC2R	NM_000529.2(MC2R):c.*2426T>C	noncoding	Benign
18	13882231	G	C	G13882231C	MC2R	NM_000529.2(MC2R):c.*2394C>G	noncoding	Benign
18	13882487	C	A	C13882487A	MC2R	NM_000529.2(MC2R):c.*2138G>T	noncoding	Benign
18	13882705	A	T	A13882705T	MC2R	NM_000529.2(MC2R):c.*1920T>A	noncoding	Benign
18	13882729	G	A	G13882729A	MC2R	NM_000529.2(MC2R):c.*1896C>T	noncoding	Benign
18	13882740	A	G	A13882740G	MC2R	NM_000529.2(MC2R):c.*1885T>C	noncoding	Benign
18	13882748	T	C	T13882748C	MC2R	NM_000529.2(MC2R):c.*1877A>G	noncoding	Benign
18	13882866	G	T	G13882866T	MC2R	NM_000529.2(MC2R):c.*1759C>A	noncoding	Benign
18	13883021	C	G	C13883021G	MC2R	NM_000529.2(MC2R):c.*1604G>C	noncoding	Benign
18	13883295	T	C	T13883295C	MC2R	NM_000529.2(MC2R):c.*1330A>G	noncoding	Benign
18	13883481	C	T	C13883481T	MC2R	NM_000529.2(MC2R):c.*1144G>A	noncoding	Benign
18	13883526	T	A	T13883526A	MC2R	NM_000529.2(MC2R):c.*1099A>T	noncoding	Benign
18	13883564	G	T	G13883564T	MC2R	NM_000529.2(MC2R):c.*1061C>A	noncoding	Benign
18	13883745	G	A	G13883745A	MC2R	NM_000529.2(MC2R):c.*880C>T	noncoding	Benign
18	13883940	C	T	C13883940T	MC2R	NM_000529.2(MC2R):c.*685G>A	noncoding	Benign
18	13884010	G	A	G13884010A	MC2R	NM_000529.2(MC2R):c.*615C>T	noncoding	Benign
18	13884090	C	G	C13884090G	MC2R	NM_000529.2(MC2R):c.*535G>C	noncoding	Benign
18	13884134	T	C	T13884134C	MC2R	NM_000529.2(MC2R):c.*491A>G	noncoding	Benign
18	13884514	C	T	C13884514T	MC2R	NM_000529.2(MC2R):c.*111G>A	noncoding	Benign
18	13884567	C	T	C13884567T	MC2R	NM_000529.2(MC2R):c.*58G>A	noncoding	Benign
18	13884686	A	C	A13884686C	MC2R	NM_000529.2(MC2R):c.833T>G:p.Phe278Cys	coding	Benign
18	13884758	T	C	T13884758C	MC2R	NM_000529.2(MC2R):c.761A>G:p.Tyr254Cys	coding	Pathogenic
18	13884767	C	A	C13884767A	MC2R	NM_000529.2(MC2R):c.752G>T:p.Cys251Phe	coding	Pathogenic
18	13884845	A	C	A13884845C	MC2R	NM_000529.2(MC2R):c.674T>G:p.Leu225Arg	coding	Pathogenic
18	13884918	G	A	G13884918A	MC2R	NM_000529.2(MC2R):c.601C>T:p.Arg201Ter	coding	Pathogenic
18	13884946	G	T	G13884946T	MC2R	NM_000529.2(MC2R):c.573C>A:p.Cys191Ter	coding	Pathogenic
18	13885086	G	A	G13885086A	MC2R	NM_000529.2(MC2R):c.433C>T:p.Arg145Cys	coding	Pathogenic
18	13885095	C	A	C13885095A	MC2R	NM_000529.2(MC2R):c.424G>T:p.Val142Leu	coding	Pathogenic
18	13885109	C	G	C13885109G	MC2R	NM_000529.2(MC2R):c.410G>C:p.Arg137Pro	coding	Pathogenic
18	13885110	G	A	G13885110A	MC2R	NM_000529.2(MC2R):c.409C>T:p.Arg137Trp	coding	Pathogenic
18	13885137	G	A	G13885137A	MC2R	NM_000529.2(MC2R):c.382C>T:p.Arg128Cys	coding	Pathogenic
18	13885143	C	A	C13885143A	MC2R	NM_000529.2(MC2R):c.376G>T:p.Ala126Ser	coding	Pathogenic
18	13885159	G	C	G13885159C	MC2R	NM_000529.2(MC2R):c.360C>G:p.Ser120Arg	coding	Pathogenic
18	13885200	C	T	C13885200T	MC2R	NM_000529.2(MC2R):c.319G>A:p.Asp107Asn	coding	Pathogenic
18	13885298	C	A	C13885298A	MC2R	NM_000529.2(MC2R):c.221G>T:p.Ser74Ile	coding	Pathogenic
18	13885562	C	G	C13885562G	MC2R	NM_000529.2(MC2R):c.-44G>C	noncoding	Benign
18	13885608	A	G	A13885608G	MC2R	NM_000529.2(MC2R):c.-90T>C	noncoding	Benign
18	13885612	C	T	C13885612T	MC2R	NM_000529.2(MC2R):c.-94G>A	noncoding	Benign
18	20970392	T	G	T20970392G	ROCK1	NM_005406.3(ROCK1):c.2776A>C:p.Arg926=	coding	Benign
18	20970516	G	A	G20970516A	ROCK1	NM_005406.3(ROCK1):c.2655-3C>T	noncoding	Benign
18	20984522	G	C	G20984522C	ROCK1	NM_005406.3(ROCK1):c.2318C>G:p.Thr773Ser	coding	Benign
18	21006451	A	C	A21006451C	ROCK1	NM_005406.3(ROCK1):c.1785T>G:p.Ser595=	coding	Benign
18	21039464	A	G	A21039464G	ROCK1	NM_005406.3(ROCK1):c.1051+8T>C	noncoding	Benign
18	21440301	C	T	C21440301T	GREB1L	NM_001142966.2(GREB1L):c.982C>T:p.Arg328Ter	coding	Pathogenic
18	21440302	G	A	G21440302A	GREB1L	NM_001142966.2(GREB1L):c.983G>A:p.Arg328Gln	coding	Pathogenic
18	21451082	G	T	G21451082T	GREB1L	NM_001142966.2(GREB1L):c.1780G>T:p.Glu594Ter	coding	Pathogenic
18	21451161	T	C	T21451161C	GREB1L	NM_001142966.2(GREB1L):c.1849+10T>C	noncoding	Benign
18	21473099	C	T	C21473099T	GREB1L	NM_001142966.2(GREB1L):c.2251C>T:p.Arg751Cys	coding	Pathogenic
18	21490212	C	T	C21490212T	GREB1L	NM_001142966.2(GREB1L):c.2891C>T:p.Ser964Leu	coding	Benign
18	21496602	C	T	C21496602T	GREB1L	NM_001142966.2(GREB1L):c.3295C>T:p.Gln1099Ter	coding	Pathogenic
18	21499865	C	G	C21499865G	GREB1L	NM_001142966.2(GREB1L):c.3528C>G:p.Ala1176=	coding	Benign
18	21505949	G	T	G21505949T	GREB1L	NM_001142966.2(GREB1L):c.4368G>T:p.Gln1456His	coding	Pathogenic
18	21508117	G	C	G21508117C	GREB1L	NM_001142966.2(GREB1L):c.4369-1G>C	noncoding	Pathogenic
18	21508463	A	G	A21508463G	GREB1L	NM_001142966.2(GREB1L):c.4607A>G:p.His1536Arg	coding	Pathogenic
18	21508536	C	A	C21508536A	GREB1L	NM_001142966.2(GREB1L):c.4680C>A:p.Tyr1560Ter	coding	Pathogenic
18	21508556	T	C	T21508556C	GREB1L	NM_001142966.2(GREB1L):c.4700T>C:p.Leu1567Pro	coding	Pathogenic
18	21518140	T	G	T21518140G	GREB1L	NM_001142966.2(GREB1L):c.5378T>G:p.Leu1793Arg	coding	Pathogenic
18	21659193	G	A	G21659193A	ABHD3	NM_138340.5(ABHD3):c.819C>T:p.Thr273=	coding	Benign
18	21741159	G	A	G21741159A	MIB1	NM_020774.3(MIB1):c.-425G>A	noncoding	Benign
18	21741286	G	A	G21741286A	MIB1	NM_020774.3(MIB1):c.-298G>A	noncoding	Benign
18	21741538	G	A	G21741538A	MIB1	NM_020774.3(MIB1):c.-46G>A	noncoding	Benign
18	21765569	G	C	G21765569C	MIB1	NM_020774.3(MIB1):c.230-203G>C	noncoding	Benign
18	21765743	A	C	A21765743C	MIB1	NM_020774.3(MIB1):c.230-29A>C	noncoding	Benign
18	21765971	C	T	C21765971T	MIB1	NM_020774.3(MIB1):c.401+28C>T	noncoding	Benign
18	21778240	T	G	T21778240G	MIB1	NM_020774.3(MIB1):c.703+71T>G	noncoding	Benign
18	21779620	A	T	A21779620T	MIB1	NM_020774.3(MIB1):c.843A>T:p.Thr281=	coding	Benign/Likely_benign
18	21791729	G	A	G21791729A	MIB1	NM_020774.3(MIB1):c.1092+172G>A	noncoding	Benign
18	21803700	T	A	T21803700A	MIB1	NM_020774.3(MIB1):c.1372-207T>A	noncoding	Benign
18	21804032	A	G	A21804032G	MIB1	NM_020774.3(MIB1):c.1479+18A>G	noncoding	Benign
18	21815883	A	G	A21815883G	MIB1	NM_020774.3(MIB1):c.1677+70A>G	noncoding	Benign
18	21815903	A	T	A21815903T	MIB1	NM_020774.3(MIB1):c.1677+90A>T	noncoding	Benign
18	21815995	G	A	G21815995A	MIB1	NM_020774.3(MIB1):c.1677+182G>A	noncoding	Benign
18	21819357	G	A	G21819357A	MIB1	NM_020774.3(MIB1):c.1678-138G>A	noncoding	Benign
18	21819777	T	A	T21819777A	MIB1	NM_020774.3(MIB1):c.1829+131T>A	noncoding	Benign
18	21838347	T	C	T21838347C	MIB1	NM_020774.3(MIB1):c.1830-18T>C	noncoding	Benign
18	21838514	A	G	A21838514G	MIB1	NM_020774.3(MIB1):c.1962+17A>G	noncoding	Benign
18	21843125	G	A	G21843125A	MIB1	NM_020774.3(MIB1):c.1963-6G>A	noncoding	Benign
18	21847135	A	G	A21847135G	MIB1	NM_020774.3(MIB1):c.2393+10A>G	noncoding	Benign
18	21857140	C	T	C21857140T	MIB1	NM_020774.3(MIB1):c.2676C>T:p.Asn892=	coding	Benign
18	21857542	T	C	T21857542C	MIB1	NM_020774.3(MIB1):c.2779+299T>C	noncoding	Benign
18	21858593	G	T	G21858593T	MIB1	NM_020774.3(MIB1):c.2827G>T:p.Val943Phe	coding	Pathogenic/Likely_pathogenic
18	21858981	C	T	C21858981T	MIB1	NM_020774.3(MIB1):c.2880+335C>T	noncoding	Benign
18	22148844	T	A	T22148844A	-	NC_000018.10:g.22148844T>A	noncoding	Benign
18	22148845	C	A	C22148845A	-	NC_000018.10:g.22148845C>A	noncoding	Benign
18	22171167	G	A	G22171167A	GATA6	NM_005257.6(GATA6):c.23G>A:p.Trp8Ter	coding	Pathogenic
18	22171187	G	C	G22171187C	GATA6	NM_005257.5(GATA6):c.43G>C:p.Gly15Arg	coding	Benign
18	22171366	G	A	G22171366A	GATA6	NM_005257.5(GATA6):c.222G>A:p.Pro74=	coding	Benign
18	22171677	C	T	C22171677T	GATA6	NM_005257.5(GATA6):c.533C>T:p.Ala178Val	coding	Benign/Likely_benign
18	22171695	G	A	G22171695A	GATA6	NM_005257.5(GATA6):c.551G>A:p.Ser184Asn	coding	Benign/Likely_benign
18	22171856	G	T	G22171856T	GATA6	NM_005257.5(GATA6):c.712G>T:p.Gly238Ter	coding	Pathogenic
18	22171894	C	A	C22171894A	GATA6	NM_005257.5(GATA6):c.750C>A:p.Gly250=	coding	Benign
18	22171982	G	T	G22171982T	GATA6	NM_005257.6(GATA6):c.838G>T:p.Gly280Ter	coding	Pathogenic
18	22171995	C	G	C22171995G	GATA6	NM_005257.5(GATA6):c.851C>G:p.Ala284Gly	coding	Benign/Likely_benign
18	22172231	C	T	C22172231T	GATA6	NM_005257.5(GATA6):c.1087C>T:p.Gln363Ter	coding	Pathogenic
18	22172288	C	G	C22172288G	GATA6	NM_005257.5(GATA6):c.1135+9C>G	noncoding	Benign
18	22181500	A	G	A22181500G	GATA6	NM_005257.5(GATA6):c.1350A>G:p.Thr450=	coding	Benign
18	22181504	A	G	A22181504G	GATA6	NM_005257.5(GATA6):c.1354A>G:p.Thr452Ala	coding	Pathogenic
18	22181516	C	T	C22181516T	GATA6	NM_005257.5(GATA6):c.1366C>T:p.Arg456Cys	coding	Pathogenic
18	22181517	G	A	G22181517A	GATA6	NM_005257.5(GATA6):c.1367G>A:p.Arg456His	coding	Pathogenic
18	22181524	C	T	C22181524T	GATA6	NM_005257.5(GATA6):c.1374C>T:p.Asn458=	coding	Benign/Likely_benign
18	22181546	A	C	A22181546C	GATA6	NM_005257.5(GATA6):c.1396A>C:p.Asn466His	coding	Pathogenic
18	22181546	A	G	A22181546G	GATA6	NM_005257.5(GATA6):c.1396A>G:p.Asn466Asp	coding	Pathogenic
18	22181549	G	A	G22181549A	GATA6	NM_005257.5(GATA6):c.1399G>A:p.Ala467Thr	coding	Pathogenic
18	22182805	C	T	C22182805T	GATA6	NM_005257.5(GATA6):c.1477C>T:p.Arg493Ter	coding	Pathogenic
18	22182995	T	C	T22182995C	GATA6	NM_005257.5(GATA6):c.1572T>C:p.Asp524=	coding	Benign
18	22183025	A	G	A22183025G	GATA6	NM_005257.5(GATA6):c.1602A>G:p.Thr534=	coding	Benign
18	22183028	A	G	A22183028G	GATA6	NM_005257.5(GATA6):c.1605A>G:p.Gln535=	coding	Benign
18	22183049	T	C	T22183049C	GATA6	NM_005257.5(GATA6):c.1620+6T>C	noncoding	Benign
18	22200688	G	A	G22200688A	GATA6	NM_005257.5(GATA6):c.1653G>A:p.Glu551=	coding	Benign
18	22200760	C	T	C22200760T	GATA6	NM_005257.5(GATA6):c.1725C>T:p.Ala575=	coding	Benign
18	22936411	C	A	C22936411A	RBBP8	NM_002894.3(RBBP8):c.-98-343C>A	noncoding	Benign
18	22936418	C	T	C22936418T	RBBP8	NM_002894.3(RBBP8):c.-98-336C>T	noncoding	Benign
18	22936966	A	G	A22936966G	RBBP8	NM_002894.3(RBBP8):c.109+6A>G	noncoding	Benign/Likely_benign
18	22968855	C	T	C22968855T	RBBP8	NM_002894.3(RBBP8):c.298C>T:p.Arg100Trp	coding	Pathogenic
18	22975256	T	C	T22975256C	RBBP8	NM_002894.3(RBBP8):c.428+37T>C	noncoding	Benign
18	22982394	G	T	G22982394T	RBBP8	NM_002894.3(RBBP8):c.604+1G>T	coding	Pathogenic
18	22982555	G	A	G22982555A	RBBP8	NM_002894.3(RBBP8):c.604+162G>A	noncoding	Benign
18	22988974	G	A	G22988974A	RBBP8	NM_002894.3(RBBP8):c.710-247G>A	noncoding	Benign
18	22989247	C	G	C22989247G	RBBP8	NM_002894.3(RBBP8):c.736C>G:p.Pro246Ala	coding	Benign/Likely_benign
18	22990972	G	A	G22990972A	RBBP8	NM_002894.3(RBBP8):c.843G>A:p.Glu281=	coding	Benign/Likely_benign
18	22992836	A	G	A22992836G	RBBP8	NM_002894.3(RBBP8):c.1009A>G:p.Lys337Glu	coding	Pathogenic
18	22992898	A	C	A22992898C	RBBP8	NM_002894.3(RBBP8):c.1071A>C:p.Lys357Asn	coding	Benign/Likely_benign
18	22993117	T	A	T22993117A	RBBP8	NM_002894.3(RBBP8):c.1290T>A:p.Thr430=	coding	Benign
18	22993471	T	C	T22993471C	RBBP8	NM_002894.3(RBBP8):c.1644T>C:p.Asp548=	coding	Benign
18	22993593	G	A	G22993593A	RBBP8	NM_002894.3(RBBP8):c.1766G>A:p.Arg589His	coding	Benign
18	22993618	G	A	G22993618A	RBBP8	NM_002894.3(RBBP8):c.1791G>A:p.Glu597=	coding	Benign
18	22993859	A	G	A22993859G	RBBP8	NM_002894.3(RBBP8):c.1939+12A>G	noncoding	Benign
18	22996218	G	T	G22996218T	RBBP8	NM_002894.3(RBBP8):c.1940-156G>T	noncoding	Benign
18	22997367	G	A	G22997367A	RBBP8	NM_002894.3(RBBP8):c.2029-253G>A	noncoding	Benign
18	22997493	T	A	T22997493A	RBBP8	NM_002894.3(RBBP8):c.2029-127T>A	noncoding	Benign
18	23001782	T	G	T23001782G	RBBP8	NM_002894.3(RBBP8):c.2287+53T>G	noncoding	Pathogenic
18	23006282	C	T	C23006282T	RBBP8	NM_002894.3(RBBP8):c.2288-81C>T	noncoding	Benign
18	23481163	T	C	T23481163C	RIOK3	NM_003831.5(RIOK3):c.1453-9T>C	noncoding	Benign
18	23515960	G	A	G23515960A	RMC1	NM_013326.5(RMC1):c.513G>A:p.Thr171=	coding	Benign
18	23526674	A	C	A23526674C	RMC1	NM_013326.5(RMC1):c.1098A>C:p.Ile366=	coding	Benign
18	23527835	C	G	C23527835G	RMC1	NM_013326.5(RMC1):c.1230C>G:p.Ala410=	coding	Benign
18	23530033	C	T	C23530033T	RMC1	NM_013326.5(RMC1):c.1500C>T:p.Tyr500=	coding	Benign
18	23532038	A	G	A23532038G	NPC1	NM_000271.5(NPC1):c.*164T>C	noncoding	Benign
18	23532242	C	T	C23532242T	NPC1	NM_000271.5(NPC1):c.3797G>A:p.Arg1266Gln	coding	Benign
18	23533321	T	C	T23533321C	NPC1	NM_000271.5(NPC1):c.3754+34A>G	noncoding	Benign
18	23533470	C	G	C23533470G	NPC1	NM_000271.5(NPC1):c.3639G>C:p.Leu1213Phe	coding	Pathogenic
18	23533495	G	C	G23533495C	NPC1	NM_000271.5(NPC1):c.3614C>G:p.Thr1205Arg	coding	Pathogenic/Likely_pathogenic
18	23533495	G	T	G23533495T	NPC1	NM_000271.5(NPC1):c.3614C>A:p.Thr1205Lys	coding	Pathogenic/Likely_pathogenic
18	23533511	T	C	T23533511C	NPC1	NM_000271.5(NPC1):c.3598A>G:p.Ser1200Gly	coding	Benign/Likely_benign
18	23534445	C	T	C23534445T	NPC1	NM_000271.5(NPC1):c.3591+1G>A	noncoding	Pathogenic/Likely_pathogenic
18	23534475	C	A	C23534475A	NPC1	NM_000271.5(NPC1):c.3562G>T:p.Glu1188Ter	coding	Pathogenic
18	23534476	C	T	C23534476T	NPC1	NM_000271.5(NPC1):c.3561G>A:p.Ala1187=	coding	Benign/Likely_benign
18	23534480	C	T	C23534480T	NPC1	NM_000271.5(NPC1):c.3557G>A:p.Arg1186His	coding	Pathogenic/Likely_pathogenic
18	23534502	T	C	T23534502C	NPC1	NM_000271.5(NPC1):c.3535A>G:p.Met1179Val	coding	Benign
18	23534534	C	T	C23534534T	NPC1	NM_000271.5(NPC1):c.3503G>A:p.Cys1168Tyr	coding	Pathogenic/Likely_pathogenic
18	23535450	A	G	A23535450G	NPC1	NM_000271.5(NPC1):c.3477+19T>C	noncoding	Benign
18	23535465	T	C	T23535465C	NPC1	NM_000271.5(NPC1):c.3477+4A>G	noncoding	Benign/Likely_benign
18	23535467	A	G	A23535467G	NPC1	NM_000271.5(NPC1):c.3477+2T>C	noncoding	Pathogenic
18	23535468	C	T	C23535468T	NPC1	NM_000271.5(NPC1):c.3477+1G>A	noncoding	Pathogenic
18	23535479	T	C	T23535479C	NPC1	NM_000271.5(NPC1):c.3467A>G:p.Asn1156Ser	coding	Pathogenic/Likely_pathogenic
18	23535496	G	A	G23535496A	NPC1	NM_000271.5(NPC1):c.3450C>T:p.Asn1150=	coding	Benign/Likely_benign
18	23535505	G	A	G23535505A	NPC1	NM_000271.5(NPC1):c.3441C>T:p.Ile1147=	coding	Benign/Likely_benign
18	23535702	T	C	T23535702C	NPC1	NM_000271.5(NPC1):c.3246-2A>G	noncoding	Pathogenic
18	23535720	C	T	C23535720T	NPC1	NM_000271.5(NPC1):c.3246-20G>A	noncoding	Benign
18	23535746	G	A	G23535746A	NPC1	NM_000271.5(NPC1):c.3246-46C>T	noncoding	Benign
18	23536689	G	A	G23536689A	NPC1	NM_000271.5(NPC1):c.3229C>T:p.Arg1077Ter	coding	Pathogenic
18	23536736	A	G	A23536736G	NPC1	NM_000271.5(NPC1):c.3182T>C:p.Ile1061Thr	coding	Pathogenic
18	23536743	G	A	G23536743A	NPC1	NM_000271.5(NPC1):c.3175C>T:p.Arg1059Ter	coding	Pathogenic/Likely_pathogenic
18	23536758	C	T	C23536758T	NPC1	NM_000271.5(NPC1):c.3160G>A:p.Ala1054Thr	coding	Pathogenic
18	23536791	T	C	T23536791C	NPC1	NM_000271.5(NPC1):c.3127A>G:p.Thr1043Ala	coding	Pathogenic
18	23536814	G	A	G23536814A	NPC1	NM_000271.5(NPC1):c.3104C>T:p.Ala1035Val	coding	Pathogenic/Likely_pathogenic
18	23536818	C	T	C23536818T	NPC1	NM_000271.5(NPC1):c.3100G>A:p.Gly1034Arg	coding	Pathogenic
18	23538563	G	A	G23538563A	NPC1	NM_000271.5(NPC1):c.3020C>T:p.Pro1007Leu	coding	Pathogenic
18	23538609	C	G	C23538609G	NPC1	NM_000271.5(NPC1):c.2974G>C:p.Gly992Arg	coding	Pathogenic/Likely_pathogenic
18	23538609	C	T	C23538609T	NPC1	NM_000271.5(NPC1):c.2974G>A:p.Gly992Arg	coding	Pathogenic/Likely_pathogenic
18	23538651	G	A	G23538651A	NPC1	NM_000271.5(NPC1):c.2932C>T:p.Arg978Cys	coding	Pathogenic/Likely_pathogenic
18	23538674	G	C	G23538674C	NPC1	NM_000271.5(NPC1):c.2912-3C>G	noncoding	Pathogenic
18	23539327	A	G	A23539327G	NPC1	NM_000271.5(NPC1):c.2911+28T>C	noncoding	Benign
18	23539373	G	A	G23539373A	NPC1	NM_000271.5(NPC1):c.2893C>T:p.Gln965Ter	coding	Pathogenic/Likely_pathogenic
18	23539393	C	T	C23539393T	NPC1	NM_000271.5(NPC1):c.2873G>A:p.Arg958Gln	coding	Pathogenic
18	23539394	G	A	G23539394A	NPC1	NM_000271.5(NPC1):c.2872C>T:p.Arg958Ter	coding	Pathogenic
18	23539405	G	A	G23539405A	NPC1	NM_000271.5(NPC1):c.2861C>T:p.Ser954Leu	coding	Pathogenic
18	23539418	C	T	C23539418T	NPC1	NM_000271.5(NPC1):c.2848G>A:p.Val950Met	coding	Pathogenic/Likely_pathogenic
18	23539424	C	T	C23539424T	NPC1	NM_000271.5(NPC1):c.2842G>A:p.Asp948Asn	coding	Pathogenic/Likely_pathogenic
18	23539436	C	T	C23539436T	NPC1	NM_000271.5(NPC1):c.2830G>A:p.Asp944Asn	coding	Pathogenic
18	23539447	G	A	G23539447A	NPC1	NM_000271.5(NPC1):c.2819C>T:p.Ser940Leu	coding	Pathogenic/Likely_pathogenic
18	23539465	C	T	C23539465T	NPC1	NM_000271.5(NPC1):c.2801G>A:p.Arg934Gln	coding	Pathogenic/Likely_pathogenic
18	23539466	G	A	G23539466A	NPC1	NM_000271.5(NPC1):c.2800C>T:p.Arg934Ter	coding	Pathogenic
18	23539792	A	G	A23539792G	NPC1	NM_000271.5(NPC1):c.2795+19T>C	noncoding	Benign
18	23539813	G	A	G23539813A	NPC1	NM_000271.5(NPC1):c.2793C>T:p.Asn931=	coding	Benign
18	23539823	T	G	T23539823G	NPC1	NM_000271.5(NPC1):c.2783A>C:p.Gln928Pro	coding	Pathogenic
18	23539829	G	A	G23539829A	NPC1	NM_000271.5(NPC1):c.2777C>T:p.Ala926Val	coding	Pathogenic
18	23539845	G	A	G23539845A	NPC1	NM_000271.5(NPC1):c.2761C>T:p.Gln921Ter	coding	Pathogenic/Likely_pathogenic
18	23539875	C	T	C23539875T	NPC1	NM_000271.5(NPC1):c.2731G>A:p.Gly911Ser	coding	Benign
18	23539878	C	T	C23539878T	NPC1	NM_000271.5(NPC1):c.2728G>A:p.Gly910Ser	coding	Pathogenic/Likely_pathogenic
18	23539893	G	A	G23539893A	NPC1	NM_000271.5(NPC1):c.2713C>T:p.Gln905Ter	coding	Pathogenic/Likely_pathogenic
18	23539941	C	T	C23539941T	NPC1	NM_000271.5(NPC1):c.2665G>A:p.Val889Met	coding	Pathogenic
18	23539945	C	T	C23539945T	NPC1	NM_000271.5(NPC1):c.2661G>A:p.Pro887=	coding	Benign
18	23539946	G	A	G23539946A	NPC1	NM_000271.5(NPC1):c.2660C>T:p.Pro887Leu	coding	Pathogenic
18	23539985	T	A	T23539985A	NPC1	NM_000271.5(NPC1):c.2621A>T:p.Asp874Val	coding	Pathogenic/Likely_pathogenic
18	23539998	A	T	A23539998T	NPC1	NM_000271.5(NPC1):c.2608T>A:p.Ser870Thr	coding	Pathogenic
18	23540447	C	T	C23540447T	NPC1	NM_000271.5(NPC1):c.2604+1G>A	noncoding	Pathogenic/Likely_pathogenic
18	23540458	G	A	G23540458A	NPC1	NM_000271.5(NPC1):c.2594C>T:p.Ser865Leu	coding	Pathogenic
18	23540480	T	C	T23540480C	NPC1	NM_000271.5(NPC1):c.2572A>G:p.Ile858Val	coding	Benign
18	23541062	G	A	G23541062A	NPC1	NM_000271.5(NPC1):c.2514+6C>T	noncoding	Benign
18	23541355	T	G	T23541355G	NPC1	NM_000271.5(NPC1):c.2324A>C:p.Gln775Pro	coding	Pathogenic
18	23543487	G	T	G23543487T	NPC1	NM_000271.5(NPC1):c.2213C>A:p.Ser738Ter	coding	Pathogenic
18	23543499	C	A	C23543499A	NPC1	NM_000271.5(NPC1):c.2201G>T:p.Ser734Ile	coding	Pathogenic/Likely_pathogenic
18	23543523	C	G	C23543523G	NPC1	NM_000271.5(NPC1):c.2177G>C:p.Arg726Thr	coding	Pathogenic
18	23544343	C	T	C23544343T	NPC1	NM_000271.5(NPC1):c.2130+1G>A	noncoding	Pathogenic
18	23544346	G	A	G23544346A	NPC1	NM_000271.5(NPC1):c.2128C>T:p.Gln710Ter	coding	Pathogenic
18	23544371	G	A	G23544371A	NPC1	NM_000271.5(NPC1):c.2103C>T:p.Asn701=	coding	Benign
18	23544401	C	T	C23544401T	NPC1	NM_000271.5(NPC1):c.2073G>A:p.Pro691=	coding	Benign/Likely_benign
18	23544420	A	G	A23544420G	NPC1	NM_000271.5(NPC1):c.2054T>C:p.Ile685Thr	coding	Pathogenic
18	23544484	C	T	C23544484T	NPC1	NM_000271.5(NPC1):c.1990G>A:p.Val664Met	coding	Pathogenic/Likely_pathogenic
18	23544943	A	C	A23544943C	NPC1	NM_000271.5(NPC1):c.1947+17T>G	noncoding	Benign
18	23544946	C	A	C23544946A	NPC1	NM_000271.5(NPC1):c.1947+14G>T	noncoding	Benign
18	23544950	C	G	C23544950G	NPC1	NM_000271.5(NPC1):c.1947+10G>C	noncoding	Benign/Likely_benign
18	23544950	C	T	C23544950T	NPC1	NM_000271.5(NPC1):c.1947+10G>A	noncoding	Benign/Likely_benign
18	23544981	C	G	C23544981G	NPC1	NM_000271.5(NPC1):c.1926G>C:p.Met642Ile	coding	Benign
18	23545075	T	C	T23545075C	NPC1	NM_000271.5(NPC1):c.1832A>G:p.Asp611Gly	coding	Pathogenic
18	23545088	G	A	G23545088A	NPC1	NM_000271.5(NPC1):c.1819C>T:p.Arg607Ter	coding	Pathogenic
18	23548068	G	A	G23548068A	NPC1	NM_000271.5(NPC1):c.1695C>T:p.Phe565=	coding	Benign/Likely_benign
18	23551653	G	A	G23551653A	NPC1	NM_000271.5(NPC1):c.1628C>T:p.Pro543Leu	coding	Pathogenic/Likely_pathogenic
18	23552736	C	T	C23552736T	NPC1	NM_000271.5(NPC1):c.1554-1009G>A	noncoding	Pathogenic/Likely_pathogenic
18	23552748	T	A	T23552748A	NPC1	NM_000271.5(NPC1):c.1554-1021A>T	noncoding	Benign
18	23554758	C	T	C23554758T	NPC1	NM_000271.5(NPC1):c.1553G>A:p.Arg518Gln	coding	Pathogenic/Likely_pathogenic
18	23554779	G	A	G23554779A	NPC1	NM_000271.5(NPC1):c.1532C>T:p.Thr511Met	coding	Benign/Likely_benign
18	23554808	G	A	G23554808A	NPC1	NM_000271.5(NPC1):c.1503C>T:p.Asp501=	coding	Benign/Likely_benign
18	23554809	T	A	T23554809A	NPC1	NM_000271.5(NPC1):c.1502A>T:p.Asp501Val	coding	Pathogenic
18	23554890	G	A	G23554890A	NPC1	NM_000271.5(NPC1):c.1421C>T:p.Pro474Leu	coding	Pathogenic
18	23556269	G	A	G23556269A	NPC1	NM_000271.5(NPC1):c.1300C>T:p.Pro434Ser	coding	Benign/Likely_benign
18	23556271	G	A	G23556271A	NPC1	NM_000271.5(NPC1):c.1298C>T:p.Pro433Leu	coding	Pathogenic
18	23556308	G	A	G23556308A	NPC1	NM_000271.5(NPC1):c.1261C>T:p.Gln421Ter	coding	Pathogenic
18	23556337	C	T	C23556337T	NPC1	NM_000271.5(NPC1):c.1232G>A:p.Arg411Gln	coding	Benign/Likely_benign
18	23556350	G	A	G23556350A	NPC1	NM_000271.5(NPC1):c.1219C>T:p.Gln407Ter	coding	Pathogenic
18	23556358	C	T	C23556358T	NPC1	NM_000271.5(NPC1):c.1211G>A:p.Arg404Gln	coding	Pathogenic
18	23556398	C	A	C23556398A	NPC1	NM_000271.5(NPC1):c.1171G>T:p.Glu391Ter	coding	Pathogenic
18	23556427	C	T	C23556427T	NPC1	NM_000271.5(NPC1):c.1142G>A:p.Trp381Ter	coding	Pathogenic/Likely_pathogenic
18	23556436	A	G	A23556436G	NPC1	NM_000271.5(NPC1):c.1133T>C:p.Val378Ala	coding	Pathogenic
18	23556472	G	C	G23556472C	NPC1	NM_000271.5(NPC1):c.1097C>G:p.Ser366Ter	coding	Pathogenic
18	23556498	C	T	C23556498T	NPC1	NM_000271.5(NPC1):c.1071G>A:p.Ser357=	coding	Benign
18	23556603	G	A	G23556603A	NPC1	NM_000271.5(NPC1):c.966C>T:p.Ser322=	coding	Benign
18	23557230	A	T	A23557230T	NPC1	NM_000271.5(NPC1):c.882-40T>A	noncoding	Benign
18	23560230	C	A	C23560230A	NPC1	NM_000271.5(NPC1):c.881+1G>T	noncoding	Pathogenic
18	23560391	G	A	G23560391A	NPC1	NM_000271.5(NPC1):c.721C>T:p.Gln241Ter	coding	Pathogenic/Likely_pathogenic
18	23560468	T	C	T23560468C	NPC1	NM_000271.5(NPC1):c.644A>G:p.His215Arg	coding	Benign
18	23561379	G	A	G23561379A	NPC1	NM_000271.5(NPC1):c.612C>T:p.Thr204=	coding	Benign
18	23561451	G	A	G23561451A	NPC1	NM_000271.5(NPC1):c.540C>T:p.Asp180=	coding	Benign
18	23561461	C	T	C23561461T	NPC1	NM_000271.5(NPC1):c.530G>A:p.Cys177Tyr	coding	Pathogenic/Likely_pathogenic
18	23561490	T	C	T23561490C	NPC1	NM_000271.5(NPC1):c.501A>G:p.Ser167=	coding	Benign/Likely_benign
18	23568841	C	T	C23568841T	NPC1	NM_000271.5(NPC1):c.445G>A:p.Gly149Arg	coding	Benign/Likely_benign
18	23568899	A	G	A23568899G	NPC1	NM_000271.5(NPC1):c.387T>C:p.Tyr129=	coding	Benign
18	23568940	G	A	G23568940A	NPC1	NM_000271.5(NPC1):c.346C>T:p.Arg116Ter	coding	Pathogenic
18	23568949	A	G	A23568949G	NPC1	NM_000271.5(NPC1):c.337T>C:p.Cys113Arg	coding	Pathogenic
18	23568980	A	C	A23568980C	NPC1	NM_000271.5(NPC1):c.306T>G:p.Tyr102Ter	coding	Pathogenic
18	23573551	C	T	C23573551T	NPC1	NM_000271.5(NPC1):c.81G>A:p.Trp27Ter	coding	Pathogenic
18	23586365	T	G	T23586365G	NPC1	NM_000271.5(NPC1):c.-22A>C	noncoding	Benign
18	23586375	G	A	G23586375A	NPC1	NM_000271.5(NPC1):c.-32C>T	noncoding	Benign/Likely_benign
18	23689950	C	T	C23689950T	LAMA3	NM_198129.4(LAMA3):c.267C>T:p.Thr89=	coding	Benign
18	23713937	T	C	T23713937C	LAMA3	NM_198129.4(LAMA3):c.312T>C:p.Tyr104=	coding	Benign
18	23753756	G	A	G23753756A	LAMA3	NM_198129.4(LAMA3):c.891G>A:p.Gly297=	coding	Benign
18	23773510	G	C	G23773510C	LAMA3	NM_198129.4(LAMA3):c.1196G>C:p.Gly399Ala	coding	Benign
18	23810442	A	G	A23810442G	LAMA3	NM_198129.4(LAMA3):c.1680A>G:p.Gly560=	coding	Benign
18	23822321	G	A	G23822321A	LAMA3	NM_198129.4(LAMA3):c.2374G>A:p.Val792Ile	coding	Benign
18	23827413	A	G	A23827413G	LAMA3	NM_198129.4(LAMA3):c.2769A>G:p.Ala923=	coding	Benign
18	23833905	T	C	T23833905C	LAMA3	NM_198129.3(LAMA3):c.2901T>C:p.Ala967=	coding	Benign
18	23836998	C	T	C23836998T	LAMA3	NM_198129.4(LAMA3):c.3002C>T:p.Ala1001Val	coding	Benign
18	23838858	T	C	T23838858C	LAMA3	NM_198129.4(LAMA3):c.3171T>C:p.Tyr1057=	coding	Benign
18	23845020	A	G	A23845020G	LAMA3	NM_198129.4(LAMA3):c.3615A>G:p.Leu1205=	coding	Benign
18	23847592	G	A	G23847592A	LAMA3	NM_198129.4(LAMA3):c.4060G>A:p.Glu1354Lys	coding	Benign
18	23847642	G	A	G23847642A	LAMA3	NM_198129.4(LAMA3):c.4110G>A:p.Glu1370=	coding	Benign
18	23857967	G	C	G23857967C	LAMA3	NM_198129.3(LAMA3):c.4260G>C:p.Gly1420=	coding	Benign
18	23861723	C	T	C23861723T	LAMA3	NM_198129.4(LAMA3):c.4500C>T:p.Asn1500=	coding	Benign
18	23861753	C	T	C23861753T	LAMA3	NM_198129.3(LAMA3):c.4530C>T:p.Pro1510=	coding	Benign
18	23861780	C	T	C23861780T	LAMA3	NM_198129.4(LAMA3):c.4557C>T:p.Val1519=	coding	Benign
18	23864885	T	G	T23864885G	LAMA3	NM_198129.4(LAMA3):c.4683+2T>G	noncoding	Pathogenic
18	23873067	C	A	C23873067A	LAMA3	NM_198129.4(LAMA3):c.4998+1406C>A	coding	Pathogenic
18	23873154	T	G	T23873154G	LAMA3	NM_198129.3(LAMA3):c.4998+1493T>G	coding	Benign
18	23873194	T	C	T23873194C	LAMA3	NM_198129.3(LAMA3):c.4998+1533T>C	coding	Benign/Likely_benign
18	23876307	G	T	G23876307T	LAMA3	NM_000227.5(LAMA3):c.185G>T:p.Gly62Val	coding	Benign
18	23876311	C	A	C23876311A	LAMA3	NM_000227.5(LAMA3):c.189C>A:p.Tyr63Ter	coding	Pathogenic
18	23876394	C	G	C23876394G	LAMA3	NM_000227.5(LAMA3):c.272C>G:p.Ser91Ter	coding	Pathogenic
18	23882001	C	T	C23882001T	LAMA3	NM_000227.5(LAMA3):c.351C>T:p.Ala117=	coding	Benign
18	23890029	C	T	C23890029T	LAMA3	NM_000227.5(LAMA3):c.495C>T:p.Phe165=	coding	Benign
18	23901269	C	G	C23901269G	LAMA3	NM_000227.5(LAMA3):c.1320C>G:p.Ala440=	coding	Benign
18	23904557	A	T	A23904557T	LAMA3	NM_198129.4(LAMA3):c.6478A>T:p.Lys2160Ter	coding	Pathogenic
18	23904634	C	T	C23904634T	LAMA3	NM_198129.3(LAMA3):c.6555C>T:p.Ala2185=	coding	Benign
18	23907636	C	G	C23907636G	LAMA3	NM_000227.5(LAMA3):c.1978C>G:p.Leu660Val	coding	Benign/Likely_benign
18	23907639	C	T	C23907639T	LAMA3	NM_000227.5(LAMA3):c.1981C>T:p.Arg661Ter	coding	Pathogenic
18	23907863	A	T	A23907863T	LAMA3	NM_000227.5(LAMA3):c.2116A>T:p.Arg706Ter	coding	Pathogenic
18	23909212	C	T	C23909212T	LAMA3	NM_000227.5(LAMA3):c.2248C>T:p.Gln750Ter	coding	Pathogenic/Likely_pathogenic
18	23912770	C	T	C23912770T	LAMA3	NM_198129.3(LAMA3):c.7218C>T:p.Asp2406=	coding	Benign/Likely_benign
18	23915298	C	T	C23915298T	LAMA3	NM_198129.3(LAMA3):c.7654C>T:p.Arg2552Ter	coding	Pathogenic
18	23916569	C	T	C23916569T	LAMA3	NM_198129.3(LAMA3):c.7797C>T:p.Asp2599=	coding	Benign/Likely_benign
18	23916590	G	A	G23916590A	LAMA3	NM_000227.5(LAMA3):c.2991G>A:p.Thr997=	coding	Benign
18	23916677	G	C	G23916677C	LAMA3	NM_000227.5(LAMA3):c.3078G>C:p.Leu1026=	coding	Benign
18	23921512	A	G	A23921512G	LAMA3	NM_198129.3(LAMA3):c.8104A>G:p.Thr2702Ala	coding	Benign
18	23921593	G	A	G23921593A	LAMA3	NM_000227.5(LAMA3):c.3350+8G>A	noncoding	Benign
18	23928766	G	A	G23928766A	LAMA3	NM_000227.5(LAMA3):c.3609+1G>A	coding	Pathogenic
18	23931070	C	A	C23931070A	LAMA3	NM_000227.5(LAMA3):c.3618C>A:p.Asn1206Lys	coding	Benign
18	23931208	G	C	G23931208C	LAMA3	NM_000227.5(LAMA3):c.3749+7G>C	noncoding	Benign
18	23931208	G	T	G23931208T	LAMA3	NM_198129.3(LAMA3):c.8576+7G>T	noncoding	Benign/Likely_benign
18	23932182	C	T	C23932182T	LAMA3	NM_198129.4(LAMA3):c.8599C>T:p.Gln2867Ter	coding	Pathogenic
18	23932212	C	T	C23932212T	LAMA3	NM_198129.3(LAMA3):c.8629C>T:p.His2877Tyr	coding	Benign/Likely_benign
18	23932292	G	A	G23932292A	LAMA3	NM_000227.5(LAMA3):c.3881+1G>A	coding	Pathogenic
18	23933804	C	T	C23933804T	LAMA3	NM_000227.5(LAMA3):c.3904C>T:p.Leu1302=	coding	Benign
18	23939258	C	T	C23939258T	LAMA3	NM_198129.3(LAMA3):c.8898C>T:p.Ser2966=	coding	Benign
18	23939300	C	T	C23939300T	LAMA3	NM_000227.5(LAMA3):c.4113C>T:p.Thr1371=	coding	Benign
18	23939301	C	T	C23939301T	LAMA3	NM_000227.5(LAMA3):c.4114C>T:p.Gln1372Ter	coding	Pathogenic
18	23939322	C	T	C23939322T	LAMA3	NM_000227.5(LAMA3):c.4135C>T:p.Gln1379Ter	coding	Pathogenic
18	23943777	G	A	G23943777A	LAMA3	NM_198129.4(LAMA3):c.9027-11G>A	noncoding	Benign
18	23946244	C	T	C23946244T	LAMA3	NM_000227.5(LAMA3):c.4484C>T:p.Ala1495Val	coding	Pathogenic
18	23949758	G	A	G23949758A	LAMA3	NM_000227.5(LAMA3):c.4525-7G>A	noncoding	Benign
18	23949766	G	A	G23949766A	LAMA3	NM_000227.5(LAMA3):c.4526G>A:p.Ser1509Asn	coding	Benign
18	23949841	C	G	C23949841G	LAMA3	NM_198129.4(LAMA3):c.9428C>G:p.Ser3143Ter	coding	Pathogenic
18	23949925	G	A	G23949925A	LAMA3	NM_198129.3(LAMA3):c.9511+1G>A	coding	Pathogenic
18	23950076	C	T	C23950076T	LAMA3	NM_198129.3(LAMA3):c.9559C>T:p.Arg3187Cys	coding	Benign/Likely_benign
18	23950107	A	G	A23950107G	LAMA3	NM_000227.5(LAMA3):c.4763A>G:p.His1588Arg	coding	Benign
18	23951670	C	T	C23951670T	LAMA3	NM_000227.5(LAMA3):c.4816-14C>T	noncoding	Benign
18	23954737	C	A	C23954737A	LAMA3	NM_000227.5(LAMA3):c.*89C>A	noncoding	Benign
18	23954739	C	T	C23954739T	LAMA3	NM_000227.5(LAMA3):c.*91C>T	noncoding	Benign
18	23954887	G	A	G23954887A	LAMA3	NM_000227.5(LAMA3):c.*239G>A	noncoding	Benign
18	23955043	A	T	A23955043T	LAMA3	NM_000227.5(LAMA3):c.*395A>T	noncoding	Benign
18	25227603	G	A	G25227603A	ZNF521	NM_015461.3(ZNF521):c.315C>T:p.Cys105=	coding	Benign
18	26227063	G	C	G26227063C	TAF4B	NM_005640.3(TAF4B):c.130G>C:p.Ala44Pro	coding	Benign
18	26227080	T	C	T26227080C	TAF4B	NM_005640.3(TAF4B):c.147T>C:p.Pro49=	coding	Benign
18	26265280	G	A	G26265280A	TAF4B	NM_005640.3(TAF4B):c.454G>A:p.Ala152Thr	coding	Benign
18	26265281	C	T	C26265281T	TAF4B	NM_005640.3(TAF4B):c.455C>T:p.Ala152Val	coding	Benign
18	26267611	T	G	T26267611G	TAF4B	NM_005640.3(TAF4B):c.585T>G:p.Pro195=	coding	Benign
18	26274810	A	G	A26274810G	TAF4B	NM_005640.3(TAF4B):c.745A>G:p.Ile249Val	coding	Benign
18	26282065	A	G	A26282065G	TAF4B	NM_005640.3(TAF4B):c.972+5A>G	noncoding	Benign
18	26285900	C	A	C26285900A	TAF4B	NM_005640.3(TAF4B):c.991C>A:p.Arg331=	coding	Benign
18	26285904	A	G	A26285904G	TAF4B	NM_005640.3(TAF4B):c.995A>G:p.Gln332Arg	coding	Benign
18	26285995	A	G	A26285995G	TAF4B	NM_005640.3(TAF4B):c.1086A>G:p.Thr362=	coding	Benign
18	26286034	G	T	G26286034T	TAF4B	NM_005640.3(TAF4B):c.1125G>T:p.Gln375His	coding	Benign
18	26293530	C	T	C26293530T	TAF4B	NM_005640.3(TAF4B):c.1831C>T:p.Arg611Ter	coding	Pathogenic
18	26459878	G	A	G26459878A	KCTD1	NM_001142730.3(KCTD1):c.2181C>T:p.Pro727=	coding	Benign
18	26476603	T	G	T26476603G	KCTD1	NM_001142730.3(KCTD1):c.2045A>C:p.His682Pro	coding	Pathogenic
18	26476617	G	T	G26476617T	KCTD1	NM_001142730.3(KCTD1):c.2031C>A:p.Asp677Glu	coding	Pathogenic
18	26501125	G	A	G26501125A	KCTD1	NM_001142730.3(KCTD1):c.1935C>T:p.Gly645=	coding	Benign
18	26501137	G	T	G26501137T	KCTD1	NM_001142730.3(KCTD1):c.1923C>A:p.His641Gln	coding	Pathogenic
18	26501138	T	G	T26501138G	KCTD1	NM_001142730.3(KCTD1):c.1922A>C:p.His641Pro	coding	Pathogenic
18	26501139	G	A	G26501139A	KCTD1	NM_001142730.3(KCTD1):c.1921C>T:p.His641Tyr	coding	Pathogenic
18	26501144	G	A	G26501144A	KCTD1	NM_001142730.3(KCTD1):c.1916C>T:p.Pro639Leu	coding	Pathogenic
18	26501144	G	C	G26501144C	KCTD1	NM_001142730.3(KCTD1):c.1916C>G:p.Pro639Arg	coding	Pathogenic
18	26501144	G	T	G26501144T	KCTD1	NM_001142730.3(KCTD1):c.1916C>A:p.Pro639His	coding	Pathogenic
18	26501147	G	T	G26501147T	KCTD1	NM_001142730.3(KCTD1):c.1913C>A:p.Ala638Glu	coding	Pathogenic
18	26501178	G	A	G26501178A	KCTD1	NM_001142730.3(KCTD1):c.1882C>T:p.Pro628Ser	coding	Pathogenic
18	26856289	C	T	C26856289T	AQP4	NM_001650.7(AQP4):c.894G>A:p.Val298=	coding	Benign
18	26856364	T	C	T26856364C	AQP4	NM_001650.7(AQP4):c.819A>G:p.Thr273=	coding	Benign
18	26861191	A	T	A26861191T	AQP4	NM_001650.7(AQP4):c.552T>A:p.Asp184Glu	coding	Benign
18	26865663	C	A	C26865663A	AQP4	NM_001650.7(AQP4):c.27G>T:p.Arg9=	coding	Benign
18	26916412	G	C	G26916412C	CHST9	NM_031422.6(CHST9):c.1179C>G:p.Pro393=	coding	Benign
18	27985623	T	C	T27985623C	CDH2	NM_001792.5(CDH2):c.1880A>G:p.Asp627Gly	coding	Pathogenic/Likely_pathogenic
18	27985664	G	C	G27985664C	CDH2	NM_001792.5(CDH2):c.1839C>G:p.Cys613Trp	coding	Pathogenic
18	27985701	T	G	T27985701G	CDH2	NM_001792.5(CDH2):c.1802A>C:p.Asn601Thr	coding	Pathogenic
18	27985714	C	A	C27985714A	CDH2	NM_001792.5(CDH2):c.1789G>T:p.Asp597Tyr	coding	Pathogenic
18	27985714	C	T	C27985714T	CDH2	NM_001792.5(CDH2):c.1789G>A:p.Asp597Asn	coding	Pathogenic/Likely_pathogenic
18	27992780	C	T	C27992780T	CDH2	NM_001792.5(CDH2):c.1219G>A:p.Asp407Asn	coding	Pathogenic
18	28003132	G	A	G28003132A	CDH2	NM_001792.5(CDH2):c.885C>T:p.Asp295=	coding	Benign
18	28003173	G	C	G28003173C	CDH2	NM_001792.5(CDH2):c.848-4C>G	noncoding	Benign
18	28009711	T	A	T28009711A	CDH2	NM_001792.5(CDH2):c.702+6A>T	noncoding	Benign
18	28009716	C	T	C28009716T	CDH2	NM_001792.5(CDH2):c.702+1G>A	noncoding	Pathogenic
18	28009733	T	G	T28009733G	CDH2	NM_001792.5(CDH2):c.686A>C:p.Gln229Pro	coding	Pathogenic
18	28011907	A	T	A28011907T	CDH2	NM_001792.5(CDH2):c.485T>A:p.Val162Asp	coding	Pathogenic
18	28147755	T	C	T28147755C	CDH2	NM_001792.5(CDH2):c.90A>G:p.Ala30=	coding	Benign
18	31001724	A	C	A31001724C	DSC3	NM_001941.5(DSC3):c.2129T>G:p.Leu710Ter	coding	Pathogenic
18	31022371	C	T	C31022371T	DSC3	NM_001941.5(DSC3):c.907G>A:p.Val303Ile	coding	Benign
18	31022453	T	C	T31022453C	DSC3	NM_001941.5(DSC3):c.825A>G:p.Thr275=	coding	Benign
18	31025852	T	G	T31025852G	DSC3	NM_001941.5(DSC3):c.538A>C:p.Lys180Gln	coding	Benign
18	31066919	A	G	A31066919G	DSC2	NM_024422.6(DSC2):c.*1096T>C	noncoding	Benign
18	31067436	A	G	A31067436G	DSC2	NM_024422.6(DSC2):c.*579T>C	noncoding	Benign
18	31067882	C	T	C31067882T	DSC2	NM_024422.6(DSC2):c.*133G>A	noncoding	Benign
18	31068105	G	A	G31068105A	DSC2	NM_024422.6(DSC2):c.2616C>T:p.Cys872=	coding	Benign/Likely_benign
18	31068234	C	T	C31068234T	DSC2	NM_024422.6(DSC2):c.2509-22G>A	noncoding	Benign
18	31069009	C	T	C31069009T	DSC2	NM_024422.6(DSC2):c.2393G>A:p.Arg798Gln	coding	Benign
18	31069023	G	T	G31069023T	DSC2	NM_024422.6(DSC2):c.2379C>A:p.Thr793=	coding	Benign/Likely_benign
18	31069076	T	C	T31069076C	DSC2	NM_024422.6(DSC2):c.2326A>G:p.Ile776Val	coding	Benign
18	31069200	A	G	A31069200G	DSC2	NM_024422.6(DSC2):c.2251-49T>C	noncoding	Benign
18	31070724	A	G	A31070724G	DSC2	NM_024422.6(DSC2):c.2250+2T>C	noncoding	Pathogenic
18	31070768	G	A	G31070768A	DSC2	NM_024422.6(DSC2):c.2208C>T:p.Asn736=	coding	Benign/Likely_benign
18	31070776	G	A	G31070776A	DSC2	NM_024422.6(DSC2):c.2200C>T:p.Gln734Ter	coding	Pathogenic
18	31071711	G	A	G31071711A	DSC2	NM_024422.6(DSC2):c.2019C>T:p.Thr673=	coding	Benign
18	31074782	C	A	C31074782A	DSC2	NM_024422.6(DSC2):c.1789G>T:p.Val597Phe	coding	Benign/Likely_benign
18	31074852	G	A	G31074852A	DSC2	NM_024422.6(DSC2):c.1719C>T:p.Asn573=	coding	Benign/Likely_benign
18	31074891	C	T	C31074891T	DSC2	NM_024422.6(DSC2):c.1680G>A:p.Thr560=	coding	Benign/Likely_benign
18	31079758	T	C	T31079758C	DSC2	NM_024422.6(DSC2):c.1663+89A>G	noncoding	Benign
18	31079850	G	A	G31079850A	DSC2	NM_024422.6(DSC2):c.1660C>T:p.Gln554Ter	coding	Pathogenic
18	31080266	T	C	T31080266C	DSC2	NM_024422.6(DSC2):c.1350A>G:p.Arg450=	coding	Benign/Likely_benign
18	31080347	C	T	C31080347T	DSC2	NM_024422.6(DSC2):c.1269G>A:p.Leu423=	coding	Benign/Likely_benign
18	31080357	G	A	G31080357A	DSC2	NM_024422.6(DSC2):c.1264-5C>T	noncoding	Benign
18	31082930	G	A	G31082930A	DSC2	NM_024422.6(DSC2):c.1073C>T:p.Thr358Ile	coding	Benign/Likely_benign
18	31083007	A	C	A31083007C	DSC2	NM_024422.6(DSC2):c.996T>G:p.Tyr332Ter	coding	Pathogenic
18	31086672	G	C	G31086672C	DSC2	NM_024422.6(DSC2):c.846C>G:p.Tyr282Ter	coding	Pathogenic/Likely_pathogenic
18	31086863	T	C	T31086863C	DSC2	NM_024422.6(DSC2):c.776-121A>G	noncoding	Benign
18	31087781	A	T	A31087781T	DSC2	NM_024422.6(DSC2):c.663T>A:p.Tyr221Ter	coding	Pathogenic/Likely_pathogenic
18	31088001	G	A	G31088001A	DSC2	NM_024422.6(DSC2):c.631-188C>T	noncoding	Benign
18	31089508	A	G	A31089508G	DSC2	NM_024422.6(DSC2):c.561T>C:p.Tyr187=	coding	Benign/Likely_benign
18	31089876	C	T	C31089876T	DSC2	NM_024422.6(DSC2):c.475-282G>A	noncoding	Benign
18	31091249	T	G	T31091249G	DSC2	NM_024422.6(DSC2):c.355-102A>C	noncoding	Benign
18	31092104	T	C	T31092104C	DSC2	NM_024422.6(DSC2):c.351A>G:p.Thr117=	coding	Benign/Likely_benign
18	31092187	C	A	C31092187A	DSC2	NM_024422.6(DSC2):c.268G>T:p.Glu90Ter	coding	Pathogenic
18	31092281	A	G	A31092281G	DSC2	NM_024422.6(DSC2):c.174T>C:p.Phe58=	coding	Benign/Likely_benign
18	31093578	G	A	G31093578A	DSC2	NM_024422.6(DSC2):c.135C>T:p.Ala45=	coding	Benign/Likely_benign
18	31093602	T	C	T31093602C	DSC2	NM_024422.6(DSC2):c.111A>G:p.Leu37=	coding	Benign
18	31093797	C	T	C31093797T	DSC2	NM_024422.6(DSC2):c.70-154G>A	noncoding	Benign
18	31093931	A	G	A31093931G	DSC2	NM_024422.6(DSC2):c.70-288T>C	noncoding	Benign
18	31101874	C	T	C31101874T	DSC2	NM_024422.6(DSC2):c.69+29G>A	noncoding	Benign
18	31101938	C	T	C31101938T	DSC2	NM_024422.6(DSC2):c.34G>A:p.Gly12Arg	coding	Benign/Likely_benign
18	31101940	T	C	T31101940C	DSC2	NM_024422.6(DSC2):c.32A>G:p.Asn11Ser	coding	Benign
18	31102016	T	G	T31102016G	DSC2	NM_024422.6(DSC2):c.-45A>C	noncoding	Benign
18	31132676	T	C	T31132676C	DSC1	NM_024421.2(DSC1):c.2130A>G:p.Thr710=	coding	Benign
18	31134031	A	C	A31134031C	DSC1	NM_024421.2(DSC1):c.1976T>G:p.Met659Arg	coding	Benign
18	31140033	G	C	G31140033C	DSC1	NM_024421.2(DSC1):c.1520+9C>G	noncoding	Benign
18	31154802	A	G	A31154802G	DSC1	NM_024421.2(DSC1):c.599T>C:p.Ile200Thr	coding	Benign
18	31318331	A	G	A31318331G	DSG1	NM_001942.4(DSG1):c.31A>G:p.Met11Val	coding	Benign
18	31326580	G	A	G31326580A	DSG1	NM_001942.4(DSG1):c.49-1G>A	noncoding	Pathogenic
18	31326873	G	A	G31326873A	DSG1	NM_001942.4(DSG1):c.85-1G>A	noncoding	Pathogenic
18	31326922	C	T	C31326922T	DSG1	NM_001942.4(DSG1):c.133C>T:p.Arg45Ter	coding	Pathogenic/Likely_pathogenic
18	31328213	C	T	C31328213T	DSG1	NM_001942.4(DSG1):c.241C>T:p.Gln81Ter	coding	Pathogenic
18	31328215	G	C	G31328215C	DSG1	NM_001942.4(DSG1):c.243G>C:p.Gln81His	coding	Benign
18	31328341	C	T	C31328341T	DSG1	NM_001942.4(DSG1):c.369C>T:p.Phe123=	coding	Benign
18	31329949	A	T	A31329949T	DSG1	NM_001942.4(DSG1):c.430A>T:p.Arg144Ter	coding	Pathogenic
18	31331784	C	T	C31331784T	DSG1	NM_001942.4(DSG1):c.601C>T:p.Gln201Ter	coding	Pathogenic
18	31333628	C	T	C31333628T	DSG1	NM_001942.4(DSG1):c.724C>T:p.Arg242Ter	coding	Pathogenic
18	31333636	C	T	C31333636T	DSG1	NM_001942.4(DSG1):c.732C>T:p.Gly244=	coding	Benign
18	31336532	C	G	C31336532G	DSG1	NM_001942.4(DSG1):c.1184C>G:p.Thr395Ser	coding	Benign
18	31339901	T	C	T31339901C	DSG1	NM_001942.4(DSG1):c.1563T>C:p.Ser521=	coding	Benign
18	31343943	A	G	A31343943G	DSG1	NM_001942.4(DSG1):c.1839A>G:p.Ile613Met	coding	Benign
18	31346093	G	T	G31346093T	DSG1	NM_001942.4(DSG1):c.1995G>T:p.Met665Ile	coding	Benign
18	31354311	C	T	C31354311T	DSG1	NM_001942.4(DSG1):c.2115C>T:p.Tyr705=	coding	Benign
18	31354317	T	A	T31354317A	DSG1	NM_001942.4(DSG1):c.2121T>A:p.Asp707Glu	coding	Benign
18	31354330	C	T	C31354330T	DSG1	NM_001942.4(DSG1):c.2134C>T:p.Arg712Cys	coding	Benign
18	31354335	A	G	A31354335G	DSG1	NM_001942.4(DSG1):c.2139A>G:p.Pro713=	coding	Benign
18	31354411	A	G	A31354411G	DSG1	NM_001942.4(DSG1):c.2215A>G:p.Ile739Val	coding	Benign
18	31354412	T	C	T31354412C	DSG1	NM_001942.4(DSG1):c.2216T>C:p.Ile739Thr	coding	Benign
18	31354510	G	A	G31354510A	DSG1	NM_001942.4(DSG1):c.2314G>A:p.Asp772Asn	coding	Benign
18	31354518	T	C	T31354518C	DSG1	NM_001942.4(DSG1):c.2322T>C:p.Ser774=	coding	Benign
18	31354668	G	A	G31354668A	DSG1	NM_001942.4(DSG1):c.2472G>A:p.Lys824=	coding	Benign
18	31354718	A	T	A31354718T	DSG1	NM_001942.4(DSG1):c.2522A>T:p.Tyr841Phe	coding	Benign
18	31354809	A	T	A31354809T	DSG1	NM_001942.4(DSG1):c.2613A>T:p.Pro871=	coding	Benign
18	31354818	C	T	C31354818T	DSG1	NM_001942.4(DSG1):c.2622C>T:p.Gly874=	coding	Benign
18	31354855	C	T	C31354855T	DSG1;DSG1-AS1	NM_001942.4(DSG1):c.2659C>T:p.Arg887Ter	coding	Pathogenic
18	31355110	G	A	G31355110A	DSG1	NM_001942.4(DSG1):c.2914G>A:p.Gly972Ser	coding	Benign
18	31355219	G	A	G31355219A	DSG1	NM_001942.4(DSG1):c.3023G>A:p.Gly1008Glu	coding	Benign
18	31376932	A	G	A31376932G	DSG4	NM_177986.5(DSG4):c.21A>G:p.Arg7=	coding	Benign/Likely_benign
18	31376941	C	T	C31376941T	DSG4	NM_177986.5(DSG4):c.30C>T:p.Cys10=	coding	Benign
18	31386820	G	T	G31386820T	DSG4	NM_177986.5(DSG4):c.216+1G>T	coding	Pathogenic
18	31388408	G	A	G31388408A	DSG4	NM_177986.5(DSG4):c.258G>A:p.Arg86=	coding	Benign
18	31388961	G	A	G31388961A	DSG4	NM_177986.5(DSG4):c.460G>A:p.Ala154Thr	coding	Benign/Likely_benign
18	31388996	C	T	C31388996T	DSG4	NM_177986.5(DSG4):c.495C>T:p.Ser165=	coding	Benign
18	31390712	T	C	T31390712C	DSG4	NM_177986.5(DSG4):c.574T>C:p.Ser192Pro	coding	Pathogenic
18	31391193	C	G	C31391193G	DSG4	NM_177986.5(DSG4):c.800C>G:p.Pro267Arg	coding	Pathogenic
18	31392190	G	A	G31392190A	DSG4	NM_177986.5(DSG4):c.855G>A:p.Ser285=	coding	Benign/Likely_benign
18	31392200	C	T	C31392200T	DSG4	NM_177986.5(DSG4):c.865C>T:p.Arg289Ter	coding	Pathogenic
18	31400919	T	C	T31400919C	DSG4	NM_177986.5(DSG4):c.1316T>C:p.Ile439Thr	coding	Benign/Likely_benign
18	31403537	C	T	C31403537T	DSG4	NM_177986.5(DSG4):c.1539C>T:p.Ile513=	coding	Benign/Likely_benign
18	31403566	C	T	C31403566T	DSG4	NM_177986.5(DSG4):c.1568C>T:p.Pro523Leu	coding	Benign/Likely_benign
18	31403602	T	C	T31403602C	DSG4	NM_177986.5(DSG4):c.1604T>C:p.Ile535Thr	coding	Benign
18	31406370	A	C	A31406370C	DSG4	NM_177986.5(DSG4):c.1930A>C:p.Ile644Leu	coding	Benign
18	31411386	A	G	A31411386G	DSG4	NM_177986.5(DSG4):c.2293A>G:p.Thr765Ala	coding	Benign/Likely_benign
18	31412863	A	C	A31412863C	DSG4	NM_177986.5(DSG4):c.2391A>C:p.Arg797=	coding	Benign
18	31412914	C	T	C31412914T	DSG4	NM_177986.5(DSG4):c.2442C>T:p.Pro814=	coding	Benign/Likely_benign
18	31413061	A	C	A31413061C	DSG4	NM_177986.5(DSG4):c.2589A>C:p.Pro863=	coding	Benign/Likely_benign
18	31413220	A	G	A31413220G	DSG4	NM_177986.5(DSG4):c.2748A>G:p.Pro916=	coding	Benign
18	31413268	T	G	T31413268G	DSG4	NM_177986.5(DSG4):c.2796T>G:p.Asn932Lys	coding	Benign
18	31413538	C	A	C31413538A	DSG4	NM_177986.5(DSG4):c.3066C>A:p.Pro1022=	coding	Benign
18	31413541	G	A	G31413541A	DSG4	NM_177986.5(DSG4):c.3069G>A:p.Met1023Ile	coding	Benign/Likely_benign
18	31413626	C	T	C31413626T	DSG4	NM_177986.5(DSG4):c.*31C>T	noncoding	Benign
18	31459983	G	T	G31459983T	DSG3	NM_001944.3(DSG3):c.656G>T:p.Arg219Leu	coding	Benign
18	31460006	C	A	C31460006A	DSG3	NM_001944.3(DSG3):c.679C>A:p.Arg227=	coding	Benign
18	31469175	C	T	C31469175T	DSG3	NM_001944.3(DSG3):c.1723C>T:p.Arg575Trp	coding	Benign
18	31474227	C	T	C31474227T	DSG3	NM_001944.3(DSG3):c.2208C>T:p.Gly736=	coding	Benign
18	31475741	T	C	T31475741C	DSG3	NM_001944.3(DSG3):c.2481T>C:p.Pro827=	coding	Benign
18	31476138	A	G	A31476138G	DSG3	NM_001944.3(DSG3):c.2878A>G:p.Ile960Val	coding	Benign
18	31498254	G	A	G31498254A	DSG2	NM_001943.5(DSG2):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
18	31498257	G	A	G31498257A	DSG2	NM_001943.5(DSG2):c.6G>A:p.Ala2=	coding	Benign/Likely_benign
18	31498553	A	C	A31498553C	DSG2	NM_001943.5(DSG2):c.45+257A>C	noncoding	Benign
18	31518248	A	G	A31518248G	DSG2	NM_001943.5(DSG2):c.55A>G:p.Asn19Asp	coding	Benign/Likely_benign
18	31518250	C	T	C31518250T	DSG2	NM_001943.5(DSG2):c.57C>T:p.Asn19=	coding	Benign/Likely_benign
18	31518284	C	T	C31518284T	DSG2	NM_001943.5(DSG2):c.81+10C>T	noncoding	Benign/Likely_benign
18	31518360	G	A	G31518360A	DSG2	NM_001943.5(DSG2):c.81+86G>A	noncoding	Benign
18	31518382	C	T	C31518382T	DSG2	NM_001943.5(DSG2):c.81+108C>T	noncoding	Benign
18	31518511	A	G	A31518511G	DSG2	NM_001943.5(DSG2):c.81+237A>G	noncoding	Benign
18	31519858	G	A	G31519858A	DSG2	NM_001943.5(DSG2):c.137G>A:p.Arg46Gln	coding	Pathogenic
18	31519867	G	A	G31519867A	DSG2	NM_001943.5(DSG2):c.146G>A:p.Arg49His	coding	Pathogenic/Likely_pathogenic
18	31519953	G	A	G31519953A	DSG2	NM_001943.5(DSG2):c.216+16G>A	noncoding	Benign
18	31520798	G	T	G31520798T	DSG2	NM_001943.5(DSG2):c.217-5G>T	noncoding	Benign/Likely_benign
18	31520852	A	G	A31520852G	DSG2	NM_001943.5(DSG2):c.266A>G:p.Tyr89Cys	coding	Benign/Likely_benign
18	31521193	T	G	T31521193G	DSG2	NM_001943.5(DSG2):c.473T>G:p.Val158Gly	coding	Benign/Likely_benign
18	31521244	G	C	G31521244C	DSG2	NM_001943.5(DSG2):c.523+1G>C	coding	Pathogenic
18	31521245	T	C	T31521245C	DSG2	NM_001943.5(DSG2):c.523+2T>C	noncoding	Pathogenic/Likely_pathogenic
18	31521252	C	T	C31521252T	DSG2	NM_001943.5(DSG2):c.523+9C>T	noncoding	Benign
18	31521267	T	A	T31521267A	DSG2	NM_001943.5(DSG2):c.523+24T>A	noncoding	Benign
18	31521495	A	G	A31521495G	DSG2	NM_001943.5(DSG2):c.523+252A>G	noncoding	Benign
18	31521840	G	C	G31521840C	DSG2	NM_001943.5(DSG2):c.524-243G>C	noncoding	Benign
18	31522074	T	A	T31522074A	DSG2	NM_001943.5(DSG2):c.524-9T>A	noncoding	Benign
18	31524172	A	G	A31524172G	DSG2	NM_001943.5(DSG2):c.691-276A>G	noncoding	Benign
18	31524241	G	A	G31524241A	DSG2	NM_001943.5(DSG2):c.691-207G>A	noncoding	Benign
18	31524301	T	C	T31524301C	DSG2	NM_001943.5(DSG2):c.691-147T>C	noncoding	Benign
18	31524526	C	T	C31524526T	DSG2	NM_001943.5(DSG2):c.769C>T:p.Gln257Ter	coding	Pathogenic
18	31524554	A	G	A31524554G	DSG2	NM_001943.5(DSG2):c.797A>G:p.Asn266Ser	coding	Pathogenic
18	31524601	C	A	C31524601A	DSG2	NM_001943.5(DSG2):c.828+16C>A	noncoding	Benign
18	31524735	C	T	C31524735T	DSG2	NM_001943.5(DSG2):c.861C>T:p.Asn287=	coding	Benign
18	31524751	A	G	A31524751G	DSG2	NM_001943.5(DSG2):c.877A>G:p.Ile293Val	coding	Benign
18	31524792	G	A	G31524792A	DSG2	NM_001943.5(DSG2):c.918G>A:p.Trp306Ter	coding	Pathogenic
18	31524915	G	A	G31524915A	DSG2	NM_001943.5(DSG2):c.1014+27G>A	noncoding	Benign
18	31525107	G	T	G31525107T	DSG2	NM_001943.5(DSG2):c.1014+219G>T	noncoding	Benign
18	31525154	T	C	T31525154C	DSG2	NM_001943.5(DSG2):c.1014+266T>C	noncoding	Benign
18	31530807	C	A	C31530807A	DSG2	NM_001943.5(DSG2):c.1015-180C>A	noncoding	Benign
18	31531023	A	G	A31531023G	DSG2	NM_001943.5(DSG2):c.1051A>G:p.Ser351Gly	coding	Benign/Likely_benign
18	31531401	G	A	G31531401A	DSG2	NM_001943.5(DSG2):c.1280+149G>A	noncoding	Benign
18	31531486	A	G	A31531486G	DSG2	NM_001943.5(DSG2):c.1280+234A>G	noncoding	Benign
18	31531539	C	A	C31531539A	DSG2	NM_001943.5(DSG2):c.1280+287C>A	noncoding	Benign
18	31536269	C	T	C31536269T	DSG2	NM_001943.5(DSG2):c.1491C>T:p.Pro497=	coding	Benign/Likely_benign
18	31536321	G	A	G31536321A	DSG2	NM_001943.5(DSG2):c.1543G>A:p.Val515Ile	coding	Benign/Likely_benign
18	31536499	T	C	T31536499C	DSG2	NM_001943.5(DSG2):c.1651+70T>C	noncoding	Benign
18	31538739	C	T	C31538739T	DSG2	NM_001943.5(DSG2):c.1652-12C>T	noncoding	Benign/Likely_benign
18	31538849	C	T	C31538849T	DSG2	NM_001943.5(DSG2):c.1750C>T:p.Gln584Ter	coding	Pathogenic
18	31538974	G	C	G31538974C	DSG2	NM_001943.5(DSG2):c.1875G>C:p.Leu625=	coding	Benign/Likely_benign
18	31539295	T	C	T31539295C	DSG2	NM_001943.5(DSG2):c.1879+317T>C	noncoding	Benign
18	31540912	T	C	T31540912C	DSG2	NM_001943.5(DSG2):c.1880-281T>C	noncoding	Benign
18	31541191	A	G	A31541191G	DSG2	NM_001943.5(DSG2):c.1880-2A>G	noncoding	Pathogenic/Likely_pathogenic
18	31541224	C	T	C31541224T	DSG2	NM_001943.5(DSG2):c.1911C>T:p.Cys637=	coding	Benign/Likely_benign
18	31541227	A	G	A31541227G	DSG2	NM_001943.5(DSG2):c.1914A>G:p.Gly638=	coding	Benign/Likely_benign
18	31541525	C	T	C31541525T	DSG2	NM_001943.5(DSG2):c.2001+211C>T	noncoding	Benign
18	31541558	G	C	G31541558C	DSG2	NM_001943.5(DSG2):c.2001+244G>C	noncoding	Benign
18	31541622	C	T	C31541622T	DSG2	NM_001943.5(DSG2):c.2001+308C>T	noncoding	Benign
18	31542655	G	A	G31542655A	DSG2	NM_001943.5(DSG2):c.2137G>A:p.Glu713Lys	coding	Benign/Likely_benign
18	31542729	C	T	C31542729T	DSG2	NM_001943.5(DSG2):c.2211C>T:p.Gly737=	coding	Benign
18	31542836	G	A	G31542836A	DSG2	NM_001943.5(DSG2):c.2318G>A:p.Arg773Lys	coding	Benign
18	31545735	C	A	C31545735A	DSG2	NM_001943.5(DSG2):c.2349C>A:p.Tyr783Ter	coding	Pathogenic/Likely_pathogenic
18	31545783	T	G	T31545783G	DSG2	NM_001943.5(DSG2):c.2397T>G:p.Tyr799Ter	coding	Pathogenic
18	31545891	A	G	A31545891G	DSG2	NM_001943.5(DSG2):c.2505A>G:p.Thr835=	coding	Benign
18	31545954	A	C	A31545954C	DSG2	NM_001943.5(DSG2):c.2568A>C:p.Lys856Asn	coding	Benign
18	31545972	T	C	T31545972C	DSG2	NM_001943.5(DSG2):c.2586T>C:p.Ser862=	coding	Benign
18	31545973	A	C	A31545973C	DSG2	NM_001943.5(DSG2):c.2587A>C:p.Met863Leu	coding	Benign/Likely_benign
18	31546033	T	C	T31546033C	DSG2	NM_001943.5(DSG2):c.2647T>C:p.Ser883Pro	coding	Benign
18	31546089	A	G	A31546089G	DSG2	NM_001943.5(DSG2):c.2703A>G:p.Lys901=	coding	Benign/Likely_benign
18	31546094	C	T	C31546094T	DSG2	NM_001943.5(DSG2):c.2708C>T:p.Thr903Ile	coding	Benign
18	31546145	T	G	T31546145G	DSG2	NM_001943.5(DSG2):c.2759T>G:p.Val920Gly	coding	Benign/Likely_benign
18	31546272	T	G	T31546272G	DSG2	NM_001943.5(DSG2):c.2886T>G:p.Ile962Met	coding	Benign/Likely_benign
18	31546468	G	A	G31546468A	DSG2	NM_001943.5(DSG2):c.3082G>A:p.Gly1028Ser	coding	Benign/Likely_benign
18	31546521	A	C	A31546521C	DSG2	NM_001943.5(DSG2):c.3135A>C:p.Thr1045=	coding	Benign/Likely_benign
18	31546595	C	T	C31546595T	DSG2	NM_001943.5(DSG2):c.3209C>T:p.Thr1070Met	coding	Benign/Likely_benign
18	31546629	C	T	C31546629T	DSG2	NM_001943.5(DSG2):c.3243C>T:p.Val1081=	coding	Benign/Likely_benign
18	31546681	A	G	A31546681G	DSG2	NM_001943.5(DSG2):c.3295A>G:p.Thr1099Ala	coding	Benign/Likely_benign
18	31546707	T	C	T31546707C	DSG2	NM_001943.5(DSG2):c.3321T>C:p.Val1107=	coding	Benign
18	31547308	A	G	A31547308G	DSG2	NM_001943.5(DSG2):c.*565A>G	noncoding	Benign
18	31548082	G	A	G31548082A	DSG2	NM_001943.5(DSG2):c.*1339G>A	noncoding	Benign
18	31548609	T	C	T31548609C	DSG2	NM_001943.5(DSG2):c.*1866T>C	noncoding	Benign
18	31592889	C	T	C31592889T	TTR	NM_000371.3(TTR):c.70-7C>T	noncoding	Benign/Likely_benign
18	31592902	G	A	G31592902A	TTR	NM_000371.4(TTR):c.76G>A:p.Gly26Ser	coding	Benign
18	31592921	T	C	T31592921C	TTR	NM_000371.3(TTR):c.95T>C:p.Leu32Pro	coding	Pathogenic
18	31592939	A	G	A31592939G	TTR	NM_000371.4(TTR):c.113A>G:p.Asp38Gly	coding	Pathogenic
18	31592942	C	A	C31592942A	TTR	NM_000371.3(TTR):c.116C>A:p.Ala39Asp	coding	Pathogenic/Likely_pathogenic
18	31592944	G	A	G31592944A	TTR	NM_000371.3(TTR):c.118G>A:p.Val40Ile	coding	Pathogenic
18	31592956	C	T	C31592956T	TTR	NM_000371.3(TTR):c.130C>T:p.Pro44Ser	coding	Pathogenic
18	31592959	G	A	G31592959A	TTR	NM_000371.3(TTR):c.133G>A:p.Ala45Thr	coding	Pathogenic
18	31592974	G	A	G31592974A	TTR	NM_000371.4(TTR):c.148G>A:p.Val50Met	coding	Pathogenic
18	31592974	G	C	G31592974C	TTR	NM_000371.3(TTR):c.148G>C:p.Val50Leu	coding	Pathogenic
18	31592975	T	C	T31592975C	TTR	NM_000371.3(TTR):c.149T>C:p.Val50Ala	coding	Pathogenic
18	31592975	T	G	T31592975G	TTR	NM_000371.3(TTR):c.149T>G:p.Val50Gly	coding	Pathogenic
18	31592983	T	A	T31592983A	TTR	NM_000371.3(TTR):c.157T>A:p.Phe53Ile	coding	Pathogenic
18	31592983	T	C	T31592983C	TTR	NM_000371.3(TTR):c.157T>C:p.Phe53Leu	coding	Pathogenic
18	31592986	A	G	A31592986G	TTR	NM_000371.3(TTR):c.160A>G:p.Arg54Gly	coding	Pathogenic
18	31592987	G	C	G31592987C	TTR	NM_000371.4(TTR):c.161G>C:p.Arg54Thr	coding	Pathogenic
18	31592992	G	C	G31592992C	TTR	NM_000371.3(TTR):c.166G>C:p.Ala56Pro	coding	Pathogenic
18	31592999	A	C	A31592999C	TTR	NM_000371.3(TTR):c.173A>C:p.Asp58Ala	coding	Pathogenic
18	31593011	A	G	A31593011G	TTR	NM_000371.3(TTR):c.185A>G:p.Glu62Gly	coding	Pathogenic
18	31593017	T	C	T31593017C	TTR	NM_000371.3(TTR):c.191T>C:p.Phe64Ser	coding	Pathogenic
18	31593020	C	A	C31593020A	TTR	NM_000371.3(TTR):c.194C>A:p.Ala65Asp	coding	Pathogenic/Likely_pathogenic
18	31593025	G	A	G31593025A	TTR	NM_000371.3(TTR):c.199G>A:p.Gly67Arg	coding	Pathogenic
18	31593025	G	C	G31593025C	TTR	NM_000371.3(TTR):c.199G>C:p.Gly67Arg	coding	Pathogenic
18	31593026	G	A	G31593026A	TTR	NM_000371.4(TTR):c.200G>A:p.Gly67Glu	coding	Pathogenic
18	31593026	G	C	G31593026C	TTR	NM_000371.3(TTR):c.200G>C:p.Gly67Ala	coding	Pathogenic
18	31595124	A	G	A31595124G	TTR	NM_000371.3(TTR):c.205A>G:p.Thr69Ala	coding	Pathogenic
18	31595128	G	T	G31595128T	TTR	NM_000371.3(TTR):c.209G>T:p.Ser70Ile	coding	Pathogenic
18	31595129	T	A	T31595129A	TTR	NM_000371.3(TTR):c.210T>A:p.Ser70Arg	coding	Pathogenic
18	31595129	T	G	T31595129G	TTR	NM_000371.3(TTR):c.210T>G:p.Ser70Arg	coding	Pathogenic
18	31595137	G	A	G31595137A	TTR	NM_000371.3(TTR):c.218G>A:p.Gly73Glu	coding	Pathogenic
18	31595139	G	A	G31595139A	TTR	NM_000371.3(TTR):c.220G>A:p.Glu74Lys	coding	Pathogenic
18	31595143	T	C	T31595143C	TTR	NM_000371.3(TTR):c.224T>C:p.Leu75Pro	coding	Pathogenic
18	31595143	T	G	T31595143G	TTR	NM_000371.4(TTR):c.224T>G:p.Leu75Arg	coding	Pathogenic
18	31595148	G	A	G31595148A	TTR	NM_000371.3(TTR):c.229G>A:p.Gly77Arg	coding	Pathogenic
18	31595152	T	A	T31595152A	TTR	NM_000371.3(TTR):c.233T>A:p.Leu78His	coding	Pathogenic
18	31595152	T	G	T31595152G	TTR	NM_000371.3(TTR):c.233T>G:p.Leu78Arg	coding	Pathogenic
18	31595157	A	G	A31595157G	TTR	NM_000371.4(TTR):c.238A>G:p.Thr80Ala	coding	Pathogenic
18	31595160	G	A	G31595160A	TTR	NM_000371.3(TTR):c.241G>A:p.Glu81Lys	coding	Pathogenic
18	31595169	T	C	T31595169C	TTR	NM_000371.3(TTR):c.250T>C:p.Phe84Leu	coding	Pathogenic
18	31595171	T	G	T31595171G	TTR	NM_000371.4(TTR):c.252T>G:p.Phe84Leu	coding	Pathogenic/Likely_pathogenic
18	31595181	A	T	A31595181T	TTR	NM_000371.3(TTR):c.262A>T:p.Ile88Leu	coding	Pathogenic/Likely_pathogenic
18	31595184	T	C	T31595184C	TTR	NM_000371.3(TTR):c.265T>C:p.Tyr89His	coding	Pathogenic/Likely_pathogenic
18	31595189	A	C	A31595189C	TTR	NM_000371.3(TTR):c.270A>C:p.Lys90Asn	coding	Pathogenic
18	31595191	T	C	T31595191C	TTR	NM_000371.3(TTR):c.272T>C:p.Val91Ala	coding	Pathogenic
18	31595196	A	G	A31595196G	TTR	NM_000371.4(TTR):c.277A>G:p.Ile93Val	coding	Pathogenic/Likely_pathogenic
18	31595209	C	A	C31595209A	TTR	NM_000371.3(TTR):c.290C>A:p.Ser97Tyr	coding	Pathogenic
18	31595230	T	G	T31595230G	TTR	NM_000371.3(TTR):c.311T>G:p.Ile104Ser	coding	Pathogenic
18	31595242	A	G	A31595242G	TTR	NM_000371.4(TTR):c.323A>G:p.His108Arg	coding	Pathogenic
18	31595244	G	C	G31595244C	TTR	NM_000371.3(TTR):c.325G>C:p.Glu109Gln	coding	Pathogenic
18	31598550	G	C	G31598550C	TTR	NM_000371.3(TTR):c.337-18G>C	noncoding	Benign
18	31598580	G	T	G31598580T	TTR	NM_000371.4(TTR):c.349G>T:p.Ala117Ser	coding	Pathogenic/Likely_pathogenic
18	31598581	C	G	C31598581G	TTR	NM_000371.3(TTR):c.350C>G:p.Ala117Gly	coding	Pathogenic
18	31598591	C	T	C31598591T	TTR	NM_000371.4(TTR):c.360C>T:p.Ser120=	coding	Benign
18	31598603	C	G	C31598603G	TTR	NM_000371.3(TTR):c.372C>G:p.Arg124=	coding	Benign/Likely_benign
18	31598610	A	G	A31598610G	TTR	NM_000371.3(TTR):c.379A>G:p.Ile127Val	coding	Pathogenic/Likely_pathogenic
18	31598622	C	A	C31598622A	TTR	NM_000371.3(TTR):c.391C>A:p.Leu131Met	coding	Pathogenic
18	31598631	T	C	T31598631C	TTR	NM_000371.3(TTR):c.400T>C:p.Tyr134His	coding	Pathogenic
18	31598632	A	G	A31598632G	TTR	NM_000371.3(TTR):c.401A>G:p.Tyr134Cys	coding	Pathogenic
18	31598639	T	C	T31598639C	TTR	NM_000371.3(TTR):c.408T>C:p.Tyr136=	coding	Benign
18	31598655	G	A	G31598655A	TTR	NM_000371.4(TTR):c.424G>A:p.Val142Ile	coding	Pathogenic
18	31598668	A	G	A31598668G	TTR	NM_000371.3(TTR):c.437A>G:p.Lys146Arg	coding	Benign/Likely_benign
18	31598696	C	A	C31598696A	TTR	NM_000371.3(TTR):c.*21C>A	noncoding	Benign
18	31598866	C	T	C31598866T	TTR	NM_000371.3(TTR):c.*191C>T	noncoding	Benign
18	31599020	G	A	G31599020A	TTR	NM_000371.3(TTR):c.*345G>A	noncoding	Benign
18	31684333	T	C	T31684333C	B4GALT6	NM_004775.4(B4GALT6):c.94A>G:p.Ile32Val	coding	Benign
18	31864618	G	A	G31864618A	TRAPPC8	NM_014939.4(TRAPPC8):c.2745+9C>T	noncoding	Benign
18	31866839	T	C	T31866839C	TRAPPC8	NM_014939.4(TRAPPC8):c.2590+10A>G	noncoding	Benign
18	31931460	T	C	T31931460C	TRAPPC8	NM_014939.4(TRAPPC8):c.221A>G:p.Asn74Ser	coding	Benign
18	32018953	G	A	G32018953A	RNF125	NM_017831.4(RNF125):c.90G>A:p.Leu30=	coding	Benign
18	32018995	A	G	A32018995G	RNF125	NM_017831.4(RNF125):c.132A>G:p.Leu44=	coding	Benign
18	32037251	C	T	C32037251T	RNF125	NM_017831.4(RNF125):c.300C>T:p.Cys100=	coding	Benign
18	32042184	C	T	C32042184T	RNF125	NM_017831.4(RNF125):c.324C>T:p.Cys108=	coding	Benign
18	32042196	G	A	G32042196A	RNF125	NM_017831.4(RNF125):c.336G>A:p.Met112Ile	coding	Pathogenic
18	32042247	A	G	A32042247G	RNF125	NM_017831.4(RNF125):c.387A>G:p.Leu129=	coding	Benign
18	32045673	T	G	T32045673G	RNF125	NM_017831.4(RNF125):c.445T>G:p.Tyr149Asp	coding	Benign
18	32045717	G	A	G32045717A	RNF125	NM_017831.4(RNF125):c.489G>A:p.Ser163=	coding	Benign
18	32065917	C	T	C32065917T	RNF125	NM_017831.4(RNF125):c.520C>T:p.Arg174Cys	coding	Pathogenic
18	32065967	A	T	A32065967T	RNF125	NM_017831.4(RNF125):c.570A>T:p.Arg190Ser	coding	Benign
18	32068375	C	T	C32068375T	RNF125	NM_017831.4(RNF125):c.690C>T:p.Asn230=	coding	Benign
18	33738520	C	T	C33738520T	ASXL3	NM_030632.3(ASXL3):c.1116C>T:p.Leu372=	coding	Benign
18	33738593	C	T	C33738593T	ASXL3	NM_030632.3(ASXL3):c.1189C>T:p.Gln397Ter	coding	Pathogenic
18	33738611	C	T	C33738611T	ASXL3	NM_030632.3(ASXL3):c.1207C>T:p.Gln403Ter	coding	Pathogenic
18	33738614	C	T	C33738614T	ASXL3	NM_030632.3(ASXL3):c.1210C>T:p.Gln404Ter	coding	Pathogenic
18	33738720	C	G	C33738720G	ASXL3	NM_030632.3(ASXL3):c.1316C>G:p.Ser439Ter	coding	Pathogenic
18	33738755	C	T	C33738755T	ASXL3	NM_030632.3(ASXL3):c.1351C>T:p.Gln451Ter	coding	Pathogenic
18	33738800	C	T	C33738800T	ASXL3	NM_030632.3(ASXL3):c.1396C>T:p.Gln466Ter	coding	Pathogenic
18	33738813	A	C	A33738813C	ASXL3	NM_030632.3(ASXL3):c.1409A>C:p.His470Pro	coding	Benign/Likely_benign
18	33738875	C	T	C33738875T	ASXL3	NM_030632.3(ASXL3):c.1471C>T:p.Gln491Ter	coding	Pathogenic
18	33738939	T	A	T33738939A	ASXL3	NM_030632.3(ASXL3):c.1535T>A:p.Leu512Ter	coding	Pathogenic
18	33738986	G	T	G33738986T	ASXL3	NM_030632.3(ASXL3):c.1582G>T:p.Glu528Ter	coding	Pathogenic
18	33738989	G	T	G33738989T	ASXL3	NM_030632.3(ASXL3):c.1585G>T:p.Glu529Ter	coding	Pathogenic
18	33739016	G	T	G33739016T	ASXL3	NM_030632.3(ASXL3):c.1612G>T:p.Glu538Ter	coding	Pathogenic
18	33739086	C	A	C33739086A	ASXL3	NM_030632.3(ASXL3):c.1682C>A:p.Ser561Ter	coding	Pathogenic
18	33739142	G	T	G33739142T	ASXL3	NM_030632.3(ASXL3):c.1738G>T:p.Glu580Ter	coding	Pathogenic
18	33739181	G	T	G33739181T	ASXL3	NM_030632.3(ASXL3):c.1777G>T:p.Glu593Ter	coding	Pathogenic
18	33739187	C	T	C33739187T	ASXL3	NM_030632.3(ASXL3):c.1783C>T:p.Gln595Ter	coding	Pathogenic
18	33739212	C	G	C33739212G	ASXL3	NM_030632.3(ASXL3):c.1808C>G:p.Ser603Ter	coding	Pathogenic
18	33739861	T	C	T33739861C	ASXL3	NM_030632.3(ASXL3):c.2457T>C:p.Ala819=	coding	Benign
18	33739915	C	T	C33739915T	ASXL3	NM_030632.3(ASXL3):c.2511C>T:p.Thr837=	coding	Benign
18	33740444	G	A	G33740444A	ASXL3	NM_030632.3(ASXL3):c.3039+1G>A	coding	Pathogenic
18	33740445	T	G	T33740445G	ASXL3	NM_030632.3(ASXL3):c.3039+2T>G	noncoding	Pathogenic
18	33742954	C	T	C33742954T	ASXL3	NM_030632.3(ASXL3):c.3106C>T:p.Arg1036Ter	coding	Pathogenic
18	33743212	C	T	C33743212T	ASXL3	NM_030632.3(ASXL3):c.3364C>T:p.Gln1122Ter	coding	Pathogenic
18	33743312	C	A	C33743312A	ASXL3	NM_030632.3(ASXL3):c.3464C>A:p.Ser1155Ter	coding	Pathogenic
18	33743812	C	T	C33743812T	ASXL3	NM_030632.3(ASXL3):c.3964C>T:p.Gln1322Ter	coding	Pathogenic
18	33743992	C	T	C33743992T	ASXL3	NM_030632.3(ASXL3):c.4144C>T:p.Gln1382Ter	coding	Pathogenic
18	33744170	C	G	C33744170G	ASXL3	NM_030632.3(ASXL3):c.4322C>G:p.Ser1441Ter	coding	Pathogenic
18	33744178	C	T	C33744178T	ASXL3	NM_030632.3(ASXL3):c.4330C>T:p.Arg1444Ter	coding	Pathogenic/Likely_pathogenic
18	33744208	C	T	C33744208T	ASXL3	NM_030632.3(ASXL3):c.4360C>T:p.Gln1454Ter	coding	Pathogenic
18	33744247	C	T	C33744247T	ASXL3	NM_030632.3(ASXL3):c.4399C>T:p.Arg1467Ter	coding	Pathogenic
18	33744850	G	A	G33744850A	ASXL3	NM_030632.3(ASXL3):c.5002G>A:p.Val1668Met	coding	Benign
18	33745021	G	A	G33745021A	ASXL3	NM_030632.3(ASXL3):c.5173G>A:p.Asp1725Asn	coding	Benign
18	33746048	T	G	T33746048G	ASXL3	NM_030632.3(ASXL3):c.6200T>G:p.Leu2067Arg	coding	Benign/Likely_benign
18	34710406	G	C	G34710406C	DTNA	NM_001390.4(DTNA):c.-45571G>C	noncoding	Benign
18	34755951	A	G	A34755951G	DTNA	NM_001390.4(DTNA):c.-26A>G	noncoding	Benign
18	34766039	A	G	A34766039G	DTNA	NM_001390.4(DTNA):c.146A>G:p.Asn49Ser	coding	Pathogenic
18	34766185	G	T	G34766185T	DTNA	NM_001390.4(DTNA):c.148+144G>T	noncoding	Benign
18	34793752	A	T	A34793752T	DTNA	NM_001390.4(DTNA):c.149-285A>T	noncoding	Benign
18	34793772	A	C	A34793772C	DTNA	NM_001390.4(DTNA):c.149-265A>C	noncoding	Benign
18	34793856	T	C	T34793856C	DTNA	NM_001390.4(DTNA):c.149-181T>C	noncoding	Benign
18	34793909	T	C	T34793909C	DTNA	NM_001390.4(DTNA):c.149-128T>C	noncoding	Benign
18	34794098	G	A	G34794098A	DTNA	NM_001390.4(DTNA):c.210G>A:p.Leu70=	coding	Benign
18	34794119	C	T	C34794119T	DTNA	NM_001390.4(DTNA):c.231C>T:p.Asn77=	coding	Benign
18	34794131	A	G	A34794131G	DTNA	NM_001390.4(DTNA):c.243A>G:p.Leu81=	coding	Benign
18	34794250	C	T	C34794250T	DTNA	NM_001390.4(DTNA):c.362C>T:p.Pro121Leu	coding	Pathogenic
18	34794379	A	G	A34794379G	DTNA	NM_001390.4(DTNA):c.362+129A>G	noncoding	Benign
18	34806021	A	G	A34806021G	DTNA	NM_001390.4(DTNA):c.363-198A>G	noncoding	Benign
18	34806117	A	G	A34806117G	DTNA	NM_001390.4(DTNA):c.363-102A>G	noncoding	Benign
18	34806137	C	A	C34806137A	DTNA	NM_001390.4(DTNA):c.363-82C>A	noncoding	Benign
18	34806161	T	C	T34806161C	DTNA	NM_001390.4(DTNA):c.363-58T>C	noncoding	Benign
18	34806376	T	C	T34806376C	DTNA	NM_001390.4(DTNA):c.448+72T>C	noncoding	Benign
18	34806542	C	A	C34806542A	DTNA	NM_001390.4(DTNA):c.448+238C>A	noncoding	Benign
18	34812047	G	T	G34812047T	DTNA	NM_001390.4(DTNA):c.537G>T:p.Thr179=	coding	Benign
18	34812128	T	C	T34812128C	DTNA	NM_001390.4(DTNA):c.603+15T>C	noncoding	Benign/Likely_benign
18	34812250	G	A	G34812250A	DTNA	NM_001390.4(DTNA):c.603+137G>A	noncoding	Benign
18	34812280	C	T	C34812280T	DTNA	NM_001390.4(DTNA):c.603+167C>T	noncoding	Benign
18	34812281	A	G	A34812281G	DTNA	NM_001390.4(DTNA):c.603+168A>G	noncoding	Benign
18	34815895	G	T	G34815895T	DTNA	NM_001390.4(DTNA):c.604-14G>T	noncoding	Benign
18	34815980	G	A	G34815980A	DTNA	NM_001390.4(DTNA):c.675G>A:p.Leu225=	coding	Benign/Likely_benign
18	34816274	G	A	G34816274A	DTNA	NM_001390.4(DTNA):c.709+260G>A	noncoding	Benign
18	34817620	C	T	C34817620T	DTNA	NM_001390.4(DTNA):c.710-544C>T	noncoding	Benign
18	34820552	G	T	G34820552T	DTNA	NM_001390.4(DTNA):c.877-239G>T	noncoding	Benign
18	34820622	G	T	G34820622T	DTNA	NM_001390.4(DTNA):c.877-169G>T	noncoding	Benign
18	34820847	C	T	C34820847T	DTNA	NM_001390.4(DTNA):c.933C>T:p.Ser311=	coding	Benign
18	34820913	C	T	C34820913T	DTNA	NM_001390.4(DTNA):c.999C>T:p.Ile333=	coding	Benign
18	34825107	C	T	C34825107T	DTNA	NM_001390.4(DTNA):c.1002-160C>T	noncoding	Benign
18	34827461	A	G	A34827461G	DTNA	NM_001390.4(DTNA):c.1011-132A>G	noncoding	Benign
18	34827587	T	C	T34827587C	DTNA	NM_001390.4(DTNA):c.1011-6T>C	noncoding	Benign/Likely_benign
18	34827926	A	G	A34827926G	DTNA	NM_001390.4(DTNA):c.1094+250A>G	noncoding	Benign
18	34828936	T	C	T34828936C	DTNA	NM_001390.4(DTNA):c.1094+1260T>C	noncoding	Benign
18	34829460	G	A	G34829460A	DTNA	NM_001390.4(DTNA):c.1094+1784G>A	coding	Benign
18	34829607	T	C	T34829607C	DTNA	NM_001390.4(DTNA):c.1094+1931T>C	noncoding	Benign
18	34838086	T	C	T34838086C	DTNA	NM_001390.4(DTNA):c.1095-8T>C	noncoding	Benign/Likely_benign
18	34838222	T	A	T34838222A	DTNA	NM_001390.4(DTNA):c.1172+51T>A	noncoding	Benign
18	34838225	A	G	A34838225G	DTNA	NM_001390.4(DTNA):c.1172+54A>G	noncoding	Benign
18	34838301	G	A	G34838301A	DTNA	NM_001390.4(DTNA):c.1172+130G>A	noncoding	Benign
18	34838670	T	A	T34838670A	DTNA	NM_001390.4(DTNA):c.1173-75T>A	noncoding	Benign
18	34851812	T	C	T34851812C	DTNA	NM_001390.4(DTNA):c.1354-19T>C	noncoding	Benign
18	34851834	C	A	C34851834A	DTNA	NM_001390.4(DTNA):c.1357C>A:p.Pro453Thr	coding	Benign
18	34851850	G	C	G34851850C	DTNA	NM_001390.4(DTNA):c.1373G>C:p.Ser458Thr	coding	Benign/Likely_benign
18	34851881	G	A	G34851881A	DTNA	NM_001390.4(DTNA):c.1404G>A:p.Ala468=	coding	Benign/Likely_benign
18	34851946	T	C	T34851946C	DTNA	NM_001390.4(DTNA):c.1451+18T>C	noncoding	Benign
18	34852153	A	G	A34852153G	DTNA	NM_001390.4(DTNA):c.1451+225A>G	noncoding	Benign
18	34864076	G	A	G34864076A	DTNA	NM_001390.4(DTNA):c.1662+14G>A	noncoding	Benign
18	34864202	A	G	A34864202G	DTNA	NM_001390.4(DTNA):c.1662+140A>G	noncoding	Benign
18	34864221	C	T	C34864221T	DTNA	NM_001390.4(DTNA):c.1662+159C>T	noncoding	Benign
18	34866333	C	T	C34866333T	DTNA	NM_001390.4(DTNA):c.1662+2271C>T	coding	Benign
18	34866335	A	G	A34866335G	DTNA	NM_001390.4(DTNA):c.1662+2273A>G	coding	Benign
18	34866471	C	T	C34866471T	DTNA	NM_001390.4(DTNA):c.1662+2409C>T	coding	Benign
18	34875229	G	A	G34875229A	DTNA	NM_001390.4(DTNA):c.1663-10G>A	noncoding	Benign/Likely_benign
18	34875229	G	T	G34875229T	DTNA	NM_001390.4(DTNA):c.1663-10G>T	noncoding	Benign/Likely_benign
18	34875316	G	A	G34875316A	DTNA	NM_001390.4(DTNA):c.1740G>A:p.Ala580=	coding	Benign
18	34875370	G	A	G34875370A	DTNA	NM_001390.4(DTNA):c.1794G>A:p.Gly598=	coding	Benign/Likely_benign
18	34875406	G	A	G34875406A	DTNA	NM_001390.4(DTNA):c.1822+8G>A	noncoding	Benign
18	34875415	T	C	T34875415C	DTNA	NM_001390.4(DTNA):c.1822+17T>C	noncoding	Benign
18	34877473	A	T	A34877473T	DTNA	NM_001390.4(DTNA):c.1823-246A>T	noncoding	Benign
18	34877815	T	C	T34877815C	DTNA	NM_001390.4(DTNA):c.1912+7T>C	noncoding	Benign
18	34879413	A	G	A34879413G	DTNA	NM_001390.4(DTNA):c.1913-138A>G	noncoding	Benign
18	34879733	G	A	G34879733A	DTNA	NM_001390.4(DTNA):c.2081+14G>A	noncoding	Benign
18	34879740	A	G	A34879740G	DTNA	NM_001390.4(DTNA):c.2081+21A>G	noncoding	Benign
18	34881932	A	G	A34881932G	DTNA	NM_001390.4(DTNA):c.2082-137A>G	noncoding	Benign
18	34884981	G	C	G34884981C	DTNA	NM_001390.4(DTNA):c.*31+205G>C	noncoding	Benign
18	34884981	G	T	G34884981T	DTNA	NM_001390.4(DTNA):c.*31+205G>T	noncoding	Benign
18	34890327	G	A	G34890327A	DTNA	NM_001390.4(DTNA):c.*2593G>A	coding	Benign
18	35070275	A	G	A35070275G	MAPRE2	NM_014268.4(MAPRE2):c.203A>G:p.Asn68Ser	coding	Pathogenic
18	35070330	A	T	A35070330T	MAPRE2	NM_014268.4(MAPRE2):c.250+8A>T	noncoding	Benign
18	35097455	A	G	A35097455G	MAPRE2	NM_014268.4(MAPRE2):c.260A>G:p.Tyr87Cys	coding	Pathogenic
18	35101976	C	T	C35101976T	MAPRE2	NM_014268.4(MAPRE2):c.427C>T:p.Arg143Cys	coding	Pathogenic
18	35102003	C	T	C35102003T	MAPRE2	NM_014268.4(MAPRE2):c.454C>T:p.Gln152Ter	coding	Pathogenic
18	35132061	C	T	C35132061T	MAPRE2	NM_014268.4(MAPRE2):c.780C>T:p.Gly260=	coding	Benign
18	35132127	C	T	C35132127T	MAPRE2	NM_014268.4(MAPRE2):c.846C>T:p.His282=	coding	Benign
18	35140351	G	A	G35140351A	MAPRE2	NM_014268.4(MAPRE2):c.966G>A:p.Pro322=	coding	Benign
18	35468653	G	A	G35468653A	INO80C	NM_194281.4(INO80C):c.537C>T:p.Thr179=	coding	Benign
18	35478355	A	G	A35478355G	INO80C	NM_194281.4(INO80C):c.380-6T>C	noncoding	Benign
18	35703550	C	T	C35703550T	GALNT1	NM_020474.3(GALNT1):c.1440C>T:p.Asp480=	coding	Benign
18	36139409	G	A	G36139409A	ELP2	NM_018255.4(ELP2):c.523+537G>A	noncoding	Benign
18	36142309	A	G	A36142309G	ELP2	NM_018255.4(ELP2):c.617A>G:p.His206Arg	coding	Pathogenic/Likely_pathogenic
18	36146372	A	T	A36146372T	ELP2	NM_018255.4(ELP2):c.1116A>T:p.Thr372=	coding	Benign
18	36156575	G	T	G36156575T	ELP2	NM_018255.4(ELP2):c.1385G>T:p.Arg462Leu	coding	Pathogenic
18	36158842	G	C	G36158842C	ELP2	NM_018255.4(ELP2):c.1472G>C:p.Ser491Thr	coding	Benign
18	36159772	G	C	G36159772C	ELP2	NM_018255.4(ELP2):c.1572G>C:p.Leu524=	coding	Benign
18	36159822	T	C	T36159822C	ELP2	NM_018255.4(ELP2):c.1622T>C:p.Ile541Thr	coding	Benign
18	36159827	A	C	A36159827C	ELP2	NM_018255.4(ELP2):c.1627A>C:p.Thr543Pro	coding	Benign
18	36159984	C	T	C36159984T	ELP2	NM_018255.4(ELP2):c.1657C>T:p.Gln553Ter	coding	Pathogenic
18	36159990	A	C	A36159990C	ELP2	NM_018255.4(ELP2):c.1663A>C:p.Thr555Pro	coding	Pathogenic
18	36164502	A	G	A36164502G	ELP2	NM_018255.4(ELP2):c.1789A>G:p.Ile597Val	coding	Benign
18	36171049	A	G	A36171049G	ELP2	NM_018255.4(ELP2):c.2213A>G:p.Tyr738Cys	coding	Benign
18	36171050	C	T	C36171050T	ELP2	NM_018255.4(ELP2):c.2214C>T:p.Tyr738=	coding	Benign
18	36171085	G	A	G36171085A	ELP2	NM_018255.4(ELP2):c.2249G>A:p.Cys750Tyr	coding	Benign
18	36195283	G	C	G36195283C	MOCOS	NM_017947.4(MOCOS):c.169G>C:p.Ala57Pro	coding	Pathogenic
18	36199692	G	A	G36199692A	MOCOS	NM_017947.4(MOCOS):c.309G>A:p.Ala103=	coding	Benign
18	36203152	G	A	G36203152A	MOCOS	NM_017947.4(MOCOS):c.981G>A:p.Ala327=	coding	Benign
18	36205120	G	A	G36205120A	MOCOS	NM_017947.4(MOCOS):c.1062G>A:p.Gln354=	coding	Benign
18	36213456	A	G	A36213456G	MOCOS	NM_017947.4(MOCOS):c.1309A>G:p.Asn437Asp	coding	Benign
18	36213473	G	A	G36213473A	MOCOS	NM_017947.4(MOCOS):c.1326G>A:p.Lys442=	coding	Benign
18	36215605	G	A	G36215605A	MOCOS	NM_017947.4(MOCOS):c.1425G>A:p.Leu475=	coding	Benign
18	36215645	C	T	C36215645T	MOCOS	NM_017947.4(MOCOS):c.1465C>T:p.Arg489Cys	coding	Benign
18	36215719	A	G	A36215719G	MOCOS	NM_017947.4(MOCOS):c.1539A>G:p.Ala513=	coding	Benign
18	36215904	T	C	T36215904C	MOCOS	NM_017947.4(MOCOS):c.1724T>C:p.Leu575Pro	coding	Benign
18	36248953	A	G	A36248953G	MOCOS	NM_017947.4(MOCOS):c.1992A>G:p.Glu664=	coding	Benign
18	36260042	A	G	A36260042G	MOCOS	NM_017947.4(MOCOS):c.2276A>G:p.Glu759Gly	coding	Benign
18	36260092	C	T	C36260092T	MOCOS	NM_017947.4(MOCOS):c.2326C>T:p.Arg776Cys	coding	Pathogenic
18	36268617	G	A	G36268617A	MOCOS	NM_017947.4(MOCOS):c.2599G>A:p.Val867Met	coding	Benign
18	36611946	T	C	T36611946C	FHOD3	NM_025135.5(FHOD3):c.814-6T>C	noncoding	Benign
18	36612056	G	A	G36612056A	FHOD3	NM_025135.5(FHOD3):c.918G>A:p.Gly306=	coding	Benign
18	36625558	C	A	C36625558A	FHOD3	NM_025135.5(FHOD3):c.1005C>A:p.Pro335=	coding	Benign
18	36693287	C	T	C36693287T	FHOD3	NM_025135.5(FHOD3):c.1575C>T:p.Ala525=	coding	Benign
18	36693351	C	T	C36693351T	FHOD3	NM_025135.5(FHOD3):c.1639C>T:p.Pro547Ser	coding	Benign
18	36693395	C	A	C36693395A	FHOD3	NM_025135.5(FHOD3):c.1683C>A:p.Ser561=	coding	Benign
18	36718579	G	A	G36718579A	FHOD3	NM_025135.5(FHOD3):c.2756G>A:p.Arg919Gln	coding	Benign
18	36747019	G	A	G36747019A	FHOD3	NM_025135.5(FHOD3):c.3591G>A:p.Lys1197=	coding	Benign
18	36829157	C	T	C36829157T	KIAA1328	NM_020776.3(KIAA1328):c.19C>T:p.Pro7Ser	coding	Benign
18	36885549	T	A	T36885549A	KIAA1328	NM_020776.3(KIAA1328):c.333-8T>A	noncoding	Benign
18	37264705	C	T	C37264705T	CELF4	NM_020180.4(CELF4):c.1218G>A:p.Pro406=	coding	Benign
18	37266555	G	A	G37266555A	CELF4	NM_020180.4(CELF4):c.1143C>T:p.Ala381=	coding	Benign
18	37321870	C	T	C37321870T	CELF4	NM_020180.4(CELF4):c.381G>A:p.Pro127=	coding	Benign
18	42004523	G	A	G42004523A	PIK3C3	NM_002647.4(PIK3C3):c.1152G>A:p.Leu384=	coding	Benign
18	42067450	G	A	G42067450A	PIK3C3	NM_002647.4(PIK3C3):c.2586G>A:p.Leu862=	coding	Benign
18	43273924	C	T	C43273924T	SYT4	NM_020783.4(SYT4):c.505G>A:p.Ala169Thr	coding	Benign
18	44701487	G	A	G44701487A	SETBP1	NM_015559.3(SETBP1):c.141G>A:p.Gly47=	coding	Benign
18	44701611	C	T	C44701611T	SETBP1	NM_015559.3(SETBP1):c.265C>T:p.Gln89Ter	coding	Pathogenic
18	44950006	G	A	G44950006A	SETBP1	NM_015559.3(SETBP1):c.666G>A:p.Trp222Ter	coding	Pathogenic
18	44950031	G	C	G44950031C	SETBP1	NM_015559.3(SETBP1):c.691G>C:p.Val231Leu	coding	Benign
18	44950161	G	A	G44950161A	SETBP1	NM_015559.3(SETBP1):c.821G>A:p.Trp274Ter	coding	Pathogenic
18	44950331	G	T	G44950331T	SETBP1	NM_015559.3(SETBP1):c.991G>T:p.Val331Leu	coding	Benign
18	44950498	C	T	C44950498T	SETBP1	NM_015559.3(SETBP1):c.1158C>T:p.Asn386=	coding	Benign
18	44950510	C	T	C44950510T	SETBP1	NM_015559.3(SETBP1):c.1170C>T:p.Ala390=	coding	Benign
18	44950530	C	A	C44950530A	SETBP1	NM_015559.3(SETBP1):c.1190C>A:p.Ser397Ter	coding	Pathogenic
18	44950588	T	C	T44950588C	SETBP1	NM_015559.3(SETBP1):c.1248T>C:p.His416=	coding	Benign
18	44950604	C	T	C44950604T	SETBP1	NM_015559.3(SETBP1):c.1264C>T:p.Gln422Ter	coding	Pathogenic
18	44950823	T	A	T44950823A	SETBP1	NM_015559.3(SETBP1):c.1483T>A:p.Ser495Thr	coding	Benign/Likely_benign
18	44950831	G	A	G44950831A	SETBP1	NM_015559.3(SETBP1):c.1491G>A:p.Pro497=	coding	Benign
18	44950921	T	G	T44950921G	SETBP1	NM_015559.3(SETBP1):c.1581T>G:p.Ala527=	coding	Benign
18	44950936	G	A	G44950936A	SETBP1	NM_015559.3(SETBP1):c.1596G>A:p.Trp532Ter	coding	Pathogenic
18	44950970	C	T	C44950970T	SETBP1	NM_015559.3(SETBP1):c.1630C>T:p.Arg544Ter	coding	Pathogenic
18	44950973	G	T	G44950973T	SETBP1	NM_015559.3(SETBP1):c.1633G>T:p.Glu545Ter	coding	Pathogenic
18	44951105	C	T	C44951105T	SETBP1	NM_015559.3(SETBP1):c.1765C>T:p.Arg589Ter	coding	Pathogenic
18	44951213	C	T	C44951213T	SETBP1	NM_015559.3(SETBP1):c.1873C>T:p.Arg625Ter	coding	Pathogenic
18	44951216	C	T	C44951216T	SETBP1	NM_015559.3(SETBP1):c.1876C>T:p.Arg626Ter	coding	Pathogenic
18	44951219	C	T	C44951219T	SETBP1	NM_015559.3(SETBP1):c.1879C>T:p.Arg627Cys	coding	Benign
18	44951765	C	T	C44951765T	SETBP1	NM_015559.3(SETBP1):c.2425C>T:p.Gln809Ter	coding	Pathogenic
18	44951911	C	T	C44951911T	SETBP1	NM_015559.3(SETBP1):c.2571C>T:p.Ser857=	coding	Benign
18	44951942	G	A	G44951942A	SETBP1	NM_015559.3(SETBP1):c.2602G>A:p.Asp868Asn	coding	Pathogenic
18	44951943	A	C	A44951943C	SETBP1	NM_015559.3(SETBP1):c.2603A>C:p.Asp868Ala	coding	Pathogenic
18	44951947	C	T	C44951947T	SETBP1	NM_015559.3(SETBP1):c.2607C>T:p.Ser869=	coding	Benign
18	44951948	G	A	G44951948A	SETBP1	NM_015559.3(SETBP1):c.2608G>A:p.Gly870Ser	coding	Pathogenic
18	44951949	G	A	G44951949A	SETBP1	NM_015559.3(SETBP1):c.2609G>A:p.Gly870Asp	coding	Pathogenic
18	44951952	T	G	T44951952G	SETBP1	NM_015559.3(SETBP1):c.2612T>G:p.Ile871Ser	coding	Pathogenic
18	44951961	A	G	A44951961G	SETBP1	NM_015559.3(SETBP1):c.2621A>G:p.Asp874Gly	coding	Pathogenic
18	44952372	C	G	C44952372G	SETBP1	NM_015559.3(SETBP1):c.3032C>G:p.Ser1011Ter	coding	Pathogenic
18	44952538	C	A	C44952538A	SETBP1	NM_015559.3(SETBP1):c.3198C>A:p.Tyr1066Ter	coding	Pathogenic
18	44952577	T	C	T44952577C	SETBP1	NM_015559.3(SETBP1):c.3237T>C:p.Leu1079=	coding	Benign
18	44952641	G	A	G44952641A	SETBP1	NM_015559.3(SETBP1):c.3301G>A:p.Val1101Ile	coding	Benign
18	44952728	C	A	C44952728A	SETBP1	NM_015559.3(SETBP1):c.3388C>A:p.Pro1130Thr	coding	Benign
18	44952916	C	T	C44952916T	SETBP1	NM_015559.3(SETBP1):c.3576C>T:p.Ser1192=	coding	Benign
18	44952933	C	T	C44952933T	SETBP1	NM_015559.3(SETBP1):c.3593C>T:p.Pro1198Leu	coding	Benign
18	44952958	T	C	T44952958C	SETBP1	NM_015559.3(SETBP1):c.3618T>C:p.His1206=	coding	Benign
18	44953119	C	T	C44953119T	SETBP1	NM_015559.3(SETBP1):c.3779C>T:p.Thr1260Met	coding	Benign
18	44953165	A	G	A44953165G	SETBP1	NM_015559.3(SETBP1):c.3825A>G:p.Ser1275=	coding	Benign
18	44953174	G	C	G44953174C	SETBP1	NM_015559.3(SETBP1):c.3834G>C:p.Leu1278=	coding	Benign
18	44953302	G	A	G44953302A	SETBP1	NM_015559.3(SETBP1):c.3962G>A:p.Arg1321His	coding	Benign/Likely_benign
18	44953350	T	A	T44953350A	SETBP1	NM_015559.3(SETBP1):c.4000+10T>A	noncoding	Benign
18	45038613	G	C	G45038613C	SETBP1	NM_015559.3(SETBP1):c.4129G>C:p.Val1377Leu	coding	Benign
18	45038615	G	A	G45038615A	SETBP1	NM_015559.3(SETBP1):c.4131G>A:p.Val1377=	coding	Benign
18	45063141	C	A	C45063141A	SETBP1	NM_015559.3(SETBP1):c.4234C>A:p.Arg1412=	coding	Benign
18	45063547	C	A	C45063547A	SETBP1	NM_015559.3(SETBP1):c.4640C>A:p.Thr1547Asn	coding	Benign/Likely_benign
18	45644160	G	A	G45644160A	SLC14A2	NM_007163.4(SLC14A2):c.1351G>A:p.Gly451Arg	coding	Benign
18	45730348	G	A	G45730348A	SLC14A1	NM_015865.7(SLC14A1):c.28G>A:p.Val10Met	coding	Benign
18	45731089	G	A	G45731089A	SLC14A1	NM_015865.7(SLC14A1):c.226G>A:p.Val76Ile	coding	Benign
18	45731166	G	A	G45731166A	SLC14A1	NM_015865.7(SLC14A1):c.303G>A:p.Val101=	coding	Benign
18	45734334	T	C	T45734334C	SLC14A1	NM_015865.7(SLC14A1):c.402T>C:p.Ala134=	coding	Benign
18	45736496	T	C	T45736496C	SLC14A1	NM_015865.7(SLC14A1):c.511T>C:p.Trp171Arg	coding	Benign
18	45736649	G	T	G45736649T	SLC14A1	NM_015865.7(SLC14A1):c.663+1G>T	coding	Pathogenic
18	45739554	G	A	G45739554A	SLC14A1	NM_015865.7(SLC14A1):c.838G>A:p.Asp280Asn	coding	Benign
18	45739587	T	C	T45739587C	SLC14A1	NM_015865.7(SLC14A1):c.871T>C:p.Ser291Pro	coding	Pathogenic
18	45852660	C	T	C45852660T	EPG5	NM_020964.3(EPG5):c.7558-11G>A	noncoding	Benign
18	45855558	A	G	A45855558G	EPG5	NM_020964.3(EPG5):c.7557+15T>C	noncoding	Benign
18	45855683	G	A	G45855683A	EPG5	NM_020964.3(EPG5):c.7447C>T:p.Arg2483Ter	coding	Pathogenic/Likely_pathogenic
18	45857927	G	A	G45857927A	EPG5	NM_020964.3(EPG5):c.7368C>T:p.Leu2456=	coding	Benign
18	45857962	G	A	G45857962A	EPG5	NM_020964.3(EPG5):c.7333C>T:p.Arg2445Ter	coding	Pathogenic/Likely_pathogenic
18	45858636	C	A	C45858636A	EPG5	NM_020964.3(EPG5):c.7156G>T:p.Glu2386Ter	coding	Pathogenic
18	45860174	G	A	G45860174A	EPG5	NM_020964.3(EPG5):c.6939C>T:p.Cys2313=	coding	Benign
18	45860228	C	T	C45860228T	EPG5	NM_020964.3(EPG5):c.6885G>A:p.Trp2295Ter	coding	Pathogenic
18	45866897	C	T	C45866897T	EPG5	NM_020964.3(EPG5):c.6522G>A:p.Pro2174=	coding	Benign
18	45866903	G	A	G45866903A	EPG5	NM_020964.3(EPG5):c.6516C>T:p.Tyr2172=	coding	Benign
18	45867742	G	A	G45867742A	EPG5	NM_020964.3(EPG5):c.6232C>T:p.Arg2078Ter	coding	Pathogenic
18	45870630	C	T	C45870630T	EPG5	NM_020964.3(EPG5):c.6162G>A:p.Thr2054=	coding	Benign
18	45870631	G	A	G45870631A	EPG5	NM_020964.3(EPG5):c.6161C>T:p.Thr2054Met	coding	Benign/Likely_benign
18	45870708	C	T	C45870708T	EPG5	NM_020964.3(EPG5):c.6084G>A:p.Trp2028Ter	coding	Pathogenic/Likely_pathogenic
18	45870714	G	T	G45870714T	EPG5	NM_020964.3(EPG5):c.6078C>A:p.Ala2026=	coding	Benign
18	45876331	C	T	C45876331T	EPG5	NM_020964.3(EPG5):c.5954G>A:p.Arg1985Gln	coding	Benign
18	45878380	C	A	C45878380A	EPG5	NM_020964.3(EPG5):c.5938G>T:p.Glu1980Ter	coding	Pathogenic
18	45878450	T	C	T45878450C	EPG5	NM_020964.3(EPG5):c.5870-2A>G	noncoding	Pathogenic
18	45879182	A	G	A45879182G	EPG5	NM_020964.3(EPG5):c.5700T>C:p.Phe1900=	coding	Benign
18	45880089	A	G	A45880089G	EPG5	NM_020964.3(EPG5):c.5653T>C:p.Leu1885=	coding	Benign
18	45880124	T	A	T45880124A	EPG5	NM_020964.3(EPG5):c.5618A>T:p.Glu1873Val	coding	Benign
18	45880126	G	A	G45880126A	EPG5	NM_020964.3(EPG5):c.5616C>T:p.Thr1872=	coding	Benign
18	45880151	C	T	C45880151T	EPG5	NM_020964.3(EPG5):c.5591G>A:p.Ser1864Asn	coding	Benign
18	45880158	C	T	C45880158T	EPG5	NM_020964.3(EPG5):c.5584G>A:p.Ala1862Thr	coding	Benign
18	45880159	G	A	G45880159A	EPG5	NM_020964.3(EPG5):c.5583C>T:p.Cys1861=	coding	Benign
18	45882484	C	T	C45882484T	EPG5	NM_020964.3(EPG5):c.5308G>A:p.Asp1770Asn	coding	Benign
18	45884692	G	A	G45884692A	EPG5	NM_020964.3(EPG5):c.5229C>T:p.Phe1743=	coding	Benign
18	45887790	T	C	T45887790C	EPG5	NM_020964.3(EPG5):c.5070A>G:p.Thr1690=	coding	Benign
18	45901013	C	T	C45901013T	EPG5	NM_020964.3(EPG5):c.4629G>A:p.Leu1543=	coding	Benign
18	45901054	G	A	G45901054A	EPG5	NM_020964.3(EPG5):c.4588C>T:p.Gln1530Ter	coding	Pathogenic
18	45901058	C	G	C45901058G	EPG5	NM_020964.3(EPG5):c.4584G>C:p.Leu1528Phe	coding	Benign
18	45901101	G	A	G45901101A	EPG5	NM_020964.3(EPG5):c.4541C>T:p.Pro1514Leu	coding	Benign
18	45901110	G	A	G45901110A	EPG5	NM_020964.3(EPG5):c.4532C>T:p.Ala1511Val	coding	Benign
18	45907960	G	A	G45907960A	EPG5	NM_020964.3(EPG5):c.4327C>T:p.Gln1443Ter	coding	Pathogenic
18	45910592	T	C	T45910592C	EPG5	NM_020964.3(EPG5):c.4134A>G:p.Glu1378=	coding	Benign
18	45910637	G	A	G45910637A	EPG5	NM_020964.3(EPG5):c.4089C>T:p.His1363=	coding	Benign
18	45913824	C	T	C45913824T	EPG5	NM_020964.3(EPG5):c.3698G>A:p.Trp1233Ter	coding	Pathogenic
18	45916098	T	C	T45916098C	EPG5	NM_020964.3(EPG5):c.3493A>G:p.Ile1165Val	coding	Benign
18	45916110	G	A	G45916110A	EPG5	NM_020964.3(EPG5):c.3481C>T:p.Arg1161Ter	coding	Pathogenic
18	45916144	C	T	C45916144T	EPG5	NM_020964.3(EPG5):c.3447G>A:p.Trp1149Ter	coding	Pathogenic
18	45916155	A	G	A45916155G	EPG5	NM_020964.3(EPG5):c.3436T>C:p.Leu1146=	coding	Benign
18	45916200	T	C	T45916200C	EPG5	NM_020964.3(EPG5):c.3391A>G:p.Ile1131Val	coding	Benign
18	45916543	G	A	G45916543A	EPG5	NM_020964.3(EPG5):c.3279C>T:p.Ser1093=	coding	Benign
18	45916574	G	A	G45916574A	EPG5	NM_020964.3(EPG5):c.3248C>T:p.Ser1083Leu	coding	Benign
18	45917745	A	G	A45917745G	EPG5	NM_020964.3(EPG5):c.3173T>C:p.Val1058Ala	coding	Benign
18	45922528	A	C	A45922528C	EPG5	NM_020964.3(EPG5):c.2911T>G:p.Leu971Val	coding	Benign/Likely_benign
18	45925740	G	A	G45925740A	EPG5	NM_020964.3(EPG5):c.2716C>T:p.Gln906Ter	coding	Pathogenic
18	45925881	C	A	C45925881A	EPG5	NM_020964.3(EPG5):c.2575G>T:p.Glu859Ter	coding	Pathogenic
18	45928890	C	G	C45928890G	EPG5	NM_020964.3(EPG5):c.2532G>C:p.Glu844Asp	coding	Benign
18	45930829	G	A	G45930829A	EPG5	NM_020964.3(EPG5):c.2259C>T:p.Asp753=	coding	Benign
18	45934799	G	A	G45934799A	EPG5	NM_020964.3(EPG5):c.2257+10C>T	noncoding	Benign
18	45934830	G	A	G45934830A	EPG5	NM_020964.3(EPG5):c.2236C>T:p.Gln746Ter	coding	Pathogenic
18	45943180	G	A	G45943180A	EPG5	NM_020964.3(EPG5):c.1924C>T:p.Arg642Ter	coding	Pathogenic
18	45948496	C	T	C45948496T	EPG5	NM_020964.3(EPG5):c.1571+7G>A	noncoding	Benign
18	45948573	T	A	T45948573A	EPG5	NM_020964.3(EPG5):c.1501A>T:p.Lys501Ter	coding	Pathogenic
18	45949483	C	A	C45949483A	EPG5	NM_020964.3(EPG5):c.1497+1G>T	noncoding	Pathogenic
18	45949520	G	A	G45949520A	EPG5	NM_020964.3(EPG5):c.1461C>T:p.Pro487=	coding	Benign
18	45949582	G	A	G45949582A	EPG5	NM_020964.3(EPG5):c.1399C>T:p.Leu467=	coding	Benign
18	45951110	G	A	G45951110A	EPG5	NM_020964.3(EPG5):c.1381C>T:p.Gln461Ter	coding	Pathogenic
18	45951220	C	T	C45951220T	EPG5	NM_020964.3(EPG5):c.1271G>A:p.Ser424Asn	coding	Benign
18	45951237	C	T	C45951237T	EPG5	NM_020964.3(EPG5):c.1254G>A:p.Ala418=	coding	Benign
18	45951239	C	T	C45951239T	EPG5	NM_020964.3(EPG5):c.1253-1G>A	coding	Pathogenic
18	45952399	C	A	C45952399A	EPG5	NM_020964.3(EPG5):c.1252+1G>T	noncoding	Pathogenic
18	45954507	G	A	G45954507A	EPG5	NM_020964.3(EPG5):c.895C>T:p.Arg299Ter	coding	Pathogenic
18	45954602	G	A	G45954602A	EPG5	NM_020964.3(EPG5):c.800C>T:p.Ser267Leu	coding	Benign/Likely_benign
18	45954622	T	C	T45954622C	EPG5	NM_020964.3(EPG5):c.780A>G:p.Leu260=	coding	Benign
18	45954630	C	A	C45954630A	EPG5	NM_020964.3(EPG5):c.772G>T:p.Glu258Ter	coding	Pathogenic
18	45954662	G	A	G45954662A	EPG5	NM_020964.3(EPG5):c.740C>T:p.Pro247Leu	coding	Benign
18	45954858	T	C	T45954858C	EPG5	NM_020964.3(EPG5):c.544A>G:p.Lys182Glu	coding	Benign
18	45954978	C	A	C45954978A	EPG5	NM_020964.3(EPG5):c.424G>T:p.Glu142Ter	coding	Pathogenic
18	45955139	A	C	A45955139C	EPG5	NM_020964.3(EPG5):c.263T>G:p.Leu88Ter	coding	Pathogenic
18	45955298	C	T	C45955298T	EPG5	NM_020964.3(EPG5):c.104G>A:p.Ser35Asn	coding	Benign/Likely_benign
18	45967207	G	C	G45967207C	EPG5	NM_020964.3(EPG5):c.33C>G:p.Ala11=	coding	Benign
18	45967222	C	T	C45967222T	EPG5	NM_020964.3(EPG5):c.18G>A:p.Lys6=	coding	Benign
18	46086808	T	C	T46086808C	ATP5F1A	NM_004046.6(ATP5F1A):c.1176+200A>G	noncoding	Benign
18	46086820	C	T	C46086820T	ATP5F1A	NM_004046.6(ATP5F1A):c.1176+188G>A	noncoding	Benign
18	46087199	G	A	G46087199A	ATP5F1A	NM_004046.6(ATP5F1A):c.985C>T:p.Arg329Cys	coding	Pathogenic
18	46087222	T	C	T46087222C	ATP5F1A	NM_004046.6(ATP5F1A):c.962A>G:p.Tyr321Cys	coding	Pathogenic
18	46088241	T	C	T46088241C	ATP5F1A	NM_004046.6(ATP5F1A):c.667A>G:p.Ile223Val	coding	Benign
18	46089652	T	C	T46089652C	ATP5F1A	NM_004046.6(ATP5F1A):c.564A>G:p.Pro188=	coding	Benign
18	46089821	A	G	A46089821G	ATP5F1A	NM_004046.6(ATP5F1A):c.483+2T>C	noncoding	Pathogenic
18	46090014	T	C	T46090014C	ATP5F1A	NM_004046.6(ATP5F1A):c.310-18A>G	noncoding	Benign
18	46090224	T	C	T46090224C	ATP5F1A	NM_004046.6(ATP5F1A):c.310-228A>G	noncoding	Benign
18	46091434	T	C	T46091434C	ATP5F1A	NM_004046.6(ATP5F1A):c.309+248A>G	noncoding	Benign
18	46091724	A	G	A46091724G	ATP5F1A	NM_004046.6(ATP5F1A):c.267T>C:p.Asn89=	coding	Benign/Likely_benign
18	46091855	T	C	T46091855C	ATP5F1A	NM_004046.6(ATP5F1A):c.140-4A>G	noncoding	Benign
18	46095098	C	A	C46095098A	ATP5F1A	NM_004046.6(ATP5F1A):c.94G>T:p.Ala32Ser	coding	Benign
18	46098207	C	T	C46098207T	ATP5F1A	NM_004046.6(ATP5F1A):c.25G>A:p.Ala9Thr	coding	Benign/Likely_benign
18	46098259	T	C	T46098259C	ATP5F1A	NM_004046.6(ATP5F1A):c.-28A>G	noncoding	Benign
18	46098263	C	A	C46098263A	ATP5F1A	NM_004046.6(ATP5F1A):c.-32G>T	noncoding	Benign
18	46098659	G	C	G46098659C	ATP5F1A	NM_001001937.1(ATP5F1A):c.-48-380C>G	noncoding	Benign
18	46104144	T	C	T46104144C	ATP5F1A	NM_001001937.1(ATP5F1A):c.-56A>G	noncoding	Benign
18	46105226	T	C	T46105226C	HAUS1	NM_138443.4(HAUS1):c.63T>C:p.Asp21=	coding	Benign
18	46477710	C	T	C46477710T	LOXHD1	NM_144612.6(LOXHD1):c.6398G>A:p.Arg2133His	coding	Benign
18	46483589	A	G	A46483589G	LOXHD1	NM_144612.6(LOXHD1):c.6153T>C:p.Asn2051=	coding	Benign/Likely_benign
18	46483635	G	A	G46483635A	LOXHD1	NM_144612.6(LOXHD1):c.6107C>T:p.Ala2036Val	coding	Benign
18	46485071	G	A	G46485071A	LOXHD1	NM_144612.6(LOXHD1):c.5944C>T:p.Arg1982Ter	coding	Pathogenic
18	46489032	G	A	G46489032A	LOXHD1	NM_001384474.1(LOXHD1):c.5989C>T:p.Gln1997Ter	coding	Pathogenic
18	46489058	C	T	C46489058T	LOXHD1	NM_144612.6(LOXHD1):c.5777G>A:p.Trp1926Ter	coding	Pathogenic
18	46505778	T	C	T46505778C	LOXHD1	NM_144612.6(LOXHD1):c.5692+60A>G	noncoding	Benign
18	46505848	G	A	G46505848A	LOXHD1	NM_144612.6(LOXHD1):c.5682C>T:p.His1894=	coding	Benign
18	46507572	G	A	G46507572A	LOXHD1	NM_144612.6(LOXHD1):c.5472C>T:p.Ser1824=	coding	Benign
18	46518116	C	T	C46518116T	LOXHD1	NM_144612.6(LOXHD1):c.5213+13G>A	noncoding	Benign/Likely_benign
18	46518234	C	T	C46518234T	LOXHD1	NM_001384474.1(LOXHD1):c.5294G>A:p.Trp1765Ter	coding	Pathogenic
18	46521087	C	T	C46521087T	LOXHD1	NM_144612.6(LOXHD1):c.5085+1014G>A	noncoding	Benign/Likely_benign
18	46521199	G	A	G46521199A	LOXHD1	NM_001384474.1(LOXHD1):c.5169C>T:p.Tyr1723=	coding	Benign/Likely_benign
18	46522184	G	A	G46522184A	LOXHD1	NM_144612.6(LOXHD1):c.5002C>T:p.Arg1668Ter	coding	Pathogenic/Likely_pathogenic
18	46522300	T	C	T46522300C	LOXHD1	NM_144612.6(LOXHD1):c.4886A>G:p.Tyr1629Cys	coding	Benign
18	46524474	T	C	T46524474C	LOXHD1	NM_144612.6(LOXHD1):c.4868A>G:p.Glu1623Gly	coding	Benign/Likely_benign
18	46524499	C	T	C46524499T	LOXHD1	NM_144612.6(LOXHD1):c.4843G>A:p.Gly1615Arg	coding	Pathogenic
18	46524602	C	T	C46524602T	LOXHD1	NM_144612.6(LOXHD1):c.4741-1G>A	coding	Pathogenic
18	46524687	C	T	C46524687T	LOXHD1	NM_144612.6(LOXHD1):c.4740+21G>A	noncoding	Benign
18	46524734	G	A	G46524734A	LOXHD1	NM_144612.6(LOXHD1):c.4714C>T:p.Arg1572Ter	coding	Pathogenic/Likely_pathogenic
18	46524734	G	T	G46524734T	LOXHD1	NM_144612.6(LOXHD1):c.4714C>A:p.Arg1572=	coding	Benign
18	46524768	G	A	G46524768A	LOXHD1	NM_144612.6(LOXHD1):c.4680C>T:p.Cys1560=	coding	Benign/Likely_benign
18	46524813	C	T	C46524813T	LOXHD1	NM_144612.6(LOXHD1):c.4635G>A:p.Val1545=	coding	Benign/Likely_benign
18	46524837	G	A	G46524837A	LOXHD1	NM_144612.6(LOXHD1):c.4611C>T:p.Cys1537=	coding	Benign/Likely_benign
18	46524936	G	A	G46524936A	LOXHD1	NM_144612.6(LOXHD1):c.4531-19C>T	noncoding	Benign/Likely_benign
18	46529070	T	C	T46529070C	LOXHD1	NM_144612.6(LOXHD1):c.4530+107A>G	noncoding	Benign
18	46529227	G	A	G46529227A	LOXHD1	NM_144612.6(LOXHD1):c.4480C>T:p.Arg1494Ter	coding	Pathogenic/Likely_pathogenic
18	46529333	T	C	T46529333C	LOXHD1	NM_144612.6(LOXHD1):c.4376-2A>G	noncoding	Pathogenic
18	46533255	G	A	G46533255A	LOXHD1	NM_144612.6(LOXHD1):c.4282C>T:p.Arg1428Ter	coding	Pathogenic
18	46533290	C	T	C46533290T	LOXHD1	NM_001384474.1(LOXHD1):c.4247G>A:p.Trp1416Ter	coding	Pathogenic
18	46534334	C	T	C46534334T	LOXHD1	NM_144612.6(LOXHD1):c.4212+1G>A	noncoding	Pathogenic
18	46534399	G	A	G46534399A	LOXHD1	NM_144612.6(LOXHD1):c.4148C>T:p.Thr1383Met	coding	Benign/Likely_benign
18	46534448	C	A	C46534448A	LOXHD1	NM_144612.6(LOXHD1):c.4099G>T:p.Glu1367Ter	coding	Pathogenic
18	46545308	C	T	C46545308T	LOXHD1	NM_144612.6(LOXHD1):c.3619+9G>A	noncoding	Benign/Likely_benign
18	46546946	T	C	T46546946C	LOXHD1	NM_144612.6(LOXHD1):c.3463A>G:p.Arg1155Gly	coding	Benign
18	46547059	C	T	C46547059T	LOXHD1	NM_001384474.1(LOXHD1):c.3351-1G>A	coding	Pathogenic
18	46559495	G	A	G46559495A	LOXHD1	NM_144612.6(LOXHD1):c.3169C>T:p.Arg1057Ter	coding	Pathogenic
18	46559516	C	A	C46559516A	LOXHD1	NM_144612.6(LOXHD1):c.3148G>T:p.Glu1050Ter	coding	Pathogenic
18	46560063	A	C	A46560063C	LOXHD1	NM_144612.6(LOXHD1):c.3061+20T>G	noncoding	Benign
18	46560082	C	T	C46560082T	LOXHD1	NM_144612.6(LOXHD1):c.3061+1G>A	noncoding	Pathogenic/Likely_pathogenic
18	46560083	G	A	G46560083A	LOXHD1	NM_001384474.1(LOXHD1):c.3061C>T:p.Arg1021Ter	coding	Pathogenic
18	46560274	G	T	G46560274T	LOXHD1	NM_144612.6(LOXHD1):c.2870C>A:p.Ser957Ter	coding	Pathogenic
18	46560371	G	A	G46560371A	LOXHD1	NM_144612.7(LOXHD1):c.2773C>T:p.Gln925Ter	coding	Pathogenic
18	46563083	C	T	C46563083T	LOXHD1	NM_144612.6(LOXHD1):c.2580G>A:p.Ala860=	coding	Benign/Likely_benign
18	46563190	C	T	C46563190T	LOXHD1	NM_144612.6(LOXHD1):c.2473G>A:p.Val825Met	coding	Benign
18	46566324	G	A	G46566324A	LOXHD1	NM_144612.6(LOXHD1):c.2370C>T:p.Asp790=	coding	Benign/Likely_benign
18	46566430	C	A	C46566430A	LOXHD1	NM_144612.6(LOXHD1):c.2264G>T:p.Gly755Val	coding	Benign/Likely_benign
18	46569511	G	A	G46569511A	LOXHD1	NM_144612.6(LOXHD1):c.2175C>T:p.Asn725=	coding	Benign/Likely_benign
18	46572125	G	A	G46572125A	LOXHD1	NM_144612.6(LOXHD1):c.2008C>T:p.Arg670Ter	coding	Pathogenic
18	46579687	C	T	C46579687T	LOXHD1	NM_144612.6(LOXHD1):c.1752G>A:p.Thr584=	coding	Benign
18	46592510	C	T	C46592510T	LOXHD1	NM_144612.6(LOXHD1):c.1506G>A:p.Trp502Ter	coding	Pathogenic
18	46592548	G	A	G46592548A	LOXHD1	NM_144612.6(LOXHD1):c.1468C>T:p.Arg490Ter	coding	Pathogenic
18	46593677	G	A	G46593677A	LOXHD1	NM_001384474.1(LOXHD1):c.1354C>T:p.Gln452Ter	coding	Pathogenic
18	46601230	C	T	C46601230T	LOXHD1	NM_144612.7(LOXHD1):c.1121G>A:p.Trp374Ter	coding	Pathogenic
18	46601264	C	T	C46601264T	LOXHD1	NM_144612.6(LOXHD1):c.1087G>A:p.Val363Ile	coding	Benign/Likely_benign
18	46601298	C	T	C46601298T	LOXHD1	NM_144612.6(LOXHD1):c.1053G>A:p.Leu351=	coding	Benign
18	46601457	A	C	A46601457C	LOXHD1	NM_144612.6(LOXHD1):c.894T>G:p.Tyr298Ter	coding	Pathogenic
18	46604048	G	C	G46604048C	LOXHD1	NM_144612.6(LOXHD1):c.883+58C>G	noncoding	Benign
18	46610789	C	T	C46610789T	LOXHD1	NM_144612.6(LOXHD1):c.746G>A:p.Trp249Ter	coding	Pathogenic
18	46639685	T	A	T46639685A	LOXHD1	NM_144612.6(LOXHD1):c.442A>T:p.Lys148Ter	coding	Pathogenic/Likely_pathogenic
18	46657032	A	T	A46657032T	LOXHD1	NM_144612.6(LOXHD1):c.2T>A:p.Met1Lys	coding	Benign/Likely_benign
18	46686213	C	T	C46686213T	ST8SIA5	NM_013305.6(ST8SIA5):c.530G>A:p.Arg177His	coding	Benign
18	46688859	A	C	A46688859C	ST8SIA5	NM_013305.6(ST8SIA5):c.372T>G:p.Thr124=	coding	Benign
18	46688895	G	A	G46688895A	ST8SIA5	NM_013305.6(ST8SIA5):c.336C>T:p.Asn112=	coding	Benign
18	46812480	T	C	T46812480C	PIAS2	NM_004671.5(PIAS2):c.1819A>G:p.Ile607Val	coding	Benign
18	46855381	T	C	T46855381C	PIAS2	NM_004671.5(PIAS2):c.690A>G:p.Leu230=	coding	Benign
18	47054391	C	A	C47054391A	KATNAL2	NM_031303.3(KATNAL2):c.74-5C>A	noncoding	Benign
18	47059584	G	A	G47059584A	KATNAL2	NM_031303.3(KATNAL2):c.263G>A:p.Ser88Asn	coding	Benign
18	47069276	C	T	C47069276T	KATNAL2	NM_031303.3(KATNAL2):c.666C>T:p.Gly222=	coding	Benign
18	47100259	T	G	T47100259G	KATNAL2	NM_031303.3(KATNAL2):c.1164T>G:p.Thr388=	coding	Benign
18	47156193	A	G	A47156193G	IER3IP1	NM_016097.5(IER3IP1):c.233T>C:p.Leu78Pro	coding	Pathogenic
18	47156520	C	T	C47156520T	IER3IP1	NM_016097.5(IER3IP1):c.194-288G>A	noncoding	Benign
18	47156522	G	T	G47156522T	IER3IP1	NM_016097.5(IER3IP1):c.194-290C>A	noncoding	Benign
18	47157223	A	C	A47157223C	IER3IP1	NM_016097.5(IER3IP1):c.193+213T>G	noncoding	Benign
18	47157482	T	C	T47157482C	IER3IP1	NM_016097.5(IER3IP1):c.147A>G:p.Lys49=	coding	Benign/Likely_benign
18	47176131	A	C	A47176131C	IER3IP1	NM_016097.5(IER3IP1):c.91+56T>G	noncoding	Benign
18	47848537	C	G	C47848537G	SMAD2	NM_005901.6(SMAD2):c.935G>C:p.Cys312Ser	coding	Pathogenic
18	47848644	C	T	C47848644T	SMAD2	NM_005901.6(SMAD2):c.828G>A:p.Ser276=	coding	Benign
18	47869288	C	A	C47869288A	SMAD2	NM_005901.6(SMAD2):c.475G>T:p.Glu159Ter	coding	Pathogenic
18	47896584	A	T	A47896584T	SMAD2	NM_005901.6(SMAD2):c.173T>A:p.Leu58Ter	coding	Pathogenic
18	48029377	G	A	G48029377A	ZBTB7C	NM_001318841.2(ZBTB7C):c.1743C>T:p.Asn581=	coding	Benign
18	48029435	G	A	G48029435A	ZBTB7C	NM_001318841.2(ZBTB7C):c.1685C>T:p.Ala562Val	coding	Benign
18	48040115	G	A	G48040115A	ZBTB7C	NM_001318841.2(ZBTB7C):c.993C>T:p.Tyr331=	coding	Benign
18	48636622	G	A	G48636622A	CTIF	NM_014772.3(CTIF):c.189G>A:p.Ala63=	coding	Benign
18	48663829	A	G	A48663829G	CTIF	NM_014772.3(CTIF):c.326+4A>G	noncoding	Benign
18	48758165	C	T	C48758165T	CTIF	NM_014772.3(CTIF):c.831C>T:p.Ile277=	coding	Benign
18	48921567	G	A	G48921567A	SMAD7	NM_005904.3(SMAD7):c.1086C>T:p.Pro362=	coding	Benign
18	48948427	G	A	G48948427A	SMAD7	NM_005904.3(SMAD7):c.624C>T:p.Pro208=	coding	Benign
18	48948427	G	T	G48948427T	SMAD7	NM_005904.3(SMAD7):c.624C>A:p.Pro208=	coding	Benign
18	48950310	C	T	C48950310T	SMAD7	NM_005904.3(SMAD7):c.115G>A:p.Gly39Arg	coding	Benign
18	49044058	G	A	G49044058A	DYM	NM_017653.5(DYM):c.2007C>T:p.Asp669=	coding	Benign/Likely_benign
18	49118866	A	G	A49118866G	DYM	NM_001353215.2(DYM):c.1729-21351T>C	coding	Pathogenic
18	49163744	G	A	G49163744A	DYM	NM_017653.5(DYM):c.1504C>T:p.Gln502Ter	coding	Pathogenic
18	49257065	T	A	T49257065A	DYM	NM_017653.5(DYM):c.1405A>T:p.Asn469Tyr	coding	Pathogenic
18	49258494	C	T	C49258494T	DYM	NM_017653.5(DYM):c.1252-1G>A	coding	Pathogenic
18	49282177	T	C	T49282177C	DYM	NM_001353214.3(DYM):c.947-2A>G	noncoding	Pathogenic
18	49332008	T	C	T49332008C	DYM	NM_017653.5(DYM):c.621-2A>G	noncoding	Pathogenic
18	49333848	A	T	A49333848T	DYM	NM_017653.5(DYM):c.500T>A:p.Ile167Asn	coding	Benign
18	49363235	T	C	T49363235C	DYM	NM_017653.5(DYM):c.422-2A>G	noncoding	Pathogenic
18	49378567	T	C	T49378567C	DYM	NM_017653.5(DYM):c.421A>G:p.Ser141Gly	coding	Benign/Likely_benign
18	49378592	A	T	A49378592T	DYM	NM_017653.5(DYM):c.396T>A:p.Tyr132Ter	coding	Pathogenic
18	49379744	G	A	G49379744A	DYM	NM_017653.5(DYM):c.208C>T:p.Arg70Ter	coding	Pathogenic
18	49391584	C	T	C49391584T	DYM	NM_017653.5(DYM):c.193+9G>A	noncoding	Benign
18	49430247	T	A	T49430247A	DYM	NM_001353214.3(DYM):c.140+8A>T	noncoding	Benign
18	49430347	G	C	G49430347C	DYM	NM_017653.5(DYM):c.48C>G:p.Tyr16Ter	coding	Pathogenic
18	49460364	C	G	C49460364G	DYM	NM_017653.5(DYM):c.-54+34G>C	noncoding	Benign
18	49460653	C	G	C49460653G	DYM	NM_017653.4(DYM):c.-309G>C	noncoding	Benign
18	49581514	C	G	C49581514G	LIPG	NM_006033.4(LIPG):c.893C>G:p.Thr298Ser	coding	Benign
18	49792313	A	T	A49792313T	ACAA2	NM_006111.3(ACAA2):c.592T>A:p.Tyr198Asn	coding	Benign
18	49823103	C	G	C49823103G	MYO5B	NM_001080467.3(MYO5B):c.*3368G>C	noncoding	Benign
18	49823198	C	T	C49823198T	MYO5B	NM_001080467.3(MYO5B):c.*3273G>A	noncoding	Benign
18	49823724	T	G	T49823724G	MYO5B	NM_001080467.3(MYO5B):c.*2747A>C	noncoding	Benign
18	49823826	A	C	A49823826C	MYO5B	NM_001080467.3(MYO5B):c.*2645T>G	noncoding	Benign
18	49824178	A	C	A49824178C	MYO5B	NM_001080467.3(MYO5B):c.*2293T>G	noncoding	Benign
18	49824188	A	G	A49824188G	MYO5B	NM_001080467.3(MYO5B):c.*2283T>C	noncoding	Benign
18	49824231	T	G	T49824231G	MYO5B	NM_001080467.3(MYO5B):c.*2240A>C	noncoding	Benign
18	49824550	C	G	C49824550G	MYO5B	NM_001080467.3(MYO5B):c.*1921G>C	noncoding	Benign
18	49824800	C	A	C49824800A	MYO5B	NM_001080467.3(MYO5B):c.*1671G>T	noncoding	Benign
18	49824857	A	G	A49824857G	MYO5B	NM_001080467.3(MYO5B):c.*1614T>C	noncoding	Benign
18	49824861	C	G	C49824861G	MYO5B	NM_001080467.3(MYO5B):c.*1610G>C	noncoding	Benign
18	49825067	A	G	A49825067G	MYO5B	NM_001080467.3(MYO5B):c.*1404T>C	noncoding	Benign
18	49825199	T	G	T49825199G	MYO5B	NM_001080467.3(MYO5B):c.*1272A>C	noncoding	Benign
18	49825329	T	G	T49825329G	MYO5B	NM_001080467.3(MYO5B):c.*1142A>C	noncoding	Benign
18	49825492	C	T	C49825492T	MYO5B	NM_001080467.3(MYO5B):c.*979G>A	noncoding	Benign
18	49825506	T	A	T49825506A	MYO5B	NM_001080467.3(MYO5B):c.*965A>T	noncoding	Benign
18	49825513	A	G	A49825513G	MYO5B	NM_001080467.3(MYO5B):c.*958T>C	noncoding	Benign
18	49825598	C	T	C49825598T	MYO5B	NM_001080467.3(MYO5B):c.*873G>A	noncoding	Benign
18	49825764	A	G	A49825764G	MYO5B	NM_001080467.3(MYO5B):c.*707T>C	noncoding	Benign
18	49826071	C	T	C49826071T	MYO5B	NM_001080467.3(MYO5B):c.*400G>A	noncoding	Benign
18	49826100	A	G	A49826100G	MYO5B	NM_001080467.3(MYO5B):c.*371T>C	noncoding	Benign
18	49826163	G	A	G49826163A	MYO5B	NM_001080467.3(MYO5B):c.*308C>T	noncoding	Benign
18	49826372	T	G	T49826372G	MYO5B	NM_001080467.3(MYO5B):c.*99A>C	noncoding	Benign
18	49826585	T	G	T49826585G	MYO5B	NM_001080467.3(MYO5B):c.5433A>C:p.Leu1811=	coding	Benign
18	49837593	T	C	T49837593C	MYO5B	NM_001080467.3(MYO5B):c.5062A>G:p.Met1688Val	coding	Benign
18	49837607	T	C	T49837607C	MYO5B	NM_001080467.3(MYO5B):c.5048A>G:p.Lys1683Arg	coding	Benign
18	49839231	C	A	C49839231A	MYO5B	NM_001080467.3(MYO5B):c.4765G>T:p.Glu1589Ter	coding	Pathogenic
18	49841392	G	C	G49841392C	MYO5B	NM_001080467.3(MYO5B):c.4674C>G:p.His1558Gln	coding	Benign/Likely_benign
18	49843371	G	A	G49843371A	MYO5B	NM_001080467.3(MYO5B):c.4481C>T:p.Ser1494Leu	coding	Benign/Likely_benign
18	49843388	C	T	C49843388T	MYO5B	NM_001080467.3(MYO5B):c.4464G>A:p.Leu1488=	coding	Benign
18	49849558	C	A	C49849558A	MYO5B	NM_001080467.3(MYO5B):c.4315+9G>T	noncoding	Benign
18	49849562	C	G	C49849562G	MYO5B	NM_001080467.3(MYO5B):c.4315+5G>C	noncoding	Benign
18	49853525	G	A	G49853525A	MYO5B	NM_001080467.3(MYO5B):c.4145C>T:p.Thr1382Met	coding	Benign
18	49856873	C	T	C49856873T	MYO5B	NM_001080467.3(MYO5B):c.3962G>A:p.Gly1321Glu	coding	Benign
18	49864156	G	A	G49864156A	MYO5B	NM_001080467.3(MYO5B):c.3828C>T:p.Leu1276=	coding	Benign/Likely_benign
18	49872179	G	A	G49872179A	MYO5B	NM_001080467.3(MYO5B):c.3591C>T:p.Tyr1197=	coding	Benign
18	49872198	G	A	G49872198A	MYO5B	NM_001080467.3(MYO5B):c.3572C>T:p.Pro1191Leu	coding	Benign
18	49875792	C	T	C49875792T	MYO5B	NM_001080467.3(MYO5B):c.3432G>A:p.Thr1144=	coding	Benign
18	49877754	A	G	A49877754G	MYO5B	NM_001080467.3(MYO5B):c.3396+9T>C	noncoding	Benign
18	49877796	G	A	G49877796A	MYO5B	NM_001080467.3(MYO5B):c.3363C>T:p.Ile1121=	coding	Benign
18	49878934	A	G	A49878934G	MYO5B	NM_001080467.3(MYO5B):c.3276+11T>C	noncoding	Benign
18	49880455	G	A	G49880455A	MYO5B	NM_001080467.3(MYO5B):c.3046C>T:p.Arg1016Ter	coding	Pathogenic
18	49894995	C	T	C49894995T	MYO5B	NM_001080467.3(MYO5B):c.2991G>A:p.Ser997=	coding	Benign
18	49902652	C	T	C49902652T	MYO5B	NM_001080467.3(MYO5B):c.2753G>A:p.Arg918His	coding	Benign
18	49902673	C	A	C49902673A	MYO5B	NM_001080467.3(MYO5B):c.2732G>T:p.Arg911Leu	coding	Benign
18	49904658	G	A	G49904658A	MYO5B	NM_001080467.3(MYO5B):c.2571+14C>T	noncoding	Benign
18	49904834	G	C	G49904834C	MYO5B	NM_001080467.3(MYO5B):c.2415-6C>G	noncoding	Benign/Likely_benign
18	49906438	G	A	G49906438A	MYO5B	NM_001080467.3(MYO5B):c.2395C>T:p.Arg799Trp	coding	Pathogenic
18	49906490	C	G	C49906490G	MYO5B	NM_001080467.3(MYO5B):c.2343G>C:p.Lys781Asn	coding	Benign/Likely_benign
18	49906605	C	T	C49906605T	MYO5B	NM_001080467.3(MYO5B):c.2228G>A:p.Arg743His	coding	Benign/Likely_benign
18	49906637	A	G	A49906637G	MYO5B	NM_001080467.3(MYO5B):c.2203-7T>C	noncoding	Benign/Likely_benign
18	49929526	A	G	A49929526G	MYO5B	NM_001080467.3(MYO5B):c.2076T>C:p.Ala692=	coding	Benign/Likely_benign
18	49929553	C	T	C49929553T	MYO5B	NM_001080467.3(MYO5B):c.2049G>A:p.Val683=	coding	Benign
18	49929612	A	G	A49929612G	MYO5B	NM_001080467.3(MYO5B):c.2004-14T>C	noncoding	Benign
18	49929613	A	G	A49929613G	MYO5B	NM_001080467.3(MYO5B):c.2004-15T>C	noncoding	Benign
18	49936250	A	T	A49936250T	MYO5B	NM_001080467.3(MYO5B):c.2003+2T>A	noncoding	Pathogenic
18	49936276	G	A	G49936276A	MYO5B	NM_001080467.3(MYO5B):c.1979C>T:p.Pro660Leu	coding	Pathogenic
18	49936287	G	A	G49936287A	MYO5B	NM_001080467.3(MYO5B):c.1968C>T:p.Arg656=	coding	Benign
18	49936289	G	A	G49936289A	MYO5B	NM_001080467.3(MYO5B):c.1966C>T:p.Arg656Cys	coding	Pathogenic
18	49937357	G	A	G49937357A	MYO5B	NM_001080467.3(MYO5B):c.1793C>T:p.Pro598Leu	coding	Benign
18	49962255	A	G	A49962255G	MYO5B	NM_001080467.3(MYO5B):c.1545+11T>C	noncoding	Benign
18	49963032	T	C	T49963032C	MYO5B	NM_001080467.3(MYO5B):c.1323-2A>G	noncoding	Pathogenic
18	49963040	G	A	G49963040A	MYO5B	NM_001080467.3(MYO5B):c.1323-10C>T	noncoding	Benign
18	49974466	G	A	G49974466A	MYO5B	NM_001080467.3(MYO5B):c.1206C>T:p.Asn402=	coding	Benign
18	49974547	C	T	C49974547T	MYO5B	NM_001080467.3(MYO5B):c.1125G>A:p.Trp375Ter	coding	Pathogenic
18	49974619	T	C	T49974619C	MYO5B	NM_001080467.3(MYO5B):c.1057-4A>G	noncoding	Benign/Likely_benign
18	49980469	C	T	C49980469T	MYO5B	NM_001080467.3(MYO5B):c.1031G>A:p.Arg344His	coding	Benign/Likely_benign
18	49980504	G	T	G49980504T	MYO5B	NM_001080467.3(MYO5B):c.996C>A:p.Ile332=	coding	Benign
18	49984743	C	A	C49984743A	MYO5B	NM_001080467.3(MYO5B):c.921G>T:p.Lys307Asn	coding	Benign
18	49984767	C	A	C49984767A	MYO5B	NM_001080467.3(MYO5B):c.897G>T:p.Val299=	coding	Benign
18	49984778	T	C	T49984778C	MYO5B	NM_001080467.3(MYO5B):c.886A>G:p.Ile296Val	coding	Benign
18	49992282	A	G	A49992282G	MYO5B	NM_001080467.3(MYO5B):c.756+6T>C	noncoding	Benign
18	49992388	C	T	C49992388T	MYO5B	NM_001080467.3(MYO5B):c.656G>A:p.Arg219His	coding	Pathogenic
18	50001421	A	G	A50001421G	MYO5B	NM_001080467.3(MYO5B):c.456-10T>C	noncoding	Benign
18	50036929	T	C	T50036929C	MYO5B	NM_001080467.3(MYO5B):c.376A>G:p.Thr126Ala	coding	Benign
18	50036982	A	C	A50036982C	MYO5B	NM_001080467.3(MYO5B):c.323T>G:p.Val108Gly	coding	Pathogenic
18	50040277	A	G	A50040277G	MYO5B	NM_001080467.3(MYO5B):c.176T>C:p.Leu59Pro	coding	Benign
18	50040308	C	G	C50040308G	MYO5B	NM_001080467.3(MYO5B):c.145G>C:p.Glu49Gln	coding	Benign
18	50055378	A	C	A50055378C	MYO5B	NM_001080467.3(MYO5B):c.28T>G:p.Cys10Gly	coding	Benign
18	50194891	G	A	G50194891A	MYO5B	NM_001080467.3(MYO5B):c.-98C>T	noncoding	Benign
18	50250809	T	C	T50250809C	CFAP53	NM_145020.5(CFAP53):c.945A>G:p.Gln315=	coding	Benign/Likely_benign
18	50250815	G	A	G50250815A	CFAP53	NM_145020.5(CFAP53):c.939C>T:p.Leu313=	coding	Benign
18	50250844	T	C	T50250844C	CFAP53	NM_145020.5(CFAP53):c.910A>G:p.Arg304Gly	coding	Benign
18	50250874	C	T	C50250874T	CFAP53	NM_145020.5(CFAP53):c.880G>A:p.Glu294Lys	coding	Benign
18	50250956	A	T	A50250956T	CFAP53	NM_145020.5(CFAP53):c.798T>A:p.Ile266=	coding	Benign
18	50250965	G	A	G50250965A	CFAP53	NM_145020.5(CFAP53):c.789C>T:p.Asn263=	coding	Benign
18	50250988	T	A	T50250988A	CFAP53	NM_145020.5(CFAP53):c.778-12A>T	noncoding	Benign
18	50251567	G	A	G50251567A	CFAP53	NM_145020.5(CFAP53):c.691C>T:p.Arg231Cys	coding	Benign
18	50251643	C	G	C50251643G	CFAP53	NM_145020.5(CFAP53):c.615G>C:p.Trp205Cys	coding	Benign
18	50251764	C	T	C50251764T	CFAP53	NM_145020.5(CFAP53):c.494G>A:p.Arg165His	coding	Benign
18	50251802	A	G	A50251802G	CFAP53	NM_145020.5(CFAP53):c.474-18T>C	noncoding	Benign
18	50261232	C	T	C50261232T	CFAP53	NM_145020.5(CFAP53):c.305G>A:p.Arg102His	coding	Benign
18	50262168	G	A	G50262168A	CFAP53	NM_145020.5(CFAP53):c.121C>T:p.Arg41Ter	coding	Pathogenic
18	50262174	T	G	T50262174G	CFAP53	NM_145020.5(CFAP53):c.115A>C:p.Arg39=	coding	Benign/Likely_benign
18	50266348	T	C	T50266348C	CFAP53	NM_145020.5(CFAP53):c.57A>G:p.Lys19=	coding	Benign/Likely_benign
18	50276696	C	T	C50276696T	MBD1	NM_015846.3(MBD1):c.441G>A:p.Arg147=	coding	Benign
18	50283340	A	G	A50283340G	CXXC1	NM_001101654.1(CXXC1):c.1608T>C:p.Asp536=	coding	Benign
18	50285233	C	T	C50285233T	CXXC1	NM_001101654.1(CXXC1):c.681G>A:p.Thr227=	coding	Benign
18	50285761	C	T	C50285761T	CXXC1	NM_001101654.1(CXXC1):c.627G>A:p.Gln209=	coding	Benign
18	50286731	C	T	C50286731T	CXXC1	NM_001101654.1(CXXC1):c.122+9G>A	noncoding	Benign
18	50286835	C	T	C50286835T	CXXC1	NM_001101654.1(CXXC1):c.27G>A:p.Glu9=	coding	Benign
18	50932347	T	A	T50932347A	ME2	NM_002396.5(ME2):c.1404T>A:p.Val468=	coding	Benign
18	51030350	C	T	C51030350T	SMAD4	NM_005359.6(SMAD4):c.-401C>T	noncoding	Benign/Likely_benign
18	51030603	C	T	C51030603T	SMAD4	NM_005359.6(SMAD4):c.-148C>T	noncoding	Benign
18	51046614	G	A	G51046614A	SMAD4	NM_005359.6(SMAD4):c.-127-306G>A	noncoding	Benign
18	51047148	A	G	A51047148G	SMAD4	NM_005359.6(SMAD4):c.102A>G:p.Thr34=	coding	Benign/Likely_benign
18	51047274	A	G	A51047274G	SMAD4	NM_005359.6(SMAD4):c.228A>G:p.Arg76=	coding	Benign/Likely_benign
18	51047293	C	T	C51047293T	SMAD4	NM_005359.6(SMAD4):c.247C>T:p.Gln83Ter	coding	Pathogenic
18	51047319	A	G	A51047319G	SMAD4	NM_005359.6(SMAD4):c.249+24A>G	noncoding	Benign
18	51047510	A	G	A51047510G	SMAD4	NM_005359.6(SMAD4):c.249+215A>G	noncoding	Benign
18	51048685	G	A	G51048685A	SMAD4	NM_005359.6(SMAD4):c.250-1G>A	noncoding	Pathogenic
18	51048733	G	A	G51048733A	SMAD4	NM_005359.6(SMAD4):c.297G>A:p.Trp99Ter	coding	Pathogenic
18	51048738	G	A	G51048738A	SMAD4	NM_005359.6(SMAD4):c.302G>A:p.Trp101Ter	coding	Pathogenic
18	51048739	G	A	G51048739A	SMAD4	NM_005359.6(SMAD4):c.303G>A:p.Trp101Ter	coding	Pathogenic
18	51048790	G	A	G51048790A	SMAD4	NM_005359.6(SMAD4):c.354G>A:p.Ala118=	coding	Benign/Likely_benign
18	51048835	C	A	C51048835A	SMAD4	NM_005359.6(SMAD4):c.399C>A:p.Tyr133Ter	coding	Pathogenic
18	51048835	C	G	C51048835G	SMAD4	NM_005359.6(SMAD4):c.399C>G:p.Tyr133Ter	coding	Pathogenic
18	51048839	C	T	C51048839T	SMAD4	NM_005359.6(SMAD4):c.403C>T:p.Arg135Ter	coding	Pathogenic
18	51048849	C	G	C51048849G	SMAD4	NM_005359.6(SMAD4):c.413C>G:p.Ser138Ter	coding	Pathogenic
18	51048861	G	A	G51048861A	SMAD4	NM_005359.6(SMAD4):c.424+1G>A	coding	Pathogenic
18	51049307	T	A	T51049307A	SMAD4	NM_005359.6(SMAD4):c.437T>A:p.Leu146Ter	coding	Pathogenic
18	51054738	A	T	A51054738T	SMAD4	NM_005359.6(SMAD4):c.455-43A>T	noncoding	Benign
18	51054775	A	G	A51054775G	SMAD4	NM_005359.6(SMAD4):c.455-6A>G	noncoding	Benign/Likely_benign
18	51054787	C	G	C51054787G	SMAD4	NM_005359.6(SMAD4):c.461C>G:p.Ser154Ter	coding	Pathogenic
18	51054831	C	T	C51054831T	SMAD4	NM_005359.6(SMAD4):c.505C>T:p.Gln169Ter	coding	Pathogenic
18	51054859	C	A	C51054859A	SMAD4	NM_005359.6(SMAD4):c.533C>A:p.Ser178Ter	coding	Pathogenic
18	51054859	C	G	C51054859G	SMAD4	NM_005359.6(SMAD4):c.533C>G:p.Ser178Ter	coding	Pathogenic
18	51054864	C	T	C51054864T	SMAD4	NM_005359.6(SMAD4):c.538C>T:p.Gln180Ter	coding	Pathogenic
18	51054873	C	T	C51054873T	SMAD4	NM_005359.6(SMAD4):c.547C>T:p.Gln183Ter	coding	Pathogenic
18	51054908	A	G	A51054908G	SMAD4	NM_005359.6(SMAD4):c.582A>G:p.Thr194=	coding	Benign/Likely_benign
18	51054911	C	G	C51054911G	SMAD4	NM_005359.6(SMAD4):c.585C>G:p.Tyr195Ter	coding	Pathogenic
18	51055231	C	A	C51055231A	SMAD4	NM_005359.6(SMAD4):c.667+238C>A	noncoding	Benign
18	51058150	C	T	C51058150T	SMAD4	NM_005359.6(SMAD4):c.693C>T:p.Gly231=	coding	Benign/Likely_benign
18	51058380	C	G	C51058380G	SMAD4	NM_005359.6(SMAD4):c.828C>G:p.Tyr276Ter	coding	Pathogenic
18	51058404	A	G	A51058404G	SMAD4	NM_005359.6(SMAD4):c.852A>G:p.Gln284=	coding	Benign/Likely_benign
18	51058455	C	G	C51058455G	SMAD4	NM_005359.6(SMAD4):c.903C>G:p.Tyr301Ter	coding	Pathogenic
18	51058485	A	T	A51058485T	SMAD4	NM_005359.6(SMAD4):c.904+29A>T	noncoding	Benign
18	51059814	A	G	A51059814G	SMAD4	NM_005359.6(SMAD4):c.905-52A>G	noncoding	Benign
18	51059866	G	A	G51059866A	SMAD4	NM_005359.6(SMAD4):c.905G>A:p.Trp302Ter	coding	Pathogenic
18	51059867	G	A	G51059867A	SMAD4	NM_005359.6(SMAD4):c.906G>A:p.Trp302Ter	coding	Pathogenic
18	51059870	T	G	T51059870G	SMAD4	NM_005359.6(SMAD4):c.909T>G:p.Pro303=	coding	Benign/Likely_benign
18	51059892	C	T	C51059892T	SMAD4	NM_005359.6(SMAD4):c.931C>T:p.Gln311Ter	coding	Pathogenic
18	51059923	G	A	G51059923A	SMAD4	NM_005359.6(SMAD4):c.955+7G>A	noncoding	Benign/Likely_benign
18	51065455	G	A	G51065455A	SMAD4	NM_005359.6(SMAD4):c.988G>A:p.Glu330Lys	coding	Pathogenic
18	51065456	A	C	A51065456C	SMAD4	NM_005359.6(SMAD4):c.989A>C:p.Glu330Ala	coding	Pathogenic
18	51065495	C	G	C51065495G	SMAD4	NM_005359.6(SMAD4):c.1028C>G:p.Ser343Ter	coding	Pathogenic
18	51065518	G	A	G51065518A	SMAD4	NM_005359.6(SMAD4):c.1051G>A:p.Asp351Asn	coding	Pathogenic
18	51065518	G	C	G51065518C	SMAD4	NM_005359.6(SMAD4):c.1051G>C:p.Asp351His	coding	Pathogenic
18	51065521	G	A	G51065521A	SMAD4	NM_005359.6(SMAD4):c.1054G>A:p.Gly352Arg	coding	Pathogenic
18	51065522	G	A	G51065522A	SMAD4	NM_005359.6(SMAD4):c.1055G>A:p.Gly352Glu	coding	Pathogenic
18	51065525	A	C	A51065525C	SMAD4	NM_005359.6(SMAD4):c.1058A>C:p.Tyr353Ser	coding	Pathogenic
18	51065532	C	A	C51065532A	SMAD4	NM_005359.6(SMAD4):c.1065C>A:p.Asp355Glu	coding	Pathogenic
18	51065539	G	T	G51065539T	SMAD4	NM_005359.6(SMAD4):c.1072G>T:p.Gly358Ter	coding	Pathogenic
18	51065548	C	A	C51065548A	SMAD4	NM_005359.6(SMAD4):c.1081C>A:p.Arg361Ser	coding	Pathogenic
18	51065548	C	T	C51065548T	SMAD4	NM_005359.6(SMAD4):c.1081C>T:p.Arg361Cys	coding	Pathogenic
18	51065549	G	A	G51065549A	SMAD4	NM_005359.6(SMAD4):c.1082G>A:p.Arg361His	coding	Pathogenic
18	51065549	G	T	G51065549T	SMAD4	NM_005359.6(SMAD4):c.1082G>T:p.Arg361Leu	coding	Pathogenic
18	51065553	T	C	T51065553C	SMAD4	NM_005359.6(SMAD4):c.1086T>C:p.Phe362=	coding	Benign/Likely_benign
18	51065554	T	C	T51065554C	SMAD4	NM_005359.6(SMAD4):c.1087T>C:p.Cys363Arg	coding	Pathogenic
18	51065558	T	G	T51065558G	SMAD4	NM_005359.6(SMAD4):c.1091T>G:p.Leu364Trp	coding	Pathogenic
18	51065563	C	T	C51065563T	SMAD4	NM_005359.6(SMAD4):c.1096C>T:p.Gln366Ter	coding	Pathogenic
18	51065607	G	A	G51065607A	SMAD4	NM_005359.6(SMAD4):c.1139+1G>A	coding	Pathogenic
18	51066763	G	A	G51066763A	SMAD4	NM_005359.6(SMAD4):c.1140-256G>A	noncoding	Benign
18	51067009	T	C	T51067009C	SMAD4	NM_005359.6(SMAD4):c.1140-10T>C	noncoding	Benign
18	51067018	G	A	G51067018A	SMAD4	NM_005359.6(SMAD4):c.1140-1G>A	noncoding	Pathogenic
18	51067021	T	A	T51067021A	SMAD4	NM_005359.6(SMAD4):c.1142T>A:p.Leu381Ter	coding	Pathogenic
18	51067027	T	A	T51067027A	SMAD4	NM_005359.6(SMAD4):c.1148T>A:p.Ile383Lys	coding	Pathogenic
18	51067036	G	A	G51067036A	SMAD4	NM_005359.6(SMAD4):c.1157G>A:p.Gly386Asp	coding	Pathogenic/Likely_pathogenic
18	51067041	C	T	C51067041T	SMAD4	NM_005359.6(SMAD4):c.1162C>T:p.Gln388Ter	coding	Pathogenic
18	51067047	G	A	G51067047A	SMAD4	NM_005359.6(SMAD4):c.1168G>A:p.Glu390Lys	coding	Pathogenic
18	51067072	G	A	G51067072A	SMAD4	NM_005359.6(SMAD4):c.1193G>A:p.Trp398Ter	coding	Pathogenic
18	51067073	G	A	G51067073A	SMAD4	NM_005359.6(SMAD4):c.1194G>A:p.Trp398Ter	coding	Pathogenic
18	51067097	G	A	G51067097A	SMAD4	NM_005359.6(SMAD4):c.1218G>A:p.Ala406=	coding	Benign/Likely_benign
18	51067115	C	G	C51067115G	SMAD4	NM_005359.6(SMAD4):c.1236C>G:p.Tyr412Ter	coding	Pathogenic
18	51067118	C	A	C51067118A	SMAD4	NM_005359.6(SMAD4):c.1239C>A:p.Tyr413Ter	coding	Pathogenic
18	51067118	C	G	C51067118G	SMAD4	NM_005359.6(SMAD4):c.1239C>G:p.Tyr413Ter	coding	Pathogenic
18	51067188	G	A	G51067188A	SMAD4	NM_005359.6(SMAD4):c.1308+1G>A	coding	Pathogenic/Likely_pathogenic
18	51067189	T	C	T51067189C	SMAD4	NM_005359.6(SMAD4):c.1308+2T>C	noncoding	Pathogenic
18	51076653	C	T	C51076653T	SMAD4	NM_005359.6(SMAD4):c.1324C>T:p.Gln442Ter	coding	Pathogenic
18	51076662	C	T	C51076662T	SMAD4	NM_005359.6(SMAD4):c.1333C>T:p.Arg445Ter	coding	Pathogenic
18	51076671	C	T	C51076671T	SMAD4	NM_005359.6(SMAD4):c.1342C>T:p.Gln448Ter	coding	Pathogenic
18	51076674	C	T	C51076674T	SMAD4	NM_005359.6(SMAD4):c.1345C>T:p.Gln449Ter	coding	Pathogenic
18	51076677	C	T	C51076677T	SMAD4	NM_005359.6(SMAD4):c.1348C>T:p.Gln450Ter	coding	Pathogenic
18	51076692	C	T	C51076692T	SMAD4	NM_005359.6(SMAD4):c.1363C>T:p.Gln455Ter	coding	Pathogenic
18	51076710	C	T	C51076710T	SMAD4	NM_005359.6(SMAD4):c.1381C>T:p.Gln461Ter	coding	Pathogenic
18	51076721	C	T	C51076721T	SMAD4	NM_005359.6(SMAD4):c.1392C>T:p.Ala464=	coding	Benign/Likely_benign
18	51076777	G	A	G51076777A	SMAD4	NM_005359.6(SMAD4):c.1447+1G>A	coding	Pathogenic
18	51077033	T	C	T51077033C	SMAD4	NM_005359.6(SMAD4):c.1447+257T>C	noncoding	Benign
18	51078280	G	T	G51078280T	SMAD4	NM_005359.6(SMAD4):c.1472G>T:p.Gly491Val	coding	Pathogenic
18	51078285	G	C	G51078285C	SMAD4	NM_005359.6(SMAD4):c.1477G>C:p.Asp493His	coding	Pathogenic
18	51078286	A	C	A51078286C	SMAD4	NM_005359.6(SMAD4):c.1478A>C:p.Asp493Ala	coding	Pathogenic
18	51078294	C	T	C51078294T	SMAD4	NM_005359.6(SMAD4):c.1486C>T:p.Arg496Cys	coding	Pathogenic/Likely_pathogenic
18	51078306	A	G	A51078306G	SMAD4	NM_005359.6(SMAD4):c.1498A>G:p.Ile500Val	coding	Pathogenic
18	51078307	T	C	T51078307C	SMAD4	NM_005359.6(SMAD4):c.1499T>C:p.Ile500Thr	coding	Pathogenic
18	51078308	A	G	A51078308G	SMAD4	NM_005359.6(SMAD4):c.1500A>G:p.Ile500Met	coding	Pathogenic
18	51078333	T	A	T51078333A	SMAD4	NM_005359.6(SMAD4):c.1525T>A:p.Trp509Arg	coding	Pathogenic
18	51078335	G	A	G51078335A	SMAD4	NM_005359.6(SMAD4):c.1527G>A:p.Trp509Ter	coding	Pathogenic
18	51078337	G	T	G51078337T	SMAD4	NM_005359.6(SMAD4):c.1529G>T:p.Gly510Val	coding	Pathogenic
18	51078351	A	T	A51078351T	SMAD4	NM_005359.6(SMAD4):c.1543A>T:p.Arg515Ter	coding	Pathogenic
18	51078379	G	T	G51078379T	SMAD4	NM_005359.6(SMAD4):c.1571G>T:p.Trp524Leu	coding	Pathogenic
18	51078380	G	A	G51078380A	SMAD4	NM_005359.6(SMAD4):c.1572G>A:p.Trp524Ter	coding	Pathogenic
18	51078405	C	G	C51078405G	SMAD4	NM_005359.6(SMAD4):c.1597C>G:p.Leu533Val	coding	Pathogenic
18	51078406	T	C	T51078406C	SMAD4	NM_005359.6(SMAD4):c.1598T>C:p.Leu533Pro	coding	Pathogenic
18	51078406	T	G	T51078406G	SMAD4	NM_005359.6(SMAD4):c.1598T>G:p.Leu533Arg	coding	Pathogenic
18	51078408	C	T	C51078408T	SMAD4	NM_005359.6(SMAD4):c.1600C>T:p.Gln534Ter	coding	Pathogenic
18	51078417	G	T	G51078417T	SMAD4	NM_005359.6(SMAD4):c.1609G>T:p.Asp537Tyr	coding	Pathogenic
18	51078455	A	G	A51078455G	SMAD4	NM_005359.6(SMAD4):c.1647A>G:p.Gln549=	coding	Benign/Likely_benign
18	51078478	C	T	C51078478T	SMAD4	NM_005359.6(SMAD4):c.*11C>T	noncoding	Benign/Likely_benign
18	51078479	G	A	G51078479A	SMAD4	NM_005359.6(SMAD4):c.*12G>A	noncoding	Benign/Likely_benign
18	51078801	C	T	C51078801T	SMAD4	NM_005359.6(SMAD4):c.*334C>T	noncoding	Benign/Likely_benign
18	51078879	A	G	A51078879G	SMAD4	NM_005359.6(SMAD4):c.*412A>G	noncoding	Benign
18	51079152	A	C	A51079152C	SMAD4	NM_005359.6(SMAD4):c.*685A>C	noncoding	Benign
18	51079646	T	C	T51079646C	SMAD4	NM_005359.6(SMAD4):c.*1179T>C	noncoding	Benign
18	51080126	C	A	C51080126A	SMAD4	NM_005359.6(SMAD4):c.*1659C>A	noncoding	Benign
18	51080287	T	G	T51080287G	SMAD4	NM_005359.6(SMAD4):c.*1820T>G	noncoding	Benign
18	51080331	C	A	C51080331A	SMAD4	NM_005359.6(SMAD4):c.*1864C>A	noncoding	Benign/Likely_benign
18	51080333	A	G	A51080333G	SMAD4	NM_005359.6(SMAD4):c.*1866A>G	noncoding	Benign
18	51080820	C	T	C51080820T	SMAD4	NM_005359.6(SMAD4):c.*2353C>T	noncoding	Benign
18	51080828	A	G	A51080828G	SMAD4	NM_005359.6(SMAD4):c.*2361A>G	noncoding	Benign
18	51080955	T	A	T51080955A	SMAD4	NM_005359.6(SMAD4):c.*2488T>A	noncoding	Benign/Likely_benign
18	51081263	G	T	G51081263T	SMAD4	NM_005359.6(SMAD4):c.*2796G>T	noncoding	Benign
18	51081381	C	T	C51081381T	SMAD4	NM_005359.6(SMAD4):c.*2914C>T	noncoding	Benign/Likely_benign
18	51081456	A	G	A51081456G	SMAD4	NM_005359.6(SMAD4):c.*2989A>G	noncoding	Benign
18	51081865	A	G	A51081865G	SMAD4	NM_005359.6(SMAD4):c.*3398A>G	noncoding	Benign/Likely_benign
18	51082129	C	T	C51082129T	SMAD4	NM_005359.6(SMAD4):c.*3662C>T	noncoding	Benign
18	51082845	T	G	T51082845G	SMAD4	NM_005359.6(SMAD4):c.*4378T>G	noncoding	Benign/Likely_benign
18	51083110	T	C	T51083110C	SMAD4	NM_005359.6(SMAD4):c.*4643T>C	noncoding	Benign/Likely_benign
18	51083215	C	T	C51083215T	SMAD4	NM_005359.6(SMAD4):c.*4748C>T	noncoding	Benign/Likely_benign
18	51083329	A	G	A51083329G	SMAD4	NM_005359.6(SMAD4):c.*4862A>G	noncoding	Benign/Likely_benign
18	51083547	A	G	A51083547G	SMAD4	NM_005359.6(SMAD4):c.*5080A>G	noncoding	Benign
18	51083550	G	A	G51083550A	SMAD4	NM_005359.6(SMAD4):c.*5083G>A	noncoding	Benign
18	51083598	A	G	A51083598G	SMAD4	NM_005359.6(SMAD4):c.*5131A>G	noncoding	Benign
18	51083637	C	T	C51083637T	SMAD4	NM_005359.6(SMAD4):c.*5170C>T	noncoding	Benign
18	51083726	A	T	A51083726T	SMAD4	NM_005359.6(SMAD4):c.*5259A>T	noncoding	Benign
18	51083886	T	C	T51083886C	SMAD4	NM_005359.6(SMAD4):c.*5419T>C	noncoding	Benign
18	51084002	A	G	A51084002G	SMAD4	NM_005359.6(SMAD4):c.*5535A>G	noncoding	Benign
18	51084094	G	A	G51084094A	SMAD4	NM_005359.6(SMAD4):c.*5627G>A	noncoding	Benign
18	51084268	T	C	T51084268C	SMAD4	NM_005359.6(SMAD4):c.*5801T>C	noncoding	Benign/Likely_benign
18	51084461	A	C	A51084461C	SMAD4	NM_005359.6(SMAD4):c.*5994A>C	noncoding	Benign
18	51084476	G	C	G51084476C	SMAD4	NM_005359.6(SMAD4):c.*6009G>C	noncoding	Benign/Likely_benign
18	51084890	G	C	G51084890C	SMAD4	NM_005359.6(SMAD4):c.*6423G>C	noncoding	Benign
18	51084959	A	T	A51084959T	SMAD4	NM_005359.6(SMAD4):c.*6492A>T	noncoding	Benign/Likely_benign
18	51084980	C	T	C51084980T	SMAD4	NM_005359.6(SMAD4):c.*6513C>T	noncoding	Benign
18	52340885	G	A	G52340885A	DCC	NM_005215.4(DCC):c.91+7G>A	noncoding	Benign
18	52752265	C	T	C52752265T	DCC	NM_005215.4(DCC):c.303C>T:p.Asn101=	coding	Benign
18	52752339	C	A	C52752339A	DCC	NM_005215.4(DCC):c.377C>A:p.Ser126Ter	coding	Pathogenic
18	52906134	T	C	T52906134C	DCC	NM_005215.4(DCC):c.503T>C:p.Met168Thr	coding	Pathogenic
18	52906232	C	G	C52906232G	DCC	NM_005215.4(DCC):c.601C>G:p.Arg201Gly	coding	Benign
18	52906274	C	T	C52906274T	DCC	NM_005215.4(DCC):c.643C>T:p.Arg215Ter	coding	Pathogenic
18	52906285	C	A	C52906285A	DCC	NM_005215.4(DCC):c.654C>A:p.Ala218=	coding	Benign
18	52923832	C	T	C52923832T	DCC	NM_005215.4(DCC):c.823C>T:p.Arg275Ter	coding	Pathogenic
18	52925329	A	C	A52925329C	DCC	NM_005215.4(DCC):c.944A>C:p.Lys315Thr	coding	Benign
18	53063381	C	T	C53063381T	DCC	NM_005215.4(DCC):c.1062C>T:p.Val354=	coding	Benign
18	53063460	G	A	G53063460A	DCC	NM_005215.4(DCC):c.1140+1G>A	coding	Pathogenic
18	53066048	A	T	A53066048T	DCC	NM_005215.4(DCC):c.1143A>T:p.Gly381=	coding	Benign
18	53179000	A	T	A53179000T	DCC	NM_005215.4(DCC):c.1457A>T:p.Gln486Leu	coding	Benign
18	53207746	G	C	G53207746C	DCC	NM_005215.4(DCC):c.1790G>C:p.Arg597Pro	coding	Pathogenic
18	53215598	G	C	G53215598C	DCC	NM_005215.4(DCC):c.1911+1G>C	coding	Pathogenic
18	53305666	G	A	G53305666A	DCC	NM_005215.4(DCC):c.2000G>A:p.Arg667His	coding	Benign
18	53305728	T	C	T53305728C	DCC	NM_005215.4(DCC):c.2053+9T>C	noncoding	Benign
18	53322151	C	T	C53322151T	DCC	NM_005215.4(DCC):c.2158C>T:p.Leu720=	coding	Benign
18	53339775	A	T	A53339775T	DCC	NM_005215.4(DCC):c.2227A>T:p.Met743Leu	coding	Pathogenic
18	53339808	G	A	G53339808A	DCC	NM_005215.4(DCC):c.2260G>A:p.Val754Met	coding	Pathogenic
18	53386061	T	G	T53386061G	DCC	NM_005215.4(DCC):c.2378T>G:p.Val793Gly	coding	Pathogenic
18	53386097	G	A	G53386097A	DCC	NM_005215.4(DCC):c.2414G>A:p.Gly805Glu	coding	Pathogenic
18	53386145	G	A	G53386145A	DCC	NM_005215.4(DCC):c.2455+7G>A	noncoding	Benign
18	53391876	G	A	G53391876A	DCC	NM_005215.4(DCC):c.2677G>A:p.Ala893Thr	coding	Pathogenic
18	53397343	A	G	A53397343G	DCC	NM_005215.4(DCC):c.2724A>G:p.Thr908=	coding	Benign
18	53450499	G	A	G53450499A	DCC	NM_005215.4(DCC):c.3230-1G>A	noncoding	Pathogenic
18	53526629	C	A	C53526629A	DCC	NM_005215.4(DCC):c.4124C>A:p.Pro1375His	coding	Pathogenic
18	54164588	A	G	A54164588G	MBD2	NM_003927.5(MBD2):c.1044T>C:p.Pro348=	coding	Benign
18	55222532	A	G	A55222532G	TCF4	NM_001083962.2(TCF4):c.*5503T>C	noncoding	Benign
18	55222666	G	A	G55222666A	TCF4	NM_001083962.2(TCF4):c.*5369C>T	noncoding	Benign
18	55222736	T	C	T55222736C	TCF4	NM_001083962.2(TCF4):c.*5299A>G	noncoding	Benign
18	55222929	A	G	A55222929G	TCF4	NM_001083962.2(TCF4):c.*5106T>C	noncoding	Benign
18	55223016	A	G	A55223016G	TCF4	NM_001083962.2(TCF4):c.*5019T>C	noncoding	Benign
18	55223486	G	C	G55223486C	TCF4	NM_001083962.2(TCF4):c.*4549C>G	noncoding	Benign
18	55223598	C	G	C55223598G	TCF4	NM_001083962.2(TCF4):c.*4437G>C	noncoding	Benign
18	55223947	A	G	A55223947G	TCF4	NM_001083962.2(TCF4):c.*4088T>C	noncoding	Benign
18	55224097	C	T	C55224097T	TCF4	NM_001083962.2(TCF4):c.*3938G>A	noncoding	Benign
18	55224544	G	A	G55224544A	TCF4	NM_001083962.2(TCF4):c.*3491C>T	noncoding	Benign
18	55224631	C	G	C55224631G	TCF4	NM_001083962.2(TCF4):c.*3404G>C	noncoding	Benign
18	55224766	A	T	A55224766T	TCF4	NM_001083962.2(TCF4):c.*3269T>A	noncoding	Benign
18	55224977	G	A	G55224977A	TCF4	NM_001083962.2(TCF4):c.*3058C>T	noncoding	Benign
18	55225084	T	C	T55225084C	TCF4	NM_001083962.2(TCF4):c.*2951A>G	noncoding	Benign
18	55225347	T	C	T55225347C	TCF4	NM_001083962.2(TCF4):c.*2688A>G	noncoding	Benign
18	55225375	T	C	T55225375C	TCF4	NM_001083962.2(TCF4):c.*2660A>G	noncoding	Benign
18	55225482	G	A	G55225482A	TCF4	NM_001083962.2(TCF4):c.*2553C>T	noncoding	Benign
18	55225622	C	T	C55225622T	TCF4	NM_001083962.2(TCF4):c.*2413G>A	noncoding	Benign
18	55226034	C	A	C55226034A	TCF4	NM_001083962.2(TCF4):c.*2001G>T	noncoding	Benign
18	55226132	C	T	C55226132T	TCF4	NM_001083962.2(TCF4):c.*1903G>A	noncoding	Benign
18	55226146	A	C	A55226146C	TCF4	NM_001083962.2(TCF4):c.*1889T>G	noncoding	Benign
18	55226236	C	G	C55226236G	TCF4	NM_001083962.2(TCF4):c.*1799G>C	noncoding	Benign
18	55226459	A	G	A55226459G	TCF4	NM_001083962.2(TCF4):c.*1576T>C	noncoding	Benign
18	55227126	C	T	C55227126T	TCF4	NM_001083962.2(TCF4):c.*909G>A	noncoding	Benign
18	55227203	C	A	C55227203A	TCF4	NM_001083962.2(TCF4):c.*832G>T	noncoding	Benign
18	55227327	A	T	A55227327T	TCF4	NM_001083962.2(TCF4):c.*708T>A	noncoding	Benign
18	55227486	C	T	C55227486T	TCF4	NM_001083962.2(TCF4):c.*549G>A	noncoding	Benign
18	55227584	T	C	T55227584C	TCF4	NM_001083962.2(TCF4):c.*451A>G	noncoding	Benign
18	55227982	G	T	G55227982T	TCF4	NM_001083962.2(TCF4):c.*53C>A	noncoding	Benign
18	55228013	C	T	C55228013T	TCF4	NM_001083962.2(TCF4):c.*22G>A	noncoding	Benign
18	55228040	G	A	G55228040A	TCF4	NM_001083962.2(TCF4):c.5-10C>T	noncoding	Benign
18	55228246	C	T	C55228246T	TCF4	NM_001083962.2(TCF4):c.1995G>A:p.Ser665=	coding	Benign/Likely_benign
18	55228300	T	C	T55228300C	TCF4	NM_001083962.2(TCF4):c.1941A>G:p.Ser647=	coding	Benign
18	55228318	C	T	C55228318T	TCF4	NM_001083962.2(TCF4):c.1923G>A:p.Glu641=	coding	Benign/Likely_benign
18	55228336	C	T	C55228336T	TCF4	NM_001083962.2(TCF4):c.1905G>A:p.Ala635=	coding	Benign/Likely_benign
18	55228426	C	T	C55228426T	TCF4	NM_001083962.2(TCF4):c.1880-65G>A	noncoding	Benign
18	55228631	C	T	C55228631T	TCF4	NM_001083962.2(TCF4):c.1879+216G>A	noncoding	Benign
18	55228769	A	G	A55228769G	TCF4	NM_001083962.2(TCF4):c.1879+78T>C	noncoding	Benign
18	55228772	A	G	A55228772G	TCF4	NM_001083962.2(TCF4):c.1879+75T>C	noncoding	Benign
18	55228850	G	A	G55228850A	TCF4	NM_001083962.2(TCF4):c.1876C>T:p.Arg626Ter	coding	Pathogenic/Likely_pathogenic
18	55228885	G	A	G55228885A	TCF4	NM_001083962.2(TCF4):c.1841C>T:p.Ala614Val	coding	Pathogenic
18	55228913	G	A	G55228913A	TCF4	NM_001083962.2(TCF4):c.1813C>T:p.Gln605Ter	coding	Pathogenic
18	55228987	C	T	C55228987T	TCF4	NM_001083962.2(TCF4):c.1739G>A:p.Arg580Gln	coding	Pathogenic/Likely_pathogenic
18	55228988	G	A	G55228988A	TCF4	NM_001083962.2(TCF4):c.1738C>T:p.Arg580Trp	coding	Pathogenic
18	55228993	C	G	C55228993G	TCF4	NM_001083962.2(TCF4):c.1733G>C:p.Arg578Pro	coding	Pathogenic
18	55228993	C	T	C55228993T	TCF4	NM_001083962.2(TCF4):c.1733G>A:p.Arg578His	coding	Pathogenic
18	55228999	C	T	C55228999T	TCF4	NM_001083962.2(TCF4):c.1727G>A:p.Arg576Gln	coding	Pathogenic
18	55229000	G	A	G55229000A	TCF4	NM_001083962.2(TCF4):c.1726C>T:p.Arg576Ter	coding	Pathogenic/Likely_pathogenic
18	55229006	T	C	T55229006C	TCF4	NM_001083962.2(TCF4):c.1720A>G:p.Asn574Asp	coding	Pathogenic/Likely_pathogenic
18	55229021	G	A	G55229021A	TCF4	NM_001083962.2(TCF4):c.1705C>T:p.Arg569Trp	coding	Pathogenic
18	55229022	C	T	C55229022T	TCF4	NM_001083962.2(TCF4):c.1704G>A:p.Glu568=	coding	Benign/Likely_benign
18	55229078	T	C	T55229078C	TCF4	NM_001083962.2(TCF4):c.1650-2A>G	noncoding	Pathogenic
18	55229090	G	A	G55229090A	TCF4	NM_001083962.2(TCF4):c.1650-14C>T	noncoding	Benign
18	55229278	G	A	G55229278A	TCF4	NM_001083962.2(TCF4):c.1650-202C>T	noncoding	Benign
18	55229399	G	T	G55229399T	TCF4	NM_001083962.2(TCF4):c.1650-323C>A	noncoding	Benign
18	55232564	T	C	T55232564C	TCF4	NM_001083962.2(TCF4):c.1594A>G:p.Lys532Glu	coding	Benign
18	55232588	G	A	G55232588A	TCF4	NM_001083962.2(TCF4):c.1570C>T:p.Gln524Ter	coding	Pathogenic
18	55232606	C	A	C55232606A	TCF4	NM_001083962.2(TCF4):c.1552G>T:p.Glu518Ter	coding	Pathogenic
18	55232607	G	A	G55232607A	TCF4	NM_001083962.2(TCF4):c.1551C>T:p.Asp517=	coding	Benign
18	55232657	G	A	G55232657A	TCF4	NM_001083962.2(TCF4):c.1501C>T:p.Leu501=	coding	Benign
18	55232660	C	A	C55232660A	TCF4	NM_001083962.2(TCF4):c.1498G>T:p.Gly500Ter	coding	Pathogenic
18	55234376	A	G	A55234376G	TCF4	NM_001083962.2(TCF4):c.1486+172T>C	noncoding	Benign
18	55234546	A	C	A55234546C	TCF4	NM_001083962.2(TCF4):c.1486+2T>G	noncoding	Pathogenic
18	55234547	C	A	C55234547A	TCF4	NM_001083962.2(TCF4):c.1486+1G>T	noncoding	Pathogenic
18	55234563	G	A	G55234563A	TCF4	NM_001083962.2(TCF4):c.1471C>T:p.Gln491Ter	coding	Pathogenic
18	55234596	G	A	G55234596A	TCF4	NM_001083962.2(TCF4):c.1438C>T:p.Gln480Ter	coding	Pathogenic
18	55234615	C	A	C55234615A	TCF4	NM_001083962.2(TCF4):c.1419G>T:p.Pro473=	coding	Benign
18	55234615	C	G	C55234615G	TCF4	NM_001083962.2(TCF4):c.1419G>C:p.Pro473=	coding	Benign/Likely_benign
18	55234623	G	A	G55234623A	TCF4	NM_001083962.2(TCF4):c.1411C>T:p.Gln471Ter	coding	Pathogenic
18	55234702	C	T	C55234702T	TCF4	NM_001083962.2(TCF4):c.1351-19G>A	noncoding	Benign
18	55254216	G	T	G55254216T	TCF4	NM_001083962.2(TCF4):c.1350+281C>A	noncoding	Benign
18	55254375	C	T	C55254375T	TCF4	NM_001083962.2(TCF4):c.1350+122G>A	noncoding	Benign
18	55254442	T	C	T55254442C	TCF4	NM_001083962.2(TCF4):c.1350+55A>G	noncoding	Benign
18	55254519	G	C	G55254519C	TCF4	NM_001083962.2(TCF4):c.1328C>G:p.Ser443Ter	coding	Pathogenic
18	55254529	C	T	C55254529T	TCF4	NM_001083962.2(TCF4):c.1318G>A:p.Gly440Ser	coding	Benign
18	55254543	G	C	G55254543C	TCF4	NM_001083962.2(TCF4):c.1304C>G:p.Ser435Ter	coding	Pathogenic
18	55254548	C	T	C55254548T	TCF4	NM_001083962.2(TCF4):c.1299G>A:p.Leu433=	coding	Benign/Likely_benign
18	55254653	A	G	A55254653G	TCF4	NM_001083962.2(TCF4):c.1194T>C:p.His398=	coding	Benign
18	55254694	G	A	G55254694A	TCF4	NM_001083962.2(TCF4):c.1153C>T:p.Arg385Ter	coding	Pathogenic
18	55254769	T	C	T55254769C	TCF4	NM_001083962.2(TCF4):c.1147-69A>G	noncoding	Benign
18	55257086	C	G	C55257086G	TCF4	NM_001083962.2(TCF4):c.1146+229G>C	noncoding	Benign
18	55257117	T	C	T55257117C	TCF4	NM_001083962.2(TCF4):c.1146+198A>G	noncoding	Benign
18	55257312	T	C	T55257312C	TCF4	NM_001083962.2(TCF4):c.1146+3A>G	noncoding	Pathogenic
18	55257314	C	T	C55257314T	TCF4	NM_001083962.2(TCF4):c.1146+1G>A	noncoding	Pathogenic
18	55257375	C	T	C55257375T	TCF4	NM_001083962.2(TCF4):c.1086G>A:p.Trp362Ter	coding	Pathogenic
18	55259948	C	A	C55259948A	TCF4	NM_001083962.2(TCF4):c.1069+1G>T	noncoding	Pathogenic
18	55259948	C	T	C55259948T	TCF4	NM_001083962.2(TCF4):c.1069+1G>A	noncoding	Pathogenic
18	55259951	G	T	G55259951T	TCF4	NM_001083962.2(TCF4):c.1067C>A:p.Ser356Ter	coding	Pathogenic
18	55259981	G	C	G55259981C	TCF4	NM_001083962.2(TCF4):c.1037C>G:p.Ser346Ter	coding	Pathogenic
18	55260029	T	C	T55260029C	TCF4	NM_001083962.2(TCF4):c.991-2A>G	noncoding	Pathogenic
18	55260169	T	C	T55260169C	TCF4	NM_001083962.2(TCF4):c.991-142A>G	noncoding	Benign
18	55261466	C	T	C55261466T	TCF4	NM_001083962.2(TCF4):c.990G>A:p.Ser330=	coding	Pathogenic/Likely_pathogenic
18	55261488	G	A	G55261488A	TCF4	NM_001083962.2(TCF4):c.968C>T:p.Ala323Val	coding	Pathogenic
18	55261490	A	G	A55261490G	TCF4	NM_001083962.2(TCF4):c.966T>C:p.Asp322=	coding	Benign/Likely_benign
18	55261511	G	A	G55261511A	TCF4	NM_001083962.2(TCF4):c.945C>T:p.Ala315=	coding	Benign/Likely_benign
18	55261512	G	A	G55261512A	TCF4	NM_001083962.2(TCF4):c.944C>T:p.Ala315Val	coding	Benign/Likely_benign
18	55261520	G	A	G55261520A	TCF4	NM_001083962.2(TCF4):c.936C>T:p.Ser312=	coding	Benign/Likely_benign
18	55261525	C	A	C55261525A	TCF4	NM_001083962.2(TCF4):c.931G>T:p.Gly311Ter	coding	Pathogenic
18	55261535	T	C	T55261535C	TCF4	NM_001083962.2(TCF4):c.923-2A>G	noncoding	Pathogenic
18	55261757	G	A	G55261757A	TCF4	NM_001083962.2(TCF4):c.923-224C>T	noncoding	Benign
18	55269830	C	A	C55269830A	TCF4	NM_001083962.2(TCF4):c.922+1G>T	noncoding	Pathogenic
18	55269862	C	T	C55269862T	TCF4	NM_001083962.2(TCF4):c.891G>A:p.Thr297=	coding	Benign
18	55269880	G	C	G55269880C	TCF4	NM_001083962.2(TCF4):c.873C>G:p.Tyr291Ter	coding	Pathogenic
18	55269937	G	A	G55269937A	TCF4	NM_001083962.2(TCF4):c.816C>T:p.Asp272=	coding	Benign/Likely_benign
18	55269958	A	T	A55269958T	TCF4	NM_001083962.2(TCF4):c.795T>A:p.Tyr265Ter	coding	Pathogenic
18	55269965	T	C	T55269965C	TCF4	NM_001083962.2(TCF4):c.790-2A>G	noncoding	Pathogenic
18	55269982	A	G	A55269982G	TCF4	NM_001083962.2(TCF4):c.790-19T>C	noncoding	Benign
18	55270155	G	C	G55270155C	TCF4	NM_001083962.2(TCF4):c.790-192C>G	noncoding	Benign
18	55275596	G	A	G55275596A	TCF4	NM_001083962.2(TCF4):c.789+23C>T	noncoding	Benign
18	55275660	G	A	G55275660A	TCF4	NM_001083962.2(TCF4):c.748C>T:p.Gln250Ter	coding	Pathogenic
18	55275728	C	T	C55275728T	TCF4	NM_001083962.2(TCF4):c.680G>A:p.Trp227Ter	coding	Pathogenic
18	55275753	C	G	C55275753G	TCF4	NM_001083962.2(TCF4):c.656-1G>C	coding	Pathogenic
18	55275868	G	C	G55275868C	TCF4	NM_001083962.2(TCF4):c.656-116C>G	noncoding	Benign
18	55279550	C	A	C55279550A	TCF4	NM_001083962.2(TCF4):c.655+1G>T	noncoding	Pathogenic
18	55279550	C	T	C55279550T	TCF4	NM_001083962.2(TCF4):c.655+1G>A	noncoding	Pathogenic
18	55279551	C	T	C55279551T	TCF4	NM_001083962.2(TCF4):c.655G>A:p.Asp219Asn	coding	Pathogenic
18	55279554	G	A	G55279554A	TCF4	NM_001083962.2(TCF4):c.652C>T:p.Gln218Ter	coding	Pathogenic
18	55279567	G	A	G55279567A	TCF4	NM_001083962.2(TCF4):c.639C>T:p.Ser213=	coding	Benign/Likely_benign
18	55279635	T	C	T55279635C	TCF4	NM_001083962.2(TCF4):c.571A>G:p.Thr191Ala	coding	Benign
18	55279757	C	T	C55279757T	TCF4	NM_001083962.2(TCF4):c.550-101G>A	noncoding	Benign
18	55279846	G	A	G55279846A	TCF4	NM_001083962.2(TCF4):c.550-190C>T	noncoding	Benign
18	55350388	G	A	G55350388A	TCF4	NM_001083962.2(TCF4):c.520C>T:p.Arg174Ter	coding	Pathogenic
18	55350409	C	T	C55350409T	TCF4	NM_001083962.2(TCF4):c.500-1G>A	coding	Pathogenic
18	55350903	C	T	C55350903T	TCF4	NM_001083962.2(TCF4):c.470G>A:p.Arg157Gln	coding	Benign
18	55350904	G	A	G55350904A	TCF4	NM_001083962.2(TCF4):c.469C>T:p.Arg157Ter	coding	Pathogenic
18	55351017	A	G	A55351017G	TCF4	NM_001083962.2(TCF4):c.370-14T>C	noncoding	Benign
18	55403532	C	T	C55403532T	TCF4	NM_001083962.2(TCF4):c.305-14G>A	noncoding	Benign/Likely_benign
18	55403683	G	A	G55403683A	TCF4	NM_001083962.2(TCF4):c.305-165C>T	coding	Benign
18	55461054	T	C	T55461054C	TCF4	NM_001083962.2(TCF4):c.269A>G:p.Asn90Ser	coding	Benign/Likely_benign
18	55461114	T	C	T55461114C	TCF4	NM_001083962.2(TCF4):c.209A>G:p.Asn70Ser	coding	Benign
18	55461123	T	C	T55461123C	TCF4	NM_001083962.2(TCF4):c.208-8A>G	noncoding	Benign
18	55464063	T	C	T55464063C	TCF4	NM_001083962.2(TCF4):c.207+13A>G	noncoding	Benign
18	55510439	T	C	T55510439C	TCF4	NM_001083962.2(TCF4):c.146-46302A>G	noncoding	Benign
18	55510509	A	T	A55510509T	TCF4	NM_001083962.2(TCF4):c.146-46372T>A	noncoding	Benign
18	55510543	G	C	G55510543C	TCF4	NM_001083962.2(TCF4):c.146-46406C>G	noncoding	Benign
18	55510830	G	A	G55510830A	TCF4	NM_001083962.2(TCF4):c.146-46693C>T	noncoding	Benign
18	55585054	G	A	G55585054A	TCF4	NM_001083962.2(TCF4):c.145+226C>T	noncoding	Benign
18	55585355	A	G	A55585355G	TCF4	NM_001083962.2(TCF4):c.73-3T>C	noncoding	Benign
18	55585658	C	T	C55585658T	TCF4	NM_001083962.2(TCF4):c.73-306G>A	noncoding	Benign
18	55586797	G	A	G55586797A	TCF4	NM_001083962.2(TCF4):c.72+248C>T	noncoding	Benign
18	55588054	G	A	G55588054A	TCF4	NM_001083962.2(TCF4):c.-37C>T	coding	Benign
18	55588104	C	T	C55588104T	TCF4	NM_001083962.2(TCF4):c.-87G>A	coding	Benign
18	55588142	G	A	G55588142A	TCF4	NM_001083962.2(TCF4):c.-125C>T	coding	Benign
18	55588470	C	T	C55588470T	TCF4	NM_001243226.3(TCF4):c.287-1334G>A	coding	Benign
18	56614600	T	C	T56614600C	TXNL1	NM_004786.3(TXNL1):c.563-4A>G	noncoding	Benign
18	56616312	C	G	C56616312G	TXNL1	NM_004786.3(TXNL1):c.495G>C:p.Leu165=	coding	Benign
18	56685981	G	A	G56685981A	WDR7	NM_015285.2(WDR7):c.546G>A:p.Val182=	coding	Benign
18	56756579	A	G	A56756579G	WDR7	NM_015285.2(WDR7):c.1990-4A>G	noncoding	Benign
18	56779504	C	T	C56779504T	WDR7	NM_015285.2(WDR7):c.3021C>T:p.Pro1007=	coding	Benign
18	56924025	T	C	T56924025C	WDR7	NM_015285.2(WDR7):c.3630T>C:p.Thr1210=	coding	Benign
18	56935887	C	A	C56935887A	WDR7	NM_015285.2(WDR7):c.3813C>A:p.Ile1271=	coding	Benign
18	57027102	C	A	C57027102A	WDR7	NM_015285.2(WDR7):c.4368C>A:p.Ser1456=	coding	Benign
18	57436076	G	A	G57436076A	ONECUT2	NM_004852.3(ONECUT2):c.360G>A:p.Arg120=	coding	Benign
18	57476708	G	A	G57476708A	ONECUT2	NM_004852.3(ONECUT2):c.1500G>A:p.Thr500=	coding	Benign
18	57545084	G	T	G57545084T	FECH	NM_000140.4(FECH):c.*5628C>A	noncoding	Benign
18	57545124	C	T	C57545124T	FECH	NM_000140.4(FECH):c.*5588G>A	noncoding	Benign
18	57545741	T	C	T57545741C	FECH	NM_000140.4(FECH):c.*4971A>G	noncoding	Benign
18	57545826	A	C	A57545826C	FECH	NM_000140.4(FECH):c.*4886T>G	noncoding	Benign
18	57546149	C	A	C57546149A	FECH	NM_000140.4(FECH):c.*4563G>T	noncoding	Benign
18	57546249	T	C	T57546249C	FECH	NM_000140.4(FECH):c.*4463A>G	noncoding	Benign
18	57548341	A	C	A57548341C	FECH	NM_000140.4(FECH):c.*2371T>G	noncoding	Benign
18	57549090	A	G	A57549090G	FECH	NM_000140.4(FECH):c.*1622T>C	noncoding	Benign
18	57550016	G	A	G57550016A	FECH	NM_000140.4(FECH):c.*696C>T	noncoding	Benign
18	57550231	T	C	T57550231C	FECH	NM_000140.4(FECH):c.*481A>G	noncoding	Benign
18	57550290	A	T	A57550290T	FECH	NM_000140.4(FECH):c.*422T>A	noncoding	Benign
18	57550464	G	A	G57550464A	FECH	NM_000140.4(FECH):c.*248C>T	noncoding	Benign
18	57550595	G	A	G57550595A	FECH	NM_000140.4(FECH):c.*117C>T	noncoding	Benign
18	57550734	A	G	A57550734G	FECH	NM_000140.4(FECH):c.1250T>C:p.Phe417Ser	coding	Pathogenic
18	57551312	T	C	T57551312C	FECH	NM_000140.4(FECH):c.1137+3A>G	noncoding	Pathogenic
18	57551317	T	A	T57551317A	FECH	NM_000140.3(FECH):c.1078_1137del	coding	Pathogenic
18	57551367	A	C	A57551367C	FECH	NM_000140.4(FECH):c.1085T>G:p.Val362Gly	coding	Pathogenic
18	57554259	C	T	C57554259T	FECH	NM_000140.4(FECH):c.1077+1G>A	noncoding	Pathogenic
18	57554416	T	C	T57554416C	FECH	NM_000140.4(FECH):c.921A>G:p.Pro307=	coding	Benign
18	57554431	G	A	G57554431A	FECH	NM_000140.4(FECH):c.913-7C>T	noncoding	Benign
18	57554937	C	T	C57554937T	FECH	NM_000140.4(FECH):c.820G>A:p.Asp274Asn	coding	Pathogenic
18	57559151	G	C	G57559151C	FECH	NM_000140.4(FECH):c.798C>G:p.Pro266=	coding	Benign
18	57566435	A	T	A57566435T	FECH	NM_000140.4(FECH):c.598+12T>A	noncoding	Benign
18	57566446	C	A	C57566446A	FECH	NM_000140.5(FECH):c.598+1G>T	noncoding	Pathogenic
18	57566492	C	T	C57566492T	FECH	NM_000140.4(FECH):c.553G>A:p.Ala185Thr	coding	Pathogenic
18	57566531	C	T	C57566531T	FECH	NM_000140.4(FECH):c.514G>A:p.Glu172Lys	coding	Benign/Likely_benign
18	57573240	T	G	T57573240G	FECH	NM_000140.4(FECH):c.314+6A>C	noncoding	Pathogenic
18	57573244	A	C	A57573244C	FECH	NM_000140.4(FECH):c.314+2T>G	noncoding	Pathogenic
18	57573273	C	T	C57573273T	FECH	NM_000140.4(FECH):c.287G>A:p.Arg96Gln	coding	Benign
18	57580062	T	C	T57580062C	FECH	NM_000140.4(FECH):c.194+11A>G	coding	Pathogenic
18	57580104	C	A	C57580104A	FECH	NM_000140.4(FECH):c.163G>T:p.Gly55Cys	coding	Benign/Likely_benign
18	57580222	G	A	G57580222A	FECH	NM_001012515.3(FECH):c.68-23C>T	noncoding	Benign/Likely_benign
18	57586872	T	C	T57586872C	FECH	NM_000140.4(FECH):c.-252A>G	noncoding	Benign
18	57601666	G	A	G57601666A	NARS1	NM_004539.4(NARS1):c.1633C>T:p.Arg545Cys	coding	Pathogenic
18	57601699	G	A	G57601699A	NARS1	NM_004539.4(NARS1):c.1600C>T:p.Arg534Ter	coding	Pathogenic
18	57602481	G	A	G57602481A	NARS1	NM_004539.4(NARS1):c.1389C>T:p.Asp463=	coding	Benign
18	57620612	G	A	G57620612A	NARS1	NM_004539.4(NARS1):c.50C>T:p.Thr17Met	coding	Pathogenic
18	57620630	C	G	C57620630G	NARS1	NM_004539.4(NARS1):c.32G>C:p.Arg11Pro	coding	Pathogenic
18	57646548	T	C	T57646548C	ATP8B1	NM_005603.6(ATP8B1):c.*1940A>G	coding	Benign
18	57646551	A	T	A57646551T	ATP8B1	NM_005603.6(ATP8B1):c.*1937T>A	coding	Benign
18	57646765	C	T	C57646765T	ATP8B1	NM_005603.6(ATP8B1):c.*1723G>A	coding	Benign
18	57646979	T	C	T57646979C	ATP8B1	NM_005603.6(ATP8B1):c.*1509A>G	coding	Benign
18	57647234	A	G	A57647234G	ATP8B1	NM_005603.6(ATP8B1):c.*1254T>C	coding	Benign
18	57647588	C	A	C57647588A	ATP8B1	NM_005603.6(ATP8B1):c.*900G>T	coding	Benign
18	57647600	G	C	G57647600C	ATP8B1	NM_005603.6(ATP8B1):c.*888C>G	coding	Benign
18	57648477	G	A	G57648477A	ATP8B1	NM_005603.6(ATP8B1):c.*11C>T	coding	Benign
18	57648500	G	T	G57648500T	ATP8B1	NM_005603.6(ATP8B1):c.3744C>A:p.Thr1248=	coding	Benign
18	57648545	C	T	C57648545T	ATP8B1	NM_005603.6(ATP8B1):c.3699G>A:p.Pro1233=	coding	Benign
18	57648727	G	A	G57648727A	ATP8B1	NM_005603.6(ATP8B1):c.3532-15C>T	noncoding	Benign
18	57650359	C	A	C57650359A	ATP8B1	NM_005603.6(ATP8B1):c.3531+8G>T	noncoding	Benign
18	57650421	G	A	G57650421A	ATP8B1	NM_005603.6(ATP8B1):c.3477C>T:p.Pro1159=	coding	Benign
18	57650488	G	C	G57650488C	ATP8B1	NM_005603.6(ATP8B1):c.3410C>G:p.Ser1137Ter	coding	Pathogenic
18	57652738	G	T	G57652738T	ATP8B1	NM_005603.6(ATP8B1):c.3016-9C>A	noncoding	Benign
18	57654078	G	T	G57654078T	ATP8B1	NM_005603.6(ATP8B1):c.2932-3C>A	noncoding	Pathogenic
18	57655180	C	T	C57655180T	ATP8B1	NM_005603.6(ATP8B1):c.2931+14G>A	noncoding	Benign
18	57655270	C	T	C57655270T	ATP8B1	NM_005603.6(ATP8B1):c.2855G>A:p.Arg952Gln	coding	Benign
18	57655271	G	A	G57655271A	ATP8B1	NM_005603.6(ATP8B1):c.2854C>T:p.Arg952Ter	coding	Pathogenic
18	57655336	C	T	C57655336T	ATP8B1	NM_005603.6(ATP8B1):c.2789G>A:p.Arg930Gln	coding	Benign/Likely_benign
18	57661207	C	T	C57661207T	ATP8B1	NM_005603.6(ATP8B1):c.2674G>A:p.Gly892Arg	coding	Pathogenic
18	57661217	C	A	C57661217A	ATP8B1	NM_005603.6(ATP8B1):c.2664G>T:p.Thr888=	coding	Benign
18	57661281	C	T	C57661281T	ATP8B1;LOC100505549	NM_001374385.1(ATP8B1):c.2600G>A:p.Arg867His	coding	Pathogenic
18	57661282	G	A	G57661282A	ATP8B1	NM_005603.6(ATP8B1):c.2599C>T:p.Arg867Cys	coding	Pathogenic
18	57661383	C	T	C57661383T	ATP8B1	NM_005603.6(ATP8B1):c.2498G>A:p.Arg833Gln	coding	Benign
18	57661439	C	A	C57661439A	ATP8B1	NM_005603.6(ATP8B1):c.2442G>T:p.Lys814Asn	coding	Benign/Likely_benign
18	57662617	T	C	T57662617C	ATP8B1	NM_005603.6(ATP8B1):c.2286-2A>G	noncoding	Pathogenic
18	57669316	A	G	A57669316G	ATP8B1	NM_005603.6(ATP8B1):c.2097+2T>C	noncoding	Pathogenic
18	57669394	A	G	A57669394G	ATP8B1	NM_005603.6(ATP8B1):c.2021T>C:p.Met674Thr	coding	Benign/Likely_benign
18	57669422	C	A	C57669422A	ATP8B1	NM_005603.6(ATP8B1):c.1993G>T:p.Glu665Ter	coding	Pathogenic
18	57674849	G	A	G57674849A	ATP8B1	NM_005603.6(ATP8B1):c.1804C>T:p.Arg602Ter	coding	Pathogenic
18	57674854	C	T	C57674854T	ATP8B1	NM_005603.6(ATP8B1):c.1799G>A:p.Arg600Gln	coding	Pathogenic
18	57674914	C	T	C57674914T	ATP8B1	NM_005603.6(ATP8B1):c.1739G>A:p.Ser580Asn	coding	Benign/Likely_benign
18	57674924	T	C	T57674924C	ATP8B1	NM_005603.6(ATP8B1):c.1729A>G:p.Ile577Val	coding	Benign
18	57674993	C	T	C57674993T	ATP8B1	NM_005603.6(ATP8B1):c.1660G>A:p.Asp554Asn	coding	Pathogenic
18	57688361	G	A	G57688361A	ATP8B1	NM_005603.6(ATP8B1):c.1367C>T:p.Thr456Met	coding	Pathogenic
18	57691850	T	C	T57691850C	ATP8B1	NM_005603.6(ATP8B1):c.1177A>G:p.Ile393Val	coding	Benign/Likely_benign
18	57695188	C	A	C57695188A	ATP8B1	NM_005603.6(ATP8B1):c.923G>T:p.Gly308Val	coding	Pathogenic
18	57695248	A	G	A57695248G	ATP8B1	NM_005603.6(ATP8B1):c.863T>C:p.Leu288Ser	coding	Pathogenic
18	57695300	T	G	T57695300G	ATP8B1	NM_005603.6(ATP8B1):c.811A>C:p.Arg271=	coding	Benign
18	57697598	G	A	G57697598A	ATP8B1	NM_005603.6(ATP8B1):c.698+20C>T	noncoding	Benign
18	57697620	A	G	A57697620G	ATP8B1	NM_005603.6(ATP8B1):c.696T>C:p.Asp232=	coding	Benign
18	57697797	G	T	G57697797T	ATP8B1	NM_005603.6(ATP8B1):c.625C>A:p.Pro209Thr	coding	Pathogenic
18	57706490	C	T	C57706490T	ATP8B1	NM_005603.6(ATP8B1):c.279G>A:p.Ala93=	coding	Pathogenic
18	57706523	T	C	T57706523C	ATP8B1	NM_005603.6(ATP8B1):c.246A>G:p.Thr82=	coding	Benign/Likely_benign
18	57706535	G	C	G57706535C	ATP8B1	NM_005603.6(ATP8B1):c.234C>G:p.His78Gln	coding	Benign
18	57706580	T	C	T57706580C	ATP8B1	NM_005603.6(ATP8B1):c.189A>G:p.Thr63=	coding	Benign/Likely_benign
18	57731838	A	G	A57731838G	ATP8B1	NM_005603.6(ATP8B1):c.-22-9T>C	noncoding	Benign/Likely_benign
18	57803078	G	A	G57803078A	ATP8B1	NM_005603.6(ATP8B1):c.-103C>T	noncoding	Benign
18	58165782	T	C	T58165782C	NEDD4L	NM_001144967.3(NEDD4L):c.49-6T>C	noncoding	Benign
18	58165870	G	C	G58165870C	NEDD4L	NM_001144967.3(NEDD4L):c.122+9G>C	noncoding	Benign
18	58245441	A	G	A58245441G	NEDD4L	NM_001144967.3(NEDD4L):c.137A>G:p.Lys46Arg	coding	Benign
18	58324992	G	A	G58324992A	NEDD4L	NM_001144967.3(NEDD4L):c.514-4G>A	noncoding	Benign
18	58325008	G	A	G58325008A	NEDD4L	NM_001144967.3(NEDD4L):c.526G>A:p.Val176Ile	coding	Benign
18	58325029	G	A	G58325029A	NEDD4L	NM_001144967.3(NEDD4L):c.547G>A:p.Ala183Thr	coding	Benign
18	58325121	C	T	C58325121T	NEDD4L	NM_001144967.3(NEDD4L):c.639C>T:p.Asn213=	coding	Benign
18	58329012	C	T	C58329012T	NEDD4L	NM_001144967.3(NEDD4L):c.698C>T:p.Ser233Leu	coding	Benign
18	58329057	G	A	G58329057A	NEDD4L	NM_001144967.3(NEDD4L):c.743G>A:p.Arg248His	coding	Benign
18	58329095	C	T	C58329095T	NEDD4L	NM_001144967.3(NEDD4L):c.781C>T:p.Pro261Ser	coding	Benign
18	58329105	C	T	C58329105T	NEDD4L	NM_001144967.3(NEDD4L):c.791C>T:p.Ser264Leu	coding	Benign
18	58330739	C	T	C58330739T	NEDD4L	NM_001144967.3(NEDD4L):c.815C>T:p.Pro272Leu	coding	Benign
18	58330859	G	A	G58330859A	NEDD4L	NM_001144967.3(NEDD4L):c.935G>A:p.Ser312Asn	coding	Benign
18	58330861	A	C	A58330861C	NEDD4L	NM_001144967.3(NEDD4L):c.937A>C:p.Arg313=	coding	Benign
18	58330913	T	C	T58330913C	NEDD4L	NM_001144967.3(NEDD4L):c.989T>C:p.Ile330Thr	coding	Benign
18	58333863	G	A	G58333863A	NEDD4L	NM_001144967.3(NEDD4L):c.1036G>A:p.Ala346Thr	coding	Benign
18	58333891	C	T	C58333891T	NEDD4L	NM_001144967.3(NEDD4L):c.1064C>T:p.Pro355Leu	coding	Benign
18	58341109	G	A	G58341109A	NEDD4L	NM_001144967.3(NEDD4L):c.1197G>A:p.Gly399=	coding	Benign
18	58341694	C	T	C58341694T	NEDD4L	NM_001144967.3(NEDD4L):c.1274C>T:p.Ala425Val	coding	Benign
18	58341717	A	G	A58341717G	NEDD4L	NM_001144967.3(NEDD4L):c.1297A>G:p.Asn433Asp	coding	Benign
18	58341749	G	A	G58341749A	NEDD4L	NM_001144967.3(NEDD4L):c.1329G>A:p.Arg443=	coding	Benign
18	58341773	A	G	A58341773G	NEDD4L	NM_001144967.3(NEDD4L):c.1353A>G:p.Thr451=	coding	Benign
18	58341790	C	T	C58341790T	NEDD4L	NM_001144967.3(NEDD4L):c.1370C>T:p.Pro457Leu	coding	Benign
18	58343058	C	T	C58343058T	NEDD4L	NM_001144967.3(NEDD4L):c.1530C>T:p.Asn510=	coding	Benign
18	58350981	C	G	C58350981G	NEDD4L	NM_001144967.3(NEDD4L):c.1654-10C>G	noncoding	Benign
18	58366076	C	T	C58366076T	NEDD4L	NM_001144967.3(NEDD4L):c.1911C>T:p.Ser637=	coding	Benign
18	58366145	T	C	T58366145C	NEDD4L	NM_001144967.3(NEDD4L):c.1980T>C:p.Tyr660=	coding	Benign
18	58366201	A	G	A58366201G	NEDD4L	NM_001144967.3(NEDD4L):c.2036A>G:p.Tyr679Cys	coding	Pathogenic
18	58367764	G	T	G58367764T	NEDD4L	NM_001144967.3(NEDD4L):c.2082G>T:p.Gln694His	coding	Pathogenic
18	58383323	T	C	T58383323C	NEDD4L	NM_001144967.3(NEDD4L):c.2426+4T>C	noncoding	Benign
18	58387493	C	T	C58387493T	NEDD4L	NM_001144967.3(NEDD4L):c.2542C>T:p.Leu848=	coding	Benign
18	58389102	C	T	C58389102T	NEDD4L	NM_001144967.3(NEDD4L):c.2565C>T:p.Leu855=	coding	Benign
18	58389150	C	T	C58389150T	NEDD4L	NM_001144967.3(NEDD4L):c.2613C>T:p.Asn871=	coding	Benign
18	58389201	G	A	G58389201A	NEDD4L	NM_001144967.3(NEDD4L):c.2655+9G>A	noncoding	Benign
18	58390705	A	C	A58390705C	NEDD4L	NM_001144967.3(NEDD4L):c.2715A>C:p.Thr905=	coding	Benign
18	58390748	C	T	C58390748T	NEDD4L	NM_001144967.3(NEDD4L):c.2752+6C>T	noncoding	Benign
18	58391483	C	T	C58391483T	NEDD4L	NM_001144967.3(NEDD4L):c.2753-4C>T	noncoding	Benign
18	58391536	G	A	G58391536A	NEDD4L	NM_001144967.3(NEDD4L):c.2802G>A:p.Glu934=	coding	Benign
18	58396233	C	T	C58396233T	NEDD4L	NM_001144967.3(NEDD4L):c.2892C>T:p.Ala964=	coding	Benign
18	58504010	T	C	T58504010C	ALPK2	NM_052947.4(ALPK2):c.6168A>G:p.Glu2056=	coding	Benign
18	58517111	G	A	G58517111A	ALPK2	NM_052947.4(ALPK2):c.5737C>T:p.Arg1913Cys	coding	Benign
18	58535612	C	T	C58535612T	ALPK2	NM_052947.4(ALPK2):c.4575G>A:p.Glu1525=	coding	Benign
18	58580287	G	A	G58580287A	ALPK2	NM_052947.4(ALPK2):c.489C>T:p.Ser163=	coding	Benign
18	58671560	G	A	G58671560A	MALT1	NM_006785.4(MALT1):c.-84G>A	coding	Benign
18	58681226	G	T	G58681226T	MALT1	NM_006785.4(MALT1):c.266G>T:p.Ser89Ile	coding	Pathogenic
18	58700513	C	T	C58700513T	MALT1	NM_006785.4(MALT1):c.571C>T:p.Arg191Ter	coding	Pathogenic/Likely_pathogenic
18	58700591	A	G	A58700591G	MALT1	NM_006785.4(MALT1):c.649A>G:p.Arg217Gly	coding	Benign
18	58715931	A	G	A58715931G	MALT1	NM_006785.4(MALT1):c.986-4A>G	noncoding	Benign
18	58723049	G	A	G58723049A	MALT1	NM_006785.4(MALT1):c.1020G>A:p.Ala340=	coding	Benign
18	58733473	A	T	A58733473T	MALT1	NM_006785.4(MALT1):c.1299A>T:p.Pro433=	coding	Benign
18	58742000	G	C	G58742000C	MALT1	NM_006785.4(MALT1):c.1739G>C:p.Trp580Ser	coding	Pathogenic
18	58745734	A	G	A58745734G	MALT1	NM_006785.4(MALT1):c.1980A>G:p.Ser660=	coding	Benign/Likely_benign
18	58918713	G	A	G58918713A	ZNF532	NM_001375912.1(ZNF532):c.426G>A:p.Glu142=	coding	Benign
18	58918787	C	T	C58918787T	ZNF532	NM_001375912.1(ZNF532):c.500C>T:p.Ser167Leu	coding	Benign
18	58919781	C	T	C58919781T	ZNF532	NM_001375912.1(ZNF532):c.1494C>T:p.Asn498=	coding	Benign
18	59225682	G	T	G59225682T	GRP	NM_002091.5(GRP):c.330G>T:p.Ser110=	coding	Benign
18	59267258	C	T	C59267258T	RAX	NM_013435.3(RAX):c.*1746G>A	noncoding	Benign
18	59267440	A	G	A59267440G	RAX	NM_013435.3(RAX):c.*1564T>C	noncoding	Benign
18	59268595	C	T	C59268595T	RAX	NM_013435.3(RAX):c.*409G>A	noncoding	Benign
18	59268710	G	A	G59268710A	RAX	NM_013435.3(RAX):c.*294C>T	noncoding	Benign
18	59269136	G	C	G59269136C	RAX	NM_013435.3(RAX):c.909C>G:p.Tyr303Ter	coding	Pathogenic
18	59269163	T	C	T59269163C	RAX	NM_013435.3(RAX):c.882A>G:p.Gln294=	coding	Benign
18	59269435	G	T	G59269435T	RAX	NM_013435.3(RAX):c.610C>A:p.Leu204Met	coding	Benign
18	59269470	C	T	C59269470T	RAX	NM_013435.3(RAX):c.575G>A:p.Arg192Gln	coding	Pathogenic
18	59272465	G	A	G59272465A	RAX	NM_013435.3(RAX):c.439C>T:p.Gln147Ter	coding	Pathogenic
18	59272910	G	C	G59272910C	RAX	NM_013435.3(RAX):c.289+8C>G	noncoding	Benign
18	59273059	T	G	T59273059G	RAX	NM_013435.3(RAX):c.148A>C:p.Thr50Pro	coding	Benign
18	59273075	G	T	G59273075T	RAX	NM_013435.3(RAX):c.132C>A:p.Asp44Glu	coding	Benign
18	59327986	A	T	A59327986T	LMAN1	NM_005570.4(LMAN1):c.*3107T>A	noncoding	Benign
18	59328164	A	G	A59328164G	LMAN1	NM_005570.4(LMAN1):c.*2929T>C	noncoding	Benign
18	59328688	G	T	G59328688T	LMAN1	NM_005570.4(LMAN1):c.*2405C>A	noncoding	Benign
18	59328876	C	T	C59328876T	LMAN1	NM_005570.4(LMAN1):c.*2217G>A	noncoding	Benign
18	59328909	T	C	T59328909C	LMAN1	NM_005570.4(LMAN1):c.*2184A>G	noncoding	Benign
18	59329030	G	C	G59329030C	LMAN1	NM_005570.4(LMAN1):c.*2063C>G	noncoding	Benign
18	59329271	C	A	C59329271A	LMAN1	NM_005570.4(LMAN1):c.*1822G>T	noncoding	Benign
18	59329294	T	G	T59329294G	LMAN1	NM_005570.4(LMAN1):c.*1799A>C	noncoding	Benign
18	59329600	T	C	T59329600C	LMAN1	NM_005570.4(LMAN1):c.*1493A>G	noncoding	Benign
18	59330603	G	A	G59330603A	LMAN1	NM_005570.4(LMAN1):c.*490C>T	noncoding	Benign
18	59331453	C	T	C59331453T	LMAN1	NM_005570.4(LMAN1):c.1461G>A:p.Val487=	coding	Benign
18	59333071	G	A	G59333071A	LMAN1	NM_005570.4(LMAN1):c.1374+20C>T	noncoding	Benign
18	59333237	T	A	T59333237A	LMAN1	NM_005570.4(LMAN1):c.1228A>T:p.Met410Leu	coding	Benign
18	59338758	A	G	A59338758G	LMAN1	NM_005570.4(LMAN1):c.1149+2T>C	noncoding	Pathogenic
18	59338952	C	T	C59338952T	LMAN1	NM_005570.4(LMAN1):c.957G>A:p.Ala319=	coding	Benign
18	59355391	C	T	C59355391T	LMAN1	NM_005570.4(LMAN1):c.399G>A:p.Leu133=	coding	Benign
18	59355522	T	C	T59355522C	LMAN1	NM_005570.4(LMAN1):c.351A>G:p.Arg117=	coding	Benign
18	59359129	A	G	A59359129G	LMAN1	NM_005570.4(LMAN1):c.116T>C:p.Val39Ala	coding	Benign
18	59359204	C	T	C59359204T	LMAN1	NM_005570.4(LMAN1):c.41G>A:p.Arg14Gln	coding	Benign
18	59359243	A	G	A59359243G	LMAN1	NM_005570.4(LMAN1):c.2T>C:p.Met1Thr	coding	Pathogenic
18	59430963	G	T	G59430963T	CCBE1	NM_133459.4(CCBE1):c.*4945C>A	noncoding	Benign
18	59431062	C	T	C59431062T	CCBE1	NM_133459.4(CCBE1):c.*4846G>A	noncoding	Benign
18	59431112	C	T	C59431112T	CCBE1	NM_133459.4(CCBE1):c.*4796G>A	noncoding	Benign
18	59431120	A	G	A59431120G	CCBE1	NM_133459.4(CCBE1):c.*4788T>C	noncoding	Benign
18	59431159	G	A	G59431159A	CCBE1	NM_133459.4(CCBE1):c.*4749C>T	noncoding	Benign
18	59431404	C	G	C59431404G	CCBE1	NM_133459.4(CCBE1):c.*4504G>C	noncoding	Benign
18	59431510	G	T	G59431510T	CCBE1	NM_133459.4(CCBE1):c.*4398C>A	noncoding	Benign
18	59431728	T	C	T59431728C	CCBE1	NM_133459.4(CCBE1):c.*4180A>G	noncoding	Benign
18	59432375	G	T	G59432375T	CCBE1	NM_133459.4(CCBE1):c.*3533C>A	noncoding	Benign
18	59432433	C	G	C59432433G	CCBE1	NM_133459.4(CCBE1):c.*3475G>C	noncoding	Benign
18	59432746	A	G	A59432746G	CCBE1	NM_133459.4(CCBE1):c.*3162T>C	noncoding	Benign
18	59432872	G	C	G59432872C	CCBE1	NM_133459.4(CCBE1):c.*3036C>G	noncoding	Benign
18	59432930	A	T	A59432930T	CCBE1	NM_133459.4(CCBE1):c.*2978T>A	noncoding	Benign
18	59433075	G	T	G59433075T	CCBE1	NM_133459.4(CCBE1):c.*2833C>A	noncoding	Benign
18	59433083	T	C	T59433083C	CCBE1	NM_133459.4(CCBE1):c.*2825A>G	noncoding	Benign
18	59433121	A	G	A59433121G	CCBE1	NM_133459.4(CCBE1):c.*2787T>C	noncoding	Benign
18	59433150	G	A	G59433150A	CCBE1	NM_133459.4(CCBE1):c.*2758C>T	noncoding	Benign
18	59433235	C	T	C59433235T	CCBE1	NM_133459.4(CCBE1):c.*2673G>A	noncoding	Benign
18	59433536	G	A	G59433536A	CCBE1	NM_133459.4(CCBE1):c.*2372C>T	noncoding	Benign
18	59433547	C	T	C59433547T	CCBE1	NM_133459.4(CCBE1):c.*2361G>A	noncoding	Benign
18	59434211	C	G	C59434211G	CCBE1	NM_133459.4(CCBE1):c.*1697G>C	noncoding	Benign
18	59434650	G	C	G59434650C	CCBE1	NM_133459.4(CCBE1):c.*1258C>G	noncoding	Benign
18	59434868	G	A	G59434868A	CCBE1	NM_133459.4(CCBE1):c.*1040C>T	noncoding	Benign
18	59435094	A	C	A59435094C	CCBE1	NM_133459.4(CCBE1):c.*814T>G	noncoding	Benign
18	59435292	T	C	T59435292C	CCBE1	NM_133459.4(CCBE1):c.*616A>G	noncoding	Benign
18	59435754	C	T	C59435754T	CCBE1	NM_133459.4(CCBE1):c.*154G>A	noncoding	Benign
18	59435894	G	A	G59435894A	CCBE1	NM_133459.4(CCBE1):c.*14C>T	noncoding	Benign
18	59436151	T	C	T59436151C	CCBE1	NM_133459.4(CCBE1):c.988-10A>G	noncoding	Benign
18	59438119	C	G	C59438119G	CCBE1	NM_133459.4(CCBE1):c.979G>C:p.Gly327Arg	coding	Pathogenic
18	59439755	G	A	G59439755A	CCBE1	NM_133459.4(CCBE1):c.837C>T:p.Pro279=	coding	Benign
18	59447971	T	C	T59447971C	CCBE1	NM_133459.4(CCBE1):c.775+12A>G	noncoding	Benign
18	59466772	A	G	A59466772G	CCBE1	NM_133459.4(CCBE1):c.520T>C:p.Cys174Arg	coding	Pathogenic
18	59466793	G	A	G59466793A	CCBE1	NM_133459.4(CCBE1):c.499C>T:p.Arg167Trp	coding	Benign
18	59466920	A	G	A59466920G	CCBE1	NM_133459.4(CCBE1):c.401-29T>C	noncoding	Benign
18	59469568	C	G	C59469568G	CCBE1	NM_133459.4(CCBE1):c.305G>C:p.Cys102Ser	coding	Pathogenic
18	59469637	A	G	A59469637G	CCBE1	NM_133459.4(CCBE1):c.266-30T>C	noncoding	Benign
18	59469711	G	A	G59469711A	CCBE1	NM_133459.4(CCBE1):c.266-104C>T	noncoding	Benign
18	59480158	C	G	C59480158G	CCBE1	NM_133459.4(CCBE1):c.265+28G>C	noncoding	Benign
18	59480160	G	T	G59480160T	CCBE1	NM_133459.4(CCBE1):c.265+26C>A	noncoding	Benign
18	59480228	A	T	A59480228T	CCBE1	NM_133459.4(CCBE1):c.223T>A:p.Cys75Ser	coding	Pathogenic
18	59696646	C	T	C59696646T	CCBE1	NM_133459.4(CCBE1):c.195G>A:p.Glu65=	coding	Benign/Likely_benign
18	59696685	G	A	G59696685A	CCBE1	NM_133459.4(CCBE1):c.156C>T:p.Ile52=	coding	Benign
18	59697220	G	T	G59697220T	CCBE1	NM_133459.4(CCBE1):c.123C>A:p.Asp41Glu	coding	Benign
18	60371367	A	T	A60371367T	MC4R	NM_005912.3(MC4R):c.983T>A:p.Leu328Ter	coding	Pathogenic
18	60371454	G	T	G60371454T	MC4R	NM_005912.3(MC4R):c.896C>A:p.Pro299His	coding	Pathogenic
18	60371489	A	T	A60371489T	MC4R	NM_005912.3(MC4R):c.861T>A:p.Tyr287Ter	coding	Pathogenic
18	60371512	A	G	A60371512G	MC4R	NM_005912.3(MC4R):c.838T>C:p.Phe280Leu	coding	Pathogenic
18	60371538	C	T	C60371538T	MC4R	NM_005912.3(MC4R):c.812G>A:p.Cys271Tyr	coding	Pathogenic
18	60371539	A	G	A60371539G	MC4R	NM_005912.3(MC4R):c.811T>C:p.Cys271Arg	coding	Pathogenic
18	60371599	T	G	T60371599G	MC4R	NM_005912.3(MC4R):c.751A>C:p.Ile251Leu	coding	Benign/Likely_benign
18	60371694	G	A	G60371694A	MC4R	NM_005912.3(MC4R):c.656C>T:p.Ala219Val	coding	Pathogenic
18	60371756	G	A	G60371756A	MC4R	NM_005912.3(MC4R):c.594C>T:p.Ile198=	coding	Benign
18	60371808	C	T	C60371808T	MC4R	NM_005912.3(MC4R):c.542G>A:p.Gly181Asp	coding	Pathogenic
18	60371842	T	C	T60371842C	MC4R	NM_005912.3(MC4R):c.508A>G:p.Ile170Val	coding	Pathogenic
18	60371854	C	T	C60371854T	MC4R	NM_005912.3(MC4R):c.496G>A:p.Val166Ile	coding	Pathogenic
18	60371856	C	T	C60371856T	MC4R	NM_005912.3(MC4R):c.494G>A:p.Arg165Gln	coding	Pathogenic
18	60371882	C	T	C60371882T	MC4R	NM_005912.3(MC4R):c.468G>A:p.Gln156=	coding	Benign/Likely_benign
18	60371884	G	A	G60371884A	MC4R	NM_005912.3(MC4R):c.466C>T:p.Gln156Ter	coding	Pathogenic/Likely_pathogenic
18	60371943	G	A	G60371943A	MC4R	NM_005912.3(MC4R):c.407C>T:p.Ser136Phe	coding	Pathogenic
18	60372043	C	T	C60372043T	MC4R	NM_005912.3(MC4R):c.307G>A:p.Val103Ile	coding	Benign
18	60372045	A	C	A60372045C	MC4R	NM_005912.3(MC4R):c.305T>G:p.Ile102Ser	coding	Pathogenic
18	60372061	T	C	T60372061C	MC4R	NM_005912.3(MC4R):c.289A>G:p.Asn97Asp	coding	Pathogenic
18	60372144	A	C	A60372144C	MC4R	NM_005912.3(MC4R):c.206T>G:p.Ile69Arg	coding	Pathogenic
18	60372165	T	C	T60372165C	MC4R	NM_005912.3(MC4R):c.185A>G:p.Asn62Ser	coding	Pathogenic
18	60372169	C	T	C60372169T	MC4R	NM_005912.3(MC4R):c.181G>A:p.Glu61Lys	coding	Pathogenic/Likely_pathogenic
18	60372178	T	A	T60372178A	MC4R	NM_005912.3(MC4R):c.172A>T:p.Ser58Cys	coding	Pathogenic
18	60372202	C	T	C60372202T	MC4R	NM_005912.3(MC4R):c.148G>A:p.Val50Met	coding	Pathogenic
18	60372245	G	T	G60372245T	MC4R	NM_005912.2(MC4R):c.105C>A:p.Tyr35Ter	coding	Pathogenic
18	60372527	T	G	T60372527G	MC4R	NM_005912.3(MC4R):c.-178A>C	noncoding	Benign
18	60372565	G	A	G60372565A	MC4R	NM_005912.3(MC4R):c.-216C>T	noncoding	Benign
18	61490670	A	G	A61490670G	CDH20	NM_031891.4(CDH20):c.117A>G:p.Pro39=	coding	Benign
18	62045901	C	A	C62045901A	PIGN	NM_176787.5(PIGN):c.2751G>T:p.Thr917=	coding	Benign/Likely_benign
18	62045940	A	C	A62045940C	PIGN	NM_176787.5(PIGN):c.2712T>G:p.Phe904Leu	coding	Benign
18	62072672	C	A	C62072672A	PIGN	NM_176787.5(PIGN):c.2672+1G>T	noncoding	Pathogenic
18	62088786	A	T	A62088786T	PIGN	NM_176787.5(PIGN):c.2340T>A:p.Tyr780Ter	coding	Pathogenic
18	62088843	C	G	C62088843G	PIGN	NM_176787.5(PIGN):c.2284-1G>C	coding	Pathogenic/Likely_pathogenic
18	62090521	T	C	T62090521C	PIGN	NM_176787.5(PIGN):c.2238A>G:p.Ile746Met	coding	Benign/Likely_benign
18	62095902	C	T	C62095902T	PIGN	NM_176787.5(PIGN):c.2126G>A:p.Arg709Gln	coding	Pathogenic
18	62101130	T	C	T62101130C	PIGN	NM_176787.5(PIGN):c.2022A>G:p.Leu674=	coding	Benign
18	62101142	A	G	A62101142G	PIGN	NM_176787.5(PIGN):c.2010T>C:p.Thr670=	coding	Benign
18	62102796	G	A	G62102796A	PIGN	NM_176787.5(PIGN):c.1966C>T:p.Gln656Ter	coding	Pathogenic
18	62102800	C	T	C62102800T	PIGN	NM_176787.5(PIGN):c.1962G>A:p.Leu654=	coding	Benign
18	62106797	G	A	G62106797A	PIGN	NM_176787.5(PIGN):c.1759C>T:p.Arg587Ter	coding	Pathogenic
18	62106804	C	T	C62106804T	PIGN	NM_176787.5(PIGN):c.1752G>A:p.Leu584=	coding	Benign
18	62106985	C	G	C62106985G	PIGN	NM_176787.5(PIGN):c.1674+1G>C	noncoding	Pathogenic
18	62107043	A	G	A62107043G	PIGN	NM_176787.5(PIGN):c.1617T>C:p.Tyr539=	coding	Benign/Likely_benign
18	62109920	T	C	T62109920C	PIGN	NM_176787.5(PIGN):c.1488A>G:p.Ala496=	coding	Benign
18	62113160	T	A	T62113160A	PIGN	NM_176787.5(PIGN):c.1408A>T:p.Ile470Leu	coding	Benign
18	62113191	A	G	A62113191G	PIGN	NM_176787.5(PIGN):c.1377T>C:p.Ser459=	coding	Benign
18	62114567	A	G	A62114567G	PIGN	NM_176787.5(PIGN):c.1245T>C:p.Asp415=	coding	Benign
18	62114623	T	A	T62114623A	PIGN	NM_176787.5(PIGN):c.1189A>T:p.Lys397Ter	coding	Pathogenic
18	62138997	G	A	G62138997A	PIGN	NM_176787.5(PIGN):c.1102C>T:p.Leu368Phe	coding	Benign/Likely_benign
18	62140447	A	C	A62140447C	PIGN	NM_176787.5(PIGN):c.996T>G:p.Ile332Met	coding	Pathogenic/Likely_pathogenic
18	62143306	C	T	C62143306T	PIGN	NM_176787.5(PIGN):c.963G>A:p.Gln321=	coding	Pathogenic
18	62143330	A	G	A62143330G	PIGN	NM_176787.5(PIGN):c.939T>C:p.Asn313=	coding	Benign
18	62143337	A	C	A62143337C	PIGN	NM_176787.5(PIGN):c.932T>G:p.Leu311Trp	coding	Pathogenic/Likely_pathogenic
18	62146023	A	G	A62146023G	PIGN	NM_176787.5(PIGN):c.808T>C:p.Ser270Pro	coding	Pathogenic
18	62146032	A	T	A62146032T	PIGN	NM_176787.5(PIGN):c.806-7T>A	noncoding	Benign
18	62147021	T	A	T62147021A	PIGN	NM_176787.5(PIGN):c.755A>T:p.Asp252Val	coding	Pathogenic
18	62147035	G	A	G62147035A	PIGN	NM_176787.5(PIGN):c.741C>T:p.His247=	coding	Benign
18	62147082	T	A	T62147082A	PIGN	NM_176787.5(PIGN):c.694A>T:p.Lys232Ter	coding	Pathogenic
18	62147091	G	C	G62147091C	PIGN	NM_176787.5(PIGN):c.685C>G:p.His229Asp	coding	Benign
18	62148227	G	A	G62148227A	PIGN	NM_176787.5(PIGN):c.661C>T:p.Arg221Ter	coding	Pathogenic
18	62154566	C	T	C62154566T	PIGN	NM_176787.5(PIGN):c.528G>A:p.Thr176=	coding	Benign/Likely_benign
18	62154589	G	A	G62154589A	PIGN	NM_176787.5(PIGN):c.505C>T:p.Gln169Ter	coding	Pathogenic
18	62154610	T	C	T62154610C	PIGN	NM_176787.5(PIGN):c.484A>G:p.Lys162Glu	coding	Benign
18	62157721	A	G	A62157721G	PIGN	NM_176787.5(PIGN):c.309T>C:p.Ala103=	coding	Benign
18	62157746	C	T	C62157746T	PIGN	NM_176787.5(PIGN):c.284G>A:p.Arg95Gln	coding	Pathogenic/Likely_pathogenic
18	62161141	C	T	C62161141T	PIGN	NM_176787.5(PIGN):c.213G>A:p.Pro71=	coding	Benign
18	62161173	C	A	C62161173A	PIGN	NM_176787.5(PIGN):c.181G>T:p.Glu61Ter	coding	Pathogenic
18	62161187	G	A	G62161187A	PIGN	NM_176787.5(PIGN):c.167C>T:p.Ala56Val	coding	Benign
18	62161191	G	A	G62161191A	PIGN	NM_176787.5(PIGN):c.163C>T:p.Arg55Ter	coding	Pathogenic
18	62228347	A	G	A62228347G	RELCH	NM_001346231.2(RELCH):c.1197A>G:p.Ala399=	coding	Benign
18	62325314	G	A	G62325314A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.-39G>A	noncoding	Benign/Likely_benign
18	62325344	T	C	T62325344C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.-9T>C	noncoding	Benign/Likely_benign
18	62325358	C	G	C62325358G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.6C>G:p.Ala2=	coding	Benign
18	62325432	G	A	G62325432A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.75+5G>A	noncoding	Benign/Likely_benign
18	62348249	G	C	G62348249C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.157G>C:p.Gly53Arg	coding	Pathogenic
18	62354386	C	T	C62354386T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.284-5C>T	noncoding	Benign/Likely_benign
18	62354434	C	T	C62354434T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.327C>T:p.Pro109=	coding	Benign/Likely_benign
18	62354528	C	T	C62354528T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.421C>T:p.His141Tyr	coding	Benign/Likely_benign
18	62358328	A	G	A62358328G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.508A>G:p.Arg170Gly	coding	Pathogenic
18	62359916	T	A	T62359916A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.522-39T>A	noncoding	Benign
18	62359938	C	T	C62359938T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.522-17C>T	noncoding	Benign
18	62359956	T	C	T62359956C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.523T>C:p.Cys175Arg	coding	Pathogenic
18	62360003	C	T	C62360003T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.570C>T:p.Ser190=	coding	Benign/Likely_benign
18	62360008	C	T	C62360008T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.575C>T:p.Ala192Val	coding	Benign/Likely_benign
18	62361688	G	A	G62361688A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.625G>A:p.Val209Ile	coding	Benign
18	62361726	G	A	G62361726A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.663G>A:p.Ala221=	coding	Benign
18	62361793	G	T	G62361793T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.730G>T:p.Ala244Ser	coding	Pathogenic
18	62368850	A	G	A62368850G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.933A>G:p.Thr311=	coding	Benign/Likely_benign
18	62369265	C	T	C62369265T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1348C>T:p.Arg450Trp	coding	Benign/Likely_benign
18	62369298	G	A	G62369298A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1381G>A:p.Val461Met	coding	Benign
18	62369314	G	A	G62369314A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1397G>A:p.Arg466His	coding	Benign/Likely_benign
18	62369436	G	A	G62369436A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1519G>A:p.Ala507Thr	coding	Benign/Likely_benign
18	62384708	C	T	C62384708T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1568-43C>T	noncoding	Benign
18	62384709	G	T	G62384709T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1568-42G>T	noncoding	Benign
18	62384827	G	C	G62384827C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1644G>C:p.Val548=	coding	Benign
18	62386303	G	C	G62386303C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1269G>C	noncoding	Benign
18	62386658	G	C	G62386658C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1624G>C	noncoding	Benign
18	62386772	C	T	C62386772T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1738C>T	noncoding	Benign/Likely_benign
18	62386844	G	C	G62386844C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1810G>C	noncoding	Benign
18	62386947	A	G	A62386947G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*1913A>G	noncoding	Benign
18	62387207	A	T	A62387207T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*2173A>T	noncoding	Benign
18	62387524	A	G	A62387524G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*2490A>G	noncoding	Benign
18	62387571	G	A	G62387571A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*2537G>A	noncoding	Benign
18	62387624	A	C	A62387624C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.*2590A>C	noncoding	Benign
18	62716274	C	T	C62716274T	PHLPP1	NM_194449.4(PHLPP1):c.591C>T:p.His197=	coding	Benign
18	62716554	T	G	T62716554G	PHLPP1	NM_194449.4(PHLPP1):c.871T>G:p.Phe291Val	coding	Benign
18	62979347	G	T	G62979347T	PHLPP1	NM_194449.4(PHLPP1):c.5070G>T:p.Pro1690=	coding	Benign
18	63335257	C	T	C63335257T	KDSR	NM_002035.4(KDSR):c.879G>A:p.Gln293=	coding	Pathogenic
18	63338803	G	A	G63338803A	KDSR	NM_002035.4(KDSR):c.774C>T:p.Ala258=	coding	Benign
18	63350940	T	A	T63350940A	KDSR	NM_002035.4(KDSR):c.557A>T:p.Tyr186Phe	coding	Pathogenic
18	63355565	T	G	T63355565G	KDSR	NM_002035.4(KDSR):c.256-2A>C	noncoding	Pathogenic
18	63589679	G	A	G63589679A	SERPINB13	NM_012397.4(SERPINB13):c.189G>A:p.Thr63=	coding	Benign
18	63655746	C	T	C63655746T	SERPINB3	NM_006919.3(SERPINB3):c.1084G>A:p.Glu362Lys	coding	Benign
18	63655764	G	A	G63655764A	SERPINB3	NM_006919.3(SERPINB3):c.1066C>T:p.Pro356Ser	coding	Benign
18	63798603	G	A	G63798603A	SERPINB7	NM_003784.4(SERPINB7):c.455-1G>A	noncoding	Pathogenic
18	63804288	C	T	C63804288T	SERPINB7	NM_003784.4(SERPINB7):c.796C>T:p.Arg266Ter	coding	Pathogenic
18	63895334	G	A	G63895334A	SERPINB2	NM_002575.3(SERPINB2):c.239G>A:p.Gly80Glu	coding	Benign
18	63895374	G	A	G63895374A	SERPINB2	NM_002575.3(SERPINB2):c.279G>A:p.Ala93=	coding	Benign
18	63897207	G	A	G63897207A	SERPINB2	NM_002575.3(SERPINB2):c.405G>A:p.Ala135=	coding	Benign
18	63901736	G	A	G63901736A	SERPINB2	NM_002575.3(SERPINB2):c.536-4G>A	noncoding	Benign
18	63902526	G	A	G63902526A	SERPINB2	NM_002575.3(SERPINB2):c.801G>A:p.Leu267=	coding	Benign
18	63903178	G	C	G63903178C	SERPINB2	NM_002575.3(SERPINB2):c.1121G>C:p.Gly374Ala	coding	Benign
18	63978310	T	C	T63978310C	SERPINB8	NM_002640.4(SERPINB8):c.2T>C:p.Met1Thr	coding	Pathogenic
18	63978389	C	T	C63978389T	SERPINB8	NM_002640.4(SERPINB8):c.81C>T:p.Asn27=	coding	Benign
18	63987003	C	T	C63987003T	SERPINB8	NM_002640.4(SERPINB8):c.850C>T:p.Arg284Ter	coding	Pathogenic/Likely_pathogenic
18	65762848	G	A	G65762848A	CDH7	NM_004361.5(CDH7):c.6G>A:p.Lys2=	coding	Benign
18	65762893	T	A	T65762893A	CDH7	NM_004361.5(CDH7):c.51T>A:p.Leu17=	coding	Benign
18	65762926	A	G	A65762926G	CDH7	NM_004361.5(CDH7):c.84A>G:p.Glu28=	coding	Benign
18	65809757	C	T	C65809757T	CDH7	NM_004361.5(CDH7):c.264C>T:p.Gly88=	coding	Benign
18	65809871	T	C	T65809871C	CDH7	NM_004361.5(CDH7):c.378T>C:p.Asp126=	coding	Benign
18	65809982	C	G	C65809982G	CDH7	NM_004361.5(CDH7):c.489C>G:p.Pro163=	coding	Benign
18	65814579	G	A	G65814579A	CDH7	NM_004361.5(CDH7):c.600G>A:p.Pro200=	coding	Benign
18	65862722	G	A	G65862722A	CDH7	NM_004361.5(CDH7):c.1669G>A:p.Val557Ile	coding	Benign
18	66509149	C	T	C66509149T	CDH19	NM_021153.4(CDH19):c.1674G>A:p.Pro558=	coding	Benign
18	66568640	G	A	G66568640A	CDH19	NM_021153.4(CDH19):c.266C>T:p.Thr89Ile	coding	Benign
18	67511785	G	A	G67511785A	DSEL	NM_032160.3(DSEL):c.2824C>T:p.Pro942Ser	coding	Benign
18	68836841	C	T	C68836841T	CCDC102B	NM_024781.3(CCDC102B):c.78C>T:p.Arg26=	coding	Benign
18	68838809	C	G	C68838809G	CCDC102B	NM_024781.3(CCDC102B):c.710C>G:p.Thr237Arg	coding	Benign
18	68897237	G	A	G68897237A	CCDC102B	NM_024781.3(CCDC102B):c.1072G>A:p.Glu358Lys	coding	Benign
18	68897274	A	G	A68897274G	CCDC102B	NM_024781.3(CCDC102B):c.1109A>G:p.Glu370Gly	coding	Benign
18	69010945	C	A	C69010945A	CCDC102B	NM_024781.3(CCDC102B):c.1275C>A:p.Asn425Lys	coding	Benign
18	70004196	A	G	A70004196G	RTTN	NM_173630.4(RTTN):c.6636T>C:p.Tyr2212=	coding	Benign
18	70004509	T	C	T70004509C	RTTN	NM_173630.4(RTTN):c.6596-273A>G	noncoding	Benign
18	70004903	T	C	T70004903C	RTTN	NM_173630.4(RTTN):c.6595+295A>G	noncoding	Benign
18	70017411	A	G	A70017411G	RTTN	NM_173630.4(RTTN):c.6417T>C:p.Ala2139=	coding	Benign
18	70020624	T	C	T70020624C	RTTN	NM_173630.4(RTTN):c.6144A>G:p.Val2048=	coding	Benign
18	70020730	C	A	C70020730A	RTTN	NM_173630.4(RTTN):c.6038G>T:p.Cys2013Phe	coding	Benign/Likely_benign
18	70020753	G	A	G70020753A	RTTN	NM_173630.4(RTTN):c.6015C>T:p.Ala2005=	coding	Benign
18	70020777	A	G	A70020777G	RTTN	NM_173630.4(RTTN):c.5991T>C:p.Pro1997=	coding	Benign
18	70028797	T	C	T70028797C	RTTN	NM_173630.4(RTTN):c.5750A>G:p.Asp1917Gly	coding	Pathogenic/Likely_pathogenic
18	70029999	C	A	C70029999A	RTTN	NM_173630.4(RTTN):c.5745+13G>T	noncoding	Benign
18	70030114	A	T	A70030114T	RTTN	NM_173630.4(RTTN):c.5648-5T>A	noncoding	Pathogenic
18	70047955	C	A	C70047955A	RTTN	NM_173630.4(RTTN):c.5541+16G>T	noncoding	Benign
18	70051415	C	G	C70051415G	RTTN	NM_173630.4(RTTN):c.5319G>C:p.Ala1773=	coding	Benign
18	70051452	A	G	A70051452G	RTTN	NM_173630.4(RTTN):c.5282T>C:p.Phe1761Ser	coding	Benign
18	70051454	C	T	C70051454T	RTTN	NM_173630.4(RTTN):c.5280G>A:p.Pro1760=	coding	Benign
18	70051509	T	C	T70051509C	RTTN	NM_173630.4(RTTN):c.5225A>G:p.His1742Arg	coding	Benign
18	70051552	T	C	T70051552C	RTTN	NM_173630.4(RTTN):c.5186-4A>G	noncoding	Benign
18	70054130	C	T	C70054130T	RTTN	NM_173630.4(RTTN):c.5185+1G>A	noncoding	Pathogenic
18	70054173	T	C	T70054173C	RTTN	NM_173630.4(RTTN):c.5143A>G:p.Asn1715Asp	coding	Benign/Likely_benign
18	70054256	G	C	G70054256C	RTTN	NM_173630.4(RTTN):c.5060C>G:p.Ser1687Cys	coding	Benign
18	70057778	C	T	C70057778T	RTTN	NM_173630.4(RTTN):c.4995G>A:p.Leu1665=	coding	Benign
18	70057781	C	G	C70057781G	RTTN	NM_173630.4(RTTN):c.4992G>C:p.Leu1664=	coding	Benign
18	70059843	C	T	C70059843T	RTTN	NM_173630.4(RTTN):c.4940+7G>A	noncoding	Benign
18	70059901	C	G	C70059901G	RTTN	NM_173630.4(RTTN):c.4889G>C:p.Arg1630Thr	coding	Benign
18	70059940	A	G	A70059940G	RTTN	NM_173630.4(RTTN):c.4850T>C:p.Met1617Thr	coding	Benign
18	70060047	T	C	T70060047C	RTTN	NM_173630.4(RTTN):c.4748-5A>G	noncoding	Benign
18	70060049	T	C	T70060049C	RTTN	NM_173630.4(RTTN):c.4748-7A>G	noncoding	Benign/Likely_benign
18	70060112	T	C	T70060112C	RTTN	NM_173630.4(RTTN):c.4748-70A>G	noncoding	Benign
18	70060252	A	T	A70060252T	RTTN	NM_173630.4(RTTN):c.4748-210T>A	noncoding	Benign
18	70074254	G	C	G70074254C	RTTN	NM_173630.4(RTTN):c.4565-260C>G	noncoding	Benign
18	70086679	T	C	T70086679C	RTTN	NM_173630.4(RTTN):c.4308A>G:p.Ala1436=	coding	Benign
18	70109639	C	T	C70109639T	RTTN	NM_173630.4(RTTN):c.3762G>A:p.Ala1254=	coding	Benign
18	70109696	G	T	G70109696T	RTTN	NM_173630.4(RTTN):c.3705C>A:p.Tyr1235Ter	coding	Pathogenic
18	70114547	T	C	T70114547C	RTTN	NM_173630.4(RTTN):c.3581A>G:p.Glu1194Gly	coding	Benign/Likely_benign
18	70121363	T	C	T70121363C	RTTN	NM_173630.4(RTTN):c.3528+193A>G	noncoding	Benign
18	70127564	C	T	C70127564T	RTTN	NM_173630.4(RTTN):c.3321G>A:p.Lys1107=	coding	Benign/Likely_benign
18	70128498	G	A	G70128498A	RTTN	NM_173630.4(RTTN):c.3003C>T:p.Tyr1001=	coding	Benign/Likely_benign
18	70134474	T	C	T70134474C	RTTN	NM_173630.4(RTTN):c.2953A>G:p.Arg985Gly	coding	Pathogenic
18	70134550	T	C	T70134550C	RTTN	NM_173630.4(RTTN):c.2886-9A>G	noncoding	Benign
18	70135213	T	C	T70135213C	RTTN	NM_173630.4(RTTN):c.2856A>G:p.Leu952=	coding	Benign
18	70135254	T	C	T70135254C	RTTN	NM_173630.4(RTTN):c.2815A>G:p.Ser939Gly	coding	Benign
18	70135273	T	A	T70135273A	RTTN	NM_173630.4(RTTN):c.2796A>T:p.Leu932Phe	coding	Pathogenic
18	70139634	G	T	G70139634T	RTTN	NM_173630.4(RTTN):c.2753C>A:p.Ser918Ter	coding	Pathogenic
18	70145627	T	C	T70145627C	RTTN	NM_173630.4(RTTN):c.2466A>G:p.Arg822=	coding	Benign/Likely_benign
18	70150601	G	A	G70150601A	RTTN	NM_173630.4(RTTN):c.2055+7C>T	noncoding	Benign
18	70166059	C	T	C70166059T	RTTN	NM_173630.4(RTTN):c.1929+3G>A	noncoding	Benign/Likely_benign
18	70166070	T	C	T70166070C	RTTN	NM_173630.4(RTTN):c.1921A>G:p.Ile641Val	coding	Benign
18	70166149	T	C	T70166149C	RTTN	NM_173630.4(RTTN):c.1842A>G:p.Glu614=	coding	Benign
18	70168879	G	T	G70168879T	RTTN	NM_173630.4(RTTN):c.1665C>A:p.Asn555Lys	coding	Benign
18	70176693	C	T	C70176693T	RTTN	NM_173630.4(RTTN):c.1458G>A:p.Thr486=	coding	Benign/Likely_benign
18	70190242	T	A	T70190242A	RTTN	NM_173630.4(RTTN):c.1189+296A>T	noncoding	Benign
18	70190723	C	A	C70190723A	RTTN	NM_173630.4(RTTN):c.1008-4G>T	noncoding	Benign
18	70196509	T	C	T70196509C	RTTN	NM_173630.4(RTTN):c.833A>G:p.Asn278Ser	coding	Benign
18	70196537	A	G	A70196537G	RTTN	NM_173630.4(RTTN):c.805T>C:p.Phe269Leu	coding	Benign
18	70196608	T	C	T70196608C	RTTN	NM_173630.4(RTTN):c.734A>G:p.Lys245Arg	coding	Benign
18	70196657	A	C	A70196657C	RTTN	NM_173630.4(RTTN):c.694-9T>G	noncoding	Benign/Likely_benign
18	70196667	G	A	G70196667A	RTTN	NM_173630.4(RTTN):c.694-19C>T	noncoding	Benign
18	70199399	C	T	C70199399T	RTTN	NM_173630.4(RTTN):c.578+15G>A	noncoding	Benign
18	70204079	G	A	G70204079A	RTTN	NM_173630.4(RTTN):c.397+7C>T	noncoding	Benign
18	70204107	A	C	A70204107C	RTTN	NM_173630.4(RTTN):c.376T>G:p.Ser126Ala	coding	Benign
18	70204256	G	A	G70204256A	RTTN	NM_173630.4(RTTN):c.227C>T:p.Pro76Leu	coding	Benign
18	70204275	A	G	A70204275G	RTTN	NM_173630.4(RTTN):c.220-12T>C	noncoding	Benign
18	70205164	C	T	C70205164T	RTTN	NM_173630.4(RTTN):c.183G>A:p.Lys61=	coding	Benign/Likely_benign
18	70205318	G	A	G70205318A	RTTN	NM_173630.4(RTTN):c.32-3C>T	noncoding	Benign
18	70205677	A	C	A70205677C	RTTN	NM_173630.4(RTTN):c.-19T>G	noncoding	Benign
18	70205765	G	A	G70205765A	RTTN	NC_000018.10:g.70205765G>A	noncoding	Benign
18	70324857	C	T	C70324857T	SOCS6	NM_004232.4(SOCS6):c.189C>T:p.Gly63=	coding	Benign
18	72750143	G	C	G72750143C	NETO1	NM_138966.5(NETO1):c.1460C>G:p.Ala487Gly	coding	Benign
18	72865236	C	T	C72865236T	NETO1	NM_138966.5(NETO1):c.34G>A:p.Ala12Thr	coding	Benign
18	74073539	G	A	G74073539A	FBXO15	NM_001142958.2(FBXO15):c.1455C>T:p.Thr485=	coding	Benign
18	74263479	T	C	T74263479C	CYB5A	NM_148923.4(CYB5A):c.130-2A>G	noncoding	Pathogenic
18	74501372	C	T	C74501372T	CNDP2	NM_018235.3(CNDP2):c.104C>T:p.Pro35Leu	coding	Benign
18	74518941	C	A	C74518941A	CNDP2	NM_018235.3(CNDP2):c.1211-8C>A	noncoding	Benign
18	74567390	C	T	C74567390T	CNDP1	NM_032649.6(CNDP1):c.713C>T:p.Ala238Val	coding	Benign
18	74578223	G	A	G74578223A	CNDP1	NM_032649.6(CNDP1):c.1063G>A:p.Ala355Thr	coding	Benign
18	74580211	C	T	C74580211T	CNDP1	NM_032649.6(CNDP1):c.1249C>T:p.Pro417Ser	coding	Benign
18	74580262	A	G	A74580262G	CNDP1	NM_032649.6(CNDP1):c.1300A>G:p.Ile434Val	coding	Benign
18	74583647	G	T	G74583647T	CNDP1	NM_032649.6(CNDP1):c.1396G>T:p.Val466Leu	coding	Benign
18	74631200	A	G	A74631200G	ZNF407	NM_017757.2(ZNF407):c.181A>G:p.Ser61Gly	coding	Benign
18	74631446	G	T	G74631446T	ZNF407	NM_017757.2(ZNF407):c.427G>T:p.Val143Phe	coding	Benign
18	74631509	A	G	A74631509G	ZNF407	NM_017757.2(ZNF407):c.490A>G:p.Arg164Gly	coding	Benign/Likely_benign
18	74632046	G	A	G74632046A	ZNF407	NM_017757.2(ZNF407):c.1027G>A:p.Glu343Lys	coding	Benign
18	74632135	T	C	T74632135C	ZNF407	NM_017757.2(ZNF407):c.1116T>C:p.Ala372=	coding	Benign/Likely_benign
18	74632152	A	G	A74632152G	ZNF407	NM_017757.2(ZNF407):c.1133A>G:p.Gln378Arg	coding	Benign
18	74632237	C	T	C74632237T	ZNF407	NM_017757.2(ZNF407):c.1218C>T:p.His406=	coding	Benign
18	74632254	C	T	C74632254T	ZNF407	NM_017757.2(ZNF407):c.1235C>T:p.Ser412Leu	coding	Benign
18	74632540	T	G	T74632540G	ZNF407	NM_017757.2(ZNF407):c.1521T>G:p.Arg507=	coding	Benign
18	74632542	C	T	C74632542T	ZNF407	NM_017757.2(ZNF407):c.1523C>T:p.Pro508Leu	coding	Benign
18	74632927	C	T	C74632927T	ZNF407	NM_017757.2(ZNF407):c.1908C>T:p.Thr636=	coding	Benign/Likely_benign
18	74633569	G	A	G74633569A	ZNF407	NM_017757.2(ZNF407):c.2550G>A:p.Arg850=	coding	Benign
18	74634078	T	G	T74634078G	ZNF407	NM_017757.2(ZNF407):c.3059T>G:p.Leu1020Trp	coding	Benign
18	74634094	T	C	T74634094C	ZNF407	NM_017757.2(ZNF407):c.3075T>C:p.Ser1025=	coding	Benign
18	74634538	C	G	C74634538G	ZNF407	NM_017757.2(ZNF407):c.3519C>G:p.Val1173=	coding	Benign
18	74634694	G	A	G74634694A	ZNF407	NM_017757.2(ZNF407):c.3675G>A:p.Glu1225=	coding	Benign
18	74634745	T	C	T74634745C	ZNF407	NM_017757.2(ZNF407):c.3726T>C:p.Gly1242=	coding	Benign
18	74634795	C	T	C74634795T	ZNF407	NM_017757.2(ZNF407):c.3776C>T:p.Ser1259Leu	coding	Benign
18	74635125	G	A	G74635125A	ZNF407	NM_017757.2(ZNF407):c.4106G>A:p.Gly1369Asp	coding	Benign
18	74635297	G	A	G74635297A	ZNF407	NM_017757.2(ZNF407):c.4278G>A:p.Leu1426=	coding	Benign/Likely_benign
18	74635526	T	C	T74635526C	ZNF407	NM_017757.2(ZNF407):c.4507T>C:p.Leu1503=	coding	Benign
18	74635591	T	G	T74635591G	ZNF407	NM_017757.2(ZNF407):c.4572T>G:p.Thr1524=	coding	Benign
18	74781440	A	C	A74781440C	ZNF407	NM_017757.2(ZNF407):c.4815A>C:p.Val1605=	coding	Benign
18	75063226	C	T	C75063226T	ZNF407	NM_017757.2(ZNF407):c.5505C>T:p.Thr1835=	coding	Benign
18	75063397	G	T	G75063397T	ZNF407	NM_017757.2(ZNF407):c.5676G>T:p.Thr1892=	coding	Benign
18	75063686	C	T	C75063686T	ZNF407	NM_017757.2(ZNF407):c.5965C>T:p.Leu1989=	coding	Benign
18	75063728	G	A	G75063728A	ZNF407	NM_017757.2(ZNF407):c.6007G>A:p.Glu2003Lys	coding	Benign/Likely_benign
18	75063763	C	T	C75063763T	ZNF407	NM_017757.2(ZNF407):c.6042C>T:p.Pro2014=	coding	Benign
18	75063790	G	T	G75063790T	ZNF407	NM_017757.2(ZNF407):c.6069G>T:p.Leu2023=	coding	Benign/Likely_benign
18	75063821	G	A	G75063821A	ZNF407	NM_017757.2(ZNF407):c.6100G>A:p.Asp2034Asn	coding	Benign
18	75063970	C	T	C75063970T	ZNF407	NM_017757.2(ZNF407):c.6249C>T:p.Val2083=	coding	Benign
18	75064000	G	A	G75064000A	ZNF407	NM_017757.2(ZNF407):c.6279G>A:p.Ala2093=	coding	Benign
18	75064327	C	T	C75064327T	ZNF407	NM_017757.2(ZNF407):c.6606C>T:p.Ala2202=	coding	Benign
18	75286265	G	A	G75286265A	TSHZ1	NM_005786.6(TSHZ1):c.723G>A:p.Trp241Ter	coding	Pathogenic
18	75288221	C	T	C75288221T	TSHZ1	NM_005786.6(TSHZ1):c.2679C>T:p.Thr893=	coding	Benign
18	76441302	G	A	G76441302A	ZNF516	NM_014643.4(ZNF516):c.1753C>T:p.Leu585=	coding	Benign
18	76442185	G	A	G76442185A	ZNF516	NM_014643.4(ZNF516):c.870C>T:p.Phe290=	coding	Benign
18	76442758	C	T	C76442758T	ZNF516	NM_014643.4(ZNF516):c.297G>A:p.Glu99=	coding	Benign
18	76880212	C	A	C76880212A	ZNF236	NM_007345.3(ZNF236):c.1078C>A:p.Gln360Lys	coding	Benign
18	76881454	G	A	G76881454A	ZNF236	NM_007345.3(ZNF236):c.1353G>A:p.Pro451=	coding	Benign
18	76895152	C	T	C76895152T	ZNF236	NM_007345.3(ZNF236):c.1551C>T:p.Arg517=	coding	Benign
18	76899174	C	T	C76899174T	ZNF236	NM_007345.3(ZNF236):c.1840C>T:p.Pro614Ser	coding	Benign
18	76913813	C	T	C76913813T	ZNF236	NM_007345.3(ZNF236):c.2970C>T:p.Thr990=	coding	Benign
18	76927921	A	C	A76927921C	ZNF236	NM_007345.3(ZNF236):c.4409-6A>C	noncoding	Benign
18	76928075	G	T	G76928075T	ZNF236	NM_007345.3(ZNF236):c.4557G>T:p.Gly1519=	coding	Benign
18	76928115	G	A	G76928115A	ZNF236	NM_007345.3(ZNF236):c.4588+9G>A	noncoding	Benign
18	76956014	G	A	G76956014A	ZNF236	NM_007345.3(ZNF236):c.4938G>A:p.Pro1646=	coding	Benign
18	76956077	A	G	A76956077G	ZNF236	NM_007345.3(ZNF236):c.5001A>G:p.Ser1667=	coding	Benign
18	76956173	G	C	G76956173C	ZNF236	NM_007345.3(ZNF236):c.5097G>C:p.Thr1699=	coding	Benign
18	76960734	G	A	G76960734A	ZNF236	NM_007345.3(ZNF236):c.5292G>A:p.Ala1764=	coding	Benign
18	76968262	C	T	C76968262T	ZNF236	NM_007345.3(ZNF236):c.5461C>T:p.Leu1821=	coding	Benign
18	76989980	G	A	G76989980A	MBP	NM_001025101.2(MBP):c.657C>T:p.Pro219=	coding	Benign
18	76990036	C	T	C76990036T	MBP	NM_001025101.2(MBP):c.601G>A:p.Ala201Thr	coding	Benign
18	77017017	G	A	G77017017A	MBP	NM_001025101.2(MBP):c.391C>T:p.Leu131=	coding	Benign
18	78993059	C	T	C78993059T	SALL3	NM_171999.3(SALL3):c.1068C>T:p.Pro356=	coding	Benign
18	78994226	G	A	G78994226A	SALL3	NM_171999.3(SALL3):c.2235G>A:p.Gln745=	coding	Benign
18	79110412	A	C	A79110412C	ATP9B	NM_198531.5(ATP9B):c.351A>C:p.Thr117=	coding	Benign
18	79253425	A	G	A79253425G	ATP9B	NM_198531.5(ATP9B):c.1152A>G:p.Leu384=	coding	Benign
18	79303702	G	A	G79303702A	ATP9B	NM_198531.5(ATP9B):c.1510G>A:p.Asp504Asn	coding	Benign
18	79307171	C	T	C79307171T	ATP9B	NM_198531.5(ATP9B):c.1710C>T:p.Phe570=	coding	Benign
18	79336714	G	A	G79336714A	ATP9B	NM_198531.5(ATP9B):c.2112+3G>A	noncoding	Benign
18	79396328	G	A	G79396328A	NFATC1	NM_006162.5(NFATC1):c.104G>A:p.Gly35Asp	coding	Benign
18	79396329	C	T	C79396329T	NFATC1	NM_006162.5(NFATC1):c.105C>T:p.Gly35=	coding	Benign
18	79410428	C	T	C79410428T	NFATC1	NM_006162.5(NFATC1):c.153C>T:p.Asn51=	coding	Benign
18	79410479	G	A	G79410479A	NFATC1	NM_001278669.2(NFATC1):c.204G>A:p.Pro68=	coding	Benign
18	79410512	C	T	C79410512T	NFATC1	NM_006162.5(NFATC1):c.237C>T:p.Ile79=	coding	Benign
18	79410566	C	T	C79410566T	NFATC1	NM_006162.5(NFATC1):c.291C>T:p.Pro97=	coding	Benign
18	79410569	G	A	G79410569A	NFATC1	NM_006162.5(NFATC1):c.294G>A:p.Ala98=	coding	Benign
18	79410911	C	G	C79410911G	NFATC1	NM_001278669.2(NFATC1):c.636C>G:p.Pro212=	coding	Benign
18	79410998	G	A	G79410998A	NFATC1	NM_001278669.2(NFATC1):c.723G>A:p.Ser241=	coding	Benign
18	79411130	G	A	G79411130A	NFATC1	NM_006162.5(NFATC1):c.855G>A:p.Pro285=	coding	Benign
18	79411331	C	T	C79411331T	NFATC1	NM_006162.5(NFATC1):c.1056C>T:p.Pro352=	coding	Benign
18	79448841	C	T	C79448841T	NFATC1	NM_006162.5(NFATC1):c.1446C>T:p.Asp482=	coding	Benign
18	79448916	C	T	C79448916T	NFATC1	NM_001278669.2(NFATC1):c.1521C>T:p.His507=	coding	Benign
18	79448992	G	A	G79448992A	NFATC1	NM_001278669.2(NFATC1):c.1589+8G>A	noncoding	Benign
18	79486445	G	A	G79486445A	NFATC1	NM_001278669.2(NFATC1):c.2290G>A:p.Val764Met	coding	Benign
18	79486527	C	T	C79486527T	NFATC1	NM_006162.5(NFATC1):c.2372C>T:p.Pro791Leu	coding	Benign
18	79680097	C	G	C79680097G	CTDP1	NM_004715.4(CTDP1):c.150C>G:p.Ala50=	coding	Benign
18	79680128	T	G	T79680128G	CTDP1	NM_004715.4(CTDP1):c.181T>G:p.Ser61Ala	coding	Benign
18	79680133	G	C	G79680133C	CTDP1	NM_004715.4(CTDP1):c.186G>C:p.Gly62=	coding	Benign
18	79680160	G	C	G79680160C	CTDP1	NM_004715.4(CTDP1):c.213G>C:p.Gly71=	coding	Benign/Likely_benign
18	79680241	G	A	G79680241A	CTDP1	NM_004715.5(CTDP1):c.294G>A:p.Pro98=	coding	Benign
18	79696077	C	T	C79696077T	CTDP1	NM_004715.5(CTDP1):c.492+7C>T	noncoding	Benign
18	79696078	G	T	G79696078T	CTDP1	NM_004715.5(CTDP1):c.492+8G>T	noncoding	Benign
18	79704853	C	T	C79704853T	CTDP1	NM_004715.5(CTDP1):c.708C>T:p.Ile236=	coding	Benign
18	79704874	C	T	C79704874T	CTDP1	NM_004715.5(CTDP1):c.729C>T:p.His243=	coding	Benign
18	79710353	A	G	A79710353G	CTDP1	NM_004715.5(CTDP1):c.780A>G:p.Leu260=	coding	Benign
18	79710359	C	T	C79710359T	CTDP1	NM_004715.5(CTDP1):c.786C>T:p.Pro262=	coding	Benign
18	79710446	C	T	C79710446T	CTDP1	NM_004715.5(CTDP1):c.863+10C>T	noncoding	Benign
18	79713086	G	A	G79713086A	CTDP1	NM_004715.4(CTDP1):c.978G>A:p.Thr326=	coding	Benign
18	79713127	C	T	C79713127T	CTDP1	NM_004715.4(CTDP1):c.1019C>T:p.Thr340Met	coding	Benign
18	79714516	C	G	C79714516G	CTDP1	NM_004715.5(CTDP1):c.1056C>G:p.Val352=	coding	Benign
18	79714526	T	C	T79714526C	CTDP1	NM_004715.5(CTDP1):c.1066T>C:p.Ser356Pro	coding	Benign
18	79714626	C	T	C79714626T	CTDP1	NM_004715.4(CTDP1):c.1166C>T:p.Ala389Val	coding	Benign
18	79714711	A	G	A79714711G	CTDP1	NM_004715.5(CTDP1):c.1251A>G:p.Gln417=	coding	Benign
18	79714771	G	A	G79714771A	CTDP1	NM_004715.5(CTDP1):c.1311G>A:p.Pro437=	coding	Benign
18	79714921	G	A	G79714921A	CTDP1	NM_004715.4(CTDP1):c.1461G>A:p.Pro487=	coding	Benign
18	79715062	G	T	G79715062T	CTDP1	NM_004715.5(CTDP1):c.1602G>T:p.Glu534Asp	coding	Benign
18	79715086	C	T	C79715086T	CTDP1	NM_004715.5(CTDP1):c.1626C>T:p.Cys542=	coding	Benign
18	79715368	C	T	C79715368T	CTDP1	NM_004715.5(CTDP1):c.1908C>T:p.Asp636=	coding	Benign
18	79715455	G	A	G79715455A	CTDP1	NM_004715.4(CTDP1):c.1995G>A:p.Ala665=	coding	Benign
18	79717515	C	T	C79717515T	CTDP1	NM_004715.4(CTDP1):c.2069-20C>T	noncoding	Benign
18	79717536	C	T	C79717536T	CTDP1	NM_004715.5(CTDP1):c.2070C>T:p.Gly690=	coding	Benign
18	79717822	T	C	T79717822C	CTDP1	NM_004715.5(CTDP1):c.2223T>C:p.Pro741=	coding	Benign
18	79717840	G	C	G79717840C	CTDP1	NM_004715.5(CTDP1):c.2241G>C:p.Arg747=	coding	Benign
18	79717863	T	C	T79717863C	CTDP1	NM_004715.5(CTDP1):c.2264T>C:p.Leu755Ser	coding	Benign
18	79717873	G	A	G79717873A	CTDP1	NM_004715.4(CTDP1):c.2274G>A:p.Pro758=	coding	Benign/Likely_benign
18	79717921	C	T	C79717921T	CTDP1	NM_004715.4(CTDP1):c.2322C>T:p.Tyr774=	coding	Benign/Likely_benign
18	79718011	C	T	C79718011T	CTDP1	NM_004715.4(CTDP1):c.2412C>T:p.Ser804=	coding	Benign
18	79736350	G	T	G79736350T	CTDP1	NM_004715.4(CTDP1):c.2581-5G>T	noncoding	Benign/Likely_benign
18	79753721	T	C	T79753721C	CTDP1	NM_004715.4(CTDP1):c.2817T>C:p.Asp939=	coding	Benign
18	79919249	G	A	G79919249A	SLC66A2	NM_025078.5(SLC66A2):c.543C>T:p.Thr181=	coding	Benign
18	79973691	G	A	G79973691A	TXNL4A	NM_006701.5(TXNL4A):c.423C>T:p.Arg141=	coding	Benign
18	79973765	C	A	C79973765A	TXNL4A	NM_006701.5(TXNL4A):c.349G>T:p.Glu117Ter	coding	Pathogenic
18	79988237	T	C	T79988237C	TXNL4A	NM_006701.5(TXNL4A):c.153+3A>G	noncoding	Pathogenic
18	79988356	G	A	G79988356A	TXNL4A	NM_006701.5(TXNL4A):c.37C>T:p.Gln13Ter	coding	Pathogenic
19	507545	G	A	G507545A	TPGS1	NM_033513.3(TPGS1):c.39G>A:p.Pro13=	coding	Benign
19	518982	C	T	C518982T	TPGS1	NM_033513.3(TPGS1):c.432C>T:p.Ser144=	coding	Benign
19	519336	G	A	G519336A	TPGS1	NM_033513.3(TPGS1):c.786G>A:p.Gly262=	coding	Benign
19	548630	C	A	C548630A	GZMM	NM_005317.4(GZMM):c.301C>A:p.Arg101Ser	coding	Benign
19	548955	C	T	C548955T	GZMM	NM_005317.4(GZMM):c.382C>T:p.Arg128Trp	coding	Benign
19	549077	C	T	C549077T	GZMM	NM_005317.4(GZMM):c.504C>T:p.Leu168=	coding	Benign
19	579519	C	T	C579519T	BSG	NM_001728.4(BSG):c.435C>T:p.Thr145=	coding	Benign
19	581371	A	G	A581371G	BSG	NM_001728.4(BSG):c.849A>G:p.Ser283=	coding	Benign
19	605147	C	T	C605147T	HCN2	NM_001194.4(HCN2):c.1143C>T:p.Asp381=	coding	Benign
19	607984	G	A	G607984A	HCN2	NM_001194.4(HCN2):c.1239G>A:p.Leu413=	coding	Benign
19	613394	C	T	C613394T	HCN2	NM_001194.4(HCN2):c.1731C>T:p.Ile577=	coding	Benign
19	613976	C	T	C613976T	HCN2	NM_001194.4(HCN2):c.1950C>T:p.Arg650=	coding	Benign
19	615791	G	T	G615791T	HCN2	NM_001194.4(HCN2):c.1991-4G>T	noncoding	Benign
19	617573	G	A	G617573A	POLRMT	NM_005035.4(POLRMT):c.3578C>T:p.Ser1193Phe	coding	Benign
19	618550	C	T	C618550T	POLRMT	NM_005035.4(POLRMT):c.3360G>A:p.Pro1120=	coding	Benign
19	619099	G	A	G619099A	POLRMT	NM_005035.4(POLRMT):c.3165C>T:p.Thr1055=	coding	Benign
19	620005	C	T	C620005T	POLRMT	NM_005035.4(POLRMT):c.2839G>A:p.Glu947Lys	coding	Benign
19	621148	C	T	C621148T	POLRMT	NM_005035.4(POLRMT):c.2550G>A:p.Gly850=	coding	Benign
19	622167	G	C	G622167C	POLRMT	NM_005035.4(POLRMT):c.1833C>G:p.Ser611=	coding	Benign
19	622304	G	A	G622304A	POLRMT	NM_005035.4(POLRMT):c.1696C>T:p.Pro566Ser	coding	Benign
19	622326	C	G	C622326G	POLRMT	NM_005035.4(POLRMT):c.1674G>C:p.Ala558=	coding	Benign
19	629639	G	A	G629639A	POLRMT	NM_005035.4(POLRMT):c.723C>T:p.Leu241=	coding	Benign
19	629897	C	T	C629897T	POLRMT	NM_005035.4(POLRMT):c.465G>A:p.Ala155=	coding	Benign
19	632849	C	T	C632849T	POLRMT	NM_005035.4(POLRMT):c.178G>A:p.Val60Met	coding	Benign
19	648401	C	T	C648401T	RNF126	NM_194460.3(RNF126):c.757G>A:p.Asp253Asn	coding	Benign
19	757037	T	C	T757037C	MISP	NM_173481.4(MISP):c.91T>C:p.Tyr31His	coding	Benign
19	757321	C	T	C757321T	MISP	NM_173481.4(MISP):c.375C>T:p.Arg125=	coding	Benign
19	757354	G	A	G757354A	MISP	NM_173481.4(MISP):c.408G>A:p.Leu136=	coding	Benign
19	757465	C	T	C757465T	MISP	NM_173481.4(MISP):c.519C>T:p.Pro173=	coding	Benign
19	757483	G	A	G757483A	MISP	NM_173481.4(MISP):c.537G>A:p.Thr179=	coding	Benign
19	757634	G	T	G757634T	MISP	NM_173481.4(MISP):c.688G>T:p.Ala230Ser	coding	Benign
19	757648	C	G	C757648G	MISP	NM_173481.4(MISP):c.702C>G:p.Phe234Leu	coding	Benign
19	757887	G	A	G757887A	MISP	NM_173481.4(MISP):c.941G>A:p.Arg314Gln	coding	Benign
19	758121	C	T	C758121T	MISP	NM_173481.4(MISP):c.1175C>T:p.Ala392Val	coding	Benign
19	804184	C	T	C804184T	PTBP1	NM_002819.5(PTBP1):c.264C>T:p.Leu88=	coding	Benign
19	804921	C	T	C804921T	PTBP1	NM_002819.5(PTBP1):c.699C>T:p.Ser233=	coding	Benign
19	806469	G	A	G806469A	PTBP1	NM_002819.5(PTBP1):c.1032G>A:p.Ala344=	coding	Benign
19	806559	A	G	A806559G	PTBP1	NM_002819.5(PTBP1):c.1119+3A>G	noncoding	Benign/Likely_benign
19	808373	C	T	C808373T	PTBP1	NM_002819.5(PTBP1):c.1167C>T:p.Asp389=	coding	Benign
19	808631	C	T	C808631T	PTBP1	NM_002819.5(PTBP1):c.1332C>T:p.Arg444=	coding	Benign
19	808673	C	T	C808673T	PTBP1	NM_002819.5(PTBP1):c.1374C>T:p.Asn458=	coding	Benign
19	808679	C	T	C808679T	PTBP1	NM_002819.5(PTBP1):c.1380C>T:p.Pro460=	coding	Benign
19	843597	G	T	G843597T	PRTN3	NM_002777.4(PRTN3):c.198G>T:p.Val66=	coding	Benign
19	852104	C	A	C852104A	ELANE	NC_000019.10:g.852104C>A	noncoding	Benign
19	852288	C	A	C852288A	ELANE	NM_001972.3(ELANE):c.-38-3C>A	noncoding	Benign
19	852344	C	A	C852344A	ELANE	NM_001972.4(ELANE):c.16C>A:p.Arg6=	coding	Benign
19	852388	G	A	G852388A	ELANE	NM_001972.4(ELANE):c.60G>A:p.Leu20=	coding	Benign
19	852907	C	T	C852907T	ELANE	NM_001972.4(ELANE):c.99C>T:p.Gly33=	coding	Benign
19	852934	C	T	C852934T	ELANE	NM_001972.4(ELANE):c.126C>T:p.Pro42=	coding	Benign
19	852945	C	T	C852945T	ELANE	NM_001972.4(ELANE):c.137C>T:p.Ser46Phe	coding	Pathogenic
19	852948	T	C	T852948C	ELANE	NM_001972.4(ELANE):c.140T>C:p.Leu47Pro	coding	Pathogenic
19	852978	C	T	C852978T	ELANE	NM_001972.4(ELANE):c.170C>T:p.Ala57Val	coding	Pathogenic/Likely_pathogenic
19	852979	C	T	C852979T	ELANE	NM_001972.4(ELANE):c.171C>T:p.Ala57=	coding	Benign/Likely_benign
19	852990	C	T	C852990T	ELANE	NM_001972.4(ELANE):c.182C>T:p.Ala61Val	coding	Pathogenic
19	853019	T	C	T853019C	ELANE	NM_001972.4(ELANE):c.211T>C:p.Cys71Arg	coding	Pathogenic
19	853020	G	T	G853020T	ELANE	NM_001972.4(ELANE):c.212G>T:p.Cys71Phe	coding	Pathogenic
19	853022	G	A	G853022A	ELANE	NM_001972.4(ELANE):c.214G>A:p.Val72Met	coding	Pathogenic
19	853338	G	A	G853338A	ELANE	NM_001972.4(ELANE):c.301G>A:p.Val101Met	coding	Pathogenic
19	855574	C	T	C855574T	ELANE	NM_001972.4(ELANE):c.377C>T:p.Ser126Leu	coding	Pathogenic
19	855587	C	T	C855587T	ELANE	NM_001972.4(ELANE):c.390C>T:p.Asn130=	coding	Benign
19	855593	C	T	C855593T	ELANE	NM_001972.4(ELANE):c.396C>T:p.Asn132=	coding	Benign
19	855613	C	T	C855613T	ELANE	NM_001972.4(ELANE):c.416C>T:p.Pro139Leu	coding	Pathogenic/Likely_pathogenic
19	855649	G	A	G855649A	ELANE	NM_001972.4(ELANE):c.452G>A:p.Cys151Tyr	coding	Pathogenic
19	855649	G	T	G855649T	ELANE	NM_001972.4(ELANE):c.452G>T:p.Cys151Phe	coding	Pathogenic
19	855758	C	A	C855758A	ELANE	NM_001972.4(ELANE):c.561C>A:p.Cys187Ter	coding	Pathogenic
19	855795	G	A	G855795A	ELANE	NM_001972.4(ELANE):c.597+1G>A	coding	Pathogenic
19	855795	G	C	G855795C	ELANE	NM_001972.4(ELANE):c.597+1G>C	coding	Pathogenic
19	855799	G	A	G855799A	ELANE	NM_001972.4(ELANE):c.597+5G>A	noncoding	Pathogenic/Likely_pathogenic
19	855966	C	A	C855966A	ELANE	NM_001972.4(ELANE):c.606C>A:p.Ser202=	coding	Benign
19	855966	C	T	C855966T	ELANE	NM_001972.4(ELANE):c.606C>T:p.Ser202=	coding	Benign/Likely_benign
19	855967	G	C	G855967C	ELANE	NM_001972.4(ELANE):c.607G>C:p.Gly203Arg	coding	Pathogenic
19	855978	G	T	G855978T	ELANE	NM_001972.4(ELANE):c.618G>T:p.Leu206Phe	coding	Pathogenic
19	855988	G	A	G855988A	ELANE	NM_001972.4(ELANE):c.628G>A:p.Gly210Arg	coding	Pathogenic
19	856000	G	A	G856000A	ELANE	NM_001972.4(ELANE):c.640G>A:p.Gly214Arg	coding	Pathogenic
19	856014	C	T	C856014T	ELANE	NM_001972.4(ELANE):c.654C>T:p.Phe218=	coding	Benign/Likely_benign
19	856015	G	A	G856015A	ELANE	NM_001972.4(ELANE):c.655G>A:p.Val219Ile	coding	Benign/Likely_benign
19	856019	G	A	G856019A	ELANE	NM_001972.4(ELANE):c.659G>A:p.Arg220Gln	coding	Pathogenic
19	856029	C	A	C856029A	ELANE	NM_001972.4(ELANE):c.669C>A:p.Cys223Ter	coding	Pathogenic
19	856130	C	T	C856130T	ELANE	NM_001972.4(ELANE):c.770C>T:p.Pro257Leu	coding	Benign/Likely_benign
19	856145	C	T	C856145T	ELANE	NM_001972.4(ELANE):c.785C>T:p.Pro262Leu	coding	Benign/Likely_benign
19	860686	C	A	C860686A	CFD	NM_001928.4(CFD):c.125C>A:p.Ser42Ter	coding	Pathogenic
19	860780	G	T	G860780T	CFD	NM_001928.4(CFD):c.212+7G>T	noncoding	Benign
19	860852	G	C	G860852C	CFD	NM_001928.4(CFD):c.213-9G>C	noncoding	Benign
19	861869	C	A	C861869A	CFD	NM_001928.4(CFD):c.528C>A:p.Arg176=	coding	Benign
19	861911	C	T	C861911T	CFD	NM_001928.4(CFD):c.570C>T:p.Thr190=	coding	Benign
19	868421	G	A	G868421A	MED16	NM_005481.3(MED16):c.2478C>T:p.Asn826=	coding	Benign
19	875245	G	A	G875245A	MED16	NM_005481.3(MED16):c.1770C>T:p.Val590=	coding	Benign
19	886082	G	A	G886082A	MED16	NM_005481.3(MED16):c.567C>T:p.Thr189=	coding	Benign
19	886088	C	A	C886088A	MED16	NM_005481.3(MED16):c.561G>T:p.Leu187=	coding	Benign
19	917511	C	T	C917511T	KISS1R	NM_032551.5(KISS1R):c.9C>T:p.Thr3=	coding	Benign
19	917526	A	G	A917526G	KISS1R	NM_032551.5(KISS1R):c.24A>G:p.Gly8=	coding	Benign
19	918590	C	T	C918590T	KISS1R	NM_032551.5(KISS1R):c.291C>T:p.Pro97=	coding	Benign/Likely_benign
19	918632	C	T	C918632T	KISS1R	NM_032551.5(KISS1R):c.333C>T:p.Gly111=	coding	Benign/Likely_benign
19	919515	C	T	C919515T	KISS1R	NM_032551.5(KISS1R):c.395C>T:p.Thr132Ile	coding	Benign
19	919563	T	C	T919563C	KISS1R	NM_032551.5(KISS1R):c.443T>C:p.Leu148Ser	coding	Pathogenic
19	919933	G	A	G919933A	KISS1R	NM_032551.5(KISS1R):c.565G>A:p.Ala189Thr	coding	Benign/Likely_benign
19	919983	A	C	A919983C	KISS1R	NM_032551.5(KISS1R):c.615A>C:p.Ala205=	coding	Benign
19	920055	C	T	C920055T	KISS1R	NM_032551.5(KISS1R):c.687C>T:p.Arg229=	coding	Benign
19	920488	T	C	T920488C	KISS1R	NM_032551.5(KISS1R):c.937T>C:p.Tyr313His	coding	Pathogenic
19	920542	C	T	C920542T	KISS1R	NM_032551.5(KISS1R):c.991C>T:p.Arg331Ter	coding	Pathogenic
19	920642	T	A	T920642A	KISS1R	NM_032551.5(KISS1R):c.1091T>A:p.Leu364His	coding	Benign
19	920746	T	A	T920746A	KISS1R	NM_032551.5(KISS1R):c.1195T>A:p.Ter399Arg	coding	Pathogenic
19	929763	G	A	G929763A	ARID3A	NM_005224.3(ARID3A):c.235G>A:p.Gly79Ser	coding	Benign
19	966714	A	G	A966714G	ARID3A	NM_005224.3(ARID3A):c.1341A>G:p.Glu447=	coding	Benign
19	966831	G	A	G966831A	ARID3A	NM_005224.3(ARID3A):c.1458G>A:p.Ala486=	coding	Benign
19	968475	G	A	G968475A	ARID3A	NM_005224.3(ARID3A):c.1566G>A:p.Ser522=	coding	Benign
19	971936	C	T	C971936T	ARID3A	NM_005224.3(ARID3A):c.1653C>T:p.Gly551=	coding	Benign
19	990869	G	A	G990869A	WDR18	NM_024100.4(WDR18):c.615G>A:p.Ser205=	coding	Benign
19	1004710	A	G	A1004710G	GRIN3B	NM_138690.3(GRIN3B):c.1209A>G:p.Ala403=	coding	Benign
19	1005187	G	A	G1005187A	GRIN3B	NM_138690.3(GRIN3B):c.1686G>A:p.Thr562=	coding	Benign
19	1008705	G	A	G1008705A	GRIN3B	NM_138690.3(GRIN3B):c.2554G>A:p.Glu852Lys	coding	Benign
19	1042354	C	T	C1042354T	ABCA7	NM_019112.4(ABCA7):c.455C>T:p.Pro152Leu	coding	Benign
19	1043184	C	T	C1043184T	ABCA7	NM_019112.4(ABCA7):c.723C>T:p.Tyr241=	coding	Benign
19	1044590	T	C	T1044590C	ABCA7	NM_019112.4(ABCA7):c.1061T>C:p.Met354Thr	coding	Benign
19	1045027	C	G	C1045027G	ABCA7	NM_019112.4(ABCA7):c.1241C>G:p.Ala414Gly	coding	Benign
19	1047318	G	A	G1047318A	ABCA7	NM_019112.4(ABCA7):c.2007G>A:p.Leu669=	coding	Benign
19	1048899	G	C	G1048899C	ABCA7	NM_019112.4(ABCA7):c.2274G>C:p.Gln758His	coding	Benign
19	1048983	C	T	C1048983T	ABCA7	NM_019112.4(ABCA7):c.2358C>T:p.Cys786=	coding	Benign
19	1051151	G	T	G1051151T	ABCA7	NM_019112.4(ABCA7):c.2685-4G>T	noncoding	Benign
19	1051933	C	T	C1051933T	ABCA7	NM_019112.4(ABCA7):c.2963-9C>T	noncoding	Benign
19	1052135	C	T	C1052135T	ABCA7	NM_019112.4(ABCA7):c.3147+9C>T	noncoding	Benign
19	1053840	C	T	C1053840T	ABCA7	NM_019112.4(ABCA7):c.3472+4C>T	noncoding	Benign
19	1054325	G	A	G1054325A	ABCA7	NM_019112.4(ABCA7):c.3710G>A:p.Arg1237His	coding	Benign
19	1056228	T	C	T1056228C	ABCA7	NM_019112.4(ABCA7):c.4401T>C:p.Ala1467=	coding	Benign
19	1056422	G	A	G1056422A	ABCA7	NM_019112.4(ABCA7):c.4509G>A:p.Pro1503=	coding	Benign
19	1056427	G	A	G1056427A	ABCA7	NM_019112.4(ABCA7):c.4514G>A:p.Arg1505His	coding	Benign
19	1057920	C	T	C1057920T	ABCA7	NM_019112.4(ABCA7):c.4886C>T:p.Ser1629Leu	coding	Benign
19	1058849	G	A	G1058849A	ABCA7	NM_019112.4(ABCA7):c.5309G>A:p.Gly1770Glu	coding	Benign
19	1065138	G	A	G1065138A	ABCA7	NM_019112.4(ABCA7):c.6252G>A:p.Glu2084=	coding	Benign
19	1077948	C	T	C1077948T	ARHGAP45	NM_012292.4(ARHGAP45):c.1277C>T:p.Ala426Val	coding	Benign
19	1081859	G	A	G1081859A	ARHGAP45	NM_012292.4(ARHGAP45):c.2415G>A:p.Val805=	coding	Benign
19	1082836	G	A	G1082836A	ARHGAP45	NM_012292.4(ARHGAP45):c.2518-4G>A	noncoding	Benign
19	1084315	G	C	G1084315C	ARHGAP45	NM_012292.4(ARHGAP45):c.3033G>C:p.Pro1011=	coding	Benign
19	1085691	G	A	G1085691A	ARHGAP45	NM_012292.4(ARHGAP45):c.3096G>A:p.Ser1032=	coding	Benign
19	1085864	A	G	A1085864G	ARHGAP45	NM_012292.4(ARHGAP45):c.3269A>G:p.Glu1090Gly	coding	Benign
19	1091909	T	C	T1091909C	POLR2E	NM_002695.4(POLR2E):c.233-2A>G	noncoding	Pathogenic
19	1093977	C	T	C1093977T	POLR2E	NM_002695.4(POLR2E):c.159G>A:p.Pro53=	coding	Benign
19	1104902	C	G	C1104902G	GPX4	NM_002085.5(GPX4):c.85-284C>G	coding	Benign
19	1105456	C	A	C1105456A	GPX4	NM_002085.5(GPX4):c.270C>A:p.Tyr90Ter	coding	Pathogenic
19	1105724	A	G	A1105724G	GPX4	NM_002085.5(GPX4):c.391A>G:p.Ser131Gly	coding	Benign
19	1105735	C	T	C1105735T	GPX4	NM_002085.5(GPX4):c.402C>T:p.Cys134=	coding	Benign
19	1105814	G	A	G1105814A	GPX4	NM_002085.5(GPX4):c.476+5G>A	noncoding	Pathogenic
19	1106263	C	T	C1106263T	GPX4	NM_002085.5(GPX4):c.498C>T:p.Thr166=	coding	Benign
19	1205890	C	T	C1205890T	STK11	NM_000455.4(STK11):c.-1024C>T	noncoding	Benign
19	1206334	G	A	G1206334A	STK11	NM_000455.5(STK11):c.-580G>A	noncoding	Benign
19	1206337	C	T	C1206337T	STK11	NM_000455.4(STK11):c.-577C>T	noncoding	Benign
19	1206352	G	C	G1206352C	STK11	NM_000455.4(STK11):c.-562G>C	noncoding	Benign
19	1206484	C	T	C1206484T	STK11	NM_000455.4(STK11):c.-430C>T	noncoding	Benign
19	1206603	C	T	C1206603T	STK11	NM_000455.4(STK11):c.-311C>T	noncoding	Benign
19	1206640	C	T	C1206640T	STK11	NM_000455.4(STK11):c.-274C>T	noncoding	Benign
19	1206777	C	T	C1206777T	STK11	NM_000455.4(STK11):c.-137C>T	noncoding	Benign/Likely_benign
19	1206787	T	C	T1206787C	STK11	NM_000455.4(STK11):c.-127T>C	noncoding	Benign
19	1206865	A	C	A1206865C	STK11	NM_000455.4(STK11):c.-49A>C	noncoding	Benign
19	1206955	G	A	G1206955A	STK11	NM_000455.4(STK11):c.42G>A:p.Glu14=	coding	Benign/Likely_benign
19	1206997	C	T	C1206997T	STK11	NM_000455.4(STK11):c.84C>T:p.Arg28=	coding	Benign/Likely_benign
19	1207009	C	G	C1207009G	STK11	NM_000455.4(STK11):c.96C>G:p.Thr32=	coding	Benign/Likely_benign
19	1207021	C	A	C1207021A	STK11	NM_000455.4(STK11):c.108C>A:p.Tyr36Ter	coding	Pathogenic
19	1207021	C	G	C1207021G	STK11	NM_000455.4(STK11):c.108C>G:p.Tyr36Ter	coding	Pathogenic
19	1207022	C	T	C1207022T	STK11	NM_000455.4(STK11):c.109C>T:p.Gln37Ter	coding	Pathogenic
19	1207058	T	G	T1207058G	STK11	NM_000455.4(STK11):c.145T>G:p.Tyr49Asp	coding	Pathogenic
19	1207082	G	T	G1207082T	STK11	NM_000455.4(STK11):c.169G>T:p.Glu57Ter	coding	Pathogenic
19	1207093	C	A	C1207093A	STK11	NM_000455.4(STK11):c.180C>A:p.Tyr60Ter	coding	Pathogenic
19	1207093	C	G	C1207093G	STK11	NM_000455.4(STK11):c.180C>G:p.Tyr60Ter	coding	Pathogenic
19	1207113	T	C	T1207113C	STK11	NM_000455.4(STK11):c.200T>C:p.Leu67Pro	coding	Pathogenic/Likely_pathogenic
19	1207163	A	T	A1207163T	STK11	NM_000455.4(STK11):c.250A>T:p.Lys84Ter	coding	Pathogenic
19	1207169	C	T	C1207169T	STK11	NM_000455.4(STK11):c.256C>T:p.Arg86Ter	coding	Pathogenic
19	1207177	C	A	C1207177A	STK11	NM_000455.5(STK11):c.264C>A	coding	Benign
19	1207202	A	T	A1207202T	STK11	NM_000455.5(STK11):c.289A>T:p.Lys97Ter	coding	Pathogenic
19	1207204	G	A	G1207204A	STK11	NM_000455.4(STK11):c.290+1G>A	coding	Pathogenic
19	1207204	G	T	G1207204T	STK11	NM_000455.5(STK11):c.290+1G>T	coding	Pathogenic
19	1207239	G	T	G1207239T	STK11	NM_000455.4(STK11):c.290+36G>T	noncoding	Benign
19	1218415	A	C	A1218415C	STK11	NM_000455.5(STK11):c.291-2A>C	noncoding	Pathogenic
19	1218415	A	G	A1218415G	STK11	NM_000455.4(STK11):c.291-2A>G	noncoding	Pathogenic
19	1218416	G	A	G1218416A	STK11	NM_000455.5(STK11):c.291-1G>A	noncoding	Pathogenic
19	1218416	G	T	G1218416T	STK11	NM_000455.4(STK11):c.291-1G>T	noncoding	Pathogenic
19	1218440	T	G	T1218440G	STK11	NM_000455.5(STK11):c.314T>G:p.Leu105Ter	coding	Pathogenic
19	1218480	C	G	C1218480G	STK11	NM_000455.5(STK11):c.354C>G:p.Tyr118Ter	coding	Pathogenic
19	1218484	G	T	G1218484T	STK11	NM_000455.4(STK11):c.358G>T:p.Glu120Ter	coding	Pathogenic
19	1218493	C	T	C1218493T	STK11	NM_000455.4(STK11):c.367C>T:p.Gln123Ter	coding	Pathogenic
19	1218495	G	A	G1218495A	STK11	NM_000455.4(STK11):c.369G>A:p.Gln123=	coding	Benign/Likely_benign
19	1218501	A	G	A1218501G	STK11	NM_000455.4(STK11):c.374+1A>G	coding	Pathogenic/Likely_pathogenic
19	1218524	G	T	G1218524T	STK11	NM_000455.5(STK11):c.374+24G>T	noncoding	Benign
19	1219275	G	A	G1219275A	STK11	NM_000455.5(STK11):c.375-49G>A	noncoding	Benign
19	1219317	G	A	G1219317A	STK11	NM_000455.4(STK11):c.375-7G>A	noncoding	Benign/Likely_benign
19	1219337	G	T	G1219337T	STK11	NM_000455.5(STK11):c.388G>T:p.Glu130Ter	coding	Pathogenic
19	1219342	C	G	C1219342G	STK11	NM_000455.4(STK11):c.393C>G:p.Tyr131Ter	coding	Pathogenic
19	1219345	C	A	C1219345A	STK11	NM_000455.4(STK11):c.396C>A:p.Cys132Ter	coding	Pathogenic
19	1219352	G	C	G1219352C	STK11	NM_000455.4(STK11):c.403G>C:p.Gly135Arg	coding	Pathogenic
19	1219358	C	T	C1219358T	STK11	NM_000455.4(STK11):c.409C>T:p.Gln137Ter	coding	Pathogenic
19	1219375	C	T	C1219375T	STK11	NM_000455.4(STK11):c.426C>T:p.Ser142=	coding	Benign/Likely_benign
19	1219422	G	A	G1219422A	STK11	NM_000455.4(STK11):c.464+9G>A	noncoding	Benign/Likely_benign
19	1219423	C	T	C1219423T	STK11	NM_000455.4(STK11):c.464+10C>T	noncoding	Benign/Likely_benign
19	1219430	G	A	G1219430A	STK11	NM_000455.4(STK11):c.464+17G>A	noncoding	Benign
19	1220355	G	T	G1220355T	STK11	NM_000455.4(STK11):c.465-18G>T	noncoding	Benign/Likely_benign
19	1220372	G	A	G1220372A	STK11	NM_000455.4(STK11):c.465-1G>A	noncoding	Pathogenic
19	1220376	C	G	C1220376G	STK11	NM_000455.4(STK11):c.468C>G:p.Tyr156Ter	coding	Pathogenic
19	1220396	G	A	G1220396A	STK11	NM_000455.4(STK11):c.488G>A:p.Gly163Asp	coding	Pathogenic
19	1220406	C	G	C1220406G	STK11	NM_000455.4(STK11):c.498C>G:p.Tyr166Ter	coding	Pathogenic
19	1220416	C	T	C1220416T	STK11	NM_000455.4(STK11):c.508C>T:p.Gln170Ter	coding	Pathogenic/Likely_pathogenic
19	1220434	G	A	G1220434A	STK11	NM_000455.4(STK11):c.526G>A:p.Asp176Asn	coding	Pathogenic
19	1220445	G	A	G1220445A	STK11	NM_000455.4(STK11):c.537G>A:p.Pro179=	coding	Benign/Likely_benign
19	1220450	A	G	A1220450G	STK11	NM_000455.5(STK11):c.542A>G:p.Asn181Ser	coding	Pathogenic/Likely_pathogenic
19	1220451	C	G	C1220451G	STK11	NM_000455.4(STK11):c.543C>G:p.Asn181Lys	coding	Pathogenic/Likely_pathogenic
19	1220460	C	T	C1220460T	STK11	NM_000455.4(STK11):c.552C>T:p.Leu184=	coding	Benign/Likely_benign
19	1220488	G	A	G1220488A	STK11	NM_000455.4(STK11):c.580G>A:p.Asp194Asn	coding	Pathogenic/Likely_pathogenic
19	1220488	G	T	G1220488T	STK11	NM_000455.4(STK11):c.580G>T:p.Asp194Tyr	coding	Pathogenic/Likely_pathogenic
19	1220502	C	T	C1220502T	STK11	NM_000455.4(STK11):c.594C>T:p.Ala198=	coding	Benign/Likely_benign
19	1220506	G	T	G1220506T	STK11	NM_000455.4(STK11):c.597+1G>T	coding	Pathogenic/Likely_pathogenic
19	1220513	C	T	C1220513T	STK11	NM_000455.4(STK11):c.597+8C>T	noncoding	Benign/Likely_benign
19	1220573	C	T	C1220573T	STK11	NM_000455.4(STK11):c.598-8C>T	noncoding	Benign/Likely_benign
19	1220579	A	C	A1220579C	STK11	NM_000455.5(STK11):c.598-2A>C	noncoding	Pathogenic
19	1220579	A	G	A1220579G	STK11	NM_000455.4(STK11):c.598-2A>G	noncoding	Pathogenic
19	1220613	C	A	C1220613A	STK11	NM_000455.4(STK11):c.630C>A:p.Cys210Ter	coding	Pathogenic/Likely_pathogenic
19	1220623	C	T	C1220623T	STK11	NM_000455.4(STK11):c.640C>T:p.Gln214Ter	coding	Pathogenic
19	1220634	G	A	G1220634A	STK11	NM_000455.4(STK11):c.651G>A:p.Pro217=	coding	Benign/Likely_benign
19	1220641	C	T	C1220641T	STK11	NM_000455.4(STK11):c.658C>T:p.Gln220Ter	coding	Pathogenic
19	1220649	C	T	C1220649T	STK11	NM_000455.4(STK11):c.666C>T:p.Pro222=	coding	Benign/Likely_benign
19	1220679	C	T	C1220679T	STK11	NM_000455.4(STK11):c.696C>T:p.Ser232=	coding	Benign/Likely_benign
19	1220699	G	A	G1220699A	STK11	NM_000455.5(STK11):c.716G>A:p.Trp239Ter	coding	Pathogenic
19	1220700	G	A	G1220700A	STK11	NM_000455.4(STK11):c.717G>A:p.Trp239Ter	coding	Pathogenic
19	1220700	G	C	G1220700C	STK11	NM_000455.4(STK11):c.717G>C:p.Trp239Cys	coding	Pathogenic
19	1220702	C	A	C1220702A	STK11	NM_000455.4(STK11):c.719C>A:p.Ser240Ter	coding	Pathogenic
19	1220706	T	C	T1220706C	STK11	NM_000455.4(STK11):c.723T>C:p.Ala241=	coding	Benign/Likely_benign
19	1220718	G	C	G1220718C	STK11	NM_000455.4(STK11):c.734+1G>C	coding	Pathogenic
19	1220718	G	T	G1220718T	STK11	NM_000455.4(STK11):c.734+1G>T	coding	Pathogenic
19	1220734	C	G	C1220734G	STK11	NM_000455.4(STK11):c.734+17C>G	noncoding	Benign/Likely_benign
19	1220737	G	A	G1220737A	STK11	NM_000455.4(STK11):c.734+20G>A	noncoding	Benign/Likely_benign
19	1220758	T	C	T1220758C	STK11	NM_000455.4(STK11):c.734+41T>C	noncoding	Benign
19	1221203	C	T	C1221203T	STK11	NM_000455.4(STK11):c.735-10C>T	noncoding	Benign/Likely_benign
19	1221212	G	A	G1221212A	STK11	NM_000455.4(STK11):c.735-1G>A	noncoding	Pathogenic
19	1221213	C	G	C1221213G	STK11	NM_000455.4(STK11):c.735C>G:p.Leu245=	coding	Benign/Likely_benign
19	1221216	C	G	C1221216G	STK11	NM_000455.4(STK11):c.738C>G:p.Tyr246Ter	coding	Pathogenic
19	1221237	C	A	C1221237A	STK11	NM_000455.4(STK11):c.759C>A:p.Tyr253Ter	coding	Pathogenic
19	1221244	G	T	G1221244T	STK11	NM_000455.4(STK11):c.766G>T:p.Glu256Ter	coding	Pathogenic
19	1221265	T	C	T1221265C	STK11	NM_000455.4(STK11):c.787T>C:p.Leu263=	coding	Benign/Likely_benign
19	1221294	C	G	C1221294G	STK11	NM_000455.4(STK11):c.816C>G:p.Tyr272Ter	coding	Pathogenic
19	1221294	C	T	C1221294T	STK11	NM_000455.4(STK11):c.816C>T:p.Tyr272=	coding	Benign
19	1221315	C	T	C1221315T	STK11	NM_000455.4(STK11):c.837C>T:p.Gly279=	coding	Benign/Likely_benign
19	1221341	G	T	G1221341T	STK11	NM_000455.4(STK11):c.862+1G>T	coding	Pathogenic
19	1221943	C	T	C1221943T	STK11	NM_000455.4(STK11):c.863-6C>T	noncoding	Benign/Likely_benign
19	1221962	C	T	C1221962T	STK11	NM_000455.4(STK11):c.876C>T:p.Tyr292=	coding	Benign/Likely_benign
19	1221963	G	T	G1221963T	STK11	NM_000455.4(STK11):c.877G>T:p.Glu293Ter	coding	Pathogenic
19	1221968	G	A	G1221968A	STK11	NM_000455.4(STK11):c.882G>A:p.Pro294=	coding	Benign/Likely_benign
19	1221977	G	T	G1221977T	STK11	NM_000455.4(STK11):c.891G>T:p.Arg297Ser	coding	Pathogenic
19	1221986	C	T	C1221986T	STK11	NM_000455.4(STK11):c.900C>T:p.Ile300=	coding	Benign/Likely_benign
19	1221990	C	T	C1221990T	STK11	NM_000455.4(STK11):c.904C>T:p.Gln302Ter	coding	Pathogenic
19	1221996	C	T	C1221996T	STK11	NM_000455.4(STK11):c.910C>T:p.Arg304Trp	coding	Pathogenic/Likely_pathogenic
19	1221997	G	C	G1221997C	STK11	NM_000455.4(STK11):c.911G>C:p.Arg304Pro	coding	Pathogenic
19	1221999	C	T	C1221999T	STK11	NM_000455.4(STK11):c.913C>T:p.Gln305Ter	coding	Pathogenic
19	1222007	G	A	G1222007A	STK11	NM_000455.5(STK11):c.920+1G>A	coding	Pathogenic/Likely_pathogenic
19	1222013	G	C	G1222013C	STK11	NM_000455.4(STK11):c.920+7G>C	noncoding	Benign
19	1222927	A	G	A1222927G	STK11	NM_000455.4(STK11):c.921-58A>G	noncoding	Benign
19	1222975	G	A	G1222975A	STK11	NM_000455.4(STK11):c.921-10G>A	noncoding	Benign/Likely_benign
19	1222983	A	C	A1222983C	STK11	NM_000455.4(STK11):c.921-2A>C	noncoding	Pathogenic
19	1222983	A	T	A1222983T	STK11	NM_000455.4(STK11):c.921-2A>T	noncoding	Pathogenic
19	1222984	G	C	G1222984C	STK11	NM_000455.4(STK11):c.921-1G>C	noncoding	Pathogenic
19	1222984	G	T	G1222984T	STK11	NM_000455.4(STK11):c.921-1G>T	noncoding	Pathogenic
19	1222987	G	A	G1222987A	STK11	NM_000455.4(STK11):c.923G>A:p.Trp308Ter	coding	Pathogenic
19	1223009	G	A	G1223009A	STK11	NM_000455.4(STK11):c.945G>A:p.Pro315=	coding	Benign/Likely_benign
19	1223036	G	A	G1223036A	STK11	NM_000455.4(STK11):c.972G>A:p.Pro324=	coding	Benign/Likely_benign
19	1223048	C	G	C1223048G	STK11	NM_000455.4(STK11):c.984C>G:p.Thr328=	coding	Benign/Likely_benign
19	1223099	C	T	C1223099T	STK11	NM_000455.4(STK11):c.1035C>T:p.His345=	coding	Benign/Likely_benign
19	1223126	C	G	C1223126G	STK11	NM_000455.5(STK11):c.1062C>G:p.Phe354Leu	coding	Benign/Likely_benign
19	1226440	C	T	C1226440T	STK11	NM_000455.4(STK11):c.1109-14C>T	noncoding	Benign/Likely_benign
19	1226473	G	A	G1226473A	STK11	NM_000455.4(STK11):c.1128G>A:p.Glu376=	coding	Benign/Likely_benign
19	1226539	G	A	G1226539A	STK11	NM_000455.4(STK11):c.1194G>A:p.Ala398=	coding	Benign/Likely_benign
19	1226602	C	T	C1226602T	STK11	NM_000455.4(STK11):c.1257C>T:p.Ser419=	coding	Benign/Likely_benign
19	1226675	C	T	C1226675T	STK11	NM_000455.5(STK11):c.*16+12C>T	noncoding	Benign
19	1227496	A	C	A1227496C	STK11	NM_000455.4(STK11):c.17-97A>C	noncoding	Benign
19	1227506	C	T	C1227506T	STK11	NM_000455.4(STK11):c.17-87C>T	noncoding	Benign
19	1227585	C	T	C1227585T	STK11	NM_000455.5(STK11):c.*17-8C>T	noncoding	Benign
19	1227605	A	G	A1227605G	STK11	NM_000455.4(STK11):c.*29A>G	noncoding	Benign
19	1227610	C	T	C1227610T	STK11	NM_000455.4(STK11):c.*34C>T	noncoding	Benign
19	1227893	C	G	C1227893G	STK11	NM_000455.4(STK11):c.*317C>G	noncoding	Benign
19	1227941	C	G	C1227941G	STK11	NM_000455.4(STK11):c.*365C>G	noncoding	Benign
19	1228036	G	A	G1228036A	STK11	NM_000455.5(STK11):c.*460G>A	noncoding	Benign
19	1228070	T	A	T1228070A	STK11	NM_000455.4(STK11):c.*494T>A	noncoding	Benign
19	1228192	T	C	T1228192C	STK11	NM_000455.4(STK11):c.*616T>C	noncoding	Benign
19	1228261	C	A	C1228261A	STK11	NM_000455.4(STK11):c.*685C>A	noncoding	Benign
19	1242559	C	T	C1242559T	ATP5F1D	NM_001687.5(ATP5F1D):c.245C>T:p.Pro82Leu	coding	Pathogenic
19	1244118	T	G	T1244118G	ATP5F1D	NM_001687.5(ATP5F1D):c.317T>G:p.Val106Gly	coding	Pathogenic
19	1257137	C	T	C1257137T	MIDN	NM_177401.4(MIDN):c.1272C>T:p.Ala424=	coding	Benign
19	1271130	C	T	C1271130T	CIRBP	NM_001300829.2(CIRBP):c.104-10C>T	noncoding	Benign
19	1272188	C	G	C1272188G	CIRBP	NM_001300829.2(CIRBP):c.639C>G:p.Ser213=	coding	Benign
19	1360744	C	T	C1360744T	PWWP3A	NM_032853.5(PWWP3A):c.823C>T:p.Leu275=	coding	Benign
19	1369259	T	C	T1369259C	PWWP3A	NM_032853.5(PWWP3A):c.1423-6T>C	noncoding	Benign
19	1383551	G	C	G1383551C	NDUFS7	NC_000019.10:g.1383551G>C	noncoding	Benign
19	1383650	G	T	G1383650T	NDUFS7	NC_000019.10:g.1383650G>T	noncoding	Benign
19	1383928	T	C	T1383928C	NDUFS7	NM_024407.5(NDUFS7):c.2T>C:p.Met1Thr	coding	Pathogenic
19	1388321	G	A	G1388321A	NDUFS7	NM_024407.5(NDUFS7):c.54-204G>A	noncoding	Benign
19	1388507	C	T	C1388507T	NDUFS7	NM_024407.5(NDUFS7):c.54-18C>T	noncoding	Benign
19	1388519	C	T	C1388519T	NDUFS7	NM_024407.5(NDUFS7):c.54-6C>T	noncoding	Benign/Likely_benign
19	1388539	C	T	C1388539T	NDUFS7	NM_024407.5(NDUFS7):c.68C>T:p.Pro23Leu	coding	Benign
19	1388813	C	T	C1388813T	NDUFS7	NM_024407.5(NDUFS7):c.123-20C>T	noncoding	Benign
19	1388856	C	G	C1388856G	NDUFS7	NM_024407.5(NDUFS7):c.146C>G:p.Ala49Gly	coding	Benign/Likely_benign
19	1390840	G	A	G1390840A	NDUFS7	NM_024407.5(NDUFS7):c.229-31G>A	noncoding	Benign
19	1391006	G	A	G1391006A	NDUFS7	NM_024407.5(NDUFS7):c.364G>A:p.Val122Met	coding	Pathogenic
19	1391060	G	T	G1391060T	NDUFS7	NM_024407.5(NDUFS7):c.408+10G>T	noncoding	Benign
19	1391144	G	A	G1391144A	NDUFS7	NM_024407.5(NDUFS7):c.434G>A:p.Arg145His	coding	Pathogenic
19	1391328	C	T	C1391328T	NDUFS7	NM_024407.5(NDUFS7):c.455+163C>T	noncoding	Benign
19	1391362	A	G	A1391362G	NDUFS7	NM_024407.5(NDUFS7):c.455+197A>G	noncoding	Benign
19	1393350	G	A	G1393350A	NDUFS7	NM_024407.5(NDUFS7):c.544+20G>A	noncoding	Benign
19	1395498	C	T	C1395498T	NDUFS7	NM_024407.5(NDUFS7):c.*10C>T	noncoding	Benign
19	1395501	C	A	C1395501A	NDUFS7;GAMT	NM_024407.5(NDUFS7):c.*13C>A	noncoding	Benign/Likely_benign
19	1397213	T	G	T1397213G	NDUFS7;GAMT	NM_000156.6(GAMT):c.*146A>C	noncoding	Benign/Likely_benign
19	1397348	G	A	G1397348A	GAMT	NM_000156.6(GAMT):c.*11C>T	noncoding	Benign/Likely_benign
19	1397444	G	A	G1397444A	GAMT;NDUFS7	NM_000156.6(GAMT):c.626C>T:p.Thr209Met	coding	Benign/Likely_benign
19	1397470	G	A	G1397470A	GAMT	NM_000156.6(GAMT):c.600C>T:p.Ala200=	coding	Benign/Likely_benign
19	1397505	C	T	C1397505T	GAMT;NDUFS7	NM_000156.6(GAMT):c.571-6G>A	noncoding	Benign/Likely_benign
19	1397559	G	A	G1397559A	GAMT	NM_000156.6(GAMT):c.571-60C>T	noncoding	Benign
19	1398964	C	T	C1398964T	GAMT	NM_000156.6(GAMT):c.522G>A:p.Trp174Ter	coding	Pathogenic
19	1398965	C	T	C1398965T	GAMT	NM_000156.6(GAMT):c.521G>A:p.Trp174Ter	coding	Pathogenic
19	1398980	C	T	C1398980T	GAMT	NM_000156.6(GAMT):c.506G>A:p.Cys169Tyr	coding	Pathogenic
19	1398983	T	G	T1398983G	GAMT	NM_000156.6(GAMT):c.503A>C:p.Tyr168Ser	coding	Pathogenic/Likely_pathogenic
19	1398995	C	T	C1398995T	GAMT	NM_000156.6(GAMT):c.491G>A:p.Gly164Asp	coding	Pathogenic
19	1399057	C	T	C1399057T	GAMT	NM_000156.6(GAMT):c.460-31G>A	noncoding	Benign
19	1399149	T	C	T1399149C	GAMT	NM_000156.6(GAMT):c.438A>G:p.Thr146=	coding	Benign
19	1399168	G	T	G1399168T	GAMT	NM_000156.6(GAMT):c.419C>A:p.Ser140Ter	coding	Pathogenic/Likely_pathogenic
19	1399185	G	C	G1399185C	GAMT	NM_000156.6(GAMT):c.402C>G:p.Tyr134Ter	coding	Pathogenic
19	1399202	G	A	G1399202A	GAMT	NM_000156.6(GAMT):c.392-7C>T	noncoding	Benign/Likely_benign
19	1399567	C	T	C1399567T	GAMT	NM_000156.6(GAMT):c.348G>A:p.Leu116=	coding	Benign
19	1399793	C	T	C1399793T	GAMT	NM_000156.6(GAMT):c.327G>A:p.Lys109=	coding	Pathogenic
19	1399804	G	A	G1399804A	GAMT	NM_000156.6(GAMT):c.316C>T:p.Gln106Ter	coding	Pathogenic
19	1399808	T	C	T1399808C	GAMT	NM_000156.6(GAMT):c.312A>G:p.Pro104=	coding	Benign/Likely_benign
19	1399841	G	A	G1399841A	GAMT	NM_000156.6(GAMT):c.279C>T:p.Asp93=	coding	Benign/Likely_benign
19	1399852	C	T	C1399852T	GAMT	NM_000156.6(GAMT):c.268G>A:p.Glu90Lys	coding	Pathogenic
19	1399859	C	T	C1399859T	GAMT	NM_000156.6(GAMT):c.261G>A:p.Trp87Ter	coding	Pathogenic
19	1399956	G	A	G1399956A	GAMT	NM_000156.6(GAMT):c.182-18C>T	noncoding	Benign
19	1401329	T	G	T1401329G	GAMT	NM_000156.6(GAMT):c.148A>C:p.Met50Leu	coding	Pathogenic
19	1401344	A	T	A1401344T	GAMT	NM_000156.6(GAMT):c.133T>A:p.Trp45Arg	coding	Pathogenic
19	1401418	C	G	C1401418G	GAMT	NM_000156.6(GAMT):c.59G>C:p.Trp20Ser	coding	Pathogenic
19	1401503	T	G	T1401503G	GAMT	NM_000156.6(GAMT):c.-27A>C	noncoding	Benign
19	1401507	T	C	T1401507C	GAMT	NM_000156.6(GAMT):c.-31A>G	noncoding	Benign
19	1430304	T	C	T1430304C	DAZAP1	NM_018959.4(DAZAP1):c.813T>C:p.Pro271=	coding	Benign
19	1438866	C	T	C1438866T	RPS15	NM_001018.4(RPS15):c.63C>T:p.Asp21=	coding	Benign
19	1440069	G	C	G1440069C	RPS15	NM_001018.4(RPS15):c.140G>C:p.Arg47Pro	coding	Benign
19	1440375	C	T	C1440375T	RPS15	NM_001018.4(RPS15):c.351C>T:p.Gly117=	coding	Benign
19	1453314	C	T	C1453314T	APC2	NM_005883.2(APC2):c.209C>T:p.Thr70Met	coding	Benign
19	1453454	C	T	C1453454T	APC2	NM_005883.2(APC2):c.256C>T:p.Leu86=	coding	Benign
19	1456325	C	A	C1456325A	APC2	NM_005883.2(APC2):c.737C>A:p.Ser246Ter	coding	Pathogenic
19	1456369	C	G	C1456369G	APC2	NM_005883.2(APC2):c.781C>G:p.Pro261Ala	coding	Benign
19	1457007	C	T	C1457007T	APC2	NM_005883.2(APC2):c.971C>T:p.Thr324Ile	coding	Benign/Likely_benign
19	1457117	C	T	C1457117T	APC2	NM_005883.2(APC2):c.1081C>T:p.Gln361Ter	coding	Pathogenic
19	1460836	C	T	C1460836T	APC2	NM_005883.2(APC2):c.1500C>T:p.Ser500=	coding	Benign
19	1461126	G	A	G1461126A	APC2	NM_005883.2(APC2):c.1611G>A:p.Leu537=	coding	Benign
19	1465869	G	A	G1465869A	APC2	NM_005883.2(APC2):c.2568G>A:p.Gln856=	coding	Benign
19	1466028	G	A	G1466028A	APC2	NM_005883.2(APC2):c.2727G>A:p.Ala909=	coding	Benign
19	1466198	G	A	G1466198A	APC2	NM_005883.2(APC2):c.2897G>A:p.Arg966Gln	coding	Benign
19	1466345	C	T	C1466345T	APC2	NM_005883.2(APC2):c.3044C>T:p.Pro1015Leu	coding	Benign
19	1467279	G	A	G1467279A	APC2	NM_005883.2(APC2):c.3978G>A:p.Ala1326=	coding	Benign
19	1467561	G	C	G1467561C	APC2	NM_005883.2(APC2):c.4260G>C:p.Gly1420=	coding	Benign
19	1468443	C	T	C1468443T	APC2	NM_005883.2(APC2):c.5142C>T:p.Ser1714=	coding	Benign
19	1468458	C	T	C1468458T	APC2	NM_005883.2(APC2):c.5157C>T:p.Ser1719=	coding	Benign
19	1468468	G	C	G1468468C	APC2	NM_005883.2(APC2):c.5167G>C:p.Gly1723Arg	coding	Benign
19	1468623	A	C	A1468623C	APC2	NM_005883.2(APC2):c.5322A>C:p.Pro1774=	coding	Benign
19	1468697	C	T	C1468697T	APC2	NM_005883.2(APC2):c.5396C>T:p.Pro1799Leu	coding	Benign
19	1468966	A	C	A1468966C	APC2	NM_005883.2(APC2):c.5665A>C:p.Lys1889Gln	coding	Benign
19	1469079	G	A	G1469079A	APC2	NM_005883.2(APC2):c.5778G>A:p.Ser1926=	coding	Benign
19	1469094	G	A	G1469094A	APC2	NM_005883.2(APC2):c.5793G>A:p.Pro1931=	coding	Benign
19	1469372	C	T	C1469372T	APC2	NM_005883.2(APC2):c.6071C>T:p.Ala2024Val	coding	Benign
19	1469820	G	C	G1469820C	APC2	NM_005883.2(APC2):c.6519G>C:p.Thr2173=	coding	Benign
19	1495328	C	T	C1495328T	REEP6	NM_138393.4(REEP6):c.150C>T:p.Phe50=	coding	Benign
19	1495467	A	G	A1495467G	REEP6	NM_138393.4(REEP6):c.210-2A>G	noncoding	Pathogenic
19	1495526	G	A	G1495526A	REEP6	NM_138393.4(REEP6):c.267G>A:p.Trp89Ter	coding	Pathogenic
19	1496319	C	T	C1496319T	REEP6	NM_138393.4(REEP6):c.383C>T:p.Pro128Leu	coding	Pathogenic
19	1496340	T	C	T1496340C	REEP6	NM_138393.4(REEP6):c.404T>C:p.Leu135Pro	coding	Pathogenic
19	1496349	G	A	G1496349A	REEP6	NM_138393.4(REEP6):c.413G>A:p.Arg138His	coding	Benign
19	1496356	G	A	G1496356A	REEP6	NM_138393.4(REEP6):c.420G>A:p.Val140=	coding	Benign
19	1496385	C	A	C1496385A	REEP6	NM_138393.4(REEP6):c.449C>A:p.Ala150Asp	coding	Benign
19	1496624	T	C	T1496624C	REEP6	NM_138393.4(REEP6):c.517+171T>C	noncoding	Benign
19	1528366	C	T	C1528366T	PLK5	NM_001243079.2(PLK5):c.266C>T:p.Pro89Leu	coding	Benign
19	1531737	G	A	G1531737A	PLK5	NM_001243079.2(PLK5):c.569-1G>A	noncoding	Benign
19	1535106	C	T	C1535106T	PLK5	NM_001243079.2(PLK5):c.867C>T:p.Gly289=	coding	Benign
19	1535148	C	T	C1535148T	PLK5	NM_001243079.2(PLK5):c.909C>T:p.Ser303=	coding	Benign
19	1535233	A	G	A1535233G	PLK5	NM_001243079.2(PLK5):c.994A>G:p.Met332Val	coding	Benign
19	1584672	C	T	C1584672T	MBD3	NM_001281453.2(MBD3):c.276G>A:p.Lys92=	coding	Benign
19	1611740	C	G	C1611740G	TCF3	NM_003200.5(TCF3):c.1932G>C:p.Leu644=	coding	Benign
19	1612357	C	T	C1612357T	TCF3	NM_003200.5(TCF3):c.1823-508G>A	coding	Pathogenic
19	1615394	C	T	C1615394T	TCF3	NM_003200.5(TCF3):c.1713G>A:p.Glu571=	coding	Benign
19	1615490	G	T	G1615490T	TCF3	NM_003200.5(TCF3):c.1617C>A:p.Pro539=	coding	Benign
19	1615733	G	C	G1615733C	TCF3	NM_003200.5(TCF3):c.1539C>G:p.His513Gln	coding	Benign
19	1619136	C	G	C1619136G	TCF3	NM_003200.5(TCF3):c.1425G>C:p.Leu475=	coding	Benign
19	1619309	C	A	C1619309A	TCF3	NM_003200.5(TCF3):c.1326+7G>T	noncoding	Benign
19	1619309	C	T	C1619309T	TCF3	NM_003200.5(TCF3):c.1326+7G>A	noncoding	Benign
19	1619793	C	T	C1619793T	TCF3	NM_003200.5(TCF3):c.1154G>A:p.Gly385Asp	coding	Benign
19	1621866	C	T	C1621866T	TCF3	NM_003200.5(TCF3):c.927G>A:p.Pro309=	coding	Benign
19	1621905	G	A	G1621905A	TCF3	NM_003200.5(TCF3):c.888C>T:p.Ala296=	coding	Benign/Likely_benign
19	1622111	C	T	C1622111T	TCF3	NM_003200.5(TCF3):c.765G>A:p.Pro255=	coding	Benign
19	1622126	C	T	C1622126T	TCF3	NM_003200.5(TCF3):c.750G>A:p.Pro250=	coding	Benign
19	1622373	T	C	T1622373C	TCF3	NM_003200.5(TCF3):c.592A>G:p.Thr198Ala	coding	Benign
19	1622407	T	C	T1622407C	TCF3	NM_003200.5(TCF3):c.558A>G:p.Pro186=	coding	Benign
19	1623975	C	T	C1623975T	TCF3	NM_003200.5(TCF3):c.525G>A:p.Lys175=	coding	Benign
19	1627410	C	T	C1627410T	TCF3	NM_003200.5(TCF3):c.315G>A:p.Arg105=	coding	Benign
19	1627423	T	C	T1627423C	TCF3	NM_003200.5(TCF3):c.302A>G:p.Lys101Arg	coding	Benign
19	1783078	G	A	G1783078A	ATP8B3	NM_138813.4(ATP8B3):c.3853C>T:p.Leu1285=	coding	Benign
19	1785667	G	A	G1785667A	ATP8B3	NM_138813.4(ATP8B3):c.3195C>T:p.Tyr1065=	coding	Benign
19	1789086	C	T	C1789086T	ATP8B3	NM_138813.4(ATP8B3):c.2880G>A:p.Glu960=	coding	Benign
19	1791741	G	A	G1791741A	ATP8B3	NM_138813.4(ATP8B3):c.2302+9C>T	noncoding	Benign
19	1792022	G	A	G1792022A	ATP8B3	NM_138813.4(ATP8B3):c.2169C>T:p.Asn723=	coding	Benign
19	1795985	G	A	G1795985A	ATP8B3	NM_138813.4(ATP8B3):c.1945C>T:p.Arg649Ter	coding	Benign
19	1809742	G	A	G1809742A	ATP8B3	NM_138813.4(ATP8B3):c.311-8C>T	noncoding	Benign
19	1811653	C	T	C1811653T	ATP8B3	NM_138813.4(ATP8B3):c.84G>A:p.Thr28=	coding	Benign
19	1819113	A	G	A1819113G	REXO1	NM_020695.4(REXO1):c.2669T>C:p.Val890Ala	coding	Benign
19	1827625	G	A	G1827625A	REXO1	NM_020695.4(REXO1):c.1164C>T:p.Ser388=	coding	Benign
19	1912164	G	A	G1912164A	ADAT3	NM_138422.4(ADAT3):c.117G>A:p.Pro39=	coding	Benign
19	1912263	C	G	C1912263G	ADAT3	NM_138422.4(ADAT3):c.216C>G:p.Thr72=	coding	Benign
19	1912410	G	A	G1912410A	ADAT3	NM_138422.4(ADAT3):c.363G>A:p.Ser121=	coding	Benign
19	1912477	G	A	G1912477A	ADAT3	NM_138422.4(ADAT3):c.430G>A:p.Val144Met	coding	Pathogenic
19	1912569	C	T	C1912569T	ADAT3	NM_138422.4(ADAT3):c.522C>T:p.Ser174=	coding	Benign
19	1912771	A	G	A1912771G	ADAT3	NM_138422.4(ADAT3):c.724A>G:p.Met242Val	coding	Benign
19	1912878	C	T	C1912878T	ADAT3	NM_138422.4(ADAT3):c.831C>T:p.Arg277=	coding	Benign
19	2042041	G	A	G2042041A	MKNK2	NM_199054.2(MKNK2):c.751-7C>T	noncoding	Benign
19	2110223	G	A	G2110223A	AP3D1	NM_001261826.3(AP3D1):c.3177C>T:p.Gly1059=	coding	Benign
19	2111340	T	C	T2111340C	AP3D1	NM_001261826.3(AP3D1):c.2938-8A>G	noncoding	Benign
19	2111715	C	T	C2111715T	AP3D1	NM_001261826.3(AP3D1):c.2901G>A:p.Pro967=	coding	Benign
19	2115276	G	A	G2115276A	AP3D1	NM_001261826.3(AP3D1):c.2292C>T:p.Ser764=	coding	Benign
19	2115384	C	T	C2115384T	AP3D1	NM_001261826.3(AP3D1):c.2184G>A:p.Glu728=	coding	Benign
19	2115423	G	A	G2115423A	AP3D1	NM_001261826.3(AP3D1):c.2150-5C>T	noncoding	Benign
19	2115578	G	A	G2115578A	AP3D1	NM_001261826.3(AP3D1):c.2109C>T:p.Pro703=	coding	Benign
19	2116281	G	A	G2116281A	AP3D1	NM_001261826.3(AP3D1):c.2002-3C>T	noncoding	Benign
19	2116617	T	C	T2116617C	AP3D1	NM_001261826.3(AP3D1):c.1989A>G:p.Glu663=	coding	Benign
19	2116704	G	A	G2116704A	AP3D1	NM_001261826.3(AP3D1):c.1902C>T:p.Ser634=	coding	Benign
19	2121029	G	A	G2121029A	AP3D1	NM_001261826.3(AP3D1):c.1314C>T:p.Ala438=	coding	Benign
19	2121727	C	T	C2121727T	AP3D1	NM_001261826.3(AP3D1):c.1101+7G>A	noncoding	Benign
19	2123821	G	A	G2123821A	AP3D1	NM_001261826.3(AP3D1):c.906+9C>T	noncoding	Benign
19	2123882	G	A	G2123882A	AP3D1	NM_001261826.3(AP3D1):c.857-3C>T	noncoding	Benign
19	2127142	C	T	C2127142T	AP3D1	NM_001261826.3(AP3D1):c.856+10G>A	noncoding	Benign
19	2129395	G	A	G2129395A	AP3D1	NM_001261826.3(AP3D1):c.655C>T:p.Leu219=	coding	Benign
19	2130466	G	A	G2130466A	AP3D1	NM_001261826.3(AP3D1):c.534C>T:p.Pro178=	coding	Benign
19	2130541	C	T	C2130541T	AP3D1	NM_001261826.3(AP3D1):c.463-4G>A	noncoding	Benign
19	2138720	A	G	A2138720G	AP3D1	NM_001261826.3(AP3D1):c.97-6T>C	noncoding	Benign
19	2164274	C	G	C2164274G	DOT1L	NM_032482.3(DOT1L):c.81+9C>G	noncoding	Benign
19	2189750	G	A	G2189750A	DOT1L	NM_032482.3(DOT1L):c.219G>A:p.Arg73=	coding	Benign
19	2191212	C	T	C2191212T	DOT1L	NM_032482.3(DOT1L):c.465C>T:p.Asp155=	coding	Benign
19	2193789	C	T	C2193789T	DOT1L	NM_032482.3(DOT1L):c.588+6C>T	noncoding	Benign
19	2210498	C	T	C2210498T	DOT1L	NM_032482.3(DOT1L):c.1104C>T:p.Ala368=	coding	Benign
19	2217906	C	T	C2217906T	DOT1L	NM_032482.3(DOT1L):c.2679C>T:p.Arg893=	coding	Benign
19	2222373	C	T	C2222373T	DOT1L	NM_032482.3(DOT1L):c.3204C>T:p.Thr1068=	coding	Benign
19	2222472	A	T	A2222472T	DOT1L	NM_032482.3(DOT1L):c.3303A>T:p.Ala1101=	coding	Benign
19	2223283	C	T	C2223283T	DOT1L	NM_032482.3(DOT1L):c.3393C>T:p.Val1131=	coding	Benign
19	2226878	G	A	G2226878A	DOT1L	NM_032482.3(DOT1L):c.4357G>A:p.Gly1453Ser	coding	Benign
19	2227131	G	C	G2227131C	DOT1L	NM_032482.3(DOT1L):c.4606+4G>C	noncoding	Benign
19	2249478	G	T	G2249478T	AMH	NM_000479.5(AMH):c.146G>T:p.Ser49Ile	coding	Benign
19	2249632	C	T	C2249632T	AMH	NM_000479.5(AMH):c.300C>T:p.Phe100=	coding	Benign
19	2249700	G	A	G2249700A	AMH	NM_000479.5(AMH):c.368G>A:p.Arg123Gln	coding	Benign
19	2250667	C	T	C2250667T	AMH	NM_000479.5(AMH):c.571C>T:p.Arg191Ter	coding	Pathogenic
19	2251248	A	G	A2251248G	AMH	NM_000479.5(AMH):c.974A>G:p.Gln325Arg	coding	Benign/Likely_benign
19	2251418	G	T	G2251418T	AMH	NM_000479.5(AMH):c.1144G>T:p.Glu382Ter	coding	Pathogenic
19	2251513	T	A	T2251513A	AMH	NM_000479.5(AMH):c.1239T>A:p.Gly413=	coding	Benign
19	2251774	C	T	C2251774T	AMH	NM_000479.5(AMH):c.1500C>T:p.Asn500=	coding	Benign
19	2389806	C	T	C2389806T	TMPRSS9	NM_182973.2(TMPRSS9):c.21C>T:p.Asp7=	coding	Benign
19	2413790	G	A	G2413790A	TMPRSS9	NM_182973.2(TMPRSS9):c.1243G>A:p.Ala415Thr	coding	Benign
19	2418030	G	A	G2418030A	TMPRSS9	NM_182973.2(TMPRSS9):c.1944G>A:p.Ala648=	coding	Benign
19	2422193	G	A	G2422193A	TMPRSS9	NM_182973.2(TMPRSS9):c.2392G>A:p.Gly798Arg	coding	Benign
19	2425186	A	G	A2425186G	TMPRSS9	NM_182973.2(TMPRSS9):c.2800A>G:p.Ile934Val	coding	Benign
19	2426039	C	T	C2426039T	TMPRSS9	NM_012458.4(TIMM13):c.*909G>A	coding	Benign
19	2432452	C	G	C2432452G	LMNB2	NM_032737.4(LMNB2):c.1554G>C:p.Thr518=	coding	Benign
19	2433901	C	T	C2433901T	LMNB2	NM_032737.4(LMNB2):c.1407G>A:p.Ser469=	coding	Benign
19	2434061	C	A	C2434061A	LMNB2	NM_032737.4(LMNB2):c.1247G>T:p.Arg416Leu	coding	Benign
19	2434857	G	T	G2434857T	LMNB2	NM_032737.4(LMNB2):c.912C>A:p.Arg304=	coding	Benign
19	2435052	G	A	G2435052A	LMNB2	NM_032737.4(LMNB2):c.804C>T:p.Asp268=	coding	Benign/Likely_benign
19	2435152	C	T	C2435152T	LMNB2	NM_032737.4(LMNB2):c.704G>A:p.Arg235Gln	coding	Benign/Likely_benign
19	2438464	G	A	G2438464A	LMNB2	NM_032737.4(LMNB2):c.469C>T:p.His157Tyr	coding	Pathogenic
19	2438531	G	A	G2438531A	LMNB2	NM_032737.4(LMNB2):c.402C>T:p.Ser134=	coding	Benign/Likely_benign
19	2456679	G	C	G2456679C	LMNB2	NM_032737.4(LMNB2):c.255C>G:p.Thr85=	coding	Benign
19	2456879	C	T	C2456879T	LMNB2	NM_032737.4(LMNB2):c.55G>A:p.Ala19Thr	coding	Benign
19	2733190	C	T	C2733190T	SLC39A3	NM_144564.5(SLC39A3):c.506G>A:p.Arg169His	coding	Benign
19	2759289	C	T	C2759289T	SGTA	NM_003021.4(SGTA):c.705G>A:p.Ser235=	coding	Benign
19	2767212	C	T	C2767212T	SGTA	NM_003021.4(SGTA):c.216G>A:p.Pro72=	coding	Benign
19	2834444	C	T	C2834444T	ZNF554	NM_001102651.2(ZNF554):c.1209C>T:p.Thr403=	coding	Benign
19	2933651	G	C	G2933651C	ZNF77	NM_021217.3(ZNF77):c.1476C>G:p.Tyr492Ter	coding	Benign
19	2934604	A	C	A2934604C	ZNF77	NM_021217.3(ZNF77):c.523T>G:p.Ser175Ala	coding	Benign
19	2936577	A	G	A2936577G	ZNF77	NM_021217.3(ZNF77):c.258T>C:p.Asn86=	coding	Benign
19	2989175	C	T	C2989175T	TLE6	NM_001143986.2(TLE6):c.855C>T:p.His285=	coding	Benign
19	2989717	C	T	C2989717T	TLE6	NM_001143986.2(TLE6):c.1176C>T:p.Asn392=	coding	Benign
19	2991885	C	T	C2991885T	TLE6	NM_001143986.2(TLE6):c.1287C>T:p.Val429=	coding	Benign
19	2993515	C	T	C2993515T	TLE6	NM_001143986.2(TLE6):c.1470C>T:p.Ser490=	coding	Benign
19	2993574	C	A	C2993574A	TLE6	NM_001143986.2(TLE6):c.1529C>A:p.Ser510Tyr	coding	Pathogenic
19	2993589	G	A	G2993589A	TLE6	NM_001143986.2(TLE6):c.1537+7G>A	noncoding	Benign
19	2994894	C	T	C2994894T	TLE6	NM_001143986.2(TLE6):c.1615-6C>T	noncoding	Benign
19	2994977	C	T	C2994977T	TLE6	NM_001143986.2(TLE6):c.1692C>T:p.His564=	coding	Benign
19	3110153	G	A	G3110153A	GNA11	NM_002067.5(GNA11):c.141G>A:p.Thr47=	coding	Benign
19	3110190	C	T	C3110190T	GNA11	NM_002067.5(GNA11):c.178C>T:p.Arg60Cys	coding	Pathogenic
19	3110191	G	T	G3110191T	GNA11	NM_002067.5(GNA11):c.179G>T:p.Arg60Leu	coding	Pathogenic
19	3110201	C	T	C3110201T	GNA11	NM_002067.5(GNA11):c.189C>T:p.His63=	coding	Benign
19	3110205	G	A	G3110205A	GNA11	NM_002067.5(GNA11):c.193G>A:p.Ala65Thr	coding	Benign
19	3110246	C	T	C3110246T	GNA11	NM_002067.5(GNA11):c.234C>T:p.Leu78=	coding	Benign
19	3110342	G	A	G3110342A	GNA11	NM_002067.5(GNA11):c.321+9G>A	noncoding	Benign
19	3110351	T	G	T3110351G	GNA11	NM_002067.5(GNA11):c.321+18T>G	noncoding	Benign
19	3113412	T	A	T3113412A	GNA11	NM_002067.5(GNA11):c.404T>A:p.Leu135Gln	coding	Pathogenic
19	3115009	G	A	G3115009A	GNA11	NM_002067.5(GNA11):c.542G>A:p.Arg181Gln	coding	Pathogenic
19	3118944	A	C	A3118944C	GNA11	NM_002067.5(GNA11):c.626A>C:p.Gln209Pro	coding	Pathogenic/Likely_pathogenic
19	3118944	A	T	A3118944T	GNA11	NM_002067.5(GNA11):c.626A>T:p.Gln209Leu	coding	Pathogenic/Likely_pathogenic
19	3118950	C	G	C3118950G	GNA11	NM_002067.5(GNA11):c.632C>G:p.Ser211Trp	coding	Pathogenic
19	3119186	T	G	T3119186G	GNA11	NM_002067.5(GNA11):c.736-20T>G	noncoding	Benign
19	3119200	C	T	C3119200T	GNA11	NM_002067.5(GNA11):c.736-6C>T	noncoding	Benign
19	3119241	C	T	C3119241T	GNA11	NM_002067.5(GNA11):c.771C>T:p.Thr257=	coding	Benign
19	3119367	G	C	G3119367C	GNA11	NM_002067.5(GNA11):c.889+8G>C	noncoding	Benign
19	3121122	C	G	C3121122G	GNA11	NM_002067.5(GNA11):c.1023C>G:p.Phe341Leu	coding	Pathogenic
19	3150141	G	A	G3150141A	GNA15	NM_002068.4(GNA15):c.341G>A:p.Ser114Asn	coding	Benign
19	3151782	G	A	G3151782A	GNA15	NM_002068.4(GNA15):c.561G>A:p.Met187Ile	coding	Benign
19	3157796	C	T	C3157796T	GNA15	NM_002068.4(GNA15):c.813C>T:p.Ser271=	coding	Benign
19	3179077	G	A	G3179077A	S1PR4	NM_003775.4(S1PR4):c.285G>A:p.Thr95=	coding	Benign
19	3179908	G	A	G3179908A	S1PR4	NM_003775.4(S1PR4):c.1116G>A:p.Arg372=	coding	Benign
19	3196286	C	T	C3196286T	NCLN	NM_020170.4(NCLN):c.615+9C>T	noncoding	Benign
19	3207400	G	A	G3207400A	NCLN	NM_020170.4(NCLN):c.1563G>A:p.Pro521=	coding	Benign
19	3544876	G	A	G3544876A	MFSD12	NM_174983.5(MFSD12):c.1353C>T:p.Gly451=	coding	Benign
19	3545024	C	T	C3545024T	MFSD12	NM_174983.5(MFSD12):c.1290-85G>A	noncoding	Benign
19	3585666	G	A	G3585666A	GIPC3	NM_133261.3(GIPC3):c.69G>A:p.Ala23=	coding	Benign/Likely_benign
19	3585729	G	C	G3585729C	GIPC3	NM_133261.3(GIPC3):c.132G>C:p.Ala44=	coding	Benign/Likely_benign
19	3585733	G	A	G3585733A	GIPC3	NM_133261.3(GIPC3):c.136G>A:p.Gly46Arg	coding	Pathogenic
19	3585833	C	T	C3585833T	GIPC3	NM_133261.3(GIPC3):c.225+11C>T	noncoding	Benign
19	3586488	C	G	C3586488G	GIPC3	NM_133261.3(GIPC3):c.226-7C>G	noncoding	Benign
19	3586545	G	A	G3586545A	GIPC3	NM_133261.3(GIPC3):c.276G>A:p.Leu92=	coding	Benign
19	3586681	G	A	G3586681A	GIPC3	NM_133261.3(GIPC3):c.411+1G>A	coding	Pathogenic
19	3586967	C	T	C3586967T	GIPC3	NM_133261.3(GIPC3):c.565C>T:p.Arg189Cys	coding	Pathogenic
19	3587004	G	T	G3587004T	GIPC3	NM_133261.3(GIPC3):c.592+10G>T	noncoding	Benign
19	3589415	T	C	T3589415C	GIPC3	NM_133261.3(GIPC3):c.593-28T>C	noncoding	Benign
19	3589437	C	T	C3589437T	GIPC3	NM_133261.3(GIPC3):c.593-6C>T	noncoding	Benign
19	3589512	C	T	C3589512T	GIPC3	NM_133261.3(GIPC3):c.662C>T:p.Thr221Ile	coding	Pathogenic
19	3589819	G	A	G3589819A	GIPC3	NM_133261.3(GIPC3):c.706-12G>A	noncoding	Benign
19	3589849	G	T	G3589849T	GIPC3	NM_133261.3(GIPC3):c.724G>T:p.Glu242Ter	coding	Pathogenic
19	3589892	G	A	G3589892A	GIPC3	NM_133261.3(GIPC3):c.767G>A:p.Gly256Asp	coding	Pathogenic
19	3589910	T	G	T3589910G	GIPC3	NM_133261.3(GIPC3):c.785T>G:p.Leu262Arg	coding	Pathogenic
19	3590154	G	A	G3590154A	GIPC3	NM_133261.3(GIPC3):c.903G>A:p.Trp301Ter	coding	Pathogenic
19	3595796	A	G	A3595796G	TBXA2R	NM_201636.3(TBXA2R):c.924T>C:p.Tyr308=	coding	Benign
19	3595925	G	A	G3595925A	TBXA2R	NM_201636.3(TBXA2R):c.795C>T:p.Ile265=	coding	Benign
19	3599986	C	T	C3599986T	TBXA2R	NM_001060.6(TBXA2R):c.649G>A:p.Val217Ile	coding	Benign
19	3600077	C	T	C3600077T	TBXA2R	NM_001060.6(TBXA2R):c.558G>A:p.Thr186=	coding	Benign
19	3600086	G	A	G3600086A	TBXA2R	NM_001060.6(TBXA2R):c.549C>T:p.Cys183=	coding	Benign
19	3600200	C	T	C3600200T	TBXA2R	NM_201636.3(TBXA2R):c.435G>A:p.Ser145=	coding	Benign
19	3600206	G	A	G3600206A	TBXA2R	NM_001060.6(TBXA2R):c.429C>T:p.Val143=	coding	Benign
19	3600392	G	A	G3600392A	TBXA2R	NM_201636.3(TBXA2R):c.243C>T:p.Thr81=	coding	Benign
19	3600456	C	A	C3600456A	TBXA2R	NM_001060.5(TBXA2R):c.179G>T:p.Arg60Leu	coding	Benign
19	3633446	C	T	C3633446T	PIP5K1C	NM_012398.3(PIP5K1C):c.1995G>A:p.Glu665=	coding	Benign
19	3633466	G	A	G3633466A	PIP5K1C	NM_012398.3(PIP5K1C):c.1975C>T:p.Pro659Ser	coding	Benign
19	3633475	C	T	C3633475T	PIP5K1C	NM_012398.3(PIP5K1C):c.1966G>A:p.Ala656Thr	coding	Benign
19	3638941	G	A	G3638941A	PIP5K1C	NM_012398.3(PIP5K1C):c.1863C>T:p.Gly621=	coding	Benign
19	3641740	G	A	G3641740A	PIP5K1C	NM_012398.3(PIP5K1C):c.1752C>T:p.Ser584=	coding	Benign
19	3641746	C	T	C3641746T	PIP5K1C	NM_012398.3(PIP5K1C):c.1746G>A:p.Ala582=	coding	Benign
19	3641794	T	C	T3641794C	PIP5K1C	NM_012398.3(PIP5K1C):c.1698A>G:p.Pro566=	coding	Benign
19	3644091	G	A	G3644091A	PIP5K1C	NM_012398.3(PIP5K1C):c.1506C>T:p.Asp502=	coding	Benign
19	3644118	C	T	C3644118T	PIP5K1C	NM_012398.3(PIP5K1C):c.1479G>A:p.Gly493=	coding	Benign
19	3644181	G	A	G3644181A	PIP5K1C	NM_012398.3(PIP5K1C):c.1416C>T:p.Thr472=	coding	Benign
19	3644219	C	T	C3644219T	PIP5K1C	NM_012398.3(PIP5K1C):c.1378G>A:p.Gly460Ser	coding	Benign
19	3645965	G	A	G3645965A	PIP5K1C	NM_012398.3(PIP5K1C):c.1345+9C>T	noncoding	Benign
19	3647396	G	C	G3647396C	PIP5K1C	NM_012398.3(PIP5K1C):c.1212-10C>G	noncoding	Benign
19	3652037	G	A	G3652037A	PIP5K1C	NM_012398.3(PIP5K1C):c.922-6C>T	noncoding	Benign
19	3653454	C	T	C3653454T	PIP5K1C	NM_012398.3(PIP5K1C):c.757G>A:p.Asp253Asn	coding	Pathogenic
19	3653595	G	A	G3653595A	PIP5K1C	NM_012398.3(PIP5K1C):c.622-6C>T	noncoding	Benign
19	3656459	G	A	G3656459A	PIP5K1C	NM_012398.3(PIP5K1C):c.567C>T:p.Thr189=	coding	Benign
19	3661062	G	A	G3661062A	PIP5K1C	NM_012398.3(PIP5K1C):c.372C>T:p.Pro124=	coding	Benign
19	3661918	G	A	G3661918A	PIP5K1C	NM_012398.3(PIP5K1C):c.303C>T:p.Asp101=	coding	Benign
19	3661987	G	A	G3661987A	PIP5K1C	NM_012398.3(PIP5K1C):c.234C>T:p.Thr78=	coding	Benign
19	3730507	C	T	C3730507T	TJP3	NM_001267560.2(TJP3):c.414C>T:p.Ser138=	coding	Benign
19	3769472	G	A	G3769472A	RAX2	NM_032753.4(RAX2):c.*1149C>T	noncoding	Benign
19	3769567	G	A	G3769567A	RAX2	NM_032753.4(RAX2):c.*1054C>T	noncoding	Benign/Likely_benign
19	3769719	C	A	C3769719A	RAX2	NM_032753.4(RAX2):c.*902G>T	noncoding	Benign
19	3769755	G	A	G3769755A	RAX2	NM_032753.4(RAX2):c.*866C>T	noncoding	Benign
19	3769836	C	T	C3769836T	RAX2	NM_032753.4(RAX2):c.*785G>A	noncoding	Benign
19	3769901	C	T	C3769901T	RAX2	NM_032753.4(RAX2):c.*720G>A	noncoding	Benign
19	3769932	G	A	G3769932A	RAX2	NM_032753.4(RAX2):c.*689C>T	noncoding	Benign
19	3769941	C	T	C3769941T	RAX2	NM_032753.4(RAX2):c.*680G>A	noncoding	Benign
19	3769942	G	A	G3769942A	RAX2	NM_032753.4(RAX2):c.*679C>T	noncoding	Benign/Likely_benign
19	3769974	A	G	A3769974G	RAX2	NM_001319074.4(RAX2):c.*647T>C	noncoding	Benign
19	3770240	T	C	T3770240C	RAX2	NM_032753.4(RAX2):c.*381A>G	noncoding	Benign
19	3770430	G	A	G3770430A	RAX2	NM_032753.4(RAX2):c.*191C>T	noncoding	Benign/Likely_benign
19	3770576	G	A	G3770576A	RAX2	NM_032753.4(RAX2):c.*45C>T	noncoding	Benign/Likely_benign
19	3770767	C	G	C3770767G	RAX2	NM_032753.4(RAX2):c.409G>C:p.Gly137Arg	coding	Pathogenic
19	3770832	G	T	G3770832T	RAX2	NM_032753.4(RAX2):c.344C>A:p.Ser115Ter	coding	Pathogenic/Likely_pathogenic
19	3770894	G	A	G3770894A	RAX2	NM_032753.4(RAX2):c.282C>T:p.Ala94=	coding	Benign/Likely_benign
19	3770967	G	A	G3770967A	RAX2	NM_032753.4(RAX2):c.217-8C>T	noncoding	Benign
19	3770969	G	A	G3770969A	RAX2	NM_032753.4(RAX2):c.217-10C>T	noncoding	Benign/Likely_benign
19	3771588	G	A	G3771588A	RAX2	NM_032753.4(RAX2):c.155C>T:p.Pro52Leu	coding	Benign
19	3771698	A	C	A3771698C	RAX2	NM_032753.4(RAX2):c.45T>G:p.Gly15=	coding	Benign
19	3772164	G	A	G3772164A	RAX2	NM_032753.4(RAX2):c.-11C>T	noncoding	Benign/Likely_benign
19	3772175	C	T	C3772175T	RAX2	NM_032753.4(RAX2):c.-22G>A	noncoding	Benign/Likely_benign
19	3772210	C	T	C3772210T	RAX2	NM_032753.4(RAX2):c.-57G>A	noncoding	Benign/Likely_benign
19	3778312	G	A	G3778312A	MATK	NM_139355.3(MATK):c.1395C>T:p.Pro465=	coding	Benign
19	3789323	G	A	G3789323A	MATK	NM_002378.4(MATK):c.25C>T:p.Arg9Ter	coding	Benign
19	3880660	A	G	A3880660G	ATCAY	NM_033064.4(ATCAY):c.-390A>G	noncoding	Benign
19	3880809	C	T	C3880809T	ATCAY	NM_033064.5(ATCAY):c.-241C>T	noncoding	Benign
19	3907801	G	A	G3907801A	ATCAY	NM_033064.5(ATCAY):c.426G>A:p.Thr142=	coding	Benign/Likely_benign
19	3908260	C	T	C3908260T	ATCAY	NM_033064.5(ATCAY):c.545-8C>T	noncoding	Benign/Likely_benign
19	3908338	C	A	C3908338A	ATCAY	NM_033064.5(ATCAY):c.615C>A:p.Pro205=	coding	Benign/Likely_benign
19	3908380	C	T	C3908380T	ATCAY	NM_033064.5(ATCAY):c.647+10C>T	noncoding	Benign/Likely_benign
19	3910833	C	T	C3910833T	ATCAY	NM_033064.5(ATCAY):c.810C>T:p.Ile270=	coding	Benign
19	3910895	A	G	A3910895G	ATCAY	NM_033064.5(ATCAY):c.866+6A>G	noncoding	Benign
19	3910896	C	T	C3910896T	ATCAY	NM_033064.5(ATCAY):c.866+7C>T	noncoding	Benign/Likely_benign
19	3920752	T	C	T3920752C	ATCAY	NM_033064.5(ATCAY):c.1074-14T>C	noncoding	Benign
19	3924599	G	A	G3924599A	ATCAY	NM_033064.5(ATCAY):c.*7G>A	noncoding	Benign
19	3925078	A	C	A3925078C	ATCAY	NM_033064.5(ATCAY):c.*486A>C	noncoding	Benign
19	3925099	G	C	G3925099C	ATCAY	NM_033064.5(ATCAY):c.*507G>C	noncoding	Benign
19	3925398	A	G	A3925398G	ATCAY	NM_033064.5(ATCAY):c.*806A>G	noncoding	Benign
19	3925415	C	T	C3925415T	ATCAY	NM_033064.5(ATCAY):c.*823C>T	noncoding	Benign
19	3925568	C	G	C3925568G	ATCAY	NM_033064.5(ATCAY):c.*976C>G	noncoding	Benign
19	3925628	G	C	G3925628C	ATCAY	NM_033064.5(ATCAY):c.*1036G>C	noncoding	Benign
19	3925772	C	T	C3925772T	ATCAY	NM_033064.5(ATCAY):c.*1180C>T	noncoding	Benign
19	3925782	G	A	G3925782A	ATCAY	NM_033064.5(ATCAY):c.*1190G>A	noncoding	Benign
19	3925827	T	C	T3925827C	ATCAY	NM_033064.5(ATCAY):c.*1235T>C	noncoding	Benign
19	3926618	G	A	G3926618A	ATCAY	NM_033064.5(ATCAY):c.*2026G>A	noncoding	Benign
19	3927746	C	T	C3927746T	ATCAY	NM_033064.5(ATCAY):c.*3154C>T	noncoding	Benign
19	3927773	G	A	G3927773A	ATCAY	NM_033064.5(ATCAY):c.*3181G>A	noncoding	Benign
19	3938694	C	T	C3938694T	NMRK2	NM_001289117.1(NMRK2):c.273C>T:p.Ser91=	coding	Benign
19	3963879	C	T	C3963879T	DAPK3	NM_001348.3(DAPK3):c.594G>A:p.Ala198=	coding	Benign
19	3976601	G	A	G3976601A	EEF2	NM_001961.4(EEF2):c.2530C>T:p.Leu844=	coding	Benign
19	3976635	G	A	G3976635A	EEF2	NM_001961.4(EEF2):c.2496C>T:p.Ser832=	coding	Benign/Likely_benign
19	3976671	C	G	C3976671G	EEF2	NM_001961.4(EEF2):c.2460G>C:p.Leu820=	coding	Benign
19	3976707	C	T	C3976707T	EEF2	NM_001961.4(EEF2):c.2424G>A:p.Ala808=	coding	Benign
19	3976716	G	A	G3976716A	EEF2	NM_001961.4(EEF2):c.2415C>T:p.Gly805=	coding	Benign/Likely_benign
19	3977219	G	A	G3977219A	EEF2	NM_001961.4(EEF2):c.2379C>T:p.Ser793=	coding	Benign
19	3977267	G	A	G3977267A	EEF2	NM_001961.4(EEF2):c.2331C>T:p.Ala777=	coding	Benign
19	3977418	T	C	T3977418C	EEF2	NM_001961.4(EEF2):c.2250+10A>G	noncoding	Benign
19	3977473	G	A	G3977473A	EEF2	NM_001961.4(EEF2):c.2205C>T:p.Thr735=	coding	Benign
19	3977488	A	G	A3977488G	EEF2	NM_001961.4(EEF2):c.2190T>C:p.Tyr730=	coding	Benign
19	3977503	T	C	T3977503C	EEF2	NM_001961.4(EEF2):c.2175A>G:p.Ala725=	coding	Benign
19	3977530	G	A	G3977530A	EEF2	NM_001961.4(EEF2):c.2148C>T:p.Arg716=	coding	Benign
19	3977545	G	A	G3977545A	EEF2	NM_001961.4(EEF2):c.2133C>T:p.Ala711=	coding	Benign
19	3977563	G	A	G3977563A	EEF2	NM_001961.4(EEF2):c.2115C>T:p.His705=	coding	Benign
19	3977569	G	A	G3977569A	EEF2	NM_001961.4(EEF2):c.2109C>T:p.Asp703=	coding	Benign
19	3977809	C	T	C3977809T	EEF2	NM_001961.4(EEF2):c.2067+10G>A	noncoding	Benign
19	3977978	G	C	G3977978C	EEF2	NM_001961.4(EEF2):c.1908C>G:p.Ala636=	coding	Benign/Likely_benign
19	3978099	G	T	G3978099T	EEF2	NM_001961.4(EEF2):c.1787C>A:p.Pro596His	coding	Pathogenic
19	3978116	G	A	G3978116A	EEF2	NM_001961.4(EEF2):c.1770C>T:p.Leu590=	coding	Benign
19	3978140	C	T	C3978140T	EEF2	NM_001961.4(EEF2):c.1746G>A:p.Thr582=	coding	Benign
19	3979365	C	T	C3979365T	EEF2	NM_001961.4(EEF2):c.1677G>A:p.Lys559=	coding	Benign
19	3979374	G	T	G3979374T	EEF2	NM_001961.4(EEF2):c.1668C>A:p.Ile556=	coding	Benign
19	3979410	A	G	A3979410G	EEF2	NM_001961.4(EEF2):c.1632T>C:p.His544=	coding	Benign
19	3979844	C	T	C3979844T	EEF2	NM_001961.4(EEF2):c.1569G>A:p.Gly523=	coding	Benign
19	3979864	G	A	G3979864A	EEF2	NM_001961.4(EEF2):c.1549C>T:p.Leu517=	coding	Benign
19	3979871	C	T	C3979871T	EEF2	NM_001961.4(EEF2):c.1542G>A:p.Pro514=	coding	Benign
19	3979967	C	T	C3979967T	EEF2	NM_001961.4(EEF2):c.1446G>A:p.Thr482=	coding	Benign
19	3980074	A	C	A3980074C	EEF2	NM_001961.4(EEF2):c.1347-8T>G	noncoding	Benign
19	3980537	G	A	G3980537A	EEF2	NM_001961.4(EEF2):c.1323C>T:p.Asp441=	coding	Benign
19	3980627	G	A	G3980627A	EEF2	NM_001961.4(EEF2):c.1233C>T:p.Tyr411=	coding	Benign
19	3980645	G	A	G3980645A	EEF2	NM_001961.4(EEF2):c.1215C>T:p.Ser405=	coding	Benign
19	3980684	G	A	G3980684A	EEF2	NM_001961.4(EEF2):c.1176C>T:p.Gly392=	coding	Benign
19	3980716	G	A	G3980716A	EEF2	NM_001961.4(EEF2):c.1151-7C>T	noncoding	Benign/Likely_benign
19	3980854	G	A	G3980854A	EEF2	NM_001961.4(EEF2):c.1137C>T:p.Asp379=	coding	Benign
19	3981444	A	G	A3981444G	EEF2	NM_001961.4(EEF2):c.906T>C:p.Asp302=	coding	Benign
19	3982296	G	A	G3982296A	EEF2	NM_001961.4(EEF2):c.741C>T:p.Ala247=	coding	Benign
19	3982326	G	A	G3982326A	EEF2	NM_001961.4(EEF2):c.711C>T:p.Ala237=	coding	Benign
19	3982410	G	A	G3982410A	EEF2	NM_001961.4(EEF2):c.627C>T:p.Leu209=	coding	Benign/Likely_benign
19	3982876	G	A	G3982876A	EEF2	NM_001961.4(EEF2):c.543C>T:p.Ile181=	coding	Benign
19	3982933	G	A	G3982933A	EEF2	NM_001961.4(EEF2):c.486C>T:p.Arg162=	coding	Benign
19	3982975	G	A	G3982975A	EEF2	NM_001961.4(EEF2):c.444C>T:p.Ala148=	coding	Benign/Likely_benign
19	3983017	G	A	G3983017A	EEF2	NM_001961.4(EEF2):c.402C>T:p.Gly134=	coding	Benign
19	3983222	G	A	G3983222A	EEF2	NM_001961.4(EEF2):c.288C>T:p.Ala96=	coding	Benign
19	3983227	C	T	C3983227T	EEF2	NM_001961.4(EEF2):c.283G>A:p.Gly95Ser	coding	Benign
19	3983228	G	A	G3983228A	EEF2	NM_001961.4(EEF2):c.282C>T:p.Asp94=	coding	Benign
19	3983231	C	T	C3983231T	EEF2	NM_001961.4(EEF2):c.279G>A:p.Lys93=	coding	Benign
19	3984144	G	A	G3984144A	EEF2	NM_001961.4(EEF2):c.210C>T:p.Ile70=	coding	Benign
19	3984201	G	A	G3984201A	EEF2	NM_001961.4(EEF2):c.153C>T:p.Ala51=	coding	Benign
19	3984294	G	T	G3984294T	EEF2	NM_001961.4(EEF2):c.60C>A:p.Arg20=	coding	Benign
19	3984339	C	T	C3984339T	EEF2	NM_001961.4(EEF2):c.15G>A:p.Thr5=	coding	Benign
19	4013264	C	T	C4013264T	PIAS4	NM_015897.4(PIAS4):c.369C>T:p.Pro123=	coding	Benign
19	4033146	C	T	C4033146T	PIAS4	NM_015897.4(PIAS4):c.954C>T:p.Thr318=	coding	Benign
19	4033509	C	T	C4033509T	PIAS4	NM_015897.4(PIAS4):c.1071C>T:p.Asn357=	coding	Benign
19	4037626	C	T	C4037626T	PIAS4	NM_015897.4(PIAS4):c.1284C>T:p.Asp428=	coding	Benign
19	4090574	G	A	G4090574A	MAP2K2	NM_030662.3(MAP2K2):c.*24C>T	noncoding	Benign
19	4090579	G	A	G4090579A	MAP2K2	NM_030662.3(MAP2K2):c.*19C>T	noncoding	Benign
19	4090603	C	T	C4090603T	MAP2K2	NM_030662.3(MAP2K2):c.1198G>A:p.Val400Met	coding	Benign/Likely_benign
19	4090607	G	A	G4090607A	MAP2K2	NM_030662.4(MAP2K2):c.1194C>T:p.Thr398=	coding	Benign
19	4090639	G	A	G4090639A	MAP2K2	NM_030662.4(MAP2K2):c.1162C>T:p.Arg388Trp	coding	Benign
19	4090714	A	G	A4090714G	MAP2K2	NM_030662.4(MAP2K2):c.1093-6T>C	noncoding	Benign
19	4094471	C	T	C4094471T	MAP2K2	NM_030662.3(MAP2K2):c.1074G>A:p.Ala358=	coding	Benign
19	4094480	C	T	C4094480T	MAP2K2	NM_030662.4(MAP2K2):c.1065G>A:p.Ala355=	coding	Benign/Likely_benign
19	4094777	G	A	G4094777A	MAP2K2	NM_030662.3(MAP2K2):c.1047-279C>T	noncoding	Benign
19	4095375	C	T	C4095375T	MAP2K2	NM_030662.3(MAP2K2):c.1046+13G>A	noncoding	Benign
19	4095414	G	A	G4095414A	MAP2K2	NM_030662.4(MAP2K2):c.1020C>T:p.Pro340=	coding	Benign
19	4095429	G	A	G4095429A	MAP2K2	NM_030662.3(MAP2K2):c.1005C>T:p.Asn335=	coding	Benign
19	4095599	G	C	G4095599C	MAP2K2	NM_030662.3(MAP2K2):c.985-150C>G	noncoding	Benign
19	4097282	G	A	G4097282A	MAP2K2	NM_030662.4(MAP2K2):c.981C>T:p.Asn327=	coding	Benign/Likely_benign
19	4098949	G	A	G4098949A	MAP2K2	NM_030662.3(MAP2K2):c.919+252C>T	noncoding	Benign
19	4099189	T	C	T4099189C	MAP2K2	NM_030662.4(MAP2K2):c.919+12A>G	noncoding	Benign
19	4099217	G	A	G4099217A	MAP2K2	NM_030662.3(MAP2K2):c.903C>T:p.Pro301=	coding	Benign/Likely_benign
19	4099227	G	A	G4099227A	MAP2K2	NM_030662.4(MAP2K2):c.893C>T:p.Pro298Leu	coding	Benign
19	4099274	G	A	G4099274A	MAP2K2	NM_030662.4(MAP2K2):c.846C>T:p.Pro282=	coding	Benign
19	4099276	G	A	G4099276A	MAP2K2	NM_030662.4(MAP2K2):c.844C>T:p.Pro282Ser	coding	Benign
19	4099295	C	T	C4099295T	MAP2K2	NM_030662.3(MAP2K2):c.825G>A:p.Leu275=	coding	Benign
19	4099297	G	A	G4099297A	MAP2K2	NM_030662.4(MAP2K2):c.823C>T:p.Leu275=	coding	Benign
19	4101008	C	G	C4101008G	MAP2K2	NM_030662.4(MAP2K2):c.705+11G>C	noncoding	Benign
19	4101008	C	T	C4101008T	MAP2K2	NM_030662.4(MAP2K2):c.705+11G>A	noncoding	Benign/Likely_benign
19	4101034	C	T	C4101034T	MAP2K2	NM_030662.3(MAP2K2):c.690G>A:p.Thr230=	coding	Benign
19	4101046	G	A	G4101046A	MAP2K2	NM_030662.4(MAP2K2):c.678C>T:p.Ser226=	coding	Benign/Likely_benign
19	4101064	G	T	G4101064T	MAP2K2	NM_030662.4(MAP2K2):c.660C>A:p.Ile220=	coding	Benign
19	4101103	C	T	C4101103T	MAP2K2	NM_030662.4(MAP2K2):c.621G>A:p.Glu207=	coding	Benign/Likely_benign
19	4101121	G	A	G4101121A	MAP2K2	NM_030662.4(MAP2K2):c.603C>T:p.Leu201=	coding	Benign
19	4101151	C	T	C4101151T	MAP2K2	NM_030662.4(MAP2K2):c.581-8G>A	noncoding	Benign/Likely_benign
19	4101161	C	T	C4101161T	MAP2K2	NM_030662.3(MAP2K2):c.581-18G>A	noncoding	Benign
19	4101214	C	T	C4101214T	MAP2K2	NM_030662.3(MAP2K2):c.580+15G>A	noncoding	Benign/Likely_benign
19	4101223	C	T	C4101223T	MAP2K2	NM_030662.4(MAP2K2):c.580+6G>A	noncoding	Benign
19	4101263	C	T	C4101263T	MAP2K2	NM_030662.3(MAP2K2):c.546G>A:p.Ala182=	coding	Benign
19	4101275	G	C	G4101275C	MAP2K2	NM_030662.4(MAP2K2):c.534C>G:p.Leu178=	coding	Benign/Likely_benign
19	4101292	C	T	C4101292T	MAP2K2	NM_030662.4(MAP2K2):c.529-12G>A	noncoding	Benign/Likely_benign
19	4101295	G	A	G4101295A	MAP2K2	NM_030662.3(MAP2K2):c.529-15C>T	noncoding	Benign/Likely_benign
19	4101418	C	T	C4101418T	MAP2K2	NM_030662.3(MAP2K2):c.529-138G>A	noncoding	Benign
19	4102134	A	C	A4102134C	MAP2K2	NM_030662.3(MAP2K2):c.528+242T>G	noncoding	Benign
19	4102139	A	G	A4102139G	MAP2K2	NM_030662.3(MAP2K2):c.528+237T>C	noncoding	Benign
19	4102330	G	A	G4102330A	MAP2K2	NM_030662.3(MAP2K2):c.528+46C>T	noncoding	Benign
19	4102356	T	C	T4102356C	MAP2K2	NM_030662.3(MAP2K2):c.528+20A>G	noncoding	Benign
19	4102379	G	A	G4102379A	MAP2K2	NM_030662.4(MAP2K2):c.525C>T:p.Ile175=	coding	Benign
19	4102406	G	A	G4102406A	MAP2K2	NM_030662.4(MAP2K2):c.498C>T:p.Pro166=	coding	Benign
19	4102451	G	A	G4102451A	MAP2K2	NM_030662.4(MAP2K2):c.453C>T:p.Asp151=	coding	Benign
19	4110410	T	C	T4110410C	MAP2K2	NM_030662.3(MAP2K2):c.450+99A>G	noncoding	Benign
19	4110492	G	A	G4110492A	MAP2K2	NM_030662.3(MAP2K2):c.450+17C>T	noncoding	Benign/Likely_benign
19	4110494	C	A	C4110494A	MAP2K2	NM_030662.4(MAP2K2):c.450+15G>T	noncoding	Benign
19	4110539	G	A	G4110539A	MAP2K2	NM_030662.4(MAP2K2):c.420C>T:p.Asp140=	coding	Benign
19	4110554	C	G	C4110554G	MAP2K2	NM_030662.4(MAP2K2):c.405G>C:p.Gly135=	coding	Benign
19	4110558	T	C	T4110558C	MAP2K2	NM_030662.4(MAP2K2):c.401A>G:p.Tyr134Cys	coding	Pathogenic
19	4110576	G	A	G4110576A	MAP2K2	NM_030662.3(MAP2K2):c.383C>T:p.Pro128Leu	coding	Pathogenic
19	4110576	G	T	G4110576T	MAP2K2	NM_030662.3(MAP2K2):c.383C>A:p.Pro128Gln	coding	Pathogenic
19	4110583	T	C	T4110583C	MAP2K2	NM_030662.3(MAP2K2):c.376A>G:p.Asn126Asp	coding	Pathogenic
19	4117401	C	T	C4117401T	MAP2K2	NM_030662.3(MAP2K2):c.303+18G>A	noncoding	Benign
19	4117407	C	T	C4117407T	MAP2K2	NM_030662.4(MAP2K2):c.303+12G>A	noncoding	Benign/Likely_benign
19	4117408	G	A	G4117408A	MAP2K2	NM_030662.4(MAP2K2):c.303+11C>T	noncoding	Benign
19	4117411	G	C	G4117411C	MAP2K2	NM_030662.4(MAP2K2):c.303+8C>G	noncoding	Benign
19	4117431	G	T	G4117431T	MAP2K2	NM_030662.3(MAP2K2):c.291C>A:p.Ile97=	coding	Benign
19	4117476	G	A	G4117476A	MAP2K2	NM_030662.4(MAP2K2):c.246C>T:p.Asn82=	coding	Benign/Likely_benign
19	4117497	G	A	G4117497A	MAP2K2	NM_030662.3(MAP2K2):c.225C>T:p.Ile75=	coding	Benign
19	4117530	G	A	G4117530A	MAP2K2	NM_030662.4(MAP2K2):c.192C>T:p.Val64=	coding	Benign
19	4117541	T	C	T4117541C	MAP2K2	NM_030662.3(MAP2K2):c.181A>G:p.Lys61Glu	coding	Pathogenic/Likely_pathogenic
19	4117551	A	T	A4117551T	MAP2K2	NM_030662.3(MAP2K2):c.171T>A:p.Phe57Leu	coding	Pathogenic
19	4117552	A	C	A4117552C	MAP2K2	NM_030662.3(MAP2K2):c.170T>G:p.Phe57Cys	coding	Pathogenic
19	4117553	A	C	A4117553C	MAP2K2	NM_030662.3(MAP2K2):c.169T>G:p.Phe57Val	coding	Pathogenic
19	4117553	A	G	A4117553G	MAP2K2	NM_030662.3(MAP2K2):c.169T>C:p.Phe57Leu	coding	Pathogenic
19	4117581	G	A	G4117581A	MAP2K2	NM_030662.3(MAP2K2):c.141C>T:p.Asp47=	coding	Benign
19	4117649	T	G	T4117649G	MAP2K2	NM_030662.3(MAP2K2):c.93-20A>C	noncoding	Benign
19	4123843	C	T	C4123843T	MAP2K2	NM_030662.4(MAP2K2):c.33G>A:p.Ala11=	coding	Benign/Likely_benign
19	4124081	C	A	C4124081A	MAP2K2	NM_030662.3(MAP2K2):c.-206G>T	noncoding	Benign
19	4124144	C	T	C4124144T	MAP2K2	NM_030662.3(MAP2K2):c.-269G>A	noncoding	Benign
19	4124160	C	A	C4124160A	MAP2K2	NM_030662.3(MAP2K2):c.-285G>T	noncoding	Benign
19	4124241	C	T	C4124241T	MAP2K2	NM_030662.3(MAP2K2):c.-366G>A	noncoding	Benign
19	4171828	G	A	G4171828A	CREB3L3	NM_032607.3(CREB3L3):c.1245G>A:p.Thr415=	coding	Benign
19	4171930	A	G	A4171930G	CREB3L3	NM_032607.3(CREB3L3):c.1347A>G:p.Ser449=	coding	Benign
19	4174862	C	T	C4174862T	SIRT6	NM_016539.4(SIRT6):c.823G>A:p.Ala275Thr	coding	Benign
19	4231326	C	T	C4231326T	EBI3	NM_005755.3(EBI3):c.200+3C>T	noncoding	Benign
19	4234696	C	T	C4234696T	EBI3	NM_005755.3(EBI3):c.409C>T:p.Leu137=	coding	Benign
19	4262039	C	T	C4262039T	YJU2	NM_018074.6(YJU2):c.633C>T:p.Ser211=	coding	Benign
19	4292689	G	C	G4292689C	TMIGD2	NM_144615.2(TMIGD2):c.759C>G:p.Gly253=	coding	Benign
19	4298067	C	T	C4298067T	TMIGD2	NM_144615.2(TMIGD2):c.325G>A:p.Ala109Thr	coding	Benign
19	4298201	G	A	G4298201A	TMIGD2	NM_144615.2(TMIGD2):c.191C>T:p.Ala64Val	coding	Benign
19	4298244	T	G	T4298244G	TMIGD2	NM_144615.2(TMIGD2):c.148A>C:p.Thr50Pro	coding	Benign
19	4298248	C	T	C4298248T	TMIGD2	NM_144615.2(TMIGD2):c.144G>A:p.Gln48=	coding	Benign
19	4302374	C	T	C4302374T	TMIGD2	NM_144615.2(TMIGD2):c.12G>A:p.Pro4=	coding	Benign
19	4307887	G	A	G4307887A	FSD1	NM_024333.3(FSD1):c.249G>A:p.Gln83=	coding	Benign
19	4307923	G	A	G4307923A	FSD1	NM_024333.3(FSD1):c.285G>A:p.Glu95=	coding	Benign
19	4307992	C	G	C4307992G	FSD1	NM_024333.3(FSD1):c.345+9C>G	noncoding	Benign
19	4311918	G	A	G4311918A	FSD1	NM_024333.3(FSD1):c.567G>A:p.Pro189=	coding	Benign
19	4318497	C	T	C4318497T	FSD1	NM_024333.3(FSD1):c.951C>T:p.Ser317=	coding	Benign
19	4323053	C	T	C4323053T	FSD1	NM_024333.3(FSD1):c.1107C>T:p.Phe369=	coding	Benign
19	4323056	C	T	C4323056T	FSD1	NM_024333.3(FSD1):c.1110C>T:p.Gly370=	coding	Benign
19	4361642	G	A	G4361642A	SH3GL1	NM_003025.4(SH3GL1):c.1065C>T:p.Phe355=	coding	Benign
19	4365591	C	T	C4365591T	SH3GL1	NM_003025.4(SH3GL1):c.222G>A:p.Val74=	coding	Benign
19	4409009	C	G	C4409009G	CHAF1A	NM_005483.3(CHAF1A):c.210C>G:p.Ala70=	coding	Benign
19	4511718	T	C	T4511718C	PLIN4	NM_001367868.2(PLIN4):c.2242A>G:p.Ile748Val	coding	Benign
19	4544289	T	G	T4544289G	SEMA6B	NM_032108.4(SEMA6B):c.1979A>C:p.Gln660Pro	coding	Benign
19	4544330	C	T	C4544330T	SEMA6B	NM_032108.4(SEMA6B):c.1938G>A:p.Glu646=	coding	Benign
19	4548018	G	A	G4548018A	SEMA6B	NM_032108.4(SEMA6B):c.1601+9C>T	noncoding	Benign
19	4550846	G	T	G4550846T	SEMA6B	NM_032108.4(SEMA6B):c.1074C>A:p.Pro358=	coding	Benign
19	4552648	G	A	G4552648A	SEMA6B	NM_032108.4(SEMA6B):c.772-9C>T	noncoding	Benign
19	4558395	C	T	C4558395T	SEMA6B	NM_032108.4(SEMA6B):c.63G>A:p.Gly21=	coding	Benign
19	4558410	C	A	C4558410A	SEMA6B	NM_032108.4(SEMA6B):c.48G>T:p.Leu16=	coding	Benign
19	4688818	G	T	G4688818T	DPP9	NM_139159.5(DPP9):c.1824C>A:p.Gly608=	coding	Benign
19	4689623	C	T	C4689623T	DPP9	NM_139159.5(DPP9):c.1696G>A:p.Glu566Lys	coding	Benign
19	4702053	G	A	G4702053A	DPP9	NM_139159.5(DPP9):c.986C>T:p.Thr329Met	coding	Benign
19	4702073	A	G	A4702073G	DPP9	NM_139159.5(DPP9):c.966T>C:p.Pro322=	coding	Benign
19	4704180	G	C	G4704180C	DPP9	NM_139159.5(DPP9):c.551C>G:p.Ala184Gly	coding	Benign
19	4714145	G	A	G4714145A	DPP9	NM_139159.5(DPP9):c.249C>T:p.His83=	coding	Benign
19	4816229	G	A	G4816229A	TICAM1	NM_182919.4(TICAM1):c.*10C>T	noncoding	Benign
19	4816575	C	T	C4816575T	TICAM1	NM_182919.3(TICAM1):c.1803G>A:p.Ala601=	coding	Benign
19	4816615	T	G	T4816615G	TICAM1	NM_182919.3(TICAM1):c.1763A>C:p.Gln588Pro	coding	Benign
19	4816707	G	A	G4816707A	TICAM1	NM_182919.4(TICAM1):c.1671C>T:p.Asp557=	coding	Benign
19	4817666	A	G	A4817666G	TICAM1	NM_182919.3(TICAM1):c.712T>C:p.Leu238=	coding	Benign
19	4818072	C	T	C4818072T	TICAM1	NM_182919.3(TICAM1):c.306G>A:p.Leu102=	coding	Benign
19	4818155	G	A	G4818155A	TICAM1	NM_182919.3(TICAM1):c.223C>T:p.Arg75Cys	coding	Benign
19	4818174	C	A	C4818174A	TICAM1	NM_182919.3(TICAM1):c.204G>T:p.Ala68=	coding	Benign
19	4818283	G	A	G4818283A	TICAM1	NM_182919.3(TICAM1):c.95C>T:p.Thr32Ile	coding	Benign
19	4818366	T	C	T4818366C	TICAM1	NM_182919.4(TICAM1):c.12A>G:p.Thr4=	coding	Benign
19	4852062	C	T	C4852062T	PLIN3	NM_005817.5(PLIN3):c.588G>A:p.Ser196=	coding	Benign
19	4859632	C	T	C4859632T	PLIN3	NM_005817.5(PLIN3):c.306G>A:p.Lys102=	coding	Benign
19	5047472	A	G	A5047472G	KDM4B	NM_015015.3(KDM4B):c.433-4A>G	noncoding	Benign
19	5047538	C	T	C5047538T	KDM4B	NM_015015.3(KDM4B):c.495C>T:p.Cys165=	coding	Benign
19	5082468	C	A	C5082468A	KDM4B	NM_015015.3(KDM4B):c.882C>A:p.Thr294=	coding	Benign
19	5082486	C	T	C5082486T	KDM4B	NM_015015.3(KDM4B):c.900C>T:p.Tyr300=	coding	Benign
19	5131080	C	T	C5131080T	KDM4B	NM_015015.3(KDM4B):c.1320C>T:p.Asp440=	coding	Benign
19	5131137	C	T	C5131137T	KDM4B	NM_015015.3(KDM4B):c.1377C>T:p.Phe459=	coding	Benign
19	5134016	G	A	G5134016A	KDM4B	NM_015015.3(KDM4B):c.2040G>A:p.Thr680=	coding	Benign
19	5144304	C	T	C5144304T	KDM4B	NM_015015.3(KDM4B):c.2793C>T:p.Asn931=	coding	Benign
19	5144337	C	T	C5144337T	KDM4B	NM_015015.3(KDM4B):c.2826C>T:p.Ala942=	coding	Benign
19	5144908	C	T	C5144908T	KDM4B	NM_015015.3(KDM4B):c.3021+6C>T	noncoding	Benign
19	5150460	C	T	C5150460T	KDM4B	NM_015015.3(KDM4B):c.3114+10C>T	noncoding	Benign
19	5211601	A	G	A5211601G	PTPRS	NM_002850.4(PTPRS):c.5223T>C:p.Ile1741=	coding	Benign
19	5211613	G	A	G5211613A	PTPRS	NM_002850.4(PTPRS):c.5211C>T:p.Asn1737=	coding	Benign
19	5212094	G	A	G5212094A	PTPRS	NM_002850.4(PTPRS):c.4926C>T:p.His1642=	coding	Benign
19	5212256	G	A	G5212256A	PTPRS	NM_002850.4(PTPRS):c.4770-6C>T	noncoding	Benign
19	5219945	G	A	G5219945A	PTPRS	NM_002850.4(PTPRS):c.3759C>T:p.Ser1253=	coding	Benign
19	5220301	G	A	G5220301A	PTPRS	NM_002850.4(PTPRS):c.3508C>T:p.Leu1170=	coding	Benign
19	5221113	G	A	G5221113A	PTPRS	NM_002850.4(PTPRS):c.3342C>T:p.Thr1114=	coding	Benign
19	5222876	G	A	G5222876A	PTPRS	NM_002850.4(PTPRS):c.2916C>T:p.Ala972=	coding	Benign
19	5223218	G	A	G5223218A	PTPRS	NM_002850.4(PTPRS):c.2574C>T:p.Thr858=	coding	Benign
19	5225854	C	T	C5225854T	PTPRS	NM_002850.4(PTPRS):c.2377-10G>A	noncoding	Benign
19	5231374	G	A	G5231374A	PTPRS	NM_002850.4(PTPRS):c.2091C>T:p.Val697=	coding	Benign
19	5245783	C	G	C5245783G	PTPRS	NM_002850.4(PTPRS):c.981G>C:p.Thr327=	coding	Benign
19	5262968	G	C	G5262968C	PTPRS	NM_002850.4(PTPRS):c.573C>G:p.Thr191=	coding	Benign
19	5273536	C	T	C5273536T	PTPRS	NM_002850.4(PTPRS):c.285G>A:p.Pro95=	coding	Benign
19	5286108	A	T	A5286108T	PTPRS	NM_002850.4(PTPRS):c.33T>A:p.Ser11=	coding	Benign
19	5649932	C	T	C5649932T	SAFB	NM_001201338.2(SAFB):c.1155C>T:p.Pro385=	coding	Benign
19	5678650	T	C	T5678650C	MICOS13	NM_205767.2(MICOS13):c.260-2A>G	noncoding	Pathogenic
19	5679764	C	T	C5679764T	MICOS13	NM_205767.2(MICOS13):c.30-1G>A	coding	Pathogenic
19	5693344	G	A	G5693344A	LONP1	NM_004793.4(LONP1):c.2657C>T:p.Thr886Met	coding	Benign
19	5693436	G	A	G5693436A	LONP1	NM_004793.4(LONP1):c.2565C>T:p.Ser855=	coding	Benign
19	5693546	G	A	G5693546A	LONP1	NM_004793.4(LONP1):c.2538+6C>T	noncoding	Benign
19	5693609	C	T	C5693609T	LONP1	NM_004793.4(LONP1):c.2481G>A:p.Gln827=	coding	Benign
19	5693698	C	T	C5693698T	LONP1	NM_004793.4(LONP1):c.2392G>A:p.Gly798Ser	coding	Benign/Likely_benign
19	5693717	A	G	A5693717G	LONP1	NM_004793.4(LONP1):c.2373T>C:p.Asp791=	coding	Benign
19	5693737	T	C	T5693737C	LONP1	NM_004793.4(LONP1):c.2353A>G:p.Arg785Gly	coding	Pathogenic
19	5694457	C	G	C5694457G	LONP1	NM_004793.4(LONP1):c.2250G>C:p.Val750=	coding	Benign
19	5694517	G	A	G5694517A	LONP1	NM_004793.4(LONP1):c.2190C>T:p.Gly730=	coding	Benign
19	5694536	G	A	G5694536A	LONP1	NM_004793.4(LONP1):c.2171C>T:p.Ala724Val	coding	Pathogenic
19	5694559	G	A	G5694559A	LONP1	NM_004793.4(LONP1):c.2155-7C>T	noncoding	Benign
19	5694836	C	A	C5694836A	LONP1	NM_004793.4(LONP1):c.2079G>T:p.Ser693=	coding	Benign
19	5694889	G	A	G5694889A	LONP1	NM_004793.4(LONP1):c.2026C>T:p.Pro676Ser	coding	Pathogenic
19	5694892	C	G	C5694892G	LONP1	NM_004793.4(LONP1):c.2023G>C:p.Val675Leu	coding	Benign
19	5696135	G	A	G5696135A	LONP1	NM_004793.4(LONP1):c.1932C>T:p.Thr644=	coding	Benign
19	5696146	C	T	C5696146T	LONP1	NM_004793.4(LONP1):c.1921G>A:p.Val641Ile	coding	Benign
19	5696246	C	T	C5696246T	LONP1	NM_004793.4(LONP1):c.1896+3G>A	noncoding	Benign
19	5696253	G	T	G5696253T	LONP1	NM_004793.4(LONP1):c.1892C>A:p.Ser631Tyr	coding	Pathogenic
19	5696661	C	T	C5696661T	LONP1	NM_004793.4(LONP1):c.1773+9G>A	noncoding	Benign
19	5696676	G	A	G5696676A	LONP1	NM_004793.4(LONP1):c.1767C>T:p.Ile589=	coding	Benign
19	5696733	G	A	G5696733A	LONP1	NM_004793.4(LONP1):c.1710C>T:p.Pro570=	coding	Benign
19	5699059	G	A	G5699059A	LONP1	NM_004793.4(LONP1):c.1653C>T:p.Gly551=	coding	Benign
19	5699194	G	A	G5699194A	LONP1	NM_004793.4(LONP1):c.1518C>T:p.Ala506=	coding	Benign
19	5700804	G	C	G5700804C	LONP1	NM_004793.4(LONP1):c.1491C>G:p.Val497=	coding	Benign
19	5705830	C	T	C5705830T	LONP1	NM_004793.4(LONP1):c.1309G>A:p.Val437Ile	coding	Benign
19	5707745	G	A	G5707745A	LONP1	NM_004793.4(LONP1):c.1014C>T:p.Leu338=	coding	Benign
19	5711919	C	T	C5711919T	LONP1	NM_004793.4(LONP1):c.722G>A:p.Arg241Gln	coding	Benign
19	5719872	C	A	C5719872A	LONP1	NM_004793.4(LONP1):c.261G>T:p.Glu87Asp	coding	Benign
19	5720063	G	T	G5720063T	LONP1	NM_004793.4(LONP1):c.70C>A:p.Leu24Met	coding	Benign/Likely_benign
19	5720115	G	A	G5720115A	LONP1	NM_004793.4(LONP1):c.18C>T:p.Gly6=	coding	Benign
19	5824309	C	T	C5824309T	NRTN	NM_004558.4(NRTN):c.144C>T:p.Asp48=	coding	Benign
19	5827754	G	A	G5827754A	NRTN	NM_004558.4(NRTN):c.175G>A:p.Ala59Thr	coding	Benign
19	5828053	G	C	G5828053C	NRTN	NM_004558.4(NRTN):c.474G>C:p.Arg158=	coding	Benign
19	5831661	G	C	G5831661C	FUT6	NM_000150.3(FUT6):c.907C>G:p.Arg303Gly	coding	Benign
19	5832198	G	A	G5832198A	FUT6	NM_000150.3(FUT6):c.370C>T:p.Pro124Ser	coding	Benign
19	5844108	G	A	G5844108A	FUT3	NM_000149.4(FUT3):c.732C>T:p.Tyr244=	coding	Benign
19	5866713	G	A	G5866713A	FUT5	NM_002034.2(FUT5):c.1013C>T:p.Thr338Met	coding	Benign
19	5866725	T	C	T5866725C	FUT5	NM_002034.2(FUT5):c.1001A>G:p.His334Arg	coding	Benign
19	5894856	T	C	T5894856C	NDUFA11	NM_175614.5(NDUFA11):c.314-2A>G	noncoding	Pathogenic
19	5896755	C	T	C5896755T	NDUFA11	NM_175614.5(NDUFA11):c.190+150G>A	noncoding	Benign
19	5897001	C	T	C5897001T	NDUFA11	NM_175614.5(NDUFA11):c.98-4G>A	noncoding	Benign
19	5903468	C	G	C5903468G	NDUFA11	NM_175614.5(NDUFA11):c.97+144G>C	noncoding	Benign
19	5903607	C	T	C5903607T	NDUFA11	NM_175614.5(NDUFA11):c.97+5G>A	noncoding	Pathogenic
19	5903655	G	A	G5903655A	NDUFA11	NM_175614.5(NDUFA11):c.54C>T:p.Cys18=	coding	Benign/Likely_benign
19	5903796	G	T	G5903796T	NDUFA11	NM_175614.4(NDUFA11):c.-88C>A	noncoding	Benign
19	5903925	T	C	T5903925C	NDUFA11	NM_175614.4(NDUFA11):c.-217A>G	noncoding	Benign
19	5908839	C	T	C5908839T	VMAC	NM_001017921.4(VMAC):c.207C>T:p.Leu69=	coding	Benign
19	5914459	G	A	G5914459A	CAPS	NM_004058.5(CAPS):c.53G>A:p.Arg18His	coding	Benign
19	5914940	C	A	C5914940A	CAPS	NM_004058.5(CAPS):c.262C>A:p.Pro88Thr	coding	Benign
19	5924882	G	A	G5924882A	RANBP3	NM_007322.3(RANBP3):c.941C>T:p.Ala314Val	coding	Benign
19	6047440	C	T	C6047440T	RFX2	NM_000635.4(RFX2):c.57G>A:p.Ser19=	coding	Benign
19	6182745	A	C	A6182745C	ACSBG2	NM_001289177.2(ACSBG2):c.907-6A>C	noncoding	Benign
19	6183147	G	A	G6183147A	ACSBG2	NM_001289177.2(ACSBG2):c.1197G>A:p.Ala399=	coding	Benign
19	6187720	C	G	C6187720G	ACSBG2	NM_001289177.2(ACSBG2):c.1802C>G:p.Pro601Arg	coding	Benign
19	6222542	G	A	G6222542A	MLLT1	NM_005934.4(MLLT1):c.689C>T:p.Ser230Leu	coding	Benign
19	6307235	C	T	C6307235T	ACER1	NM_133492.3(ACER1):c.544G>A:p.Val182Ile	coding	Benign
19	6361570	G	A	G6361570A	CLPP	NM_006012.4(CLPP):c.-5G>A	noncoding	Benign
19	6361944	A	G	A6361944G	CLPP	NM_006012.4(CLPP):c.270+4A>G	noncoding	Pathogenic
19	6362544	T	C	T6362544C	CLPP	NM_006012.4(CLPP):c.367+2T>C	noncoding	Pathogenic
19	6364442	C	T	C6364442T	CLPP	NM_006012.4(CLPP):c.368-10C>T	noncoding	Benign
19	6364444	G	A	G6364444A	CLPP	NM_006012.4(CLPP):c.368-8G>A	noncoding	Benign/Likely_benign
19	6364483	C	T	C6364483T	CLPP	NM_006012.4(CLPP):c.399C>T:p.Tyr133=	coding	Benign/Likely_benign
19	6364489	G	A	G6364489A	CLPP	NM_006012.4(CLPP):c.405G>A:p.Thr135=	coding	Benign
19	6364517	A	C	A6364517C	CLPP	NM_006012.4(CLPP):c.433A>C:p.Thr145Pro	coding	Pathogenic
19	6364524	G	C	G6364524C	CLPP	NM_006012.4(CLPP):c.440G>C:p.Cys147Ser	coding	Pathogenic
19	6364642	G	A	G6364642A	CLPP	NM_006012.4(CLPP):c.555+3G>A	noncoding	Benign
19	6366326	C	G	C6366326G	CLPP	NM_006012.4(CLPP):c.624C>G:p.Ile208Met	coding	Pathogenic
19	6368677	G	A	G6368677A	CLPP	NM_006012.4(CLPP):c.801G>A:p.Ala267=	coding	Benign/Likely_benign
19	6381487	G	A	G6381487A	GTF2F1	NM_002096.3(GTF2F1):c.899-9C>T	noncoding	Benign
19	6387520	C	T	C6387520T	GTF2F1	NM_002096.3(GTF2F1):c.366G>A:p.Thr122=	coding	Benign
19	6415866	T	G	T6415866G	KHSRP	NM_003685.3(KHSRP):c.1629A>C:p.Pro543=	coding	Benign
19	6416541	A	G	A6416541G	KHSRP	NM_003685.3(KHSRP):c.1437T>C:p.Gly479=	coding	Benign
19	6419244	G	A	G6419244A	KHSRP	NM_003685.3(KHSRP):c.564C>T:p.Pro188=	coding	Benign
19	6452315	G	A	G6452315A	SLC25A23	NM_024103.3(SLC25A23):c.1068C>T:p.Tyr356=	coding	Benign
19	6457532	C	T	C6457532T	SLC25A23	NM_024103.3(SLC25A23):c.342G>A:p.Ser114=	coding	Benign
19	6458289	G	A	G6458289A	SLC25A23	NM_024103.3(SLC25A23):c.192C>T:p.Gly64=	coding	Benign
19	6494360	G	C	G6494360C	TUBB4A	NM_006087.4(TUBB4A):c.*804C>G	noncoding	Benign
19	6494439	C	T	C6494439T	TUBB4A	NM_006087.4(TUBB4A):c.*725G>A	noncoding	Benign
19	6494464	A	T	A6494464T	TUBB4A	NM_006087.4(TUBB4A):c.*700T>A	noncoding	Benign
19	6494491	T	C	T6494491C	TUBB4A	NM_006087.4(TUBB4A):c.*673A>G	noncoding	Benign
19	6494531	G	T	G6494531T	TUBB4A	NM_006087.4(TUBB4A):c.*633C>A	noncoding	Benign
19	6494671	G	C	G6494671C	TUBB4A	NM_006087.4(TUBB4A):c.*493C>G	noncoding	Benign
19	6494735	G	A	G6494735A	TUBB4A	NM_006087.4(TUBB4A):c.*429C>T	noncoding	Benign
19	6494764	C	T	C6494764T	TUBB4A	NM_006087.4(TUBB4A):c.*400G>A	noncoding	Benign
19	6494904	C	G	C6494904G	TUBB4A	NM_006087.4(TUBB4A):c.*260G>C	noncoding	Benign
19	6495053	C	G	C6495053G	TUBB4A	NM_006087.4(TUBB4A):c.*111G>C	noncoding	Benign
19	6495064	C	T	C6495064T	TUBB4A	NM_006087.4(TUBB4A):c.*100G>A	noncoding	Benign
19	6495068	G	C	G6495068C	TUBB4A	NM_006087.4(TUBB4A):c.*96C>G	noncoding	Benign
19	6495095	G	C	G6495095C	TUBB4A	NM_006087.4(TUBB4A):c.*69C>G	noncoding	Benign
19	6495128	G	C	G6495128C	TUBB4A	NM_006087.4(TUBB4A):c.*36C>G	noncoding	Benign
19	6495161	A	G	A6495161G	TUBB4A	NM_006087.4(TUBB4A):c.*3T>C	noncoding	Benign
19	6495200	G	A	G6495200A	TUBB4A	NM_006087.4(TUBB4A):c.1299C>T:p.Gly433=	coding	Benign/Likely_benign
19	6495212	C	T	C6495212T	TUBB4A	NM_006087.4(TUBB4A):c.1287G>A:p.Thr429=	coding	Benign
19	6495271	C	T	C6495271T	TUBB4A	NM_006087.4(TUBB4A):c.1228G>A:p.Glu410Lys	coding	Pathogenic
19	6495318	A	C	A6495318C	TUBB4A	NM_006087.4(TUBB4A):c.1181T>G:p.Phe394Cys	coding	Pathogenic
19	6495327	C	A	C6495327A	TUBB4A	NM_006087.4(TUBB4A):c.1172G>T:p.Arg391Leu	coding	Pathogenic
19	6495327	C	T	C6495327T	TUBB4A	NM_006087.4(TUBB4A):c.1172G>A:p.Arg391His	coding	Pathogenic
19	6495335	C	T	C6495335T	TUBB4A	NM_006087.4(TUBB4A):c.1164G>A:p.Met388Ile	coding	Pathogenic
19	6495336	A	G	A6495336G	TUBB4A	NM_006087.4(TUBB4A):c.1163T>C:p.Met388Thr	coding	Pathogenic
19	6495400	A	G	A6495400G	TUBB4A	NM_006087.4(TUBB4A):c.1099T>C:p.Phe367Leu	coding	Pathogenic
19	6495400	A	T	A6495400T	TUBB4A	NM_006087.4(TUBB4A):c.1099T>A:p.Phe367Ile	coding	Pathogenic
19	6495404	C	T	C6495404T	TUBB4A	NM_006087.4(TUBB4A):c.1095G>A:p.Ala365=	coding	Benign/Likely_benign
19	6495408	G	T	G6495408T	TUBB4A	NM_006087.4(TUBB4A):c.1091C>A:p.Ala364Asp	coding	Pathogenic
19	6495438	C	T	C6495438T	TUBB4A	NM_006087.4(TUBB4A):c.1061G>A:p.Cys354Tyr	coding	Pathogenic
19	6495445	C	T	C6495445T	TUBB4A	NM_006087.4(TUBB4A):c.1054G>A:p.Ala352Thr	coding	Pathogenic
19	6495531	A	C	A6495531C	TUBB4A	NM_006087.4(TUBB4A):c.968T>G:p.Met323Arg	coding	Pathogenic
19	6495578	G	A	G6495578A	TUBB4A	NM_006087.4(TUBB4A):c.921C>T:p.His307=	coding	Benign
19	6495593	C	T	C6495593T	TUBB4A	NM_006087.4(TUBB4A):c.906G>A:p.Ala302=	coding	Benign
19	6495599	C	A	C6495599A	TUBB4A	NM_006087.4(TUBB4A):c.900G>T:p.Met300Ile	coding	Pathogenic
19	6495625	G	T	G6495625T	TUBB4A	NM_006087.4(TUBB4A):c.874C>A:p.Gln292Lys	coding	Pathogenic
19	6495654	C	G	C6495654G	TUBB4A	NM_006087.4(TUBB4A):c.845G>C:p.Arg282Pro	coding	Pathogenic
19	6495688	C	T	C6495688T	TUBB4A	NM_006087.4(TUBB4A):c.811G>A:p.Ala271Thr	coding	Pathogenic
19	6495714	C	T	C6495714T	TUBB4A	NM_006087.4(TUBB4A):c.785G>A:p.Arg262His	coding	Pathogenic
19	6495725	A	G	A6495725G	TUBB4A	NM_006087.4(TUBB4A):c.774T>C:p.Val258=	coding	Benign
19	6495736	C	T	C6495736T	TUBB4A	NM_006087.4(TUBB4A):c.763G>A:p.Val255Ile	coding	Pathogenic/Likely_pathogenic
19	6495754	C	T	C6495754T	TUBB4A	NM_006087.4(TUBB4A):c.745G>A:p.Asp249Asn	coding	Pathogenic
19	6495768	C	A	C6495768A	TUBB4A	NM_006087.4(TUBB4A):c.731G>T:p.Gly244Val	coding	Pathogenic
19	6495768	C	T	C6495768T	TUBB4A	NM_006087.4(TUBB4A):c.731G>A:p.Gly244Asp	coding	Pathogenic
19	6495769	C	G	C6495769G	TUBB4A	NM_006087.4(TUBB4A):c.730G>C:p.Gly244Arg	coding	Pathogenic
19	6495769	C	T	C6495769T	TUBB4A	NM_006087.4(TUBB4A):c.730G>A:p.Gly244Ser	coding	Pathogenic
19	6495783	C	A	C6495783A	TUBB4A	NM_006087.4(TUBB4A):c.716G>T:p.Cys239Phe	coding	Pathogenic
19	6495875	G	A	G6495875A	TUBB4A	NM_006087.4(TUBB4A):c.624C>T:p.Tyr208=	coding	Benign
19	6495914	A	G	A6495914G	TUBB4A	NM_006087.4(TUBB4A):c.585T>C:p.Asn195=	coding	Benign/Likely_benign
19	6495931	G	A	G6495931A	TUBB4A	NM_006087.4(TUBB4A):c.568C>T:p.His190Tyr	coding	Pathogenic
19	6495955	G	T	G6495955T	TUBB4A	NM_006087.4(TUBB4A):c.544C>A:p.Pro182Thr	coding	Pathogenic
19	6495964	C	G	C6495964G	TUBB4A	NM_006087.4(TUBB4A):c.535G>C:p.Val179Leu	coding	Pathogenic
19	6495966	G	A	G6495966A	TUBB4A	NM_006087.4(TUBB4A):c.533C>T:p.Thr178Met	coding	Pathogenic
19	6495966	G	C	G6495966C	TUBB4A	NM_006087.4(TUBB4A):c.533C>G:p.Thr178Arg	coding	Pathogenic
19	6495989	C	T	C6495989T	TUBB4A	NM_006087.4(TUBB4A):c.510G>A:p.Val170=	coding	Benign
19	6496032	C	A	C6496032A	TUBB4A	NM_006087.4(TUBB4A):c.467G>T:p.Arg156Leu	coding	Pathogenic
19	6496064	G	A	G6496064A	TUBB4A	NM_006087.4(TUBB4A):c.435C>T:p.Ser145=	coding	Benign
19	6496157	G	A	G6496157A	TUBB4A	NM_006087.4(TUBB4A):c.342C>T:p.Asp114=	coding	Benign
19	6496213	C	T	C6496213T	TUBB4A	NM_006087.4(TUBB4A):c.286G>A:p.Gly96Arg	coding	Pathogenic/Likely_pathogenic
19	6501326	G	A	G6501326A	TUBB4A	NM_006087.4(TUBB4A):c.238C>T:p.Pro80Ser	coding	Benign
19	6501354	G	A	G6501354A	TUBB4A	NM_006087.4(TUBB4A):c.210C>T:p.Pro70=	coding	Benign
19	6501375	C	T	C6501375T	TUBB4A	NM_006087.4(TUBB4A):c.189G>A:p.Ala63=	coding	Benign/Likely_benign
19	6501987	C	T	C6501987T	TUBB4A	NM_006087.4(TUBB4A):c.57+169G>A	noncoding	Benign
19	6502126	C	A	C6502126A	TUBB4A	NM_006087.4(TUBB4A):c.57+30G>T	noncoding	Benign
19	6502208	C	T	C6502208T	TUBB4A	NM_006087.4(TUBB4A):c.5G>A:p.Arg2Gln	coding	Pathogenic
19	6502209	G	A	G6502209A	TUBB4A	NM_006087.4(TUBB4A):c.4C>T:p.Arg2Trp	coding	Pathogenic
19	6502209	G	C	G6502209C	TUBB4A	NM_006087.4(TUBB4A):c.4C>G:p.Arg2Gly	coding	Pathogenic
19	6502274	G	A	G6502274A	TUBB4A	NM_006087.4(TUBB4A):c.-62C>T	coding	Benign
19	6586067	G	A	G6586067A	CD70	NM_001252.5(CD70):c.535C>T:p.Arg179Ter	coding	Pathogenic
19	6664944	G	A	G6664944A	TNFSF14	NM_001376887.1(TNFSF14):c.705C>T:p.Phe235=	coding	Benign
19	6665046	G	A	G6665046A	TNFSF14	NM_001376887.1(TNFSF14):c.603C>T:p.Ser201=	coding	Benign
19	6670013	G	A	G6670013A	TNFSF14	NM_001376887.1(TNFSF14):c.57C>T:p.Ile19=	coding	Benign
19	6677978	G	A	G6677978A	C3	NM_000064.4(C3):c.4896C>T:p.Pro1632=	coding	Benign
19	6677996	A	G	A6677996G	C3	NM_000064.4(C3):c.4878T>C:p.Thr1626=	coding	Benign/Likely_benign
19	6678441	G	T	G6678441T	C3	NM_000064.4(C3):c.4645C>A:p.Leu1549Met	coding	Benign
19	6678451	G	A	G6678451A	C3	NM_000064.4(C3):c.4635C>T:p.Tyr1545=	coding	Benign/Likely_benign
19	6678457	T	C	T6678457C	C3	NM_000064.4(C3):c.4631-2A>G	noncoding	Pathogenic
19	6678463	G	A	G6678463A	C3	NM_000064.4(C3):c.4631-8C>T	noncoding	Benign
19	6678464	G	A	G6678464A	C3	NM_000064.4(C3):c.4631-9C>T	noncoding	Benign/Likely_benign
19	6679500	C	T	C6679500T	C3	NM_000064.4(C3):c.4457-4G>A	noncoding	Benign
19	6679501	G	A	G6679501A	C3	NM_000064.4(C3):c.4457-5C>T	noncoding	Benign
19	6681980	G	A	G6681980A	C3	NM_000064.4(C3):c.4311C>T:p.Ala1437=	coding	Benign
19	6684842	G	A	G6684842A	C3	NM_000064.4(C3):c.3970-8C>T	noncoding	Benign
19	6684999	G	T	G6684999T	C3	NM_000064.4(C3):c.3958C>A:p.Arg1320=	coding	Benign
19	6686181	G	T	G6686181T	C3	NM_000064.4(C3):c.3753C>A:p.Pro1251=	coding	Benign
19	6690731	A	G	A6690731G	C3	NM_000064.4(C3):c.3391-4T>C	noncoding	Benign
19	6690733	A	G	A6690733G	C3	NM_000064.4(C3):c.3391-6T>C	noncoding	Benign
19	6690735	A	G	A6690735G	C3	NM_000064.4(C3):c.3391-8T>C	noncoding	Benign
19	6693426	C	A	C6693426A	C3	NM_000064.4(C3):c.3216G>T:p.Arg1072=	coding	Benign/Likely_benign
19	6696428	G	A	G6696428A	C3	NM_000064.4(C3):c.2901C>T:p.Leu967=	coding	Benign/Likely_benign
19	6696586	G	A	G6696586A	C3	NM_000064.4(C3):c.2863+7C>T	noncoding	Benign
19	6697395	A	G	A6697395G	C3	NM_000064.4(C3):c.2745T>C:p.Ala915=	coding	Benign
19	6697425	G	A	G6697425A	C3	NM_000064.4(C3):c.2715C>T:p.Thr905=	coding	Benign
19	6697455	G	A	G6697455A	C3	NM_000064.4(C3):c.2685C>T:p.Ser895=	coding	Benign
19	6702137	C	T	C6702137T	C3	NM_000064.4(C3):c.2430G>A:p.Ser810=	coding	Benign
19	6702146	C	G	C6702146G	C3	NM_000064.4(C3):c.2421G>C:p.Val807=	coding	Benign
19	6702173	G	A	G6702173A	C3	NM_000064.4(C3):c.2394C>T:p.Ser798=	coding	Benign/Likely_benign
19	6702587	G	A	G6702587A	C3	NM_000064.4(C3):c.2246-8C>T	noncoding	Benign
19	6707061	C	T	C6707061T	C3	NM_000064.4(C3):c.2245+15G>A	noncoding	Benign/Likely_benign
19	6707137	G	A	G6707137A	C3	NM_000064.4(C3):c.2184C>T:p.Cys728=	coding	Benign/Likely_benign
19	6709693	C	T	C6709693T	C3	NM_000064.4(C3):c.1836G>A:p.Thr612=	coding	Benign
19	6709837	C	T	C6709837T	C3	NM_000064.4(C3):c.1692G>A:p.Val564=	coding	Benign
19	6710672	C	A	C6710672A	C3	NM_000064.4(C3):c.1653G>T:p.Val551=	coding	Benign
19	6710702	G	A	G6710702A	C3	NM_000064.4(C3):c.1623C>T:p.Ser541=	coding	Benign/Likely_benign
19	6710771	G	T	G6710771T	C3	NM_000064.4(C3):c.1554C>A:p.Pro518=	coding	Benign
19	6711122	G	A	G6711122A	C3	NM_000064.4(C3):c.1344C>T:p.Thr448=	coding	Benign
19	6712493	C	T	C6712493T	C3	NM_000064.4(C3):c.1119+15G>A	noncoding	Benign
19	6713251	G	A	G6713251A	C3	NM_000064.4(C3):c.941C>T:p.Pro314Leu	coding	Benign
19	6713280	C	T	C6713280T	C3	NM_000064.4(C3):c.912G>A:p.Arg304=	coding	Benign
19	6713500	G	A	G6713500A	C3	NM_000064.4(C3):c.783C>T:p.Tyr261=	coding	Benign
19	6714024	G	A	G6714024A	C3	NM_000064.4(C3):c.741C>T:p.Asn247=	coding	Benign
19	6714262	G	A	G6714262A	C3	NM_000064.4(C3):c.600-14C>T	noncoding	Benign
19	6714363	C	T	C6714363T	C3	NM_000064.4(C3):c.588G>A:p.Pro196=	coding	Benign
19	6718376	G	C	G6718376C	C3	NM_000064.4(C3):c.304C>G:p.Arg102Gly	coding	Benign
19	6720617	G	C	G6720617C	C3	NM_000064.4(C3):c.-28C>G	noncoding	Benign
19	6751268	A	G	A6751268G	TRIP10	NM_001288962.2(TRIP10):c.*57A>G	coding	Benign
19	6751270	C	T	C6751270T	TRIP10	NM_001288962.2(TRIP10):c.*59C>T	coding	Benign
19	6751282	T	G	T6751282G	TRIP10	NM_001288962.2(TRIP10):c.*71T>G	coding	Benign
19	6772861	G	C	G6772861C	VAV1	NM_005428.4(VAV1):c.54G>C:p.Pro18=	coding	Benign
19	6821614	C	T	C6821614T	VAV1	NM_005428.4(VAV1):c.322-8C>T	noncoding	Benign
19	6822208	T	C	T6822208C	VAV1	NM_005428.4(VAV1):c.450-13T>C	noncoding	Benign
19	6825317	T	C	T6825317C	VAV1	NM_005428.4(VAV1):c.738T>C:p.Val246=	coding	Benign
19	6826619	G	A	G6826619A	VAV1	NM_005428.4(VAV1):c.835G>A:p.Val279Ile	coding	Benign
19	6828442	G	A	G6828442A	VAV1	NM_005428.4(VAV1):c.1047G>A:p.Glu349=	coding	Benign
19	6833199	G	A	G6833199A	VAV1	NM_005428.4(VAV1):c.1524G>A:p.Pro508=	coding	Benign
19	6833211	C	T	C6833211T	VAV1	NM_005428.4(VAV1):c.1536C>T:p.Thr512=	coding	Benign
19	6833220	G	A	G6833220A	VAV1	NM_005428.4(VAV1):c.1545G>A:p.Gly515=	coding	Benign
19	6837050	T	C	T6837050C	VAV1	NM_005428.4(VAV1):c.1980T>C:p.His660=	coding	Benign
19	6848052	G	A	G6848052A	VAV1	NM_005428.4(VAV1):c.2067G>A:p.Ser689=	coding	Benign
19	6850751	G	C	G6850751C	VAV1	NM_005428.4(VAV1):c.2211G>C:p.Gly737=	coding	Benign
19	6850756	C	T	C6850756T	VAV1	NM_005428.4(VAV1):c.2216C>T:p.Thr739Met	coding	Benign
19	6850765	T	C	T6850765C	VAV1	NM_005428.4(VAV1):c.2217+8T>C	noncoding	Benign
19	6887613	G	T	G6887613T	ADGRE1	NM_001974.5(ADGRE1):c.5G>T:p.Arg2Leu	coding	Benign
19	6897184	G	C	G6897184C	ADGRE1	NM_001974.5(ADGRE1):c.274G>C:p.Gly92Arg	coding	Benign
19	6913820	G	A	G6913820A	ADGRE1	NM_001974.5(ADGRE1):c.1290G>A:p.Thr430=	coding	Benign
19	6937239	C	T	C6937239T	ADGRE1	NM_001974.5(ADGRE1):c.2382-4C>T	noncoding	Benign
19	6937631	C	A	C6937631A	ADGRE1	NM_001974.5(ADGRE1):c.2638C>A:p.Pro880Thr	coding	Benign
19	6937647	C	T	C6937647T	ADGRE1	NM_001974.5(ADGRE1):c.2654C>T:p.Thr885Met	coding	Benign
19	7112254	G	A	G7112254A	INSR	NM_000208.3(INSR):c.*4802C>T	noncoding	Benign
19	7112262	A	G	A7112262G	INSR	NM_000208.3(INSR):c.*4794T>C	noncoding	Benign
19	7112454	G	A	G7112454A	INSR	NM_000208.4(INSR):c.*4602C>T	noncoding	Benign
19	7112582	G	A	G7112582A	INSR	NM_000208.4(INSR):c.*4474C>T	noncoding	Benign
19	7112634	C	A	C7112634A	INSR	NM_000208.4(INSR):c.*4422G>T	noncoding	Benign
19	7112786	C	T	C7112786T	INSR	NM_000208.4(INSR):c.*4270G>A	noncoding	Benign
19	7112838	C	G	C7112838G	INSR	NM_000208.4(INSR):c.*4218G>C	noncoding	Benign
19	7112861	A	G	A7112861G	INSR	NM_000208.4(INSR):c.*4195T>C	noncoding	Benign
19	7112870	A	G	A7112870G	INSR	NM_000208.4(INSR):c.*4186T>C	noncoding	Benign
19	7113199	G	A	G7113199A	INSR	NM_000208.4(INSR):c.*3857C>T	noncoding	Benign
19	7113270	C	G	C7113270G	INSR	NM_000208.4(INSR):c.*3786G>C	noncoding	Benign
19	7113433	T	C	T7113433C	INSR	NM_000208.4(INSR):c.*3623A>G	noncoding	Benign
19	7113464	T	C	T7113464C	INSR	NM_000208.4(INSR):c.*3592A>G	noncoding	Benign
19	7113515	G	A	G7113515A	INSR	NM_000208.4(INSR):c.*3541C>T	noncoding	Benign
19	7113593	T	C	T7113593C	INSR	NM_000208.4(INSR):c.*3463A>G	noncoding	Benign
19	7114027	A	G	A7114027G	INSR	NM_000208.4(INSR):c.*3029T>C	noncoding	Benign
19	7114202	C	A	C7114202A	INSR	NM_000208.4(INSR):c.*2854G>T	noncoding	Benign
19	7114263	G	T	G7114263T	INSR	NM_000208.4(INSR):c.*2793C>A	noncoding	Benign
19	7114277	C	T	C7114277T	INSR	NM_000208.4(INSR):c.*2779G>A	noncoding	Benign
19	7114537	C	T	C7114537T	INSR	NM_000208.4(INSR):c.*2519G>A	noncoding	Benign
19	7114554	T	C	T7114554C	INSR	NM_000208.4(INSR):c.*2502A>G	noncoding	Benign
19	7114716	T	C	T7114716C	INSR	NM_000208.4(INSR):c.*2340A>G	noncoding	Benign
19	7115046	C	T	C7115046T	INSR	NM_000208.4(INSR):c.*2010G>A	noncoding	Benign
19	7115562	C	T	C7115562T	INSR	NM_000208.4(INSR):c.*1494G>A	noncoding	Benign
19	7115624	G	A	G7115624A	INSR	NM_000208.4(INSR):c.*1432C>T	noncoding	Benign
19	7115967	T	C	T7115967C	INSR	NM_000208.4(INSR):c.*1089A>G	noncoding	Benign
19	7116272	G	C	G7116272C	INSR	NM_000208.4(INSR):c.*784C>G	noncoding	Benign
19	7116832	G	A	G7116832A	INSR	NM_000208.4(INSR):c.*224C>T	noncoding	Benign
19	7116952	T	C	T7116952C	INSR	NM_000208.4(INSR):c.*104A>G	noncoding	Benign
19	7117415	G	A	G7117415A	INSR	NM_000208.4(INSR):c.3795-5C>T	noncoding	Benign
19	7119563	C	G	C7119563G	INSR	NM_000208.4(INSR):c.3680G>C:p.Trp1227Ser	coding	Pathogenic
19	7120677	C	T	C7120677T	INSR	NM_000208.4(INSR):c.3602G>A:p.Arg1201Gln	coding	Pathogenic
19	7120678	G	A	G7120678A	INSR	NM_000208.4(INSR):c.3601C>T:p.Arg1201Trp	coding	Pathogenic
19	7120707	C	T	C7120707T	INSR	NM_000208.4(INSR):c.3572G>A:p.Arg1191Gln	coding	Pathogenic
19	7120739	C	T	C7120739T	INSR	NM_000208.4(INSR):c.3540G>A:p.Met1180Ile	coding	Pathogenic
19	7122658	G	T	G7122658T	INSR	NM_000208.4(INSR):c.3485C>A:p.Ala1162Glu	coding	Pathogenic
19	7122662	C	T	C7122662T	INSR	NM_000208.4(INSR):c.3481G>A:p.Ala1161Thr	coding	Pathogenic
19	7123020	G	A	G7123020A	INSR	NM_000208.4(INSR):c.3259-31C>T	noncoding	Benign
19	7125286	G	A	G7125286A	INSR	NM_000208.4(INSR):c.3255C>T:p.His1085=	coding	Benign
19	7125437	C	A	C7125437A	INSR	NM_000208.4(INSR):c.3104G>T:p.Gly1035Val	coding	Pathogenic
19	7125462	G	A	G7125462A	INSR	NM_000208.4(INSR):c.3079C>T:p.Arg1027Ter	coding	Pathogenic
19	7125482	C	T	C7125482T	INSR	NM_000208.4(INSR):c.3059G>A:p.Arg1020Gln	coding	Pathogenic
19	7125508	G	A	G7125508A	INSR	NM_000208.4(INSR):c.3033C>T:p.Tyr1011=	coding	Benign
19	7126626	G	T	G7126626T	INSR	NM_000208.4(INSR):c.2971C>A:p.Leu991Ile	coding	Benign/Likely_benign
19	7132125	C	T	C7132125T	INSR	NM_000208.4(INSR):c.2842+33G>A	noncoding	Benign
19	7132230	G	A	G7132230A	INSR	NM_000208.4(INSR):c.2770C>T:p.Arg924Ter	coding	Pathogenic
19	7132282	A	G	A7132282G	INSR	NM_000208.4(INSR):c.2718T>C:p.Ala906=	coding	Benign
19	7132322	G	A	G7132322A	INSR	NM_000208.4(INSR):c.2683-5C>T	noncoding	Benign
19	7141668	G	C	G7141668C	INSR	NM_000208.4(INSR):c.2682+9C>G	noncoding	Benign
19	7141716	G	A	G7141716A	INSR	NM_000208.4(INSR):c.2643C>T:p.Ile881=	coding	Benign
19	7141764	G	A	G7141764A	INSR	NM_000208.4(INSR):c.2595C>T:p.Asn865=	coding	Benign
19	7142813	T	C	T7142813C	INSR	NM_000208.4(INSR):c.2542+3A>G	noncoding	Benign
19	7142832	C	G	C7142832G	INSR	NM_000208.4(INSR):c.2526G>C:p.Ala842=	coding	Benign
19	7142910	C	T	C7142910T	INSR	NM_000208.4(INSR):c.2448G>A:p.Thr816=	coding	Benign
19	7142988	C	T	C7142988T	INSR	NM_000208.4(INSR):c.2370G>A:p.Thr790=	coding	Benign
19	7143072	C	A	C7143072A	INSR	NM_000208.4(INSR):c.2286G>T:p.Arg762Ser	coding	Pathogenic
19	7150480	G	A	G7150480A	INSR	NM_000208.4(INSR):c.2267+17C>T	noncoding	Benign
19	7152706	G	T	G7152706T	INSR	NM_000208.4(INSR):c.2231+20C>A	noncoding	Benign
19	7152764	C	T	C7152764T	INSR	NM_000208.4(INSR):c.2193G>A:p.Thr731=	coding	Benign/Likely_benign
19	7152862	G	A	G7152862A	INSR	NM_000208.4(INSR):c.2095C>T:p.Gln699Ter	coding	Pathogenic
19	7163054	G	A	G7163054A	INSR	NM_000208.4(INSR):c.2007C>T:p.Phe669=	coding	Benign
19	7163072	C	T	C7163072T	INSR	NM_000208.4(INSR):c.1989G>A:p.Ala663=	coding	Benign
19	7163129	T	G	T7163129G	INSR	NM_000208.4(INSR):c.1932A>C:p.Pro644=	coding	Benign
19	7163143	G	A	G7163143A	INSR	NM_000208.4(INSR):c.1918C>T:p.Leu640=	coding	Benign
19	7163203	T	C	T7163203C	INSR	NM_000208.4(INSR):c.1862-4A>G	noncoding	Benign
19	7163219	T	C	T7163219C	INSR	NM_000208.4(INSR):c.1862-20A>G	noncoding	Benign
19	7166127	G	A	G7166127A	INSR	NM_000208.4(INSR):c.1861+27C>T	noncoding	Benign
19	7166365	C	T	C7166365T	INSR	NM_000208.4(INSR):c.1650G>A:p.Ala550=	coding	Benign
19	7166377	G	A	G7166377A	INSR	NM_000208.4(INSR):c.1638C>T:p.Asp546=	coding	Benign
19	7167940	T	G	T7167940G	INSR	NM_000208.4(INSR):c.1610+28A>C	noncoding	Benign
19	7167945	G	A	G7167945A	INSR	NM_000208.4(INSR):c.1610+23C>T	noncoding	Benign
19	7167966	A	G	A7167966G	INSR	NM_000208.4(INSR):c.1610+2T>C	noncoding	Pathogenic
19	7167994	C	T	C7167994T	INSR	NM_000208.4(INSR):c.1584G>A:p.Leu528=	coding	Benign
19	7168075	T	C	T7168075C	INSR	NM_000208.4(INSR):c.1503A>G:p.Lys501=	coding	Benign
19	7170554	T	C	T7170554C	INSR	NM_000208.4(INSR):c.1466A>G:p.Asn489Ser	coding	Pathogenic
19	7170561	T	C	T7170561C	INSR	NM_000208.4(INSR):c.1459A>G:p.Lys487Glu	coding	Pathogenic
19	7170648	T	C	T7170648C	INSR	NM_000208.4(INSR):c.1372A>G:p.Asn458Asp	coding	Pathogenic
19	7170704	C	G	C7170704G	INSR	NM_000208.4(INSR):c.1316G>C:p.Trp439Ser	coding	Pathogenic
19	7172333	A	C	A7172333C	INSR	NM_000208.4(INSR):c.1225T>G:p.Phe409Val	coding	Pathogenic
19	7172379	C	A	C7172379A	INSR	NM_000208.4(INSR):c.1179G>T:p.Gly393=	coding	Benign
19	7172381	C	T	C7172381T	INSR	NM_000208.4(INSR):c.1177G>A:p.Gly393Arg	coding	Pathogenic
19	7172436	T	C	T7172436C	INSR	NM_000208.4(INSR):c.1124-2A>G	noncoding	Pathogenic
19	7174562	C	T	C7174562T	INSR	NM_000208.4(INSR):c.1123+21G>A	noncoding	Benign
19	7174570	C	A	C7174570A	INSR	NM_000208.4(INSR):c.1123+13G>T	noncoding	Benign/Likely_benign
19	7174608	A	G	A7174608G	INSR	NM_000208.4(INSR):c.1098T>C:p.Ser366=	coding	Benign
19	7174626	G	A	G7174626A	INSR	NM_000208.4(INSR):c.1080C>T:p.Cys360=	coding	Benign/Likely_benign
19	7184381	C	T	C7184381T	INSR	NM_000208.4(INSR):c.909G>A:p.Gln303=	coding	Benign
19	7184402	C	T	C7184402T	INSR	NM_000208.4(INSR):c.888G>A:p.Ser296=	coding	Benign
19	7184420	G	A	G7184420A	INSR	NM_000208.4(INSR):c.870C>T:p.His290=	coding	Benign
19	7184507	G	A	G7184507A	INSR	NM_000208.4(INSR):c.783C>T:p.Asp261=	coding	Benign
19	7184511	A	G	A7184511G	INSR	NM_000208.4(INSR):c.779T>C:p.Leu260Pro	coding	Pathogenic
19	7184583	T	C	T7184583C	INSR	NM_000208.4(INSR):c.707A>G:p.His236Arg	coding	Pathogenic
19	7184603	G	A	G7184603A	INSR	NM_000208.4(INSR):c.687C>T:p.Thr229=	coding	Benign/Likely_benign
19	7267365	G	A	G7267365A	INSR	NM_000208.4(INSR):c.632C>T:p.Thr211Ile	coding	Pathogenic
19	7267379	G	A	G7267379A	INSR	NM_000208.4(INSR):c.618C>T:p.Val206=	coding	Benign
19	7267508	G	T	G7267508T	INSR	NM_000208.4(INSR):c.489C>A:p.Ile163=	coding	Benign/Likely_benign
19	7267518	C	T	C7267518T	INSR	NM_000208.4(INSR):c.479G>A:p.Trp160Ter	coding	Pathogenic
19	7267555	T	A	T7267555A	INSR	NM_000208.4(INSR):c.442A>T:p.Lys148Ter	coding	Pathogenic
19	7267559	G	C	G7267559C	INSR	NM_000208.4(INSR):c.438C>G:p.Ile146Met	coding	Pathogenic
19	7267603	C	T	C7267603T	INSR	NM_000208.4(INSR):c.394G>A:p.Gly132Ser	coding	Pathogenic
19	7267659	C	G	C7267659G	INSR	NM_000208.4(INSR):c.338G>C:p.Arg113Pro	coding	Pathogenic
19	7267735	A	G	A7267735G	INSR	NM_000208.4(INSR):c.262T>C:p.Leu88=	coding	Benign
19	7267825	C	T	C7267825T	INSR	NM_000208.4(INSR):c.172G>A:p.Gly58Arg	coding	Pathogenic
19	7267830	A	G	A7267830G	INSR	NM_000208.4(INSR):c.167T>C:p.Ile56Thr	coding	Pathogenic
19	7267833	A	G	A7267833G	INSR	NM_000208.4(INSR):c.164T>C:p.Val55Ala	coding	Pathogenic
19	7267871	G	T	G7267871T	INSR	NM_000208.4(INSR):c.126C>A:p.Asn42Lys	coding	Pathogenic
19	7293887	G	C	G7293887C	INSR	NM_000208.4(INSR):c.5C>G:p.Ala2Gly	coding	Benign
19	7439985	T	A	T7439985A	ARHGEF18	NM_015318.4(ARHGEF18):c.-71-359T>A	coding	Benign
19	7440114	G	A	G7440114A	ARHGEF18	NM_015318.4(ARHGEF18):c.-71-230G>A	coding	Benign
19	7440225	G	A	G7440225A	ARHGEF18	NM_015318.4(ARHGEF18):c.-71-119G>A	coding	Benign
19	7440277	C	T	C7440277T	ARHGEF18	NM_015318.4(ARHGEF18):c.-71-67C>T	coding	Benign
19	7440446	C	A	C7440446A	ARHGEF18	NM_015318.4(ARHGEF18):c.32C>A:p.Pro11Gln	coding	Benign
19	7441769	T	C	T7441769C	ARHGEF18	NM_015318.4(ARHGEF18):c.181+4T>C	noncoding	Benign
19	7441922	C	T	C7441922T	ARHGEF18	NM_015318.4(ARHGEF18):c.192C>T:p.Thr64=	coding	Benign
19	7442050	A	T	A7442050T	ARHGEF18	NM_015318.4(ARHGEF18):c.320A>T:p.Tyr107Phe	coding	Benign
19	7444215	A	G	A7444215G	ARHGEF18	NM_015318.4(ARHGEF18):c.334A>G:p.Thr112Ala	coding	Pathogenic
19	7444337	G	A	G7444337A	ARHGEF18	NM_015318.4(ARHGEF18):c.456G>A:p.Leu152=	coding	Benign
19	7451193	G	A	G7451193A	ARHGEF18	NM_015318.4(ARHGEF18):c.744G>A:p.Glu248=	coding	Benign
19	7456408	G	A	G7456408A	ARHGEF18	NM_015318.4(ARHGEF18):c.1143+5G>A	noncoding	Pathogenic
19	7460001	G	A	G7460001A	ARHGEF18	NM_015318.4(ARHGEF18):c.1414+7G>A	noncoding	Benign
19	7462259	C	T	C7462259T	ARHGEF18	NM_015318.4(ARHGEF18):c.1522C>T:p.Arg508Ter	coding	Pathogenic
19	7462309	A	G	A7462309G	ARHGEF18	NM_015318.4(ARHGEF18):c.1572A>G:p.Leu524=	coding	Benign
19	7462330	C	T	C7462330T	ARHGEF18	NM_015318.4(ARHGEF18):c.1593C>T:p.Ser531=	coding	Benign
19	7463891	C	T	C7463891T	ARHGEF18	NM_015318.4(ARHGEF18):c.1671C>T:p.Ser557=	coding	Benign
19	7464605	G	A	G7464605A	ARHGEF18	NM_015318.4(ARHGEF18):c.1781G>A:p.Arg594Gln	coding	Benign
19	7466935	G	A	G7466935A	ARHGEF18	NM_015318.4(ARHGEF18):c.1884G>A:p.Thr628=	coding	Benign
19	7467400	G	T	G7467400T	ARHGEF18	NM_015318.4(ARHGEF18):c.2158G>T:p.Glu720Ter	coding	Pathogenic
19	7467525	C	G	C7467525G	ARHGEF18	NM_015318.4(ARHGEF18):c.2283C>G:p.Ala761=	coding	Benign
19	7467689	G	A	G7467689A	ARHGEF18	NM_015318.4(ARHGEF18):c.2442+5G>A	noncoding	Benign
19	7468937	C	T	C7468937T	ARHGEF18	NM_015318.4(ARHGEF18):c.2555C>T:p.Ala852Val	coding	Benign
19	7469971	G	A	G7469971A	ARHGEF18	NM_015318.4(ARHGEF18):c.2817G>A:p.Arg939=	coding	Benign
19	7470140	G	A	G7470140A	ARHGEF18	NM_015318.4(ARHGEF18):c.2890G>A:p.Ala964Thr	coding	Benign
19	7470240	C	T	C7470240T	ARHGEF18	NM_015318.4(ARHGEF18):c.2990C>T:p.Pro997Leu	coding	Benign
19	7519353	C	T	C7519353T	ZNF358	NM_018083.5(ZNF358):c.111C>T:p.Asp37=	coding	Benign
19	7519443	C	G	C7519443G	ZNF358	NM_018083.5(ZNF358):c.201C>G:p.Val67=	coding	Benign
19	7524951	A	G	A7524951G	MCOLN1	NM_020533.3(MCOLN1):c.32-10A>G	noncoding	Benign
19	7525121	C	A	C7525121A	MCOLN1	NM_020533.3(MCOLN1):c.192C>A:p.Cys64Ter	coding	Pathogenic
19	7525164	C	T	C7525164T	MCOLN1	NM_020533.3(MCOLN1):c.235C>T:p.Gln79Ter	coding	Pathogenic
19	7526505	C	T	C7526505T	MCOLN1	NM_020533.3(MCOLN1):c.304C>T:p.Arg102Ter	coding	Pathogenic
19	7526518	T	C	T7526518C	MCOLN1	NM_020533.3(MCOLN1):c.317T>C:p.Leu106Pro	coding	Pathogenic
19	7526607	G	A	G7526607A	MCOLN1	NM_020533.3(MCOLN1):c.405+1G>A	coding	Pathogenic
19	7526619	G	A	G7526619A	MCOLN1	NM_020533.3(MCOLN1):c.405+13G>A	noncoding	Benign
19	7526759	A	G	A7526759G	MCOLN1	NM_020533.3(MCOLN1):c.406-2A>G	noncoding	Pathogenic
19	7527629	G	A	G7527629A	MCOLN1	NM_020533.3(MCOLN1):c.680+1G>A	coding	Pathogenic
19	7527877	A	C	A7527877C	MCOLN1	NM_020533.3(MCOLN1):c.694A>C:p.Thr232Pro	coding	Pathogenic/Likely_pathogenic
19	7527954	C	A	C7527954A	MCOLN1	NM_020533.3(MCOLN1):c.771C>A:p.Ser257Arg	coding	Benign
19	7528059	G	A	G7528059A	MCOLN1	NM_020533.3(MCOLN1):c.777+99G>A	noncoding	Benign
19	7528283	A	G	A7528283G	MCOLN1	NM_020533.3(MCOLN1):c.877+26A>G	noncoding	Benign
19	7528683	C	T	C7528683T	MCOLN1	NM_020533.3(MCOLN1):c.964C>T:p.Arg322Ter	coding	Pathogenic/Likely_pathogenic
19	7528685	A	C	A7528685C	MCOLN1	NM_020533.3(MCOLN1):c.966A>C:p.Arg322=	coding	Benign
19	7528703	C	T	C7528703T	MCOLN1	NM_020533.3(MCOLN1):c.984C>T:p.Asn328=	coding	Benign
19	7528704	G	A	G7528704A	MCOLN1	NM_020533.3(MCOLN1):c.984+1G>A	coding	Pathogenic/Likely_pathogenic
19	7528920	G	T	G7528920T	MCOLN1	NM_020533.3(MCOLN1):c.1084G>T:p.Asp362Tyr	coding	Pathogenic/Likely_pathogenic
19	7529166	C	T	C7529166T	MCOLN1	NM_020533.3(MCOLN1):c.1200C>T:p.Gly400=	coding	Benign
19	7529173	C	T	C7529173T	MCOLN1	NM_020533.3(MCOLN1):c.1207C>T:p.Arg403Cys	coding	Pathogenic
19	7529693	T	C	T7529693C	MCOLN1	NM_020533.3(MCOLN1):c.1340T>C:p.Leu447Pro	coding	Pathogenic
19	7530314	G	A	G7530314A	MCOLN1	NM_020533.3(MCOLN1):c.1388G>A:p.Cys463Tyr	coding	Pathogenic
19	7530321	C	G	C7530321G	MCOLN1	NM_020533.3(MCOLN1):c.1395C>G:p.Phe465Leu	coding	Pathogenic
19	7533651	A	T	A7533651T	MCOLN1	NM_020533.3(MCOLN1):c.1704A>T:p.Gly568=	coding	Pathogenic
19	7534174	T	C	T7534174C	PNPLA6;MCOLN1	NM_006702.5(PNPLA6):c.-261T>C	noncoding	Benign
19	7534221	C	T	C7534221T	PNPLA6;MCOLN1	NM_006702.5(PNPLA6):c.-214C>T	noncoding	Benign/Likely_benign
19	7534849	A	C	A7534849C	PNPLA6;MCOLN1	NM_006702.5(PNPLA6):c.-96A>C	noncoding	Benign/Likely_benign
19	7535961	T	C	T7535961C	PNPLA6;MCOLN1	NM_001166114.2(PNPLA6):c.173T>C:p.Val58Ala	coding	Benign/Likely_benign
19	7535969	G	C	G7535969C	PNPLA6;MCOLN1	NM_001166114.2(PNPLA6):c.181G>C:p.Val61Leu	coding	Benign/Likely_benign
19	7535971	G	A	G7535971A	PNPLA6;MCOLN1	NM_001166114.2(PNPLA6):c.183G>A:p.Val61=	coding	Benign/Likely_benign
19	7536447	A	T	A7536447T	PNPLA6	NM_001166114.2(PNPLA6):c.316-2A>T	noncoding	Pathogenic
19	7540675	G	A	G7540675A	PNPLA6	NM_001166114.2(PNPLA6):c.760G>A:p.Val254Ile	coding	Pathogenic
19	7540680	C	T	C7540680T	PNPLA6	NM_001166114.2(PNPLA6):c.765C>T:p.Asn255=	coding	Benign
19	7541405	C	T	C7541405T	PNPLA6	NM_001166114.2(PNPLA6):c.976C>T:p.Leu326=	coding	Benign/Likely_benign
19	7542022	G	C	G7542022C	PNPLA6	NM_001166114.2(PNPLA6):c.1207G>C:p.Ala403Pro	coding	Benign
19	7542084	C	A	C7542084A	PNPLA6	NM_001166114.2(PNPLA6):c.1252+17C>A	noncoding	Benign
19	7542555	C	T	C7542555T	PNPLA6	NM_001166114.2(PNPLA6):c.1253-6C>T	noncoding	Benign
19	7542629	C	T	C7542629T	PNPLA6	NM_001166114.2(PNPLA6):c.1321C>T:p.Gln441Ter	coding	Pathogenic
19	7542678	T	C	T7542678C	PNPLA6	NM_001166114.2(PNPLA6):c.1362+8T>C	noncoding	Benign
19	7542796	C	T	C7542796T	PNPLA6	NM_001166114.2(PNPLA6):c.1398C>T:p.Gly466=	coding	Benign
19	7542883	C	T	C7542883T	PNPLA6	NM_001166114.2(PNPLA6):c.1485C>T:p.Ile495=	coding	Benign/Likely_benign
19	7542886	C	T	C7542886T	PNPLA6	NM_001166114.2(PNPLA6):c.1488C>T:p.Phe496=	coding	Benign
19	7550002	C	G	C7550002G	PNPLA6	NM_001166114.2(PNPLA6):c.1704C>G:p.Pro568=	coding	Benign/Likely_benign
19	7550003	G	T	G7550003T	PNPLA6	NM_001166114.2(PNPLA6):c.1705G>T:p.Gly569Trp	coding	Pathogenic
19	7550979	C	T	C7550979T	PNPLA6	NM_001166114.2(PNPLA6):c.2071-15C>T	noncoding	Benign
19	7551017	G	A	G7551017A	PNPLA6	NM_001166114.2(PNPLA6):c.2094G>A:p.Pro698=	coding	Benign
19	7551056	G	A	G7551056A	PNPLA6	NM_001166114.2(PNPLA6):c.2133G>A:p.Leu711=	coding	Benign/Likely_benign
19	7551361	G	C	G7551361C	PNPLA6	NM_006702.5(PNPLA6):c.2068-1G>C	noncoding	Pathogenic
19	7551699	C	T	C7551699T	PNPLA6	NM_001166114.2(PNPLA6):c.2260+262C>T	noncoding	Benign
19	7553999	C	T	C7553999T	PNPLA6	NM_001166114.2(PNPLA6):c.2385C>T:p.His795=	coding	Benign/Likely_benign
19	7554578	G	A	G7554578A	PNPLA6	NM_006702.5(PNPLA6):c.2375G>A:p.Gly792Glu	coding	Pathogenic
19	7554636	G	A	G7554636A	PNPLA6	NM_001166114.2(PNPLA6):c.2547G>A:p.Ser849=	coding	Benign/Likely_benign
19	7554874	A	C	A7554874C	PNPLA6	NM_001166114.2(PNPLA6):c.2635-19A>C	noncoding	Benign
19	7554964	C	T	C7554964T	PNPLA6	NM_001166114.2(PNPLA6):c.2706C>T:p.Gly902=	coding	Benign
19	7554970	C	T	C7554970T	PNPLA6	NM_001166114.2(PNPLA6):c.2712C>T:p.Gly904=	coding	Benign
19	7555041	G	A	G7555041A	PNPLA6	NM_006702.5(PNPLA6):c.2669G>A:p.Arg890His	coding	Pathogenic
19	7555230	A	G	A7555230G	PNPLA6	NM_001166114.2(PNPLA6):c.2818-19A>G	noncoding	Benign
19	7555245	C	T	C7555245T	PNPLA6	NM_001166114.2(PNPLA6):c.2818-4C>T	noncoding	Benign/Likely_benign
19	7555601	C	T	C7555601T	PNPLA6	NM_001166114.2(PNPLA6):c.2937-6C>T	noncoding	Benign/Likely_benign
19	7556028	A	G	A7556028G	PNPLA6	NM_001166114.2(PNPLA6):c.3093+265A>G	noncoding	Benign
19	7556448	C	T	C7556448T	PNPLA6	NM_001166114.2(PNPLA6):c.3094-5C>T	noncoding	Benign/Likely_benign
19	7556502	C	T	C7556502T	PNPLA6	NM_006702.5(PNPLA6):c.3029C>T:p.Thr1010Ile	coding	Pathogenic
19	7556507	A	G	A7556507G	PNPLA6	NM_006702.5(PNPLA6):c.3034A>G:p.Met1012Val	coding	Pathogenic
19	7556526	T	C	T7556526C	PNPLA6	NM_006702.5(PNPLA6):c.3053T>C:p.Phe1018Ser	coding	Pathogenic
19	7556589	T	G	T7556589G	PNPLA6	NM_001166114.2(PNPLA6):c.3210+20T>G	noncoding	Benign
19	7556678	C	T	C7556678T	PNPLA6	NM_001166114.2(PNPLA6):c.3234C>T:p.Asn1078=	coding	Benign
19	7556709	C	T	C7556709T	PNPLA6	NM_001166114.2(PNPLA6):c.3265C>T:p.Arg1089Ter	coding	Pathogenic
19	7556710	G	A	G7556710A	PNPLA6	NM_001166114.2(PNPLA6):c.3266G>A:p.Arg1089Gln	coding	Pathogenic
19	7558861	C	T	C7558861T	PNPLA6	NM_006702.5(PNPLA6):c.3295C>T:p.Arg1099Cys	coding	Pathogenic
19	7558955	G	A	G7558955A	PNPLA6	NM_006702.5(PNPLA6):c.3389G>A:p.Trp1130Ter	coding	Pathogenic
19	7559055	G	A	G7559055A	PNPLA6	NM_001166114.2(PNPLA6):c.3603G>A:p.Gln1201=	coding	Benign/Likely_benign
19	7559193	G	A	G7559193A	PNPLA6	NM_001166114.2(PNPLA6):c.3699+42G>A	noncoding	Benign
19	7559449	C	T	C7559449T	PNPLA6	NM_001166114.2(PNPLA6):c.3699+298C>T	noncoding	Benign
19	7560480	G	A	G7560480A	PNPLA6	NM_001166114.2(PNPLA6):c.3700-168G>A	noncoding	Benign
19	7561297	C	T	C7561297T	PNPLA6	NM_001166114.2(PNPLA6):c.4003C>T:p.Pro1335Ser	coding	Pathogenic
19	7561524	C	T	C7561524T	PNPLA6	NM_001166114.2(PNPLA6):c.4060C>T:p.Leu1354=	coding	Benign/Likely_benign
19	7561542	G	A	G7561542A	PNPLA6	NM_001166114.2(PNPLA6):c.4078G>A:p.Gly1360Ser	coding	Benign/Likely_benign
19	7608179	G	A	G7608179A	CAMSAP3	NM_020902.2(CAMSAP3):c.675G>A:p.Thr225=	coding	Benign
19	7608221	C	T	C7608221T	CAMSAP3	NM_020902.2(CAMSAP3):c.717C>T:p.Ala239=	coding	Benign
19	7610597	C	T	C7610597T	CAMSAP3	NM_020902.2(CAMSAP3):c.882C>T:p.Tyr294=	coding	Benign
19	7610801	C	T	C7610801T	CAMSAP3	NM_020902.2(CAMSAP3):c.994+8C>T	noncoding	Benign
19	7611536	G	A	G7611536A	CAMSAP3	NM_020902.2(CAMSAP3):c.1143G>A:p.Pro381=	coding	Benign
19	7615304	G	A	G7615304A	CAMSAP3	NM_020902.2(CAMSAP3):c.2792G>A:p.Arg931Gln	coding	Benign
19	7629507	G	A	G7629507A	PET100	NM_020196.3(XAB2):c.21C>T:p.Leu7=	coding	Benign
19	7629699	G	T	G7629699T	PET100	NC_000019.10:g.7629699G>T	noncoding	Benign
19	7629776	T	C	T7629776C	PET100	NC_000019.10:g.7629776T>C	noncoding	Benign
19	7629836	G	C	G7629836C	PET100	NM_001171155.2(PET100):c.3G>C:p.Met1Ile	coding	Pathogenic
19	7630380	G	C	G7630380C	PET100	NM_001171155.2(PET100):c.28-193G>C	noncoding	Benign
19	7630627	G	A	G7630627A	PET100	NM_001171155.2(PET100):c.82G>A:p.Glu28Lys	coding	Benign/Likely_benign
19	7631091	C	G	C7631091G	PET100	NM_001171155.2(PET100):c.138+245C>G	noncoding	Benign
19	7631252	G	A	G7631252A	PET100	NM_001171155.2(PET100):c.139-221G>A	coding	Benign
19	7631476	C	T	C7631476T	PET100	NM_001171155.2(PET100):c.142C>T:p.Gln48Ter	coding	Pathogenic
19	7631533	C	T	C7631533T	PET100	NM_001171155.2(PET100):c.199C>T:p.Arg67Cys	coding	Benign
19	7632826	C	A	C7632826A	PCP2	NM_174895.3(PCP2):c.56G>T:p.Gly19Val	coding	Benign
19	7633434	C	T	C7633434T	STXBP2	NM_174895.3(PCP2):c.24G>A:p.Thr8=	coding	Benign
19	7638696	A	C	A7638696C	STXBP2	NM_006949.4(STXBP2):c.38-30A>C	noncoding	Benign
19	7638719	C	T	C7638719T	STXBP2	NM_006949.4(STXBP2):c.38-7C>T	noncoding	Benign
19	7638737	G	A	G7638737A	STXBP2	NM_006949.4(STXBP2):c.49G>A:p.Gly17Arg	coding	Benign/Likely_benign
19	7639096	C	T	C7639096T	STXBP2	NM_006949.4(STXBP2):c.165C>T:p.Ile55=	coding	Benign/Likely_benign
19	7639102	T	G	T7639102G	STXBP2	NM_006949.4(STXBP2):c.169+2T>G	noncoding	Pathogenic
19	7639112	C	T	C7639112T	STXBP2	NM_006949.4(STXBP2):c.169+12C>T	noncoding	Benign
19	7640939	G	A	G7640939A	STXBP2	NM_006949.4(STXBP2):c.365G>A:p.Arg122His	coding	Benign
19	7640994	C	T	C7640994T	STXBP2	NM_006949.4(STXBP2):c.420C>T:p.Tyr140=	coding	Benign/Likely_benign
19	7641770	C	T	C7641770T	STXBP2	NM_006949.4(STXBP2):c.495C>T:p.Arg165=	coding	Benign/Likely_benign
19	7641772	C	T	C7641772T	STXBP2	NM_006949.4(STXBP2):c.497C>T:p.Thr166Met	coding	Benign/Likely_benign
19	7642064	C	T	C7642064T	STXBP2	NM_006949.4(STXBP2):c.609C>T:p.His203=	coding	Benign/Likely_benign
19	7642068	G	A	G7642068A	STXBP2	NM_006949.4(STXBP2):c.613G>A:p.Val205Ile	coding	Benign/Likely_benign
19	7642081	T	C	T7642081C	STXBP2	NM_006949.4(STXBP2):c.626T>C:p.Leu209Pro	coding	Pathogenic
19	7642256	C	T	C7642256T	STXBP2	NM_006949.4(STXBP2):c.717C>T:p.Pro239=	coding	Benign
19	7642425	C	T	C7642425T	STXBP2	NM_006949.4(STXBP2):c.795-4C>T	noncoding	Benign/Likely_benign
19	7642450	C	T	C7642450T	STXBP2	NM_006949.4(STXBP2):c.816C>T:p.Ser272=	coding	Benign
19	7642456	G	A	G7642456A	STXBP2	NM_006949.4(STXBP2):c.822G>A:p.Ala274=	coding	Benign
19	7642480	C	T	C7642480T	STXBP2	NM_006949.4(STXBP2):c.846C>T:p.Asp282=	coding	Benign
19	7643083	G	A	G7643083A	STXBP2	NM_006949.4(STXBP2):c.1026+35G>A	noncoding	Benign
19	7643172	C	T	C7643172T	STXBP2	NM_006949.4(STXBP2):c.1034C>T:p.Thr345Met	coding	Benign/Likely_benign
19	7644673	C	T	C7644673T	STXBP2	NM_006949.4(STXBP2):c.1167C>T:p.Ile389=	coding	Benign/Likely_benign
19	7644697	G	A	G7644697A	STXBP2	NM_006949.4(STXBP2):c.1191G>A:p.Ala397=	coding	Benign/Likely_benign
19	7644720	G	A	G7644720A	STXBP2	NM_006949.4(STXBP2):c.1214G>A:p.Arg405Gln	coding	Pathogenic
19	7645154	T	C	T7645154C	STXBP2	NM_006949.4(STXBP2):c.1247-43T>C	noncoding	Benign
19	7645187	C	T	C7645187T	STXBP2	NM_006949.4(STXBP2):c.1247-10C>T	noncoding	Benign
19	7645196	G	C	G7645196C	STXBP2	NM_006949.4(STXBP2):c.1247-1G>C	noncoding	Pathogenic
19	7645248	C	T	C7645248T	STXBP2	NM_006949.4(STXBP2):c.1298C>T:p.Ala433Val	coding	Benign/Likely_benign
19	7645324	A	G	A7645324G	STXBP2	NM_006949.4(STXBP2):c.1356+18A>G	noncoding	Benign
19	7646322	C	T	C7646322T	STXBP2	NM_006949.4(STXBP2):c.1430C>T:p.Pro477Leu	coding	Pathogenic
19	7646335	T	C	T7646335C	STXBP2	NM_006949.4(STXBP2):c.1443T>C:p.Asp481=	coding	Benign
19	7647257	C	T	C7647257T	STXBP2	NM_006949.4(STXBP2):c.1538+10C>T	noncoding	Benign/Likely_benign
19	7647275	C	T	C7647275T	STXBP2	NM_006949.4(STXBP2):c.1538+28C>T	noncoding	Benign
19	7647307	G	A	G7647307A	STXBP2	NM_006949.4(STXBP2):c.1539-47G>A	noncoding	Benign
19	7647391	A	G	A7647391G	STXBP2	NM_006949.4(STXBP2):c.1576A>G:p.Ile526Val	coding	Benign
19	7647405	G	A	G7647405A	STXBP2	NM_006949.4(STXBP2):c.1590G>A:p.Ala530=	coding	Benign
19	7647436	G	A	G7647436A	STXBP2	NM_006949.4(STXBP2):c.1621G>A:p.Gly541Ser	coding	Pathogenic/Likely_pathogenic
19	7647478	A	G	A7647478G	STXBP2	NM_006949.4(STXBP2):c.1663A>G:p.Arg555Gly	coding	Benign
19	7647531	A	G	A7647531G	STXBP2	NM_006949.4(STXBP2):c.1696+20A>G	noncoding	Benign
19	7647539	G	C	G7647539C	STXBP2	NM_006949.4(STXBP2):c.1696+28G>C	noncoding	Benign
19	7647557	C	T	C7647557T	STXBP2	NM_006949.4(STXBP2):c.1696+46C>T	noncoding	Benign
19	7647699	T	G	T7647699G	STXBP2	NM_006949.4(STXBP2):c.1697-26T>G	noncoding	Benign
19	7647822	G	A	G7647822A	STXBP2	NM_006949.4(STXBP2):c.*12G>A	noncoding	Benign/Likely_benign
19	7678983	C	T	C7678983T	MCEMP1	NM_174918.2(MCEMP1):c.547C>T:p.Gln183Ter	coding	Benign
19	7743069	G	A	G7743069A	CD209	NM_021155.4(CD209):c.1185C>T:p.Ala395=	coding	Benign
19	7743183	C	T	C7743183T	CD209	NM_021155.4(CD209):c.1071G>A:p.Ala357=	coding	Benign
19	7744127	G	A	G7744127A	CD209	NM_021155.4(CD209):c.993C>T:p.Asp331=	coding	Benign
19	7899819	G	A	G7899819A	LRRC8E	NM_025061.6(LRRC8E):c.1297G>A:p.Val433Ile	coding	Benign
19	7899974	C	A	C7899974A	LRRC8E	NM_025061.6(LRRC8E):c.1452C>A:p.Asp484Glu	coding	Benign
19	7900374	C	T	C7900374T	LRRC8E	NM_025061.6(LRRC8E):c.1852C>T:p.Arg618Cys	coding	Benign
19	7910319	C	T	C7910319T	MAP2K7	NM_145185.4(MAP2K7):c.393C>T:p.Cys131=	coding	Benign
19	7910734	C	T	C7910734T	MAP2K7	NM_145185.4(MAP2K7):c.606C>T:p.Cys202=	coding	Benign
19	7910773	C	A	C7910773A	MAP2K7	NM_145185.4(MAP2K7):c.645C>A:p.Pro215=	coding	Benign
19	7910773	C	T	C7910773T	MAP2K7	NM_145185.4(MAP2K7):c.645C>T:p.Pro215=	coding	Benign
19	7911099	C	T	C7911099T	MAP2K7	NM_145185.4(MAP2K7):c.795C>T:p.Ser265=	coding	Benign
19	7911135	C	T	C7911135T	MAP2K7	NM_145185.4(MAP2K7):c.831C>T:p.Ser277=	coding	Benign
19	7911169	G	C	G7911169C	MAP2K7	NM_145185.4(MAP2K7):c.855+10G>C	noncoding	Benign
19	7911587	C	T	C7911587T	MAP2K7	NM_145185.4(MAP2K7):c.1079+9C>T	noncoding	Benign
19	7912383	G	T	G7912383T	MAP2K7	NM_145185.4(MAP2K7):c.1212G>T:p.Pro404=	coding	Benign
19	7927167	A	C	A7927167C	TIMM44	NM_006351.4(TIMM44):c.*20T>G	noncoding	Benign
19	7927241	G	A	G7927241A	TIMM44	NM_006351.4(TIMM44):c.1305C>T:p.Tyr435=	coding	Benign
19	7928074	T	C	T7928074C	TIMM44	NM_006351.4(TIMM44):c.1128+3A>G	noncoding	Benign
19	7928091	T	C	T7928091C	TIMM44	NM_006351.4(TIMM44):c.1114A>G:p.Ile372Val	coding	Benign
19	7931186	G	A	G7931186A	TIMM44	NM_006351.4(TIMM44):c.990C>T:p.Ala330=	coding	Benign
19	7932690	C	T	C7932690T	TIMM44	NM_006351.4(TIMM44):c.924G>A:p.Pro308=	coding	Benign
19	7932759	G	A	G7932759A	TIMM44	NM_006351.4(TIMM44):c.863-8C>T	noncoding	Benign
19	7932898	G	A	G7932898A	TIMM44	NM_006351.4(TIMM44):c.804C>T:p.Ser268=	coding	Benign
19	7933501	G	C	G7933501C	TIMM44	NM_006351.4(TIMM44):c.753C>G:p.Asn251Lys	coding	Benign
19	7933848	A	T	A7933848T	TIMM44	NM_006351.4(TIMM44):c.683+16T>A	noncoding	Benign
19	7933974	G	A	G7933974A	TIMM44	NM_006351.4(TIMM44):c.573C>T:p.Asp191=	coding	Benign
19	7934012	G	A	G7934012A	TIMM44	NM_006351.4(TIMM44):c.544-9C>T	noncoding	Benign
19	7934209	G	A	G7934209A	TIMM44	NM_006351.4(TIMM44):c.423C>T:p.Leu141=	coding	Benign
19	7934236	G	A	G7934236A	TIMM44	NM_006351.4(TIMM44):c.396C>T:p.Ser132=	coding	Benign
19	7935095	C	T	C7935095T	TIMM44	NM_006351.4(TIMM44):c.363G>A:p.Lys121=	coding	Benign
19	7935116	C	T	C7935116T	TIMM44	NM_006351.4(TIMM44):c.342G>A:p.Thr114=	coding	Benign
19	7935158	C	T	C7935158T	TIMM44	NM_006351.4(TIMM44):c.313-13G>A	noncoding	Benign
19	7935160	C	T	C7935160T	TIMM44	NM_006351.4(TIMM44):c.313-15G>A	noncoding	Benign
19	7938136	T	C	T7938136C	TIMM44	NM_006351.4(TIMM44):c.203A>G:p.Lys68Arg	coding	Benign
19	7938155	C	T	C7938155T	TIMM44	NM_006351.4(TIMM44):c.184G>A:p.Gly62Ser	coding	Benign
19	7941105	T	C	T7941105C	TIMM44	NM_006351.4(TIMM44):c.138A>G:p.Pro46=	coding	Benign
19	7941141	C	T	C7941141T	TIMM44	NM_006351.4(TIMM44):c.102G>A:p.Ser34=	coding	Benign
19	7941174	T	C	T7941174C	TIMM44	NM_006351.4(TIMM44):c.69A>G:p.Gln23=	coding	Benign
19	7941205	G	C	G7941205C	TIMM44	NM_006351.4(TIMM44):c.46-8C>G	noncoding	Benign
19	7943599	C	T	C7943599T	TIMM44	NM_006351.4(TIMM44):c.45+8G>A	noncoding	Benign
19	8056208	C	T	C8056208T	CCL25	NM_005624.3(CCL25):c.130C>T:p.Arg44Trp	coding	Benign
19	8066119	C	T	C8066119T	FBN3	NM_032447.5(FBN3):c.8230G>A:p.Gly2744Arg	coding	Benign
19	8072099	A	G	A8072099G	FBN3	NM_032447.5(FBN3):c.8037T>C:p.Asn2679=	coding	Benign
19	8072185	C	T	C8072185T	FBN3	NM_032447.5(FBN3):c.7951G>A:p.Gly2651Ser	coding	Benign
19	8073116	C	T	C8073116T	FBN3	NM_032447.5(FBN3):c.7884G>A:p.Thr2628=	coding	Benign
19	8073154	C	T	C8073154T	FBN3	NM_032447.5(FBN3):c.7846G>A:p.Gly2616Arg	coding	Benign
19	8073158	G	A	G8073158A	FBN3	NM_032447.5(FBN3):c.7842C>T:p.Cys2614=	coding	Benign
19	8081349	G	T	G8081349T	FBN3	NM_032447.5(FBN3):c.7336+9C>A	noncoding	Benign
19	8085393	G	A	G8085393A	FBN3	NM_032447.5(FBN3):c.7057C>T:p.His2353Tyr	coding	Benign
19	8085576	A	G	A8085576G	FBN3	NM_032447.5(FBN3):c.6881-7T>C	noncoding	Benign
19	8086211	G	A	G8086211A	FBN3	NM_032447.5(FBN3):c.6869C>T:p.Thr2290Ile	coding	Benign
19	8086248	C	G	C8086248G	FBN3	NM_032447.5(FBN3):c.6832G>C:p.Asp2278His	coding	Benign
19	8087174	G	A	G8087174A	FBN3	NM_032447.5(FBN3):c.6657C>T:p.His2219=	coding	Benign
19	8088112	G	A	G8088112A	FBN3	NM_032447.5(FBN3):c.6444C>T:p.Phe2148=	coding	Benign
19	8094535	G	T	G8094535T	FBN3	NM_032447.5(FBN3):c.5816C>A:p.Thr1939Asn	coding	Benign
19	8096072	C	T	C8096072T	FBN3	NM_032447.5(FBN3):c.5548G>A:p.Glu1850Lys	coding	Benign
19	8096900	C	T	C8096900T	FBN3	NM_032447.5(FBN3):c.5394G>A:p.Ser1798=	coding	Benign
19	8096942	G	A	G8096942A	FBN3	NM_032447.5(FBN3):c.5352C>T:p.Pro1784=	coding	Benign
19	8097353	G	A	G8097353A	FBN3	NM_032447.5(FBN3):c.5223C>T:p.Ile1741=	coding	Benign
19	8100914	C	T	C8100914T	FBN3	NM_032447.5(FBN3):c.5148G>A:p.Thr1716=	coding	Benign
19	8103629	G	A	G8103629A	FBN3	NM_032447.5(FBN3):c.4872C>T:p.Thr1624=	coding	Benign
19	8109357	C	T	C8109357T	FBN3	NM_032447.5(FBN3):c.4488G>A:p.Thr1496=	coding	Benign
19	8110886	T	A	T8110886A	FBN3	NM_032447.5(FBN3):c.4292A>T:p.Asn1431Ile	coding	Benign
19	8111676	G	A	G8111676A	FBN3	NM_032447.5(FBN3):c.4056C>T:p.Gly1352=	coding	Benign
19	8111712	A	G	A8111712G	FBN3	NM_032447.5(FBN3):c.4020T>C:p.Asn1340=	coding	Benign
19	8116760	T	C	T8116760C	FBN3	NM_032447.5(FBN3):c.3626A>G:p.Gln1209Arg	coding	Benign
19	8117274	C	T	C8117274T	FBN3	NM_032447.5(FBN3):c.3481G>A:p.Val1161Ile	coding	Benign
19	8117461	C	T	C8117461T	FBN3	NM_032447.5(FBN3):c.3463+3G>A	noncoding	Benign
19	8117501	G	A	G8117501A	FBN3	NM_032447.5(FBN3):c.3426C>T:p.Ala1142=	coding	Benign
19	8118924	G	A	G8118924A	FBN3	NM_032447.5(FBN3):c.3310C>T:p.Leu1104=	coding	Benign
19	8118949	C	T	C8118949T	FBN3	NM_032447.5(FBN3):c.3285G>A:p.Lys1095=	coding	Benign
19	8121307	C	T	C8121307T	FBN3	NM_032447.5(FBN3):c.3162G>A:p.Glu1054=	coding	Benign
19	8123552	C	T	C8123552T	FBN3	NM_032447.5(FBN3):c.2994G>A:p.Thr998=	coding	Benign
19	8123553	G	A	G8123553A	FBN3	NM_032447.5(FBN3):c.2993C>T:p.Thr998Met	coding	Benign
19	8123779	C	T	C8123779T	FBN3	NM_032447.5(FBN3):c.2956+5G>A	noncoding	Benign
19	8123893	G	A	G8123893A	FBN3	NM_032447.5(FBN3):c.2847C>T:p.Val949=	coding	Benign
19	8126706	C	T	C8126706T	FBN3	NM_032447.5(FBN3):c.2416+7G>A	noncoding	Benign
19	8131711	G	A	G8131711A	FBN3	NM_032447.5(FBN3):c.1833C>T:p.Cys611=	coding	Benign
19	8133075	G	A	G8133075A	FBN3	NM_032447.5(FBN3):c.1623C>T:p.Cys541=	coding	Benign
19	8135976	C	T	C8135976T	FBN3	NM_032447.5(FBN3):c.1576G>A:p.Gly526Ser	coding	Benign
19	8136092	G	A	G8136092A	FBN3	NM_032447.5(FBN3):c.1466-6C>T	noncoding	Benign
19	8136094	G	A	G8136094A	FBN3	NM_032447.5(FBN3):c.1466-8C>T	noncoding	Benign
19	8138221	G	C	G8138221C	FBN3	NM_032447.5(FBN3):c.1121C>G:p.Pro374Arg	coding	Benign/Likely_benign
19	8138303	C	T	C8138303T	FBN3	NM_032447.5(FBN3):c.1039G>A:p.Ala347Thr	coding	Benign
19	8138508	G	C	G8138508C	FBN3	NM_032447.5(FBN3):c.922C>G:p.Leu308Val	coding	Benign
19	8141963	T	C	T8141963C	FBN3	NM_032447.5(FBN3):c.716A>G:p.Asn239Ser	coding	Benign
19	8142100	G	C	G8142100C	FBN3	NM_032447.5(FBN3):c.579C>G:p.Pro193=	coding	Benign
19	8144923	G	A	G8144923A	FBN3	NM_032447.5(FBN3):c.495C>T:p.Asn165=	coding	Benign
19	8146155	C	T	C8146155T	FBN3	NM_032447.5(FBN3):c.321G>A:p.Thr107=	coding	Benign
19	8147348	C	T	C8147348T	FBN3	NM_032447.5(FBN3):c.133G>A:p.Val45Met	coding	Benign
19	8256678	C	T	C8256678T	CERS4	NM_024552.3(CERS4):c.580C>T:p.Leu194=	coding	Benign
19	8302472	C	T	C8302472T	CD320	NM_016579.4(CD320):c.840G>A:p.Ser280=	coding	Benign/Likely_benign
19	8302475	G	C	G8302475C	CD320	NM_016579.4(CD320):c.837C>G:p.Thr279=	coding	Benign
19	8302540	G	A	G8302540A	CD320	NM_016579.4(CD320):c.772C>T:p.Arg258Cys	coding	Benign
19	8302543	C	T	C8302543T	CD320	NM_016579.4(CD320):c.769G>A:p.Glu257Lys	coding	Benign/Likely_benign
19	8302620	T	A	T8302620A	CD320	NM_016579.4(CD320):c.707-15A>T	noncoding	Benign
19	8302825	C	T	C8302825T	CD320	NM_016579.4(CD320):c.658G>A:p.Gly220Arg	coding	Benign
19	8302961	C	A	C8302961A	CD320	NM_016579.4(CD320):c.522G>T:p.Pro174=	coding	Benign
19	8303874	G	A	G8303874A	CD320	NM_016579.4(CD320):c.483C>T:p.Ser161=	coding	Benign
19	8303910	C	A	C8303910A	CD320	NM_016579.4(CD320):c.447G>T:p.Thr149=	coding	Benign
19	8303919	A	G	A8303919G	CD320	NM_016579.4(CD320):c.438T>C:p.Ile146=	coding	Benign
19	8305012	A	C	A8305012C	CD320	NM_016579.4(CD320):c.268+19T>G	noncoding	Benign
19	8308139	C	G	C8308139G	CD320	NM_016579.4(CD320):c.142+10G>C	noncoding	Benign
19	8308268	T	C	T8308268C	CD320	NM_016579.4(CD320):c.23A>G:p.Gln8Arg	coding	Benign
19	8308280	C	T	C8308280T	CD320	NM_016579.4(CD320):c.11G>A:p.Gly4Asp	coding	Benign
19	8308292	C	T	C8308292T	CD320	NM_016579.4(CD320):c.-2G>A	noncoding	Benign
19	8321531	A	G	A8321531G	RPS28	NM_001031.5(RPS28):c.1A>G:p.Met1Val	coding	Pathogenic
19	8369213	C	T	C8369213T	ANGPTL4	NM_139314.3(ANGPTL4):c.548-6C>T	noncoding	Benign
19	8369216	C	T	C8369216T	ANGPTL4	NM_139314.3(ANGPTL4):c.548-3C>T	noncoding	Benign
19	8371316	G	A	G8371316A	ANGPTL4	NM_139314.3(ANGPTL4):c.833G>A:p.Arg278Gln	coding	Benign
19	8373745	C	T	C8373745T	ANGPTL4	NM_139314.3(ANGPTL4):c.1080C>T:p.Asn360=	coding	Benign
19	8390462	G	T	G8390462T	RAB11B	NM_004218.4(RAB11B):c.40+6G>T	coding	Benign
19	8400024	G	A	G8400024A	RAB11B	NM_004218.4(RAB11B):c.202G>A:p.Ala68Thr	coding	Pathogenic/Likely_pathogenic
19	8402107	C	T	C8402107T	RAB11B	NM_004218.4(RAB11B):c.258C>T:p.Gly86=	coding	Benign
19	8402206	C	A	C8402206A	RAB11B	NM_004218.4(RAB11B):c.357C>A:p.Ile119=	coding	Benign
19	8468767	C	G	C8468767G	HNRNPM	NM_005968.5(HNRNPM):c.835-7C>G	noncoding	Benign
19	8474177	G	A	G8474177A	HNRNPM	NM_005968.5(HNRNPM):c.1053G>A:p.Gly351=	coding	Benign
19	8486087	C	T	C8486087T	HNRNPM	NM_005968.5(HNRNPM):c.1659C>T:p.Thr553=	coding	Benign
19	8486231	C	T	C8486231T	HNRNPM	NM_005968.5(HNRNPM):c.1803C>T:p.Gly601=	coding	Benign
19	8498950	C	T	C8498950T	PRAM1	NM_032152.5(PRAM1):c.858G>A:p.Pro286=	coding	Benign
19	8499028	G	T	G8499028T	PRAM1	NM_032152.5(PRAM1):c.780C>A:p.Ser260Arg	coding	Benign
19	8499582	C	A	C8499582A	PRAM1	NM_032152.5(PRAM1):c.226G>T:p.Val76Phe	coding	Benign
19	8499585	C	G	C8499585G	PRAM1	NM_032152.5(PRAM1):c.223G>C:p.Glu75Gln	coding	Benign
19	8499590	G	T	G8499590T	PRAM1	NM_032152.5(PRAM1):c.218C>A:p.Pro73Gln	coding	Benign
19	8499727	C	T	C8499727T	PRAM1	NM_032152.5(PRAM1):c.81G>A:p.Pro27=	coding	Benign
19	8522465	G	T	G8522465T	MYO1F	NM_012335.4(MYO1F):c.3132C>A:p.Pro1044=	coding	Benign
19	8522669	T	C	T8522669C	MYO1F	NM_012335.4(MYO1F):c.3015A>G:p.Thr1005=	coding	Benign
19	8526894	G	T	G8526894T	MYO1F	NM_012335.4(MYO1F):c.2516C>A:p.Ala839Asp	coding	Benign
19	8526895	C	T	C8526895T	MYO1F	NM_012335.4(MYO1F):c.2515G>A:p.Ala839Thr	coding	Benign
19	8530370	G	A	G8530370A	MYO1F	NM_012335.4(MYO1F):c.2159-5C>T	noncoding	Benign
19	8537038	C	T	C8537038T	MYO1F	NM_012335.4(MYO1F):c.1710G>A:p.Leu570=	coding	Benign
19	8540101	G	A	G8540101A	MYO1F	NM_012335.4(MYO1F):c.1611-73C>T	noncoding	Benign
19	8541950	G	A	G8541950A	MYO1F	NM_012335.4(MYO1F):c.1566C>T:p.Asp522=	coding	Benign/Likely_benign
19	8544291	G	C	G8544291C	MYO1F	NM_012335.4(MYO1F):c.1524+6C>G	noncoding	Benign
19	8544317	T	C	T8544317C	MYO1F	NM_012335.4(MYO1F):c.1504A>G:p.Ile502Val	coding	Benign
19	8544375	C	T	C8544375T	MYO1F	NM_012335.4(MYO1F):c.1446G>A:p.Lys482=	coding	Benign
19	8548030	G	A	G8548030A	MYO1F	NM_012335.4(MYO1F):c.1269+6C>T	noncoding	Benign
19	8548249	G	A	G8548249A	MYO1F	NM_012335.4(MYO1F):c.1170C>T:p.Phe390=	coding	Benign/Likely_benign
19	8550174	C	T	C8550174T	MYO1F	NM_012335.4(MYO1F):c.1087G>A:p.Asp363Asn	coding	Benign
19	8550268	G	A	G8550268A	MYO1F	NM_012335.4(MYO1F):c.993C>T:p.Gly331=	coding	Benign
19	8552111	C	T	C8552111T	MYO1F	NM_012335.4(MYO1F):c.558G>A:p.Lys186=	coding	Benign/Likely_benign
19	8552136	C	T	C8552136T	MYO1F	NM_012335.4(MYO1F):c.533G>A:p.Arg178Gln	coding	Benign
19	8554577	A	G	A8554577G	MYO1F	NM_012335.4(MYO1F):c.232-6T>C	noncoding	Benign
19	8555752	C	T	C8555752T	MYO1F	NM_012335.4(MYO1F):c.48G>A:p.Gln16=	coding	Benign
19	8580444	C	G	C8580444G	ADAMTS10	NM_030957.4(ADAMTS10):c.*449G>C	noncoding	Benign
19	8580465	T	C	T8580465C	ADAMTS10	NM_030957.4(ADAMTS10):c.*428A>G	noncoding	Benign
19	8580634	C	T	C8580634T	ADAMTS10	NM_030957.4(ADAMTS10):c.*259G>A	noncoding	Benign
19	8580873	C	T	C8580873T	ADAMTS10	NM_030957.4(ADAMTS10):c.*20G>A	noncoding	Benign
19	8580902	A	C	A8580902C	ADAMTS10	NM_030957.4(ADAMTS10):c.3303T>G:p.His1101Gln	coding	Benign
19	8584904	C	T	C8584904T	ADAMTS10	NM_030957.4(ADAMTS10):c.3193G>A:p.Gly1065Ser	coding	Benign
19	8584995	C	T	C8584995T	ADAMTS10	NM_030957.4(ADAMTS10):c.3102G>A:p.Thr1034=	coding	Benign/Likely_benign
19	8585445	G	T	G8585445T	ADAMTS10	NM_030957.4(ADAMTS10):c.2865+11C>A	noncoding	Benign
19	8586198	C	A	C8586198A	ADAMTS10	NM_030957.4(ADAMTS10):c.2584G>T:p.Ala862Ser	coding	Benign
19	8586451	A	C	A8586451C	ADAMTS10	NM_030957.4(ADAMTS10):c.2423T>G:p.Leu808Arg	coding	Benign/Likely_benign
19	8586678	A	G	A8586678G	ADAMTS10	NM_030957.4(ADAMTS10):c.2283T>C:p.Pro761=	coding	Benign
19	8589243	G	C	G8589243C	ADAMTS10	NM_030957.4(ADAMTS10):c.2157C>G:p.Ala719=	coding	Benign/Likely_benign
19	8589246	C	T	C8589246T	ADAMTS10	NM_030957.4(ADAMTS10):c.2154G>A:p.Gly718=	coding	Benign/Likely_benign
19	8589302	C	A	C8589302A	ADAMTS10	NM_030957.4(ADAMTS10):c.2098G>T:p.Gly700Cys	coding	Pathogenic
19	8589470	G	A	G8589470A	ADAMTS10	NM_030957.4(ADAMTS10):c.2016C>T:p.Cys672=	coding	Benign/Likely_benign
19	8589596	C	T	C8589596T	ADAMTS10	NM_030957.4(ADAMTS10):c.1901-11G>A	noncoding	Benign
19	8589878	C	G	C8589878G	ADAMTS10	NM_030957.4(ADAMTS10):c.1900+11G>C	noncoding	Benign
19	8589902	T	C	T8589902C	ADAMTS10	NM_030957.4(ADAMTS10):c.1887A>G:p.Lys629=	coding	Benign
19	8589986	A	G	A8589986G	ADAMTS10	NM_030957.4(ADAMTS10):c.1803T>C:p.Cys601=	coding	Benign
19	8589997	G	A	G8589997A	ADAMTS10	NM_030957.4(ADAMTS10):c.1798-6C>T	noncoding	Benign/Likely_benign
19	8592110	G	C	G8592110C	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-7C>G	coding	Benign
19	8592797	C	T	C8592797T	ADAMTS10	NM_030957.4(ADAMTS10):c.1553G>A:p.Gly518Asp	coding	Pathogenic
19	8595891	C	A	C8595891A	ADAMTS10	NM_030957.4(ADAMTS10):c.1350G>T:p.Gly450=	coding	Benign
19	8596306	C	T	C8596306T	ADAMTS10	NM_030957.4(ADAMTS10):c.1190+1G>A	noncoding	Pathogenic
19	8597075	G	A	G8597075A	ADAMTS10	NM_030957.4(ADAMTS10):c.952C>T:p.Gln318Ter	coding	Pathogenic
19	8600927	C	T	C8600927T	ADAMTS10	NM_030957.4(ADAMTS10):c.810+1G>A	noncoding	Pathogenic
19	8601029	G	A	G8601029A	ADAMTS10	NM_030957.4(ADAMTS10):c.709C>T:p.Arg237Ter	coding	Pathogenic
19	8605046	C	G	C8605046G	ADAMTS10	NM_030957.4(ADAMTS10):c.401G>C:p.Ser134Thr	coding	Benign
19	8605091	C	T	C8605091T	ADAMTS10	NM_030957.4(ADAMTS10):c.356G>A:p.Arg119Gln	coding	Benign
19	8605096	C	T	C8605096T	ADAMTS10	NM_030957.4(ADAMTS10):c.351G>A:p.Ala117=	coding	Benign
19	8605230	C	T	C8605230T	ADAMTS10	NM_030957.4(ADAMTS10):c.217G>A:p.Glu73Lys	coding	Benign/Likely_benign
19	8605243	C	T	C8605243T	ADAMTS10	NM_030957.4(ADAMTS10):c.204G>A:p.Thr68=	coding	Benign
19	8605262	C	T	C8605262T	ADAMTS10	NM_030957.4(ADAMTS10):c.185G>A:p.Arg62Gln	coding	Benign
19	8605638	C	T	C8605638T	ADAMTS10	NM_030957.4(ADAMTS10):c.73G>A:p.Ala25Thr	coding	Pathogenic
19	8882863	C	T	C8882863T	MUC16	NM_024690.2(MUC16):c.41550G>A:p.Glu13850=	coding	Benign
19	8885784	A	C	A8885784C	MUC16	NM_024690.2(MUC16):c.41112T>G:p.Asp13704Glu	coding	Benign
19	8895694	A	G	A8895694G	MUC16	NM_024690.2(MUC16):c.39648T>C:p.Tyr13216=	coding	Benign
19	8935221	G	T	G8935221T	MUC16	NM_024690.2(MUC16):c.35734C>A:p.Pro11912Thr	coding	Benign
19	8938646	G	A	G8938646A	MUC16	NM_024690.2(MUC16):c.32309C>T:p.Thr10770Ile	coding	Benign
19	8946422	T	C	T8946422C	MUC16	NM_024690.2(MUC16):c.30348A>G:p.Leu10116=	coding	Benign
19	8948212	C	T	C8948212T	MUC16	NM_024690.2(MUC16):c.28558G>A:p.Ala9520Thr	coding	Benign
19	8948486	T	C	T8948486C	MUC16	NM_024690.2(MUC16):c.28284A>G:p.Glu9428=	coding	Benign
19	8949452	G	C	G8949452C	MUC16	NM_024690.2(MUC16):c.27318C>G:p.Thr9106=	coding	Benign
19	8949740	G	A	G8949740A	MUC16	NM_024690.2(MUC16):c.27030C>T:p.Ser9010=	coding	Benign
19	8950098	A	G	A8950098G	MUC16	NM_024690.2(MUC16):c.26672T>C:p.Met8891Thr	coding	Benign
19	8950377	G	A	G8950377A	MUC16	NM_024690.2(MUC16):c.26393C>T:p.Ser8798Leu	coding	Benign
19	8950404	G	A	G8950404A	MUC16	NM_024690.2(MUC16):c.26366C>T:p.Pro8789Leu	coding	Benign
19	8950590	G	A	G8950590A	MUC16	NM_024690.2(MUC16):c.26180C>T:p.Ala8727Val	coding	Benign
19	8950884	G	A	G8950884A	MUC16	NM_024690.2(MUC16):c.25886C>T:p.Thr8629Met	coding	Benign
19	8951946	G	A	G8951946A	MUC16	NM_024690.2(MUC16):c.24824C>T:p.Thr8275Met	coding	Benign
19	8954237	G	A	G8954237A	MUC16	NM_024690.2(MUC16):c.22533C>T:p.Ile7511=	coding	Benign
19	8955456	G	A	G8955456A	MUC16	NM_024690.2(MUC16):c.21314C>T:p.Thr7105Ile	coding	Benign
19	8958875	C	T	C8958875T	MUC16	NM_024690.2(MUC16):c.17895G>A:p.Arg5965=	coding	Benign
19	8959588	A	C	A8959588C	MUC16	NM_024690.2(MUC16):c.17182T>G:p.Ser5728Ala	coding	Benign
19	8959601	C	A	C8959601A	MUC16	NM_024690.2(MUC16):c.17169G>T:p.Val5723=	coding	Benign
19	8959754	T	G	T8959754G	MUC16	NM_024690.2(MUC16):c.17016A>C:p.Thr5672=	coding	Benign
19	8961593	T	C	T8961593C	MUC16	NM_024690.2(MUC16):c.15177A>G:p.Leu5059=	coding	Benign
19	8963002	C	G	C8963002G	MUC16	NM_024690.2(MUC16):c.13768G>C:p.Asp4590His	coding	Benign
19	8963211	G	T	G8963211T	MUC16	NM_024690.2(MUC16):c.13559C>A:p.Ala4520Asp	coding	Benign
19	8964089	C	T	C8964089T	MUC16	NM_024690.2(MUC16):c.12681G>A:p.Glu4227=	coding	Benign
19	8964281	T	C	T8964281C	MUC16	NM_024690.2(MUC16):c.12489A>G:p.Val4163=	coding	Benign
19	8966470	A	G	A8966470G	MUC16	NM_024690.2(MUC16):c.10300T>C:p.Ser3434Pro	coding	Benign
19	8972175	G	A	G8972175A	MUC16	NM_024690.2(MUC16):c.8964C>T:p.Ala2988=	coding	Benign
19	8972638	G	A	G8972638A	MUC16	NM_024690.2(MUC16):c.8501C>T:p.Thr2834Met	coding	Benign
19	8972900	C	T	C8972900T	MUC16	NM_024690.2(MUC16):c.8239G>A:p.Ala2747Thr	coding	Benign
19	8973521	T	G	T8973521G	MUC16	NM_024690.2(MUC16):c.7618A>C:p.Thr2540Pro	coding	Benign
19	8973557	C	T	C8973557T	MUC16	NM_024690.2(MUC16):c.7582G>A:p.Ala2528Thr	coding	Benign
19	8973805	C	T	C8973805T	MUC16	NM_024690.2(MUC16):c.7334G>A:p.Gly2445Asp	coding	Benign
19	8975384	C	T	C8975384T	MUC16	NM_024690.2(MUC16):c.5755G>A:p.Ala1919Thr	coding	Benign
19	8975388	A	G	A8975388G	MUC16	NM_024690.2(MUC16):c.5751T>C:p.Pro1917=	coding	Benign
19	8975505	G	A	G8975505A	MUC16	NM_024690.2(MUC16):c.5634C>T:p.Gly1878=	coding	Benign
19	8975593	T	C	T8975593C	MUC16	NM_024690.2(MUC16):c.5546A>G:p.His1849Arg	coding	Benign
19	8975857	T	C	T8975857C	MUC16	NM_024690.2(MUC16):c.5282A>G:p.Glu1761Gly	coding	Benign
19	8976798	G	A	G8976798A	MUC16	NM_024690.2(MUC16):c.4341C>T:p.Pro1447=	coding	Benign
19	8977374	T	G	T8977374G	MUC16	NM_024690.2(MUC16):c.3765A>C:p.Ala1255=	coding	Benign
19	8978018	G	A	G8978018A	MUC16	NM_024690.2(MUC16):c.3121C>T:p.Pro1041Ser	coding	Benign
19	8978045	A	T	A8978045T	MUC16	NM_024690.2(MUC16):c.3094T>A:p.Ser1032Thr	coding	Benign
19	8978996	C	T	C8978996T	MUC16	NM_024690.2(MUC16):c.2143G>A:p.Ala715Thr	coding	Benign
19	8979289	G	A	G8979289A	MUC16	NM_024690.2(MUC16):c.1850C>T:p.Thr617Ile	coding	Benign
19	8980086	C	A	C8980086A	MUC16	NM_024690.2(MUC16):c.1053G>T:p.Gly351=	coding	Benign
19	8981096	G	A	G8981096A	MUC16	NM_024690.2(MUC16):c.43C>T:p.Arg15Cys	coding	Benign
19	9213914	G	A	G9213914A	OR7D4	NM_001005191.2(OR7D4):c.924C>T:p.Ala308=	coding	Benign
19	9338566	T	G	T9338566G	ZNF559	NM_001202406.1(ZNF559):c.209T>G:p.Leu70Trp	coding	Benign
19	9854869	G	A	G9854869A	OLFM2	NM_058164.4(OLFM2):c.688-6C>T	noncoding	Benign
19	9973784	A	G	A9973784G	COL5A3	NM_015719.4(COL5A3):c.3584T>C:p.Val1195Ala	coding	Benign
19	9977451	G	A	G9977451A	COL5A3	NM_015719.4(COL5A3):c.3148C>T:p.Pro1050Ser	coding	Benign
19	9980687	A	G	A9980687G	COL5A3	NM_015719.4(COL5A3):c.2565T>C:p.Asp855=	coding	Benign
19	10093467	G	A	G10093467A	ANGPTL6	NM_001321411.1(ANGPTL6):c.1104C>T:p.Pro368=	coding	Benign
19	10111734	G	A	G10111734A	P2RY11	NM_002566.5(P2RY11):c.13G>A:p.Val5Ile	coding	Benign
19	10113754	C	A	C10113754A	P2RY11	NM_002566.5(P2RY11):c.141C>A:p.Gly47=	coding	Benign
19	10113847	C	T	C10113847T	P2RY11	NM_002566.5(P2RY11):c.234C>T:p.Cys78=	coding	Benign
19	10113943	C	T	C10113943T	P2RY11	NM_002566.5(P2RY11):c.330C>T:p.Thr110=	coding	Benign
19	10113961	C	T	C10113961T	P2RY11	NM_002566.5(P2RY11):c.348C>T:p.Ser116=	coding	Benign
19	10114261	G	A	G10114261A	P2RY11	NM_002566.5(P2RY11):c.648G>A:p.Leu216=	coding	Benign
19	10114384	C	T	C10114384T	P2RY11	NM_002566.5(P2RY11):c.771C>T:p.Tyr257=	coding	Benign
19	10114632	A	G	A10114632G	P2RY11	NM_002566.5(P2RY11):c.1019A>G:p.Asp340Gly	coding	Benign
19	10114659	G	A	G10114659A	P2RY11	NM_002566.5(P2RY11):c.1046G>A:p.Ser349Asn	coding	Benign
19	10114714	C	G	C10114714G	P2RY11	NM_002566.5(P2RY11):c.1101C>G:p.Pro367=	coding	Benign
19	10133344	G	C	G10133344C	DNMT1	NM_001130823.2(DNMT1):c.*323C>G	noncoding	Benign
19	10133380	A	G	A10133380G	DNMT1	NM_001130823.3(DNMT1):c.*287T>C	noncoding	Benign
19	10133855	C	T	C10133855T	DNMT1	NM_001130823.3(DNMT1):c.4865-154G>A	noncoding	Benign
19	10134221	G	A	G10134221A	DNMT1	NM_001130823.3(DNMT1):c.4860C>T:p.Ala1620=	coding	Benign
19	10135718	G	A	G10135718A	DNMT1	NM_001130823.3(DNMT1):c.4773+18C>T	noncoding	Benign/Likely_benign
19	10135867	C	T	C10135867T	DNMT1	NM_001130823.3(DNMT1):c.4657-15G>A	noncoding	Benign
19	10136112	C	T	C10136112T	DNMT1	NM_001130823.3(DNMT1):c.4656+9G>A	noncoding	Benign
19	10136178	G	A	G10136178A	DNMT1	NM_001130823.3(DNMT1):c.4599C>T:p.Leu1533=	coding	Benign/Likely_benign
19	10136274	G	A	G10136274A	DNMT1	NM_001130823.3(DNMT1):c.4503C>T:p.Cys1501=	coding	Benign/Likely_benign
19	10137146	A	C	A10137146C	DNMT1	NM_001130823.3(DNMT1):c.4428T>G:p.His1476Gln	coding	Benign/Likely_benign
19	10137206	G	A	G10137206A	DNMT1	NM_001130823.3(DNMT1):c.4368C>T:p.Pro1456=	coding	Benign/Likely_benign
19	10137979	C	T	C10137979T	DNMT1	NM_001130823.3(DNMT1):c.4146G>A:p.Thr1382=	coding	Benign/Likely_benign
19	10138477	C	G	C10138477G	DNMT1	NM_001130823.3(DNMT1):c.4077G>C:p.Val1359=	coding	Benign
19	10139685	G	A	G10139685A	DNMT1	NM_001130823.3(DNMT1):c.3939C>T:p.Gly1313=	coding	Benign
19	10139688	G	A	G10139688A	DNMT1	NM_001130823.3(DNMT1):c.3936C>T:p.Phe1312=	coding	Benign/Likely_benign
19	10140183	G	A	G10140183A	DNMT1	NM_001130823.3(DNMT1):c.3669C>T:p.Arg1223=	coding	Benign/Likely_benign
19	10140691	G	C	G10140691C	DNMT1	NM_001130823.3(DNMT1):c.3523+90C>G	noncoding	Benign
19	10140812	G	A	G10140812A	DNMT1	NM_001130823.3(DNMT1):c.3492C>T:p.Cys1164=	coding	Benign
19	10140891	G	C	G10140891C	DNMT1	NM_001130823.3(DNMT1):c.3413C>G:p.Ser1138Cys	coding	Benign/Likely_benign
19	10140896	G	C	G10140896C	DNMT1	NM_001130823.3(DNMT1):c.3408C>G:p.Pro1136=	coding	Benign/Likely_benign
19	10141071	A	G	A10141071G	DNMT1	NM_001130823.3(DNMT1):c.3394+34T>C	noncoding	Benign
19	10141148	G	A	G10141148A	DNMT1	NM_001130823.3(DNMT1):c.3351C>T:p.Asn1117=	coding	Benign
19	10141322	A	G	A10141322G	DNMT1	NM_001130823.3(DNMT1):c.3310-133T>C	noncoding	Benign
19	10143439	G	A	G10143439A	DNMT1	NM_001130823.3(DNMT1):c.3116+327C>T	noncoding	Benign
19	10146569	G	A	G10146569A	DNMT1	NM_001130823.3(DNMT1):c.2721-45C>T	noncoding	Benign
19	10148907	C	T	C10148907T	DNMT1	NM_001130823.3(DNMT1):c.2697G>A:p.Gln899=	coding	Benign
19	10148928	G	A	G10148928A	DNMT1	NM_001130823.3(DNMT1):c.2676C>T:p.Phe892=	coding	Benign/Likely_benign
19	10148978	C	T	C10148978T	DNMT1	NM_001130823.3(DNMT1):c.2626G>A:p.Gly876Arg	coding	Benign/Likely_benign
19	10149408	C	T	C10149408T	DNMT1	NM_001130823.3(DNMT1):c.2586+45G>A	noncoding	Benign
19	10149567	C	T	C10149567T	DNMT1	NM_001130823.3(DNMT1):c.2472G>A:p.Thr824=	coding	Benign/Likely_benign
19	10149576	G	A	G10149576A	DNMT1	NM_001130823.3(DNMT1):c.2463C>T:p.Leu821=	coding	Benign
19	10149661	G	A	G10149661A	DNMT1	NM_001130823.3(DNMT1):c.2382-4C>T	noncoding	Benign
19	10151737	C	T	C10151737T	DNMT1	NM_001130823.3(DNMT1):c.2117+13G>A	noncoding	Benign
19	10151857	G	A	G10151857A	DNMT1	NM_001130823.3(DNMT1):c.2020-10C>T	noncoding	Benign/Likely_benign
19	10154302	G	A	G10154302A	DNMT1	NM_001130823.3(DNMT1):c.2010C>T:p.Gly670=	coding	Benign/Likely_benign
19	10154368	G	A	G10154368A	DNMT1	NM_001130823.3(DNMT1):c.1944C>T:p.Phe648=	coding	Benign
19	10154416	C	T	C10154416T	DNMT1	NM_001130823.3(DNMT1):c.1896G>A:p.Thr632=	coding	Benign/Likely_benign
19	10154467	C	T	C10154467T	DNMT1	NM_001130823.3(DNMT1):c.1845G>A:p.Ala615=	coding	Benign
19	10154572	T	C	T10154572C	DNMT1	NM_001130823.3(DNMT1):c.1832+14A>G	noncoding	Benign
19	10154602	C	A	C10154602A	DNMT1	NM_001130823.3(DNMT1):c.1816G>T:p.Val606Phe	coding	Pathogenic
19	10154636	T	C	T10154636C	DNMT1	NM_001130823.3(DNMT1):c.1782A>G:p.Thr594=	coding	Benign
19	10154696	C	T	C10154696T	DNMT1	NM_001130823.3(DNMT1):c.1722G>A:p.Val574=	coding	Benign/Likely_benign
19	10154709	G	A	G10154709A	DNMT1	NM_001130823.3(DNMT1):c.1709C>T:p.Ala570Val	coding	Pathogenic
19	10154917	G	T	G10154917T	DNMT1	NM_001130823.3(DNMT1):c.1632C>A:p.Ile544=	coding	Benign
19	10155017	T	C	T10155017C	DNMT1	NM_001130823.3(DNMT1):c.1532A>G:p.Tyr511Cys	coding	Pathogenic/Likely_pathogenic
19	10155018	A	G	A10155018G	DNMT1	NM_001130823.3(DNMT1):c.1531T>C:p.Tyr511His	coding	Pathogenic
19	10155049	G	A	G10155049A	DNMT1	NM_001130823.3(DNMT1):c.1500C>T:p.Ala500=	coding	Benign
19	10155823	C	T	C10155823T	DNMT1	NM_001130823.3(DNMT1):c.1492+30G>A	noncoding	Benign
19	10156401	T	C	T10156401C	DNMT1	NM_001130823.3(DNMT1):c.1389A>G:p.Pro463=	coding	Benign
19	10159714	G	A	G10159714A	DNMT1	NM_001130823.3(DNMT1):c.1224C>T:p.Asn408=	coding	Benign
19	10159732	C	G	C10159732G	DNMT1	NM_001130823.3(DNMT1):c.1206G>C:p.Leu402=	coding	Benign/Likely_benign
19	10159917	G	A	G10159917A	DNMT1	NM_001130823.3(DNMT1):c.1095C>T:p.His365=	coding	Benign
19	10160426	G	C	G10160426C	DNMT1	NM_001130823.3(DNMT1):c.1009-8C>G	noncoding	Benign
19	10162641	G	A	G10162641A	DNMT1	NM_001130823.3(DNMT1):c.1008+26C>T	noncoding	Benign
19	10162679	G	A	G10162679A	DNMT1	NM_001130823.3(DNMT1):c.996C>T:p.Asp332=	coding	Benign
19	10162694	A	C	A10162694C	DNMT1	NM_001130823.3(DNMT1):c.981T>G:p.Ile327Met	coding	Benign/Likely_benign
19	10162696	T	C	T10162696C	DNMT1	NM_001130823.3(DNMT1):c.979A>G:p.Ile327Val	coding	Benign
19	10163327	G	C	G10163327C	DNMT1	NM_001130823.3(DNMT1):c.925C>G:p.Leu309Val	coding	Benign/Likely_benign
19	10163444	C	T	C10163444T	DNMT1	NM_001130823.3(DNMT1):c.892-84G>A	noncoding	Benign
19	10166590	G	A	G10166590A	DNMT1	NM_001130823.3(DNMT1):c.891+8C>T	noncoding	Benign/Likely_benign
19	10173078	A	T	A10173078T	DNMT1	NM_001130823.3(DNMT1):c.768+12T>A	noncoding	Benign/Likely_benign
19	10173967	C	T	C10173967T	DNMT1	NM_001130823.3(DNMT1):c.649-62G>A	noncoding	Benign
19	10174102	A	G	A10174102G	DNMT1	NM_001130823.3(DNMT1):c.649-197T>C	noncoding	Benign
19	10175555	T	C	T10175555C	DNMT1	NM_001130823.3(DNMT1):c.633A>G:p.Glu211=	coding	Benign
19	10180179	G	A	G10180179A	DNMT1	NM_001130823.3(DNMT1):c.493+8C>T	noncoding	Benign/Likely_benign
19	10180408	G	A	G10180408A	DNMT1	NM_001130823.3(DNMT1):c.387C>T:p.Pro129=	coding	Benign/Likely_benign
19	10180437	C	G	C10180437G	DNMT1	NM_001130823.3(DNMT1):c.358G>C:p.Val120Leu	coding	Benign
19	10180505	T	C	T10180505C	DNMT1	NM_001130823.3(DNMT1):c.290A>G:p.His97Arg	coding	Benign
19	10180797	C	T	C10180797T	DNMT1	NM_001130823.3(DNMT1):c.206G>A:p.Arg69His	coding	Benign
19	10182022	A	G	A10182022G	DNMT1	NM_001130823.3(DNMT1):c.117+19T>C	noncoding	Benign
19	10194971	G	A	G10194971A	DNMT1	NM_001130823.2(DNMT1):c.-72C>T	noncoding	Benign
19	10223856	G	A	G10223856A	S1PR2	NM_004230.4(S1PR2):c.1050C>T:p.Asn350=	coding	Benign
19	10223987	T	G	T10223987G	S1PR2	NM_004230.4(S1PR2):c.919A>C:p.Arg307=	coding	Benign
19	10224003	C	T	C10224003T	S1PR2	NM_004230.4(S1PR2):c.903G>A:p.Arg301=	coding	Benign/Likely_benign
19	10224024	G	A	G10224024A	S1PR2	NM_004230.4(S1PR2):c.882C>T:p.Asp294=	coding	Benign
19	10224049	A	G	A10224049G	S1PR2	NM_004230.4(S1PR2):c.857T>C:p.Val286Ala	coding	Benign/Likely_benign
19	10224234	G	A	G10224234A	S1PR2	NM_004230.4(S1PR2):c.672C>T:p.Ala224=	coding	Benign
19	10224264	G	A	G10224264A	S1PR2	NM_004230.4(S1PR2):c.642C>T:p.Cys214=	coding	Benign
19	10224487	T	C	T10224487C	S1PR2	NM_004230.4(S1PR2):c.419A>G:p.Tyr140Cys	coding	Pathogenic
19	10224583	C	G	C10224583G	S1PR2	NM_004230.4(S1PR2):c.323G>C:p.Arg108Pro	coding	Pathogenic
19	10224657	G	A	G10224657A	S1PR2	NM_004230.4(S1PR2):c.249C>T:p.Gly83=	coding	Benign
19	10224876	G	T	G10224876T	S1PR2	NM_004230.4(S1PR2):c.30C>A:p.Asn10Lys	coding	Benign/Likely_benign
19	10259604	A	C	A10259604C	MRPL4	NM_015956.3(MRPL4):c.740-13A>C	coding	Benign
19	10259609	G	C	G10259609C	MRPL4	NM_015956.3(MRPL4):c.740-8G>C	coding	Benign
19	10284232	C	T	C10284232T	ICAM1	NM_000201.3(ICAM1):c.837C>T:p.Thr279=	coding	Benign
19	10284241	C	T	C10284241T	ICAM1	NM_000201.3(ICAM1):c.846C>T:p.Asp282=	coding	Benign
19	10284572	C	T	C10284572T	ICAM1	NM_000201.3(ICAM1):c.1095C>T:p.Asn365=	coding	Benign
19	10284792	G	A	G10284792A	ICAM1	NM_000201.3(ICAM1):c.1190G>A:p.Arg397Gln	coding	Benign
19	10284826	G	A	G10284826A	ICAM1	NM_000201.3(ICAM1):c.1224G>A:p.Thr408=	coding	Benign
19	10284974	C	T	C10284974T	ICAM1	NM_000201.3(ICAM1):c.1372C>T:p.Arg458Trp	coding	Benign
19	10310540	C	A	C10310540A	FDX2	NM_001031734.4(FDX2):c.507G>T:p.Leu169=	coding	Benign
19	10315506	G	A	G10315506A	FDX2	NM_001031734.4(FDX2):c.210-14C>T	noncoding	Benign
19	10315746	A	C	A10315746C	FDX2	NM_001031734.4(FDX2):c.168T>G:p.Ala56=	coding	Benign
19	10315836	C	T	C10315836T	FDX2	NM_001031734.4(FDX2):c.154+16G>A	noncoding	Benign
19	10315848	G	A	G10315848A	FDX2	NM_001031734.4(FDX2):c.154+4C>T	noncoding	Benign
19	10315921	T	C	T10315921C	FDX2	NM_001031734.4(FDX2):c.85A>G:p.Arg29Gly	coding	Benign
19	10315952	T	C	T10315952C	FDX2	NM_001031734.4(FDX2):c.54A>G:p.Leu18=	coding	Benign
19	10315957	C	G	C10315957G	FDX2	NM_001031734.4(FDX2):c.49G>C:p.Val17Leu	coding	Benign/Likely_benign
19	10315991	G	T	G10315991T	FDX2	NM_001031734.4(FDX2):c.15C>A:p.Ala5=	coding	Benign/Likely_benign
19	10335130	C	T	C10335130T	ICAM3	NM_002162.5(ICAM3):c.873G>A:p.Glu291=	coding	Benign
19	10338674	C	T	C10338674T	ICAM3	NM_002162.5(ICAM3):c.343+8G>A	noncoding	Benign
19	10338838	T	C	T10338838C	ICAM3	NM_002162.5(ICAM3):c.187A>G:p.Ile63Val	coding	Benign
19	10350688	A	T	A10350688T	TYK2	NM_003331.5(TYK2):c.*146T>A	noncoding	Benign
19	10350700	T	C	T10350700C	TYK2	NM_003331.5(TYK2):c.*134A>G	noncoding	Benign
19	10350815	G	A	G10350815A	TYK2	NM_003331.5(TYK2):c.*19C>T	noncoding	Benign
19	10350910	T	C	T10350910C	TYK2	NM_003331.5(TYK2):c.3488A>G:p.Glu1163Gly	coding	Benign
19	10351151	C	T	C10351151T	TYK2	NM_003331.5(TYK2):c.3330G>A:p.Glu1110=	coding	Benign/Likely_benign
19	10352442	G	C	G10352442C	TYK2	NM_003331.5(TYK2):c.3310C>G:p.Pro1104Ala	coding	Benign/Likely_benign
19	10352559	G	A	G10352559A	TYK2	NM_003331.5(TYK2):c.3201-8C>T	noncoding	Benign
19	10352728	C	A	C10352728A	TYK2	NM_003331.5(TYK2):c.3201-177G>T	noncoding	Benign
19	10352804	C	G	C10352804G	TYK2	NM_003331.5(TYK2):c.3200+122G>C	noncoding	Benign
19	10352923	C	T	C10352923T	TYK2	NM_003331.5(TYK2):c.3200+3G>A	noncoding	Benign/Likely_benign
19	10354167	G	A	G10354167A	TYK2	NM_003331.5(TYK2):c.2783C>T:p.Ala928Val	coding	Benign/Likely_benign
19	10354238	G	C	G10354238C	TYK2	NM_003331.5(TYK2):c.2716-4C>G	noncoding	Benign
19	10354244	A	C	A10354244C	TYK2	NM_003331.5(TYK2):c.2716-10T>G	noncoding	Benign
19	10356889	C	T	C10356889T	TYK2	NM_003331.5(TYK2):c.2467-171G>A	noncoding	Benign
19	10357771	G	T	G10357771T	TYK2	NM_003331.5(TYK2):c.2459C>A:p.Pro820His	coding	Benign/Likely_benign
19	10357992	C	G	C10357992G	TYK2	NM_003331.5(TYK2):c.2311+11G>C	noncoding	Benign
19	10358156	G	C	G10358156C	TYK2	NM_003331.5(TYK2):c.2176-18C>G	noncoding	Benign
19	10359023	A	G	A10359023G	TYK2	NM_003331.5(TYK2):c.2175+152T>C	noncoding	Benign
19	10359243	G	A	G10359243A	TYK2	NM_003331.5(TYK2):c.2107C>T:p.Arg703Trp	coding	Benign
19	10359299	A	C	A10359299C	TYK2	NM_003331.5(TYK2):c.2051T>G:p.Ile684Ser	coding	Benign
19	10361404	T	C	T10361404C	TYK2	NM_003331.5(TYK2):c.2047+107A>G	noncoding	Benign
19	10361776	G	A	G10361776A	TYK2	NM_003331.5(TYK2):c.1953C>T:p.Ile651=	coding	Benign
19	10361817	G	A	G10361817A	TYK2	NM_003331.5(TYK2):c.1912C>T:p.Arg638Ter	coding	Pathogenic
19	10361881	A	C	A10361881C	TYK2	NM_003331.5(TYK2):c.1848T>G:p.Pro616=	coding	Benign
19	10361959	C	G	C10361959G	TYK2	NM_003331.5(TYK2):c.1774-4G>C	noncoding	Benign
19	10362257	A	G	A10362257G	TYK2	NM_003331.5(TYK2):c.1669+7T>C	noncoding	Benign
19	10362462	A	G	A10362462G	TYK2	NM_003331.5(TYK2):c.1477-6T>C	noncoding	Benign
19	10362716	G	A	G10362716A	TYK2	NM_003331.5(TYK2):c.1368-59C>T	noncoding	Benign
19	10364973	C	T	C10364973T	TYK2	NM_003331.5(TYK2):c.1087G>A:p.Gly363Ser	coding	Benign
19	10364976	C	A	C10364976A	TYK2	NM_003331.5(TYK2):c.1084G>T:p.Val362Phe	coding	Benign
19	10365586	G	A	G10365586A	TYK2	NM_003331.5(TYK2):c.942C>T:p.His314=	coding	Benign
19	10366456	C	T	C10366456T	TYK2	NM_003331.5(TYK2):c.590G>A:p.Arg197His	coding	Benign
19	10366530	G	A	G10366530A	TYK2	NM_003331.5(TYK2):c.516C>T:p.Thr172=	coding	Benign
19	10366533	C	T	C10366533T	TYK2	NM_003331.5(TYK2):c.513G>A:p.Ser171=	coding	Benign/Likely_benign
19	10368060	C	A	C10368060A	TYK2	NM_003331.5(TYK2):c.460G>T:p.Glu154Ter	coding	Pathogenic
19	10368269	C	T	C10368269T	TYK2	NM_003331.5(TYK2):c.317+26G>A	noncoding	Benign
19	10378250	C	T	C10378250T	TYK2	NM_003331.5(TYK2):c.157G>A:p.Ala53Thr	coding	Benign
19	10378293	G	T	G10378293T	TYK2	NM_003331.5(TYK2):c.114C>A:p.Gly38=	coding	Benign
19	10378495	C	T	C10378495T	TYK2	NM_003331.5(TYK2):c.-20-69G>A	noncoding	Benign
19	10379608	A	C	A10379608C	TYK2	NM_003331.5(TYK2):c.-21+7T>G	noncoding	Benign/Likely_benign
19	10379726	A	G	A10379726G	TYK2	NM_003331.5(TYK2):c.-132T>C	noncoding	Benign
19	10379745	A	C	A10379745C	TYK2	NM_003331.5(TYK2):c.-151T>G	noncoding	Benign
19	10380510	C	T	C10380510T	TYK2	NM_003331.5(TYK2):c.-316G>A	noncoding	Benign
19	10380511	C	T	C10380511T	TYK2	NM_003331.5(TYK2):c.-317G>A	noncoding	Benign
19	10380572	T	C	T10380572C	TYK2	NM_003331.5(TYK2):c.-378A>G	noncoding	Benign
19	10393271	C	T	C10393271T	CDC37	NM_007065.4(CDC37):c.897G>A:p.Glu299=	coding	Benign
19	10393285	C	T	C10393285T	CDC37	NM_007065.4(CDC37):c.883G>A:p.Val295Ile	coding	Benign
19	10395469	G	A	G10395469A	CDC37	NM_007065.4(CDC37):c.453C>T:p.Phe151=	coding	Benign
19	10420815	C	T	C10420815T	PDE4A	NM_001111307.2(PDE4A):c.51C>T:p.Pro17=	coding	Benign
19	10420824	G	C	G10420824C	PDE4A	NM_001111307.2(PDE4A):c.60G>C:p.Arg20=	coding	Benign
19	10450945	T	G	T10450945G	PDE4A	NM_001111307.2(PDE4A):c.783+4T>G	noncoding	Benign
19	10454882	C	T	C10454882T	PDE4A	NM_001111307.2(PDE4A):c.837C>T:p.Ser279=	coding	Benign
19	10457992	C	T	C10457992T	PDE4A	NM_001111307.2(PDE4A):c.991C>T:p.Pro331Ser	coding	Benign/Likely_benign
19	10463819	C	T	C10463819T	PDE4A	NM_001111307.2(PDE4A):c.1770C>T:p.Ala590=	coding	Benign
19	10463873	C	T	C10463873T	PDE4A	NM_001111307.2(PDE4A):c.1824C>T:p.Arg608=	coding	Benign
19	10467155	A	G	A10467155G	PDE4A	NM_001111307.2(PDE4A):c.2195A>G:p.Glu732Gly	coding	Benign
19	10489863	C	T	C10489863T	KEAP1	NM_203500.2(KEAP1):c.1326-10G>A	noncoding	Benign
19	10499941	C	T	C10499941T	KEAP1	NM_203500.2(KEAP1):c.93G>A:p.Val31=	coding	Benign
19	10499944	C	T	C10499944T	KEAP1	NM_203500.2(KEAP1):c.90G>A:p.Ala30=	coding	Benign
19	10514089	A	T	A10514089T	S1PR5	NM_030760.5(S1PR5):c.923T>A:p.Leu308His	coding	Benign
19	10514187	C	T	C10514187T	S1PR5	NM_030760.5(S1PR5):c.825G>A:p.Val275=	coding	Benign
19	10514445	G	A	G10514445A	S1PR5	NM_030760.5(S1PR5):c.567C>T:p.Tyr189=	coding	Benign
19	10514589	C	T	C10514589T	S1PR5	NM_030760.5(S1PR5):c.423G>A:p.Gly141=	coding	Benign
19	10547195	C	T	C10547195T	ATG4D	NM_032885.6(ATG4D):c.777C>T:p.Ala259=	coding	Benign
19	10635053	A	G	A10635053G	SLC44A2	NM_020428.4(SLC44A2):c.1035A>G:p.Ala345=	coding	Benign
19	10635247	C	T	C10635247T	SLC44A2	NM_020428.4(SLC44A2):c.1140C>T:p.Ser380=	coding	Benign
19	10683737	A	G	A10683737G	ILF3	NM_017620.2(ILF3):c.1965A>G:p.Arg655=	coding	Benign
19	10702112	T	G	T10702112G	QTRT1	NM_031209.3(QTRT1):c.313-4T>G	noncoding	Benign
19	10712748	T	C	T10712748C	QTRT1	NM_031209.3(QTRT1):c.862-10T>C	noncoding	Benign
19	10712797	T	C	T10712797C	QTRT1	NM_031209.3(QTRT1):c.901T>C:p.Leu301=	coding	Benign
19	10759731	C	A	C10759731A	DNM2	NM_001005360.2(DNM2):c.162-7C>A	noncoding	Benign/Likely_benign
19	10759817	A	G	A10759817G	DNM2	NM_001005360.2(DNM2):c.235+6A>G	noncoding	Benign/Likely_benign
19	10772450	C	G	C10772450G	DNM2	NM_001005360.2(DNM2):c.236-29C>G	noncoding	Benign
19	10772471	C	G	C10772471G	DNM2	NM_001005360.2(DNM2):c.236-8C>G	noncoding	Benign/Likely_benign
19	10772481	C	T	C10772481T	DNM2	NM_001005360.2(DNM2):c.238C>T:p.His80Tyr	coding	Benign/Likely_benign
19	10775530	G	T	G10775530T	DNM2	NM_001005360.2(DNM2):c.386-173G>T	noncoding	Benign
19	10775697	T	A	T10775697A	DNM2	NM_001005360.2(DNM2):c.386-6T>A	noncoding	Benign/Likely_benign
19	10775697	T	C	T10775697C	DNM2	NM_001005361.3(DNM2):c.386-6T>C	noncoding	Benign
19	10775767	A	G	A10775767G	DNM2	NM_001005360.2(DNM2):c.450A>G:p.Pro150=	coding	Benign/Likely_benign
19	10775836	T	C	T10775836C	DNM2	NM_001005360.2(DNM2):c.519T>C:p.Ala173=	coding	Benign/Likely_benign
19	10775845	C	T	C10775845T	DNM2	NM_001005360.2(DNM2):c.528C>T:p.Pro176=	coding	Benign/Likely_benign
19	10775872	C	T	C10775872T	DNM2	NM_001005360.2(DNM2):c.555C>T:p.Asp185=	coding	Benign/Likely_benign
19	10776950	T	C	T10776950C	DNM2	NM_001005360.2(DNM2):c.590-168T>C	noncoding	Benign
19	10777171	G	A	G10777171A	DNM2	NM_001005360.2(DNM2):c.643G>A:p.Asp215Asn	coding	Benign
19	10777194	C	T	C10777194T	DNM2	NM_001005360.2(DNM2):c.666C>T:p.Asn222=	coding	Benign/Likely_benign
19	10783059	C	T	C10783059T	DNM2	NM_001005360.2(DNM2):c.788C>T:p.Pro263Leu	coding	Benign
19	10783060	G	A	G10783060A	DNM2	NM_001005360.2(DNM2):c.789G>A:p.Pro263=	coding	Benign/Likely_benign
19	10786590	G	A	G10786590A	DNM2	NM_001005360.2(DNM2):c.876G>A:p.Ser292=	coding	Benign/Likely_benign
19	10786596	G	A	G10786596A	DNM2	NM_001005360.2(DNM2):c.882G>A:p.Pro294=	coding	Benign/Likely_benign
19	10786937	G	A	G10786937A	DNM2	NM_001005360.2(DNM2):c.992+231G>A	noncoding	Benign
19	10793799	G	A	G10793799A	DNM2	NM_001190716.2(DNM2):c.1072G>A:p.Gly358Arg	coding	Pathogenic/Likely_pathogenic
19	10793804	C	T	C10793804T	DNM2	NM_001005360.2(DNM2):c.1077C>T:p.Gly359=	coding	Benign
19	10793829	G	A	G10793829A	DNM2	NM_001005360.2(DNM2):c.1102G>A:p.Glu368Lys	coding	Pathogenic
19	10793832	C	T	C10793832T	DNM2	NM_001005360.2(DNM2):c.1105C>T:p.Arg369Trp	coding	Pathogenic
19	10793833	G	A	G10793833A	DNM2	NM_001005360.2(DNM2):c.1106G>A:p.Arg369Gln	coding	Pathogenic
19	10794013	G	C	G10794013C	DNM2	NM_001005360.2(DNM2):c.1128+158G>C	noncoding	Benign
19	10794024	T	C	T10794024C	DNM2	NM_001005360.2(DNM2):c.1128+169T>C	noncoding	Benign
19	10795332	C	T	C10795332T	DNM2	NM_001005360.2(DNM2):c.1129-40C>T	noncoding	Benign
19	10795378	T	G	T10795378G	DNM2	NM_004945.3(DNM2):c.1135T>G:p.Phe379Val	coding	Pathogenic
19	10796082	C	T	C10796082T	DNM2	NM_001005360.2(DNM2):c.1218C>T:p.Asp406=	coding	Benign/Likely_benign
19	10796149	G	A	G10796149A	DNM2	NM_001005361.3(DNM2):c.1196+710G>A	coding	Benign
19	10796150	A	T	A10796150T	DNM2	NM_001005360.2(DNM2):c.1286A>T:p.Asp429Val	coding	Benign
19	10796212	C	T	C10796212T	DNM2	NM_001005360.2(DNM2):c.1335+13C>T	noncoding	Benign
19	10797401	C	T	C10797401T	DNM2	NM_001005361.3(DNM2):c.1218C>T:p.Asp406=	coding	Benign
19	10798527	C	T	C10798527T	DNM2	NM_001005360.2(DNM2):c.1377C>T:p.Ile459=	coding	Benign/Likely_benign
19	10798543	C	T	C10798543T	DNM2	NM_001005360.2(DNM2):c.1393C>T:p.Arg465Trp	coding	Pathogenic
19	10798550	G	A	G10798550A	DNM2	NM_001005361.3(DNM2):c.1400G>A:p.Arg467Gln	coding	Benign
19	10802276	G	A	G10802276A	DNM2	NM_001005360.2(DNM2):c.1423-12G>A	noncoding	Benign/Likely_benign
19	10805873	C	G	C10805873G	DNM2	NM_001005360.2(DNM2):c.1494-43C>G	noncoding	Benign
19	10805934	G	A	G10805934A	DNM2	NM_001005360.2(DNM2):c.1512G>A:p.Thr504=	coding	Benign/Likely_benign
19	10805981	C	G	C10805981G	DNM2	NM_001005360.2(DNM2):c.1545+14C>G	noncoding	Benign/Likely_benign
19	10806008	C	T	C10806008T	DNM2	NM_001005360.2(DNM2):c.1545+41C>T	noncoding	Benign
19	10812257	C	A	C10812257A	DNM2	NM_001005361.3(DNM2):c.1558-7C>A	noncoding	Benign
19	10812271	G	A	G10812271A	DNM2	NM_001005360.2(DNM2):c.1565G>A:p.Arg522His	coding	Pathogenic
19	10812315	G	A	G10812315A	DNM2	NM_004945.3(DNM2):c.1597G>A:p.Gly533Ser	coding	Pathogenic/Likely_pathogenic
19	10812391	G	A	G10812391A	DNM2	NM_001005361.3(DNM2):c.1671+14G>A	noncoding	Benign/Likely_benign
19	10819986	G	A	G10819986A	DNM2	NM_001005360.2(DNM2):c.1678G>A:p.Glu560Lys	coding	Pathogenic
19	10820039	G	A	G10820039A	DNM2	NM_001005360.2(DNM2):c.1731G>A:p.Lys577=	coding	Benign
19	10823777	C	T	C10823777T	DNM2	NM_001005360.2(DNM2):c.1782-11C>T	noncoding	Benign
19	10823783	C	T	C10823783T	DNM2	NM_001005360.2(DNM2):c.1782-5C>T	noncoding	Benign/Likely_benign
19	10823842	C	T	C10823842T	DNM2	NM_001005360.2(DNM2):c.1836C>T:p.Asp612=	coding	Benign/Likely_benign
19	10823843	G	A	G10823843A	DNM2	NM_001005360.2(DNM2):c.1837G>A:p.Val613Met	coding	Benign/Likely_benign
19	10823858	G	A	G10823858A	DNM2	NM_001005360.2(DNM2):c.1852G>A:p.Ala618Thr	coding	Pathogenic
19	10823859	C	A	C10823859A	DNM2	NM_001005360.2(DNM2):c.1853C>A:p.Ala618Asp	coding	Pathogenic
19	10823862	C	G	C10823862G	DNM2	NM_004945.3(DNM2):c.1844C>G:p.Ser615Trp	coding	Pathogenic
19	10823862	C	T	C10823862T	DNM2	NM_001005360.2(DNM2):c.1856C>T:p.Ser619Leu	coding	Pathogenic/Likely_pathogenic
19	10823868	T	C	T10823868C	DNM2	NM_001005360.2(DNM2):c.1862T>C:p.Leu621Pro	coding	Pathogenic
19	10823885	C	G	C10823885G	DNM2	NM_001005360.2(DNM2):c.1879C>G:p.Pro627Ala	coding	Pathogenic
19	10823886	C	G	C10823886G	DNM2	NM_001005360.2(DNM2):c.1880C>G:p.Pro627Arg	coding	Pathogenic/Likely_pathogenic
19	10823900	G	A	G10823900A	DNM2	NM_001005361.3(DNM2):c.1893+1G>A	coding	Pathogenic
19	10824147	T	C	T10824147C	DNM2	NM_001005360.2(DNM2):c.1893+248T>C	noncoding	Benign
19	10825065	C	T	C10825065T	DNM2	NM_001005360.2(DNM2):c.1902C>T:p.Asn634=	coding	Benign/Likely_benign
19	10825111	G	A	G10825111A	DNM2	NM_001005361.3(DNM2):c.1948G>A:p.Glu650Lys	coding	Pathogenic
19	10829031	C	T	C10829031T	DNM2	NM_001005360.2(DNM2):c.2059-5C>T	coding	Benign/Likely_benign
19	10829038	G	A	G10829038A	DNM2	NM_001005360.2(DNM2):c.2061G>A:p.Thr687=	coding	Benign/Likely_benign
19	10829116	T	C	T10829116C	DNM2	NM_001005361.3(DNM2):c.2139T>C:p.Ala713=	coding	Benign/Likely_benign
19	10829137	C	T	C10829137T	DNM2	NM_001005360.2(DNM2):c.2160C>T:p.Asp720=	coding	Benign
19	10830148	G	A	G10830148A	DNM2	NM_001005360.2(DNM2):c.2313G>A:p.Pro771=	coding	Benign/Likely_benign
19	10830319	G	A	G10830319A	DNM2	NM_001005360.2(DNM2):c.2484G>A:p.Pro828=	coding	Benign
19	10830346	G	A	G10830346A	DNM2	NM_001005360.2(DNM2):c.2511G>A:p.Arg837=	coding	Benign/Likely_benign
19	10830385	C	G	C10830385G	DNM2	NM_001005360.2(DNM2):c.2543+7C>G	noncoding	Benign/Likely_benign
19	10831001	G	A	G10831001A	DNM2	NM_001005360.2(DNM2):c.2567G>A:p.Ser856Asn	coding	Benign/Likely_benign
19	10831057	G	A	G10831057A	DNM2	NM_001005360.2(DNM2):c.*10G>A	noncoding	Benign
19	10831061	C	T	C10831061T	DNM2	NM_001005360.2(DNM2):c.*14C>T	noncoding	Benign/Likely_benign
19	10831069	C	T	C10831069T	DNM2	NM_001005360.2(DNM2):c.*22C>T	noncoding	Benign
19	10831082	C	G	C10831082G	DNM2	NM_001005360.2(DNM2):c.*35C>G	noncoding	Benign
19	10831094	G	A	G10831094A	DNM2	NM_001005360.2(DNM2):c.*47G>A	noncoding	Benign
19	10831315	A	T	A10831315T	DNM2	NM_001005360.2(DNM2):c.*268A>T	noncoding	Benign
19	10831368	A	G	A10831368G	DNM2	NM_001005361.3(DNM2):c.*321A>G	noncoding	Benign
19	10831432	C	T	C10831432T	DNM2	NM_001005360.2(DNM2):c.*385C>T	noncoding	Benign
19	10831433	G	C	G10831433C	DNM2	NM_001005360.2(DNM2):c.*386G>C	noncoding	Benign
19	10831500	C	T	C10831500T	DNM2	NM_001005360.2(DNM2):c.*453C>T	noncoding	Benign
19	10831648	C	T	C10831648T	DNM2	NM_001005360.2(DNM2):c.*601C>T	noncoding	Benign
19	10831654	G	A	G10831654A	DNM2	NM_001005360.2(DNM2):c.*607G>A	noncoding	Benign
19	10831718	T	C	T10831718C	DNM2	NM_001005361.3(DNM2):c.*671T>C	noncoding	Benign
19	10913885	G	A	G10913885A	CARM1	NM_199141.2(CARM1):c.678G>A:p.Val226=	coding	Benign
19	10960884	G	T	G10960884T	SMARCA4	NC_000019.10:g.10960884G>T	noncoding	Benign
19	10984205	G	A	G10984205A	SMARCA4	NM_001128849.2(SMARCA4):c.54G>A:p.Pro18=	coding	Benign/Likely_benign
19	10984271	C	T	C10984271T	SMARCA4	NM_001128849.2(SMARCA4):c.120C>T:p.His40=	coding	Benign/Likely_benign
19	10984298	G	A	G10984298A	SMARCA4	NM_001128849.2(SMARCA4):c.147G>A:p.Pro49=	coding	Benign/Likely_benign
19	10984387	T	C	T10984387C	SMARCA4	NM_001128849.2(SMARCA4):c.222+14T>C	noncoding	Benign/Likely_benign
19	10985034	T	C	T10985034C	SMARCA4	NM_001128849.2(SMARCA4):c.223-239T>C	noncoding	Benign
19	10985220	T	C	T10985220C	SMARCA4	NM_001128849.2(SMARCA4):c.223-53T>C	noncoding	Benign
19	10985266	C	G	C10985266G	SMARCA4	NM_001128849.2(SMARCA4):c.223-7C>G	noncoding	Benign/Likely_benign
19	10985269	G	A	G10985269A	SMARCA4	NM_001128849.2(SMARCA4):c.223-4G>A	noncoding	Benign/Likely_benign
19	10985279	G	T	G10985279T	SMARCA4	NM_001128849.2(SMARCA4):c.229G>T:p.Glu77Ter	coding	Pathogenic
19	10985414	C	T	C10985414T	SMARCA4	NM_001128849.2(SMARCA4):c.355+9C>T	noncoding	Benign/Likely_benign
19	10986175	A	G	A10986175G	SMARCA4	NM_001128849.2(SMARCA4):c.356-14A>G	noncoding	Benign
19	10986198	C	A	C10986198A	SMARCA4	NM_003072.5(SMARCA4):c.365C>A:p.Ser122Ter	coding	Pathogenic
19	10986274	C	T	C10986274T	SMARCA4	NM_001128849.2(SMARCA4):c.441C>T:p.Ser147=	coding	Benign/Likely_benign
19	10986292	G	A	G10986292A	SMARCA4	NM_001128849.2(SMARCA4):c.459G>A:p.Pro153=	coding	Benign/Likely_benign
19	10986326	C	T	C10986326T	SMARCA4	NM_001128849.2(SMARCA4):c.493C>T:p.Gln165Ter	coding	Pathogenic
19	10986422	C	T	C10986422T	SMARCA4	NM_001128849.2(SMARCA4):c.589C>T:p.Pro197Ser	coding	Benign/Likely_benign
19	10986476	C	T	C10986476T	SMARCA4	NM_003072.4(SMARCA4):c.643C>T:p.Gln215Ter	coding	Pathogenic
19	10986541	T	C	T10986541C	SMARCA4	NM_001128849.2(SMARCA4):c.708T>C:p.Pro236=	coding	Benign/Likely_benign
19	10986580	C	T	C10986580T	SMARCA4	NM_001128849.2(SMARCA4):c.747C>T:p.Tyr249=	coding	Benign/Likely_benign
19	10986900	T	C	T10986900C	SMARCA4	NM_001128849.2(SMARCA4):c.761-5T>C	noncoding	Benign/Likely_benign
19	10986967	C	T	C10986967T	SMARCA4	NM_001128849.2(SMARCA4):c.823C>T:p.Gln275Ter	coding	Pathogenic
19	10987010	T	A	T10987010A	SMARCA4	NM_001128849.2(SMARCA4):c.859+7T>A	noncoding	Benign/Likely_benign
19	10987721	G	A	G10987721A	SMARCA4	NM_001128849.2(SMARCA4):c.915G>A:p.Pro305=	coding	Benign
19	10987722	C	T	C10987722T	SMARCA4	NM_003072.5(SMARCA4):c.916C>T:p.Gln306Ter	coding	Pathogenic
19	10987736	C	A	C10987736A	SMARCA4	NM_001128849.2(SMARCA4):c.930C>A:p.Arg310=	coding	Benign/Likely_benign
19	10987748	G	A	G10987748A	SMARCA4	NM_001128849.2(SMARCA4):c.942G>A:p.Ala314=	coding	Benign/Likely_benign
19	10987787	A	C	A10987787C	SMARCA4	NM_001128849.2(SMARCA4):c.981A>C:p.Pro327=	coding	Benign/Likely_benign
19	10987880	G	A	G10987880A	SMARCA4	NM_001128849.2(SMARCA4):c.1074G>A:p.Pro358=	coding	Benign/Likely_benign
19	10987904	C	T	C10987904T	SMARCA4	NM_001128849.2(SMARCA4):c.1098C>T:p.Ile366=	coding	Benign
19	10987905	C	T	C10987905T	SMARCA4	NM_001128849.2(SMARCA4):c.1099C>T:p.Leu367=	coding	Benign/Likely_benign
19	10987910	G	A	G10987910A	SMARCA4	NM_001128849.2(SMARCA4):c.1104G>A:p.Gln368=	coding	Benign/Likely_benign
19	10987920	T	C	T10987920C	SMARCA4	NM_001128849.2(SMARCA4):c.1114T>C:p.Tyr372His	coding	Benign
19	10989305	C	T	C10989305T	SMARCA4	NM_001128849.2(SMARCA4):c.1119-12C>T	noncoding	Benign/Likely_benign
19	10989338	C	T	C10989338T	SMARCA4	NM_001128849.2(SMARCA4):c.1140C>T:p.His380=	coding	Benign/Likely_benign
19	10989339	C	T	C10989339T	SMARCA4	NM_001128849.2(SMARCA4):c.1141C>T:p.Arg381Ter	coding	Pathogenic
19	10989387	C	T	C10989387T	SMARCA4	NM_001128849.2(SMARCA4):c.1189C>T:p.Arg397Ter	coding	Pathogenic
19	10989407	G	A	G10989407A	SMARCA4	NM_001128849.2(SMARCA4):c.1209G>A:p.Glu403=	coding	Benign/Likely_benign
19	10989441	C	T	C10989441T	SMARCA4	NM_003072.5(SMARCA4):c.1243C>T:p.Gln415Ter	coding	Pathogenic
19	10991312	C	T	C10991312T	SMARCA4	NM_001128849.2(SMARCA4):c.1408C>T:p.Gln470Ter	coding	Pathogenic
19	10991317	G	A	G10991317A	SMARCA4	NM_001128849.2(SMARCA4):c.1413G>A:p.Lys471=	coding	Benign
19	10991330	T	C	T10991330C	SMARCA4	NM_001128849.2(SMARCA4):c.1419+7T>C	noncoding	Benign/Likely_benign
19	10991331	C	T	C10991331T	SMARCA4	NM_001128849.2(SMARCA4):c.1419+8C>T	noncoding	Benign
19	10991332	C	T	C10991332T	SMARCA4	NM_001128849.2(SMARCA4):c.1419+9C>T	noncoding	Benign/Likely_benign
19	10994917	A	G	A10994917G	SMARCA4	NM_001128849.2(SMARCA4):c.1509A>G:p.Ala503=	coding	Benign
19	10994932	T	C	T10994932C	SMARCA4	NM_001128849.2(SMARCA4):c.1524T>C:p.His508=	coding	Benign
19	10994951	C	T	C10994951T	SMARCA4	NM_003072.5(SMARCA4):c.1543C>T:p.Gln515Ter	coding	Pathogenic
19	10994965	C	T	C10994965T	SMARCA4	NM_001128849.2(SMARCA4):c.1557C>T:p.Asn519=	coding	Benign/Likely_benign
19	10994975	G	T	G10994975T	SMARCA4	NM_003072.5(SMARCA4):c.1567G>T:p.Glu523Ter	coding	Pathogenic
19	10996114	T	C	T10996114C	SMARCA4	NM_001128849.2(SMARCA4):c.1594-99T>C	noncoding	Benign
19	10996285	C	T	C10996285T	SMARCA4	NM_001128849.2(SMARCA4):c.1666C>T:p.Gln556Ter	coding	Pathogenic
19	10996294	G	A	G10996294A	SMARCA4	NM_003072.5(SMARCA4):c.1675G>A:p.Glu559Lys	coding	Pathogenic
19	10996299	C	G	C10996299G	SMARCA4	NM_003072.5(SMARCA4):c.1680C>G:p.Tyr560Ter	coding	Pathogenic
19	10996359	A	G	A10996359G	SMARCA4	NM_001128849.2(SMARCA4):c.1740A>G:p.Lys580=	coding	Benign/Likely_benign
19	10996457	T	C	T10996457C	SMARCA4	NM_001128849.2(SMARCA4):c.1762-37T>C	noncoding	Benign
19	10996535	G	A	G10996535A	SMARCA4	NM_001128849.2(SMARCA4):c.1803G>A:p.Pro601=	coding	Benign/Likely_benign
19	11002844	G	A	G11002844A	SMARCA4	NM_001128849.2(SMARCA4):c.1813-185G>A	noncoding	Benign
19	11002975	T	C	T11002975C	SMARCA4	NM_001128849.2(SMARCA4):c.1813-54T>C	noncoding	Benign
19	11003047	C	T	C11003047T	SMARCA4	NM_001128849.2(SMARCA4):c.1831C>T:p.Gln611Ter	coding	Pathogenic
19	11003226	G	A	G11003226A	SMARCA4	NM_001128849.2(SMARCA4):c.1943+67G>A	noncoding	Benign
19	11003321	G	T	G11003321T	SMARCA4	NM_001128849.2(SMARCA4):c.1944-19G>T	noncoding	Benign
19	11003328	C	T	C11003328T	SMARCA4	NM_001128849.2(SMARCA4):c.1944-12C>T	noncoding	Benign/Likely_benign
19	11003405	T	G	T11003405G	SMARCA4	NM_001128849.2(SMARCA4):c.2001+8T>G	noncoding	Benign/Likely_benign
19	11003530	C	T	C11003530T	SMARCA4	NM_001128849.2(SMARCA4):c.2001+133C>T	noncoding	Benign
19	11007922	G	T	G11007922T	SMARCA4	NM_001128849.2(SMARCA4):c.2022G>T:p.Pro674=	coding	Benign/Likely_benign
19	11007932	C	T	C11007932T	SMARCA4	NM_001128849.2(SMARCA4):c.2032C>T:p.Gln678Ter	coding	Pathogenic
19	11007985	C	T	C11007985T	SMARCA4	NM_001128849.2(SMARCA4):c.2085C>T:p.Ser695=	coding	Benign/Likely_benign
19	11008035	C	T	C11008035T	SMARCA4	NM_001128849.2(SMARCA4):c.2123+12C>T	noncoding	Benign
19	11010261	C	T	C11010261T	SMARCA4	NM_001128849.2(SMARCA4):c.2124-120C>T	noncoding	Benign
19	11010421	C	T	C11010421T	SMARCA4	NM_001128849.2(SMARCA4):c.2164C>T:p.Gln722Ter	coding	Pathogenic
19	11010456	C	T	C11010456T	SMARCA4	NM_001128849.2(SMARCA4):c.2199C>T:p.Ala733=	coding	Benign/Likely_benign
19	11012939	G	A	G11012939A	SMARCA4	NM_001128849.2(SMARCA4):c.2275-10G>A	noncoding	Benign/Likely_benign
19	11012961	G	T	G11012961T	SMARCA4	NM_001128849.2(SMARCA4):c.2287G>T:p.Glu763Ter	coding	Pathogenic
19	11012966	G	A	G11012966A	SMARCA4	NM_003072.5(SMARCA4):c.2292G>A:p.Trp764Ter	coding	Pathogenic
19	11013021	C	T	C11013021T	SMARCA4	NM_001128849.2(SMARCA4):c.2347C>T:p.Leu783=	coding	Benign/Likely_benign
19	11013022	T	C	T11013022C	SMARCA4	NM_001128849.2(SMARCA4):c.2348T>C:p.Leu783Pro	coding	Pathogenic
19	11013062	C	T	C11013062T	SMARCA4	NM_001128849.2(SMARCA4):c.2388C>T:p.Leu796=	coding	Benign
19	11013083	T	C	T11013083C	SMARCA4	NM_001128849.2(SMARCA4):c.2409T>C:p.Asn803=	coding	Benign/Likely_benign
19	11018924	C	T	C11018924T	SMARCA4	NM_001128849.2(SMARCA4):c.2439-33C>T	noncoding	Benign
19	11019577	T	C	T11019577C	SMARCA4	NM_001128849.2(SMARCA4):c.2506-14T>C	noncoding	Benign/Likely_benign
19	11019661	C	T	C11019661T	SMARCA4	NM_003072.4(SMARCA4):c.2576C>T:p.Thr859Met	coding	Pathogenic
19	11019665	C	T	C11019665T	SMARCA4	NM_001128849.2(SMARCA4):c.2580C>T:p.Tyr860=	coding	Benign/Likely_benign
19	11021721	G	A	G11021721A	SMARCA4	NM_001128849.2(SMARCA4):c.2617-4G>A	noncoding	Benign
19	11021722	C	G	C11021722G	SMARCA4	NM_003072.4(SMARCA4):c.2617-3C>G	noncoding	Pathogenic
19	11021745	T	C	T11021745C	SMARCA4	NM_001128849.2(SMARCA4):c.2637T>C:p.Ile879=	coding	Benign/Likely_benign
19	11021761	C	T	C11021761T	SMARCA4	NM_003072.4(SMARCA4):c.2653C>T:p.Arg885Cys	coding	Pathogenic
19	11021762	G	A	G11021762A	SMARCA4	NM_001128849.2(SMARCA4):c.2654G>A:p.Arg885His	coding	Pathogenic
19	11021847	G	A	G11021847A	SMARCA4	NM_001128849.2(SMARCA4):c.2739G>A:p.Pro913=	coding	Benign/Likely_benign
19	11021865	C	T	C11021865T	SMARCA4	NM_001128849.2(SMARCA4):c.2757C>T:p.Pro919=	coding	Benign
19	11021869	C	T	C11021869T	SMARCA4	NM_003072.4(SMARCA4):c.2761C>T:p.Leu921Phe	coding	Pathogenic
19	11021871	C	T	C11021871T	SMARCA4	NM_001128849.2(SMARCA4):c.2763C>T:p.Leu921=	coding	Benign/Likely_benign
19	11021925	C	T	C11021925T	SMARCA4	NM_001128849.2(SMARCA4):c.2817C>T:p.Phe939=	coding	Benign/Likely_benign
19	11021936	T	G	T11021936G	SMARCA4	NM_001128849.2(SMARCA4):c.2828T>G:p.Phe943Cys	coding	Pathogenic
19	11021959	G	A	G11021959A	SMARCA4	NM_003072.4(SMARCA4):c.2851G>A:p.Gly951Arg	coding	Pathogenic
19	11023414	A	G	A11023414G	SMARCA4	NM_001128849.2(SMARCA4):c.2860-104A>G	noncoding	Benign
19	11023590	C	T	C11023590T	SMARCA4	NM_001128849.2(SMARCA4):c.2932C>T:p.Arg978Ter	coding	Pathogenic
19	11023593	C	T	C11023593T	SMARCA4	NM_003072.5(SMARCA4):c.2935C>T:p.Arg979Ter	coding	Pathogenic
19	11023645	G	A	G11023645A	SMARCA4	NM_001128849.2(SMARCA4):c.2973+14G>A	noncoding	Benign/Likely_benign
19	11024076	G	A	G11024076A	SMARCA4	NM_001128849.2(SMARCA4):c.2974-255G>A	noncoding	Benign
19	11024327	G	A	G11024327A	SMARCA4	NM_001128849.2(SMARCA4):c.2974-4G>A	noncoding	Benign/Likely_benign
19	11024389	T	C	T11024389C	SMARCA4	NM_003072.4(SMARCA4):c.3032T>C:p.Met1011Thr	coding	Pathogenic
19	11024402	C	T	C11024402T	SMARCA4	NM_001128849.2(SMARCA4):c.3045C>T:p.Gly1015=	coding	Benign/Likely_benign
19	11024423	C	T	C11024423T	SMARCA4	NM_001128849.2(SMARCA4):c.3066C>T:p.Ser1022=	coding	Benign/Likely_benign
19	11025510	T	C	T11025510C	SMARCA4	NM_003072.5(SMARCA4):c.3168+2T>C	noncoding	Pathogenic
19	11025517	G	A	G11025517A	SMARCA4	NM_001128849.2(SMARCA4):c.3168+9G>A	noncoding	Benign
19	11025539	C	G	C11025539G	SMARCA4	NM_001128849.2(SMARCA4):c.3168+31C>G	noncoding	Benign
19	11025639	C	T	C11025639T	SMARCA4	NM_001128849.2(SMARCA4):c.3168+131C>T	noncoding	Benign
19	11026181	C	T	C11026181T	SMARCA4	NM_001128849.2(SMARCA4):c.3169-119C>T	noncoding	Benign
19	11026300	G	T	G11026300T	SMARCA4	NM_003072.5(SMARCA4):c.3169G>T:p.Glu1057Ter	coding	Pathogenic
19	11026459	T	C	T11026459C	SMARCA4	NM_001128849.2(SMARCA4):c.3215+113T>C	noncoding	Benign
19	11027616	A	G	A11027616G	SMARCA4	NM_001128849.2(SMARCA4):c.3216-168A>G	noncoding	Benign
19	11027807	G	A	G11027807A	SMARCA4	NM_003072.4(SMARCA4):c.3239G>A:p.Gly1080Asp	coding	Pathogenic
19	11030725	G	A	G11030725A	SMARCA4	NM_001128849.2(SMARCA4):c.3383-5G>A	noncoding	Benign/Likely_benign
19	11030816	C	G	C11030816G	SMARCA4	NM_003072.4(SMARCA4):c.3469C>G:p.Arg1157Gly	coding	Pathogenic
19	11030843	C	T	C11030843T	SMARCA4	NM_003072.5(SMARCA4):c.3496C>T:p.Gln1166Ter	coding	Pathogenic
19	11030880	G	A	G11030880A	SMARCA4	NM_003072.4(SMARCA4):c.3533G>A:p.Trp1178Ter	coding	Pathogenic
19	11033135	C	G	C11033135G	SMARCA4	NM_001128849.2(SMARCA4):c.3547-155C>G	noncoding	Benign
19	11033279	T	C	T11033279C	SMARCA4	NM_001128849.2(SMARCA4):c.3547-11T>C	noncoding	Benign
19	11033299	G	A	G11033299A	SMARCA4	NM_001128849.2(SMARCA4):c.3556G>A:p.Ala1186Thr	coding	Pathogenic
19	11033301	G	A	G11033301A	SMARCA4	NM_001128849.2(SMARCA4):c.3558G>A:p.Ala1186=	coding	Benign/Likely_benign
19	11033302	C	T	C11033302T	SMARCA4	NM_003072.5(SMARCA4):c.3559C>T:p.Gln1187Ter	coding	Pathogenic
19	11033308	C	T	C11033308T	SMARCA4	NM_001128849.2(SMARCA4):c.3565C>T:p.Arg1189Ter	coding	Pathogenic
19	11033406	G	A	G11033406A	SMARCA4	NM_001128849.2(SMARCA4):c.3663G>A:p.Lys1221=	coding	Benign/Likely_benign
19	11033412	C	T	C11033412T	SMARCA4	NM_001128849.2(SMARCA4):c.3669C>T:p.Asn1223=	coding	Benign/Likely_benign
19	11033481	C	T	C11033481T	SMARCA4	NM_001128849.2(SMARCA4):c.3738C>T:p.Phe1246=	coding	Benign/Likely_benign
19	11033508	G	A	G11033508A	SMARCA4	NM_001128849.2(SMARCA4):c.3765G>A:p.Glu1255=	coding	Benign
19	11034140	C	G	C11034140G	SMARCA4	NM_001128849.2(SMARCA4):c.3891C>G:p.Pro1297=	coding	Benign/Likely_benign
19	11034176	C	T	C11034176T	SMARCA4	NM_001128849.2(SMARCA4):c.3927C>T:p.His1309=	coding	Benign/Likely_benign
19	11034973	C	T	C11034973T	SMARCA4	NM_001128849.2(SMARCA4):c.4011C>T:p.Leu1337=	coding	Benign/Likely_benign
19	11035015	C	T	C11035015T	SMARCA4	NM_001128849.2(SMARCA4):c.4053C>T:p.Asp1351=	coding	Benign
19	11035133	G	A	G11035133A	SMARCA4	NM_003072.4(SMARCA4):c.4170+1G>A	coding	Pathogenic
19	11035177	G	A	G11035177A	SMARCA4	NM_001128849.2(SMARCA4):c.4170+45G>A	noncoding	Benign
19	11041294	A	G	A11041294G	SMARCA4	NM_001128849.2(SMARCA4):c.4267-13A>G	noncoding	Benign/Likely_benign
19	11041315	G	A	G11041315A	SMARCA4	NM_001128849.2(SMARCA4):c.4275G>A:p.Glu1425=	coding	Benign/Likely_benign
19	11041363	A	G	A11041363G	SMARCA4	NM_001128849.2(SMARCA4):c.4323A>G:p.Ser1441=	coding	Benign/Likely_benign
19	11041379	C	T	C11041379T	SMARCA4	NM_001128849.2(SMARCA4):c.4339C>T:p.Arg1447Ter	coding	Pathogenic
19	11041387	C	T	C11041387T	SMARCA4	NM_001128849.2(SMARCA4):c.4347C>T:p.Ser1449=	coding	Benign/Likely_benign
19	11041408	G	A	G11041408A	SMARCA4	NM_001128849.2(SMARCA4):c.4368G>A:p.Pro1456=	coding	Benign/Likely_benign
19	11041429	C	T	C11041429T	SMARCA4	NM_001128849.2(SMARCA4):c.4389C>T:p.Arg1463=	coding	Benign/Likely_benign
19	11058122	G	A	G11058122A	SMARCA4	NM_001128849.2(SMARCA4):c.4521-133G>A	noncoding	Benign
19	11058220	A	G	A11058220G	SMARCA4	NM_001128849.2(SMARCA4):c.4521-35A>G	noncoding	Benign
19	11058288	C	T	C11058288T	SMARCA4	NM_003072.5(SMARCA4):c.4458C>T:p.Ile1486=	coding	Benign/Likely_benign
19	11058301	C	T	C11058301T	SMARCA4	NM_001128849.2(SMARCA4):c.4567C>T:p.Arg1523Ter	coding	Pathogenic
19	11058324	C	T	C11058324T	SMARCA4	NM_001128849.2(SMARCA4):c.4590C>T:p.Tyr1530=	coding	Benign/Likely_benign
19	11058342	C	T	C11058342T	SMARCA4	NM_001128849.2(SMARCA4):c.4608C>T:p.Pro1536=	coding	Benign/Likely_benign
19	11058838	C	T	C11058838T	SMARCA4	NM_001128849.2(SMARCA4):c.4680C>T:p.Asp1560=	coding	Benign
19	11058854	C	T	C11058854T	SMARCA4	NM_003072.5(SMARCA4):c.4600C>T:p.Gln1534Ter	coding	Pathogenic
19	11058901	G	A	G11058901A	SMARCA4	NM_001128849.2(SMARCA4):c.4731+12G>A	noncoding	Benign/Likely_benign
19	11059777	C	T	C11059777T	SMARCA4	NM_001128849.2(SMARCA4):c.4756C>T:p.Gln1586Ter	coding	Pathogenic
19	11059809	C	T	C11059809T	SMARCA4	NM_001128849.2(SMARCA4):c.4788C>T:p.Ile1596=	coding	Benign/Likely_benign
19	11059855	G	T	G11059855T	SMARCA4	NM_001128849.2(SMARCA4):c.4834G>T:p.Glu1612Ter	coding	Pathogenic
19	11059895	G	A	G11059895A	SMARCA4	NM_001128849.2(SMARCA4):c.4864+10G>A	noncoding	Benign/Likely_benign
19	11059900	G	C	G11059900C	SMARCA4	NM_001128849.2(SMARCA4):c.4864+15G>C	noncoding	Benign/Likely_benign
19	11060049	G	A	G11060049A	SMARCA4	NM_001128849.2(SMARCA4):c.4869G>A:p.Arg1623=	coding	Benign/Likely_benign
19	11060148	G	A	G11060148A	SMARCA4	NM_001128849.2(SMARCA4):c.4968G>A:p.Pro1656=	coding	Benign/Likely_benign
19	11060163	T	C	T11060163C	SMARCA4	NM_001128849.2(SMARCA4):c.4983T>C:p.Asp1661=	coding	Benign
19	11061623	G	A	G11061623A	SMARCA4	NM_001128849.2(SMARCA4):c.5008-161G>A	noncoding	Benign
19	11061817	G	T	G11061817T	SMARCA4	NM_001128849.2(SMARCA4):c.*1G>T	coding	Benign
19	11062143	T	C	T11062143C	SMARCA4	NM_001128849.2(SMARCA4):c.*327T>C	noncoding	Benign
19	11062217	G	A	G11062217A	SMARCA4	NM_001128849.2(SMARCA4):c.*401G>A	noncoding	Benign
19	11087511	C	T	C11087511T	LDLR	NM_000527.4(LDLR):c.-2038C>T	noncoding	Benign
19	11089281	G	T	G11089281T	LDLR	NM_000527.4(LDLR):c.-268G>T	noncoding	Benign/Likely_benign
19	11089377	G	A	G11089377A	LDLR	NM_000527.4(LDLR):c.-172G>A	noncoding	Pathogenic
19	11089398	C	G	C11089398G	LDLR	NM_000527.4(LDLR):c.-151C>G	noncoding	Pathogenic
19	11089399	A	G	A11089399G	LDLR	NM_000527.4(LDLR):c.-150A>G	noncoding	Pathogenic
19	11089414	C	G	C11089414G	LDLR	NM_000527.4(LDLR):c.-135C>G	noncoding	Pathogenic/Likely_pathogenic
19	11089451	C	T	C11089451T	LDLR	NM_000527.4(LDLR):c.-98C>T	noncoding	Pathogenic
19	11089536	A	G	A11089536G	LDLR	NM_000527.5(LDLR):c.-13A>G	noncoding	Benign/Likely_benign
19	11089549	A	T	A11089549T	LDLR	NM_000527.5(LDLR):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
19	11089551	G	A	G11089551A	LDLR	NM_000527.4(LDLR):c.3G>A:p.Met1Ile	coding	Pathogenic
19	11089551	G	T	G11089551T	LDLR	NM_000527.5(LDLR):c.3G>T:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
19	11089559	G	A	G11089559A	LDLR	NM_000527.5(LDLR):c.11G>A:p.Trp4Ter	coding	Pathogenic
19	11089560	G	A	G11089560A	LDLR	NM_000527.5(LDLR):c.12G>A:p.Trp4Ter	coding	Pathogenic
19	11089576	T	C	T11089576C	LDLR	NM_000527.5(LDLR):c.28T>C:p.Trp10Arg	coding	Pathogenic/Likely_pathogenic
19	11089577	G	A	G11089577A	LDLR	NM_000527.4(LDLR):c.29G>A:p.Trp10Ter	coding	Pathogenic
19	11089578	G	A	G11089578A	LDLR	NM_000527.4(LDLR):c.30G>A:p.Trp10Ter	coding	Pathogenic
19	11089589	T	A	T11089589A	LDLR	NM_000527.4(LDLR):c.41T>A:p.Leu14Ter	coding	Pathogenic
19	11089616	G	A	G11089616A	LDLR	NM_000527.4(LDLR):c.67+1G>A	coding	Pathogenic
19	11089616	G	T	G11089616T	LDLR	NM_000527.4(LDLR):c.67+1G>T	coding	Pathogenic
19	11089617	T	A	T11089617A	LDLR	NM_000527.5(LDLR):c.67+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	11089633	C	A	C11089633A	LDLR	NM_000527.4(LDLR):c.67+18C>A	noncoding	Benign
19	11091630	G	T	G11091630T	LDLR	NM_000527.5(LDLR):c.67+2015G>T	noncoding	Benign
19	11100144	G	T	G11100144T	LDLR	NM_000527.4(LDLR):c.68-79G>T	noncoding	Benign
19	11100221	A	G	A11100221G	LDLR	NM_000527.5(LDLR):c.68-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	11100221	A	T	A11100221T	LDLR	NM_000527.5(LDLR):c.68-2A>T	noncoding	Pathogenic/Likely_pathogenic
19	11100222	G	A	G11100222A	LDLR	NM_000527.4(LDLR):c.68-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11100222	G	C	G11100222C	LDLR	NM_000527.5(LDLR):c.68-1G>C	noncoding	Pathogenic
19	11100231	A	T	A11100231T	LDLR	NM_000527.5(LDLR):c.76A>T:p.Arg26Ter	coding	Pathogenic
19	11100234	T	C	T11100234C	LDLR	NM_000527.4(LDLR):c.79T>C:p.Cys27Arg	coding	Pathogenic
19	11100236	C	A	C11100236A	LDLR	NM_000527.5(LDLR):c.81C>A:p.Cys27Ter	coding	Pathogenic
19	11100236	C	T	C11100236T	LDLR	NM_000527.5(LDLR):c.81C>T:p.Cys27=	coding	Benign
19	11100237	G	T	G11100237T	LDLR	NM_000527.5(LDLR):c.82G>T:p.Glu28Ter	coding	Pathogenic
19	11100240	A	T	A11100240T	LDLR	NM_000527.5(LDLR):c.85A>T:p.Arg29Ter	coding	Pathogenic
19	11100246	G	T	G11100246T	LDLR	NM_000527.5(LDLR):c.91G>T:p.Glu31Ter	coding	Pathogenic
19	11100252	C	T	C11100252T	LDLR	NM_000527.5(LDLR):c.97C>T:p.Gln33Ter	coding	Pathogenic
19	11100255	T	G	T11100255G	LDLR	NM_000527.5(LDLR):c.100T>G:p.Cys34Gly	coding	Pathogenic/Likely_pathogenic
19	11100257	C	A	C11100257A	LDLR	NM_000527.5(LDLR):c.102C>A:p.Cys34Ter	coding	Pathogenic
19	11100258	C	T	C11100258T	LDLR	NM_000527.5(LDLR):c.103C>T:p.Gln35Ter	coding	Pathogenic
19	11100270	T	C	T11100270C	LDLR	NM_000527.4(LDLR):c.115T>C:p.Cys39Arg	coding	Pathogenic
19	11100271	G	T	G11100271T	LDLR	NM_000527.4(LDLR):c.116G>T:p.Cys39Phe	coding	Pathogenic
19	11100278	C	T	C11100278T	LDLR	NM_000527.4(LDLR):c.123C>T:p.Ser41=	coding	Benign
19	11100281	C	A	C11100281A	LDLR	NM_000527.5(LDLR):c.126C>A:p.Tyr42Ter	coding	Pathogenic
19	11100281	C	G	C11100281G	LDLR	NM_000527.4(LDLR):c.126C>G:p.Tyr42Ter	coding	Pathogenic
19	11100286	G	A	G11100286A	LDLR	NM_000527.5(LDLR):c.131G>A:p.Trp44Ter	coding	Pathogenic/Likely_pathogenic
19	11100287	G	A	G11100287A	LDLR	NM_000527.4(LDLR):c.132G>A:p.Trp44Ter	coding	Pathogenic
19	11100291	T	G	T11100291G	LDLR	NM_000527.5(LDLR):c.136T>G:p.Cys46Gly	coding	Pathogenic/Likely_pathogenic
19	11100293	C	A	C11100293A	LDLR	NM_000527.5(LDLR):c.138C>A:p.Cys46Ter	coding	Pathogenic
19	11100294	G	C	G11100294C	LDLR	NM_000527.4(LDLR):c.139G>C:p.Asp47His	coding	Pathogenic
19	11100310	G	A	G11100310A	LDLR	NM_000527.5(LDLR):c.155G>A:p.Cys52Tyr	coding	Pathogenic/Likely_pathogenic
19	11100312	C	T	C11100312T	LDLR	NM_000527.5(LDLR):c.157C>T:p.Gln53Ter	coding	Pathogenic
19	11100320	C	G	C11100320G	LDLR	NM_000527.4(LDLR):c.165C>G:p.Gly55=	coding	Benign/Likely_benign
19	11100321	T	C	T11100321C	LDLR	NM_000527.5(LDLR):c.166T>C:p.Ser56Pro	coding	Pathogenic/Likely_pathogenic
19	11100327	G	T	G11100327T	LDLR	NM_000527.4(LDLR):c.172G>T:p.Glu58Ter	coding	Pathogenic
19	11100333	C	T	C11100333T	LDLR	NM_000527.4(LDLR):c.178C>T:p.Gln60Ter	coding	Pathogenic
19	11100342	T	C	T11100342C	LDLR	NM_000527.5(LDLR):c.187T>C:p.Cys63Arg	coding	Pathogenic/Likely_pathogenic
19	11100343	G	T	G11100343T	LDLR	NM_000527.4(LDLR):c.188G>T:p.Cys63Phe	coding	Pathogenic
19	11102614	C	T	C11102614T	LDLR	NM_000527.4(LDLR):c.191-50C>T	noncoding	Benign
19	11102662	A	G	A11102662G	LDLR	NM_000527.5(LDLR):c.191-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	11102663	G	A	G11102663A	LDLR	NM_000527.5(LDLR):c.191-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11102663	G	T	G11102663T	LDLR	NM_000527.4(LDLR):c.191-1G>T	noncoding	Pathogenic
19	11102664	T	A	T11102664A	LDLR	NM_000527.4(LDLR):c.191T>A:p.Leu64Ter	coding	Pathogenic
19	11102677	C	A	C11102677A	LDLR	NM_000527.5(LDLR):c.204C>A:p.Cys68Ter	coding	Pathogenic
19	11102696	T	A	T11102696A	LDLR	NM_000527.5(LDLR):c.223T>A:p.Cys75Ser	coding	Pathogenic/Likely_pathogenic
19	11102718	G	A	G11102718A	LDLR	NM_000527.5(LDLR):c.245G>A:p.Cys82Tyr	coding	Pathogenic/Likely_pathogenic
19	11102718	G	T	G11102718T	LDLR	NM_000527.5(LDLR):c.245G>T:p.Cys82Phe	coding	Pathogenic/Likely_pathogenic
19	11102719	C	A	C11102719A	LDLR	NM_000527.5(LDLR):c.246C>A:p.Cys82Ter	coding	Pathogenic
19	11102721	T	C	T11102721C	LDLR	NM_000527.4(LDLR):c.248T>C:p.Ile83Thr	coding	Pathogenic
19	11102726	C	T	C11102726T	LDLR	NM_000527.5(LDLR):c.253C>T:p.Gln85Ter	coding	Pathogenic
19	11102732	T	C	T11102732C	LDLR	NM_000527.4(LDLR):c.259T>C:p.Trp87Arg	coding	Pathogenic
19	11102732	T	G	T11102732G	LDLR	NM_000527.5(LDLR):c.259T>G:p.Trp87Gly	coding	Pathogenic/Likely_pathogenic
19	11102733	G	A	G11102733A	LDLR	NM_000527.5(LDLR):c.260G>A:p.Trp87Ter	coding	Pathogenic
19	11102734	G	A	G11102734A	LDLR	NM_000527.5(LDLR):c.261G>A:p.Trp87Ter	coding	Pathogenic
19	11102735	A	G	A11102735G	LDLR	NM_000527.4(LDLR):c.262A>G:p.Arg88Gly	coding	Pathogenic
19	11102736	G	A	G11102736A	LDLR	NM_000527.4(LDLR):c.263G>A:p.Arg88Lys	coding	Pathogenic
19	11102739	G	A	G11102739A	LDLR	NM_000527.5(LDLR):c.266G>A:p.Cys89Tyr	coding	Pathogenic/Likely_pathogenic
19	11102742	A	C	A11102742C	LDLR	NM_000527.4(LDLR):c.269A>C:p.Asp90Ala	coding	Pathogenic
19	11102742	A	G	A11102742G	LDLR	NM_000527.5(LDLR):c.269A>G:p.Asp90Gly	coding	Pathogenic/Likely_pathogenic
19	11102743	T	A	T11102743A	LDLR	NM_000527.5(LDLR):c.270T>A:p.Asp90Glu	coding	Pathogenic/Likely_pathogenic
19	11102747	C	T	C11102747T	LDLR	NM_000527.4(LDLR):c.274C>T:p.Gln92Ter	coding	Pathogenic
19	11102756	T	A	T11102756A	LDLR	NM_000527.5(LDLR):c.283T>A:p.Cys95Ser	coding	Pathogenic/Likely_pathogenic
19	11102757	G	T	G11102757T	LDLR	NM_000527.5(LDLR):c.284G>T:p.Cys95Phe	coding	Pathogenic/Likely_pathogenic
19	11102758	C	A	C11102758A	LDLR	NM_000527.5(LDLR):c.285C>A:p.Cys95Ter	coding	Pathogenic
19	11102764	C	T	C11102764T	LDLR	NM_000527.5(LDLR):c.291C>T:p.Asn97=	coding	Benign/Likely_benign
19	11102769	C	G	C11102769G	LDLR	NM_000527.5(LDLR):c.296C>G:p.Ser99Ter	coding	Pathogenic
19	11102773	C	G	C11102773G	LDLR	NM_000527.4(LDLR):c.300C>G:p.Asp100Glu	coding	Pathogenic
19	11102774	G	A	G11102774A	LDLR	NM_000527.5(LDLR):c.301G>A:p.Glu101Lys	coding	Pathogenic/Likely_pathogenic
19	11102774	G	T	G11102774T	LDLR	NM_000527.5(LDLR):c.301G>T:p.Glu101Ter	coding	Pathogenic
19	11102777	C	T	C11102777T	LDLR	NM_000527.5(LDLR):c.304C>T:p.Gln102Ter	coding	Pathogenic
19	11102784	G	A	G11102784A	LDLR	NM_000527.5(LDLR):c.311G>A:p.Cys104Tyr	coding	Pathogenic/Likely_pathogenic
19	11102784	G	C	G11102784C	LDLR	NM_000527.4(LDLR):c.311G>C:p.Cys104Ser	coding	Pathogenic
19	11102787	G	C	G11102787C	LDLR	NM_000527.5(LDLR):c.313+1G>C	coding	Pathogenic/Likely_pathogenic
19	11102787	G	T	G11102787T	LDLR	NM_000527.5(LDLR):c.313+1G>T	coding	Pathogenic/Likely_pathogenic
19	11102788	T	A	T11102788A	LDLR	NM_000527.5(LDLR):c.313+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	11102789	A	C	A11102789C	LDLR	NM_000527.4(LDLR):c.313+3A>C	noncoding	Pathogenic
19	11105170	T	C	T11105170C	LDLR	NM_000527.4(LDLR):c.314-50T>C	noncoding	Benign
19	11105218	A	C	A11105218C	LDLR	NM_000527.5(LDLR):c.314-2A>C	noncoding	Pathogenic/Likely_pathogenic
19	11105218	A	T	A11105218T	LDLR	NM_000527.4(LDLR):c.314-2A>T	noncoding	Pathogenic
19	11105219	G	A	G11105219A	LDLR	NM_000527.5(LDLR):c.314-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11105219	G	T	G11105219T	LDLR	NM_000527.4(LDLR):c.314-1G>T	noncoding	Pathogenic
19	11105230	G	C	G11105230C	LDLR	NM_000527.4(LDLR):c.324G>C:p.Thr108=	coding	Benign
19	11105231	T	C	T11105231C	LDLR	NM_000527.5(LDLR):c.325T>C:p.Cys109Arg	coding	Pathogenic/Likely_pathogenic
19	11105232	G	A	G11105232A	LDLR	NM_000527.5(LDLR):c.326G>A:p.Cys109Tyr	coding	Pathogenic/Likely_pathogenic
19	11105232	G	T	G11105232T	LDLR	NM_000527.5(LDLR):c.326G>T:p.Cys109Phe	coding	Pathogenic/Likely_pathogenic
19	11105233	C	A	C11105233A	LDLR	NM_000527.4(LDLR):c.327C>A:p.Cys109Ter	coding	Pathogenic
19	11105243	G	T	G11105243T	LDLR	NM_000527.5(LDLR):c.337G>T:p.Glu113Ter	coding	Pathogenic/Likely_pathogenic
19	11105251	C	G	C11105251G	LDLR	NM_000527.4(LDLR):c.345C>G:p.Arg115=	coding	Benign/Likely_benign
19	11105251	C	T	C11105251T	LDLR	NM_000527.4(LDLR):c.345C>T:p.Arg115=	coding	Benign
19	11105252	T	C	T11105252C	LDLR	NM_000527.5(LDLR):c.346T>C:p.Cys116Arg	coding	Pathogenic/Likely_pathogenic
19	11105267	T	C	T11105267C	LDLR	NM_000527.5(LDLR):c.361T>C:p.Cys121Arg	coding	Pathogenic/Likely_pathogenic
19	11105269	C	G	C11105269G	LDLR	NM_000527.4(LDLR):c.363C>G:p.Cys121Trp	coding	Pathogenic
19	11105279	C	T	C11105279T	LDLR	NM_000527.5(LDLR):c.373C>T:p.Gln125Ter	coding	Pathogenic
19	11105283	T	C	T11105283C	LDLR	NM_000527.4(LDLR):c.377T>C:p.Phe126Ser	coding	Pathogenic/Likely_pathogenic
19	11105284	C	T	C11105284T	LDLR	NM_000527.4(LDLR):c.378C>T:p.Phe126=	coding	Benign
19	11105286	T	G	T11105286G	LDLR	NM_000527.4(LDLR):c.380T>G:p.Val127Gly	coding	Pathogenic
19	11105288	T	C	T11105288C	LDLR	NM_000527.5(LDLR):c.382T>C:p.Cys128Arg	coding	Pathogenic/Likely_pathogenic
19	11105289	G	A	G11105289A	LDLR	NM_000527.4(LDLR):c.383G>A:p.Cys128Tyr	coding	Pathogenic/Likely_pathogenic
19	11105295	C	G	C11105295G	LDLR	NM_000527.5(LDLR):c.389C>G:p.Ser130Ter	coding	Pathogenic
19	11105306	T	C	T11105306C	LDLR	NM_000527.5(LDLR):c.400T>C:p.Cys134Arg	coding	Pathogenic/Likely_pathogenic
19	11105306	T	G	T11105306G	LDLR	NM_000527.4(LDLR):c.400T>G:p.Cys134Gly	coding	Pathogenic
19	11105307	G	T	G11105307T	LDLR	NM_000527.5(LDLR):c.401G>T:p.Cys134Phe	coding	Pathogenic/Likely_pathogenic
19	11105308	C	T	C11105308T	LDLR	NM_000527.4(LDLR):c.402C>T:p.Cys134=	coding	Benign
19	11105319	C	G	C11105319G	LDLR	NM_000527.5(LDLR):c.413C>G:p.Ser138Ter	coding	Pathogenic
19	11105322	A	G	A11105322G	LDLR	NM_000527.5(LDLR):c.416A>G:p.Asp139Gly	coding	Pathogenic/Likely_pathogenic
19	11105322	A	T	A11105322T	LDLR	NM_000527.5(LDLR):c.416A>T:p.Asp139Val	coding	Pathogenic/Likely_pathogenic
19	11105323	C	A	C11105323A	LDLR	NM_000527.4(LDLR):c.417C>A:p.Asp139Glu	coding	Pathogenic
19	11105324	G	A	G11105324A	LDLR	NM_000527.5(LDLR):c.418G>A:p.Glu140Lys	coding	Pathogenic/Likely_pathogenic
19	11105324	G	T	G11105324T	LDLR	NM_000527.5(LDLR):c.418G>T:p.Glu140Ter	coding	Pathogenic
19	11105325	A	G	A11105325G	LDLR	NM_000527.5(LDLR):c.419A>G:p.Glu140Gly	coding	Pathogenic/Likely_pathogenic
19	11105326	G	C	G11105326C	LDLR	NM_000527.5(LDLR):c.420G>C:p.Glu140Asp	coding	Pathogenic/Likely_pathogenic
19	11105326	G	T	G11105326T	LDLR	NM_000527.5(LDLR):c.420G>T:p.Glu140Asp	coding	Pathogenic/Likely_pathogenic
19	11105332	C	A	C11105332A	LDLR	NM_000527.4(LDLR):c.426C>A:p.Ser142=	coding	Benign
19	11105333	T	C	T11105333C	LDLR	NM_000527.5(LDLR):c.427T>C:p.Cys143Arg	coding	Pathogenic/Likely_pathogenic
19	11105334	G	A	G11105334A	LDLR	NM_000527.5(LDLR):c.428G>A:p.Cys143Tyr	coding	Pathogenic/Likely_pathogenic
19	11105334	G	C	G11105334C	LDLR	NM_000527.4(LDLR):c.428G>C:p.Cys143Ser	coding	Pathogenic/Likely_pathogenic
19	11105335	C	A	C11105335A	LDLR	NM_000527.5(LDLR):c.429C>A:p.Cys143Ter	coding	Pathogenic
19	11105337	C	T	C11105337T	LDLR	NM_000527.4(LDLR):c.431C>T:p.Pro144Leu	coding	Pathogenic
19	11105348	T	C	T11105348C	LDLR	NM_000527.5(LDLR):c.442T>C:p.Cys148Arg	coding	Pathogenic/Likely_pathogenic
19	11105349	G	A	G11105349A	LDLR	NM_000527.5(LDLR):c.443G>A:p.Cys148Tyr	coding	Pathogenic/Likely_pathogenic
19	11105349	G	C	G11105349C	LDLR	NM_000527.5(LDLR):c.443G>C:p.Cys148Ser	coding	Pathogenic/Likely_pathogenic
19	11105351	G	C	G11105351C	LDLR	NM_000527.4(LDLR):c.445G>C:p.Gly149Arg	coding	Pathogenic
19	11105353	T	C	T11105353C	LDLR	NM_000527.5(LDLR):c.447T>C:p.Gly149=	coding	Benign/Likely_benign
19	11105366	C	T	C11105366T	LDLR	NM_000527.5(LDLR):c.460C>T:p.Gln154Ter	coding	Pathogenic/Likely_pathogenic
19	11105369	T	C	T11105369C	LDLR	NM_000527.5(LDLR):c.463T>C:p.Cys155Arg	coding	Pathogenic/Likely_pathogenic
19	11105369	T	G	T11105369G	LDLR	NM_000527.5(LDLR):c.463T>G:p.Cys155Gly	coding	Pathogenic/Likely_pathogenic
19	11105370	G	A	G11105370A	LDLR	NM_000527.5(LDLR):c.464G>A:p.Cys155Tyr	coding	Pathogenic/Likely_pathogenic
19	11105371	C	A	C11105371A	LDLR	NM_000527.5(LDLR):c.465C>A:p.Cys155Ter	coding	Pathogenic
19	11105384	T	C	T11105384C	LDLR	NM_000527.5(LDLR):c.478T>C:p.Cys160Arg	coding	Pathogenic/Likely_pathogenic
19	11105388	T	C	T11105388C	LDLR	NM_000527.4(LDLR):c.482T>C:p.Ile161Thr	coding	Pathogenic
19	11105393	C	T	C11105393T	LDLR	NM_001195800.2(LDLR):c.314-1999C>T	coding	Pathogenic
19	11105401	G	A	G11105401A	LDLR	NM_000527.5(LDLR):c.495G>A:p.Trp165Ter	coding	Pathogenic
19	11105405	T	C	T11105405C	LDLR	NM_000527.5(LDLR):c.499T>C:p.Cys167Arg	coding	Pathogenic/Likely_pathogenic
19	11105407	C	A	C11105407A	LDLR	NM_000527.5(LDLR):c.501C>A:p.Cys167Ter	coding	Pathogenic/Likely_pathogenic
19	11105407	C	G	C11105407G	LDLR	NM_000527.5(LDLR):c.501C>G:p.Cys167Trp	coding	Pathogenic/Likely_pathogenic
19	11105408	G	A	G11105408A	LDLR	NM_000527.5(LDLR):c.502G>A:p.Asp168Asn	coding	Pathogenic/Likely_pathogenic
19	11105408	G	C	G11105408C	LDLR	NM_000527.5(LDLR):c.502G>C:p.Asp168His	coding	Pathogenic/Likely_pathogenic
19	11105420	G	A	G11105420A	LDLR	NM_000527.5(LDLR):c.514G>A:p.Asp172Asn	coding	Pathogenic/Likely_pathogenic
19	11105420	G	T	G11105420T	LDLR	NM_000527.5(LDLR):c.514G>T:p.Asp172Tyr	coding	Pathogenic/Likely_pathogenic
19	11105423	T	C	T11105423C	LDLR	NM_000527.5(LDLR):c.517T>C:p.Cys173Arg	coding	Pathogenic/Likely_pathogenic
19	11105424	G	C	G11105424C	LDLR	NM_000527.5(LDLR):c.518G>C:p.Cys173Ser	coding	Pathogenic
19	11105425	C	A	C11105425A	LDLR	NM_000527.5(LDLR):c.519C>A:p.Cys173Ter	coding	Pathogenic/Likely_pathogenic
19	11105425	C	G	C11105425G	LDLR	NM_000527.5(LDLR):c.519C>G:p.Cys173Trp	coding	Pathogenic/Likely_pathogenic
19	11105429	G	A	G11105429A	LDLR	NM_000527.5(LDLR):c.523G>A:p.Asp175Asn	coding	Pathogenic/Likely_pathogenic
19	11105436	C	T	C11105436T	LDLR	NM_000527.5(LDLR):c.530C>T:p.Ser177Leu	coding	Pathogenic/Likely_pathogenic
19	11105438	G	C	G11105438C	LDLR	NM_000527.5(LDLR):c.532G>C:p.Asp178His	coding	Pathogenic/Likely_pathogenic
19	11105439	A	G	A11105439G	LDLR	NM_000527.5(LDLR):c.533A>G:p.Asp178Gly	coding	Pathogenic/Likely_pathogenic
19	11105440	T	G	T11105440G	LDLR	NM_000527.5(LDLR):c.534T>G:p.Asp178Glu	coding	Pathogenic/Likely_pathogenic
19	11105441	G	T	G11105441T	LDLR	NM_000527.5(LDLR):c.535G>T:p.Glu179Ter	coding	Pathogenic
19	11105445	G	A	G11105445A	LDLR	NM_000527.5(LDLR):c.539G>A:p.Trp180Ter	coding	Pathogenic/Likely_pathogenic
19	11105450	C	T	C11105450T	LDLR	NM_000527.5(LDLR):c.544C>T:p.Gln182Ter	coding	Pathogenic
19	11105454	G	A	G11105454A	LDLR	NM_000527.4(LDLR):c.548G>A:p.Arg183His	coding	Benign
19	11105456	T	C	T11105456C	LDLR	NM_000527.5(LDLR):c.550T>C:p.Cys184Arg	coding	Pathogenic/Likely_pathogenic
19	11105457	G	A	G11105457A	LDLR	NM_000527.5(LDLR):c.551G>A:p.Cys184Tyr	coding	Pathogenic/Likely_pathogenic
19	11105470	C	A	C11105470A	LDLR	NM_000527.5(LDLR):c.564C>A:p.Tyr188Ter	coding	Pathogenic
19	11105470	C	G	C11105470G	LDLR	NM_000527.5(LDLR):c.564C>G:p.Tyr188Ter	coding	Pathogenic/Likely_pathogenic
19	11105477	C	T	C11105477T	LDLR	NM_000527.5(LDLR):c.571C>T:p.Gln191Ter	coding	Pathogenic
19	11105492	C	A	C11105492A	LDLR	NM_000527.4(LDLR):c.586C>A:p.Pro196Thr	coding	Pathogenic
19	11105495	T	G	T11105495G	LDLR	NM_000527.5(LDLR):c.589T>G:p.Cys197Gly	coding	Pathogenic/Likely_pathogenic
19	11105496	G	A	G11105496A	LDLR	NM_000527.5(LDLR):c.590G>A:p.Cys197Tyr	coding	Pathogenic/Likely_pathogenic
19	11105496	G	T	G11105496T	LDLR	NM_000527.5(LDLR):c.590G>T:p.Cys197Phe	coding	Pathogenic/Likely_pathogenic
19	11105497	C	A	C11105497A	LDLR	NM_000527.5(LDLR):c.591C>A:p.Cys197Ter	coding	Pathogenic
19	11105499	C	A	C11105499A	LDLR	NM_000527.5(LDLR):c.593C>A:p.Ser198Ter	coding	Pathogenic
19	11105518	C	A	C11105518A	LDLR	NM_000527.4(LDLR):c.612C>A:p.Cys204Ter	coding	Pathogenic
19	11105524	T	G	T11105524G	LDLR	NM_000527.5(LDLR):c.618T>G:p.Ser206Arg	coding	Pathogenic/Likely_pathogenic
19	11105527	C	T	C11105527T	LDLR	NM_000527.5(LDLR):c.621C>T:p.Gly207=	coding	Pathogenic/Likely_pathogenic
19	11105528	G	A	G11105528A	LDLR	NM_000527.5(LDLR):c.622G>A:p.Glu208Lys	coding	Pathogenic/Likely_pathogenic
19	11105528	G	T	G11105528T	LDLR	NM_000527.5(LDLR):c.622G>T:p.Glu208Ter	coding	Pathogenic/Likely_pathogenic
19	11105532	G	A	G11105532A	LDLR	NM_000527.5(LDLR):c.626G>A:p.Cys209Tyr	coding	Pathogenic/Likely_pathogenic
19	11105534	A	C	A11105534C	LDLR	NM_000527.4(LDLR):c.628A>C:p.Ile210Leu	coding	Pathogenic
19	11105547	G	A	G11105547A	LDLR	NM_000527.5(LDLR):c.641G>A:p.Trp214Ter	coding	Pathogenic
19	11105548	G	A	G11105548A	LDLR	NM_000527.5(LDLR):c.642G>A:p.Trp214Ter	coding	Pathogenic
19	11105550	G	A	G11105550A	LDLR	NM_000527.4(LDLR):c.644G>A:p.Arg215His	coding	Pathogenic
19	11105567	G	A	G11105567A	LDLR	NM_000527.5(LDLR):c.661G>A:p.Asp221Asn	coding	Pathogenic/Likely_pathogenic
19	11105567	G	T	G11105567T	LDLR	NM_000527.5(LDLR):c.661G>T:p.Asp221Tyr	coding	Pathogenic/Likely_pathogenic
19	11105568	A	G	A11105568G	LDLR	NM_000527.5(LDLR):c.662A>G:p.Asp221Gly	coding	Pathogenic/Likely_pathogenic
19	11105571	G	T	G11105571T	LDLR	NM_000527.5(LDLR):c.665G>T:p.Cys222Phe	coding	Pathogenic/Likely_pathogenic
19	11105572	C	A	C11105572A	LDLR	NM_000527.5(LDLR):c.666C>A:p.Cys222Ter	coding	Pathogenic
19	11105576	G	A	G11105576A	LDLR	NM_000527.5(LDLR):c.670G>A:p.Asp224Asn	coding	Pathogenic/Likely_pathogenic
19	11105577	A	G	A11105577G	LDLR	NM_000527.5(LDLR):c.671A>G:p.Asp224Gly	coding	Pathogenic/Likely_pathogenic
19	11105582	T	C	T11105582C	LDLR	NM_000527.5(LDLR):c.676T>C:p.Ser226Pro	coding	Pathogenic/Likely_pathogenic
19	11105586	A	T	A11105586T	LDLR	NM_000527.5(LDLR):c.680A>T:p.Asp227Val	coding	Pathogenic/Likely_pathogenic
19	11105587	C	A	C11105587A	LDLR	NM_000527.4(LDLR):c.681C>A:p.Asp227Glu	coding	Pathogenic
19	11105587	C	G	C11105587G	LDLR	NM_000527.5(LDLR):c.681C>G:p.Asp227Glu	coding	Pathogenic/Likely_pathogenic
19	11105588	G	A	G11105588A	LDLR	NM_000527.5(LDLR):c.682G>A:p.Glu228Lys	coding	Pathogenic/Likely_pathogenic
19	11105588	G	C	G11105588C	LDLR	NM_000527.5(LDLR):c.682G>C:p.Glu228Gln	coding	Pathogenic/Likely_pathogenic
19	11105588	G	T	G11105588T	LDLR	NM_000527.5(LDLR):c.682G>T:p.Glu228Ter	coding	Pathogenic/Likely_pathogenic
19	11105589	A	C	A11105589C	LDLR	NM_000527.5(LDLR):c.683A>C:p.Glu228Ala	coding	Pathogenic/Likely_pathogenic
19	11105589	A	G	A11105589G	LDLR	NM_000527.4(LDLR):c.683A>G:p.Glu228Gly	coding	Pathogenic/Likely_pathogenic
19	11105590	G	T	G11105590T	LDLR	NM_000527.5(LDLR):c.684G>T:p.Glu228Asp	coding	Pathogenic
19	11105597	T	C	T11105597C	LDLR	NM_000527.5(LDLR):c.691T>C:p.Cys231Arg	coding	Pathogenic/Likely_pathogenic
19	11105599	C	A	C11105599A	LDLR	NM_000527.5(LDLR):c.693C>A:p.Cys231Ter	coding	Pathogenic/Likely_pathogenic
19	11105601	G	A	G11105601A	LDLR	NM_000527.5(LDLR):c.694+1G>A	coding	Pathogenic/Likely_pathogenic
19	11105601	G	C	G11105601C	LDLR	NM_000527.4(LDLR):c.694+1G>C	coding	Pathogenic
19	11105602	T	C	T11105602C	LDLR	NM_000527.4(LDLR):c.694+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11105609	G	A	G11105609A	LDLR	NM_000527.4(LDLR):c.694+9G>A	noncoding	Benign/Likely_benign
19	11106564	G	A	G11106564A	LDLR	NM_000527.4(LDLR):c.695-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11106564	G	T	G11106564T	LDLR	NM_000527.5(LDLR):c.695-1G>T	noncoding	Pathogenic/Likely_pathogenic
19	11106588	G	T	G11106588T	LDLR	NM_000527.5(LDLR):c.718G>T:p.Glu240Ter	coding	Pathogenic
19	11106592	T	G	T11106592G	LDLR	NM_000527.4(LDLR):c.722T>G:p.Phe241Cys	coding	Pathogenic
19	11106594	C	T	C11106594T	LDLR	NM_000527.5(LDLR):c.724C>T:p.Gln242Ter	coding	Pathogenic
19	11106607	G	T	G11106607T	LDLR	NM_000527.4(LDLR):c.737G>T:p.Gly246Val	coding	Pathogenic
19	11106608	A	G	A11106608G	LDLR	NM_000527.4(LDLR):c.738A>G:p.Gly246=	coding	Benign
19	11106613	G	T	G11106613T	LDLR	NM_000527.5(LDLR):c.743G>T:p.Cys248Phe	coding	Pathogenic/Likely_pathogenic
19	11106614	C	A	C11106614A	LDLR	NM_000527.5(LDLR):c.744C>A:p.Cys248Ter	coding	Pathogenic
19	11106630	C	T	C11106630T	LDLR	NM_000527.5(LDLR):c.760C>T:p.Gln254Ter	coding	Pathogenic
19	11106631	A	C	A11106631C	LDLR	NM_000527.5(LDLR):c.761A>C:p.Gln254Pro	coding	Pathogenic/Likely_pathogenic
19	11106637	A	G	A11106637G	LDLR	NM_000527.5(LDLR):c.767A>G:p.Asp256Gly	coding	Pathogenic/Likely_pathogenic
19	11106640	G	C	G11106640C	LDLR	NM_000527.4(LDLR):c.770G>C:p.Arg257Pro	coding	Pathogenic
19	11106642	G	T	G11106642T	LDLR	NM_000527.5(LDLR):c.772G>T:p.Glu258Ter	coding	Pathogenic
19	11106653	C	A	C11106653A	LDLR	NM_000527.4(LDLR):c.783C>A:p.Cys261Ter	coding	Pathogenic
19	11106653	C	T	C11106653T	LDLR	NM_000527.5(LDLR):c.783C>T:p.Cys261=	coding	Benign
19	11106666	G	A	G11106666A	LDLR	NM_000527.5(LDLR):c.796G>A:p.Asp266Asn	coding	Pathogenic/Likely_pathogenic
19	11106675	G	A	G11106675A	LDLR	NM_000527.4(LDLR):c.805G>A:p.Gly269Ser	coding	Pathogenic
19	11106680	C	A	C11106680A	LDLR	NM_000527.5(LDLR):c.810C>A:p.Cys270Ter	coding	Pathogenic
19	11106688	G	A	G11106688A	LDLR	NM_000527.5(LDLR):c.817+1G>A	coding	Pathogenic/Likely_pathogenic
19	11106688	G	T	G11106688T	LDLR	NM_000527.4(LDLR):c.817+1G>T	coding	Pathogenic
19	11106689	T	G	T11106689G	LDLR	NM_000527.4(LDLR):c.817+2T>G	noncoding	Pathogenic
19	11107390	A	G	A11107390G	LDLR	NM_000527.5(LDLR):c.818-2A>G	noncoding	Pathogenic
19	11107391	G	A	G11107391A	LDLR	NM_000527.5(LDLR):c.818-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11107393	G	A	G11107393A	LDLR	NM_000527.4(LDLR):c.819G>A:p.Val273=	coding	Benign
19	11107402	C	G	C11107402G	LDLR	NM_000527.5(LDLR):c.828C>G:p.Cys276Trp	coding	Pathogenic/Likely_pathogenic
19	11107402	C	T	C11107402T	LDLR	NM_000527.4(LDLR):c.828C>T:p.Cys276=	coding	Benign/Likely_benign
19	11107403	G	T	G11107403T	LDLR	NM_000527.4(LDLR):c.829G>T:p.Glu277Ter	coding	Pathogenic
19	11107406	G	T	G11107406T	LDLR	NM_000527.4(LDLR):c.832G>T:p.Gly278Ter	coding	Pathogenic
19	11107433	G	T	G11107433T	LDLR	NM_000527.5(LDLR):c.859G>T:p.Gly287Cys	coding	Pathogenic/Likely_pathogenic
19	11107436	G	T	G11107436T	LDLR	NM_000527.5(LDLR):c.862G>T:p.Glu288Ter	coding	Pathogenic
19	11107460	T	C	T11107460C	LDLR	NM_000527.4(LDLR):c.886T>C:p.Cys296Arg	coding	Pathogenic
19	11107462	C	A	C11107462A	LDLR	NM_000527.5(LDLR):c.888C>A:p.Cys296Ter	coding	Pathogenic
19	11107472	A	T	A11107472T	LDLR	NM_000527.5(LDLR):c.898A>T:p.Arg300Ter	coding	Pathogenic
19	11107476	A	G	A11107476G	LDLR	NM_000527.5(LDLR):c.902A>G:p.Asp301Gly	coding	Pathogenic/Likely_pathogenic
19	11107478	T	C	T11107478C	LDLR	NM_000527.4(LDLR):c.904T>C:p.Cys302Arg	coding	Pathogenic
19	11107479	G	T	G11107479T	LDLR	NM_000527.4(LDLR):c.905G>T:p.Cys302Phe	coding	Pathogenic
19	11107484	G	A	G11107484A	LDLR	NM_000527.5(LDLR):c.910G>A:p.Asp304Asn	coding	Pathogenic/Likely_pathogenic
19	11107484	G	T	G11107484T	LDLR	NM_000527.5(LDLR):c.910G>T:p.Asp304Tyr	coding	Pathogenic/Likely_pathogenic
19	11107485	A	T	A11107485T	LDLR	NM_000527.4(LDLR):c.911A>T:p.Asp304Val	coding	Pathogenic
19	11107486	C	G	C11107486G	LDLR	NM_000527.5(LDLR):c.912C>G:p.Asp304Glu	coding	Pathogenic/Likely_pathogenic
19	11107488	G	A	G11107488A	LDLR	NM_000527.5(LDLR):c.914G>A:p.Trp305Ter	coding	Pathogenic
19	11107489	G	A	G11107489A	LDLR	NM_000527.5(LDLR):c.915G>A:p.Trp305Ter	coding	Pathogenic
19	11107491	C	A	C11107491A	LDLR	NM_000527.5(LDLR):c.917C>A:p.Ser306Ter	coding	Pathogenic
19	11107491	C	G	C11107491G	LDLR	NM_000527.5(LDLR):c.917C>G:p.Ser306Ter	coding	Pathogenic
19	11107491	C	T	C11107491T	LDLR	NM_000527.5(LDLR):c.917C>T:p.Ser306Leu	coding	Pathogenic/Likely_pathogenic
19	11107495	T	G	T11107495G	LDLR	NM_000527.5(LDLR):c.921T>G:p.Asp307Glu	coding	Pathogenic/Likely_pathogenic
19	11107496	G	T	G11107496T	LDLR	NM_000527.4(LDLR):c.922G>T:p.Glu308Ter	coding	Pathogenic
19	11107500	C	A	C11107500A	LDLR	NM_000527.5(LDLR):c.926C>A:p.Pro309His	coding	Pathogenic
19	11107508	G	T	G11107508T	LDLR	NM_000527.5(LDLR):c.934G>T:p.Glu312Ter	coding	Pathogenic
19	11107512	G	A	G11107512A	LDLR	NM_000527.5(LDLR):c.938G>A:p.Cys313Tyr	coding	Pathogenic/Likely_pathogenic
19	11107513	C	A	C11107513A	LDLR	NM_000527.5(LDLR):c.939C>A:p.Cys313Ter	coding	Pathogenic
19	11107515	G	C	G11107515C	LDLR	NM_000527.5(LDLR):c.940+1G>C	coding	Pathogenic/Likely_pathogenic
19	11107515	G	T	G11107515T	LDLR	NM_000527.4(LDLR):c.940+1G>T	coding	Pathogenic
19	11107516	T	A	T11107516A	LDLR	NM_000527.5(LDLR):c.940+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	11107516	T	C	T11107516C	LDLR	NM_000527.5(LDLR):c.940+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11107516	T	G	T11107516G	LDLR	NM_000527.4(LDLR):c.940+2T>G	noncoding	Pathogenic
19	11107550	G	A	G11107550A	LDLR	NM_000527.4(LDLR):c.940+36G>A	noncoding	Benign
19	11110650	A	G	A11110650G	LDLR	NM_000527.5(LDLR):c.941-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	11110651	G	A	G11110651A	LDLR	NM_000527.5(LDLR):c.941-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11110660	G	T	G11110660T	LDLR	NM_000527.5(LDLR):c.949G>T:p.Glu317Ter	coding	Pathogenic
19	11110663	T	C	T11110663C	LDLR	NM_000527.5(LDLR):c.952T>C:p.Cys318Arg	coding	Pathogenic/Likely_pathogenic
19	11110664	G	T	G11110664T	LDLR	NM_000527.5(LDLR):c.953G>T:p.Cys318Phe	coding	Pathogenic/Likely_pathogenic
19	11110665	C	A	C11110665A	LDLR	NM_000527.4(LDLR):c.954C>A:p.Cys318Ter	coding	Pathogenic
19	11110676	A	T	A11110676T	LDLR	NM_000527.5(LDLR):c.965A>T:p.Asn322Ile	coding	Pathogenic/Likely_pathogenic
19	11110678	G	T	G11110678T	LDLR	NM_000527.4(LDLR):c.967G>T:p.Gly323Cys	coding	Pathogenic
19	11110685	G	A	G11110685A	LDLR	NM_000527.5(LDLR):c.974G>A:p.Cys325Tyr	coding	Pathogenic/Likely_pathogenic
19	11110696	T	G	T11110696G	LDLR	NM_000527.5(LDLR):c.985T>G:p.Cys329Gly	coding	Pathogenic/Likely_pathogenic
19	11110698	C	A	C11110698A	LDLR	NM_000527.4(LDLR):c.987C>A:p.Cys329Ter	coding	Pathogenic
19	11110704	C	T	C11110704T	LDLR	NM_000527.4(LDLR):c.993C>T:p.Asp331=	coding	Benign/Likely_benign
19	11110713	C	T	C11110713T	LDLR	NM_000527.4(LDLR):c.1002C>T:p.Ile334=	coding	Benign/Likely_benign
19	11110718	A	G	A11110718G	LDLR	NM_000527.5(LDLR):c.1007A>G:p.Tyr336Cys	coding	Pathogenic/Likely_pathogenic
19	11110719	C	A	C11110719A	LDLR	NM_000527.5(LDLR):c.1008C>A:p.Tyr336Ter	coding	Pathogenic
19	11110723	T	A	T11110723A	LDLR	NM_000527.5(LDLR):c.1012T>A:p.Cys338Ser	coding	Pathogenic/Likely_pathogenic
19	11110723	T	G	T11110723G	LDLR	NM_000527.5(LDLR):c.1012T>G:p.Cys338Gly	coding	Pathogenic/Likely_pathogenic
19	11110724	G	A	G11110724A	LDLR	NM_000527.5(LDLR):c.1013G>A:p.Cys338Tyr	coding	Pathogenic/Likely_pathogenic
19	11110724	G	C	G11110724C	LDLR	NM_000527.5(LDLR):c.1013G>C:p.Cys338Ser	coding	Pathogenic
19	11110725	C	A	C11110725A	LDLR	NM_000527.5(LDLR):c.1014C>A:p.Cys338Ter	coding	Pathogenic
19	11110725	C	G	C11110725G	LDLR	NM_000527.5(LDLR):c.1014C>G:p.Cys338Trp	coding	Pathogenic
19	11110731	C	G	C11110731G	LDLR	NM_000527.5(LDLR):c.1020C>G:p.Cys340Trp	coding	Pathogenic/Likely_pathogenic
19	11110739	G	A	G11110739A	LDLR	NM_000527.5(LDLR):c.1028G>A:p.Gly343Asp	coding	Pathogenic/Likely_pathogenic
19	11110739	G	T	G11110739T	LDLR	NM_000527.4(LDLR):c.1028G>T:p.Gly343Val	coding	Pathogenic
19	11110744	C	T	C11110744T	LDLR	NM_000527.5(LDLR):c.1033C>T:p.Gln345Ter	coding	Pathogenic
19	11110759	C	T	C11110759T	LDLR	NM_000527.5(LDLR):c.1048C>T:p.Arg350Ter	coding	Pathogenic
19	11110760	G	A	G11110760A	LDLR	NM_000527.5(LDLR):c.1049G>A:p.Arg350Gln	coding	Pathogenic
19	11110761	A	C	A11110761C	LDLR	NM_000527.4(LDLR):c.1050A>C:p.Arg350=	coding	Benign
19	11110766	G	A	G11110766A	LDLR	NM_000527.5(LDLR):c.1055G>A:p.Cys352Tyr	coding	Pathogenic/Likely_pathogenic
19	11110767	C	A	C11110767A	LDLR	NM_000527.5(LDLR):c.1056C>A:p.Cys352Ter	coding	Pathogenic/Likely_pathogenic
19	11110767	C	G	C11110767G	LDLR	NM_000527.5(LDLR):c.1056C>G:p.Cys352Trp	coding	Pathogenic/Likely_pathogenic
19	11110768	G	T	G11110768T	LDLR	NM_000527.4(LDLR):c.1057G>T:p.Glu353Ter	coding	Pathogenic
19	11110772	G	A	G11110772A	LDLR	NM_000527.5(LDLR):c.1060+1G>A	coding	Pathogenic
19	11110781	G	C	G11110781C	LDLR	NM_000527.5(LDLR):c.1060+10G>C	noncoding	Benign/Likely_benign
19	11110880	T	G	T11110880G	LDLR	NM_000527.4(LDLR):c.1060+109T>G	noncoding	Benign
19	11111506	T	A	T11111506A	LDLR	NM_000527.4(LDLR):c.1061-8T>A	noncoding	Benign
19	11111513	G	A	G11111513A	LDLR	NM_000527.5(LDLR):c.1061-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11111513	G	C	G11111513C	LDLR	NM_000527.5(LDLR):c.1061-1G>C	noncoding	Pathogenic/Likely_pathogenic
19	11111514	A	G	A11111514G	LDLR	NM_000527.5(LDLR):c.1061A>G:p.Asp354Gly	coding	Pathogenic/Likely_pathogenic
19	11111514	A	T	A11111514T	LDLR	NM_000527.5(LDLR):c.1061A>T:p.Asp354Val	coding	Pathogenic/Likely_pathogenic
19	11111528	C	T	C11111528T	LDLR	NM_000527.5(LDLR):c.1075C>T:p.Gln359Ter	coding	Pathogenic
19	11111534	C	T	C11111534T	LDLR	NM_000527.4(LDLR):c.1081C>T:p.Pro361Ser	coding	Pathogenic
19	11111545	C	A	C11111545A	LDLR	NM_000527.4(LDLR):c.1092C>A:p.Cys364Ter	coding	Pathogenic
19	11111545	C	T	C11111545T	LDLR	NM_000527.4(LDLR):c.1092C>T:p.Cys364=	coding	Benign
19	11111549	C	T	C11111549T	LDLR	NM_000527.5(LDLR):c.1096C>T:p.Gln366Ter	coding	Pathogenic
19	11111550	A	G	A11111550G	LDLR	NM_000527.5(LDLR):c.1097A>G:p.Gln366Arg	coding	Pathogenic/Likely_pathogenic
19	11111555	T	C	T11111555C	LDLR	NM_000527.4(LDLR):c.1102T>C:p.Cys368Arg	coding	Pathogenic/Likely_pathogenic
19	11111557	C	A	C11111557A	LDLR	NM_000527.5(LDLR):c.1104C>A:p.Cys368Ter	coding	Pathogenic
19	11111562	A	C	A11111562C	LDLR	NM_000527.5(LDLR):c.1109A>C:p.Asn370Thr	coding	Pathogenic/Likely_pathogenic
19	11111567	G	T	G11111567T	LDLR	NM_000527.4(LDLR):c.1114G>T:p.Glu372Ter	coding	Pathogenic
19	11111571	G	A	G11111571A	LDLR	NM_000527.5(LDLR):c.1118G>A:p.Gly373Asp	coding	Pathogenic/Likely_pathogenic
19	11111577	A	G	A11111577G	LDLR	NM_000527.5(LDLR):c.1124A>G:p.Tyr375Cys	coding	Pathogenic/Likely_pathogenic
19	11111583	G	A	G11111583A	LDLR	NM_000527.5(LDLR):c.1130G>A:p.Cys377Tyr	coding	Pathogenic/Likely_pathogenic
19	11111585	C	T	C11111585T	LDLR	NM_000527.5(LDLR):c.1132C>T:p.Gln378Ter	coding	Pathogenic
19	11111588	T	C	T11111588C	LDLR	NM_000527.5(LDLR):c.1135T>C:p.Cys379Arg	coding	Pathogenic/Likely_pathogenic
19	11111589	G	A	G11111589A	LDLR	NM_000527.5(LDLR):c.1136G>A:p.Cys379Tyr	coding	Pathogenic/Likely_pathogenic
19	11111603	C	T	C11111603T	LDLR	NM_000527.5(LDLR):c.1150C>T:p.Gln384Ter	coding	Pathogenic
19	11111607	T	C	T11111607C	LDLR	NM_000527.4(LDLR):c.1154T>C:p.Leu385Pro	coding	Pathogenic
19	11111621	A	T	A11111621T	LDLR	NM_000527.5(LDLR):c.1168A>T:p.Lys390Ter	coding	Pathogenic
19	11111624	G	A	G11111624A	LDLR	NM_000527.5(LDLR):c.1171G>A:p.Ala391Thr	coding	Benign/Likely_benign
19	11111627	T	C	T11111627C	LDLR	NM_000527.5(LDLR):c.1174T>C:p.Cys392Arg	coding	Pathogenic/Likely_pathogenic
19	11111629	C	A	C11111629A	LDLR	NM_000527.5(LDLR):c.1176C>A:p.Cys392Ter	coding	Pathogenic/Likely_pathogenic
19	11111639	G	C	G11111639C	LDLR	NM_000527.5(LDLR):c.1186G>C:p.Gly396Arg	coding	Pathogenic
19	11111640	G	A	G11111640A	LDLR	NM_000527.5(LDLR):c.1186+1G>A	coding	Pathogenic/Likely_pathogenic
19	11111640	G	T	G11111640T	LDLR	NM_000527.4(LDLR):c.1186+1G>T	coding	Pathogenic
19	11111745	G	A	G11111745A	LDLR	NM_000527.4(LDLR):c.1186+106G>A	noncoding	Benign
19	11113230	A	G	A11113230G	LDLR	NM_000527.4(LDLR):c.1187-48A>G	noncoding	Benign
19	11113268	G	A	G11113268A	LDLR	NM_000527.5(LDLR):c.1187-10G>A	noncoding	Pathogenic/Likely_pathogenic
19	11113269	G	C	G11113269C	LDLR	NM_000527.4(LDLR):c.1187-9G>C	noncoding	Benign
19	11113276	A	G	A11113276G	LDLR	NM_000527.5(LDLR):c.1187-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	11113277	G	A	G11113277A	LDLR	NM_000527.5(LDLR):c.1187-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11113278	G	A	G11113278A	LDLR	NM_000527.4(LDLR):c.1187G>A:p.Gly396Asp	coding	Pathogenic
19	11113286	G	T	G11113286T	LDLR	NM_000527.4(LDLR):c.1195G>T:p.Ala399Ser	coding	Pathogenic
19	11113291	C	A	C11113291A	LDLR	NM_000527.5(LDLR):c.1200C>A:p.Tyr400Ter	coding	Pathogenic
19	11113293	T	A	T11113293A	LDLR	NM_000527.5(LDLR):c.1202T>A:p.Leu401His	coding	Pathogenic/Likely_pathogenic
19	11113300	C	A	C11113300A	LDLR	NM_000527.4(LDLR):c.1209C>A:p.Phe403Leu	coding	Pathogenic
19	11113302	C	T	C11113302T	LDLR	NM_000527.5(LDLR):c.1211C>T:p.Thr404Ile	coding	Pathogenic/Likely_pathogenic
19	11113306	C	G	C11113306G	LDLR	NM_000527.5(LDLR):c.1215C>G:p.Asn405Lys	coding	Pathogenic/Likely_pathogenic
19	11113307	C	A	C11113307A	LDLR	NM_000527.5(LDLR):c.1216C>A:p.Arg406=	coding	Pathogenic/Likely_pathogenic
19	11113307	C	T	C11113307T	LDLR	NM_000527.5(LDLR):c.1216C>T:p.Arg406Trp	coding	Pathogenic/Likely_pathogenic
19	11113313	G	A	G11113313A	LDLR	NM_000527.5(LDLR):c.1222G>A:p.Glu408Lys	coding	Pathogenic/Likely_pathogenic
19	11113314	A	T	A11113314T	LDLR	NM_000527.5(LDLR):c.1223A>T:p.Glu408Val	coding	Pathogenic/Likely_pathogenic
19	11113325	A	C	A11113325C	LDLR	NM_000527.4(LDLR):c.1234A>C:p.Met412Leu	coding	Pathogenic
19	11113326	T	C	T11113326C	LDLR	NM_000527.5(LDLR):c.1235T>C:p.Met412Thr	coding	Pathogenic/Likely_pathogenic
19	11113332	T	G	T11113332G	LDLR	NM_000527.5(LDLR):c.1241T>G:p.Leu414Arg	coding	Pathogenic/Likely_pathogenic
19	11113334	G	C	G11113334C	LDLR	NM_000527.5(LDLR):c.1243G>C:p.Asp415His	coding	Pathogenic/Likely_pathogenic
19	11113337	C	T	C11113337T	LDLR	NM_000527.5(LDLR):c.1246C>T:p.Arg416Trp	coding	Pathogenic/Likely_pathogenic
19	11113343	G	T	G11113343T	LDLR	NM_000527.5(LDLR):c.1252G>T:p.Glu418Ter	coding	Pathogenic
19	11113348	C	A	C11113348A	LDLR	NM_000527.5(LDLR):c.1257C>A:p.Tyr419Ter	coding	Pathogenic
19	11113348	C	G	C11113348G	LDLR	NM_000527.5(LDLR):c.1257C>G:p.Tyr419Ter	coding	Pathogenic
19	11113359	T	C	T11113359C	LDLR	NM_000527.5(LDLR):c.1268T>C:p.Ile423Thr	coding	Pathogenic/Likely_pathogenic
19	11113376	G	A	G11113376A	LDLR	NM_000527.5(LDLR):c.1285G>A:p.Val429Met	coding	Pathogenic/Likely_pathogenic
19	11113376	G	C	G11113376C	LDLR	NM_000527.5(LDLR):c.1285G>C:p.Val429Leu	coding	Pathogenic/Likely_pathogenic
19	11113382	G	A	G11113382A	LDLR	NM_000527.5(LDLR):c.1291G>A:p.Ala431Thr	coding	Pathogenic/Likely_pathogenic
19	11113388	G	C	G11113388C	LDLR	NM_000527.5(LDLR):c.1297G>C:p.Asp433His	coding	Pathogenic/Likely_pathogenic
19	11113393	G	A	G11113393A	LDLR	NM_000527.5(LDLR):c.1302G>A:p.Thr434=	coding	Benign/Likely_benign
19	11113413	T	C	T11113413C	LDLR	NM_000527.5(LDLR):c.1322T>C:p.Ile441Thr	coding	Pathogenic/Likely_pathogenic
19	11113414	C	G	C11113414G	LDLR	NM_000527.5(LDLR):c.1323C>G:p.Ile441Met	coding	Pathogenic/Likely_pathogenic
19	11113414	C	T	C11113414T	LDLR	NM_000527.4(LDLR):c.1323C>T:p.Ile441=	coding	Benign/Likely_benign
19	11113417	C	G	C11113417G	LDLR	NM_000527.5(LDLR):c.1326C>G:p.Tyr442Ter	coding	Pathogenic
19	11113419	G	A	G11113419A	LDLR	NM_000527.5(LDLR):c.1328G>A:p.Trp443Ter	coding	Pathogenic
19	11113420	G	A	G11113420A	LDLR	NM_000527.5(LDLR):c.1329G>A:p.Trp443Ter	coding	Pathogenic
19	11113420	G	C	G11113420C	LDLR	NM_000527.5(LDLR):c.1329G>C:p.Trp443Cys	coding	Pathogenic/Likely_pathogenic
19	11113433	C	A	C11113433A	LDLR	NM_000527.4(LDLR):c.1342C>A:p.Gln448Lys	coding	Pathogenic
19	11113433	C	T	C11113433T	LDLR	NM_000527.5(LDLR):c.1342C>T:p.Gln448Ter	coding	Pathogenic
19	11113450	G	A	G11113450A	LDLR	NM_000527.5(LDLR):c.1358+1G>A	coding	Pathogenic/Likely_pathogenic
19	11113451	T	A	T11113451A	LDLR	NM_000527.5(LDLR):c.1358+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	11113451	T	C	T11113451C	LDLR	NM_000527.4(LDLR):c.1358+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11113454	G	T	G11113454T	LDLR	NM_000527.4(LDLR):c.1358+5G>T	noncoding	Pathogenic
19	11113481	C	T	C11113481T	LDLR	NM_000527.4(LDLR):c.1358+32C>T	coding	Benign
19	11113504	G	A	G11113504A	LDLR	NM_000527.4(LDLR):c.1359-31G>A	coding	Benign
19	11113505	C	T	C11113505T	LDLR	NM_000527.5(LDLR):c.1359-30C>T	coding	Benign
19	11113510	A	G	A11113510G	LDLR	NM_000527.4(LDLR):c.1359-25A>G	coding	Pathogenic
19	11113534	G	A	G11113534A	LDLR	NM_000527.5(LDLR):c.1359-1G>A	coding	Pathogenic/Likely_pathogenic
19	11113534	G	C	G11113534C	LDLR	NM_000527.5(LDLR):c.1359-1G>C	coding	Pathogenic/Likely_pathogenic
19	11113539	C	T	C11113539T	LDLR	NM_000527.5(LDLR):c.1363C>T:p.Gln455Ter	coding	Pathogenic
19	11113589	A	G	A11113589G	LDLR	NM_000527.5(LDLR):c.1413A>G:p.Arg471=	coding	Benign
19	11113593	A	G	A11113593G	LDLR	NM_000527.5(LDLR):c.1417A>G:p.Ile473Val	coding	Benign/Likely_benign
19	11113596	C	T	C11113596T	LDLR	NM_000527.5(LDLR):c.1420C>T:p.Gln474Ter	coding	Pathogenic
19	11113603	C	T	C11113603T	LDLR	NM_000527.4(LDLR):c.1427C>T:p.Pro476Leu	coding	Pathogenic
19	11113609	G	A	G11113609A	LDLR	NM_000527.4(LDLR):c.1433G>A:p.Gly478Glu	coding	Pathogenic
19	11113614	G	A	G11113614A	LDLR	NM_000527.4(LDLR):c.1438G>A:p.Ala480Thr	coding	Pathogenic
19	11113615	C	T	C11113615T	LDLR	NM_000527.4(LDLR):c.1439C>T:p.Ala480Val	coding	Pathogenic
19	11113620	G	A	G11113620A	LDLR	NM_000527.5(LDLR):c.1444G>A:p.Asp482Asn	coding	Pathogenic/Likely_pathogenic
19	11113623	T	C	T11113623C	LDLR	NM_000527.5(LDLR):c.1447T>C:p.Trp483Arg	coding	Pathogenic/Likely_pathogenic
19	11113624	G	A	G11113624A	LDLR	NM_000527.5(LDLR):c.1448G>A:p.Trp483Ter	coding	Pathogenic
19	11113624	G	T	G11113624T	LDLR	NM_000527.4(LDLR):c.1448G>T:p.Trp483Leu	coding	Pathogenic
19	11113625	G	A	G11113625A	LDLR	NM_000527.5(LDLR):c.1449G>A:p.Trp483Ter	coding	Pathogenic
19	11113625	G	C	G11113625C	LDLR	NM_000527.4(LDLR):c.1449G>C:p.Trp483Cys	coding	Pathogenic
19	11113639	T	A	T11113639A	LDLR	NM_000527.5(LDLR):c.1463T>A:p.Ile488Asn	coding	Pathogenic/Likely_pathogenic
19	11113643	C	A	C11113643A	LDLR	NM_000527.4(LDLR):c.1467C>A:p.Tyr489Ter	coding	Pathogenic
19	11113643	C	G	C11113643G	LDLR	NM_000527.5(LDLR):c.1467C>G:p.Tyr489Ter	coding	Pathogenic/Likely_pathogenic
19	11113644	T	C	T11113644C	LDLR	NM_000527.5(LDLR):c.1468T>C:p.Trp490Arg	coding	Pathogenic/Likely_pathogenic
19	11113645	G	A	G11113645A	LDLR	NM_000527.5(LDLR):c.1469G>A:p.Trp490Ter	coding	Pathogenic
19	11113645	G	T	G11113645T	LDLR	NM_000527.4(LDLR):c.1469G>T:p.Trp490Leu	coding	Pathogenic
19	11113646	G	A	G11113646A	LDLR	NM_000527.5(LDLR):c.1470G>A:p.Trp490Ter	coding	Pathogenic
19	11113667	T	C	T11113667C	LDLR	NM_000527.4(LDLR):c.1491T>C:p.Thr497=	coding	Benign
19	11113678	C	T	C11113678T	LDLR	NM_000527.5(LDLR):c.1502C>T:p.Ala501Val	coding	Pathogenic/Likely_pathogenic
19	11113686	A	T	A11113686T	LDLR	NM_000527.5(LDLR):c.1510A>T:p.Lys504Ter	coding	Pathogenic
19	11113697	G	C	G11113697C	LDLR	NM_000527.4(LDLR):c.1521G>C:p.Lys507Asn	coding	Pathogenic
19	11113708	T	G	T11113708G	LDLR	NM_000527.5(LDLR):c.1532T>G:p.Leu511Ter	coding	Pathogenic
19	11113716	G	T	G11113716T	LDLR	NM_000527.4(LDLR):c.1540G>T:p.Glu514Ter	coding	Pathogenic
19	11113721	C	T	C11113721T	LDLR	NM_000527.5(LDLR):c.1545C>T:p.Asn515=	coding	Benign/Likely_benign
19	11113734	A	G	A11113734G	LDLR	NM_000527.5(LDLR):c.1558A>G:p.Arg520Gly	coding	Pathogenic/Likely_pathogenic
19	11113743	G	A	G11113743A	LDLR	NM_000527.5(LDLR):c.1567G>A:p.Val523Met	coding	Pathogenic/Likely_pathogenic
19	11113763	G	A	G11113763A	LDLR	NM_000527.5(LDLR):c.1586+1G>A	coding	Pathogenic/Likely_pathogenic
19	11113764	T	A	T11113764A	LDLR	NM_000527.5(LDLR):c.1586+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	11113764	T	C	T11113764C	LDLR	NM_000527.5(LDLR):c.1586+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11116092	A	T	A11116092T	LDLR	NM_000527.5(LDLR):c.1587-2A>T	noncoding	Pathogenic/Likely_pathogenic
19	11116101	T	A	T11116101A	LDLR	NM_000527.5(LDLR):c.1594T>A:p.Tyr532Asn	coding	Pathogenic
19	11116103	C	G	C11116103G	LDLR	NM_000527.4(LDLR):c.1596C>G:p.Tyr532Ter	coding	Pathogenic
19	11116106	G	A	G11116106A	LDLR	NM_000527.5(LDLR):c.1599G>A:p.Trp533Ter	coding	Pathogenic
19	11116110	G	A	G11116110A	LDLR	NM_000527.4(LDLR):c.1603G>A:p.Asp535Asn	coding	Pathogenic
19	11116114	G	A	G11116114A	LDLR	NM_000527.5(LDLR):c.1607G>A:p.Trp536Ter	coding	Pathogenic
19	11116116	G	T	G11116116T	LDLR	NM_000527.5(LDLR):c.1609G>T:p.Gly537Ter	coding	Pathogenic
19	11116124	C	T	C11116124T	LDLR	NM_000527.5(LDLR):c.1617C>T:p.Pro539=	coding	Benign
19	11116125	G	A	G11116125A	LDLR	NM_000527.5(LDLR):c.1618G>A:p.Ala540Thr	coding	Pathogenic/Likely_pathogenic
19	11116132	T	G	T11116132G	LDLR	NM_000527.5(LDLR):c.1625T>G:p.Ile542Ser	coding	Pathogenic/Likely_pathogenic
19	11116140	G	A	G11116140A	LDLR	NM_000527.5(LDLR):c.1633G>A:p.Gly545Arg	coding	Pathogenic/Likely_pathogenic
19	11116144	G	A	G11116144A	LDLR	NM_000527.5(LDLR):c.1637G>A:p.Gly546Asp	coding	Pathogenic/Likely_pathogenic
19	11116153	G	A	G11116153A	LDLR	NM_000527.5(LDLR):c.1646G>A:p.Gly549Asp	coding	Pathogenic/Likely_pathogenic
19	11116168	C	A	C11116168A	LDLR	NM_000527.5(LDLR):c.1661C>A:p.Ser554Ter	coding	Pathogenic
19	11116179	G	T	G11116179T	LDLR	NM_000527.5(LDLR):c.1672G>T:p.Glu558Ter	coding	Pathogenic
19	11116185	A	T	A11116185T	LDLR	NM_000527.4(LDLR):c.1678A>T:p.Ile560Phe	coding	Pathogenic/Likely_pathogenic
19	11116188	C	T	C11116188T	LDLR	NM_000527.5(LDLR):c.1681C>T:p.Gln561Ter	coding	Pathogenic
19	11116192	G	A	G11116192A	LDLR	NM_000527.5(LDLR):c.1685G>A:p.Trp562Ter	coding	Pathogenic
19	11116193	G	A	G11116193A	LDLR	NM_000527.5(LDLR):c.1686G>A:p.Trp562Ter	coding	Pathogenic/Likely_pathogenic
19	11116198	A	G	A11116198G	LDLR	NM_000527.5(LDLR):c.1691A>G:p.Asn564Ser	coding	Pathogenic/Likely_pathogenic
19	11116201	G	C	G11116201C	LDLR	NM_000527.5(LDLR):c.1694G>C:p.Gly565Ala	coding	Pathogenic/Likely_pathogenic
19	11116201	G	T	G11116201T	LDLR	NM_000527.5(LDLR):c.1694G>T:p.Gly565Val	coding	Pathogenic/Likely_pathogenic
19	11116209	C	G	C11116209G	LDLR	NM_000527.5(LDLR):c.1702C>G:p.Leu568Val	coding	Pathogenic/Likely_pathogenic
19	11116210	T	C	T11116210C	LDLR	NM_000527.5(LDLR):c.1703T>C:p.Leu568Pro	coding	Pathogenic/Likely_pathogenic
19	11116213	G	A	G11116213A	LDLR	NM_000527.5(LDLR):c.1705+1G>A	coding	Pathogenic/Likely_pathogenic
19	11116213	G	C	G11116213C	LDLR	NM_000527.5(LDLR):c.1705+1G>C	coding	Pathogenic/Likely_pathogenic
19	11116213	G	T	G11116213T	LDLR	NM_000527.5(LDLR):c.1705+1G>T	coding	Pathogenic/Likely_pathogenic
19	11116214	T	C	T11116214C	LDLR	NM_000527.4(LDLR):c.1705+2T>C	noncoding	Pathogenic
19	11116790	G	T	G11116790T	LDLR	NM_000527.5(LDLR):c.1706-69G>T	noncoding	Benign
19	11116804	A	C	A11116804C	LDLR	NM_000527.4(LDLR):c.1706-55A>C	noncoding	Benign
19	11116857	A	C	A11116857C	LDLR	NM_000527.5(LDLR):c.1706-2A>C	noncoding	Pathogenic/Likely_pathogenic
19	11116857	A	T	A11116857T	LDLR	NM_000527.5(LDLR):c.1706-2A>T	noncoding	Pathogenic
19	11116858	G	C	G11116858C	LDLR	NM_000527.4(LDLR):c.1706-1G>C	noncoding	Pathogenic
19	11116858	G	T	G11116858T	LDLR	NM_000527.5(LDLR):c.1706-1G>T	noncoding	Pathogenic/Likely_pathogenic
19	11116878	C	T	C11116878T	LDLR	NM_000527.5(LDLR):c.1725C>T:p.Leu575=	coding	Benign/Likely_benign
19	11116882	T	C	T11116882C	LDLR	NM_000527.5(LDLR):c.1729T>C:p.Trp577Arg	coding	Pathogenic/Likely_pathogenic
19	11116882	T	G	T11116882G	LDLR	NM_000527.5(LDLR):c.1729T>G:p.Trp577Gly	coding	Pathogenic/Likely_pathogenic
19	11116883	G	A	G11116883A	LDLR	NM_000527.4(LDLR):c.1730G>A:p.Trp577Ter	coding	Pathogenic/Likely_pathogenic
19	11116883	G	C	G11116883C	LDLR	NM_000527.5(LDLR):c.1730G>C:p.Trp577Ser	coding	Pathogenic/Likely_pathogenic
19	11116884	G	A	G11116884A	LDLR	NM_000527.5(LDLR):c.1731G>A:p.Trp577Ter	coding	Pathogenic
19	11116884	G	C	G11116884C	LDLR	NM_000527.4(LDLR):c.1731G>C:p.Trp577Cys	coding	Pathogenic
19	11116886	T	C	T11116886C	LDLR	NM_000527.4(LDLR):c.1733T>C:p.Val578Ala	coding	Pathogenic
19	11116888	G	A	G11116888A	LDLR	NM_000527.5(LDLR):c.1735G>A:p.Asp579Asn	coding	Pathogenic/Likely_pathogenic
19	11116889	A	T	A11116889T	LDLR	NM_000527.5(LDLR):c.1736A>T:p.Asp579Val	coding	Pathogenic
19	11116894	A	T	A11116894T	LDLR	NM_000527.4(LDLR):c.1741A>T:p.Lys581Ter	coding	Pathogenic
19	11116896	A	T	A11116896T	LDLR	NM_000527.4(LDLR):c.1743A>T:p.Lys581Asn	coding	Pathogenic
19	11116897	C	T	C11116897T	LDLR	NM_000527.4(LDLR):c.1744C>T:p.Leu582Phe	coding	Pathogenic/Likely_pathogenic
19	11116910	C	A	C11116910A	LDLR	NM_000527.4(LDLR):c.1757C>A:p.Ser586Ter	coding	Pathogenic
19	11116910	C	G	C11116910G	LDLR	NM_000527.4(LDLR):c.1757C>G:p.Ser586Ter	coding	Pathogenic
19	11116917	C	T	C11116917T	LDLR	NM_000527.5(LDLR):c.1764C>T:p.Ile588=	coding	Benign/Likely_benign
19	11116926	C	T	C11116926T	LDLR	NM_000527.5(LDLR):c.1773C>T:p.Asn591=	coding	Benign/Likely_benign
19	11116928	G	A	G11116928A	LDLR	NM_000527.5(LDLR):c.1775G>A:p.Gly592Glu	coding	Pathogenic/Likely_pathogenic
19	11116939	A	T	A11116939T	LDLR	NM_000527.5(LDLR):c.1786A>T:p.Lys596Ter	coding	Pathogenic
19	11116951	G	T	G11116951T	LDLR	NM_000527.5(LDLR):c.1798G>T:p.Glu600Ter	coding	Pathogenic
19	11116955	A	G	A11116955G	LDLR	NM_000527.4(LDLR):c.1802A>G:p.Asp601Gly	coding	Benign
19	11116957	G	T	G11116957T	LDLR	NM_000527.4(LDLR):c.1804G>T:p.Glu602Ter	coding	Pathogenic
19	11116960	A	T	A11116960T	LDLR	NM_000527.5(LDLR):c.1807A>T:p.Lys603Ter	coding	Pathogenic
19	11116961	A	G	A11116961G	LDLR	NM_000527.4(LDLR):c.1808A>G:p.Lys603Arg	coding	Benign
19	11116966	C	T	C11116966T	LDLR	NM_000527.5(LDLR):c.1813C>T:p.Leu605=	coding	Pathogenic/Likely_pathogenic
19	11116970	C	A	C11116970A	LDLR	NM_000527.4(LDLR):c.1817C>A:p.Ala606Asp	coding	Pathogenic
19	11116982	C	T	C11116982T	LDLR	NM_000527.5(LDLR):c.1829C>T:p.Ser610Phe	coding	Pathogenic/Likely_pathogenic
19	11116986	G	C	G11116986C	LDLR	NM_000527.5(LDLR):c.1833G>C:p.Leu611Phe	coding	Pathogenic/Likely_pathogenic
19	11116999	G	A	G11116999A	LDLR	NM_000527.5(LDLR):c.1845+1G>A	coding	Pathogenic/Likely_pathogenic
19	11116999	G	C	G11116999C	LDLR	NM_000527.5(LDLR):c.1845+1G>C	coding	Pathogenic
19	11116999	G	T	G11116999T	LDLR	NM_000527.5(LDLR):c.1845+1G>T	coding	Pathogenic/Likely_pathogenic
19	11117000	T	A	T11117000A	LDLR	NM_000527.4(LDLR):c.1845+2T>A	noncoding	Pathogenic
19	11117000	T	C	T11117000C	LDLR	NM_000527.5(LDLR):c.1845+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11120091	G	A	G11120091A	LDLR	NM_000527.5(LDLR):c.1846-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11120099	T	G	T11120099G	LDLR	NM_000527.4(LDLR):c.1853T>G:p.Val618Gly	coding	Pathogenic/Likely_pathogenic
19	11120102	T	C	T11120102C	LDLR	NM_000527.5(LDLR):c.1856T>C:p.Phe619Ser	coding	Pathogenic/Likely_pathogenic
19	11120102	T	G	T11120102G	LDLR	NM_000527.5(LDLR):c.1856T>G:p.Phe619Cys	coding	Pathogenic/Likely_pathogenic
19	11120105	G	A	G11120105A	LDLR	NM_000527.5(LDLR):c.1859G>A:p.Trp620Ter	coding	Pathogenic
19	11120106	G	A	G11120106A	LDLR	NM_000527.5(LDLR):c.1860G>A:p.Trp620Ter	coding	Pathogenic
19	11120108	C	G	C11120108G	LDLR	NM_000527.5(LDLR):c.1862C>G:p.Thr621Arg	coding	Pathogenic/Likely_pathogenic
19	11120109	A	C	A11120109C	LDLR	NM_000527.4(LDLR):c.1863A>C:p.Thr621=	coding	Benign
19	11120110	G	A	G11120110A	LDLR	NM_000527.5(LDLR):c.1864G>A:p.Asp622Asn	coding	Pathogenic/Likely_pathogenic
19	11120125	G	A	G11120125A	LDLR	NM_000527.5(LDLR):c.1879G>A:p.Ala627Thr	coding	Pathogenic/Likely_pathogenic
19	11120126	C	A	C11120126A	LDLR	NM_000527.5(LDLR):c.1880C>A:p.Ala627Asp	coding	Pathogenic/Likely_pathogenic
19	11120133	C	T	C11120133T	LDLR	NM_000527.4(LDLR):c.1887C>T:p.Phe629=	coding	Benign
19	11120143	C	T	C11120143T	LDLR	NM_000527.5(LDLR):c.1897C>T:p.Arg633Cys	coding	Pathogenic/Likely_pathogenic
19	11120183	T	A	T11120183A	LDLR	NM_000527.4(LDLR):c.1937T>A:p.Leu646Gln	coding	Pathogenic
19	11120189	C	T	C11120189T	LDLR	NM_000527.4(LDLR):c.1943C>T:p.Ser648Phe	coding	Pathogenic
19	11120205	T	C	T11120205C	LDLR	NM_000527.5(LDLR):c.1959T>C:p.Val653=	coding	Benign/Likely_benign
19	11120223	C	A	C11120223A	LDLR	NM_000527.5(LDLR):c.1977C>A:p.Thr659=	coding	Benign/Likely_benign
19	11120224	C	T	C11120224T	LDLR	NM_000527.4(LDLR):c.1978C>T:p.Gln660Ter	coding	Pathogenic/Likely_pathogenic
19	11120235	T	A	T11120235A	LDLR	NM_000527.4(LDLR):c.1987+2T>A	noncoding	Pathogenic
19	11120280	G	A	G11120280A	LDLR	NM_000527.4(LDLR):c.1987+47G>A	noncoding	Benign
19	11120368	A	G	A11120368G	LDLR	NM_000527.4(LDLR):c.1988-2A>G	noncoding	Pathogenic
19	11120368	A	T	A11120368T	LDLR	NM_000527.5(LDLR):c.1988-2A>T	noncoding	Pathogenic/Likely_pathogenic
19	11120369	G	A	G11120369A	LDLR	NM_000527.4(LDLR):c.1988-1G>A	noncoding	Pathogenic
19	11120369	G	C	G11120369C	LDLR	NM_000527.4(LDLR):c.1988-1G>C	noncoding	Pathogenic
19	11120370	G	C	G11120370C	LDLR	NM_000527.4(LDLR):c.1988G>C:p.Gly663Ala	coding	Pathogenic
19	11120379	G	A	G11120379A	LDLR	NM_000527.5(LDLR):c.1997G>A:p.Trp666Ter	coding	Pathogenic
19	11120380	G	A	G11120380A	LDLR	NM_000527.5(LDLR):c.1998G>A:p.Trp666Ter	coding	Pathogenic
19	11120381	T	C	T11120381C	LDLR	NM_000527.5(LDLR):c.1999T>C:p.Cys667Arg	coding	Pathogenic/Likely_pathogenic
19	11120382	G	A	G11120382A	LDLR	NM_000527.5(LDLR):c.2000G>A:p.Cys667Tyr	coding	Pathogenic/Likely_pathogenic
19	11120383	T	A	T11120383A	LDLR	NM_000527.5(LDLR):c.2001T>A:p.Cys667Ter	coding	Pathogenic
19	11120383	T	G	T11120383G	LDLR	NM_000527.5(LDLR):c.2001T>G:p.Cys667Trp	coding	Pathogenic/Likely_pathogenic
19	11120408	G	T	G11120408T	LDLR	NM_000527.4(LDLR):c.2026G>T:p.Gly676Cys	coding	Pathogenic
19	11120411	T	C	T11120411C	LDLR	NM_000527.5(LDLR):c.2029T>C:p.Cys677Arg	coding	Pathogenic/Likely_pathogenic
19	11120414	C	T	C11120414T	LDLR	NM_000527.5(LDLR):c.2032C>T:p.Gln678Ter	coding	Pathogenic
19	11120419	T	A	T11120419A	LDLR	NM_000527.5(LDLR):c.2037T>A:p.Tyr679Ter	coding	Pathogenic
19	11120424	G	A	G11120424A	LDLR	NM_000527.5(LDLR):c.2042G>A:p.Cys681Tyr	coding	Pathogenic/Likely_pathogenic
19	11120424	G	C	G11120424C	LDLR	NM_000527.5(LDLR):c.2042G>C:p.Cys681Ser	coding	Pathogenic/Likely_pathogenic
19	11120425	C	A	C11120425A	LDLR	NM_000527.5(LDLR):c.2043C>A:p.Cys681Ter	coding	Pathogenic/Likely_pathogenic
19	11120426	C	T	C11120426T	LDLR	NM_000527.4(LDLR):c.2044C>T:p.Leu682Phe	coding	Pathogenic
19	11120435	C	T	C11120435T	LDLR	NM_000527.5(LDLR):c.2053C>T:p.Pro685Ser	coding	Pathogenic/Likely_pathogenic
19	11120436	C	T	C11120436T	LDLR	NM_000527.5(LDLR):c.2054C>T:p.Pro685Leu	coding	Pathogenic/Likely_pathogenic
19	11120438	C	T	C11120438T	LDLR	NM_000527.5(LDLR):c.2056C>T:p.Gln686Ter	coding	Pathogenic
19	11120454	C	A	C11120454A	LDLR	NM_000527.5(LDLR):c.2072C>A:p.Ser691Ter	coding	Pathogenic
19	11120469	G	A	G11120469A	LDLR	NM_000527.5(LDLR):c.2087G>A:p.Cys696Tyr	coding	Pathogenic/Likely_pathogenic
19	11120470	C	A	C11120470A	LDLR	NM_000527.5(LDLR):c.2088C>A:p.Cys696Ter	coding	Pathogenic
19	11120475	G	T	G11120475T	LDLR	NM_000527.5(LDLR):c.2093G>T:p.Cys698Phe	coding	Pathogenic/Likely_pathogenic
19	11120482	C	G	C11120482G	LDLR	NM_000527.5(LDLR):c.2100C>G:p.Asp700Glu	coding	Pathogenic/Likely_pathogenic
19	11120513	T	G	T11120513G	LDLR	NM_000527.4(LDLR):c.2131T>G:p.Cys711Gly	coding	Pathogenic
19	11120515	C	A	C11120515A	LDLR	NM_000527.5(LDLR):c.2133C>A:p.Cys711Ter	coding	Pathogenic
19	11120522	G	T	G11120522T	LDLR	NM_000527.5(LDLR):c.2140G>T:p.Glu714Ter	coding	Pathogenic/Likely_pathogenic
19	11120523	G	A	G11120523A	LDLR	NM_000527.5(LDLR):c.2140+1G>A	coding	Pathogenic/Likely_pathogenic
19	11120523	G	T	G11120523T	LDLR	NM_000527.5(LDLR):c.2140+1G>T	coding	Pathogenic/Likely_pathogenic
19	11120524	T	C	T11120524C	LDLR	NM_000527.5(LDLR):c.2140+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	11120608	C	G	C11120608G	LDLR	NM_000527.5(LDLR):c.2140+86C>G	noncoding	Pathogenic/Likely_pathogenic
19	11123172	A	G	A11123172G	LDLR	NM_000527.4(LDLR):c.2141-2A>G	noncoding	Pathogenic
19	11123197	C	T	C11123197T	LDLR	NM_000527.5(LDLR):c.2164C>T:p.Gln722Ter	coding	Pathogenic
19	11123200	G	T	G11123200T	LDLR	NM_000527.4(LDLR):c.2167G>T:p.Glu723Ter	coding	Pathogenic/Likely_pathogenic
19	11123263	C	T	C11123263T	LDLR	NM_000527.4(LDLR):c.2230C>T:p.Arg744Ter	coding	Pathogenic
19	11123265	A	G	A11123265G	LDLR	NM_000527.5(LDLR):c.2232A>G:p.Arg744=	coding	Benign
19	11123286	G	A	G11123286A	LDLR	NM_000527.4(LDLR):c.2253G>A:p.Arg751=	coding	Pathogenic
19	11123293	G	A	G11123293A	LDLR	NM_000527.4(LDLR):c.2260G>A:p.Gly754Arg	coding	Benign
19	11123322	G	T	G11123322T	LDLR	NM_000527.5(LDLR):c.2289G>T:p.Glu763Asp	coding	Benign/Likely_benign
19	11123341	C	T	C11123341T	LDLR	NM_000527.5(LDLR):c.2308C>T:p.Gln770Ter	coding	Pathogenic
19	11123345	G	A	G11123345A	LDLR	NM_000527.5(LDLR):c.2311+1G>A	coding	Pathogenic
19	11123345	G	T	G11123345T	LDLR	NM_000527.5(LDLR):c.2311+1G>T	coding	Pathogenic/Likely_pathogenic
19	11123346	T	G	T11123346G	LDLR	NM_000527.5(LDLR):c.2311+2T>G	noncoding	Pathogenic/Likely_pathogenic
19	11127961	G	A	G11127961A	LDLR	NM_000527.5(LDLR):c.2312-47G>A	noncoding	Benign
19	11128005	C	T	C11128005T	LDLR	NM_000527.4(LDLR):c.2312-3C>T	noncoding	Pathogenic
19	11128040	A	T	A11128040T	LDLR	NM_000527.4(LDLR):c.2344A>T:p.Lys782Ter	coding	Pathogenic
19	11128086	G	A	G11128086A	LDLR	NM_000527.5(LDLR):c.2389+1G>A	coding	Pathogenic/Likely_pathogenic
19	11128086	G	T	G11128086T	LDLR	NM_000527.5(LDLR):c.2389+1G>T	coding	Pathogenic/Likely_pathogenic
19	11128087	T	G	T11128087G	LDLR	NM_000527.5(LDLR):c.2389+2T>G	noncoding	Pathogenic/Likely_pathogenic
19	11128093	C	T	C11128093T	LDLR	NM_000527.4(LDLR):c.2389+8C>T	noncoding	Benign/Likely_benign
19	11128131	C	T	C11128131T	LDLR	NM_000527.4(LDLR):c.2389+46C>T	noncoding	Benign
19	11128132	G	A	G11128132A	LDLR	NM_000527.4(LDLR):c.2389+47G>A	noncoding	Benign
19	11129497	G	A	G11129497A	LDLR	NM_000527.5(LDLR):c.2390-16G>A	noncoding	Benign/Likely_benign
19	11129511	A	G	A11129511G	LDLR	NM_000527.5(LDLR):c.2390-2A>G	noncoding	Pathogenic
19	11129512	G	A	G11129512A	LDLR	NM_000527.5(LDLR):c.2390-1G>A	noncoding	Pathogenic
19	11129512	G	C	G11129512C	LDLR	NM_000527.5(LDLR):c.2390-1G>C	noncoding	Pathogenic/Likely_pathogenic
19	11129536	G	C	G11129536C	LDLR	NM_000527.4(LDLR):c.2413G>C:p.Gly805Arg	coding	Pathogenic
19	11129545	C	G	C11129545G	LDLR	NM_000527.4(LDLR):c.2422C>G:p.Leu808Val	coding	Pathogenic
19	11129550	A	G	A11129550G	LDLR	NM_000527.4(LDLR):c.2427A>G:p.Leu809=	coding	Benign/Likely_benign
19	11129553	G	A	G11129553A	LDLR	NM_000527.5(LDLR):c.2430G>A:p.Trp810Ter	coding	Pathogenic
19	11129554	A	T	A11129554T	LDLR	NM_000527.5(LDLR):c.2431A>T:p.Lys811Ter	coding	Pathogenic
19	11129561	G	A	G11129561A	LDLR	NM_000527.5(LDLR):c.2438G>A:p.Trp813Ter	coding	Pathogenic
19	11129562	G	A	G11129562A	LDLR	NM_000527.5(LDLR):c.2439G>A:p.Trp813Ter	coding	Pathogenic
19	11129569	A	C	A11129569C	LDLR	NM_000527.4(LDLR):c.2446A>C:p.Lys816Gln	coding	Pathogenic
19	11129569	A	T	A11129569T	LDLR	NM_000527.5(LDLR):c.2446A>T:p.Lys816Ter	coding	Pathogenic
19	11129598	C	A	C11129598A	LDLR	NM_000527.5(LDLR):c.2475C>A:p.Asn825Lys	coding	Pathogenic/Likely_pathogenic
19	11129598	C	G	C11129598G	LDLR	NM_000527.5(LDLR):c.2475C>G:p.Asn825Lys	coding	Pathogenic/Likely_pathogenic
19	11129599	C	T	C11129599T	LDLR	NM_000527.4(LDLR):c.2476C>T:p.Pro826Ser	coding	Pathogenic
19	11129606	A	G	A11129606G	LDLR	NM_000527.5(LDLR):c.2483A>G:p.Tyr828Cys	coding	Pathogenic/Likely_pathogenic
19	11129653	G	A	G11129653A	LDLR	NM_000527.4(LDLR):c.2530G>A:p.Gly844Ser	coding	Pathogenic
19	11129669	C	A	C11129669A	LDLR	NM_000527.5(LDLR):c.2546C>A:p.Ser849Ter	coding	Pathogenic/Likely_pathogenic
19	11129671	G	A	G11129671A	LDLR	NM_000527.5(LDLR):c.2547+1G>A	coding	Pathogenic/Likely_pathogenic
19	11129675	G	A	G11129675A	LDLR	NM_000527.4(LDLR):c.2547+5G>A	noncoding	Pathogenic
19	11131201	G	A	G11131201A	LDLR	NM_000527.4(LDLR):c.2548-80G>A	noncoding	Benign
19	11131239	A	G	A11131239G	LDLR	NM_000527.5(LDLR):c.2548-42A>G	noncoding	Benign
19	11131368	G	A	G11131368A	LDLR	NM_000527.4(LDLR):c.*52G>A	noncoding	Benign
19	11131457	G	A	G11131457A	LDLR	NM_000527.4(LDLR):c.*141G>A	noncoding	Benign/Likely_benign
19	11131631	G	C	G11131631C	LDLR	NM_000527.4(LDLR):c.*315G>C	noncoding	Benign/Likely_benign
19	11131820	G	A	G11131820A	LDLR	NM_000527.4(LDLR):c.*504G>A	noncoding	Benign/Likely_benign
19	11131982	T	C	T11131982C	LDLR	NM_000527.4(LDLR):c.*666T>C	noncoding	Benign/Likely_benign
19	11132089	A	G	A11132089G	LDLR	NM_000527.4(LDLR):c.*773A>G	noncoding	Benign/Likely_benign
19	11132298	G	C	G11132298C	LDLR	NM_000527.4(LDLR):c.*982G>C	noncoding	Benign
19	11133332	G	A	G11133332A	LDLR	NM_000527.4(LDLR):c.*2016G>A	noncoding	Benign
19	11174514	G	A	G11174514A	KANK2	NM_001136191.3(KANK2):c.2027C>T:p.Ser676Phe	coding	Pathogenic
19	11174532	G	A	G11174532A	KANK2	NM_001136191.3(KANK2):c.2009C>T:p.Ala670Val	coding	Pathogenic
19	11174543	G	A	G11174543A	KANK2	NM_001136191.3(KANK2):c.1998C>T:p.Asn666=	coding	Benign
19	11174555	G	A	G11174555A	KANK2	NM_001136191.3(KANK2):c.1986C>T:p.Ile662=	coding	Benign
19	11176650	T	C	T11176650C	KANK2	NM_001136191.3(KANK2):c.1688A>G:p.Gln563Arg	coding	Benign
19	11176662	C	A	C11176662A	KANK2	NM_001136191.3(KANK2):c.1676G>T:p.Arg559Leu	coding	Benign
19	11176736	C	T	C11176736T	KANK2	NM_001136191.3(KANK2):c.1602G>A:p.Pro534=	coding	Benign
19	11178397	C	T	C11178397T	KANK2	NM_001136191.3(KANK2):c.1468G>A:p.Ala490Thr	coding	Benign
19	11178453	G	A	G11178453A	KANK2	NM_001136191.3(KANK2):c.1418-6C>T	coding	Benign
19	11178631	C	T	C11178631T	KANK2	NM_001136191.3(KANK2):c.1339G>A:p.Val447Met	coding	Benign
19	11193042	G	A	G11193042A	KANK2	NM_001136191.3(KANK2):c.1038C>T:p.Ala346=	coding	Benign
19	11193491	G	A	G11193491A	KANK2	NM_001136191.3(KANK2):c.589C>T:p.Arg197Trp	coding	Benign
19	11193539	T	C	T11193539C	KANK2	NM_001136191.3(KANK2):c.541A>G:p.Ser181Gly	coding	Pathogenic
19	11200433	A	T	A11200433T	DOCK6	NM_020812.4(DOCK6):c.5976T>A:p.Ile1992=	coding	Benign
19	11200460	A	G	A11200460G	DOCK6	NM_020812.4(DOCK6):c.5949T>C:p.Asp1983=	coding	Benign
19	11200714	A	G	A11200714G	DOCK6	NM_020812.4(DOCK6):c.5939+2T>C	noncoding	Pathogenic
19	11200905	G	A	G11200905A	DOCK6	NM_020812.4(DOCK6):c.5832+4C>T	noncoding	Benign
19	11201041	C	T	C11201041T	DOCK6	NM_020812.4(DOCK6):c.5700G>A:p.Thr1900=	coding	Benign
19	11201880	C	G	C11201880G	DOCK6	NM_020812.4(DOCK6):c.5688+9G>C	noncoding	Benign
19	11202580	G	A	G11202580A	DOCK6	NM_020812.4(DOCK6):c.5361+4C>T	noncoding	Benign
19	11204087	G	T	G11204087T	DOCK6	NM_020812.4(DOCK6):c.5229C>A:p.Gly1743=	coding	Benign
19	11204280	G	A	G11204280A	DOCK6	NM_020812.4(DOCK6):c.5140C>T:p.Leu1714=	coding	Benign
19	11208678	G	C	G11208678C	DOCK6	NM_020812.4(DOCK6):c.5088+8C>G	noncoding	Benign/Likely_benign
19	11208815	G	A	G11208815A	DOCK6	NM_020812.4(DOCK6):c.4959C>T:p.Asn1653=	coding	Benign
19	11208922	C	T	C11208922T	DOCK6	NM_020812.4(DOCK6):c.4933G>A:p.Val1645Ile	coding	Benign
19	11208956	C	T	C11208956T	DOCK6	NM_020812.4(DOCK6):c.4899G>A:p.Leu1633=	coding	Benign
19	11208960	G	A	G11208960A	DOCK6	NM_020812.4(DOCK6):c.4895C>T:p.Ala1632Val	coding	Benign
19	11208986	C	T	C11208986T	DOCK6	NM_020812.4(DOCK6):c.4869G>A:p.Ala1623=	coding	Benign
19	11212095	C	T	C11212095T	DOCK6	NM_020812.4(DOCK6):c.4548G>A:p.Thr1516=	coding	Benign/Likely_benign
19	11213175	C	T	C11213175T	DOCK6	NM_020812.4(DOCK6):c.4491+1G>A	noncoding	Pathogenic
19	11213187	C	A	C11213187A	DOCK6	NM_020812.4(DOCK6):c.4480G>T:p.Glu1494Ter	coding	Pathogenic
19	11213188	G	A	G11213188A	DOCK6	NM_020812.4(DOCK6):c.4479C>T:p.Phe1493=	coding	Benign
19	11213323	C	T	C11213323T	DOCK6	NM_020812.4(DOCK6):c.4344G>A:p.Pro1448=	coding	Benign/Likely_benign
19	11214355	C	G	C11214355G	DOCK6	NM_020812.4(DOCK6):c.4258G>C:p.Val1420Leu	coding	Benign
19	11214360	T	C	T11214360C	DOCK6	NM_020812.4(DOCK6):c.4253A>G:p.Lys1418Arg	coding	Benign
19	11214408	G	A	G11214408A	DOCK6	NM_020812.4(DOCK6):c.4205C>T:p.Thr1402Met	coding	Benign/Likely_benign
19	11214559	G	A	G11214559A	DOCK6	NM_020812.4(DOCK6):c.4197C>T:p.Ile1399=	coding	Benign
19	11214650	C	G	C11214650G	DOCK6	NM_020812.4(DOCK6):c.4107-1G>C	coding	Pathogenic
19	11215443	A	G	A11215443G	DOCK6	NM_020812.4(DOCK6):c.4050T>C:p.Asn1350=	coding	Benign
19	11215449	C	T	C11215449T	DOCK6	NM_020812.4(DOCK6):c.4044G>A:p.Pro1348=	coding	Benign
19	11215909	G	A	G11215909A	DOCK6	NM_020812.4(DOCK6):c.3913C>T:p.Arg1305Cys	coding	Benign/Likely_benign
19	11216895	C	T	C11216895T	DOCK6	NM_020812.4(DOCK6):c.3894+19G>A	noncoding	Benign
19	11216932	T	C	T11216932C	DOCK6	NM_020812.4(DOCK6):c.3876A>G:p.Leu1292=	coding	Benign
19	11216935	G	A	G11216935A	DOCK6	NM_020812.4(DOCK6):c.3873C>T:p.Cys1291=	coding	Benign
19	11216950	A	G	A11216950G	DOCK6	NM_020812.4(DOCK6):c.3858T>C:p.Asp1286=	coding	Benign
19	11221875	A	G	A11221875G	DOCK6	NM_020812.4(DOCK6):c.3526T>C:p.Leu1176=	coding	Benign
19	11221894	T	A	T11221894A	DOCK6	NM_020812.4(DOCK6):c.3507A>T:p.Leu1169=	coding	Benign
19	11222821	C	T	C11222821T	DOCK6	NM_020812.4(DOCK6):c.3154G>A:p.Glu1052Lys	coding	Pathogenic
19	11223111	G	A	G11223111A	DOCK6	NM_020812.4(DOCK6):c.2956-5C>T	noncoding	Benign
19	11227409	G	A	G11227409A	DOCK6	NM_020812.4(DOCK6):c.2883C>T:p.Pro961=	coding	Benign
19	11228982	G	C	G11228982C	DOCK6	NM_020812.4(DOCK6):c.2772C>G:p.Arg924=	coding	Benign
19	11235602	C	G	C11235602G	DOCK6	NM_020812.4(DOCK6):c.2550G>C:p.Pro850=	coding	Benign
19	11235646	C	T	C11235646T	DOCK6	NM_020812.4(DOCK6):c.2506G>A:p.Val836Ile	coding	Benign
19	11235676	G	A	G11235676A	DOCK6	NM_020812.4(DOCK6):c.2476C>T:p.Arg826Cys	coding	Benign
19	11236482	G	A	G11236482A	DOCK6	NM_020812.4(DOCK6):c.2256C>T:p.Asn752=	coding	Benign
19	11236788	C	T	C11236788T	DOCK6	NM_020812.4(DOCK6):c.2160+5G>A	noncoding	Benign
19	11236850	G	A	G11236850A	DOCK6	NM_020812.4(DOCK6):c.2103C>T:p.Asp701=	coding	Benign
19	11236868	C	T	C11236868T	DOCK6	NM_020812.4(DOCK6):c.2085G>A:p.Pro695=	coding	Benign
19	11237532	C	T	C11237532T	DOCK6	NM_020812.4(DOCK6):c.1997G>A:p.Arg666His	coding	Benign
19	11237536	C	T	C11237536T	DOCK6	NM_020812.4(DOCK6):c.1993G>A:p.Gly665Arg	coding	Benign
19	11237537	G	A	G11237537A	DOCK6	NM_020812.4(DOCK6):c.1992C>T:p.His664=	coding	Benign
19	11237653	G	A	G11237653A	DOCK6	NM_020812.4(DOCK6):c.1959C>T:p.Pro653=	coding	Benign
19	11237674	C	T	C11237674T	DOCK6	NM_020812.4(DOCK6):c.1938G>A:p.Pro646=	coding	Benign
19	11237787	A	T	A11237787T	DOCK6	NM_020812.4(DOCK6):c.1833-8T>A	noncoding	Benign
19	11238181	A	G	A11238181G	DOCK6	NM_020812.4(DOCK6):c.1761+6T>C	noncoding	Benign
19	11238250	G	A	G11238250A	DOCK6	NM_020812.4(DOCK6):c.1698C>T:p.Ser566=	coding	Benign
19	11238309	G	C	G11238309C	DOCK6	NM_020812.4(DOCK6):c.1644-5C>G	noncoding	Benign
19	11242040	C	T	C11242040T	DOCK6	NM_020812.4(DOCK6):c.1643+5G>A	noncoding	Benign
19	11242080	G	A	G11242080A	DOCK6	NM_020812.4(DOCK6):c.1608C>T:p.Pro536=	coding	Benign
19	11243077	G	A	G11243077A	DOCK6	NM_020812.4(DOCK6):c.1462C>T:p.Arg488Ter	coding	Pathogenic
19	11243150	C	T	C11243150T	DOCK6	NM_020812.4(DOCK6):c.1389G>A:p.Glu463=	coding	Benign
19	11243157	A	G	A11243157G	DOCK6	NM_020812.4(DOCK6):c.1387-5T>C	noncoding	Benign
19	11245701	G	A	G11245701A	DOCK6	NM_020812.4(DOCK6):c.885C>T:p.Asn295=	coding	Benign
19	11245875	G	A	G11245875A	DOCK6	NM_020812.4(DOCK6):c.810C>T:p.Phe270=	coding	Benign
19	11248084	A	T	A11248084T	DOCK6	NM_020812.4(DOCK6):c.788T>A:p.Val263Asp	coding	Pathogenic
19	11248112	G	A	G11248112A	DOCK6	NM_020812.4(DOCK6):c.760C>T:p.Arg254Cys	coding	Benign
19	11248123	G	A	G11248123A	DOCK6	NM_020812.4(DOCK6):c.749C>T:p.Pro250Leu	coding	Benign
19	11248143	G	C	G11248143C	DOCK6	NM_020812.4(DOCK6):c.729C>G:p.Ala243=	coding	Benign
19	11250889	G	C	G11250889C	DOCK6	NM_020812.4(DOCK6):c.705C>G:p.Tyr235Ter	coding	Pathogenic/Likely_pathogenic
19	11250915	G	T	G11250915T	DOCK6	NM_020812.4(DOCK6):c.679C>A:p.Arg227=	coding	Benign
19	11250964	C	T	C11250964T	DOCK6	NM_020812.4(DOCK6):c.630G>A:p.Ala210=	coding	Benign
19	11252109	G	A	G11252109A	DOCK6	NM_020812.4(DOCK6):c.507+10C>T	noncoding	Benign
19	11252192	C	T	C11252192T	DOCK6	NM_020812.4(DOCK6):c.434G>A:p.Arg145Gln	coding	Benign/Likely_benign
19	11252239	G	C	G11252239C	DOCK6	NM_020812.4(DOCK6):c.387C>G:p.Tyr129Ter	coding	Pathogenic
19	11252470	A	T	A11252470T	DOCK6	NM_020812.4(DOCK6):c.377+12T>A	noncoding	Benign
19	11252868	G	A	G11252868A	DOCK6	NM_020812.4(DOCK6):c.223C>T:p.Leu75=	coding	Benign
19	11335657	G	T	G11335657T	RAB3D	NM_004283.4(RAB3D):c.347+8C>A	noncoding	Benign
19	11377300	G	T	G11377300T	EPOR	NM_000121.4(EPOR):c.*684C>A	noncoding	Benign
19	11377314	C	T	C11377314T	EPOR	NM_000121.4(EPOR):c.*670G>A	noncoding	Benign
19	11377407	T	C	T11377407C	EPOR	NM_000121.4(EPOR):c.*577A>G	noncoding	Benign
19	11377480	C	T	C11377480T	EPOR	NM_000121.4(EPOR):c.*504G>A	noncoding	Benign
19	11377559	G	A	G11377559A	EPOR	NM_000121.4(EPOR):c.*425C>T	noncoding	Benign
19	11377949	C	T	C11377949T	EPOR	NM_000121.4(EPOR):c.*35G>A	noncoding	Benign
19	11377952	A	G	A11377952G	EPOR	NM_000121.4(EPOR):c.*32T>C	noncoding	Benign
19	11378049	G	A	G11378049A	EPOR	NM_000121.4(EPOR):c.1462C>T:p.Pro488Ser	coding	Benign/Likely_benign
19	11378051	T	C	T11378051C	EPOR	NM_000121.4(EPOR):c.1460A>G:p.Asn487Ser	coding	Benign
19	11378084	G	A	G11378084A	EPOR	NM_000121.4(EPOR):c.1427C>T:p.Ala476Val	coding	Benign
19	11378113	A	G	A11378113G	EPOR	NM_000121.4(EPOR):c.1398T>C:p.Thr466=	coding	Benign
19	11378195	C	T	C11378195T	EPOR	NM_000121.4(EPOR):c.1316G>A:p.Trp439Ter	coding	Pathogenic
19	11378201	C	T	C11378201T	EPOR	NM_000121.4(EPOR):c.1310G>A:p.Arg437His	coding	Benign
19	11378372	G	A	G11378372A	EPOR	NM_000121.4(EPOR):c.1139C>T:p.Pro380Leu	coding	Benign
19	11378373	G	C	G11378373C	EPOR	NM_000121.4(EPOR):c.1138C>G:p.Pro380Ala	coding	Benign
19	11378470	C	T	C11378470T	EPOR	NM_000121.4(EPOR):c.1041G>A:p.Pro347=	coding	Benign
19	11380910	G	C	G11380910C	EPOR	NM_000121.4(EPOR):c.801C>G:p.Thr267=	coding	Benign
19	11381138	G	T	G11381138T	EPOR	NM_000121.4(EPOR):c.657C>A:p.Ala219=	coding	Benign
19	11381709	C	A	C11381709A	EPOR	NM_000121.4(EPOR):c.568G>T:p.Ala190Ser	coding	Benign
19	11381719	G	A	G11381719A	EPOR	NM_000121.4(EPOR):c.558C>T:p.Ala186=	coding	Benign
19	11381839	G	A	G11381839A	EPOR	NM_000121.4(EPOR):c.438C>T:p.Asp146=	coding	Benign
19	11382061	G	A	G11382061A	EPOR	NM_000121.4(EPOR):c.296C>T:p.Ala99Val	coding	Benign/Likely_benign
19	11383090	G	T	G11383090T	EPOR	NM_000121.4(EPOR):c.251+7C>A	coding	Benign
19	11383180	C	A	C11383180A	EPOR	NM_000121.4(EPOR):c.168G>T:p.Arg56=	coding	Benign
19	11383211	C	T	C11383211T	EPOR	NM_000121.4(EPOR):c.137G>A:p.Gly46Glu	coding	Benign
19	11384086	T	C	T11384086C	EPOR	NM_000121.4(EPOR):c.115+7A>G	noncoding	Benign
19	11384184	G	A	G11384184A	EPOR	NM_000121.4(EPOR):c.24C>T:p.Leu8=	coding	Benign/Likely_benign
19	11384262	C	T	C11384262T	EPOR	NM_000121.4(EPOR):c.-55G>A	noncoding	Benign
19	11420918	C	A	C11420918A	ODAD3	NM_145045.5(ODAD3):c.1705G>T:p.Val569Leu	coding	Benign
19	11421766	C	T	C11421766T	ODAD3	NM_145045.5(ODAD3):c.1501G>A:p.Gly501Ser	coding	Benign
19	11422722	G	T	G11422722T	ODAD3	NM_145045.5(ODAD3):c.1256C>A:p.Ser419Ter	coding	Pathogenic
19	11422775	C	T	C11422775T	ODAD3	NM_145045.5(ODAD3):c.1203G>A:p.Arg401=	coding	Benign
19	11423933	G	A	G11423933A	ODAD3	NM_145045.5(ODAD3):c.1060C>T:p.Gln354Ter	coding	Pathogenic
19	11426182	C	A	C11426182A	ODAD3	NM_145045.5(ODAD3):c.925G>T:p.Glu309Ter	coding	Pathogenic
19	11426186	G	A	G11426186A	ODAD3	NM_145045.5(ODAD3):c.921C>T:p.Arg307=	coding	Benign
19	11426557	G	A	G11426557A	ODAD3	NM_145045.5(ODAD3):c.729C>T:p.Asn243=	coding	Benign
19	11426783	G	A	G11426783A	ODAD3	NM_145045.5(ODAD3):c.614C>T:p.Thr205Ile	coding	Benign
19	11426998	G	A	G11426998A	ODAD3	NM_145045.5(ODAD3):c.487C>T:p.Gln163Ter	coding	Pathogenic
19	11430719	G	C	G11430719C	ODAD3	NM_145045.5(ODAD3):c.424C>G:p.Leu142Val	coding	Benign
19	11431011	C	T	C11431011T	ODAD3	NM_145045.5(ODAD3):c.254G>A:p.Arg85Gln	coding	Benign/Likely_benign
19	11434844	A	G	A11434844G	ODAD3	NM_145045.5(ODAD3):c.173T>C:p.Phe58Ser	coding	Benign
19	11434869	G	A	G11434869A	ODAD3	NM_145045.5(ODAD3):c.148C>T:p.Pro50Ser	coding	Benign
19	11434872	T	G	T11434872G	ODAD3	NM_145045.5(ODAD3):c.145A>C:p.Thr49Pro	coding	Benign
19	11435448	G	A	G11435448A	PRKCSH	NM_001302453.1(ODAD3):c.82+242C>T	coding	Benign
19	11435654	C	T	C11435654T	PRKCSH	NM_002743.3(PRKCSH):c.-130C>T	coding	Benign
19	11435665	C	G	C11435665G	PRKCSH	NM_002743.3(PRKCSH):c.-119C>G	coding	Benign
19	11436154	T	C	T11436154C	PRKCSH	NM_001289104.2(PRKCSH):c.37T>C:p.Trp13Arg	coding	Benign
19	11436382	C	G	C11436382G	PRKCSH	NM_002743.3(PRKCSH):c.80-7C>G	noncoding	Benign
19	11436485	A	G	A11436485G	PRKCSH	NM_001289104.2(PRKCSH):c.176A>G:p.Lys59Arg	coding	Benign
19	11437972	G	C	G11437972C	PRKCSH	NM_002743.3(PRKCSH):c.292+1G>C	coding	Pathogenic
19	11438134	T	C	T11438134C	PRKCSH	NM_002743.3(PRKCSH):c.350+10T>C	noncoding	Benign
19	11441235	C	T	C11441235T	PRKCSH	NM_002743.3(PRKCSH):c.351-5C>T	noncoding	Benign
19	11441343	C	T	C11441343T	PRKCSH	NM_002743.3(PRKCSH):c.454C>T:p.Arg152Trp	coding	Benign/Likely_benign
19	11442376	G	A	G11442376A	PRKCSH	NM_002743.3(PRKCSH):c.469-10G>A	noncoding	Benign
19	11442466	T	C	T11442466C	PRKCSH	NM_002743.3(PRKCSH):c.549T>C:p.Ala183=	coding	Benign
19	11445418	G	A	G11445418A	PRKCSH	NM_002743.3(PRKCSH):c.628G>A:p.Glu210Lys	coding	Benign
19	11445468	C	T	C11445468T	PRKCSH	NM_001289104.2(PRKCSH):c.678C>T:p.Asp226=	coding	Benign
19	11446278	G	A	G11446278A	PRKCSH	NM_002743.3(PRKCSH):c.690G>A:p.Ser230=	coding	Benign
19	11446339	G	T	G11446339T	PRKCSH	NM_002743.3(PRKCSH):c.751G>T:p.Ala251Ser	coding	Benign
19	11447118	C	T	C11447118T	PRKCSH	NM_002743.3(PRKCSH):c.807C>T:p.Tyr269=	coding	Benign
19	11447133	C	T	C11447133T	PRKCSH	NM_002743.3(PRKCSH):c.822C>T:p.Ala274=	coding	Benign
19	11447145	C	T	C11447145T	PRKCSH	NM_002743.3(PRKCSH):c.834C>T:p.Asp278=	coding	Benign
19	11447425	T	C	T11447425C	PRKCSH	NM_002743.3(PRKCSH):c.850-14T>C	noncoding	Benign
19	11447460	G	A	G11447460A	PRKCSH	NM_002743.3(PRKCSH):c.871G>A:p.Ala291Thr	coding	Benign
19	11447519	G	A	G11447519A	PRKCSH	NM_002743.3(PRKCSH):c.930G>A:p.Ser310=	coding	Benign
19	11447565	G	A	G11447565A	PRKCSH	NM_002743.3(PRKCSH):c.976G>A:p.Ala326Thr	coding	Benign/Likely_benign
19	11447718	C	T	C11447718T	PRKCSH	NM_002743.3(PRKCSH):c.1034C>T:p.Pro345Leu	coding	Benign
19	11447755	G	A	G11447755A	PRKCSH	NM_002743.3(PRKCSH):c.1071G>A:p.Pro357=	coding	Benign
19	11448603	C	T	C11448603T	PRKCSH	NM_002743.3(PRKCSH):c.1239C>T:p.Ser413=	coding	Benign
19	11448604	C	T	C11448604T	PRKCSH	NM_002743.3(PRKCSH):c.1240C>T:p.Gln414Ter	coding	Pathogenic
19	11448643	A	G	A11448643G	PRKCSH	NM_002743.3(PRKCSH):c.1265+14A>G	noncoding	Benign
19	11448917	C	G	C11448917G	PRKCSH	NM_002743.3(PRKCSH):c.1269C>G:p.Tyr423Ter	coding	Pathogenic
19	11448919	T	C	T11448919C	PRKCSH	NM_002743.3(PRKCSH):c.1271T>C:p.Val424Ala	coding	Benign
19	11448986	T	C	T11448986C	PRKCSH	NM_002743.3(PRKCSH):c.1338T>C:p.Leu446=	coding	Benign
19	11449074	A	G	A11449074G	PRKCSH	NM_002743.3(PRKCSH):c.1341-2A>G	noncoding	Pathogenic
19	11449092	A	G	A11449092G	PRKCSH	NM_002743.3(PRKCSH):c.1357A>G:p.Ile453Val	coding	Benign
19	11449130	T	G	T11449130G	PRKCSH	NM_002743.3(PRKCSH):c.1395T>G:p.Tyr465Ter	coding	Pathogenic
19	11449274	C	T	C11449274T	PRKCSH	NM_001289104.2(PRKCSH):c.1470C>T:p.Leu490=	coding	Benign
19	11449338	G	T	G11449338T	PRKCSH	NM_002743.3(PRKCSH):c.1513G>T:p.Glu505Ter	coding	Pathogenic
19	11449340	G	A	G11449340A	PRKCSH	NM_002743.3(PRKCSH):c.1515G>A:p.Glu505=	coding	Benign
19	11449363	C	T	C11449363T	PRKCSH	NM_001289104.2(PRKCSH):c.1559C>T:p.Pro520Leu	coding	Benign
19	11449394	C	T	C11449394T	PRKCSH	NM_002743.3(PRKCSH):c.1569C>T:p.Asp523=	coding	Benign
19	11449434	C	T	C11449434T	PRKCSH	NM_002743.3(PRKCSH):c.*16+6C>T	noncoding	Benign
19	11450810	G	A	G11450810A	PRKCSH	NM_002743.3(PRKCSH):c.*181G>A	noncoding	Benign
19	11450814	T	C	T11450814C	PRKCSH	NM_002743.3(PRKCSH):c.*185T>C	noncoding	Benign
19	11466211	G	A	G11466211A	ELAVL3	NM_001420.4(ELAVL3):c.294C>T:p.Asn98=	coding	Benign
19	11466783	G	A	G11466783A	ELAVL3	NM_001420.4(ELAVL3):c.54C>T:p.Ala18=	coding	Benign
19	11575033	G	A	G11575033A	ACP5	NM_001611.5(ACP5):c.955C>T:p.Leu319=	coding	Benign
19	11575127	G	A	G11575127A	ACP5	NM_001611.5(ACP5):c.861C>T:p.Asp287=	coding	Benign
19	11575133	A	G	A11575133G	ACP5	NM_001611.5(ACP5):c.855T>C:p.Thr285=	coding	Benign
19	11575250	G	T	G11575250T	ACP5	NM_001611.5(ACP5):c.738C>A:p.Tyr246Ter	coding	Pathogenic
19	11576285	G	A	G11576285A	ACP5	NM_001611.5(ACP5):c.693C>T:p.Tyr231=	coding	Benign
19	11576311	G	A	G11576311A	ACP5	NM_001611.5(ACP5):c.667C>T:p.Gln223Ter	coding	Pathogenic
19	11576317	C	T	C11576317T	ACP5	NM_001611.5(ACP5):c.661G>A:p.Val221Ile	coding	Benign
19	11576335	C	G	C11576335G	ACP5	NM_001611.5(ACP5):c.643G>C:p.Gly215Arg	coding	Pathogenic
19	11576335	C	T	C11576335T	ACP5	NM_001611.5(ACP5):c.643G>A:p.Gly215Arg	coding	Pathogenic
19	11576376	A	G	A11576376G	ACP5	NM_001611.5(ACP5):c.602T>C:p.Leu201Pro	coding	Pathogenic
19	11576377	G	A	G11576377A	ACP5	NM_001611.5(ACP5):c.601C>T:p.Leu201=	coding	Benign/Likely_benign
19	11576380	C	T	C11576380T	ACP5	NM_001611.5(ACP5):c.598G>A:p.Val200Met	coding	Benign
19	11576452	G	A	G11576452A	ACP5	NM_001611.5(ACP5):c.526C>T:p.Arg176Ter	coding	Pathogenic
19	11576536	C	T	C11576536T	ACP5	NM_001611.5(ACP5):c.442G>A:p.Val148Met	coding	Benign
19	11576736	G	T	G11576736T	ACP5;ZNF627	NM_001611.5(ACP5):c.369C>A:p.Tyr123Ter	coding	Pathogenic
19	11576780	C	T	C11576780T	ACP5	NM_001611.5(ACP5):c.325G>A:p.Gly109Arg	coding	Pathogenic
19	11576829	G	A	G11576829A	ACP5	NM_001611.5(ACP5):c.276C>T:p.Asp92=	coding	Benign
19	11576839	G	A	G11576839A	ACP5	NM_001611.5(ACP5):c.266C>T:p.Thr89Ile	coding	Pathogenic
19	11577093	G	A	G11577093A	ACP5	NM_001611.5(ACP5):c.225C>T:p.Phe75=	coding	Benign
19	11577187	G	A	G11577187A	ACP5	NM_001611.5(ACP5):c.131C>T:p.Thr44Met	coding	Pathogenic
19	11777703	G	C	G11777703C	ZNF441	NM_152355.3(ZNF441):c.96G>C:p.Val32=	coding	Benign
19	11780091	A	G	A11780091G	ZNF441	NM_152355.3(ZNF441):c.267A>G:p.Gln89=	coding	Benign
19	11781738	T	A	T11781738A	ZNF441	NM_152355.3(ZNF441):c.1914T>A:p.Thr638=	coding	Benign
19	11830406	T	A	T11830406A	ZNF440	NM_152357.3(ZNF440):c.127T>A:p.Leu43Ile	coding	Benign
19	11977067	G	A	G11977067A	ZNF763	NM_001367172.2(ZNF763):c.33G>A:p.Val11=	coding	Benign
19	11978549	G	T	G11978549T	ZNF763	NM_001367172.2(ZNF763):c.625G>T:p.Val209Phe	coding	Benign
19	12646663	C	T	C12646663T	MAN2B1	NM_000528.4(MAN2B1):c.2993G>A:p.Arg998His	coding	Benign
19	12647269	C	A	C12647269A	MAN2B1	NM_000528.4(MAN2B1):c.2887G>T:p.Glu963Ter	coding	Pathogenic
19	12647272	G	A	G12647272A	MAN2B1	NM_000528.4(MAN2B1):c.2884C>T:p.Arg962Cys	coding	Benign
19	12647593	T	C	T12647593C	MAN2B1	NM_000528.4(MAN2B1):c.2670A>G:p.Ser890=	coding	Benign
19	12647594	G	C	G12647594C	MAN2B1	NM_000528.4(MAN2B1):c.2669C>G:p.Ser890Ter	coding	Pathogenic
19	12648277	G	C	G12648277C	MAN2B1	NM_000528.4(MAN2B1):c.2562C>G:p.Ala854=	coding	Benign
19	12648404	T	C	T12648404C	MAN2B1	NM_000528.4(MAN2B1):c.2437-2A>G	noncoding	Pathogenic
19	12649134	A	G	A12649134G	MAN2B1	NM_000528.4(MAN2B1):c.2436+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	12649146	A	G	A12649146G	MAN2B1	NM_000528.4(MAN2B1):c.2426T>C:p.Leu809Pro	coding	Pathogenic/Likely_pathogenic
19	12649163	G	A	G12649163A	MAN2B1	NM_000528.4(MAN2B1):c.2409C>T:p.Ser803=	coding	Benign
19	12649174	C	T	C12649174T	MAN2B1	NM_000528.4(MAN2B1):c.2398G>A:p.Gly800Arg	coding	Pathogenic
19	12649218	T	C	T12649218C	MAN2B1	NM_000528.4(MAN2B1):c.2356-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	12649341	C	T	C12649341T	MAN2B1	NM_000528.4(MAN2B1):c.2355G>A:p.Thr785=	coding	Pathogenic/Likely_pathogenic
19	12649386	G	A	G12649386A	MAN2B1	NM_000528.4(MAN2B1):c.2310C>T:p.Pro770=	coding	Benign
19	12649397	G	A	G12649397A	MAN2B1	NM_000528.4(MAN2B1):c.2299C>T:p.Gln767Ter	coding	Pathogenic
19	12649413	G	A	G12649413A	MAN2B1	NM_000528.4(MAN2B1):c.2283C>T:p.Pro761=	coding	Benign/Likely_benign
19	12649418	G	A	G12649418A	MAN2B1	NM_000528.4(MAN2B1):c.2278C>T:p.Arg760Ter	coding	Pathogenic/Likely_pathogenic
19	12649697	T	C	T12649697C	MAN2B1	NM_000528.4(MAN2B1):c.2267+216A>G	noncoding	Benign
19	12649850	T	C	T12649850C	MAN2B1	NM_000528.4(MAN2B1):c.2267+63A>G	noncoding	Benign
19	12649910	C	G	C12649910G	MAN2B1	NM_000528.4(MAN2B1):c.2267+3G>C	noncoding	Benign
19	12649932	G	A	G12649932A	MAN2B1	NM_000528.4(MAN2B1):c.2248C>T:p.Arg750Trp	coding	Pathogenic
19	12649959	C	T	C12649959T	MAN2B1	NM_000528.4(MAN2B1):c.2221G>A:p.Gly741Arg	coding	Benign
19	12650103	C	T	C12650103T	MAN2B1	NM_000528.4(MAN2B1):c.2165+1G>A	noncoding	Pathogenic
19	12651969	T	C	T12651969C	MAN2B1	NM_000528.4(MAN2B1):c.2046+184A>G	noncoding	Benign
19	12652193	G	A	G12652193A	MAN2B1	NM_000528.4(MAN2B1):c.2006C>T:p.Pro669Leu	coding	Benign
19	12652236	G	A	G12652236A	MAN2B1	NM_000528.4(MAN2B1):c.1963C>T:p.Gln655Ter	coding	Pathogenic
19	12652245	C	A	C12652245A	MAN2B1	NM_000528.4(MAN2B1):c.1954G>T:p.Glu652Ter	coding	Pathogenic
19	12652264	G	A	G12652264A	MAN2B1	NM_000528.4(MAN2B1):c.1935C>T:p.Asn645=	coding	Benign
19	12652270	C	T	C12652270T	MAN2B1	NM_000528.4(MAN2B1):c.1929G>A:p.Trp643Ter	coding	Pathogenic
19	12652271	C	A	C12652271A	MAN2B1	NM_000528.4(MAN2B1):c.1929-1G>T	coding	Pathogenic/Likely_pathogenic
19	12652363	C	T	C12652363T	MAN2B1	NM_000528.4(MAN2B1):c.1928G>A:p.Trp643Ter	coding	Pathogenic
19	12652376	G	A	G12652376A	MAN2B1	NM_000528.4(MAN2B1):c.1915C>T:p.Gln639Ter	coding	Pathogenic
19	12652462	T	C	T12652462C	MAN2B1	NM_000528.4(MAN2B1):c.1831-2A>G	noncoding	Pathogenic
19	12655556	G	A	G12655556A	MAN2B1	NM_000528.4(MAN2B1):c.1830+138C>T	noncoding	Benign
19	12655693	C	G	C12655693G	MAN2B1	NM_000528.4(MAN2B1):c.1830+1G>C	noncoding	Pathogenic
19	12655780	G	C	G12655780C	MAN2B1	NM_000528.4(MAN2B1):c.1744C>G:p.Gln582Glu	coding	Benign
19	12655837	C	A	C12655837A	MAN2B1	NM_000528.4(MAN2B1):c.1687G>T:p.Glu563Ter	coding	Pathogenic/Likely_pathogenic
19	12655860	G	C	G12655860C	MAN2B1	NM_000528.4(MAN2B1):c.1664C>G:p.Ser555Ter	coding	Pathogenic
19	12656567	T	C	T12656567C	MAN2B1	NM_000528.4(MAN2B1):c.1644+4A>G	noncoding	Pathogenic
19	12656634	C	T	C12656634T	MAN2B1	NM_000528.4(MAN2B1):c.1581G>A:p.Arg527=	coding	Benign/Likely_benign
19	12657035	C	A	C12657035A	MAN2B1	NM_000528.4(MAN2B1):c.1441G>T:p.Ala481Ser	coding	Benign
19	12657482	G	C	G12657482C	MAN2B1	NM_000528.4(MAN2B1):c.1383C>G:p.Tyr461Ter	coding	Pathogenic/Likely_pathogenic
19	12657482	G	T	G12657482T	MAN2B1	NM_000528.4(MAN2B1):c.1383C>A:p.Tyr461Ter	coding	Pathogenic
19	12657514	C	A	C12657514A	MAN2B1	NM_000528.4(MAN2B1):c.1351G>T:p.Gly451Cys	coding	Pathogenic
19	12657577	G	A	G12657577A	MAN2B1	NM_000528.4(MAN2B1):c.1310-22C>T	noncoding	Benign
19	12658088	A	C	A12658088C	MAN2B1	NM_000528.4(MAN2B1):c.1284T>G:p.Tyr428Ter	coding	Pathogenic
19	12658134	T	C	T12658134C	MAN2B1	NM_000528.4(MAN2B1):c.1238A>G:p.Asn413Ser	coding	Benign
19	12658251	G	C	G12658251C	MAN2B1	NM_000528.4(MAN2B1):c.1203C>G:p.Tyr401Ter	coding	Pathogenic
19	12658428	C	T	C12658428T	MAN2B1	NM_000528.4(MAN2B1):c.1109G>A:p.Trp370Ter	coding	Pathogenic/Likely_pathogenic
19	12658469	G	C	G12658469C	MAN2B1	NM_000528.4(MAN2B1):c.1068C>G:p.Pro356=	coding	Benign/Likely_benign
19	12661009	A	G	A12661009G	MAN2B1	NM_000528.4(MAN2B1):c.1026+251T>C	noncoding	Benign
19	12661276	C	T	C12661276T	MAN2B1	NM_000528.4(MAN2B1):c.1010G>A:p.Arg337Gln	coding	Benign
19	12661351	G	A	G12661351A	MAN2B1	NM_000528.4(MAN2B1):c.935C>T:p.Thr312Ile	coding	Benign
19	12661351	G	T	G12661351T	MAN2B1	NM_000528.4(MAN2B1):c.935C>A:p.Thr312Asn	coding	Benign/Likely_benign
19	12661449	T	C	T12661449C	MAN2B1	NM_000528.4(MAN2B1):c.910-73A>G	noncoding	Benign
19	12663394	G	C	G12663394C	MAN2B1	NM_000528.4(MAN2B1):c.832C>G:p.Leu278Val	coding	Benign
19	12663443	G	T	G12663443T	MAN2B1	NM_000528.4(MAN2B1):c.783C>A:p.Tyr261Ter	coding	Pathogenic
19	12663718	C	A	C12663718A	MAN2B1	NM_000528.4(MAN2B1):c.748G>T:p.Ala250Ser	coding	Benign
19	12663719	G	A	G12663719A	MAN2B1	NM_000528.4(MAN2B1):c.747C>T:p.Thr249=	coding	Benign
19	12663747	C	T	C12663747T	MAN2B1	NM_000528.4(MAN2B1):c.719G>A:p.Arg240Gln	coding	Benign/Likely_benign
19	12663781	G	A	G12663781A	MAN2B1	NM_000528.4(MAN2B1):c.685C>T:p.Arg229Trp	coding	Pathogenic/Likely_pathogenic
19	12664048	G	A	G12664048A	MAN2B1	NM_000528.4(MAN2B1):c.631-213C>T	noncoding	Benign
19	12664828	G	A	G12664828A	MAN2B1	NM_000528.4(MAN2B1):c.594C>T:p.Phe198=	coding	Benign
19	12664860	G	A	G12664860A	MAN2B1	NM_000528.4(MAN2B1):c.562C>T:p.Arg188Ter	coding	Pathogenic
19	12665370	G	A	G12665370A	MAN2B1	NM_000528.4(MAN2B1):c.418C>T:p.Arg140Ter	coding	Pathogenic/Likely_pathogenic
19	12665400	G	A	G12665400A	MAN2B1	NM_000528.4(MAN2B1):c.388C>T:p.Gln130Ter	coding	Pathogenic
19	12665404	C	T	C12665404T	MAN2B1	NM_000528.4(MAN2B1):c.384G>A:p.Trp128Ter	coding	Pathogenic
19	12665524	G	T	G12665524T	MAN2B1	NM_000528.4(MAN2B1):c.264C>A:p.Ile88=	coding	Benign
19	12665718	G	A	G12665718A	MAN2B1	NM_000528.4(MAN2B1):c.247C>T:p.Gln83Ter	coding	Pathogenic
19	12666567	G	A	G12666567A	MAN2B1	NM_000528.4(MAN2B1):c.135C>T:p.Ala45=	coding	Benign
19	12669899	C	T	C12669899T	WDR83	NM_001099737.3(WDR83):c.103+6C>T	noncoding	Benign
19	12701448	G	A	G12701448A	TNPO2	NM_001136196.2(TNPO2):c.2592C>T:p.Leu864=	coding	Benign
19	12702168	G	A	G12702168A	TNPO2	NM_001136196.2(TNPO2):c.2315C>T:p.Thr772Met	coding	Benign
19	12703730	A	G	A12703730G	TNPO2	NM_001136196.2(TNPO2):c.2094T>C:p.His698=	coding	Benign
19	12711381	T	C	T12711381C	TNPO2	NM_001136196.2(TNPO2):c.1032A>G:p.Thr344=	coding	Benign
19	12715306	G	A	G12715306A	TNPO2	NM_001136196.2(TNPO2):c.585C>T:p.Cys195=	coding	Benign
19	12715329	C	T	C12715329T	TNPO2	NM_001136196.2(TNPO2):c.567-5G>A	noncoding	Benign
19	12767435	C	G	C12767435G	HOOK2	NM_013312.3(HOOK2):c.1333G>C:p.Val445Leu	coding	Benign
19	12772183	C	A	C12772183A	HOOK2	NM_013312.3(HOOK2):c.519+7G>T	noncoding	Benign
19	12806658	T	C	T12806658C	RNASEH2A	NM_006397.2(RNASEH2A):c.-16T>C	noncoding	Benign
19	12806706	A	G	A12806706G	RNASEH2A	NM_006397.3(RNASEH2A):c.33A>G:p.Thr11=	coding	Benign
19	12806742	G	A	G12806742A	RNASEH2A	NM_006397.2(RNASEH2A):c.69G>A:p.Val23=	coding	Pathogenic
19	12806748	C	T	C12806748T	RNASEH2A	NM_006397.2(RNASEH2A):c.75C>T:p.Arg25=	coding	Pathogenic
19	12806782	G	A	G12806782A	RNASEH2A	NM_006397.2(RNASEH2A):c.109G>A:p.Gly37Ser	coding	Pathogenic
19	12807328	C	T	C12807328T	RNASEH2A	NM_006397.2(RNASEH2A):c.322C>T:p.Arg108Trp	coding	Pathogenic
19	12807434	G	T	G12807434T	RNASEH2A	NM_006397.3(RNASEH2A):c.339G>T:p.Leu113=	coding	Benign
19	12810065	T	G	T12810065G	RNASEH2A	NM_006397.2(RNASEH2A):c.412-6T>G	noncoding	Benign
19	12810121	G	A	G12810121A	RNASEH2A	NM_006397.3(RNASEH2A):c.462G>A:p.Gln154=	coding	Benign
19	12810306	T	C	T12810306C	RNASEH2A	NM_006397.3(RNASEH2A):c.550-11T>C	noncoding	Benign
19	12810372	T	C	T12810372C	RNASEH2A	NM_006397.3(RNASEH2A):c.605T>C:p.Leu202Ser	coding	Benign
19	12810382	T	A	T12810382A	RNASEH2A	NM_006397.2(RNASEH2A):c.615T>A:p.Asp205Glu	coding	Benign
19	12810417	G	A	G12810417A	RNASEH2A	NM_006397.2(RNASEH2A):c.637+13G>A	noncoding	Benign
19	12813107	A	G	A12813107G	RNASEH2A	NM_006397.2(RNASEH2A):c.662A>G:p.Lys221Arg	coding	Benign/Likely_benign
19	12813135	C	A	C12813135A	RNASEH2A	NM_006397.2(RNASEH2A):c.690C>A:p.Phe230Leu	coding	Pathogenic
19	12813149	G	A	G12813149A	RNASEH2A	NM_006397.2(RNASEH2A):c.704G>A:p.Arg235Gln	coding	Pathogenic
19	12813164	C	T	C12813164T	RNASEH2A	NM_006397.2(RNASEH2A):c.719C>T:p.Thr240Met	coding	Pathogenic
19	12813343	C	T	C12813343T	RNASEH2A	NM_006397.3(RNASEH2A):c.777C>T:p.Ser259=	coding	Benign
19	12813438	G	A	G12813438A	RNASEH2A	NM_006397.2(RNASEH2A):c.872G>A:p.Arg291His	coding	Pathogenic
19	12813586	C	T	C12813586T	RNASEH2A	NM_006397.2(RNASEH2A):c.*120C>T	noncoding	Benign
19	12829923	G	A	G12829923A	RTBDN	NM_031429.2(RTBDN):c.153C>T:p.Thr51=	coding	Benign
19	12865070	C	T	C12865070T	MAST1	NM_014975.3(MAST1):c.1530C>T:p.His510=	coding	Benign
19	12865089	G	A	G12865089A	MAST1	NM_014975.3(MAST1):c.1549G>A:p.Gly517Ser	coding	Pathogenic
19	12884431	G	C	G12884431C	KLF1	NM_006563.4(KLF1):c.*454C>G	noncoding	Benign
19	12884589	C	T	C12884589T	KLF1	NM_006563.4(KLF1):c.*296G>A	noncoding	Benign
19	12884594	T	C	T12884594C	KLF1	NM_006563.4(KLF1):c.*291A>G	noncoding	Benign
19	12884608	G	A	G12884608A	KLF1	NM_006563.4(KLF1):c.*277C>T	noncoding	Benign
19	12884631	G	A	G12884631A	KLF1	NM_006563.4(KLF1):c.*254C>T	noncoding	Benign
19	12884700	C	T	C12884700T	KLF1	NM_006563.4(KLF1):c.*185G>A	noncoding	Benign
19	12884863	A	T	A12884863T	KLF1	NM_006563.4(KLF1):c.*22T>A	noncoding	Benign
19	12884903	G	T	G12884903T	KLF1	NM_006563.4(KLF1):c.1071C>A:p.His357Gln	coding	Pathogenic
19	12884962	G	A	G12884962A	KLF1	NM_006563.4(KLF1):c.1012C>T:p.Pro338Ser	coding	Pathogenic
19	12884997	A	C	A12884997C	KLF1	NM_006563.4(KLF1):c.977T>G:p.Leu326Arg	coding	Pathogenic
19	12885001	C	T	C12885001T	KLF1	NM_006563.4(KLF1):c.973G>A:p.Glu325Lys	coding	Pathogenic
19	12885335	G	A	G12885335A	KLF1	NM_006563.4(KLF1):c.895C>T:p.His299Tyr	coding	Pathogenic
19	12885338	C	G	C12885338G	KLF1	NM_006563.4(KLF1):c.892G>C:p.Ala298Pro	coding	Pathogenic
19	12885356	T	A	T12885356A	KLF1	NM_006563.4(KLF1):c.874A>T:p.Lys292Ter	coding	Pathogenic
19	12885368	T	A	T12885368A	KLF1	NM_006563.4(KLF1):c.862A>T:p.Lys288Ter	coding	Pathogenic
19	12885421	G	C	G12885421C	KLF1	NM_006563.5(KLF1):c.809C>G:p.Ser270Trp	coding	Benign
19	12885427	C	A	C12885427A	KLF1	NM_006563.5(KLF1):c.803G>T:p.Arg268Leu	coding	Benign
19	12885473	C	T	C12885473T	KLF1	NM_006563.5(KLF1):c.757G>A:p.Glu253Lys	coding	Benign
19	12885601	G	C	G12885601C	KLF1	NM_006563.4(KLF1):c.629C>G:p.Pro210Arg	coding	Benign
19	12885639	G	C	G12885639C	KLF1	NM_006563.5(KLF1):c.591C>G:p.Tyr197Ter	coding	Pathogenic
19	12885686	A	G	A12885686G	KLF1	NM_006563.4(KLF1):c.544T>C:p.Phe182Leu	coding	Benign
19	12885689	A	T	A12885689T	KLF1	NM_006563.5(KLF1):c.541T>A:p.Tyr181Asn	coding	Benign
19	12885710	C	A	C12885710A	KLF1	NM_006563.4(KLF1):c.520G>T:p.Gly174Cys	coding	Benign
19	12885905	G	A	G12885905A	KLF1	NM_006563.4(KLF1):c.325C>T:p.Pro109Ser	coding	Benign
19	12885919	G	A	G12885919A	KLF1	NM_006563.4(KLF1):c.311C>T:p.Ala104Val	coding	Benign
19	12885926	A	G	A12885926G	KLF1	NM_006563.5(KLF1):c.304T>C:p.Ser102Pro	coding	Benign
19	12885944	G	A	G12885944A	KLF1	NM_006563.4(KLF1):c.286C>T:p.Leu96=	coding	Benign
19	12886115	T	G	T12886115G	KLF1	NM_006563.4(KLF1):c.115A>C:p.Met39Leu	coding	Benign
19	12887128	C	T	C12887128T	KLF1	NM_006563.4(KLF1):c.13G>A:p.Glu5Lys	coding	Benign
19	12891391	G	A	G12891391A	GCDH	NM_000159.4(GCDH):c.87G>A:p.Gln29=	coding	Benign
19	12891400	G	A	G12891400A	GCDH	NM_000159.4(GCDH):c.91+5G>A	noncoding	Pathogenic/Likely_pathogenic
19	12891400	G	T	G12891400T	GCDH	NM_000159.4(GCDH):c.91+5G>T	noncoding	Pathogenic
19	12891570	T	C	T12891570C	GCDH	NM_000159.4(GCDH):c.127+48T>C	coding	Benign
19	12891853	G	C	G12891853C	GCDH	NM_000159.4(GCDH):c.150G>C:p.Trp50Cys	coding	Pathogenic
19	12891929	C	T	C12891929T	GCDH	NM_000159.4(GCDH):c.226C>T:p.Gln76Ter	coding	Pathogenic/Likely_pathogenic
19	12891965	C	A	C12891965A	GCDH	NM_000159.4(GCDH):c.262C>A:p.Arg88Ser	coding	Pathogenic/Likely_pathogenic
19	12891965	C	T	C12891965T	GCDH	NM_000159.4(GCDH):c.262C>T:p.Arg88Cys	coding	Pathogenic
19	12891975	G	A	G12891975A	GCDH	NM_000159.4(GCDH):c.271+1G>A	coding	Pathogenic/Likely_pathogenic
19	12892125	G	A	G12892125A	GCDH	NM_000159.4(GCDH):c.281G>A:p.Arg94Gln	coding	Pathogenic/Likely_pathogenic
19	12892140	A	G	A12892140G	GCDH	NM_000159.4(GCDH):c.296A>G:p.Glu99Gly	coding	Pathogenic
19	12893492	G	A	G12893492A	GCDH	NM_000159.4(GCDH):c.344G>A:p.Cys115Tyr	coding	Pathogenic
19	12893530	C	T	C12893530T	GCDH	NM_000159.4(GCDH):c.382C>T:p.Arg128Ter	coding	Pathogenic
19	12893531	G	A	G12893531A	GCDH	NM_000159.4(GCDH):c.383G>A:p.Arg128Gln	coding	Pathogenic/Likely_pathogenic
19	12893534	A	C	A12893534C	GCDH	NM_000159.4(GCDH):c.386A>C:p.Glu129Ala	coding	Pathogenic
19	12893543	G	A	G12893543A	GCDH	NM_000159.4(GCDH):c.395G>A:p.Arg132Gln	coding	Pathogenic/Likely_pathogenic
19	12893554	G	T	G12893554T	GCDH	NM_000159.4(GCDH):c.406G>T:p.Gly136Cys	coding	Pathogenic
19	12893579	A	C	A12893579C	GCDH	NM_000159.4(GCDH):c.431A>C:p.Gln144Pro	coding	Pathogenic
19	12893604	C	G	C12893604G	GCDH	NM_000159.4(GCDH):c.456C>G:p.Ile152Met	coding	Pathogenic
19	12893626	C	T	C12893626T	GCDH	NM_000159.4(GCDH):c.478C>T:p.Gln160Ter	coding	Pathogenic
19	12893629	C	T	C12893629T	GCDH	NM_000159.4(GCDH):c.481C>T:p.Arg161Trp	coding	Pathogenic
19	12893630	G	A	G12893630A	GCDH	NM_000159.4(GCDH):c.482G>A:p.Arg161Gln	coding	Pathogenic
19	12893685	G	A	G12893685A	GCDH	NM_000159.4(GCDH):c.505+32G>A	noncoding	Benign
19	12896018	G	A	G12896018A	GCDH	NM_000159.4(GCDH):c.532G>A:p.Gly178Arg	coding	Pathogenic/Likely_pathogenic
19	12896019	G	A	G12896019A	GCDH	NM_000159.4(GCDH):c.533G>A:p.Gly178Glu	coding	Pathogenic/Likely_pathogenic
19	12896027	G	C	G12896027C	GCDH	NM_000159.4(GCDH):c.541G>C:p.Glu181Gln	coding	Pathogenic
19	12896028	A	G	A12896028G	GCDH	NM_000159.4(GCDH):c.542A>G:p.Glu181Gly	coding	Pathogenic
19	12896039	G	A	G12896039A	GCDH	NM_000159.4(GCDH):c.553G>A:p.Gly185Arg	coding	Pathogenic
19	12896058	T	C	T12896058C	GCDH	NM_000159.4(GCDH):c.572T>C:p.Met191Thr	coding	Pathogenic/Likely_pathogenic
19	12896204	G	A	G12896204A	GCDH	NM_000159.4(GCDH):c.636-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	12896224	G	A	G12896224A	GCDH	NM_000159.4(GCDH):c.655G>A:p.Ala219Thr	coding	Pathogenic
19	12896249	G	C	G12896249C	GCDH	NM_000159.4(GCDH):c.680G>C:p.Arg227Pro	coding	Pathogenic
19	12896270	G	C	G12896270C	GCDH	NM_000159.4(GCDH):c.701G>C:p.Arg234Pro	coding	Pathogenic
19	12896304	C	T	C12896304T	GCDH	NM_000159.4(GCDH):c.735C>T:p.Leu245=	coding	Benign
19	12896312	C	T	C12896312T	GCDH	NM_000159.4(GCDH):c.743C>T:p.Pro248Leu	coding	Pathogenic/Likely_pathogenic
19	12896320	C	T	C12896320T	GCDH	NM_000159.4(GCDH):c.751C>T:p.Gln251Ter	coding	Pathogenic
19	12896333	C	T	C12896333T	GCDH	NM_000159.4(GCDH):c.764C>T:p.Ser255Leu	coding	Pathogenic/Likely_pathogenic
19	12896338	C	T	C12896338T	GCDH	NM_000159.4(GCDH):c.769C>T:p.Arg257Trp	coding	Pathogenic/Likely_pathogenic
19	12896339	G	A	G12896339A	GCDH	NM_000159.4(GCDH):c.770G>A:p.Arg257Gln	coding	Pathogenic
19	12896370	C	T	C12896370T	GCDH	NM_000159.4(GCDH):c.801C>T:p.Asp267=	coding	Benign
19	12896417	T	C	T12896417C	GCDH	NM_000159.4(GCDH):c.848T>C:p.Leu283Pro	coding	Pathogenic
19	12896644	C	T	C12896644T	GCDH	NM_000159.4(GCDH):c.852+223C>T	noncoding	Benign
19	12896937	C	T	C12896937T	GCDH	NM_000159.4(GCDH):c.880C>T:p.Arg294Trp	coding	Pathogenic
19	12896940	T	C	T12896940C	GCDH	NM_000159.4(GCDH):c.883T>C:p.Tyr295His	coding	Pathogenic
19	12896942	C	A	C12896942A	GCDH	NM_000159.4(GCDH):c.885C>A:p.Tyr295Ter	coding	Pathogenic
19	12896949	G	A	G12896949A	GCDH	NM_000159.4(GCDH):c.892G>A:p.Ala298Thr	coding	Pathogenic
19	12896953	G	A	G12896953A	GCDH	NM_000159.4(GCDH):c.896G>A:p.Trp299Ter	coding	Pathogenic
19	12896971	C	T	C12896971T	GCDH	NM_000159.4(GCDH):c.914C>T:p.Ser305Leu	coding	Pathogenic
19	12896994	C	T	C12896994T	GCDH	NM_000159.4(GCDH):c.937C>T:p.Arg313Trp	coding	Pathogenic/Likely_pathogenic
19	12896997	C	T	C12896997T	GCDH	NM_000159.4(GCDH):c.940C>T:p.Gln314Ter	coding	Pathogenic
19	12897345	G	A	G12897345A	GCDH	NM_000159.4(GCDH):c.999G>A:p.Gln333=	coding	Benign
19	12897357	A	G	A12897357G	GCDH	NM_000159.4(GCDH):c.1011A>G:p.Ala337=	coding	Benign
19	12897391	G	A	G12897391A	GCDH	NM_000159.4(GCDH):c.1045G>A:p.Ala349Thr	coding	Pathogenic
19	12897400	C	T	C12897400T	GCDH	NM_000159.4(GCDH):c.1054C>T:p.Gln352Ter	coding	Pathogenic
19	12897406	G	A	G12897406A	GCDH	NM_000159.4(GCDH):c.1060G>A:p.Gly354Ser	coding	Pathogenic/Likely_pathogenic
19	12897409	C	T	C12897409T	GCDH	NM_000159.4(GCDH):c.1063C>T:p.Arg355Cys	coding	Pathogenic/Likely_pathogenic
19	12897410	G	A	G12897410A	GCDH	NM_000159.4(GCDH):c.1064G>A:p.Arg355His	coding	Pathogenic
19	12897597	T	C	T12897597C	GCDH	NM_000159.4(GCDH):c.1083-106T>C	noncoding	Benign
19	12897705	C	A	C12897705A	GCDH	NM_000159.4(GCDH):c.1085C>A:p.Ala362Asp	coding	Benign/Likely_benign
19	12897713	G	A	G12897713A	GCDH	NM_000159.4(GCDH):c.1093G>A:p.Glu365Lys	coding	Pathogenic/Likely_pathogenic
19	12897734	A	G	A12897734G	GCDH	NM_000159.4(GCDH):c.1114A>G:p.Arg372Gly	coding	Pathogenic
19	12897753	C	T	C12897753T	GCDH	NM_000159.4(GCDH):c.1133C>T:p.Ala378Val	coding	Pathogenic
19	12897776	C	G	C12897776G	GCDH	NM_000159.4(GCDH):c.1156C>G:p.Arg386Gly	coding	Pathogenic/Likely_pathogenic
19	12897776	C	T	C12897776T	GCDH	NM_000159.4(GCDH):c.1156C>T:p.Arg386Ter	coding	Pathogenic
19	12897788	G	C	G12897788C	GCDH	NM_000159.4(GCDH):c.1168G>C:p.Gly390Arg	coding	Pathogenic
19	12897793	G	T	G12897793T	GCDH	NM_000159.4(GCDH):c.1173G>T:p.Gly391=	coding	Benign
19	12897802	T	G	T12897802G	GCDH	NM_000159.4(GCDH):c.1182T>G:p.Ile394Met	coding	Pathogenic
19	12897809	G	A	G12897809A	GCDH	NM_000159.4(GCDH):c.1189G>A:p.Glu397Lys	coding	Pathogenic
19	12897818	G	A	G12897818A	GCDH	NM_000159.4(GCDH):c.1198G>A:p.Val400Met	coding	Pathogenic
19	12897824	C	T	C12897824T	GCDH	NM_000159.4(GCDH):c.1204C>T:p.Arg402Trp	coding	Pathogenic/Likely_pathogenic
19	12897825	G	A	G12897825A	GCDH	NM_000159.4(GCDH):c.1205G>A:p.Arg402Gln	coding	Pathogenic/Likely_pathogenic
19	12897833	A	G	A12897833G	GCDH	NM_000159.4(GCDH):c.1213A>G:p.Met405Val	coding	Pathogenic
19	12897860	G	A	G12897860A	GCDH	NM_000159.4(GCDH):c.1240G>A:p.Glu414Lys	coding	Pathogenic
19	12897860	G	T	G12897860T	GCDH	NM_000159.4(GCDH):c.1240G>T:p.Glu414Ter	coding	Pathogenic
19	12899466	A	C	A12899466C	GCDH	NM_000159.4(GCDH):c.1244-2A>C	noncoding	Pathogenic
19	12899471	C	T	C12899471T	GCDH	NM_000159.4(GCDH):c.1247C>T:p.Thr416Ile	coding	Pathogenic
19	12899486	C	T	C12899486T	GCDH	NM_000159.4(GCDH):c.1262C>T:p.Ala421Val	coding	Pathogenic
19	12899522	C	A	C12899522A	GCDH	NM_000159.4(GCDH):c.1298C>A:p.Ala433Glu	coding	Pathogenic
19	12899706	A	G	A12899706G	GCDH	NM_000159.4(GCDH):c.*165A>G	coding	Benign
19	12899829	G	T	G12899829T	GCDH	NM_000159.4(GCDH):c.*288G>T	coding	Benign
19	12924492	G	T	G12924492T	FARSA	NM_004461.3(FARSA):c.1230C>A:p.Asn410Lys	coding	Pathogenic
19	12928417	A	G	A12928417G	FARSA	NM_004461.3(FARSA):c.766T>C:p.Phe256Leu	coding	Pathogenic
19	12939212	A	G	A12939212G	CALR	NM_004343.4(CALR):c.170A>G:p.Tyr57Cys	coding	Benign
19	12940356	C	T	C12940356T	CALR	NM_004343.4(CALR):c.606C>T:p.Phe202=	coding	Benign
19	12940735	C	T	C12940735T	CALR	NM_004343.4(CALR):c.817-9C>T	noncoding	Benign
19	12943587	A	G	A12943587G	CALR	NM_004343.4(CALR):c.1011A>G:p.Ala337=	coding	Benign
19	12943801	A	C	A12943801C	CALR	NM_004343.4(CALR):c.1142A>C:p.Glu381Ala	coding	Benign
19	12954282	T	C	T12954282C	GADD45GIP1	NM_052850.4(GADD45GIP1):c.595A>G:p.Lys199Glu	coding	Benign
19	13073055	C	T	C13073055T	NFIX	NM_002501.4(NFIX):c.568C>T:p.Gln190Ter	coding	Pathogenic
19	13073436	C	T	C13073436T	NFIX	NM_002501.4(NFIX):c.637C>T:p.Gln213Ter	coding	Pathogenic
19	13073465	G	A	G13073465A	NFIX	NM_002501.4(NFIX):c.666G>A:p.Trp222Ter	coding	Pathogenic
19	13073924	C	G	C13073924G	NFIX	NM_002501.4(NFIX):c.716C>G:p.Ser239Ter	coding	Pathogenic
19	13073980	C	T	C13073980T	NFIX	NM_002501.4(NFIX):c.772C>T:p.Gln258Ter	coding	Pathogenic
19	13075672	G	A	G13075672A	NFIX	NM_002501.4(NFIX):c.955+1G>A	coding	Pathogenic
19	13075672	G	T	G13075672T	NFIX	NM_002501.4(NFIX):c.955+1G>T	coding	Pathogenic
19	13075710	C	T	C13075710T	NFIX	NM_002501.4(NFIX):c.955+39C>T	noncoding	Benign
19	13078675	A	G	A13078675G	NFIX	NM_002501.4(NFIX):c.1018A>G:p.Ser340Gly	coding	Benign
19	13081741	G	A	G13081741A	NFIX	NM_002501.4(NFIX):c.1140G>A:p.Ser380=	coding	Benign
19	13081837	G	A	G13081837A	NFIX	NM_002501.4(NFIX):c.1236G>A:p.Ser412=	coding	Benign
19	13107603	T	C	T13107603C	TRMT1	NM_001136035.4(TRMT1):c.1554A>G:p.Pro518=	coding	Benign
19	13107648	C	T	C13107648T	TRMT1	NM_001136035.4(TRMT1):c.1509G>A:p.Glu503=	coding	Benign
19	13107750	C	A	C13107750A	TRMT1	NM_017722.4(TRMT1):c.1506+1G>T	noncoding	Pathogenic
19	13109470	C	T	C13109470T	TRMT1	NM_001136035.4(TRMT1):c.1312-4G>A	noncoding	Benign
19	13109692	C	T	C13109692T	TRMT1	NM_001136035.4(TRMT1):c.1177-8G>A	noncoding	Benign
19	13109935	C	T	C13109935T	TRMT1	NM_001136035.4(TRMT1):c.1086G>A:p.Ala362=	coding	Benign
19	13109989	C	G	C13109989G	TRMT1	NM_001136035.4(TRMT1):c.1032G>C:p.Leu344=	coding	Benign
19	13112759	C	T	C13112759T	TRMT1	NM_001136035.4(TRMT1):c.816G>A:p.Thr272=	coding	Benign
19	13135414	G	A	G13135414A	NACC1	NM_052876.4(NACC1):c.207G>A:p.Leu69=	coding	Benign
19	13135489	G	A	G13135489A	NACC1	NM_052876.4(NACC1):c.282G>A:p.Val94=	coding	Benign
19	13135747	C	T	C13135747T	NACC1	NM_052876.4(NACC1):c.540C>T:p.Pro180=	coding	Benign
19	13135917	C	T	C13135917T	NACC1	NM_052876.4(NACC1):c.710C>T:p.Ala237Val	coding	Benign
19	13136099	C	T	C13136099T	NACC1	NM_052876.4(NACC1):c.892C>T:p.Arg298Trp	coding	Pathogenic/Likely_pathogenic
19	13136163	C	T	C13136163T	NACC1	NM_052876.4(NACC1):c.946+10C>T	noncoding	Benign
19	13136233	C	T	C13136233T	NACC1	NM_052876.4(NACC1):c.948C>T:p.Ala316=	coding	Benign
19	13137474	C	T	C13137474T	NACC1	NM_052876.4(NACC1):c.1227-4C>T	noncoding	Benign
19	13138208	C	T	C13138208T	NACC1	NM_052876.4(NACC1):c.1386C>T:p.Asp462=	coding	Benign
19	13138284	G	A	G13138284A	NACC1	NM_052876.4(NACC1):c.1462G>A:p.Ala488Thr	coding	Benign
19	13138362	A	G	A13138362G	NACC1	NM_052876.4(NACC1):c.1540A>G:p.Ser514Gly	coding	Benign
19	13153757	G	A	G13153757A	IER2	NM_004907.3(IER2):c.571G>A:p.Ala191Thr	coding	Benign
19	13207403	G	A	G13207403A	CACNA1A	NM_001127222.2(CACNA1A):c.7431C>T:p.Tyr2477=	coding	Benign
19	13207469	G	T	G13207469T	CACNA1A	NM_001127221.1(CACNA1A):c.*577C>A	coding	Benign
19	13207560	C	T	C13207560T	CACNA1A	NM_001127221.1(CACNA1A):c.*486G>A	coding	Benign
19	13207997	C	T	C13207997T	CACNA1A	NM_001127222.2(CACNA1A):c.6837G>A:p.Pro2279=	coding	Benign
19	13208500	C	G	C13208500G	CACNA1A	NM_001127222.2(CACNA1A):c.6780+256G>C	noncoding	Benign
19	13208852	A	C	A13208852C	CACNA1A	NM_001127222.2(CACNA1A):c.6684T>G:p.Tyr2228Ter	coding	Pathogenic
19	13208879	A	G	A13208879G	CACNA1A	NM_001127222.2(CACNA1A):c.6657T>C:p.His2219=	coding	Benign
19	13209228	C	T	C13209228T	CACNA1A	NM_001127222.2(CACNA1A):c.6526+84G>A	noncoding	Benign
19	13209355	G	A	G13209355A	CACNA1A	NM_001127222.2(CACNA1A):c.6483C>T:p.Arg2161=	coding	Benign/Likely_benign
19	13209370	G	A	G13209370A	CACNA1A	NM_001127222.2(CACNA1A):c.6468C>T:p.Arg2156=	coding	Benign/Likely_benign
19	13209441	G	A	G13209441A	CACNA1A	NM_001127222.2(CACNA1A):c.6397C>T:p.Arg2133Ter	coding	Pathogenic
19	13209460	G	A	G13209460A	CACNA1A	NM_001127222.2(CACNA1A):c.6378C>T:p.Ser2126=	coding	Benign
19	13209496	G	C	G13209496C	CACNA1A	NM_001127222.2(CACNA1A):c.6342C>G:p.Thr2114=	coding	Benign
19	13209690	C	T	C13209690T	CACNA1A	NM_001127222.2(CACNA1A):c.6340-192G>A	noncoding	Benign
19	13210308	A	C	A13210308C	CACNA1A	NM_001127222.2(CACNA1A):c.6339+309T>G	noncoding	Benign
19	13210607	C	G	C13210607G	CACNA1A	NM_001127222.2(CACNA1A):c.6339+10G>C	noncoding	Benign/Likely_benign
19	13212034	T	G	T13212034G	CACNA1A	NM_001127222.2(CACNA1A):c.6303+69A>C	noncoding	Benign
19	13212141	G	T	G13212141T	CACNA1A	NM_001127222.2(CACNA1A):c.6265C>A:p.Arg2089=	coding	Benign/Likely_benign
19	13212204	G	A	G13212204A	CACNA1A	NM_001127222.2(CACNA1A):c.6202C>T:p.Arg2068Ter	coding	Pathogenic
19	13212447	C	T	C13212447T	CACNA1A	NM_001127222.2(CACNA1A):c.6126G>A:p.Thr2042=	coding	Benign
19	13212653	G	A	G13212653A	CACNA1A	NM_001127222.2(CACNA1A):c.6028C>T:p.Gln2010Ter	coding	Pathogenic
19	13212687	T	C	T13212687C	CACNA1A	NM_001127222.2(CACNA1A):c.5994A>G:p.Glu1998=	coding	Benign
19	13212693	C	T	C13212693T	CACNA1A	NM_001127222.2(CACNA1A):c.5988G>A:p.Thr1996=	coding	Benign/Likely_benign
19	13212792	G	A	G13212792A	CACNA1A	NM_001127222.2(CACNA1A):c.5941-52C>T	noncoding	Benign
19	13214048	C	T	C13214048T	CACNA1A	NM_001127222.2(CACNA1A):c.5940+185G>A	noncoding	Benign
19	13214314	C	T	C13214314T	CACNA1A	NM_001127222.2(CACNA1A):c.5859G>A:p.Gly1953=	coding	Benign
19	13214415	G	C	G13214415C	CACNA1A	NM_001127222.2(CACNA1A):c.5840-82C>G	noncoding	Benign
19	13214583	G	A	G13214583A	CACNA1A	NM_001127222.2(CACNA1A):c.5757C>T:p.Asp1919=	coding	Benign/Likely_benign
19	13214601	G	A	G13214601A	CACNA1A	NM_001127222.2(CACNA1A):c.5739C>T:p.Ala1913=	coding	Benign
19	13214614	A	G	A13214614G	CACNA1A	NM_001127222.2(CACNA1A):c.5732-6T>C	noncoding	Benign
19	13214919	C	T	C13214919T	CACNA1A	NM_001127222.2(CACNA1A):c.5732-311G>A	noncoding	Benign
19	13224618	G	A	G13224618A	CACNA1A	NM_001127222.2(CACNA1A):c.5731+49C>T	noncoding	Benign
19	13224749	G	C	G13224749C	CACNA1A	NM_001127222.2(CACNA1A):c.5649C>G:p.Pro1883=	coding	Benign/Likely_benign
19	13227152	G	A	G13227152A	CACNA1A	NM_001127222.2(CACNA1A):c.5625+279C>T	noncoding	Benign
19	13228758	G	A	G13228758A	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1231C>T	coding	Pathogenic
19	13228795	G	T	G13228795T	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1268C>A	coding	Pathogenic
19	13228859	G	A	G13228859A	CACNA1A	NM_001127222.2(CACNA1A):c.5528+1223C>T	noncoding	Benign
19	13230102	G	A	G13230102A	CACNA1A	NM_001127222.2(CACNA1A):c.5508C>T:p.Ala1836=	coding	Benign/Likely_benign
19	13230158	G	A	G13230158A	CACNA1A	NM_001127222.2(CACNA1A):c.5452C>T:p.Arg1818Ter	coding	Pathogenic
19	13230185	T	G	T13230185G	CACNA1A	NM_001127222.2(CACNA1A):c.5425A>C:p.Ile1809Leu	coding	Pathogenic
19	13230223	G	A	G13230223A	CACNA1A	NM_001127222.2(CACNA1A):c.5401-14C>T	noncoding	Benign
19	13231717	G	A	G13231717A	CACNA1A	NM_001127222.2(CACNA1A):c.5393C>T:p.Ser1798Leu	coding	Pathogenic/Likely_pathogenic
19	13231842	A	G	A13231842G	CACNA1A	NM_001127222.2(CACNA1A):c.5268T>C:p.Ala1756=	coding	Benign/Likely_benign
19	13231847	C	T	C13231847T	CACNA1A	NM_001127222.2(CACNA1A):c.5263G>A:p.Glu1755Lys	coding	Pathogenic
19	13234712	G	A	G13234712A	CACNA1A	NM_001127222.2(CACNA1A):c.5249+209C>T	noncoding	Benign
19	13234843	C	A	C13234843A	CACNA1A	NM_001127222.2(CACNA1A):c.5249+78G>T	noncoding	Benign
19	13235219	A	G	A13235219G	CACNA1A	NM_001127222.2(CACNA1A):c.5123T>C:p.Ile1708Thr	coding	Pathogenic
19	13235227	A	C	A13235227C	CACNA1A	NM_001127222.2(CACNA1A):c.5115T>G:p.Tyr1705Ter	coding	Pathogenic
19	13235625	G	A	G13235625A	CACNA1A	NM_001127222.2(CACNA1A):c.5056C>T:p.Gln1686Ter	coding	Pathogenic
19	13235666	C	G	C13235666G	CACNA1A	NM_001127222.2(CACNA1A):c.5015G>C:p.Arg1672Pro	coding	Pathogenic/Likely_pathogenic
19	13235685	G	A	G13235685A	CACNA1A	NM_001127222.2(CACNA1A):c.4996C>T:p.Arg1666Trp	coding	Pathogenic/Likely_pathogenic
19	13235694	G	A	G13235694A	CACNA1A	NM_001127222.2(CACNA1A):c.4987C>T:p.Arg1663Ter	coding	Pathogenic
19	13241520	C	A	C13241520A	CACNA1A	NM_000068.4(CACNA1A):c.4968+1G>T	noncoding	Pathogenic
19	13245181	C	A	C13245181A	CACNA1A	NM_001127222.2(CACNA1A):c.4950+1G>T	noncoding	Pathogenic
19	13245206	G	A	G13245206A	CACNA1A	NM_001127222.2(CACNA1A):c.4926C>T:p.Thr1642=	coding	Benign/Likely_benign
19	13245336	T	G	T13245336G	CACNA1A	NM_001127222.2(CACNA1A):c.4867-71A>C	noncoding	Benign
19	13245566	T	C	T13245566C	CACNA1A	NM_001127222.2(CACNA1A):c.4867-301A>G	noncoding	Benign
19	13253198	C	T	C13253198T	CACNA1A	NM_001127222.2(CACNA1A):c.4756-97G>A	noncoding	Benign
19	13255206	C	T	C13255206T	CACNA1A	NM_001127222.2(CACNA1A):c.4644G>A:p.Pro1548=	coding	Benign/Likely_benign
19	13255217	G	A	G13255217A	CACNA1A	NM_001127222.2(CACNA1A):c.4633C>T:p.Arg1545Ter	coding	Pathogenic/Likely_pathogenic
19	13255218	G	A	G13255218A	CACNA1A	NM_001127222.2(CACNA1A):c.4632C>T:p.Thr1544=	coding	Benign/Likely_benign
19	13255268	G	C	G13255268C	CACNA1A	NM_001127222.2(CACNA1A):c.4591-9C>G	noncoding	Benign/Likely_benign
19	13257421	C	A	C13257421A	CACNA1A	NM_001127222.2(CACNA1A):c.4519G>T:p.Ala1507Ser	coding	Pathogenic
19	13257474	A	G	A13257474G	CACNA1A	NM_001127222.2(CACNA1A):c.4466T>C:p.Phe1489Ser	coding	Pathogenic
19	13257510	C	T	C13257510T	CACNA1A	NM_001127222.2(CACNA1A):c.4430G>A:p.Gly1477Asp	coding	Pathogenic
19	13257514	G	A	G13257514A	CACNA1A	NM_001127222.2(CACNA1A):c.4426C>T:p.Gln1476Ter	coding	Pathogenic
19	13257536	C	T	C13257536T	CACNA1A	NM_001127222.2(CACNA1A):c.4404G>A:p.Ser1468=	coding	Benign
19	13257552	C	G	C13257552G	CACNA1A	NM_001127222.2(CACNA1A):c.4389-1G>C	coding	Pathogenic
19	13259589	C	A	C13259589A	CACNA1A	NM_001127222.2(CACNA1A):c.4363G>T:p.Val1455Leu	coding	Pathogenic
19	13259590	G	A	G13259590A	CACNA1A	NM_001127222.2(CACNA1A):c.4362C>T:p.Thr1454=	coding	Benign
19	13259641	C	T	C13259641T	CACNA1A	NM_001127222.2(CACNA1A):c.4311G>A:p.Lys1437=	coding	Benign/Likely_benign
19	13259661	G	A	G13259661A	CACNA1A	NM_001127222.2(CACNA1A):c.4291C>T:p.Arg1431Ter	coding	Pathogenic
19	13261451	G	A	G13261451A	CACNA1A	NM_001127222.2(CACNA1A):c.4249C>T:p.Arg1417Ter	coding	Pathogenic
19	13261495	A	C	A13261495C	CACNA1A	NM_001127222.2(CACNA1A):c.4205T>G:p.Phe1402Cys	coding	Pathogenic
19	13261526	C	G	C13261526G	CACNA1A	NM_001127222.2(CACNA1A):c.4174G>C:p.Val1392Leu	coding	Pathogenic
19	13261526	C	T	C13261526T	CACNA1A	NM_023035.3(CACNA1A):c.4186G>A:p.Val1396Met	coding	Pathogenic/Likely_pathogenic
19	13261552	T	C	T13261552C	CACNA1A	NM_001127222.2(CACNA1A):c.4148A>G:p.Tyr1383Cys	coding	Pathogenic
19	13261604	A	T	A13261604T	CACNA1A	NM_001127222.2(CACNA1A):c.4096T>A:p.Phe1366Ile	coding	Pathogenic
19	13261775	C	T	C13261775T	CACNA1A	NM_001127222.2(CACNA1A):c.4090-165G>A	noncoding	Benign
19	13261817	A	C	A13261817C	CACNA1A	NM_001127222.2(CACNA1A):c.4090-207T>G	noncoding	Benign
19	13262663	A	G	A13262663G	CACNA1A	NM_001127222.2(CACNA1A):c.4089+71T>C	noncoding	Benign
19	13262732	A	C	A13262732C	CACNA1A	NM_001127222.2(CACNA1A):c.4089+2T>G	noncoding	Pathogenic
19	13262751	G	A	G13262751A	CACNA1A	NM_001127222.2(CACNA1A):c.4072C>T:p.Arg1358Trp	coding	Pathogenic/Likely_pathogenic
19	13262756	A	C	A13262756C	CACNA1A	NM_001127222.2(CACNA1A):c.4067T>G:p.Ile1356Ser	coding	Pathogenic
19	13262759	G	T	G13262759T	CACNA1A	NM_001127222.2(CACNA1A):c.4064C>A:p.Thr1355Asn	coding	Pathogenic
19	13262772	G	A	G13262772A	CACNA1A	NM_001127222.2(CACNA1A):c.4051C>T:p.Arg1351Ter	coding	Pathogenic
19	13262780	C	T	C13262780T	CACNA1A	NM_001127222.2(CACNA1A):c.4043G>A:p.Arg1348Gln	coding	Pathogenic
19	13262789	C	T	C13262789T	CACNA1A	NM_001127222.2(CACNA1A):c.4034G>A:p.Arg1345Gln	coding	Pathogenic
19	13262790	G	A	G13262790A	CACNA1A	NM_001127222.2(CACNA1A):c.4033C>T:p.Arg1345Ter	coding	Pathogenic
19	13275834	T	C	T13275834C	CACNA1A	NM_001127222.2(CACNA1A):c.3989+16A>G	noncoding	Benign
19	13275837	C	A	C13275837A	CACNA1A	NM_001127222.2(CACNA1A):c.3989+13G>T	noncoding	Benign
19	13275849	C	T	C13275849T	CACNA1A	NM_001127221.1(CACNA1A):c.3992+1G>A	noncoding	Pathogenic
19	13276046	C	T	C13276046T	CACNA1A	NM_001127222.2(CACNA1A):c.3883-90G>A	noncoding	Benign
19	13277090	A	G	A13277090G	CACNA1A	NM_001127222.2(CACNA1A):c.3861T>C:p.Phe1287=	coding	Benign
19	13277108	G	C	G13277108C	CACNA1A	NM_001127222.2(CACNA1A):c.3843C>G:p.Tyr1281Ter	coding	Pathogenic
19	13277122	G	A	G13277122A	CACNA1A	NM_001127222.2(CACNA1A):c.3829C>T:p.Arg1277Ter	coding	Pathogenic
19	13277423	C	A	C13277423A	CACNA1A	NM_001127222.2(CACNA1A):c.3823-295G>T	noncoding	Benign
19	13283266	C	T	C13283266T	CACNA1A	NM_001127222.2(CACNA1A):c.3822+1G>A	noncoding	Pathogenic
19	13283503	C	T	C13283503T	CACNA1A	NM_001127222.2(CACNA1A):c.3693-107G>A	noncoding	Benign
19	13283523	A	G	A13283523G	CACNA1A	NM_001127222.2(CACNA1A):c.3693-127T>C	noncoding	Benign
19	13284912	C	T	C13284912T	CACNA1A	NM_001127222.2(CACNA1A):c.3692+156G>A	noncoding	Benign
19	13285067	C	A	C13285067A	CACNA1A	NM_001127221.1(CACNA1A):c.3695+1G>T	noncoding	Pathogenic
19	13285076	C	T	C13285076T	CACNA1A	NM_001127222.2(CACNA1A):c.3684G>A:p.Thr1228=	coding	Benign/Likely_benign
19	13286510	G	A	G13286510A	CACNA1A	NM_001127222.2(CACNA1A):c.3546C>T:p.Val1182=	coding	Benign
19	13286599	G	A	G13286599A	CACNA1A	NM_001127222.2(CACNA1A):c.3457C>T:p.Gln1153Ter	coding	Pathogenic
19	13286672	C	T	C13286672T	CACNA1A	NM_001127222.2(CACNA1A):c.3384G>A:p.Pro1128=	coding	Benign/Likely_benign
19	13286746	C	T	C13286746T	CACNA1A	NM_001127222.2(CACNA1A):c.3310G>A:p.Gly1104Ser	coding	Benign
19	13286752	C	T	C13286752T	CACNA1A	NM_001127222.2(CACNA1A):c.3304G>A:p.Asp1102Asn	coding	Benign/Likely_benign
19	13286819	G	A	G13286819A	CACNA1A	NM_001127222.2(CACNA1A):c.3237C>T:p.Ala1079=	coding	Benign
19	13286902	G	A	G13286902A	CACNA1A	NM_001127222.2(CACNA1A):c.3154C>T:p.Gln1052Ter	coding	Pathogenic
19	13298543	C	T	C13298543T	CACNA1A	NM_001127222.2(CACNA1A):c.3089+1G>A	noncoding	Pathogenic
19	13298576	C	T	C13298576T	CACNA1A	NM_001127222.2(CACNA1A):c.3057G>A:p.Arg1019=	coding	Benign
19	13298605	G	C	G13298605C	CACNA1A	NM_001127222.2(CACNA1A):c.3028C>G:p.Pro1010Ala	coding	Benign
19	13298658	T	A	T13298658A	CACNA1A	NM_001127222.2(CACNA1A):c.2975A>T:p.Glu992Val	coding	Benign
19	13298678	C	G	C13298678G	CACNA1A	NM_001127222.2(CACNA1A):c.2955G>C:p.Pro985=	coding	Benign/Likely_benign
19	13298789	G	C	G13298789C	CACNA1A	NM_001127222.2(CACNA1A):c.2844C>G:p.Arg948=	coding	Benign/Likely_benign
19	13298807	G	A	G13298807A	CACNA1A	NM_001127222.2(CACNA1A):c.2826C>T:p.Ser942=	coding	Benign
19	13298810	C	T	C13298810T	CACNA1A	NM_001127222.2(CACNA1A):c.2823G>A:p.Glu941=	coding	Benign/Likely_benign
19	13298827	G	A	G13298827A	CACNA1A	NM_001127222.2(CACNA1A):c.2806C>T:p.Gln936Ter	coding	Pathogenic
19	13298878	C	A	C13298878A	CACNA1A	NM_001127222.2(CACNA1A):c.2755G>T:p.Glu919Ter	coding	Pathogenic
19	13298882	C	G	C13298882G	CACNA1A	NM_001127222.2(CACNA1A):c.2751G>C:p.Glu917Asp	coding	Benign
19	13298894	G	A	G13298894A	CACNA1A	NM_001127222.2(CACNA1A):c.2739C>T:p.Pro913=	coding	Benign
19	13298896	G	A	G13298896A	CACNA1A	NM_001127222.2(CACNA1A):c.2737C>T:p.Pro913Ser	coding	Benign/Likely_benign
19	13298899	G	A	G13298899A	CACNA1A	NM_001127222.2(CACNA1A):c.2734C>T:p.Gln912Ter	coding	Pathogenic
19	13298955	C	T	C13298955T	CACNA1A	NM_001127222.2(CACNA1A):c.2678G>A:p.Arg893Gln	coding	Benign/Likely_benign
19	13299082	G	A	G13299082A	CACNA1A	NM_001127222.2(CACNA1A):c.2551C>T:p.Gln851Ter	coding	Pathogenic/Likely_pathogenic
19	13299094	G	A	G13299094A	CACNA1A	NM_001127222.2(CACNA1A):c.2539C>T:p.Gln847Ter	coding	Pathogenic
19	13299109	C	A	C13299109A	CACNA1A	NM_001127222.2(CACNA1A):c.2524G>T:p.Glu842Ter	coding	Pathogenic
19	13299225	C	T	C13299225T	CACNA1A	NM_001127222.2(CACNA1A):c.2408G>A:p.Trp803Ter	coding	Pathogenic
19	13299421	G	T	G13299421T	CACNA1A	NM_001127222.2(CACNA1A):c.2280-68C>A	noncoding	Benign
19	13299565	G	A	G13299565A	CACNA1A	NM_001127222.2(CACNA1A):c.2280-212C>T	noncoding	Benign
19	13300627	G	T	G13300627T	CACNA1A	NM_001127222.2(CACNA1A):c.2202C>A:p.Asn734Lys	coding	Benign
19	13300637	T	G	T13300637G	CACNA1A	NM_001127222.2(CACNA1A):c.2192A>C:p.Glu731Ala	coding	Benign
19	13300638	C	A	C13300638A	CACNA1A	NM_001127222.2(CACNA1A):c.2191G>T:p.Glu731Ter	coding	Pathogenic
19	13300668	G	A	G13300668A	CACNA1A	NM_001127222.2(CACNA1A):c.2173-12C>T	noncoding	Benign
19	13303576	G	T	G13303576T	CACNA1A	NM_001127222.2(CACNA1A):c.2142C>A:p.Asp714Glu	coding	Pathogenic
19	13303580	A	G	A13303580G	CACNA1A	NM_001127222.2(CACNA1A):c.2138T>C:p.Val713Ala	coding	Pathogenic
19	13303584	C	T	C13303584T	CACNA1A	NM_001127222.2(CACNA1A):c.2134G>A:p.Ala712Thr	coding	Pathogenic/Likely_pathogenic
19	13303587	T	C	T13303587C	CACNA1A	NM_001127222.2(CACNA1A):c.2131A>G:p.Ile711Val	coding	Pathogenic/Likely_pathogenic
19	13303588	G	C	G13303588C	CACNA1A	NM_001127222.2(CACNA1A):c.2130C>G:p.Ala710=	coding	Benign
19	13303591	C	A	C13303591A	CACNA1A	NM_001127222.2(CACNA1A):c.2127G>T:p.Leu709Phe	coding	Pathogenic
19	13303780	C	T	C13303780T	CACNA1A	NM_001127222.2(CACNA1A):c.2091G>A:p.Thr697=	coding	Benign
19	13303849	G	T	G13303849T	CACNA1A	NM_001127222.2(CACNA1A):c.2022C>A:p.Tyr674Ter	coding	Pathogenic
19	13303865	C	T	C13303865T	CACNA1A	NM_001127222.2(CACNA1A):c.2006G>A:p.Trp669Ter	coding	Pathogenic/Likely_pathogenic
19	13303872	C	T	C13303872T	CACNA1A	NM_001127222.2(CACNA1A):c.1999G>A:p.Glu667Lys	coding	Pathogenic
19	13303876	C	T	C13303876T	CACNA1A	NM_001127222.2(CACNA1A):c.1995G>A:p.Thr665=	coding	Benign/Likely_benign
19	13303877	G	A	G13303877A	CACNA1A	NM_001127222.2(CACNA1A):c.1994C>T:p.Thr665Met	coding	Pathogenic
19	13307785	A	G	A13307785G	CACNA1A	NM_001127222.2(CACNA1A):c.1983T>C:p.Phe661=	coding	Benign/Likely_benign
19	13307858	C	T	C13307858T	CACNA1A	NM_001127222.2(CACNA1A):c.1914-4G>A	noncoding	Benign/Likely_benign
19	13307893	C	T	C13307893T	CACNA1A	NM_001127222.2(CACNA1A):c.1914-39G>A	noncoding	Benign
19	13308121	G	A	G13308121A	CACNA1A	NM_001127222.2(CACNA1A):c.1912C>T:p.Gln638Ter	coding	Pathogenic
19	13308128	G	A	G13308128A	CACNA1A	NM_001127222.2(CACNA1A):c.1905C>T:p.Phe635=	coding	Benign/Likely_benign
19	13308271	G	A	G13308271A	CACNA1A	NM_001127222.2(CACNA1A):c.1782-20C>T	noncoding	Benign
19	13308398	G	T	G13308398T	CACNA1A	NM_001127222.2(CACNA1A):c.1781+18C>A	noncoding	Benign
19	13308421	G	C	G13308421C	CACNA1A	NM_001127222.2(CACNA1A):c.1776C>G:p.Val592=	coding	Benign
19	13308452	C	T	C13308452T	CACNA1A	NM_001127222.2(CACNA1A):c.1745G>A:p.Arg582Gln	coding	Pathogenic
19	13308453	G	A	G13308453A	CACNA1A	NM_001127222.2(CACNA1A):c.1744C>T:p.Arg582Ter	coding	Pathogenic
19	13308496	C	T	C13308496T	CACNA1A	NM_001127222.2(CACNA1A):c.1701G>A:p.Trp567Ter	coding	Pathogenic
19	13308499	G	A	G13308499A	CACNA1A	NM_001127222.2(CACNA1A):c.1698C>T:p.Ile566=	coding	Benign
19	13312702	G	T	G13312702T	CACNA1A	NM_001127222.2(CACNA1A):c.1635C>A:p.Tyr545Ter	coding	Pathogenic
19	13312711	C	T	C13312711T	CACNA1A	NM_001127222.2(CACNA1A):c.1626G>A:p.Thr542=	coding	Benign
19	13312723	G	A	G13312723A	CACNA1A	NM_001127222.2(CACNA1A):c.1614C>T:p.Tyr538=	coding	Benign/Likely_benign
19	13312765	A	T	A13312765T	CACNA1A	NM_001127222.2(CACNA1A):c.1572T>A:p.Ile524=	coding	Benign/Likely_benign
19	13312777	A	C	A13312777C	CACNA1A	NM_001127222.2(CACNA1A):c.1560T>G:p.Tyr520Ter	coding	Pathogenic
19	13312874	A	T	A13312874T	CACNA1A	NM_001127222.2(CACNA1A):c.1556-93T>A	noncoding	Benign
19	13316853	C	T	C13316853T	CACNA1A	NM_001127222.2(CACNA1A):c.1555+259G>A	noncoding	Benign
19	13316929	T	G	T13316929G	CACNA1A	NM_001127222.2(CACNA1A):c.1555+183A>C	noncoding	Benign
19	13316950	C	T	C13316950T	CACNA1A	NM_001127222.2(CACNA1A):c.1555+162G>A	noncoding	Benign
19	13316991	G	A	G13316991A	CACNA1A	NM_001127222.2(CACNA1A):c.1555+121C>T	noncoding	Benign
19	13317129	C	T	C13317129T	CACNA1A	NM_001127222.2(CACNA1A):c.1538G>A:p.Trp513Ter	coding	Pathogenic
19	13317149	A	G	A13317149G	CACNA1A	NM_001127222.2(CACNA1A):c.1518T>C:p.Val506=	coding	Benign
19	13317167	C	T	C13317167T	CACNA1A	NM_001127222.2(CACNA1A):c.1500G>A:p.Thr500=	coding	Benign/Likely_benign
19	13317168	G	A	G13317168A	CACNA1A	NM_001127222.2(CACNA1A):c.1499C>T:p.Thr500Met	coding	Pathogenic
19	13317198	C	T	C13317198T	CACNA1A	NM_001127222.2(CACNA1A):c.1469G>A:p.Trp490Ter	coding	Pathogenic
19	13317233	G	C	G13317233C	CACNA1A	NM_001127222.2(CACNA1A):c.1434C>G:p.Tyr478Ter	coding	Pathogenic
19	13317299	G	A	G13317299A	CACNA1A	NM_001127222.2(CACNA1A):c.1368C>T:p.Ser456=	coding	Benign/Likely_benign
19	13317307	G	A	G13317307A	CACNA1A	NM_001127222.2(CACNA1A):c.1360C>T:p.Arg454Ter	coding	Pathogenic
19	13317310	C	T	C13317310T	CACNA1A	NM_001127222.2(CACNA1A):c.1357G>A:p.Ala453Thr	coding	Benign/Likely_benign
19	13330168	C	T	C13330168T	CACNA1A	NM_001127222.2(CACNA1A):c.1345+76G>A	noncoding	Benign
19	13330237	G	A	G13330237A	CACNA1A	NM_001127222.2(CACNA1A):c.1345+7C>T	noncoding	Benign/Likely_benign
19	13330527	A	C	A13330527C	CACNA1A	NM_001127222.2(CACNA1A):c.1256-194T>G	noncoding	Benign
19	13330527	A	T	A13330527T	CACNA1A	NM_001127222.2(CACNA1A):c.1256-194T>A	noncoding	Benign
19	13330557	G	T	G13330557T	CACNA1A	NM_001127222.2(CACNA1A):c.1256-224C>A	noncoding	Benign
19	13330573	A	G	A13330573G	CACNA1A	NM_001127222.2(CACNA1A):c.1256-240T>C	noncoding	Benign
19	13332737	A	G	A13332737G	CACNA1A	NM_001127222.2(CACNA1A):c.1255+132T>C	noncoding	Benign
19	13332942	C	G	C13332942G	CACNA1A	NM_001127222.2(CACNA1A):c.1199-17G>C	noncoding	Benign
19	13333119	T	C	T13333119C	CACNA1A	NM_001127222.2(CACNA1A):c.1199-194A>G	noncoding	Benign
19	13334050	T	A	T13334050A	CACNA1A	NM_001127222.2(CACNA1A):c.1198+328A>T	noncoding	Benign
19	13334052	A	T	A13334052T	CACNA1A	NM_001127222.2(CACNA1A):c.1198+326T>A	noncoding	Benign
19	13334060	C	T	C13334060T	CACNA1A	NM_001127222.2(CACNA1A):c.1198+318G>A	noncoding	Benign
19	13334077	C	G	C13334077G	CACNA1A	NM_001127222.2(CACNA1A):c.1198+301G>C	noncoding	Benign
19	13334210	A	G	A13334210G	CACNA1A	NM_001127222.2(CACNA1A):c.1198+168T>C	noncoding	Benign
19	13334330	C	T	C13334330T	CACNA1A	NM_001127222.2(CACNA1A):c.1198+48G>A	noncoding	Benign
19	13334394	C	T	C13334394T	CACNA1A	NM_001127222.2(CACNA1A):c.1182G>A:p.Glu394=	coding	Benign
19	13334497	G	C	G13334497C	CACNA1A	NM_001127222.2(CACNA1A):c.1083-4C>G	noncoding	Benign/Likely_benign
19	13334759	G	A	G13334759A	CACNA1A	NM_001127222.2(CACNA1A):c.1083-266C>T	noncoding	Benign
19	13335498	A	G	A13335498G	CACNA1A	NM_001127222.2(CACNA1A):c.1082+308T>C	noncoding	Benign
19	13335805	C	T	C13335805T	CACNA1A	NM_001127222.2(CACNA1A):c.1082+1G>A	noncoding	Pathogenic
19	13336152	T	C	T13336152C	CACNA1A	NM_001127222.2(CACNA1A):c.979-243A>G	noncoding	Benign
19	13359680	C	T	C13359680T	CACNA1A	NM_001127222.2(CACNA1A):c.904G>A:p.Asp302Asn	coding	Pathogenic/Likely_pathogenic
19	13359696	G	A	G13359696A	CACNA1A	NM_001127222.2(CACNA1A):c.888C>T:p.Asn296=	coding	Benign/Likely_benign
19	13359707	C	T	C13359707T	CACNA1A	NM_001127222.2(CACNA1A):c.877G>A:p.Gly293Arg	coding	Pathogenic
19	13359708	T	C	T13359708C	CACNA1A	NM_001127222.2(CACNA1A):c.876A>G:p.Glu292=	coding	Benign
19	13359724	C	T	C13359724T	CACNA1A	NM_001127222.2(CACNA1A):c.860G>A:p.Cys287Tyr	coding	Pathogenic
19	13359788	C	T	C13359788T	CACNA1A	NM_001127222.2(CACNA1A):c.796G>A:p.Gly266Ser	coding	Benign/Likely_benign
19	13365004	G	A	G13365004A	CACNA1A	NM_001127222.2(CACNA1A):c.784+313C>T	noncoding	Benign
19	13365307	G	A	G13365307A	CACNA1A	NM_001127222.2(CACNA1A):c.784+10C>T	noncoding	Benign/Likely_benign
19	13365447	C	G	C13365447G	CACNA1A	NM_001127222.2(CACNA1A):c.654G>C:p.Ser218=	coding	Benign/Likely_benign
19	13365448	G	A	G13365448A	CACNA1A	NM_001127222.2(CACNA1A):c.653C>T:p.Ser218Leu	coding	Pathogenic
19	13371727	G	A	G13371727A	CACNA1A	NM_001127222.2(CACNA1A):c.592C>T:p.Arg198Ter	coding	Pathogenic
19	13371740	C	T	C13371740T	CACNA1A	NM_001127222.2(CACNA1A):c.579G>A:p.Thr193=	coding	Benign
19	13371744	C	T	C13371744T	CACNA1A	NM_001127222.2(CACNA1A):c.575G>A:p.Arg192Gln	coding	Pathogenic
19	13452953	G	A	G13452953A	CACNA1A	NM_001127222.2(CACNA1A):c.462C>T:p.Ala154=	coding	Benign
19	13452976	C	T	C13452976T	CACNA1A	NM_001127222.2(CACNA1A):c.439G>A:p.Glu147Lys	coding	Pathogenic
19	13453138	C	A	C13453138A	CACNA1A	NM_001127222.2(CACNA1A):c.400-123G>T	noncoding	Benign
19	13453188	G	A	G13453188A	CACNA1A	NM_001127222.2(CACNA1A):c.400-173C>T	noncoding	Benign
19	13455205	C	G	C13455205G	CACNA1A	NM_001127222.2(CACNA1A):c.301G>C:p.Glu101Gln	coding	Pathogenic
19	13455218	G	A	G13455218A	CACNA1A	NM_001127222.2(CACNA1A):c.294-6C>T	noncoding	Benign/Likely_benign
19	13505655	T	C	T13505655C	CACNA1A	NM_001127222.2(CACNA1A):c.293+277A>G	noncoding	Benign
19	13505879	C	T	C13505879T	CACNA1A	NM_001127222.2(CACNA1A):c.293+53G>A	noncoding	Benign
19	13506163	G	A	G13506163A	CACNA1A	NM_001127222.2(CACNA1A):c.62C>T:p.Ala21Val	coding	Benign
19	13764607	C	T	C13764607T	MRI1	NM_001031727.4(MRI1):c.19C>T:p.Arg7Cys	coding	Benign
19	13768716	A	G	A13768716G	MRI1	NM_001031727.4(MRI1):c.703A>G:p.Met235Val	coding	Benign
19	13772146	C	T	C13772146T	MRI1	NM_001031727.4(MRI1):c.975C>T:p.Phe325=	coding	Benign
19	13813142	G	A	G13813142A	ZSWIM4	NM_023072.3(ZSWIM4):c.1158G>A:p.Gln386=	coding	Benign
19	13912378	G	A	G13912378A	CC2D1A	NM_017721.5(CC2D1A):c.252G>A:p.Pro84=	coding	Benign
19	13912524	G	A	G13912524A	CC2D1A	NM_017721.5(CC2D1A):c.313-4G>A	noncoding	Benign
19	13913456	C	T	C13913456T	CC2D1A	NM_017721.5(CC2D1A):c.566C>T:p.Ala189Val	coding	Benign/Likely_benign
19	13913639	G	T	G13913639T	CC2D1A	NM_017721.5(CC2D1A):c.748+1G>T	coding	Pathogenic
19	13918779	C	T	C13918779T	CC2D1A	NM_017721.5(CC2D1A):c.980C>T:p.Ser327Leu	coding	Benign/Likely_benign
19	13918814	A	C	A13918814C	CC2D1A	NM_017721.5(CC2D1A):c.1015A>C:p.Thr339Pro	coding	Benign
19	13919876	T	C	T13919876C	CC2D1A	NM_017721.5(CC2D1A):c.1281T>C:p.Gly427=	coding	Benign
19	13920599	C	G	C13920599G	CC2D1A	NM_017721.5(CC2D1A):c.1399C>G:p.Pro467Ala	coding	Benign
19	13920649	C	G	C13920649G	CC2D1A	NM_017721.5(CC2D1A):c.1449C>G:p.Pro483=	coding	Benign/Likely_benign
19	13920802	C	T	C13920802T	CC2D1A	NM_017721.5(CC2D1A):c.1521C>T:p.Ala507=	coding	Benign/Likely_benign
19	13920892	G	A	G13920892A	CC2D1A	NM_017721.5(CC2D1A):c.1611G>A:p.Ser537=	coding	Benign
19	13920915	T	C	T13920915C	CC2D1A	NM_017721.5(CC2D1A):c.1634T>C:p.Ile545Thr	coding	Benign
19	13923325	C	T	C13923325T	CC2D1A	NM_017721.5(CC2D1A):c.1642-8C>T	noncoding	Benign
19	13923442	G	A	G13923442A	CC2D1A	NM_017721.5(CC2D1A):c.1751G>A:p.Arg584Gln	coding	Benign
19	13926550	C	T	C13926550T	CC2D1A	NM_017721.5(CC2D1A):c.1974C>T:p.Leu658=	coding	Benign/Likely_benign
19	13926835	A	G	A13926835G	CC2D1A	NM_017721.5(CC2D1A):c.2088A>G:p.Lys696=	coding	Benign/Likely_benign
19	13927918	G	T	G13927918T	CC2D1A	NM_017721.5(CC2D1A):c.2342G>T:p.Gly781Val	coding	Benign
19	13927978	C	T	C13927978T	CC2D1A	NM_017721.5(CC2D1A):c.2402C>T:p.Thr801Met	coding	Benign
19	13928006	C	G	C13928006G	CC2D1A	NM_017721.5(CC2D1A):c.2430C>G:p.Asp810Glu	coding	Benign/Likely_benign
19	13930083	G	A	G13930083A	CC2D1A	NM_017721.5(CC2D1A):c.2716G>A:p.Ala906Thr	coding	Benign
19	13956004	C	T	C13956004T	DCAF15	NM_138353.3(DCAF15):c.459C>T:p.Ile153=	coding	Benign
19	13963118	G	A	G13963118A	RFX1	NM_002918.5(RFX1):c.2724+4C>T	noncoding	Benign
19	13963151	C	T	C13963151T	RFX1	NM_002918.5(RFX1):c.2695G>A:p.Gly899Ser	coding	Benign
19	13963975	C	T	C13963975T	RFX1	NM_002918.5(RFX1):c.2244G>A:p.Leu748=	coding	Benign
19	13965456	C	T	C13965456T	RFX1	NM_002918.5(RFX1):c.2204G>A:p.Arg735Gln	coding	Benign
19	13965494	G	A	G13965494A	RFX1	NM_002918.5(RFX1):c.2166C>T:p.Leu722=	coding	Benign
19	13965494	G	C	G13965494C	RFX1	NM_002918.5(RFX1):c.2166C>G:p.Leu722=	coding	Benign
19	13968622	G	A	G13968622A	RFX1	NM_002918.5(RFX1):c.1675C>T:p.Pro559Ser	coding	Benign
19	13973025	G	A	G13973025A	RFX1	NM_002918.5(RFX1):c.1032C>T:p.Pro344=	coding	Benign
19	13980591	A	G	A13980591G	RFX1	NM_002918.5(RFX1):c.720T>C:p.Ser240=	coding	Benign
19	13982157	C	T	C13982157T	RFX1	NM_002918.5(RFX1):c.585G>A:p.Thr195=	coding	Benign
19	13982187	T	C	T13982187C	RFX1	NM_002918.5(RFX1):c.555A>G:p.Pro185=	coding	Benign
19	13982195	C	T	C13982195T	RFX1	NM_002918.5(RFX1):c.547G>A:p.Ala183Thr	coding	Benign
19	14042460	C	T	C14042460T	IL27RA	NM_004843.4(IL27RA):c.542C>T:p.Pro181Leu	coding	Benign
19	14046346	C	G	C14046346G	IL27RA	NM_004843.4(IL27RA):c.952+9C>G	noncoding	Benign
19	14048994	C	T	C14048994T	IL27RA	NM_004843.4(IL27RA):c.1155C>T:p.Val385=	coding	Benign
19	14051928	A	G	A14051928G	IL27RA	NM_004843.4(IL27RA):c.1671A>G:p.Lys557=	coding	Benign
19	14053845	G	A	G14053845A	PALM3	NM_001145028.2(PALM3):c.1827C>T:p.Thr609=	coding	Benign
19	14055061	C	A	C14055061A	PALM3	NM_001145028.2(PALM3):c.611G>T:p.Ser204Ile	coding	Benign
19	14093715	G	C	G14093715C	PRKACA	NM_002730.4(PRKACA):c.843C>G:p.Arg281=	coding	Benign
19	14097604	A	C	A14097604C	PRKACA	NM_002730.3(PRKACA):c.617T>G:p.Leu206Arg	coding	Pathogenic/Likely_pathogenic
19	14100864	C	T	C14100864T	PRKACA	NM_002730.4(PRKACA):c.381G>A:p.Gly127=	coding	Benign
19	14107354	G	A	G14107354A	PRKACA	NM_002730.4(PRKACA):c.102C>T:p.Pro34=	coding	Benign
19	14161564	T	A	T14161564A	ADGRL1	NM_001008701.3(ADGRL1):c.1273A>T:p.Thr425Ser	coding	Benign
19	14401690	C	T	C14401690T	ADGRE5	NM_078481.4(ADGRE5):c.1113C>T:p.Asn371=	coding	Benign
19	14401770	G	A	G14401770A	ADGRE5	NM_078481.4(ADGRE5):c.1183+10G>A	noncoding	Benign
19	14406414	G	A	G14406414A	ADGRE5	NM_078481.4(ADGRE5):c.1905G>A:p.Leu635=	coding	Benign
19	14413176	T	C	T14413176C	DDX39A	NM_005804.4(DDX39A):c.45A>G:p.Glu15=	coding	Benign
19	14443582	G	A	G14443582A	PKN1	NM_002741.5(PKN1):c.435G>A:p.Ala145=	coding	Benign
19	14458382	C	A	C14458382A	PKN1	NM_002741.5(PKN1):c.1419+7C>A	noncoding	Benign
19	14463952	C	T	C14463952T	PKN1	NM_002741.5(PKN1):c.1620C>T:p.Ser540=	coding	Benign
19	14464085	C	A	C14464085A	PKN1	NM_002741.5(PKN1):c.1663C>A:p.Leu555Ile	coding	Benign
19	14471772	C	T	C14471772T	PKN1	NM_002741.5(PKN1):c.2817C>T:p.Ala939=	coding	Benign
19	14479503	G	A	G14479503A	GIPC1	NM_005716.4(GIPC1):c.677C>T:p.Ala226Val	coding	Benign
19	14516099	A	G	A14516099G	DNAJB1	NM_006145.3(DNAJB1):c.864T>C:p.Val288=	coding	Benign
19	14516147	G	A	G14516147A	DNAJB1	NM_006145.3(DNAJB1):c.816C>T:p.Asn272=	coding	Benign
19	14518308	G	C	G14518308C	DNAJB1	NM_006145.3(DNAJB1):c.42C>G:p.Gly14=	coding	Benign
19	14564841	C	T	C14564841T	TECR	NM_138501.6(TECR):c.545C>T:p.Pro182Leu	coding	Pathogenic
19	14565638	C	T	C14565638T	TECR	NM_138501.6(TECR):c.774C>T:p.Phe258=	coding	Benign
19	14565673	C	T	C14565673T	TECR	NM_138501.6(TECR):c.799+10C>T	noncoding	Benign
19	14565757	C	T	C14565757T	TECR	NM_138501.6(TECR):c.813C>T:p.Ser271=	coding	Benign
19	14746908	G	A	G14746908A	ADGRE2	NM_013447.4(ADGRE2):c.2079C>T:p.Cys693=	coding	Benign
19	14751574	C	T	C14751574T	ADGRE2	NM_013447.4(ADGRE2):c.1886G>A:p.Arg629Gln	coding	Benign
19	14752319	C	T	C14752319T	ADGRE2	NM_013447.4(ADGRE2):c.1788+10G>A	noncoding	Benign
19	14752464	G	A	G14752464A	ADGRE2	NM_013447.4(ADGRE2):c.1653C>T:p.Leu551=	coding	Benign
19	14752493	T	C	T14752493C	ADGRE2	NM_013447.4(ADGRE2):c.1624A>G:p.Met542Val	coding	Benign
19	14754990	G	C	G14754990C	ADGRE2	NM_013447.4(ADGRE2):c.1554C>G:p.Ser518Arg	coding	Benign
19	14755069	C	T	C14755069T	ADGRE2	NM_013447.4(ADGRE2):c.1475G>A:p.Cys492Tyr	coding	Pathogenic
19	14755873	A	C	A14755873C	ADGRE2	NM_013447.4(ADGRE2):c.1197T>G:p.Pro399=	coding	Benign
19	14765380	G	A	G14765380A	ADGRE2	NM_013447.4(ADGRE2):c.846C>T:p.Phe282=	coding	Benign
19	14765383	G	T	G14765383T	ADGRE2	NM_013447.4(ADGRE2):c.843C>A:p.Phe281Leu	coding	Benign
19	14766290	C	T	C14766290T	ADGRE2	NM_013447.4(ADGRE2):c.579G>A:p.Pro193=	coding	Benign
19	14766305	C	G	C14766305G	ADGRE2	NM_013447.4(ADGRE2):c.564G>C:p.Gln188His	coding	Benign
19	14766336	G	T	G14766336T	ADGRE2	NM_013447.4(ADGRE2):c.533C>A:p.Thr178Asn	coding	Benign
19	14766388	A	G	A14766388G	ADGRE2	NM_013447.4(ADGRE2):c.488-7T>C	noncoding	Benign
19	15053523	G	A	G15053523A	CASP14	NM_012114.3(CASP14):c.69G>A:p.Leu23=	coding	Benign
19	15053628	C	T	C15053628T	CASP14	NM_012114.3(CASP14):c.174C>T:p.Ala58=	coding	Benign
19	15053748	C	G	C15053748G	CASP14	NM_012114.3(CASP14):c.193C>G:p.Leu65Val	coding	Benign
19	15055479	C	A	C15055479A	CASP14	NM_012114.3(CASP14):c.570C>A:p.Thr190=	coding	Benign
19	15087724	G	A	G15087724A	OR1I1	NM_001004713.1(OR1I1):c.659G>A:p.Arg220His	coding	Benign
19	15110672	C	T	C15110672T	SYDE1	NM_033025.6(SYDE1):c.1227C>T:p.Pro409=	coding	Benign
19	15119429	G	A	G15119429A	ILVBL	NM_006844.5(ILVBL):c.903C>T:p.Ala301=	coding	Benign
19	15120027	G	C	G15120027C	ILVBL	NM_006844.5(ILVBL):c.771C>G:p.Pro257=	coding	Benign
19	15122724	G	A	G15122724A	ILVBL	NM_006844.5(ILVBL):c.685C>T:p.Pro229Ser	coding	Benign
19	15123154	T	C	T15123154C	ILVBL	NM_006844.5(ILVBL):c.427A>G:p.Ile143Val	coding	Benign
19	15159772	G	A	G15159772A	NOTCH3	NM_000435.3(NOTCH3):c.*890C>T	noncoding	Benign
19	15159817	C	A	C15159817A	NOTCH3	NM_000435.3(NOTCH3):c.*845G>T	noncoding	Benign
19	15159825	C	T	C15159825T	NOTCH3	NM_000435.3(NOTCH3):c.*837G>A	noncoding	Benign
19	15159854	C	T	C15159854T	NOTCH3	NM_000435.3(NOTCH3):c.*808G>A	noncoding	Benign
19	15159994	C	A	C15159994A	NOTCH3	NM_000435.3(NOTCH3):c.*668G>T	noncoding	Benign
19	15160118	G	A	G15160118A	NOTCH3	NM_000435.3(NOTCH3):c.*544C>T	noncoding	Benign
19	15160199	C	T	C15160199T	NOTCH3	NM_000435.3(NOTCH3):c.*463G>A	noncoding	Benign
19	15160292	T	C	T15160292C	NOTCH3	NM_000435.3(NOTCH3):c.*370A>G	noncoding	Benign
19	15160324	T	G	T15160324G	NOTCH3	NM_000435.3(NOTCH3):c.*338A>C	noncoding	Benign
19	15160577	C	A	C15160577A	NOTCH3	NM_000435.3(NOTCH3):c.*85G>T	noncoding	Benign
19	15160639	A	T	A15160639T	NOTCH3	NM_000435.3(NOTCH3):c.*23T>A	noncoding	Benign
19	15160658	C	T	C15160658T	NOTCH3	NM_000435.3(NOTCH3):c.*4G>A	noncoding	Benign
19	15160815	A	G	A15160815G	NOTCH3	NM_000435.3(NOTCH3):c.6813T>C:p.Pro2271=	coding	Benign
19	15160819	G	A	G15160819A	NOTCH3	NM_000435.3(NOTCH3):c.6809C>T:p.Thr2270Met	coding	Benign/Likely_benign
19	15160875	G	A	G15160875A	NOTCH3	NM_000435.3(NOTCH3):c.6753C>T:p.Ser2251=	coding	Benign
19	15160881	G	A	G15160881A	NOTCH3	NM_000435.3(NOTCH3):c.6747C>T:p.Pro2249=	coding	Benign/Likely_benign
19	15160896	G	T	G15160896T	NOTCH3	NM_000435.3(NOTCH3):c.6732C>A:p.Tyr2244Ter	coding	Pathogenic
19	15160960	G	A	G15160960A	NOTCH3	NM_000435.3(NOTCH3):c.6668C>T:p.Ala2223Val	coding	Benign
19	15160962	C	T	C15160962T	NOTCH3	NM_000435.3(NOTCH3):c.6666G>A:p.Pro2222=	coding	Benign
19	15160965	G	C	G15160965C	NOTCH3	NM_000435.3(NOTCH3):c.6663C>G:p.Tyr2221Ter	coding	Pathogenic
19	15160974	G	A	G15160974A	NOTCH3	NM_000435.3(NOTCH3):c.6654C>T:p.Gly2218=	coding	Benign
19	15160995	G	C	G15160995C	NOTCH3	NM_000435.3(NOTCH3):c.6633C>G:p.Tyr2211Ter	coding	Pathogenic
19	15161055	C	T	C15161055T	NOTCH3	NM_000435.3(NOTCH3):c.6573G>A:p.Pro2191=	coding	Benign
19	15161059	G	A	G15161059A	NOTCH3	NM_000435.3(NOTCH3):c.6569C>T:p.Ala2190Val	coding	Benign
19	15161124	C	G	C15161124G	NOTCH3	NM_000435.3(NOTCH3):c.6504G>C:p.Val2168=	coding	Benign
19	15161190	C	T	C15161190T	NOTCH3	NM_000435.3(NOTCH3):c.6438G>A:p.Ala2146=	coding	Benign
19	15161381	T	A	T15161381A	NOTCH3	NM_000435.3(NOTCH3):c.6247A>T:p.Lys2083Ter	coding	Pathogenic
19	15161391	C	T	C15161391T	NOTCH3	NM_000435.3(NOTCH3):c.6237G>A:p.Gly2079=	coding	Benign/Likely_benign
19	15161407	G	A	G15161407A	NOTCH3	NM_000435.3(NOTCH3):c.6221C>T:p.Pro2074Leu	coding	Benign
19	15161526	G	A	G15161526A	NOTCH3	NM_000435.3(NOTCH3):c.6102C>T:p.Pro2034=	coding	Benign
19	15161597	C	T	C15161597T	NOTCH3	NM_000435.3(NOTCH3):c.6031G>A:p.Val2011Ile	coding	Benign/Likely_benign
19	15161636	G	A	G15161636A	NOTCH3	NM_000435.3(NOTCH3):c.5992C>T:p.Arg1998Cys	coding	Benign/Likely_benign
19	15162437	A	C	A15162437C	NOTCH3	NM_000435.3(NOTCH3):c.5913+28T>G	noncoding	Benign
19	15162483	C	T	C15162483T	NOTCH3	NM_000435.3(NOTCH3):c.5895G>A:p.Lys1965=	coding	Benign/Likely_benign
19	15162524	C	T	C15162524T	NOTCH3	NM_000435.3(NOTCH3):c.5854G>A:p.Val1952Met	coding	Benign
19	15162570	A	G	A15162570G	NOTCH3	NM_000435.3(NOTCH3):c.5816-8T>C	noncoding	Benign
19	15165332	C	T	C15165332T	NOTCH3	NM_000435.3(NOTCH3):c.5815+36G>A	noncoding	Benign
19	15165505	C	T	C15165505T	NOTCH3	NM_000435.3(NOTCH3):c.5678G>A:p.Arg1893Gln	coding	Benign
19	15165526	G	A	G15165526A	NOTCH3	NM_000435.3(NOTCH3):c.5668-11C>T	noncoding	Benign
19	15165928	A	G	A15165928G	NOTCH3	NM_000435.3(NOTCH3):c.5526T>C:p.Ala1842=	coding	Benign
19	15165994	G	T	G15165994T	NOTCH3	NM_000435.3(NOTCH3):c.5460C>A:p.Ile1820=	coding	Benign
19	15166054	C	A	C15166054A	NOTCH3	NM_000435.3(NOTCH3):c.5400G>T:p.Gly1800=	coding	Benign
19	15166078	C	T	C15166078T	NOTCH3	NM_000435.3(NOTCH3):c.5376G>A:p.Pro1792=	coding	Benign/Likely_benign
19	15166084	G	A	G15166084A	NOTCH3	NM_000435.3(NOTCH3):c.5370C>T:p.Phe1790=	coding	Benign
19	15166108	G	A	G15166108A	NOTCH3	NM_000435.3(NOTCH3):c.5363-17C>T	noncoding	Benign
19	15166112	C	T	C15166112T	NOTCH3	NM_000435.3(NOTCH3):c.5363-21G>A	noncoding	Benign
19	15167246	A	G	A15167246G	NOTCH3	NM_000435.3(NOTCH3):c.5362+3T>C	noncoding	Benign
19	15167415	G	T	G15167415T	NOTCH3	NM_000435.3(NOTCH3):c.5200-4C>A	noncoding	Benign/Likely_benign
19	15170321	G	C	G15170321C	NOTCH3	NM_000435.3(NOTCH3):c.5114+10C>G	noncoding	Benign/Likely_benign
19	15170575	C	A	C15170575A	NOTCH3	NM_000435.3(NOTCH3):c.4892-22G>T	noncoding	Benign
19	15170648	C	G	C15170648G	NOTCH3	NM_000435.3(NOTCH3):c.4891+23G>C	noncoding	Benign
19	15170844	G	A	G15170844A	NOTCH3	NM_000435.3(NOTCH3):c.4737-19C>T	noncoding	Benign
19	15174125	C	G	C15174125G	NOTCH3	NM_000435.3(NOTCH3):c.4679G>C:p.Arg1560Pro	coding	Benign/Likely_benign
19	15174241	T	C	T15174241C	NOTCH3	NM_000435.3(NOTCH3):c.4563A>G:p.Pro1521=	coding	Benign
19	15174248	A	G	A15174248G	NOTCH3	NM_000435.3(NOTCH3):c.4556T>C:p.Leu1519Pro	coding	Pathogenic
19	15174252	G	T	G15174252T	NOTCH3	NM_000435.3(NOTCH3):c.4552C>A:p.Leu1518Met	coding	Benign/Likely_benign
19	15174349	G	A	G15174349A	NOTCH3	NM_000435.3(NOTCH3):c.4455C>T:p.Asp1485=	coding	Benign
19	15177554	G	A	G15177554A	NOTCH3	NM_000435.3(NOTCH3):c.4374C>T:p.Cys1458=	coding	Benign
19	15177580	C	T	C15177580T	NOTCH3	NM_000435.3(NOTCH3):c.4348G>A:p.Ala1450Thr	coding	Benign/Likely_benign
19	15177581	G	A	G15177581A	NOTCH3	NM_000435.3(NOTCH3):c.4347C>T:p.Pro1449=	coding	Benign
19	15177903	G	T	G15177903T	NOTCH3	NM_000435.3(NOTCH3):c.4025C>A:p.Ala1342Asp	coding	Benign/Likely_benign
19	15178802	A	T	A15178802T	NOTCH3	NM_000435.3(NOTCH3):c.3837+21T>A	noncoding	Benign
19	15178952	G	A	G15178952A	NOTCH3	NM_000435.3(NOTCH3):c.3719-11C>T	noncoding	Benign/Likely_benign
19	15179012	C	A	C15179012A	NOTCH3	NM_000435.3(NOTCH3):c.3718+13G>T	noncoding	Benign
19	15179039	T	A	T15179039A	NOTCH3	NM_000435.3(NOTCH3):c.3704A>T:p.His1235Leu	coding	Benign/Likely_benign
19	15179085	G	A	G15179085A	NOTCH3	NM_000435.3(NOTCH3):c.3658C>T:p.Arg1220Trp	coding	Benign/Likely_benign
19	15179168	G	A	G15179168A	NOTCH3	NM_000435.3(NOTCH3):c.3575C>T:p.Thr1192Ile	coding	Benign
19	15179196	C	T	C15179196T	NOTCH3	NM_000435.3(NOTCH3):c.3547G>A:p.Val1183Met	coding	Benign
19	15179297	G	A	G15179297A	NOTCH3	NM_000435.3(NOTCH3):c.3461-15C>T	coding	Benign
19	15179314	G	A	G15179314A	NOTCH3;MIR6795	NM_000435.3(NOTCH3):c.3461-32C>T	coding	Benign
19	15179425	G	T	G15179425T	NOTCH3	NM_000435.3(NOTCH3):c.3399C>A:p.His1133Gln	coding	Benign
19	15179468	C	T	C15179468T	NOTCH3	NM_000435.3(NOTCH3):c.3356G>A:p.Cys1119Tyr	coding	Pathogenic
19	15180061	C	T	C15180061T	NOTCH3	NM_000435.3(NOTCH3):c.3327+11G>A	noncoding	Benign
19	15180085	C	G	C15180085G	NOTCH3	NM_000435.3(NOTCH3):c.3314G>C:p.Gly1105Ala	coding	Benign
19	15180103	C	T	C15180103T	NOTCH3	NM_000435.3(NOTCH3):c.3296G>A:p.Cys1099Tyr	coding	Pathogenic/Likely_pathogenic
19	15180158	A	G	A15180158G	NOTCH3	NM_000435.3(NOTCH3):c.3241T>C:p.Cys1081Arg	coding	Pathogenic
19	15180173	G	A	G15180173A	NOTCH3	NM_000435.3(NOTCH3):c.3226C>T:p.Arg1076Cys	coding	Pathogenic/Likely_pathogenic
19	15180217	C	T	C15180217T	NOTCH3	NM_000435.3(NOTCH3):c.3182G>A:p.Cys1061Tyr	coding	Pathogenic/Likely_pathogenic
19	15180229	G	A	G15180229A	NOTCH3	NM_000435.3(NOTCH3):c.3170C>T:p.Ala1057Val	coding	Benign
19	15180285	G	A	G15180285A	NOTCH3	NM_000435.3(NOTCH3):c.3143-29C>T	noncoding	Benign
19	15180732	G	A	G15180732A	NOTCH3	NM_000435.3(NOTCH3):c.3091C>T:p.Arg1031Cys	coding	Pathogenic
19	15180758	C	A	C15180758A	NOTCH3	NM_000435.3(NOTCH3):c.3065G>T:p.Cys1022Phe	coding	Pathogenic
19	15180761	T	C	T15180761C	NOTCH3	NM_000435.3(NOTCH3):c.3062A>G:p.Tyr1021Cys	coding	Pathogenic/Likely_pathogenic
19	15180765	C	G	C15180765G	NOTCH3	NM_000435.3(NOTCH3):c.3058G>C:p.Ala1020Pro	coding	Benign
19	15180780	A	G	A15180780G	NOTCH3	NM_000435.3(NOTCH3):c.3043T>C:p.Cys1015Arg	coding	Pathogenic
19	15180783	G	A	G15180783A	NOTCH3	NM_000435.3(NOTCH3):c.3040C>T:p.Arg1014Cys	coding	Pathogenic
19	15180797	C	T	C15180797T	NOTCH3	NM_000435.3(NOTCH3):c.3026G>A:p.Cys1009Tyr	coding	Pathogenic
19	15180807	G	A	G15180807A	NOTCH3	NM_000435.3(NOTCH3):c.3016C>T:p.Arg1006Cys	coding	Pathogenic
19	15180812	C	T	C15180812T	NOTCH3	NM_000435.3(NOTCH3):c.3011G>A:p.Cys1004Tyr	coding	Pathogenic
19	15180966	A	C	A15180966C	NOTCH3	NM_000435.3(NOTCH3):c.2989T>G:p.Cys997Gly	coding	Pathogenic
19	15181002	G	A	G15181002A	NOTCH3	NM_000435.3(NOTCH3):c.2953C>T:p.Arg985Cys	coding	Pathogenic
19	15181004	A	C	A15181004C	NOTCH3	NM_000435.3(NOTCH3):c.2951T>G:p.Phe984Cys	coding	Pathogenic
19	15181120	C	T	C15181120T	NOTCH3	NM_000435.3(NOTCH3):c.2835G>A:p.Ser945=	coding	Benign
19	15181555	C	T	C15181555T	NOTCH3	NM_000435.3(NOTCH3):c.2792+21G>A	noncoding	Benign
19	15181570	G	A	G15181570A	NOTCH3	NM_000435.3(NOTCH3):c.2792+6C>T	noncoding	Benign
19	15181626	T	C	T15181626C	NOTCH3	NM_000435.3(NOTCH3):c.2742A>G:p.Pro914=	coding	Benign
19	15181644	G	A	G15181644A	NOTCH3	NM_000435.3(NOTCH3):c.2724C>T:p.Phe908=	coding	Benign
19	15181686	G	A	G15181686A	NOTCH3	NM_000435.3(NOTCH3):c.2682C>T:p.Asn894=	coding	Benign
19	15181788	G	A	G15181788A	NOTCH3	NM_000435.3(NOTCH3):c.2580C>T:p.Asn860=	coding	Benign
19	15184323	G	A	G15184323A	NOTCH3	NM_000435.3(NOTCH3):c.2538C>T:p.Cys846=	coding	Benign
19	15184354	G	A	G15184354A	NOTCH3	NM_000435.3(NOTCH3):c.2507C>T:p.Thr836Ile	coding	Benign/Likely_benign
19	15184451	C	A	C15184451A	NOTCH3	NM_000435.3(NOTCH3):c.2411-1G>T	coding	Pathogenic
19	15184454	G	C	G15184454C	NOTCH3	NM_000435.3(NOTCH3):c.2411-4C>G	noncoding	Benign/Likely_benign
19	15185016	C	T	C15185016T	NOTCH3	NM_000435.3(NOTCH3):c.2300G>A:p.Arg767His	coding	Benign/Likely_benign
19	15185351	G	A	G15185351A	NOTCH3	NM_000435.3(NOTCH3):c.2202C>T:p.Ala734=	coding	Benign
19	15185378	A	G	A15185378G	NOTCH3	NM_000435.3(NOTCH3):c.2175T>C:p.Ser725=	coding	Benign
19	15185390	C	T	C15185390T	NOTCH3	NM_000435.3(NOTCH3):c.2163G>A:p.Glu721=	coding	Benign
19	15185592	C	T	C15185592T	NOTCH3	NM_000435.3(NOTCH3):c.2039G>A:p.Arg680His	coding	Benign
19	15185632	C	A	C15185632A	NOTCH3	NM_000435.3(NOTCH3):c.1999G>T:p.Gly667Cys	coding	Pathogenic
19	15185702	C	T	C15185702T	NOTCH3	NM_000435.3(NOTCH3):c.1952-23G>A	noncoding	Benign
19	15185711	A	C	A15185711C	NOTCH3	NM_000435.3(NOTCH3):c.1952-32T>G	noncoding	Benign
19	15186840	G	C	G15186840C	NOTCH3	NM_000435.3(NOTCH3):c.1951+38C>G	noncoding	Benign
19	15187097	G	A	G15187097A	NOTCH3	NM_000435.3(NOTCH3):c.1840+8C>T	noncoding	Benign/Likely_benign
19	15187126	G	A	G15187126A	NOTCH3	NM_000435.3(NOTCH3):c.1819C>T:p.Arg607Cys	coding	Pathogenic/Likely_pathogenic
19	15187129	A	G	A15187129G	NOTCH3	NM_000435.3(NOTCH3):c.1816T>C:p.Cys606Arg	coding	Pathogenic
19	15187163	G	A	G15187163A	NOTCH3	NM_000435.3(NOTCH3):c.1782C>T:p.Gly594=	coding	Benign
19	15187193	G	A	G15187193A	NOTCH3	NM_000435.3(NOTCH3):c.1752C>T:p.Asp584=	coding	Benign
19	15187220	C	G	C15187220G	NOTCH3	NM_000435.3(NOTCH3):c.1725G>C:p.Thr575=	coding	Benign/Likely_benign
19	15187220	C	T	C15187220T	NOTCH3	NM_000435.3(NOTCH3):c.1725G>A:p.Thr575=	coding	Benign
19	15187255	C	T	C15187255T	NOTCH3	NM_000435.3(NOTCH3):c.1690G>A:p.Ala564Thr	coding	Benign/Likely_benign
19	15187268	G	A	G15187268A	NOTCH3	NM_000435.3(NOTCH3):c.1677C>T:p.Cys559=	coding	Benign
19	15187273	G	A	G15187273A	NOTCH3	NM_000435.3(NOTCH3):c.1672C>T:p.Arg558Cys	coding	Pathogenic
19	15187299	C	T	C15187299T	NOTCH3	NM_000435.3(NOTCH3):c.1646G>A:p.Cys549Tyr	coding	Pathogenic
19	15187315	G	A	G15187315A	NOTCH3	NM_000435.3(NOTCH3):c.1630C>T:p.Arg544Cys	coding	Pathogenic/Likely_pathogenic
19	15187325	C	A	C15187325A	NOTCH3	NM_000435.3(NOTCH3):c.1620G>T:p.Thr540=	coding	Benign/Likely_benign
19	15187343	G	T	G15187343T	NOTCH3	NM_000435.3(NOTCH3):c.1607-5C>A	noncoding	Benign/Likely_benign
19	15187890	A	G	A15187890G	NOTCH3	NM_000435.3(NOTCH3):c.1597T>C:p.Cys533Arg	coding	Pathogenic
19	15187893	G	A	G15187893A	NOTCH3	NM_000435.3(NOTCH3):c.1594C>T:p.Arg532Cys	coding	Pathogenic
19	15187920	C	T	C15187920T	NOTCH3	NM_000435.3(NOTCH3):c.1567G>A:p.Val523Met	coding	Benign
19	15187955	C	T	C15187955T	NOTCH3	NM_000435.3(NOTCH3):c.1532G>A:p.Cys511Tyr	coding	Pathogenic
19	15187956	A	C	A15187956C	NOTCH3	NM_000435.3(NOTCH3):c.1531T>G:p.Cys511Gly	coding	Pathogenic
19	15188002	G	A	G15188002A	NOTCH3	NM_000435.3(NOTCH3):c.1493-8C>T	noncoding	Benign
19	15188237	G	A	G15188237A	NOTCH3	NM_000435.3(NOTCH3):c.1490C>T:p.Ser497Leu	coding	Benign/Likely_benign
19	15188240	G	A	G15188240A	NOTCH3	NM_000435.3(NOTCH3):c.1487C>T:p.Pro496Leu	coding	Benign
19	15188276	C	A	C15188276A	NOTCH3	NM_000435.3(NOTCH3):c.1451G>T:p.Cys484Phe	coding	Pathogenic
19	15188276	C	T	C15188276T	NOTCH3	NM_000435.3(NOTCH3):c.1451G>A:p.Cys484Tyr	coding	Pathogenic
19	15188294	C	T	C15188294T	NOTCH3	NM_000435.3(NOTCH3):c.1433G>A:p.Cys478Tyr	coding	Pathogenic
19	15189003	C	A	C15189003A	NOTCH3	NM_000435.3(NOTCH3):c.1364G>T:p.Cys455Phe	coding	Pathogenic
19	15189003	C	T	C15189003T	NOTCH3	NM_000435.3(NOTCH3):c.1364G>A:p.Cys455Tyr	coding	Pathogenic/Likely_pathogenic
19	15189004	A	G	A15189004G	NOTCH3	NM_000435.3(NOTCH3):c.1363T>C:p.Cys455Arg	coding	Pathogenic
19	15189030	C	A	C15189030A	NOTCH3	NM_000435.3(NOTCH3):c.1337G>T:p.Cys446Phe	coding	Pathogenic
19	15189084	C	T	C15189084T	NOTCH3	NM_000435.3(NOTCH3):c.1283G>A:p.Cys428Tyr	coding	Pathogenic
19	15189085	A	T	A15189085T	NOTCH3	NM_000435.3(NOTCH3):c.1282T>A:p.Cys428Ser	coding	Pathogenic
19	15189099	T	C	T15189099C	NOTCH3	NM_000435.3(NOTCH3):c.1268A>G:p.Tyr423Cys	coding	Pathogenic
19	15189106	G	A	G15189106A	NOTCH3	NM_000435.3(NOTCH3):c.1261C>T:p.Arg421Cys	coding	Pathogenic
19	15189109	C	A	C15189109A	NOTCH3	NM_000435.3(NOTCH3):c.1258G>T:p.Gly420Cys	coding	Pathogenic/Likely_pathogenic
19	15189112	A	C	A15189112C	NOTCH3	NM_000435.3(NOTCH3):c.1255T>G:p.Cys419Gly	coding	Pathogenic
19	15189163	A	T	A15189163T	NOTCH3	NM_000435.3(NOTCH3):c.1204T>A:p.Cys402Ser	coding	Pathogenic
19	15189173	G	A	G15189173A	NOTCH3	NM_000435.3(NOTCH3):c.1194C>T:p.Gly398=	coding	Benign
19	15189258	T	C	T15189258C	NOTCH3	NM_000435.3(NOTCH3):c.1192+15A>G	noncoding	Benign
19	15189278	G	C	G15189278C	NOTCH3	NM_000435.3(NOTCH3):c.1187C>G:p.Ser396Cys	coding	Pathogenic
19	15189325	A	G	A15189325G	NOTCH3	NM_000435.3(NOTCH3):c.1140T>C:p.Pro380=	coding	Benign
19	15189330	A	C	A15189330C	NOTCH3	NM_000435.3(NOTCH3):c.1135T>G:p.Cys379Gly	coding	Pathogenic
19	15189348	C	A	C15189348A	NOTCH3	NM_000435.3(NOTCH3):c.1117G>T:p.Gly373Cys	coding	Pathogenic
19	15189406	G	A	G15189406A	NOTCH3	NM_000435.3(NOTCH3):c.1059C>T:p.Asp353=	coding	Benign
19	15191466	G	A	G15191466A	NOTCH3	NM_000435.3(NOTCH3):c.994C>T:p.Arg332Cys	coding	Pathogenic
19	15191610	C	T	C15191610T	NOTCH3	NM_000435.3(NOTCH3):c.850G>A:p.Ala284Thr	coding	Benign
19	15191635	C	T	C15191635T	NOTCH3	NM_000435.3(NOTCH3):c.825G>A:p.Val275=	coding	Benign/Likely_benign
19	15191774	T	C	T15191774C	NOTCH3	NM_000435.3(NOTCH3):c.773A>G:p.Tyr258Cys	coding	Pathogenic
19	15191795	C	T	C15191795T	NOTCH3	NM_000435.3(NOTCH3):c.752G>A:p.Cys251Tyr	coding	Pathogenic
19	15191796	A	G	A15191796G	NOTCH3	NM_000435.3(NOTCH3):c.751T>C:p.Cys251Arg	coding	Pathogenic
19	15191968	C	T	C15191968T	NOTCH3	NM_000435.3(NOTCH3):c.671G>A:p.Cys224Tyr	coding	Pathogenic
19	15191974	C	T	C15191974T	NOTCH3	NM_000435.3(NOTCH3):c.665G>A:p.Cys222Tyr	coding	Pathogenic/Likely_pathogenic
19	15191979	G	A	G15191979A	NOTCH3	NM_000435.3(NOTCH3):c.660C>T:p.Tyr220=	coding	Benign/Likely_benign
19	15192005	A	G	A15192005G	NOTCH3	NM_000435.3(NOTCH3):c.634T>C:p.Cys212Arg	coding	Pathogenic
19	15192005	A	T	A15192005T	NOTCH3	NM_000435.3(NOTCH3):c.634T>A:p.Cys212Ser	coding	Pathogenic
19	15192020	G	A	G15192020A	NOTCH3	NM_000435.3(NOTCH3):c.619C>T:p.Arg207Cys	coding	Pathogenic/Likely_pathogenic
19	15192033	T	C	T15192033C	NOTCH3	NM_000435.3(NOTCH3):c.606A>G:p.Ala202=	coding	Benign
19	15192037	C	T	C15192037T	NOTCH3	NM_000435.3(NOTCH3):c.602G>A:p.Cys201Tyr	coding	Pathogenic
19	15192046	G	A	G15192046A	NOTCH3	NM_000435.3(NOTCH3):c.593C>T:p.Ala198Val	coding	Benign
19	15192048	G	A	G15192048A	NOTCH3	NM_000435.3(NOTCH3):c.591C>T:p.Pro197=	coding	Benign/Likely_benign
19	15192059	A	G	A15192059G	NOTCH3	NM_000435.3(NOTCH3):c.580T>C:p.Cys194Arg	coding	Pathogenic
19	15192059	A	T	A15192059T	NOTCH3	NM_000435.3(NOTCH3):c.580T>A:p.Cys194Ser	coding	Pathogenic
19	15192085	C	A	C15192085A	NOTCH3	NM_000435.3(NOTCH3):c.554G>T:p.Cys185Phe	coding	Pathogenic
19	15192085	C	T	C15192085T	NOTCH3	NM_000435.3(NOTCH3):c.554G>A:p.Cys185Tyr	coding	Pathogenic
19	15192086	A	G	A15192086G	NOTCH3	NM_000435.3(NOTCH3):c.553T>C:p.Cys185Arg	coding	Pathogenic
19	15192091	C	A	C15192091A	NOTCH3	NM_000435.3(NOTCH3):c.548G>T:p.Cys183Phe	coding	Pathogenic
19	15192091	C	T	C15192091T	NOTCH3	NM_000435.3(NOTCH3):c.548G>A:p.Cys183Tyr	coding	Pathogenic
19	15192095	G	A	G15192095A	NOTCH3	NM_000435.3(NOTCH3):c.544C>T:p.Arg182Cys	coding	Pathogenic
19	15192118	C	A	C15192118A	NOTCH3	NM_000435.3(NOTCH3):c.521G>T:p.Cys174Phe	coding	Pathogenic
19	15192118	C	T	C15192118T	NOTCH3	NM_000435.3(NOTCH3):c.521G>A:p.Cys174Tyr	coding	Pathogenic
19	15192119	A	T	A15192119T	NOTCH3	NM_000435.3(NOTCH3):c.520T>A:p.Cys174Ser	coding	Pathogenic
19	15192130	T	C	T15192130C	NOTCH3	NM_000435.3(NOTCH3):c.509A>G:p.His170Arg	coding	Benign/Likely_benign
19	15192134	G	A	G15192134A	NOTCH3	NM_000435.3(NOTCH3):c.505C>T:p.Arg169Cys	coding	Pathogenic
19	15192140	G	A	G15192140A	NOTCH3	NM_000435.3(NOTCH3):c.499C>T:p.Pro167Ser	coding	Benign
19	15192182	G	A	G15192182A	NOTCH3	NM_000435.3(NOTCH3):c.457C>T:p.Arg153Cys	coding	Pathogenic
19	15192202	C	T	C15192202T	NOTCH3	NM_000435.3(NOTCH3):c.437G>A:p.Cys146Tyr	coding	Pathogenic
19	15192203	A	G	A15192203G	NOTCH3	NM_000435.3(NOTCH3):c.436T>C:p.Cys146Arg	coding	Pathogenic/Likely_pathogenic
19	15192207	G	A	G15192207A	NOTCH3	NM_000435.3(NOTCH3):c.432C>T:p.Cys144=	coding	Benign
19	15192208	C	T	C15192208T	NOTCH3	NM_000435.3(NOTCH3):c.431G>A:p.Cys144Tyr	coding	Pathogenic
19	15192218	G	A	G15192218A	NOTCH3	NM_000435.3(NOTCH3):c.421C>T:p.Arg141Cys	coding	Pathogenic
19	15192242	G	A	G15192242A	NOTCH3	NM_000435.3(NOTCH3):c.397C>T:p.Arg133Cys	coding	Pathogenic/Likely_pathogenic
19	15192286	G	C	G15192286C	NOTCH3	NM_000435.3(NOTCH3):c.353C>G:p.Ser118Cys	coding	Pathogenic
19	15192289	C	A	C15192289A	NOTCH3	NM_000435.3(NOTCH3):c.350G>T:p.Cys117Phe	coding	Pathogenic
19	15192289	C	T	C15192289T	NOTCH3	NM_000435.3(NOTCH3):c.350G>A:p.Cys117Tyr	coding	Pathogenic
19	15192290	A	C	A15192290C	NOTCH3	NM_000435.3(NOTCH3):c.349T>G:p.Cys117Gly	coding	Pathogenic
19	15192290	A	G	A15192290G	NOTCH3	NM_000435.3(NOTCH3):c.349T>C:p.Cys117Arg	coding	Pathogenic
19	15192379	C	T	C15192379T	NOTCH3	NM_000435.3(NOTCH3):c.338G>A:p.Arg113Gln	coding	Benign/Likely_benign
19	15192394	C	A	C15192394A	NOTCH3	NM_000435.3(NOTCH3):c.323G>T:p.Cys108Phe	coding	Pathogenic
19	15192401	A	G	A15192401G	NOTCH3	NM_000435.3(NOTCH3):c.316T>C:p.Cys106Arg	coding	Pathogenic
19	15192414	G	A	G15192414A	NOTCH3	NM_000435.3(NOTCH3):c.303C>T:p.Thr101=	coding	Benign
19	15192449	G	A	G15192449A	NOTCH3	NM_000435.3(NOTCH3):c.268C>T:p.Arg90Cys	coding	Pathogenic
19	15192458	A	G	A15192458G	NOTCH3	NM_000435.3(NOTCH3):c.259T>C:p.Cys87Arg	coding	Pathogenic
19	15192472	C	A	C15192472A	NOTCH3	NM_000435.3(NOTCH3):c.245G>T:p.Cys82Phe	coding	Pathogenic/Likely_pathogenic
19	15192490	C	T	C15192490T	NOTCH3	NM_000435.3(NOTCH3):c.227G>A:p.Cys76Tyr	coding	Pathogenic
19	15192491	A	G	A15192491G	NOTCH3	NM_000435.3(NOTCH3):c.226T>C:p.Cys76Arg	coding	Pathogenic
19	15192491	A	T	A15192491T	NOTCH3	NM_000435.3(NOTCH3):c.226T>A:p.Cys76Ser	coding	Pathogenic
19	15192493	C	G	C15192493G	NOTCH3	NM_000435.3(NOTCH3):c.224G>C:p.Arg75Pro	coding	Pathogenic
19	15192504	C	A	C15192504A	NOTCH3	NM_000435.3(NOTCH3):c.213G>T:p.Trp71Cys	coding	Pathogenic
19	15192513	C	T	C15192513T	NOTCH3	NM_000435.3(NOTCH3):c.204G>A:p.Pro68=	coding	Benign
19	15192517	C	A	C15192517A	NOTCH3	NM_000435.3(NOTCH3):c.200G>T:p.Cys67Phe	coding	Pathogenic
19	15197476	G	C	G15197476C	NOTCH3	NM_000435.3(NOTCH3):c.197+24C>G	noncoding	Benign
19	15197477	G	T	G15197477T	NOTCH3	NM_000435.3(NOTCH3):c.197+23C>A	noncoding	Benign
19	15197503	C	A	C15197503A	NOTCH3	NM_000435.3(NOTCH3):c.194G>T:p.Cys65Phe	coding	Pathogenic
19	15197503	C	G	C15197503G	NOTCH3	NM_000435.3(NOTCH3):c.194G>C:p.Cys65Ser	coding	Pathogenic
19	15197504	A	C	A15197504C	NOTCH3	NM_000435.3(NOTCH3):c.193T>G:p.Cys65Gly	coding	Pathogenic
19	15197510	C	T	C15197510T	NOTCH3	NM_000435.3(NOTCH3):c.187G>A:p.Ala63Thr	coding	Pathogenic
19	15197533	C	T	C15197533T	NOTCH3	NM_000435.3(NOTCH3):c.164G>A:p.Cys55Tyr	coding	Pathogenic/Likely_pathogenic
19	15197534	A	G	A15197534G	NOTCH3	NM_000435.3(NOTCH3):c.163T>C:p.Cys55Arg	coding	Pathogenic
19	15197537	G	A	G15197537A	NOTCH3	NM_000435.3(NOTCH3):c.160C>T:p.Arg54Cys	coding	Pathogenic/Likely_pathogenic
19	15197551	C	T	C15197551T	NOTCH3	NM_000435.3(NOTCH3):c.146G>A:p.Cys49Tyr	coding	Pathogenic
19	15197552	A	C	A15197552C	NOTCH3	NM_000435.3(NOTCH3):c.145T>G:p.Cys49Gly	coding	Pathogenic
19	15197552	A	G	A15197552G	NOTCH3	NM_000435.3(NOTCH3):c.145T>C:p.Cys49Arg	coding	Pathogenic
19	15197562	G	A	G15197562A	NOTCH3	NM_000435.3(NOTCH3):c.135C>T:p.Asp45=	coding	Benign
19	15197569	C	T	C15197569T	NOTCH3	NM_000435.3(NOTCH3):c.128G>A:p.Cys43Tyr	coding	Pathogenic
19	15231811	G	C	G15231811C	EPHX3	NM_024794.3(EPHX3):c.294C>G:p.Pro98=	coding	Benign
19	15238734	C	A	C15238734A	BRD4	NM_058243.2(BRD4):c.4020+9G>T	noncoding	Benign
19	15238785	C	A	C15238785A	BRD4	NM_058243.2(BRD4):c.3978G>T:p.Glu1326Asp	coding	Benign
19	15238836	G	A	G15238836A	BRD4	NM_058243.2(BRD4):c.3927C>T:p.Thr1309=	coding	Benign
19	15239151	G	A	G15239151A	BRD4	NM_058243.2(BRD4):c.3690C>T:p.Ala1230=	coding	Benign
19	15239160	G	A	G15239160A	BRD4	NM_058243.2(BRD4):c.3681C>T:p.Phe1227=	coding	Benign
19	15239479	C	T	C15239479T	BRD4	NM_058243.2(BRD4):c.3489G>A:p.Arg1163=	coding	Benign
19	15244571	C	T	C15244571T	BRD4	NM_058243.2(BRD4):c.2241G>A:p.Gln747=	coding	Benign
19	15256225	C	T	C15256225T	BRD4	NM_058243.2(BRD4):c.1590G>A:p.Gln530=	coding	Benign
19	15257181	G	A	G15257181A	BRD4	NM_058243.2(BRD4):c.1342-8C>T	noncoding	Benign
19	15263414	C	G	C15263414G	BRD4	NM_058243.2(BRD4):c.1341+6G>C	noncoding	Benign
19	15264394	T	A	T15264394A	BRD4	NM_058243.2(BRD4):c.1212+10A>T	noncoding	Benign
19	15264650	C	T	C15264650T	BRD4	NM_058243.2(BRD4):c.966G>A:p.Arg322=	coding	Benign
19	15265402	G	A	G15265402A	BRD4	NM_058243.2(BRD4):c.801C>T:p.Pro267=	coding	Benign
19	15355149	G	A	G15355149A	AKAP8	NM_005858.4(AKAP8):c.1845C>T:p.Ala615=	coding	Benign
19	15368227	C	T	C15368227T	AKAP8	NM_005858.4(AKAP8):c.1160+8G>A	noncoding	Benign
19	15368291	C	T	C15368291T	AKAP8	NM_005858.4(AKAP8):c.1104G>A:p.Lys368=	coding	Benign
19	15370139	T	G	T15370139G	AKAP8	NM_005858.4(AKAP8):c.1072+7A>C	noncoding	Benign
19	15370168	G	A	G15370168A	AKAP8	NM_005858.4(AKAP8):c.1050C>T:p.Leu350=	coding	Benign
19	15370170	G	A	G15370170A	AKAP8	NM_005858.4(AKAP8):c.1048C>T:p.Leu350Phe	coding	Benign
19	15372246	A	T	A15372246T	AKAP8	NM_005858.4(AKAP8):c.963T>A:p.Val321=	coding	Benign
19	15372315	T	C	T15372315C	AKAP8	NM_005858.4(AKAP8):c.894A>G:p.Pro298=	coding	Benign
19	15372326	G	A	G15372326A	AKAP8	NM_005858.4(AKAP8):c.883C>T:p.Arg295Cys	coding	Benign
19	15372993	G	T	G15372993T	AKAP8	NM_005858.4(AKAP8):c.719C>A:p.Pro240His	coding	Benign
19	15373001	C	T	C15373001T	AKAP8	NM_005858.4(AKAP8):c.711G>A:p.Gly237=	coding	Benign
19	15373007	C	G	C15373007G	AKAP8	NM_005858.4(AKAP8):c.705G>C:p.Leu235=	coding	Benign
19	15373095	C	T	C15373095T	AKAP8	NM_005858.4(AKAP8):c.617G>A:p.Arg206His	coding	Benign
19	15373212	C	T	C15373212T	AKAP8	NM_005858.4(AKAP8):c.500G>A:p.Gly167Glu	coding	Benign
19	15374040	G	A	G15374040A	AKAP8	NM_005858.4(AKAP8):c.117C>T:p.Gly39=	coding	Benign
19	15399408	C	G	C15399408G	AKAP8L	NM_014371.4(AKAP8L):c.1051G>C:p.Ala351Pro	coding	Benign
19	15401582	G	A	G15401582A	AKAP8L	NM_014371.4(AKAP8L):c.384C>T:p.Cys128=	coding	Benign
19	15475969	C	A	C15475969A	PGLYRP2	NM_052890.4(PGLYRP2):c.701G>T:p.Gly234Val	coding	Benign
19	15525387	G	A	G15525387A	CYP4F22	NM_173483.4(CYP4F22):c.51G>A:p.Thr17=	coding	Benign/Likely_benign
19	15525513	C	T	C15525513T	CYP4F22	NM_173483.4(CYP4F22):c.177C>T:p.Phe59=	coding	Benign/Likely_benign
19	15529728	G	A	G15529728A	CYP4F22	NM_173483.4(CYP4F22):c.242G>A:p.Gly81Asp	coding	Pathogenic
19	15529854	G	A	G15529854A	CYP4F22	NM_173483.4(CYP4F22):c.367+1G>A	coding	Pathogenic
19	15529858	G	A	G15529858A	CYP4F22	NM_173483.4(CYP4F22):c.367+5G>A	noncoding	Benign
19	15537352	C	G	C15537352G	CYP4F22	NM_173483.4(CYP4F22):c.368-9C>G	noncoding	Benign
19	15537415	G	A	G15537415A	CYP4F22	NM_173483.4(CYP4F22):c.421+1G>A	coding	Pathogenic
19	15537422	C	A	C15537422A	CYP4F22	NM_173483.4(CYP4F22):c.421+8C>A	noncoding	Benign
19	15537560	T	C	T15537560C	CYP4F22	NM_173483.4(CYP4F22):c.447T>C:p.Gly149=	coding	Benign
19	15537579	C	T	C15537579T	CYP4F22	NM_173483.4(CYP4F22):c.466C>T:p.Arg156Cys	coding	Pathogenic
19	15537580	G	A	G15537580A	CYP4F22	NM_173483.4(CYP4F22):c.467G>A:p.Arg156His	coding	Pathogenic
19	15537645	A	T	A15537645T	CYP4F22	NM_173483.4(CYP4F22):c.532A>T:p.Ser178Cys	coding	Benign
19	15537667	G	C	G15537667C	CYP4F22	NM_173483.4(CYP4F22):c.549+5G>C	noncoding	Pathogenic
19	15537870	A	T	A15537870T	CYP4F22	NM_173483.4(CYP4F22):c.550-2A>T	noncoding	Pathogenic
19	15537904	G	A	G15537904A	CYP4F22	NM_173483.4(CYP4F22):c.582G>A:p.Ala194=	coding	Benign
19	15537909	C	G	C15537909G	CYP4F22	NM_173483.4(CYP4F22):c.587C>G:p.Ser196Cys	coding	Benign
19	15537914	G	T	G15537914T	CYP4F22	NM_173483.4(CYP4F22):c.592G>T:p.Asp198Tyr	coding	Pathogenic
19	15540471	C	T	C15540471T	CYP4F22	NM_173483.4(CYP4F22):c.693C>T:p.Ser231=	coding	Benign/Likely_benign
19	15540475	A	C	A15540475C	CYP4F22	NM_173483.4(CYP4F22):c.697A>C:p.Ile233Leu	coding	Pathogenic
19	15540505	C	T	C15540505T	CYP4F22	NM_173483.4(CYP4F22):c.727C>T:p.Arg243Cys	coding	Pathogenic
19	15540506	G	A	G15540506A	CYP4F22	NM_173483.4(CYP4F22):c.728G>A:p.Arg243His	coding	Pathogenic
19	15540555	G	A	G15540555A	CYP4F22	NM_173483.4(CYP4F22):c.777G>A:p.Ala259=	coding	Benign
19	15540625	C	T	C15540625T	CYP4F22	NM_173483.4(CYP4F22):c.847C>T:p.Arg283Trp	coding	Pathogenic
19	15540690	C	A	C15540690A	CYP4F22	NM_173483.4(CYP4F22):c.912C>A:p.Asp304Glu	coding	Pathogenic
19	15540695	T	C	T15540695C	CYP4F22	NM_173483.4(CYP4F22):c.917T>C:p.Ile306Thr	coding	Pathogenic
19	15543970	G	A	G15543970A	CYP4F22	NM_173483.4(CYP4F22):c.940-1G>A	noncoding	Pathogenic
19	15544007	C	T	C15544007T	CYP4F22	NM_173483.4(CYP4F22):c.976C>T:p.Arg326Ter	coding	Pathogenic
19	15544148	A	G	A15544148G	CYP4F22	NM_173483.4(CYP4F22):c.1007-2A>G	noncoding	Pathogenic
19	15544227	C	G	C15544227G	CYP4F22	NM_173483.4(CYP4F22):c.1084C>G:p.Arg362Gly	coding	Pathogenic
19	15544227	C	T	C15544227T	CYP4F22	NM_173483.4(CYP4F22):c.1084C>T:p.Arg362Ter	coding	Pathogenic
19	15544228	G	A	G15544228A	CYP4F22	NM_173483.4(CYP4F22):c.1085G>A:p.Arg362Gln	coding	Pathogenic
19	15544257	C	T	C15544257T	CYP4F22	NM_173483.4(CYP4F22):c.1114C>T:p.Arg372Trp	coding	Pathogenic
19	15548134	C	A	C15548134A	CYP4F22	NM_173483.4(CYP4F22):c.1163C>A:p.Thr388Lys	coding	Pathogenic
19	15549170	C	T	C15549170T	CYP4F22	NM_173483.4(CYP4F22):c.1303C>T:p.His435Tyr	coding	Pathogenic
19	15549173	C	G	C15549173G	CYP4F22	NM_173483.4(CYP4F22):c.1306C>G:p.His436Asp	coding	Pathogenic
19	15550689	C	T	C15550689T	CYP4F22	NM_173483.4(CYP4F22):c.1351C>T:p.Arg451Cys	coding	Pathogenic
19	15550690	G	C	G15550690C	CYP4F22	NM_173483.4(CYP4F22):c.1352G>C:p.Arg451Pro	coding	Pathogenic
19	15551363	C	G	C15551363G	CYP4F22	NM_173483.4(CYP4F22):c.1488C>G:p.Phe496Leu	coding	Pathogenic
19	15551388	A	C	A15551388C	CYP4F22	NM_173483.4(CYP4F22):c.1513A>C:p.Lys505Gln	coding	Benign
19	15551407	A	G	A15551407G	CYP4F22	NM_173483.4(CYP4F22):c.1532A>G:p.Glu511Gly	coding	Pathogenic
19	15551438	G	A	G15551438A	CYP4F22	NM_173483.4(CYP4F22):c.1563G>A:p.Trp521Ter	coding	Pathogenic
19	15551561	C	A	C15551561A	CYP4F22	NM_173483.4(CYP4F22):c.*90C>A	noncoding	Benign
19	15551654	T	G	T15551654G	CYP4F22	NM_173483.4(CYP4F22):c.*183T>G	noncoding	Benign
19	15551733	C	A	C15551733A	CYP4F22	NM_173483.4(CYP4F22):c.*262C>A	noncoding	Benign
19	15551921	C	A	C15551921A	CYP4F22	NM_173483.4(CYP4F22):c.*450C>A	noncoding	Benign
19	15649205	A	G	A15649205G	CYP4F3	NM_000896.3(CYP4F3):c.571A>G:p.Met191Val	coding	Benign
19	15650073	G	A	G15650073A	CYP4F3	NM_000896.3(CYP4F3):c.808G>A:p.Val270Ile	coding	Benign
19	15658340	G	A	G15658340A	CYP4F3	NM_000896.3(CYP4F3):c.1192G>A:p.Val398Ile	coding	Benign
19	15658549	C	T	C15658549T	CYP4F3	NM_000896.3(CYP4F3):c.1308C>T:p.Asp436=	coding	Benign
19	15659210	C	T	C15659210T	CYP4F3	NM_000896.3(CYP4F3):c.1398-10C>T	noncoding	Benign
19	15794466	G	A	G15794466A	OR10H5	NM_001004466.1(OR10H5):c.418G>A:p.Gly140Ser	coding	Benign
19	15794658	T	G	T15794658G	OR10H5	NM_001004466.1(OR10H5):c.610T>G:p.Cys204Gly	coding	Benign
19	15794695	T	C	T15794695C	OR10H5	NM_001004466.1(OR10H5):c.647T>C:p.Leu216Pro	coding	Benign
19	15807198	C	A	C15807198A	OR10H1	NM_013940.3(OR10H1):c.840G>T:p.Thr280=	coding	Benign
19	15807367	G	T	G15807367T	OR10H1	NM_013940.3(OR10H1):c.671C>A:p.Ala224Asp	coding	Benign
19	15807465	G	A	G15807465A	OR10H1	NM_013940.3(OR10H1):c.573C>T:p.Asp191=	coding	Benign
19	15807539	C	T	C15807539T	OR10H1	NM_013940.3(OR10H1):c.499G>A:p.Ala167Thr	coding	Benign
19	15807624	C	A	C15807624A	OR10H1	NM_013940.3(OR10H1):c.414G>T:p.Pro138=	coding	Benign
19	15807673	C	T	C15807673T	OR10H1	NM_013940.3(OR10H1):c.365G>A:p.Arg122His	coding	Benign
19	15807690	G	A	G15807690A	OR10H1	NM_013940.3(OR10H1):c.348C>T:p.Thr116=	coding	Benign
19	15807690	G	C	G15807690C	OR10H1	NM_013940.3(OR10H1):c.348C>G:p.Thr116=	coding	Benign
19	15807837	G	A	G15807837A	OR10H1	NM_013940.3(OR10H1):c.201C>T:p.Ser67=	coding	Benign
19	15807844	G	A	G15807844A	OR10H1	NM_013940.3(OR10H1):c.194C>T:p.Ala65Val	coding	Benign
19	15807884	C	G	C15807884G	OR10H1	NM_013940.3(OR10H1):c.154G>C:p.Glu52Gln	coding	Benign
19	15807996	G	A	G15807996A	OR10H1	NM_013940.3(OR10H1):c.42C>T:p.Leu14=	coding	Benign
19	15879888	C	T	C15879888T	CYP4F2	NM_001082.5(CYP4F2):c.1125G>A:p.Leu375=	coding	Benign
19	15885914	C	T	C15885914T	CYP4F2	NM_001082.5(CYP4F2):c.1115+10G>A	noncoding	Benign
19	15886018	G	C	G15886018C	CYP4F2	NM_001082.5(CYP4F2):c.1021C>G:p.Leu341Val	coding	Benign
19	15892578	G	C	G15892578C	CYP4F2	NM_001082.5(CYP4F2):c.348C>G:p.Ala116=	coding	Benign
19	16076055	G	A	G16076055A	TPM4	NM_001145160.2(TPM4):c.123G>A:p.Glu41=	coding	Benign
19	16153136	C	T	C16153136T	HSH2D	NM_032855.3(HSH2D):c.309C>T:p.Asp103=	coding	Benign
19	16157232	G	A	G16157232A	HSH2D	NM_032855.3(HSH2D):c.497G>A:p.Cys166Tyr	coding	Benign
19	16325565	G	A	G16325565A	KLF2	NM_016270.4(KLF2):c.425G>A:p.Arg142His	coding	Benign
19	16479199	G	A	G16479199A	CALR3	NM_145046.4(CALR3):c.1087C>T:p.Leu363=	coding	Benign
19	16479219	C	A	C16479219A	CALR3	NM_145046.4(CALR3):c.1067G>T:p.Arg356Leu	coding	Benign
19	16479283	A	G	A16479283G	CALR3	NM_145046.4(CALR3):c.1012-9T>C	noncoding	Benign
19	16480653	G	A	G16480653A	CALR3	NM_145046.4(CALR3):c.972C>T:p.Tyr324=	coding	Benign
19	16482507	C	T	C16482507T	CALR3	NM_145046.4(CALR3):c.861G>A:p.Thr287=	coding	Benign
19	16482518	C	T	C16482518T	CALR3	NM_145046.4(CALR3):c.850G>A:p.Asp284Asn	coding	Benign/Likely_benign
19	16482548	C	T	C16482548T	CALR3	NM_145046.4(CALR3):c.820G>A:p.Val274Ile	coding	Benign
19	16482762	G	A	G16482762A	CALR3	NM_145046.4(CALR3):c.702C>T:p.Asp234=	coding	Benign
19	16484014	G	A	G16484014A	CALR3	NM_145046.4(CALR3):c.594C>T:p.Tyr198=	coding	Benign
19	16484121	T	C	T16484121C	CALR3	NM_145046.4(CALR3):c.493-6A>G	noncoding	Benign
19	16485172	G	T	G16485172T	CALR3	NM_145046.4(CALR3):c.483C>A:p.Ile161=	coding	Benign
19	16485263	A	G	A16485263G	CALR3	NM_145046.4(CALR3):c.398-6T>C	noncoding	Benign/Likely_benign
19	16490357	G	A	G16490357A	CALR3	NM_145046.4(CALR3):c.397+10C>T	noncoding	Benign
19	16490383	C	T	C16490383T	CALR3	NM_145046.4(CALR3):c.381G>A:p.Gln127=	coding	Benign
19	16490521	G	A	G16490521A	CALR3	NM_145046.4(CALR3):c.243C>T:p.Phe81=	coding	Benign
19	16495819	T	C	T16495819C	CALR3	NM_145046.4(CALR3):c.125A>G:p.Asn42Ser	coding	Benign/Likely_benign
19	16495848	A	G	A16495848G	CALR3	NM_145046.4(CALR3):c.96T>C:p.His32=	coding	Benign
19	16496070	G	C	G16496070C	CALR3	NM_145046.4(CALR3):c.60C>G:p.Thr20=	coding	Benign/Likely_benign
19	16577059	G	A	G16577059A	MED26	NM_004831.5(MED26):c.771C>T:p.Asp257=	coding	Benign
19	16749190	A	T	A16749190T	NWD1	NM_001007525.5(NWD1):c.548A>T:p.Gln183Leu	coding	Benign
19	16749276	G	A	G16749276A	NWD1	NM_001007525.5(NWD1):c.634G>A:p.Ala212Thr	coding	Benign
19	16749874	C	T	C16749874T	NWD1	NM_001007525.5(NWD1):c.1232C>T:p.Thr411Ile	coding	Benign
19	16763861	G	T	G16763861T	NWD1	NM_001007525.5(NWD1):c.2167G>T:p.Val723Phe	coding	Benign
19	16789118	C	T	C16789118T	NWD1	NM_001007525.5(NWD1):c.2868C>T:p.Pro956=	coding	Benign
19	16799964	G	A	G16799964A	NWD1	NM_001007525.5(NWD1):c.3538G>A:p.Gly1180Ser	coding	Benign
19	16851481	A	G	A16851481G	SIN3B	NM_001297595.2(SIN3B):c.796A>G:p.Ser266Gly	coding	Benign
19	16862913	G	A	G16862913A	SIN3B	NM_001297595.2(SIN3B):c.1266+354G>A	coding	Benign
19	16890234	G	T	G16890234T	F2RL3	NM_003950.4(F2RL3):c.771G>T:p.Leu257=	coding	Benign
19	16890429	C	T	C16890429T	F2RL3	NM_003950.4(F2RL3):c.966C>T:p.Tyr322=	coding	Benign
19	16890573	G	A	G16890573A	F2RL3	NM_003950.4(F2RL3):c.1110G>A:p.Ala370=	coding	Benign
19	16893128	T	C	T16893128C	CPAMD8	NM_015692.5(CPAMD8):c.5638A>G:p.Asn1880Asp	coding	Benign
19	16897810	C	A	C16897810A	CPAMD8	NM_015692.5(CPAMD8):c.4955-9G>T	noncoding	Benign
19	16897999	G	A	G16897999A	CPAMD8	NM_015692.5(CPAMD8):c.4849-5C>T	noncoding	Benign
19	16902736	C	T	C16902736T	CPAMD8	NM_015692.5(CPAMD8):c.4598G>A:p.Arg1533Gln	coding	Benign
19	16903551	A	C	A16903551C	CPAMD8	NM_015692.5(CPAMD8):c.4470+10T>G	noncoding	Benign
19	16903576	G	A	G16903576A	CPAMD8	NM_015692.5(CPAMD8):c.4455C>T:p.Gly1485=	coding	Benign
19	16903624	C	T	C16903624T	CPAMD8	NM_015692.5(CPAMD8):c.4408-1G>A	coding	Pathogenic
19	16903695	C	T	C16903695T	CPAMD8	NM_015692.5(CPAMD8):c.4407+7G>A	noncoding	Benign
19	16904267	A	G	A16904267G	CPAMD8	NM_015692.5(CPAMD8):c.4210T>C:p.Ser1404Pro	coding	Pathogenic
19	16914785	C	T	C16914785T	CPAMD8	NM_015692.5(CPAMD8):c.3658G>A:p.Ala1220Thr	coding	Benign
19	16925214	T	C	T16925214C	CPAMD8	NM_015692.5(CPAMD8):c.3529A>G:p.Thr1177Ala	coding	Benign
19	16928213	A	C	A16928213C	CPAMD8	NM_015692.5(CPAMD8):c.3166T>G:p.Ser1056Ala	coding	Benign
19	16938414	G	A	G16938414A	CPAMD8	NM_015692.5(CPAMD8):c.2826C>T:p.Ser942=	coding	Benign
19	16952092	C	T	C16952092T	CPAMD8	NM_015692.5(CPAMD8):c.2385G>A:p.Glu795=	coding	Benign
19	16957885	G	A	G16957885A	CPAMD8	NM_015692.5(CPAMD8):c.2244C>T:p.Pro748=	coding	Benign
19	16971007	G	T	G16971007T	CPAMD8	NM_015692.5(CPAMD8):c.2097C>A:p.Asp699Glu	coding	Benign
19	16977413	G	A	G16977413A	CPAMD8	NM_015692.5(CPAMD8):c.1713C>T:p.Val571=	coding	Benign
19	16980546	C	T	C16980546T	CPAMD8	NM_015692.5(CPAMD8):c.1536G>A:p.Ala512=	coding	Benign
19	16997242	C	T	C16997242T	CPAMD8	NM_015692.5(CPAMD8):c.964G>A:p.Val322Met	coding	Benign
19	16997317	C	T	C16997317T	CPAMD8	NM_015692.5(CPAMD8):c.889G>A:p.Asp297Asn	coding	Benign
19	17000406	T	C	T17000406C	CPAMD8	NM_015692.5(CPAMD8):c.867+8A>G	noncoding	Benign
19	17011613	C	A	C17011613A	CPAMD8	NM_015692.5(CPAMD8):c.412G>T:p.Val138Leu	coding	Benign
19	17022058	C	T	C17022058T	CPAMD8	NM_015692.5(CPAMD8):c.216G>A:p.Pro72=	coding	Benign
19	17050084	G	A	G17050084A	HAUS8	NM_033417.2(HAUS8):c.1022C>T:p.Ala341Val	coding	Benign
19	17059641	G	A	G17059641A	HAUS8	NM_033417.2(HAUS8):c.336C>T:p.Ile112=	coding	Benign
19	17101884	G	A	G17101884A	MYO9B	NM_001130065.2(MYO9B):c.167G>A:p.Arg56Gln	coding	Benign
19	17102377	C	T	C17102377T	MYO9B	NM_001130065.2(MYO9B):c.660C>T:p.Asp220=	coding	Benign
19	17200417	G	A	G17200417A	MYO9B	NM_001130065.2(MYO9B):c.4363G>A:p.Gly1455Ser	coding	Benign
19	17205327	C	T	C17205327T	MYO9B	NM_001130065.2(MYO9B):c.5055C>T:p.Tyr1685=	coding	Benign
19	17205328	G	A	G17205328A	MYO9B	NM_001130065.2(MYO9B):c.5056G>A:p.Gly1686Arg	coding	Benign
19	17211769	C	T	C17211769T	MYO9B	NM_001130065.2(MYO9B):c.6053C>T:p.Ser2018Leu	coding	Benign
19	17226257	C	A	C17226257A	OCEL1	NM_024578.3(OCEL1):c.10C>A:p.Pro4Thr	coding	Benign
19	17226850	C	G	C17226850G	OCEL1	NM_024578.3(OCEL1):c.227C>G:p.Pro76Arg	coding	Benign
19	17226854	T	A	T17226854A	OCEL1	NM_024578.3(OCEL1):c.231T>A:p.Pro77=	coding	Benign
19	17226993	G	A	G17226993A	OCEL1	NM_024578.3(OCEL1):c.247-1G>A	noncoding	Benign
19	17226993	G	C	G17226993C	OCEL1	NM_024578.3(OCEL1):c.247-1G>C	noncoding	Benign
19	17227993	A	C	A17227993C	OCEL1	NM_024578.3(OCEL1):c.606A>C:p.Pro202=	coding	Benign
19	17228261	G	A	G17228261A	OCEL1	NM_024578.3(OCEL1):c.624G>A:p.Glu208=	coding	Benign
19	17283242	C	T	C17283242T	ANKLE1	NM_152363.6(ANKLE1):c.478C>T:p.Pro160Ser	coding	Benign
19	17284229	G	A	G17284229A	ANKLE1	NM_152363.6(ANKLE1):c.1339G>A:p.Val447Met	coding	Benign
19	17285714	T	G	T17285714G	ANKLE1	NM_152363.6(ANKLE1):c.1570T>G:p.Leu524Val	coding	Benign
19	17337613	T	A	T17337613A	GTPBP3	NM_032620.4(GTPBP3):c.2T>A:p.Met1Lys	coding	Pathogenic
19	17337851	T	C	T17337851C	GTPBP3	NM_032620.4(GTPBP3):c.54-157T>C	noncoding	Benign
19	17338002	T	C	T17338002C	GTPBP3	NM_032620.4(GTPBP3):c.54-6T>C	noncoding	Benign
19	17338051	G	A	G17338051A	GTPBP3	NM_032620.4(GTPBP3):c.97G>A:p.Gly33Ser	coding	Benign
19	17338104	G	T	G17338104T	GTPBP3	NM_032620.4(GTPBP3):c.150G>T:p.Val50=	coding	Benign/Likely_benign
19	17338152	A	C	A17338152C	GTPBP3	NM_032620.4(GTPBP3):c.198A>C:p.Thr66=	coding	Benign
19	17338348	C	G	C17338348G	GTPBP3	NM_032620.4(GTPBP3):c.302-17C>G	noncoding	Benign
19	17338419	C	T	C17338419T	GTPBP3	NM_032620.4(GTPBP3):c.356C>T:p.Pro119Leu	coding	Benign
19	17338626	A	T	A17338626T	GTPBP3	NM_032620.4(GTPBP3):c.476A>T:p.Glu159Val	coding	Pathogenic
19	17338793	C	T	C17338793T	GTPBP3	NM_032620.4(GTPBP3):c.591+52C>T	noncoding	Benign
19	17338890	A	G	A17338890G	GTPBP3	NM_032620.4(GTPBP3):c.592-64A>G	noncoding	Benign
19	17339005	G	T	G17339005T	GTPBP3	NM_032620.4(GTPBP3):c.643G>T:p.Glu215Ter	coding	Pathogenic
19	17339207	T	C	T17339207C	GTPBP3	NM_032620.4(GTPBP3):c.749T>C:p.Val250Ala	coding	Benign
19	17339229	C	T	C17339229T	GTPBP3	NM_032620.4(GTPBP3):c.771C>T:p.Pro257=	coding	Benign
19	17339490	G	T	G17339490T	GTPBP3	NM_032620.4(GTPBP3):c.865G>T:p.Glu289Ter	coding	Pathogenic/Likely_pathogenic
19	17339572	A	G	A17339572G	GTPBP3	NM_032620.4(GTPBP3):c.947A>G:p.Gln316Arg	coding	Benign
19	17340790	T	C	T17340790C	GTPBP3	NM_032620.4(GTPBP3):c.975-254T>C	noncoding	Benign
19	17340822	C	T	C17340822T	GTPBP3	NM_032620.4(GTPBP3):c.975-222C>T	noncoding	Benign
19	17340927	C	T	C17340927T	GTPBP3	NM_032620.4(GTPBP3):c.975-117C>T	noncoding	Benign
19	17341078	G	C	G17341078C	GTPBP3	NM_032620.4(GTPBP3):c.1009G>C:p.Asp337His	coding	Pathogenic
19	17341126	G	A	G17341126A	GTPBP3	NM_032620.4(GTPBP3):c.1057G>A:p.Val353Ile	coding	Benign/Likely_benign
19	17341172	G	A	G17341172A	GTPBP3	NM_032620.4(GTPBP3):c.1103G>A:p.Arg368His	coding	Benign
19	17341244	C	G	C17341244G	GTPBP3	NM_032620.4(GTPBP3):c.1175C>G:p.Pro392Arg	coding	Benign/Likely_benign
19	17341299	G	A	G17341299A	GTPBP3	NM_032620.4(GTPBP3):c.1230G>A:p.Ala410=	coding	Benign
19	17341590	C	T	C17341590T	GTPBP3	NM_032620.4(GTPBP3):c.1366C>T:p.Leu456=	coding	Benign
19	17341599	G	A	G17341599A	GTPBP3	NM_032620.4(GTPBP3):c.1375G>A:p.Glu459Lys	coding	Pathogenic
19	17341718	G	T	G17341718T	GTPBP3	NM_032620.4(GTPBP3):c.*15G>T	noncoding	Benign
19	17360825	G	A	G17360825A	PLVAP	NM_031310.3(PLVAP):c.1187C>T:p.Pro396Leu	coding	Benign
19	17365393	G	A	G17365393A	PLVAP	NM_031310.3(PLVAP):c.1072C>T:p.Arg358Ter	coding	Pathogenic
19	17365477	G	A	G17365477A	PLVAP	NM_031310.3(PLVAP):c.988C>T:p.Gln330Ter	coding	Pathogenic
19	17377188	A	G	A17377188G	PLVAP	NM_031310.3(PLVAP):c.101T>C:p.Leu34Pro	coding	Pathogenic
19	17486848	G	A	G17486848A	SLC27A1	NM_198580.3(SLC27A1):c.453G>A:p.Ala151=	coding	Benign
19	17487313	G	A	G17487313A	SLC27A1	NM_198580.3(SLC27A1):c.702G>A:p.Gln234=	coding	Benign
19	17487537	G	A	G17487537A	SLC27A1	NM_198580.3(SLC27A1):c.794+8G>A	noncoding	Benign
19	17489002	C	A	C17489002A	SLC27A1	NM_198580.3(SLC27A1):c.887-6C>A	noncoding	Benign
19	17500854	C	T	C17500854T	SLC27A1	NM_198580.3(SLC27A1):c.1614C>T:p.Ala538=	coding	Benign
19	17504605	C	T	C17504605T	SLC27A1	NM_198580.3(SLC27A1):c.1934C>T:p.Ala645Val	coding	Benign
19	17546801	A	G	A17546801G	NIBAN3	NM_001321827.2(NIBAN3):c.1666+4A>G	noncoding	Benign
19	17560428	T	G	T17560428G	COLGALT1	NM_024656.4(COLGALT1):c.452T>G:p.Leu151Arg	coding	Pathogenic
19	17560436	G	C	G17560436C	COLGALT1	NM_024656.4(COLGALT1):c.460G>C:p.Ala154Pro	coding	Pathogenic
19	17577463	G	C	G17577463C	COLGALT1	NM_024656.4(COLGALT1):c.1129G>C:p.Gly377Arg	coding	Pathogenic
19	17617745	G	A	G17617745A	UNC13A	NM_001080421.2(UNC13A):c.4515C>T:p.Thr1505=	coding	Benign
19	17618930	C	T	C17618930T	UNC13A	NM_001080421.2(UNC13A):c.4305G>A:p.Glu1435=	coding	Benign
19	17627908	T	C	T17627908C	UNC13A	NM_001080421.2(UNC13A):c.3786A>G:p.Leu1262=	coding	Benign
19	17630262	T	C	T17630262C	UNC13A	NM_001080421.2(UNC13A):c.3552A>G:p.Leu1184=	coding	Benign
19	17632799	G	A	G17632799A	UNC13A	NM_001080421.2(UNC13A):c.3411C>T:p.Arg1137=	coding	Benign
19	17633118	G	A	G17633118A	UNC13A	NM_001080421.2(UNC13A):c.3291C>T:p.Tyr1097=	coding	Benign
19	17639916	G	A	G17639916A	UNC13A	NM_001080421.2(UNC13A):c.2788-8C>T	noncoding	Benign
19	17640595	G	A	G17640595A	UNC13A	NM_001080421.2(UNC13A):c.2703C>T:p.Leu901=	coding	Benign
19	17642938	G	A	G17642938A	UNC13A	NM_001080421.2(UNC13A):c.2379C>T:p.Ala793=	coding	Benign
19	17655298	G	A	G17655298A	UNC13A	NM_001080421.2(UNC13A):c.1368C>T:p.Asn456=	coding	Benign
19	17655978	G	A	G17655978A	UNC13A	NM_001080421.2(UNC13A):c.1188C>T:p.Pro396=	coding	Benign
19	17658052	C	T	C17658052T	UNC13A	NM_001080421.2(UNC13A):c.767+10G>A	noncoding	Benign
19	17668128	C	A	C17668128A	UNC13A	NM_001080421.2(UNC13A):c.457G>T:p.Asp153Tyr	coding	Benign
19	17668133	A	G	A17668133G	UNC13A	NM_001080421.2(UNC13A):c.452T>C:p.Met151Thr	coding	Benign
19	17669587	G	A	G17669587A	UNC13A	NM_001080421.2(UNC13A):c.360C>T:p.Arg120=	coding	Benign
19	17688193	G	A	G17688193A	UNC13A	NM_001080421.2(UNC13A):c.7C>T:p.Leu3=	coding	Benign
19	17726656	C	T	C17726656T	MAP1S	NM_018174.6(MAP1S):c.1272C>T:p.Gly424=	coding	Benign
19	17762834	G	C	G17762834C	FCHO1	NM_001161358.2(FCHO1):c.100G>C:p.Ala34Pro	coding	Pathogenic
19	17766667	A	C	A17766667C	FCHO1	NM_001161358.2(FCHO1):c.195-2A>C	noncoding	Pathogenic
19	17770502	C	T	C17770502T	FCHO1	NM_001161357.2(FCHO1):c.414C>T:p.Arg138=	coding	Benign
19	17770578	G	A	G17770578A	FCHO1	NM_001161358.2(FCHO1):c.489+1G>A	coding	Pathogenic
19	17783027	C	T	C17783027T	FCHO1	NM_001161358.2(FCHO1):c.1948C>T:p.Arg650Ter	coding	Pathogenic
19	17783115	G	C	G17783115C	FCHO1	NM_001161358.2(FCHO1):c.2036G>C:p.Arg679Pro	coding	Pathogenic
19	17807939	C	T	C17807939T	B3GNT3	NM_014256.4(B3GNT3):c.132C>T:p.Pro44=	coding	Benign
19	17811959	C	T	C17811959T	B3GNT3	NM_014256.4(B3GNT3):c.956C>T:p.Thr319Met	coding	Benign
19	17816920	G	C	G17816920C	INSL3	NM_005543.4(INSL3):c.330C>G:p.Asn110Lys	coding	Pathogenic
19	17816945	C	T	C17816945T	INSL3	NM_005543.4(INSL3):c.305G>A:p.Arg102His	coding	Pathogenic
19	17816946	G	A	G17816946A	INSL3	NM_005543.4(INSL3):c.304C>T:p.Arg102Cys	coding	Pathogenic
19	17816972	G	A	G17816972A	INSL3	NM_005543.4(INSL3):c.278C>T:p.Pro93Leu	coding	Pathogenic
19	17817033	G	A	G17817033A	INSL3	NM_005543.4(INSL3):c.217C>T:p.Arg73Ter	coding	Pathogenic
19	17824817	T	C	T17824817C	JAK3	NM_000215.3(JAK3):c.*1926A>G	noncoding	Benign
19	17825321	C	T	C17825321T	JAK3	NM_000215.3(JAK3):c.*1422G>A	noncoding	Benign
19	17825424	C	T	C17825424T	JAK3	NM_000215.4(JAK3):c.*1319G>A	noncoding	Benign
19	17825450	G	A	G17825450A	JAK3	NM_000215.3(JAK3):c.*1293C>T	noncoding	Benign
19	17826491	T	A	T17826491A	JAK3	NM_000215.3(JAK3):c.*252A>T	noncoding	Benign
19	17826605	C	G	C17826605G	JAK3	NM_000215.3(JAK3):c.*138G>C	noncoding	Benign
19	17826620	A	G	A17826620G	JAK3	NM_000215.3(JAK3):c.*123T>C	noncoding	Benign
19	17826707	C	T	C17826707T	JAK3	NM_000215.3(JAK3):c.*36G>A	noncoding	Benign
19	17826818	G	A	G17826818A	JAK3	NM_000215.3(JAK3):c.3300C>T:p.Ser1100=	coding	Benign/Likely_benign
19	17830485	T	C	T17830485C	JAK3	NM_000215.3(JAK3):c.3096+18A>G	noncoding	Benign
19	17830610	C	A	C17830610A	JAK3	NM_000215.3(JAK3):c.2989G>T:p.Glu997Ter	coding	Pathogenic
19	17831213	G	A	G17831213A	JAK3	NM_000215.3(JAK3):c.2978+15C>T	noncoding	Benign
19	17831413	G	A	G17831413A	JAK3	NM_000215.3(JAK3):c.2806-13C>T	noncoding	Benign/Likely_benign
19	17832574	G	A	G17832574A	JAK3	NM_000215.3(JAK3):c.2625C>T:p.Leu875=	coding	Benign
19	17832829	G	A	G17832829A	JAK3	NM_000215.3(JAK3):c.2451C>T:p.Phe817=	coding	Benign/Likely_benign
19	17834662	G	A	G17834662A	JAK3	NM_000215.3(JAK3):c.2259C>T:p.Ala753=	coding	Benign
19	17834686	C	T	C17834686T	JAK3	NM_000215.3(JAK3):c.2235G>A:p.Pro745=	coding	Benign/Likely_benign
19	17834887	C	T	C17834887T	JAK3	NM_000215.3(JAK3):c.2164G>A:p.Val722Ile	coding	Benign/Likely_benign
19	17835135	G	A	G17835135A	JAK3	NM_000215.3(JAK3):c.1995C>T:p.Pro665=	coding	Benign
19	17835245	G	A	G17835245A	JAK3	NM_000215.3(JAK3):c.1915-30C>T	noncoding	Benign
19	17835948	C	T	C17835948T	JAK3	NM_000215.3(JAK3):c.1890G>A:p.Gln630=	coding	Benign/Likely_benign
19	17835995	G	A	G17835995A	JAK3	NM_000215.3(JAK3):c.1843C>T:p.Arg615Cys	coding	Benign/Likely_benign
19	17836001	G	A	G17836001A	JAK3	NM_000215.3(JAK3):c.1837C>T:p.Arg613Ter	coding	Pathogenic
19	17837148	G	A	G17837148A	JAK3	NM_000215.3(JAK3):c.1767C>T:p.Gly589=	coding	Pathogenic/Likely_pathogenic
19	17837150	C	T	C17837150T	JAK3	NM_000215.3(JAK3):c.1765G>A:p.Gly589Ser	coding	Pathogenic
19	17837205	C	T	C17837205T	JAK3	NM_000215.3(JAK3):c.1710G>A:p.Leu570=	coding	Benign
19	17837923	T	C	T17837923C	JAK3	NM_000215.4(JAK3):c.1701+9A>G	noncoding	Benign
19	17837938	G	T	G17837938T	JAK3	NM_000215.3(JAK3):c.1695C>A:p.Cys565Ter	coding	Pathogenic
19	17837988	G	A	G17837988A	JAK3	NM_000215.4(JAK3):c.1645C>T:p.Arg549Ter	coding	Pathogenic
19	17838284	G	A	G17838284A	JAK3	NM_000215.3(JAK3):c.1548C>T:p.Ile516=	coding	Benign
19	17838379	G	A	G17838379A	JAK3	NM_000215.3(JAK3):c.1453C>T:p.Leu485=	coding	Benign
19	17838395	G	A	G17838395A	JAK3	NM_000215.3(JAK3):c.1442-5C>T	noncoding	Benign
19	17839567	G	A	G17839567A	JAK3	NM_000215.3(JAK3):c.1351C>T:p.Arg451Ter	coding	Pathogenic
19	17839585	G	A	G17839585A	JAK3	NM_000215.3(JAK3):c.1333C>T:p.Arg445Ter	coding	Pathogenic
19	17841376	G	T	G17841376T	JAK3	NM_000215.3(JAK3):c.1142+13C>A	noncoding	Benign
19	17841400	G	A	G17841400A	JAK3	NM_000215.3(JAK3):c.1131C>T:p.His377=	coding	Benign/Likely_benign
19	17841511	C	T	C17841511T	JAK3	NM_000215.3(JAK3):c.1020G>A:p.Ser340=	coding	Benign
19	17841512	G	T	G17841512T	JAK3	NM_000215.4(JAK3):c.1019C>A:p.Ser340Ter	coding	Pathogenic
19	17842546	T	G	T17842546G	JAK3	NM_000215.3(JAK3):c.631A>C:p.Arg211=	coding	Benign/Likely_benign
19	17843086	G	T	G17843086T	JAK3	NM_000215.3(JAK3):c.507C>A:p.Asp169Glu	coding	Pathogenic
19	17843406	G	T	G17843406T	JAK3	NM_000215.3(JAK3):c.394C>A:p.Pro132Thr	coding	Benign/Likely_benign
19	17843786	T	C	T17843786C	JAK3	NM_000215.3(JAK3):c.299A>G:p.Tyr100Cys	coding	Pathogenic
19	17843788	C	G	C17843788G	JAK3	NM_000215.3(JAK3):c.297G>C:p.Leu99=	coding	Benign
19	17847968	T	C	T17847968C	JAK3	NM_000215.3(JAK3):c.-36A>G	noncoding	Benign
19	17872596	G	C	G17872596C	SLC5A5	NM_000453.3(SLC5A5):c.277G>C:p.Gly93Arg	coding	Pathogenic
19	17875954	C	T	C17875954T	SLC5A5	NM_000453.3(SLC5A5):c.546C>T:p.Gly182=	coding	Benign/Likely_benign
19	17877823	C	G	C17877823G	SLC5A5	NM_000453.3(SLC5A5):c.799C>G:p.Gln267Glu	coding	Pathogenic
19	17877840	C	A	C17877840A	SLC5A5	NM_000453.3(SLC5A5):c.816C>A:p.Cys272Ter	coding	Pathogenic
19	17877985	C	T	C17877985T	SLC5A5	NM_000453.3(SLC5A5):c.861C>T:p.Val287=	coding	Benign
19	17881961	A	C	A17881961C	SLC5A5	NM_000453.3(SLC5A5):c.1060A>C:p.Thr354Pro	coding	Pathogenic
19	17882160	G	A	G17882160A	SLC5A5	NM_000453.3(SLC5A5):c.1183G>A:p.Gly395Arg	coding	Pathogenic
19	17883699	G	A	G17883699A	SLC5A5	NM_000453.3(SLC5A5):c.1261G>A:p.Gly421Arg	coding	Pathogenic
19	17883713	C	T	C17883713T	SLC5A5	NM_000453.3(SLC5A5):c.1275C>T:p.Gly425=	coding	Benign
19	17883764	A	C	A17883764C	SLC5A5	NM_000453.3(SLC5A5):c.1326A>C:p.Thr442=	coding	Benign
19	17883785	A	G	A17883785G	SLC5A5	NM_000453.3(SLC5A5):c.1329+18A>G	noncoding	Benign
19	17883832	C	G	C17883832G	SLC5A5	NM_000453.3(SLC5A5):c.1330-18C>G	noncoding	Benign
19	17883835	C	T	C17883835T	SLC5A5	NM_000453.3(SLC5A5):c.1330-15C>T	noncoding	Benign/Likely_benign
19	17884027	G	A	G17884027A	SLC5A5	NM_000453.3(SLC5A5):c.1507G>A:p.Asp503Asn	coding	Benign/Likely_benign
19	17888397	C	G	C17888397G	SLC5A5	NM_000453.3(SLC5A5):c.1593C>G:p.Tyr531Ter	coding	Pathogenic
19	17888432	G	A	G17888432A	SLC5A5	NM_000453.3(SLC5A5):c.1628G>A:p.Gly543Glu	coding	Pathogenic
19	17890877	G	A	G17890877A	SLC5A5	NM_000453.3(SLC5A5):c.1652-9G>A	noncoding	Benign
19	17894103	T	C	T17894103C	SLC5A5	NM_000453.3(SLC5A5):c.*226T>C	noncoding	Benign
19	17973978	C	T	C17973978T	KCNN1	NM_002248.4(KCNN1):c.90C>T:p.Ala30=	coding	Benign
19	17982135	C	T	C17982135T	KCNN1	NM_002248.4(KCNN1):c.917+8C>T	noncoding	Benign
19	18059574	G	A	G18059574A	IL12RB1	NM_005535.3(IL12RB1):c.*34C>T	noncoding	Benign
19	18061120	A	C	A18061120C	IL12RB1	NM_005535.3(IL12RB1):c.1791+2T>G	noncoding	Pathogenic
19	18061127	T	C	T18061127C	IL12RB1	NM_005535.3(IL12RB1):c.1786A>G:p.Lys596Glu	coding	Benign
19	18061132	C	T	C18061132T	IL12RB1	NM_005535.3(IL12RB1):c.1781G>A:p.Gly594Glu	coding	Benign
19	18061194	G	A	G18061194A	IL12RB1	NM_005535.3(IL12RB1):c.1719C>T:p.Ala573=	coding	Benign/Likely_benign
19	18063910	C	T	C18063910T	IL12RB1	NM_005535.3(IL12RB1):c.1584G>A:p.Arg528=	coding	Benign
19	18063921	C	T	C18063921T	IL12RB1	NM_005535.3(IL12RB1):c.1573G>A:p.Ala525Thr	coding	Benign
19	18068474	G	A	G18068474A	IL12RB1	NM_005535.3(IL12RB1):c.1242C>T:p.Tyr414=	coding	Benign
19	18069586	G	A	G18069586A	IL12RB1	NM_005535.3(IL12RB1):c.1149C>T:p.Cys383=	coding	Benign
19	18069603	C	G	C18069603G	IL12RB1	NM_005535.3(IL12RB1):c.1132G>C:p.Gly378Arg	coding	Benign
19	18069609	G	A	G18069609A	IL12RB1	NM_005535.3(IL12RB1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
19	18069637	C	T	C18069637T	IL12RB1	NM_005535.3(IL12RB1):c.1098G>A:p.Thr366=	coding	Benign/Likely_benign
19	18069641	A	G	A18069641G	IL12RB1	NM_005535.3(IL12RB1):c.1094T>C:p.Met365Thr	coding	Benign
19	18069679	G	A	G18069679A	IL12RB1	NM_005535.3(IL12RB1):c.1056C>T:p.Asn352=	coding	Benign
19	18072111	C	G	C18072111G	IL12RB1	NM_005535.3(IL12RB1):c.1021+1G>C	noncoding	Pathogenic
19	18072171	G	T	G18072171T	IL12RB1	NM_005535.3(IL12RB1):c.962C>A:p.Ser321Ter	coding	Pathogenic
19	18072220	T	A	T18072220A	IL12RB1	NM_005535.3(IL12RB1):c.913A>T:p.Lys305Ter	coding	Pathogenic
19	18072285	C	T	C18072285T	IL12RB1	NM_005535.3(IL12RB1):c.848G>A:p.Arg283Gln	coding	Benign
19	18072286	G	A	G18072286A	IL12RB1	NM_005535.3(IL12RB1):c.847C>T:p.Arg283Ter	coding	Pathogenic
19	18073507	G	A	G18073507A	IL12RB1	NM_005535.3(IL12RB1):c.783+10C>T	noncoding	Benign/Likely_benign
19	18075765	G	A	G18075765A	IL12RB1	NM_005535.3(IL12RB1):c.684C>T:p.Pro228=	coding	Benign
19	18075808	T	C	T18075808C	IL12RB1	NM_005535.3(IL12RB1):c.641A>G:p.Gln214Arg	coding	Benign/Likely_benign
19	18075812	G	A	G18075812A	IL12RB1	NM_005535.3(IL12RB1):c.637C>T:p.Arg213Trp	coding	Pathogenic
19	18075857	A	G	A18075857G	IL12RB1	NM_005535.3(IL12RB1):c.592T>C:p.Cys198Arg	coding	Pathogenic
19	18076318	C	A	C18076318A	IL12RB1	NM_005535.3(IL12RB1):c.559G>T:p.Gly187Ter	coding	Pathogenic
19	18077598	C	T	C18077598T	IL12RB1	NM_005535.3(IL12RB1):c.467G>A:p.Arg156His	coding	Benign/Likely_benign
19	18080854	C	G	C18080854G	IL12RB1	NM_005535.3(IL12RB1):c.387G>C:p.Val129=	coding	Benign
19	18080970	C	T	C18080970T	IL12RB1	NM_005535.3(IL12RB1):c.271G>A:p.Ala91Thr	coding	Benign
19	18080977	G	C	G18080977C	IL12RB1	NM_005535.3(IL12RB1):c.264C>G:p.Tyr88Ter	coding	Pathogenic
19	18082209	G	A	G18082209A	IL12RB1	NM_005535.3(IL12RB1):c.180C>T:p.Tyr60=	coding	Benign/Likely_benign
19	18082250	G	A	G18082250A	IL12RB1	NM_005535.3(IL12RB1):c.139C>T:p.Pro47Ser	coding	Benign
19	18082260	C	T	C18082260T	IL12RB1	NM_005535.3(IL12RB1):c.129G>A:p.Ser43=	coding	Benign
19	18083454	C	T	C18083454T	IL12RB1	NM_005535.3(IL12RB1):c.102G>A:p.Pro34=	coding	Benign
19	18083462	G	A	G18083462A	IL12RB1	NM_005535.3(IL12RB1):c.94C>T:p.Gln32Ter	coding	Pathogenic
19	18086825	G	A	G18086825A	IL12RB1	NM_005535.3(IL12RB1):c.-2C>T	coding	Benign
19	18086934	T	A	T18086934A	IL12RB1	NM_005535.3(IL12RB1):c.-111A>T	coding	Benign
19	18134696	G	A	G18134696A	MAST3	NM_015016.2(MAST3):c.1602G>A:p.Glu534=	coding	Benign
19	18135783	C	T	C18135783T	MAST3	NM_015016.2(MAST3):c.1827C>T:p.Asp609=	coding	Benign
19	18155889	C	T	C18155889T	PIK3R2	NM_005027.4(PIK3R2):c.10C>T:p.Pro4Ser	coding	Benign
19	18156039	G	A	G18156039A	PIK3R2	NM_005027.4(PIK3R2):c.160G>A:p.Val54Met	coding	Benign
19	18156170	C	T	C18156170T	PIK3R2	NM_005027.4(PIK3R2):c.291C>T:p.Pro97=	coding	Benign
19	18160954	C	T	C18160954T	PIK3R2	NM_005027.4(PIK3R2):c.451C>T:p.Pro151Ser	coding	Benign
19	18161186	G	A	G18161186A	PIK3R2	NM_005027.4(PIK3R2):c.598+1G>A	coding	Pathogenic
19	18161380	A	C	A18161380C	PIK3R2	NM_005027.4(PIK3R2):c.700A>C:p.Ser234Arg	coding	Benign
19	18161967	A	T	A18161967T	PIK3R2	NM_005027.4(PIK3R2):c.817A>T:p.Ser273Cys	coding	Benign/Likely_benign
19	18161993	G	A	G18161993A	PIK3R2	NM_005027.4(PIK3R2):c.843G>A:p.Ala281=	coding	Benign
19	18162203	G	A	G18162203A	PIK3R2	NM_005027.4(PIK3R2):c.903G>A:p.Ala301=	coding	Benign
19	18162237	T	C	T18162237C	PIK3R2	NM_005027.4(PIK3R2):c.937T>C:p.Ser313Pro	coding	Benign
19	18162420	C	T	C18162420T	PIK3R2	NM_005027.4(PIK3R2):c.1023C>T:p.Asn341=	coding	Benign/Likely_benign
19	18162974	G	A	G18162974A	PIK3R2	NM_005027.4(PIK3R2):c.1117G>A:p.Gly373Arg	coding	Pathogenic/Likely_pathogenic
19	18162983	A	G	A18162983G	PIK3R2	NM_005027.4(PIK3R2):c.1126A>G:p.Lys376Glu	coding	Pathogenic
19	18163059	T	C	T18163059C	PIK3R2	NM_005027.4(PIK3R2):c.1202T>C:p.Leu401Pro	coding	Pathogenic
19	18163072	C	T	C18163072T	PIK3R2	NM_005027.4(PIK3R2):c.1215C>T:p.Tyr405=	coding	Benign
19	18167213	C	T	C18167213T	PIK3R2	NM_005027.4(PIK3R2):c.1643C>T:p.Ala548Val	coding	Benign
19	18167239	G	C	G18167239C	PIK3R2	NM_005027.4(PIK3R2):c.1669G>C:p.Asp557His	coding	Pathogenic
19	18167260	A	G	A18167260G	PIK3R2	NM_005027.4(PIK3R2):c.1690A>G:p.Lys564Glu	coding	Pathogenic
19	18167264	C	G	C18167264G	PIK3R2	NM_005027.4(PIK3R2):c.1694C>G:p.Pro565Arg	coding	Pathogenic/Likely_pathogenic
19	18168762	G	A	G18168762A	PIK3R2	NM_005027.4(PIK3R2):c.1845G>A:p.Pro615=	coding	Benign
19	18168828	T	C	T18168828C	PIK3R2	NM_005027.4(PIK3R2):c.1911T>C:p.Ser637=	coding	Benign
19	18168855	C	T	C18168855T	PIK3R2	NM_005027.4(PIK3R2):c.1938C>T:p.Ile646=	coding	Benign
19	18168870	G	A	G18168870A	PIK3R2	NM_005027.4(PIK3R2):c.1953G>A:p.Gln651=	coding	Benign
19	18169187	C	T	C18169187T	PIK3R2	NM_005027.4(PIK3R2):c.2080C>T:p.Leu694=	coding	Benign
19	18169234	C	T	C18169234T	PIK3R2	NM_005027.4(PIK3R2):c.2127C>T:p.Thr709=	coding	Benign
19	18169270	C	T	C18169270T	PIK3R2	NM_005027.4(PIK3R2):c.2163C>T:p.Pro721=	coding	Benign
19	18169286	G	A	G18169286A	PIK3R2	NM_005027.4(PIK3R2):c.2179G>A:p.Ala727Thr	coding	Benign
19	18219334	C	T	C18219334T	PDE4C	NM_000923.5(PDE4C):c.866G>A:p.Arg289Gln	coding	Benign
19	18222183	T	C	T18222183C	PDE4C	NM_000923.5(PDE4C):c.383A>G:p.Tyr128Cys	coding	Benign
19	18280660	C	A	C18280660A	JUND	NM_005354.6(JUND):c.825G>T:p.Arg275=	coding	Benign
19	18386195	C	T	C18386195T	GDF15	NM_004864.4(GDF15):c.6C>T:p.Pro2=	coding	Benign
19	18388357	G	A	G18388357A	GDF15	NM_004864.4(GDF15):c.349G>A:p.Ala117Thr	coding	Benign
19	18388358	C	A	C18388358A	GDF15	NM_004864.4(GDF15):c.350C>A:p.Ala117Asp	coding	Benign
19	18388480	C	A	C18388480A	GDF15	NM_004864.4(GDF15):c.472C>A:p.Arg158=	coding	Benign
19	18396264	G	T	G18396264T	LRRC25	NM_145256.3(LRRC25):c.700C>A:p.Pro234Thr	coding	Benign
19	18434964	G	A	G18434964A	ISYNA1	NM_016368.5(ISYNA1):c.1626C>T:p.Thr542=	coding	Benign
19	18436134	G	A	G18436134A	ISYNA1	NM_016368.5(ISYNA1):c.873C>T:p.Leu291=	coding	Benign
19	18436399	G	A	G18436399A	ISYNA1	NM_016368.5(ISYNA1):c.690C>T:p.Asn230=	coding	Benign
19	18436454	C	T	C18436454T	ISYNA1	NM_016368.5(ISYNA1):c.635G>A:p.Arg212Gln	coding	Benign
19	18436676	G	A	G18436676A	ISYNA1	NM_016368.5(ISYNA1):c.609+8C>T	noncoding	Benign
19	18593575	A	G	A18593575G	CRLF1	NM_004750.5(CRLF1):c.1260T>C:p.Pro420=	coding	Benign
19	18594338	A	C	A18594338C	CRLF1	NM_004750.5(CRLF1):c.1121T>G:p.Leu374Arg	coding	Pathogenic
19	18594357	T	A	T18594357A	CRLF1	NM_004750.5(CRLF1):c.1102A>T:p.Lys368Ter	coding	Pathogenic
19	18596711	C	T	C18596711T	CRLF1	NM_004750.5(CRLF1):c.935G>A:p.Arg312His	coding	Pathogenic
19	18596895	C	A	C18596895A	CRLF1	NM_004750.5(CRLF1):c.852G>T:p.Trp284Cys	coding	Pathogenic
19	18596918	G	A	G18596918A	CRLF1	NM_004750.5(CRLF1):c.829C>T:p.Arg277Ter	coding	Pathogenic
19	18598591	G	A	G18598591A	CRLF1	NM_004750.5(CRLF1):c.538C>T:p.Gln180Ter	coding	Pathogenic
19	18598605	C	T	C18598605T	CRLF1	NM_004750.5(CRLF1):c.528-4G>A	noncoding	Benign/Likely_benign
19	18598767	C	T	C18598767T	CRLF1	NM_004750.5(CRLF1):c.527+5G>A	noncoding	Pathogenic
19	18598852	C	T	C18598852T	CRLF1	NM_004750.5(CRLF1):c.447G>A:p.Lys149=	coding	Benign
19	18598886	G	A	G18598886A	CRLF1	NM_004750.5(CRLF1):c.413C>T:p.Pro138Leu	coding	Pathogenic
19	18599564	C	T	C18599564T	CRLF1	NM_004750.5(CRLF1):c.397+1G>A	noncoding	Pathogenic
19	18599640	G	A	G18599640A	CRLF1	NM_004750.5(CRLF1):c.322C>T:p.Gln108Ter	coding	Pathogenic
19	18599651	T	C	T18599651C	CRLF1	NM_004750.5(CRLF1):c.311A>G:p.Asn104Ser	coding	Benign
19	18599720	C	T	C18599720T	CRLF1	NM_004750.5(CRLF1):c.242G>A:p.Arg81His	coding	Benign
19	18599736	A	C	A18599736C	CRLF1	NM_004750.5(CRLF1):c.226T>G:p.Trp76Gly	coding	Pathogenic
19	18616076	C	T	C18616076T	TMEM59L	NM_012109.3(TMEM59L):c.510C>T:p.Ser170=	coding	Benign
19	18753490	A	G	A18753490G	CRTC1	NM_015321.3(CRTC1):c.539-10A>G	noncoding	Benign
19	18760188	G	A	G18760188A	CRTC1	NM_015321.3(CRTC1):c.846G>A:p.Ala282=	coding	Benign
19	18782823	C	T	C18782823T	COMP	NM_000095.3(COMP):c.*92G>A	noncoding	Benign
19	18782900	T	C	T18782900C	COMP	NM_000095.3(COMP):c.*15A>G	noncoding	Benign
19	18782914	C	G	C18782914G	COMP	NM_000095.3(COMP):c.*1G>C	noncoding	Benign
19	18782922	T	C	T18782922C	COMP	NM_000095.3(COMP):c.2267A>G:p.Gln756Arg	coding	Benign
19	18782927	C	T	C18782927T	COMP	NM_000095.3(COMP):c.2262G>A:p.Leu754=	coding	Benign
19	18783001	A	G	A18783001G	COMP	NM_000095.3(COMP):c.2228-40T>C	noncoding	Benign
19	18783046	C	T	C18783046T	COMP	NM_000095.3(COMP):c.2227+8G>A	noncoding	Benign/Likely_benign
19	18783125	C	T	C18783125T	COMP	NM_000095.3(COMP):c.2156G>A:p.Gly719Asp	coding	Pathogenic
19	18783126	C	T	C18783126T	COMP	NM_000095.3(COMP):c.2155G>A:p.Gly719Ser	coding	Pathogenic
19	18783128	C	G	C18783128G	COMP	NM_000095.3(COMP):c.2153G>C:p.Arg718Pro	coding	Pathogenic
19	18783129	G	A	G18783129A	COMP	NM_000095.3(COMP):c.2152C>T:p.Arg718Trp	coding	Pathogenic
19	18783129	G	T	G18783129T	COMP	NM_000095.3(COMP):c.2152C>A:p.Arg718=	coding	Benign
19	18784236	G	C	G18784236C	COMP	NM_000095.3(COMP):c.2042C>G:p.Ser681Cys	coding	Pathogenic
19	18784322	G	A	G18784322A	COMP	NM_000095.3(COMP):c.1956C>T:p.Asn652=	coding	Benign
19	18784408	G	A	G18784408A	COMP	NM_000095.3(COMP):c.1915-45C>T	noncoding	Benign
19	18784980	G	A	G18784980A	COMP	NM_000095.3(COMP):c.1830C>T:p.Tyr610=	coding	Benign
19	18784997	C	T	C18784997T	COMP	NM_000095.3(COMP):c.1813G>A:p.Asp605Asn	coding	Pathogenic
19	18785055	C	T	C18785055T	COMP	NM_000095.3(COMP):c.1755G>A:p.Thr585=	coding	Benign
19	18785056	G	A	G18785056A	COMP	NM_000095.3(COMP):c.1754C>T:p.Thr585Met	coding	Pathogenic
19	18785056	G	C	G18785056C	COMP	NM_000095.3(COMP):c.1754C>G:p.Thr585Arg	coding	Pathogenic
19	18785056	G	T	G18785056T	COMP	NM_000095.3(COMP):c.1754C>A:p.Thr585Lys	coding	Pathogenic
19	18785063	C	T	C18785063T	COMP	NM_000095.3(COMP):c.1747G>A:p.Glu583Lys	coding	Pathogenic
19	18785070	C	T	C18785070T	COMP	NM_000095.3(COMP):c.1740G>A:p.Val580=	coding	Benign
19	18785660	A	C	A18785660C	COMP	NM_000095.3(COMP):c.1668+13T>G	noncoding	Benign
19	18785660	A	T	A18785660T	COMP	NM_000095.3(COMP):c.1668+13T>A	noncoding	Benign
19	18785676	G	T	G18785676T	COMP	NM_000095.3(COMP):c.1665C>A:p.Asn555Lys	coding	Pathogenic
19	18785789	C	G	C18785789G	COMP	NM_000095.3(COMP):c.1552G>C:p.Asp518His	coding	Pathogenic
19	18785839	C	T	C18785839T	COMP	NM_000095.3(COMP):c.1502G>A:p.Gly501Asp	coding	Pathogenic/Likely_pathogenic
19	18785966	G	T	G18785966T	COMP	NM_000095.3(COMP):c.1488C>A:p.Asp496Glu	coding	Benign/Likely_benign
19	18786036	T	C	T18786036C	COMP	NM_000095.3(COMP):c.1418A>G:p.Asp473Gly	coding	Pathogenic
19	18786040	C	A	C18786040A	COMP	NM_000095.3(COMP):c.1414G>T:p.Asp472Tyr	coding	Pathogenic
19	18786051	C	T	C18786051T	COMP	NM_000095.3(COMP):c.1403G>A:p.Cys468Tyr	coding	Pathogenic
19	18786096	T	C	T18786096C	COMP	NM_000095.3(COMP):c.1358A>G:p.Asn453Ser	coding	Pathogenic
19	18786296	G	A	G18786296A	COMP	NM_000095.3(COMP):c.1255-5C>T	noncoding	Benign
19	18786630	T	C	T18786630C	COMP	NM_000095.3(COMP):c.1156A>G:p.Asn386Asp	coding	Benign
19	18786633	C	A	C18786633A	COMP	NM_000095.3(COMP):c.1153G>T:p.Asp385Tyr	coding	Pathogenic
19	18787584	A	G	A18787584G	COMP	NM_000095.3(COMP):c.1042T>C:p.Cys348Arg	coding	Pathogenic
19	18787602	C	A	C18787602A	COMP	NM_000095.3(COMP):c.1024G>T:p.Asp342Tyr	coding	Pathogenic
19	18787632	G	T	G18787632T	COMP	NM_000095.3(COMP):c.994C>A:p.Arg332=	coding	Benign
19	18787644	A	G	A18787644G	COMP	NM_000095.3(COMP):c.982T>C:p.Cys328Arg	coding	Pathogenic
19	18788263	G	A	G18788263A	COMP	NM_000095.3(COMP):c.924C>T:p.Ile308=	coding	Benign/Likely_benign
19	18788312	C	A	C18788312A	COMP	NM_000095.3(COMP):c.875G>T:p.Cys292Phe	coding	Pathogenic
19	18788580	G	T	G18788580T	COMP	NM_000095.3(COMP):c.762+12C>A	noncoding	Benign/Likely_benign
19	18789177	C	T	C18789177T	COMP	NM_000095.3(COMP):c.511G>A:p.Ala171Thr	coding	Benign
19	18789220	C	A	C18789220A	COMP	NM_000095.3(COMP):c.468G>T:p.Pro156=	coding	Benign
19	18789972	G	A	G18789972A	COMP	NM_000095.3(COMP):c.360C>T:p.Gly120=	coding	Benign/Likely_benign
19	18790053	G	T	G18790053T	COMP	NM_000095.3(COMP):c.279C>A:p.Pro93=	coding	Benign
19	18790120	G	C	G18790120C	COMP	NM_000095.3(COMP):c.218-6C>G	noncoding	Benign/Likely_benign
19	18790128	G	A	G18790128A	COMP	NM_000095.3(COMP):c.218-14C>T	noncoding	Benign
19	18790584	C	T	C18790584T	COMP	NM_000095.3(COMP):c.195G>A:p.Thr65=	coding	Benign
19	18790809	C	G	C18790809G	COMP	NM_000095.3(COMP):c.165+41G>C	noncoding	Benign
19	18791278	C	A	C18791278A	COMP	NM_000095.3(COMP):c.-9G>T	noncoding	Benign/Likely_benign
19	18850678	C	T	C18850678T	UPF1	NM_002911.4(UPF1):c.630-10C>T	noncoding	Benign
19	18854695	G	A	G18854695A	UPF1	NM_002911.4(UPF1):c.1251G>A:p.Ser417=	coding	Benign
19	18856015	C	T	C18856015T	UPF1	NM_002911.4(UPF1):c.1635C>T:p.Cys545=	coding	Benign
19	18856921	G	A	G18856921A	UPF1	NM_002911.4(UPF1):c.1869G>A:p.Pro623=	coding	Benign
19	18860385	C	T	C18860385T	UPF1	NM_002911.4(UPF1):c.2247C>T:p.Tyr749=	coding	Benign
19	18865675	C	T	C18865675T	UPF1	NM_002911.4(UPF1):c.3134C>T:p.Ala1045Val	coding	Benign
19	18868916	C	T	C18868916T	GDF1	NM_001492.6(GDF1):c.800G>A:p.Cys267Tyr	coding	Pathogenic
19	18869035	G	T	G18869035T	GDF1	NM_001492.6(GDF1):c.681C>A:p.Cys227Ter	coding	Pathogenic
19	18869328	C	T	C18869328T	GDF1	NM_001492.6(GDF1):c.388G>A:p.Val130Ile	coding	Benign
19	18869363	G	A	G18869363A	GDF1	NM_001492.6(GDF1):c.353C>T:p.Ala118Val	coding	Benign
19	18869398	G	A	G18869398A	GDF1	NM_001492.6(GDF1):c.326-8C>T	noncoding	Benign
19	18869404	A	G	A18869404G	GDF1	NM_001492.6(GDF1):c.326-14T>C	noncoding	Benign
19	18869963	C	T	C18869963T	GDF1	NM_001492.6(GDF1):c.325+20G>A	noncoding	Benign
19	18879050	G	A	G18879050A	GDF1	NM_001492.6(GDF1):c.-422-11C>T	noncoding	Benign
19	18884128	G	C	G18884128C	CERS1	NM_001492.6(GDF1):c.-774C>G	coding	Pathogenic
19	18884185	G	A	G18884185A	CERS1	NM_001492.6(GDF1):c.-831C>T	coding	Benign
19	18884227	G	A	G18884227A	CERS1	NM_001492.6(GDF1):c.-873C>T	coding	Benign
19	18884248	T	C	T18884248C	CERS1;GDF1	NM_001492.6(GDF1):c.-894A>G	coding	Benign
19	18893551	G	A	G18893551A	CERS1	NM_001492.6(GDF1):c.-1049C>T	coding	Pathogenic
19	18895839	A	G	A18895839G	GDF1	NM_001492.6(GDF1):c.-1089T>C	coding	Benign
19	18895857	G	C	G18895857C	GDF1	NM_001492.6(GDF1):c.-1107C>G	coding	Benign
19	18931539	C	T	C18931539T	HOMER3	NM_004838.4(HOMER3):c.777G>A:p.Gln259=	coding	Benign
19	18931578	A	G	A18931578G	HOMER3	NM_004838.4(HOMER3):c.738T>C:p.Gly246=	coding	Benign
19	18933049	G	T	G18933049T	HOMER3	NM_004838.4(HOMER3):c.412-4C>A	noncoding	Benign
19	19105729	T	A	T19105729A	SLC25A42	NM_178526.5(SLC25A42):c.380+2T>A	noncoding	Pathogenic
19	19110790	A	G	A19110790G	SLC25A42	NM_178526.5(SLC25A42):c.871A>G:p.Asn291Asp	coding	Pathogenic/Likely_pathogenic
19	19147124	G	T	G19147124T	MEF2B	NM_001145785.2(MEF2B):c.453C>A:p.Gly151=	coding	Benign
19	19194090	G	C	G19194090C	RFXANK	NM_003721.4(RFXANK):c.144G>C:p.Glu48Asp	coding	Benign/Likely_benign
19	19197007	C	T	C19197007T	RFXANK	NM_003721.4(RFXANK):c.232C>T:p.Arg78Ter	coding	Pathogenic
19	19197255	C	T	C19197255T	RFXANK	NM_003721.4(RFXANK):c.337+4C>T	noncoding	Benign/Likely_benign
19	19197545	A	T	A19197545T	RFXANK	NM_003721.4(RFXANK):c.362A>T:p.Asp121Val	coding	Pathogenic/Likely_pathogenic
19	19197622	G	T	G19197622T	RFXANK	NM_003721.4(RFXANK):c.438+1G>T	coding	Pathogenic
19	19198226	T	A	T19198226A	RFXANK	NM_003721.4(RFXANK):c.558T>A:p.Tyr186Ter	coding	Pathogenic/Likely_pathogenic
19	19199238	A	G	A19199238G	RFXANK	NM_003721.4(RFXANK):c.712+4A>G	noncoding	Benign/Likely_benign
19	19201687	C	G	C19201687G	RFXANK	NM_003721.4(RFXANK):c.751C>G:p.Gln251Glu	coding	Benign/Likely_benign
19	19201731	C	T	C19201731T	RFXANK	NM_003721.4(RFXANK):c.*12C>T	coding	Benign
19	19219213	G	A	G19219213A	NCAN	NM_004386.3(NCAN):c.372G>A:p.Thr124=	coding	Benign
19	19233883	C	T	C19233883T	NCAN	NM_004386.3(NCAN):c.3114C>T:p.Phe1038=	coding	Benign
19	19249773	T	G	T19249773G	NCAN	NM_004386.3(NCAN):c.3828T>G:p.Arg1276=	coding	Benign
19	19257952	G	A	G19257952A	HAPLN4	NM_023002.3(HAPLN4):c.1074C>T:p.Leu358=	coding	Benign
19	19258680	T	C	T19258680C	HAPLN4	NM_023002.3(HAPLN4):c.660A>G:p.Gln220=	coding	Benign
19	19269759	G	A	G19269759A	TM6SF2	NM_001001524.3(TM6SF2):c.412C>T:p.Arg138Trp	coding	Benign
19	19271131	G	C	G19271131C	TM6SF2	NM_001001524.3(TM6SF2):c.96-6C>G	noncoding	Benign
19	19501404	C	T	C19501404T	GATAD2A	NM_001300946.2(GATAD2A):c.1491C>T:p.Pro497=	coding	Benign
19	19516253	G	C	G19516253C	NDUFA13	NM_015965.7(NDUFA13):c.15G>C:p.Lys5Asn	coding	Pathogenic
19	19526257	G	A	G19526257A	NDUFA13	NM_015965.7(NDUFA13):c.170G>A:p.Arg57His	coding	Pathogenic
19	19624439	A	G	A19624439G	LPAR2	NM_004720.6(LPAR2):c.873T>C:p.Asn291=	coding	Benign
19	19626578	G	A	G19626578A	LPAR2	NM_004720.6(LPAR2):c.707C>T:p.Thr236Met	coding	Benign
19	19626745	G	A	G19626745A	LPAR2	NM_004720.6(LPAR2):c.540C>T:p.Arg180=	coding	Benign
19	19626871	C	T	C19626871T	LPAR2	NM_004720.6(LPAR2):c.414G>A:p.Leu138=	coding	Benign
19	19627183	G	A	G19627183A	LPAR2	NM_004720.6(LPAR2):c.102C>T:p.Val34=	coding	Benign
19	19645461	C	T	C19645461T	ATP13A1	NM_020410.3(ATP13A1):c.3576G>A:p.Gln1192=	coding	Benign
19	19646264	A	C	A19646264C	ATP13A1	NM_020410.3(ATP13A1):c.3189T>G:p.Phe1063Leu	coding	Benign
19	19647752	C	A	C19647752A	ATP13A1	NM_020410.3(ATP13A1):c.2640G>T:p.Ala880=	coding	Benign
19	19649589	G	A	G19649589A	ATP13A1	NM_020410.3(ATP13A1):c.2610C>T:p.Gly870=	coding	Benign
19	19649912	G	A	G19649912A	ATP13A1	NM_020410.3(ATP13A1):c.2364C>T:p.Asp788=	coding	Benign
19	19654690	C	T	C19654690T	ATP13A1	NM_020410.3(ATP13A1):c.1666G>A:p.Glu556Lys	coding	Benign
19	19656675	G	A	G19656675A	ATP13A1	NM_020410.3(ATP13A1):c.1068C>T:p.Ser356=	coding	Benign
19	19657090	T	C	T19657090C	ATP13A1	NM_020410.3(ATP13A1):c.810A>G:p.Leu270=	coding	Benign
19	29207763	G	A	G29207763A	UQCRFS1	NM_006003.3(UQCRFS1):c.610C>T:p.Arg204Ter	coding	Pathogenic
19	29207902	G	A	G29207902A	UQCRFS1	NM_006003.3(UQCRFS1):c.471C>T:p.Ser157=	coding	Benign
19	29208159	C	G	C29208159G	UQCRFS1	NM_006003.3(UQCRFS1):c.215-1G>C	coding	Pathogenic
19	29213078	A	T	A29213078T	UQCRFS1	NM_006003.3(UQCRFS1):c.41T>A:p.Val14Asp	coding	Pathogenic
19	29530187	G	C	G29530187C	VSTM2B	NM_001146339.1(VSTM2B):c.666G>C:p.Ser222=	coding	Benign
19	29673890	A	G	A29673890G	PLEKHF1	NM_024310.5(PLEKHF1):c.51A>G:p.Ala17=	coding	Benign
19	29674083	C	T	C29674083T	PLEKHF1	NM_024310.5(PLEKHF1):c.244C>T:p.Leu82=	coding	Benign
19	29674277	G	A	G29674277A	PLEKHF1	NM_024310.5(PLEKHF1):c.438G>A:p.Ala146=	coding	Benign
19	29674486	G	A	G29674486A	PLEKHF1	NM_024310.5(PLEKHF1):c.647G>A:p.Arg216Gln	coding	Benign
19	29699751	A	G	A29699751G	C19orf12	NM_001256047.1(C19orf12):c.*2961T>C	noncoding	Benign
19	29699819	C	T	C29699819T	C19orf12	NM_001256047.1(C19orf12):c.*2893G>A	noncoding	Benign
19	29699934	G	A	G29699934A	C19orf12	NM_031448.6(C19orf12):c.*2778C>T	noncoding	Benign
19	29699949	T	C	T29699949C	C19orf12	NM_001256047.1(C19orf12):c.*2763A>G	noncoding	Benign
19	29700050	G	A	G29700050A	C19orf12	NM_001256047.1(C19orf12):c.*2662C>T	noncoding	Benign
19	29700526	G	A	G29700526A	C19orf12	NM_001256047.1(C19orf12):c.*2186C>T	noncoding	Benign
19	29700595	C	T	C29700595T	C19orf12	NM_031448.6(C19orf12):c.*2117G>A	noncoding	Benign
19	29700612	C	A	C29700612A	C19orf12	NM_001256047.1(C19orf12):c.*2100G>T	noncoding	Benign
19	29701026	A	G	A29701026G	C19orf12	NM_001256047.1(C19orf12):c.*1686T>C	noncoding	Benign
19	29701046	C	T	C29701046T	C19orf12	NM_031448.6(C19orf12):c.*1666G>A	noncoding	Benign
19	29701598	G	C	G29701598C	C19orf12	NM_001256047.1(C19orf12):c.*1114C>G	noncoding	Benign
19	29702133	G	A	G29702133A	C19orf12	NM_031448.6(C19orf12):c.*579C>T	noncoding	Benign
19	29702275	G	C	G29702275C	C19orf12	NM_001256047.1(C19orf12):c.*437C>G	noncoding	Benign
19	29702628	G	A	G29702628A	C19orf12	NM_001256047.1(C19orf12):c.*84C>T	noncoding	Benign
19	29702665	A	G	A29702665G	C19orf12	NM_001256047.1(C19orf12):c.*47T>C	noncoding	Benign
19	29702746	T	G	T29702746G	C19orf12	NM_001031726.3(C19orf12):c.425A>C:p.Lys142Thr	coding	Benign
19	29702776	A	T	A29702776T	C19orf12	NM_001256047.1(C19orf12):c.362T>A:p.Leu121Gln	coding	Pathogenic
19	29702814	G	A	G29702814A	C19orf12	NM_031448.5(C19orf12):c.324C>T:p.Thr108=	coding	Benign
19	29702922	C	T	C29702922T	C19orf12	NM_001031726.3(C19orf12):c.249G>A:p.Pro83=	coding	Benign/Likely_benign
19	29702923	G	A	G29702923A	C19orf12	NM_001256047.1(C19orf12):c.215C>T:p.Pro72Leu	coding	Pathogenic
19	29702933	G	A	G29702933A	C19orf12	NM_001031726.3(C19orf12):c.238C>T:p.Gln80Ter	coding	Pathogenic/Likely_pathogenic
19	29702966	C	T	C29702966T	C19orf12	NM_001031726.3(C19orf12):c.205G>A:p.Gly69Arg	coding	Pathogenic/Likely_pathogenic
19	29702977	C	T	C29702977T	C19orf12	NM_001256047.1(C19orf12):c.161G>A:p.Gly54Glu	coding	Pathogenic
19	29708147	G	A	G29708147A	C19orf12	NM_001031726.3(C19orf12):c.193+107C>T	noncoding	Benign
19	29708345	C	T	C29708345T	C19orf12	NM_031448.5(C19orf12):c.69G>A:p.Ala23=	coding	Benign/Likely_benign
19	29708415	G	A	G29708415A	C19orf12	NM_001031726.3(C19orf12):c.32C>T:p.Thr11Met	coding	Pathogenic/Likely_pathogenic
19	29708423	C	G	C29708423G	C19orf12	NM_001256047.1(C19orf12):c.-10G>C	coding	Pathogenic
19	29714944	A	G	A29714944G	C19orf12	NM_001031726.3(C19orf12):c.-15T>C	noncoding	Benign/Likely_benign
19	29923724	C	A	C29923724A	URI1	NM_001252641.2(URI1):c.33C>A:p.His11Gln	coding	Benign
19	30009016	C	T	C30009016T	URI1	NM_003796.3(URI1):c.698C>T:p.Thr233Ile	coding	Benign
19	30014922	A	G	A30014922G	URI1	NM_003796.3(URI1):c.1461A>G:p.Val487=	coding	Benign
19	30445002	C	T	C30445002T	ZNF536	NM_014717.3(ZNF536):c.1440C>T:p.Val480=	coding	Benign
19	30445647	C	T	C30445647T	ZNF536	NM_014717.3(ZNF536):c.2085C>T:p.Thr695=	coding	Benign
19	30534840	G	A	G30534840A	ZNF536	NM_014717.3(ZNF536):c.2171-7G>A	noncoding	Benign
19	30534938	G	A	G30534938A	ZNF536	NM_014717.3(ZNF536):c.2262G>A:p.Pro754=	coding	Benign
19	30548450	C	A	C30548450A	ZNF536	NM_014717.3(ZNF536):c.2831C>A:p.Pro944His	coding	Benign
19	30548583	G	A	G30548583A	ZNF536	NM_014717.3(ZNF536):c.2964G>A:p.Pro988=	coding	Benign
19	30548762	C	T	C30548762T	ZNF536	NM_014717.3(ZNF536):c.3143C>T:p.Ala1048Val	coding	Benign
19	31277733	G	A	G31277733A	TSHZ3	NM_020856.4(TSHZ3):c.2060C>T:p.Pro687Leu	coding	Benign
19	31278095	C	T	C31278095T	TSHZ3	NM_020856.4(TSHZ3):c.1698G>A:p.Ser566=	coding	Benign
19	31278890	T	C	T31278890C	TSHZ3	NM_020856.4(TSHZ3):c.903A>G:p.Gln301=	coding	Benign
19	32353736	C	A	C32353736A	ZNF507	NM_001136156.2(ZNF507):c.906C>A:p.Val302=	coding	Benign
19	32354126	G	A	G32354126A	ZNF507	NM_001136156.2(ZNF507):c.1296G>A:p.Gln432=	coding	Benign
19	32354942	A	G	A32354942G	ZNF507	NM_001136156.2(ZNF507):c.2112A>G:p.Glu704=	coding	Benign
19	32581307	G	A	G32581307A	PDCD5	NM_004708.4(PDCD5):c.46G>A:p.Glu16Lys	coding	Benign
19	32584943	G	A	G32584943A	PDCD5	NM_004708.4(PDCD5):c.105-7G>A	noncoding	Benign
19	32676293	G	A	G32676293A	RGS9BP	NM_207391.3(RGS9BP):c.30G>A:p.Leu10=	coding	Benign
19	32676302	C	G	C32676302G	RGS9BP	NM_207391.3(RGS9BP):c.39C>G:p.Leu13=	coding	Benign
19	32676549	G	T	G32676549T	RGS9BP	NM_207391.3(RGS9BP):c.286G>T:p.Ala96Ser	coding	Benign
19	32676931	C	T	C32676931T	RGS9BP	NM_207391.3(RGS9BP):c.668C>T:p.Ala223Val	coding	Benign
19	32676959	G	A	G32676959A	RGS9BP	NM_207391.3(RGS9BP):c.696G>A:p.Ala232=	coding	Benign
19	32676973	G	A	G32676973A	RGS9BP	NM_207391.3(RGS9BP):c.*2G>A	noncoding	Benign
19	32692678	A	G	A32692678G	NUDT19	NM_001105570.1(NUDT19):c.714+4A>G	noncoding	Benign
19	32830541	A	G	A32830541G	SLC7A9	NM_014270.5(SLC7A9):c.*79T>C	noncoding	Benign
19	32830640	G	A	G32830640A	SLC7A9	NM_014270.5(SLC7A9):c.1444C>T:p.Pro482Ser	coding	Benign
19	32830681	G	A	G32830681A	SLC7A9	NM_014270.5(SLC7A9):c.1403C>T:p.Pro468Leu	coding	Benign/Likely_benign
19	32842191	T	A	T32842191A	SLC7A9	NM_014270.5(SLC7A9):c.1201A>T:p.Lys401Ter	coding	Pathogenic
19	32842249	G	A	G32842249A	SLC7A9	NM_014270.5(SLC7A9):c.1143C>T:p.Ala381=	coding	Benign
19	32842273	C	T	C32842273T	SLC7A9	NM_014270.5(SLC7A9):c.1119G>A:p.Ser373=	coding	Benign/Likely_benign
19	32859857	G	A	G32859857A	SLC7A9	NM_014270.5(SLC7A9):c.857C>T:p.Ser286Phe	coding	Pathogenic
19	32859932	G	A	G32859932A	SLC7A9	NM_014270.5(SLC7A9):c.782C>T:p.Pro261Leu	coding	Pathogenic
19	32862135	G	A	G32862135A	SLC7A9	NM_014270.5(SLC7A9):c.687C>T:p.Leu229=	coding	Benign
19	32862151	G	A	G32862151A	SLC7A9	NM_014270.5(SLC7A9):c.671C>T:p.Ala224Val	coding	Pathogenic
19	32862155	G	T	G32862155T	SLC7A9	NM_014270.5(SLC7A9):c.667C>A:p.Leu223Met	coding	Benign
19	32862451	C	T	C32862451T	SLC7A9	NM_014270.5(SLC7A9):c.604+10G>A	noncoding	Benign
19	32862482	C	T	C32862482T	SLC7A9	NM_014270.5(SLC7A9):c.583G>A:p.Gly195Arg	coding	Pathogenic
19	32862521	C	T	C32862521T	SLC7A9	NM_014270.5(SLC7A9):c.544G>A:p.Ala182Thr	coding	Pathogenic/Likely_pathogenic
19	32862554	G	A	G32862554A	SLC7A9	NM_014270.5(SLC7A9):c.511C>T:p.Arg171Trp	coding	Pathogenic
19	32862557	C	T	C32862557T	SLC7A9	NM_014270.5(SLC7A9):c.508G>A:p.Val170Met	coding	Pathogenic
19	32862558	G	A	G32862558A	SLC7A9	NM_014270.5(SLC7A9):c.507C>T:p.Ser169=	coding	Benign
19	32864086	A	G	A32864086G	SLC7A9	NM_014270.5(SLC7A9):c.478+10T>C	noncoding	Benign
19	32864149	A	G	A32864149G	SLC7A9	NM_014270.5(SLC7A9):c.425T>C:p.Val142Ala	coding	Benign
19	32864163	A	G	A32864163G	SLC7A9	NM_014270.5(SLC7A9):c.411T>C:p.Cys137=	coding	Benign
19	32864175	G	A	G32864175A	SLC7A9	NM_014270.5(SLC7A9):c.399C>T:p.Ser133=	coding	Benign
19	32864206	G	A	G32864206A	SLC7A9	NM_014270.5(SLC7A9):c.368C>T:p.Thr123Met	coding	Pathogenic
19	32864261	C	T	C32864261T	SLC7A9	NM_014270.5(SLC7A9):c.313G>A:p.Gly105Arg	coding	Pathogenic
19	32864322	C	T	C32864322T	SLC7A9	NM_014270.5(SLC7A9):c.252G>A:p.Ala84=	coding	Benign
19	32864636	C	G	C32864636G	SLC7A9	NM_014270.5(SLC7A9):c.228G>C:p.Ala76=	coding	Benign/Likely_benign
19	32864713	A	G	A32864713G	SLC7A9	NM_014270.5(SLC7A9):c.151T>C:p.Ser51Pro	coding	Pathogenic
19	32864733	A	G	A32864733G	SLC7A9	NM_014270.5(SLC7A9):c.131T>C:p.Ile44Thr	coding	Pathogenic
19	32868573	G	A	G32868573A	SLC7A9	NM_014270.5(SLC7A9):c.-39C>T	noncoding	Benign
19	32869746	A	T	A32869746T	SLC7A9	NM_014270.5(SLC7A9):c.-172T>A	noncoding	Benign
19	32915421	C	T	C32915421T	CEP89	NM_032816.5(CEP89):c.1481G>A:p.Arg494His	coding	Benign
19	32915422	G	A	G32915422A	CEP89	NM_032816.5(CEP89):c.1480C>T:p.Arg494Cys	coding	Benign
19	32923486	T	C	T32923486C	CEP89	NM_032816.5(CEP89):c.1221A>G:p.Glu407=	coding	Benign
19	32973225	G	C	G32973225C	FAAP24	NM_152266.5(FAAP24):c.29G>C:p.Gly10Ala	coding	Benign
19	32974100	G	A	G32974100A	FAAP24	NM_152266.5(FAAP24):c.284G>A:p.Arg95Gln	coding	Benign
19	32974193	C	T	C32974193T	FAAP24	NM_152266.5(FAAP24):c.377C>T:p.Ser126Phe	coding	Benign
19	32976631	C	T	C32976631T	FAAP24	NM_152266.5(FAAP24):c.597C>T:p.Val199=	coding	Benign
19	32991915	G	A	G32991915A	RHPN2	NM_033103.5(RHPN2):c.1552C>T:p.Arg518Cys	coding	Benign
19	32996086	A	C	A32996086C	RHPN2	NM_033103.5(RHPN2):c.1360T>G:p.Tyr454Asp	coding	Benign
19	33002328	C	G	C33002328G	RHPN2	NM_033103.5(RHPN2):c.1024G>C:p.Ala342Pro	coding	Benign
19	33002929	C	T	C33002929T	RHPN2	NM_033103.5(RHPN2):c.832G>A:p.Val278Met	coding	Benign
19	33125171	C	T	C33125171T	GPATCH1	NM_018025.3(GPATCH1):c.2588C>T:p.Ala863Val	coding	Benign
19	33126693	G	A	G33126693A	GPATCH1	NM_018025.3(GPATCH1):c.2725G>A:p.Glu909Lys	coding	Benign
19	33205520	C	T	C33205520T	LRP3	NM_002333.4(LRP3):c.750C>T:p.Pro250=	coding	Benign
19	33207570	T	A	T33207570A	LRP3	NM_002333.4(LRP3):c.2308T>A:p.Cys770Ser	coding	Benign
19	33212888	G	A	G33212888A	SLC7A10	NM_019849.3(SLC7A10):c.471C>T:p.Pro157=	coding	Benign
19	33301374	C	T	C33301374T	CEBPA	NM_004364.4(CEBPA):c.1041G>A:p.Glu347=	coding	Benign
19	33301659	C	A	C33301659A	CEBPA	NM_004364.4(CEBPA):c.756G>T:p.Ala252=	coding	Benign
19	33301661	C	A	C33301661A	CEBPA	NM_004364.4(CEBPA):c.754G>T:p.Ala252Ser	coding	Benign
19	33301702	G	T	G33301702T	CEBPA	NM_004364.4(CEBPA):c.713C>A:p.Ala238Glu	coding	Benign
19	33301722	G	C	G33301722C	CEBPA	NM_004364.4(CEBPA):c.693C>G:p.Pro231=	coding	Benign
19	33301725	C	A	C33301725A	CEBPA	NM_004364.4(CEBPA):c.690G>T:p.Thr230=	coding	Benign
19	33301803	C	G	C33301803G	CEBPA	NM_004364.4(CEBPA):c.612G>C:p.Pro204=	coding	Benign
19	33301842	G	A	G33301842A	CEBPA	NM_004364.4(CEBPA):c.573C>T:p.His191=	coding	Benign
19	33301854	C	G	C33301854G	CEBPA	NM_004364.4(CEBPA):c.561G>C:p.Pro187=	coding	Benign
19	33302013	C	T	C33302013T	CEBPA	NM_004364.4(CEBPA):c.402G>A:p.Ala134=	coding	Benign
19	33302091	G	C	G33302091C	CEBPA	NM_004364.5(CEBPA):c.324C>G:p.Tyr108Ter	coding	Pathogenic
19	33302164	T	A	T33302164A	CEBPA	NM_001285829.1(CEBPA):c.-107A>T	coding	Pathogenic
19	33302247	G	T	G33302247T	CEBPA	NM_004364.5(CEBPA):c.168C>A:p.Cys56Ter	coding	Pathogenic
19	33302267	C	A	C33302267A	CEBPA	NM_001285829.1(CEBPA):c.-210G>T	coding	Pathogenic
19	33387133	A	G	A33387133G	PEPD	NM_000285.4(PEPD):c.*211T>C	noncoding	Benign
19	33387291	G	A	G33387291A	PEPD	NM_000285.4(PEPD):c.*53C>T	noncoding	Benign
19	33387292	A	G	A33387292G	PEPD	NM_000285.4(PEPD):c.*52T>C	noncoding	Benign
19	33387892	C	T	C33387892T	PEPD	NM_000285.4(PEPD):c.1342G>A:p.Gly448Arg	coding	Pathogenic
19	33387917	G	A	G33387917A	PEPD	NM_000285.4(PEPD):c.1317C>T:p.Val439=	coding	Benign
19	33387931	G	A	G33387931A	PEPD	NM_000285.4(PEPD):c.1303C>T:p.Leu435Phe	coding	Benign
19	33387940	C	T	C33387940T	PEPD	NM_000285.4(PEPD):c.1294G>A:p.Ala432Thr	coding	Benign/Likely_benign
19	33387978	T	C	T33387978C	PEPD	NM_000285.4(PEPD):c.1256A>G:p.Asp419Gly	coding	Benign/Likely_benign
19	33388000	C	T	C33388000T	PEPD	NM_000285.4(PEPD):c.1234G>A:p.Glu412Lys	coding	Pathogenic
19	33388071	C	T	C33388071T	PEPD	NM_000285.4(PEPD):c.1163G>A:p.Arg388His	coding	Benign/Likely_benign
19	33391316	G	A	G33391316A	PEPD	NM_000285.4(PEPD):c.1131C>T:p.His377=	coding	Benign
19	33391344	A	C	A33391344C	PEPD	NM_000285.4(PEPD):c.1103T>G:p.Leu368Arg	coding	Pathogenic
19	33391349	G	A	G33391349A	PEPD	NM_000285.4(PEPD):c.1098C>T:p.His366=	coding	Benign/Likely_benign
19	33391470	C	T	C33391470T	PEPD	NM_000285.4(PEPD):c.977G>A:p.Trp326Ter	coding	Pathogenic/Likely_pathogenic
19	33401825	A	G	A33401825G	PEPD	NM_000285.4(PEPD):c.863T>C:p.Ile288Thr	coding	Benign
19	33401862	C	T	C33401862T	PEPD	NM_000285.4(PEPD):c.826G>A:p.Asp276Asn	coding	Pathogenic
19	33411680	C	T	C33411680T	PEPD	NM_000285.4(PEPD):c.810G>A:p.Gly270=	coding	Benign
19	33411697	G	A	G33411697A	PEPD	NM_000285.4(PEPD):c.793C>T:p.Arg265Ter	coding	Pathogenic
19	33411746	A	G	A33411746G	PEPD	NM_000285.4(PEPD):c.744T>C:p.Gly248=	coding	Benign
19	33463006	A	G	A33463006G	PEPD	NM_000285.4(PEPD):c.660T>C:p.Tyr220=	coding	Benign
19	33463032	C	G	C33463032G	PEPD	NM_000285.4(PEPD):c.634G>C:p.Ala212Pro	coding	Pathogenic
19	33463050	C	T	C33463050T	PEPD	NM_000285.4(PEPD):c.625-9G>A	noncoding	Benign
19	33464006	G	A	G33464006A	PEPD	NM_000285.4(PEPD):c.605C>T:p.Ser202Phe	coding	Pathogenic
19	33464060	C	T	C33464060T	PEPD	NM_000285.4(PEPD):c.551G>A:p.Arg184Gln	coding	Pathogenic
19	33464063	C	T	C33464063T	PEPD	NM_000285.4(PEPD):c.549-1G>A	coding	Pathogenic
19	33478085	T	A	T33478085A	PEPD	NM_000285.4(PEPD):c.509A>T:p.Glu170Val	coding	Benign
19	33490043	C	T	C33490043T	PEPD	NM_000285.4(PEPD):c.456G>A:p.Thr152=	coding	Benign/Likely_benign
19	33490057	G	A	G33490057A	PEPD	NM_000285.4(PEPD):c.442C>T:p.Arg148Cys	coding	Benign
19	33689288	G	A	G33689288A	CHST8	NM_001127895.2(CHST8):c.27G>A:p.Arg9=	coding	Benign
19	34365280	C	T	C34365280T	GPI	NM_000175.5(GPI):c.14C>T:p.Thr5Ile	coding	Pathogenic
19	34365325	A	C	A34365325C	GPI	NM_000175.5(GPI):c.59A>C:p.His20Pro	coding	Pathogenic
19	34365408	G	A	G34365408A	GPI	NM_000175.5(GPI):c.122+20G>A	noncoding	Benign
19	34377575	G	A	G34377575A	GPI	NM_000175.5(GPI):c.475G>A:p.Gly159Ser	coding	Pathogenic
19	34377737	A	G	A34377737G	GPI	NM_000175.5(GPI):c.489A>G:p.Gly163=	coding	Benign
19	34377851	C	G	C34377851G	GPI	NM_000175.5(GPI):c.603C>G:p.Pro201=	coding	Benign
19	34378971	C	T	C34378971T	GPI	NM_000175.5(GPI):c.671C>T:p.Thr224Met	coding	Pathogenic
19	34381477	G	A	G34381477A	GPI	NM_000175.5(GPI):c.762G>A:p.Lys254=	coding	Benign
19	34393991	C	T	C34393991T	GPI	NM_000175.5(GPI):c.987C>T:p.Asn329=	coding	Benign
19	34394020	T	C	T34394020C	GPI	NM_000175.5(GPI):c.1016T>C:p.Leu339Pro	coding	Pathogenic
19	34394032	A	G	A34394032G	GPI	NM_000175.5(GPI):c.1028A>G:p.Gln343Arg	coding	Pathogenic
19	34394044	G	A	G34394044A	GPI	NM_000175.5(GPI):c.1040G>A:p.Arg347His	coding	Pathogenic
19	34396362	C	G	C34396362G	GPI	NM_000175.5(GPI):c.1124C>G:p.Thr375Arg	coding	Pathogenic
19	34399293	G	C	G34399293C	GPI	NM_000175.5(GPI):c.1356G>C:p.Ala452=	coding	Benign
19	34399933	T	C	T34399933C	GPI	NM_000175.5(GPI):c.1574T>C:p.Ile525Thr	coding	Pathogenic
19	34399974	G	A	G34399974A	GPI	NM_000175.5(GPI):c.1615G>A:p.Asp539Asn	coding	Pathogenic
19	34450293	T	A	T34450293A	UBA2	NM_005499.3(UBA2):c.800T>A:p.Leu267Ter	coding	Pathogenic
19	34685134	A	G	A34685134G	ZNF302	NM_001289187.2(ZNF302):c.1097A>G:p.Lys366Arg	coding	Benign
19	35030726	C	T	C35030726T	SCN1B	NM_001037.5(SCN1B):c.-95C>T	noncoding	Benign/Likely_benign
19	35030781	C	G	C35030781G	SCN1B	NM_001037.5(SCN1B):c.-40C>G	noncoding	Benign
19	35030794	G	C	G35030794C	SCN1B	NM_001037.5(SCN1B):c.-27G>C	noncoding	Benign
19	35030812	C	A	C35030812A	SCN1B	NM_001037.5(SCN1B):c.-9C>A	noncoding	Benign/Likely_benign
19	35030866	T	C	T35030866C	SCN1B	NM_001037.5(SCN1B):c.40+6T>C	noncoding	Benign
19	35030875	G	T	G35030875T	SCN1B	NM_001037.5(SCN1B):c.40+15G>T	noncoding	Benign
19	35032215	T	A	T35032215A	SCN1B	NM_001037.5(SCN1B):c.41-313T>A	noncoding	Benign
19	35032289	T	G	T35032289G	SCN1B	NM_001037.5(SCN1B):c.41-239T>G	noncoding	Benign
19	35032550	C	T	C35032550T	SCN1B	NM_001037.5(SCN1B):c.63C>T:p.Cys21=	coding	Benign/Likely_benign
19	35032701	G	A	G35032701A	SCN1B	NM_001037.5(SCN1B):c.207+7G>A	noncoding	Benign
19	35032707	C	T	C35032707T	SCN1B	NM_001037.5(SCN1B):c.207+13C>T	noncoding	Benign/Likely_benign
19	35032708	G	A	G35032708A	SCN1B	NM_001037.5(SCN1B):c.207+14G>A	noncoding	Benign
19	35033179	T	C	T35033179C	SCN1B	NM_001037.5(SCN1B):c.208-320T>C	noncoding	Benign
19	35033485	C	T	C35033485T	SCN1B	NM_001037.5(SCN1B):c.208-14C>T	noncoding	Benign
19	35033497	A	C	A35033497C	SCN1B	NM_001037.5(SCN1B):c.208-2A>C	noncoding	Pathogenic
19	35033545	G	A	G35033545A	SCN1B	NM_001037.5(SCN1B):c.254G>A:p.Arg85His	coding	Pathogenic
19	35033550	G	C	G35033550C	SCN1B	NM_001037.5(SCN1B):c.259G>C:p.Glu87Gln	coding	Pathogenic
19	35033558	C	T	C35033558T	SCN1B	NM_001037.5(SCN1B):c.267C>T:p.Arg89=	coding	Benign/Likely_benign
19	35033591	C	T	C35033591T	SCN1B	NM_001037.5(SCN1B):c.300C>T:p.Asp100=	coding	Benign/Likely_benign
19	35033599	A	T	A35033599T	SCN1B	NM_001037.5(SCN1B):c.308A>T:p.Asp103Val	coding	Pathogenic
19	35033607	A	T	A35033607T	SCN1B	NM_001037.5(SCN1B):c.316A>T:p.Ile106Phe	coding	Pathogenic
19	35033639	G	A	G35033639A	SCN1B	NM_001037.5(SCN1B):c.348G>A:p.Ser116=	coding	Benign
19	35033642	C	T	C35033642T	SCN1B	NM_001037.5(SCN1B):c.351C>T:p.Gly117=	coding	Benign
19	35033646	T	G	T35033646G	SCN1B	NM_001037.5(SCN1B):c.355T>G:p.Tyr119Asp	coding	Pathogenic
19	35033654	C	G	C35033654G	SCN1B	NM_001037.5(SCN1B):c.363C>G:p.Cys121Trp	coding	Pathogenic/Likely_pathogenic
19	35033664	C	T	C35033664T	SCN1B	NM_001037.5(SCN1B):c.373C>T:p.Arg125Cys	coding	Pathogenic
19	35033703	G	A	G35033703A	SCN1B	NM_001037.5(SCN1B):c.412G>A:p.Val138Ile	coding	Benign/Likely_benign
19	35033747	G	C	G35033747C	SCN1B	NM_001037.5(SCN1B):c.448+8G>C	coding	Benign/Likely_benign
19	35033768	C	T	C35033768T	SCN1B	NM_001037.5(SCN1B):c.448+29C>T	coding	Benign
19	35033828	G	A	G35033828A	SCN1B	NM_001037.5(SCN1B):c.448+89G>A	coding	Pathogenic
19	35033906	C	G	C35033906G	SCN1B	NM_001037.5(SCN1B):c.448+167C>G	coding	Benign
19	35033920	T	C	T35033920C	SCN1B	NM_001037.5(SCN1B):c.448+181T>C	coding	Benign
19	35033969	C	T	C35033969T	SCN1B	NM_001037.5(SCN1B):c.448+230C>T	coding	Benign/Likely_benign
19	35034035	C	A	C35034035A	SCN1B	NM_001037.5(SCN1B):c.448+296C>A	coding	Benign
19	35034040	G	A	G35034040A	SCN1B	NM_001037.5(SCN1B):c.448+301G>A	coding	Benign
19	35034040	G	C	G35034040C	SCN1B	NM_199037.3(SCN1B):c.749G>C:p.Arg250Thr	coding	Benign
19	35034053	C	A	C35034053A	SCN1B	NM_001037.5(SCN1B):c.448+314C>A	coding	Benign/Likely_benign
19	35034060	G	A	G35034060A	SCN1B	NM_001037.5(SCN1B):c.448+321G>A	coding	Benign/Likely_benign
19	35034349	T	C	T35034349C	SCN1B	NM_001037.5(SCN1B):c.448+610T>C	noncoding	Benign
19	35034418	A	C	A35034418C	SCN1B	NM_001037.5(SCN1B):c.448+679A>C	noncoding	Benign
19	35039116	G	A	G35039116A	SCN1B	NM_001037.5(SCN1B):c.449-1G>A	noncoding	Pathogenic
19	35039140	G	C	G35039140C	SCN1B	NM_001037.5(SCN1B):c.472G>C:p.Val158Leu	coding	Pathogenic
19	35039160	T	C	T35039160C	SCN1B	NM_001037.5(SCN1B):c.492T>C:p.Tyr164=	coding	Benign/Likely_benign
19	35039169	T	C	T35039169C	SCN1B	NM_001037.5(SCN1B):c.501T>C:p.Ile167=	coding	Benign
19	35039256	T	C	T35039256C	SCN1B	NM_001037.5(SCN1B):c.588T>C:p.Asn196=	coding	Benign/Likely_benign
19	35039274	G	A	G35039274A	SCN1B	NM_001037.5(SCN1B):c.590+16G>A	noncoding	Benign
19	35039621	C	A	C35039621A	SCN1B	NM_001037.5(SCN1B):c.591-14C>A	noncoding	Benign/Likely_benign
19	35039786	C	G	C35039786G	SCN1B	NM_001037.5(SCN1B):c.*6-11C>G	noncoding	Benign
19	35039833	T	C	T35039833C	SCN1B	NM_001037.5(SCN1B):c.*42T>C	noncoding	Benign
19	35039867	G	T	G35039867T	SCN1B	NM_001037.5(SCN1B):c.*76G>T	noncoding	Benign
19	35039877	A	C	A35039877C	SCN1B	NM_001037.5(SCN1B):c.*86A>C	noncoding	Benign
19	35039893	A	T	A35039893T	SCN1B	NM_001037.5(SCN1B):c.*102A>T	noncoding	Benign/Likely_benign
19	35039993	C	T	C35039993T	SCN1B	NM_001037.5(SCN1B):c.*202C>T	noncoding	Benign/Likely_benign
19	35040192	G	A	G35040192A	SCN1B	NM_001037.5(SCN1B):c.*401G>A	noncoding	Benign
19	35040238	A	G	A35040238G	SCN1B	NM_001037.5(SCN1B):c.*447A>G	noncoding	Benign/Likely_benign
19	35040245	C	A	C35040245A	SCN1B	NM_001037.5(SCN1B):c.*454C>A	noncoding	Benign/Likely_benign
19	35040318	T	C	T35040318C	SCN1B	NM_001037.5(SCN1B):c.*527T>C	noncoding	Benign/Likely_benign
19	35040325	C	T	C35040325T	SCN1B	NM_001037.5(SCN1B):c.*534C>T	noncoding	Benign/Likely_benign
19	35049296	G	A	G35049296A	HPN	NM_002151.2(HPN):c.23G>A:p.Arg8Gln	coding	Benign
19	35059800	C	G	C35059800G	HPN	NM_002151.2(HPN):c.288C>G:p.Leu96=	coding	Benign
19	35060720	C	T	C35060720T	HPN	NM_002151.2(HPN):c.714C>T:p.Val238=	coding	Benign
19	35125394	G	A	G35125394A	LGI4	NM_139284.3(LGI4):c.1413C>T:p.Ser471=	coding	Benign
19	35125506	A	T	A35125506T	LGI4	NM_139284.3(LGI4):c.1301T>A:p.Val434Asp	coding	Pathogenic
19	35126265	C	A	C35126265A	LGI4	NM_139284.3(LGI4):c.1299+5G>T	noncoding	Pathogenic
19	35126389	C	T	C35126389T	LGI4	NM_139284.3(LGI4):c.1180G>A:p.Gly394Ser	coding	Benign
19	35126416	G	A	G35126416A	LGI4	NM_139284.3(LGI4):c.1153C>T:p.Gln385Ter	coding	Pathogenic
19	35126706	C	T	C35126706T	LGI4	NM_139284.3(LGI4):c.863G>A:p.Trp288Ter	coding	Pathogenic
19	35126848	C	G	C35126848G	LGI4	NM_139284.3(LGI4):c.793+5G>C	noncoding	Pathogenic
19	35126853	C	T	C35126853T	LGI4	NM_139284.3(LGI4):c.793G>A:p.Ala265Thr	coding	Pathogenic
19	35126873	C	G	C35126873G	LGI4	NM_139284.3(LGI4):c.773G>C:p.Arg258Pro	coding	Pathogenic
19	35127016	C	T	C35127016T	LGI4	NM_139284.3(LGI4):c.630G>A:p.Glu210=	coding	Benign
19	35133713	G	T	G35133713T	LGI4	NM_139284.3(LGI4):c.294C>A:p.Gly98=	coding	Benign
19	35133728	G	A	G35133728A	LGI4	NM_139284.3(LGI4):c.279C>T:p.Asp93=	coding	Benign
19	35134679	A	G	A35134679G	LGI4	NM_139284.3(LGI4):c.2T>C:p.Met1Thr	coding	Pathogenic
19	35250355	C	T	C35250355T	LSR	NM_205834.3(LSR):c.294C>T:p.Tyr98=	coding	Benign
19	35282425	C	T	C35282425T	-	NC_000019.10:g.35282425C>T	noncoding	Pathogenic
19	35284953	C	T	C35284953T	HAMP	NM_021175.4(HAMP):c.166C>T:p.Arg56Ter	coding	Pathogenic
19	35284963	G	C	G35284963C	HAMP	NM_021175.4(HAMP):c.176G>C:p.Arg59Pro	coding	Pathogenic
19	35285003	C	A	C35285003A	HAMP	NM_021175.4(HAMP):c.216C>A:p.Cys72Ter	coding	Pathogenic
19	35295609	G	T	G35295609T	MAG	NM_002361.4(MAG):c.47-4G>T	noncoding	Benign
19	35295794	G	A	G35295794A	MAG	NM_002361.4(MAG):c.228G>A:p.Ser76=	coding	Benign
19	35295812	C	T	C35295812T	MAG	NM_002361.4(MAG):c.246C>T:p.His82=	coding	Benign
19	35295965	C	G	C35295965G	MAG	NM_002361.4(MAG):c.399C>G:p.Ser133Arg	coding	Pathogenic
19	35295975	A	G	A35295975G	MAG	NM_002361.4(MAG):c.409A>G:p.Ile137Val	coding	Benign
19	35300289	C	T	C35300289T	MAG	NM_002361.4(MAG):c.855C>T:p.Ala285=	coding	Benign
19	35300400	C	T	C35300400T	MAG	NM_002361.4(MAG):c.966C>T:p.Val322=	coding	Benign
19	35302581	G	A	G35302581A	MAG	NM_002361.4(MAG):c.1104G>A:p.Thr368=	coding	Benign
19	35302603	C	T	C35302603T	MAG	NM_002361.4(MAG):c.1126C>T:p.Gln376Ter	coding	Pathogenic
19	35302617	G	A	G35302617A	MAG	NM_002361.4(MAG):c.1140G>A:p.Pro380=	coding	Benign
19	35309930	T	G	T35309930G	MAG	NM_002361.4(MAG):c.1288T>G:p.Cys430Gly	coding	Pathogenic
19	35311948	G	A	G35311948A	MAG	NM_002361.4(MAG):c.1647G>A:p.Ser549=	coding	Benign
19	35311958	A	C	A35311958C	MAG	NM_002361.4(MAG):c.1657A>C:p.Asn553His	coding	Benign
19	35313372	C	T	C35313372T	MAG	NM_002361.4(MAG):c.1799C>T:p.Ser600Leu	coding	Benign
19	35337831	C	T	C35337831T	CD22	NM_001771.4(CD22):c.795C>T:p.Cys265=	coding	Benign
19	35338353	G	A	G35338353A	CD22	NM_001771.4(CD22):c.1171G>A:p.Ala391Thr	coding	Benign
19	35341486	G	A	G35341486A	CD22	NM_001771.4(CD22):c.1651G>A:p.Gly551Arg	coding	Benign
19	35344836	G	A	G35344836A	CD22	NM_001771.4(CD22):c.2043G>A:p.Pro681=	coding	Benign
19	35359024	G	A	G35359024A	FFAR3	NM_005304.5(FFAR3):c.134G>A:p.Arg45His	coding	Benign
19	35359809	A	G	A35359809G	FFAR3	NM_005304.5(FFAR3):c.919A>G:p.Met307Val	coding	Benign
19	35449819	G	T	G35449819T	FFAR2	NM_001370087.1(FFAR2):c.105G>T:p.Arg35=	coding	Benign
19	35449850	A	G	A35449850G	FFAR2	NM_001370087.1(FFAR2):c.136A>G:p.Ile46Val	coding	Benign
19	35523539	A	G	A35523539G	SBSN	NM_001166034.2(SBSN):c.1750-6T>C	noncoding	Benign
19	35542550	A	G	A35542550G	GAPDHS	NM_014364.5(GAPDHS):c.601A>G:p.Met201Val	coding	Benign
19	35543456	G	A	G35543456A	GAPDHS	NM_014364.5(GAPDHS):c.858G>A:p.Ala286=	coding	Benign
19	35554973	G	A	G35554973A	ATP4A	NM_000704.3(ATP4A):c.2430C>T:p.Pro810=	coding	Benign
19	35555527	G	A	G35555527A	ATP4A	NM_000704.3(ATP4A):c.2070C>T:p.Val690=	coding	Benign
19	35555696	G	A	G35555696A	ATP4A	NM_000704.3(ATP4A):c.1986C>T:p.Pro662=	coding	Benign
19	35556925	G	A	G35556925A	ATP4A	NM_000704.3(ATP4A):c.1857C>T:p.Thr619=	coding	Benign
19	35557030	T	C	T35557030C	ATP4A	NM_000704.3(ATP4A):c.1752A>G:p.Val584=	coding	Benign
19	35560431	G	T	G35560431T	ATP4A	NM_000704.3(ATP4A):c.719C>A:p.Pro240His	coding	Benign
19	35560831	G	A	G35560831A	ATP4A	NM_000704.3(ATP4A):c.522C>T:p.Asn174=	coding	Benign
19	35562555	G	A	G35562555A	ATP4A	NM_000704.3(ATP4A):c.300C>T:p.Tyr100=	coding	Benign
19	35563266	G	A	G35563266A	ATP4A	NM_000704.3(ATP4A):c.159C>T:p.Asn53=	coding	Benign
19	35651285	C	T	C35651285T	COX6B1	NM_001863.5(COX6B1):c.42C>T:p.Thr14=	coding	Benign
19	35651301	C	T	C35651301T	COX6B1	NM_001863.5(COX6B1):c.58C>T:p.Arg20Cys	coding	Pathogenic
19	35651302	G	A	G35651302A	COX6B1	NM_001863.5(COX6B1):c.59G>A:p.Arg20His	coding	Pathogenic
19	35651394	G	A	G35651394A	COX6B1	NM_001863.5(COX6B1):c.106+45G>A	noncoding	Benign
19	35719503	C	T	C35719503T	KMT2B	NM_014727.3(KMT2B):c.398C>T:p.Ala133Val	coding	Benign
19	35719529	C	T	C35719529T	KMT2B	NM_014727.3(KMT2B):c.424C>T:p.Arg142Ter	coding	Pathogenic
19	35720443	G	A	G35720443A	KMT2B	NM_014727.3(KMT2B):c.1096G>A:p.Glu366Lys	coding	Benign
19	35720980	C	T	C35720980T	KMT2B	NM_014727.2(KMT2B):c.1633C>T:p.Arg545Ter	coding	Pathogenic/Likely_pathogenic
19	35721037	C	T	C35721037T	KMT2B	NM_014727.2(KMT2B):c.1690C>T:p.Arg564Ter	coding	Pathogenic/Likely_pathogenic
19	35721772	C	T	C35721772T	KMT2B	NM_014727.2(KMT2B):c.2425C>T:p.Gln809Ter	coding	Pathogenic
19	35723107	G	C	G35723107C	KMT2B	NM_014727.3(KMT2B):c.2835G>C:p.Leu945=	coding	Benign
19	35723134	C	T	C35723134T	KMT2B	NM_014727.3(KMT2B):c.2862C>T:p.Pro954=	coding	Benign
19	35723272	T	C	T35723272C	KMT2B	NM_014727.3(KMT2B):c.3000T>C:p.Cys1000=	coding	Benign
19	35723949	G	A	G35723949A	KMT2B	NM_014727.3(KMT2B):c.3276G>A:p.Ser1092=	coding	Benign
19	35724681	C	G	C35724681G	KMT2B	NM_014727.3(KMT2B):c.3379C>G:p.Pro1127Ala	coding	Benign
19	35724686	C	T	C35724686T	KMT2B	NM_014727.3(KMT2B):c.3384C>T:p.Thr1128=	coding	Benign
19	35724702	C	T	C35724702T	KMT2B	NM_014727.2(KMT2B):c.3400C>T:p.Gln1134Ter	coding	Pathogenic
19	35725746	C	T	C35725746T	KMT2B	NM_014727.3(KMT2B):c.3813C>T:p.Cys1271=	coding	Benign
19	35725800	G	A	G35725800A	KMT2B	NM_014727.3(KMT2B):c.3867G>A:p.Thr1289=	coding	Benign/Likely_benign
19	35725818	G	A	G35725818A	KMT2B	NM_014727.2(KMT2B):c.3885G>A:p.Trp1295Ter	coding	Pathogenic
19	35727524	C	T	C35727524T	KMT2B	NM_014727.2(KMT2B):c.4204C>T:p.Arg1402Ter	coding	Pathogenic
19	35727760	C	T	C35727760T	KMT2B	NM_014727.3(KMT2B):c.4365C>T:p.Arg1455=	coding	Benign
19	35727977	C	T	C35727977T	KMT2B	NM_014727.3(KMT2B):c.4489C>T:p.Leu1497=	coding	Benign
19	35728149	C	T	C35728149T	KMT2B	NM_014727.3(KMT2B):c.4549C>T:p.Arg1517Ter	coding	Pathogenic
19	35728824	C	T	C35728824T	KMT2B	NM_014727.2(KMT2B):c.4622C>T:p.Ala1541Val	coding	Pathogenic
19	35729049	C	T	C35729049T	KMT2B	NM_014727.3(KMT2B):c.4752C>T:p.Cys1584=	coding	Benign
19	35729963	G	A	G35729963A	KMT2B	NM_014727.3(KMT2B):c.4918-4G>A	noncoding	Benign
19	35729972	C	T	C35729972T	KMT2B	NM_014727.3(KMT2B):c.4923C>T:p.Cys1641=	coding	Benign
19	35730332	C	A	C35730332A	KMT2B	NM_014727.3(KMT2B):c.5077-10C>A	noncoding	Benign
19	35730378	C	T	C35730378T	KMT2B	NM_014727.2(KMT2B):c.5113C>T:p.Arg1705Ter	coding	Pathogenic
19	35730452	C	T	C35730452T	KMT2B	NM_014727.3(KMT2B):c.5187C>T:p.Asn1729=	coding	Benign
19	35730624	G	A	G35730624A	KMT2B	NM_014727.3(KMT2B):c.5276+8G>A	noncoding	Benign
19	35730766	G	A	G35730766A	KMT2B	NM_014727.2(KMT2B):c.5336G>A:p.Arg1779Gln	coding	Pathogenic
19	35732024	G	A	G35732024A	KMT2B	NM_014727.3(KMT2B):c.5554G>A:p.Ala1852Thr	coding	Benign
19	35732061	G	A	G35732061A	KMT2B	NM_014727.3(KMT2B):c.5591G>A:p.Arg1864Gln	coding	Benign
19	35732144	C	T	C35732144T	KMT2B	NM_014727.3(KMT2B):c.5665+9C>T	noncoding	Benign
19	35732600	C	T	C35732600T	KMT2B	NM_014727.3(KMT2B):c.6051C>T:p.His2017=	coding	Benign
19	35732798	G	A	G35732798A	KMT2B	NM_014727.3(KMT2B):c.6249G>A:p.Thr2083=	coding	Benign/Likely_benign
19	35732870	G	A	G35732870A	KMT2B	NM_014727.3(KMT2B):c.6321G>A:p.Glu2107=	coding	Benign
19	35732882	G	A	G35732882A	KMT2B	NM_014727.3(KMT2B):c.6333G>A:p.Ser2111=	coding	Benign
19	35733260	C	A	C35733260A	KMT2B	NM_014727.2(KMT2B):c.6711C>A:p.Gly2237=	coding	Benign
19	35733761	A	G	A35733761G	KMT2B	NM_014727.2(KMT2B):c.7050-2A>G	noncoding	Pathogenic
19	35736715	G	A	G35736715A	KMT2B	NM_014727.3(KMT2B):c.7185G>A:p.Glu2395=	coding	Benign
19	35736834	G	T	G35736834T	KMT2B	NM_014727.3(KMT2B):c.7297+7G>T	noncoding	Benign
19	35736931	C	T	C35736931T	KMT2B	NM_014727.3(KMT2B):c.7317C>T:p.Ile2439=	coding	Benign
19	35738078	C	T	C35738078T	KMT2B	NM_014727.2(KMT2B):c.7759C>T:p.Arg2587Ter	coding	Pathogenic
19	35745965	T	A	T35745965A	PSENEN	NM_172341.4(PSENEN):c.35T>A:p.Leu12Ter	coding	Pathogenic
19	35746008	G	C	G35746008C	PSENEN	NM_172341.4(PSENEN):c.61+17G>C	noncoding	Benign
19	35746418	G	C	G35746418C	PSENEN	NM_172341.4(PSENEN):c.62-1G>C	noncoding	Pathogenic
19	35746706	A	G	A35746706G	PSENEN	NM_172341.4(PSENEN):c.167-2A>G	noncoding	Pathogenic
19	35746735	T	G	T35746735G	PSENEN	NM_172341.4(PSENEN):c.194T>G:p.Leu65Arg	coding	Pathogenic
19	35778541	C	T	C35778541T	ARHGAP33	NM_052948.4(ARHGAP33):c.348C>T:p.Asp116=	coding	Benign
19	35784256	G	A	G35784256A	ARHGAP33	NM_052948.4(ARHGAP33):c.1506G>A:p.Leu502=	coding	Benign
19	35785017	G	A	G35785017A	ARHGAP33	NM_052948.4(ARHGAP33):c.1632G>A:p.Thr544=	coding	Benign
19	35806521	G	T	G35806521T	PRODH2	NM_021232.1(PRODH2):c.1138C>A:p.Arg380=	coding	Benign
19	35812034	C	T	C35812034T	PRODH2	NM_021232.1(PRODH2):c.753G>A:p.Ser251=	coding	Benign
19	35825395	T	G	T35825395G	NPHS1	NM_004646.3(NPHS1):c.*1119A>C	noncoding	Benign
19	35826368	A	G	A35826368G	NPHS1	NM_004646.4(NPHS1):c.*146T>C	noncoding	Benign
19	35826538	G	A	G35826538A	NPHS1	NM_004646.3(NPHS1):c.3702C>T:p.Phe1234=	coding	Benign
19	35826654	C	A	C35826654A	NPHS1	NM_004646.3(NPHS1):c.3595-9G>T	noncoding	Benign/Likely_benign
19	35830889	G	T	G35830889T	NPHS1	NM_004646.3(NPHS1):c.3549C>A:p.Tyr1183Ter	coding	Pathogenic/Likely_pathogenic
19	35830963	T	A	T35830963A	NPHS1	NM_004646.3(NPHS1):c.3482-7A>T	noncoding	Benign/Likely_benign
19	35831052	C	A	C35831052A	NPHS1	NM_004646.4(NPHS1):c.3481+1G>T	noncoding	Pathogenic
19	35831056	G	A	G35831056A	NPHS1	NM_004646.3(NPHS1):c.3478C>T:p.Arg1160Ter	coding	Pathogenic
19	35831092	G	A	G35831092A	NPHS1	NM_004646.3(NPHS1):c.3442C>T:p.Gln1148Ter	coding	Pathogenic/Likely_pathogenic
19	35831116	G	T	G35831116T	NPHS1	NM_004646.3(NPHS1):c.3418C>A:p.Arg1140Ser	coding	Benign/Likely_benign
19	35831340	C	A	C35831340A	NPHS1	NM_004646.4(NPHS1):c.3343G>T:p.Glu1115Ter	coding	Pathogenic
19	35831358	G	A	G35831358A	NPHS1	NM_004646.3(NPHS1):c.3325C>T:p.Arg1109Ter	coding	Pathogenic
19	35831362	C	T	C35831362T	NPHS1	NM_004646.3(NPHS1):c.3321G>A:p.Glu1107=	coding	Benign
19	35831368	C	T	C35831368T	NPHS1	NM_004646.3(NPHS1):c.3315G>A:p.Ser1105=	coding	Benign
19	35831699	T	C	T35831699C	NPHS1	NM_004646.3(NPHS1):c.3230A>G:p.Asn1077Ser	coding	Benign
19	35839319	G	C	G35839319C	NPHS1	NM_004646.3(NPHS1):c.3027C>G:p.Tyr1009Ter	coding	Pathogenic
19	35839375	C	G	C35839375G	NPHS1	NM_004646.3(NPHS1):c.2971G>C:p.Val991Leu	coding	Benign/Likely_benign
19	35839418	C	A	C35839418A	NPHS1	NM_004646.3(NPHS1):c.2928G>T:p.Arg976Ser	coding	Pathogenic/Likely_pathogenic
19	35842122	A	C	A35842122C	NPHS1	NM_004646.3(NPHS1):c.2663+2T>G	noncoding	Pathogenic/Likely_pathogenic
19	35842406	G	A	G35842406A	NPHS1	NM_004646.3(NPHS1):c.2479C>T:p.Arg827Ter	coding	Pathogenic
19	35842468	G	T	G35842468T	NPHS1	NM_004646.3(NPHS1):c.2417C>A:p.Ala806Asp	coding	Pathogenic/Likely_pathogenic
19	35843482	C	T	C35843482T	NPHS1	NM_004646.4(NPHS1):c.2324G>A:p.Trp775Ter	coding	Pathogenic
19	35843517	G	A	G35843517A	NPHS1	NM_004646.3(NPHS1):c.2289C>T:p.Val763=	coding	Benign
19	35843583	G	A	G35843583A	NPHS1	NM_004646.3(NPHS1):c.2223C>T:p.Thr741=	coding	Benign
19	35844109	C	T	C35844109T	NPHS1	NM_004646.3(NPHS1):c.2206G>A:p.Val736Met	coding	Pathogenic
19	35844249	G	A	G35844249A	NPHS1	NM_004646.3(NPHS1):c.2072-6C>T	noncoding	Benign
19	35845356	C	T	C35845356T	NPHS1	NM_004646.3(NPHS1):c.1930+12G>A	noncoding	Benign/Likely_benign
19	35845370	A	G	A35845370G	NPHS1	NM_004646.3(NPHS1):c.1928T>C:p.Leu643Pro	coding	Pathogenic/Likely_pathogenic
19	35845430	C	A	C35845430A	NPHS1	NM_004646.3(NPHS1):c.1868G>T:p.Cys623Phe	coding	Pathogenic/Likely_pathogenic
19	35845670	T	C	T35845670C	NPHS1	NM_004646.3(NPHS1):c.1756A>G:p.Arg586Gly	coding	Pathogenic
19	35845711	C	T	C35845711T	NPHS1	NM_004646.3(NPHS1):c.1715G>A:p.Ser572Asn	coding	Pathogenic/Likely_pathogenic
19	35845725	G	T	G35845725T	NPHS1	NM_004646.3(NPHS1):c.1701C>A:p.Cys567Ter	coding	Pathogenic/Likely_pathogenic
19	35846068	G	A	G35846068A	NPHS1	NM_004646.4(NPHS1):c.1567C>T:p.Gln523Ter	coding	Pathogenic
19	35848102	C	T	C35848102T	NPHS1	NM_004646.3(NPHS1):c.1379G>A:p.Arg460Gln	coding	Pathogenic/Likely_pathogenic
19	35848161	G	A	G35848161A	NPHS1	NM_004646.3(NPHS1):c.1320C>T:p.Pro440=	coding	Benign
19	35848335	G	A	G35848335A	NPHS1	NM_004646.3(NPHS1):c.1233C>T:p.Asn411=	coding	Benign
19	35848345	C	T	C35848345T	NPHS1	NM_004646.3(NPHS1):c.1223G>A:p.Arg408Gln	coding	Benign/Likely_benign
19	35848393	A	G	A35848393G	NPHS1	NM_004646.3(NPHS1):c.1175T>C:p.Leu392Pro	coding	Benign/Likely_benign
19	35848628	C	T	C35848628T	NPHS1	NM_004646.3(NPHS1):c.1170+9G>A	noncoding	Benign
19	35848651	C	A	C35848651A	NPHS1	NM_004646.4(NPHS1):c.1156G>T:p.Glu386Ter	coding	Pathogenic
19	35848708	G	A	G35848708A	NPHS1	NM_004646.3(NPHS1):c.1099C>T:p.Arg367Cys	coding	Pathogenic
19	35848711	T	G	T35848711G	NPHS1	NM_004646.3(NPHS1):c.1096A>C:p.Ser366Arg	coding	Pathogenic
19	35848759	A	G	A35848759G	NPHS1	NM_004646.3(NPHS1):c.1048T>C:p.Ser350Pro	coding	Pathogenic/Likely_pathogenic
19	35849060	C	T	C35849060T	NPHS1	NM_004646.3(NPHS1):c.928G>A:p.Asp310Asn	coding	Pathogenic/Likely_pathogenic
19	35849107	G	A	G35849107A	NPHS1	NM_004646.3(NPHS1):c.881C>T:p.Thr294Ile	coding	Benign/Likely_benign
19	35849230	C	T	C35849230T	NPHS1	NM_004646.3(NPHS1):c.840+6G>A	noncoding	Benign/Likely_benign
19	35849268	C	A	C35849268A	NPHS1	NM_004646.3(NPHS1):c.808G>T:p.Gly270Cys	coding	Pathogenic/Likely_pathogenic
19	35849273	C	T	C35849273T	NPHS1	NM_004646.3(NPHS1):c.803G>A:p.Arg268Gln	coding	Benign
19	35849274	G	A	G35849274A	NPHS1	NM_004646.3(NPHS1):c.802C>T:p.Arg268Ter	coding	Pathogenic
19	35849283	A	G	A35849283G	NPHS1	NM_004646.3(NPHS1):c.793T>C:p.Cys265Arg	coding	Pathogenic
19	35849285	G	C	G35849285C	NPHS1	NM_004646.3(NPHS1):c.791C>G:p.Pro264Arg	coding	Benign/Likely_benign
19	35849336	C	T	C35849336T	NPHS1	NM_004646.3(NPHS1):c.740G>A:p.Trp247Ter	coding	Pathogenic
19	35849340	C	A	C35849340A	NPHS1	NM_004646.3(NPHS1):c.736G>T:p.Glu246Ter	coding	Pathogenic
19	35849563	G	A	G35849563A	NPHS1	NM_004646.3(NPHS1):c.699C>T:p.Thr233=	coding	Benign
19	35849655	T	G	T35849655G	NPHS1	NM_004646.3(NPHS1):c.609-2A>C	noncoding	Pathogenic/Likely_pathogenic
19	35850398	G	A	G35850398A	NPHS1	NM_004646.3(NPHS1):c.574C>T:p.Gln192Ter	coding	Pathogenic
19	35850407	C	A	C35850407A	NPHS1	NM_004646.3(NPHS1):c.565G>T:p.Glu189Ter	coding	Pathogenic/Likely_pathogenic
19	35850440	G	A	G35850440A	NPHS1	NM_004646.3(NPHS1):c.532C>T:p.Gln178Ter	coding	Pathogenic
19	35851019	G	C	G35851019C	NPHS1	NM_004646.3(NPHS1):c.468C>G:p.Tyr156Ter	coding	Pathogenic
19	35851263	C	G	C35851263G	NPHS1	NM_004646.3(NPHS1):c.396G>C:p.Leu132=	coding	Benign
19	35851310	C	T	C35851310T	NPHS1	NM_004646.3(NPHS1):c.349G>A:p.Glu117Lys	coding	Benign
19	35851365	G	A	G35851365A	NPHS1	NM_004646.3(NPHS1):c.294C>T:p.Ile98=	coding	Benign
19	35851691	G	T	G35851691T	NPHS1	NM_004646.3(NPHS1):c.59-19C>A	noncoding	Benign
19	35851918	G	C	G35851918C	NPHS1	NM_004646.3(NPHS1):c.-81C>G	noncoding	Benign
19	35859572	G	A	G35859572A	KIRREL2	NM_199180.4(KIRREL2):c.614G>A:p.Arg205Gln	coding	Benign
19	35872580	C	T	C35872580T	APLP1	NM_001024807.3(APLP1):c.948C>T:p.Asp316=	coding	Benign
19	35904429	A	G	A35904429G	TYROBP	NM_003332.4(TYROBP):c.*140T>C	noncoding	Benign
19	35904486	G	A	G35904486A	TYROBP	NM_003332.4(TYROBP):c.*83C>T	noncoding	Benign
19	35904544	T	G	T35904544G	TYROBP	NM_003332.4(TYROBP):c.*25A>C	noncoding	Benign
19	35907512	C	A	C35907512A	TYROBP	NM_003332.4(TYROBP):c.163G>T:p.Val55Leu	coding	Benign
19	35907552	G	C	G35907552C	TYROBP	NM_003332.4(TYROBP):c.123C>G:p.Gly41=	coding	Benign
19	35907720	C	G	C35907720G	TYROBP	NM_003332.3(TYROBP):c.94+10G>C	noncoding	Benign
19	35907756	C	T	C35907756T	TYROBP	NM_003332.3(TYROBP):c.68G>A:p.Arg23His	coding	Benign
19	35908227	A	G	A35908227G	TYROBP	NM_003332.4(TYROBP):c.2T>C:p.Met1Thr	coding	Pathogenic
19	35995438	G	C	G35995438C	SDHAF1	NM_001042631.2(SDHAF1):c.164G>C:p.Arg55Pro	coding	Pathogenic
19	35995443	G	C	G35995443C	SDHAF1	NM_001042631.2(SDHAF1):c.169G>C:p.Gly57Arg	coding	Pathogenic
19	35995543	G	C	G35995543C	SDHAF1	NM_001042631.2(SDHAF1):c.269=:p.Ser90=	coding	Benign
19	35995607	C	G	C35995607G	SDHAF1	NM_001042631.2(SDHAF1):c.333C>G:p.Arg111=	coding	Benign/Likely_benign
19	35996244	A	G	A35996244G	SDHAF1	NM_001042631.2(SDHAF1):c.*622A>G	noncoding	Benign
19	36003332	A	G	A36003332G	SYNE4	NM_001039876.3(SYNE4):c.*5T>C	noncoding	Benign
19	36003427	G	A	G36003427A	SYNE4	NM_001039876.3(SYNE4):c.1125C>T:p.Pro375=	coding	Benign
19	36006456	C	G	C36006456G	SYNE4	NM_001039876.3(SYNE4):c.834G>C:p.Gln278His	coding	Benign
19	36006471	A	G	A36006471G	SYNE4	NM_001039876.3(SYNE4):c.819T>C:p.Cys273=	coding	Benign
19	36006485	G	A	G36006485A	SYNE4	NM_001039876.3(SYNE4):c.805C>T:p.Leu269=	coding	Benign/Likely_benign
19	36006491	G	A	G36006491A	SYNE4	NM_001039876.3(SYNE4):c.799C>T:p.Arg267Trp	coding	Benign
19	36006501	T	C	T36006501C	SYNE4	NM_001039876.3(SYNE4):c.789A>G:p.Gln263=	coding	Benign
19	36006825	C	T	C36006825T	SYNE4	NM_001039876.3(SYNE4):c.543G>A:p.Arg181=	coding	Benign/Likely_benign
19	36006845	C	G	C36006845G	SYNE4	NM_001039876.3(SYNE4):c.523G>C:p.Ala175Pro	coding	Benign
19	36007157	C	T	C36007157T	SYNE4	NM_001039876.3(SYNE4):c.391G>A:p.Ala131Thr	coding	Benign
19	36007185	C	T	C36007185T	SYNE4	NM_001039876.3(SYNE4):c.363G>A:p.Gln121=	coding	Benign
19	36008271	C	T	C36008271T	SYNE4	NM_001039876.3(SYNE4):c.225G>A:p.Pro75=	coding	Benign
19	36008586	G	A	G36008586A	SYNE4	NM_001039876.3(SYNE4):c.96C>T:p.Thr32=	coding	Benign
19	36008675	G	A	G36008675A	SYNE4	NM_001039876.3(SYNE4):c.7C>T:p.Leu3=	coding	Benign/Likely_benign
19	36055080	G	C	G36055080C	WDR62	NM_001083961.2(WDR62):c.109G>C:p.Ala37Pro	coding	Benign
19	36055113	C	T	C36055113T	WDR62	NM_001083961.2(WDR62):c.142C>T:p.Leu48Phe	coding	Benign/Likely_benign
19	36055325	C	G	C36055325G	WDR62	NM_001083961.2(WDR62):c.177+177C>G	noncoding	Benign
19	36058782	G	A	G36058782A	WDR62	NM_001083961.2(WDR62):c.180G>A:p.Val60=	coding	Benign
19	36058788	C	G	C36058788G	WDR62	NM_001083961.2(WDR62):c.186C>G:p.Leu62=	coding	Benign
19	36058788	C	T	C36058788T	WDR62	NM_001083961.2(WDR62):c.186C>T:p.Leu62=	coding	Benign
19	36058795	G	A	G36058795A	WDR62	NM_001083961.2(WDR62):c.193G>A:p.Val65Met	coding	Pathogenic
19	36060031	G	A	G36060031A	WDR62	NM_001083961.2(WDR62):c.332+1G>A	coding	Pathogenic
19	36066016	G	T	G36066016T	WDR62	NM_001083961.2(WDR62):c.390+1G>T	coding	Pathogenic
19	36066971	G	A	G36066971A	WDR62	NM_001083961.2(WDR62):c.562-335G>A	noncoding	Benign
19	36066982	G	C	G36066982C	WDR62	NM_001083961.2(WDR62):c.562-324G>C	noncoding	Benign
19	36067211	T	C	T36067211C	WDR62	NM_001083961.2(WDR62):c.562-95T>C	noncoding	Benign
19	36067293	C	T	C36067293T	WDR62	NM_001083961.2(WDR62):c.562-13C>T	noncoding	Benign
19	36067415	G	C	G36067415C	WDR62	NM_001083961.2(WDR62):c.671G>C:p.Trp224Ser	coding	Pathogenic
19	36067810	C	T	C36067810T	WDR62	NM_001083961.2(WDR62):c.700-18C>T	noncoding	Benign
19	36067872	C	T	C36067872T	WDR62	NM_001083961.2(WDR62):c.744C>T:p.Gly248=	coding	Benign/Likely_benign
19	36067994	A	G	A36067994G	WDR62	NM_001083961.2(WDR62):c.866A>G:p.Lys289Arg	coding	Benign/Likely_benign
19	36071390	G	A	G36071390A	WDR62	NM_001083961.2(WDR62):c.883-166G>A	noncoding	Benign
19	36073455	G	A	G36073455A	WDR62	NM_001083961.2(WDR62):c.1157G>A:p.Trp386Ter	coding	Pathogenic
19	36073523	A	G	A36073523G	WDR62	NM_001083961.2(WDR62):c.1225A>G:p.Asn409Asp	coding	Benign/Likely_benign
19	36073542	C	A	C36073542A	WDR62	NM_001083961.2(WDR62):c.1233+11C>A	noncoding	Benign
19	36073544	C	T	C36073544T	WDR62	NM_001083961.2(WDR62):c.1233+13C>T	noncoding	Benign
19	36073751	C	T	C36073751T	WDR62	NM_001083961.2(WDR62):c.1233+220C>T	noncoding	Benign
19	36081512	G	A	G36081512A	WDR62	NM_001083961.2(WDR62):c.1313G>A:p.Arg438His	coding	Pathogenic
19	36081514	T	G	T36081514G	WDR62	NM_001083961.2(WDR62):c.1315T>G:p.Phe439Val	coding	Benign
19	36081662	T	C	T36081662C	WDR62	NM_001083961.2(WDR62):c.1371+92T>C	noncoding	Benign
19	36083099	C	T	C36083099T	WDR62	NM_001083961.2(WDR62):c.1408C>T:p.Gln470Ter	coding	Pathogenic
19	36083161	C	T	C36083161T	WDR62	NM_001083961.2(WDR62):c.1470C>T:p.Asp490=	coding	Benign
19	36083222	G	A	G36083222A	WDR62	NM_001083961.2(WDR62):c.1531G>A:p.Asp511Asn	coding	Pathogenic
19	36083459	A	G	A36083459G	WDR62	NM_001083961.2(WDR62):c.1550+218A>G	noncoding	Benign
19	36084678	G	T	G36084678T	WDR62	NM_001083961.2(WDR62):c.1576G>T:p.Glu526Ter	coding	Pathogenic
19	36084743	G	A	G36084743A	WDR62	NM_001083961.2(WDR62):c.1641G>A:p.Thr547=	coding	Benign
19	36084752	C	T	C36084752T	WDR62	NM_001083961.2(WDR62):c.1642+8C>T	noncoding	Benign
19	36086648	G	A	G36086648A	WDR62	NM_001083961.2(WDR62):c.1643-39G>A	noncoding	Benign
19	36086677	C	T	C36086677T	WDR62	NM_001083961.2(WDR62):c.1643-10C>T	noncoding	Benign
19	36086840	G	A	G36086840A	WDR62	NM_001083961.2(WDR62):c.1768+28G>A	noncoding	Benign
19	36087032	G	A	G36087032A	WDR62	NM_001083961.2(WDR62):c.1768+220G>A	noncoding	Benign
19	36089289	C	A	C36089289A	WDR62	NM_001083961.2(WDR62):c.1941C>A:p.Cys647Ter	coding	Pathogenic
19	36090361	G	C	G36090361C	WDR62	NM_001083961.2(WDR62):c.1959-84G>C	noncoding	Benign
19	36090502	C	T	C36090502T	WDR62	NM_001083961.2(WDR62):c.2016C>T:p.Asp672=	coding	Benign/Likely_benign
19	36090516	T	C	T36090516C	WDR62	NM_001083961.2(WDR62):c.2030T>C:p.Leu677Pro	coding	Pathogenic
19	36091075	C	T	C36091075T	WDR62	NM_001083961.2(WDR62):c.2035-125C>T	noncoding	Benign
19	36091085	T	C	T36091085C	WDR62	NM_001083961.2(WDR62):c.2035-115T>C	noncoding	Benign
19	36091277	G	C	G36091277C	WDR62	NM_001083961.2(WDR62):c.2112G>C:p.Ser704=	coding	Benign/Likely_benign
19	36091368	G	A	G36091368A	WDR62	NM_001083961.2(WDR62):c.2147-34G>A	noncoding	Benign
19	36091745	C	T	C36091745T	WDR62	NM_001083961.2(WDR62):c.2210+280C>T	noncoding	Benign
19	36091766	C	G	C36091766G	WDR62	NM_001083961.2(WDR62):c.2210+301C>G	noncoding	Benign
19	36092749	G	A	G36092749A	WDR62	NM_001083961.2(WDR62):c.2271G>A:p.Leu757=	coding	Benign
19	36092759	C	T	C36092759T	WDR62	NM_001083961.2(WDR62):c.2281C>T:p.His761Tyr	coding	Benign
19	36092790	A	G	A36092790G	WDR62	NM_001083961.2(WDR62):c.2312A>G:p.Lys771Arg	coding	Benign
19	36093700	C	T	C36093700T	WDR62	NM_001083961.2(WDR62):c.2334-331C>T	noncoding	Benign
19	36093879	G	A	G36093879A	WDR62	NM_001083961.2(WDR62):c.2334-152G>A	noncoding	Benign
19	36094002	C	T	C36094002T	WDR62	NM_001083961.2(WDR62):c.2334-29C>T	noncoding	Benign
19	36094025	C	A	C36094025A	WDR62	NM_001083961.2(WDR62):c.2334-6C>A	noncoding	Benign/Likely_benign
19	36094166	T	G	T36094166G	WDR62	NM_001083961.2(WDR62):c.2467+2T>G	noncoding	Pathogenic
19	36094272	G	A	G36094272A	WDR62	NM_001083961.2(WDR62):c.2467+108G>A	noncoding	Benign
19	36097084	G	T	G36097084T	WDR62	NM_001083961.2(WDR62):c.2520+5G>T	noncoding	Pathogenic
19	36099259	C	T	C36099259T	WDR62	NM_001083961.2(WDR62):c.2521-140C>T	noncoding	Benign
19	36099266	G	A	G36099266A	WDR62	NM_001083961.2(WDR62):c.2521-133G>A	noncoding	Benign
19	36099386	G	C	G36099386C	WDR62	NM_001083961.2(WDR62):c.2521-13G>C	noncoding	Benign
19	36099427	T	C	T36099427C	WDR62	NM_001083961.2(WDR62):c.2549T>C:p.Leu850Ser	coding	Benign
19	36099453	C	T	C36099453T	WDR62	NM_001083961.2(WDR62):c.2575C>T:p.Gln859Ter	coding	Pathogenic
19	36099466	G	A	G36099466A	WDR62	NM_001083961.2(WDR62):c.2588G>A:p.Arg863His	coding	Pathogenic
19	36099533	C	G	C36099533G	WDR62	NM_001083961.2(WDR62):c.2655C>G:p.Tyr885Ter	coding	Pathogenic
19	36099790	G	A	G36099790A	WDR62	NM_001083961.2(WDR62):c.2739+173G>A	noncoding	Benign
19	36100514	A	G	A36100514G	WDR62	NM_001083961.2(WDR62):c.2740-234A>G	noncoding	Benign
19	36100529	G	C	G36100529C	WDR62	NM_001083961.2(WDR62):c.2740-219G>C	noncoding	Benign
19	36100796	C	T	C36100796T	WDR62	NM_001083961.2(WDR62):c.2788C>T:p.Gln930Ter	coding	Pathogenic
19	36101455	C	T	C36101455T	WDR62	NM_001083961.2(WDR62):c.2971+138C>T	noncoding	Benign
19	36101667	C	T	C36101667T	WDR62	NM_001083961.2(WDR62):c.2975C>T:p.Ser992Leu	coding	Benign/Likely_benign
19	36101683	C	T	C36101683T	WDR62	NM_001083961.2(WDR62):c.2991C>T:p.Ala997=	coding	Benign/Likely_benign
19	36101725	G	A	G36101725A	WDR62	NM_001083961.2(WDR62):c.3033G>A:p.Pro1011=	coding	Benign
19	36101850	G	T	G36101850T	WDR62	NM_001083961.2(WDR62):c.3082+76G>T	noncoding	Benign
19	36102747	C	T	C36102747T	WDR62	NM_001083961.2(WDR62):c.3231C>T:p.Pro1077=	coding	Benign
19	36102820	C	T	C36102820T	WDR62	NM_001083961.2(WDR62):c.3304C>T:p.Gln1102Ter	coding	Pathogenic
19	36103013	T	G	T36103013G	WDR62	NM_001083961.2(WDR62):c.3401T>G:p.Met1134Arg	coding	Benign
19	36103161	C	T	C36103161T	WDR62	NM_001083961.2(WDR62):c.3468C>T:p.Leu1156=	coding	Benign
19	36103208	G	A	G36103208A	WDR62	NM_001083961.2(WDR62):c.3514+1G>A	coding	Pathogenic
19	36103251	G	A	G36103251A	WDR62	NM_001083961.2(WDR62):c.3514+44G>A	noncoding	Benign
19	36103467	C	T	C36103467T	WDR62	NM_001083961.2(WDR62):c.3639C>T:p.Ser1213=	coding	Benign
19	36103502	G	A	G36103502A	WDR62	NM_001083961.2(WDR62):c.3674G>A:p.Arg1225His	coding	Benign
19	36103614	C	T	C36103614T	WDR62	NM_001083961.2(WDR62):c.3786C>T:p.Gly1262=	coding	Benign/Likely_benign
19	36103640	C	T	C36103640T	WDR62	NM_001083961.2(WDR62):c.3812C>T:p.Ala1271Val	coding	Benign/Likely_benign
19	36103757	A	T	A36103757T	WDR62	NM_001083961.2(WDR62):c.3929A>T:p.Gln1310Leu	coding	Benign
19	36103951	G	A	G36103951A	WDR62	NM_001083961.2(WDR62):c.4123G>A:p.Gly1375Ser	coding	Benign
19	36104134	G	T	G36104134T	WDR62	NM_001083961.2(WDR62):c.4153+153G>T	noncoding	Benign
19	36104356	G	C	G36104356C	WDR62	NM_001083961.2(WDR62):c.4154-162G>C	noncoding	Benign
19	36104534	A	C	A36104534C	WDR62	NM_001083961.2(WDR62):c.4170A>C:p.Leu1390Phe	coding	Benign
19	36104763	T	G	T36104763G	WDR62	NM_001083961.2(WDR62):c.4312-5T>G	noncoding	Benign/Likely_benign
19	36104794	C	T	C36104794T	WDR62	NM_001083961.2(WDR62):c.4338C>T:p.Thr1446=	coding	Benign/Likely_benign
19	36341048	C	G	C36341048G	ZFP14	NM_020917.3(ZFP14):c.778G>C:p.Glu260Gln	coding	Benign
19	36341525	A	T	A36341525T	ZFP14	NM_020917.3(ZFP14):c.301T>A:p.Phe101Ile	coding	Benign
19	36877633	G	C	G36877633C	ZNF345	NM_001242472.2(ZNF345):c.803G>C:p.Ser268Thr	coding	Benign
19	36878280	T	C	T36878280C	ZNF345	NM_001242472.2(ZNF345):c.1450T>C:p.Leu484=	coding	Benign
19	36949837	A	G	A36949837G	ZNF568	NM_198539.4(ZNF568):c.684A>G:p.Gly228=	coding	Benign
19	37347220	T	G	T37347220G	ZNF875	NM_181786.3(ZNF875):c.121T>G:p.Tyr41Asp	coding	Benign
19	37347309	C	T	C37347309T	ZNF875	NM_181786.3(ZNF875):c.210C>T:p.Val70=	coding	Benign
19	37565472	C	T	C37565472T	ZNF571	NM_016536.5(ZNF571):c.956G>A:p.Gly319Asp	coding	Benign
19	37698833	C	T	C37698833T	ZNF607	NM_032689.5(ZNF607):c.1298G>A:p.Arg433His	coding	Benign
19	37885026	C	T	C37885026T	WDR87	NM_001291088.2(WDR87):c.8645G>A:p.Arg2882Gln	coding	Benign
19	37885463	A	G	A37885463G	WDR87	NM_001291088.2(WDR87):c.8208T>C:p.Phe2736=	coding	Benign
19	37885845	T	A	T37885845A	WDR87	NM_001291088.2(WDR87):c.7826A>T:p.His2609Leu	coding	Benign
19	37886924	T	C	T37886924C	WDR87	NM_001291088.2(WDR87):c.6747A>G:p.Lys2249=	coding	Benign
19	37887132	C	T	C37887132T	WDR87	NM_001291088.2(WDR87):c.6539G>A:p.Arg2180Gln	coding	Benign
19	37887133	G	A	G37887133A	WDR87	NM_001291088.2(WDR87):c.6538C>T:p.Arg2180Trp	coding	Benign
19	37887467	G	A	G37887467A	WDR87	NM_001291088.2(WDR87):c.6204C>T:p.Ser2068=	coding	Benign
19	37887899	G	C	G37887899C	WDR87	NM_001291088.2(WDR87):c.5772C>G:p.Asn1924Lys	coding	Benign
19	37888806	C	T	C37888806T	WDR87	NM_001291088.2(WDR87):c.4865G>A:p.Arg1622Gln	coding	Benign
19	37891688	C	T	C37891688T	WDR87	NM_001291088.2(WDR87):c.3258G>A:p.Pro1086=	coding	Benign
19	37893781	C	G	C37893781G	WDR87	NM_001291088.2(WDR87):c.1922G>C:p.Gly641Ala	coding	Benign
19	38081640	C	T	C38081640T	SIPA1L3	NM_015073.3(SIPA1L3):c.75C>T:p.Val25=	coding	Benign
19	38081906	C	A	C38081906A	SIPA1L3	NM_015073.3(SIPA1L3):c.341C>A:p.Ala114Asp	coding	Benign
19	38081957	C	T	C38081957T	SIPA1L3	NM_015073.3(SIPA1L3):c.392C>T:p.Ala131Val	coding	Benign
19	38082413	C	T	C38082413T	SIPA1L3	NM_015073.3(SIPA1L3):c.848C>T:p.Ala283Val	coding	Benign/Likely_benign
19	38082499	G	T	G38082499T	SIPA1L3	NM_015073.3(SIPA1L3):c.934G>T:p.Gly312Trp	coding	Benign
19	38082509	G	C	G38082509C	SIPA1L3	NM_015073.3(SIPA1L3):c.944G>C:p.Gly315Ala	coding	Benign
19	38082570	G	A	G38082570A	SIPA1L3	NM_015073.3(SIPA1L3):c.1005G>A:p.Val335=	coding	Benign
19	38082693	C	T	C38082693T	SIPA1L3	NM_015073.3(SIPA1L3):c.1128C>T:p.Ser376=	coding	Benign
19	38082717	C	G	C38082717G	SIPA1L3	NM_015073.3(SIPA1L3):c.1152C>G:p.Leu384=	coding	Benign/Likely_benign
19	38082726	G	A	G38082726A	SIPA1L3	NM_015073.3(SIPA1L3):c.1161G>A:p.Ser387=	coding	Benign
19	38082810	C	T	C38082810T	SIPA1L3	NM_015073.3(SIPA1L3):c.1245C>T:p.Leu415=	coding	Benign
19	38100119	C	T	C38100119T	SIPA1L3	NM_015073.3(SIPA1L3):c.1823C>T:p.Thr608Met	coding	Benign
19	38119330	C	T	C38119330T	SIPA1L3	NM_015073.3(SIPA1L3):c.2316C>T:p.Asp772=	coding	Benign
19	38119673	G	A	G38119673A	SIPA1L3	NM_015073.3(SIPA1L3):c.2659G>A:p.Asp887Asn	coding	Benign
19	38119864	G	A	G38119864A	SIPA1L3	NM_015073.3(SIPA1L3):c.2850G>A:p.Glu950=	coding	Benign
19	38152899	C	T	C38152899T	SIPA1L3	NM_015073.3(SIPA1L3):c.3593C>T:p.Thr1198Met	coding	Benign
19	38152921	C	T	C38152921T	SIPA1L3	NM_015073.3(SIPA1L3):c.3615C>T:p.Ser1205=	coding	Benign
19	38162323	G	A	G38162323A	SIPA1L3	NM_015073.3(SIPA1L3):c.3732G>A:p.Pro1244=	coding	Benign
19	38162353	C	T	C38162353T	SIPA1L3	NM_015073.3(SIPA1L3):c.3762C>T:p.Ser1254=	coding	Benign
19	38164595	C	A	C38164595A	SIPA1L3	NM_015073.3(SIPA1L3):c.3897C>A:p.Asp1299Glu	coding	Benign
19	38164687	G	T	G38164687T	SIPA1L3	NM_015073.3(SIPA1L3):c.3989G>T:p.Arg1330Leu	coding	Benign
19	38164749	G	A	G38164749A	SIPA1L3	NM_015073.3(SIPA1L3):c.4051G>A:p.Ala1351Thr	coding	Benign
19	38164809	G	A	G38164809A	SIPA1L3	NM_015073.3(SIPA1L3):c.4111G>A:p.Gly1371Ser	coding	Benign
19	38182658	C	G	C38182658G	SIPA1L3	NM_015073.3(SIPA1L3):c.4348C>G:p.Pro1450Ala	coding	Benign
19	38192203	C	T	C38192203T	SIPA1L3	NM_015073.3(SIPA1L3):c.4489C>T:p.Arg1497Ter	coding	Pathogenic
19	38192241	C	T	C38192241T	SIPA1L3	NM_015073.3(SIPA1L3):c.4527C>T:p.Thr1509=	coding	Benign
19	38193621	G	C	G38193621C	SIPA1L3	NM_015073.3(SIPA1L3):c.4681G>C:p.Ala1561Pro	coding	Benign
19	38193665	C	T	C38193665T	SIPA1L3	NM_015073.3(SIPA1L3):c.4725C>T:p.Ser1575=	coding	Benign
19	38193731	C	T	C38193731T	SIPA1L3	NM_015073.3(SIPA1L3):c.4791C>T:p.Val1597=	coding	Benign
19	38206207	G	A	G38206207A	SIPA1L3	NM_015073.3(SIPA1L3):c.5313G>A:p.Ala1771=	coding	Benign
19	38264893	A	T	A38264893T	SPINT2	NM_021102.4(SPINT2):c.1A>T:p.Met1Leu	coding	Pathogenic
19	38283804	T	C	T38283804C	SPINT2	NM_021102.4(SPINT2):c.277+7T>C	noncoding	Benign
19	38287937	T	C	T38287937C	SPINT2	NM_021102.4(SPINT2):c.337+2T>C	noncoding	Pathogenic
19	38290174	G	A	G38290174A	SPINT2	NM_021102.4(SPINT2):c.447G>A:p.Trp149Ter	coding	Pathogenic
19	38290215	A	G	A38290215G	SPINT2	NM_021102.4(SPINT2):c.488A>G:p.Tyr163Cys	coding	Pathogenic
19	38290229	G	A	G38290229A	SPINT2	NM_021102.4(SPINT2):c.502G>A:p.Gly168Ser	coding	Pathogenic
19	38290282	T	A	T38290282A	SPINT2	NM_021102.4(SPINT2):c.553+2T>A	noncoding	Pathogenic
19	38290578	A	G	A38290578G	SPINT2	NM_021102.4(SPINT2):c.592+3A>G	noncoding	Benign
19	38291839	G	A	G38291839A	SPINT2	NM_021102.4(SPINT2):c.593-1G>A	noncoding	Pathogenic
19	38374779	G	A	G38374779A	PSMD8	NM_002812.4(PSMD8):c.178G>A:p.Ala60Thr	coding	Benign
19	38374946	G	A	G38374946A	PSMD8	NM_002812.4(PSMD8):c.345G>A:p.Glu115=	coding	Benign
19	38380925	A	G	A38380925G	PSMD8	NM_002812.4(PSMD8):c.729A>G:p.Lys243=	coding	Benign
19	38384432	G	A	G38384432A	GGN	NM_152657.4(GGN):c.1939C>T:p.Gln647Ter	coding	Benign
19	38384432	G	C	G38384432C	GGN	NM_152657.4(GGN):c.1939C>G:p.Gln647Glu	coding	Benign
19	38385623	C	T	C38385623T	GGN	NM_152657.4(GGN):c.1639G>A:p.Gly547Ser	coding	Benign
19	38386048	C	T	C38386048T	GGN	NM_152657.4(GGN):c.1214G>A:p.Arg405Lys	coding	Benign
19	38386085	G	A	G38386085A	GGN	NM_152657.4(GGN):c.1177C>T:p.Pro393Ser	coding	Benign
19	38386118	C	T	C38386118T	GGN	NM_152657.4(GGN):c.1144G>A:p.Ala382Thr	coding	Benign
19	38386158	C	T	C38386158T	GGN	NM_152657.4(GGN):c.1104G>A:p.Gly368=	coding	Benign
19	38386304	C	T	C38386304T	GGN	NM_152657.4(GGN):c.958G>A:p.Glu320Lys	coding	Benign
19	38386669	G	A	G38386669A	GGN	NM_152657.4(GGN):c.593C>T:p.Pro198Leu	coding	Benign
19	38386780	G	T	G38386780T	GGN	NM_152657.4(GGN):c.482C>A:p.Pro161Gln	coding	Benign
19	38387192	G	A	G38387192A	GGN	NM_152657.4(GGN):c.70C>T:p.Pro24Ser	coding	Benign
19	38390455	C	T	C38390455T	SPRED3	NM_001042522.2(SPRED3):c.153C>T:p.His51=	coding	Benign
19	38406908	A	C	A38406908C	FAM98C	NM_174905.3(FAM98C):c.751-2A>C	noncoding	Benign
19	38412690	G	A	G38412690A	RASGRP4	NM_170604.3(RASGRP4):c.1662C>T:p.Cys554=	coding	Benign
19	38415075	G	C	G38415075C	RASGRP4	NM_170604.3(RASGRP4):c.1003C>G:p.Arg335Gly	coding	Benign
19	38433722	T	C	T38433722C	RYR1	NM_000540.2(RYR1):c.-108T>C	noncoding	Benign
19	38433728	C	T	C38433728T	RYR1	NM_000540.2(RYR1):c.-102C>T	noncoding	Benign/Likely_benign
19	38433906	C	A	C38433906A	RYR1	NM_000540.2(RYR1):c.45+32C>A	noncoding	Benign
19	38434174	T	C	T38434174C	RYR1	NM_000540.2(RYR1):c.45+300T>C	noncoding	Benign
19	38440862	C	T	C38440862T	RYR1	NM_000540.2(RYR1):c.163C>T:p.Gln55Ter	coding	Pathogenic
19	38442305	G	C	G38442305C	RYR1	NM_000540.2(RYR1):c.166-44G>C	noncoding	Benign
19	38442361	G	A	G38442361A	RYR1	NM_000540.2(RYR1):c.178G>A:p.Asp60Asn	coding	Pathogenic/Likely_pathogenic
19	38442391	C	T	C38442391T	RYR1	NM_000540.2(RYR1):c.208C>T:p.Gln70Ter	coding	Pathogenic
19	38442399	G	T	G38442399T	RYR1	NM_000540.2(RYR1):c.216G>T:p.Leu72=	coding	Benign/Likely_benign
19	38442406	C	T	C38442406T	RYR1	NM_000540.2(RYR1):c.223C>T:p.Arg75Ter	coding	Pathogenic
19	38442480	G	A	G38442480A	RYR1	NM_000540.2(RYR1):c.270+27G>A	noncoding	Benign
19	38442775	A	C	A38442775C	RYR1	NM_000540.2(RYR1):c.270+322A>C	noncoding	Benign
19	38443265	A	G	A38443265G	RYR1	NM_000540.2(RYR1):c.271-293A>G	noncoding	Benign
19	38443410	A	G	A38443410G	RYR1	NM_000540.2(RYR1):c.271-148A>G	noncoding	Benign
19	38443584	G	A	G38443584A	RYR1	NM_000540.3(RYR1):c.297G>A:p.Thr99=	coding	Benign/Likely_benign
19	38443612	C	T	C38443612T	RYR1	NM_000540.2(RYR1):c.325C>T:p.Arg109Trp	coding	Pathogenic/Likely_pathogenic
19	38444203	A	G	A38444203G	RYR1	NM_000540.2(RYR1):c.479A>G:p.Glu160Gly	coding	Pathogenic
19	38444253	C	T	C38444253T	RYR1	NM_000540.2(RYR1):c.529C>T:p.Arg177Cys	coding	Pathogenic
19	38444619	C	T	C38444619T	RYR1	NM_000540.2(RYR1):c.573C>T:p.Asp191=	coding	Benign/Likely_benign
19	38444640	A	G	A38444640G	RYR1	NM_000540.3(RYR1):c.594A>G:p.Leu198=	coding	Benign/Likely_benign
19	38444678	G	T	G38444678T	RYR1	NM_000540.3(RYR1):c.631+1G>T	coding	Pathogenic
19	38444726	C	T	C38444726T	RYR1	NM_000540.2(RYR1):c.631+49C>T	noncoding	Benign
19	38446196	C	T	C38446196T	RYR1	NM_000540.2(RYR1):c.632-276C>T	noncoding	Benign
19	38446484	G	A	G38446484A	RYR1	NM_000540.2(RYR1):c.644G>A:p.Gly215Glu	coding	Pathogenic
19	38446706	T	G	T38446706G	RYR1	NM_000540.2(RYR1):c.738T>G:p.Tyr246Ter	coding	Pathogenic
19	38446710	G	C	G38446710C	RYR1	NM_000540.2(RYR1):c.742G>C:p.Gly248Arg	coding	Pathogenic
19	38446752	G	T	G38446752T	RYR1	NM_000540.2(RYR1):c.784G>T:p.Glu262Ter	coding	Pathogenic
19	38446910	T	G	T38446910G	RYR1	NM_000540.2(RYR1):c.800+142T>G	noncoding	Benign
19	38448392	C	T	C38448392T	RYR1	NM_000540.2(RYR1):c.838C>T:p.Arg280Ter	coding	Pathogenic
19	38448427	G	A	G38448427A	RYR1	NM_000540.2(RYR1):c.873G>A:p.Ala291=	coding	Benign/Likely_benign
19	38448451	G	C	G38448451C	RYR1	NM_000540.2(RYR1):c.897G>C:p.Val299=	coding	Benign/Likely_benign
19	38448460	C	T	C38448460T	RYR1	NM_000540.2(RYR1):c.906C>T:p.Asp302=	coding	Benign/Likely_benign
19	38448649	G	A	G38448649A	RYR1	NM_000540.2(RYR1):c.958G>A:p.Glu320Lys	coding	Pathogenic
19	38448768	T	C	T38448768C	RYR1	NM_000540.3(RYR1):c.1077T>C:p.Ala359=	coding	Benign
19	38448865	T	C	T38448865C	RYR1	NM_000540.2(RYR1):c.1122+52T>C	noncoding	Benign
19	38451608	G	A	G38451608A	RYR1	NM_000540.2(RYR1):c.1123-156G>A	noncoding	Benign
19	38451843	G	A	G38451843A	RYR1	NM_000540.2(RYR1):c.1202G>A:p.Arg401His	coding	Pathogenic
19	38451843	G	T	G38451843T	RYR1	NM_000540.3(RYR1):c.1202G>T:p.Arg401Leu	coding	Pathogenic
19	38451846	T	C	T38451846C	RYR1	NM_000540.2(RYR1):c.1205T>C:p.Met402Thr	coding	Pathogenic
19	38452790	C	T	C38452790T	RYR1	NM_000540.2(RYR1):c.1245-29C>T	noncoding	Benign
19	38452854	C	T	C38452854T	RYR1	NM_000540.2(RYR1):c.1280C>T:p.Ser427Leu	coding	Pathogenic
19	38453088	G	A	G38453088A	RYR1	NM_000540.2(RYR1):c.1440+74G>A	noncoding	Benign
19	38455000	A	G	A38455000G	RYR1	NM_000540.2(RYR1):c.1441-235A>G	noncoding	Benign
19	38455203	T	C	T38455203C	RYR1	NM_000540.2(RYR1):c.1441-32T>C	noncoding	Benign
19	38455211	T	C	T38455211C	RYR1	NM_000540.2(RYR1):c.1441-24T>C	noncoding	Benign
19	38455328	G	A	G38455328A	RYR1	NM_000540.2(RYR1):c.1534G>A:p.Glu512Lys	coding	Pathogenic
19	38455336	G	A	G38455336A	RYR1	NM_000540.3(RYR1):c.1542G>A:p.Trp514Ter	coding	Pathogenic
19	38455445	C	G	C38455445G	RYR1	NM_000540.2(RYR1):c.1577-6C>G	noncoding	Benign/Likely_benign
19	38455471	C	T	C38455471T	RYR1	NM_000540.2(RYR1):c.1597C>T:p.Arg533Cys	coding	Pathogenic
19	38455542	G	A	G38455542A	RYR1	NM_000540.3(RYR1):c.1668G>A:p.Ser556=	coding	Benign
19	38455575	G	C	G38455575C	RYR1	NM_000540.2(RYR1):c.1672+29G>C	noncoding	Benign
19	38457546	G	T	G38457546T	RYR1	NM_000540.2(RYR1):c.1841G>T:p.Arg614Leu	coding	Pathogenic
19	38457628	C	G	C38457628G	RYR1	NM_000540.2(RYR1):c.1923C>G:p.Thr641=	coding	Benign/Likely_benign
19	38457716	T	C	T38457716C	RYR1	NM_000540.2(RYR1):c.1925+86T>C	noncoding	Benign
19	38457780	C	G	C38457780G	RYR1	NM_000540.2(RYR1):c.1925+150C>G	noncoding	Benign
19	38458107	G	A	G38458107A	RYR1	NM_000540.2(RYR1):c.1982G>A:p.Trp661Ter	coding	Pathogenic
19	38458108	G	A	G38458108A	RYR1	NM_000540.3(RYR1):c.1983G>A:p.Trp661Ter	coding	Pathogenic
19	38458129	C	T	C38458129T	RYR1	NM_000540.2(RYR1):c.2004C>T:p.Asp668=	coding	Benign/Likely_benign
19	38458154	C	T	C38458154T	RYR1	NM_000540.2(RYR1):c.2029C>T:p.Gln677Ter	coding	Pathogenic
19	38458323	C	G	C38458323G	RYR1	NM_000540.2(RYR1):c.2167+31C>G	noncoding	Benign
19	38458865	C	T	C38458865T	RYR1	NM_000540.2(RYR1):c.2168-281C>T	noncoding	Benign
19	38459089	T	G	T38459089G	RYR1	NM_000540.2(RYR1):c.2168-57T>G	noncoding	Benign
19	38459116	C	T	C38459116T	RYR1	NM_000540.2(RYR1):c.2168-30C>T	noncoding	Benign
19	38459201	C	T	C38459201T	RYR1	NM_000540.2(RYR1):c.2223C>T:p.Asp741=	coding	Benign/Likely_benign
19	38459219	G	A	G38459219A	RYR1	NM_000540.2(RYR1):c.2241G>A:p.Leu747=	coding	Benign/Likely_benign
19	38459264	C	T	C38459264T	RYR1	NM_000540.3(RYR1):c.2286C>T:p.Pro762=	coding	Benign
19	38460307	C	T	C38460307T	RYR1	NM_000540.2(RYR1):c.2361-68C>T	noncoding	Benign
19	38460333	A	G	A38460333G	RYR1	NM_000540.2(RYR1):c.2361-42A>G	noncoding	Benign
19	38460429	T	C	T38460429C	RYR1	NM_000540.2(RYR1):c.2415T>C:p.Pro805=	coding	Benign/Likely_benign
19	38460499	C	T	C38460499T	RYR1	NM_000540.2(RYR1):c.2485C>T:p.Arg829Ter	coding	Pathogenic
19	38460616	T	C	T38460616C	RYR1	NM_000540.2(RYR1):c.2577+25T>C	noncoding	Benign
19	38463356	A	G	A38463356G	RYR1	NM_000540.2(RYR1):c.2578-67A>G	noncoding	Benign
19	38463467	G	A	G38463467A	RYR1	NM_000540.2(RYR1):c.2622G>A:p.Ala874=	coding	Benign/Likely_benign
19	38463522	G	A	G38463522A	RYR1	NM_000540.2(RYR1):c.2677G>A:p.Gly893Ser	coding	Benign/Likely_benign
19	38464723	G	A	G38464723A	RYR1	NM_000540.2(RYR1):c.2870+1G>A	coding	Pathogenic/Likely_pathogenic
19	38464741	G	A	G38464741A	RYR1	NM_000540.2(RYR1):c.2870+19G>A	noncoding	Benign
19	38464943	G	A	G38464943A	RYR1	NM_000540.2(RYR1):c.2870+221G>A	noncoding	Benign
19	38466139	C	T	C38466139T	RYR1	NM_000540.2(RYR1):c.2919C>T:p.His973=	coding	Benign/Likely_benign
19	38466163	G	A	G38466163A	RYR1	NM_000540.3(RYR1):c.2943G>A:p.Thr981=	coding	Benign
19	38466199	C	T	C38466199T	RYR1	NM_000540.3(RYR1):c.2979C>T:p.Asn993=	coding	Benign
19	38466204	G	A	G38466204A	RYR1	NM_000540.2(RYR1):c.2984G>A:p.Trp995Ter	coding	Pathogenic
19	38466262	G	A	G38466262A	RYR1	NM_000540.2(RYR1):c.3042G>A:p.Ala1014=	coding	Benign/Likely_benign
19	38467757	G	A	G38467757A	RYR1	NM_000540.2(RYR1):c.3326G>A:p.Arg1109Lys	coding	Benign/Likely_benign
19	38467813	G	A	G38467813A	RYR1	NM_000540.2(RYR1):c.3381+1G>A	coding	Pathogenic
19	38469040	C	T	C38469040T	RYR1	NM_000540.3(RYR1):c.3456C>T:p.Ile1152=	coding	Benign
19	38469299	C	T	C38469299T	RYR1	NM_000540.2(RYR1):c.3557-6C>T	noncoding	Benign/Likely_benign
19	38469366	C	T	C38469366T	RYR1	NM_000540.2(RYR1):c.3618C>T:p.Asp1206=	coding	Benign/Likely_benign
19	38469436	C	T	C38469436T	RYR1	NM_000540.2(RYR1):c.3688C>T:p.Gln1230Ter	coding	Pathogenic
19	38469667	C	G	C38469667G	RYR1	NM_000540.2(RYR1):c.3765+154C>G	noncoding	Benign
19	38473469	T	C	T38473469C	RYR1	NM_000540.2(RYR1):c.3858T>C:p.Leu1286=	coding	Benign
19	38473487	C	A	C38473487A	RYR1	NM_000540.2(RYR1):c.3876C>A:p.Leu1292=	coding	Benign/Likely_benign
19	38473557	C	A	C38473557A	RYR1	NM_000540.2(RYR1):c.3946C>A:p.Pro1316Thr	coding	Benign
19	38473583	G	A	G38473583A	RYR1	NM_000540.2(RYR1):c.3972G>A:p.Ala1324=	coding	Benign/Likely_benign
19	38473635	A	G	A38473635G	RYR1	NM_000540.2(RYR1):c.4024A>G:p.Ser1342Gly	coding	Benign
19	38473666	C	G	C38473666G	RYR1	NM_000540.2(RYR1):c.4055C>G:p.Ala1352Gly	coding	Benign/Likely_benign
19	38473682	C	T	C38473682T	RYR1	NM_000540.2(RYR1):c.4071C>T:p.Pro1357=	coding	Benign/Likely_benign
19	38473718	C	T	C38473718T	RYR1	NM_000540.2(RYR1):c.4107C>T:p.Pro1369=	coding	Benign
19	38473885	T	G	T38473885G	RYR1	NM_000540.2(RYR1):c.4160+114T>G	noncoding	Benign
19	38475244	G	T	G38475244T	RYR1	NM_000540.2(RYR1):c.4161-74G>T	noncoding	Benign
19	38475312	T	C	T38475312C	RYR1	NM_000540.2(RYR1):c.4161-6T>C	noncoding	Benign
19	38475382	C	T	C38475382T	RYR1	NM_000540.2(RYR1):c.4225C>T:p.Arg1409Ter	coding	Pathogenic
19	38475571	T	C	T38475571C	RYR1	NM_000540.2(RYR1):c.4293+121T>C	noncoding	Benign
19	38475616	T	C	T38475616C	RYR1	NM_000540.2(RYR1):c.4293+166T>C	noncoding	Benign
19	38475649	A	G	A38475649G	RYR1	NM_000540.2(RYR1):c.4293+199A>G	noncoding	Benign
19	38477859	C	T	C38477859T	RYR1	NM_000540.2(RYR1):c.4443C>T:p.Asn1481=	coding	Benign/Likely_benign
19	38477899	G	A	G38477899A	RYR1	NM_000540.2(RYR1):c.4454+29G>A	noncoding	Benign
19	38477976	T	C	T38477976C	RYR1	NM_000540.2(RYR1):c.4454+106T>C	noncoding	Benign
19	38478300	T	G	T38478300G	RYR1	NM_000540.2(RYR1):c.4455-135T>G	noncoding	Benign
19	38482993	C	T	C38482993T	RYR1	NM_000540.2(RYR1):c.4621-34C>T	noncoding	Benign
19	38483078	C	T	C38483078T	RYR1	NM_000540.2(RYR1):c.4672C>T:p.Gln1558Ter	coding	Pathogenic
19	38483301	G	A	G38483301A	RYR1	NM_000540.2(RYR1):c.4719G>A:p.Pro1573=	coding	Benign/Likely_benign
19	38483340	G	A	G38483340A	RYR1	NM_000540.2(RYR1):c.4758G>A:p.Pro1586=	coding	Benign/Likely_benign
19	38485692	C	G	C38485692G	RYR1	NM_000540.2(RYR1):c.5037C>G:p.Arg1679=	coding	Benign/Likely_benign
19	38485767	C	T	C38485767T	RYR1	NM_000540.2(RYR1):c.5112C>T:p.Gly1704=	coding	Benign
19	38485838	C	T	C38485838T	RYR1	NM_000540.2(RYR1):c.5183C>T:p.Ser1728Phe	coding	Pathogenic/Likely_pathogenic
19	38485873	G	T	G38485873T	RYR1	NM_000540.2(RYR1):c.5218G>T:p.Glu1740Ter	coding	Pathogenic
19	38485988	C	A	C38485988A	RYR1	NM_000540.2(RYR1):c.5333C>A:p.Ser1778Ter	coding	Pathogenic
19	38485989	G	T	G38485989T	RYR1	NM_000540.2(RYR1):c.5334G>T:p.Ser1778=	coding	Benign
19	38486015	C	T	C38486015T	RYR1	NM_000540.2(RYR1):c.5360C>T:p.Pro1787Leu	coding	Benign/Likely_benign
19	38486148	G	T	G38486148T	RYR1	NM_000540.2(RYR1):c.5493G>T:p.Gly1831=	coding	Benign/Likely_benign
19	38486150	G	C	G38486150C	RYR1	NM_000540.2(RYR1):c.5495G>C:p.Gly1832Ala	coding	Benign
19	38486164	C	T	C38486164T	RYR1	NM_000540.2(RYR1):c.5509C>T:p.Gln1837Ter	coding	Pathogenic
19	38486382	C	T	C38486382T	RYR1	NM_000540.2(RYR1):c.5547+180C>T	noncoding	Benign
19	38488916	A	T	A38488916T	RYR1	NM_000540.2(RYR1):c.5548-261A>T	noncoding	Benign
19	38489194	C	T	C38489194T	RYR1	NM_000540.2(RYR1):c.5565C>T:p.Gly1855=	coding	Benign/Likely_benign
19	38489251	A	G	A38489251G	RYR1	NM_000540.2(RYR1):c.5622A>G:p.Glu1874=	coding	Benign/Likely_benign
19	38489263	G	C	G38489263C	RYR1	NM_000540.2(RYR1):c.5634G>C:p.Glu1878Asp	coding	Benign/Likely_benign
19	38489378	G	T	G38489378T	RYR1	NM_000540.3(RYR1):c.5749G>T:p.Glu1917Ter	coding	Pathogenic
19	38489478	C	G	C38489478G	RYR1	NM_000540.2(RYR1):c.5814+35C>G	noncoding	Benign
19	38489849	T	C	T38489849C	RYR1	NM_000540.2(RYR1):c.5815-227T>C	noncoding	Benign
19	38489953	G	A	G38489953A	RYR1	NM_000540.2(RYR1):c.5815-123G>A	noncoding	Benign
19	38490644	A	G	A38490644G	RYR1	NM_000540.3(RYR1):c.6039A>G:p.Lys2013=	coding	Benign
19	38490709	A	T	A38490709T	RYR1	NM_000540.2(RYR1):c.6104A>T:p.His2035Leu	coding	Pathogenic
19	38490733	G	A	G38490733A	RYR1	NM_000540.2(RYR1):c.6127+1G>A	coding	Pathogenic/Likely_pathogenic
19	38490735	A	G	A38490735G	RYR1	NM_000540.2(RYR1):c.6127+3A>G	noncoding	Benign/Likely_benign
19	38490899	C	T	C38490899T	RYR1	NM_000540.2(RYR1):c.6127+167C>T	noncoding	Benign
19	38491072	T	C	T38491072C	RYR1	NM_000540.2(RYR1):c.6127+340T>C	noncoding	Benign
19	38492500	A	G	A38492500G	RYR1	NM_000540.2(RYR1):c.6138A>G:p.Leu2046=	coding	Benign/Likely_benign
19	38492540	G	T	G38492540T	RYR1	NM_000540.2(RYR1):c.6178G>T:p.Gly2060Cys	coding	Benign
19	38492594	G	T	G38492594T	RYR1	NM_000540.2(RYR1):c.6232G>T:p.Glu2078Ter	coding	Pathogenic
19	38492637	G	A	G38492637A	RYR1	NM_000540.2(RYR1):c.6274+1G>A	coding	Pathogenic/Likely_pathogenic
19	38492935	C	T	C38492935T	RYR1	NM_000540.2(RYR1):c.6274+299C>T	noncoding	Benign
19	38494461	C	T	C38494461T	RYR1	NM_000540.2(RYR1):c.6384C>T:p.Tyr2128=	coding	Benign/Likely_benign
19	38494464	C	T	C38494464T	RYR1	NM_000540.2(RYR1):c.6387C>T:p.Asp2129=	coding	Benign/Likely_benign
19	38494575	C	T	C38494575T	RYR1	NM_000540.2(RYR1):c.6498C>T:p.Leu2166=	coding	Benign/Likely_benign
19	38494594	C	T	C38494594T	RYR1	NM_000540.3(RYR1):c.6517C>T:p.Gln2173Ter	coding	Pathogenic
19	38494668	G	A	G38494668A	RYR1	NM_000540.2(RYR1):c.6548+43G>A	noncoding	Benign
19	38494820	T	C	T38494820C	RYR1	NM_000540.2(RYR1):c.6548+195T>C	noncoding	Benign
19	38496278	C	T	C38496278T	RYR1	NM_000540.2(RYR1):c.6612C>T:p.His2204=	coding	Benign/Likely_benign
19	38496283	C	T	C38496283T	RYR1	NM_000540.3(RYR1):c.6617C>T:p.Thr2206Met	coding	Pathogenic
19	38496377	A	G	A38496377G	RYR1	NM_000540.2(RYR1):c.6664-32A>G	noncoding	Benign
19	38496407	A	G	A38496407G	RYR1	NM_000540.2(RYR1):c.6664-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	38496466	C	T	C38496466T	RYR1	NM_000540.3(RYR1):c.6721C>T:p.Arg2241Ter	coding	Pathogenic
19	38496477	G	A	G38496477A	RYR1	NM_000540.2(RYR1):c.6732G>A:p.Arg2244=	coding	Benign/Likely_benign
19	38496810	A	G	A38496810G	RYR1	NM_000540.2(RYR1):c.6797-50A>G	noncoding	Benign/Likely_benign
19	38496910	A	C	A38496910C	RYR1	NM_000540.2(RYR1):c.6847A>C:p.Asn2283His	coding	Pathogenic
19	38497226	T	G	T38497226G	RYR1	NM_000540.2(RYR1):c.6891+272T>G	noncoding	Benign
19	38499270	C	T	C38499270T	RYR1	NM_000540.2(RYR1):c.7027+27C>T	noncoding	Benign
19	38499696	C	T	C38499696T	RYR1	NM_000540.3(RYR1):c.7089C>T:p.Cys2363=	coding	Benign
19	38499705	C	T	C38499705T	RYR1	NM_000540.3(RYR1):c.7098C>T:p.Pro2366=	coding	Benign
19	38499718	G	A	G38499718A	RYR1	NM_000540.2(RYR1):c.7111G>A:p.Glu2371Lys	coding	Pathogenic/Likely_pathogenic
19	38499816	C	T	C38499816T	RYR1	NM_000540.2(RYR1):c.7209C>T:p.Arg2403=	coding	Benign
19	38499817	G	T	G38499817T	RYR1	NM_000540.2(RYR1):c.7210G>T:p.Glu2404Ter	coding	Pathogenic
19	38499930	G	T	G38499930T	RYR1	NM_000540.2(RYR1):c.7237G>T:p.Glu2413Ter	coding	Pathogenic
19	38499953	C	T	C38499953T	RYR1	NM_000540.3(RYR1):c.7260C>T:p.His2420=	coding	Benign
19	38499961	T	A	T38499961A	RYR1	NM_000540.2(RYR1):c.7268T>A:p.Met2423Lys	coding	Pathogenic
19	38499974	C	T	C38499974T	RYR1	NM_000540.2(RYR1):c.7281C>T:p.Ala2427=	coding	Benign/Likely_benign
19	38499997	G	T	G38499997T	RYR1	NM_000540.2(RYR1):c.7304G>T:p.Arg2435Leu	coding	Pathogenic
19	38500036	C	A	C38500036A	RYR1	NM_000540.2(RYR1):c.7323+20C>A	noncoding	Benign
19	38500612	C	T	C38500612T	RYR1	NM_000540.3(RYR1):c.7330C>T:p.Gln2444Ter	coding	Pathogenic
19	38500640	T	C	T38500640C	RYR1	NM_000540.2(RYR1):c.7358T>C:p.Ile2453Thr	coding	Pathogenic
19	38500876	G	A	G38500876A	RYR1	NM_000540.3(RYR1):c.7500G>A:p.Ala2500=	coding	Benign
19	38500898	C	T	C38500898T	RYR1	NM_000540.2(RYR1):c.7522C>T:p.Arg2508Cys	coding	Pathogenic/Likely_pathogenic
19	38500903	G	A	G38500903A	RYR1	NM_000540.3(RYR1):c.7527G>A:p.Val2509=	coding	Benign
19	38500960	C	G	C38500960G	RYR1	NM_000540.2(RYR1):c.7584C>G:p.Pro2528=	coding	Benign/Likely_benign
19	38500960	C	T	C38500960T	RYR1	NM_000540.2(RYR1):c.7584C>T:p.Pro2528=	coding	Benign/Likely_benign
19	38501000	C	G	C38501000G	RYR1	NM_000540.3(RYR1):c.7614+10C>G	noncoding	Benign
19	38501249	C	T	C38501249T	RYR1	NM_000540.2(RYR1):c.7614+259C>T	noncoding	Benign
19	38502270	A	C	A38502270C	RYR1	NM_000540.2(RYR1):c.7615-237A>C	noncoding	Benign
19	38502500	G	A	G38502500A	RYR1	NM_000540.2(RYR1):c.7615-7G>A	noncoding	Benign/Likely_benign
19	38502527	G	C	G38502527C	RYR1	NM_000540.2(RYR1):c.7635G>C:p.Glu2545Asp	coding	Pathogenic
19	38502540	C	G	C38502540G	RYR1	NM_000540.2(RYR1):c.7648C>G:p.Leu2550Val	coding	Benign
19	38502680	C	T	C38502680T	RYR1	NM_000540.2(RYR1):c.7788C>T:p.Thr2596=	coding	Benign/Likely_benign
19	38502722	C	T	C38502722T	RYR1	NM_000540.2(RYR1):c.7830C>T:p.Leu2610=	coding	Benign/Likely_benign
19	38502732	A	G	A38502732G	RYR1	NM_000540.3(RYR1):c.7835+5A>G	noncoding	Benign
19	38502734	C	T	C38502734T	RYR1	NM_000540.2(RYR1):c.7835+7C>T	noncoding	Benign/Likely_benign
19	38502754	G	C	G38502754C	RYR1	NM_000540.2(RYR1):c.7835+27G>C	noncoding	Benign
19	38502863	T	C	T38502863C	RYR1	NM_000540.2(RYR1):c.7836-17T>C	noncoding	Benign/Likely_benign
19	38502873	C	T	C38502873T	RYR1	NM_000540.3(RYR1):c.7836-7C>T	noncoding	Benign
19	38502902	C	T	C38502902T	RYR1	NM_000540.3(RYR1):c.7858C>T:p.Gln2620Ter	coding	Pathogenic
19	38502904	G	A	G38502904A	RYR1	NM_000540.2(RYR1):c.7860G>A:p.Gln2620=	coding	Benign/Likely_benign
19	38502907	C	T	C38502907T	RYR1	NM_000540.3(RYR1):c.7863C>T:p.His2621=	coding	Benign
19	38502916	C	T	C38502916T	RYR1	NM_000540.3(RYR1):c.7872C>T:p.Arg2624=	coding	Benign
19	38502923	G	A	G38502923A	RYR1	NM_000540.3(RYR1):c.7879G>A:p.Val2627Met	coding	Pathogenic
19	38502925	G	A	G38502925A	RYR1	NM_000540.2(RYR1):c.7881G>A:p.Val2627=	coding	Benign/Likely_benign
19	38502998	A	G	A38502998G	RYR1	NM_000540.2(RYR1):c.7926+28A>G	noncoding	Benign
19	38504270	G	A	G38504270A	RYR1	NM_000540.3(RYR1):c.7977G>A:p.Thr2659=	coding	Benign
19	38504734	C	T	C38504734T	RYR1	NM_000540.2(RYR1):c.8068-14C>T	noncoding	Benign/Likely_benign
19	38504798	T	C	T38504798C	RYR1	NM_000540.3(RYR1):c.8118T>C:p.Ile2706=	coding	Benign
19	38504839	C	A	C38504839A	RYR1	NM_000540.2(RYR1):c.8159C>A:p.Ser2720Ter	coding	Pathogenic
19	38504870	T	C	T38504870C	RYR1	NM_000540.3(RYR1):c.8190T>C:p.Asp2730=	coding	Benign
19	38505305	C	T	C38505305T	RYR1	NM_000540.2(RYR1):c.8311-4C>T	noncoding	Benign
19	38505335	G	A	G38505335A	RYR1	NM_000540.3(RYR1):c.8337G>A:p.Glu2779=	coding	Benign
19	38505358	C	G	C38505358G	RYR1	NM_000540.2(RYR1):c.8360C>G:p.Thr2787Ser	coding	Benign/Likely_benign
19	38505359	C	T	C38505359T	RYR1	NM_000540.2(RYR1):c.8361C>T:p.Thr2787=	coding	Benign/Likely_benign
19	38505374	G	A	G38505374A	RYR1	NM_000540.2(RYR1):c.8376G>A:p.Arg2792=	coding	Benign/Likely_benign
19	38505426	A	G	A38505426G	RYR1	NM_000540.2(RYR1):c.8400+28A>G	noncoding	Benign
19	38505459	C	T	C38505459T	RYR1	NM_000540.2(RYR1):c.8400+61C>T	noncoding	Benign
19	38505980	C	T	C38505980T	RYR1	NM_000540.2(RYR1):c.8541+34C>T	noncoding	Benign
19	38505983	T	G	T38505983G	RYR1	NM_000540.2(RYR1):c.8541+37T>G	noncoding	Benign
19	38506000	A	G	A38506000G	RYR1	NM_000540.2(RYR1):c.8541+54A>G	noncoding	Benign
19	38506181	A	C	A38506181C	RYR1	NM_000540.2(RYR1):c.8542-122A>C	noncoding	Benign
19	38506350	T	C	T38506350C	RYR1	NM_000540.3(RYR1):c.8589T>C:p.Ser2863=	coding	Benign
19	38506384	G	A	G38506384A	RYR1	NM_000540.2(RYR1):c.8616+7G>A	noncoding	Benign/Likely_benign
19	38506420	G	C	G38506420C	RYR1	NM_000540.2(RYR1):c.8616+43G>C	noncoding	Benign
19	38506436	C	T	C38506436T	RYR1	NM_000540.2(RYR1):c.8617-35C>T	noncoding	Benign
19	38506574	T	G	T38506574G	RYR1	NM_000540.2(RYR1):c.8692+28T>G	noncoding	Benign
19	38506683	T	C	T38506683C	RYR1	NM_000540.2(RYR1):c.8692+137T>C	noncoding	Benign
19	38506819	G	C	G38506819C	RYR1	NM_000540.3(RYR1):c.8693-10G>C	noncoding	Benign
19	38506860	C	A	C38506860A	RYR1	NM_000540.2(RYR1):c.8724C>A:p.Tyr2908Ter	coding	Pathogenic
19	38506952	G	A	G38506952A	RYR1	NM_000540.2(RYR1):c.8816G>A:p.Arg2939Lys	coding	Pathogenic
19	38506969	T	A	T38506969A	RYR1	NM_000540.2(RYR1):c.8816+17T>A	noncoding	Benign
19	38506995	A	C	A38506995C	RYR1	NM_000540.2(RYR1):c.8816+43A>C	noncoding	Benign
19	38507039	G	T	G38507039T	RYR1	NM_000540.2(RYR1):c.8816+87G>T	noncoding	Benign
19	38507123	C	A	C38507123A	RYR1	NM_000540.2(RYR1):c.8816+171C>A	noncoding	Benign
19	38507256	C	T	C38507256T	RYR1	NM_000540.2(RYR1):c.8816+304C>T	noncoding	Benign
19	38507649	A	G	A38507649G	RYR1	NM_000540.2(RYR1):c.8817-63A>G	noncoding	Benign
19	38507722	G	A	G38507722A	RYR1	NM_000540.2(RYR1):c.8827G>A:p.Asp2943Asn	coding	Benign/Likely_benign
19	38507783	T	C	T38507783C	RYR1	NM_000540.2(RYR1):c.8888T>C:p.Leu2963Pro	coding	Pathogenic
19	38510514	T	C	T38510514C	RYR1	NM_000540.2(RYR1):c.8949T>C:p.Ser2983=	coding	Benign/Likely_benign
19	38510566	G	A	G38510566A	RYR1	NM_000540.3(RYR1):c.9000+1G>A	coding	Pathogenic
19	38510566	G	T	G38510566T	RYR1	NM_000540.2(RYR1):c.9000+1G>T	coding	Pathogenic
19	38511110	A	G	A38511110G	RYR1	NM_000540.2(RYR1):c.9122+329A>G	noncoding	Benign
19	38511500	C	T	C38511500T	RYR1	NM_000540.2(RYR1):c.9123-61C>T	noncoding	Benign
19	38511595	C	T	C38511595T	RYR1	NM_000540.3(RYR1):c.9157C>T:p.Arg3053Ter	coding	Pathogenic
19	38511974	T	G	T38511974G	RYR1	NM_000540.2(RYR1):c.9173-98T>G	noncoding	Benign
19	38512051	C	T	C38512051T	RYR1	NM_000540.2(RYR1):c.9173-21C>T	noncoding	Benign
19	38512085	A	G	A38512085G	RYR1	NM_000540.3(RYR1):c.9186A>G:p.Pro3062=	coding	Benign
19	38512425	G	A	G38512425A	RYR1	NM_000540.2(RYR1):c.9414G>A:p.Pro3138=	coding	Benign/Likely_benign
19	38512513	C	T	C38512513T	RYR1	NM_000540.2(RYR1):c.9472+30C>T	noncoding	Benign
19	38515052	C	T	C38515052T	RYR1	NM_000540.2(RYR1):c.9499C>T:p.Arg3167Ter	coding	Pathogenic
19	38516074	C	T	C38516074T	RYR1	NM_000540.2(RYR1):c.9555-13C>T	noncoding	Benign
19	38517363	G	A	G38517363A	RYR1	NM_000540.3(RYR1):c.9690G>A:p.Leu3230=	coding	Benign
19	38517444	C	T	C38517444T	RYR1	NM_000540.2(RYR1):c.9771C>T:p.Ala3257=	coding	Benign/Likely_benign
19	38517520	C	T	C38517520T	RYR1	NM_000540.2(RYR1):c.9847C>T:p.Arg3283Ter	coding	Pathogenic
19	38517555	C	T	C38517555T	RYR1	NM_000540.2(RYR1):c.9882C>T:p.Ser3294=	coding	Benign/Likely_benign
19	38517651	C	A	C38517651A	RYR1	NM_000540.2(RYR1):c.9978C>A:p.Asn3326Lys	coding	Pathogenic
19	38518945	T	G	T38518945G	RYR1	NM_000540.2(RYR1):c.10019-269T>G	noncoding	Benign
19	38518961	C	T	C38518961T	RYR1	NM_000540.2(RYR1):c.10019-253C>T	noncoding	Benign
19	38519295	A	G	A38519295G	RYR1	NM_000540.2(RYR1):c.10100A>G:p.Lys3367Arg	coding	Pathogenic
19	38519368	G	A	G38519368A	RYR1	NM_000540.3(RYR1):c.10173G>A:p.Glu3391=	coding	Benign
19	38519383	C	T	C38519383T	RYR1	NM_000540.3(RYR1):c.10188C>T:p.Asp3396=	coding	Benign
19	38519413	C	T	C38519413T	RYR1	NM_000540.3(RYR1):c.10218C>T:p.Tyr3406=	coding	Benign
19	38519461	G	A	G38519461A	RYR1	NM_000540.2(RYR1):c.10259+7G>A	noncoding	Benign/Likely_benign
19	38519464	G	A	G38519464A	RYR1	NM_000540.2(RYR1):c.10259+10G>A	noncoding	Benign/Likely_benign
19	38523111	C	T	C38523111T	RYR1	NM_000540.2(RYR1):c.10343C>T:p.Ser3448Phe	coding	Pathogenic
19	38523116	G	A	G38523116A	RYR1	NM_000540.2(RYR1):c.10347+1G>A	coding	Pathogenic/Likely_pathogenic
19	38523211	C	G	C38523211G	RYR1	NM_000540.2(RYR1):c.10348-6C>G	noncoding	Pathogenic/Likely_pathogenic
19	38523866	C	T	C38523866T	RYR1	NM_000540.2(RYR1):c.10441-49C>T	noncoding	Benign
19	38523905	G	A	G38523905A	RYR1	NM_000540.3(RYR1):c.10441-10G>A	noncoding	Benign
19	38523927	C	T	C38523927T	RYR1	NM_000540.3(RYR1):c.10453C>T:p.Gln3485Ter	coding	Pathogenic
19	38525455	C	T	C38525455T	RYR1	NM_000540.2(RYR1):c.10579C>T:p.Pro3527Ser	coding	Pathogenic
19	38525496	C	G	C38525496G	RYR1	NM_000540.2(RYR1):c.10620C>G:p.Tyr3540Ter	coding	Pathogenic
19	38526738	T	C	T38526738C	RYR1	NM_000540.2(RYR1):c.10627-255T>C	noncoding	Benign
19	38526992	G	C	G38526992C	RYR1	NM_000540.2(RYR1):c.10627-1G>C	noncoding	Pathogenic/Likely_pathogenic
19	38527637	C	T	C38527637T	RYR1	NM_000540.3(RYR1):c.10687-10C>T	noncoding	Benign
19	38527640	C	T	C38527640T	RYR1	NM_000540.3(RYR1):c.10687-7C>T	noncoding	Benign/Likely_benign
19	38527707	G	C	G38527707C	RYR1	NM_000540.2(RYR1):c.10747G>C:p.Glu3583Gln	coding	Benign
19	38527759	C	G	C38527759G	RYR1	NM_000540.2(RYR1):c.10799C>G:p.Ser3600Ter	coding	Pathogenic
19	38527777	T	C	T38527777C	RYR1	NM_000540.2(RYR1):c.10817T>C:p.Leu3606Pro	coding	Pathogenic
19	38528320	C	A	C38528320A	RYR1	NM_000540.3(RYR1):c.10839C>A:p.Tyr3613Ter	coding	Pathogenic
19	38528457	G	A	G38528457A	RYR1	NM_000540.2(RYR1):c.10937+39G>A	noncoding	Benign/Likely_benign
19	38528582	A	G	A38528582G	RYR1	NM_000540.2(RYR1):c.10938-17A>G	noncoding	Benign/Likely_benign
19	38528602	C	G	C38528602G	RYR1	NM_000540.2(RYR1):c.10941C>G:p.His3647Gln	coding	Benign/Likely_benign
19	38528715	G	T	G38528715T	RYR1	NM_000540.2(RYR1):c.11034+20G>T	noncoding	Benign/Likely_benign
19	38529064	A	G	A38529064G	RYR1	NM_000540.2(RYR1):c.11141+7A>G	noncoding	Benign/Likely_benign
19	38529309	C	T	C38529309T	RYR1	NM_000540.2(RYR1):c.11141+252C>T	noncoding	Benign
19	38532744	G	A	G38532744A	RYR1	NM_000540.2(RYR1):c.11259+8G>A	noncoding	Benign
19	38534701	T	G	T38534701G	RYR1	NM_000540.2(RYR1):c.11260-19T>G	noncoding	Benign
19	38534726	C	G	C38534726G	RYR1	NM_000540.2(RYR1):c.11266C>G:p.Gln3756Glu	coding	Benign
19	38534774	C	T	C38534774T	RYR1	NM_000540.2(RYR1):c.11314C>T:p.Arg3772Trp	coding	Pathogenic/Likely_pathogenic
19	38535132	T	A	T38535132A	RYR1	NM_000540.2(RYR1):c.11360-9T>A	noncoding	Benign/Likely_benign
19	38536027	G	A	G38536027A	RYR1	NM_000540.3(RYR1):c.11547G>A:p.Gln3849=	coding	Benign/Likely_benign
19	38536071	G	T	G38536071T	RYR1	NM_000540.2(RYR1):c.11590+1G>T	coding	Pathogenic/Likely_pathogenic
19	38537896	G	A	G38537896A	RYR1	NM_000540.2(RYR1):c.11625G>A:p.Ala3875=	coding	Benign/Likely_benign
19	38537933	C	T	C38537933T	RYR1	NM_000540.2(RYR1):c.11662C>T:p.Gln3888Ter	coding	Pathogenic
19	38538119	T	C	T38538119C	RYR1	NM_000540.2(RYR1):c.11689+159T>C	noncoding	Benign
19	38538178	T	C	T38538178C	RYR1	NM_000540.2(RYR1):c.11689+218T>C	noncoding	Benign
19	38543411	T	A	T38543411A	RYR1	NM_000540.2(RYR1):c.11754T>A:p.Thr3918=	coding	Benign
19	38543682	G	A	G38543682A	RYR1	NM_000540.2(RYR1):c.11907+22G>A	noncoding	Benign
19	38543746	C	G	C38543746G	RYR1	NM_000540.2(RYR1):c.11908-25C>G	noncoding	Benign
19	38543748	C	T	C38543748T	RYR1	NM_000540.2(RYR1):c.11908-23C>T	noncoding	Benign
19	38543757	A	G	A38543757G	RYR1	NM_000540.2(RYR1):c.11908-14A>G	noncoding	Benign
19	38543792	C	T	C38543792T	RYR1	NM_000540.2(RYR1):c.11929C>T:p.Gln3977Ter	coding	Pathogenic/Likely_pathogenic
19	38543804	C	T	C38543804T	RYR1	NM_000540.2(RYR1):c.11941C>T:p.His3981Tyr	coding	Benign/Likely_benign
19	38543810	C	T	C38543810T	RYR1	NM_000540.2(RYR1):c.11947C>T:p.Arg3983Cys	coding	Pathogenic/Likely_pathogenic
19	38543821	C	G	C38543821G	RYR1	NM_000540.2(RYR1):c.11958C>G:p.Asp3986Glu	coding	Pathogenic/Likely_pathogenic
19	38543893	C	A	C38543893A	RYR1	NM_000540.2(RYR1):c.12012+18C>A	noncoding	Benign
19	38543894	T	C	T38543894C	RYR1	NM_000540.2(RYR1):c.12012+19T>C	noncoding	Benign
19	38546537	A	G	A38546537G	RYR1	NM_000540.2(RYR1):c.12094+11A>G	noncoding	Benign
19	38548104	G	C	G38548104C	RYR1	NM_000540.2(RYR1):c.12095-129G>C	noncoding	Benign
19	38561329	G	T	G38561329T	RYR1	NM_000540.2(RYR1):c.12499G>T:p.Glu4167Ter	coding	Pathogenic/Likely_pathogenic
19	38561442	G	A	G38561442A	RYR1	NM_000540.2(RYR1):c.12612G>A:p.Trp4204Ter	coding	Pathogenic
19	38561443	G	T	G38561443T	RYR1	NM_000540.2(RYR1):c.12613G>T:p.Glu4205Ter	coding	Pathogenic
19	38561468	C	T	C38561468T	RYR1	NM_000540.2(RYR1):c.12624+14C>T	noncoding	Benign
19	38564958	G	T	G38564958T	RYR1	NM_000540.2(RYR1):c.12625-1G>T	noncoding	Pathogenic
19	38565075	C	T	C38565075T	RYR1	NM_000540.2(RYR1):c.12741C>T:p.Ala4247=	coding	Benign/Likely_benign
19	38565181	G	A	G38565181A	RYR1	NM_000540.2(RYR1):c.12847G>A:p.Glu4283Lys	coding	Benign/Likely_benign
19	38565320	C	A	C38565320A	RYR1	NM_000540.2(RYR1):c.12986C>A:p.Ala4329Asp	coding	Pathogenic
19	38565324	C	T	C38565324T	RYR1	NM_000540.2(RYR1):c.12990C>T:p.Thr4330=	coding	Benign/Likely_benign
19	38565651	C	T	C38565651T	RYR1	NM_000540.3(RYR1):c.13317C>T:p.Ala4439=	coding	Benign/Likely_benign
19	38565772	G	A	G38565772A	RYR1	NM_000540.2(RYR1):c.13437+1G>A	coding	Pathogenic
19	38566937	G	A	G38566937A	RYR1	NM_000540.2(RYR1):c.13464G>A:p.Pro4488=	coding	Benign/Likely_benign
19	38566953	G	T	G38566953T	RYR1	NM_000540.2(RYR1):c.13480G>T:p.Glu4494Ter	coding	Pathogenic
19	38566971	G	T	G38566971T	RYR1	NM_000540.2(RYR1):c.13498G>T:p.Glu4500Ter	coding	Pathogenic
19	38566975	C	T	C38566975T	RYR1	NM_000540.2(RYR1):c.13502C>T:p.Pro4501Leu	coding	Benign/Likely_benign
19	38566976	G	A	G38566976A	RYR1	NM_000540.2(RYR1):c.13503G>A:p.Pro4501=	coding	Benign/Likely_benign
19	38567792	G	T	G38567792T	RYR1	NM_000540.2(RYR1):c.13534G>T:p.Glu4512Ter	coding	Pathogenic
19	38570597	T	C	T38570597C	RYR1	NM_000540.2(RYR1):c.13660-10T>C	noncoding	Benign/Likely_benign
19	38570618	C	G	C38570618G	RYR1	NM_000540.3(RYR1):c.13671C>G:p.Ser4557=	coding	Benign
19	38572163	T	A	T38572163A	RYR1	NM_000540.2(RYR1):c.13891T>A:p.Tyr4631Asn	coding	Pathogenic
19	38572164	A	C	A38572164C	RYR1	NM_000540.2(RYR1):c.13892A>C:p.Tyr4631Ser	coding	Pathogenic
19	38572172	G	A	G38572172A	RYR1	NM_000540.2(RYR1):c.13900G>A:p.Glu4634Lys	coding	Pathogenic
19	38572175	G	A	G38572175A	RYR1	NM_000540.2(RYR1):c.13903G>A:p.Glu4635Lys	coding	Pathogenic
19	38572181	A	G	A38572181G	RYR1	NM_000540.2(RYR1):c.13909A>G:p.Thr4637Ala	coding	Pathogenic/Likely_pathogenic
19	38572182	C	T	C38572182T	RYR1	NM_000540.2(RYR1):c.13910C>T:p.Thr4637Ile	coding	Pathogenic
19	38572185	G	A	G38572185A	RYR1	NM_000540.2(RYR1):c.13913G>A:p.Gly4638Asp	coding	Pathogenic/Likely_pathogenic
19	38572191	T	G	T38572191G	RYR1	NM_000540.2(RYR1):c.13919T>G:p.Met4640Arg	coding	Pathogenic/Likely_pathogenic
19	38572198	C	T	C38572198T	RYR1	NM_000540.2(RYR1):c.13926C>T:p.Pro4642=	coding	Benign/Likely_benign
19	38572224	A	C	A38572224C	RYR1	NM_000540.2(RYR1):c.13952A>C:p.His4651Pro	coding	Pathogenic
19	38573239	G	A	G38573239A	RYR1	NM_000540.2(RYR1):c.14061G>A:p.Leu4687=	coding	Benign/Likely_benign
19	38573288	C	T	C38573288T	RYR1	NM_000540.3(RYR1):c.14110C>T:p.Arg4704Ter	coding	Pathogenic
19	38573308	G	A	G38573308A	RYR1	NM_000540.2(RYR1):c.14129+1G>A	coding	Pathogenic
19	38575910	T	G	T38575910G	RYR1	NM_000540.2(RYR1):c.14130-9T>G	noncoding	Benign/Likely_benign
19	38575959	A	C	A38575959C	RYR1	NM_000540.2(RYR1):c.14170A>C:p.Lys4724Gln	coding	Pathogenic
19	38577916	A	G	A38577916G	RYR1	NM_000540.2(RYR1):c.14173-2A>G	noncoding	Pathogenic
19	38577954	C	T	C38577954T	RYR1	NM_000540.2(RYR1):c.14209C>T:p.Arg4737Trp	coding	Pathogenic
19	38577955	G	A	G38577955A	RYR1	NM_000540.2(RYR1):c.14210G>A:p.Arg4737Gln	coding	Pathogenic/Likely_pathogenic
19	38578001	A	C	A38578001C	RYR1	NM_000540.2(RYR1):c.14256A>C:p.Thr4752=	coding	Benign
19	38579980	A	T	A38579980T	RYR1	NM_000540.2(RYR1):c.14365-2A>T	noncoding	Pathogenic
19	38580057	C	T	C38580057T	RYR1	NM_000540.2(RYR1):c.14440C>T:p.Leu4814Phe	coding	Pathogenic
19	38580064	A	G	A38580064G	RYR1	NM_000540.3(RYR1):c.14447A>G:p.Asp4816Gly	coding	Pathogenic
19	38580090	C	T	C38580090T	RYR1	NM_000540.2(RYR1):c.14473C>T:p.Arg4825Cys	coding	Pathogenic
19	38580112	C	A	C38580112A	RYR1	NM_000540.2(RYR1):c.14495C>A:p.Thr4832Asn	coding	Pathogenic
19	38580369	G	A	G38580369A	RYR1	NM_000540.2(RYR1):c.14512-1G>A	noncoding	Pathogenic
19	38580395	C	T	C38580395T	RYR1	NM_000540.2(RYR1):c.14537C>T:p.Ala4846Val	coding	Pathogenic
19	38580410	T	C	T38580410C	RYR1	NM_000540.2(RYR1):c.14552T>C:p.Leu4851Pro	coding	Pathogenic
19	38580416	C	T	C38580416T	RYR1	NM_000540.2(RYR1):c.14558C>T:p.Thr4853Ile	coding	Pathogenic/Likely_pathogenic
19	38580428	T	C	T38580428C	RYR1	NM_000540.3(RYR1):c.14570T>C:p.Phe4857Ser	coding	Pathogenic
19	38580430	A	G	A38580430G	RYR1	NM_000540.2(RYR1):c.14572A>G:p.Asn4858Asp	coding	Pathogenic
19	38580439	C	T	C38580439T	RYR1	NM_000540.2(RYR1):c.14581C>T:p.Arg4861Cys	coding	Pathogenic
19	38580447	C	T	C38580447T	RYR1	NM_000540.2(RYR1):c.14589C>T:p.Phe4863=	coding	Benign/Likely_benign
19	38580449	A	G	A38580449G	RYR1	NM_000540.2(RYR1):c.14591A>G:p.Tyr4864Cys	coding	Pathogenic
19	38580458	G	A	G38580458A	RYR1	NM_000540.2(RYR1):c.14600G>A:p.Ser4867Asn	coding	Pathogenic/Likely_pathogenic
19	38583494	A	G	A38583494G	RYR1	NM_000540.2(RYR1):c.14647-1449A>G	noncoding	Pathogenic
19	38584907	G	A	G38584907A	RYR1	NM_000540.2(RYR1):c.14647-36G>A	noncoding	Benign
19	38584963	C	A	C38584963A	RYR1	NM_000540.2(RYR1):c.14667C>A:p.Tyr4889Ter	coding	Pathogenic
19	38584967	G	C	G38584967C	RYR1	NM_000540.2(RYR1):c.14671G>C:p.Gly4891Arg	coding	Pathogenic
19	38584973	C	T	C38584973T	RYR1	NM_000540.2(RYR1):c.14677C>T:p.Arg4893Trp	coding	Pathogenic
19	38584974	G	A	G38584974A	RYR1	NM_000540.2(RYR1):c.14678G>A:p.Arg4893Gln	coding	Pathogenic/Likely_pathogenic
19	38584974	G	C	G38584974C	RYR1	NM_000540.2(RYR1):c.14678G>C:p.Arg4893Pro	coding	Pathogenic
19	38584980	G	T	G38584980T	RYR1	NM_000540.2(RYR1):c.14684G>T:p.Gly4895Val	coding	Pathogenic
19	38584983	G	A	G38584983A	RYR1	NM_000540.2(RYR1):c.14687G>A:p.Gly4896Glu	coding	Pathogenic
19	38584986	G	T	G38584986T	RYR1	NM_000540.2(RYR1):c.14690G>T:p.Gly4897Val	coding	Pathogenic
19	38584992	G	A	G38584992A	RYR1	NM_000540.2(RYR1):c.14696G>A:p.Gly4899Glu	coding	Pathogenic
19	38585036	A	G	A38585036G	RYR1	NM_000540.2(RYR1):c.14740A>G:p.Arg4914Gly	coding	Pathogenic
19	38585037	G	C	G38585037C	RYR1	NM_000540.2(RYR1):c.14741G>C:p.Arg4914Thr	coding	Pathogenic
19	38585048	G	A	G38585048A	RYR1	NM_000540.3(RYR1):c.14752G>A:p.Asp4918Asn	coding	Pathogenic
19	38585055	C	A	C38585055A	RYR1	NM_000540.2(RYR1):c.14759C>A:p.Thr4920Asn	coding	Pathogenic
19	38585058	T	C	T38585058C	RYR1	NM_000540.2(RYR1):c.14762T>C:p.Phe4921Ser	coding	Pathogenic
19	38585952	G	A	G38585952A	RYR1	NM_000540.2(RYR1):c.14818G>A:p.Ala4940Thr	coding	Pathogenic/Likely_pathogenic
19	38585967	C	T	C38585967T	RYR1	NM_000540.2(RYR1):c.14833C>T:p.Arg4945Ter	coding	Pathogenic/Likely_pathogenic
19	38586140	C	T	C38586140T	RYR1	NM_000540.3(RYR1):c.14918C>T:p.Pro4973Leu	coding	Pathogenic/Likely_pathogenic
19	38586141	G	A	G38586141A	RYR1	NM_000540.2(RYR1):c.14919G>A:p.Pro4973=	coding	Benign
19	38586207	G	A	G38586207A	RYR1	NM_000540.2(RYR1):c.14969+16G>A	noncoding	Benign
19	38586223	G	C	G38586223C	RYR1	NM_000540.2(RYR1):c.14969+32G>C	noncoding	Benign
19	38586263	C	T	C38586263T	RYR1	NM_000540.2(RYR1):c.14969+72C>T	noncoding	Benign
19	38586613	G	T	G38586613T	RYR1	NM_000540.2(RYR1):c.15021+37G>T	noncoding	Benign
19	38700683	C	T	C38700683T	ACTN4	NM_004924.6(ACTN4):c.246C>T:p.Leu82=	coding	Benign
19	38701093	C	T	C38701093T	ACTN4	NM_004924.6(ACTN4):c.369C>T:p.Gly123=	coding	Benign
19	38704918	C	T	C38704918T	ACTN4	NM_004924.6(ACTN4):c.398-16C>T	noncoding	Benign
19	38706095	C	T	C38706095T	ACTN4	NM_004924.6(ACTN4):c.536C>T:p.Pro179Leu	coding	Benign
19	38706096	G	A	G38706096A	ACTN4	NM_004924.6(ACTN4):c.537G>A:p.Pro179=	coding	Benign
19	38706105	C	T	C38706105T	ACTN4	NM_004924.6(ACTN4):c.546C>T:p.Asn182=	coding	Benign
19	38708128	G	A	G38708128A	ACTN4	NM_004924.6(ACTN4):c.584G>A:p.Gly195Asp	coding	Pathogenic
19	38710261	C	T	C38710261T	ACTN4	NM_004924.6(ACTN4):c.738C>T:p.Ile246=	coding	Benign
19	38710286	A	G	A38710286G	ACTN4	NM_004924.6(ACTN4):c.763A>G:p.Lys255Glu	coding	Pathogenic
19	38710299	C	T	C38710299T	ACTN4	NM_004924.6(ACTN4):c.776C>T:p.Thr259Ile	coding	Pathogenic
19	38710307	T	C	T38710307C	ACTN4	NM_004924.6(ACTN4):c.784T>C:p.Ser262Pro	coding	Pathogenic
19	38714543	C	T	C38714543T	ACTN4	NM_004924.6(ACTN4):c.894C>T:p.Tyr298=	coding	Benign
19	38717102	G	A	G38717102A	ACTN4	NM_004924.6(ACTN4):c.929G>A:p.Arg310Gln	coding	Benign/Likely_benign
19	38717151	G	A	G38717151A	ACTN4	NM_004924.6(ACTN4):c.978G>A:p.Gln326=	coding	Benign
19	38718001	C	A	C38718001A	ACTN4	NM_004924.6(ACTN4):c.1218C>A:p.Arg406=	coding	Benign
19	38721587	G	A	G38721587A	ACTN4	NM_004924.6(ACTN4):c.1341G>A:p.Ser447=	coding	Benign
19	38721671	C	T	C38721671T	ACTN4	NM_004924.6(ACTN4):c.1425C>T:p.Ala475=	coding	Benign
19	38723686	C	T	C38723686T	ACTN4	NM_004924.6(ACTN4):c.1515C>T:p.Leu505=	coding	Benign
19	38723993	C	T	C38723993T	ACTN4	NM_004924.6(ACTN4):c.1608C>T:p.Arg536=	coding	Benign
19	38723996	G	A	G38723996A	ACTN4	NM_004924.6(ACTN4):c.1611G>A:p.Ala537=	coding	Benign
19	38724087	C	G	C38724087G	ACTN4	NM_004924.6(ACTN4):c.1692+10C>G	noncoding	Benign/Likely_benign
19	38724234	C	T	C38724234T	ACTN4	NM_004924.6(ACTN4):c.1770C>T:p.Ile590=	coding	Benign
19	38724457	C	T	C38724457T	ACTN4	NM_004924.6(ACTN4):c.1902C>T:p.Asp634=	coding	Benign
19	38724532	T	C	T38724532C	ACTN4	NM_004924.6(ACTN4):c.1977T>C:p.Asn659=	coding	Benign
19	38724553	G	A	G38724553A	ACTN4	NM_004924.6(ACTN4):c.1998G>A:p.Gln666=	coding	Benign
19	38725729	C	T	C38725729T	ACTN4	NM_004924.6(ACTN4):c.2016C>T:p.Ile672=	coding	Benign
19	38728008	C	T	C38728008T	ACTN4	NM_004924.6(ACTN4):c.2400C>T:p.Asp800=	coding	Benign
19	38728009	G	A	G38728009A	ACTN4	NM_004924.6(ACTN4):c.2401G>A:p.Val801Met	coding	Benign/Likely_benign
19	38729140	T	C	T38729140C	ACTN4	NM_004924.6(ACTN4):c.2563T>C:p.Leu855=	coding	Benign
19	38729348	G	A	G38729348A	ACTN4	NM_004924.6(ACTN4):c.2652G>A:p.Ala884=	coding	Benign
19	38729366	C	A	C38729366A	ACTN4	NM_004924.6(ACTN4):c.2670C>A:p.Asp890Glu	coding	Benign
19	38729375	C	T	C38729375T	ACTN4	NM_004924.6(ACTN4):c.2679C>T:p.Pro893=	coding	Benign
19	38731141	G	A	G38731141A	CAPN12	NM_144691.4(CAPN12):c.2040C>T:p.Phe680=	coding	Benign
19	38735523	G	A	G38735523A	CAPN12	NM_144691.4(CAPN12):c.1605C>T:p.Ser535=	coding	Benign
19	38737207	G	A	G38737207A	CAPN12	NM_144691.4(CAPN12):c.1311C>T:p.Arg437=	coding	Benign
19	38737249	C	T	C38737249T	CAPN12	NM_144691.4(CAPN12):c.1269G>A:p.Lys423=	coding	Benign
19	38737548	G	A	G38737548A	CAPN12	NM_144691.4(CAPN12):c.1056C>T:p.Gly352=	coding	Benign
19	38740224	G	A	G38740224A	CAPN12	NM_144691.4(CAPN12):c.561-5C>T	noncoding	Benign
19	38744034	G	A	G38744034A	CAPN12	NM_144691.4(CAPN12):c.132C>T:p.Ile44=	coding	Benign
19	38812518	G	A	G38812518A	LGALS4	NM_006149.4(LGALS4):c.47C>T:p.Thr16Met	coding	Benign
19	38815889	C	T	C38815889T	ECH1	NM_001398.3(ECH1):c.850G>A:p.Asp284Asn	coding	Benign
19	38816463	C	T	C38816463T	ECH1	NM_001398.3(ECH1):c.649G>A:p.Gly217Arg	coding	Benign
19	38817550	C	T	C38817550T	ECH1	NM_001398.3(ECH1):c.375G>A:p.Ser125=	coding	Benign
19	38831051	G	C	G38831051C	ECH1	NM_001398.3(ECH1):c.349+27C>G	noncoding	Benign
19	38831447	T	G	T38831447G	ECH1	NM_001398.3(ECH1):c.122A>C:p.Glu41Ala	coding	Benign
19	38831774	G	T	G38831774T	ECH1	NM_001398.3(ECH1):c.-2C>A	noncoding	Benign
19	38845640	C	G	C38845640G	HNRNPL	NM_001533.2(HNRNPL):c.710+10G>C	noncoding	Benign
19	38845928	C	T	C38845928T	HNRNPL	NM_001533.2(HNRNPL):c.549G>A:p.Gly183=	coding	Benign
19	38849885	G	T	G38849885T	HNRNPL	NM_001533.2(HNRNPL):c.82C>A:p.Arg28=	coding	Benign
19	38849924	G	T	G38849924T	HNRNPL	NM_001533.2(HNRNPL):c.43C>A:p.Arg15=	coding	Benign
19	38871637	C	T	C38871637T	RINL	NM_001195833.2(RINL):c.451+10G>A	noncoding	Benign
19	38879251	C	T	C38879251T	SIRT2	NM_012237.4(SIRT2):c.1074G>A:p.Ala358=	coding	Benign
19	38879295	G	T	G38879295T	SIRT2	NM_012237.4(SIRT2):c.1030C>A:p.Leu344Ile	coding	Benign
19	38883666	C	T	C38883666T	SIRT2	NM_012237.4(SIRT2):c.592G>A:p.Ala198Thr	coding	Benign
19	38889130	C	T	C38889130T	SIRT2	NM_012237.4(SIRT2):c.458G>A:p.Arg153His	coding	Benign
19	38893508	T	A	T38893508A	SIRT2	NM_012237.4(SIRT2):c.132A>T:p.Leu44Phe	coding	Benign
19	38915527	C	G	C38915527G	SARS2	NM_017827.4(SARS2):c.*79G>C	noncoding	Benign
19	38916270	C	T	C38916270T	SARS2	NM_017827.4(SARS2):c.1205G>A:p.Arg402His	coding	Pathogenic
19	38916306	T	C	T38916306C	SARS2	NM_017827.4(SARS2):c.1169A>G:p.Asp390Gly	coding	Pathogenic
19	38916553	A	C	A38916553C	SARS2	NM_017827.4(SARS2):c.1161-239T>G	noncoding	Benign
19	38917446	T	C	T38917446C	SARS2	NM_017827.4(SARS2):c.1160+278A>G	noncoding	Benign
19	38917720	A	G	A38917720G	SARS2	NM_017827.4(SARS2):c.1160+4T>C	noncoding	Benign
19	38917929	A	G	A38917929G	SARS2	NM_017827.4(SARS2):c.1042T>C:p.Phe348Leu	coding	Pathogenic
19	38918997	C	T	C38918997T	SARS2	NM_017827.4(SARS2):c.760-184G>A	noncoding	Benign
19	38919479	A	G	A38919479G	SARS2	NM_017827.4(SARS2):c.759+283T>C	noncoding	Benign
19	38919825	G	A	G38919825A	SARS2	NM_017827.4(SARS2):c.696C>T:p.Arg232=	coding	Benign/Likely_benign
19	38920346	C	G	C38920346G	SARS2	NM_017827.4(SARS2):c.590-197G>C	noncoding	Benign
19	38921391	C	T	C38921391T	SARS2	NM_001145901.2(SARS2):c.595+1G>A	noncoding	Pathogenic
19	38921405	G	A	G38921405A	SARS2	NM_017827.4(SARS2):c.576C>T:p.Val192=	coding	Benign
19	38921530	G	A	G38921530A	SARS2	NM_017827.4(SARS2):c.531C>T:p.Asp177=	coding	Benign
19	38922281	G	A	G38922281A	SARS2	NM_017827.4(SARS2):c.364-14C>T	noncoding	Benign
19	38922522	C	T	C38922522T	SARS2	NM_017827.4(SARS2):c.364-255G>A	noncoding	Benign
19	38926075	C	T	C38926075T	SARS2	NM_017827.4(SARS2):c.363+130G>A	noncoding	Benign
19	38926135	G	T	G38926135T	SARS2	NM_017827.4(SARS2):c.363+70C>A	noncoding	Benign
19	38926247	C	T	C38926247T	SARS2	NM_017827.4(SARS2):c.321G>A:p.Glu107=	coding	Benign
19	38926295	C	T	C38926295T	SARS2	NM_017827.4(SARS2):c.273G>A:p.Ser91=	coding	Benign
19	38930162	T	C	T38930162C	SARS2	NM_017827.4(SARS2):c.267+308A>G	noncoding	Benign
19	38930634	T	C	T38930634C	SARS2	NM_017827.4(SARS2):c.103A>G:p.Thr35Ala	coding	Benign
19	38930707	C	T	C38930707T	SARS2	NM_017827.4(SARS2):c.30G>A:p.Trp10Ter	coding	Pathogenic
19	38930748	A	G	A38930748G	SARS2	NM_017827.4(SARS2):c.-12T>C	noncoding	Benign
19	39178520	G	T	G39178520T	PAK4	NM_001014831.3(PAK4):c.1717G>T:p.Ala573Ser	coding	Benign
19	39243712	C	T	C39243712T	IFNL3	NM_172139.4(IFNL3):c.511G>A:p.Glu171Lys	coding	Benign
19	39243850	G	A	G39243850A	IFNL3	NM_172139.4(IFNL3):c.466C>T:p.His156Tyr	coding	Benign
19	39244094	T	C	T39244094C	IFNL3	NM_172139.4(IFNL3):c.322A>G:p.Thr108Ala	coding	Benign
19	39244133	C	G	C39244133G	IFNL3	NM_172139.4(IFNL3):c.283G>C:p.Glu95Gln	coding	Benign
19	39244460	C	T	C39244460T	IFNL3	NM_172139.4(IFNL3):c.215G>A:p.Arg72His	coding	Benign
19	39244909	C	G	C39244909G	IFNL3	NM_172139.4(IFNL3):c.59G>C:p.Gly20Ala	coding	Benign
19	39268684	T	C	T39268684C	IFNL2	NM_172138.2(IFNL2):c.18T>C:p.Thr6=	coding	Benign
19	39268695	C	T	C39268695T	IFNL2	NM_172138.2(IFNL2):c.29C>T:p.Thr10Met	coding	Benign
19	39269186	A	G	A39269186G	IFNL2	NM_172138.2(IFNL2):c.227A>G:p.His76Arg	coding	Benign
19	39269795	T	C	T39269795C	IFNL2	NM_172138.2(IFNL2):c.478T>C:p.Tyr160His	coding	Benign
19	39269998	G	A	G39269998A	IFNL2	NM_172138.2(IFNL2):c.588G>A:p.Gly196=	coding	Benign
19	39296503	A	G	A39296503G	IFNL1	NM_172140.2(IFNL1):c.82A>G:p.Thr28Ala	coding	Benign
19	39297975	C	T	C39297975T	IFNL1	NM_172140.2(IFNL1):c.261C>T:p.Arg87=	coding	Benign
19	39298008	G	A	G39298008A	IFNL1	NM_172140.2(IFNL1):c.294G>A:p.Thr98=	coding	Benign
19	39407827	C	T	C39407827T	ZFP36	NM_003407.5(ZFP36):c.109C>T:p.Pro37Ser	coding	Benign
19	39415020	C	G	C39415020G	PLEKHG2	NM_022835.3(PLEKHG2):c.138C>G:p.Pro46=	coding	Benign
19	39415022	G	A	G39415022A	PLEKHG2	NM_022835.3(PLEKHG2):c.140G>A:p.Arg47Gln	coding	Benign
19	39415363	G	A	G39415363A	PLEKHG2	NM_022835.3(PLEKHG2):c.403G>A:p.Gly135Ser	coding	Benign
19	39415400	C	T	C39415400T	PLEKHG2	NM_022835.3(PLEKHG2):c.440C>T:p.Thr147Met	coding	Benign
19	39416866	C	T	C39416866T	PLEKHG2	NM_022835.3(PLEKHG2):c.610C>T:p.Arg204Trp	coding	Pathogenic
19	39418970	C	A	C39418970A	PLEKHG2	NM_022835.3(PLEKHG2):c.1230C>A:p.Phe410Leu	coding	Benign
19	39420839	G	A	G39420839A	PLEKHG2	NM_022835.3(PLEKHG2):c.1386G>A:p.Gly462=	coding	Benign
19	39420992	G	A	G39420992A	PLEKHG2	NM_022835.3(PLEKHG2):c.1443G>A:p.Gln481=	coding	Benign
19	39422230	C	T	C39422230T	PLEKHG2	NM_022835.3(PLEKHG2):c.1619C>T:p.Thr540Ile	coding	Benign
19	39422761	C	T	C39422761T	PLEKHG2	NM_022835.3(PLEKHG2):c.1707C>T:p.Pro569=	coding	Benign
19	39423254	G	A	G39423254A	PLEKHG2	NM_022835.3(PLEKHG2):c.2200G>A:p.Glu734Lys	coding	Benign
19	39423388	G	A	G39423388A	PLEKHG2	NM_022835.3(PLEKHG2):c.2334G>A:p.Gln778=	coding	Benign
19	39423713	G	A	G39423713A	PLEKHG2	NM_022835.3(PLEKHG2):c.2600-20G>A	noncoding	Benign
19	39423802	C	T	C39423802T	PLEKHG2	NM_022835.3(PLEKHG2):c.2669C>T:p.Ser890Phe	coding	Benign
19	39423917	G	A	G39423917A	PLEKHG2	NM_022835.3(PLEKHG2):c.2784G>A:p.Pro928=	coding	Benign
19	39423998	G	T	G39423998T	PLEKHG2	NM_022835.3(PLEKHG2):c.2865G>T:p.Leu955Phe	coding	Benign
19	39424034	G	A	G39424034A	PLEKHG2	NM_022835.3(PLEKHG2):c.2901G>A:p.Pro967=	coding	Benign
19	39424766	C	G	C39424766G	PLEKHG2	NM_022835.3(PLEKHG2):c.3633C>G:p.Ala1211=	coding	Benign
19	39425010	C	T	C39425010T	PLEKHG2	NM_022835.3(PLEKHG2):c.3877C>T:p.Arg1293Trp	coding	Benign
19	39425206	T	C	T39425206C	PLEKHG2	NM_022835.3(PLEKHG2):c.4073T>C:p.Leu1358Ser	coding	Benign
19	39425236	A	G	A39425236G	PLEKHG2	NM_022835.3(PLEKHG2):c.4103A>G:p.Gln1368Arg	coding	Benign
19	39425264	G	A	G39425264A	PLEKHG2	NM_022835.3(PLEKHG2):c.4131G>A:p.Gln1377=	coding	Benign
19	39433345	G	A	G39433345A	RPS16	NM_001020.6(RPS16):c.369C>T:p.Asp123=	coding	Benign
19	39466693	A	C	A39466693C	SUPT5H	NM_001111020.3(SUPT5H):c.985A>C:p.Arg329=	coding	Benign
19	39473002	C	T	C39473002T	SUPT5H	NM_001111020.3(SUPT5H):c.2156-10C>T	noncoding	Benign
19	39474506	C	A	C39474506A	SUPT5H	NM_001111020.3(SUPT5H):c.2821-9C>A	noncoding	Benign
19	39480879	C	A	C39480879A	TIMM50	NM_001001563.5(TIMM50):c.26C>A:p.Ser9Ter	coding	Pathogenic
19	39480879	C	G	C39480879G	TIMM50	NM_001001563.5(TIMM50):c.26C>G:p.Ser9Trp	coding	Benign
19	39482885	G	C	G39482885C	TIMM50	NM_001001563.5(TIMM50):c.260G>C:p.Gly87Ala	coding	Pathogenic
19	39485570	C	T	C39485570T	TIMM50	NM_001001563.5(TIMM50):c.340C>T:p.Arg114Trp	coding	Pathogenic
19	39485761	C	T	C39485761T	TIMM50	NM_001001563.5(TIMM50):c.446C>T:p.Thr149Met	coding	Pathogenic
19	39486463	G	A	G39486463A	TIMM50	NM_001001563.5(TIMM50):c.664G>A:p.Ala222Thr	coding	Pathogenic
19	39488079	C	T	C39488079T	TIMM50	NM_001001563.5(TIMM50):c.715C>T:p.Arg239Trp	coding	Pathogenic
19	39488169	G	A	G39488169A	TIMM50	NM_001001563.5(TIMM50):c.805G>A:p.Gly269Ser	coding	Pathogenic
19	39498780	C	A	C39498780A	DLL3	NC_000019.10:g.39498780C>A	noncoding	Benign
19	39499282	C	A	C39499282A	DLL3	NM_203486.3(DLL3):c.160C>A:p.Leu54Ile	coding	Benign/Likely_benign
19	39500563	A	G	A39500563G	DLL3	NM_203486.3(DLL3):c.352-52A>G	noncoding	Benign
19	39500597	C	G	C39500597G	DLL3	NM_203486.3(DLL3):c.352-18C>G	noncoding	Benign
19	39500653	G	A	G39500653A	DLL3	NM_203486.3(DLL3):c.390G>A:p.Glu130=	coding	Benign/Likely_benign
19	39502775	C	T	C39502775T	DLL3	NM_203486.3(DLL3):c.410-40C>T	noncoding	Benign
19	39502830	T	A	T39502830A	DLL3	NM_203486.3(DLL3):c.425T>A:p.Leu142Gln	coding	Benign
19	39502920	T	G	T39502920G	DLL3;PLEKHG2	NM_203486.3(DLL3):c.515T>G:p.Phe172Cys	coding	Benign
19	39502948	T	C	T39502948C	DLL3	NM_203486.3(DLL3):c.543T>C:p.Pro181=	coding	Benign/Likely_benign
19	39502951	C	G	C39502951G	DLL3	NM_203486.3(DLL3):c.546C>G:p.Ala182=	coding	Benign
19	39503021	C	G	C39503021G	DLL3	NM_203486.3(DLL3):c.616C>G:p.Pro206Ala	coding	Benign/Likely_benign
19	39503026	C	A	C39503026A	DLL3	NM_016941.4(DLL3):c.621C>A:p.Cys207Ter	coding	Pathogenic
19	39504071	T	C	T39504071C	DLL3	NM_203486.3(DLL3):c.653T>C:p.Leu218Pro	coding	Benign
19	39504079	C	T	C39504079T	DLL3	NM_203486.3(DLL3):c.661C>T:p.Arg221Ter	coding	Pathogenic
19	39504092	G	A	G39504092A	DLL3	NM_203486.3(DLL3):c.674G>A:p.Ser225Asn	coding	Benign
19	39504130	C	T	C39504130T	DLL3	NM_203486.3(DLL3):c.712C>T:p.Arg238Ter	coding	Pathogenic
19	39505387	C	T	C39505387T	DLL3	NM_203486.3(DLL3):c.1029C>T:p.Pro343=	coding	Benign
19	39507088	C	T	C39507088T	DLL3	NM_203486.3(DLL3):c.1143C>T:p.Ala381=	coding	Benign
19	39507097	G	A	G39507097A	DLL3	NM_203486.3(DLL3):c.1152G>A:p.Ala384=	coding	Benign
19	39507099	G	A	G39507099A	DLL3	NM_203486.3(DLL3):c.1154G>A:p.Gly385Asp	coding	Pathogenic
19	39507252	G	A	G39507252A	DLL3	NM_203486.3(DLL3):c.1307G>A:p.Arg436His	coding	Benign/Likely_benign
19	39507333	G	T	G39507333T	DLL3	NM_203486.3(DLL3):c.1388G>T:p.Arg463Leu	coding	Benign/Likely_benign
19	39507492	G	T	G39507492T	DLL3	NM_203486.3(DLL3):c.1547G>T:p.Arg516Leu	coding	Benign
19	39507507	C	T	C39507507T	DLL3	NM_203486.3(DLL3):c.1562C>T:p.Ser521Phe	coding	Benign/Likely_benign
19	39507820	C	T	C39507820T	DLL3	NM_203486.3(DLL3):c.1674-10C>T	noncoding	Benign/Likely_benign
19	39508004	C	T	C39508004T	DLL3	NM_203486.3(DLL3):c.1758+90C>T	coding	Benign
19	39826084	G	A	G39826084A	DYRK1B	NM_004714.3(DYRK1B):c.1521C>T:p.Val507=	coding	Benign
19	39826796	G	A	G39826796A	DYRK1B	NM_004714.3(DYRK1B):c.1287C>T:p.Gly429=	coding	Benign
19	39828479	C	T	C39828479T	DYRK1B	NM_004714.3(DYRK1B):c.625G>A:p.Val209Ile	coding	Benign
19	39828592	G	A	G39828592A	DYRK1B	NM_004714.3(DYRK1B):c.521-9C>T	noncoding	Benign
19	39830443	G	A	G39830443A	DYRK1B	NM_004714.3(DYRK1B):c.304C>T:p.Arg102Cys	coding	Pathogenic
19	39830478	T	G	T39830478G	DYRK1B	NM_004714.3(DYRK1B):c.269A>C:p.His90Pro	coding	Pathogenic
19	39830764	A	G	A39830764G	DYRK1B	NM_004714.3(DYRK1B):c.83T>C:p.Leu28Pro	coding	Benign
19	39840759	G	A	G39840759A	FBL	NM_001436.4(FBL):c.39C>T:p.Gly13=	coding	Benign
19	40205303	G	A	G40205303A	MAP3K10	NM_002446.4(MAP3K10):c.1188+7G>A	noncoding	Benign
19	40235955	C	A	C40235955A	AKT2	NM_001626.6(AKT2):c.1110G>T:p.Pro370=	coding	Benign
19	40236272	C	T	C40236272T	AKT2	NM_001626.6(AKT2):c.945G>A:p.Glu315=	coding	Benign/Likely_benign
19	40237979	C	T	C40237979T	AKT2	NM_001626.6(AKT2):c.821G>A:p.Arg274His	coding	Pathogenic
19	40238947	G	A	G40238947A	AKT2	NM_001626.6(AKT2):c.666C>T:p.His222=	coding	Benign
19	40241929	G	A	G40241929A	AKT2	NM_001626.6(AKT2):c.573+9C>T	noncoding	Benign/Likely_benign
19	40255241	C	T	C40255241T	AKT2	NM_001626.6(AKT2):c.204G>A:p.Pro68=	coding	Benign
19	40257008	G	A	G40257008A	AKT2	NM_001626.6(AKT2):c.93C>T:p.Ser31=	coding	Benign
19	40257052	C	T	C40257052T	AKT2	NM_001626.6(AKT2):c.49G>A:p.Glu17Lys	coding	Pathogenic
19	40376651	C	T	C40376651T	PLD3	NM_012268.4(PLD3):c.1062C>T:p.Tyr354=	coding	Benign
19	40376681	C	T	C40376681T	PLD3	NM_012268.4(PLD3):c.1092C>T:p.Ile364=	coding	Benign
19	40380730	C	T	C40380730T	HIPK4	NM_144685.5(HIPK4):c.1261G>A:p.Gly421Ser	coding	Benign
19	40380773	A	C	A40380773C	HIPK4	NM_144685.5(HIPK4):c.1218T>G:p.Ser406Arg	coding	Benign
19	40380959	G	A	G40380959A	HIPK4	NM_144685.5(HIPK4):c.1032C>T:p.His344=	coding	Benign
19	40381080	G	A	G40381080A	HIPK4	NM_144685.5(HIPK4):c.911C>T:p.Thr304Ile	coding	Benign
19	40394308	C	G	C40394308G	PRX	NM_020956.2(PRX):c.*4249G>C	coding	Benign/Likely_benign
19	40394500	G	A	G40394500A	PRX	NM_020956.2(PRX):c.*4057C>T	coding	Benign/Likely_benign
19	40394506	C	T	C40394506T	PRX	NM_020956.2(PRX):c.*4051G>A	coding	Benign/Likely_benign
19	40394649	C	A	C40394649A	PRX	NM_020956.2(PRX):c.*3908G>T	coding	Pathogenic
19	40394650	G	A	G40394650A	PRX	NM_020956.2(PRX):c.*3907C>T	coding	Benign/Likely_benign
19	40394958	C	T	C40394958T	PRX	NM_020956.2(PRX):c.*3599G>A	coding	Benign
19	40394973	T	A	T40394973A	PLD3	NM_181882.3(PRX):c.3379A>T:p.Lys1127Ter	coding	Pathogenic
19	40395104	G	C	G40395104C	PRX	NM_020956.2(PRX):c.*3453C>G	coding	Benign
19	40395134	T	C	T40395134C	PRX	NM_020956.2(PRX):c.*3423A>G	coding	Benign
19	40395144	G	A	G40395144A	PRX	NM_020956.2(PRX):c.*3413C>T	coding	Pathogenic
19	40395495	G	A	G40395495A	PRX	NM_181882.3(PRX):c.2857C>T:p.Arg953Ter	coding	Pathogenic
19	40395577	G	A	G40395577A	PRX	NM_020956.2(PRX):c.*2980C>T	coding	Benign/Likely_benign
19	40395589	T	C	T40395589C	PRX	NM_020956.2(PRX):c.*2968A>G	coding	Benign
19	40395625	G	A	G40395625A	PRX	NM_020956.2(PRX):c.*2932C>T	coding	Benign
19	40395663	G	A	G40395663A	PRX	NM_020956.2(PRX):c.*2894C>T	coding	Pathogenic
19	40395697	A	G	A40395697G	PRX	NM_020956.2(PRX):c.*2860T>C	coding	Benign
19	40395707	A	G	A40395707G	PRX	NM_020956.2(PRX):c.*2850T>C	coding	Benign
19	40395883	C	T	C40395883T	PRX	NM_020956.2(PRX):c.*2674G>A	coding	Benign
19	40396207	A	T	A40396207T	PRX	NM_020956.2(PRX):c.*2350T>A	coding	Pathogenic
19	40396251	C	T	C40396251T	PRX	NM_020956.2(PRX):c.*2306G>A	coding	Benign/Likely_benign
19	40396309	G	A	G40396309A	PRX	NM_020956.2(PRX):c.*2248C>T	coding	Benign/Likely_benign
19	40396335	T	C	T40396335C	PRX	NM_020956.2(PRX):c.*2222A>G	coding	Benign
19	40396388	G	A	G40396388A	PRX	NM_020956.2(PRX):c.*2169C>T	coding	Benign/Likely_benign
19	40396488	G	A	G40396488A	PRX	NM_020956.2(PRX):c.*2069C>T	coding	Pathogenic
19	40396516	G	A	G40396516A	PRX	NM_020956.2(PRX):c.*2041C>T	coding	Benign/Likely_benign
19	40396516	G	T	G40396516T	PRX	NM_181882.3(PRX):c.1836C>A:p.Ala612=	coding	Benign
19	40396727	C	T	C40396727T	PRX	NM_020956.2(PRX):c.*1830G>A	coding	Benign/Likely_benign
19	40396813	C	T	C40396813T	PRX	NM_181882.3(PRX):c.1539G>A:p.Pro513=	coding	Benign
19	40396869	C	G	C40396869G	PRX	NM_020956.2(PRX):c.*1688G>C	coding	Benign
19	40396962	G	A	G40396962A	PRX	NM_020956.2(PRX):c.*1595C>T	coding	Pathogenic
19	40397071	G	A	G40397071A	PRX	NM_020956.2(PRX):c.*1486C>T	coding	Benign/Likely_benign
19	40397178	G	A	G40397178A	PRX	NM_020956.2(PRX):c.*1379C>T	coding	Pathogenic
19	40397250	G	A	G40397250A	PRX	NM_020956.2(PRX):c.*1307C>T	coding	Pathogenic
19	40397262	G	A	G40397262A	PRX	NM_020956.2(PRX):c.*1295C>T	coding	Pathogenic
19	40397301	G	A	G40397301A	PRX	NM_020956.2(PRX):c.*1256C>T	coding	Benign
19	40397621	G	A	G40397621A	PRX	NM_020956.2(PRX):c.*936C>T	coding	Benign/Likely_benign
19	40397745	G	A	G40397745A	PRX	NM_181882.3(PRX):c.607C>T:p.Gln203Ter	coding	Pathogenic
19	40397766	G	A	G40397766A	PRX	NM_020956.2(PRX):c.*791C>T	coding	Pathogenic
19	40397798	C	T	C40397798T	PRX	NM_020956.2(PRX):c.*759G>A	coding	Benign/Likely_benign
19	40397859	G	A	G40397859A	PRX	NM_020956.2(PRX):c.*698C>T	coding	Benign/Likely_benign
19	40397881	C	T	C40397881T	PRX	NM_020956.2(PRX):c.*676G>A	coding	Benign
19	40398695	G	A	G40398695A	PRX	NM_020956.2(PRX):c.306C>T:p.Thr102=	coding	Benign
19	40398770	G	C	G40398770C	PRX	NM_020956.2(PRX):c.231C>G:p.Tyr77Ter	coding	Pathogenic
19	40398770	G	T	G40398770T	PRX	NM_181882.3(PRX):c.231C>A:p.Tyr77Ter	coding	Pathogenic
19	40403757	G	C	G40403757C	PRX	NM_020956.2(PRX):c.133C>G:p.Arg45Gly	coding	Benign/Likely_benign
19	40403914	C	T	C40403914T	PRX	NM_020956.2(PRX):c.28-52G>A	noncoding	Benign
19	40407632	C	T	C40407632T	PRX	NM_020956.2(PRX):c.27+274G>A	noncoding	Benign
19	40408591	C	T	C40408591T	PRX	NM_020956.2(PRX):c.-242-208G>A	noncoding	Benign
19	40458237	C	G	C40458237G	BLVRB	NM_000713.3(BLVRB):c.252G>C:p.Thr84=	coding	Benign
19	40490101	G	A	G40490101A	SPTBN4	NM_020971.3(SPTBN4):c.348G>A:p.Arg116=	coding	Benign
19	40503978	G	A	G40503978A	SPTBN4	NM_020971.3(SPTBN4):c.1511G>A:p.Arg504Gln	coding	Pathogenic
19	40504064	C	T	C40504064T	SPTBN4	NM_020971.3(SPTBN4):c.1597C>T:p.Gln533Ter	coding	Pathogenic
19	40504138	G	T	G40504138T	SPTBN4	NM_020971.3(SPTBN4):c.1665+6G>T	noncoding	Benign
19	40504140	C	G	C40504140G	SPTBN4	NM_020971.3(SPTBN4):c.1665+8C>G	noncoding	Benign
19	40506383	C	T	C40506383T	SPTBN4	NM_020971.3(SPTBN4):c.1813C>T:p.Gln605Ter	coding	Pathogenic
19	40512979	T	C	T40512979C	SPTBN4	NM_020971.3(SPTBN4):c.2190T>C:p.Gly730=	coding	Benign
19	40513004	G	A	G40513004A	SPTBN4	NM_020971.3(SPTBN4):c.2215G>A:p.Val739Met	coding	Benign
19	40513110	C	T	C40513110T	SPTBN4	NM_020971.3(SPTBN4):c.2321C>T:p.Ala774Val	coding	Benign
19	40515398	C	T	C40515398T	SPTBN4	NM_020971.3(SPTBN4):c.2853C>T:p.Gly951=	coding	Benign
19	40523492	C	A	C40523492A	SPTBN4	NM_020971.3(SPTBN4):c.3710C>A:p.Ala1237Asp	coding	Benign
19	40523602	G	T	G40523602T	SPTBN4	NM_020971.3(SPTBN4):c.3820G>T:p.Glu1274Ter	coding	Pathogenic
19	40557154	G	A	G40557154A	SPTBN4	NM_020971.3(SPTBN4):c.5421G>A:p.Glu1807=	coding	Benign
19	40566194	G	A	G40566194A	SPTBN4	NM_020971.3(SPTBN4):c.6171G>A:p.Ala2057=	coding	Benign
19	40570712	C	T	C40570712T	SPTBN4	NM_020971.3(SPTBN4):c.7303C>T:p.Arg2435Cys	coding	Pathogenic
19	40572011	C	T	C40572011T	SPTBN4	NM_020971.3(SPTBN4):c.7320-8C>T	noncoding	Benign
19	40572090	C	G	C40572090G	SPTBN4	NM_020971.3(SPTBN4):c.7391C>G:p.Ala2464Gly	coding	Benign
19	40572136	G	C	G40572136C	SPTBN4	NM_020971.3(SPTBN4):c.7437G>C:p.Lys2479Asn	coding	Benign
19	40592965	C	T	C40592965T	LTBP4	NM_003573.2(LTBP4):c.-201C>T	noncoding	Benign
19	40596970	C	T	C40596970T	LTBP4	NM_003573.2(LTBP4):c.17-2227C>T	noncoding	Benign
19	40597342	G	A	G40597342A	LTBP4	NM_001042544.1(LTBP4):c.108G>A:p.Gln36=	coding	Benign
19	40599405	C	T	C40599405T	LTBP4	NM_003573.2(LTBP4):c.79C>T:p.Leu27=	coding	Benign/Likely_benign
19	40599954	G	A	G40599954A	LTBP4	NM_003573.2(LTBP4):c.231-114G>A	noncoding	Benign
19	40601299	G	C	G40601299C	LTBP4	NM_003573.2(LTBP4):c.340+1122G>C	noncoding	Benign
19	40601302	A	C	A40601302C	LTBP4	NM_003573.2(LTBP4):c.340+1125A>C	noncoding	Benign
19	40601522	C	T	C40601522T	LTBP4	NM_001042545.2(LTBP4):c.135C>T:p.Cys45=	coding	Benign/Likely_benign
19	40601598	C	T	C40601598T	LTBP4	NM_001042545.2(LTBP4):c.211C>T:p.Pro71Ser	coding	Benign
19	40605163	G	A	G40605163A	LTBP4	NM_001042545.2(LTBP4):c.379G>A:p.Val127Ile	coding	Benign
19	40605768	T	G	T40605768G	LTBP4	NM_001042545.2(LTBP4):c.730T>G:p.Cys244Gly	coding	Pathogenic
19	40606297	G	A	G40606297A	LTBP4	NM_001042545.2(LTBP4):c.858G>A:p.Gly286=	coding	Benign
19	40606426	C	T	C40606426T	LTBP4	NM_001042545.2(LTBP4):c.891C>T:p.Gly297=	coding	Benign/Likely_benign
19	40606641	G	C	G40606641C	LTBP4	NM_001042545.2(LTBP4):c.991+115G>C	noncoding	Benign
19	40607095	G	A	G40607095A	LTBP4	NM_001042545.2(LTBP4):c.992-270G>A	noncoding	Benign
19	40607498	G	A	G40607498A	LTBP4	NM_001042545.2(LTBP4):c.1125G>A:p.Arg375=	coding	Benign
19	40608301	G	A	G40608301A	LTBP4	NM_001042545.2(LTBP4):c.1238G>A:p.Gly413Asp	coding	Benign/Likely_benign
19	40608315	C	T	C40608315T	LTBP4	NM_001042545.2(LTBP4):c.1252C>T:p.Arg418Ter	coding	Pathogenic
19	40608363	T	A	T40608363A	LTBP4	NM_001042545.2(LTBP4):c.1300T>A:p.Ser434Thr	coding	Benign
19	40609544	A	G	A40609544G	LTBP4	NM_001042545.2(LTBP4):c.1441A>G:p.Met481Val	coding	Benign/Likely_benign
19	40609594	G	T	G40609594T	LTBP4	NM_001042545.2(LTBP4):c.1491G>T:p.Arg497=	coding	Benign/Likely_benign
19	40610125	C	T	C40610125T	LTBP4	NM_001042545.2(LTBP4):c.1684+254C>T	noncoding	Benign
19	40610260	C	G	C40610260G	LTBP4	NM_001042545.2(LTBP4):c.1685-272C>G	noncoding	Benign
19	40610549	C	G	C40610549G	LTBP4	NM_001042545.2(LTBP4):c.1702C>G:p.Arg568Gly	coding	Benign
19	40611169	C	T	C40611169T	LTBP4	NM_001042545.2(LTBP4):c.1828C>T:p.Gln610Ter	coding	Pathogenic
19	40611175	C	G	C40611175G	LTBP4	NM_001042545.2(LTBP4):c.1834C>G:p.Pro612Ala	coding	Benign
19	40611294	G	A	G40611294A	LTBP4	NM_001042545.2(LTBP4):c.1953G>A:p.Pro651=	coding	Benign
19	40611309	C	T	C40611309T	LTBP4	NM_001042545.2(LTBP4):c.1968C>T:p.Pro656=	coding	Benign
19	40611394	G	A	G40611394A	LTBP4	NM_001042545.2(LTBP4):c.2053G>A:p.Asp685Asn	coding	Benign
19	40611848	C	A	C40611848A	LTBP4	NM_003573.2(LTBP4):c.2144-11C>A	noncoding	Benign
19	40611963	A	G	A40611963G	LTBP4	NM_001042545.2(LTBP4):c.2158A>G:p.Thr720Ala	coding	Benign
19	40611980	C	T	C40611980T	LTBP4	NM_001042545.2(LTBP4):c.2175C>T:p.Cys725=	coding	Benign
19	40612131	C	T	C40612131T	LTBP4	NM_001042545.2(LTBP4):c.2238C>T:p.Pro746=	coding	Benign
19	40612150	A	G	A40612150G	LTBP4	NM_001042545.2(LTBP4):c.2257A>G:p.Thr753Ala	coding	Benign
19	40612201	A	G	A40612201G	LTBP4	NM_003573.2(LTBP4):c.2389+9A>G	noncoding	Benign/Likely_benign
19	40612801	G	C	G40612801C	LTBP4	NM_001042545.2(LTBP4):c.2300-264G>C	noncoding	Benign
19	40613423	G	A	G40613423A	LTBP4	NM_001042545.2(LTBP4):c.2451G>A:p.Glu817=	coding	Benign/Likely_benign
19	40613453	C	A	C40613453A	LTBP4	NM_001042545.2(LTBP4):c.2481C>A:p.Cys827Ter	coding	Pathogenic
19	40613923	C	T	C40613923T	LTBP4	NM_001042545.2(LTBP4):c.2565C>T:p.Asp855=	coding	Benign
19	40614452	C	T	C40614452T	LTBP4	NM_001042545.2(LTBP4):c.2812+6C>T	noncoding	Benign
19	40616590	A	G	A40616590G	LTBP4	NM_001042545.2(LTBP4):c.2813-299A>G	noncoding	Benign
19	40619026	C	T	C40619026T	LTBP4	NM_001042545.2(LTBP4):c.3071-321C>T	noncoding	Benign
19	40619405	C	T	C40619405T	LTBP4	NM_001042545.2(LTBP4):c.3129C>T:p.Val1043=	coding	Benign/Likely_benign
19	40622404	C	T	C40622404T	LTBP4	NM_001042545.2(LTBP4):c.3221C>T:p.Thr1074Met	coding	Benign
19	40622442	G	A	G40622442A	LTBP4	NM_001042545.2(LTBP4):c.3259G>A:p.Val1087Ile	coding	Benign/Likely_benign
19	40622510	G	A	G40622510A	LTBP4	NM_001042545.2(LTBP4):c.3327G>A:p.Val1109=	coding	Benign
19	40623937	C	T	C40623937T	LTBP4	NM_001042545.2(LTBP4):c.3687C>T:p.Asp1229=	coding	Benign
19	40627018	T	G	T40627018G	LTBP4	NM_003573.2(LTBP4):c.4119T>G:p.Tyr1373Ter	coding	Pathogenic
19	40627028	C	T	C40627028T	LTBP4	NM_001042545.2(LTBP4):c.4039C>T:p.Arg1347Ter	coding	Pathogenic
19	40627197	G	A	G40627197A	LTBP4	NM_001042545.2(LTBP4):c.4208G>A:p.Arg1403His	coding	Benign/Likely_benign
19	40627287	A	T	A40627287T	LTBP4	NM_001042545.2(LTBP4):c.4298A>T:p.Tyr1433Phe	coding	Benign/Likely_benign
19	40627363	C	T	C40627363T	LTBP4	NM_003573.2(LTBP4):c.4456+8C>T	noncoding	Benign
19	40627541	G	T	G40627541T	LTBP4	NM_001042545.2(LTBP4):c.4367-164G>T	noncoding	Benign
19	40627738	C	T	C40627738T	LTBP4	NM_001042545.2(LTBP4):c.4400C>T:p.Ala1467Val	coding	Benign
19	40627748	C	T	C40627748T	LTBP4	NM_001042545.2(LTBP4):c.4410C>T:p.Cys1470=	coding	Benign
19	40627965	T	C	T40627965C	LTBP4	NM_001042545.2(LTBP4):c.4519+108T>C	noncoding	Benign
19	40629378	G	C	G40629378C	LTBP4	NM_001042545.2(LTBP4):c.4520-18G>C	noncoding	Benign
19	40629570	G	A	G40629570A	LTBP4	NM_001042545.2(LTBP4):c.*20G>A	noncoding	Benign
19	40629636	C	T	C40629636T	LTBP4	NM_001042545.2(LTBP4):c.*86C>T	noncoding	Benign
19	40692025	A	G	A40692025G	COQ8B	NM_024876.4(COQ8B):c.*10T>C	noncoding	Benign
19	40692092	G	A	G40692092A	COQ8B	NM_024876.4(COQ8B):c.1578C>T:p.Asp526=	coding	Benign
19	40692223	C	A	C40692223A	COQ8B	NM_024876.4(COQ8B):c.1447G>T:p.Glu483Ter	coding	Pathogenic
19	40692240	C	T	C40692240T	COQ8B	NM_024876.4(COQ8B):c.1430G>A:p.Arg477Gln	coding	Pathogenic
19	40692305	A	G	A40692305G	COQ8B	NM_024876.4(COQ8B):c.1365T>C:p.Tyr455=	coding	Benign
19	40692323	G	A	G40692323A	COQ8B	NM_024876.4(COQ8B):c.1347C>T:p.Phe449=	coding	Benign/Likely_benign
19	40692577	T	C	T40692577C	COQ8B	NM_024876.4(COQ8B):c.1297-204A>G	noncoding	Benign
19	40693047	C	T	C40693047T	COQ8B	NM_024876.4(COQ8B):c.1210-10G>A	noncoding	Benign
19	40695992	G	A	G40695992A	COQ8B	NM_024876.4(COQ8B):c.1206C>T:p.Ile402=	coding	Benign/Likely_benign
19	40700091	G	A	G40700091A	COQ8B	NM_024876.4(COQ8B):c.1119C>T:p.Phe373=	coding	Benign
19	40700155	G	C	G40700155C	COQ8B	NM_024876.4(COQ8B):c.1055C>G:p.Thr352Arg	coding	Benign
19	40700302	C	T	C40700302T	COQ8B	NM_024876.4(COQ8B):c.1035+8G>A	noncoding	Benign
19	40700303	A	G	A40700303G	COQ8B	NM_024876.4(COQ8B):c.1035+7T>C	noncoding	Benign
19	40700318	G	A	G40700318A	COQ8B	NM_024876.4(COQ8B):c.1027C>T:p.Arg343Trp	coding	Pathogenic
19	40700387	G	A	G40700387A	COQ8B	NM_024876.4(COQ8B):c.958C>T:p.Arg320Trp	coding	Pathogenic
19	40702636	T	C	T40702636C	COQ8B	NM_024876.4(COQ8B):c.857A>G:p.Asp286Gly	coding	Pathogenic
19	40702899	G	A	G40702899A	COQ8B	NM_024876.4(COQ8B):c.800-206C>T	noncoding	Benign
19	40703272	C	T	C40703272T	COQ8B	NM_024876.4(COQ8B):c.799+269G>A	noncoding	Benign
19	40703572	C	T	C40703572T	COQ8B	NM_024876.4(COQ8B):c.768G>A:p.Ala256=	coding	Benign
19	40703630	G	C	G40703630C	COQ8B	NM_024876.4(COQ8B):c.718-8C>G	noncoding	Benign
19	40703769	C	T	C40703769T	COQ8B	NM_024876.4(COQ8B):c.663G>A:p.Gly221=	coding	Benign
19	40703784	G	A	G40703784A	COQ8B	NM_024876.4(COQ8B):c.648C>T:p.Ala216=	coding	Benign
19	40703835	G	A	G40703835A	COQ8B	NM_024876.4(COQ8B):c.597C>T:p.Leu199=	coding	Benign/Likely_benign
19	40705140	G	A	G40705140A	COQ8B	NM_024876.4(COQ8B):c.532C>T:p.Arg178Trp	coding	Pathogenic/Likely_pathogenic
19	40705151	T	C	T40705151C	COQ8B	NM_024876.4(COQ8B):c.521A>G:p.His174Arg	coding	Benign
19	40705171	G	T	G40705171T	COQ8B	NM_024876.4(COQ8B):c.501C>A:p.Phe167Leu	coding	Benign
19	40705434	C	T	C40705434T	COQ8B	NM_024876.4(COQ8B):c.381G>A:p.Gly127=	coding	Benign
19	40714124	G	A	G40714124A	COQ8B	NM_024876.4(COQ8B):c.232C>T:p.Arg78Cys	coding	Benign
19	40714293	C	T	C40714293T	COQ8B	NM_024876.4(COQ8B):c.207G>A:p.Lys69=	coding	Benign
19	40714313	G	A	G40714313A	COQ8B	NM_024876.4(COQ8B):c.187C>T:p.Arg63Trp	coding	Benign
19	40714532	C	T	C40714532T	COQ8B	NM_024876.4(COQ8B):c.101G>A:p.Trp34Ter	coding	Pathogenic
19	40714624	C	T	C40714624T	COQ8B	NM_024876.4(COQ8B):c.9G>A:p.Leu3=	coding	Benign
19	40759451	C	T	C40759451T	SNRPA	NM_004596.5(SNRPA):c.267C>T:p.Thr89=	coding	Benign
19	40800650	G	C	G40800650C	EGLN2	NM_080732.4(EGLN2):c.78G>C:p.Glu26Asp	coding	Benign
19	40800866	G	A	G40800866A	EGLN2	NM_080732.4(EGLN2):c.294G>A:p.Ala98=	coding	Benign
19	40800905	C	T	C40800905T	EGLN2	NM_080732.4(EGLN2):c.333C>T:p.Gly111=	coding	Benign
19	40807532	C	T	C40807532T	EGLN2	NM_080732.4(EGLN2):c.1149C>T:p.Ala383=	coding	Benign
19	40843841	A	G	A40843841G	CYP2A6	NM_000762.6(CYP2A6):c.1440T>C:p.Phe480=	coding	Benign
19	40844682	T	C	T40844682C	CYP2A6	NM_000762.6(CYP2A6):c.1252A>G:p.Asn418Asp	coding	Benign
19	40844695	G	A	G40844695A	CYP2A6	NM_000762.6(CYP2A6):c.1239C>T:p.Pro413=	coding	Benign
19	40850411	T	G	T40850411G	CYP2A6	NM_000762.6(CYP2A6):c.16A>C:p.Met6Leu	coding	Benign
19	40875742	A	C	A40875742C	CYP2A7	NM_000764.2(CYP2A7):c.1436T>G:p.Val479Gly	coding	Benign
19	40875866	T	A	T40875866A	CYP2A7	NM_000764.2(CYP2A7):c.1312A>T:p.Asn438Tyr	coding	Benign
19	40876639	G	A	G40876639A	CYP2A7	NM_000764.2(CYP2A7):c.1191C>T:p.Ser397=	coding	Benign
19	40877236	C	T	C40877236T	CYP2A7	NM_000764.2(CYP2A7):c.1115G>A:p.Arg372His	coding	Benign
19	40878797	T	C	T40878797C	CYP2A7	NM_000764.2(CYP2A7):c.794A>G:p.Gln265Arg	coding	Benign
19	40880515	A	C	A40880515C	CYP2A7	NM_000764.2(CYP2A7):c.457T>G:p.Ser153Ala	coding	Benign
19	40880575	C	G	C40880575G	CYP2A7	NM_000764.2(CYP2A7):c.397G>C:p.Ala133Pro	coding	Benign
19	40882202	G	C	G40882202C	CYP2A7	NM_000764.2(CYP2A7):c.9C>G:p.Ala3=	coding	Benign
19	41116576	G	C	G41116576C	CYP2F1	NM_000774.5(CYP2F1):c.293G>C:p.Arg98Pro	coding	Benign
19	41120339	C	G	C41120339G	CYP2F1	NM_000774.5(CYP2F1):c.335-8C>G	noncoding	Benign
19	41121496	G	C	G41121496C	CYP2F1	NM_000774.5(CYP2F1):c.523G>C:p.Val175Leu	coding	Benign
19	41121497	T	G	T41121497G	CYP2F1	NM_000774.5(CYP2F1):c.524T>G:p.Val175Gly	coding	Benign
19	41122109	G	C	G41122109C	CYP2F1	NM_000774.5(CYP2F1):c.798G>C:p.Gln266His	coding	Benign
19	41124864	C	T	C41124864T	CYP2F1	NM_000774.5(CYP2F1):c.1110C>T:p.Arg370=	coding	Benign
19	41125512	T	C	T41125512C	CYP2F1	NM_000774.5(CYP2F1):c.1172T>C:p.Leu391Pro	coding	Benign
19	41197858	G	A	G41197858A	CYP2S1	NM_030622.8(CYP2S1):c.423G>A:p.Gly141=	coding	Benign
19	41203532	C	T	C41203532T	CYP2S1	NM_030622.8(CYP2S1):c.1059C>T:p.Thr353=	coding	Benign
19	41221905	C	T	C41221905T	AXL	NM_021913.5(AXL):c.435C>T:p.Pro145=	coding	Benign
19	41231265	C	T	C41231265T	AXL	NM_021913.5(AXL):c.750C>T:p.Ser250=	coding	Benign
19	41237944	G	A	G41237944A	AXL	NM_021913.5(AXL):c.784G>A:p.Ala262Thr	coding	Benign
19	41238024	C	T	C41238024T	AXL	NM_021913.5(AXL):c.864C>T:p.Ser288=	coding	Benign
19	41238144	G	A	G41238144A	AXL	NM_021913.5(AXL):c.984G>A:p.Thr328=	coding	Benign
19	41242913	G	T	G41242913T	AXL	NM_021913.5(AXL):c.1343G>T:p.Trp448Leu	coding	Benign
19	41243607	C	T	C41243607T	AXL	NM_021913.5(AXL):c.1446-9C>T	noncoding	Benign
19	41252975	G	C	G41252975C	AXL	NM_021913.5(AXL):c.1926+8G>C	noncoding	Benign
19	41256578	A	T	A41256578T	AXL	NM_021913.5(AXL):c.2163A>T:p.Leu721=	coding	Benign
19	41259670	C	T	C41259670T	AXL	NM_021913.5(AXL):c.2451C>T:p.Asp817=	coding	Benign
19	41259712	T	C	T41259712C	AXL	NM_021913.5(AXL):c.2493T>C:p.Pro831=	coding	Benign
19	41259847	C	T	C41259847T	AXL	NM_021913.5(AXL):c.2628C>T:p.Pro876=	coding	Benign
19	41273979	C	T	C41273979T	HNRNPUL1	NM_007040.6(HNRNPUL1):c.573-3C>T	noncoding	Benign
19	41332132	C	G	C41332132G	TGFB1	NM_000660.7(TGFB1):c.1010G>C:p.Ser337Thr	coding	Benign
19	41332170	C	T	C41332170T	TGFB1	NM_000660.7(TGFB1):c.972G>A:p.Gly324=	coding	Benign
19	41332269	C	T	C41332269T	TGFB1	NM_000660.7(TGFB1):c.873G>A:p.Lys291=	coding	Benign
19	41332301	G	A	G41332301A	TGFB1	NM_000660.7(TGFB1):c.861-20C>T	noncoding	Benign
19	41341955	G	A	G41341955A	TGFB1	NM_000660.7(TGFB1):c.788C>T:p.Thr263Ile	coding	Benign
19	41342209	A	G	A41342209G	TGFB1	NM_000660.7(TGFB1):c.673T>C:p.Cys225Arg	coding	Pathogenic
19	41342215	A	C	A41342215C	TGFB1	NM_000660.7(TGFB1):c.667T>G:p.Cys223Gly	coding	Pathogenic
19	41342215	A	G	A41342215G	TGFB1	NM_000660.7(TGFB1):c.667T>C:p.Cys223Arg	coding	Pathogenic
19	41342215	A	T	A41342215T	TGFB1	NM_000660.7(TGFB1):c.667T>A:p.Cys223Ser	coding	Pathogenic
19	41342218	G	C	G41342218C	TGFB1	NM_000660.7(TGFB1):c.664C>G:p.His222Asp	coding	Pathogenic
19	41342229	C	T	C41342229T	TGFB1	NM_000660.7(TGFB1):c.653G>A:p.Arg218His	coding	Pathogenic
19	41342230	G	A	G41342230A	TGFB1	NM_000660.7(TGFB1):c.652C>T:p.Arg218Cys	coding	Pathogenic
19	41348306	C	T	C41348306T	TGFB1	NM_000660.7(TGFB1):c.505G>A:p.Glu169Lys	coding	Pathogenic
19	41348345	G	A	G41348345A	TGFB1	NM_000660.7(TGFB1):c.466C>T:p.Arg156Cys	coding	Pathogenic
19	41352685	C	T	C41352685T	TGFB1	NM_000660.7(TGFB1):c.355+5G>A	noncoding	Benign
19	41352697	G	A	G41352697A	TGFB1	NM_000660.7(TGFB1):c.348C>T:p.Thr116=	coding	Benign
19	41352804	A	G	A41352804G	TGFB1	NM_000660.7(TGFB1):c.241T>C:p.Tyr81His	coding	Pathogenic
19	41352971	C	G	C41352971G	TGFB1	NM_000660.7(TGFB1):c.74G>C:p.Arg25Pro	coding	Benign
19	41352990	G	A	G41352990A	TGFB1	NM_000660.7(TGFB1):c.55C>T:p.Leu19=	coding	Benign
19	41353016	G	A	G41353016A	TGFB1	NM_000660.7(TGFB1):c.29C>T:p.Pro10Leu	coding	Benign
19	41354391	A	G	A41354391G	TGFB1	NM_000660.6(TGFB1):c.-1347T>C	noncoding	Benign
19	41354682	C	T	C41354682T	B9D2	NM_030578.4(B9D2):c.*18G>A	noncoding	Benign
19	41354715	G	A	G41354715A	B9D2	NM_030578.4(B9D2):c.513C>T:p.Tyr171=	coding	Benign/Likely_benign
19	41354765	C	T	C41354765T	B9D2	NM_030578.4(B9D2):c.463G>A:p.Gly155Ser	coding	Pathogenic
19	41354927	T	G	T41354927G	B9D2	NM_030578.4(B9D2):c.301A>C:p.Ser101Arg	coding	Pathogenic
19	41355008	G	A	G41355008A	B9D2	NM_030578.4(B9D2):c.220C>T:p.Pro74Ser	coding	Pathogenic
19	41355029	G	C	G41355029C	B9D2	NM_030578.4(B9D2):c.215-16C>G	noncoding	Benign
19	41357916	G	A	G41357916A	B9D2	NM_030578.4(B9D2):c.195C>T:p.Phe65=	coding	Benign/Likely_benign
19	41357928	G	A	G41357928A	B9D2	NM_030578.4(B9D2):c.183C>T:p.Ile61=	coding	Benign
19	41358004	A	G	A41358004G	B9D2	NM_030578.4(B9D2):c.107T>C:p.Leu36Pro	coding	Pathogenic
19	41363426	G	A	G41363426A	B9D2	NM_030578.4(B9D2):c.88+6C>T	noncoding	Benign/Likely_benign
19	41363487	T	C	T41363487C	B9D2	NM_030578.4(B9D2):c.33A>G:p.Ile11Met	coding	Benign
19	41397516	A	T	A41397516T	BCKDHA	NC_000019.10:g.41397516A>T	noncoding	Benign
19	41397800	C	G	C41397800G	BCKDHA	NM_000709.3(BCKDHA):c.-28C>G	noncoding	Benign
19	41397842	C	T	C41397842T	BCKDHA	NM_000709.4(BCKDHA):c.15C>T:p.Ile5=	coding	Benign/Likely_benign
19	41397861	C	A	C41397861A	BCKDHA	NM_000709.4(BCKDHA):c.34C>A:p.Arg12=	coding	Benign
19	41398260	C	T	C41398260T	BCKDHA	NM_000709.4(BCKDHA):c.108+325C>T	noncoding	Benign
19	41410642	C	G	C41410642G	BCKDHA	NM_000709.4(BCKDHA):c.114C>G:p.Pro38=	coding	Benign
19	41410642	C	T	C41410642T	BCKDHA	NM_000709.4(BCKDHA):c.114C>T:p.Pro38=	coding	Benign
19	41410644	C	A	C41410644A	BCKDHA	NM_000709.4(BCKDHA):c.116C>A:p.Pro39His	coding	Benign/Likely_benign
19	41410817	G	A	G41410817A	BCKDHA	NM_000709.4(BCKDHA):c.288+1G>A	coding	Pathogenic/Likely_pathogenic
19	41410826	G	A	G41410826A	BCKDHA	NM_000709.4(BCKDHA):c.288+10G>A	noncoding	Benign/Likely_benign
19	41410966	T	C	T41410966C	BCKDHA	NM_000709.4(BCKDHA):c.332T>C:p.Leu111Pro	coding	Pathogenic
19	41411001	C	T	C41411001T	BCKDHA	NM_000709.4(BCKDHA):c.367C>T:p.Gln123Ter	coding	Pathogenic
19	41414039	A	C	A41414039C	BCKDHA	NM_000709.4(BCKDHA):c.376-10A>C	noncoding	Benign
19	41414041	A	C	A41414041C	BCKDHA	NM_000709.4(BCKDHA):c.376-8A>C	noncoding	Benign
19	41414045	C	T	C41414045T	BCKDHA	NM_000709.4(BCKDHA):c.376-4C>T	noncoding	Benign
19	41414125	C	T	C41414125T	BCKDHA	NM_000709.4(BCKDHA):c.452C>T:p.Thr151Met	coding	Benign/Likely_benign
19	41414143	A	C	A41414143C	BCKDHA	NM_000709.4(BCKDHA):c.470A>C:p.Gln157Pro	coding	Pathogenic
19	41414149	G	A	G41414149A	BCKDHA	NM_000709.4(BCKDHA):c.476G>A:p.Arg159Gln	coding	Pathogenic
19	41414162	G	A	G41414162A	BCKDHA	NM_000709.4(BCKDHA):c.484+5G>A	noncoding	Benign
19	41414306	T	C	T41414306C	BCKDHA	NM_000709.4(BCKDHA):c.484+149T>C	noncoding	Benign
19	41419282	C	T	C41419282T	BCKDHA	NM_000709.4(BCKDHA):c.632C>T:p.Thr211Met	coding	Pathogenic/Likely_pathogenic
19	41419289	C	T	C41419289T	BCKDHA	NM_000709.4(BCKDHA):c.639C>T:p.Ile213=	coding	Benign/Likely_benign
19	41422163	G	C	G41422163C	BCKDHA	NM_000709.4(BCKDHA):c.647-1G>C	noncoding	Pathogenic/Likely_pathogenic
19	41422165	G	T	G41422165T	BCKDHA	NM_000709.4(BCKDHA):c.648G>T:p.Ala216=	coding	Benign/Likely_benign
19	41422176	C	T	C41422176T	BCKDHA	NM_000709.4(BCKDHA):c.659C>T:p.Ala220Val	coding	Pathogenic/Likely_pathogenic
19	41422257	A	G	A41422257G	BCKDHA	NM_000709.4(BCKDHA):c.740A>G:p.His247Arg	coding	Pathogenic
19	41422291	C	A	C41422291A	BCKDHA	NM_000709.4(BCKDHA):c.774C>A:p.Cys258Ter	coding	Pathogenic
19	41422309	C	G	C41422309G	BCKDHA	NM_000709.4(BCKDHA):c.792C>G:p.Cys264Trp	coding	Pathogenic
19	41422357	C	T	C41422357T	BCKDHA	NM_000709.4(BCKDHA):c.840C>T:p.Arg280=	coding	Benign/Likely_benign
19	41422361	G	C	G41422361C	BCKDHA	NM_000709.4(BCKDHA):c.844G>C:p.Asp282His	coding	Pathogenic
19	41422370	G	C	G41422370C	BCKDHA	NM_000709.4(BCKDHA):c.853G>C:p.Ala285Pro	coding	Pathogenic/Likely_pathogenic
19	41422627	A	G	A41422627G	BCKDHA	NM_000709.4(BCKDHA):c.854-2A>G	noncoding	Pathogenic
19	41422634	C	T	C41422634T	BCKDHA	NM_000709.4(BCKDHA):c.859C>T:p.Arg287Ter	coding	Pathogenic
19	41422643	G	A	G41422643A	BCKDHA	NM_000709.4(BCKDHA):c.868G>A:p.Gly290Arg	coding	Pathogenic/Likely_pathogenic
19	41422680	A	C	A41422680C	BCKDHA	NM_000709.4(BCKDHA):c.905A>C:p.Asp302Ala	coding	Pathogenic
19	41422704	C	G	C41422704G	BCKDHA	NM_000709.4(BCKDHA):c.929C>G:p.Thr310Arg	coding	Pathogenic
19	41422715	C	T	C41422715T	BCKDHA	NM_000709.4(BCKDHA):c.940C>T:p.Arg314Ter	coding	Pathogenic
19	41422739	C	T	C41422739T	BCKDHA	NM_000709.4(BCKDHA):c.964C>T:p.Gln322Ter	coding	Pathogenic
19	41422747	C	T	C41422747T	BCKDHA	NM_000709.4(BCKDHA):c.972C>T:p.Phe324=	coding	Benign
19	41422750	C	T	C41422750T	BCKDHA	NM_000709.4(BCKDHA):c.975C>T:p.Leu325=	coding	Benign/Likely_benign
19	41422754	G	A	G41422754A	BCKDHA	NM_000709.4(BCKDHA):c.979G>A:p.Glu327Lys	coding	Pathogenic/Likely_pathogenic
19	41422779	C	T	C41422779T	BCKDHA	NM_000709.4(BCKDHA):c.995+9C>T	noncoding	Benign
19	41422796	C	T	C41422796T	BCKDHA	NM_000709.4(BCKDHA):c.995+26C>T	noncoding	Benign/Likely_benign
19	41422819	G	A	G41422819A	BCKDHA	NM_000709.4(BCKDHA):c.995+49G>A	noncoding	Benign/Likely_benign
19	41422992	G	A	G41422992A	BCKDHA	NM_000709.4(BCKDHA):c.996-6G>A	noncoding	Benign
19	41423038	C	T	C41423038T	BCKDHA	NM_000709.4(BCKDHA):c.1036C>T:p.Arg346Cys	coding	Pathogenic/Likely_pathogenic
19	41423063	G	A	G41423063A	BCKDHA	NM_000709.4(BCKDHA):c.1061G>A:p.Trp354Ter	coding	Pathogenic
19	41423071	C	T	C41423071T	BCKDHA	NM_000709.4(BCKDHA):c.1069C>T:p.Gln357Ter	coding	Pathogenic
19	41423346	T	C	T41423346C	BCKDHA	NM_000709.4(BCKDHA):c.1167+177T>C	noncoding	Benign
19	41424468	A	T	A41424468T	BCKDHA	NM_000709.4(BCKDHA):c.1198A>T:p.Lys400Ter	coding	Pathogenic/Likely_pathogenic
19	41424481	A	G	A41424481G	BCKDHA	NM_000709.4(BCKDHA):c.1211A>G:p.Asn404Ser	coding	Benign/Likely_benign
19	41424491	A	G	A41424491G	BCKDHA	NM_000709.4(BCKDHA):c.1221A>G:p.Leu407=	coding	Benign
19	41424496	T	G	T41424496G	BCKDHA	NM_000709.4(BCKDHA):c.1226T>G:p.Phe409Cys	coding	Pathogenic
19	41424504	G	A	G41424504A	BCKDHA	NM_000709.4(BCKDHA):c.1234G>A:p.Val412Met	coding	Pathogenic/Likely_pathogenic
19	41424530	C	T	C41424530T	BCKDHA	NM_000709.4(BCKDHA):c.1260C>T:p.Leu420=	coding	Benign
19	41424572	C	A	C41424572A	BCKDHA	NM_000709.4(BCKDHA):c.1302C>A:p.Tyr434Ter	coding	Pathogenic
19	41424582	T	A	T41424582A	BCKDHA	NM_000709.4(BCKDHA):c.1312T>A:p.Tyr438Asn	coding	Pathogenic/Likely_pathogenic
19	41424584	C	A	C41424584A	BCKDHA	NM_000709.4(BCKDHA):c.1314C>A:p.Tyr438Ter	coding	Pathogenic
19	41424625	C	T	C41424625T	BCKDHA	NM_000709.4(BCKDHA):c.*17C>T	noncoding	Benign/Likely_benign
19	41424676	G	A	G41424676A	BCKDHA	NM_000709.4(BCKDHA):c.*68G>A	noncoding	Benign
19	41424733	C	T	C41424733T	BCKDHA	NM_000709.4(BCKDHA):c.*125C>T	noncoding	Benign
19	41424917	A	G	A41424917G	BCKDHA	NM_000709.4(BCKDHA):c.*309A>G	noncoding	Benign
19	41425849	G	A	G41425849A	B3GNT8	NM_198540.2(B3GNT8):c.930C>T:p.Tyr310=	coding	Benign
19	41709768	G	T	G41709768T	CEACAM5	NM_004363.6(CEACAM5):c.153G>T:p.Val51=	coding	Benign
19	41709774	A	C	A41709774C	CEACAM5	NM_004363.6(CEACAM5):c.159A>C:p.Leu53=	coding	Benign
19	41709825	T	C	T41709825C	CEACAM5	NM_004363.6(CEACAM5):c.210T>C:p.Gly70=	coding	Benign
19	41709853	A	G	A41709853G	CEACAM5	NM_004363.6(CEACAM5):c.238A>G:p.Ile80Val	coding	Benign
19	41709863	T	C	T41709863C	CEACAM5	NM_004363.6(CEACAM5):c.248T>C:p.Val83Ala	coding	Benign
19	41709914	T	C	T41709914C	CEACAM5	NM_004363.6(CEACAM5):c.299T>C:p.Ile100Thr	coding	Benign
19	41709922	C	T	C41709922T	CEACAM5	NM_004363.6(CEACAM5):c.307C>T:p.Pro103Ser	coding	Benign
19	41709949	A	G	A41709949G	CEACAM5	NM_004363.6(CEACAM5):c.334A>G:p.Ile112Val	coding	Benign
19	41709953	T	C	T41709953C	CEACAM5	NM_004363.6(CEACAM5):c.338T>C:p.Ile113Thr	coding	Benign
19	41715065	C	T	C41715065T	CEACAM5	NM_004363.6(CEACAM5):c.519C>T:p.Asp173=	coding	Benign
19	41715848	C	T	C41715848T	CEACAM5	NM_004363.6(CEACAM5):c.902C>T:p.Ala301Val	coding	Benign
19	41717499	G	A	G41717499A	CEACAM5	NM_004363.6(CEACAM5):c.1003G>A:p.Val335Met	coding	Benign
19	41718340	A	G	A41718340G	CEACAM5	NM_004363.6(CEACAM5):c.1450A>G:p.Ser484Gly	coding	Benign
19	41720199	G	A	G41720199A	CEACAM5	NM_004363.6(CEACAM5):c.1762G>A:p.Asp588Asn	coding	Benign
19	41720929	G	A	G41720929A	CEACAM5	NM_004363.6(CEACAM5):c.1779G>A:p.Pro593=	coding	Benign
19	41721019	G	A	G41721019A	CEACAM5	NM_004363.6(CEACAM5):c.1869G>A:p.Pro623=	coding	Benign
19	41756789	G	A	G41756789A	CEACAM6	NM_002483.7(CEACAM6):c.254G>A:p.Gly85Glu	coding	Benign
19	41762045	C	T	C41762045T	CEACAM6	NM_002483.7(CEACAM6):c.780C>T:p.His260=	coding	Benign
19	41797753	A	C	A41797753C	CEACAM3	NM_001815.5(CEACAM3):c.229A>C:p.Ser77Arg	coding	Benign
19	41797757	T	A	T41797757A	CEACAM3	NM_001815.5(CEACAM3):c.233T>A:p.Leu78Gln	coding	Benign
19	41797772	T	C	T41797772C	CEACAM3	NM_001815.5(CEACAM3):c.248T>C:p.Val83Ala	coding	Benign
19	41797801	G	C	G41797801C	CEACAM3	NM_001815.5(CEACAM3):c.277G>C:p.Ala93Pro	coding	Benign
19	41797807	T	A	T41797807A	CEACAM3	NM_001815.5(CEACAM3):c.283T>A:p.Tyr95Asn	coding	Benign
19	41797833	C	A	C41797833A	CEACAM3	NM_001815.5(CEACAM3):c.309C>A:p.Thr103=	coding	Benign
19	41797922	A	G	A41797922G	CEACAM3	NM_001815.5(CEACAM3):c.398A>G:p.Glu133Gly	coding	Benign
19	41797929	T	C	T41797929C	CEACAM3	NM_001815.5(CEACAM3):c.405T>C:p.Thr135=	coding	Benign
19	41860002	A	C	A41860002C	RPS19	NM_001022.3(RPS19):c.-288A>C	noncoding	Benign
19	41860016	T	C	T41860016C	RPS19	NM_001022.3(RPS19):c.-274T>C	noncoding	Benign
19	41860056	G	A	G41860056A	RPS19	NM_001022.3(RPS19):c.-234G>A	noncoding	Benign
19	41860762	C	T	C41860762T	RPS19	NM_001022.4(RPS19):c.1-13C>T	noncoding	Benign
19	41860777	G	A	G41860777A	RPS19	NM_001022.4(RPS19):c.3G>A:p.Met1Ile	coding	Pathogenic
19	41860777	G	T	G41860777T	RPS19	NM_001022.4(RPS19):c.3G>T:p.Met1Ile	coding	Pathogenic
19	41860817	G	T	G41860817T	RPS19	NM_001022.4(RPS19):c.43G>T:p.Val15Phe	coding	Pathogenic
19	41860834	C	G	C41860834G	RPS19	NM_001022.4(RPS19):c.60C>G:p.Ala20=	coding	Benign
19	41861138	G	A	G41861138A	RPS19	NM_001022.4(RPS19):c.98G>A:p.Trp33Ter	coding	Pathogenic
19	41861139	G	A	G41861139A	RPS19	NM_001022.4(RPS19):c.99G>A:p.Trp33Ter	coding	Pathogenic
19	41869029	A	G	A41869029G	RPS19	NM_001022.4(RPS19):c.173-2A>G	noncoding	Pathogenic
19	41869042	C	T	C41869042T	RPS19	NM_001022.4(RPS19):c.184C>T:p.Arg62Trp	coding	Pathogenic
19	41869043	G	A	G41869043A	RPS19	NM_001022.4(RPS19):c.185G>A:p.Arg62Gln	coding	Pathogenic
19	41869108	A	T	A41869108T	RPS19	NM_001022.4(RPS19):c.250A>T:p.Arg84Ter	coding	Pathogenic
19	41869138	C	T	C41869138T	RPS19	NM_001022.4(RPS19):c.280C>T:p.Arg94Ter	coding	Pathogenic
19	41869232	G	C	G41869232C	RPS19	NM_001022.4(RPS19):c.356+18G>C	noncoding	Benign/Likely_benign
19	41869722	G	A	G41869722A	RPS19	NM_001022.4(RPS19):c.380G>A:p.Gly127Glu	coding	Pathogenic
19	41869748	G	T	G41869748T	RPS19	NM_001022.4(RPS19):c.406G>T:p.Gly136Ter	coding	Pathogenic
19	41869755	T	C	T41869755C	RPS19	NM_001022.4(RPS19):c.411+2T>C	noncoding	Pathogenic
19	41869759	G	C	G41869759C	RPS19	NM_001022.4(RPS19):c.411+6G>C	noncoding	Benign
19	41869765	G	A	G41869765A	RPS19	NM_001022.4(RPS19):c.411+12G>A	noncoding	Benign
19	41879108	G	A	G41879108A	CD79A	NM_001783.3(CD79A):c.198G>A:p.Trp66Ter	coding	Pathogenic
19	41879233	T	G	T41879233G	CD79A	NM_001783.4(CD79A):c.323T>G:p.Val108Gly	coding	Pathogenic
19	41879290	G	A	G41879290A	CD79A	NM_001783.4(CD79A):c.379+1G>A	coding	Pathogenic
19	41879533	A	G	A41879533G	CD79A	NM_001783.4(CD79A):c.380-2A>G	noncoding	Pathogenic
19	41894637	C	T	C41894637T	ARHGEF1	NM_004706.4(ARHGEF1):c.853C>T:p.Arg285Ter	coding	Pathogenic
19	41898444	C	T	C41898444T	ARHGEF1	NM_004706.4(ARHGEF1):c.1124C>T:p.Pro375Leu	coding	Benign
19	41902783	G	T	G41902783T	ARHGEF1	NM_004706.4(ARHGEF1):c.1624-1G>T	noncoding	Pathogenic
19	41966622	C	T	C41966622T	ATP1A3	NM_152296.5(ATP1A3):c.*315G>A	noncoding	Benign
19	41966690	G	A	G41966690A	ATP1A3	NM_152296.5(ATP1A3):c.*247C>T	noncoding	Benign
19	41966701	A	G	A41966701G	ATP1A3	NM_152296.5(ATP1A3):c.*236T>C	noncoding	Benign
19	41966831	A	G	A41966831G	ATP1A3	NM_152296.5(ATP1A3):c.*106T>C	noncoding	Benign
19	41966898	G	C	G41966898C	ATP1A3	NM_152296.5(ATP1A3):c.*39C>G	noncoding	Benign
19	41967286	G	A	G41967286A	ATP1A3	NM_152296.5(ATP1A3):c.2976C>T:p.Asp992=	coding	Benign
19	41967288	C	A	C41967288A	ATP1A3	NM_152296.5(ATP1A3):c.2974G>T:p.Asp992Tyr	coding	Pathogenic
19	41967719	G	T	G41967719T	ATP1A3	NM_152296.5(ATP1A3):c.2864C>A:p.Ala955Asp	coding	Pathogenic
19	41967743	C	T	C41967743T	ATP1A3	NM_152296.5(ATP1A3):c.2840G>A:p.Gly947Glu	coding	Pathogenic
19	41967744	C	A	C41967744A	ATP1A3	NM_152296.5(ATP1A3):c.2839G>T:p.Gly947Trp	coding	Pathogenic/Likely_pathogenic
19	41967744	C	G	C41967744G	ATP1A3	NM_152296.5(ATP1A3):c.2839G>C:p.Gly947Arg	coding	Pathogenic
19	41967744	C	T	C41967744T	ATP1A3	NM_152296.5(ATP1A3):c.2839G>A:p.Gly947Arg	coding	Pathogenic
19	41967745	G	A	G41967745A	ATP1A3	NM_152296.5(ATP1A3):c.2838C>T:p.Phe946=	coding	Benign/Likely_benign
19	41968798	G	A	G41968798A	ATP1A3	NM_152296.5(ATP1A3):c.2806C>T:p.Gln936Ter	coding	Pathogenic
19	41968823	G	C	G41968823C	ATP1A3	NM_152296.5(ATP1A3):c.2781C>G:p.Cys927Trp	coding	Pathogenic
19	41968824	C	A	C41968824A	ATP1A3	NM_152296.5(ATP1A3):c.2780G>T:p.Cys927Phe	coding	Pathogenic
19	41968824	C	T	C41968824T	ATP1A3	NM_152296.5(ATP1A3):c.2780G>A:p.Cys927Tyr	coding	Pathogenic
19	41968837	C	A	C41968837A	ATP1A3	NM_152296.5(ATP1A3):c.2767G>T:p.Asp923Tyr	coding	Pathogenic
19	41968837	C	T	C41968837T	ATP1A3	NM_152296.5(ATP1A3):c.2767G>A:p.Asp923Asn	coding	Pathogenic
19	41969489	C	T	C41969489T	ATP1A3	NM_152296.5(ATP1A3):c.2634G>A:p.Leu878=	coding	Benign
19	41969513	G	A	G41969513A	ATP1A3	NM_152296.5(ATP1A3):c.2610C>T:p.Pro870=	coding	Benign
19	41969523	C	T	C41969523T	ATP1A3	NM_152296.5(ATP1A3):c.2600G>A:p.Gly867Asp	coding	Pathogenic
19	41969564	G	A	G41969564A	ATP1A3	NM_152296.5(ATP1A3):c.2559C>T:p.Leu853=	coding	Benign
19	41970184	C	G	C41970184G	ATP1A3	NM_152296.5(ATP1A3):c.2542+1G>C	noncoding	Pathogenic
19	41970184	C	T	C41970184T	ATP1A3	NM_152296.5(ATP1A3):c.2542+1G>A	noncoding	Pathogenic
19	41970240	C	T	C41970240T	ATP1A3	NM_152296.5(ATP1A3):c.2487G>A:p.Pro829=	coding	Benign
19	41970275	C	T	C41970275T	ATP1A3	NM_152296.5(ATP1A3):c.2452G>A:p.Glu818Lys	coding	Pathogenic
19	41970284	C	T	C41970284T	ATP1A3	NM_152296.5(ATP1A3):c.2443G>A:p.Glu815Lys	coding	Pathogenic
19	41970296	A	G	A41970296G	ATP1A3	NM_152296.5(ATP1A3):c.2431T>C:p.Ser811Pro	coding	Pathogenic
19	41970298	A	C	A41970298C	ATP1A3	NM_152296.5(ATP1A3):c.2429T>G:p.Ile810Ser	coding	Pathogenic
19	41970299	T	A	T41970299A	ATP1A3	NM_152296.5(ATP1A3):c.2428A>T:p.Ile810Phe	coding	Pathogenic
19	41970315	G	A	G41970315A	ATP1A3	NM_152296.5(ATP1A3):c.2419-7C>T	noncoding	Benign
19	41970391	G	C	G41970391C	ATP1A3	NM_152296.5(ATP1A3):c.2415C>G:p.Asp805Glu	coding	Pathogenic
19	41970395	G	A	G41970395A	ATP1A3	NM_152296.5(ATP1A3):c.2411C>T:p.Thr804Ile	coding	Pathogenic
19	41970398	C	T	C41970398T	ATP1A3	NM_152296.5(ATP1A3):c.2408G>A:p.Gly803Asp	coding	Pathogenic
19	41970405	C	A	C41970405A	ATP1A3	NM_152296.5(ATP1A3):c.2401G>T:p.Asp801Tyr	coding	Pathogenic
19	41970405	C	T	C41970405T	ATP1A3	NM_152296.5(ATP1A3):c.2401G>A:p.Asp801Asn	coding	Pathogenic
19	41970439	C	T	C41970439T	ATP1A3	NM_152296.5(ATP1A3):c.2367G>A:p.Pro789=	coding	Benign/Likely_benign
19	41970468	A	G	A41970468G	ATP1A3	NM_152296.5(ATP1A3):c.2338T>C:p.Phe780Leu	coding	Pathogenic
19	41970472	C	T	C41970472T	ATP1A3	NM_152296.5(ATP1A3):c.2334G>A:p.Thr778=	coding	Benign
19	41970487	A	G	A41970487G	ATP1A3	NM_152296.5(ATP1A3):c.2319T>C:p.Asn773=	coding	Benign
19	41970488	T	A	T41970488A	ATP1A3	NM_152296.5(ATP1A3):c.2318A>T:p.Asn773Ile	coding	Pathogenic
19	41970488	T	C	T41970488C	ATP1A3	NM_152296.5(ATP1A3):c.2318A>G:p.Asn773Ser	coding	Pathogenic
19	41970490	G	T	G41970490T	ATP1A3	NM_152296.5(ATP1A3):c.2316C>A:p.Ser772Arg	coding	Pathogenic
19	41970494	G	A	G41970494A	ATP1A3	NM_152296.5(ATP1A3):c.2312C>T:p.Thr771Ile	coding	Pathogenic
19	41970494	G	T	G41970494T	ATP1A3	NM_152296.5(ATP1A3):c.2312C>A:p.Thr771Asn	coding	Pathogenic
19	41970533	A	C	A41970533C	ATP1A3	NM_152296.5(ATP1A3):c.2273T>G:p.Ile758Ser	coding	Pathogenic
19	41970536	A	G	A41970536G	ATP1A3	NM_152296.5(ATP1A3):c.2270T>C:p.Leu757Pro	coding	Pathogenic
19	41970539	C	T	C41970539T	ATP1A3	NM_152296.5(ATP1A3):c.2267G>A:p.Arg756His	coding	Pathogenic/Likely_pathogenic
19	41970540	G	A	G41970540A	ATP1A3	NM_152296.5(ATP1A3):c.2266C>T:p.Arg756Cys	coding	Pathogenic/Likely_pathogenic
19	41970542	C	G	C41970542G	ATP1A3	NM_152296.5(ATP1A3):c.2264G>C:p.Gly755Ala	coding	Pathogenic
19	41975629	C	A	C41975629A	ATP1A3	NM_152296.5(ATP1A3):c.2263G>T:p.Gly755Cys	coding	Pathogenic
19	41975629	C	T	C41975629T	ATP1A3	NM_152296.5(ATP1A3):c.2263G>A:p.Gly755Ser	coding	Pathogenic
19	41975776	C	T	C41975776T	ATP1A3	NM_152296.5(ATP1A3):c.2116G>A:p.Gly706Arg	coding	Pathogenic
19	41975807	G	A	G41975807A	ATP1A3	NM_152296.5(ATP1A3):c.2095-10C>T	noncoding	Benign
19	41976459	G	A	G41976459A	ATP1A3	NM_152296.5(ATP1A3):c.2051C>T:p.Ser684Phe	coding	Pathogenic
19	41976536	G	A	G41976536A	ATP1A3	NM_152296.5(ATP1A3):c.1974C>T:p.Thr658=	coding	Benign
19	41977924	T	A	T41977924A	ATP1A3	NM_152296.5(ATP1A3):c.1943+12A>T	noncoding	Benign
19	41977974	G	A	G41977974A	ATP1A3	NM_152296.5(ATP1A3):c.1905C>T:p.Ala635=	coding	Benign/Likely_benign
19	41978041	G	A	G41978041A	ATP1A3	NM_152296.5(ATP1A3):c.1838C>T:p.Thr613Met	coding	Pathogenic
19	41978181	C	T	C41978181T	ATP1A3	NM_152296.5(ATP1A3):c.1776G>A:p.Ala592=	coding	Benign
19	41978262	G	A	G41978262A	ATP1A3	NM_152296.5(ATP1A3):c.1695C>T:p.Asp565=	coding	Benign/Likely_benign
19	41978631	G	A	G41978631A	ATP1A3	NM_152296.5(ATP1A3):c.1605C>T:p.Leu535=	coding	Benign
19	41978709	G	A	G41978709A	ATP1A3	NM_152296.5(ATP1A3):c.1527C>T:p.Ser509=	coding	Benign
19	41978736	G	A	G41978736A	ATP1A3	NM_152296.5(ATP1A3):c.1500C>T:p.Ala500=	coding	Benign/Likely_benign
19	41981743	C	T	C41981743T	ATP1A3	NM_152296.5(ATP1A3):c.1281G>A:p.Gln427=	coding	Benign
19	41981764	G	A	G41981764A	ATP1A3	NM_152296.5(ATP1A3):c.1260C>T:p.Arg420=	coding	Benign
19	41981774	A	G	A41981774G	ATP1A3	NM_152296.5(ATP1A3):c.1250T>C:p.Leu417Pro	coding	Pathogenic
19	41981835	G	C	G41981835C	ATP1A3	NM_152296.5(ATP1A3):c.1193-4C>G	noncoding	Benign
19	41981902	G	A	G41981902A	ATP1A3	NM_152296.5(ATP1A3):c.1192+6C>T	noncoding	Benign
19	41981956	A	G	A41981956G	ATP1A3	NM_152296.5(ATP1A3):c.1144T>C:p.Trp382Arg	coding	Pathogenic
19	41981966	G	A	G41981966A	ATP1A3	NM_152296.5(ATP1A3):c.1134C>T:p.Val378=	coding	Benign
19	41981969	T	C	T41981969C	ATP1A3	NM_152296.5(ATP1A3):c.1131A>G:p.Thr377=	coding	Benign/Likely_benign
19	41981988	A	G	A41981988G	ATP1A3	NM_152296.5(ATP1A3):c.1112T>C:p.Leu371Pro	coding	Pathogenic
19	41981991	G	T	G41981991T	ATP1A3	NM_152296.5(ATP1A3):c.1109C>A:p.Thr370Asn	coding	Pathogenic
19	41982014	G	A	G41982014A	ATP1A3	NM_152296.5(ATP1A3):c.1086C>T:p.Thr362=	coding	Benign
19	41982020	C	T	C41982020T	ATP1A3	NM_152296.5(ATP1A3):c.1080G>A:p.Thr360=	coding	Benign/Likely_benign
19	41982028	C	A	C41982028A	ATP1A3	NM_152296.5(ATP1A3):c.1072G>T:p.Gly358Cys	coding	Pathogenic
19	41982097	T	G	T41982097G	ATP1A3	NM_152296.5(ATP1A3):c.1003A>C:p.Thr335Pro	coding	Pathogenic
19	41982102	C	A	C41982102A	ATP1A3	NM_152296.5(ATP1A3):c.998G>T:p.Cys333Phe	coding	Pathogenic
19	41982109	G	C	G41982109C	ATP1A3	NM_152296.5(ATP1A3):c.994-3C>G	noncoding	Benign/Likely_benign
19	41982110	G	C	G41982110C	ATP1A3	NM_152296.5(ATP1A3):c.994-4C>G	noncoding	Benign/Likely_benign
19	41984944	G	A	G41984944A	ATP1A3	NM_152296.5(ATP1A3):c.967C>T:p.Pro323Ser	coding	Pathogenic
19	41984946	A	T	A41984946T	ATP1A3	NM_152296.5(ATP1A3):c.965T>A:p.Val322Asp	coding	Pathogenic
19	41984957	G	C	G41984957C	ATP1A3	NM_152296.5(ATP1A3):c.954C>G:p.Ile318Met	coding	Pathogenic
19	41984965	C	T	C41984965T	ATP1A3	NM_152296.5(ATP1A3):c.946G>A:p.Gly316Ser	coding	Pathogenic
19	41985002	G	A	G41985002A	ATP1A3	NM_152296.5(ATP1A3):c.909C>T:p.Leu303=	coding	Benign/Likely_benign
19	41985082	C	T	C41985082T	ATP1A3	NM_152296.5(ATP1A3):c.829G>A:p.Glu277Lys	coding	Pathogenic
19	41985090	A	G	A41985090G	ATP1A3	NM_152296.5(ATP1A3):c.821T>C:p.Ile274Thr	coding	Pathogenic
19	41985090	A	T	A41985090T	ATP1A3	NM_152296.5(ATP1A3):c.821T>A:p.Ile274Asn	coding	Pathogenic
19	41985095	C	T	C41985095T	ATP1A3	NM_152296.5(ATP1A3):c.816G>A:p.Thr272=	coding	Benign
19	41985170	C	G	C41985170G	ATP1A3	NM_152296.5(ATP1A3):c.741G>C:p.Val247=	coding	Benign
19	41985364	A	C	A41985364C	ATP1A3	NM_152296.5(ATP1A3):c.666T>G:p.Thr222=	coding	Benign/Likely_benign
19	41986168	T	A	T41986168A	ATP1A3	NM_152296.5(ATP1A3):c.419A>T:p.Gln140Leu	coding	Pathogenic
19	41986177	G	A	G41986177A	ATP1A3	NM_152296.5(ATP1A3):c.410C>T:p.Ser137Phe	coding	Pathogenic
19	41986177	G	T	G41986177T	ATP1A3	NM_152296.5(ATP1A3):c.410C>A:p.Ser137Tyr	coding	Pathogenic
19	41986202	C	T	C41986202T	ATP1A3	NM_152296.5(ATP1A3):c.385G>A:p.Val129Met	coding	Pathogenic
19	41986224	G	A	G41986224A	ATP1A3	NM_152296.5(ATP1A3):c.363C>T:p.Tyr121=	coding	Benign
19	41987936	G	A	G41987936A	ATP1A3	NM_152296.5(ATP1A3):c.357C>T:p.Asn119=	coding	Benign/Likely_benign
19	41988005	G	A	G41988005A	ATP1A3	NM_152296.5(ATP1A3):c.288C>T:p.Ile96=	coding	Benign
19	41988086	T	A	T41988086A	ATP1A3	NM_152296.5(ATP1A3):c.207A>T:p.Ala69=	coding	Benign
19	41988101	C	T	C41988101T	ATP1A3	NM_152296.5(ATP1A3):c.192G>A:p.Arg64=	coding	Benign
19	41988144	G	C	G41988144C	ATP1A3	NM_152296.5(ATP1A3):c.154-5C>G	noncoding	Benign
19	41988324	A	G	A41988324G	ATP1A3	NM_152296.5(ATP1A3):c.147T>C:p.Cys49=	coding	Benign
19	42003351	C	A	C42003351A	GRIK5	NM_001301030.1(GRIK5):c.2495G>T:p.Arg832Met	coding	Benign
19	42005910	G	A	G42005910A	GRIK5	NM_001301030.1(GRIK5):c.2076C>T:p.Tyr692=	coding	Benign
19	42224904	G	A	G42224904A	ZNF526	NM_133444.3(ZNF526):c.501G>A:p.Thr167=	coding	Benign
19	42224969	C	T	C42224969T	ZNF526	NM_133444.3(ZNF526):c.566C>T:p.Pro189Leu	coding	Benign
19	42225988	C	T	C42225988T	ZNF526	NM_133444.3(ZNF526):c.1585C>T:p.Gln529Ter	coding	Benign
19	42226052	A	C	A42226052C	ZNF526	NM_133444.3(ZNF526):c.1649A>C:p.His550Pro	coding	Benign
19	42226065	C	T	C42226065T	ZNF526	NM_133444.3(ZNF526):c.1662C>T:p.Val554=	coding	Benign
19	42232623	G	A	G42232623A	GSK3A	NM_019884.3(GSK3A):c.1158C>T:p.Tyr386=	coding	Benign
19	42248498	C	T	C42248498T	ERF	NM_006494.4(ERF):c.1614G>A:p.Thr538=	coding	Benign
19	42248585	C	G	C42248585G	ERF	NM_006494.4(ERF):c.1527G>C:p.Glu509Asp	coding	Benign
19	42248842	G	A	G42248842A	ERF	NM_006494.4(ERF):c.1270C>T:p.Gln424Ter	coding	Pathogenic
19	42248868	G	A	G42248868A	ERF	NM_006494.4(ERF):c.1244C>T:p.Ala415Val	coding	Benign
19	42248920	C	T	C42248920T	ERF	NM_006494.4(ERF):c.1192G>A:p.Gly398Ser	coding	Benign
19	42249008	A	G	A42249008G	ERF	NM_006494.4(ERF):c.1104T>C:p.Ser368=	coding	Benign
19	42249066	G	A	G42249066A	ERF	NM_006494.4(ERF):c.1046C>T:p.Pro349Leu	coding	Benign
19	42249272	C	T	C42249272T	ERF	NM_006494.4(ERF):c.840G>A:p.Ser280=	coding	Benign
19	42249415	G	A	G42249415A	ERF	NM_006494.4(ERF):c.697C>T:p.Arg233Ter	coding	Pathogenic
19	42249439	G	A	G42249439A	ERF	NM_006494.4(ERF):c.673C>T:p.Leu225=	coding	Benign
19	42249493	G	A	G42249493A	ERF	NM_006494.4(ERF):c.619C>T:p.Arg207Ter	coding	Pathogenic
19	42249565	G	A	G42249565A	ERF	NM_006494.4(ERF):c.547C>T:p.Arg183Ter	coding	Pathogenic
19	42249707	C	T	C42249707T	ERF	NM_006494.4(ERF):c.405G>A:p.Val135=	coding	Benign
19	42249934	T	C	T42249934C	ERF	NM_006494.4(ERF):c.266A>G:p.Tyr89Cys	coding	Pathogenic
19	42250332	G	A	G42250332A	ERF	NM_006494.4(ERF):c.256C>T:p.Arg86Cys	coding	Pathogenic
19	42250365	G	A	G42250365A	ERF	NM_006494.4(ERF):c.223C>T:p.Gln75Ter	coding	Pathogenic
19	42250394	C	T	C42250394T	ERF	NM_006494.4(ERF):c.194G>A:p.Arg65Gln	coding	Pathogenic
19	42250444	C	T	C42250444T	ERF	NM_006494.4(ERF):c.144G>A:p.Trp48Ter	coding	Pathogenic
19	42250564	C	T	C42250564T	ERF	NM_006494.4(ERF):c.24G>A:p.Gly8=	coding	Benign
19	42250567	T	C	T42250567C	ERF	NM_006494.4(ERF):c.23-2A>G	noncoding	Pathogenic
19	42254999	T	C	T42254999C	ERF	NM_006494.4(ERF):c.1A>G:p.Met1Val	coding	Pathogenic
19	42287310	C	T	C42287310T	CIC	NM_015125.4(CIC):c.453-10C>T	noncoding	Benign
19	42287353	G	T	G42287353T	CIC	NM_015125.4(CIC):c.486G>T:p.Leu162Phe	coding	Benign
19	42287821	C	T	C42287821T	CIC	NM_015125.4(CIC):c.777C>T:p.Ala259=	coding	Benign
19	42289013	C	T	C42289013T	CIC	NM_015125.4(CIC):c.1057C>T:p.Arg353Ter	coding	Pathogenic
19	42289252	A	G	A42289252G	CIC	NM_015125.4(CIC):c.1206A>G:p.Ala402=	coding	Benign
19	42289862	G	A	G42289862A	CIC	NM_015125.4(CIC):c.1375G>A:p.Gly459Ser	coding	Benign
19	42290242	C	T	C42290242T	CIC	NM_015125.4(CIC):c.1474C>T:p.Arg492Trp	coding	Pathogenic
19	42290367	C	T	C42290367T	CIC	NM_015125.4(CIC):c.1599C>T:p.Ser533=	coding	Benign
19	42291252	C	T	C42291252T	CIC	NM_015125.4(CIC):c.2484C>T:p.Ile828=	coding	Benign
19	42291640	C	T	C42291640T	CIC	NM_015125.4(CIC):c.2781C>T:p.Ala927=	coding	Benign
19	42292681	T	C	T42292681C	CIC	NM_015125.4(CIC):c.3291T>C:p.Ser1097=	coding	Benign
19	42292700	T	A	T42292700A	CIC	NM_015125.4(CIC):c.3310T>A:p.Ser1104Thr	coding	Benign
19	42292999	G	C	G42292999C	CIC	NM_015125.4(CIC):c.3513G>C:p.Arg1171=	coding	Benign
19	42293050	C	T	C42293050T	CIC	NM_015125.4(CIC):c.3564C>T:p.Pro1188=	coding	Benign
19	42293786	G	A	G42293786A	CIC	NM_015125.4(CIC):c.3990G>A:p.Lys1330=	coding	Benign
19	42293804	G	A	G42293804A	CIC	NM_015125.4(CIC):c.4008G>A:p.Pro1336=	coding	Benign
19	42293925	G	A	G42293925A	CIC	NM_015125.4(CIC):c.4041-10G>A	noncoding	Benign
19	42294816	A	G	A42294816G	CIC	NM_015125.4(CIC):c.4460-8A>G	noncoding	Benign
19	42295152	C	A	C42295152A	CIC	NM_015125.4(CIC):c.4788C>A:p.Pro1596=	coding	Benign
19	42334003	G	A	G42334003A	MEGF8	NM_001271938.2(MEGF8):c.352-4G>A	noncoding	Benign
19	42334012	G	A	G42334012A	MEGF8	NM_001271938.2(MEGF8):c.357G>A:p.Leu119=	coding	Benign
19	42334057	C	T	C42334057T	MEGF8	NM_001271938.2(MEGF8):c.402C>T:p.Asn134=	coding	Benign
19	42334150	G	C	G42334150C	MEGF8	NM_001271938.2(MEGF8):c.495G>C:p.Gly165=	coding	Benign
19	42336020	C	T	C42336020T	MEGF8	NM_001271938.2(MEGF8):c.918C>T:p.Asp306=	coding	Benign
19	42336299	C	T	C42336299T	MEGF8	NM_001271938.2(MEGF8):c.1197C>T:p.Pro399=	coding	Benign
19	42336904	C	T	C42336904T	MEGF8	NM_001271938.2(MEGF8):c.1342C>T:p.Arg448Ter	coding	Pathogenic
19	42344074	G	C	G42344074C	MEGF8	NM_001271938.2(MEGF8):c.1788+1G>C	coding	Pathogenic
19	42344554	C	T	C42344554T	MEGF8	NM_001271938.2(MEGF8):c.1902C>T:p.Cys634=	coding	Benign
19	42351492	C	T	C42351492T	MEGF8	NM_001271938.2(MEGF8):c.2919C>T:p.His973=	coding	Benign
19	42352925	C	T	C42352925T	MEGF8	NM_001271938.2(MEGF8):c.3351-3C>T	noncoding	Benign
19	42353010	C	T	C42353010T	MEGF8	NM_001271938.2(MEGF8):c.3433C>T:p.Leu1145=	coding	Benign
19	42354596	C	T	C42354596T	MEGF8	NM_001271938.2(MEGF8):c.4020C>T:p.Tyr1340=	coding	Benign
19	42355765	C	T	C42355765T	MEGF8	NM_001271938.2(MEGF8):c.4152C>T:p.Leu1384=	coding	Benign
19	42355972	C	T	C42355972T	MEGF8	NM_001271938.2(MEGF8):c.4359C>T:p.Cys1453=	coding	Benign
19	42356130	C	T	C42356130T	MEGF8	NM_001271938.2(MEGF8):c.4440C>T:p.Cys1480=	coding	Benign
19	42356848	G	A	G42356848A	MEGF8	NM_001271938.2(MEGF8):c.4697G>A:p.Arg1566His	coding	Pathogenic
19	42356864	C	T	C42356864T	MEGF8	NM_001271938.2(MEGF8):c.4713C>T:p.Ala1571=	coding	Benign
19	42356894	G	C	G42356894C	MEGF8	NM_001271938.2(MEGF8):c.4743G>C:p.Met1581Ile	coding	Benign
19	42356932	G	A	G42356932A	MEGF8	NM_001271938.2(MEGF8):c.4781G>A:p.Arg1594His	coding	Benign
19	42357415	C	T	C42357415T	MEGF8	NM_001271938.2(MEGF8):c.4842C>T:p.Thr1614=	coding	Benign
19	42358927	G	A	G42358927A	MEGF8	NM_001271938.2(MEGF8):c.5316G>A:p.Leu1772=	coding	Benign
19	42358931	G	C	G42358931C	MEGF8	NM_001271938.2(MEGF8):c.5320G>C:p.Glu1774Gln	coding	Benign
19	42359166	G	A	G42359166A	MEGF8	NM_001271938.2(MEGF8):c.5412G>A:p.Ser1804=	coding	Benign
19	42359229	G	A	G42359229A	MEGF8	NM_001271938.2(MEGF8):c.5475G>A:p.Leu1825=	coding	Benign
19	42360810	G	C	G42360810C	MEGF8	NM_001271938.2(MEGF8):c.5524G>C:p.Val1842Leu	coding	Benign
19	42360920	C	T	C42360920T	MEGF8	NM_001271938.2(MEGF8):c.5634C>T:p.Arg1878=	coding	Benign
19	42362080	T	C	T42362080C	MEGF8	NM_001271938.2(MEGF8):c.5721-10T>C	noncoding	Benign
19	42363073	G	A	G42363073A	MEGF8	NM_001271938.2(MEGF8):c.6084G>A:p.Val2028=	coding	Benign
19	42368937	G	A	G42368937A	MEGF8	NM_001271938.2(MEGF8):c.6576G>A:p.Thr2192=	coding	Benign
19	42369011	G	A	G42369011A	MEGF8	NM_001271938.2(MEGF8):c.6641+9G>A	noncoding	Benign
19	42370736	C	T	C42370736T	MEGF8	NM_001271938.2(MEGF8):c.7041C>T:p.Asp2347=	coding	Benign
19	42370748	C	T	C42370748T	MEGF8	NM_001271938.2(MEGF8):c.7053C>T:p.Cys2351=	coding	Benign
19	42370749	G	A	G42370749A	MEGF8	NM_001271938.2(MEGF8):c.7054G>A:p.Val2352Met	coding	Benign
19	42375537	A	G	A42375537G	MEGF8	NM_001271938.2(MEGF8):c.7300A>G:p.Ser2434Gly	coding	Pathogenic
19	42375968	C	T	C42375968T	MEGF8	NM_001271938.2(MEGF8):c.7731C>T:p.Tyr2577=	coding	Benign
19	42375974	G	A	G42375974A	MEGF8	NM_001271938.2(MEGF8):c.7737G>A:p.Thr2579=	coding	Benign
19	42376376	C	T	C42376376T	MEGF8	NM_001271938.2(MEGF8):c.8139C>T:p.Ser2713=	coding	Benign
19	42376574	C	T	C42376574T	MEGF8	NM_001271938.2(MEGF8):c.8337C>T:p.Gly2779=	coding	Benign
19	42376663	G	A	G42376663A	MEGF8	NM_001271938.2(MEGF8):c.8426G>A:p.Arg2809Lys	coding	Benign
19	42376703	C	A	C42376703A	MEGF8	NM_001271938.2(MEGF8):c.8466C>A:p.Gly2822=	coding	Benign
19	42376704	A	G	A42376704G	MEGF8	NM_001271938.2(MEGF8):c.8467A>G:p.Ser2823Gly	coding	Benign/Likely_benign
19	42401940	C	A	C42401940A	LIPE	NM_005357.4(LIPE):c.3103G>T:p.Glu1035Ter	coding	Pathogenic
19	42402762	G	T	G42402762T	LIPE	NM_005357.4(LIPE):c.2812C>A:p.Arg938Ser	coding	Benign
19	42402912	A	G	A42402912G	LIPE	NM_005357.4(LIPE):c.2662T>C:p.Ser888Pro	coding	Benign
19	42406264	C	T	C42406264T	LIPE	NM_005357.4(LIPE):c.2262G>A:p.Pro754=	coding	Benign
19	42406302	C	T	C42406302T	LIPE	NM_005357.4(LIPE):c.2224G>A:p.Gly742Arg	coding	Benign
19	42406303	G	A	G42406303A	LIPE	NM_005357.4(LIPE):c.2223C>T:p.Tyr741=	coding	Benign
19	42407406	C	T	C42407406T	LIPE	NM_005357.4(LIPE):c.1905G>A:p.Pro635=	coding	Benign
19	42408006	G	A	G42408006A	LIPE	NM_005357.4(LIPE):c.1626C>T:p.Phe542=	coding	Benign
19	42408077	C	T	C42408077T	LIPE	NM_005357.4(LIPE):c.1555G>A:p.Asp519Asn	coding	Benign
19	42408247	T	G	T42408247G	LIPE	NM_005357.4(LIPE):c.1495A>C:p.Asn499His	coding	Benign
19	42408251	T	A	T42408251A	LIPE	NM_005357.4(LIPE):c.1491A>T:p.Lys497Asn	coding	Benign
19	42410516	G	A	G42410516A	LIPE	NM_005357.4(LIPE):c.1210C>T:p.Arg404Cys	coding	Benign
19	42426628	T	C	T42426628C	LIPE	NM_005357.4(LIPE):c.522A>G:p.Glu174=	coding	Benign
19	42426714	G	A	G42426714A	LIPE	NM_005357.4(LIPE):c.436C>T:p.Pro146Ser	coding	Benign
19	42426855	G	A	G42426855A	LIPE	NM_005357.4(LIPE):c.295C>T:p.Pro99Ser	coding	Benign
19	42427033	C	T	C42427033T	LIPE	NM_005357.4(LIPE):c.117G>A:p.Ser39=	coding	Benign
19	42442779	G	A	G42442779A	CXCL17	NM_198477.3(CXCL17):c.54C>T:p.Ser18=	coding	Benign
19	42763909	C	G	C42763909G	PSG8	NM_182707.3(PSG8):c.430+7G>C	noncoding	Benign
19	42764001	T	C	T42764001C	PSG8	NM_182707.3(PSG8):c.345A>G:p.Glu115=	coding	Benign
19	43360267	T	G	T43360267G	CD177	NM_020406.4(CD177):c.622T>G:p.Phe208Val	coding	Benign
19	43362096	T	A	T43362096A	CD177	NM_020406.4(CD177):c.1090T>A:p.Ser364Thr	coding	Benign
19	43362103	A	G	A43362103G	CD177	NM_020406.4(CD177):c.1097A>G:p.Lys366Arg	coding	Benign
19	43461375	G	A	G43461375A	LYPD3	NM_014400.3(LYPD3):c.1017C>T:p.Ala339=	coding	Benign
19	43461652	G	T	G43461652T	LYPD3	NM_014400.3(LYPD3):c.740C>A:p.Thr247Lys	coding	Benign
19	43465515	C	T	C43465515T	LYPD3	NM_014400.3(LYPD3):c.57G>A:p.Leu19=	coding	Benign
19	43478061	G	A	G43478061A	PHLDB3	NM_198850.3(PHLDB3):c.1774C>T:p.Arg592Cys	coding	Benign
19	43494711	G	C	G43494711C	PHLDB3	NM_198850.3(PHLDB3):c.1140C>G:p.Ser380Arg	coding	Benign
19	43495251	C	T	C43495251T	PHLDB3	NM_198850.3(PHLDB3):c.1035+5G>A	noncoding	Benign
19	43495280	A	G	A43495280G	PHLDB3	NM_198850.3(PHLDB3):c.1011T>C:p.Ser337=	coding	Benign
19	43502190	C	T	C43502190T	PHLDB3	NM_198850.3(PHLDB3):c.307G>A:p.Gly103Arg	coding	Benign
19	43508784	C	T	C43508784T	ETHE1	NM_014297.5(ETHE1):c.586G>A:p.Asp196Asn	coding	Pathogenic/Likely_pathogenic
19	43508797	G	A	G43508797A	ETHE1	NM_014297.5(ETHE1):c.573C>T:p.Ile191=	coding	Benign/Likely_benign
19	43508816	A	C	A43508816C	ETHE1	NM_014297.5(ETHE1):c.554T>G:p.Leu185Arg	coding	Pathogenic
19	43509108	G	A	G43509108A	ETHE1	NM_014297.5(ETHE1):c.506-244C>T	noncoding	Benign
19	43511436	C	A	C43511436A	ETHE1	NM_014297.5(ETHE1):c.505+1G>T	noncoding	Pathogenic
19	43511436	C	G	C43511436G	ETHE1	NM_014297.5(ETHE1):c.505+1G>C	noncoding	Pathogenic
19	43511451	G	T	G43511451T	ETHE1	NM_014297.5(ETHE1):c.491C>A:p.Thr164Lys	coding	Pathogenic
19	43511454	C	T	C43511454T	ETHE1	NM_014297.5(ETHE1):c.488G>A:p.Arg163Gln	coding	Pathogenic
19	43511455	G	A	G43511455A	ETHE1	NM_014297.5(ETHE1):c.487C>T:p.Arg163Trp	coding	Pathogenic
19	43511455	G	C	G43511455C	ETHE1	NM_014297.5(ETHE1):c.487C>G:p.Arg163Gly	coding	Pathogenic
19	43511487	G	A	G43511487A	ETHE1	NM_014297.5(ETHE1):c.455C>T:p.Thr152Ile	coding	Pathogenic
19	43511536	T	C	T43511536C	ETHE1	NM_014297.5(ETHE1):c.406A>G:p.Thr136Ala	coding	Pathogenic
19	43511564	C	T	C43511564T	ETHE1	NM_014297.5(ETHE1):c.378G>A:p.Ala126=	coding	Benign
19	43526196	C	T	C43526196T	ETHE1	NM_014297.5(ETHE1):c.375+5G>A	noncoding	Pathogenic
19	43526281	G	A	G43526281A	ETHE1	NM_014297.5(ETHE1):c.295C>T:p.Gln99Ter	coding	Pathogenic
19	43526358	G	C	G43526358C	ETHE1	NM_014297.5(ETHE1):c.227-9C>G	noncoding	Benign/Likely_benign
19	43526554	G	A	G43526554A	ETHE1	NM_014297.5(ETHE1):c.187C>T:p.Gln63Ter	coding	Pathogenic
19	43526577	A	G	A43526577G	ETHE1	NM_014297.5(ETHE1):c.164T>C:p.Leu55Pro	coding	Pathogenic
19	43526628	T	C	T43526628C	ETHE1	NM_014297.5(ETHE1):c.113A>G:p.Tyr38Cys	coding	Pathogenic
19	43526846	C	T	C43526846T	ETHE1	NM_014297.5(ETHE1):c.82-187G>A	noncoding	Benign
19	43527099	G	A	G43527099A	ETHE1	NM_014297.5(ETHE1):c.79C>T:p.Gln27Ter	coding	Pathogenic
19	43527099	G	T	G43527099T	ETHE1	NM_014297.5(ETHE1):c.79C>A:p.Gln27Lys	coding	Pathogenic
19	43527117	C	A	C43527117A	ETHE1	NM_014297.5(ETHE1):c.61G>T:p.Ala21Ser	coding	Benign/Likely_benign
19	43527144	G	A	G43527144A	ETHE1	NM_014297.5(ETHE1):c.34C>T:p.Gln12Ter	coding	Pathogenic
19	43527172	C	T	C43527172T	ETHE1	NM_014297.5(ETHE1):c.6G>A:p.Ala2=	coding	Benign
19	43527175	C	A	C43527175A	ETHE1	NM_014297.5(ETHE1):c.3G>T:p.Met1Ile	coding	Pathogenic
19	43527218	C	T	C43527218T	ETHE1	NM_014297.4(ETHE1):c.-41G>A	noncoding	Benign
19	43546628	G	A	G43546628A	XRCC1	NM_006297.2(XRCC1):c.1393C>T:p.Gln465Ter	coding	Pathogenic
19	43546884	C	G	C43546884G	XRCC1	NM_006297.2(XRCC1):c.1293G>C:p.Lys431Asn	coding	Pathogenic
19	43551691	G	C	G43551691C	XRCC1	NM_006297.3(XRCC1):c.1083-4C>G	noncoding	Benign
19	43552121	C	A	C43552121A	XRCC1	NM_006297.3(XRCC1):c.978G>T:p.Val326=	coding	Benign
19	43552189	T	C	T43552189C	XRCC1	NM_006297.3(XRCC1):c.910A>G:p.Thr304Ala	coding	Benign
19	43552199	T	C	T43552199C	XRCC1	NM_006297.3(XRCC1):c.900A>G:p.Arg300=	coding	Benign
19	43552248	G	A	G43552248A	XRCC1	NM_006297.3(XRCC1):c.851C>T:p.Thr284Ile	coding	Benign
19	43553432	G	C	G43553432C	XRCC1	NM_006297.3(XRCC1):c.570C>G:p.Leu190=	coding	Benign
19	43553615	C	T	C43553615T	XRCC1	NM_006297.3(XRCC1):c.483G>A:p.Pro161=	coding	Benign
19	43553616	G	A	G43553616A	XRCC1	NM_006297.3(XRCC1):c.482C>T:p.Pro161Leu	coding	Benign
19	43560931	G	A	G43560931A	XRCC1	NM_006297.3(XRCC1):c.234C>T:p.Gly78=	coding	Benign
19	43560950	A	G	A43560950G	XRCC1	NM_006297.3(XRCC1):c.215T>C:p.Val72Ala	coding	Benign
19	43561015	C	T	C43561015T	XRCC1	NM_006297.3(XRCC1):c.150G>A:p.Glu50=	coding	Benign
19	43652235	G	A	G43652235A	PLAUR	NM_002659.4(PLAUR):c.744C>T:p.Thr248=	coding	Benign
19	43670097	C	T	C43670097T	PLAUR	NM_002659.4(PLAUR):c.24G>A:p.Pro8=	coding	Benign
19	43719119	G	A	G43719119A	IRGC	NM_019612.4(IRGC):c.561G>A:p.Glu187=	coding	Benign
19	43733373	C	T	C43733373T	SMG9	NM_019108.4(SMG9):c.1290G>A:p.Leu430=	coding	Benign
19	43733659	G	A	G43733659A	SMG9	NM_019108.4(SMG9):c.1177C>T:p.Gln393Ter	coding	Pathogenic
19	43733682	C	T	C43733682T	SMG9	NM_019108.4(SMG9):c.1154G>A:p.Arg385Gln	coding	Benign
19	43747437	G	A	G43747437A	SMG9	NM_019108.4(SMG9):c.588+5C>T	noncoding	Benign
19	43747769	G	C	G43747769C	SMG9	NM_019108.4(SMG9):c.354C>G:p.Thr118=	coding	Benign
19	43748044	G	A	G43748044A	SMG9	NM_019108.4(SMG9):c.159C>T:p.Ser53=	coding	Benign
19	43769027	C	T	C43769027T	KCNN4	NM_002250.3(KCNN4):c.1055G>A:p.Arg352His	coding	Pathogenic
19	43769804	A	T	A43769804T	KCNN4	NM_002250.3(KCNN4):c.845T>A:p.Val282Glu	coding	Pathogenic
19	43769805	C	T	C43769805T	KCNN4	NM_002250.3(KCNN4):c.844G>A:p.Val282Met	coding	Pathogenic
19	43774371	G	A	G43774371A	KCNN4	NM_002250.3(KCNN4):c.504C>T:p.Leu168=	coding	Benign
19	43776567	C	T	C43776567T	KCNN4	NM_002250.3(KCNN4):c.229G>A:p.Val77Met	coding	Benign
19	43797597	T	C	T43797597C	LYPD5	NM_001031749.3(LYPD5):c.750A>G:p.Ser250=	coding	Benign
19	43847843	C	T	C43847843T	ZNF283	NM_181845.2(ZNF283):c.1242C>T:p.Cys414=	coding	Benign
19	43874084	G	T	G43874084T	ZNF404	NM_001033719.3(ZNF404):c.137-7C>A	noncoding	Benign
19	44100937	G	A	G44100937A	ZNF224	NM_013398.4(ZNF224):c.142+10G>A	noncoding	Benign
19	44106801	G	A	G44106801A	ZNF224	NM_013398.4(ZNF224):c.641G>A:p.Ser214Asn	coding	Benign
19	44106817	G	T	G44106817T	ZNF224	NM_013398.4(ZNF224):c.657G>T:p.Leu219=	coding	Benign
19	44107286	G	C	G44107286C	ZNF224	NM_013398.4(ZNF224):c.1126G>C:p.Glu376Gln	coding	Benign
19	44107501	G	T	G44107501T	ZNF224	NM_013398.4(ZNF224):c.1341G>T:p.Gln447His	coding	Benign
19	44107744	T	C	T44107744C	ZNF224	NM_013398.4(ZNF224):c.1584T>C:p.Asp528=	coding	Benign
19	44108083	G	C	G44108083C	ZNF224	NM_013398.4(ZNF224):c.1923G>C:p.Val641=	coding	Benign
19	44108260	T	C	T44108260C	ZNF224	NM_013398.4(ZNF224):c.2100T>C:p.Asn700=	coding	Benign
19	44327931	C	T	C44327931T	ZNF112	NM_013380.4(ZNF112):c.2226G>A:p.Pro742=	coding	Benign
19	44329009	T	A	T44329009A	ZNF112	NM_013380.4(ZNF112):c.1148A>T:p.Tyr383Phe	coding	Benign
19	44650098	C	T	C44650098T	PVR	NM_006505.5(PVR):c.717C>T:p.Thr239=	coding	Benign
19	44701493	G	T	G44701493T	CEACAM16	NM_001039213.4(CEACAM16):c.37G>T:p.Ala13Ser	coding	Pathogenic
19	44703354	T	C	T44703354C	CEACAM16	NM_001039213.4(CEACAM16):c.43T>C:p.Phe15Leu	coding	Benign
19	44703362	T	C	T44703362C	CEACAM16	NM_001039213.4(CEACAM16):c.51T>C:p.Asn17=	coding	Benign
19	44703406	G	T	G44703406T	CEACAM16	NM_001039213.4(CEACAM16):c.95G>T:p.Ser32Ile	coding	Benign/Likely_benign
19	44703407	C	T	C44703407T	CEACAM16	NM_001039213.4(CEACAM16):c.96C>T:p.Ser32=	coding	Benign
19	44703425	G	A	G44703425A	CEACAM16	NM_001039213.4(CEACAM16):c.114G>A:p.Thr38=	coding	Benign
19	44703545	C	T	C44703545T	CEACAM16	NM_001039213.4(CEACAM16):c.234C>T:p.Gly78=	coding	Benign/Likely_benign
19	44703663	G	A	G44703663A	CEACAM16	NM_001039213.4(CEACAM16):c.352G>A:p.Glu118Lys	coding	Benign/Likely_benign
19	44704053	A	C	A44704053C	CEACAM16	NM_001039213.4(CEACAM16):c.418A>C:p.Thr140Pro	coding	Pathogenic
19	44704140	G	A	G44704140A	CEACAM16	NM_001039213.4(CEACAM16):c.505G>A:p.Gly169Arg	coding	Pathogenic
19	44704143	G	A	G44704143A	CEACAM16	NM_001039213.4(CEACAM16):c.508G>A:p.Ala170Thr	coding	Benign/Likely_benign
19	44704174	C	T	C44704174T	CEACAM16	NM_001039213.4(CEACAM16):c.539C>T:p.Ser180Phe	coding	Benign
19	44705589	G	C	G44705589C	CEACAM16	NM_001039213.4(CEACAM16):c.662-1G>C	noncoding	Pathogenic
19	44705631	C	T	C44705631T	CEACAM16	NM_001039213.4(CEACAM16):c.703C>T:p.Arg235Cys	coding	Pathogenic
19	44705666	G	A	G44705666A	CEACAM16	NM_001039213.4(CEACAM16):c.738G>A:p.Thr246=	coding	Benign/Likely_benign
19	44707847	C	T	C44707847T	CEACAM16	NM_001039213.4(CEACAM16):c.941-14C>T	noncoding	Benign
19	44708123	C	T	C44708123T	CEACAM16	NM_001039213.4(CEACAM16):c.1203C>T:p.Tyr401=	coding	Benign
19	44708135	T	C	T44708135C	CEACAM16	NM_001039213.4(CEACAM16):c.1215T>C:p.Thr405=	coding	Benign
19	44710480	C	T	C44710480T	CEACAM16	NM_001039213.4(CEACAM16):c.1268-16C>T	noncoding	Benign
19	44710483	A	G	A44710483G	CEACAM16	NM_001039213.4(CEACAM16):c.1268-13A>G	noncoding	Benign
19	44710506	A	G	A44710506G	CEACAM16	NM_001039213.4(CEACAM16):c.1278A>G:p.Ter426=	coding	Benign
19	44757093	T	C	T44757093C	BCL3	NM_005178.5(BCL3):c.596T>C:p.Met199Thr	coding	Benign
19	44757714	G	T	G44757714T	BCL3	NM_005178.5(BCL3):c.882G>T:p.Leu294=	coding	Benign
19	44812188	G	A	G44812188A	BCAM	NM_005581.4(BCAM):c.230G>A:p.Arg77His	coding	Benign
19	44812319	C	T	C44812319T	BCAM	NM_001013257.2(BCAM):c.361C>T:p.Arg121Ter	coding	Pathogenic
19	44813527	C	T	C44813527T	BCAM	NM_001013257.2(BCAM):c.691C>T:p.Arg231Ter	coding	Pathogenic
19	44813547	C	A	C44813547A	BCAM	NM_001013257.2(BCAM):c.711C>A:p.Cys237Ter	coding	Pathogenic
19	44813568	C	G	C44813568G	BCAM	NM_005581.5(BCAM):c.732C>G:p.Pro244=	coding	Benign
19	44814212	G	A	G44814212A	BCAM	NM_005581.5(BCAM):c.845G>A:p.Arg282His	coding	Benign
19	44814595	G	A	G44814595A	BCAM	NM_005581.5(BCAM):c.922-9G>A	noncoding	Benign
19	44818584	G	A	G44818584A	BCAM	NM_005581.5(BCAM):c.1141G>A:p.Val381Ile	coding	Benign
19	44818773	G	T	G44818773T	BCAM	NM_005581.5(BCAM):c.1227G>T:p.Leu409=	coding	Benign
19	44819487	A	G	A44819487G	BCAM	NM_001013257.2(BCAM):c.1615A>G:p.Thr539Ala	coding	Benign
19	44819583	G	A	G44819583A	BCAM	NM_005581.5(BCAM):c.1620G>A:p.Val540=	coding	Benign
19	44865548	C	T	C44865548T	NECTIN2	NM_001042724.2(NECTIN2):c.366C>T:p.Asp122=	coding	Benign
19	44871900	G	C	G44871900C	NECTIN2	NM_001042724.2(NECTIN2):c.526G>C:p.Asp176His	coding	Benign
19	44873997	G	A	G44873997A	NECTIN2	NM_001042724.2(NECTIN2):c.857G>A:p.Arg286His	coding	Benign
19	44882231	G	A	G44882231A	NECTIN2	NM_001042724.2(NECTIN2):c.1063G>A:p.Ala355Thr	coding	Benign
19	44885941	G	C	G44885941C	NECTIN2	NM_001042724.2(NECTIN2):c.1201G>C:p.Glu401Gln	coding	Benign
19	44888161	T	C	T44888161C	NECTIN2	NM_001042724.2(NECTIN2):c.1399T>C:p.Leu467=	coding	Benign
19	44891562	T	G	T44891562G	TOMM40	NM_001128917.2(TOMM40):c.147T>G:p.Ser49Arg	coding	Benign
19	44900743	C	T	C44900743T	TOMM40	NM_001128917.2(TOMM40):c.657C>T:p.Ala219=	coding	Benign
19	44907777	G	A	G44907777A	APOE	NM_000041.4(APOE):c.61G>A:p.Glu21Lys	coding	Pathogenic
19	44907807	G	A	G44907807A	APOE	NM_000041.4(APOE):c.91G>A:p.Glu31Lys	coding	Pathogenic
19	44907843	C	T	C44907843T	APOE	NM_000041.4(APOE):c.127C>T:p.Arg43Cys	coding	Pathogenic
19	44907894	A	G	A44907894G	APOE	NM_000041.4(APOE):c.178A>G:p.Thr60Ala	coding	Pathogenic
19	44908531	A	G	A44908531G	APOE	NM_000041.4(APOE):c.237-2A>G	noncoding	Pathogenic
19	44908751	G	A	G44908751A	APOE	NM_000041.4(APOE):c.455G>A:p.Arg152Gln	coding	Pathogenic
19	44908756	C	A	C44908756A	APOE	NM_000041.4(APOE):c.460C>A:p.Arg154Ser	coding	Pathogenic
19	44908783	C	T	C44908783T	APOE	NM_000041.4(APOE):c.487C>T:p.Arg163Cys	coding	Benign
19	44908784	G	A	G44908784A	APOE	NM_000041.4(APOE):c.488G>A:p.Arg163His	coding	Pathogenic
19	44908784	G	C	G44908784C	APOE	NM_000041.4(APOE):c.488G>C:p.Arg163Pro	coding	Pathogenic
19	44908786	A	C	A44908786C	APOE	NM_000041.4(APOE):c.490A>C:p.Lys164Gln	coding	Pathogenic
19	44908786	A	G	A44908786G	APOE	NM_000041.4(APOE):c.490A>G:p.Lys164Glu	coding	Pathogenic
19	44908947	C	T	C44908947T	APOE	NM_000041.4(APOE):c.651C>T:p.Ala217=	coding	Benign
19	44908979	G	A	G44908979A	APOE	NM_000041.4(APOE):c.683G>A:p.Trp228Ter	coding	Pathogenic
19	44909032	C	T	C44909032T	APOE	NM_000041.4(APOE):c.736C>T:p.Arg246Cys	coding	Pathogenic
19	44909171	G	A	G44909171A	APOE	NM_000041.4(APOE):c.875G>A:p.Arg292His	coding	Pathogenic
19	44909236	A	C	A44909236C	APOE	NM_000041.4(APOE):c.940A>C:p.Ser314Arg	coding	Pathogenic
19	44946027	T	G	T44946027G	APOC2	NM_000483.4(APOC2):c.-62T>G	noncoding	Benign
19	44948477	C	T	C44948477T	APOC2	NM_000483.5(APOC2):c.-2C>T	noncoding	Benign
19	44948479	A	G	A44948479G	APOC2	NM_000483.5(APOC2):c.1A>G:p.Met1Val	coding	Pathogenic
19	44948534	G	C	G44948534C	APOC2	NM_000483.5(APOC2):c.55+1G>C	coding	Pathogenic
19	44948697	G	C	G44948697C	APOC2	NM_000483.5(APOC2):c.56-4G>C	noncoding	Benign
19	44948767	A	C	A44948767C	APOC2	NM_000483.5(APOC2):c.122A>C:p.Lys41Thr	coding	Benign
19	44948787	T	C	T44948787C	APOC2	NM_000483.5(APOC2):c.142T>C:p.Trp48Arg	coding	Pathogenic
19	44948822	C	A	C44948822A	APOC2	NM_000483.5(APOC2):c.177C>A:p.Tyr59Ter	coding	Pathogenic
19	44948822	C	G	C44948822G	APOC2	NM_000483.5(APOC2):c.177C>G:p.Tyr59Ter	coding	Pathogenic
19	44948834	C	A	C44948834A	APOC2	NM_000483.5(APOC2):c.189C>A:p.Tyr63Ter	coding	Pathogenic
19	44949172	A	C	A44949172C	APOC2	NM_000483.5(APOC2):c.229A>C:p.Lys77Gln	coding	Benign
19	44949198	C	A	C44949198A	APOC2	NM_000483.5(APOC2):c.255C>A:p.Tyr85Ter	coding	Pathogenic
19	44949339	C	T	C44949339T	APOC2	NM_000483.5(APOC2):c.*90C>T	noncoding	Benign
19	44949555	C	T	C44949555T	APOC2	NM_000483.5(APOC2):c.*306C>T	noncoding	Benign
19	44962025	G	A	G44962025A	CLPTM1	NM_001294.4(CLPTM1):c.135G>A:p.Pro45=	coding	Benign
19	44973156	C	T	C44973156T	CLPTM1	NM_001294.4(CLPTM1):c.255C>T:p.Pro85=	coding	Benign
19	44974474	T	C	T44974474C	CLPTM1	NM_001294.4(CLPTM1):c.345T>C:p.Phe115=	coding	Benign
19	44977430	C	T	C44977430T	CLPTM1	NM_001294.4(CLPTM1):c.556C>T:p.Arg186Cys	coding	Benign
19	44990546	C	T	C44990546T	CLPTM1	NM_001294.4(CLPTM1):c.1284C>T:p.Leu428=	coding	Benign
19	44991276	C	T	C44991276T	CLPTM1	NM_001294.4(CLPTM1):c.1458C>T:p.Leu486=	coding	Benign
19	45145823	T	C	T45145823C	PPP1R37	NM_019121.2(PPP1R37):c.1767T>C:p.Pro589=	coding	Benign
19	45179290	C	G	C45179290G	BLOC1S3	NM_212550.4(BLOC1S3):c.-7C>G	noncoding	Benign
19	45179427	C	A	C45179427A	BLOC1S3	NM_212550.4(BLOC1S3):c.131C>A:p.Ser44Ter	coding	Pathogenic
19	45179440	C	A	C45179440A	BLOC1S3	NM_212550.5(BLOC1S3):c.144C>A:p.Arg48=	coding	Benign
19	45179566	G	A	G45179566A	BLOC1S3	NM_212550.5(BLOC1S3):c.270G>A:p.Ala90=	coding	Benign
19	45179618	C	G	C45179618G	BLOC1S3	NM_212550.5(BLOC1S3):c.322C>G:p.Leu108Val	coding	Benign/Likely_benign
19	45179635	G	A	G45179635A	BLOC1S3	NM_212550.5(BLOC1S3):c.339G>A:p.Leu113=	coding	Benign
19	45179662	C	T	C45179662T	BLOC1S3	NM_212550.5(BLOC1S3):c.366C>T:p.His122=	coding	Benign/Likely_benign
19	45179787	G	A	G45179787A	BLOC1S3	NM_212550.4(BLOC1S3):c.491G>A:p.Arg164His	coding	Benign/Likely_benign
19	45179905	G	A	G45179905A	BLOC1S3	NM_212550.4(BLOC1S3):c.609G>A:p.Ter203=	coding	Benign
19	45271600	G	A	G45271600A	MARK4	NM_001199867.2(MARK4):c.678G>A:p.Leu226=	coding	Benign
19	45287553	C	T	C45287553T	MARK4	NM_001199867.2(MARK4):c.1383C>T:p.Thr461=	coding	Benign
19	45315606	C	T	C45315606T	CKM	NM_001824.5(CKM):c.349-9G>A	noncoding	Benign
19	45351458	C	G	C45351458G	ERCC2	NM_177417.3(KLC3):c.*101C>G	noncoding	Benign
19	45351661	T	G	T45351661G	ERCC2	NM_000400.4(ERCC2):c.2251A>C:p.Lys751Gln	coding	Benign
19	45351725	C	T	C45351725T	ERCC2	NM_000400.4(ERCC2):c.2191-4G>A	noncoding	Benign/Likely_benign
19	45352197	C	T	C45352197T	ERCC2	NM_000400.3(ERCC2):c.2190+12G>A	noncoding	Benign
19	45352223	G	A	G45352223A	ERCC2	NM_000400.3(ERCC2):c.2176C>T:p.Gln726Ter	coding	Pathogenic
19	45352226	C	G	C45352226G	ERCC2	NM_000400.3(ERCC2):c.2173G>C:p.Ala725Pro	coding	Pathogenic
19	45352235	G	A	G45352235A	ERCC2	NM_000400.3(ERCC2):c.2164C>T:p.Arg722Trp	coding	Pathogenic
19	45352262	C	G	C45352262G	ERCC2	NM_000400.3(ERCC2):c.2137G>C:p.Gly713Arg	coding	Pathogenic
19	45352266	G	A	G45352266A	ERCC2	NM_000400.4(ERCC2):c.2133C>T:p.Asp711=	coding	Benign
19	45352351	C	T	C45352351T	ERCC2	NM_000400.3(ERCC2):c.2048G>A:p.Arg683Gln	coding	Pathogenic
19	45352352	G	A	G45352352A	ERCC2	NM_000400.3(ERCC2):c.2047C>T:p.Arg683Trp	coding	Pathogenic/Likely_pathogenic
19	45352505	C	A	C45352505A	ERCC2	NM_000400.3(ERCC2):c.2046+1G>T	noncoding	Pathogenic
19	45352511	C	T	C45352511T	ERCC2	NM_000400.3(ERCC2):c.2041G>A:p.Asp681Asn	coding	Pathogenic
19	45352580	G	A	G45352580A	ERCC2	NM_000400.3(ERCC2):c.1972C>T:p.Arg658Cys	coding	Pathogenic
19	45352801	C	G	C45352801G	ERCC2	NM_000400.3(ERCC2):c.1847G>C:p.Arg616Pro	coding	Pathogenic
19	45352802	G	A	G45352802A	ERCC2	NM_000400.3(ERCC2):c.1846C>T:p.Arg616Trp	coding	Pathogenic
19	45352806	G	A	G45352806A	ERCC2	NM_000400.4(ERCC2):c.1842C>T:p.Tyr614=	coding	Benign
19	45352822	G	A	G45352822A	ERCC2	NM_000400.4(ERCC2):c.1832-6C>T	noncoding	Benign/Likely_benign
19	45353210	G	C	G45353210C	ERCC2	NM_000400.3(ERCC2):c.1758+32C>G	noncoding	Benign
19	45353263	G	A	G45353263A	ERCC2	NM_000400.3(ERCC2):c.1737C>T:p.Val579=	coding	Benign/Likely_benign
19	45354763	G	A	G45354763A	ERCC2	NM_000400.4(ERCC2):c.1632C>T:p.Tyr544=	coding	Benign
19	45354774	T	G	T45354774G	ERCC2	NM_000400.3(ERCC2):c.1621A>C:p.Ser541Arg	coding	Pathogenic
19	45357295	A	G	A45357295G	ERCC2	NM_000400.3(ERCC2):c.1454T>C:p.Leu485Pro	coding	Pathogenic
19	45357512	C	T	C45357512T	ERCC2	NM_000400.4(ERCC2):c.1339G>A:p.Val447Ile	coding	Benign
19	45357671	G	A	G45357671A	ERCC2	NM_000400.4(ERCC2):c.1266C>T:p.Asp422=	coding	Benign
19	45358854	G	C	G45358854C	ERCC2	NM_000400.4(ERCC2):c.1238-1155C>G	coding	Benign
19	45364001	C	T	C45364001T	ERCC2	NM_000400.4(ERCC2):c.934G>A:p.Asp312Asn	coding	Benign
19	45364418	C	A	C45364418A	ERCC2	NM_000400.3(ERCC2):c.718+6G>T	noncoding	Benign
19	45364443	G	A	G45364443A	ERCC2	NM_000400.4(ERCC2):c.699C>T:p.Phe233=	coding	Benign
19	45364455	G	A	G45364455A	ERCC2	NM_000400.4(ERCC2):c.687C>T:p.Ala229=	coding	Benign
19	45364509	G	A	G45364509A	ERCC2	NM_000400.4(ERCC2):c.633C>T:p.Tyr211=	coding	Benign
19	45364865	C	T	C45364865T	ERCC2	NM_000400.4(ERCC2):c.567G>A:p.Trp189Ter	coding	Pathogenic
19	45365033	T	G	T45365033G	ERCC2	NM_000400.3(ERCC2):c.477+9A>C	noncoding	Benign
19	45365051	T	G	T45365051G	ERCC2	NM_000400.4(ERCC2):c.468A>C:p.Arg156=	coding	Benign
19	45365053	G	A	G45365053A	ERCC2	NM_000400.3(ERCC2):c.466C>T:p.Arg156Ter	coding	Pathogenic
19	45365102	G	C	G45365102C	ERCC2	NM_000400.4(ERCC2):c.417C>G:p.Ala139=	coding	Benign
19	45365132	G	A	G45365132A	ERCC2	NM_000400.4(ERCC2):c.387C>T:p.Asp129=	coding	Benign/Likely_benign
19	45368655	C	T	C45368655T	ERCC2	NM_000400.3(ERCC2):c.335G>A:p.Arg112His	coding	Pathogenic
19	45368692	C	A	C45368692A	ERCC2	NM_000400.3(ERCC2):c.298G>T:p.Glu100Ter	coding	Pathogenic
19	45368696	C	G	C45368696G	ERCC2	NM_000400.3(ERCC2):c.294G>C:p.Glu98Asp	coding	Benign
19	45368706	T	C	T45368706C	ERCC2	NM_000400.3(ERCC2):c.284A>G:p.Glu95Gly	coding	Benign
19	45368778	C	T	C45368778T	ERCC2	NM_000400.3(ERCC2):c.247-35G>A	noncoding	Benign
19	45368993	C	A	C45368993A	ERCC2	NM_000400.3(ERCC2):c.184-1G>T	coding	Pathogenic
19	45369132	C	A	C45369132A	ERCC2	NM_000400.3(ERCC2):c.121G>T:p.Glu41Ter	coding	Pathogenic
19	45370534	A	T	A45370534T	ERCC2	NM_000400.4(ERCC2):c.5+2T>A	coding	Pathogenic
19	45385569	G	C	G45385569C	PPP1R13L	NM_006663.4(PPP1R13L):c.2241C>G:p.Tyr747Ter	coding	Pathogenic
19	45385704	C	T	C45385704T	PPP1R13L	NM_006663.4(PPP1R13L):c.2106G>A:p.Ser702=	coding	Benign
19	45396567	G	A	G45396567A	PPP1R13L	NM_006663.4(PPP1R13L):c.690C>T:p.Phe230=	coding	Benign
19	45398041	G	A	G45398041A	PPP1R13L	NM_006663.4(PPP1R13L):c.162C>T:p.Pro54=	coding	Benign
19	45413645	C	T	C45413645T	ERCC1	NM_001983.4(ERCC1):c.843+32G>A	coding	Benign
19	45413671	T	C	T45413671C	ERCC1	NM_001983.4(ERCC1):c.843+6A>G	coding	Benign
19	45413728	G	A	G45413728A	ERCC1	NM_001983.4(ERCC1):c.792C>T:p.Ile264=	coding	Benign
19	45414870	G	C	G45414870C	ERCC1	NM_001983.4(ERCC1):c.693C>G:p.Phe231Leu	coding	Pathogenic
19	45414887	T	A	T45414887A	ERCC1	NM_001983.4(ERCC1):c.676A>T:p.Lys226Ter	coding	Pathogenic
19	45419096	A	G	A45419096G	ERCC1	NM_001983.4(ERCC1):c.525+2T>C	noncoding	Pathogenic
19	45419151	G	A	G45419151A	ERCC1	NM_001983.4(ERCC1):c.472C>T:p.Gln158Ter	coding	Pathogenic
19	45419157	G	A	G45419157A	ERCC1	NM_001983.4(ERCC1):c.466C>T:p.Arg156Trp	coding	Pathogenic
19	45420359	A	G	A45420359G	ERCC1	NM_001983.4(ERCC1):c.390T>C:p.Tyr130=	coding	Benign
19	45420374	G	A	G45420374A	ERCC1	NM_001983.4(ERCC1):c.375C>T:p.Asp125=	coding	Benign
19	45421396	G	A	G45421396A	ERCC1	NM_001983.4(ERCC1):c.106-3C>T	noncoding	Benign
19	45468683	G	A	G45468683A	FOSB	NM_006732.3(FOSB):c.97G>A:p.Gly33Ser	coding	Benign
19	45478610	G	C	G45478610C	TRU-TCA1-1	NC_000019.10:g.45478610G>C	noncoding	Pathogenic
19	45485753	G	A	G45485753A	RTN2	NM_005619.5(RTN2):c.1593C>T:p.Ala531=	coding	Benign/Likely_benign
19	45486215	G	T	G45486215T	RTN2	NM_005619.5(RTN2):c.1498-102C>A	noncoding	Benign
19	45488378	G	C	G45488378C	RTN2	NM_005619.5(RTN2):c.1497+93C>G	noncoding	Benign
19	45488916	G	A	G45488916A	RTN2	NM_005619.5(RTN2):c.1312C>T:p.Arg438Cys	coding	Benign/Likely_benign
19	45488954	C	T	C45488954T	RTN2	NM_005619.5(RTN2):c.1274G>A:p.Arg425Gln	coding	Benign
19	45489123	T	C	T45489123C	RTN2	NM_005619.5(RTN2):c.1242-137A>G	noncoding	Benign
19	45489286	G	A	G45489286A	RTN2	NM_005619.5(RTN2):c.1241+60C>T	noncoding	Benign
19	45489419	C	T	C45489419T	RTN2	NM_005619.5(RTN2):c.1168G>A:p.Gly390Ser	coding	Benign/Likely_benign
19	45489431	A	G	A45489431G	RTN2	NM_005619.5(RTN2):c.1156T>C:p.Leu386=	coding	Benign
19	45489444	C	T	C45489444T	RTN2	NM_005619.5(RTN2):c.1143G>A:p.Ala381=	coding	Benign/Likely_benign
19	45489487	G	A	G45489487A	RTN2	NM_005619.5(RTN2):c.1100C>T:p.Ser367Phe	coding	Pathogenic
19	45493042	T	G	T45493042G	RTN2	NM_005619.5(RTN2):c.1033+118A>C	noncoding	Benign
19	45493264	G	T	G45493264T	RTN2	NM_005619.5(RTN2):c.929C>A:p.Pro310His	coding	Benign
19	45493335	A	T	A45493335T	RTN2	NM_005619.5(RTN2):c.858T>A:p.Val286=	coding	Benign
19	45494003	T	A	T45494003A	RTN2	NM_005619.5(RTN2):c.814+163A>T	noncoding	Benign
19	45494188	G	T	G45494188T	RTN2	NM_005619.5(RTN2):c.792C>A:p.Phe264Leu	coding	Benign
19	45494308	C	T	C45494308T	RTN2	NM_005619.5(RTN2):c.672G>A:p.Ser224=	coding	Benign
19	45494641	G	C	G45494641C	RTN2	NM_005619.5(RTN2):c.444C>G:p.Gly148=	coding	Benign
19	45494696	G	A	G45494696A	RTN2	NM_005619.5(RTN2):c.389C>T:p.Ala130Val	coding	Benign
19	45494734	T	C	T45494734C	RTN2	NM_005619.5(RTN2):c.351A>G:p.Gln117=	coding	Benign
19	45494800	T	C	T45494800C	RTN2	NM_005619.5(RTN2):c.285A>G:p.Glu95=	coding	Benign
19	45494911	G	A	G45494911A	RTN2	NM_005619.5(RTN2):c.174C>T:p.Thr58=	coding	Benign
19	45494989	A	G	A45494989G	RTN2	NM_005619.5(RTN2):c.96T>C:p.Ser32=	coding	Benign
19	45495088	C	A	C45495088A	RTN2	NM_005619.5(RTN2):c.79+7G>T	noncoding	Benign
19	45495123	T	C	T45495123C	RTN2	NM_005619.5(RTN2):c.51A>G:p.Thr17=	coding	Benign
19	45497277	T	G	T45497277G	RTN2	NC_000019.10:g.45497277T>G	noncoding	Benign
19	45518061	G	A	G45518061A	VASP	NM_003370.4(VASP):c.310G>A:p.Ala104Thr	coding	Benign
19	45546429	T	C	T45546429C	OPA3	NM_025136.4(OPA3):c.*7085A>G	coding	Benign/Likely_benign
19	45546499	C	T	C45546499T	OPA3	NM_025136.4(OPA3):c.*7015G>A	coding	Benign
19	45546724	A	G	A45546724G	OPA3	NM_025136.4(OPA3):c.*6790T>C	coding	Benign
19	45547120	C	T	C45547120T	OPA3	NM_025136.4(OPA3):c.*6394G>A	coding	Benign/Likely_benign
19	45547220	T	G	T45547220G	OPA3	NM_025136.4(OPA3):c.*6294A>C	coding	Benign/Likely_benign
19	45547239	A	G	A45547239G	OPA3	NM_025136.4(OPA3):c.*6275T>C	coding	Benign
19	45547502	T	C	T45547502C	OPA3	NM_025136.4(OPA3):c.*6012A>G	coding	Benign
19	45547609	C	T	C45547609T	OPA3	NM_025136.4(OPA3):c.*5905G>A	coding	Benign/Likely_benign
19	45547989	G	A	G45547989A	OPA3	NM_025136.4(OPA3):c.*5525C>T	coding	Benign
19	45547991	C	T	C45547991T	OPA3	NM_025136.4(OPA3):c.*5523G>A	coding	Benign
19	45548720	G	A	G45548720A	OPA3	NM_025136.4(OPA3):c.*4794C>T	coding	Benign/Likely_benign
19	45548842	C	T	C45548842T	OPA3	NM_025136.4(OPA3):c.*4672G>A	coding	Benign
19	45549196	A	G	A45549196G	OPA3	NM_025136.4(OPA3):c.*4318T>C	coding	Benign
19	45549792	C	T	C45549792T	OPA3	NM_025136.4(OPA3):c.*3722G>A	coding	Benign
19	45550292	G	A	G45550292A	OPA3	NM_025136.4(OPA3):c.*3222C>T	coding	Benign/Likely_benign
19	45550302	C	T	C45550302T	OPA3	NM_025136.4(OPA3):c.*3212G>A	coding	Benign
19	45550476	C	T	C45550476T	OPA3	NM_025136.4(OPA3):c.*3038G>A	coding	Benign
19	45551564	C	T	C45551564T	OPA3	NM_025136.4(OPA3):c.*1950G>A	coding	Benign
19	45551659	A	G	A45551659G	OPA3	NM_025136.4(OPA3):c.*1855T>C	coding	Benign/Likely_benign
19	45551754	G	A	G45551754A	OPA3	NM_025136.4(OPA3):c.*1760C>T	coding	Benign/Likely_benign
19	45552127	G	A	G45552127A	OPA3	NM_025136.4(OPA3):c.*1387C>T	coding	Benign
19	45552174	G	A	G45552174A	OPA3	NM_025136.4(OPA3):c.*1340C>T	coding	Benign/Likely_benign
19	45553152	A	G	A45553152G	OPA3	NM_025136.4(OPA3):c.*362T>C	coding	Benign/Likely_benign
19	45553242	C	T	C45553242T	OPA3	NM_025136.4(OPA3):c.*272G>A	coding	Benign
19	45553362	C	T	C45553362T	OPA3	NM_025136.4(OPA3):c.*152G>A	coding	Benign
19	45553514	C	G	C45553514G	OPA3	NM_025136.4(OPA3):c.540G>C:p.Ter180Tyr	coding	Pathogenic
19	45553517	T	C	T45553517C	OPA3	NM_025136.4(OPA3):c.537A>G:p.Lys179=	coding	Benign/Likely_benign
19	45553642	C	T	C45553642T	OPA3	NM_025136.4(OPA3):c.412G>A:p.Ala138Thr	coding	Benign/Likely_benign
19	45553741	G	C	G45553741C	OPA3	NM_025136.4(OPA3):c.313C>G:p.Gln105Glu	coding	Pathogenic
19	45553777	C	T	C45553777T	OPA3	NM_025136.4(OPA3):c.277G>A:p.Gly93Ser	coding	Pathogenic
19	45553823	A	G	A45553823G	OPA3	NM_025136.4(OPA3):c.231T>C:p.Ala77=	coding	Benign
19	45553912	C	G	C45553912G	OPA3	NM_025136.4(OPA3):c.143-1G>C	coding	Pathogenic
19	45584733	A	T	A45584733T	OPA3	NM_025136.4(OPA3):c.32T>A:p.Leu11Gln	coding	Pathogenic
19	45584802	T	C	T45584802C	OPA3	NM_025136.4(OPA3):c.-38A>G	noncoding	Benign/Likely_benign
19	45584839	C	T	C45584839T	OPA3	NM_025136.3(OPA3):c.-75G>A	noncoding	Benign
19	45584850	C	T	C45584850T	OPA3	NM_025136.3(OPA3):c.-86G>A	noncoding	Benign
19	45695567	G	A	G45695567A	QPCTL	NM_017659.4(QPCTL):c.482G>A:p.Arg161His	coding	Benign
19	45712806	G	A	G45712806A	FBXO46	NM_001080469.2(FBXO46):c.690C>T:p.Ala230=	coding	Benign
19	45765644	C	T	C45765644T	SIX5	NM_175875.5(SIX5):c.2077G>A:p.Val693Met	coding	Benign
19	45765758	G	A	G45765758A	SIX5	NM_175875.5(SIX5):c.1963C>T:p.Leu655=	coding	Benign
19	45765818	G	A	G45765818A	SIX5	NM_175875.5(SIX5):c.1903C>T:p.Pro635Ser	coding	Benign
19	45765938	C	T	C45765938T	SIX5	NM_175875.5(SIX5):c.1783G>A:p.Val595Met	coding	Benign
19	45766423	G	A	G45766423A	SIX5	NM_175875.5(SIX5):c.1536C>T:p.Gly512=	coding	Benign
19	45766866	C	T	C45766866T	SIX5	NM_175875.5(SIX5):c.1093G>A:p.Gly365Arg	coding	Pathogenic
19	45766917	G	A	G45766917A	SIX5	NM_175875.5(SIX5):c.1042C>T:p.Leu348=	coding	Benign/Likely_benign
19	45767073	C	T	C45767073T	SIX5	NM_175875.5(SIX5):c.886G>A:p.Ala296Thr	coding	Pathogenic
19	45768113	C	T	C45768113T	SIX5	NM_175875.5(SIX5):c.732G>A:p.Gln244=	coding	Benign
19	45768470	C	G	C45768470G	SIX5	NM_175875.5(SIX5):c.375G>C:p.Pro125=	coding	Benign
19	45768632	C	A	C45768632A	SIX5	NM_175875.5(SIX5):c.213G>T:p.Gly71=	coding	Benign
19	45772718	G	C	G45772718C	DMPK	NM_004409.5(DMPK):c.1267C>G:p.Leu423Val	coding	Benign
19	45777542	G	A	G45777542A	DMPK	NM_004409.5(DMPK):c.931C>T:p.Arg311Ter	coding	Pathogenic
19	45778487	A	G	A45778487G	DMPK	NM_004409.5(DMPK):c.581+6T>C	noncoding	Benign
19	45940193	G	A	G45940193A	NOVA2	NM_002516.4(NOVA2):c.1149C>T:p.Ala383=	coding	Benign
19	45961122	G	A	G45961122A	NOVA2	NM_002516.4(NOVA2):c.117C>T:p.Ile39=	coding	Benign
19	46312267	T	C	T46312267C	HIF3A	NM_152795.4(HIF3A):c.877T>C:p.Leu293=	coding	Benign
19	46325586	T	C	T46325586C	HIF3A	NM_152795.4(HIF3A):c.1387T>C:p.Phe463Leu	coding	Benign
19	46329485	C	T	C46329485T	HIF3A	NM_152795.4(HIF3A):c.1712+7C>T	noncoding	Benign
19	46411290	C	G	C46411290G	CCDC8	NM_032040.5(CCDC8):c.1521G>C:p.Lys507Asn	coding	Benign
19	46411576	A	T	A46411576T	CCDC8	NM_032040.5(CCDC8):c.1235T>A:p.Val412Glu	coding	Benign
19	46411670	C	T	C46411670T	CCDC8	NM_032040.5(CCDC8):c.1141G>A:p.Asp381Asn	coding	Benign
19	46411698	G	C	G46411698C	CCDC8	NM_032040.5(CCDC8):c.1113C>G:p.Ala371=	coding	Benign
19	46411766	C	G	C46411766G	CCDC8	NM_032040.5(CCDC8):c.1045G>C:p.Ala349Pro	coding	Benign
19	46411857	A	C	A46411857C	CCDC8	NM_032040.5(CCDC8):c.954T>G:p.Asn318Lys	coding	Benign/Likely_benign
19	46412212	T	A	T46412212A	CCDC8	NM_032040.5(CCDC8):c.599A>T:p.Gln200Leu	coding	Benign
19	46412685	G	A	G46412685A	CCDC8	NM_032040.5(CCDC8):c.126C>T:p.Thr42=	coding	Benign
19	46412751	A	G	A46412751G	CCDC8	NM_032040.5(CCDC8):c.60T>C:p.Ala20=	coding	Benign
19	46601421	C	A	C46601421A	CALM3	NM_005184.4(CALM3):c.-14C>A	noncoding	Benign
19	46605754	T	C	T46605754C	CALM3	NM_005184.4(CALM3):c.4-73T>C	noncoding	Benign
19	46608406	T	C	T46608406C	CALM3	NM_005184.4(CALM3):c.178+66T>C	noncoding	Benign
19	46608504	G	A	G46608504A	CALM3	NM_005184.4(CALM3):c.201G>A:p.Pro67=	coding	Benign
19	46608570	G	A	G46608570A	CALM3	NM_005184.4(CALM3):c.267G>A:p.Ala89=	coding	Benign/Likely_benign
19	46608584	A	C	A46608584C	CALM3	NM_005184.4(CALM3):c.281A>C:p.Asp94Ala	coding	Pathogenic
19	46608846	G	C	G46608846C	CALM3	NM_005184.4(CALM3):c.286G>C:p.Asp96His	coding	Pathogenic
19	46608866	C	T	C46608866T	CALM3	NM_005184.4(CALM3):c.306C>T:p.Ser102=	coding	Benign/Likely_benign
19	46608949	A	G	A46608949G	CALM3	NM_005184.4(CALM3):c.389A>G:p.Asp130Gly	coding	Pathogenic
19	46608950	C	T	C46608950T	CALM3	NM_005184.4(CALM3):c.390C>T:p.Asp130=	coding	Benign
19	46608956	T	A	T46608956A	CALM3	NM_005184.4(CALM3):c.396T>A:p.Asp132Glu	coding	Pathogenic
19	46608981	G	A	G46608981A	CALM3	NM_005184.4(CALM3):c.421G>A:p.Glu141Lys	coding	Pathogenic
19	46621322	C	T	C46621322T	PTGIR	NM_000960.4(PTGIR):c.1119G>A:p.Thr373=	coding	Benign
19	46621485	G	C	G46621485C	PTGIR	NM_000960.4(PTGIR):c.956C>G:p.Ser319Trp	coding	Benign
19	46689684	G	C	G46689684C	PRKD2	NM_001079880.1(PRKD2):c.1824C>G:p.Pro608=	coding	Benign
19	46693973	C	G	C46693973G	PRKD2	NM_001079880.1(PRKD2):c.1478G>C:p.Gly493Ala	coding	Benign
19	46694142	C	T	C46694142T	PRKD2	NM_001079880.1(PRKD2):c.1318-9G>A	noncoding	Benign
19	46701084	G	A	G46701084A	PRKD2	NM_001079880.1(PRKD2):c.918C>T:p.Cys306=	coding	Benign
19	46722832	C	T	C46722832T	STRN4	NM_013403.3(STRN4):c.1884G>A:p.Thr628=	coding	Benign
19	46722858	T	C	T46722858C	STRN4	NM_013403.3(STRN4):c.1858A>G:p.Met620Val	coding	Benign
19	46736888	G	A	G46736888A	STRN4	NM_013403.3(STRN4):c.474C>T:p.Pro158=	coding	Benign
19	46746071	G	A	G46746071A	FKRP	NM_024301.5(FKRP):c.-272G>A	coding	Pathogenic
19	46748673	C	G	C46748673G	FKRP	NM_024301.5(FKRP):c.-40+8C>G	noncoding	Benign
19	46755417	C	T	C46755417T	FKRP	NM_024301.5(FKRP):c.-34C>T	noncoding	Benign
19	46755451	A	G	A46755451G	FKRP	NM_024301.5(FKRP):c.1A>G:p.Met1Val	coding	Pathogenic
19	46755527	G	A	G46755527A	FKRP	NM_024301.5(FKRP):c.77G>A:p.Trp26Ter	coding	Pathogenic/Likely_pathogenic
19	46755585	C	T	C46755585T	FKRP	NM_024301.5(FKRP):c.135C>T:p.Ala45=	coding	Benign
19	46755619	G	T	G46755619T	FKRP	NM_024301.5(FKRP):c.169G>T:p.Glu57Ter	coding	Pathogenic
19	46755642	C	T	C46755642T	FKRP	NM_024301.5(FKRP):c.192C>T:p.Pro64=	coding	Benign
19	46755699	C	T	C46755699T	FKRP	NM_024301.5(FKRP):c.249C>T:p.Ala83=	coding	Benign
19	46755714	C	A	C46755714A	FKRP	NM_024301.5(FKRP):c.264C>A:p.Tyr88Ter	coding	Pathogenic
19	46755714	C	G	C46755714G	FKRP	NM_024301.5(FKRP):c.264C>G:p.Tyr88Ter	coding	Pathogenic
19	46755716	C	T	C46755716T	FKRP	NM_024301.5(FKRP):c.266C>T:p.Pro89Leu	coding	Pathogenic/Likely_pathogenic
19	46755763	C	T	C46755763T	FKRP	NM_024301.5(FKRP):c.313C>T:p.Gln105Ter	coding	Pathogenic
19	46755877	C	A	C46755877A	FKRP	NM_024301.5(FKRP):c.427C>A:p.Arg143Ser	coding	Benign/Likely_benign
19	46755970	A	T	A46755970T	FKRP	NM_024301.5(FKRP):c.520A>T:p.Ser174Cys	coding	Benign/Likely_benign
19	46755995	A	G	A46755995G	FKRP	NM_024301.5(FKRP):c.545A>G:p.Tyr182Cys	coding	Pathogenic/Likely_pathogenic
19	46756035	C	T	C46756035T	FKRP	NM_024301.5(FKRP):c.585C>T:p.Asp195=	coding	Benign
19	46756086	G	A	G46756086A	FKRP	NM_024301.5(FKRP):c.636G>A:p.Ala212=	coding	Benign/Likely_benign
19	46756113	C	A	C46756113A	FKRP	NM_024301.5(FKRP):c.663C>A:p.Ser221Arg	coding	Pathogenic
19	46756129	G	C	G46756129C	FKRP	NM_024301.5(FKRP):c.679G>C:p.Ala227Pro	coding	Pathogenic
19	46756214	G	A	G46756214A	FKRP	NM_024301.5(FKRP):c.764G>A:p.Trp255Ter	coding	Pathogenic
19	46756272	C	G	C46756272G	FKRP	NM_024301.5(FKRP):c.822C>G:p.Ile274Met	coding	Benign/Likely_benign
19	46756276	C	A	C46756276A	FKRP	NM_024301.5(FKRP):c.826C>A:p.Leu276Ile	coding	Pathogenic
19	46756349	T	C	T46756349C	FKRP	NM_024301.5(FKRP):c.899T>C:p.Val300Ala	coding	Pathogenic/Likely_pathogenic
19	46756369	T	A	T46756369A	FKRP	NM_024301.5(FKRP):c.919T>A:p.Tyr307Asn	coding	Pathogenic/Likely_pathogenic
19	46756376	A	G	A46756376G	FKRP	NM_024301.5(FKRP):c.926A>G:p.Tyr309Cys	coding	Pathogenic
19	46756378	G	T	G46756378T	FKRP	NM_024301.5(FKRP):c.928G>T:p.Glu310Ter	coding	Pathogenic/Likely_pathogenic
19	46756391	C	T	C46756391T	FKRP	NM_024301.5(FKRP):c.941C>T:p.Thr314Met	coding	Pathogenic
19	46756397	C	G	C46756397G	FKRP	NM_024301.5(FKRP):c.947C>G:p.Pro316Arg	coding	Pathogenic/Likely_pathogenic
19	46756403	G	A	G46756403A	FKRP	NM_024301.5(FKRP):c.953G>A:p.Cys318Tyr	coding	Pathogenic
19	46756420	G	T	G46756420T	FKRP	NM_024301.5(FKRP):c.970G>T:p.Glu324Ter	coding	Pathogenic/Likely_pathogenic
19	46756470	C	T	C46756470T	FKRP	NM_024301.5(FKRP):c.1020C>T:p.Tyr340=	coding	Benign/Likely_benign
19	46756533	C	A	C46756533A	FKRP	NM_024301.5(FKRP):c.1083C>A:p.Tyr361Ter	coding	Pathogenic
19	46756533	C	G	C46756533G	FKRP	NM_024301.5(FKRP):c.1083C>G:p.Tyr361Ter	coding	Pathogenic
19	46756550	T	C	T46756550C	FKRP	NM_024301.5(FKRP):c.1100T>C:p.Ile367Thr	coding	Pathogenic/Likely_pathogenic
19	46756604	C	A	C46756604A	FKRP	NM_024301.5(FKRP):c.1154C>A:p.Ser385Ter	coding	Pathogenic
19	46756629	A	G	A46756629G	FKRP	NM_024301.5(FKRP):c.1179A>G:p.Val393=	coding	Benign/Likely_benign
19	46756663	G	T	G46756663T	FKRP	NM_024301.5(FKRP):c.1213G>T:p.Val405Leu	coding	Pathogenic
19	46756793	C	T	C46756793T	FKRP	NM_024301.5(FKRP):c.1343C>T:p.Pro448Leu	coding	Pathogenic/Likely_pathogenic
19	46756814	C	A	C46756814A	FKRP	NM_024301.5(FKRP):c.1364C>A:p.Ala455Asp	coding	Pathogenic
19	46756837	A	G	A46756837G	FKRP	NM_024301.5(FKRP):c.1387A>G:p.Asn463Asp	coding	Pathogenic
19	46756844	A	C	A46756844C	FKRP	NM_024301.5(FKRP):c.1394A>C:p.Tyr465Ser	coding	Pathogenic
19	46756883	T	C	T46756883C	FKRP	NM_024301.5(FKRP):c.1433T>C:p.Ile478Thr	coding	Pathogenic/Likely_pathogenic
19	46756890	C	T	C46756890T	FKRP	NM_024301.5(FKRP):c.1440C>T:p.Asn480=	coding	Benign/Likely_benign
19	46756936	T	A	T46756936A	FKRP	NM_024301.5(FKRP):c.1486T>A:p.Ter496Arg	coding	Pathogenic/Likely_pathogenic
19	46777006	T	G	T46777006G	SLC1A5	NM_005628.3(SLC1A5):c.1357A>C:p.Ile453Leu	coding	Benign
19	46839460	C	T	C46839460T	AP2S1	NM_004069.5(AP2S1):c.267+5G>A	noncoding	Benign
19	46846102	C	A	C46846102A	AP2S1	NM_004069.5(AP2S1):c.44G>T:p.Arg15Leu	coding	Pathogenic
19	46846102	C	T	C46846102T	AP2S1	NM_004069.5(AP2S1):c.44G>A:p.Arg15His	coding	Pathogenic
19	46846103	G	A	G46846103A	AP2S1	NM_004069.5(AP2S1):c.43C>T:p.Arg15Cys	coding	Pathogenic
19	46919050	T	C	T46919050C	ARHGAP35	NM_004491.5(ARHGAP35):c.375T>C:p.Leu125=	coding	Benign
19	46920418	G	A	G46920418A	ARHGAP35	NM_004491.5(ARHGAP35):c.1743G>A:p.Pro581=	coding	Benign
19	46922167	G	T	G46922167T	ARHGAP35	NM_004491.5(ARHGAP35):c.3492G>T:p.Arg1164=	coding	Benign
19	47066875	C	G	C47066875G	ZC3H4	NM_015168.2(ZC3H4):c.3393G>C:p.Leu1131=	coding	Benign
19	47067202	G	A	G47067202A	ZC3H4	NM_015168.2(ZC3H4):c.3066C>T:p.Asn1022=	coding	Benign
19	47072034	A	G	A47072034G	ZC3H4	NM_015168.2(ZC3H4):c.1890T>C:p.Pro630=	coding	Benign
19	47072037	A	G	A47072037G	ZC3H4	NM_015168.2(ZC3H4):c.1887T>C:p.His629=	coding	Benign
19	47081504	G	A	G47081504A	ZC3H4	NM_015168.2(ZC3H4):c.1440+9C>T	noncoding	Benign
19	47081612	C	T	C47081612T	ZC3H4	NM_015168.2(ZC3H4):c.1341G>A:p.Pro447=	coding	Benign
19	47085373	G	A	G47085373A	ZC3H4	NM_015168.2(ZC3H4):c.912C>T:p.Asp304=	coding	Benign
19	47197285	T	C	T47197285C	SAE1	NM_005500.3(SAE1):c.786T>C:p.Tyr262=	coding	Benign
19	47221779	G	A	G47221779A	BBC3	NM_014417.5(BBC3):c.*23C>T	coding	Benign
19	47320392	C	G	C47320392G	C5AR1	NM_001736.4(C5AR1):c.615C>G:p.Val205=	coding	Benign
19	47340850	G	A	G47340850A	C5AR2	NM_001271749.2(C5AR2):c.51G>A:p.Ser17=	coding	Benign
19	47341463	G	A	G47341463A	C5AR2	NM_001271749.2(C5AR2):c.664G>A:p.Ala222Thr	coding	Benign
19	47341642	C	T	C47341642T	C5AR2	NM_001271749.2(C5AR2):c.843C>T:p.Leu281=	coding	Benign
19	47341694	C	G	C47341694G	C5AR2	NM_001271749.2(C5AR2):c.895C>G:p.Leu299Val	coding	Benign
19	47341785	A	G	A47341785G	C5AR2	NM_001271749.2(C5AR2):c.986A>G:p.His329Arg	coding	Benign
19	47353279	T	C	T47353279C	DHX34	NM_014681.6(DHX34):c.249T>C:p.Pro83=	coding	Benign
19	47353286	C	T	C47353286T	DHX34	NM_014681.6(DHX34):c.256C>T:p.Pro86Ser	coding	Benign
19	47353380	G	A	G47353380A	DHX34	NM_014681.6(DHX34):c.350G>A:p.Gly117Asp	coding	Benign
19	47353538	C	T	C47353538T	DHX34	NM_014681.6(DHX34):c.508C>T:p.Arg170Cys	coding	Benign
19	47358094	G	A	G47358094A	DHX34	NM_014681.6(DHX34):c.1246G>A:p.Ala416Thr	coding	Benign
19	47362591	C	T	C47362591T	DHX34	NM_014681.6(DHX34):c.1491C>T:p.Pro497=	coding	Benign
19	47362682	T	C	T47362682C	DHX34	NM_014681.6(DHX34):c.1582T>C:p.Leu528=	coding	Benign
19	47372824	C	T	C47372824T	DHX34	NM_014681.6(DHX34):c.1863C>T:p.Ser621=	coding	Benign
19	47375483	C	T	C47375483T	DHX34	NM_014681.6(DHX34):c.2082C>T:p.His694=	coding	Benign
19	47375585	C	T	C47375585T	DHX34	NM_014681.6(DHX34):c.2184C>T:p.His728=	coding	Benign
19	47375620	G	A	G47375620A	DHX34	NM_014681.6(DHX34):c.2219G>A:p.Arg740Gln	coding	Benign
19	47376065	G	A	G47376065A	DHX34	NM_014681.6(DHX34):c.2449G>A:p.Ala817Thr	coding	Benign
19	47381206	C	T	C47381206T	DHX34	NM_014681.6(DHX34):c.3180C>T:p.Ser1060=	coding	Benign
19	47381977	T	C	T47381977C	DHX34	NM_014681.6(DHX34):c.3299-3T>C	noncoding	Benign
19	47415084	C	T	C47415084T	MEIS3	NM_001301059.2(MEIS3):c.414G>A:p.Gln138=	coding	Benign
19	47416947	G	T	G47416947T	MEIS3	NM_001301059.2(MEIS3):c.202C>A:p.Leu68Ile	coding	Benign
19	47465783	G	A	G47465783A	SLC8A2	NM_015063.3(SLC8A2):c.621C>T:p.Phe207=	coding	Benign
19	47475482	C	T	C47475482T	KPTN	NM_007059.4(KPTN):c.1245G>A:p.Arg415=	coding	Benign
19	47476658	G	A	G47476658A	KPTN	NM_007059.4(KPTN):c.1056C>T:p.His352=	coding	Benign
19	47479874	G	T	G47479874T	KPTN	NM_007059.4(KPTN):c.776C>A:p.Ser259Ter	coding	Pathogenic
19	47479917	G	C	G47479917C	KPTN	NM_007059.4(KPTN):c.733C>G:p.Leu245Val	coding	Benign
19	47480376	C	G	C47480376G	KPTN	NM_007059.4(KPTN):c.631G>C:p.Gly211Arg	coding	Benign/Likely_benign
19	47480413	G	A	G47480413A	KPTN	NM_007059.4(KPTN):c.600-6C>T	noncoding	Benign
19	47480801	G	C	G47480801C	KPTN	NM_007059.4(KPTN):c.558C>G:p.Pro186=	coding	Benign
19	47480979	C	T	C47480979T	KPTN	NM_007059.4(KPTN):c.504G>A:p.Pro168=	coding	Benign
19	47481031	A	G	A47481031G	KPTN	NM_007059.4(KPTN):c.452T>C:p.Val151Ala	coding	Benign
19	47682162	C	T	C47682162T	BICRA	NM_015711.3(BICRA):c.2283+10C>T	noncoding	Benign
19	47702199	C	T	C47702199T	BICRA	NM_015711.3(BICRA):c.4467C>T:p.Ser1489=	coding	Benign
19	47750197	C	G	C47750197G	NOP53	NM_015710.5(NOP53):c.309C>G:p.Thr103=	coding	Benign
19	47752556	G	A	G47752556A	NOP53	NM_015710.5(NOP53):c.714G>A:p.Val238=	coding	Benign
19	47754550	G	A	G47754550A	NOP53	NM_015710.5(NOP53):c.789G>A:p.Glu263=	coding	Benign
19	47821930	T	C	T47821930C	CRX	NM_000554.5(CRX):c.-116T>C	noncoding	Benign
19	47822007	G	C	G47822007C	CRX	NM_000554.6(CRX):c.-39G>C	noncoding	Benign/Likely_benign
19	47834555	C	T	C47834555T	CRX	NM_000554.6(CRX):c.100+12C>T	noncoding	Benign
19	47836231	A	G	A47836231G	CRX	NM_000554.6(CRX):c.101-12A>G	noncoding	Benign
19	47836244	C	T	C47836244T	CRX	NM_000554.6(CRX):c.102C>T:p.Ser34=	coding	Benign/Likely_benign
19	47836263	C	T	C47836263T	CRX	NM_000554.6(CRX):c.121C>T:p.Arg41Trp	coding	Pathogenic
19	47836264	G	A	G47836264A	CRX	NM_000554.6(CRX):c.122G>A:p.Arg41Gln	coding	Pathogenic/Likely_pathogenic
19	47836335	G	C	G47836335C	CRX	NM_000554.6(CRX):c.193G>C:p.Asp65His	coding	Pathogenic
19	47836338	G	A	G47836338A	CRX	NM_000554.6(CRX):c.196G>A:p.Val66Ile	coding	Benign/Likely_benign
19	47836347	C	T	C47836347T	CRX	NM_000554.6(CRX):c.205C>T:p.Arg69Cys	coding	Pathogenic
19	47836381	A	C	A47836381C	CRX	NM_000554.6(CRX):c.239A>C:p.Glu80Ala	coding	Pathogenic
19	47836381	A	G	A47836381G	CRX	NM_000554.6(CRX):c.239A>G:p.Glu80Gly	coding	Pathogenic
19	47839341	G	A	G47839341A	CRX	NM_000554.6(CRX):c.274G>A:p.Ala92Thr	coding	Pathogenic/Likely_pathogenic
19	47839343	T	G	T47839343G	CRX	NM_000554.6(CRX):c.276T>G:p.Ala92=	coding	Benign
19	47839359	C	T	C47839359T	CRX	NM_000554.6(CRX):c.292C>T:p.Arg98Ter	coding	Pathogenic
19	47839380	C	T	C47839380T	CRX	NM_000554.6(CRX):c.313C>T:p.Gln105Ter	coding	Pathogenic
19	47839432	G	A	G47839432A	CRX	NM_000554.6(CRX):c.365G>A:p.Gly122Asp	coding	Benign/Likely_benign
19	47839516	C	G	C47839516G	CRX	NM_000554.6(CRX):c.449C>G:p.Ser150Ter	coding	Pathogenic
19	47839539	G	A	G47839539A	CRX	NM_000554.6(CRX):c.472G>A:p.Ala158Thr	coding	Benign/Likely_benign
19	47839556	G	A	G47839556A	CRX	NM_000554.6(CRX):c.489G>A:p.Trp163Ter	coding	Pathogenic
19	47839590	C	T	C47839590T	CRX	NM_000554.6(CRX):c.523C>T:p.Gln175Ter	coding	Pathogenic
19	47839618	C	T	C47839618T	CRX	NM_000554.6(CRX):c.551C>T:p.Pro184Leu	coding	Benign/Likely_benign
19	47839652	C	A	C47839652A	CRX	NM_000554.6(CRX):c.585C>A:p.Tyr195Ter	coding	Pathogenic
19	47839658	G	A	G47839658A	CRX	NM_000554.6(CRX):c.591G>A:p.Pro197=	coding	Benign
19	47839685	C	T	C47839685T	CRX	NM_000554.6(CRX):c.618C>T:p.Ser206=	coding	Benign/Likely_benign
19	47839791	G	A	G47839791A	CRX	NM_000554.6(CRX):c.724G>A:p.Val242Met	coding	Benign/Likely_benign
19	47839986	C	T	C47839986T	CRX	NM_000554.6(CRX):c.*19C>T	noncoding	Benign/Likely_benign
19	47840367	A	T	A47840367T	CRX	NM_000554.6(CRX):c.*400A>T	noncoding	Benign
19	47840368	A	C	A47840368C	CRX	NM_000554.6(CRX):c.*401A>C	noncoding	Benign
19	47841030	C	T	C47841030T	CRX	NM_000554.6(CRX):c.*1063C>T	noncoding	Benign/Likely_benign
19	47841089	G	C	G47841089C	CRX	NM_000554.6(CRX):c.*1122G>C	noncoding	Benign
19	47841187	G	A	G47841187A	CRX	NM_000554.6(CRX):c.*1220G>A	noncoding	Benign/Likely_benign
19	47841256	G	A	G47841256A	CRX	NM_000554.6(CRX):c.*1289G>A	noncoding	Benign
19	47841313	G	A	G47841313A	CRX	NM_000554.6(CRX):c.*1346G>A	noncoding	Benign
19	47841422	T	A	T47841422A	CRX	NM_000554.6(CRX):c.*1455T>A	noncoding	Benign
19	47841638	G	A	G47841638A	CRX	NM_000554.6(CRX):c.*1671G>A	noncoding	Benign/Likely_benign
19	47841759	C	T	C47841759T	CRX	NM_000554.6(CRX):c.*1792C>T	noncoding	Benign
19	47841928	G	A	G47841928A	CRX	NM_000554.6(CRX):c.*1961G>A	noncoding	Benign/Likely_benign
19	47841984	C	T	C47841984T	CRX	NM_000554.6(CRX):c.*2017C>T	noncoding	Benign/Likely_benign
19	47842073	C	T	C47842073T	CRX	NM_000554.6(CRX):c.*2106C>T	noncoding	Benign
19	47842122	G	A	G47842122A	CRX	NM_000554.6(CRX):c.*2155G>A	noncoding	Benign
19	47842138	C	T	C47842138T	CRX	NM_000554.6(CRX):c.*2171C>T	noncoding	Benign
19	47842150	T	C	T47842150C	CRX	NM_000554.6(CRX):c.*2183T>C	noncoding	Benign
19	47842266	C	T	C47842266T	CRX	NM_000554.6(CRX):c.*2299C>T	noncoding	Benign/Likely_benign
19	47842526	G	C	G47842526C	CRX	NM_000554.6(CRX):c.*2559G>C	noncoding	Benign
19	47842671	C	T	C47842671T	CRX	NM_000554.6(CRX):c.*2704C>T	noncoding	Benign
19	47842684	G	T	G47842684T	CRX	NM_000554.6(CRX):c.*2717G>T	noncoding	Benign
19	47842725	C	A	C47842725A	CRX	NM_000554.6(CRX):c.*2758C>A	noncoding	Benign/Likely_benign
19	47842904	T	C	T47842904C	CRX	NM_000554.6(CRX):c.*2937T>C	noncoding	Benign
19	47842984	C	T	C47842984T	CRX	NM_000554.6(CRX):c.*3017C>T	noncoding	Benign
19	47843084	A	G	A47843084G	CRX	NM_000554.6(CRX):c.*3117A>G	noncoding	Benign/Likely_benign
19	47843205	G	A	G47843205A	CRX	NM_000554.6(CRX):c.*3238G>A	noncoding	Benign
19	47843246	C	T	C47843246T	CRX	NM_000554.6(CRX):c.*3279C>T	noncoding	Benign
19	47843252	C	G	C47843252G	CRX	NM_000554.6(CRX):c.*3285C>G	noncoding	Benign
19	47843268	T	C	T47843268C	CRX	NM_000554.6(CRX):c.*3301T>C	noncoding	Benign
19	47883664	T	G	T47883664G	SULT2A1	NM_003167.4(SULT2A1):c.258A>C:p.Ala86=	coding	Benign
19	47883735	C	G	C47883735G	SULT2A1	NM_003167.4(SULT2A1):c.187G>C:p.Ala63Pro	coding	Benign
19	48062024	C	T	C48062024T	PLA2G4C	NM_003706.3(PLA2G4C):c.1231G>A:p.Asp411Asn	coding	Benign
19	48074825	A	G	A48074825G	PLA2G4C	NM_003706.3(PLA2G4C):c.948T>C:p.Asn316=	coding	Benign
19	48098226	G	C	G48098226C	PLA2G4C	NM_003706.3(PLA2G4C):c.481C>G:p.Pro161Ala	coding	Benign
19	48099719	A	G	A48099719G	PLA2G4C	NM_003706.3(PLA2G4C):c.399T>C:p.Ser133=	coding	Benign
19	48117779	C	G	C48117779G	LIG1	NM_000234.3(LIG1):c.2442G>C:p.Ala814=	coding	Benign
19	48119170	A	G	A48119170G	LIG1	NM_000234.3(LIG1):c.2406T>C:p.Asp802=	coding	Benign
19	48121269	G	A	G48121269A	LIG1	NM_000234.3(LIG1):c.2286C>T:p.Ile762=	coding	Benign
19	48121298	C	T	C48121298T	LIG1	NM_000234.3(LIG1):c.2257G>A:p.Val753Met	coding	Benign
19	48123293	C	A	C48123293A	LIG1	NM_000234.3(LIG1):c.2030G>T:p.Arg677Leu	coding	Benign
19	48131062	T	A	T48131062A	LIG1	NM_000234.3(LIG1):c.1821+14A>T	noncoding	Benign
19	48137645	G	A	G48137645A	LIG1	NM_000234.3(LIG1):c.1131C>T:p.Gly377=	coding	Benign
19	48151296	G	T	G48151296T	LIG1	NM_000234.3(LIG1):c.510C>A:p.Ala170=	coding	Benign
19	48151299	C	T	C48151299T	LIG1	NM_000234.3(LIG1):c.507G>A:p.Val169=	coding	Benign
19	48161475	G	A	G48161475A	LIG1	NM_000234.3(LIG1):c.140C>T:p.Ser47Phe	coding	Benign
19	48162298	G	A	G48162298A	LIG1	NM_000234.3(LIG1):c.71C>T:p.Ala24Val	coding	Benign
19	48165538	G	A	G48165538A	LIG1	NM_000234.3(LIG1):c.17+12C>T	noncoding	Benign
19	48165573	G	A	G48165573A	LIG1	NM_000234.3(LIG1):c.-7C>T	noncoding	Benign
19	48211908	G	A	G48211908A	CARD8	NM_001184900.3(CARD8):c.1416C>T:p.Leu472=	coding	Benign
19	48221805	C	T	C48221805T	CARD8	NM_001184900.3(CARD8):c.1086G>A:p.Ser362=	coding	Benign
19	48230957	C	T	C48230957T	CARD8	NM_001184900.3(CARD8):c.592G>A:p.Gly198Ser	coding	Benign
19	48286244	T	C	T48286244C	ZNF114	NM_153608.4(ZNF114):c.620T>C:p.Val207Ala	coding	Benign
19	48286338	A	G	A48286338G	ZNF114	NM_153608.4(ZNF114):c.714A>G:p.Ala238=	coding	Benign
19	48296961	T	C	T48296961C	ODAD1	NM_001364171.2(ODAD1):c.*15A>G	noncoding	Benign
19	48297073	C	T	C48297073T	ODAD1	NM_001364171.2(ODAD1):c.2027G>A:p.Ser676Asn	coding	Benign
19	48297076	G	A	G48297076A	ODAD1	NM_001364171.2(ODAD1):c.2024C>T:p.Ser675Leu	coding	Benign
19	48297081	A	G	A48297081G	ODAD1	NM_001364171.2(ODAD1):c.2019T>C:p.Ser673=	coding	Benign
19	48297234	G	A	G48297234A	ODAD1	NM_001364171.2(ODAD1):c.1866C>T:p.His622=	coding	Benign
19	48297312	G	A	G48297312A	ODAD1	NM_001364171.2(ODAD1):c.1788C>T:p.His596=	coding	Benign/Likely_benign
19	48297363	G	A	G48297363A	ODAD1	NM_001364171.2(ODAD1):c.1737C>T:p.Pro579=	coding	Benign
19	48297420	G	T	G48297420T	ODAD1	NM_001364171.2(ODAD1):c.1680C>A:p.Thr560=	coding	Benign
19	48297428	C	T	C48297428T	ODAD1	NM_001364171.2(ODAD1):c.1672G>A:p.Ala558Thr	coding	Benign
19	48297450	G	A	G48297450A	ODAD1	NM_001364171.2(ODAD1):c.1650C>T:p.Asp550=	coding	Benign/Likely_benign
19	48297464	C	T	C48297464T	ODAD1	NM_001364171.2(ODAD1):c.1636G>A:p.Ala546Thr	coding	Benign
19	48297468	G	A	G48297468A	ODAD1	NM_001364171.2(ODAD1):c.1632C>T:p.Ala544=	coding	Benign
19	48297470	C	T	C48297470T	ODAD1	NM_001364171.2(ODAD1):c.1630G>A:p.Ala544Thr	coding	Benign
19	48297492	C	T	C48297492T	ODAD1	NM_001364171.2(ODAD1):c.1608G>A:p.Ala536=	coding	Benign
19	48297494	C	A	C48297494A	ODAD1	NM_001364171.2(ODAD1):c.1606G>T:p.Ala536Ser	coding	Benign
19	48297534	A	G	A48297534G	ODAD1	NM_001364171.2(ODAD1):c.1582-16T>C	noncoding	Benign
19	48297657	G	A	G48297657A	ODAD1	NM_001364171.2(ODAD1):c.1514C>T:p.Pro505Leu	coding	Benign
19	48297995	C	T	C48297995T	ODAD1	NM_001364171.2(ODAD1):c.1502+5G>A	noncoding	Pathogenic/Likely_pathogenic
19	48298077	G	A	G48298077A	ODAD1	NM_001364171.2(ODAD1):c.1425C>T:p.Asp475=	coding	Benign/Likely_benign
19	48298157	G	T	G48298157T	ODAD1	NM_001364171.2(ODAD1):c.1404+20C>A	noncoding	Benign
19	48298169	T	C	T48298169C	ODAD1	NM_001364171.2(ODAD1):c.1404+8A>G	noncoding	Benign
19	48298306	G	A	G48298306A	ODAD1	NM_001364171.2(ODAD1):c.1275C>T:p.Asp425=	coding	Benign
19	48302720	C	T	C48302720T	ODAD1	NM_001364171.2(ODAD1):c.1214G>A:p.Arg405Gln	coding	Benign
19	48302758	C	T	C48302758T	ODAD1	NM_001364171.2(ODAD1):c.1176G>A:p.Ser392=	coding	Benign
19	48302837	C	T	C48302837T	ODAD1	NM_001364171.2(ODAD1):c.1097G>A:p.Arg366His	coding	Benign
19	48303013	C	T	C48303013T	ODAD1	NM_001364171.2(ODAD1):c.1071G>A:p.Glu357=	coding	Benign
19	48303720	G	A	G48303720A	ODAD1	NM_001364171.2(ODAD1):c.918C>T:p.Asp306=	coding	Benign
19	48303782	C	T	C48303782T	ODAD1	NM_001364171.2(ODAD1):c.856G>A:p.Gly286Arg	coding	Benign/Likely_benign
19	48303953	C	T	C48303953T	ODAD1	NM_001364171.2(ODAD1):c.853G>A:p.Ala285Thr	coding	Pathogenic
19	48303981	G	A	G48303981A	ODAD1	NM_001364171.2(ODAD1):c.825C>T:p.Pro275=	coding	Benign
19	48303998	C	T	C48303998T	ODAD1	NM_001364171.2(ODAD1):c.808G>A:p.Asp270Asn	coding	Benign
19	48304076	C	T	C48304076T	ODAD1	NM_001364171.2(ODAD1):c.730G>A:p.Glu244Lys	coding	Benign
19	48304098	C	T	C48304098T	ODAD1	NM_001364171.2(ODAD1):c.708G>A:p.Ala236=	coding	Benign
19	48304110	C	A	C48304110A	ODAD1	NM_001364171.2(ODAD1):c.696G>T:p.Leu232=	coding	Benign
19	48304144	C	T	C48304144T	ODAD1	NM_001364171.2(ODAD1):c.666-4G>A	noncoding	Benign
19	48306325	T	C	T48306325C	ODAD1	NM_001364171.2(ODAD1):c.598-2A>G	noncoding	Pathogenic
19	48306328	G	T	G48306328T	ODAD1	NM_001364171.2(ODAD1):c.598-5C>A	noncoding	Benign
19	48311552	C	T	C48311552T	ODAD1	NM_001364171.2(ODAD1):c.597+1G>A	noncoding	Pathogenic
19	48311568	G	A	G48311568A	ODAD1	NM_001364171.2(ODAD1):c.582C>T:p.Asp194=	coding	Benign/Likely_benign
19	48311628	C	T	C48311628T	ODAD1	NM_001364171.2(ODAD1):c.522G>A:p.Ala174=	coding	Benign
19	48318481	C	G	C48318481G	ODAD1	NM_001364171.2(ODAD1):c.266G>C:p.Arg89Pro	coding	Benign
19	48318500	G	A	G48318500A	ODAD1	NM_001364171.2(ODAD1):c.247C>T:p.Arg83Trp	coding	Benign
19	48318562	C	T	C48318562T	ODAD1	NM_001364171.2(ODAD1):c.185G>A:p.Arg62His	coding	Benign
19	48404958	C	G	C48404958G	GRIN2D	NM_000836.2(GRIN2D):c.690C>G:p.Ala230=	coding	Benign
19	48414084	C	T	C48414084T	GRIN2D	NM_000836.2(GRIN2D):c.1179C>T:p.Thr393=	coding	Benign
19	48414517	G	A	G48414517A	GRIN2D	NM_000836.2(GRIN2D):c.1345G>A:p.Asp449Asn	coding	Pathogenic
19	48415002	C	T	C48415002T	GRIN2D	NM_000836.2(GRIN2D):c.1551C>T:p.Ile517=	coding	Benign
19	48416061	C	T	C48416061T	GRIN2D	NM_000836.2(GRIN2D):c.1641C>T:p.Ser547=	coding	Benign
19	48419721	C	T	C48419721T	GRIN2D	NM_000836.2(GRIN2D):c.1998C>T:p.Ala666=	coding	Benign
19	48419722	G	A	G48419722A	GRIN2D	NM_000836.2(GRIN2D):c.1999G>A:p.Val667Ile	coding	Pathogenic
19	48419766	G	C	G48419766C	GRIN2D	NM_000836.2(GRIN2D):c.2043G>C:p.Met681Ile	coding	Pathogenic
19	48419803	A	C	A48419803C	GRIN2D	NM_000836.2(GRIN2D):c.2080A>C:p.Ser694Arg	coding	Pathogenic
19	48441787	C	T	C48441787T	GRIN2D	NM_000836.2(GRIN2D):c.2271C>T:p.Ile757=	coding	Benign
19	48443289	G	C	G48443289C	GRIN2D	NM_000836.2(GRIN2D):c.3363G>C:p.Leu1121=	coding	Benign
19	48491100	T	G	T48491100G	LMTK3	NM_001080434.1(LMTK3):c.4453+8A>C	noncoding	Benign
19	48501087	G	A	G48501087A	LMTK3	NM_001080434.1(LMTK3):c.1147C>T:p.Leu383=	coding	Benign
19	48501342	G	T	G48501342T	LMTK3	NM_001080434.1(LMTK3):c.1029C>A:p.Leu343=	coding	Benign
19	48502590	G	C	G48502590C	LMTK3	NM_001080434.1(LMTK3):c.733-9C>G	noncoding	Benign
19	48502945	C	T	C48502945T	LMTK3	NM_001080434.1(LMTK3):c.696G>A:p.Thr232=	coding	Benign
19	48552267	C	T	C48552267T	SULT2B1	NM_177973.2(SULT2B1):c.15C>T:p.Ala5=	coding	Benign
19	48552325	T	A	T48552325A	SULT2B1	NM_177973.2(SULT2B1):c.71+2T>A	noncoding	Pathogenic
19	48575967	G	A	G48575967A	SULT2B1	NM_177973.2(SULT2B1):c.98G>A:p.Arg33Gln	coding	Benign
19	48576021	T	C	T48576021C	SULT2B1	NM_177973.2(SULT2B1):c.152T>C:p.Leu51Ser	coding	Benign
19	48587223	C	G	C48587223G	SULT2B1	NM_177973.2(SULT2B1):c.215-6C>G	noncoding	Benign
19	48591631	C	T	C48591631T	SULT2B1	NM_177973.2(SULT2B1):c.446C>T:p.Pro149Leu	coding	Pathogenic
19	48591686	G	A	G48591686A	SULT2B1	NM_177973.2(SULT2B1):c.501G>A:p.Lys167=	coding	Benign
19	48592741	C	T	C48592741T	SULT2B1	NM_177973.2(SULT2B1):c.570C>T:p.Phe190=	coding	Benign
19	48596914	G	A	G48596914A	SULT2B1	NM_177973.2(SULT2B1):c.821G>A:p.Arg274Gln	coding	Pathogenic
19	48596922	G	A	G48596922A	SULT2B1	NM_177973.2(SULT2B1):c.826+3G>A	noncoding	Benign
19	48616830	G	A	G48616830A	RPL18	NM_000979.4(RPL18):c.199-6C>T	noncoding	Benign
19	48617362	A	G	A48617362G	RPL18	NM_000979.4(RPL18):c.152T>C:p.Leu51Ser	coding	Pathogenic
19	48617875	T	C	T48617875C	RPL18	NM_000979.4(RPL18):c.6A>G:p.Gly2=	coding	Benign
19	48626296	G	A	G48626296A	SPHK2	NM_020126.5(SPHK2):c.445G>A:p.Glu149Lys	coding	Benign
19	48628060	G	T	G48628060T	SPHK2	NM_020126.5(SPHK2):c.747G>T:p.Leu249=	coding	Benign
19	48628948	C	T	C48628948T	SPHK2	NM_020126.5(SPHK2):c.1140C>T:p.Pro380=	coding	Benign
19	48629324	G	T	G48629324T	SPHK2	NM_020126.5(SPHK2):c.1516G>T:p.Ala506Ser	coding	Benign
19	48629769	C	A	C48629769A	SPHK2	NM_020126.5(SPHK2):c.1961C>A:p.Pro654His	coding	Benign
19	48630903	C	T	C48630903T	DBP	NM_001352.5(DBP):c.912G>A:p.Val304=	coding	Benign
19	48703029	A	G	A48703029G	FUT2	NM_000511.6(FUT2):c.73A>G:p.Ile25Val	coding	Benign
19	48703364	A	G	A48703364G	FUT2	NM_000511.6(FUT2):c.408A>G:p.Glu136=	coding	Benign
19	48703374	A	T	A48703374T	FUT2	NM_000511.6(FUT2):c.418A>T:p.Ile140Phe	coding	Benign
19	48703560	C	T	C48703560T	FUT2	NM_000511.6(FUT2):c.604C>T:p.Arg202Ter	coding	Pathogenic
19	48703838	G	A	G48703838A	FUT2	NM_000511.6(FUT2):c.882G>A:p.Trp294Ter	coding	Benign
19	48750456	G	A	G48750456A	FUT1	NM_001329877.1(FUT1):c.826C>T:p.Gln276Ter	coding	Pathogenic
19	48750791	A	T	A48750791T	FUT1	NM_001329877.1(FUT1):c.491T>A:p.Leu164His	coding	Pathogenic
19	48750933	G	A	G48750933A	FUT1	NM_001329877.1(FUT1):c.349C>T:p.His117Tyr	coding	Pathogenic
19	48751225	G	C	G48751225C	FUT1	NM_001329877.1(FUT1):c.57C>G:p.Leu19=	coding	Benign
19	48756248	C	T	C48756248T	FGF21	NM_019113.4(FGF21):c.12C>T:p.Asp4=	coding	Benign
19	48758211	C	T	C48758211T	FGF21	NM_019113.4(FGF21):c.621C>T:p.Tyr207=	coding	Benign
19	48797243	G	A	G48797243A	BCAT2	NM_001190.4(BCAT2):c.786C>T:p.Leu262=	coding	Benign
19	48800003	C	T	C48800003T	BCAT2	NM_001190.4(BCAT2):c.509G>A:p.Arg170Gln	coding	Pathogenic
19	48806519	G	C	G48806519C	BCAT2	NM_001190.4(BCAT2):c.298C>G:p.Gln100Glu	coding	Benign
19	48873785	G	A	G48873785A	PPP1R15A	NM_014330.3(PPP1R15A):c.552G>A:p.Arg184=	coding	Benign
19	48875607	C	T	C48875607T	PPP1R15A	NM_014330.3(PPP1R15A):c.1666-7C>T	noncoding	Benign
19	48955799	G	A	G48955799A	BAX	NM_138761.4(BAX):c.199G>A:p.Gly67Arg	coding	Pathogenic
19	48956270	C	T	C48956270T	BAX	NM_138761.4(BAX):c.306C>T:p.Asp102=	coding	Benign
19	48965340	G	A	G48965340A	FTL	NM_000146.4(FTL):c.-168G>A	noncoding	Pathogenic
19	48965340	G	C	G48965340C	FTL	NM_000146.4(FTL):c.-168G>C	noncoding	Pathogenic
19	48965340	G	T	G48965340T	FTL	NM_000146.4(FTL):c.-168G>T	noncoding	Pathogenic
19	48965341	C	T	C48965341T	FTL	NM_000146.4(FTL):c.-167C>T	noncoding	Pathogenic
19	48965344	C	A	C48965344A	FTL	NM_000146.4(FTL):c.-164C>A	noncoding	Pathogenic
19	48965344	C	T	C48965344T	FTL	NM_000146.4(FTL):c.-164C>T	noncoding	Pathogenic
19	48965347	C	T	C48965347T	FTL	NM_000146.4(FTL):c.-161C>T	noncoding	Pathogenic
19	48965348	A	G	A48965348G	FTL	NM_000146.4(FTL):c.-160A>G	noncoding	Pathogenic
19	48965349	G	C	G48965349C	FTL	NM_000146.4(FTL):c.-159G>C	noncoding	Pathogenic
19	48965351	G	A	G48965351A	FTL	NM_000146.4(FTL):c.-157G>A	noncoding	Pathogenic
19	48965359	G	C	G48965359C	FTL	NM_000146.4(FTL):c.-149G>C	noncoding	Pathogenic
19	48965508	A	G	A48965508G	FTL	NM_000146.4(FTL):c.1A>G:p.Met1Val	coding	Pathogenic
19	48965580	C	T	C48965580T	FTL	NM_000146.4(FTL):c.73C>T:p.Leu25=	coding	Benign
19	48965596	C	T	C48965596T	FTL	NM_000146.4(FTL):c.89C>T:p.Thr30Ile	coding	Pathogenic
19	48965756	A	G	A48965756G	FTL	NM_000146.4(FTL):c.103-14A>G	noncoding	Benign
19	48965830	T	C	T48965830C	FTL;GYS1	NM_000146.4(FTL):c.163T>C:p.Leu55=	coding	Benign
19	48965836	G	A	G48965836A	FTL	NM_000146.4(FTL):c.169G>A:p.Glu57Lys	coding	Benign/Likely_benign
19	48965901	C	T	C48965901T	FTL	NM_000146.4(FTL):c.234C>T:p.Leu78=	coding	Benign
19	48966317	G	A	G48966317A	FTL	NM_000146.4(FTL):c.286G>A:p.Ala96Thr	coding	Pathogenic
19	48966341	G	T	G48966341T	FTL	NM_000146.4(FTL):c.310G>T:p.Glu104Ter	coding	Pathogenic
19	48966729	C	T	C48966729T	FTL	NM_000146.4(FTL):c.522C>T:p.His174=	coding	Benign/Likely_benign
19	48966759	C	T	C48966759T	FTL	NM_000146.4(FTL):c.*24C>T	noncoding	Benign
19	48968563	G	A	G48968563A	FTL;GYS1	NM_002103.5(GYS1):c.*725C>T	noncoding	Benign/Likely_benign
19	48969576	C	T	C48969576T	FTL;GYS1	NM_002103.5(GYS1):c.1926G>A:p.Val642=	coding	Benign/Likely_benign
19	48970606	G	A	G48970606A	GYS1	NM_002103.5(GYS1):c.1749C>T:p.Ile583=	coding	Benign
19	48970606	G	T	G48970606T	FTL;GYS1	NM_002103.5(GYS1):c.1749C>A:p.Ile583=	coding	Benign/Likely_benign
19	48970770	A	T	A48970770T	GYS1	NM_002103.5(GYS1):c.1646-61T>A	noncoding	Benign
19	48970958	C	A	C48970958A	GYS1	NM_002103.5(GYS1):c.1615G>T:p.Glu539Ter	coding	Pathogenic
19	48974206	C	T	C48974206T	GYS1	NM_002103.5(GYS1):c.1549+7G>A	noncoding	Benign
19	48974217	T	C	T48974217C	GYS1	NM_002103.5(GYS1):c.1545A>G:p.Thr515=	coding	Benign/Likely_benign
19	48974658	G	A	G48974658A	GYS1	NM_002103.5(GYS1):c.1384C>T:p.Arg462Ter	coding	Pathogenic
19	48977986	T	C	T48977986C	GYS1	NM_002103.5(GYS1):c.1246A>G:p.Met416Val	coding	Benign/Likely_benign
19	48981818	C	T	C48981818T	GYS1	NM_002103.5(GYS1):c.1063-182G>A	noncoding	Benign
19	48982291	G	A	G48982291A	GYS1	NM_002103.5(GYS1):c.1026C>T:p.Phe342=	coding	Benign
19	48982330	G	A	G48982330A	GYS1	NM_002103.5(GYS1):c.987C>T:p.Ala329=	coding	Benign
19	48982462	G	T	G48982462T	GYS1	NM_002103.5(GYS1):c.942-87C>A	noncoding	Benign
19	48982501	C	T	C48982501T	GYS1	NM_002103.5(GYS1):c.942-126G>A	noncoding	Benign
19	48982754	G	A	G48982754A	GYS1	NM_002103.5(GYS1):c.907C>T:p.Arg303Ter	coding	Pathogenic
19	48985591	C	T	C48985591T	GYS1	NM_002103.5(GYS1):c.693G>A:p.Lys231=	coding	Benign
19	48985972	C	T	C48985972T	GYS1	NM_002103.5(GYS1):c.556G>A:p.Val186Ile	coding	Benign
19	48985973	G	A	G48985973A	GYS1	NM_002103.5(GYS1):c.555C>T:p.Gly185=	coding	Benign/Likely_benign
19	48986057	C	A	C48986057A	GYS1	NM_002103.5(GYS1):c.493-22G>T	noncoding	Benign
19	48987185	G	A	G48987185A	GYS1	NM_002103.5(GYS1):c.492+9C>T	noncoding	Benign
19	48987266	T	C	T48987266C	GYS1	NM_002103.5(GYS1):c.420A>G:p.Gly140=	coding	Benign
19	48987332	G	A	G48987332A	GYS1	NM_002103.5(GYS1):c.354C>T:p.Asp118=	coding	Benign
19	48991294	C	T	C48991294T	GYS1	NM_002103.5(GYS1):c.300+8G>A	noncoding	Benign/Likely_benign
19	48991368	T	C	T48991368C	GYS1	NM_002103.5(GYS1):c.234A>G:p.Glu78=	coding	Benign/Likely_benign
19	48991395	C	T	C48991395T	GYS1	NM_002103.5(GYS1):c.207G>A:p.Thr69=	coding	Benign/Likely_benign
19	48991555	C	T	C48991555T	GYS1	NM_002103.5(GYS1):c.119-72G>A	noncoding	Benign
19	48993131	G	T	G48993131T	GYS1	NM_002103.5(GYS1):c.-19C>A	noncoding	Benign
19	48993237	G	A	G48993237A	GYS1	NM_002103.5(GYS1):c.-125C>T	noncoding	Benign
19	48993294	A	C	A48993294C	GYS1	NM_002103.5(GYS1):c.-182T>G	noncoding	Benign
19	49009880	C	T	C49009880T	RUVBL2	NM_006666.3(RUVBL2):c.567C>T:p.Ala189=	coding	Benign
19	49010042	C	T	C49010042T	RUVBL2	NM_006666.3(RUVBL2):c.639C>T:p.Arg213=	coding	Benign
19	49011063	C	T	C49011063T	RUVBL2	NM_006666.3(RUVBL2):c.852C>T:p.Arg284=	coding	Benign
19	49015102	C	T	C49015102T	RUVBL2	NM_006666.3(RUVBL2):c.1203C>T:p.Tyr401=	coding	Benign
19	49016079	G	A	G49016079A	LHB	NM_000894.3(LHB):c.415C>T:p.Leu139Phe	coding	Benign
19	49016261	G	T	G49016261T	LHB	NM_000894.3(LHB):c.233C>A:p.Thr78Asn	coding	Benign
19	49016263	G	A	G49016263A	LHB	NM_000894.3(LHB):c.231C>T:p.Cys77=	coding	Benign
19	49016273	T	C	T49016273C	LHB	NM_000894.2(LHB):c.221A>G:p.Gln74Arg	coding	Pathogenic
19	49016294	G	C	G49016294C	LHB	NM_000894.3(LHB):c.200C>G:p.Ala67Gly	coding	Benign
19	49016305	G	C	G49016305C	LHB	NM_000894.3(LHB):c.189C>G:p.Arg63=	coding	Benign
19	49016536	A	G	A49016536G	LHB	NM_000894.2(LHB):c.183+11T>C	noncoding	Benign
19	49016546	C	A	C49016546A	LHB	NM_000894.2(LHB):c.183+1G>T	noncoding	Pathogenic
19	49016546	C	G	C49016546G	LHB	NM_000894.2(LHB):c.183+1G>C	noncoding	Pathogenic
19	49016563	C	T	C49016563T	LHB	NM_000894.2(LHB):c.167G>A:p.Gly56Asp	coding	Pathogenic
19	49016598	T	G	T49016598G	LHB	NM_000894.2(LHB):c.132A>C:p.Pro44=	coding	Benign
19	49016616	G	C	G49016616C	LHB	NM_000894.2(LHB):c.114C>G:p.Val38=	coding	Benign
19	49016626	A	G	A49016626G	LHB	NM_000894.2(LHB):c.104T>C:p.Ile35Thr	coding	Benign
19	49016740	A	G	A49016740G	LHB	NM_000894.2(LHB):c.16-26T>C	noncoding	Benign
19	49017058	T	C	T49017058C	LHB	NM_000894.3(LHB):c.15+9A>G	noncoding	Benign
19	49033133	C	A	C49033133A	CGB2	NM_033378.1(CGB2):c.404C>A:p.Ala135Asp	coding	Benign
19	49044633	G	A	G49044633A	CGB5	NM_033043.2(CGB5):c.72G>A:p.Pro24=	coding	Benign
19	49061381	C	T	C49061381T	NTF4	NM_006179.4(NTF4):c.617G>A:p.Arg206Gln	coding	Pathogenic
19	49061795	C	T	C49061795T	NTF4	NM_006179.4(NTF4):c.203G>A:p.Arg68Gln	coding	Benign
19	49118344	C	G	C49118344G	LIN7B	NM_022165.3(LIN7B):c.603-8C>G	noncoding	Benign
19	49153431	C	T	C49153431T	HRC	NM_002152.3(HRC):c.1807G>A:p.Glu603Lys	coding	Benign
19	49157632	A	G	A49157632G	TRPM4	NC_000019.10:g.49157632A>G	noncoding	Benign
19	49157855	G	A	G49157855A	TRPM4	NM_017636.4(TRPM4):c.-12G>A	noncoding	Benign
19	49157885	G	A	G49157885A	TRPM4	NM_017636.4(TRPM4):c.19G>A:p.Glu7Lys	coding	Pathogenic
19	49158325	T	C	T49158325C	TRPM4	NM_017636.4(TRPM4):c.92+66T>C	noncoding	Benign
19	49165931	T	C	T49165931C	TRPM4	NM_017636.4(TRPM4):c.93-110T>C	noncoding	Benign
19	49166023	C	T	C49166023T	TRPM4	NM_017636.4(TRPM4):c.93-18C>T	noncoding	Benign
19	49166197	C	T	C49166197T	TRPM4	NM_017636.4(TRPM4):c.249C>T:p.Ala83=	coding	Benign/Likely_benign
19	49166229	C	G	C49166229G	TRPM4	NM_017636.4(TRPM4):c.267+14C>G	noncoding	Benign
19	49166304	C	G	C49166304G	TRPM4	NM_017636.4(TRPM4):c.267+89C>G	noncoding	Benign
19	49167950	G	A	G49167950A	TRPM4	NM_017636.4(TRPM4):c.301G>A:p.Ala101Thr	coding	Benign/Likely_benign
19	49167955	T	G	T49167955G	TRPM4	NM_017636.4(TRPM4):c.306T>G:p.Val102=	coding	Benign/Likely_benign
19	49167971	C	T	C49167971T	TRPM4	NM_017636.4(TRPM4):c.322C>T:p.Arg108Cys	coding	Benign/Likely_benign
19	49168003	G	C	G49168003C	TRPM4	NM_017636.4(TRPM4):c.354G>C:p.Val118=	coding	Benign
19	49168024	G	A	G49168024A	TRPM4	NM_017636.4(TRPM4):c.375G>A:p.Ser125=	coding	Benign
19	49168103	C	T	C49168103T	TRPM4	NM_017636.4(TRPM4):c.448+6C>T	noncoding	Benign/Likely_benign
19	49168246	C	T	C49168246T	TRPM4	NM_017636.4(TRPM4):c.449-14C>T	noncoding	Benign/Likely_benign
19	49168250	G	A	G49168250A	TRPM4	NM_017636.4(TRPM4):c.449-10G>A	noncoding	Benign/Likely_benign
19	49168301	C	T	C49168301T	TRPM4	NM_017636.4(TRPM4):c.490C>T:p.Arg164Trp	coding	Pathogenic
19	49168558	G	A	G49168558A	TRPM4	NM_017636.4(TRPM4):c.618G>A:p.Ser206=	coding	Benign/Likely_benign
19	49168723	G	A	G49168723A	TRPM4	NM_017636.4(TRPM4):c.783G>A:p.Lys261=	coding	Benign/Likely_benign
19	49171232	A	G	A49171232G	TRPM4	NM_017636.4(TRPM4):c.797-125A>G	noncoding	Benign
19	49171655	G	A	G49171655A	TRPM4	NM_017636.4(TRPM4):c.936G>A:p.Ala312=	coding	Benign/Likely_benign
19	49171760	G	T	G49171760T	TRPM4	NM_017636.4(TRPM4):c.1041G>T:p.Leu347=	coding	Benign
19	49171976	C	T	C49171976T	TRPM4	NM_017636.4(TRPM4):c.1051-33C>T	noncoding	Benign
19	49172000	A	G	A49172000G	TRPM4	NM_017636.4(TRPM4):c.1051-9A>G	noncoding	Benign
19	49181329	T	A	T49181329A	TRPM4	NM_017636.4(TRPM4):c.1151-20T>A	noncoding	Benign
19	49181362	G	A	G49181362A	TRPM4	NM_017636.4(TRPM4):c.1164G>A:p.Ser388=	coding	Benign/Likely_benign
19	49182756	C	G	C49182756G	TRPM4	NM_017636.4(TRPM4):c.1442C>G:p.Ser481Cys	coding	Benign
19	49183151	A	C	A49183151C	TRPM4	NM_017636.4(TRPM4):c.1682A>C:p.Asp561Ala	coding	Benign/Likely_benign
19	49189861	A	G	A49189861G	TRPM4	NM_017636.4(TRPM4):c.2020-347A>G	noncoding	Benign
19	49190411	G	A	G49190411A	TRPM4	NM_017636.4(TRPM4):c.2132+91G>A	noncoding	Benign
19	49190609	C	T	C49190609T	TRPM4	NM_017636.4(TRPM4):c.2133-87C>T	noncoding	Benign
19	49190784	C	G	C49190784G	TRPM4	NM_017636.4(TRPM4):c.2210+11C>G	noncoding	Benign
19	49196609	C	T	C49196609T	TRPM4	NM_017636.4(TRPM4):c.2380C>T:p.Leu794=	coding	Benign
19	49196764	C	G	C49196764G	TRPM4	NM_017636.4(TRPM4):c.2535C>G:p.Pro845=	coding	Benign
19	49196848	C	T	C49196848T	TRPM4	NM_017636.4(TRPM4):c.2619C>T:p.Thr873=	coding	Benign/Likely_benign
19	49200283	A	T	A49200283T	TRPM4	NM_017636.4(TRPM4):c.2646-17A>T	noncoding	Benign
19	49200395	A	G	A49200395G	TRPM4	NM_017636.4(TRPM4):c.2741A>G:p.Lys914Arg	coding	Pathogenic
19	49200766	T	C	T49200766C	TRPM4	NM_017636.4(TRPM4):c.2934T>C:p.Ile978=	coding	Benign/Likely_benign
19	49200800	G	A	G49200800A	TRPM4	NM_017636.4(TRPM4):c.2953+15G>A	noncoding	Benign/Likely_benign
19	49201992	G	A	G49201992A	TRPM4	NM_017636.4(TRPM4):c.2982G>A:p.Ser994=	coding	Benign
19	49202034	G	A	G49202034A	TRPM4	NM_017636.4(TRPM4):c.3024G>A:p.Ala1008=	coding	Benign
19	49202092	C	T	C49202092T	TRPM4	NM_017636.4(TRPM4):c.3082C>T:p.Leu1028=	coding	Benign/Likely_benign
19	49202109	C	G	C49202109G	TRPM4	NM_017636.4(TRPM4):c.3099C>G:p.Ile1033Met	coding	Pathogenic
19	49202129	T	C	T49202129C	TRPM4	NM_017636.4(TRPM4):c.3119T>C:p.Ile1040Thr	coding	Pathogenic
19	49202158	C	T	C49202158T	TRPM4	NM_017636.4(TRPM4):c.3131+17C>T	noncoding	Benign
19	49202239	C	T	C49202239T	TRPM4	NM_017636.4(TRPM4):c.3131+98C>T	noncoding	Benign
19	49202246	C	G	C49202246G	TRPM4	NM_017636.4(TRPM4):c.3131+105C>G	noncoding	Benign
19	49209996	A	G	A49209996G	TRPM4	NM_017636.4(TRPM4):c.3132-213A>G	noncoding	Benign
19	49210786	A	C	A49210786C	TRPM4	NM_017636.4(TRPM4):c.3405A>C:p.Ala1135=	coding	Benign
19	49210808	A	G	A49210808G	TRPM4	NM_017636.4(TRPM4):c.3427A>G:p.Ser1143Gly	coding	Benign/Likely_benign
19	49211475	C	G	C49211475G	TRPM4	NM_017636.4(TRPM4):c.3641-19C>G	noncoding	Benign
19	49335776	G	C	G49335776C	CD37	NM_001774.3(CD37):c.132G>C:p.Val44=	coding	Benign
19	49337946	G	A	G49337946A	CD37	NM_001774.3(CD37):c.364G>A:p.Val122Ile	coding	Benign
19	49339323	C	T	C49339323T	CD37	NM_001774.3(CD37):c.685-7C>T	noncoding	Benign
19	49348773	C	G	C49348773G	TEAD2	NM_001256660.2(TEAD2):c.677G>C:p.Gly226Ala	coding	Benign
19	49348813	G	A	G49348813A	TEAD2	NM_001256660.2(TEAD2):c.637C>T:p.Pro213Ser	coding	Benign
19	49357264	C	A	C49357264A	TEAD2	NM_001256660.2(TEAD2):c.348G>T:p.Gln116His	coding	Benign
19	49374796	G	A	G49374796A	DKKL1	NM_014419.4(DKKL1):c.497G>A:p.Arg166Gln	coding	Benign
19	49375018	G	A	G49375018A	DKKL1	NM_014419.4(DKKL1):c.719G>A:p.Arg240Gln	coding	Benign
19	49430591	G	T	G49430591T	SLC17A7	NM_020309.4(SLC17A7):c.1611C>A:p.Pro537=	coding	Benign
19	49430690	G	A	G49430690A	SLC17A7	NM_020309.4(SLC17A7):c.1512C>T:p.Ser504=	coding	Benign
19	49433716	G	T	G49433716T	SLC17A7	NM_020309.4(SLC17A7):c.867+10C>A	noncoding	Benign
19	49434053	G	A	G49434053A	SLC17A7	NM_020309.4(SLC17A7):c.638-7C>T	noncoding	Benign
19	49435203	T	C	T49435203C	SLC17A7	NM_020309.4(SLC17A7):c.399A>G:p.Pro133=	coding	Benign
19	49436724	C	T	C49436724T	SLC17A7	NM_020309.4(SLC17A7):c.140G>A:p.Arg47Gln	coding	Benign
19	49460909	G	A	G49460909A	ALDH16A1	NM_153329.4(ALDH16A1):c.577+10G>A	noncoding	Benign
19	49474672	A	G	A49474672G	FLT3LG	NM_001459.4(FLT3LG):c.33A>G:p.Thr11=	coding	Benign
19	49490225	C	T	C49490225T	RPL13A	NM_012423.4(RPL13A):c.89-7C>T	noncoding	Benign
19	49490813	C	T	C49490813T	RPL13A	NM_012423.4(RPL13A):c.291C>T:p.Ala97=	coding	Benign
19	49491420	C	G	C49491420G	RPL13A	NM_012423.4(RPL13A):c.403-5C>G	noncoding	Benign
19	49491421	G	A	G49491421A	RPL13A	NM_012423.4(RPL13A):c.403-4G>A	noncoding	Benign
19	49513934	G	T	G49513934T	FCGRT	NM_001136019.3(FCGRT):c.126G>T:p.Pro42=	coding	Benign
19	49514281	G	C	G49514281C	FCGRT	NM_001136019.3(FCGRT):c.396G>C:p.Lys132Asn	coding	Benign
19	49526041	C	T	C49526041T	FCGRT	NM_001136019.3(FCGRT):c.1020C>T:p.Thr340=	coding	Benign
19	49594489	G	A	G49594489A	PRR12	NM_020719.3(PRR12):c.235G>A:p.Ala79Thr	coding	Benign
19	49594815	C	T	C49594815T	PRR12	NM_020719.3(PRR12):c.480C>T:p.Arg160=	coding	Benign
19	49595335	C	T	C49595335T	PRR12	NM_020719.3(PRR12):c.1000C>T:p.Leu334=	coding	Benign
19	49595943	C	G	C49595943G	PRR12	NM_020719.3(PRR12):c.1608C>G:p.Gly536=	coding	Benign
19	49595961	G	A	G49595961A	PRR12	NM_020719.3(PRR12):c.1626G>A:p.Ser542=	coding	Benign
19	49596144	G	A	G49596144A	PRR12	NM_020719.3(PRR12):c.1809G>A:p.Pro603=	coding	Benign
19	49596253	G	T	G49596253T	PRR12	NM_020719.3(PRR12):c.1918G>T:p.Glu640Ter	coding	Pathogenic
19	49596399	C	T	C49596399T	PRR12	NM_020719.3(PRR12):c.2064C>T:p.Tyr688=	coding	Benign
19	49596482	C	G	C49596482G	PRR12	NM_020719.3(PRR12):c.2147C>G:p.Ala716Gly	coding	Benign
19	49596582	C	T	C49596582T	PRR12	NM_020719.3(PRR12):c.2247C>T:p.Tyr749=	coding	Benign
19	49597147	T	C	T49597147C	PRR12	NM_020719.3(PRR12):c.2812T>C:p.Leu938=	coding	Benign
19	49597407	C	T	C49597407T	PRR12	NM_020719.3(PRR12):c.3072C>T:p.Ala1024=	coding	Benign
19	49597563	C	T	C49597563T	PRR12	NM_020719.3(PRR12):c.3228C>T:p.Ser1076=	coding	Benign
19	49597575	G	A	G49597575A	PRR12	NM_020719.3(PRR12):c.3240G>A:p.Leu1080=	coding	Benign
19	49599394	T	C	T49599394C	PRR12	NM_020719.3(PRR12):c.3801T>C:p.Ile1267=	coding	Benign
19	49599418	G	A	G49599418A	PRR12	NM_020719.3(PRR12):c.3825G>A:p.Pro1275=	coding	Benign
19	49599937	C	T	C49599937T	PRR12	NM_020719.3(PRR12):c.4344C>T:p.Pro1448=	coding	Benign
19	49601678	G	A	G49601678A	PRR12	NM_020719.3(PRR12):c.4533G>A:p.Ser1511=	coding	Benign
19	49615882	G	A	G49615882A	PRR12	NM_020719.3(PRR12):c.5160G>A:p.Glu1720=	coding	Benign
19	49615966	A	G	A49615966G	PRR12	NM_020719.3(PRR12):c.5244A>G:p.Thr1748=	coding	Benign
19	49616047	A	G	A49616047G	PRR12	NM_020719.3(PRR12):c.5325A>G:p.Gln1775=	coding	Benign
19	49621559	C	T	C49621559T	PRR12	NM_020719.3(PRR12):c.5658C>T:p.Asp1886=	coding	Benign
19	49625131	G	A	G49625131A	PRR12	NM_020719.3(PRR12):c.5895G>A:p.Ser1965=	coding	Benign
19	49635572	T	C	T49635572C	RRAS	NM_006270.5(RRAS):c.*4A>G	noncoding	Benign
19	49635633	C	T	C49635633T	RRAS	NM_006270.5(RRAS):c.600G>A:p.Pro200=	coding	Benign/Likely_benign
19	49635672	C	T	C49635672T	RRAS	NM_006270.5(RRAS):c.573-12G>A	noncoding	Benign
19	49635743	C	T	C49635743T	RRAS	NM_006270.5(RRAS):c.563G>A:p.Arg188Gln	coding	Benign
19	49635790	C	G	C49635790G	RRAS	NM_006270.5(RRAS):c.516G>C:p.Ser172=	coding	Benign/Likely_benign
19	49635862	G	C	G49635862C	RRAS	NM_006270.5(RRAS):c.454-10C>G	noncoding	Benign
19	49636599	G	A	G49636599A	RRAS	NM_006270.5(RRAS):c.453+20C>T	noncoding	Benign
19	49636664	G	A	G49636664A	RRAS	NM_006270.5(RRAS):c.408C>T:p.Pro136=	coding	Benign
19	49636675	C	T	C49636675T	RRAS	NM_006270.5(RRAS):c.397G>A:p.Asp133Asn	coding	Benign
19	49636693	G	A	G49636693A	RRAS	NM_006270.5(RRAS):c.379C>T:p.Leu127=	coding	Benign/Likely_benign
19	49636811	C	T	C49636811T	RRAS	NM_006270.5(RRAS):c.344+13G>A	noncoding	Benign
19	49636835	G	A	G49636835A	RRAS	NM_006270.5(RRAS):c.333C>T:p.Asn111=	coding	Benign
19	49636925	G	A	G49636925A	RRAS	NM_006270.5(RRAS):c.243C>T:p.Ile81=	coding	Benign
19	49637055	C	T	C49637055T	RRAS	NM_006270.5(RRAS):c.229G>A:p.Ala77Thr	coding	Benign
19	49637110	G	A	G49637110A	RRAS	NM_006270.5(RRAS):c.174C>T:p.Tyr58=	coding	Benign/Likely_benign
19	49637134	G	C	G49637134C	RRAS	NM_006270.5(RRAS):c.154-4C>G	noncoding	Benign/Likely_benign
19	49640045	T	A	T49640045A	RRAS	NM_006270.5(RRAS):c.54A>T:p.Gly18=	coding	Benign
19	49645071	G	C	G49645071C	SCAF1	NM_021228.3(SCAF1):c.45G>C:p.Gly15=	coding	Benign
19	49645079	G	A	G49645079A	SCAF1	NM_021228.3(SCAF1):c.53G>A:p.Arg18Gln	coding	Benign
19	49646556	G	T	G49646556T	SCAF1	NM_021228.3(SCAF1):c.292G>T:p.Ala98Ser	coding	Benign
19	49654723	G	A	G49654723A	SCAF1	NM_021228.3(SCAF1):c.3471G>A:p.Leu1157=	coding	Benign
19	49662594	C	G	C49662594G	IRF3	NM_001571.6(IRF3):c.432G>C:p.Leu144=	coding	Benign
19	49663393	C	T	C49663393T	IRF3	NM_001571.6(IRF3):c.287G>A:p.Arg96Gln	coding	Benign
19	49680531	G	A	G49680531A	PRMT1	NM_001536.5(PRMT1):c.135G>A:p.Glu45=	coding	Benign
19	49692361	C	T	C49692361T	CPT1C	NM_001199753.2(CPT1C):c.109C>T:p.Arg37Cys	coding	Pathogenic
19	49705940	C	T	C49705940T	CPT1C	NM_001136052.2(CPT1C):c.963C>T:p.His321=	coding	Benign
19	49705961	C	T	C49705961T	CPT1C	NM_001136052.2(CPT1C):c.984C>T:p.Gly328=	coding	Benign
19	49707557	C	T	C49707557T	CPT1C	NM_001136052.2(CPT1C):c.1350C>T:p.Asn450=	coding	Benign
19	49707575	C	T	C49707575T	CPT1C	NM_001199753.2(CPT1C):c.1401C>T:p.Ser467=	coding	Benign
19	49708715	G	A	G49708715A	CPT1C	NM_001136052.2(CPT1C):c.1417-8G>A	noncoding	Benign
19	49708767	C	T	C49708767T	CPT1C	NM_001199753.2(CPT1C):c.1494C>T:p.Asp498=	coding	Benign
19	49708797	A	G	A49708797G	CPT1C	NM_001199753.2(CPT1C):c.1524A>G:p.Thr508=	coding	Benign
19	49710491	T	A	T49710491A	CPT1C	NM_001136052.2(CPT1C):c.1698+7T>A	noncoding	Benign
19	49799456	C	T	C49799456T	AP2A1	NM_130787.3(AP2A1):c.1095C>T:p.Ala365=	coding	Benign
19	49802561	C	T	C49802561T	AP2A1	NM_130787.3(AP2A1):c.2115-388C>T	coding	Benign
19	49807170	G	T	G49807170T	FUZ	NM_025129.5(FUZ):c.1238C>A:p.Ala413Asp	coding	Benign
19	49808587	G	A	G49808587A	FUZ	NM_025129.5(FUZ):c.945C>T:p.Pro315=	coding	Benign
19	49811399	C	T	C49811399T	FUZ	NM_025129.5(FUZ):c.456G>A:p.Val152=	coding	Benign
19	49811450	G	A	G49811450A	FUZ	NM_025129.5(FUZ):c.405C>T:p.Ile135=	coding	Benign
19	49811658	G	A	G49811658A	FUZ	NM_025129.5(FUZ):c.360C>T:p.Asn120=	coding	Benign
19	49813007	C	A	C49813007A	FUZ	NM_025129.5(FUZ):c.100G>T:p.Ala34Ser	coding	Benign
19	49818330	A	G	A49818330G	MED25	NM_030973.3(MED25):c.-12A>G	noncoding	Benign
19	49818434	C	T	C49818434T	MED25	NM_030973.3(MED25):c.93C>T:p.Tyr31=	coding	Benign/Likely_benign
19	49818437	C	T	C49818437T	MED25	NM_030973.3(MED25):c.96C>T:p.Phe32=	coding	Benign
19	49818457	A	G	A49818457G	MED25	NM_030973.3(MED25):c.116A>G:p.Tyr39Cys	coding	Pathogenic
19	49818601	G	A	G49818601A	MED25	NM_030973.3(MED25):c.165G>A:p.Thr55=	coding	Benign
19	49819225	C	G	C49819225G	MED25	NM_030973.3(MED25):c.234C>G:p.Pro78=	coding	Benign
19	49828497	C	T	C49828497T	MED25	NM_030973.3(MED25):c.354C>T:p.Leu118=	coding	Benign/Likely_benign
19	49829857	C	A	C49829857A	MED25	NM_030973.3(MED25):c.597C>A:p.Ala199=	coding	Benign/Likely_benign
19	49830232	C	T	C49830232T	MED25	NM_030973.3(MED25):c.819+14C>T	noncoding	Benign/Likely_benign
19	49830848	C	T	C49830848T	MED25	NM_030973.3(MED25):c.1062C>T:p.Ser354=	coding	Benign/Likely_benign
19	49832166	C	T	C49832166T	MED25	NM_030973.3(MED25):c.1374+9C>T	noncoding	Benign/Likely_benign
19	49832367	G	A	G49832367A	MED25	NM_030973.3(MED25):c.1434G>A:p.Lys478=	coding	Benign/Likely_benign
19	49832434	G	A	G49832434A	MED25	NM_030973.3(MED25):c.1482+19G>A	noncoding	Benign
19	49834979	C	T	C49834979T	MED25	NM_030973.3(MED25):c.1483-7C>T	noncoding	Benign
19	49835196	C	T	C49835196T	MED25	NM_030973.3(MED25):c.1674+19C>T	noncoding	Benign
19	49835527	C	T	C49835527T	MED25	NM_030973.3(MED25):c.1675-7C>T	noncoding	Benign
19	49835586	C	G	C49835586G	MED25	NM_030973.3(MED25):c.1727C>G:p.Ala576Gly	coding	Benign/Likely_benign
19	49835774	C	T	C49835774T	MED25	NM_030973.3(MED25):c.1794C>T:p.Ala598=	coding	Benign/Likely_benign
19	49836291	G	A	G49836291A	MED25	NM_030973.3(MED25):c.2031G>A:p.Ala677=	coding	Benign
19	49836316	C	T	C49836316T	MED25	NM_030973.3(MED25):c.2056C>T:p.Leu686=	coding	Benign/Likely_benign
19	49836348	G	A	G49836348A	MED25	NM_030973.3(MED25):c.2088G>A:p.Leu696=	coding	Benign
19	49836908	C	T	C49836908T	MED25	NM_030973.3(MED25):c.2208C>T:p.Ser736=	coding	Benign
19	49861227	T	G	T49861227G	PNKP	NM_007254.4(PNKP):c.*21A>C	noncoding	Benign
19	49861257	G	A	G49861257A	PNKP	NM_007254.4(PNKP):c.1557C>T:p.Ser519=	coding	Benign/Likely_benign
19	49861265	G	A	G49861265A	PNKP	NM_007254.4(PNKP):c.1549C>T:p.Gln517Ter	coding	Pathogenic
19	49861317	C	T	C49861317T	PNKP	NM_007254.4(PNKP):c.1497G>A:p.Leu499=	coding	Benign/Likely_benign
19	49861319	G	A	G49861319A	PNKP	NM_007254.4(PNKP):c.1495C>T:p.Leu499=	coding	Benign
19	49861384	G	T	G49861384T	PNKP	NM_007254.4(PNKP):c.1449-19C>A	noncoding	Benign
19	49861457	A	C	A49861457C	PNKP	NM_007254.4(PNKP):c.1440T>G:p.Tyr480Ter	coding	Pathogenic
19	49861464	A	C	A49861464C	PNKP	NM_007254.4(PNKP):c.1433T>G:p.Val478Gly	coding	Benign/Likely_benign
19	49861607	C	T	C49861607T	PNKP	NM_007254.4(PNKP):c.1386+1G>A	noncoding	Pathogenic
19	49861665	G	A	G49861665A	PNKP	NM_007254.4(PNKP):c.1329C>T:p.Val443=	coding	Benign/Likely_benign
19	49861672	G	C	G49861672C	PNKP	NM_007254.4(PNKP):c.1322C>G:p.Ala441Gly	coding	Benign/Likely_benign
19	49861679	G	A	G49861679A	PNKP	NM_007254.4(PNKP):c.1315C>T:p.Arg439Ter	coding	Pathogenic
19	49861701	G	A	G49861701A	PNKP	NM_007254.4(PNKP):c.1299-6C>T	noncoding	Benign/Likely_benign
19	49861753	G	A	G49861753A	PNKP	NM_007254.4(PNKP):c.1298+19C>T	noncoding	Benign
19	49861813	G	A	G49861813A	PNKP	NM_007254.4(PNKP):c.1257C>T:p.Val419=	coding	Benign/Likely_benign
19	49861863	G	A	G49861863A	PNKP	NM_007254.4(PNKP):c.1207C>T:p.Gln403Ter	coding	Pathogenic/Likely_pathogenic
19	49861883	T	G	T49861883G	PNKP	NM_007254.4(PNKP):c.1189-2A>C	noncoding	Pathogenic
19	49862113	G	A	G49862113A	PNKP	NM_007254.4(PNKP):c.1127-8C>T	noncoding	Benign/Likely_benign
19	49862188	C	A	C49862188A	PNKP	NM_007254.4(PNKP):c.1123G>T:p.Gly375Trp	coding	Pathogenic
19	49862279	C	T	C49862279T	PNKP	NM_007254.4(PNKP):c.1032G>A:p.Arg344=	coding	Benign/Likely_benign
19	49862408	C	T	C49862408T	PNKP	NM_007254.4(PNKP):c.992G>A:p.Trp331Ter	coding	Pathogenic
19	49862424	C	T	C49862424T	PNKP	NM_007254.4(PNKP):c.976G>A:p.Glu326Lys	coding	Pathogenic
19	49862461	A	G	A49862461G	PNKP	NM_007254.4(PNKP):c.939T>C:p.Phe313=	coding	Benign/Likely_benign
19	49862473	G	A	G49862473A	PNKP	NM_007254.4(PNKP):c.937-10C>T	noncoding	Benign/Likely_benign
19	49862785	G	A	G49862785A	PNKP	NM_007254.4(PNKP):c.817-47C>T	noncoding	Benign
19	49862907	C	A	C49862907A	PNKP	NM_007254.4(PNKP):c.817-169G>T	noncoding	Benign
19	49863669	G	A	G49863669A	PNKP	NM_007254.4(PNKP):c.816+20C>T	noncoding	Benign
19	49863722	C	T	C49863722T	PNKP	NM_007254.4(PNKP):c.783G>A:p.Pro261=	coding	Benign/Likely_benign
19	49864172	C	T	C49864172T	PNKP	NM_007254.4(PNKP):c.636+7G>A	noncoding	Benign/Likely_benign
19	49864178	C	A	C49864178A	PNKP	NM_007254.4(PNKP):c.636+1G>T	noncoding	Pathogenic
19	49864205	G	A	G49864205A	PNKP	NM_007254.4(PNKP):c.610C>T:p.Arg204Ter	coding	Pathogenic/Likely_pathogenic
19	49864229	A	T	A49864229T	PNKP	NM_007254.4(PNKP):c.586T>A:p.Tyr196Asn	coding	Benign/Likely_benign
19	49864338	G	A	G49864338A	PNKP	NM_007254.4(PNKP):c.564C>T:p.Gly188=	coding	Benign/Likely_benign
19	49864364	G	T	G49864364T	PNKP	NM_007254.4(PNKP):c.538C>A:p.Arg180Ser	coding	Benign/Likely_benign
19	49864376	G	A	G49864376A	PNKP	NM_007254.4(PNKP):c.526C>T:p.Leu176Phe	coding	Pathogenic
19	49864859	C	A	C49864859A	PNKP	NM_007254.4(PNKP):c.498+268G>T	noncoding	Benign
19	49865104	T	A	T49865104A	PNKP	NM_007254.4(PNKP):c.498+23A>T	noncoding	Benign
19	49865135	G	A	G49865135A	PNKP	NM_007254.4(PNKP):c.490C>T:p.Gln164Ter	coding	Pathogenic
19	49865596	C	T	C49865596T	PNKP	NM_007254.4(PNKP):c.199-170G>A	noncoding	Benign
19	49866809	C	T	C49866809T	PNKP	NM_007254.4(PNKP):c.151+245G>A	noncoding	Benign
19	49866849	T	G	T49866849G	PNKP	NM_007254.4(PNKP):c.151+205A>C	noncoding	Benign
19	49867043	G	A	G49867043A	PNKP	NM_007254.4(PNKP):c.151+11C>T	noncoding	Benign
19	49867057	G	C	G49867057C	PNKP	NM_007254.4(PNKP):c.148C>G:p.Gln50Glu	coding	Pathogenic
19	49867147	G	A	G49867147A	PNKP	NM_007254.4(PNKP):c.58C>T:p.Pro20Ser	coding	Benign/Likely_benign
19	49867149	G	A	G49867149A	PNKP	NM_007254.4(PNKP):c.56C>T:p.Ala19Val	coding	Benign
19	49867505	C	G	C49867505G	PNKP	NM_007254.4(PNKP):c.-50G>C	noncoding	Benign/Likely_benign
19	49872948	G	A	G49872948A	AKT1S1	NM_001098633.4(AKT1S1):c.348C>T:p.Ser116=	coding	Benign
19	49873131	C	T	C49873131T	AKT1S1	NM_001098633.4(AKT1S1):c.165G>A:p.Ala55=	coding	Benign
19	49908290	G	A	G49908290A	NUP62	NM_016553.5(NUP62):c.1518C>T:p.Cys506=	coding	Benign
19	49908325	G	A	G49908325A	NUP62	NM_016553.5(NUP62):c.1483C>T:p.Leu495=	coding	Benign
19	49908470	G	A	G49908470A	NUP62	NM_016553.5(NUP62):c.1338C>T:p.Arg446=	coding	Benign
19	49908636	T	G	T49908636G	NUP62	NM_016553.5(NUP62):c.1172A>C:p.Gln391Pro	coding	Pathogenic
19	49908973	C	T	C49908973T	NUP62	NM_016553.5(NUP62):c.835G>A:p.Ala279Thr	coding	Benign
19	49909226	C	T	C49909226T	NUP62	NM_016553.5(NUP62):c.582G>A:p.Thr194=	coding	Benign
19	49909248	G	A	G49909248A	NUP62	NM_016553.5(NUP62):c.560C>T:p.Thr187Met	coding	Benign/Likely_benign
19	49909531	C	T	C49909531T	NUP62	NM_016553.5(NUP62):c.277G>A:p.Gly93Ser	coding	Benign
19	49930940	C	T	C49930940T	ATF5	NM_012068.5(ATF5):c.90C>T:p.Leu30=	coding	Benign
19	49932498	C	A	C49932498A	ATF5	NM_012068.5(ATF5):c.255C>A:p.Pro85=	coding	Benign
19	49951945	G	A	G49951945A	SIGLEC11	NM_052884.3(SIGLEC11):c.1776C>T:p.Arg592=	coding	Benign
19	50203662	C	T	C50203662T	MYH14	NM_001145809.2(MYH14):c.-13C>T	noncoding	Benign
19	50210385	C	A	C50210385A	MYH14	NM_001145809.2(MYH14):c.20C>A:p.Ser7Ter	coding	Pathogenic
19	50210398	G	C	G50210398C	MYH14	NM_001145809.2(MYH14):c.33G>C:p.Arg11=	coding	Benign
19	50210401	G	A	G50210401A	MYH14	NM_001145809.2(MYH14):c.36G>A:p.Lys12=	coding	Benign/Likely_benign
19	50210456	C	A	C50210456A	MYH14	NM_001145809.2(MYH14):c.91C>A:p.Pro31Thr	coding	Benign
19	50210557	G	T	G50210557T	MYH14	NM_001145809.2(MYH14):c.192G>T:p.Gly64=	coding	Benign/Likely_benign
19	50210724	C	T	C50210724T	MYH14	NM_001145809.2(MYH14):c.359C>T:p.Ser120Leu	coding	Pathogenic
19	50210759	G	A	G50210759A	MYH14	NM_001145809.2(MYH14):c.394G>A:p.Gly132Ser	coding	Benign/Likely_benign
19	50217617	G	A	G50217617A	MYH14	NM_001145809.2(MYH14):c.408G>A:p.Thr136=	coding	Benign
19	50217683	T	C	T50217683C	MYH14	NM_001145809.2(MYH14):c.474T>C:p.Ile158=	coding	Benign
19	50217692	G	A	G50217692A	MYH14	NM_001145809.2(MYH14):c.483G>A:p.Met161Ile	coding	Benign
19	50223313	G	A	G50223313A	MYH14	NM_001145809.2(MYH14):c.657G>A:p.Ala219=	coding	Benign
19	50223316	G	T	G50223316T	MYH14	NM_001145809.2(MYH14):c.660G>T:p.Ser220=	coding	Benign
19	50223359	C	T	C50223359T	MYH14	NM_001145809.2(MYH14):c.693+10C>T	noncoding	Benign
19	50226918	A	G	A50226918G	MYH14	NM_001145809.2(MYH14):c.826A>G:p.Ile276Val	coding	Benign/Likely_benign
19	50231980	C	G	C50231980G	MYH14	NM_001145809.2(MYH14):c.1024C>G:p.Pro342Ala	coding	Benign
19	50231990	C	G	C50231990G	MYH14	NM_001145809.2(MYH14):c.1034C>G:p.Ser345Cys	coding	Benign/Likely_benign
19	50232083	C	T	C50232083T	MYH14	NM_001145809.2(MYH14):c.1114+13C>T	noncoding	Benign
19	50244171	G	A	G50244171A	MYH14	NM_001145809.2(MYH14):c.1115-71G>A	noncoding	Benign
19	50244260	C	T	C50244260T	MYH14	NM_001145809.2(MYH14):c.1133C>T:p.Ser378Leu	coding	Benign/Likely_benign
19	50244276	T	C	T50244276C	MYH14	NM_001145809.2(MYH14):c.1149T>C:p.Phe383=	coding	Benign
19	50244332	A	G	A50244332G	MYH14	NM_001145809.2(MYH14):c.1205A>G:p.Asn402Ser	coding	Benign/Likely_benign
19	50244395	C	T	C50244395T	MYH14	NM_001145809.2(MYH14):c.1210+58C>T	noncoding	Benign
19	50247017	C	T	C50247017T	MYH14	NM_001145809.2(MYH14):c.1224C>T:p.Leu408=	coding	Benign
19	50247068	C	T	C50247068T	MYH14	NM_001145809.2(MYH14):c.1275C>T:p.Thr425=	coding	Benign/Likely_benign
19	50247137	C	T	C50247137T	MYH14	NM_001145809.2(MYH14):c.1329+15C>T	noncoding	Benign/Likely_benign
19	50249640	G	A	G50249640A	MYH14	NM_001145809.2(MYH14):c.1483-10G>A	noncoding	Benign
19	50250613	C	T	C50250613T	MYH14	NM_001145809.2(MYH14):c.1755C>T:p.Gly585=	coding	Benign
19	50252698	C	T	C50252698T	MYH14	NM_001145809.2(MYH14):c.1890C>T:p.Val630=	coding	Benign
19	50252752	C	T	C50252752T	MYH14	NM_001145809.2(MYH14):c.1944C>T:p.Asp648=	coding	Benign/Likely_benign
19	50255315	G	C	G50255315C	MYH14	NM_001145809.2(MYH14):c.2041G>C:p.Gly681Arg	coding	Benign
19	50257459	C	G	C50257459G	MYH14	NM_001145809.2(MYH14):c.2205C>G:p.Arg735=	coding	Benign
19	50257572	T	C	T50257572C	MYH14	NM_001145809.2(MYH14):c.2232+86T>C	noncoding	Benign
19	50259161	A	G	A50259161G	MYH14	NM_001145809.2(MYH14):c.2250A>G:p.Pro750=	coding	Benign
19	50259210	C	A	C50259210A	MYH14	NM_001145809.2(MYH14):c.2299C>A:p.Arg767Ser	coding	Pathogenic
19	50259312	C	T	C50259312T	MYH14	NM_001145809.2(MYH14):c.2354+47C>T	noncoding	Benign
19	50260629	C	T	C50260629T	MYH14	NM_001145809.2(MYH14):c.2355-17C>T	noncoding	Benign
19	50260632	C	T	C50260632T	MYH14	NM_001145809.2(MYH14):c.2355-14C>T	noncoding	Benign
19	50261482	C	T	C50261482T	MYH14	NM_001145809.2(MYH14):c.2432C>T:p.Ala811Val	coding	Benign/Likely_benign
19	50263326	G	A	G50263326A	MYH14	NM_001145809.2(MYH14):c.2600G>A:p.Arg867His	coding	Benign
19	50263406	C	A	C50263406A	MYH14	NM_001145809.2(MYH14):c.2680C>A:p.Arg894=	coding	Benign/Likely_benign
19	50266787	G	A	G50266787A	MYH14	NM_001145809.2(MYH14):c.2695-90G>A	noncoding	Benign
19	50266945	A	G	A50266945G	MYH14	NM_001145809.2(MYH14):c.2763A>G:p.Lys921=	coding	Benign
19	50266974	G	A	G50266974A	MYH14	NM_001145809.2(MYH14):c.2792G>A:p.Arg931His	coding	Benign
19	50268152	A	C	A50268152C	MYH14	NM_001145809.2(MYH14):c.2827-9A>C	noncoding	Benign
19	50268175	C	T	C50268175T	MYH14	NM_001145809.2(MYH14):c.2841C>T:p.Arg947=	coding	Benign
19	50268255	G	T	G50268255T	MYH14	NM_001145809.2(MYH14):c.2921G>T:p.Arg974Leu	coding	Pathogenic
19	50268352	G	A	G50268352A	MYH14	NM_001145809.2(MYH14):c.3018G>A:p.Leu1006=	coding	Benign
19	50268378	T	C	T50268378C	MYH14	NM_001145809.2(MYH14):c.3033+11T>C	noncoding	Benign
19	50271324	G	A	G50271324A	MYH14	NM_001145809.2(MYH14):c.3034-85G>A	noncoding	Benign
19	50271424	C	T	C50271424T	MYH14	NM_001145809.2(MYH14):c.3049C>T:p.Leu1017Phe	coding	Pathogenic
19	50271454	C	T	C50271454T	MYH14	NM_001145809.2(MYH14):c.3079C>T:p.Leu1027=	coding	Benign/Likely_benign
19	50272567	A	G	A50272567G	MYH14	NM_001145809.2(MYH14):c.3303A>G:p.Leu1101=	coding	Benign/Likely_benign
19	50275988	C	T	C50275988T	MYH14	NM_001145809.2(MYH14):c.3468-3C>T	noncoding	Benign
19	50276060	C	T	C50276060T	MYH14	NM_001145809.2(MYH14):c.3537C>T:p.Ala1179=	coding	Benign/Likely_benign
19	50276186	C	T	C50276186T	MYH14	NM_001145809.2(MYH14):c.3663C>T:p.Asn1221=	coding	Benign
19	50276212	C	T	C50276212T	MYH14	NM_001145809.2(MYH14):c.3680+9C>T	noncoding	Benign
19	50276825	C	A	C50276825A	MYH14	NM_001145809.2(MYH14):c.3749C>A:p.Ala1250Glu	coding	Benign
19	50278341	G	C	G50278341C	MYH14	NM_001145809.2(MYH14):c.4032+52G>C	noncoding	Benign
19	50280098	G	A	G50280098A	MYH14	NM_001145809.2(MYH14):c.4094G>A:p.Ser1365Asn	coding	Benign/Likely_benign
19	50280348	C	T	C50280348T	MYH14	NM_001145809.2(MYH14):c.4255C>T:p.Arg1419Trp	coding	Benign
19	50286528	G	A	G50286528A	MYH14	NM_001145809.2(MYH14):c.4586G>A:p.Arg1529His	coding	Benign/Likely_benign
19	50286538	C	T	C50286538T	MYH14	NM_001145809.2(MYH14):c.4596C>T:p.Ala1532=	coding	Benign
19	50286559	T	G	T50286559G	MYH14	NM_001145809.2(MYH14):c.4617T>G:p.Arg1539=	coding	Benign/Likely_benign
19	50286627	G	A	G50286627A	MYH14	NM_001145809.2(MYH14):c.4685G>A:p.Arg1562Gln	coding	Benign/Likely_benign
19	50286683	G	A	G50286683A	MYH14	NM_001145809.2(MYH14):c.4741G>A:p.Val1581Ile	coding	Benign
19	50286710	G	A	G50286710A	MYH14	NM_001145809.2(MYH14):c.4752+16G>A	noncoding	Benign
19	50289427	C	T	C50289427T	MYH14	NM_001145809.2(MYH14):c.4753-9C>T	noncoding	Benign
19	50289431	A	G	A50289431G	MYH14	NM_001145809.2(MYH14):c.4753-5A>G	noncoding	Benign
19	50291004	G	C	G50291004C	MYH14	NM_001145809.2(MYH14):c.5083G>C:p.Gly1695Arg	coding	Benign/Likely_benign
19	50291058	G	A	G50291058A	MYH14	NM_001145809.2(MYH14):c.5127+10G>A	noncoding	Benign/Likely_benign
19	50292360	C	T	C50292360T	MYH14	NM_001145809.2(MYH14):c.5227C>T:p.Leu1743=	coding	Benign/Likely_benign
19	50293257	C	A	C50293257A	MYH14	NM_001145809.2(MYH14):c.5281C>A:p.Arg1761=	coding	Benign
19	50293310	T	C	T50293310C	MYH14	NM_001145809.2(MYH14):c.5334T>C:p.Gly1778=	coding	Benign
19	50293648	G	A	G50293648A	MYH14	NM_001145809.2(MYH14):c.5430G>A:p.Ser1810=	coding	Benign
19	50293684	G	A	G50293684A	MYH14	NM_001145809.2(MYH14):c.5466G>A:p.Leu1822=	coding	Benign
19	50293703	C	T	C50293703T	MYH14	NM_001145809.2(MYH14):c.5469+16C>T	noncoding	Benign
19	50301720	C	T	C50301720T	MYH14	NM_001145809.2(MYH14):c.5529C>T:p.Ser1843=	coding	Benign
19	50301724	C	T	C50301724T	MYH14	NM_001145809.2(MYH14):c.5533C>T:p.Arg1845Trp	coding	Benign
19	50301764	G	A	G50301764A	MYH14	NM_001145809.2(MYH14):c.5573G>A:p.Arg1858His	coding	Benign/Likely_benign
19	50301881	C	T	C50301881T	MYH14	NM_001145809.2(MYH14):c.5678+12C>T	noncoding	Benign
19	50307053	C	T	C50307053T	MYH14	NM_001145809.2(MYH14):c.5683C>T:p.Arg1895Cys	coding	Benign/Likely_benign
19	50307148	C	T	C50307148T	MYH14	NM_001145809.2(MYH14):c.5778C>T:p.Leu1926=	coding	Benign/Likely_benign
19	50309085	C	T	C50309085T	MYH14	NM_001145809.2(MYH14):c.5868C>T:p.Ala1956=	coding	Benign
19	50309185	C	T	C50309185T	MYH14	NM_001145809.2(MYH14):c.5960+8C>T	noncoding	Benign/Likely_benign
19	50309643	C	T	C50309643T	MYH14	NM_001145809.2(MYH14):c.5964C>T:p.Arg1988=	coding	Benign/Likely_benign
19	50309670	G	A	G50309670A	MYH14	NM_001145809.2(MYH14):c.5991G>A:p.Thr1997=	coding	Benign
19	50309691	A	T	A50309691T	MYH14	NM_001145809.2(MYH14):c.6012A>T:p.Leu2004=	coding	Benign
19	50309912	A	C	A50309912C	MYH14	NM_001145809.2(MYH14):c.*122A>C	noncoding	Benign
19	50310006	T	G	T50310006G	MYH14	NM_001145809.2(MYH14):c.*216T>G	noncoding	Benign
19	50310092	G	A	G50310092A	MYH14	NM_001145809.2(MYH14):c.*302G>A	noncoding	Benign
19	50310179	C	G	C50310179G	MYH14	NM_001145809.2(MYH14):c.*389C>G	noncoding	Benign
19	50320579	G	A	G50320579A	KCNC3	NM_004977.2(KCNC3):c.2170+14C>T	noncoding	Benign/Likely_benign
19	50320670	C	T	C50320670T	KCNC3	NM_004977.2(KCNC3):c.2093G>A:p.Arg698His	coding	Benign
19	50323024	G	A	G50323024A	KCNC3	NM_004977.2(KCNC3):c.1929C>T:p.Gly643=	coding	Benign
19	50323078	C	A	C50323078A	KCNC3	NM_004977.3(KCNC3):c.1875G>T:p.Arg625Ser	coding	Benign
19	50323182	T	C	T50323182C	KCNC3	NM_004977.3(KCNC3):c.1771A>G:p.Ser591Gly	coding	Benign
19	50323193	G	A	G50323193A	KCNC3	NM_004977.2(KCNC3):c.1760C>T:p.Pro587Leu	coding	Benign
19	50323201	C	T	C50323201T	KCNC3	NM_004977.2(KCNC3):c.1752G>A:p.Pro584=	coding	Benign
19	50323312	C	T	C50323312T	KCNC3	NM_004977.2(KCNC3):c.1641G>A:p.Ser547=	coding	Benign/Likely_benign
19	50323390	C	T	C50323390T	KCNC3	NM_004977.2(KCNC3):c.1563G>A:p.Ala521=	coding	Benign
19	50323414	C	T	C50323414T	KCNC3	NM_004977.3(KCNC3):c.1539G>A:p.Thr513=	coding	Benign
19	50323510	G	A	G50323510A	KCNC3	NM_004977.3(KCNC3):c.1443C>T:p.Gly481=	coding	Benign
19	50323549	G	A	G50323549A	KCNC3	NM_004977.2(KCNC3):c.1404C>T:p.Tyr468=	coding	Benign
19	50323609	G	C	G50323609C	KCNC3	NM_004977.2(KCNC3):c.1344C>G:p.Phe448Leu	coding	Pathogenic
19	50323609	G	T	G50323609T	KCNC3	NM_004977.2(KCNC3):c.1344C>A:p.Phe448Leu	coding	Pathogenic
19	50323670	G	A	G50323670A	KCNC3	NM_004977.2(KCNC3):c.1283C>T:p.Thr428Ile	coding	Pathogenic
19	50323685	C	T	C50323685T	KCNC3	NM_004977.2(KCNC3):c.1268G>A:p.Arg423His	coding	Pathogenic
19	50323694	C	T	C50323694T	KCNC3	NM_004977.2(KCNC3):c.1259G>A:p.Arg420His	coding	Pathogenic
19	50323738	G	A	G50323738A	KCNC3	NM_004977.3(KCNC3):c.1215C>T:p.Ala405=	coding	Benign
19	50323963	G	A	G50323963A	KCNC3	NM_004977.3(KCNC3):c.990C>T:p.Pro330=	coding	Benign
19	50323969	C	T	C50323969T	KCNC3	NM_004977.2(KCNC3):c.984G>A:p.Pro328=	coding	Benign
19	50328434	C	T	C50328434T	KCNC3	NM_004977.3(KCNC3):c.649G>A:p.Ala217Thr	coding	Benign
19	50328504	G	C	G50328504C	KCNC3	NM_004977.2(KCNC3):c.579C>G:p.Arg193=	coding	Benign
19	50328768	C	G	C50328768G	KCNC3	NM_004977.2(KCNC3):c.315G>C:p.Thr105=	coding	Benign
19	50328895	T	C	T50328895C	KCNC3	NM_004977.2(KCNC3):c.188A>G:p.Asp63Gly	coding	Benign
19	50328956	G	A	G50328956A	KCNC3	NM_004977.2(KCNC3):c.127C>T:p.Pro43Ser	coding	Benign
19	50328960	C	A	C50328960A	KCNC3	NM_004977.2(KCNC3):c.123G>T:p.Gln41His	coding	Benign/Likely_benign
19	50358594	G	C	G50358594C	NAPSA	NM_004851.3(NAPSA):c.1222C>G:p.Leu408Val	coding	Benign
19	50359817	C	T	C50359817T	NAPSA	NM_004851.3(NAPSA):c.714G>A:p.Ser238=	coding	Benign
19	50384437	G	C	G50384437C	POLD1	NM_002691.4(POLD1):c.-2+47G>C	noncoding	Benign
19	50398884	C	T	C50398884T	POLD1	NM_002691.4(POLD1):c.33C>T:p.Pro11=	coding	Benign
19	50398907	G	A	G50398907A	POLD1	NM_002691.4(POLD1):c.56G>A:p.Arg19His	coding	Benign/Likely_benign
19	50398939	C	T	C50398939T	POLD1	NM_002691.4(POLD1):c.88C>T:p.Arg30Trp	coding	Benign
19	50399125	G	A	G50399125A	POLD1	NM_002691.4(POLD1):c.202+72G>A	noncoding	Benign
19	50399402	C	G	C50399402G	POLD1	NM_002691.4(POLD1):c.234C>G:p.Arg78=	coding	Benign
19	50399426	G	A	G50399426A	POLD1	NM_002691.4(POLD1):c.258G>A:p.Ala86=	coding	Benign/Likely_benign
19	50401736	C	T	C50401736T	POLD1	NM_002691.4(POLD1):c.317-42C>T	noncoding	Benign
19	50401785	G	A	G50401785A	POLD1	NM_002691.4(POLD1):c.324G>A:p.Ala108=	coding	Benign
19	50401785	G	T	G50401785T	POLD1	NM_002691.4(POLD1):c.324G>T:p.Ala108=	coding	Benign/Likely_benign
19	50401817	G	A	G50401817A	POLD1	NM_002691.4(POLD1):c.356G>A:p.Arg119His	coding	Benign
19	50401839	C	T	C50401839T	POLD1	NM_002691.4(POLD1):c.378C>T:p.Arg126=	coding	Benign/Likely_benign
19	50401894	G	A	G50401894A	POLD1	NM_002691.4(POLD1):c.433G>A:p.Ala145Thr	coding	Benign/Likely_benign
19	50401932	G	T	G50401932T	POLD1	NM_002691.4(POLD1):c.463+8G>T	noncoding	Benign/Likely_benign
19	50401933	C	T	C50401933T	POLD1	NM_002691.4(POLD1):c.463+9C>T	noncoding	Benign
19	50402053	G	A	G50402053A	POLD1	NM_002691.4(POLD1):c.518G>A:p.Ser173Asn	coding	Benign
19	50402066	C	T	C50402066T	POLD1	NM_002691.4(POLD1):c.531C>T:p.Arg177=	coding	Benign/Likely_benign
19	50402221	C	T	C50402221T	POLD1	NM_002691.4(POLD1):c.606C>T:p.His202=	coding	Benign/Likely_benign
19	50402227	C	T	C50402227T	POLD1	NM_002691.4(POLD1):c.612C>T:p.His204=	coding	Benign/Likely_benign
19	50402239	G	A	G50402239A	POLD1	NM_002691.4(POLD1):c.624G>A:p.Pro208=	coding	Benign/Likely_benign
19	50402266	G	A	G50402266A	POLD1	NM_002691.4(POLD1):c.651G>A:p.Pro217=	coding	Benign/Likely_benign
19	50402278	C	A	C50402278A	POLD1	NM_002691.4(POLD1):c.663C>A:p.Ala221=	coding	Benign/Likely_benign
19	50402281	G	A	G50402281A	POLD1	NM_002691.4(POLD1):c.666G>A:p.Pro222=	coding	Benign/Likely_benign
19	50402329	G	A	G50402329A	POLD1	NM_002691.4(POLD1):c.714G>A:p.Thr238=	coding	Benign/Likely_benign
19	50402468	C	T	C50402468T	POLD1	NM_002691.4(POLD1):c.773C>T:p.Thr258Met	coding	Benign/Likely_benign
19	50402473	A	G	A50402473G	POLD1	NM_002691.4(POLD1):c.778A>G:p.Ile260Val	coding	Benign/Likely_benign
19	50402478	C	T	C50402478T	POLD1	NM_002691.4(POLD1):c.783C>T:p.Val261=	coding	Benign/Likely_benign
19	50402505	T	C	T50402505C	POLD1	NM_002691.4(POLD1):c.810T>C:p.Ala270=	coding	Benign
19	50402620	G	T	G50402620T	POLD1	NM_002691.4(POLD1):c.849G>T:p.Gln283His	coding	Benign/Likely_benign
19	50402656	G	C	G50402656C	POLD1	NM_002691.4(POLD1):c.885G>C:p.Val295=	coding	Benign/Likely_benign
19	50402671	G	A	G50402671A	POLD1	NM_002691.4(POLD1):c.900G>A:p.Pro300=	coding	Benign/Likely_benign
19	50402716	C	T	C50402716T	POLD1	NM_002691.4(POLD1):c.945C>T:p.Phe315=	coding	Benign/Likely_benign
19	50402728	C	T	C50402728T	POLD1	NM_002691.4(POLD1):c.957C>T:p.Cys319=	coding	Benign/Likely_benign
19	50402769	C	T	C50402769T	POLD1	NM_002691.4(POLD1):c.970+28C>T	noncoding	Benign
19	50402841	C	T	C50402841T	POLD1	NM_002691.4(POLD1):c.970+100C>T	noncoding	Benign
19	50403041	C	T	C50403041T	POLD1	NM_002691.4(POLD1):c.971-12C>T	noncoding	Benign
19	50403049	G	A	G50403049A	POLD1	NM_002691.4(POLD1):c.971-4G>A	noncoding	Benign/Likely_benign
19	50403099	G	T	G50403099T	POLD1	NM_002691.4(POLD1):c.1017G>T:p.Ser339=	coding	Benign/Likely_benign
19	50403174	G	C	G50403174C	POLD1	NM_002691.4(POLD1):c.1092G>C:p.Leu364=	coding	Benign/Likely_benign
19	50403485	A	G	A50403485G	POLD1	NM_002691.4(POLD1):c.1138-8A>G	noncoding	Benign/Likely_benign
19	50403528	C	T	C50403528T	POLD1	NM_002691.4(POLD1):c.1173C>T:p.Asp391=	coding	Benign
19	50406132	T	G	T50406132G	POLD1	NM_002691.4(POLD1):c.1243-50T>G	noncoding	Benign
19	50406148	G	A	G50406148A	POLD1	NM_002691.4(POLD1):c.1243-34G>A	noncoding	Benign
19	50406214	C	T	C50406214T	POLD1	NM_002691.4(POLD1):c.1275C>T:p.Ala425=	coding	Benign/Likely_benign
19	50406330	C	T	C50406330T	POLD1	NM_002691.4(POLD1):c.1383+8C>T	noncoding	Benign/Likely_benign
19	50406444	T	C	T50406444C	POLD1	NM_002691.4(POLD1):c.1421T>C:p.Leu474Pro	coding	Pathogenic/Likely_pathogenic
19	50406456	G	A	G50406456A	POLD1	NM_002691.4(POLD1):c.1433G>A:p.Ser478Asn	coding	Pathogenic/Likely_pathogenic
19	50406508	C	T	C50406508T	POLD1	NM_002691.4(POLD1):c.1485C>T:p.Thr495=	coding	Benign
19	50406522	C	T	C50406522T	POLD1	NM_002691.4(POLD1):c.1494+5C>T	noncoding	Benign/Likely_benign
19	50406991	C	T	C50406991T	POLD1	NM_002691.4(POLD1):c.1503C>T:p.Asn501=	coding	Benign/Likely_benign
19	50407027	G	A	G50407027A	POLD1	NM_002691.4(POLD1):c.1539G>A:p.Leu513=	coding	Benign
19	50407036	C	T	C50407036T	POLD1	NM_002691.4(POLD1):c.1548C>T:p.Ala516=	coding	Benign
19	50407084	C	T	C50407084T	POLD1	NM_002691.4(POLD1):c.1596C>T:p.Ala532=	coding	Benign/Likely_benign
19	50407096	G	A	G50407096A	POLD1	NM_002691.4(POLD1):c.1608G>A:p.Ala536=	coding	Benign/Likely_benign
19	50407114	C	T	C50407114T	POLD1	NM_002691.4(POLD1):c.1626C>T:p.Pro542=	coding	Benign/Likely_benign
19	50407153	C	T	C50407153T	POLD1	NM_002691.4(POLD1):c.1665C>T:p.Val555=	coding	Benign/Likely_benign
19	50407277	C	T	C50407277T	POLD1	NM_002691.4(POLD1):c.1687-50C>T	noncoding	Benign
19	50407281	C	T	C50407281T	POLD1	NM_002691.4(POLD1):c.1687-46C>T	noncoding	Benign
19	50407353	C	T	C50407353T	POLD1	NM_002691.4(POLD1):c.1713C>T:p.Pro571=	coding	Benign
19	50407371	C	T	C50407371T	POLD1	NM_002691.4(POLD1):c.1731C>T:p.Gly577=	coding	Benign/Likely_benign
19	50407401	C	T	C50407401T	POLD1	NM_002691.4(POLD1):c.1761C>T:p.Ile587=	coding	Benign
19	50408794	C	T	C50408794T	POLD1	NM_002691.4(POLD1):c.1785C>T:p.Asp595=	coding	Benign/Likely_benign
19	50408869	G	A	G50408869A	POLD1	NM_002691.4(POLD1):c.1860G>A:p.Thr620=	coding	Benign
19	50409115	A	G	A50409115G	POLD1	NM_002691.4(POLD1):c.1893-7A>G	noncoding	Benign
19	50409116	A	C	A50409116C	POLD1	NM_002691.4(POLD1):c.1893-6A>C	noncoding	Benign/Likely_benign
19	50409161	C	G	C50409161G	POLD1	NM_002691.4(POLD1):c.1932C>G:p.Asp644Glu	coding	Benign/Likely_benign
19	50409161	C	T	C50409161T	POLD1	NM_002691.4(POLD1):c.1932C>T:p.Asp644=	coding	Benign/Likely_benign
19	50409436	G	A	G50409436A	POLD1	NM_002691.4(POLD1):c.2007-83G>A	noncoding	Benign
19	50409515	G	A	G50409515A	POLD1	NM_002691.4(POLD1):c.2007-4G>A	noncoding	Benign/Likely_benign
19	50409615	C	T	C50409615T	POLD1	NM_002691.4(POLD1):c.2103C>T:p.Tyr701=	coding	Benign/Likely_benign
19	50413314	A	G	A50413314G	POLD1	NM_002691.4(POLD1):c.2155-112A>G	noncoding	Benign
19	50413420	C	T	C50413420T	POLD1	NM_002691.4(POLD1):c.2155-6C>T	noncoding	Benign/Likely_benign
19	50413434	G	A	G50413434A	POLD1	NM_002691.4(POLD1):c.2163G>A:p.Thr721=	coding	Benign/Likely_benign
19	50413515	T	C	T50413515C	POLD1	NM_002691.4(POLD1):c.2244T>C:p.Ser748=	coding	Benign
19	50413734	G	A	G50413734A	POLD1	NM_002691.4(POLD1):c.2251-8G>A	noncoding	Benign/Likely_benign
19	50413828	G	A	G50413828A	POLD1	NM_002691.4(POLD1):c.2337G>A:p.Ala779=	coding	Benign/Likely_benign
19	50414972	G	A	G50414972A	POLD1	NM_002691.4(POLD1):c.2546G>A:p.Arg849His	coding	Benign
19	50415087	A	G	A50415087G	POLD1	NM_002691.4(POLD1):c.2564+97A>G	noncoding	Benign
19	50415258	G	A	G50415258A	POLD1	NM_002691.4(POLD1):c.2565-180G>A	noncoding	Benign
19	50415450	C	T	C50415450T	POLD1	NM_002691.4(POLD1):c.2577C>T:p.Gly859=	coding	Benign/Likely_benign
19	50415501	C	T	C50415501T	POLD1	NM_002691.4(POLD1):c.2628C>T:p.Ile876=	coding	Benign
19	50415573	C	T	C50415573T	POLD1	NM_002691.4(POLD1):c.2700C>T:p.His900=	coding	Benign/Likely_benign
19	50415712	A	G	A50415712G	POLD1	NM_002691.4(POLD1):c.2718-12A>G	noncoding	Benign
19	50416407	C	T	C50416407T	POLD1	NM_002691.4(POLD1):c.2832C>T:p.Phe944=	coding	Benign/Likely_benign
19	50416437	G	C	G50416437C	POLD1	NM_002691.4(POLD1):c.2862G>C:p.Thr954=	coding	Benign
19	50416540	C	T	C50416540T	POLD1	NM_002691.4(POLD1):c.2953+12C>T	noncoding	Benign
19	50416611	G	T	G50416611T	POLD1	NM_002691.4(POLD1):c.2955G>T:p.Arg985=	coding	Benign/Likely_benign
19	50416623	G	A	G50416623A	POLD1	NM_002691.4(POLD1):c.2967G>A:p.Thr989=	coding	Benign/Likely_benign
19	50416635	G	A	G50416635A	POLD1	NM_002691.4(POLD1):c.2979G>A:p.Thr993=	coding	Benign/Likely_benign
19	50416644	G	A	G50416644A	POLD1	NM_002691.4(POLD1):c.2988G>A:p.Thr996=	coding	Benign/Likely_benign
19	50416671	C	T	C50416671T	POLD1	NM_002691.4(POLD1):c.3015C>T:p.Phe1005=	coding	Benign/Likely_benign
19	50416843	T	C	T50416843C	POLD1	NM_002691.4(POLD1):c.3067+120T>C	noncoding	Benign
19	50417153	C	T	C50417153T	POLD1	NM_002691.4(POLD1):c.3121-19C>T	noncoding	Benign
19	50417207	G	A	G50417207A	POLD1	NM_002691.4(POLD1):c.3156G>A:p.Ser1052=	coding	Benign/Likely_benign
19	50417249	C	T	C50417249T	POLD1	NM_002691.4(POLD1):c.3198C>T:p.His1066=	coding	Benign/Likely_benign
19	50417255	C	T	C50417255T	POLD1	NM_002691.4(POLD1):c.3204C>T:p.Asp1068=	coding	Benign/Likely_benign
19	50417278	C	T	C50417278T	POLD1	NM_002691.4(POLD1):c.3218+9C>T	noncoding	Benign
19	50417279	A	G	A50417279G	POLD1	NM_002691.4(POLD1):c.3218+10A>G	noncoding	Benign/Likely_benign
19	50417301	C	T	C50417301T	POLD1	NM_002691.4(POLD1):c.3218+32C>T	noncoding	Benign
19	50419939	C	T	C50419939T	SPIB	NM_003121.5(SPIB):c.24-7C>T	noncoding	Benign
19	50423008	G	C	G50423008C	SPIB	NM_003121.5(SPIB):c.310G>C:p.Ala104Pro	coding	Benign
19	50423748	C	T	C50423748T	SPIB	NM_003121.5(SPIB):c.483C>T:p.Ser161=	coding	Benign
19	50629521	G	C	G50629521C	SYT3	NM_001160329.2(SYT3):c.1063-9C>G	noncoding	Benign
19	50630170	A	G	A50630170G	SYT3	NM_001160329.2(SYT3):c.676T>C:p.Tyr226His	coding	Benign
19	50662163	C	T	C50662163T	SHANK1	NM_016148.5(SHANK1):c.6288G>A:p.Gly2096=	coding	Benign
19	50662180	C	A	C50662180A	SHANK1	NM_016148.5(SHANK1):c.6271G>T:p.Gly2091Cys	coding	Benign
19	50662565	G	A	G50662565A	SHANK1	NM_016148.5(SHANK1):c.5886C>T:p.Ala1962=	coding	Benign
19	50666827	C	A	C50666827A	SHANK1	NM_016148.5(SHANK1):c.5133G>T:p.Gly1711=	coding	Benign
19	50666890	G	A	G50666890A	SHANK1	NM_016148.5(SHANK1):c.5070C>T:p.Thr1690=	coding	Benign
19	50667113	G	T	G50667113T	SHANK1	NM_016148.5(SHANK1):c.4847C>A:p.Thr1616Asn	coding	Benign
19	50667310	G	A	G50667310A	SHANK1	NM_016148.5(SHANK1):c.4650C>T:p.Pro1550=	coding	Benign
19	50667545	C	A	C50667545A	SHANK1	NM_016148.5(SHANK1):c.4415G>T:p.Gly1472Val	coding	Benign
19	50688904	C	G	C50688904G	SHANK1	NM_016148.5(SHANK1):c.2112G>C:p.Ser704=	coding	Benign
19	50689251	A	G	A50689251G	SHANK1	NM_016148.5(SHANK1):c.1993T>C:p.Leu665=	coding	Benign
19	50697127	C	A	C50697127A	SHANK1	NM_016148.5(SHANK1):c.1938-5G>T	noncoding	Benign
19	50697636	G	A	G50697636A	SHANK1	NM_016148.5(SHANK1):c.1890C>T:p.Leu630=	coding	Benign
19	50702549	G	A	G50702549A	SHANK1	NM_016148.5(SHANK1):c.1665C>T:p.Pro555=	coding	Benign
19	50702664	C	T	C50702664T	SHANK1	NM_016148.5(SHANK1):c.1554-4G>A	noncoding	Benign
19	50704135	G	T	G50704135T	SHANK1	NM_016148.5(SHANK1):c.1207C>A:p.Arg403=	coding	Benign
19	50711440	G	A	G50711440A	SHANK1	NM_016148.5(SHANK1):c.1008C>T:p.Tyr336=	coding	Benign
19	50712112	C	T	C50712112T	SHANK1	NM_016148.5(SHANK1):c.795G>A:p.Ala265=	coding	Benign
19	50712122	C	T	C50712122T	SHANK1	NM_016148.5(SHANK1):c.793-8G>A	noncoding	Benign
19	50713921	G	A	G50713921A	SHANK1	NM_016148.5(SHANK1):c.669C>T:p.Thr223=	coding	Benign
19	50714240	C	T	C50714240T	SHANK1	NM_016148.5(SHANK1):c.582G>A:p.Lys194=	coding	Benign
19	50790783	C	T	C50790783T	ACP4	NM_033068.3(ACP4):c.226C>T:p.Arg76Cys	coding	Pathogenic
19	50791683	C	T	C50791683T	ACP4	NM_033068.3(ACP4):c.331C>T:p.Arg111Cys	coding	Pathogenic
19	50791727	C	T	C50791727T	ACP4	NM_033068.3(ACP4):c.375C>T:p.Pro125=	coding	Benign
19	50791734	G	C	G50791734C	ACP4	NM_033068.3(ACP4):c.382G>C:p.Ala128Pro	coding	Pathogenic
19	50791749	G	A	G50791749A	ACP4	NM_033068.3(ACP4):c.397G>A:p.Glu133Lys	coding	Pathogenic
19	50791780	C	T	C50791780T	ACP4	NM_033068.3(ACP4):c.428C>T:p.Thr143Met	coding	Pathogenic
19	50792233	C	T	C50792233T	ACP4	NM_033068.3(ACP4):c.550-9C>T	noncoding	Benign
19	50792238	C	T	C50792238T	ACP4	NM_033068.3(ACP4):c.550-4C>T	noncoding	Benign
19	50793751	C	T	C50793751T	ACP4	NM_033068.3(ACP4):c.713C>T:p.Ser238Leu	coding	Pathogenic
19	50793784	C	T	C50793784T	ACP4	NM_033068.3(ACP4):c.746C>T:p.Pro249Leu	coding	Pathogenic
19	50794578	G	C	G50794578C	ACP4	NM_033068.3(ACP4):c.983G>C:p.Gly328Ala	coding	Benign
19	50798141	G	A	G50798141A	C19orf48	NM_199249.2(C19orf48):c.308C>T:p.Pro103Leu	coding	Benign
19	50798158	G	A	G50798158A	C19orf48	NM_199249.2(C19orf48):c.291C>T:p.Thr97=	coding	Benign
19	50798170	T	C	T50798170C	C19orf48	NM_199249.2(C19orf48):c.279A>G:p.Ser93=	coding	Benign
19	50798430	C	T	C50798430T	C19orf48	NM_199249.2(C19orf48):c.19G>A:p.Val7Ile	coding	Benign
19	50819965	G	A	G50819965A	KLK1	NM_002257.4(KLK1):c.567C>T:p.His189=	coding	Benign
19	50823725	G	A	G50823725A	KLK1	NM_002257.4(KLK1):c.24C>T:p.Leu8=	coding	Benign
19	50856287	G	A	G50856287A	KLK3	NM_001648.2(KLK3):c.94G>A:p.Glu32Lys	coding	Benign
19	50856309	A	T	A50856309T	KLK3	NM_001648.2(KLK3):c.116A>T:p.Gln39Leu	coding	Benign
19	50860022	G	A	G50860022A	KLK3	NM_001648.2(KLK3):c.681G>A:p.Thr227=	coding	Benign
19	50906915	G	A	G50906915A	KLK4	NM_004917.4(KLK4):c.*19C>T	noncoding	Benign
19	50908495	C	T	C50908495T	KLK4	NM_004917.4(KLK4):c.476G>A:p.Gly159Asp	coding	Benign
19	50908596	C	T	C50908596T	KLK4	NM_004917.4(KLK4):c.458G>A:p.Trp153Ter	coding	Pathogenic
19	50908754	G	A	G50908754A	KLK4	NM_004917.4(KLK4):c.300C>T:p.Ser100=	coding	Benign
19	50908757	G	T	G50908757T	KLK4	NM_004917.4(KLK4):c.297C>A:p.Ala99=	coding	Benign
19	50909410	C	A	C50909410A	KLK4	NM_004917.4(KLK4):c.66G>T:p.Ser22=	coding	Benign
19	50963515	G	A	G50963515A	KLK6	NM_002774.4(KLK6):c.232C>T:p.Arg78Trp	coding	Benign
19	50977573	G	A	G50977573A	KLK7	NM_005046.4(KLK7):c.725C>T:p.Thr242Ile	coding	Benign
19	50977620	G	A	G50977620A	KLK7	NM_005046.4(KLK7):c.678C>T:p.Cys226=	coding	Benign
19	50977674	C	A	C50977674A	KLK7	NM_005046.4(KLK7):c.624G>T:p.Pro208=	coding	Benign
19	50980268	G	A	G50980268A	KLK7	NM_005046.4(KLK7):c.441C>T:p.Ser147=	coding	Benign
19	51032027	C	T	C51032027T	KLK12	NM_145894.2(KLK12):c.306G>A:p.Ser102=	coding	Benign
19	51034102	G	A	G51034102A	KLK12	NM_145894.2(KLK12):c.75C>T:p.Gly25=	coding	Benign
19	51125348	G	A	G51125348A	SIGLEC9	NM_001198558.1(SIGLEC9):c.374G>A:p.Ser125Asn	coding	Benign
19	51128453	G	A	G51128453A	SIGLEC9	NM_001198558.1(SIGLEC9):c.1146G>A:p.Ala382=	coding	Benign
19	51128486	C	T	C51128486T	SIGLEC9	NM_001198558.1(SIGLEC9):c.1179C>T:p.Asn393=	coding	Benign
19	51144513	A	G	A51144513G	SIGLEC7	NM_014385.3(SIGLEC7):c.541A>G:p.Met181Val	coding	Benign
19	51225219	G	A	G51225219A	CD33	NM_001772.4(CD33):c.39G>A:p.Gly13=	coding	Benign
19	51225311	T	C	T51225311C	CD33	NM_001772.4(CD33):c.131T>C:p.Phe44Ser	coding	Benign
19	51225373	G	C	G51225373C	CD33	NM_001772.4(CD33):c.193G>C:p.Ala65Pro	coding	Benign
19	51225563	G	A	G51225563A	CD33	NM_001772.4(CD33):c.383G>A:p.Ser128Asn	coding	Benign
19	51225590	A	G	A51225590G	CD33	NM_001772.4(CD33):c.410A>G:p.His137Arg	coding	Benign
19	51225960	T	C	T51225960C	CD33	NM_001772.4(CD33):c.576T>C:p.Thr192=	coding	Benign
19	51334311	G	A	G51334311A	VSIG10L	NM_001163922.2(VSIG10L):c.2306-7C>T	noncoding	Benign
19	51338058	C	T	C51338058T	VSIG10L	NM_001163922.2(VSIG10L):c.1880G>A:p.Arg627His	coding	Benign
19	51340423	C	T	C51340423T	VSIG10L	NM_001163922.2(VSIG10L):c.1189+10G>A	noncoding	Benign
19	51341816	A	T	A51341816T	VSIG10L	NM_001163922.2(VSIG10L):c.232T>A:p.Ser78Thr	coding	Benign
19	51345361	G	A	G51345361A	ETFB	NM_001985.3(ETFB):c.618C>T:p.Ile206=	coding	Benign
19	51345570	A	G	A51345570G	ETFB	NM_001985.3(ETFB):c.598-189T>C	noncoding	Benign
19	51345580	A	G	A51345580G	ETFB	NM_001985.3(ETFB):c.598-199T>C	noncoding	Benign
19	51346673	G	C	G51346673C	ETFB	NM_001985.3(ETFB):c.597+227C>G	noncoding	Benign
19	51346709	C	T	C51346709T	ETFB	NM_001985.3(ETFB):c.597+191G>A	noncoding	Benign
19	51347036	G	A	G51347036A	ETFB	NM_001985.3(ETFB):c.461C>T:p.Thr154Met	coding	Benign
19	51347050	G	A	G51347050A	ETFB	NM_001985.3(ETFB):c.447C>T:p.Phe149=	coding	Benign
19	51347231	T	C	T51347231C	ETFB	NM_001985.3(ETFB):c.439-173A>G	noncoding	Benign
19	51347252	C	T	C51347252T	ETFB	NM_001985.3(ETFB):c.439-194G>A	noncoding	Benign
19	51347343	T	C	T51347343C	ETFB	NM_001985.3(ETFB):c.439-285A>G	noncoding	Benign
19	51347379	G	A	G51347379A	ETFB	NM_001985.3(ETFB):c.439-321C>T	noncoding	Benign
19	51350098	A	G	A51350098G	ETFB	NM_001985.3(ETFB):c.438+231T>C	noncoding	Benign
19	51350309	G	A	G51350309A	ETFB	NM_001985.3(ETFB):c.438+20C>T	noncoding	Benign
19	51350385	C	T	C51350385T	ETFB	NM_001985.3(ETFB):c.382G>A:p.Asp128Asn	coding	Pathogenic
19	51350570	C	T	C51350570T	ETFB	NM_001985.3(ETFB):c.376-179G>A	noncoding	Benign
19	51350618	G	A	G51350618A	ETFB	NM_001985.3(ETFB):c.376-227C>T	noncoding	Benign
19	51353254	G	A	G51353254A	ETFB	NM_001985.3(ETFB):c.253C>T:p.Arg85Ter	coding	Pathogenic
19	51353294	C	A	C51353294A	ETFB	NM_001985.3(ETFB):c.217-4G>T	noncoding	Benign
19	51353350	C	T	C51353350T	ETFB	NM_001985.3(ETFB):c.217-60G>A	noncoding	Benign
19	51353365	T	C	T51353365C	ETFB	NM_001985.3(ETFB):c.217-75A>G	noncoding	Benign
19	51353377	G	A	G51353377A	ETFB	NM_001985.3(ETFB):c.217-87C>T	noncoding	Benign
19	51353387	G	C	G51353387C	ETFB	NM_001985.3(ETFB):c.217-97C>G	noncoding	Benign
19	51354450	C	T	C51354450T	ETFB	NM_001985.3(ETFB):c.58-142G>A	coding	Benign
19	51354484	G	A	G51354484A	ETFB	NM_001985.3(ETFB):c.58-176C>T	coding	Benign
19	51366012	T	C	T51366012C	ETFB	NM_001985.3(ETFB):c.57+258A>G	noncoding	Benign
19	51366362	C	G	C51366362G	ETFB	NM_001985.3(ETFB):c.-36G>C	noncoding	Benign
19	51366496	A	G	A51366496G	ETFB	NC_000019.10:g.51366496A>G	noncoding	Benign
19	51372042	T	C	T51372042C	NKG7	NM_005601.4(NKG7):c.337A>G:p.Thr113Ala	coding	Benign
19	51372311	A	T	A51372311T	NKG7	NM_005601.4(NKG7):c.158-4T>A	noncoding	Benign
19	51380262	C	T	C51380262T	LIM2	NM_001161748.2(LIM2):c.461G>A:p.Gly154Glu	coding	Pathogenic
19	51382430	A	C	A51382430C	LIM2	NM_001161748.2(LIM2):c.313T>G:p.Phe105Val	coding	Pathogenic
19	51387258	G	A	G51387258A	LIM2	NM_001161748.2(LIM2):c.175+11C>T	coding	Benign/Likely_benign
19	51413725	G	T	G51413725T	SIGLEC10	NM_033130.5(SIGLEC10):c.1808C>A:p.Thr603Lys	coding	Benign
19	51413754	C	T	C51413754T	SIGLEC10	NM_033130.5(SIGLEC10):c.1779G>A:p.Thr593=	coding	Benign
19	51414834	C	G	C51414834G	SIGLEC10	NM_033130.5(SIGLEC10):c.1605G>C:p.Leu535=	coding	Benign
19	51415221	T	A	T51415221A	SIGLEC10	NM_033130.5(SIGLEC10):c.1290A>T:p.Pro430=	coding	Benign
19	51416744	T	C	T51416744C	SIGLEC10	NM_033130.5(SIGLEC10):c.628A>G:p.Asn210Asp	coding	Benign
19	51416811	G	A	G51416811A	SIGLEC10	NM_033130.5(SIGLEC10):c.561C>T:p.Ser187=	coding	Benign
19	51416956	A	G	A51416956G	SIGLEC10	NM_033130.5(SIGLEC10):c.422-6T>C	noncoding	Benign
19	51452586	A	C	A51452586C	SIGLEC8	NM_014442.3(SIGLEC8):c.1293T>G:p.Pro431=	coding	Benign
19	51457463	G	A	G51457463A	SIGLEC8	NM_014442.3(SIGLEC8):c.731C>T:p.Ser244Phe	coding	Benign
19	51458250	G	A	G51458250A	SIGLEC8	NM_014442.3(SIGLEC8):c.138C>T:p.Pro46=	coding	Benign
19	51528229	C	T	C51528229T	SIGLEC6	NM_001245.7(SIGLEC6):c.1037G>A:p.Gly346Asp	coding	Benign
19	51531295	C	A	C51531295A	SIGLEC6	NM_001245.7(SIGLEC6):c.292G>T:p.Asp98Tyr	coding	Benign
19	51531585	C	G	C51531585G	SIGLEC6	NM_001245.7(SIGLEC6):c.64G>C:p.Ala22Pro	coding	Benign
19	51628043	T	C	T51628043C	SIGLEC5	NM_003830.3(SIGLEC5):c.788A>G:p.Gln263Arg	coding	Benign
19	51629045	G	A	G51629045A	SIGLEC5	NM_003830.3(SIGLEC5):c.732C>T:p.Asn244=	coding	Benign
19	51644020	G	A	G51644020A	SIGLEC14	NM_001098612.2(SIGLEC14):c.771C>T:p.Ser257=	coding	Benign
19	51745958	T	G	T51745958G	FPR1	NM_002029.4(FPR1):c.1037A>C:p.Glu346Ala	coding	Benign
19	51746002	G	A	G51746002A	FPR1	NM_002029.4(FPR1):c.993C>T:p.Thr331=	coding	Benign
19	51746173	G	A	G51746173A	FPR1	NM_002029.3(FPR1):c.822C>T:p.Gly274=	coding	Benign
19	51746189	C	T	C51746189T	FPR1	NM_002029.3(FPR1):c.806G>A:p.Arg269His	coding	Benign
19	51746350	G	A	G51746350A	FPR1	NM_002029.3(FPR1):c.645C>T:p.Ser215=	coding	Benign
19	51746419	A	C	A51746419C	FPR1	NM_002029.4(FPR1):c.576T>G:p.Asn192Lys	coding	Benign
19	51746427	T	A	T51746427A	FPR1	NM_002029.4(FPR1):c.568A>T:p.Arg190Trp	coding	Benign
19	51746449	G	T	G51746449T	FPR1	NM_002029.4(FPR1):c.546C>A:p.Pro182=	coding	Benign
19	51746507	C	T	C51746507T	FPR1	NM_002029.3(FPR1):c.488G>A:p.Arg163His	coding	Benign
19	51746647	G	A	G51746647A	FPR1	NM_002029.3(FPR1):c.348C>T:p.Ile116=	coding	Benign
19	51746689	A	G	A51746689G	FPR1	NM_002029.3(FPR1):c.306T>C:p.Phe102=	coding	Benign
19	51746694	C	G	C51746694G	FPR1	NM_002029.4(FPR1):c.301G>C:p.Val101Leu	coding	Benign
19	51746706	G	T	G51746706T	FPR1	NM_002029.3(FPR1):c.289C>A:p.Leu97Met	coding	Benign
19	51746818	G	A	G51746818A	FPR1	NM_002029.3(FPR1):c.177C>T:p.Val59=	coding	Benign
19	51746878	G	A	G51746878A	FPR1	NM_002029.3(FPR1):c.117C>T:p.Leu39=	coding	Benign
19	51746963	A	G	A51746963G	FPR1	NM_002029.4(FPR1):c.32T>C:p.Ile11Thr	coding	Benign
19	51768878	T	C	T51768878C	FPR2	NM_001005738.2(FPR2):c.220T>C:p.Phe74Leu	coding	Benign
19	51965074	G	A	G51965074A	ZNF350	NM_021632.4(ZNF350):c.1379C>T:p.Ala460Val	coding	Benign
19	52034081	C	T	C52034081T	ZNF432	NM_014650.4(ZNF432):c.1598G>A:p.Arg533Gln	coding	Benign
19	52190171	T	G	T52190171G	PPP2R1A	NM_014225.6(PPP2R1A):c.75T>G:p.Val25=	coding	Benign/Likely_benign
19	52206052	C	T	C52206052T	PPP2R1A	NM_014225.6(PPP2R1A):c.259C>T:p.His87Tyr	coding	Benign
19	52211326	C	A	C52211326A	PPP2R1A	NM_014225.6(PPP2R1A):c.337C>A:p.Arg113=	coding	Benign
19	52212718	C	T	C52212718T	PPP2R1A	NM_014225.6(PPP2R1A):c.536C>T:p.Pro179Leu	coding	Pathogenic
19	52212726	C	T	C52212726T	PPP2R1A	NM_014225.6(PPP2R1A):c.544C>T:p.Arg182Trp	coding	Pathogenic/Likely_pathogenic
19	52213076	G	A	G52213076A	PPP2R1A	NM_014225.6(PPP2R1A):c.773G>A:p.Arg258His	coding	Pathogenic
19	52219804	C	T	C52219804T	PPP2R1A	NM_014225.6(PPP2R1A):c.1242C>T:p.Asp414=	coding	Benign
19	52220183	C	T	C52220183T	PPP2R1A	NM_014225.6(PPP2R1A):c.1303-6C>T	noncoding	Benign
19	52220257	C	G	C52220257G	PPP2R1A	NM_014225.6(PPP2R1A):c.1363+8C>G	noncoding	Benign
19	52553318	G	C	G52553318C	ZNF808	NM_001039886.4(ZNF808):c.402G>C:p.Lys134Asn	coding	Benign
19	52553936	G	A	G52553936A	ZNF808	NM_001039886.4(ZNF808):c.1020G>A:p.Glu340=	coding	Benign
19	52554239	C	T	C52554239T	ZNF808	NM_001039886.4(ZNF808):c.1323C>T:p.Thr441=	coding	Benign
19	52555588	T	C	T52555588C	ZNF808	NM_001039886.4(ZNF808):c.2672T>C:p.Ile891Thr	coding	Benign
19	53267008	T	C	T53267008C	VN1R4	NM_173857.2(VN1R4):c.658A>G:p.Asn220Asp	coding	Benign
19	53351112	C	T	C53351112T	ZNF845	NM_138374.3(ZNF845):c.437C>T:p.Ser146Leu	coding	Benign
19	53571727	C	T	C53571727T	ZNF331	NM_001079906.2(ZNF331):c.133C>T:p.Leu45=	coding	Benign
19	53576886	A	T	A53576886T	ZNF331	NM_001079906.2(ZNF331):c.326A>T:p.Lys109Ile	coding	Benign
19	53577934	G	A	G53577934A	ZNF331	NM_001079906.2(ZNF331):c.1374G>A:p.Gln458=	coding	Benign
19	53636878	C	T	C53636878T	DPRX	NM_001012728.1(DPRX):c.466C>T:p.Arg156Ter	coding	Pathogenic
19	53793931	C	T	C53793931T	NLRP12	NM_144687.3(NLRP12):c.*118G>A	noncoding	Benign
19	53793980	G	T	G53793980T	NLRP12	NM_144687.3(NLRP12):c.*69C>A	noncoding	Benign
19	53794083	C	G	C53794083G	NLRP12	NM_144687.3(NLRP12):c.3152G>C:p.Arg1051Pro	coding	Benign
19	53794089	G	A	G53794089A	NLRP12	NM_144687.3(NLRP12):c.3146C>T:p.Ala1049Val	coding	Benign
19	53795869	G	C	G53795869C	NLRP12	NM_144687.3(NLRP12):c.3088C>G:p.Arg1030Gly	coding	Benign
19	53795933	G	A	G53795933A	NLRP12	NM_144687.3(NLRP12):c.3024C>T:p.Asn1008=	coding	Benign
19	53795953	C	T	C53795953T	NLRP12	NM_144687.3(NLRP12):c.3004G>A:p.Asp1002Asn	coding	Benign
19	53798226	C	T	C53798226T	NLRP12	NM_144687.4(NLRP12):c.2927+17G>A	noncoding	Benign
19	53798229	T	C	T53798229C	NLRP12	NM_144687.3(NLRP12):c.2927+14A>G	noncoding	Benign
19	53798340	G	T	G53798340T	NLRP12	NM_144687.3(NLRP12):c.2830C>A:p.Arg944=	coding	Benign/Likely_benign
19	53798379	C	A	C53798379A	NLRP12	NM_144687.3(NLRP12):c.2791G>T:p.Glu931Ter	coding	Pathogenic
19	53798385	C	T	C53798385T	NLRP12	NM_144687.4(NLRP12):c.2785G>A:p.Ala929Thr	coding	Benign/Likely_benign
19	53798386	G	A	G53798386A	NLRP12	NM_144687.3(NLRP12):c.2784C>T:p.Ala928=	coding	Benign
19	53801228	G	A	G53801228A	NLRP12	NM_144687.3(NLRP12):c.2755C>T:p.Arg919Trp	coding	Benign
19	53801229	C	G	C53801229G	NLRP12	NM_144687.3(NLRP12):c.2754G>C:p.Leu918=	coding	Benign
19	53801282	C	G	C53801282G	NLRP12	NM_144687.3(NLRP12):c.2701G>C:p.Val901Leu	coding	Benign
19	53801310	C	T	C53801310T	NLRP12	NM_144687.4(NLRP12):c.2673G>A:p.Leu891=	coding	Benign/Likely_benign
19	53801383	C	T	C53801383T	NLRP12	NM_144687.3(NLRP12):c.2600G>A:p.Arg867His	coding	Benign/Likely_benign
19	53803958	G	C	G53803958C	NLRP12	NM_144687.3(NLRP12):c.2579C>G:p.Thr860Ser	coding	Benign/Likely_benign
19	53803961	C	T	C53803961T	NLRP12	NM_144687.3(NLRP12):c.2576G>A:p.Arg859Gln	coding	Benign
19	53804068	G	A	G53804068A	NLRP12	NM_144687.3(NLRP12):c.2469C>T:p.Leu823=	coding	Benign
19	53804068	G	T	G53804068T	NLRP12	NM_144687.3(NLRP12):c.2469C>A:p.Leu823=	coding	Benign
19	53804095	C	T	C53804095T	NLRP12	NM_144687.3(NLRP12):c.2442G>A:p.Gly814=	coding	Benign
19	53805300	C	T	C53805300T	NLRP12	NM_144687.3(NLRP12):c.2394=:p.Gln798=	coding	Benign
19	53805385	T	G	T53805385G	NLRP12	NM_144687.3(NLRP12):c.2309A>C:p.Lys770Thr	coding	Benign/Likely_benign
19	53805436	C	T	C53805436T	NLRP12	NM_144687.4(NLRP12):c.2258G>A:p.Arg753His	coding	Benign
19	53807511	T	G	T53807511G	NLRP12	NM_144687.3(NLRP12):c.2227A>C:p.Lys743Gln	coding	Benign/Likely_benign
19	53807553	C	T	C53807553T	NLRP12	NM_144687.4(NLRP12):c.2185G>A:p.Gly729Arg	coding	Benign
19	53807573	C	T	C53807573T	NLRP12	NM_144687.3(NLRP12):c.2165G>A:p.Arg722Gln	coding	Benign
19	53807597	T	C	T53807597C	NLRP12	NM_144687.3(NLRP12):c.2141A>G:p.Asn714Ser	coding	Benign/Likely_benign
19	53809778	C	T	C53809778T	NLRP12	NM_144687.4(NLRP12):c.1881G>A:p.Gln627=	coding	Benign
19	53809928	C	T	C53809928T	NLRP12	NM_144687.3(NLRP12):c.1731G>A:p.Lys577=	coding	Benign
19	53810060	G	A	G53810060A	NLRP12	NM_144687.3(NLRP12):c.1599C>T:p.Gly533=	coding	Benign
19	53810222	C	T	C53810222T	NLRP12	NM_144687.3(NLRP12):c.1437G>A:p.Gln479=	coding	Benign
19	53810307	C	T	C53810307T	NLRP12	NM_144687.3(NLRP12):c.1352G>A:p.Arg451His	coding	Benign
19	53810312	G	C	G53810312C	NLRP12	NM_144687.3(NLRP12):c.1347C>G:p.Ala449=	coding	Benign
19	53810343	A	T	A53810343T	NLRP12	NM_144687.4(NLRP12):c.1316T>A:p.Leu439Gln	coding	Benign
19	53810360	T	C	T53810360C	NLRP12	NM_144687.3(NLRP12):c.1299A>G:p.Ala433=	coding	Benign
19	53810436	C	T	C53810436T	NLRP12	NM_144687.3(NLRP12):c.1223G>A:p.Trp408Ter	coding	Pathogenic
19	53810453	G	C	G53810453C	NLRP12	NM_144687.3(NLRP12):c.1206C>G:p.Phe402Leu	coding	Benign
19	53810489	G	A	G53810489A	NLRP12	NM_144687.3(NLRP12):c.1170C>T:p.Tyr390=	coding	Benign
19	53810489	G	T	G53810489T	NLRP12	NM_144687.3(NLRP12):c.1170C>A:p.Tyr390Ter	coding	Pathogenic
19	53810596	C	T	C53810596T	NLRP12	NM_144687.3(NLRP12):c.1063G>A:p.Glu355Lys	coding	Benign
19	53810690	A	C	A53810690C	NLRP12	NM_144687.3(NLRP12):c.969T>G:p.Leu323=	coding	Benign/Likely_benign
19	53810699	C	T	C53810699T	NLRP12	NM_144687.3(NLRP12):c.960G>A:p.Thr320=	coding	Benign
19	53810703	G	C	G53810703C	NLRP12	NM_144687.3(NLRP12):c.956C>G:p.Pro319Arg	coding	Benign
19	53810777	G	C	G53810777C	NLRP12	NM_144687.3(NLRP12):c.882C>G:p.Asp294Glu	coding	Pathogenic
19	53810828	C	T	C53810828T	NLRP12	NM_144687.4(NLRP12):c.831G>A:p.Ala277=	coding	Benign
19	53810840	A	G	A53810840G	NLRP12	NM_144687.3(NLRP12):c.819T>C:p.Pro273=	coding	Benign
19	53811050	G	A	G53811050A	NLRP12	NM_144687.3(NLRP12):c.609C>T:p.Asp203=	coding	Benign
19	53811235	C	T	C53811235T	NLRP12	NM_144687.3(NLRP12):c.424G>A:p.Asp142Asn	coding	Benign
19	53814980	G	A	G53814980A	NLRP12	NM_144687.3(NLRP12):c.298C>T:p.Pro100Ser	coding	Benign/Likely_benign
19	53814987	A	G	A53814987G	NLRP12	NM_144687.3(NLRP12):c.291T>C:p.Asp97=	coding	Benign/Likely_benign
19	53823868	G	A	G53823868A	NLRP12	NM_144687.3(NLRP12):c.289+18C>T	noncoding	Benign
19	53824059	C	A	C53824059A	NLRP12	NM_144687.3(NLRP12):c.116G>T:p.Gly39Val	coding	Benign
19	53824156	T	C	T53824156C	NLRP12	NM_144687.4(NLRP12):c.19A>G:p.Arg7Gly	coding	Benign
19	53824161	G	T	G53824161T	NLRP12	NM_144687.3(NLRP12):c.14C>A:p.Ala5Glu	coding	Benign/Likely_benign
19	53824186	G	A	G53824186A	NLRP12	NM_144687.3(NLRP12):c.-12C>T	noncoding	Benign
19	53824281	C	T	C53824281T	NLRP12	NM_144687.3(NLRP12):c.-107G>A	noncoding	Benign
19	53824314	A	T	A53824314T	NLRP12	NM_144687.3(NLRP12):c.-140T>A	noncoding	Benign
19	53882566	C	T	C53882566T	PRKCG	NM_002739.5(PRKCG):c.72C>T:p.Ala24=	coding	Benign
19	53882570	A	G	A53882570G	PRKCG	NM_002739.5(PRKCG):c.76A>G:p.Arg26Gly	coding	Pathogenic
19	53882616	G	C	G53882616C	PRKCG	NM_002739.5(PRKCG):c.122G>C:p.Arg41Pro	coding	Pathogenic
19	53883180	G	T	G53883180T	PRKCG	NM_002739.5(PRKCG):c.188G>T:p.Gly63Val	coding	Pathogenic
19	53884165	C	T	C53884165T	PRKCG	NM_002739.5(PRKCG):c.207C>T:p.Cys69=	coding	Benign
19	53884184	C	T	C53884184T	PRKCG	NM_002739.5(PRKCG):c.226C>T:p.Arg76Ter	coding	Pathogenic
19	53884187	T	A	T53884187A	PRKCG	NM_002739.5(PRKCG):c.229T>A:p.Cys77Ser	coding	Pathogenic
19	53884243	C	G	C53884243G	PRKCG	NM_002739.5(PRKCG):c.285C>G:p.Asp95Glu	coding	Benign
19	53884243	C	T	C53884243T	PRKCG	NM_002739.5(PRKCG):c.285C>T:p.Asp95=	coding	Benign/Likely_benign
19	53889626	C	A	C53889626A	PRKCG	NM_002739.5(PRKCG):c.286-12C>A	noncoding	Benign
19	53889653	C	T	C53889653T	PRKCG	NM_002739.5(PRKCG):c.301C>T:p.His101Tyr	coding	Pathogenic
19	53889654	A	G	A53889654G	PRKCG	NM_002739.5(PRKCG):c.302A>G:p.His101Arg	coding	Pathogenic
19	53889655	C	G	C53889655G	PRKCG	NM_002739.5(PRKCG):c.303C>G:p.His101Gln	coding	Pathogenic
19	53889693	G	A	G53889693A	PRKCG	NM_002739.5(PRKCG):c.341G>A:p.Cys114Tyr	coding	Pathogenic
19	53889705	G	A	G53889705A	PRKCG	NM_002739.5(PRKCG):c.353G>A:p.Gly118Asp	coding	Pathogenic
19	53889707	T	C	T53889707C	PRKCG	NM_002739.5(PRKCG):c.355T>C:p.Ser119Pro	coding	Pathogenic
19	53889719	G	A	G53889719A	PRKCG	NM_002739.5(PRKCG):c.367G>A:p.Gly123Arg	coding	Pathogenic
19	53889720	G	A	G53889720A	PRKCG	NM_002739.5(PRKCG):c.368G>A:p.Gly123Glu	coding	Pathogenic
19	53889732	A	G	A53889732G	PRKCG	NM_002739.5(PRKCG):c.380A>G:p.Gln127Arg	coding	Pathogenic
19	53889735	G	A	G53889735A	PRKCG	NM_002739.5(PRKCG):c.383G>A:p.Gly128Asp	coding	Pathogenic
19	53889743	T	C	T53889743C	PRKCG	NM_002739.5(PRKCG):c.391T>C:p.Cys131Arg	coding	Pathogenic
19	53889901	T	A	T53889901A	PRKCG	NM_002739.5(PRKCG):c.413T>A:p.Val138Glu	coding	Pathogenic
19	53889905	C	A	C53889905A	PRKCG	NM_002739.5(PRKCG):c.417C>A:p.His139Gln	coding	Pathogenic
19	53889986	G	T	G53889986T	PRKCG	NM_002739.5(PRKCG):c.498G>T:p.Arg166=	coding	Benign
19	53891667	C	T	C53891667T	PRKCG	NM_002739.5(PRKCG):c.530-7C>T	noncoding	Benign
19	53891668	G	A	G53891668A	PRKCG	NM_002739.5(PRKCG):c.530-6G>A	noncoding	Benign
19	53891711	T	C	T53891711C	PRKCG	NM_002739.5(PRKCG):c.567T>C:p.Asn189=	coding	Benign
19	53891782	G	A	G53891782A	PRKCG	NM_002739.5(PRKCG):c.638G>A:p.Arg213Gln	coding	Benign
19	53891786	G	A	G53891786A	PRKCG	NM_002739.5(PRKCG):c.642G>A:p.Thr214=	coding	Benign
19	53891844	G	T	G53891844T	PRKCG	NM_002739.5(PRKCG):c.686+14G>T	noncoding	Benign
19	53892536	C	T	C53892536T	PRKCG	NM_002739.5(PRKCG):c.714C>T:p.Arg238=	coding	Benign
19	53892589	T	C	T53892589C	PRKCG	NM_002739.5(PRKCG):c.767T>C:p.Met256Thr	coding	Pathogenic
19	53892632	C	T	C53892632T	PRKCG	NM_002739.5(PRKCG):c.810C>T:p.Pro270=	coding	Benign
19	53898097	G	A	G53898097A	PRKCG	NM_002739.5(PRKCG):c.1078G>A:p.Gly360Ser	coding	Pathogenic
19	53898100	A	G	A53898100G	PRKCG	NM_002739.5(PRKCG):c.1081A>G:p.Ser361Gly	coding	Pathogenic
19	53898637	G	C	G53898637C	PRKCG	NM_002739.5(PRKCG):c.1281+9G>C	noncoding	Benign/Likely_benign
19	53900449	C	G	C53900449G	PRKCG	NM_002739.5(PRKCG):c.1404C>G:p.Leu468=	coding	Benign
19	53900612	G	T	G53900612T	PRKCG	NM_002739.5(PRKCG):c.1438G>T:p.Asp480Tyr	coding	Pathogenic
19	53900671	T	C	T53900671C	PRKCG	NM_002739.5(PRKCG):c.1497T>C:p.Phe499=	coding	Benign
19	53904700	C	T	C53904700T	PRKCG	NM_002739.5(PRKCG):c.1722C>T:p.Tyr574=	coding	Benign
19	53906388	C	T	C53906388T	PRKCG	NM_002739.5(PRKCG):c.1836C>T:p.Gly612=	coding	Benign
19	53906728	T	C	T53906728C	PRKCG	NM_002739.5(PRKCG):c.1927T>C:p.Phe643Leu	coding	Pathogenic
19	53906742	C	T	C53906742T	PRKCG	NM_002739.5(PRKCG):c.1941C>T:p.Phe647=	coding	Benign
19	53906860	A	G	A53906860G	PRKCG	NM_002739.5(PRKCG):c.2059A>G:p.Ser687Gly	coding	Benign
19	53907094	C	T	C53907094T	PRKCG	NM_002739.5(PRKCG):c.*199C>T	noncoding	Benign
19	53907323	C	G	C53907323G	PRKCG	NM_002739.5(PRKCG):c.*428C>G	noncoding	Benign
19	53907491	C	T	C53907491T	PRKCG	NM_002739.5(PRKCG):c.*596C>T	noncoding	Benign
19	53907565	T	C	T53907565C	PRKCG	NM_002739.5(PRKCG):c.*670T>C	noncoding	Benign
19	54118443	G	A	G54118443A	PRPF31	NM_015629.4(PRPF31):c.165G>A:p.Trp55Ter	coding	Pathogenic
19	54118571	A	G	A54118571G	PRPF31	NM_015629.4(PRPF31):c.178-2A>G	noncoding	Pathogenic
19	54118612	A	T	A54118612T	PRPF31	NM_015629.4(PRPF31):c.217A>T:p.Lys73Ter	coding	Pathogenic
19	54118615	C	T	C54118615T	PRPF31	NM_015629.4(PRPF31):c.220C>T:p.Gln74Ter	coding	Pathogenic
19	54121847	C	T	C54121847T	PRPF31	NM_015629.4(PRPF31):c.239-13C>T	noncoding	Benign
19	54121944	G	A	G54121944A	PRPF31	NM_015629.4(PRPF31):c.322+1G>A	coding	Pathogenic
19	54122601	G	A	G54122601A	PRPF31	NM_015629.4(PRPF31):c.420+7G>A	noncoding	Benign
19	54123499	C	T	C54123499T	PRPF31	NM_015629.4(PRPF31):c.466C>T:p.Gln156Ter	coding	Pathogenic
19	54123561	G	T	G54123561T	PRPF31	NM_015629.4(PRPF31):c.527+1G>T	coding	Pathogenic
19	54123563	A	G	A54123563G	PRPF31	NM_015629.4(PRPF31):c.527+3A>G	noncoding	Pathogenic
19	54123760	C	A	C54123760A	PRPF31	NM_015629.4(PRPF31):c.539C>A:p.Ser180Ter	coding	Pathogenic
19	54123785	G	A	G54123785A	PRPF31	NM_015629.4(PRPF31):c.564G>A:p.Glu188=	coding	Benign
19	54123794	C	A	C54123794A	PRPF31	NM_015629.4(PRPF31):c.573C>A:p.Cys191Ter	coding	Pathogenic/Likely_pathogenic
19	54123802	C	A	C54123802A	PRPF31	NM_015629.4(PRPF31):c.581C>A:p.Ala194Glu	coding	Pathogenic
19	54123836	C	A	C54123836A	PRPF31	NM_015629.4(PRPF31):c.615C>A:p.Tyr205Ter	coding	Pathogenic
19	54123867	G	C	G54123867C	PRPF31	NM_015629.4(PRPF31):c.646G>C:p.Ala216Pro	coding	Pathogenic
19	54123919	G	A	G54123919A	PRPF31	NM_015629.4(PRPF31):c.697+1G>A	coding	Pathogenic
19	54124498	G	A	G54124498A	PRPF31	NM_015629.4(PRPF31):c.698-1G>A	noncoding	Pathogenic
19	54124536	C	T	C54124536T	PRPF31	NM_015629.4(PRPF31):c.735C>T:p.Pro245=	coding	Benign
19	54124657	G	A	G54124657A	PRPF31	NM_015629.4(PRPF31):c.855+1G>A	coding	Pathogenic
19	54126527	G	A	G54126527A	PRPF31	NM_015629.4(PRPF31):c.856-1G>A	noncoding	Pathogenic
19	54126567	T	C	T54126567C	PRPF31	NM_015629.4(PRPF31):c.895T>C:p.Cys299Arg	coding	Pathogenic
19	54128072	G	C	G54128072C	PRPF31	NM_015629.4(PRPF31):c.946-1G>C	noncoding	Pathogenic
19	54128100	G	T	G54128100T	PRPF31	NM_015629.4(PRPF31):c.973G>T:p.Glu325Ter	coding	Pathogenic
19	54128119	G	A	G54128119A	PRPF31	NM_015629.4(PRPF31):c.992G>A:p.Trp331Ter	coding	Pathogenic
19	54128175	C	T	C54128175T	PRPF31	NM_015629.4(PRPF31):c.1048C>T:p.Gln350Ter	coding	Pathogenic/Likely_pathogenic
19	54128201	G	A	G54128201A	PRPF31	NM_015629.4(PRPF31):c.1073+1G>A	coding	Pathogenic/Likely_pathogenic
19	54128303	A	G	A54128303G	PRPF31	NM_015629.4(PRPF31):c.1074-2A>G	noncoding	Pathogenic
19	54128303	A	T	A54128303T	PRPF31	NM_015629.4(PRPF31):c.1074-2A>T	noncoding	Pathogenic
19	54128339	G	T	G54128339T	PRPF31	NM_015629.4(PRPF31):c.1108G>T:p.Glu370Ter	coding	Pathogenic
19	54128351	C	T	C54128351T	PRPF31	NM_015629.4(PRPF31):c.1120C>T:p.Gln374Ter	coding	Pathogenic
19	54128372	G	T	G54128372T	PRPF31	NM_015629.4(PRPF31):c.1141G>T:p.Gly381Ter	coding	Pathogenic
19	54129140	A	G	A54129140G	PRPF31	NM_015629.4(PRPF31):c.1230A>G:p.Thr410=	coding	Benign
19	54129183	C	T	C54129183T	PRPF31	NM_015629.4(PRPF31):c.1273C>T:p.Gln425Ter	coding	Pathogenic
19	54129287	C	T	C54129287T	PRPF31	NM_015629.4(PRPF31):c.1291C>T:p.Gln431Ter	coding	Pathogenic
19	54129298	A	G	A54129298G	PRPF31	NM_015629.4(PRPF31):c.1302A>G:p.Val434=	coding	Benign
19	54130024	C	G	C54130024G	PRPF31	NM_015629.4(PRPF31):c.1374+654C>G	noncoding	Pathogenic
19	54131348	G	A	G54131348A	PRPF31	NM_015629.4(PRPF31):c.1416G>A:p.Val472=	coding	Benign
19	54131399	C	T	C54131399T	PRPF31	NM_015629.4(PRPF31):c.1467C>T:p.Val489=	coding	Benign
19	54131451	G	A	G54131451A	PRPF31	NM_015629.4(PRPF31):c.*19G>A	noncoding	Benign
19	54131478	G	A	G54131478A	PRPF31	NM_015629.4(PRPF31):c.*46G>A	noncoding	Benign
19	54152588	G	A	G54152588A	CNOT3	NM_014516.4(CNOT3):c.1866G>A:p.Trp622Ter	coding	Pathogenic
19	54153757	C	T	C54153757T	CNOT3	NM_014516.4(CNOT3):c.2080C>T:p.Gln694Ter	coding	Pathogenic
19	54180772	C	G	C54180772G	MBOAT7	NM_024298.5(MBOAT7):c.854+1G>C	noncoding	Pathogenic
19	54191403	G	A	G54191403A	TSEN34	NM_001077446.4(TSEN34):c.39G>A:p.Val13=	coding	Benign/Likely_benign
19	54191536	C	T	C54191536T	TSEN34	NM_001077446.4(TSEN34):c.172C>T:p.Arg58Trp	coding	Pathogenic
19	54191811	C	G	C54191811G	TSEN34	NM_001077446.4(TSEN34):c.334C>G:p.Leu112Val	coding	Benign
19	54191871	G	A	G54191871A	TSEN34	NM_001077446.4(TSEN34):c.394G>A:p.Gly132Arg	coding	Benign/Likely_benign
19	54192316	C	A	C54192316A	TSEN34	NM_001077446.4(TSEN34):c.688C>A:p.Arg230=	coding	Benign
19	54193391	G	A	G54193391A	TSEN34	NM_001077446.4(TSEN34):c.*29G>A	coding	Benign
19	54193471	A	G	A54193471G	TSEN34	NM_001077446.4(TSEN34):c.*109A>G	coding	Benign
19	54193537	T	C	T54193537C	TSEN34	NM_001077446.4(TSEN34):c.*175T>C	coding	Benign
19	54193607	A	C	A54193607C	TSEN34	NM_001077446.4(TSEN34):c.*245A>C	coding	Benign
19	54193747	A	C	A54193747C	TSEN34	NM_001077446.4(TSEN34):c.*385A>C	noncoding	Benign
19	54194227	A	G	A54194227G	TSEN34	NM_001077446.4(TSEN34):c.*865A>G	noncoding	Benign
19	54194290	A	G	A54194290G	TSEN34	NM_001077446.4(TSEN34):c.*928A>G	noncoding	Benign
19	54194490	G	T	G54194490T	TSEN34	NM_001077446.4(TSEN34):c.*1128G>T	noncoding	Benign
19	54194525	C	G	C54194525G	TSEN34	NM_001077446.4(TSEN34):c.*1163C>G	noncoding	Benign
19	54241620	C	T	C54241620T	LILRA6	NM_024318.4(LILRA6):c.614G>A:p.Arg205Gln	coding	Benign
19	54930534	T	C	T54930534C	NLRP7	NM_001127255.1(NLRP7):c.2775A>G:p.Ala925=	coding	Benign
19	54930571	T	C	T54930571C	NLRP7	NM_001127255.1(NLRP7):c.2738A>G:p.Asn913Ser	coding	Pathogenic
19	54930627	A	G	A54930627G	NLRP7	NM_001127255.1(NLRP7):c.2682T>C:p.Tyr894=	coding	Benign
19	54934488	C	T	C54934488T	NLRP7	NM_001127255.1(NLRP7):c.2471+1G>A	noncoding	Pathogenic
19	54934577	G	A	G54934577A	NLRP7	NM_001127255.1(NLRP7):c.2383C>T:p.Arg795Cys	coding	Benign
19	54936313	G	C	G54936313C	NLRP7	NM_001127255.1(NLRP7):c.2248C>G:p.Leu750Val	coding	Pathogenic
19	54938038	A	G	A54938038G	NLRP7	NM_001127255.1(NLRP7):c.2129+6T>C	noncoding	Benign
19	54938095	C	G	C54938095G	NLRP7	NM_001127255.1(NLRP7):c.2078G>C:p.Arg693Pro	coding	Pathogenic
19	54938095	C	T	C54938095T	NLRP7	NM_001127255.1(NLRP7):c.2078G>A:p.Arg693Gln	coding	Pathogenic
19	54938096	G	A	G54938096A	NLRP7	NM_001127255.1(NLRP7):c.2077C>T:p.Arg693Trp	coding	Pathogenic
19	54938222	G	A	G54938222A	NLRP7	NM_001127255.1(NLRP7):c.1951C>T:p.Pro651Ser	coding	Pathogenic
19	54939864	C	T	C54939864T	NLRP7	NM_001127255.1(NLRP7):c.955G>A:p.Val319Ile	coding	Benign
19	54940429	C	T	C54940429T	NLRP7	NM_001127255.1(NLRP7):c.390G>A:p.Gln130=	coding	Benign
19	54940930	C	T	C54940930T	NLRP7	NM_001127255.1(NLRP7):c.352+1G>A	noncoding	Pathogenic
19	54970026	C	T	C54970026T	NLRP2	NM_017852.5(NLRP2):c.11C>T:p.Ser4Leu	coding	Benign
19	54981618	G	C	G54981618C	NLRP2	NM_017852.5(NLRP2):c.399G>C:p.Ala133=	coding	Benign
19	54982773	T	C	T54982773C	NLRP2	NM_017852.5(NLRP2):c.1075T>C:p.Phe359Leu	coding	Benign
19	54982915	C	G	C54982915G	NLRP2	NM_017852.5(NLRP2):c.1217C>G:p.Thr406Arg	coding	Benign
19	54983168	C	A	C54983168A	NLRP2	NM_017852.5(NLRP2):c.1470C>A:p.Arg490=	coding	Benign
19	54983270	T	C	T54983270C	NLRP2	NM_017852.5(NLRP2):c.1572T>C:p.Asp524=	coding	Benign
19	54985187	C	T	C54985187T	NLRP2	NM_017852.5(NLRP2):c.2171C>T:p.Ala724Val	coding	Benign
19	54990056	G	A	G54990056A	NLRP2	NM_017852.5(NLRP2):c.2401G>A:p.Ala801Thr	coding	Benign
19	54994362	G	A	G54994362A	NLRP2	NM_017852.5(NLRP2):c.2802G>A:p.Leu934=	coding	Benign
19	54997357	C	G	C54997357G	NLRP2	NM_017852.5(NLRP2):c.2920C>G:p.Leu974Val	coding	Benign
19	55093207	C	T	C55093207T	PPP1R12C	NM_017607.4(PPP1R12C):c.1710G>A:p.Glu570=	coding	Benign
19	55096079	G	A	G55096079A	PPP1R12C	NM_017607.4(PPP1R12C):c.1125C>T:p.Asp375=	coding	Benign
19	55112503	T	G	T55112503G	PPP1R12C	NM_017607.4(PPP1R12C):c.535A>C:p.Met179Leu	coding	Benign
19	55132957	C	A	C55132957A	TNNT1	NM_003283.6(TNNT1):c.795G>T:p.Arg265=	coding	Benign
19	55133074	G	A	G55133074A	TNNT1	NM_003283.6(TNNT1):c.792-114C>T	noncoding	Benign
19	55133238	G	T	G55133238T	TNNT1	NM_003283.6(TNNT1):c.792-278C>A	noncoding	Benign
19	55133898	G	A	G55133898A	TNNT1	NM_003283.6(TNNT1):c.780C>T:p.His260=	coding	Benign
19	55133943	A	G	A55133943G	TNNT1	NM_003283.6(TNNT1):c.751-16T>C	noncoding	Benign
19	55134077	G	A	G55134077A	TNNT1	NM_003283.6(TNNT1):c.739C>T:p.Gln247Ter	coding	Pathogenic
19	55136902	G	A	G55136902A	TNNT1	NM_003283.6(TNNT1):c.611+201C>T	noncoding	Benign
19	55137176	C	A	C55137176A	TNNT1	NM_003283.6(TNNT1):c.538G>T:p.Glu180Ter	coding	Pathogenic
19	55137389	T	C	T55137389C	TNNT1	NM_003283.6(TNNT1):c.502-177A>G	noncoding	Benign
19	55140947	G	C	G55140947C	TNNT1	NM_003283.6(TNNT1):c.323C>G:p.Ser108Ter	coding	Pathogenic
19	55141344	G	C	G55141344C	TNNT1	NM_003283.6(TNNT1):c.193-42C>G	noncoding	Benign/Likely_benign
19	55141390	A	G	A55141390G	TNNT1	NM_003283.6(TNNT1):c.193-88T>C	noncoding	Benign
19	55141476	A	T	A55141476T	TNNT1	NM_003283.6(TNNT1):c.193-174T>A	noncoding	Benign
19	55141929	A	C	A55141929C	TNNT1	NM_003283.6(TNNT1):c.129-9T>G	noncoding	Benign/Likely_benign
19	55145673	C	A	C55145673A	TNNT1	NM_003283.6(TNNT1):c.107-108G>T	noncoding	Benign
19	55145701	T	A	T55145701A	TNNT1	NM_003283.6(TNNT1):c.107-136A>T	noncoding	Benign
19	55146367	C	T	C55146367T	TNNT1	NM_003283.6(TNNT1):c.106+67G>A	noncoding	Benign
19	55146720	G	A	G55146720A	TNNT1	NM_003283.6(TNNT1):c.47-13C>T	noncoding	Benign
19	55146799	G	C	G55146799C	TNNT1	NM_003283.6(TNNT1):c.47-92C>G	noncoding	Benign
19	55146854	T	C	T55146854C	TNNT1	NM_003283.6(TNNT1):c.47-147A>G	noncoding	Benign
19	55147019	T	C	T55147019C	TNNI3;TNNT1	NM_003283.6(TNNT1):c.35A>G:p.Glu12Gly	coding	Benign/Likely_benign
19	55147029	C	T	C55147029T	TNNI3;TNNT1	NM_003283.6(TNNT1):c.33-8G>A	noncoding	Benign/Likely_benign
19	55149169	T	C	T55149169C	TNNI3;TNNT1	NM_003283.6(TNNT1):c.-20A>G	noncoding	Benign/Likely_benign
19	55151850	T	A	T55151850A	TNNI3	NM_000363.5(TNNI3):c.617A>T:p.Lys206Ile	coding	Pathogenic
19	55151851	T	C	T55151851C	TNNI3	NM_000363.5(TNNI3):c.616A>G:p.Lys206Glu	coding	Pathogenic
19	55151851	T	G	T55151851G	TNNI3	NM_000363.5(TNNI3):c.616A>C:p.Lys206Gln	coding	Pathogenic
19	55151856	C	T	C55151856T	TNNI3	NM_000363.5(TNNI3):c.611G>A:p.Arg204His	coding	Pathogenic/Likely_pathogenic
19	55151858	G	A	G55151858A	TNNI3	NM_000363.5(TNNI3):c.609C>T:p.Gly203=	coding	Benign/Likely_benign
19	55151860	C	T	C55151860T	TNNI3	NM_000363.5(TNNI3):c.607G>A:p.Gly203Ser	coding	Pathogenic
19	55151892	C	T	C55151892T	TNNI3	NM_000363.5(TNNI3):c.575G>A:p.Arg192His	coding	Pathogenic
19	55151893	G	A	G55151893A	TNNI3	NM_000363.5(TNNI3):c.574C>T:p.Arg192Cys	coding	Pathogenic
19	55151898	T	C	T55151898C	TNNI3	NM_000363.5(TNNI3):c.569A>G:p.Asp190Gly	coding	Pathogenic
19	55151910	C	T	C55151910T	TNNI3	NM_000363.5(TNNI3):c.557G>A:p.Arg186Gln	coding	Pathogenic/Likely_pathogenic
19	55151912	G	C	G55151912C	TNNI3	NM_000363.5(TNNI3):c.555C>G:p.Asn185Lys	coding	Pathogenic
19	55151927	G	A	G55151927A	TNNI3	NM_000363.5(TNNI3):c.550-10C>T	noncoding	Benign/Likely_benign
19	55153902	T	G	T55153902G	TNNI3	NM_000363.5(TNNI3):c.549+128A>C	noncoding	Benign
19	55154031	T	G	T55154031G	TNNI3	NM_000363.5(TNNI3):c.548A>C:p.Lys183Thr	coding	Pathogenic
19	55154032	T	C	T55154032C	TNNI3	NM_000363.5(TNNI3):c.547A>G:p.Lys183Glu	coding	Pathogenic
19	55154035	C	T	C55154035T	TNNI3	NM_000363.5(TNNI3):c.544G>A:p.Glu182Lys	coding	Pathogenic/Likely_pathogenic
19	55154047	T	C	T55154047C	TNNI3	NM_000363.5(TNNI3):c.532A>G:p.Lys178Glu	coding	Pathogenic
19	55154056	G	A	G55154056A	TNNI3	NM_000363.5(TNNI3):c.523C>T:p.Gln175Ter	coding	Pathogenic
19	55154057	C	G	C55154057G	TNNI3	NM_000363.5(TNNI3):c.522G>C:p.Lys174Asn	coding	Pathogenic
19	55154070	C	T	C55154070T	TNNI3	NM_000363.5(TNNI3):c.509G>A:p.Arg170Gln	coding	Pathogenic
19	55154071	G	A	G55154071A	TNNI3	NM_000363.5(TNNI3):c.508C>T:p.Arg170Trp	coding	Pathogenic/Likely_pathogenic
19	55154082	G	A	G55154082A	TNNI3	NM_000363.5(TNNI3):c.497C>T:p.Ser166Phe	coding	Pathogenic/Likely_pathogenic
19	55154094	C	G	C55154094G	TNNI3	NM_000363.5(TNNI3):c.485G>C:p.Arg162Pro	coding	Pathogenic/Likely_pathogenic
19	55154094	C	T	C55154094T	TNNI3	NM_000363.5(TNNI3):c.485G>A:p.Arg162Gln	coding	Pathogenic/Likely_pathogenic
19	55154095	G	A	G55154095A	TNNI3	NM_000363.5(TNNI3):c.484C>T:p.Arg162Trp	coding	Pathogenic/Likely_pathogenic
19	55154109	G	A	G55154109A	TNNI3	NM_000363.5(TNNI3):c.470C>T:p.Ala157Val	coding	Pathogenic
19	55154145	C	T	C55154145T	TNNI3	NM_000363.5(TNNI3):c.434G>A:p.Arg145Gln	coding	Pathogenic/Likely_pathogenic
19	55154146	G	A	G55154146A	TNNI3	NM_000363.5(TNNI3):c.433C>T:p.Arg145Trp	coding	Pathogenic
19	55154146	G	C	G55154146C	TNNI3	NM_000363.5(TNNI3):c.433C>G:p.Arg145Gly	coding	Pathogenic
19	55154148	A	T	A55154148T	TNNI3	NM_000363.5(TNNI3):c.431T>A:p.Leu144Gln	coding	Pathogenic
19	55154157	C	T	C55154157T	TNNI3	NM_000363.5(TNNI3):c.422G>A:p.Arg141Gln	coding	Pathogenic/Likely_pathogenic
19	55154777	G	A	G55154777A	TNNI3	NM_000363.5(TNNI3):c.336C>T:p.Tyr112=	coding	Benign/Likely_benign
19	55156239	G	A	G55156239A	TNNI3	NM_000363.5(TNNI3):c.244C>T:p.Pro82Ser	coding	Benign/Likely_benign
19	55156285	C	T	C55156285T	TNNI3	NM_000363.5(TNNI3):c.198G>A:p.Glu66=	coding	Benign/Likely_benign
19	55156590	C	T	C55156590T	TNNI3;DNAAF3	NM_000363.5(TNNI3):c.150+13G>A	noncoding	Benign/Likely_benign
19	55156661	G	T	G55156661T	TNNI3	NM_000363.5(TNNI3):c.109-17C>A	noncoding	Benign
19	55156776	T	C	T55156776C	TNNI3	NM_000363.5(TNNI3):c.109-132A>G	noncoding	Benign
19	55157029	C	T	C55157029T	TNNI3	NM_000363.5(TNNI3):c.108+21G>A	noncoding	Benign
19	55157052	T	G	T55157052G	TNNI3	NM_000363.5(TNNI3):c.106A>C:p.Lys36Gln	coding	Pathogenic
19	55157097	G	A	G55157097A	TNNI3	NM_000363.5(TNNI3):c.61C>T:p.Arg21Cys	coding	Pathogenic
19	55157137	G	A	G55157137A	TNNI3	NM_000363.5(TNNI3):c.25-4C>T	noncoding	Benign/Likely_benign
19	55157141	A	T	A55157141T	TNNI3;DNAAF3	NM_000363.5(TNNI3):c.25-8T>A	noncoding	Benign/Likely_benign
19	55157294	A	T	A55157294T	TNNI3	NM_000363.5(TNNI3):c.24+2T>A	noncoding	Pathogenic
19	55157584	C	T	C55157584T	TNNI3	NM_000363.5(TNNI3):c.6G>A:p.Ala2=	coding	Benign/Likely_benign
19	55159283	C	T	C55159283T	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.1405G>A:p.Val469Met	coding	Benign/Likely_benign
19	55159457	T	C	T55159457C	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.1239-8A>G	noncoding	Benign/Likely_benign
19	55159621	G	A	G55159621A	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.1164-14C>T	noncoding	Benign/Likely_benign
19	55159889	C	A	C55159889A	DNAAF3	NM_001256715.2(DNAAF3):c.1163+10G>T	noncoding	Benign
19	55159927	G	A	G55159927A	DNAAF3	NM_001256715.2(DNAAF3):c.1135C>T:p.Arg379Ter	coding	Pathogenic
19	55160006	C	G	C55160006G	DNAAF3	NM_001256715.2(DNAAF3):c.1056G>C:p.Pro352=	coding	Benign
19	55160006	C	T	C55160006T	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.1056G>A:p.Pro352=	coding	Benign/Likely_benign
19	55160687	A	G	A55160687G	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.1001T>C:p.Leu334Pro	coding	Benign/Likely_benign
19	55160699	G	A	G55160699A	DNAAF3	NM_001256715.2(DNAAF3):c.989C>T:p.Thr330Ile	coding	Benign
19	55161102	T	C	T55161102C	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.875A>G:p.Glu292Gly	coding	Benign/Likely_benign
19	55161201	G	A	G55161201A	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.790-14C>T	noncoding	Benign/Likely_benign
19	55161416	A	G	A55161416G	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.666T>C:p.Ala222=	coding	Benign/Likely_benign
19	55161777	C	T	C55161777T	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.529G>A:p.Gly177Ser	coding	Benign/Likely_benign
19	55161796	T	C	T55161796C	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.510A>G:p.Val170=	coding	Benign/Likely_benign
19	55162263	C	T	C55162263T	DNAAF3	NM_001256715.2(DNAAF3):c.350G>A:p.Trp117Ter	coding	Pathogenic
19	55162286	T	C	T55162286C	TNNI3;DNAAF3	NM_001256715.2(DNAAF3):c.327A>G:p.Arg109=	coding	Benign/Likely_benign
19	55162307	A	C	A55162307C	DNAAF3	NM_001256715.2(DNAAF3):c.323-17T>G	noncoding	Benign
19	55165427	G	A	G55165427A	DNAAF3	NM_001256715.2(DNAAF3):c.265C>T:p.Arg89Ter	coding	Pathogenic
19	55165904	A	G	A55165904G	DNAAF3	NM_001256715.2(DNAAF3):c.182T>C:p.Leu61Pro	coding	Pathogenic
19	55166408	G	A	G55166408A	DNAAF3	NM_001256715.2(DNAAF3):c.6C>T:p.Thr2=	coding	Benign
19	55166518	C	A	C55166518A	DNAAF3	NM_001256715.2(DNAAF3):c.-5+5G>T	coding	Benign
19	55166577	G	A	G55166577A	DNAAF3	NM_001256715.2(DNAAF3):c.-59C>T	coding	Benign/Likely_benign
19	55166609	G	A	G55166609A	DNAAF3	NM_001256715.2(DNAAF3):c.-91C>T	coding	Benign
19	55230541	G	A	G55230541A	PPP6R1	NM_014931.4(PPP6R1):c.2643-10C>T	noncoding	Benign
19	55232126	G	A	G55232126A	PPP6R1	NM_014931.4(PPP6R1):c.2074C>T:p.Arg692Cys	coding	Benign
19	55241629	C	T	C55241629T	PPP6R1	NM_014931.4(PPP6R1):c.856G>A:p.Val286Met	coding	Benign
19	55279477	G	A	G55279477A	HSPBP1	NM_012267.5(HSPBP1):c.132C>T:p.Asn44=	coding	Benign
19	55303704	C	T	C55303704T	BRSK1	NM_032430.2(BRSK1):c.1164C>T:p.Ser388=	coding	Benign
19	55346308	C	T	C55346308T	KMT5C	NM_032701.4(KMT5C):c.666C>T:p.Phe222=	coding	Benign
19	55347206	C	A	C55347206A	KMT5C	NM_032701.4(KMT5C):c.1146C>A:p.Ala382=	coding	Benign
19	55347431	C	T	C55347431T	KMT5C	NM_032701.4(KMT5C):c.1371C>T:p.Val457=	coding	Benign
19	55366073	C	A	C55366073A	IL11	NM_000641.4(IL11):c.534G>T:p.Leu178=	coding	Benign
19	55384220	G	A	G55384220A	TMEM238	NM_001190764.2(TMEM238):c.40C>T:p.Pro14Ser	coding	Benign
19	55391634	T	C	T55391634C	RPL28	NM_000991.5(RPL28):c.*3302T>C	coding	Benign
19	55401541	C	T	C55401541T	UBE2S	NM_014501.3(UBE2S):c.564G>A:p.Pro188=	coding	Benign
19	55401578	T	G	T55401578G	UBE2S	NM_014501.3(UBE2S):c.527A>C:p.Glu176Ala	coding	Benign
19	55401610	G	A	G55401610A	UBE2S	NM_014501.3(UBE2S):c.495C>T:p.Ala165=	coding	Benign
19	55404345	G	A	G55404345A	UBE2S	NM_014501.3(UBE2S):c.285C>T:p.Cys95=	coding	Benign
19	55404483	A	T	A55404483T	UBE2S	NM_014501.3(UBE2S):c.152-5T>A	noncoding	Benign
19	55518206	C	T	C55518206T	SSC5D	NM_001144950.2(SSC5D):c.3930C>T:p.Thr1310=	coding	Benign
19	55518207	C	G	C55518207G	SSC5D	NM_001144950.2(SSC5D):c.3931C>G:p.Pro1311Ala	coding	Benign
19	55642752	C	A	C55642752A	ZNF580	NM_207115.2(ZNF580):c.244C>A:p.Pro82Thr	coding	Benign
19	55661159	C	T	C55661159T	U2AF2	NM_007279.2(U2AF2):c.456C>T:p.Tyr152=	coding	Benign
19	55661162	G	T	G55661162T	U2AF2	NM_007279.2(U2AF2):c.459G>T:p.Val153=	coding	Benign
19	55711948	G	A	G55711948A	NLRP9	NM_176820.4(NLRP9):c.2695C>T:p.Arg899Cys	coding	Benign
19	55712422	G	A	G55712422A	NLRP9	NM_176820.4(NLRP9):c.2670C>T:p.Leu890=	coding	Benign
19	55715091	G	A	G55715091A	NLRP9	NM_176820.4(NLRP9):c.2465C>T:p.Ala822Val	coding	Benign
19	55716738	C	T	C55716738T	NLRP9	NM_176820.4(NLRP9):c.2320G>A:p.Glu774Lys	coding	Benign
19	55732493	C	A	C55732493A	NLRP9	NM_176820.4(NLRP9):c.1338G>T:p.Leu446=	coding	Benign
19	55733417	T	C	T55733417C	NLRP9	NM_176820.4(NLRP9):c.414A>G:p.Ala138=	coding	Benign
19	55733471	A	G	A55733471G	NLRP9	NM_176820.4(NLRP9):c.360T>C:p.Pro120=	coding	Benign
19	55738213	A	G	A55738213G	NLRP9	NM_176820.4(NLRP9):c.162T>C:p.Asp54=	coding	Benign
19	55785653	G	A	G55785653A	NLRP11	NM_145007.3(NLRP11):c.3074C>T:p.Ser1025Leu	coding	Benign
19	55785798	T	G	T55785798G	NLRP11	NM_145007.3(NLRP11):c.2929A>C:p.Ile977Leu	coding	Benign
19	55792440	A	C	A55792440C	NLRP11	NM_145007.3(NLRP11):c.2374T>G:p.Cys792Gly	coding	Benign
19	55867859	G	A	G55867859A	NLRP4	NM_134444.5(NLRP4):c.2337G>A:p.Thr779=	coding	Benign
19	55877045	G	A	G55877045A	NLRP4	NM_134444.5(NLRP4):c.2575G>A:p.Ala859Thr	coding	Benign
19	55912213	G	A	G55912213A	NLRP13	NM_001321057.1(NLRP13):c.1604C>T:p.Thr535Ile	coding	Benign
19	55948044	G	A	G55948044A	NLRP8	NM_176811.2(NLRP8):c.142G>A:p.Val48Met	coding	Benign
19	56004101	C	T	C56004101T	NLRP5	NM_153447.4(NLRP5):c.442+6C>T	noncoding	Benign
19	56027004	T	C	T56027004C	NLRP5	NM_153447.4(NLRP5):c.771T>C:p.Ala257=	coding	Benign
19	56027130	C	T	C56027130T	NLRP5	NM_153447.4(NLRP5):c.897C>T:p.Ile299=	coding	Benign
19	56027147	A	G	A56027147G	NLRP5	NM_153447.4(NLRP5):c.914A>G:p.Gln305Arg	coding	Benign
19	56027305	T	C	T56027305C	NLRP5	NM_153447.4(NLRP5):c.1072T>C:p.Leu358=	coding	Benign
19	56027647	G	A	G56027647A	NLRP5	NM_153447.4(NLRP5):c.1414G>A:p.Ala472Thr	coding	Benign
19	56027823	C	G	C56027823G	NLRP5	NM_153447.4(NLRP5):c.1590C>G:p.Arg530=	coding	Benign
19	56032678	C	T	C56032678T	NLRP5	NM_153447.4(NLRP5):c.2344C>T:p.His782Tyr	coding	Benign
19	56038082	G	A	G56038082A	NLRP5	NM_153447.4(NLRP5):c.2673G>A:p.Thr891=	coding	Benign
19	56040955	C	T	C56040955T	NLRP5	NM_153447.4(NLRP5):c.2820C>T:p.Cys940=	coding	Benign
19	56050448	C	T	C56050448T	NLRP5	NM_153447.4(NLRP5):c.2988C>T:p.Gly996=	coding	Benign
19	56050468	C	T	C56050468T	NLRP5	NM_153447.4(NLRP5):c.3008C>T:p.Ala1003Val	coding	Benign
19	56053659	C	T	C56053659T	NLRP5	NM_153447.4(NLRP5):c.3150C>T:p.Thr1050=	coding	Benign
19	56053746	C	T	C56053746T	NLRP5	NM_153447.4(NLRP5):c.3237C>T:p.Asp1079=	coding	Benign
19	56053761	G	T	G56053761T	NLRP5	NM_153447.4(NLRP5):c.3252G>T:p.Ala1084=	coding	Benign
19	56053788	C	T	C56053788T	NLRP5	NM_153447.4(NLRP5):c.3279C>T:p.Asn1093=	coding	Benign
19	56061447	G	A	G56061447A	NLRP5	NM_153447.4(NLRP5):c.3522G>A:p.Val1174=	coding	Benign
19	56390027	C	G	C56390027G	ZNF582	NM_001320371.2(ZNF582):c.299G>C:p.Arg100Thr	coding	Benign
19	56621319	C	T	C56621319T	ZNF71	NM_001370215.1(ZNF71):c.212C>T:p.Ser71Leu	coding	Benign
19	56813741	G	A	G56813741A	PEG3	NM_006210.3(PEG3):c.4701C>T:p.Asp1567=	coding	Benign
19	56813936	T	A	T56813936A	PEG3	NM_006210.3(PEG3):c.4506A>T:p.Glu1502Asp	coding	Benign
19	56814075	G	A	G56814075A	PEG3	NM_006210.3(PEG3):c.4367C>T:p.Ala1456Val	coding	Benign
19	56814275	G	A	G56814275A	PEG3	NM_006210.3(PEG3):c.4167C>T:p.Gly1389=	coding	Benign
19	56814359	A	G	A56814359G	PEG3	NM_006210.3(PEG3):c.4083T>C:p.Asp1361=	coding	Benign
19	56814509	G	A	G56814509A	PEG3	NM_006210.3(PEG3):c.3933C>T:p.Tyr1311=	coding	Benign
19	56814611	G	A	G56814611A	PEG3	NM_006210.3(PEG3):c.3831C>T:p.Thr1277=	coding	Benign
19	56815559	T	C	T56815559C	PEG3	NM_006210.3(PEG3):c.2883A>G:p.Thr961=	coding	Benign
19	56815652	A	G	A56815652G	PEG3	NM_006210.3(PEG3):c.2790T>C:p.Arg930=	coding	Benign
19	56815927	C	G	C56815927G	PEG3	NM_006210.3(PEG3):c.2515G>C:p.Val839Leu	coding	Benign
19	56816052	C	A	C56816052A	PEG3	NM_006210.3(PEG3):c.2390G>T:p.Ser797Ile	coding	Benign
19	56816064	A	G	A56816064G	PEG3	NM_006210.3(PEG3):c.2378T>C:p.Val793Ala	coding	Benign
19	56816350	A	C	A56816350C	PEG3	NM_006210.3(PEG3):c.2092T>G:p.Ser698Ala	coding	Benign
19	56816571	T	C	T56816571C	PEG3	NM_006210.3(PEG3):c.1871A>G:p.Glu624Gly	coding	Benign
19	56816655	T	C	T56816655C	PEG3	NM_006210.3(PEG3):c.1787A>G:p.His596Arg	coding	Benign
19	56816845	C	A	C56816845A	PEG3	NM_006210.3(PEG3):c.1597G>T:p.Val533Leu	coding	Benign
19	56817509	G	A	G56817509A	PEG3	NM_006210.3(PEG3):c.933C>T:p.His311=	coding	Benign
19	56821692	C	T	C56821692T	PEG3	NM_006210.3(PEG3):c.628G>A:p.Glu210Lys	coding	Benign
19	56823683	A	C	A56823683C	PEG3	NM_006210.3(PEG3):c.395-4T>G	noncoding	Benign
19	56824431	C	T	C56824431T	PEG3	NM_006210.3(PEG3):c.225G>A:p.Leu75=	coding	Benign
19	57129296	G	A	G57129296A	USP29	NM_020903.2(USP29):c.621G>A:p.Arg207=	coding	Benign
19	57231104	G	C	G57231104C	AURKC	NM_001015878.2(AURKC):c.-145G>C	noncoding	Benign
19	57231121	C	T	C57231121T	AURKC	NM_001015878.2(AURKC):c.-128C>T	coding	Benign
19	57232163	A	G	A57232163G	AURKC	NM_001015878.2(AURKC):c.235A>G:p.Ile79Val	coding	Benign
19	57232641	G	A	G57232641A	AURKC	NM_001015878.2(AURKC):c.396G>A:p.Leu132=	coding	Benign/Likely_benign
19	57233451	C	T	C57233451T	AURKC	NM_001015878.2(AURKC):c.436-9C>T	noncoding	Benign
19	57233458	A	G	A57233458G	AURKC	NM_001015878.2(AURKC):c.436-2A>G	noncoding	Pathogenic
19	57234985	G	A	G57234985A	AURKC	NM_001015878.2(AURKC):c.686G>A:p.Cys229Tyr	coding	Pathogenic
19	57235455	G	A	G57235455A	AURKC	NM_001015878.2(AURKC):c.*38G>A	noncoding	Benign
19	57419915	C	T	C57419915T	ZNF17	NM_001330617.1(ZNF17):c.429C>T:p.His143=	coding	Benign
19	57493563	A	G	A57493563G	ZNF419	NM_024691.4(ZNF419):c.1006A>G:p.Ile336Val	coding	Benign
19	57678455	G	C	G57678455C	ZSCAN4	NM_152677.2(ZSCAN4):c.852G>C:p.Glu284Asp	coding	Benign
19	57720878	C	T	C57720878T	ZNF671	NM_024833.3(ZNF671):c.1208G>A:p.Gly403Glu	coding	Benign
19	57720895	A	G	A57720895G	ZNF671	NM_024833.3(ZNF671):c.1191T>C:p.Tyr397=	coding	Benign
19	57908853	A	G	A57908853G	ZNF417	NM_152475.3(ZNF417):c.1425T>C:p.Asn475=	coding	Benign
19	57909712	G	T	G57909712T	ZNF417	NM_152475.3(ZNF417):c.566C>A:p.Ala189Glu	coding	Benign
19	57916383	G	C	G57916383C	ZNF417	NM_152475.3(ZNF417):c.29C>G:p.Thr10Ser	coding	Benign
19	57979327	A	T	A57979327T	ZNF606	NM_025027.4(ZNF606):c.1353T>A:p.Thr451=	coding	Benign
19	57979671	T	G	T57979671G	ZNF606	NM_025027.4(ZNF606):c.1009A>C:p.Arg337=	coding	Benign
19	57980134	T	C	T57980134C	ZNF606	NM_025027.4(ZNF606):c.546A>G:p.Gln182=	coding	Benign
19	58063481	C	T	C58063481T	ZNF135	NM_007134.1(ZNF135):c.232C>T:p.Leu78=	coding	Benign
19	58066946	G	A	G58066946A	ZNF135	NM_007134.1(ZNF135):c.534G>A:p.Thr178=	coding	Benign
19	58067129	A	G	A58067129G	ZNF135	NM_007134.1(ZNF135):c.717A>G:p.Lys239=	coding	Benign
19	58068096	A	G	A58068096G	ZNF135	NM_007134.1(ZNF135):c.1684A>G:p.Ile562Val	coding	Benign
19	58068272	C	T	C58068272T	ZNF135	NM_007134.1(ZNF135):c.1860C>T:p.His620=	coding	Benign
19	58068329	T	C	T58068329C	ZNF135	NM_007134.1(ZNF135):c.1917T>C:p.Phe639=	coding	Benign
19	58480401	G	A	G58480401A	ZNF446	NM_017908.4(ZNF446):c.1028G>A:p.Trp343Ter	coding	Pathogenic
19	58498582	G	C	G58498582C	SLC27A5	NM_012254.3(SLC27A5):c.2006C>G:p.Ala669Gly	coding	Benign/Likely_benign
19	58499157	C	T	C58499157T	SLC27A5	NM_012254.3(SLC27A5):c.1731G>A:p.Leu577=	coding	Benign
19	58499202	C	T	C58499202T	SLC27A5	NM_012254.3(SLC27A5):c.1686G>A:p.Val562=	coding	Benign
19	58501308	C	T	C58501308T	SLC27A5	NM_012254.3(SLC27A5):c.1160G>A:p.Arg387Gln	coding	Benign/Likely_benign
19	58501343	G	A	G58501343A	SLC27A5	NM_012254.3(SLC27A5):c.1125C>T:p.Gly375=	coding	Benign
19	58509980	C	T	C58509980T	SLC27A5	NM_012254.3(SLC27A5):c.924G>A:p.Thr308=	coding	Benign
19	58510876	C	T	C58510876T	SLC27A5	NM_012254.3(SLC27A5):c.743G>A:p.Arg248His	coding	Benign
19	58511315	G	A	G58511315A	SLC27A5	NM_012254.3(SLC27A5):c.641C>T:p.Ala214Val	coding	Benign
19	58511456	G	A	G58511456A	SLC27A5	NM_012254.3(SLC27A5):c.500C>T:p.Ala167Val	coding	Benign
19	58511620	C	T	C58511620T	SLC27A5	NM_012254.3(SLC27A5):c.336G>A:p.Pro112=	coding	Benign
19	58511799	G	A	G58511799A	SLC27A5	NM_012254.3(SLC27A5):c.157C>T:p.Arg53Trp	coding	Benign
19	58511807	A	G	A58511807G	SLC27A5	NM_012254.3(SLC27A5):c.149T>C:p.Met50Thr	coding	Benign
19	58511846	A	C	A58511846C	SLC27A5	NM_012254.3(SLC27A5):c.110T>G:p.Leu37Arg	coding	Benign
19	58516609	C	T	C58516609T	ZBTB45	NM_001316979.2(ZBTB45):c.1065G>A:p.Ala355=	coding	Benign
19	58545438	C	T	C58545438T	TRIM28	NM_005762.3(TRIM28):c.354C>T:p.Pro118=	coding	Benign
19	58549855	C	T	C58549855T	TRIM28	NM_005762.3(TRIM28):c.2101C>T:p.Gln701Ter	coding	Pathogenic
19	58563402	A	C	A58563402C	MZF1	NM_198055.2(MZF1):c.875T>G:p.Ile292Ser	coding	Benign
19	58563488	T	C	T58563488C	MZF1	NM_198055.2(MZF1):c.789A>G:p.Leu263=	coding	Benign
20	289563	T	C	T289563C	C20orf96	NM_153269.3(C20orf96):c.183A>G:p.Gln61=	coding	Benign
20	326560	C	G	C326560G	SOX12	NM_006943.3(SOX12):c.636C>G:p.Ala212=	coding	Benign
20	326652	A	G	A326652G	SOX12	NM_006943.3(SOX12):c.728A>G:p.Glu243Gly	coding	Benign
20	326656	G	A	G326656A	SOX12	NM_006943.3(SOX12):c.732G>A:p.Thr244=	coding	Benign
20	349673	C	T	C349673T	NRSN2	NM_001323682.2(NRSN2):c.30C>T:p.Ser10=	coding	Benign
20	353212	C	T	C353212T	NRSN2	NM_001323682.2(NRSN2):c.192C>T:p.Ile64=	coding	Benign
20	353227	G	A	G353227A	NRSN2	NM_001323682.2(NRSN2):c.207G>A:p.Gly69=	coding	Benign
20	353383	G	A	G353383A	NRSN2	NM_001323682.2(NRSN2):c.363G>A:p.Ala121=	coding	Benign
20	353498	G	C	G353498C	NRSN2	NM_001323682.2(NRSN2):c.478G>C:p.Glu160Gln	coding	Benign
20	388091	C	T	C388091T	TRIB3	NM_021158.4(TRIB3):c.81C>T:p.Thr27=	coding	Benign
20	396363	G	A	G396363A	TRIB3	NM_021158.4(TRIB3):c.750G>A:p.Ala250=	coding	Benign
20	410002	G	A	G410002A	RBCK1	NM_031229.4(RBCK1):c.144G>A:p.Glu48=	coding	Benign
20	410008	C	T	C410008T	RBCK1	NM_031229.4(RBCK1):c.150C>T:p.Ser50=	coding	Benign
20	417634	G	T	G417634T	RBCK1	NM_031229.4(RBCK1):c.261+15G>T	noncoding	Benign
20	417795	C	T	C417795T	RBCK1	NM_031229.4(RBCK1):c.325C>T:p.Arg109Ter	coding	Pathogenic
20	417801	C	T	C417801T	RBCK1	NM_031229.4(RBCK1):c.331C>T:p.Gln111Ter	coding	Pathogenic
20	419439	C	T	C419439T	RBCK1	NM_031229.4(RBCK1):c.553C>T:p.Gln185Ter	coding	Pathogenic
20	419469	G	C	G419469C	RBCK1	NM_031229.4(RBCK1):c.582+1G>C	coding	Pathogenic
20	419702	G	T	G419702T	RBCK1	NM_031229.4(RBCK1):c.727G>T:p.Glu243Ter	coding	Pathogenic
20	419734	G	A	G419734A	RBCK1	NM_031229.4(RBCK1):c.756+3G>A	noncoding	Benign
20	420904	C	T	C420904T	RBCK1	NM_031229.4(RBCK1):c.790C>T:p.Gln264Ter	coding	Pathogenic
20	427337	C	T	C427337T	RBCK1	NM_031229.4(RBCK1):c.1054C>T:p.Arg352Ter	coding	Pathogenic
20	427395	G	T	G427395T	RBCK1	NM_031229.4(RBCK1):c.1112G>T:p.Cys371Phe	coding	Pathogenic
20	427443	A	G	A427443G	RBCK1	NM_031229.4(RBCK1):c.1160A>G:p.Asn387Ser	coding	Pathogenic
20	429053	G	A	G429053A	RBCK1	NM_031229.4(RBCK1):c.1411G>A:p.Glu471Lys	coding	Pathogenic
20	430340	C	T	C430340T	RBCK1	NM_031229.4(RBCK1):c.1453-10C>T	noncoding	Benign
20	438793	C	T	C438793T	TBC1D20	NM_144628.4(TBC1D20):c.1005G>A:p.Gln335=	coding	Benign/Likely_benign
20	439461	G	A	G439461A	TBC1D20	NM_144628.4(TBC1D20):c.769-166C>T	noncoding	Benign
20	440344	C	T	C440344T	TBC1D20	NM_144628.4(TBC1D20):c.672G>A:p.Trp224Ter	coding	Pathogenic
20	441704	T	G	T441704G	TBC1D20	NM_144628.4(TBC1D20):c.525-15A>C	noncoding	Benign
20	444790	C	T	C444790T	TBC1D20	NM_144628.4(TBC1D20):c.337+260G>A	noncoding	Benign
20	444962	C	A	C444962A	TBC1D20	NM_144628.4(TBC1D20):c.337+88G>T	noncoding	Benign
20	445095	G	A	G445095A	TBC1D20	NM_144628.4(TBC1D20):c.292C>T:p.Gln98Ter	coding	Pathogenic
20	447879	C	T	C447879T	TBC1D20	NM_144628.4(TBC1D20):c.256+10G>A	noncoding	Benign/Likely_benign
20	447909	T	C	T447909C	TBC1D20	NM_144628.4(TBC1D20):c.236A>G:p.Asn79Ser	coding	Benign
20	447946	G	A	G447946A	TBC1D20	NM_144628.4(TBC1D20):c.199C>T:p.Arg67Ter	coding	Pathogenic
20	448067	G	A	G448067A	TBC1D20	NM_144628.4(TBC1D20):c.78C>T:p.Asn26=	coding	Benign
20	448123	A	C	A448123C	TBC1D20	NM_144628.4(TBC1D20):c.71-49T>G	noncoding	Benign
20	462455	G	A	G462455A	TBC1D20	NM_144628.4(TBC1D20):c.-50C>T	noncoding	Benign
20	484033	T	C	T484033C	CSNK2A1	NM_177559.3(CSNK2A1):c.1104A>G:p.Ala368=	coding	Benign
20	487542	G	A	G487542A	CSNK2A1	NM_177559.3(CSNK2A1):c.858C>T:p.His286=	coding	Benign
20	488676	A	G	A488676G	CSNK2A1	NM_177559.3(CSNK2A1):c.824+2T>C	noncoding	Pathogenic
20	492349	A	G	A492349G	CSNK2A1	NM_177559.3(CSNK2A1):c.526T>C:p.Trp176Arg	coding	Pathogenic
20	492351	T	C	T492351C	CSNK2A1	NM_177559.3(CSNK2A1):c.524A>G:p.Asp175Gly	coding	Pathogenic
20	495761	A	T	A495761T	CSNK2A1	NM_177559.3(CSNK2A1):c.468T>A:p.Asp156Glu	coding	Pathogenic/Likely_pathogenic
20	495763	C	G	C495763G	CSNK2A1	NM_177559.3(CSNK2A1):c.466G>C:p.Asp156His	coding	Pathogenic
20	497778	T	C	T497778C	CSNK2A1	NM_177559.3(CSNK2A1):c.369A>G:p.Gln123=	coding	Benign
20	505182	T	C	T505182C	CSNK2A1	NM_177559.3(CSNK2A1):c.149A>G:p.Tyr50Cys	coding	Pathogenic
20	505182	T	G	T505182G	CSNK2A1	NM_177559.3(CSNK2A1):c.149A>C:p.Tyr50Ser	coding	Pathogenic
20	505191	C	T	C505191T	CSNK2A1	NM_177559.3(CSNK2A1):c.140G>A:p.Arg47Gln	coding	Pathogenic/Likely_pathogenic
20	505192	G	C	G505192C	CSNK2A1	NM_177559.3(CSNK2A1):c.139C>G:p.Arg47Gly	coding	Pathogenic
20	505199	T	C	T505199C	CSNK2A1	NM_177559.3(CSNK2A1):c.132A>G:p.Lys44=	coding	Benign
20	508551	T	C	T508551C	CSNK2A1	NM_177559.3(CSNK2A1):c.1A>G:p.Met1Val	coding	Pathogenic
20	761140	G	T	G761140T	SLC52A3	NM_033409.4(SLC52A3):c.1296C>A:p.Cys432Ter	coding	Pathogenic
20	761143	C	T	C761143T	SLC52A3	NM_033409.4(SLC52A3):c.1293G>A:p.Trp431Ter	coding	Pathogenic
20	761181	C	T	C761181T	SLC52A3	NM_033409.4(SLC52A3):c.1255G>A:p.Val419Met	coding	Pathogenic
20	761203	A	G	A761203G	SLC52A3	NM_033409.4(SLC52A3):c.1233T>C:p.Ser411=	coding	Benign
20	761240	T	G	T761240G	SLC52A3	NM_033409.4(SLC52A3):c.1198-2A>C	noncoding	Pathogenic
20	763477	T	A	T763477A	SLC52A3	NM_033409.4(SLC52A3):c.1073+21A>T	noncoding	Benign
20	763523	A	T	A763523T	SLC52A3	NM_033409.4(SLC52A3):c.1048T>A:p.Leu350Met	coding	Benign/Likely_benign
20	763524	C	T	C763524T	SLC52A3	NM_033409.4(SLC52A3):c.1047G>A:p.Ser349=	coding	Benign
20	763582	C	A	C763582A	SLC52A3	NM_033409.4(SLC52A3):c.989G>T:p.Gly330Val	coding	Pathogenic
20	763590	C	G	C763590G	SLC52A3	NM_033409.4(SLC52A3):c.981G>C:p.Leu327=	coding	Benign
20	763616	G	A	G763616A	SLC52A3	NM_033409.4(SLC52A3):c.955C>T:p.Pro319Ser	coding	Pathogenic
20	763635	C	T	C763635T	SLC52A3	NM_033409.4(SLC52A3):c.936G>A:p.Ala312=	coding	Benign
20	763664	T	C	T763664C	SLC52A3	NM_033409.4(SLC52A3):c.907A>G:p.Ile303Val	coding	Benign
20	763738	G	A	G763738A	SLC52A3	NM_033409.4(SLC52A3):c.833C>T:p.Thr278Met	coding	Benign
20	763771	G	A	G763771A	SLC52A3	NM_033409.4(SLC52A3):c.800C>T:p.Pro267Leu	coding	Benign
20	763806	G	A	G763806A	SLC52A3	NM_033409.4(SLC52A3):c.765C>T:p.Leu255=	coding	Benign
20	763866	G	A	G763866A	SLC52A3	NM_033409.4(SLC52A3):c.705C>T:p.Leu235=	coding	Benign
20	763866	G	T	G763866T	SLC52A3	NM_033409.4(SLC52A3):c.705C>A:p.Leu235=	coding	Benign
20	763900	A	C	A763900C	SLC52A3	NM_033409.4(SLC52A3):c.671T>G:p.Phe224Cys	coding	Pathogenic
20	763901	A	G	A763901G	SLC52A3	NM_033409.4(SLC52A3):c.670T>C:p.Phe224Leu	coding	Pathogenic
20	763912	G	T	G763912T	SLC52A3	NM_033409.4(SLC52A3):c.659C>A:p.Pro220His	coding	Pathogenic
20	763926	G	A	G763926A	SLC52A3	NM_033409.4(SLC52A3):c.645C>T:p.Pro215=	coding	Benign
20	763932	G	C	G763932C	SLC52A3	NM_033409.4(SLC52A3):c.639C>G:p.Tyr213Ter	coding	Pathogenic
20	763971	G	A	G763971A	SLC52A3	NM_033409.4(SLC52A3):c.600C>T:p.Pro200=	coding	Benign
20	765319	G	A	G765319A	SLC52A3	NM_033409.4(SLC52A3):c.456C>T:p.Pro152=	coding	Benign
20	765401	G	T	G765401T	SLC52A3	NM_033409.4(SLC52A3):c.374C>A:p.Thr125Asn	coding	Pathogenic
20	765412	G	C	G765412C	SLC52A3	NM_033409.4(SLC52A3):c.363C>G:p.Thr121=	coding	Benign/Likely_benign
20	765436	G	A	G765436A	SLC52A3	NM_033409.4(SLC52A3):c.339C>T:p.Phe113=	coding	Benign/Likely_benign
20	765454	G	A	G765454A	SLC52A3	NM_033409.4(SLC52A3):c.321C>T:p.Ala107=	coding	Benign
20	765535	G	A	G765535A	SLC52A3	NM_033409.4(SLC52A3):c.240C>T:p.Gly80=	coding	Benign
20	765551	A	G	A765551G	SLC52A3	NM_033409.4(SLC52A3):c.224T>C:p.Ile75Thr	coding	Pathogenic
20	765553	G	C	G765553C	SLC52A3	NM_033409.4(SLC52A3):c.222C>G:p.Ile74Met	coding	Benign/Likely_benign
20	765564	C	A	C765564A	SLC52A3	NM_033409.4(SLC52A3):c.211G>T:p.Glu71Ter	coding	Pathogenic
20	765564	C	T	C765564T	SLC52A3	NM_033409.4(SLC52A3):c.211G>A:p.Glu71Lys	coding	Pathogenic
20	765602	A	T	A765602T	SLC52A3	NM_033409.4(SLC52A3):c.173T>A:p.Val58Asp	coding	Pathogenic
20	765615	C	T	C765615T	SLC52A3	NM_033409.4(SLC52A3):c.160G>A:p.Gly54Arg	coding	Pathogenic
20	765693	G	T	G765693T	SLC52A3	NM_033409.4(SLC52A3):c.82C>A:p.Pro28Thr	coding	Pathogenic
20	765712	A	G	A765712G	SLC52A3	NM_033409.4(SLC52A3):c.63T>C:p.Asn21=	coding	Benign/Likely_benign
20	765726	A	G	A765726G	SLC52A3	NM_033409.4(SLC52A3):c.49T>C:p.Trp17Arg	coding	Pathogenic
20	765766	G	A	G765766A	SLC52A3	NM_033409.4(SLC52A3):c.9C>T:p.Phe3=	coding	Benign/Likely_benign
20	845201	G	C	G845201C	FAM110A	NM_001042353.3(FAM110A):c.397G>C:p.Ala133Pro	coding	Benign
20	874330	T	G	T874330G	ANGPT4	NM_015985.4(ANGPT4):c.1305A>C:p.Ser435=	coding	Benign
20	888390	A	C	A888390C	ANGPT4	NM_015985.4(ANGPT4):c.515T>G:p.Leu172Arg	coding	Benign
20	890327	C	T	C890327T	ANGPT4	NM_015985.4(ANGPT4):c.351G>A:p.Glu117=	coding	Benign
20	967230	C	T	C967230T	RSPO4	NM_001029871.4(RSPO4):c.353G>A:p.Cys118Tyr	coding	Pathogenic
20	967264	A	G	A967264G	RSPO4	NM_001029871.4(RSPO4):c.319T>C:p.Cys107Arg	coding	Pathogenic
20	967266	C	T	C967266T	RSPO4	NM_001029871.4(RSPO4):c.317G>A:p.Arg106Gln	coding	Benign
20	967282	G	A	G967282A	RSPO4	NM_001029871.4(RSPO4):c.301C>T:p.Gln101Ter	coding	Pathogenic
20	968000	C	T	C968000T	RSPO4	NM_001029871.4(RSPO4):c.218G>A:p.Cys73Tyr	coding	Pathogenic
20	968019	C	G	C968019G	RSPO4	NM_001029871.4(RSPO4):c.199G>C:p.Gly67Arg	coding	Pathogenic
20	968024	T	C	T968024C	RSPO4	NM_001029871.4(RSPO4):c.194A>G:p.Gln65Arg	coding	Pathogenic
20	968028	G	A	G968028A	RSPO4	NM_001029871.4(RSPO4):c.190C>T:p.Arg64Cys	coding	Pathogenic
20	1002085	C	T	C1002085T	RSPO4	NM_001029871.4(RSPO4):c.79+1G>A	noncoding	Pathogenic
20	1125500	G	A	G1125500A	PSMF1	NM_006814.5(PSMF1):c.132G>A:p.Pro44=	coding	Benign
20	1163153	T	C	T1163153C	PSMF1	NM_006814.5(PSMF1):c.575T>C:p.Val192Ala	coding	Benign
20	1254396	G	A	G1254396A	RAD21L1	NM_001136566.2(RAD21L1):c.1610G>A:p.Ser537Asn	coding	Benign
20	1464352	T	C	T1464352C	NSFL1C	NM_001206736.1(NSFL1C):c.180A>G:p.Ser60=	coding	Benign
20	1921559	G	A	G1921559A	SIRPA	NM_001040023.2(SIRPA):c.601G>A:p.Val201Ile	coding	Benign
20	1921595	G	A	G1921595A	SIRPA	NM_001040023.2(SIRPA):c.637G>A:p.Ala213Thr	coding	Benign
20	1921718	A	G	A1921718G	SIRPA	NM_001040023.2(SIRPA):c.754+6A>G	noncoding	Benign
20	1922629	C	T	C1922629T	SIRPA	NM_001040023.2(SIRPA):c.1071C>T:p.Gly357=	coding	Benign
20	1937433	G	A	G1937433A	SIRPA	NM_001040023.2(SIRPA):c.1380G>A:p.Pro460=	coding	Benign
20	1978866	G	C	G1978866C	PDYN	NM_024411.5(PDYN):c.*1457C>G	noncoding	Benign
20	1978880	C	T	C1978880T	PDYN	NM_024411.5(PDYN):c.*1443G>A	noncoding	Benign
20	1978927	G	A	G1978927A	PDYN	NM_024411.5(PDYN):c.*1396C>T	noncoding	Benign
20	1978929	G	T	G1978929T	PDYN	NM_024411.5(PDYN):c.*1394C>A	noncoding	Benign
20	1979293	G	A	G1979293A	PDYN	NM_024411.5(PDYN):c.*1030C>T	noncoding	Benign
20	1979294	T	C	T1979294C	PDYN	NM_024411.5(PDYN):c.*1029A>G	noncoding	Benign
20	1979487	G	C	G1979487C	PDYN	NM_024411.5(PDYN):c.*836C>G	noncoding	Benign
20	1979552	A	G	A1979552G	PDYN	NM_024411.5(PDYN):c.*771T>C	noncoding	Benign
20	1979580	A	G	A1979580G	PDYN	NM_024411.5(PDYN):c.*743T>C	noncoding	Benign
20	1979667	A	G	A1979667G	PDYN	NM_024411.5(PDYN):c.*656T>C	noncoding	Benign
20	1979767	G	A	G1979767A	PDYN	NM_024411.5(PDYN):c.*556C>T	noncoding	Benign
20	1979954	T	C	T1979954C	PDYN	NM_024411.5(PDYN):c.*369A>G	noncoding	Benign
20	1979967	A	G	A1979967G	PDYN	NM_024411.5(PDYN):c.*356T>C	noncoding	Benign
20	1980098	A	G	A1980098G	PDYN	NM_024411.5(PDYN):c.*225T>C	noncoding	Benign
20	1980185	T	C	T1980185C	PDYN	NM_024411.5(PDYN):c.*138A>G	noncoding	Benign
20	1980245	T	C	T1980245C	PDYN	NM_024411.5(PDYN):c.*78A>G	noncoding	Benign
20	1980372	C	T	C1980372T	PDYN	NM_024411.5(PDYN):c.716G>A:p.Arg239Gln	coding	Benign/Likely_benign
20	1980376	T	C	T1980376C	PDYN	NM_024411.5(PDYN):c.712A>G:p.Thr238Ala	coding	Benign
20	1980445	G	A	G1980445A	PDYN	NM_024411.5(PDYN):c.643C>T:p.Arg215Cys	coding	Pathogenic
20	1980454	G	A	G1980454A	PDYN	NM_024411.5(PDYN):c.634C>T:p.Arg212Trp	coding	Pathogenic
20	1980488	A	G	A1980488G	PDYN	NM_024411.5(PDYN):c.600T>C:p.His200=	coding	Benign
20	1980513	T	A	T1980513A	PDYN	NM_024411.5(PDYN):c.575A>T:p.Glu192Val	coding	Benign/Likely_benign
20	1980652	T	G	T1980652G	PDYN	NM_024411.5(PDYN):c.436A>C:p.Met146Leu	coding	Benign/Likely_benign
20	1980674	C	A	C1980674A	PDYN	NM_024411.5(PDYN):c.414G>T:p.Arg138Ser	coding	Pathogenic/Likely_pathogenic
20	1980820	C	T	C1980820T	PDYN	NM_024411.5(PDYN):c.268G>A:p.Gly90Arg	coding	Benign
20	1982964	T	C	T1982964C	PDYN	NM_024411.5(PDYN):c.121A>G:p.Asn41Asp	coding	Benign/Likely_benign
20	1982979	C	A	C1982979A	PDYN	NM_024411.5(PDYN):c.106G>T:p.Gly36Cys	coding	Benign/Likely_benign
20	1983013	C	T	C1983013T	PDYN	NM_024411.5(PDYN):c.72G>A:p.Ser24=	coding	Benign
20	1994212	T	C	T1994212C	PDYN	NM_001190899.2(PDYN):c.-321A>G	noncoding	Benign
20	2317415	C	A	C2317415A	TGM3	NM_003245.4(TGM3):c.913C>A:p.Arg305=	coding	Benign
20	2325900	C	G	C2325900G	TGM3	NM_003245.4(TGM3):c.1035C>G:p.Pro345=	coding	Benign
20	2332019	C	T	C2332019T	TGM3	NM_003245.4(TGM3):c.1351C>T:p.Gln451Ter	coding	Pathogenic
20	2332071	C	T	C2332071T	TGM3	NM_003245.4(TGM3):c.1403C>T:p.Ala468Val	coding	Benign
20	2332120	C	T	C2332120T	TGM3	NM_003245.4(TGM3):c.1452C>T:p.Ile484=	coding	Benign
20	2332249	C	T	C2332249T	TGM3	NM_003245.4(TGM3):c.1581C>T:p.Asn527=	coding	Benign
20	2332315	C	T	C2332315T	TGM3	NM_003245.4(TGM3):c.1642+5C>T	noncoding	Benign
20	2339849	C	A	C2339849A	TGM3	NM_003245.4(TGM3):c.1801-5C>A	noncoding	Benign
20	2340448	G	A	G2340448A	TGM3	NM_003245.4(TGM3):c.1949G>A:p.Gly650Glu	coding	Benign
20	2380933	T	C	T2380933C	TGM6	NM_198994.3(TGM6):c.-36T>C	noncoding	Benign
20	2394456	C	G	C2394456G	TGM6	NM_198994.3(TGM6):c.12C>G:p.Ile4Met	coding	Benign
20	2394475	T	G	T2394475G	TGM6	NM_198994.3(TGM6):c.31T>G:p.Trp11Gly	coding	Benign
20	2394486	G	A	G2394486A	TGM6	NM_198994.3(TGM6):c.42G>A:p.Ser14=	coding	Benign
20	2394555	G	A	G2394555A	TGM6	NM_198994.3(TGM6):c.111G>A:p.Ser37=	coding	Benign
20	2394615	G	A	G2394615A	TGM6	NM_198994.3(TGM6):c.171G>A:p.Thr57=	coding	Benign
20	2394616	A	G	A2394616G	TGM6	NM_198994.3(TGM6):c.172A>G:p.Met58Val	coding	Benign
20	2394633	G	A	G2394633A	TGM6	NM_198994.3(TGM6):c.181+8G>A	noncoding	Benign
20	2395257	G	C	G2395257C	TGM6	NM_198994.3(TGM6):c.245G>C:p.Gly82Ala	coding	Benign/Likely_benign
20	2395316	G	A	G2395316A	TGM6	NM_198994.3(TGM6):c.304G>A:p.Ala102Thr	coding	Benign
20	2395343	C	T	C2395343T	TGM6	NM_198994.3(TGM6):c.331C>T:p.Arg111Cys	coding	Pathogenic
20	2395392	G	A	G2395392A	TGM6	NM_198994.3(TGM6):c.380G>A:p.Arg127Gln	coding	Benign
20	2395434	C	A	C2395434A	TGM6	NM_198994.3(TGM6):c.422C>A:p.Ala141Glu	coding	Benign
20	2396558	C	T	C2396558T	TGM6	NM_198994.3(TGM6):c.477C>T:p.Ser159=	coding	Benign
20	2396562	A	G	A2396562G	TGM6	NM_198994.3(TGM6):c.481A>G:p.Ser161Gly	coding	Benign
20	2396583	G	A	G2396583A	TGM6	NM_198994.3(TGM6):c.502G>A:p.Val168Met	coding	Benign/Likely_benign
20	2396618	C	T	C2396618T	TGM6	NM_198994.3(TGM6):c.537C>T:p.Tyr179=	coding	Benign
20	2397929	C	T	C2397929T	TGM6	NM_198994.3(TGM6):c.555C>T:p.Asp185=	coding	Benign
20	2397992	C	T	C2397992T	TGM6	NM_198994.3(TGM6):c.618C>T:p.Thr206=	coding	Benign
20	2399639	T	C	T2399639C	TGM6	NM_198994.3(TGM6):c.751T>C:p.Trp251Arg	coding	Benign
20	2399677	G	A	G2399677A	TGM6	NM_198994.3(TGM6):c.789G>A:p.Lys263=	coding	Benign
20	2399750	G	A	G2399750A	TGM6	NM_198994.3(TGM6):c.850+12G>A	noncoding	Benign
20	2400338	G	A	G2400338A	TGM6	NM_198994.3(TGM6):c.883G>A:p.Val295Met	coding	Benign
20	2400395	G	A	G2400395A	TGM6	NM_198994.3(TGM6):c.940G>A:p.Val314Met	coding	Benign/Likely_benign
20	2400411	G	A	G2400411A	TGM6	NM_198994.3(TGM6):c.956G>A:p.Arg319Gln	coding	Benign/Likely_benign
20	2400435	A	G	A2400435G	TGM6	NM_198994.3(TGM6):c.980A>G:p.Asp327Gly	coding	Pathogenic
20	2400455	C	T	C2400455T	TGM6	NM_198994.3(TGM6):c.989+11C>T	noncoding	Benign
20	2403399	A	G	A2403399G	TGM6	NM_198994.3(TGM6):c.992A>G:p.Asn331Ser	coding	Benign
20	2403418	G	A	G2403418A	TGM6	NM_198994.3(TGM6):c.1011G>A:p.Glu337=	coding	Benign/Likely_benign
20	2403447	C	T	C2403447T	TGM6	NM_198994.3(TGM6):c.1040C>T:p.Pro347Leu	coding	Benign
20	2403505	G	A	G2403505A	TGM6	NM_198994.3(TGM6):c.1093+5G>A	noncoding	Benign
20	2403575	G	T	G2403575T	TGM6	NM_198994.3(TGM6):c.1094-6G>T	noncoding	Benign
20	2403590	G	A	G2403590A	TGM6	NM_198994.3(TGM6):c.1103G>A:p.Arg368Gln	coding	Benign
20	2403595	G	A	G2403595A	TGM6	NM_198994.3(TGM6):c.1108G>A:p.Gly370Ser	coding	Benign
20	2403613	G	A	G2403613A	TGM6	NM_198994.3(TGM6):c.1126G>A:p.Ala376Thr	coding	Benign
20	2403658	G	A	G2403658A	TGM6	NM_198994.3(TGM6):c.1171G>A:p.Val391Met	coding	Benign
20	2403685	A	G	A2403685G	TGM6	NM_198994.3(TGM6):c.1198A>G:p.Ile400Val	coding	Benign
20	2403703	G	A	G2403703A	TGM6	NM_198994.3(TGM6):c.1216G>A:p.Glu406Lys	coding	Benign/Likely_benign
20	2403722	G	A	G2403722A	TGM6	NM_198994.3(TGM6):c.1235G>A:p.Arg412His	coding	Benign
20	2403788	G	A	G2403788A	TGM6	NM_198994.3(TGM6):c.1301G>A:p.Arg434His	coding	Benign
20	2403789	C	T	C2403789T	TGM6	NM_198994.3(TGM6):c.1302C>T:p.Arg434=	coding	Benign
20	2417237	C	T	C2417237T	TGM6	NM_198994.3(TGM6):c.1342C>T:p.Arg448Trp	coding	Benign
20	2417282	G	A	G2417282A	TGM6	NM_198994.3(TGM6):c.1387G>A:p.Gly463Ser	coding	Benign
20	2417347	C	T	C2417347T	TGM6	NM_198994.3(TGM6):c.1452C>T:p.Asp484=	coding	Benign/Likely_benign
20	2417371	G	A	G2417371A	TGM6	NM_198994.3(TGM6):c.1476G>A:p.Lys492=	coding	Benign
20	2417418	G	A	G2417418A	TGM6	NM_198994.3(TGM6):c.1523G>A:p.Gly508Asp	coding	Benign
20	2417423	G	C	G2417423C	TGM6	NM_198994.3(TGM6):c.1528G>C:p.Asp510His	coding	Pathogenic
20	2417451	A	C	A2417451C	TGM6	NM_198994.3(TGM6):c.1556A>C:p.Asn519Thr	coding	Benign
20	2417475	T	A	T2417475A	TGM6	NM_198994.3(TGM6):c.1580T>A:p.Val527Glu	coding	Benign
20	2417491	C	T	C2417491T	TGM6	NM_198994.3(TGM6):c.1596C>T:p.Ser532=	coding	Benign
20	2417548	C	T	C2417548T	TGM6	NM_198994.3(TGM6):c.1653C>T:p.His551=	coding	Benign/Likely_benign
20	2417551	C	T	C2417551T	TGM6	NM_198994.3(TGM6):c.1656C>T:p.Ala552=	coding	Benign
20	2417552	G	A	G2417552A	TGM6	NM_198994.3(TGM6):c.1657G>A:p.Val553Met	coding	Benign
20	2430980	G	A	G2430980A	TGM6	NM_198994.3(TGM6):c.1920G>A:p.Ala640=	coding	Benign
20	2432479	C	T	C2432479T	TGM6	NM_198994.3(TGM6):c.1968-11C>T	noncoding	Benign
20	2432480	C	T	C2432480T	TGM6	NM_198994.3(TGM6):c.1968-10C>T	noncoding	Benign
20	2432517	G	C	G2432517C	TGM6	NM_198994.3(TGM6):c.1995G>C:p.Arg665Ser	coding	Benign
20	2432574	G	A	G2432574A	TGM6	NM_198994.3(TGM6):c.2052G>A:p.Val684=	coding	Benign
20	2432674	T	C	T2432674C	TGM6	NM_198994.3(TGM6):c.*31T>C	noncoding	Benign
20	2432730	C	A	C2432730A	TGM6	NM_198994.3(TGM6):c.*87C>A	noncoding	Benign
20	2462709	C	T	C2462709T	SNRPB	NM_003091.4(SNRPB):c.612G>A:p.Gly204=	coding	Benign
20	2462717	G	A	G2462717A	SNRPB	NM_003091.4(SNRPB):c.604C>T:p.Pro202Ser	coding	Benign
20	2465723	T	A	T2465723A	SNRPB	NM_003091.4(SNRPB):c.252A>T:p.Gly84=	coding	Benign
20	2467201	G	T	G2467201T	SNRPB	NM_003091.4(SNRPB):c.155+406C>A	noncoding	Pathogenic
20	2467305	C	A	C2467305A	SNRPB	NM_003091.4(SNRPB):c.155+302G>T	noncoding	Pathogenic
20	2467305	C	G	C2467305G	SNRPB	NM_003091.4(SNRPB):c.155+302G>C	noncoding	Pathogenic
20	2467306	C	G	C2467306G	SNRPB	NM_003091.4(SNRPB):c.155+301G>C	noncoding	Pathogenic/Likely_pathogenic
20	2470762	G	T	G2470762T	SNRPB	NM_003091.4(SNRPB):c.-72C>A	noncoding	Pathogenic
20	2658234	G	A	G2658234A	NOP56	NM_006392.4(NOP56):c.1725G>A:p.Ala575=	coding	Benign
20	2659549	C	T	C2659549T	IDH3B	NM_006899.5(IDH3B):c.1047G>A:p.Val349=	coding	Benign/Likely_benign
20	2660088	C	T	C2660088T	IDH3B	NM_006899.5(IDH3B):c.857G>A:p.Gly286Glu	coding	Pathogenic
20	2660486	C	T	C2660486T	IDH3B	NM_006899.5(IDH3B):c.636G>A:p.Lys212=	coding	Benign
20	2660912	A	G	A2660912G	IDH3B	NM_006899.5(IDH3B):c.395T>C:p.Leu132Pro	coding	Pathogenic
20	2663761	C	G	C2663761G	IDH3B	NM_006899.5(IDH3B):c.118-3G>C	noncoding	Benign
20	2705712	C	T	C2705712T	EBF4	NM_001110514.1(EBF4):c.261C>T:p.Ile87=	coding	Benign
20	2709577	G	T	G2709577T	EBF4	NM_001110514.1(EBF4):c.480G>T:p.Arg160=	coding	Benign
20	2794264	G	A	G2794264A	CPXM1	NM_019609.5(CPXM1):c.2131C>T:p.Leu711=	coding	Benign
20	2797045	A	G	A2797045G	CPXM1	NM_019609.5(CPXM1):c.882T>C:p.Pro294=	coding	Benign
20	2863068	T	G	T2863068G	VPS16	NM_022575.4(VPS16):c.1335T>G:p.Tyr445Ter	coding	Pathogenic
20	2864631	C	T	C2864631T	PTPRA;VPS16	NM_022575.4(VPS16):c.1903C>T:p.Arg635Ter	coding	Pathogenic
20	2986784	G	A	G2986784A	PTPRA	NM_002836.3(PTPRA):c.462G>A:p.Ala154=	coding	Benign
20	3044684	G	A	G3044684A	GNRH2	NM_001310220.2(GNRH2):c.160G>A:p.Ala54Thr	coding	Benign
20	3044743	C	T	C3044743T	GNRH2	NM_178331.2(GNRH2):c.198C>T:p.Ala66=	coding	Benign
20	3072358	T	C	T3072358C	OXT	NM_000915.4(OXT):c.323-5T>C	noncoding	Benign
20	3082779	A	C	A3082779C	AVP	NM_000490.5(AVP):c.346T>G:p.Cys116Gly	coding	Pathogenic
20	3082788	C	A	C3082788A	AVP	NM_000490.5(AVP):c.337G>T:p.Glu113Ter	coding	Pathogenic
20	3082975	A	C	A3082975C	AVP	NM_000490.5(AVP):c.322+2T>G	noncoding	Pathogenic
20	3082980	C	T	C3082980T	AVP	NM_000490.5(AVP):c.319G>A:p.Asp107Asn	coding	Benign
20	3083005	G	T	G3083005T	AVP	NM_000490.5(AVP):c.294C>A:p.Cys98Ter	coding	Pathogenic
20	3083012	C	A	C3083012A	AVP	NM_000490.5(AVP):c.287G>T:p.Gly96Val	coding	Pathogenic
20	3083022	C	A	C3083022A	AVP	NM_000490.5(AVP):c.277G>T:p.Gly93Trp	coding	Pathogenic
20	3083024	C	T	C3083024T	AVP	NM_000490.5(AVP):c.275G>A:p.Cys92Tyr	coding	Pathogenic
20	3083037	C	T	C3083037T	AVP	NM_000490.5(AVP):c.262G>A:p.Gly88Ser	coding	Pathogenic
20	3083039	G	A	G3083039A	AVP	NM_000490.5(AVP):c.260C>T:p.Ser87Phe	coding	Pathogenic
20	3083054	G	A	G3083054A	AVP	NM_000490.5(AVP):c.245C>T:p.Pro82Leu	coding	Benign
20	3083069	T	A	T3083069A	AVP	NM_000490.5(AVP):c.230A>T:p.Glu77Val	coding	Benign
20	3083099	A	G	A3083099G	AVP	NM_000490.5(AVP):c.200T>C:p.Val67Ala	coding	Pathogenic
20	3083138	C	A	C3083138A	AVP	NM_000490.5(AVP):c.161G>T:p.Gly54Val	coding	Pathogenic
20	3083139	C	G	C3083139G	AVP	NM_000490.5(AVP):c.160G>C:p.Gly54Arg	coding	Pathogenic
20	3083149	G	T	G3083149T	AVP	NM_000490.5(AVP):c.150C>A:p.Gly50=	coding	Benign
20	3083156	C	A	C3083156A	AVP	NM_000490.5(AVP):c.143G>T:p.Gly48Val	coding	Pathogenic
20	3084614	A	G	A3084614G	AVP	NM_000490.5(AVP):c.61T>C:p.Tyr21His	coding	Pathogenic
20	3084619	G	A	G3084619A	AVP	NM_000490.5(AVP):c.56C>T:p.Ala19Val	coding	Pathogenic
20	3084620	C	T	C3084620T	AVP	NM_000490.5(AVP):c.55G>A:p.Ala19Thr	coding	Pathogenic
20	3084655	G	A	G3084655A	AVP	NM_000490.5(AVP):c.20C>T:p.Pro7Leu	coding	Pathogenic
20	3195330	G	A	G3195330A	DDRGK1	NM_023935.3(DDRGK1):c.534C>T:p.Arg178=	coding	Benign
20	3200341	C	T	C3200341T	DDRGK1	NM_023935.3(DDRGK1):c.408+1G>A	noncoding	Pathogenic
20	3203207	T	C	T3203207C	DDRGK1	NM_023935.3(DDRGK1):c.295+6A>G	noncoding	Benign
20	3203235	G	A	G3203235A	DDRGK1	NM_023935.3(DDRGK1):c.273C>T:p.Asn91=	coding	Benign
20	3213228	T	C	T3213228C	ITPA	NM_033453.4(ITPA):c.124+2T>C	noncoding	Pathogenic
20	3214028	A	G	A3214028G	ITPA	NM_033453.4(ITPA):c.233A>G:p.Asn78Ser	coding	Benign/Likely_benign
20	3215295	A	G	A3215295G	ITPA	NM_033453.4(ITPA):c.278A>G:p.Glu93Gly	coding	Benign/Likely_benign
20	3215308	T	G	T3215308G	ITPA	NM_033453.4(ITPA):c.291T>G:p.Pro97=	coding	Benign
20	3218525	C	T	C3218525T	ITPA	NM_033453.4(ITPA):c.304C>T:p.Gln102Ter	coding	Pathogenic
20	3218536	C	T	C3218536T	ITPA	NM_033453.4(ITPA):c.315C>T:p.Ala105=	coding	Benign
20	3221881	G	A	G3221881A	ITPA	NM_033453.4(ITPA):c.452G>A:p.Trp151Ter	coding	Pathogenic
20	3221918	G	A	G3221918A	ITPA	NM_033453.4(ITPA):c.488+1G>A	coding	Pathogenic
20	3223416	G	A	G3223416A	ITPA	NM_033453.4(ITPA):c.539G>A:p.Arg180Gln	coding	Benign
20	3223417	G	A	G3223417A	ITPA	NM_033453.4(ITPA):c.540G>A:p.Arg180=	coding	Benign
20	3227753	G	A	G3227753A	SLC4A11	NM_001174089.2(SLC4A11):c.*34C>T	noncoding	Benign
20	3227805	G	A	G3227805A	SLC4A11	NM_001174089.2(SLC4A11):c.2610C>T:p.Asp870=	coding	Benign
20	3228259	C	T	C3228259T	SLC4A11	NM_001174089.2(SLC4A11):c.2558G>A:p.Arg853His	coding	Pathogenic
20	3228260	G	A	G3228260A	SLC4A11	NM_001174089.2(SLC4A11):c.2557C>T:p.Arg853Cys	coding	Pathogenic
20	3228299	T	C	T3228299C	SLC4A11	NM_001174089.2(SLC4A11):c.2518A>G:p.Met840Val	coding	Pathogenic
20	3228337	A	G	A3228337G	SLC4A11	NM_001174089.2(SLC4A11):c.2480T>C:p.Leu827Pro	coding	Pathogenic/Likely_pathogenic
20	3228366	C	T	C3228366T	SLC4A11	NM_001174089.2(SLC4A11):c.2451G>A:p.Thr817=	coding	Benign/Likely_benign
20	3228437	G	A	G3228437A	SLC4A11	NM_001174089.2(SLC4A11):c.2389-9C>T	noncoding	Benign
20	3228608	G	A	G3228608A	SLC4A11	NM_001174089.2(SLC4A11):c.2292C>T:p.Pro764=	coding	Benign
20	3228684	C	T	C3228684T	SLC4A11	NM_001174089.2(SLC4A11):c.2216G>A:p.Arg739Gln	coding	Pathogenic
20	3228685	G	A	G3228685A	SLC4A11	NM_001174089.2(SLC4A11):c.2215C>T:p.Arg739Trp	coding	Pathogenic
20	3228687	G	A	G3228687A	SLC4A11	NM_001174089.2(SLC4A11):c.2213C>T:p.Thr738Met	coding	Pathogenic
20	3228711	C	T	C3228711T	SLC4A11	NM_001174089.2(SLC4A11):c.2193-4G>A	noncoding	Benign
20	3228725	G	A	G3228725A	SLC4A11	NM_001174089.2(SLC4A11):c.2193-18C>T	noncoding	Benign
20	3228872	C	A	C3228872A	SLC4A11	NM_001174089.2(SLC4A11):c.2158G>T:p.Glu720Ter	coding	Pathogenic
20	3228890	G	A	G3228890A	SLC4A11	NM_001174089.2(SLC4A11):c.2140C>T:p.Arg714Ter	coding	Pathogenic
20	3228952	C	T	C3228952T	SLC4A11	NM_001174089.2(SLC4A11):c.2078G>A:p.Gly693Glu	coding	Pathogenic
20	3229410	G	A	G3229410A	SLC4A11	NM_001174089.2(SLC4A11):c.1785C>T:p.Cys595=	coding	Benign
20	3229430	G	A	G3229430A	SLC4A11	NM_001174089.2(SLC4A11):c.1765C>T:p.Arg589Ter	coding	Pathogenic
20	3229537	G	A	G3229537A	SLC4A11	NM_001174089.2(SLC4A11):c.1729C>T:p.Gln577Ter	coding	Pathogenic
20	3229655	G	A	G3229655A	SLC4A11	NM_001174089.2(SLC4A11):c.1611C>T:p.Asn537=	coding	Benign
20	3230258	G	A	G3230258A	SLC4A11	NM_001174089.2(SLC4A11):c.1418C>T:p.Ser473Leu	coding	Pathogenic
20	3230515	C	T	C3230515T	SLC4A11	NM_001174089.2(SLC4A11):c.1415G>A:p.Arg472Lys	coding	Pathogenic
20	3230587	C	T	C3230587T	SLC4A11	NM_001174089.2(SLC4A11):c.1343G>A:p.Gly448Asp	coding	Pathogenic
20	3230589	C	T	C3230589T	SLC4A11	NM_001174089.2(SLC4A11):c.1341G>A:p.Thr447=	coding	Benign
20	3230658	G	A	G3230658A	SLC4A11	NM_001174089.2(SLC4A11):c.1283-11C>T	noncoding	Benign
20	3230954	C	T	C3230954T	SLC4A11	NM_001174089.2(SLC4A11):c.1147G>A:p.Glu383Lys	coding	Pathogenic
20	3230991	G	T	G3230991T	SLC4A11	NM_001174089.2(SLC4A11):c.1110C>A:p.Cys370Ter	coding	Pathogenic
20	3231073	T	G	T3231073G	SLC4A11	NM_001174089.2(SLC4A11):c.1043-15A>C	noncoding	Benign
20	3231514	G	A	G3231514A	SLC4A11	NM_001174089.2(SLC4A11):c.764C>T:p.Thr255Met	coding	Pathogenic
20	3233618	G	A	G3233618A	SLC4A11	NM_001174089.2(SLC4A11):c.625C>T:p.Gln209Ter	coding	Pathogenic
20	3233935	C	T	C3233935T	SLC4A11	NM_001174089.2(SLC4A11):c.591G>A:p.Ser197=	coding	Benign
20	3233937	A	G	A3233937G	SLC4A11	NM_001174089.2(SLC4A11):c.589T>C:p.Ser197Pro	coding	Pathogenic
20	3234173	T	G	T3234173G	SLC4A11	NM_001174089.2(SLC4A11):c.433A>C:p.Arg145=	coding	Benign
20	3234205	T	C	T3234205C	SLC4A11	NM_001174089.2(SLC4A11):c.401A>G:p.Asn134Ser	coding	Benign
20	3234249	C	T	C3234249T	SLC4A11	NM_001174089.2(SLC4A11):c.357G>A:p.Ala119=	coding	Benign
20	3234902	C	A	C3234902A	SLC4A11	NM_001174089.2(SLC4A11):c.89-8G>T	noncoding	Benign
20	3237570	G	T	G3237570T	SLC4A11	NM_001174089.2(SLC4A11):c.62C>A:p.Ser21Ter	coding	Pathogenic
20	3237596	G	C	G3237596C	SLC4A11	NM_001174089.2(SLC4A11):c.44-8C>G	coding	Benign
20	3237709	C	G	C3237709G	SLC4A11	NM_001174089.2(SLC4A11):c.44-121G>C	coding	Benign
20	3560815	A	T	A3560815T	ATRN	NM_139321.3(ATRN):c.1357A>T:p.Thr453Ser	coding	Benign
20	3576878	A	G	A3576878G	ATRN	NM_139321.3(ATRN):c.2234A>G:p.Glu745Gly	coding	Benign
20	3582133	A	C	A3582133C	ATRN	NM_139321.3(ATRN):c.2545-2A>C	noncoding	Benign
20	3584729	T	C	T3584729C	ATRN	NM_139321.3(ATRN):c.3033T>C:p.Thr1011=	coding	Benign
20	3604137	G	A	G3604137A	ATRN	NM_139321.3(ATRN):c.3676G>A:p.Val1226Ile	coding	Benign
20	3669598	G	A	G3669598A	ADAM33	NM_025220.5(ADAM33):c.2280C>T:p.Gly760=	coding	Benign
20	3671144	G	T	G3671144T	ADAM33	NM_025220.5(ADAM33):c.2102C>A:p.Thr701Asn	coding	Benign
20	3671718	T	C	T3671718C	ADAM33	NM_025220.5(ADAM33):c.1768A>G:p.Met590Val	coding	Benign
20	3672188	A	G	A3672188G	ADAM33	NM_025220.5(ADAM33):c.1543T>C:p.Trp515Arg	coding	Benign
20	3672234	A	T	A3672234T	ADAM33	NM_025220.5(ADAM33):c.1497T>A:p.Val499=	coding	Benign
20	3672576	C	T	C3672576T	ADAM33	NM_025220.5(ADAM33):c.1362G>A:p.Gly454=	coding	Benign
20	3675034	T	C	T3675034C	ADAM33	NM_025220.5(ADAM33):c.326A>G:p.Asn109Ser	coding	Benign
20	3689999	C	T	C3689999T	SIGLEC1	NM_023068.4(SIGLEC1):c.4857G>A:p.Leu1619=	coding	Benign
20	3694228	G	A	G3694228A	SIGLEC1	NM_023068.4(SIGLEC1):c.3249C>T:p.Asp1083=	coding	Benign
20	3694489	G	A	G3694489A	SIGLEC1	NM_023068.4(SIGLEC1):c.2988C>T:p.Gly996=	coding	Benign
20	3698102	C	A	C3698102A	SIGLEC1	NM_023068.4(SIGLEC1):c.1818G>T:p.Arg606Ser	coding	Benign
20	3699296	C	T	C3699296T	SIGLEC1	NM_023068.4(SIGLEC1):c.1692G>A:p.Ala564=	coding	Benign
20	3701645	T	C	T3701645C	SIGLEC1	NM_023068.4(SIGLEC1):c.1229-4A>G	noncoding	Benign
20	3705811	C	A	C3705811A	SIGLEC1	NM_023068.4(SIGLEC1):c.639G>T:p.Arg213=	coding	Benign
20	3740838	G	C	G3740838C	HSPA12B	NM_052970.5(HSPA12B):c.67G>C:p.Val23Leu	coding	Benign
20	3857715	C	T	C3857715T	MAVS	NM_020746.5(MAVS):c.198C>T:p.Pro66=	coding	Benign
20	3857812	G	A	G3857812A	MAVS	NM_020746.5(MAVS):c.292+3G>A	noncoding	Benign
20	3857815	C	T	C3857815T	MAVS	NM_020746.5(MAVS):c.292+6C>T	noncoding	Benign
20	3865761	G	A	G3865761A	MAVS	NM_020746.5(MAVS):c.1237G>A:p.Gly413Ser	coding	Benign
20	3866015	C	T	C3866015T	MAVS	NM_020746.5(MAVS):c.1491C>T:p.Ala497=	coding	Benign
20	3889090	G	A	G3889090A	PANK2	NM_153638.3(PANK2):c.-11G>A	noncoding	Benign/Likely_benign
20	3889381	G	C	G3889381C	PANK2	NM_153638.3(PANK2):c.281G>C:p.Arg94Pro	coding	Benign
20	3889410	G	T	G3889410T	PANK2	NM_024960.6(PANK2):c.-246+506G>T	coding	Pathogenic
20	3889432	T	A	T3889432A	PANK2	NM_153638.3(PANK2):c.332T>A:p.Leu111Gln	coding	Benign
20	3889477	G	C	G3889477C	PANK2	NM_153638.3(PANK2):c.377G>C:p.Gly126Ala	coding	Benign
20	3889480	G	T	G3889480T	PANK2	NM_153638.3(PANK2):c.380G>T:p.Gly127Val	coding	Benign/Likely_benign
20	3889545	G	T	G3889545T	PANK2	NM_153638.3(PANK2):c.445G>T:p.Glu149Ter	coding	Pathogenic
20	3889619	C	G	C3889619G	PANK2	NM_153638.3(PANK2):c.519C>G:p.Pro173=	coding	Benign/Likely_benign
20	3889633	C	A	C3889633A	PANK2	NM_024960.6(PANK2):c.-246+729C>A	coding	Pathogenic
20	3889670	C	G	C3889670G	PANK2	NM_153638.4(PANK2):c.570C>G:p.Tyr190Ter	coding	Pathogenic
20	3889752	C	A	C3889752A	PANK2	NM_153638.3(PANK2):c.628+24C>A	noncoding	Benign
20	3907977	A	G	A3907977G	PANK2	NM_153638.3(PANK2):c.680A>G:p.Tyr227Cys	coding	Pathogenic
20	3907997	A	G	A3907997G	PANK2	NM_024960.6(PANK2):c.-174A>G	coding	Pathogenic
20	3908087	C	T	C3908087T	PANK2	NM_024960.6(PANK2):c.-84C>T	coding	Pathogenic
20	3908116	G	A	G3908116A	PANK2	NM_153638.3(PANK2):c.819G>A:p.Leu273=	coding	Benign/Likely_benign
20	3908129	C	T	C3908129T	PANK2	NM_024960.6(PANK2):c.-42C>T	coding	Pathogenic
20	3908153	C	T	C3908153T	PANK2	NM_024960.6(PANK2):c.-18C>T	coding	Pathogenic
20	3908191	G	A	G3908191A	PANK2	NM_153638.3(PANK2):c.894G>A:p.Met298Ile	coding	Pathogenic
20	3908233	T	A	T3908233A	PANK2	NM_153638.3(PANK2):c.936T>A:p.Cys312Ter	coding	Pathogenic
20	3910646	T	C	T3910646C	PANK2	NM_001324193.2(PANK2):c.-258T>C	coding	Pathogenic
20	3910664	C	T	C3910664T	PANK2	NM_153638.3(PANK2):c.1069C>T:p.Arg357Trp	coding	Pathogenic
20	3910681	C	A	C3910681A	PANK2	NM_001324193.2(PANK2):c.-223C>A	coding	Pathogenic
20	3910806	A	T	A3910806T	PANK2	NM_153638.3(PANK2):c.1211A>T:p.Asn404Ile	coding	Pathogenic
20	3910831	G	T	G3910831T	PANK2	NM_153638.3(PANK2):c.1235+1G>T	coding	Pathogenic
20	3910852	C	T	C3910852T	PANK2	NM_153638.3(PANK2):c.1235+22C>T	noncoding	Benign
20	3912456	A	C	A3912456C	PANK2	NM_153638.3(PANK2):c.1236-2A>C	noncoding	Pathogenic
20	3912512	T	C	T3912512C	PANK2	NM_153638.3(PANK2):c.1290T>C:p.Thr430=	coding	Benign
20	3912514	T	C	T3912514C	PANK2	NM_024960.6(PANK2):c.419T>C:p.Phe140Ser	coding	Pathogenic
20	3912532	T	C	T3912532C	PANK2	NM_024960.6(PANK2):c.437T>C:p.Met146Thr	coding	Pathogenic
20	3912573	C	T	C3912573T	PANK2	NM_024960.6(PANK2):c.478C>T:p.Arg160Ter	coding	Pathogenic
20	3912634	G	A	G3912634A	PANK2	NM_024960.6(PANK2):c.539G>A:p.Ser180Asn	coding	Pathogenic
20	3916926	G	T	G3916926T	PANK2	NM_024960.6(PANK2):c.540-1G>T	noncoding	Pathogenic
20	3916955	C	T	C3916955T	PANK2	NM_153638.3(PANK2):c.1441C>T:p.Arg481Ter	coding	Pathogenic
20	3918695	G	A	G3918695A	PANK2	NM_153638.3(PANK2):c.1561G>A:p.Gly521Arg	coding	Pathogenic
20	3918717	C	T	C3918717T	PANK2	NM_153638.3(PANK2):c.1583C>T:p.Thr528Met	coding	Pathogenic
20	3923512	A	G	A3923512G	PANK2	NM_153638.3(PANK2):c.*218A>G	noncoding	Benign
20	4182190	G	T	G4182190T	SMOX	NM_175839.3(SMOX):c.711G>T:p.Ser237=	coding	Benign
20	4182727	G	T	G4182727T	SMOX	NM_175839.3(SMOX):c.1248G>T:p.Pro416=	coding	Benign
20	4182814	C	T	C4182814T	SMOX	NM_175839.3(SMOX):c.1335C>T:p.Ala445=	coding	Benign
20	4248274	G	C	G4248274C	ADRA1D	NM_000678.4(ADRA1D):c.684C>G:p.Ser228=	coding	Benign
20	4686278	C	G	C4686278G	PRNP	NM_000311.4(PRNP):c.-245C>G	noncoding	Benign
20	4686505	C	T	C4686505T	PRNP	NM_000311.5(PRNP):c.-18C>T	noncoding	Benign
20	4699336	C	T	C4699336T	PRNP	NM_000311.5(PRNP):c.116C>T:p.Pro39Leu	coding	Benign
20	4699379	C	T	C4699379T	PRNP	NM_000311.5(PRNP):c.159C>T:p.Gly53=	coding	Benign/Likely_benign
20	4699424	T	C	T4699424C	PRNP	NM_000311.5(PRNP):c.204T>C:p.Pro68=	coding	Benign
20	4699448	C	T	C4699448T	PRNP	NM_000311.5(PRNP):c.228C>T:p.Pro76=	coding	Benign/Likely_benign
20	4699466	A	G	A4699466G	PRNP	NM_000311.5(PRNP):c.246A>G:p.Gly82=	coding	Benign
20	4699472	T	C	T4699472C	PRNP	NM_000311.5(PRNP):c.252T>C:p.Pro84=	coding	Benign
20	4699525	C	T	C4699525T	PRNP	NM_000311.5(PRNP):c.305C>T:p.Pro102Leu	coding	Pathogenic
20	4699526	G	A	G4699526A	PRNP	NM_000311.5(PRNP):c.306G>A:p.Pro102=	coding	Benign
20	4699533	C	A	C4699533A	PRNP	NM_000311.5(PRNP):c.313C>A:p.Pro105Thr	coding	Pathogenic
20	4699533	C	T	C4699533T	PRNP	NM_000311.5(PRNP):c.313C>T:p.Pro105Ser	coding	Pathogenic
20	4699534	C	T	C4699534T	PRNP	NM_000311.5(PRNP):c.314C>T:p.Pro105Leu	coding	Pathogenic
20	4699570	C	T	C4699570T	PRNP	NM_000311.5(PRNP):c.350C>T:p.Ala117Val	coding	Pathogenic
20	4699571	A	G	A4699571G	PRNP	NM_000311.5(PRNP):c.351A>G:p.Ala117=	coding	Benign
20	4699592	C	G	C4699592G	PRNP	NM_000311.5(PRNP):c.372C>G:p.Gly124=	coding	Benign
20	4699605	A	G	A4699605G	PRNP	NM_000311.5(PRNP):c.385A>G:p.Met129Val	coding	Benign/Likely_benign
20	4699612	G	T	G4699612T	PRNP	NM_000311.5(PRNP):c.392G>T:p.Gly131Val	coding	Pathogenic
20	4699618	C	T	C4699618T	PRNP	NM_000311.5(PRNP):c.398C>T:p.Ala133Val	coding	Pathogenic
20	4699644	G	A	G4699644A	PRNP	NM_000311.5(PRNP):c.424G>A:p.Gly142Ser	coding	Benign/Likely_benign
20	4699655	T	G	T4699655G	PRNP	NM_000311.5(PRNP):c.435T>G:p.Tyr145Ter	coding	Pathogenic
20	4699698	C	T	C4699698T	PRNP	NM_000311.5(PRNP):c.478C>T:p.Gln160Ter	coding	Pathogenic
20	4699709	C	G	C4699709G	PRNP	NM_000311.5(PRNP):c.489C>G:p.Tyr163Ter	coding	Pathogenic
20	4699732	A	G	A4699732G	PRNP	NM_000311.5(PRNP):c.512A>G:p.Asn171Ser	coding	Benign
20	4699752	G	A	G4699752A	PRNP	NM_000311.5(PRNP):c.532G>A:p.Asp178Asn	coding	Pathogenic
20	4699758	G	A	G4699758A	PRNP	NM_000311.5(PRNP):c.538G>A:p.Val180Ile	coding	Pathogenic/Likely_pathogenic
20	4699767	A	G	A4699767G	PRNP	NM_000311.5(PRNP):c.547A>G:p.Thr183Ala	coding	Pathogenic
20	4699780	A	G	A4699780G	PRNP	NM_000311.5(PRNP):c.560A>G:p.His187Arg	coding	Pathogenic
20	4699813	T	C	T4699813C	PRNP	NM_000311.5(PRNP):c.593T>C:p.Phe198Ser	coding	Pathogenic
20	4699818	G	A	G4699818A	PRNP	NM_000311.5(PRNP):c.598G>A:p.Glu200Lys	coding	Pathogenic
20	4699848	G	A	G4699848A	PRNP	NM_000311.5(PRNP):c.628G>A:p.Val210Ile	coding	Pathogenic
20	4699851	G	C	G4699851C	PRNP	NM_000311.5(PRNP):c.631G>C:p.Glu211Gln	coding	Pathogenic
20	4699853	G	C	G4699853C	PRNP	NM_000311.5(PRNP):c.633G>C:p.Glu211Asp	coding	Pathogenic
20	4699870	A	G	A4699870G	PRNP	NM_000311.5(PRNP):c.650A>G:p.Gln217Arg	coding	Pathogenic
20	4699875	G	A	G4699875A	PRNP	NM_000311.5(PRNP):c.655G>A:p.Glu219Lys	coding	Benign
20	4699898	C	A	C4699898A	PRNP	NM_000311.5(PRNP):c.678C>A:p.Tyr226Ter	coding	Pathogenic
20	4699899	C	T	C4699899T	PRNP	NM_000311.5(PRNP):c.679C>T:p.Gln227Ter	coding	Pathogenic
20	4699986	A	T	A4699986T	PRNP	NM_000311.5(PRNP):c.*4A>T	noncoding	Benign
20	4700052	G	A	G4700052A	PRNP	NM_000311.5(PRNP):c.*70G>A	noncoding	Benign
20	4700188	A	G	A4700188G	PRNP	NM_000311.5(PRNP):c.*206A>G	noncoding	Benign
20	4700464	A	G	A4700464G	PRNP	NM_000311.5(PRNP):c.*482A>G	noncoding	Benign
20	4700574	T	C	T4700574C	PRNP	NM_000311.5(PRNP):c.*592T>C	noncoding	Benign
20	4700654	C	G	C4700654G	PRNP	NM_000311.5(PRNP):c.*672C>G	noncoding	Benign
20	4700664	A	G	A4700664G	PRNP	NM_000311.5(PRNP):c.*682A>G	noncoding	Benign
20	4700679	A	G	A4700679G	PRNP	NM_000311.5(PRNP):c.*697A>G	noncoding	Benign
20	4700782	C	T	C4700782T	PRNP	NM_000311.5(PRNP):c.*800C>T	noncoding	Benign
20	4700918	C	T	C4700918T	PRNP	NM_000311.5(PRNP):c.*936C>T	noncoding	Benign
20	4701045	G	A	G4701045A	PRNP	NM_000311.5(PRNP):c.*1063G>A	noncoding	Benign
20	4701394	T	A	T4701394A	PRNP	NM_000311.5(PRNP):c.*1412T>A	noncoding	Benign
20	4724718	C	T	C4724718T	PRND	NM_012409.4(PRND):c.167C>T:p.Pro56Leu	coding	Benign
20	4869998	G	A	G4869998A	SLC23A2	NM_005116.6(SLC23A2):c.1158C>T:p.Ala386=	coding	Benign
20	4873958	C	A	C4873958A	SLC23A2	NM_005116.6(SLC23A2):c.1080G>T:p.Pro360=	coding	Benign
20	4874663	G	A	G4874663A	SLC23A2	NM_005116.6(SLC23A2):c.858C>T:p.Tyr286=	coding	Benign
20	4883680	C	T	C4883680T	SLC23A2	NM_005116.6(SLC23A2):c.786G>A:p.Ala262=	coding	Benign
20	4899545	C	T	C4899545T	SLC23A2	NM_005116.6(SLC23A2):c.482+10G>A	noncoding	Benign
20	4912913	C	T	C4912913T	SLC23A2	NM_005116.6(SLC23A2):c.174G>A:p.Ala58=	coding	Benign
20	5115343	C	T	C5115343T	PCNA	NM_182649.2(PCNA):c.726G>A:p.Ala242=	coding	Benign
20	5115453	G	C	G5115453C	PCNA	NM_182649.2(PCNA):c.702C>G:p.Pro234=	coding	Benign
20	5115472	C	A	C5115472A	PCNA	NM_002592.2(PCNA):c.683G>T:p.Ser228Ile	coding	Pathogenic
20	5302073	G	T	G5302073T	PROKR2	NM_144773.3(PROKR2):c.1122C>A:p.Thr374=	coding	Benign
20	5302085	G	A	G5302085A	PROKR2	NM_144773.3(PROKR2):c.1110C>T:p.Asn370=	coding	Benign
20	5302190	C	T	C5302190T	PROKR2	NM_144773.3(PROKR2):c.1005G>A:p.Thr335=	coding	Benign
20	5302204	C	T	C5302204T	PROKR2	NM_144773.3(PROKR2):c.991G>A:p.Val331Met	coding	Benign/Likely_benign
20	5302226	C	T	C5302226T	PROKR2	NM_144773.3(PROKR2):c.969G>A:p.Met323Ile	coding	Pathogenic
20	5302393	G	A	G5302393A	PROKR2	NM_144773.3(PROKR2):c.802C>T:p.Arg268Cys	coding	Benign/Likely_benign
20	5302452	C	T	C5302452T	PROKR2	NM_144773.3(PROKR2):c.743G>A:p.Arg248Gln	coding	Benign
20	5302566	T	C	T5302566C	PROKR2	NM_144773.3(PROKR2):c.629A>G:p.Gln210Arg	coding	Pathogenic
20	5302610	C	G	C5302610G	PROKR2	NM_144773.3(PROKR2):c.585G>C:p.Thr195=	coding	Benign
20	5302670	G	C	G5302670C	PROKR2	NM_144773.3(PROKR2):c.525C>G:p.Ala175=	coding	Benign
20	5302688	C	T	C5302688T	PROKR2	NM_144773.3(PROKR2):c.507G>A:p.Thr169=	coding	Benign
20	5302730	G	A	G5302730A	PROKR2	NM_144773.3(PROKR2):c.465C>T:p.Leu155=	coding	Benign
20	5313911	C	T	C5313911T	PROKR2	NM_144773.3(PROKR2):c.458+1G>A	noncoding	Pathogenic
20	5313995	G	A	G5313995A	PROKR2	NM_144773.3(PROKR2):c.375C>T:p.His125=	coding	Benign
20	5314027	C	T	C5314027T	PROKR2	NM_144773.3(PROKR2):c.343G>A:p.Val115Met	coding	Pathogenic
20	5314418	G	T	G5314418T	PROKR2	NM_144773.3(PROKR2):c.-8-41C>A	noncoding	Benign
20	5578575	G	A	G5578575A	GPCPD1	NM_019593.5(GPCPD1):c.510C>T:p.Asp170=	coding	Benign
20	5923000	G	A	G5923000A	CHGB	NM_001819.3(CHGB):c.856G>A:p.Gly286Arg	coding	Benign
20	5923286	G	T	G5923286T	CHGB	NM_001819.3(CHGB):c.1142G>T:p.Trp381Leu	coding	Benign
20	5924109	T	C	T5924109C	CHGB	NM_001819.3(CHGB):c.1956+9T>C	noncoding	Benign
20	5944037	G	A	G5944037A	TRMT6	NM_015939.5(TRMT6):c.459-6C>T	noncoding	Benign
20	5950269	C	G	C5950269G	TRMT6	NM_015939.5(TRMT6):c.128+9G>C	noncoding	Benign
20	5954646	G	C	G5954646C	MCM8	NM_032485.6(MCM8):c.292G>C:p.Ala98Pro	coding	Benign
20	5954679	T	G	T5954679G	MCM8	NM_032485.6(MCM8):c.325T>G:p.Leu109Val	coding	Benign
20	5955179	A	G	A5955179G	MCM8	NM_032485.6(MCM8):c.414A>G:p.Ile138Met	coding	Benign
20	5955186	A	G	A5955186G	MCM8	NM_032485.6(MCM8):c.421A>G:p.Ile141Val	coding	Benign
20	5955211	C	G	C5955211G	MCM8	NM_032485.6(MCM8):c.446C>G:p.Pro149Arg	coding	Pathogenic
20	5955229	G	A	G5955229A	MCM8	NM_032485.6(MCM8):c.464G>A:p.Cys155Tyr	coding	Benign
20	5957187	A	G	A5957187G	MCM8	NM_032485.6(MCM8):c.548A>G:p.Asn183Ser	coding	Benign
20	5963328	C	T	C5963328T	MCM8	NM_032485.6(MCM8):c.844C>T:p.Leu282Phe	coding	Benign
20	5967485	C	T	C5967485T	MCM8	NM_032485.6(MCM8):c.925C>T:p.Arg309Ter	coding	Pathogenic
20	5967894	T	C	T5967894C	MCM8	NM_032485.6(MCM8):c.1092T>C:p.Asn364=	coding	Benign
20	5985921	G	A	G5985921A	MCM8	NM_032485.6(MCM8):c.1954-1G>A	noncoding	Pathogenic
20	5986117	A	G	A5986117G	MCM8	NM_032485.6(MCM8):c.2149A>G:p.Ile717Val	coding	Benign
20	5987326	C	T	C5987326T	MCM8	NM_032485.6(MCM8):c.2208C>T:p.Asp736=	coding	Benign
20	6075104	A	G	A6075104G	FERMT1	NM_017671.4(FERMT1):c.*2069T>C	noncoding	Benign
20	6075115	G	A	G6075115A	FERMT1	NM_017671.4(FERMT1):c.*2058C>T	noncoding	Benign
20	6075157	A	T	A6075157T	FERMT1	NM_017671.4(FERMT1):c.*2016T>A	noncoding	Benign
20	6075709	G	A	G6075709A	FERMT1	NM_017671.4(FERMT1):c.*1464C>T	noncoding	Benign
20	6075715	G	A	G6075715A	FERMT1	NM_017671.4(FERMT1):c.*1458C>T	noncoding	Benign
20	6075787	T	A	T6075787A	FERMT1	NM_017671.5(FERMT1):c.*1386A>T	noncoding	Benign
20	6075815	A	C	A6075815C	FERMT1	NM_017671.5(FERMT1):c.*1358T>G	noncoding	Benign
20	6075978	T	C	T6075978C	FERMT1	NM_017671.5(FERMT1):c.*1195A>G	noncoding	Benign
20	6076018	A	G	A6076018G	FERMT1	NM_017671.4(FERMT1):c.*1155T>C	noncoding	Benign
20	6076271	T	C	T6076271C	FERMT1	NM_017671.4(FERMT1):c.*902A>G	noncoding	Benign
20	6076979	C	T	C6076979T	FERMT1	NM_017671.4(FERMT1):c.*194G>A	noncoding	Benign
20	6076980	G	A	G6076980A	FERMT1	NM_017671.4(FERMT1):c.*193C>T	noncoding	Benign
20	6077101	C	A	C6077101A	FERMT1	NM_017671.4(FERMT1):c.*72G>T	noncoding	Benign
20	6077323	G	A	G6077323A	FERMT1	NM_017671.4(FERMT1):c.1884C>T:p.Asn628=	coding	Benign
20	6077354	A	G	A6077354G	FERMT1	NM_017671.4(FERMT1):c.1861-8T>C	noncoding	Benign
20	6079448	C	T	C6079448T	FERMT1	NM_017671.4(FERMT1):c.1848G>A:p.Trp616Ter	coding	Pathogenic
20	6079505	G	A	G6079505A	FERMT1	NM_017671.4(FERMT1):c.1791C>T:p.Thr597=	coding	Benign
20	6084063	A	G	A6084063G	FERMT1	NM_017671.4(FERMT1):c.1695T>C:p.Phe565=	coding	Benign
20	6084083	A	G	A6084083G	FERMT1	NM_017671.4(FERMT1):c.1675T>C:p.Trp559Arg	coding	Pathogenic
20	6084084	C	T	C6084084T	FERMT1	NM_017671.4(FERMT1):c.1674G>A:p.Ala558=	coding	Benign
20	6085082	C	T	C6085082T	FERMT1	NM_017671.4(FERMT1):c.1577G>A:p.Arg526Lys	coding	Benign
20	6085084	T	C	T6085084C	FERMT1	NM_017671.4(FERMT1):c.1575A>G:p.Lys525=	coding	Benign
20	6085243	C	T	C6085243T	FERMT1	NM_017671.4(FERMT1):c.1416G>A:p.Ser472=	coding	Benign
20	6085276	G	T	G6085276T	FERMT1	NM_017671.4(FERMT1):c.1383C>A:p.Tyr461Ter	coding	Pathogenic
20	6087773	T	C	T6087773C	FERMT1	NM_017671.4(FERMT1):c.1371+4A>G	noncoding	Pathogenic
20	6088951	T	C	T6088951C	FERMT1	NM_017671.4(FERMT1):c.1264+14A>G	noncoding	Benign
20	6089031	A	G	A6089031G	FERMT1	NM_017671.4(FERMT1):c.1198T>C:p.Ser400Pro	coding	Pathogenic
20	6089053	A	C	A6089053C	FERMT1	NM_017671.4(FERMT1):c.1176T>G:p.Tyr392Ter	coding	Pathogenic
20	6089076	G	A	G6089076A	FERMT1	NM_017671.4(FERMT1):c.1153C>T:p.Leu385=	coding	Benign
20	6094199	C	T	C6094199T	FERMT1	NM_017671.4(FERMT1):c.1139+740G>A	noncoding	Pathogenic
20	6094937	A	G	A6094937G	FERMT1	NM_017671.4(FERMT1):c.1139+2T>C	noncoding	Pathogenic
20	6097034	C	T	C6097034T	FERMT1	NM_017671.4(FERMT1):c.958-1G>A	coding	Pathogenic
20	6097523	C	T	C6097523T	FERMT1	NM_017671.4(FERMT1):c.957+1G>A	noncoding	Pathogenic
20	6097571	C	A	C6097571A	FERMT1	NM_017671.4(FERMT1):c.910G>T:p.Glu304Ter	coding	Pathogenic
20	6097592	T	C	T6097592C	FERMT1	NM_017671.4(FERMT1):c.889A>G:p.Arg297Gly	coding	Pathogenic
20	6097619	G	A	G6097619A	FERMT1	NM_017671.4(FERMT1):c.862C>T:p.Arg288Ter	coding	Pathogenic
20	6107570	G	A	G6107570A	FERMT1	NM_017671.4(FERMT1):c.811C>T:p.Arg271Ter	coding	Pathogenic
20	6107594	G	A	G6107594A	FERMT1	NM_017671.4(FERMT1):c.787C>T:p.Gln263Ter	coding	Pathogenic
20	6107618	G	A	G6107618A	FERMT1	NM_017671.4(FERMT1):c.763C>T:p.Arg255Cys	coding	Benign
20	6110322	A	G	A6110322G	FERMT1	NM_017671.4(FERMT1):c.722T>C:p.Val241Ala	coding	Benign
20	6110369	G	T	G6110369T	FERMT1	NM_017671.4(FERMT1):c.675C>A:p.Pro225=	coding	Benign
20	6112469	A	G	A6112469G	FERMT1	NM_017671.4(FERMT1):c.532+8T>C	noncoding	Benign
20	6112530	A	G	A6112530G	FERMT1	NM_017671.4(FERMT1):c.479T>C:p.Ile160Thr	coding	Benign
20	6112542	T	C	T6112542C	FERMT1	NM_017671.4(FERMT1):c.467A>G:p.Asn156Ser	coding	Benign
20	6115962	G	A	G6115962A	FERMT1	NM_017671.4(FERMT1):c.234C>T:p.Asp78=	coding	Benign
20	6115985	G	A	G6115985A	FERMT1	NM_017671.4(FERMT1):c.211C>T:p.Leu71=	coding	Benign
20	6116048	C	T	C6116048T	FERMT1	NM_017671.4(FERMT1):c.152-4G>A	noncoding	Benign
20	6119441	A	G	A6119441G	FERMT1	NM_017671.4(FERMT1):c.114T>C:p.His38=	coding	Benign
20	6119504	G	A	G6119504A	FERMT1	NM_017671.4(FERMT1):c.51C>T:p.Arg17=	coding	Benign
20	6119583	A	C	A6119583C	FERMT1	NM_017671.4(FERMT1):c.-18-11T>G	noncoding	Benign
20	6122775	T	C	T6122775C	FERMT1	NM_017671.4(FERMT1):c.-20A>G	noncoding	Pathogenic
20	6122783	A	G	A6122783G	FERMT1	NM_017671.4(FERMT1):c.-28T>C	noncoding	Benign
20	6122860	G	C	G6122860C	FERMT1	NM_017671.4(FERMT1):c.-105C>G	noncoding	Benign
20	6122940	T	C	T6122940C	FERMT1	NM_017671.4(FERMT1):c.-185A>G	noncoding	Benign
20	6123056	G	A	G6123056A	FERMT1	NM_017671.4(FERMT1):c.-301C>T	noncoding	Benign
20	6123121	G	C	G6123121C	FERMT1	NM_017671.4(FERMT1):c.-366C>G	noncoding	Benign
20	6123211	G	T	G6123211T	FERMT1	NM_017671.4(FERMT1):c.-456C>A	noncoding	Benign
20	6123269	A	G	A6123269G	FERMT1	NM_017671.4(FERMT1):c.-514T>C	noncoding	Benign
20	6123401	C	G	C6123401G	FERMT1	NM_017671.4(FERMT1):c.-646G>C	noncoding	Benign
20	6123421	C	T	C6123421T	FERMT1	NM_017671.4(FERMT1):c.-666G>A	noncoding	Benign
20	6770169	C	T	C6770169T	BMP2	NM_001200.4(BMP2):c.43C>T:p.Gln15Ter	coding	Pathogenic
20	6770235	T	G	T6770235G	BMP2	NM_001200.4(BMP2):c.109T>G:p.Ser37Ala	coding	Benign
20	6770387	A	G	A6770387G	BMP2	NM_001200.4(BMP2):c.261A>G:p.Ser87=	coding	Benign
20	6778406	C	T	C6778406T	BMP2	NM_001200.4(BMP2):c.508C>T:p.Arg170Ter	coding	Pathogenic
20	6778450	G	A	G6778450A	BMP2	NM_001200.4(BMP2):c.552G>A:p.Ser184=	coding	Benign/Likely_benign
20	6778468	A	T	A6778468T	BMP2	NM_001200.4(BMP2):c.570A>T:p.Arg190Ser	coding	Benign
20	6779059	C	T	C6779059T	BMP2	NM_001200.4(BMP2):c.1161C>T:p.Asp387=	coding	Benign
20	8132482	C	A	C8132482A	PLCB1	NM_015192.4(PLCB1):c.-170C>A	noncoding	Benign
20	8132758	T	C	T8132758C	PLCB1	NM_015192.4(PLCB1):c.99+8T>C	noncoding	Benign/Likely_benign
20	8150296	C	T	C8150296T	PLCB1	NM_015192.4(PLCB1):c.102C>T:p.Asp34=	coding	Benign/Likely_benign
20	8646175	A	T	A8646175T	PLCB1	NM_015192.4(PLCB1):c.458A>T:p.Glu153Val	coding	Benign/Likely_benign
20	8649437	T	C	T8649437C	PLCB1	NM_015192.4(PLCB1):c.582T>C:p.Leu194=	coding	Benign/Likely_benign
20	8657228	A	C	A8657228C	PLCB1	NM_015192.4(PLCB1):c.639A>C:p.Arg213Ser	coding	Benign/Likely_benign
20	8684993	A	G	A8684993G	PLCB1	NM_015192.4(PLCB1):c.924A>G:p.Ser308=	coding	Benign/Likely_benign
20	8697790	T	C	T8697790C	PLCB1	NM_015192.4(PLCB1):c.1167+7T>C	noncoding	Benign/Likely_benign
20	8697799	G	A	G8697799A	PLCB1	NM_015192.4(PLCB1):c.1167+16G>A	noncoding	Benign
20	8716260	T	G	T8716260G	PLCB1	NM_015192.4(PLCB1):c.1251-4T>G	noncoding	Benign/Likely_benign
20	8716345	T	A	T8716345A	PLCB1	NM_015192.4(PLCB1):c.1332T>A:p.Tyr444Ter	coding	Pathogenic
20	8722436	C	T	C8722436T	PLCB1	NM_015192.4(PLCB1):c.1581+15C>T	noncoding	Benign/Likely_benign
20	8724686	G	T	G8724686T	PLCB1	NM_015192.4(PLCB1):c.1612G>T:p.Glu538Ter	coding	Pathogenic
20	8737066	G	A	G8737066A	PLCB1	NM_015192.4(PLCB1):c.2082G>A:p.Gly694=	coding	Benign/Likely_benign
20	8737183	G	A	G8737183A	PLCB1	NM_015192.4(PLCB1):c.2199G>A:p.Val733=	coding	Benign
20	8740457	C	T	C8740457T	PLCB1	NM_015192.4(PLCB1):c.2413+9C>T	noncoding	Benign/Likely_benign
20	8757087	G	A	G8757087A	PLCB1	NM_015192.4(PLCB1):c.2565G>A:p.Ala855=	coding	Benign/Likely_benign
20	8760423	T	G	T8760423G	PLCB1	NM_015192.4(PLCB1):c.2673T>G:p.Pro891=	coding	Benign/Likely_benign
20	8774596	T	C	T8774596C	PLCB1	NM_015192.4(PLCB1):c.2988T>C:p.Ala996=	coding	Benign
20	8788457	A	G	A8788457G	PLCB1	NM_015192.4(PLCB1):c.3120A>G:p.Gln1040=	coding	Benign/Likely_benign
20	8788466	G	T	G8788466T	PLCB1	NM_015192.4(PLCB1):c.3129G>T:p.Thr1043=	coding	Benign/Likely_benign
20	8788533	C	T	C8788533T	PLCB1	NM_015192.4(PLCB1):c.3188+8C>T	noncoding	Benign
20	8788646	T	C	T8788646C	PLCB1	NM_015192.4(PLCB1):c.3202T>C:p.Leu1068=	coding	Benign
20	8790175	C	T	C8790175T	PLCB1	NM_015192.4(PLCB1):c.3337C>T:p.Leu1113=	coding	Benign
20	8790220	C	T	C8790220T	PLCB1	NM_015192.4(PLCB1):c.3382C>T:p.His1128Tyr	coding	Pathogenic
20	8883400	A	G	A8883400G	PLCB1	NM_015192.4(PLCB1):c.*1551A>G	noncoding	Benign
20	8883530	T	C	T8883530C	PLCB1	NM_015192.4(PLCB1):c.*1681T>C	noncoding	Benign
20	8883556	A	G	A8883556G	PLCB1	NM_015192.4(PLCB1):c.*1707A>G	noncoding	Benign
20	8884359	C	T	C8884359T	PLCB1	NM_015192.4(PLCB1):c.*2510C>T	noncoding	Benign
20	9307875	G	A	G9307875A	PLCB4	NM_000933.3(PLCB4):c.61G>A:p.Ala21Thr	coding	Benign
20	9338886	C	T	C9338886T	PLCB4	NM_000933.3(PLCB4):c.226-8C>T	noncoding	Benign
20	9362947	G	A	G9362947A	PLCB4	NM_001172646.2(PLCB4):c.421G>A:p.Val141Ile	coding	Benign
20	9365473	G	A	G9365473A	PLCB4	NM_000933.3(PLCB4):c.462G>A:p.Leu154=	coding	Benign/Likely_benign
20	9371208	C	T	C9371208T	PLCB4	NM_000933.3(PLCB4):c.504-6C>T	noncoding	Benign
20	9372324	G	A	G9372324A	PLCB4	NM_001172646.2(PLCB4):c.607G>A:p.Ala203Thr	coding	Benign
20	9384333	A	C	A9384333C	PLCB4	NM_000933.3(PLCB4):c.986A>C:p.Asn329Thr	coding	Pathogenic
20	9384333	A	G	A9384333G	PLCB4	NM_000933.3(PLCB4):c.986A>G:p.Asn329Ser	coding	Pathogenic
20	9387455	A	G	A9387455G	PLCB4	NM_000933.3(PLCB4):c.1065-8A>G	noncoding	Benign
20	9387471	A	T	A9387471T	PLCB4	NM_000933.3(PLCB4):c.1073A>T:p.Glu358Val	coding	Pathogenic
20	9387476	G	A	G9387476A	PLCB4	NM_000933.3(PLCB4):c.1078G>A:p.Asp360Asn	coding	Pathogenic
20	9387477	A	T	A9387477T	PLCB4	NM_000933.3(PLCB4):c.1079A>T:p.Asp360Val	coding	Pathogenic
20	9393628	A	G	A9393628G	PLCB4	NM_000933.3(PLCB4):c.1364A>G:p.Lys455Arg	coding	Benign
20	9393693	C	T	C9393693T	PLCB4	NM_001172646.2(PLCB4):c.1414+15C>T	noncoding	Benign
20	9395536	T	C	T9395536C	PLCB4	NM_000933.3(PLCB4):c.1428T>C:p.Ala476=	coding	Benign
20	9395570	T	G	T9395570G	PLCB4	NM_000933.3(PLCB4):c.1462T>G:p.Ser488Ala	coding	Benign
20	9395593	C	T	C9395593T	PLCB4	NM_000933.3(PLCB4):c.1485C>T:p.Asp495=	coding	Benign
20	9407946	G	A	G9407946A	PLCB4	NM_001172646.2(PLCB4):c.1677G>A:p.Ala559=	coding	Benign
20	9408007	A	G	A9408007G	PLCB4	NM_000933.3(PLCB4):c.1702A>G:p.Met568Val	coding	Benign
20	9408018	C	T	C9408018T	PLCB4	NM_000933.3(PLCB4):c.1713C>T:p.Tyr571=	coding	Benign
20	9408676	C	T	C9408676T	PLCB4	NM_000933.3(PLCB4):c.1797C>T:p.Val599=	coding	Benign
20	9409067	C	T	C9409067T	PLCB4	NM_000933.3(PLCB4):c.1849C>T:p.Arg617Trp	coding	Benign
20	9409079	C	T	C9409079T	PLCB4	NM_000933.3(PLCB4):c.1861C>T:p.Arg621Cys	coding	Pathogenic
20	9409080	G	A	G9409080A	PLCB4	NM_000933.3(PLCB4):c.1862G>A:p.Arg621His	coding	Pathogenic
20	9409080	G	T	G9409080T	PLCB4	NM_000933.3(PLCB4):c.1862G>T:p.Arg621Leu	coding	Pathogenic
20	9409086	A	G	A9409086G	PLCB4	NM_000933.3(PLCB4):c.1868A>G:p.Tyr623Cys	coding	Pathogenic
20	9409106	G	T	G9409106T	PLCB4	NM_000933.3(PLCB4):c.1888G>T:p.Asp630Tyr	coding	Pathogenic
20	9409166	A	C	A9409166C	PLCB4	NM_000933.3(PLCB4):c.1948A>C:p.Asn650His	coding	Pathogenic
20	9411096	A	G	A9411096G	PLCB4	NM_000933.3(PLCB4):c.2015+8A>G	noncoding	Benign
20	9419800	C	T	C9419800T	PLCB4	NM_000933.3(PLCB4):c.2016-7C>T	noncoding	Benign
20	9419917	C	A	C9419917A	PLCB4	NM_000933.3(PLCB4):c.2118+8C>A	noncoding	Benign
20	9419918	C	G	C9419918G	PLCB4	NM_000933.3(PLCB4):c.2118+9C>G	noncoding	Benign
20	9421293	A	G	A9421293G	PLCB4	NM_000933.3(PLCB4):c.2119-4A>G	noncoding	Benign
20	9423759	G	C	G9423759C	PLCB4	NM_000933.3(PLCB4):c.2295G>C:p.Pro765=	coding	Benign
20	9423828	G	A	G9423828A	PLCB4	NM_000933.3(PLCB4):c.2364G>A:p.Pro788=	coding	Benign
20	9437016	C	T	C9437016T	PLCB4	NM_000933.3(PLCB4):c.2592C>T:p.Asp864=	coding	Benign
20	9437064	C	T	C9437064T	PLCB4	NM_000933.3(PLCB4):c.2640C>T:p.Thr880=	coding	Benign
20	9444163	A	C	A9444163C	PLCB4	NM_000933.3(PLCB4):c.2779-15A>C	noncoding	Benign
20	9444221	C	A	C9444221A	PLCB4	NM_000933.3(PLCB4):c.2822C>A:p.Ser941Tyr	coding	Benign/Likely_benign
20	9444257	C	A	C9444257A	PLCB4	NM_000933.3(PLCB4):c.2844+14C>A	noncoding	Benign
20	9453402	A	G	A9453402G	PLCB4	NM_000933.3(PLCB4):c.2900A>G:p.Gln967Arg	coding	Benign
20	9457408	T	C	T9457408C	PLCB4	NM_000933.3(PLCB4):c.2961-6T>C	noncoding	Benign
20	9457445	A	G	A9457445G	PLCB4	NM_000933.3(PLCB4):c.2992A>G:p.Thr998Ala	coding	Benign
20	9457462	G	A	G9457462A	PLCB4	NM_000933.3(PLCB4):c.3009G>A:p.Gln1003=	coding	Benign
20	9459681	T	C	T9459681C	PLCB4	NM_000933.3(PLCB4):c.3083T>C:p.Ile1028Thr	coding	Benign
20	9459684	A	G	A9459684G	PLCB4	NM_000933.3(PLCB4):c.3086A>G:p.Asn1029Ser	coding	Benign
20	9459765	A	G	A9459765G	PLCB4	NM_001172646.2(PLCB4):c.3203A>G:p.Asn1068Ser	coding	Benign
20	9459772	C	G	C9459772G	PLCB4	NM_001172646.2(PLCB4):c.3210C>G:p.His1070Gln	coding	Benign
20	9478922	C	T	C9478922T	PLCB4	NM_000933.3(PLCB4):c.3498C>T:p.Gly1166=	coding	Benign
20	9479099	A	T	A9479099T	PLCB4	NM_000933.3(PLCB4):c.*90A>T	noncoding	Benign
20	9479218	A	C	A9479218C	PLCB4	NM_000933.3(PLCB4):c.*209A>C	noncoding	Benign
20	9479239	G	C	G9479239C	PLCB4	NM_000933.3(PLCB4):c.*230G>C	noncoding	Benign
20	9479280	A	G	A9479280G	PLCB4	NM_000933.3(PLCB4):c.*271A>G	noncoding	Benign
20	9479354	C	T	C9479354T	PLCB4	NM_000933.3(PLCB4):c.*345C>T	noncoding	Benign
20	9479383	A	G	A9479383G	PLCB4	NM_000933.3(PLCB4):c.*374A>G	noncoding	Benign
20	9479747	G	A	G9479747A	PLCB4	NM_000933.3(PLCB4):c.*738G>A	noncoding	Benign
20	9479820	T	C	T9479820C	PLCB4	NM_001172646.2(PLCB4):c.*831T>C	noncoding	Benign
20	9479964	T	C	T9479964C	PLCB4	NM_000933.3(PLCB4):c.*955T>C	noncoding	Benign
20	9480012	A	C	A9480012C	PLCB4	NM_000933.3(PLCB4):c.*1003A>C	noncoding	Benign
20	9480145	C	A	C9480145A	PLCB4	NM_001172646.2(PLCB4):c.*1156C>A	noncoding	Benign
20	9480211	G	A	G9480211A	PLCB4	NM_000933.3(PLCB4):c.*1202G>A	noncoding	Benign
20	9480496	G	C	G9480496C	PLCB4	NM_000933.3(PLCB4):c.*1487G>C	noncoding	Benign
20	9480740	A	T	A9480740T	PLCB4	NM_000933.3(PLCB4):c.*1731A>T	noncoding	Benign
20	9480775	G	A	G9480775A	PLCB4	NM_000933.3(PLCB4):c.*1766G>A	noncoding	Benign
20	9544431	A	G	A9544431G	PAK5	NM_020341.4(PAK5):c.1807T>C:p.Leu603=	coding	Benign
20	9566376	G	A	G9566376A	PAK5	NM_020341.4(PAK5):c.999C>T:p.Tyr333=	coding	Benign
20	9580487	C	T	C9580487T	PAK5	NM_020341.4(PAK5):c.648G>A:p.Lys216=	coding	Benign
20	9580619	T	C	T9580619C	PAK5	NM_020341.4(PAK5):c.516A>G:p.Val172=	coding	Benign
20	10253609	G	A	G10253609A	SNAP25	NM_130811.3(SNAP25):c.-63-21820G>A	noncoding	Benign
20	10277687	G	T	G10277687T	SNAP25	NM_130811.4(SNAP25):c.75G>T:p.Ser25=	coding	Benign
20	10293197	T	A	T10293197A	SNAP25	NM_003081.4(SNAP25):c.281+198T>A	coding	Pathogenic
20	10296973	C	T	C10296973T	SNAP25	NM_003081.4(SNAP25):c.330C>T:p.Asp110=	coding	Benign
20	10306125	C	T	C10306125T	SNAP25	NM_003081.4(SNAP25):c.553-4C>T	noncoding	Benign
20	10404812	C	T	C10404812T	MKKS	NM_018848.3(MKKS):c.*435G>A	noncoding	Benign
20	10404855	A	G	A10404855G	MKKS	NM_018848.3(MKKS):c.*392T>C	noncoding	Benign
20	10405201	C	A	C10405201A	MKKS	NM_018848.3(MKKS):c.*46G>T	noncoding	Benign/Likely_benign
20	10405209	T	C	T10405209C	MKKS	NM_018848.3(MKKS):c.*38A>G	noncoding	Benign/Likely_benign
20	10405365	C	A	C10405365A	MKKS	NM_018848.3(MKKS):c.1595G>T:p.Gly532Val	coding	Benign
20	10405411	G	A	G10405411A	MKKS	NM_018848.3(MKKS):c.1549C>T:p.Arg517Cys	coding	Benign
20	10405464	C	G	C10405464G	MKKS	NM_018848.3(MKKS):c.1496G>C:p.Cys499Ser	coding	Pathogenic
20	10405498	C	T	C10405498T	MKKS	NM_018848.3(MKKS):c.1462G>A:p.Ala488Thr	coding	Benign/Likely_benign
20	10405626	A	C	A10405626C	MKKS	NM_170784.2(MKKS):c.1334T>G:p.Leu445Ter	coding	Pathogenic
20	10408832	T	A	T10408832A	MKKS	NM_018848.3(MKKS):c.986-29A>T	noncoding	Benign
20	10412497	C	G	C10412497G	MKKS	NM_018848.3(MKKS):c.985+33G>C	noncoding	Benign
20	10412514	A	C	A10412514C	MKKS	NM_018848.3(MKKS):c.985+16T>G	noncoding	Benign
20	10412723	A	C	A10412723C	MKKS	NM_018848.3(MKKS):c.792T>G:p.Tyr264Ter	coding	Pathogenic
20	10412723	A	T	A10412723T	MKKS	NM_018848.3(MKKS):c.792T>A:p.Tyr264Ter	coding	Pathogenic
20	10412902	T	A	T10412902A	MKKS	NM_018848.3(MKKS):c.613A>T:p.Lys205Ter	coding	Pathogenic
20	10412981	G	A	G10412981A	MKKS	NM_018848.3(MKKS):c.534C>T:p.Ile178=	coding	Benign
20	10413023	A	T	A10413023T	MKKS	NM_018848.3(MKKS):c.492T>A:p.Cys164Ter	coding	Pathogenic
20	10413073	G	A	G10413073A	MKKS	NM_018848.3(MKKS):c.442C>T:p.Gln148Ter	coding	Pathogenic
20	10413099	C	T	C10413099T	MKKS	NM_018848.3(MKKS):c.416G>A:p.Arg139Gln	coding	Benign/Likely_benign
20	10413100	G	A	G10413100A	MKKS	NM_170784.3(MKKS):c.415C>T:p.Arg139Ter	coding	Pathogenic
20	10413220	A	G	A10413220G	MKKS	NM_018848.3(MKKS):c.295T>C:p.Cys99Arg	coding	Pathogenic
20	10413340	G	A	G10413340A	MKKS	NM_170784.3(MKKS):c.175C>T:p.Gln59Ter	coding	Pathogenic
20	10413346	T	C	T10413346C	MKKS	NM_018848.3(MKKS):c.169A>G:p.Thr57Ala	coding	Pathogenic
20	10413360	C	T	C10413360T	MKKS	NM_018848.3(MKKS):c.155G>A:p.Gly52Asp	coding	Pathogenic
20	10413398	G	A	G10413398A	MKKS	NM_018848.3(MKKS):c.117C>T:p.Pro39=	coding	Benign
20	10413399	G	A	G10413399A	MKKS	NM_170784.2(MKKS):c.116C>T:p.Pro39Leu	coding	Pathogenic
20	10413405	T	C	T10413405C	MKKS	NM_018848.3(MKKS):c.110A>G:p.Tyr37Cys	coding	Pathogenic
20	10413486	G	T	G10413486T	MKKS	NM_170784.3(MKKS):c.29C>A:p.Ser10Ter	coding	Pathogenic
20	10413499	C	T	C10413499T	MKKS	NM_018848.3(MKKS):c.16G>A:p.Ala6Thr	coding	Benign/Likely_benign
20	10413572	A	G	A10413572G	MKKS	NM_018848.3(MKKS):c.-58T>C	noncoding	Benign
20	10413588	C	T	C10413588T	MKKS	NM_018848.3(MKKS):c.-74G>A	noncoding	Benign
20	10420728	G	A	G10420728A	MKKS	NM_170784.3(MKKS):c.-618C>T	noncoding	Benign
20	10637926	T	C	T10637926C	JAG1	NM_000214.3(JAG1):c.*1572A>G	noncoding	Benign
20	10638005	T	C	T10638005C	JAG1	NM_000214.3(JAG1):c.*1493A>G	noncoding	Benign
20	10638366	A	C	A10638366C	JAG1	NM_000214.3(JAG1):c.*1132T>G	noncoding	Benign
20	10638414	C	G	C10638414G	JAG1	NM_000214.3(JAG1):c.*1084G>C	noncoding	Benign
20	10638742	T	C	T10638742C	JAG1	NM_000214.3(JAG1):c.*756A>G	noncoding	Benign
20	10638879	G	A	G10638879A	JAG1	NM_000214.3(JAG1):c.*619C>T	noncoding	Benign
20	10639492	G	A	G10639492A	JAG1	NM_000214.3(JAG1):c.*6C>T	noncoding	Benign
20	10639600	G	A	G10639600A	JAG1	NM_000214.3(JAG1):c.3555C>T:p.Pro1185=	coding	Benign/Likely_benign
20	10639627	G	A	G10639627A	JAG1	NM_000214.3(JAG1):c.3528C>T:p.Tyr1176=	coding	Benign
20	10639648	C	G	C10639648G	JAG1	NM_000214.3(JAG1):c.3507G>C:p.Arg1169=	coding	Benign/Likely_benign
20	10639738	A	G	A10639738G	JAG1	NM_000214.3(JAG1):c.3417T>C:p.Tyr1139=	coding	Benign
20	10639822	G	A	G10639822A	JAG1	NM_000214.3(JAG1):c.3333C>T:p.Thr1111=	coding	Benign/Likely_benign
20	10640814	T	G	T10640814G	JAG1	NM_000214.3(JAG1):c.3168A>C:p.Arg1056Ser	coding	Benign
20	10640842	G	T	G10640842T	JAG1	NM_000214.3(JAG1):c.3140C>A:p.Ser1047Ter	coding	Pathogenic
20	10640868	A	C	A10640868C	JAG1	NM_000214.3(JAG1):c.3114T>G:p.Leu1038=	coding	Benign
20	10641112	C	A	C10641112A	JAG1	NM_000214.3(JAG1):c.3048+1G>T	noncoding	Pathogenic
20	10641112	C	T	C10641112T	JAG1	NM_000214.3(JAG1):c.3048+1G>A	noncoding	Pathogenic
20	10641155	G	T	G10641155T	JAG1	NM_000214.3(JAG1):c.3006C>A:p.Cys1002Ter	coding	Pathogenic
20	10641171	G	C	G10641171C	JAG1	NM_000214.3(JAG1):c.2990C>G:p.Ser997Ter	coding	Pathogenic
20	10641193	T	A	T10641193A	JAG1	NM_000214.3(JAG1):c.2968A>T:p.Lys990Ter	coding	Pathogenic
20	10641459	C	G	C10641459G	JAG1	NM_000214.3(JAG1):c.2916+1G>C	noncoding	Pathogenic
20	10641532	G	T	G10641532T	JAG1	NM_000214.3(JAG1):c.2844C>A:p.Cys948Ter	coding	Pathogenic
20	10641566	C	T	C10641566T	JAG1	NM_000214.3(JAG1):c.2810G>A:p.Arg937Gln	coding	Benign/Likely_benign
20	10641573	C	A	C10641573A	JAG1	NM_000214.3(JAG1):c.2803G>T:p.Glu935Ter	coding	Pathogenic
20	10641610	G	A	G10641610A	JAG1	NM_000214.3(JAG1):c.2766C>T:p.Asp922=	coding	Benign
20	10641633	G	A	G10641633A	JAG1	NM_000214.3(JAG1):c.2743C>T:p.Gln915Ter	coding	Pathogenic
20	10641670	G	T	G10641670T	JAG1	NM_000214.3(JAG1):c.2706C>A:p.Cys902Ter	coding	Pathogenic
20	10641688	C	T	C10641688T	JAG1	NM_000214.3(JAG1):c.2688G>A:p.Trp896Ter	coding	Pathogenic
20	10641782	C	A	C10641782A	JAG1	NM_000214.3(JAG1):c.2682+1G>T	noncoding	Pathogenic
20	10641853	G	C	G10641853C	JAG1	NM_000214.3(JAG1):c.2612C>G:p.Pro871Arg	coding	Benign
20	10642494	G	A	G10642494A	JAG1	NM_000214.3(JAG1):c.2566C>T:p.Gln856Ter	coding	Pathogenic
20	10642501	G	A	G10642501A	JAG1	NM_000214.3(JAG1):c.2559C>T:p.Ala853=	coding	Benign
20	10642528	A	T	A10642528T	JAG1	NM_000214.3(JAG1):c.2532T>A:p.Cys844Ter	coding	Pathogenic
20	10642533	G	A	G10642533A	JAG1	NM_000214.3(JAG1):c.2527C>T:p.Arg843Trp	coding	Benign
20	10642587	G	A	G10642587A	JAG1	NM_000214.3(JAG1):c.2473C>T:p.Gln825Ter	coding	Pathogenic
20	10642618	T	G	T10642618G	JAG1	NM_000214.3(JAG1):c.2459-17A>C	noncoding	Benign
20	10643748	T	C	T10643748C	JAG1	NM_000214.3(JAG1):c.2458+30A>G	noncoding	Benign
20	10643812	A	T	A10643812T	JAG1	NM_000214.3(JAG1):c.2424T>A:p.Cys808Ter	coding	Pathogenic
20	10643818	G	T	G10643818T	JAG1	NM_000214.3(JAG1):c.2418C>A:p.Cys806Ter	coding	Pathogenic
20	10643854	G	A	G10643854A	JAG1	NM_000214.3(JAG1):c.2382C>T:p.Ser794=	coding	Benign
20	10644385	C	T	C10644385T	JAG1	NM_000214.3(JAG1):c.2345-1G>A	coding	Pathogenic
20	10644848	G	C	G10644848C	JAG1	NM_000214.3(JAG1):c.2344+15C>G	noncoding	Benign/Likely_benign
20	10644885	C	T	C10644885T	JAG1	NM_000214.3(JAG1):c.2322G>A:p.Trp774Ter	coding	Pathogenic
20	10644897	G	T	G10644897T	JAG1	NM_000214.3(JAG1):c.2310C>A:p.Cys770Ter	coding	Pathogenic
20	10644903	G	T	G10644903T	JAG1	NM_000214.3(JAG1):c.2304C>A:p.Cys768Ter	coding	Pathogenic
20	10644906	C	T	C10644906T	JAG1	NM_000214.3(JAG1):c.2301G>A:p.Thr767=	coding	Benign/Likely_benign
20	10644976	C	T	C10644976T	JAG1	NM_000214.3(JAG1):c.2231G>A:p.Arg744Gln	coding	Benign/Likely_benign
20	10644977	G	A	G10644977A	JAG1	NM_000214.3(JAG1):c.2230C>T:p.Arg744Ter	coding	Pathogenic
20	10645156	T	G	T10645156G	JAG1	NM_000214.3(JAG1):c.2214A>C:p.Thr738=	coding	Benign
20	10645248	G	A	G10645248A	JAG1	NM_000214.3(JAG1):c.2122C>T:p.Gln708Ter	coding	Pathogenic
20	10645351	C	G	C10645351G	JAG1	NM_000214.3(JAG1):c.2113+5G>C	noncoding	Pathogenic
20	10645355	C	A	C10645355A	JAG1	NM_000214.3(JAG1):c.2113+1G>T	noncoding	Pathogenic
20	10645363	G	T	G10645363T	JAG1	NM_000214.3(JAG1):c.2106C>A:p.Cys702Ter	coding	Pathogenic
20	10645389	T	A	T10645389A	JAG1	NM_000214.3(JAG1):c.2080A>T:p.Lys694Ter	coding	Pathogenic
20	10645391	C	T	C10645391T	JAG1	NM_000214.3(JAG1):c.2078G>A:p.Cys693Tyr	coding	Pathogenic
20	10645396	A	G	A10645396G	JAG1	NM_000214.3(JAG1):c.2073T>C:p.Cys691=	coding	Benign/Likely_benign
20	10645993	C	T	C10645993T	JAG1	NM_000214.3(JAG1):c.1977G>A:p.Trp659Ter	coding	Pathogenic
20	10647018	G	A	G10647018A	JAG1	NM_000214.3(JAG1):c.1806C>T:p.His602=	coding	Benign/Likely_benign
20	10647960	C	A	C10647960A	JAG1	NM_000214.3(JAG1):c.1720G>T:p.Val574Leu	coding	Pathogenic
20	10647960	C	G	C10647960G	JAG1	NM_000214.3(JAG1):c.1720G>C:p.Val574Leu	coding	Pathogenic
20	10648000	G	T	G10648000T	JAG1	NM_000214.3(JAG1):c.1680C>A:p.Cys560Ter	coding	Pathogenic
20	10648023	C	A	C10648023A	JAG1	NM_000214.3(JAG1):c.1657G>T:p.Glu553Ter	coding	Pathogenic
20	10648025	G	A	G10648025A	JAG1	NM_000214.3(JAG1):c.1655C>T:p.Pro552Leu	coding	Benign/Likely_benign
20	10648065	G	A	G10648065A	JAG1	NM_000214.3(JAG1):c.1615C>T:p.Gln539Ter	coding	Pathogenic
20	10648102	G	A	G10648102A	JAG1	NM_000214.3(JAG1):c.1578C>T:p.Ile526=	coding	Benign/Likely_benign
20	10648590	G	A	G10648590A	JAG1	NM_000214.3(JAG1):c.1528C>T:p.Gln510Ter	coding	Pathogenic
20	10648679	G	A	G10648679A	JAG1	NM_000214.3(JAG1):c.1439C>T:p.Ala480Val	coding	Benign/Likely_benign
20	10648724	T	C	T10648724C	JAG1	NM_000214.3(JAG1):c.1396-2A>G	noncoding	Pathogenic
20	10649058	T	C	T10649058C	JAG1	NM_000214.3(JAG1):c.1395+3A>G	noncoding	Pathogenic
20	10649081	G	A	G10649081A	JAG1	NM_000214.3(JAG1):c.1375C>T:p.Gln459Ter	coding	Pathogenic
20	10649118	A	C	A10649118C	JAG1	NM_000214.3(JAG1):c.1349-11T>G	noncoding	Benign
20	10649544	C	T	C10649544T	JAG1	NM_000214.3(JAG1):c.1326G>A:p.Trp442Ter	coding	Pathogenic
20	10649545	C	T	C10649545T	JAG1	NM_000214.3(JAG1):c.1325G>A:p.Trp442Ter	coding	Pathogenic
20	10650249	A	T	A10650249T	JAG1	NM_000214.3(JAG1):c.1232T>A:p.Leu411Ter	coding	Pathogenic
20	10650274	G	A	G10650274A	JAG1	NM_000214.3(JAG1):c.1207C>T:p.Gln403Ter	coding	Pathogenic
20	10651571	T	C	T10651571C	JAG1	NM_000214.3(JAG1):c.1120+10A>G	noncoding	Benign/Likely_benign
20	10651644	C	A	C10651644A	JAG1	NM_000214.3(JAG1):c.1057G>T:p.Glu353Ter	coding	Pathogenic
20	10651686	C	A	C10651686A	JAG1	NM_000214.3(JAG1):c.1015G>T:p.Ala339Ser	coding	Benign
20	10651710	T	C	T10651710C	JAG1	NM_000214.3(JAG1):c.1007-16A>G	noncoding	Benign
20	10652151	G	T	G10652151T	JAG1	NM_000214.3(JAG1):c.986C>A:p.Ser329Ter	coding	Pathogenic
20	10652213	G	A	G10652213A	JAG1	NM_000214.3(JAG1):c.924C>T:p.Asn308=	coding	Benign
20	10652227	G	A	G10652227A	JAG1	NM_000214.3(JAG1):c.910C>T:p.Gln304Ter	coding	Pathogenic
20	10652228	A	G	A10652228G	JAG1	NM_000214.3(JAG1):c.909T>C:p.His303=	coding	Benign/Likely_benign
20	10652243	A	G	A10652243G	JAG1	NM_000214.3(JAG1):c.894T>C:p.Asn298=	coding	Benign/Likely_benign
20	10652467	C	T	C10652467T	JAG1	NM_000214.3(JAG1):c.886+1G>A	noncoding	Pathogenic
20	10652483	G	A	G10652483A	JAG1	NM_000214.3(JAG1):c.871C>T:p.Gln291Ter	coding	Pathogenic
20	10652491	C	T	C10652491T	JAG1	NM_000214.3(JAG1):c.863G>A:p.Trp288Ter	coding	Pathogenic
20	10652513	G	A	G10652513A	JAG1	NM_000214.3(JAG1):c.841C>T:p.Gln281Ter	coding	Pathogenic
20	10652589	G	A	G10652589A	JAG1	NM_000214.3(JAG1):c.765C>T:p.Tyr255=	coding	Benign
20	10652589	G	C	G10652589C	JAG1	NM_000214.3(JAG1):c.765C>G:p.Tyr255Ter	coding	Pathogenic
20	10652599	C	A	C10652599A	JAG1	NM_000214.3(JAG1):c.756-1G>T	coding	Pathogenic
20	10656383	G	A	G10656383A	JAG1	NM_000214.3(JAG1):c.755+15C>T	noncoding	Benign
20	10656409	T	C	T10656409C	JAG1	NM_000214.3(JAG1):c.744A>G:p.Pro248=	coding	Benign
20	10656450	G	A	G10656450A	JAG1	NM_000214.3(JAG1):c.703C>T:p.Arg235Ter	coding	Pathogenic
20	10658467	C	A	C10658467A	JAG1	NM_000214.3(JAG1):c.694+1G>T	noncoding	Pathogenic
20	10658467	C	T	C10658467T	JAG1	NM_000214.3(JAG1):c.694+1G>A	noncoding	Pathogenic
20	10658574	G	A	G10658574A	JAG1	NM_000214.3(JAG1):c.588C>T:p.Cys196=	coding	Benign
20	10658611	C	T	C10658611T	JAG1	NM_000214.3(JAG1):c.551G>A:p.Arg184His	coding	Pathogenic
20	10658612	G	A	G10658612A	JAG1	NM_000214.3(JAG1):c.550C>T:p.Arg184Cys	coding	Pathogenic
20	10658618	G	A	G10658618A	JAG1	NM_000214.3(JAG1):c.544C>T:p.Gln182Ter	coding	Pathogenic
20	10658619	A	T	A10658619T	JAG1	NM_000214.3(JAG1):c.543T>A:p.Tyr181Ter	coding	Pathogenic
20	10658636	C	T	C10658636T	JAG1	NM_000214.3(JAG1):c.526G>A:p.Val176Ile	coding	Benign/Likely_benign
20	10658662	C	T	C10658662T	JAG1	NM_000214.3(JAG1):c.500G>A:p.Trp167Ter	coding	Pathogenic
20	10658737	A	G	A10658737G	JAG1	NM_000214.3(JAG1):c.440-15T>C	noncoding	Benign
20	10663953	C	T	C10663953T	JAG1	NM_000214.3(JAG1):c.439+10G>A	noncoding	Benign/Likely_benign
20	10663962	C	T	C10663962T	JAG1	NM_000214.3(JAG1):c.439+1G>A	noncoding	Pathogenic
20	10663963	G	A	G10663963A	JAG1	NM_000214.3(JAG1):c.439C>T:p.Gln147Ter	coding	Pathogenic
20	10663966	C	T	C10663966T	JAG1	NM_000214.3(JAG1):c.436G>A:p.Val146Ile	coding	Benign
20	10664016	T	G	T10664016G	JAG1	NM_000214.3(JAG1):c.388-2A>C	noncoding	Pathogenic
20	10664018	C	G	C10664018G	JAG1	NM_000214.3(JAG1):c.388-4G>C	noncoding	Benign/Likely_benign
20	10664057	G	A	G10664057A	JAG1	NM_000214.3(JAG1):c.388-43C>T	noncoding	Benign
20	10672699	A	G	A10672699G	JAG1	NM_000214.3(JAG1):c.387+2T>C	noncoding	Pathogenic
20	10672794	G	A	G10672794A	JAG1	NM_000214.3(JAG1):c.294C>T:p.Ser98=	coding	Benign/Likely_benign
20	10672806	G	A	G10672806A	JAG1	NM_000214.3(JAG1):c.282C>T:p.Phe94=	coding	Benign
20	10672818	C	A	C10672818A	JAG1	NM_000214.3(JAG1):c.270G>T:p.Gly90=	coding	Benign/Likely_benign
20	10672821	C	T	C10672821T	JAG1	NM_000214.3(JAG1):c.267G>A:p.Gly89=	coding	Benign
20	10672850	T	A	T10672850A	JAG1	NM_000214.3(JAG1):c.238A>T:p.Lys80Ter	coding	Pathogenic
20	10672855	C	G	C10672855G	JAG1	NM_000214.3(JAG1):c.233G>C:p.Cys78Ser	coding	Pathogenic
20	10672856	A	C	A10672856C	JAG1	NM_000214.3(JAG1):c.232T>G:p.Cys78Gly	coding	Pathogenic
20	10672856	A	G	A10672856G	JAG1	NM_000214.3(JAG1):c.232T>C:p.Cys78Arg	coding	Pathogenic
20	10672940	G	A	G10672940A	JAG1	NM_000214.3(JAG1):c.148C>T:p.Gln50Ter	coding	Pathogenic
20	10672946	C	A	C10672946A	JAG1	NM_000214.3(JAG1):c.142G>T:p.Glu48Ter	coding	Pathogenic
20	10672955	C	A	C10672955A	JAG1	NM_000214.3(JAG1):c.133G>T:p.Val45Leu	coding	Benign/Likely_benign
20	10672978	A	G	A10672978G	JAG1	NM_000214.3(JAG1):c.110T>C:p.Leu37Ser	coding	Pathogenic
20	10672988	G	A	G10672988A	JAG1	NM_000214.3(JAG1):c.100C>T:p.Gln34Ter	coding	Pathogenic
20	10673008	T	C	T10673008C	JAG1	NM_000214.3(JAG1):c.82-2A>G	noncoding	Pathogenic
20	10673449	C	T	C10673449T	JAG1	NM_000214.3(JAG1):c.81+1G>A	noncoding	Pathogenic
20	10673528	C	T	C10673528T	JAG1	NM_000214.3(JAG1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
20	10673572	C	A	C10673572A	JAG1	NM_000214.3(JAG1):c.-42G>T	noncoding	Benign
20	10673915	A	C	A10673915C	JAG1	NM_000214.3(JAG1):c.-385T>G	noncoding	Benign
20	10673963	C	T	C10673963T	JAG1	NM_000214.3(JAG1):c.-433G>A	noncoding	Benign
20	10673988	G	A	G10673988A	JAG1	NM_000214.3(JAG1):c.-458C>T	noncoding	Benign
20	13534116	G	A	G13534116A	TASP1	NM_017714.3(TASP1):c.701C>T:p.Thr234Met	coding	Pathogenic
20	13625199	G	A	G13625199A	TASP1	NM_017714.3(TASP1):c.199C>T:p.Arg67Ter	coding	Pathogenic
20	13784861	C	T	C13784861T	NDUFAF5	NM_016649.4(ESF1):c.-83G>A	noncoding	Benign
20	13785298	C	G	C13785298G	NDUFAF5	NM_024120.5(NDUFAF5):c.222+8C>G	noncoding	Benign
20	13785308	C	T	C13785308T	NDUFAF5	NM_024120.5(NDUFAF5):c.222+18C>T	noncoding	Benign
20	13787360	G	A	G13787360A	NDUFAF5	NM_024120.5(NDUFAF5):c.263+8G>A	noncoding	Benign
20	13787433	T	G	T13787433G	NDUFAF5	NM_024120.5(NDUFAF5):c.263+81T>G	noncoding	Benign
20	13788416	T	C	T13788416C	NDUFAF5	NM_024120.5(NDUFAF5):c.264-173T>C	noncoding	Benign
20	13792926	C	G	C13792926G	NDUFAF5	NM_024120.5(NDUFAF5):c.328-254C>G	noncoding	Benign
20	13794911	A	G	A13794911G	NDUFAF5	NM_024120.5(NDUFAF5):c.449A>G:p.Asn150Ser	coding	Benign/Likely_benign
20	13794912	T	C	T13794912C	NDUFAF5	NM_024120.5(NDUFAF5):c.450T>C:p.Asn150=	coding	Benign/Likely_benign
20	13794939	A	C	A13794939C	NDUFAF5	NM_024120.5(NDUFAF5):c.477A>C:p.Leu159Phe	coding	Pathogenic
20	13798232	C	G	C13798232G	NDUFAF5	NM_024120.5(NDUFAF5):c.480-229C>G	noncoding	Benign
20	13798467	T	C	T13798467C	NDUFAF5	NM_024120.5(NDUFAF5):c.486T>C:p.His162=	coding	Benign
20	13801497	T	C	T13801497C	NDUFAF5	NM_024120.5(NDUFAF5):c.531T>C:p.Ile177=	coding	Benign
20	13801548	C	T	C13801548T	NDUFAF5	NM_024120.5(NDUFAF5):c.582C>T:p.Leu194=	coding	Benign
20	13801584	G	A	G13801584A	NDUFAF5	NM_024120.5(NDUFAF5):c.618G>A:p.Thr206=	coding	Benign/Likely_benign
20	13801652	T	C	T13801652C	NDUFAF5	NM_024120.5(NDUFAF5):c.686T>C:p.Leu229Pro	coding	Pathogenic
20	13808601	A	G	A13808601G	NDUFAF5	NM_024120.5(NDUFAF5):c.718-241A>G	noncoding	Benign
20	13808873	G	T	G13808873T	NDUFAF5	NM_024120.5(NDUFAF5):c.749G>T:p.Gly250Val	coding	Pathogenic/Likely_pathogenic
20	13816254	T	C	T13816254C	NDUFAF5	NM_024120.5(NDUFAF5):c.779-209T>C	noncoding	Benign
20	13816446	C	A	C13816446A	NDUFAF5	NM_024120.5(NDUFAF5):c.779-17C>A	noncoding	Benign
20	13816533	G	A	G13816533A	NDUFAF5	NM_024120.5(NDUFAF5):c.849G>A:p.Ala283=	coding	Benign
20	13817201	A	G	A13817201G	NDUFAF5	NM_024120.5(NDUFAF5):c.1029A>G:p.Lys343=	coding	Benign
20	14326184	A	G	A14326184G	FLRT3	NM_198391.3(FLRT3):c.1323T>C:p.Leu441=	coding	Benign
20	14326403	A	G	A14326403G	FLRT3	NM_198391.3(FLRT3):c.1104T>C:p.Thr368=	coding	Benign
20	14326491	T	C	T14326491C	FLRT3	NM_198391.3(FLRT3):c.1016A>G:p.Lys339Arg	coding	Pathogenic
20	14326676	A	G	A14326676G	FLRT3	NM_198391.3(FLRT3):c.831T>C:p.Asp277=	coding	Benign
20	14326742	T	C	T14326742C	FLRT3	NM_198391.3(FLRT3):c.765A>G:p.Gln255=	coding	Benign
20	14326916	A	C	A14326916C	FLRT3	NM_198391.3(FLRT3):c.591T>G:p.Gly197=	coding	Benign
20	16041210	A	T	A16041210T	MACROD2	NM_080676.6(MACROD2):c.1163A>T:p.Glu388Val	coding	Benign
20	16371699	C	T	C16371699T	KIF16B	NM_024704.5(KIF16B):c.3413G>A:p.Ser1138Asn	coding	Benign
20	16378937	T	C	T16378937C	KIF16B	NM_024704.5(KIF16B):c.3065A>G:p.His1022Arg	coding	Benign
20	16427129	G	A	G16427129A	KIF16B	NM_024704.5(KIF16B):c.1587C>T:p.Ile529=	coding	Benign
20	16511518	T	C	T16511518C	KIF16B	NM_024704.5(KIF16B):c.456A>G:p.Glu152=	coding	Benign
20	16748403	T	C	T16748403C	OTOR	NM_020157.3(OTOR):c.2T>C:p.Met1Thr	coding	Benign
20	17481830	G	A	G17481830A	PCSK2	NM_002594.5(PCSK2):c.1677G>A:p.Thr559=	coding	Benign
20	17494104	G	T	G17494104T	BFSP1	NM_001195.5(BFSP1):c.1968C>A:p.Asp656Glu	coding	Benign
20	17494146	G	A	G17494146A	BFSP1	NM_001195.5(BFSP1):c.1926C>T:p.Thr642=	coding	Benign
20	17494323	T	C	T17494323C	BFSP1	NM_001195.5(BFSP1):c.1749A>G:p.Pro583=	coding	Benign
20	17494572	C	T	C17494572T	BFSP1	NM_001195.5(BFSP1):c.1500G>A:p.Ala500=	coding	Benign
20	17494924	T	C	T17494924C	BFSP1	NM_001195.5(BFSP1):c.1148A>G:p.Asn383Ser	coding	Benign
20	17494947	C	A	C17494947A	BFSP1	NM_001195.5(BFSP1):c.1125G>T:p.Glu375Asp	coding	Benign
20	17496935	T	C	T17496935C	BFSP1	NM_001195.5(BFSP1):c.1042+3A>G	noncoding	Pathogenic
20	17496938	C	T	C17496938T	BFSP1	NM_001195.5(BFSP1):c.1042G>A:p.Asp348Asn	coding	Pathogenic
20	17496947	C	T	C17496947T	BFSP1	NM_001195.5(BFSP1):c.1033G>A:p.Gly345Ser	coding	Benign
20	17498878	G	A	G17498878A	BFSP1	NM_001195.5(BFSP1):c.898C>T:p.Gln300Ter	coding	Pathogenic
20	17498889	G	A	G17498889A	BFSP1	NM_001195.5(BFSP1):c.887C>T:p.Ala296Val	coding	Benign
20	17498972	G	A	G17498972A	BFSP1	NM_001195.5(BFSP1):c.804C>T:p.Asn268=	coding	Benign
20	17499014	T	C	T17499014C	BFSP1	NM_001195.5(BFSP1):c.762A>G:p.Lys254=	coding	Benign
20	17508949	C	T	C17508949T	BFSP1	NM_001195.5(BFSP1):c.675G>A:p.Leu225=	coding	Benign
20	17531193	C	G	C17531193G	BFSP1	NM_001195.5(BFSP1):c.137G>C:p.Gly46Ala	coding	Benign
20	17531284	C	G	C17531284G	BFSP1	NM_001195.5(BFSP1):c.46G>C:p.Glu16Gln	coding	Benign
20	17614825	C	T	C17614825T	RRBP1	NM_001365613.2(RRBP1):c.4106G>A:p.Arg1369Lys	coding	Benign
20	17615941	C	T	C17615941T	RRBP1	NM_001365613.2(RRBP1):c.3936G>A:p.Thr1312=	coding	Benign
20	17616724	G	A	G17616724A	RRBP1	NM_001365613.2(RRBP1):c.3867+8C>T	noncoding	Benign
20	17616737	C	T	C17616737T	RRBP1	NM_001365613.2(RRBP1):c.3862G>A:p.Val1288Ile	coding	Benign
20	17620347	G	A	G17620347A	RRBP1	NM_001365613.2(RRBP1):c.3531C>T:p.Leu1177=	coding	Benign
20	17621458	C	T	C17621458T	RRBP1	NM_001365613.2(RRBP1):c.3414G>A:p.Thr1138=	coding	Benign
20	17621719	G	A	G17621719A	RRBP1	NM_001365613.2(RRBP1):c.3295C>T:p.His1099Tyr	coding	Benign
20	17625575	C	T	C17625575T	RRBP1	NM_001365613.2(RRBP1):c.2991G>A:p.Ser997=	coding	Benign
20	17627494	G	A	G17627494A	RRBP1	NM_001365613.2(RRBP1):c.2928+10C>T	noncoding	Benign
20	17629867	C	T	C17629867T	RRBP1	NM_001365613.2(RRBP1):c.2705G>A:p.Arg902Gln	coding	Benign
20	17641850	T	C	T17641850C	RRBP1	NM_001365613.2(RRBP1):c.2131A>G:p.Thr711Ala	coding	Benign
20	17641917	G	A	G17641917A	RRBP1	NM_001365613.2(RRBP1):c.2064C>T:p.Ala688=	coding	Benign
20	17660156	C	T	C17660156T	RRBP1	NM_001365613.2(RRBP1):c.352G>A:p.Val118Ile	coding	Benign
20	17969902	A	T	A17969902T	MGME1	NM_052865.4(MGME1):c.43A>T:p.Ser15Cys	coding	Benign
20	17969945	C	G	C17969945G	MGME1	NM_052865.4(MGME1):c.86C>G:p.Ser29Cys	coding	Benign/Likely_benign
20	17970129	A	G	A17970129G	MGME1	NM_052865.4(MGME1):c.270A>G:p.Gln90=	coding	Benign
20	17970315	G	A	G17970315A	MGME1	NM_052865.4(MGME1):c.456G>A:p.Trp152Ter	coding	Pathogenic
20	17975678	T	C	T17975678C	MGME1	NM_052865.4(MGME1):c.512-6T>C	noncoding	Benign/Likely_benign
20	17975870	A	G	A17975870G	MGME1	NM_052865.4(MGME1):c.698A>G:p.Tyr233Cys	coding	Pathogenic
20	17987905	G	A	G17987905A	MGME1	NM_052865.4(MGME1):c.732-261G>A	noncoding	Benign
20	17988280	T	C	T17988280C	MGME1	NM_052865.4(MGME1):c.846T>C:p.Asp282=	coding	Benign
20	17989944	A	G	A17989944G	MGME1	NM_052865.4(MGME1):c.870A>G:p.Gln290=	coding	Benign/Likely_benign
20	17989975	G	A	G17989975A	MGME1	NM_052865.4(MGME1):c.901G>A:p.Gly301Arg	coding	Benign
20	18024780	G	T	G18024780T	OVOL2	NM_021220.4(OVOL2):c.684C>A:p.Asp228Glu	coding	Benign
20	18057908	A	C	A18057908C	OVOL2	NM_021220.4(OVOL2):c.-274T>G	noncoding	Pathogenic
20	18057941	A	G	A18057941G	OVOL2	NM_001303461.1(OVOL2):c.-297+949T>C	noncoding	Pathogenic
20	18058004	A	G	A18058004G	OVOL2	NM_001303461.1(OVOL2):c.-297+886T>C	noncoding	Pathogenic
20	18142268	C	G	C18142268G	PET117	NM_001164811.2(PET117):c.157C>G:p.Arg53Gly	coding	Benign
20	18142283	C	T	C18142283T	PET117	NM_001164811.2(PET117):c.172C>T:p.Gln58Ter	coding	Pathogenic
20	18316126	C	T	C18316126T	ZNF133	NM_001083330.4(ZNF133):c.1272C>T:p.Leu424=	coding	Benign
20	18316570	G	A	G18316570A	ZNF133	NM_001083330.4(ZNF133):c.1716G>A:p.Ser572=	coding	Benign
20	18507755	C	G	C18507755G	SEC23B	NM_032986.5(SEC23B):c.-15+86C>G	noncoding	Benign
20	18507963	C	T	C18507963T	SEC23B	NM_006363.6(SEC23B):c.-24C>T	noncoding	Benign
20	18510875	C	T	C18510875T	SEC23B	NM_006363.6(SEC23B):c.40C>T:p.Arg14Trp	coding	Pathogenic
20	18510901	C	T	C18510901T	SEC23B	NM_006363.6(SEC23B):c.66C>T:p.Asn22=	coding	Benign
20	18515695	G	A	G18515695A	SEC23B	NM_006363.6(SEC23B):c.325G>A:p.Glu109Lys	coding	Pathogenic
20	18524556	G	T	G18524556T	SEC23B	NM_006363.6(SEC23B):c.490G>T:p.Val164Leu	coding	Benign
20	18524980	C	T	C18524980T	SEC23B	NM_006363.6(SEC23B):c.649C>T:p.Arg217Ter	coding	Pathogenic
20	18525021	G	A	G18525021A	SEC23B	NM_006363.6(SEC23B):c.689+1G>A	coding	Pathogenic
20	18525030	C	T	C18525030T	SEC23B	NM_006363.6(SEC23B):c.689+10C>T	noncoding	Benign/Likely_benign
20	18525888	C	T	C18525888T	SEC23B	NM_006363.6(SEC23B):c.790C>T:p.Arg264Ter	coding	Pathogenic
20	18525914	T	C	T18525914C	SEC23B	NM_006363.6(SEC23B):c.816T>C:p.Ile272=	coding	Benign
20	18526366	A	G	A18526366G	SEC23B	NM_006363.6(SEC23B):c.835-7A>G	noncoding	Benign/Likely_benign
20	18526508	C	T	C18526508T	SEC23B	NM_006363.6(SEC23B):c.970C>T:p.Arg324Ter	coding	Pathogenic/Likely_pathogenic
20	18526541	C	G	C18526541G	SEC23B	NM_006363.6(SEC23B):c.993+10C>G	noncoding	Benign
20	18526550	G	A	G18526550A	SEC23B	NM_006363.6(SEC23B):c.993+19G>A	noncoding	Benign
20	18530812	A	G	A18530812G	SEC23B	NM_006363.6(SEC23B):c.1233+9A>G	noncoding	Benign
20	18532706	G	A	G18532706A	SEC23B	NM_006363.6(SEC23B):c.1276G>A:p.Val426Ile	coding	Benign/Likely_benign
20	18532728	C	T	C18532728T	SEC23B	NM_006363.6(SEC23B):c.1298C>T:p.Pro433Leu	coding	Benign
20	18542289	C	T	C18542289T	SEC23B	NM_006363.6(SEC23B):c.1405-7C>T	noncoding	Benign
20	18542358	C	G	C18542358G	SEC23B	NM_006363.6(SEC23B):c.1467C>G:p.His489Gln	coding	Benign
20	18542375	G	A	G18542375A	SEC23B	NM_006363.6(SEC23B):c.1484G>A:p.Arg495His	coding	Benign
20	18542380	C	T	C18542380T	SEC23B	NM_006363.6(SEC23B):c.1489C>T:p.Arg497Cys	coding	Pathogenic
20	18542394	C	T	C18542394T	SEC23B	NM_006363.6(SEC23B):c.1503C>T:p.Ile501=	coding	Benign
20	18542398	C	T	C18542398T	SEC23B	NM_006363.6(SEC23B):c.1507C>T:p.Arg503Ter	coding	Pathogenic
20	18543019	T	C	T18543019C	SEC23B	NM_006363.6(SEC23B):c.1512T>C:p.Asn504=	coding	Benign/Likely_benign
20	18543078	C	T	C18543078T	SEC23B	NM_006363.6(SEC23B):c.1571C>T:p.Ala524Val	coding	Pathogenic
20	18543095	C	T	C18543095T	SEC23B	NM_006363.6(SEC23B):c.1588C>T:p.Arg530Trp	coding	Pathogenic
20	18543155	C	T	C18543155T	SEC23B	NM_006363.6(SEC23B):c.1648C>T:p.Arg550Ter	coding	Pathogenic
20	18543156	G	A	G18543156A	SEC23B	NM_006363.6(SEC23B):c.1649G>A:p.Arg550Gln	coding	Benign/Likely_benign
20	18546201	A	G	A18546201G	SEC23B	NM_006363.6(SEC23B):c.1743+168A>G	noncoding	Benign
20	18548589	T	A	T18548589A	SEC23B	NM_006363.6(SEC23B):c.1744-20T>A	noncoding	Benign
20	18548646	T	G	T18548646G	SEC23B	NM_006363.6(SEC23B):c.1781T>G:p.Val594Gly	coding	Pathogenic
20	18554303	G	T	G18554303T	SEC23B	NM_006363.6(SEC23B):c.2061G>T:p.Leu687=	coding	Benign
20	18560734	C	T	C18560734T	SEC23B	NM_006363.6(SEC23B):c.2298C>T:p.Ala766=	coding	Benign
20	18561397	A	G	A18561397G	SEC23B	NM_006363.6(SEC23B):c.*657A>G	noncoding	Benign
20	19698680	C	T	C19698680T	SLC24A3	NM_020689.4(SLC24A3):c.1719C>T:p.Tyr573=	coding	Benign
20	19886282	G	A	G19886282A	RIN2	NM_018993.3(RIN2):c.-3320G>A	noncoding	Benign
20	19886398	C	T	C19886398T	RIN2	NM_018993.3(RIN2):c.-3204C>T	noncoding	Benign
20	19886762	C	A	C19886762A	RIN2	NM_001242581.1(RIN2):c.93C>A:p.Phe31Leu	coding	Benign
20	19889591	C	T	C19889591T	RIN2	NM_018993.3(RIN2):c.-11C>T	coding	Benign
20	19935034	C	G	C19935034G	RIN2	NM_018993.3(RIN2):c.58-65C>G	noncoding	Benign
20	19935119	G	A	G19935119A	RIN2	NM_001242581.1(RIN2):c.225G>A:p.Ser75=	coding	Benign
20	19935126	G	A	G19935126A	RIN2	NM_018993.3(RIN2):c.85G>A:p.Gly29Arg	coding	Benign
20	19956668	G	A	G19956668A	RIN2	NM_018993.3(RIN2):c.212G>A:p.Cys71Tyr	coding	Benign
20	19956803	C	T	C19956803T	RIN2	NM_018993.3(RIN2):c.347C>T:p.Pro116Leu	coding	Benign/Likely_benign
20	19960387	G	A	G19960387A	RIN2	NM_018993.3(RIN2):c.352-313G>A	noncoding	Benign
20	19960713	A	G	A19960713G	RIN2	NM_001242581.1(RIN2):c.512A>G:p.His171Arg	coding	Benign
20	19960723	C	T	C19960723T	RIN2	NM_018993.3(RIN2):c.375C>T:p.Thr125=	coding	Benign
20	19970890	T	A	T19970890A	RIN2	NM_018993.3(RIN2):c.589T>A:p.Ser197Thr	coding	Benign
20	19970905	G	A	G19970905A	RIN2	NM_001242581.1(RIN2):c.751G>A:p.Glu251Lys	coding	Benign
20	19970936	G	A	G19970936A	RIN2	NM_018993.3(RIN2):c.628+7G>A	noncoding	Benign/Likely_benign
20	19971218	C	T	C19971218T	RIN2	NM_018993.3(RIN2):c.628+289C>T	noncoding	Benign
20	19974646	A	C	A19974646C	RIN2	NM_018993.3(RIN2):c.629-8A>C	noncoding	Benign/Likely_benign
20	19974990	G	A	G19974990A	RIN2	NM_018993.3(RIN2):c.965G>A:p.Ser322Asn	coding	Benign/Likely_benign
20	19975069	G	C	G19975069C	RIN2	NM_018993.3(RIN2):c.1044G>C:p.Leu348=	coding	Benign
20	19975264	G	T	G19975264T	RIN2	NM_018993.3(RIN2):c.1239G>T:p.Pro413=	coding	Benign/Likely_benign
20	19975363	G	C	G19975363C	RIN2	NM_018993.3(RIN2):c.1338G>C:p.Arg446=	coding	Benign/Likely_benign
20	19975450	C	A	C19975450A	RIN2	NM_018993.3(RIN2):c.1425C>A:p.Pro475=	coding	Benign/Likely_benign
20	19975582	C	T	C19975582T	RIN2	NM_001242581.1(RIN2):c.1704C>T:p.Ala568=	coding	Benign
20	19975667	G	A	G19975667A	RIN2	NM_018993.3(RIN2):c.1642G>A:p.Val548Met	coding	Benign/Likely_benign
20	19975954	G	A	G19975954A	RIN2	NM_018993.3(RIN2):c.1762+167G>A	noncoding	Benign
20	19990061	C	T	C19990061T	RIN2	NM_018993.3(RIN2):c.1818C>T:p.His606=	coding	Benign
20	19990094	C	T	C19990094T	RIN2	NM_018993.3(RIN2):c.1851C>T:p.Ala617=	coding	Benign/Likely_benign
20	19990160	G	A	G19990160A	RIN2	NM_018993.3(RIN2):c.1917G>A:p.Leu639=	coding	Benign/Likely_benign
20	19990170	G	A	G19990170A	RIN2	NM_018993.3(RIN2):c.1927G>A:p.Ala643Thr	coding	Benign/Likely_benign
20	19990244	G	A	G19990244A	RIN2	NM_018993.3(RIN2):c.2001G>A:p.Pro667=	coding	Benign
20	19992160	G	A	G19992160A	RIN2	NM_018993.3(RIN2):c.2069-8G>A	noncoding	Benign/Likely_benign
20	19996698	C	T	C19996698T	RIN2	NM_001242581.1(RIN2):c.2367C>T:p.Ser789=	coding	Benign
20	20000666	C	A	C20000666A	RIN2	NM_018993.3(RIN2):c.2418C>A:p.Thr806=	coding	Benign/Likely_benign
20	20000819	G	A	G20000819A	RIN2	NM_018993.3(RIN2):c.2571G>A:p.Lys857=	coding	Benign/Likely_benign
20	20368447	G	A	G20368447A	INSM1	NM_002196.3(INSM1):c.180G>A:p.Glu60=	coding	Benign
20	20495165	G	A	G20495165A	RALGAPA2	NM_020343.4(RALGAPA2):c.5319C>T:p.Tyr1773=	coding	Benign
20	20640817	G	A	G20640817A	RALGAPA2	NM_020343.4(RALGAPA2):c.434C>T:p.Ala145Val	coding	Benign
20	21126163	C	T	C21126163T	KIZ	NM_018474.6(KIZ):c.48C>T:p.Tyr16=	coding	Benign
20	21126167	G	T	G21126167T	KIZ	NM_018474.6(KIZ):c.52G>T:p.Glu18Ter	coding	Pathogenic
20	21145597	A	G	A21145597G	KIZ	NM_018474.6(KIZ):c.348A>G:p.Leu116=	coding	Benign
20	21161974	T	G	T21161974G	KIZ	NM_018474.6(KIZ):c.509T>G:p.Met170Arg	coding	Benign
20	21162163	G	A	G21162163A	KIZ	NM_018474.6(KIZ):c.698G>A:p.Gly233Asp	coding	Benign
20	21162394	A	T	A21162394T	KIZ	NM_018474.6(KIZ):c.929A>T:p.Glu310Val	coding	Benign
20	21214576	C	T	C21214576T	KIZ	NM_018474.6(KIZ):c.1488C>T:p.Gly496=	coding	Benign
20	21232759	C	T	C21232759T	KIZ	NM_018474.6(KIZ):c.1809C>T:p.Phe603=	coding	Benign
20	21232820	C	T	C21232820T	KIZ	NM_018474.6(KIZ):c.1870C>T:p.Pro624Ser	coding	Benign
20	21244291	G	A	G21244291A	KIZ	NM_018474.6(KIZ):c.1924+3G>A	noncoding	Benign
20	21333776	G	A	G21333776A	XRN2	NM_012255.5(XRN2):c.1006G>A:p.Val336Ile	coding	Benign
20	21396277	G	C	G21396277C	NKX2-4	NM_033176.2(NKX2-4):c.699C>G:p.Val233=	coding	Benign
20	21705796	G	C	G21705796C	PAX1	NM_006192.5(PAX1):c.84G>C:p.Ala28=	coding	Benign
20	21706648	G	T	G21706648T	PAX1	NM_006192.5(PAX1):c.497G>T:p.Gly166Val	coding	Pathogenic
20	21709266	C	A	C21709266A	PAX1	NM_006192.5(PAX1):c.1104C>A:p.Cys368Ter	coding	Pathogenic
20	21709363	C	T	C21709363T	PAX1	NM_006192.5(PAX1):c.1201C>T:p.Leu401=	coding	Benign
20	21714556	C	T	C21714556T	PAX1	NM_006192.5(PAX1):c.1358C>T:p.Pro453Leu	coding	Benign
20	21714576	C	A	C21714576A	PAX1	NM_006192.5(PAX1):c.1378C>A:p.Arg460=	coding	Benign
20	21714689	C	G	C21714689G	PAX1	NM_006192.5(PAX1):c.1491C>G:p.Ala497=	coding	Benign
20	21714718	C	T	C21714718T	PAX1	NM_006192.5(PAX1):c.1520C>T:p.Pro507Leu	coding	Benign/Likely_benign
20	21714743	G	C	G21714743C	PAX1	NM_006192.5(PAX1):c.1545G>C:p.Pro515=	coding	Benign
20	22581969	G	T	G22581969T	FOXA2	NM_021784.4(FOXA2):c.1273C>A:p.Pro425Thr	coding	Benign
20	23035534	G	C	G23035534C	SSTR4	NM_001052.3(SSTR4):c.51G>C:p.Thr17=	coding	Benign
20	23036113	C	A	C23036113A	SSTR4	NM_001052.3(SSTR4):c.630C>A:p.Val210=	coding	Benign
20	23036182	C	T	C23036182T	SSTR4	NM_001052.3(SSTR4):c.699C>T:p.Leu233=	coding	Benign
20	23036242	G	A	G23036242A	SSTR4	NM_001052.3(SSTR4):c.759G>A:p.Ser253=	coding	Benign
20	23045634	G	A	G23045634A	THBD	NM_000361.2(THBD):c.*2143C>T	noncoding	Benign
20	23045648	G	T	G23045648T	THBD	NM_000361.2(THBD):c.*2129C>A	noncoding	Benign
20	23045784	A	G	A23045784G	THBD	NM_000361.2(THBD):c.*1993T>C	noncoding	Benign
20	23045859	C	T	C23045859T	THBD	NM_000361.2(THBD):c.*1918G>A	noncoding	Benign
20	23046007	A	G	A23046007G	THBD	NM_000361.2(THBD):c.*1770T>C	noncoding	Benign
20	23046215	C	A	C23046215A	THBD	NM_000361.2(THBD):c.*1562G>T	noncoding	Benign
20	23046506	C	A	C23046506A	THBD	NM_000361.3(THBD):c.*1271G>T	noncoding	Benign
20	23046538	C	T	C23046538T	THBD	NM_000361.2(THBD):c.*1239G>A	noncoding	Benign
20	23046606	G	C	G23046606C	THBD	NM_000361.2(THBD):c.*1171C>G	noncoding	Benign
20	23046776	T	G	T23046776G	THBD	NM_000361.2(THBD):c.*1001A>C	noncoding	Benign
20	23046984	T	C	T23046984C	THBD	NM_000361.2(THBD):c.*793A>G	noncoding	Benign
20	23047018	T	A	T23047018A	THBD	NM_000361.2(THBD):c.*759A>T	noncoding	Benign
20	23047257	G	C	G23047257C	THBD	NM_000361.2(THBD):c.*520C>G	noncoding	Benign
20	23047266	A	C	A23047266C	THBD	NM_000361.3(THBD):c.*511T>G	noncoding	Benign
20	23047280	C	T	C23047280T	THBD	NM_000361.2(THBD):c.*497G>A	noncoding	Benign
20	23047426	T	C	T23047426C	THBD	NM_000361.2(THBD):c.*351A>G	noncoding	Benign
20	23047456	C	A	C23047456A	THBD	NM_000361.2(THBD):c.*321G>T	noncoding	Benign
20	23047500	C	T	C23047500T	THBD	NM_000361.2(THBD):c.*277G>A	noncoding	Benign
20	23047690	A	C	A23047690C	THBD	NM_000361.2(THBD):c.*87T>G	noncoding	Benign
20	23047730	G	A	G23047730A	THBD	NM_000361.2(THBD):c.*47C>T	noncoding	Benign
20	23047736	A	G	A23047736G	THBD	NM_000361.2(THBD):c.*41T>C	noncoding	Benign
20	23047751	G	A	G23047751A	THBD	NM_000361.2(THBD):c.*26C>T	noncoding	Benign
20	23048001	C	G	C23048001G	THBD	NM_000361.3(THBD):c.1504G>C:p.Gly502Arg	coding	Benign
20	23048049	C	A	C23048049A	THBD	NM_000361.2(THBD):c.1456G>T:p.Asp486Tyr	coding	Benign
20	23048087	G	A	G23048087A	THBD	NM_000361.2(THBD):c.1418C>T:p.Ala473Val	coding	Benign
20	23048296	C	A	C23048296A	THBD	NM_000361.2(THBD):c.1209G>T:p.Arg403Ser	coding	Pathogenic
20	23048413	C	T	C23048413T	THBD	NM_000361.2(THBD):c.1092G>A:p.Glu364=	coding	Benign
20	23048476	T	C	T23048476C	THBD	NM_000361.2(THBD):c.1029A>G:p.Thr343=	coding	Benign/Likely_benign
20	23048540	C	A	C23048540A	THBD	NM_000361.3(THBD):c.965G>T:p.Arg322Leu	coding	Benign
20	23048607	G	T	G23048607T	THBD	NM_000361.3(THBD):c.898C>A:p.Pro300Thr	coding	Benign
20	23048962	C	T	C23048962T	THBD	NM_000361.3(THBD):c.543G>A:p.Glu181=	coding	Benign
20	23049158	T	G	T23049158G	THBD	NM_000361.3(THBD):c.347A>C:p.Asn116Thr	coding	Benign
20	23049465	C	T	C23049465T	THBD	NM_000361.2(THBD):c.40G>A:p.Gly14Ser	coding	Benign
20	23049490	C	A	C23049490A	THBD	NM_000361.3(THBD):c.15G>T:p.Leu5=	coding	Benign
20	23049562	C	G	C23049562G	THBD	NM_000361.2(THBD):c.-58G>C	noncoding	Benign
20	23049655	C	A	C23049655A	THBD	NM_000361.2(THBD):c.-151G>T	noncoding	Benign
20	23084634	G	A	G23084634A	CD93	NM_012072.4(CD93):c.1559C>T:p.Ser520Leu	coding	Benign
20	23084715	G	A	G23084715A	CD93	NM_012072.4(CD93):c.1478C>T:p.Thr493Ile	coding	Benign
20	23084849	C	T	C23084849T	CD93	NM_012072.4(CD93):c.1344G>A:p.Gly448=	coding	Benign
20	23084911	C	A	C23084911A	CD93	NM_012072.4(CD93):c.1282G>T:p.Val428Leu	coding	Benign
20	23364952	A	G	A23364952G	GZF1	NM_022482.5(GZF1):c.569A>G:p.Asn190Ser	coding	Benign
20	23365248	G	T	G23365248T	GZF1	NM_022482.5(GZF1):c.865G>T:p.Glu289Ter	coding	Pathogenic
20	23370347	C	A	C23370347A	GZF1	NM_022482.5(GZF1):c.2042C>A:p.Thr681Asn	coding	Benign
20	23421338	T	C	T23421338C	NAPB	NM_001283018.1(NAPB):c.65A>G:p.Lys22Arg	coding	Benign
20	23633940	C	T	C23633940T	CST3	NM_000099.4(CST3):c.417G>A:p.Ser139=	coding	Benign
20	23635330	A	T	A23635330T	CST3	NM_000099.4(CST3):c.281T>A:p.Leu94Gln	coding	Pathogenic
20	23637628	G	T	G23637628T	CST3	NM_000099.4(CST3):c.235C>A:p.Arg79Ser	coding	Benign
20	23637775	C	T	C23637775T	CST3	NM_000099.4(CST3):c.88G>A:p.Gly30Ser	coding	Benign
20	23637934	T	G	T23637934G	CST3	NM_000099.4(CST3):c.-72A>C	noncoding	Benign
20	23685899	C	A	C23685899A	CST4	NM_001899.2(CST4):c.421G>T:p.Ala141Ser	coding	Benign
20	23687142	C	T	C23687142T	CST4	NM_001899.2(CST4):c.288G>A:p.Lys96=	coding	Benign
20	23688851	T	C	T23688851C	CST4	NM_001899.2(CST4):c.119A>G:p.Asn40Ser	coding	Benign
20	23688947	A	T	A23688947T	CST4	NM_001899.2(CST4):c.23T>A:p.Leu8Gln	coding	Benign
20	23688961	C	T	C23688961T	CST4	NM_001899.2(CST4):c.9G>A:p.Arg3=	coding	Benign
20	23826456	G	A	G23826456A	CST2	NM_001322.3(CST2):c.205C>T:p.Arg69Trp	coding	Benign
20	25075516	C	T	C25075516T	VSX1	NM_014588.5(VSX1):c.*745G>A	coding	Benign
20	25075517	G	T	G25075517T	VSX1	NM_014588.5(VSX1):c.*744C>A	coding	Benign
20	25075765	T	C	T25075765C	VSX1	NM_014588.5(VSX1):c.*496A>G	coding	Benign
20	25076061	C	A	C25076061A	VSX1	NM_014588.5(VSX1):c.*200G>T	coding	Benign
20	25076062	C	T	C25076062T	VSX1	NM_014588.5(VSX1):c.*199G>A	coding	Benign
20	25076157	G	A	G25076157A	VSX1	NM_014588.6(VSX1):c.*104C>T	coding	Benign
20	25077727	C	A	C25077727A	VSX1	NM_001256271.1(VSX1):c.627+1102G>T	coding	Pathogenic
20	25077776	C	T	C25077776T	VSX1	NM_014588.6(VSX1):c.717G>A:p.Gly239=	coding	Benign
20	25077869	G	A	G25077869A	VSX1	NM_014588.5(VSX1):c.628-4C>T	noncoding	Benign/Likely_benign
20	25077878	A	G	A25077878G	VSX1	NM_014588.6(VSX1):c.628-13T>C	noncoding	Benign
20	25078844	G	A	G25078844A	VSX1	NM_014588.6(VSX1):c.612C>T:p.Pro204=	coding	Benign
20	25078910	T	C	T25078910C	VSX1	NM_014588.5(VSX1):c.546A>G:p.Ala182=	coding	Benign
20	25078928	C	T	C25078928T	VSX1	NM_014588.5(VSX1):c.528G>A:p.Leu176=	coding	Benign
20	25079442	C	T	C25079442T	VSX1	NM_014588.5(VSX1):c.497G>A:p.Arg166Gln	coding	Benign
20	25079460	C	A	C25079460A	VSX1	NM_014588.5(VSX1):c.479G>T:p.Gly160Val	coding	Benign/Likely_benign
20	25079465	G	C	G25079465C	VSX1	NM_014588.5(VSX1):c.474C>G:p.Thr158=	coding	Benign
20	25079507	G	C	G25079507C	VSX1	NM_014588.5(VSX1):c.432C>G:p.Asp144Glu	coding	Benign
20	25081685	C	T	C25081685T	VSX1	NM_014588.6(VSX1):c.412G>A:p.Val138Ile	coding	Benign
20	25081706	G	T	G25081706T	VSX1	NM_014588.5(VSX1):c.391C>A:p.Arg131Ser	coding	Benign
20	25081758	G	A	G25081758A	VSX1	NM_014588.5(VSX1):c.339C>T:p.Gly113=	coding	Benign
20	25081782	G	T	G25081782T	VSX1	NM_014588.5(VSX1):c.315C>A:p.Asp105Glu	coding	Benign
20	25081923	C	A	C25081923A	VSX1	NM_014588.5(VSX1):c.174G>T:p.Pro58=	coding	Benign
20	25082016	G	A	G25082016A	VSX1	NM_014588.6(VSX1):c.81C>T:p.Arg27=	coding	Benign
20	25082037	G	A	G25082037A	VSX1	NM_014588.5(VSX1):c.60C>T:p.Gly20=	coding	Benign
20	25082079	C	A	C25082079A	VSX1	NM_014588.5(VSX1):c.18G>T:p.Ser6=	coding	Benign
20	25082293	C	T	C25082293T	VSX1	NM_014588.5(VSX1):c.-197G>A	noncoding	Benign
20	25225245	C	T	C25225245T	ENTPD6	NM_001247.5(ENTPD6):c.1284C>T:p.Phe428=	coding	Benign
20	25274603	C	T	C25274603T	PYGB	NM_002862.4(PYGB):c.540C>T:p.Ala180=	coding	Benign
20	25280954	G	A	G25280954A	PYGB	NM_002862.4(PYGB):c.1245G>A:p.Val415=	coding	Benign
20	25294301	G	A	G25294301A	PYGB	NM_002862.4(PYGB):c.2312+9G>A	noncoding	Benign
20	25300304	C	T	C25300304T	ABHD12	NM_001042472.3(ABHD12):c.*541G>A	coding	Benign
20	25300524	C	A	C25300524A	ABHD12	NM_001042472.3(ABHD12):c.*321G>T	coding	Benign
20	25300548	G	C	G25300548C	ABHD12	NM_001042472.3(ABHD12):c.*297C>G	coding	Benign
20	25300697	G	A	G25300697A	ABHD12	NM_001042472.3(ABHD12):c.*148C>T	coding	Benign
20	25300762	C	T	C25300762T	ABHD12	NM_001042472.3(ABHD12):c.*83G>A	coding	Benign
20	25300866	C	T	C25300866T	ABHD12	NM_001042472.3(ABHD12):c.1176G>A:p.Ser392=	coding	Benign/Likely_benign
20	25302260	G	C	G25302260C	ABHD12	NM_001042472.3(ABHD12):c.1116C>G:p.His372Gln	coding	Pathogenic
20	25302308	A	G	A25302308G	ABHD12	NM_001042472.3(ABHD12):c.1068T>C:p.Asp356=	coding	Benign
20	25302322	G	A	G25302322A	ABHD12	NM_001042472.3(ABHD12):c.1054C>T:p.Arg352Ter	coding	Pathogenic
20	25302331	C	T	C25302331T	ABHD12	NM_001042472.3(ABHD12):c.1045G>A:p.Ala349Thr	coding	Benign
20	25306909	G	A	G25306909A	ABHD12	NM_001042472.3(ABHD12):c.874C>T:p.Arg292Ter	coding	Pathogenic/Likely_pathogenic
20	25307996	G	A	G25307996A	ABHD12	NM_001042472.3(ABHD12):c.837C>T:p.Arg279=	coding	Benign
20	25320264	C	T	C25320264T	ABHD12	NM_001042472.3(ABHD12):c.477G>A:p.Trp159Ter	coding	Pathogenic
20	25320294	C	T	C25320294T	ABHD12	NM_001042472.3(ABHD12):c.447G>A:p.Trp149Ter	coding	Pathogenic
20	25320386	G	A	G25320386A	ABHD12	NM_001042472.3(ABHD12):c.423-68C>T	noncoding	Benign
20	25339294	G	C	G25339294C	ABHD12	NM_001042472.3(ABHD12):c.249C>G:p.Tyr83Ter	coding	Pathogenic
20	25339341	C	T	C25339341T	ABHD12	NM_001042472.3(ABHD12):c.202G>A:p.Val68Met	coding	Benign/Likely_benign
20	25339350	G	A	G25339350A	ABHD12	NM_001042472.3(ABHD12):c.193C>T:p.Arg65Ter	coding	Pathogenic
20	25390797	G	A	G25390797A	ABHD12	NM_001042472.3(ABHD12):c.-94C>T	noncoding	Benign
20	25390923	C	T	C25390923T	ABHD12	NM_001042472.2(ABHD12):c.-220G>A	noncoding	Benign
20	25407773	C	G	C25407773G	GINS1	NM_021067.5(GINS1):c.-48C>G	noncoding	Pathogenic
20	31484290	A	G	A31484290G	REM1	NM_014012.6(REM1):c.757A>G:p.Lys253Glu	coding	Benign
20	31639923	G	T	G31639923T	COX4I2	NM_032609.3(COX4I2):c.83-10G>T	noncoding	Benign
20	31639938	G	C	G31639938C	COX4I2	NM_032609.3(COX4I2):c.88G>C:p.Gly30Arg	coding	Benign
20	31644870	G	A	G31644870A	COX4I2	NM_032609.3(COX4I2):c.482G>A:p.Arg161His	coding	Benign
20	31766608	C	T	C31766608T	TPX2	NM_012112.5(TPX2):c.282C>T:p.Ser94=	coding	Benign
20	31771626	A	G	A31771626G	TPX2	NM_012112.5(TPX2):c.552A>G:p.Ala184=	coding	Benign
20	31783825	A	G	A31783825G	TPX2	NM_012112.5(TPX2):c.1317A>G:p.Lys439=	coding	Benign
20	31819410	T	C	T31819410C	MYLK2	NM_033118.3(MYLK2):c.-67T>C	noncoding	Benign
20	31819586	G	A	G31819586A	MYLK2	NM_033118.3(MYLK2):c.6G>A:p.Ala2=	coding	Benign
20	31819896	G	A	G31819896A	MYLK2	NM_033118.3(MYLK2):c.53-230G>A	noncoding	Benign
20	31820175	A	G	A31820175G	MYLK2	NM_033118.4(MYLK2):c.102A>G:p.Lys34=	coding	Benign/Likely_benign
20	31820246	C	A	C31820246A	MYLK2	NM_033118.4(MYLK2):c.173C>A:p.Ala58Asp	coding	Benign/Likely_benign
20	31820339	G	A	G31820339A	MYLK2	NM_033118.4(MYLK2):c.266G>A:p.Gly89Asp	coding	Benign/Likely_benign
20	31820357	C	A	C31820357A	MYLK2	NM_033118.4(MYLK2):c.284C>A:p.Ala95Glu	coding	Benign/Likely_benign
20	31820503	C	G	C31820503G	MYLK2	NM_033118.4(MYLK2):c.430C>G:p.Pro144Ala	coding	Benign/Likely_benign
20	31820632	T	C	T31820632C	MYLK2	NM_033118.3(MYLK2):c.473+86T>C	noncoding	Benign
20	31820777	T	C	T31820777C	MYLK2	NM_033118.3(MYLK2):c.473+231T>C	noncoding	Benign
20	31821473	G	A	G31821473A	MYLK2	NM_033118.4(MYLK2):c.508G>A:p.Glu170Lys	coding	Benign/Likely_benign
20	31821514	C	T	C31821514T	MYLK2	NM_033118.4(MYLK2):c.549C>T:p.His183=	coding	Benign
20	31821592	G	A	G31821592A	MYLK2	NM_033118.3(MYLK2):c.627G>A:p.Glu209=	coding	Benign
20	31821649	T	C	T31821649C	MYLK2	NM_033118.4(MYLK2):c.684T>C:p.Ile228=	coding	Benign
20	31821691	G	A	G31821691A	MYLK2	NM_033118.3(MYLK2):c.726G>A:p.Gln242=	coding	Benign/Likely_benign
20	31823487	G	A	G31823487A	MYLK2	NM_033118.4(MYLK2):c.783G>A:p.Pro261=	coding	Benign/Likely_benign
20	31823490	A	G	A31823490G	MYLK2	NM_033118.4(MYLK2):c.786A>G:p.Pro262=	coding	Benign/Likely_benign
20	31823624	T	C	T31823624C	MYLK2	NM_033118.3(MYLK2):c.878+42T>C	noncoding	Benign
20	31823797	C	T	C31823797T	MYLK2	NM_033118.3(MYLK2):c.878+215C>T	noncoding	Benign
20	31824019	C	T	C31824019T	MYLK2	NM_033118.3(MYLK2):c.879-240C>T	noncoding	Benign
20	31824298	C	T	C31824298T	MYLK2	NM_033118.4(MYLK2):c.918C>T:p.Ala306=	coding	Benign
20	31824366	G	A	G31824366A	MYLK2	NM_033118.4(MYLK2):c.972+14G>A	noncoding	Benign/Likely_benign
20	31826531	G	A	G31826531A	MYLK2	NM_033118.3(MYLK2):c.973-74G>A	noncoding	Benign
20	31826700	C	T	C31826700T	MYLK2	NM_033118.4(MYLK2):c.1068C>T:p.Val356=	coding	Benign
20	31826725	G	A	G31826725A	MYLK2	NM_033118.4(MYLK2):c.1082+11G>A	noncoding	Benign
20	31826757	C	G	C31826757G	MYLK2	NM_033118.3(MYLK2):c.1083-40C>G	noncoding	Benign
20	31826818	C	T	C31826818T	MYLK2	NM_033118.4(MYLK2):c.1104C>T:p.Phe368=	coding	Benign
20	31826890	C	T	C31826890T	MYLK2	NM_033118.4(MYLK2):c.1176C>T:p.Asp392=	coding	Benign/Likely_benign
20	31826946	A	C	A31826946C	MYLK2	NM_033118.4(MYLK2):c.1224+8A>C	noncoding	Benign/Likely_benign
20	31827139	G	A	G31827139A	MYLK2	NM_033118.3(MYLK2):c.1224+201G>A	noncoding	Benign
20	31830893	C	A	C31830893A	MYLK2	NM_033118.4(MYLK2):c.1295+4C>A	noncoding	Benign/Likely_benign
20	31831025	C	T	C31831025T	MYLK2	NM_033118.4(MYLK2):c.1308C>T:p.Asn436=	coding	Benign/Likely_benign
20	31831736	T	C	T31831736C	MYLK2	NM_033118.4(MYLK2):c.1458T>C:p.Asp486=	coding	Benign
20	31832010	G	A	G31832010A	MYLK2	NM_033118.4(MYLK2):c.1584G>A:p.Arg528=	coding	Benign/Likely_benign
20	31832151	A	G	A31832151G	MYLK2	NM_033118.4(MYLK2):c.1710+15A>G	noncoding	Benign
20	31832256	C	T	C31832256T	MYLK2	NM_033118.3(MYLK2):c.1710+120C>T	noncoding	Benign
20	31832381	A	G	A31832381G	MYLK2	NM_033118.3(MYLK2):c.1710+245A>G	noncoding	Benign
20	31833421	T	G	T31833421G	MYLK2	NM_033118.3(MYLK2):c.1711-296T>G	noncoding	Benign
20	31833697	C	G	C31833697G	MYLK2	NM_033118.3(MYLK2):c.1711-20C>G	noncoding	Benign
20	31833711	C	T	C31833711T	MYLK2	NM_033118.4(MYLK2):c.1711-6C>T	noncoding	Benign
20	32208016	T	C	T32208016C	POFUT1	NM_015352.2(POFUT1):c.75T>C:p.Pro25=	coding	Benign
20	32210093	T	C	T32210093C	POFUT1	NM_015352.2(POFUT1):c.147T>C:p.Asp49=	coding	Benign
20	32215311	C	T	C32215311T	POFUT1	NM_015352.2(POFUT1):c.289C>T:p.Gln97Ter	coding	Pathogenic
20	32216609	G	T	G32216609T	POFUT1	NM_015352.2(POFUT1):c.430G>T:p.Glu144Ter	coding	Pathogenic
20	32228308	A	G	A32228308G	POFUT1	NM_015352.2(POFUT1):c.588A>G:p.Pro196=	coding	Benign
20	32230814	C	T	C32230814T	POFUT1	NM_015352.2(POFUT1):c.736-5C>T	noncoding	Benign
20	32230834	A	G	A32230834G	POFUT1	NM_015352.2(POFUT1):c.751A>G:p.Met251Val	coding	Benign
20	32230983	G	A	G32230983A	POFUT1	NM_015352.2(POFUT1):c.900G>A:p.Ser300=	coding	Benign
20	32231020	G	A	G32231020A	POFUT1	NM_015352.2(POFUT1):c.937G>A:p.Glu313Lys	coding	Benign
20	32231047	C	T	C32231047T	POFUT1	NM_015352.2(POFUT1):c.964C>T:p.Leu322Phe	coding	Benign
20	32234652	C	T	C32234652T	POFUT1	NM_015352.2(POFUT1):c.1158C>T:p.Asp386=	coding	Benign
20	32310525	G	C	G32310525C	KIF3B	NM_004798.4(KIF3B):c.748G>C:p.Glu250Gln	coding	Pathogenic
20	32316226	G	A	G32316226A	KIF3B	NM_004798.4(KIF3B):c.1413G>A:p.Glu471=	coding	Benign
20	32316588	T	C	T32316588C	KIF3B	NM_004798.4(KIF3B):c.1568T>C:p.Leu523Pro	coding	Pathogenic
20	32369088	A	T	A32369088T	ASXL1	NM_001164603.1(ASXL1):c.217A>T:p.Lys73Ter	coding	Pathogenic
20	32429406	C	T	C32429406T	ASXL1	NM_015338.6(ASXL1):c.540C>T:p.Asn180=	coding	Benign
20	32429917	C	T	C32429917T	ASXL1	NM_015338.5(ASXL1):c.582C>T:p.His194=	coding	Benign
20	32433315	C	T	C32433315T	ASXL1	NM_015338.5(ASXL1):c.1117C>T:p.Gln373Ter	coding	Pathogenic
20	32433360	G	A	G32433360A	ASXL1	NM_015338.5(ASXL1):c.1162G>A:p.Val388Ile	coding	Benign
20	32433408	C	T	C32433408T	ASXL1	NM_015338.5(ASXL1):c.1210C>T:p.Arg404Ter	coding	Pathogenic
20	32433480	C	T	C32433480T	ASXL1	NM_015338.5(ASXL1):c.1282C>T:p.Gln428Ter	coding	Pathogenic
20	32433555	G	T	G32433555T	ASXL1	NM_015338.6(ASXL1):c.1357G>T:p.Glu453Ter	coding	Pathogenic
20	32433627	G	C	G32433627C	ASXL1	NM_015338.5(ASXL1):c.1429G>C:p.Glu477Gln	coding	Benign
20	32434431	G	A	G32434431A	ASXL1	NM_015338.6(ASXL1):c.1720-1G>A	noncoding	Pathogenic
20	32434474	C	T	C32434474T	ASXL1	NM_015338.5(ASXL1):c.1762C>T:p.Gln588Ter	coding	Pathogenic
20	32434485	C	G	C32434485G	ASXL1	NM_015338.5(ASXL1):c.1773C>G:p.Tyr591Ter	coding	Pathogenic
20	32434543	G	A	G32434543A	ASXL1	NM_015338.6(ASXL1):c.1831G>A:p.Ala611Thr	coding	Benign
20	32434579	C	T	C32434579T	ASXL1	NM_015338.5(ASXL1):c.1867C>T:p.Gln623Ter	coding	Pathogenic
20	32434635	C	T	C32434635T	ASXL1	NM_015338.6(ASXL1):c.1923C>T:p.Ile641=	coding	Benign
20	32434666	G	A	G32434666A	ASXL1	NM_015338.5(ASXL1):c.1954G>A:p.Gly652Ser	coding	Benign
20	32434677	C	T	C32434677T	ASXL1	NM_015338.5(ASXL1):c.1965C>T:p.Thr655=	coding	Benign
20	32434789	C	T	C32434789T	ASXL1	NM_015338.5(ASXL1):c.2077C>T:p.Arg693Ter	coding	Pathogenic
20	32434812	T	A	T32434812A	ASXL1	NM_015338.5(ASXL1):c.2100T>A:p.Tyr700Ter	coding	Pathogenic
20	32434839	C	T	C32434839T	ASXL1	NM_015338.6(ASXL1):c.2127C>T:p.Ala709=	coding	Benign
20	32434909	C	T	C32434909T	ASXL1	NM_015338.5(ASXL1):c.2197C>T:p.Gln733Ter	coding	Pathogenic
20	32434962	C	T	C32434962T	ASXL1	NM_015338.5(ASXL1):c.2250C>T:p.Pro750=	coding	Benign
20	32434963	G	A	G32434963A	ASXL1	NM_015338.5(ASXL1):c.2251G>A:p.Val751Ile	coding	Benign
20	32435049	T	G	T32435049G	ASXL1	NM_015338.5(ASXL1):c.2337T>G:p.Pro779=	coding	Benign
20	32435107	G	T	G32435107T	ASXL1	NM_015338.5(ASXL1):c.2395G>T:p.Asp799Tyr	coding	Benign
20	32435225	A	G	A32435225G	ASXL1	NM_015338.5(ASXL1):c.2513A>G:p.Lys838Arg	coding	Benign
20	32435330	C	T	C32435330T	ASXL1	NM_015338.6(ASXL1):c.2618C>T:p.Pro873Leu	coding	Benign
20	32435383	G	A	G32435383A	ASXL1	NM_015338.6(ASXL1):c.2671G>A:p.Val891Ile	coding	Benign
20	32435423	A	G	A32435423G	ASXL1	NM_015338.6(ASXL1):c.2711A>G:p.Asn904Ser	coding	Benign
20	32435443	C	T	C32435443T	ASXL1	NM_015338.6(ASXL1):c.2731C>T:p.Pro911Ser	coding	Benign
20	32435485	C	T	C32435485T	ASXL1	NM_015338.5(ASXL1):c.2773C>T:p.Gln925Ter	coding	Pathogenic
20	32435502	G	A	G32435502A	ASXL1	NM_015338.5(ASXL1):c.2790G>A:p.Trp930Ter	coding	Pathogenic
20	32435605	C	T	C32435605T	ASXL1	NM_015338.5(ASXL1):c.2893C>T:p.Arg965Ter	coding	Pathogenic
20	32435634	C	A	C32435634A	ASXL1	NM_015338.5(ASXL1):c.2922C>A:p.Tyr974Ter	coding	Pathogenic
20	32435795	C	A	C32435795A	ASXL1	NM_015338.5(ASXL1):c.3083C>A:p.Ser1028Ter	coding	Pathogenic
20	32435823	G	A	G32435823A	ASXL1	NM_015338.5(ASXL1):c.3111G>A:p.Trp1037Ter	coding	Pathogenic
20	32435827	C	T	C32435827T	ASXL1	NM_015338.6(ASXL1):c.3115C>T:p.Gln1039Ter	coding	Pathogenic
20	32435860	A	G	A32435860G	ASXL1	NM_015338.6(ASXL1):c.3148A>G:p.Met1050Val	coding	Benign
20	32435914	C	T	C32435914T	ASXL1	NM_015338.5(ASXL1):c.3202C>T:p.Arg1068Ter	coding	Pathogenic
20	32435985	C	T	C32435985T	ASXL1	NM_015338.6(ASXL1):c.3273C>T:p.Ala1091=	coding	Benign
20	32436096	C	T	C32436096T	ASXL1	NM_015338.6(ASXL1):c.3384C>T:p.Asp1128=	coding	Benign
20	32436210	C	G	C32436210G	ASXL1	NM_015338.5(ASXL1):c.3498C>G:p.Ser1166Arg	coding	Benign/Likely_benign
20	32436225	G	A	G32436225A	ASXL1	NM_015338.5(ASXL1):c.3513G>A:p.Arg1171=	coding	Benign
20	32436231	G	A	G32436231A	ASXL1	NM_015338.5(ASXL1):c.3519G>A:p.Leu1173=	coding	Benign
20	32436404	C	T	C32436404T	ASXL1	NM_015338.5(ASXL1):c.3692C>T:p.Ser1231Phe	coding	Benign
20	32436412	C	T	C32436412T	ASXL1	NM_015338.5(ASXL1):c.3700C>T:p.Gln1234Ter	coding	Pathogenic
20	32436457	A	G	A32436457G	ASXL1	NM_015338.5(ASXL1):c.3745A>G:p.Met1249Val	coding	Benign
20	32436471	T	C	T32436471C	ASXL1	NM_015338.5(ASXL1):c.3759T>C:p.Ser1253=	coding	Benign
20	32436685	C	T	C32436685T	ASXL1	NM_015338.5(ASXL1):c.3973C>T:p.Leu1325Phe	coding	Benign
20	32436760	C	T	C32436760T	ASXL1	NM_015338.6(ASXL1):c.4048C>T:p.Gln1350Ter	coding	Pathogenic
20	32436772	G	T	G32436772T	ASXL1	NM_015338.5(ASXL1):c.4060G>T:p.Glu1354Ter	coding	Pathogenic
20	32436810	C	T	C32436810T	ASXL1	NM_015338.5(ASXL1):c.4098C>T:p.Ser1366=	coding	Benign
20	32436901	G	A	G32436901A	ASXL1	NM_015338.5(ASXL1):c.4189G>A:p.Gly1397Ser	coding	Benign
20	32436910	G	T	G32436910T	ASXL1	NM_015338.5(ASXL1):c.4198G>T:p.Glu1400Ter	coding	Pathogenic
20	32436955	C	T	C32436955T	ASXL1	NM_015338.6(ASXL1):c.4243C>T	coding	Pathogenic
20	32704020	C	T	C32704020T	COMMD7	NM_053041.2(COMMD7):c.526+3G>A	noncoding	Benign
20	32762432	C	T	C32762432T	DNMT3B	NM_006892.4(DNMT3B):c.-274C>T	noncoding	Benign
20	32780142	C	T	C32780142T	DNMT3B	NM_006892.4(DNMT3B):c.-6-176C>T	coding	Benign
20	32780365	C	T	C32780365T	DNMT3B	NM_006892.4(DNMT3B):c.42C>T:p.Ala14=	coding	Benign/Likely_benign
20	32780411	C	T	C32780411T	DNMT3B	NM_006892.4(DNMT3B):c.88C>T:p.Gln30Ter	coding	Pathogenic
20	32781355	C	T	C32781355T	DNMT3B	NM_006892.4(DNMT3B):c.145C>T:p.Arg49Ter	coding	Pathogenic
20	32786531	C	T	C32786531T	DNMT3B	NM_006892.4(DNMT3B):c.336C>T:p.Ser112=	coding	Benign
20	32786544	C	T	C32786544T	DNMT3B	NM_006892.4(DNMT3B):c.349C>T:p.His117Tyr	coding	Benign
20	32788979	G	A	G32788979A	DNMT3B	NM_006892.4(DNMT3B):c.780G>A:p.Trp260Ter	coding	Pathogenic
20	32789007	T	C	T32789007C	DNMT3B	NM_006892.4(DNMT3B):c.808T>C:p.Ser270Pro	coding	Pathogenic
20	32795432	G	A	G32795432A	DNMT3B	NM_006892.4(DNMT3B):c.1150G>A:p.Ala384Thr	coding	Benign
20	32795547	T	G	T32795547G	DNMT3B	NM_006892.4(DNMT3B):c.1252+13T>G	noncoding	Benign
20	32796851	G	A	G32796851A	DNMT3B	NM_006892.4(DNMT3B):c.1359G>A:p.Gly453=	coding	Benign/Likely_benign
20	32797222	C	T	C32797222T	DNMT3B	NM_006892.4(DNMT3B):c.1413C>T:p.Asp471=	coding	Benign
20	32798526	G	A	G32798526A	DNMT3B	NM_006892.4(DNMT3B):c.1557G>A:p.Gln519=	coding	Benign
20	32798541	T	C	T32798541C	DNMT3B	NM_006892.4(DNMT3B):c.1572T>C:p.Cys524=	coding	Benign
20	32798643	T	C	T32798643C	DNMT3B	NM_006892.4(DNMT3B):c.1674T>C:p.Tyr558=	coding	Benign
20	32800145	C	G	C32800145G	DNMT3B	NM_006892.4(DNMT3B):c.1760-8C>G	noncoding	Benign
20	32800148	C	G	C32800148G	DNMT3B	NM_006892.4(DNMT3B):c.1760-5C>G	noncoding	Benign
20	32800200	G	A	G32800200A	DNMT3B	NM_006892.4(DNMT3B):c.1807G>A:p.Ala603Thr	coding	Pathogenic
20	32800271	C	T	C32800271T	DNMT3B	NM_006892.4(DNMT3B):c.1878C>T:p.Asn626=	coding	Benign
20	32800274	C	T	C32800274T	DNMT3B	NM_006892.4(DNMT3B):c.1881C>T:p.Asp627=	coding	Benign
20	32800830	T	C	T32800830C	DNMT3B	NM_006892.4(DNMT3B):c.1906-5T>C	noncoding	Benign
20	32800916	G	A	G32800916A	DNMT3B	NM_006892.4(DNMT3B):c.1987G>A:p.Gly663Ser	coding	Pathogenic
20	32800931	C	T	C32800931T	DNMT3B	NM_006892.4(DNMT3B):c.1996+6C>T	noncoding	Benign
20	32801336	G	A	G32801336A	DNMT3B	NM_006892.4(DNMT3B):c.2055G>A:p.Lys685=	coding	Benign
20	32802416	T	G	T32802416G	DNMT3B	NM_006892.4(DNMT3B):c.2177T>G:p.Val726Gly	coding	Pathogenic
20	32805343	T	G	T32805343G	DNMT3B	NM_006892.4(DNMT3B):c.2237T>G:p.Val746Gly	coding	Pathogenic
20	32807791	A	G	A32807791G	DNMT3B	NM_006892.4(DNMT3B):c.2450A>G:p.Asp817Gly	coding	Pathogenic
20	32807817	C	T	C32807817T	DNMT3B	NM_006892.4(DNMT3B):c.2476C>T:p.Arg826Cys	coding	Pathogenic
20	32807860	G	A	G32807860A	DNMT3B	NM_006892.4(DNMT3B):c.2519G>A:p.Arg840Gln	coding	Pathogenic
20	32807978	C	G	C32807978G	DNMT3B	NM_006892.4(DNMT3B):c.*75C>G	noncoding	Benign
20	32808346	C	T	C32808346T	DNMT3B	NM_006892.4(DNMT3B):c.*443C>T	noncoding	Benign
20	32808730	A	G	A32808730G	DNMT3B	NM_006892.4(DNMT3B):c.*827A>G	noncoding	Benign
20	32808798	T	C	T32808798C	DNMT3B	NM_006892.4(DNMT3B):c.*895T>C	noncoding	Benign
20	32985782	G	C	G32985782C	SUN5	NM_080675.4(SUN5):c.851C>G:p.Ser284Ter	coding	Pathogenic
20	32985809	G	A	G32985809A	SUN5	NM_080675.4(SUN5):c.824C>T:p.Thr275Met	coding	Pathogenic
20	32985852	C	T	C32985852T	SUN5	NM_080675.4(SUN5):c.781G>A:p.Val261Met	coding	Pathogenic
20	32995668	A	T	A32995668T	SUN5	NM_080675.4(SUN5):c.485T>A:p.Met162Lys	coding	Pathogenic
20	33174079	G	T	G33174079T	BPIFA2	NM_080574.4(BPIFA2):c.303G>T:p.Gly101=	coding	Benign
20	33240366	C	A	C33240366A	BPIFA1	NM_130852.3(BPIFA1):c.562C>A:p.Gln188Lys	coding	Benign
20	33286085	G	A	G33286085A	BPIFB1	NM_033197.3(BPIFB1):c.12G>A:p.Pro4=	coding	Benign
20	33288741	A	G	A33288741G	BPIFB1	NM_033197.3(BPIFB1):c.116A>G:p.Lys39Arg	coding	Benign
20	33289964	C	T	C33289964T	BPIFB1	NM_033197.3(BPIFB1):c.337C>T:p.Pro113Ser	coding	Benign
20	33291009	A	G	A33291009G	BPIFB1	NM_033197.3(BPIFB1):c.418A>G:p.Thr140Ala	coding	Benign
20	33408164	C	T	C33408164T	SNTA1	NM_003098.2(SNTA1):c.*343G>A	noncoding	Benign/Likely_benign
20	33408165	G	A	G33408165A	SNTA1	NM_003098.2(SNTA1):c.*342C>T	noncoding	Benign/Likely_benign
20	33408385	C	T	C33408385T	SNTA1	NM_003098.2(SNTA1):c.*122G>A	noncoding	Benign/Likely_benign
20	33408537	G	T	G33408537T	SNTA1	NM_003098.2(SNTA1):c.1488C>A:p.Ala496=	coding	Benign/Likely_benign
20	33408604	A	G	A33408604G	SNTA1	NM_003098.2(SNTA1):c.1426-5T>C	noncoding	Benign/Likely_benign
20	33408649	C	T	C33408649T	SNTA1	NM_003098.2(SNTA1):c.1426-50G>A	noncoding	Benign
20	33408776	G	A	G33408776A	SNTA1	NM_003098.2(SNTA1):c.1350C>T:p.Phe450=	coding	Benign/Likely_benign
20	33408899	G	A	G33408899A	SNTA1	NM_003098.2(SNTA1):c.1238-11C>T	noncoding	Benign
20	33412545	A	G	A33412545G	SNTA1	NM_003098.2(SNTA1):c.909+30T>C	noncoding	Benign
20	33412558	C	A	C33412558A	SNTA1	NM_003098.2(SNTA1):c.909+17G>T	noncoding	Benign
20	33412677	A	G	A33412677G	SNTA1	NM_003098.2(SNTA1):c.807T>C:p.Asn269=	coding	Benign/Likely_benign
20	33417709	C	T	C33417709T	SNTA1	NM_003098.2(SNTA1):c.701+10G>A	noncoding	Benign
20	33417853	T	A	T33417853A	SNTA1	NM_003098.2(SNTA1):c.567A>T:p.Ser189=	coding	Benign
20	33417865	G	A	G33417865A	SNTA1	NM_003098.2(SNTA1):c.555C>T:p.Val185=	coding	Benign/Likely_benign
20	33417930	G	A	G33417930A	SNTA1	NM_003098.2(SNTA1):c.497-7C>T	noncoding	Benign/Likely_benign
20	33438544	C	G	C33438544G	SNTA1	NM_003098.2(SNTA1):c.496+297G>C	noncoding	Benign
20	33439020	C	T	C33439020T	SNTA1	NM_003098.2(SNTA1):c.317G>A:p.Arg106Gln	coding	Benign/Likely_benign
20	33439025	G	A	G33439025A	SNTA1	NM_003098.2(SNTA1):c.312C>T:p.Gly104=	coding	Benign/Likely_benign
20	33439046	G	A	G33439046A	SNTA1	NM_003098.2(SNTA1):c.311-20C>T	noncoding	Benign/Likely_benign
20	33443455	G	A	G33443455A	SNTA1	NM_003098.2(SNTA1):c.166C>T:p.Pro56Ser	coding	Benign
20	33443716	C	T	C33443716T	SNTA1	NM_003098.2(SNTA1):c.-96G>A	noncoding	Benign/Likely_benign
20	33443875	C	G	C33443875G	SNTA1	NM_003098.2(SNTA1):c.-255G>C	noncoding	Benign/Likely_benign
20	33676909	C	T	C33676909T	E2F1	NM_005225.3(E2F1):c.1137G>A:p.Ala379=	coding	Benign
20	33677440	C	T	C33677440T	E2F1	NM_005225.3(E2F1):c.826G>A:p.Val276Met	coding	Benign
20	33686031	C	G	C33686031G	E2F1	NM_005225.3(E2F1):c.234G>C:p.Ala78=	coding	Benign
20	33686118	G	C	G33686118C	E2F1	NM_005225.3(E2F1):c.147C>G:p.Thr49=	coding	Benign
20	33753265	C	T	C33753265T	ZNF341	NM_001282933.2(ZNF341):c.583C>T:p.Gln195Ter	coding	Pathogenic
20	33757310	C	T	C33757310T	ZNF341	NM_001282933.2(ZNF341):c.904C>T:p.Arg302Ter	coding	Pathogenic
20	33761989	C	T	C33761989T	ZNF341	NM_001282933.2(ZNF341):c.1156C>T:p.Arg386Ter	coding	Pathogenic
20	33781315	C	G	C33781315G	ZNF341	NM_001282933.2(ZNF341):c.1647C>G:p.Tyr549Ter	coding	Pathogenic
20	33848462	C	T	C33848462T	CHMP4B	NM_176812.5(CHMP4B):c.191-5C>T	noncoding	Benign
20	33850969	A	T	A33850969T	CHMP4B	NM_176812.5(CHMP4B):c.386A>T:p.Asp129Val	coding	Pathogenic
20	33851063	C	T	C33851063T	CHMP4B	NM_176812.5(CHMP4B):c.480C>T:p.Asp160=	coding	Benign
20	33851064	G	A	G33851064A	CHMP4B	NM_176812.5(CHMP4B):c.481G>A:p.Glu161Lys	coding	Pathogenic
20	33852151	C	T	C33852151T	CHMP4B	NM_176812.5(CHMP4B):c.558C>T:p.Pro186=	coding	Benign
20	33853561	T	C	T33853561C	CHMP4B	NM_176812.5(CHMP4B):c.*1T>C	coding	Benign
20	34075911	G	A	G34075911A	RALY	NM_016732.3(RALY):c.415G>A:p.Val139Met	coding	Benign
20	34097422	G	A	G34097422A	EIF2S2	NM_003908.5(EIF2S2):c.528C>T:p.Tyr176=	coding	Benign
20	34269032	C	A	C34269032A	ASIP	NM_001672.2(ASIP):c.264C>A:p.Pro88=	coding	Benign
20	34280355	T	A	T34280355A	AHCY	NM_000687.4(AHCY):c.*679A>T	noncoding	Benign
20	34280733	A	C	A34280733C	AHCY	NM_000687.4(AHCY):c.*301T>G	noncoding	Benign
20	34285641	G	A	G34285641A	AHCY	NM_000687.4(AHCY):c.973-7C>T	noncoding	Benign
20	34290675	G	C	G34290675C	AHCY	NM_000687.4(AHCY):c.767-37C>G	noncoding	Benign
20	34290753	G	A	G34290753A	AHCY	NM_000687.4(AHCY):c.744C>T:p.Asn248=	coding	Benign/Likely_benign
20	34290834	A	G	A34290834G	AHCY	NM_000687.4(AHCY):c.663T>C:p.Tyr221=	coding	Benign/Likely_benign
20	34292375	T	C	T34292375C	AHCY	NM_000687.4(AHCY):c.428A>G:p.Tyr143Cys	coding	Pathogenic/Likely_pathogenic
20	34292467	C	T	C34292467T	AHCY	NM_000687.4(AHCY):c.336G>A:p.Trp112Ter	coding	Pathogenic
20	34294083	G	A	G34294083A	AHCY	NM_000687.4(AHCY):c.293C>T:p.Pro98Leu	coding	Pathogenic/Likely_pathogenic
20	34295502	G	A	G34295502A	AHCY	NM_000687.4(AHCY):c.112C>T:p.Arg38Trp	coding	Benign/Likely_benign
20	34303236	G	A	G34303236A	AHCY	NM_000687.4(AHCY):c.28+7C>T	noncoding	Benign/Likely_benign
20	34303394	G	T	G34303394T	AHCY	NM_001161766.2(AHCY):c.-56-7809C>A	noncoding	Benign
20	34412518	C	T	C34412518T	ITCH	NM_031483.7(ITCH):c.216C>T:p.Ile72=	coding	Benign
20	34412548	T	C	T34412548C	ITCH	NM_031483.7(ITCH):c.246T>C:p.Arg82=	coding	Benign
20	34445278	C	T	C34445278T	ITCH	NM_031483.7(ITCH):c.966-9C>T	noncoding	Benign
20	34449416	A	G	A34449416G	ITCH	NM_031483.7(ITCH):c.1146A>G:p.Gln382=	coding	Benign
20	34481067	G	T	G34481067T	ITCH	NM_031483.7(ITCH):c.1954G>T:p.Glu652Ter	coding	Pathogenic
20	34489326	A	G	A34489326G	ITCH	NM_031483.7(ITCH):c.2154A>G:p.Glu718=	coding	Benign
20	34489878	C	T	C34489878T	ITCH	NM_031483.7(ITCH):c.2271C>T:p.Ile757=	coding	Benign
20	34575149	G	T	G34575149T	PIGU	NM_080476.4(PIGU):c.1149C>A:p.Asn383Lys	coding	Pathogenic
20	34645321	A	T	A34645321T	PIGU	NM_080476.4(PIGU):c.209T>A:p.Ile70Lys	coding	Pathogenic
20	34740518	C	T	C34740518T	NCOA6	NM_014071.5(NCOA6):c.5738G>A:p.Ser1913Asn	coding	Benign
20	34740616	C	T	C34740616T	NCOA6	NM_014071.5(NCOA6):c.5640G>A:p.Thr1880=	coding	Benign
20	34740691	T	C	T34740691C	NCOA6	NM_014071.5(NCOA6):c.5565A>G:p.Gln1855=	coding	Benign
20	34742677	G	A	G34742677A	NCOA6	NM_014071.5(NCOA6):c.3579C>T:p.His1193=	coding	Benign
20	34742884	C	T	C34742884T	NCOA6	NM_014071.5(NCOA6):c.3372G>A:p.Ser1124=	coding	Benign
20	34743076	G	A	G34743076A	NCOA6	NM_014071.5(NCOA6):c.3180C>T:p.Pro1060=	coding	Benign
20	34743271	T	G	T34743271G	NCOA6	NM_014071.5(NCOA6):c.2985A>C:p.Ala995=	coding	Benign
20	34750311	G	A	G34750311A	NCOA6	NM_014071.5(NCOA6):c.1884C>T:p.Ile628=	coding	Benign
20	34758032	G	C	G34758032C	NCOA6	NM_014071.5(NCOA6):c.716C>G:p.Pro239Arg	coding	Benign
20	34768585	C	T	C34768585T	NCOA6	NM_014071.5(NCOA6):c.393G>A:p.Gly131=	coding	Benign
20	34782202	A	G	A34782202G	NCOA6	NM_014071.5(NCOA6):c.154T>C:p.Phe52Leu	coding	Benign
20	34782311	G	A	G34782311A	NCOA6	NM_014071.5(NCOA6):c.45C>T:p.Ser15=	coding	Benign
20	34876769	C	A	C34876769A	ACSS2	NM_018677.4(ACSS2):c.124C>A:p.Pro42Thr	coding	Benign
20	34919498	T	A	T34919498A	ACSS2	NM_018677.4(ACSS2):c.898T>A:p.Cys300Ser	coding	Benign
20	34921805	T	C	T34921805C	ACSS2	NM_018677.4(ACSS2):c.1487T>C:p.Val496Ala	coding	Pathogenic
20	34926136	A	G	A34926136G	ACSS2	NM_018677.4(ACSS2):c.1758A>G:p.Ser586=	coding	Benign
20	34928738	T	C	T34928738C	GSS	NM_000178.4(GSS):c.*90A>G	noncoding	Benign
20	34928826	C	T	C34928826T	GSS	NM_000178.4(GSS):c.*2G>A	noncoding	Benign
20	34932121	G	A	G34932121A	GSS	NM_000178.4(GSS):c.847C>T:p.Arg283Cys	coding	Pathogenic
20	34935611	G	A	G34935611A	GSS	NM_000178.4(GSS):c.799C>T:p.Arg267Trp	coding	Pathogenic
20	34936821	G	A	G34936821A	GSS	NM_000178.4(GSS):c.709C>T:p.Arg237Ter	coding	Pathogenic/Likely_pathogenic
20	34936976	T	C	T34936976C	GSS	NM_000178.4(GSS):c.656A>G:p.Asp219Gly	coding	Pathogenic
20	34942488	C	T	C34942488T	GSS	NM_000178.4(GSS):c.491G>A:p.Arg164Gln	coding	Pathogenic
20	34942606	G	A	G34942606A	GSS	NM_000178.4(GSS):c.373C>T:p.Arg125Cys	coding	Pathogenic
20	34945933	A	C	A34945933C	GSS	NM_000178.4(GSS):c.275+20T>G	noncoding	Benign
20	34955722	C	T	C34955722T	GSS	NM_000178.4(GSS):c.-9+5G>A	noncoding	Pathogenic
20	34978087	C	A	C34978087A	MYH7B	NM_020884.5(MYH7B):c.208C>A:p.Pro70Thr	coding	Benign
20	34979772	C	T	C34979772T	MYH7B	NM_020884.5(MYH7B):c.436C>T:p.Leu146=	coding	Benign
20	34982542	C	T	C34982542T	MYH7B	NM_020884.5(MYH7B):c.737C>T:p.Pro246Leu	coding	Benign
20	34982556	G	A	G34982556A	MYH7B	NM_020884.5(MYH7B):c.750+1G>A	coding	Pathogenic
20	34984844	A	C	A34984844C	MYH7B	NM_020884.5(MYH7B):c.775-10A>C	noncoding	Benign
20	34984847	G	A	G34984847A	MYH7B	NM_020884.5(MYH7B):c.775-7G>A	noncoding	Benign
20	34985116	G	A	G34985116A	MYH7B	NM_020884.5(MYH7B):c.918G>A:p.Ala306=	coding	Benign
20	34987241	C	T	C34987241T	MYH7B	NM_020884.5(MYH7B):c.1227C>T:p.Phe409=	coding	Benign
20	34987845	C	T	C34987845T	MYH7B	NM_020884.5(MYH7B):c.1473C>T:p.Thr491=	coding	Benign
20	34987874	T	A	T34987874A	MYH7B	NM_020884.5(MYH7B):c.1502T>A:p.Phe501Tyr	coding	Benign
20	34988223	C	T	C34988223T	MYH7B	NM_020884.5(MYH7B):c.1674C>T:p.Phe558=	coding	Benign
20	34989865	T	C	T34989865C	MYH7B	NM_020884.5(MYH7B):c.1839T>C:p.Pro613=	coding	Benign
20	34991017	C	T	C34991017T	MYH7B	NM_020884.5(MYH7B):c.2205C>T:p.Ala735=	coding	Benign
20	34993402	G	A	G34993402A	MYH7B	NM_020884.5(MYH7B):c.2502G>A:p.Leu834=	coding	Benign
20	34993430	C	T	C34993430T	MYH7B	NM_020884.5(MYH7B):c.2530C>T:p.Arg844Cys	coding	Benign
20	34994152	G	A	G34994152A	MYH7B	NM_020884.5(MYH7B):c.2577G>A:p.Ala859=	coding	Benign
20	34999656	C	T	C34999656T	MYH7B	NM_020884.5(MYH7B):c.4752C>T:p.Gly1584=	coding	Benign
20	35000390	G	A	G35000390A	MYH7B	NM_020884.5(MYH7B):c.5005G>A:p.Gly1669Ser	coding	Benign
20	35000567	T	A	T35000567A	MYH7B	NM_020884.5(MYH7B):c.5182T>A:p.Ser1728Thr	coding	Benign
20	35000887	C	T	C35000887T	MYH7B	NM_020884.5(MYH7B):c.5424C>T:p.Ile1808=	coding	Benign
20	35001071	G	A	G35001071A	MYH7B	NM_020884.5(MYH7B):c.5514G>A:p.Thr1838=	coding	Benign
20	35001284	A	C	A35001284C	MYH7B	NM_020884.5(MYH7B):c.5641A>C:p.Lys1881Gln	coding	Benign
20	35001525	C	T	C35001525T	MYH7B	NM_020884.5(MYH7B):c.5801C>T:p.Ala1934Val	coding	Benign
20	35115898	G	A	G35115898A	EDEM2	NM_018217.3(EDEM2):c.1272C>T:p.Arg424=	coding	Benign
20	35174893	T	C	T35174893C	PROCR	NM_006404.5(PROCR):c.262T>C:p.Ser88Pro	coding	Benign
20	35176238	C	T	C35176238T	PROCR	NM_006404.5(PROCR):c.393C>T:p.Phe131=	coding	Benign
20	35254705	C	T	C35254705T	MMP24	NM_006690.4(MMP24):c.768C>T:p.Thr256=	coding	Benign
20	35287759	C	T	C35287759T	FAM83C	NM_178468.6(FAM83C):c.1020G>A:p.Ser340=	coding	Benign
20	35288523	C	T	C35288523T	FAM83C	NM_178468.6(FAM83C):c.744G>A:p.Thr248=	coding	Benign
20	35433389	A	G	A35433389G	GDF5	NM_000557.5(GDF5):c.*520T>C	noncoding	Benign/Likely_benign
20	35433441	C	T	C35433441T	GDF5	NM_000557.5(GDF5):c.*468G>A	noncoding	Benign
20	35433484	A	G	A35433484G	GDF5	NM_000557.5(GDF5):c.*425T>C	noncoding	Benign
20	35433520	G	A	G35433520A	GDF5	NM_000557.5(GDF5):c.*389C>T	noncoding	Benign/Likely_benign
20	35433522	A	G	A35433522G	GDF5	NM_000557.5(GDF5):c.*387T>C	noncoding	Benign/Likely_benign
20	35433574	T	G	T35433574G	GDF5	NM_000557.5(GDF5):c.*335A>C	noncoding	Benign
20	35433716	C	A	C35433716A	GDF5	NM_000557.5(GDF5):c.*193G>T	noncoding	Benign
20	35433944	C	T	C35433944T	GDF5	NM_000557.5(GDF5):c.1471G>A:p.Glu491Lys	coding	Pathogenic
20	35433954	A	C	A35433954C	GDF5	NM_000557.5(GDF5):c.1461T>G:p.Tyr487Ter	coding	Pathogenic
20	35433991	C	T	C35433991T	GDF5	NM_000557.5(GDF5):c.1424G>A:p.Ser475Asn	coding	Pathogenic
20	35434093	A	G	A35434093G	GDF5	NM_000557.5(GDF5):c.1322T>C:p.Leu441Pro	coding	Pathogenic
20	35434102	C	A	C35434102A	GDF5	NM_000557.5(GDF5):c.1313G>T:p.Arg438Leu	coding	Pathogenic
20	35434109	G	T	G35434109T	GDF5	NM_000557.5(GDF5):c.1306C>A:p.Pro436Thr	coding	Pathogenic
20	35434216	C	T	C35434216T	GDF5	NM_000557.5(GDF5):c.1199G>A:p.Cys400Tyr	coding	Pathogenic
20	35434220	G	A	G35434220A	GDF5	NM_000557.5(GDF5):c.1195C>T:p.Arg399Cys	coding	Pathogenic
20	35434276	C	T	C35434276T	GDF5	NM_000557.5(GDF5):c.1139G>A:p.Arg380Gln	coding	Pathogenic
20	35434282	C	T	C35434282T	GDF5	NM_000557.5(GDF5):c.1133G>A:p.Arg378Gln	coding	Pathogenic
20	35434287	C	A	C35434287A	GDF5	NM_000557.5(GDF5):c.1128G>T:p.Gln376His	coding	Benign
20	35434297	A	C	A35434297C	GDF5	NM_000557.5(GDF5):c.1118T>G:p.Leu373Arg	coding	Pathogenic
20	35434398	T	C	T35434398C	GDF5	NM_000557.5(GDF5):c.1017A>G:p.Lys339=	coding	Benign
20	35434415	G	C	G35434415C	GDF5	NM_000557.5(GDF5):c.1000C>G:p.Arg334Gly	coding	Benign/Likely_benign
20	35434436	G	C	G35434436C	GDF5	NM_000557.5(GDF5):c.979C>G:p.Leu327Val	coding	Benign
20	35434462	C	G	C35434462G	GDF5	NM_000557.5(GDF5):c.953G>C:p.Arg318Pro	coding	Benign/Likely_benign
20	35434514	G	A	G35434514A	GDF5	NM_000557.5(GDF5):c.901C>T:p.Arg301Ter	coding	Pathogenic
20	35434589	C	A	C35434589A	GDF5	NM_000557.5(GDF5):c.826G>T:p.Ala276Ser	coding	Benign
20	35434763	T	G	T35434763G	GDF5	NM_000557.5(GDF5):c.652A>C:p.Arg218=	coding	Benign/Likely_benign
20	35437412	T	C	T35437412C	GDF5	NM_000557.5(GDF5):c.517A>G:p.Met173Val	coding	Pathogenic
20	35437432	G	T	G35437432T	GDF5	NM_000557.5(GDF5):c.497C>A:p.Pro166His	coding	Benign
20	35437467	G	T	G35437467T	GDF5	NM_000557.5(GDF5):c.462C>A:p.Pro154=	coding	Benign/Likely_benign
20	35437580	C	A	C35437580A	GDF5	NM_000557.5(GDF5):c.349G>T:p.Ala117Ser	coding	Benign
20	35437967	G	A	G35437967A	GDF5	NM_000557.5(GDF5):c.-39C>T	noncoding	Benign/Likely_benign
20	35438063	C	T	C35438063T	GDF5	NM_000557.5(GDF5):c.-135G>A	noncoding	Benign
20	35465803	C	T	C35465803T	CEP250	NM_007186.6(CEP250):c.304C>T:p.Arg102Ter	coding	Pathogenic
20	35466073	C	T	C35466073T	CEP250	NM_007186.6(CEP250):c.361C>T:p.Arg121Ter	coding	Pathogenic
20	35467035	C	T	C35467035T	CEP250	NM_007186.6(CEP250):c.562C>T:p.Arg188Ter	coding	Pathogenic
20	35467383	G	A	G35467383A	CEP250	NM_007186.6(CEP250):c.679G>A:p.Ala227Thr	coding	Benign
20	35476559	G	A	G35476559A	CEP250	NM_007186.6(CEP250):c.1827G>A:p.Ala609=	coding	Benign
20	35476569	G	T	G35476569T	CEP250	NM_007186.6(CEP250):c.1837G>T:p.Val613Phe	coding	Benign
20	35479748	C	T	C35479748T	CEP250	NM_007186.6(CEP250):c.2391C>T:p.Val797=	coding	Benign
20	35493493	G	A	G35493493A	CEP250	NM_007186.6(CEP250):c.2954G>A:p.Arg985Gln	coding	Benign
20	35493524	A	T	A35493524T	CEP250	NM_007186.6(CEP250):c.2985A>T:p.Gln995His	coding	Benign
20	35496623	C	G	C35496623G	CEP250	NM_007186.6(CEP250):c.3214C>G:p.Gln1072Glu	coding	Benign
20	35497793	G	A	G35497793A	CEP250	NM_007186.6(CEP250):c.3381G>A:p.Glu1127=	coding	Benign
20	35498677	C	T	C35498677T	CEP250	NM_007186.6(CEP250):c.3738C>T:p.His1246=	coding	Benign
20	35503151	G	A	G35503151A	CEP250	NM_007186.6(CEP250):c.4782G>A:p.Thr1594=	coding	Benign
20	35503847	G	A	G35503847A	CEP250	NM_007186.6(CEP250):c.5478G>A:p.Gln1826=	coding	Benign
20	35504385	G	A	G35504385A	CEP250	NM_007186.6(CEP250):c.6016G>A:p.Asp2006Asn	coding	Benign
20	35504519	G	A	G35504519A	CEP250	NM_007186.6(CEP250):c.6150G>A:p.Glu2050=	coding	Benign
20	35504580	G	A	G35504580A	CEP250	NM_007186.6(CEP250):c.6211G>A:p.Glu2071Lys	coding	Benign
20	35504980	G	A	G35504980A	CEP250	NM_007186.6(CEP250):c.6611G>A:p.Arg2204Gln	coding	Benign
20	35507857	C	G	C35507857G	CEP250	NM_007186.6(CEP250):c.6750+6C>G	noncoding	Benign
20	35508987	G	A	G35508987A	CEP250	NM_007186.6(CEP250):c.6951G>A:p.Ala2317=	coding	Benign
20	35556029	A	G	A35556029G	ERGIC3	NM_015966.3(ERGIC3):c.718-4A>G	noncoding	Benign
20	35556978	G	A	G35556978A	ERGIC3	NM_015966.3(ERGIC3):c.885G>A:p.Leu295=	coding	Benign
20	35652764	T	C	T35652764C	RBM12	NM_006047.6(RBM12):c.2559A>G:p.Pro853=	coding	Benign
20	35652914	C	T	C35652914T	RBM12	NM_006047.6(RBM12):c.2409G>A:p.Pro803=	coding	Benign
20	35652946	C	A	C35652946A	RBM12	NM_006047.6(RBM12):c.2377G>T:p.Gly793Ter	coding	Pathogenic
20	35653608	T	C	T35653608C	RBM12	NM_006047.6(RBM12):c.1715A>G:p.Asn572Ser	coding	Benign
20	35654738	C	T	C35654738T	RBM12	NM_006047.6(RBM12):c.585G>A:p.Ala195=	coding	Benign
20	35669741	A	C	A35669741C	NFS1	NM_021100.5(NFS1):c.1311-56T>G	noncoding	Benign
20	35673058	T	C	T35673058C	NFS1	NM_021100.5(NFS1):c.1221-214A>G	noncoding	Benign
20	35673309	A	G	A35673309G	NFS1	NM_021100.5(NFS1):c.1220+292T>C	noncoding	Benign
20	35673538	G	C	G35673538C	NFS1	NM_021100.5(NFS1):c.1220+63C>G	noncoding	Benign
20	35674089	A	C	A35674089C	NFS1	NM_021100.5(NFS1):c.1136+261T>G	noncoding	Benign
20	35674339	G	A	G35674339A	NFS1	NM_021100.5(NFS1):c.1136+11C>T	noncoding	Benign
20	35697520	C	T	C35697520T	NFS1	NM_021100.5(NFS1):c.324+164G>A	noncoding	Benign
20	35697600	T	A	T35697600A	NFS1	NM_021100.5(NFS1):c.324+84A>T	noncoding	Benign
20	35698393	A	T	A35698393T	NFS1	NM_021100.5(NFS1):c.207+88T>A	noncoding	Benign
20	35863240	C	T	C35863240T	PHF20	NM_016436.5(PHF20):c.648C>T:p.Asn216=	coding	Benign
20	35917475	T	G	T35917475G	PHF20	NM_016436.5(PHF20):c.1826-9T>G	noncoding	Benign
20	35917480	G	A	G35917480A	PHF20	NM_016436.5(PHF20):c.1826-4G>A	noncoding	Benign
20	35917521	T	C	T35917521C	PHF20	NM_016436.5(PHF20):c.1863T>C:p.Phe621=	coding	Benign
20	35938798	G	C	G35938798C	PHF20	NM_016436.5(PHF20):c.2402G>C:p.Arg801Thr	coding	Benign
20	35938877	G	A	G35938877A	PHF20	NM_016436.5(PHF20):c.2481G>A:p.Pro827=	coding	Benign
20	35938931	C	T	C35938931T	PHF20	NM_016436.5(PHF20):c.2535C>T:p.Arg845=	coding	Benign
20	35940872	A	G	A35940872G	PHF20	NM_016436.5(PHF20):c.2721A>G:p.Glu907=	coding	Benign
20	35947479	C	T	C35947479T	PHF20	NM_016436.5(PHF20):c.2897-6C>T	noncoding	Benign
20	36182312	G	T	G36182312T	EPB41L1	NM_012156.2(EPB41L1):c.531G>T:p.Pro177=	coding	Benign/Likely_benign
20	36182336	A	G	A36182336G	EPB41L1	NM_012156.2(EPB41L1):c.555A>G:p.Glu185=	coding	Benign
20	36185132	G	C	G36185132C	EPB41L1	NM_012156.2(EPB41L1):c.582G>C:p.Leu194=	coding	Benign
20	36185276	C	T	C36185276T	EPB41L1	NM_012156.2(EPB41L1):c.726C>T:p.Phe242=	coding	Benign/Likely_benign
20	36185318	G	A	G36185318A	EPB41L1	NM_012156.2(EPB41L1):c.768G>A:p.Glu256=	coding	Benign
20	36187770	C	G	C36187770G	EPB41L1	NM_012156.2(EPB41L1):c.873+7C>G	noncoding	Benign
20	36188509	C	T	C36188509T	EPB41L1	NM_012156.2(EPB41L1):c.1026+10C>T	noncoding	Benign
20	36190679	G	A	G36190679A	EPB41L1	NM_012156.2(EPB41L1):c.1182G>A:p.Arg394=	coding	Benign
20	36190694	C	T	C36190694T	EPB41L1	NM_012156.2(EPB41L1):c.1197C>T:p.Thr399=	coding	Benign
20	36190742	C	T	C36190742T	EPB41L1	NM_012156.2(EPB41L1):c.1245C>T:p.Pro415=	coding	Benign/Likely_benign
20	36194234	G	A	G36194234A	EPB41L1	NM_012156.2(EPB41L1):c.1323G>A:p.Ser441=	coding	Benign
20	36197912	G	A	G36197912A	EPB41L1	NM_012156.2(EPB41L1):c.1539G>A:p.Glu513=	coding	Benign
20	36198013	C	G	C36198013G	EPB41L1	NM_012156.2(EPB41L1):c.1640C>G:p.Pro547Arg	coding	Benign
20	36198016	A	G	A36198016G	EPB41L1	NM_012156.2(EPB41L1):c.1643A>G:p.Lys548Arg	coding	Benign/Likely_benign
20	36209688	G	A	G36209688A	EPB41L1	NM_012156.2(EPB41L1):c.1869G>A:p.Thr623=	coding	Benign
20	36209753	G	A	G36209753A	EPB41L1	NM_012156.2(EPB41L1):c.1934G>A:p.Arg645Gln	coding	Benign/Likely_benign
20	36222317	C	T	C36222317T	EPB41L1	NM_012156.2(EPB41L1):c.2560C>T:p.Pro854Ser	coding	Pathogenic
20	36432210	G	A	G36432210A	DLGAP4	NM_014902.6(DLGAP4):c.493G>A:p.Gly165Ser	coding	Benign
20	36432450	G	A	G36432450A	DLGAP4	NM_014902.6(DLGAP4):c.733G>A:p.Ala245Thr	coding	Benign
20	36524272	T	C	T36524272C	DLGAP4	NM_014902.6(DLGAP4):c.2526T>C:p.Ala842=	coding	Benign
20	36614342	C	T	C36614342T	SLA2	NM_032214.4(SLA2):c.628G>A:p.Val210Met	coding	Benign
20	36634550	G	A	G36634550A	SLA2	NM_032214.4(SLA2):c.131C>T:p.Pro44Leu	coding	Benign
20	36754830	T	C	T36754830C	DSN1	NM_001145315.2(DSN1):c.894A>G:p.Ser298=	coding	Benign
20	36771156	T	C	T36771156C	DSN1	NM_001145315.2(DSN1):c.72A>G:p.Gln24=	coding	Benign
20	36794389	C	G	C36794389G	SOGA1	NM_080627.4(SOGA1):c.3693G>C:p.Gln1231His	coding	Benign
20	36816191	C	T	C36816191T	SOGA1	NM_080627.4(SOGA1):c.1251G>A:p.Leu417=	coding	Benign
20	36879155	G	A	G36879155A	TLDC2	NM_080628.3(TLDC2):c.304G>A:p.Gly102Arg	coding	Benign
20	36891924	G	C	G36891924C	SAMHD1	NM_080628.3(TLDC2):c.18-938G>C	noncoding	Benign
20	36892303	G	A	G36892303A	SAMHD1	NM_080628.3(TLDC2):c.18-559G>A	noncoding	Benign
20	36892644	T	C	T36892644C	SAMHD1	NM_080628.3(TLDC2):c.18-218T>C	noncoding	Benign
20	36892812	G	A	G36892812A	SAMHD1	NM_015474.4(SAMHD1):c.*120C>T	noncoding	Benign/Likely_benign
20	36892861	G	T	G36892861T	SAMHD1	NM_080628.3(TLDC2):c.18-1G>T	noncoding	Benign
20	36892872	T	C	T36892872C	SAMHD1	NM_080628.3(TLDC2):c.*28T>C	noncoding	Benign
20	36892887	G	A	G36892887A	SAMHD1	NM_080628.3(TLDC2):c.*43G>A	noncoding	Benign
20	36893016	G	A	G36893016A	SAMHD1	NM_080628.3(TLDC2):c.*172G>A	coding	Benign
20	36897876	G	A	G36897876A	SAMHD1	NM_015474.3(SAMHD1):c.1692C>T:p.Ala564=	coding	Benign
20	36897926	G	A	G36897926A	SAMHD1	NM_015474.3(SAMHD1):c.1642C>T:p.Gln548Ter	coding	Pathogenic
20	36897960	C	G	C36897960G	SAMHD1	NM_015474.3(SAMHD1):c.1609-1G>C	coding	Pathogenic
20	36904156	C	A	C36904156A	SAMHD1	NM_015474.3(SAMHD1):c.1503+1G>T	noncoding	Pathogenic
20	36904251	T	C	T36904251C	SAMHD1	NM_015474.3(SAMHD1):c.1411-2A>G	noncoding	Pathogenic
20	36905406	A	C	A36905406C	SAMHD1	NM_015474.4(SAMHD1):c.1368T>G:p.Tyr456Ter	coding	Pathogenic
20	36912462	T	C	T36912462C	SAMHD1	NM_015474.3(SAMHD1):c.1153A>G:p.Met385Val	coding	Pathogenic
20	36912509	A	G	A36912509G	SAMHD1	NM_015474.3(SAMHD1):c.1106T>C:p.Leu369Ser	coding	Pathogenic
20	36916963	C	T	C36916963T	SAMHD1	NM_015474.4(SAMHD1):c.939G>A:p.Trp313Ter	coding	Pathogenic
20	36919456	T	C	T36919456C	SAMHD1	NM_015474.3(SAMHD1):c.760A>G:p.Met254Val	coding	Pathogenic
20	36919516	C	A	C36919516A	SAMHD1	NM_015474.3(SAMHD1):c.700G>T:p.Glu234Ter	coding	Pathogenic
20	36927220	G	A	G36927220A	SAMHD1	NM_015474.3(SAMHD1):c.658C>T:p.Arg220Ter	coding	Pathogenic
20	36930805	G	A	G36930805A	SAMHD1	NM_015474.4(SAMHD1):c.580C>T:p.Arg194Ter	coding	Pathogenic
20	36935048	G	A	G36935048A	SAMHD1	NM_015474.3(SAMHD1):c.490C>T:p.Arg164Ter	coding	Pathogenic/Likely_pathogenic
20	36935093	G	A	G36935093A	SAMHD1	NM_015474.3(SAMHD1):c.445C>T:p.Gln149Ter	coding	Pathogenic
20	36935104	C	T	C36935104T	SAMHD1	NM_015474.3(SAMHD1):c.434G>A:p.Arg145Gln	coding	Pathogenic
20	36935105	G	A	G36935105A	SAMHD1	NM_015474.3(SAMHD1):c.433C>T:p.Arg145Ter	coding	Pathogenic
20	36935111	G	A	G36935111A	SAMHD1	NM_015474.3(SAMHD1):c.427C>T:p.Arg143Cys	coding	Pathogenic
20	36935138	G	A	G36935138A	SAMHD1	NM_015474.3(SAMHD1):c.400C>T:p.Arg134Ter	coding	Pathogenic
20	36935170	T	G	T36935170G	SAMHD1	NM_015474.3(SAMHD1):c.368A>C:p.His123Pro	coding	Pathogenic
20	36946730	A	T	A36946730T	SAMHD1	NM_015474.4(SAMHD1):c.275+8T>A	noncoding	Benign
20	36946776	A	G	A36946776G	SAMHD1	NM_015474.3(SAMHD1):c.237T>C:p.Pro79=	coding	Benign/Likely_benign
20	36951753	A	G	A36951753G	SAMHD1	NM_015474.3(SAMHD1):c.-110T>C	noncoding	Benign
20	36951809	C	A	C36951809A	SAMHD1	NM_015474.3(SAMHD1):c.-166G>T	noncoding	Benign/Likely_benign
20	37007537	T	A	T37007537A	RBL1	NM_002895.5(RBL1):c.2745A>T:p.Thr915=	coding	Benign
20	37047099	G	C	G37047099C	RBL1	NM_002895.5(RBL1):c.1559C>G:p.Pro520Arg	coding	Benign
20	37198454	T	C	T37198454C	RPN2	NM_002951.5(RPN2):c.265T>C:p.Tyr89His	coding	Benign
20	37198500	C	T	C37198500T	RPN2	NM_002951.5(RPN2):c.303+8C>T	noncoding	Benign
20	37229979	G	T	G37229979T	RPN2	NM_002951.5(RPN2):c.1501G>T:p.Val501Leu	coding	Benign
20	37236651	C	T	C37236651T	RPN2	NM_002951.5(RPN2):c.1825C>T:p.Leu609=	coding	Benign
20	37256435	G	A	G37256435A	GHRH	NM_021081.5(GHRH):c.147C>T:p.Ser49=	coding	Benign
20	37393931	A	G	A37393931G	SRC	NM_005417.4(SRC):c.387A>G:p.Thr129=	coding	Benign
20	37394002	C	T	C37394002T	SRC	NM_005417.4(SRC):c.449+9C>T	noncoding	Benign
20	37396157	C	T	C37396157T	SRC	NM_005417.4(SRC):c.554-5C>T	noncoding	Benign
20	37396292	G	A	G37396292A	SRC	NM_005417.4(SRC):c.684G>A:p.Gln228=	coding	Benign
20	37402446	C	A	C37402446A	SRC	NM_005417.4(SRC):c.1128C>A:p.Gly376=	coding	Benign
20	37402452	G	A	G37402452A	SRC	NM_005417.4(SRC):c.1134G>A:p.Ala378=	coding	Benign
20	37402542	T	C	T37402542C	SRC	NM_005417.4(SRC):c.1224T>C:p.Phe408=	coding	Benign
20	37402572	G	A	G37402572A	SRC	NM_005417.4(SRC):c.1254G>A:p.Glu418=	coding	Benign
20	37403235	G	A	G37403235A	SRC	NM_005417.4(SRC):c.1467G>A:p.Glu489=	coding	Benign
20	37403347	G	A	G37403347A	SRC	NM_005417.4(SRC):c.1579G>A:p.Glu527Lys	coding	Pathogenic/Likely_pathogenic
20	37403359	C	T	C37403359T	SRC	NM_005417.4(SRC):c.1591C>T:p.Gln531Ter	coding	Pathogenic/Likely_pathogenic
20	37999179	G	A	G37999179A	TTI1	NM_001303457.2(TTI1):c.2793+9C>T	noncoding	Benign
20	38006315	T	C	T38006315C	TTI1	NM_001303457.2(TTI1):c.2385A>G:p.Arg795=	coding	Benign
20	38012064	G	A	G38012064A	TTI1	NM_001303457.2(TTI1):c.1753C>T:p.Leu585=	coding	Benign
20	38012191	G	A	G38012191A	TTI1	NM_001303457.2(TTI1):c.1626C>T:p.His542=	coding	Benign
20	38013265	C	T	C38013265T	TTI1	NM_001303457.2(TTI1):c.552G>A:p.Gln184=	coding	Benign
20	38130360	G	A	G38130360A	TGM2	NM_004613.4(TGM2):c.1923C>T:p.Pro641=	coding	Benign
20	38131101	C	T	C38131101T	TGM2	NM_004613.4(TGM2):c.1905G>A:p.Thr635=	coding	Benign
20	38132492	C	A	C38132492A	TGM2	NM_004613.4(TGM2):c.1624G>T:p.Val542Phe	coding	Benign
20	38139506	G	T	G38139506T	TGM2	NM_004613.4(TGM2):c.1248C>A:p.Ile416=	coding	Benign
20	38139584	C	T	C38139584T	TGM2	NM_004613.4(TGM2):c.1170G>A:p.Ala390=	coding	Benign
20	38139624	C	T	C38139624T	TGM2	NM_004613.4(TGM2):c.1130G>A:p.Arg377His	coding	Benign
20	38142081	G	A	G38142081A	TGM2	NM_004613.4(TGM2):c.978C>T:p.Asp326=	coding	Benign
20	38142117	C	T	C38142117T	TGM2	NM_004613.4(TGM2):c.942G>A:p.Glu314=	coding	Benign
20	38146730	G	A	G38146730A	TGM2	NM_004613.4(TGM2):c.846C>T:p.Ala282=	coding	Benign
20	38146841	G	A	G38146841A	TGM2	NM_004613.4(TGM2):c.735C>T:p.Tyr245=	coding	Benign
20	38147991	G	C	G38147991C	TGM2	NM_004613.4(TGM2):c.651C>G:p.Pro217=	coding	Benign
20	38151056	C	T	C38151056T	TGM2	NM_004613.4(TGM2):c.435G>A:p.Ala145=	coding	Benign
20	38156053	C	T	C38156053T	TGM2	NM_004613.4(TGM2):c.227G>A:p.Arg76His	coding	Benign
20	38156067	G	A	G38156067A	TGM2	NM_004613.4(TGM2):c.213C>T:p.Ala71=	coding	Benign
20	38161526	C	T	C38161526T	TGM2	NM_004613.4(TGM2):c.84G>A:p.Arg28=	coding	Benign
20	38213437	G	A	G38213437A	KIAA1755	NM_001029864.2(KIAA1755):c.3208C>T:p.Arg1070Ter	coding	Benign
20	38240983	C	G	C38240983G	KIAA1755	NM_001029864.2(KIAA1755):c.1148G>C:p.Cys383Ser	coding	Benign
20	38304245	G	A	G38304245A	BPI	NM_001725.3(BPI):c.22G>A:p.Ala8Thr	coding	Benign
20	38304246	C	T	C38304246T	BPI	NM_001725.3(BPI):c.23C>T:p.Ala8Val	coding	Benign
20	38304258	C	T	C38304258T	BPI	NM_001725.3(BPI):c.35C>T:p.Ala12Val	coding	Benign
20	38304274	G	C	G38304274C	BPI	NM_001725.3(BPI):c.51G>C:p.Leu17=	coding	Benign
20	38308940	C	T	C38308940T	BPI	NM_001725.3(BPI):c.256C>T:p.Arg86Cys	coding	Benign
20	38309029	C	T	C38309029T	BPI	NM_001725.3(BPI):c.345C>T:p.Ser115=	coding	Benign
20	38310522	G	C	G38310522C	BPI	NM_001725.3(BPI):c.406G>C:p.Glu136Gln	coding	Benign
20	38310650	G	C	G38310650C	BPI	NM_001725.3(BPI):c.534G>C:p.Val178=	coding	Benign
20	38311912	C	T	C38311912T	BPI	NM_001725.3(BPI):c.575C>T:p.Ala192Val	coding	Benign
20	38318446	G	A	G38318446A	BPI	NM_001725.3(BPI):c.634G>A:p.Glu212Lys	coding	Benign
20	38318483	G	T	G38318483T	BPI	NM_001725.3(BPI):c.664+7G>T	noncoding	Benign
20	38349567	A	G	A38349567G	LBP	NM_004139.5(LBP):c.144A>G:p.Leu48=	coding	Benign
20	38354288	C	A	C38354288A	LBP	NM_004139.5(LBP):c.373C>A:p.Leu125Ile	coding	Benign
20	38360727	A	G	A38360727G	LBP	NM_004139.5(LBP):c.612A>G:p.Ser204=	coding	Benign
20	38360737	G	A	G38360737A	LBP	NM_004139.5(LBP):c.622G>A:p.Asp208Asn	coding	Benign
20	38364577	G	A	G38364577A	LBP	NM_004139.5(LBP):c.746G>A:p.Gly249Asp	coding	Benign
20	38373127	A	C	A38373127C	LBP	NM_004139.5(LBP):c.1316A>C:p.Lys439Thr	coding	Benign
20	38373947	C	T	C38373947T	LBP	NM_004139.5(LBP):c.1335C>T:p.Ala445=	coding	Benign
20	38570800	G	A	G38570800A	RALGAPB	NM_020336.4(RALGAPB):c.4095G>A:p.Glu1365=	coding	Benign
20	38728328	A	G	A38728328G	SLC32A1	NM_080552.3(SLC32A1):c.1267A>G:p.Ser423Gly	coding	Benign
20	40685871	A	T	A40685871T	MAFB	NM_005461.5(MAFB):c.*2008T>A	noncoding	Benign
20	40686030	G	A	G40686030A	MAFB	NM_005461.5(MAFB):c.*1849C>T	noncoding	Benign
20	40686142	T	C	T40686142C	MAFB	NM_005461.5(MAFB):c.*1737A>G	noncoding	Benign
20	40686189	C	T	C40686189T	MAFB	NM_005461.5(MAFB):c.*1690G>A	noncoding	Benign
20	40686565	T	C	T40686565C	MAFB	NM_005461.5(MAFB):c.*1314A>G	noncoding	Benign
20	40686860	T	C	T40686860C	MAFB	NM_005461.5(MAFB):c.*1019A>G	noncoding	Benign
20	40687724	G	A	G40687724A	MAFB	NM_005461.5(MAFB):c.*155C>T	noncoding	Benign
20	40687727	C	G	C40687727G	MAFB	NM_005461.5(MAFB):c.*152G>C	noncoding	Benign
20	40687811	C	T	C40687811T	MAFB	NM_005461.5(MAFB):c.*68G>A	noncoding	Benign
20	40688106	G	T	G40688106T	MAFB	NM_005461.5(MAFB):c.745C>A:p.Arg249=	coding	Benign
20	40688137	G	A	G40688137A	MAFB	NM_005461.5(MAFB):c.714C>T:p.Arg238=	coding	Benign
20	40688598	G	T	G40688598T	MAFB	NM_005461.5(MAFB):c.253C>A:p.Leu85Met	coding	Benign
20	40688639	G	A	G40688639A	MAFB	NM_005461.5(MAFB):c.212C>T:p.Pro71Leu	coding	Pathogenic
20	40688640	G	A	G40688640A	MAFB	NM_005461.5(MAFB):c.211C>T:p.Pro71Ser	coding	Pathogenic
20	40688643	A	C	A40688643C	MAFB	NM_005461.5(MAFB):c.208T>G:p.Ser70Ala	coding	Pathogenic
20	40688666	G	A	G40688666A	MAFB	NM_005461.5(MAFB):c.185C>T:p.Thr62Ile	coding	Pathogenic
20	40688667	T	C	T40688667C	MAFB	NM_005461.5(MAFB):c.184A>G:p.Thr62Ala	coding	Pathogenic
20	40688667	T	G	T40688667G	MAFB	NM_005461.5(MAFB):c.184A>C:p.Thr62Pro	coding	Pathogenic
20	40688690	G	A	G40688690A	MAFB	NM_005461.5(MAFB):c.161C>T:p.Ser54Leu	coding	Pathogenic
20	40688925	G	C	G40688925C	MAFB	NM_005461.5(MAFB):c.-75C>G	noncoding	Benign
20	40689160	C	T	C40689160T	MAFB	NM_005461.5(MAFB):c.-310G>A	noncoding	Benign
20	41061479	G	A	G41061479A	TOP1	NM_003286.4(TOP1):c.144G>A:p.Lys48=	coding	Benign
20	41076256	C	T	C41076256T	TOP1	NM_003286.4(TOP1):c.241C>T:p.His81Tyr	coding	Benign
20	41084482	C	T	C41084482T	TOP1	NM_003286.4(TOP1):c.528C>T:p.Pro176=	coding	Benign
20	41084548	A	G	A41084548G	TOP1	NM_003286.4(TOP1):c.594A>G:p.Glu198=	coding	Benign
20	41100127	G	A	G41100127A	TOP1	NM_003286.4(TOP1):c.1047G>A:p.Arg349=	coding	Benign
20	41101297	G	A	G41101297A	TOP1	NM_003286.4(TOP1):c.1252G>A:p.Glu418Lys	coding	Pathogenic
20	41121785	G	A	G41121785A	TOP1	NM_003286.4(TOP1):c.2040G>A:p.Thr680=	coding	Benign
20	41166245	G	A	G41166245A	PLCG1	NM_002660.3(PLCG1):c.1851G>A:p.Gly617=	coding	Benign
20	41169148	C	T	C41169148T	PLCG1	NM_002660.3(PLCG1):c.2553C>T:p.Asn851=	coding	Benign
20	41345862	G	A	G41345862A	LPIN3	NM_001301860.2(LPIN3):c.59G>A:p.Arg20Gln	coding	Benign
20	41404806	C	T	C41404806T	CHD6	NM_032221.5(CHD6):c.7935G>A:p.Ser2645=	coding	Benign
20	41412185	C	G	C41412185G	CHD6	NM_032221.5(CHD6):c.7210G>C:p.Glu2404Gln	coding	Benign
20	41412230	G	A	G41412230A	CHD6	NM_032221.5(CHD6):c.7165C>T:p.Arg2389Cys	coding	Benign
20	41413491	C	T	C41413491T	CHD6	NM_032221.5(CHD6):c.6964G>A:p.Ala2322Thr	coding	Benign
20	41421358	A	T	A41421358T	CHD6	NM_032221.5(CHD6):c.5277T>A:p.Thr1759=	coding	Benign
20	41422079	C	T	C41422079T	CHD6	NM_032221.5(CHD6):c.4556G>A:p.Gly1519Asp	coding	Benign
20	41445729	C	T	C41445729T	CHD6	NM_032221.5(CHD6):c.3813G>A:p.Glu1271=	coding	Benign
20	41451002	G	A	G41451002A	CHD6	NM_032221.5(CHD6):c.3627C>T:p.Pro1209=	coding	Benign
20	41452811	G	A	G41452811A	CHD6	NM_032221.5(CHD6):c.3252C>T:p.Arg1084=	coding	Benign
20	41457348	G	C	G41457348C	CHD6	NM_032221.5(CHD6):c.2745C>G:p.Arg915=	coding	Benign
20	41512842	A	G	A41512842G	CHD6	NM_032221.5(CHD6):c.852+4T>C	noncoding	Benign
20	41533045	C	T	C41533045T	CHD6	NM_032221.5(CHD6):c.554+5G>A	noncoding	Benign
20	41533153	C	T	C41533153T	CHD6	NM_032221.5(CHD6):c.451G>A:p.Ala151Thr	coding	Benign
20	41533340	T	A	T41533340A	CHD6	NM_032221.5(CHD6):c.264A>T:p.Gly88=	coding	Benign
20	42081914	G	A	G42081914A	PTPRT	NM_007050.6(PTPRT):c.4240C>T:p.Arg1414Cys	coding	Benign
20	42106831	G	A	G42106831A	PTPRT	NM_007050.6(PTPRT):c.3345C>T:p.Cys1115=	coding	Benign
20	42110428	G	A	G42110428A	PTPRT	NM_007050.6(PTPRT):c.3159C>T:p.His1053=	coding	Benign
20	42115305	A	G	A42115305G	PTPRT	NM_007050.6(PTPRT):c.2993T>C:p.Val998Ala	coding	Benign
20	42118445	G	A	G42118445A	PTPRT	NM_007050.6(PTPRT):c.2940C>T:p.Ser980=	coding	Benign
20	42128804	C	G	C42128804G	PTPRT	NM_007050.6(PTPRT):c.2797G>C:p.Val933Leu	coding	Benign
20	42161520	A	G	A42161520G	PTPRT	NM_007050.6(PTPRT):c.2514T>C:p.Leu838=	coding	Benign
20	42199294	C	T	C42199294T	PTPRT	NM_007050.6(PTPRT):c.2437G>A:p.Ala813Thr	coding	Benign
20	42270421	T	G	T42270421G	PTPRT	NM_007050.6(PTPRT):c.2176+12068A>C	coding	Benign
20	42352133	T	C	T42352133C	PTPRT	NM_007050.6(PTPRT):c.1713A>G:p.Ala571=	coding	Benign
20	42472282	C	T	C42472282T	PTPRT	NM_007050.6(PTPRT):c.1434G>A:p.Val478=	coding	Benign
20	42472375	G	A	G42472375A	PTPRT	NM_007050.6(PTPRT):c.1341C>T:p.Tyr447=	coding	Benign
20	42472411	G	A	G42472411A	PTPRT	NM_007050.6(PTPRT):c.1305C>T:p.Tyr435=	coding	Benign
20	42472521	T	G	T42472521G	PTPRT	NM_007050.6(PTPRT):c.1195A>C:p.Arg399=	coding	Benign
20	42472530	C	T	C42472530T	PTPRT	NM_007050.6(PTPRT):c.1186G>A:p.Val396Ile	coding	Benign
20	42472555	T	C	T42472555C	PTPRT	NM_007050.6(PTPRT):c.1161A>G:p.Val387=	coding	Benign
20	42756571	G	A	G42756571A	PTPRT	NM_007050.6(PTPRT):c.750C>T:p.Ala250=	coding	Benign
20	42756595	C	T	C42756595T	PTPRT	NM_007050.6(PTPRT):c.726G>A:p.Val242=	coding	Benign
20	42771474	A	T	A42771474T	PTPRT	NM_007050.6(PTPRT):c.645T>A:p.Ala215=	coding	Benign
20	42791225	G	A	G42791225A	PTPRT	NM_007050.6(PTPRT):c.456C>T:p.Ala152=	coding	Benign
20	42791276	C	G	C42791276G	PTPRT	NM_007050.6(PTPRT):c.405G>C:p.Val135=	coding	Benign
20	42885901	G	A	G42885901A	PTPRT	NM_007050.6(PTPRT):c.120C>T:p.Asn40=	coding	Benign
20	42885907	G	A	G42885907A	PTPRT	NM_007050.6(PTPRT):c.114C>T:p.Tyr38=	coding	Benign
20	43460026	C	T	C43460026T	SRSF6	NM_006275.6(SRSF6):c.382-7C>T	noncoding	Benign
20	43460203	C	T	C43460203T	SRSF6	NM_006275.6(SRSF6):c.552C>T:p.Arg184=	coding	Benign
20	43515296	G	A	G43515296A	L3MBTL1	NM_032107.5(L3MBTL1):c.592G>A:p.Val198Ile	coding	Benign
20	43568007	A	T	A43568007T	SGK2	NM_170693.3(SGK2):c.228+8A>T	noncoding	Benign
20	43603845	A	G	A43603845G	IFT52	NM_016004.5(IFT52):c.293A>G:p.Asn98Ser	coding	Pathogenic
20	43605012	C	T	C43605012T	IFT52	NM_016004.5(IFT52):c.424C>T:p.Arg142Ter	coding	Pathogenic
20	43613884	T	C	T43613884C	IFT52	NM_016004.5(IFT52):c.520T>C:p.Leu174=	coding	Benign
20	43613920	A	G	A43613920G	IFT52	NM_016004.5(IFT52):c.556A>G:p.Thr186Ala	coding	Pathogenic
20	43613959	G	A	G43613959A	IFT52	NM_016004.5(IFT52):c.595G>A:p.Ala199Thr	coding	Pathogenic/Likely_pathogenic
20	43613966	A	G	A43613966G	IFT52	NM_016004.5(IFT52):c.602A>G:p.Tyr201Cys	coding	Benign
20	43623942	C	T	C43623942T	IFT52	NM_016004.5(IFT52):c.820C>T:p.Arg274Ter	coding	Pathogenic
20	43623947	G	A	G43623947A	IFT52	NM_016004.5(IFT52):c.825G>A:p.Glu275=	coding	Benign
20	43681786	C	T	C43681786T	MYBL2	NM_002466.4(MYBL2):c.117C>T:p.Asp39=	coding	Benign
20	43692228	G	A	G43692228A	MYBL2	NM_002466.4(MYBL2):c.572G>A:p.Ser191Asn	coding	Benign
20	43699784	G	T	G43699784T	MYBL2	NM_002466.4(MYBL2):c.691G>T:p.Val231Phe	coding	Benign
20	43702560	A	G	A43702560G	MYBL2	NM_002466.4(MYBL2):c.1022A>G:p.Asn341Ser	coding	Benign
20	43713065	G	A	G43713065A	MYBL2	NM_002466.4(MYBL2):c.1783G>A:p.Val595Met	coding	Benign
20	44114814	A	G	A44114814G	JPH2	NM_020433.5(JPH2):c.2073T>C:p.Phe691=	coding	Benign
20	44115625	G	C	G44115625C	JPH2	NM_020433.4(JPH2):c.2010+40C>G	noncoding	Benign
20	44115704	C	T	C44115704T	JPH2	NM_020433.5(JPH2):c.1971G>A:p.Glu657=	coding	Benign/Likely_benign
20	44115881	G	T	G44115881T	JPH2	NM_020433.5(JPH2):c.1794C>A:p.Ser598=	coding	Benign
20	44115947	G	C	G44115947C	JPH2	NM_020433.5(JPH2):c.1728C>G:p.Pro576=	coding	Benign
20	44115971	G	A	G44115971A	JPH2	NM_020433.4(JPH2):c.1704C>T:p.Ser568=	coding	Benign/Likely_benign
20	44116162	C	T	C44116162T	JPH2	NM_020433.5(JPH2):c.1513G>A:p.Gly505Ser	coding	Benign
20	44116393	G	A	G44116393A	JPH2	NM_020433.5(JPH2):c.1289-7C>T	noncoding	Benign
20	44116475	T	G	T44116475G	JPH2	NM_020433.4(JPH2):c.1289-89A>C	noncoding	Benign
20	44116710	T	A	T44116710A	JPH2	NM_020433.4(JPH2):c.1289-324A>T	noncoding	Benign
20	44118607	C	T	C44118607T	JPH2	NM_020433.5(JPH2):c.1186G>A:p.Ala396Thr	coding	Benign
20	44118614	G	A	G44118614A	JPH2	NM_020433.5(JPH2):c.1179C>T:p.His393=	coding	Benign
20	44159650	G	T	G44159650T	JPH2	NM_020433.4(JPH2):c.1137C>A:p.Ile379=	coding	Benign/Likely_benign
20	44159680	A	G	A44159680G	JPH2	NM_020433.5(JPH2):c.1107T>C:p.Ser369=	coding	Benign/Likely_benign
20	44160007	G	A	G44160007A	JPH2	NM_020433.5(JPH2):c.780C>T:p.Ala260=	coding	Benign
20	44160145	C	T	C44160145T	JPH2	NM_020433.5(JPH2):c.642G>A:p.Ala214=	coding	Benign/Likely_benign
20	44160225	G	A	G44160225A	JPH2	NM_020433.4(JPH2):c.562C>T:p.Pro188Ser	coding	Benign/Likely_benign
20	44160293	G	A	G44160293A	JPH2	NM_020433.4(JPH2):c.494C>T:p.Ser165Phe	coding	Pathogenic
20	44160304	C	T	C44160304T	JPH2	NM_020433.4(JPH2):c.483G>A:p.Thr161=	coding	Benign/Likely_benign
20	44160413	G	A	G44160413A	JPH2	NM_020433.5(JPH2):c.380-6C>T	noncoding	Benign
20	44160416	G	C	G44160416C	JPH2	NM_020433.5(JPH2):c.380-9C>G	noncoding	Benign
20	44177722	G	C	G44177722C	JPH2	NM_020433.4(JPH2):c.379+8605C>G	coding	Benign
20	44177789	A	T	A44177789T	JPH2	NM_020433.4(JPH2):c.379+8538T>A	coding	Benign
20	44186048	G	T	G44186048T	JPH2	NM_020433.4(JPH2):c.379+279C>A	noncoding	Benign
20	44186197	A	G	A44186197G	JPH2	NM_020433.4(JPH2):c.379+130T>C	noncoding	Benign
20	44186291	T	C	T44186291C	JPH2	NM_020433.4(JPH2):c.379+36A>G	noncoding	Benign
20	44186405	T	G	T44186405G	JPH2	NM_020433.4(JPH2):c.301A>C:p.Ser101Arg	coding	Pathogenic
20	44186550	G	A	G44186550A	JPH2	NM_020433.5(JPH2):c.156C>T:p.Tyr52=	coding	Benign
20	44187679	A	G	A44187679G	JPH2	NM_020433.4(JPH2):c.-974T>C	noncoding	Benign
20	44306762	G	A	G44306762A	FITM2	NM_001080472.4(FITM2):c.652C>T:p.Gln218Ter	coding	Pathogenic
20	44311145	C	A	C44311145A	FITM2	NM_001080472.4(FITM2):c.4G>T:p.Glu2Ter	coding	Pathogenic
20	44355527	G	A	G44355527A	HNF4A	NM_175914.4(HNF4A):c.-278G>A	noncoding	Benign
20	44355529	G	T	G44355529T	HNF4A	NM_175914.4(HNF4A):c.-276G>T	noncoding	Benign
20	44401520	G	A	G44401520A	HNF4A	NM_175914.4(HNF4A):c.50-4538G>A	noncoding	Benign
20	44401795	G	A	G44401795A	HNF4A	NM_175914.4(HNF4A):c.50-4263G>A	noncoding	Benign
20	44406020	T	C	T44406020C	HNF4A	NM_175914.4(HNF4A):c.50-38T>C	noncoding	Benign
20	44406053	C	T	C44406053T	HNF4A	NM_175914.4(HNF4A):c.50-5C>T	noncoding	Benign/Likely_benign
20	44406131	C	T	C44406131T	HNF4A	NM_175914.4(HNF4A):c.123C>T:p.Cys41=	coding	Benign
20	44406143	C	T	C44406143T	HNF4A	NM_175914.4(HNF4A):c.135C>T:p.Ala45=	coding	Benign
20	44406195	C	T	C44406195T	HNF4A	NM_175914.4(HNF4A):c.187C>T:p.Arg63Trp	coding	Pathogenic
20	44406233	G	A	G44406233A	HNF4A	NM_175914.4(HNF4A):c.224+1G>A	coding	Pathogenic
20	44406234	T	C	T44406234C	HNF4A	NM_000457.4(HNF4A):c.290+2T>C	noncoding	Pathogenic
20	44406498	C	T	C44406498T	HNF4A	NM_175914.4(HNF4A):c.224+266C>T	noncoding	Benign
20	44406520	G	C	G44406520C	HNF4A	NM_175914.4(HNF4A):c.224+288G>C	noncoding	Benign
20	44407421	C	T	C44407421T	HNF4A	NM_175914.4(HNF4A):c.265C>T:p.Gln89Ter	coding	Pathogenic
20	44407477	T	C	T44407477C	HNF4A	NM_175914.4(HNF4A):c.319+2T>C	noncoding	Pathogenic
20	44407494	C	T	C44407494T	HNF4A	NM_175914.4(HNF4A):c.319+19C>T	noncoding	Benign
20	44413490	C	G	C44413490G	HNF4A	NM_175914.4(HNF4A):c.320-204C>G	noncoding	Benign
20	44413724	C	T	C44413724T	HNF4A	NM_000457.5(HNF4A):c.416C>T:p.Thr139Ile	coding	Benign/Likely_benign
20	44413743	G	A	G44413743A	HNF4A	NM_175914.4(HNF4A):c.369G>A:p.Glu123=	coding	Benign
20	44413767	T	C	T44413767C	HNF4A	NM_175914.4(HNF4A):c.393T>C:p.Asn131=	coding	Benign/Likely_benign
20	44413777	C	T	C44413777T	HNF4A	NM_175914.4(HNF4A):c.403C>T:p.Gln135Ter	coding	Pathogenic
20	44413782	G	A	G44413782A	HNF4A	NM_175914.4(HNF4A):c.408G>A:p.Ala136=	coding	Benign
20	44413795	C	T	C44413795T	HNF4A	NM_175914.4(HNF4A):c.421C>T:p.Arg141Ter	coding	Pathogenic
20	44413940	C	G	C44413940G	HNF4A	NM_175914.4(HNF4A):c.426+140C>G	noncoding	Benign
20	44414310	A	C	A44414310C	HNF4A	NM_175914.4(HNF4A):c.427-197A>C	noncoding	Benign
20	44414411	C	G	C44414411G	HNF4A	NM_175914.4(HNF4A):c.427-96C>G	noncoding	Benign
20	44414455	G	A	G44414455A	HNF4A	NM_175914.4(HNF4A):c.427-52G>A	noncoding	Benign
20	44414487	C	T	C44414487T	HNF4A	NM_000457.4(HNF4A):c.493-20C>T	noncoding	Benign
20	44414503	G	A	G44414503A	HNF4A	NM_175914.4(HNF4A):c.427-4G>A	noncoding	Benign/Likely_benign
20	44414506	G	A	G44414506A	HNF4A	NM_175914.4(HNF4A):c.427-1G>A	noncoding	Pathogenic
20	44414578	T	A	T44414578A	HNF4A	NM_175914.4(HNF4A):c.498T>A:p.Cys166Ter	coding	Pathogenic
20	44414594	C	T	C44414594T	HNF4A	NM_175914.4(HNF4A):c.514C>T:p.Gln172Ter	coding	Pathogenic
20	44414656	C	T	C44414656T	HNF4A	NM_175914.4(HNF4A):c.576C>T:p.Asp192=	coding	Benign/Likely_benign
20	44414663	G	A	G44414663A	HNF4A	NM_175914.4(HNF4A):c.582+1G>A	coding	Pathogenic
20	44414666	A	G	A44414666G	HNF4A	NM_175914.4(HNF4A):c.582+4A>G	noncoding	Benign/Likely_benign
20	44418398	G	A	G44418398A	HNF4A	NM_000457.4(HNF4A):c.649-27G>A	noncoding	Benign
20	44418511	A	G	A44418511G	HNF4A	NM_175914.4(HNF4A):c.669A>G:p.Leu223=	coding	Benign/Likely_benign
20	44418653	A	G	A44418653G	HNF4A	NM_175914.4(HNF4A):c.670+141A>G	noncoding	Benign
20	44418708	G	A	G44418708A	HNF4A	NM_175914.4(HNF4A):c.670+196G>A	noncoding	Benign
20	44419746	C	T	C44419746T	HNF4A	NM_175914.4(HNF4A):c.696C>T:p.His232=	coding	Benign/Likely_benign
20	44419794	C	T	C44419794T	HNF4A	NM_175914.4(HNF4A):c.744C>T:p.Asp248=	coding	Benign/Likely_benign
20	44419795	G	T	G44419795T	HNF4A	NM_175914.4(HNF4A):c.745G>T:p.Glu249Ter	coding	Pathogenic
20	44419813	C	T	C44419813T	HNF4A	NM_175914.4(HNF4A):c.763C>T:p.Gln255Ter	coding	Pathogenic
20	44420045	A	G	A44420045G	HNF4A	NM_175914.4(HNF4A):c.826+169A>G	noncoding	Benign
20	44423930	T	C	T44423930C	HNF4A	NM_175914.4(HNF4A):c.827-88T>C	noncoding	Benign
20	44424190	C	T	C44424190T	HNF4A	NM_175914.4(HNF4A):c.999C>T:p.Ile333=	coding	Benign
20	44424208	C	T	C44424208T	HNF4A	NM_175914.4(HNF4A):c.1017C>T:p.Phe339=	coding	Benign/Likely_benign
20	44424223	T	A	T44424223A	HNF4A	NM_175914.4(HNF4A):c.1032T>A:p.Ile344=	coding	Benign
20	44424243	T	G	T44424243G	HNF4A	NM_175914.4(HNF4A):c.1052T>G:p.Met351Arg	coding	Pathogenic
20	44428408	C	T	C44428408T	HNF4A	NM_175914.4(HNF4A):c.1137C>T:p.Asn379=	coding	Benign/Likely_benign
20	44429372	A	C	A44429372C	HNF4A	NM_175914.4(HNF4A):c.1217-151A>C	noncoding	Benign
20	44429378	T	C	T44429378C	HNF4A	NM_175914.4(HNF4A):c.1217-145T>C	noncoding	Benign
20	44429456	C	G	C44429456G	HNF4A	NM_175914.4(HNF4A):c.1217-67C>G	noncoding	Benign
20	44429549	C	T	C44429549T	HNF4A	NM_175914.4(HNF4A):c.1243C>T:p.Pro415Ser	coding	Benign/Likely_benign
20	44429672	G	A	G44429672A	HNF4A	NM_000457.5(HNF4A):c.*7G>A	noncoding	Benign
20	44429741	G	T	G44429741T	HNF4A	NM_000457.5(HNF4A):c.*76G>T	noncoding	Benign/Likely_benign
20	44429820	G	A	G44429820A	HNF4A	NM_175914.4(HNF4A):c.*155G>A	noncoding	Benign
20	44429832	T	A	T44429832A	HNF4A	NM_175914.4(HNF4A):c.*167T>A	noncoding	Benign/Likely_benign
20	44429907	T	C	T44429907C	HNF4A	NM_175914.4(HNF4A):c.*242T>C	noncoding	Benign
20	44429942	T	C	T44429942C	HNF4A	NM_175914.4(HNF4A):c.*277T>C	noncoding	Benign/Likely_benign
20	44429970	A	G	A44429970G	HNF4A	NM_175914.4(HNF4A):c.*305A>G	noncoding	Benign
20	44430057	T	G	T44430057G	HNF4A	NM_175914.4(HNF4A):c.*392T>G	noncoding	Benign
20	44430058	G	A	G44430058A	HNF4A	NM_175914.4(HNF4A):c.*393G>A	noncoding	Benign/Likely_benign
20	44430092	G	T	G44430092T	HNF4A	NM_000457.5(HNF4A):c.*427G>T	noncoding	Benign/Likely_benign
20	44430186	G	A	G44430186A	HNF4A	NM_175914.4(HNF4A):c.*521G>A	noncoding	Benign/Likely_benign
20	44430233	G	A	G44430233A	HNF4A	NM_000457.5(HNF4A):c.*568G>A	noncoding	Benign/Likely_benign
20	44430322	G	A	G44430322A	HNF4A	NM_000457.5(HNF4A):c.*657G>A	noncoding	Benign/Likely_benign
20	44430365	T	C	T44430365C	HNF4A	NM_175914.4(HNF4A):c.*700T>C	noncoding	Benign
20	44430450	G	A	G44430450A	HNF4A	NM_000457.5(HNF4A):c.*785G>A	noncoding	Benign/Likely_benign
20	44430571	A	C	A44430571C	HNF4A	NM_175914.4(HNF4A):c.*906A>C	noncoding	Benign
20	44430571	A	T	A44430571T	HNF4A	NM_175914.4(HNF4A):c.*906A>T	noncoding	Benign
20	44430760	G	A	G44430760A	HNF4A	NM_175914.4(HNF4A):c.*1095G>A	noncoding	Benign/Likely_benign
20	44430797	C	T	C44430797T	HNF4A	NM_175914.4(HNF4A):c.*1132C>T	noncoding	Benign
20	44431497	G	A	G44431497A	HNF4A	NM_175914.4(HNF4A):c.*1832G>A	noncoding	Benign
20	44431640	G	A	G44431640A	HNF4A	NM_000457.5(HNF4A):c.*1975G>A	noncoding	Benign/Likely_benign
20	44431847	G	A	G44431847A	HNF4A	NM_175914.4(HNF4A):c.*2182G>A	noncoding	Benign/Likely_benign
20	44431921	C	G	C44431921G	HNF4A	NM_000457.5(HNF4A):c.*2256C>G	noncoding	Benign/Likely_benign
20	44432031	G	C	G44432031C	HNF4A	NM_175914.4(HNF4A):c.*2366G>C	noncoding	Benign
20	44432198	G	A	G44432198A	HNF4A	NM_175914.4(HNF4A):c.*2533G>A	noncoding	Benign
20	44432321	G	A	G44432321A	HNF4A	NM_000457.5(HNF4A):c.*2656G>A	noncoding	Benign/Likely_benign
20	44432451	C	T	C44432451T	HNF4A	NM_000457.5(HNF4A):c.*2786C>T	noncoding	Benign/Likely_benign
20	44432808	G	T	G44432808T	HNF4A	NM_175914.4(HNF4A):c.*3143G>T	noncoding	Benign/Likely_benign
20	44619854	G	A	G44619854A	ADA	NM_000022.4(ADA):c.1079-7C>T	noncoding	Benign
20	44619862	A	T	A44619862T	ADA	NM_000022.4(ADA):c.1079-15T>A	noncoding	Pathogenic
20	44620391	G	A	G44620391A	ADA	NM_000022.4(ADA):c.986C>T:p.Ala329Val	coding	Pathogenic/Likely_pathogenic
20	44620435	C	T	C44620435T	ADA	NM_000022.4(ADA):c.976-34G>A	noncoding	Pathogenic
20	44621017	C	T	C44621017T	ADA	NM_000022.4(ADA):c.975+1G>A	noncoding	Pathogenic
20	44621121	G	A	G44621121A	ADA	NM_000022.4(ADA):c.872C>T:p.Ser291Leu	coding	Pathogenic/Likely_pathogenic
20	44622599	A	G	A44622599G	ADA	NM_000022.4(ADA):c.834T>C:p.His278=	coding	Benign/Likely_benign
20	44622611	C	T	C44622611T	ADA	NM_000022.4(ADA):c.822G>A:p.Pro274=	coding	Benign
20	44622873	G	A	G44622873A	ADA	NM_000022.4(ADA):c.736C>T:p.Gln246Ter	coding	Pathogenic
20	44622905	C	T	C44622905T	ADA	NM_000022.4(ADA):c.704G>A:p.Arg235Gln	coding	Pathogenic/Likely_pathogenic
20	44622906	G	A	G44622906A	ADA	NM_000022.4(ADA):c.703C>T:p.Arg235Trp	coding	Pathogenic/Likely_pathogenic
20	44622911	G	A	G44622911A	ADA	NM_000022.4(ADA):c.698C>T:p.Thr233Ile	coding	Pathogenic
20	44623039	C	T	C44623039T	ADA	NM_000022.4(ADA):c.646G>A:p.Gly216Arg	coding	Pathogenic
20	44623053	C	T	C44623053T	ADA	NM_000022.4(ADA):c.632G>A:p.Arg211His	coding	Pathogenic/Likely_pathogenic
20	44624274	T	C	T44624274C	ADA	NM_000022.4(ADA):c.534A>G:p.Val178=	coding	Benign
20	44624279	C	T	C44624279T	ADA	NM_000022.4(ADA):c.529G>A:p.Val177Met	coding	Pathogenic/Likely_pathogenic
20	44625568	C	T	C44625568T	ADA	NM_000022.4(ADA):c.478+1G>A	noncoding	Pathogenic
20	44625580	C	T	C44625580T	ADA	NM_000022.4(ADA):c.467G>A:p.Arg156His	coding	Pathogenic/Likely_pathogenic
20	44625581	G	A	G44625581A	ADA	NM_000022.4(ADA):c.466C>T:p.Arg156Cys	coding	Pathogenic/Likely_pathogenic
20	44625623	G	A	G44625623A	ADA	NM_000022.4(ADA):c.424C>T:p.Arg142Ter	coding	Pathogenic
20	44625645	G	A	G44625645A	ADA	NM_000022.4(ADA):c.402C>T:p.Gly134=	coding	Benign
20	44625657	C	T	C44625657T	ADA	NM_000022.4(ADA):c.390G>A:p.Val130=	coding	Benign
20	44625662	C	T	C44625662T	ADA	NM_000022.4(ADA):c.385G>A:p.Val129Met	coding	Pathogenic
20	44626498	A	G	A44626498G	ADA	NM_000022.4(ADA):c.320T>C:p.Leu107Pro	coding	Pathogenic/Likely_pathogenic
20	44626516	C	T	C44626516T	ADA	NM_000022.4(ADA):c.302G>A:p.Arg101Gln	coding	Pathogenic
20	44626579	T	C	T44626579C	ADA	NM_000022.4(ADA):c.239A>G:p.Lys80Arg	coding	Benign
20	44629073	C	T	C44629073T	ADA	NM_000022.4(ADA):c.192G>A:p.Lys64=	coding	Benign/Likely_benign
20	44629103	C	T	C44629103T	ADA	NM_000022.4(ADA):c.162G>A:p.Lys54=	coding	Benign/Likely_benign
20	44636218	T	C	T44636218C	ADA	NM_000022.4(ADA):c.95+9A>G	noncoding	Benign/Likely_benign
20	44636226	C	T	C44636226T	ADA	NM_000022.4(ADA):c.95+1G>A	noncoding	Pathogenic
20	44636279	G	C	G44636279C	ADA	NM_000022.4(ADA):c.43C>G:p.His15Asp	coding	Pathogenic/Likely_pathogenic
20	44636286	C	T	C44636286T	ADA	NM_000022.4(ADA):c.36G>A:p.Val12=	coding	Benign
20	44651574	C	G	C44651574G	ADA	NM_000022.4(ADA):c.33+1G>C	noncoding	Pathogenic
20	44651586	C	T	C44651586T	ADA	NM_000022.2(ADA):c.22G>A:p.Asp8Asn	coding	Benign
20	44651601	G	A	G44651601A	ADA	NM_000022.4(ADA):c.7C>T:p.Gln3Ter	coding	Pathogenic
20	44651708	C	T	C44651708T	ADA	NM_001322050.1(ADA):c.-390G>A	noncoding	Benign
20	44720109	C	T	C44720109T	CCN5	NM_001323370.1(CCN5):c.273C>T:p.Cys91=	coding	Benign
20	44724965	C	T	C44724965T	CCN5	NM_001323370.1(CCN5):c.505C>T:p.Leu169=	coding	Benign
20	44771403	C	T	C44771403T	RIMS4	NM_182970.4(RIMS4):c.108G>A:p.Arg36=	coding	Benign
20	44901841	G	A	G44901841A	YWHAB	NM_139323.4(YWHAB):c.300+8G>A	noncoding	Benign
20	44930558	C	T	C44930558T	PABPC1L	NM_001372179.1(PABPC1L):c.1071C>T:p.Ile357=	coding	Benign
20	44981932	C	T	C44981932T	STK4	NM_006282.5(STK4):c.349C>T:p.Arg117Ter	coding	Pathogenic
20	44995081	C	G	C44995081G	STK4	NM_006282.5(STK4):c.526-9C>G	noncoding	Benign
20	44997208	C	T	C44997208T	STK4	NM_006282.5(STK4):c.733C>T:p.Arg245Ter	coding	Pathogenic
20	44997224	G	A	G44997224A	STK4	NM_006282.5(STK4):c.749G>A:p.Trp250Ter	coding	Pathogenic
20	45001270	T	C	T45001270C	STK4	NM_006282.5(STK4):c.1064T>C:p.Ile355Thr	coding	Benign
20	45025072	C	T	C45025072T	STK4	NM_006282.5(STK4):c.1247C>T:p.Pro416Leu	coding	Benign
20	45075056	C	T	C45075056T	STK4	NM_006282.5(STK4):c.1344C>T:p.Leu448=	coding	Benign
20	45094880	T	G	T45094880G	KCNS1	NM_001322799.2(KCNS1):c.1571A>C:p.Gln524Pro	coding	Benign
20	45094928	T	C	T45094928C	KCNS1	NM_001322799.2(KCNS1):c.1523A>G:p.Gln508Arg	coding	Benign
20	45095055	G	A	G45095055A	KCNS1	NM_001322799.2(KCNS1):c.1396C>T:p.Arg466Cys	coding	Benign
20	45097791	G	A	G45097791A	KCNS1	NM_001322799.2(KCNS1):c.981C>T:p.Gly327=	coding	Benign
20	45254192	G	A	G45254192A	RBPJL	NM_003064.4(SLPI):c.85+267C>T	noncoding	Benign
20	45293788	G	T	G45293788T	MATN4	NM_003833.4(MATN4):c.1725C>A:p.Asn575Lys	coding	Benign
20	45293944	G	A	G45293944A	MATN4	NM_003833.4(MATN4):c.1651C>T:p.Arg551Cys	coding	Benign
20	45300990	G	A	G45300990A	MATN4	NM_003833.4(MATN4):c.909C>T:p.Gly303=	coding	Benign
20	45301397	G	A	G45301397A	MATN4	NM_003833.4(MATN4):c.690C>T:p.Cys230=	coding	Benign
20	45303525	G	A	G45303525A	RBPJL	NM_003833.4(MATN4):c.643+703C>T	noncoding	Benign
20	45304776	G	A	G45304776A	MATN4	NM_003833.4(MATN4):c.95C>T:p.Pro32Leu	coding	Benign
20	45307662	C	G	C45307662G	RBPJL	NM_014276.4(RBPJL):c.23-481C>G	noncoding	Benign
20	45309178	T	C	T45309178C	RBPJL	NM_014276.4(RBPJL):c.132-389T>C	noncoding	Benign
20	45309644	G	A	G45309644A	RBPJL	NM_014276.4(RBPJL):c.209G>A:p.Arg70Gln	coding	Benign
20	45314036	T	C	T45314036C	RBPJL	NM_014276.4(RBPJL):c.759T>C:p.Ala253=	coding	Benign
20	45316737	C	A	C45316737A	RBPJL	NM_014276.4(RBPJL):c.1332C>A:p.Ser444Arg	coding	Benign
20	45316738	G	A	G45316738A	RBPJL	NM_014276.4(RBPJL):c.1333G>A:p.Asp445Asn	coding	Benign
20	45316847	T	C	T45316847C	RBPJL	NM_014276.4(RBPJL):c.1442T>C:p.Val481Ala	coding	Benign
20	45319581	A	C	A45319581C	RBPJL	NC_000020.10:g.43948221A>C	noncoding	Benign
20	45324436	T	G	T45324436G	RBPJL	NC_000020.10:g.43953076T>G	noncoding	Benign
20	45328870	G	A	G45328870A	RBPJL	NM_002999.4(SDC4):c.446-1455C>T	noncoding	Benign
20	45330115	G	A	G45330115A	RBPJL	NM_002999.4(SDC4):c.445+251C>T	noncoding	Benign
20	45335648	T	C	T45335648C	RBPJL	NM_002999.4(SDC4):c.199+134A>G	noncoding	Benign
20	45336885	A	G	A45336885G	RBPJL	NM_002999.4(SDC4):c.61-965T>C	noncoding	Benign
20	45416168	T	C	T45416168C	PIGT	NM_015937.6(PIGT):c.12T>C:p.Ala4=	coding	Benign
20	45416579	G	T	G45416579T	PIGT	NM_015937.6(PIGT):c.250G>T:p.Glu84Ter	coding	Pathogenic
20	45418853	G	T	G45418853T	PIGT	NM_015937.6(PIGT):c.367G>T:p.Val123Leu	coding	Benign/Likely_benign
20	45419293	A	G	A45419293G	PIGT	NM_015937.6(PIGT):c.494-2A>G	noncoding	Pathogenic/Likely_pathogenic
20	45419334	G	A	G45419334A	PIGT	NM_015937.6(PIGT):c.533G>A:p.Arg178Gln	coding	Benign
20	45419348	A	C	A45419348C	PIGT	NM_015937.6(PIGT):c.547A>C:p.Thr183Pro	coding	Pathogenic
20	45419584	T	C	T45419584C	PIGT	NM_015937.6(PIGT):c.675T>C:p.Val225=	coding	Benign
20	45420332	A	C	A45420332C	PIGT	NM_015937.6(PIGT):c.770A>C:p.Asp257Ala	coding	Benign
20	45420358	C	T	C45420358T	PIGT	NM_015937.6(PIGT):c.796C>T:p.Arg266Ter	coding	Pathogenic
20	45420397	C	T	C45420397T	PIGT	NM_015937.6(PIGT):c.835C>T:p.Arg279Ter	coding	Pathogenic
20	45420629	C	T	C45420629T	PIGT	NM_015937.6(PIGT):c.969C>T:p.Thr323=	coding	Benign
20	45421410	C	T	C45421410T	PIGT	NM_015937.6(PIGT):c.1061C>T:p.Ala354Val	coding	Benign
20	45421428	G	T	G45421428T	PIGT	NM_015937.6(PIGT):c.1079G>T:p.Gly360Val	coding	Pathogenic/Likely_pathogenic
20	45421445	G	T	G45421445T	PIGT	NM_015937.6(PIGT):c.1096G>T:p.Gly366Trp	coding	Pathogenic
20	45424512	G	A	G45424512A	PIGT	NM_015937.6(PIGT):c.1417G>A:p.Ala473Thr	coding	Benign
20	45425671	G	A	G45425671A	PIGT	NM_015937.6(PIGT):c.1582G>A:p.Val528Met	coding	Pathogenic/Likely_pathogenic
20	45425709	T	C	T45425709C	PIGT	NM_015937.6(PIGT):c.1620T>C:p.Tyr540=	coding	Benign
20	45704466	C	T	C45704466T	WFDC13	NM_172005.2(WFDC13):c.111C>T:p.Pro37=	coding	Benign
20	45891004	G	A	G45891004A	CTSA	NM_000308.3(CTSA):c.-322G>A	noncoding	Benign
20	45891673	C	T	C45891673T	CTSA	NM_000308.3(CTSA):c.159C>T:p.Ile53=	coding	Benign/Likely_benign
20	45891714	A	G	A45891714G	CTSA	NM_000308.3(CTSA):c.200A>G:p.Gln67Arg	coding	Pathogenic
20	45891761	T	C	T45891761C	CTSA	NM_000308.3(CTSA):c.247T>C:p.Trp83Arg	coding	Pathogenic
20	45891916	G	A	G45891916A	CTSA	NM_000308.3(CTSA):c.249G>A:p.Trp83Ter	coding	Pathogenic
20	45891940	C	G	C45891940G	CTSA	NM_000308.3(CTSA):c.273C>G:p.Pro91=	coding	Benign
20	45891990	C	T	C45891990T	CTSA	NM_000308.3(CTSA):c.323C>T:p.Ser108Leu	coding	Pathogenic
20	45892434	G	A	G45892434A	CTSA	NM_000308.3(CTSA):c.448G>A:p.Val150Met	coding	Pathogenic
20	45892498	C	T	C45892498T	CTSA	NM_000308.4(CTSA):c.444+14C>T	noncoding	Benign
20	45893314	A	G	A45893314G	CTSA	NM_000308.3(CTSA):c.746+3A>G	noncoding	Pathogenic
20	45893955	A	G	A45893955G	CTSA	NM_000308.3(CTSA):c.747-33A>G	noncoding	Benign
20	45894002	T	C	T45894002C	CTSA	NM_001127695.1(CTSA):c.707T>C:p.Leu236Pro	coding	Pathogenic
20	45894040	T	A	T45894040A	CTSA	NM_000308.3(CTSA):c.799T>A:p.Tyr267Asn	coding	Pathogenic
20	45894081	C	G	C45894081G	CTSA	NM_000308.3(CTSA):c.831+9C>G	noncoding	Pathogenic
20	45894314	C	T	C45894314T	CTSA	NM_000308.3(CTSA):c.831+242C>T	noncoding	Benign
20	45894833	G	A	G45894833A	CTSA	NM_000308.3(CTSA):c.934G>A:p.Asp312Asn	coding	Benign/Likely_benign
20	45894908	G	A	G45894908A	CTSA	NM_000308.3(CTSA):c.1002+7G>A	noncoding	Benign
20	45895143	C	T	C45895143T	CTSA	NM_000308.3(CTSA):c.1142+10C>T	noncoding	Benign
20	45897736	A	G	A45897736G	CTSA	NM_000308.3(CTSA):c.1238A>G:p.Tyr413Cys	coding	Pathogenic
20	45897769	T	C	T45897769C	CTSA	NM_000308.3(CTSA):c.1271T>C:p.Met424Thr	coding	Pathogenic
20	45898037	G	A	G45898037A	CTSA	NM_000308.4(CTSA):c.1287G>A:p.Lys429=	coding	Benign/Likely_benign
20	45898065	G	A	G45898065A	CTSA	NM_000308.3(CTSA):c.1369G>A:p.Gly457Ser	coding	Pathogenic
20	45898068	T	G	T45898068G	CTSA	NM_000308.3(CTSA):c.1372T>G:p.Phe458Val	coding	Pathogenic
20	45898103	G	A	G45898103A	CTSA	NM_000308.3(CTSA):c.1407G>A:p.Thr469=	coding	Benign
20	45898107	A	G	A45898107G	CTSA	NM_000308.3(CTSA):c.1411A>G:p.Lys471Glu	coding	Pathogenic
20	45898144	G	A	G45898144A	CTSA	NM_000308.3(CTSA):c.1413+35G>A	noncoding	Benign
20	45902261	G	C	G45902261C	PLTP	NM_006227.4(PLTP):c.1175+6C>G	noncoding	Benign
20	45902500	G	A	G45902500A	PLTP	NM_006227.4(PLTP):c.1047C>T:p.Ser349=	coding	Benign
20	45909630	G	T	G45909630T	PLTP	NM_006227.4(PLTP):c.371C>A:p.Ser124Tyr	coding	Benign
20	45949019	G	A	G45949019A	ZNF335	NM_022095.4(ZNF335):c.3963C>T:p.Pro1321=	coding	Benign
20	45949352	G	T	G45949352T	ZNF335	NM_022095.4(ZNF335):c.3800C>A:p.Pro1267Gln	coding	Benign
20	45949365	C	A	C45949365A	ZNF335	NM_022095.4(ZNF335):c.3787G>T:p.Glu1263Ter	coding	Pathogenic
20	45950050	G	A	G45950050A	ZNF335	NM_022095.4(ZNF335):c.3507C>T:p.His1169=	coding	Benign
20	45950068	A	G	A45950068G	ZNF335	NM_022095.4(ZNF335):c.3489T>C:p.Thr1163=	coding	Benign
20	45950075	C	T	C45950075T	ZNF335	NM_022095.4(ZNF335):c.3488-6G>A	noncoding	Benign
20	45950241	G	A	G45950241A	ZNF335	NM_022095.4(ZNF335):c.3465C>T:p.Asp1155=	coding	Benign
20	45950352	G	A	G45950352A	ZNF335	NM_022095.4(ZNF335):c.3354C>T:p.Leu1118=	coding	Benign
20	45950453	C	A	C45950453A	ZNF335	NM_022095.4(ZNF335):c.3332G>T:p.Arg1111Leu	coding	Pathogenic
20	45950453	C	T	C45950453T	ZNF335	NM_022095.4(ZNF335):c.3332G>A:p.Arg1111His	coding	Pathogenic
20	45952149	G	T	G45952149T	ZNF335	NM_022095.4(ZNF335):c.3187C>A:p.Arg1063=	coding	Benign
20	45952156	G	A	G45952156A	ZNF335	NM_022095.4(ZNF335):c.3180C>T:p.Pro1060=	coding	Benign
20	45952350	T	C	T45952350C	ZNF335	NM_022095.4(ZNF335):c.2986A>G:p.Thr996Ala	coding	Benign
20	45952515	C	T	C45952515T	ZNF335	NM_022095.4(ZNF335):c.2821G>A:p.Ala941Thr	coding	Benign
20	45952529	G	A	G45952529A	ZNF335	NM_022095.4(ZNF335):c.2815-8C>T	noncoding	Benign
20	45959351	G	A	G45959351A	ZNF335	NM_022095.4(ZNF335):c.2103C>T:p.His701=	coding	Benign
20	45960478	G	C	G45960478C	ZNF335	NM_022095.4(ZNF335):c.1830C>G:p.Leu610=	coding	Benign/Likely_benign
20	45962062	A	C	A45962062C	ZNF335	NM_022095.4(ZNF335):c.1646+8T>G	noncoding	Benign
20	45963501	T	C	T45963501C	ZNF335	NM_022095.4(ZNF335):c.1505A>G:p.Tyr502Cys	coding	Pathogenic
20	45963607	A	G	A45963607G	ZNF335	NM_022095.4(ZNF335):c.1399T>C:p.Cys467Arg	coding	Pathogenic
20	45965619	A	G	A45965619G	ZNF335	NM_022095.4(ZNF335):c.1102+9T>C	noncoding	Benign/Likely_benign
20	45967623	C	T	C45967623T	ZNF335	NM_022095.4(ZNF335):c.826G>A:p.Ala276Thr	coding	Benign/Likely_benign
20	45967906	G	A	G45967906A	ZNF335	NM_022095.4(ZNF335):c.642C>T:p.Ser214=	coding	Benign
20	45968301	T	C	T45968301C	ZNF335	NM_022095.4(ZNF335):c.504A>G:p.Leu168=	coding	Benign
20	45969659	G	T	G45969659T	ZNF335	NM_022095.4(ZNF335):c.234C>A:p.Asp78Glu	coding	Benign
20	45971308	C	A	C45971308A	ZNF335	NM_022095.4(ZNF335):c.103G>T:p.Val35Leu	coding	Benign
20	46008971	C	T	C46008971T	MMP9	NM_004994.3(MMP9):c.45C>T:p.Gly15=	coding	Benign
20	46008996	C	T	C46008996T	MMP9	NM_004994.3(MMP9):c.70C>T:p.Arg24Cys	coding	Benign/Likely_benign
20	46009039	A	G	A46009039G	MMP9	NM_004994.3(MMP9):c.113A>G:p.Asn38Ser	coding	Benign
20	46010960	C	T	C46010960T	MMP9	NM_004994.3(MMP9):c.559C>T:p.Leu187Phe	coding	Benign/Likely_benign
20	46011053	G	T	G46011053T	MMP9	NM_004994.3(MMP9):c.649+3G>T	noncoding	Benign
20	46011209	G	A	G46011209A	MMP9	NM_004994.3(MMP9):c.716G>A:p.Arg239His	coding	Benign
20	46011586	A	G	A46011586G	MMP9	NM_004994.3(MMP9):c.836A>G:p.Gln279Arg	coding	Benign
20	46011590	C	T	C46011590T	MMP9	NM_004994.3(MMP9):c.840C>T:p.Asp280=	coding	Benign
20	46011722	G	A	G46011722A	MMP9	NM_004994.3(MMP9):c.972G>A:p.Lys324=	coding	Benign
20	46011752	C	T	C46011752T	MMP9	NM_004994.3(MMP9):c.997+5C>T	noncoding	Benign
20	46012320	G	A	G46012320A	MMP9	NM_004994.3(MMP9):c.1174+7G>A	noncoding	Benign
20	46013244	T	A	T46013244A	MMP9	NM_004994.3(MMP9):c.1331-11T>A	noncoding	Benign
20	46013767	G	C	G46013767C	MMP9	NM_004994.3(MMP9):c.1721G>C:p.Arg574Pro	coding	Benign
20	46014194	A	C	A46014194C	MMP9	NM_004994.3(MMP9):c.1821A>C:p.Gly607=	coding	Benign
20	46014472	G	A	G46014472A	MMP9	NM_004994.3(MMP9):c.2003G>A:p.Arg668Gln	coding	Benign
20	46016266	C	T	C46016266T	MMP9	NM_004994.3(MMP9):c.2022C>T:p.Cys674=	coding	Benign
20	46016326	G	A	G46016326A	MMP9	NM_004994.3(MMP9):c.2082G>A:p.Val694=	coding	Benign
20	46016371	C	T	C46016371T	MMP9	NM_004994.3(MMP9):c.*3C>T	noncoding	Benign
20	46016514	T	C	T46016514C	MMP9	NM_004994.3(MMP9):c.*146T>C	noncoding	Benign
20	46029368	C	A	C46029368A	SLC12A5	NM_020708.5(SLC12A5):c.24C>A:p.Cys8Ter	coding	Pathogenic
20	46034991	C	T	C46034991T	SLC12A5	NM_020708.5(SLC12A5):c.96C>T:p.Thr32=	coding	Benign
20	46035010	G	T	G46035010T	SLC12A5	NM_020708.5(SLC12A5):c.115G>T:p.Glu39Ter	coding	Pathogenic
20	46035536	G	C	G46035536C	SLC12A5	NM_020708.5(SLC12A5):c.279+1G>C	coding	Pathogenic
20	46035852	C	A	C46035852A	SLC12A5	NM_020708.5(SLC12A5):c.355C>A:p.Arg119=	coding	Benign
20	46037250	T	C	T46037250C	SLC12A5	NM_020708.5(SLC12A5):c.482-5T>C	noncoding	Benign
20	46037307	T	C	T46037307C	SLC12A5	NM_020708.5(SLC12A5):c.534T>C:p.Gly178=	coding	Benign
20	46037345	C	T	C46037345T	SLC12A5	NM_020708.5(SLC12A5):c.572C>T:p.Ala191Val	coding	Pathogenic
20	46041337	T	A	T46041337A	SLC12A5	NM_020708.5(SLC12A5):c.863T>A:p.Leu288His	coding	Pathogenic
20	46041427	G	C	G46041427C	SLC12A5	NM_020708.5(SLC12A5):c.953G>C:p.Trp318Ser	coding	Pathogenic
20	46041441	T	C	T46041441C	SLC12A5	NM_020708.5(SLC12A5):c.967T>C:p.Ser323Pro	coding	Pathogenic
20	46043213	C	T	C46043213T	SLC12A5	NM_020708.5(SLC12A5):c.1127C>T:p.Ser376Leu	coding	Pathogenic
20	46043236	C	G	C46043236G	SLC12A5	NM_020708.5(SLC12A5):c.1150C>G:p.Pro384Ala	coding	Benign
20	46043241	C	T	C46043241T	SLC12A5	NM_020708.5(SLC12A5):c.1155C>T:p.Ile385=	coding	Benign
20	46043275	A	T	A46043275T	SLC12A5	NM_020708.5(SLC12A5):c.1189A>T:p.Thr397Ser	coding	Benign/Likely_benign
20	46043294	T	C	T46043294C	SLC12A5	NM_020708.5(SLC12A5):c.1208T>C:p.Leu403Pro	coding	Pathogenic
20	46043638	A	G	A46043638G	SLC12A5	NM_020708.5(SLC12A5):c.1243A>G:p.Met415Val	coding	Pathogenic
20	46045002	C	T	C46045002T	SLC12A5	NM_020708.5(SLC12A5):c.1431C>T:p.Gly477=	coding	Benign
20	46045083	G	A	G46045083A	SLC12A5	NM_020708.5(SLC12A5):c.1512G>A:p.Thr504=	coding	Benign
20	46045891	G	A	G46045891A	SLC12A5	NM_020708.5(SLC12A5):c.1583G>A:p.Gly528Asp	coding	Pathogenic
20	46046344	C	T	C46046344T	SLC12A5	NM_020708.5(SLC12A5):c.1695C>T:p.Phe565=	coding	Benign
20	46048029	G	A	G46048029A	SLC12A5	NM_020708.5(SLC12A5):c.1956G>A:p.Ala652=	coding	Benign
20	46048088	T	A	T46048088A	SLC12A5	NM_020708.5(SLC12A5):c.2012+3T>A	noncoding	Benign
20	46049727	C	T	C46049727T	SLC12A5	NM_020708.5(SLC12A5):c.2118C>T:p.Ile706=	coding	Benign
20	46051785	G	T	G46051785T	SLC12A5	NM_020708.5(SLC12A5):c.2292G>T:p.Gly764=	coding	Benign
20	46052982	C	T	C46052982T	SLC12A5	NM_020708.5(SLC12A5):c.2403C>T:p.Gly801=	coding	Benign
20	46053600	G	T	G46053600T	SLC12A5	NM_020708.5(SLC12A5):c.2570G>T:p.Arg857Leu	coding	Pathogenic
20	46056167	T	C	T46056167C	SLC12A5	NM_020708.5(SLC12A5):c.2805T>C:p.Asp935=	coding	Benign
20	46063531	T	G	T46063531G	NCOA5	NM_020967.3(NCOA5):c.979A>C:p.Arg327=	coding	Benign
20	46118303	C	T	C46118303T	CD40	NM_001250.5(CD40):c.-41C>T	noncoding	Benign
20	46118343	T	C	T46118343C	CD40	NM_001250.6(CD40):c.-1T>C	noncoding	Benign
20	46122349	T	C	T46122349C	CD40	NM_001250.6(CD40):c.247T>C:p.Cys83Arg	coding	Pathogenic
20	46122360	T	C	T46122360C	CD40	NM_001250.6(CD40):c.256+2T>C	noncoding	Pathogenic
20	46122608	A	T	A46122608T	CD40	NM_001250.6(CD40):c.257-2A>T	noncoding	Pathogenic
20	46122724	C	T	C46122724T	CD40	NM_001250.6(CD40):c.371C>T:p.Ser124Leu	coding	Benign
20	46122776	A	G	A46122776G	CD40	NM_001250.6(CD40):c.403+20A>G	noncoding	Benign/Likely_benign
20	46128184	C	T	C46128184T	CD40	NM_001250.6(CD40):c.606C>T:p.Phe202=	coding	Benign
20	46128885	C	G	C46128885G	CD40	NM_001250.6(CD40):c.679C>G:p.Pro227Ala	coding	Benign
20	46128887	C	T	C46128887T	CD40	NM_001250.6(CD40):c.681C>T:p.Pro227=	coding	Benign
20	46128923	C	T	C46128923T	CD40	NM_001250.6(CD40):c.717C>T:p.Pro239=	coding	Benign/Likely_benign
20	46129175	C	G	C46129175G	CD40	NM_001250.6(CD40):c.*135C>G	noncoding	Benign
20	46129356	G	C	G46129356C	CD40	NM_001250.6(CD40):c.*316G>C	noncoding	Benign
20	46177989	G	A	G46177989A	CDH22	NM_021248.3(CDH22):c.1872C>T:p.Pro624=	coding	Benign
20	46370526	C	G	C46370526G	ELMO2	NM_133171.5(ELMO2):c.1802-1G>C	coding	Pathogenic
20	46374572	C	T	C46374572T	ELMO2	NM_133171.5(ELMO2):c.1134G>A:p.Leu378=	coding	Benign
20	46375235	C	T	C46375235T	ELMO2	NM_133171.5(ELMO2):c.1065+1G>A	noncoding	Pathogenic
20	46560189	C	T	C46560189T	SLC13A3	NM_022829.6(SLC13A3):c.1642G>A:p.Gly548Ser	coding	Pathogenic
20	46589157	T	C	T46589157C	SLC13A3	NM_022829.6(SLC13A3):c.1016+3A>G	noncoding	Pathogenic
20	46596190	G	T	G46596190T	SLC13A3	NM_022829.6(SLC13A3):c.761C>A:p.Ala254Asp	coding	Pathogenic
20	46686787	C	A	C46686787A	TP53RK	NM_033550.4(TP53RK):c.728G>T:p.Arg243Leu	coding	Pathogenic
20	46687082	T	C	T46687082C	TP53RK	NM_033550.4(TP53RK):c.433A>G:p.Thr145Ala	coding	Benign
20	46687111	G	A	G46687111A	TP53RK	NM_033550.4(TP53RK):c.404C>T:p.Thr135Ile	coding	Benign
20	46689173	G	C	G46689173C	TP53RK	NM_033550.4(TP53RK):c.242C>G:p.Thr81Arg	coding	Pathogenic
20	46689290	C	T	C46689290T	TP53RK	NM_033550.4(TP53RK):c.125G>A:p.Gly42Asp	coding	Pathogenic
20	46689392	G	A	G46689392A	TP53RK	NM_033550.4(TP53RK):c.23C>T:p.Thr8Met	coding	Benign
20	46709710	C	T	C46709710T	SLC2A10	NM_030777.4(SLC2A10):c.-27C>T	noncoding	Benign
20	46725273	C	T	C46725273T	SLC2A10	NM_030777.4(SLC2A10):c.237C>T:p.Leu79=	coding	Benign/Likely_benign
20	46725279	C	G	C46725279G	SLC2A10	NM_030777.4(SLC2A10):c.243C>G:p.Ser81Arg	coding	Pathogenic/Likely_pathogenic
20	46725352	G	T	G46725352T	SLC2A10	NM_030777.4(SLC2A10):c.316G>T:p.Ala106Ser	coding	Benign
20	46725402	C	T	C46725402T	SLC2A10	NM_030777.4(SLC2A10):c.366C>T:p.Tyr122=	coding	Benign/Likely_benign
20	46725453	T	A	T46725453A	SLC2A10	NM_030777.4(SLC2A10):c.417T>A:p.Tyr139Ter	coding	Pathogenic
20	46725461	G	T	G46725461T	SLC2A10	NM_030777.4(SLC2A10):c.425G>T:p.Gly142Val	coding	Pathogenic
20	46725546	G	A	G46725546A	SLC2A10	NM_030777.4(SLC2A10):c.510G>A:p.Trp170Ter	coding	Pathogenic
20	46725652	G	A	G46725652A	SLC2A10	NM_030777.4(SLC2A10):c.616G>A:p.Ala206Thr	coding	Benign/Likely_benign
20	46725666	C	T	C46725666T	SLC2A10	NM_030777.4(SLC2A10):c.630C>T:p.Gly210=	coding	Benign/Likely_benign
20	46725684	C	G	C46725684G	SLC2A10	NM_030777.4(SLC2A10):c.648C>G:p.Tyr216Ter	coding	Pathogenic
20	46725721	C	T	C46725721T	SLC2A10	NM_030777.4(SLC2A10):c.685C>T:p.Arg229Ter	coding	Pathogenic
20	46725773	G	A	G46725773A	SLC2A10	NM_030777.4(SLC2A10):c.737G>A:p.Gly246Glu	coding	Pathogenic
20	46725782	A	G	A46725782G	SLC2A10	NM_030777.4(SLC2A10):c.746A>G:p.Asn249Ser	coding	Benign
20	46725792	C	A	C46725792A	SLC2A10	NM_030777.4(SLC2A10):c.756C>A:p.Cys252Ter	coding	Pathogenic
20	46726044	C	T	C46726044T	SLC2A10	NM_030777.4(SLC2A10):c.1008C>T:p.Thr336=	coding	Benign/Likely_benign
20	46726190	C	G	C46726190G	SLC2A10	NM_030777.4(SLC2A10):c.1154C>G:p.Ala385Gly	coding	Benign
20	46726248	G	T	G46726248T	SLC2A10	NM_030777.4(SLC2A10):c.1212G>T:p.Gly404=	coding	Benign/Likely_benign
20	46726312	G	T	G46726312T	SLC2A10	NM_030777.4(SLC2A10):c.1276G>T:p.Gly426Trp	coding	Pathogenic/Likely_pathogenic
20	46726334	G	A	G46726334A	SLC2A10	NM_030777.4(SLC2A10):c.1288+10G>A	noncoding	Benign
20	46726858	C	T	C46726858T	SLC2A10	NM_030777.4(SLC2A10):c.1289-6C>T	noncoding	Benign/Likely_benign
20	46726905	C	T	C46726905T	SLC2A10	NM_030777.4(SLC2A10):c.1330C>T:p.Arg444Ter	coding	Pathogenic/Likely_pathogenic
20	46726909	G	A	G46726909A	SLC2A10	NM_030777.4(SLC2A10):c.1334G>A:p.Gly445Glu	coding	Pathogenic
20	46726987	G	A	G46726987A	SLC2A10	NM_030777.4(SLC2A10):c.1411+1G>A	coding	Pathogenic
20	46727162	G	C	G46727162C	SLC2A10	NM_030777.4(SLC2A10):c.1411+176G>C	noncoding	Benign
20	46729239	A	G	A46729239G	SLC2A10	NM_030777.4(SLC2A10):c.1412-114A>G	noncoding	Benign
20	46729482	A	G	A46729482G	SLC2A10	NM_030777.4(SLC2A10):c.1541A>G:p.Lys514Arg	coding	Benign
20	46729506	T	G	T46729506G	SLC2A10	NM_030777.4(SLC2A10):c.1547+18T>G	noncoding	Benign
20	46729584	C	T	C46729584T	SLC2A10	NM_030777.4(SLC2A10):c.1547+96C>T	noncoding	Benign
20	46733738	G	A	G46733738A	SLC2A10	NM_030777.4(SLC2A10):c.1548-18G>A	noncoding	Benign
20	46733756	G	T	G46733756T	SLC2A10	NM_030777.4(SLC2A10):c.1548G>T:p.Arg516=	coding	Benign/Likely_benign
20	46733760	A	G	A46733760G	SLC2A10	NM_030777.4(SLC2A10):c.1552A>G:p.Thr518Ala	coding	Benign
20	46733801	G	A	G46733801A	SLC2A10	NM_030777.4(SLC2A10):c.1593G>A:p.Pro531=	coding	Benign/Likely_benign
20	46733817	A	G	A46733817G	SLC2A10	NM_030777.4(SLC2A10):c.1609A>G:p.Ile537Val	coding	Benign
20	46733825	G	A	G46733825A	SLC2A10	NM_030777.4(SLC2A10):c.1617G>A:p.Ala539=	coding	Benign
20	46733866	T	C	T46733866C	SLC2A10	NM_030777.4(SLC2A10):c.*32T>C	noncoding	Benign
20	46733884	T	C	T46733884C	SLC2A10	NM_030777.4(SLC2A10):c.*50T>C	noncoding	Benign
20	46733890	A	G	A46733890G	SLC2A10	NM_030777.4(SLC2A10):c.*56A>G	noncoding	Benign
20	46733977	G	A	G46733977A	SLC2A10	NM_030777.4(SLC2A10):c.*143G>A	noncoding	Benign
20	46734114	C	T	C46734114T	SLC2A10	NM_030777.4(SLC2A10):c.*280C>T	noncoding	Benign
20	46734168	A	G	A46734168G	SLC2A10	NM_030777.4(SLC2A10):c.*334A>G	noncoding	Benign
20	46734643	C	T	C46734643T	SLC2A10	NM_030777.4(SLC2A10):c.*809C>T	noncoding	Benign
20	46734792	C	T	C46734792T	SLC2A10	NM_030777.4(SLC2A10):c.*958C>T	noncoding	Benign
20	46734934	T	G	T46734934G	SLC2A10	NM_030777.4(SLC2A10):c.*1100T>G	noncoding	Benign
20	46735127	T	C	T46735127C	SLC2A10	NM_030777.4(SLC2A10):c.*1293T>C	noncoding	Benign
20	46736010	T	C	T46736010C	SLC2A10	NM_030777.4(SLC2A10):c.*2176T>C	noncoding	Benign
20	46736119	T	G	T46736119G	SLC2A10	NM_030777.4(SLC2A10):c.*2285T>G	noncoding	Benign
20	46736199	T	A	T46736199A	SLC2A10	NM_030777.4(SLC2A10):c.*2365T>A	noncoding	Benign
20	47005063	G	A	G47005063A	EYA2	NM_005244.5(EYA2):c.277G>A:p.Ala93Thr	coding	Benign
20	47089289	A	G	A47089289G	EYA2	NM_005244.5(EYA2):c.712A>G:p.Thr238Ala	coding	Benign
20	47239110	C	T	C47239110T	ZMYND8	NM_001281775.3(ZMYND8):c.2313G>A:p.Thr771=	coding	Benign
20	47249374	C	G	C47249374G	ZMYND8	NM_001281775.3(ZMYND8):c.1687G>C:p.Val563Leu	coding	Benign
20	47276304	C	T	C47276304T	ZMYND8	NM_001281775.3(ZMYND8):c.1480+10G>A	noncoding	Benign
20	47282110	T	C	T47282110C	ZMYND8	NM_001281775.3(ZMYND8):c.990A>G:p.Gln330=	coding	Benign
20	47291786	G	A	G47291786A	ZMYND8	NM_001281775.3(ZMYND8):c.660+10C>T	noncoding	Benign
20	47636061	C	T	C47636061T	NCOA3	NM_181659.3(NCOA3):c.1675C>T:p.Pro559Ser	coding	Benign
20	47664166	C	T	C47664166T	SULF2	NM_001161841.1(SULF2):c.2021G>A:p.Arg674His	coding	Benign
20	47666256	T	C	T47666256C	SULF2	NM_001161841.1(SULF2):c.1805+4A>G	noncoding	Benign
20	47666430	G	A	G47666430A	SULF2	NM_001161841.1(SULF2):c.1635C>T:p.Asp545=	coding	Benign
20	47684446	G	A	G47684446A	SULF2	NM_001161841.1(SULF2):c.873C>T:p.Asp291=	coding	Benign
20	48627879	C	T	C48627879T	PREX1	NM_020820.4(PREX1):c.4851G>A:p.Thr1617=	coding	Benign
20	48632347	C	A	C48632347A	PREX1	NM_020820.4(PREX1):c.4456G>T:p.Ala1486Ser	coding	Benign
20	48632539	C	T	C48632539T	PREX1	NM_020820.4(PREX1):c.4368G>A:p.Glu1456=	coding	Benign
20	48636586	G	A	G48636586A	PREX1	NM_020820.4(PREX1):c.4044C>T:p.Tyr1348=	coding	Benign
20	48649380	G	A	G48649380A	PREX1	NM_020820.4(PREX1):c.3225C>T:p.Ile1075=	coding	Benign
20	48651555	C	G	C48651555G	PREX1	NM_020820.4(PREX1):c.2496G>C:p.Arg832=	coding	Benign
20	48666323	C	T	C48666323T	PREX1	NM_020820.4(PREX1):c.1698G>A:p.Ala566=	coding	Benign
20	48921560	A	G	A48921560G	ARFGEF2	NC_000020.11:g.48921560A>G	noncoding	Benign
20	48921796	C	T	C48921796T	ARFGEF2	NM_006420.3(ARFGEF2):c.-94C>T	noncoding	Benign
20	48921970	C	G	C48921970G	ARFGEF2	NM_006420.3(ARFGEF2):c.81C>G:p.Pro27=	coding	Benign
20	48951264	C	T	C48951264T	ARFGEF2	NM_006420.3(ARFGEF2):c.277-59C>T	noncoding	Benign
20	48951472	A	G	A48951472G	ARFGEF2	NM_006420.3(ARFGEF2):c.423+3A>G	noncoding	Benign/Likely_benign
20	48952575	C	A	C48952575A	ARFGEF2	NM_006420.3(ARFGEF2):c.424-130C>A	noncoding	Benign
20	48952689	C	T	C48952689T	ARFGEF2	NM_006420.3(ARFGEF2):c.424-16C>T	noncoding	Benign
20	48963810	A	G	A48963810G	ARFGEF2	NM_006420.3(ARFGEF2):c.839-20A>G	noncoding	Benign
20	48965588	T	C	T48965588C	ARFGEF2	NM_006420.3(ARFGEF2):c.908-284T>C	noncoding	Benign
20	48965592	G	A	G48965592A	ARFGEF2	NM_006420.3(ARFGEF2):c.908-280G>A	noncoding	Benign
20	48965603	G	A	G48965603A	ARFGEF2	NM_006420.3(ARFGEF2):c.908-269G>A	noncoding	Benign
20	48966248	T	A	T48966248A	ARFGEF2	NM_006420.3(ARFGEF2):c.1059+225T>A	noncoding	Benign
20	48969105	T	C	T48969105C	ARFGEF2	NM_006420.3(ARFGEF2):c.1060-42T>C	noncoding	Benign
20	48971327	T	C	T48971327C	ARFGEF2	NM_006420.3(ARFGEF2):c.1398T>C:p.Phe466=	coding	Benign/Likely_benign
20	48971365	C	T	C48971365T	ARFGEF2	NM_006420.3(ARFGEF2):c.1425+11C>T	noncoding	Benign/Likely_benign
20	48971620	G	C	G48971620C	ARFGEF2	NM_006420.3(ARFGEF2):c.1425+266G>C	noncoding	Benign
20	48972412	G	A	G48972412A	ARFGEF2	NM_006420.3(ARFGEF2):c.1512G>A:p.Thr504=	coding	Benign/Likely_benign
20	48972585	T	C	T48972585C	ARFGEF2	NM_006420.3(ARFGEF2):c.1525+160T>C	noncoding	Benign
20	48974545	C	A	C48974545A	ARFGEF2	NM_006420.3(ARFGEF2):c.1666-221C>A	noncoding	Benign
20	48976200	G	A	G48976200A	ARFGEF2	NM_006420.3(ARFGEF2):c.1958+1G>A	coding	Pathogenic
20	48988288	G	A	G48988288A	ARFGEF2	NM_006420.3(ARFGEF2):c.2277-16G>A	noncoding	Benign
20	48989075	C	A	C48989075A	ARFGEF2	NM_006420.3(ARFGEF2):c.2534-210C>A	noncoding	Benign
20	49005017	G	A	G49005017A	ARFGEF2	NM_006420.3(ARFGEF2):c.3433-53G>A	noncoding	Benign
20	49009948	G	C	G49009948C	ARFGEF2	NM_006420.3(ARFGEF2):c.3585-284G>C	noncoding	Benign
20	49010310	T	C	T49010310C	ARFGEF2	NM_006420.3(ARFGEF2):c.3663T>C:p.Gly1221=	coding	Benign
20	49011633	T	C	T49011633C	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-291T>C	noncoding	Benign
20	49011662	A	G	A49011662G	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-262A>G	noncoding	Benign
20	49011826	G	A	G49011826A	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-98G>A	noncoding	Benign
20	49011922	A	C	A49011922C	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-2A>C	noncoding	Pathogenic
20	49013285	C	T	C49013285T	ARFGEF2	NM_006420.3(ARFGEF2):c.3919-279C>T	noncoding	Benign
20	49013912	C	T	C49013912T	ARFGEF2	NM_006420.3(ARFGEF2):c.4131C>T:p.Ile1377=	coding	Benign
20	49016020	C	G	C49016020G	ARFGEF2	NM_006420.3(ARFGEF2):c.4180-260C>G	noncoding	Benign
20	49016217	A	G	A49016217G	ARFGEF2	NM_006420.3(ARFGEF2):c.4180-63A>G	noncoding	Benign
20	49016312	C	T	C49016312T	ARFGEF2	NM_006420.3(ARFGEF2):c.4212C>T:p.His1404=	coding	Benign/Likely_benign
20	49018802	A	G	A49018802G	ARFGEF2	NM_006420.3(ARFGEF2):c.4510-82A>G	noncoding	Benign
20	49023200	A	G	A49023200G	ARFGEF2	NM_006420.3(ARFGEF2):c.4755+19A>G	noncoding	Benign
20	49023454	A	G	A49023454G	ARFGEF2	NM_006420.3(ARFGEF2):c.4755+273A>G	noncoding	Benign
20	49023492	T	A	T49023492A	ARFGEF2	NM_006420.3(ARFGEF2):c.4755+311T>A	noncoding	Benign
20	49032988	T	C	T49032988C	ARFGEF2	NM_006420.3(ARFGEF2):c.5182-35T>C	noncoding	Benign
20	49033095	C	T	C49033095T	ARFGEF2	NM_006420.3(ARFGEF2):c.5254C>T:p.Arg1752Ter	coding	Pathogenic
20	49033436	A	G	A49033436G	ARFGEF2	NM_006420.3(ARFGEF2):c.*237A>G	noncoding	Benign
20	49033693	G	A	G49033693A	ARFGEF2	NM_006420.3(ARFGEF2):c.*494G>A	noncoding	Benign
20	49034955	G	A	G49034955A	ARFGEF2	NM_006420.3(ARFGEF2):c.*1756G>A	noncoding	Benign
20	49035717	A	G	A49035717G	ARFGEF2	NM_006420.3(ARFGEF2):c.*2518A>G	noncoding	Benign
20	49035801	A	G	A49035801G	ARFGEF2	NM_006420.3(ARFGEF2):c.*2602A>G	noncoding	Benign
20	49153924	A	C	A49153924C	STAU1	NM_001322932.1(STAU1):c.344+9T>G	noncoding	Benign
20	49223432	A	G	A49223432G	DDX27	NM_017895.7(DDX27):c.558A>G:p.Ala186=	coding	Benign
20	49225113	G	A	G49225113A	DDX27	NM_017895.7(DDX27):c.607G>A:p.Glu203Lys	coding	Benign
20	49228725	C	T	C49228725T	DDX27	NM_017895.7(DDX27):c.810C>T:p.Ala270=	coding	Benign
20	49249307	C	T	C49249307T	ZNFX1	NM_021035.3(ZNFX1):c.3717G>A:p.Lys1239=	coding	Benign
20	49249387	T	C	T49249387C	ZNFX1	NM_021035.3(ZNFX1):c.3637A>G:p.Ile1213Val	coding	Benign
20	49257441	C	T	C49257441T	ZNFX1	NM_021035.3(ZNFX1):c.2640G>A:p.Gln880=	coding	Benign
20	49372990	C	T	C49372990T	KCNB1	NM_004975.4(KCNB1):c.2570G>A:p.Ser857Asn	coding	Benign
20	49373087	G	A	G49373087A	KCNB1	NM_004975.4(KCNB1):c.2473C>T:p.Pro825Ser	coding	Benign
20	49373089	C	T	C49373089T	KCNB1	NM_004975.4(KCNB1):c.2471G>A:p.Gly824Asp	coding	Benign
20	49373105	C	T	C49373105T	KCNB1	NM_004975.4(KCNB1):c.2455G>A:p.Ala819Thr	coding	Benign
20	49373118	A	C	A49373118C	KCNB1	NM_004975.4(KCNB1):c.2442T>G:p.Ile814Met	coding	Benign/Likely_benign
20	49373143	G	A	G49373143A	KCNB1	NM_004975.4(KCNB1):c.2417C>T:p.Pro806Leu	coding	Benign
20	49373197	G	A	G49373197A	KCNB1	NM_004975.4(KCNB1):c.2363C>T:p.Thr788Met	coding	Benign
20	49373197	G	T	G49373197T	KCNB1	NM_004975.4(KCNB1):c.2363C>A:p.Thr788Lys	coding	Benign
20	49373226	G	A	G49373226A	KCNB1	NM_004975.4(KCNB1):c.2334C>T:p.Leu778=	coding	Benign
20	49373240	G	T	G49373240T	KCNB1	NM_004975.4(KCNB1):c.2320C>A:p.Pro774Thr	coding	Benign
20	49373288	C	T	C49373288T	KCNB1	NM_004975.4(KCNB1):c.2272G>A:p.Ala758Thr	coding	Benign
20	49373454	C	T	C49373454T	KCNB1	NM_004975.4(KCNB1):c.2106G>A:p.Ala702=	coding	Benign
20	49373455	G	T	G49373455T	KCNB1	NM_004975.4(KCNB1):c.2105C>A:p.Ala702Glu	coding	Benign
20	49373501	C	T	C49373501T	KCNB1	NM_004975.4(KCNB1):c.2059G>A:p.Val687Ile	coding	Benign
20	49373563	G	A	G49373563A	KCNB1	NM_004975.4(KCNB1):c.1997C>T:p.Pro666Leu	coding	Benign/Likely_benign
20	49373699	C	A	C49373699A	KCNB1	NM_004975.4(KCNB1):c.1861G>T:p.Ala621Ser	coding	Benign
20	49373713	G	A	G49373713A	KCNB1	NM_004975.4(KCNB1):c.1847C>T:p.Thr616Ile	coding	Benign
20	49373713	G	C	G49373713C	KCNB1	NM_004975.4(KCNB1):c.1847C>G:p.Thr616Ser	coding	Benign
20	49373723	G	A	G49373723A	KCNB1	NM_004975.4(KCNB1):c.1837C>T:p.Pro613Ser	coding	Benign
20	49373813	G	A	G49373813A	KCNB1	NM_004975.4(KCNB1):c.1747C>T:p.Arg583Ter	coding	Pathogenic/Likely_pathogenic
20	49373836	C	T	C49373836T	KCNB1	NM_004975.4(KCNB1):c.1724G>A:p.Arg575His	coding	Benign
20	49373855	C	T	C49373855T	KCNB1	NM_004975.4(KCNB1):c.1705G>A:p.Val569Ile	coding	Benign
20	49373905	G	A	G49373905A	KCNB1	NM_004975.4(KCNB1):c.1655C>T:p.Ala552Val	coding	Benign
20	49373984	C	T	C49373984T	KCNB1	NM_004975.4(KCNB1):c.1576G>A:p.Val526Ile	coding	Benign/Likely_benign
20	49374032	C	A	C49374032A	KCNB1	NM_004975.4(KCNB1):c.1528G>T:p.Gly510Ter	coding	Pathogenic
20	49374171	A	T	A49374171T	KCNB1	NM_004975.4(KCNB1):c.1389T>A:p.Ile463=	coding	Benign
20	49374193	C	T	C49374193T	KCNB1	NM_004975.4(KCNB1):c.1367G>A:p.Arg456Gln	coding	Benign/Likely_benign
20	49374263	G	A	G49374263A	KCNB1	NM_004975.4(KCNB1):c.1297C>T:p.Arg433Ter	coding	Pathogenic/Likely_pathogenic
20	49374264	C	T	C49374264T	KCNB1	NM_004975.4(KCNB1):c.1296G>A:p.Arg432=	coding	Benign
20	49374312	G	T	G49374312T	KCNB1	NM_004975.4(KCNB1):c.1248C>A:p.Phe416Leu	coding	Pathogenic
20	49374359	C	T	C49374359T	KCNB1	NM_004975.4(KCNB1):c.1201G>A:p.Gly401Arg	coding	Pathogenic
20	49374378	C	T	C49374378T	KCNB1	NM_004975.4(KCNB1):c.1182G>A:p.Gly394=	coding	Benign
20	49374407	G	T	G49374407T	KCNB1	NM_004975.4(KCNB1):c.1153C>A:p.Pro385Thr	coding	Pathogenic/Likely_pathogenic
20	49374416	C	G	C49374416G	KCNB1	NM_004975.4(KCNB1):c.1144G>C:p.Asp382His	coding	Pathogenic
20	49374418	C	T	C49374418T	KCNB1	NM_004975.4(KCNB1):c.1142G>A:p.Gly381Glu	coding	Pathogenic
20	49374425	C	T	C49374425T	KCNB1	NM_004975.4(KCNB1):c.1135G>A:p.Gly379Arg	coding	Pathogenic
20	49374427	A	G	A49374427G	KCNB1	NM_004975.4(KCNB1):c.1133T>C:p.Val378Ala	coding	Pathogenic
20	49374428	C	G	C49374428G	KCNB1	NM_004975.4(KCNB1):c.1132G>C:p.Val378Leu	coding	Pathogenic
20	49374430	G	T	G49374430T	KCNB1	NM_004975.4(KCNB1):c.1130C>A:p.Thr377Asn	coding	Pathogenic
20	49374439	G	A	G49374439A	KCNB1	NM_004975.4(KCNB1):c.1121C>T:p.Thr374Ile	coding	Pathogenic
20	49374445	G	A	G49374445A	KCNB1	NM_004975.4(KCNB1):c.1115C>T:p.Thr372Ile	coding	Pathogenic
20	49374451	C	T	C49374451T	KCNB1	NM_004975.4(KCNB1):c.1109G>A:p.Trp370Ter	coding	Pathogenic
20	49374452	A	G	A49374452G	KCNB1	NM_004975.4(KCNB1):c.1108T>C:p.Trp370Arg	coding	Pathogenic
20	49374454	C	T	C49374454T	KCNB1	NM_004975.4(KCNB1):c.1106G>A:p.Trp369Ter	coding	Pathogenic
20	49374515	C	A	C49374515A	KCNB1	NM_004975.4(KCNB1):c.1045G>T:p.Val349Phe	coding	Pathogenic
20	49374519	G	C	G49374519C	KCNB1	NM_004975.4(KCNB1):c.1041C>G:p.Ser347Arg	coding	Pathogenic
20	49374519	G	T	G49374519T	KCNB1	NM_004975.4(KCNB1):c.1041C>A:p.Ser347Arg	coding	Pathogenic/Likely_pathogenic
20	49374576	G	C	G49374576C	KCNB1	NM_004975.4(KCNB1):c.984C>G:p.Tyr328Ter	coding	Pathogenic
20	49374625	C	T	C49374625T	KCNB1	NM_004975.4(KCNB1):c.935G>A:p.Arg312His	coding	Pathogenic/Likely_pathogenic
20	49374626	G	A	G49374626A	KCNB1	NM_004975.4(KCNB1):c.934C>T:p.Arg312Cys	coding	Pathogenic/Likely_pathogenic
20	49374917	G	A	G49374917A	KCNB1	NM_004975.4(KCNB1):c.643C>T:p.Gln215Ter	coding	Pathogenic/Likely_pathogenic
20	49374931	G	A	G49374931A	KCNB1	NM_004975.4(KCNB1):c.629C>T:p.Thr210Met	coding	Pathogenic/Likely_pathogenic
20	49374931	G	C	G49374931C	KCNB1	NM_004975.4(KCNB1):c.629C>G:p.Thr210Arg	coding	Pathogenic
20	49375010	T	C	T49375010C	KCNB1	NM_004975.4(KCNB1):c.568-18A>G	noncoding	Benign
20	49482106	G	A	G49482106A	KCNB1	NM_004975.4(KCNB1):c.375C>T:p.Asp125=	coding	Benign/Likely_benign
20	49482283	G	A	G49482283A	KCNB1	NM_004975.4(KCNB1):c.198C>T:p.His66=	coding	Benign
20	49482304	C	T	C49482304T	KCNB1	NM_004975.4(KCNB1):c.177G>A:p.Lys59=	coding	Benign
20	49511026	A	G	A49511026G	PTGIS	NM_000961.4(PTGIS):c.1358+2T>C	noncoding	Pathogenic
20	49524207	G	A	G49524207A	PTGIS	NM_000961.4(PTGIS):c.706C>T:p.Arg236Cys	coding	Benign
20	49639776	G	A	G49639776A	B4GALT5	NM_004776.4(B4GALT5):c.819C>T:p.Gly273=	coding	Benign
20	49642593	G	A	G49642593A	B4GALT5	NM_004776.4(B4GALT5):c.490-9C>T	noncoding	Benign
20	49656596	G	A	G49656596A	B4GALT5	NM_004776.4(B4GALT5):c.222C>T:p.Ala74=	coding	Benign
20	49713631	G	A	G49713631A	B4GALT5	NM_004776.4(B4GALT5):c.60C>T:p.Phe20=	coding	Benign
20	49983938	C	T	C49983938T	SNAI1	NM_005985.4(SNAI1):c.197C>T:p.Ala66Val	coding	Benign
20	50082792	G	A	G50082792A	UBE2V1	NM_001032288.3(UBE2V1):c.420C>T:p.Pro140=	coding	Benign
20	50574654	A	G	A50574654G	PTPN1	NM_002827.4(PTPN1):c.492A>G:p.Thr164=	coding	Benign
20	50581418	C	T	C50581418T	PTPN1	NM_002827.4(PTPN1):c.1242C>T:p.Cys414=	coding	Benign
20	50749692	C	T	C50749692T	PARD6B	NM_032521.3(PARD6B):c.323C>T:p.Thr108Met	coding	Benign
20	50830276	C	T	C50830276T	BCAS4	NM_017843.4(BCAS4):c.253-3C>T	noncoding	Benign
20	50841889	T	A	T50841889A	BCAS4	NM_017843.4(BCAS4):c.478T>A:p.Ser160Thr	coding	Benign
20	50841890	C	A	C50841890A	BCAS4	NM_017843.4(BCAS4):c.479C>A:p.Ser160Tyr	coding	Benign
20	50891435	G	A	G50891435A	ADNP	NM_001282531.3(ADNP):c.3279C>T:p.Ala1093=	coding	Benign/Likely_benign
20	50891529	A	G	A50891529G	ADNP	NM_001282531.3(ADNP):c.3185T>C:p.Ile1062Thr	coding	Benign
20	50891743	T	C	T50891743C	ADNP	NM_001282531.3(ADNP):c.2971A>G:p.Met991Val	coding	Benign/Likely_benign
20	50891771	C	A	C50891771A	ADNP	NM_001282531.3(ADNP):c.2943G>T:p.Val981=	coding	Benign
20	50891783	T	C	T50891783C	ADNP	NM_001282531.3(ADNP):c.2931A>G:p.Gly977=	coding	Benign/Likely_benign
20	50891965	G	A	G50891965A	ADNP	NM_001282531.3(ADNP):c.2749C>T:p.Pro917Ser	coding	Benign
20	50891971	C	T	C50891971T	ADNP	NM_001282531.3(ADNP):c.2743G>A:p.Val915Ile	coding	Benign
20	50892048	C	G	C50892048G	ADNP	NM_001282531.3(ADNP):c.2666G>C:p.Ser889Thr	coding	Benign
20	50892146	G	A	G50892146A	ADNP	NM_001282531.3(ADNP):c.2568C>T:p.Val856=	coding	Benign
20	50892160	T	C	T50892160C	ADNP	NM_001282531.3(ADNP):c.2554A>G:p.Lys852Glu	coding	Benign
20	50892239	C	A	C50892239A	ADNP	NM_001282531.3(ADNP):c.2475G>T:p.Gly825=	coding	Benign
20	50892336	A	C	A50892336C	ADNP	NM_001282531.3(ADNP):c.2378T>G:p.Leu793Ter	coding	Pathogenic
20	50892404	A	G	A50892404G	ADNP	NM_001282531.3(ADNP):c.2310T>C:p.Phe770=	coding	Benign
20	50892475	C	A	C50892475A	ADNP	NM_001282531.3(ADNP):c.2239G>T:p.Glu747Ter	coding	Pathogenic
20	50892484	C	A	C50892484A	ADNP	NM_001282531.3(ADNP):c.2230G>T:p.Glu744Ter	coding	Pathogenic
20	50892501	G	C	G50892501C	ADNP	NM_001282531.3(ADNP):c.2213C>G:p.Ser738Ter	coding	Pathogenic
20	50892501	G	T	G50892501T	ADNP	NM_001282531.3(ADNP):c.2213C>A:p.Ser738Ter	coding	Pathogenic
20	50892526	G	A	G50892526A	ADNP	NM_001282531.3(ADNP):c.2188C>T:p.Arg730Ter	coding	Pathogenic
20	50892557	G	C	G50892557C	ADNP	NM_001282531.3(ADNP):c.2157C>G:p.Tyr719Ter	coding	Pathogenic
20	50892557	G	T	G50892557T	ADNP	NM_001282531.3(ADNP):c.2157C>A:p.Tyr719Ter	coding	Pathogenic
20	50892638	C	T	C50892638T	ADNP	NM_001282531.3(ADNP):c.2076G>A:p.Lys692=	coding	Benign
20	50892647	G	A	G50892647A	ADNP	NM_001282531.3(ADNP):c.2067C>T:p.Gly689=	coding	Benign
20	50892933	T	C	T50892933C	ADNP	NM_001282531.3(ADNP):c.1781A>G:p.Gln594Arg	coding	Benign
20	50893048	G	A	G50893048A	ADNP	NM_001282531.3(ADNP):c.1666C>T:p.Gln556Ter	coding	Pathogenic
20	50893377	C	T	C50893377T	ADNP	NM_001282531.3(ADNP):c.1337G>A:p.Trp446Ter	coding	Pathogenic
20	50893503	G	T	G50893503T	ADNP	NM_001282531.3(ADNP):c.1211C>A:p.Ser404Ter	coding	Pathogenic
20	50893639	T	C	T50893639C	ADNP	NM_001282531.3(ADNP):c.1075A>G:p.Ile359Val	coding	Benign
20	50893681	G	A	G50893681A	ADNP	NM_001282531.3(ADNP):c.1033C>T:p.Gln345Ter	coding	Pathogenic
20	50893798	G	A	G50893798A	ADNP	NM_001282531.3(ADNP):c.916C>T:p.Arg306Ter	coding	Pathogenic
20	50893924	G	A	G50893924A	ADNP	NM_001282531.3(ADNP):c.790C>T:p.Arg264Ter	coding	Pathogenic
20	50893981	C	A	C50893981A	ADNP	NM_001282531.3(ADNP):c.733G>T:p.Glu245Ter	coding	Pathogenic
20	50894002	G	A	G50894002A	ADNP	NM_001282531.3(ADNP):c.712C>T:p.Gln238Ter	coding	Pathogenic
20	50894197	G	A	G50894197A	ADNP	NM_001282531.3(ADNP):c.517C>T:p.Arg173Ter	coding	Pathogenic
20	50894230	G	A	G50894230A	ADNP	NM_001282531.3(ADNP):c.484C>T:p.Gln162Ter	coding	Pathogenic
20	50894321	C	T	C50894321T	ADNP	NM_001282531.3(ADNP):c.393G>A:p.Pro131=	coding	Benign/Likely_benign
20	50894434	G	A	G50894434A	ADNP	NM_001282531.3(ADNP):c.280C>T:p.Arg94Cys	coding	Pathogenic
20	50904002	C	G	C50904002G	ADNP	NM_001282531.3(ADNP):c.-5-1G>C	noncoding	Pathogenic
20	50935173	A	G	A50935173G	DPM1	NM_003859.2(DPM1):c.742T>C:p.Ser248Pro	coding	Pathogenic
20	50935243	T	A	T50935243A	DPM1	NM_003859.2(DPM1):c.679-7A>T	noncoding	Benign
20	50942070	C	A	C50942070A	DPM1	NM_003859.2(DPM1):c.455G>T:p.Gly152Val	coding	Pathogenic
20	50942116	C	A	C50942116A	DPM1	NM_003859.2(DPM1):c.409G>T:p.Glu137Ter	coding	Pathogenic
20	50945767	A	T	A50945767T	DPM1	NM_003859.2(DPM1):c.373-5T>A	noncoding	Pathogenic
20	50948650	G	C	G50948650C	DPM1	NM_003859.2(DPM1):c.274C>G:p.Arg92Gly	coding	Pathogenic
20	50958440	C	G	C50958440G	DPM1	NM_003859.2(DPM1):c.84G>C:p.Ser28=	coding	Benign/Likely_benign
20	50958797	A	C	A50958797C	DPM1	NC_000020.11:g.50958797A>C	noncoding	Benign
20	51432158	G	A	G51432158A	NFATC2	NM_012340.5(NFATC2):c.2631C>T:p.Asn877=	coding	Benign
20	51432542	G	A	G51432542A	NFATC2	NM_012340.5(NFATC2):c.2247C>T:p.Ala749=	coding	Benign
20	51475656	T	C	T51475656C	NFATC2	NM_012340.5(NFATC2):c.1337A>G:p.His446Arg	coding	Benign
20	51516892	G	A	G51516892A	NFATC2	NM_012340.5(NFATC2):c.1224C>T:p.Tyr408=	coding	Benign
20	51523152	C	T	C51523152T	NFATC2	NM_012340.5(NFATC2):c.1089G>A:p.Ser363=	coding	Benign
20	51524090	C	G	C51524090G	NFATC2	NM_012340.5(NFATC2):c.151G>C:p.Val51Leu	coding	Benign
20	51604848	G	A	G51604848A	ATP9A	NM_006045.3(ATP9A):c.2976C>T:p.Ile992=	coding	Benign
20	51608617	T	A	T51608617A	ATP9A	NM_006045.3(ATP9A):c.2646A>T:p.Thr882=	coding	Benign
20	51656992	G	A	G51656992A	ATP9A	NM_006045.3(ATP9A):c.1452C>T:p.Ala484=	coding	Benign
20	51694020	G	A	G51694020A	ATP9A	NM_006045.3(ATP9A):c.630C>T:p.Leu210=	coding	Benign
20	51729952	C	A	C51729952A	ATP9A	NM_006045.3(ATP9A):c.95G>T:p.Gly32Val	coding	Benign
20	51784592	G	A	G51784592A	SALL4	NM_020436.5(SALL4):c.2835C>T:p.Asp945=	coding	Benign/Likely_benign
20	51788890	G	A	G51788890A	SALL4	NM_020436.5(SALL4):c.2713C>T:p.Arg905Ter	coding	Pathogenic
20	51788940	T	C	T51788940C	SALL4	NM_020436.5(SALL4):c.2663A>G:p.His888Arg	coding	Pathogenic
20	51788954	G	A	G51788954A	SALL4	NM_020436.5(SALL4):c.2649C>T:p.Ser883=	coding	Benign
20	51788963	C	G	C51788963G	SALL4	NM_020436.5(SALL4):c.2640G>C:p.Ser880=	coding	Benign
20	51789010	G	A	G51789010A	SALL4	NM_020436.5(SALL4):c.2593C>T:p.Arg865Ter	coding	Pathogenic
20	51789110	T	C	T51789110C	SALL4	NM_020436.5(SALL4):c.2493A>G:p.Arg831=	coding	Benign
20	51789112	G	A	G51789112A	SALL4	NM_020436.5(SALL4):c.2491C>T:p.Arg831Ter	coding	Pathogenic
20	51789120	G	A	G51789120A	SALL4	NM_020436.5(SALL4):c.2483C>T:p.Thr828Met	coding	Benign/Likely_benign
20	51790091	T	G	T51790091G	SALL4	NM_020436.5(SALL4):c.2392A>C:p.Ile798Leu	coding	Benign
20	51790193	A	G	A51790193G	SALL4	NM_020436.5(SALL4):c.2290T>C:p.Ser764Pro	coding	Benign
20	51790265	G	C	G51790265C	SALL4	NM_020436.5(SALL4):c.2218C>G:p.Pro740Ala	coding	Benign
20	51790268	C	A	C51790268A	SALL4	NM_020436.5(SALL4):c.2215G>T:p.Ala739Ser	coding	Benign/Likely_benign
20	51790301	C	G	C51790301G	SALL4	NM_020436.5(SALL4):c.2182G>C:p.Ala728Pro	coding	Benign
20	51790317	T	C	T51790317C	SALL4	NM_020436.5(SALL4):c.2166A>G:p.Leu722=	coding	Benign
20	51790321	G	A	G51790321A	SALL4	NM_020436.5(SALL4):c.2162C>T:p.Thr721Met	coding	Benign
20	51790353	C	T	C51790353T	SALL4	NM_020436.5(SALL4):c.2130G>A:p.Thr710=	coding	Benign
20	51790445	C	T	C51790445T	SALL4	NM_020436.5(SALL4):c.2038G>A:p.Gly680Ser	coding	Benign
20	51790446	G	A	G51790446A	SALL4	NM_020436.5(SALL4):c.2037C>T:p.Thr679=	coding	Benign
20	51790455	G	A	G51790455A	SALL4	NM_020436.5(SALL4):c.2028C>T:p.Asn676=	coding	Benign
20	51790529	G	A	G51790529A	SALL4	NM_020436.5(SALL4):c.1954C>T:p.Gln652Ter	coding	Pathogenic
20	51790533	G	A	G51790533A	SALL4	NM_020436.5(SALL4):c.1950C>T:p.Gly650=	coding	Benign
20	51790623	T	C	T51790623C	SALL4	NM_020436.5(SALL4):c.1860A>G:p.Thr620=	coding	Benign
20	51790634	G	A	G51790634A	SALL4	NM_020436.5(SALL4):c.1849C>T:p.Arg617Ter	coding	Pathogenic
20	51790682	G	A	G51790682A	SALL4	NM_020436.5(SALL4):c.1801C>T:p.Arg601Ter	coding	Pathogenic
20	51790704	C	A	C51790704A	SALL4	NM_020436.5(SALL4):c.1779G>T:p.Pro593=	coding	Benign
20	51790926	G	A	G51790926A	SALL4	NM_020436.5(SALL4):c.1557C>T:p.Pro519=	coding	Benign
20	51790963	A	C	A51790963C	SALL4	NM_020436.5(SALL4):c.1520T>G:p.Leu507Arg	coding	Benign
20	51790986	C	A	C51790986A	SALL4	NM_020436.5(SALL4):c.1497G>T:p.Thr499=	coding	Benign
20	51791130	G	A	G51791130A	SALL4	NM_020436.5(SALL4):c.1353C>T:p.Ala451=	coding	Benign
20	51791370	G	C	G51791370C	SALL4	NM_020436.5(SALL4):c.1113C>G:p.Val371=	coding	Benign
20	51791427	C	T	C51791427T	SALL4	NM_020436.5(SALL4):c.1056G>A:p.Ala352=	coding	Benign
20	51791787	G	A	G51791787A	SALL4	NM_020436.5(SALL4):c.696C>T:p.Thr232=	coding	Benign
20	51791838	G	C	G51791838C	SALL4	NM_020436.5(SALL4):c.645C>G:p.Leu215=	coding	Benign
20	51791874	G	T	G51791874T	SALL4	NM_020436.5(SALL4):c.609C>A:p.Ala203=	coding	Benign
20	51791943	A	G	A51791943G	SALL4	NM_020436.5(SALL4):c.540T>C:p.Asn180=	coding	Benign
20	51791954	C	T	C51791954T	SALL4	NM_020436.5(SALL4):c.529G>A:p.Ala177Thr	coding	Benign
20	51791960	T	A	T51791960A	SALL4	NM_020436.5(SALL4):c.523A>T:p.Lys175Ter	coding	Pathogenic
20	51792075	A	G	A51792075G	SALL4	NM_020436.5(SALL4):c.408T>C:p.Asn136=	coding	Benign
20	51792134	C	T	C51792134T	SALL4	NM_020436.5(SALL4):c.349G>A:p.Gly117Arg	coding	Benign
20	53571837	T	A	T53571837A	ZNF217	NM_006526.2(ZNF217):c.3054A>T:p.Ser1018=	coding	Benign
20	53575914	G	A	G53575914A	ZNF217	NM_006526.2(ZNF217):c.2850C>T:p.Gly950=	coding	Benign
20	53576109	G	C	G53576109C	ZNF217	NM_006526.2(ZNF217):c.2655C>G:p.Pro885=	coding	Benign
20	53576151	G	T	G53576151T	ZNF217	NM_006526.2(ZNF217):c.2613C>A:p.Pro871=	coding	Benign
20	53576250	T	C	T53576250C	ZNF217	NM_006526.2(ZNF217):c.2514A>G:p.Gln838=	coding	Benign
20	53577183	G	A	G53577183A	ZNF217	NM_006526.2(ZNF217):c.1581C>T:p.Thr527=	coding	Benign
20	53582440	G	A	G53582440A	ZNF217	NM_006526.2(ZNF217):c.387C>T:p.Ser129=	coding	Benign
20	53953513	C	T	C53953513T	BCAS1	NM_003657.3(BCAS1):c.1599G>A:p.Thr533=	coding	Benign
20	53953690	T	C	T53953690C	BCAS1	NM_003657.3(BCAS1):c.1422A>G:p.Ser474=	coding	Benign
20	53957507	C	T	C53957507T	BCAS1	NM_003657.3(BCAS1):c.1351-10G>A	noncoding	Benign
20	54028575	T	C	T54028575C	BCAS1	NM_003657.3(BCAS1):c.540A>G:p.Ala180=	coding	Benign
20	54028603	G	A	G54028603A	BCAS1	NM_003657.3(BCAS1):c.512C>T:p.Thr171Met	coding	Benign
20	54028915	G	A	G54028915A	BCAS1	NM_003657.3(BCAS1):c.200C>T:p.Thr67Met	coding	Benign
20	54028948	G	A	G54028948A	BCAS1	NM_003657.3(BCAS1):c.167C>T:p.Thr56Met	coding	Benign
20	54153445	C	T	C54153445T	CYP24A1	NM_000782.4(CYP24A1):c.*1327G>A	noncoding	Benign
20	54153887	A	C	A54153887C	CYP24A1	NM_000782.5(CYP24A1):c.*885T>G	noncoding	Benign
20	54153900	G	A	G54153900A	CYP24A1	NM_000782.5(CYP24A1):c.*872C>T	noncoding	Benign
20	54154056	C	T	C54154056T	CYP24A1	NM_000782.5(CYP24A1):c.*716G>A	noncoding	Benign
20	54154057	G	C	G54154057C	CYP24A1	NM_000782.5(CYP24A1):c.*715C>G	noncoding	Benign
20	54154334	G	A	G54154334A	CYP24A1	NM_000782.5(CYP24A1):c.*438C>T	noncoding	Benign
20	54154632	A	G	A54154632G	CYP24A1	NM_000782.5(CYP24A1):c.*140T>C	noncoding	Benign
20	54154695	A	C	A54154695C	CYP24A1	NM_000782.5(CYP24A1):c.*77T>G	noncoding	Benign
20	54154722	G	A	G54154722A	CYP24A1	NM_000782.5(CYP24A1):c.*50C>T	noncoding	Benign
20	54157195	G	A	G54157195A	CYP24A1	NM_000782.5(CYP24A1):c.1529C>T:p.Ala510Val	coding	Benign
20	54157197	G	A	G54157197A	CYP24A1	NM_000782.5(CYP24A1):c.1527C>T:p.Ile509=	coding	Benign
20	54158135	C	T	C54158135T	CYP24A1	NM_000782.5(CYP24A1):c.1187G>A:p.Arg396Gln	coding	Pathogenic
20	54158136	G	A	G54158136A	CYP24A1	NM_000782.5(CYP24A1):c.1186C>T:p.Arg396Trp	coding	Pathogenic
20	54158989	C	T	C54158989T	CYP24A1	NM_000782.5(CYP24A1):c.1125G>A:p.Pro375=	coding	Benign
20	54158993	A	G	A54158993G	CYP24A1	NM_000782.5(CYP24A1):c.1121T>C:p.Met374Thr	coding	Benign
20	54159075	G	A	G54159075A	CYP24A1	NM_000782.5(CYP24A1):c.1039C>T:p.Gln347Ter	coding	Pathogenic/Likely_pathogenic
20	54162708	C	T	C54162708T	CYP24A1	NM_000782.5(CYP24A1):c.990+9G>A	noncoding	Benign
20	54162743	C	T	C54162743T	CYP24A1	NM_000782.5(CYP24A1):c.964G>A:p.Glu322Lys	coding	Pathogenic
20	54162799	C	G	C54162799G	CYP24A1	NM_000782.5(CYP24A1):c.908G>C:p.Cys303Ser	coding	Benign
20	54164552	C	T	C54164552T	CYP24A1	NM_000782.5(CYP24A1):c.744G>A:p.Thr248=	coding	Benign
20	54169599	C	T	C54169599T	CYP24A1	NM_000782.5(CYP24A1):c.633G>A:p.Ser211=	coding	Benign
20	54169628	C	G	C54169628G	CYP24A1	NM_000782.5(CYP24A1):c.604G>C:p.Asp202His	coding	Benign/Likely_benign
20	54169655	G	T	G54169655T	CYP24A1	NM_000782.5(CYP24A1):c.577C>A:p.Leu193Ile	coding	Benign
20	54169680	G	A	G54169680A	CYP24A1	NM_000782.5(CYP24A1):c.552C>T:p.Ala184=	coding	Benign
20	54171644	C	T	C54171644T	CYP24A1	NM_000782.5(CYP24A1):c.476G>A:p.Arg159Gln	coding	Pathogenic
20	54171651	G	T	G54171651T	CYP24A1	NM_000782.5(CYP24A1):c.469C>A:p.Arg157=	coding	Benign
20	54171669	C	A	C54171669A	CYP24A1	NM_000782.5(CYP24A1):c.451G>T:p.Glu151Ter	coding	Pathogenic
20	54172915	A	G	A54172915G	CYP24A1	NM_000782.5(CYP24A1):c.443T>C:p.Leu148Pro	coding	Pathogenic
20	54172980	C	T	C54172980T	CYP24A1	NM_000782.5(CYP24A1):c.378G>A:p.Pro126=	coding	Benign
20	54173346	A	C	A54173346C	CYP24A1	NM_000782.5(CYP24A1):c.234T>G:p.Gly78=	coding	Benign
20	54173430	G	A	G54173430A	CYP24A1	NM_000782.5(CYP24A1):c.150C>T:p.Gly50=	coding	Benign/Likely_benign
20	54173466	C	A	C54173466A	CYP24A1	NM_000782.5(CYP24A1):c.114G>T:p.Pro38=	coding	Benign
20	54173655	G	A	G54173655A	CYP24A1	NM_000782.5(CYP24A1):c.-76C>T	noncoding	Benign
20	54173673	T	C	T54173673C	CYP24A1	NM_000782.5(CYP24A1):c.-94A>G	noncoding	Benign
20	54173679	A	G	A54173679G	CYP24A1	NM_000782.5(CYP24A1):c.-100T>C	noncoding	Benign
20	54173733	A	C	A54173733C	CYP24A1	NM_000782.5(CYP24A1):c.-154T>G	noncoding	Benign
20	56388177	G	A	G56388177A	AURKA	NM_198437.3(AURKA):c.21C>T:p.Asn7=	coding	Benign
20	56437340	C	T	C56437340T	CASS4	NM_001164116.2(CASS4):c.213C>T:p.Leu71=	coding	Benign
20	56452453	C	T	C56452453T	CASS4	NM_001164116.2(CASS4):c.1277C>T:p.Ser426Leu	coding	Benign
20	56452648	G	A	G56452648A	CASS4	NM_001164116.2(CASS4):c.1472G>A:p.Arg491Lys	coding	Benign
20	56631279	C	T	C56631279T	TFAP2C	NM_003222.4(TFAP2C):c.123C>T:p.Ser41=	coding	Benign
20	57171040	G	A	G57171040A	BMP7	NM_001719.3(BMP7):c.1215C>T:p.Ser405=	coding	Benign
20	57174925	C	T	C57174925T	BMP7	NM_001719.3(BMP7):c.1035+6G>A	noncoding	Benign
20	57175004	T	C	T57175004C	BMP7	NM_001719.3(BMP7):c.962A>G:p.Asn321Ser	coding	Benign
20	57202628	G	A	G57202628A	BMP7	NM_001719.3(BMP7):c.612-5C>T	noncoding	Benign
20	57228093	C	T	C57228093T	BMP7	NM_001719.3(BMP7):c.611+136G>A	noncoding	Benign
20	57228384	G	A	G57228384A	BMP7	NM_001719.3(BMP7):c.456C>T:p.His152=	coding	Benign
20	57228631	C	T	C57228631T	BMP7	NM_001719.3(BMP7):c.419-210G>A	noncoding	Benign
20	57329973	A	G	A57329973G	SPO11	NM_012444.3(SPO11):c.106A>G:p.Thr36Ala	coding	Benign
20	57354704	T	G	T57354704G	RAE1	NM_003610.4(RAE1):c.91-8T>G	noncoding	Benign
20	57391643	C	T	C57391643T	RBM38	NM_017495.6(RBM38):c.62C>T:p.Pro21Leu	coding	Benign
20	57407639	G	A	G57407639A	RBM38	NM_017495.6(RBM38):c.513G>A:p.Glu171=	coding	Benign
20	57498588	C	T	C57498588T	CTCFL	NM_001269040.1(CTCFL):c.1954G>A:p.Val652Met	coding	Benign
20	57523690	G	A	G57523690A	CTCFL	NM_001269040.1(CTCFL):c.516C>T:p.Ser172=	coding	Benign
20	57561423	G	A	G57561423A	PCK1	NM_002591.4(PCK1):c.12G>A:p.Gln4=	coding	Benign
20	57561480	A	G	A57561480G	PCK1	NM_002591.4(PCK1):c.69A>G:p.Leu23=	coding	Benign
20	57562128	C	T	C57562128T	PCK1	NM_002591.4(PCK1):c.282C>T:p.Ile94=	coding	Benign
20	57562742	G	A	G57562742A	PCK1	NM_002591.4(PCK1):c.453G>A:p.Ser151=	coding	Benign
20	57562751	A	G	A57562751G	PCK1	NM_002591.4(PCK1):c.462A>G:p.Ser154=	coding	Benign
20	57562778	A	G	A57562778G	PCK1	NM_002591.4(PCK1):c.489A>G:p.Ser163=	coding	Benign
20	57562839	G	C	G57562839C	PCK1	NM_002591.4(PCK1):c.550G>C:p.Val184Leu	coding	Benign
20	57563074	C	T	C57563074T	PCK1	NM_002591.4(PCK1):c.657C>T:p.Ile219=	coding	Benign
20	57563122	C	T	C57563122T	PCK1	NM_002591.4(PCK1):c.705C>T:p.Tyr235=	coding	Benign
20	57563565	A	G	A57563565G	PCK1	NM_002591.4(PCK1):c.799A>G:p.Ile267Val	coding	Benign
20	57563592	G	A	G57563592A	PCK1	NM_002591.4(PCK1):c.826G>A:p.Glu276Lys	coding	Benign
20	57563609	G	A	G57563609A	PCK1	NM_002591.4(PCK1):c.843G>A:p.Ala281=	coding	Benign/Likely_benign
20	57563630	C	T	C57563630T	PCK1	NM_002591.4(PCK1):c.864C>T:p.Cys288=	coding	Benign/Likely_benign
20	57563639	C	T	C57563639T	PCK1	NM_002591.4(PCK1):c.873C>T:p.Thr291=	coding	Benign
20	57564309	G	A	G57564309A	PCK1	NM_002591.4(PCK1):c.1102G>A:p.Val368Ile	coding	Benign
20	57564347	T	C	T57564347C	PCK1	NM_002591.4(PCK1):c.1140T>C:p.Gly380=	coding	Benign
20	57564504	C	T	C57564504T	PCK1	NM_002591.4(PCK1):c.1209C>T:p.Asn403=	coding	Benign
20	57565609	C	T	C57565609T	PCK1	NM_002591.4(PCK1):c.1674C>T:p.Ile558=	coding	Benign
20	57565670	A	C	A57565670C	PCK1	NM_002591.4(PCK1):c.1735A>C:p.Ser579Arg	coding	Benign/Likely_benign
20	57565771	C	T	C57565771T	PCK1	NM_002591.4(PCK1):c.1836C>T:p.Ile612=	coding	Benign
20	57565924	T	G	T57565924G	PCK1	NM_002591.4(PCK1):c.*120T>G	noncoding	Benign
20	57566163	G	A	G57566163A	PCK1	NM_002591.4(PCK1):c.*359G>A	noncoding	Benign
20	57566235	T	C	T57566235C	PCK1	NM_002591.4(PCK1):c.*431T>C	noncoding	Benign
20	57604597	C	T	C57604597T	ZBP1	NM_030776.3(ZBP1):c.1266G>A:p.Gly422=	coding	Benign
20	57613163	C	T	C57613163T	ZBP1	NM_030776.3(ZBP1):c.670G>A:p.Gly224Ser	coding	Benign
20	58389138	G	C	G58389138C	VAPB	NC_000020.11:g.58389138G>C	noncoding	Benign
20	58389168	G	C	G58389168C	VAPB	NM_004738.4(VAPB):c.-292G>C	noncoding	Benign
20	58389427	C	G	C58389427G	VAPB	NM_004738.5(VAPB):c.-33C>G	noncoding	Benign/Likely_benign
20	58418207	A	G	A58418207G	VAPB	NM_004738.4(VAPB):c.59-4A>G	noncoding	Benign/Likely_benign
20	58418257	G	A	G58418257A	VAPB	NM_004738.5(VAPB):c.105G>A:p.Pro35=	coding	Benign
20	58418289	C	T	C58418289T	VAPB	NM_004738.5(VAPB):c.137C>T:p.Thr46Ile	coding	Pathogenic
20	58418318	C	T	C58418318T	VAPB	NM_004738.5(VAPB):c.166C>T:p.Pro56Ser	coding	Pathogenic
20	58434740	C	T	C58434740T	VAPB	NM_004738.4(VAPB):c.315+35C>T	noncoding	Benign
20	58439019	T	G	T58439019G	VAPB	NM_004738.4(VAPB):c.390T>G:p.Asp130Glu	coding	Benign/Likely_benign
20	58441002	C	T	C58441002T	VAPB	NM_004738.5(VAPB):c.492C>T:p.Thr164=	coding	Benign/Likely_benign
20	58441020	G	A	G58441020A	VAPB	NM_004738.5(VAPB):c.510G>A:p.Met170Ile	coding	Benign/Likely_benign
20	58441038	G	A	G58441038A	VAPB	NM_004738.5(VAPB):c.528G>A:p.Leu176=	coding	Benign
20	58444072	C	T	C58444072T	VAPB	NM_004738.5(VAPB):c.574-5C>T	noncoding	Benign
20	58444310	G	A	G58444310A	VAPB	NM_004738.5(VAPB):c.*75G>A	noncoding	Benign
20	58444831	C	T	C58444831T	VAPB	NM_004738.5(VAPB):c.*596C>T	noncoding	Benign
20	58444988	C	G	C58444988G	VAPB	NM_004738.5(VAPB):c.*753C>G	noncoding	Benign
20	58445119	A	G	A58445119G	VAPB	NM_004738.5(VAPB):c.*884A>G	noncoding	Benign
20	58445172	G	C	G58445172C	VAPB	NM_004738.5(VAPB):c.*937G>C	noncoding	Benign
20	58445230	T	G	T58445230G	VAPB	NM_004738.5(VAPB):c.*995T>G	noncoding	Benign
20	58445500	G	C	G58445500C	VAPB	NM_004738.5(VAPB):c.*1265G>C	noncoding	Benign
20	58445517	A	G	A58445517G	VAPB	NM_004738.5(VAPB):c.*1282A>G	noncoding	Benign
20	58445570	C	T	C58445570T	VAPB	NM_004738.5(VAPB):c.*1335C>T	noncoding	Benign
20	58445648	C	G	C58445648G	VAPB	NM_004738.5(VAPB):c.*1413C>G	noncoding	Benign
20	58445876	G	A	G58445876A	VAPB	NM_004738.5(VAPB):c.*1641G>A	noncoding	Benign
20	58446008	G	A	G58446008A	VAPB	NM_004738.5(VAPB):c.*1773G>A	noncoding	Benign
20	58446459	C	T	C58446459T	VAPB	NM_004738.5(VAPB):c.*2224C>T	noncoding	Benign
20	58446555	T	A	T58446555A	VAPB	NM_004738.5(VAPB):c.*2320T>A	noncoding	Benign/Likely_benign
20	58446827	G	A	G58446827A	VAPB	NM_004738.5(VAPB):c.*2592G>A	noncoding	Benign/Likely_benign
20	58446906	A	G	A58446906G	VAPB	NM_004738.5(VAPB):c.*2671A>G	noncoding	Benign
20	58447001	C	T	C58447001T	VAPB	NM_004738.5(VAPB):c.*2766C>T	noncoding	Benign
20	58447054	A	G	A58447054G	VAPB	NM_004738.5(VAPB):c.*2819A>G	noncoding	Benign
20	58447255	A	G	A58447255G	VAPB	NM_004738.5(VAPB):c.*3020A>G	noncoding	Benign/Likely_benign
20	58448057	C	G	C58448057G	VAPB	NM_004738.5(VAPB):c.*3822C>G	noncoding	Benign/Likely_benign
20	58448203	C	T	C58448203T	VAPB	NM_004738.5(VAPB):c.*3968C>T	noncoding	Benign
20	58448287	C	T	C58448287T	VAPB	NM_004738.5(VAPB):c.*4052C>T	noncoding	Benign
20	58448307	C	T	C58448307T	VAPB	NM_004738.5(VAPB):c.*4072C>T	noncoding	Benign/Likely_benign
20	58448475	G	C	G58448475C	VAPB	NM_004738.5(VAPB):c.*4240G>C	noncoding	Benign/Likely_benign
20	58448506	A	G	A58448506G	VAPB	NM_004738.5(VAPB):c.*4271A>G	noncoding	Benign
20	58448681	G	A	G58448681A	VAPB	NM_004738.5(VAPB):c.*4446G>A	noncoding	Benign
20	58448755	T	C	T58448755C	VAPB	NM_004738.5(VAPB):c.*4520T>C	noncoding	Benign
20	58448794	A	G	A58448794G	VAPB	NM_004738.5(VAPB):c.*4559A>G	noncoding	Benign
20	58449103	C	T	C58449103T	VAPB	NM_004738.5(VAPB):c.*4868C>T	noncoding	Benign
20	58449158	A	G	A58449158G	VAPB	NM_004738.5(VAPB):c.*4923A>G	noncoding	Benign
20	58449187	C	T	C58449187T	VAPB	NM_004738.5(VAPB):c.*4952C>T	noncoding	Benign
20	58449240	T	A	T58449240A	VAPB	NM_004738.5(VAPB):c.*5005T>A	noncoding	Benign/Likely_benign
20	58449485	T	C	T58449485C	VAPB	NM_004738.5(VAPB):c.*5250T>C	noncoding	Benign
20	58449533	C	T	C58449533T	VAPB	NM_004738.5(VAPB):c.*5298C>T	noncoding	Benign
20	58449847	C	G	C58449847G	VAPB	NM_004738.5(VAPB):c.*5612C>G	noncoding	Benign/Likely_benign
20	58450323	C	T	C58450323T	VAPB	NM_004738.5(VAPB):c.*6088C>T	noncoding	Benign
20	58450854	G	A	G58450854A	VAPB	NM_004738.5(VAPB):c.*6619G>A	noncoding	Benign
20	58651263	T	C	T58651263C	STX16	NR_037941.1(STX16):n.11T>C	noncoding	Benign
20	58651457	G	A	G58651457A	STX16	NM_001001433.3(STX16):c.-550G>A	noncoding	Benign
20	58651473	C	G	C58651473G	STX16	NM_001001433.3(STX16):c.-534C>G	noncoding	Benign
20	58651543	G	A	G58651543A	STX16	NM_001001433.3(STX16):c.-464G>A	noncoding	Benign
20	58651586	C	G	C58651586G	STX16	NM_001001433.3(STX16):c.-421C>G	noncoding	Benign
20	58651652	C	T	C58651652T	STX16	NM_001001433.3(STX16):c.-355C>T	noncoding	Benign
20	58651657	C	A	C58651657A	STX16	NM_001001433.3(STX16):c.-350C>A	noncoding	Benign
20	58651847	G	A	G58651847A	STX16	NM_001001433.3(STX16):c.-160G>A	noncoding	Benign
20	58651944	T	C	T58651944C	STX16	NM_001001433.3(STX16):c.-63T>C	noncoding	Benign
20	58651982	A	C	A58651982C	STX16	NM_001001433.3(STX16):c.-25A>C	noncoding	Benign
20	58652112	C	A	C58652112A	STX16	NM_001001433.3(STX16):c.106C>A:p.Pro36Thr	coding	Benign/Likely_benign
20	58652153	G	A	G58652153A	STX16	NM_001001433.3(STX16):c.132+15G>A	noncoding	Benign
20	58659631	C	T	C58659631T	STX16	NM_001001433.3(STX16):c.141C>T:p.Asp47=	coding	Benign
20	58667562	C	T	C58667562T	STX16	NM_001001433.3(STX16):c.217C>T:p.Arg73Trp	coding	Benign
20	58669284	C	T	C58669284T	STX16	NM_001001433.3(STX16):c.394-7C>T	noncoding	Benign
20	58669340	G	A	G58669340A	STX16	NM_001001433.3(STX16):c.443G>A:p.Arg148Gln	coding	Benign
20	58669351	G	A	G58669351A	STX16	NM_001001433.3(STX16):c.454G>A:p.Glu152Lys	coding	Benign
20	58669437	G	A	G58669437A	STX16	NM_001001433.3(STX16):c.540G>A:p.Gln180=	coding	Benign
20	58670505	G	C	G58670505C	STX16	NM_001001433.3(STX16):c.557-7G>C	noncoding	Benign/Likely_benign
20	58670524	G	A	G58670524A	STX16	NM_001001433.3(STX16):c.569G>A:p.Arg190Gln	coding	Benign
20	58670540	G	A	G58670540A	STX16	NM_001001433.3(STX16):c.585G>A:p.Gln195=	coding	Benign
20	58670549	C	T	C58670549T	STX16	NM_001001433.3(STX16):c.594C>T:p.Phe198=	coding	Benign/Likely_benign
20	58670599	A	T	A58670599T	STX16	NM_001001433.3(STX16):c.644A>T:p.His215Leu	coding	Benign
20	58671211	C	T	C58671211T	STX16	NM_001001433.3(STX16):c.706C>T:p.Arg236Trp	coding	Benign
20	58676361	G	A	G58676361A	STX16	NM_001001433.3(STX16):c.*70G>A	noncoding	Benign
20	58676474	G	T	G58676474T	STX16	NM_001001433.3(STX16):c.*183G>T	noncoding	Benign
20	58676830	G	A	G58676830A	STX16	NM_001001433.3(STX16):c.*539G>A	noncoding	Benign
20	58677340	G	A	G58677340A	STX16	NM_001001433.3(STX16):c.*1049G>A	noncoding	Benign
20	58677872	G	C	G58677872C	STX16	NM_001001433.3(STX16):c.*1581G>C	noncoding	Benign
20	58677943	G	A	G58677943A	STX16	NM_001001433.3(STX16):c.*1652G>A	noncoding	Benign
20	58678038	G	C	G58678038C	STX16	NM_001001433.3(STX16):c.*1747G>C	noncoding	Benign
20	58678076	A	G	A58678076G	STX16	NM_001001433.3(STX16):c.*1785A>G	noncoding	Benign
20	58678081	A	T	A58678081T	STX16	NM_001001433.3(STX16):c.*1790A>T	noncoding	Benign
20	58678088	C	G	C58678088G	STX16	NM_001001433.3(STX16):c.*1797C>G	noncoding	Benign
20	58678154	C	A	C58678154A	STX16	NM_001001433.3(STX16):c.*1863C>A	noncoding	Benign
20	58678177	T	C	T58678177C	STX16	NM_001001433.3(STX16):c.*1886T>C	noncoding	Benign
20	58678190	C	T	C58678190T	STX16	NM_001001433.3(STX16):c.*1899C>T	noncoding	Benign
20	58678219	C	T	C58678219T	STX16	NM_001001433.3(STX16):c.*1928C>T	noncoding	Benign
20	58678288	A	G	A58678288G	STX16	NM_001001433.3(STX16):c.*1997A>G	noncoding	Benign
20	58678348	G	A	G58678348A	STX16	NM_001001433.3(STX16):c.*2057G>A	noncoding	Benign
20	58678351	T	C	T58678351C	STX16	NM_001001433.3(STX16):c.*2060T>C	noncoding	Benign
20	58678371	G	A	G58678371A	STX16	NM_001001433.3(STX16):c.*2080G>A	noncoding	Benign
20	58678584	G	A	G58678584A	STX16	NM_001001433.3(STX16):c.*2293G>A	noncoding	Benign
20	58678656	A	T	A58678656T	STX16	NM_001001433.3(STX16):c.*2365A>T	noncoding	Benign
20	58678834	G	C	G58678834C	STX16	NM_001001433.3(STX16):c.*2543G>C	noncoding	Benign
20	58678918	G	C	G58678918C	STX16	NM_001001433.3(STX16):c.*2627G>C	noncoding	Benign
20	58679176	C	T	C58679176T	STX16	NM_001001433.3(STX16):c.*2885C>T	noncoding	Benign
20	58679253	C	T	C58679253T	STX16	NM_001001433.3(STX16):c.*2962C>T	noncoding	Benign
20	58679401	G	T	G58679401T	STX16	NM_001001433.3(STX16):c.*3110G>T	noncoding	Benign
20	58679485	C	T	C58679485T	STX16	NM_001001433.3(STX16):c.*3194C>T	noncoding	Benign
20	58840821	C	A	C58840821A	GNAS	NM_016592.5(GNAS):c.715C>A:p.Pro239Thr	coding	Benign
20	58853749	A	G	A58853749G	GNAS	NM_016592.5(GNAS):c.*42+12863A>G	coding	Benign
20	58854572	C	A	C58854572A	GNAS	NM_016592.5(GNAS):c.*42+13686C>A	coding	Benign
20	58854720	C	A	C58854720A	GNAS	NM_080425.4(GNAS):c.1455C>A:p.Ala485=	coding	Benign
20	58855063	C	G	C58855063G	GNAS	NM_016592.5(GNAS):c.*42+14177C>G	coding	Benign/Likely_benign
20	58891727	A	G	A58891727G	GNAS	NM_000516.6(GNAS):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
20	58891727	A	T	A58891727T	GNAS	NM_000516.6(GNAS):c.1A>T:p.Met1Leu	coding	Pathogenic
20	58891728	T	C	T58891728C	GNAS	NM_016592.4(GNAS):c.43-3884T>C	coding	Pathogenic
20	58891734	G	C	G58891734C	GNAS	NM_000516.6(GNAS):c.8G>C:p.Cys3Ser	coding	Pathogenic
20	58891735	C	T	C58891735T	GNAS	NM_000516.6(GNAS):c.9C>T:p.Cys3=	coding	Benign
20	58891744	C	T	C58891744T	GNAS	NM_000516.6(GNAS):c.18C>T:p.Asn6=	coding	Benign
20	58891760	C	T	C58891760T	GNAS	NM_000516.6(GNAS):c.34C>T:p.Gln12Ter	coding	Pathogenic
20	58891811	C	T	C58891811T	GNAS	NM_000516.6(GNAS):c.85C>T:p.Gln29Ter	coding	Pathogenic
20	58891829	C	T	C58891829T	GNAS	NM_000516.7(GNAS):c.103C>T:p.Gln35Ter	coding	Pathogenic
20	58891851	G	A	G58891851A	GNAS	NM_000516.6(GNAS):c.125G>A:p.Arg42His	coding	Pathogenic
20	58891866	G	C	G58891866C	GNAS	NM_001077488.4(GNAS):c.139+1G>C	coding	Pathogenic
20	58903544	A	T	A58903544T	GNAS	NM_000516.6(GNAS):c.271A>T:p.Lys91Ter	coding	Pathogenic
20	58903550	C	T	C58903550T	GNAS	NM_000516.6(GNAS):c.277C>T:p.Gln93Ter	coding	Pathogenic
20	58903569	T	C	T58903569C	GNAS	NM_016592.4(GNAS):c.*202T>C	coding	Pathogenic
20	58903579	G	A	G58903579A	GNAS	NM_001077488.4(GNAS):c.309G>A:p.Ala103=	coding	Benign
20	58903708	G	A	G58903708A	GNAS	NM_016592.4(GNAS):c.*255G>A	coding	Pathogenic
20	58903725	C	T	C58903725T	GNAS	NM_000516.6(GNAS):c.366C>T:p.Pro122=	coding	Benign
20	58903743	G	A	G58903743A	GNAS	NM_000516.6(GNAS):c.384G>A:p.Val128=	coding	Benign
20	58903752	C	T	C58903752T	GNAS	NM_016592.4(GNAS):c.*299C>T	coding	Benign
20	58903791	C	T	C58903791T	GNAS	NM_000516.6(GNAS):c.432C>T:p.Pro144=	coding	Benign
20	58903792	G	A	G58903792A	GNAS	NM_001077488.4(GNAS):c.435+1G>A	coding	Pathogenic
20	58905365	T	C	T58905365C	GNAS	NM_000516.6(GNAS):c.433-18T>C	noncoding	Benign
20	58905443	C	T	C58905443T	GNAS	NM_000516.6(GNAS):c.493C>T:p.Arg165Cys	coding	Pathogenic
20	58905476	C	T	C58905476T	GNAS	NM_000516.6(GNAS):c.526C>T:p.Gln176Ter	coding	Pathogenic
20	58905481	G	T	G58905481T	GNAS	NM_000516.6(GNAS):c.530+1G>T	coding	Pathogenic
20	58909160	A	T	A58909160T	GNAS	NM_080425.3(GNAS):c.2460-2A>T	noncoding	Pathogenic
20	58909365	C	A	C58909365A	GNAS	NM_000516.6(GNAS):c.601C>A:p.Arg201Ser	coding	Pathogenic
20	58909365	C	G	C58909365G	GNAS	NM_000516.6(GNAS):c.601C>G:p.Arg201Gly	coding	Pathogenic
20	58909365	C	T	C58909365T	GNAS	NM_000516.6(GNAS):c.601C>T:p.Arg201Cys	coding	Pathogenic/Likely_pathogenic
20	58909366	G	A	G58909366A	GNAS	NM_000516.6(GNAS):c.602G>A:p.Arg201His	coding	Pathogenic/Likely_pathogenic
20	58909366	G	T	G58909366T	GNAS	NM_000516.6(GNAS):c.602G>T:p.Arg201Leu	coding	Pathogenic/Likely_pathogenic
20	58909540	C	A	C58909540A	GNAS	NM_000516.6(GNAS):c.679C>A:p.Gln227Lys	coding	Pathogenic
20	58909541	A	G	A58909541G	GNAS	NM_000516.6(GNAS):c.680A>G:p.Gln227Arg	coding	Pathogenic
20	58909541	A	T	A58909541T	GNAS	NM_000516.6(GNAS):c.680A>T:p.Gln227Leu	coding	Pathogenic/Likely_pathogenic
20	58909542	G	C	G58909542C	GNAS	NM_016592.4(GNAS):c.*587G>C	coding	Pathogenic
20	58909542	G	T	G58909542T	GNAS	NM_000516.6(GNAS):c.681G>T:p.Gln227His	coding	Pathogenic
20	58909552	C	T	C58909552T	GNAS	NM_000516.6(GNAS):c.691C>T:p.Arg231Cys	coding	Pathogenic
20	58909553	G	A	G58909553A	GNAS	NM_016592.4(GNAS):c.*598G>A	coding	Pathogenic
20	58909715	C	G	C58909715G	GNAS	NM_016592.4(GNAS):c.*656C>G	coding	Pathogenic
20	58909749	C	T	C58909749T	GNAS	NM_000516.6(GNAS):c.784C>T:p.Gln262Ter	coding	Pathogenic
20	58909805	G	C	G58909805C	GNAS	NM_000516.6(GNAS):c.839+1G>C	coding	Pathogenic
20	58910009	A	T	A58910009T	GNAS	NM_000516.6(GNAS):c.898A>T:p.Lys300Ter	coding	Pathogenic
20	58910062	C	T	C58910062T	GNAS	NM_000516.6(GNAS):c.951C>T:p.Arg317=	coding	Benign
20	58910332	A	G	A58910332G	GNAS	NM_000516.6(GNAS):c.971-2A>G	noncoding	Pathogenic
20	58910740	G	T	G58910740T	GNAS	NM_016592.4(GNAS):c.*1002G>T	coding	Pathogenic
20	58910807	T	G	T58910807G	GNAS	NM_016592.4(GNAS):c.*1069T>G	coding	Pathogenic
20	58910818	G	A	G58910818A	GNAS	NM_016592.4(GNAS):c.*1080G>A	coding	Pathogenic
20	58910818	G	T	G58910818T	GNAS	NM_016592.4(GNAS):c.*1080G>T	coding	Pathogenic
20	58993122	C	T	C58993122T	NELFCD	NM_198976.4(NELFCD):c.1344+10C>T	noncoding	Benign
20	58996763	G	C	G58996763C	CTSZ	NM_001336.4(CTSZ):c.677C>G:p.Thr226Ser	coding	Benign
20	58997654	A	G	A58997654G	CTSZ	NM_001336.4(CTSZ):c.587T>C:p.Leu196Pro	coding	Benign
20	58997670	C	T	C58997670T	CTSZ	NM_001336.4(CTSZ):c.571G>A:p.Gly191Arg	coding	Benign
20	59022871	C	T	C59022871T	TUBB1	NM_030773.4(TUBB1):c.84C>T:p.His28=	coding	Benign
20	59023745	C	G	C59023745G	TUBB1	NM_030773.3(TUBB1):c.318C>G:p.Tyr106Ter	coding	Pathogenic
20	59023793	C	T	C59023793T	TUBB1	NM_030773.4(TUBB1):c.366C>T:p.His122=	coding	Benign
20	59023823	C	G	C59023823G	TUBB1	NM_030773.4(TUBB1):c.396C>G:p.Gly132=	coding	Benign
20	59023906	C	T	C59023906T	TUBB1	NM_030773.3(TUBB1):c.479C>T:p.Pro160Leu	coding	Pathogenic
20	59024206	T	C	T59024206C	TUBB1	NM_030773.3(TUBB1):c.779T>C:p.Phe260Ser	coding	Pathogenic/Likely_pathogenic
20	59024343	C	T	C59024343T	TUBB1	NM_030773.4(TUBB1):c.916C>T:p.Arg306Cys	coding	Benign
20	59024346	C	T	C59024346T	TUBB1	NM_030773.4(TUBB1):c.919C>T:p.Arg307Cys	coding	Benign
20	59024472	G	A	G59024472A	TUBB1	NM_030773.4(TUBB1):c.1045G>A:p.Val349Ile	coding	Benign
20	59024502	C	T	C59024502T	TUBB1	NM_030773.3(TUBB1):c.1075C>T:p.Arg359Trp	coding	Benign/Likely_benign
20	59024732	T	C	T59024732C	TUBB1	NM_030773.4(TUBB1):c.1305T>C:p.Asp435=	coding	Benign
20	59030427	T	C	T59030427C	ATP5F1E	NM_006886.4(ATP5F1E):c.35A>G:p.Tyr12Cys	coding	Pathogenic
20	59031916	A	G	A59031916G	ATP5F1E	NM_006886.4(ATP5F1E):c.32+304T>C	noncoding	Benign
20	59032205	G	A	G59032205A	ATP5F1E	NM_006886.4(ATP5F1E):c.32+15C>T	noncoding	Benign
20	59032258	G	C	G59032258C	ATP5F1E	NM_006886.4(ATP5F1E):c.-7C>G	noncoding	Benign
20	59032276	G	A	G59032276A	ATP5F1E	NM_006886.4(ATP5F1E):c.-25C>T	noncoding	Benign
20	59032297	G	A	G59032297A	ATP5F1E	NM_006886.4(ATP5F1E):c.-46C>T	noncoding	Benign
20	59191166	C	A	C59191166A	ZNF831	NM_178457.2(ZNF831):c.147C>A:p.Ala49=	coding	Benign
20	59192632	G	A	G59192632A	ZNF831	NM_178457.2(ZNF831):c.1613G>A:p.Gly538Asp	coding	Benign
20	59192762	C	T	C59192762T	ZNF831	NM_178457.2(ZNF831):c.1743C>T:p.Pro581=	coding	Benign
20	59192888	C	T	C59192888T	ZNF831	NM_178457.2(ZNF831):c.1869C>T:p.Tyr623=	coding	Benign
20	59192905	A	G	A59192905G	ZNF831	NM_178457.2(ZNF831):c.1886A>G:p.Lys629Arg	coding	Benign
20	59193184	G	A	G59193184A	ZNF831	NM_178457.2(ZNF831):c.2165G>A:p.Arg722Gln	coding	Benign
20	59193362	G	A	G59193362A	ZNF831	NM_178457.2(ZNF831):c.2343G>A:p.Pro781=	coding	Benign
20	59193476	C	T	C59193476T	ZNF831	NM_178457.2(ZNF831):c.2457C>T:p.Pro819=	coding	Benign
20	59194684	A	G	A59194684G	ZNF831	NM_178457.2(ZNF831):c.3665A>G:p.Asn1222Ser	coding	Benign
20	59206976	G	A	G59206976A	ZNF831	NM_178457.2(ZNF831):c.3947G>A:p.Arg1316Gln	coding	Benign
20	59254472	C	T	C59254472T	ZNF831	NM_178457.2(ZNF831):c.4763C>T:p.Thr1588Met	coding	Benign
20	59300736	T	A	T59300736A	EDN3	NM_207034.3(EDN3):c.-77T>A	noncoding	Benign
20	59301634	C	G	C59301634G	EDN3	NM_207034.3(EDN3):c.277C>G:p.Arg93Gly	coding	Pathogenic
20	59301692	A	G	A59301692G	EDN3	NM_207034.3(EDN3):c.335A>G:p.His112Arg	coding	Pathogenic
20	59321077	G	A	G59321077A	EDN3	NM_207034.3(EDN3):c.426G>A:p.Ala142=	coding	Benign/Likely_benign
20	59321127	G	T	G59321127T	EDN3	NM_207034.3(EDN3):c.476G>T:p.Cys159Phe	coding	Pathogenic
20	59321158	C	A	C59321158A	EDN3	NM_207034.3(EDN3):c.507C>A:p.Cys169Ter	coding	Pathogenic
20	59321176	A	G	A59321176G	EDN3	NM_207034.3(EDN3):c.525A>G:p.Gln175=	coding	Benign/Likely_benign
20	59324605	C	T	C59324605T	EDN3	NM_207034.3(EDN3):c.*146C>T	noncoding	Benign
20	59324624	A	G	A59324624G	EDN3	NM_207034.3(EDN3):c.*165A>G	noncoding	Benign
20	59324630	G	A	G59324630A	EDN3	NM_207034.3(EDN3):c.*171G>A	noncoding	Benign
20	59325059	A	G	A59325059G	EDN3	NM_207034.3(EDN3):c.*600A>G	noncoding	Benign
20	59325323	C	G	C59325323G	EDN3	NM_207034.3(EDN3):c.*864C>G	noncoding	Benign
20	59325374	C	T	C59325374T	EDN3	NM_207034.3(EDN3):c.*915C>T	noncoding	Benign
20	59325416	C	T	C59325416T	EDN3	NM_207034.3(EDN3):c.*957C>T	noncoding	Benign
20	59325471	C	T	C59325471T	EDN3	NM_207034.3(EDN3):c.*1012C>T	noncoding	Benign
20	59866557	C	T	C59866557T	SYCP2	NM_014258.4(SYCP2):c.4158G>A:p.Thr1386=	coding	Benign
20	59867813	G	A	G59867813A	SYCP2	NM_014258.4(SYCP2):c.4023C>T:p.Asp1341=	coding	Benign
20	59877512	G	A	G59877512A	SYCP2	NM_014258.4(SYCP2):c.3023C>T:p.Pro1008Leu	coding	Benign
20	59880359	T	C	T59880359C	SYCP2	NM_014258.4(SYCP2):c.2885A>G:p.Gln962Arg	coding	Benign
20	59880392	A	G	A59880392G	SYCP2	NM_014258.4(SYCP2):c.2852T>C:p.Ile951Thr	coding	Benign
20	59886747	T	C	T59886747C	SYCP2	NM_014258.4(SYCP2):c.2452A>G:p.Ile818Val	coding	Benign
20	59892338	A	G	A59892338G	SYCP2	NM_014258.4(SYCP2):c.2016T>C:p.Tyr672=	coding	Benign
20	59919590	G	A	G59919590A	SYCP2	NM_014258.4(SYCP2):c.305C>T:p.Ala102Val	coding	Benign
20	59921383	A	G	A59921383G	SYCP2	NM_014258.4(SYCP2):c.95T>C:p.Ile32Thr	coding	Benign
20	61254865	G	A	G61254865A	CDH4	NM_001794.5(CDH4):c.97G>A:p.Ala33Thr	coding	Benign
20	61852870	C	T	C61852870T	CDH4	NM_001794.5(CDH4):c.849C>T:p.Asn283=	coding	Benign
20	61873882	G	A	G61873882A	CDH4	NM_001794.5(CDH4):c.1032G>A:p.Ala344=	coding	Benign
20	61910583	C	T	C61910583T	CDH4	NM_001794.5(CDH4):c.1350C>T:p.Asn450=	coding	Benign
20	61924326	C	T	C61924326T	CDH4	NM_001794.5(CDH4):c.1629-8C>T	noncoding	Benign
20	61928419	G	C	G61928419C	CDH4	NM_001794.5(CDH4):c.2001G>C:p.Leu667=	coding	Benign
20	61929676	C	T	C61929676T	CDH4	NM_001794.5(CDH4):c.2073C>T:p.Ile691=	coding	Benign
20	61932981	A	G	A61932981G	CDH4	NM_001794.5(CDH4):c.2240-4A>G	noncoding	Benign
20	61976327	G	A	G61976327A	TAF4	NM_003185.3(TAF4):c.3099C>T:p.Gly1033=	coding	Benign
20	62140809	G	A	G62140809A	PSMA7	NM_002792.4(PSMA7):c.223+9C>T	noncoding	Benign
20	62143844	C	T	C62143844T	SS18L1	NM_198935.3(SS18L1):c.24C>T:p.Ala8=	coding	Benign
20	62174536	G	A	G62174536A	SS18L1	NM_198935.3(SS18L1):c.1056G>A:p.Pro352=	coding	Benign
20	62216129	C	T	C62216129T	HRH3	NM_007232.3(HRH3):c.1215G>A:p.Ser405=	coding	Benign
20	62216312	G	A	G62216312A	HRH3	NM_007232.3(HRH3):c.1032C>T:p.Phe344=	coding	Benign
20	62219725	G	A	G62219725A	HRH3	NM_007232.3(HRH3):c.246C>T:p.Leu82=	coding	Benign
20	62259975	G	A	G62259975A	OSBPL2	NM_144498.3(OSBPL2):c.38-6G>A	noncoding	Benign/Likely_benign
20	62260019	G	A	G62260019A	OSBPL2	NM_144498.4(OSBPL2):c.76G>A:p.Ala26Thr	coding	Benign
20	62263649	C	T	C62263649T	OSBPL2	NM_144498.4(OSBPL2):c.216C>T:p.Ser72=	coding	Benign
20	62272030	C	T	C62272030T	OSBPL2	NM_144498.3(OSBPL2):c.259-95C>T	noncoding	Benign
20	62279326	C	T	C62279326T	OSBPL2	NM_144498.4(OSBPL2):c.661C>T:p.Leu221=	coding	Benign
20	62281225	G	A	G62281225A	OSBPL2	NM_144498.3(OSBPL2):c.782+60G>A	noncoding	Benign
20	62281799	T	G	T62281799G	OSBPL2	NM_144498.4(OSBPL2):c.792T>G:p.His264Gln	coding	Benign/Likely_benign
20	62281887	C	T	C62281887T	OSBPL2	NM_144498.3(OSBPL2):c.872+8C>T	noncoding	Benign
20	62286726	A	G	A62286726G	OSBPL2	NM_144498.4(OSBPL2):c.1125+15A>G	noncoding	Benign
20	62289198	G	A	G62289198A	OSBPL2	NM_144498.3(OSBPL2):c.1126-9G>A	noncoding	Benign
20	62289334	C	T	C62289334T	OSBPL2	NM_144498.4(OSBPL2):c.1249+4C>T	noncoding	Benign
20	62293779	C	T	C62293779T	OSBPL2	NM_144498.3(OSBPL2):c.1341-6C>T	noncoding	Benign
20	62293910	C	G	C62293910G	OSBPL2	NM_144498.4(OSBPL2):c.*23C>G	coding	Benign
20	62293910	C	T	C62293910T	OSBPL2	NM_144498.4(OSBPL2):c.*23C>T	coding	Benign
20	62303727	C	G	C62303727G	ADRM1	NM_007002.4(ADRM1):c.159C>G:p.Asp53Glu	coding	Benign
20	62307707	G	A	G62307707A	ADRM1	NM_007002.4(ADRM1):c.735G>A:p.Ala245=	coding	Benign
20	62307770	C	T	C62307770T	ADRM1	NM_007002.4(ADRM1):c.798C>T:p.Asp266=	coding	Benign
20	62308109	A	G	A62308109G	ADRM1	NM_007002.4(ADRM1):c.945A>G:p.Pro315=	coding	Benign
20	62308135	C	T	C62308135T	ADRM1	NM_007002.4(ADRM1):c.971C>T:p.Ala324Val	coding	Benign
20	62309357	G	A	G62309357A	LAMA5	NM_005560.6(LAMA5):c.11067C>T:p.Ala3689=	coding	Benign
20	62309417	C	T	C62309417T	LAMA5	NM_005560.6(LAMA5):c.11007G>A:p.Ala3669=	coding	Benign
20	62309427	C	T	C62309427T	LAMA5	NM_005560.6(LAMA5):c.10997G>A:p.Arg3666Lys	coding	Benign
20	62309796	G	A	G62309796A	LAMA5	NM_005560.6(LAMA5):c.10868C>T:p.Ala3623Val	coding	Benign
20	62309824	C	G	C62309824G	LAMA5	NM_005560.6(LAMA5):c.10840G>C:p.Gly3614Arg	coding	Benign
20	62310922	G	T	G62310922T	LAMA5	NM_005560.6(LAMA5):c.10261C>A:p.Arg3421=	coding	Benign
20	62311090	T	C	T62311090C	LAMA5	NM_005560.6(LAMA5):c.10093A>G:p.Ser3365Gly	coding	Benign
20	62311248	G	C	G62311248C	LAMA5	NM_005560.6(LAMA5):c.10002C>G:p.Leu3334=	coding	Benign
20	62311315	C	A	C62311315A	LAMA5	NM_005560.6(LAMA5):c.9943-8G>T	noncoding	Benign
20	62311405	C	T	C62311405T	LAMA5	NM_005560.6(LAMA5):c.9938G>A:p.Arg3313Gln	coding	Benign
20	62311687	G	A	G62311687A	LAMA5	NM_005560.6(LAMA5):c.9733C>T:p.Leu3245Phe	coding	Benign
20	62312287	G	A	G62312287A	LAMA5	NM_005560.6(LAMA5):c.9390C>T:p.His3130=	coding	Benign
20	62312903	G	A	G62312903A	LAMA5	NM_005560.6(LAMA5):c.9063C>T:p.Thr3021=	coding	Benign
20	62312933	G	A	G62312933A	LAMA5	NM_005560.6(LAMA5):c.9033C>T:p.Ala3011=	coding	Benign
20	62313083	C	T	C62313083T	LAMA5	NM_005560.6(LAMA5):c.8955+5G>A	noncoding	Benign
20	62313145	G	A	G62313145A	LAMA5	NM_005560.6(LAMA5):c.8898C>T:p.Phe2966=	coding	Benign
20	62313186	G	A	G62313186A	LAMA5	NM_005560.6(LAMA5):c.8857C>T:p.Arg2953Cys	coding	Benign
20	62313211	G	A	G62313211A	LAMA5	NM_005560.6(LAMA5):c.8832C>T:p.Ser2944=	coding	Benign
20	62313259	C	T	C62313259T	LAMA5	NM_005560.6(LAMA5):c.8793-9G>A	noncoding	Benign
20	62314904	C	G	C62314904G	LAMA5	NM_005560.6(LAMA5):c.8091G>C:p.Leu2697=	coding	Benign
20	62314955	G	C	G62314955C	LAMA5	NM_005560.6(LAMA5):c.8048-8C>G	noncoding	Benign
20	62316771	C	G	C62316771G	LAMA5	NM_005560.6(LAMA5):c.7656G>C:p.Thr2552=	coding	Benign
20	62317408	C	T	C62317408T	LAMA5	NM_005560.6(LAMA5):c.7448G>A:p.Arg2483His	coding	Benign
20	62317482	G	A	G62317482A	LAMA5	NM_005560.6(LAMA5):c.7374C>T:p.Ala2458=	coding	Benign
20	62317704	G	A	G62317704A	LAMA5	NM_005560.6(LAMA5):c.7314C>T:p.Ala2438=	coding	Benign
20	62317713	G	A	G62317713A	LAMA5	NM_005560.6(LAMA5):c.7305C>T:p.Asp2435=	coding	Benign
20	62318482	C	G	C62318482G	LAMA5	NM_005560.6(LAMA5):c.7211G>C:p.Arg2404Pro	coding	Benign
20	62318514	G	A	G62318514A	LAMA5	NM_005560.6(LAMA5):c.7179C>T:p.Asp2393=	coding	Benign
20	62318555	C	T	C62318555T	LAMA5	NM_005560.6(LAMA5):c.7138G>A:p.Gly2380Ser	coding	Benign
20	62318556	G	A	G62318556A	LAMA5	NM_005560.6(LAMA5):c.7137C>T:p.Ala2379=	coding	Benign
20	62318575	C	T	C62318575T	LAMA5	NM_005560.6(LAMA5):c.7118G>A:p.Arg2373Gln	coding	Benign
20	62318634	C	T	C62318634T	LAMA5	NM_005560.6(LAMA5):c.7059G>A:p.Gln2353=	coding	Benign/Likely_benign
20	62318641	C	T	C62318641T	LAMA5	NM_005560.6(LAMA5):c.7052G>A:p.Arg2351Gln	coding	Benign
20	62318998	G	A	G62318998A	LAMA5	NM_005560.6(LAMA5):c.6887C>T:p.Thr2296Met	coding	Benign
20	62319736	G	T	G62319736T	LAMA5	NM_005560.6(LAMA5):c.6819C>A:p.Gly2273=	coding	Benign
20	62319800	G	A	G62319800A	LAMA5	NM_005560.6(LAMA5):c.6760-5C>T	noncoding	Benign
20	62320564	C	T	C62320564T	LAMA5	NM_005560.6(LAMA5):c.6754G>A:p.Gly2252Ser	coding	Benign
20	62320578	G	A	G62320578A	LAMA5	NM_005560.6(LAMA5):c.6740C>T:p.Ala2247Val	coding	Benign
20	62320750	C	T	C62320750T	LAMA5	NM_005560.6(LAMA5):c.6637G>A:p.Ala2213Thr	coding	Benign
20	62323574	G	A	G62323574A	LAMA5	NM_005560.6(LAMA5):c.5946C>T:p.Ser1982=	coding	Benign
20	62323613	G	A	G62323613A	LAMA5	NM_005560.6(LAMA5):c.5907C>T:p.Cys1969=	coding	Benign
20	62323835	C	T	C62323835T	LAMA5	NM_005560.6(LAMA5):c.5790G>A:p.Leu1930=	coding	Benign
20	62323853	G	A	G62323853A	LAMA5	NM_005560.6(LAMA5):c.5772C>T:p.Phe1924=	coding	Benign
20	62324135	C	T	C62324135T	LAMA5	NM_005560.6(LAMA5):c.5713G>A:p.Asp1905Asn	coding	Benign
20	62324139	C	T	C62324139T	LAMA5	NM_005560.6(LAMA5):c.5709G>A:p.Arg1903=	coding	Benign
20	62324457	C	A	C62324457A	LAMA5	NM_005560.6(LAMA5):c.5627G>T:p.Gly1876Val	coding	Benign
20	62326931	C	G	C62326931G	LAMA5	NM_005560.6(LAMA5):c.5148G>C:p.Leu1716=	coding	Benign
20	62326955	G	A	G62326955A	LAMA5	NM_005560.6(LAMA5):c.5124C>T:p.Tyr1708=	coding	Benign
20	62327906	G	A	G62327906A	LAMA5	NM_005560.6(LAMA5):c.4757C>T:p.Pro1586Leu	coding	Benign
20	62327909	G	A	G62327909A	LAMA5	NM_005560.6(LAMA5):c.4754C>T:p.Ala1585Val	coding	Benign
20	62327985	G	A	G62327985A	LAMA5	NM_005560.6(LAMA5):c.4678C>T:p.Arg1560Cys	coding	Benign
20	62328980	T	A	T62328980A	LAMA5	NM_005560.6(LAMA5):c.4311A>T:p.Pro1437=	coding	Benign
20	62329040	G	A	G62329040A	LAMA5	NM_005560.6(LAMA5):c.4251C>T:p.Ser1417=	coding	Benign
20	62330867	G	A	G62330867A	LAMA5	NM_005560.5(LAMA5):c.3728C>T:p.Pro1243Leu	coding	Pathogenic
20	62330940	C	T	C62330940T	LAMA5	NM_005560.6(LAMA5):c.3655G>A:p.Ala1219Thr	coding	Benign
20	62332386	C	A	C62332386A	LAMA5	NM_005560.6(LAMA5):c.3538G>T:p.Ala1180Ser	coding	Benign
20	62332705	G	A	G62332705A	LAMA5	NM_005560.6(LAMA5):c.3295C>T:p.Leu1099Phe	coding	Benign
20	62332725	G	C	G62332725C	LAMA5	NM_005560.6(LAMA5):c.3283-8C>G	noncoding	Benign
20	62333120	G	A	G62333120A	LAMA5	NM_005560.6(LAMA5):c.3252C>T:p.His1084=	coding	Benign
20	62333437	G	A	G62333437A	LAMA5	NM_005560.6(LAMA5):c.3066C>T:p.Leu1022=	coding	Benign
20	62333666	C	T	C62333666T	LAMA5	NM_005560.6(LAMA5):c.2919G>A:p.Thr973=	coding	Benign
20	62334337	G	A	G62334337A	LAMA5	NM_005560.6(LAMA5):c.2588C>T:p.Ala863Val	coding	Benign
20	62335121	G	A	G62335121A	LAMA5	NM_005560.6(LAMA5):c.2382C>T:p.Thr794=	coding	Benign
20	62335226	C	T	C62335226T	LAMA5	NM_005560.6(LAMA5):c.2367G>A:p.Glu789=	coding	Benign
20	62337628	G	A	G62337628A	LAMA5	NM_005560.6(LAMA5):c.2126C>T:p.Thr709Ile	coding	Benign
20	62337705	G	C	G62337705C	LAMA5	NM_005560.6(LAMA5):c.2049C>G:p.Gly683=	coding	Benign
20	62337823	G	A	G62337823A	LAMA5	NM_005560.6(LAMA5):c.2007C>T:p.His669=	coding	Benign
20	62338008	C	T	C62338008T	LAMA5	NM_005560.6(LAMA5):c.1891+8G>A	noncoding	Benign
20	62338118	C	T	C62338118T	LAMA5	NM_005560.6(LAMA5):c.1789G>A:p.Glu597Lys	coding	Benign
20	62338545	C	T	C62338545T	LAMA5	NM_005560.6(LAMA5):c.1541G>A:p.Arg514His	coding	Benign
20	62338612	G	C	G62338612C	LAMA5	NM_005560.6(LAMA5):c.1478-4C>G	noncoding	Benign
20	62345852	G	A	G62345852A	LAMA5	NM_005560.6(LAMA5):c.1443C>T:p.Thr481=	coding	Benign
20	62346199	G	A	G62346199A	LAMA5	NM_005560.6(LAMA5):c.1299C>T:p.Ser433=	coding	Benign
20	62346739	G	A	G62346739A	LAMA5	NM_005560.6(LAMA5):c.1134C>T:p.Arg378=	coding	Benign
20	62351710	G	A	G62351710A	LAMA5	NM_005560.6(LAMA5):c.950C>T:p.Pro317Leu	coding	Benign
20	62352291	G	A	G62352291A	LAMA5	NM_005560.6(LAMA5):c.638C>T:p.Ala213Val	coding	Benign
20	62465928	G	A	G62465928A	GATA5	NM_080473.5(GATA5):c.826-7C>T	noncoding	Benign
20	62466417	C	A	C62466417A	GATA5	NM_080473.5(GATA5):c.825+9G>T	noncoding	Benign
20	62466434	G	A	G62466434A	GATA5	NM_080473.5(GATA5):c.817C>T:p.Leu273=	coding	Benign
20	62473504	A	C	A62473504C	GATA5	NM_080473.5(GATA5):c.598T>G:p.Trp200Gly	coding	Pathogenic
20	62473507	G	C	G62473507C	GATA5	NM_080473.5(GATA5):c.595C>G:p.Leu199Val	coding	Pathogenic
20	62473533	A	G	A62473533G	GATA5	NM_080473.5(GATA5):c.569T>C:p.Val190Ala	coding	Pathogenic
20	62475030	C	G	C62475030G	GATA5	NM_080473.5(GATA5):c.492G>C:p.Leu164=	coding	Benign
20	62475476	A	C	A62475476C	GATA5	NM_080473.5(GATA5):c.46T>G:p.Tyr16Asp	coding	Pathogenic
20	62709324	G	A	G62709324A	NTSR1	NM_002531.3(NTSR1):c.117G>A:p.Ser39=	coding	Benign
20	62709342	C	T	C62709342T	NTSR1	NM_002531.3(NTSR1):c.135C>T:p.Arg45=	coding	Benign
20	62709380	C	T	C62709380T	NTSR1	NM_002531.3(NTSR1):c.173C>T:p.Thr58Ile	coding	Benign
20	62709422	C	T	C62709422T	NTSR1	NM_002531.3(NTSR1):c.215C>T:p.Ala72Val	coding	Benign
20	62754795	A	C	A62754795C	NTSR1	NM_002531.3(NTSR1):c.825A>C:p.Gln275His	coding	Benign
20	62754873	C	T	C62754873T	NTSR1	NM_002531.3(NTSR1):c.903C>T:p.Gly301=	coding	Benign
20	62758260	C	A	C62758260A	NTSR1	NM_002531.3(NTSR1):c.917-6C>A	noncoding	Benign
20	62760026	A	G	A62760026G	NTSR1	NM_002531.3(NTSR1):c.1016A>G:p.Tyr339Cys	coding	Benign
20	62760031	T	C	T62760031C	NTSR1	NM_002531.3(NTSR1):c.1021T>C:p.Phe341Leu	coding	Benign
20	62760172	C	T	C62760172T	NTSR1	NM_002531.3(NTSR1):c.1162C>T:p.Arg388Cys	coding	Benign
20	62817114	G	A	G62817114A	COL9A3	NM_001853.4(COL9A3):c.50G>A:p.Gly17Glu	coding	Benign
20	62817581	C	A	C62817581A	COL9A3	NM_001853.4(COL9A3):c.93C>A:p.Pro31=	coding	Benign
20	62817617	C	T	C62817617T	COL9A3	NM_001853.4(COL9A3):c.129C>T:p.Pro43=	coding	Benign
20	62818516	A	T	A62818516T	COL9A3	NM_001853.4(COL9A3):c.148-2A>T	noncoding	Pathogenic
20	62818517	G	A	G62818517A	COL9A3	NM_001853.4(COL9A3):c.148-1G>A	noncoding	Pathogenic
20	62818558	G	A	G62818558A	COL9A3	NM_001853.4(COL9A3):c.183+5G>A	noncoding	Pathogenic
20	62819247	C	T	C62819247T	COL9A3	NM_001853.4(COL9A3):c.209C>T:p.Pro70Leu	coding	Benign
20	62819953	C	T	C62819953T	COL9A3	NM_001853.4(COL9A3):c.280C>T:p.Pro94Ser	coding	Benign
20	62819980	C	T	C62819980T	COL9A3	NM_001853.4(COL9A3):c.307C>T:p.Arg103Trp	coding	Benign
20	62819981	G	A	G62819981A	COL9A3	NM_001853.4(COL9A3):c.308G>A:p.Arg103Gln	coding	Benign
20	62820911	C	G	C62820911G	COL9A3	NM_001853.4(COL9A3):c.310-270C>G	noncoding	Benign
20	62821196	C	T	C62821196T	COL9A3	NM_001853.4(COL9A3):c.325C>T:p.Pro109Ser	coding	Benign/Likely_benign
20	62821485	G	A	G62821485A	COL9A3	NM_001853.4(COL9A3):c.346-22G>A	noncoding	Benign
20	62821532	T	C	T62821532C	COL9A3	NM_001853.4(COL9A3):c.369+2T>C	noncoding	Pathogenic
20	62821797	T	C	T62821797C	COL9A3	NM_001853.4(COL9A3):c.410T>C:p.Leu137Pro	coding	Benign/Likely_benign
20	62821996	T	G	T62821996G	COL9A3	NM_001853.4(COL9A3):c.424-115T>G	noncoding	Benign
20	62822155	C	T	C62822155T	COL9A3	NM_001853.4(COL9A3):c.468C>T:p.Pro156=	coding	Benign
20	62822197	G	A	G62822197A	COL9A3	NM_001853.4(COL9A3):c.477+33G>A	noncoding	Benign
20	62822403	G	A	G62822403A	COL9A3	NM_001853.4(COL9A3):c.478-188G>A	noncoding	Benign
20	62824314	A	G	A62824314G	COL9A3	NM_001853.4(COL9A3):c.520-131A>G	noncoding	Benign
20	62824439	C	T	C62824439T	COL9A3	NM_001853.4(COL9A3):c.520-6C>T	noncoding	Benign
20	62824471	C	T	C62824471T	COL9A3	NM_001853.4(COL9A3):c.546C>T:p.Pro182=	coding	Benign
20	62824511	G	A	G62824511A	COL9A3	NM_001853.4(COL9A3):c.576+10G>A	noncoding	Benign
20	62824709	G	A	G62824709A	COL9A3	NM_001853.4(COL9A3):c.576+208G>A	noncoding	Benign
20	62825772	G	A	G62825772A	COL9A3	NM_001853.4(COL9A3):c.631-45G>A	noncoding	Benign
20	62826200	G	T	G62826200T	COL9A3	NM_001853.4(COL9A3):c.685-4G>T	noncoding	Benign
20	62826759	C	T	C62826759T	COL9A3	NM_001853.4(COL9A3):c.739-8C>T	noncoding	Benign
20	62826783	G	A	G62826783A	COL9A3	NM_001853.4(COL9A3):c.755G>A:p.Arg252Gln	coding	Benign/Likely_benign
20	62826839	G	A	G62826839A	COL9A3	NM_001853.4(COL9A3):c.792+19G>A	noncoding	Benign
20	62827195	A	T	A62827195T	COL9A3	NM_001853.4(COL9A3):c.793-46A>T	noncoding	Benign
20	62827531	A	G	A62827531G	COL9A3	NM_001853.4(COL9A3):c.846+237A>G	noncoding	Benign
20	62827776	C	A	C62827776A	COL9A3	NM_001853.4(COL9A3):c.847-147C>A	noncoding	Benign
20	62827963	C	T	C62827963T	COL9A3	NM_001853.4(COL9A3):c.887C>T:p.Pro296Leu	coding	Benign
20	62827967	C	T	C62827967T	COL9A3	NM_001853.4(COL9A3):c.891C>T:p.Ser297=	coding	Benign/Likely_benign
20	62828701	A	G	A62828701G	COL9A3	NM_001853.4(COL9A3):c.901-63A>G	noncoding	Benign
20	62828737	C	T	C62828737T	COL9A3	NM_001853.4(COL9A3):c.901-27C>T	noncoding	Benign
20	62828755	T	C	T62828755C	COL9A3	NM_001853.4(COL9A3):c.901-9T>C	noncoding	Benign
20	62828772	G	A	G62828772A	COL9A3	NM_001853.4(COL9A3):c.909G>A:p.Pro303=	coding	Benign
20	62828986	C	T	C62828986T	COL9A3	NM_001853.4(COL9A3):c.1008+10C>T	noncoding	Benign
20	62828988	G	C	G62828988C	COL9A3	NM_001853.4(COL9A3):c.1008+12G>C	noncoding	Benign
20	62829388	G	A	G62829388A	COL9A3	NM_001853.4(COL9A3):c.1009-67G>A	noncoding	Benign
20	62830546	C	A	C62830546A	COL9A3	NM_001853.4(COL9A3):c.1245C>A:p.Gly415=	coding	Benign
20	62832003	G	A	G62832003A	COL9A3	NM_001853.4(COL9A3):c.1288-151G>A	noncoding	Benign
20	62832149	T	C	T62832149C	COL9A3	NM_001853.4(COL9A3):c.1288-5T>C	noncoding	Benign
20	62832170	C	A	C62832170A	COL9A3	NM_001853.4(COL9A3):c.1304C>A:p.Ala435Glu	coding	Benign
20	62832415	C	T	C62832415T	COL9A3	NM_001853.4(COL9A3):c.1323+226C>T	noncoding	Benign
20	62832832	C	T	C62832832T	COL9A3	NM_001853.4(COL9A3):c.1324-188C>T	noncoding	Benign
20	62833023	A	G	A62833023G	COL9A3	NM_001853.4(COL9A3):c.1327A>G:p.Ile443Val	coding	Benign
20	62833088	G	A	G62833088A	COL9A3	NM_001853.4(COL9A3):c.1368+24G>A	noncoding	Benign
20	62833145	G	A	G62833145A	COL9A3	NM_001853.4(COL9A3):c.1368+81G>A	noncoding	Benign
20	62836178	C	T	C62836178T	COL9A3	NM_001853.4(COL9A3):c.1402-9C>T	noncoding	Benign
20	62836196	C	T	C62836196T	COL9A3	NM_001853.4(COL9A3):c.1411C>T:p.Arg471Ter	coding	Pathogenic
20	62836212	C	G	C62836212G	COL9A3	NM_001853.4(COL9A3):c.1427C>G:p.Pro476Arg	coding	Benign/Likely_benign
20	62836234	C	T	C62836234T	COL9A3	NM_001853.4(COL9A3):c.1449C>T:p.Asn483=	coding	Benign
20	62836261	C	T	C62836261T	COL9A3	NM_001853.4(COL9A3):c.1476C>T:p.Pro492=	coding	Benign
20	62836349	G	A	G62836349A	COL9A3	NM_001853.4(COL9A3):c.1548+16G>A	noncoding	Benign
20	62836448	A	G	A62836448G	COL9A3	NM_001853.4(COL9A3):c.1549-30A>G	noncoding	Benign
20	62836474	C	A	C62836474A	COL9A3	NM_001853.4(COL9A3):c.1549-4C>A	noncoding	Benign
20	62836490	A	G	A62836490G	COL9A3	NM_001853.4(COL9A3):c.1561A>G:p.Ser521Gly	coding	Benign
20	62836546	G	C	G62836546C	COL9A3	NM_001853.4(COL9A3):c.1603+14G>C	noncoding	Benign
20	62836712	G	A	G62836712A	COL9A3	NM_001853.4(COL9A3):c.1603+180G>A	noncoding	Benign
20	62837100	G	A	G62837100A	COL9A3	NM_001853.4(COL9A3):c.1621G>A:p.Ala541Thr	coding	Benign
20	62837205	G	A	G62837205A	COL9A3	NM_001853.4(COL9A3):c.1726G>A:p.Ala576Thr	coding	Benign/Likely_benign
20	62837219	T	C	T62837219C	COL9A3	NM_001853.4(COL9A3):c.1740T>C:p.Pro580=	coding	Benign
20	62838713	G	A	G62838713A	COL9A3	NM_001853.4(COL9A3):c.1816G>A:p.Ala606Thr	coding	Benign
20	62840573	C	T	C62840573T	COL9A3	NM_001853.4(COL9A3):c.1896C>T:p.Asp632=	coding	Benign/Likely_benign
20	62840687	C	T	C62840687T	COL9A3	NM_001853.4(COL9A3):c.2010C>T:p.Ala670=	coding	Benign
20	62840721	C	A	C62840721A	COL9A3	NM_001853.4(COL9A3):c.2044C>A:p.Arg682=	coding	Benign
20	62840741	G	A	G62840741A	COL9A3	NM_001853.4(COL9A3):c.*9G>A	noncoding	Benign
20	62880806	C	T	C62880806T	DIDO1	NM_001193369.2(DIDO1):c.5150G>A:p.Gly1717Asp	coding	Benign
20	62880840	G	C	G62880840C	DIDO1	NM_001193369.2(DIDO1):c.5116C>G:p.Leu1706Val	coding	Benign
20	62881068	C	T	C62881068T	DIDO1	NM_001193369.2(DIDO1):c.4888G>A:p.Glu1630Lys	coding	Benign
20	62881627	G	A	G62881627A	DIDO1	NM_001193369.2(DIDO1):c.4329C>T:p.Asp1443=	coding	Benign
20	62881941	T	A	T62881941A	DIDO1	NM_001193369.2(DIDO1):c.4015A>T:p.Thr1339Ser	coding	Benign
20	62892944	G	A	G62892944A	DIDO1	NM_001193369.2(DIDO1):c.3120C>T:p.Ser1040=	coding	Benign
20	62894136	A	G	A62894136G	DIDO1	NM_001193369.2(DIDO1):c.2631T>C:p.Ser877=	coding	Benign
20	62896974	G	A	G62896974A	DIDO1	NM_001193369.2(DIDO1):c.1611C>T:p.Ser537=	coding	Benign
20	62910812	G	A	G62910812A	DIDO1	NM_001193369.2(DIDO1):c.801C>T:p.Asn267=	coding	Benign
20	62911205	T	C	T62911205C	DIDO1	NM_001193369.2(DIDO1):c.408A>G:p.Pro136=	coding	Benign
20	62952855	C	T	C62952855T	SLC17A9	NM_022082.4(SLC17A9):c.25C>T:p.Arg9Cys	coding	Pathogenic
20	62956963	G	T	G62956963T	SLC17A9	NM_022082.4(SLC17A9):c.257+1G>T	coding	Benign
20	62956964	T	C	T62956964C	SLC17A9	NM_022082.4(SLC17A9):c.257+2T>C	noncoding	Benign
20	62962680	G	C	G62962680C	SLC17A9	NM_022082.4(SLC17A9):c.554G>C:p.Ser185Thr	coding	Benign
20	62963266	C	T	C62963266T	SLC17A9	NM_022082.4(SLC17A9):c.629-7C>T	noncoding	Benign
20	62965153	G	A	G62965153A	SLC17A9	NM_022082.4(SLC17A9):c.932G>A:p.Arg311Gln	coding	Pathogenic
20	62966741	C	T	C62966741T	SLC17A9	NM_022082.4(SLC17A9):c.1147+9C>T	noncoding	Benign
20	63202449	G	A	G63202449A	YTHDF1	NM_017798.4(YTHDF1):c.1491C>T:p.Asn497=	coding	Benign
20	63202482	A	G	A63202482G	YTHDF1	NM_017798.4(YTHDF1):c.1458T>C:p.Asn486=	coding	Benign
20	63202521	C	T	C63202521T	YTHDF1	NM_017798.4(YTHDF1):c.1419G>A:p.Lys473=	coding	Benign
20	63202817	G	A	G63202817A	YTHDF1	NM_017798.4(YTHDF1):c.1123C>T:p.His375Tyr	coding	Benign
20	63203184	G	A	G63203184A	YTHDF1	NM_017798.4(YTHDF1):c.756C>T:p.Ser252=	coding	Benign
20	63203355	G	A	G63203355A	YTHDF1	NM_017798.4(YTHDF1):c.585C>T:p.Val195=	coding	Benign
20	63203505	G	A	G63203505A	YTHDF1	NM_017798.4(YTHDF1):c.435C>T:p.Ser145=	coding	Benign
20	63238597	C	G	C63238597G	BIRC7	NM_139317.3(BIRC7):c.560C>G:p.Ala187Gly	coding	Benign
20	63239194	C	T	C63239194T	BIRC7	NM_139317.3(BIRC7):c.610C>T:p.Pro204Ser	coding	Benign
20	63305966	G	A	G63305966A	COL20A1	NM_020882.3(COL20A1):c.423G>A:p.Thr141=	coding	Benign
20	63308630	G	A	G63308630A	COL20A1	NM_020882.3(COL20A1):c.864G>A:p.Thr288=	coding	Benign
20	63346877	C	T	C63346877T	CHRNA4	NM_000744.6(CHRNA4):c.1759-14G>A	noncoding	Benign
20	63347172	T	C	T63347172C	CHRNA4	NM_000744.6(CHRNA4):c.1759-309A>G	noncoding	Benign
20	63349461	C	G	C63349461G	CHRNA4	NM_000744.6(CHRNA4):c.1758+192G>C	noncoding	Benign
20	63349462	G	A	G63349462A	CHRNA4	NM_000744.6(CHRNA4):c.1758+191C>T	noncoding	Benign
20	63349637	C	T	C63349637T	CHRNA4	NM_000744.6(CHRNA4):c.1758+16G>A	noncoding	Benign
20	63349639	T	C	T63349639C	CHRNA4	NM_000744.6(CHRNA4):c.1758+14A>G	noncoding	Benign
20	63349642	G	A	G63349642A	CHRNA4	NM_000744.6(CHRNA4):c.1758+11C>T	noncoding	Benign
20	63349746	G	A	G63349746A	CHRNA4	NM_000744.7(CHRNA4):c.1665C>T:p.Pro555=	coding	Benign
20	63349749	C	T	C63349749T	CHRNA4	NM_000744.7(CHRNA4):c.1662G>A:p.Pro554=	coding	Benign/Likely_benign
20	63349752	C	T	C63349752T	CHRNA4	NM_000744.7(CHRNA4):c.1659G>A:p.Ala553=	coding	Benign
20	63349782	G	A	G63349782A	CHRNA4	NM_000744.7(CHRNA4):c.1629C>T:p.Ser543=	coding	Benign
20	63349827	C	T	C63349827T	CHRNA4	NM_000744.7(CHRNA4):c.1584G>A:p.Pro528=	coding	Benign/Likely_benign
20	63349861	G	A	G63349861A	CHRNA4	NM_000744.7(CHRNA4):c.1550C>T:p.Ser517Leu	coding	Benign/Likely_benign
20	63349887	G	A	G63349887A	CHRNA4	NM_000744.7(CHRNA4):c.1524C>T:p.Gly508=	coding	Benign
20	63349980	C	T	C63349980T	CHRNA4	NM_000744.7(CHRNA4):c.1431G>A:p.Ala477=	coding	Benign/Likely_benign
20	63350010	G	A	G63350010A	CHRNA4	NM_000744.7(CHRNA4):c.1401C>T:p.Ser467=	coding	Benign/Likely_benign
20	63350052	G	A	G63350052A	CHRNA4	NM_000744.7(CHRNA4):c.1359C>T:p.His453=	coding	Benign/Likely_benign
20	63350058	C	T	C63350058T	CHRNA4	NM_000744.7(CHRNA4):c.1353G>A:p.Pro451=	coding	Benign/Likely_benign
20	63350059	G	A	G63350059A	CHRNA4	NM_000744.7(CHRNA4):c.1352C>T:p.Pro451Leu	coding	Benign/Likely_benign
20	63350184	A	G	A63350184G	CHRNA4	NM_000744.7(CHRNA4):c.1227T>C:p.Cys409=	coding	Benign
20	63350202	C	A	C63350202A	CHRNA4	NM_000744.7(CHRNA4):c.1209G>T:p.Pro403=	coding	Benign
20	63350253	G	C	G63350253C	CHRNA4	NM_000744.7(CHRNA4):c.1158C>G:p.Pro386=	coding	Benign
20	63350268	G	A	G63350268A	CHRNA4	NM_000744.7(CHRNA4):c.1143C>T:p.Ala381=	coding	Benign/Likely_benign
20	63350295	G	A	G63350295A	CHRNA4	NM_000744.7(CHRNA4):c.1116C>T:p.Ile372=	coding	Benign/Likely_benign
20	63350316	C	T	C63350316T	CHRNA4	NM_000744.7(CHRNA4):c.1095G>A:p.Lys365=	coding	Benign
20	63350358	G	A	G63350358A	CHRNA4	NM_000744.7(CHRNA4):c.1053C>T:p.Ile351=	coding	Benign/Likely_benign
20	63350364	C	T	C63350364T	CHRNA4	NM_000744.7(CHRNA4):c.1047G>A:p.Leu349=	coding	Benign/Likely_benign
20	63350433	G	A	G63350433A	CHRNA4	NM_000744.7(CHRNA4):c.978C>T:p.Phe326=	coding	Benign/Likely_benign
20	63350463	G	A	G63350463A	CHRNA4	NM_000744.7(CHRNA4):c.948C>T:p.Phe316=	coding	Benign
20	63350533	G	A	G63350533A	CHRNA4	NM_000744.7(CHRNA4):c.878C>T:p.Thr293Ile	coding	Pathogenic
20	63350535	G	A	G63350535A	CHRNA4	NM_000744.7(CHRNA4):c.876C>T:p.Ile292=	coding	Benign/Likely_benign
20	63350553	G	A	G63350553A	CHRNA4	NM_000744.7(CHRNA4):c.858C>T:p.Thr286=	coding	Benign/Likely_benign
20	63350560	G	A	G63350560A	CHRNA4	NM_000744.7(CHRNA4):c.851C>T:p.Ser284Leu	coding	Pathogenic
20	63350572	G	A	G63350572A	CHRNA4	NM_000744.7(CHRNA4):c.839C>T:p.Ser280Phe	coding	Pathogenic
20	63350583	C	T	C63350583T	CHRNA4	NM_000744.7(CHRNA4):c.828G>A:p.Thr276=	coding	Benign
20	63350700	G	A	G63350700A	CHRNA4	NM_000744.6(CHRNA4):c.711C>T:p.Phe237=	coding	Benign
20	63350733	A	G	A63350733G	CHRNA4	NM_000744.7(CHRNA4):c.678T>C:p.Cys226=	coding	Benign
20	63350772	A	G	A63350772G	CHRNA4	NM_000744.7(CHRNA4):c.639T>C:p.Asp213=	coding	Benign
20	63350901	G	A	G63350901A	CHRNA4	NM_000744.7(CHRNA4):c.510C>T:p.Phe170=	coding	Benign/Likely_benign
20	63350919	G	A	G63350919A	CHRNA4	NM_000744.7(CHRNA4):c.492C>T:p.Asp164=	coding	Benign/Likely_benign
20	63350949	C	T	C63350949T	CHRNA4	NM_000744.7(CHRNA4):c.462G>A:p.Pro154=	coding	Benign
20	63351009	C	T	C63351009T	CHRNA4	NM_000744.7(CHRNA4):c.402G>A:p.Ala134=	coding	Benign/Likely_benign
20	63351038	A	C	A63351038C	CHRNA4	NM_000744.6(CHRNA4):c.384-11T>G	noncoding	Benign
20	63351050	G	A	G63351050A	CHRNA4	NM_000744.6(CHRNA4):c.384-23C>T	noncoding	Benign
20	63351144	T	C	T63351144C	CHRNA4	NM_000744.6(CHRNA4):c.384-117A>G	noncoding	Benign
20	63351180	T	G	T63351180G	CHRNA4	NM_000744.6(CHRNA4):c.384-153A>C	noncoding	Benign
20	63351184	T	C	T63351184C	CHRNA4	NM_000744.6(CHRNA4):c.384-157A>G	noncoding	Benign
20	63351193	C	T	C63351193T	CHRNA4	NM_000744.6(CHRNA4):c.384-166G>A	noncoding	Benign
20	63351198	A	G	A63351198G	CHRNA4	NM_000744.6(CHRNA4):c.384-171T>C	noncoding	Benign
20	63351204	A	G	A63351204G	CHRNA4	NM_000744.6(CHRNA4):c.384-177T>C	noncoding	Benign
20	63351211	T	C	T63351211C	CHRNA4	NM_000744.6(CHRNA4):c.384-184A>G	noncoding	Benign
20	63351216	G	A	G63351216A	CHRNA4	NM_000744.6(CHRNA4):c.384-189C>T	noncoding	Benign
20	63351223	C	T	C63351223T	CHRNA4	NM_000744.6(CHRNA4):c.384-196G>A	noncoding	Benign
20	63351228	A	G	A63351228G	CHRNA4	NM_000744.6(CHRNA4):c.384-201T>C	noncoding	Benign
20	63351229	T	G	T63351229G	CHRNA4	NM_000744.6(CHRNA4):c.384-202A>C	noncoding	Benign
20	63351238	A	C	A63351238C	CHRNA4	NM_000744.6(CHRNA4):c.384-211T>G	noncoding	Benign
20	63351240	G	A	G63351240A	CHRNA4	NM_000744.6(CHRNA4):c.384-213C>T	noncoding	Benign
20	63351259	T	C	T63351259C	CHRNA4	NM_000744.6(CHRNA4):c.384-232A>G	noncoding	Benign
20	63351340	C	T	C63351340T	CHRNA4	NM_000744.6(CHRNA4):c.384-313G>A	noncoding	Benign
20	63355968	G	A	G63355968A	CHRNA4	NM_000744.6(CHRNA4):c.383+7C>T	coding	Benign
20	63356386	G	A	G63356386A	CHRNA4	NM_000744.7(CHRNA4):c.258C>T:p.Asn86=	coding	Benign/Likely_benign
20	63356578	A	G	A63356578G	CHRNA4	NM_000744.6(CHRNA4):c.229-163T>C	noncoding	Benign
20	63356709	G	A	G63356709A	CHRNA4	NM_000744.6(CHRNA4):c.229-294C>T	noncoding	Benign
20	63359231	G	C	G63359231C	CHRNA4	NM_000744.6(CHRNA4):c.228+317C>G	noncoding	Benign
20	63359522	T	C	T63359522C	CHRNA4	NM_000744.6(CHRNA4):c.228+26A>G	noncoding	Benign
20	63359551	G	A	G63359551A	CHRNA4	NM_000744.7(CHRNA4):c.225C>T:p.Asp75=	coding	Benign/Likely_benign
20	63359587	G	A	G63359587A	CHRNA4	NM_000744.7(CHRNA4):c.189C>T:p.Leu63=	coding	Benign
20	63359650	C	T	C63359650T	CHRNA4	NM_000744.6(CHRNA4):c.126G>A:p.Lys42=	coding	Benign
20	63359789	G	A	G63359789A	CHRNA4	NM_000744.6(CHRNA4):c.77-90C>T	noncoding	Benign
20	63359949	A	C	A63359949C	CHRNA4	NM_000744.6(CHRNA4):c.77-250T>G	noncoding	Benign
20	63360002	C	G	C63360002G	CHRNA4	NM_000744.6(CHRNA4):c.77-303G>C	coding	Benign
20	63360933	A	C	A63360933C	CHRNA4	NM_000744.6(CHRNA4):c.76+157T>G	noncoding	Benign
20	63361072	C	A	C63361072A	CHRNA4	NM_000744.6(CHRNA4):c.76+18G>T	noncoding	Benign
20	63361115	C	T	C63361115T	CHRNA4	NM_000744.7(CHRNA4):c.51G>A:p.Leu17=	coding	Benign
20	63361157	T	C	T63361157C	CHRNA4	NM_000744.7(CHRNA4):c.9A>G:p.Leu3=	coding	Benign/Likely_benign
20	63406640	C	T	C63406640T	KCNQ2	NM_172107.4(KCNQ2):c.*4G>A	noncoding	Benign/Likely_benign
20	63406650	C	A	C63406650A	KCNQ2	NM_172107.4(KCNQ2):c.2613G>T:p.Arg871Ser	coding	Benign/Likely_benign
20	63406692	G	A	G63406692A	KCNQ2	NM_172107.4(KCNQ2):c.2571C>T:p.Thr857=	coding	Benign/Likely_benign
20	63406703	G	A	G63406703A	KCNQ2	NM_172107.4(KCNQ2):c.2560C>T:p.Arg854Cys	coding	Benign/Likely_benign
20	63406707	C	T	C63406707T	KCNQ2	NM_172107.4(KCNQ2):c.2556G>A:p.Pro852=	coding	Benign/Likely_benign
20	63406719	C	T	C63406719T	KCNQ2	NM_172107.4(KCNQ2):c.2544G>A:p.Pro848=	coding	Benign/Likely_benign
20	63406728	G	C	G63406728C	KCNQ2	NM_172107.4(KCNQ2):c.2535C>G:p.Leu845=	coding	Benign
20	63406734	G	A	G63406734A	KCNQ2	NM_172107.4(KCNQ2):c.2529C>T:p.Ser843=	coding	Benign/Likely_benign
20	63406838	G	A	G63406838A	KCNQ2	NM_172107.4(KCNQ2):c.2425C>T:p.Gln809Ter	coding	Pathogenic
20	63406878	G	A	G63406878A	KCNQ2	NM_172107.4(KCNQ2):c.2385C>T:p.His795=	coding	Benign/Likely_benign
20	63406924	T	G	T63406924G	KCNQ2	NM_172107.4(KCNQ2):c.2339A>C:p.Asn780Thr	coding	Benign
20	63406999	T	C	T63406999C	KCNQ2	NM_172107.4(KCNQ2):c.2264A>G:p.Tyr755Cys	coding	Benign/Likely_benign
20	63407010	C	T	C63407010T	KCNQ2	NM_172107.4(KCNQ2):c.2253G>A:p.Ser751=	coding	Benign
20	63407018	C	A	C63407018A	KCNQ2	NM_172107.4(KCNQ2):c.2245G>T:p.Glu749Ter	coding	Pathogenic
20	63407025	A	T	A63407025T	KCNQ2	NM_172107.4(KCNQ2):c.2238T>A:p.Pro746=	coding	Benign
20	63407028	C	T	C63407028T	KCNQ2	NM_172107.4(KCNQ2):c.2235G>A:p.Pro745=	coding	Benign
20	63407116	G	A	G63407116A	KCNQ2	NM_172107.4(KCNQ2):c.2147C>T:p.Thr716Ile	coding	Pathogenic
20	63407157	C	T	C63407157T	KCNQ2	NM_172107.4(KCNQ2):c.2106G>A:p.Ser702=	coding	Benign
20	63407171	G	A	G63407171A	KCNQ2	NM_172107.4(KCNQ2):c.2092C>T:p.Gln698Ter	coding	Pathogenic
20	63407198	T	G	T63407198G	KCNQ2	NM_172107.4(KCNQ2):c.2065A>C:p.Ile689Leu	coding	Benign
20	63407232	C	T	C63407232T	KCNQ2	NM_172107.4(KCNQ2):c.2031G>A:p.Arg677=	coding	Benign/Likely_benign
20	63407307	C	T	C63407307T	KCNQ2	NM_172107.4(KCNQ2):c.1956G>A:p.Pro652=	coding	Benign
20	63407353	A	C	A63407353C	KCNQ2	NM_172107.4(KCNQ2):c.1910T>G:p.Leu637Arg	coding	Pathogenic
20	63407457	G	C	G63407457C	KCNQ2	NM_172107.4(KCNQ2):c.1888-82C>G	noncoding	Benign
20	63407513	G	C	G63407513C	KCNQ2	NM_172107.4(KCNQ2):c.1888-138C>G	noncoding	Benign
20	63407570	G	C	G63407570C	KCNQ2	NM_172107.4(KCNQ2):c.1888-195C>G	noncoding	Benign
20	63408263	A	G	A63408263G	KCNQ2	NM_172107.4(KCNQ2):c.1887+150T>C	noncoding	Benign
20	63408396	C	T	C63408396T	KCNQ2	NM_172107.4(KCNQ2):c.1887+17G>A	noncoding	Benign
20	63408397	G	T	G63408397T	KCNQ2	NM_172107.4(KCNQ2):c.1887+16C>A	noncoding	Benign
20	63408412	C	A	C63408412A	KCNQ2	NM_172107.4(KCNQ2):c.1887+1G>T	noncoding	Pathogenic
20	63408467	C	T	C63408467T	KCNQ2	NM_172107.4(KCNQ2):c.1833G>A:p.Ala611=	coding	Benign/Likely_benign
20	63408484	T	A	T63408484A	KCNQ2	NM_172107.4(KCNQ2):c.1816A>T:p.Lys606Ter	coding	Pathogenic
20	63408517	G	A	G63408517A	KCNQ2	NM_172107.4(KCNQ2):c.1783C>T:p.Arg595Trp	coding	Pathogenic
20	63408524	G	C	G63408524C	KCNQ2	NM_172107.4(KCNQ2):c.1776C>G:p.Ile592Met	coding	Pathogenic
20	63408536	T	A	T63408536A	KCNQ2	NM_172107.4(KCNQ2):c.1764A>T:p.Arg588Ser	coding	Pathogenic
20	63408537	C	G	C63408537G	KCNQ2	NM_172107.4(KCNQ2):c.1764-1G>C	coding	Pathogenic
20	63408538	T	C	T63408538C	KCNQ2	NM_172107.4(KCNQ2):c.1764-2A>G	noncoding	Pathogenic
20	63408542	G	T	G63408542T	KCNQ2	NM_172107.4(KCNQ2):c.1764-6C>A	noncoding	Pathogenic
20	63408669	T	C	T63408669C	KCNQ2	NM_172107.4(KCNQ2):c.1764-133A>G	noncoding	Benign
20	63408819	G	A	G63408819A	KCNQ2	NM_172107.4(KCNQ2):c.1764-283C>T	noncoding	Benign
20	63413433	G	T	G63413433T	KCNQ2	NM_172107.4(KCNQ2):c.1763+17C>A	noncoding	Benign
20	63413471	C	T	C63413471T	KCNQ2	NM_172107.4(KCNQ2):c.1742G>A:p.Arg581Gln	coding	Pathogenic/Likely_pathogenic
20	63413472	G	A	G63413472A	KCNQ2	NM_172107.4(KCNQ2):c.1741C>T:p.Arg581Ter	coding	Pathogenic
20	63413472	G	C	G63413472C	KCNQ2	NM_172107.4(KCNQ2):c.1741C>G:p.Arg581Gly	coding	Pathogenic
20	63413479	C	G	C63413479G	KCNQ2	NM_172107.4(KCNQ2):c.1734G>C:p.Met578Ile	coding	Pathogenic
20	63413494	G	A	G63413494A	KCNQ2	NM_172107.4(KCNQ2):c.1719C>T:p.Ala573=	coding	Benign
20	63413505	G	A	G63413505A	KCNQ2	NM_172107.4(KCNQ2):c.1708C>T:p.Gln570Ter	coding	Pathogenic
20	63413524	G	A	G63413524A	KCNQ2	NM_172107.4(KCNQ2):c.1689C>T:p.Asp563=	coding	Benign/Likely_benign
20	63413524	G	C	G63413524C	KCNQ2	NM_172107.4(KCNQ2):c.1689C>G:p.Asp563Glu	coding	Pathogenic
20	63413525	T	C	T63413525C	KCNQ2	NM_172107.4(KCNQ2):c.1688A>G:p.Asp563Gly	coding	Pathogenic
20	63413526	C	A	C63413526A	KCNQ2	NM_172107.4(KCNQ2):c.1687G>T:p.Asp563Tyr	coding	Pathogenic
20	63413526	C	T	C63413526T	KCNQ2	NM_172107.4(KCNQ2):c.1687G>A:p.Asp563Asn	coding	Pathogenic
20	63413527	G	C	G63413527C	KCNQ2	NM_172107.4(KCNQ2):c.1686C>G:p.Tyr562Ter	coding	Pathogenic
20	63413527	G	T	G63413527T	KCNQ2	NM_172107.4(KCNQ2):c.1686C>A:p.Tyr562Ter	coding	Pathogenic
20	63413531	G	A	G63413531A	KCNQ2	NM_172107.4(KCNQ2):c.1682C>T:p.Pro561Leu	coding	Pathogenic
20	63413535	G	A	G63413535A	KCNQ2	NM_172107.4(KCNQ2):c.1678C>T:p.Arg560Trp	coding	Pathogenic/Likely_pathogenic
20	63413547	T	C	T63413547C	KCNQ2	NM_172107.4(KCNQ2):c.1666A>G:p.Lys556Glu	coding	Pathogenic
20	63413551	C	A	C63413551A	KCNQ2	NM_172107.4(KCNQ2):c.1662G>T:p.Lys554Asn	coding	Pathogenic
20	63413555	C	A	C63413555A	KCNQ2	NM_172107.4(KCNQ2):c.1658G>T:p.Arg553Leu	coding	Pathogenic
20	63413555	C	T	C63413555T	KCNQ2	NM_172107.4(KCNQ2):c.1658G>A:p.Arg553Gln	coding	Pathogenic
20	63413558	T	G	T63413558G	KCNQ2	NM_172107.4(KCNQ2):c.1655A>C:p.Lys552Thr	coding	Pathogenic
20	63413576	A	G	A63413576G	KCNQ2	NM_172107.4(KCNQ2):c.1637T>C:p.Met546Thr	coding	Pathogenic
20	63413577	T	C	T63413577C	KCNQ2	NM_172107.4(KCNQ2):c.1636A>G:p.Met546Val	coding	Pathogenic
20	63413582	C	A	C63413582A	KCNQ2	NM_172107.4(KCNQ2):c.1632-1G>T	coding	Benign
20	63413582	C	T	C63413582T	KCNQ2	NM_172107.4(KCNQ2):c.1632-1G>A	coding	Pathogenic
20	63413599	G	T	G63413599T	KCNQ2	NM_172107.4(KCNQ2):c.1632-18C>A	noncoding	Benign
20	63413947	G	A	G63413947A	KCNQ2	NM_172107.4(KCNQ2):c.1631+141C>T	noncoding	Benign
20	63414087	C	T	C63414087T	KCNQ2	NM_172107.4(KCNQ2):c.1631+1G>A	noncoding	Pathogenic
20	63414098	T	C	T63414098C	KCNQ2	NM_172107.4(KCNQ2):c.1621A>G:p.Arg541Gly	coding	Pathogenic
20	63414110	T	A	T63414110A	KCNQ2	NM_172107.4(KCNQ2):c.1609A>T:p.Lys537Ter	coding	Pathogenic
20	63414179	C	A	C63414179A	KCNQ2	NM_172107.4(KCNQ2):c.1540G>T:p.Gly514Ter	coding	Pathogenic
20	63414180	G	A	G63414180A	KCNQ2	NM_172107.4(KCNQ2):c.1539C>T:p.Pro513=	coding	Benign/Likely_benign
20	63414356	C	T	C63414356T	KCNQ2	NM_172107.4(KCNQ2):c.1526-163G>A	noncoding	Benign
20	63414902	C	T	C63414902T	KCNQ2	NM_172107.4(KCNQ2):c.1525+1G>A	noncoding	Pathogenic
20	63414920	G	C	G63414920C	KCNQ2	NM_172107.4(KCNQ2):c.1508C>G:p.Ser503Ter	coding	Pathogenic
20	63414925	G	C	G63414925C	KCNQ2	NM_172107.4(KCNQ2):c.1503C>G:p.Ala501=	coding	Benign
20	63414927	C	G	C63414927G	KCNQ2	NM_172107.4(KCNQ2):c.1501G>C:p.Ala501Pro	coding	Pathogenic
20	63414970	G	A	G63414970A	KCNQ2	NM_172107.4(KCNQ2):c.1458C>T:p.Phe486=	coding	Benign
20	63414976	C	T	C63414976T	KCNQ2	NM_172107.4(KCNQ2):c.1452G>A:p.Trp484Ter	coding	Pathogenic
20	63414984	T	A	T63414984A	KCNQ2	NM_172107.4(KCNQ2):c.1444A>T:p.Lys482Ter	coding	Pathogenic
20	63415009	G	A	G63415009A	KCNQ2	NM_172107.4(KCNQ2):c.1419C>T:p.Leu473=	coding	Benign/Likely_benign
20	63415017	G	A	G63415017A	KCNQ2	NM_172107.4(KCNQ2):c.1411C>T:p.Gln471Ter	coding	Pathogenic
20	63415021	G	A	G63415021A	KCNQ2	NM_172107.4(KCNQ2):c.1407C>T:p.Ala469=	coding	Benign/Likely_benign
20	63415046	T	G	T63415046G	KCNQ2	NM_172107.4(KCNQ2):c.1382A>C:p.Gln461Pro	coding	Pathogenic
20	63415080	C	T	C63415080T	KCNQ2	NM_172107.4(KCNQ2):c.1348G>A:p.Val450Met	coding	Benign/Likely_benign
20	63415086	G	A	G63415086A	KCNQ2	NM_172107.4(KCNQ2):c.1342C>T:p.Arg448Ter	coding	Pathogenic
20	63415127	C	G	C63415127G	KCNQ2	NM_172107.4(KCNQ2):c.1302-1G>C	coding	Pathogenic
20	63415137	G	A	G63415137A	KCNQ2	NM_172107.4(KCNQ2):c.1302-11C>T	noncoding	Benign
20	63415137	G	C	G63415137C	KCNQ2	NM_172107.4(KCNQ2):c.1302-11C>G	noncoding	Benign
20	63419632	G	A	G63419632A	KCNQ2	NM_172107.4(KCNQ2):c.1288C>T:p.Pro430Ser	coding	Pathogenic
20	63419639	T	C	T63419639C	KCNQ2	NM_172107.4(KCNQ2):c.1281A>G:p.Gly427=	coding	Benign
20	63424064	G	A	G63424064A	KCNQ2	NM_172107.4(KCNQ2):c.1247+113C>T	noncoding	Benign
20	63424176	C	T	C63424176T	KCNQ2	NM_172107.4(KCNQ2):c.1247+1G>A	noncoding	Pathogenic
20	63424386	C	T	C63424386T	KCNQ2	NM_172107.4(KCNQ2):c.1218-180G>A	noncoding	Benign
20	63428069	G	A	G63428069A	KCNQ2	NM_172107.4(KCNQ2):c.1217+298C>T	noncoding	Benign
20	63428152	G	A	G63428152A	KCNQ2	NM_172107.4(KCNQ2):c.1217+215C>T	noncoding	Benign
20	63428365	A	C	A63428365C	KCNQ2	NM_172107.4(KCNQ2):c.1217+2T>G	noncoding	Pathogenic
20	63428380	C	A	C63428380A	KCNQ2	NM_172107.4(KCNQ2):c.1204G>T:p.Gly402Ter	coding	Pathogenic
20	63428381	A	G	A63428381G	KCNQ2	NM_172107.4(KCNQ2):c.1203T>C:p.Ser401=	coding	Pathogenic
20	63428399	C	T	C63428399T	KCNQ2	NM_172107.4(KCNQ2):c.1185G>A:p.Arg395=	coding	Benign
20	63428423	C	T	C63428423T	KCNQ2	NM_172107.4(KCNQ2):c.1161G>A:p.Pro387=	coding	Benign
20	63428437	T	C	T63428437C	KCNQ2	NM_172107.4(KCNQ2):c.1149-2A>G	noncoding	Pathogenic
20	63428455	G	A	G63428455A	KCNQ2	NM_172107.4(KCNQ2):c.1149-20C>T	noncoding	Benign
20	63431223	G	A	G63431223A	KCNQ2	NM_172107.4(KCNQ2):c.1148+117C>T	noncoding	Benign
20	63431338	A	C	A63431338C	KCNQ2	NM_172107.4(KCNQ2):c.1148+2T>G	noncoding	Pathogenic
20	63433740	G	A	G63433740A	KCNQ2	NM_172107.4(KCNQ2):c.1118+69C>T	coding	Benign
20	63433740	G	T	G63433740T	KCNQ2	NM_172107.4(KCNQ2):c.1118+69C>A	coding	Benign
20	63433806	T	C	T63433806C	KCNQ2	NM_172107.4(KCNQ2):c.1118+3A>G	coding	Pathogenic
20	63433807	A	G	A63433807G	KCNQ2	NM_172107.4(KCNQ2):c.1118+2T>C	coding	Pathogenic/Likely_pathogenic
20	63433808	C	T	C63433808T	KCNQ2	NM_172107.4(KCNQ2):c.1118+1G>A	coding	Benign
20	63433834	G	A	G63433834A	KCNQ2	NM_172107.4(KCNQ2):c.1093C>T:p.Arg365Ter	coding	Pathogenic
20	63433841	G	C	G63433841C	KCNQ2	NM_172107.4(KCNQ2):c.1086C>G:p.Tyr362Ter	coding	Pathogenic
20	63433842	T	C	T63433842C	KCNQ2	NM_172107.4(KCNQ2):c.1085A>G:p.Tyr362Cys	coding	Pathogenic
20	63433847	C	T	C63433847T	KCNQ2	NM_172107.4(KCNQ2):c.1080G>A:p.Trp360Ter	coding	Pathogenic
20	63433851	G	T	G63433851T	KCNQ2	NM_172107.4(KCNQ2):c.1076C>A:p.Thr359Lys	coding	Pathogenic
20	63433854	G	A	G63433854A	KCNQ2	NM_172107.4(KCNQ2):c.1073C>T:p.Ser358Phe	coding	Pathogenic
20	63433861	G	C	G63433861C	KCNQ2	NM_172107.4(KCNQ2):c.1066C>G:p.Leu356Val	coding	Pathogenic
20	63433862	G	A	G63433862A	KCNQ2	NM_172107.4(KCNQ2):c.1065C>T:p.Asp355=	coding	Benign
20	63433870	G	C	G63433870C	KCNQ2	NM_172107.4(KCNQ2):c.1057C>G:p.Arg353Gly	coding	Pathogenic
20	63433873	A	G	A63433873G	KCNQ2	NM_172107.4(KCNQ2):c.1054T>C:p.Ser352Pro	coding	Pathogenic
20	63433874	G	A	G63433874A	KCNQ2	NM_172107.4(KCNQ2):c.1053C>T:p.Leu351=	coding	Benign
20	63433876	G	A	G63433876A	KCNQ2	NM_172107.4(KCNQ2):c.1051C>T:p.Leu351Phe	coding	Pathogenic
20	63433881	G	A	G63433881A	KCNQ2	NM_172107.4(KCNQ2):c.1046C>T:p.Thr349Ile	coding	Pathogenic
20	63433886	G	C	G63433886C	KCNQ2	NM_172107.4(KCNQ2):c.1041C>G:p.Tyr347Ter	coding	Pathogenic
20	63433897	A	G	A63433897G	KCNQ2	NM_172107.4(KCNQ2):c.1030T>C:p.Trp344Arg	coding	Pathogenic
20	63433905	T	C	T63433905C	KCNQ2	NM_172107.4(KCNQ2):c.1024-2A>G	noncoding	Pathogenic
20	63434067	C	T	C63434067T	KCNQ2	NM_172107.4(KCNQ2):c.1024-164G>A	noncoding	Benign
20	63434107	G	A	G63434107A	KCNQ2	NM_172107.4(KCNQ2):c.1024-204C>T	noncoding	Benign
20	63438616	T	C	T63438616C	KCNQ2	NM_172107.4(KCNQ2):c.1023+9A>G	noncoding	Benign/Likely_benign
20	63438626	T	C	T63438626C	KCNQ2	NM_172107.4(KCNQ2):c.1022A>G:p.Gln341Arg	coding	Pathogenic
20	63438632	A	C	A63438632C	KCNQ2	NM_172107.4(KCNQ2):c.1016T>G:p.Leu339Arg	coding	Pathogenic
20	63438638	G	C	G63438638C	KCNQ2	NM_172107.4(KCNQ2):c.1010C>G:p.Ala337Gly	coding	Pathogenic
20	63438639	C	T	C63438639T	KCNQ2	NM_172107.4(KCNQ2):c.1009G>A:p.Ala337Thr	coding	Pathogenic
20	63438644	G	A	G63438644A	KCNQ2	NM_172107.4(KCNQ2):c.1004C>T:p.Pro335Leu	coding	Pathogenic/Likely_pathogenic
20	63438645	G	C	G63438645C	KCNQ2	NM_172107.4(KCNQ2):c.1003C>G:p.Pro335Ala	coding	Pathogenic
20	63438650	C	T	C63438650T	KCNQ2	NM_172107.4(KCNQ2):c.998G>A:p.Arg333Gln	coding	Pathogenic/Likely_pathogenic
20	63438651	G	A	G63438651A	KCNQ2	NM_172107.4(KCNQ2):c.997C>T:p.Arg333Trp	coding	Pathogenic
20	63438675	T	C	T63438675C	KCNQ2	NM_172107.4(KCNQ2):c.973A>G:p.Arg325Gly	coding	Pathogenic
20	63438675	T	G	T63438675G	KCNQ2	NM_172107.4(KCNQ2):c.973A>C:p.Arg325=	coding	Pathogenic
20	63438681	G	A	G63438681A	KCNQ2	NM_172107.4(KCNQ2):c.967C>T:p.Gln323Ter	coding	Pathogenic
20	63438705	C	G	C63438705G	KCNQ2	NM_172107.4(KCNQ2):c.943G>C:p.Gly315Arg	coding	Pathogenic
20	63438721	C	G	C63438721G	KCNQ2	NM_172107.4(KCNQ2):c.928-1G>C	coding	Pathogenic
20	63438807	C	G	C63438807G	KCNQ2	NM_172107.4(KCNQ2):c.928-87G>C	noncoding	Benign
20	63438948	C	T	C63438948T	KCNQ2	NM_172107.4(KCNQ2):c.928-228G>A	noncoding	Benign
20	63439597	C	T	C63439597T	KCNQ2	NM_172107.4(KCNQ2):c.927+1G>A	noncoding	Pathogenic
20	63439599	G	A	G63439599A	KCNQ2	NM_172107.4(KCNQ2):c.926C>T:p.Ala309Val	coding	Pathogenic
20	63439608	G	A	G63439608A	KCNQ2	NM_172107.4(KCNQ2):c.917C>T:p.Ala306Val	coding	Pathogenic
20	63439609	C	G	C63439609G	KCNQ2	NM_172107.4(KCNQ2):c.916G>C:p.Ala306Pro	coding	Pathogenic
20	63439609	C	T	C63439609T	KCNQ2	NM_172107.4(KCNQ2):c.916G>A:p.Ala306Thr	coding	Pathogenic
20	63439610	G	C	G63439610C	KCNQ2	NM_172107.4(KCNQ2):c.915C>G:p.Phe305Leu	coding	Pathogenic
20	63439610	G	T	G63439610T	KCNQ2	NM_172107.4(KCNQ2):c.915C>A:p.Phe305Leu	coding	Pathogenic/Likely_pathogenic
20	63439613	G	A	G63439613A	KCNQ2	NM_172107.4(KCNQ2):c.912C>T:p.Phe304=	coding	Benign
20	63439614	A	G	A63439614G	KCNQ2	NM_172107.4(KCNQ2):c.911T>C:p.Phe304Ser	coding	Pathogenic
20	63439623	C	T	C63439623T	KCNQ2	NM_172107.4(KCNQ2):c.902G>A:p.Gly301Asp	coding	Pathogenic
20	63439637	G	A	G63439637A	KCNQ2	NM_172107.4(KCNQ2):c.888C>T:p.Thr296=	coding	Benign
20	63439639	T	G	T63439639G	KCNQ2	NM_172107.4(KCNQ2):c.886A>C:p.Thr296Pro	coding	Pathogenic
20	63439644	G	A	G63439644A	KCNQ2	NM_172107.4(KCNQ2):c.881C>T:p.Ala294Val	coding	Pathogenic
20	63439644	G	C	G63439644C	KCNQ2	NM_172107.4(KCNQ2):c.881C>G:p.Ala294Gly	coding	Pathogenic
20	63439656	C	A	C63439656A	KCNQ2	NM_172107.4(KCNQ2):c.869G>T:p.Gly290Val	coding	Pathogenic
20	63439656	C	T	C63439656T	KCNQ2	NM_172107.4(KCNQ2):c.869G>A:p.Gly290Asp	coding	Pathogenic
20	63439657	C	T	C63439657T	KCNQ2	NM_172107.4(KCNQ2):c.868G>A:p.Gly290Ser	coding	Pathogenic
20	63439665	G	T	G63439665T	KCNQ2	NM_172107.4(KCNQ2):c.860C>A:p.Thr287Asn	coding	Pathogenic
20	63439671	G	T	G63439671T	KCNQ2	NM_172107.4(KCNQ2):c.854C>A:p.Pro285His	coding	Pathogenic
20	63439674	T	C	T63439674C	KCNQ2	NM_172107.4(KCNQ2):c.851A>G:p.Tyr284Cys	coding	Pathogenic
20	63439675	A	C	A63439675C	KCNQ2	NM_172107.4(KCNQ2):c.850T>G:p.Tyr284Asp	coding	Pathogenic
20	63439677	T	C	T63439677C	KCNQ2	NM_172107.4(KCNQ2):c.848A>G:p.Lys283Arg	coding	Pathogenic
20	63439680	T	A	T63439680A	KCNQ2	NM_172107.4(KCNQ2):c.845A>T:p.Asp282Val	coding	Pathogenic
20	63439681	C	T	C63439681T	KCNQ2	NM_172107.4(KCNQ2):c.844G>A:p.Asp282Asn	coding	Pathogenic
20	63439684	C	A	C63439684A	KCNQ2	NM_172107.4(KCNQ2):c.841G>T:p.Gly281Trp	coding	Pathogenic
20	63439687	A	G	A63439687G	KCNQ2	NM_172107.4(KCNQ2):c.838T>C:p.Tyr280His	coding	Pathogenic
20	63439690	C	A	C63439690A	KCNQ2	NM_172107.4(KCNQ2):c.835G>T:p.Gly279Cys	coding	Pathogenic
20	63439698	G	A	G63439698A	KCNQ2	NM_172107.4(KCNQ2):c.827C>T:p.Thr276Ile	coding	Pathogenic
20	63439698	G	T	G63439698T	KCNQ2	NM_172107.4(KCNQ2):c.827C>A:p.Thr276Asn	coding	Pathogenic
20	63439704	G	A	G63439704A	KCNQ2	NM_172107.4(KCNQ2):c.821C>T:p.Thr274Met	coding	Pathogenic
20	63442396	C	A	C63442396A	KCNQ2	NM_172107.4(KCNQ2):c.816+10G>T	noncoding	Benign
20	63442410	C	A	C63442410A	KCNQ2	NM_172107.4(KCNQ2):c.812G>T:p.Gly271Val	coding	Pathogenic
20	63442413	C	T	C63442413T	KCNQ2	NM_172107.4(KCNQ2):c.809G>A:p.Trp270Ter	coding	Pathogenic
20	63442415	C	T	C63442415T	KCNQ2	NM_172107.4(KCNQ2):c.807G>A:p.Trp269Ter	coding	Pathogenic
20	63442418	G	A	G63442418A	KCNQ2	NM_172107.4(KCNQ2):c.804C>T:p.Leu268=	coding	Benign
20	63442419	A	G	A63442419G	KCNQ2	NM_172107.4(KCNQ2):c.803T>C:p.Leu268Pro	coding	Pathogenic
20	63442424	A	T	A63442424T	KCNQ2	NM_172107.4(KCNQ2):c.798T>A:p.Asp266Glu	coding	Pathogenic
20	63442428	G	A	G63442428A	KCNQ2	NM_172107.4(KCNQ2):c.794C>T:p.Ala265Val	coding	Pathogenic/Likely_pathogenic
20	63442429	C	G	C63442429G	KCNQ2	NM_172107.4(KCNQ2):c.793G>C:p.Ala265Pro	coding	Pathogenic
20	63442429	C	T	C63442429T	KCNQ2	NM_172107.4(KCNQ2):c.793G>A:p.Ala265Thr	coding	Pathogenic/Likely_pathogenic
20	63442434	G	A	G63442434A	KCNQ2	NM_172107.4(KCNQ2):c.788C>T:p.Thr263Ile	coding	Pathogenic
20	63442447	C	A	C63442447A	KCNQ2	NM_172107.4(KCNQ2):c.775G>T:p.Asp259Tyr	coding	Pathogenic
20	63442449	T	C	T63442449C	KCNQ2	NM_172107.4(KCNQ2):c.773A>G:p.Asn258Ser	coding	Pathogenic
20	63442453	C	A	C63442453A	KCNQ2	NM_172107.4(KCNQ2):c.769G>T:p.Glu257Ter	coding	Pathogenic
20	63442465	C	T	C63442465T	KCNQ2	NM_172107.4(KCNQ2):c.757G>A:p.Ala253Thr	coding	Pathogenic
20	63442468	A	G	A63442468G	KCNQ2	NM_172107.4(KCNQ2):c.754T>C:p.Leu252=	coding	Benign/Likely_benign
20	63442474	C	A	C63442474A	KCNQ2	NM_172107.4(KCNQ2):c.748G>T:p.Val250Leu	coding	Pathogenic
20	63442482	G	A	G63442482A	KCNQ2	NM_172107.4(KCNQ2):c.740C>T:p.Ser247Leu	coding	Pathogenic/Likely_pathogenic
20	63442482	G	T	G63442482T	KCNQ2	NM_172107.4(KCNQ2):c.740C>A:p.Ser247Ter	coding	Pathogenic
20	63442495	G	A	G63442495A	KCNQ2	NM_172107.4(KCNQ2):c.727C>T:p.Leu243Phe	coding	Pathogenic
20	63442507	C	G	C63442507G	KCNQ2	NM_172107.4(KCNQ2):c.715G>C:p.Gly239Arg	coding	Pathogenic
20	63442508	G	A	G63442508A	KCNQ2	NM_172107.4(KCNQ2):c.714C>T:p.Ile238=	coding	Benign
20	63442512	T	C	T63442512C	KCNQ2	NM_172107.4(KCNQ2):c.710A>G:p.Tyr237Cys	coding	Pathogenic
20	63442522	T	G	T63442522G	KCNQ2	NM_172107.4(KCNQ2):c.700A>C:p.Thr234Pro	coding	Pathogenic
20	63442529	C	A	C63442529A	KCNQ2	NM_172107.4(KCNQ2):c.693G>T:p.Glu231Asp	coding	Pathogenic/Likely_pathogenic
20	63442529	C	G	C63442529G	KCNQ2	NM_172107.4(KCNQ2):c.693G>C:p.Glu231Asp	coding	Pathogenic
20	63442530	T	C	T63442530C	KCNQ2	NM_172107.4(KCNQ2):c.692A>G:p.Glu231Gly	coding	Pathogenic
20	63442531	C	G	C63442531G	KCNQ2	NM_172107.4(KCNQ2):c.691G>C:p.Glu231Gln	coding	Pathogenic
20	63444682	A	G	A63444682G	KCNQ2	NM_172107.4(KCNQ2):c.667T>C:p.Ser223Pro	coding	Pathogenic
20	63444695	C	T	C63444695T	KCNQ2	NM_172107.4(KCNQ2):c.654G>A:p.Trp218Ter	coding	Pathogenic
20	63444699	G	T	G63444699T	KCNQ2	NM_172107.4(KCNQ2):c.650C>A:p.Thr217Asn	coding	Pathogenic
20	63444700	T	C	T63444700C	KCNQ2	NM_172107.4(KCNQ2):c.649A>G:p.Thr217Ala	coding	Pathogenic
20	63444706	C	T	C63444706T	KCNQ2	NM_172107.4(KCNQ2):c.643G>A:p.Gly215Arg	coding	Pathogenic
20	63444709	G	A	G63444709A	KCNQ2	NM_172107.4(KCNQ2):c.640C>T:p.Arg214Trp	coding	Pathogenic/Likely_pathogenic
20	63444711	C	T	C63444711T	KCNQ2	NM_172107.4(KCNQ2):c.638G>A:p.Arg213Gln	coding	Pathogenic/Likely_pathogenic
20	63444712	G	A	G63444712A	KCNQ2	NM_172107.4(KCNQ2):c.637C>T:p.Arg213Trp	coding	Pathogenic/Likely_pathogenic
20	63444713	G	T	G63444713T	KCNQ2	NM_172107.4(KCNQ2):c.636C>A:p.Asp212Glu	coding	Pathogenic
20	63444714	T	C	T63444714C	KCNQ2	NM_172107.4(KCNQ2):c.635A>G:p.Asp212Gly	coding	Pathogenic
20	63444714	T	G	T63444714G	KCNQ2	NM_172107.4(KCNQ2):c.635A>C:p.Asp212Ala	coding	Pathogenic
20	63444720	C	G	C63444720G	KCNQ2	NM_172107.4(KCNQ2):c.629G>C:p.Arg210Pro	coding	Pathogenic
20	63444720	C	T	C63444720T	KCNQ2	NM_172107.4(KCNQ2):c.629G>A:p.Arg210His	coding	Pathogenic
20	63444721	G	A	G63444721A	KCNQ2	NM_172107.4(KCNQ2):c.628C>T:p.Arg210Cys	coding	Pathogenic
20	63444723	A	G	A63444723G	KCNQ2	NM_172107.4(KCNQ2):c.626T>C:p.Ile209Thr	coding	Pathogenic
20	63444729	C	T	C63444729T	KCNQ2	NM_172107.4(KCNQ2):c.620G>A:p.Arg207Gln	coding	Pathogenic/Likely_pathogenic
20	63444730	G	A	G63444730A	KCNQ2	NM_172107.4(KCNQ2):c.619C>T:p.Arg207Trp	coding	Pathogenic
20	63444736	T	C	T63444736C	KCNQ2	NM_172107.4(KCNQ2):c.613A>G:p.Ile205Val	coding	Pathogenic
20	63444737	C	G	C63444737G	KCNQ2	NM_172107.4(KCNQ2):c.612G>C:p.Gln204His	coding	Pathogenic
20	63444738	T	C	T63444738C	KCNQ2	NM_172107.4(KCNQ2):c.611A>G:p.Gln204Arg	coding	Pathogenic
20	63444741	A	G	A63444741G	KCNQ2	NM_172107.4(KCNQ2):c.608T>C:p.Leu203Pro	coding	Pathogenic
20	63444747	C	T	C63444747T	KCNQ2	NM_172107.4(KCNQ2):c.602G>A:p.Arg201His	coding	Pathogenic
20	63444756	C	T	C63444756T	KCNQ2	NM_172107.4(KCNQ2):c.593G>A:p.Arg198Gln	coding	Pathogenic
20	63444762	G	A	G63444762A	KCNQ2	NM_172107.4(KCNQ2):c.587C>T:p.Ala196Val	coding	Pathogenic
20	63444766	A	G	A63444766G	KCNQ2	NM_172107.4(KCNQ2):c.583T>C:p.Ser195Pro	coding	Pathogenic/Likely_pathogenic
20	63444771	G	T	G63444771T	KCNQ2	NM_172107.4(KCNQ2):c.578C>A:p.Ala193Asp	coding	Pathogenic
20	63444779	G	A	G63444779A	KCNQ2	NM_172107.4(KCNQ2):c.570C>T:p.Asn190=	coding	Benign/Likely_benign
20	63444783	C	A	C63444783A	KCNQ2	NM_172107.4(KCNQ2):c.566G>T:p.Gly189Val	coding	Pathogenic
20	63444826	C	G	C63444826G	KCNQ2	NM_172107.4(KCNQ2):c.523G>C:p.Val175Leu	coding	Pathogenic
20	63444843	C	T	C63444843T	KCNQ2	NM_172107.4(KCNQ2):c.515-9G>A	noncoding	Benign/Likely_benign
20	63444910	G	A	G63444910A	KCNQ2	NM_172107.4(KCNQ2):c.515-76C>T	noncoding	Benign
20	63445276	C	T	C63445276T	KCNQ2	NM_172107.4(KCNQ2):c.476G>A:p.Gly159Glu	coding	Pathogenic
20	63445277	C	T	C63445277T	KCNQ2	NM_172107.4(KCNQ2):c.475G>A:p.Gly159Arg	coding	Pathogenic
20	63445281	C	T	C63445281T	KCNQ2	NM_172107.4(KCNQ2):c.471G>A:p.Trp157Ter	coding	Pathogenic
20	63445292	A	C	A63445292C	KCNQ2	NM_172107.4(KCNQ2):c.460T>G:p.Tyr154Asp	coding	Pathogenic
20	63445321	C	T	C63445321T	KCNQ2	NM_172107.4(KCNQ2):c.431G>A:p.Arg144Gln	coding	Pathogenic/Likely_pathogenic
20	63445322	G	A	G63445322A	KCNQ2	NM_172107.4(KCNQ2):c.430C>T:p.Arg144Trp	coding	Pathogenic/Likely_pathogenic
20	63445364	C	T	C63445364T	KCNQ2	NM_172107.4(KCNQ2):c.388G>A:p.Glu130Lys	coding	Pathogenic
20	63445390	C	A	C63445390A	KCNQ2	NM_172107.4(KCNQ2):c.388-26G>T	noncoding	Benign
20	63445635	T	C	T63445635C	KCNQ2	NM_172107.4(KCNQ2):c.388-271A>G	noncoding	Benign
20	63445649	A	C	A63445649C	KCNQ2	NM_172107.4(KCNQ2):c.388-285T>G	noncoding	Benign
20	63445662	C	G	C63445662G	KCNQ2	NM_172107.4(KCNQ2):c.388-298G>C	noncoding	Benign
20	63445667	C	G	C63445667G	KCNQ2	NM_172107.4(KCNQ2):c.388-303G>C	noncoding	Benign
20	63445689	T	A	T63445689A	KCNQ2	NM_172107.4(KCNQ2):c.388-325A>T	noncoding	Benign
20	63446746	C	A	C63446746A	KCNQ2	NM_172107.4(KCNQ2):c.387+1G>T	noncoding	Pathogenic
20	63446769	G	A	G63446769A	KCNQ2	NM_172107.4(KCNQ2):c.365C>T:p.Ser122Leu	coding	Pathogenic/Likely_pathogenic
20	63446778	T	C	T63446778C	KCNQ2	NM_172107.4(KCNQ2):c.356A>G:p.Glu119Gly	coding	Pathogenic
20	63446793	G	A	G63446793A	KCNQ2	NM_172107.4(KCNQ2):c.341C>T:p.Thr114Ile	coding	Pathogenic
20	63446794	T	C	T63446794C	KCNQ2	NM_172107.4(KCNQ2):c.340A>G:p.Thr114Ala	coding	Pathogenic
20	63446815	G	A	G63446815A	KCNQ2	NM_172107.4(KCNQ2):c.319C>T:p.Leu107Phe	coding	Pathogenic
20	63446831	G	C	G63446831C	KCNQ2	NM_172107.4(KCNQ2):c.303C>G:p.Leu101=	coding	Benign/Likely_benign
20	63446839	T	C	T63446839C	KCNQ2	NM_172107.4(KCNQ2):c.297-2A>G	noncoding	Pathogenic
20	63446847	G	C	G63446847C	KCNQ2	NM_172107.4(KCNQ2):c.297-10C>G	noncoding	Benign/Likely_benign
20	63446855	G	A	G63446855A	KCNQ2	NM_172107.4(KCNQ2):c.297-18C>T	noncoding	Benign
20	63447134	T	C	T63447134C	KCNQ2	NM_172107.4(KCNQ2):c.297-297A>G	noncoding	Benign
20	63472167	C	T	C63472167T	KCNQ2	NM_172107.4(KCNQ2):c.296+1G>A	noncoding	Pathogenic
20	63472170	G	C	G63472170C	KCNQ2	NM_172107.4(KCNQ2):c.294C>G:p.Tyr98Ter	coding	Pathogenic
20	63472178	G	T	G63472178T	KCNQ2	NM_172107.4(KCNQ2):c.286C>A:p.His96Asn	coding	Pathogenic
20	63472191	C	T	C63472191T	KCNQ2	NM_172107.4(KCNQ2):c.273G>A:p.Trp91Ter	coding	Pathogenic
20	63472232	G	A	G63472232A	KCNQ2	NM_172107.4(KCNQ2):c.232C>T:p.Gln78Ter	coding	Pathogenic
20	63472242	G	C	G63472242C	KCNQ2	NM_172107.4(KCNQ2):c.222C>G:p.Tyr74Ter	coding	Pathogenic
20	63472383	C	T	C63472383T	KCNQ2	NM_172107.4(KCNQ2):c.81G>A:p.Leu27=	coding	Benign/Likely_benign
20	63472431	G	T	G63472431T	KCNQ2	NM_172107.4(KCNQ2):c.33C>A:p.Tyr11Ter	coding	Pathogenic
20	63472462	A	G	A63472462G	KCNQ2	NM_172107.4(KCNQ2):c.2T>C:p.Met1Thr	coding	Pathogenic
20	63472462	A	T	A63472462T	KCNQ2	NM_172107.4(KCNQ2):c.2T>A:p.Met1Lys	coding	Pathogenic/Likely_pathogenic
20	63472463	T	C	T63472463C	KCNQ2	NM_172107.4(KCNQ2):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
20	63472474	G	A	G63472474A	KCNQ2	NM_172107.4(KCNQ2):c.-11C>T	noncoding	Benign
20	63472509	G	C	G63472509C	KCNQ2	NM_172107.4(KCNQ2):c.-46C>G	noncoding	Benign
20	63488355	G	A	G63488355A	EEF1A2	NM_001958.4(EEF1A2):c.1335C>T:p.Ser445=	coding	Benign
20	63488364	C	T	C63488364T	EEF1A2	NM_001958.4(EEF1A2):c.1326G>A:p.Glu442=	coding	Benign
20	63488370	G	A	G63488370A	EEF1A2	NM_001958.4(EEF1A2):c.1320C>T:p.Asn440=	coding	Benign/Likely_benign
20	63488394	C	T	C63488394T	EEF1A2	NM_001958.4(EEF1A2):c.1296G>A:p.Thr432=	coding	Benign/Likely_benign
20	63488423	G	A	G63488423A	EEF1A2	NM_001958.4(EEF1A2):c.1267C>T:p.Arg423Cys	coding	Pathogenic/Likely_pathogenic
20	63488424	G	T	G63488424T	EEF1A2	NM_001958.4(EEF1A2):c.1266C>A:p.Gly422=	coding	Benign/Likely_benign
20	63488440	G	A	G63488440A	EEF1A2	NM_001958.4(EEF1A2):c.1265-15C>T	noncoding	Benign
20	63488522	T	C	T63488522C	EEF1A2	NM_001958.4(EEF1A2):c.1265-97A>G	noncoding	Benign
20	63488919	G	A	G63488919A	EEF1A2	NM_001958.4(EEF1A2):c.1263C>T:p.Leu421=	coding	Benign
20	63489000	C	A	C63489000A	EEF1A2	NM_001958.4(EEF1A2):c.1182G>T:p.Leu394=	coding	Benign/Likely_benign
20	63489160	C	T	C63489160T	EEF1A2	NM_001958.4(EEF1A2):c.1030-8G>A	noncoding	Benign
20	63489162	G	T	G63489162T	EEF1A2	NM_001958.4(EEF1A2):c.1030-10C>A	noncoding	Benign
20	63490467	G	A	G63490467A	EEF1A2	NM_001958.4(EEF1A2):c.1029+12C>T	noncoding	Benign
20	63490858	G	T	G63490858T	EEF1A2	NM_001958.4(EEF1A2):c.773-123C>A	noncoding	Benign
20	63490877	A	G	A63490877G	EEF1A2	NM_001958.4(EEF1A2):c.773-142T>C	noncoding	Benign
20	63493106	G	T	G63493106T	EEF1A2	NM_001958.4(EEF1A2):c.772+31C>A	noncoding	Benign
20	63493155	C	G	C63493155G	EEF1A2	NM_001958.4(EEF1A2):c.754G>C:p.Asp252His	coding	Pathogenic
20	63493237	G	A	G63493237A	EEF1A2	NM_001958.4(EEF1A2):c.672C>T:p.Ser224=	coding	Benign/Likely_benign
20	63493321	G	A	G63493321A	EEF1A2	NM_001958.4(EEF1A2):c.622-34C>T	noncoding	Benign
20	63494537	G	A	G63494537A	EEF1A2	NM_001958.4(EEF1A2):c.621+268C>T	noncoding	Benign
20	63494646	G	A	G63494646A	EEF1A2	NM_001958.4(EEF1A2):c.621+159C>T	noncoding	Benign
20	63494832	A	G	A63494832G	EEF1A2	NM_001958.4(EEF1A2):c.594T>C:p.Gly198=	coding	Benign
20	63494865	G	A	G63494865A	EEF1A2	NM_001958.4(EEF1A2):c.561C>T:p.Thr187=	coding	Benign/Likely_benign
20	63494900	C	T	C63494900T	EEF1A2	NM_001958.4(EEF1A2):c.526G>A:p.Ala176Thr	coding	Benign/Likely_benign
20	63494946	C	T	C63494946T	EEF1A2	NM_001958.4(EEF1A2):c.480G>A:p.Pro160=	coding	Benign
20	63495051	C	T	C63495051T	EEF1A2	NM_001958.4(EEF1A2):c.375G>A:p.Ala125=	coding	Benign
20	63495056	C	T	C63495056T	EEF1A2	NM_001958.4(EEF1A2):c.370G>A:p.Glu124Lys	coding	Pathogenic/Likely_pathogenic
20	63495062	C	T	C63495062T	EEF1A2	NM_001958.4(EEF1A2):c.364G>A:p.Glu122Lys	coding	Pathogenic/Likely_pathogenic
20	63495392	G	A	G63495392A	EEF1A2	NM_001958.4(EEF1A2):c.325-291C>T	noncoding	Benign
20	63495768	T	C	T63495768C	EEF1A2	NM_001958.4(EEF1A2):c.324+88A>G	noncoding	Benign
20	63495901	G	A	G63495901A	EEF1A2	NM_001958.4(EEF1A2):c.279C>T:p.Pro93=	coding	Benign/Likely_benign
20	63495909	C	T	C63495909T	EEF1A2	NM_001958.4(EEF1A2):c.271G>A:p.Asp91Asn	coding	Pathogenic/Likely_pathogenic
20	63495943	C	T	C63495943T	EEF1A2	NM_001958.4(EEF1A2):c.237G>A:p.Lys79=	coding	Benign
20	63495972	C	T	C63495972T	EEF1A2	NM_001958.4(EEF1A2):c.208G>A:p.Gly70Ser	coding	Pathogenic
20	63495973	G	A	G63495973A	EEF1A2	NM_001958.4(EEF1A2):c.207C>T:p.Arg69=	coding	Benign
20	63496168	G	A	G63496168A	EEF1A2	NM_001958.4(EEF1A2):c.145-133C>T	noncoding	Benign
20	63496265	C	T	C63496265T	EEF1A2	NM_001958.4(EEF1A2):c.145-230G>A	noncoding	Benign
20	63497382	T	C	T63497382C	EEF1A2	NM_001958.4(EEF1A2):c.144+238A>G	noncoding	Benign
20	63497710	G	C	G63497710C	EEF1A2	NM_001958.4(EEF1A2):c.54C>G:p.Ser18=	coding	Benign/Likely_benign
20	63497788	C	T	C63497788T	EEF1A2	NM_001958.4(EEF1A2):c.-25G>A	noncoding	Benign
20	63499050	G	T	G63499050T	EEF1A2	NM_001958.4(EEF1A2):c.-72+8C>A	noncoding	Benign
20	63534295	G	T	G63534295T	PTK6	NM_005975.4(PTK6):c.373C>A:p.Arg125=	coding	Benign
20	63543395	G	A	G63543395A	SRMS	NM_080823.3(SRMS):c.564C>T:p.Pro188=	coding	Benign
20	63559278	G	A	G63559278A	HELZ2	NM_001037335.2(HELZ2):c.7918C>T:p.Arg2640Cys	coding	Benign
20	63562552	G	A	G63562552A	HELZ2	NM_001037335.2(HELZ2):c.6270C>T:p.Thr2090=	coding	Benign
20	63563175	G	A	G63563175A	HELZ2	NM_001037335.2(HELZ2):c.5647C>T:p.Leu1883=	coding	Benign
20	63565367	G	A	G63565367A	HELZ2	NM_001037335.2(HELZ2):c.3455C>T:p.Ser1152Leu	coding	Benign
20	63572304	G	A	G63572304A	HELZ2	NM_001037335.2(HELZ2):c.82C>T:p.Arg28Cys	coding	Benign
20	63572368	G	A	G63572368A	HELZ2	NM_001037335.2(HELZ2):c.18C>T:p.Ala6=	coding	Benign
20	63659506	T	C	T63659506C	RTEL1	NM_032957.4(RTEL1):c.102+2T>C	noncoding	Pathogenic
20	63661292	G	A	G63661292A	RTEL1	NM_001283009.1(RTEL1):c.103-6G>A	noncoding	Benign
20	63661503	C	T	C63661503T	RTEL1	NM_001283009.1(RTEL1):c.301+7C>T	noncoding	Benign
20	63661909	C	T	C63661909T	RTEL1	NM_001283009.2(RTEL1):c.361C>T:p.Gln121Ter	coding	Pathogenic
20	63661920	C	T	C63661920T	RTEL1	NM_001283009.2(RTEL1):c.372C>T:p.Asn124=	coding	Benign
20	63662625	C	T	C63662625T	RTEL1	NM_001283009.2(RTEL1):c.475C>T:p.Gln159Ter	coding	Pathogenic
20	63662886	G	T	G63662886T	RTEL1	NM_032957.4(RTEL1):c.607G>T:p.Glu203Ter	coding	Pathogenic
20	63672618	C	T	C63672618T	RTEL1	NM_001283009.2(RTEL1):c.762C>T:p.Asn254=	coding	Benign
20	63673921	G	A	G63673921A	RTEL1	NM_032957.4(RTEL1):c.838-19G>A	noncoding	Benign
20	63673960	G	A	G63673960A	RTEL1	NM_001283009.1(RTEL1):c.786G>A:p.Ser262=	coding	Benign
20	63674053	T	C	T63674053C	RTEL1	NM_001283009.1(RTEL1):c.879T>C:p.Gly293=	coding	Benign
20	63678161	G	A	G63678161A	RTEL1	NM_001283009.1(RTEL1):c.936G>A:p.Leu312=	coding	Benign
20	63678201	C	T	C63678201T	RTEL1	NM_032957.4(RTEL1):c.1030+18C>T	noncoding	Benign
20	63678258	C	T	C63678258T	RTEL1	NM_001283009.2(RTEL1):c.959-10C>T	noncoding	Benign
20	63678287	G	A	G63678287A	RTEL1	NM_001283009.1(RTEL1):c.978G>A:p.Glu326=	coding	Benign
20	63678326	C	T	C63678326T	RTEL1	NM_001283009.1(RTEL1):c.1017C>T:p.Ser339=	coding	Benign
20	63678327	G	A	G63678327A	RTEL1	NM_001283009.2(RTEL1):c.1018G>A:p.Gly340Ser	coding	Benign
20	63679947	G	A	G63679947A	RTEL1	NM_032957.4(RTEL1):c.1207+1G>A	coding	Pathogenic
20	63685591	C	T	C63685591T	RTEL1	NM_032957.4(RTEL1):c.1332C>T:p.Ser444=	coding	Benign/Likely_benign
20	63687765	G	T	G63687765T	RTEL1	NM_032957.4(RTEL1):c.1548G>T:p.Met516Ile	coding	Pathogenic/Likely_pathogenic
20	63687927	C	G	C63687927G	RTEL1	NM_001283009.2(RTEL1):c.1482-10C>G	noncoding	Benign
20	63687931	G	A	G63687931A	RTEL1	NM_001283009.1(RTEL1):c.1482-6G>A	noncoding	Benign
20	63687936	G	A	G63687936A	RTEL1	NM_016434.3(RTEL1):c.1482-1G>A	noncoding	Pathogenic/Likely_pathogenic
20	63688001	G	C	G63688001C	RTEL1	NM_016434.3(RTEL1):c.1546G>C:p.Val516Leu	coding	Pathogenic
20	63688003	C	T	C63688003T	RTEL1	NM_001283009.1(RTEL1):c.1548C>T:p.Val516=	coding	Benign
20	63688130	C	T	C63688130T	RTEL1	NM_032957.4(RTEL1):c.1668-9C>T	noncoding	Benign
20	63688148	G	A	G63688148A	RTEL1	NM_032957.4(RTEL1):c.1677G>A:p.Glu559=	coding	Benign/Likely_benign
20	63688149	G	T	G63688149T	RTEL1	NM_001283009.2(RTEL1):c.1606G>T:p.Glu536Ter	coding	Pathogenic
20	63688161	T	G	T63688161G	RTEL1	NM_016434.3(RTEL1):c.1618T>G:p.Ser540Ala	coding	Pathogenic
20	63688532	G	A	G63688532A	RTEL1	NM_001283009.1(RTEL1):c.1727G>A:p.Arg576His	coding	Benign
20	63688566	G	A	G63688566A	RTEL1	NM_032957.4(RTEL1):c.1833G>A:p.Pro611=	coding	Benign
20	63688578	G	T	G63688578T	RTEL1	NM_016434.3(RTEL1):c.1773G>T:p.Glu591Asp	coding	Pathogenic
20	63689084	C	T	C63689084T	RTEL1	NM_001283009.1(RTEL1):c.1830C>T:p.Ala610=	coding	Benign
20	63689115	G	A	G63689115A	RTEL1	NM_016434.3(RTEL1):c.1861G>A:p.Ala621Thr	coding	Pathogenic
20	63689576	C	T	C63689576T	RTEL1	NM_001283009.1(RTEL1):c.1953C>T:p.Arg651=	coding	Benign
20	63689615	T	C	T63689615C	RTEL1	NM_032957.4(RTEL1):c.2064T>C:p.Asp688=	coding	Benign
20	63689628	C	T	C63689628T	RTEL1	NM_016434.3(RTEL1):c.2005C>T:p.Gln669Ter	coding	Pathogenic
20	63689762	C	T	C63689762T	RTEL1	NM_001283009.2(RTEL1):c.2038C>T:p.Gln680Ter	coding	Pathogenic
20	63689775	G	A	G63689775A	RTEL1	NM_001283009.1(RTEL1):c.2051G>A:p.Arg684Gln	coding	Benign
20	63689813	C	T	C63689813T	RTEL1	NM_001283009.2(RTEL1):c.2089C>T:p.Arg697Ter	coding	Pathogenic
20	63689821	C	G	C63689821G	RTEL1	NM_016434.3(RTEL1):c.2097C>G:p.Ile699Met	coding	Pathogenic
20	63689836	C	T	C63689836T	RTEL1	NM_016434.3(RTEL1):c.2112C>T:p.Asp704=	coding	Benign
20	63690091	G	A	G63690091A	RTEL1	NM_001283009.2(RTEL1):c.2146G>A:p.Ala716Thr	coding	Benign
20	63690178	G	A	G63690178A	RTEL1	NM_016434.3(RTEL1):c.2233G>A:p.Val745Met	coding	Pathogenic
20	63690302	G	A	G63690302A	RTEL1	NM_032957.4(RTEL1):c.2346G>A:p.Ala782=	coding	Benign
20	63690377	C	T	C63690377T	RTEL1	NM_001283009.2(RTEL1):c.2349C>T:p.Phe783=	coding	Benign
20	63690442	G	C	G63690442C	RTEL1	NM_016434.3(RTEL1):c.2413+1G>C	coding	Pathogenic/Likely_pathogenic
20	63690799	C	T	C63690799T	RTEL1	NM_001283009.1(RTEL1):c.2414-6C>T	noncoding	Benign
20	63690819	G	A	G63690819A	RTEL1	NM_001283009.2(RTEL1):c.2428G>A:p.Gly810Arg	coding	Benign
20	63690835	G	T	G63690835T	RTEL1	NM_001283009.1(RTEL1):c.2444G>T:p.Ser815Ile	coding	Benign/Likely_benign
20	63690852	G	T	G63690852T	RTEL1	NM_001283009.2(RTEL1):c.2461G>T:p.Glu821Ter	coding	Pathogenic
20	63690876	C	T	C63690876T	RTEL1	NM_001283009.2(RTEL1):c.2485C>T:p.Gln829Ter	coding	Pathogenic
20	63690935	T	C	T63690935C	RTEL1	NM_032957.4(RTEL1):c.2616T>C:p.Pro872=	coding	Benign
20	63690937	G	A	G63690937A	RTEL1	NM_032957.4(RTEL1):c.2618G>A:p.Gly873Asp	coding	Benign/Likely_benign
20	63691799	C	T	C63691799T	RTEL1	NM_032957.4(RTEL1):c.2686C>T:p.Arg896Ter	coding	Pathogenic/Likely_pathogenic
20	63692813	C	T	C63692813T	RTEL1	NM_001283009.1(RTEL1):c.2661C>T:p.Pro887=	coding	Benign
20	63692873	G	A	G63692873A	RTEL1	NM_001283009.2(RTEL1):c.2721G>A:p.Leu907=	coding	Benign
20	63692877	C	T	C63692877T	RTEL1	NM_001283009.2(RTEL1):c.2725C>T:p.Gln909Ter	coding	Pathogenic
20	63692927	C	T	C63692927T	RTEL1	NM_032957.4(RTEL1):c.2847C>T:p.Ser949=	coding	Benign/Likely_benign
20	63692937	G	A	G63692937A	RTEL1	NM_001283009.1(RTEL1):c.2785G>A:p.Ala929Thr	coding	Benign
20	63692939	C	T	C63692939T	RTEL1	NM_001283009.1(RTEL1):c.2787C>T:p.Ala929=	coding	Benign
20	63692957	C	T	C63692957T	RTEL1	NM_032957.4(RTEL1):c.2877C>T:p.Leu959=	coding	Benign/Likely_benign
20	63692975	G	C	G63692975C	RTEL1	NM_001283009.1(RTEL1):c.2823G>C:p.Glu941Asp	coding	Benign
20	63693189	G	C	G63693189C	RTEL1	NM_032957.4(RTEL1):c.2970G>C:p.Glu990Asp	coding	Benign
20	63693211	C	T	C63693211T	RTEL1	NM_016434.3(RTEL1):c.2920C>T:p.Arg974Ter	coding	Pathogenic
20	63693247	C	T	C63693247T	RTEL1	NM_032957.4(RTEL1):c.3028C>T:p.Arg1010Ter	coding	Pathogenic/Likely_pathogenic
20	63693266	C	T	C63693266T	RTEL1	NM_001283009.1(RTEL1):c.2975C>T:p.Pro992Leu	coding	Benign/Likely_benign
20	63694417	C	T	C63694417T	RTEL1	NM_001283009.2(RTEL1):c.3038C>T:p.Ala1013Val	coding	Benign
20	63694435	A	G	A63694435G	RTEL1	NM_032957.4(RTEL1):c.3128A>G:p.Gln1043Arg	coding	Benign
20	63694469	G	A	G63694469A	RTEL1	NM_001283009.2(RTEL1):c.3090G>A:p.Ser1030=	coding	Benign
20	63694480	C	A	C63694480A	RTEL1	NM_001283009.1(RTEL1):c.3101C>A:p.Pro1034His	coding	Benign
20	63694757	A	C	A63694757C	RTEL1	NM_032957.4(RTEL1):c.3198A>C:p.Gln1066His	coding	Benign
20	63694800	C	T	C63694800T	RTEL1	NM_001283009.2(RTEL1):c.3169C>T:p.Gln1057Ter	coding	Pathogenic
20	63694806	G	A	G63694806A	RTEL1	NM_001283009.1(RTEL1):c.3175G>A:p.Ala1059Thr	coding	Benign
20	63695093	A	C	A63695093C	RTEL1	NM_016434.3(RTEL1):c.3371A>C:p.His1124Pro	coding	Pathogenic
20	63695134	C	A	C63695134A	RTEL1	NM_001283009.1(RTEL1):c.3412C>A:p.Arg1138=	coding	Benign
20	63695145	G	A	G63695145A	RTEL1	NM_001283009.1(RTEL1):c.3423G>A:p.Pro1141=	coding	Benign
20	63695226	G	T	G63695226T	RTEL1	NM_016434.3(RTEL1):c.3499+5G>T	noncoding	Benign
20	63695389	G	A	G63695389A	RTEL1	NM_001283009.1(RTEL1):c.3561G>A:p.Gln1187=	coding	Benign/Likely_benign
20	63695520	C	T	C63695520T	RTEL1	NM_001283009.1(RTEL1):c.3692C>T:p.Thr1231Met	coding	Benign
20	63695521	G	A	G63695521A	RTEL1	NM_032957.4(RTEL1):c.3724+41G>A	coding	Benign/Likely_benign
20	63695530	G	A	G63695530A	RTEL1	NM_001283009.2(RTEL1):c.3702G>A:p.Pro1234=	coding	Benign
20	63695619	G	A	G63695619A	RTEL1	NM_001283009.1(RTEL1):c.3791G>A:p.Arg1264His	coding	Pathogenic/Likely_pathogenic
20	63695773	C	G	C63695773G	RTEL1	NM_001283009.1(RTEL1):c.3823-5C>G	noncoding	Benign/Likely_benign
20	63697022	A	G	A63697022G	TNFRSF6B;RTEL1;RTEL1-TNFRSF6B	NM_003823.4(TNFRSF6B):c.255A>G:p.Leu85=	coding	Benign
20	63697178	C	T	C63697178T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.411C>T:p.Gly137=	coding	Benign
20	63697368	A	G	A63697368G	TNFRSF6B	NM_003823.4(TNFRSF6B):c.465A>G:p.Pro155=	coding	Benign
20	63700673	C	T	C63700673T	ARFRP1	NM_001267547.3(ARFRP1):c.447G>A:p.Thr149=	coding	Benign
20	63742728	G	A	G63742728A	SLC2A4RG	NM_020062.4(SLC2A4RG):c.990G>A:p.Pro330=	coding	Benign
20	63742759	G	C	G63742759C	SLC2A4RG	NM_020062.4(SLC2A4RG):c.1021G>C:p.Ala341Pro	coding	Benign
20	63873800	G	A	G63873800A	TPD52L2	NM_003288.4(TPD52L2):c.298G>A:p.Val100Met	coding	Benign
20	63895343	G	A	G63895343A	DNAJC5	NM_025219.3(DNAJC5):c.-12+20G>A	noncoding	Benign
20	63928390	A	G	A63928390G	DNAJC5	NM_025219.3(DNAJC5):c.45A>G:p.Ser15=	coding	Benign/Likely_benign
20	63928462	C	T	C63928462T	DNAJC5	NM_025219.3(DNAJC5):c.107+10C>T	noncoding	Benign/Likely_benign
20	63928464	A	G	A63928464G	DNAJC5	NM_025219.3(DNAJC5):c.107+12A>G	noncoding	Benign/Likely_benign
20	63928611	G	A	G63928611A	DNAJC5	NM_025219.3(DNAJC5):c.107+159G>A	noncoding	Benign
20	63929046	C	T	C63929046T	DNAJC5	NM_025219.3(DNAJC5):c.108-266C>T	noncoding	Benign
20	63929309	C	T	C63929309T	DNAJC5	NM_025219.3(DNAJC5):c.108-3C>T	noncoding	Benign/Likely_benign
20	63929336	C	T	C63929336T	DNAJC5	NM_025219.3(DNAJC5):c.132C>T:p.Pro44=	coding	Benign/Likely_benign
20	63929348	C	T	C63929348T	DNAJC5	NM_025219.3(DNAJC5):c.144C>T:p.Pro48=	coding	Benign
20	63929432	C	T	C63929432T	DNAJC5	NM_025219.3(DNAJC5):c.228C>T:p.Tyr76=	coding	Benign
20	63929486	C	T	C63929486T	DNAJC5	NM_025219.3(DNAJC5):c.282C>T:p.Asn94=	coding	Benign/Likely_benign
20	63930841	C	T	C63930841T	DNAJC5	NM_025219.3(DNAJC5):c.322-10C>T	noncoding	Benign
20	63930873	T	G	T63930873G	DNAJC5	NM_025219.3(DNAJC5):c.344T>G:p.Leu115Arg	coding	Pathogenic
20	63930985	C	T	C63930985T	DNAJC5	NM_025219.3(DNAJC5):c.456C>T:p.Pro152=	coding	Benign/Likely_benign
20	63931472	A	G	A63931472G	DNAJC5	NM_025219.3(DNAJC5):c.501A>G:p.Thr167=	coding	Benign
20	63931581	C	G	C63931581G	DNAJC5	NM_025219.3(DNAJC5):c.*13C>G	noncoding	Benign
20	63932295	C	A	C63932295A	DNAJC5	NM_025219.3(DNAJC5):c.*727C>A	noncoding	Benign/Likely_benign
20	63932295	C	G	C63932295G	DNAJC5	NM_025219.3(DNAJC5):c.*727C>G	noncoding	Benign/Likely_benign
20	63932296	G	A	G63932296A	DNAJC5	NM_025219.3(DNAJC5):c.*728G>A	noncoding	Benign/Likely_benign
20	63932318	G	T	G63932318T	DNAJC5	NM_025219.3(DNAJC5):c.*750G>T	noncoding	Benign/Likely_benign
20	63932385	C	T	C63932385T	DNAJC5	NM_025219.3(DNAJC5):c.*817C>T	noncoding	Benign/Likely_benign
20	63932421	C	G	C63932421G	DNAJC5	NM_025219.3(DNAJC5):c.*853C>G	noncoding	Benign/Likely_benign
20	63932463	C	G	C63932463G	DNAJC5	NM_025219.3(DNAJC5):c.*895C>G	noncoding	Benign/Likely_benign
20	63932477	G	T	G63932477T	DNAJC5	NM_025219.3(DNAJC5):c.*909G>T	noncoding	Benign/Likely_benign
20	63932647	T	C	T63932647C	DNAJC5	NM_025219.3(DNAJC5):c.*1079T>C	noncoding	Benign/Likely_benign
20	63932674	T	G	T63932674G	DNAJC5	NM_025219.3(DNAJC5):c.*1106T>G	noncoding	Benign
20	63932751	G	T	G63932751T	DNAJC5	NM_025219.3(DNAJC5):c.*1183G>T	noncoding	Benign/Likely_benign
20	63932803	C	T	C63932803T	DNAJC5	NM_025219.3(DNAJC5):c.*1235C>T	noncoding	Benign/Likely_benign
20	63932871	C	T	C63932871T	DNAJC5	NM_025219.3(DNAJC5):c.*1303C>T	noncoding	Benign/Likely_benign
20	63932910	G	A	G63932910A	DNAJC5	NM_025219.3(DNAJC5):c.*1342G>A	noncoding	Benign/Likely_benign
20	63932932	C	T	C63932932T	DNAJC5	NM_025219.3(DNAJC5):c.*1364C>T	noncoding	Benign/Likely_benign
20	63933001	G	A	G63933001A	DNAJC5	NM_025219.3(DNAJC5):c.*1433G>A	noncoding	Benign/Likely_benign
20	63933010	A	G	A63933010G	DNAJC5	NM_025219.3(DNAJC5):c.*1442A>G	noncoding	Benign/Likely_benign
20	63933124	A	G	A63933124G	DNAJC5	NM_025219.3(DNAJC5):c.*1556A>G	noncoding	Benign/Likely_benign
20	63933172	C	T	C63933172T	DNAJC5	NM_025219.3(DNAJC5):c.*1604C>T	noncoding	Benign/Likely_benign
20	63933198	C	T	C63933198T	DNAJC5	NM_025219.3(DNAJC5):c.*1630C>T	noncoding	Benign/Likely_benign
20	63933211	T	C	T63933211C	DNAJC5	NM_025219.3(DNAJC5):c.*1643T>C	noncoding	Benign/Likely_benign
20	63933216	C	T	C63933216T	DNAJC5	NM_025219.3(DNAJC5):c.*1648C>T	noncoding	Benign/Likely_benign
20	63933388	C	A	C63933388A	DNAJC5	NM_025219.3(DNAJC5):c.*1820C>A	noncoding	Benign/Likely_benign
20	63933504	T	C	T63933504C	DNAJC5	NM_025219.3(DNAJC5):c.*1936T>C	noncoding	Benign
20	63933607	C	T	C63933607T	DNAJC5	NM_025219.3(DNAJC5):c.*2039C>T	noncoding	Benign/Likely_benign
20	63933776	C	T	C63933776T	DNAJC5	NM_025219.3(DNAJC5):c.*2208C>T	noncoding	Benign/Likely_benign
20	63933786	A	G	A63933786G	DNAJC5	NM_025219.3(DNAJC5):c.*2218A>G	noncoding	Benign/Likely_benign
20	63934131	A	C	A63934131C	DNAJC5	NM_025219.3(DNAJC5):c.*2563A>C	noncoding	Benign
20	63934169	C	T	C63934169T	DNAJC5	NM_025219.3(DNAJC5):c.*2601C>T	noncoding	Benign/Likely_benign
20	63934269	C	T	C63934269T	DNAJC5	NM_025219.3(DNAJC5):c.*2701C>T	noncoding	Benign
20	63934279	G	A	G63934279A	DNAJC5	NM_025219.3(DNAJC5):c.*2711G>A	noncoding	Benign/Likely_benign
20	63934291	A	G	A63934291G	DNAJC5	NM_025219.3(DNAJC5):c.*2723A>G	noncoding	Benign/Likely_benign
20	63934293	G	A	G63934293A	DNAJC5	NM_025219.3(DNAJC5):c.*2725G>A	noncoding	Benign/Likely_benign
20	63934446	T	C	T63934446C	DNAJC5	NM_025219.3(DNAJC5):c.*2878T>C	noncoding	Benign/Likely_benign
20	63934480	C	T	C63934480T	DNAJC5	NM_025219.3(DNAJC5):c.*2912C>T	noncoding	Benign
20	63934772	C	T	C63934772T	DNAJC5	NM_025219.3(DNAJC5):c.*3204C>T	noncoding	Benign/Likely_benign
20	63934837	C	G	C63934837G	DNAJC5	NM_025219.3(DNAJC5):c.*3269C>G	noncoding	Benign/Likely_benign
20	63934981	A	G	A63934981G	DNAJC5	NM_025219.3(DNAJC5):c.*3413A>G	noncoding	Benign/Likely_benign
20	63935000	G	A	G63935000A	DNAJC5	NM_025219.3(DNAJC5):c.*3432G>A	noncoding	Benign/Likely_benign
20	63935238	A	G	A63935238G	DNAJC5	NM_025219.3(DNAJC5):c.*3670A>G	noncoding	Benign/Likely_benign
20	63935574	C	T	C63935574T	DNAJC5	NM_025219.3(DNAJC5):c.*4006C>T	noncoding	Benign/Likely_benign
20	63935575	G	C	G63935575C	DNAJC5	NM_025219.3(DNAJC5):c.*4007G>C	noncoding	Benign
20	63935638	C	G	C63935638G	DNAJC5	NM_025219.3(DNAJC5):c.*4070C>G	noncoding	Benign
20	63935685	C	T	C63935685T	DNAJC5	NM_025219.3(DNAJC5):c.*4117C>T	noncoding	Benign/Likely_benign
20	63935697	G	C	G63935697C	DNAJC5	NM_025219.3(DNAJC5):c.*4129G>C	noncoding	Benign/Likely_benign
20	63935699	C	T	C63935699T	DNAJC5	NM_025219.3(DNAJC5):c.*4131C>T	noncoding	Benign/Likely_benign
20	63935868	C	T	C63935868T	DNAJC5	NM_025219.3(DNAJC5):c.*4300C>T	noncoding	Benign/Likely_benign
20	63935953	A	T	A63935953T	DNAJC5	NM_025219.3(DNAJC5):c.*4385A>T	noncoding	Benign/Likely_benign
20	63981167	C	T	C63981167T	PRPF6	NM_012469.4(PRPF6):c.-79C>T	noncoding	Benign
20	63981171	G	A	G63981171A	PRPF6	NM_012469.4(PRPF6):c.-75G>A	noncoding	Benign
20	63981221	C	T	C63981221T	PRPF6	NM_012469.4(PRPF6):c.-25C>T	noncoding	Benign
20	63981287	C	T	C63981287T	PRPF6	NM_012469.4(PRPF6):c.42C>T:p.Pro14=	coding	Benign
20	63981322	G	A	G63981322A	PRPF6	NM_012469.4(PRPF6):c.71+6G>A	noncoding	Benign
20	63983095	A	G	A63983095G	PRPF6	NM_012469.4(PRPF6):c.120A>G:p.Ala40=	coding	Benign
20	63995103	A	G	A63995103G	PRPF6	NM_012469.4(PRPF6):c.615+11A>G	noncoding	Benign
20	64001190	C	T	C64001190T	PRPF6	NM_012469.4(PRPF6):c.1137C>T:p.Ala379=	coding	Benign/Likely_benign
20	64010222	G	A	G64010222A	PRPF6	NM_012469.4(PRPF6):c.1209G>A:p.Ser403=	coding	Benign
20	64010252	G	A	G64010252A	PRPF6	NM_012469.4(PRPF6):c.1239G>A:p.Leu413=	coding	Benign
20	64011428	G	A	G64011428A	PRPF6	NM_012469.4(PRPF6):c.1449G>A:p.Val483=	coding	Benign
20	64011513	A	G	A64011513G	PRPF6	NM_012469.4(PRPF6):c.1524+10A>G	noncoding	Benign
20	64016855	C	A	C64016855A	PRPF6	NM_012469.4(PRPF6):c.1647+10C>A	noncoding	Benign
20	64022748	C	G	C64022748G	PRPF6	NM_012469.4(PRPF6):c.1648-9C>G	noncoding	Benign
20	64027138	C	T	C64027138T	PRPF6	NM_012469.4(PRPF6):c.2185C>T:p.Arg729Trp	coding	Pathogenic
20	64027163	G	C	G64027163C	PRPF6	NM_012469.4(PRPF6):c.2205+5G>C	noncoding	Benign
20	64027725	C	T	C64027725T	PRPF6	NM_012469.4(PRPF6):c.2328C>T:p.Asn776=	coding	Benign/Likely_benign
20	64028467	T	C	T64028467C	PRPF6	NM_012469.4(PRPF6):c.2340-11T>C	noncoding	Benign
20	64028584	C	T	C64028584T	PRPF6	NM_012469.4(PRPF6):c.2431+15C>T	noncoding	Benign
20	64029405	C	T	C64029405T	PRPF6	NM_012469.4(PRPF6):c.2460C>T:p.Leu820=	coding	Benign
20	64029506	C	T	C64029506T	PRPF6	NM_012469.4(PRPF6):c.2546+15C>T	noncoding	Benign
20	64031987	G	A	G64031987A	PRPF6	NM_012469.4(PRPF6):c.2616G>A:p.Ser872=	coding	Benign
20	64032831	G	T	G64032831T	PRPF6	NM_012469.4(PRPF6):c.2674-10G>T	noncoding	Benign
20	64032910	G	A	G64032910A	PRPF6	NM_012469.4(PRPF6):c.2743G>A:p.Val915Met	coding	Benign/Likely_benign
20	64033000	G	A	G64033000A	PRPF6	NM_012469.4(PRPF6):c.*7G>A	noncoding	Benign
20	64033012	C	T	C64033012T	PRPF6	NM_012469.4(PRPF6):c.*19C>T	noncoding	Benign
20	64048520	C	T	C64048520T	SOX18	NM_018419.3(SOX18):c.801G>A:p.Ala267=	coding	Benign
20	64048601	G	T	G64048601T	SOX18	NM_018419.3(SOX18):c.720C>A:p.Cys240Ter	coding	Pathogenic
20	64048609	C	A	C64048609A	SOX18	NM_018419.3(SOX18):c.712G>T:p.Glu238Ter	coding	Pathogenic
20	64048840	G	A	G64048840A	SOX18	NM_018419.3(SOX18):c.481C>T:p.Gln161Ter	coding	Pathogenic
20	64048912	C	T	C64048912T	SOX18	NM_018419.3(SOX18):c.409G>A:p.Glu137Lys	coding	Benign
20	64049125	T	G	T64049125G	SOX18	NM_018419.3(SOX18):c.358+34A>C	noncoding	Benign
20	64049207	C	G	C64049207G	SOX18	NM_018419.3(SOX18):c.310G>C:p.Ala104Pro	coding	Pathogenic
20	64049234	A	T	A64049234T	SOX18	NM_018419.3(SOX18):c.283T>A:p.Trp95Arg	coding	Pathogenic
20	64049274	G	A	G64049274A	SOX18	NM_018419.3(SOX18):c.243C>T:p.Asp81=	coding	Benign
20	64097919	G	A	G64097919A	OPRL1	NM_182647.4(OPRL1):c.351G>A:p.Pro117=	coding	Benign
20	64098490	A	G	A64098490G	OPRL1	NM_182647.4(OPRL1):c.804A>G:p.Val268=	coding	Benign
20	64098712	C	T	C64098712T	OPRL1	NM_182647.4(OPRL1):c.1026C>T:p.Asp342=	coding	Benign
20	64198926	G	A	G64198926A	MYT1	NM_004535.3(MYT1):c.55+10G>A	noncoding	Benign
20	64205718	G	A	G64205718A	MYT1	NM_004535.3(MYT1):c.315G>A:p.Ser105=	coding	Benign
20	64207605	G	A	G64207605A	MYT1	NM_004535.3(MYT1):c.409G>A:p.Val137Ile	coding	Benign
20	64207673	C	T	C64207673T	MYT1	NM_004535.3(MYT1):c.477C>T:p.Ser159=	coding	Benign
20	64208267	C	A	C64208267A	MYT1	NM_004535.3(MYT1):c.1071C>A:p.His357Gln	coding	Benign
20	64213639	G	T	G64213639T	MYT1	NM_004535.3(MYT1):c.1623G>T:p.Arg541=	coding	Benign
20	64219023	C	T	C64219023T	MYT1	NM_004535.3(MYT1):c.1959C>T:p.Asp653=	coding	Benign
20	64227888	C	T	C64227888T	MYT1	NM_004535.3(MYT1):c.2592C>T:p.Ser864=	coding	Benign
20	64227945	C	T	C64227945T	MYT1	NM_004535.3(MYT1):c.2649C>T:p.Asp883=	coding	Benign
20	64227960	C	T	C64227960T	MYT1	NM_004535.3(MYT1):c.2664C>T:p.Pro888=	coding	Benign
20	64232248	C	T	C64232248T	MYT1	NM_004535.3(MYT1):c.2760C>T:p.Ala920=	coding	Benign
21	6116503	C	T	C6116503T	SIK1B	NM_001320643.3(SIK1B):c.379C>T:p.Arg127Trp	coding	Pathogenic
21	10561201	A	G	A10561201G	TPTE	NM_199261.3(TPTE):c.446+10A>G	noncoding	Benign
21	14165268	A	G	A14165268G	LIPI	NM_198996.3(LIPI):c.919T>C:p.Cys307Arg	coding	Benign
21	14510301	T	C	T14510301C	SAMSN1	NM_022136.5(SAMSN1):c.561+9A>G	noncoding	Benign
21	14964781	T	C	T14964781C	NRIP1	NM_003489.4(NRIP1):c.3412A>G:p.Ser1138Gly	coding	Benign
21	14964790	G	A	G14964790A	NRIP1	NM_003489.4(NRIP1):c.3403C>T:p.Arg1135Cys	coding	Benign
21	14965127	C	A	C14965127A	NRIP1	NM_003489.4(NRIP1):c.3066G>T:p.Gly1022=	coding	Benign
21	14965217	G	A	G14965217A	NRIP1	NM_003489.4(NRIP1):c.2976C>T:p.Ser992=	coding	Benign
21	14965340	C	T	C14965340T	NRIP1	NM_003489.4(NRIP1):c.2853G>A:p.Pro951=	coding	Benign
21	14965443	G	A	G14965443A	NRIP1	NM_003489.4(NRIP1):c.2750C>T:p.Ser917Leu	coding	Benign
21	14965938	A	G	A14965938G	NRIP1	NM_003489.4(NRIP1):c.2255T>C:p.Met752Thr	coding	Benign
21	14966333	C	T	C14966333T	NRIP1	NM_003489.4(NRIP1):c.1860G>A:p.Gln620=	coding	Benign
21	14966493	T	C	T14966493C	NRIP1	NM_003489.4(NRIP1):c.1700A>G:p.Asn567Ser	coding	Benign
21	14967215	A	T	A14967215T	NRIP1	NM_003489.4(NRIP1):c.978T>A:p.Asn326Lys	coding	Benign
21	14968084	C	T	C14968084T	NRIP1	NM_003489.4(NRIP1):c.109G>A:p.Val37Ile	coding	Benign
21	17560709	T	A	T17560709A	CXADR	NM_001338.5(CXADR):c.579T>A:p.Thr193=	coding	Benign
21	18279012	G	C	G18279012C	TMPRSS15	NM_002772.3(TMPRSS15):c.2716C>G:p.Pro906Ala	coding	Benign
21	18279024	G	C	G18279024C	TMPRSS15	NM_002772.3(TMPRSS15):c.2704C>G:p.Gln902Glu	coding	Benign
21	18281139	G	A	G18281139A	TMPRSS15	NM_002772.3(TMPRSS15):c.2569C>T:p.Arg857Ter	coding	Pathogenic
21	18315189	G	A	G18315189A	TMPRSS15	NM_002772.3(TMPRSS15):c.1989C>T:p.Asp663=	coding	Benign
21	18329260	A	G	A18329260G	TMPRSS15	NM_002772.3(TMPRSS15):c.1689T>C:p.Asn563=	coding	Benign
21	18332130	T	C	T18332130C	TMPRSS15	NM_002772.3(TMPRSS15):c.1608A>G:p.Thr536=	coding	Benign
21	18341466	C	T	C18341466T	TMPRSS15	NM_002772.3(TMPRSS15):c.1511G>A:p.Gly504Glu	coding	Benign
21	18341504	C	A	C18341504A	TMPRSS15	NM_002772.3(TMPRSS15):c.1473G>T:p.Ala491=	coding	Benign
21	18343504	A	C	A18343504C	TMPRSS15	NM_002772.3(TMPRSS15):c.1428+2T>G	noncoding	Pathogenic
21	18343594	A	G	A18343594G	TMPRSS15	NM_002772.3(TMPRSS15):c.1340T>C:p.Met447Thr	coding	Benign
21	18343630	T	C	T18343630C	TMPRSS15	NM_002772.3(TMPRSS15):c.1304A>G:p.His435Arg	coding	Benign
21	18352932	T	C	T18352932C	TMPRSS15	NM_002772.3(TMPRSS15):c.1142A>G:p.Asn381Ser	coding	Benign
21	18359856	G	A	G18359856A	TMPRSS15	NM_002772.3(TMPRSS15):c.781C>T:p.Gln261Ter	coding	Pathogenic
21	18379287	A	G	A18379287G	TMPRSS15	NM_002772.3(TMPRSS15):c.528T>C:p.Thr176=	coding	Benign
21	18398281	G	A	G18398281A	TMPRSS15	NM_002772.3(TMPRSS15):c.194C>T:p.Thr65Ile	coding	Benign
21	25639822	A	G	A25639822G	JAM2	NM_021219.4(JAM2):c.1A>G:p.Met1Val	coding	Pathogenic
21	25693837	G	A	G25693837A	JAM2	NM_021219.4(JAM2):c.323G>A:p.Arg108His	coding	Pathogenic
21	25698693	A	G	A25698693G	JAM2	NM_021219.4(JAM2):c.411A>G:p.Pro137=	coding	Benign
21	25698786	G	C	G25698786C	JAM2	NM_021219.4(JAM2):c.504G>C:p.Trp168Cys	coding	Pathogenic
21	25702257	C	T	C25702257T	JAM2	NM_021219.4(JAM2):c.685C>T:p.Arg229Ter	coding	Pathogenic
21	25752218	C	T	C25752218T	GABPA	NM_002040.4(GABPA):c.537C>T:p.Arg179=	coding	Benign
21	25764304	G	A	G25764304A	GABPA	NM_002040.4(GABPA):c.897G>A:p.Ala299=	coding	Benign
21	25880703	C	T	C25880703T	APP	NM_000484.4(APP):c.*967G>A	noncoding	Benign
21	25880756	C	T	C25880756T	APP	NM_000484.4(APP):c.*914G>A	noncoding	Benign
21	25880757	G	C	G25880757C	APP	NM_000484.4(APP):c.*913C>G	noncoding	Benign
21	25880946	G	A	G25880946A	APP	NM_000484.4(APP):c.*724C>T	noncoding	Benign
21	25881766	G	A	G25881766A	APP	NM_000484.4(APP):c.2217C>T:p.Asp739=	coding	Benign
21	25881781	A	G	A25881781G	APP	NM_000484.4(APP):c.2212-10T>C	noncoding	Benign
21	25891783	A	C	A25891783C	APP	NM_000484.4(APP):c.2150T>G:p.Val717Gly	coding	Pathogenic
21	25891784	C	A	C25891784A	APP	NM_000484.4(APP):c.2149G>T:p.Val717Phe	coding	Pathogenic
21	25891784	C	G	C25891784G	APP	NM_000484.4(APP):c.2149G>C:p.Val717Leu	coding	Pathogenic
21	25891784	C	T	C25891784T	APP	NM_000484.4(APP):c.2149G>A:p.Val717Ile	coding	Pathogenic
21	25891785	G	T	G25891785T	APP	NM_000484.4(APP):c.2148C>A:p.Ile716=	coding	Benign
21	25891787	T	C	T25891787C	APP	NM_000484.4(APP):c.2146A>G:p.Ile716Val	coding	Pathogenic
21	25891792	G	A	G25891792A	APP	NM_000484.4(APP):c.2141C>T:p.Thr714Ile	coding	Pathogenic
21	25891793	T	C	T25891793C	APP	NM_000484.4(APP):c.2140A>G:p.Thr714Ala	coding	Pathogenic
21	25891800	G	T	G25891800T	APP	NM_000484.4(APP):c.2133C>A:p.Val711=	coding	Benign
21	25891809	G	A	G25891809A	APP	NM_000484.4(APP):c.2124C>T:p.Gly708=	coding	Benign/Likely_benign
21	25891820	G	C	G25891820C	APP	NM_000484.4(APP):c.2113C>G:p.Leu705Val	coding	Pathogenic
21	25891853	C	T	C25891853T	APP	NM_000484.4(APP):c.2080G>A:p.Asp694Asn	coding	Pathogenic
21	25891855	T	C	T25891855C	APP	NM_000484.4(APP):c.2078A>G:p.Glu693Gly	coding	Pathogenic
21	25891856	C	G	C25891856G	APP	NM_000484.4(APP):c.2077G>C:p.Glu693Gln	coding	Pathogenic
21	25891856	C	T	C25891856T	APP	NM_000484.4(APP):c.2077G>A:p.Glu693Lys	coding	Pathogenic
21	25891858	G	C	G25891858C	APP	NM_000484.4(APP):c.2075C>G:p.Ala692Gly	coding	Pathogenic
21	25897619	G	A	G25897619A	APP	NM_000484.4(APP):c.2018C>T:p.Ala673Val	coding	Pathogenic
21	25911810	T	C	T25911810C	APP	NM_000484.4(APP):c.1840A>G:p.Ser614Gly	coding	Benign
21	25911817	T	C	T25911817C	APP	NM_000484.4(APP):c.1833A>G:p.Gly611=	coding	Benign
21	25911855	C	T	C25911855T	APP	NM_000484.4(APP):c.1795G>A:p.Glu599Lys	coding	Benign/Likely_benign
21	25954663	A	G	A25954663G	APP	NM_000484.4(APP):c.1614T>C:p.Tyr538=	coding	Benign
21	25975223	G	A	G25975223A	APP	NM_000484.4(APP):c.1305C>T:p.Phe435=	coding	Benign/Likely_benign
21	25975945	A	G	A25975945G	APP	NM_000484.4(APP):c.1299+9T>C	noncoding	Benign
21	26000073	G	A	G26000073A	APP	NM_000484.4(APP):c.975C>T:p.Gly325=	coding	Benign
21	26000158	G	A	G26000158A	APP	NM_000484.4(APP):c.890C>T:p.Thr297Met	coding	Benign
21	26021879	T	A	T26021879A	APP	NM_000484.4(APP):c.826A>T:p.Thr276Ser	coding	Benign
21	26021964	G	A	G26021964A	APP	NM_000484.4(APP):c.741C>T:p.Asp247=	coding	Benign
21	26089934	C	T	C26089934T	APP	NM_000484.4(APP):c.355+9G>A	noncoding	Benign/Likely_benign
21	26111972	G	T	G26111972T	APP	NM_000484.4(APP):c.225+7C>A	noncoding	Benign
21	26170731	C	G	C26170731G	APP	NM_000484.4(APP):c.-111G>C	noncoding	Benign
21	26838017	G	C	G26838017C	ADAMTS1	NM_006988.5(ADAMTS1):c.2466C>G:p.Thr822=	coding	Benign
21	26838049	G	A	G26838049A	ADAMTS1	NM_006988.5(ADAMTS1):c.2434C>T:p.Arg812Cys	coding	Benign
21	26838155	T	C	T26838155C	ADAMTS1	NM_006988.5(ADAMTS1):c.2328A>G:p.Thr776=	coding	Benign
21	26839724	C	T	C26839724T	ADAMTS1	NM_006988.5(ADAMTS1):c.1891G>A:p.Glu631Lys	coding	Benign
21	26839772	G	C	G26839772C	ADAMTS1	NM_006988.5(ADAMTS1):c.1853-10C>G	noncoding	Benign
21	26840354	C	T	C26840354T	ADAMTS1	NM_006988.5(ADAMTS1):c.1587G>A:p.Ala529=	coding	Benign
21	26840483	C	A	C26840483A	ADAMTS1	NM_006988.5(ADAMTS1):c.1458G>T:p.Arg486=	coding	Benign
21	26840542	G	C	G26840542C	ADAMTS1	NM_006988.5(ADAMTS1):c.1399C>G:p.Pro467Ala	coding	Benign
21	26841919	T	C	T26841919C	ADAMTS1	NM_006988.5(ADAMTS1):c.1149A>G:p.Arg383=	coding	Benign
21	26842332	C	T	C26842332T	ADAMTS1	NM_006988.5(ADAMTS1):c.1077+7G>A	noncoding	Benign
21	26844472	C	T	C26844472T	ADAMTS1	NM_006988.5(ADAMTS1):c.483G>A:p.Leu161=	coding	Benign
21	26930035	C	T	C26930035T	ADAMTS5	NM_007038.5(ADAMTS5):c.2076G>A:p.Leu692=	coding	Benign
21	26965464	G	A	G26965464A	ADAMTS5	NM_007038.5(ADAMTS5):c.928C>T:p.His310Tyr	coding	Benign
21	26965552	C	A	C26965552A	ADAMTS5	NM_007038.5(ADAMTS5):c.840G>T:p.Ala280=	coding	Benign
21	26965662	G	A	G26965662A	ADAMTS5	NM_007038.5(ADAMTS5):c.730C>T:p.Leu244Phe	coding	Benign
21	28966992	G	A	G28966992A	LTN1	NM_015565.3(LTN1):c.1499C>T:p.Ala500Val	coding	Benign
21	28967105	T	G	T28967105G	LTN1	NM_015565.3(LTN1):c.1386A>C:p.Glu462Asp	coding	Benign
21	29039046	T	G	T29039046G	USP16	NM_006447.3(USP16):c.753T>G:p.Leu251=	coding	Benign
21	29047330	A	G	A29047330G	USP16	NM_006447.3(USP16):c.2011+9A>G	noncoding	Benign
21	29061555	C	T	C29061555T	CCT8	NM_006585.4(CCT8):c.1225G>A:p.Val409Ile	coding	Benign
21	29553703	G	A	G29553703A	GRIK1	NM_000830.5(GRIK1):c.2609C>T:p.Ala870Val	coding	Benign
21	29555094	T	A	T29555094A	GRIK1	NM_000830.5(GRIK1):c.2565A>T:p.Gly855=	coding	Benign
21	29596523	A	T	A29596523T	GRIK1	NM_000830.5(GRIK1):c.1251+3T>A	coding	Benign
21	29651160	G	A	G29651160A	GRIK1	NM_000830.5(GRIK1):c.912C>T:p.Ala304=	coding	Benign
21	29673162	G	A	G29673162A	GRIK1	NM_000830.5(GRIK1):c.547C>T:p.Leu183=	coding	Benign
21	30215636	A	G	A30215636G	CLDN8	NM_199328.3(CLDN8):c.290T>C:p.Met97Thr	coding	Benign
21	30215645	G	A	G30215645A	CLDN8	NM_199328.3(CLDN8):c.281C>T:p.Ala94Val	coding	Benign
21	30592588	G	T	G30592588T	KRTAP6-3	NM_181605.4(KRTAP6-3):c.143G>T:p.Gly48Val	coding	Benign
21	31266490	C	T	C31266490T	TIAM1	NM_003253.3(TIAM1):c.483G>A:p.Glu161=	coding	Benign
21	31266881	C	T	C31266881T	TIAM1	NM_003253.3(TIAM1):c.92G>A:p.Arg31His	coding	Benign
21	31659661	A	G	A31659661G	SOD1	NM_000454.4(SOD1):c.-109A>G	noncoding	Benign
21	31659687	T	C	T31659687C	SOD1	NM_000454.4(SOD1):c.-83T>C	noncoding	Benign
21	31659722	T	A	T31659722A	SOD1	NM_000454.4(SOD1):c.-48T>A	noncoding	Benign
21	31659782	G	A	G31659782A	SOD1	NM_000454.4(SOD1):c.13G>A:p.Ala5Thr	coding	Pathogenic
21	31659782	G	T	G31659782T	SOD1	NM_000454.5(SOD1):c.13G>T:p.Ala5Ser	coding	Pathogenic
21	31659783	C	T	C31659783T	SOD1	NM_000454.4(SOD1):c.14C>T:p.Ala5Val	coding	Pathogenic
21	31659789	G	T	G31659789T	SOD1	NM_000454.4(SOD1):c.20G>T:p.Cys7Phe	coding	Pathogenic
21	31659806	G	C	G31659806C	SOD1	NM_000454.4(SOD1):c.37G>C:p.Gly13Arg	coding	Pathogenic
21	31659818	G	A	G31659818A	SOD1	NM_000454.4(SOD1):c.49G>A:p.Gly17Ser	coding	Pathogenic
21	31659833	G	A	G31659833A	SOD1	NM_000454.4(SOD1):c.64G>A:p.Glu22Lys	coding	Pathogenic
21	31663682	T	A	T31663682A	SOD1	NM_000454.4(SOD1):c.73-108T>A	noncoding	Benign
21	31663829	G	A	G31663829A	SOD1	NM_000454.4(SOD1):c.112G>A:p.Gly38Arg	coding	Pathogenic
21	31663829	G	C	G31663829C	SOD1	NM_000454.4(SOD1):c.112G>C:p.Gly38Arg	coding	Pathogenic
21	31663841	G	A	G31663841A	SOD1	NM_000454.4(SOD1):c.124G>A:p.Gly42Ser	coding	Pathogenic
21	31663842	G	A	G31663842A	SOD1	NM_000454.4(SOD1):c.125G>A:p.Gly42Asp	coding	Pathogenic
21	31663848	A	G	A31663848G	SOD1	NM_000454.4(SOD1):c.131A>G:p.His44Arg	coding	Pathogenic
21	31663854	T	G	T31663854G	SOD1	NM_000454.4(SOD1):c.137T>G:p.Phe46Cys	coding	Pathogenic
21	31663857	A	G	A31663857G	SOD1	NM_000454.4(SOD1):c.140A>G:p.His47Arg	coding	Pathogenic
21	31666496	G	A	G31666496A	SOD1	NM_000454.4(SOD1):c.217G>A:p.Gly73Ser	coding	Pathogenic
21	31666552	A	C	A31666552C	SOD1	NM_000454.4(SOD1):c.239+34A>C	noncoding	Benign
21	31667260	A	G	A31667260G	SOD1	NM_000454.4(SOD1):c.242A>G:p.His81Arg	coding	Pathogenic
21	31667271	T	G	T31667271G	SOD1	NM_000454.4(SOD1):c.253T>G:p.Leu85Val	coding	Pathogenic
21	31667273	G	C	G31667273C	SOD1	NM_000454.5(SOD1):c.255G>C:p.Leu85Phe	coding	Pathogenic
21	31667274	G	A	G31667274A	SOD1	NM_000454.5(SOD1):c.256G>A:p.Gly86Ser	coding	Pathogenic
21	31667274	G	C	G31667274C	SOD1	NM_000454.4(SOD1):c.256G>C:p.Gly86Arg	coding	Pathogenic
21	31667278	A	G	A31667278G	SOD1	NM_000454.4(SOD1):c.260A>G:p.Asn87Ser	coding	Pathogenic/Likely_pathogenic
21	31667298	G	C	G31667298C	SOD1	NM_000454.4(SOD1):c.280G>C:p.Gly94Arg	coding	Pathogenic
21	31667298	G	T	G31667298T	SOD1	NM_000454.4(SOD1):c.280G>T:p.Gly94Cys	coding	Pathogenic
21	31667299	G	C	G31667299C	SOD1	NM_000454.4(SOD1):c.281G>C:p.Gly94Ala	coding	Pathogenic
21	31667319	G	A	G31667319A	SOD1	NM_000454.4(SOD1):c.301G>A:p.Glu101Lys	coding	Pathogenic/Likely_pathogenic
21	31667320	A	G	A31667320G	SOD1	NM_000454.4(SOD1):c.302A>G:p.Glu101Gly	coding	Pathogenic
21	31667331	A	T	A31667331T	SOD1	NM_000454.4(SOD1):c.313A>T:p.Ile105Phe	coding	Pathogenic
21	31667335	C	T	C31667335T	SOD1	NM_000454.5(SOD1):c.317C>T:p.Ser106Leu	coding	Pathogenic
21	31667337	C	G	C31667337G	SOD1	NM_000454.4(SOD1):c.319C>G:p.Leu107Val	coding	Pathogenic
21	31667356	T	C	T31667356C	SOD1	NM_000454.4(SOD1):c.338T>C:p.Ile113Thr	coding	Pathogenic
21	31667359	T	C	T31667359C	SOD1	NM_000454.4(SOD1):c.341T>C:p.Ile114Thr	coding	Pathogenic
21	31667364	C	G	C31667364G	SOD1	NM_000454.5(SOD1):c.346C>G:p.Arg116Gly	coding	Pathogenic
21	31667384	T	C	T31667384C	SOD1	NM_000454.4(SOD1):c.357+9T>C	noncoding	Benign
21	31668460	A	G	A31668460G	SOD1	NM_000454.4(SOD1):c.358-11A>G	noncoding	Pathogenic
21	31668461	T	G	T31668461G	SOD1	NM_000454.4(SOD1):c.358-10T>G	noncoding	Pathogenic
21	31668493	T	A	T31668493A	SOD1	NM_000454.4(SOD1):c.380T>A:p.Leu127Ter	coding	Pathogenic
21	31668517	G	A	G31668517A	SOD1	NM_000454.4(SOD1):c.404G>A:p.Ser135Asn	coding	Pathogenic
21	31668533	C	A	C31668533A	SOD1	NM_000454.4(SOD1):c.420C>A:p.Asn140Lys	coding	Pathogenic
21	31668536	T	A	T31668536A	SOD1	NM_000454.4(SOD1):c.423T>A:p.Ala141=	coding	Benign/Likely_benign
21	31668547	T	C	T31668547C	SOD1	NM_000454.4(SOD1):c.434T>C:p.Leu145Ser	coding	Pathogenic
21	31668548	G	C	G31668548C	SOD1	NM_000454.4(SOD1):c.435G>C:p.Leu145Phe	coding	Pathogenic
21	31668548	G	T	G31668548T	SOD1	NM_000454.5(SOD1):c.435G>T:p.Leu145Phe	coding	Pathogenic
21	31668549	G	A	G31668549A	SOD1	NM_000454.4(SOD1):c.436G>A:p.Ala146Thr	coding	Pathogenic
21	31668568	T	C	T31668568C	SOD1	NM_000454.4(SOD1):c.455T>C:p.Ile152Thr	coding	Pathogenic
21	31668580	C	T	C31668580T	SOD1	NM_000454.4(SOD1):c.*2C>T	noncoding	Benign/Likely_benign
21	31668895	T	C	T31668895C	SOD1	NM_000454.5(SOD1):c.*317T>C	noncoding	Benign
21	31668917	C	T	C31668917T	SOD1	NM_000454.4(SOD1):c.*339C>T	noncoding	Benign
21	31701805	G	A	G31701805A	SCAF4	NM_020706.2(SCAF4):c.571C>T:p.Gln191Ter	coding	Pathogenic
21	32270478	C	T	C32270478T	MIS18A	NM_018944.3(MIS18A):c.453G>A:p.Val151=	coding	Benign
21	32270481	G	A	G32270481A	MIS18A	NM_018944.3(MIS18A):c.450C>T:p.Tyr150=	coding	Benign
21	32293013	A	G	A32293013G	MRAP	NM_206898.1(MRAP):c.-130A>G	noncoding	Benign
21	32293123	G	C	G32293123C	MRAP	NM_206898.1(MRAP):c.-20G>C	noncoding	Benign
21	32298972	A	G	A32298972G	MRAP	NM_001285394.2(MRAP):c.-72+5840A>G	coding	Pathogenic
21	32298974	G	A	G32298974A	MRAP	NM_001285394.2(MRAP):c.-72+5842G>A	coding	Pathogenic
21	32299078	G	A	G32299078A	MRAP	NM_206898.1(MRAP):c.106+1G>A	coding	Pathogenic
21	32299078	G	C	G32299078C	MRAP	NM_206898.1(MRAP):c.106+1G>C	coding	Pathogenic
21	32299078	G	T	G32299078T	MRAP	NM_206898.1(MRAP):c.106+1G>T	coding	Pathogenic
21	32306665	G	T	G32306665T	MRAP	NM_206898.1(MRAP):c.132G>T:p.Val44=	coding	Benign
21	32306681	G	A	G32306681A	MRAP	NM_206898.1(MRAP):c.148G>A:p.Val50Met	coding	Benign/Likely_benign
21	32306722	C	T	C32306722T	MRAP	NM_206898.1(MRAP):c.189C>T:p.Ser63=	coding	Benign
21	32311711	C	G	C32311711G	MRAP	NM_014825.3(URB1):c.*3207G>C	coding	Benign
21	32311866	C	T	C32311866T	MRAP	NM_014825.3(URB1):c.*3052G>A	coding	Benign
21	32311867	C	G	C32311867G	MRAP	NM_014825.3(URB1):c.*3051G>C	coding	Benign
21	32312104	A	G	A32312104G	MRAP	NM_014825.3(URB1):c.*2814T>C	coding	Benign
21	32316888	G	C	G32316888C	URB1	NM_014825.3(URB1):c.6212C>G:p.Pro2071Arg	coding	Benign
21	32319217	C	T	C32319217T	URB1	NM_014825.3(URB1):c.5792G>A:p.Arg1931Lys	coding	Benign
21	32334292	C	T	C32334292T	URB1	NM_014825.3(URB1):c.4728G>A:p.Thr1576=	coding	Benign
21	32338744	C	T	C32338744T	URB1	NM_014825.3(URB1):c.4473G>A:p.Thr1491=	coding	Benign
21	32338768	C	T	C32338768T	URB1	NM_014825.3(URB1):c.4449G>A:p.Ser1483=	coding	Benign
21	32347392	G	A	G32347392A	URB1	NM_014825.3(URB1):c.3432C>T:p.Pro1144=	coding	Benign
21	32363296	A	T	A32363296T	URB1	NM_014825.3(URB1):c.1369T>A:p.Ser457Thr	coding	Benign
21	32495163	C	T	C32495163T	EVA1C	NM_058187.5(EVA1C):c.771C>T:p.Tyr257=	coding	Benign
21	32514809	T	C	T32514809C	EVA1C	NM_058187.5(EVA1C):c.950-5T>C	noncoding	Benign
21	32515045	G	T	G32515045T	EVA1C	NM_058187.5(EVA1C):c.1181G>T:p.Cys394Phe	coding	Benign
21	32515173	A	G	A32515173G	EVA1C	NM_058187.5(EVA1C):c.1309A>G:p.Met437Val	coding	Benign
21	32602266	T	C	T32602266C	CFAP298	NM_021254.4(CFAP298):c.762+6A>G	noncoding	Benign
21	32602299	G	C	G32602299C	CFAP298	NM_021254.4(CFAP298):c.735C>G:p.Tyr245Ter	coding	Pathogenic
21	32602313	G	A	G32602313A	CFAP298	NM_021254.4(CFAP298):c.721C>T:p.Gln241Ter	coding	Pathogenic
21	32602346	G	A	G32602346A	CFAP298	NM_021254.4(CFAP298):c.688C>T:p.Arg230Ter	coding	Pathogenic
21	32603197	C	T	C32603197T	CFAP298	NM_021254.4(CFAP298):c.630G>A:p.Lys210=	coding	Benign
21	32603205	C	T	C32603205T	CFAP298	NM_021254.4(CFAP298):c.622G>A:p.Val208Met	coding	Benign
21	32609853	G	A	G32609853A	CFAP298	NM_021254.4(CFAP298):c.292C>T:p.Arg98Ter	coding	Pathogenic
21	32609875	C	T	C32609875T	CFAP298	NM_021254.4(CFAP298):c.270G>A:p.Val90=	coding	Benign
21	32612167	T	G	T32612167G	CFAP298	NM_021254.4(CFAP298):c.77A>C:p.Glu26Ala	coding	Benign
21	32631073	G	A	G32631073A	SYNJ1	NM_203446.3(SYNJ1):c.*732C>T	coding	Benign
21	32631194	G	A	G32631194A	SYNJ1	NM_003895.3(SYNJ1):c.4640C>T:p.Pro1547Leu	coding	Benign
21	32631476	C	T	C32631476T	SYNJ1	NM_003895.3(SYNJ1):c.4358G>A:p.Gly1453Glu	coding	Benign
21	32631490	C	T	C32631490T	SYNJ1	NM_003895.3(SYNJ1):c.4344G>A:p.Arg1448=	coding	Benign
21	32638903	C	A	C32638903A	SYNJ1	NM_003895.3(SYNJ1):c.4032+5G>T	noncoding	Benign
21	32639102	G	A	G32639102A	SYNJ1	NM_003895.3(SYNJ1):c.3838C>T:p.Leu1280=	coding	Benign
21	32641973	C	A	C32641973A	SYNJ1	NM_003895.3(SYNJ1):c.3635-7G>T	noncoding	Benign
21	32645668	T	C	T32645668C	SYNJ1	NM_003895.3(SYNJ1):c.3486A>G:p.Pro1162=	coding	Benign/Likely_benign
21	32645791	T	C	T32645791C	SYNJ1	NM_003895.3(SYNJ1):c.3365-2A>G	noncoding	Pathogenic
21	32646432	G	A	G32646432A	SYNJ1	NM_203446.3(SYNJ1):c.3208C>T:p.Arg1070Ter	coding	Pathogenic
21	32650278	C	A	C32650278A	SYNJ1	NM_003895.3(SYNJ1):c.3060G>T:p.Met1020Ile	coding	Benign
21	32656791	C	T	C32656791T	SYNJ1	NM_203446.3(SYNJ1):c.2691G>A:p.Leu897=	coding	Benign
21	32657036	T	C	T32657036C	SYNJ1	NM_003895.3(SYNJ1):c.2663A>G:p.Tyr888Cys	coding	Pathogenic
21	32657766	C	T	C32657766T	SYNJ1	NM_003895.3(SYNJ1):c.2528G>A:p.Trp843Ter	coding	Pathogenic
21	32664991	A	T	A32664991T	SYNJ1	NM_003895.3(SYNJ1):c.2343T>A:p.Val781=	coding	Benign
21	32666471	C	T	C32666471T	SYNJ1	NM_003895.3(SYNJ1):c.2031G>A:p.Leu677=	coding	Benign
21	32673520	C	T	C32673520T	SYNJ1	NM_003895.3(SYNJ1):c.1663G>A:p.Val555Ile	coding	Benign
21	32681590	C	G	C32681590G	SYNJ1	NM_003895.3(SYNJ1):c.1376G>C:p.Arg459Pro	coding	Pathogenic
21	32684127	C	A	C32684127A	SYNJ1	NM_003895.3(SYNJ1):c.1236-8G>T	noncoding	Benign
21	32685785	A	T	A32685785T	SYNJ1	NM_203446.3(SYNJ1):c.1081T>A:p.Tyr361Asn	coding	Benign
21	32687042	T	C	T32687042C	SYNJ1	NM_003895.3(SYNJ1):c.1001A>G:p.Lys334Arg	coding	Benign
21	32695050	T	C	T32695050C	SYNJ1	NM_003895.3(SYNJ1):c.822+7A>G	noncoding	Benign
21	32695106	C	T	C32695106T	SYNJ1	NM_203446.2(SYNJ1):c.773G>A:p.Arg258Gln	coding	Pathogenic
21	32695189	T	C	T32695189C	SYNJ1	NM_003895.3(SYNJ1):c.690A>G:p.Thr230=	coding	Benign
21	32699829	T	C	T32699829C	SYNJ1	NM_003895.3(SYNJ1):c.596+9A>G	noncoding	Benign
21	32699922	C	T	C32699922T	SYNJ1	NM_203446.2(SYNJ1):c.512G>A:p.Trp171Ter	coding	Pathogenic
21	32726853	G	A	G32726853A	SYNJ1	NM_003895.3(SYNJ1):c.160C>T:p.Pro54Ser	coding	Benign/Likely_benign
21	32726890	C	T	C32726890T	SYNJ1	NM_003895.3(SYNJ1):c.123G>A:p.Ala41=	coding	Benign/Likely_benign
21	32728017	C	T	C32728017T	SYNJ1	NM_003895.3(SYNJ1):c.24G>A:p.Trp8Ter	coding	Pathogenic
21	32744819	T	G	T32744819G	PAXBP1	NM_016631.4(PAXBP1):c.2163A>C:p.Val721=	coding	Benign
21	33252732	C	G	C33252732G	IFNAR2	NM_001289125.3(IFNAR2):c.611C>G:p.Thr204Arg	coding	Benign
21	33262573	G	A	G33262573A	IL10RB	NM_001289125.3(IFNAR2):c.841-220G>A	coding	Benign
21	33263398	C	T	C33263398T	IFNAR2	NM_001289125.3(IFNAR2):c.1446C>T:p.Pro482=	coding	Benign
21	33268464	G	A	G33268464A	IL10RB	NM_000628.5(IL10RB):c.120G>A:p.Trp40Ter	coding	Pathogenic
21	33268483	A	G	A33268483G	IL10RB	NM_000628.5(IL10RB):c.139A>G:p.Lys47Glu	coding	Benign
21	33279841	G	T	G33279841T	IL10RB	NM_000628.5(IL10RB):c.421G>T:p.Glu141Ter	coding	Pathogenic
21	33279885	T	C	T33279885C	IL10RB	NM_000628.5(IL10RB):c.465T>C:p.Asn155=	coding	Benign
21	33279896	G	A	G33279896A	IL10RB	NM_000628.5(IL10RB):c.476G>A:p.Trp159Ter	coding	Pathogenic
21	33279897	G	A	G33279897A	IL10RB	NM_000628.5(IL10RB):c.477G>A:p.Trp159Ter	coding	Pathogenic
21	33279903	C	T	C33279903T	IL10RB	NM_000628.5(IL10RB):c.483C>T:p.Asn161=	coding	Benign
21	33288146	C	A	C33288146A	IL10RB	NM_000628.5(IL10RB):c.689C>A:p.Ser230Ter	coding	Pathogenic
21	33296442	A	G	A33296442G	IL10RB	NM_000628.5(IL10RB):c.*85A>G	noncoding	Benign
21	33296492	G	A	G33296492A	IL10RB	NM_000628.5(IL10RB):c.*135G>A	noncoding	Benign
21	33296671	G	A	G33296671A	IL10RB	NM_000628.5(IL10RB):c.*314G>A	noncoding	Benign
21	33296691	G	A	G33296691A	IL10RB	NM_000628.5(IL10RB):c.*334G>A	noncoding	Benign
21	33297076	G	A	G33297076A	IL10RB	NM_000628.5(IL10RB):c.*719G>A	noncoding	Benign
21	33335636	C	T	C33335636T	IFNAR1	NM_000629.3(IFNAR1):c.189C>T:p.Phe63=	coding	Benign
21	33341011	T	C	T33341011C	IFNAR1	NM_000629.3(IFNAR1):c.213T>C:p.Asp71=	coding	Benign
21	33349169	C	A	C33349169A	IFNAR1	NM_000629.3(IFNAR1):c.867C>A:p.Thr289=	coding	Benign
21	33353714	G	A	G33353714A	IFNAR1	NM_000629.3(IFNAR1):c.1371G>A:p.Ala457=	coding	Benign
21	33414987	C	G	C33414987G	IFNGR2	NM_005534.3(IFNGR2):c.173C>G:p.Thr58Arg	coding	Benign
21	33421507	C	T	C33421507T	IFNGR2	NM_005534.3(IFNGR2):c.234C>T:p.Asp78=	coding	Benign
21	33426910	G	A	G33426910A	IFNGR2	NM_005534.3(IFNGR2):c.439G>A:p.Glu147Lys	coding	Benign
21	33426937	A	C	A33426937C	IFNGR2	NM_005534.3(IFNGR2):c.466A>C:p.Ile156Leu	coding	Benign/Likely_benign
21	33426974	C	A	C33426974A	IFNGR2	NM_005534.3(IFNGR2):c.503C>A:p.Thr168Asn	coding	Pathogenic
21	33427015	A	G	A33427015G	IFNGR2	NM_005534.3(IFNGR2):c.544A>G:p.Lys182Glu	coding	Benign/Likely_benign
21	33427043	C	G	C33427043G	IFNGR2	NM_005534.4(IFNGR2):c.561+11C>G	noncoding	Benign
21	33432343	T	C	T33432343C	IFNGR2	NM_005534.3(IFNGR2):c.721+7T>C	noncoding	Benign
21	33436926	G	A	G33436926A	IFNGR2	NM_005534.3(IFNGR2):c.978G>A:p.Pro326=	coding	Benign/Likely_benign
21	33436932	G	A	G33436932A	IFNGR2	NM_005534.3(IFNGR2):c.984G>A:p.Lys328=	coding	Benign
21	33546246	A	G	A33546246G	SON	NM_032195.2(SON):c.111A>G:p.Thr37=	coding	Benign
21	33549634	G	T	G33549634T	SON	NM_032195.2(SON):c.403G>T:p.Glu135Ter	coding	Pathogenic
21	33549729	G	T	G33549729T	SON	NM_032195.2(SON):c.498G>T:p.Ala166=	coding	Benign
21	33549888	A	G	A33549888G	SON	NM_032195.2(SON):c.657A>G:p.Thr219=	coding	Benign
21	33550019	T	C	T33550019C	SON	NM_032195.2(SON):c.788T>C:p.Val263Ala	coding	Benign
21	33550186	G	C	G33550186C	SON	NM_032195.2(SON):c.955G>C:p.Glu319Gln	coding	Benign
21	33550238	C	T	C33550238T	SON	NM_032195.2(SON):c.1007C>T:p.Ala336Val	coding	Benign
21	33550367	C	A	C33550367A	SON	NM_032195.2(SON):c.1136C>A:p.Ser379Ter	coding	Pathogenic
21	33550895	C	T	C33550895T	SON	NM_032195.2(SON):c.1664C>T:p.Thr555Met	coding	Benign
21	33550901	C	T	C33550901T	SON	NM_032195.2(SON):c.1670C>T:p.Ala557Val	coding	Benign
21	33550960	T	C	T33550960C	SON	NM_032195.2(SON):c.1729T>C:p.Ser577Pro	coding	Benign
21	33551311	A	G	A33551311G	SON	NM_032195.2(SON):c.2080A>G:p.Thr694Ala	coding	Benign
21	33551475	C	G	C33551475G	SON	NM_032195.2(SON):c.2244C>G:p.Ser748=	coding	Benign
21	33551502	G	A	G33551502A	SON	NM_032195.2(SON):c.2271G>A:p.Ala757=	coding	Benign
21	33551595	T	C	T33551595C	SON	NM_032195.2(SON):c.2364T>C:p.Thr788=	coding	Benign
21	33551628	T	C	T33551628C	SON	NM_032195.2(SON):c.2397T>C:p.Ser799=	coding	Benign
21	33551781	C	A	C33551781A	SON	NM_032195.2(SON):c.2550C>A:p.Thr850=	coding	Benign
21	33551881	C	T	C33551881T	SON	NM_138927.4(SON):c.2650C>T:p.Gln884Ter	coding	Pathogenic
21	33551892	G	A	G33551892A	SON	NM_032195.2(SON):c.2661G>A:p.Ala887=	coding	Benign
21	33551922	G	A	G33551922A	SON	NM_032195.2(SON):c.2691G>A:p.Ala897=	coding	Benign
21	33551951	G	A	G33551951A	SON	NM_032195.2(SON):c.2720G>A:p.Gly907Asp	coding	Benign
21	33552045	T	G	T33552045G	SON	NM_032195.2(SON):c.2814T>G:p.Gly938=	coding	Benign
21	33552243	T	C	T33552243C	SON	NM_032195.2(SON):c.3012T>C:p.Ala1004=	coding	Benign
21	33552565	C	T	C33552565T	SON	NM_138927.3(SON):c.3334C>T:p.Arg1112Ter	coding	Pathogenic
21	33552627	C	A	C33552627A	SON	NM_032195.2(SON):c.3396C>A:p.Tyr1132Ter	coding	Pathogenic
21	33552678	G	A	G33552678A	SON	NM_032195.2(SON):c.3447G>A:p.Leu1149=	coding	Benign
21	33552730	A	G	A33552730G	SON	NM_032195.2(SON):c.3499A>G:p.Met1167Val	coding	Benign
21	33552787	C	T	C33552787T	SON	NM_138927.3(SON):c.3556C>T:p.Gln1186Ter	coding	Pathogenic
21	33552957	A	G	A33552957G	SON	NM_032195.2(SON):c.3726A>G:p.Ser1242=	coding	Benign
21	33553139	C	T	C33553139T	SON	NM_032195.2(SON):c.3908C>T:p.Pro1303Leu	coding	Benign
21	33553353	T	C	T33553353C	SON	NM_032195.2(SON):c.4122T>C:p.Thr1374=	coding	Benign
21	33553407	G	A	G33553407A	SON	NM_032195.2(SON):c.4176G>A:p.Pro1392=	coding	Benign
21	33553630	A	G	A33553630G	SON	NM_032195.2(SON):c.4399A>G:p.Ile1467Val	coding	Benign
21	33553674	A	G	A33553674G	SON	NM_032195.2(SON):c.4443A>G:p.Ser1481=	coding	Benign
21	33553694	A	G	A33553694G	SON	NM_032195.2(SON):c.4463A>G:p.Asn1488Ser	coding	Benign
21	33553785	C	T	C33553785T	SON	NM_032195.2(SON):c.4554C>T:p.His1518=	coding	Benign
21	33553814	A	G	A33553814G	SON	NM_032195.2(SON):c.4583A>G:p.His1528Arg	coding	Benign
21	33553824	T	C	T33553824C	SON	NM_032195.2(SON):c.4593T>C:p.Asn1531=	coding	Benign
21	33554082	A	G	A33554082G	SON	NM_032195.2(SON):c.4851A>G:p.Ala1617=	coding	Benign
21	33554269	G	T	G33554269T	SON	NM_138927.3(SON):c.5038G>T:p.Glu1680Ter	coding	Pathogenic
21	33554442	A	G	A33554442G	SON	NM_032195.2(SON):c.5211A>G:p.Leu1737=	coding	Benign
21	33554511	T	C	T33554511C	SON	NM_032195.2(SON):c.5280T>C:p.Asp1760=	coding	Benign
21	33554704	C	T	C33554704T	SON	NM_032195.2(SON):c.5473C>T:p.Arg1825Ter	coding	Pathogenic
21	33554985	T	C	T33554985C	SON	NM_032195.2(SON):c.5754T>C:p.Val1918=	coding	Benign
21	33554998	C	T	C33554998T	SON	NM_032195.2(SON):c.5767C>T:p.Arg1923Ter	coding	Pathogenic
21	33555253	C	T	C33555253T	SON	NM_032195.2(SON):c.6022C>T:p.Arg2008Ter	coding	Pathogenic
21	33557317	G	A	G33557317A	SON	NM_138927.4(SON):c.6321+1G>A	coding	Pathogenic
21	33573342	G	A	G33573342A	SON	NM_138927.4(SON):c.6920G>A:p.Gly2307Glu	coding	Pathogenic
21	33579349	C	A	C33579349A	DONSON	NM_017613.4(DONSON):c.1563+1G>T	noncoding	Pathogenic
21	33579447	T	C	T33579447C	DONSON	NM_017613.4(DONSON):c.1466A>G:p.Lys489Arg	coding	Benign
21	33579542	C	T	C33579542T	DONSON	NM_017613.4(DONSON):c.1371G>A:p.Lys457=	coding	Benign
21	33581315	A	G	A33581315G	DONSON	NM_017613.4(DONSON):c.1337T>C:p.Met446Thr	coding	Pathogenic
21	33581370	G	A	G33581370A	DONSON	NM_017613.4(DONSON):c.1282C>T:p.Gln428Ter	coding	Pathogenic
21	33582064	T	C	T33582064C	DONSON	NM_017613.4(DONSON):c.1047-9A>G	noncoding	Pathogenic
21	33583576	G	C	G33583576C	DONSON	NM_017613.4(DONSON):c.876C>G:p.Phe292Leu	coding	Pathogenic
21	33584692	C	T	C33584692T	DONSON	NM_017613.4(DONSON):c.683G>A:p.Trp228Ter	coding	Pathogenic
21	33750246	T	C	T33750246C	ITSN1	NM_003024.3(ITSN1):c.450T>C:p.Val150=	coding	Benign
21	33765870	A	G	A33765870G	ITSN1	NM_003024.3(ITSN1):c.789-5A>G	noncoding	Benign
21	33767703	G	A	G33767703A	ITSN1	NM_003024.3(ITSN1):c.927-10G>A	noncoding	Benign
21	33775078	C	T	C33775078T	ITSN1	NM_003024.3(ITSN1):c.1566C>T:p.Ala522=	coding	Benign
21	33834431	A	C	A33834431C	ITSN1	NM_003024.3(ITSN1):c.3469+7A>C	noncoding	Benign
21	33914447	T	C	T33914447C	ATP5PO	NM_001697.3(ATP5PO):c.87+3A>G	noncoding	Pathogenic
21	34363867	G	A	G34363867A	KCNE2	NM_172201.1(KCNE2):c.-297G>A	noncoding	Benign
21	34364085	G	A	G34364085A	KCNE2	NM_172201.1(KCNE2):c.-79G>A	noncoding	Benign/Likely_benign
21	34364134	T	C	T34364134C	KCNE2	NM_172201.1(KCNE2):c.-30T>C	noncoding	Benign
21	34370451	A	G	A34370451G	KCNE2	NM_172201.1(KCNE2):c.-12-16A>G	noncoding	Benign
21	34370503	C	G	C34370503G	KCNE2	NM_172201.1(KCNE2):c.25C>G:p.Gln9Glu	coding	Benign/Likely_benign
21	34370656	T	C	T34370656C	KCNE2	NM_172201.1(KCNE2):c.178T>C:p.Phe60Leu	coding	Pathogenic
21	34370739	C	T	C34370739T	KCNE2	NM_172201.1(KCNE2):c.261C>T:p.Tyr87=	coding	Benign
21	34446716	G	A	G34446716A	KCNE1	NM_000219.6(KCNE1):c.*2529C>T	noncoding	Benign
21	34446765	T	C	T34446765C	KCNE1	NM_000219.6(KCNE1):c.*2480A>G	noncoding	Benign
21	34446784	T	C	T34446784C	KCNE1	NM_000219.6(KCNE1):c.*2461A>G	noncoding	Benign/Likely_benign
21	34447122	C	T	C34447122T	KCNE1	NM_000219.6(KCNE1):c.*2123G>A	noncoding	Benign
21	34447142	G	A	G34447142A	KCNE1	NM_000219.6(KCNE1):c.*2103C>T	noncoding	Benign/Likely_benign
21	34447147	A	G	A34447147G	KCNE1	NM_000219.6(KCNE1):c.*2098T>C	noncoding	Benign/Likely_benign
21	34447430	T	C	T34447430C	KCNE1	NM_000219.6(KCNE1):c.*1815A>G	noncoding	Benign/Likely_benign
21	34447923	T	C	T34447923C	KCNE1	NM_000219.6(KCNE1):c.*1322A>G	noncoding	Benign
21	34448026	T	C	T34448026C	KCNE1	NM_000219.6(KCNE1):c.*1219A>G	noncoding	Benign
21	34448177	T	G	T34448177G	KCNE1	NM_000219.6(KCNE1):c.*1068A>C	noncoding	Benign
21	34448667	A	G	A34448667G	KCNE1	NM_000219.6(KCNE1):c.*578T>C	noncoding	Benign
21	34448755	C	G	C34448755G	KCNE1	NM_000219.6(KCNE1):c.*490G>C	noncoding	Benign
21	34448789	G	A	G34448789A	KCNE1	NM_000219.6(KCNE1):c.*456C>T	noncoding	Benign
21	34448977	G	A	G34448977A	KCNE1	NM_000219.6(KCNE1):c.*268C>T	noncoding	Benign/Likely_benign
21	34449113	T	C	T34449113C	KCNE1	NM_000219.6(KCNE1):c.*132A>G	noncoding	Benign
21	34449121	T	C	T34449121C	KCNE1	NM_000219.6(KCNE1):c.*124A>G	noncoding	Benign
21	34449320	C	T	C34449320T	KCNE1	NM_000219.6(KCNE1):c.315G>A:p.Ser105=	coding	Benign/Likely_benign
21	34449373	G	A	G34449373A	KCNE1	NM_000219.6(KCNE1):c.262C>T:p.Gln88Ter	coding	Pathogenic
21	34449473	G	A	G34449473A	KCNE1	NM_000219.6(KCNE1):c.162C>T:p.Phe54=	coding	Benign/Likely_benign
21	34449496	C	T	C34449496T	KCNE1	NM_000219.6(KCNE1):c.139G>A:p.Val47Ile	coding	Benign
21	34449497	G	T	G34449497T	KCNE1	NM_000219.6(KCNE1):c.138C>A:p.Tyr46Ter	coding	Pathogenic
21	34449523	T	C	T34449523C	KCNE1	NM_000219.6(KCNE1):c.112A>G:p.Ser38Gly	coding	Benign
21	34449551	C	T	C34449551T	KCNE1	NM_000219.6(KCNE1):c.84G>A:p.Ser28=	coding	Benign/Likely_benign
21	34449584	C	T	C34449584T	KCNE1	NM_000219.6(KCNE1):c.51G>A:p.Trp17Ter	coding	Pathogenic
21	34449585	C	T	C34449585T	KCNE1	NM_000219.6(KCNE1):c.50G>A:p.Trp17Ter	coding	Pathogenic
21	34449605	C	T	C34449605T	KCNE1	NM_000219.6(KCNE1):c.30G>A:p.Thr10=	coding	Benign/Likely_benign
21	34449611	C	T	C34449611T	KCNE1	NM_000219.6(KCNE1):c.24G>A:p.Ala8=	coding	Benign/Likely_benign
21	34449615	G	A	G34449615A	KCNE1	NM_000219.6(KCNE1):c.20C>T:p.Thr7Ile	coding	Pathogenic
21	34449813	A	G	A34449813G	KCNE1	NM_000219.6(KCNE1):c.-50-129T>C	noncoding	Benign
21	34449972	T	C	T34449972C	KCNE1	NM_000219.6(KCNE1):c.-50-288A>G	noncoding	Benign
21	34458703	A	G	A34458703G	KCNE1	NM_000219.6(KCNE1):c.-100T>C	noncoding	Benign/Likely_benign
21	34459517	A	C	A34459517C	KCNE1	NM_000219.6(KCNE1):c.-161-753T>G	noncoding	Benign
21	34511137	G	A	G34511137A	KCNE1	NM_000219.6(KCNE1):c.-198C>T	noncoding	Benign
21	34511191	C	T	C34511191T	KCNE1	NM_000219.6(KCNE1):c.-252G>A	noncoding	Benign
21	34511192	T	C	T34511192C	KCNE1	NM_000219.6(KCNE1):c.-253A>G	noncoding	Benign/Likely_benign
21	34511314	T	C	T34511314C	KCNE1	NM_000219.6(KCNE1):c.-375A>G	noncoding	Benign/Likely_benign
21	34512114	C	T	C34512114T	KCNE1	NM_000219.6(KCNE1):c.-464G>A	noncoding	Benign
21	34512227	G	A	G34512227A	KCNE1	NM_000219.5(KCNE1):c.-577C>T	noncoding	Benign
21	34669926	G	T	G34669926T	CLIC6	NM_053277.3(CLIC6):c.538G>T:p.Val180Leu	coding	Benign
21	34670509	G	T	G34670509T	CLIC6	NM_053277.3(CLIC6):c.1121G>T:p.Arg374Leu	coding	Benign
21	34670695	G	C	G34670695C	CLIC6	NM_053277.3(CLIC6):c.1307G>C:p.Arg436Pro	coding	Benign
21	34670702	C	A	C34670702A	CLIC6	NM_053277.3(CLIC6):c.1314C>A:p.Asp438Glu	coding	Benign
21	34708739	C	T	C34708739T	CLIC6	NM_053277.3(CLIC6):c.1650C>T:p.Ser550=	coding	Benign
21	34709487	C	T	C34709487T	CLIC6	NM_053277.3(CLIC6):c.1848C>T:p.Asp616=	coding	Benign
21	34716340	G	A	G34716340A	CLIC6	NM_053277.3(CLIC6):c.1919G>A:p.Arg640Lys	coding	Benign
21	34716372	A	G	A34716372G	CLIC6	NM_053277.3(CLIC6):c.1951A>G:p.Ile651Val	coding	Benign
21	34716422	G	A	G34716422A	CLIC6	NM_053277.3(CLIC6):c.2001G>A:p.Thr667=	coding	Benign
21	34787885	G	A	G34787885A	RUNX1	NM_001754.4(RUNX1):c.*4250C>T	noncoding	Benign
21	34787897	C	A	C34787897A	RUNX1	NM_001754.4(RUNX1):c.*4238G>T	noncoding	Benign
21	34787995	G	A	G34787995A	RUNX1	NM_001754.4(RUNX1):c.*4140C>T	noncoding	Benign
21	34788103	A	G	A34788103G	RUNX1	NM_001754.4(RUNX1):c.*4032T>C	noncoding	Benign
21	34788158	C	T	C34788158T	RUNX1	NM_001754.4(RUNX1):c.*3977G>A	noncoding	Benign
21	34788414	T	A	T34788414A	RUNX1	NM_001754.4(RUNX1):c.*3721A>T	noncoding	Benign
21	34788516	T	C	T34788516C	RUNX1	NM_001754.4(RUNX1):c.*3619A>G	noncoding	Benign
21	34788553	C	T	C34788553T	RUNX1	NM_001754.5(RUNX1):c.*3582G>A	noncoding	Benign
21	34788561	T	C	T34788561C	RUNX1	NM_001754.4(RUNX1):c.*3574A>G	noncoding	Benign
21	34788691	T	C	T34788691C	RUNX1	NM_001754.4(RUNX1):c.*3444A>G	noncoding	Benign
21	34788755	T	C	T34788755C	RUNX1	NM_001754.4(RUNX1):c.*3380A>G	noncoding	Benign
21	34788790	T	A	T34788790A	RUNX1	NM_001754.4(RUNX1):c.*3345A>T	noncoding	Benign
21	34789045	T	C	T34789045C	RUNX1	NM_001754.5(RUNX1):c.*3090A>G	noncoding	Benign
21	34789075	A	G	A34789075G	RUNX1	NM_001754.4(RUNX1):c.*3060T>C	noncoding	Benign
21	34789249	A	G	A34789249G	RUNX1	NM_001754.4(RUNX1):c.*2886T>C	noncoding	Benign
21	34789365	G	C	G34789365C	RUNX1	NM_001754.4(RUNX1):c.*2770C>G	noncoding	Benign
21	34789367	T	G	T34789367G	RUNX1	NM_001754.4(RUNX1):c.*2768A>C	noncoding	Benign
21	34789493	T	C	T34789493C	RUNX1	NM_001754.4(RUNX1):c.*2642A>G	noncoding	Benign
21	34789509	T	C	T34789509C	RUNX1	NM_001754.4(RUNX1):c.*2626A>G	noncoding	Benign
21	34789661	A	G	A34789661G	RUNX1	NM_001754.4(RUNX1):c.*2474T>C	noncoding	Benign
21	34789806	T	C	T34789806C	RUNX1	NM_001754.4(RUNX1):c.*2329A>G	noncoding	Benign
21	34789850	T	G	T34789850G	RUNX1	NM_001754.4(RUNX1):c.*2285A>C	noncoding	Benign
21	34790312	T	G	T34790312G	RUNX1	NM_001754.4(RUNX1):c.*1823A>C	noncoding	Benign
21	34790415	G	A	G34790415A	RUNX1	NM_001754.4(RUNX1):c.*1720C>T	noncoding	Benign
21	34790669	C	T	C34790669T	RUNX1	NM_001754.4(RUNX1):c.*1466G>A	noncoding	Benign
21	34790775	G	A	G34790775A	RUNX1	NM_001754.5(RUNX1):c.*1360C>T	noncoding	Benign
21	34790922	G	C	G34790922C	RUNX1	NM_001754.4(RUNX1):c.*1213C>G	noncoding	Benign
21	34790997	G	T	G34790997T	RUNX1	NM_001754.4(RUNX1):c.*1138C>A	noncoding	Benign
21	34791123	G	A	G34791123A	RUNX1	NM_001754.4(RUNX1):c.*1012C>T	noncoding	Benign
21	34791195	C	T	C34791195T	RUNX1	NM_001754.5(RUNX1):c.*940G>A	noncoding	Benign
21	34791216	T	C	T34791216C	RUNX1	NM_001754.4(RUNX1):c.*919A>G	noncoding	Benign
21	34791452	C	A	C34791452A	RUNX1	NM_001754.4(RUNX1):c.*683G>T	noncoding	Benign
21	34791522	T	A	T34791522A	RUNX1	NM_001754.4(RUNX1):c.*613A>T	noncoding	Benign
21	34791566	A	C	A34791566C	RUNX1	NM_001754.5(RUNX1):c.*569T>G	noncoding	Benign
21	34791576	A	G	A34791576G	RUNX1	NM_001754.4(RUNX1):c.*559T>C	noncoding	Benign
21	34791651	A	G	A34791651G	RUNX1	NM_001754.4(RUNX1):c.*484T>C	noncoding	Benign
21	34791706	A	G	A34791706G	RUNX1	NM_001754.4(RUNX1):c.*429T>C	noncoding	Benign
21	34791871	G	A	G34791871A	RUNX1	NM_001754.4(RUNX1):c.*264C>T	noncoding	Benign
21	34792014	C	G	C34792014G	RUNX1	NM_001754.4(RUNX1):c.*121G>C	noncoding	Benign
21	34792022	G	A	G34792022A	RUNX1	NM_001754.4(RUNX1):c.*113C>T	noncoding	Benign
21	34792047	C	A	C34792047A	RUNX1	NM_001754.4(RUNX1):c.*88G>T	noncoding	Benign
21	34792065	A	G	A34792065G	RUNX1	NM_001754.4(RUNX1):c.*70T>C	noncoding	Benign
21	34792091	G	C	G34792091C	RUNX1	NM_001754.4(RUNX1):c.*44C>G	noncoding	Benign/Likely_benign
21	34792108	G	T	G34792108T	RUNX1	NM_001754.4(RUNX1):c.*27C>A	noncoding	Benign
21	34792163	A	G	A34792163G	RUNX1	NM_001754.4(RUNX1):c.1415T>C:p.Leu472Pro	coding	Benign/Likely_benign
21	34792189	G	C	G34792189C	RUNX1	NM_001754.4(RUNX1):c.1389C>G:p.Pro463=	coding	Benign
21	34792223	A	C	A34792223C	RUNX1	NM_001754.4(RUNX1):c.1355T>G:p.Val452Gly	coding	Benign
21	34792309	G	A	G34792309A	RUNX1	NM_001754.4(RUNX1):c.1269C>T:p.Arg423=	coding	Benign
21	34792492	C	G	C34792492G	RUNX1	NM_001754.4(RUNX1):c.1086G>C:p.Ser362=	coding	Benign
21	34792573	C	A	C34792573A	RUNX1	NM_001754.4(RUNX1):c.1005G>T:p.Gln335His	coding	Benign
21	34799310	G	A	G34799310A	RUNX1	NM_001754.4(RUNX1):c.958C>T:p.Arg320Ter	coding	Pathogenic
21	34799316	A	C	A34799316C	RUNX1	NM_001754.4(RUNX1):c.952T>G:p.Ser318Ala	coding	Benign
21	34799341	G	A	G34799341A	RUNX1	NM_001754.4(RUNX1):c.927C>T:p.Gly309=	coding	Benign/Likely_benign
21	34799407	G	T	G34799407T	RUNX1	NM_001754.4(RUNX1):c.861C>A:p.Tyr287Ter	coding	Pathogenic
21	34799444	G	A	G34799444A	RUNX1	NM_001754.4(RUNX1):c.824C>T:p.Pro275Leu	coding	Benign
21	34834536	C	A	C34834536A	RUNX1	NM_001001890.3(RUNX1):c.598G>T:p.Glu200Ter	coding	Pathogenic
21	34834567	G	A	G34834567A	RUNX1	NM_001754.4(RUNX1):c.648C>T:p.Pro216=	coding	Benign/Likely_benign
21	34834635	G	A	G34834635A	RUNX1	NM_001754.4(RUNX1):c.614-34C>T	noncoding	Benign
21	34859466	G	A	G34859466A	RUNX1	NM_001754.4(RUNX1):c.613+8C>T	noncoding	Benign
21	34859476	C	T	C34859476T	RUNX1	NM_001754.4(RUNX1):c.611G>A:p.Arg204Gln	coding	Pathogenic
21	34859477	G	A	G34859477A	RUNX1	NM_001754.4(RUNX1):c.610C>T:p.Arg204Ter	coding	Pathogenic
21	34859485	C	T	C34859485T	RUNX1	NM_001754.4(RUNX1):c.602G>A:p.Arg201Gln	coding	Pathogenic
21	34859486	G	A	G34859486A	RUNX1	NM_001754.4(RUNX1):c.601C>T:p.Arg201Ter	coding	Pathogenic
21	34859520	G	C	G34859520C	RUNX1	NM_001754.4(RUNX1):c.567C>G:p.Tyr189Ter	coding	Pathogenic
21	34859535	C	A	C34859535A	RUNX1	NM_001754.4(RUNX1):c.552G>T:p.Pro184=	coding	Benign/Likely_benign
21	34880568	C	T	C34880568T	RUNX1	NM_001754.4(RUNX1):c.497G>A:p.Arg166Gln	coding	Pathogenic
21	34880573	G	A	G34880573A	RUNX1	NM_001754.4(RUNX1):c.492C>T:p.Val164=	coding	Benign
21	34880665	C	G	C34880665G	RUNX1	NM_001754.4(RUNX1):c.400G>C:p.Ala134Pro	coding	Pathogenic
21	34880672	A	G	A34880672G	RUNX1	NM_001754.4(RUNX1):c.393T>C:p.Thr131=	coding	Benign
21	34880714	C	A	C34880714A	RUNX1	NM_001754.4(RUNX1):c.352-1G>T	coding	Pathogenic
21	34880714	C	T	C34880714T	RUNX1	NM_001754.4(RUNX1):c.352-1G>A	coding	Pathogenic
21	34886828	T	C	T34886828C	RUNX1	NM_001754.4(RUNX1):c.351+15A>G	noncoding	Benign
21	34886842	C	T	C34886842T	RUNX1	NM_001754.4(RUNX1):c.351+1G>A	noncoding	Pathogenic
21	34886852	G	T	G34886852T	RUNX1	NM_001754.4(RUNX1):c.342C>A:p.Ile114=	coding	Benign
21	34886864	C	G	C34886864G	RUNX1	NM_001754.4(RUNX1):c.330G>C:p.Lys110Asn	coding	Pathogenic
21	34886866	T	C	T34886866C	RUNX1	NM_001754.4(RUNX1):c.328A>G:p.Lys110Glu	coding	Pathogenic
21	34886891	C	A	C34886891A	RUNX1	NM_001754.4(RUNX1):c.303G>T:p.Val101=	coding	Benign/Likely_benign
21	34887011	C	T	C34887011T	RUNX1	NM_001754.4(RUNX1):c.183G>A:p.Pro61=	coding	Benign
21	34887027	A	G	A34887027G	RUNX1	NM_001001890.3(RUNX1):c.86T>C:p.Leu29Ser	coding	Benign
21	34887050	G	A	G34887050A	RUNX1	NM_001754.4(RUNX1):c.144C>T:p.Ser48=	coding	Benign
21	34892957	A	T	A34892957T	RUNX1	NM_001754.4(RUNX1):c.65T>A:p.Ile22Lys	coding	Benign
21	35049197	A	G	A35049197G	RUNX1	NM_001754.4(RUNX1):c.-89T>C	noncoding	Benign
21	35049243	C	A	C35049243A	RUNX1	NM_001754.4(RUNX1):c.-135G>T	noncoding	Benign
21	36072639	G	A	G36072639A	CBR1	NM_001757.4(CBR1):c.591G>A:p.Thr197=	coding	Benign
21	36137905	G	A	G36137905A	CBR3	NM_001236.4(CBR3):c.370G>A:p.Glu124Lys	coding	Benign
21	36208786	G	A	G36208786A	DOP1B	NM_001320714.1(DOP1B):c.563G>A:p.Ser188Asn	coding	Benign
21	36212008	C	A	C36212008A	DOP1B	NM_001320714.1(DOP1B):c.815C>A:p.Ser272Tyr	coding	Benign
21	36225611	C	G	C36225611G	DOP1B	NM_001320714.1(DOP1B):c.1417C>G:p.Pro473Ala	coding	Benign
21	36230686	C	T	C36230686T	DOP1B	NM_001320714.1(DOP1B):c.1902C>T:p.Ile634=	coding	Benign
21	36230730	C	T	C36230730T	DOP1B	NM_001320714.1(DOP1B):c.1946C>T:p.Ala649Val	coding	Benign
21	36230962	C	T	C36230962T	DOP1B	NM_001320714.1(DOP1B):c.2178C>T:p.Asn726=	coding	Benign
21	36231128	C	G	C36231128G	DOP1B	NM_001320714.1(DOP1B):c.2344C>G:p.Leu782Val	coding	Benign
21	36239795	C	T	C36239795T	DOP1B	NM_001320714.1(DOP1B):c.2907C>T:p.Ala969=	coding	Benign
21	36239950	C	T	C36239950T	DOP1B	NM_001320714.1(DOP1B):c.3062C>T:p.Ser1021Leu	coding	Benign
21	36246552	G	T	G36246552T	DOP1B	NM_001320714.1(DOP1B):c.4572G>T:p.Thr1524=	coding	Benign
21	36278075	G	A	G36278075A	DOP1B	NM_001320714.1(DOP1B):c.5813G>A:p.Arg1938His	coding	Benign
21	36289168	G	A	G36289168A	DOP1B	NM_001320714.1(DOP1B):c.6477G>A:p.Ala2159=	coding	Benign
21	36369252	A	G	A36369252G	MORC3	NM_015358.3(MORC3):c.1884A>G:p.Ser628=	coding	Benign
21	36413066	C	T	C36413066T	CHAF1B	NM_005441.3(CHAF1B):c.1244C>T:p.Pro415Leu	coding	Benign
21	36413280	G	A	G36413280A	CHAF1B	NM_005441.3(CHAF1B):c.1458G>A:p.Leu486=	coding	Benign
21	36415317	A	C	A36415317C	CHAF1B	NM_005441.3(CHAF1B):c.1516A>C:p.Lys506Gln	coding	Benign
21	36415321	C	T	C36415321T	CHAF1B	NM_005441.3(CHAF1B):c.1520C>T:p.Thr507Met	coding	Benign
21	36461002	C	T	C36461002T	CLDN14	NM_001146079.2(CLDN14):c.694G>A:p.Gly232Arg	coding	Pathogenic/Likely_pathogenic
21	36461009	C	T	C36461009T	CLDN14	NM_001146079.2(CLDN14):c.687G>A:p.Thr229=	coding	Benign
21	36461063	G	A	G36461063A	CLDN14	NM_001146079.2(CLDN14):c.633C>T:p.Tyr211=	coding	Benign
21	36461396	G	A	G36461396A	CLDN14	NM_001146079.2(CLDN14):c.300C>T:p.Ile100=	coding	Benign/Likely_benign
21	36461442	A	T	A36461442T	CLDN14	NM_001146079.2(CLDN14):c.254T>A:p.Val85Asp	coding	Pathogenic
21	36461453	G	A	G36461453A	CLDN14	NM_001146079.2(CLDN14):c.243C>T:p.Arg81=	coding	Benign
21	36461454	C	T	C36461454T	CLDN14	NM_001146079.2(CLDN14):c.242G>A:p.Arg81His	coding	Pathogenic
21	36461529	C	T	C36461529T	CLDN14	NM_001146079.2(CLDN14):c.167G>A:p.Trp56Ter	coding	Pathogenic
21	36461633	C	T	C36461633T	CLDN14	NM_001146079.2(CLDN14):c.63G>A:p.Thr21=	coding	Benign/Likely_benign
21	36461685	G	A	G36461685A	CLDN14	NM_001146079.2(CLDN14):c.11C>T:p.Thr4Met	coding	Benign/Likely_benign
21	36479677	C	G	C36479677G	CLDN14	NM_001146079.2(CLDN14):c.-264G>C	noncoding	Benign
21	36479703	T	C	T36479703C	CLDN14	NM_001146079.2(CLDN14):c.-290A>G	noncoding	Benign
21	36719859	T	C	T36719859C	SIM2	NM_005069.6(SIM2):c.387T>C:p.His129=	coding	Benign
21	36726223	G	A	G36726223A	SIM2	NM_005069.6(SIM2):c.648G>A:p.Ser216=	coding	Benign
21	36744946	G	A	G36744946A	SIM2	NM_005069.6(SIM2):c.1386G>A:p.Pro462=	coding	Benign
21	36751624	C	T	C36751624T	HLCS	NM_000411.8(HLCS):c.*2622G>A	noncoding	Benign
21	36752762	T	C	T36752762C	HLCS	NM_000411.8(HLCS):c.*1484A>G	noncoding	Benign
21	36753040	G	T	G36753040T	HLCS	NM_000411.8(HLCS):c.*1206C>A	noncoding	Benign
21	36753699	G	A	G36753699A	HLCS	NM_000411.8(HLCS):c.*547C>T	noncoding	Benign
21	36753725	G	A	G36753725A	HLCS	NM_000411.8(HLCS):c.*521C>T	noncoding	Benign
21	36753987	A	G	A36753987G	HLCS	NM_000411.8(HLCS):c.*259T>C	noncoding	Benign
21	36754206	T	C	T36754206C	HLCS	NM_000411.8(HLCS):c.*40A>G	noncoding	Benign/Likely_benign
21	36754227	G	A	G36754227A	HLCS	NM_000411.8(HLCS):c.*19C>T	noncoding	Benign/Likely_benign
21	36754285	G	A	G36754285A	HLCS	NM_000411.8(HLCS):c.2142C>T:p.Phe714=	coding	Benign/Likely_benign
21	36754324	G	A	G36754324A	HLCS	NM_000411.8(HLCS):c.2103C>T:p.Gly701=	coding	Benign/Likely_benign
21	36754436	G	A	G36754436A	HLCS	NM_000411.8(HLCS):c.2010-19C>T	noncoding	Benign
21	36756406	G	A	G36756406A	HLCS	NM_000411.8(HLCS):c.2009+136C>T	noncoding	Benign
21	36756546	G	A	G36756546A	HLCS	NM_000411.8(HLCS):c.2005C>T:p.His669Tyr	coding	Pathogenic
21	36756577	G	A	G36756577A	HLCS	NM_000411.8(HLCS):c.1974C>T:p.Ser658=	coding	Benign/Likely_benign
21	36756630	C	T	C36756630T	HLCS	NM_000411.8(HLCS):c.1921G>A:p.Val641Met	coding	Benign/Likely_benign
21	36756631	G	A	G36756631A	HLCS	NM_000411.8(HLCS):c.1920C>T:p.Val640=	coding	Benign
21	36759547	T	C	T36759547C	HLCS	NM_000411.8(HLCS):c.1795+180A>G	noncoding	Benign
21	36759781	C	T	C36759781T	HLCS	NM_000411.8(HLCS):c.1741G>A:p.Gly581Ser	coding	Pathogenic
21	36759829	G	A	G36759829A	HLCS	NM_000411.8(HLCS):c.1693C>T:p.Arg565Ter	coding	Pathogenic
21	36759871	C	T	C36759871T	HLCS	NM_000411.8(HLCS):c.1681-30G>A	noncoding	Benign
21	36765001	A	T	A36765001T	HLCS	NM_000411.8(HLCS):c.1680+11T>A	noncoding	Benign
21	36765020	C	T	C36765020T	HLCS	NM_000411.8(HLCS):c.1672G>A:p.Glu558Lys	coding	Benign/Likely_benign
21	36765044	C	T	C36765044T	HLCS	NM_000411.8(HLCS):c.1648G>A:p.Val550Met	coding	Pathogenic
21	36765068	G	A	G36765068A	HLCS	NM_000411.8(HLCS):c.1624C>T:p.Gln542Ter	coding	Pathogenic
21	36765164	C	T	C36765164T	HLCS	NM_000411.8(HLCS):c.1528G>A:p.Gly510Arg	coding	Benign/Likely_benign
21	36765170	G	A	G36765170A	HLCS	NM_000411.8(HLCS):c.1522C>T:p.Arg508Trp	coding	Pathogenic
21	36767202	A	T	A36767202T	HLCS	NM_000411.8(HLCS):c.1519+16T>A	noncoding	Benign
21	36767213	C	T	C36767213T	HLCS	NM_000411.8(HLCS):c.1519+5G>A	noncoding	Pathogenic/Likely_pathogenic
21	36767291	G	A	G36767291A	HLCS	NM_000411.8(HLCS):c.1452-6C>T	noncoding	Benign/Likely_benign
21	36767331	C	A	C36767331A	HLCS	NM_000411.8(HLCS):c.1452-46G>T	noncoding	Benign
21	36896559	G	A	G36896559A	HLCS	NM_000411.8(HLCS):c.1451+301C>T	noncoding	Benign
21	36930254	C	T	C36930254T	HLCS	NM_000411.8(HLCS):c.1176G>A:p.Ala392=	coding	Benign/Likely_benign
21	36930295	G	A	G36930295A	HLCS	NM_000411.8(HLCS):c.1135C>T:p.Gln379Ter	coding	Pathogenic/Likely_pathogenic
21	36930375	A	T	A36930375T	HLCS	NM_000411.8(HLCS):c.1055T>A:p.Leu352Ter	coding	Pathogenic
21	36930377	G	A	G36930377A	HLCS	NM_000411.8(HLCS):c.1053C>T:p.Asn351=	coding	Benign
21	36930469	C	T	C36930469T	HLCS	NM_000411.8(HLCS):c.997-36G>A	noncoding	Benign
21	36936252	C	T	C36936252T	HLCS	NM_000411.8(HLCS):c.996+197G>A	noncoding	Benign
21	36936474	C	T	C36936474T	HLCS	NM_000411.8(HLCS):c.971G>A:p.Arg324His	coding	Benign
21	36936611	G	A	G36936611A	HLCS	NM_000411.8(HLCS):c.834C>T:p.Ser278=	coding	Benign
21	36936798	A	C	A36936798C	HLCS	NM_000411.8(HLCS):c.647T>G:p.Leu216Arg	coding	Pathogenic/Likely_pathogenic
21	36936841	C	A	C36936841A	HLCS	NM_000411.8(HLCS):c.604G>T:p.Glu202Ter	coding	Pathogenic
21	36936884	G	A	G36936884A	HLCS	NM_000411.8(HLCS):c.561C>T:p.Ala187=	coding	Benign/Likely_benign
21	36936972	G	A	G36936972A	HLCS	NM_000411.8(HLCS):c.473C>T:p.Thr158Met	coding	Benign/Likely_benign
21	36936986	C	T	C36936986T	HLCS	NM_000411.8(HLCS):c.459G>A:p.Arg153=	coding	Benign
21	36937159	C	T	C36937159T	HLCS	NM_000411.8(HLCS):c.286G>A:p.Val96Ile	coding	Benign
21	36937160	G	A	G36937160A	HLCS	NM_000411.8(HLCS):c.285C>T:p.Pro95=	coding	Benign
21	36937195	C	A	C36937195A	HLCS	NM_000411.8(HLCS):c.250G>T:p.Glu84Ter	coding	Pathogenic
21	36937319	C	A	C36937319A	HLCS	NM_000411.8(HLCS):c.126G>T:p.Glu42Asp	coding	Benign
21	36937351	G	A	G36937351A	HLCS	NM_000411.8(HLCS):c.94C>T:p.Gln32Ter	coding	Pathogenic
21	36937405	T	C	T36937405C	HLCS	NM_000411.8(HLCS):c.53-13A>G	noncoding	Benign
21	36946105	C	T	C36946105T	HLCS	NM_000411.8(HLCS):c.-208G>A	noncoding	Benign
21	36946151	G	A	G36946151A	HLCS	NM_000411.8(HLCS):c.-254C>T	noncoding	Benign/Likely_benign
21	36980767	T	C	T36980767C	HLCS	NM_000411.8(HLCS):c.-393+9391A>G	noncoding	Benign
21	36990147	C	A	C36990147A	HLCS	NM_000411.8(HLCS):c.-393+11G>T	noncoding	Benign
21	36990170	A	G	A36990170G	HLCS	NM_000411.8(HLCS):c.-405T>C	noncoding	Benign
21	36990198	G	A	G36990198A	HLCS	NM_000411.8(HLCS):c.-433C>T	noncoding	Benign
21	36990231	T	C	T36990231C	HLCS	NM_000411.7(HLCS):c.-466A>G	noncoding	Benign
21	36990236	T	C	T36990236C	HLCS	NM_000411.7(HLCS):c.-471A>G	noncoding	Benign
21	36990257	T	C	T36990257C	HLCS	NM_000411.7(HLCS):c.-480-12A>G	noncoding	Benign
21	37065618	G	A	G37065618A	PIGP	NM_153681.2(PIGP):c.441C>T:p.Phe147=	coding	Benign
21	37065660	T	G	T37065660G	PIGP	NM_153681.2(PIGP):c.399A>C:p.Pro133=	coding	Benign
21	37065706	T	C	T37065706C	PIGP	NM_153681.2(PIGP):c.353A>G:p.Tyr118Cys	coding	Benign
21	37067340	T	C	T37067340C	PIGP	NM_153681.2(PIGP):c.268A>G:p.Ile90Val	coding	Benign
21	37095344	T	C	T37095344C	TTC3	NM_001001894.2(TTC3):c.688-6T>C	noncoding	Benign
21	37126118	T	C	T37126118C	TTC3	NM_001001894.2(TTC3):c.1272T>C:p.Cys424=	coding	Benign
21	37129055	A	G	A37129055G	TTC3	NM_001001894.2(TTC3):c.1350A>G:p.Glu450=	coding	Benign
21	37144636	A	G	A37144636G	TTC3	NM_001001894.2(TTC3):c.1884A>G:p.Gln628=	coding	Benign
21	37153144	A	G	A37153144G	TTC3	NM_001001894.2(TTC3):c.2607A>G:p.Ala869=	coding	Benign
21	37156668	A	G	A37156668G	TTC3	NM_001001894.2(TTC3):c.2754A>G:p.Thr918=	coding	Benign
21	37166017	A	G	A37166017G	TTC3	NM_001001894.2(TTC3):c.3803A>G:p.Asp1268Gly	coding	Benign
21	37166228	G	T	G37166228T	TTC3	NM_001001894.2(TTC3):c.4014G>T:p.Val1338=	coding	Benign
21	37195683	C	T	C37195683T	TTC3	NM_001001894.2(TTC3):c.5226C>T:p.Pro1742=	coding	Benign
21	37195684	G	A	G37195684A	TTC3	NM_001001894.2(TTC3):c.5227G>A:p.Glu1743Lys	coding	Benign
21	37195951	C	T	C37195951T	TTC3	NM_001001894.2(TTC3):c.5494C>T:p.Arg1832Cys	coding	Benign
21	37197573	T	C	T37197573C	TTC3	NM_001001894.2(TTC3):c.5583T>C:p.Thr1861=	coding	Benign
21	37197706	C	T	C37197706T	TTC3	NM_001001894.2(TTC3):c.5706+10C>T	noncoding	Benign
21	37418854	A	G	A37418854G	DYRK1A	NM_001347721.2(DYRK1A):c.-76-1445A>G	noncoding	Benign
21	37420359	G	A	G37420359A	DYRK1A	NM_001347721.2(DYRK1A):c.-16G>A	noncoding	Benign
21	37472458	T	A	T37472458A	DYRK1A	NM_001347721.2(DYRK1A):c.11-226T>A	noncoding	Benign
21	37472761	A	G	A37472761G	DYRK1A	NM_001347721.2(DYRK1A):c.88A>G:p.Met30Val	coding	Benign
21	37472824	C	T	C37472824T	DYRK1A	NM_001347721.2(DYRK1A):c.151C>T:p.Gln51Ter	coding	Pathogenic
21	37472860	C	T	C37472860T	DYRK1A	NM_001347721.2(DYRK1A):c.187C>T:p.Gln63Ter	coding	Pathogenic
21	37472878	C	T	C37472878T	DYRK1A	NM_001347721.2(DYRK1A):c.205C>T:p.Gln69Ter	coding	Pathogenic
21	37472992	G	A	G37472992A	DYRK1A	NM_001347721.2(DYRK1A):c.207+112G>A	noncoding	Benign
21	37473153	G	A	G37473153A	DYRK1A	NM_001347721.2(DYRK1A):c.207+273G>A	noncoding	Benign
21	37478168	C	G	C37478168G	DYRK1A	NM_001347721.2(DYRK1A):c.208-40C>G	noncoding	Benign/Likely_benign
21	37478174	A	G	A37478174G	DYRK1A	NM_001347721.2(DYRK1A):c.208-34A>G	noncoding	Benign/Likely_benign
21	37478285	C	A	C37478285A	DYRK1A	NM_001347721.2(DYRK1A):c.285C>A:p.Tyr95Ter	coding	Pathogenic
21	37478285	C	G	C37478285G	DYRK1A	NM_001347721.2(DYRK1A):c.285C>G:p.Tyr95Ter	coding	Pathogenic
21	37478457	G	A	G37478457A	DYRK1A	NM_001347721.2(DYRK1A):c.300+157G>A	noncoding	Benign
21	37480426	G	A	G37480426A	DYRK1A	NM_001347721.2(DYRK1A):c.301-212G>A	noncoding	Benign
21	37480636	A	G	A37480636G	DYRK1A	NM_001347721.2(DYRK1A):c.301-2A>G	noncoding	Pathogenic
21	37480637	G	T	G37480637T	DYRK1A	NM_001347721.2(DYRK1A):c.301-1G>T	noncoding	Pathogenic
21	37480659	C	T	C37480659T	DYRK1A	NM_001347721.2(DYRK1A):c.322C>T:p.Arg108Ter	coding	Pathogenic
21	37480671	C	T	C37480671T	DYRK1A	NM_001347721.2(DYRK1A):c.334C>T:p.Gln112Ter	coding	Pathogenic
21	37480787	C	G	C37480787G	DYRK1A	NM_001347721.2(DYRK1A):c.450C>G:p.Tyr150Ter	coding	Pathogenic
21	37480828	T	C	T37480828C	DYRK1A	NM_001347721.2(DYRK1A):c.489+2T>C	noncoding	Pathogenic
21	37480835	A	G	A37480835G	DYRK1A	NM_001347721.2(DYRK1A):c.489+9A>G	noncoding	Benign/Likely_benign
21	37486466	G	A	G37486466A	DYRK1A	NM_001347721.2(DYRK1A):c.490-1G>A	noncoding	Pathogenic
21	37486469	T	C	T37486469C	DYRK1A	NM_001347721.2(DYRK1A):c.492T>C:p.Val164=	coding	Benign/Likely_benign
21	37486551	C	T	C37486551T	DYRK1A	NM_001347721.2(DYRK1A):c.574C>T:p.Gln192Ter	coding	Pathogenic
21	37486563	C	T	C37486563T	DYRK1A	NM_001347721.2(DYRK1A):c.586C>T:p.Arg196Ter	coding	Pathogenic
21	37486607	C	A	C37486607A	DYRK1A	NM_001347721.2(DYRK1A):c.630C>A:p.Tyr210Ter	coding	Pathogenic
21	37486616	T	C	T37486616C	DYRK1A	NM_001347721.2(DYRK1A):c.637+2T>C	noncoding	Pathogenic
21	37486636	G	A	G37486636A	DYRK1A	NM_001347721.2(DYRK1A):c.637+22G>A	noncoding	Benign
21	37490173	A	G	A37490173G	DYRK1A	NM_001347721.2(DYRK1A):c.638-2A>G	noncoding	Pathogenic
21	37490201	C	T	C37490201T	DYRK1A	NM_001347721.2(DYRK1A):c.664C>T:p.Arg222Ter	coding	Pathogenic
21	37490273	C	T	C37490273T	DYRK1A	NM_001347721.2(DYRK1A):c.736C>T:p.Arg246Ter	coding	Pathogenic
21	37490297	C	T	C37490297T	DYRK1A	NM_001347721.2(DYRK1A):c.760C>T:p.Arg254Ter	coding	Pathogenic
21	37490341	G	A	G37490341A	DYRK1A	NM_001347721.2(DYRK1A):c.804G>A:p.Ala268=	coding	Benign/Likely_benign
21	37490355	G	A	G37490355A	DYRK1A	NM_001347721.2(DYRK1A):c.818G>A:p.Ser273Asn	coding	Benign/Likely_benign
21	37490370	A	T	A37490370T	DYRK1A	NM_001347721.2(DYRK1A):c.833A>T:p.Asp278Val	coding	Pathogenic/Likely_pathogenic
21	37490393	C	T	C37490393T	DYRK1A	NM_001347721.2(DYRK1A):c.856C>T:p.Leu286Phe	coding	Pathogenic/Likely_pathogenic
21	37490442	C	T	C37490442T	DYRK1A	NM_001347721.2(DYRK1A):c.905C>T:p.Ser302Phe	coding	Pathogenic/Likely_pathogenic
21	37490447	C	T	C37490447T	DYRK1A	NM_001347721.2(DYRK1A):c.910C>T:p.Gln304Ter	coding	Pathogenic
21	37493023	C	T	C37493023T	DYRK1A	NM_001347721.2(DYRK1A):c.931C>T:p.Gln311Ter	coding	Pathogenic
21	37493032	C	T	C37493032T	DYRK1A	NM_001347721.2(DYRK1A):c.940C>T:p.Gln314Ter	coding	Pathogenic
21	37493079	T	G	T37493079G	DYRK1A	NM_001347721.2(DYRK1A):c.987T>G:p.Tyr329Ter	coding	Pathogenic
21	37493100	G	A	G37493100A	DYRK1A	NM_001347721.2(DYRK1A):c.1008G>A:p.Trp336Ter	coding	Pathogenic
21	37493107	G	T	G37493107T	DYRK1A	NM_001347721.2(DYRK1A):c.1015G>T:p.Gly339Trp	coding	Pathogenic
21	37493131	A	G	A37493131G	DYRK1A	NM_001347721.2(DYRK1A):c.1039A>G:p.Thr347Ala	coding	Benign
21	37493161	G	T	G37493161T	DYRK1A	NM_001347721.2(DYRK1A):c.1069G>T:p.Glu357Ter	coding	Pathogenic
21	37493164	G	A	G37493164A	DYRK1A	NM_001347721.2(DYRK1A):c.1071+1G>A	coding	Pathogenic
21	37493205	C	G	C37493205G	DYRK1A	NM_001347721.2(DYRK1A):c.1071+42C>G	noncoding	Benign
21	37495809	A	T	A37495809T	DYRK1A	NM_001347721.2(DYRK1A):c.1072-309A>T	noncoding	Benign
21	37495810	T	A	T37495810A	DYRK1A	NM_001347721.2(DYRK1A):c.1072-308T>A	noncoding	Benign
21	37495824	T	G	T37495824G	DYRK1A	NM_001347721.2(DYRK1A):c.1072-294T>G	noncoding	Benign
21	37496178	C	T	C37496178T	DYRK1A	NM_001347721.2(DYRK1A):c.1132C>T:p.Gln378Ter	coding	Pathogenic
21	37496259	G	A	G37496259A	DYRK1A	NM_001347721.2(DYRK1A):c.1212+1G>A	coding	Pathogenic
21	37505276	C	T	C37505276T	DYRK1A	NM_001347721.2(DYRK1A):c.1213-7C>T	noncoding	Benign/Likely_benign
21	37505340	G	T	G37505340T	DYRK1A	NM_001347721.2(DYRK1A):c.1270G>T:p.Gly424Ter	coding	Pathogenic
21	37505352	C	T	C37505352T	DYRK1A	NM_001347721.2(DYRK1A):c.1282C>T:p.Arg428Ter	coding	Pathogenic
21	37505442	C	T	C37505442T	DYRK1A	NM_001347721.2(DYRK1A):c.1372C>T:p.Arg458Ter	coding	Pathogenic
21	37505443	G	A	G37505443A	DYRK1A	NM_001347721.2(DYRK1A):c.1373G>A:p.Arg458Gln	coding	Pathogenic/Likely_pathogenic
21	37505448	C	T	C37505448T	DYRK1A	NM_001347721.2(DYRK1A):c.1378C>T:p.Gln460Ter	coding	Pathogenic
21	37505459	T	C	T37505459C	DYRK1A	NM_001347721.2(DYRK1A):c.1389T>C:p.Tyr463=	coding	Benign
21	37505590	G	A	G37505590A	DYRK1A	NM_001347721.2(DYRK1A):c.1519+1G>A	coding	Pathogenic
21	37506118	C	T	C37506118T	DYRK1A	NM_001347721.2(DYRK1A):c.1539C>T:p.Ser513=	coding	Benign/Likely_benign
21	37506191	C	T	C37506191T	DYRK1A	NM_001347721.2(DYRK1A):c.1612C>T:p.Gln538Ter	coding	Pathogenic/Likely_pathogenic
21	37506287	T	G	T37506287G	DYRK1A	NM_001347721.2(DYRK1A):c.1644+64T>G	coding	Benign
21	37511904	C	A	C37511904A	DYRK1A	NM_001347721.2(DYRK1A):c.1645-7C>A	noncoding	Benign
21	37512264	A	C	A37512264C	DYRK1A	NM_001347721.2(DYRK1A):c.1998A>C:p.Gln666His	coding	Benign/Likely_benign
21	37512274	G	C	G37512274C	DYRK1A	NM_001347721.2(DYRK1A):c.2008G>C:p.Ala670Pro	coding	Benign/Likely_benign
21	37512350	T	C	T37512350C	DYRK1A	NM_001347721.2(DYRK1A):c.2084T>C:p.Val695Ala	coding	Benign
21	37512403	T	G	T37512403G	DYRK1A	NM_001347721.2(DYRK1A):c.2137T>G:p.Phe713Val	coding	Benign
21	37512410	C	G	C37512410G	DYRK1A	NM_001347721.2(DYRK1A):c.2144C>G:p.Ala715Gly	coding	Benign
21	37512490	A	T	A37512490T	DYRK1A	NM_001347721.2(DYRK1A):c.2224A>T:p.Thr742Ser	coding	Benign/Likely_benign
21	37714697	C	T	C37714697T	KCNJ6	NM_002240.5(KCNJ6):c.460G>A:p.Gly154Ser	coding	Pathogenic
21	38299277	A	G	A38299277G	KCNJ15	NM_170736.3(KCNJ15):c.16A>G:p.Ile6Val	coding	Benign
21	38814278	G	A	G38814278A	ETS2	NM_005239.6(ETS2):c.190G>A:p.Ala64Thr	coding	Benign
21	38814331	A	G	A38814331G	ETS2	NM_005239.6(ETS2):c.243A>G:p.Gln81=	coding	Benign
21	38818484	C	A	C38818484A	ETS2	NM_005239.6(ETS2):c.649C>A:p.Leu217Ile	coding	Benign
21	38821689	C	T	C38821689T	ETS2	NM_005239.6(ETS2):c.1179C>T:p.Leu393=	coding	Benign
21	39175629	C	G	C39175629G	PSMG1	NM_003720.4(PSMG1):c.828G>C:p.Leu276Phe	coding	Benign
21	39178608	T	C	T39178608C	PSMG1	NM_003720.4(PSMG1):c.496A>G:p.Ile166Val	coding	Benign
21	40042597	G	A	G40042597A	DSCAM	NM_001389.5(DSCAM):c.5460C>T:p.His1820=	coding	Benign
21	40042663	T	C	T40042663C	DSCAM	NM_001389.5(DSCAM):c.5394A>G:p.Arg1798=	coding	Benign
21	40042669	T	G	T40042669G	DSCAM	NM_001389.5(DSCAM):c.5388A>C:p.Arg1796=	coding	Benign
21	40044069	A	T	A40044069T	DSCAM	NM_001389.5(DSCAM):c.5383+9T>A	noncoding	Benign
21	40044181	T	C	T40044181C	DSCAM	NM_001389.5(DSCAM):c.5280A>G:p.Ser1760=	coding	Benign
21	40044201	G	A	G40044201A	DSCAM	NM_001389.5(DSCAM):c.5260C>T:p.Arg1754Ter	coding	Pathogenic
21	40052082	C	G	C40052082G	DSCAM	NM_001389.5(DSCAM):c.5061G>C:p.Thr1687=	coding	Benign
21	40078715	G	C	G40078715C	DSCAM	NM_001389.5(DSCAM):c.4683C>G:p.Ala1561=	coding	Benign
21	40078736	C	T	C40078736T	DSCAM	NM_001389.5(DSCAM):c.4662G>A:p.Ala1554=	coding	Benign
21	40078877	G	A	G40078877A	DSCAM	NM_001389.5(DSCAM):c.4521C>T:p.Thr1507=	coding	Benign
21	40093821	G	A	G40093821A	DSCAM	NM_001389.5(DSCAM):c.3750C>T:p.Asn1250=	coding	Benign
21	40093866	G	A	G40093866A	DSCAM	NM_001389.5(DSCAM):c.3705C>T:p.Ser1235=	coding	Benign
21	40124297	C	T	C40124297T	DSCAM	NM_001389.5(DSCAM):c.3594G>A:p.Ala1198=	coding	Benign
21	40187156	G	A	G40187156A	DSCAM	NM_001389.5(DSCAM):c.2754C>T:p.Tyr918=	coding	Benign
21	40276184	C	G	C40276184G	DSCAM	NM_001389.5(DSCAM):c.2269G>C:p.Val757Leu	coding	Benign
21	40338138	T	C	T40338138C	DSCAM	NM_001389.5(DSCAM):c.1746A>G:p.Gln582=	coding	Benign
21	40338156	G	A	G40338156A	DSCAM	NM_001389.5(DSCAM):c.1728C>T:p.Asn576=	coding	Benign
21	40347872	G	A	G40347872A	DSCAM	NM_001389.5(DSCAM):c.1008C>T:p.Ser336=	coding	Benign
21	40353544	G	A	G40353544A	DSCAM	NM_001389.5(DSCAM):c.855C>T:p.Pro285=	coding	Benign
21	40369199	A	G	A40369199G	DSCAM	NM_001389.5(DSCAM):c.555T>C:p.Asp185=	coding	Benign
21	40692859	C	T	C40692859T	DSCAM	NM_001389.5(DSCAM):c.459G>A:p.Ala153=	coding	Benign
21	40708518	A	C	A40708518C	DSCAM	NM_001389.5(DSCAM):c.297T>G:p.Thr99=	coding	Benign
21	40708605	G	A	G40708605A	DSCAM	NM_001389.5(DSCAM):c.210C>T:p.Pro70=	coding	Benign
21	41168429	C	T	C41168429T	BACE2	NM_012105.5(BACE2):c.166C>T:p.His56Tyr	coding	Benign
21	41257148	C	T	C41257148T	BACE2	NM_012105.5(BACE2):c.1135-10C>T	noncoding	Benign
21	41275363	C	T	C41275363T	BACE2	NM_012105.5(BACE2):c.1304-8C>T	noncoding	Benign
21	41322951	C	T	C41322951T	FAM3B	NM_058186.4(FAM3B):c.48C>T:p.Phe16=	coding	Benign
21	41323026	C	G	C41323026G	FAM3B	NM_058186.4(FAM3B):c.123C>G:p.Ala41=	coding	Benign
21	41323076	G	A	G41323076A	FAM3B	NM_058186.4(FAM3B):c.163+10G>A	noncoding	Benign
21	41432184	C	G	C41432184G	MX1	NM_002462.5(MX1):c.105+9C>G	noncoding	Benign
21	41437118	G	A	G41437118A	MX1	NM_002462.5(MX1):c.402G>A:p.Ser134=	coding	Benign
21	41443804	G	A	G41443804A	MX1	NM_002462.5(MX1):c.946G>A:p.Gly316Arg	coding	Benign
21	41445504	G	A	G41445504A	MX1	NM_002462.5(MX1):c.1065G>A:p.Glu355=	coding	Benign
21	41452803	C	T	C41452803T	MX1	NM_002462.5(MX1):c.1692C>T:p.Phe564=	coding	Benign
21	41458670	G	C	G41458670C	MX1	NM_002462.5(MX1):c.1901G>C:p.Ser634Thr	coding	Benign
21	41473432	C	T	C41473432T	TMPRSS2	NM_005656.4(TMPRSS2):c.792G>A:p.Pro264=	coding	Benign
21	41479207	G	A	G41479207A	TMPRSS2	NM_005656.4(TMPRSS2):c.648C>T:p.Ala216=	coding	Benign
21	41480508	G	A	G41480508A	TMPRSS2	NM_005656.4(TMPRSS2):c.540C>T:p.Tyr180=	coding	Benign
21	41494370	G	A	G41494370A	TMPRSS2	NM_005656.4(TMPRSS2):c.224C>T:p.Thr75Ile	coding	Benign
21	41494461	A	C	A41494461C	TMPRSS2	NM_005656.4(TMPRSS2):c.133T>G:p.Tyr45Asp	coding	Benign
21	41494495	G	A	G41494495A	TMPRSS2	NM_005656.4(TMPRSS2):c.99C>T:p.Val33=	coding	Benign
21	41494541	T	C	T41494541C	TMPRSS2	NM_005656.4(TMPRSS2):c.53A>G:p.His18Arg	coding	Benign
21	41739813	C	A	C41739813A	RIPK4	NM_020639.3(RIPK4):c.*1025G>T	noncoding	Benign
21	41739855	C	T	C41739855T	RIPK4	NM_020639.3(RIPK4):c.*983G>A	noncoding	Benign
21	41740091	A	T	A41740091T	RIPK4	NM_020639.3(RIPK4):c.*747T>A	noncoding	Benign
21	41740131	C	T	C41740131T	RIPK4	NM_020639.3(RIPK4):c.*707G>A	noncoding	Benign
21	41740278	T	C	T41740278C	RIPK4	NM_020639.3(RIPK4):c.*560A>G	noncoding	Benign
21	41740288	G	C	G41740288C	RIPK4	NM_020639.3(RIPK4):c.*550C>G	noncoding	Benign
21	41740623	C	G	C41740623G	RIPK4	NM_020639.3(RIPK4):c.*215G>C	noncoding	Benign
21	41740748	A	G	A41740748G	RIPK4	NM_020639.3(RIPK4):c.*90T>C	noncoding	Benign
21	41740841	G	A	G41740841A	RIPK4	NM_020639.3(RIPK4):c.2352C>T:p.Thr784=	coding	Benign
21	41740862	C	T	C41740862T	RIPK4	NM_020639.3(RIPK4):c.2331G>A:p.Thr777=	coding	Benign
21	41740868	G	A	G41740868A	RIPK4	NM_020639.3(RIPK4):c.2325C>T:p.Ala775=	coding	Benign/Likely_benign
21	41740870	C	T	C41740870T	RIPK4	NM_020639.3(RIPK4):c.2323G>A:p.Ala775Thr	coding	Benign/Likely_benign
21	41740979	C	T	C41740979T	RIPK4	NM_020639.3(RIPK4):c.2214G>A:p.Ala738=	coding	Benign
21	41741092	G	A	G41741092A	RIPK4	NM_020639.3(RIPK4):c.2101C>T:p.Pro701Ser	coding	Benign/Likely_benign
21	41741123	G	A	G41741123A	RIPK4	NM_020639.3(RIPK4):c.2070C>T:p.Val690=	coding	Benign
21	41741197	T	C	T41741197C	RIPK4	NM_020639.3(RIPK4):c.1996A>G:p.Met666Val	coding	Benign
21	41741213	G	A	G41741213A	RIPK4	NM_020639.3(RIPK4):c.1980C>T:p.Gly660=	coding	Benign
21	41741252	C	T	C41741252T	RIPK4	NM_020639.3(RIPK4):c.1941G>A:p.Thr647=	coding	Benign/Likely_benign
21	41741309	G	A	G41741309A	RIPK4	NM_020639.3(RIPK4):c.1884C>T:p.Ser628=	coding	Benign/Likely_benign
21	41741576	C	T	C41741576T	RIPK4	NM_020639.3(RIPK4):c.1617G>A:p.Thr539=	coding	Benign
21	41741606	C	T	C41741606T	RIPK4	NM_020639.3(RIPK4):c.1587G>A:p.Ser529=	coding	Benign
21	41741645	G	A	G41741645A	RIPK4	NM_020639.3(RIPK4):c.1548C>T:p.Asp516=	coding	Benign
21	41741717	C	T	C41741717T	RIPK4	NM_020639.3(RIPK4):c.1476G>A:p.Ala492=	coding	Benign
21	41741768	C	T	C41741768T	RIPK4	NM_020639.3(RIPK4):c.1425G>A:p.Leu475=	coding	Benign
21	41741882	G	A	G41741882A	RIPK4	NM_020639.3(RIPK4):c.1311C>T:p.Ser437=	coding	Benign
21	41741990	G	A	G41741990A	RIPK4	NM_020639.3(RIPK4):c.1203C>T:p.Gly401=	coding	Benign
21	41743950	G	T	G41743950T	RIPK4	NM_020639.3(RIPK4):c.1127C>A:p.Ser376Ter	coding	Pathogenic
21	41743958	C	A	C41743958A	RIPK4	NM_020639.3(RIPK4):c.1119G>T:p.Gly373=	coding	Benign
21	41744072	C	A	C41744072A	RIPK4	NM_020639.3(RIPK4):c.1005G>T:p.Leu335=	coding	Benign
21	41745845	C	T	C41745845T	RIPK4	NM_020639.3(RIPK4):c.850G>A:p.Glu284Lys	coding	Pathogenic
21	41746626	C	T	C41746626T	RIPK4	NM_020639.3(RIPK4):c.819G>A:p.Arg273=	coding	Benign/Likely_benign
21	41749197	C	G	C41749197G	RIPK4	NM_020639.3(RIPK4):c.630G>C:p.Ala210=	coding	Benign
21	41756637	A	T	A41756637T	RIPK4	NM_020639.3(RIPK4):c.362T>A:p.Ile121Asn	coding	Pathogenic
21	41756639	T	G	T41756639G	RIPK4	NM_020639.3(RIPK4):c.360A>C:p.Arg120=	coding	Benign
21	41756672	A	G	A41756672G	RIPK4	NM_020639.3(RIPK4):c.327T>C:p.Ala109=	coding	Benign
21	41756696	C	T	C41756696T	RIPK4	NM_020639.3(RIPK4):c.303G>A:p.Thr101=	coding	Benign
21	41756757	A	T	A41756757T	RIPK4	NM_020639.3(RIPK4):c.242T>A:p.Ile81Asn	coding	Pathogenic
21	41766883	C	T	C41766883T	RIPK4	NM_020639.3(RIPK4):c.159G>A:p.Ser53=	coding	Benign
21	41766925	C	T	C41766925T	RIPK4	NM_020639.3(RIPK4):c.117G>A:p.Val39=	coding	Benign
21	41767007	G	C	G41767007C	RIPK4	NM_020639.3(RIPK4):c.35C>G:p.Ala12Gly	coding	Benign
21	41767035	C	T	C41767035T	RIPK4	NM_020639.3(RIPK4):c.7G>A:p.Gly3Ser	coding	Benign
21	41899045	G	A	G41899045A	C2CD2	NM_015500.2(C2CD2):c.1870+8C>T	noncoding	Benign
21	41899234	G	A	G41899234A	C2CD2	NM_015500.2(C2CD2):c.1689C>T:p.Ala563=	coding	Benign
21	41907023	G	A	G41907023A	C2CD2	NM_015500.2(C2CD2):c.1287C>T:p.Val429=	coding	Benign
21	41909471	G	T	G41909471T	C2CD2	NM_015500.2(C2CD2):c.1006C>A:p.Arg336=	coding	Benign
21	41942213	C	T	C41942213T	C2CD2	NM_015500.2(C2CD2):c.312G>A:p.Pro104=	coding	Benign
21	42103933	C	T	C42103933T	UMODL1	NM_173568.3(UMODL1):c.1365C>T:p.Ile455=	coding	Benign
21	42111019	G	A	G42111019A	UMODL1	NM_173568.3(UMODL1):c.1797G>A:p.Pro599=	coding	Benign
21	42122988	C	T	C42122988T	UMODL1	NM_173568.3(UMODL1):c.3369C>T:p.Ile1123=	coding	Benign
21	42225918	G	A	G42225918A	ABCG1	NM_207174.1(ABCG1):c.319+4G>A	noncoding	Benign
21	42273345	C	G	C42273345G	ABCG1	NM_207174.1(ABCG1):c.480C>G:p.Pro160=	coding	Benign
21	42290193	G	C	G42290193C	ABCG1	NM_207174.1(ABCG1):c.1401G>C:p.Ala467=	coding	Benign
21	42291644	C	T	C42291644T	ABCG1	NM_207174.1(ABCG1):c.1674C>T:p.Ser558=	coding	Benign
21	42313518	C	T	C42313518T	TFF3	NM_003226.3(TFF3):c.238G>A:p.Val80Met	coding	Benign
21	42347493	A	G	A42347493G	TFF2	NM_005423.5(TFF2):c.369T>C:p.Ser123=	coding	Benign
21	42350951	G	A	G42350951A	TFF2	NM_005423.5(TFF2):c.7C>T:p.Arg3Trp	coding	Benign
21	42362504	G	A	G42362504A	TFF1	NM_003225.3(TFF1):c.239-9C>T	noncoding	Benign
21	42366424	G	A	G42366424A	TFF1	NM_003225.3(TFF1):c.72C>T:p.Ala24=	coding	Benign
21	42372760	C	T	C42372760T	TMPRSS3	NM_001256317.3(TMPRSS3):c.*2G>A	noncoding	Benign
21	42375679	C	G	C42375679G	TMPRSS3	NM_024022.3(TMPRSS3):c.1347+37G>C	noncoding	Benign
21	42375787	C	T	C42375787T	TMPRSS3	NM_001256317.3(TMPRSS3):c.1273G>A:p.Ala425Thr	coding	Pathogenic/Likely_pathogenic
21	42375852	G	A	G42375852A	TMPRSS3	NM_024022.3(TMPRSS3):c.1211C>T:p.Pro404Leu	coding	Pathogenic
21	42375869	C	G	C42375869G	TMPRSS3	NM_001256317.3(TMPRSS3):c.1192-1G>C	coding	Pathogenic
21	42376543	G	A	G42376543A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1189C>T:p.Gln397Ter	coding	Pathogenic
21	42380116	C	T	C42380116T	TMPRSS3	NM_024022.3(TMPRSS3):c.1048+1G>A	noncoding	Pathogenic
21	42380208	C	G	C42380208G	TMPRSS3	NM_001256317.3(TMPRSS3):c.957G>C:p.Met319Ile	coding	Benign/Likely_benign
21	42382048	T	C	T42382048C	TMPRSS3	NM_001256317.3(TMPRSS3):c.952+17A>G	coding	Benign
21	42382084	G	A	G42382084A	TMPRSS3	NM_001256317.3(TMPRSS3):c.933C>T:p.Ala311=	coding	Benign
21	42382101	C	T	C42382101T	TMPRSS3	NM_001256317.3(TMPRSS3):c.916G>A:p.Ala306Thr	coding	Pathogenic
21	42382235	C	A	C42382235A	TMPRSS3	NM_024022.3(TMPRSS3):c.783-1G>T	coding	Pathogenic
21	42383058	T	C	T42383058C	TMPRSS3	NM_001256317.3(TMPRSS3):c.757A>G:p.Ile253Val	coding	Benign
21	42383062	C	G	C42383062G	TMPRSS3	NM_024022.3(TMPRSS3):c.753G>C:p.Trp251Cys	coding	Pathogenic
21	42383168	C	A	C42383168A	TMPRSS3	NM_024022.3(TMPRSS3):c.647G>T:p.Arg216Leu	coding	Pathogenic
21	42383216	G	A	G42383216A	TMPRSS3	NM_001256317.3(TMPRSS3):c.617-18C>T	noncoding	Benign
21	42384004	A	T	A42384004T	TMPRSS3	NM_032405.2(TMPRSS3):c.582T>A:p.Cys194Ter	coding	Pathogenic
21	42385528	C	T	C42385528T	TMPRSS3	NM_001256317.3(TMPRSS3):c.453G>A:p.Val151=	coding	Benign
21	42385547	T	C	T42385547C	TMPRSS3	NM_001256317.3(TMPRSS3):c.447-13A>G	noncoding	Benign
21	42388417	T	C	T42388417C	TMPRSS3	NM_001256317.3(TMPRSS3):c.432A>G:p.Gln144=	coding	Benign/Likely_benign
21	42388436	G	T	G42388436T	TMPRSS3	NM_001256317.3(TMPRSS3):c.413C>A:p.Ala138Glu	coding	Pathogenic/Likely_pathogenic
21	42388518	C	T	C42388518T	TMPRSS3	NM_001256317.3(TMPRSS3):c.331G>A:p.Gly111Ser	coding	Benign
21	42388532	C	T	C42388532T	TMPRSS3	NM_001256317.3(TMPRSS3):c.323-6G>A	noncoding	Pathogenic
21	42388534	A	G	A42388534G	TMPRSS3	NM_024022.3(TMPRSS3):c.323-8T>C	noncoding	Benign
21	42388935	G	A	G42388935A	TMPRSS3	NM_024022.3(TMPRSS3):c.316C>T:p.Arg106Cys	coding	Pathogenic/Likely_pathogenic
21	42388943	T	C	T42388943C	TMPRSS3	NM_032404.2(TMPRSS3):c.-74A>G	coding	Pathogenic
21	42388983	C	T	C42388983T	TMPRSS3	NM_001256317.3(TMPRSS3):c.268G>A:p.Ala90Thr	coding	Benign/Likely_benign
21	42389020	G	A	G42389020A	TMPRSS3	NM_032404.2(TMPRSS3):c.-151C>T	coding	Benign
21	42389975	C	T	C42389975T	TMPRSS3	NM_001256317.3(TMPRSS3):c.157G>A:p.Val53Ile	coding	Benign
21	42395451	C	T	C42395451T	TMPRSS3	NM_001256317.3(TMPRSS3):c.-34G>A	noncoding	Benign/Likely_benign
21	42395475	C	G	C42395475G	TMPRSS3	NM_001256317.3(TMPRSS3):c.-51-7G>C	noncoding	Benign
21	42413101	G	T	G42413101T	UBASH3A	NM_018961.4(UBASH3A):c.432G>T:p.Thr144=	coding	Benign
21	42418472	C	T	C42418472T	UBASH3A	NM_018961.4(UBASH3A):c.909C>T:p.Ile303=	coding	Benign
21	42418475	T	C	T42418475C	UBASH3A	NM_018961.4(UBASH3A):c.912T>C:p.Phe304=	coding	Benign
21	42432108	C	T	C42432108T	UBASH3A	NM_018961.4(UBASH3A):c.1176C>T:p.Thr392=	coding	Benign
21	42444598	G	A	G42444598A	UBASH3A	NM_018961.4(UBASH3A):c.1803G>A:p.Gly601=	coding	Benign
21	42447180	A	G	A42447180G	UBASH3A	NM_018961.4(UBASH3A):c.1972A>G:p.Ile658Val	coding	Benign
21	42475891	A	T	A42475891T	RSPH1	NM_080860.4(RSPH1):c.877+7T>A	noncoding	Benign
21	42476033	C	T	C42476033T	RSPH1	NM_080860.4(RSPH1):c.742G>A:p.Gly248Arg	coding	Benign
21	42476042	C	T	C42476042T	RSPH1	NM_080860.4(RSPH1):c.733G>A:p.Gly245Arg	coding	Benign
21	42476045	C	T	C42476045T	RSPH1	NM_080860.4(RSPH1):c.730G>A:p.Ala244Thr	coding	Benign
21	42477307	G	A	G42477307A	RSPH1	NM_080860.4(RSPH1):c.711C>T:p.Asp237=	coding	Benign
21	42477368	A	C	A42477368C	RSPH1	NM_080860.4(RSPH1):c.650T>G:p.Leu217Trp	coding	Benign
21	42477439	T	C	T42477439C	RSPH1	NM_080860.4(RSPH1):c.579A>G:p.Arg193=	coding	Benign
21	42482664	T	C	T42482664C	RSPH1	NM_080860.4(RSPH1):c.546A>G:p.Gln182=	coding	Benign
21	42485662	G	A	G42485662A	RSPH1	NM_080860.4(RSPH1):c.501+7C>T	noncoding	Benign
21	42485720	G	A	G42485720A	RSPH1	NM_080860.4(RSPH1):c.450C>T:p.Ala150=	coding	Benign
21	42485777	C	T	C42485777T	RSPH1	NM_080860.4(RSPH1):c.393G>A:p.Ala131=	coding	Benign
21	42485804	C	T	C42485804T	RSPH1	NM_080860.4(RSPH1):c.366G>A:p.Arg122=	coding	Pathogenic
21	42485807	G	T	G42485807T	RSPH1	NM_080860.4(RSPH1):c.366-3C>A	noncoding	Pathogenic
21	42486358	A	G	A42486358G	RSPH1	NM_080860.4(RSPH1):c.365+13T>C	noncoding	Benign
21	42486421	G	C	G42486421C	RSPH1	NM_080860.4(RSPH1):c.315C>G:p.Tyr105Ter	coding	Pathogenic
21	42486428	C	T	C42486428T	RSPH1	NM_080860.4(RSPH1):c.308G>A:p.Gly103Asp	coding	Pathogenic
21	42486455	C	T	C42486455T	RSPH1	NM_080860.4(RSPH1):c.281G>A:p.Trp94Ter	coding	Pathogenic
21	42486463	T	G	T42486463G	RSPH1	NM_080860.4(RSPH1):c.275-2A>C	noncoding	Pathogenic
21	42492836	G	A	G42492836A	RSPH1	NM_080860.4(RSPH1):c.196C>T:p.Arg66Ter	coding	Pathogenic
21	42493014	G	A	G42493014A	RSPH1	NM_080860.4(RSPH1):c.120C>T:p.Asn40=	coding	Benign
21	42493049	C	A	C42493049A	RSPH1	NM_080860.4(RSPH1):c.85G>T:p.Glu29Ter	coding	Pathogenic
21	42534740	G	A	G42534740A	SLC37A1	NM_001320537.2(SLC37A1):c.181G>A:p.Val61Ile	coding	Benign
21	42539566	C	G	C42539566G	SLC37A1	NM_001320537.2(SLC37A1):c.405C>G:p.Leu135=	coding	Benign
21	42539566	C	T	C42539566T	SLC37A1	NM_001320537.2(SLC37A1):c.405C>T:p.Leu135=	coding	Benign
21	42542412	C	T	C42542412T	SLC37A1	NM_001320537.2(SLC37A1):c.495C>T:p.Asn165=	coding	Benign
21	42559021	G	A	G42559021A	SLC37A1	NM_001320537.2(SLC37A1):c.913G>A:p.Val305Ile	coding	Benign
21	42564701	G	A	G42564701A	SLC37A1	NM_001320537.2(SLC37A1):c.1136-7G>A	noncoding	Benign
21	42564769	G	C	G42564769C	SLC37A1	NM_001320537.2(SLC37A1):c.1197G>C:p.Leu399=	coding	Benign
21	42564800	C	T	C42564800T	SLC37A1	NM_001320537.2(SLC37A1):c.1221+7C>T	noncoding	Benign
21	42564801	G	A	G42564801A	SLC37A1	NM_001320537.2(SLC37A1):c.1221+8G>A	noncoding	Benign
21	42565848	A	T	A42565848T	SLC37A1	NM_001320537.2(SLC37A1):c.1243A>T:p.Ser415Cys	coding	Benign
21	42770791	T	G	T42770791G	PDE9A	NM_002606.3(PDE9A):c.1679T>G:p.Met560Arg	coding	Benign
21	42852333	G	A	G42852333A	WDR4	NM_018669.6(WDR4):c.976-9C>T	noncoding	Benign
21	42862339	C	A	C42862339A	WDR4	NM_018669.6(WDR4):c.509G>T:p.Arg170Leu	coding	Pathogenic
21	42862339	C	T	C42862339T	WDR4	NM_018669.6(WDR4):c.509G>A:p.Arg170Gln	coding	Pathogenic
21	42862357	T	G	T42862357G	WDR4	NM_018669.6(WDR4):c.491A>C:p.Asp164Ala	coding	Pathogenic
21	42863593	G	A	G42863593A	WDR4	NM_018669.6(WDR4):c.300C>T:p.Thr100=	coding	Benign
21	42879463	C	T	C42879463T	WDR4	NM_018669.6(WDR4):c.33G>A:p.Gly11=	coding	Benign
21	43053199	T	C	T43053199C	CBS	NM_000071.3(CBS):c.*681A>G	noncoding	Benign
21	43053314	C	T	C43053314T	CBS	NM_000071.2(CBS):c.*566G>A	noncoding	Benign
21	43053315	G	A	G43053315A	CBS	NM_000071.2(CBS):c.*565C>T	noncoding	Benign
21	43053336	A	G	A43053336G	CBS	NM_000071.2(CBS):c.*544T>C	noncoding	Benign
21	43053581	C	T	C43053581T	CBS	NM_000071.2(CBS):c.*299G>A	noncoding	Benign
21	43053757	G	C	G43053757C	CBS	NM_000071.2(CBS):c.*123C>G	noncoding	Benign
21	43053799	C	T	C43053799T	CBS	NM_000071.2(CBS):c.*81G>A	noncoding	Benign
21	43053846	C	T	C43053846T	CBS	NM_000071.2(CBS):c.*34G>A	noncoding	Benign/Likely_benign
21	43053853	G	A	G43053853A	CBS	NM_000071.2(CBS):c.*27C>T	noncoding	Benign
21	43053870	G	T	G43053870T	CBS	NM_000071.3(CBS):c.*10C>A	noncoding	Benign
21	43053893	C	T	C43053893T	CBS	NM_000071.2(CBS):c.1643G>A:p.Arg548Gln	coding	Benign/Likely_benign
21	43053904	G	A	G43053904A	CBS	NM_000071.2(CBS):c.1632C>T:p.Ala544=	coding	Benign/Likely_benign
21	43056649	A	G	A43056649G	CBS	NM_000071.2(CBS):c.1552+154T>C	noncoding	Benign
21	43056816	G	A	G43056816A	CBS	NM_000071.2(CBS):c.1539C>T:p.His513=	coding	Benign/Likely_benign
21	43057890	T	C	T43057890C	CBS	NM_000071.2(CBS):c.1467+255A>G	noncoding	Benign
21	43057954	C	T	C43057954T	CBS	NM_000071.2(CBS):c.1467+191G>A	noncoding	Benign
21	43058107	T	C	T43058107C	CBS	NM_000071.2(CBS):c.1467+38A>G	noncoding	Benign
21	43058267	G	A	G43058267A	CBS	NM_000071.2(CBS):c.1359-14C>T	noncoding	Benign/Likely_benign
21	43058570	T	C	T43058570C	CBS	NM_000071.2(CBS):c.1358+264A>G	noncoding	Benign
21	43058862	C	T	C43058862T	CBS	NM_000071.2(CBS):c.1330G>A:p.Asp444Asn	coding	Pathogenic/Likely_pathogenic
21	43058912	G	A	G43058912A	CBS	NM_000071.2(CBS):c.1280C>T:p.Pro427Leu	coding	Pathogenic
21	43058926	C	T	C43058926T	CBS	NM_000071.2(CBS):c.1266G>A:p.Pro422=	coding	Benign/Likely_benign
21	43058935	C	T	C43058935T	CBS	NM_000071.2(CBS):c.1257G>A:p.Leu419=	coding	Benign/Likely_benign
21	43058965	C	T	C43058965T	CBS	NM_000071.3(CBS):c.1227G>A:p.Trp409Ter	coding	Pathogenic
21	43058966	C	T	C43058966T	CBS	NM_000071.3(CBS):c.1226G>A:p.Trp409Ter	coding	Pathogenic
21	43058970	T	G	T43058970G	CBS	NM_000071.2(CBS):c.1224-2A>C	noncoding	Pathogenic
21	43059213	C	T	C43059213T	CBS	NM_000071.2(CBS):c.1223+13G>A	noncoding	Benign
21	43059214	G	A	G43059214A	CBS	NM_000071.2(CBS):c.1223+12C>T	noncoding	Benign
21	43059225	C	A	C43059225A	CBS	NM_000071.2(CBS):c.1223+1G>T	noncoding	Pathogenic
21	43059297	C	G	C43059297G	CBS	NM_000071.3(CBS):c.1152G>C:p.Lys384Asn	coding	Pathogenic
21	43059299	T	C	T43059299C	CBS	NM_000071.2(CBS):c.1150A>G:p.Lys384Glu	coding	Pathogenic
21	43059591	A	G	A43059591G	CBS	NM_000071.2(CBS):c.1146-288T>C	noncoding	Benign
21	43060173	G	A	G43060173A	CBS	NM_000071.2(CBS):c.1145+268C>T	noncoding	Benign
21	43060434	G	A	G43060434A	CBS	NM_000071.2(CBS):c.1145+7C>T	noncoding	Benign/Likely_benign
21	43060450	C	T	C43060450T	CBS	NM_000071.2(CBS):c.1136G>A:p.Arg379Gln	coding	Pathogenic/Likely_pathogenic
21	43060451	G	A	G43060451A	CBS	NM_000071.2(CBS):c.1135C>T:p.Arg379Trp	coding	Pathogenic/Likely_pathogenic
21	43060460	C	T	C43060460T	CBS	NM_000071.2(CBS):c.1126G>A:p.Asp376Asn	coding	Pathogenic
21	43060475	C	T	C43060475T	CBS	NM_000071.2(CBS):c.1111G>A:p.Val371Met	coding	Pathogenic/Likely_pathogenic
21	43060506	G	A	G43060506A	CBS	NM_000071.3(CBS):c.1080C>T:p.Ala360=	coding	Benign
21	43060528	G	A	G43060528A	CBS	NM_000071.2(CBS):c.1058C>T:p.Thr353Met	coding	Pathogenic/Likely_pathogenic
21	43060868	A	G	A43060868G	CBS	NM_000071.2(CBS):c.1040-322T>C	noncoding	Benign
21	43060869	C	T	C43060869T	CBS	NM_000071.2(CBS):c.1040-323G>A	noncoding	Benign
21	43062292	G	A	G43062292A	CBS	NM_000071.2(CBS):c.1039+19C>T	noncoding	Benign
21	43062311	C	T	C43062311T	CBS	NM_000071.2(CBS):c.1039G>A:p.Gly347Ser	coding	Pathogenic/Likely_pathogenic
21	43062343	C	T	C43062343T	CBS	NM_000071.2(CBS):c.1007G>A:p.Arg336His	coding	Pathogenic/Likely_pathogenic
21	43062344	G	A	G43062344A	CBS	NM_000071.2(CBS):c.1006C>T:p.Arg336Cys	coding	Pathogenic
21	43062358	G	T	G43062358T	CBS	NM_000071.2(CBS):c.992C>A:p.Ala331Glu	coding	Pathogenic/Likely_pathogenic
21	43062381	C	T	C43062381T	CBS	NM_000071.2(CBS):c.969G>A:p.Trp323Ter	coding	Pathogenic
21	43062391	A	G	A43062391G	CBS	NM_000071.2(CBS):c.959T>C:p.Val320Ala	coding	Pathogenic/Likely_pathogenic
21	43062933	G	A	G43062933A	CBS	NM_000071.2(CBS):c.954+20C>T	noncoding	Benign
21	43062945	C	T	C43062945T	CBS	NM_000071.2(CBS):c.954+8G>A	noncoding	Benign/Likely_benign
21	43062952	C	T	C43062952T	CBS	NM_000071.2(CBS):c.954+1G>A	noncoding	Pathogenic
21	43062966	A	G	A43062966G	CBS	NM_000071.3(CBS):c.941T>C:p.Val314Ala	coding	Pathogenic
21	43062968	C	T	C43062968T	CBS	NM_000071.2(CBS):c.939G>A:p.Thr313=	coding	Benign/Likely_benign
21	43062988	C	T	C43062988T	CBS	NM_000071.3(CBS):c.919G>A:p.Gly307Ser	coding	Pathogenic
21	43063074	A	G	A43063074G	CBS	NM_000071.3(CBS):c.833T>C:p.Ile278Thr	coding	Pathogenic
21	43063090	G	A	G43063090A	CBS	NM_000071.2(CBS):c.829-12C>T	noncoding	Benign
21	43063092	G	A	G43063092A	CBS	NM_000071.2(CBS):c.829-14C>T	noncoding	Benign
21	43063138	G	A	G43063138A	CBS	NM_000071.2(CBS):c.829-60C>T	noncoding	Benign
21	43063166	C	T	C43063166T	CBS	NM_000071.2(CBS):c.829-88G>A	noncoding	Benign
21	43063169	C	T	C43063169T	CBS	NM_000071.2(CBS):c.829-91G>A	noncoding	Benign/Likely_benign
21	43063343	C	T	C43063343T	CBS	NM_000071.2(CBS):c.829-265G>A	noncoding	Benign
21	43063638	T	A	T43063638A	CBS	NM_000071.2(CBS):c.828+262A>T	noncoding	Benign
21	43063663	G	A	G43063663A	CBS	NM_000071.2(CBS):c.828+237C>T	noncoding	Benign
21	43063877	T	C	T43063877C	CBS	NM_000071.2(CBS):c.828+23A>G	noncoding	Benign
21	43063899	C	T	C43063899T	CBS	NM_000071.2(CBS):c.828+1G>A	noncoding	Pathogenic/Likely_pathogenic
21	43063912	A	T	A43063912T	CBS	NM_000071.2(CBS):c.816T>A:p.Cys272Ter	coding	Pathogenic/Likely_pathogenic
21	43063931	C	T	C43063931T	CBS	NM_000071.2(CBS):c.797G>A:p.Arg266Lys	coding	Pathogenic/Likely_pathogenic
21	43063943	G	A	G43063943A	CBS	NM_000071.2(CBS):c.785C>T:p.Thr262Met	coding	Pathogenic/Likely_pathogenic
21	43063992	C	G	C43063992G	CBS	NM_000071.2(CBS):c.737-1G>C	coding	Pathogenic/Likely_pathogenic
21	43064908	C	T	C43064908T	CBS	NM_000071.2(CBS):c.736+295G>A	noncoding	Benign
21	43064921	A	C	A43064921C	CBS	NM_000071.2(CBS):c.736+282T>G	noncoding	Benign
21	43064922	T	G	T43064922G	CBS	NM_000071.2(CBS):c.736+281A>C	noncoding	Benign
21	43065201	A	C	A43065201C	CBS	NM_000071.2(CBS):c.736+2T>G	noncoding	Pathogenic
21	43065239	C	T	C43065239T	CBS	NM_000071.2(CBS):c.700G>A:p.Asp234Asn	coding	Pathogenic/Likely_pathogenic
21	43065240	G	A	G43065240A	CBS	NM_000071.3(CBS):c.699C>T:p.Tyr233=	coding	Benign
21	43065255	G	C	G43065255C	CBS	NM_000071.3(CBS):c.684C>G:p.Asn228Lys	coding	Pathogenic
21	43065255	G	T	G43065255T	CBS	NM_000071.3(CBS):c.684C>A:p.Asn228Lys	coding	Pathogenic
21	43065263	C	T	C43065263T	CBS	NM_000071.2(CBS):c.676G>A:p.Ala226Thr	coding	Pathogenic/Likely_pathogenic
21	43065264	G	A	G43065264A	CBS	NM_000071.2(CBS):c.675C>T:p.Asn225=	coding	Benign/Likely_benign
21	43065417	G	A	G43065417A	CBS	NM_000071.2(CBS):c.636C>T:p.Asn212=	coding	Benign
21	43065480	C	T	C43065480T	CBS	NM_000071.3(CBS):c.573G>A:p.Thr191=	coding	Benign/Likely_benign
21	43065481	G	A	G43065481A	CBS	NM_000071.2(CBS):c.572C>T:p.Thr191Met	coding	Pathogenic
21	43065582	C	A	C43065582A	CBS	NM_000071.2(CBS):c.531+34G>T	noncoding	Benign
21	43065605	C	T	C43065605T	CBS	NM_000071.3(CBS):c.531+11G>A	noncoding	Benign/Likely_benign
21	43065621	C	T	C43065621T	CBS	NM_000071.2(CBS):c.526G>A:p.Glu176Lys	coding	Pathogenic
21	43065653	C	T	C43065653T	CBS	NM_000071.2(CBS):c.494G>A:p.Cys165Tyr	coding	Pathogenic
21	43065684	C	T	C43065684T	CBS	NM_000071.3(CBS):c.463G>A:p.Ala155Thr	coding	Pathogenic
21	43065690	C	T	C43065690T	CBS	NM_000071.2(CBS):c.457G>A:p.Gly153Arg	coding	Pathogenic/Likely_pathogenic
21	43066168	C	T	C43066168T	CBS	NM_000071.2(CBS):c.451+75G>A	noncoding	Benign
21	43066243	C	T	C43066243T	CBS	NM_000071.3(CBS):c.451G>A:p.Gly151Arg	coding	Pathogenic
21	43066252	C	T	C43066252T	CBS	NM_000071.2(CBS):c.442G>A:p.Gly148Arg	coding	Pathogenic/Likely_pathogenic
21	43066260	G	A	G43066260A	CBS	NM_000071.2(CBS):c.434C>T:p.Pro145Leu	coding	Pathogenic/Likely_pathogenic
21	43066264	C	T	C43066264T	CBS	NM_000071.2(CBS):c.430G>A:p.Glu144Lys	coding	Pathogenic/Likely_pathogenic
21	43066265	G	C	G43066265C	CBS	NM_000071.3(CBS):c.429C>G:p.Ile143Met	coding	Pathogenic
21	43066279	C	T	C43066279T	CBS	NM_000071.2(CBS):c.415G>A:p.Gly139Arg	coding	Pathogenic
21	43066320	C	T	C43066320T	CBS	NM_000071.2(CBS):c.374G>A:p.Arg125Gln	coding	Pathogenic
21	43066321	G	A	G43066321A	CBS	NM_000071.2(CBS):c.373C>T:p.Arg125Trp	coding	Pathogenic/Likely_pathogenic
21	43066332	C	T	C43066332T	CBS	NM_000071.2(CBS):c.362G>A:p.Arg121His	coding	Pathogenic/Likely_pathogenic
21	43066333	G	A	G43066333A	CBS	NM_000071.2(CBS):c.361C>T:p.Arg121Cys	coding	Pathogenic/Likely_pathogenic
21	43066353	G	A	G43066353A	CBS	NM_000071.2(CBS):c.341C>T:p.Ala114Val	coding	Pathogenic/Likely_pathogenic
21	43066369	A	G	A43066369G	CBS	NM_000071.2(CBS):c.325T>C:p.Cys109Arg	coding	Pathogenic
21	43066423	C	G	C43066423G	CBS	NM_000071.2(CBS):c.317-46G>C	noncoding	Benign
21	43068379	C	T	C43068379T	CBS	NM_000071.2(CBS):c.316+130G>A	noncoding	Benign
21	43068521	T	G	T43068521G	CBS	NM_000071.3(CBS):c.304A>C:p.Lys102Gln	coding	Benign/Likely_benign
21	43068523	A	G	A43068523G	CBS	NM_000071.2(CBS):c.302T>C:p.Leu101Pro	coding	Pathogenic/Likely_pathogenic
21	43068541	A	G	A43068541G	CBS	NM_000071.2(CBS):c.284T>C:p.Ile95Thr	coding	Pathogenic
21	43068572	C	T	C43068572T	CBS	NM_000071.2(CBS):c.253G>A:p.Gly85Arg	coding	Pathogenic
21	43071984	C	T	C43071984T	CBS	NM_000071.2(CBS):c.209+1G>A	noncoding	Pathogenic
21	43072038	G	T	G43072038T	CBS	NM_000071.3(CBS):c.156C>A:p.Cys52Ter	coding	Pathogenic
21	43072048	G	A	G43072048A	CBS	NM_000071.2(CBS):c.146C>T:p.Pro49Leu	coding	Pathogenic/Likely_pathogenic
21	43072142	G	A	G43072142A	CBS	NM_000071.2(CBS):c.52C>T:p.Arg18Cys	coding	Benign/Likely_benign
21	43072161	C	T	C43072161T	CBS	NM_000071.2(CBS):c.33G>A:p.Gly11=	coding	Benign/Likely_benign
21	43169105	C	T	C43169105T	CRYAA	NM_000394.4(CRYAA):c.6C>T:p.Asp2=	coding	Benign
21	43169126	G	A	G43169126A	CRYAA	NM_000394.4(CRYAA):c.27G>A:p.Trp9Ter	coding	Pathogenic
21	43169133	C	T	C43169133T	CRYAA	NM_000394.4(CRYAA):c.34C>T:p.Arg12Cys	coding	Pathogenic
21	43169153	C	T	C43169153T	CRYAA	NM_000394.4(CRYAA):c.54C>T:p.Tyr18=	coding	Benign
21	43169160	C	T	C43169160T	CRYAA	NM_000394.4(CRYAA):c.61C>T:p.Arg21Trp	coding	Pathogenic
21	43169161	G	A	G43169161A	CRYAA	NM_000394.4(CRYAA):c.62G>A:p.Arg21Gln	coding	Pathogenic
21	43169244	C	T	C43169244T	CRYAA	NM_000394.4(CRYAA):c.145C>T:p.Arg49Cys	coding	Pathogenic
21	43169259	C	T	C43169259T	CRYAA	NM_000394.4(CRYAA):c.160C>T:p.Arg54Cys	coding	Pathogenic
21	43170573	G	A	G43170573A	CRYAA	NM_000394.4(CRYAA):c.246G>A:p.Pro82=	coding	Benign
21	43170619	G	A	G43170619A	CRYAA	NM_000394.4(CRYAA):c.292G>A:p.Gly98Arg	coding	Pathogenic
21	43172082	C	T	C43172082T	CRYAA	NM_000394.4(CRYAA):c.324C>T:p.Gly108=	coding	Benign
21	43172085	C	T	C43172085T	CRYAA	NM_000394.4(CRYAA):c.327C>T:p.Tyr109=	coding	Benign
21	43172104	C	A	C43172104A	CRYAA	NM_000394.4(CRYAA):c.346C>A:p.Arg116Ser	coding	Pathogenic
21	43172104	C	T	C43172104T	CRYAA	NM_000394.4(CRYAA):c.346C>T:p.Arg116Cys	coding	Pathogenic
21	43172105	G	A	G43172105A	CRYAA	NM_000394.4(CRYAA):c.347G>A:p.Arg116His	coding	Pathogenic
21	43172202	T	A	T43172202A	CRYAA	NM_000394.4(CRYAA):c.444T>A:p.Thr148=	coding	Benign
21	43172373	T	G	T43172373G	CRYAA	NM_000394.4(CRYAA):c.*93T>G	noncoding	Benign
21	43172765	G	A	G43172765A	CRYAA	NM_000394.4(CRYAA):c.*485G>A	noncoding	Benign
21	43172787	C	G	C43172787G	CRYAA	NM_000394.4(CRYAA):c.*507C>G	noncoding	Benign
21	43416867	C	T	C43416867T	SIK1	NM_173354.5(SIK1):c.2227G>A:p.Ala743Thr	coding	Benign
21	43416872	A	C	A43416872C	SIK1	NM_173354.5(SIK1):c.2222T>G:p.Leu741Arg	coding	Benign
21	43416890	C	T	C43416890T	SIK1	NM_173354.5(SIK1):c.2204G>A:p.Gly735Asp	coding	Benign/Likely_benign
21	43416920	G	A	G43416920A	SIK1	NM_173354.5(SIK1):c.2174C>T:p.Ala725Val	coding	Benign
21	43416934	C	A	C43416934A	SIK1	NM_173354.5(SIK1):c.2160G>T:p.Pro720=	coding	Benign/Likely_benign
21	43416952	C	T	C43416952T	SIK1	NM_173354.5(SIK1):c.2142G>A:p.Leu714=	coding	Benign/Likely_benign
21	43416986	G	A	G43416986A	SIK1	NM_173354.5(SIK1):c.2108C>T:p.Thr703Met	coding	Benign
21	43417007	G	A	G43417007A	SIK1	NM_173354.5(SIK1):c.2087C>T:p.Pro696Leu	coding	Benign
21	43417022	C	T	C43417022T	SIK1	NM_173354.5(SIK1):c.2072G>A:p.Gly691Asp	coding	Benign
21	43417035	C	T	C43417035T	SIK1	NM_173354.5(SIK1):c.2059G>A:p.Ala687Thr	coding	Benign/Likely_benign
21	43417045	C	T	C43417045T	SIK1	NM_173354.5(SIK1):c.2049G>A:p.Pro683=	coding	Benign/Likely_benign
21	43417049	G	A	G43417049A	SIK1	NM_173354.5(SIK1):c.2045C>T:p.Ala682Val	coding	Benign
21	43417080	C	T	C43417080T	SIK1	NM_173354.5(SIK1):c.2014G>A:p.Gly672Ser	coding	Benign
21	43417613	C	T	C43417613T	SIK1	NM_173354.5(SIK1):c.1906G>A:p.Gly636Ser	coding	Pathogenic
21	43417622	G	A	G43417622A	SIK1	NM_173354.5(SIK1):c.1897C>T:p.Gln633Ter	coding	Pathogenic
21	43417671	G	A	G43417671A	SIK1	NM_173354.5(SIK1):c.1848C>T:p.Pro616=	coding	Benign
21	43417675	G	A	G43417675A	SIK1	NM_173354.5(SIK1):c.1844C>T:p.Ala615Val	coding	Benign
21	43417679	G	A	G43417679A	SIK1	NM_173354.5(SIK1):c.1840C>T:p.Gln614Ter	coding	Pathogenic
21	43417737	C	T	C43417737T	SIK1	NM_173354.5(SIK1):c.1782G>A:p.Thr594=	coding	Benign
21	43418399	C	T	C43418399T	SIK1	NM_173354.5(SIK1):c.1605G>A:p.Pro535=	coding	Benign
21	43418410	C	A	C43418410A	SIK1	NM_173354.5(SIK1):c.1594G>T:p.Ala532Ser	coding	Benign
21	43418444	G	A	G43418444A	SIK1	NM_173354.5(SIK1):c.1560C>T:p.Leu520=	coding	Benign
21	43418450	C	A	C43418450A	SIK1	NM_173354.5(SIK1):c.1554G>T:p.Ala518=	coding	Benign
21	43418515	C	A	C43418515A	SIK1	NM_173354.5(SIK1):c.1489G>T:p.Ala497Ser	coding	Benign
21	43418534	G	A	G43418534A	SIK1	NM_173354.5(SIK1):c.1470C>T:p.Val490=	coding	Benign/Likely_benign
21	43418544	G	A	G43418544A	SIK1	NM_173354.5(SIK1):c.1463-3C>T	noncoding	Benign
21	43418548	G	A	G43418548A	SIK1	NM_173354.5(SIK1):c.1463-7C>T	noncoding	Benign
21	43419028	G	A	G43419028A	SIK1	NM_173354.5(SIK1):c.1455C>T:p.Thr485=	coding	Benign
21	43419104	G	A	G43419104A	SIK1	NM_173354.5(SIK1):c.1379C>T:p.Thr460Met	coding	Benign
21	43419113	T	G	T43419113G	SIK1	NM_173354.5(SIK1):c.1370A>C:p.Glu457Ala	coding	Benign
21	43419195	G	A	G43419195A	SIK1	NM_173354.5(SIK1):c.1288C>T:p.Arg430Trp	coding	Benign
21	43419205	G	A	G43419205A	SIK1	NM_173354.5(SIK1):c.1278C>T:p.Ser426=	coding	Benign
21	43419383	C	T	C43419383T	SIK1	NM_173354.5(SIK1):c.1215G>A:p.Met405Ile	coding	Benign/Likely_benign
21	43419469	C	T	C43419469T	SIK1	NM_173354.5(SIK1):c.1129G>A:p.Glu377Lys	coding	Benign
21	43419852	C	T	C43419852T	SIK1	NM_173354.5(SIK1):c.1119+7G>A	noncoding	Benign
21	43419901	G	A	G43419901A	SIK1	NM_173354.5(SIK1):c.1077C>T:p.Ala359=	coding	Benign/Likely_benign
21	43419906	G	C	G43419906C	SIK1	NM_173354.5(SIK1):c.1072C>G:p.Pro358Ala	coding	Benign
21	43419918	C	T	C43419918T	SIK1	NM_173354.5(SIK1):c.1060G>A:p.Ala354Thr	coding	Benign
21	43419939	C	A	C43419939A	SIK1	NM_173354.5(SIK1):c.1039G>T:p.Glu347Ter	coding	Pathogenic
21	43420240	C	T	C43420240T	SIK1	NM_173354.5(SIK1):c.966G>A:p.Thr322=	coding	Benign
21	43420255	C	A	C43420255A	SIK1	NM_173354.5(SIK1):c.951G>T:p.Val317=	coding	Benign/Likely_benign
21	43420258	G	A	G43420258A	SIK1	NM_173354.5(SIK1):c.948C>T:p.Gly316=	coding	Benign
21	43420276	A	G	A43420276G	SIK1	NM_173354.5(SIK1):c.930T>C:p.Gly310=	coding	Benign
21	43420282	C	T	C43420282T	SIK1	NM_173354.5(SIK1):c.924G>A:p.Ala308=	coding	Benign/Likely_benign
21	43420300	G	A	G43420300A	SIK1	NM_173354.5(SIK1):c.906C>T:p.Gly302=	coding	Benign
21	43420347	G	T	G43420347T	SIK1	NM_173354.5(SIK1):c.859C>A:p.Pro287Thr	coding	Pathogenic
21	43420351	C	T	C43420351T	SIK1	NM_173354.5(SIK1):c.855G>A:p.Pro285=	coding	Benign
21	43420352	G	A	G43420352A	SIK1	NM_173354.5(SIK1):c.854C>T:p.Pro285Leu	coding	Benign
21	43420416	C	T	C43420416T	SIK1	NM_173354.5(SIK1):c.790G>A:p.Ala264Thr	coding	Benign/Likely_benign
21	43421065	C	T	C43421065T	SIK1	NM_173354.5(SIK1):c.693G>A:p.Thr231=	coding	Benign
21	43421684	C	T	C43421684T	SIK1	NM_173354.5(SIK1):c.453G>A:p.Lys151=	coding	Benign
21	43425399	C	A	C43425399A	SIK1	NM_173354.5(SIK1):c.273+8G>T	noncoding	Benign
21	43425437	C	G	C43425437G	SIK1	NM_173354.5(SIK1):c.243G>C:p.Leu81=	coding	Benign
21	43426136	C	T	C43426136T	SIK1	NM_173354.5(SIK1):c.43G>A:p.Gly15Ser	coding	Benign
21	43426175	C	T	C43426175T	SIK1	NM_173354.5(SIK1):c.4G>A:p.Val2Ile	coding	Benign
21	43672340	C	T	C43672340T	RRP1B	NM_015056.3(RRP1B):c.246C>T:p.Val82=	coding	Benign
21	43674628	T	A	T43674628A	RRP1B	NM_015056.3(RRP1B):c.358-8T>A	noncoding	Benign
21	43690313	T	C	T43690313C	RRP1B	NM_015056.3(RRP1B):c.1892T>C:p.Leu631Pro	coding	Benign
21	43753619	G	A	G43753619A	PDXK	NM_003681.5(PDXK):c.659G>A:p.Arg220Gln	coding	Pathogenic
21	43753642	G	A	G43753642A	PDXK	NM_003681.5(PDXK):c.682G>A:p.Ala228Thr	coding	Pathogenic
21	43774128	A	G	A43774128G	CSTB	NM_000100.3(CSTB):c.*74T>C	noncoding	Benign
21	43774195	G	C	G43774195C	CSTB	NM_000100.3(CSTB):c.*7C>G	noncoding	Benign/Likely_benign
21	43774287	T	G	T43774287G	CSTB	NM_000100.3(CSTB):c.212A>C:p.Gln71Pro	coding	Pathogenic
21	43774297	G	A	G43774297A	CSTB	NM_000100.3(CSTB):c.202C>T:p.Arg68Ter	coding	Pathogenic
21	43774332	T	C	T43774332C	CSTB	NM_000100.3(CSTB):c.169-2A>G	noncoding	Pathogenic/Likely_pathogenic
21	43774658	C	T	C43774658T	CSTB	NM_000100.3(CSTB):c.168G>A:p.Lys56=	coding	Pathogenic/Likely_pathogenic
21	43774677	C	T	C43774677T	CSTB	NM_000100.3(CSTB):c.149G>A:p.Gly50Glu	coding	Pathogenic
21	43774690	G	A	G43774690A	CSTB	NM_000100.3(CSTB):c.136C>T:p.Gln46Ter	coding	Pathogenic
21	43774701	G	T	G43774701T	CSTB	NM_000100.3(CSTB):c.125C>A:p.Ser42Ter	coding	Pathogenic/Likely_pathogenic
21	43774760	C	G	C43774760G	CSTB	NM_000100.3(CSTB):c.67-1G>C	coding	Pathogenic
21	43774762	A	G	A43774762G	CSTB	NM_000100.3(CSTB):c.67-3T>C	noncoding	Benign/Likely_benign
21	43774909	C	T	C43774909T	CSTB	NM_000100.3(CSTB):c.67-150G>A	noncoding	Benign
21	43776115	A	G	A43776115G	CSTB	NM_000100.3(CSTB):c.66+89T>C	noncoding	Benign
21	43776204	C	T	C43776204T	CSTB	NM_000100.3(CSTB):c.66G>A:p.Gln22=	coding	Pathogenic/Likely_pathogenic
21	43776206	G	A	G43776206A	CSTB	NM_000100.3(CSTB):c.64C>T:p.Gln22Ter	coding	Pathogenic
21	43776216	G	A	G43776216A	CSTB	NM_000100.3(CSTB):c.54C>T:p.His18=	coding	Benign/Likely_benign
21	43776255	C	A	C43776255A	CSTB	NM_000100.3(CSTB):c.15G>T:p.Ala5=	coding	Benign/Likely_benign
21	43776260	C	G	C43776260G	CSTB	NM_000100.3(CSTB):c.10G>C:p.Gly4Arg	coding	Pathogenic
21	43776323	G	A	G43776323A	CSTB	NM_000100.3(CSTB):c.-54C>T	noncoding	Benign
21	43793309	C	T	C43793309T	RRP1	NM_003683.6(RRP1):c.275-10C>T	noncoding	Benign
21	43798092	C	T	C43798092T	RRP1	NM_003683.6(RRP1):c.803C>T:p.Pro268Leu	coding	Benign
21	43799574	C	T	C43799574T	RRP1	NM_003683.6(RRP1):c.816C>T:p.Ser272=	coding	Benign
21	43803502	G	C	G43803502C	RRP1	NM_003683.6(RRP1):c.1124-10G>C	noncoding	Benign
21	44079633	C	T	C44079633T	TRAPPC10	NM_003274.5(TRAPPC10):c.1539C>T:p.Gly513=	coding	Benign
21	44087937	G	T	G44087937T	TRAPPC10	NM_003274.5(TRAPPC10):c.2769+9G>T	noncoding	Benign
21	44137261	C	T	C44137261T	GATD3A	NM_004649.8(GATD3A):c.393C>T:p.Ala131=	coding	Benign
21	44236977	C	T	C44236977T	ICOSLG	NM_015259.6(ICOSLG):c.296G>A:p.Arg99His	coding	Benign
21	44237037	C	T	C44237037T	ICOSLG	NM_015259.6(ICOSLG):c.236G>A:p.Arg79His	coding	Benign
21	44286007	A	G	A44286007G	AIRE	NM_000383.4(AIRE):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
21	44286007	A	T	A44286007T	AIRE	NM_000383.4(AIRE):c.1A>T:p.Met1Leu	coding	Pathogenic
21	44286053	C	T	C44286053T	AIRE	NM_000383.4(AIRE):c.47C>T:p.Thr16Met	coding	Pathogenic
21	44286069	C	T	C44286069T	AIRE	NM_000383.4(AIRE):c.63C>T:p.Ala21=	coding	Benign/Likely_benign
21	44286089	T	C	T44286089C	AIRE	NM_000383.4(AIRE):c.83T>C:p.Leu28Pro	coding	Pathogenic/Likely_pathogenic
21	44286105	T	C	T44286105C	AIRE	NM_000383.4(AIRE):c.99T>C:p.Ala33=	coding	Benign
21	44286656	T	C	T44286656C	AIRE	NM_000383.4(AIRE):c.232T>C:p.Trp78Arg	coding	Pathogenic
21	44286663	T	G	T44286663G	AIRE	NM_000383.4(AIRE):c.239T>G:p.Val80Gly	coding	Pathogenic
21	44286671	A	G	A44286671G	AIRE	NM_000383.4(AIRE):c.247A>G:p.Lys83Glu	coding	Pathogenic
21	44286678	A	G	A44286678G	AIRE	NM_000383.4(AIRE):c.254A>G:p.Tyr85Cys	coding	Pathogenic
21	44286698	C	T	C44286698T	AIRE	NM_000383.4(AIRE):c.274C>T:p.Arg92Trp	coding	Pathogenic
21	44286992	C	T	C44286992T	AIRE	NM_000383.4(AIRE):c.322C>T:p.Gln108Ter	coding	Pathogenic
21	44287018	G	A	G44287018A	AIRE	NM_000383.4(AIRE):c.348G>A:p.Pro116=	coding	Benign
21	44287085	C	T	C44287085T	AIRE	NM_000383.4(AIRE):c.415C>T:p.Arg139Ter	coding	Pathogenic
21	44287117	G	A	G44287117A	AIRE	NM_000383.4(AIRE):c.447G>A:p.Arg149=	coding	Benign
21	44287135	T	C	T44287135C	AIRE	NM_000383.4(AIRE):c.463+2T>C	noncoding	Pathogenic/Likely_pathogenic
21	44287522	C	T	C44287522T	AIRE	NM_000383.4(AIRE):c.469C>T:p.Gln157Ter	coding	Pathogenic
21	44287550	C	T	C44287550T	AIRE	NM_000383.4(AIRE):c.497C>T:p.Pro166Leu	coding	Benign/Likely_benign
21	44287570	C	T	C44287570T	AIRE	NM_000383.4(AIRE):c.517C>T:p.Gln173Ter	coding	Pathogenic/Likely_pathogenic
21	44287574	G	A	G44287574A	AIRE	NM_000383.4(AIRE):c.521G>A:p.Arg174His	coding	Benign
21	44288354	C	A	C44288354A	AIRE	NM_000383.4(AIRE):c.548C>A:p.Thr183Asn	coding	Benign
21	44288394	C	T	C44288394T	AIRE	NM_000383.4(AIRE):c.588C>T:p.Ser196=	coding	Benign
21	44288413	C	T	C44288413T	AIRE	NM_000383.4(AIRE):c.607C>T:p.Arg203Ter	coding	Pathogenic
21	44289685	C	T	C44289685T	AIRE	NM_000383.4(AIRE):c.681C>T:p.Gly227=	coding	Benign
21	44289686	G	T	G44289686T	AIRE	NM_000383.4(AIRE):c.682G>T:p.Gly228Trp	coding	Pathogenic
21	44289721	C	T	C44289721T	AIRE	NM_000383.4(AIRE):c.717C>T:p.Ser239=	coding	Benign
21	44289759	C	T	C44289759T	AIRE	NM_000383.4(AIRE):c.755C>T:p.Pro252Leu	coding	Benign/Likely_benign
21	44289773	C	T	C44289773T	AIRE	NM_000383.4(AIRE):c.769C>T:p.Arg257Ter	coding	Pathogenic
21	44290023	C	G	C44290023G	AIRE	NM_000383.4(AIRE):c.834C>G:p.Ser278Arg	coding	Benign
21	44291192	C	T	C44291192T	AIRE	NM_000383.4(AIRE):c.977C>T:p.Pro326Leu	coding	Pathogenic
21	44292371	C	T	C44292371T	AIRE	NM_000383.4(AIRE):c.1065C>T:p.Pro355=	coding	Benign/Likely_benign
21	44292389	C	T	C44292389T	AIRE	NM_000383.4(AIRE):c.1083C>T:p.Pro361=	coding	Benign
21	44292407	G	A	G44292407A	AIRE	NM_000383.4(AIRE):c.1095+6G>A	noncoding	Benign
21	44292984	G	C	G44292984C	AIRE	NM_000383.4(AIRE):c.1096-9G>C	noncoding	Benign
21	44292992	G	A	G44292992A	AIRE	NM_000383.4(AIRE):c.1096-1G>A	noncoding	Pathogenic
21	44293013	G	A	G44293013A	AIRE	NM_000383.4(AIRE):c.1116G>A:p.Ser372=	coding	Benign
21	44293094	T	C	T44293094C	AIRE	NM_000383.4(AIRE):c.1197T>C:p.Ala399=	coding	Benign
21	44293096	C	T	C44293096T	AIRE	NM_000383.4(AIRE):c.1199C>T:p.Pro400Leu	coding	Benign
21	44293100	T	C	T44293100C	AIRE	NM_000383.4(AIRE):c.1203T>C:p.Pro401=	coding	Benign
21	44293104	G	A	G44293104A	AIRE	NM_000383.4(AIRE):c.1207G>A:p.Ala403Thr	coding	Benign
21	44293170	C	T	C44293170T	AIRE	NM_000383.4(AIRE):c.1273C>T:p.Gln425Ter	coding	Pathogenic
21	44293806	G	A	G44293806A	AIRE	NM_000383.4(AIRE):c.1296G>A:p.Ala432=	coding	Benign/Likely_benign
21	44293875	G	A	G44293875A	AIRE	NM_000383.4(AIRE):c.1365G>A:p.Trp455Ter	coding	Pathogenic
21	44293920	C	T	C44293920T	AIRE	NM_000383.4(AIRE):c.1400+10C>T	noncoding	Benign
21	44294390	C	T	C44294390T	AIRE	NM_000383.4(AIRE):c.1401-11C>T	noncoding	Benign
21	44294404	G	A	G44294404A	AIRE	NM_000383.4(AIRE):c.1404G>A:p.Thr468=	coding	Benign/Likely_benign
21	44294404	G	C	G44294404C	AIRE	NM_000383.4(AIRE):c.1404G>C:p.Thr468=	coding	Benign
21	44294411	C	T	C44294411T	AIRE	NM_000383.4(AIRE):c.1411C>T:p.Arg471Cys	coding	Benign/Likely_benign
21	44294476	C	T	C44294476T	AIRE	NM_000383.4(AIRE):c.1476C>T:p.Pro492=	coding	Benign/Likely_benign
21	44294483	C	T	C44294483T	AIRE	NM_000383.4(AIRE):c.1483C>T:p.Leu495=	coding	Benign
21	44296386	G	A	G44296386A	AIRE	NM_000383.4(AIRE):c.1507G>A:p.Asp503Asn	coding	Benign
21	44296428	G	T	G44296428T	AIRE	NM_000383.4(AIRE):c.1549G>T:p.Glu517Ter	coding	Pathogenic
21	44297654	A	G	A44297654G	AIRE	NM_000383.4(AIRE):c.1567-2A>G	noncoding	Pathogenic
21	44297667	T	C	T44297667C	AIRE	NM_000383.4(AIRE):c.1578T>C:p.Asp526=	coding	Benign
21	44297705	C	T	C44297705T	AIRE	NM_000383.4(AIRE):c.1616C>T:p.Pro539Leu	coding	Pathogenic/Likely_pathogenic
21	44300101	C	T	C44300101T	PFKL	NM_002626.6(PFKL):c.-5C>T	noncoding	Benign
21	44305823	C	T	C44305823T	PFKL	NM_002626.6(PFKL):c.86-858C>T	coding	Benign
21	44312233	C	T	C44312233T	PFKL	NM_002626.6(PFKL):c.366C>T:p.Leu122=	coding	Benign
21	44313984	A	T	A44313984T	PFKL	NM_002626.6(PFKL):c.710A>T:p.Asp237Val	coding	Benign
21	44314028	G	A	G44314028A	PFKL	NM_002626.6(PFKL):c.747+7G>A	noncoding	Benign
21	44324903	G	A	G44324903A	PFKL	NM_002626.6(PFKL):c.1863G>A:p.Arg621=	coding	Benign
21	44326219	T	C	T44326219C	PFKL	NM_002626.6(PFKL):c.2150T>C:p.Val717Ala	coding	Benign
21	44330229	C	T	C44330229T	CFAP410	NM_004928.3(CFAP410):c.740G>A:p.Arg247His	coding	Benign
21	44330262	T	C	T44330262C	CFAP410	NM_004928.3(CFAP410):c.707A>G:p.Gln236Arg	coding	Benign
21	44330285	A	G	A44330285G	CFAP410	NM_004928.3(CFAP410):c.684T>C:p.Asp228=	coding	Benign
21	44330298	A	G	A44330298G	CFAP410	NM_004928.3(CFAP410):c.671T>C:p.Leu224Pro	coding	Pathogenic
21	44330327	C	G	C44330327G	CFAP410	NM_004928.3(CFAP410):c.643-1G>C	coding	Pathogenic
21	44330328	T	C	T44330328C	CFAP410	NM_004928.3(CFAP410):c.643-2A>G	noncoding	Pathogenic
21	44330349	T	A	T44330349A	CFAP410	NM_004928.3(CFAP410):c.643-23A>T	noncoding	Pathogenic
21	44330814	G	A	G44330814A	CFAP410	NM_004928.3(CFAP410):c.642+9C>T	coding	Benign
21	44330842	G	A	G44330842A	CFAP410	NM_004928.3(CFAP410):c.623C>T:p.Ser208Leu	coding	Benign
21	44330877	C	T	C44330877T	CFAP410	NM_004928.3(CFAP410):c.588G>A:p.Arg196=	coding	Benign
21	44331842	C	T	C44331842T	CFAP410	NM_004928.3(CFAP410):c.545+1G>A	noncoding	Pathogenic
21	44331928	C	T	C44331928T	CFAP410	NM_004928.3(CFAP410):c.460G>A:p.Gly154Ser	coding	Benign
21	44331931	C	T	C44331931T	CFAP410	NM_004928.3(CFAP410):c.457G>A:p.Gly153Ser	coding	Benign
21	44331939	G	A	G44331939A	CFAP410	NM_004928.3(CFAP410):c.449C>T:p.Thr150Ile	coding	Benign
21	44333051	G	A	G44333051A	CFAP410	NM_004928.3(CFAP410):c.355C>T:p.Gln119Ter	coding	Pathogenic
21	44333059	G	A	G44333059A	CFAP410	NM_004928.3(CFAP410):c.347C>T:p.Pro116Leu	coding	Pathogenic
21	44333075	C	T	C44333075T	CFAP410	NM_004928.3(CFAP410):c.331G>A:p.Val111Met	coding	Pathogenic/Likely_pathogenic
21	44333086	T	C	T44333086C	CFAP410	NM_004928.3(CFAP410):c.320A>G:p.Tyr107Cys	coding	Pathogenic
21	44333087	A	G	A44333087G	CFAP410	NM_004928.3(CFAP410):c.319T>C:p.Tyr107His	coding	Pathogenic
21	44333120	C	T	C44333120T	CFAP410	NM_004928.3(CFAP410):c.286G>A:p.Glu96Lys	coding	Pathogenic
21	44333188	C	G	C44333188G	CFAP410	NM_004928.3(CFAP410):c.218G>C:p.Arg73Pro	coding	Pathogenic/Likely_pathogenic
21	44333234	C	A	C44333234A	CFAP410	NM_004928.3(CFAP410):c.172G>T:p.Val58Leu	coding	Benign
21	44335763	C	T	C44335763T	CFAP410	NM_004928.3(CFAP410):c.138G>A:p.Thr46=	coding	Benign
21	44339162	C	T	C44339162T	CFAP410	NM_004928.3(CFAP410):c.33G>A:p.Arg11=	coding	Benign
21	44339194	T	C	T44339194C	CFAP410	NM_004928.3(CFAP410):c.1A>G:p.Met1Val	coding	Benign
21	44364207	G	A	G44364207A	TRPM2	NM_003307.3(TRPM2):c.348G>A:p.Lys116=	coding	Benign
21	44364258	G	A	G44364258A	TRPM2	NM_003307.3(TRPM2):c.399G>A:p.Thr133=	coding	Benign
21	44366826	G	A	G44366826A	TRPM2	NM_003307.3(TRPM2):c.496G>A:p.Val166Ile	coding	Benign
21	44369351	C	A	C44369351A	TRPM2	NM_003307.3(TRPM2):c.771+8C>A	noncoding	Benign
21	44379135	G	A	G44379135A	TRPM2	NM_003307.3(TRPM2):c.1153G>A:p.Val385Met	coding	Benign
21	44391613	C	T	C44391613T	TRPM2	NM_003307.3(TRPM2):c.1782C>T:p.His594=	coding	Benign
21	44405220	G	A	G44405220A	TRPM2	NM_003307.3(TRPM2):c.2617G>A:p.Val873Ile	coding	Benign
21	44405222	C	T	C44405222T	TRPM2	NM_003307.3(TRPM2):c.2619C>T:p.Val873=	coding	Benign
21	44405895	C	T	C44405895T	TRPM2	NM_003307.3(TRPM2):c.2658-10C>T	noncoding	Benign
21	44405935	C	T	C44405935T	TRPM2	NM_003307.3(TRPM2):c.2688C>T:p.Arg896=	coding	Benign
21	44406660	C	T	C44406660T	TRPM2	NM_003307.3(TRPM2):c.2857C>T:p.Gln953Ter	coding	Benign
21	44406761	C	T	C44406761T	TRPM2	NM_003307.3(TRPM2):c.2958C>T:p.Ile986=	coding	Benign
21	44413911	C	G	C44413911G	TRPM2	NM_003307.3(TRPM2):c.2983C>G:p.His995Asp	coding	Benign
21	44425778	A	G	A44425778G	TRPM2	NM_003307.3(TRPM2):c.3746A>G:p.Asn1249Ser	coding	Benign
21	44425809	C	T	C44425809T	TRPM2	NM_003307.3(TRPM2):c.3777C>T:p.Asn1259=	coding	Benign
21	44426654	C	T	C44426654T	TRPM2	NM_003307.3(TRPM2):c.3796-6C>T	noncoding	Benign
21	44426693	A	G	A44426693G	TRPM2	NM_003307.3(TRPM2):c.3829A>G:p.Thr1277Ala	coding	Benign
21	44435196	C	T	C44435196T	TRPM2	NM_003307.3(TRPM2):c.4040C>T:p.Thr1347Met	coding	Benign
21	44437075	G	A	G44437075A	TRPM2	NM_003307.3(TRPM2):c.4075G>A:p.Glu1359Lys	coding	Benign
21	44437104	A	G	A44437104G	TRPM2	NM_003307.3(TRPM2):c.4104A>G:p.Ile1368Met	coding	Benign
21	44437106	A	G	A44437106G	TRPM2	NM_003307.3(TRPM2):c.4106A>G:p.Lys1369Arg	coding	Benign
21	44439144	A	G	A44439144G	TRPM2	NM_003307.3(TRPM2):c.4245A>G:p.Glu1415=	coding	Benign
21	44439159	C	T	C44439159T	TRPM2	NM_003307.3(TRPM2):c.4260C>T:p.Cys1420=	coding	Benign
21	44504784	A	T	A44504784T	TSPEAR	NM_144991.3(TSPEAR):c.1852T>A:p.Tyr618Asn	coding	Pathogenic
21	44504800	C	A	C44504800A	TSPEAR	NM_144991.3(TSPEAR):c.1836G>T:p.Ser612=	coding	Benign
21	44504857	C	T	C44504857T	TSPEAR	NM_144991.3(TSPEAR):c.1779G>A:p.Ser593=	coding	Benign
21	44504888	G	A	G44504888A	TSPEAR	NM_144991.3(TSPEAR):c.1755-7C>T	noncoding	Benign
21	44509207	G	A	G44509207A	TSPEAR	NM_144991.3(TSPEAR):c.1746C>T:p.Leu582=	coding	Benign/Likely_benign
21	44509309	G	A	G44509309A	TSPEAR	NM_144991.3(TSPEAR):c.1644C>T:p.Tyr548=	coding	Benign
21	44521871	G	A	G44521871A	TSPEAR	NM_144991.3(TSPEAR):c.1566+12C>T	noncoding	Benign
21	44525765	G	C	G44525765C	TSPEAR	NM_144991.3(TSPEAR):c.1224C>G:p.His408Gln	coding	Benign
21	44528474	G	A	G44528474A	TSPEAR	NM_144991.3(TSPEAR):c.900C>T:p.Asn300=	coding	Benign
21	44529874	C	T	C44529874T	TSPEAR	NM_144991.3(TSPEAR):c.714G>A:p.Ala238=	coding	Benign/Likely_benign
21	44529886	G	A	G44529886A	TSPEAR	NM_144991.3(TSPEAR):c.702C>T:p.Asn234=	coding	Benign/Likely_benign
21	44531124	A	G	A44531124G	TSPEAR	NM_144991.3(TSPEAR):c.552T>C:p.Asp184=	coding	Benign
21	44533671	G	A	G44533671A	TSPEAR	NM_144991.3(TSPEAR):c.542+14C>T	noncoding	Benign
21	44533693	C	T	C44533693T	TSPEAR	NM_144991.3(TSPEAR):c.534G>A:p.Pro178=	coding	Benign/Likely_benign
21	44574113	T	C	T44574113C	TSPEAR;KRTAP10-4	NM_144991.3(TSPEAR):c.83-6108A>G	coding	Benign
21	44637665	A	C	A44637665C	TSPEAR;KRTAP10-10	NM_144991.3(TSPEAR):c.83-69660T>G	coding	Benign
21	44637717	T	C	T44637717C	KRTAP10-10	NM_181688.3(KRTAP10-10):c.300T>C:p.Cys100=	coding	Benign
21	44637719	T	A	T44637719A	TSPEAR;KRTAP10-10	NM_144991.3(TSPEAR):c.83-69714A>T	coding	Benign
21	44711458	G	A	G44711458A	TSPEAR	NM_144991.3(TSPEAR):c.57C>T:p.Gly19=	coding	Benign
21	44711464	G	A	G44711464A	TSPEAR	NM_144991.3(TSPEAR):c.51C>T:p.Gly17=	coding	Benign/Likely_benign
21	44711471	G	A	G44711471A	TSPEAR	NM_144991.3(TSPEAR):c.44C>T:p.Ala15Val	coding	Benign/Likely_benign
21	44806982	G	A	G44806982A	SUMO3	NM_006936.3(SUMO3):c.281C>T:p.Pro94Leu	coding	Benign
21	44813937	G	A	G44813937A	SUMO3	NM_006936.3(SUMO3):c.150+39C>T	coding	Benign
21	44861255	G	C	G44861255C	PTTG1IP	NM_004339.4(PTTG1IP):c.185C>G:p.Thr62Ser	coding	Benign
21	44885998	C	A	C44885998A	ITGB2	NM_000211.5(ITGB2):c.*370G>T	noncoding	Benign
21	44886197	C	G	C44886197G	ITGB2	NM_000211.5(ITGB2):c.*171G>C	noncoding	Benign
21	44886223	G	T	G44886223T	ITGB2	NM_000211.5(ITGB2):c.*145C>A	noncoding	Benign
21	44886246	C	T	C44886246T	ITGB2	NM_000211.5(ITGB2):c.*122G>A	noncoding	Benign
21	44886247	G	A	G44886247A	ITGB2	NM_000211.5(ITGB2):c.*121C>T	noncoding	Benign
21	44886557	C	G	C44886557G	ITGB2	NM_000211.5(ITGB2):c.2248-127G>C	noncoding	Benign
21	44886679	G	A	G44886679A	ITGB2	NM_000211.5(ITGB2):c.2247+57C>T	noncoding	Benign
21	44888715	G	C	G44888715C	ITGB2	NM_000211.5(ITGB2):c.2058C>G:p.Leu686=	coding	Benign
21	44888760	C	T	C44888760T	ITGB2	NM_000211.5(ITGB2):c.2013G>A:p.Trp671Ter	coding	Pathogenic
21	44888880	G	A	G44888880A	ITGB2	NM_000211.5(ITGB2):c.1893C>T:p.Cys631=	coding	Benign
21	44888885	C	T	C44888885T	ITGB2	NM_000211.5(ITGB2):c.1888G>A:p.Glu630Lys	coding	Benign/Likely_benign
21	44889274	A	G	A44889274G	ITGB2	NM_000211.5(ITGB2):c.1877+2T>C	noncoding	Pathogenic
21	44889376	G	A	G44889376A	ITGB2	NM_000211.5(ITGB2):c.1777C>T:p.Arg593Cys	coding	Pathogenic
21	44889397	G	A	G44889397A	ITGB2	NM_000211.5(ITGB2):c.1756C>T:p.Arg586Trp	coding	Benign/Likely_benign
21	44889969	C	T	C44889969T	ITGB2	NM_000211.5(ITGB2):c.1657+9G>A	noncoding	Benign
21	44890000	G	A	G44890000A	ITGB2	NM_000211.5(ITGB2):c.1635C>T:p.Asn545=	coding	Benign/Likely_benign
21	44890033	G	T	G44890033T	ITGB2	NM_000211.5(ITGB2):c.1602C>A:p.Cys534Ter	coding	Pathogenic
21	44890093	G	A	G44890093A	ITGB2	NM_000211.5(ITGB2):c.1542C>T:p.Cys514=	coding	Benign
21	44890138	C	T	C44890138T	ITGB2	NM_000211.5(ITGB2):c.1497G>A:p.Lys499=	coding	Benign
21	44891898	A	G	A44891898G	ITGB2	NM_000211.5(ITGB2):c.1323T>C:p.Val441=	coding	Benign
21	44893527	G	T	G44893527T	ITGB2	NM_000211.5(ITGB2):c.1101C>A:p.Val367=	coding	Benign
21	44894992	A	T	A44894992T	ITGB2	NM_000211.5(ITGB2):c.1062T>A:p.His354Gln	coding	Benign
21	44895002	T	C	T44895002C	ITGB2	NM_000211.5(ITGB2):c.1052A>G:p.Asn351Ser	coding	Pathogenic
21	44895024	C	A	C44895024A	ITGB2	NM_000211.5(ITGB2):c.1030G>T:p.Glu344Ter	coding	Pathogenic
21	44895028	C	G	C44895028G	ITGB2	NM_000211.5(ITGB2):c.1026G>C:p.Val342=	coding	Benign
21	44895052	G	A	G44895052A	ITGB2	NM_000211.5(ITGB2):c.1002C>T:p.Thr334=	coding	Benign/Likely_benign
21	44895107	C	T	C44895107T	ITGB2	NM_000211.5(ITGB2):c.994-47G>A	noncoding	Benign
21	44899069	C	A	C44899069A	ITGB2	NM_000211.5(ITGB2):c.991G>T:p.Glu331Ter	coding	Pathogenic
21	44899154	T	C	T44899154C	ITGB2	NM_000211.5(ITGB2):c.906A>G:p.Pro302=	coding	Benign
21	44900319	C	A	C44900319A	ITGB2	NM_000211.5(ITGB2):c.897+1G>T	noncoding	Pathogenic
21	44900319	C	T	C44900319T	ITGB2	NM_000211.5(ITGB2):c.897+1G>A	noncoding	Pathogenic
21	44900367	C	T	C44900367T	ITGB2	NM_000211.5(ITGB2):c.850G>A:p.Gly284Ser	coding	Pathogenic
21	44900398	C	T	C44900398T	ITGB2	NM_000211.5(ITGB2):c.819G>A:p.Gly273=	coding	Benign
21	44900400	C	T	C44900400T	ITGB2	NM_000211.5(ITGB2):c.817G>A:p.Gly273Arg	coding	Pathogenic/Likely_pathogenic
21	44900407	C	T	C44900407T	ITGB2	NM_000211.5(ITGB2):c.810G>A:p.Ala270=	coding	Benign
21	44900410	G	A	G44900410A	ITGB2	NM_000211.5(ITGB2):c.807C>T:p.Phe269=	coding	Benign/Likely_benign
21	44900488	C	T	C44900488T	ITGB2	NM_000211.5(ITGB2):c.742-13G>A	noncoding	Benign
21	44900489	G	T	G44900489T	ITGB2	NM_000211.5(ITGB2):c.742-14C>A	noncoding	Pathogenic
21	44901484	G	A	G44901484A	ITGB2	NM_000211.5(ITGB2):c.741+8C>T	noncoding	Benign
21	44901491	C	T	C44901491T	ITGB2	NM_000211.5(ITGB2):c.741+1G>A	noncoding	Pathogenic
21	44901501	G	A	G44901501A	ITGB2	NM_000211.5(ITGB2):c.732C>T:p.Ala244=	coding	Benign/Likely_benign
21	44901646	T	G	T44901646G	ITGB2	NM_000211.5(ITGB2):c.587A>C:p.Lys196Thr	coding	Pathogenic
21	44901671	G	A	G44901671A	ITGB2	NM_000211.5(ITGB2):c.562C>T:p.Arg188Ter	coding	Pathogenic
21	44901700	G	A	G44901700A	ITGB2	NM_000211.5(ITGB2):c.533C>T:p.Pro178Leu	coding	Pathogenic
21	44901728	C	T	C44901728T	ITGB2	NM_000211.5(ITGB2):c.505G>A:p.Gly169Arg	coding	Pathogenic
21	44901729	G	A	G44901729A	ITGB2	NM_000211.5(ITGB2):c.504C>T:p.Phe168=	coding	Benign
21	44901744	C	A	C44901744A	ITGB2	NM_000211.5(ITGB2):c.500-11G>T	noncoding	Benign
21	44903358	G	A	G44903358A	ITGB2	NM_000211.5(ITGB2):c.499+7C>T	noncoding	Benign
21	44903418	A	G	A44903418G	ITGB2	NM_000211.5(ITGB2):c.446T>C:p.Leu149Pro	coding	Pathogenic
21	44903452	A	G	A44903452G	ITGB2	NM_000211.5(ITGB2):c.412T>C:p.Ser138Pro	coding	Pathogenic
21	44903482	C	A	C44903482A	ITGB2	NM_000211.5(ITGB2):c.382G>T:p.Asp128Tyr	coding	Pathogenic
21	44903482	C	T	C44903482T	ITGB2	NM_000211.5(ITGB2):c.382G>A:p.Asp128Asn	coding	Pathogenic
21	44903541	G	A	G44903541A	ITGB2	NM_000211.5(ITGB2):c.329-6C>T	noncoding	Benign/Likely_benign
21	44906900	C	T	C44906900T	ITGB2	NM_000211.5(ITGB2):c.328+15G>A	noncoding	Benign
21	44906921	G	A	G44906921A	ITGB2	NM_000211.5(ITGB2):c.322C>T:p.Arg108Ter	coding	Pathogenic/Likely_pathogenic
21	44907014	C	T	C44907014T	ITGB2	NM_000211.5(ITGB2):c.229G>A:p.Asp77Asn	coding	Benign/Likely_benign
21	44907111	C	A	C44907111A	ITGB2	NM_000211.5(ITGB2):c.148-16G>T	noncoding	Benign
21	44908184	T	C	T44908184C	ITGB2	NM_000211.5(ITGB2):c.148-1089A>G	noncoding	Benign
21	44910275	G	A	G44910275A	ITGB2	NM_000211.5(ITGB2):c.147+9C>T	noncoding	Benign/Likely_benign
21	44910308	G	A	G44910308A	ITGB2	NM_000211.5(ITGB2):c.123C>T:p.Pro41=	coding	Benign
21	44910314	C	T	C44910314T	ITGB2	NM_000211.5(ITGB2):c.117G>A:p.Ser39=	coding	Benign
21	44910352	T	A	T44910352A	ITGB2	NM_000211.5(ITGB2):c.79A>T:p.Lys27Ter	coding	Pathogenic
21	44910387	C	T	C44910387T	ITGB2	NM_000211.5(ITGB2):c.59-15G>A	coding	Benign
21	44910713	C	T	C44910713T	ITGB2	NM_000211.5(ITGB2):c.58+12G>A	noncoding	Benign
21	44910752	G	A	G44910752A	ITGB2	NM_000211.5(ITGB2):c.31C>T:p.Leu11=	coding	Benign
21	44910755	C	T	C44910755T	ITGB2	NM_000211.5(ITGB2):c.28G>A:p.Ala10Thr	coding	Benign
21	44910759	C	A	C44910759A	ITGB2	NM_000211.5(ITGB2):c.24G>T:p.Leu8=	coding	Benign
21	44910770	G	A	G44910770A	ITGB2	NM_000211.5(ITGB2):c.13C>T:p.Arg5Cys	coding	Benign
21	44910781	A	T	A44910781T	ITGB2	NM_000211.5(ITGB2):c.2T>A:p.Met1Lys	coding	Pathogenic
21	44920928	A	G	A44920928G	ITGB2	NM_001127491.3(ITGB2):c.-4+7726T>C	noncoding	Benign
21	45176010	C	T	C45176010T	ADARB1	NM_001112.4(ADARB1):c.309C>T:p.Pro103=	coding	Benign
21	45176080	A	G	A45176080G	ADARB1	NM_001112.4(ADARB1):c.379A>G:p.Lys127Glu	coding	Pathogenic
21	45185018	A	G	A45185018G	ADARB1	NM_001112.4(ADARB1):c.1492A>G:p.Ser498Gly	coding	Pathogenic
21	45204677	G	A	G45204677A	ADARB1	NM_001112.4(ADARB1):c.1688G>A:p.Arg563Gln	coding	Pathogenic
21	45222084	G	T	G45222084T	ADARB1	NM_001112.4(ADARB1):c.1993G>T:p.Ala665Ser	coding	Benign
21	45222136	C	T	C45222136T	ADARB1	NM_001112.4(ADARB1):c.2045C>T:p.Ala682Val	coding	Pathogenic
21	45222182	C	T	C45222182T	ADARB1	NM_001112.4(ADARB1):c.2091C>T:p.Phe697=	coding	Benign
21	45265635	C	T	C45265635T	POFUT2	NM_133635.6(POFUT2):c.1137G>A:p.Arg379=	coding	Benign
21	45269881	G	A	G45269881A	POFUT2	NM_133635.6(POFUT2):c.970C>T:p.Arg324Trp	coding	Benign
21	45283495	C	T	C45283495T	POFUT2	NM_133635.6(POFUT2):c.415G>A:p.Val139Ile	coding	Benign
21	45455586	C	T	C45455586T	COL18A1	NM_030582.4(COL18A1):c.56C>T:p.Ala19Val	coding	Benign/Likely_benign
21	45455650	T	C	T45455650C	COL18A1	NM_030582.4(COL18A1):c.120T>C:p.His40=	coding	Benign
21	45455861	G	A	G45455861A	COL18A1	NM_030582.4(COL18A1):c.331G>A:p.Gly111Arg	coding	Benign
21	45456118	C	G	C45456118G	COL18A1	NM_030582.4(COL18A1):c.588C>G:p.Pro196=	coding	Benign
21	45456169	A	G	A45456169G	COL18A1	NM_030582.4(COL18A1):c.639A>G:p.Pro213=	coding	Benign
21	45468261	G	A	G45468261A	COL18A1	NM_030582.4(COL18A1):c.666G>A:p.Val222=	coding	Benign
21	45468376	C	T	C45468376T	COL18A1	NM_030582.4(COL18A1):c.781C>T:p.Arg261Trp	coding	Benign/Likely_benign
21	45468555	A	G	A45468555G	COL18A1	NM_030582.4(COL18A1):c.960A>G:p.Thr320=	coding	Benign
21	45468645	A	G	A45468645G	COL18A1	NM_030582.4(COL18A1):c.1050A>G:p.Ala350=	coding	Benign
21	45468738	C	T	C45468738T	COL18A1	NM_030582.4(COL18A1):c.1143C>T:p.Ala381=	coding	Benign
21	45468747	C	T	C45468747T	COL18A1	NM_030582.4(COL18A1):c.1152C>T:p.Phe384=	coding	Benign
21	45468759	G	A	G45468759A	COL18A1	NM_030582.4(COL18A1):c.1164G>A:p.Ala388=	coding	Benign
21	45473853	A	G	A45473853G	COL18A1	NM_030582.4(COL18A1):c.1192-42A>G	noncoding	Benign
21	45473910	C	T	C45473910T	COL18A1	NM_030582.4(COL18A1):c.1207C>T:p.Leu403=	coding	Benign
21	45475513	G	T	G45475513T	COL18A1	NM_030582.4(COL18A1):c.1316G>T:p.Arg439Leu	coding	Benign
21	45476380	G	A	G45476380A	COL18A1	NM_030582.4(COL18A1):c.1368G>A:p.Ala456=	coding	Benign
21	45476389	C	A	C45476389A	COL18A1	NM_030582.4(COL18A1):c.1377C>A:p.Pro459=	coding	Benign
21	45476389	C	G	C45476389G	COL18A1	NM_030582.4(COL18A1):c.1377C>G:p.Pro459=	coding	Benign
21	45476398	G	T	G45476398T	COL18A1	NM_030582.4(COL18A1):c.1386G>T:p.Thr462=	coding	Benign
21	45476467	G	T	G45476467T	COL18A1	NM_030582.4(COL18A1):c.1455G>T:p.Val485=	coding	Benign
21	45477494	C	G	C45477494G	COL18A1	NM_030582.4(COL18A1):c.1545+7C>G	noncoding	Benign
21	45477753	G	A	G45477753A	COL18A1	NM_030582.4(COL18A1):c.1549G>A:p.Gly517Ser	coding	Benign/Likely_benign
21	45477887	G	A	G45477887A	COL18A1	NM_030582.4(COL18A1):c.1683G>A:p.Ala561=	coding	Benign
21	45477979	T	C	T45477979C	COL18A1	NM_030582.4(COL18A1):c.1761+14T>C	noncoding	Benign
21	45478329	C	G	C45478329G	COL18A1	NM_030582.4(COL18A1):c.1764C>G:p.Gly588=	coding	Benign
21	45479907	C	T	C45479907T	COL18A1	NM_030582.4(COL18A1):c.1794C>T:p.Asp598=	coding	Benign
21	45479928	C	T	C45479928T	COL18A1	NM_030582.4(COL18A1):c.1815C>T:p.Pro605=	coding	Benign
21	45479943	C	T	C45479943T	COL18A1	NM_030582.4(COL18A1):c.1830C>T:p.Asp610=	coding	Benign
21	45479958	C	A	C45479958A	COL18A1	NM_030582.4(COL18A1):c.1845C>A:p.Gly615=	coding	Benign
21	45480033	G	A	G45480033A	COL18A1	NM_030582.4(COL18A1):c.1852-37G>A	noncoding	Benign
21	45480148	G	A	G45480148A	COL18A1	NM_030582.4(COL18A1):c.1930G>A:p.Asp644Asn	coding	Benign
21	45480163	C	G	C45480163G	COL18A1	NM_030582.4(COL18A1):c.1938+7C>G	noncoding	Benign
21	45480419	C	G	C45480419G	COL18A1	NM_030582.4(COL18A1):c.1939-48C>G	noncoding	Benign
21	45480496	C	T	C45480496T	COL18A1	NM_030582.4(COL18A1):c.1968C>T:p.Phe656=	coding	Benign
21	45480756	C	T	C45480756T	COL18A1	NM_030582.4(COL18A1):c.2049C>T:p.Gly683=	coding	Benign
21	45482059	A	C	A45482059C	COL18A1	NM_030582.4(COL18A1):c.2214+34A>C	noncoding	Benign
21	45482789	G	A	G45482789A	COL18A1	NM_030582.4(COL18A1):c.2215-6G>A	noncoding	Benign/Likely_benign
21	45482803	A	G	A45482803G	COL18A1	NM_030582.4(COL18A1):c.2223A>G:p.Ala741=	coding	Benign
21	45487424	C	A	C45487424A	COL18A1	NM_030582.4(COL18A1):c.2374-23C>A	noncoding	Benign
21	45488441	T	C	T45488441C	COL18A1	NM_030582.4(COL18A1):c.2460T>C:p.Leu820=	coding	Benign
21	45489512	G	A	G45489512A	COL18A1	NM_030582.4(COL18A1):c.2490G>A:p.Pro830=	coding	Benign
21	45490296	G	A	G45490296A	COL18A1	NM_030582.4(COL18A1):c.2521G>A:p.Val841Ile	coding	Benign
21	45490313	C	T	C45490313T	COL18A1	NM_030582.4(COL18A1):c.2538C>T:p.Gly846=	coding	Benign
21	45490826	G	A	G45490826A	COL18A1	NM_030582.4(COL18A1):c.2572-10G>A	noncoding	Benign
21	45491274	C	G	C45491274G	COL18A1	NM_030582.4(COL18A1):c.2657C>G:p.Pro886Arg	coding	Benign/Likely_benign
21	45491328	G	A	G45491328A	COL18A1	NM_030582.4(COL18A1):c.2697+14G>A	noncoding	Benign
21	45492550	G	A	G45492550A	COL18A1	NM_030582.4(COL18A1):c.2713G>A:p.Val905Met	coding	Benign
21	45492695	G	A	G45492695A	COL18A1	NM_030582.4(COL18A1):c.2736G>A:p.Pro912=	coding	Benign
21	45493239	G	T	G45493239T	COL18A1	NM_030582.4(COL18A1):c.2817+14G>T	noncoding	Benign
21	45493551	G	A	G45493551A	COL18A1	NM_030582.4(COL18A1):c.2868G>A:p.Leu956=	coding	Benign/Likely_benign
21	45493563	G	C	G45493563C	COL18A1	NM_030582.4(COL18A1):c.2880G>C:p.Gln960His	coding	Benign
21	45493603	A	G	A45493603G	COL18A1	NM_030582.4(COL18A1):c.2892+28A>G	noncoding	Benign
21	45504408	G	A	G45504408A	COL18A1	NM_030582.4(COL18A1):c.3268-8G>A	noncoding	Benign/Likely_benign
21	45504469	C	T	C45504469T	COL18A1	NM_030582.4(COL18A1):c.3321C>T:p.Pro1107=	coding	Benign/Likely_benign
21	45504470	G	A	G45504470A	COL18A1	NM_030582.4(COL18A1):c.3322G>A:p.Gly1108Arg	coding	Benign
21	45504470	G	C	G45504470C	COL18A1	NM_030582.4(COL18A1):c.3322G>C:p.Gly1108Arg	coding	Benign
21	45504475	C	T	C45504475T	COL18A1	NM_030582.4(COL18A1):c.3327C>T:p.Gly1109=	coding	Benign
21	45504478	C	T	C45504478T	COL18A1	NM_030582.4(COL18A1):c.3330C>T:p.Gly1110=	coding	Benign/Likely_benign
21	45504503	G	A	G45504503A	COL18A1	NM_030582.4(COL18A1):c.3355G>A:p.Gly1119Ser	coding	Benign
21	45505244	A	C	A45505244C	COL18A1	NM_030582.4(COL18A1):c.3510A>C:p.Pro1170=	coding	Benign
21	45507498	A	T	A45507498T	COL18A1	NM_001379500.1(COL18A1):c.3217-63A>T	noncoding	Benign
21	45507575	A	G	A45507575G	COL18A1	NM_030582.4(COL18A1):c.3762A>G:p.Thr1254=	coding	Benign
21	45509341	G	A	G45509341A	COL18A1	NM_030582.4(COL18A1):c.3790-15G>A	noncoding	Benign
21	45509535	C	T	C45509535T	COL18A1	NM_030582.4(COL18A1):c.3960C>T:p.Tyr1320=	coding	Benign
21	45509553	G	A	G45509553A	COL18A1	NM_030582.4(COL18A1):c.3978G>A:p.Ala1326=	coding	Benign
21	45509639	C	G	C45509639G	COL18A1	NM_030582.4(COL18A1):c.4035+38C>G	noncoding	Benign
21	45510096	A	G	A45510096G	COL18A1	NM_030582.4(COL18A1):c.4059A>G:p.Ser1353=	coding	Benign
21	45510241	G	A	G45510241A	COL18A1	NM_030582.4(COL18A1):c.4204G>A:p.Val1402Met	coding	Benign/Likely_benign
21	45510249	C	T	C45510249T	COL18A1	NM_030582.4(COL18A1):c.4212C>T:p.Ile1404=	coding	Benign
21	45511195	G	A	G45511195A	COL18A1	NM_030582.4(COL18A1):c.4309G>A:p.Asp1437Asn	coding	Benign/Likely_benign
21	45511228	T	C	T45511228C	COL18A1	NM_030582.4(COL18A1):c.4349+2T>C	noncoding	Pathogenic
21	45512168	C	T	C45512168T	COL18A1	NM_030582.4(COL18A1):c.4350-20C>T	noncoding	Benign
21	45512201	G	T	G45512201T	COL18A1	NM_030582.4(COL18A1):c.4354G>T:p.Val1452Leu	coding	Benign/Likely_benign
21	45512404	G	A	G45512404A	COL18A1	NM_030582.4(COL18A1):c.*6G>A	noncoding	Benign
21	45512414	G	A	G45512414A	COL18A1	NM_030582.4(COL18A1):c.*16G>A	noncoding	Benign
21	45512469	G	A	G45512469A	COL18A1	NM_030582.4(COL18A1):c.*71G>A	noncoding	Benign
21	45512675	T	C	T45512675C	COL18A1	NM_194255.4(SLC19A1):c.*2983A>G	noncoding	Benign
21	45512704	G	C	G45512704C	COL18A1	NM_194255.4(SLC19A1):c.*2954C>G	noncoding	Benign
21	45512738	G	A	G45512738A	COL18A1	NM_194255.4(SLC19A1):c.*2920C>T	noncoding	Benign
21	45513250	G	C	G45513250C	COL18A1	NM_194255.4(SLC19A1):c.*2408C>G	noncoding	Benign
21	45513316	C	T	C45513316T	COL18A1	NM_194255.4(SLC19A1):c.*2342G>A	noncoding	Benign
21	45513527	A	C	A45513527C	COL18A1	NM_194255.4(SLC19A1):c.*2131T>G	noncoding	Benign
21	45525868	G	T	G45525868T	SLC19A1	NM_194255.4(SLC19A1):c.1242C>A:p.Ile414=	coding	Benign
21	45530762	G	T	G45530762T	SLC19A1	NM_194255.4(SLC19A1):c.1151+8C>A	noncoding	Benign
21	45530909	G	A	G45530909A	SLC19A1	NM_194255.4(SLC19A1):c.1012C>T:p.Leu338Phe	coding	Benign
21	45531554	G	A	G45531554A	SLC19A1	NM_194255.4(SLC19A1):c.784C>T:p.Leu262=	coding	Benign
21	45531990	C	G	C45531990G	SLC19A1	NM_194255.4(SLC19A1):c.348G>C:p.Val116=	coding	Benign
21	45532092	G	C	G45532092C	SLC19A1	NM_194255.4(SLC19A1):c.246C>G:p.Pro82=	coding	Benign
21	45537794	C	G	C45537794G	SLC19A1	NM_194255.4(SLC19A1):c.166G>C:p.Asp56His	coding	Benign
21	45896212	C	T	C45896212T	PCBP3	NM_020528.2(PCBP3):c.15C>T:p.Asp5=	coding	Benign
21	45941676	G	A	G45941676A	PCBP3	NM_020528.2(PCBP3):c.1086G>A:p.Thr362=	coding	Benign
21	45981786	C	G	C45981786G	COL6A1	NM_001848.2(COL6A1):c.-65C>G	noncoding	Benign
21	45981811	C	T	C45981811T	COL6A1	NM_001848.3(COL6A1):c.-40C>T	noncoding	Benign
21	45981846	C	G	C45981846G	COL6A1	NM_001848.2(COL6A1):c.-5C>G	noncoding	Benign
21	45981908	C	T	C45981908T	COL6A1	NM_001848.2(COL6A1):c.58C>T:p.Gln20Ter	coding	Pathogenic
21	45981967	G	A	G45981967A	COL6A1	NM_001848.2(COL6A1):c.97+20G>A	noncoding	Benign
21	45982420	C	T	C45982420T	COL6A1	NM_001848.2(COL6A1):c.98-214C>T	noncoding	Benign
21	45982641	C	G	C45982641G	COL6A1	NM_001848.2(COL6A1):c.105C>G:p.Pro35=	coding	Benign/Likely_benign
21	45984129	G	C	G45984129C	COL6A1	NM_001848.2(COL6A1):c.228-140G>C	noncoding	Benign
21	45984365	C	T	C45984365T	COL6A1	NM_001848.2(COL6A1):c.324C>T:p.Gly108=	coding	Benign/Likely_benign
21	45984388	G	A	G45984388A	COL6A1	NM_001848.3(COL6A1):c.347G>A:p.Ser116Asn	coding	Benign
21	45984403	A	G	A45984403G	COL6A1	NM_001848.2(COL6A1):c.362A>G:p.Lys121Arg	coding	Pathogenic
21	45984470	G	A	G45984470A	COL6A1	NM_001848.2(COL6A1):c.428+1G>A	coding	Pathogenic
21	45984483	A	G	A45984483G	COL6A1	NM_001848.2(COL6A1):c.428+14A>G	noncoding	Benign
21	45984508	C	G	C45984508G	COL6A1	NM_001848.2(COL6A1):c.428+39C>G	noncoding	Benign/Likely_benign
21	45984509	G	A	G45984509A	COL6A1	NM_001848.2(COL6A1):c.428+40G>A	noncoding	Benign
21	45986507	G	A	G45986507A	COL6A1	NM_001848.2(COL6A1):c.429-19G>A	noncoding	Benign
21	45986676	C	T	C45986676T	COL6A1	NM_001848.2(COL6A1):c.579C>T:p.Pro193=	coding	Benign/Likely_benign
21	45986698	C	A	C45986698A	COL6A1	NM_001848.2(COL6A1):c.588+13C>A	noncoding	Benign
21	45986722	A	G	A45986722G	COL6A1	NM_001848.2(COL6A1):c.588+37A>G	noncoding	Benign/Likely_benign
21	45986887	G	A	G45986887A	COL6A1	NM_001848.2(COL6A1):c.589-57G>A	noncoding	Benign
21	45987000	G	A	G45987000A	COL6A1	NM_001848.2(COL6A1):c.645G>A:p.Ala215=	coding	Benign/Likely_benign
21	45987104	C	T	C45987104T	COL6A1	NM_001848.2(COL6A1):c.717+32C>T	noncoding	Benign
21	45987448	C	T	C45987448T	COL6A1	NM_001848.2(COL6A1):c.739-51C>T	noncoding	Benign
21	45987481	C	T	C45987481T	COL6A1	NM_001848.2(COL6A1):c.739-18C>T	noncoding	Benign/Likely_benign
21	45987535	G	A	G45987535A	COL6A1	NM_001848.2(COL6A1):c.759+16G>A	noncoding	Benign
21	45987627	G	A	G45987627A	COL6A1	NM_001848.2(COL6A1):c.777G>A:p.Pro259=	coding	Benign/Likely_benign
21	45987655	G	A	G45987655A	COL6A1	NM_001848.3(COL6A1):c.804+1G>A	coding	Pathogenic
21	45989082	A	G	A45989082G	COL6A1	NM_001848.2(COL6A1):c.805-2A>G	noncoding	Pathogenic
21	45989085	G	A	G45989085A	COL6A1	NM_001848.3(COL6A1):c.806G>A:p.Gly269Glu	coding	Pathogenic
21	45989090	C	T	C45989090T	COL6A1	NM_001848.2(COL6A1):c.811C>T:p.Arg271Ter	coding	Pathogenic
21	45989093	G	C	G45989093C	COL6A1	NM_001848.2(COL6A1):c.814G>C:p.Gly272Arg	coding	Pathogenic
21	45989094	G	A	G45989094A	COL6A1	NM_001848.2(COL6A1):c.815G>A:p.Gly272Asp	coding	Pathogenic
21	45989102	G	T	G45989102T	COL6A1	NM_001848.2(COL6A1):c.823G>T:p.Gly275Trp	coding	Pathogenic
21	45989120	G	A	G45989120A	COL6A1	NM_001848.2(COL6A1):c.841G>A:p.Gly281Arg	coding	Pathogenic
21	45989121	G	A	G45989121A	COL6A1	NM_001848.2(COL6A1):c.842G>A:p.Gly281Glu	coding	Pathogenic
21	45989129	G	A	G45989129A	COL6A1	NM_001848.3(COL6A1):c.850G>A	coding	Pathogenic
21	45989199	C	T	C45989199T	COL6A1	NM_001848.2(COL6A1):c.858+62C>T	noncoding	Benign
21	45989325	G	C	G45989325C	COL6A1	NM_001848.2(COL6A1):c.858+188G>C	noncoding	Benign
21	45989588	C	T	C45989588T	COL6A1	NM_001848.2(COL6A1):c.859-20C>T	noncoding	Benign/Likely_benign
21	45989589	A	G	A45989589G	COL6A1	NM_001848.2(COL6A1):c.859-19A>G	noncoding	Benign
21	45989607	G	C	G45989607C	COL6A1	NM_001848.2(COL6A1):c.859-1G>C	noncoding	Pathogenic/Likely_pathogenic
21	45989608	G	A	G45989608A	COL6A1	NM_001848.2(COL6A1):c.859G>A:p.Gly287Arg	coding	Pathogenic/Likely_pathogenic
21	45989617	G	A	G45989617A	COL6A1	NM_001848.3(COL6A1):c.868G>A	coding	Pathogenic
21	45989617	G	C	G45989617C	COL6A1	NM_001848.2(COL6A1):c.868G>C:p.Gly290Arg	coding	Pathogenic
21	45989617	G	T	G45989617T	COL6A1	NM_001848.2(COL6A1):c.868G>T:p.Gly290Trp	coding	Pathogenic
21	45989618	G	A	G45989618A	COL6A1	NM_001848.3(COL6A1):c.869G>A:p.Gly290Glu	coding	Pathogenic
21	45989626	G	A	G45989626A	COL6A1	NM_001848.2(COL6A1):c.877G>A:p.Gly293Arg	coding	Pathogenic/Likely_pathogenic
21	45989627	G	A	G45989627A	COL6A1	NM_001848.2(COL6A1):c.878G>A:p.Gly293Glu	coding	Pathogenic
21	45989636	G	T	G45989636T	COL6A1	NM_001848.2(COL6A1):c.887G>T:p.Gly296Val	coding	Pathogenic
21	45989644	G	A	G45989644A	COL6A1	NM_001848.3(COL6A1):c.895G>A:p.Gly299Arg	coding	Pathogenic
21	45989653	G	T	G45989653T	COL6A1	NM_001848.2(COL6A1):c.903+1G>T	coding	Pathogenic
21	45989665	C	A	C45989665A	COL6A1	NM_001848.3(COL6A1):c.903+13C>A	noncoding	Benign
21	45989666	C	A	C45989666A	COL6A1	NM_001848.2(COL6A1):c.903+14C>A	noncoding	Benign
21	45989750	A	G	A45989750G	COL6A1	NM_001848.2(COL6A1):c.904-2A>G	noncoding	Pathogenic/Likely_pathogenic
21	45989752	G	A	G45989752A	COL6A1	NM_001848.2(COL6A1):c.904G>A:p.Gly302Arg	coding	Pathogenic/Likely_pathogenic
21	45989752	G	C	G45989752C	COL6A1	NM_001848.2(COL6A1):c.904G>C:p.Gly302Arg	coding	Pathogenic
21	45989753	G	A	G45989753A	COL6A1	NM_001848.2(COL6A1):c.905G>A:p.Gly302Glu	coding	Pathogenic
21	45989779	G	A	G45989779A	COL6A1	NM_001848.2(COL6A1):c.930+1G>A	coding	Pathogenic
21	45989967	C	T	C45989967T	COL6A1	NM_001848.2(COL6A1):c.930+189C>T	noncoding	Pathogenic
21	45990257	G	A	G45990257A	COL6A1	NM_001848.2(COL6A1):c.931-1G>A	noncoding	Pathogenic
21	45990257	G	C	G45990257C	COL6A1	NM_001848.2(COL6A1):c.931-1G>C	noncoding	Pathogenic
21	45990259	G	A	G45990259A	COL6A1	NM_001848.2(COL6A1):c.932G>A:p.Gly311Asp	coding	Pathogenic/Likely_pathogenic
21	45990284	G	T	G45990284T	COL6A1	NM_001848.2(COL6A1):c.957G>T:p.Lys319Asn	coding	Pathogenic
21	45990285	G	A	G45990285A	COL6A1	NM_001848.2(COL6A1):c.957+1G>A	coding	Pathogenic
21	45990286	T	C	T45990286C	COL6A1	NM_001848.2(COL6A1):c.957+2T>C	noncoding	Pathogenic
21	45990361	G	A	G45990361A	COL6A1	NM_001848.2(COL6A1):c.958-17G>A	noncoding	Benign/Likely_benign
21	45990376	A	G	A45990376G	COL6A1	NM_001848.2(COL6A1):c.958-2A>G	noncoding	Pathogenic
21	45990401	C	T	C45990401T	COL6A1	NM_001848.2(COL6A1):c.981C>T:p.Ile327=	coding	Benign/Likely_benign
21	45990417	G	A	G45990417A	COL6A1	NM_001848.2(COL6A1):c.997G>A:p.Val333Met	coding	Benign/Likely_benign
21	45990423	G	A	G45990423A	COL6A1	NM_001848.2(COL6A1):c.1002+1G>A	coding	Pathogenic
21	45990423	G	T	G45990423T	COL6A1	NM_001848.2(COL6A1):c.1002+1G>T	coding	Pathogenic
21	45990424	T	G	T45990424G	COL6A1	NM_001848.2(COL6A1):c.1002+2T>G	noncoding	Pathogenic
21	45990459	A	G	A45990459G	COL6A1	NM_001848.2(COL6A1):c.1002+37A>G	noncoding	Benign
21	45990465	A	G	A45990465G	COL6A1	NM_001848.2(COL6A1):c.1002+43A>G	noncoding	Benign
21	45990467	T	C	T45990467C	COL6A1	NM_001848.2(COL6A1):c.1002+45T>C	noncoding	Benign
21	45990472	C	A	C45990472A	COL6A1	NM_001848.2(COL6A1):c.1002+50C>A	noncoding	Benign/Likely_benign
21	45990472	C	T	C45990472T	COL6A1	NM_001848.2(COL6A1):c.1002+50C>T	noncoding	Benign
21	45990477	T	C	T45990477C	COL6A1	NM_001848.2(COL6A1):c.1002+55T>C	noncoding	Benign
21	45990712	T	G	T45990712G	COL6A1	NM_001848.2(COL6A1):c.1003-61T>G	noncoding	Benign
21	45990771	A	C	A45990771C	COL6A1	NM_001848.2(COL6A1):c.1003-2A>C	noncoding	Pathogenic
21	45990771	A	G	A45990771G	COL6A1	NM_001848.2(COL6A1):c.1003-2A>G	noncoding	Pathogenic
21	45990772	G	A	G45990772A	COL6A1	NM_001848.2(COL6A1):c.1003-1G>A	noncoding	Pathogenic
21	45990772	G	T	G45990772T	COL6A1	NM_001848.2(COL6A1):c.1003-1G>T	noncoding	Pathogenic
21	45990791	G	T	G45990791T	COL6A1	NM_001848.2(COL6A1):c.1021G>T:p.Gly341Cys	coding	Pathogenic/Likely_pathogenic
21	45990792	G	A	G45990792A	COL6A1	NM_001848.2(COL6A1):c.1022G>A:p.Gly341Asp	coding	Pathogenic
21	45990792	G	T	G45990792T	COL6A1	NM_001848.2(COL6A1):c.1022G>T:p.Gly341Val	coding	Pathogenic
21	45990826	C	T	C45990826T	COL6A1	NM_001848.2(COL6A1):c.1056C>T:p.Asp352=	coding	Benign/Likely_benign
21	45990827	G	A	G45990827A	COL6A1	NM_001848.3(COL6A1):c.1056+1G>A	coding	Pathogenic
21	45990827	G	T	G45990827T	COL6A1	NM_001848.3(COL6A1):c.1056+1G>T	coding	Pathogenic
21	45990828	T	C	T45990828C	COL6A1	NM_001848.3(COL6A1):c.1056+2T>C	noncoding	Pathogenic
21	45990829	A	C	A45990829C	COL6A1	NM_001848.3(COL6A1):c.1056+3A>C	noncoding	Pathogenic
21	45991017	T	C	T45991017C	COL6A1	NM_001848.2(COL6A1):c.1095T>C:p.Gly365=	coding	Benign
21	45991080	C	T	C45991080T	COL6A1	NM_001848.2(COL6A1):c.1119+39C>T	noncoding	Benign/Likely_benign
21	45991230	T	C	T45991230C	COL6A1	NM_001848.2(COL6A1):c.1119+189T>C	noncoding	Benign
21	45991250	A	G	A45991250G	COL6A1	NM_001848.2(COL6A1):c.1119+209A>G	noncoding	Benign
21	45991302	G	A	G45991302A	COL6A1	NM_001848.2(COL6A1):c.1119+261G>A	noncoding	Benign
21	45991998	G	A	G45991998A	COL6A1	NM_001848.2(COL6A1):c.1120-12G>A	noncoding	Benign/Likely_benign
21	45992057	A	C	A45992057C	COL6A1	NM_001848.3(COL6A1):c.1167A>C:p.Gly389=	coding	Benign
21	45992069	C	T	C45992069T	COL6A1	NM_001848.2(COL6A1):c.1179C>T:p.Asp393=	coding	Benign/Likely_benign
21	45992075	G	A	G45992075A	COL6A1	NM_001848.2(COL6A1):c.1182+3G>A	noncoding	Benign/Likely_benign
21	45992597	G	A	G45992597A	COL6A1	NM_001848.2(COL6A1):c.1273-151G>A	noncoding	Benign
21	45992610	G	A	G45992610A	COL6A1	NM_001848.2(COL6A1):c.1273-138G>A	noncoding	Benign
21	45992740	C	T	C45992740T	COL6A1	NM_001848.2(COL6A1):c.1273-8C>T	noncoding	Benign
21	45992789	G	A	G45992789A	COL6A1	NM_001848.2(COL6A1):c.1314G>A:p.Thr438=	coding	Benign
21	45992791	G	A	G45992791A	COL6A1	NM_001848.2(COL6A1):c.1316G>A:p.Arg439Gln	coding	Benign
21	45992830	G	C	G45992830C	COL6A1	NM_001848.2(COL6A1):c.1335+20G>C	noncoding	Benign/Likely_benign
21	45992837	A	C	A45992837C	COL6A1	NM_001848.2(COL6A1):c.1335+27A>C	noncoding	Benign
21	45992926	C	T	C45992926T	COL6A1	NM_001848.2(COL6A1):c.1335+116C>T	noncoding	Benign
21	45994015	G	T	G45994015T	COL6A1	NM_001848.2(COL6A1):c.1336-152G>T	noncoding	Benign
21	45994152	C	T	C45994152T	COL6A1	NM_001848.2(COL6A1):c.1336-15C>T	noncoding	Benign/Likely_benign
21	45997292	A	G	A45997292G	COL6A1	NM_001848.2(COL6A1):c.1399-129A>G	noncoding	Benign
21	45997310	A	G	A45997310G	COL6A1	NM_001848.2(COL6A1):c.1399-111A>G	noncoding	Benign
21	45997389	T	C	T45997389C	COL6A1	NM_001848.2(COL6A1):c.1399-32T>C	noncoding	Benign
21	45997465	G	A	G45997465A	COL6A1	NM_001848.2(COL6A1):c.1443G>A:p.Glu481=	coding	Benign/Likely_benign
21	45997501	C	A	C45997501A	COL6A1	NM_001848.2(COL6A1):c.1461+18C>A	noncoding	Benign
21	45997664	A	G	A45997664G	COL6A1	NM_001848.2(COL6A1):c.1462-36A>G	noncoding	Benign
21	45997713	C	T	C45997713T	COL6A1	NM_001848.2(COL6A1):c.1475C>T:p.Ala492Val	coding	Benign/Likely_benign
21	45997744	G	C	G45997744C	COL6A1	NM_001848.2(COL6A1):c.1506G>C:p.Pro502=	coding	Benign/Likely_benign
21	45997756	T	C	T45997756C	COL6A1	NM_001848.2(COL6A1):c.1518T>C:p.Gly506=	coding	Benign/Likely_benign
21	45997777	G	A	G45997777A	COL6A1	NM_001848.2(COL6A1):c.1524+15G>A	noncoding	Benign/Likely_benign
21	45997781	G	C	G45997781C	COL6A1	NM_001848.2(COL6A1):c.1524+19G>C	noncoding	Benign
21	45998061	A	G	A45998061G	COL6A1	NM_001848.2(COL6A1):c.1525-60A>G	noncoding	Benign
21	45998320	G	C	G45998320C	COL6A1	NM_001848.2(COL6A1):c.1576-78G>C	noncoding	Benign
21	45998399	G	T	G45998399T	COL6A1	NM_001848.2(COL6A1):c.1577G>T:p.Gly526Val	coding	Pathogenic
21	45998434	G	A	G45998434A	COL6A1	NM_001848.2(COL6A1):c.1611+1G>A	coding	Pathogenic
21	45998650	T	C	T45998650C	COL6A1	NM_001848.2(COL6A1):c.1611+217T>C	noncoding	Benign
21	45998887	G	A	G45998887A	COL6A1	NM_001848.2(COL6A1):c.1612-10G>A	noncoding	Benign/Likely_benign
21	45998891	C	T	C45998891T	COL6A1	NM_001848.2(COL6A1):c.1612-6C>T	noncoding	Benign/Likely_benign
21	45998929	C	T	C45998929T	COL6A1	NM_001848.2(COL6A1):c.1644C>T:p.Asp548=	coding	Benign/Likely_benign
21	45999098	C	T	C45999098T	COL6A1	NM_001848.2(COL6A1):c.1675-55C>T	noncoding	Benign
21	45999171	C	T	C45999171T	COL6A1	NM_001848.2(COL6A1):c.1693C>T:p.Arg565Ter	coding	Pathogenic
21	45999268	C	T	C45999268T	COL6A1	NM_001848.2(COL6A1):c.1740+50C>T	noncoding	Benign/Likely_benign
21	45999363	G	T	G45999363T	COL6A1	NM_001848.2(COL6A1):c.1740+145G>T	noncoding	Benign
21	45999606	G	A	G45999606A	COL6A1	NM_001848.2(COL6A1):c.1741-51G>A	noncoding	Benign
21	45999644	G	A	G45999644A	COL6A1	NM_001848.2(COL6A1):c.1741-13G>A	noncoding	Benign
21	45999689	G	A	G45999689A	COL6A1	NM_001848.2(COL6A1):c.1773G>A:p.Pro591=	coding	Benign
21	45999692	C	T	C45999692T	COL6A1	NM_001848.2(COL6A1):c.1776C>T:p.Asp592=	coding	Benign/Likely_benign
21	45999783	C	T	C45999783T	COL6A1	NM_001848.2(COL6A1):c.1776+91C>T	noncoding	Benign
21	45999833	A	G	A45999833G	COL6A1	NM_001848.2(COL6A1):c.1776+141A>G	noncoding	Benign
21	45999856	G	A	G45999856A	COL6A1	NM_001848.2(COL6A1):c.1776+164G>A	noncoding	Benign
21	45999880	T	C	T45999880C	COL6A1	NM_001848.2(COL6A1):c.1776+188T>C	noncoding	Benign
21	45999890	C	T	C45999890T	COL6A1	NM_001848.2(COL6A1):c.1776+198C>T	noncoding	Benign
21	46000102	G	A	G46000102A	COL6A1	NM_001848.2(COL6A1):c.1777-229G>A	noncoding	Benign
21	46000392	T	G	T46000392G	COL6A1	NM_001848.2(COL6A1):c.1813+25T>G	noncoding	Benign
21	46000504	C	T	C46000504T	COL6A1	NM_001848.2(COL6A1):c.1813+137C>T	noncoding	Benign
21	46000753	C	G	C46000753G	COL6A1	NM_001848.2(COL6A1):c.1814-6C>G	noncoding	Benign
21	46000809	G	C	G46000809C	COL6A1	NM_001848.2(COL6A1):c.1822+42G>C	noncoding	Benign
21	46000812	C	G	C46000812G	COL6A1	NM_001848.2(COL6A1):c.1822+45C>G	noncoding	Benign
21	46000812	C	T	C46000812T	COL6A1	NM_001848.2(COL6A1):c.1822+45C>T	noncoding	Benign
21	46000847	G	A	G46000847A	COL6A1	NM_001848.2(COL6A1):c.1822+80G>A	noncoding	Benign
21	46000855	A	G	A46000855G	COL6A1	NM_001848.2(COL6A1):c.1822+88A>G	noncoding	Benign
21	46000952	C	T	C46000952T	COL6A1	NM_001848.2(COL6A1):c.1822+185C>T	noncoding	Benign
21	46000998	G	A	G46000998A	COL6A1	NM_001848.2(COL6A1):c.1822+231G>A	noncoding	Benign
21	46001054	G	T	G46001054T	COL6A1	NM_001848.2(COL6A1):c.1823-199G>T	noncoding	Benign
21	46001057	A	G	A46001057G	COL6A1	NM_001848.2(COL6A1):c.1823-196A>G	noncoding	Benign
21	46001222	C	T	C46001222T	COL6A1	NM_001848.2(COL6A1):c.1823-31C>T	noncoding	Benign
21	46001240	C	T	C46001240T	COL6A1	NM_001848.2(COL6A1):c.1823-13C>T	noncoding	Benign
21	46001245	G	A	G46001245A	COL6A1	NM_001848.2(COL6A1):c.1823-8G>A	noncoding	Benign
21	46001263	C	T	C46001263T	COL6A1	NM_001848.2(COL6A1):c.1833C>T:p.Cys611=	coding	Benign/Likely_benign
21	46001380	G	A	G46001380A	COL6A1	NM_001848.3(COL6A1):c.1950G>A:p.Leu650=	coding	Benign
21	46001401	C	T	C46001401T	COL6A1	NM_001848.2(COL6A1):c.1956+15C>T	noncoding	Benign
21	46001879	C	T	C46001879T	COL6A1	NM_001848.2(COL6A1):c.1957-82C>T	noncoding	Benign
21	46001883	G	A	G46001883A	COL6A1	NM_001848.2(COL6A1):c.1957-78G>A	noncoding	Benign
21	46001950	C	T	C46001950T	COL6A1	NM_001848.2(COL6A1):c.1957-11C>T	noncoding	Benign
21	46001956	C	T	C46001956T	COL6A1	NM_001848.2(COL6A1):c.1957-5C>T	noncoding	Benign
21	46001981	C	G	C46001981G	COL6A1	NM_001848.2(COL6A1):c.1977C>G:p.Tyr659Ter	coding	Pathogenic
21	46002046	T	C	T46002046C	COL6A1	NM_001848.2(COL6A1):c.2042T>C:p.Ile681Thr	coding	Benign
21	46002053	C	T	C46002053T	COL6A1	NM_001848.2(COL6A1):c.2049C>T:p.Asn683=	coding	Benign/Likely_benign
21	46002065	C	A	C46002065A	COL6A1	NM_001848.2(COL6A1):c.2061C>A:p.Leu687=	coding	Benign/Likely_benign
21	46002208	T	C	T46002208C	COL6A1	NM_001848.2(COL6A1):c.2067-10T>C	noncoding	Benign/Likely_benign
21	46002273	C	T	C46002273T	COL6A1	NM_001848.2(COL6A1):c.2122C>T:p.Gln708Ter	coding	Pathogenic
21	46002281	G	A	G46002281A	COL6A1	NM_001848.2(COL6A1):c.2130G>A:p.Thr710=	coding	Benign/Likely_benign
21	46002371	G	A	G46002371A	COL6A1	NM_001848.2(COL6A1):c.2220G>A:p.Pro740=	coding	Benign/Likely_benign
21	46002407	G	C	G46002407C	COL6A1	NM_001848.2(COL6A1):c.2250+6G>C	noncoding	Benign/Likely_benign
21	46002498	C	T	C46002498T	COL6A1	NM_001848.2(COL6A1):c.2251-29C>T	noncoding	Benign
21	46002624	G	A	G46002624A	COL6A1	NM_001848.2(COL6A1):c.2348G>A:p.Arg783Gln	coding	Benign/Likely_benign
21	46002700	G	T	G46002700T	COL6A1	NM_001848.2(COL6A1):c.2424G>T:p.Gln808His	coding	Benign/Likely_benign
21	46002725	A	G	A46002725G	COL6A1	NM_001848.2(COL6A1):c.2434+15A>G	noncoding	Benign
21	46002730	G	A	G46002730A	COL6A1	NM_001848.2(COL6A1):c.2434+20G>A	noncoding	Benign
21	46002765	G	A	G46002765A	COL6A1	NM_001848.2(COL6A1):c.2434+55G>A	noncoding	Benign
21	46002798	C	T	C46002798T	COL6A1	NM_001848.2(COL6A1):c.2434+88C>T	noncoding	Benign
21	46003101	C	T	C46003101T	COL6A1	NM_001848.2(COL6A1):c.2435-19C>T	noncoding	Benign
21	46003118	A	G	A46003118G	COL6A1	NM_001848.2(COL6A1):c.2435-2A>G	noncoding	Pathogenic
21	46003126	A	G	A46003126G	COL6A1	NM_001848.2(COL6A1):c.2441A>G:p.Lys814Arg	coding	Benign/Likely_benign
21	46003319	C	T	C46003319T	COL6A1	NM_001848.2(COL6A1):c.2465-72C>T	noncoding	Benign
21	46003395	G	A	G46003395A	COL6A1	NM_001848.2(COL6A1):c.2469G>A:p.Thr823=	coding	Benign/Likely_benign
21	46003443	C	T	C46003443T	COL6A1	NM_001848.2(COL6A1):c.2517C>T:p.Ser839=	coding	Benign/Likely_benign
21	46003475	G	A	G46003475A	COL6A1	NM_001848.2(COL6A1):c.2549G>A:p.Arg850His	coding	Benign
21	46003548	G	A	G46003548A	COL6A1	NM_001848.2(COL6A1):c.2622G>A:p.Ala874=	coding	Benign/Likely_benign
21	46003564	G	A	G46003564A	COL6A1	NM_001848.2(COL6A1):c.2638G>A:p.Gly880Ser	coding	Benign
21	46003593	G	A	G46003593A	COL6A1	NM_001848.2(COL6A1):c.2667G>A:p.Ala889=	coding	Benign
21	46003595	C	T	C46003595T	COL6A1	NM_001848.2(COL6A1):c.2669C>T:p.Ser890Leu	coding	Benign
21	46003662	C	T	C46003662T	COL6A1	NM_001848.2(COL6A1):c.2736C>T:p.Asp912=	coding	Benign
21	46003668	C	T	C46003668T	COL6A1	NM_001848.2(COL6A1):c.2742C>T:p.Thr914=	coding	Benign/Likely_benign
21	46003684	C	T	C46003684T	COL6A1	NM_001848.2(COL6A1):c.2758C>T:p.Leu920=	coding	Benign/Likely_benign
21	46003707	C	T	C46003707T	COL6A1	NM_001848.2(COL6A1):c.2781C>T:p.Tyr927=	coding	Benign
21	46003709	G	A	G46003709A	COL6A1	NM_001848.2(COL6A1):c.2783G>A:p.Arg928His	coding	Benign
21	46003722	C	T	C46003722T	COL6A1	NM_001848.2(COL6A1):c.2796C>T:p.Ser932=	coding	Benign
21	46003791	C	T	C46003791T	COL6A1	NM_001848.2(COL6A1):c.2865C>T:p.Ile955=	coding	Benign/Likely_benign
21	46003792	G	A	G46003792A	COL6A1	NM_001848.2(COL6A1):c.2866G>A:p.Glu956Lys	coding	Benign/Likely_benign
21	46003812	C	T	C46003812T	COL6A1	NM_001848.3(COL6A1):c.2886C>T:p.Ala962=	coding	Benign
21	46003940	G	A	G46003940A	COL6A1	NM_001848.3(COL6A1):c.3014G>A:p.Arg1005His	coding	Benign
21	46003955	A	G	A46003955G	COL6A1	NM_001848.2(COL6A1):c.3029A>G:p.Gln1010Arg	coding	Benign/Likely_benign
21	46003980	C	T	C46003980T	COL6A1	NM_001848.2(COL6A1):c.3054C>T:p.His1018=	coding	Benign/Likely_benign
21	46004004	G	A	G46004004A	COL6A1	NM_001848.2(COL6A1):c.3078G>A:p.Ala1026=	coding	Benign/Likely_benign
21	46004100	C	T	C46004100T	COL6A1	NM_001848.2(COL6A1):c.*87C>T	noncoding	Benign
21	46004158	C	T	C46004158T	COL6A1	NM_001848.2(COL6A1):c.*145C>T	noncoding	Benign
21	46004273	A	G	A46004273G	COL6A1	NM_001848.2(COL6A1):c.*260A>G	noncoding	Benign
21	46004307	G	A	G46004307A	COL6A1	NM_001848.2(COL6A1):c.*294G>A	noncoding	Benign
21	46004315	G	T	G46004315T	COL6A1	NM_001848.2(COL6A1):c.*302G>T	noncoding	Benign
21	46004392	C	A	C46004392A	COL6A1	NM_001848.2(COL6A1):c.*379C>A	noncoding	Benign
21	46004432	A	G	A46004432G	COL6A1	NM_001848.2(COL6A1):c.*419A>G	noncoding	Benign
21	46004454	G	A	G46004454A	COL6A1	NM_001848.2(COL6A1):c.*441G>A	noncoding	Benign
21	46004588	A	G	A46004588G	COL6A1	NM_001848.2(COL6A1):c.*575A>G	noncoding	Benign
21	46004742	C	T	C46004742T	COL6A1	NM_001848.2(COL6A1):c.*729C>T	noncoding	Benign
21	46004810	C	T	C46004810T	COL6A1	NM_001848.2(COL6A1):c.*797C>T	noncoding	Benign
21	46004900	C	T	C46004900T	COL6A1	NM_001848.2(COL6A1):c.*887C>T	noncoding	Benign
21	46004936	G	A	G46004936A	COL6A1	NM_001848.3(COL6A1):c.*923G>A	noncoding	Benign
21	46111301	C	T	C46111301T	COL6A2	NM_001849.3(COL6A2):c.-27-149C>T	noncoding	Benign
21	46111361	G	A	G46111361A	COL6A2	NM_001849.3(COL6A2):c.-27-89G>A	noncoding	Benign
21	46111557	G	A	G46111557A	COL6A2	NM_001849.3(COL6A2):c.81G>A:p.Ser27=	coding	Benign/Likely_benign
21	46111593	T	C	T46111593C	COL6A2	NM_001849.3(COL6A2):c.115+2T>C	noncoding	Pathogenic/Likely_pathogenic
21	46111945	G	A	G46111945A	COL6A2	NM_001849.3(COL6A2):c.116-34G>A	noncoding	Benign/Likely_benign
21	46112001	C	T	C46112001T	COL6A2	NM_001849.3(COL6A2):c.138C>T:p.His46=	coding	Benign/Likely_benign
21	46112107	C	T	C46112107T	COL6A2	NM_001849.3(COL6A2):c.244C>T:p.Gln82Ter	coding	Pathogenic
21	46112128	C	T	C46112128T	COL6A2	NM_001849.3(COL6A2):c.265C>T:p.Gln89Ter	coding	Pathogenic
21	46112179	G	A	G46112179A	COL6A2	NM_001849.3(COL6A2):c.316G>A:p.Glu106Lys	coding	Benign/Likely_benign
21	46112346	C	T	C46112346T	COL6A2	NM_001849.3(COL6A2):c.483C>T:p.Thr161=	coding	Benign/Likely_benign
21	46112362	G	A	G46112362A	COL6A2	NM_001849.3(COL6A2):c.499G>A:p.Gly167Ser	coding	Benign/Likely_benign
21	46112373	C	T	C46112373T	COL6A2	NM_001849.3(COL6A2):c.510C>T:p.Cys170=	coding	Benign/Likely_benign
21	46112391	G	A	G46112391A	COL6A2	NM_001849.3(COL6A2):c.528G>A:p.Gln176=	coding	Benign/Likely_benign
21	46112526	C	T	C46112526T	COL6A2	NM_001849.3(COL6A2):c.663C>T:p.Pro221=	coding	Benign
21	46112542	G	A	G46112542A	COL6A2	NM_001849.3(COL6A2):c.679G>A:p.Asp227Asn	coding	Benign/Likely_benign
21	46112578	G	C	G46112578C	COL6A2	NM_001849.4(COL6A2):c.714+1G>C	coding	Pathogenic
21	46112586	C	T	C46112586T	COL6A2	NM_001849.3(COL6A2):c.714+9C>T	noncoding	Benign/Likely_benign
21	46112606	G	A	G46112606A	COL6A2	NM_001849.3(COL6A2):c.714+29G>A	noncoding	Benign
21	46112622	C	T	C46112622T	COL6A2	NM_001849.3(COL6A2):c.714+45C>T	noncoding	Benign
21	46112630	C	T	C46112630T	COL6A2	NM_001849.3(COL6A2):c.714+53C>T	noncoding	Benign
21	46112639	A	G	A46112639G	COL6A2	NM_001849.3(COL6A2):c.714+62A>G	noncoding	Benign
21	46114006	A	G	A46114006G	COL6A2	NM_001849.3(COL6A2):c.736-2A>G	noncoding	Pathogenic/Likely_pathogenic
21	46114007	G	C	G46114007C	COL6A2	NM_001849.3(COL6A2):c.736-1G>C	noncoding	Pathogenic
21	46114057	G	A	G46114057A	COL6A2	NM_001849.3(COL6A2):c.785G>A:p.Gly262Asp	coding	Pathogenic
21	46114066	G	A	G46114066A	COL6A2	NM_001849.4(COL6A2):c.794G>A:p.Gly265Glu	coding	Pathogenic
21	46114074	G	A	G46114074A	COL6A2	NM_001849.3(COL6A2):c.801+1G>A	coding	Pathogenic/Likely_pathogenic
21	46114074	G	T	G46114074T	COL6A2	NM_001849.3(COL6A2):c.801+1G>T	coding	Pathogenic
21	46115622	T	G	T46115622G	COL6A2	NM_001849.3(COL6A2):c.802-250T>G	noncoding	Benign
21	46115870	A	G	A46115870G	COL6A2	NM_001849.3(COL6A2):c.802-2A>G	noncoding	Pathogenic
21	46115881	G	A	G46115881A	COL6A2	NM_001849.3(COL6A2):c.811G>A:p.Gly271Ser	coding	Pathogenic
21	46115882	G	A	G46115882A	COL6A2	NM_001849.3(COL6A2):c.812G>A:p.Gly271Asp	coding	Pathogenic
21	46115882	G	T	G46115882T	COL6A2	NM_001849.3(COL6A2):c.812G>T:p.Gly271Val	coding	Pathogenic
21	46115902	G	A	G46115902A	COL6A2	NM_001849.3(COL6A2):c.832G>A:p.Glu278Lys	coding	Benign/Likely_benign
21	46115908	G	C	G46115908C	COL6A2	NM_001849.3(COL6A2):c.838G>C:p.Gly280Arg	coding	Pathogenic/Likely_pathogenic
21	46115917	G	C	G46115917C	COL6A2	NM_001849.4(COL6A2):c.847G>C:p.Gly283Arg	coding	Pathogenic
21	46115918	G	A	G46115918A	COL6A2	NM_001849.3(COL6A2):c.848G>A:p.Gly283Glu	coding	Pathogenic/Likely_pathogenic
21	46115926	G	A	G46115926A	COL6A2	NM_001849.3(COL6A2):c.855+1G>A	coding	Pathogenic
21	46115926	G	C	G46115926C	COL6A2	NM_001849.3(COL6A2):c.855+1G>C	coding	Pathogenic/Likely_pathogenic
21	46115927	T	G	T46115927G	COL6A2	NM_001849.3(COL6A2):c.855+2T>G	noncoding	Pathogenic
21	46116007	A	C	A46116007C	COL6A2	NM_001849.3(COL6A2):c.856-2A>C	noncoding	Pathogenic
21	46116007	A	G	A46116007G	COL6A2	NM_001849.4(COL6A2):c.856-2A>G	noncoding	Pathogenic
21	46116010	G	A	G46116010A	COL6A2	NM_001849.3(COL6A2):c.857G>A:p.Gly286Glu	coding	Pathogenic/Likely_pathogenic
21	46116018	G	T	G46116018T	COL6A2	NM_001849.3(COL6A2):c.865G>T:p.Gly289Cys	coding	Pathogenic
21	46116027	G	C	G46116027C	COL6A2	NM_001849.3(COL6A2):c.874G>C:p.Gly292Arg	coding	Pathogenic
21	46116028	G	T	G46116028T	COL6A2	NM_001849.3(COL6A2):c.875G>T:p.Gly292Val	coding	Pathogenic
21	46116036	G	A	G46116036A	COL6A2	NM_001849.3(COL6A2):c.883G>A:p.Gly295Arg	coding	Pathogenic
21	46116045	G	C	G46116045C	COL6A2	NM_001849.4(COL6A2):c.892G>C:p.Gly298Arg	coding	Pathogenic
21	46116054	G	A	G46116054A	COL6A2	NM_001849.3(COL6A2):c.900+1G>A	coding	Pathogenic
21	46116054	G	C	G46116054C	COL6A2	NM_001849.3(COL6A2):c.900+1G>C	coding	Pathogenic
21	46116266	C	T	C46116266T	COL6A2	NM_001849.3(COL6A2):c.901-111C>T	noncoding	Benign
21	46116377	G	A	G46116377A	COL6A2	NM_001849.3(COL6A2):c.901G>A:p.Gly301Ser	coding	Pathogenic
21	46116377	G	T	G46116377T	COL6A2	NM_001849.4(COL6A2):c.901G>T:p.Gly301Cys	coding	Pathogenic
21	46116378	G	A	G46116378A	COL6A2	NM_001849.3(COL6A2):c.902G>A:p.Gly301Asp	coding	Pathogenic
21	46116632	C	T	C46116632T	COL6A2	NM_001849.3(COL6A2):c.928-19C>T	noncoding	Benign
21	46116768	A	G	A46116768G	COL6A2	NM_001849.3(COL6A2):c.955-2A>G	noncoding	Pathogenic
21	46117398	A	C	A46117398C	COL6A2	NM_001849.3(COL6A2):c.1000-2A>C	noncoding	Pathogenic/Likely_pathogenic
21	46117398	A	G	A46117398G	COL6A2	NM_001849.3(COL6A2):c.1000-2A>G	noncoding	Pathogenic
21	46117399	G	T	G46117399T	COL6A2	NM_001849.3(COL6A2):c.1000-1G>T	noncoding	Pathogenic
21	46117454	G	A	G46117454A	COL6A2	NM_001849.3(COL6A2):c.1053+1G>A	coding	Pathogenic
21	46117454	G	C	G46117454C	COL6A2	NM_001849.3(COL6A2):c.1053+1G>C	coding	Pathogenic
21	46117774	A	C	A46117774C	COL6A2	NM_001849.3(COL6A2):c.1054-100A>C	noncoding	Benign
21	46117872	A	G	A46117872G	COL6A2	NM_001849.3(COL6A2):c.1054-2A>G	noncoding	Pathogenic/Likely_pathogenic
21	46117916	C	T	C46117916T	COL6A2	NM_001849.3(COL6A2):c.1096C>T:p.Arg366Ter	coding	Pathogenic
21	46117958	C	T	C46117958T	COL6A2	NM_001849.3(COL6A2):c.1116+22C>T	noncoding	Benign/Likely_benign
21	46117968	G	A	G46117968A	COL6A2	NM_001849.3(COL6A2):c.1116+32G>A	noncoding	Benign
21	46118136	G	A	G46118136A	COL6A2	NM_001849.3(COL6A2):c.1116+200G>A	noncoding	Benign
21	46118157	G	A	G46118157A	COL6A2	NM_001849.3(COL6A2):c.1116+221G>A	noncoding	Benign
21	46118558	C	G	C46118558G	COL6A2	NM_001849.3(COL6A2):c.1117-56C>G	noncoding	Benign
21	46118600	G	A	G46118600A	COL6A2	NM_001849.4(COL6A2):c.1117-14G>A	noncoding	Benign
21	46118604	A	G	A46118604G	COL6A2	NM_001849.3(COL6A2):c.1117-10A>G	noncoding	Pathogenic
21	46118637	C	T	C46118637T	COL6A2	NM_001849.3(COL6A2):c.1140C>T:p.Arg380=	coding	Benign/Likely_benign
21	46118658	C	T	C46118658T	COL6A2	NM_001849.3(COL6A2):c.1161C>T:p.Ile387=	coding	Benign/Likely_benign
21	46118777	G	T	G46118777T	COL6A2	NM_001849.3(COL6A2):c.1179+101G>T	noncoding	Benign
21	46119029	G	C	G46119029C	COL6A2	NM_001849.3(COL6A2):c.1180-1G>C	noncoding	Pathogenic
21	46119046	G	A	G46119046A	COL6A2	NM_001849.3(COL6A2):c.1196G>A:p.Ser399Asn	coding	Benign
21	46119065	T	C	T46119065C	COL6A2	NM_001849.3(COL6A2):c.1215T>C:p.Pro405=	coding	Benign/Likely_benign
21	46119101	C	T	C46119101T	COL6A2	NM_001849.3(COL6A2):c.1251C>T:p.Arg417=	coding	Benign/Likely_benign
21	46119619	T	C	T46119619C	COL6A2	NM_001849.3(COL6A2):c.1270-169T>C	noncoding	Benign
21	46119812	A	T	A46119812T	COL6A2	NM_001849.3(COL6A2):c.1294A>T:p.Lys432Ter	coding	Pathogenic
21	46119876	A	G	A46119876G	COL6A2	NM_001849.3(COL6A2):c.1332+26A>G	noncoding	Benign
21	46120136	C	T	C46120136T	COL6A2	NM_001849.3(COL6A2):c.1332+286C>T	noncoding	Benign
21	46120140	T	G	T46120140G	COL6A2	NM_001849.3(COL6A2):c.1332+290T>G	noncoding	Benign
21	46120143	T	C	T46120143C	COL6A2	NM_001849.3(COL6A2):c.1332+293T>C	noncoding	Benign
21	46120272	C	T	C46120272T	COL6A2	NM_001849.3(COL6A2):c.1333-243C>T	noncoding	Benign
21	46120286	C	T	C46120286T	COL6A2	NM_001849.3(COL6A2):c.1333-229C>T	noncoding	Benign
21	46120317	A	C	A46120317C	COL6A2	NM_001849.3(COL6A2):c.1333-198A>C	noncoding	Benign
21	46120346	C	T	C46120346T	COL6A2	NM_001849.3(COL6A2):c.1333-169C>T	noncoding	Benign
21	46120435	C	T	C46120435T	COL6A2	NM_001849.3(COL6A2):c.1333-80C>T	noncoding	Benign
21	46120507	T	C	T46120507C	COL6A2	NM_001849.3(COL6A2):c.1333-8T>C	noncoding	Benign
21	46120659	G	A	G46120659A	COL6A2	NM_001849.3(COL6A2):c.1395+82G>A	noncoding	Benign
21	46120811	G	A	G46120811A	COL6A2	NM_001849.3(COL6A2):c.1395+234G>A	noncoding	Benign
21	46120928	G	C	G46120928C	COL6A2	NM_001849.3(COL6A2):c.1396-133G>C	noncoding	Benign
21	46121060	G	A	G46121060A	COL6A2	NM_001849.3(COL6A2):c.1396-1G>A	noncoding	Pathogenic
21	46121067	C	T	C46121067T	COL6A2	NM_001849.3(COL6A2):c.1402C>T:p.Arg468Ter	coding	Pathogenic
21	46121124	G	A	G46121124A	COL6A2	NM_001849.3(COL6A2):c.1458+1G>A	coding	Pathogenic
21	46121388	A	G	A46121388G	COL6A2	NM_001849.3(COL6A2):c.1459-168A>G	noncoding	Benign
21	46121554	A	G	A46121554G	COL6A2	NM_001849.3(COL6A2):c.1459-2A>G	noncoding	Pathogenic
21	46121639	A	G	A46121639G	COL6A2	NM_001849.3(COL6A2):c.1521+21A>G	noncoding	Benign
21	46121830	A	G	A46121830G	COL6A2	NM_001849.3(COL6A2):c.1521+212A>G	noncoding	Benign
21	46122072	T	C	T46122072C	COL6A2	NM_001849.3(COL6A2):c.1522-36T>C	noncoding	Benign
21	46122107	G	A	G46122107A	COL6A2	NM_001849.3(COL6A2):c.1522-1G>A	noncoding	Pathogenic
21	46122138	C	T	C46122138T	COL6A2	NM_001849.3(COL6A2):c.1552C>T:p.Pro518Ser	coding	Benign/Likely_benign
21	46122146	C	G	C46122146G	COL6A2	NM_001849.3(COL6A2):c.1560C>G:p.Pro520=	coding	Benign/Likely_benign
21	46122147	C	T	C46122147T	COL6A2	NM_001849.3(COL6A2):c.1561C>T:p.Arg521Ter	coding	Pathogenic/Likely_pathogenic
21	46122159	G	A	G46122159A	COL6A2	NM_001849.3(COL6A2):c.1572+1G>A	coding	Pathogenic
21	46122161	G	A	G46122161A	COL6A2	NM_001849.3(COL6A2):c.1572+3G>A	noncoding	Benign/Likely_benign
21	46122306	C	T	C46122306T	COL6A2	NM_001849.3(COL6A2):c.1572+148C>T	noncoding	Benign
21	46122464	C	T	C46122464T	COL6A2	NM_001849.3(COL6A2):c.1573-32C>T	noncoding	Benign
21	46122712	G	A	G46122712A	COL6A2	NM_001849.3(COL6A2):c.1609-163G>A	noncoding	Benign
21	46122720	T	C	T46122720C	COL6A2	NM_001849.3(COL6A2):c.1609-155T>C	noncoding	Benign
21	46122865	C	T	C46122865T	COL6A2	NM_001849.3(COL6A2):c.1609-10C>T	noncoding	Benign
21	46122880	C	T	C46122880T	COL6A2	NM_001849.3(COL6A2):c.1614C>T:p.Gly538=	coding	Benign/Likely_benign
21	46122881	C	T	C46122881T	COL6A2	NM_001849.3(COL6A2):c.1615C>T:p.Arg539Ter	coding	Pathogenic/Likely_pathogenic
21	46122946	C	T	C46122946T	COL6A2	NM_001849.3(COL6A2):c.1671+9C>T	noncoding	Benign/Likely_benign
21	46122947	A	G	A46122947G	COL6A2	NM_001849.3(COL6A2):c.1671+10A>G	noncoding	Benign
21	46124394	T	C	T46124394C	COL6A2	NM_001849.3(COL6A2):c.1672-257T>C	noncoding	Benign
21	46124474	T	C	T46124474C	COL6A2	NM_001849.3(COL6A2):c.1672-177T>C	noncoding	Benign
21	46124614	G	T	G46124614T	COL6A2	NM_001849.3(COL6A2):c.1672-37G>T	noncoding	Benign
21	46124627	C	G	C46124627G	COL6A2	NM_001849.3(COL6A2):c.1672-24C>G	noncoding	Benign
21	46124639	G	A	G46124639A	COL6A2	NM_001849.3(COL6A2):c.1672-12G>A	noncoding	Benign/Likely_benign
21	46124685	G	A	G46124685A	COL6A2	NM_001849.3(COL6A2):c.1706G>A:p.Arg569Gln	coding	Benign/Likely_benign
21	46124748	A	G	A46124748G	COL6A2	NM_001849.3(COL6A2):c.1734+35A>G	noncoding	Benign
21	46124813	G	A	G46124813A	COL6A2	NM_001849.3(COL6A2):c.1735-72G>A	noncoding	Benign
21	46124855	A	G	A46124855G	COL6A2	NM_001849.3(COL6A2):c.1735-30A>G	noncoding	Benign/Likely_benign
21	46124924	G	A	G46124924A	COL6A2	NM_001849.3(COL6A2):c.1770+4G>A	noncoding	Benign
21	46125107	G	A	G46125107A	COL6A2	NM_001849.3(COL6A2):c.1771-159G>A	noncoding	Benign
21	46125241	A	G	A46125241G	COL6A2	NM_001849.3(COL6A2):c.1771-25A>G	noncoding	Benign
21	46125265	G	A	G46125265A	COL6A2	NM_001849.4(COL6A2):c.1771-1G>A	noncoding	Pathogenic
21	46125265	G	T	G46125265T	COL6A2	NM_001849.3(COL6A2):c.1771-1G>T	noncoding	Pathogenic
21	46125396	T	C	T46125396C	COL6A2	NM_001849.3(COL6A2):c.1817-69T>C	noncoding	Benign
21	46125432	C	T	C46125432T	COL6A2	NM_001849.3(COL6A2):c.1817-33C>T	noncoding	Benign
21	46125462	C	G	C46125462G	COL6A2	NM_001849.4(COL6A2):c.1817-3C>G	noncoding	Pathogenic
21	46125509	G	A	G46125509A	COL6A2	NM_001849.3(COL6A2):c.1861G>A:p.Asp621Asn	coding	Pathogenic
21	46125547	G	A	G46125547A	COL6A2	NM_001849.3(COL6A2):c.1899G>A:p.Leu633=	coding	Benign/Likely_benign
21	46125574	C	G	C46125574G	COL6A2	NM_001849.4(COL6A2):c.1926C>G:p.Val642=	coding	Benign
21	46125593	G	A	G46125593A	COL6A2	NM_001849.3(COL6A2):c.1945G>A:p.Ala649Thr	coding	Benign/Likely_benign
21	46125762	G	C	G46125762C	COL6A2	NM_001849.3(COL6A2):c.1970-23G>C	noncoding	Benign/Likely_benign
21	46125817	G	T	G46125817T	COL6A2	NM_001849.3(COL6A2):c.2002G>T:p.Glu668Ter	coding	Pathogenic
21	46125854	G	A	G46125854A	COL6A2	NM_001849.3(COL6A2):c.2039G>A:p.Arg680His	coding	Benign
21	46125909	G	A	G46125909A	COL6A2	NM_001849.3(COL6A2):c.2094G>A:p.Ala698=	coding	Benign
21	46125912	C	T	C46125912T	COL6A2	NM_001849.3(COL6A2):c.2097C>T:p.Gly699=	coding	Benign
21	46125951	C	T	C46125951T	COL6A2	NM_001849.3(COL6A2):c.2136C>T:p.Asp712=	coding	Benign/Likely_benign
21	46125975	C	G	C46125975G	COL6A2	NM_001849.3(COL6A2):c.2160C>G:p.Arg720=	coding	Benign/Likely_benign
21	46125978	G	A	G46125978A	COL6A2	NM_001849.3(COL6A2):c.2163G>A:p.Gln721=	coding	Benign
21	46125999	G	A	G46125999A	COL6A2	NM_001849.3(COL6A2):c.2184G>A:p.Val728=	coding	Benign
21	46126035	T	C	T46126035C	COL6A2	NM_001849.3(COL6A2):c.2220T>C:p.Asp740=	coding	Benign/Likely_benign
21	46126144	T	C	T46126144C	COL6A2	NM_001849.3(COL6A2):c.2329T>C:p.Cys777Arg	coding	Pathogenic/Likely_pathogenic
21	46126146	C	T	C46126146T	COL6A2	NM_001849.3(COL6A2):c.2331C>T:p.Cys777=	coding	Benign/Likely_benign
21	46126147	G	A	G46126147A	COL6A2	NM_001849.3(COL6A2):c.2332G>A:p.Asp778Asn	coding	Benign/Likely_benign
21	46126166	G	A	G46126166A	COL6A2	NM_001849.4(COL6A2):c.2351G>A:p.Arg784His	coding	Benign/Likely_benign
21	46126238	G	A	G46126238A	COL6A2	NM_001849.3(COL6A2):c.2422+1G>A	coding	Pathogenic
21	46126349	C	A	C46126349A	COL6A2	NM_001849.3(COL6A2):c.2422+112C>A	noncoding	Benign
21	46126420	T	C	T46126420C	COL6A2	NM_001849.3(COL6A2):c.2423-83T>C	noncoding	Benign
21	46126468	C	A	C46126468A	COL6A2	NM_001849.3(COL6A2):c.2423-35C>A	noncoding	Benign
21	46126492	C	T	C46126492T	COL6A2	NM_001849.3(COL6A2):c.2423-11C>T	noncoding	Benign/Likely_benign
21	46126535	C	T	C46126535T	COL6A2	NM_001849.3(COL6A2):c.2455C>T:p.Gln819Ter	coding	Pathogenic
21	46128641	A	C	A46128641C	COL6A2	NM_001849.3(COL6A2):c.2461+2100A>C	noncoding	Benign
21	46129496	C	T	C46129496T	COL6A2	NM_058174.3(COL6A2):c.*5C>T	coding	Benign
21	46129596	G	C	G46129596C	COL6A2	NM_001849.3(COL6A2):c.2462-2358G>C	coding	Benign
21	46129643	A	G	A46129643G	COL6A2	NM_001849.3(COL6A2):c.2462-2311A>G	coding	Benign
21	46129655	T	C	T46129655C	COL6A2	NM_001849.3(COL6A2):c.2462-2299T>C	coding	Benign
21	46129699	C	T	C46129699T	COL6A2	NM_001849.3(COL6A2):c.2462-2255C>T	coding	Benign
21	46129715	T	A	T46129715A	COL6A2	NM_001849.3(COL6A2):c.2462-2239T>A	coding	Benign
21	46131750	T	C	T46131750C	COL6A2	NM_001849.3(COL6A2):c.2462-204T>C	noncoding	Benign
21	46131919	C	T	C46131919T	COL6A2	NM_001849.3(COL6A2):c.2462-35C>T	noncoding	Benign
21	46131995	G	A	G46131995A	COL6A2	NM_001849.3(COL6A2):c.2503G>A:p.Val835Ile	coding	Benign/Likely_benign
21	46132050	G	A	G46132050A	COL6A2	NM_001849.4(COL6A2):c.2558G>A:p.Arg853Gln	coding	Benign/Likely_benign
21	46132084	G	A	G46132084A	COL6A2;FTCD	NM_001849.3(COL6A2):c.2592G>A:p.Thr864=	coding	Benign/Likely_benign
21	46132091	C	T	C46132091T	COL6A2	NM_001849.3(COL6A2):c.2599C>T:p.Arg867Trp	coding	Benign/Likely_benign
21	46132092	G	A	G46132092A	COL6A2	NM_001849.3(COL6A2):c.2600G>A:p.Arg867Gln	coding	Benign/Likely_benign
21	46132097	G	A	G46132097A	COL6A2	NM_001849.3(COL6A2):c.2605G>A:p.Asp869Asn	coding	Benign/Likely_benign
21	46132099	C	T	C46132099T	COL6A2	NM_001849.3(COL6A2):c.2607C>T:p.Asp869=	coding	Benign/Likely_benign
21	46132102	C	T	C46132102T	COL6A2	NM_001849.3(COL6A2):c.2610C>T:p.Asp870=	coding	Benign/Likely_benign
21	46132103	G	A	G46132103A	COL6A2	NM_001849.3(COL6A2):c.2611G>A:p.Asp871Asn	coding	Pathogenic/Likely_pathogenic
21	46132118	C	A	C46132118A	COL6A2	NM_001849.3(COL6A2):c.2626C>A:p.Arg876Ser	coding	Pathogenic
21	46132189	G	C	G46132189C	COL6A2	NM_001849.3(COL6A2):c.2697G>C:p.Thr899=	coding	Benign
21	46132189	G	T	G46132189T	COL6A2;FTCD	NM_001849.3(COL6A2):c.2697G>T:p.Thr899=	coding	Benign/Likely_benign
21	46132216	A	G	A46132216G	COL6A2;FTCD	NM_001849.3(COL6A2):c.2724A>G:p.Thr908=	coding	Benign
21	46132288	G	A	G46132288A	COL6A2	NM_001849.3(COL6A2):c.2796G>A:p.Pro932=	coding	Benign/Likely_benign
21	46132295	G	A	G46132295A	COL6A2;FTCD	NM_001849.3(COL6A2):c.2803G>A:p.Gly935Arg	coding	Benign/Likely_benign
21	46132348	G	A	G46132348A	COL6A2	NM_001849.3(COL6A2):c.2856G>A:p.Thr952=	coding	Benign/Likely_benign
21	46132363	G	A	G46132363A	COL6A2	NM_001849.3(COL6A2):c.2871G>A:p.Leu957=	coding	Benign/Likely_benign
21	46132372	G	A	G46132372A	COL6A2	NM_001849.3(COL6A2):c.2880G>A:p.Ser960=	coding	Benign/Likely_benign
21	46132378	C	T	C46132378T	COL6A2	NM_001849.3(COL6A2):c.2886C>T:p.His962=	coding	Benign
21	46132436	A	G	A46132436G	COL6A2	NM_001849.3(COL6A2):c.2944A>G:p.Met982Val	coding	Benign/Likely_benign
21	46132471	C	T	C46132471T	COL6A2;FTCD	NM_001849.3(COL6A2):c.2979C>T:p.Arg993=	coding	Benign/Likely_benign
21	46132472	G	A	G46132472A	COL6A2;FTCD	NM_001849.3(COL6A2):c.2980G>A:p.Ala994Thr	coding	Benign/Likely_benign
21	46132475	G	A	G46132475A	COL6A2	NM_001849.3(COL6A2):c.2983G>A:p.Ala995Thr	coding	Benign/Likely_benign
21	46132495	C	A	C46132495A	COL6A2	NM_001849.3(COL6A2):c.3003C>A:p.Asp1001Glu	coding	Benign/Likely_benign
21	46132509	C	T	C46132509T	COL6A2	NM_001849.3(COL6A2):c.3017C>T:p.Ala1006Val	coding	Benign/Likely_benign
21	46132535	A	C	A46132535C	COL6A2;FTCD	NM_001849.3(COL6A2):c.3043A>C:p.Ile1015Leu	coding	Benign/Likely_benign
21	46132597	G	A	G46132597A	COL6A2	NM_001849.3(COL6A2):c.*45G>A	noncoding	Benign/Likely_benign
21	46132618	C	G	C46132618G	COL6A2	NM_001849.3(COL6A2):c.*66C>G	noncoding	Benign/Likely_benign
21	46132640	G	C	G46132640C	COL6A2	NM_001849.3(COL6A2):c.*88G>C	noncoding	Benign/Likely_benign
21	46132657	C	T	C46132657T	COL6A2	NM_001849.3(COL6A2):c.*105C>T	noncoding	Benign/Likely_benign
21	46132658	G	A	G46132658A	COL6A2	NM_001849.3(COL6A2):c.*106G>A	noncoding	Benign/Likely_benign
21	46132668	T	C	T46132668C	FTCD;COL6A2	NM_001849.3(COL6A2):c.*116T>C	noncoding	Benign/Likely_benign
21	46132671	A	G	A46132671G	COL6A2;FTCD	NM_001849.3(COL6A2):c.*119A>G	noncoding	Benign/Likely_benign
21	46132710	C	T	C46132710T	COL6A2;FTCD	NM_001849.3(COL6A2):c.*158C>T	noncoding	Benign
21	46132855	G	A	G46132855A	COL6A2	NC_000021.9:g.46132855G>A	noncoding	Benign
21	46136968	G	A	G46136968A	FTCD	NM_206965.2(FTCD):c.*19C>T	noncoding	Benign
21	46137006	A	T	A46137006T	FTCD	NM_206965.2(FTCD):c.1607T>A:p.Leu536Ter	coding	Pathogenic
21	46137308	G	A	G46137308A	COL6A2;FTCD	NM_206965.2(FTCD):c.1470C>T:p.Gly490=	coding	Benign
21	46138559	G	C	G46138559C	FTCD	NM_206965.2(FTCD):c.1392C>G:p.Ala464=	coding	Benign
21	46138614	C	T	C46138614T	FTCD	NM_206965.2(FTCD):c.1337G>A:p.Arg446Gln	coding	Benign
21	46138638	G	A	G46138638A	FTCD	NM_206965.2(FTCD):c.1313C>T:p.Ala438Val	coding	Benign
21	46145457	G	T	G46145457T	FTCD	NM_206965.2(FTCD):c.1220C>A:p.Thr407Lys	coding	Benign
21	46145509	T	C	T46145509C	FTCD	NM_206965.2(FTCD):c.1168A>G:p.Thr390Ala	coding	Benign
21	46145866	G	C	G46145866C	FTCD	NM_206965.2(FTCD):c.1050C>G:p.Arg350=	coding	Benign
21	46146315	G	A	G46146315A	FTCD	NM_206965.2(FTCD):c.919C>T:p.Leu307=	coding	Benign
21	46150104	G	A	G46150104A	FTCD	NM_206965.2(FTCD):c.906+15C>T	noncoding	Benign
21	46150129	C	G	C46150129G	FTCD	NM_206965.2(FTCD):c.896G>C:p.Arg299Pro	coding	Pathogenic
21	46150399	G	A	G46150399A	FTCD	NM_206965.2(FTCD):c.763C>T:p.Arg255Ter	coding	Pathogenic
21	46151896	T	A	T46151896A	FTCD	NM_206965.2(FTCD):c.452A>T:p.Lys151Met	coding	Benign
21	46151931	C	T	C46151931T	FTCD	NM_206965.2(FTCD):c.417G>A:p.Pro139=	coding	Benign
21	46151941	C	T	C46151941T	FTCD	NM_206965.2(FTCD):c.407G>A:p.Arg136Gln	coding	Benign
21	46151945	G	A	G46151945A	FTCD	NM_206965.2(FTCD):c.403C>T:p.Arg135Cys	coding	Pathogenic
21	46151966	C	T	C46151966T	FTCD	NM_206965.2(FTCD):c.382G>A:p.Glu128Lys	coding	Benign
21	46151970	G	A	G46151970A	FTCD	NM_206965.2(FTCD):c.378C>T:p.Tyr126=	coding	Benign
21	46151970	G	C	G46151970C	FTCD	NM_206965.2(FTCD):c.378C>G:p.Tyr126Ter	coding	Pathogenic
21	46153007	G	A	G46153007A	FTCD	NM_206965.2(FTCD):c.267C>T:p.Asp89=	coding	Benign
21	46154195	G	A	G46154195A	FTCD	NM_206965.2(FTCD):c.192C>T:p.Asn64=	coding	Benign
21	46154293	C	A	C46154293A	FTCD	NM_206965.2(FTCD):c.94G>T:p.Gly32Cys	coding	Benign
21	46155458	C	T	C46155458T	FTCD	NM_206965.2(FTCD):c.54+12G>A	noncoding	Benign
21	46155488	C	T	C46155488T	FTCD	NM_206965.2(FTCD):c.36G>A:p.Ser12=	coding	Benign
21	46161509	C	T	C46161509T	SPATC1L	NM_001142854.2(SPATC1L):c.893G>A:p.Ser298Asn	coding	Benign
21	46161594	C	A	C46161594A	SPATC1L	NM_001142854.2(SPATC1L):c.808G>T:p.Val270Leu	coding	Benign
21	46161921	C	T	C46161921T	SPATC1L	NM_001142854.2(SPATC1L):c.691G>A:p.Glu231Lys	coding	Benign
21	46162035	C	T	C46162035T	SPATC1L	NM_001142854.2(SPATC1L):c.577G>A:p.Ala193Thr	coding	Benign
21	46191189	G	T	G46191189T	LSS	NM_002340.6(LSS):c.2114C>A:p.Thr705Lys	coding	Pathogenic
21	46194529	A	G	A46194529G	LSS	NM_002340.6(LSS):c.1950T>C:p.His650=	coding	Benign
21	46194555	A	C	A46194555C	LSS	NM_002340.6(LSS):c.1924T>G:p.Leu642Val	coding	Benign
21	46194592	C	A	C46194592A	LSS	NM_002340.6(LSS):c.1887G>T:p.Trp629Cys	coding	Pathogenic
21	46194614	C	T	C46194614T	LSS	NM_002340.6(LSS):c.1865G>A:p.Arg622Gln	coding	Benign
21	46195705	G	A	G46195705A	LSS	NM_002340.6(LSS):c.1788C>T:p.Phe596=	coding	Benign
21	46195731	C	T	C46195731T	LSS	NM_002340.6(LSS):c.1762G>A:p.Gly588Ser	coding	Pathogenic
21	46195752	A	G	A46195752G	LSS	NM_002340.6(LSS):c.1741T>C:p.Trp581Arg	coding	Pathogenic
21	46206688	G	A	G46206688A	LSS	NM_002340.6(LSS):c.1548C>T:p.Asn516=	coding	Benign
21	46206689	T	C	T46206689C	LSS	NM_002340.6(LSS):c.1547A>G:p.Asn516Ser	coding	Pathogenic
21	46210683	C	T	C46210683T	LSS	NM_002340.6(LSS):c.1194+5G>A	noncoding	Pathogenic
21	46210710	A	G	A46210710G	LSS	NM_002340.6(LSS):c.1172T>C:p.Phe391Ser	coding	Pathogenic
21	46213736	A	G	A46213736G	LSS	NM_002340.6(LSS):c.1109+2T>C	noncoding	Pathogenic
21	46213822	A	C	A46213822C	LSS	NM_002340.6(LSS):c.1025T>G:p.Ile342Ser	coding	Pathogenic
21	46215262	T	C	T46215262C	LSS	NM_002340.6(LSS):c.929A>G:p.His310Arg	coding	Benign
21	46215713	C	G	C46215713G	LSS	NM_002340.6(LSS):c.864G>C:p.Pro288=	coding	Benign
21	46215717	G	A	G46215717A	LSS	NM_002340.6(LSS):c.860C>T:p.Thr287Met	coding	Benign
21	46215731	G	A	G46215731A	LSS	NM_002340.6(LSS):c.846C>T:p.Pro282=	coding	Benign
21	46215772	C	T	C46215772T	LSS	NM_002340.6(LSS):c.805G>A:p.Ala269Thr	coding	Benign
21	46215799	G	A	G46215799A	LSS	NM_002340.6(LSS):c.784-6C>T	noncoding	Benign
21	46216393	C	G	C46216393G	LSS	NM_002340.6(LSS):c.779G>C:p.Arg260Pro	coding	Pathogenic
21	46216420	G	A	G46216420A	LSS	NM_002340.6(LSS):c.752C>T:p.Ala251Val	coding	Benign
21	46216429	A	G	A46216429G	LSS	NM_002340.6(LSS):c.743T>C:p.Leu248Pro	coding	Pathogenic
21	46219498	T	A	T46219498A	LSS	NM_002340.6(LSS):c.625A>T:p.Asn209Tyr	coding	Pathogenic
21	46219578	C	G	C46219578G	LSS	NM_002340.6(LSS):c.551-6G>C	noncoding	Benign
21	46221880	C	T	C46221880T	LSS	NM_002340.6(LSS):c.524G>A:p.Arg175Gln	coding	Benign
21	46222635	C	T	C46222635T	LSS	NM_002340.6(LSS):c.423G>A:p.Trp141Ter	coding	Pathogenic
21	46222695	G	A	G46222695A	LSS	NM_002340.6(LSS):c.363C>T:p.Ala121=	coding	Benign
21	46227567	G	C	G46227567C	LSS	NM_002340.6(LSS):c.304C>G:p.Leu102Val	coding	Pathogenic
21	46228522	C	T	C46228522T	LSS	NM_002340.6(LSS):c.92G>A:p.Arg31Lys	coding	Benign
21	46228579	C	T	C46228579T	LSS	NM_002340.6(LSS):c.35G>A:p.Gly12Asp	coding	Pathogenic
21	46236886	C	T	C46236886T	MCM3AP	NM_003906.5(MCM3AP):c.5727G>A:p.Val1909=	coding	Benign/Likely_benign
21	46266025	A	G	A46266025G	MCM3AP	NM_003906.5(MCM3AP):c.2931T>C:p.His977=	coding	Benign
21	46266105	A	G	A46266105G	MCM3AP	NM_003906.5(MCM3AP):c.2851T>C:p.Ser951Pro	coding	Pathogenic
21	46266123	A	C	A46266123C	MCM3AP	NM_003906.5(MCM3AP):c.2833T>G:p.Leu945Val	coding	Benign
21	46267028	C	T	C46267028T	MCM3AP	NM_003906.5(MCM3AP):c.2743G>A:p.Glu915Lys	coding	Pathogenic
21	46267104	G	T	G46267104T	MCM3AP	NM_003906.5(MCM3AP):c.2667C>A:p.Tyr889Ter	coding	Pathogenic
21	46267138	C	T	C46267138T	MCM3AP	NM_003906.5(MCM3AP):c.2633G>A:p.Arg878His	coding	Pathogenic
21	46270420	A	G	A46270420G	MCM3AP	NM_003906.5(MCM3AP):c.2609T>C:p.Leu870Ser	coding	Pathogenic
21	46270429	G	T	G46270429T	MCM3AP	NM_003906.5(MCM3AP):c.2600C>A:p.Ala867Asp	coding	Pathogenic
21	46284339	G	C	G46284339C	MCM3AP	NM_003906.5(MCM3AP):c.948C>G:p.Ser316=	coding	Benign
21	46284982	G	A	G46284982A	YBEY	NM_003906.5(MCM3AP):c.305C>T:p.Ser102Leu	coding	Benign
21	46287136	T	A	T46287136A	YBEY	NM_001314025.2(YBEY):c.210+13T>A	noncoding	Benign
21	46324213	G	T	G46324213T	PCNT	NM_006031.6(PCNT):c.-16G>T	noncoding	Benign
21	46324288	C	T	C46324288T	PCNT	NM_006031.6(PCNT):c.54+6C>T	noncoding	Benign
21	46326464	G	C	G46326464C	PCNT	NM_006031.6(PCNT):c.142G>C:p.Ala48Pro	coding	Benign
21	46326518	G	T	G46326518T	PCNT	NM_006031.6(PCNT):c.196G>T:p.Gly66Ter	coding	Pathogenic/Likely_pathogenic
21	46346120	T	G	T46346120G	PCNT	NM_006031.6(PCNT):c.640-8T>G	noncoding	Benign
21	46346146	G	T	G46346146T	PCNT	NM_006031.6(PCNT):c.658G>T:p.Glu220Ter	coding	Pathogenic/Likely_pathogenic
21	46346199	T	G	T46346199G	PCNT	NM_006031.6(PCNT):c.711T>G:p.His237Gln	coding	Benign
21	46346225	T	C	T46346225C	PCNT	NM_006031.6(PCNT):c.720+17T>C	noncoding	Benign
21	46346318	A	C	A46346318C	PCNT	NM_006031.6(PCNT):c.720+110A>C	noncoding	Benign
21	46346736	G	A	G46346736A	PCNT	NM_006031.6(PCNT):c.721-7G>A	noncoding	Benign
21	46346926	G	A	G46346926A	PCNT	NM_006031.6(PCNT):c.904G>A:p.Glu302Lys	coding	Benign
21	46347513	G	A	G46347513A	PCNT	NM_006031.6(PCNT):c.1032+1G>A	coding	Pathogenic
21	46351142	C	T	C46351142T	PCNT	NM_006031.6(PCNT):c.1345-287C>T	noncoding	Benign
21	46353115	C	T	C46353115T	PCNT	NM_006031.6(PCNT):c.1468C>T:p.Gln490Ter	coding	Pathogenic
21	46353154	C	T	C46353154T	PCNT	NM_006031.6(PCNT):c.1507C>T:p.Gln503Ter	coding	Pathogenic
21	46353189	C	A	C46353189A	PCNT	NM_006031.6(PCNT):c.1542C>A:p.Ser514=	coding	Benign
21	46353189	C	T	C46353189T	PCNT	NM_006031.6(PCNT):c.1542C>T:p.Ser514=	coding	Benign
21	46353263	C	T	C46353263T	PCNT	NM_006031.6(PCNT):c.1616C>T:p.Thr539Ile	coding	Benign
21	46353985	A	G	A46353985G	PCNT	NM_006031.6(PCNT):c.1680-2A>G	noncoding	Pathogenic
21	46355533	C	T	C46355533T	PCNT	NM_006031.6(PCNT):c.1843C>T:p.Gln615Ter	coding	Pathogenic
21	46356791	G	A	G46356791A	PCNT	NM_006031.6(PCNT):c.1937-183G>A	noncoding	Benign
21	46356813	G	A	G46356813A	PCNT	NM_006031.6(PCNT):c.1937-161G>A	noncoding	Benign
21	46357148	G	A	G46357148A	PCNT	NM_006031.6(PCNT):c.2111G>A:p.Gly704Glu	coding	Benign
21	46357307	A	G	A46357307G	PCNT	NM_006031.6(PCNT):c.2154+116A>G	noncoding	Benign
21	46363732	C	T	C46363732T	PCNT	NM_006031.6(PCNT):c.2407C>T:p.Gln803Ter	coding	Pathogenic
21	46363740	C	G	C46363740G	PCNT	NM_006031.6(PCNT):c.2415C>G:p.Ala805=	coding	Benign
21	46363881	T	C	T46363881C	PCNT	NM_006031.6(PCNT):c.2556T>C:p.Ala852=	coding	Benign
21	46363891	G	A	G46363891A	PCNT	NM_006031.6(PCNT):c.2566G>A:p.Val856Met	coding	Benign
21	46366534	T	A	T46366534A	PCNT	NM_006031.6(PCNT):c.2610-50T>A	noncoding	Benign
21	46366534	T	G	T46366534G	PCNT	NM_006031.6(PCNT):c.2610-50T>G	noncoding	Benign
21	46366579	C	T	C46366579T	PCNT	NM_006031.6(PCNT):c.2610-5C>T	noncoding	Benign
21	46366609	A	G	A46366609G	PCNT	NM_006031.6(PCNT):c.2635A>G:p.Thr879Ala	coding	Benign
21	46366702	C	T	C46366702T	PCNT	NM_006031.6(PCNT):c.2728C>T:p.Gln910Ter	coding	Pathogenic
21	46366902	C	G	C46366902G	PCNT	NM_006031.6(PCNT):c.2928C>G:p.Leu976=	coding	Benign
21	46367032	A	T	A46367032T	PCNT	NM_006031.6(PCNT):c.3058A>T:p.Lys1020Ter	coding	Pathogenic
21	46367083	G	T	G46367083T	PCNT	NM_006031.6(PCNT):c.3109G>T:p.Glu1037Ter	coding	Pathogenic
21	46367087	T	C	T46367087C	PCNT	NM_006031.6(PCNT):c.3113T>C:p.Val1038Ala	coding	Benign
21	46385858	T	C	T46385858C	PCNT	NM_006031.6(PCNT):c.3339T>C:p.Ser1113=	coding	Benign
21	46385909	G	A	G46385909A	PCNT	NM_006031.6(PCNT):c.3390G>A:p.Arg1130=	coding	Benign
21	46385922	C	A	C46385922A	PCNT	NM_006031.6(PCNT):c.3403C>A:p.Arg1135=	coding	Benign/Likely_benign
21	46385979	G	T	G46385979T	PCNT	NM_006031.6(PCNT):c.3460G>T:p.Glu1154Ter	coding	Pathogenic
21	46388764	C	T	C46388764T	PCNT	NM_006031.6(PCNT):c.3487C>T:p.Arg1163Cys	coding	Benign
21	46388857	G	A	G46388857A	PCNT	NM_006031.6(PCNT):c.3580G>A:p.Ala1194Thr	coding	Benign
21	46389206	G	A	G46389206A	PCNT	NM_006031.6(PCNT):c.3615G>A:p.Ala1205=	coding	Benign
21	46389348	G	T	G46389348T	PCNT	NM_006031.6(PCNT):c.3757G>T:p.Glu1253Ter	coding	Pathogenic
21	46389431	G	C	G46389431C	PCNT	NM_006031.6(PCNT):c.3840G>C:p.Gln1280His	coding	Pathogenic
21	46390709	G	T	G46390709T	PCNT	NM_006031.6(PCNT):c.3880G>T:p.Glu1294Ter	coding	Pathogenic
21	46391302	C	T	C46391302T	PCNT	NM_006031.6(PCNT):c.4142C>T:p.Ala1381Val	coding	Benign/Likely_benign
21	46391357	C	T	C46391357T	PCNT	NM_006031.6(PCNT):c.4197C>T:p.Asp1399=	coding	Benign
21	46397039	G	A	G46397039A	PCNT	NM_006031.6(PCNT):c.4217-226G>A	noncoding	Benign
21	46397333	C	T	C46397333T	PCNT	NM_006031.6(PCNT):c.4285C>T:p.Arg1429Cys	coding	Benign/Likely_benign
21	46397393	C	G	C46397393G	PCNT	NM_006031.6(PCNT):c.4345C>G:p.Gln1449Glu	coding	Benign/Likely_benign
21	46397402	G	A	G46397402A	PCNT	NM_006031.6(PCNT):c.4354G>A:p.Gly1452Arg	coding	Benign/Likely_benign
21	46398243	G	A	G46398243A	PCNT	NM_006031.6(PCNT):c.4572G>A:p.Pro1524=	coding	Benign
21	46398384	T	C	T46398384C	PCNT	NM_006031.6(PCNT):c.4584+129T>C	noncoding	Benign
21	46399707	G	T	G46399707T	PCNT	NM_006031.6(PCNT):c.4702G>T:p.Glu1568Ter	coding	Pathogenic
21	46401669	C	T	C46401669T	PCNT	NM_006031.6(PCNT):c.4910C>T:p.Pro1637Leu	coding	Benign/Likely_benign
21	46401674	A	G	A46401674G	PCNT	NM_006031.6(PCNT):c.4915A>G:p.Ile1639Val	coding	Benign
21	46401731	G	A	G46401731A	PCNT	NM_006031.6(PCNT):c.4962+10G>A	noncoding	Benign
21	46401812	G	A	G46401812A	PCNT	NM_006031.6(PCNT):c.4962+91G>A	noncoding	Benign
21	46402388	G	T	G46402388T	PCNT	NM_006031.6(PCNT):c.5020G>T:p.Glu1674Ter	coding	Pathogenic
21	46402630	C	T	C46402630T	PCNT	NM_006031.6(PCNT):c.5115+147C>T	noncoding	Benign
21	46410929	T	C	T46410929C	PCNT	NM_006031.6(PCNT):c.5116-260T>C	noncoding	Benign
21	46411326	C	G	C46411326G	PCNT	NM_006031.6(PCNT):c.5253C>G:p.His1751Gln	coding	Benign/Likely_benign
21	46411395	G	A	G46411395A	PCNT	NM_006031.6(PCNT):c.5322G>A:p.Glu1774=	coding	Benign
21	46411555	G	T	G46411555T	PCNT	NM_006031.6(PCNT):c.5482G>T:p.Glu1828Ter	coding	Pathogenic
21	46411595	A	G	A46411595G	PCNT	NM_006031.6(PCNT):c.5522A>G:p.Asn1841Ser	coding	Benign
21	46411608	G	A	G46411608A	PCNT	NM_006031.6(PCNT):c.5535G>A:p.Arg1845=	coding	Benign
21	46411651	G	T	G46411651T	PCNT	NM_006031.6(PCNT):c.5578G>T:p.Glu1860Ter	coding	Pathogenic
21	46411704	C	T	C46411704T	PCNT	NM_006031.6(PCNT):c.5631C>T:p.Ile1877=	coding	Benign
21	46411707	C	T	C46411707T	PCNT	NM_006031.6(PCNT):c.5634C>T:p.Asp1878=	coding	Benign
21	46411783	G	A	G46411783A	PCNT	NM_006031.6(PCNT):c.5710G>A:p.Ala1904Thr	coding	Benign/Likely_benign
21	46411792	C	T	C46411792T	PCNT	NM_006031.6(PCNT):c.5719C>T:p.Gln1907Ter	coding	Pathogenic
21	46411815	G	A	G46411815A	PCNT	NM_006031.6(PCNT):c.5742G>A:p.Ala1914=	coding	Benign
21	46411840	C	T	C46411840T	PCNT	NM_006031.6(PCNT):c.5767C>T:p.Arg1923Ter	coding	Pathogenic/Likely_pathogenic
21	46411844	C	T	C46411844T	PCNT	NM_006031.6(PCNT):c.5771C>T:p.Ala1924Val	coding	Benign/Likely_benign
21	46411888	C	T	C46411888T	PCNT	NM_006031.6(PCNT):c.5815C>T:p.Arg1939Trp	coding	Benign/Likely_benign
21	46411931	G	A	G46411931A	PCNT	NM_006031.6(PCNT):c.5858G>A:p.Arg1953His	coding	Benign
21	46411952	G	A	G46411952A	PCNT	NM_006031.6(PCNT):c.5879G>A:p.Arg1960Gln	coding	Benign
21	46412065	C	T	C46412065T	PCNT	NM_006031.6(PCNT):c.5992C>T:p.Gln1998Ter	coding	Pathogenic
21	46412922	A	G	A46412922G	PCNT	NM_006031.6(PCNT):c.6080A>G:p.Gln2027Arg	coding	Benign/Likely_benign
21	46412967	G	A	G46412967A	PCNT	NM_006031.6(PCNT):c.6125G>A:p.Arg2042His	coding	Benign/Likely_benign
21	46413003	G	C	G46413003C	PCNT	NM_006031.6(PCNT):c.6150+11G>C	noncoding	Benign/Likely_benign
21	46416195	G	A	G46416195A	PCNT	NM_006031.6(PCNT):c.6277G>A:p.Asp2093Asn	coding	Benign/Likely_benign
21	46416208	T	C	T46416208C	PCNT	NM_006031.6(PCNT):c.6290T>C:p.Leu2097Pro	coding	Benign
21	46416292	A	C	A46416292C	PCNT	NM_006031.6(PCNT):c.6374A>C:p.His2125Pro	coding	Benign
21	46416302	A	G	A46416302G	PCNT	NM_006031.6(PCNT):c.6384A>G:p.Thr2128=	coding	Benign
21	46416481	T	G	T46416481G	PCNT	NM_006031.6(PCNT):c.6563T>G:p.Met2188Arg	coding	Benign
21	46416489	T	C	T46416489C	PCNT	NM_006031.6(PCNT):c.6571T>C:p.Ser2191Pro	coding	Benign
21	46416497	G	A	G46416497A	PCNT	NM_006031.6(PCNT):c.6579G>A:p.Pro2193=	coding	Benign
21	46416512	T	C	T46416512C	PCNT	NM_006031.6(PCNT):c.6594T>C:p.Gly2198=	coding	Benign
21	46416534	A	G	A46416534G	PCNT	NM_006031.6(PCNT):c.6616A>G:p.Thr2206Ala	coding	Benign/Likely_benign
21	46416552	C	T	C46416552T	PCNT	NM_006031.6(PCNT):c.6634C>T:p.Arg2212Trp	coding	Benign/Likely_benign
21	46416633	T	C	T46416633C	PCNT	NM_006031.6(PCNT):c.6715T>C:p.Trp2239Arg	coding	Benign
21	46416657	C	T	C46416657T	PCNT	NM_006031.6(PCNT):c.6739C>T:p.His2247Tyr	coding	Benign
21	46416739	C	T	C46416739T	PCNT	NM_006031.6(PCNT):c.6821C>T:p.Pro2274Leu	coding	Benign
21	46416740	G	A	G46416740A	PCNT	NM_006031.6(PCNT):c.6822G>A:p.Pro2274=	coding	Benign/Likely_benign
21	46416836	T	C	T46416836C	PCNT	NM_006031.6(PCNT):c.6918T>C:p.Ala2306=	coding	Benign
21	46418209	A	G	A46418209G	PCNT	NM_006031.6(PCNT):c.6927A>G:p.Lys2309=	coding	Benign
21	46418268	C	G	C46418268G	PCNT	NM_006031.6(PCNT):c.6986C>G:p.Pro2329Arg	coding	Benign/Likely_benign
21	46421985	T	C	T46421985C	PCNT	NM_006031.6(PCNT):c.7040T>C:p.Phe2347Ser	coding	Benign/Likely_benign
21	46422019	T	C	T46422019C	PCNT	NM_006031.6(PCNT):c.7074T>C:p.Pro2358=	coding	Benign
21	46422027	A	G	A46422027G	PCNT	NM_006031.6(PCNT):c.7082A>G:p.Gln2361Arg	coding	Benign
21	46422071	C	T	C46422071T	PCNT	NM_006031.6(PCNT):c.7126C>T:p.Gln2376Ter	coding	Pathogenic
21	46422075	C	T	C46422075T	PCNT	NM_006031.6(PCNT):c.7130C>T:p.Pro2377Leu	coding	Benign
21	46422104	G	A	G46422104A	PCNT	NM_006031.6(PCNT):c.7159G>A:p.Val2387Met	coding	Benign/Likely_benign
21	46425932	C	T	C46425932T	PCNT	NM_006031.6(PCNT):c.7281C>T:p.Asp2427=	coding	Benign/Likely_benign
21	46427654	G	A	G46427654A	PCNT	NM_006031.6(PCNT):c.7353G>A:p.Gly2451=	coding	Benign
21	46427699	G	A	G46427699A	PCNT	NM_006031.6(PCNT):c.7398G>A:p.Glu2466=	coding	Benign/Likely_benign
21	46427705	G	C	G46427705C	PCNT	NM_006031.6(PCNT):c.7404G>C:p.Gln2468His	coding	Benign/Likely_benign
21	46427786	C	T	C46427786T	PCNT	NM_006031.6(PCNT):c.7485C>T:p.Ile2495=	coding	Benign
21	46427938	T	C	T46427938C	PCNT	NM_006031.6(PCNT):c.7494+143T>C	noncoding	Benign
21	46428436	G	A	G46428436A	PCNT	NM_006031.6(PCNT):c.7536G>A:p.Pro2512=	coding	Benign
21	46428545	G	A	G46428545A	PCNT	NM_006031.6(PCNT):c.7645G>A:p.Ala2549Thr	coding	Benign
21	46428552	C	T	C46428552T	PCNT	NM_006031.6(PCNT):c.7652C>T:p.Ala2551Val	coding	Benign
21	46428556	C	T	C46428556T	PCNT	NM_006031.6(PCNT):c.7656C>T:p.Arg2552=	coding	Benign
21	46430119	G	A	G46430119A	PCNT	NM_006031.6(PCNT):c.7800G>A:p.Ala2600=	coding	Benign
21	46430123	G	T	G46430123T	PCNT	NM_006031.6(PCNT):c.7804G>T:p.Glu2602Ter	coding	Pathogenic
21	46430138	C	T	C46430138T	PCNT	NM_006031.6(PCNT):c.7819C>T:p.Arg2607Ter	coding	Pathogenic
21	46430186	C	T	C46430186T	PCNT	NM_006031.6(PCNT):c.7867C>T:p.Leu2623=	coding	Benign
21	46430193	G	A	G46430193A	PCNT	NM_006031.6(PCNT):c.7874G>A:p.Arg2625Gln	coding	Benign
21	46430241	G	C	G46430241C	PCNT	NM_006031.6(PCNT):c.7913+9G>C	noncoding	Benign
21	46430491	C	T	C46430491T	PCNT	NM_006031.6(PCNT):c.7914-16C>T	noncoding	Benign
21	46430502	C	T	C46430502T	PCNT	NM_006031.6(PCNT):c.7914-5C>T	noncoding	Benign/Likely_benign
21	46430503	G	A	G46430503A	PCNT	NM_006031.6(PCNT):c.7914-4G>A	noncoding	Benign/Likely_benign
21	46430570	G	C	G46430570C	PCNT	NM_006031.6(PCNT):c.7977G>C:p.Gln2659His	coding	Benign
21	46431510	G	A	G46431510A	PCNT	NM_006031.6(PCNT):c.8065-19G>A	noncoding	Benign
21	46431722	G	A	G46431722A	PCNT	NM_006031.6(PCNT):c.8258G>A:p.Arg2753His	coding	Benign
21	46431839	A	G	A46431839G	PCNT	NM_006031.6(PCNT):c.8375A>G:p.Gln2792Arg	coding	Benign
21	46431882	G	A	G46431882A	PCNT	NM_006031.6(PCNT):c.8418G>A:p.Ala2806=	coding	Benign
21	46432135	G	A	G46432135A	PCNT	NM_006031.6(PCNT):c.8671G>A:p.Ala2891Thr	coding	Benign/Likely_benign
21	46432171	G	A	G46432171A	PCNT	NM_006031.6(PCNT):c.8707G>A:p.Ala2903Thr	coding	Benign/Likely_benign
21	46432171	G	C	G46432171C	PCNT	NM_006031.6(PCNT):c.8707G>C:p.Ala2903Pro	coding	Benign
21	46435899	A	C	A46435899C	PCNT	NM_006031.6(PCNT):c.8752-5A>C	noncoding	Benign
21	46435904	C	T	C46435904T	PCNT	NM_006031.6(PCNT):c.8752C>T:p.Arg2918Ter	coding	Pathogenic
21	46435963	A	G	A46435963G	PCNT	NM_006031.6(PCNT):c.8811A>G:p.Thr2937=	coding	Benign
21	46436047	G	A	G46436047A	PCNT	NM_006031.6(PCNT):c.8895G>A:p.Ala2965=	coding	Benign/Likely_benign
21	46436069	C	T	C46436069T	PCNT	NM_006031.6(PCNT):c.8917C>T:p.Arg2973Ter	coding	Pathogenic
21	46436076	T	C	T46436076C	PCNT	NM_006031.6(PCNT):c.8924T>C:p.Leu2975Pro	coding	Benign/Likely_benign
21	46436140	C	T	C46436140T	PCNT	NM_006031.6(PCNT):c.8988C>T:p.Ala2996=	coding	Benign
21	46436193	C	A	C46436193A	PCNT	NM_006031.6(PCNT):c.8996+45C>A	noncoding	Benign
21	46436996	C	T	C46436996T	PCNT	NM_006031.6(PCNT):c.9014C>T:p.Thr3005Met	coding	Benign
21	46436997	G	A	G46436997A	PCNT	NM_006031.6(PCNT):c.9015G>A:p.Thr3005=	coding	Benign
21	46437093	G	A	G46437093A	PCNT	NM_006031.6(PCNT):c.9099+12G>A	noncoding	Benign
21	46438238	G	A	G46438238A	PCNT	NM_006031.6(PCNT):c.9174G>A:p.Ala3058=	coding	Benign/Likely_benign
21	46438335	A	G	A46438335G	PCNT	NM_006031.6(PCNT):c.9271A>G:p.Ser3091Gly	coding	Benign
21	46438359	T	C	T46438359C	PCNT	NM_006031.6(PCNT):c.9273+22T>C	noncoding	Benign
21	46440080	C	T	C46440080T	PCNT	NM_006031.6(PCNT):c.9274-3C>T	noncoding	Benign
21	46440304	C	T	C46440304T	PCNT	NM_006031.6(PCNT):c.9393+102C>T	noncoding	Benign
21	46440851	T	C	T46440851C	PCNT	NM_006031.6(PCNT):c.9394-4T>C	noncoding	Benign
21	46442275	T	C	T46442275C	PCNT	NM_006031.6(PCNT):c.9624-222T>C	noncoding	Benign
21	46442307	C	T	C46442307T	PCNT	NM_006031.6(PCNT):c.9624-190C>T	noncoding	Benign
21	46442711	A	G	A46442711G	PCNT	NM_006031.6(PCNT):c.9700+138A>G	noncoding	Benign
21	46443829	G	A	G46443829A	PCNT	NM_006031.6(PCNT):c.9720G>A:p.Pro3240=	coding	Benign/Likely_benign
21	46443844	A	C	A46443844C	PCNT	NM_006031.6(PCNT):c.9735A>C:p.Arg3245Ser	coding	Benign
21	46444900	C	T	C46444900T	PCNT	NM_006031.6(PCNT):c.9967+79C>T	noncoding	Benign
21	46444910	G	C	G46444910C	PCNT	NM_006031.6(PCNT):c.9967+89G>C	noncoding	Benign
21	46511511	G	A	G46511511A	DIP2A	NM_015151.4(DIP2A):c.999G>A:p.Pro333=	coding	Benign
21	46511533	C	T	C46511533T	DIP2A	NM_015151.4(DIP2A):c.1021C>T:p.Arg341Cys	coding	Benign
21	46549792	C	T	C46549792T	DIP2A	NM_015151.4(DIP2A):c.2544C>T:p.Thr848=	coding	Benign
21	46557639	C	T	C46557639T	DIP2A	NM_015151.4(DIP2A):c.3684C>T:p.Asn1228=	coding	Benign
21	46567499	G	A	G46567499A	DIP2A	NM_015151.4(DIP2A):c.4593G>A:p.Val1531=	coding	Benign
21	46644495	C	T	C46644495T	PRMT2	NM_206962.4(PRMT2):c.327+7C>T	noncoding	Benign
21	46649691	C	T	C46649691T	PRMT2	NM_206962.4(PRMT2):c.606C>T:p.Pro202=	coding	Benign
21	46661896	G	A	G46661896A	PRMT2	NM_206962.4(PRMT2):c.1057G>A:p.Gly353Arg	coding	Benign
22	17084966	C	G	C17084966G	IL17RA	NM_014339.6(IL17RA):c.-126C>G	noncoding	Benign
22	17084998	C	A	C17084998A	IL17RA	NM_014339.6(IL17RA):c.-94C>A	noncoding	Benign
22	17085042	T	C	T17085042C	IL17RA	NM_014339.6(IL17RA):c.-50T>C	noncoding	Benign
22	17085059	C	G	C17085059G	IL17RA	NM_014339.7(IL17RA):c.-33C>G	noncoding	Benign
22	17085084	G	C	G17085084C	IL17RA	NM_014339.7(IL17RA):c.-8G>C	noncoding	Benign
22	17085241	C	T	C17085241T	IL17RA	NM_014339.6(IL17RA):c.138+12C>T	noncoding	Benign
22	17097829	C	T	C17097829T	IL17RA	NM_014339.6(IL17RA):c.196C>T:p.Arg66Ter	coding	Pathogenic
22	17101987	G	T	G17101987T	IL17RA	NM_014339.6(IL17RA):c.551-9G>T	noncoding	Benign/Likely_benign
22	17103518	C	T	C17103518T	IL17RA	NM_014339.6(IL17RA):c.787C>T:p.Arg263Ter	coding	Pathogenic
22	17103564	G	A	G17103564A	IL17RA	NM_014339.7(IL17RA):c.833G>A:p.Arg278His	coding	Benign
22	17104729	C	T	C17104729T	IL17RA	NM_014339.6(IL17RA):c.850C>T:p.Gln284Ter	coding	Pathogenic
22	17104734	C	G	C17104734G	IL17RA	NM_014339.6(IL17RA):c.855C>G:p.Pro285=	coding	Benign
22	17104752	C	T	C17104752T	IL17RA	NM_014339.6(IL17RA):c.873C>T:p.Leu291=	coding	Benign
22	17104768	C	T	C17104768T	IL17RA	NM_014339.7(IL17RA):c.889C>T:p.His297Tyr	coding	Benign
22	17105581	C	T	C17105581T	IL17RA	NM_014339.7(IL17RA):c.932-10C>T	noncoding	Benign
22	17108319	C	T	C17108319T	IL17RA	NM_014339.7(IL17RA):c.1100C>T:p.Ala367Val	coding	Benign
22	17108335	C	T	C17108335T	IL17RA	NM_014339.6(IL17RA):c.1116C>T:p.Pro372=	coding	Benign
22	17108356	G	A	G17108356A	IL17RA	NM_014339.6(IL17RA):c.1137G>A:p.Lys379=	coding	Benign
22	17108378	G	A	G17108378A	IL17RA	NM_014339.6(IL17RA):c.1159G>A:p.Asp387Asn	coding	Pathogenic
22	17108407	G	A	G17108407A	IL17RA	NM_014339.6(IL17RA):c.1188G>A:p.Leu396=	coding	Benign
22	17108677	C	T	C17108677T	IL17RA	NM_014339.7(IL17RA):c.1458C>T:p.Ile486=	coding	Benign
22	17108904	C	A	C17108904A	IL17RA	NM_014339.6(IL17RA):c.1685C>A:p.Pro562Gln	coding	Benign
22	17108908	C	T	C17108908T	IL17RA	NM_014339.6(IL17RA):c.1689C>T:p.Gly563=	coding	Benign/Likely_benign
22	17108966	G	C	G17108966C	IL17RA	NM_014339.7(IL17RA):c.1747G>C:p.Asp583His	coding	Benign
22	17109038	G	A	G17109038A	IL17RA	NM_014339.6(IL17RA):c.1819G>A:p.Glu607Lys	coding	Benign
22	17109290	G	A	G17109290A	IL17RA	NM_014339.6(IL17RA):c.2071G>A:p.Ala691Thr	coding	Benign
22	17109379	C	T	C17109379T	IL17RA	NM_014339.7(IL17RA):c.2160C>T:p.Pro720=	coding	Benign
22	17109514	G	A	G17109514A	IL17RA	NM_014339.6(IL17RA):c.2295G>A:p.Gln765=	coding	Benign
22	17109608	A	G	A17109608G	IL17RA	NM_014339.7(IL17RA):c.2389A>G:p.Ile797Val	coding	Benign
22	17109625	G	A	G17109625A	IL17RA	NM_014339.6(IL17RA):c.2406G>A:p.Pro802=	coding	Benign
22	17109709	C	T	C17109709T	IL17RA	NM_014339.6(IL17RA):c.2490C>T:p.Pro830=	coding	Benign/Likely_benign
22	17109854	T	C	T17109854C	IL17RA	NM_014339.6(IL17RA):c.*34T>C	noncoding	Benign
22	17110058	G	C	G17110058C	IL17RA	NM_014339.6(IL17RA):c.*238G>C	noncoding	Benign
22	17110069	A	C	A17110069C	IL17RA	NM_014339.6(IL17RA):c.*249A>C	noncoding	Benign
22	17110199	G	A	G17110199A	IL17RA	NM_014339.6(IL17RA):c.*379G>A	noncoding	Benign
22	17111199	A	T	A17111199T	IL17RA	NM_014339.6(IL17RA):c.*1379A>T	noncoding	Benign
22	17111886	G	C	G17111886C	IL17RA	NM_014339.6(IL17RA):c.*2066G>C	noncoding	Benign
22	17111931	C	T	C17111931T	IL17RA	NM_014339.7(IL17RA):c.*2111C>T	noncoding	Benign
22	17111932	C	T	C17111932T	IL17RA	NM_014339.7(IL17RA):c.*2112C>T	noncoding	Benign
22	17111983	G	C	G17111983C	IL17RA	NM_014339.6(IL17RA):c.*2163G>C	noncoding	Benign
22	17112795	G	A	G17112795A	IL17RA	NM_014339.6(IL17RA):c.*2975G>A	noncoding	Benign
22	17112880	A	G	A17112880G	IL17RA	NM_014339.6(IL17RA):c.*3060A>G	noncoding	Benign
22	17113039	A	G	A17113039G	IL17RA	NM_014339.6(IL17RA):c.*3219A>G	noncoding	Benign
22	17113582	G	A	G17113582A	IL17RA	NM_014339.6(IL17RA):c.*3762G>A	noncoding	Benign
22	17113796	G	A	G17113796A	IL17RA	NM_014339.6(IL17RA):c.*3976G>A	noncoding	Benign
22	17113882	T	A	T17113882A	IL17RA	NM_014339.6(IL17RA):c.*4062T>A	noncoding	Benign
22	17113996	T	C	T17113996C	IL17RA	NM_014339.6(IL17RA):c.*4176T>C	noncoding	Benign
22	17114025	G	A	G17114025A	IL17RA	NM_014339.6(IL17RA):c.*4205G>A	noncoding	Benign
22	17114180	T	G	T17114180G	IL17RA	NM_014339.6(IL17RA):c.*4360T>G	noncoding	Benign
22	17114856	C	T	C17114856T	IL17RA	NM_014339.6(IL17RA):c.*5036C>T	noncoding	Benign
22	17115025	C	A	C17115025A	IL17RA	NM_014339.6(IL17RA):c.*5205C>A	noncoding	Benign
22	17115039	G	C	G17115039C	IL17RA	NM_014339.6(IL17RA):c.*5219G>C	noncoding	Benign
22	17115076	C	T	C17115076T	IL17RA	NM_014339.6(IL17RA):c.*5256C>T	noncoding	Benign
22	17115090	C	T	C17115090T	IL17RA	NM_014339.6(IL17RA):c.*5270C>T	noncoding	Benign
22	17115288	T	C	T17115288C	IL17RA	NM_014339.6(IL17RA):c.*5468T>C	noncoding	Benign
22	17115339	T	C	T17115339C	IL17RA	NM_014339.6(IL17RA):c.*5519T>C	noncoding	Benign
22	17115432	A	G	A17115432G	IL17RA	NM_014339.6(IL17RA):c.*5612A>G	noncoding	Benign
22	17115479	G	A	G17115479A	IL17RA	NM_014339.6(IL17RA):c.*5659G>A	noncoding	Benign
22	17115498	G	C	G17115498C	IL17RA	NM_014339.6(IL17RA):c.*5678G>C	noncoding	Benign
22	17138186	C	G	C17138186G	HDHD5	NM_033070.3(HDHD5):c.1107G>C:p.Arg369Ser	coding	Benign
22	17141111	C	T	C17141111T	HDHD5	NM_033070.3(HDHD5):c.694G>A:p.Val232Ile	coding	Benign
22	17181809	A	G	A17181809G	ADA2	NM_001282225.2(ADA2):c.1442+11T>C	noncoding	Benign
22	17181903	A	G	A17181903G	ADA2	NM_001282225.2(ADA2):c.1359T>C:p.Tyr453=	coding	Benign
22	17181904	T	C	T17181904C	ADA2	NM_001282225.2(ADA2):c.1358A>G:p.Tyr453Cys	coding	Pathogenic
22	17182027	G	C	G17182027C	ADA2	NM_001282225.2(ADA2):c.1240-5C>G	noncoding	Benign
22	17182696	C	T	C17182696T	ADA2	NM_001282225.2(ADA2):c.1147G>A:p.Gly383Ser	coding	Pathogenic
22	17182758	C	T	C17182758T	ADA2	NM_001282225.2(ADA2):c.1085G>A:p.Trp362Ter	coding	Pathogenic
22	17188342	T	C	T17188342C	ADA2	NM_001282225.2(ADA2):c.1078A>G:p.Thr360Ala	coding	Pathogenic
22	17188375	C	T	C17188375T	ADA2	NM_001282225.2(ADA2):c.1045G>A:p.Val349Ile	coding	Benign/Likely_benign
22	17188449	T	C	T17188449C	ADA2	NM_001282225.2(ADA2):c.973-2A>G	noncoding	Pathogenic
22	17189980	G	A	G17189980A	ADA2	NM_001282225.2(ADA2):c.934C>T:p.Arg312Ter	coding	Pathogenic
22	17191773	C	G	C17191773G	ADA2	NM_001282225.2(ADA2):c.791G>C:p.Trp264Ser	coding	Pathogenic
22	17203564	G	A	G17203564A	ADA2	NM_001282225.2(ADA2):c.752C>T:p.Pro251Leu	coding	Pathogenic
22	17203656	G	A	G17203656A	ADA2	NM_001282225.2(ADA2):c.660C>T:p.Tyr220=	coding	Benign
22	17207064	T	C	T17207064C	ADA2	NM_001282225.2(ADA2):c.542+7A>G	noncoding	Benign
22	17207102	G	A	G17207102A	ADA2	NM_001282225.2(ADA2):c.511C>T:p.Arg171Trp	coding	Benign
22	17207107	C	T	C17207107T	ADA2	NM_001282225.2(ADA2):c.506G>A:p.Arg169Gln	coding	Pathogenic/Likely_pathogenic
22	17207277	G	C	G17207277C	ADA2	NM_001282225.2(ADA2):c.336C>G:p.His112Gln	coding	Pathogenic
22	17207287	G	T	G17207287T	ADA2	NM_001282225.2(ADA2):c.326C>A:p.Ala109Asp	coding	Pathogenic
22	17209519	G	A	G17209519A	ADA2	NM_001282225.2(ADA2):c.159C>T:p.Asn53=	coding	Benign
22	17209538	C	A	C17209538A	ADA2	NM_001282225.2(ADA2):c.140G>T:p.Gly47Val	coding	Pathogenic/Likely_pathogenic
22	17209538	C	G	C17209538G	ADA2	NM_001282225.2(ADA2):c.140G>C:p.Gly47Ala	coding	Pathogenic
22	17209539	C	T	C17209539T	ADA2	NM_001282225.2(ADA2):c.139G>A:p.Gly47Arg	coding	Pathogenic/Likely_pathogenic
22	17511843	T	G	T17511843G	CECR2	NM_001290046.1(CECR2):c.412T>G:p.Leu138Val	coding	Benign
22	17524110	C	T	C17524110T	CECR2	NM_001290046.1(CECR2):c.466-8C>T	noncoding	Benign
22	17538986	C	T	C17538986T	CECR2	NM_001290046.1(CECR2):c.880-7C>T	noncoding	Benign
22	17540693	A	G	A17540693G	CECR2	NM_001290046.1(CECR2):c.1288A>G:p.Ser430Gly	coding	Benign
22	17542357	T	C	T17542357C	CECR2	NM_001290046.1(CECR2):c.1725T>C:p.His575=	coding	Benign
22	17542371	C	T	C17542371T	CECR2	NM_001290046.1(CECR2):c.1739C>T:p.Ala580Val	coding	Benign
22	17542684	C	T	C17542684T	CECR2	NM_001290046.1(CECR2):c.2052C>T:p.Ala684=	coding	Benign
22	17548287	A	G	A17548287G	CECR2	NM_001290046.1(CECR2):c.2508A>G:p.Thr836=	coding	Benign
22	17548476	T	C	T17548476C	CECR2	NM_001290046.1(CECR2):c.2697T>C:p.Pro899=	coding	Benign
22	17549256	G	A	G17549256A	CECR2	NM_001290046.1(CECR2):c.3477G>A:p.Pro1159=	coding	Benign
22	17552064	G	C	G17552064C	CECR2	NM_001290046.1(CECR2):c.3819G>C:p.Ser1273=	coding	Benign
22	17592721	G	A	G17592721A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.634C>T:p.Arg212Trp	coding	Pathogenic
22	17598196	G	A	G17598196A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.528C>T:p.Asp176=	coding	Benign/Likely_benign
22	17600079	A	G	A17600079G	ATP6V1E1	NM_001696.4(ATP6V1E1):c.383T>C:p.Leu128Pro	coding	Pathogenic
22	17612843	T	C	T17612843C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.245A>G:p.Lys82Arg	coding	Benign
22	17612851	C	T	C17612851T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.237G>A:p.Ala79=	coding	Benign
22	17683229	T	C	T17683229C	BCL2L13	NM_015367.4(BCL2L13):c.137T>C:p.Ile46Thr	coding	Benign
22	17702357	G	T	G17702357T	BCL2L13	NM_015367.4(BCL2L13):c.571G>T:p.Ala191Ser	coding	Benign
22	17791210	C	A	C17791210A	MICAL3	NM_015241.3(MICAL3):c.5742G>T:p.Leu1914=	coding	Benign
22	17818424	G	A	G17818424A	MICAL3	NM_015241.3(MICAL3):c.4237C>T:p.Arg1413Cys	coding	Benign
22	17818804	G	A	G17818804A	MICAL3	NM_015241.3(MICAL3):c.3857C>T:p.Pro1286Leu	coding	Benign
22	17822038	T	C	T17822038C	MICAL3	NM_015241.3(MICAL3):c.3440A>G:p.Gln1147Arg	coding	Benign
22	17893880	C	T	C17893880T	MICAL3	NM_015241.3(MICAL3):c.1474G>A:p.Glu492Lys	coding	Benign
22	17896769	G	A	G17896769A	MICAL3	NM_015241.3(MICAL3):c.1161C>T:p.Asn387=	coding	Benign
22	18077981	C	T	C18077981T	PEX26	NM_001199319.1(PEX26):c.-148C>T	noncoding	Benign
22	18078059	A	G	A18078059G	PEX26	NM_001127649.3(PEX26):c.-318A>G	noncoding	Benign
22	18078607	G	T	G18078607T	PEX26	NM_001127649.3(PEX26):c.230+1G>T	coding	Pathogenic
22	18079908	G	A	G18079908A	PEX26	NM_001127649.3(PEX26):c.265G>A:p.Gly89Arg	coding	Pathogenic
22	18079935	C	T	C18079935T	PEX26	NM_001127649.3(PEX26):c.292C>T:p.Arg98Trp	coding	Pathogenic
22	18079939	G	A	G18079939A	PEX26	NM_001127649.3(PEX26):c.296G>A:p.Trp99Ter	coding	Pathogenic
22	18083522	C	G	C18083522G	PEX26	NM_001127649.3(PEX26):c.457C>G:p.Leu153Val	coding	Benign/Likely_benign
22	18083558	C	T	C18083558T	PEX26	NM_001127649.3(PEX26):c.493C>T:p.Gln165Ter	coding	Pathogenic
22	18083639	C	T	C18083639T	PEX26	NM_001127649.3(PEX26):c.574C>T:p.Arg192Ter	coding	Pathogenic
22	18088085	C	T	C18088085T	PEX26	NM_001127649.3(PEX26):c.*10C>T	noncoding	Benign
22	18088242	G	A	G18088242A	PEX26	NM_001127649.3(PEX26):c.*167G>A	noncoding	Benign
22	18088475	C	T	C18088475T	PEX26	NM_001127649.3(PEX26):c.*400C>T	noncoding	Benign
22	18088767	T	C	T18088767C	PEX26	NM_001127649.3(PEX26):c.*692T>C	noncoding	Benign
22	18088829	A	G	A18088829G	PEX26	NM_001127649.3(PEX26):c.*754A>G	noncoding	Benign
22	18088904	A	G	A18088904G	PEX26	NM_001127649.3(PEX26):c.*829A>G	noncoding	Benign
22	18088992	C	T	C18088992T	PEX26	NM_001127649.3(PEX26):c.*917C>T	noncoding	Benign
22	18089018	G	A	G18089018A	PEX26	NM_001127649.3(PEX26):c.*943G>A	noncoding	Benign
22	18089019	C	A	C18089019A	PEX26	NM_001127649.3(PEX26):c.*944C>A	noncoding	Benign
22	18089062	T	C	T18089062C	PEX26	NM_001127649.3(PEX26):c.*987T>C	noncoding	Benign
22	18089078	T	G	T18089078G	PEX26	NM_001127649.3(PEX26):c.*1003T>G	noncoding	Benign
22	18089340	T	A	T18089340A	PEX26	NM_001127649.3(PEX26):c.*1265T>A	noncoding	Benign
22	18089358	C	T	C18089358T	PEX26	NM_001127649.3(PEX26):c.*1283C>T	noncoding	Benign
22	18089665	G	A	G18089665A	PEX26	NM_001127649.3(PEX26):c.*1590G>A	noncoding	Benign
22	18089683	G	A	G18089683A	PEX26	NM_001127649.3(PEX26):c.*1608G>A	noncoding	Benign
22	18090032	G	A	G18090032A	PEX26	NM_001127649.3(PEX26):c.*1957G>A	noncoding	Benign
22	18090126	A	G	A18090126G	PEX26	NM_001127649.3(PEX26):c.*2051A>G	noncoding	Benign
22	18090356	T	C	T18090356C	PEX26	NM_001127649.3(PEX26):c.*2281T>C	noncoding	Benign
22	18090776	G	C	G18090776C	PEX26	NM_001127649.3(PEX26):c.*2701G>C	noncoding	Benign
22	18090953	C	T	C18090953T	PEX26	NM_001127649.3(PEX26):c.*2878C>T	noncoding	Benign
22	18124179	C	T	C18124179T	TUBA8	NM_018943.3(TUBA8):c.250C>T:p.Arg84Cys	coding	Benign/Likely_benign
22	18124253	C	T	C18124253T	TUBA8	NM_018943.3(TUBA8):c.324C>T:p.Tyr108=	coding	Benign/Likely_benign
22	18126279	G	A	G18126279A	TUBA8	NM_018943.3(TUBA8):c.376-75G>A	noncoding	Benign
22	18126361	C	T	C18126361T	TUBA8	NM_018943.3(TUBA8):c.383C>T:p.Ala128Val	coding	Benign
22	18126726	G	A	G18126726A	TUBA8	NM_018943.3(TUBA8):c.748G>A:p.Val250Met	coding	Benign
22	18126794	C	T	C18126794T	TUBA8	NM_018943.3(TUBA8):c.816C>T:p.Tyr272=	coding	Benign/Likely_benign
22	18126875	C	T	C18126875T	TUBA8	NM_018943.3(TUBA8):c.897C>T:p.Asn299=	coding	Benign
22	18127087	G	A	G18127087A	TUBA8	NM_018943.3(TUBA8):c.1056+53G>A	noncoding	Benign
22	18130836	C	T	C18130836T	TUBA8	NM_018943.3(TUBA8):c.1057-7C>T	noncoding	Benign
22	18130959	C	T	C18130959T	TUBA8	NM_018943.3(TUBA8):c.1173C>T:p.Leu391=	coding	Benign
22	18157736	G	A	G18157736A	USP18	NM_017414.4(USP18):c.73G>A:p.Asp25Asn	coding	Benign
22	18160167	T	G	T18160167G	USP18	NM_017414.4(USP18):c.158-5T>G	noncoding	Benign
22	18169849	C	T	C18169849T	USP18	NM_017414.4(USP18):c.633C>T:p.Asp211=	coding	Benign
22	18169868	C	T	C18169868T	USP18	NM_017414.4(USP18):c.652C>T:p.Gln218Ter	coding	Pathogenic
22	18173225	A	G	A18173225G	USP18	NM_017414.4(USP18):c.967A>G:p.Ile323Val	coding	Benign
22	18173232	A	G	A18173232G	USP18	NM_017414.4(USP18):c.974A>G:p.Asn325Ser	coding	Benign
22	18173843	G	A	G18173843A	USP18	NM_017414.4(USP18):c.1073+1G>A	coding	Pathogenic
22	18906398	G	A	G18906398A	DGCR6	NM_005675.6(DGCR6):c.24G>A:p.Leu8=	coding	Benign
22	18913237	G	A	G18913237A	PRODH	NM_016335.6(PRODH):c.1741C>T:p.Leu581=	coding	Benign
22	18913355	G	C	G18913355C	PRODH	NM_016335.6(PRODH):c.1623C>G:p.Ala541=	coding	Benign
22	18913492	G	C	G18913492C	PRODH	NM_016335.6(PRODH):c.1561C>G:p.Arg521Gly	coding	Pathogenic
22	18916976	G	A	G18916976A	PRODH	NM_016335.5(PRODH):c.1440C>T:p.Tyr480=	coding	Benign
22	18918369	G	T	G18918369T	PRODH	NM_016335.5(PRODH):c.1374C>A:p.Gly458=	coding	Benign
22	18918381	C	T	C18918381T	PRODH	NM_016335.5(PRODH):c.1362G>A:p.Ala454=	coding	Benign
22	18918464	C	T	C18918464T	PRODH	NM_016335.5(PRODH):c.1279G>A:p.Val427Met	coding	Benign
22	18919466	G	T	G18919466T	PRODH	NM_016335.5(PRODH):c.1236C>A:p.Tyr412Ter	coding	Pathogenic
22	18919485	G	A	G18919485A	PRODH	NM_016335.5(PRODH):c.1217C>T:p.Pro406Leu	coding	Benign
22	18925164	C	T	C18925164T	PRODH	NM_016335.5(PRODH):c.554G>A:p.Trp185Ter	coding	Benign
22	18936116	C	T	C18936116T	PRODH	NM_016335.5(PRODH):c.172G>A:p.Ala58Thr	coding	Benign
22	18936200	G	A	G18936200A	PRODH	NM_001195226.2(PRODH):c.-52+190C>T	coding	Benign
22	18936265	G	A	G18936265A	PRODH	NM_016335.5(PRODH):c.23C>T:p.Pro8Leu	coding	Benign
22	18936274	C	T	C18936274T	PRODH	NM_016335.5(PRODH):c.14G>A:p.Arg5His	coding	Benign
22	19041137	C	T	C19041137T	DGCR2	NM_005137.3(DGCR2):c.1317G>A:p.Pro439=	coding	Benign
22	19057110	A	C	A19057110C	DGCR2	NM_005137.3(DGCR2):c.678T>G:p.Ser226=	coding	Benign
22	19064973	G	A	G19064973A	DGCR2	NM_005137.3(DGCR2):c.423C>T:p.Ala141=	coding	Benign
22	19122176	G	A	G19122176A	DGCR2	NM_005137.3(DGCR2):c.31C>T:p.Leu11=	coding	Benign
22	19137425	G	A	G19137425A	ESS2	NM_022719.3(ESS2):c.933C>T:p.Asn311=	coding	Benign
22	19139281	C	T	C19139281T	ESS2	NM_022719.3(ESS2):c.700G>A:p.Glu234Lys	coding	Benign
22	19142734	G	A	G19142734A	ESS2	NM_022719.3(ESS2):c.296C>T:p.Pro99Leu	coding	Benign
22	19142832	C	T	C19142832T	ESS2	NM_022719.3(ESS2):c.198G>A:p.Lys66=	coding	Benign
22	19144622	A	C	A19144622C	ESS2	NM_022719.3(ESS2):c.19T>G:p.Ser7Ala	coding	Benign
22	19176139	C	T	C19176139T	SLC25A1	NM_005984.5(SLC25A1):c.927G>A:p.Lys309=	coding	Benign
22	19176172	A	G	A19176172G	SLC25A1	NM_005984.5(SLC25A1):c.894T>C:p.Asp298=	coding	Benign
22	19176221	C	T	C19176221T	SLC25A1	NM_005984.5(SLC25A1):c.845G>A:p.Arg282His	coding	Pathogenic
22	19176222	G	C	G19176222C	SLC25A1	NM_005984.5(SLC25A1):c.844C>G:p.Arg282Gly	coding	Pathogenic
22	19176420	C	T	C19176420T	SLC25A1	NM_005984.5(SLC25A1):c.821+1G>A	noncoding	Pathogenic
22	19176421	G	A	G19176421A	SLC25A1	NM_005984.5(SLC25A1):c.821C>T:p.Ala274Val	coding	Pathogenic
22	19176456	G	A	G19176456A	SLC25A1	NM_005984.5(SLC25A1):c.786C>T:p.Cys262=	coding	Benign/Likely_benign
22	19176585	C	T	C19176585T	SLC25A1	NM_005984.5(SLC25A1):c.740G>A:p.Arg247Gln	coding	Pathogenic
22	19177126	C	A	C19177126A	SLC25A1	NM_005984.5(SLC25A1):c.520G>T:p.Glu174Ter	coding	Pathogenic
22	19177779	C	T	C19177779T	SLC25A1	NM_005984.5(SLC25A1):c.389G>A:p.Gly130Asp	coding	Pathogenic
22	19177941	C	A	C19177941A	SLC25A1	NM_005984.5(SLC25A1):c.302+1G>T	noncoding	Pathogenic
22	19177965	A	G	A19177965G	SLC25A1	NM_005984.5(SLC25A1):c.279T>C:p.Gly93=	coding	Benign/Likely_benign
22	19178116	G	T	G19178116T	SLC25A1	NM_005984.5(SLC25A1):c.202+17C>A	noncoding	Benign
22	19178310	C	G	C19178310G	SLC25A1	NM_005984.5(SLC25A1):c.95-70G>C	coding	Benign
22	19178342	G	A	G19178342A	SLC25A1	NM_005984.5(SLC25A1):c.95-102C>T	coding	Benign
22	19178371	G	C	G19178371C	SLC25A1	NM_005984.5(SLC25A1):c.95-131C>G	coding	Benign
22	19183443	C	G	C19183443G	CLTCL1	NM_007098.4(CLTCL1):c.4774G>C:p.Val1592Leu	coding	Benign
22	19196256	C	T	C19196256T	CLTCL1	NM_007098.4(CLTCL1):c.4191+10G>A	noncoding	Benign
22	19196484	G	A	G19196484A	CLTCL1	NM_007098.4(CLTCL1):c.4041+5C>T	noncoding	Benign
22	19201365	G	A	G19201365A	CLTCL1	NM_007098.4(CLTCL1):c.3729C>T:p.Asn1243=	coding	Benign
22	19208261	G	A	G19208261A	CLTCL1	NM_007098.4(CLTCL1):c.3493C>T:p.Arg1165Cys	coding	Benign
22	19216170	A	G	A19216170G	CLTCL1	NM_007098.4(CLTCL1):c.3006T>C:p.Asn1002=	coding	Benign
22	19219970	C	T	C19219970T	CLTCL1	NM_007098.4(CLTCL1):c.2834G>A:p.Arg945His	coding	Benign
22	19219982	T	C	T19219982C	CLTCL1	NM_007098.4(CLTCL1):c.2822A>G:p.Lys941Arg	coding	Benign
22	19222080	C	T	C19222080T	CLTCL1	NM_007098.4(CLTCL1):c.2432G>A:p.Arg811Gln	coding	Benign
22	19226312	C	T	C19226312T	CLTCL1	NM_007098.4(CLTCL1):c.1854G>A:p.Glu618=	coding	Benign
22	19229841	G	A	G19229841A	CLTCL1	NM_007098.4(CLTCL1):c.1779C>T:p.Pro593=	coding	Benign
22	19229899	C	T	C19229899T	CLTCL1	NM_007098.4(CLTCL1):c.1721G>A:p.Arg574His	coding	Benign
22	19232468	A	G	A19232468G	CLTCL1	NM_007098.4(CLTCL1):c.1644+8T>C	noncoding	Benign
22	19232542	C	T	C19232542T	CLTCL1	NM_007098.4(CLTCL1):c.1578G>A:p.Pro526=	coding	Benign
22	19234620	G	A	G19234620A	CLTCL1	NM_007098.4(CLTCL1):c.1056C>T:p.Ala352=	coding	Benign
22	19253965	C	T	C19253965T	CLTCL1	NM_007098.4(CLTCL1):c.513G>A:p.Ser171=	coding	Benign
22	19353405	G	A	G19353405A	HIRA	NM_003325.4(HIRA):c.2799C>T:p.His933=	coding	Benign
22	19353483	A	G	A19353483G	HIRA	NM_003325.4(HIRA):c.2721T>C:p.Pro907=	coding	Benign
22	19354025	C	T	C19354025T	HIRA	NM_003325.4(HIRA):c.2655G>A:p.Pro885=	coding	Benign
22	19354106	A	C	A19354106C	HIRA	NM_003325.4(HIRA):c.2574T>G:p.Ser858=	coding	Benign
22	19355751	C	T	C19355751T	HIRA	NM_003325.4(HIRA):c.2561+9G>A	noncoding	Benign
22	19356246	T	C	T19356246C	HIRA	NM_003325.4(HIRA):c.2439A>G:p.Leu813=	coding	Benign
22	19378015	C	T	C19378015T	HIRA	NM_003325.4(HIRA):c.1467G>A:p.Ala489=	coding	Benign
22	19383643	G	A	G19383643A	HIRA	NM_003325.4(HIRA):c.1392C>T:p.Leu464=	coding	Benign
22	19385685	C	T	C19385685T	HIRA	NM_003325.4(HIRA):c.1165G>A:p.Ala389Thr	coding	Benign
22	19387759	G	C	G19387759C	HIRA	NM_003325.4(HIRA):c.1065C>G:p.Leu355=	coding	Benign
22	19392094	G	C	G19392094C	HIRA	NM_003325.4(HIRA):c.936+7C>G	noncoding	Benign
22	19396832	C	T	C19396832T	HIRA	NM_003325.4(HIRA):c.609G>A:p.Thr203=	coding	Benign
22	19467974	G	A	G19467974A	UFD1	NM_005659.7(UFD1):c.321C>T:p.Gly107=	coding	Benign
22	19482726	G	A	G19482726A	CDC45	NM_003504.5(CDC45):c.241G>A:p.Val81Ile	coding	Benign
22	19482803	C	T	C19482803T	CDC45	NM_001178010.2(CDC45):c.318C>T:p.Val106=	coding	Pathogenic
22	19482818	C	T	C19482818T	CDC45	NM_001178010.2(CDC45):c.333C>T:p.Asn111=	coding	Pathogenic
22	19494512	C	G	C19494512G	CDC45	NM_003504.5(CDC45):c.542+130C>G	coding	Benign
22	19505357	T	C	T19505357C	CDC45	NM_003504.5(CDC45):c.705-5T>C	noncoding	Benign
22	19505425	C	T	C19505425T	CDC45	NM_003504.5(CDC45):c.768C>T:p.Asn256=	coding	Benign
22	19518848	T	C	T19518848C	CDC45	NM_003504.5(CDC45):c.1641T>C:p.Ile547=	coding	Benign
22	19714624	G	A	G19714624A	SEPTIN5	NM_002688.6(SEPTIN5):c.36G>A:p.Ala12=	coding	Benign
22	19723410	C	G	C19723410G	GP1BB	NR_037611.1(SEPT5-GP1BB):n.3581C>G	noncoding	Pathogenic
22	19723962	G	A	G19723962A	GP1BB	NM_000407.5(GP1BB):c.119G>A:p.Gly40Glu	coding	Benign
22	19723986	C	A	C19723986A	GP1BB	NM_000407.4(GP1BB):c.143C>A:p.Ser48Ter	coding	Pathogenic
22	19724149	C	T	C19724149T	GP1BB	NM_000407.5(GP1BB):c.306C>T:p.Ala102=	coding	Benign
22	19724181	A	G	A19724181G	GP1BB	NM_000407.4(GP1BB):c.338A>G:p.Tyr113Cys	coding	Pathogenic
22	19724232	C	T	C19724232T	GP1BB	NM_000407.5(GP1BB):c.389C>T:p.Pro130Leu	coding	Benign
22	19724240	G	C	G19724240C	GP1BB	NM_000407.4(GP1BB):c.397G>C:p.Ala133Pro	coding	Pathogenic
22	19755950	C	T	C19755950T	TBX1	NM_080647.1(TBX1):c.-882C>T	noncoding	Benign
22	19759605	C	T	C19759605T	TBX1	NM_080647.1(TBX1):c.-39C>T	noncoding	Benign/Likely_benign
22	19760933	G	T	G19760933T	TBX1	NM_080647.1(TBX1):c.63G>T:p.Leu21=	coding	Benign
22	19760945	G	T	G19760945T	TBX1	NM_080647.1(TBX1):c.75G>T:p.Gly25=	coding	Benign
22	19761162	A	T	A19761162T	TBX1	NM_080647.1(TBX1):c.292A>T:p.Lys98Ter	coding	Pathogenic
22	19761167	G	A	G19761167A	TBX1	NM_080647.1(TBX1):c.297G>A:p.Ala99=	coding	Benign
22	19761191	G	A	G19761191A	TBX1	NM_080647.1(TBX1):c.321G>A:p.Val107=	coding	Benign
22	19763250	T	C	T19763250C	TBX1	NM_080647.1(TBX1):c.420T>C:p.Phe140=	coding	Benign
22	19763273	T	A	T19763273A	TBX1	NM_080647.1(TBX1):c.443T>A:p.Phe148Tyr	coding	Pathogenic
22	19763274	C	T	C19763274T	TBX1	NM_080647.1(TBX1):c.444C>T:p.Phe148=	coding	Benign/Likely_benign
22	19763322	G	A	G19763322A	TBX1	NM_080647.1(TBX1):c.492G>A:p.Pro164=	coding	Benign/Likely_benign
22	19764209	G	A	G19764209A	TBX1	NM_080647.1(TBX1):c.567G>A:p.Thr189=	coding	Benign/Likely_benign
22	19764224	C	G	C19764224G	TBX1	NM_080647.1(TBX1):c.582C>G:p.His194Gln	coding	Pathogenic
22	19764306	C	T	C19764306T	TBX1	NM_080647.1(TBX1):c.664C>T:p.Leu222=	coding	Benign
22	19764320	C	T	C19764320T	TBX1	NM_080647.1(TBX1):c.678C>T:p.Asn226=	coding	Benign
22	19765069	G	T	G19765069T	TBX1	NM_080647.1(TBX1):c.796G>T:p.Glu266Ter	coding	Pathogenic
22	19765086	C	T	C19765086T	TBX1	NM_080647.1(TBX1):c.813C>T:p.Thr271=	coding	Benign/Likely_benign
22	19765825	G	A	G19765825A	TBX1	NM_080647.1(TBX1):c.908G>A:p.Trp303Ter	coding	Pathogenic
22	19765900	A	G	A19765900G	TBX1	NM_080647.1(TBX1):c.909-2A>G	noncoding	Pathogenic
22	19765920	C	T	C19765920T	TBX1	NM_080647.1(TBX1):c.927C>T:p.Pro309=	coding	Benign
22	19765921	G	A	G19765921A	TBX1	NM_080647.1(TBX1):c.928G>A:p.Gly310Ser	coding	Benign
22	19765926	A	G	A19765926G	TBX1	NM_080647.1(TBX1):c.933A>G:p.Ala311=	coding	Benign
22	19766404	G	A	G19766404A	TBX1	NM_080647.1(TBX1):c.1025G>A:p.Arg342Gln	coding	Benign
22	19766438	A	G	A19766438G	TBX1	NM_080647.1(TBX1):c.1059A>G:p.Ala353=	coding	Benign
22	19766568	A	C	A19766568C	TBX1	NM_080647.1(TBX1):c.1189A>C:p.Asn397His	coding	Benign
22	19766590	C	G	C19766590G	TBX1	NM_080647.1(TBX1):c.1211C>G:p.Ala404Gly	coding	Benign
22	19766594	C	T	C19766594T	TBX1	NM_080647.1(TBX1):c.1215C>T:p.Pro405=	coding	Benign
22	19766666	C	T	C19766666T	TBX1	NM_080647.1(TBX1):c.1287C>T:p.Ala429=	coding	Benign
22	19766732	T	C	T19766732C	TBX1	NM_080647.1(TBX1):c.1353T>C:p.His451=	coding	Benign/Likely_benign
22	19779259	C	T	C19779259T	TBX1	NM_005992.1(TBX1):c.1010-3654C>T	coding	Benign
22	19788859	G	A	G19788859A	GNB1L	NM_053004.3(GNB1L):c.834C>T:p.Arg278=	coding	Benign
22	19788883	G	A	G19788883A	GNB1L	NM_053004.3(GNB1L):c.810C>T:p.Thr270=	coding	Benign
22	19812333	C	G	C19812333G	GNB1L	NM_053004.3(GNB1L):c.369G>C:p.Gly123=	coding	Benign
22	19812336	G	C	G19812336C	GNB1L	NM_053004.3(GNB1L):c.366C>G:p.Ala122=	coding	Benign
22	19821268	C	T	C19821268T	GNB1L	NM_053004.3(GNB1L):c.88G>A:p.Glu30Lys	coding	Benign
22	19821290	C	T	C19821290T	GNB1L	NM_053004.3(GNB1L):c.66G>A:p.Pro22=	coding	Benign
22	19877171	C	T	C19877171T	TXNRD2	NM_006440.5(TXNRD2):c.1509G>A:p.Glu503=	coding	Benign/Likely_benign
22	19877219	A	G	A19877219G	TXNRD2	NM_006440.5(TXNRD2):c.1461T>C:p.Tyr487=	coding	Benign
22	19877437	C	T	C19877437T	TXNRD2	NM_006440.5(TXNRD2):c.1446-203G>A	noncoding	Benign
22	19877836	C	T	C19877836T	TXNRD2	NM_006440.5(TXNRD2):c.1445+254G>A	noncoding	Benign
22	19878072	G	A	G19878072A	TXNRD2	NM_006440.5(TXNRD2):c.1445+18C>T	noncoding	Benign
22	19878346	T	C	T19878346C	TXNRD2	NM_006440.5(TXNRD2):c.1347+20A>G	noncoding	Benign
22	19878671	G	C	G19878671C	TXNRD2	NM_006440.5(TXNRD2):c.1276-234C>G	noncoding	Benign
22	19879981	A	G	A19879981G	TXNRD2	NM_006440.5(TXNRD2):c.1275+198T>C	noncoding	Benign
22	19880016	C	G	C19880016G	TXNRD2	NM_006440.5(TXNRD2):c.1275+163G>C	noncoding	Benign
22	19880221	G	A	G19880221A	TXNRD2	NM_006440.5(TXNRD2):c.1233C>T:p.Ser411=	coding	Benign
22	19880248	C	T	C19880248T	TXNRD2	NM_006440.5(TXNRD2):c.1206G>A:p.Pro402=	coding	Benign
22	19880646	G	A	G19880646A	TXNRD2	NM_006440.5(TXNRD2):c.1158C>T:p.Ser386=	coding	Benign
22	19880654	C	T	C19880654T	TXNRD2	NM_006440.5(TXNRD2):c.1150G>A:p.Gly384Ser	coding	Benign
22	19880667	C	G	C19880667G	TXNRD2	NM_006440.5(TXNRD2):c.1137G>C:p.Val379=	coding	Benign/Likely_benign
22	19880695	A	G	A19880695G	TXNRD2	NM_006440.5(TXNRD2):c.1109T>C:p.Ile370Thr	coding	Benign
22	19880705	G	A	G19880705A	TXNRD2	NM_006440.5(TXNRD2):c.1099C>T:p.Leu367=	coding	Benign
22	19880728	G	A	G19880728A	TXNRD2	NM_006440.5(TXNRD2):c.1087-11C>T	noncoding	Benign
22	19883308	C	T	C19883308T	TXNRD2	NM_006440.5(TXNRD2):c.1086+17G>A	noncoding	Benign
22	19883334	G	A	G19883334A	TXNRD2	NM_006440.5(TXNRD2):c.1077C>T:p.Asp359=	coding	Benign/Likely_benign
22	19883574	C	G	C19883574G	TXNRD2	NM_006440.5(TXNRD2):c.950-113G>C	noncoding	Benign
22	19883675	C	T	C19883675T	TXNRD2	NM_006440.5(TXNRD2):c.950-214G>A	noncoding	Benign
22	19883681	T	C	T19883681C	TXNRD2	NM_006440.5(TXNRD2):c.950-220A>G	noncoding	Benign
22	19895107	G	A	G19895107A	TXNRD2	NM_006440.5(TXNRD2):c.949+300C>T	coding	Benign
22	19895365	G	A	G19895365A	TXNRD2	NM_006440.5(TXNRD2):c.949+42C>T	noncoding	Benign
22	19895423	G	A	G19895423A	TXNRD2	NM_006440.5(TXNRD2):c.933C>T:p.Thr311=	coding	Benign/Likely_benign
22	19895453	G	T	G19895453T	TXNRD2	NM_006440.5(TXNRD2):c.903C>A:p.Thr301=	coding	Benign
22	19895461	T	G	T19895461G	TXNRD2	NM_006440.5(TXNRD2):c.895A>C:p.Ser299Arg	coding	Benign
22	19895540	G	A	G19895540A	TXNRD2	NM_006440.5(TXNRD2):c.816C>T:p.Gly272=	coding	Benign/Likely_benign
22	19895666	A	G	A19895666G	TXNRD2	NM_006440.5(TXNRD2):c.775-85T>C	noncoding	Benign
22	19898025	G	T	G19898025T	TXNRD2	NM_006440.5(TXNRD2):c.774+14C>A	noncoding	Benign
22	19898050	C	G	C19898050G	TXNRD2	NM_006440.5(TXNRD2):c.763G>C:p.Gly255Arg	coding	Benign/Likely_benign
22	19898136	G	A	G19898136A	TXNRD2	NM_006440.5(TXNRD2):c.683-6C>T	noncoding	Benign/Likely_benign
22	19899274	G	A	G19899274A	TXNRD2	NM_006440.5(TXNRD2):c.663-206C>T	noncoding	Benign
22	19911314	A	G	A19911314G	TXNRD2	NM_006440.5(TXNRD2):c.662+63T>C	noncoding	Benign
22	19911363	C	T	C19911363T	TXNRD2	NM_006440.5(TXNRD2):c.662+14G>A	noncoding	Benign
22	19911364	G	A	G19911364A	TXNRD2	NM_006440.5(TXNRD2):c.662+13C>T	noncoding	Benign
22	19915003	T	C	T19915003C	TXNRD2	NM_006440.5(TXNRD2):c.591+211A>G	noncoding	Benign
22	19915148	C	T	C19915148T	TXNRD2	NM_006440.5(TXNRD2):c.591+66G>A	noncoding	Benign
22	19915282	G	A	G19915282A	TXNRD2	NM_006440.5(TXNRD2):c.529-6C>T	noncoding	Benign/Likely_benign
22	19915373	C	T	C19915373T	TXNRD2	NM_006440.5(TXNRD2):c.529-97G>A	noncoding	Benign
22	19915394	G	C	G19915394C	TXNRD2	NM_006440.5(TXNRD2):c.529-118C>G	noncoding	Benign
22	19915767	C	G	C19915767G	TXNRD2	NM_006440.5(TXNRD2):c.526G>C:p.Glu176Gln	coding	Benign
22	19915831	G	A	G19915831A	TXNRD2	NM_006440.5(TXNRD2):c.462C>T:p.Tyr154=	coding	Benign/Likely_benign
22	19916135	G	A	G19916135A	TXNRD2	NM_006440.5(TXNRD2):c.450-292C>T	noncoding	Benign
22	19918032	C	T	C19918032T	TXNRD2	NM_006440.5(TXNRD2):c.449+111G>A	noncoding	Benign
22	19918279	G	A	G19918279A	TXNRD2	NM_006440.5(TXNRD2):c.375-62C>T	noncoding	Benign
22	19918345	G	T	G19918345T	TXNRD2	NM_006440.5(TXNRD2):c.375-128C>A	noncoding	Benign
22	19918573	C	T	C19918573T	TXNRD2	NM_006440.5(TXNRD2):c.374+287G>A	noncoding	Benign
22	19918733	G	A	G19918733A	TXNRD2	NM_006440.5(TXNRD2):c.374+127C>T	noncoding	Benign
22	19918783	C	G	C19918783G	TXNRD2	NM_006440.5(TXNRD2):c.374+77G>C	noncoding	Benign
22	19918844	G	T	G19918844T	TXNRD2	NM_006440.5(TXNRD2):c.374+16C>A	noncoding	Benign
22	19918847	G	A	G19918847A	TXNRD2	NM_006440.5(TXNRD2):c.374+13C>T	noncoding	Benign
22	19918988	G	A	G19918988A	TXNRD2	NM_006440.5(TXNRD2):c.246C>T:p.Leu82=	coding	Benign
22	19919562	G	A	G19919562A	TXNRD2	NM_006440.5(TXNRD2):c.210C>T:p.Tyr70=	coding	Benign
22	19919576	C	A	C19919576A	TXNRD2	NM_006440.5(TXNRD2):c.196G>T:p.Ala66Ser	coding	Benign
22	19919595	G	A	G19919595A	TXNRD2	NM_006440.5(TXNRD2):c.177C>T:p.Ala59=	coding	Benign
22	19919669	A	G	A19919669G	TXNRD2	NM_006440.5(TXNRD2):c.173-70T>C	noncoding	Benign
22	19919823	T	C	T19919823C	TXNRD2	NM_006440.5(TXNRD2):c.173-224A>G	noncoding	Benign
22	19931092	T	A	T19931092A	TXNRD2	NM_006440.5(TXNRD2):c.110A>T:p.Gln37Leu	coding	Benign
22	19941736	G	T	G19941736T	TXNRD2	NM_006440.5(TXNRD2):c.68C>A:p.Ala23Glu	coding	Benign/Likely_benign
22	19942028	A	G	A19942028G	TXNRD2	NM_000754.4(COMT):c.-92+131A>G	noncoding	Benign
22	19962643	C	T	C19962643T	COMT	NM_000754.4(COMT):c.117C>T:p.Asn39=	coding	Benign
22	19962712	C	T	C19962712T	COMT	NM_000754.3(COMT):c.186C>T:p.His62=	coding	Benign
22	19962824	C	T	C19962824T	COMT	NM_000754.4(COMT):c.289+9C>T	noncoding	Benign
22	19963580	G	A	G19963580A	COMT	NM_000754.4(COMT):c.304G>A:p.Ala102Thr	coding	Benign
22	19963684	C	G	C19963684G	COMT	NM_000754.3(COMT):c.408C>G:p.Leu136=	coding	Benign
22	19963714	C	T	C19963714T	COMT	NM_000754.4(COMT):c.438C>T:p.Ala146=	coding	Benign
22	19964194	G	A	G19964194A	COMT	NM_000754.4(COMT):c.510G>A:p.Gln170=	coding	Benign
22	19971933	G	A	G19971933A	ARVCF	NM_001670.3(ARVCF):c.2734C>T:p.Arg912Trp	coding	Benign
22	19971941	C	T	C19971941T	ARVCF	NM_001670.3(ARVCF):c.2726G>A:p.Arg909Gln	coding	Benign
22	19972976	C	T	C19972976T	ARVCF	NM_001670.3(ARVCF):c.2499G>A:p.Lys833=	coding	Benign
22	19973143	G	A	G19973143A	ARVCF	NM_001670.3(ARVCF):c.2414C>T:p.Ala805Val	coding	Benign
22	19973199	G	A	G19973199A	ARVCF	NM_001670.3(ARVCF):c.2358C>T:p.Ile786=	coding	Benign
22	19974217	G	A	G19974217A	ARVCF	NM_001670.3(ARVCF):c.1983C>T:p.Pro661=	coding	Benign
22	19978040	C	T	C19978040T	ARVCF	NM_001670.3(ARVCF):c.1616G>A:p.Arg539Gln	coding	Benign/Likely_benign
22	19979039	C	T	C19979039T	ARVCF	NM_001670.3(ARVCF):c.1438G>A:p.Val480Ile	coding	Benign
22	19979087	G	A	G19979087A	ARVCF	NM_001670.3(ARVCF):c.1397-7C>T	noncoding	Benign
22	19980044	G	A	G19980044A	ARVCF	NM_001670.3(ARVCF):c.1095C>T:p.Ala365=	coding	Benign
22	19981333	C	T	C19981333T	ARVCF	NM_001670.3(ARVCF):c.774G>A:p.Pro258=	coding	Benign
22	19981972	G	T	G19981972T	ARVCF	NM_001670.3(ARVCF):c.330C>A:p.Val110=	coding	Benign
22	19990695	G	A	G19990695A	ARVCF	NM_001670.3(ARVCF):c.100C>T:p.Arg34Trp	coding	Benign
22	20036651	A	G	A20036651G	TANGO2	NM_152906.7(TANGO2):c.-39-109A>G	noncoding	Benign
22	20043226	C	A	C20043226A	TANGO2	NM_152906.7(TANGO2):c.57-129C>A	noncoding	Benign
22	20043392	C	T	C20043392T	TANGO2	NM_152906.7(TANGO2):c.94C>T:p.Arg32Ter	coding	Pathogenic
22	20043457	C	T	C20043457T	TANGO2	NM_152906.7(TANGO2):c.145+14C>T	noncoding	Benign
22	20043493	G	C	G20043493C	TANGO2	NM_152906.7(TANGO2):c.145+50G>C	noncoding	Benign
22	20043579	G	A	G20043579A	TANGO2	NM_152906.7(TANGO2):c.145+136G>A	noncoding	Benign
22	20052575	C	T	C20052575T	TANGO2	NM_152906.7(TANGO2):c.256C>T:p.Arg86Ter	coding	Pathogenic
22	20052697	C	T	C20052697T	TANGO2	NM_152906.7(TANGO2):c.265+113C>T	noncoding	Benign
22	20055980	C	T	C20055980T	TANGO2	NM_152906.7(TANGO2):c.418C>T:p.Arg140Ter	coding	Pathogenic
22	20055981	G	A	G20055981A	TANGO2	NM_152906.7(TANGO2):c.419G>A:p.Arg140Gln	coding	Benign/Likely_benign
22	20056015	T	A	T20056015A	TANGO2	NM_152906.7(TANGO2):c.451+2T>A	noncoding	Pathogenic
22	20061538	G	A	G20061538A	TANGO2	NM_152906.7(TANGO2):c.460G>A:p.Gly154Arg	coding	Pathogenic
22	20061684	G	A	G20061684A	TANGO2	NM_152906.7(TANGO2):c.605+1G>A	coding	Pathogenic/Likely_pathogenic
22	20061684	G	C	G20061684C	TANGO2	NM_152906.7(TANGO2):c.605+1G>C	coding	Pathogenic
22	20061817	T	C	T20061817C	TANGO2	NM_152906.7(TANGO2):c.605+134T>C	noncoding	Benign
22	20061931	A	G	A20061931G	TANGO2	NM_152906.7(TANGO2):c.605+248A>G	noncoding	Benign
22	20061942	T	C	T20061942C	TANGO2	NM_152906.7(TANGO2):c.605+259T>C	noncoding	Benign
22	20061972	G	A	G20061972A	TANGO2	NM_152906.7(TANGO2):c.605+289G>A	noncoding	Benign
22	20063360	G	A	G20063360A	TANGO2	NM_152906.7(TANGO2):c.628G>A:p.Glu210Lys	coding	Benign
22	20064566	T	G	T20064566G	TANGO2	NM_152906.7(TANGO2):c.735T>G:p.Asp245Glu	coding	Benign
22	20064620	C	T	C20064620T	TANGO2	NM_152906.7(TANGO2):c.789C>T:p.Ser263=	coding	Benign
22	20086407	C	T	C20086407T	DGCR8	NM_022720.7(DGCR8):c.444C>T:p.Cys148=	coding	Benign
22	20087176	C	T	C20087176T	DGCR8	NM_022720.7(DGCR8):c.735C>T:p.Asn245=	coding	Benign
22	20090197	A	C	A20090197C	DGCR8	NM_022720.7(DGCR8):c.1245A>C:p.Ala415=	coding	Benign
22	20090233	C	T	C20090233T	DGCR8	NM_022720.7(DGCR8):c.1281C>T:p.Val427=	coding	Benign
22	20126989	G	A	G20126989A	RANBP1	NM_001278639.2(RANBP1):c.774G>A:p.Ala258=	coding	Benign
22	20319694	G	A	G20319694A	DGCR6L	NM_033257.4(DGCR6L):c.216C>T:p.His72=	coding	Benign
22	20425478	G	C	G20425478C	SCARF2	NM_182895.5(SCARF2):c.2498C>G:p.Ala833Gly	coding	Benign
22	20425532	G	C	G20425532C	SCARF2	NM_182895.5(SCARF2):c.2444C>G:p.Ala815Gly	coding	Benign
22	20427438	G	A	G20427438A	SCARF2	NM_182895.5(SCARF2):c.1653C>T:p.Asp551=	coding	Benign
22	20431099	C	T	C20431099T	SCARF2	NM_182895.5(SCARF2):c.773G>A:p.Cys258Tyr	coding	Pathogenic
22	20431972	A	G	A20431972G	SCARF2	NM_182895.5(SCARF2):c.190T>C:p.Cys64Arg	coding	Pathogenic
22	20709384	G	A	G20709384A	PI4KA	NM_058004.4(PI4KA):c.6174-5C>T	noncoding	Benign
22	20709982	C	T	C20709982T	PI4KA	NM_058004.4(PI4KA):c.6099G>A:p.Ala2033=	coding	Benign
22	20710746	G	A	G20710746A	PI4KA	NM_058004.4(PI4KA):c.6036C>T:p.Pro2012=	coding	Benign/Likely_benign
22	20712689	T	C	T20712689C	PI4KA	NM_058004.4(PI4KA):c.5676+4A>G	noncoding	Benign
22	20713292	C	T	C20713292T	PI4KA	NM_058004.4(PI4KA):c.5560G>A:p.Asp1854Asn	coding	Pathogenic
22	20718704	C	T	C20718704T	PI4KA	NM_058004.4(PI4KA):c.5235G>A:p.Ser1745=	coding	Benign
22	20718710	G	A	G20718710A	PI4KA	NM_058004.4(PI4KA):c.5229C>T:p.Asn1743=	coding	Benign
22	20729323	G	A	G20729323A	PI4KA	NM_058004.4(PI4KA):c.4672C>T:p.Leu1558=	coding	Benign
22	20729920	G	A	G20729920A	PI4KA	NM_058004.4(PI4KA):c.4380C>T:p.Ser1460=	coding	Benign
22	20729932	G	A	G20729932A	PI4KA	NM_058004.4(PI4KA):c.4368C>T:p.Tyr1456=	coding	Benign
22	20734455	C	T	C20734455T	PI4KA	NM_058004.4(PI4KA):c.3840G>A:p.Ser1280=	coding	Benign
22	20751710	C	G	C20751710G	PI4KA	NM_058004.4(PI4KA):c.3033G>C:p.Leu1011=	coding	Benign
22	20765636	G	A	G20765636A	PI4KA	NM_058004.4(PI4KA):c.2386C>T:p.Arg796Ter	coding	Pathogenic
22	20779543	C	A	C20779543A	SERPIND1	NM_000185.4(SERPIND1):c.231C>A:p.Asp77Glu	coding	Benign
22	20779572	G	A	G20779572A	SERPIND1	NM_000185.4(SERPIND1):c.260G>A:p.Ser87Asn	coding	Benign
22	20779779	T	C	T20779779C	SERPIND1	NM_000185.4(SERPIND1):c.467T>C:p.Val156Ala	coding	Benign
22	20779935	G	A	G20779935A	SERPIND1	NM_000185.4(SERPIND1):c.623G>A:p.Arg208His	coding	Benign
22	20785999	T	C	T20785999C	SERPIND1	NM_000185.4(SERPIND1):c.1164-5T>C	noncoding	Benign
22	20786951	C	T	C20786951T	SERPIND1	NM_000185.4(SERPIND1):c.1385C>T:p.Pro462Leu	coding	Pathogenic
22	20799204	C	T	C20799204T	PI4KA	NM_058004.4(PI4KA):c.1893G>A:p.Pro631=	coding	Benign
22	20813361	G	A	G20813361A	PI4KA	NM_058004.4(PI4KA):c.1002C>T:p.Asn334=	coding	Benign
22	20859043	A	T	A20859043T	SNAP29	NM_004782.4(SNAP29):c.-68A>T	noncoding	Benign
22	20859079	C	G	C20859079G	SNAP29	NM_004782.4(SNAP29):c.-32C>G	noncoding	Benign
22	20859092	C	T	C20859092T	SNAP29	NM_004782.4(SNAP29):c.-19C>T	noncoding	Benign
22	20859103	C	G	C20859103G	SNAP29	NM_004782.4(SNAP29):c.-8C>G	noncoding	Benign/Likely_benign
22	20859106	G	A	G20859106A	SNAP29	NM_004782.4(SNAP29):c.-5G>A	noncoding	Benign/Likely_benign
22	20859112	T	C	T20859112C	SNAP29	NM_004782.4(SNAP29):c.2T>C:p.Met1Thr	coding	Pathogenic
22	20859128	A	G	A20859128G	SNAP29	NM_004782.4(SNAP29):c.18A>G:p.Lys6=	coding	Benign
22	20859182	T	A	T20859182A	SNAP29	NM_004782.4(SNAP29):c.72T>A:p.Pro24=	coding	Benign
22	20859195	C	T	C20859195T	SNAP29	NM_004782.4(SNAP29):c.85C>T:p.Arg29Ter	coding	Pathogenic
22	20859240	T	C	T20859240C	SNAP29	NM_004782.4(SNAP29):c.130T>C:p.Tyr44His	coding	Benign/Likely_benign
22	20859344	C	G	C20859344G	SNAP29	NM_004782.4(SNAP29):c.234C>G:p.Ser78=	coding	Benign/Likely_benign
22	20870349	C	T	C20870349T	SNAP29	NM_004782.4(SNAP29):c.250C>T:p.Gln84Ter	coding	Pathogenic
22	20870364	G	A	G20870364A	SNAP29	NM_004782.4(SNAP29):c.265G>A:p.Glu89Lys	coding	Benign/Likely_benign
22	20881101	A	G	A20881101G	SNAP29	NM_004782.4(SNAP29):c.487A>G:p.Ser163Gly	coding	Benign
22	20887959	G	C	G20887959C	SNAP29	NM_004782.4(SNAP29):c.*123G>C	noncoding	Benign
22	20887974	C	T	C20887974T	SNAP29	NM_004782.4(SNAP29):c.*138C>T	noncoding	Benign
22	20888256	A	G	A20888256G	SNAP29	NM_004782.4(SNAP29):c.*420A>G	noncoding	Benign
22	20888357	T	A	T20888357A	SNAP29	NM_004782.4(SNAP29):c.*521T>A	noncoding	Benign
22	20888576	C	T	C20888576T	SNAP29	NM_004782.4(SNAP29):c.*740C>T	noncoding	Benign
22	20888591	A	G	A20888591G	SNAP29	NM_004782.4(SNAP29):c.*755A>G	noncoding	Benign
22	20888965	T	C	T20888965C	SNAP29	NM_004782.4(SNAP29):c.*1129T>C	noncoding	Benign
22	20889326	T	C	T20889326C	SNAP29	NM_004782.4(SNAP29):c.*1490T>C	noncoding	Benign
22	20889355	T	C	T20889355C	SNAP29	NM_004782.4(SNAP29):c.*1519T>C	noncoding	Benign
22	20889399	T	G	T20889399G	SNAP29	NM_004782.4(SNAP29):c.*1563T>G	noncoding	Benign
22	20889941	T	G	T20889941G	SNAP29	NM_004782.4(SNAP29):c.*2105T>G	noncoding	Benign
22	20890097	G	T	G20890097T	SNAP29	NM_004782.4(SNAP29):c.*2261G>T	noncoding	Benign
22	20890387	G	A	G20890387A	SNAP29	NM_004782.4(SNAP29):c.*2551G>A	noncoding	Benign
22	20917970	C	T	C20917970T	CRKL	NM_005207.4(CRKL):c.36C>T:p.Ser12=	coding	Benign
22	20934128	G	A	G20934128A	CRKL	NM_005207.4(CRKL):c.661G>A:p.Gly221Ser	coding	Benign
22	20982073	G	A	G20982073A	LZTR1	NM_006767.3(LZTR1):c.-299G>A	noncoding	Benign
22	20982212	G	C	G20982212C	LZTR1	NM_006767.3(LZTR1):c.-160G>C	noncoding	Benign
22	20982260	A	T	A20982260T	LZTR1	NM_006767.3(LZTR1):c.-112A>T	noncoding	Benign
22	20982334	T	A	T20982334A	LZTR1	NM_006767.4(LZTR1):c.-38T>A	noncoding	Pathogenic
22	20982361	G	A	G20982361A	LZTR1	NM_006767.4(LZTR1):c.-11G>A	noncoding	Benign/Likely_benign
22	20982366	C	T	C20982366T	LZTR1	NM_006767.4(LZTR1):c.-6C>T	noncoding	Benign
22	20982855	C	A	C20982855A	LZTR1	NM_006767.4(LZTR1):c.201-172C>A	noncoding	Benign
22	20982977	G	A	G20982977A	LZTR1	NM_006767.4(LZTR1):c.201-50G>A	noncoding	Benign
22	20983014	C	T	C20983014T	LZTR1	NM_006767.4(LZTR1):c.201-13C>T	noncoding	Benign
22	20983019	C	T	C20983019T	LZTR1	NM_006767.4(LZTR1):c.201-8C>T	noncoding	Benign/Likely_benign
22	20983036	G	A	G20983036A	LZTR1	NM_006767.4(LZTR1):c.210G>A:p.Lys70=	coding	Benign
22	20983096	G	A	G20983096A	LZTR1	NM_006767.4(LZTR1):c.263+7G>A	noncoding	Benign/Likely_benign
22	20985626	T	G	T20985626G	LZTR1	NM_006767.4(LZTR1):c.264-215T>G	noncoding	Benign
22	20985799	T	C	T20985799C	LZTR1	NM_006767.4(LZTR1):c.264-42T>C	noncoding	Benign
22	20985827	C	T	C20985827T	LZTR1	NM_006767.4(LZTR1):c.264-14C>T	noncoding	Benign
22	20985909	C	T	C20985909T	LZTR1	NM_006767.4(LZTR1):c.320+12C>T	noncoding	Benign
22	20986086	C	T	C20986086T	LZTR1	NM_006767.4(LZTR1):c.320+189C>T	noncoding	Benign
22	20987534	C	T	C20987534T	LZTR1	NM_006767.4(LZTR1):c.351C>T:p.Pro117=	coding	Benign
22	20987544	C	G	C20987544G	LZTR1	NM_006767.4(LZTR1):c.361C>G:p.His121Asp	coding	Pathogenic
22	20987548	C	T	C20987548T	LZTR1	NM_006767.4(LZTR1):c.365C>T:p.Ser122Leu	coding	Pathogenic
22	20987552	C	T	C20987552T	LZTR1	NM_006767.4(LZTR1):c.369C>T:p.Ala123=	coding	Benign
22	20987880	G	C	G20987880C	LZTR1	NM_006767.4(LZTR1):c.401-130G>C	noncoding	Benign
22	20988059	C	T	C20988059T	LZTR1	NM_006767.4(LZTR1):c.450C>T:p.Asn150=	coding	Benign
22	20988062	C	T	C20988062T	LZTR1	NM_006767.4(LZTR1):c.453C>T:p.Asp151=	coding	Benign/Likely_benign
22	20988095	G	A	G20988095A	LZTR1	NM_006767.4(LZTR1):c.486G>A:p.Trp162Ter	coding	Pathogenic
22	20988220	C	T	C20988220T	LZTR1	NM_006767.4(LZTR1):c.509+102C>T	noncoding	Benign
22	20988522	C	T	C20988522T	LZTR1	NM_006767.4(LZTR1):c.510-267C>T	noncoding	Benign
22	20988822	G	A	G20988822A	LZTR1	NM_006767.4(LZTR1):c.543G>A:p.Thr181=	coding	Benign/Likely_benign
22	20989102	G	C	G20989102C	LZTR1	NM_006767.4(LZTR1):c.593+230G>C	noncoding	Benign
22	20989659	C	T	C20989659T	LZTR1	NM_006767.4(LZTR1):c.628C>T:p.Arg210Ter	coding	Pathogenic
22	20990303	A	C	A20990303C	LZTR1	NM_006767.4(LZTR1):c.652-83A>C	noncoding	Benign
22	20990376	C	A	C20990376A	LZTR1	NM_006767.4(LZTR1):c.652-10C>A	noncoding	Benign
22	20990400	C	T	C20990400T	LZTR1	NM_006767.4(LZTR1):c.666C>T:p.Gly222=	coding	Benign
22	20990474	G	A	G20990474A	LZTR1	NM_006767.4(LZTR1):c.740G>A:p.Ser247Asn	coding	Pathogenic
22	20990475	C	T	C20990475T	LZTR1	NM_006767.4(LZTR1):c.741C>T:p.Ser247=	coding	Benign
22	20990476	G	A	G20990476A	LZTR1	NM_006767.4(LZTR1):c.742G>A:p.Gly248Arg	coding	Pathogenic/Likely_pathogenic
22	20990526	G	A	G20990526A	LZTR1	NM_006767.4(LZTR1):c.791+1G>A	coding	Pathogenic
22	20990595	C	T	C20990595T	LZTR1	NM_006767.4(LZTR1):c.791+70C>T	noncoding	Benign
22	20990616	A	G	A20990616G	LZTR1	NM_006767.4(LZTR1):c.791+91A>G	noncoding	Benign
22	20990631	G	C	G20990631C	LZTR1	NM_006767.4(LZTR1):c.791+106G>C	noncoding	Benign
22	20991434	C	T	C20991434T	LZTR1	NM_006767.4(LZTR1):c.792-194C>T	noncoding	Benign
22	20991686	C	T	C20991686T	LZTR1	NM_006767.4(LZTR1):c.850C>T:p.Arg284Cys	coding	Pathogenic
22	20991830	G	A	G20991830A	LZTR1	NM_006767.4(LZTR1):c.993+1G>A	coding	Pathogenic
22	20991988	C	T	C20991988T	LZTR1	NM_006767.4(LZTR1):c.993+159C>T	noncoding	Benign
22	20992196	T	C	T20992196C	LZTR1	NM_006767.4(LZTR1):c.994-18T>C	noncoding	Benign
22	20992304	C	T	C20992304T	LZTR1	NM_006767.4(LZTR1):c.1084C>T:p.Arg362Ter	coding	Pathogenic/Likely_pathogenic
22	20992430	A	C	A20992430C	LZTR1	NM_006767.4(LZTR1):c.1149+61A>C	noncoding	Benign
22	20992853	C	T	C20992853T	LZTR1	NM_006767.4(LZTR1):c.1209C>T:p.Phe403=	coding	Benign
22	20993216	C	T	C20993216T	LZTR1	NM_006767.4(LZTR1):c.1260+312C>T	noncoding	Benign
22	20993712	G	A	G20993712A	LZTR1	NM_006767.4(LZTR1):c.1311G>A:p.Trp437Ter	coding	Pathogenic
22	20993737	G	T	G20993737T	LZTR1	NM_006767.4(LZTR1):c.1336G>T:p.Glu446Ter	coding	Pathogenic
22	20993762	C	G	C20993762G	LZTR1	NM_006767.4(LZTR1):c.1353+8C>G	noncoding	Benign/Likely_benign
22	20993771	G	A	G20993771A	LZTR1	NM_006767.4(LZTR1):c.1353+17G>A	noncoding	Benign
22	20993795	T	C	T20993795C	LZTR1	NM_006767.4(LZTR1):c.1353+41T>C	noncoding	Benign
22	20993947	C	T	C20993947T	LZTR1	NM_006767.4(LZTR1):c.1377C>T:p.His459=	coding	Benign/Likely_benign
22	20993965	G	A	G20993965A	LZTR1	NM_006767.4(LZTR1):c.1395G>A:p.Ala465=	coding	Benign/Likely_benign
22	20993977	G	A	G20993977A	LZTR1	NM_006767.4(LZTR1):c.1407G>A:p.Trp469Ter	coding	Pathogenic
22	20994037	C	G	C20994037G	LZTR1	NM_006767.4(LZTR1):c.1449+18C>G	noncoding	Benign
22	20994090	C	T	C20994090T	LZTR1	NM_006767.4(LZTR1):c.1450-14C>T	noncoding	Benign
22	20994184	C	T	C20994184T	LZTR1	NM_006767.4(LZTR1):c.1530C>T:p.His510=	coding	Benign
22	20994273	C	T	C20994273T	LZTR1	NM_006767.4(LZTR1):c.1615+4C>T	noncoding	Benign
22	20994562	T	C	T20994562C	LZTR1	NM_006767.4(LZTR1):c.1620T>C:p.His540=	coding	Benign
22	20994625	C	T	C20994625T	LZTR1	NM_006767.4(LZTR1):c.1683C>T:p.Arg561=	coding	Benign
22	20994652	C	T	C20994652T	LZTR1	NM_006767.4(LZTR1):c.1710C>T:p.Ile570=	coding	Benign
22	20994661	C	T	C20994661T	LZTR1	NM_006767.4(LZTR1):c.1719C>T:p.Ser573=	coding	Benign
22	20994728	G	C	G20994728C	LZTR1	NM_006767.4(LZTR1):c.1785+1G>C	coding	Pathogenic
22	20994748	A	G	A20994748G	LZTR1	NM_006767.4(LZTR1):c.1785+21A>G	noncoding	Benign
22	20995765	C	T	C20995765T	LZTR1	NM_006767.4(LZTR1):c.1962C>T:p.Asp654=	coding	Benign
22	20995810	C	T	C20995810T	LZTR1	NM_006767.4(LZTR1):c.2007C>T:p.Ile669=	coding	Benign/Likely_benign
22	20995825	C	T	C20995825T	LZTR1	NM_006767.4(LZTR1):c.2022C>T:p.Asp674=	coding	Benign/Likely_benign
22	20995996	C	G	C20995996G	LZTR1	NM_006767.4(LZTR1):c.2103C>G:p.Pro701=	coding	Benign
22	20995996	C	T	C20995996T	LZTR1	NM_006767.4(LZTR1):c.2103C>T:p.Pro701=	coding	Benign/Likely_benign
22	20996053	C	T	C20996053T	LZTR1	NM_006767.4(LZTR1):c.2160C>T:p.Phe720=	coding	Benign
22	20996071	C	A	C20996071A	LZTR1	NM_006767.4(LZTR1):c.2178C>A:p.Tyr726Ter	coding	Pathogenic
22	20996080	C	T	C20996080T	LZTR1	NM_006767.4(LZTR1):c.2187C>T:p.Tyr729=	coding	Benign/Likely_benign
22	20996101	C	T	C20996101T	LZTR1	NM_006767.4(LZTR1):c.2208C>T:p.Pro736=	coding	Benign
22	20996125	C	T	C20996125T	LZTR1	NM_006767.4(LZTR1):c.2219+13C>T	noncoding	Benign
22	20996172	A	G	A20996172G	LZTR1	NM_006767.4(LZTR1):c.2219+60A>G	noncoding	Benign
22	20996591	T	C	T20996591C	LZTR1	NM_006767.4(LZTR1):c.2220-105T>C	noncoding	Benign
22	20996647	G	A	G20996647A	LZTR1	NM_006767.4(LZTR1):c.2220-49G>A	noncoding	Benign
22	20996658	A	G	A20996658G	LZTR1	NM_006767.4(LZTR1):c.2220-38A>G	noncoding	Benign
22	20996679	C	A	C20996679A	LZTR1	NM_006767.4(LZTR1):c.2220-17C>A	noncoding	Pathogenic
22	20996729	C	T	C20996729T	LZTR1	NM_006767.4(LZTR1):c.2253C>T:p.Phe751=	coding	Benign
22	20996740	G	A	G20996740A	LZTR1	NM_006767.4(LZTR1):c.2264G>A:p.Arg755Gln	coding	Pathogenic
22	20996915	A	G	A20996915G	LZTR1	NM_006767.4(LZTR1):c.2355A>G:p.Ala785=	coding	Benign/Likely_benign
22	20996933	C	T	C20996933T	LZTR1	NM_006767.4(LZTR1):c.2373C>T:p.His791=	coding	Benign/Likely_benign
22	20997213	C	T	C20997213T	LZTR1	NM_006767.4(LZTR1):c.2407-19C>T	noncoding	Benign
22	20997336	C	T	C20997336T	LZTR1	NM_006767.4(LZTR1):c.2511C>T:p.Gly837=	coding	Benign
22	20997339	C	T	C20997339T	LZTR1	NM_006767.4(LZTR1):c.2514C>T:p.Ala838=	coding	Benign
22	21031138	G	C	G21031138C	SLC7A4	NM_004173.3(SLC7A4):c.675C>G:p.Asp225Glu	coding	Benign
22	21031672	C	T	C21031672T	SLC7A4	NM_004173.3(SLC7A4):c.141G>A:p.Val47=	coding	Benign
22	21053362	A	G	A21053362G	LRRC74B	NM_001291006.2(LRRC74B):c.735A>G:p.Ala245=	coding	Benign
22	21445840	C	T	C21445840T	HIC2	NM_015094.3(HIC2):c.945C>T:p.His315=	coding	Benign
22	22548334	A	G	A22548334G	PRAME	NM_206956.3(PRAME):c.1263T>C:p.Ser421=	coding	Benign
22	22549913	G	A	G22549913A	PRAME	NM_206956.3(PRAME):c.766C>T:p.Leu256=	coding	Benign
22	22550068	T	C	T22550068C	PRAME	NM_206956.3(PRAME):c.611A>G:p.Asn204Ser	coding	Benign
22	23096349	C	T	C23096349T	GNAZ	NM_002073.4(GNAZ):c.654C>T:p.Gly218=	coding	Benign
22	23181098	G	T	G23181098T	BCR	NM_004327.4(BCR):c.138G>T:p.Glu46Asp	coding	Benign
22	23181122	C	T	C23181122T	BCR	NM_004327.4(BCR):c.162C>T:p.Phe54=	coding	Benign
22	23181415	C	T	C23181415T	BCR	NM_004327.4(BCR):c.455C>T:p.Ala152Val	coding	Benign
22	23181457	G	A	G23181457A	BCR	NM_004327.4(BCR):c.497G>A:p.Gly166Asp	coding	Benign
22	23181566	C	T	C23181566T	BCR	NM_004327.4(BCR):c.606C>T:p.Ser202=	coding	Benign
22	23181782	G	A	G23181782A	BCR	NM_004327.4(BCR):c.822G>A:p.Leu274=	coding	Benign
22	23181785	G	A	G23181785A	BCR	NM_004327.4(BCR):c.825G>A:p.Glu275=	coding	Benign
22	23181882	C	T	C23181882T	BCR	NM_004327.4(BCR):c.922C>T:p.Arg308Cys	coding	Benign
22	23253809	C	T	C23253809T	BCR	NM_004327.4(BCR):c.1290C>T:p.Phe430=	coding	Benign
22	23253947	G	A	G23253947A	BCR	NM_004327.4(BCR):c.1428G>A:p.Ala476=	coding	Benign
22	23268458	C	A	C23268458A	BCR	NM_004327.4(BCR):c.1803C>A:p.Ala601=	coding	Benign
22	23283970	C	A	C23283970A	BCR	NM_004327.4(BCR):c.2116-7C>A	noncoding	Benign
22	23283971	C	G	C23283971G	BCR	NM_004327.4(BCR):c.2116-6C>G	noncoding	Benign
22	23287285	G	T	G23287285T	BCR	NM_004327.4(BCR):c.2526+7G>T	noncoding	Benign
22	23288126	T	C	T23288126C	BCR	NM_004327.4(BCR):c.2556T>C:p.Tyr852=	coding	Benign
22	23290335	G	A	G23290335A	BCR	NM_004327.4(BCR):c.2708-4G>A	noncoding	Benign
22	23292603	G	A	G23292603A	BCR	NM_004327.4(BCR):c.2845G>A:p.Val949Ile	coding	Benign/Likely_benign
22	23309432	G	A	G23309432A	BCR	NM_004327.4(BCR):c.3021G>A:p.Pro1007=	coding	Benign
22	23310316	T	C	T23310316C	BCR	NM_004327.4(BCR):c.3073-8T>C	noncoding	Benign
22	23311693	G	A	G23311693A	BCR	NM_004327.4(BCR):c.3183-4G>A	noncoding	Benign
22	23312966	G	A	G23312966A	BCR	NM_004327.4(BCR):c.3402G>A:p.Glu1134=	coding	Benign
22	23314612	C	T	C23314612T	BCR	NM_004327.4(BCR):c.3624C>T:p.Gly1208=	coding	Benign
22	23315477	C	T	C23315477T	BCR	NM_004327.4(BCR):c.3771C>T:p.Ala1257=	coding	Benign
22	23573342	C	T	C23573342T	IGLL1	NM_020070.4(IGLL1):c.566G>A:p.Arg189His	coding	Benign
22	23573359	G	A	G23573359A	IGLL1	NM_020070.4(IGLL1):c.549C>T:p.Pro183=	coding	Benign
22	23573388	C	T	C23573388T	IGLL1	NM_020070.4(IGLL1):c.520G>A:p.Ala174Thr	coding	Benign
22	23573396	T	C	T23573396C	IGLL1	NM_020070.4(IGLL1):c.512A>G:p.Asn171Ser	coding	Benign
22	23573401	G	A	G23573401A	IGLL1	NM_020070.4(IGLL1):c.507C>T:p.Ser169=	coding	Benign
22	23573416	C	T	C23573416T	IGLL1	NM_020070.4(IGLL1):c.492G>A:p.Thr164=	coding	Benign
22	23573423	A	G	A23573423G	IGLL1	NM_020070.4(IGLL1):c.485T>C:p.Met162Thr	coding	Benign
22	23573423	A	T	A23573423T	IGLL1	NM_020070.4(IGLL1):c.485T>A:p.Met162Lys	coding	Benign
22	23573433	C	T	C23573433T	IGLL1	NM_020070.4(IGLL1):c.475G>A:p.Gly159Ser	coding	Benign
22	23573444	G	A	G23573444A	IGLL1	NM_020070.4(IGLL1):c.464C>T:p.Pro155Leu	coding	Benign
22	23573485	A	G	A23573485G	IGLL1	NM_020070.4(IGLL1):c.423T>C:p.Tyr141=	coding	Benign
22	23573515	A	G	A23573515G	IGLL1	NM_020070.4(IGLL1):c.393T>C:p.Ala131=	coding	Benign
22	23574980	C	T	C23574980T	IGLL1	NM_020070.4(IGLL1):c.309G>A:p.Gln103=	coding	Benign
22	23574989	G	A	G23574989A	IGLL1	NM_020070.4(IGLL1):c.300C>T:p.Ser100=	coding	Benign
22	23575005	G	T	G23575005T	IGLL1	NM_020070.4(IGLL1):c.284C>A:p.Thr95Lys	coding	Benign
22	23575013	G	A	G23575013A	IGLL1	NM_020070.4(IGLL1):c.276C>T:p.Asn92=	coding	Benign
22	23575091	A	T	A23575091T	IGLL1	NM_020070.4(IGLL1):c.207-9T>A	noncoding	Benign
22	23580094	C	T	C23580094T	IGLL1	NM_020070.4(IGLL1):c.97G>A:p.Val33Met	coding	Benign
22	23580127	G	A	G23580127A	IGLL1	NM_020070.4(IGLL1):c.64C>T:p.Gln22Ter	coding	Pathogenic
22	23744718	C	T	C23744718T	ZNF70	NM_021916.4(ZNF70):c.423G>A:p.Ala141=	coding	Benign
22	23744757	G	A	G23744757A	ZNF70	NM_021916.4(ZNF70):c.384C>T:p.Asn128=	coding	Benign
22	23744931	G	A	G23744931A	ZNF70	NM_021916.4(ZNF70):c.210C>T:p.Cys70=	coding	Benign
22	23766207	C	T	C23766207T	CHCHD10	NM_213720.3(CHCHD10):c.330G>A:p.Leu110=	coding	Benign
22	23766225	G	A	G23766225A	CHCHD10	NM_213720.3(CHCHD10):c.312C>T:p.Tyr104=	coding	Benign
22	23766251	G	T	G23766251T	CHCHD10	NM_213720.3(CHCHD10):c.286C>A:p.Pro96Thr	coding	Benign
22	23767363	T	C	T23767363C	CHCHD10	NM_213720.3(CHCHD10):c.261+11A>G	noncoding	Benign
22	23767401	C	T	C23767401T	CHCHD10	NM_213720.3(CHCHD10):c.234G>A:p.Ser78=	coding	Benign
22	23767438	C	A	C23767438A	CHCHD10	NM_213720.3(CHCHD10):c.197G>T:p.Gly66Val	coding	Pathogenic
22	23767459	G	A	G23767459A	CHCHD10	NM_213720.3(CHCHD10):c.176C>T:p.Ser59Leu	coding	Pathogenic/Likely_pathogenic
22	23767499	C	A	C23767499A	CHCHD10	NM_213720.3(CHCHD10):c.136G>T:p.Ala46Ser	coding	Benign
22	23767535	G	A	G23767535A	CHCHD10	NM_213720.3(CHCHD10):c.100C>T:p.Pro34Ser	coding	Benign/Likely_benign
22	23767587	T	G	T23767587G	CHCHD10	NM_213720.3(CHCHD10):c.48A>C:p.Pro16=	coding	Benign
22	23767591	C	A	C23767591A	CHCHD10	NM_213720.3(CHCHD10):c.44G>T:p.Arg15Leu	coding	Pathogenic
22	23767600	G	C	G23767600C	CHCHD10	NM_213720.3(CHCHD10):c.42-7C>G	noncoding	Benign
22	23767827	C	T	C23767827T	CHCHD10	NM_213720.3(CHCHD10):c.41+7G>A	noncoding	Benign
22	23780998	C	T	C23780998T	MMP11	NM_005940.5(MMP11):c.756C>T:p.Gly252=	coding	Benign
22	23782284	C	A	C23782284A	MMP11	NM_005940.5(MMP11):c.1134C>A:p.Thr378=	coding	Benign
22	23786685	G	A	G23786685A	SMARCB1	NC_000022.11:g.23786685G>A	noncoding	Benign
22	23786743	C	T	C23786743T	SMARCB1	NC_000022.11:g.23786743C>T	noncoding	Benign
22	23786818	T	G	T23786818G	SMARCB1	NC_000022.11:g.23786818T>G	noncoding	Benign
22	23786942	G	T	G23786942T	SMARCB1	NC_000022.11:g.23786942G>T	noncoding	Benign
22	23786986	G	A	G23786986A	SMARCB1	NM_003073.5(SMARCB1):c.-184G>A	noncoding	Benign
22	23787053	C	T	C23787053T	SMARCB1	NM_003073.5(SMARCB1):c.-117C>T	noncoding	Benign
22	23787055	C	T	C23787055T	SMARCB1	NM_003073.5(SMARCB1):c.-115C>T	noncoding	Benign
22	23787139	C	T	C23787139T	SMARCB1	NM_003073.5(SMARCB1):c.-31C>T	noncoding	Benign
22	23787153	C	T	C23787153T	SMARCB1	NM_003073.5(SMARCB1):c.-17C>T	noncoding	Benign
22	23787170	A	G	A23787170G	SMARCB1	NM_003073.5(SMARCB1):c.1A>G:p.Met1Val	coding	Benign/Likely_benign
22	23787203	C	T	C23787203T	SMARCB1	NM_003073.5(SMARCB1):c.34C>T:p.Gln12Ter	coding	Pathogenic
22	23787221	C	T	C23787221T	SMARCB1	NM_003073.5(SMARCB1):c.52C>T:p.Gln18Ter	coding	Pathogenic
22	23787261	A	T	A23787261T	SMARCB1	NM_003073.5(SMARCB1):c.92A>T:p.Glu31Val	coding	Pathogenic
22	23787306	G	C	G23787306C	SMARCB1	NM_003073.5(SMARCB1):c.93+44G>C	noncoding	Benign
22	23791780	C	T	C23791780T	SMARCB1	NM_003073.5(SMARCB1):c.118C>T:p.Arg40Ter	coding	Pathogenic
22	23791805	C	T	C23791805T	SMARCB1	NM_003073.5(SMARCB1):c.143C>T:p.Pro48Leu	coding	Pathogenic
22	23791814	G	A	G23791814A	SMARCB1	NM_003073.5(SMARCB1):c.152G>A:p.Trp51Ter	coding	Pathogenic
22	23791819	C	T	C23791819T	SMARCB1	NM_003073.5(SMARCB1):c.157C>T:p.Arg53Ter	coding	Pathogenic
22	23791846	A	T	A23791846T	SMARCB1	NM_003073.5(SMARCB1):c.184A>T:p.Lys62Ter	coding	Pathogenic
22	23792207	T	C	T23792207C	SMARCB1	NM_003073.5(SMARCB1):c.232+313T>C	noncoding	Benign
22	23793593	C	T	C23793593T	SMARCB1	NM_003073.5(SMARCB1):c.267C>T:p.Thr89=	coding	Benign/Likely_benign
22	23793689	G	A	G23793689A	SMARCB1	NM_003073.5(SMARCB1):c.362+1G>A	coding	Pathogenic
22	23793695	C	T	C23793695T	SMARCB1	NM_003073.5(SMARCB1):c.362+7C>T	noncoding	Benign/Likely_benign
22	23793751	A	G	A23793751G	SMARCB1	NM_003073.5(SMARCB1):c.362+63A>G	noncoding	Benign
22	23801019	A	G	A23801019G	SMARCB1	NM_003073.5(SMARCB1):c.438A>G:p.Pro146=	coding	Benign/Likely_benign
22	23803131	C	T	C23803131T	SMARCB1	NM_003073.5(SMARCB1):c.501-164C>T	noncoding	Benign
22	23803294	G	C	G23803294C	SMARCB1	NM_003073.5(SMARCB1):c.501-1G>C	noncoding	Pathogenic
22	23803338	C	T	C23803338T	SMARCB1	NM_003073.5(SMARCB1):c.544C>T:p.Gln182Ter	coding	Pathogenic
22	23803395	C	T	C23803395T	SMARCB1	NM_003073.5(SMARCB1):c.601C>T:p.Arg201Ter	coding	Pathogenic
22	23803435	C	T	C23803435T	SMARCB1	NM_003073.5(SMARCB1):c.628+13C>T	noncoding	Benign/Likely_benign
22	23803540	C	T	C23803540T	SMARCB1	NM_003073.5(SMARCB1):c.628+118C>T	noncoding	Benign
22	23803622	T	C	T23803622C	SMARCB1	NM_003073.5(SMARCB1):c.628+200T>C	noncoding	Benign
22	23816493	C	T	C23816493T	SMARCB1	NM_003073.5(SMARCB1):c.629-277C>T	noncoding	Benign
22	23816510	G	C	G23816510C	SMARCB1	NM_003073.5(SMARCB1):c.629-260G>C	noncoding	Benign
22	23816568	T	G	T23816568G	SMARCB1	NM_003073.5(SMARCB1):c.629-202T>G	noncoding	Benign
22	23816708	A	G	A23816708G	SMARCB1	NM_003073.5(SMARCB1):c.629-62A>G	noncoding	Benign
22	23817057	G	A	G23817057A	SMARCB1	NM_003073.5(SMARCB1):c.795+121G>A	noncoding	Benign
22	23817089	A	G	A23817089G	SMARCB1	NM_003073.5(SMARCB1):c.795+153A>G	noncoding	Benign
22	23817120	A	T	A23817120T	SMARCB1	NM_003073.5(SMARCB1):c.795+184A>T	noncoding	Benign
22	23817134	T	C	T23817134C	SMARCB1	NM_003073.5(SMARCB1):c.795+198T>C	noncoding	Benign
22	23817139	C	T	C23817139T	SMARCB1	NM_003073.5(SMARCB1):c.795+203C>T	noncoding	Benign
22	23824979	G	A	G23824979A	SMARCB1	NM_003073.5(SMARCB1):c.796-246G>A	noncoding	Benign
22	23824998	C	T	C23824998T	SMARCB1	NM_003073.5(SMARCB1):c.796-227C>T	noncoding	Benign
22	23825326	G	A	G23825326A	SMARCB1	NM_003073.5(SMARCB1):c.897G>A:p.Ser299=	coding	Benign
22	23825407	C	T	C23825407T	SMARCB1	NM_003073.5(SMARCB1):c.978C>T:p.Tyr326=	coding	Benign/Likely_benign
22	23825416	G	A	G23825416A	SMARCB1	NM_003073.5(SMARCB1):c.986+1G>A	coding	Pathogenic
22	23825715	C	G	C23825715G	SMARCB1	NM_003073.5(SMARCB1):c.986+300C>G	noncoding	Benign
22	23833433	G	A	G23833433A	SMARCB1	NM_003073.5(SMARCB1):c.987-139G>A	noncoding	Benign
22	23833463	C	T	C23833463T	SMARCB1	NM_003073.5(SMARCB1):c.987-109C>T	noncoding	Benign
22	23833567	C	T	C23833567T	SMARCB1	NM_003073.5(SMARCB1):c.987-5C>T	noncoding	Benign/Likely_benign
22	23833681	C	T	C23833681T	SMARCB1	NM_003073.5(SMARCB1):c.1096C>T:p.Arg366Cys	coding	Pathogenic
22	23833683	C	T	C23833683T	SMARCB1	NM_003073.5(SMARCB1):c.1098C>T:p.Arg366=	coding	Benign/Likely_benign
22	23833701	G	A	G23833701A	SMARCB1	NM_003073.5(SMARCB1):c.1116G>A:p.Thr372=	coding	Benign/Likely_benign
22	23833704	G	A	G23833704A	SMARCB1	NM_003073.5(SMARCB1):c.1118+1G>A	coding	Pathogenic
22	23833866	G	T	G23833866T	SMARCB1	NM_003073.5(SMARCB1):c.1118+163G>T	noncoding	Benign
22	23833977	G	A	G23833977A	SMARCB1	NM_003073.5(SMARCB1):c.1119-164G>A	noncoding	Benign
22	23834100	G	A	G23834100A	SMARCB1	NM_003073.5(SMARCB1):c.1119-41G>A	noncoding	Benign
22	23834142	C	T	C23834142T	SMARCB1	NM_003073.5(SMARCB1):c.1120C>T:p.Arg374Trp	coding	Pathogenic
22	23834143	G	A	G23834143A	SMARCB1	NM_003073.5(SMARCB1):c.1121G>A:p.Arg374Gln	coding	Pathogenic/Likely_pathogenic
22	23834153	T	C	T23834153C	SMARCB1	NM_003073.5(SMARCB1):c.1131T>C:p.Arg377=	coding	Benign/Likely_benign
22	23834213	T	G	T23834213G	SMARCB1	NM_003073.5(SMARCB1):c.*33T>G	noncoding	Benign
22	23834262	C	T	C23834262T	SMARCB1	NM_003073.5(SMARCB1):c.*82C>T	noncoding	Pathogenic
22	23834473	C	T	C23834473T	SMARCB1	NM_003073.5(SMARCB1):c.*293C>T	noncoding	Benign
22	23895031	C	T	C23895031T	MIF	NM_002415.2(MIF):c.282-9C>T	coding	Benign
22	23895033	C	A	C23895033A	MIF	NM_002415.2(MIF):c.282-7C>A	coding	Benign
22	24055041	C	A	C24055041A	CABIN1	NM_012295.4(CABIN1):c.975C>A:p.Ser325Arg	coding	Benign
22	24055149	C	T	C24055149T	CABIN1	NM_012295.4(CABIN1):c.1083C>T:p.Gly361=	coding	Benign
22	24056370	A	G	A24056370G	CABIN1	NM_012295.4(CABIN1):c.1262+10A>G	noncoding	Benign
22	24062975	C	T	C24062975T	CABIN1	NM_012295.4(CABIN1):c.1713C>T:p.Cys571=	coding	Benign
22	24072410	A	C	A24072410C	CABIN1	NM_012295.4(CABIN1):c.2532A>C:p.Ser844=	coding	Benign
22	24072498	C	T	C24072498T	CABIN1	NM_012295.4(CABIN1):c.2620C>T:p.Pro874Ser	coding	Benign
22	24087506	G	A	G24087506A	CABIN1	NM_012295.4(CABIN1):c.3318G>A:p.Lys1106=	coding	Benign
22	24091597	C	T	C24091597T	CABIN1	NM_012295.4(CABIN1):c.3540C>T:p.Arg1180=	coding	Benign
22	24113695	G	A	G24113695A	CABIN1	NM_012295.4(CABIN1):c.4247G>A:p.Ser1416Asn	coding	Benign
22	24165566	G	A	G24165566A	CABIN1	NM_012295.4(CABIN1):c.4947G>A:p.Ala1649=	coding	Benign
22	24171923	C	G	C24171923G	CABIN1	NM_012295.4(CABIN1):c.5968C>G:p.Gln1990Glu	coding	Benign
22	24177625	C	T	C24177625T	CABIN1	NM_012295.4(CABIN1):c.6327C>T:p.Ala2109=	coding	Benign
22	24181563	C	T	C24181563T	SUSD2	NM_019601.4(SUSD2):c.44C>T:p.Thr15Ile	coding	Benign
22	24184188	G	A	G24184188A	SUSD2	NM_019601.4(SUSD2):c.492G>A:p.Thr164=	coding	Benign
22	24185548	C	T	C24185548T	SUSD2	NM_019601.4(SUSD2):c.1047C>T:p.His349=	coding	Benign
22	24186268	C	T	C24186268T	SUSD2	NM_019601.4(SUSD2):c.1495C>T:p.Arg499Cys	coding	Benign
22	24188053	C	T	C24188053T	SUSD2	NM_019601.4(SUSD2):c.2259C>T:p.Asn753=	coding	Benign
22	24225572	C	T	C24225572T	GGT5	NM_004121.3(GGT5):c.1310G>A:p.Arg437Gln	coding	Benign
22	24226156	G	A	G24226156A	GGT5	NM_004121.3(GGT5):c.1149C>T:p.Gly383=	coding	Benign
22	24232094	C	T	C24232094T	GGT5	NM_004121.3(GGT5):c.711G>A:p.Thr237=	coding	Benign
22	24233493	G	T	G24233493T	GGT5	NM_004121.3(GGT5):c.400+5C>A	noncoding	Benign
22	24302276	T	C	T24302276C	SPECC1L	NM_015330.5(SPECC1L):c.45T>C:p.Ser15=	coding	Benign
22	24313452	C	T	C24313452T	SPECC1L	NM_015330.5(SPECC1L):c.293C>T:p.Ser98Phe	coding	Benign/Likely_benign
22	24321290	A	G	A24321290G	SPECC1L	NM_015330.5(SPECC1L):c.310A>G:p.Thr104Ala	coding	Benign
22	24321443	C	T	C24321443T	SPECC1L	NM_015330.5(SPECC1L):c.463C>T:p.Arg155Cys	coding	Benign
22	24321542	C	T	C24321542T	SPECC1L	NM_015330.5(SPECC1L):c.562C>T:p.Leu188Phe	coding	Benign/Likely_benign
22	24321669	C	T	C24321669T	SPECC1L	NM_015330.5(SPECC1L):c.689C>T:p.Thr230Ile	coding	Benign
22	24322169	A	C	A24322169C	SPECC1L	NM_015330.5(SPECC1L):c.1189A>C:p.Thr397Pro	coding	Pathogenic
22	24322224	A	C	A24322224C	SPECC1L	NM_015330.5(SPECC1L):c.1244A>C:p.Gln415Pro	coding	Pathogenic
22	24322238	G	A	G24322238A	SPECC1L	NM_015330.5(SPECC1L):c.1258G>A:p.Glu420Lys	coding	Pathogenic
22	24322240	G	C	G24322240C	SPECC1L	NM_015330.5(SPECC1L):c.1260G>C:p.Glu420Asp	coding	Pathogenic
22	24322309	T	G	T24322309G	SPECC1L	NM_015330.5(SPECC1L):c.1329T>G:p.Val443=	coding	Benign
22	24322339	C	T	C24322339T	SPECC1L	NM_015330.5(SPECC1L):c.1359C>T:p.Ser453=	coding	Benign
22	24322440	G	A	G24322440A	SPECC1L	NM_015330.5(SPECC1L):c.1460G>A:p.Arg487His	coding	Benign/Likely_benign
22	24322522	G	A	G24322522A	SPECC1L	NM_015330.5(SPECC1L):c.1542G>A:p.Gln514=	coding	Benign
22	24322633	G	A	G24322633A	SPECC1L	NM_015330.5(SPECC1L):c.1653G>A:p.Glu551=	coding	Benign
22	24322709	A	C	A24322709C	SPECC1L	NM_015330.5(SPECC1L):c.1729A>C:p.Asn577His	coding	Benign
22	24328848	A	G	A24328848G	SPECC1L	NM_015330.5(SPECC1L):c.2149A>G:p.Thr717Ala	coding	Benign
22	24328904	C	T	C24328904T	SPECC1L	NM_015330.5(SPECC1L):c.2205C>T:p.Leu735=	coding	Benign
22	24330361	C	T	C24330361T	SPECC1L	NM_015330.5(SPECC1L):c.2326C>T:p.Arg776Cys	coding	Benign
22	24334580	A	G	A24334580G	SPECC1L	NM_015330.5(SPECC1L):c.2560+7A>G	noncoding	Benign
22	24347122	C	T	C24347122T	SPECC1L	NM_015330.5(SPECC1L):c.2689C>T:p.Pro897Ser	coding	Benign
22	24365499	G	A	G24365499A	SPECC1L	NM_015330.5(SPECC1L):c.2851=:p.Met951=	coding	Benign
22	24365530	C	T	C24365530T	SPECC1L	NM_015330.5(SPECC1L):c.2882C>T:p.Ala961Val	coding	Benign
22	24365531	G	A	G24365531A	SPECC1L	NM_015330.5(SPECC1L):c.2883G>A:p.Ala961=	coding	Benign
22	24369246	T	C	T24369246C	SPECC1L	NM_015330.5(SPECC1L):c.3013T>C:p.Leu1005=	coding	Benign
22	24412690	G	A	G24412690A	SPECC1L	NM_015330.5(SPECC1L):c.3247G>A:p.Gly1083Ser	coding	Pathogenic
22	24414562	G	A	G24414562A	SPECC1L	NM_015330.5(SPECC1L):c.3293G>A:p.Arg1098Gln	coding	Pathogenic
22	24414566	C	T	C24414566T	SPECC1L	NM_015330.5(SPECC1L):c.3297C>T:p.Pro1099=	coding	Benign
22	24440682	C	T	C24440682T	ADORA2A	NM_000675.6(ADORA2A):c.432C>T:p.Asn144=	coding	Benign
22	24440689	G	A	G24440689A	ADORA2A	NM_000675.6(ADORA2A):c.439G>A:p.Gly147Ser	coding	Benign
22	24440961	C	A	C24440961A	ADORA2A	NM_000675.6(ADORA2A):c.711C>A:p.Ile237=	coding	Benign
22	24441135	C	T	C24441135T	ADORA2A	NM_000675.6(ADORA2A):c.885C>T:p.Phe295=	coding	Benign
22	24441294	C	T	C24441294T	ADORA2A	NM_000675.6(ADORA2A):c.1044C>T:p.Asn348=	coding	Benign
22	24495324	C	G	C24495324G	UPB1	NM_016327.2(UPB1):c.-80C>G	noncoding	Benign
22	24495387	A	T	A24495387T	UPB1	NM_016327.3(UPB1):c.-17A>T	noncoding	Benign
22	24515281	C	T	C24515281T	UPB1	NM_016327.3(UPB1):c.702C>T:p.Tyr234=	coding	Benign
22	24520441	C	T	C24520441T	UPB1	NM_016327.3(UPB1):c.846C>T:p.Phe282=	coding	Benign
22	24520469	G	A	G24520469A	UPB1	NM_016327.3(UPB1):c.873+1G>A	coding	Pathogenic
22	24520477	C	T	C24520477T	UPB1	NM_016327.3(UPB1):c.873+9C>T	noncoding	Benign
22	24523617	A	G	A24523617G	UPB1	NM_016327.3(UPB1):c.917-2A>G	noncoding	Pathogenic
22	24523659	G	A	G24523659A	UPB1	NM_016327.3(UPB1):c.957G>A:p.Val319=	coding	Benign/Likely_benign
22	24523678	C	A	C24523678A	UPB1	NM_016327.3(UPB1):c.976C>A:p.Arg326=	coding	Benign
22	24525725	T	C	T24525725C	UPB1	NM_016327.3(UPB1):c.1086T>C:p.Tyr362=	coding	Benign
22	24525746	C	T	C24525746T	UPB1	NM_016327.3(UPB1):c.1107C>T:p.Leu369=	coding	Benign/Likely_benign
22	24525761	G	A	G24525761A	UPB1	NM_016327.3(UPB1):c.1122G>A:p.Lys374=	coding	Benign
22	24525797	G	A	G24525797A	UPB1	NM_016327.3(UPB1):c.*3G>A	noncoding	Benign
22	24526484	T	G	T24526484G	UPB1	NM_016327.3(UPB1):c.*690T>G	noncoding	Benign
22	24621039	G	A	G24621039A	GGT1	NM_001288833.2(GGT1):c.702G>A:p.Thr234=	coding	Benign
22	24628109	G	A	G24628109A	GGT1	NM_001288833.2(GGT1):c.1365G>A:p.Pro455=	coding	Benign
22	24719489	G	A	G24719489A	PIWIL3	NM_001008496.3(PIWIL3):c.2632C>T:p.Arg878Cys	coding	Benign
22	24756504	G	A	G24756504A	PIWIL3	NM_001008496.3(PIWIL3):c.557C>T:p.Pro186Leu	coding	Benign
22	24756510	G	A	G24756510A	PIWIL3	NM_001008496.3(PIWIL3):c.551C>T:p.Ser184Phe	coding	Benign
22	24757996	G	A	G24757996A	PIWIL3	NM_001008496.3(PIWIL3):c.267C>T:p.Pro89=	coding	Benign
22	24868386	C	T	C24868386T	SGSM1	NM_001098497.3(SGSM1):c.1005C>T:p.Gly335=	coding	Benign
22	24893481	G	A	G24893481A	SGSM1	NM_001098497.3(SGSM1):c.1821G>A:p.Leu607=	coding	Benign
22	24912704	C	T	C24912704T	SGSM1	NM_001098497.3(SGSM1):c.2880C>T:p.His960=	coding	Benign
22	25201364	T	C	T25201364C	CRYBB3	NM_004076.5(CRYBB3):c.-20-13T>C	noncoding	Benign
22	25201402	G	A	G25201402A	CRYBB3	NM_004076.5(CRYBB3):c.6G>A:p.Ala2=	coding	Benign
22	25203882	G	A	G25203882A	CRYBB3	NM_004076.5(CRYBB3):c.314G>A:p.Arg105Gln	coding	Benign/Likely_benign
22	25205229	C	G	C25205229G	CRYBB3	NM_004076.5(CRYBB3):c.337C>G:p.His113Asp	coding	Benign
22	25207041	C	T	C25207041T	CRYBB3	NM_004076.5(CRYBB3):c.471-6C>T	noncoding	Benign/Likely_benign
22	25207051	G	A	G25207051A	CRYBB3	NM_004076.5(CRYBB3):c.475G>A:p.Val159Ile	coding	Benign
22	25207069	G	C	G25207069C	CRYBB3	NM_004076.5(CRYBB3):c.493G>C:p.Gly165Arg	coding	Pathogenic
22	25207143	G	A	G25207143A	CRYBB3	NM_004076.5(CRYBB3):c.567G>A:p.Pro189=	coding	Benign/Likely_benign
22	25207157	T	A	T25207157A	CRYBB3	NM_004076.5(CRYBB3):c.581T>A:p.Val194Glu	coding	Pathogenic
22	25221469	T	A	T25221469A	CRYBB2	NM_000496.3(CRYBB2):c.40T>A:p.Ser14Thr	coding	Benign
22	25227872	G	T	G25227872T	CRYBB2	NM_000496.3(CRYBB2):c.193G>T:p.Ala65Ser	coding	Benign
22	25229484	G	A	G25229484A	CRYBB2	NM_000496.3(CRYBB2):c.355G>A:p.Gly119Arg	coding	Pathogenic
22	25229587	G	A	G25229587A	CRYBB2	NM_000496.3(CRYBB2):c.449+9G>A	noncoding	Benign
22	25231617	C	T	C25231617T	CRYBB2	NM_000496.3(CRYBB2):c.463C>T:p.Gln155Ter	coding	Pathogenic
22	25231637	G	A	G25231637A	CRYBB2	NM_000496.3(CRYBB2):c.483G>A:p.Gly161=	coding	Benign
22	25231717	G	A	G25231717A	CRYBB2	NM_000496.3(CRYBB2):c.563G>A:p.Arg188His	coding	Pathogenic/Likely_pathogenic
22	25231717	G	T	G25231717T	CRYBB2	NM_000496.3(CRYBB2):c.563G>T:p.Arg188Leu	coding	Pathogenic
22	25687641	C	A	C25687641A	GRK3	NM_005160.4(GRK3):c.931C>A:p.Arg311=	coding	Benign
22	25768138	A	G	A25768138G	MYO18B	NM_032608.7(MYO18B):c.222A>G:p.Gln74=	coding	Benign
22	25768288	T	C	T25768288C	MYO18B	NM_032608.7(MYO18B):c.372T>C:p.Asn124=	coding	Benign
22	25768423	G	A	G25768423A	MYO18B	NM_032608.7(MYO18B):c.507G>A:p.Lys169=	coding	Benign
22	25768465	C	A	C25768465A	MYO18B	NM_032608.7(MYO18B):c.549C>A:p.Pro183=	coding	Benign
22	25768888	A	T	A25768888T	MYO18B	NM_032608.7(MYO18B):c.972A>T:p.Arg324Ser	coding	Benign
22	25769027	A	T	A25769027T	MYO18B	NM_032608.7(MYO18B):c.1111A>T:p.Met371Leu	coding	Benign
22	25770869	C	A	C25770869A	MYO18B	NM_032608.7(MYO18B):c.1580-3C>A	noncoding	Benign
22	25770880	C	G	C25770880G	MYO18B	NM_032608.7(MYO18B):c.1588C>G:p.Leu530Val	coding	Benign
22	25772366	C	T	C25772366T	MYO18B	NM_032608.7(MYO18B):c.1725C>T:p.Asp575=	coding	Benign
22	25772400	G	C	G25772400C	MYO18B	NM_032608.7(MYO18B):c.1759G>C:p.Val587Leu	coding	Benign
22	25785430	C	T	C25785430T	MYO18B	NM_032608.7(MYO18B):c.2315C>T:p.Thr772Met	coding	Benign
22	25797949	G	A	G25797949A	MYO18B	NM_032608.7(MYO18B):c.2377-4G>A	noncoding	Benign
22	25798080	C	T	C25798080T	MYO18B	NM_032608.7(MYO18B):c.2504C>T:p.Ala835Val	coding	Benign
22	25828955	A	G	A25828955G	MYO18B	NM_032608.7(MYO18B):c.2966A>G:p.Gln989Arg	coding	Benign
22	25846129	G	A	G25846129A	MYO18B	NM_032608.7(MYO18B):c.3398G>A:p.Arg1133Gln	coding	Benign
22	25868311	T	C	T25868311C	MYO18B	NM_032608.7(MYO18B):c.3886-9T>C	noncoding	Benign
22	25868322	C	T	C25868322T	MYO18B	NM_032608.7(MYO18B):c.3888C>T:p.Ala1296=	coding	Benign
22	25868323	G	A	G25868323A	MYO18B	NM_032608.7(MYO18B):c.3889G>A:p.Val1297Met	coding	Benign
22	25876224	T	C	T25876224C	MYO18B	NM_032608.7(MYO18B):c.4116T>C:p.Asn1372=	coding	Benign
22	25877981	G	A	G25877981A	MYO18B	NM_032608.7(MYO18B):c.4247G>A:p.Arg1416Gln	coding	Benign
22	25878058	T	A	T25878058A	MYO18B	NM_032608.7(MYO18B):c.4314+10T>A	noncoding	Benign
22	25895153	C	T	C25895153T	MYO18B	NM_032608.7(MYO18B):c.4544-3C>T	noncoding	Benign
22	25895244	C	G	C25895244G	MYO18B	NM_032608.7(MYO18B):c.4632C>G:p.Asp1544Glu	coding	Benign
22	25908349	G	A	G25908349A	MYO18B	NM_032608.7(MYO18B):c.5176G>A:p.Glu1726Lys	coding	Benign
22	25908353	G	A	G25908353A	MYO18B	NM_032608.7(MYO18B):c.5180G>A:p.Arg1727Gln	coding	Benign
22	25911032	C	T	C25911032T	MYO18B	NM_032608.7(MYO18B):c.5346C>T:p.Ile1782=	coding	Benign
22	25946178	G	A	G25946178A	MYO18B	NM_032608.7(MYO18B):c.5559G>A:p.Thr1853=	coding	Benign
22	25952369	C	T	C25952369T	MYO18B	NM_032608.7(MYO18B):c.5916C>T:p.Ile1972=	coding	Benign
22	25955286	G	T	G25955286T	MYO18B	NM_032608.7(MYO18B):c.6078G>T:p.Arg2026=	coding	Benign
22	25955287	C	T	C25955287T	MYO18B	NM_032608.7(MYO18B):c.6079C>T:p.Arg2027Cys	coding	Benign
22	25955348	G	A	G25955348A	MYO18B	NM_032608.7(MYO18B):c.6140G>A:p.Arg2047Gln	coding	Benign
22	26003259	T	C	T26003259C	MYO18B	NM_032608.7(MYO18B):c.6288-6T>C	noncoding	Benign
22	26003274	G	A	G26003274A	MYO18B	NM_032608.7(MYO18B):c.6297G>A:p.Thr2099=	coding	Benign
22	26004818	C	T	C26004818T	MYO18B	NM_032608.7(MYO18B):c.6433C>T:p.Arg2145Ter	coding	Pathogenic
22	26026439	G	A	G26026439A	MYO18B	NM_032608.7(MYO18B):c.6471-6G>A	noncoding	Benign
22	26026470	G	T	G26026470T	MYO18B	NM_032608.7(MYO18B):c.6496G>T:p.Glu2166Ter	coding	Pathogenic
22	26026535	A	T	A26026535T	MYO18B	NM_032608.7(MYO18B):c.6561A>T:p.Ser2187=	coding	Benign
22	26026685	G	A	G26026685A	MYO18B	NM_032608.7(MYO18B):c.6711G>A:p.Pro2237=	coding	Benign
22	26026879	C	A	C26026879A	MYO18B	NM_032608.7(MYO18B):c.6905C>A:p.Ser2302Ter	coding	Pathogenic/Likely_pathogenic
22	26027195	G	A	G26027195A	MYO18B	NM_032608.7(MYO18B):c.7221G>A:p.Gln2407=	coding	Benign
22	26027363	T	C	T26027363C	MYO18B	NM_032608.7(MYO18B):c.7389T>C:p.Gly2463=	coding	Benign
22	26027390	C	T	C26027390T	MYO18B	NM_032608.7(MYO18B):c.7416C>T:p.Ser2472=	coding	Benign
22	26027489	G	C	G26027489C	MYO18B	NM_032608.7(MYO18B):c.7515G>C:p.Leu2505=	coding	Benign
22	26027498	G	A	G26027498A	MYO18B	NM_032608.7(MYO18B):c.7524G>A:p.Ser2508=	coding	Benign
22	26027569	G	A	G26027569A	MYO18B	NM_032608.7(MYO18B):c.7595G>A:p.Arg2532Gln	coding	Benign
22	26027613	G	C	G26027613C	MYO18B	NM_032608.7(MYO18B):c.7639G>C:p.Glu2547Gln	coding	Benign
22	26296956	C	T	C26296956T	SEZ6L	NM_021115.5(SEZ6L):c.1038C>T:p.Thr346=	coding	Benign
22	26310731	G	A	G26310731A	SEZ6L	NM_021115.5(SEZ6L):c.1576G>A:p.Glu526Lys	coding	Benign
22	26310779	A	G	A26310779G	SEZ6L	NM_021115.5(SEZ6L):c.1624A>G:p.Ile542Val	coding	Benign
22	26310814	C	T	C26310814T	SEZ6L	NM_021115.5(SEZ6L):c.1659C>T:p.Ser553=	coding	Benign
22	26347723	A	G	A26347723G	SEZ6L	NM_021115.5(SEZ6L):c.2217A>G:p.Val739=	coding	Benign
22	26347900	A	T	A26347900T	SEZ6L	NM_021115.5(SEZ6L):c.2394A>T:p.Pro798=	coding	Benign
22	26380262	G	A	G26380262A	SEZ6L	NM_021115.5(SEZ6L):c.3046-4G>A	noncoding	Benign
22	26450964	T	C	T26450964C	HPS4	NM_022081.6(HPS4):c.*2269A>G	noncoding	Benign
22	26451271	G	A	G26451271A	HPS4	NM_022081.6(HPS4):c.*1962C>T	noncoding	Benign
22	26451546	T	C	T26451546C	HPS4	NM_022081.6(HPS4):c.*1687A>G	noncoding	Benign
22	26451620	G	T	G26451620T	HPS4	NM_022081.6(HPS4):c.*1613C>A	noncoding	Benign
22	26451846	A	T	A26451846T	HPS4	NM_022081.6(HPS4):c.*1387T>A	noncoding	Benign
22	26451983	G	A	G26451983A	HPS4	NM_022081.6(HPS4):c.*1250C>T	noncoding	Benign
22	26453281	G	A	G26453281A	HPS4	NM_022081.6(HPS4):c.2079C>T:p.Ser693=	coding	Benign/Likely_benign
22	26453398	G	A	G26453398A	HPS4	NM_022081.6(HPS4):c.1962C>T:p.Ala654=	coding	Benign
22	26457915	G	A	G26457915A	HPS4	NM_022081.6(HPS4):c.1899C>T:p.Val633=	coding	Benign/Likely_benign
22	26457923	G	A	G26457923A	HPS4	NM_022081.6(HPS4):c.1891C>T:p.Gln631Ter	coding	Pathogenic
22	26457931	C	T	C26457931T	HPS4	NM_022081.6(HPS4):c.1883G>A:p.Arg628His	coding	Benign/Likely_benign
22	26457939	C	A	C26457939A	HPS4	NM_022081.6(HPS4):c.1875G>T:p.Gln625His	coding	Benign
22	26458014	T	C	T26458014C	HPS4	NM_152841.2(HPS4):c.1832-47A>G	noncoding	Benign
22	26458475	G	A	G26458475A	HPS4	NM_022081.6(HPS4):c.1816C>T:p.His606Tyr	coding	Benign
22	26463976	C	T	C26463976T	HPS4	NM_022081.6(HPS4):c.1654G>A:p.Val552Met	coding	Benign
22	26464303	G	C	G26464303C	HPS4	NM_022081.6(HPS4):c.1327C>G:p.Leu443Val	coding	Benign
22	26464569	G	C	G26464569C	HPS4	NM_022081.6(HPS4):c.1061C>G:p.Ser354Cys	coding	Benign
22	26464570	A	T	A26464570T	HPS4	NM_022081.6(HPS4):c.1060T>A:p.Ser354Thr	coding	Benign
22	26465517	A	G	A26465517G	HPS4	NM_152841.2(HPS4):c.726T>C:p.Pro242=	coding	Benign
22	26465517	A	T	A26465517T	HPS4	NM_152841.2(HPS4):c.726T>A:p.Pro242=	coding	Benign
22	26465579	A	G	A26465579G	HPS4	NM_152841.2(HPS4):c.692-28T>C	noncoding	Benign
22	26466187	C	A	C26466187A	HPS4	NM_152841.2(HPS4):c.691+39G>T	noncoding	Benign
22	26466236	C	T	C26466236T	HPS4	NM_022081.6(HPS4):c.696G>A:p.Pro232=	coding	Benign/Likely_benign
22	26466246	T	C	T26466246C	HPS4	NM_022081.6(HPS4):c.686A>G:p.Glu229Gly	coding	Benign
22	26468556	C	A	C26468556A	HPS4	NM_022081.6(HPS4):c.664G>T:p.Glu222Ter	coding	Pathogenic
22	26468571	G	A	G26468571A	HPS4	NM_022081.6(HPS4):c.649C>T:p.Arg217Ter	coding	Pathogenic
22	26470757	C	T	C26470757T	HPS4	NM_022081.6(HPS4):c.558G>A:p.Ser186=	coding	Benign/Likely_benign
22	26470774	G	A	G26470774A	HPS4	NM_022081.6(HPS4):c.541C>T:p.Gln181Ter	coding	Pathogenic
22	26472342	T	C	T26472342C	HPS4	NM_022081.6(HPS4):c.461A>G:p.His154Arg	coding	Pathogenic
22	26472391	C	A	C26472391A	HPS4	NM_022081.6(HPS4):c.412G>T:p.Glu138Ter	coding	Pathogenic
22	26479404	C	T	C26479404T	HPS4	NM_152841.2(HPS4):c.-23G>A	coding	Benign
22	26482015	G	A	G26482015A	HPS4	NM_022081.6(HPS4):c.-253C>T	noncoding	Benign
22	26482058	A	G	A26482058G	HPS4	NM_022081.6(HPS4):c.-296T>C	noncoding	Benign
22	26483749	G	A	G26483749A	HPS4	NM_022081.6(HPS4):c.-554C>T	noncoding	Benign
22	26483857	C	A	C26483857A	HPS4	NM_001349896.1(HPS4):c.-571G>T	noncoding	Benign
22	26510250	C	T	C26510250T	TFIP11	NM_012143.4(TFIP11):c.23G>A:p.Arg8Gln	coding	Benign
22	26599492	A	G	A26599492G	CRYBB1	NM_001887.4(CRYBB1):c.757T>C:p.Ter253Arg	coding	Pathogenic
22	26599591	C	A	C26599591A	CRYBB1	NM_001887.4(CRYBB1):c.658G>T:p.Gly220Ter	coding	Pathogenic
22	26607934	G	T	G26607934T	CRYBB1	NM_001887.4(CRYBB1):c.387C>A:p.Ser129Arg	coding	Pathogenic
22	26607993	G	A	G26607993A	CRYBB1	NM_001887.4(CRYBB1):c.328C>T:p.Arg110Cys	coding	Benign
22	26623164	C	T	C26623164T	CRYBA4	NM_001886.3(CRYBA4):c.40-70C>T	noncoding	Benign
22	26623229	C	T	C26623229T	CRYBA4	NM_001886.3(CRYBA4):c.40-5C>T	noncoding	Benign
22	26623233	G	C	G26623233C	CRYBA4	NM_001886.3(CRYBA4):c.40-1G>C	noncoding	Benign
22	26623300	G	A	G26623300A	CRYBA4	NM_001886.3(CRYBA4):c.106G>A:p.Val36Met	coding	Benign
22	26625225	A	G	A26625225G	CRYBA4	NM_001886.3(CRYBA4):c.159-256A>G	noncoding	Benign
22	26625437	G	A	G26625437A	CRYBA4	NM_001886.3(CRYBA4):c.159-44G>A	noncoding	Benign
22	26625461	A	G	A26625461G	CRYBA4	NM_001886.3(CRYBA4):c.159-20A>G	noncoding	Benign
22	26625493	T	C	T26625493C	CRYBA4	NM_001886.3(CRYBA4):c.171T>C:p.Phe57=	coding	Benign
22	26625512	G	T	G26625512T	CRYBA4	NM_001886.3(CRYBA4):c.190G>T:p.Gly64Trp	coding	Pathogenic
22	26625528	T	C	T26625528C	CRYBA4	NM_001886.3(CRYBA4):c.206T>C:p.Leu69Pro	coding	Pathogenic
22	26625538	C	T	C26625538T	CRYBA4	NM_001886.3(CRYBA4):c.216C>T:p.Gly72=	coding	Benign
22	26625603	T	C	T26625603C	CRYBA4	NM_001886.3(CRYBA4):c.281T>C:p.Phe94Ser	coding	Pathogenic
22	26625625	A	G	A26625625G	CRYBA4	NM_001886.3(CRYBA4):c.300+3A>G	noncoding	Benign
22	26628294	C	T	C26628294T	CRYBA4	NM_001886.3(CRYBA4):c.307C>T:p.Arg103Cys	coding	Benign
22	26628311	A	T	A26628311T	CRYBA4	NM_001886.3(CRYBA4):c.324A>T:p.Thr108=	coding	Benign
22	26628540	C	T	C26628540T	CRYBA4	NM_001886.3(CRYBA4):c.443+110C>T	noncoding	Benign
22	26630322	G	A	G26630322A	CRYBA4	NM_001886.3(CRYBA4):c.444-18G>A	noncoding	Benign
22	26630361	G	A	G26630361A	CRYBA4	NM_001886.3(CRYBA4):c.465G>A:p.Pro155=	coding	Benign
22	27750975	C	T	C27750975T	MN1	NM_002430.3(MN1):c.3903G>A:p.Trp1301Ter	coding	Pathogenic
22	27751043	G	A	G27751043A	MN1	NM_002430.3(MN1):c.3835C>T:p.Gln1279Ter	coding	Pathogenic
22	27751061	G	A	G27751061A	MN1	NM_002430.3(MN1):c.3817C>T:p.Gln1273Ter	coding	Pathogenic
22	27796766	C	A	C27796766A	MN1	NM_002430.3(MN1):c.3778G>T:p.Glu1260Ter	coding	Pathogenic
22	27798759	C	T	C27798759T	MN1	NM_002430.3(MN1):c.1785G>A:p.Val595=	coding	Benign
22	27799129	G	T	G27799129T	MN1	NM_002430.3(MN1):c.1415C>A:p.Ser472Ter	coding	Pathogenic
22	27799344	C	T	C27799344T	MN1	NM_002430.3(MN1):c.1200G>A:p.Leu400=	coding	Benign
22	27800238	C	G	C27800238G	MN1	NM_002430.3(MN1):c.306G>C:p.Pro102=	coding	Benign
22	27983070	C	T	C27983070T	TTC28	NM_001145418.1(TTC28):c.6597G>A:p.Ala2199=	coding	Benign
22	27983727	G	A	G27983727A	TTC28	NM_001145418.1(TTC28):c.5940C>T:p.Thr1980=	coding	Benign
22	27998697	G	A	G27998697A	TTC28	NM_001145418.1(TTC28):c.4962C>T:p.Leu1654=	coding	Benign
22	28001517	G	A	G28001517A	TTC28	NM_001145418.1(TTC28):c.4255C>T:p.Arg1419Trp	coding	Benign
22	28014325	G	C	G28014325C	TTC28	NM_001145418.1(TTC28):c.4141C>G:p.Leu1381Val	coding	Benign
22	28107127	G	A	G28107127A	TTC28	NM_001145418.1(TTC28):c.2718C>T:p.Val906=	coding	Benign
22	28107463	G	A	G28107463A	TTC28	NM_001145418.1(TTC28):c.2382C>T:p.Cys794=	coding	Benign
22	28107592	T	C	T28107592C	TTC28	NM_001145418.1(TTC28):c.2253A>G:p.Arg751=	coding	Benign
22	28163533	G	A	G28163533A	TTC28	NM_001145418.1(TTC28):c.1000C>T:p.Leu334=	coding	Benign
22	28687974	G	A	G28687974A	CHEK2	NM_007194.4(CHEK2):c.1555C>T:p.Arg519Ter	coding	Pathogenic/Likely_pathogenic
22	28689124	A	T	A28689124T	CHEK2	NM_007194.4(CHEK2):c.1542+11T>A	noncoding	Benign/Likely_benign
22	28689149	G	A	G28689149A	CHEK2	NM_007194.4(CHEK2):c.1528C>T:p.Gln510Ter	coding	Pathogenic/Likely_pathogenic
22	28689180	C	G	C28689180G	CHEK2	NM_007194.4(CHEK2):c.1497G>C:p.Leu499=	coding	Benign/Likely_benign
22	28689191	G	A	G28689191A	CHEK2	NM_007194.4(CHEK2):c.1486C>T:p.Gln496Ter	coding	Pathogenic
22	28689212	C	A	C28689212A	CHEK2	NM_007194.4(CHEK2):c.1465G>T:p.Glu489Ter	coding	Pathogenic
22	28694031	C	T	C28694031T	CHEK2	NM_007194.4(CHEK2):c.1461+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	28694034	G	A	G28694034A	CHEK2	NM_007194.4(CHEK2):c.1459C>T:p.Gln487Ter	coding	Pathogenic
22	28694039	C	T	C28694039T	CHEK2	NM_007194.4(CHEK2):c.1454G>A:p.Trp485Ter	coding	Pathogenic
22	28694058	C	A	C28694058A	CHEK2	NM_007194.4(CHEK2):c.1435G>T:p.Glu479Ter	coding	Pathogenic
22	28694086	C	T	C28694086T	CHEK2	NM_007194.4(CHEK2):c.1407G>A:p.Val469=	coding	Benign/Likely_benign
22	28694096	A	T	A28694096T	CHEK2	NM_007194.4(CHEK2):c.1397T>A:p.Leu466Ter	coding	Pathogenic
22	28695146	C	T	C28695146T	CHEK2	NM_007194.4(CHEK2):c.1356G>A:p.Trp452Ter	coding	Pathogenic
22	28695147	C	T	C28695147T	CHEK2	NM_007194.4(CHEK2):c.1355G>A:p.Trp452Ter	coding	Pathogenic
22	28695154	C	A	C28695154A	CHEK2	NM_007194.4(CHEK2):c.1348G>T:p.Glu450Ter	coding	Pathogenic
22	28695159	A	C	A28695159C	CHEK2	NM_007194.4(CHEK2):c.1343T>G:p.Ile448Ser	coding	Benign/Likely_benign
22	28695187	G	A	G28695187A	CHEK2	NM_007194.4(CHEK2):c.1315C>T:p.Gln439Ter	coding	Pathogenic/Likely_pathogenic
22	28695205	G	A	G28695205A	CHEK2	NM_007194.4(CHEK2):c.1297C>T:p.Gln433Ter	coding	Pathogenic
22	28695252	G	C	G28695252C	CHEK2	NM_007194.4(CHEK2):c.1260-10C>G	noncoding	Benign/Likely_benign
22	28695709	C	G	C28695709G	CHEK2	NM_007194.4(CHEK2):c.1259+1G>C	noncoding	Pathogenic/Likely_pathogenic
22	28695729	C	A	C28695729A	CHEK2	NM_007194.4(CHEK2):c.1240G>T:p.Gly414Ter	coding	Pathogenic
22	28695731	A	C	A28695731C	CHEK2	NM_007194.4(CHEK2):c.1238T>G:p.Leu413Ter	coding	Pathogenic
22	28695736	C	T	C28695736T	CHEK2	NM_007194.4(CHEK2):c.1233G>A:p.Trp411Ter	coding	Pathogenic
22	28695737	C	T	C28695737T	CHEK2	NM_007194.4(CHEK2):c.1232G>A:p.Trp411Ter	coding	Pathogenic/Likely_pathogenic
22	28695739	G	T	G28695739T	CHEK2	NM_007194.4(CHEK2):c.1230C>A:p.Cys410Ter	coding	Pathogenic
22	28695757	A	T	A28695757T	CHEK2	NM_007194.4(CHEK2):c.1212T>A:p.Tyr404Ter	coding	Pathogenic
22	28695789	C	A	C28695789A	CHEK2	NM_007194.4(CHEK2):c.1180G>T:p.Glu394Ter	coding	Pathogenic
22	28695793	C	T	C28695793T	CHEK2	NM_007194.4(CHEK2):c.1176G>A:p.Ala392=	coding	Benign/Likely_benign
22	28696924	G	A	G28696924A	CHEK2	NM_007194.4(CHEK2):c.1072C>T:p.Gln358Ter	coding	Pathogenic
22	28696929	G	C	G28696929C	CHEK2	NM_007194.4(CHEK2):c.1067C>G:p.Ser356Ter	coding	Pathogenic
22	28696953	A	C	A28696953C	CHEK2	NM_007194.4(CHEK2):c.1043T>G:p.Leu348Ter	coding	Pathogenic
22	28696973	G	A	G28696973A	CHEK2	NM_007194.4(CHEK2):c.1023C>T:p.Asn341=	coding	Benign/Likely_benign
22	28696985	G	T	G28696985T	CHEK2	NM_007194.4(CHEK2):c.1011C>A:p.Tyr337Ter	coding	Pathogenic
22	28699825	G	A	G28699825A	CHEK2	NM_007194.4(CHEK2):c.1008+13C>T	noncoding	Benign/Likely_benign
22	28699830	T	C	T28699830C	CHEK2	NM_007194.4(CHEK2):c.1008+8A>G	noncoding	Benign/Likely_benign
22	28699858	G	A	G28699858A	CHEK2	NM_007194.4(CHEK2):c.988C>T:p.Gln330Ter	coding	Pathogenic
22	28699885	C	A	C28699885A	CHEK2	NM_007194.4(CHEK2):c.961G>T:p.Glu321Ter	coding	Pathogenic
22	28703505	A	T	A28703505T	CHEK2	NM_007194.4(CHEK2):c.908T>A:p.Leu303Ter	coding	Pathogenic
22	28703506	A	G	A28703506G	CHEK2	NM_007194.4(CHEK2):c.907T>C:p.Leu303=	coding	Benign/Likely_benign
22	28703511	A	T	A28703511T	CHEK2	NM_007194.4(CHEK2):c.902T>A:p.Leu301Ter	coding	Pathogenic/Likely_pathogenic
22	28703519	A	C	A28703519C	CHEK2	NM_007194.4(CHEK2):c.894T>G:p.Tyr298Ter	coding	Pathogenic/Likely_pathogenic
22	28703561	G	T	G28703561T	CHEK2	NM_007194.4(CHEK2):c.852C>A:p.Cys284Ter	coding	Pathogenic/Likely_pathogenic
22	28703576	G	C	G28703576C	CHEK2	NM_007194.4(CHEK2):c.847-10C>G	noncoding	Benign/Likely_benign
22	28703583	A	G	A28703583G	CHEK2	NM_007194.4(CHEK2):c.847-17T>C	noncoding	Benign/Likely_benign
22	28710005	C	A	C28710005A	CHEK2	NM_007194.4(CHEK2):c.846+1G>T	noncoding	Pathogenic
22	28710029	C	A	C28710029A	CHEK2	NM_007194.4(CHEK2):c.823G>T:p.Glu275Ter	coding	Pathogenic
22	28710060	C	T	C28710060T	CHEK2	NM_007194.4(CHEK2):c.793-1G>A	coding	Pathogenic/Likely_pathogenic
22	28711922	G	T	G28711922T	CHEK2	NM_007194.4(CHEK2):c.779C>A:p.Ser260Ter	coding	Pathogenic
22	28711938	T	A	T28711938A	CHEK2	NM_007194.4(CHEK2):c.763A>T:p.Lys255Ter	coding	Pathogenic
22	28711944	T	A	T28711944A	CHEK2	NM_007194.4(CHEK2):c.757A>T:p.Lys253Ter	coding	Pathogenic
22	28711968	T	A	T28711968A	CHEK2	NM_007194.4(CHEK2):c.733A>T:p.Lys245Ter	coding	Pathogenic
22	28711986	C	A	C28711986A	CHEK2	NM_007194.4(CHEK2):c.715G>T:p.Glu239Ter	coding	Pathogenic
22	28712004	C	A	C28712004A	CHEK2	NM_007194.4(CHEK2):c.697G>T:p.Glu233Ter	coding	Pathogenic
22	28719394	C	A	C28719394A	CHEK2	NM_007194.4(CHEK2):c.683+1G>T	noncoding	Pathogenic/Likely_pathogenic
22	28719423	C	A	C28719423A	CHEK2	NM_007194.4(CHEK2):c.655G>T:p.Glu219Ter	coding	Pathogenic
22	28719442	A	C	A28719442C	CHEK2	NM_007194.4(CHEK2):c.636T>G:p.Tyr212Ter	coding	Pathogenic
22	28719449	G	C	G28719449C	CHEK2	NM_007194.4(CHEK2):c.629C>G:p.Ser210Ter	coding	Pathogenic
22	28719479	A	G	A28719479G	CHEK2	NM_007194.4(CHEK2):c.599T>C:p.Val200Ala	coding	Pathogenic
22	28719499	G	A	G28719499A	CHEK2	NM_007194.4(CHEK2):c.593-14C>T	noncoding	Benign
22	28724994	G	T	G28724994T	CHEK2	NM_007194.4(CHEK2):c.575C>A:p.Ser192Ter	coding	Pathogenic
22	28725040	T	A	T28725040A	CHEK2	NM_007194.4(CHEK2):c.529A>T:p.Lys177Ter	coding	Pathogenic
22	28725041	C	G	C28725041G	CHEK2	NM_007194.4(CHEK2):c.528G>C:p.Gly176=	coding	Benign/Likely_benign
22	28725101	G	C	G28725101C	CHEK2	NM_007194.4(CHEK2):c.468C>G:p.Tyr156Ter	coding	Pathogenic/Likely_pathogenic
22	28725101	G	T	G28725101T	CHEK2	NM_007194.4(CHEK2):c.468C>A:p.Tyr156Ter	coding	Pathogenic
22	28725224	A	G	A28725224G	CHEK2	NM_007194.4(CHEK2):c.444+19T>C	noncoding	Benign/Likely_benign
22	28725241	A	G	A28725241G	CHEK2	NM_007194.4(CHEK2):c.444+2T>C	noncoding	Pathogenic/Likely_pathogenic
22	28725242	C	A	C28725242A	CHEK2	NM_007194.4(CHEK2):c.444+1G>T	noncoding	Pathogenic/Likely_pathogenic
22	28725242	C	T	C28725242T	CHEK2	NM_007194.4(CHEK2):c.444+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	28725270	G	T	G28725270T	CHEK2	NM_007194.4(CHEK2):c.417C>A:p.Tyr139Ter	coding	Pathogenic
22	28725278	G	A	G28725278A	CHEK2	NM_007194.4(CHEK2):c.409C>T:p.Arg137Ter	coding	Pathogenic
22	28725279	G	T	G28725279T	CHEK2	NM_007194.4(CHEK2):c.408C>A:p.Tyr136Ter	coding	Pathogenic
22	28725296	T	A	T28725296A	CHEK2	NM_007194.4(CHEK2):c.391A>T:p.Lys131Ter	coding	Pathogenic
22	28725315	G	T	G28725315T	CHEK2	NM_007194.4(CHEK2):c.372C>A:p.Cys124Ter	coding	Pathogenic
22	28725338	T	C	T28725338C	CHEK2	NM_007194.4(CHEK2):c.349A>G:p.Arg117Gly	coding	Pathogenic/Likely_pathogenic
22	28725346	C	T	C28725346T	CHEK2	NM_007194.4(CHEK2):c.341G>A:p.Trp114Ter	coding	Pathogenic
22	28725348	G	C	G28725348C	CHEK2	NM_007194.4(CHEK2):c.339C>G:p.Tyr113Ter	coding	Pathogenic
22	28734401	A	T	A28734401T	CHEK2	NM_007194.4(CHEK2):c.319+2T>A	noncoding	Pathogenic/Likely_pathogenic
22	28734418	C	A	C28734418A	CHEK2	NM_007194.4(CHEK2):c.304G>T:p.Gly102Ter	coding	Pathogenic
22	28734424	G	A	G28734424A	CHEK2	NM_007194.4(CHEK2):c.298C>T:p.Gln100Ter	coding	Pathogenic
22	28734431	C	T	C28734431T	CHEK2	NM_007194.4(CHEK2):c.291G>A:p.Trp97Ter	coding	Pathogenic
22	28734439	G	A	G28734439A	CHEK2	NM_007194.4(CHEK2):c.283C>T:p.Arg95Ter	coding	Pathogenic
22	28734443	C	T	C28734443T	CHEK2	NM_007194.4(CHEK2):c.279G>A:p.Trp93Ter	coding	Pathogenic
22	28734444	C	T	C28734444T	CHEK2	NM_007194.4(CHEK2):c.278G>A:p.Trp93Ter	coding	Pathogenic
22	28734468	G	A	G28734468A	CHEK2	NM_007194.4(CHEK2):c.254C>T:p.Pro85Leu	coding	Benign/Likely_benign
22	28734470	T	C	T28734470C	CHEK2	NM_007194.4(CHEK2):c.252A>G:p.Glu84=	coding	Benign
22	28734475	G	A	G28734475A	CHEK2	NM_007194.4(CHEK2):c.247C>T:p.Gln83Ter	coding	Pathogenic
22	28734490	G	A	G28734490A	CHEK2	NM_007194.4(CHEK2):c.232C>T:p.Gln78Ter	coding	Pathogenic/Likely_pathogenic
22	28734506	A	C	A28734506C	CHEK2	NM_007194.4(CHEK2):c.216T>G:p.Tyr72Ter	coding	Pathogenic
22	28734514	C	A	C28734514A	CHEK2	NM_007194.4(CHEK2):c.208G>T:p.Glu70Ter	coding	Pathogenic
22	28734517	G	A	G28734517A	CHEK2	NM_007194.4(CHEK2):c.205C>T:p.Gln69Ter	coding	Pathogenic/Likely_pathogenic
22	28734571	G	A	G28734571A	CHEK2	NM_007194.4(CHEK2):c.151C>T:p.Gln51Ter	coding	Pathogenic
22	28734622	G	A	G28734622A	CHEK2	NM_007194.4(CHEK2):c.100C>T:p.Gln34Ter	coding	Pathogenic
22	28734624	G	T	G28734624T	CHEK2	NM_007194.4(CHEK2):c.98C>A:p.Ser33Ter	coding	Pathogenic
22	28734691	G	A	G28734691A	CHEK2	NM_007194.4(CHEK2):c.31C>T:p.Gln11Ter	coding	Pathogenic
22	28734694	G	A	G28734694A	CHEK2	NM_007194.4(CHEK2):c.28C>T:p.Gln10Ter	coding	Pathogenic
22	28741483	T	A	T28741483A	CHEK2	NM_007194.4(CHEK2):c.-7+286A>T	noncoding	Benign
22	28741802	C	A	C28741802A	CHEK2	NM_007194.4(CHEK2):c.-40G>T	noncoding	Benign
22	29050413	C	T	C29050413T	ZNRF3	NM_001206998.2(ZNRF3):c.2232C>T:p.Gly744=	coding	Benign
22	29125304	C	T	C29125304T	KREMEN1	NM_001039570.3(KREMEN1):c.519C>T:p.Asn173=	coding	Benign
22	29125411	T	C	T29125411C	KREMEN1	NM_032045.5(KREMEN1):c.626T>C:p.Phe209Ser	coding	Pathogenic
22	29137449	C	T	C29137449T	KREMEN1	NM_001039570.3(KREMEN1):c.739C>T:p.Arg247Trp	coding	Benign
22	29137565	C	T	C29137565T	KREMEN1	NM_001039570.3(KREMEN1):c.855C>T:p.His285=	coding	Benign
22	29138633	A	G	A29138633G	KREMEN1	NM_001039570.3(KREMEN1):c.974A>G:p.Glu325Gly	coding	Benign
22	29138676	C	T	C29138676T	KREMEN1	NM_001039570.3(KREMEN1):c.1017C>T:p.Ala339=	coding	Benign
22	29140355	C	T	C29140355T	KREMEN1	NM_001039570.3(KREMEN1):c.1197C>T:p.His399=	coding	Benign
22	29141977	G	A	G29141977A	KREMEN1	NM_001039570.3(KREMEN1):c.1242G>A:p.Arg414=	coding	Benign
22	29142001	G	A	G29142001A	KREMEN1	NM_001039570.3(KREMEN1):c.1266G>A:p.Ser422=	coding	Benign
22	29231588	C	G	C29231588G	EMID1	NM_133455.4(EMID1):c.587-5C>G	noncoding	Benign
22	29286914	C	G	C29286914G	EWSR1	NM_005243.4(EWSR1):c.582-9C>G	noncoding	Benign
22	29286941	G	A	G29286941A	EWSR1	NM_005243.4(EWSR1):c.600G>A:p.Pro200=	coding	Benign
22	29299771	C	T	C29299771T	EWSR1	NM_005243.4(EWSR1):c.1851C>T:p.Gly617=	coding	Benign
22	29331852	C	A	C29331852A	AP1B1	NM_001127.3(AP1B1):c.2374G>T:p.Glu792Ter	coding	Pathogenic
22	29358821	A	G	A29358821G	AP1B1	NM_001127.3(AP1B1):c.430T>C:p.Cys144Arg	coding	Pathogenic
22	29363107	C	T	C29363107T	AP1B1	NM_001127.3(AP1B1):c.38-1G>A	coding	Pathogenic
22	29480283	G	A	G29480283A	NEFH	NM_021076.4(NEFH):c.21G>A:p.Ala7=	coding	Benign
22	29480574	G	A	G29480574A	NEFH	NM_021076.4(NEFH):c.312G>A:p.Leu104=	coding	Benign
22	29480695	C	T	C29480695T	NEFH	NM_021076.4(NEFH):c.433C>T:p.Leu145=	coding	Benign
22	29480817	A	C	A29480817C	NEFH	NM_021076.4(NEFH):c.555A>C:p.Leu185=	coding	Benign
22	29480889	C	G	C29480889G	NEFH	NM_021076.4(NEFH):c.627C>G:p.Ala209=	coding	Benign
22	29481021	G	T	G29481021T	NEFH	NM_021076.4(NEFH):c.759G>T:p.Ala253=	coding	Benign
22	29485777	G	A	G29485777A	NEFH	NM_021076.4(NEFH):c.1138G>A:p.Ala380Thr	coding	Benign
22	29485839	C	T	C29485839T	NEFH	NM_021076.4(NEFH):c.1200C>T:p.Ala400=	coding	Benign
22	29489027	G	A	G29489027A	NEFH	NM_021076.4(NEFH):c.1387G>A:p.Glu463Lys	coding	Benign
22	29489086	G	A	G29489086A	NEFH	NM_021076.4(NEFH):c.1446G>A:p.Glu482=	coding	Benign
22	29489363	C	T	C29489363T	NEFH	NM_021076.4(NEFH):c.1723C>T:p.Pro575Ser	coding	Benign
22	29489380	C	T	C29489380T	NEFH	NM_021076.4(NEFH):c.1740C>T:p.Ser580=	coding	Benign/Likely_benign
22	29489423	C	T	C29489423T	NEFH	NM_021076.4(NEFH):c.1783C>T:p.Pro595Ser	coding	Benign
22	29489484	C	T	C29489484T	NEFH	NM_021076.4(NEFH):c.1844C>T:p.Pro615Leu	coding	Benign
22	29489581	G	C	G29489581C	NEFH	NM_021076.4(NEFH):c.1941G>C:p.Lys647Asn	coding	Benign
22	29489872	T	C	T29489872C	NEFH	NM_021076.4(NEFH):c.2232T>C:p.Ala744=	coding	Benign
22	29490054	A	C	A29490054C	NEFH	NM_021076.4(NEFH):c.2414A>C:p.Glu805Ala	coding	Benign
22	29490241	G	T	G29490241T	NEFH	NM_021076.4(NEFH):c.2601G>T:p.Lys867Asn	coding	Benign
22	29490352	C	T	C29490352T	NEFH	NM_021076.4(NEFH):c.2712C>T:p.Pro904=	coding	Benign
22	29490397	C	T	C29490397T	NEFH	NM_021076.4(NEFH):c.2757C>T:p.Asp919=	coding	Benign
22	29490424	A	G	A29490424G	NEFH	NM_021076.4(NEFH):c.2784A>G:p.Val928=	coding	Benign
22	29490520	G	T	G29490520T	NEFH	NM_021076.4(NEFH):c.2880G>T:p.Glu960Asp	coding	Benign
22	29512036	G	A	G29512036A	THOC5	NM_001002877.2(THOC5):c.1782C>T:p.Asn594=	coding	Benign
22	29517289	C	T	C29517289T	THOC5	NM_003678.5(THOC5):c.1567G>A:p.Val523Met	coding	Benign
22	29603247	G	C	G29603247C	NF2	NM_000268.3(NF2):c.-752G>C	noncoding	Benign
22	29603753	C	G	C29603753G	NF2	NM_000268.4(NF2):c.-246C>G	noncoding	Benign
22	29603754	C	G	C29603754G	NF2	NM_000268.4(NF2):c.-245C>G	noncoding	Benign
22	29603795	C	A	C29603795A	NF2	NM_000268.4(NF2):c.-204C>A	noncoding	Benign
22	29603889	G	C	G29603889C	NF2	NM_000268.4(NF2):c.-110G>C	noncoding	Benign
22	29603981	G	A	G29603981A	NF2	NM_000268.4(NF2):c.-18G>A	noncoding	Benign/Likely_benign
22	29604010	C	T	C29604010T	NF2	NM_000268.4(NF2):c.12C>T:p.Ala4=	coding	Benign/Likely_benign
22	29604041	A	T	A29604041T	NF2	NM_000268.4(NF2):c.43A>T:p.Lys15Ter	coding	Pathogenic
22	29604056	A	T	A29604056T	NF2	NM_000268.4(NF2):c.58A>T:p.Lys20Ter	coding	Pathogenic
22	29636495	A	C	A29636495C	NF2	NM_016418.5(NF2):c.115-256A>C	noncoding	Benign
22	29636758	G	A	G29636758A	NF2	NM_000268.4(NF2):c.122G>A:p.Trp41Ter	coding	Pathogenic
22	29636805	C	T	C29636805T	NF2	NM_000268.4(NF2):c.169C>T:p.Arg57Ter	coding	Pathogenic
22	29636816	G	A	G29636816A	NF2	NM_000268.4(NF2):c.180G>A:p.Trp60Ter	coding	Pathogenic
22	29636821	T	C	T29636821C	NF2	NM_000268.4(NF2):c.185T>C:p.Phe62Ser	coding	Pathogenic
22	29636829	C	T	C29636829T	NF2	NM_000268.4(NF2):c.193C>T:p.Gln65Ter	coding	Pathogenic
22	29636877	G	A	G29636877A	NF2	NM_000268.4(NF2):c.240+1G>A	coding	Pathogenic
22	29636877	G	C	G29636877C	NF2	NM_000268.4(NF2):c.240+1G>C	coding	Pathogenic
22	29636877	G	T	G29636877T	NF2	NM_016418.5(NF2):c.240+1G>T	coding	Pathogenic
22	29639005	G	T	G29639005T	NF2	NM_016418.5(NF2):c.241-85G>T	noncoding	Benign
22	29639095	G	A	G29639095A	NF2	NM_000268.4(NF2):c.246G>A:p.Leu82=	coding	Benign/Likely_benign
22	29641911	C	G	C29641911G	NF2	NM_016418.5(NF2):c.364-291C>G	noncoding	Benign
22	29642163	A	C	A29642163C	NF2	NM_016418.5(NF2):c.364-39A>C	noncoding	Benign
22	29642270	C	G	C29642270G	NF2	NM_000268.4(NF2):c.432C>G:p.Tyr144Ter	coding	Pathogenic
22	29654674	C	T	C29654674T	NF2	NM_000268.4(NF2):c.465C>T:p.Pro155=	coding	Benign/Likely_benign
22	29654702	C	T	C29654702T	NF2	NM_000268.4(NF2):c.493C>T:p.Gln165Ter	coding	Pathogenic
22	29654726	G	A	G29654726A	NF2	NM_016418.5(NF2):c.516+1G>A	coding	Pathogenic
22	29655592	A	G	A29655592G	NF2	NM_016418.5(NF2):c.517-2A>G	noncoding	Pathogenic
22	29655593	G	A	G29655593A	NF2	NM_016418.5(NF2):c.517-1G>A	noncoding	Pathogenic
22	29655608	T	A	T29655608A	NF2	NM_000268.4(NF2):c.531T>A:p.Tyr177Ter	coding	Pathogenic
22	29655621	G	T	G29655621T	NF2	NM_000268.4(NF2):c.544G>T:p.Glu182Ter	coding	Pathogenic
22	29655663	C	T	C29655663T	NF2	NM_000268.4(NF2):c.586C>T:p.Arg196Ter	coding	Pathogenic
22	29655669	C	T	C29655669T	NF2	NM_000268.4(NF2):c.592C>T:p.Arg198Ter	coding	Pathogenic
22	29655716	C	T	C29655716T	NF2	NM_000268.4(NF2):c.599+40C>T	noncoding	Benign
22	29658035	G	A	G29658035A	NF2	NM_016418.5(NF2):c.600-154G>A	noncoding	Benign
22	29658187	A	G	A29658187G	NF2	NM_000268.4(NF2):c.600-2A>G	noncoding	Pathogenic
22	29658247	A	T	A29658247T	NF2	NM_000268.4(NF2):c.658A>T:p.Asn220Tyr	coding	Pathogenic
22	29658265	G	C	G29658265C	NF2	NM_000268.3(NF2):c.675+1G>C	coding	Pathogenic
22	29660956	G	A	G29660956A	NF2	NM_016418.5(NF2):c.676-249G>A	noncoding	Benign
22	29661203	A	G	A29661203G	NF2	NM_016418.5(NF2):c.676-2A>G	noncoding	Pathogenic
22	29661208	A	T	A29661208T	NF2	NM_000268.4(NF2):c.679A>T:p.Lys227Ter	coding	Pathogenic
22	29661313	C	T	C29661313T	NF2	NM_000268.4(NF2):c.784C>T:p.Arg262Ter	coding	Pathogenic
22	29661327	C	G	C29661327G	NF2	NM_000268.4(NF2):c.798C>G:p.Tyr266Ter	coding	Pathogenic
22	29661340	G	A	G29661340A	NF2	NM_000268.3(NF2):c.810+1G>A	coding	Pathogenic
22	29661341	T	C	T29661341C	NF2	NM_000268.4(NF2):c.810+2T>C	noncoding	Pathogenic
22	29661585	A	G	A29661585G	NF2	NM_016418.5(NF2):c.810+246A>G	noncoding	Benign
22	29665042	C	G	C29665042G	NF2	NM_000268.4(NF2):c.863C>G:p.Ser288Ter	coding	Pathogenic
22	29665065	G	A	G29665065A	NF2	NM_000268.4(NF2):c.885+1G>A	coding	Pathogenic
22	29668128	C	T	C29668128T	NF2	NM_016418.5(NF2):c.886-205C>T	noncoding	Benign
22	29668318	C	T	C29668318T	NF2	NM_016418.5(NF2):c.886-15C>T	noncoding	Benign/Likely_benign
22	29668405	C	T	C29668405T	NF2	NM_000268.4(NF2):c.958C>T:p.Gln320Ter	coding	Pathogenic
22	29668447	G	A	G29668447A	NF2	NM_016418.5(NF2):c.999+1G>A	coding	Pathogenic
22	29668742	A	G	A29668742G	NF2	NM_016418.5(NF2):c.999+296A>G	noncoding	Benign
22	29671829	G	T	G29671829T	NF2	NM_000268.4(NF2):c.1003G>T:p.Glu335Ter	coding	Pathogenic
22	29671847	C	T	C29671847T	NF2	NM_000268.4(NF2):c.1021C>T:p.Arg341Ter	coding	Pathogenic
22	29671905	T	C	T29671905C	NF2	NM_000268.4(NF2):c.1079T>C:p.Leu360Pro	coding	Pathogenic
22	29671939	C	T	C29671939T	NF2	NM_000268.4(NF2):c.1113C>T:p.Asn371=	coding	Benign/Likely_benign
22	29673218	C	T	C29673218T	NF2	NM_016418.5(NF2):c.1123-51C>T	noncoding	Benign
22	29673356	G	T	G29673356T	NF2	NM_000268.4(NF2):c.1210G>T:p.Glu404Ter	coding	Pathogenic
22	29673365	C	T	C29673365T	NF2	NM_000268.4(NF2):c.1219C>T:p.Gln407Ter	coding	Pathogenic
22	29673374	C	T	C29673374T	NF2	NM_000268.4(NF2):c.1228C>T:p.Gln410Ter	coding	Pathogenic
22	29673488	T	G	T29673488G	NF2	NM_000268.4(NF2):c.1340+2T>G	noncoding	Pathogenic
22	29673494	G	T	G29673494T	NF2	NM_000268.4(NF2):c.1340+8G>T	noncoding	Benign/Likely_benign
22	29674829	C	T	C29674829T	NF2	NM_000268.4(NF2):c.1341-7C>T	noncoding	Benign
22	29674882	G	T	G29674882T	NF2	NM_000268.4(NF2):c.1387G>T:p.Glu463Ter	coding	Pathogenic
22	29674891	C	T	C29674891T	NF2	NM_000268.4(NF2):c.1396C>T:p.Arg466Ter	coding	Pathogenic
22	29674911	C	T	C29674911T	NF2	NM_000268.4(NF2):c.1416C>T:p.Leu472=	coding	Benign/Likely_benign
22	29678299	T	C	T29678299C	NF2	NM_000268.4(NF2):c.1550T>C:p.Leu517Pro	coding	Pathogenic
22	29681372	G	A	G29681372A	NF2	NM_000268.4(NF2):c.1575-67G>A	noncoding	Benign
22	29681437	A	G	A29681437G	NF2	NM_000268.4(NF2):c.1575-2A>G	noncoding	Pathogenic
22	29681443	G	T	G29681443T	NF2	NM_000268.4(NF2):c.1579G>T:p.Glu527Ter	coding	Pathogenic
22	29681468	T	C	T29681468C	NF2	NM_000268.4(NF2):c.1604T>C:p.Leu535Pro	coding	Pathogenic
22	29681477	A	C	A29681477C	NF2	NM_000268.4(NF2):c.1613A>C:p.Gln538Pro	coding	Pathogenic
22	29681491	A	T	A29681491T	NF2	NM_000268.4(NF2):c.1627A>T:p.Lys543Ter	coding	Pathogenic
22	29681510	T	A	T29681510A	NF2	NM_000268.4(NF2):c.1646T>A:p.Leu549Ter	coding	Pathogenic
22	29681602	G	T	G29681602T	NF2	NM_016418.5(NF2):c.1737+1G>T	coding	Pathogenic
22	29681603	T	C	T29681603C	NF2	NM_000268.4(NF2):c.1737+2T>C	noncoding	Pathogenic
22	29683224	T	C	T29683224C	NF2	NM_016418.5(NF2):c.9+160T>C	coding	Benign
22	29694766	C	T	C29694766T	NF2	NM_000268.4(NF2):c.1752C>T:p.Ser584=	coding	Benign/Likely_benign
22	29694806	G	A	G29694806A	NF2	NM_000268.4(NF2):c.*4G>A	noncoding	Benign
22	29695156	T	C	T29695156C	NF2	NM_000268.4(NF2):c.*354T>C	noncoding	Benign
22	29695305	C	T	C29695305T	NF2	NM_000268.4(NF2):c.*503C>T	noncoding	Benign
22	29695522	G	A	G29695522A	NF2	NM_000268.4(NF2):c.*720G>A	noncoding	Benign
22	29695776	C	T	C29695776T	NF2	NM_000268.4(NF2):c.*974C>T	noncoding	Benign
22	29695889	C	T	C29695889T	NF2	NM_000268.4(NF2):c.*1087C>T	noncoding	Benign
22	29696010	C	T	C29696010T	NF2	NM_000268.4(NF2):c.*1208C>T	noncoding	Benign
22	29696072	T	C	T29696072C	NF2	NM_000268.4(NF2):c.*1270T>C	noncoding	Benign
22	29696442	A	C	A29696442C	NF2	NM_000268.4(NF2):c.*1640A>C	noncoding	Benign
22	29696594	G	A	G29696594A	NF2	NM_000268.4(NF2):c.*1792G>A	noncoding	Benign
22	29696706	A	G	A29696706G	NF2	NM_000268.4(NF2):c.*1904A>G	noncoding	Benign
22	29696879	C	T	C29696879T	NF2	NM_000268.4(NF2):c.*2077C>T	noncoding	Benign
22	29697210	G	A	G29697210A	NF2	NM_000268.4(NF2):c.*2408G>A	noncoding	Benign
22	29697257	T	C	T29697257C	NF2	NM_000268.4(NF2):c.*2455T>C	noncoding	Benign
22	29697270	C	G	C29697270G	NF2	NM_000268.4(NF2):c.*2468C>G	noncoding	Benign
22	29697561	G	A	G29697561A	NF2	NM_000268.4(NF2):c.*2759G>A	noncoding	Benign
22	29698010	G	A	G29698010A	NF2	NM_000268.4(NF2):c.*3208G>A	noncoding	Benign
22	29698076	G	A	G29698076A	NF2	NM_000268.4(NF2):c.*3274G>A	noncoding	Benign
22	29698377	G	A	G29698377A	NF2	NM_000268.4(NF2):c.*3575G>A	noncoding	Benign
22	30098858	G	C	G30098858C	HORMAD2	NM_152510.4(HORMAD2):c.58G>C:p.Val20Leu	coding	Benign
22	30244004	C	T	C30244004T	LIF	NM_002309.5(LIF):c.256G>A:p.Val86Met	coding	Benign
22	30344925	C	G	C30344925G	SF3A1	NM_005877.6(SF3A1):c.651+8G>C	noncoding	Benign
22	30407590	A	G	A30407590G	SEC14L2	NM_012429.5(SEC14L2):c.410A>G:p.His137Arg	coding	Benign
22	30427161	C	T	C30427161T	MTFP1	NM_016498.5(MTFP1):c.196-10C>T	noncoding	Benign
22	30577088	C	T	C30577088T	PES1	NM_014303.4(PES1):c.1725G>A:p.Ala575=	coding	Benign
22	30607088	C	T	C30607088T	TCN2	NM_001184726.1(TCN2):c.-244C>T	noncoding	Benign
22	30607117	C	T	C30607117T	TCN2	NM_001184726.1(TCN2):c.-215C>T	noncoding	Benign
22	30607151	A	G	A30607151G	TCN2	NM_001184726.1(TCN2):c.-181A>G	noncoding	Benign
22	30610873	A	G	A30610873G	TCN2	NM_000355.4(TCN2):c.67A>G:p.Ile23Val	coding	Benign
22	30610895	T	G	T30610895G	TCN2	NM_000355.4(TCN2):c.89T>G:p.Leu30Arg	coding	Benign
22	30611036	A	T	A30611036T	TCN2	NM_000355.4(TCN2):c.230A>T:p.Lys77Met	coding	Benign
22	30612880	T	C	T30612880C	TCN2	NM_000355.4(TCN2):c.265T>C:p.Phe89Leu	coding	Benign
22	30612895	G	A	G30612895A	TCN2	NM_000355.4(TCN2):c.280G>A:p.Gly94Ser	coding	Benign/Likely_benign
22	30612945	C	T	C30612945T	TCN2	NM_000355.4(TCN2):c.330C>T:p.Leu110=	coding	Benign
22	30612975	G	A	G30612975A	TCN2	NM_000355.4(TCN2):c.360G>A:p.Arg120=	coding	Benign/Likely_benign
22	30613044	T	G	T30613044G	TCN2	NM_000355.4(TCN2):c.427+2T>G	noncoding	Pathogenic
22	30614422	C	T	C30614422T	TCN2	NM_000355.4(TCN2):c.501C>T:p.His167=	coding	Benign/Likely_benign
22	30614468	G	A	G30614468A	TCN2	NM_000355.4(TCN2):c.547G>A:p.Val183Met	coding	Benign/Likely_benign
22	30615125	A	T	A30615125T	TCN2	NM_000355.4(TCN2):c.581-176A>T	noncoding	Pathogenic
22	30615293	A	C	A30615293C	TCN2	NM_000355.4(TCN2):c.581-8A>C	noncoding	Benign
22	30615293	A	T	A30615293T	TCN2	NM_000355.4(TCN2):c.581-8A>T	noncoding	Benign
22	30615343	G	A	G30615343A	TCN2	NM_000355.4(TCN2):c.623G>A:p.Arg208His	coding	Benign/Likely_benign
22	30615363	C	T	C30615363T	TCN2	NM_000355.4(TCN2):c.643C>T:p.Arg215Trp	coding	Benign
22	30615623	G	C	G30615623C	TCN2	NM_000355.4(TCN2):c.776G>C:p.Arg259Pro	coding	Benign
22	30615687	T	C	T30615687C	TCN2	NM_000355.4(TCN2):c.840T>C:p.Asp280=	coding	Benign
22	30615718	C	T	C30615718T	TCN2	NM_000355.4(TCN2):c.871C>T:p.Gln291Ter	coding	Pathogenic
22	30615724	C	T	C30615724T	TCN2	NM_000355.4(TCN2):c.877C>T:p.Leu293=	coding	Benign/Likely_benign
22	30617317	C	T	C30617317T	TCN2	NM_000355.4(TCN2):c.941-13C>T	noncoding	Benign
22	30617387	C	T	C30617387T	TCN2	NM_000355.4(TCN2):c.998C>T:p.Thr333Met	coding	Benign
22	30617412	G	A	G30617412A	TCN2	NM_000355.4(TCN2):c.1023G>A:p.Pro341=	coding	Benign
22	30617432	C	T	C30617432T	TCN2	NM_000355.4(TCN2):c.1043C>T:p.Ser348Phe	coding	Benign
22	30622978	C	T	C30622978T	TCN2	NM_000355.4(TCN2):c.1117C>T:p.Gln373Ter	coding	Pathogenic
22	30622988	T	C	T30622988C	TCN2	NM_000355.4(TCN2):c.1127T>C:p.Leu376Ser	coding	Benign
22	30623057	G	A	G30623057A	TCN2	NM_000355.4(TCN2):c.1196G>A:p.Arg399Gln	coding	Benign
22	30626550	C	A	C30626550A	TCN2	NM_000355.4(TCN2):c.*29C>A	noncoding	Benign
22	30626603	C	T	C30626603T	TCN2	NM_000355.4(TCN2):c.*82C>T	noncoding	Benign
22	30626648	C	T	C30626648T	TCN2	NM_000355.4(TCN2):c.*127C>T	noncoding	Benign
22	30626746	A	T	A30626746T	TCN2	NM_000355.4(TCN2):c.*225A>T	noncoding	Benign
22	30626903	C	T	C30626903T	TCN2	NM_000355.4(TCN2):c.*382C>T	noncoding	Benign
22	30626965	C	T	C30626965T	TCN2	NM_000355.4(TCN2):c.*444C>T	noncoding	Benign
22	30694984	G	C	G30694984C	OSBP2	NM_030758.4(OSBP2):c.75G>C:p.Thr25=	coding	Benign
22	30695278	A	G	A30695278G	OSBP2	NM_030758.4(OSBP2):c.369A>G:p.Ala123=	coding	Benign
22	30695318	C	T	C30695318T	OSBP2	NM_030758.4(OSBP2):c.409C>T:p.Leu137Phe	coding	Benign
22	30870565	C	T	C30870565T	OSBP2	NM_030758.4(OSBP2):c.990C>T:p.Leu330=	coding	Benign
22	30889243	G	C	G30889243C	OSBP2	NM_030758.4(OSBP2):c.1476+9G>C	noncoding	Benign
22	30890856	T	C	T30890856C	OSBP2	NM_030758.4(OSBP2):c.1752T>C:p.Ser584=	coding	Benign
22	30893490	G	C	G30893490C	OSBP2	NM_030758.4(OSBP2):c.2018G>C:p.Ser673Thr	coding	Benign
22	30928010	C	G	C30928010G	MORC2	NM_001303256.3(MORC2):c.3030+9G>C	noncoding	Benign
22	30928060	G	A	G30928060A	MORC2	NM_001303256.3(MORC2):c.2989C>T:p.Leu997=	coding	Benign
22	30932446	A	G	A30932446G	MORC2	NM_001303256.3(MORC2):c.2754T>C:p.Cys918=	coding	Benign
22	30932643	G	A	G30932643A	MORC2	NM_001303256.3(MORC2):c.2649C>T:p.Val883=	coding	Benign
22	30932709	G	A	G30932709A	MORC2	NM_001303256.3(MORC2):c.2583C>T:p.Ser861=	coding	Benign
22	30932942	C	G	C30932942G	MORC2	NM_001303256.3(MORC2):c.2469G>C:p.Arg823=	coding	Benign
22	30934147	T	C	T30934147C	MORC2	NM_001303256.3(MORC2):c.2238A>G:p.Glu746=	coding	Benign
22	30936507	G	A	G30936507A	MORC2	NM_001303256.3(MORC2):c.1737+4C>T	noncoding	Benign
22	30937046	A	G	A30937046G	MORC2	NM_001303256.3(MORC2):c.1499-9T>C	noncoding	Benign
22	30939980	T	A	T30939980A	MORC2	NM_001303256.3(MORC2):c.966A>T:p.Gly322=	coding	Benign
22	30940768	T	C	T30940768C	MORC2	NM_001303256.3(MORC2):c.894A>G:p.Val298=	coding	Benign
22	30941503	G	A	G30941503A	MORC2	NM_001303256.3(MORC2):c.754C>T:p.Arg252Trp	coding	Pathogenic
22	30941550	T	G	T30941550G	MORC2	NM_001303256.3(MORC2):c.707A>C:p.Glu236Ala	coding	Pathogenic
22	30941963	T	C	T30941963C	MORC2	NM_001303256.3(MORC2):c.626A>G:p.Asn209Ser	coding	Benign
22	30942209	C	A	C30942209A	MORC2	NM_001303256.3(MORC2):c.489G>T:p.Glu163Asp	coding	Benign
22	30949809	G	A	G30949809A	MORC2	NM_001303256.3(MORC2):c.260C>T:p.Ser87Leu	coding	Pathogenic
22	30949835	A	C	A30949835C	MORC2	NM_001303256.3(MORC2):c.234T>G:p.Ala78=	coding	Benign
22	30958684	C	T	C30958684T	MORC2	NM_001303256.3(MORC2):c.79G>A:p.Glu27Lys	coding	Pathogenic
22	30967827	T	C	T30967827C	MORC2	NM_001303256.3(MORC2):c.63A>G:p.Thr21=	coding	Benign
22	31082956	G	A	G31082956A	SMTN	NM_134269.3(SMTN):c.-80-223G>A	coding	Benign
22	31089937	C	T	C31089937T	SMTN	NM_134269.3(SMTN):c.710C>T:p.Pro237Leu	coding	Benign
22	31090868	C	A	C31090868A	SMTN	NM_134269.3(SMTN):c.926C>A:p.Ala309Asp	coding	Benign
22	31091747	G	A	G31091747A	SMTN	NM_134269.3(SMTN):c.1532G>A:p.Arg511His	coding	Benign
22	31133156	G	A	G31133156A	INPP5J	NM_001284285.2(INPP5J):c.2252G>A:p.Arg751Gln	coding	Benign
22	31134087	C	T	C31134087T	INPP5J	NM_001284285.2(INPP5J):c.2689C>T:p.Leu897Phe	coding	Benign
22	31192690	G	A	G31192690A	RNF185	NM_152267.4(RNF185):c.183G>A:p.Pro61=	coding	Benign
22	31267889	G	A	G31267889A	LIMK2	NM_005569.4(LIMK2):c.1242G>A:p.Lys414=	coding	Benign
22	31449456	T	G	T31449456G	EIF4ENIF1	NM_019843.4(EIF4ENIF1):c.1660A>C:p.Thr554Pro	coding	Benign
22	31454252	G	A	G31454252A	EIF4ENIF1	NM_019843.4(EIF4ENIF1):c.1404C>T:p.Ala468=	coding	Benign
22	31528812	G	A	G31528812A	SFI1	NM_001007467.3(SFI1):c.215G>A:p.Arg72His	coding	Benign
22	31611278	A	T	A31611278T	SFI1	NM_001007467.3(SFI1):c.2390A>T:p.His797Leu	coding	Benign
22	31618310	C	T	C31618310T	SFI1	NM_001007467.3(SFI1):c.3625-4C>T	noncoding	Benign
22	31620659	C	T	C31620659T	PISD	NM_001326411.1(PISD):c.899G>A:p.Cys300Tyr	coding	Pathogenic
22	31621010	C	T	C31621010T	PISD	NM_001326411.1(PISD):c.830G>A:p.Arg277Gln	coding	Pathogenic/Likely_pathogenic
22	31621329	C	T	C31621329T	PISD	NM_001326411.1(PISD):c.697+5G>A	noncoding	Pathogenic/Likely_pathogenic
22	31625771	C	T	C31625771T	PISD	NM_001326411.1(PISD):c.322-3886G>A	coding	Benign
22	31685698	G	A	G31685698A	PRR14L	NM_173566.3(PRR14L):c.6285C>T:p.Val2095=	coding	Benign
22	31712359	C	T	C31712359T	PRR14L	NM_173566.3(PRR14L):c.5480G>A:p.Cys1827Tyr	coding	Benign
22	31712852	A	G	A31712852G	PRR14L	NM_173566.3(PRR14L):c.4987T>C:p.Phe1663Leu	coding	Benign
22	31713941	C	T	C31713941T	PRR14L	NM_173566.3(PRR14L):c.3898G>A:p.Val1300Ile	coding	Benign
22	31714952	C	T	C31714952T	PRR14L	NM_173566.3(PRR14L):c.2887G>A:p.Asp963Asn	coding	Benign
22	31754865	G	C	G31754865C	DEPDC5	NM_001242897.2(DEPDC5):c.-57G>C	noncoding	Pathogenic
22	31754942	C	G	C31754942G	DEPDC5	NM_001242897.2(DEPDC5):c.21C>G:p.Tyr7Ter	coding	Pathogenic
22	31758545	G	C	G31758545C	DEPDC5	NM_001242897.2(DEPDC5):c.59-1G>C	noncoding	Pathogenic
22	31760703	G	A	G31760703A	DEPDC5	NM_001242897.2(DEPDC5):c.193+1G>A	coding	Pathogenic
22	31765061	G	A	G31765061A	DEPDC5	NM_001242897.2(DEPDC5):c.279+1G>A	coding	Pathogenic
22	31766584	G	A	G31766584A	DEPDC5	NM_001242897.2(DEPDC5):c.280-1G>A	noncoding	Pathogenic
22	31766624	C	T	C31766624T	DEPDC5	NM_001242896.3(DEPDC5):c.319C>T:p.Gln107Ter	coding	Pathogenic
22	31766651	C	T	C31766651T	DEPDC5	NM_001242897.2(DEPDC5):c.346C>T:p.Arg116Ter	coding	Pathogenic
22	31768804	C	T	C31768804T	DEPDC5	NM_001242897.2(DEPDC5):c.364-10C>T	noncoding	Benign
22	31778103	C	T	C31778103T	DEPDC5	NM_001242897.2(DEPDC5):c.418C>T:p.Gln140Ter	coding	Pathogenic
22	31778119	G	A	G31778119A	DEPDC5	NM_001242897.2(DEPDC5):c.434G>A:p.Trp145Ter	coding	Pathogenic
22	31778120	G	A	G31778120A	DEPDC5	NM_001242897.2(DEPDC5):c.435G>A:p.Trp145Ter	coding	Pathogenic
22	31783906	G	A	G31783906A	DEPDC5	NM_001242897.2(DEPDC5):c.484-1G>A	noncoding	Pathogenic
22	31783949	C	T	C31783949T	DEPDC5	NM_001242897.2(DEPDC5):c.526C>T:p.Gln176Ter	coding	Pathogenic
22	31783986	G	A	G31783986A	DEPDC5	NM_001242897.2(DEPDC5):c.562+1G>A	coding	Pathogenic/Likely_pathogenic
22	31792765	C	T	C31792765T	DEPDC5	NM_001242897.2(DEPDC5):c.715C>T:p.Arg239Ter	coding	Pathogenic
22	31792777	C	T	C31792777T	DEPDC5	NM_001242897.2(DEPDC5):c.727C>T:p.Arg243Ter	coding	Pathogenic
22	31792780	C	T	C31792780T	DEPDC5	NM_001242897.2(DEPDC5):c.730C>T:p.Gln244Ter	coding	Pathogenic
22	31797646	G	A	G31797646A	DEPDC5	NM_001242897.2(DEPDC5):c.814G>A:p.Val272Ile	coding	Benign/Likely_benign
22	31797688	C	T	C31797688T	DEPDC5	NM_001242897.2(DEPDC5):c.856C>T:p.Arg286Ter	coding	Pathogenic
22	31797694	G	T	G31797694T	DEPDC5	NM_001242896.3(DEPDC5):c.862G>T:p.Glu288Ter	coding	Pathogenic
22	31797697	C	T	C31797697T	DEPDC5	NM_001242897.2(DEPDC5):c.865C>T:p.Gln289Ter	coding	Pathogenic
22	31798595	A	G	A31798595G	DEPDC5	NM_001242897.2(DEPDC5):c.885A>G:p.Gln295=	coding	Benign
22	31798628	C	G	C31798628G	DEPDC5	NM_001242897.2(DEPDC5):c.918C>G:p.Tyr306Ter	coding	Pathogenic
22	31802739	C	T	C31802739T	DEPDC5	NM_001242897.2(DEPDC5):c.982C>T:p.Arg328Ter	coding	Pathogenic
22	31804175	T	C	T31804175C	DEPDC5	NM_001242897.2(DEPDC5):c.1095T>C:p.Asp365=	coding	Benign
22	31804194	C	T	C31804194T	DEPDC5	NM_001242897.2(DEPDC5):c.1114C>T:p.Gln372Ter	coding	Pathogenic
22	31804225	T	C	T31804225C	DEPDC5	NM_001242896.3(DEPDC5):c.1143+2T>C	noncoding	Pathogenic
22	31804863	C	T	C31804863T	DEPDC5	NM_001242897.2(DEPDC5):c.1165C>T:p.Arg389Cys	coding	Benign
22	31806128	C	A	C31806128A	DEPDC5	NM_001242897.2(DEPDC5):c.1224C>A:p.Tyr408Ter	coding	Pathogenic
22	31806168	C	T	C31806168T	DEPDC5	NM_001242897.2(DEPDC5):c.1264C>T:p.Arg422Ter	coding	Pathogenic
22	31809646	A	C	A31809646C	DEPDC5	NM_001242897.2(DEPDC5):c.1323A>C:p.Thr441=	coding	Benign
22	31810551	C	T	C31810551T	DEPDC5	NM_001242897.2(DEPDC5):c.1355C>T:p.Ala452Val	coding	Benign
22	31810585	C	T	C31810585T	DEPDC5	NM_001242897.2(DEPDC5):c.1389C>T:p.Asp463=	coding	Benign/Likely_benign
22	31810589	C	T	C31810589T	DEPDC5	NM_001242897.2(DEPDC5):c.1393C>T:p.Gln465Ter	coding	Pathogenic
22	31814999	C	T	C31814999T	DEPDC5	NM_001242897.2(DEPDC5):c.1453C>T:p.Arg485Ter	coding	Pathogenic
22	31815005	C	T	C31815005T	DEPDC5	NM_001242897.2(DEPDC5):c.1459C>T:p.Arg487Ter	coding	Pathogenic
22	31815018	G	C	G31815018C	DEPDC5	NM_001242897.2(DEPDC5):c.1472G>C:p.Ser491Thr	coding	Benign
22	31815101	C	T	C31815101T	DEPDC5	NM_001242897.2(DEPDC5):c.1555C>T:p.Gln519Ter	coding	Pathogenic
22	31815209	C	T	C31815209T	DEPDC5	NM_001242897.2(DEPDC5):c.1663C>T:p.Arg555Ter	coding	Pathogenic
22	31819114	C	T	C31819114T	DEPDC5	NM_001242897.2(DEPDC5):c.1759C>T:p.Arg587Ter	coding	Pathogenic
22	31821553	C	T	C31821553T	DEPDC5	NM_001242897.2(DEPDC5):c.1870+2328C>T	coding	Benign
22	31821635	A	G	A31821635G	DEPDC5	NM_001242897.2(DEPDC5):c.1870+2410A>G	coding	Benign
22	31822706	C	T	C31822706T	DEPDC5	NM_001242897.2(DEPDC5):c.1870+3481C>T	coding	Benign/Likely_benign
22	31822741	C	A	C31822741A	DEPDC5	NM_001242897.2(DEPDC5):c.1870+3516C>A	coding	Benign
22	31822758	T	C	T31822758C	DEPDC5	NM_001242897.2(DEPDC5):c.1870+3533T>C	coding	Benign
22	31822761	C	T	C31822761T	DEPDC5	NM_001242897.2(DEPDC5):c.1870+3536C>T	coding	Benign
22	31833945	C	T	C31833945T	DEPDC5	NM_001242897.2(DEPDC5):c.1901C>T:p.Ser634Phe	coding	Benign
22	31833949	A	G	A31833949G	DEPDC5	NM_001242897.2(DEPDC5):c.1905A>G:p.Leu635=	coding	Benign
22	31833991	G	A	G31833991A	DEPDC5	NM_001242897.2(DEPDC5):c.1936+11G>A	noncoding	Benign
22	31837042	C	G	C31837042G	DEPDC5	NM_001242897.2(DEPDC5):c.2007C>G:p.Leu669=	coding	Benign
22	31837126	T	A	T31837126A	DEPDC5	NM_001242897.2(DEPDC5):c.2091T>A:p.Tyr697Ter	coding	Pathogenic
22	31838683	A	G	A31838683G	DEPDC5	NM_001242897.2(DEPDC5):c.2121-2A>G	noncoding	Pathogenic
22	31838811	G	A	G31838811A	DEPDC5	NM_001242897.2(DEPDC5):c.2247G>A:p.Pro749=	coding	Benign
22	31838842	C	T	C31838842T	DEPDC5	NM_001242897.2(DEPDC5):c.2278C>T:p.Arg760Ter	coding	Pathogenic
22	31843106	C	T	C31843106T	DEPDC5	NM_001242897.2(DEPDC5):c.2293C>T:p.Arg765Ter	coding	Pathogenic
22	31843199	C	T	C31843199T	DEPDC5	NM_001242897.2(DEPDC5):c.2386C>T:p.Arg796Ter	coding	Pathogenic
22	31843753	G	A	G31843753A	DEPDC5	NM_001242897.2(DEPDC5):c.2508G>A:p.Glu836=	coding	Benign
22	31843820	A	G	A31843820G	DEPDC5	NM_001242897.2(DEPDC5):c.2567+8A>G	noncoding	Benign
22	31845042	G	A	G31845042A	DEPDC5	NM_001242896.3(DEPDC5):c.2826G>A:p.Trp942Ter	coding	Pathogenic
22	31845072	T	C	T31845072C	DEPDC5	NM_001242897.2(DEPDC5):c.2622T>C:p.Cys874=	coding	Benign
22	31846858	C	T	C31846858T	DEPDC5	NM_001242897.2(DEPDC5):c.2812C>T:p.Gln938Ter	coding	Pathogenic
22	31846904	C	A	C31846904A	DEPDC5	NM_001242897.2(DEPDC5):c.2858C>A:p.Pro953His	coding	Benign
22	31857502	C	T	C31857502T	DEPDC5	NM_001242896.3(DEPDC5):c.3213C>T:p.Ala1071=	coding	Benign
22	31857548	C	T	C31857548T	DEPDC5	NM_001242897.2(DEPDC5):c.3025C>T:p.Arg1009Ter	coding	Pathogenic
22	31870601	C	T	C31870601T	DEPDC5	NM_001242896.3(DEPDC5):c.3342C>T:p.Asp1114=	coding	Benign
22	31870617	A	G	A31870617G	DEPDC5	NM_001242897.2(DEPDC5):c.3058A>G:p.Met1020Val	coding	Benign
22	31870695	C	T	C31870695T	DEPDC5	NM_001242896.3(DEPDC5):c.3436C>T:p.Gln1146Ter	coding	Pathogenic
22	31874276	A	G	A31874276G	DEPDC5	NM_001242897.2(DEPDC5):c.3267A>G:p.Thr1089=	coding	Benign/Likely_benign
22	31874352	G	A	G31874352A	DEPDC5	NM_001242897.2(DEPDC5):c.3343G>A:p.Val1115Met	coding	Benign/Likely_benign
22	31874392	T	C	T31874392C	DEPDC5	NM_001242897.2(DEPDC5):c.3383T>C:p.Ile1128Thr	coding	Benign/Likely_benign
22	31874410	G	A	G31874410A	DEPDC5	NM_001242897.2(DEPDC5):c.3396+5G>A	noncoding	Pathogenic
22	31876262	C	T	C31876262T	DEPDC5	NM_001242897.2(DEPDC5):c.3502C>T:p.Arg1168Ter	coding	Pathogenic
22	31879529	C	T	C31879529T	DEPDC5	NM_001242897.2(DEPDC5):c.3510C>T:p.Ala1170=	coding	Benign/Likely_benign
22	31879587	C	T	C31879587T	DEPDC5	NM_001242897.2(DEPDC5):c.3568C>T:p.Gln1190Ter	coding	Pathogenic
22	31879713	C	T	C31879713T	DEPDC5	NM_001242897.2(DEPDC5):c.3694C>T:p.Arg1232Ter	coding	Pathogenic
22	31879757	A	G	A31879757G	DEPDC5	NM_001242897.2(DEPDC5):c.3733+5A>G	noncoding	Pathogenic
22	31893655	G	A	G31893655A	DEPDC5	NM_001242897.2(DEPDC5):c.3807G>A:p.Trp1269Ter	coding	Pathogenic
22	31893673	T	C	T31893673C	DEPDC5	NM_001242896.3(DEPDC5):c.4125T>C:p.His1375=	coding	Benign
22	31897485	C	T	C31897485T	DEPDC5	NM_001242897.2(DEPDC5):c.3907C>T:p.Gln1303Ter	coding	Pathogenic
22	31897565	C	G	C31897565G	DEPDC5	NM_001242897.2(DEPDC5):c.3987C>G:p.Tyr1329Ter	coding	Pathogenic
22	31897580	C	G	C31897580G	DEPDC5	NM_001242897.2(DEPDC5):c.4002C>G:p.Pro1334=	coding	Benign
22	31901763	G	A	G31901763A	DEPDC5	NM_001242897.2(DEPDC5):c.4097G>A:p.Trp1366Ter	coding	Pathogenic
22	31906048	C	T	C31906048T	DEPDC5	NM_001242897.2(DEPDC5):c.4201C>T:p.Gln1401Ter	coding	Pathogenic
22	31906059	C	T	C31906059T	DEPDC5	NM_001242897.2(DEPDC5):c.4212C>T:p.His1404=	coding	Benign
22	31906252	C	T	C31906252T	DEPDC5	NM_001242897.2(DEPDC5):c.4267C>T:p.Gln1423Ter	coding	Pathogenic
22	31906291	C	T	C31906291T	DEPDC5	NM_001242897.2(DEPDC5):c.4306C>T:p.Gln1436Ter	coding	Pathogenic
22	32043112	C	T	C32043112T	SLC5A1	NM_000343.3(SLC5A1):c.-170C>T	noncoding	Benign
22	32043287	C	T	C32043287T	SLC5A1	NM_000343.4(SLC5A1):c.6C>T:p.Asp2=	coding	Benign
22	32043331	T	C	T32043331C	SLC5A1	NM_000343.4(SLC5A1):c.50T>C:p.Val17Ala	coding	Benign
22	32043363	G	A	G32043363A	SLC5A1	NM_000343.4(SLC5A1):c.82G>A:p.Asp28Asn	coding	Pathogenic
22	32043364	A	G	A32043364G	SLC5A1	NM_000343.4(SLC5A1):c.83A>G:p.Asp28Gly	coding	Pathogenic
22	32049959	A	G	A32049959G	SLC5A1	NM_000343.4(SLC5A1):c.152A>G:p.Asn51Ser	coding	Benign
22	32049994	C	T	C32049994T	SLC5A1	NM_000343.4(SLC5A1):c.187C>T:p.Arg63Ter	coding	Pathogenic
22	32084573	C	T	C32084573T	SLC5A1	NM_000343.4(SLC5A1):c.799C>T:p.Arg267Ter	coding	Pathogenic
22	32086290	C	T	C32086290T	SLC5A1	NM_000343.4(SLC5A1):c.1092C>T:p.Ile364=	coding	Benign
22	32086334	T	G	T32086334G	SLC5A1	NM_000343.4(SLC5A1):c.1129+7T>G	noncoding	Benign
22	32091603	C	T	C32091603T	SLC5A1	NM_000343.4(SLC5A1):c.1130-9C>T	noncoding	Benign
22	32091713	G	A	G32091713A	SLC5A1	NM_000343.4(SLC5A1):c.1231G>A:p.Ala411Thr	coding	Benign
22	32091757	C	T	C32091757T	SLC5A1	NM_000343.4(SLC5A1):c.1275C>T:p.Ala425=	coding	Benign
22	32104781	T	C	T32104781C	SLC5A1	NM_000343.4(SLC5A1):c.1666-5T>C	noncoding	Benign
22	32110054	A	G	A32110054G	SLC5A1	NM_000343.4(SLC5A1):c.1836A>G:p.Leu612=	coding	Benign
22	32110063	C	G	C32110063G	SLC5A1	NM_000343.4(SLC5A1):c.1845C>G:p.His615Gln	coding	Benign
22	32110117	G	A	G32110117A	SLC5A1	NM_000343.4(SLC5A1):c.1899G>A:p.Thr633=	coding	Benign
22	32110156	C	T	C32110156T	SLC5A1	NM_000343.4(SLC5A1):c.1938C>T:p.Asn646=	coding	Benign
22	32110613	C	T	C32110613T	SLC5A1	NM_000343.4(SLC5A1):c.*400C>T	noncoding	Benign
22	32110919	C	T	C32110919T	SLC5A1	NM_000343.4(SLC5A1):c.*706C>T	noncoding	Benign
22	32110984	C	T	C32110984T	SLC5A1	NM_000343.4(SLC5A1):c.*771C>T	noncoding	Benign
22	32111008	G	T	G32111008T	SLC5A1	NM_000343.4(SLC5A1):c.*795G>T	noncoding	Benign
22	32111115	T	G	T32111115G	SLC5A1	NM_000343.4(SLC5A1):c.*902T>G	noncoding	Benign
22	32111645	G	T	G32111645T	SLC5A1	NM_000343.4(SLC5A1):c.*1432G>T	noncoding	Benign
22	32395164	C	G	C32395164G	RTCB	NM_014306.5(RTCB):c.1041G>C:p.Val347=	coding	Benign
22	32396236	A	G	A32396236G	RTCB	NM_014306.5(RTCB):c.828T>C:p.Ala276=	coding	Benign
22	32474782	C	T	C32474782T	FBXO7	NM_012179.3(FBXO7):c.-221C>T	noncoding	Benign
22	32474819	C	T	C32474819T	FBXO7	NM_012179.4(FBXO7):c.-184C>T	noncoding	Benign
22	32475067	C	T	C32475067T	FBXO7	NM_012179.4(FBXO7):c.65C>T:p.Thr22Met	coding	Pathogenic
22	32475396	T	G	T32475396G	FBXO7	NM_012179.4(FBXO7):c.122+272T>G	coding	Benign
22	32479203	G	A	G32479203A	FBXO7	NM_012179.4(FBXO7):c.345G>A:p.Met115Ile	coding	Benign
22	32484019	A	G	A32484019G	FBXO7	NM_012179.4(FBXO7):c.540A>G:p.Pro180=	coding	Benign/Likely_benign
22	32491163	C	T	C32491163T	FBXO7	NM_012179.4(FBXO7):c.949C>T:p.Leu317=	coding	Benign
22	32493091	T	G	T32493091G	FBXO7	NM_012179.4(FBXO7):c.968-14T>G	noncoding	Benign
22	32493262	A	G	A32493262G	FBXO7	NM_012179.4(FBXO7):c.1125A>G:p.Leu375=	coding	Benign/Likely_benign
22	32493269	C	G	C32493269G	FBXO7	NM_012179.4(FBXO7):c.1132C>G:p.Arg378Gly	coding	Pathogenic
22	32493282	G	T	G32493282T	FBXO7	NM_012179.4(FBXO7):c.1144+1G>T	coding	Pathogenic
22	32498233	C	T	C32498233T	FBXO7	NM_012179.4(FBXO7):c.1272C>T:p.Phe424=	coding	Benign
22	32498453	C	T	C32498453T	FBXO7	NM_012179.4(FBXO7):c.1492C>T:p.Arg498Ter	coding	Pathogenic
22	32518080	C	G	C32518080G	SYN3	NM_003490.4(SYN3):c.1573G>C:p.Glu525Gln	coding	Benign
22	32518325	C	T	C32518325T	SYN3	NM_003490.4(SYN3):c.1328G>A:p.Arg443His	coding	Benign
22	32801088	A	G	A32801088G	TIMP3	NM_003490.4(SYN3):c.711+63827T>C	coding	Benign
22	32801104	T	A	T32801104A	TIMP3	NM_003490.4(SYN3):c.711+63811A>T	coding	Benign
22	32801469	G	A	G32801469A	TIMP3	NM_003490.4(SYN3):c.711+63446C>T	coding	Benign
22	32801531	C	A	C32801531A	TIMP3	NM_003490.4(SYN3):c.711+63384G>T	coding	Benign
22	32801885	G	A	G32801885A	TIMP3	NM_003490.4(SYN3):c.711+63030C>T	coding	Benign
22	32802114	C	G	C32802114G	TIMP3	NM_003490.4(SYN3):c.711+62801G>C	coding	Pathogenic
22	32857293	T	C	T32857293C	TIMP3	NM_003490.4(SYN3):c.711+7622A>G	coding	Benign
22	32857305	C	T	C32857305T	TIMP3	NM_003490.4(SYN3):c.711+7610G>A	coding	Benign
22	32857333	G	A	G32857333A	TIMP3	NM_003490.4(SYN3):c.711+7582C>T	coding	Benign
22	32859168	A	G	A32859168G	TIMP3	NM_003490.4(SYN3):c.711+5747T>C	noncoding	Benign
22	32859225	G	T	G32859225T	TIMP3	NM_003490.4(SYN3):c.711+5690C>A	coding	Pathogenic
22	32859277	C	G	C32859277G	TIMP3	NM_003490.4(SYN3):c.711+5638G>C	coding	Pathogenic
22	32859306	G	T	G32859306T	TIMP3	NM_003490.4(SYN3):c.711+5609C>A	coding	Pathogenic
22	32859313	A	G	A32859313G	TIMP3	NM_003490.4(SYN3):c.711+5602T>C	coding	Pathogenic
22	32859351	A	T	A32859351T	TIMP3	NM_003490.4(SYN3):c.711+5564T>A	coding	Pathogenic
22	32859915	G	T	G32859915T	TIMP3	NM_003490.4(SYN3):c.711+5000C>A	coding	Benign
22	32859992	C	T	C32859992T	TIMP3	NM_003490.4(SYN3):c.711+4923G>A	coding	Benign
22	32860619	G	A	G32860619A	TIMP3	NM_003490.4(SYN3):c.711+4296C>T	coding	Benign
22	32860872	G	A	G32860872A	TIMP3	NM_003490.4(SYN3):c.711+4043C>T	coding	Benign
22	32861094	A	G	A32861094G	TIMP3	NM_003490.4(SYN3):c.711+3821T>C	coding	Benign
22	32861277	C	T	C32861277T	TIMP3	NM_003490.4(SYN3):c.711+3638G>A	coding	Benign
22	32861335	T	C	T32861335C	TIMP3	NM_003490.4(SYN3):c.711+3580A>G	coding	Benign
22	32861410	G	T	G32861410T	TIMP3	NM_003490.4(SYN3):c.711+3505C>A	coding	Benign
22	32861480	C	T	C32861480T	TIMP3	NM_003490.4(SYN3):c.711+3435G>A	coding	Benign
22	32861499	C	G	C32861499G	TIMP3	NM_003490.4(SYN3):c.711+3416G>C	coding	Benign
22	32861565	C	T	C32861565T	TIMP3	NM_003490.4(SYN3):c.711+3350G>A	coding	Benign
22	32861690	C	A	C32861690A	TIMP3	NM_003490.4(SYN3):c.711+3225G>T	coding	Benign
22	32861733	C	T	C32861733T	TIMP3	NM_003490.4(SYN3):c.711+3182G>A	coding	Benign
22	32861790	G	T	G32861790T	TIMP3	NM_003490.4(SYN3):c.711+3125C>A	coding	Benign
22	32861921	G	A	G32861921A	TIMP3	NM_003490.4(SYN3):c.711+2994C>T	coding	Benign
22	32862028	T	C	T32862028C	TIMP3	NM_003490.4(SYN3):c.711+2887A>G	coding	Benign
22	32862045	T	C	T32862045C	TIMP3	NM_003490.4(SYN3):c.711+2870A>G	coding	Benign
22	32862063	C	T	C32862063T	TIMP3	NM_003490.4(SYN3):c.711+2852G>A	coding	Benign
22	32862230	G	A	G32862230A	TIMP3	NM_003490.4(SYN3):c.711+2685C>T	coding	Benign
22	32862301	T	C	T32862301C	TIMP3	NM_003490.4(SYN3):c.711+2614A>G	coding	Benign
22	32862387	G	A	G32862387A	TIMP3	NM_003490.4(SYN3):c.711+2528C>T	coding	Benign
22	32862405	G	A	G32862405A	TIMP3	NM_003490.4(SYN3):c.711+2510C>T	coding	Benign
22	32862461	T	C	T32862461C	TIMP3	NM_003490.4(SYN3):c.711+2454A>G	coding	Benign
22	32862534	T	C	T32862534C	TIMP3	NM_003490.4(SYN3):c.711+2381A>G	coding	Benign
22	32862659	C	T	C32862659T	TIMP3	NM_003490.4(SYN3):c.711+2256G>A	coding	Benign
22	32862790	C	T	C32862790T	TIMP3	NM_003490.4(SYN3):c.711+2125G>A	coding	Benign
22	32862859	C	T	C32862859T	TIMP3	NM_003490.4(SYN3):c.711+2056G>A	coding	Benign
22	33006519	C	A	C33006519A	SYN3	NM_003490.4(SYN3):c.144G>T:p.Leu48=	coding	Benign
22	33006531	G	A	G33006531A	SYN3	NM_003490.4(SYN3):c.132C>T:p.His44=	coding	Benign
22	33006595	G	A	G33006595A	SYN3	NM_003490.4(SYN3):c.68C>T:p.Thr23Met	coding	Benign
22	33273226	T	C	T33273226C	LARGE1	NM_004737.6(LARGE1):c.*1201A>G	noncoding	Benign
22	33273506	G	C	G33273506C	LARGE1	NM_004737.6(LARGE1):c.*921C>G	noncoding	Benign
22	33273571	C	T	C33273571T	LARGE1	NM_004737.6(LARGE1):c.*856G>A	noncoding	Benign
22	33273687	T	C	T33273687C	LARGE1	NM_004737.6(LARGE1):c.*740A>G	noncoding	Benign
22	33274220	C	T	C33274220T	LARGE1	NM_004737.6(LARGE1):c.*207G>A	noncoding	Benign
22	33274273	G	T	G33274273T	LARGE1	NM_004737.6(LARGE1):c.*154C>A	noncoding	Benign
22	33274598	G	A	G33274598A	LARGE1	NM_004737.6(LARGE1):c.2100C>T:p.Asn700=	coding	Benign/Likely_benign
22	33274609	C	A	C33274609A	LARGE1	NM_004737.6(LARGE1):c.2089G>T:p.Val697Leu	coding	Pathogenic
22	33277024	G	A	G33277024A	LARGE1	NM_004737.6(LARGE1):c.2073+36C>T	noncoding	Benign
22	33277132	G	A	G33277132A	LARGE1	NM_004737.6(LARGE1):c.2001C>T:p.Cys667=	coding	Benign
22	33277139	C	T	C33277139T	LARGE1	NM_004737.6(LARGE1):c.1994G>A:p.Arg665His	coding	Benign/Likely_benign
22	33277184	C	T	C33277184T	LARGE1	NM_004737.6(LARGE1):c.1949G>A:p.Arg650Gln	coding	Benign/Likely_benign
22	33283019	G	A	G33283019A	LARGE1	NM_004737.6(LARGE1):c.1877+183C>T	noncoding	Benign
22	33283252	T	C	T33283252C	LARGE1	NM_004737.6(LARGE1):c.1827A>G:p.Ser609=	coding	Benign
22	33283303	C	A	C33283303A	LARGE1	NM_004737.6(LARGE1):c.1776G>T:p.Met592Ile	coding	Benign/Likely_benign
22	33283372	A	G	A33283372G	LARGE1	NM_004737.6(LARGE1):c.1731-24T>C	noncoding	Benign/Likely_benign
22	33283439	G	C	G33283439C	LARGE1	NM_004737.6(LARGE1):c.1731-91C>G	noncoding	Benign
22	33303943	T	C	T33303943C	LARGE1	NM_004737.6(LARGE1):c.1730+286A>G	noncoding	Benign
22	33303990	C	T	C33303990T	LARGE1	NM_004737.6(LARGE1):c.1730+239G>A	noncoding	Benign
22	33304111	C	T	C33304111T	LARGE1	NM_004737.6(LARGE1):c.1730+118G>A	noncoding	Benign
22	33304162	T	C	T33304162C	LARGE1	NM_004737.6(LARGE1):c.1730+67A>G	noncoding	Benign
22	33304411	G	A	G33304411A	LARGE1	NM_004737.6(LARGE1):c.1548C>T:p.Tyr516=	coding	Benign/Likely_benign
22	33304434	C	T	C33304434T	LARGE1	NM_004737.6(LARGE1):c.1525G>A:p.Glu509Lys	coding	Pathogenic
22	33304476	A	G	A33304476G	LARGE1	NM_004737.6(LARGE1):c.1483T>C:p.Trp495Arg	coding	Pathogenic
22	33304535	G	A	G33304535A	LARGE1	NM_004737.6(LARGE1):c.1452-28C>T	noncoding	Benign/Likely_benign
22	33304716	A	G	A33304716G	LARGE1	NM_004737.6(LARGE1):c.1452-209T>C	noncoding	Benign
22	33337541	C	G	C33337541G	LARGE1	NM_004737.6(LARGE1):c.1287+105G>C	noncoding	Benign
22	33337954	G	A	G33337954A	LARGE1	NM_004737.6(LARGE1):c.1132-153C>T	noncoding	Benign
22	33337976	T	C	T33337976C	LARGE1	NM_004737.6(LARGE1):c.1132-175A>G	noncoding	Benign
22	33337991	C	A	C33337991A	LARGE1	NM_004737.6(LARGE1):c.1132-190G>T	noncoding	Benign
22	33338009	C	T	C33338009T	LARGE1	NM_004737.6(LARGE1):c.1132-208G>A	noncoding	Benign
22	33381948	G	A	G33381948A	LARGE1	NM_004737.6(LARGE1):c.1102C>T:p.Gln368Ter	coding	Pathogenic
22	33382042	A	G	A33382042G	LARGE1	NM_004737.6(LARGE1):c.1008T>C:p.Asp336=	coding	Benign
22	33382239	C	T	C33382239T	LARGE1	NM_004737.6(LARGE1):c.1006-195G>A	noncoding	Benign
22	33384205	G	A	G33384205A	LARGE1	NM_004737.6(LARGE1):c.992C>T:p.Ser331Phe	coding	Pathogenic
22	33384273	C	T	C33384273T	LARGE1	NM_004737.6(LARGE1):c.924G>A:p.Arg308=	coding	Benign
22	33384300	C	G	C33384300G	LARGE1	NM_004737.6(LARGE1):c.897G>C:p.Val299=	coding	Benign
22	33384321	G	C	G33384321C	LARGE1	NM_004737.6(LARGE1):c.893-17C>G	noncoding	Benign
22	33384539	A	C	A33384539C	LARGE1	NM_004737.6(LARGE1):c.893-235T>G	noncoding	Benign
22	33432082	A	C	A33432082C	LARGE1	NM_004737.6(LARGE1):c.892+79T>G	noncoding	Benign
22	33432111	G	A	G33432111A	LARGE1	NM_004737.6(LARGE1):c.892+50C>T	noncoding	Benign
22	33432446	C	T	C33432446T	LARGE1	NM_004737.6(LARGE1):c.788-181G>A	noncoding	Benign
22	33564690	A	G	A33564690G	LARGE1	NM_004737.6(LARGE1):c.787+158T>C	noncoding	Benign
22	33564728	C	G	C33564728G	LARGE1	NM_004737.6(LARGE1):c.787+120G>C	noncoding	Benign
22	33604189	T	C	T33604189C	LARGE1	NM_004737.6(LARGE1):c.615+246A>G	noncoding	Benign
22	33604244	T	C	T33604244C	LARGE1	NM_004737.6(LARGE1):c.615+191A>G	noncoding	Benign
22	33604296	C	G	C33604296G	LARGE1	NM_004737.6(LARGE1):c.615+139G>C	noncoding	Benign
22	33604474	G	A	G33604474A	LARGE1	NM_004737.6(LARGE1):c.576C>T:p.Pro192=	coding	Benign
22	33604498	C	T	C33604498T	LARGE1	NM_004737.6(LARGE1):c.552G>A:p.Thr184=	coding	Benign
22	33626300	G	A	G33626300A	LARGE1	NM_004737.6(LARGE1):c.435C>T:p.Ala145=	coding	Benign
22	33650120	C	T	C33650120T	LARGE1	NM_004737.6(LARGE1):c.408+247G>A	noncoding	Benign
22	33650223	C	T	C33650223T	LARGE1	NM_004737.6(LARGE1):c.408+144G>A	noncoding	Benign
22	33650441	C	A	C33650441A	LARGE1	NM_133642.5(LARGE1):c.334G>T:p.Glu112Ter	coding	Pathogenic
22	33650466	G	A	G33650466A	LARGE1	NM_004737.6(LARGE1):c.309C>T:p.Ser103=	coding	Benign/Likely_benign
22	33650492	G	A	G33650492A	LARGE1	NM_004737.6(LARGE1):c.283C>T:p.Arg95Ter	coding	Pathogenic
22	33650524	C	G	C33650524G	LARGE1	NM_004737.6(LARGE1):c.251G>C:p.Ser84Thr	coding	Benign/Likely_benign
22	33650610	C	G	C33650610G	LARGE1	NM_004737.6(LARGE1):c.165G>C:p.Thr55=	coding	Benign
22	33650612	T	C	T33650612C	LARGE1	NM_004737.6(LARGE1):c.163A>G:p.Thr55Ala	coding	Benign/Likely_benign
22	33650852	C	G	C33650852G	LARGE1	NM_004737.6(LARGE1):c.107-184G>C	noncoding	Benign
22	33761507	C	T	C33761507T	LARGE1	NM_004737.6(LARGE1):c.-31G>A	noncoding	Benign/Likely_benign
22	33761539	G	A	G33761539A	LARGE1	NM_004737.6(LARGE1):c.-63C>T	noncoding	Benign
22	33761827	T	C	T33761827C	LARGE1	NM_004737.6(LARGE1):c.-82-269A>G	noncoding	Benign
22	33856778	C	G	C33856778G	LARGE1	NM_004737.6(LARGE1):c.-121G>C	noncoding	Benign
22	33856793	A	C	A33856793C	LARGE1	NM_004737.6(LARGE1):c.-136T>G	noncoding	Benign/Likely_benign
22	33920061	C	G	C33920061G	LARGE1	NM_004737.6(LARGE1):c.-212G>C	noncoding	Benign
22	33920089	G	A	G33920089A	LARGE1	NM_004737.6(LARGE1):c.-240C>T	noncoding	Benign
22	33920309	G	C	G33920309C	LARGE1	NM_004737.6(LARGE1):c.-460C>G	noncoding	Benign
22	35067222	T	C	T35067222C	ISX	NM_001303508.2(ISX):c.135T>C:p.Asp45=	coding	Benign
22	35082651	C	T	C35082651T	ISX	NM_001303508.2(ISX):c.363C>T:p.Leu121=	coding	Benign
22	35085668	G	T	G35085668T	ISX	NM_001303508.2(ISX):c.713G>T:p.Gly238Val	coding	Benign
22	35317938	C	T	C35317938T	TOM1	NM_005488.3(TOM1):c.114C>T:p.Asp38=	coding	Benign
22	35327327	G	A	G35327327A	TOM1	NM_005488.3(TOM1):c.705G>A:p.Ser235=	coding	Benign
22	35386831	C	T	C35386831T	HMOX1	NM_002133.3(HMOX1):c.291C>T:p.Tyr97=	coding	Benign
22	35386870	C	T	C35386870T	HMOX1	NM_002133.3(HMOX1):c.330C>T:p.Ala110=	coding	Benign
22	35387143	A	G	A35387143G	HMOX1	NM_002133.3(HMOX1):c.603A>G:p.Glu201=	coding	Benign
22	35393571	A	G	A35393571G	HMOX1	NM_002133.3(HMOX1):c.840A>G:p.Thr280=	coding	Benign
22	35400612	C	T	C35400612T	MCM5	NM_006739.4(MCM5):c.167+7C>T	noncoding	Benign
22	35410763	G	A	G35410763A	MCM5	NM_006739.4(MCM5):c.772G>A:p.Val258Ile	coding	Benign
22	35416388	C	T	C35416388T	MCM5	NM_006739.4(MCM5):c.1397C>T:p.Thr466Ile	coding	Pathogenic
22	35420022	C	T	C35420022T	MCM5	NM_006739.4(MCM5):c.1832+10C>T	noncoding	Benign
22	35423257	C	T	C35423257T	MCM5	NM_006739.4(MCM5):c.2019C>T:p.Ser673=	coding	Benign
22	35423317	C	T	C35423317T	MCM5	NM_006739.4(MCM5):c.2079C>T:p.Ser693=	coding	Benign
22	35610910	G	A	G35610910A	MB	NM_005368.3(MB):c.292C>T:p.His98Tyr	coding	Pathogenic
22	35726309	G	A	G35726309A	APOL5	NM_030642.1(APOL5):c.241G>A:p.Glu81Lys	coding	Benign
22	35761304	T	G	T35761304G	RBFOX2	NM_001082578.3(RBFOX2):c.872-10A>C	noncoding	Benign
22	35809795	T	C	T35809795C	RBFOX2	NM_001082578.3(RBFOX2):c.447A>G:p.Gln149=	coding	Benign
22	35809897	T	C	T35809897C	RBFOX2	NM_001082578.3(RBFOX2):c.345A>G:p.Pro115=	coding	Benign
22	35938880	T	C	T35938880C	RBFOX2	NM_001082578.3(RBFOX2):c.204A>G:p.Pro68=	coding	Benign
22	36141727	C	T	C36141727T	APOL3	NM_145640.2(APOL3):c.682G>A:p.Ala228Thr	coding	Benign
22	36141750	G	A	G36141750A	APOL3	NM_145640.2(APOL3):c.659C>T:p.Thr220Ile	coding	Benign
22	36142005	G	A	G36142005A	APOL3	NM_145640.2(APOL3):c.404C>T:p.Ala135Val	coding	Benign
22	36145519	T	C	T36145519C	APOL3	NM_145640.2(APOL3):c.304A>G:p.Asn102Asp	coding	Benign
22	36160681	T	C	T36160681C	APOL3	NM_145640.2(APOL3):c.211A>G:p.Arg71Gly	coding	Benign
22	36160826	G	A	G36160826A	APOL3	NM_145640.2(APOL3):c.66C>T:p.Cys22=	coding	Benign
22	36228185	C	T	C36228185T	APOL2	NM_030882.4(APOL2):c.233G>A:p.Arg78Lys	coding	Benign
22	36265308	C	T	C36265308T	APOL1	NM_003661.4(APOL1):c.472C>T:p.Leu158Phe	coding	Benign
22	36265363	A	G	A36265363G	APOL1	NM_003661.4(APOL1):c.527A>G:p.Asn176Ser	coding	Benign
22	36265409	C	T	C36265409T	APOL1	NM_003661.4(APOL1):c.573C>T:p.Leu191=	coding	Benign
22	36265603	A	G	A36265603G	APOL1	NM_003661.4(APOL1):c.767A>G:p.Glu256Gly	coding	Benign
22	36265645	G	A	G36265645A	APOL1	NM_003661.4(APOL1):c.809G>A:p.Gly270Asp	coding	Benign
22	36265796	G	A	G36265796A	APOL1	NM_003661.4(APOL1):c.960G>A:p.Arg320=	coding	Benign
22	36265845	G	A	G36265845A	APOL1	NM_003661.4(APOL1):c.1009G>A:p.Asp337Asn	coding	Benign
22	36265952	G	A	G36265952A	APOL1	NM_003661.4(APOL1):c.1116G>A:p.Lys372=	coding	Benign
22	36281339	G	A	G36281339A	MYH9	NM_002473.5(MYH9):c.*1329C>T	noncoding	Benign/Likely_benign
22	36281354	G	A	G36281354A	MYH9	NM_002473.5(MYH9):c.*1314C>T	noncoding	Benign
22	36281762	C	A	C36281762A	MYH9	NM_002473.5(MYH9):c.*906G>T	noncoding	Benign
22	36281868	A	G	A36281868G	MYH9	NM_002473.5(MYH9):c.*800T>C	noncoding	Benign
22	36281936	G	A	G36281936A	MYH9	NM_002473.5(MYH9):c.*732C>T	noncoding	Benign
22	36281982	G	A	G36281982A	MYH9	NM_002473.5(MYH9):c.*686C>T	noncoding	Benign/Likely_benign
22	36282072	C	T	C36282072T	MYH9	NM_002473.5(MYH9):c.*596G>A	noncoding	Benign
22	36282339	G	A	G36282339A	MYH9	NM_002473.5(MYH9):c.*329C>T	noncoding	Benign/Likely_benign
22	36282343	G	A	G36282343A	MYH9	NM_002473.6(MYH9):c.*325C>T	noncoding	Benign/Likely_benign
22	36282356	G	A	G36282356A	MYH9	NM_002473.5(MYH9):c.*312C>T	noncoding	Benign
22	36282407	C	G	C36282407G	MYH9	NM_002473.5(MYH9):c.*261G>C	noncoding	Benign
22	36282425	G	A	G36282425A	MYH9	NM_002473.5(MYH9):c.*243C>T	noncoding	Benign
22	36282430	C	A	C36282430A	MYH9	NM_002473.5(MYH9):c.*238G>T	noncoding	Benign
22	36282531	G	T	G36282531T	MYH9	NM_002473.5(MYH9):c.*137C>A	noncoding	Benign
22	36282532	G	T	G36282532T	MYH9	NM_002473.5(MYH9):c.*136C>A	noncoding	Benign
22	36282587	G	A	G36282587A	MYH9	NM_002473.5(MYH9):c.*81C>T	noncoding	Benign/Likely_benign
22	36282674	G	A	G36282674A	MYH9	NM_002473.6(MYH9):c.5877C>T:p.Ala1959=	coding	Benign/Likely_benign
22	36282733	C	T	C36282733T	MYH9	NM_002473.6(MYH9):c.5818G>A:p.Gly1940Arg	coding	Benign/Likely_benign
22	36282736	C	T	C36282736T	MYH9	NM_002473.6(MYH9):c.5815G>A:p.Ala1939Thr	coding	Benign/Likely_benign
22	36282754	G	A	G36282754A	MYH9	NM_002473.5(MYH9):c.5797C>T:p.Arg1933Ter	coding	Pathogenic
22	36282770	C	A	C36282770A	MYH9	NM_002473.6(MYH9):c.5781G>T:p.Pro1927=	coding	Benign
22	36284084	G	A	G36284084A	MYH9	NM_002473.5(MYH9):c.5765+9C>T	noncoding	Benign/Likely_benign
22	36284149	G	A	G36284149A	MYH9	NM_002473.6(MYH9):c.5709C>T:p.Ala1903=	coding	Benign/Likely_benign
22	36284279	C	A	C36284279A	MYH9	NM_002473.6(MYH9):c.5593-14G>T	noncoding	Benign/Likely_benign
22	36284453	G	C	G36284453C	MYH9	NM_002473.6(MYH9):c.5542C>G:p.Leu1848Val	coding	Benign
22	36284474	C	T	C36284474T	MYH9	NM_002473.5(MYH9):c.5521G>A:p.Glu1841Lys	coding	Pathogenic
22	36285117	G	C	G36285117C	MYH9	NM_002473.6(MYH9):c.5483+4C>G	noncoding	Benign
22	36285327	G	A	G36285327A	MYH9	NM_002473.5(MYH9):c.5277C>T:p.Ile1759=	coding	Benign/Likely_benign
22	36285751	C	T	C36285751T	MYH9	NM_002473.6(MYH9):c.5181G>A:p.Leu1727=	coding	Benign/Likely_benign
22	36285872	C	T	C36285872T	MYH9	NM_002473.6(MYH9):c.5143G>A:p.Gly1715Ser	coding	Benign/Likely_benign
22	36285878	T	C	T36285878C	MYH9	NM_002473.5(MYH9):c.5137A>G:p.Ser1713Gly	coding	Pathogenic
22	36286688	G	A	G36286688A	MYH9	NM_002473.5(MYH9):c.5061+30C>T	noncoding	Benign
22	36286769	C	T	C36286769T	MYH9	NM_002473.6(MYH9):c.5010G>A:p.Glu1670=	coding	Benign/Likely_benign
22	36286823	G	A	G36286823A	MYH9	NM_002473.6(MYH9):c.4956C>T:p.Arg1652=	coding	Benign/Likely_benign
22	36288285	C	T	C36288285T	MYH9	NM_002473.6(MYH9):c.4899G>A:p.Arg1633=	coding	Benign
22	36288308	T	C	T36288308C	MYH9	NM_002473.6(MYH9):c.4876A>G:p.Ile1626Val	coding	Benign
22	36288312	C	A	C36288312A	MYH9	NM_002473.6(MYH9):c.4872G>T:p.Ala1624=	coding	Benign
22	36288770	C	T	C36288770T	MYH9	NM_002473.6(MYH9):c.4727G>A:p.Arg1576Gln	coding	Benign/Likely_benign
22	36288934	G	A	G36288934A	MYH9	NM_002473.6(MYH9):c.4563C>T:p.His1521=	coding	Benign
22	36289096	C	A	C36289096A	MYH9	NM_002473.6(MYH9):c.4546G>T:p.Val1516Leu	coding	Pathogenic
22	36289283	C	T	C36289283T	MYH9	NM_002473.5(MYH9):c.4359G>A:p.Glu1453=	coding	Benign/Likely_benign
22	36291976	G	A	G36291976A	MYH9	NM_002473.6(MYH9):c.4344+10C>T	noncoding	Benign/Likely_benign
22	36292060	C	A	C36292060A	MYH9	NM_002473.5(MYH9):c.4270G>T:p.Asp1424Tyr	coding	Pathogenic
22	36292060	C	G	C36292060G	MYH9	NM_002473.5(MYH9):c.4270G>C:p.Asp1424His	coding	Pathogenic
22	36292060	C	T	C36292060T	MYH9	NM_002473.5(MYH9):c.4270G>A:p.Asp1424Asn	coding	Pathogenic
22	36292132	G	A	G36292132A	MYH9	NM_002473.6(MYH9):c.4198C>T:p.Arg1400Trp	coding	Benign/Likely_benign
22	36293871	G	A	G36293871A	MYH9	NM_002473.6(MYH9):c.3838-8C>T	noncoding	Benign
22	36293875	G	A	G36293875A	MYH9	NM_002473.6(MYH9):c.3838-12C>T	noncoding	Benign
22	36294067	G	A	G36294067A	MYH9	NM_002473.5(MYH9):c.3837+25C>T	noncoding	Benign
22	36294074	T	C	T36294074C	MYH9	NM_002473.5(MYH9):c.3837+18A>G	noncoding	Benign
22	36294232	C	T	C36294232T	MYH9	NM_002473.6(MYH9):c.3697G>A:p.Val1233Met	coding	Benign
22	36294284	G	A	G36294284A	MYH9	NM_002473.6(MYH9):c.3645C>T:p.Leu1215=	coding	Benign
22	36294956	C	T	C36294956T	MYH9	NM_002473.5(MYH9):c.3606G>A:p.Ala1202=	coding	Benign/Likely_benign
22	36295068	C	A	C36295068A	MYH9	NM_002473.5(MYH9):c.3494G>T:p.Arg1165Leu	coding	Pathogenic
22	36295069	G	A	G36295069A	MYH9	NM_002473.5(MYH9):c.3493C>T:p.Arg1165Cys	coding	Pathogenic
22	36295432	G	A	G36295432A	MYH9	NM_002473.5(MYH9):c.3485+73C>T	noncoding	Benign
22	36295497	G	A	G36295497A	MYH9	NM_002473.6(MYH9):c.3485+8C>T	noncoding	Benign
22	36295526	G	A	G36295526A	MYH9	NM_002473.5(MYH9):c.3464C>T:p.Thr1155Ile	coding	Pathogenic
22	36295561	A	C	A36295561C	MYH9	NM_002473.6(MYH9):c.3429T>G:p.Ala1143=	coding	Benign
22	36295645	T	C	T36295645C	MYH9	NM_002473.6(MYH9):c.3345A>G:p.Glu1115=	coding	Benign
22	36295670	C	T	C36295670T	MYH9	NM_002473.5(MYH9):c.3320G>A:p.Arg1107Gln	coding	Benign/Likely_benign
22	36296899	C	T	C36296899T	MYH9	NM_002473.6(MYH9):c.3216G>A:p.Ala1072=	coding	Benign/Likely_benign
22	36298908	C	G	C36298908G	MYH9	NM_002473.6(MYH9):c.3100+11G>C	noncoding	Benign
22	36299077	G	C	G36299077C	MYH9	NM_002473.5(MYH9):c.2977-35C>G	noncoding	Benign
22	36300203	A	T	A36300203T	MYH9	NM_002473.5(MYH9):c.2900T>A:p.Val967Glu	coding	Benign
22	36300968	G	A	G36300968A	MYH9	NM_002473.6(MYH9):c.2721C>T:p.Thr907=	coding	Benign/Likely_benign
22	36301054	T	G	T36301054G	MYH9	NM_002473.6(MYH9):c.2635A>C:p.Met879Leu	coding	Benign/Likely_benign
22	36301648	C	T	C36301648T	MYH9	NM_002473.6(MYH9):c.2517G>A:p.Gln839=	coding	Benign/Likely_benign
22	36302619	G	A	G36302619A	MYH9	NM_002473.6(MYH9):c.2448C>T:p.Cys816=	coding	Benign/Likely_benign
22	36304090	G	A	G36304090A	MYH9	NM_002473.6(MYH9):c.2295C>T:p.Ala765=	coding	Benign/Likely_benign
22	36304129	A	G	A36304129G	MYH9	NM_002473.6(MYH9):c.2256T>C:p.Asn752=	coding	Benign
22	36305020	C	A	C36305020A	MYH9	NM_002473.6(MYH9):c.2229+13G>T	noncoding	Benign
22	36305045	C	G	C36305045G	MYH9	NM_002473.6(MYH9):c.2217G>C:p.Ala739=	coding	Benign/Likely_benign
22	36305891	G	T	G36305891T	MYH9	NM_002473.5(MYH9):c.2159+39C>A	noncoding	Benign
22	36305937	G	A	G36305937A	MYH9	NM_002473.5(MYH9):c.2152C>T:p.Arg718Trp	coding	Pathogenic
22	36305975	C	T	C36305975T	MYH9	NM_002473.5(MYH9):c.2114G>A:p.Arg705His	coding	Pathogenic
22	36305985	G	A	G36305985A	MYH9	NM_002473.5(MYH9):c.2104C>T:p.Arg702Cys	coding	Pathogenic
22	36306028	G	A	G36306028A	MYH9	NM_002473.6(MYH9):c.2061C>T:p.Leu687=	coding	Benign/Likely_benign
22	36306056	A	G	A36306056G	MYH9	NM_002473.6(MYH9):c.2038-5T>C	noncoding	Benign
22	36306103	G	A	G36306103A	MYH9	NM_002473.5(MYH9):c.2038-52C>T	noncoding	Benign
22	36309402	G	A	G36309402A	MYH9	NM_002473.6(MYH9):c.1729-6C>T	noncoding	Benign
22	36312002	C	A	C36312002A	MYH9	NM_002473.5(MYH9):c.1728+47G>T	noncoding	Benign
22	36312039	C	T	C36312039T	MYH9	NM_002473.6(MYH9):c.1728+10G>A	noncoding	Benign
22	36312091	C	T	C36312091T	MYH9	NM_002473.6(MYH9):c.1686G>A:p.Leu562=	coding	Benign/Likely_benign
22	36312151	G	A	G36312151A	MYH9	NM_002473.6(MYH9):c.1626C>T:p.Phe542=	coding	Benign
22	36312234	G	A	G36312234A	MYH9	NM_002473.6(MYH9):c.1555-12C>T	noncoding	Benign
22	36314138	T	C	T36314138C	MYH9	NM_002473.6(MYH9):c.1554+7A>G	noncoding	Benign
22	36316655	G	A	G36316655A	MYH9	NM_002473.6(MYH9):c.1242C>T:p.Ile414=	coding	Benign/Likely_benign
22	36318258	C	T	C36318258T	MYH9	NM_002473.6(MYH9):c.1176G>A:p.Pro392=	coding	Benign/Likely_benign
22	36318276	G	A	G36318276A	MYH9	NM_002473.6(MYH9):c.1158C>T:p.Thr386=	coding	Benign/Likely_benign
22	36319521	G	A	G36319521A	MYH9	NM_002473.5(MYH9):c.1108+19C>T	noncoding	Benign
22	36319531	G	A	G36319531A	MYH9	NM_002473.6(MYH9):c.1108+9C>T	noncoding	Benign
22	36319565	G	A	G36319565A	MYH9	NM_002473.6(MYH9):c.1083C>T:p.Asp361=	coding	Benign/Likely_benign
22	36320299	G	A	G36320299A	MYH9	NM_002473.5(MYH9):c.933C>T:p.Pro311=	coding	Benign/Likely_benign
22	36320733	T	C	T36320733C	MYH9	NM_002473.5(MYH9):c.868+65A>G	noncoding	Benign
22	36321743	G	A	G36321743A	MYH9	NM_002473.6(MYH9):c.769+15C>T	noncoding	Benign/Likely_benign
22	36322415	G	A	G36322415A	MYH9	NM_002473.6(MYH9):c.705+14C>T	noncoding	Benign/Likely_benign
22	36322418	G	A	G36322418A	MYH9	NM_002473.6(MYH9):c.705+11C>T	noncoding	Benign/Likely_benign
22	36322519	G	A	G36322519A	MYH9	NM_002473.6(MYH9):c.615C>T:p.Gly205=	coding	Benign/Likely_benign
22	36348919	G	A	G36348919A	MYH9	NM_002473.5(MYH9):c.318C>T:p.Tyr106=	coding	Benign/Likely_benign
22	36348950	G	A	G36348950A	MYH9	NM_002473.5(MYH9):c.287C>T:p.Ser96Leu	coding	Pathogenic
22	36348954	C	T	C36348954T	MYH9	NM_002473.5(MYH9):c.283G>A:p.Ala95Thr	coding	Pathogenic
22	36348958	G	C	G36348958C	MYH9	NM_002473.5(MYH9):c.279C>G:p.Asn93Lys	coding	Pathogenic
22	36348982	G	A	G36348982A	MYH9	NM_002473.6(MYH9):c.255C>T:p.Asp85=	coding	Benign
22	36349072	G	A	G36349072A	MYH9	NM_002473.5(MYH9):c.165C>T:p.Ile55=	coding	Benign/Likely_benign
22	36349101	G	A	G36349101A	MYH9	NM_002473.6(MYH9):c.136C>T:p.Leu46Phe	coding	Benign/Likely_benign
22	36349138	C	G	C36349138G	MYH9	NM_002473.5(MYH9):c.99G>C:p.Trp33Cys	coding	Pathogenic
22	36349219	G	A	G36349219A	MYH9	NM_002473.6(MYH9):c.18C>T:p.Ala6=	coding	Benign
22	36349230	G	C	G36349230C	MYH9	NM_002473.6(MYH9):c.7C>G:p.Gln3Glu	coding	Benign/Likely_benign
22	36349262	G	A	G36349262A	MYH9	NM_002473.5(MYH9):c.-19-7C>T	noncoding	Benign/Likely_benign
22	36476826	C	T	C36476826T	TXN2	NM_012473.4(TXN2):c.294G>A:p.Pro98=	coding	Benign
22	36480767	C	T	C36480767T	TXN2	NM_012473.4(TXN2):c.71G>A:p.Trp24Ter	coding	Pathogenic
22	36480805	C	T	C36480805T	TXN2	NM_012473.4(TXN2):c.33G>A:p.Leu11=	coding	Benign
22	36518920	G	A	G36518920A	EIF3D	NM_003753.4(EIF3D):c.712-10C>T	noncoding	Benign
22	36519398	C	T	C36519398T	EIF3D	NM_003753.4(EIF3D):c.711+7G>A	noncoding	Benign
22	36519417	A	G	A36519417G	EIF3D	NM_003753.4(EIF3D):c.699T>C:p.Pro233=	coding	Benign
22	36525714	G	A	G36525714A	EIF3D	NM_003753.4(EIF3D):c.124-5C>T	noncoding	Benign
22	36762941	G	A	G36762941A	IFT27	NM_001177701.3(IFT27):c.425C>T:p.Ala142Val	coding	Benign
22	36762951	G	A	G36762951A	IFT27	NM_001177701.3(IFT27):c.415C>T:p.Arg139Trp	coding	Benign
22	36763918	C	A	C36763918A	IFT27	NM_001177701.3(IFT27):c.352+1G>T	noncoding	Pathogenic
22	36763972	C	T	C36763972T	IFT27	NM_001177701.3(IFT27):c.299G>A:p.Cys100Tyr	coding	Pathogenic
22	36767370	C	T	C36767370T	IFT27	NM_001177701.3(IFT27):c.115-5G>A	noncoding	Benign
22	36767790	T	C	T36767790C	IFT27	NM_001177701.3(IFT27):c.107A>G:p.Tyr36Cys	coding	Pathogenic
22	36815104	C	T	C36815104T	PVALB	NM_001315532.2(PVALB):c.193G>A:p.Gly65Arg	coding	Benign
22	36815175	G	A	G36815175A	PVALB	NM_001315532.2(PVALB):c.122C>T:p.Ala41Val	coding	Benign
22	36815245	G	T	G36815245T	PVALB	NM_001315532.2(PVALB):c.62-10C>A	noncoding	Benign
22	36861205	T	G	T36861205G	NCF4	NM_000631.5(NCF4):c.32+2T>G	noncoding	Pathogenic
22	36864075	C	T	C36864075T	NCF4	NM_000631.5(NCF4):c.63C>T:p.Ala21=	coding	Benign
22	36864081	G	A	G36864081A	NCF4	NM_000631.5(NCF4):c.69G>A:p.Ser23=	coding	Benign
22	36864973	C	T	C36864973T	NCF4	NM_000631.5(NCF4):c.172C>T:p.Arg58Cys	coding	Benign
22	36865041	T	C	T36865041C	NCF4	NM_000631.5(NCF4):c.240T>C:p.Ser80=	coding	Benign
22	36865055	C	A	C36865055A	NCF4	NM_000631.5(NCF4):c.254C>A:p.Thr85Asn	coding	Benign/Likely_benign
22	36865079	G	A	G36865079A	NCF4	NM_000631.5(NCF4):c.271+7G>A	noncoding	Benign/Likely_benign
22	36867434	G	A	G36867434A	NCF4	NM_000631.5(NCF4):c.314G>A:p.Arg105Gln	coding	Pathogenic
22	36870411	A	G	A36870411G	NCF4	NM_000631.5(NCF4):c.343-4A>G	noncoding	Benign
22	36871659	G	A	G36871659A	NCF4	NM_000631.5(NCF4):c.478G>A:p.Val160Met	coding	Benign/Likely_benign
22	36871725	A	G	A36871725G	NCF4	NM_000631.5(NCF4):c.528+16A>G	noncoding	Benign
22	36871727	G	C	G36871727C	NCF4	NM_000631.5(NCF4):c.528+18G>C	noncoding	Benign
22	36875639	C	A	C36875639A	NCF4	NM_000631.5(NCF4):c.628-14C>A	noncoding	Benign
22	36875730	C	T	C36875730T	NCF4	NM_000631.5(NCF4):c.705C>T:p.Asp235=	coding	Benign
22	36875741	G	A	G36875741A	NCF4	NM_000631.5(NCF4):c.716G>A:p.Trp239Ter	coding	Pathogenic
22	36875760	C	T	C36875760T	NCF4	NM_000631.5(NCF4):c.735C>T:p.Tyr245=	coding	Benign
22	36875833	C	T	C36875833T	NCF4	NM_000631.5(NCF4):c.758+50C>T	coding	Pathogenic
22	36875840	T	C	T36875840C	NCF4	NM_000631.5(NCF4):c.758+57T>C	coding	Benign
22	36877700	G	A	G36877700A	NCF4	NM_000631.5(NCF4):c.897G>A:p.Ser299=	coding	Benign
22	36923251	C	T	C36923251T	CSF2RB	NM_000395.3(CSF2RB):c.84C>T:p.Ile28=	coding	Benign
22	36926059	C	T	C36926059T	CSF2RB	NM_000395.3(CSF2RB):c.273C>T:p.Cys91=	coding	Benign
22	36929791	C	T	C36929791T	CSF2RB	NM_000395.3(CSF2RB):c.702C>T:p.Cys234=	coding	Benign
22	36930401	G	C	G36930401C	CSF2RB	NM_000395.3(CSF2RB):c.745G>C:p.Glu249Gln	coding	Benign
22	36930468	C	T	C36930468T	CSF2RB	NM_000395.3(CSF2RB):c.812C>T:p.Ser271Leu	coding	Pathogenic
22	36930752	G	A	G36930752A	CSF2RB	NM_000395.3(CSF2RB):c.934G>A:p.Asp312Asn	coding	Benign
22	36932871	G	A	G36932871A	CSF2RB	NM_000395.3(CSF2RB):c.1119G>A:p.Glu373=	coding	Benign
22	36933819	T	C	T36933819C	CSF2RB	NM_000395.3(CSF2RB):c.1153-13T>C	noncoding	Benign
22	36933873	C	T	C36933873T	CSF2RB	NM_000395.3(CSF2RB):c.1194C>T:p.Ala398=	coding	Benign
22	36933957	C	T	C36933957T	CSF2RB	NM_000395.3(CSF2RB):c.1278C>T:p.Ser426=	coding	Benign
22	36933987	C	G	C36933987G	CSF2RB	NM_000395.3(CSF2RB):c.1308C>G:p.Thr436=	coding	Benign
22	36935702	C	T	C36935702T	CSF2RB	NM_000395.3(CSF2RB):c.1464+15C>T	noncoding	Benign
22	36937364	T	G	T36937364G	CSF2RB	NM_000395.3(CSF2RB):c.1569-13T>G	noncoding	Benign
22	36937404	C	T	C36937404T	CSF2RB	NM_000395.3(CSF2RB):c.1596C>T:p.Ser532=	coding	Benign
22	36937615	C	A	C36937615A	CSF2RB	NM_000395.3(CSF2RB):c.1807C>A:p.Pro603Thr	coding	Benign
22	36937737	C	T	C36937737T	CSF2RB	NM_000395.3(CSF2RB):c.1929C>T:p.Ala643=	coding	Benign
22	36937752	A	G	A36937752G	CSF2RB	NM_000395.3(CSF2RB):c.1944A>G:p.Pro648=	coding	Benign
22	36937762	G	A	G36937762A	CSF2RB	NM_000395.3(CSF2RB):c.1954G>A:p.Val652Met	coding	Benign
22	36937894	C	T	C36937894T	CSF2RB	NM_000395.3(CSF2RB):c.2086C>T:p.Pro696Ser	coding	Benign
22	36938208	G	A	G36938208A	CSF2RB	NM_000395.3(CSF2RB):c.2400G>A:p.Pro800=	coding	Benign
22	36938238	C	A	C36938238A	CSF2RB	NM_000395.3(CSF2RB):c.2430C>A:p.Pro810=	coding	Benign
22	37051859	G	A	G37051859A	KCTD17	NM_001282684.1(KCTD17):c.120G>A:p.Thr40=	coding	Benign
22	37053217	G	C	G37053217C	KCTD17	NM_001282684.1(KCTD17):c.319+9G>C	noncoding	Benign
22	37057420	G	A	G37057420A	KCTD17	NM_001282684.1(KCTD17):c.434G>A:p.Arg145His	coding	Pathogenic
22	37059324	C	T	C37059324T	KCTD17	NM_001282684.1(KCTD17):c.519C>T:p.Ile173=	coding	Benign
22	37061545	G	A	G37061545A	KCTD17	NM_001282684.1(KCTD17):c.812G>A:p.Arg271His	coding	Benign
22	37062546	C	T	C37062546T	KCTD17	NM_001282684.1(KCTD17):c.918C>T:p.Pro306=	coding	Benign
22	37065500	G	C	G37065500C	TMPRSS6	NM_153609.3(TMPRSS6):c.*580C>G	noncoding	Benign
22	37065534	A	G	A37065534G	TMPRSS6	NM_153609.3(TMPRSS6):c.*546T>C	noncoding	Benign
22	37065577	G	C	G37065577C	TMPRSS6	NM_153609.3(TMPRSS6):c.*503C>G	noncoding	Benign
22	37065994	G	A	G37065994A	TMPRSS6	NM_153609.3(TMPRSS6):c.*86C>T	noncoding	Benign
22	37066133	C	T	C37066133T	TMPRSS6	NM_153609.3(TMPRSS6):c.2383G>A:p.Val795Ile	coding	Benign/Likely_benign
22	37066170	G	A	G37066170A	TMPRSS6	NM_153609.3(TMPRSS6):c.2346C>T:p.Ser782=	coding	Benign
22	37066886	G	A	G37066886A	TMPRSS6	NM_153609.3(TMPRSS6):c.2217C>T:p.Tyr739=	coding	Benign
22	37066896	A	G	A37066896G	TMPRSS6	NM_153609.3(TMPRSS6):c.2207T>C:p.Val736Ala	coding	Benign
22	37066942	G	A	G37066942A	TMPRSS6	NM_153609.3(TMPRSS6):c.2161C>T:p.Gln721Ter	coding	Pathogenic
22	37066949	G	A	G37066949A	TMPRSS6	NM_153609.3(TMPRSS6):c.2154C>T:p.Asn718=	coding	Benign
22	37069072	C	G	C37069072G	TMPRSS6	NM_153609.3(TMPRSS6):c.2140+1G>C	noncoding	Pathogenic
22	37069074	G	A	G37069074A	TMPRSS6	NM_153609.3(TMPRSS6):c.2139C>T:p.Gly713=	coding	Benign
22	37069081	C	A	C37069081A	TMPRSS6	NM_153609.3(TMPRSS6):c.2132G>T:p.Arg711Leu	coding	Benign/Likely_benign
22	37069112	G	A	G37069112A	TMPRSS6	NM_001374504.1(TMPRSS6):c.2074C>T:p.His692Tyr	coding	Benign
22	37070525	G	A	G37070525A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1800C>T:p.Asp600=	coding	Benign
22	37070557	G	A	G37070557A	TMPRSS6	NM_153609.3(TMPRSS6):c.1795C>T:p.Arg599Ter	coding	Pathogenic/Likely_pathogenic
22	37070907	A	G	A37070907G	TMPRSS6	NM_001374504.1(TMPRSS6):c.1672+9T>C	noncoding	Benign/Likely_benign
22	37070952	G	A	G37070952A	TMPRSS6	NM_153609.3(TMPRSS6):c.1663C>T:p.Pro555Ser	coding	Benign
22	37070954	C	T	C37070954T	TMPRSS6	NM_001374504.1(TMPRSS6):c.1634G>A:p.Arg545Gln	coding	Benign
22	37070961	C	T	C37070961T	TMPRSS6	NM_153609.3(TMPRSS6):c.1654G>A:p.Asp552Asn	coding	Benign
22	37073531	C	T	C37073531T	TMPRSS6	NM_153609.3(TMPRSS6):c.1582+1G>A	noncoding	Pathogenic
22	37073550	C	T	C37073550T	TMPRSS6	NM_153609.3(TMPRSS6):c.1564G>A:p.Glu522Lys	coding	Pathogenic
22	37073551	G	A	G37073551A	TMPRSS6	NM_153609.3(TMPRSS6):c.1563C>T:p.Asp521=	coding	Benign
22	37073553	C	T	C37073553T	TMPRSS6	NM_153609.3(TMPRSS6):c.1561G>A:p.Asp521Asn	coding	Pathogenic
22	37074595	G	A	G37074595A	TMPRSS6	NM_153609.3(TMPRSS6):c.1468+15C>T	noncoding	Benign
22	37074598	C	T	C37074598T	TMPRSS6	NM_153609.3(TMPRSS6):c.1468+12G>A	noncoding	Benign
22	37074600	G	A	G37074600A	TMPRSS6	NM_153609.3(TMPRSS6):c.1468+10C>T	noncoding	Benign
22	37075168	G	A	G37075168A	TMPRSS6	NM_153609.3(TMPRSS6):c.1336C>T:p.Arg446Trp	coding	Benign/Likely_benign
22	37075180	C	T	C37075180T	TMPRSS6	NM_153609.3(TMPRSS6):c.1324G>A:p.Gly442Arg	coding	Pathogenic
22	37075250	G	A	G37075250A	TMPRSS6	NM_153609.3(TMPRSS6):c.1254C>T:p.Tyr418=	coding	Benign
22	37084339	A	C	A37084339C	TMPRSS6	NM_153609.3(TMPRSS6):c.1179T>G:p.Tyr393Ter	coding	Pathogenic
22	37084757	C	T	C37084757T	TMPRSS6	NM_153609.3(TMPRSS6):c.1083G>A:p.Ser361=	coding	Benign
22	37084775	G	T	G37084775T	TMPRSS6	NM_153609.3(TMPRSS6):c.1065C>A:p.Tyr355Ter	coding	Pathogenic
22	37089578	G	A	G37089578A	TMPRSS6	NM_153609.3(TMPRSS6):c.863C>T:p.Ser288Leu	coding	Benign
22	37089684	T	C	T37089684C	TMPRSS6	NM_153609.3(TMPRSS6):c.757A>G:p.Lys253Glu	coding	Benign
22	37095916	T	G	T37095916G	TMPRSS6	NM_153609.3(TMPRSS6):c.606A>C:p.Leu202=	coding	Benign
22	37095958	G	A	G37095958A	TMPRSS6	NM_153609.3(TMPRSS6):c.564C>T:p.Ala188=	coding	Benign
22	37095973	G	A	G37095973A	TMPRSS6	NM_001374504.1(TMPRSS6):c.522C>T:p.Val174=	coding	Benign
22	37096662	G	A	G37096662A	TMPRSS6	NM_001374504.1(TMPRSS6):c.390C>T:p.Ser130=	coding	Benign
22	37098414	A	C	A37098414C	TMPRSS6	NM_001374504.1(TMPRSS6):c.336+2T>G	noncoding	Pathogenic
22	37098426	G	T	G37098426T	TMPRSS6	NM_153609.3(TMPRSS6):c.353C>A:p.Ala118Asp	coding	Pathogenic
22	37098545	G	C	G37098545C	TMPRSS6	NM_153609.3(TMPRSS6):c.234C>G:p.Tyr78Ter	coding	Pathogenic
22	37103346	C	T	C37103346T	TMPRSS6	NM_153609.3(TMPRSS6):c.99G>A:p.Pro33=	coding	Benign
22	37103525	G	A	G37103525A	TMPRSS6	NM_153609.3(TMPRSS6):c.15C>T:p.Phe5=	coding	Benign
22	37103652	A	G	A37103652G	TMPRSS6	NM_153609.3(TMPRSS6):c.-113T>C	noncoding	Benign
22	37103659	C	T	C37103659T	TMPRSS6	NM_001289000.2(TMPRSS6):c.-1-241G>A	noncoding	Benign
22	37128348	G	A	G37128348A	IL2RB	NM_000878.5(IL2RB):c.1404C>T:p.Asp468=	coding	Benign
22	37128443	C	T	C37128443T	IL2RB	NM_000878.5(IL2RB):c.1309G>A:p.Gly437Ser	coding	Benign
22	37135335	C	T	C37135335T	IL2RB	NM_000878.5(IL2RB):c.811G>A:p.Gly271Arg	coding	Benign
22	37139219	G	A	G37139219A	IL2RB	NM_000878.5(IL2RB):c.286C>T:p.Gln96Ter	coding	Pathogenic
22	37142468	G	A	G37142468A	IL2RB	NM_000878.5(IL2RB):c.248C>T:p.Ser83Phe	coding	Benign
22	37142481	C	T	C37142481T	IL2RB	NM_000878.5(IL2RB):c.235G>A:p.Val79Met	coding	Benign
22	37143604	C	T	C37143604T	IL2RB	NM_000878.5(IL2RB):c.120G>A:p.Ser40=	coding	Benign
22	37185231	G	A	G37185231A	C1QTNF6	NM_031910.4(C1QTNF6):c.276C>T:p.Ile92=	coding	Benign
22	37185417	T	C	T37185417C	C1QTNF6	NM_031910.4(C1QTNF6):c.90A>G:p.Ala30=	coding	Benign
22	37226751	G	A	G37226751A	RAC2	NM_002872.5(RAC2):c.501C>T:p.Thr167=	coding	Benign
22	37226775	A	G	A37226775G	RAC2	NM_002872.5(RAC2):c.477T>C:p.Ala159=	coding	Benign
22	37231945	T	G	T37231945G	RAC2	NM_002872.5(RAC2):c.275A>C:p.Asn92Thr	coding	Pathogenic
22	37231968	G	A	G37231968A	RAC2	NM_002872.5(RAC2):c.252C>T:p.Leu84=	coding	Benign
22	37232842	C	T	C37232842T	RAC2	NM_002872.5(RAC2):c.184G>A:p.Glu62Lys	coding	Pathogenic/Likely_pathogenic
22	37232857	C	T	C37232857T	RAC2	NM_002872.5(RAC2):c.169G>A:p.Asp57Asn	coding	Pathogenic
22	37241567	A	G	A37241567G	RAC2	NM_002872.5(RAC2):c.107+20T>C	noncoding	Benign
22	37241593	G	T	G37241593T	RAC2	NM_002872.5(RAC2):c.101C>A:p.Pro34His	coding	Pathogenic
22	37241613	G	C	G37241613C	RAC2	NM_002872.5(RAC2):c.81C>G:p.Ala27=	coding	Benign
22	37296051	A	G	A37296051G	CYTH4	NM_013385.5(CYTH4):c.220A>G:p.Met74Val	coding	Benign
22	37297591	C	T	C37297591T	CYTH4	NM_013385.5(CYTH4):c.262C>T:p.Leu88=	coding	Benign
22	37297648	A	C	A37297648C	CYTH4	NM_013385.5(CYTH4):c.319A>C:p.Asn107His	coding	Benign
22	37374750	G	T	G37374750T	ELFN2	NM_052906.5(ELFN2):c.785C>A:p.Ser262Tyr	coding	Benign
22	37375308	T	C	T37375308C	ELFN2	NM_052906.5(ELFN2):c.227A>G:p.Asn76Ser	coding	Benign
22	37491799	G	A	G37491799A	CARD10	NM_014550.4(CARD10):c.2820C>T:p.Ile940=	coding	Benign
22	37504279	T	C	T37504279C	CARD10	NM_014550.4(CARD10):c.1541A>G:p.Lys514Arg	coding	Benign
22	37506267	C	T	C37506267T	CARD10	NM_014550.4(CARD10):c.1308G>A:p.Thr436=	coding	Benign
22	37507871	A	G	A37507871G	CARD10	NM_014550.4(CARD10):c.1149T>C:p.Thr383=	coding	Benign
22	37507876	C	T	C37507876T	CARD10	NM_014550.4(CARD10):c.1144G>A:p.Ala382Thr	coding	Benign
22	37566550	C	T	C37566550T	CDC42EP1	NM_152243.3(CDC42EP1):c.201C>T:p.His67=	coding	Benign
22	37568196	G	A	G37568196A	CDC42EP1	NM_152243.3(CDC42EP1):c.552G>A:p.Glu184=	coding	Benign
22	37568224	T	C	T37568224C	CDC42EP1	NM_152243.3(CDC42EP1):c.580T>C:p.Leu194=	coding	Benign
22	37568568	T	C	T37568568C	CDC42EP1	NM_152243.3(CDC42EP1):c.924T>C:p.Gly308=	coding	Benign
22	37568760	A	G	A37568760G	CDC42EP1	NM_152243.3(CDC42EP1):c.1116A>G:p.Thr372=	coding	Benign
22	37570402	G	A	G37570402A	LGALS2	NM_006498.3(LGALS2):c.260C>T:p.Thr87Ile	coding	Benign
22	37625882	C	T	C37625882T	GGA1	NM_013365.5(GGA1):c.1026C>T:p.Gly342=	coding	Benign
22	37632066	A	G	A37632066G	GGA1	NM_013365.5(GGA1):c.1599A>G:p.Pro533=	coding	Benign
22	37632464	C	T	C37632464T	GGA1	NM_013365.5(GGA1):c.1758C>T:p.Ile586=	coding	Benign
22	37641367	T	C	T37641367C	SH3BP1	NM_018957.5(SH3BP1):c.103-7T>C	noncoding	Benign
22	37641394	G	A	G37641394A	SH3BP1	NM_018957.5(SH3BP1):c.123G>A:p.Pro41=	coding	Benign
22	37688903	T	C	T37688903C	NOL12	NM_024313.3(NOL12):c.292T>C:p.Tyr98His	coding	Benign
22	37701352	C	G	C37701352G	TRIOBP	NM_001039141.3(TRIOBP):c.-14C>G	noncoding	Benign
22	37713220	C	G	C37713220G	TRIOBP	NM_001039141.3(TRIOBP):c.265C>G:p.Pro89Ala	coding	Benign/Likely_benign
22	37713318	C	A	C37713318A	TRIOBP	NM_001039141.3(TRIOBP):c.363C>A:p.Ser121=	coding	Benign/Likely_benign
22	37713346	G	A	G37713346A	TRIOBP	NM_001039141.3(TRIOBP):c.391G>A:p.Gly131Ser	coding	Benign/Likely_benign
22	37715810	C	A	C37715810A	TRIOBP	NM_001039141.3(TRIOBP):c.504C>A:p.Asp168Glu	coding	Benign
22	37723206	G	A	G37723206A	TRIOBP	NM_001039141.3(TRIOBP):c.650G>A:p.Ser217Asn	coding	Benign
22	37723445	C	T	C37723445T	TRIOBP	NM_001039141.3(TRIOBP):c.889C>T:p.Gln297Ter	coding	Pathogenic
22	37723595	C	T	C37723595T	TRIOBP	NM_001039141.3(TRIOBP):c.1039C>T:p.Arg347Ter	coding	Pathogenic
22	37723714	C	T	C37723714T	TRIOBP	NM_001039141.3(TRIOBP):c.1158C>T:p.Asp386=	coding	Benign
22	37723751	C	T	C37723751T	TRIOBP	NM_001039141.3(TRIOBP):c.1195C>T:p.Arg399Ter	coding	Pathogenic
22	37723862	G	A	G37723862A	TRIOBP	NM_001039141.3(TRIOBP):c.1306G>A:p.Asp436Asn	coding	Benign
22	37724003	C	T	C37724003T	TRIOBP	NM_001039141.3(TRIOBP):c.1447C>T:p.Gln483Ter	coding	Pathogenic
22	37724034	G	A	G37724034A	TRIOBP	NM_001039141.3(TRIOBP):c.1478G>A:p.Ser493Asn	coding	Benign/Likely_benign
22	37724296	C	A	C37724296A	TRIOBP	NM_001039141.3(TRIOBP):c.1740C>A:p.Ala580=	coding	Benign
22	37724297	C	T	C37724297T	TRIOBP	NM_001039141.3(TRIOBP):c.1741C>T:p.Gln581Ter	coding	Pathogenic
22	37724535	C	T	C37724535T	TRIOBP	NM_001039141.3(TRIOBP):c.1979C>T:p.Ala660Val	coding	Benign
22	37724918	C	T	C37724918T	TRIOBP	NM_001039141.3(TRIOBP):c.2362C>T:p.Arg788Ter	coding	Pathogenic
22	37725033	C	T	C37725033T	TRIOBP	NM_001039141.3(TRIOBP):c.2477C>T:p.Ser826Leu	coding	Benign
22	37725145	C	A	C37725145A	TRIOBP	NM_001039141.3(TRIOBP):c.2589C>A:p.Asn863Lys	coding	Benign
22	37725524	C	T	C37725524T	TRIOBP	NM_001039141.3(TRIOBP):c.2968C>T:p.Arg990Ter	coding	Pathogenic
22	37725611	G	A	G37725611A	TRIOBP	NM_001039141.3(TRIOBP):c.3055G>A:p.Gly1019Arg	coding	Pathogenic
22	37725630	G	A	G37725630A	TRIOBP	NM_001039141.3(TRIOBP):c.3074G>A:p.Arg1025Gln	coding	Benign
22	37725645	C	G	C37725645G	TRIOBP	NM_001039141.3(TRIOBP):c.3089C>G:p.Pro1030Arg	coding	Benign
22	37725758	C	T	C37725758T	TRIOBP	NM_001039141.3(TRIOBP):c.3202C>T:p.Arg1068Ter	coding	Pathogenic
22	37725788	C	T	C37725788T	TRIOBP	NM_001039141.3(TRIOBP):c.3232C>T:p.Arg1078Cys	coding	Benign/Likely_benign
22	37725905	C	T	C37725905T	TRIOBP	NM_001039141.3(TRIOBP):c.3349C>T:p.Arg1117Ter	coding	Pathogenic
22	37726080	C	A	C37726080A	TRIOBP	NM_001039141.3(TRIOBP):c.3524C>A:p.Ser1175Ter	coding	Pathogenic
22	37726115	T	C	T37726115C	TRIOBP	NM_001039141.3(TRIOBP):c.3559T>C:p.Phe1187Leu	coding	Benign
22	37726441	C	T	C37726441T	TRIOBP	NM_001039141.3(TRIOBP):c.3885C>T:p.Ser1295=	coding	Benign
22	37726455	A	G	A37726455G	TRIOBP	NM_001039141.3(TRIOBP):c.3899A>G:p.His1300Arg	coding	Benign
22	37733304	C	T	C37733304T	TRIOBP	NM_001039141.3(TRIOBP):c.3954C>T:p.Ser1318=	coding	Benign/Likely_benign
22	37733325	G	A	G37733325A	TRIOBP	NM_001039141.3(TRIOBP):c.3975G>A:p.Gln1325=	coding	Benign
22	37734413	T	C	T37734413C	TRIOBP	NM_001039141.3(TRIOBP):c.4077T>C:p.Pro1359=	coding	Benign/Likely_benign
22	37734452	G	T	G37734452T	TRIOBP	NM_001039141.3(TRIOBP):c.4116G>T:p.Glu1372Asp	coding	Benign
22	37734465	T	C	T37734465C	TRIOBP	NM_001039141.3(TRIOBP):c.4129T>C:p.Trp1377Arg	coding	Benign
22	37734501	C	A	C37734501A	TRIOBP	NM_001039141.3(TRIOBP):c.4165C>A:p.Leu1389Ile	coding	Benign/Likely_benign
22	37734514	C	T	C37734514T	TRIOBP	NM_001039141.3(TRIOBP):c.4178C>T:p.Pro1393Leu	coding	Benign/Likely_benign
22	37734627	G	T	G37734627T	TRIOBP	NM_001039141.3(TRIOBP):c.4291G>T:p.Glu1431Ter	coding	Pathogenic
22	37734669	A	G	A37734669G	TRIOBP	NM_001039141.3(TRIOBP):c.4333A>G:p.Arg1445Gly	coding	Benign
22	37734820	A	T	A37734820T	TRIOBP	NM_001039141.3(TRIOBP):c.4484A>T:p.Glu1495Val	coding	Benign
22	37734979	C	T	C37734979T	TRIOBP	NM_001039141.3(TRIOBP):c.4643C>T:p.Pro1548Leu	coding	Benign
22	37735062	C	T	C37735062T	TRIOBP	NM_001039141.3(TRIOBP):c.4726C>T:p.Arg1576Cys	coding	Benign/Likely_benign
22	37735064	T	C	T37735064C	TRIOBP	NM_001039141.3(TRIOBP):c.4728T>C:p.Arg1576=	coding	Benign/Likely_benign
22	37735388	G	T	G37735388T	TRIOBP	NM_001039141.3(TRIOBP):c.5052G>T:p.Thr1684=	coding	Benign/Likely_benign
22	37735394	C	G	C37735394G	TRIOBP	NM_001039141.3(TRIOBP):c.5058C>G:p.Pro1686=	coding	Benign/Likely_benign
22	37754993	A	G	A37754993G	TRIOBP	NM_001039141.3(TRIOBP):c.5487+9A>G	noncoding	Benign
22	37755163	G	A	G37755163A	TRIOBP	NM_001039141.3(TRIOBP):c.5550G>A:p.Val1850=	coding	Benign
22	37755560	C	T	C37755560T	TRIOBP	NM_001039141.3(TRIOBP):c.5588C>T:p.Ala1863Val	coding	Benign/Likely_benign
22	37757689	C	T	C37757689T	TRIOBP	NM_001039141.3(TRIOBP):c.5764C>T:p.Arg1922Trp	coding	Benign/Likely_benign
22	37757692	G	A	G37757692A	TRIOBP	NM_001039141.3(TRIOBP):c.5767G>A:p.Ala1923Thr	coding	Benign
22	37758060	C	T	C37758060T	TRIOBP	NM_001039141.3(TRIOBP):c.6135C>T:p.Pro2045=	coding	Benign/Likely_benign
22	37759212	G	C	G37759212C	TRIOBP	NM_001039141.3(TRIOBP):c.6272G>C:p.Ser2091Thr	coding	Benign
22	37759490	A	G	A37759490G	TRIOBP	NM_001039141.3(TRIOBP):c.6324+226A>G	coding	Benign
22	37765759	G	A	G37765759A	TRIOBP	NM_001039141.3(TRIOBP):c.6414G>A:p.Gln2138=	coding	Benign/Likely_benign
22	37765800	C	T	C37765800T	TRIOBP	NM_001039141.3(TRIOBP):c.6455C>T:p.Thr2152Met	coding	Benign
22	37765827	C	T	C37765827T	TRIOBP	NM_001039141.3(TRIOBP):c.6472+10C>T	noncoding	Benign/Likely_benign
22	37768099	C	T	C37768099T	TRIOBP	NM_001039141.3(TRIOBP):c.6498C>T:p.Tyr2166=	coding	Benign
22	37768172	C	T	C37768172T	TRIOBP	NM_001039141.3(TRIOBP):c.6571C>T:p.His2191Tyr	coding	Benign/Likely_benign
22	37769050	C	T	C37769050T	TRIOBP	NM_001039141.3(TRIOBP):c.6598C>T:p.Arg2200Ter	coding	Pathogenic
22	37769267	G	A	G37769267A	TRIOBP	NM_001039141.3(TRIOBP):c.6741G>A:p.Leu2247=	coding	Benign/Likely_benign
22	37769332	A	G	A37769332G	TRIOBP	NM_001039141.3(TRIOBP):c.6806A>G:p.Asn2269Ser	coding	Benign/Likely_benign
22	37771699	T	C	T37771699C	TRIOBP	NM_001039141.3(TRIOBP):c.6899T>C:p.Val2300Ala	coding	Benign/Likely_benign
22	37772696	G	A	G37772696A	TRIOBP	NM_001039141.3(TRIOBP):c.7032G>A:p.Glu2344=	coding	Benign/Likely_benign
22	37833744	G	A	G37833744A	ANKRD54	NM_138797.4(ANKRD54):c.487C>T:p.Leu163=	coding	Benign
22	37875900	A	G	A37875900G	EIF3L	NM_016091.4(EIF3L):c.966A>G:p.Ala322=	coding	Benign
22	37972784	G	A	G37972784A	SOX10	NM_006941.3(SOX10):c.*711C>T	coding	Benign
22	37972958	C	G	C37972958G	SOX10	NM_006941.3(SOX10):c.*537G>C	coding	Benign
22	37973020	C	T	C37973020T	SOX10	NM_006941.3(SOX10):c.*475G>A	coding	Benign
22	37973468	C	T	C37973468T	SOX10	NM_006941.4(SOX10):c.*27G>A	coding	Benign
22	37973727	G	C	G37973727C	SOX10	NM_006941.3(SOX10):c.1169C>G:p.Ser390Ter	coding	Pathogenic
22	37973767	G	A	G37973767A	SOX10	NM_006941.3(SOX10):c.1129C>T:p.Gln377Ter	coding	Pathogenic
22	37973806	G	A	G37973806A	SOX10	NM_006941.3(SOX10):c.1090C>T:p.Gln364Ter	coding	Pathogenic
22	37973814	G	A	G37973814A	SOX10	NM_006941.4(SOX10):c.1082C>T:p.Ala361Val	coding	Benign
22	37973816	G	A	G37973816A	SOX10	NM_006941.4(SOX10):c.1080C>T:p.Thr360=	coding	Benign
22	37973955	G	T	G37973955T	SOX10	NM_006941.4(SOX10):c.941C>A:p.Ser314Ter	coding	Pathogenic
22	37973957	G	C	G37973957C	SOX10	NM_001301130.2(POLR2F):c.293+6787G>C	coding	Pathogenic
22	37973969	A	G	A37973969G	SOX10	NM_006941.4(SOX10):c.927T>C:p.His309=	coding	Benign
22	37974074	G	A	G37974074A	SOX10	NM_006941.4(SOX10):c.822C>T:p.Gly274=	coding	Benign/Likely_benign
22	37974144	G	T	G37974144T	SOX10	NM_001301130.2(POLR2F):c.293+6974G>T	coding	Pathogenic
22	37974148	G	A	G37974148A	SOX10	NM_001301130.2(POLR2F):c.293+6978G>A	coding	Pathogenic
22	37974200	T	G	T37974200G	SOX10	NM_006941.3(SOX10):c.698-2A>C	noncoding	Pathogenic
22	37977943	G	C	G37977943C	SOX10	NM_001301130.2(POLR2F):c.294-8211G>C	coding	Pathogenic
22	37977964	G	A	G37977964A	SOX10	NM_006941.4(SOX10):c.600C>T:p.Thr200=	coding	Benign
22	37977999	C	A	C37977999A	SOX10	NM_001301130.2(POLR2F):c.294-8155C>A	coding	Pathogenic
22	37978043	T	G	T37978043G	SOX10	NM_001301130.2(POLR2F):c.294-8111T>G	coding	Pathogenic
22	37978050	T	A	T37978050A	SOX10	NM_006941.3(SOX10):c.514A>T:p.Lys172Ter	coding	Pathogenic
22	37978057	C	T	C37978057T	SOX10	NM_006941.3(SOX10):c.507G>A:p.Pro169=	coding	Benign/Likely_benign
22	37978077	G	A	G37978077A	SOX10	NM_006941.3(SOX10):c.487C>T:p.Gln163Ter	coding	Pathogenic
22	37978085	A	G	A37978085G	SOX10	NM_006941.4(SOX10):c.479T>C:p.Leu160Pro	coding	Pathogenic
22	37978094	G	A	G37978094A	SOX10	NM_001301130.2(POLR2F):c.294-8060G>A	coding	Pathogenic
22	37978136	C	T	C37978136T	SOX10	NM_006941.3(SOX10):c.429-1G>A	coding	Pathogenic
22	37978147	T	C	T37978147C	SOX10	NM_006941.3(SOX10):c.429-12A>G	noncoding	Benign
22	37983347	G	C	G37983347C	SOX10	NM_006941.4(SOX10):c.428+10C>G	noncoding	Benign/Likely_benign
22	37983359	C	A	C37983359A	SOX10	NM_006941.4(SOX10):c.426G>T:p.Trp142Cys	coding	Pathogenic
22	37983359	C	T	C37983359T	SOX10	NM_006941.4(SOX10):c.426G>A:p.Trp142Ter	coding	Pathogenic
22	37983360	C	G	C37983360G	SOX10	NM_006941.4(SOX10):c.425G>C:p.Trp142Ser	coding	Pathogenic
22	37983360	C	T	C37983360T	SOX10	NM_006941.3(SOX10):c.425G>A:p.Trp142Ter	coding	Pathogenic
22	37983381	C	G	C37983381G	SOX10	NM_001301130.2(POLR2F):c.294-2773C>G	coding	Pathogenic
22	37983412	G	A	G37983412A	SOX10	NM_006941.3(SOX10):c.373C>T:p.Gln125Ter	coding	Pathogenic
22	37983511	C	G	C37983511G	SOX10	NM_006941.4(SOX10):c.274G>C:p.Val92Leu	coding	Benign/Likely_benign
22	37983536	G	A	G37983536A	SOX10	NM_006941.4(SOX10):c.249C>T:p.Tyr83=	coding	Benign/Likely_benign
22	37983536	G	C	G37983536C	SOX10	NM_001301130.2(POLR2F):c.294-2618G>C	coding	Pathogenic
22	37983553	G	A	G37983553A	SOX10	NM_006941.3(SOX10):c.232C>T:p.Gln78Ter	coding	Pathogenic
22	37983658	G	A	G37983658A	SOX10	NM_006941.3(SOX10):c.127C>T:p.Arg43Ter	coding	Pathogenic
22	37983663	C	A	C37983663A	SOX10	NM_006941.4(SOX10):c.122G>T:p.Gly41Val	coding	Benign/Likely_benign
22	37983696	G	T	G37983696T	SOX10	NM_006941.4(SOX10):c.89C>A:p.Ser30Ter	coding	Pathogenic
22	37983767	G	A	G37983767A	SOX10	NM_006941.4(SOX10):c.18C>T:p.Asp6=	coding	Benign
22	37983783	A	C	A37983783C	SOX10	NM_001301130.2(POLR2F):c.294-2371A>C	coding	Pathogenic
22	38069027	G	A	G38069027A	PICK1	NM_012407.4(PICK1):c.350-6G>A	noncoding	Benign
22	38074931	C	T	C38074931T	PICK1	NM_012407.4(PICK1):c.1047C>T:p.Tyr349=	coding	Benign
22	38078399	C	T	C38078399T	SLC16A8	NM_013356.3(SLC16A8):c.1504G>A:p.Glu502Lys	coding	Benign
22	38082672	G	A	G38082672A	SLC16A8	NM_013356.3(SLC16A8):c.202C>T:p.Leu68Phe	coding	Benign
22	38111811	G	T	G38111811T	PLA2G6	NM_003560.4(PLA2G6):c.*350C>A	noncoding	Benign
22	38111860	C	T	C38111860T	PLA2G6	NM_003560.4(PLA2G6):c.*301G>A	noncoding	Benign
22	38112242	G	A	G38112242A	PLA2G6	NM_003560.4(PLA2G6):c.2340C>T:p.Asn780=	coding	Benign/Likely_benign
22	38112503	C	T	C38112503T	PLA2G6	NM_003560.4(PLA2G6):c.2276+1G>A	noncoding	Pathogenic
22	38112541	G	A	G38112541A	PLA2G6	NM_003560.4(PLA2G6):c.2239C>T:p.Arg747Trp	coding	Pathogenic/Likely_pathogenic
22	38112547	G	A	G38112547A	PLA2G6	NM_003560.4(PLA2G6):c.2233C>T:p.Arg745Trp	coding	Pathogenic
22	38112558	C	T	C38112558T	PLA2G6	NM_003560.4(PLA2G6):c.2222G>A:p.Arg741Gln	coding	Pathogenic/Likely_pathogenic
22	38112559	G	A	G38112559A	PLA2G6	NM_003560.4(PLA2G6):c.2221C>T:p.Arg741Trp	coding	Pathogenic
22	38113591	G	A	G38113591A	PLA2G6	NM_003560.4(PLA2G6):c.2098C>T:p.Gln700Ter	coding	Pathogenic
22	38113656	T	C	T38113656C	PLA2G6	NM_003560.4(PLA2G6):c.2035-2A>G	noncoding	Pathogenic
22	38115658	G	A	G38115658A	PLA2G6	NM_003560.4(PLA2G6):c.1903C>T:p.Arg635Ter	coding	Pathogenic
22	38115667	G	A	G38115667A	PLA2G6	NM_003560.4(PLA2G6):c.1894C>T:p.Arg632Trp	coding	Pathogenic
22	38115682	C	G	C38115682G	PLA2G6	NM_003560.4(PLA2G6):c.1880-1G>C	coding	Pathogenic
22	38116155	C	T	C38116155T	PLA2G6	NM_003560.4(PLA2G6):c.1799G>A:p.Arg600Gln	coding	Pathogenic/Likely_pathogenic
22	38116182	C	T	C38116182T	PLA2G6	NM_003560.4(PLA2G6):c.1772G>A:p.Arg591Gln	coding	Pathogenic
22	38116200	G	A	G38116200A	PLA2G6	NM_003560.4(PLA2G6):c.1754C>T:p.Thr585Ile	coding	Pathogenic
22	38116212	C	G	C38116212G	PLA2G6	NM_003560.4(PLA2G6):c.1743-1G>C	coding	Pathogenic
22	38120747	G	A	G38120747A	PLA2G6	NM_003560.4(PLA2G6):c.1742+12C>T	noncoding	Benign
22	38120802	C	T	C38120802T	PLA2G6	NM_003560.4(PLA2G6):c.1699G>A:p.Glu567Lys	coding	Pathogenic
22	38120867	T	G	T38120867G	PLA2G6	NM_003560.4(PLA2G6):c.1634A>C:p.Lys545Thr	coding	Pathogenic
22	38120874	G	A	G38120874A	PLA2G6	NM_003560.4(PLA2G6):c.1627C>T:p.Arg543Cys	coding	Pathogenic
22	38120888	C	T	C38120888T	PLA2G6	NM_003560.4(PLA2G6):c.1613G>A:p.Arg538His	coding	Pathogenic/Likely_pathogenic
22	38120889	G	A	G38120889A	PLA2G6	NM_003560.4(PLA2G6):c.1612C>T:p.Arg538Cys	coding	Pathogenic
22	38120911	T	G	T38120911G	PLA2G6	NM_003560.4(PLA2G6):c.1592-2A>C	noncoding	Pathogenic
22	38123185	C	T	C38123185T	PLA2G6	NM_003560.4(PLA2G6):c.1501G>A:p.Glu501Lys	coding	Pathogenic
22	38123244	A	T	A38123244T	PLA2G6	NM_003560.4(PLA2G6):c.1442T>A:p.Leu481Gln	coding	Pathogenic
22	38126370	C	T	C38126370T	PLA2G6	NM_003560.4(PLA2G6):c.1427+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	38126444	G	A	G38126444A	PLA2G6	NM_003560.4(PLA2G6):c.1354C>T:p.Gln452Ter	coding	Pathogenic
22	38126451	T	C	T38126451C	PLA2G6	NM_003560.4(PLA2G6):c.1349-2A>G	noncoding	Pathogenic
22	38128431	C	T	C38128431T	PLA2G6	NM_003560.4(PLA2G6):c.1187-1G>A	coding	Pathogenic
22	38129523	C	T	C38129523T	PLA2G6	NM_003560.4(PLA2G6):c.1117G>A:p.Gly373Arg	coding	Pathogenic/Likely_pathogenic
22	38129554	G	A	G38129554A	PLA2G6	NM_003560.4(PLA2G6):c.1086C>T:p.Asn362=	coding	Benign
22	38132831	C	T	C38132831T	PLA2G6	NM_003560.4(PLA2G6):c.1077G>A:p.Ser359=	coding	Pathogenic
22	38132847	A	G	A38132847G	PLA2G6	NM_003560.4(PLA2G6):c.1061T>C:p.Leu354Pro	coding	Pathogenic
22	38132881	C	T	C38132881T	PLA2G6	NM_003560.4(PLA2G6):c.1027G>A:p.Ala343Thr	coding	Benign
22	38132917	C	A	C38132917A	PLA2G6	NM_003560.4(PLA2G6):c.991G>T:p.Asp331Tyr	coding	Pathogenic
22	38132918	G	A	G38132918A	PLA2G6	NM_003560.4(PLA2G6):c.990C>T:p.Phe330=	coding	Benign/Likely_benign
22	38132922	C	T	C38132922T	PLA2G6	NM_003560.4(PLA2G6):c.986G>A:p.Arg329His	coding	Pathogenic/Likely_pathogenic
22	38132936	C	T	C38132936T	PLA2G6	NM_003560.4(PLA2G6):c.972G>A:p.Ala324=	coding	Benign/Likely_benign
22	38132951	C	T	C38132951T	PLA2G6	NM_003560.4(PLA2G6):c.957G>A:p.Thr319=	coding	Benign
22	38132979	A	T	A38132979T	PLA2G6	NM_003560.4(PLA2G6):c.929T>A:p.Val310Glu	coding	Pathogenic
22	38135061	A	C	A38135061C	PLA2G6	NM_003560.4(PLA2G6):c.821T>G:p.Met274Arg	coding	Pathogenic
22	38140106	G	A	G38140106A	PLA2G6	NM_003560.4(PLA2G6):c.673C>T:p.His225Tyr	coding	Pathogenic/Likely_pathogenic
22	38140136	G	A	G38140136A	PLA2G6	NM_003560.4(PLA2G6):c.643C>T:p.Gln215Ter	coding	Pathogenic
22	38143197	G	A	G38143197A	PLA2G6	NM_003560.4(PLA2G6):c.517C>T:p.Gln173Ter	coding	Pathogenic
22	38145647	G	T	G38145647T	PLA2G6	NM_003560.4(PLA2G6):c.216C>A:p.Phe72Leu	coding	Pathogenic
22	38169219	G	A	G38169219A	PLA2G6	NM_003560.4(PLA2G6):c.208C>T:p.Arg70Ter	coding	Pathogenic
22	38169240	T	C	T38169240C	PLA2G6	NM_003560.4(PLA2G6):c.187A>G:p.Arg63Gly	coding	Benign
22	38169255	C	T	C38169255T	PLA2G6	NM_003560.4(PLA2G6):c.172G>A:p.Val58Ile	coding	Benign
22	38169263	C	T	C38169263T	PLA2G6	NM_003560.4(PLA2G6):c.164G>A:p.Trp55Ter	coding	Pathogenic
22	38169318	G	A	G38169318A	PLA2G6	NM_003560.4(PLA2G6):c.109C>T:p.Arg37Ter	coding	Pathogenic
22	38169340	C	T	C38169340T	PLA2G6	NM_003560.4(PLA2G6):c.87G>A:p.Val29=	coding	Benign
22	38169388	G	A	G38169388A	PLA2G6	NM_003560.4(PLA2G6):c.39C>T:p.Gly13=	coding	Benign/Likely_benign
22	38169424	C	A	C38169424A	PLA2G6	NM_003560.4(PLA2G6):c.3G>T:p.Met1Ile	coding	Pathogenic
22	38181748	G	A	G38181748A	PLA2G6	NM_003560.4(PLA2G6):c.-130C>T	noncoding	Benign
22	38294256	G	T	G38294256T	CSNK1E	NM_152221.3(CSNK1E):c.1079-8C>A	noncoding	Benign
22	38298785	C	T	C38298785T	CSNK1E	NM_152221.3(CSNK1E):c.885+1G>A	noncoding	Pathogenic
22	38300896	G	A	G38300896A	CSNK1E	NM_152221.3(CSNK1E):c.393C>T:p.Pro131=	coding	Benign
22	38302851	G	A	G38302851A	CSNK1E	NM_152221.3(CSNK1E):c.336+10C>T	noncoding	Benign
22	38481522	A	C	A38481522C	KDELR3	NM_006855.4(KDELR3):c.604+58A>C	coding	Benign
22	38486022	C	T	C38486022T	DDX17	NM_006386.5(DDX17):c.2103G>A:p.Pro701=	coding	Benign
22	38538601	T	C	T38538601C	DMC1	NM_007068.4(DMC1):c.598A>G:p.Met200Val	coding	Benign
22	38689429	C	A	C38689429A	JOSD1	NM_014876.7(JOSD1):c.186-5G>T	noncoding	Benign
22	38738212	G	A	G38738212A	SUN2	NM_015374.3(SUN2):c.2001C>T:p.Tyr667=	coding	Benign
22	38738638	G	A	G38738638A	SUN2	NM_015374.3(SUN2):c.1896C>T:p.Ala632=	coding	Benign
22	38738912	G	A	G38738912A	SUN2	NM_015374.3(SUN2):c.1740C>T:p.Pro580=	coding	Benign
22	38738918	G	A	G38738918A	SUN2	NM_015374.3(SUN2):c.1734C>T:p.Gly578=	coding	Benign
22	38738951	G	A	G38738951A	SUN2	NM_015374.3(SUN2):c.1701C>T:p.Tyr567=	coding	Benign
22	38739928	G	A	G38739928A	SUN2	NM_015374.3(SUN2):c.1372C>T:p.Pro458Ser	coding	Benign
22	38740267	G	A	G38740267A	SUN2	NM_015374.3(SUN2):c.1356C>T:p.Asp452=	coding	Benign
22	38740278	C	T	C38740278T	SUN2	NM_015374.3(SUN2):c.1345G>A:p.Val449Met	coding	Benign
22	38740321	C	T	C38740321T	SUN2	NM_015374.3(SUN2):c.1302G>A:p.Ser434=	coding	Benign
22	38741508	C	T	C38741508T	SUN2	NM_015374.3(SUN2):c.1132G>A:p.Val378Ile	coding	Benign
22	38742327	G	A	G38742327A	SUN2	NM_015374.3(SUN2):c.1042C>T:p.Arg348Cys	coding	Benign
22	38742394	G	A	G38742394A	SUN2	NM_015374.3(SUN2):c.975C>T:p.His325=	coding	Benign
22	38748742	G	A	G38748742A	SUN2	NM_015374.3(SUN2):c.656C>T:p.Pro219Leu	coding	Benign
22	38749759	C	T	C38749759T	SUN2	NM_015374.3(SUN2):c.614+7G>A	noncoding	Benign
22	38749760	G	A	G38749760A	SUN2	NM_015374.3(SUN2):c.614+6C>T	noncoding	Benign
22	38750260	G	A	G38750260A	SUN2	NM_015374.3(SUN2):c.485C>T:p.Ala162Val	coding	Benign
22	38750274	G	A	G38750274A	SUN2	NM_015374.3(SUN2):c.471C>T:p.Ser157=	coding	Benign
22	38751220	G	A	G38751220A	SUN2	NM_015374.3(SUN2):c.276C>T:p.Asp92=	coding	Benign
22	38751341	C	T	C38751341T	SUN2	NM_015374.3(SUN2):c.155G>A:p.Arg52His	coding	Benign
22	38752532	T	C	T38752532C	SUN2	NM_015374.3(SUN2):c.97A>G:p.Thr33Ala	coding	Benign
22	38780924	A	G	A38780924G	DNAL4	NM_005740.3(DNAL4):c.153+2T>C	noncoding	Pathogenic
22	38782696	A	G	A38782696G	DNAL4	NM_005740.3(DNAL4):c.36T>C:p.Asp12=	coding	Benign
22	38871510	C	T	C38871510T	CBX6	NM_014292.5(CBX6):c.216G>A:p.Arg72=	coding	Benign
22	38984126	C	T	C38984126T	APOBEC3B	NM_004900.5(APOBEC3B):c.69C>T:p.Asn23=	coding	Benign
22	38989505	T	C	T38989505C	APOBEC3B	NM_004900.5(APOBEC3B):c.618T>C:p.Pro206=	coding	Benign
22	39018377	G	T	G39018377T	APOBEC3C	NM_014508.3(APOBEC3C):c.563G>T:p.Ser188Ile	coding	Benign
22	39049431	G	A	G39049431A	APOBEC3F	NM_145298.6(APOBEC3F):c.573G>A:p.Pro191=	coding	Benign
22	39052270	A	G	A39052270G	APOBEC3F	NM_145298.6(APOBEC3F):c.920A>G:p.Tyr307Cys	coding	Benign
22	39052610	A	G	A39052610G	APOBEC3F	NM_145298.6(APOBEC3F):c.1037A>G:p.Asn346Ser	coding	Benign
22	39101407	C	T	C39101407T	APOBEC3H	NM_181773.5(APOBEC3H):c.321C>T:p.Phe107=	coding	Benign
22	39225723	C	G	C39225723G	PDGFB	NM_002608.4(PDGFB):c.726G>C:p.Ter242Tyr	coding	Pathogenic
22	39225792	G	T	G39225792T	PDGFB	NM_002608.4(PDGFB):c.657C>A:p.Pro219=	coding	Benign
22	39225814	G	A	G39225814A	PDGFB	NM_002608.4(PDGFB):c.635C>T:p.Thr212Met	coding	Benign
22	39231633	G	A	G39231633A	PDGFB	NM_002608.4(PDGFB):c.445C>T:p.Arg149Ter	coding	Pathogenic
22	39231645	G	A	G39231645A	PDGFB	NM_002608.4(PDGFB):c.433C>T:p.Gln145Ter	coding	Pathogenic
22	39231722	A	G	A39231722G	PDGFB	NM_002608.4(PDGFB):c.356T>C:p.Leu119Pro	coding	Pathogenic
22	39231816	T	C	T39231816C	PDGFB	NM_002608.4(PDGFB):c.262A>G:p.Ile88Val	coding	Benign
22	39235763	G	T	G39235763T	PDGFB	NM_002608.4(PDGFB):c.160+15C>A	noncoding	Benign
22	39235781	C	T	C39235781T	PDGFB	NM_002608.4(PDGFB):c.157G>A:p.Gly53Arg	coding	Benign
22	39243929	C	A	C39243929A	PDGFB	NM_002608.4(PDGFB):c.35G>T:p.Cys12Phe	coding	Benign
22	39243961	C	T	C39243961T	PDGFB	NM_002608.4(PDGFB):c.3G>A:p.Met1Ile	coding	Pathogenic
22	39243962	A	C	A39243962C	PDGFB	NM_002608.4(PDGFB):c.2T>G:p.Met1Arg	coding	Pathogenic
22	39416786	C	T	C39416786T	TAB1	NM_006116.3(TAB1):c.325-5C>T	noncoding	Benign
22	39426846	C	T	C39426846T	TAB1	NM_006116.3(TAB1):c.1065C>T:p.His355=	coding	Benign
22	39488274	C	T	C39488274T	MGAT3	NM_002409.5(MGAT3):c.927C>T:p.Pro309=	coding	Benign
22	39488352	C	G	C39488352G	MGAT3	NM_002409.5(MGAT3):c.1005C>G:p.Gly335=	coding	Benign
22	39511970	C	T	C39511970T	MIEF1	NM_001304564.1(MIEF1):c.266C>T:p.Thr89Met	coding	Benign
22	39513717	C	T	C39513717T	MIEF1	NM_001304564.1(MIEF1):c.786C>T:p.Val262=	coding	Benign
22	39513842	G	A	G39513842A	MIEF1	NM_001304564.1(MIEF1):c.911G>A:p.Arg304His	coding	Benign
22	39521452	G	A	G39521452A	ATF4	NM_001675.4(ATF4):c.7G>A:p.Glu3Lys	coding	Benign
22	39521786	C	T	C39521786T	ATF4	NM_001675.4(ATF4):c.240C>T:p.Ser80=	coding	Benign
22	39521939	T	C	T39521939C	ATF4	NM_001675.4(ATF4):c.393T>C:p.Asn131=	coding	Benign
22	39521950	C	T	C39521950T	ATF4	NM_001675.4(ATF4):c.404C>T:p.Pro135Leu	coding	Benign
22	39522044	C	T	C39522044T	ATF4	NM_001675.4(ATF4):c.498C>T:p.Ser166=	coding	Benign
22	39522146	C	T	C39522146T	ATF4	NM_001675.4(ATF4):c.600C>T:p.Tyr200=	coding	Benign
22	39522147	G	A	G39522147A	ATF4	NM_001675.4(ATF4):c.601G>A:p.Val201Ile	coding	Benign
22	39522318	C	G	C39522318G	ATF4	NM_001675.4(ATF4):c.772C>G:p.Pro258Ala	coding	Benign
22	39522512	G	C	G39522512C	ATF4	NM_001675.4(ATF4):c.966G>C:p.Glu322Asp	coding	Benign
22	39522517	C	T	C39522517T	ATF4	NM_001675.4(ATF4):c.971C>T:p.Ala324Val	coding	Benign
22	39619316	C	T	C39619316T	CACNA1I	NM_021096.4(CACNA1I):c.489C>T:p.Val163=	coding	Benign
22	39640903	G	A	G39640903A	CACNA1I	NM_021096.4(CACNA1I):c.777G>A:p.Pro259=	coding	Benign/Likely_benign
22	39640945	C	T	C39640945T	CACNA1I	NM_021096.4(CACNA1I):c.819C>T:p.Gly273=	coding	Benign
22	39647862	C	T	C39647862T	CACNA1I	NM_021096.4(CACNA1I):c.1503C>T:p.Leu501=	coding	Benign
22	39649532	G	A	G39649532A	CACNA1I	NM_021096.4(CACNA1I):c.1599G>A:p.Ala533=	coding	Benign
22	39649799	C	T	C39649799T	CACNA1I	NM_021096.4(CACNA1I):c.1866C>T:p.Cys622=	coding	Benign
22	39659777	C	T	C39659777T	CACNA1I	NM_021096.4(CACNA1I):c.2529C>T:p.Val843=	coding	Benign
22	39660349	C	T	C39660349T	CACNA1I	NM_021096.4(CACNA1I):c.2610C>T:p.Asp870=	coding	Benign
22	39664882	C	T	C39664882T	CACNA1I	NM_021096.4(CACNA1I):c.3810C>T:p.Val1270=	coding	Benign
22	39670112	C	T	C39670112T	CACNA1I	NM_021096.4(CACNA1I):c.4269C>T:p.Leu1423=	coding	Benign
22	39670915	C	T	C39670915T	CACNA1I	NM_021096.4(CACNA1I):c.4500C>T:p.Asn1500=	coding	Benign
22	39679102	C	T	C39679102T	CACNA1I	NM_021096.4(CACNA1I):c.5056-5C>T	noncoding	Benign
22	39679319	T	C	T39679319C	CACNA1I	NM_021096.4(CACNA1I):c.5268T>C:p.His1756=	coding	Benign
22	39968035	C	T	C39968035T	GRAP2	NM_004810.4(GRAP2):c.460-7C>T	noncoding	Benign
22	39968048	C	T	C39968048T	GRAP2	NM_004810.4(GRAP2):c.466C>T:p.Arg156Trp	coding	Benign
22	39968118	G	A	G39968118A	GRAP2	NM_004810.4(GRAP2):c.536G>A:p.Arg179Gln	coding	Benign
22	39969459	G	A	G39969459A	GRAP2	NM_004810.4(GRAP2):c.739G>A:p.Gly247Ser	coding	Benign
22	39969521	C	G	C39969521G	GRAP2	NM_004810.4(GRAP2):c.801C>G:p.Leu267=	coding	Benign
22	40265145	T	C	T40265145C	TNRC6B	NM_001162501.2(TNRC6B):c.915T>C:p.Asn305=	coding	Benign
22	40266367	C	T	C40266367T	TNRC6B	NM_001162501.2(TNRC6B):c.2137C>T:p.Arg713Ter	coding	Pathogenic
22	40266936	T	C	T40266936C	TNRC6B	NM_001162501.2(TNRC6B):c.2706T>C:p.Tyr902=	coding	Benign
22	40270237	C	T	C40270237T	TNRC6B	NM_001162501.2(TNRC6B):c.2922C>T:p.Gly974=	coding	Benign
22	40273478	G	A	G40273478A	TNRC6B	NM_001162501.2(TNRC6B):c.3019G>A:p.Ala1007Thr	coding	Benign
22	40300557	C	T	C40300557T	TNRC6B	NM_001162501.2(TNRC6B):c.3811C>T:p.Gln1271Ter	coding	Pathogenic
22	40310974	C	T	C40310974T	TNRC6B	NM_001162501.2(TNRC6B):c.4416C>T:p.Ser1472=	coding	Benign
22	40346413	C	T	C40346413T	ADSL	NC_000022.11:g.40346413C>T	noncoding	Benign
22	40346563	C	T	C40346563T	ADSL	NM_000026.4(ADSL):c.5C>T:p.Ala2Val	coding	Pathogenic
22	40346585	G	T	G40346585T	ADSL	NM_000026.4(ADSL):c.27G>T:p.Ser9=	coding	Benign/Likely_benign
22	40346682	C	T	C40346682T	ADSL	NM_000026.4(ADSL):c.124C>T:p.Leu42=	coding	Benign
22	40346693	G	A	G40346693A	ADSL	NM_000026.4(ADSL):c.135G>A:p.Trp45Ter	coding	Pathogenic
22	40346827	A	G	A40346827G	ADSL	NM_000026.4(ADSL):c.153+116A>G	noncoding	Benign
22	40346917	C	T	C40346917T	ADSL	NM_000026.4(ADSL):c.153+206C>T	noncoding	Benign
22	40346985	T	C	T40346985C	ADSL	NM_000026.4(ADSL):c.153+274T>C	noncoding	Benign
22	40349894	C	T	C40349894T	ADSL	NM_000026.4(ADSL):c.216C>T:p.Ile72=	coding	Benign
22	40349931	C	T	C40349931T	ADSL	NM_000026.4(ADSL):c.253C>T:p.Arg85Ter	coding	Pathogenic/Likely_pathogenic
22	40349946	G	A	G40349946A	ADSL	NM_000026.4(ADSL):c.268G>A:p.Ala90Thr	coding	Pathogenic
22	40349976	C	G	C40349976G	ADSL	NM_000026.4(ADSL):c.298C>G:p.Pro100Ala	coding	Pathogenic
22	40350018	T	C	T40350018C	ADSL	NM_000026.4(ADSL):c.340T>C:p.Tyr114His	coding	Pathogenic
22	40353069	G	A	G40353069A	ADSL	NM_000026.4(ADSL):c.358-4G>A	noncoding	Benign
22	40354285	A	T	A40354285T	ADSL	NM_000026.4(ADSL):c.440A>T:p.Lys147Met	coding	Benign
22	40358931	C	T	C40358931T	ADSL	NM_000026.4(ADSL):c.550C>T:p.Gln184Ter	coding	Pathogenic
22	40358948	C	T	C40358948T	ADSL	NM_000026.4(ADSL):c.567C>T:p.Val189=	coding	Benign/Likely_benign
22	40358949	C	T	C40358949T	ADSL	NM_000026.4(ADSL):c.568C>T:p.Arg190Ter	coding	Pathogenic
22	40359030	C	G	C40359030G	ADSL	NM_000026.4(ADSL):c.649C>G:p.His217Asp	coding	Benign/Likely_benign
22	40359279	T	C	T40359279C	ADSL	NM_000026.4(ADSL):c.674T>C:p.Met225Thr	coding	Pathogenic
22	40360425	C	T	C40360425T	ADSL	NM_000026.4(ADSL):c.725C>T:p.Thr242Ile	coding	Pathogenic
22	40361224	A	C	A40361224C	ADSL	NM_000026.4(ADSL):c.793-49A>C	noncoding	Benign
22	40361333	C	T	C40361333T	ADSL	NM_000026.4(ADSL):c.853C>T:p.Gln285Ter	coding	Pathogenic
22	40361532	C	T	C40361532T	ADSL	NM_000026.4(ADSL):c.907C>T:p.Arg303Cys	coding	Pathogenic
22	40361602	G	A	G40361602A	ADSL	NM_000026.4(ADSL):c.977G>A:p.Trp326Ter	coding	Pathogenic
22	40361634	C	T	C40361634T	ADSL	NM_000026.4(ADSL):c.1009C>T:p.Arg337Ter	coding	Pathogenic
22	40361653	A	G	A40361653G	ADSL	NM_000026.4(ADSL):c.1010+18A>G	noncoding	Benign
22	40363304	A	G	A40363304G	ADSL	NM_000026.4(ADSL):c.1101+233A>G	noncoding	Benign
22	40364302	G	C	G40364302C	ADSL	NM_000026.4(ADSL):c.1128G>C:p.Glu376Asp	coding	Pathogenic
22	40364361	G	A	G40364361A	ADSL	NM_000026.4(ADSL):c.1187G>A:p.Arg396His	coding	Pathogenic/Likely_pathogenic
22	40364964	C	T	C40364964T	ADSL	NM_000026.4(ADSL):c.1276C>T:p.Arg426Cys	coding	Pathogenic
22	40364965	G	A	G40364965A	ADSL	NM_000026.4(ADSL):c.1277G>A:p.Arg426His	coding	Pathogenic
22	40365000	T	C	T40365000C	ADSL	NM_000026.4(ADSL):c.1312T>C:p.Ser438Pro	coding	Pathogenic
22	40365027	T	C	T40365027C	ADSL	NM_000026.4(ADSL):c.1339T>C:p.Ser447Pro	coding	Pathogenic
22	40365037	C	G	C40365037G	ADSL	NM_000026.4(ADSL):c.1349C>G:p.Thr450Ser	coding	Pathogenic
22	40401643	T	C	T40401643C	SGSM3	NM_015705.6(SGSM3):c.58T>C:p.Trp20Arg	coding	Benign
22	40405203	C	T	C40405203T	SGSM3	NM_015705.6(SGSM3):c.537C>T:p.Ile179=	coding	Benign
22	40405783	G	C	G40405783C	SGSM3	NM_015705.6(SGSM3):c.753G>C:p.Leu251=	coding	Benign
22	40407037	G	A	G40407037A	SGSM3	NM_015705.6(SGSM3):c.1206G>A:p.Gln402=	coding	Benign
22	40408408	C	T	C40408408T	SGSM3	NM_015705.6(SGSM3):c.1761C>T:p.His587=	coding	Benign
22	40408928	C	A	C40408928A	SGSM3	NM_015705.6(SGSM3):c.1903-5C>A	noncoding	Benign
22	40411432	G	A	G40411432A	MRTFA	NM_020831.6(MRTFA):c.3054C>T:p.Leu1018=	coding	Benign
22	40411795	G	A	G40411795A	MRTFA	NM_020831.6(MRTFA):c.2691C>T:p.Leu897=	coding	Benign
22	40417391	T	A	T40417391A	MRTFA	NM_020831.6(MRTFA):c.2467A>T:p.Lys823Ter	coding	Pathogenic
22	40418538	G	A	G40418538A	MRTFA	NM_020831.6(MRTFA):c.2200C>T:p.Pro734Ser	coding	Benign
22	40418984	G	A	G40418984A	MRTFA	NM_020831.6(MRTFA):c.1754C>T:p.Thr585Met	coding	Benign
22	40419116	A	C	A40419116C	MRTFA	NM_020831.6(MRTFA):c.1622T>G:p.Val541Gly	coding	Benign
22	40420951	G	A	G40420951A	MRTFA	NM_020831.6(MRTFA):c.1077C>T:p.Tyr359=	coding	Benign
22	40681544	C	T	C40681544T	MCHR1	NM_005297.3(MCHR1):c.885C>T:p.Ala295=	coding	Benign
22	40827202	T	C	T40827202C	ST13	NM_003932.5(ST13):c.875A>G:p.Asn292Ser	coding	Benign
22	40857159	C	T	C40857159T	XPNPEP3	NM_022098.4(XPNPEP3):c.-23C>T	noncoding	Benign
22	40869045	A	G	A40869045G	XPNPEP3	NM_022098.4(XPNPEP3):c.111A>G:p.Pro37=	coding	Benign
22	40886304	C	T	C40886304T	XPNPEP3	NM_022098.4(XPNPEP3):c.590-9C>T	noncoding	Benign
22	40914230	T	C	T40914230C	XPNPEP3	NM_022098.4(XPNPEP3):c.970-9T>C	noncoding	Benign
22	40914339	G	A	G40914339A	XPNPEP3	NM_022098.4(XPNPEP3):c.1055+15G>A	noncoding	Benign
22	40922324	C	T	C40922324T	XPNPEP3	NM_022098.4(XPNPEP3):c.1056-9C>T	noncoding	Benign
22	40924482	G	T	G40924482T	XPNPEP3	NM_022098.4(XPNPEP3):c.1357G>T:p.Gly453Cys	coding	Pathogenic
22	40926902	C	T	C40926902T	XPNPEP3	NM_022098.4(XPNPEP3):c.*467C>T	noncoding	Benign
22	40929046	G	T	G40929046T	XPNPEP3	NM_022098.4(XPNPEP3):c.*2611G>T	noncoding	Benign
22	40929064	G	A	G40929064A	XPNPEP3	NM_022098.4(XPNPEP3):c.*2629G>A	noncoding	Benign
22	40929572	C	G	C40929572G	XPNPEP3	NM_022098.4(XPNPEP3):c.*3137C>G	noncoding	Benign
22	40929786	C	T	C40929786T	XPNPEP3	NM_022098.4(XPNPEP3):c.*3351C>T	noncoding	Benign
22	40929801	C	T	C40929801T	XPNPEP3	NM_022098.4(XPNPEP3):c.*3366C>T	noncoding	Benign
22	40931137	G	A	G40931137A	XPNPEP3	NM_022098.4(XPNPEP3):c.*4702G>A	noncoding	Benign
22	40932078	C	G	C40932078G	XPNPEP3	NM_022098.4(XPNPEP3):c.*5643C>G	noncoding	Benign
22	40932490	A	C	A40932490C	XPNPEP3	NM_022098.4(XPNPEP3):c.*6055A>C	noncoding	Benign
22	40932636	A	T	A40932636T	XPNPEP3	NM_022098.4(XPNPEP3):c.*6201A>T	noncoding	Benign
22	41117171	T	C	T41117171C	EP300	NM_001429.4(EP300):c.95-16T>C	noncoding	Benign
22	41117348	C	T	C41117348T	EP300	NM_001429.4(EP300):c.256C>T:p.Arg86Ter	coding	Pathogenic
22	41117411	C	T	C41117411T	EP300	NM_001429.4(EP300):c.319C>T:p.Gln107Ter	coding	Pathogenic
22	41117416	C	T	C41117416T	EP300	NM_001429.4(EP300):c.324C>T:p.Ala108=	coding	Benign/Likely_benign
22	41117676	C	A	C41117676A	EP300	NM_001429.4(EP300):c.584C>A:p.Ser195Ter	coding	Pathogenic
22	41117723	G	A	G41117723A	EP300	NM_001429.4(EP300):c.631G>A:p.Gly211Ser	coding	Benign
22	41117770	C	G	C41117770G	EP300	NM_001429.4(EP300):c.678C>G:p.Gly226=	coding	Benign
22	41125886	A	G	A41125886G	EP300	NM_001429.4(EP300):c.752A>G:p.Asn251Ser	coding	Benign
22	41125999	A	G	A41125999G	EP300	NM_001429.4(EP300):c.865A>G:p.Met289Val	coding	Benign/Likely_benign
22	41127522	C	T	C41127522T	EP300	NM_001429.4(EP300):c.942C>T:p.Gly314=	coding	Benign
22	41127532	C	G	C41127532G	EP300	NM_001429.4(EP300):c.952C>G:p.Pro318Ala	coding	Benign
22	41127646	C	T	C41127646T	EP300	NM_001429.4(EP300):c.1066C>T:p.Gln356Ter	coding	Pathogenic
22	41127684	C	T	C41127684T	EP300	NM_001429.4(EP300):c.1104C>T:p.His368=	coding	Benign
22	41127755	G	C	G41127755C	EP300	NM_001429.4(EP300):c.1168+7G>C	noncoding	Benign
22	41127766	G	A	G41127766A	EP300	NM_001429.4(EP300):c.1168+18G>A	noncoding	Benign
22	41131380	T	C	T41131380C	EP300	NM_001429.4(EP300):c.1283-8T>C	noncoding	Benign
22	41131624	A	G	A41131624G	EP300	NM_001429.4(EP300):c.1519A>G:p.Ser507Gly	coding	Benign
22	41137716	A	C	A41137716C	EP300	NM_001429.4(EP300):c.1686A>C:p.Pro562=	coding	Benign
22	41137768	C	T	C41137768T	EP300	NM_001429.4(EP300):c.1738C>T:p.Arg580Ter	coding	Pathogenic/Likely_pathogenic
22	41140161	G	C	G41140161C	EP300	NM_001429.4(EP300):c.1782G>C:p.Thr594=	coding	Benign/Likely_benign
22	41140266	C	G	C41140266G	EP300	NM_001429.4(EP300):c.1878+9C>G	noncoding	Benign/Likely_benign
22	41141111	C	T	C41141111T	EP300	NM_001429.4(EP300):c.1942C>T:p.Arg648Ter	coding	Pathogenic
22	41141126	C	T	C41141126T	EP300	NM_001429.4(EP300):c.1957C>T:p.Gln653Ter	coding	Pathogenic
22	41141230	G	T	G41141230T	EP300	NM_001429.4(EP300):c.2053+8G>T	noncoding	Benign
22	41146749	A	G	A41146749G	EP300	NM_001429.4(EP300):c.2064A>G:p.Leu688=	coding	Benign/Likely_benign
22	41146776	T	G	T41146776G	EP300	NM_001429.4(EP300):c.2091T>G:p.Ser697Arg	coding	Benign/Likely_benign
22	41146834	T	A	T41146834A	EP300	NM_001429.4(EP300):c.2131+18T>A	noncoding	Benign
22	41147945	C	T	C41147945T	EP300	NM_001429.4(EP300):c.2240C>T:p.Pro747Leu	coding	Benign/Likely_benign
22	41149130	A	G	A41149130G	EP300	NM_001429.4(EP300):c.2334A>G:p.Thr778=	coding	Benign
22	41149746	T	C	T41149746C	EP300	NM_001429.4(EP300):c.2380-15T>C	noncoding	Benign
22	41149880	G	A	G41149880A	EP300	NM_001429.4(EP300):c.2499G>A:p.Ser833=	coding	Benign
22	41149949	A	G	A41149949G	EP300	NM_001429.4(EP300):c.2568A>G:p.Ala856=	coding	Benign
22	41149953	A	G	A41149953G	EP300	NM_001429.4(EP300):c.2572A>G:p.Thr858Ala	coding	Benign
22	41149957	T	C	T41149957C	EP300	NM_001429.4(EP300):c.2576T>C:p.Ile859Thr	coding	Benign
22	41150125	G	A	G41150125A	EP300	NM_001429.4(EP300):c.2744G>A:p.Arg915His	coding	Benign
22	41150154	C	A	C41150154A	EP300	NM_001429.4(EP300):c.2773C>A:p.Pro925Thr	coding	Benign/Likely_benign
22	41151870	C	G	C41151870G	EP300	NM_001429.4(EP300):c.2855C>G:p.Ser952Ter	coding	Pathogenic
22	41151940	A	G	A41151940G	EP300	NM_001429.4(EP300):c.2925A>G:p.Glu975=	coding	Benign
22	41151998	G	T	G41151998T	EP300	NM_001429.4(EP300):c.2983G>T:p.Glu995Ter	coding	Pathogenic
22	41152004	A	G	A41152004G	EP300	NM_001429.4(EP300):c.2989A>G:p.Ile997Val	coding	Benign
22	41152238	C	G	C41152238G	EP300	NM_001429.4(EP300):c.3030C>G:p.Thr1010=	coding	Benign
22	41152238	C	T	C41152238T	EP300	NM_001429.4(EP300):c.3030C>T:p.Thr1010=	coding	Benign
22	41152271	T	C	T41152271C	EP300	NM_001429.4(EP300):c.3063T>C:p.Thr1021=	coding	Benign/Likely_benign
22	41154986	T	C	T41154986C	EP300	NM_001429.4(EP300):c.3143-9T>C	noncoding	Benign
22	41155015	C	T	C41155015T	EP300	NM_001429.4(EP300):c.3163C>T:p.Arg1055Ter	coding	Pathogenic
22	41155018	C	T	C41155018T	EP300	NM_001429.4(EP300):c.3166C>T:p.Gln1056Ter	coding	Pathogenic
22	41155035	T	A	T41155035A	EP300	NM_001429.4(EP300):c.3183T>A:p.Thr1061=	coding	Benign
22	41157167	A	G	A41157167G	EP300	NM_001429.4(EP300):c.3262-2A>G	noncoding	Pathogenic/Likely_pathogenic
22	41157255	G	A	G41157255A	EP300	NM_001429.4(EP300):c.3348G>A:p.Gln1116=	coding	Benign
22	41157261	C	T	C41157261T	EP300	NM_001429.4(EP300):c.3354C>T:p.Val1118=	coding	Benign
22	41157333	C	T	C41157333T	EP300	NM_001429.4(EP300):c.3426C>T:p.Cys1142=	coding	Benign
22	41157379	C	T	C41157379T	EP300	NM_001429.4(EP300):c.3472C>T:p.Gln1158Ter	coding	Pathogenic
22	41158411	G	T	G41158411T	EP300	NM_001429.4(EP300):c.3502-1G>T	noncoding	Pathogenic
22	41158447	C	A	C41158447A	EP300	NM_001429.4(EP300):c.3537C>A:p.Gly1179=	coding	Benign
22	41162784	G	C	G41162784C	EP300	NM_001429.4(EP300):c.3728+5G>C	noncoding	Pathogenic
22	41164133	A	G	A41164133G	EP300	NM_001429.4(EP300):c.3806+3A>G	noncoding	Benign
22	41166633	C	T	C41166633T	EP300	NM_001429.4(EP300):c.3841C>T:p.Arg1281Ter	coding	Pathogenic
22	41166649	A	G	A41166649G	EP300	NM_001429.3(EP300):c.3857A>G	coding	Pathogenic
22	41168508	C	T	C41168508T	EP300	NM_001429.4(EP300):c.3934C>T:p.Arg1312Ter	coding	Pathogenic
22	41168704	C	A	C41168704A	EP300	NM_001429.4(EP300):c.4026-17C>A	noncoding	Benign
22	41168712	A	G	A41168712G	EP300	NM_001429.4(EP300):c.4026-9A>G	noncoding	Pathogenic
22	41168714	T	C	T41168714C	EP300	NM_001429.4(EP300):c.4026-7T>C	noncoding	Benign
22	41168719	A	G	A41168719G	EP300	NM_001429.4(EP300):c.4026-2A>G	noncoding	Pathogenic
22	41168760	C	A	C41168760A	EP300	NM_001429.4(EP300):c.4065C>A:p.Tyr1355Ter	coding	Pathogenic
22	41168761	C	T	C41168761T	EP300	NM_001429.4(EP300):c.4066C>T:p.Arg1356Ter	coding	Pathogenic
22	41170430	A	C	A41170430C	EP300	NM_001429.4(EP300):c.4311A>C:p.Ala1437=	coding	Benign
22	41170482	C	T	C41170482T	EP300	NM_001429.4(EP300):c.4363C>T:p.Gln1455Ter	coding	Pathogenic
22	41170509	C	T	C41170509T	EP300	NM_001429.4(EP300):c.4390C>T:p.Gln1464Ter	coding	Pathogenic
22	41170591	C	T	C41170591T	EP300	NM_001429.4(EP300):c.4452+20C>T	noncoding	Benign
22	41172530	T	A	T41172530A	EP300	NM_001429.4(EP300):c.4484T>A:p.Leu1495Ter	coding	Pathogenic
22	41172549	G	A	G41172549A	EP300	NM_001429.4(EP300):c.4503G>A:p.Leu1501=	coding	Benign
22	41172557	T	G	T41172557G	EP300	NM_001429.4(EP300):c.4511T>G:p.Phe1504Cys	coding	Pathogenic
22	41172631	C	T	C41172631T	EP300	NM_001429.4(EP300):c.4585C>T:p.Arg1529Ter	coding	Pathogenic
22	41172645	C	G	C41172645G	EP300	NM_001429.4(EP300):c.4599C>G:p.Thr1533=	coding	Benign
22	41173605	C	T	C41173605T	EP300	NM_001429.4(EP300):c.4618-18C>T	noncoding	Benign
22	41173768	T	C	T41173768C	EP300	NM_001429.4(EP300):c.4763T>C:p.Met1588Thr	coding	Pathogenic/Likely_pathogenic
22	41176250	T	G	T41176250G	EP300	NM_001429.4(EP300):c.4783T>G:p.Phe1595Val	coding	Pathogenic/Likely_pathogenic
22	41176400	C	T	C41176400T	EP300	NM_001429.4(EP300):c.4933C>T:p.Arg1645Ter	coding	Pathogenic
22	41176537	C	T	C41176537T	EP300	NM_001429.4(EP300):c.5061+9C>T	noncoding	Benign
22	41176858	G	C	G41176858C	EP300	NM_001429.4(EP300):c.5147G>C:p.Ser1716Thr	coding	Benign/Likely_benign
22	41176970	C	T	C41176970T	EP300	NM_001429.4(EP300):c.5259C>T:p.Cys1753=	coding	Benign
22	41176982	C	T	C41176982T	EP300	NM_001429.4(EP300):c.5271C>T:p.Ser1757=	coding	Benign
22	41177057	C	T	C41177057T	EP300	NM_001429.4(EP300):c.5346C>T:p.Cys1782=	coding	Benign
22	41177182	A	C	A41177182C	EP300	NM_001429.4(EP300):c.5471A>C:p.Gln1824Pro	coding	Pathogenic
22	41177309	G	A	G41177309A	EP300	NM_001429.4(EP300):c.5598G>A:p.Pro1866=	coding	Benign
22	41177420	C	T	C41177420T	EP300	NM_001429.4(EP300):c.5709C>T:p.Gly1903=	coding	Benign
22	41177525	G	A	G41177525A	EP300	NM_001429.4(EP300):c.5814G>A:p.Thr1938=	coding	Benign
22	41177921	G	A	G41177921A	EP300	NM_001429.4(EP300):c.6210G>A:p.Val2070=	coding	Benign
22	41178083	C	T	C41178083T	EP300	NM_001429.4(EP300):c.6372C>T:p.Val2124=	coding	Benign
22	41178192	A	G	A41178192G	EP300	NM_001429.4(EP300):c.6481A>G:p.Met2161Val	coding	Benign/Likely_benign
22	41178347	G	A	G41178347A	EP300	NM_001429.4(EP300):c.6636G>A:p.Gln2212=	coding	Benign/Likely_benign
22	41178373	C	A	C41178373A	EP300	NM_001429.4(EP300):c.6662C>A:p.Pro2221Gln	coding	Pathogenic
22	41178379	A	C	A41178379C	EP300	NM_001429.4(EP300):c.6668A>C:p.Gln2223Pro	coding	Benign
22	41178386	G	A	G41178386A	EP300	NM_001429.4(EP300):c.6675G>A:p.Gln2225=	coding	Benign
22	41178440	C	T	C41178440T	EP300	NM_001429.4(EP300):c.6729C>T:p.Gly2243=	coding	Benign/Likely_benign
22	41178662	G	A	G41178662A	EP300	NM_001429.4(EP300):c.6951G>A:p.Arg2317=	coding	Benign
22	41178680	C	G	C41178680G	EP300	NM_001429.4(EP300):c.6969C>G:p.Pro2323=	coding	Benign/Likely_benign
22	41178955	A	G	A41178955G	EP300	NM_001429.4(EP300):c.7244A>G:p.Ter2415Trp	coding	Pathogenic
22	41209772	G	C	G41209772C	L3MBTL2	NM_031488.5(L3MBTL2):c.101G>C:p.Arg34Pro	coding	Benign
22	41220774	C	T	C41220774T	L3MBTL2	NM_031488.5(L3MBTL2):c.759C>T:p.Asp253=	coding	Benign
22	41224134	C	T	C41224134T	L3MBTL2	NM_031488.5(L3MBTL2):c.1057C>T:p.Leu353=	coding	Benign
22	41254367	G	C	G41254367C	RANGAP1	NM_002883.4(RANGAP1):c.1201C>G:p.Arg401Gly	coding	Benign
22	41256246	C	T	C41256246T	RANGAP1	NM_002883.4(RANGAP1):c.933G>A:p.Leu311=	coding	Benign
22	41436557	G	A	G41436557A	TOB2	NM_016272.4(TOB2):c.789C>T:p.Asn263=	coding	Benign
22	41469180	C	T	C41469180T	ACO2	NM_001098.3(ACO2):c.34C>T:p.Gln12Ter	coding	Pathogenic
22	41499773	A	G	A41499773G	ACO2	NM_001098.3(ACO2):c.84A>G:p.Gln28=	coding	Benign/Likely_benign
22	41499809	C	T	C41499809T	ACO2	NM_001098.3(ACO2):c.120C>T:p.Asn40=	coding	Benign/Likely_benign
22	41507809	A	C	A41507809C	ACO2	NM_001098.3(ACO2):c.192A>C:p.Thr64=	coding	Benign
22	41507848	C	T	C41507848T	ACO2	NM_001098.3(ACO2):c.231C>T:p.Pro77=	coding	Benign
22	41507867	C	T	C41507867T	ACO2	NM_001098.3(ACO2):c.250C>T:p.Arg84Ter	coding	Pathogenic
22	41507953	C	G	C41507953G	ACO2	NM_001098.3(ACO2):c.336C>G:p.Ser112Arg	coding	Pathogenic
22	41508068	T	C	T41508068C	ACO2	NM_001098.3(ACO2):c.432+19T>C	noncoding	Benign
22	41511929	C	T	C41511929T	ACO2	NM_001098.3(ACO2):c.486C>T:p.Gly162=	coding	Benign
22	41515521	C	T	C41515521T	ACO2	NM_001098.3(ACO2):c.670C>T:p.Leu224=	coding	Benign
22	41515536	G	T	G41515536T	ACO2	NM_001098.3(ACO2):c.684+1G>T	coding	Pathogenic
22	41515858	G	A	G41515858A	ACO2	NM_001098.3(ACO2):c.776G>A:p.Gly259Asp	coding	Pathogenic
22	41517624	C	T	C41517624T	ACO2	NM_001098.3(ACO2):c.933C>T:p.Gly311=	coding	Benign
22	41517840	A	G	A41517840G	ACO2	NM_001098.3(ACO2):c.940+209A>G	noncoding	Benign
22	41518430	A	C	A41518430C	ACO2	NM_001098.3(ACO2):c.941-51A>C	noncoding	Benign
22	41518589	C	T	C41518589T	ACO2	NM_001098.3(ACO2):c.1032+17C>T	noncoding	Benign
22	41519997	C	G	C41519997G	ACO2	NM_001098.3(ACO2):c.1033-174C>G	noncoding	Benign
22	41522931	T	G	T41522931G	ACO2	NM_001098.3(ACO2):c.1240T>G:p.Phe414Val	coding	Pathogenic
22	41524971	G	A	G41524971A	ACO2	NM_001098.3(ACO2):c.1605+3G>A	noncoding	Benign
22	41524975	G	A	G41524975A	ACO2	NM_001098.3(ACO2):c.1605+7G>A	noncoding	Benign/Likely_benign
22	41524980	C	T	C41524980T	ACO2	NM_001098.3(ACO2):c.1605+12C>T	noncoding	Benign
22	41525661	A	G	A41525661G	ACO2	NM_001098.3(ACO2):c.1761+313A>G	noncoding	Benign
22	41526287	A	G	A41526287G	ACO2	NM_001098.3(ACO2):c.1787A>G:p.His596Arg	coding	Pathogenic
22	41527275	G	A	G41527275A	ACO2	NM_001098.3(ACO2):c.1954-13G>A	coding	Benign
22	41527276	C	T	C41527276T	ACO2	NM_001098.3(ACO2):c.1954-12C>T	coding	Benign
22	41527314	C	T	C41527314T	ACO2	NM_001098.3(ACO2):c.1980C>T:p.Ile660=	coding	Benign
22	41527315	G	A	G41527315A	ACO2	NM_001098.3(ACO2):c.1981G>A:p.Gly661Arg	coding	Pathogenic
22	41527640	G	A	G41527640A	ACO2	NM_001098.3(ACO2):c.2086+220G>A	coding	Benign
22	41527647	T	C	T41527647C	ACO2	NM_001098.3(ACO2):c.2086+227T>C	coding	Benign
22	41527941	C	T	C41527941T	ACO2	NM_001098.3(ACO2):c.2127C>T:p.Phe709=	coding	Benign/Likely_benign
22	41528022	G	C	G41528022C	ACO2	NM_001098.3(ACO2):c.2208G>C:p.Lys736Asn	coding	Pathogenic
22	41647092	G	A	G41647092A	XRCC6	NM_001469.5(XRCC6):c.960+10G>A	noncoding	Benign
22	41699599	G	A	G41699599A	MEI1	NM_152513.4(MEI1):c.61G>A:p.Ala21Thr	coding	Benign
22	41714045	C	T	C41714045T	MEI1	NM_152513.4(MEI1):c.393C>T:p.Ile131=	coding	Benign
22	41732339	G	C	G41732339C	MEI1	NM_152513.4(MEI1):c.1191G>C:p.Leu397=	coding	Benign
22	41732345	G	A	G41732345A	MEI1	NM_152513.4(MEI1):c.1196+1G>A	coding	Pathogenic
22	41758382	G	C	G41758382C	MEI1	NM_152513.4(MEI1):c.1969G>C:p.Glu657Gln	coding	Benign
22	41770720	G	A	G41770720A	MEI1	NM_152513.4(MEI1):c.2303G>A:p.Gly768Asp	coding	Benign
22	41778775	A	G	A41778775G	MEI1	NM_152513.4(MEI1):c.2778A>G:p.Gln926=	coding	Benign
22	41808892	T	C	T41808892C	CCDC134	NM_024821.4(CCDC134):c.2T>C:p.Met1Thr	coding	Pathogenic
22	41866943	T	C	T41866943C	SREBF2	NM_004599.4(SREBF2):c.201T>C:p.Ser67=	coding	Benign
22	41867108	C	A	C41867108A	SREBF2	NM_004599.4(SREBF2):c.366C>A:p.Pro122=	coding	Benign
22	41868771	G	A	G41868771A	SREBF2	NM_004599.4(SREBF2):c.699G>A:p.Ala233=	coding	Benign
22	41875359	G	A	G41875359A	SREBF2	NM_004599.4(SREBF2):c.1112G>A:p.Arg371Lys	coding	Benign
22	41880821	G	A	G41880821A	SREBF2	NM_004599.4(SREBF2):c.1867G>A:p.Val623Met	coding	Benign
22	41893295	C	G	C41893295G	SREBF2	NM_004599.4(SREBF2):c.2377+10C>G	noncoding	Benign
22	41904874	T	C	T41904874C	SREBF2	NM_004599.4(SREBF2):c.3105T>C:p.His1035=	coding	Benign
22	41925247	A	G	A41925247G	TNFRSF13C	NM_052945.3(TNFRSF13C):c.*120T>C	noncoding	Benign
22	41926186	G	A	G41926186A	TNFRSF13C	NM_052945.3(TNFRSF13C):c.282C>T:p.Val94=	coding	Benign/Likely_benign
22	41926239	G	A	G41926239A	TNFRSF13C	NM_052945.3(TNFRSF13C):c.229C>T:p.Leu77=	coding	Benign
22	41926276	G	A	G41926276A	TNFRSF13C	NM_052945.3(TNFRSF13C):c.192C>T:p.Gly64=	coding	Benign/Likely_benign
22	41981711	C	T	C41981711T	SEPTIN3	NM_145733.3(SEPTIN3):c.77C>T:p.Ala26Val	coding	Benign
22	42058350	G	A	G42058350A	NAGA	NM_000262.3(NAGA):c.*1929C>T	noncoding	Benign
22	42058465	G	A	G42058465A	NAGA	NM_000262.3(NAGA):c.*1814C>T	noncoding	Benign
22	42058583	G	A	G42058583A	NAGA	NM_000262.3(NAGA):c.*1696C>T	noncoding	Benign
22	42058946	A	G	A42058946G	NAGA	NM_000262.3(NAGA):c.*1333T>C	noncoding	Benign
22	42059176	A	G	A42059176G	NAGA	NM_000262.3(NAGA):c.*1103T>C	noncoding	Benign
22	42059244	C	T	C42059244T	NAGA	NM_000262.3(NAGA):c.*1035G>A	noncoding	Benign
22	42060109	C	T	C42060109T	NAGA	NM_000262.3(NAGA):c.*170G>A	noncoding	Benign
22	42060118	A	G	A42060118G	NAGA	NM_000262.3(NAGA):c.*161T>C	noncoding	Benign
22	42060136	G	A	G42060136A	NAGA	NM_000262.3(NAGA):c.*143C>T	noncoding	Benign
22	42060267	T	G	T42060267G	NAGA	NM_000262.3(NAGA):c.*12A>C	noncoding	Benign
22	42061040	G	A	G42061040A	NAGA	NM_000262.3(NAGA):c.985C>T:p.Arg329Trp	coding	Pathogenic
22	42062823	G	C	G42062823C	NAGA	NM_000262.3(NAGA):c.957+4C>G	noncoding	Benign
22	42063031	G	T	G42063031T	NAGA	NM_000262.3(NAGA):c.760-7C>A	noncoding	Benign
22	42065914	G	A	G42065914A	NAGA	NM_000262.3(NAGA):c.598-15C>T	noncoding	Benign
22	42066730	C	A	C42066730A	NAGA	NM_000262.3(NAGA):c.577G>T:p.Glu193Ter	coding	Pathogenic
22	42067172	C	T	C42067172T	NAGA	NM_000262.3(NAGA):c.443G>A:p.Trp148Ter	coding	Pathogenic
22	42067362	C	T	C42067362T	NAGA	NM_000262.3(NAGA):c.325-72G>A	noncoding	Benign
22	42067685	T	C	T42067685C	NAGA	NM_000262.3(NAGA):c.324+80A>G	noncoding	Benign
22	42067810	C	T	C42067810T	NAGA	NM_000262.3(NAGA):c.279G>A:p.Pro93=	coding	Benign
22	42068566	G	A	G42068566A	NAGA	NM_000262.3(NAGA):c.25C>T:p.Leu9=	coding	Benign/Likely_benign
22	42070505	C	G	C42070505G	NAGA	NM_000262.3(NAGA):c.-208G>C	noncoding	Benign
22	42070901	C	T	C42070901T	NAGA	NC_000022.11:g.42070901C>T	noncoding	Benign
22	42070946	C	T	C42070946T	NAGA	NC_000022.11:g.42070946C>T	noncoding	Benign
22	42070976	A	T	A42070976T	NAGA	NC_000022.11:g.42070976A>T	noncoding	Benign
22	42086305	C	A	C42086305A	NDUFA6	NM_002490.6(NDUFA6):c.265G>T:p.Glu89Ter	coding	Pathogenic
22	42087124	C	G	C42087124G	NDUFA6	NM_002490.6(NDUFA6):c.191G>C:p.Arg64Pro	coding	Pathogenic
22	42090742	C	T	C42090742T	NDUFA6	NM_002490.6(NDUFA6):c.3G>A:p.Met1Ile	coding	Pathogenic
22	42127941	G	A	G42127941A	CYP2D6	NM_000106.6(CYP2D6):c.886C>T:p.Arg296Cys	coding	Benign
22	42168711	G	T	G42168711T	TCF20	NM_005650.3(TCF20):c.5825C>A:p.Pro1942His	coding	Benign
22	42179633	G	A	G42179633A	TCF20	NM_005650.3(TCF20):c.5725C>T:p.His1909Tyr	coding	Pathogenic/Likely_pathogenic
22	42210119	A	C	A42210119C	TCF20	NM_001378418.1(TCF20):c.5187T>G:p.Tyr1729Ter	coding	Pathogenic
22	42210520	G	A	G42210520A	TCF20	NM_005650.3(TCF20):c.4786C>T:p.Arg1596Ter	coding	Pathogenic
22	42210532	G	A	G42210532A	TCF20	NM_005650.3(TCF20):c.4774C>T:p.Gln1592Ter	coding	Pathogenic
22	42210636	G	A	G42210636A	TCF20	NM_005650.3(TCF20):c.4670C>T:p.Pro1557Leu	coding	Benign
22	42210899	T	C	T42210899C	TCF20	NM_005650.3(TCF20):c.4407A>G:p.Ser1469=	coding	Benign
22	42211332	C	T	C42211332T	TCF20	NM_005650.3(TCF20):c.3974G>A:p.Ser1325Asn	coding	Benign
22	42211811	C	T	C42211811T	TCF20	NM_005650.3(TCF20):c.3495G>A:p.Met1165Ile	coding	Benign
22	42212423	G	C	G42212423C	TCF20	NM_005650.3(TCF20):c.2883C>G:p.Tyr961Ter	coding	Pathogenic
22	42212509	A	G	A42212509G	TCF20	NM_005650.3(TCF20):c.2797T>C:p.Phe933Leu	coding	Benign
22	42212645	G	A	G42212645A	TCF20	NM_005650.3(TCF20):c.2661C>T:p.His887=	coding	Benign
22	42212712	G	C	G42212712C	TCF20	NM_005650.3(TCF20):c.2594C>G:p.Ser865Ter	coding	Pathogenic
22	42213082	G	A	G42213082A	TCF20	NM_005650.3(TCF20):c.2224C>T:p.Arg742Ter	coding	Pathogenic
22	42213106	C	A	C42213106A	TCF20	NM_001378418.1(TCF20):c.2200G>T:p.Gly734Ter	coding	Pathogenic
22	42213151	G	A	G42213151A	TCF20	NM_005650.3(TCF20):c.2155C>T:p.Arg719Ter	coding	Pathogenic
22	42213346	G	A	G42213346A	TCF20	NM_005650.3(TCF20):c.1960C>T:p.Gln654Ter	coding	Pathogenic
22	42213839	G	A	G42213839A	TCF20	NM_005650.3(TCF20):c.1467C>T:p.Pro489=	coding	Benign
22	42214057	G	A	G42214057A	TCF20	NM_005650.4(TCF20):c.1249C>T:p.Gln417Ter	coding	Pathogenic
22	42214250	A	G	A42214250G	TCF20	NM_005650.3(TCF20):c.1056T>C:p.Val352=	coding	Benign
22	42214351	G	A	G42214351A	TCF20	NM_005650.3(TCF20):c.955C>T:p.Gln319Ter	coding	Pathogenic
22	42214609	G	A	G42214609A	TCF20	NM_005650.3(TCF20):c.697C>T:p.Gln233Ter	coding	Pathogenic
22	42214865	G	A	G42214865A	TCF20	NM_005650.3(TCF20):c.441C>T:p.Gly147=	coding	Benign
22	42214952	A	G	A42214952G	TCF20	NM_005650.3(TCF20):c.354T>C:p.Tyr118=	coding	Benign
22	42215102	C	T	C42215102T	TCF20	NM_005650.3(TCF20):c.204G>A:p.Ala68=	coding	Benign
22	42385181	G	A	G42385181A	NFAM1	NM_145912.8(NFAM1):c.793C>T:p.Leu265=	coding	Benign
22	42385192	C	G	C42385192G	NFAM1	NM_145912.8(NFAM1):c.782G>C:p.Gly261Ala	coding	Benign
22	42409438	G	C	G42409438C	NFAM1	NM_145912.8(NFAM1):c.561C>G:p.Asn187Lys	coding	Benign
22	42409525	C	T	C42409525T	NFAM1	NM_145912.8(NFAM1):c.474G>A:p.Pro158=	coding	Benign
22	42411449	G	A	G42411449A	NFAM1	NM_145912.8(NFAM1):c.409C>T:p.His137Tyr	coding	Benign
22	42619781	C	T	C42619781T	CYB5R3	NM_000398.7(CYB5R3):c.898G>A:p.Val300Ile	coding	Benign
22	42619804	C	T	C42619804T	CYB5R3	NM_000398.7(CYB5R3):c.875G>A:p.Gly292Asp	coding	Pathogenic
22	42619922	C	T	C42619922T	CYB5R3	NM_000398.7(CYB5R3):c.757G>A:p.Val253Met	coding	Pathogenic
22	42619946	C	A	C42619946A	CYB5R3	NM_000398.7(CYB5R3):c.734-1G>T	coding	Pathogenic
22	42623803	T	C	T42623803C	CYB5R3	NM_000398.7(CYB5R3):c.719A>G:p.Asp240Gly	coding	Pathogenic
22	42623867	G	A	G42623867A	CYB5R3	NM_000398.7(CYB5R3):c.655C>T:p.Arg219Ter	coding	Pathogenic
22	42627326	C	T	C42627326T	CYB5R3	NM_000398.7(CYB5R3):c.611G>A:p.Cys204Tyr	coding	Pathogenic
22	42627327	A	G	A42627327G	CYB5R3	NM_000398.7(CYB5R3):c.610T>C:p.Cys204Arg	coding	Pathogenic
22	42627615	C	T	C42627615T	CYB5R3	NM_000398.7(CYB5R3):c.537G>A:p.Ala179=	coding	Benign
22	42627674	G	A	G42627674A	CYB5R3	NM_000398.7(CYB5R3):c.478C>T:p.Arg160Ter	coding	Pathogenic
22	42627681	G	A	G42627681A	CYB5R3	NM_000398.7(CYB5R3):c.471C>T:p.Phe157=	coding	Benign
22	42627690	T	G	T42627690G	CYB5R3	NM_000398.7(CYB5R3):c.464-2A>C	noncoding	Pathogenic
22	42628144	C	G	C42628144G	CYB5R3	NM_000398.7(CYB5R3):c.463+8G>C	noncoding	Pathogenic
22	42628169	A	G	A42628169G	CYB5R3	NM_000398.7(CYB5R3):c.446T>C:p.Leu149Pro	coding	Pathogenic
22	42628183	G	A	G42628183A	CYB5R3	NM_000398.7(CYB5R3):c.432C>T:p.Gly144=	coding	Benign
22	42628233	A	G	A42628233G	CYB5R3	NM_000398.7(CYB5R3):c.382T>C:p.Ser128Pro	coding	Pathogenic
22	42628265	G	C	G42628265C	CYB5R3	NM_000398.7(CYB5R3):c.350C>G:p.Thr117Ser	coding	Benign
22	42630899	C	T	C42630899T	CYB5R3	NM_000398.7(CYB5R3):c.316G>A:p.Val106Met	coding	Pathogenic
22	42630905	C	A	C42630905A	CYB5R3	NM_000398.7(CYB5R3):c.310G>T:p.Gly104Cys	coding	Pathogenic
22	42630918	G	A	G42630918A	CYB5R3	NM_000398.7(CYB5R3):c.297C>T:p.Ser99=	coding	Benign
22	42630965	G	A	G42630965A	CYB5R3	NM_000398.7(CYB5R3):c.250C>T:p.Arg84Ter	coding	Pathogenic
22	42630986	G	A	G42630986A	CYB5R3	NM_000398.7(CYB5R3):c.229C>T:p.Gln77Ter	coding	Pathogenic
22	42631376	A	G	A42631376G	CYB5R3	NM_000398.7(CYB5R3):c.226+2T>C	noncoding	Pathogenic
22	42631386	A	G	A42631386G	CYB5R3	NM_000398.7(CYB5R3):c.218T>C:p.Leu73Pro	coding	Pathogenic
22	42631414	G	C	G42631414C	CYB5R3	NM_000398.7(CYB5R3):c.190C>G:p.Leu64Val	coding	Pathogenic
22	42631431	C	T	C42631431T	CYB5R3	NM_000398.7(CYB5R3):c.173G>A:p.Arg58Gln	coding	Pathogenic
22	42636736	C	T	C42636736T	CYB5R3	NM_000398.7(CYB5R3):c.132G>A:p.Pro44=	coding	Benign
22	42636765	T	G	T42636765G	CYB5R3	NM_000398.7(CYB5R3):c.103A>C:p.Thr35Pro	coding	Pathogenic
22	42636823	T	C	T42636823C	CYB5R3	NM_000398.7(CYB5R3):c.45A>G:p.Pro15=	coding	Benign
22	42636864	G	T	G42636864T	CYB5R3	NM_000398.7(CYB5R3):c.22-18C>A	noncoding	Benign
22	42693283	G	A	G42693283A	A4GALT	NM_017436.7(A4GALT):c.669C>T:p.Phe223=	coding	Benign
22	42693464	T	C	T42693464C	A4GALT	NM_017436.7(A4GALT):c.488A>G:p.Gln163Arg	coding	Benign
22	42693585	A	G	A42693585G	A4GALT	NM_017436.7(A4GALT):c.367T>C:p.Ser123Pro	coding	Benign
22	42693652	C	G	C42693652G	A4GALT	NM_017436.7(A4GALT):c.300G>C:p.Ser100=	coding	Benign
22	42693910	G	A	G42693910A	A4GALT	NM_017436.7(A4GALT):c.42C>T:p.Gly14=	coding	Pathogenic
22	43039806	C	T	C43039806T	TTLL1	NM_012263.5(TTLL1):c.1242G>A:p.Ser414=	coding	Benign
22	43051885	C	T	C43051885T	TTLL1	NM_012263.5(TTLL1):c.894G>A:p.Pro298=	coding	Benign
22	43059426	G	A	G43059426A	TTLL1	NM_012263.5(TTLL1):c.849C>T:p.Asp283=	coding	Benign
22	43059451	T	C	T43059451C	TTLL1	NM_012263.5(TTLL1):c.824A>G:p.Lys275Arg	coding	Benign
22	43059525	C	T	C43059525T	TTLL1	NM_012263.5(TTLL1):c.750G>A:p.Glu250=	coding	Benign
22	43063840	G	A	G43063840A	TTLL1	NM_012263.5(TTLL1):c.720C>T:p.Leu240=	coding	Benign
22	43133055	C	A	C43133055A	MCAT	NM_173467.5(MCAT):c.1161G>T:p.Glu387Asp	coding	Benign
22	43133088	C	G	C43133088G	MCAT	NM_173467.5(MCAT):c.1128G>C:p.Gln376His	coding	Benign
22	43137099	C	G	C43137099G	MCAT	NM_173467.5(MCAT):c.711G>C:p.Val237=	coding	Benign
22	43168808	G	A	G43168808A	TTLL12	NM_015140.4(TTLL12):c.1749C>T:p.Val583=	coding	Benign
22	43168917	G	T	G43168917T	TTLL12	NM_015140.4(TTLL12):c.1645-5C>A	noncoding	Benign
22	43171855	C	T	C43171855T	TTLL12	NM_015140.4(TTLL12):c.1539G>A:p.Thr513=	coding	Benign
22	43174295	G	A	G43174295A	TTLL12	NM_015140.4(TTLL12):c.1143C>T:p.Pro381=	coding	Benign
22	43183075	C	T	C43183075T	TTLL12	NM_015140.4(TTLL12):c.252G>A:p.Arg84=	coding	Benign
22	43208229	G	A	G43208229A	SCUBE1	NM_173050.5(SCUBE1):c.2582-5C>T	noncoding	Benign
22	43210034	C	T	C43210034T	SCUBE1	NM_173050.5(SCUBE1):c.2581+9G>A	noncoding	Benign
22	43210206	G	A	G43210206A	SCUBE1	NM_173050.5(SCUBE1):c.2418C>T:p.Thr806=	coding	Benign
22	43218286	G	A	G43218286A	SCUBE1	NM_173050.5(SCUBE1):c.1860C>T:p.Gly620=	coding	Benign
22	43220559	G	C	G43220559C	SCUBE1	NM_173050.5(SCUBE1):c.1578C>G:p.Leu526=	coding	Benign
22	43227423	G	A	G43227423A	SCUBE1	NM_173050.5(SCUBE1):c.1158C>T:p.Cys386=	coding	Benign
22	43924110	G	A	G43924110A	PNPLA3	NM_025225.3(PNPLA3):c.187+12G>A	noncoding	Benign
22	43927042	T	G	T43927042G	PNPLA3	NM_025225.3(PNPLA3):c.295T>G:p.Cys99Gly	coding	Benign
22	43927056	G	A	G43927056A	PNPLA3	NM_025225.3(PNPLA3):c.309G>A:p.Pro103=	coding	Benign/Likely_benign
22	43927090	G	T	G43927090T	PNPLA3	NM_025225.3(PNPLA3):c.343G>T:p.Gly115Cys	coding	Benign
22	43928850	C	T	C43928850T	PNPLA3	NM_025225.3(PNPLA3):c.447C>T:p.Pro149=	coding	Benign
22	43932952	C	T	C43932952T	PNPLA3	NM_025225.3(PNPLA3):c.561C>T:p.Phe187=	coding	Benign
22	43933070	G	A	G43933070A	PNPLA3	NM_025225.3(PNPLA3):c.679G>A:p.Val227Ile	coding	Benign
22	43937265	C	T	C43937265T	PNPLA3	NM_025225.3(PNPLA3):c.972C>T:p.Leu324=	coding	Benign/Likely_benign
22	43946236	A	G	A43946236G	PNPLA3	NM_025225.3(PNPLA3):c.1300A>G:p.Lys434Glu	coding	Benign
22	43946295	C	G	C43946295G	PNPLA3	NM_025225.3(PNPLA3):c.1359C>G:p.Ser453Arg	coding	Benign
22	43946445	C	T	C43946445T	PNPLA3	NM_025225.3(PNPLA3):c.*63C>T	noncoding	Benign
22	43946775	G	C	G43946775C	PNPLA3	NM_025225.3(PNPLA3):c.*393G>C	noncoding	Benign
22	43946811	T	C	T43946811C	PNPLA3	NM_025225.3(PNPLA3):c.*429T>C	noncoding	Benign
22	43947089	T	C	T43947089C	PNPLA3	NM_025225.3(PNPLA3):c.*707T>C	noncoding	Benign
22	43963366	A	G	A43963366G	SAMM50	NM_015380.5(SAMM50):c.102A>G:p.Glu34=	coding	Benign
22	43972861	C	T	C43972861T	SAMM50	NM_015380.5(SAMM50):c.430-10C>T	noncoding	Benign
22	43973296	G	A	G43973296A	SAMM50	NM_015380.5(SAMM50):c.621G>A:p.Thr207=	coding	Benign
22	43977940	G	A	G43977940A	SAMM50	NM_015380.5(SAMM50):c.918G>A:p.Lys306=	coding	Benign
22	43989229	C	T	C43989229T	SAMM50	NM_015380.5(SAMM50):c.1194C>T:p.Asn398=	coding	Benign
22	44093970	C	G	C44093970G	PARVB	NM_001003828.2(PARVB):c.254C>G:p.Pro85Arg	coding	Benign
22	44147886	C	T	C44147886T	PARVB	NM_001003828.2(PARVB):c.837C>T:p.Phe279=	coding	Benign
22	44168627	C	T	C44168627T	PARVB	NM_001003828.2(PARVB):c.1143C>T:p.Ser381=	coding	Benign
22	44168669	C	T	C44168669T	PARVB	NM_001003828.2(PARVB):c.1185C>T:p.Asn395=	coding	Benign
22	44497422	G	T	G44497422T	RTL6	NM_032287.3(RTL6):c.135C>A:p.Thr45=	coding	Benign
22	44825524	C	T	C44825524T	ARHGAP8	NM_001017526.1(ARHGAP8):c.620C>T:p.Pro207Leu	coding	Benign
22	44859809	G	T	G44859809T	ARHGAP8	NM_001017526.1(ARHGAP8):c.1049G>T:p.Arg350Leu	coding	Benign
22	44862415	C	A	C44862415A	ARHGAP8	NM_001017526.1(ARHGAP8):c.1215C>A:p.Ile405=	coding	Benign
22	45284989	G	C	G45284989C	UPK3A	NM_006953.4(UPK3A):c.-25G>C	noncoding	Benign
22	45285978	C	T	C45285978T	UPK3A	NM_006953.4(UPK3A):c.90C>T:p.Phe30=	coding	Benign/Likely_benign
22	45287222	T	G	T45287222G	UPK3A	NM_006953.4(UPK3A):c.259T>G:p.Ser87Ala	coding	Benign/Likely_benign
22	45287223	C	A	C45287223A	UPK3A	NM_006953.4(UPK3A):c.260C>A:p.Ser87Ter	coding	Benign/Likely_benign
22	45287235	A	T	A45287235T	UPK3A	NM_006953.4(UPK3A):c.272A>T:p.Gln91Leu	coding	Benign
22	45287319	T	C	T45287319C	UPK3A	NM_006953.4(UPK3A):c.356T>C:p.Ile119Thr	coding	Benign/Likely_benign
22	45287365	C	T	C45287365T	UPK3A	NM_006953.4(UPK3A):c.402C>T:p.Val134=	coding	Benign
22	45287423	G	C	G45287423C	UPK3A	NM_006953.4(UPK3A):c.460G>C:p.Ala154Pro	coding	Benign
22	45287428	C	T	C45287428T	UPK3A	NM_006953.4(UPK3A):c.465C>T:p.Pro155=	coding	Benign
22	45289117	G	A	G45289117A	UPK3A	NM_006953.4(UPK3A):c.545G>A:p.Trp182Ter	coding	Benign/Likely_benign
22	45289121	A	G	A45289121G	UPK3A	NM_006953.4(UPK3A):c.549A>G:p.Ser183=	coding	Benign
22	45289144	G	A	G45289144A	UPK3A	NM_006953.4(UPK3A):c.571+1G>A	coding	Benign/Likely_benign
22	45293197	G	A	G45293197A	UPK3A	NM_006953.4(UPK3A):c.588G>A:p.Thr196=	coding	Benign/Likely_benign
22	45295713	A	G	A45295713G	UPK3A	NM_006953.4(UPK3A):c.858A>G:p.Gln286=	coding	Benign
22	45344581	C	G	C45344581G	SMC1B	NM_148674.5(SMC1B):c.3683G>C:p.Ser1228Thr	coding	Benign
22	45345483	G	A	G45345483A	SMC1B	NM_148674.5(SMC1B):c.3582C>T:p.Asp1194=	coding	Benign
22	45359968	C	T	C45359968T	SMC1B	NM_148674.5(SMC1B):c.2709-10G>A	noncoding	Benign
22	45371533	A	G	A45371533G	SMC1B	NM_148674.5(SMC1B):c.2251T>C:p.Leu751=	coding	Benign
22	45402449	A	G	A45402449G	SMC1B	NM_148674.5(SMC1B):c.738T>C:p.Asn246=	coding	Benign
22	45503057	G	A	G45503057A	FBLN1	NM_006486.3(FBLN1):c.72G>A:p.Ala24=	coding	Benign/Likely_benign
22	45518791	C	T	C45518791T	FBLN1	NM_006486.3(FBLN1):c.185+4C>T	noncoding	Benign
22	45525669	A	G	A45525669G	FBLN1	NM_006486.3(FBLN1):c.312A>G:p.Thr104=	coding	Benign
22	45528014	C	A	C45528014A	FBLN1	NM_006486.3(FBLN1):c.484+5C>A	noncoding	Benign
22	45535343	A	C	A45535343C	FBLN1	NM_006486.3(FBLN1):c.922+6A>C	noncoding	Benign
22	45541222	G	A	G45541222A	FBLN1	NM_006486.3(FBLN1):c.923-7G>A	noncoding	Benign
22	45541263	C	T	C45541263T	FBLN1	NM_006486.3(FBLN1):c.957C>T:p.Cys319=	coding	Benign
22	45542208	G	A	G45542208A	FBLN1	NM_006486.3(FBLN1):c.1120G>A:p.Val374Met	coding	Benign
22	45543414	C	T	C45543414T	FBLN1	NM_006486.3(FBLN1):c.1209C>T:p.Cys403=	coding	Benign
22	45547131	C	T	C45547131T	FBLN1	NM_006486.3(FBLN1):c.1368C>T:p.Asn456=	coding	Benign
22	45547213	G	A	G45547213A	FBLN1	NM_006486.3(FBLN1):c.1441+9G>A	noncoding	Benign/Likely_benign
22	45548713	C	T	C45548713T	FBLN1	NM_006486.3(FBLN1):c.1542C>T:p.Tyr514=	coding	Benign
22	45550608	G	A	G45550608A	FBLN1	NM_006486.3(FBLN1):c.1690G>A:p.Ala564Thr	coding	Benign
22	45577008	G	A	G45577008A	FBLN1	NM_006486.3(FBLN1):c.1872G>A:p.Pro624=	coding	Benign
22	45600374	T	C	T45600374C	FBLN1	NM_006486.3(FBLN1):c.2040T>C:p.Tyr680=	coding	Benign
22	45600418	A	G	A45600418G	FBLN1	NM_006486.3(FBLN1):c.2084A>G:p.His695Arg	coding	Benign
22	45923003	C	T	C45923003T	WNT7B	NM_058238.3(WNT7B):c.903G>A:p.Ala301=	coding	Benign
22	45923156	G	T	G45923156T	WNT7B	NM_058238.3(WNT7B):c.750C>A:p.Thr250=	coding	Benign
22	45949926	G	A	G45949926A	WNT7B	NM_058238.3(WNT7B):c.292C>T:p.Arg98Ter	coding	Pathogenic
22	46219853	C	T	C46219853T	PPARA	NM_001362873.1(PPARA):c.550C>T:p.Leu184=	coding	Benign
22	46219983	T	C	T46219983C	PPARA	NM_001362873.1(PPARA):c.680T>C:p.Val227Ala	coding	Benign
22	46220008	C	T	C46220008T	PPARA	NM_001362873.1(PPARA):c.705C>T:p.Asn235=	coding	Benign
22	46297440	C	G	C46297440G	GTSE1	NM_016426.7(GTSE1):c.40C>G:p.Arg14Gly	coding	Benign
22	46308142	C	T	C46308142T	GTSE1	NM_016426.7(GTSE1):c.80-8C>T	noncoding	Benign
22	46308658	G	A	G46308658A	GTSE1	NM_016426.7(GTSE1):c.477G>A:p.Thr159=	coding	Benign
22	46308683	C	T	C46308683T	GTSE1	NM_016426.7(GTSE1):c.502C>T:p.Leu168=	coding	Benign
22	46308713	G	T	G46308713T	GTSE1	NM_016426.7(GTSE1):c.532G>T:p.Val178Leu	coding	Benign
22	46308730	C	G	C46308730G	GTSE1	NM_016426.7(GTSE1):c.549C>G:p.Leu183=	coding	Benign
22	46308837	C	T	C46308837T	GTSE1	NM_016426.7(GTSE1):c.656C>T:p.Ala219Val	coding	Benign
22	46312255	G	A	G46312255A	GTSE1	NM_016426.7(GTSE1):c.877G>A:p.Ala293Thr	coding	Benign
22	46326500	G	A	G46326500A	GTSE1	NM_016426.7(GTSE1):c.1570G>A:p.Ala524Thr	coding	Benign
22	46329391	G	A	G46329391A	GTSE1	NM_016426.7(GTSE1):c.1960G>A:p.Ala654Thr	coding	Benign
22	46335648	G	C	G46335648C	TRMU	NM_018006.4(TRMU):c.-117G>C	noncoding	Benign/Likely_benign
22	46335721	G	A	G46335721A	TRMU	NM_018006.5(TRMU):c.-44G>A	noncoding	Benign/Likely_benign
22	46335766	T	A	T46335766A	TRMU	NM_018006.5(TRMU):c.2T>A:p.Met1Lys	coding	Pathogenic
22	46335766	T	C	T46335766C	TRMU	NM_018006.5(TRMU):c.2T>C:p.Met1Thr	coding	Pathogenic
22	46335766	T	G	T46335766G	TRMU	NM_018006.5(TRMU):c.2T>G:p.Met1Arg	coding	Pathogenic
22	46335773	C	G	C46335773G	TRMU	NM_018006.5(TRMU):c.9C>G:p.Ala3=	coding	Benign
22	46335774	T	G	T46335774G	TRMU	NM_018006.5(TRMU):c.10T>G:p.Leu4Val	coding	Benign/Likely_benign
22	46335792	G	T	G46335792T	TRMU	NM_018006.5(TRMU):c.28G>T:p.Ala10Ser	coding	Benign
22	46335839	G	T	G46335839T	TRMU	NM_018006.5(TRMU):c.75G>T:p.Arg25Ser	coding	Benign
22	46336090	A	G	A46336090G	TRMU	NM_018006.5(TRMU):c.82+244A>G	noncoding	Benign
22	46337760	T	C	T46337760C	TRMU	NM_018006.5(TRMU):c.83-19T>C	noncoding	Benign
22	46337813	G	A	G46337813A	TRMU	NM_018006.5(TRMU):c.117G>A:p.Trp39Ter	coding	Pathogenic
22	46337925	T	C	T46337925C	TRMU	NM_018006.5(TRMU):c.229T>C:p.Tyr77His	coding	Pathogenic
22	46343054	G	A	G46343054A	TRMU	NM_018006.5(TRMU):c.249-208G>A	noncoding	Benign
22	46343285	A	G	A46343285G	TRMU	NM_018006.5(TRMU):c.272A>G:p.Lys91Arg	coding	Benign
22	46346453	A	G	A46346453G	TRMU	NM_018006.5(TRMU):c.387A>G:p.Ala129=	coding	Benign/Likely_benign
22	46346508	G	A	G46346508A	TRMU	NM_018006.5(TRMU):c.442G>A:p.Glu148Lys	coding	Benign
22	46346779	G	A	G46346779A	TRMU	NM_018006.5(TRMU):c.478+235G>A	noncoding	Benign
22	46350291	C	T	C46350291T	TRMU	NM_018006.5(TRMU):c.479C>T:p.Ala160Val	coding	Benign
22	46350364	C	T	C46350364T	TRMU	NM_018006.5(TRMU):c.552C>T:p.Ala184=	coding	Benign
22	46350379	C	G	C46350379G	TRMU	NM_018006.5(TRMU):c.567C>G:p.Ile189Met	coding	Benign/Likely_benign
22	46352105	C	T	C46352105T	TRMU	NM_018006.5(TRMU):c.652-16C>T	noncoding	Benign
22	46352276	C	T	C46352276T	TRMU	NM_018006.5(TRMU):c.718C>T:p.Arg240Ter	coding	Pathogenic
22	46352413	T	C	T46352413C	TRMU	NM_018006.5(TRMU):c.772+83T>C	noncoding	Benign
22	46352436	A	C	A46352436C	TRMU	NM_018006.5(TRMU):c.772+106A>C	noncoding	Benign
22	46352473	G	A	G46352473A	TRMU	NM_018006.5(TRMU):c.772+143G>A	noncoding	Benign
22	46352547	G	A	G46352547A	TRMU	NM_018006.5(TRMU):c.772+217G>A	noncoding	Benign
22	46353809	G	A	G46353809A	TRMU	NM_018006.5(TRMU):c.815G>A:p.Gly272Asp	coding	Pathogenic
22	46353829	G	A	G46353829A	TRMU	NM_018006.5(TRMU):c.835G>A:p.Val279Met	coding	Pathogenic/Likely_pathogenic
22	46353858	C	T	C46353858T	TRMU	NM_018006.5(TRMU):c.864C>T:p.Asp288=	coding	Benign
22	46354111	A	G	A46354111G	TRMU	NM_018006.5(TRMU):c.873+244A>G	noncoding	Benign
22	46355480	C	G	C46355480G	TRMU	NM_018006.5(TRMU):c.910C>G:p.Leu304Val	coding	Benign/Likely_benign
22	46355497	C	T	C46355497T	TRMU	NM_018006.5(TRMU):c.927C>T:p.Arg309=	coding	Benign
22	46355564	C	T	C46355564T	TRMU	NM_018006.5(TRMU):c.994C>T:p.Arg332Ter	coding	Pathogenic
22	46355832	C	T	C46355832T	TRMU	NM_018006.5(TRMU):c.1019-158C>T	noncoding	Benign
22	46356183	G	C	G46356183C	TRMU	NM_018006.5(TRMU):c.1101+111G>C	noncoding	Benign
22	46356898	G	A	G46356898A	TRMU	NM_018006.5(TRMU):c.1158G>A:p.Leu386=	coding	Benign/Likely_benign
22	46356916	G	A	G46356916A	TRMU	NM_018006.5(TRMU):c.1176G>A:p.Thr392=	coding	Benign
22	46356932	C	T	C46356932T	TRMU	NM_018006.5(TRMU):c.1192C>T:p.Arg398Cys	coding	Benign/Likely_benign
22	46357014	G	C	G46357014C	TRMU	NM_018006.5(TRMU):c.*8G>C	noncoding	Benign
22	46357049	T	G	T46357049G	TRMU	NM_018006.5(TRMU):c.*43T>G	noncoding	Benign
22	46357130	G	C	G46357130C	TRMU	NM_018006.5(TRMU):c.*124G>C	noncoding	Benign
22	46357157	C	T	C46357157T	TRMU	NM_018006.5(TRMU):c.*151C>T	noncoding	Benign
22	46357216	G	C	G46357216C	TRMU	NM_018006.5(TRMU):c.*210G>C	noncoding	Benign
22	46357282	G	A	G46357282A	TRMU	NM_018006.5(TRMU):c.*276G>A	noncoding	Benign
22	46364043	G	C	G46364043C	CELSR1	NM_014246.3(CELSR1):c.8988C>G:p.Ala2996=	coding	Benign
22	46364070	C	T	C46364070T	CELSR1	NM_014246.3(CELSR1):c.8961G>A:p.Pro2987=	coding	Benign
22	46364084	G	C	G46364084C	CELSR1	NM_014246.3(CELSR1):c.8947C>G:p.Pro2983Ala	coding	Benign
22	46364140	G	A	G46364140A	CELSR1	NM_014246.3(CELSR1):c.8891C>T:p.Ser2964Leu	coding	Benign
22	46365370	G	A	G46365370A	CELSR1	NM_014246.3(CELSR1):c.8415C>T:p.Ser2805=	coding	Benign
22	46365623	G	A	G46365623A	CELSR1	NM_014246.3(CELSR1):c.8367C>T:p.Asp2789=	coding	Benign
22	46365671	C	T	C46365671T	CELSR1	NM_014246.3(CELSR1):c.8319G>A:p.Lys2773=	coding	Benign
22	46366448	G	A	G46366448A	CELSR1	NM_014246.3(CELSR1):c.8238C>T:p.Asp2746=	coding	Benign
22	46367837	T	C	T46367837C	CELSR1	NM_014246.3(CELSR1):c.7971A>G:p.Ala2657=	coding	Benign
22	46377091	G	A	G46377091A	CELSR1	NM_014246.3(CELSR1):c.7554C>T:p.Phe2518=	coding	Benign
22	46377091	G	T	G46377091T	CELSR1	NM_014246.3(CELSR1):c.7554C>A:p.Phe2518Leu	coding	Benign
22	46377250	G	T	G46377250T	CELSR1	NM_014246.3(CELSR1):c.7395C>A:p.Val2465=	coding	Benign
22	46378706	G	A	G46378706A	CELSR1	NM_014246.3(CELSR1):c.7268C>T:p.Thr2423Met	coding	Benign
22	46380850	G	A	G46380850A	CELSR1	NM_014246.3(CELSR1):c.7194C>T:p.Phe2398=	coding	Benign
22	46381999	C	G	C46381999G	CELSR1	NM_014246.3(CELSR1):c.6935G>C:p.Arg2312Pro	coding	Benign
22	46384580	G	A	G46384580A	CELSR1	NM_014246.3(CELSR1):c.6846C>T:p.Ser2282=	coding	Benign
22	46386401	C	T	C46386401T	CELSR1	NM_014246.3(CELSR1):c.6739+1G>A	noncoding	Pathogenic
22	46386565	G	A	G46386565A	CELSR1	NM_014246.3(CELSR1):c.6576C>T:p.Ser2192=	coding	Benign
22	46389434	C	T	C46389434T	CELSR1	NM_014246.3(CELSR1):c.6411G>A:p.Ala2137=	coding	Benign
22	46389473	C	A	C46389473A	CELSR1	NM_014246.3(CELSR1):c.6372G>T:p.Thr2124=	coding	Benign
22	46389479	A	G	A46389479G	CELSR1	NM_014246.3(CELSR1):c.6366T>C:p.Asn2122=	coding	Benign
22	46391212	G	A	G46391212A	CELSR1	NM_014246.3(CELSR1):c.6224C>T:p.Ala2075Val	coding	Benign
22	46391647	G	A	G46391647A	CELSR1	NM_014246.3(CELSR1):c.6134C>T:p.Thr2045Met	coding	Benign
22	46391703	G	A	G46391703A	CELSR1	NM_014246.3(CELSR1):c.6078C>T:p.Pro2026=	coding	Benign
22	46397753	G	A	G46397753A	CELSR1	NM_014246.3(CELSR1):c.5622C>T:p.Asp1874=	coding	Benign
22	46399819	G	A	G46399819A	CELSR1	NM_014246.3(CELSR1):c.5310C>T:p.Thr1770=	coding	Benign
22	46408994	A	T	A46408994T	CELSR1	NM_014246.3(CELSR1):c.5226+2T>A	noncoding	Pathogenic
22	46409137	G	A	G46409137A	CELSR1	NM_014246.3(CELSR1):c.5085C>T:p.Ser1695=	coding	Benign
22	46409745	G	A	G46409745A	CELSR1	NM_014246.3(CELSR1):c.5059+10C>T	noncoding	Benign
22	46409746	G	A	G46409746A	CELSR1	NM_014246.3(CELSR1):c.5059+9C>T	noncoding	Benign
22	46410522	G	A	G46410522A	CELSR1	NM_014246.3(CELSR1):c.4809C>T:p.Val1603=	coding	Benign
22	46411688	A	G	A46411688G	CELSR1	NM_014246.3(CELSR1):c.4683T>C:p.Asp1561=	coding	Benign
22	46433432	G	A	G46433432A	CELSR1	NM_014246.3(CELSR1):c.4572C>T:p.Asp1524=	coding	Benign
22	46439218	T	C	T46439218C	CELSR1	NM_014246.3(CELSR1):c.4377A>G:p.Arg1459=	coding	Benign
22	46464152	G	A	G46464152A	CELSR1	NM_014246.3(CELSR1):c.3738C>T:p.Asn1246=	coding	Benign
22	46534853	G	A	G46534853A	CELSR1	NM_014246.3(CELSR1):c.2318C>T:p.Ala773Val	coding	Benign
22	46534897	G	A	G46534897A	CELSR1	NM_014246.3(CELSR1):c.2274C>T:p.Tyr758=	coding	Benign
22	46534975	G	T	G46534975T	CELSR1	NM_014246.3(CELSR1):c.2196C>A:p.Arg732=	coding	Benign
22	46535290	G	A	G46535290A	CELSR1	NM_014246.3(CELSR1):c.1881C>T:p.Asp627=	coding	Benign
22	46535395	C	T	C46535395T	CELSR1	NM_014246.3(CELSR1):c.1776G>A:p.Ala592=	coding	Benign
22	46535412	T	C	T46535412C	CELSR1	NM_014246.3(CELSR1):c.1759A>G:p.Ile587Val	coding	Benign
22	46536106	C	T	C46536106T	CELSR1	NM_014246.3(CELSR1):c.1065G>A:p.Gln355=	coding	Benign
22	46626917	G	T	G46626917T	GRAMD4	NM_015124.5(GRAMD4):c.118G>T:p.Val40Leu	coding	Benign
22	46690006	A	T	A46690006T	CERK	NM_022766.6(CERK):c.1527T>A:p.Pro509=	coding	Benign
22	46690151	G	A	G46690151A	CERK	NM_022766.6(CERK):c.1382C>T:p.Thr461Met	coding	Benign
22	46720126	G	A	G46720126A	CERK	NM_022766.6(CERK):c.339C>T:p.His113=	coding	Benign
22	46793719	C	T	C46793719T	TBC1D22A	NM_014346.5(TBC1D22A):c.338C>T:p.Thr113Met	coding	Benign
22	46793850	G	C	G46793850C	TBC1D22A	NM_014346.5(TBC1D22A):c.460+9G>C	noncoding	Benign
22	46797507	C	T	C46797507T	TBC1D22A	NM_014346.5(TBC1D22A):c.524C>T:p.Thr175Met	coding	Benign
22	48646664	G	A	G48646664A	TAFA5	NM_001082967.3(TAFA5):c.180G>A:p.Thr60=	coding	Benign
22	49775698	G	C	G49775698C	BRD1	NM_001304808.3(BRD1):c.3279C>G:p.Val1093=	coding	Benign
22	49776122	G	A	G49776122A	BRD1	NM_001304808.3(BRD1):c.3159C>T:p.Ala1053=	coding	Benign
22	49777095	G	A	G49777095A	BRD1	NM_001304808.3(BRD1):c.3060C>T:p.Arg1020=	coding	Benign
22	49794067	C	T	C49794067T	BRD1	NM_001304808.3(BRD1):c.2326G>A:p.Gly776Arg	coding	Benign
22	49794080	G	A	G49794080A	BRD1	NM_001304808.3(BRD1):c.2313C>T:p.Gly771=	coding	Benign
22	49797837	G	A	G49797837A	BRD1	NM_001304808.3(BRD1):c.2066C>T:p.Ala689Val	coding	Benign
22	49823110	T	C	T49823110C	BRD1	NM_001304808.3(BRD1):c.1208A>G:p.Asp403Gly	coding	Benign
22	49823985	C	T	C49823985T	BRD1	NM_001304808.3(BRD1):c.333G>A:p.Pro111=	coding	Benign
22	49824001	C	G	C49824001G	BRD1	NM_001304808.3(BRD1):c.317G>C:p.Ser106Thr	coding	Benign
22	49883834	C	T	C49883834T	ZBED4	NM_014838.3(ZBED4):c.172C>T:p.Arg58Ter	coding	Pathogenic
22	49883839	G	A	G49883839A	ZBED4	NM_014838.3(ZBED4):c.177G>A:p.Ala59=	coding	Benign
22	49885387	A	G	A49885387G	ZBED4	NM_014838.3(ZBED4):c.1725A>G:p.Thr575=	coding	Benign
22	49886092	C	T	C49886092T	ZBED4	NM_014838.3(ZBED4):c.2430C>T:p.Asn810=	coding	Benign
22	49886134	C	T	C49886134T	ZBED4	NM_014838.3(ZBED4):c.2472C>T:p.Ser824=	coding	Benign
22	49887085	C	T	C49887085T	ZBED4	NM_014838.3(ZBED4):c.3423C>T:p.Asn1141=	coding	Benign
22	49887111	T	C	T49887111C	ZBED4	NM_014838.3(ZBED4):c.3449T>C:p.Met1150Thr	coding	Benign
22	49903558	C	T	C49903558T	ALG12	NM_024105.4(ALG12):c.*280G>A	noncoding	Benign
22	49903598	C	T	C49903598T	ALG12	NM_024105.4(ALG12):c.*240G>A	noncoding	Benign
22	49903787	T	C	T49903787C	ALG12	NM_024105.4(ALG12):c.*51A>G	noncoding	Benign
22	49904063	G	C	G49904063C	ALG12	NM_024105.4(ALG12):c.1242C>G:p.Tyr414Ter	coding	Pathogenic
22	49904240	T	C	T49904240C	ALG12	NM_024105.4(ALG12):c.1177A>G:p.Ile393Val	coding	Benign
22	49904470	C	T	C49904470T	ALG12	NM_024105.4(ALG12):c.1029G>A:p.Ala343=	coding	Benign
22	49907774	G	A	G49907774A	ALG12	NM_024105.4(ALG12):c.939C>T:p.Ile313=	coding	Benign/Likely_benign
22	49907828	T	C	T49907828C	ALG12	NM_024105.4(ALG12):c.885A>G:p.Ala295=	coding	Benign
22	49909202	A	G	A49909202G	ALG12	NM_024105.4(ALG12):c.768+42T>C	noncoding	Benign
22	49909314	C	T	C49909314T	ALG12	NM_024105.4(ALG12):c.698G>A:p.Arg233Gln	coding	Benign/Likely_benign
22	49909867	A	C	A49909867C	ALG12	NM_024105.4(ALG12):c.664+27T>G	noncoding	Benign
22	49909882	T	C	T49909882C	ALG12	NM_024105.4(ALG12):c.664+12A>G	noncoding	Benign
22	49909885	C	G	C49909885G	ALG12	NM_024105.4(ALG12):c.664+9G>C	noncoding	Benign
22	49909913	C	T	C49909913T	ALG12	NM_024105.4(ALG12):c.645G>A:p.Pro215=	coding	Benign/Likely_benign
22	49909927	G	A	G49909927A	ALG12	NM_024105.4(ALG12):c.631C>T:p.Arg211Cys	coding	Benign/Likely_benign
22	49910085	A	G	A49910085G	ALG12	NM_024105.4(ALG12):c.473T>C:p.Leu158Pro	coding	Pathogenic
22	49910421	G	A	G49910421A	ALG12	NM_024105.4(ALG12):c.469+13C>T	noncoding	Benign/Likely_benign
22	49910438	A	G	A49910438G	ALG12	NM_024105.4(ALG12):c.465T>C:p.Pro155=	coding	Benign
22	49910466	C	T	C49910466T	ALG12	NM_024105.4(ALG12):c.437G>A:p.Arg146Gln	coding	Pathogenic
22	49910479	A	C	A49910479C	ALG12	NM_024105.4(ALG12):c.424T>G:p.Phe142Val	coding	Pathogenic
22	49910602	C	T	C49910602T	ALG12	NM_024105.4(ALG12):c.301G>A:p.Gly101Arg	coding	Pathogenic
22	49913480	G	A	G49913480A	ALG12	NM_024105.4(ALG12):c.200C>T:p.Thr67Met	coding	Pathogenic
22	49913536	G	T	G49913536T	ALG12	NM_024105.4(ALG12):c.163-19C>A	noncoding	Benign
22	49913667	C	T	C49913667T	ALG12	NM_024105.4(ALG12):c.99G>A:p.Val33=	coding	Benign
22	49913718	C	G	C49913718G	ALG12	NM_024105.4(ALG12):c.48G>C:p.Leu16=	coding	Benign/Likely_benign
22	49918325	A	G	A49918325G	ALG12	NM_024105.4(ALG12):c.-141T>C	noncoding	Benign
22	49918387	C	T	C49918387T	ALG12	NM_024105.4(ALG12):c.-203G>A	noncoding	Benign
22	49921655	C	T	C49921655T	CRELD2	NM_024324.5(CRELD2):c.486C>T:p.Gly162=	coding	Benign
22	49923253	C	T	C49923253T	CRELD2	NM_024324.5(CRELD2):c.708C>T:p.Ala236=	coding	Benign
22	49925430	C	T	C49925430T	CRELD2	NM_024324.5(CRELD2):c.882C>T:p.Cys294=	coding	Benign
22	49961135	C	G	C49961135G	PIM3	NM_001001852.4(PIM3):c.96C>G:p.Asp32Glu	coding	Benign
22	49962738	C	T	C49962738T	PIM3	NM_001001852.4(PIM3):c.666C>T:p.His222=	coding	Benign
22	49963083	C	T	C49963083T	PIM3	NM_001001852.4(PIM3):c.937C>T:p.Pro313Ser	coding	Benign
22	50059620	G	C	G50059620C	MLC1	NM_015166.3(MLC1):c.*1963C>G	noncoding	Benign
22	50059747	C	T	C50059747T	MLC1	NM_015166.3(MLC1):c.*1836G>A	noncoding	Benign
22	50059810	C	G	C50059810G	MLC1	NM_015166.3(MLC1):c.*1773G>C	noncoding	Benign
22	50059819	C	A	C50059819A	MLC1	NM_015166.3(MLC1):c.*1764G>T	noncoding	Benign
22	50059960	C	A	C50059960A	MLC1	NM_015166.3(MLC1):c.*1623G>T	noncoding	Benign
22	50060249	C	T	C50060249T	MLC1	NM_015166.3(MLC1):c.*1334G>A	noncoding	Benign
22	50060262	T	C	T50060262C	MLC1	NM_015166.4(MLC1):c.*1321A>G	noncoding	Benign
22	50060440	G	A	G50060440A	MLC1	NM_015166.3(MLC1):c.*1143C>T	noncoding	Benign
22	50060456	G	A	G50060456A	MLC1	NM_015166.3(MLC1):c.*1127C>T	noncoding	Benign
22	50060592	A	C	A50060592C	MLC1	NM_015166.3(MLC1):c.*991T>G	noncoding	Benign
22	50060613	C	G	C50060613G	MLC1	NM_015166.3(MLC1):c.*970G>C	noncoding	Benign
22	50060646	G	A	G50060646A	MLC1	NM_015166.3(MLC1):c.*937C>T	noncoding	Benign
22	50060810	C	T	C50060810T	MLC1	NM_015166.3(MLC1):c.*773G>A	noncoding	Benign
22	50060922	C	G	C50060922G	MLC1	NM_015166.4(MLC1):c.*661G>C	noncoding	Benign
22	50061011	G	A	G50061011A	MLC1	NM_015166.4(MLC1):c.*572C>T	noncoding	Benign
22	50061244	G	A	G50061244A	MLC1	NM_015166.3(MLC1):c.*339C>T	noncoding	Benign
22	50061528	G	A	G50061528A	MLC1	NM_015166.4(MLC1):c.*55C>T	noncoding	Benign
22	50061535	T	C	T50061535C	MLC1	NM_015166.3(MLC1):c.*48A>G	noncoding	Benign
22	50061538	T	C	T50061538C	MLC1	NM_015166.3(MLC1):c.*45A>G	noncoding	Benign
22	50061571	C	T	C50061571T	MLC1	NM_015166.4(MLC1):c.*12G>A	noncoding	Benign
22	50061631	G	A	G50061631A	MLC1	NM_015166.4(MLC1):c.1086C>T:p.Phe362=	coding	Benign
22	50064040	A	G	A50064040G	MLC1	NM_015166.3(MLC1):c.1053T>C:p.Ala351=	coding	Benign/Likely_benign
22	50064062	T	C	T50064062C	MLC1	NM_015166.3(MLC1):c.1031A>G:p.Asn344Ser	coding	Benign
22	50064097	A	G	A50064097G	MLC1	NM_015166.3(MLC1):c.996T>C:p.Ser332=	coding	Benign
22	50064114	C	T	C50064114T	MLC1	NM_139202.2(MLC1):c.979G>A:p.Val327Met	coding	Benign
22	50064115	G	A	G50064115A	MLC1	NM_015166.3(MLC1):c.978C>T:p.Cys326=	coding	Benign
22	50064161	A	T	A50064161T	MLC1	NM_015166.3(MLC1):c.932T>A:p.Val311Glu	coding	Benign
22	50064168	G	T	G50064168T	MLC1	NM_015166.3(MLC1):c.925C>A:p.Leu309Met	coding	Benign
22	50064200	T	C	T50064200C	MLC1	NM_015166.3(MLC1):c.895-2A>G	noncoding	Pathogenic
22	50064207	G	A	G50064207A	MLC1	NM_015166.3(MLC1):c.895-9C>T	noncoding	Benign
22	50064221	G	A	G50064221A	MLC1	NM_139202.2(MLC1):c.895-23C>T	noncoding	Benign
22	50068589	C	T	C50068589T	MLC1	NM_139202.2(MLC1):c.772-34G>A	noncoding	Benign
22	50068590	G	A	G50068590A	MLC1	NM_139202.2(MLC1):c.772-35C>T	noncoding	Benign
22	50074188	C	T	C50074188T	MLC1	NM_139202.2(MLC1):c.714+28G>A	noncoding	Benign
22	50074229	C	T	C50074229T	MLC1	NM_015166.4(MLC1):c.701G>A:p.Trp234Ter	coding	Pathogenic
22	50074276	G	T	G50074276T	MLC1	NM_015166.3(MLC1):c.654C>A:p.Asn218Lys	coding	Benign/Likely_benign
22	50074313	C	A	C50074313A	MLC1	NM_015166.3(MLC1):c.617G>T:p.Gly206Val	coding	Pathogenic
22	50074329	C	T	C50074329T	MLC1	NM_015166.4(MLC1):c.601G>A:p.Val201Ile	coding	Benign
22	50076841	T	C	T50076841C	MLC1	NM_015166.3(MLC1):c.597A>G:p.Ser199=	coding	Benign
22	50076844	G	A	G50076844A	MLC1	NM_015166.3(MLC1):c.594C>T:p.Tyr198=	coding	Benign
22	50076894	C	T	C50076894T	MLC1	NM_015166.4(MLC1):c.544G>A:p.Ala182Thr	coding	Benign
22	50077379	C	T	C50077379T	MLC1	NM_015166.3(MLC1):c.525+22G>A	noncoding	Benign
22	50077414	C	A	C50077414A	MLC1	NM_015166.3(MLC1):c.512G>T:p.Cys171Phe	coding	Benign
22	50079918	G	T	G50079918T	MLC1	NM_015166.3(MLC1):c.423C>A:p.Asn141Lys	coding	Pathogenic
22	50079919	T	C	T50079919C	MLC1	NM_015166.3(MLC1):c.422A>G:p.Asn141Ser	coding	Pathogenic
22	50079988	G	A	G50079988A	MLC1	NM_015166.4(MLC1):c.353C>T:p.Thr118Met	coding	Pathogenic
22	50080294	A	G	A50080294G	MLC1	NM_015166.3(MLC1):c.321+50T>C	noncoding	Benign
22	50080386	C	T	C50080386T	MLC1	NM_015166.3(MLC1):c.279G>A:p.Ser93=	coding	Benign
22	50083133	C	T	C50083133T	MLC1	NM_015166.3(MLC1):c.218G>A:p.Gly73Glu	coding	Pathogenic
22	50083135	C	T	C50083135T	MLC1	NM_015166.3(MLC1):c.216G>A:p.Leu72=	coding	Benign
22	50083145	G	A	G50083145A	MLC1	NM_015166.3(MLC1):c.206C>T:p.Ser69Leu	coding	Pathogenic
22	50084727	C	T	C50084727T	MLC1	NM_015166.3(MLC1):c.176G>A:p.Gly59Glu	coding	Pathogenic/Likely_pathogenic
22	50084975	A	T	A50084975T	MLC1	NM_015166.4(MLC1):c.-59-14T>A	noncoding	Benign
22	50085451	G	A	G50085451A	MLC1	NM_015166.3(MLC1):c.-156C>T	noncoding	Benign
22	50085856	C	T	C50085856T	MLC1	NM_015166.3(MLC1):c.-561G>A	noncoding	Benign
22	50217738	A	C	A50217738C	TUBGCP6	NM_020461.4(TUBGCP6):c.5458T>G:p.Ter1820Gly	coding	Pathogenic
22	50217999	G	A	G50217999A	TUBGCP6	NM_020461.4(TUBGCP6):c.5287C>T:p.Arg1763Trp	coding	Benign
22	50218105	C	T	C50218105T	TUBGCP6	NM_020461.4(TUBGCP6):c.5181G>A:p.Thr1727=	coding	Benign
22	50218108	G	A	G50218108A	TUBGCP6	NM_020461.4(TUBGCP6):c.5178C>T:p.Leu1726=	coding	Benign
22	50218218	G	A	G50218218A	TUBGCP6	NM_020461.4(TUBGCP6):c.5139C>T:p.His1713=	coding	Benign/Likely_benign
22	50218305	G	A	G50218305A	TUBGCP6	NM_020461.4(TUBGCP6):c.5052C>T:p.Ile1684=	coding	Benign
22	50218307	T	C	T50218307C	TUBGCP6	NM_020461.4(TUBGCP6):c.5050A>G:p.Ile1684Val	coding	Benign
22	50218513	G	A	G50218513A	TUBGCP6	NM_020461.4(TUBGCP6):c.4929C>T:p.Asp1643=	coding	Benign
22	50218567	G	A	G50218567A	TUBGCP6	NM_020461.4(TUBGCP6):c.4875C>T:p.Ser1625=	coding	Benign
22	50218760	G	A	G50218760A	TUBGCP6	NM_020461.4(TUBGCP6):c.4764C>T:p.Pro1588=	coding	Benign
22	50218796	G	A	G50218796A	TUBGCP6	NM_020461.4(TUBGCP6):c.4728C>T:p.His1576=	coding	Benign
22	50218876	C	A	C50218876A	TUBGCP6	NM_020461.4(TUBGCP6):c.4648G>T:p.Gly1550Ter	coding	Pathogenic
22	50219182	G	A	G50219182A	TUBGCP6	NM_020461.4(TUBGCP6):c.4512C>T:p.Val1504=	coding	Benign
22	50219293	G	A	G50219293A	TUBGCP6	NM_020461.4(TUBGCP6):c.4479C>T:p.Ala1493=	coding	Benign
22	50219374	G	A	G50219374A	TUBGCP6	NM_020461.4(TUBGCP6):c.4398C>T:p.Ala1466=	coding	Benign
22	50219425	G	A	G50219425A	TUBGCP6	NM_020461.4(TUBGCP6):c.4347C>T:p.Pro1449=	coding	Benign
22	50219446	G	A	G50219446A	TUBGCP6	NM_020461.4(TUBGCP6):c.4326C>T:p.Pro1442=	coding	Benign
22	50219455	G	A	G50219455A	TUBGCP6	NM_020461.4(TUBGCP6):c.4317C>T:p.Ser1439=	coding	Benign
22	50219455	G	T	G50219455T	TUBGCP6	NM_020461.4(TUBGCP6):c.4317C>A:p.Ser1439=	coding	Benign
22	50219624	A	G	A50219624G	TUBGCP6	NM_020461.4(TUBGCP6):c.4315+20T>C	noncoding	Benign
22	50219736	G	A	G50219736A	TUBGCP6	NM_020461.4(TUBGCP6):c.4223C>T:p.Ala1408Val	coding	Benign
22	50219738	C	T	C50219738T	TUBGCP6	NM_020461.4(TUBGCP6):c.4221G>A:p.Ser1407=	coding	Benign
22	50219774	C	A	C50219774A	TUBGCP6	NM_020461.4(TUBGCP6):c.4185G>T:p.Gln1395His	coding	Benign
22	50219995	T	C	T50219995C	TUBGCP6	NM_020461.4(TUBGCP6):c.4129A>G:p.Thr1377Ala	coding	Benign
22	50220627	G	A	G50220627A	TUBGCP6	NM_020461.4(TUBGCP6):c.3732C>T:p.His1244=	coding	Benign/Likely_benign
22	50220708	A	G	A50220708G	TUBGCP6	NM_020461.4(TUBGCP6):c.3651T>C:p.His1217=	coding	Benign/Likely_benign
22	50220794	C	A	C50220794A	TUBGCP6	NM_020461.4(TUBGCP6):c.3565G>T:p.Gly1189Ter	coding	Pathogenic
22	50220863	C	T	C50220863T	TUBGCP6	NM_020461.4(TUBGCP6):c.3496G>A:p.Asp1166Asn	coding	Benign
22	50220886	C	T	C50220886T	TUBGCP6	NM_020461.4(TUBGCP6):c.3473G>A:p.Trp1158Ter	coding	Pathogenic
22	50220900	G	A	G50220900A	TUBGCP6	NM_020461.4(TUBGCP6):c.3459C>T:p.Pro1153=	coding	Benign
22	50221052	G	A	G50221052A	TUBGCP6	NM_020461.4(TUBGCP6):c.3307C>T:p.Arg1103Trp	coding	Benign/Likely_benign
22	50221119	G	A	G50221119A	TUBGCP6	NM_020461.4(TUBGCP6):c.3240C>T:p.His1080=	coding	Benign
22	50221170	G	C	G50221170C	TUBGCP6	NM_020461.4(TUBGCP6):c.3189C>G:p.Val1063=	coding	Benign
22	50221196	G	A	G50221196A	TUBGCP6	NM_020461.4(TUBGCP6):c.3163C>T:p.His1055Tyr	coding	Pathogenic
22	50221267	C	G	C50221267G	TUBGCP6	NM_020461.4(TUBGCP6):c.3092G>C:p.Gly1031Ala	coding	Benign
22	50221368	G	A	G50221368A	TUBGCP6	NM_020461.4(TUBGCP6):c.2991C>T:p.Ser997=	coding	Benign/Likely_benign
22	50221785	C	G	C50221785G	TUBGCP6	NM_020461.4(TUBGCP6):c.2574G>C:p.Trp858Cys	coding	Benign/Likely_benign
22	50221813	T	C	T50221813C	TUBGCP6	NM_020461.4(TUBGCP6):c.2546A>G:p.Glu849Gly	coding	Pathogenic
22	50221869	C	G	C50221869G	TUBGCP6	NM_020461.4(TUBGCP6):c.2490G>C:p.Thr830=	coding	Benign
22	50221872	G	C	G50221872C	TUBGCP6	NM_020461.4(TUBGCP6):c.2487C>G:p.Val829=	coding	Benign/Likely_benign
22	50222507	G	A	G50222507A	TUBGCP6	NM_020461.4(TUBGCP6):c.2356C>T:p.Arg786Ter	coding	Pathogenic
22	50224196	G	A	G50224196A	TUBGCP6	NM_020461.4(TUBGCP6):c.2215C>T:p.Arg739Ter	coding	Pathogenic
22	50224555	G	A	G50224555A	TUBGCP6	NM_020461.4(TUBGCP6):c.2021C>T:p.Ala674Val	coding	Benign/Likely_benign
22	50226049	C	T	C50226049T	TUBGCP6	NM_020461.4(TUBGCP6):c.1833+1G>A	noncoding	Pathogenic
22	50226183	A	G	A50226183G	TUBGCP6	NM_020461.4(TUBGCP6):c.1700T>C:p.Leu567Ser	coding	Benign
22	50226368	C	T	C50226368T	TUBGCP6	NM_020461.4(TUBGCP6):c.1612G>A:p.Asp538Asn	coding	Benign
22	50226369	G	A	G50226369A	TUBGCP6	NM_020461.4(TUBGCP6):c.1611C>T:p.His537=	coding	Benign
22	50227047	A	G	A50227047G	TUBGCP6	NM_020461.4(TUBGCP6):c.1443T>C:p.Ala481=	coding	Benign
22	50228034	G	A	G50228034A	TUBGCP6	NM_020461.4(TUBGCP6):c.1291-6C>T	noncoding	Benign
22	50229576	G	A	G50229576A	TUBGCP6	NM_020461.4(TUBGCP6):c.1118C>T:p.Pro373Leu	coding	Benign/Likely_benign
22	50240214	G	A	G50240214A	TUBGCP6	NM_020461.4(TUBGCP6):c.895C>T:p.Arg299Ter	coding	Pathogenic
22	50240272	G	A	G50240272A	TUBGCP6	NM_020461.4(TUBGCP6):c.837C>T:p.Asp279=	coding	Benign
22	50243922	G	A	G50243922A	TUBGCP6	NM_020461.4(TUBGCP6):c.538C>T:p.Gln180Ter	coding	Pathogenic
22	50244149	A	G	A50244149G	TUBGCP6	NM_020461.4(TUBGCP6):c.311T>C:p.Leu104Pro	coding	Benign
22	50244418	G	T	G50244418T	TUBGCP6	NM_020461.4(TUBGCP6):c.42C>A:p.Ala14=	coding	Benign
22	50244436	G	A	G50244436A	TUBGCP6	NM_020461.4(TUBGCP6):c.24C>T:p.Phe8=	coding	Benign
22	50266618	G	A	G50266618A	MAPK11	NM_002751.7(MAPK11):c.611-7C>T	noncoding	Benign
22	50281431	C	T	C50281431T	PLXNB2	NM_012401.4(PLXNB2):c.3591G>A:p.Pro1197=	coding	Benign
22	50281866	G	A	G50281866A	PLXNB2	NM_012401.4(PLXNB2):c.3333C>T:p.Leu1111=	coding	Benign
22	50282867	G	A	G50282867A	PLXNB2	NM_012401.4(PLXNB2):c.2831C>T:p.Ala944Val	coding	Benign
22	50283848	C	T	C50283848T	PLXNB2	NM_012401.4(PLXNB2):c.2406G>A:p.Pro802=	coding	Benign
22	50289083	G	A	G50289083A	PLXNB2	NM_012401.4(PLXNB2):c.1128C>T:p.Arg376=	coding	Benign
22	50289739	G	A	G50289739A	PLXNB2	NM_012401.4(PLXNB2):c.846C>T:p.Ala282=	coding	Benign
22	50447199	G	A	G50447199A	SBF1	NM_002972.4(SBF1):c.5625C>T:p.Asp1875=	coding	Benign
22	50447220	A	G	A50447220G	SBF1	NM_002972.4(SBF1):c.5604T>C:p.Val1868=	coding	Benign/Likely_benign
22	50447346	A	G	A50447346G	SBF1	NM_002972.4(SBF1):c.5559T>C:p.Thr1853=	coding	Benign
22	50447366	T	C	T50447366C	SBF1	NM_002972.4(SBF1):c.5539A>G:p.Thr1847Ala	coding	Benign
22	50447442	G	A	G50447442A	SBF1	NM_002972.4(SBF1):c.5463C>T:p.Tyr1821=	coding	Benign
22	50448585	C	T	C50448585T	SBF1	NM_002972.4(SBF1):c.5109G>A:p.Arg1703=	coding	Benign
22	50454722	G	A	G50454722A	SBF1	NM_002972.4(SBF1):c.4833C>T:p.Asn1611=	coding	Benign
22	50454760	G	A	G50454760A	SBF1	NM_002972.4(SBF1):c.4813-18C>T	noncoding	Benign
22	50455257	G	A	G50455257A	SBF1	NM_002972.4(SBF1):c.4521C>T:p.Pro1507=	coding	Benign/Likely_benign
22	50456558	G	A	G50456558A	SBF1	NM_002972.4(SBF1):c.4020C>T:p.Pro1340=	coding	Benign
22	50456564	G	T	G50456564T	SBF1	NM_002972.4(SBF1):c.4014C>A:p.Gly1338=	coding	Benign
22	50456591	C	T	C50456591T	SBF1	NM_002972.4(SBF1):c.3987G>A:p.Ala1329=	coding	Benign
22	50457029	G	C	G50457029C	SBF1	NM_002972.4(SBF1):c.3904+5C>G	noncoding	Benign/Likely_benign
22	50457082	G	A	G50457082A	SBF1	NM_002972.4(SBF1):c.3856C>T:p.Leu1286=	coding	Benign
22	50457115	A	G	A50457115G	SBF1	NM_002972.4(SBF1):c.3827-4T>C	noncoding	Benign
22	50457117	G	A	G50457117A	SBF1	NM_002972.4(SBF1):c.3827-6C>T	noncoding	Benign
22	50459263	C	T	C50459263T	SBF1	NM_002972.4(SBF1):c.3818G>A:p.Gly1273Asp	coding	Benign
22	50459492	C	T	C50459492T	SBF1	NM_002972.4(SBF1):c.3666G>A:p.Lys1222=	coding	Benign/Likely_benign
22	50460040	G	A	G50460040A	SBF1	NM_002972.4(SBF1):c.3403C>T:p.Leu1135=	coding	Benign
22	50460104	G	A	G50460104A	SBF1	NM_002972.4(SBF1):c.3339C>T:p.Ser1113=	coding	Benign
22	50460134	C	T	C50460134T	SBF1	NM_002972.4(SBF1):c.3309G>A:p.Thr1103=	coding	Benign
22	50460674	G	A	G50460674A	SBF1	NM_002972.4(SBF1):c.3006C>T:p.Asp1002=	coding	Benign
22	50461632	C	T	C50461632T	SBF1	NM_002972.4(SBF1):c.2730G>A:p.Glu910=	coding	Benign
22	50461650	C	G	C50461650G	SBF1	NM_002972.4(SBF1):c.2712G>C:p.Leu904=	coding	Benign
22	50462231	G	A	G50462231A	SBF1	NM_002972.4(SBF1):c.2370C>T:p.Ser790=	coding	Benign
22	50462426	G	A	G50462426A	SBF1	NM_002972.4(SBF1):c.2175C>T:p.Asp725=	coding	Benign
22	50462555	G	A	G50462555A	SBF1	NM_002972.4(SBF1):c.2127+4C>T	noncoding	Benign/Likely_benign
22	50462607	G	A	G50462607A	SBF1	NM_002972.4(SBF1):c.2079C>T:p.His693=	coding	Benign
22	50462706	C	T	C50462706T	SBF1	NM_002972.4(SBF1):c.1980G>A:p.Pro660=	coding	Benign
22	50462891	A	T	A50462891T	SBF1	NM_002972.4(SBF1):c.1947T>A:p.Pro649=	coding	Benign
22	50463310	G	A	G50463310A	SBF1	NM_002972.4(SBF1):c.1872C>T:p.Val624=	coding	Benign
22	50463379	G	A	G50463379A	SBF1	NM_002972.4(SBF1):c.1803C>T:p.Leu601=	coding	Benign/Likely_benign
22	50464410	A	G	A50464410G	SBF1	NM_002972.4(SBF1):c.1668T>C:p.His556=	coding	Benign
22	50464600	T	A	T50464600A	SBF1	NM_002972.4(SBF1):c.1570A>T:p.Met524Leu	coding	Benign
22	50465205	G	A	G50465205A	SBF1	NM_002972.4(SBF1):c.1203+10C>T	noncoding	Benign
22	50465323	C	T	C50465323T	SBF1	NM_002972.4(SBF1):c.1095G>A:p.Lys365=	coding	Benign
22	50465794	G	A	G50465794A	SBF1	NM_002972.4(SBF1):c.1058C>T:p.Pro353Leu	coding	Benign
22	50465796	C	T	C50465796T	SBF1	NM_002972.4(SBF1):c.1056G>A:p.Pro352=	coding	Benign
22	50466645	G	A	G50466645A	SBF1	NM_002972.4(SBF1):c.615C>T:p.Pro205=	coding	Benign/Likely_benign
22	50466657	G	A	G50466657A	SBF1	NM_002972.4(SBF1):c.603C>T:p.Ala201=	coding	Benign
22	50467674	T	G	T50467674G	SBF1	NM_002972.4(SBF1):c.296A>C:p.Glu99Ala	coding	Benign
22	50468466	G	A	G50468466A	SBF1	NM_002972.4(SBF1):c.56-5C>T	noncoding	Benign
22	50482703	C	A	C50482703A	ADM2	NM_001253845.2(ADM2):c.247C>A:p.Arg83=	coding	Benign
22	50488037	A	G	A50488037G	MIOX	NM_017584.6(MIOX):c.329A>G:p.His110Arg	coding	Benign
22	50489527	C	T	C50489527T	MIOX	NM_017584.6(MIOX):c.637-5C>T	noncoding	Benign
22	50518686	C	T	C50518686T	NCAPH2	NM_152299.4(NCAPH2):c.684C>T:p.Ser228=	coding	Benign
22	50522362	G	A	G50522362A	NCAPH2	NM_152299.4(NCAPH2):c.1253G>A:p.Arg418Gln	coding	Benign
22	50522559	C	T	C50522559T	NCAPH2	NM_152299.4(NCAPH2):c.1365C>T:p.Ala455=	coding	Benign
22	50523636	G	A	G50523636A	TYMP;SCO2;NCAPH2	NM_152299.4(NCAPH2):c.*261G>A	coding	Benign/Likely_benign
22	50523738	G	A	G50523738A	SCO2	NM_152299.4(NCAPH2):c.*363G>A	coding	Pathogenic
22	50523779	T	G	T50523779G	TYMP;SCO2;NCAPH2	NM_005138.3(SCO2):c.633A>C:p.Ala211=	coding	Benign
22	50523830	G	A	G50523830A	TYMP;SCO2;NCAPH2	NM_152299.4(NCAPH2):c.*455G>A	coding	Benign/Likely_benign
22	50523875	G	C	G50523875C	SCO2	NM_152299.4(NCAPH2):c.*500G>C	coding	Benign/Likely_benign
22	50523901	G	A	G50523901A	SCO2	NM_152299.4(NCAPH2):c.*526G>A	coding	Pathogenic
22	50523956	T	A	T50523956A	SCO2	NM_005138.3(SCO2):c.456A>T:p.Glu152Asp	coding	Benign
22	50523994	C	T	C50523994T	SCO2	NM_152299.4(NCAPH2):c.*619C>T	coding	Pathogenic
22	50524014	C	T	C50524014T	SCO2	NM_152299.4(NCAPH2):c.*639C>T	coding	Pathogenic
22	50524085	G	A	G50524085A	TYMP;SCO2;NCAPH2	NM_152299.4(NCAPH2):c.*710G>A	coding	Benign/Likely_benign
22	50524144	G	A	G50524144A	SCO2	NM_152299.4(NCAPH2):c.*769G>A	coding	Pathogenic
22	50524255	G	A	G50524255A	SCO2	NM_152299.4(NCAPH2):c.*880G>A	coding	Pathogenic
22	50524305	C	T	C50524305T	SCO2	NM_152299.4(NCAPH2):c.*930C>T	coding	Pathogenic
22	50524353	C	G	C50524353G	TYMP;SCO2;NCAPH2	NM_005138.3(SCO2):c.59G>C:p.Arg20Pro	coding	Benign
22	50525476	C	T	C50525476T	TYMP;SCO2	NM_005138.3(SCO2):c.-18G>A	noncoding	Benign
22	50525536	C	G	C50525536G	SCO2;TYMP	NM_005138.3(SCO2):c.-78G>C	noncoding	Benign
22	50525807	G	A	G50525807A	SCO2;TYMP	NM_001953.5(TYMP):c.1412C>T:p.Ser471Leu	coding	Benign
22	50525807	G	T	G50525807T	TYMP	NM_001953.5(TYMP):c.1412C>A:p.Ser471Ter	coding	Pathogenic
22	50525826	C	T	C50525826T	TYMP;SCO2	NM_001953.5(TYMP):c.1393G>A:p.Ala465Thr	coding	Benign/Likely_benign
22	50525859	C	G	C50525859G	TYMP	NM_001953.5(TYMP):c.1360G>C:p.Ala454Pro	coding	Pathogenic
22	50525908	C	T	C50525908T	TYMP	NM_001953.5(TYMP):c.1311G>A:p.Trp437Ter	coding	Pathogenic
22	50525919	C	T	C50525919T	TYMP	NM_001953.5(TYMP):c.1301-1G>A	coding	Pathogenic
22	50525999	A	T	A50525999T	TYMP	NM_001953.5(TYMP):c.1300+2T>A	noncoding	Pathogenic
22	50526000	C	T	C50526000T	TYMP	NM_001953.5(TYMP):c.1300+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	50526006	C	T	C50526006T	TYMP	NM_001953.5(TYMP):c.1295G>A:p.Arg432His	coding	Benign
22	50526017	A	T	A50526017T	TYMP;SCO2	NM_001953.5(TYMP):c.1284T>A:p.Gly428=	coding	Benign
22	50526019	C	T	C50526019T	TYMP	NM_001953.5(TYMP):c.1282G>A:p.Gly428Ser	coding	Pathogenic
22	50526112	G	A	G50526112A	TYMP	NM_001953.5(TYMP):c.1189C>T:p.Leu397=	coding	Benign
22	50526141	C	T	C50526141T	TYMP	NM_001953.5(TYMP):c.1160G>A:p.Gly387Asp	coding	Pathogenic
22	50526142	C	G	C50526142G	TYMP	NM_001953.5(TYMP):c.1160-1G>C	coding	Pathogenic
22	50526142	C	T	C50526142T	TYMP	NM_001953.5(TYMP):c.1160-1G>A	coding	Pathogenic
22	50526143	T	C	T50526143C	TYMP	NM_001953.5(TYMP):c.1160-2A>G	coding	Pathogenic
22	50526143	T	G	T50526143G	TYMP	NM_001953.5(TYMP):c.1160-2A>C	coding	Pathogenic
22	50526189	C	T	C50526189T	TYMP	NM_001953.5(TYMP):c.1160-48G>A	noncoding	Benign
22	50526234	C	T	C50526234T	TYMP	NM_001953.5(TYMP):c.1159+12G>A	noncoding	Benign
22	50526244	A	T	A50526244T	TYMP	NM_001953.5(TYMP):c.1159+2T>A	noncoding	Pathogenic
22	50526245	C	T	C50526245T	TYMP	NM_001953.5(TYMP):c.1159+1G>A	noncoding	Pathogenic
22	50526246	C	T	C50526246T	TYMP	NM_001953.5(TYMP):c.1159G>A:p.Gly387Ser	coding	Pathogenic
22	50526278	C	T	C50526278T	TYMP	NM_001953.5(TYMP):c.1127G>A:p.Arg376Gln	coding	Benign/Likely_benign
22	50526293	A	G	A50526293G	TYMP	NM_001953.5(TYMP):c.1112T>C:p.Leu371Pro	coding	Pathogenic
22	50526331	T	C	T50526331C	TYMP	NM_001953.5(TYMP):c.1074A>G:p.Arg358=	coding	Benign
22	50526334	G	A	G50526334A	TYMP	NM_001953.5(TYMP):c.1071C>T:p.Ala357=	coding	Benign/Likely_benign
22	50526338	A	G	A50526338G	TYMP	NM_001953.5(TYMP):c.1067T>C:p.Leu356Pro	coding	Pathogenic
22	50526357	G	A	G50526357A	TYMP	NM_001953.5(TYMP):c.1048C>T:p.Gln350Ter	coding	Pathogenic
22	50526433	G	A	G50526433A	TYMP;SCO2	NM_001953.5(TYMP):c.972C>T:p.Ala324=	coding	Benign
22	50526439	A	G	A50526439G	TYMP	NM_001953.5(TYMP):c.966T>C:p.Thr322=	coding	Benign
22	50526460	C	T	C50526460T	TYMP	NM_001953.5(TYMP):c.945G>A:p.Trp315Ter	coding	Pathogenic
22	50526467	A	G	A50526467G	TYMP	NM_001953.5(TYMP):c.938T>C:p.Leu313Pro	coding	Pathogenic
22	50526474	C	A	C50526474A	TYMP	NM_001953.5(TYMP):c.931G>T:p.Gly311Cys	coding	Pathogenic
22	50526474	C	G	C50526474G	TYMP	NM_001953.5(TYMP):c.931G>C:p.Gly311Arg	coding	Pathogenic
22	50526474	C	T	C50526474T	TYMP	NM_001953.5(TYMP):c.931G>A:p.Gly311Ser	coding	Pathogenic
22	50526575	C	T	C50526575T	TYMP	NM_001257988.1(TYMP):c.928+1G>A	noncoding	Pathogenic
22	50526611	C	T	C50526611T	TYMP	NM_001953.5(TYMP):c.893G>A:p.Gly298Asp	coding	Pathogenic
22	50526638	T	G	T50526638G	TYMP	NM_001953.5(TYMP):c.866A>C:p.Glu289Ala	coding	Pathogenic
22	50526639	C	T	C50526639T	TYMP	NM_001953.5(TYMP):c.865G>A:p.Glu289Lys	coding	Pathogenic
22	50526648	C	T	C50526648T	TYMP	NM_001953.5(TYMP):c.856G>A:p.Glu286Lys	coding	Pathogenic
22	50526650	A	G	A50526650G	TYMP	NM_001953.5(TYMP):c.854T>C:p.Leu285Pro	coding	Pathogenic
22	50526657	G	C	G50526657C	TYMP	NM_001953.5(TYMP):c.847C>G:p.His283Asp	coding	Pathogenic
22	50526673	C	T	C50526673T	TYMP;SCO2	NM_001953.5(TYMP):c.831G>A:p.Leu277=	coding	Benign/Likely_benign
22	50527170	T	G	T50527170G	TYMP	NM_001953.5(TYMP):c.760A>C:p.Thr254Pro	coding	Pathogenic
22	50527215	C	T	C50527215T	TYMP	NM_001953.5(TYMP):c.715G>A:p.Ala239Thr	coding	Pathogenic
22	50527221	C	A	C50527221A	TYMP	NM_001953.5(TYMP):c.709G>T:p.Gly237Ter	coding	Pathogenic
22	50527223	A	G	A50527223G	TYMP	NM_001953.5(TYMP):c.707T>C:p.Phe236Ser	coding	Pathogenic
22	50527283	G	A	G50527283A	TYMP	NM_001953.5(TYMP):c.647C>T:p.Ala216Val	coding	Benign
22	50527606	T	G	T50527606G	TYMP	NM_001953.5(TYMP):c.628A>C:p.Ser210Arg	coding	Pathogenic
22	50527611	A	C	A50527611C	TYMP	NM_001953.5(TYMP):c.623T>G:p.Val208Gly	coding	Pathogenic
22	50527612	C	T	C50527612T	TYMP	NM_001953.5(TYMP):c.622G>A:p.Val208Met	coding	Pathogenic/Likely_pathogenic
22	50527629	C	G	C50527629G	TYMP	NM_001953.5(TYMP):c.605G>C:p.Arg202Thr	coding	Pathogenic
22	50527629	C	T	C50527629T	TYMP	NM_001953.5(TYMP):c.605G>A:p.Arg202Lys	coding	Pathogenic
22	50527648	C	A	C50527648A	TYMP	NM_001953.5(TYMP):c.586G>T:p.Gly196Ter	coding	Pathogenic
22	50527704	A	G	A50527704G	TYMP	NM_001953.5(TYMP):c.530T>C:p.Leu177Pro	coding	Pathogenic
22	50527714	G	A	G50527714A	TYMP	NM_001953.5(TYMP):c.520C>T:p.Gln174Ter	coding	Pathogenic
22	50527716	A	C	A50527716C	TYMP	NM_001953.5(TYMP):c.518T>G:p.Met173Arg	coding	Pathogenic
22	50528344	C	A	C50528344A	TYMP	NM_001953.5(TYMP):c.516+168G>T	noncoding	Benign
22	50528485	T	C	T50528485C	TYMP	NM_001953.5(TYMP):c.516+27A>G	noncoding	Benign
22	50528503	G	A	G50528503A	TYMP	NM_001257988.1(TYMP):c.516+9C>T	noncoding	Benign
22	50528510	A	G	A50528510G	TYMP	NM_001257988.1(TYMP):c.516+2T>C	noncoding	Pathogenic
22	50528510	A	T	A50528510T	TYMP	NM_001257988.1(TYMP):c.516+2T>A	noncoding	Pathogenic
22	50528550	A	G	A50528550G	TYMP	NM_001953.5(TYMP):c.478T>C:p.Ser160Pro	coding	Pathogenic
22	50528561	T	C	T50528561C	TYMP	NM_001953.5(TYMP):c.467A>G:p.Asp156Gly	coding	Pathogenic
22	50528840	A	G	A50528840G	TYMP	NM_001953.5(TYMP):c.418-230T>C	noncoding	Benign
22	50529152	G	T	G50529152T	TYMP	NM_001953.5(TYMP):c.401C>A:p.Ala134Glu	coding	Pathogenic
22	50529155	A	G	A50529155G	TYMP	NM_001953.5(TYMP):c.398T>C:p.Leu133Pro	coding	Pathogenic
22	50529213	C	T	C50529213T	TYMP	NM_001953.5(TYMP):c.340G>A:p.Asp114Asn	coding	Pathogenic
22	50529225	G	A	G50529225A	TYMP	NM_001953.5(TYMP):c.328C>T:p.Gln110Ter	coding	Pathogenic
22	50529278	G	T	G50529278T	TYMP	NM_001953.5(TYMP):c.275C>A:p.Thr92Asn	coding	Pathogenic
22	50529292	C	A	C50529292A	TYMP	NM_001953.5(TYMP):c.261G>T:p.Glu87Asp	coding	Pathogenic
22	50529292	C	G	C50529292G	TYMP	NM_001953.5(TYMP):c.261G>C:p.Glu87Asp	coding	Pathogenic
22	50529325	C	T	C50529325T	TYMP	NM_001953.5(TYMP):c.228G>A:p.Met76Ile	coding	Pathogenic
22	50529339	C	G	C50529339G	TYMP	NM_001953.5(TYMP):c.215-1G>C	coding	Pathogenic
22	50529483	C	T	C50529483T	TYMP	NM_001953.5(TYMP):c.214+13G>A	noncoding	Benign
22	50529506	G	A	G50529506A	TYMP	NM_001953.5(TYMP):c.204C>T:p.Gly68=	coding	Benign
22	50529516	C	T	C50529516T	TYMP	NM_001953.5(TYMP):c.194G>A:p.Ser65Asn	coding	Benign
22	50529548	G	C	G50529548C	TYMP	NM_001953.5(TYMP):c.162C>G:p.Ile54Met	coding	Pathogenic
22	50529564	A	C	A50529564C	TYMP	NM_001953.5(TYMP):c.146T>G:p.Leu49Arg	coding	Pathogenic
22	50529579	C	T	C50529579T	TYMP	NM_001953.5(TYMP):c.131G>A:p.Arg44Gln	coding	Pathogenic
22	50529582	T	G	T50529582G	TYMP	NM_001953.5(TYMP):c.128A>C:p.Lys43Thr	coding	Pathogenic
22	50529598	C	A	C50529598A	TYMP	NM_001953.5(TYMP):c.112G>T:p.Glu38Ter	coding	Pathogenic
22	50569347	G	C	G50569347C	CPT1B	NM_152246.3(CPT1B):c.2310C>G:p.Ala770=	coding	Benign
22	50572239	C	T	C50572239T	CPT1B	NM_152246.3(CPT1B):c.1422G>A:p.Ala474=	coding	Benign
22	50572314	G	A	G50572314A	CPT1B	NM_152246.3(CPT1B):c.1353-6C>T	noncoding	Benign
22	50574574	G	A	G50574574A	CPT1B	NM_152246.3(CPT1B):c.804C>T:p.Asp268=	coding	Benign
22	50578965	G	C	G50578965C	CHKB	NM_005198.4(CHKB):c.*216C>G	noncoding	Benign
22	50579047	A	G	A50579047G	CHKB	NM_005198.4(CHKB):c.*134T>C	noncoding	Benign
22	50579085	C	G	C50579085G	CHKB	NM_005198.4(CHKB):c.*96G>C	noncoding	Benign
22	50579240	G	A	G50579240A	CHKB	NM_005198.4(CHKB):c.1129C>T:p.Arg377Trp	coding	Pathogenic
22	50579979	G	A	G50579979A	CHKB	NM_005198.4(CHKB):c.922C>T:p.Gln308Ter	coding	Pathogenic
22	50580198	A	T	A50580198T	CHKB	NM_005198.4(CHKB):c.810T>A:p.Tyr270Ter	coding	Pathogenic
22	50580278	G	A	G50580278A	CHKB	NM_005198.4(CHKB):c.737-7C>T	noncoding	Benign/Likely_benign
22	50580482	C	T	C50580482T	CHKB	NM_005198.4(CHKB):c.678-66G>A	noncoding	Benign
22	50580513	C	A	C50580513A	CHKB	NM_005198.4(CHKB):c.677+52G>T	noncoding	Benign
22	50580564	C	T	C50580564T	CHKB	NM_005198.4(CHKB):c.677+1G>A	noncoding	Pathogenic
22	50580684	A	C	A50580684C	CHKB	NM_005198.4(CHKB):c.582-24T>G	noncoding	Benign
22	50580713	G	T	G50580713T	CHKB	NM_005198.4(CHKB):c.582-53C>A	noncoding	Benign
22	50581640	G	C	G50581640C	CHKB	NM_005198.4(CHKB):c.448-87C>G	noncoding	Benign
22	50581796	G	A	G50581796A	CHKB	NM_005198.4(CHKB):c.400C>T:p.Gln134Ter	coding	Pathogenic
22	50581814	C	A	C50581814A	CHKB	NM_005198.4(CHKB):c.382G>T:p.Glu128Ter	coding	Pathogenic
22	50582239	C	A	C50582239A	CHKB	NM_005198.4(CHKB):c.333+10G>T	noncoding	Benign
22	50582333	G	A	G50582333A	CHKB	NM_005198.4(CHKB):c.249C>T:p.Phe83=	coding	Benign/Likely_benign
22	50582566	G	A	G50582566A	CHKB	NM_005198.4(CHKB):c.216C>T:p.Tyr72=	coding	Benign
22	50582631	G	A	G50582631A	CHKB	NM_005198.4(CHKB):c.151C>T:p.Gln51Ter	coding	Pathogenic/Likely_pathogenic
22	50582633	T	C	T50582633C	CHKB	NM_005198.4(CHKB):c.149A>G:p.Tyr50Cys	coding	Benign/Likely_benign
22	50582666	G	T	G50582666T	CHKB	NM_005198.4(CHKB):c.116C>A:p.Ser39Ter	coding	Pathogenic
22	50582800	C	A	C50582800A	CHKB	NM_005198.4(CHKB):c.-19G>T	noncoding	Benign
22	50582808	C	T	C50582808T	CHKB	NM_005198.4(CHKB):c.-27G>A	noncoding	Benign
22	50582829	C	A	C50582829A	CHKB	NM_005198.4(CHKB):c.-48G>T	noncoding	Benign/Likely_benign
22	50582878	C	G	C50582878G	CHKB	NM_005198.4(CHKB):c.-97G>C	noncoding	Benign
22	50583050	G	A	G50583050A	CHKB	NM_005198.4(CHKB):c.-269C>T	noncoding	Benign
22	50583150	A	C	A50583150C	CHKB	NM_005198.4(CHKB):c.-369T>G	noncoding	Benign
22	50583170	C	T	C50583170T	CHKB	NM_005198.4(CHKB):c.-389G>A	noncoding	Benign
22	50583334	G	C	G50583334C	CHKB	NM_005198.4(CHKB):c.-553C>G	noncoding	Benign
22	50604457	G	C	G50604457C	MAPK8IP2	NM_012324.6(MAPK8IP2):c.1158G>C:p.Pro386=	coding	Benign
22	50623376	T	C	T50623376C	ARSA	NM_000487.6(ARSA):c.*1769A>G	noncoding	Benign
22	50623399	C	T	C50623399T	ARSA	NM_000487.6(ARSA):c.*1746G>A	noncoding	Benign
22	50624404	G	A	G50624404A	ARSA	NM_000487.6(ARSA):c.*741C>T	noncoding	Benign
22	50624463	C	G	C50624463G	ARSA	NM_000487.6(ARSA):c.*682G>C	noncoding	Benign
22	50624510	C	T	C50624510T	ARSA	NM_000487.6(ARSA):c.*635G>A	noncoding	Benign
22	50624805	A	T	A50624805T	ARSA	NM_000487.6(ARSA):c.*340T>A	noncoding	Benign
22	50625182	C	T	C50625182T	ARSA	NM_000487.6(ARSA):c.1493G>A:p.Arg498His	coding	Benign/Likely_benign
22	50625213	G	A	G50625213A	ARSA	NM_000487.6(ARSA):c.1462C>T:p.Gln488Ter	coding	Pathogenic
22	50625297	G	A	G50625297A	ARSA	NM_000487.6(ARSA):c.1378C>T:p.Gln460Ter	coding	Pathogenic
22	50625309	G	A	G50625309A	ARSA	NM_000487.6(ARSA):c.1366C>T:p.Gln456Ter	coding	Pathogenic
22	50625392	G	A	G50625392A	ARSA	NM_000487.6(ARSA):c.1283C>T:p.Pro428Leu	coding	Pathogenic
22	50625396	G	T	G50625396T	ARSA	NM_000487.6(ARSA):c.1279C>A:p.Pro427Thr	coding	Pathogenic
22	50625401	T	C	T50625401C	ARSA	NM_000487.6(ARSA):c.1274A>G:p.His425Arg	coding	Pathogenic
22	50625446	G	A	G50625446A	ARSA	NM_000487.6(ARSA):c.1229C>T:p.Thr410Ile	coding	Pathogenic
22	50625559	G	C	G50625559C	ARSA	NM_000487.6(ARSA):c.1210+20C>G	noncoding	Benign
22	50625578	C	T	C50625578T	ARSA	NM_000487.6(ARSA):c.1210+1G>A	noncoding	Pathogenic
22	50625611	G	C	G50625611C	ARSA	NM_000487.6(ARSA):c.1178C>G:p.Thr393Ser	coding	Benign
22	50625639	C	T	C50625639T	ARSA	NM_000487.6(ARSA):c.1150G>A:p.Glu384Lys	coding	Pathogenic/Likely_pathogenic
22	50625640	G	A	G50625640A	ARSA	NM_000487.6(ARSA):c.1149C>T:p.Asp383=	coding	Benign
22	50625653	G	A	G50625653A	ARSA	NM_000487.6(ARSA):c.1136C>T:p.Pro379Leu	coding	Pathogenic
22	50625675	G	A	G50625675A	ARSA	NM_000487.6(ARSA):c.1114C>T:p.Arg372Trp	coding	Pathogenic/Likely_pathogenic
22	50625683	T	C	T50625683C	ARSA	NM_000487.6(ARSA):c.1108-2A>G	noncoding	Pathogenic
22	50625964	A	G	A50625964G	ARSA	NM_000487.6(ARSA):c.1079T>C:p.Leu360Pro	coding	Pathogenic
22	50626033	T	A	T50626033A	ARSA	NM_000487.6(ARSA):c.1010A>T:p.Asp337Val	coding	Pathogenic/Likely_pathogenic
22	50626036	A	G	A50626036G	ARSA	NM_000487.6(ARSA):c.1007T>C:p.Leu336Pro	coding	Pathogenic
22	50626041	G	A	G50626041A	ARSA	NM_000487.6(ARSA):c.1002C>T:p.Ser334=	coding	Benign/Likely_benign
22	50626052	C	A	C50626052A	ARSA	NM_000487.6(ARSA):c.991G>T:p.Glu331Ter	coding	Pathogenic/Likely_pathogenic
22	50626057	G	A	G50626057A	ARSA	NM_000487.6(ARSA):c.986C>T:p.Thr329Ile	coding	Pathogenic/Likely_pathogenic
22	50626154	C	T	C50626154T	ARSA	NM_000487.6(ARSA):c.979G>A:p.Gly327Ser	coding	Pathogenic
22	50626161	G	A	G50626161A	ARSA	NM_000487.6(ARSA):c.972C>T:p.Ile324=	coding	Benign
22	50626173	C	T	C50626173T	ARSA	NM_000487.6(ARSA):c.960G>A:p.Trp320Ter	coding	Pathogenic
22	50626196	G	A	G50626196A	ARSA	NM_000487.6(ARSA):c.937C>T:p.Arg313Ter	coding	Pathogenic
22	50626196	G	T	G50626196T	ARSA	NM_000487.6(ARSA):c.937C>A:p.Arg313=	coding	Benign
22	50626204	C	A	C50626204A	ARSA	NM_000487.6(ARSA):c.929G>T:p.Gly310Val	coding	Pathogenic
22	50626208	C	T	C50626208T	ARSA	NM_000487.6(ARSA):c.925G>A:p.Glu309Lys	coding	Pathogenic
22	50626228	C	A	C50626228A	ARSA	NM_000487.6(ARSA):c.905G>T:p.Cys302Phe	coding	Pathogenic
22	50626234	A	G	A50626234G	ARSA	NM_000487.6(ARSA):c.899T>C:p.Leu300Ser	coding	Pathogenic
22	50626243	G	T	G50626243T	ARSA	NM_000487.6(ARSA):c.890C>A:p.Ser297Tyr	coding	Pathogenic
22	50626250	C	T	C50626250T	ARSA	NM_000487.6(ARSA):c.883G>A:p.Gly295Ser	coding	Pathogenic/Likely_pathogenic
22	50626256	G	A	G50626256A	ARSA	NM_000487.6(ARSA):c.877C>T:p.Arg293Ter	coding	Pathogenic/Likely_pathogenic
22	50626264	C	T	C50626264T	ARSA	NM_000487.6(ARSA):c.869G>A:p.Arg290His	coding	Pathogenic/Likely_pathogenic
22	50626265	G	A	G50626265A	ARSA	NM_000487.6(ARSA):c.868C>T:p.Arg290Cys	coding	Pathogenic/Likely_pathogenic
22	50626271	T	G	T50626271G	ARSA	NM_000487.6(ARSA):c.862A>C:p.Thr288Pro	coding	Pathogenic
22	50626279	C	T	C50626279T	ARSA	NM_000487.6(ARSA):c.855-1G>A	coding	Pathogenic
22	50626590	C	A	C50626590A	ARSA	NM_000487.6(ARSA):c.854+1G>T	noncoding	Pathogenic
22	50626590	C	T	C50626590T	ARSA	NM_000487.6(ARSA):c.854+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	50626593	A	T	A50626593T	ARSA	NM_000487.6(ARSA):c.852T>A:p.Asn284Lys	coding	Pathogenic
22	50626618	G	A	G50626618A	ARSA	NM_000487.6(ARSA):c.827C>T:p.Thr276Met	coding	Pathogenic/Likely_pathogenic
22	50626676	C	G	C50626676G	ARSA	NM_000487.6(ARSA):c.769G>C:p.Asp257His	coding	Pathogenic
22	50626682	C	T	C50626682T	ARSA	NM_000487.6(ARSA):c.763G>A:p.Glu255Lys	coding	Pathogenic/Likely_pathogenic
22	50626699	A	G	A50626699G	ARSA	NM_000487.6(ARSA):c.746T>C:p.Phe249Ser	coding	Pathogenic
22	50626706	C	T	C50626706T	ARSA	NM_000487.6(ARSA):c.739G>A:p.Gly247Arg	coding	Pathogenic/Likely_pathogenic
22	50626708	C	T	C50626708T	ARSA	NM_000487.6(ARSA):c.737G>A:p.Arg246His	coding	Pathogenic/Likely_pathogenic
22	50626709	G	A	G50626709A	ARSA	NM_000487.6(ARSA):c.736C>T:p.Arg246Cys	coding	Pathogenic/Likely_pathogenic
22	50626733	G	A	G50626733A	ARSA	NM_000487.6(ARSA):c.712C>T:p.Gln238Ter	coding	Pathogenic
22	50626745	G	A	G50626745A	ARSA	NM_000487.6(ARSA):c.700C>T:p.Gln234Ter	coding	Pathogenic
22	50626748	G	T	G50626748T	ARSA	NM_000487.6(ARSA):c.697C>A:p.Pro233Thr	coding	Pathogenic
22	50626761	C	T	C50626761T	ARSA	NM_000487.6(ARSA):c.685-1G>A	coding	Pathogenic
22	50626833	C	T	C50626833T	ARSA	NM_000487.6(ARSA):c.684+1G>A	noncoding	Pathogenic
22	50626877	G	A	G50626877A	ARSA	NM_000487.6(ARSA):c.641C>T:p.Ala214Val	coding	Pathogenic
22	50626882	G	A	G50626882A	ARSA	NM_000487.6(ARSA):c.636C>T:p.Ala212=	coding	Benign/Likely_benign
22	50626894	A	G	A50626894G	ARSA	NM_000487.6(ARSA):c.624T>C:p.His208=	coding	Benign/Likely_benign
22	50626920	C	T	C50626920T	ARSA	NM_000487.6(ARSA):c.598G>A:p.Glu200Lys	coding	Benign
22	50626933	C	A	C50626933A	ARSA	NM_000487.6(ARSA):c.585G>T:p.Trp195Cys	coding	Benign
22	50626960	G	A	G50626960A	ARSA	NM_000487.6(ARSA):c.558C>T:p.Asn186=	coding	Benign
22	50626973	G	C	G50626973C	ARSA	NM_000487.6(ARSA):c.545C>G:p.Pro182Arg	coding	Pathogenic
22	50626976	A	C	A50626976C	ARSA	NM_000487.6(ARSA):c.542T>G:p.Ile181Ser	coding	Pathogenic
22	50626992	G	A	G50626992A	ARSA	NM_000487.6(ARSA):c.526C>T:p.Gln176Ter	coding	Pathogenic/Likely_pathogenic
22	50627012	G	C	G50627012C	ARSA	NM_000487.6(ARSA):c.506C>G:p.Pro169Arg	coding	Pathogenic
22	50627023	C	T	C50627023T	ARSA	NM_000487.6(ARSA):c.495G>A:p.Pro165=	coding	Benign
22	50627044	G	T	G50627044T	ARSA	NM_000487.6(ARSA):c.474C>A:p.Cys158Ter	coding	Pathogenic
22	50627048	G	C	G50627048C	ARSA	NM_000487.6(ARSA):c.470C>G:p.Pro157Arg	coding	Pathogenic
22	50627051	C	T	C50627051T	ARSA	NM_000487.6(ARSA):c.467G>A:p.Gly156Asp	coding	Pathogenic
22	50627165	C	T	C50627165T	ARSA	NM_000487.6(ARSA):c.465+1G>A	noncoding	Pathogenic
22	50627172	G	A	G50627172A	ARSA	NM_000487.6(ARSA):c.459C>T:p.His153=	coding	Benign
22	50627182	G	A	G50627182A	ARSA	NM_000487.6(ARSA):c.449C>T:p.Pro150Leu	coding	Pathogenic/Likely_pathogenic
22	50627198	G	A	G50627198A	ARSA	NM_000487.6(ARSA):c.433C>T:p.Arg145Ter	coding	Pathogenic
22	50627221	A	G	A50627221G	ARSA	NM_000487.6(ARSA):c.410T>C:p.Leu137Pro	coding	Pathogenic
22	50627253	C	T	C50627253T	ARSA	NM_000487.6(ARSA):c.378G>A:p.Trp126Ter	coding	Pathogenic
22	50627260	C	T	C50627260T	ARSA	NM_000487.6(ARSA):c.371G>A:p.Gly124Asp	coding	Pathogenic/Likely_pathogenic
22	50627285	G	A	G50627285A	ARSA	NM_000487.6(ARSA):c.346C>T:p.Arg116Ter	coding	Pathogenic
22	50627329	C	A	C50627329A	ARSA	NM_000487.6(ARSA):c.302G>T:p.Gly101Val	coding	Pathogenic
22	50627329	C	T	C50627329T	ARSA	NM_000487.6(ARSA):c.302G>A:p.Gly101Asp	coding	Pathogenic/Likely_pathogenic
22	50627368	C	T	C50627368T	ARSA	NM_000487.6(ARSA):c.263G>A:p.Gly88Asp	coding	Pathogenic
22	50627374	C	T	C50627374T	ARSA	NM_000487.6(ARSA):c.257G>A:p.Arg86Gln	coding	Pathogenic
22	50627388	G	A	G50627388A	ARSA	NM_000487.6(ARSA):c.243C>T:p.Gly81=	coding	Benign
22	50627402	C	G	C50627402G	ARSA	NM_000487.6(ARSA):c.229G>C:p.Ala77Pro	coding	Pathogenic
22	50627623	G	A	G50627623A	ARSA	NM_000487.6(ARSA):c.157C>T:p.Gln53Ter	coding	Pathogenic
22	50627682	A	G	A50627682G	ARSA	NM_000487.6(ARSA):c.98T>C:p.Leu33Pro	coding	Pathogenic
22	50628124	C	G	C50628124G	ARSA	NM_000487.6(ARSA):c.-345G>C	noncoding	Benign
22	50628493	G	A	G50628493A	ARSA	NC_000022.11:g.50628493G>A	noncoding	Benign
22	50676625	C	T	C50676625T	SHANK3	NM_033517.1(SHANK3):c.271C>T:p.Arg91Ter	coding	Pathogenic/Likely_pathogenic
22	50678666	C	G	C50678666G	SHANK3	NM_033517.1(SHANK3):c.421C>G:p.Pro141Ala	coding	Pathogenic
22	50679078	C	G	C50679078G	SHANK3	NM_033517.1(SHANK3):c.660C>G:p.Leu220=	coding	Benign
22	50679152	T	C	T50679152C	SHANK3	NM_033517.1(SHANK3):c.734T>C:p.Ile245Thr	coding	Benign
22	50683345	C	T	C50683345T	SHANK3	NM_033517.1(SHANK3):c.891C>T:p.Ser297=	coding	Benign
22	50684580	C	T	C50684580T	SHANK3	NM_033517.1(SHANK3):c.964-5C>T	noncoding	Benign
22	50694818	G	A	G50694818A	SHANK3	NM_033517.1(SHANK3):c.1074G>A:p.Leu358=	coding	Benign
22	50694989	C	T	C50694989T	SHANK3	NM_033517.1(SHANK3):c.1245C>T:p.Ala415=	coding	Benign
22	50698797	C	T	C50698797T	SHANK3	NM_033517.1(SHANK3):c.1606C>T:p.Arg536Trp	coding	Pathogenic
22	50704769	G	A	G50704769A	SHANK3	NM_033517.1(SHANK3):c.1803G>A:p.Thr601=	coding	Benign/Likely_benign
22	50706085	C	G	C50706085G	SHANK3	NM_033517.1(SHANK3):c.2043C>G:p.Pro681=	coding	Benign
22	50706146	G	T	G50706146T	SHANK3	NM_033517.1(SHANK3):c.2104G>T:p.Glu702Ter	coding	Pathogenic
22	50714943	G	A	G50714943A	SHANK3	NM_033517.1(SHANK3):c.2161G>A:p.Ala721Thr	coding	Benign
22	50715048	G	A	G50715048A	SHANK3	NM_033517.1(SHANK3):c.2265+1G>A	coding	Pathogenic/Likely_pathogenic
22	50715713	G	A	G50715713A	SHANK3	NM_033517.1(SHANK3):c.2310G>A:p.Pro770=	coding	Benign
22	50720183	G	C	G50720183C	SHANK3	NM_001372044.2(SHANK3):c.2541-1G>C	noncoding	Pathogenic
22	50720377	C	G	C50720377G	SHANK3	NM_033517.1(SHANK3):c.2544C>G:p.Tyr848Ter	coding	Pathogenic
22	50720446	C	G	C50720446G	SHANK3	NM_033517.1(SHANK3):c.2613C>G:p.Tyr871Ter	coding	Pathogenic
22	50720830	C	T	C50720830T	SHANK3	NM_033517.1(SHANK3):c.2997C>T:p.Tyr999=	coding	Benign
22	50720846	C	G	C50720846G	SHANK3	NM_033517.1(SHANK3):c.3013C>G:p.Pro1005Ala	coding	Benign
22	50720980	C	T	C50720980T	SHANK3	NM_033517.1(SHANK3):c.3147C>T:p.Pro1049=	coding	Benign
22	50721182	C	T	C50721182T	SHANK3	NM_033517.1(SHANK3):c.3349C>T:p.Arg1117Ter	coding	Pathogenic
22	50721196	C	T	C50721196T	SHANK3	NM_033517.1(SHANK3):c.3363C>T:p.Ser1121=	coding	Benign
22	50721368	A	T	A50721368T	SHANK3	NM_033517.1(SHANK3):c.3535A>T:p.Lys1179Ter	coding	Pathogenic
22	50721370	G	A	G50721370A	SHANK3	NM_033517.1(SHANK3):c.3537G>A:p.Lys1179=	coding	Benign
22	50721385	G	A	G50721385A	SHANK3	NM_001372044.2(SHANK3):c.3777G>A:p.Glu1259=	coding	Pathogenic
22	50721726	G	A	G50721726A	SHANK3	NM_033517.1(SHANK3):c.3893G>A:p.Arg1298Lys	coding	Benign/Likely_benign
22	50721740	C	T	C50721740T	SHANK3	NM_033517.1(SHANK3):c.3907C>T:p.Arg1303Ter	coding	Pathogenic
22	50722235	C	T	C50722235T	SHANK3	NM_033517.1(SHANK3):c.4402C>T:p.Gln1468Ter	coding	Pathogenic/Likely_pathogenic
22	50722279	G	A	G50722279A	SHANK3	NM_033517.1(SHANK3):c.4446G>A:p.Gly1482=	coding	Benign
22	50722298	G	T	G50722298T	SHANK3	NM_001372044.2(SHANK3):c.4690G>T:p.Asp1564Tyr	coding	Pathogenic
22	50730869	G	T	G50730869T	SHANK3	NM_001372044.1(SHANK3):c.4978G>T:p.Glu1660Ter	coding	Pathogenic
22	50730998	C	A	C50730998A	SHANK3	NM_001372044.2(SHANK3):c.5107C>A:p.Arg1703Ser	coding	Pathogenic
22	50731063	C	T	C50731063T	SHANK3	NM_033517.1(SHANK3):c.4947C>T:p.Pro1649=	coding	Benign
22	50731143	G	A	G50731143A	SHANK3	NM_033517.1:c.5027G>A	coding	Pathogenic
22	50738236	A	G	A50738236G	ACR	NM_001097.3(ACR):c.1A>G:p.Met1Val	coding	Benign
22	50738306	C	T	C50738306T	ACR	NM_001097.3(ACR):c.71C>T:p.Thr24Met	coding	Benign
22	50744057	A	G	A50744057G	ACR	NM_001097.3(ACR):c.566-4A>G	noncoding	Benign
22	50744827	A	G	A50744827G	ACR	NM_001097.3(ACR):c.886A>G:p.Met296Val	coding	Benign
22	50769034	G	T	G50769034T	RABL2B	NM_001130923.3(RABL2B):c.618+7C>A	noncoding	Benign
MT	583	G	A	G583A	MT-TF	m.583G>A	noncoding	Pathogenic
MT	586	G	A	G586A	MT-TF	m.586G>A	noncoding	Pathogenic
MT	590	A	G	A590G	MT-TF	NC_012920.1(MT-CYB):m.590A>G	noncoding	Pathogenic
MT	592	C	T	C592T	MT-TF	NC_012920.1(MT-CYB):m.592C>T	noncoding	Benign
MT	593	T	C	T593C	MT-TF	NC_012920.1(MT-CYB):m.593T>C	noncoding	Benign
MT	596	T	C	T596C	MT-TF	NC_012920.1(MT-CYB):m.596T>C	noncoding	Benign
MT	597	C	T	C597T	MT-TF	NC_012920.1(MT-CYB):m.597C>T	noncoding	Benign
MT	606	A	G	A606G	MT-TF	NC_012920.1(MT-CYB):m.606A>G	noncoding	Benign
MT	608	A	G	A608G	MT-TF	m.608A>G	noncoding	Pathogenic
MT	611	G	A	G611A	MT-TF	m.611G>A	noncoding	Pathogenic
MT	616	T	C	T616C	MT-TF	m.616T>C	noncoding	Pathogenic
MT	616	T	G	T616G	MT-TF	m.616T>G	noncoding	Pathogenic
MT	619	T	C	T619C	MT-TF	NC_012920.1(MT-CYB):m.619T>C	noncoding	Benign
MT	622	G	A	G622A	MT-TF	m.622G>A	noncoding	Pathogenic
MT	629	T	C	T629C	MT-TF	NC_012920.1(MT-CYB):m.629T>C	noncoding	Benign
MT	630	C	T	C630T	MT-TF	NC_012920.1(MT-CYB):m.630C>T	noncoding	Benign
MT	633	A	G	A633G	MT-TF	NC_012920.1(MT-CYB):m.633A>G	noncoding	Benign
MT	634	T	A	T634A	MT-TF	NC_012920.1(MT-CYB):m.634T>A	noncoding	Benign
MT	634	T	C	T634C	MT-TF	NC_012920.1(MT-CYB):m.634T>C	noncoding	Benign
MT	635	C	T	C635T	MT-TF	NC_012920.1(MT-CYB):m.635C>T	noncoding	Benign
MT	644	A	G	A644G	MT-TF	NC_012920.1(MT-CYB):m.644A>G	noncoding	Benign
MT	647	A	G	A647G	MT-TF	NC_012920.1(MT-CYB):m.647A>G	noncoding	Benign
MT	663	A	G	A663G	MT-RNR1	NC_012920.1(MT-ND6):m.663A>G	noncoding	Benign
MT	813	A	G	A813G	MT-RNR1	NC_012920.1(MT-CYB):m.813A>G	noncoding	Benign
MT	930	G	A	G930A	MT-RNR1	NC_012920.1(MT-ATP8):m.930G>A	noncoding	Benign
MT	954	C	T	C954T	MT-RNR1	NC_012920.1(MT-CYB):m.954C>T	noncoding	Benign
MT	961	T	C	T961C	MT-RNR1	m.961T>C	noncoding	Benign
MT	1005	T	C	T1005C	MT-RNR1	m.1005T>C	noncoding	Benign
MT	1007	G	A	G1007A	MT-RNR1	m.1007G>A	noncoding	Benign
MT	1018	G	A	G1018A	MT-RNR1	m.1018G>A	noncoding	Benign
MT	1048	C	T	C1048T	MT-RNR1	m.1048C>T	noncoding	Benign
MT	1107	T	C	T1107C	MT-RNR1	m.1107T>C	noncoding	Benign
MT	1116	A	G	A1116G	MT-RNR1	m.1116A>G	noncoding	Benign
MT	1119	T	C	T1119C	MT-RNR1	m.1119T>C	noncoding	Benign
MT	1189	T	C	T1189C	MT-RNR1	m.1189T>C	noncoding	Benign
MT	1193	T	C	T1193C	MT-RNR1	m.1193T>C	noncoding	Benign/Likely_benign
MT	1243	T	C	T1243C	MT-RNR1	m.1243T>C	noncoding	Benign
MT	1284	T	C	T1284C	MT-RNR1	NC_012920.1(MT-CYB):m.1284T>C	noncoding	Benign
MT	1303	G	A	G1303A	MT-RNR1	NC_012920.1(MT-CYB):m.1303G>A	noncoding	Benign
MT	1382	A	C	A1382C	MT-RNR1	m.1382A>C	noncoding	Benign
MT	1391	T	C	T1391C	MT-RNR1	m.1391T>C	noncoding	Benign
MT	1393	G	A	G1393A	MT-RNR1	m.1393G>A	noncoding	Benign/Likely_benign
MT	1406	T	C	T1406C	MT-RNR1	m.1406T>C	noncoding	Benign
MT	1420	T	C	T1420C	MT-RNR1	m.1420T>C	noncoding	Benign
MT	1438	A	G	A1438G	MT-RNR1	m.1438A>G	noncoding	Benign
MT	1442	G	A	G1442A	MT-RNR1	m.1442G>A	noncoding	Benign/Likely_benign
MT	1462	G	A	G1462A	MT-RNR1	m.1462G>A	noncoding	Benign
MT	1503	G	A	G1503A	MT-RNR1	NC_012920.1:m.1503G>A	noncoding	Benign
MT	1598	G	A	G1598A	MT-RNR1	m.1598G>A	noncoding	Benign
MT	1606	G	A	G1606A	MT-TV	m.1606G>A	noncoding	Pathogenic
MT	1607	T	C	T1607C	MT-TV	NC_012920.1(MT-CYB):m.1607T>C	noncoding	Benign
MT	1644	G	A	G1644A	MT-TV	NC_012920.1(MT-CYB):m.1644G>A	noncoding	Pathogenic
MT	1644	G	T	G1644T	MT-TV	NC_012920.1:m.1644G>T	noncoding	Pathogenic
MT	1646	T	C	T1646C	MT-TV	NC_012920.1(MT-CYB):m.1646T>C	noncoding	Benign
MT	1657	C	T	C1657T	MT-TV	NC_012920.1(MT-CYB):m.1657C>T	noncoding	Benign
MT	1664	G	A	G1664A	MT-TV	NC_012920.1(MT-CYB):m.1664G>A	noncoding	Benign
MT	1670	A	T	A1670T	MT-TV	NC_012920.1(MT-CYB):m.1670A>T	noncoding	Benign
MT	2939	C	A	C2939A	MT-RNR2	m.2939C>A	noncoding	Pathogenic
MT	2991	T	C	T2991C	MT-RNR2	m.2991T>C	noncoding	Pathogenic
MT	3236	A	G	A3236G	MT-TL1	NC_012920.1(MT-CYB):m.3236A>G	noncoding	Benign
MT	3243	A	G	A3243G	MT-TL1	NC_012920.1:m.3243A>G	noncoding	Pathogenic
MT	3243	A	T	A3243T	MT-TL1	NC_012920.1(MT-CYB):m.3243A>T	noncoding	Pathogenic
MT	3249	G	A	G3249A	MT-TL1	m.3249G>A	noncoding	Pathogenic
MT	3251	A	G	A3251G	MT-TL1	m.3251A>G	noncoding	Pathogenic
MT	3254	C	A	C3254A	MT-TL1	NC_012920.1(MT-CYB):m.3254C>A	noncoding	Benign
MT	3255	G	A	G3255A	MT-TL1	NC_012920.1(MT-CYB):m.3255G>A	noncoding	Pathogenic
MT	3256	C	T	C3256T	MT-TL1	m.3256C>T	noncoding	Pathogenic
MT	3260	A	G	A3260G	MT-TL1	m.3260A>G	noncoding	Pathogenic
MT	3271	T	C	T3271C	MT-TL1	m.3271T>C	noncoding	Pathogenic
MT	3274	A	G	A3274G	MT-TL1	m.3274A>G	noncoding	Pathogenic
MT	3275	C	T	C3275T	MT-TL1	NC_012920.1:m.3275C>T	noncoding	Benign
MT	3277	G	A	G3277A	MT-TL1	NC_012920.1(MT-CYB):m.3277G>A	noncoding	Benign
MT	3278	T	C	T3278C	MT-TL1	NC_012920.1(MT-CYB):m.3278T>C	noncoding	Benign
MT	3290	T	C	T3290C	MT-TL1	m.3290T>C	noncoding	Benign
MT	3291	T	C	T3291C	MT-TL1	NC_012920.1:m.3291T>C	noncoding	Pathogenic
MT	3302	A	G	A3302G	MT-TL1	NC_012920.1(MT-CYB):m.3302A>G	noncoding	Pathogenic
MT	3303	C	T	C3303T	MT-TL1	m.3303C>T	noncoding	Pathogenic
MT	3308	T	C	T3308C	MT-ND1	m.3308T>C	noncoding	Benign/Likely_benign
MT	3316	G	A	G3316A	MT-ND1	NC_012920.1:m.3316G>A	noncoding	Benign
MT	3335	T	C	T3335C	MT-ND1	NC_012920.1:m.3335T>C	noncoding	Benign
MT	3337	G	A	G3337A	MT-ND1	NC_012920.1:m.3337G>A	noncoding	Benign
MT	3338	T	C	T3338C	MT-ND1	NC_012920.1:m.3338T>C	noncoding	Benign
MT	3349	A	G	A3349G	MT-ND1	NC_012920.1:m.3349A>G	noncoding	Benign
MT	3350	T	C	T3350C	MT-ND1	NC_012920.1:m.3350T>C	noncoding	Benign
MT	3376	G	A	G3376A	MT-ND1	m.3376G>A	noncoding	Pathogenic
MT	3380	G	A	G3380A	MT-ND1	NC_012920.1:m.3380G>A	noncoding	Pathogenic
MT	3388	C	A	C3388A	MT-ND1	m.3388C>A	noncoding	Benign
MT	3391	G	A	G3391A	MT-ND1	NC_012920.1:m.3391G>A	noncoding	Benign
MT	3397	A	G	A3397G	MT-ND1	m.3397A>G	noncoding	Benign
MT	3398	T	C	T3398C	MT-ND1	NC_012920.1:m.3398T>C	noncoding	Benign
MT	3399	A	T	A3399T	MT-ND1	NC_012920.1:m.3399A>T	noncoding	Benign
MT	3421	G	A	G3421A	MT-ND1	NC_012920.1:m.3421G>A	noncoding	Benign
MT	3434	A	G	A3434G	MT-ND1	NC_012920.1:m.3434A>G	noncoding	Benign
MT	3447	A	G	A3447G	MT-ND1	NC_012920.1(MT-ND1):m.3447A>G	noncoding	Benign
MT	3460	G	A	G3460A	MT-ND1	NC_012920.1:m.3460G>A	noncoding	Pathogenic
MT	3481	G	A	G3481A	MT-ND1	NC_012920.1:m.3481G>A	noncoding	Pathogenic
MT	3497	C	T	C3497T	MT-ND1	NC_012920.1:m.3497C>T	noncoding	Benign
MT	3505	A	G	A3505G	MT-ND1	NC_012920.1:m.3505A>G	noncoding	Benign
MT	3511	A	G	A3511G	MT-ND1	NC_012920.1:m.3511A>G	noncoding	Benign
MT	3513	C	T	C3513T	MT-ND1	NC_012920.1:m.3513C>T	noncoding	Benign
MT	3520	A	G	A3520G	MT-ND1	NC_012920.1:m.3520A>G	noncoding	Benign
MT	3523	A	G	A3523G	MT-ND1	NC_012920.1:m.3523A>G	noncoding	Benign
MT	3535	T	C	T3535C	MT-ND1	NC_012920.1:m.3535T>C	noncoding	Benign
MT	3547	A	G	A3547G	MT-ND1	NC_012920.1:m.3547A>G	noncoding	Benign
MT	3548	T	C	T3548C	MT-ND1	NC_012920.1:m.3548T>C	noncoding	Benign
MT	3552	T	A	T3552A	MT-ND1	NC_012920.1:m.3552T>A	noncoding	Benign
MT	3565	A	G	A3565G	MT-ND1	NC_012920.1:m.3565A>G	noncoding	Benign
MT	3571	C	T	C3571T	MT-ND1	NC_012920.1:m.3571C>T	noncoding	Benign
MT	3592	G	A	G3592A	MT-ND1	NC_012920.1:m.3592G>A	noncoding	Benign
MT	3593	T	C	T3593C	MT-ND1	NC_012920.1:m.3593T>C	noncoding	Benign
MT	3697	G	A	G3697A	MT-ND1	m.3697G>A	noncoding	Pathogenic
MT	3700	G	A	G3700A	MT-ND1	m.3700G>A	noncoding	Pathogenic
MT	3733	G	A	G3733A	MT-ND1	m.3733G>A	noncoding	Pathogenic
MT	3736	G	A	G3736A	MT-ND1	NC_012920.1:m.3736G>A	noncoding	Benign
MT	3745	G	A	G3745A	MT-ND1	NC_012920.1:m.3745G>A	noncoding	Benign
MT	3746	C	T	C3746T	MT-ND1	NC_012920.1:m.3746C>T	noncoding	Benign
MT	3761	C	A	C3761A	MT-ND1	NC_012920.1:m.3761C>A	noncoding	Pathogenic
MT	3796	A	G	A3796G	MT-ND1	m.3796A>G	noncoding	Benign
MT	3796	A	T	A3796T	MT-ND1	NC_012920.1(MT-ND1):m.3796A>T	noncoding	Benign/Likely_benign
MT	3849	G	A	G3849A	MT-ND1	NC_012920.1(MT-ND1):m.3849G>A	noncoding	Benign/Likely_benign
MT	3865	A	G	A3865G	MT-ND1	NC_012920.1:m.3865A>G	noncoding	Benign
MT	3866	T	C	T3866C	MT-ND1	NC_012920.1:m.3866T>C	noncoding	Benign
MT	3890	G	A	G3890A	MT-ND1	NC_012920.1:m.3890G>A	noncoding	Pathogenic
MT	3892	A	G	A3892G	MT-ND1	NC_012920.1:m.3892A>G	noncoding	Benign
MT	3915	G	A	G3915A	MT-ND1	NC_012920.1:m.3915G>A	noncoding	Benign
MT	3921	C	A	C3921A	MT-ND1	NC_012920.1:m.3921C>A	noncoding	Benign
MT	3946	G	A	G3946A	MT-ND1	m.3946G>A	noncoding	Pathogenic
MT	3949	T	C	T3949C	MT-ND1	m.3949T>C	noncoding	Pathogenic
MT	3990	C	T	C3990T	MT-ND1	NC_012920.1(MT-ND1):m.3990C>T	noncoding	Benign
MT	3992	C	T	C3992T	MT-ND1	NC_012920.1:m.3992C>T	noncoding	Benign
MT	4012	A	G	A4012G	MT-ND1	NC_012920.1:m.4012A>G	noncoding	Benign
MT	4013	C	T	C4013T	MT-ND1	NC_012920.1:m.4013C>T	noncoding	Benign
MT	4021	A	G	A4021G	MT-ND1	NC_012920.1:m.4021A>G	noncoding	Benign
MT	4024	A	G	A4024G	MT-ND1	NC_012920.1:m.4024A>G	noncoding	Benign
MT	4025	C	T	C4025T	MT-ND1	m.4025C>T	noncoding	Benign
MT	4048	G	A	G4048A	MT-ND1	NC_012920.1:m.4048G>A	noncoding	Benign
MT	4079	A	G	A4079G	MT-ND1	NC_012920.1:m.4079A>G	noncoding	Benign
MT	4093	A	G	A4093G	MT-ND1	NC_012920.1:m.4093A>G	noncoding	Benign
MT	4123	A	G	A4123G	MT-ND1	NC_012920.1:m.4123A>G	noncoding	Benign
MT	4129	A	G	A4129G	MT-ND1	NC_012920.1:m.4129A>G	noncoding	Benign
MT	4135	T	C	T4135C	MT-ND1	NC_012920.1:m.4135T>C	noncoding	Benign
MT	4136	A	G	A4136G	MT-ND1	m.4136A>G	noncoding	Benign
MT	4158	A	G	A4158G	MT-ND1	NC_012920.1:m.4158A>G	noncoding	Benign
MT	4160	T	C	T4160C	MT-ND1	m.4160T>C	noncoding	Pathogenic
MT	4172	T	A	T4172A	MT-ND1	NC_012920.1:m.4172T>A	noncoding	Benign
MT	4216	T	C	T4216C	MT-ND1	m.4216T>C	noncoding	Benign
MT	4219	G	A	G4219A	MT-ND1	NC_012920.1(MT-ND1):m.4219G>A	noncoding	Benign/Likely_benign
MT	4225	A	G	A4225G	MT-ND1	NC_012920.1:m.4225A>G	noncoding	Benign
MT	4232	T	C	T4232C	MT-ND1	NC_012920.1:m.4232T>C	noncoding	Benign
MT	4248	T	C	T4248C	MT-ND1	NC_012920.1:m.4248T>C	noncoding	Benign
MT	4269	A	G	A4269G	MT-TI	m.4269A>G	noncoding	Pathogenic
MT	4277	T	C	T4277C	MT-TI	NC_012920.1:m.4277T>C	noncoding	Benign
MT	4279	A	G	A4279G	MT-TI	NC_012920.1:m.4279A>G	noncoding	Pathogenic
MT	4291	T	C	T4291C	MT-TI	m.4291T>C	noncoding	Pathogenic
MT	4298	G	A	G4298A	MT-TI	NC_012920.1(MT-CYB):m.4298G>A	noncoding	Pathogenic
MT	4300	A	G	A4300G	MT-TI	m.4300A>G	noncoding	Pathogenic/Likely_pathogenic
MT	4310	A	G	A4310G	MT-TI	NC_012920.1(MT-CYB):m.4310A>G	noncoding	Benign
MT	4312	C	T	C4312T	MT-TI	NC_012920.1(MT-CYB):m.4312C>T	noncoding	Benign
MT	4313	T	C	T4313C	MT-TI	NC_012920.1(MT-CYB):m.4313T>C	noncoding	Benign
MT	4314	T	A	T4314A	MT-TI	NC_012920.1(MT-CYB):m.4314T>A	noncoding	Benign
MT	4314	T	C	T4314C	MT-TI	NC_012920.1(MT-CYB):m.4314T>C	noncoding	Benign
MT	4316	A	G	A4316G	MT-TI	NC_012920.1:m.4316A>G	noncoding	Benign
MT	4317	A	G	A4317G	MT-TI	m.4317A>G	noncoding	Benign
MT	4332	G	A	G4332A	MT-TQ	m.4332G>A	noncoding	Pathogenic
MT	4335	C	T	C4335T	MT-TQ	NC_012920.1(MT-CYB):m.4335C>T	noncoding	Benign
MT	4340	A	G	A4340G	MT-TQ	NC_012920.1(MT-CYB):m.4340A>G	noncoding	Benign
MT	4343	A	G	A4343G	MT-TQ	NC_012920.1(MT-CYB):m.4343A>G	noncoding	Benign
MT	4350	C	T	C4350T	MT-TQ	NC_012920.1(MT-CYB):m.4350C>T	noncoding	Benign
MT	4353	T	C	T4353C	MT-TQ	NC_012920.1(MT-CYB):m.4353T>C	noncoding	Benign
MT	4363	T	C	T4363C	MT-TQ	NC_012920.1:m.4363T>C	noncoding	Benign
MT	4370	T	C	T4370C	MT-TQ	NC_012920.1(MT-CYB):m.4370T>C	noncoding	Benign
MT	4371	T	C	T4371C	MT-TQ	NC_012920.1(MT-CYB):m.4371T>C	noncoding	Benign
MT	4373	T	C	T4373C	MT-TQ	NC_012920.1(MT-CYB):m.4373T>C	noncoding	Benign
MT	4381	A	G	A4381G	MT-TQ	NC_012920.1(MT-CYB):m.4381A>G	noncoding	Benign
MT	4384	T	C	T4384C	MT-TQ	NC_012920.1(MT-CYB):m.4384T>C	noncoding	Benign
MT	4385	A	T	A4385T	MT-TQ	NC_012920.1(MT-CYB):m.4385A>T	noncoding	Benign
MT	4386	T	C	T4386C	MT-TQ	NC_012920.1(MT-CYB):m.4386T>C	noncoding	Benign
MT	4394	C	A	C4394A	MT-TQ	NC_012920.1(MT-CYB):m.4394C>A	noncoding	Benign
MT	4395	A	G	A4395G	MT-TQ	NC_012920.1(MT-CYB):m.4395A>G	noncoding	Benign
MT	4409	T	C	T4409C	MT-TM	m.4409T>C	noncoding	Pathogenic
MT	4418	T	C	T4418C	MT-TM	NC_012920.1(MT-CYB):m.4418T>C	noncoding	Benign
MT	4435	A	G	A4435G	MT-TM	NC_012920.1(MT-CYB):m.4435A>G	noncoding	Benign
MT	4452	T	C	T4452C	MT-TM	NC_012920.1(MT-CYB):m.4452T>C	noncoding	Benign
MT	4454	T	A	T4454A	MT-TM	NC_012920.1(MT-CYB):m.4454T>A	noncoding	Benign
MT	4454	T	C	T4454C	MT-TM	NC_012920.1(MT-CYB):m.4454T>C	noncoding	Benign
MT	4464	G	A	G4464A	MT-TM	NC_012920.1(MT-CYB):m.4464G>A	noncoding	Benign
MT	4491	G	A	G4491A	MT-ND2	NC_012920.1:m.4491G>A	noncoding	Benign
MT	4501	C	T	C4501T	MT-ND2	NC_012920.1:m.4501C>T	noncoding	Benign
MT	4506	A	G	A4506G	MT-ND2	NC_012920.1:m.4506A>G	noncoding	Benign
MT	4512	G	A	G4512A	MT-ND2	NC_012920.1:m.4512G>A	noncoding	Benign
MT	4560	G	A	G4560A	MT-ND2	NC_012920.1:m.4560G>A	noncoding	Benign
MT	4561	T	C	T4561C	MT-ND2	NC_012920.1:m.4561T>C	noncoding	Benign
MT	4596	G	A	G4596A	MT-ND2	NC_012920.1:m.4596G>A	noncoding	Benign
MT	4615	A	G	A4615G	MT-ND2	NC_012920.1:m.4615A>G	noncoding	Benign
MT	4639	T	C	T4639C	MT-ND2	NC_012920.1:m.4639T>C	noncoding	Benign
MT	4640	C	A	C4640A	MT-ND2	m.4640C>A	noncoding	Benign
MT	4659	G	A	G4659A	MT-ND2	NC_012920.1:m.4659G>A	noncoding	Benign
MT	4674	A	G	A4674G	MT-ND2	NC_012920.1:m.4674A>G	noncoding	Benign
MT	4681	T	C	T4681C	MT-ND2	m.4681T>C	noncoding	Pathogenic
MT	4695	T	C	T4695C	MT-ND2	NC_012920.1:m.4695T>C	noncoding	Benign
MT	4696	T	C	T4696C	MT-ND2	NC_012920.1:m.4696T>C	noncoding	Benign
MT	4705	T	C	T4705C	MT-ND2	NC_012920.1:m.4705T>C	noncoding	Benign
MT	4707	C	T	C4707T	MT-ND2	NC_012920.1:m.4707C>T	noncoding	Benign
MT	4722	A	G	A4722G	MT-ND2	NC_012920.1:m.4722A>G	noncoding	Benign
MT	4732	A	G	A4732G	MT-ND2	NC_012920.1:m.4732A>G	noncoding	Benign
MT	4734	A	G	A4734G	MT-ND2	NC_012920.1:m.4734A>G	noncoding	Benign
MT	4735	C	A	C4735A	MT-ND2	NC_012920.1:m.4735C>A	noncoding	Benign
MT	4767	A	G	A4767G	MT-ND2	NC_012920.1:m.4767A>G	noncoding	Benign
MT	4810	G	A	G4810A	MT-ND2	m.4810G>A	noncoding	Pathogenic
MT	4824	A	G	A4824G	MT-ND2	NC_012920.1:m.4824A>G	noncoding	Benign
MT	4833	A	G	A4833G	MT-ND2	NC_012920.1:m.4833A>G	noncoding	Benign
MT	4843	C	T	C4843T	MT-ND2	NC_012920.1:m.4843C>T	noncoding	Benign
MT	4917	A	G	A4917G	MT-ND2	m.4917A>G	noncoding	Benign
MT	4924	G	A	G4924A	MT-ND2	NC_012920.1:m.4924G>A	noncoding	Benign
MT	4936	C	T	C4936T	MT-ND2	NC_012920.1:m.4936C>T	noncoding	Benign
MT	4959	G	A	G4959A	MT-ND2	NC_012920.1:m.4959G>A	noncoding	Benign
MT	4960	C	T	C4960T	MT-ND2	NC_012920.1:m.4960C>T	noncoding	Benign
MT	4965	A	G	A4965G	MT-ND2	NC_012920.1:m.4965A>G	noncoding	Benign
MT	5046	G	A	G5046A	MT-ND2	NC_012920.1:m.5046G>A	noncoding	Benign
MT	5074	T	C	T5074C	MT-ND2	NC_012920.1:m.5074T>C	noncoding	Benign
MT	5076	C	T	C5076T	MT-ND2	NC_012920.1:m.5076C>T	noncoding	Benign
MT	5178	C	A	C5178A	MT-ND2	NC_012920.1:m.5178C>A	noncoding	Benign
MT	5186	A	T	A5186T	MT-ND2	NC_012920.1:m.5186A>T	noncoding	Benign
MT	5194	C	T	C5194T	MT-ND2	NC_012920.1:m.5194C>T	noncoding	Benign
MT	5206	C	T	C5206T	MT-ND2	NC_012920.1:m.5206C>T	noncoding	Benign
MT	5211	C	T	C5211T	MT-ND2	NC_012920.1:m.5211C>T	noncoding	Benign
MT	5244	G	A	G5244A	MT-ND2	m.5244G>A	noncoding	Pathogenic
MT	5262	G	A	G5262A	MT-ND2	NC_012920.1:m.5262G>A	noncoding	Benign
MT	5263	C	T	C5263T	MT-ND2	NC_012920.1:m.5263C>T	noncoding	Benign
MT	5277	T	C	T5277C	MT-ND2	NC_012920.1:m.5277T>C	noncoding	Benign
MT	5301	A	G	A5301G	MT-ND2	NC_012920.1:m.5301A>G	noncoding	Benign
MT	5302	T	C	T5302C	MT-ND2	NC_012920.1:m.5302T>C	noncoding	Benign
MT	5319	A	G	A5319G	MT-ND2	NC_012920.1:m.5319A>G	noncoding	Benign
MT	5331	C	A	C5331A	MT-ND2	NC_012920.1:m.5331C>A	noncoding	Benign
MT	5437	C	T	C5437T	MT-ND2	NC_012920.1:m.5437C>T	noncoding	Benign
MT	5442	T	C	T5442C	MT-ND2	NC_012920.1:m.5442T>C	noncoding	Benign
MT	5460	G	A	G5460A	MT-ND2	NC_012920.1:m.5460G>A	noncoding	Benign
MT	5463	C	T	C5463T	MT-ND2	NC_012920.1:m.5463C>T	noncoding	Benign
MT	5465	T	C	T5465C	MT-ND2	NC_012920.1:m.5465T>C	noncoding	Benign
MT	5466	A	G	A5466G	MT-ND2	NC_012920.1:m.5466A>G	noncoding	Benign
MT	5493	T	C	T5493C	MT-ND2	NC_012920.1:m.5493T>C	noncoding	Benign
MT	5514	A	G	A5514G	MT-TW	NC_012920.1(MT-CYB):m.5514A>G	noncoding	Benign
MT	5515	A	G	A5515G	MT-TW	NC_012920.1(MT-CYB):m.5515A>G	noncoding	Benign
MT	5521	G	A	G5521A	MT-TW	m.5521G>A	noncoding	Pathogenic
MT	5523	T	G	T5523G	MT-TW	NC_012920.1:m.5523T>G	noncoding	Pathogenic
MT	5527	A	G	A5527G	MT-TW	NC_012920.1(MT-CYB):m.5527A>G	noncoding	Benign
MT	5528	T	C	T5528C	MT-TW	NC_012920.1(MT-CYB):m.5528T>C	noncoding	Benign
MT	5530	C	T	C5530T	MT-TW	NC_012920.1(MT-CYB):m.5530C>T	noncoding	Benign
MT	5532	G	A	G5532A	MT-TW	m.5532G>A	noncoding	Pathogenic
MT	5538	G	A	G5538A	MT-TW	NC_012920.1(MT-CYB):m.5538G>A	noncoding	Pathogenic
MT	5539	A	G	A5539G	MT-TW	NC_012920.1(MT-CYB):m.5539A>G	noncoding	Benign
MT	5540	G	A	G5540A	MT-TW	NC_012920.1(MT-CYB):m.5540G>A	noncoding	Pathogenic
MT	5543	T	C	T5543C	MT-TW	NC_012920.1(MT-CYB):m.5543T>C	noncoding	Pathogenic
MT	5545	C	T	C5545T	MT-TW	m.5545C>T	noncoding	Pathogenic
MT	5549	G	A	G5549A	MT-TW	m.5549G>A	noncoding	Pathogenic
MT	5553	T	C	T5553C	MT-TW	NC_012920.1(MT-CYB):m.5553T>C	noncoding	Benign/Likely_benign
MT	5554	C	A	C5554A	MT-TW	NC_012920.1(MT-CYB):m.5554C>A	noncoding	Benign
MT	5556	G	A	G5556A	MT-TW	m.5556G>A	noncoding	Pathogenic
MT	5557	T	C	T5557C	MT-TW	NC_012920.1(MT-CYB):m.5557T>C	noncoding	Benign
MT	5558	A	G	A5558G	MT-TW	NC_012920.1(MT-CYB):m.5558A>G	noncoding	Benign
MT	5563	G	A	G5563A	MT-TW	NC_012920.1(MT-CYB):m.5563G>A	noncoding	Benign
MT	5567	T	C	T5567C	MT-TW	NC_012920.1(MT-CYB):m.5567T>C	noncoding	Benign
MT	5568	A	G	A5568G	MT-TW	NC_012920.1(MT-CYB):m.5568A>G	noncoding	Benign
MT	5591	G	A	G5591A	MT-TA	m.5591G>A	noncoding	Pathogenic
MT	5592	A	G	A5592G	MT-TA	NC_012920.1(MT-CYB):m.5592A>G	noncoding	Benign
MT	5601	C	T	C5601T	MT-TA	NC_012920.1(MT-CYB):m.5601C>T	noncoding	Benign
MT	5603	C	T	C5603T	MT-TA	NC_012920.1(MT-CYB):m.5603C>T	noncoding	Benign
MT	5605	A	G	A5605G	MT-TA	NC_012920.1(MT-CYB):m.5605A>G	noncoding	Benign
MT	5610	G	A	G5610A	MT-TA	NC_012920.1:m.5610G>A	noncoding	Pathogenic
MT	5618	T	C	T5618C	MT-TA	NC_012920.1(MT-CYB):m.5618T>C	noncoding	Benign
MT	5628	T	C	T5628C	MT-TA	NC_012920.1(MT-CYB):m.5628T>C	noncoding	Benign
MT	5631	G	A	G5631A	MT-TA	NC_012920.1:m.5631G>A	noncoding	Pathogenic
MT	5633	C	T	C5633T	MT-TA	NC_012920.1(MT-CYB):m.5633C>T	noncoding	Benign
MT	5650	G	A	G5650A	MT-TA	m.5650G>A	noncoding	Pathogenic
MT	5655	T	C	T5655C	MT-TA	NC_012920.1(MT-CYB):m.5655T>C	noncoding	Benign
MT	5663	C	T	C5663T	MT-TN	NC_012920.1(MT-CYB):m.5663C>T	noncoding	Benign
MT	5664	A	G	A5664G	MT-TN	NC_012920.1(MT-CYB):m.5664A>G	noncoding	Benign
MT	5665	A	G	A5665G	MT-TN	NC_012920.1(MT-CYB):m.5665A>G	noncoding	Benign
MT	5667	G	A	G5667A	MT-TN	NC_012920.1:m.5667G>A	noncoding	Pathogenic
MT	5673	T	C	T5673C	MT-TN	NC_012920.1(MT-CYB):m.5673T>C	noncoding	Benign
MT	5686	A	T	A5686T	MT-TN	NC_012920.1(MT-CYB):m.5686A>T	noncoding	Benign
MT	5692	T	C	T5692C	MT-TN	m.5692T>C	noncoding	Pathogenic
MT	5703	G	A	G5703A	MT-TN	m.5703G>A	noncoding	Pathogenic
MT	5711	A	G	A5711G	MT-TN	NC_012920.1(MT-CYB):m.5711A>G	noncoding	Benign
MT	5715	A	G	A5715G	MT-TN	NC_012920.1(MT-CYB):m.5715A>G	noncoding	Benign
MT	5728	T	C	T5728C	MT-TN	m.5728T>C	noncoding	Pathogenic
MT	5772	G	A	G5772A	MT-TC	NC_012920.1(MT-CYB):m.5772G>A	noncoding	Benign
MT	5773	G	A	G5773A	MT-TC	NC_012920.1(MT-CYB):m.5773G>A	noncoding	Benign
MT	5774	T	C	T5774C	MT-TC	NC_012920.1(MT-CYB):m.5774T>C	noncoding	Benign
MT	5774	T	G	T5774G	MT-TC	NC_012920.1(MT-CYB):m.5774T>G	noncoding	Benign
MT	5775	T	C	T5775C	MT-TC	NC_012920.1(MT-CYB):m.5775T>C	noncoding	Benign
MT	5780	G	A	G5780A	MT-TC	NC_012920.1(MT-CYB):m.5780G>A	noncoding	Benign
MT	5783	G	A	G5783A	MT-TC	NC_012920.1(MT-CYB):m.5783G>A	noncoding	Benign
MT	5785	T	C	T5785C	MT-TC	NC_012920.1(MT-CYB):m.5785T>C	noncoding	Benign
MT	5786	T	C	T5786C	MT-TC	NC_012920.1(MT-CYB):m.5786T>C	noncoding	Benign
MT	5788	T	C	T5788C	MT-TC	NC_012920.1(MT-CYB):m.5788T>C	noncoding	Benign
MT	5794	T	C	T5794C	MT-TC	NC_012920.1(MT-CYB):m.5794T>C	noncoding	Benign
MT	5806	T	C	T5806C	MT-TC	NC_012920.1(MT-CYB):m.5806T>C	noncoding	Benign
MT	5811	A	G	A5811G	MT-TC	NC_012920.1(MT-CYB):m.5811A>G	noncoding	Benign
MT	5816	A	G	A5816G	MT-TC	m.5816A>G	noncoding	Pathogenic
MT	5817	C	T	C5817T	MT-TC	NC_012920.1(MT-CYB):m.5817C>T	noncoding	Benign
MT	5821	G	A	G5821A	MT-TC	NC_012920.1(MT-CYB):m.5821G>A	noncoding	Benign
MT	5822	G	A	G5822A	MT-TC	NC_012920.1(MT-CYB):m.5822G>A	noncoding	Benign
MT	5823	A	G	A5823G	MT-TC	NC_012920.1(MT-CYB):m.5823A>G	noncoding	Benign
MT	5824	G	A	G5824A	MT-TC	NC_012920.1(MT-CYB):m.5824G>A	noncoding	Benign
MT	5836	A	G	A5836G	MT-TY	NC_012920.1(MT-CYB):m.5836A>G	noncoding	Benign
MT	5839	C	T	C5839T	MT-TY	NC_012920.1(MT-CYB):m.5839C>T	noncoding	Benign
MT	5843	A	G	A5843G	MT-TY	m.5843A>G	noncoding	Benign
MT	5846	C	T	C5846T	MT-TY	NC_012920.1(MT-CYB):m.5846C>T	noncoding	Benign
MT	5874	T	C	T5874C	MT-TY	m.5874T>C	noncoding	Pathogenic
MT	5877	C	T	C5877T	MT-TY	m.5877C>T	noncoding	Pathogenic
MT	5910	G	A	G5910A	MT-CO1	NC_012920.1:m.5910G>A	noncoding	Benign
MT	5911	C	T	C5911T	MT-CO1	NC_012920.1:m.5911C>T	noncoding	Benign
MT	5913	G	A	G5913A	MT-CO1	NC_012920.1:m.5913G>A	noncoding	Benign
MT	5918	T	C	T5918C	MT-CO1	NC_012920.1:m.5918T>C	noncoding	Benign
MT	5920	G	A	G5920A	MT-CO1	m.5920G>A	noncoding	Pathogenic
MT	5951	A	G	A5951G	MT-CO1	NC_012920.1:m.5951A>G	noncoding	Benign/Likely_benign
MT	5973	G	A	G5973A	MT-CO1	NC_012920.1:m.5973G>A	noncoding	Benign
MT	5979	G	A	G5979A	MT-CO1	NC_012920.1:m.5979G>A	noncoding	Benign
MT	5985	G	A	G5985A	MT-CO1	NC_012920.1:m.5985G>A	noncoding	Benign
MT	6018	G	A	G6018A	MT-CO1	NC_012920.1:m.6018G>A	noncoding	Benign
MT	6026	G	A	G6026A	MT-CO1	NC_012920.1:m.6026G>A	noncoding	Benign
MT	6040	A	G	A6040G	MT-CO1	NC_012920.1:m.6040A>G	noncoding	Benign
MT	6071	T	C	T6071C	MT-CO1	NC_012920.1:m.6071T>C	noncoding	Benign/Likely_benign
MT	6150	G	A	G6150A	MT-CO1	NC_012920.1:m.6150G>A	noncoding	Benign
MT	6228	C	T	C6228T	MT-CO1	NC_012920.1:m.6228C>T	noncoding	Benign
MT	6237	C	A	C6237A	MT-CO1	NC_012920.1:m.6237C>A	noncoding	Benign
MT	6249	G	A	G6249A	MT-CO1	NC_012920.1:m.6249G>A	noncoding	Benign
MT	6253	T	C	T6253C	MT-CO1	NC_012920.1:m.6253T>C	noncoding	Benign
MT	6260	G	A	G6260A	MT-CO1	NC_012920.1(MT-CO1):m.6260G>A	noncoding	Benign/Likely_benign
MT	6261	G	A	G6261A	MT-CO1	NC_012920.1(MT-CO1):m.6261G>A	noncoding	Benign/Likely_benign
MT	6267	G	A	G6267A	MT-CO1	NC_012920.1:m.6267G>A	noncoding	Benign
MT	6277	G	A	G6277A	MT-CO1	m.6277G>A	noncoding	Pathogenic
MT	6285	G	A	G6285A	MT-CO1	NC_012920.1:m.6285G>A	noncoding	Benign
MT	6328	C	T	C6328T	MT-CO1	m.6328C>T	noncoding	Pathogenic
MT	6340	C	T	C6340T	MT-CO1	NC_012920.1:m.6340C>T	noncoding	Benign
MT	6345	T	C	T6345C	MT-CO1	NC_012920.1:m.6345T>C	noncoding	Benign
MT	6353	A	G	A6353G	MT-CO1	NC_012920.1:m.6353A>G	noncoding	Benign
MT	6366	G	A	G6366A	MT-CO1	NC_012920.1:m.6366G>A	noncoding	Benign
MT	6366	G	C	G6366C	MT-CO1	NC_012920.1:m.6366G>C	noncoding	Benign
MT	6446	G	A	G6446A	MT-CO1	NC_012920.1:m.6446G>A	noncoding	Benign
MT	6456	G	A	G6456A	MT-CO1	NC_012920.1:m.6456G>A	noncoding	Benign
MT	6465	G	A	G6465A	MT-CO1	NC_012920.1:m.6465G>A	noncoding	Benign
MT	6480	G	A	G6480A	MT-CO1	m.6480G>A	noncoding	Benign
MT	6489	C	A	C6489A	MT-CO1	m.6489C>A	noncoding	Benign
MT	6546	C	T	C6546T	MT-CO1	NC_012920.1:m.6546C>T	noncoding	Benign
MT	6570	G	T	G6570T	MT-CO1	NC_012920.1:m.6570G>T	noncoding	Benign
MT	6663	A	G	A6663G	MT-CO1	NC_012920.1:m.6663A>G	noncoding	Benign
MT	6671	T	C	T6671C	MT-CO1	NC_012920.1:m.6671T>C	noncoding	Benign
MT	6713	C	T	C6713T	MT-CO1	NC_012920.1:m.6713C>T	noncoding	Benign
MT	6721	T	C	T6721C	MT-CO1	m.6721T>C	noncoding	Pathogenic
MT	6723	G	A	G6723A	MT-CO1	NC_012920.1:m.6723G>A	noncoding	Benign
MT	6734	G	A	G6734A	MT-CO1	NC_012920.1(MT-CO1):m.6734G>A	noncoding	Benign
MT	6742	T	C	T6742C	MT-CO1	m.6742T>C	noncoding	Pathogenic
MT	6776	T	C	T6776C	MT-CO1	NC_012920.1:m.6776T>C	noncoding	Benign
MT	6852	G	A	G6852A	MT-CO1	NC_012920.1:m.6852G>A	noncoding	Benign
MT	6891	A	G	A6891G	MT-CO1	NC_012920.1:m.6891A>G	noncoding	Benign
MT	6911	T	C	T6911C	MT-CO1	NC_012920.1:m.6911T>C	noncoding	Benign
MT	6915	G	A	G6915A	MT-CO1	NC_012920.1:m.6915G>A	noncoding	Benign
MT	6930	G	A	G6930A	MT-CO1	m.6930G>A	noncoding	Pathogenic
MT	7013	G	A	G7013A	MT-CO1	NC_012920.1:m.7013G>A	noncoding	Benign
MT	7080	T	C	T7080C	MT-CO1	NC_012920.1:m.7080T>C	noncoding	Benign
MT	7119	G	A	G7119A	MT-CO1	NC_012920.1:m.7119G>A	noncoding	Benign
MT	7146	A	G	A7146G	MT-CO1	NC_012920.1:m.7146A>G	noncoding	Benign
MT	7150	T	C	T7150C	MT-CO1	NC_012920.1:m.7150T>C	noncoding	Benign
MT	7158	A	G	A7158G	MT-CO1	NC_012920.1:m.7158A>G	noncoding	Benign
MT	7175	T	C	T7175C	MT-CO1	NC_012920.1(MT-CO1):m.7175T>C	noncoding	Benign
MT	7196	C	A	C7196A	MT-CO1	NC_012920.1:m.7196C>A	noncoding	Benign
MT	7245	A	G	A7245G	MT-CO1	NC_012920.1:m.7245A>G	noncoding	Benign
MT	7257	A	G	A7257G	MT-CO1	NC_012920.1:m.7257A>G	noncoding	Benign
MT	7258	T	C	T7258C	MT-CO1	NC_012920.1:m.7258T>C	noncoding	Benign
MT	7269	G	A	G7269A	MT-CO1	NC_012920.1:m.7269G>A	noncoding	Benign
MT	7270	T	C	T7270C	MT-CO1	NC_012920.1:m.7270T>C	noncoding	Benign
MT	7274	C	T	C7274T	MT-CO1	NC_012920.1:m.7274C>T	noncoding	Benign
MT	7275	T	C	T7275C	MT-CO1	m.7275T>C	noncoding	Pathogenic
MT	7278	T	C	T7278C	MT-CO1	NC_012920.1:m.7278T>C	noncoding	Benign
MT	7299	A	G	A7299G	MT-CO1	NC_012920.1:m.7299A>G	noncoding	Benign
MT	7309	T	C	T7309C	MT-CO1	NC_012920.1:m.7309T>C	noncoding	Benign
MT	7356	G	A	G7356A	MT-CO1	NC_012920.1:m.7356G>A	noncoding	Benign
MT	7389	T	C	T7389C	MT-CO1	NC_012920.1:m.7389T>C	noncoding	Benign
MT	7419	G	A	G7419A	MT-CO1	NC_012920.1:m.7419G>A	noncoding	Benign
MT	7443	A	G	A7443G	MT-TS1	NC_012920.1:m.7443A>G	noncoding	Pathogenic
MT	7445	A	C	A7445C	MT-TS1	m.7445A>C	noncoding	Pathogenic
MT	7445	A	G	A7445G	MT-TS1	NC_012920.1:m.7445A>G	noncoding	Pathogenic
MT	7445	A	T	A7445T	MT-TS1	NC_012920.1:m.7445A>T	noncoding	Pathogenic
MT	7462	C	T	C7462T	MT-TS1	NC_012920.1:m.7462C>T	noncoding	Pathogenic
MT	7468	C	T	C7468T	MT-TS1	m.7468C>T	noncoding	Benign
MT	7469	C	T	C7469T	MT-TS1	NC_012920.1(MT-CYB):m.7469C>T	noncoding	Benign
MT	7471	C	T	C7471T	MT-TS1	m.7471C>T	noncoding	Benign/Likely_benign
MT	7472	A	T	A7472T	MT-TS1	NC_012920.1:m.7472A>T	noncoding	Benign/Likely_benign
MT	7476	C	T	C7476T	MT-TS1	m.7476C>T	noncoding	Benign/Likely_benign
MT	7490	A	G	A7490G	MT-TS1	NC_012920.1(MT-CYB):m.7490A>G	noncoding	Benign
MT	7493	C	T	C7493T	MT-TS1	m.7493C>T	noncoding	Benign
MT	7497	G	A	G7497A	MT-TS1	m.7497G>A	noncoding	Pathogenic
MT	7498	G	A	G7498A	MT-TS1	m.7498G>A	noncoding	Benign
MT	7501	T	C	T7501C	MT-TS1	NC_012920.1(MT-CYB):m.7501T>C	noncoding	Benign
MT	7505	T	C	T7505C	MT-TS1	NC_012920.1:m.7505T>C	noncoding	Pathogenic
MT	7510	T	C	T7510C	MT-TS1	m.7510T>C	noncoding	Pathogenic
MT	7511	T	C	T7511C	MT-TS1	m.7511T>C	noncoding	Pathogenic
MT	7512	T	C	T7512C	MT-TS1	m.7512T>C	noncoding	Pathogenic
MT	7521	G	A	G7521A	MT-TD	NC_012920.1(MT-CYB):m.7521G>A	noncoding	Benign
MT	7526	A	G	A7526G	MT-TD	m.7526A>G	noncoding	Pathogenic
MT	7533	C	T	C7533T	MT-TD	NC_012920.1(MT-CYB):m.7533C>T	noncoding	Benign
MT	7543	A	G	A7543G	MT-TD	NC_012920.1(MT-CYB):m.7543A>G	noncoding	Benign
MT	7547	T	C	T7547C	MT-TD	NC_012920.1(MT-CYB):m.7547T>C	noncoding	Benign
MT	7559	A	G	A7559G	MT-TD	NC_012920.1(MT-CYB):m.7559A>G	noncoding	Benign
MT	7561	T	C	T7561C	MT-TD	NC_012920.1(MT-CYB):m.7561T>C	noncoding	Benign
MT	7568	T	C	T7568C	MT-TD	NC_012920.1(MT-CYB):m.7568T>C	noncoding	Benign
MT	7569	A	G	A7569G	MT-TD	NC_012920.1(MT-CYB):m.7569A>G	noncoding	Benign
MT	7570	A	G	A7570G	MT-TD	NC_012920.1(MT-CYB):m.7570A>G	noncoding	Benign
MT	7572	T	C	T7572C	MT-TD	NC_012920.1(MT-CYB):m.7572T>C	noncoding	Benign
MT	7581	T	C	T7581C	MT-TD	NC_012920.1(MT-CYB):m.7581T>C	noncoding	Benign
MT	7587	T	C	T7587C	MT-CO2	m.7587T>C	noncoding	Pathogenic
MT	7598	G	A	G7598A	MT-CO2	NC_012920.1:m.7598G>A	noncoding	Benign
MT	7604	G	A	G7604A	MT-CO2	NC_012920.1:m.7604G>A	noncoding	Benign
MT	7624	T	A	T7624A	MT-CO2	NC_012920.1:m.7624T>A	noncoding	Benign
MT	7664	G	A	G7664A	MT-CO2	NC_012920.1:m.7664G>A	noncoding	Benign
MT	7671	T	A	T7671A	MT-CO2	m.7671T>A	noncoding	Pathogenic
MT	7673	A	G	A7673G	MT-CO2	NC_012920.1:m.7673A>G	noncoding	Benign
MT	7679	T	C	T7679C	MT-CO2	NC_012920.1:m.7679T>C	noncoding	Benign
MT	7691	T	C	T7691C	MT-CO2	NC_012920.1:m.7691T>C	noncoding	Benign
MT	7697	G	A	G7697A	MT-CO2	NC_012920.1:m.7697G>A	noncoding	Benign
MT	7754	G	A	G7754A	MT-CO2	NC_012920.1:m.7754G>A	noncoding	Benign
MT	7757	G	A	G7757A	MT-CO2	NC_012920.1:m.7757G>A	noncoding	Benign
MT	7771	A	G	A7771G	MT-CO2	NC_012920.1:m.7771A>G	noncoding	Benign
MT	7775	G	A	G7775A	MT-CO2	NC_012920.1:m.7775G>A	noncoding	Benign
MT	7789	G	A	G7789A	MT-CO2	NC_012920.1:m.7789G>A	noncoding	Benign
MT	7805	G	A	G7805A	MT-CO2	NC_012920.1:m.7805G>A	noncoding	Benign
MT	7830	G	A	G7830A	MT-CO2	NC_012920.1:m.7830G>A	noncoding	Benign
MT	7844	A	G	A7844G	MT-CO2	NC_012920.1:m.7844A>G	noncoding	Benign
MT	7853	G	A	G7853A	MT-CO2	NC_012920.1:m.7853G>A	noncoding	Benign
MT	7854	T	C	T7854C	MT-CO2	NC_012920.1:m.7854T>C	noncoding	Benign
MT	7859	G	A	G7859A	MT-CO2	NC_012920.1:m.7859G>A	noncoding	Benign
MT	7873	C	T	C7873T	MT-CO2	NC_012920.1:m.7873C>T	noncoding	Benign
MT	7896	G	A	G7896A	MT-CO2	m.7896G>A	noncoding	Pathogenic
MT	7934	A	G	A7934G	MT-CO2	NC_012920.1:m.7934A>G	noncoding	Benign
MT	7954	T	C	T7954C	MT-CO2	NC_012920.1:m.7954T>C	noncoding	Benign
MT	7964	T	C	T7964C	MT-CO2	NC_012920.1:m.7964T>C	noncoding	Benign
MT	7989	T	C	T7989C	MT-CO2	NC_012920.1:m.7989T>C	noncoding	Pathogenic
MT	8022	T	C	T8022C	MT-CO2	NC_012920.1:m.8022T>C	noncoding	Benign
MT	8026	A	T	A8026T	MT-CO2	NC_012920.1:m.8026A>T	noncoding	Benign
MT	8027	G	A	G8027A	MT-CO2	NC_012920.1:m.8027G>A	noncoding	Benign
MT	8080	C	T	C8080T	MT-CO2	NC_012920.1:m.8080C>T	noncoding	Benign
MT	8108	A	G	A8108G	MT-CO2	NC_012920.1:m.8108A>G	noncoding	Benign
MT	8206	G	A	G8206A	MT-CO2	NC_012920.1:m.8206G>A	noncoding	Benign
MT	8237	A	G	A8237G	MT-CO2	NC_012920.1:m.8237A>G	noncoding	Benign
MT	8269	G	A	G8269A	MT-CO2	NC_012920.1:m.8269G>A	noncoding	Benign
MT	8296	A	G	A8296G	MT-TK	m.8296A>G	noncoding	Benign
MT	8308	A	G	A8308G	MT-TK	NC_012920.1(MT-CYB):m.8308A>G	noncoding	Benign
MT	8311	T	C	T8311C	MT-TK	NC_012920.1(MT-CYB):m.8311T>C	noncoding	Benign
MT	8313	G	A	G8313A	MT-TK	m.8313G>A	noncoding	Pathogenic
MT	8337	T	C	T8337C	MT-TK	NC_012920.1(MT-CYB):m.8337T>C	noncoding	Benign
MT	8343	A	G	A8343G	MT-TK	NC_012920.1(MT-CYB):m.8343A>G	noncoding	Benign
MT	8344	A	G	A8344G	MT-TK	m.8344A>G	noncoding	Pathogenic
MT	8345	C	T	C8345T	MT-TK	NC_012920.1(MT-CYB):m.8345C>T	noncoding	Benign
MT	8347	A	G	A8347G	MT-TK	NC_012920.1(MT-CYB):m.8347A>G	noncoding	Benign
MT	8348	A	G	A8348G	MT-TK	NC_012920.1(MT-CYB):m.8348A>G	noncoding	Benign/Likely_benign
MT	8349	C	T	C8349T	MT-TK	NC_012920.1(MT-CYB):m.8349C>T	noncoding	Benign
MT	8356	T	C	T8356C	MT-TK	m.8356T>C	noncoding	Pathogenic
MT	8360	A	G	A8360G	MT-TK	NC_012920.1(MT-CYB):m.8360A>G	noncoding	Benign
MT	8361	G	A	G8361A	MT-TK	m.8361G>A	noncoding	Pathogenic
MT	8362	T	G	T8362G	MT-TK	NC_012920.1(MT-CYB):m.8362T>G	noncoding	Pathogenic
MT	8363	G	A	G8363A	MT-TK	m.8363G>A	noncoding	Pathogenic
MT	8381	A	G	A8381G	MT-ATP8	NC_012920.1:m.8381A>G	noncoding	Benign
MT	8387	G	A	G8387A	MT-ATP8	NC_012920.1:m.8387G>A	noncoding	Benign
MT	8388	T	C	T8388C	MT-ATP8	NC_012920.1:m.8388T>C	noncoding	Benign
MT	8393	C	T	C8393T	MT-ATP8	m.8393C>T	noncoding	Benign
MT	8396	A	G	A8396G	MT-ATP8	NC_012920.1:m.8396A>G	noncoding	Benign
MT	8400	T	C	T8400C	MT-ATP8	NC_012920.1:m.8400T>C	noncoding	Benign
MT	8406	C	T	C8406T	MT-ATP8	NC_012920.1:m.8406C>T	noncoding	Benign
MT	8414	C	T	C8414T	MT-ATP8	NC_012920.1:m.8414C>T	noncoding	Benign
MT	8417	C	T	C8417T	MT-ATP8	NC_012920.1:m.8417C>T	noncoding	Benign
MT	8426	T	C	T8426C	MT-ATP8	NC_012920.1:m.8426T>C	noncoding	Benign
MT	8429	C	T	C8429T	MT-ATP8	NC_012920.1:m.8429C>T	noncoding	Benign
MT	8433	T	C	T8433C	MT-ATP8	NC_012920.1:m.8433T>C	noncoding	Benign
MT	8435	A	G	A8435G	MT-ATP8	NC_012920.1:m.8435A>G	noncoding	Benign
MT	8448	T	C	T8448C	MT-ATP8	NC_012920.1:m.8448T>C	noncoding	Benign
MT	8454	A	G	A8454G	MT-ATP8	NC_012920.1:m.8454A>G	noncoding	Benign
MT	8460	A	G	A8460G	MT-ATP8	NC_012920.1:m.8460A>G	noncoding	Benign
MT	8462	T	C	T8462C	MT-ATP8	NC_012920.1:m.8462T>C	noncoding	Benign
MT	8463	A	G	A8463G	MT-ATP8	NC_012920.1:m.8463A>G	noncoding	Benign
MT	8472	C	T	C8472T	MT-ATP8	NC_012920.1:m.8472C>T	noncoding	Benign
MT	8477	T	C	T8477C	MT-ATP8	NC_012920.1:m.8477T>C	noncoding	Benign
MT	8478	C	T	C8478T	MT-ATP8	NC_012920.1:m.8478C>T	noncoding	Benign
MT	8490	T	C	T8490C	MT-ATP8	NC_012920.1:m.8490T>C	noncoding	Benign
MT	8496	T	C	T8496C	MT-ATP8	NC_012920.1:m.8496T>C	noncoding	Benign
MT	8502	A	G	A8502G	MT-ATP8	NC_012920.1:m.8502A>G	noncoding	Benign
MT	8504	T	C	T8504C	MT-ATP8	NC_012920.1:m.8504T>C	noncoding	Benign
MT	8508	A	G	A8508G	MT-ATP8	NC_012920.1:m.8508A>G	noncoding	Benign
MT	8519	G	A	G8519A	MT-ATP8	NC_012920.1(MT-ATP8):m.8519G>A	noncoding	Benign/Likely_benign
MT	8522	C	T	C8522T	MT-ATP8	NC_012920.1:m.8522C>T	noncoding	Benign
MT	8527	A	G	A8527G	MT-ATP6;MT-ATP8	NC_012920.1:m.8527A>G	noncoding	Benign/Likely_benign
MT	8528	T	C	T8528C	MT-ATP6;MT-ATP8	m.8528T>C	noncoding	Pathogenic
MT	8529	G	A	G8529A	MT-ATP8	m.8529G>A	noncoding	Pathogenic
MT	8537	A	G	A8537G	MT-ATP6;MT-ATP8	NC_012920.1:m.8537A>G	noncoding	Benign
MT	8541	G	A	G8541A	MT-ATP6;MT-ATP8	NC_012920.1:m.8541G>A	noncoding	Benign
MT	8542	T	C	T8542C	MT-ATP6;MT-ATP8	NC_012920.1:m.8542T>C	noncoding	Benign
MT	8545	G	A	G8545A	MT-ATP6;MT-ATP8	NC_012920.1:m.8545G>A	noncoding	Benign
MT	8548	T	C	T8548C	MT-ATP6;MT-ATP8	NC_012920.1:m.8548T>C	noncoding	Benign
MT	8552	T	C	T8552C	MT-ATP6;MT-ATP8	NC_012920.1:m.8552T>C	noncoding	Benign
MT	8557	G	A	G8557A	MT-ATP6;MT-ATP8	NC_012920.1:m.8557G>A	noncoding	Benign
MT	8562	C	T	C8562T	MT-ATP6;MT-ATP8	NC_012920.1:m.8562C>T	noncoding	Benign
MT	8563	A	G	A8563G	MT-ATP6;MT-ATP8	NC_012920.1:m.8563A>G	noncoding	Benign
MT	8566	A	G	A8566G	MT-ATP6;MT-ATP8	NC_012920.1:m.8566A>G	noncoding	Benign
MT	8567	T	C	T8567C	MT-ATP6;MT-ATP8	NC_012920.1:m.8567T>C	noncoding	Benign
MT	8572	G	A	G8572A	MT-ATP6;MT-ATP8	NC_012920.1:m.8572G>A	noncoding	Benign
MT	8573	G	A	G8573A	MT-ATP6	NC_012920.1:m.8573G>A	noncoding	Benign
MT	8578	C	T	C8578T	MT-ATP6	NC_012920.1:m.8578C>T	noncoding	Benign
MT	8581	G	A	G8581A	MT-ATP6	NC_012920.1:m.8581G>A	noncoding	Benign
MT	8582	C	T	C8582T	MT-ATP6	NC_012920.1:m.8582C>T	noncoding	Benign
MT	8584	G	A	G8584A	MT-ATP6	NC_012920.1:m.8584G>A	noncoding	Benign
MT	8588	T	C	T8588C	MT-ATP6	NC_012920.1:m.8588T>C	noncoding	Benign
MT	8602	T	C	T8602C	MT-ATP6	NC_012920.1:m.8602T>C	noncoding	Benign
MT	8603	T	C	T8603C	MT-ATP6	NC_012920.1:m.8603T>C	noncoding	Benign
MT	8616	G	T	G8616T	MT-ATP6	NC_012920.1(MT-ATP6):m.8616G>T	noncoding	Benign/Likely_benign
MT	8618	T	C	T8618C	MT-ATP6	NC_012920.1:m.8618T>C	noncoding	Benign
MT	8632	T	C	T8632C	MT-ATP6	NC_012920.1:m.8632T>C	noncoding	Benign
MT	8639	T	C	T8639C	MT-ATP6	NC_012920.1:m.8639T>C	noncoding	Benign
MT	8642	A	G	A8642G	MT-ATP6	NC_012920.1:m.8642A>G	noncoding	Benign
MT	8653	A	G	A8653G	MT-ATP6	NC_012920.1:m.8653A>G	noncoding	Benign
MT	8654	T	C	T8654C	MT-ATP6	NC_012920.1:m.8654T>C	noncoding	Benign
MT	8659	A	G	A8659G	MT-ATP6	NC_012920.1:m.8659A>G	noncoding	Benign
MT	8668	T	C	T8668C	MT-ATP6	NC_012920.1:m.8668T>C	noncoding	Benign
MT	8681	T	C	T8681C	MT-ATP6	NC_012920.1:m.8681T>C	noncoding	Benign
MT	8683	A	G	A8683G	MT-ATP6	NC_012920.1:m.8683A>G	noncoding	Benign
MT	8684	C	T	C8684T	MT-ATP6	NC_012920.1:m.8684C>T	noncoding	Benign
MT	8701	A	G	A8701G	MT-ATP6	NC_012920.1:m.8701A>G	noncoding	Benign
MT	8702	C	T	C8702T	MT-ATP6	NC_012920.1:m.8702C>T	noncoding	Benign
MT	8705	T	C	T8705C	MT-ATP6	NC_012920.1:m.8705T>C	noncoding	Benign
MT	8723	G	A	G8723A	MT-ATP6	NC_012920.1:m.8723G>A	noncoding	Benign
MT	8725	A	G	A8725G	MT-ATP6	NC_012920.1:m.8725A>G	noncoding	Benign
MT	8752	A	G	A8752G	MT-ATP6	NC_012920.1:m.8752A>G	noncoding	Benign
MT	8756	T	C	T8756C	MT-ATP6	NC_012920.1:m.8756T>C	noncoding	Benign
MT	8762	T	C	T8762C	MT-ATP6	NC_012920.1:m.8762T>C	noncoding	Benign
MT	8764	G	A	G8764A	MT-ATP6	NC_012920.1:m.8764G>A	noncoding	Benign
MT	8768	C	T	C8768T	MT-ATP6	NC_012920.1:m.8768C>T	noncoding	Benign
MT	8794	C	T	C8794T	MT-ATP6	NC_012920.1:m.8794C>T	noncoding	Benign
MT	8812	A	G	A8812G	MT-ATP6	NC_012920.1:m.8812A>G	noncoding	Benign
MT	8836	A	G	A8836G	MT-ATP6	NC_012920.1:m.8836A>G	noncoding	Benign
MT	8839	G	A	G8839A	MT-ATP6	NC_012920.1:m.8839G>A	noncoding	Benign
MT	8839	G	C	G8839C	MT-ATP6	NC_012920.1:m.8839G>C	noncoding	Pathogenic
MT	8842	A	G	A8842G	MT-ATP6	NC_012920.1:m.8842A>G	noncoding	Benign
MT	8843	T	C	T8843C	MT-ATP6	NC_012920.1:m.8843T>C	noncoding	Benign
MT	8854	G	A	G8854A	MT-ATP6	NC_012920.1:m.8854G>A	noncoding	Benign
MT	8857	G	A	G8857A	MT-ATP6	NC_012920.1:m.8857G>A	noncoding	Benign
MT	8860	A	G	A8860G	MT-ATP6	NC_012920.1:m.8860A>G	noncoding	Benign
MT	8864	T	C	T8864C	MT-ATP6	NC_012920.1:m.8864T>C	noncoding	Benign
MT	8865	G	A	G8865A	MT-ATP6	NC_012920.1:m.8865G>A	noncoding	Benign
MT	8866	A	G	A8866G	MT-ATP6	NC_012920.1:m.8866A>G	noncoding	Benign
MT	8869	A	G	A8869G	MT-ATP6	NC_012920.1:m.8869A>G	noncoding	Benign
MT	8870	T	C	T8870C	MT-ATP6	NC_012920.1:m.8870T>C	noncoding	Benign
MT	8875	T	C	T8875C	MT-ATP6	NC_012920.1:m.8875T>C	noncoding	Benign
MT	8887	A	G	A8887G	MT-ATP6	NC_012920.1:m.8887A>G	noncoding	Benign
MT	8896	G	A	G8896A	MT-ATP6	NC_012920.1:m.8896G>A	noncoding	Benign
MT	8897	C	T	C8897T	MT-ATP6	NC_012920.1:m.8897C>T	noncoding	Benign
MT	8910	C	A	C8910A	MT-ATP6	NC_012920.1:m.8910C>A	noncoding	Benign
MT	8932	C	T	C8932T	MT-ATP6	NC_012920.1(MT-ATP6):m.8932C>T	noncoding	Benign/Likely_benign
MT	8938	A	G	A8938G	MT-ATP6	NC_012920.1:m.8938A>G	noncoding	Benign
MT	8950	G	A	G8950A	MT-ATP6	NC_012920.1:m.8950G>A	noncoding	Benign
MT	8962	A	G	A8962G	MT-ATP6	NC_012920.1:m.8962A>G	noncoding	Benign
MT	8969	G	A	G8969A	MT-ATP6	NC_012920.1:m.8969G>A	noncoding	Pathogenic
MT	8978	T	C	T8978C	MT-ATP6	NC_012920.1:m.8978T>C	noncoding	Benign
MT	8989	G	C	G8989C	MT-ATP6	NC_012920.1:m.8989G>C	noncoding	Pathogenic
MT	8993	T	C	T8993C	MT-ATP6	NC_012920.1:m.8993T>C	noncoding	Pathogenic
MT	8993	T	G	T8993G	MT-ATP6	NC_012920.1:m.8993T>G	noncoding	Pathogenic
MT	8998	G	A	G8998A	MT-ATP6	NC_012920.1:m.8998G>A	noncoding	Benign
MT	9007	A	G	A9007G	MT-ATP6	NC_012920.1:m.9007A>G	noncoding	Benign
MT	9025	G	A	G9025A	MT-ATP6	NC_012920.1:m.9025G>A	noncoding	Benign
MT	9032	T	C	T9032C	MT-ATP6	NC_012920.1:m.9032T>C	noncoding	Pathogenic
MT	9035	T	C	T9035C	MT-ATP6	NC_012920.1(MT-ATP6):m.9035T>C	noncoding	Pathogenic
MT	9041	A	G	A9041G	MT-ATP6	NC_012920.1:m.9041A>G	noncoding	Benign
MT	9052	A	G	A9052G	MT-ATP6	NC_012920.1:m.9052A>G	noncoding	Benign
MT	9053	G	A	G9053A	MT-ATP6	NC_012920.1:m.9053G>A	noncoding	Benign
MT	9055	G	A	G9055A	MT-ATP6	NC_012920.1:m.9055G>A	noncoding	Benign
MT	9056	C	T	C9056T	MT-ATP6	NC_012920.1:m.9056C>T	noncoding	Benign
MT	9058	A	G	A9058G	MT-ATP6	NC_012920.1:m.9058A>G	noncoding	Benign
MT	9064	G	A	G9064A	MT-ATP6	NC_012920.1:m.9064G>A	noncoding	Benign
MT	9067	A	G	A9067G	MT-ATP6	NC_012920.1:m.9067A>G	noncoding	Benign
MT	9070	T	G	T9070G	MT-ATP6	NC_012920.1:m.9070T>G	noncoding	Benign
MT	9077	T	C	T9077C	MT-ATP6	NC_012920.1:m.9077T>C	noncoding	Benign
MT	9080	A	G	A9080G	MT-ATP6	NC_012920.1:m.9080A>G	noncoding	Benign
MT	9083	T	C	T9083C	MT-ATP6	NC_012920.1:m.9083T>C	noncoding	Benign
MT	9088	T	C	T9088C	MT-ATP6	NC_012920.1:m.9088T>C	noncoding	Benign
MT	9094	C	T	C9094T	MT-ATP6	NC_012920.1:m.9094C>T	noncoding	Benign
MT	9097	A	G	A9097G	MT-ATP6	NC_012920.1:m.9097A>G	noncoding	Benign
MT	9098	T	C	T9098C	MT-ATP6	NC_012920.1:m.9098T>C	noncoding	Benign
MT	9098	T	G	T9098G	MT-ATP6	NC_012920.1:m.9098T>G	noncoding	Benign
MT	9100	A	G	A9100G	MT-ATP6	NC_012920.1:m.9100A>G	noncoding	Benign
MT	9101	T	C	T9101C	MT-ATP6	m.9101T>C	noncoding	Benign
MT	9101	T	G	T9101G	MT-ATP6	NC_012920.1:m.9101T>G	noncoding	Benign
MT	9103	T	C	T9103C	MT-ATP6	NC_012920.1:m.9103T>C	noncoding	Benign
MT	9110	T	C	T9110C	MT-ATP6	NC_012920.1:m.9110T>C	noncoding	Benign
MT	9115	A	G	A9115G	MT-ATP6	NC_012920.1:m.9115A>G	noncoding	Benign
MT	9116	T	C	T9116C	MT-ATP6	NC_012920.1:m.9116T>C	noncoding	Benign
MT	9127	A	G	A9127G	MT-ATP6	NC_012920.1:m.9127A>G	noncoding	Benign
MT	9128	T	C	T9128C	MT-ATP6	NC_012920.1:m.9128T>C	noncoding	Benign
MT	9137	T	C	T9137C	MT-ATP6	NC_012920.1:m.9137T>C	noncoding	Benign
MT	9139	G	A	G9139A	MT-ATP6	NC_012920.1:m.9139G>A	noncoding	Benign
MT	9142	G	A	G9142A	MT-ATP6	NC_012920.1:m.9142G>A	noncoding	Benign
MT	9145	G	A	G9145A	MT-ATP6	NC_012920.1:m.9145G>A	noncoding	Benign
MT	9151	A	G	A9151G	MT-ATP6	NC_012920.1:m.9151A>G	noncoding	Benign
MT	9163	G	A	G9163A	MT-ATP6	NC_012920.1:m.9163G>A	noncoding	Benign
MT	9176	T	C	T9176C	MT-ATP6	NC_012920.1:m.9176T>C	noncoding	Pathogenic
MT	9176	T	G	T9176G	MT-ATP6	NC_012920.1:m.9176T>G	noncoding	Pathogenic
MT	9181	A	G	A9181G	MT-ATP6	NC_012920.1:m.9181A>G	noncoding	Benign
MT	9182	G	A	G9182A	MT-ATP6	NC_012920.1:m.9182G>A	noncoding	Benign
MT	9191	T	C	T9191C	MT-ATP6	NC_012920.1:m.9191T>C	noncoding	Pathogenic
MT	9196	G	A	G9196A	MT-ATP6	NC_012920.1:m.9196G>A	noncoding	Benign
MT	9210	A	G	A9210G	MT-CO3	NC_012920.1:m.9210A>G	noncoding	Benign
MT	9211	C	T	C9211T	MT-CO3	NC_012920.1:m.9211C>T	noncoding	Benign
MT	9288	A	G	A9288G	MT-CO3	NC_012920.1:m.9288A>G	noncoding	Benign
MT	9300	G	A	G9300A	MT-CO3	NC_012920.1:m.9300G>A	noncoding	Benign
MT	9316	T	C	T9316C	MT-CO3	NC_012920.1:m.9316T>C	noncoding	Benign
MT	9324	A	G	A9324G	MT-CO3	NC_012920.1:m.9324A>G	noncoding	Benign
MT	9325	T	C	T9325C	MT-CO3	NC_012920.1:m.9325T>C	noncoding	Benign
MT	9336	A	G	A9336G	MT-CO3	NC_012920.1:m.9336A>G	noncoding	Benign
MT	9337	T	C	T9337C	MT-CO3	NC_012920.1:m.9337T>C	noncoding	Benign
MT	9355	A	G	A9355G	MT-CO3	NC_012920.1:m.9355A>G	noncoding	Benign
MT	9379	G	A	G9379A	MT-CO3	m.9379G>A	noncoding	Pathogenic
MT	9391	C	T	C9391T	MT-CO3	NC_012920.1:m.9391C>T	noncoding	Benign
MT	9438	G	A	G9438A	MT-CO3	m.9438G>A	noncoding	Benign
MT	9448	A	G	A9448G	MT-CO3	NC_012920.1:m.9448A>G	noncoding	Benign
MT	9468	A	G	A9468G	MT-CO3	NC_012920.1:m.9468A>G	noncoding	Benign
MT	9469	C	T	C9469T	MT-CO3	NC_012920.1:m.9469C>T	noncoding	Benign
MT	9477	G	A	G9477A	MT-CO3	NC_012920.1:m.9477G>A	noncoding	Benign
MT	9478	T	C	T9478C	MT-CO3	NC_012920.1:m.9478T>C	noncoding	Pathogenic
MT	9495	T	C	T9495C	MT-CO3	NC_012920.1:m.9495T>C	noncoding	Benign
MT	9531	A	G	A9531G	MT-CO3	NC_012920.1:m.9531A>G	noncoding	Benign
MT	9545	A	G	A9545G	MT-CO3	NC_012920.1:m.9545A>G	noncoding	Benign
MT	9591	G	A	G9591A	MT-CO3	NC_012920.1:m.9591G>A	noncoding	Benign
MT	9604	A	G	A9604G	MT-CO3	NC_012920.1:m.9604A>G	noncoding	Benign
MT	9612	G	A	G9612A	MT-CO3	NC_012920.1:m.9612G>A	noncoding	Benign
MT	9621	G	A	G9621A	MT-CO3	NC_012920.1:m.9621G>A	noncoding	Benign
MT	9664	A	G	A9664G	MT-CO3	NC_012920.1:m.9664A>G	noncoding	Benign
MT	9667	A	G	A9667G	MT-CO3	NC_012920.1:m.9667A>G	noncoding	Benign
MT	9670	A	G	A9670G	MT-CO3	NC_012920.1:m.9670A>G	noncoding	Benign
MT	9682	T	C	T9682C	MT-CO3	NC_012920.1:m.9682T>C	noncoding	Benign
MT	9738	G	A	G9738A	MT-CO3	NC_012920.1:m.9738G>A	noncoding	Benign
MT	9756	T	G	T9756G	MT-CO3	NC_012920.1:m.9756T>G	noncoding	Benign
MT	9777	G	A	G9777A	MT-CO3	NC_012920.1:m.9777G>A	noncoding	Benign
MT	9801	G	A	G9801A	MT-CO3	NC_012920.1:m.9801G>A	noncoding	Benign
MT	9852	A	G	A9852G	MT-CO3	NC_012920.1:m.9852A>G	noncoding	Benign
MT	9855	A	G	A9855G	MT-CO3	NC_012920.1:m.9855A>G	noncoding	Benign
MT	9861	T	C	T9861C	MT-CO3	NC_012920.1(MT-CO3):m.9861T>C	noncoding	Benign/Likely_benign
MT	9903	T	C	T9903C	MT-CO3	NC_012920.1:m.9903T>C	noncoding	Benign
MT	9909	T	C	T9909C	MT-CO3	NC_012920.1:m.9909T>C	noncoding	Benign
MT	9921	G	A	G9921A	MT-CO3	NC_012920.1:m.9921G>A	noncoding	Benign
MT	9947	G	A	G9947A	MT-CO3	NC_012920.1:m.9947G>A	noncoding	Benign
MT	9948	G	A	G9948A	MT-CO3	NC_012920.1:m.9948G>A	noncoding	Benign
MT	9952	G	A	G9952A	MT-CO3	m.9952G>A	noncoding	Pathogenic
MT	9957	T	C	T9957C	MT-CO3	NC_012920.1:m.9957T>C	noncoding	Benign
MT	9966	G	A	G9966A	MT-CO3	NC_012920.1(MT-CO3):m.9966G>A	noncoding	Benign/Likely_benign
MT	9997	T	C	T9997C	MT-TG	m.9997T>C	noncoding	Pathogenic
MT	10003	T	C	T10003C	MT-TG	NC_012920.1(MT-CYB):m.10003T>C	noncoding	Benign
MT	10005	A	G	A10005G	MT-TG	NC_012920.1(MT-CYB):m.10005A>G	noncoding	Benign
MT	10006	A	G	A10006G	MT-TG	NC_012920.1(MT-CYB):m.10006A>G	noncoding	Benign
MT	10007	T	C	T10007C	MT-TG	NC_012920.1(MT-CYB):m.10007T>C	noncoding	Benign
MT	10010	T	C	T10010C	MT-TG	m.10010T>C	noncoding	Pathogenic
MT	10018	A	G	A10018G	MT-TG	NC_012920.1:m.10018A>G	noncoding	Benign
MT	10029	A	G	A10029G	MT-TG	NC_012920.1(MT-CYB):m.10029A>G	noncoding	Benign
MT	10031	T	C	T10031C	MT-TG	NC_012920.1(MT-CYB):m.10031T>C	noncoding	Benign
MT	10034	T	C	T10034C	MT-TG	NC_012920.1(MT-CYB):m.10034T>C	noncoding	Benign
MT	10042	A	G	A10042G	MT-TG	NC_012920.1(MT-CYB):m.10042A>G	noncoding	Benign
MT	10044	A	G	A10044G	MT-TG	m.10044A>G	noncoding	Benign
MT	10045	T	C	T10045C	MT-TG	NC_012920.1(MT-CYB):m.10045T>C	noncoding	Benign
MT	10084	T	C	T10084C	MT-ND3	NC_012920.1(MT-ND3):m.10084T>C	noncoding	Benign/Likely_benign
MT	10086	A	G	A10086G	MT-ND3	NC_012920.1:m.10086A>G	noncoding	Benign
MT	10134	C	A	C10134A	MT-ND3	NC_012920.1:m.10134C>A	noncoding	Pathogenic
MT	10143	G	A	G10143A	MT-ND3	NC_012920.1:m.10143G>A	noncoding	Benign
MT	10158	T	C	T10158C	MT-ND3	m.10158T>C	noncoding	Pathogenic
MT	10191	T	C	T10191C	MT-ND3	m.10191T>C	noncoding	Pathogenic
MT	10192	C	T	C10192T	MT-ND3	NC_012920.1:m.10192C>T	noncoding	Benign
MT	10197	G	A	G10197A	MT-ND3	m.10197G>A	noncoding	Pathogenic
MT	10203	G	A	G10203A	MT-ND3	NC_012920.1:m.10203G>A	noncoding	Benign
MT	10237	T	C	T10237C	MT-ND3	m.10237T>C	noncoding	Benign
MT	10254	G	A	G10254A	MT-ND3	NC_012920.1:m.10254G>A	noncoding	Pathogenic
MT	10320	G	A	G10320A	MT-ND3	NC_012920.1:m.10320G>A	noncoding	Benign
MT	10321	T	C	T10321C	MT-ND3	NC_012920.1(MT-ND3):m.10321T>C	noncoding	Benign/Likely_benign
MT	10324	T	C	T10324C	MT-ND3	NC_012920.1:m.10324T>C	noncoding	Benign
MT	10345	T	C	T10345C	MT-ND3	NC_012920.1:m.10345T>C	noncoding	Benign
MT	10365	G	A	G10365A	MT-ND3	NC_012920.1:m.10365G>A	noncoding	Benign
MT	10398	A	G	A10398G	MT-ND3	m.10398A>G	noncoding	Benign
MT	10410	T	C	T10410C	MT-TR	NC_012920.1(MT-CYB):m.10410T>C	noncoding	Benign
MT	10411	A	G	A10411G	MT-TR	NC_012920.1(MT-CYB):m.10411A>G	noncoding	Benign
MT	10420	A	G	A10420G	MT-TR	NC_012920.1(MT-CYB):m.10420A>G	noncoding	Benign
MT	10427	G	A	G10427A	MT-TR	NC_012920.1(MT-CYB):m.10427G>A	noncoding	Benign
MT	10438	A	G	A10438G	MT-TR	m.10438A>G	noncoding	Pathogenic
MT	10440	T	C	T10440C	MT-TR	NC_012920.1(MT-CYB):m.10440T>C	noncoding	Benign
MT	10450	A	G	A10450G	MT-TR	m.10450A>G	noncoding	Pathogenic
MT	10454	T	C	T10454C	MT-TR	NC_012920.1(MT-CYB):m.10454T>C	noncoding	Benign
MT	10455	A	G	A10455G	MT-TR	NC_012920.1(MT-CYB):m.10455A>G	noncoding	Benign
MT	10463	T	C	T10463C	MT-TR	NC_012920.1(MT-CYB):m.10463T>C	noncoding	Benign
MT	10499	A	G	A10499G	MT-ND4L	NC_012920.1:m.10499A>G	noncoding	Benign
MT	10506	A	G	A10506G	MT-ND4L	NC_012920.1:m.10506A>G	noncoding	Benign
MT	10530	G	A	G10530A	MT-ND4L	NC_012920.1:m.10530G>A	noncoding	Benign
MT	10563	T	C	T10563C	MT-ND4L	m.10563T>C	noncoding	Pathogenic
MT	10609	T	C	T10609C	MT-ND4L	NC_012920.1:m.10609T>C	noncoding	Benign
MT	10653	G	A	G10653A	MT-ND4L	NC_012920.1:m.10653G>A	noncoding	Benign
MT	10654	C	T	C10654T	MT-ND4L	NC_012920.1:m.10654C>T	noncoding	Benign
MT	10663	T	C	T10663C	MT-ND4L	m.10663T>C	noncoding	Pathogenic
MT	10704	G	A	G10704A	MT-ND4L	NC_012920.1:m.10704G>A	noncoding	Benign
MT	10750	A	G	A10750G	MT-ND4L	NC_012920.1:m.10750A>G	noncoding	Benign
MT	10845	C	T	C10845T	MT-ND4	NC_012920.1:m.10845C>T	noncoding	Benign
MT	10895	A	G	A10895G	MT-ND4	NC_012920.1:m.10895A>G	noncoding	Benign
MT	10899	A	G	A10899G	MT-ND4	NC_012920.1:m.10899A>G	noncoding	Benign
MT	10907	T	C	T10907C	MT-ND4	NC_012920.1:m.10907T>C	noncoding	Benign
MT	10914	G	A	G10914A	MT-ND4	NC_012920.1:m.10914G>A	noncoding	Benign
MT	10920	C	T	C10920T	MT-ND4	NC_012920.1:m.10920C>T	noncoding	Benign
MT	11016	G	A	G11016A	MT-ND4	NC_012920.1:m.11016G>A	noncoding	Benign
MT	11025	T	C	T11025C	MT-ND4	NC_012920.1:m.11025T>C	noncoding	Benign
MT	11061	C	T	C11061T	MT-ND4	NC_012920.1:m.11061C>T	noncoding	Benign
MT	11084	A	G	A11084G	MT-ND4	m.11084A>G	noncoding	Benign
MT	11087	T	C	T11087C	MT-ND4	NC_012920.1:m.11087T>C	noncoding	Benign
MT	11150	G	A	G11150A	MT-ND4	NC_012920.1:m.11150G>A	noncoding	Benign
MT	11151	C	T	C11151T	MT-ND4	NC_012920.1:m.11151C>T	noncoding	Benign
MT	11172	A	G	A11172G	MT-ND4	NC_012920.1:m.11172A>G	noncoding	Benign
MT	11177	C	T	C11177T	MT-ND4	NC_012920.1:m.11177C>T	noncoding	Benign
MT	11204	T	C	T11204C	MT-ND4	NC_012920.1:m.11204T>C	noncoding	Benign
MT	11252	A	G	A11252G	MT-ND4	NC_012920.1:m.11252A>G	noncoding	Benign
MT	11253	T	C	T11253C	MT-ND4	m.11253T>C	noncoding	Benign
MT	11255	T	C	T11255C	MT-ND4	NC_012920.1:m.11255T>C	noncoding	Benign
MT	11337	A	G	A11337G	MT-ND4	NC_012920.1:m.11337A>G	noncoding	Benign
MT	11361	T	C	T11361C	MT-ND4	NC_012920.1:m.11361T>C	noncoding	Benign
MT	11447	G	A	G11447A	MT-ND4	NC_012920.1:m.11447G>A	noncoding	Benign
MT	11654	A	G	A11654G	MT-ND4	NC_012920.1:m.11654A>G	noncoding	Benign
MT	11696	G	A	G11696A	MT-ND4	m.11696G>A	noncoding	Benign
MT	11777	C	A	C11777A	MT-ND4	m.11777C>A	noncoding	Pathogenic
MT	11778	G	A	G11778A	MT-ND4	NC_012920.1:m.11778G>A	noncoding	Pathogenic
MT	11928	A	G	A11928G	MT-ND4	NC_012920.1:m.11928A>G	noncoding	Benign
MT	11963	G	A	G11963A	MT-ND4	NC_012920.1:m.11963G>A	noncoding	Benign
MT	11969	G	A	G11969A	MT-ND4	NC_012920.1:m.11969G>A	noncoding	Benign
MT	11984	T	C	T11984C	MT-ND4	NC_012920.1:m.11984T>C	noncoding	Benign
MT	12020	C	T	C12020T	MT-ND4	NC_012920.1:m.12020C>T	noncoding	Benign
MT	12026	A	G	A12026G	MT-ND4	NC_012920.1:m.12026A>G	noncoding	Benign
MT	12030	A	G	A12030G	MT-ND4	NC_012920.1:m.12030A>G	noncoding	Benign
MT	12063	C	T	C12063T	MT-ND4	NC_012920.1:m.12063C>T	noncoding	Benign
MT	12083	T	G	T12083G	MT-ND4	NC_012920.1:m.12083T>G	noncoding	Benign
MT	12084	C	T	C12084T	MT-ND4	NC_012920.1:m.12084C>T	noncoding	Benign
MT	12092	C	A	C12092A	MT-ND4	NC_012920.1:m.12092C>A	noncoding	Benign
MT	12092	C	T	C12092T	MT-ND4	NC_012920.1:m.12092C>T	noncoding	Benign
MT	12123	C	T	C12123T	MT-ND4	NC_012920.1:m.12123C>T	noncoding	Benign
MT	12135	C	A	C12135A	MT-ND4	NC_012920.1:m.12135C>A	noncoding	Benign
MT	12141	A	G	A12141G	MT-TH	NC_012920.1(MT-CYB):m.12141A>G	noncoding	Benign
MT	12142	A	G	A12142G	MT-TH	NC_012920.1(MT-CYB):m.12142A>G	noncoding	Benign
MT	12147	G	A	G12147A	MT-TH	m.12147G>A	noncoding	Pathogenic
MT	12151	A	G	A12151G	MT-TH	NC_012920.1(MT-CYB):m.12151A>G	noncoding	Benign
MT	12161	T	C	T12161C	MT-TH	NC_012920.1(MT-CYB):m.12161T>C	noncoding	Benign
MT	12166	T	C	T12166C	MT-TH	NC_012920.1(MT-CYB):m.12166T>C	noncoding	Benign
MT	12171	A	G	A12171G	MT-TH	NC_012920.1(MT-CYB):m.12171A>G	noncoding	Benign
MT	12172	A	G	A12172G	MT-TH	NC_012920.1(MT-CYB):m.12172A>G	noncoding	Benign
MT	12173	T	C	T12173C	MT-TH	NC_012920.1(MT-CYB):m.12173T>C	noncoding	Benign
MT	12178	C	T	C12178T	MT-TH	NC_012920.1(MT-CYB):m.12178C>T	noncoding	Benign
MT	12183	G	A	G12183A	MT-TH	m.12183G>A	noncoding	Pathogenic
MT	12188	T	C	T12188C	MT-TH	NC_012920.1(MT-CYB):m.12188T>C	noncoding	Benign
MT	12189	T	C	T12189C	MT-TH	NC_012920.1(MT-CYB):m.12189T>C	noncoding	Benign
MT	12191	C	T	C12191T	MT-TH	NC_012920.1(MT-CYB):m.12191C>T	noncoding	Benign
MT	12192	G	A	G12192A	MT-TH	m.12192G>A	noncoding	Benign
MT	12193	A	G	A12193G	MT-TH	NC_012920.1(MT-CYB):m.12193A>G	noncoding	Benign
MT	12207	G	A	G12207A	MT-TS2	m.12207G>A	noncoding	Pathogenic
MT	12215	T	C	T12215C	MT-TS2	NC_012920.1(MT-CYB):m.12215T>C	noncoding	Benign
MT	12216	C	T	C12216T	MT-TS2	NC_012920.1(MT-CYB):m.12216C>T	noncoding	Benign
MT	12217	A	G	A12217G	MT-TS2	NC_012920.1(MT-CYB):m.12217A>G	noncoding	Benign
MT	12223	A	G	A12223G	MT-TS2	NC_012920.1(MT-CYB):m.12223A>G	noncoding	Benign
MT	12234	A	G	A12234G	MT-TS2	NC_012920.1(MT-CYB):m.12234A>G	noncoding	Benign
MT	12235	T	C	T12235C	MT-TS2	NC_012920.1(MT-CYB):m.12235T>C	noncoding	Benign
MT	12237	C	T	C12237T	MT-TS2	NC_012920.1(MT-CYB):m.12237C>T	noncoding	Benign
MT	12239	C	T	C12239T	MT-TS2	NC_012920.1(MT-CYB):m.12239C>T	noncoding	Benign
MT	12245	T	C	T12245C	MT-TS2	NC_012920.1(MT-CYB):m.12245T>C	noncoding	Benign
MT	12246	C	T	C12246T	MT-TS2	NC_012920.1(MT-CYB):m.12246C>T	noncoding	Benign
MT	12248	A	G	A12248G	MT-TS2	NC_012920.1(MT-CYB):m.12248A>G	noncoding	Benign
MT	12258	C	A	C12258A	MT-TS2	m.12258C>A	noncoding	Pathogenic
MT	12271	T	C	T12271C	MT-TL2	NC_012920.1:m.12271T>C	noncoding	Pathogenic
MT	12276	G	A	G12276A	MT-TL2	NC_012920.1(MT-CYB):m.12276G>A	noncoding	Pathogenic
MT	12279	A	G	A12279G	MT-TL2	NC_012920.1(MT-CYB):m.12279A>G	noncoding	Benign
MT	12280	A	G	A12280G	MT-TL2	NC_012920.1(MT-CYB):m.12280A>G	noncoding	Benign
MT	12281	C	T	C12281T	MT-TL2	NC_012920.1(MT-CYB):m.12281C>T	noncoding	Benign
MT	12283	G	A	G12283A	MT-TL2	NC_012920.1:m.12283G>A	noncoding	Pathogenic
MT	12285	T	C	T12285C	MT-TL2	NC_012920.1(MT-CYB):m.12285T>C	noncoding	Benign
MT	12295	T	C	T12295C	MT-TL2	NC_012920.1(MT-CYB):m.12295T>C	noncoding	Benign
MT	12297	T	C	T12297C	MT-TL2	m.12297T>C	noncoding	Benign
MT	12308	A	G	A12308G	MT-TL2	NC_012920.1(MT-CYB):m.12308A>G	noncoding	Benign
MT	12311	T	C	T12311C	MT-TL2	NC_012920.1(MT-CYB):m.12311T>C	noncoding	Benign
MT	12315	G	A	G12315A	MT-TL2	m.12315G>A	noncoding	Pathogenic
MT	12320	A	G	A12320G	MT-TL2	m.12320A>G	noncoding	Pathogenic
MT	12338	T	C	T12338C	MT-ND5	m.12338T>C	noncoding	Benign
MT	12346	C	T	C12346T	MT-ND5	NC_012920.1(MT-ND5):m.12346C>T	noncoding	Benign/Likely_benign
MT	12358	A	G	A12358G	MT-ND5	NC_012920.1:m.12358A>G	noncoding	Benign
MT	12361	A	G	A12361G	MT-ND5	NC_012920.1:m.12361A>G	noncoding	Benign
MT	12362	C	T	C12362T	MT-ND5	NC_012920.1:m.12362C>T	noncoding	Benign
MT	12373	A	G	A12373G	MT-ND5	NC_012920.1:m.12373A>G	noncoding	Benign
MT	12397	A	G	A12397G	MT-ND5	m.12397A>G	noncoding	Benign
MT	12400	A	G	A12400G	MT-ND5	NC_012920.1:m.12400A>G	noncoding	Benign
MT	12403	C	T	C12403T	MT-ND5	NC_012920.1:m.12403C>T	noncoding	Benign
MT	12406	G	A	G12406A	MT-ND5	NC_012920.1:m.12406G>A	noncoding	Benign
MT	12425	A	G	A12425G	MT-ND5	NC_012920.1:m.12425A>G	noncoding	Benign
MT	12454	G	A	G12454A	MT-ND5	NC_012920.1:m.12454G>A	noncoding	Benign
MT	12490	A	G	A12490G	MT-ND5	NC_012920.1:m.12490A>G	noncoding	Benign
MT	12530	A	G	A12530G	MT-ND5	NC_012920.1:m.12530A>G	noncoding	Benign
MT	12535	C	T	C12535T	MT-ND5	NC_012920.1:m.12535C>T	noncoding	Benign
MT	12542	C	T	C12542T	MT-ND5	NC_012920.1:m.12542C>T	noncoding	Benign
MT	12557	C	T	C12557T	MT-ND5	NC_012920.1:m.12557C>T	noncoding	Benign
MT	12599	T	C	T12599C	MT-ND5	NC_012920.1:m.12599T>C	noncoding	Benign
MT	12634	A	G	A12634G	MT-ND5	NC_012920.1:m.12634A>G	noncoding	Benign
MT	12662	A	G	A12662G	MT-ND5	NC_012920.1(MT-ND5):m.12662A>G	noncoding	Benign
MT	12715	A	G	A12715G	MT-ND5	NC_012920.1(MT-ND5):m.12715A>G	noncoding	Benign
MT	12757	T	C	T12757C	MT-ND5	NC_012920.1:m.12757T>C	noncoding	Benign
MT	12770	A	G	A12770G	MT-ND5	m.12770A>G	noncoding	Pathogenic
MT	12820	G	A	G12820A	MT-ND5	NC_012920.1:m.12820G>A	noncoding	Benign
MT	12848	C	T	C12848T	MT-ND5	m.12848C>T	noncoding	Pathogenic
MT	12850	A	G	A12850G	MT-ND5	NC_012920.1:m.12850A>G	noncoding	Benign
MT	12880	T	C	T12880C	MT-ND5	NC_012920.1:m.12880T>C	noncoding	Benign
MT	12904	A	G	A12904G	MT-ND5	NC_012920.1:m.12904A>G	noncoding	Benign
MT	12923	G	T	G12923T	MT-ND5	NC_012920.1:m.12923G>T	noncoding	Benign
MT	12937	A	G	A12937G	MT-ND5	NC_012920.1:m.12937A>G	noncoding	Benign
MT	12940	G	A	G12940A	MT-ND5	NC_012920.1:m.12940G>A	noncoding	Benign
MT	12950	A	C	A12950C	MT-ND5	NC_012920.1:m.12950A>C	noncoding	Benign
MT	12950	A	G	A12950G	MT-ND5	NC_012920.1:m.12950A>G	noncoding	Benign
MT	12952	G	A	G12952A	MT-ND5	NC_012920.1:m.12952G>A	noncoding	Benign
MT	12961	A	G	A12961G	MT-ND5	NC_012920.1:m.12961A>G	noncoding	Benign
MT	12967	A	G	A12967G	MT-ND5	NC_012920.1:m.12967A>G	noncoding	Benign
MT	13042	G	A	G13042A	MT-ND5	m.13042G>A	noncoding	Pathogenic
MT	13045	A	C	A13045C	MT-ND5	m.13045A>C	noncoding	Pathogenic
MT	13084	A	T	A13084T	MT-ND5	m.13084A>T	noncoding	Pathogenic
MT	13094	T	C	T13094C	MT-ND5	NC_012920.1:m.13094T>C	noncoding	Pathogenic
MT	13105	A	G	A13105G	MT-ND5	NC_012920.1:m.13105A>G	noncoding	Benign
MT	13117	A	G	A13117G	MT-ND5	NC_012920.1:m.13117A>G	noncoding	Benign
MT	13129	C	T	C13129T	MT-ND5	NC_012920.1:m.13129C>T	noncoding	Benign
MT	13135	G	A	G13135A	MT-ND5	NC_012920.1:m.13135G>A	noncoding	Benign
MT	13145	G	A	G13145A	MT-ND5	NC_012920.1:m.13145G>A	noncoding	Benign
MT	13183	A	G	A13183G	MT-ND5	NC_012920.1:m.13183A>G	noncoding	Benign
MT	13184	T	C	T13184C	MT-ND5	NC_012920.1:m.13184T>C	noncoding	Benign
MT	13204	G	A	G13204A	MT-ND5	NC_012920.1:m.13204G>A	noncoding	Benign
MT	13276	A	G	A13276G	MT-ND5	NC_012920.1:m.13276A>G	noncoding	Benign
MT	13327	A	G	A13327G	MT-ND5	NC_012920.1:m.13327A>G	noncoding	Benign
MT	13466	G	C	G13466C	MT-ND5	NC_012920.1:m.13466G>C	noncoding	Benign
MT	13477	G	A	G13477A	MT-ND5	NC_012920.1:m.13477G>A	noncoding	Benign
MT	13513	G	A	G13513A	MT-ND5	m.13513G>A	noncoding	Pathogenic
MT	13514	A	G	A13514G	MT-ND5	NC_012920.1:m.13514A>G	noncoding	Pathogenic
MT	13535	A	G	A13535G	MT-ND5	NC_012920.1:m.13535A>G	noncoding	Benign
MT	13565	C	T	C13565T	MT-ND5	NC_012920.1:m.13565C>T	noncoding	Benign
MT	13594	A	G	A13594G	MT-ND5	NC_012920.1:m.13594A>G	noncoding	Benign
MT	13630	A	G	A13630G	MT-ND5	NC_012920.1:m.13630A>G	noncoding	Benign
MT	13637	A	G	A13637G	MT-ND5	m.13637A>G	noncoding	Benign
MT	13651	A	G	A13651G	MT-ND5	NC_012920.1:m.13651A>G	noncoding	Benign
MT	13681	A	G	A13681G	MT-ND5	NC_012920.1:m.13681A>G	noncoding	Benign
MT	13708	G	A	G13708A	MT-ND5	m.13708G>A	noncoding	Benign
MT	13711	G	A	G13711A	MT-ND5	NC_012920.1:m.13711G>A	noncoding	Benign
MT	13722	A	G	A13722G	MT-ND5	NC_012920.1:m.13722A>G	noncoding	Benign
MT	13730	G	A	G13730A	MT-ND5	m.13730G>A	noncoding	Pathogenic
MT	13741	A	G	A13741G	MT-ND5	NC_012920.1:m.13741A>G	noncoding	Benign
MT	13748	A	G	A13748G	MT-ND5	NC_012920.1:m.13748A>G	noncoding	Benign
MT	13753	T	C	T13753C	MT-ND5	NC_012920.1:m.13753T>C	noncoding	Benign
MT	13754	C	T	C13754T	MT-ND5	NC_012920.1:m.13754C>T	noncoding	Benign
MT	13759	G	A	G13759A	MT-ND5	NC_012920.1:m.13759G>A	noncoding	Benign
MT	13762	T	G	T13762G	MT-ND5	NC_012920.1:m.13762T>G	noncoding	Benign
MT	13768	T	C	T13768C	MT-ND5	NC_012920.1:m.13768T>C	noncoding	Benign
MT	13780	A	G	A13780G	MT-ND5	NC_012920.1:m.13780A>G	noncoding	Benign
MT	13781	T	C	T13781C	MT-ND5	NC_012920.1:m.13781T>C	noncoding	Benign
MT	13789	T	C	T13789C	MT-ND5	NC_012920.1:m.13789T>C	noncoding	Benign
MT	13802	C	T	C13802T	MT-ND5	NC_012920.1:m.13802C>T	noncoding	Benign
MT	13810	G	A	G13810A	MT-ND5	NC_012920.1:m.13810G>A	noncoding	Benign
MT	13813	G	A	G13813A	MT-ND5	NC_012920.1:m.13813G>A	noncoding	Benign
MT	13819	T	C	T13819C	MT-ND5	NC_012920.1:m.13819T>C	noncoding	Benign
MT	13820	T	C	T13820C	MT-ND5	NC_012920.1:m.13820T>C	noncoding	Benign
MT	13834	A	G	A13834G	MT-ND5	NC_012920.1:m.13834A>G	noncoding	Benign
MT	13862	A	G	A13862G	MT-ND5	NC_012920.1:m.13862A>G	noncoding	Benign
MT	13874	T	C	T13874C	MT-ND5	NC_012920.1:m.13874T>C	noncoding	Benign
MT	13879	T	C	T13879C	MT-ND5	NC_012920.1:m.13879T>C	noncoding	Benign
MT	13880	C	A	C13880A	MT-ND5	NC_012920.1:m.13880C>A	noncoding	Benign
MT	13886	T	C	T13886C	MT-ND5	NC_012920.1:m.13886T>C	noncoding	Benign
MT	13889	G	A	G13889A	MT-ND5	NC_012920.1:m.13889G>A	noncoding	Benign
MT	13924	C	T	C13924T	MT-ND5	NC_012920.1:m.13924C>T	noncoding	Benign
MT	13928	G	A	G13928A	MT-ND5	NC_012920.1:m.13928G>A	noncoding	Benign
MT	13928	G	C	G13928C	MT-ND5	NC_012920.1:m.13928G>C	noncoding	Benign
MT	13933	A	G	A13933G	MT-ND5	NC_012920.1:m.13933A>G	noncoding	Benign
MT	13934	C	T	C13934T	MT-ND5	NC_012920.1:m.13934C>T	noncoding	Benign
MT	13943	C	T	C13943T	MT-ND5	NC_012920.1:m.13943C>T	noncoding	Benign
MT	13948	C	T	C13948T	MT-ND5	NC_012920.1:m.13948C>T	noncoding	Benign
MT	13958	G	C	G13958C	MT-ND5	NC_012920.1:m.13958G>C	noncoding	Benign
MT	13966	A	G	A13966G	MT-ND5	NC_012920.1:m.13966A>G	noncoding	Benign
MT	13967	C	T	C13967T	MT-ND5	NC_012920.1:m.13967C>T	noncoding	Benign
MT	13973	A	T	A13973T	MT-ND5	NC_012920.1:m.13973A>T	noncoding	Benign
MT	13981	C	T	C13981T	MT-ND5	NC_012920.1:m.13981C>T	noncoding	Benign
MT	14000	T	A	T14000A	MT-ND5	NC_012920.1(MT-ND5):m.14000T>A	noncoding	Benign/Likely_benign
MT	14002	A	G	A14002G	MT-ND5	NC_012920.1(MT-ND5):m.14002A>G	noncoding	Benign/Likely_benign
MT	14003	C	T	C14003T	MT-ND5	NC_012920.1:m.14003C>T	noncoding	Benign
MT	14041	C	T	C14041T	MT-ND5	NC_012920.1:m.14041C>T	noncoding	Benign
MT	14053	A	G	A14053G	MT-ND5	NC_012920.1:m.14053A>G	noncoding	Benign
MT	14059	A	G	A14059G	MT-ND5	NC_012920.1:m.14059A>G	noncoding	Benign
MT	14063	T	C	T14063C	MT-ND5	NC_012920.1:m.14063T>C	noncoding	Benign
MT	14071	A	G	A14071G	MT-ND5	NC_012920.1:m.14071A>G	noncoding	Benign
MT	14110	T	C	T14110C	MT-ND5	NC_012920.1:m.14110T>C	noncoding	Benign
MT	14122	A	G	A14122G	MT-ND5	NC_012920.1:m.14122A>G	noncoding	Benign
MT	14128	A	G	A14128G	MT-ND5	NC_012920.1:m.14128A>G	noncoding	Benign
MT	14129	C	T	C14129T	MT-ND5	NC_012920.1:m.14129C>T	noncoding	Benign
MT	14133	A	G	A14133G	MT-ND5	NC_012920.1:m.14133A>G	noncoding	Benign
MT	14142	C	G	C14142G	MT-ND5	NC_012920.1:m.14142C>G	noncoding	Benign
MT	14162	G	A	G14162A	MT-ND6	NC_012920.1:m.14162G>A	noncoding	Benign
MT	14163	C	T	C14163T	MT-ND6	NC_012920.1:m.14163C>T	noncoding	Benign
MT	14178	T	C	T14178C	MT-ND6	NC_012920.1:m.14178T>C	noncoding	Benign
MT	14180	T	C	T14180C	MT-ND6	NC_012920.1:m.14180T>C	noncoding	Benign
MT	14198	G	A	G14198A	MT-ND6	NC_012920.1:m.14198G>A	noncoding	Benign
MT	14207	G	A	G14207A	MT-ND6	NC_012920.1:m.14207G>A	noncoding	Benign
MT	14211	C	T	C14211T	MT-ND6	NC_012920.1:m.14211C>T	noncoding	Benign
MT	14226	G	A	G14226A	MT-ND6	NC_012920.1:m.14226G>A	noncoding	Benign
MT	14249	G	A	G14249A	MT-ND6	NC_012920.1:m.14249G>A	noncoding	Benign
MT	14256	T	C	T14256C	MT-ND6	NC_012920.1:m.14256T>C	noncoding	Benign
MT	14258	G	A	G14258A	MT-ND6	NC_012920.1:m.14258G>A	noncoding	Benign
MT	14259	G	A	G14259A	MT-ND6	NC_012920.1:m.14259G>A	noncoding	Benign
MT	14280	A	G	A14280G	MT-ND6	NC_012920.1:m.14280A>G	noncoding	Benign
MT	14312	A	G	A14312G	MT-ND6	NC_012920.1:m.14312A>G	noncoding	Benign
MT	14315	C	T	C14315T	MT-ND6	NC_012920.1:m.14315C>T	noncoding	Benign
MT	14318	T	C	T14318C	MT-ND6	NC_012920.1:m.14318T>C	noncoding	Benign
MT	14319	T	C	T14319C	MT-ND6	m.14319T>C	noncoding	Benign
MT	14325	T	C	T14325C	MT-ND6	m.14325T>C	noncoding	Benign
MT	14384	G	A	G14384A	MT-ND6	NC_012920.1:m.14384G>A	noncoding	Benign
MT	14393	A	G	A14393G	MT-ND6	NC_012920.1(MT-ND6):m.14393A>G	noncoding	Benign/Likely_benign
MT	14405	A	G	A14405G	MT-ND6	NC_012920.1:m.14405A>G	noncoding	Benign
MT	14417	A	G	A14417G	MT-ND6	NC_012920.1:m.14417A>G	noncoding	Benign
MT	14433	C	T	C14433T	MT-ND6	NC_012920.1:m.14433C>T	noncoding	Benign
MT	14459	G	A	G14459A	MT-ND6	m.14459G>A	noncoding	Pathogenic
MT	14476	G	A	G14476A	MT-ND6	NC_012920.1:m.14476G>A	noncoding	Benign
MT	14482	C	A	C14482A	MT-ND6	m.14482C>A	noncoding	Pathogenic
MT	14482	C	G	C14482G	MT-ND6	m.14482C>G	noncoding	Pathogenic
MT	14484	T	C	T14484C	MT-ND6	NC_012920.1:m.14484T>C	noncoding	Pathogenic
MT	14487	T	C	T14487C	MT-ND6	m.14487T>C	noncoding	Pathogenic
MT	14495	A	G	A14495G	MT-ND6	m.14495A>G	noncoding	Pathogenic
MT	14502	T	C	T14502C	MT-ND6	NC_012920.1(MT-ND6):m.14502T>C	noncoding	Benign
MT	14514	T	C	T14514C	MT-ND6	NC_012920.1:m.14514T>C	noncoding	Benign
MT	14552	A	G	A14552G	MT-ND6	NC_012920.1:m.14552A>G	noncoding	Benign
MT	14553	C	T	C14553T	MT-ND6	NC_012920.1:m.14553C>T	noncoding	Benign
MT	14562	C	T	C14562T	MT-ND6	NC_012920.1:m.14562C>T	noncoding	Benign
MT	14568	C	T	C14568T	MT-ND6	m.14568C>T	noncoding	Pathogenic
MT	14571	T	A	T14571A	MT-ND6	NC_012920.1:m.14571T>A	noncoding	Benign
MT	14574	C	T	C14574T	MT-ND6	NC_012920.1:m.14574C>T	noncoding	Benign
MT	14577	T	C	T14577C	MT-ND6	NC_012920.1:m.14577T>C	noncoding	Benign
MT	14582	A	G	A14582G	MT-ND6	NC_012920.1:m.14582A>G	noncoding	Benign
MT	14596	A	T	A14596T	MT-ND6	m.14596A>T	noncoding	Pathogenic
MT	14634	T	C	T14634C	MT-ND6	NC_012920.1:m.14634T>C	noncoding	Benign
MT	14674	T	C	T14674C	MT-TE	m.14674T>C	noncoding	Pathogenic/Likely_pathogenic
MT	14674	T	G	T14674G	MT-TE	m.14674T>G	noncoding	Pathogenic
MT	14683	A	G	A14683G	MT-TE	NC_012920.1(MT-CYB):m.14683A>G	noncoding	Benign
MT	14684	C	T	C14684T	MT-TE	NC_012920.1(MT-CYB):m.14684C>T	noncoding	Benign
MT	14687	A	G	A14687G	MT-TE	NC_012920.1(MT-CYB):m.14687A>G	noncoding	Benign
MT	14690	A	G	A14690G	MT-TE	NC_012920.1(MT-CYB):m.14690A>G	noncoding	Benign
MT	14692	A	G	A14692G	MT-TE	NC_012920.1:m.14692A>G	noncoding	Pathogenic
MT	14693	A	G	A14693G	MT-TE	NC_012920.1(MT-CYB):m.14693A>G	noncoding	Benign
MT	14696	A	C	A14696C	MT-TE	NC_012920.1(MT-CYB):m.14696A>C	noncoding	Benign
MT	14696	A	G	A14696G	MT-TE	NC_012920.1(MT-CYB):m.14696A>G	noncoding	Benign
MT	14706	A	G	A14706G	MT-TE	NC_012920.1:m.14706A>G	noncoding	Benign
MT	14709	T	C	T14709C	MT-TE	m.14709T>C	noncoding	Pathogenic/Likely_pathogenic
MT	14710	G	A	G14710A	MT-TE	NC_012920.1(MT-CYB):m.14710G>A	noncoding	Pathogenic
MT	14724	G	A	G14724A	MT-TE	NC_012920.1:m.14724G>A	noncoding	Pathogenic
MT	14727	T	C	T14727C	MT-TE	NC_012920.1(MT-CYB):m.14727T>C	noncoding	Benign
MT	14739	G	A	G14739A	MT-TE	NC_012920.1(MT-CYB):m.14739G>A	noncoding	Pathogenic
MT	14750	A	G	A14750G	MT-CYB	NC_012920.1:m.14750A>G	noncoding	Benign
MT	14751	C	T	C14751T	MT-CYB	NC_012920.1:m.14751C>T	noncoding	Benign
MT	14757	T	C	T14757C	MT-CYB	NC_012920.1:m.14757T>C	noncoding	Benign
MT	14766	C	T	C14766T	MT-CYB	m.14766C>T	noncoding	Benign
MT	14769	A	G	A14769G	MT-CYB	NC_012920.1:m.14769A>G	noncoding	Benign
MT	14790	A	G	A14790G	MT-CYB	NC_012920.1:m.14790A>G	noncoding	Benign
MT	14793	A	G	A14793G	MT-CYB	NC_012920.1:m.14793A>G	noncoding	Benign
MT	14798	T	C	T14798C	MT-CYB	NC_012920.1:m.14798T>C	noncoding	Benign
MT	14831	G	A	G14831A	MT-CYB	m.14831G>A	noncoding	Benign
MT	14846	G	A	G14846A	MT-CYB	m.14846G>A	noncoding	Pathogenic
MT	14861	G	A	G14861A	MT-CYB	NC_012920.1:m.14861G>A	noncoding	Benign
MT	14862	C	T	C14862T	MT-CYB	NC_012920.1:m.14862C>T	noncoding	Benign
MT	14870	A	G	A14870G	MT-CYB	NC_012920.1:m.14870A>G	noncoding	Benign
MT	14883	C	T	C14883T	MT-CYB	NC_012920.1:m.14883C>T	noncoding	Benign
MT	14927	A	G	A14927G	MT-CYB	NC_012920.1:m.14927A>G	noncoding	Benign
MT	14970	A	G	A14970G	MT-CYB	NC_012920.1:m.14970A>G	noncoding	Benign
MT	14978	A	G	A14978G	MT-CYB	NC_012920.1:m.14978A>G	noncoding	Benign
MT	14979	T	C	T14979C	MT-CYB	NC_012920.1:m.14979T>C	noncoding	Benign
MT	14990	C	T	C14990T	MT-CYB	NC_012920.1:m.14990C>T	noncoding	Benign
MT	15002	G	A	G15002A	MT-CYB	NC_012920.1:m.15002G>A	noncoding	Benign
MT	15014	T	C	T15014C	MT-CYB	NC_012920.1:m.15014T>C	noncoding	Benign
MT	15047	G	A	G15047A	MT-CYB	NC_012920.1:m.15047G>A	noncoding	Benign
MT	15071	T	C	T15071C	MT-CYB	NC_012920.1(MT-CYB):m.15071T>C	noncoding	Benign/Likely_benign
MT	15074	T	C	T15074C	MT-CYB	NC_012920.1:m.15074T>C	noncoding	Benign
MT	15077	G	A	G15077A	MT-CYB	NC_012920.1:m.15077G>A	noncoding	Benign
MT	15080	A	G	A15080G	MT-CYB	NC_012920.1:m.15080A>G	noncoding	Benign
MT	15110	G	A	G15110A	MT-CYB	NC_012920.1:m.15110G>A	noncoding	Benign
MT	15113	A	G	A15113G	MT-CYB	NC_012920.1:m.15113A>G	noncoding	Benign
MT	15119	G	A	G15119A	MT-CYB	NC_012920.1:m.15119G>A	noncoding	Benign
MT	15150	G	A	G15150A	MT-CYB	m.15150G>A	noncoding	Pathogenic
MT	15164	T	C	T15164C	MT-CYB	NC_012920.1:m.15164T>C	noncoding	Benign
MT	15197	T	C	T15197C	MT-CYB	m.15197T>C	noncoding	Pathogenic
MT	15203	A	G	A15203G	MT-CYB	NC_012920.1:m.15203A>G	noncoding	Benign
MT	15204	T	C	T15204C	MT-CYB	NC_012920.1:m.15204T>C	noncoding	Benign
MT	15218	A	G	A15218G	MT-CYB	NC_012920.1:m.15218A>G	noncoding	Benign
MT	15221	G	A	G15221A	MT-CYB	NC_012920.1:m.15221G>A	noncoding	Benign
MT	15235	A	G	A15235G	MT-CYB	NC_012920.1:m.15235A>G	noncoding	Benign
MT	15236	A	G	A15236G	MT-CYB	NC_012920.1:m.15236A>G	noncoding	Benign
MT	15242	G	A	G15242A	MT-CYB	m.15242G>A	noncoding	Pathogenic
MT	15257	G	A	G15257A	MT-CYB	m.15257G>A	noncoding	Benign
MT	15261	G	A	G15261A	MT-CYB	NC_012920.1:m.15261G>A	noncoding	Benign
MT	15263	C	T	C15263T	MT-CYB	NC_012920.1:m.15263C>T	noncoding	Benign
MT	15272	A	G	A15272G	MT-CYB	NC_012920.1:m.15272A>G	noncoding	Benign
MT	15287	T	C	T15287C	MT-CYB	m.15287T>C	noncoding	Benign
MT	15300	T	C	T15300C	MT-CYB	NC_012920.1:m.15300T>C	noncoding	Benign
MT	15311	A	G	A15311G	MT-CYB	NC_012920.1:m.15311A>G	noncoding	Benign
MT	15314	G	A	G15314A	MT-CYB	NC_012920.1:m.15314G>A	noncoding	Benign
MT	15315	C	T	C15315T	MT-CYB	NC_012920.1:m.15315C>T	noncoding	Benign
MT	15317	G	A	G15317A	MT-CYB	NC_012920.1:m.15317G>A	noncoding	Benign
MT	15323	G	A	G15323A	MT-CYB	NC_012920.1:m.15323G>A	noncoding	Benign
MT	15326	A	G	A15326G	MT-CYB	m.15326A>G	noncoding	Benign
MT	15341	T	C	T15341C	MT-CYB	NC_012920.1:m.15341T>C	noncoding	Benign
MT	15383	T	C	T15383C	MT-CYB	NC_012920.1:m.15383T>C	noncoding	Benign
MT	15386	C	T	C15386T	MT-CYB	NC_012920.1:m.15386C>T	noncoding	Benign
MT	15401	A	G	A15401G	MT-CYB	NC_012920.1:m.15401A>G	noncoding	Benign
MT	15402	C	T	C15402T	MT-CYB	NC_012920.1:m.15402C>T	noncoding	Benign
MT	15431	G	A	G15431A	MT-CYB	NC_012920.1:m.15431G>A	noncoding	Benign
MT	15449	T	C	T15449C	MT-CYB	NC_012920.1:m.15449T>C	noncoding	Benign
MT	15452	C	A	C15452A	MT-CYB	NC_012920.1:m.15452C>A	noncoding	Benign
MT	15458	T	C	T15458C	MT-CYB	NC_012920.1:m.15458T>C	noncoding	Benign
MT	15470	T	C	T15470C	MT-CYB	NC_012920.1:m.15470T>C	noncoding	Benign
MT	15479	T	C	T15479C	MT-CYB	NC_012920.1:m.15479T>C	noncoding	Benign
MT	15497	G	A	G15497A	MT-CYB	m.15497G>A	noncoding	Benign/Likely_benign
MT	15512	T	C	T15512C	MT-CYB	NC_012920.1:m.15512T>C	noncoding	Benign
MT	15519	T	C	T15519C	MT-CYB	NC_012920.1:m.15519T>C	noncoding	Benign
MT	15524	A	G	A15524G	MT-CYB	NC_012920.1:m.15524A>G	noncoding	Benign
MT	15596	G	A	G15596A	MT-CYB	NC_012920.1:m.15596G>A	noncoding	Benign
MT	15617	G	A	G15617A	MT-CYB	NC_012920.1:m.15617G>A	noncoding	Benign
MT	15644	A	G	A15644G	MT-CYB	NC_012920.1:m.15644A>G	noncoding	Benign
MT	15651	C	T	C15651T	MT-CYB	NC_012920.1:m.15651C>T	noncoding	Benign
MT	15662	A	G	A15662G	MT-CYB	NC_012920.1:m.15662A>G	noncoding	Benign
MT	15663	T	C	T15663C	MT-CYB	NC_012920.1:m.15663T>C	noncoding	Benign
MT	15672	T	C	T15672C	MT-CYB	NC_012920.1:m.15672T>C	noncoding	Benign
MT	15674	T	C	T15674C	MT-CYB	NC_012920.1:m.15674T>C	noncoding	Benign
MT	15692	A	G	A15692G	MT-CYB	NC_012920.1:m.15692A>G	noncoding	Benign
MT	15693	T	C	T15693C	MT-CYB	NC_012920.1:m.15693T>C	noncoding	Benign
MT	15725	C	T	C15725T	MT-CYB	NC_012920.1:m.15725C>T	noncoding	Benign
MT	15731	G	A	G15731A	MT-CYB	NC_012920.1:m.15731G>A	noncoding	Benign
MT	15734	G	A	G15734A	MT-CYB	NC_012920.1:m.15734G>A	noncoding	Benign
MT	15735	C	T	C15735T	MT-CYB	NC_012920.1:m.15735C>T	noncoding	Benign
MT	15746	A	G	A15746G	MT-CYB	NC_012920.1(MT-CYB):m.15746A>G	noncoding	Benign
MT	15747	T	C	T15747C	MT-CYB	NC_012920.1:m.15747T>C	noncoding	Benign
MT	15758	A	G	A15758G	MT-CYB	NC_012920.1:m.15758A>G	noncoding	Benign
MT	15773	G	A	G15773A	MT-CYB	NC_012920.1:m.15773G>A	noncoding	Benign
MT	15777	G	A	G15777A	MT-CYB	NC_012920.1(MT-CYB):m.15777G>A	noncoding	Benign/Likely_benign
MT	15777	G	C	G15777C	MT-CYB	NC_012920.1:m.15777G>C	noncoding	Benign
MT	15789	C	T	C15789T	MT-CYB	NC_012920.1:m.15789C>T	noncoding	Benign
MT	15803	G	A	G15803A	MT-CYB	NC_012920.1:m.15803G>A	noncoding	Benign
MT	15804	T	C	T15804C	MT-CYB	NC_012920.1:m.15804T>C	noncoding	Benign
MT	15812	G	A	G15812A	MT-CYB	m.15812G>A	noncoding	Benign
MT	15813	T	C	T15813C	MT-CYB	NC_012920.1:m.15813T>C	noncoding	Benign
MT	15824	A	G	A15824G	MT-CYB	NC_012920.1:m.15824A>G	noncoding	Benign
MT	15849	C	T	C15849T	MT-CYB	NC_012920.1:m.15849C>T	noncoding	Benign
MT	15851	A	G	A15851G	MT-CYB	NC_012920.1:m.15851A>G	noncoding	Benign
MT	15852	T	C	T15852C	MT-CYB	NC_012920.1:m.15852T>C	noncoding	Benign
MT	15860	A	G	A15860G	MT-CYB	NC_012920.1:m.15860A>G	noncoding	Benign
MT	15884	G	A	G15884A	MT-CYB	NC_012920.1:m.15884G>A	noncoding	Benign
MT	15884	G	C	G15884C	MT-CYB	NC_012920.1:m.15884G>C	noncoding	Benign
MT	15885	C	T	C15885T	MT-CYB	NC_012920.1:m.15885C>T	noncoding	Benign
MT	15889	T	C	T15889C	MT-TT	NC_012920.1(MT-CYB):m.15889T>C	noncoding	Benign
MT	15891	C	T	C15891T	MT-TT	NC_012920.1(MT-CYB):m.15891C>T	noncoding	Benign
MT	15892	T	C	T15892C	MT-TT	NC_012920.1(MT-CYB):m.15892T>C	noncoding	Benign
MT	15894	G	A	G15894A	MT-TT	NC_012920.1(MT-CYB):m.15894G>A	noncoding	Benign
MT	15900	T	C	T15900C	MT-TT	NC_012920.1(MT-CYB):m.15900T>C	noncoding	Benign
MT	15902	A	G	A15902G	MT-TT	NC_012920.1(MT-CYB):m.15902A>G	noncoding	Benign
MT	15903	A	G	A15903G	MT-TT	NC_012920.1(MT-CYB):m.15903A>G	noncoding	Benign
MT	15904	C	T	C15904T	MT-TT	NC_012920.1(MT-CYB):m.15904C>T	noncoding	Benign
MT	15905	T	C	T15905C	MT-TT	NC_012920.1(MT-CYB):m.15905T>C	noncoding	Benign
MT	15907	A	G	A15907G	MT-TT	NC_012920.1(MT-CYB):m.15907A>G	noncoding	Benign
MT	15908	T	C	T15908C	MT-TT	NC_012920.1(MT-CYB):m.15908T>C	noncoding	Benign
MT	15913	C	T	C15913T	MT-TT	NC_012920.1(MT-CYB):m.15913C>T	noncoding	Benign
MT	15914	A	G	A15914G	MT-TT	NC_012920.1(MT-CYB):m.15914A>G	noncoding	Benign
MT	15915	G	A	G15915A	MT-TT	NC_012920.1(MT-CYB):m.15915G>A	noncoding	Pathogenic
MT	15916	T	C	T15916C	MT-TT	NC_012920.1(MT-CYB):m.15916T>C	noncoding	Benign
MT	15924	A	G	A15924G	MT-TT	NC_012920.1(MT-CYB):m.15924A>G	noncoding	Benign
MT	15926	C	T	C15926T	MT-TT	NC_012920.1(MT-CYB):m.15926C>T	noncoding	Benign
MT	15927	G	A	G15927A	MT-TT	NC_012920.1:m.15927G>A	noncoding	Benign
MT	15928	G	A	G15928A	MT-TT	NC_012920.1:m.15928G>A	noncoding	Benign
MT	15929	A	G	A15929G	MT-TT	NC_012920.1(MT-CYB):m.15929A>G	noncoding	Benign
MT	15930	G	A	G15930A	MT-TT	NC_012920.1(MT-CYB):m.15930G>A	noncoding	Benign
MT	15932	T	C	T15932C	MT-TT	NC_012920.1(MT-CYB):m.15932T>C	noncoding	Benign
MT	15935	A	G	A15935G	MT-TT	NC_012920.1(MT-CYB):m.15935A>G	noncoding	Benign
MT	15936	A	T	A15936T	MT-TT	NC_012920.1(MT-CYB):m.15936A>T	noncoding	Benign
MT	15937	A	G	A15937G	MT-TT	NC_012920.1(MT-CYB):m.15937A>G	noncoding	Benign
MT	15938	C	T	C15938T	MT-TT	NC_012920.1(MT-CYB):m.15938C>T	noncoding	Benign
MT	15939	C	T	C15939T	MT-TT	NC_012920.1(MT-CYB):m.15939C>T	noncoding	Benign
MT	15940	T	C	T15940C	MT-TT	NC_012920.1(MT-CYB):m.15940T>C	noncoding	Benign
MT	15941	T	C	T15941C	MT-TT	NC_012920.1(MT-CYB):m.15941T>C	noncoding	Benign
MT	15942	T	C	T15942C	MT-TT	NC_012920.1(MT-CYB):m.15942T>C	noncoding	Benign
MT	15943	T	C	T15943C	MT-TT	NC_012920.1:m.15943T>C	noncoding	Benign
MT	15946	C	T	C15946T	MT-TT	NC_012920.1(MT-CYB):m.15946C>T	noncoding	Benign
MT	15947	A	G	A15947G	MT-TT	NC_012920.1(MT-CYB):m.15947A>G	noncoding	Benign
MT	15949	G	A	G15949A	MT-TT	NC_012920.1(MT-CYB):m.15949G>A	noncoding	Benign
MT	15951	A	G	A15951G	MT-TT	NC_012920.1(MT-CYB):m.15951A>G	noncoding	Benign
MT	15958	A	T	A15958T	MT-TP	NC_012920.1:m.15958A>T	noncoding	Pathogenic
MT	15965	A	G	A15965G	MT-TP	m.15965A>G	noncoding	Benign
MT	15967	G	A	G15967A	MT-TP	m.15967G>A	noncoding	Pathogenic
MT	15968	T	C	T15968C	MT-TP	NC_012920.1(MT-CYB):m.15968T>C	noncoding	Benign
MT	15970	T	C	T15970C	MT-TP	NC_012920.1(MT-CYB):m.15970T>C	noncoding	Benign
MT	15977	C	T	C15977T	MT-TP	NC_012920.1(MT-CYB):m.15977C>T	noncoding	Benign
MT	15978	C	T	C15978T	MT-TP	NC_012920.1(MT-CYB):m.15978C>T	noncoding	Benign
X	630370	G	A	G630370A	SHOX	NM_000451.3(SHOX):c.-432-96G>A	noncoding	Benign
X	630879	G	C	G630879C	SHOX	NM_000451.3(SHOX):c.-19G>C	noncoding	Benign
X	630960	C	T	C630960T	SHOX	NM_000451.3(SHOX):c.63C>T:p.Gly21=	coding	Benign/Likely_benign
X	631191	T	G	T631191G	SHOX	NM_000451.3(SHOX):c.277+17T>G	noncoding	Benign
X	634603	C	A	C634603A	SHOX	NM_000451.3(SHOX):c.278-15C>A	noncoding	Benign
X	634644	G	T	G634644T	SHOX	NM_000451.3(SHOX):c.304G>T:p.Glu102Ter	coding	Pathogenic
X	634689	C	T	C634689T	SHOX	NM_000451.3(SHOX):c.349C>T:p.Gln117Ter	coding	Pathogenic/Likely_pathogenic
X	634734	C	G	C634734G	SHOX	NM_000451.3(SHOX):c.394C>G:p.Leu132Val	coding	Pathogenic
X	634740	C	A	C634740A	SHOX	NM_000451.3(SHOX):c.400C>A:p.Arg134=	coding	Benign/Likely_benign
X	634780	G	A	G634780A	SHOX	NM_000451.3(SHOX):c.440G>A:p.Arg147His	coding	Pathogenic
X	634798	G	T	G634798T	SHOX	NM_000451.3(SHOX):c.458G>T:p.Arg153Leu	coding	Pathogenic
X	640836	C	T	C640836T	SHOX	NM_000451.3(SHOX):c.502C>T:p.Arg168Trp	coding	Pathogenic
X	640842	G	C	G640842C	SHOX	NM_000451.3(SHOX):c.508G>C:p.Ala170Pro	coding	Pathogenic
X	640843	C	A	C640843A	SHOX	NM_000451.3(SHOX):c.509C>A:p.Ala170Asp	coding	Pathogenic
X	640851	C	T	C640851T	SHOX	NM_000451.3(SHOX):c.517C>T:p.Arg173Cys	coding	Pathogenic
X	640862	G	C	G640862C	SHOX	NM_000451.3(SHOX):c.528G>C:p.Glu176Asp	coding	Pathogenic
X	640879	G	A	G640879A	SHOX	NM_000451.3(SHOX):c.544+1G>A	coding	Pathogenic
X	641037	C	T	C641037T	SHOX	NM_000451.3(SHOX):c.583C>T:p.Arg195Ter	coding	Pathogenic
X	641051	C	G	C641051G	SHOX	NM_000451.3(SHOX):c.597C>G:p.Tyr199Ter	coding	Pathogenic
X	644377	G	T	G644377T	SHOX	NM_000451.3(SHOX):c.634-14G>T	noncoding	Benign
X	644621	G	A	G644621A	SHOX	NM_000451.3(SHOX):c.864G>A:p.Glu288=	coding	Benign/Likely_benign
X	644627	G	A	G644627A	SHOX	NM_000451.3(SHOX):c.870G>A:p.Leu290=	coding	Benign/Likely_benign
X	644634	T	C	T644634C	SHOX	NM_000451.3(SHOX):c.877T>C:p.Ter293Arg	coding	Pathogenic
X	1196852	A	C	A1196852C	CRLF2	NM_022148.4(CRLF2):c.695T>G:p.Phe232Cys	coding	Pathogenic
X	1282753	C	G	C1282753G	CSF2RA	NM_172245.4(CSF2RA):c.50C>G:p.Ala17Gly	coding	Benign
X	1288522	A	G	A1288522G	CSF2RA	NM_172245.4(CSF2RA):c.223A>G:p.Ser75Gly	coding	Benign
X	1288578	A	G	A1288578G	CSF2RA	NM_172245.4(CSF2RA):c.279A>G:p.Thr93=	coding	Benign/Likely_benign
X	1288599	T	C	T1288599C	CSF2RA	NM_172245.4(CSF2RA):c.300T>C:p.Thr100=	coding	Benign
X	1288840	C	T	C1288840T	CSF2RA	NM_172245.4(CSF2RA):c.425C>T:p.Pro142Leu	coding	Benign
X	1290354	G	A	G1290354A	CSF2RA	NM_001161529.1(CSF2RA):c.491G>A:p.Arg164Gln	coding	Benign/Likely_benign
X	1290403	G	A	G1290403A	CSF2RA	NM_001161529.2(CSF2RA):c.540G>A:p.Leu180=	coding	Benign
X	1290412	G	C	G1290412C	CSF2RA	NM_172245.4(CSF2RA):c.549G>C:p.Leu183=	coding	Benign
X	1290424	G	A	G1290424A	CSF2RA	NM_172245.4(CSF2RA):c.561G>A:p.Thr187=	coding	Benign
X	1290449	G	A	G1290449A	CSF2RA	NM_172245.4(CSF2RA):c.586G>A:p.Gly196Arg	coding	Pathogenic
X	1290458	C	T	C1290458T	CSF2RA	NM_001161529.2(CSF2RA):c.595C>T:p.Arg199Ter	coding	Pathogenic
X	1290473	C	T	C1290473T	CSF2RA	NM_001161529.2(CSF2RA):c.610C>T:p.Gln204Ter	coding	Pathogenic
X	1294321	G	A	G1294321A	CSF2RA	NM_172245.4(CSF2RA):c.647-7G>A	noncoding	Benign/Likely_benign
X	1294362	T	C	T1294362C	CSF2RA	NM_006140.5(CSF2RA):c.681T>C:p.Arg227=	coding	Benign
X	1303943	G	A	G1303943A	CSF2RA	NM_006140.5(CSF2RA):c.967G>A:p.Gly323Ser	coding	Benign
X	1303975	G	A	G1303975A	CSF2RA	NM_172245.4(CSF2RA):c.999G>A:p.Val333=	coding	Benign
X	1305473	G	A	G1305473A	CSF2RA	NM_001161529.2(CSF2RA):c.1071G>A:p.Pro357=	coding	Benign
X	1305655	G	A	G1305655A	CSF2RA	NM_172245.4(CSF2RA):c.1125+128G>A	coding	Benign
X	1309488	G	A	G1309488A	CSF2RA	NM_172245.4(CSF2RA):c.*9G>A	coding	Benign
X	1309528	G	T	G1309528T	CSF2RA	NM_172245.4(CSF2RA):c.*49G>T	coding	Benign
X	1352209	C	T	C1352209T	IL3RA	NM_002183.4(IL3RA):c.408C>T:p.Tyr136=	coding	Benign
X	1382426	G	A	G1382426A	IL3RA	NM_002183.4(IL3RA):c.1098G>A:p.Glu366=	coding	Benign
X	1386740	G	A	G1386740A	SLC25A6	NM_001636.4(SLC25A6):c.759C>T:p.Gly253=	coding	Benign
X	1389533	G	A	G1389533A	SLC25A6	NM_001636.4(SLC25A6):c.306C>T:p.Gly102=	coding	Benign
X	1389572	G	A	G1389572A	SLC25A6	NM_001636.4(SLC25A6):c.267C>T:p.Phe89=	coding	Benign
X	2488738	T	G	T2488738G	ZBED1	NM_001171136.2(ZBED1):c.1982A>C:p.Asp661Ala	coding	Benign
X	2488954	T	C	T2488954C	ZBED1	NM_001171136.2(ZBED1):c.1766A>G:p.Lys589Arg	coding	Benign
X	2489148	G	A	G2489148A	ZBED1	NM_001171136.2(ZBED1):c.1572C>T:p.Pro524=	coding	Benign
X	2489805	G	T	G2489805T	ZBED1	NM_001171136.2(ZBED1):c.915C>A:p.Leu305=	coding	Benign
X	2489886	C	T	C2489886T	ZBED1	NM_001171136.2(ZBED1):c.834G>A:p.Ala278=	coding	Benign
X	2490504	G	A	G2490504A	ZBED1	NM_001171136.2(ZBED1):c.216C>T:p.Pro72=	coding	Benign
X	2490552	G	A	G2490552A	ZBED1	NM_001171136.2(ZBED1):c.168C>T:p.Tyr56=	coding	Benign
X	2490618	G	A	G2490618A	ZBED1	NM_001171136.2(ZBED1):c.102C>T:p.Asn34=	coding	Benign
X	2808207	T	C	T2808207C	XG	NM_175569.2(XG):c.396T>C:p.Tyr132=	coding	Benign
X	2811333	C	T	C2811333T	XG	NM_175569.2(XG):c.410-3C>T	noncoding	Benign
X	2830212	G	C	G2830212C	GYG2	NM_001079855.2(GYG2):c.7+17G>C	noncoding	Benign
X	2830380	G	A	G2830380A	GYG2	NM_001079855.2(GYG2):c.7+185G>A	noncoding	Benign
X	2843371	C	T	C2843371T	GYG2	NM_001079855.2(GYG2):c.149+17C>T	noncoding	Benign
X	2855013	G	A	G2855013A	GYG2	NM_001079855.2(GYG2):c.345G>A:p.Glu115=	coding	Benign
X	2856568	G	A	G2856568A	GYG2	NM_001079855.2(GYG2):c.558G>A:p.Pro186=	coding	Benign
X	2859944	C	T	C2859944T	GYG2	NM_001079855.2(GYG2):c.716C>T:p.Ala239Val	coding	Benign
X	2860281	G	A	G2860281A	GYG2	NM_001079855.2(GYG2):c.837+216G>A	noncoding	Benign
X	2860392	C	G	C2860392G	GYG2	NM_001079855.2(GYG2):c.837+327C>G	noncoding	Benign
X	2861289	T	C	T2861289C	GYG2	NM_001079855.2(GYG2):c.838-233T>C	noncoding	Benign
X	2861529	A	G	A2861529G	GYG2	NM_001079855.2(GYG2):c.845A>G:p.His282Arg	coding	Benign
X	2861554	G	A	G2861554A	GYG2	NM_001079855.2(GYG2):c.870G>A:p.Ala290=	coding	Benign
X	2861708	C	T	C2861708T	GYG2	NM_001079855.2(GYG2):c.1024C>T:p.Arg342Cys	coding	Benign
X	2875870	C	A	C2875870A	GYG2	NM_001079855.2(GYG2):c.1099C>A:p.Pro367Thr	coding	Benign
X	2875910	T	C	T2875910C	GYG2	NM_001079855.2(GYG2):c.1139T>C:p.Ile380Thr	coding	Benign
X	2876176	G	C	G2876176C	GYG2	NM_001079855.2(GYG2):c.1143+262G>C	noncoding	Benign
X	2907322	G	A	G2907322A	ARSD	NM_001669.4(ARSD):c.1731C>T:p.Cys577=	coding	Benign
X	2907555	C	T	C2907555T	ARSD	NM_001669.4(ARSD):c.1498G>A:p.Val500Ile	coding	Benign
X	2909889	C	T	C2909889T	ARSD	NM_001669.4(ARSD):c.1226G>A:p.Gly409Glu	coding	Benign
X	2934859	C	T	C2934859T	ARSL	NM_000047.2(ARSL):c.1743G>A:p.Trp581Ter	coding	Pathogenic/Likely_pathogenic
X	2934870	G	A	G2934870A	ARSL	NM_000047.2(ARSL):c.1732C>T:p.Pro578Ser	coding	Pathogenic
X	2934874	C	T	C2934874T	ARSL	NM_000047.2(ARSL):c.1728G>A:p.Pro576=	coding	Benign
X	2934891	G	A	G2934891A	ARSL	NM_000047.2(ARSL):c.1711C>T:p.Gln571Ter	coding	Pathogenic
X	2934898	C	T	C2934898T	ARSL	NM_000047.3(ARSL):c.1704G>A:p.Pro568=	coding	Benign
X	2934910	G	A	G2934910A	ARSL	NM_000047.2(ARSL):c.1692C>T:p.Asn564=	coding	Benign
X	2935127	C	T	C2935127T	ARSL	NM_000047.2(ARSL):c.1475G>A:p.Cys492Tyr	coding	Pathogenic
X	2935160	G	A	G2935160A	ARSL	NM_000047.2(ARSL):c.1442C>T:p.Thr481Met	coding	Pathogenic
X	2936745	C	G	C2936745G	ARSL	NM_000047.3(ARSL):c.1408G>C:p.Asp470His	coding	Benign
X	2936767	G	A	G2936767A	ARSL	NM_000047.3(ARSL):c.1386C>T:p.His462=	coding	Benign
X	2936853	C	T	C2936853T	ARSL	NM_000047.2(ARSL):c.1300G>A:p.Gly434Ser	coding	Pathogenic
X	2938086	G	A	G2938086A	ARSL	NM_000047.3(ARSL):c.1289+9C>T	noncoding	Benign
X	2938114	C	T	C2938114T	ARSL	NM_000047.2(ARSL):c.1270G>A:p.Gly424Ser	coding	Benign
X	2938203	C	T	C2938203T	ARSL	NM_000047.3(ARSL):c.1181G>A:p.Arg394His	coding	Benign
X	2943152	G	A	G2943152A	ARSL	NM_000047.3(ARSL):c.1039C>T:p.Leu347Phe	coding	Benign
X	2943418	G	C	G2943418C	ARSL	NM_000047.2(ARSL):c.992-219C>G	noncoding	Benign
X	2946092	G	A	G2946092A	ARSL	NM_000047.3(ARSL):c.897C>T:p.His299=	coding	Benign
X	2946122	C	T	C2946122T	ARSL	NM_000047.2(ARSL):c.867G>A:p.Gly289=	coding	Benign
X	2949318	C	T	C2949318T	ARSL	NM_000047.3(ARSL):c.840G>A:p.Ala280=	coding	Benign
X	2949372	C	T	C2949372T	ARSL	NM_000047.2(ARSL):c.786G>A:p.Thr262=	coding	Benign
X	2949383	G	C	G2949383C	ARSL	NM_000047.2(ARSL):c.775C>G:p.His259Asp	coding	Benign/Likely_benign
X	2949425	C	G	C2949425G	ARSL	NM_000047.2(ARSL):c.733G>C:p.Gly245Arg	coding	Pathogenic
X	2949444	G	A	G2949444A	ARSL	NM_000047.3(ARSL):c.714C>T:p.Leu238=	coding	Benign
X	2949455	C	T	C2949455T	ARSL	NM_000047.3(ARSL):c.703G>A:p.Val235Ile	coding	Benign
X	2949494	C	T	C2949494T	ARSL	NM_000047.3(ARSL):c.664G>A:p.Val222Ile	coding	Benign
X	2949609	G	A	G2949609A	ARSL	NM_000047.2(ARSL):c.549C>T:p.Arg183=	coding	Benign
X	2949610	C	T	C2949610T	ARSL	NM_000047.2(ARSL):c.548G>A:p.Arg183His	coding	Benign
X	2949663	A	C	A2949663C	ARSL	NM_000047.2(ARSL):c.495T>G:p.His165Gln	coding	Benign
X	2949663	A	G	A2949663G	ARSL	NM_000047.2(ARSL):c.495T>C:p.His165=	coding	Benign
X	2949691	C	T	C2949691T	ARSL	NM_000047.2(ARSL):c.467G>A:p.Ser156Asn	coding	Benign
X	2953135	G	A	G2953135A	ARSL	NM_000047.2(ARSL):c.430+8C>T	noncoding	Benign
X	2953163	C	A	C2953163A	ARSL	NM_000047.2(ARSL):c.410G>T:p.Gly137Val	coding	Pathogenic
X	2953224	C	T	C2953224T	ARSL	NM_000047.2(ARSL):c.349G>A:p.Gly117Arg	coding	Pathogenic
X	2953241	C	G	C2953241G	ARSL	NM_000047.2(ARSL):c.332G>C:p.Arg111Pro	coding	Pathogenic
X	2955503	C	T	C2955503T	ARSL	NM_000047.3(ARSL):c.220G>A:p.Val74Met	coding	Benign
X	2958302	T	C	T2958302C	ARSL	NM_000047.2(ARSL):c.157A>G:p.Ile53Val	coding	Benign
X	2958340	A	C	A2958340C	ARSL	NM_000047.2(ARSL):c.119T>G:p.Ile40Ser	coding	Pathogenic
X	2958345	C	T	C2958345T	ARSL	NM_000047.3(ARSL):c.114G>A:p.Pro38=	coding	Benign
X	2958356	C	T	C2958356T	ARSL	NM_000047.3(ARSL):c.103G>A:p.Ala35Thr	coding	Benign
X	2958357	G	A	G2958357A	ARSL	NM_000047.2(ARSL):c.102C>T:p.Ser34=	coding	Benign
X	2958381	T	C	T2958381C	ARSL	NM_000047.2(ARSL):c.78A>G:p.Ala26=	coding	Benign
X	2960373	C	G	C2960373G	ARSL	NM_000047.3(ARSL):c.23+5G>C	noncoding	Benign
X	3010047	G	A	G3010047A	ARSH	NM_001011719.2(ARSH):c.110G>A:p.Arg37His	coding	Benign
X	3010084	C	T	C3010084T	ARSH	NM_001011719.1(ARSH):c.147C>T:p.Leu49=	coding	Benign
X	3010129	C	T	C3010129T	ARSH	NM_001011719.1(ARSH):c.192C>T:p.Thr64=	coding	Benign
X	3015016	T	C	T3015016C	ARSH	NM_001011719.1(ARSH):c.387T>C:p.Cys129=	coding	Benign
X	3015059	C	A	C3015059A	ARSH	NM_001011719.2(ARSH):c.430C>A:p.Pro144Thr	coding	Benign
X	3015270	G	A	G3015270A	ARSH	NM_001011719.1(ARSH):c.641G>A:p.Ser214Asn	coding	Benign
X	3015282	C	T	C3015282T	ARSH	NM_001011719.1(ARSH):c.653C>T:p.Thr218Ile	coding	Benign
X	3024068	T	C	T3024068C	ARSH	NM_001011719.1(ARSH):c.949T>C:p.Leu317=	coding	Benign
X	3027348	C	T	C3027348T	ARSH	NM_001011719.1(ARSH):c.1072C>T:p.Arg358Cys	coding	Benign
X	3027436	C	T	C3027436T	ARSH	NM_001011719.1(ARSH):c.1160C>T:p.Thr387Met	coding	Benign
X	3029271	G	A	G3029271A	ARSH	NM_001011719.2(ARSH):c.1224G>A:p.Met408Ile	coding	Benign
X	3033393	C	G	C3033393G	ARSH	NM_001011719.1(ARSH):c.*8C>G	noncoding	Benign
X	3072032	C	G	C3072032G	ARSF	NM_001201539.2(ARSF):c.18C>G:p.Pro6=	coding	Benign
X	3310337	A	T	A3310337T	MXRA5	NM_015419.4(MXRA5):c.7866T>A:p.Ala2622=	coding	Benign
X	3310390	C	T	C3310390T	MXRA5	NM_015419.4(MXRA5):c.7813G>A:p.Gly2605Ser	coding	Benign
X	3310612	G	C	G3310612C	MXRA5	NM_015419.4(MXRA5):c.7591C>G:p.Leu2531Val	coding	Benign
X	3310925	C	G	C3310925G	MXRA5	NM_015419.4(MXRA5):c.7278G>C:p.Glu2426Asp	coding	Benign
X	3311138	C	T	C3311138T	MXRA5	NM_015419.4(MXRA5):c.7065G>A:p.Ala2355=	coding	Benign
X	3317213	C	G	C3317213G	MXRA5	NM_015419.4(MXRA5):c.6468G>C:p.Thr2156=	coding	Benign
X	3317430	C	G	C3317430G	MXRA5	NM_015419.4(MXRA5):c.6251G>C:p.Gly2084Ala	coding	Benign
X	3317531	G	T	G3317531T	MXRA5	NM_015419.4(MXRA5):c.6150C>A:p.His2050Gln	coding	Benign
X	3317540	G	A	G3317540A	MXRA5	NM_015419.4(MXRA5):c.6141C>T:p.Pro2047=	coding	Benign
X	3317582	C	T	C3317582T	MXRA5	NM_015419.4(MXRA5):c.6099G>A:p.Ala2033=	coding	Benign
X	3320093	G	A	G3320093A	MXRA5	NM_015419.4(MXRA5):c.5592C>T:p.Ser1864=	coding	Benign
X	3321295	G	A	G3321295A	MXRA5	NM_015419.4(MXRA5):c.4390C>T:p.His1464Tyr	coding	Benign
X	3321787	T	C	T3321787C	MXRA5	NM_015419.4(MXRA5):c.3898A>G:p.Arg1300Gly	coding	Benign
X	3322197	C	T	C3322197T	MXRA5	NM_015419.4(MXRA5):c.3488G>A:p.Arg1163His	coding	Benign
X	3323205	G	C	G3323205C	MXRA5	NM_015419.4(MXRA5):c.2480C>G:p.Pro827Arg	coding	Benign
X	3324047	C	T	C3324047T	MXRA5	NM_015419.4(MXRA5):c.1638G>A:p.Glu546=	coding	Benign
X	3324298	T	C	T3324298C	MXRA5	NM_015419.4(MXRA5):c.1387A>G:p.Ile463Val	coding	Benign
X	3324744	G	T	G3324744T	MXRA5	NM_015419.4(MXRA5):c.941C>A:p.Pro314His	coding	Benign
X	3324767	G	A	G3324767A	MXRA5	NM_015419.4(MXRA5):c.918C>T:p.Leu306=	coding	Benign
X	3612296	G	A	G3612296A	PRKX	NM_005044.5(PRKX):c.981C>T:p.Asp327=	coding	Benign
X	3612334	C	T	C3612334T	PRKX	NM_005044.5(PRKX):c.952-9G>A	noncoding	Benign
X	3615805	T	A	T3615805A	PRKX	NM_005044.5(PRKX):c.951+10A>T	noncoding	Benign
X	5892988	G	A	G5892988A	NLGN4X	NM_181332.3(NLGN4X):c.2280C>T:p.Tyr760=	coding	Benign/Likely_benign
X	5892997	C	T	C5892997T	NLGN4X	NM_181332.3(NLGN4X):c.2271G>A:p.Pro757=	coding	Benign
X	5893045	G	A	G5893045A	NLGN4X	NM_181332.3(NLGN4X):c.2223C>T:p.His741=	coding	Benign/Likely_benign
X	5893090	G	A	G5893090A	NLGN4X	NM_181332.3(NLGN4X):c.2178C>T:p.Asn726=	coding	Benign
X	5893219	C	T	C5893219T	NLGN4X	NM_181332.3(NLGN4X):c.2049G>A:p.Ala683=	coding	Benign
X	5893291	C	G	C5893291G	NLGN4X	NM_181332.3(NLGN4X):c.1977G>C:p.Glu659Asp	coding	Benign
X	5893489	G	C	G5893489C	NLGN4X	NM_181332.3(NLGN4X):c.1779C>G:p.Leu593=	coding	Benign
X	5893491	G	A	G5893491A	NLGN4X	NM_181332.3(NLGN4X):c.1777C>T:p.Leu593Phe	coding	Benign/Likely_benign
X	5893521	G	A	G5893521A	NLGN4X	NM_181332.3(NLGN4X):c.1747C>T:p.Arg583Trp	coding	Pathogenic
X	5903322	G	A	G5903322A	NLGN4X	NM_181332.3(NLGN4X):c.1356C>T:p.Pro452=	coding	Benign
X	5903427	C	G	C5903427G	NLGN4X	NM_181332.3(NLGN4X):c.1251G>C:p.Arg417=	coding	Benign
X	5903545	T	C	T5903545C	NLGN4X	NM_181332.3(NLGN4X):c.1133A>G:p.Lys378Arg	coding	Benign/Likely_benign
X	5903658	G	A	G5903658A	NLGN4X	NM_181332.3(NLGN4X):c.1020C>T:p.Phe340=	coding	Benign
X	5903723	G	T	G5903723T	NLGN4X	NM_181332.3(NLGN4X):c.955C>A:p.Arg319=	coding	Benign/Likely_benign
X	5903745	G	A	G5903745A	NLGN4X	NM_181332.3(NLGN4X):c.933C>T:p.Thr311=	coding	Benign
X	5903781	T	C	T5903781C	NLGN4X	NM_181332.3(NLGN4X):c.897A>G:p.Ile299Met	coding	Benign/Likely_benign
X	6029314	G	A	G6029314A	NLGN4X	NM_181332.3(NLGN4X):c.591C>T:p.Ile197=	coding	Benign
X	6029347	G	A	G6029347A	NLGN4X	NM_181332.3(NLGN4X):c.558C>T:p.Asp186=	coding	Benign/Likely_benign
X	6151080	G	A	G6151080A	NLGN4X	NM_181332.3(NLGN4X):c.387C>T:p.Thr129=	coding	Benign
X	6151166	G	A	G6151166A	NLGN4X	NM_181332.3(NLGN4X):c.301C>T:p.Arg101Ter	coding	Pathogenic
X	6151413	G	A	G6151413A	NLGN4X	NM_181332.3(NLGN4X):c.54C>T:p.Cys18=	coding	Benign
X	6228182	C	T	C6228182T	NLGN4X	NM_181332.3(NLGN4X):c.-306+359G>A	noncoding	Benign
X	7253251	G	A	G7253251A	STS	NM_001320752.2(STS):c.52G>A:p.Ala18Thr	coding	Benign
X	7257242	G	A	G7257242A	STS	NM_001320752.2(STS):c.138G>A:p.Arg46=	coding	Benign
X	7257258	C	T	C7257258T	STS	NM_001320752.2(STS):c.154C>T:p.Arg52Trp	coding	Benign
X	7257273	G	T	G7257273T	STS	NM_000351.6(STS):c.184G>T:p.Gly62Ter	coding	Pathogenic
X	7257478	G	A	G7257478A	STS	NM_000351.6(STS):c.287G>A:p.Trp96Ter	coding	Pathogenic
X	7257494	T	C	T7257494C	STS	NM_001320752.2(STS):c.288T>C:p.Val96=	coding	Benign/Likely_benign
X	7259472	A	G	A7259472G	STS	NM_001320752.2(STS):c.506A>G:p.Glu169Gly	coding	Benign
X	7305036	T	C	T7305036C	STS	NM_001320752.2(STS):c.944-10T>C	noncoding	Benign
X	7305066	G	A	G7305066A	STS	NM_001320752.2(STS):c.964G>A:p.Asp322Asn	coding	Benign
X	7305109	C	T	C7305109T	STS	NM_000351.6(STS):c.1022C>T:p.Ser341Leu	coding	Pathogenic
X	7325356	T	A	T7325356A	STS	NM_000351.6(STS):c.1114T>A:p.Trp372Arg	coding	Pathogenic
X	7325357	G	C	G7325357C	STS	NM_000351.6(STS):c.1115G>C:p.Trp372Ser	coding	Pathogenic
X	7325381	G	C	G7325381C	STS	NM_001320752.2(STS):c.1124G>C:p.Gly375Ala	coding	Benign
X	7325495	A	G	A7325495G	STS	NM_001320752.2(STS):c.1238A>G:p.Asp413Gly	coding	Benign
X	7325499	G	T	G7325499T	STS	NM_000351.6(STS):c.1256+1G>T	coding	Pathogenic
X	7334060	A	G	A7334060G	STS	NM_000351.6(STS):c.1331A>G:p.His444Arg	coding	Pathogenic
X	7334066	G	A	G7334066A	STS	NM_000351.6(STS):c.1337G>A:p.Cys446Tyr	coding	Pathogenic
X	7350000	C	T	C7350000T	STS	NM_001320752.2(STS):c.1476C>T:p.His492=	coding	Benign
X	7350073	C	T	C7350073T	STS	NM_001320752.2(STS):c.1549C>T:p.Arg517Trp	coding	Benign
X	7350090	C	T	C7350090T	STS	NM_001320752.2(STS):c.1566C>T:p.Leu522=	coding	Benign
X	7350255	C	G	C7350255G	STS	NM_000351.6(STS):c.1746C>G:p.Ser582Arg	coding	Benign/Likely_benign
X	7350257	G	A	G7350257A	STS	NM_001320752.2(STS):c.1733G>A:p.Arg578His	coding	Benign
X	7902124	G	A	G7902124A	PNPLA4	NM_004650.3(PNPLA4):c.495C>T:p.Gly165=	coding	Benign
X	7921787	C	T	C7921787T	PNPLA4	NM_004650.3(PNPLA4):c.337G>A:p.Val113Ile	coding	Benign
X	8534412	G	A	G8534412A	ANOS1	NM_000216.4(ANOS1):c.1891C>T:p.Arg631Ter	coding	Pathogenic
X	8535600	G	A	G8535600A	ANOS1	NM_000216.4(ANOS1):c.1833C>T:p.Ile611=	coding	Benign
X	8535651	C	T	C8535651T	ANOS1	NM_000216.4(ANOS1):c.1782G>A:p.Thr594=	coding	Benign
X	8535674	C	A	C8535674A	ANOS1	NM_000216.4(ANOS1):c.1759G>T:p.Val587Leu	coding	Benign/Likely_benign
X	8535688	A	G	A8535688G	ANOS1	NM_000216.4(ANOS1):c.1745T>C:p.Met582Thr	coding	Benign
X	8535791	G	A	G8535791A	ANOS1	NM_000216.4(ANOS1):c.1642C>T:p.Leu548=	coding	Benign
X	8535806	C	T	C8535806T	ANOS1	NM_000216.4(ANOS1):c.1627G>A:p.Val543Ile	coding	Benign
X	8536611	T	C	T8536611C	ANOS1	NM_000216.4(ANOS1):c.1621+160A>G	noncoding	Benign
X	8536777	C	A	C8536777A	ANOS1	NM_000216.4(ANOS1):c.1615G>T:p.Glu539Ter	coding	Pathogenic
X	8536792	C	T	C8536792T	ANOS1	NM_000216.4(ANOS1):c.1600G>A:p.Val534Ile	coding	Benign
X	8536852	C	T	C8536852T	ANOS1	NM_000216.4(ANOS1):c.1540G>A:p.Glu514Lys	coding	Pathogenic
X	8536860	G	T	G8536860T	ANOS1	NM_000216.4(ANOS1):c.1532C>A:p.Ser511Tyr	coding	Benign
X	8539694	G	A	G8539694A	ANOS1	NM_000216.4(ANOS1):c.1419C>T:p.Thr473=	coding	Benign
X	8539732	G	A	G8539732A	ANOS1	NM_000216.4(ANOS1):c.1381C>T:p.Arg461Trp	coding	Benign
X	8540021	C	T	C8540021T	ANOS1	NM_000216.4(ANOS1):c.1355-263G>A	noncoding	Benign
X	8554023	G	A	G8554023A	ANOS1	NM_000216.4(ANOS1):c.1283C>T:p.Pro428Leu	coding	Benign/Likely_benign
X	8554036	G	A	G8554036A	ANOS1	NM_000216.4(ANOS1):c.1270C>T:p.Arg424Ter	coding	Pathogenic
X	8554039	G	A	G8554039A	ANOS1	NM_000216.4(ANOS1):c.1267C>T:p.Arg423Ter	coding	Pathogenic
X	8568252	G	A	G8568252A	ANOS1	NM_000216.4(ANOS1):c.1187C>T:p.Ser396Leu	coding	Pathogenic
X	8570498	C	A	C8570498A	ANOS1	NM_000216.4(ANOS1):c.1062+1G>T	noncoding	Pathogenic
X	8570604	C	T	C8570604T	ANOS1	NM_000216.4(ANOS1):c.957G>A:p.Glu319=	coding	Benign
X	8570650	T	C	T8570650C	ANOS1	NM_000216.4(ANOS1):c.911A>G:p.Asn304Ser	coding	Benign
X	8570655	G	A	G8570655A	ANOS1	NM_000216.4(ANOS1):c.906C>T:p.Thr302=	coding	Benign
X	8570671	C	T	C8570671T	ANOS1	NM_000216.4(ANOS1):c.890G>A:p.Arg297Gln	coding	Benign
X	8585339	G	A	G8585339A	ANOS1	NM_000216.4(ANOS1):c.784C>T:p.Arg262Ter	coding	Pathogenic
X	8585349	C	T	C8585349T	ANOS1	NM_000216.4(ANOS1):c.774G>A:p.Trp258Ter	coding	Pathogenic
X	8585350	C	T	C8585350T	ANOS1	NM_000216.4(ANOS1):c.773G>A:p.Trp258Ter	coding	Pathogenic
X	8585354	G	A	G8585354A	ANOS1	NM_000216.4(ANOS1):c.769C>T:p.Arg257Ter	coding	Pathogenic
X	8587809	C	T	C8587809T	ANOS1	NM_000216.4(ANOS1):c.711G>A:p.Trp237Ter	coding	Pathogenic
X	8587902	C	T	C8587902T	ANOS1	NM_000216.4(ANOS1):c.618G>A:p.Ser206=	coding	Benign
X	8587940	C	A	C8587940A	ANOS1	NM_000216.4(ANOS1):c.580G>T:p.Glu194Ter	coding	Pathogenic
X	8587965	C	G	C8587965G	ANOS1	NM_000216.4(ANOS1):c.555G>C:p.Lys185Asn	coding	Benign/Likely_benign
X	8596968	T	A	T8596968A	ANOS1	NM_000216.4(ANOS1):c.541+66A>T	noncoding	Benign
X	8597081	G	T	G8597081T	ANOS1	NM_000216.4(ANOS1):c.494C>A:p.Ser165Ter	coding	Pathogenic
X	8623662	C	T	C8623662T	ANOS1	NM_000216.4(ANOS1):c.264G>A:p.Glu88=	coding	Benign
X	8699694	G	A	G8699694A	ANOS1	NM_000216.4(ANOS1):c.255+4C>T	noncoding	Benign
X	8699739	C	T	C8699739T	ANOS1	NM_000216.4(ANOS1):c.214G>A:p.Gly72Ser	coding	Benign
X	9653599	G	T	G9653599T	TBL1X	NM_005647.4(TBL1X):c.13G>T:p.Ala5Ser	coding	Benign
X	9711629	G	A	G9711629A	TBL1X	NM_005647.4(TBL1X):c.1458G>A:p.Thr486=	coding	Benign
X	9714937	C	T	C9714937T	TBL1X	NM_005647.4(TBL1X):c.1641C>T:p.Gly547=	coding	Benign
X	9714940	C	T	C9714940T	TBL1X	NM_005647.4(TBL1X):c.1644C>T:p.Gly548=	coding	Benign
X	9725828	C	T	C9725828T	GPR143	NM_000273.3(GPR143):c.1133G>A:p.Ser378Asn	coding	Benign
X	9739469	G	A	G9739469A	GPR143	NM_000273.3(GPR143):c.1120+16C>T	noncoding	Benign
X	9739481	T	C	T9739481C	GPR143	NM_000273.3(GPR143):c.1120+4A>G	noncoding	Benign
X	9739526	C	T	C9739526T	GPR143	NM_000273.3(GPR143):c.1079G>A:p.Gly360Asp	coding	Benign
X	9739560	C	T	C9739560T	GPR143	NM_000273.3(GPR143):c.1045G>A:p.Glu349Lys	coding	Benign
X	9739569	T	C	T9739569C	GPR143	NM_000273.3(GPR143):c.1036A>G:p.Met346Val	coding	Benign
X	9741456	C	T	C9741456T	GPR143	NM_000273.3(GPR143):c.768-1G>A	coding	Pathogenic
X	9743555	G	C	G9743555C	GPR143	NM_000273.3(GPR143):c.767+10C>G	noncoding	Benign
X	9743637	G	T	G9743637T	GPR143	NM_000273.3(GPR143):c.695C>A:p.Thr232Lys	coding	Pathogenic
X	9746132	G	A	G9746132A	GPR143	NM_000273.3(GPR143):c.570C>T:p.His190=	coding	Benign/Likely_benign
X	9748572	A	T	A9748572T	GPR143	NM_000273.3(GPR143):c.548+2T>A	noncoding	Pathogenic
X	9748600	G	A	G9748600A	GPR143	NM_000273.3(GPR143):c.522C>T:p.Ala174=	coding	Benign
X	9748675	C	G	C9748675G	GPR143	NM_000273.3(GPR143):c.456-9G>C	noncoding	Benign/Likely_benign
X	9759332	C	T	C9759332T	GPR143	NM_000273.3(GPR143):c.455G>A:p.Ser152Asn	coding	Pathogenic
X	9759390	A	G	A9759390G	GPR143	NM_000273.3(GPR143):c.397T>C:p.Trp133Arg	coding	Pathogenic
X	9759390	A	T	A9759390T	GPR143	NM_000273.3(GPR143):c.397T>A:p.Trp133Arg	coding	Pathogenic
X	9759416	T	C	T9759416C	GPR143	NM_000273.3(GPR143):c.371A>G:p.Gln124Arg	coding	Benign/Likely_benign
X	9760704	G	C	G9760704C	GPR143	NM_000273.3(GPR143):c.360+13C>G	noncoding	Benign
X	9760811	G	A	G9760811A	GPR143	NM_000273.3(GPR143):c.266C>T:p.Ser89Phe	coding	Pathogenic
X	9765586	C	T	C9765586T	GPR143	NM_000273.3(GPR143):c.232G>A:p.Asp78Asn	coding	Pathogenic/Likely_pathogenic
X	9765714	C	T	C9765714T	GPR143	NM_000273.3(GPR143):c.104G>A:p.Gly35Asp	coding	Pathogenic
X	9765771	G	T	G9765771T	GPR143	NM_000273.3(GPR143):c.47C>A:p.Ala16Glu	coding	Benign
X	9765816	A	G	A9765816G	GPR143	NM_000273.3(GPR143):c.2T>C:p.Met1Thr	coding	Pathogenic
X	9896103	T	A	T9896103A	SHROOM2	NM_001649.4(SHROOM2):c.2195T>A:p.Leu732Gln	coding	Benign
X	9896403	C	T	C9896403T	SHROOM2	NM_001649.4(SHROOM2):c.2495C>T:p.Ala832Val	coding	Benign
X	9937320	G	C	G9937320C	SHROOM2	NM_001649.4(SHROOM2):c.3774G>C:p.Ser1258=	coding	Benign
X	10067421	G	A	G10067421A	WWC3	NM_015691.4(WWC3):c.151G>A:p.Glu51Lys	coding	Benign
X	10109916	G	A	G10109916A	WWC3	NM_015691.4(WWC3):c.870G>A:p.Gln290=	coding	Benign
X	10117253	G	A	G10117253A	WWC3	NM_015691.4(WWC3):c.1194G>A:p.Pro398=	coding	Benign
X	10117271	C	T	C10117271T	WWC3	NM_015691.4(WWC3):c.1212C>T:p.Asp404=	coding	Benign
X	10134514	G	A	G10134514A	WWC3	NM_015691.4(WWC3):c.2681G>A:p.Arg894Gln	coding	Benign
X	10136709	C	A	C10136709A	WWC3	NM_015691.4(WWC3):c.2840C>A:p.Thr947Asn	coding	Benign
X	10136714	C	T	C10136714T	WWC3	NM_015691.4(WWC3):c.2845C>T:p.Arg949Cys	coding	Benign
X	10138726	G	A	G10138726A	WWC3	NM_015691.4(WWC3):c.2874G>A:p.Leu958=	coding	Benign
X	10185110	G	A	G10185110A	CLCN4	NM_001830.4(CLCN4):c.78G>A:p.Thr26=	coding	Benign
X	10187535	G	A	G10187535A	CLCN4	NM_001830.4(CLCN4):c.165G>A:p.Glu55=	coding	Benign
X	10187602	G	A	G10187602A	CLCN4	NM_001830.4(CLCN4):c.232G>A:p.Gly78Ser	coding	Pathogenic
X	10187618	C	G	C10187618G	CLCN4	NM_001830.4(CLCN4):c.244+4C>G	noncoding	Benign/Likely_benign
X	10194930	C	T	C10194930T	CLCN4	NM_001830.4(CLCN4):c.264C>T:p.Ile88=	coding	Benign
X	10194954	G	A	G10194954A	CLCN4	NM_001830.4(CLCN4):c.288G>A:p.Thr96=	coding	Benign
X	10206437	T	G	T10206437G	CLCN4	NM_001830.4(CLCN4):c.635T>G:p.Val212Gly	coding	Pathogenic
X	10206453	C	T	C10206453T	CLCN4	NM_001830.4(CLCN4):c.651C>T:p.Ser217=	coding	Benign
X	10206463	C	G	C10206463G	CLCN4	NM_001830.4(CLCN4):c.661C>G:p.Leu221Val	coding	Pathogenic
X	10206464	T	C	T10206464C	CLCN4	NM_001830.4(CLCN4):c.662T>C:p.Leu221Pro	coding	Pathogenic
X	10206549	G	A	G10206549A	CLCN4	NM_001830.4(CLCN4):c.747G>A:p.Glu249=	coding	Benign
X	10206756	G	A	G10206756A	CLCN4	NM_001830.4(CLCN4):c.823G>A:p.Val275Met	coding	Pathogenic/Likely_pathogenic
X	10208037	C	G	C10208037G	CLCN4	NM_001830.4(CLCN4):c.844-8C>G	noncoding	Benign/Likely_benign
X	10208149	C	T	C10208149T	CLCN4	NM_001830.4(CLCN4):c.948C>T:p.Leu316=	coding	Benign
X	10208263	C	T	C10208263T	CLCN4	NM_001830.4(CLCN4):c.1062C>T:p.Ile354=	coding	Benign
X	10208564	G	A	G10208564A	CLCN4	NM_001830.4(CLCN4):c.1363G>A:p.Val455Ile	coding	Benign
X	10212463	C	T	C10212463T	CLCN4	NM_001830.4(CLCN4):c.1390-4C>T	noncoding	Benign
X	10212475	G	A	G10212475A	CLCN4	NM_001830.4(CLCN4):c.1398G>A:p.Ser466=	coding	Benign
X	10212535	C	T	C10212535T	CLCN4	NM_001830.4(CLCN4):c.1458C>T:p.Gly486=	coding	Benign
X	10212556	T	C	T10212556C	CLCN4	NM_001830.4(CLCN4):c.1479T>C:p.His493=	coding	Benign
X	10212625	C	T	C10212625T	CLCN4	NM_001830.4(CLCN4):c.1548C>T:p.Tyr516=	coding	Benign
X	10212643	G	A	G10212643A	CLCN4	NM_001830.4(CLCN4):c.1566G>A:p.Ala522=	coding	Benign
X	10212652	C	T	C10212652T	CLCN4	NM_001830.4(CLCN4):c.1575C>T:p.Leu525=	coding	Benign
X	10212658	G	A	G10212658A	CLCN4	NM_001830.4(CLCN4):c.1576+5G>A	noncoding	Benign
X	10213675	T	C	T10213675C	CLCN4	NM_001830.4(CLCN4):c.1577-6T>C	noncoding	Benign
X	10213705	C	T	C10213705T	CLCN4	NM_001830.4(CLCN4):c.1601C>T:p.Ser534Leu	coding	Pathogenic
X	10213710	G	A	G10213710A	CLCN4	NM_001830.4(CLCN4):c.1606G>A:p.Val536Met	coding	Pathogenic
X	10213734	G	A	G10213734A	CLCN4	NM_001830.4(CLCN4):c.1630G>A:p.Gly544Arg	coding	Pathogenic
X	10213734	G	C	G10213734C	CLCN4	NM_001830.4(CLCN4):c.1630G>C:p.Gly544Arg	coding	Pathogenic
X	10213799	A	G	A10213799G	CLCN4	NM_001830.4(CLCN4):c.1695A>G:p.Ala565=	coding	Benign
X	10213820	C	T	C10213820T	CLCN4	NM_001830.4(CLCN4):c.1716C>T:p.Tyr572=	coding	Benign
X	10213862	G	A	G10213862A	CLCN4	NM_001830.4(CLCN4):c.1758G>A:p.Val586=	coding	Benign/Likely_benign
X	10213967	C	T	C10213967T	CLCN4	NM_001830.4(CLCN4):c.1863C>T:p.Asp621=	coding	Benign
X	10213991	C	T	C10213991T	CLCN4	NM_001830.4(CLCN4):c.1887C>T:p.Thr629=	coding	Benign
X	10220665	C	T	C10220665T	CLCN4	NM_001830.4(CLCN4):c.1980C>T:p.Asn660=	coding	Benign
X	10220716	G	A	G10220716A	CLCN4	NM_001830.4(CLCN4):c.2031G>A:p.Thr677=	coding	Benign
X	10220812	G	C	G10220812C	CLCN4	NM_001830.4(CLCN4):c.2127G>C:p.Pro709=	coding	Benign
X	10220837	C	T	C10220837T	CLCN4	NM_001830.4(CLCN4):c.2152C>T:p.Arg718Trp	coding	Pathogenic
X	10220869	G	A	G10220869A	CLCN4	NM_001830.4(CLCN4):c.2184G>A:p.Thr728=	coding	Benign
X	10220876	G	C	G10220876C	CLCN4	NM_001830.4(CLCN4):c.2191G>C:p.Gly731Arg	coding	Pathogenic
X	10233584	G	A	G10233584A	CLCN4	NM_001830.4(CLCN4):c.2283G>A:p.Ter761=	coding	Benign
X	10449404	G	A	G10449404A	MID1	NM_000381.4(MID1):c.1968C>T:p.Ile656=	coding	Benign
X	10449495	A	G	A10449495G	MID1	NM_000381.4(MID1):c.1877T>C:p.Leu626Pro	coding	Pathogenic
X	10449674	T	C	T10449674C	MID1	NM_000381.4(MID1):c.1698A>G:p.Glu566=	coding	Benign/Likely_benign
X	10449709	T	C	T10449709C	MID1	NM_000381.4(MID1):c.1663A>G:p.Ile555Val	coding	Pathogenic
X	10455042	G	A	G10455042A	MID1	NM_000381.4(MID1):c.1483C>T:p.Arg495Ter	coding	Pathogenic
X	10459700	C	G	C10459700G	MID1	NM_000381.4(MID1):c.1393G>C:p.Ala465Pro	coding	Pathogenic
X	10459794	C	T	C10459794T	MID1	NM_000381.4(MID1):c.1299G>A:p.Ser433=	coding	Benign
X	10469712	G	A	G10469712A	MID1	NM_000381.4(MID1):c.1270C>T:p.Gln424Ter	coding	Pathogenic
X	10469716	G	A	G10469716A	MID1	NM_000381.4(MID1):c.1266C>T:p.Thr422=	coding	Benign/Likely_benign
X	10469740	G	A	G10469740A	MID1	NM_000381.4(MID1):c.1242C>T:p.Tyr414=	coding	Benign
X	10469752	G	A	G10469752A	MID1	NM_000381.4(MID1):c.1230C>T:p.Ser410=	coding	Benign
X	10482545	C	T	C10482545T	MID1	NM_000381.4(MID1):c.948G>A:p.Ala316=	coding	Benign
X	10482609	A	G	A10482609G	MID1	NM_000381.4(MID1):c.884T>C:p.Leu295Pro	coding	Pathogenic
X	10495587	C	T	C10495587T	MID1	NM_000381.4(MID1):c.861G>A:p.Gly287=	coding	Benign
X	10495619	G	A	G10495619A	MID1	NM_000381.4(MID1):c.829C>T:p.Arg277Ter	coding	Pathogenic
X	10495692	C	G	C10495692G	MID1	NM_000381.4(MID1):c.757-1G>C	coding	Pathogenic
X	10523087	C	T	C10523087T	MID1	NM_000381.4(MID1):c.756+5G>A	noncoding	Pathogenic
X	10523136	C	A	C10523136A	MID1	NM_000381.4(MID1):c.712G>T:p.Glu238Ter	coding	Pathogenic
X	10566906	C	T	C10566906T	MID1	NM_000381.4(MID1):c.642G>A:p.Glu214=	coding	Benign
X	10566960	G	C	G10566960C	MID1	NM_000381.4(MID1):c.588C>G:p.Ala196=	coding	Benign/Likely_benign
X	10567050	C	T	C10567050T	MID1	NM_000381.4(MID1):c.498G>A:p.Pro166=	coding	Benign
X	10567205	C	A	C10567205A	MID1	NM_000381.4(MID1):c.343G>T:p.Glu115Ter	coding	Pathogenic
X	10567246	C	T	C10567246T	MID1	NM_000381.4(MID1):c.302G>A:p.Arg101His	coding	Benign
X	10567473	G	A	G10567473A	MID1	NM_000381.4(MID1):c.75C>T:p.Cys25=	coding	Benign
X	11114909	C	T	C11114909T	HCCS	NM_005333.5(HCCS):c.175C>T:p.Arg59Cys	coding	Benign
X	11114923	C	T	C11114923T	HCCS	NM_005333.5(HCCS):c.189C>T:p.Tyr63=	coding	Benign
X	11114949	C	T	C11114949T	HCCS	NM_005333.5(HCCS):c.215C>T:p.Ala72Val	coding	Benign
X	11114950	G	C	G11114950C	HCCS	NM_005333.5(HCCS):c.216G>C:p.Ala72=	coding	Benign/Likely_benign
X	11118574	G	A	G11118574A	HCCS	NM_005333.5(HCCS):c.475G>A:p.Glu159Lys	coding	Pathogenic
X	11118627	A	G	A11118627G	HCCS	NM_005333.5(HCCS):c.521+7A>G	noncoding	Benign/Likely_benign
X	11120934	C	A	C11120934A	HCCS	NM_005333.5(HCCS):c.549C>A:p.Ile183=	coding	Benign
X	11120974	C	T	C11120974T	HCCS	NM_005333.5(HCCS):c.589C>T:p.Arg197Ter	coding	Pathogenic
X	11121652	C	T	C11121652T	HCCS	NM_005333.5(HCCS):c.649C>T:p.Arg217Cys	coding	Pathogenic
X	11121700	G	A	G11121700A	HCCS	NM_005333.5(HCCS):c.697G>A:p.Glu233Lys	coding	Benign
X	11139012	G	A	G11139012A	ARHGAP6	NM_013427.3(ARHGAP6):c.2776C>T:p.Leu926=	coding	Benign
X	11139069	G	C	G11139069C	ARHGAP6	NM_013427.3(ARHGAP6):c.2719C>G:p.Pro907Ala	coding	Benign
X	11139078	C	A	C11139078A	ARHGAP6	NM_013427.3(ARHGAP6):c.2710G>T:p.Val904Leu	coding	Benign
X	11139265	C	T	C11139265T	ARHGAP6	NM_013427.3(ARHGAP6):c.2523G>A:p.Leu841=	coding	Benign
X	11144077	C	T	C11144077T	ARHGAP6	NM_013427.3(ARHGAP6):c.2079G>A:p.Ser693=	coding	Benign
X	11178130	G	A	G11178130A	ARHGAP6	NM_013427.3(ARHGAP6):c.1599C>T:p.Ala533=	coding	Benign
X	11178151	G	T	G11178151T	ARHGAP6	NM_013427.3(ARHGAP6):c.1578C>A:p.Leu526=	coding	Benign
X	11186270	C	T	C11186270T	ARHGAP6	NM_013427.3(ARHGAP6):c.1239G>A:p.Leu413=	coding	Benign
X	11294790	T	C	T11294790C	AMELX	NM_001142.2(AMELX):c.2T>C:p.Met1Thr	coding	Pathogenic
X	11294799	G	C	G11294799C	AMELX	NM_001142.2(AMELX):c.11G>C:p.Trp4Ser	coding	Pathogenic
X	11298243	C	T	C11298243T	AMELX	NM_001142.2(AMELX):c.110C>T:p.Thr37Ile	coding	Pathogenic
X	11298569	C	A	C11298569A	AMELX	NM_001142.2(AMELX):c.166C>A:p.Pro56Thr	coding	Pathogenic
X	11298622	C	T	C11298622T	AMELX	NM_001142.2(AMELX):c.219C>T:p.His73=	coding	Benign
X	11298739	C	A	C11298739A	AMELX	NM_001142.2(AMELX):c.336C>A:p.Ile112=	coding	Benign
X	11298839	G	T	G11298839T	AMELX	NM_001142.2(AMELX):c.436G>T:p.Val146Leu	coding	Benign
X	11298877	G	A	G11298877A	AMELX	NM_001142.2(AMELX):c.474G>A:p.Leu158=	coding	Benign
X	11298932	G	T	G11298932T	AMELX	NM_001142.2(AMELX):c.529G>T:p.Glu177Ter	coding	Pathogenic
X	11298973	G	C	G11298973C	AMELX	NM_001142.2(AMELX):c.570G>C:p.Val190=	coding	Benign
X	11664259	G	A	G11664259A	ARHGAP6	NM_013427.3(ARHGAP6):c.570C>T:p.Tyr190=	coding	Benign
X	11765730	G	A	G11765730A	MSL3	NM_078629.4(MSL3):c.1171+1G>A	coding	Pathogenic
X	11772188	C	A	C11772188A	MSL3	NM_078629.4(MSL3):c.1314C>A:p.Tyr438Ter	coding	Pathogenic
X	11772234	C	T	C11772234T	MSL3	NM_078629.4(MSL3):c.1360C>T:p.Gln454Ter	coding	Pathogenic
X	11772618	C	T	C11772618T	MSL3	NM_078629.4(MSL3):c.1382-3C>T	noncoding	Benign
X	12498716	G	A	G12498716A	FRMPD4	NM_001368397.1(FRMPD4):c.78G>A:p.Ser26=	coding	Benign
X	12614847	G	A	G12614847A	FRMPD4	NM_001368397.1(FRMPD4):c.388G>A:p.Ala130Thr	coding	Benign/Likely_benign
X	12690254	C	G	C12690254G	FRMPD4	NM_001368397.1(FRMPD4):c.741C>G:p.Leu247=	coding	Benign
X	12694377	C	T	C12694377T	FRMPD4	NM_014728.3(FRMPD4):c.856C>T:p.Arg286Ter	coding	Pathogenic
X	12694455	G	A	G12694455A	FRMPD4	NM_001368397.1(FRMPD4):c.933+1G>A	coding	Pathogenic
X	12704497	C	G	C12704497G	FRMPD4	NM_001368397.1(FRMPD4):c.1197+12C>G	noncoding	Benign
X	12706852	T	C	T12706852C	FRMPD4	NM_001368397.1(FRMPD4):c.1224T>C:p.His408=	coding	Benign
X	12716116	T	C	T12716116C	FRMPD4	NM_014728.3(FRMPD4):c.1657T>C:p.Cys553Arg	coding	Pathogenic
X	12716187	G	A	G12716187A	FRMPD4	NM_001368397.1(FRMPD4):c.1728G>A:p.Lys576=	coding	Benign
X	12716195	C	T	C12716195T	FRMPD4	NM_001368397.1(FRMPD4):c.1736C>T:p.Thr579Met	coding	Benign
X	12716280	C	T	C12716280T	FRMPD4	NM_001368397.1(FRMPD4):c.1821C>T:p.Asn607=	coding	Benign
X	12716299	G	A	G12716299A	FRMPD4	NM_001368397.1(FRMPD4):c.1840G>A:p.Gly614Arg	coding	Benign
X	12716462	C	A	C12716462A	FRMPD4	NM_001368397.1(FRMPD4):c.2003C>A:p.Thr668Asn	coding	Benign
X	12716619	C	T	C12716619T	FRMPD4	NM_001368397.1(FRMPD4):c.2160C>T:p.Gly720=	coding	Benign
X	12716805	C	T	C12716805T	FRMPD4	NM_001368397.1(FRMPD4):c.2346C>T:p.Asp782=	coding	Benign
X	12717058	A	G	A12717058G	FRMPD4	NM_001368397.1(FRMPD4):c.2599A>G:p.Asn867Asp	coding	Benign/Likely_benign
X	12717063	C	T	C12717063T	FRMPD4	NM_001368397.1(FRMPD4):c.2604C>T:p.Ala868=	coding	Benign
X	12717099	C	T	C12717099T	FRMPD4	NM_001368397.1(FRMPD4):c.2640C>T:p.Ser880=	coding	Benign
X	12717586	T	C	T12717586C	FRMPD4	NM_001368397.1(FRMPD4):c.2760T>C:p.Ser920=	coding	Benign
X	12717667	A	G	A12717667G	FRMPD4	NM_001368397.1(FRMPD4):c.2841A>G:p.Ala947=	coding	Benign
X	12718086	G	A	G12718086A	FRMPD4	NM_001368397.1(FRMPD4):c.3260G>A:p.Arg1087His	coding	Benign
X	12718205	G	A	G12718205A	FRMPD4	NM_001368397.1(FRMPD4):c.3379G>A:p.Glu1127Lys	coding	Benign/Likely_benign
X	12718392	G	A	G12718392A	FRMPD4	NM_001368397.1(FRMPD4):c.3566G>A:p.Arg1189His	coding	Benign
X	12718528	C	T	C12718528T	FRMPD4	NM_001368397.1(FRMPD4):c.3702C>T:p.Pro1234=	coding	Benign
X	12718591	C	T	C12718591T	FRMPD4	NM_001368397.1(FRMPD4):c.3765C>T:p.Gly1255=	coding	Benign
X	12718639	C	T	C12718639T	FRMPD4	NM_001368397.1(FRMPD4):c.3813C>T:p.His1271=	coding	Benign
X	12718648	C	G	C12718648G	FRMPD4	NM_001368397.1(FRMPD4):c.3822C>G:p.Thr1274=	coding	Benign
X	12718733	C	T	C12718733T	FRMPD4	NM_001368397.1(FRMPD4):c.3907C>T:p.Leu1303=	coding	Benign
X	12885869	A	C	A12885869C	TLR7	NM_016562.4(TLR7):c.361A>C:p.Arg121=	coding	Benign
X	12886163	G	A	G12886163A	TLR7	NM_016562.4(TLR7):c.655G>A:p.Val219Ile	coding	Benign
X	12886173	T	A	T12886173A	TLR7	NM_016562.4(TLR7):c.665T>A:p.Val222Asp	coding	Benign
X	12886851	C	T	C12886851T	TLR7	NM_016562.4(TLR7):c.1343C>T:p.Ala448Val	coding	Benign
X	12887891	G	T	G12887891T	TLR7	NM_016562.4(TLR7):c.2383G>T:p.Val795Phe	coding	Pathogenic
X	12919601	C	T	C12919601T	TLR8	NM_138636.5(TLR8):c.561C>T:p.Cys187=	coding	Benign
X	12921184	G	A	G12921184A	TLR8	NM_138636.5(TLR8):c.2144G>A:p.Arg715Gln	coding	Benign
X	12921287	A	G	A12921287G	TLR8	NM_138636.5(TLR8):c.2247A>G:p.Lys749=	coding	Benign
X	13594844	G	A	G13594844A	EGFL6	NM_015507.4(EGFL6):c.196G>A:p.Glu66Lys	coding	Benign
X	13600018	A	G	A13600018G	EGFL6	NM_015507.4(EGFL6):c.324A>G:p.Arg108=	coding	Benign
X	13600042	C	T	C13600042T	EGFL6	NM_015507.4(EGFL6):c.348C>T:p.Tyr116=	coding	Benign
X	13600045	G	A	G13600045A	EGFL6	NM_015507.4(EGFL6):c.351G>A:p.Lys117=	coding	Benign
X	13603406	C	T	C13603406T	EGFL6	NM_015507.4(EGFL6):c.490C>T:p.Arg164Cys	coding	Benign
X	13627249	G	T	G13627249T	EGFL6	NM_015507.4(EGFL6):c.1524G>T:p.Leu508Phe	coding	Benign
X	13709340	A	T	A13709340T	RAB9A	NM_004251.5(RAB9A):c.594A>T:p.Ser198=	coding	Benign
X	13712372	G	A	G13712372A	TRAPPC2	NM_001011658.4(TRAPPC2):c.*2035C>T	noncoding	Benign
X	13712444	T	C	T13712444C	TRAPPC2	NM_001011658.4(TRAPPC2):c.*1963A>G	noncoding	Benign
X	13712668	G	C	G13712668C	TRAPPC2	NM_001011658.4(TRAPPC2):c.*1739C>G	noncoding	Benign
X	13712773	C	A	C13712773A	TRAPPC2	NM_001011658.4(TRAPPC2):c.*1634G>T	noncoding	Benign
X	13712808	A	G	A13712808G	TRAPPC2	NM_001011658.4(TRAPPC2):c.*1599T>C	noncoding	Benign
X	13712964	C	T	C13712964T	TRAPPC2	NM_001011658.4(TRAPPC2):c.*1443G>A	noncoding	Benign
X	13714439	G	A	G13714439A	TRAPPC2	NM_001011658.4(TRAPPC2):c.391C>T:p.Gln131Ter	coding	Pathogenic
X	13714501	G	T	G13714501T	TRAPPC2	NM_001011658.4(TRAPPC2):c.329C>A:p.Ser110Ter	coding	Pathogenic
X	13716080	A	G	A13716080G	TRAPPC2	NM_001011658.4(TRAPPC2):c.248T>C:p.Phe83Ser	coding	Pathogenic
X	13716530	A	G	A13716530G	TRAPPC2	NM_001011658.4(TRAPPC2):c.238+4T>C	noncoding	Pathogenic
X	13716658	G	A	G13716658A	TRAPPC2	NM_001011658.4(TRAPPC2):c.114C>T:p.Asn38=	coding	Benign
X	13719866	C	T	C13719866T	TRAPPC2	NM_001011658.4(TRAPPC2):c.93+5G>A	noncoding	Pathogenic
X	13719963	T	A	T13719963A	TRAPPC2	NM_001011658.4(TRAPPC2):c.1A>T:p.Met1Leu	coding	Pathogenic
X	13734776	G	T	G13734776T	OFD1	NM_003611.3(OFD1):c.-296G>T	noncoding	Benign
X	13735287	G	T	G13735287T	OFD1	NM_003611.3(OFD1):c.52G>T:p.Glu18Ter	coding	Pathogenic
X	13735307	C	A	C13735307A	OFD1	NM_003611.3(OFD1):c.72C>A:p.Tyr24Ter	coding	Pathogenic
X	13735346	G	A	G13735346A	OFD1	NM_003611.3(OFD1):c.111G>A:p.Lys37=	coding	Pathogenic
X	13735346	G	C	G13735346C	OFD1	NM_003611.3(OFD1):c.111G>C:p.Lys37Asn	coding	Pathogenic
X	13735348	T	C	T13735348C	OFD1	NM_003611.3(OFD1):c.111+2T>C	noncoding	Pathogenic
X	13735349	A	G	A13735349G	OFD1	NM_003611.3(OFD1):c.111+3A>G	noncoding	Benign
X	13736487	C	T	C13736487T	OFD1	NM_003611.3(OFD1):c.121C>T:p.Arg41Ter	coding	Pathogenic
X	13736515	A	G	A13736515G	OFD1	NM_003611.3(OFD1):c.149A>G:p.His50Arg	coding	Pathogenic
X	13736587	C	T	C13736587T	OFD1	NM_003611.3(OFD1):c.221C>T:p.Ser74Phe	coding	Pathogenic
X	13736590	A	C	A13736590C	OFD1	NM_003611.3(OFD1):c.224A>C:p.Asn75Thr	coding	Pathogenic
X	13736596	T	C	T13736596C	OFD1	NM_003611.3(OFD1):c.230T>C:p.Leu77Ser	coding	Pathogenic
X	13736601	G	A	G13736601A	OFD1	NM_003611.3(OFD1):c.235G>A:p.Ala79Thr	coding	Pathogenic
X	13736607	C	G	C13736607G	OFD1	NM_003611.3(OFD1):c.241C>G:p.His81Asp	coding	Pathogenic
X	13736609	C	G	C13736609G	OFD1	NM_003611.3(OFD1):c.243C>G:p.His81Gln	coding	Pathogenic
X	13736613	C	T	C13736613T	OFD1	NM_003611.3(OFD1):c.247C>T:p.Gln83Ter	coding	Pathogenic
X	13736626	A	G	A13736626G	OFD1	NM_003611.3(OFD1):c.260A>G:p.Tyr87Cys	coding	Pathogenic
X	13736640	T	C	T13736640C	OFD1	NM_003611.3(OFD1):c.274T>C:p.Ser92Pro	coding	Pathogenic
X	13736643	G	T	G13736643T	OFD1	NM_003611.3(OFD1):c.277G>T:p.Val93Phe	coding	Pathogenic
X	13736656	A	G	A13736656G	OFD1	NM_003611.3(OFD1):c.290A>G:p.Glu97Gly	coding	Pathogenic
X	13738870	C	T	C13738870T	OFD1	NM_003611.3(OFD1):c.337C>T:p.Gln113Ter	coding	Pathogenic
X	13738877	T	A	T13738877A	OFD1	NM_003611.3(OFD1):c.344T>A:p.Ile115Asn	coding	Pathogenic
X	13738892	C	T	C13738892T	OFD1	NM_003611.3(OFD1):c.359C>T:p.Thr120Ile	coding	Benign
X	13738905	C	G	C13738905G	OFD1	NM_003611.3(OFD1):c.372C>G:p.Tyr124Ter	coding	Pathogenic
X	13738999	C	G	C13738999G	OFD1	NM_003611.3(OFD1):c.382-3C>G	noncoding	Pathogenic
X	13739000	A	G	A13739000G	OFD1	NM_003611.3(OFD1):c.382-2A>G	noncoding	Pathogenic
X	13739032	G	A	G13739032A	OFD1	NM_003611.3(OFD1):c.412G>A:p.Gly138Ser	coding	Pathogenic
X	13744405	T	G	T13744405G	OFD1	NM_003611.3(OFD1):c.413-10T>G	noncoding	Pathogenic
X	13744424	T	G	T13744424G	OFD1	NM_003611.3(OFD1):c.422T>G:p.Met141Arg	coding	Pathogenic
X	13744433	T	A	T13744433A	OFD1	NM_003611.3(OFD1):c.431T>A:p.Leu144Ter	coding	Pathogenic
X	13744456	C	T	C13744456T	OFD1	NM_003611.3(OFD1):c.454C>T:p.Gln152Ter	coding	Pathogenic
X	13744478	T	C	T13744478C	OFD1	NM_003611.3(OFD1):c.476T>C:p.Met159Thr	coding	Benign
X	13746318	G	A	G13746318A	OFD1	NM_003611.3(OFD1):c.518-1G>A	noncoding	Pathogenic
X	13746366	C	T	C13746366T	OFD1	NM_003611.3(OFD1):c.565C>T:p.Gln189Ter	coding	Pathogenic
X	13746368	G	A	G13746368A	OFD1	NM_003611.3(OFD1):c.567G>A:p.Gln189=	coding	Benign
X	13746370	G	A	G13746370A	OFD1	NM_003611.3(OFD1):c.569G>A:p.Arg190His	coding	Benign
X	13746400	T	C	T13746400C	OFD1	NM_003611.3(OFD1):c.599T>C:p.Leu200Pro	coding	Pathogenic
X	13746429	C	T	C13746429T	OFD1	NM_003611.3(OFD1):c.628C>T:p.Gln210Ter	coding	Pathogenic
X	13746484	G	A	G13746484A	OFD1	NM_003611.3(OFD1):c.654+29G>A	noncoding	Benign
X	13746778	A	G	A13746778G	OFD1	NM_003611.3(OFD1):c.655-2A>G	noncoding	Pathogenic
X	13746813	A	G	A13746813G	OFD1	NM_003611.3(OFD1):c.688A>G:p.Ile230Val	coding	Benign
X	13746839	T	C	T13746839C	OFD1	NM_003611.3(OFD1):c.714T>C:p.Tyr238=	coding	Benign
X	13746873	G	T	G13746873T	OFD1	NM_003611.3(OFD1):c.748G>T:p.Glu250Ter	coding	Pathogenic
X	13746948	C	T	C13746948T	OFD1	NM_003611.3(OFD1):c.823C>T:p.Gln275Ter	coding	Pathogenic
X	13749469	A	T	A13749469T	OFD1	NM_003611.3(OFD1):c.871A>T:p.Lys291Ter	coding	Pathogenic
X	13750239	A	G	A13750239G	OFD1	NM_003611.3(OFD1):c.935+706A>G	noncoding	Pathogenic
X	13751333	G	A	G13751333A	OFD1	NM_003611.3(OFD1):c.1020G>A:p.Glu340=	coding	Benign
X	13753366	A	T	A13753366T	OFD1	NM_003611.3(OFD1):c.1056-2A>T	noncoding	Pathogenic
X	13753411	C	T	C13753411T	OFD1	NM_003611.3(OFD1):c.1099C>T:p.Arg367Ter	coding	Pathogenic
X	13753449	T	A	T13753449A	OFD1	NM_003611.3(OFD1):c.1129+8T>A	noncoding	Benign/Likely_benign
X	13753457	A	G	A13753457G	OFD1	NM_003611.3(OFD1):c.1129+16A>G	noncoding	Benign
X	13756620	A	G	A13756620G	OFD1	NM_003611.3(OFD1):c.1264A>G:p.Lys422Glu	coding	Benign
X	13756659	A	C	A13756659C	OFD1	NM_003611.3(OFD1):c.1303A>C:p.Ser435Arg	coding	Pathogenic
X	13756669	C	G	C13756669G	OFD1	NM_003611.3(OFD1):c.1313C>G:p.Ser438Ter	coding	Pathogenic
X	13756714	T	A	T13756714A	OFD1	NM_003611.3(OFD1):c.1358T>A:p.Leu453Ter	coding	Pathogenic
X	13757338	G	A	G13757338A	OFD1	NM_003611.3(OFD1):c.1412-322G>A	noncoding	Pathogenic
X	13757668	C	T	C13757668T	OFD1	NM_003611.3(OFD1):c.1420C>T:p.Gln474Ter	coding	Pathogenic
X	13757784	A	G	A13757784G	OFD1	NM_003611.3(OFD1):c.1536A>G:p.Gln512=	coding	Benign/Likely_benign
X	13758335	A	C	A13758335C	OFD1	NM_003611.3(OFD1):c.1543-2A>C	noncoding	Pathogenic
X	13758388	G	A	G13758388A	OFD1	NM_003611.3(OFD1):c.1594G>A:p.Val532Ile	coding	Benign
X	13758406	C	T	C13758406T	OFD1	NM_003611.3(OFD1):c.1612C>T:p.Gln538Ter	coding	Pathogenic
X	13758456	A	G	A13758456G	OFD1	NM_003611.3(OFD1):c.1654+8A>G	noncoding	Benign
X	13758457	C	T	C13758457T	OFD1	NM_003611.3(OFD1):c.1654+9C>T	noncoding	Benign
X	13760154	T	C	T13760154C	OFD1	NM_003611.3(OFD1):c.1694T>C:p.Val565Ala	coding	Benign
X	13760190	A	G	A13760190G	OFD1	NM_003611.3(OFD1):c.1730A>G:p.Asn577Ser	coding	Benign/Likely_benign
X	13760336	G	C	G13760336C	OFD1	NM_003611.3(OFD1):c.1876G>C:p.Glu626Gln	coding	Benign
X	13760383	G	A	G13760383A	OFD1	NM_003611.3(OFD1):c.1923G>A:p.Glu641=	coding	Benign
X	13760390	C	T	C13760390T	OFD1	NM_003611.3(OFD1):c.1930C>T:p.Arg644Cys	coding	Benign/Likely_benign
X	13760493	C	G	C13760493G	OFD1	NM_003611.3(OFD1):c.2033C>G:p.Ala678Gly	coding	Benign/Likely_benign
X	13760504	A	C	A13760504C	OFD1	NM_003611.3(OFD1):c.2044A>C:p.Ile682Leu	coding	Benign
X	13760512	C	G	C13760512G	OFD1	NM_003611.3(OFD1):c.2052C>G:p.Ser684=	coding	Benign
X	13760512	C	T	C13760512T	OFD1	NM_003611.3(OFD1):c.2052C>T:p.Ser684=	coding	Benign
X	13760695	C	T	C13760695T	OFD1	NM_003611.3(OFD1):c.2235C>T:p.Ser745=	coding	Benign
X	13761084	G	T	G13761084T	OFD1	NM_003611.3(OFD1):c.2261-1G>T	noncoding	Pathogenic
X	13761151	C	G	C13761151G	OFD1	NM_003611.3(OFD1):c.2327C>G:p.Thr776Ser	coding	Benign
X	13761200	G	A	G13761200A	OFD1	NM_003611.3(OFD1):c.2376G>A:p.Glu792=	coding	Benign
X	13761222	C	T	C13761222T	OFD1	NM_003611.3(OFD1):c.2387+11C>T	noncoding	Benign
X	13762354	A	G	A13762354G	OFD1	NM_003611.3(OFD1):c.2398A>G:p.Arg800Gly	coding	Benign/Likely_benign
X	13762438	T	G	T13762438G	OFD1	NM_003611.3(OFD1):c.2482T>G:p.Phe828Val	coding	Benign
X	13763780	G	A	G13763780A	OFD1	NM_003611.3(OFD1):c.2524G>A:p.Gly842Arg	coding	Benign/Likely_benign
X	13767123	T	G	T13767123G	OFD1	NM_003611.3(OFD1):c.2600-4T>G	noncoding	Benign
X	13767190	A	C	A13767190C	OFD1	NM_003611.3(OFD1):c.2663A>C:p.Lys888Thr	coding	Benign
X	13767195	C	T	C13767195T	OFD1	NM_003611.3(OFD1):c.2668C>T:p.Arg890Ter	coding	Pathogenic
X	13767252	C	T	C13767252T	OFD1	NM_003611.3(OFD1):c.2725C>T:p.Arg909Ter	coding	Pathogenic
X	13768093	G	T	G13768093T	OFD1	NM_003611.3(OFD1):c.2797G>T:p.Glu933Ter	coding	Pathogenic
X	13768111	G	T	G13768111T	OFD1	NM_003611.3(OFD1):c.2815G>T:p.Glu939Ter	coding	Pathogenic
X	13768700	C	T	C13768700T	OFD1	NM_003611.3(OFD1):c.2929-18C>T	noncoding	Benign
X	13768748	C	A	C13768748A	OFD1	NM_003611.3(OFD1):c.2959C>A:p.Leu987Ile	coding	Benign
X	13769111	A	G	A13769111G	OFD1	NM_003611.3(OFD1):c.*3A>G	noncoding	Benign/Likely_benign
X	13776244	A	G	A13776244G	GPM6B	NM_001001995.3(GPM6B):c.831T>C:p.Ile277=	coding	Benign
X	14020415	G	C	G14020415C	GEMIN8	NM_001042480.2(GEMIN8):c.135C>G:p.Ala45=	coding	Benign
X	14020459	C	A	C14020459A	GEMIN8	NM_001042480.2(GEMIN8):c.91G>T:p.Ala31Ser	coding	Benign
X	14020542	A	G	A14020542G	GEMIN8	NM_001042480.2(GEMIN8):c.16-8T>C	noncoding	Benign
X	14730215	C	T	C14730215T	GLRA2	NM_002063.4(GLRA2):c.1089C>T:p.Asp363=	coding	Benign
X	14843501	A	C	A14843501C	FANCB	NM_001018113.3(FANCB):c.*66T>G	noncoding	Benign
X	14843534	A	G	A14843534G	FANCB	NM_001018113.3(FANCB):c.*33T>C	noncoding	Benign
X	14843553	A	G	A14843553G	FANCB	NM_001018113.3(FANCB):c.*14T>C	noncoding	Benign
X	14843670	G	A	G14843670A	FANCB	NM_001018113.3(FANCB):c.2477C>T:p.Thr826Met	coding	Benign/Likely_benign
X	14843695	T	C	T14843695C	FANCB	NM_001018113.3(FANCB):c.2452A>G:p.Arg818Gly	coding	Benign/Likely_benign
X	14843736	T	C	T14843736C	FANCB	NM_001018113.3(FANCB):c.2411A>G:p.Asp804Gly	coding	Benign
X	14843753	G	A	G14843753A	FANCB	NM_001018113.3(FANCB):c.2394C>T:p.Val798=	coding	Benign
X	14843805	T	C	T14843805C	FANCB	NM_001018113.3(FANCB):c.2342A>G:p.Glu781Gly	coding	Benign/Likely_benign
X	14843836	T	C	T14843836C	FANCB	NM_001018113.3(FANCB):c.2311A>G:p.Ser771Gly	coding	Benign
X	14844493	T	A	T14844493A	FANCB	NM_001018113.3(FANCB):c.2165+10A>T	noncoding	Benign
X	14844502	C	A	C14844502A	FANCB	NM_001018113.3(FANCB):c.2165+1G>T	noncoding	Pathogenic
X	14844518	A	C	A14844518C	FANCB	NM_001018113.3(FANCB):c.2150T>G:p.Leu717Ter	coding	Pathogenic
X	14844578	G	A	G14844578A	FANCB	NM_001018113.3(FANCB):c.2090C>T:p.Pro697Leu	coding	Benign
X	14844673	G	A	G14844673A	FANCB	NM_001018113.3(FANCB):c.1995C>T:p.Pro665=	coding	Benign
X	14844681	T	C	T14844681C	FANCB	NM_001018113.3(FANCB):c.1987A>G:p.Thr663Ala	coding	Benign
X	14845145	T	A	T14845145A	FANCB	NM_001018113.3(FANCB):c.1638A>T:p.Gly546=	coding	Benign
X	14850500	C	T	C14850500T	FANCB	NM_001018113.3(FANCB):c.1496+5G>A	noncoding	Pathogenic
X	14850507	C	A	C14850507A	FANCB	NM_001018113.3(FANCB):c.1494G>T:p.Lys498Asn	coding	Benign
X	14850559	C	T	C14850559T	FANCB	NM_001018113.3(FANCB):c.1442G>A:p.Arg481His	coding	Benign
X	14850608	A	G	A14850608G	FANCB	NM_001018113.3(FANCB):c.1393T>C:p.Ser465Pro	coding	Benign
X	14850670	T	A	T14850670A	FANCB	NM_001018113.3(FANCB):c.1331A>T:p.Glu444Val	coding	Benign
X	14850684	A	G	A14850684G	FANCB	NM_001018113.3(FANCB):c.1327-10T>C	noncoding	Benign
X	14853055	G	A	G14853055A	FANCB	NM_001018113.3(FANCB):c.1310C>T:p.Thr437Met	coding	Benign
X	14857919	A	T	A14857919T	FANCB	NM_001018113.3(FANCB):c.1140T>A:p.Phe380Leu	coding	Benign/Likely_benign
X	14859183	G	T	G14859183T	FANCB	NM_001018113.3(FANCB):c.1103C>A:p.Ser368Ter	coding	Pathogenic
X	14859219	G	A	G14859219A	FANCB	NM_001018113.3(FANCB):c.1067C>T:p.Ser356Leu	coding	Benign
X	14859282	C	T	C14859282T	FANCB	NM_001018113.3(FANCB):c.1004G>A:p.Gly335Glu	coding	Benign
X	14859300	A	G	A14859300G	FANCB	NM_001018113.3(FANCB):c.986T>C:p.Leu329Pro	coding	Pathogenic
X	14859326	A	C	A14859326C	FANCB	NM_001018113.3(FANCB):c.960T>G:p.Ala320=	coding	Benign
X	14864562	G	A	G14864562A	FANCB	NM_001018113.3(FANCB):c.949C>T:p.Gln317Ter	coding	Pathogenic
X	14864614	G	A	G14864614A	FANCB	NM_001018113.3(FANCB):c.897C>T:p.Phe299=	coding	Benign
X	14864642	A	G	A14864642G	FANCB	NM_001018113.3(FANCB):c.869T>C:p.Met290Thr	coding	Benign/Likely_benign
X	14864805	C	T	C14864805T	FANCB	NM_001018113.3(FANCB):c.706G>A:p.Val236Met	coding	Benign
X	14864959	C	T	C14864959T	FANCB	NM_001018113.3(FANCB):c.552G>A:p.Leu184=	coding	Benign
X	14864998	C	T	C14864998T	FANCB	NM_001018113.3(FANCB):c.513G>A:p.Gln171=	coding	Benign
X	14865004	A	G	A14865004G	FANCB	NM_001018113.3(FANCB):c.507T>C:p.Ser169=	coding	Benign
X	14865007	G	C	G14865007C	FANCB	NM_001018113.3(FANCB):c.504C>G:p.Ser168=	coding	Benign
X	14865109	T	C	T14865109C	FANCB	NM_001018113.3(FANCB):c.402A>G:p.Leu134=	coding	Benign/Likely_benign
X	14865149	C	T	C14865149T	FANCB	NM_001018113.3(FANCB):c.362G>A:p.Arg121His	coding	Benign
X	14865181	T	G	T14865181G	FANCB	NM_001018113.3(FANCB):c.330A>C:p.Leu110=	coding	Benign
X	14865249	C	T	C14865249T	FANCB	NM_001018113.3(FANCB):c.262G>A:p.Gly88Arg	coding	Benign
X	14865383	A	G	A14865383G	FANCB	NM_001018113.3(FANCB):c.128T>C:p.Leu43Ser	coding	Pathogenic
X	14865442	A	G	A14865442G	FANCB	NM_001018113.3(FANCB):c.69T>C:p.Leu23=	coding	Benign/Likely_benign
X	14865481	G	T	G14865481T	FANCB	NM_001018113.3(FANCB):c.30C>A:p.Asn10Lys	coding	Benign
X	14869025	C	G	C14869025G	FANCB	NM_001018113.3(FANCB):c.-173G>C	noncoding	Benign
X	14873023	A	C	A14873023C	FANCB	NM_001018113.3(FANCB):c.-229T>G	noncoding	Benign
X	14912260	C	T	C14912260T	MOSPD2	NM_152581.4(MOSPD2):c.891C>T:p.Thr297=	coding	Benign
X	14914498	C	A	C14914498A	MOSPD2	NM_152581.4(MOSPD2):c.993-5C>A	noncoding	Benign
X	15287983	C	T	C15287983T	ASB11	NM_080873.3(ASB11):c.745G>A:p.Asp249Asn	coding	Benign
X	15289537	T	A	T15289537A	ASB11	NM_080873.3(ASB11):c.622A>T:p.Arg208Trp	coding	Benign
X	15321499	C	A	C15321499A	PIGA	NM_002641.3(PIGA):c.*7G>T	noncoding	Benign
X	15321540	C	A	C15321540A	PIGA	NM_002641.3(PIGA):c.1421G>T:p.Gly474Val	coding	Benign
X	15321541	C	T	C15321541T	PIGA	NM_002641.3(PIGA):c.1420G>A:p.Gly474Arg	coding	Benign/Likely_benign
X	15321727	G	A	G15321727A	PIGA	NM_002641.3(PIGA):c.1234C>T:p.Arg412Ter	coding	Pathogenic
X	15321747	G	A	G15321747A	PIGA	NM_002641.3(PIGA):c.1214C>T:p.Ala405Val	coding	Benign/Likely_benign
X	15324506	G	A	G15324506A	PIGA	NM_002641.3(PIGA):c.1188+159C>T	noncoding	Benign
X	15324612	G	A	G15324612A	PIGA	NM_002641.3(PIGA):c.1188+53C>T	noncoding	Benign
X	15324661	A	G	A15324661G	PIGA	NM_002641.3(PIGA):c.1188+4T>C	noncoding	Benign
X	15324807	T	C	T15324807C	PIGA	NM_002641.4(PIGA):c.1046A>G:p.Glu349Gly	coding	Benign
X	15325012	C	T	C15325012T	PIGA	NM_002641.3(PIGA):c.981+8G>A	noncoding	Benign/Likely_benign
X	15325122	C	T	C15325122T	PIGA	NM_002641.3(PIGA):c.879G>A:p.Lys293=	coding	Benign/Likely_benign
X	15325175	A	G	A15325175G	PIGA	NM_002641.3(PIGA):c.849-23T>C	noncoding	Benign
X	15326056	T	C	T15326056C	PIGA	NM_002641.3(PIGA):c.716-10A>G	noncoding	Benign/Likely_benign
X	15331048	G	T	G15331048T	PIGA	NM_002641.3(PIGA):c.715+168C>A	noncoding	Benign
X	15331315	T	A	T15331315A	PIGA	NM_020473.3(PIGA):c.13+4186A>T	coding	Pathogenic
X	15331406	A	G	A15331406G	PIGA	NM_002641.3(PIGA):c.525T>C:p.Leu175=	coding	Benign
X	15331547	A	G	A15331547G	PIGA	NM_002641.3(PIGA):c.384T>C:p.His128=	coding	Benign
X	15331576	G	A	G15331576A	PIGA	NM_002641.3(PIGA):c.355C>T:p.Arg119Trp	coding	Pathogenic/Likely_pathogenic
X	15331637	G	T	G15331637T	PIGA	NM_020473.3(PIGA):c.13+3864C>A	coding	Pathogenic
X	15331653	G	A	G15331653A	PIGA	NM_020473.3(PIGA):c.13+3848C>T	coding	Pathogenic
X	15331658	G	A	G15331658A	PIGA	NM_002641.3(PIGA):c.273C>T:p.Tyr91=	coding	Benign/Likely_benign
X	15331681	T	C	T15331681C	PIGA	NM_002641.3(PIGA):c.250A>G:p.Thr84Ala	coding	Benign
X	15331701	C	A	C15331701A	PIGA	NM_020473.3(PIGA):c.13+3800G>T	coding	Pathogenic
X	15331733	C	T	C15331733T	PIGA	NM_002641.3(PIGA):c.198G>A:p.Lys66=	coding	Benign/Likely_benign
X	15331768	G	A	G15331768A	PIGA	NM_020473.3(PIGA):c.13+3733C>T	coding	Pathogenic
X	15331811	G	A	G15331811A	PIGA	NM_002641.3(PIGA):c.120C>T:p.Asp40=	coding	Benign
X	15331876	G	A	G15331876A	PIGA	NM_002641.3(PIGA):c.55C>T:p.Arg19Trp	coding	Benign
X	15335361	G	C	G15335361C	PIGA	NM_002641.3(PIGA):c.-63+140C>G	noncoding	Benign
X	15335488	G	A	G15335488A	PIGA	NM_002641.3(PIGA):c.-63+13C>T	noncoding	Benign
X	15335865	C	G	C15335865G	PIGA	NM_002641.3(PIGA):c.-427G>C	noncoding	Benign
X	15355260	T	C	T15355260C	VEGFD	NM_004469.5(VEGFD):c.531A>G:p.Glu177=	coding	Benign
X	15390251	C	T	C15390251T	PIR	NM_001018109.3(PIR):c.694G>A:p.Asp232Asn	coding	Benign
X	15397459	A	G	A15397459G	PIR	NM_001018109.3(PIR):c.683T>C:p.Val228Ala	coding	Benign
X	15456011	C	A	C15456011A	PIR	NM_001018109.3(PIR):c.317G>T:p.Cys106Phe	coding	Benign
X	15456039	G	A	G15456039A	PIR	NM_001018109.3(PIR):c.289C>T:p.Arg97Trp	coding	Benign
X	15511457	T	A	T15511457A	BMX	NM_203281.3(BMX):c.264T>A:p.Leu88=	coding	Benign
X	15522476	C	T	C15522476T	BMX	NM_203281.3(BMX):c.641C>T:p.Ala214Val	coding	Benign
X	15542189	C	T	C15542189T	BMX	NM_203281.3(BMX):c.1602C>T:p.His534=	coding	Benign
X	15549831	G	C	G15549831C	BMX	NM_203281.3(BMX):c.1796-9G>C	noncoding	Benign
X	15566297	A	G	A15566297G	ACE2	NM_001371415.1(ACE2):c.2070T>C:p.Asn690=	coding	Benign
X	15820288	C	T	C15820288T	ZRSR2	NM_005089.3(ZRSR2):c.909C>T:p.Pro303=	coding	Benign
X	15845378	C	A	C15845378A	AP1S2	NM_001272071.2(AP1S2):c.426+1G>T	noncoding	Pathogenic
X	15845518	T	C	T15845518C	AP1S2	NM_001272071.2(AP1S2):c.289-2A>G	noncoding	Pathogenic
X	15845524	G	A	G15845524A	AP1S2	NM_001272071.2(AP1S2):c.289-8C>T	noncoding	Benign/Likely_benign
X	15845898	C	T	C15845898T	AP1S2	NM_001272071.2(AP1S2):c.288+5G>A	noncoding	Pathogenic
X	15845903	A	G	A15845903G	AP1S2	NM_001272071.2(AP1S2):c.288T>C:p.Ser96=	coding	Benign/Likely_benign
X	15845965	C	A	C15845965A	AP1S2	NM_001272071.2(AP1S2):c.226G>T:p.Glu76Ter	coding	Pathogenic
X	15852371	G	A	G15852371A	AP1S2	NM_001272071.2(AP1S2):c.154C>T:p.Arg52Ter	coding	Pathogenic
X	15852419	G	A	G15852419A	AP1S2	NM_001272071.2(AP1S2):c.106C>T:p.Gln36Ter	coding	Pathogenic
X	15852485	G	A	G15852485A	AP1S2	NM_001272071.2(AP1S2):c.40C>T:p.Arg14Ter	coding	Pathogenic
X	15852527	G	T	G15852527T	AP1S2	NM_001272071.2(AP1S2):c.1-3C>A	noncoding	Pathogenic
X	15854687	C	T	C15854687T	AP1S2	NM_001272071.2(AP1S2):c.-1+1G>A	noncoding	Pathogenic
X	16124349	G	A	G16124349A	GRPR	NM_005314.3(GRPR):c.396G>A:p.Thr132=	coding	Benign
X	16150530	T	C	T16150530C	GRPR	NM_005314.3(GRPR):c.639T>C:p.Ala213=	coding	Benign
X	16152501	G	C	G16152501C	GRPR	NM_005314.3(GRPR):c.1011G>C:p.Leu337=	coding	Benign
X	16609606	C	G	C16609606G	CTPS2	NM_175859.3(CTPS2):c.1626G>C:p.Gly542=	coding	Benign
X	16841706	A	C	A16841706C	TXLNG	NM_018360.3(TXLNG):c.1527A>C:p.Arg509Ser	coding	Benign
X	16869171	G	T	G16869171T	RBBP7	NM_002893.4(RBBP7):c.66C>A:p.Ile22=	coding	Benign
X	17138904	T	C	T17138904C	REPS2	NM_004726.3(REPS2):c.1857T>C:p.Asn619=	coding	Benign
X	17375872	C	T	C17375872T	NHS	NM_198270.4(NHS):c.115C>T:p.Gln39Ter	coding	Pathogenic
X	17375961	A	G	A17375961G	NHS	NM_001291867.2(NHS):c.204A>G:p.Pro68=	coding	Benign
X	17375968	C	T	C17375968T	NHS	NM_001291867.2(NHS):c.211C>T:p.Pro71Ser	coding	Benign/Likely_benign
X	17376034	G	T	G17376034T	NHS	NM_198270.4(NHS):c.277G>T:p.Glu93Ter	coding	Pathogenic
X	17376132	C	A	C17376132A	NHS	NM_198270.4(NHS):c.375C>A:p.Cys125Ter	coding	Pathogenic
X	17376259	C	T	C17376259T	NHS	NM_198270.4(NHS):c.502C>T:p.Gln168Ter	coding	Pathogenic
X	17376285	C	A	C17376285A	NHS	NM_001291867.2(NHS):c.528C>A:p.Arg176=	coding	Benign
X	17376310	C	T	C17376310T	NHS	NM_198270.4(NHS):c.553C>T:p.Gln185Ter	coding	Pathogenic
X	17376323	G	T	G17376323T	NHS	NM_001291867.2(NHS):c.565+1G>T	coding	Pathogenic
X	17687737	T	C	T17687737C	NHS	NM_001291867.2(NHS):c.566-5T>C	noncoding	Benign
X	17687788	C	T	C17687788T	NHS	NM_001291867.2(NHS):c.612C>T:p.Arg204=	coding	Benign
X	17687842	C	T	C17687842T	NHS	NM_001291867.2(NHS):c.666C>T:p.Cys222=	coding	Benign/Likely_benign
X	17687864	G	A	G17687864A	NHS	NM_001291867.2(NHS):c.688G>A:p.Ala230Thr	coding	Benign
X	17692358	C	T	C17692358T	NHS	NM_198270.4(NHS):c.742C>T:p.Arg248Ter	coding	Pathogenic
X	17692382	C	G	C17692382G	NHS	NM_001291867.2(NHS):c.766C>G:p.Leu256Val	coding	Benign
X	17692430	C	T	C17692430T	NHS	NM_001291867.2(NHS):c.814C>T:p.Gln272Ter	coding	Pathogenic
X	17692444	G	A	G17692444A	NHS	NM_001291867.2(NHS):c.828G>A:p.Glu276=	coding	Benign/Likely_benign
X	17721439	A	G	A17721439G	NHS	NM_198270.4(NHS):c.853-2A>G	noncoding	Pathogenic
X	17721541	G	A	G17721541A	NHS	NM_001291867.2(NHS):c.1016G>A:p.Trp339Ter	coding	Pathogenic
X	17724370	C	T	C17724370T	NHS	NM_001291867.2(NHS):c.1180C>T:p.Arg394Ter	coding	Pathogenic
X	17724421	C	T	C17724421T	NHS	NM_001291867.2(NHS):c.1231C>T:p.Gln411Ter	coding	Pathogenic
X	17725607	C	T	C17725607T	NHS	NM_001291867.2(NHS):c.1501C>T:p.Arg501Cys	coding	Benign
X	17725702	G	A	G17725702A	NHS	NM_001291867.2(NHS):c.1596G>A:p.Glu532=	coding	Benign
X	17725820	C	T	C17725820T	NHS	NM_001291867.2(NHS):c.1714C>T:p.Pro572Ser	coding	Benign
X	17725866	T	C	T17725866C	NHS	NM_198270.4(NHS):c.1697T>C:p.Met566Thr	coding	Benign/Likely_benign
X	17726035	G	A	G17726035A	NHS	NM_001291867.2(NHS):c.1929G>A:p.Ser643=	coding	Benign
X	17726199	G	A	G17726199A	NHS	NM_198270.4(NHS):c.2030G>A:p.Arg677Gln	coding	Benign
X	17726436	T	C	T17726436C	NHS	NM_001291867.2(NHS):c.2330T>C:p.Phe777Ser	coding	Benign/Likely_benign
X	17726583	G	A	G17726583A	NHS	NM_001291867.2(NHS):c.2477G>A:p.Trp826Ter	coding	Pathogenic
X	17726699	G	A	G17726699A	NHS	NM_001291867.2(NHS):c.2593G>A:p.Ala865Thr	coding	Benign/Likely_benign
X	17726789	G	A	G17726789A	NHS	NM_001291867.2(NHS):c.2683G>A:p.Ala895Thr	coding	Benign
X	17726838	A	G	A17726838G	NHS	NM_001291867.2(NHS):c.2732A>G:p.Glu911Gly	coding	Benign
X	17726937	A	T	A17726937T	NHS	NM_001291867.2(NHS):c.2831A>T:p.His944Leu	coding	Benign
X	17727163	A	G	A17727163G	NHS	NM_198270.4(NHS):c.2994A>G:p.Ala998=	coding	Benign/Likely_benign
X	17727247	C	T	C17727247T	NHS	NM_001291867.2(NHS):c.3141C>T:p.Pro1047=	coding	Benign
X	17727307	T	C	T17727307C	NHS	NM_001291867.2(NHS):c.3201T>C:p.Ser1067=	coding	Benign
X	17727310	A	G	A17727310G	NHS	NM_001291867.2(NHS):c.3204A>G:p.Leu1068=	coding	Benign
X	17727416	C	T	C17727416T	NHS	NM_001291867.2(NHS):c.3310C>T:p.His1104Tyr	coding	Benign
X	17727651	C	T	C17727651T	NHS	NM_001291867.2(NHS):c.3545C>T:p.Pro1182Leu	coding	Benign
X	17727793	C	A	C17727793A	NHS	NM_198270.4(NHS):c.3624C>A:p.Cys1208Ter	coding	Pathogenic
X	17727891	C	T	C17727891T	NHS	NM_001291867.2(NHS):c.3785C>T:p.Thr1262Met	coding	Benign/Likely_benign
X	17728035	G	T	G17728035T	NHS	NM_001291867.2(NHS):c.3929G>T:p.Gly1310Val	coding	Benign/Likely_benign
X	17728065	T	C	T17728065C	NHS	NM_001291867.2(NHS):c.3959T>C:p.Val1320Ala	coding	Benign
X	17728124	T	C	T17728124C	NHS	NM_001291867.2(NHS):c.4018T>C:p.Phe1340Leu	coding	Benign
X	17728149	G	A	G17728149A	NHS	NM_001291867.2(NHS):c.4043G>A:p.Arg1348His	coding	Benign/Likely_benign
X	17728157	G	A	G17728157A	NHS	NM_001291867.2(NHS):c.4051G>A:p.Asp1351Asn	coding	Benign/Likely_benign
X	17728182	A	G	A17728182G	NHS	NM_001291867.2(NHS):c.4076A>G:p.Tyr1359Cys	coding	Benign
X	17728257	C	G	C17728257G	NHS	NM_001291867.2(NHS):c.4151C>G:p.Ser1384Ter	coding	Pathogenic
X	17728262	A	T	A17728262T	NHS	NM_198270.4(NHS):c.4093A>T:p.Lys1365Ter	coding	Pathogenic
X	17728274	G	A	G17728274A	NHS	NM_001291867.2(NHS):c.4168G>A:p.Asp1390Asn	coding	Benign
X	17731944	G	A	G17731944A	NHS	NM_001291867.2(NHS):c.4436G>A:p.Ser1479Asn	coding	Benign
X	17731956	C	G	C17731956G	NHS	NM_198270.4(NHS):c.4385C>G:p.Ser1462Cys	coding	Pathogenic
X	17732174	T	A	T17732174A	NHS	NM_001291867.2(NHS):c.4666T>A:p.Ser1556Thr	coding	Benign
X	17732340	G	C	G17732340C	NHS	NM_001291867.2(NHS):c.4832G>C:p.Ser1611Thr	coding	Benign/Likely_benign
X	17749482	C	T	C17749482T	SCML1	NM_001037540.3(SCML1):c.281C>T:p.Ala94Val	coding	Benign
X	17800748	T	C	T17800748C	RAI2	NM_001172739.1(RAI2):c.1263A>G:p.Glu421=	coding	Benign
X	17801009	G	T	G17801009T	RAI2	NM_001172739.1(RAI2):c.1002C>A:p.Pro334=	coding	Benign
X	17801198	G	A	G17801198A	RAI2	NM_001172739.1(RAI2):c.813C>T:p.Phe271=	coding	Benign
X	17801238	G	A	G17801238A	RAI2	NM_001172739.1(RAI2):c.773C>T:p.Ser258Phe	coding	Benign
X	17801789	C	T	C17801789T	RAI2	NM_001172739.1(RAI2):c.222G>A:p.Ala74=	coding	Benign
X	18165057	C	T	C18165057T	BEND2	NM_153346.5(BEND2):c.2352G>A:p.Glu784=	coding	Benign
X	18175985	C	A	C18175985A	BEND2	NM_153346.5(BEND2):c.1739G>T:p.Gly580Val	coding	Benign
X	18203626	A	C	A18203626C	BEND2	NM_153346.5(BEND2):c.782T>G:p.Val261Gly	coding	Benign
X	18203814	C	A	C18203814A	BEND2	NM_153346.5(BEND2):c.594G>T:p.Gln198His	coding	Benign
X	18203860	C	A	C18203860A	BEND2	NM_153346.5(BEND2):c.548G>T:p.Ser183Ile	coding	Benign
X	18425432	C	G	C18425432G	CDKL5	NM_003159.2(CDKL5):c.-426C>G	noncoding	Benign
X	18425467	G	T	G18425467T	CDKL5	NM_003159.2(CDKL5):c.-391G>T	noncoding	Benign
X	18425593	C	G	C18425593G	CDKL5	NM_003159.2(CDKL5):c.-265C>G	noncoding	Benign
X	18506933	A	G	A18506933G	CDKL5	NM_001323289.2(CDKL5):c.-162-2A>G	noncoding	Pathogenic
X	18507161	G	C	G18507161C	CDKL5	NM_001323289.2(CDKL5):c.64+1G>C	coding	Pathogenic
X	18507186	G	A	G18507186A	CDKL5	NM_001323289.2(CDKL5):c.64+26G>A	noncoding	Benign
X	18510819	G	A	G18510819A	CDKL5	NM_001323289.2(CDKL5):c.65-1G>A	noncoding	Pathogenic
X	18510828	G	A	G18510828A	CDKL5	NM_001323289.2(CDKL5):c.73G>A:p.Gly25Arg	coding	Pathogenic
X	18510846	A	G	A18510846G	CDKL5	NM_001323289.2(CDKL5):c.91A>G:p.Arg31Gly	coding	Pathogenic
X	18510859	G	A	G18510859A	CDKL5	NM_001323289.2(CDKL5):c.99+5G>A	noncoding	Pathogenic
X	18510888	A	G	A18510888G	CDKL5	NM_001323289.2(CDKL5):c.99+34A>G	noncoding	Benign
X	18564475	A	G	A18564475G	CDKL5	NM_001323289.2(CDKL5):c.100-2A>G	noncoding	Pathogenic
X	18564496	C	T	C18564496T	CDKL5	NM_001323289.2(CDKL5):c.119C>T:p.Ala40Val	coding	Pathogenic
X	18564502	A	G	A18564502G	CDKL5	NM_001323289.2(CDKL5):c.125A>G:p.Lys42Arg	coding	Pathogenic
X	18564524	T	C	T18564524C	CDKL5	NM_001323289.2(CDKL5):c.145+2T>C	noncoding	Pathogenic
X	18564539	A	G	A18564539G	CDKL5	NM_001323289.2(CDKL5):c.145+17A>G	noncoding	Benign
X	18575353	G	A	G18575353A	CDKL5	NM_001323289.2(CDKL5):c.146-1G>A	noncoding	Pathogenic
X	18575362	G	T	G18575362T	CDKL5	NM_001323289.2(CDKL5):c.154G>T:p.Glu52Ter	coding	Pathogenic
X	18575381	T	A	T18575381A	CDKL5	NM_001323289.2(CDKL5):c.173T>A:p.Leu58Ter	coding	Pathogenic
X	18575383	C	T	C18575383T	CDKL5	NM_001323289.2(CDKL5):c.175C>T:p.Arg59Ter	coding	Pathogenic
X	18575388	G	A	G18575388A	CDKL5	NM_001323289.2(CDKL5):c.180G>A:p.Glu60=	coding	Benign
X	18575402	G	A	G18575402A	CDKL5	NM_001323289.2(CDKL5):c.194G>A:p.Arg65Gln	coding	Benign
X	18575407	C	T	C18575407T	CDKL5	NM_001323289.2(CDKL5):c.199C>T:p.Leu67Phe	coding	Pathogenic
X	18575419	A	G	A18575419G	CDKL5	NM_001323289.2(CDKL5):c.211A>G:p.Asn71Asp	coding	Pathogenic
X	18575423	T	A	T18575423A	CDKL5	NM_001323289.2(CDKL5):c.215T>A:p.Ile72Asn	coding	Pathogenic
X	18575423	T	C	T18575423C	CDKL5	NM_001323289.2(CDKL5):c.215T>C:p.Ile72Thr	coding	Pathogenic
X	18575424	T	A	T18575424A	CDKL5	NM_001323289.2(CDKL5):c.216T>A:p.Ile72=	coding	Benign
X	18575428	G	T	G18575428T	CDKL5	NM_001323289.2(CDKL5):c.220G>T:p.Glu74Ter	coding	Pathogenic
X	18575458	A	T	A18575458T	CDKL5	NM_001323289.2(CDKL5):c.250A>T:p.Lys84Ter	coding	Pathogenic
X	18575466	C	G	C18575466G	CDKL5	NM_001323289.2(CDKL5):c.258C>G:p.Tyr86Ter	coding	Pathogenic
X	18575491	G	A	G18575491A	CDKL5	NM_001323289.2(CDKL5):c.282+1G>A	coding	Pathogenic
X	18575491	G	T	G18575491T	CDKL5	NM_001323289.2(CDKL5):c.282+1G>T	coding	Pathogenic
X	18575492	T	G	T18575492G	CDKL5	NM_001323289.2(CDKL5):c.282+2T>G	noncoding	Pathogenic
X	18579749	C	A	C18579749A	CDKL5	NM_001323289.2(CDKL5):c.283-99C>A	noncoding	Benign
X	18579836	T	C	T18579836C	CDKL5	NM_001323289.2(CDKL5):c.283-12T>C	noncoding	Benign
X	18579898	A	G	A18579898G	CDKL5	NM_001323289.2(CDKL5):c.333A>G:p.Lys111=	coding	Benign
X	18579916	T	A	T18579916A	CDKL5	NM_001323289.2(CDKL5):c.351T>A:p.Tyr117Ter	coding	Pathogenic
X	18579917	C	T	C18579917T	CDKL5	NM_001323289.2(CDKL5):c.352C>T:p.Gln118Ter	coding	Pathogenic
X	18579918	A	G	A18579918G	CDKL5	NM_001323289.2(CDKL5):c.353A>G:p.Gln118Arg	coding	Pathogenic
X	18579921	T	G	T18579921G	CDKL5	NM_001323289.2(CDKL5):c.356T>G:p.Leu119Arg	coding	Pathogenic
X	18579929	G	A	G18579929A	CDKL5	NM_001323289.2(CDKL5):c.364G>A:p.Ala122Thr	coding	Pathogenic
X	18579965	C	T	C18579965T	CDKL5	NM_001323289.2(CDKL5):c.400C>T:p.Arg134Ter	coding	Pathogenic
X	18579969	G	A	G18579969A	CDKL5	NM_001323289.2(CDKL5):c.403+1G>A	coding	Pathogenic
X	18581838	T	C	T18581838C	CDKL5	NM_001323289.2(CDKL5):c.404-53T>C	noncoding	Benign
X	18581889	A	G	A18581889G	CDKL5	NM_001323289.2(CDKL5):c.404-2A>G	noncoding	Pathogenic
X	18581890	G	A	G18581890A	CDKL5	NM_001323289.2(CDKL5):c.404-1G>A	noncoding	Pathogenic
X	18581890	G	T	G18581890T	CDKL5	NM_001323289.2(CDKL5):c.404-1G>T	noncoding	Pathogenic
X	18581892	T	C	T18581892C	CDKL5	NM_001323289.2(CDKL5):c.405T>C:p.Asp135=	coding	Benign
X	18581900	C	T	C18581900T	CDKL5	NM_001323289.2(CDKL5):c.413C>T:p.Pro138Leu	coding	Pathogenic
X	18581906	A	G	A18581906G	CDKL5	NM_001323289.2(CDKL5):c.419A>G:p.Asn140Ser	coding	Pathogenic
X	18581912	T	A	T18581912A	CDKL5	NM_001323289.2(CDKL5):c.425T>A:p.Leu142Ter	coding	Pathogenic
X	18581912	T	G	T18581912G	CDKL5	NM_001323289.2(CDKL5):c.425T>G:p.Leu142Ter	coding	Pathogenic
X	18581936	A	G	A18581936G	CDKL5	NM_001323289.2(CDKL5):c.449A>G:p.Lys150Arg	coding	Pathogenic
X	18581942	G	T	G18581942T	CDKL5	NM_001323289.2(CDKL5):c.455G>T:p.Cys152Phe	coding	Pathogenic
X	18581945	A	G	A18581945G	CDKL5	NM_001323289.2(CDKL5):c.458A>G:p.Asp153Gly	coding	Pathogenic
X	18581951	G	A	G18581951A	CDKL5	NM_001323289.2(CDKL5):c.463+1G>A	coding	Pathogenic
X	18581951	G	T	G18581951T	CDKL5	NM_001323289.2(CDKL5):c.463+1G>T	coding	Pathogenic
X	18581955	G	A	G18581955A	CDKL5	NM_001323289.2(CDKL5):c.463+5G>A	noncoding	Pathogenic
X	18581972	T	C	T18581972C	CDKL5	NM_001323289.2(CDKL5):c.463+22T>C	noncoding	Benign
X	18584254	A	G	A18584254G	CDKL5	NM_001323289.2(CDKL5):c.464-9A>G	noncoding	Benign
X	18584261	A	G	A18584261G	CDKL5	NM_001323289.2(CDKL5):c.464-2A>G	noncoding	Pathogenic
X	18584262	G	A	G18584262A	CDKL5	NM_001323289.2(CDKL5):c.464-1G>A	noncoding	Pathogenic
X	18584307	G	T	G18584307T	CDKL5	NM_001323289.2(CDKL5):c.508G>T:p.Glu170Ter	coding	Pathogenic
X	18584312	C	A	C18584312A	CDKL5	NM_001323289.2(CDKL5):c.513C>A:p.Tyr171Ter	coding	Pathogenic
X	18584313	G	A	G18584313A	CDKL5	NM_001323289.2(CDKL5):c.514G>A:p.Val172Ile	coding	Pathogenic
X	18584322	A	G	A18584322G	CDKL5	NM_001323289.2(CDKL5):c.523A>G:p.Arg175Gly	coding	Pathogenic
X	18584324	A	T	A18584324T	CDKL5	NM_001323289.2(CDKL5):c.525A>T:p.Arg175Ser	coding	Pathogenic
X	18584325	T	G	T18584325G	CDKL5	NM_001323289.2(CDKL5):c.526T>G:p.Trp176Gly	coding	Pathogenic
X	18584327	G	T	G18584327T	CDKL5	NM_001323289.2(CDKL5):c.528G>T:p.Trp176Cys	coding	Pathogenic
X	18584331	C	T	C18584331T	CDKL5	NM_001323289.2(CDKL5):c.532C>T:p.Arg178Trp	coding	Pathogenic
X	18584332	G	A	G18584332A	CDKL5	NM_001323289.2(CDKL5):c.533G>A:p.Arg178Gln	coding	Pathogenic/Likely_pathogenic
X	18584332	G	C	G18584332C	CDKL5	NM_001323289.2(CDKL5):c.533G>C:p.Arg178Pro	coding	Pathogenic
X	18584338	C	T	C18584338T	CDKL5	NM_001323289.2(CDKL5):c.539C>T:p.Pro180Leu	coding	Pathogenic
X	18584341	A	C	A18584341C	CDKL5	NM_001323289.2(CDKL5):c.542A>C:p.Glu181Ala	coding	Pathogenic
X	18584354	G	A	G18584354A	CDKL5	NM_001323289.2(CDKL5):c.554+1G>A	coding	Pathogenic/Likely_pathogenic
X	18584364	G	A	G18584364A	CDKL5	NM_001323289.2(CDKL5):c.554+11G>A	noncoding	Benign
X	18587935	C	G	C18587935G	CDKL5	NM_001323289.2(CDKL5):c.555-19C>G	noncoding	Benign
X	18587952	A	G	A18587952G	CDKL5	NM_001323289.2(CDKL5):c.555-2A>G	noncoding	Pathogenic
X	18587972	C	G	C18587972G	CDKL5	NM_001323289.2(CDKL5):c.573C>G:p.Ser191=	coding	Benign
X	18587976	G	A	G18587976A	CDKL5	NM_001323289.2(CDKL5):c.577G>A:p.Asp193Asn	coding	Pathogenic
X	18587977	A	G	A18587977G	CDKL5	NM_001323289.2(CDKL5):c.578A>G:p.Asp193Gly	coding	Pathogenic
X	18587982	T	G	T18587982G	CDKL5	NM_001323289.2(CDKL5):c.583T>G:p.Trp195Gly	coding	Pathogenic
X	18587986	C	T	C18587986T	CDKL5	NM_001323289.2(CDKL5):c.587C>T:p.Ser196Leu	coding	Pathogenic/Likely_pathogenic
X	18588006	G	T	G18588006T	CDKL5	NM_001323289.2(CDKL5):c.607G>T:p.Glu203Ter	coding	Pathogenic
X	18588021	C	T	C18588021T	CDKL5	NM_001323289.2(CDKL5):c.622C>T:p.Gln208Ter	coding	Pathogenic
X	18588037	G	A	G18588037A	CDKL5	NM_001323289.2(CDKL5):c.638G>A:p.Gly213Glu	coding	Pathogenic
X	18588058	T	C	T18588058C	CDKL5	NM_001323289.2(CDKL5):c.659T>C:p.Leu220Pro	coding	Pathogenic
X	18588069	C	T	C18588069T	CDKL5	NM_001323289.2(CDKL5):c.670C>T:p.Gln224Ter	coding	Pathogenic
X	18588096	G	T	G18588096T	CDKL5	NM_001323289.2(CDKL5):c.697G>T:p.Glu233Ter	coding	Pathogenic
X	18588099	C	T	C18588099T	CDKL5	NM_001323289.2(CDKL5):c.700C>T:p.Gln234Ter	coding	Pathogenic
X	18588144	G	A	G18588144A	CDKL5	NM_001323289.2(CDKL5):c.744+1G>A	coding	Pathogenic
X	18595369	C	T	C18595369T	CDKL5	NM_001323289.2(CDKL5):c.766C>T:p.Gln256Ter	coding	Pathogenic
X	18595389	C	A	C18595389A	CDKL5	NM_001323289.2(CDKL5):c.786C>A:p.Tyr262Ter	coding	Pathogenic
X	18598461	G	C	G18598461C	CDKL5	NM_001323289.2(CDKL5):c.826-1G>C	noncoding	Pathogenic
X	18598490	G	A	G18598490A	CDKL5	NM_001323289.2(CDKL5):c.854G>A:p.Arg285Lys	coding	Pathogenic/Likely_pathogenic
X	18598494	C	A	C18598494A	CDKL5	NM_001323289.2(CDKL5):c.858C>A:p.Tyr286Ter	coding	Pathogenic
X	18598499	C	T	C18598499T	CDKL5	NM_001323289.2(CDKL5):c.863C>T:p.Thr288Ile	coding	Pathogenic
X	18598504	C	T	C18598504T	CDKL5	NM_001323289.2(CDKL5):c.868C>T:p.Gln290Ter	coding	Pathogenic
X	18598522	A	G	A18598522G	CDKL5	NM_001323289.2(CDKL5):c.886A>G:p.Thr296Ala	coding	Benign/Likely_benign
X	18598586	A	G	A18598586G	CDKL5	NM_001323289.2(CDKL5):c.950A>G:p.His317Arg	coding	Benign/Likely_benign
X	18603879	T	C	T18603879C	CDKL5	NM_001323289.2(CDKL5):c.978-23T>C	noncoding	Benign
X	18603900	A	G	A18603900G	CDKL5	NM_001323289.2(CDKL5):c.978-2A>G	noncoding	Pathogenic
X	18603930	C	T	C18603930T	CDKL5	NM_001323289.2(CDKL5):c.1006C>T:p.Gln336Ter	coding	Pathogenic
X	18603963	C	T	C18603963T	CDKL5	NM_001323289.2(CDKL5):c.1039C>T:p.Gln347Ter	coding	Pathogenic
X	18604014	G	T	G18604014T	CDKL5	NM_001323289.2(CDKL5):c.1090G>T:p.Glu364Ter	coding	Pathogenic
X	18604023	C	T	C18604023T	CDKL5	NM_001323289.2(CDKL5):c.1099C>T:p.Leu367=	coding	Pathogenic
X	18604076	C	G	C18604076G	CDKL5	NM_001323289.2(CDKL5):c.1152C>G:p.Tyr384Ter	coding	Pathogenic
X	18604089	C	T	C18604089T	CDKL5	NM_001323289.2(CDKL5):c.1165C>T:p.Gln389Ter	coding	Pathogenic
X	18604162	C	G	C18604162G	CDKL5	NM_001323289.2(CDKL5):c.1238C>G:p.Ser413Ter	coding	Pathogenic
X	18604170	G	T	G18604170T	CDKL5	NM_001323289.2(CDKL5):c.1246G>T:p.Glu416Ter	coding	Pathogenic
X	18604202	A	C	A18604202C	CDKL5	NM_001323289.2(CDKL5):c.1278A>C:p.Ser426=	coding	Benign/Likely_benign
X	18604248	C	T	C18604248T	CDKL5	NM_001323289.2(CDKL5):c.1324C>T:p.Gln442Ter	coding	Pathogenic
X	18604254	C	T	C18604254T	CDKL5	NM_001323289.2(CDKL5):c.1330C>T:p.Arg444Cys	coding	Benign/Likely_benign
X	18604256	C	T	C18604256T	CDKL5	NM_001323289.2(CDKL5):c.1332C>T:p.Arg444=	coding	Benign/Likely_benign
X	18604262	A	T	A18604262T	CDKL5	NM_001323289.2(CDKL5):c.1338A>T:p.Ser446=	coding	Benign/Likely_benign
X	18604269	G	T	G18604269T	CDKL5	NM_001323289.2(CDKL5):c.1345G>T:p.Glu449Ter	coding	Pathogenic
X	18604278	C	T	C18604278T	CDKL5	NM_001323289.2(CDKL5):c.1354C>T:p.Gln452Ter	coding	Pathogenic
X	18604299	C	T	C18604299T	CDKL5	NM_001323289.2(CDKL5):c.1375C>T:p.Gln459Ter	coding	Pathogenic
X	18604324	A	G	A18604324G	CDKL5	NM_001323289.2(CDKL5):c.1400A>G:p.His467Arg	coding	Benign
X	18604355	T	C	T18604355C	CDKL5	NM_001323289.2(CDKL5):c.1431T>C:p.Ser477=	coding	Benign/Likely_benign
X	18604410	A	T	A18604410T	CDKL5	NM_001323289.2(CDKL5):c.1486A>T:p.Lys496Ter	coding	Pathogenic
X	18604443	C	T	C18604443T	CDKL5	NM_001323289.2(CDKL5):c.1519C>T:p.Gln507Ter	coding	Pathogenic
X	18604447	T	C	T18604447C	CDKL5	NM_001323289.2(CDKL5):c.1523T>C:p.Ile508Thr	coding	Benign
X	18604451	G	A	G18604451A	CDKL5	NM_001323289.2(CDKL5):c.1527G>A:p.Ala509=	coding	Benign/Likely_benign
X	18604572	C	T	C18604572T	CDKL5	NM_001323289.2(CDKL5):c.1648C>T:p.Arg550Ter	coding	Pathogenic
X	18604594	C	G	C18604594G	CDKL5	NM_001323289.2(CDKL5):c.1670C>G:p.Ser557Ter	coding	Pathogenic
X	18604599	C	T	C18604599T	CDKL5	NM_001323289.2(CDKL5):c.1675C>T:p.Arg559Ter	coding	Pathogenic/Likely_pathogenic
X	18604632	G	T	G18604632T	CDKL5	NM_001323289.2(CDKL5):c.1708G>T:p.Glu570Ter	coding	Pathogenic
X	18604645	C	T	C18604645T	CDKL5	NM_001323289.2(CDKL5):c.1721C>T:p.Pro574Leu	coding	Benign/Likely_benign
X	18604691	C	T	C18604691T	CDKL5	NM_001323289.2(CDKL5):c.1767C>T:p.His589=	coding	Benign
X	18604721	C	G	C18604721G	CDKL5	NM_001323289.2(CDKL5):c.1797C>G:p.Thr599=	coding	Benign
X	18604737	C	T	C18604737T	CDKL5	NM_001323289.2(CDKL5):c.1813C>T:p.Gln605Ter	coding	Pathogenic
X	18604740	C	T	C18604740T	CDKL5	NM_001323289.2(CDKL5):c.1816C>T:p.Gln606Ter	coding	Pathogenic
X	18604821	C	T	C18604821T	CDKL5	NM_001323289.2(CDKL5):c.1897C>T:p.Gln633Ter	coding	Pathogenic
X	18604870	T	G	T18604870G	CDKL5	NM_001323289.2(CDKL5):c.1944+2T>G	noncoding	Pathogenic
X	18608820	C	T	C18608820T	CDKL5	NM_001323289.2(CDKL5):c.1954C>T:p.Gln652Ter	coding	Pathogenic
X	18608991	G	A	G18608991A	CDKL5	NM_001323289.2(CDKL5):c.2046+79G>A	noncoding	Benign
X	18609464	G	A	G18609464A	CDKL5	NM_001323289.2(CDKL5):c.2047-1G>A	noncoding	Pathogenic
X	18609513	G	T	G18609513T	CDKL5	NM_001323289.2(CDKL5):c.2095G>T:p.Glu699Ter	coding	Pathogenic
X	18609570	G	A	G18609570A	CDKL5	NM_001323289.2(CDKL5):c.2152G>A:p.Val718Met	coding	Pathogenic
X	18609571	G	A	G18609571A	CDKL5	NM_001323289.2(CDKL5):c.2152+1G>A	coding	Pathogenic
X	18613276	G	A	G18613276A	CDKL5	NM_001323289.2(CDKL5):c.2276+1G>A	coding	Pathogenic
X	18619865	A	G	A18619865G	CDKL5	NM_001323289.2(CDKL5):c.2277-2A>G	noncoding	Pathogenic
X	18619895	G	T	G18619895T	CDKL5	NM_001323289.2(CDKL5):c.2305G>T:p.Glu769Ter	coding	Pathogenic
X	18619898	C	A	C18619898A	CDKL5	NM_001323289.2(CDKL5):c.2308C>A:p.Gln770Lys	coding	Benign
X	18619935	C	A	C18619935A	CDKL5	NM_001323289.2(CDKL5):c.2345C>A:p.Ser782Ter	coding	Pathogenic
X	18619935	C	G	C18619935G	CDKL5	NM_001323289.2(CDKL5):c.2345C>G:p.Ser782Ter	coding	Pathogenic
X	18619962	A	C	A18619962C	CDKL5	NM_001323289.2(CDKL5):c.2372A>C:p.Gln791Pro	coding	Benign
X	18619967	G	A	G18619967A	CDKL5	NM_001323289.2(CDKL5):c.2376+1G>A	coding	Pathogenic
X	18619967	G	C	G18619967C	CDKL5	NM_001323289.2(CDKL5):c.2376+1G>C	coding	Pathogenic
X	18620084	T	A	T18620084A	CDKL5	NM_001323289.2(CDKL5):c.2376+118T>A	noncoding	Benign
X	18625097	T	C	T18625097C	CDKL5	NM_001323289.2(CDKL5):c.2377-31T>C	noncoding	Benign
X	18625140	G	A	G18625140A	CDKL5	NM_001323289.2(CDKL5):c.2389G>A:p.Asp797Asn	coding	Benign/Likely_benign
X	18625160	G	A	G18625160A	CDKL5	NM_001323289.2(CDKL5):c.2409G>A:p.Thr803=	coding	Benign
X	18625164	C	T	C18625164T	CDKL5	NM_001323289.2(CDKL5):c.2413C>T:p.Gln805Ter	coding	Pathogenic/Likely_pathogenic
X	18625196	C	T	C18625196T	CDKL5	NM_001323289.2(CDKL5):c.2445C>T:p.Ser815=	coding	Benign/Likely_benign
X	18625217	C	G	C18625217G	CDKL5	NM_001323289.2(CDKL5):c.2466C>G:p.Arg822=	coding	Benign/Likely_benign
X	18625231	C	G	C18625231G	CDKL5	NM_001323289.2(CDKL5):c.2480C>G:p.Ser827Ter	coding	Pathogenic
X	18625245	C	T	C18625245T	CDKL5	NM_001323289.2(CDKL5):c.2494C>T:p.Gln832Ter	coding	Pathogenic
X	18628374	C	T	C18628374T	CDKL5	NM_001323289.2(CDKL5):c.2500C>T:p.Gln834Ter	coding	Pathogenic
X	18628415	G	A	G18628415A	CDKL5	NM_001323289.2(CDKL5):c.2541G>A:p.Ser847=	coding	Benign/Likely_benign
X	18628452	C	T	C18628452T	CDKL5	NM_001323289.2(CDKL5):c.2578C>T:p.Gln860Ter	coding	Pathogenic
X	18628467	C	T	C18628467T	CDKL5	NM_001323289.2(CDKL5):c.2593C>T:p.Gln865Ter	coding	Pathogenic
X	18628470	C	T	C18628470T	CDKL5	NM_001323289.2(CDKL5):c.2596C>T:p.Gln866Ter	coding	Pathogenic
X	18628515	C	T	C18628515T	CDKL5	NM_001323289.2(CDKL5):c.2641C>T:p.Gln881Ter	coding	Pathogenic
X	18628526	C	T	C18628526T	CDKL5	NM_001323289.2(CDKL5):c.2652C>T:p.Gly884=	coding	Benign
X	18628545	C	T	C18628545T	CDKL5	NM_001323289.2(CDKL5):c.2671C>T:p.Gln891Ter	coding	Pathogenic
X	18628578	C	T	C18628578T	CDKL5	NM_001323289.2(CDKL5):c.2704C>T:p.Gln902Ter	coding	Pathogenic
X	18628590	C	T	C18628590T	CDKL5	NM_001323289.2(CDKL5):c.2716C>T:p.Gln906Ter	noncoding	Pathogenic
X	18628659	C	T	C18628659T	CDKL5	NM_001323289.2(CDKL5):c.2785C>T:p.Gln929Ter	noncoding	Pathogenic
X	18642011	C	T	C18642011T	RS1	NM_000330.3(RS1):c.668G>A:p.Cys223Tyr	coding	Pathogenic
X	18642012	A	G	A18642012G	RS1	NM_003159.2(CDKL5):c.2714-3995A>G	coding	Pathogenic
X	18642032	A	G	A18642032G	RS1	NM_000330.3(RS1):c.647T>C:p.Leu216Pro	coding	Pathogenic
X	18642042	G	A	G18642042A	RS1	NM_000330.3(RS1):c.637C>T:p.Arg213Trp	coding	Pathogenic
X	18642047	G	A	G18642047A	RS1	NM_000330.4(RS1):c.632C>T:p.Ala211Val	coding	Pathogenic
X	18642053	C	T	C18642053T	RS1	NM_000330.3(RS1):c.626G>A:p.Arg209His	coding	Pathogenic
X	18642054	G	A	G18642054A	RS1;CDKL5	NM_000330.3(RS1):c.625C>T:p.Arg209Cys	coding	Pathogenic/Likely_pathogenic
X	18642071	G	A	G18642071A	RS1	NM_000330.3(RS1):c.608C>T:p.Pro203Leu	coding	Pathogenic
X	18642080	C	T	C18642080T	RS1	NM_000330.3(RS1):c.599G>A:p.Arg200His	coding	Pathogenic
X	18642081	G	A	G18642081A	RS1	NM_000330.3(RS1):c.598C>T:p.Arg200Cys	coding	Pathogenic
X	18642083	A	G	A18642083G	RS1	NM_000330.3(RS1):c.596T>C:p.Ile199Thr	coding	Pathogenic
X	18642089	C	T	C18642089T	RS1;CDKL5	NM_000330.3(RS1):c.590G>A:p.Arg197His	coding	Pathogenic/Likely_pathogenic
X	18642090	G	A	G18642090A	RS1	NM_000330.3(RS1):c.589C>T:p.Arg197Cys	coding	Pathogenic
X	18642101	G	A	G18642101A	RS1	NM_000330.3(RS1):c.578C>T:p.Pro193Leu	coding	Pathogenic
X	18642103	G	A	G18642103A	RS1	NM_000330.3(RS1):c.576C>T:p.Pro192=	coding	Benign/Likely_benign
X	18642104	G	A	G18642104A	RS1	NM_000330.4(RS1):c.575C>T:p.Pro192Leu	coding	Pathogenic
X	18642105	G	A	G18642105A	RS1	NM_000330.3(RS1):c.574C>T:p.Pro192Ser	coding	Pathogenic
X	18642131	G	A	G18642131A	RS1	NM_000330.4(RS1):c.548C>T:p.Thr183Ile	coding	Benign
X	18642158	T	C	T18642158C	RS1	NM_000330.3(RS1):c.523-2A>G	noncoding	Pathogenic
X	18642166	T	G	T18642166G	RS1	NM_000330.4(RS1):c.523-10A>C	noncoding	Benign
X	18644429	C	T	C18644429T	RS1	NM_000330.3(RS1):c.522+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	18644530	C	T	C18644530T	RS1	NM_000330.3(RS1):c.422G>A:p.Arg141His	coding	Pathogenic/Likely_pathogenic
X	18644531	G	A	G18644531A	RS1	NM_000330.3(RS1):c.421C>T:p.Arg141Cys	coding	Pathogenic
X	18644534	C	T	C18644534T	RS1	NM_000330.3(RS1):c.418G>A:p.Gly140Arg	coding	Pathogenic
X	18644586	C	T	C18644586T	RS1	NM_000330.3(RS1):c.366G>A:p.Trp122Ter	coding	Pathogenic/Likely_pathogenic
X	18644622	A	G	A18644622G	RS1	NM_000330.3(RS1):c.330T>C:p.Cys110=	coding	Benign
X	18644622	A	T	A18644622T	RS1	NM_000330.3(RS1):c.330T>A:p.Cys110Ter	coding	Pathogenic
X	18644623	C	T	C18644623T	RS1	NM_000330.3(RS1):c.329G>A:p.Cys110Tyr	coding	Pathogenic
X	18646109	A	G	A18646109G	CDKL5	NM_003159.2(CDKL5):c.2797+19A>G	noncoding	Benign
X	18647192	C	G	C18647192G	RS1	NM_000330.3(RS1):c.325G>C:p.Gly109Arg	coding	Pathogenic
X	18647192	C	T	C18647192T	RS1	NM_000330.4(RS1):c.325G>A:p.Gly109Arg	coding	Pathogenic
X	18647201	G	A	G18647201A	RS1	NM_000330.4(RS1):c.316C>T:p.Gln106Ter	coding	Pathogenic/Likely_pathogenic
X	18647212	C	T	C18647212T	RS1	NM_000330.3(RS1):c.305G>A:p.Arg102Gln	coding	Pathogenic
X	18647213	G	A	G18647213A	RS1	NM_000330.3(RS1):c.304C>T:p.Arg102Trp	coding	Pathogenic
X	18647222	T	C	T18647222C	RS1	NM_000330.4(RS1):c.295A>G:p.Asn99Asp	coding	Benign
X	18647229	C	T	C18647229T	RS1	NM_000330.3(RS1):c.288G>A:p.Trp96Ter	coding	Pathogenic
X	18647231	A	G	A18647231G	RS1	NM_000330.3(RS1):c.286T>C:p.Trp96Arg	coding	Pathogenic
X	18647232	C	T	C18647232T	RS1	NM_000330.4(RS1):c.285G>A:p.Ser95=	coding	Benign
X	18647238	A	T	A18647238T	RS1	NM_000330.3(RS1):c.279T>A:p.Tyr93Ter	coding	Pathogenic
X	18647241	C	G	C18647241G	RS1	NM_000330.3(RS1):c.276G>C:p.Trp92Cys	coding	Pathogenic
X	18647253	C	G	C18647253G	RS1	NM_000330.4(RS1):c.264G>C:p.Gln88His	coding	Benign
X	18647259	C	T	C18647259T	RS1	NM_000330.4(RS1):c.258G>A:p.Pro86=	coding	Benign
X	18647296	C	A	C18647296A	RS1	NM_000330.3(RS1):c.221G>T:p.Gly74Val	coding	Pathogenic
X	18647299	G	C	G18647299C	RS1	NM_000330.4(RS1):c.218C>G:p.Ser73Ter	coding	Pathogenic
X	18647299	G	T	G18647299T	RS1	NM_000330.4(RS1):c.218C>A:p.Ser73Ter	coding	Pathogenic
X	18647301	C	G	C18647301G	RS1	NM_000330.3(RS1):c.216G>C:p.Glu72Asp	coding	Pathogenic
X	18647303	C	T	C18647303T	RS1;CDKL5	NM_000330.3(RS1):c.214G>A:p.Glu72Lys	coding	Pathogenic/Likely_pathogenic
X	18647309	C	T	C18647309T	RS1	NM_000330.3(RS1):c.208G>A:p.Gly70Ser	coding	Pathogenic
X	18647333	C	G	C18647333G	RS1	NM_000330.3(RS1):c.185-1G>C	coding	Pathogenic
X	18650466	C	T	C18650466T	CDKL5	NM_003159.2(CDKL5):c.2854C>T:p.Arg952Ter	coding	Benign/Likely_benign
X	18650479	G	A	G18650479A	CDKL5	NM_003159.2(CDKL5):c.2867G>A:p.Arg956His	coding	Benign/Likely_benign
X	18650508	G	A	G18650508A	CDKL5	NM_003159.2(CDKL5):c.2896G>A:p.Val966Ile	coding	Benign/Likely_benign
X	18650521	G	A	G18650521A	CDKL5	NM_003159.2(CDKL5):c.2909G>A:p.Arg970Gln	coding	Benign/Likely_benign
X	18650539	C	T	C18650539T	CDKL5	NM_003159.2(CDKL5):c.2927C>T:p.Pro976Leu	coding	Benign/Likely_benign
X	18653169	G	T	G18653169T	CDKL5	NM_003159.2(CDKL5):c.2981-263G>T	noncoding	Benign
X	18653445	C	T	C18653445T	CDKL5	NM_003159.2(CDKL5):c.2994C>T:p.Phe998=	coding	Benign
X	18653446	G	A	G18653446A	CDKL5	NM_003159.2(CDKL5):c.2995G>A:p.Val999Met	coding	Benign
X	18656644	G	A	G18656644A	RS1	NM_000330.4(RS1):c.184+9C>T	noncoding	Benign
X	18656651	A	C	A18656651C	RS1	NM_000330.3(RS1):c.184+2T>G	noncoding	Pathogenic
X	18656749	C	T	C18656749T	RS1	NM_000330.4(RS1):c.88G>A:p.Glu30Lys	coding	Benign
X	18657642	C	T	C18657642T	RS1	NM_000330.4(RS1):c.76G>A:p.Glu26Lys	coding	Benign
X	18672031	A	G	A18672031G	RS1	NM_000330.3(RS1):c.38T>C:p.Leu13Pro	coding	Pathogenic
X	18672062	G	C	G18672062C	RS1	NM_000330.4(RS1):c.7C>G:p.Arg3Gly	coding	Benign
X	18672066	C	T	C18672066T	RS1	NM_000330.4(RS1):c.3G>A:p.Met1Ile	coding	Pathogenic
X	18672068	T	A	T18672068A	RS1	NM_000330.3(RS1):c.1A>T:p.Met1Leu	coding	Pathogenic
X	18779018	C	T	C18779018T	PPEF1	NM_006240.3(PPEF1):c.567C>T:p.Leu189=	coding	Benign
X	18784036	A	G	A18784036G	PPEF1	NM_006240.3(PPEF1):c.900A>G:p.Val300=	coding	Benign
X	18893488	T	C	T18893488C	PHKA2	NM_000292.3(PHKA2):c.3705A>G:p.Gln1235=	coding	Benign
X	18893579	G	A	G18893579A	PHKA2	NM_000292.3(PHKA2):c.3614C>T:p.Pro1205Leu	coding	Pathogenic
X	18894344	G	A	G18894344A	PHKA2	NM_000292.3(PHKA2):c.3397C>T:p.Gln1133Ter	coding	Pathogenic
X	18894364	G	T	G18894364T	PHKA2	NM_000292.3(PHKA2):c.3377C>A:p.Ser1126Ter	coding	Pathogenic
X	18895143	G	A	G18895143A	PHKA2	NM_000292.3(PHKA2):c.3331C>T:p.Arg1111Ter	coding	Pathogenic
X	18897150	C	T	C18897150T	PHKA2	NM_000292.3(PHKA2):c.3282+13G>A	noncoding	Benign
X	18897202	G	A	G18897202A	PHKA2	NM_000292.3(PHKA2):c.3243C>T:p.Pro1081=	coding	Benign/Likely_benign
X	18897258	G	T	G18897258T	PHKA2	NM_000292.3(PHKA2):c.3187C>A:p.Arg1063=	coding	Benign
X	18897299	G	T	G18897299T	PHKA2	NM_000292.3(PHKA2):c.3146C>A:p.Ser1049Ter	coding	Pathogenic
X	18899215	C	T	C18899215T	PHKA2	NM_000292.3(PHKA2):c.3069G>A:p.Val1023=	coding	Benign
X	18901487	G	A	G18901487A	PHKA2	NM_000292.3(PHKA2):c.3025C>T:p.Gln1009Ter	coding	Pathogenic
X	18901556	C	T	C18901556T	PHKA2	NM_000292.3(PHKA2):c.2956G>A:p.Glu986Lys	coding	Benign
X	18901561	A	G	A18901561G	PHKA2	NM_000292.3(PHKA2):c.2951T>C:p.Ile984Thr	coding	Benign
X	18906482	G	T	G18906482T	PHKA2	NM_000292.3(PHKA2):c.2806+13C>A	noncoding	Benign
X	18906555	G	A	G18906555A	PHKA2	NM_000292.3(PHKA2):c.2746C>T:p.Arg916Trp	coding	Pathogenic/Likely_pathogenic
X	18907083	C	T	C18907083T	PHKA2	NM_000292.3(PHKA2):c.2532G>A:p.Leu844=	coding	Benign
X	18907981	C	T	C18907981T	PHKA2	NM_000292.3(PHKA2):c.2436G>A:p.Gly812=	coding	Benign
X	18908068	T	G	T18908068G	PHKA2	NM_000292.3(PHKA2):c.2361-12A>C	noncoding	Benign
X	18908865	G	A	G18908865A	PHKA2	NM_000292.3(PHKA2):c.2296C>T:p.Gln766Ter	coding	Pathogenic
X	18910889	G	A	G18910889A	PHKA2	NM_000292.3(PHKA2):c.2209C>T:p.Gln737Ter	coding	Pathogenic
X	18910926	A	G	A18910926G	PHKA2	NM_000292.3(PHKA2):c.2172T>C:p.Ser724=	coding	Benign
X	18918741	T	C	T18918741C	PHKA2	NM_000292.3(PHKA2):c.2077A>G:p.Ile693Val	coding	Benign
X	18918861	T	C	T18918861C	PHKA2	NM_000292.3(PHKA2):c.1964-7A>G	noncoding	Benign/Likely_benign
X	18920043	G	T	G18920043T	PHKA2	NM_000292.3(PHKA2):c.1952C>A:p.Thr651Asn	coding	Benign
X	18920099	G	A	G18920099A	PHKA2	NM_000292.3(PHKA2):c.1896C>T:p.Ser632=	coding	Benign
X	18924425	G	C	G18924425C	PHKA2	NM_000292.3(PHKA2):c.1670C>G:p.Thr557Arg	coding	Benign
X	18924460	G	C	G18924460C	PHKA2	NM_000292.3(PHKA2):c.1635C>G:p.Ile545Met	coding	Benign/Likely_benign
X	18925691	G	A	G18925691A	PHKA2	NM_000292.3(PHKA2):c.1546C>T:p.Gln516Ter	coding	Pathogenic
X	18926514	C	T	C18926514T	PHKA2	NM_000292.3(PHKA2):c.1398G>A:p.Ala466=	coding	Benign/Likely_benign
X	18926516	C	T	C18926516T	PHKA2	NM_000292.3(PHKA2):c.1396G>A:p.Ala466Thr	coding	Benign/Likely_benign
X	18929306	C	T	C18929306T	PHKA2	NM_000292.3(PHKA2):c.1246G>A:p.Gly416Arg	coding	Benign
X	18931681	C	T	C18931681T	PHKA2	NM_000292.3(PHKA2):c.1205G>A:p.Trp402Ter	coding	Pathogenic
X	18931750	T	C	T18931750C	PHKA2	NM_000292.3(PHKA2):c.1138-2A>G	noncoding	Pathogenic
X	18936138	G	A	G18936138A	PHKA2	NM_000292.3(PHKA2):c.1054C>T:p.Arg352Ter	coding	Pathogenic
X	18938605	G	A	G18938605A	PHKA2	NM_000292.3(PHKA2):c.1041+22C>T	noncoding	Benign
X	18938705	G	A	G18938705A	PHKA2	NM_000292.3(PHKA2):c.963C>T:p.Phe321=	coding	Benign
X	18939994	C	T	C18939994T	PHKA2	NM_000292.3(PHKA2):c.918+1G>A	noncoding	Pathogenic
X	18940017	T	C	T18940017C	PHKA2	NM_000292.3(PHKA2):c.896A>G:p.Asp299Gly	coding	Pathogenic
X	18940029	C	T	C18940029T	PHKA2	NM_000292.3(PHKA2):c.884G>A:p.Arg295His	coding	Pathogenic/Likely_pathogenic
X	18941544	A	T	A18941544T	PHKA2	NM_000292.3(PHKA2):c.849T>A:p.Ile283=	coding	Benign
X	18941651	T	G	T18941651G	PHKA2	NM_000292.3(PHKA2):c.742A>C:p.Arg248=	coding	Benign/Likely_benign
X	18941677	T	C	T18941677C	PHKA2	NM_000292.3(PHKA2):c.718-2A>G	noncoding	Pathogenic
X	18941678	G	A	G18941678A	PHKA2	NM_000292.3(PHKA2):c.718-3C>T	noncoding	Benign
X	18943709	C	A	C18943709A	PHKA2	NM_000292.3(PHKA2):c.717+1G>T	noncoding	Pathogenic
X	18945131	T	C	T18945131C	PHKA2	NM_000292.3(PHKA2):c.565A>G:p.Lys189Glu	coding	Pathogenic
X	18948809	T	C	T18948809C	PHKA2	NM_000292.3(PHKA2):c.472A>G:p.Thr158Ala	coding	Benign/Likely_benign
X	18951158	G	A	G18951158A	PHKA2	NM_000292.3(PHKA2):c.400C>T:p.Gln134Ter	coding	Pathogenic
X	18951163	T	G	T18951163G	PHKA2	NM_000292.3(PHKA2):c.395A>C:p.His132Pro	coding	Pathogenic
X	18951164	G	A	G18951164A	PHKA2	NM_000292.3(PHKA2):c.394C>T:p.His132Tyr	coding	Pathogenic
X	18954256	G	A	G18954256A	PHKA2	NM_000292.3(PHKA2):c.235C>T:p.Gln79Ter	coding	Pathogenic
X	18954358	G	A	G18954358A	PHKA2	NM_000292.3(PHKA2):c.133C>T:p.Arg45Trp	coding	Pathogenic/Likely_pathogenic
X	18954379	C	G	C18954379G	PHKA2	NM_000292.3(PHKA2):c.112G>C:p.Glu38Gln	coding	Benign
X	18983956	G	A	G18983956A	PHKA2	NM_000292.3(PHKA2):c.-24C>T	noncoding	Benign
X	18999137	G	A	G18999137A	ADGRG2	NM_001079858.3(ADGRG2):c.2473C>T:p.Arg825Ter	coding	Pathogenic
X	18999879	T	C	T18999879C	ADGRG2	NM_001079858.3(ADGRG2):c.2312A>G:p.Asn771Ser	coding	Benign
X	19010603	G	A	G19010603A	ADGRG2	NM_001079858.3(ADGRG2):c.1265+10C>T	noncoding	Benign
X	19013915	G	T	G19013915T	ADGRG2	NM_001079858.3(ADGRG2):c.870C>A:p.His290Gln	coding	Benign
X	19019595	A	G	A19019595G	ADGRG2	NM_001079858.3(ADGRG2):c.710+4T>C	noncoding	Benign
X	19035953	G	C	G19035953C	ADGRG2	NM_001079858.3(ADGRG2):c.251C>G:p.Ser84Ter	coding	Pathogenic
X	19343843	G	A	G19343843A	PDHA1	NC_000023.11:g.19343843G>A	noncoding	Benign
X	19343940	C	T	C19343940T	PDHA1	NM_000284.4(PDHA1):c.-98C>T	noncoding	Benign
X	19343950	G	A	G19343950A	PDHA1	NM_000284.4(PDHA1):c.-88G>A	noncoding	Benign
X	19344066	G	C	G19344066C	PDHA1	NM_000284.4(PDHA1):c.29G>C:p.Arg10Pro	coding	Pathogenic
X	19349311	G	A	G19349311A	PDHA1	NM_000284.4(PDHA1):c.58-1G>A	noncoding	Pathogenic
X	19349351	G	C	G19349351C	PDHA1	NM_000284.4(PDHA1):c.97G>C:p.Asp33His	coding	Benign/Likely_benign
X	19350033	C	T	C19350033T	PDHA1	NM_000284.4(PDHA1):c.214C>T:p.Arg72Cys	coding	Pathogenic/Likely_pathogenic
X	19350044	G	T	G19350044T	PDHA1	NM_000284.4(PDHA1):c.225G>T:p.Glu75Asp	coding	Pathogenic
X	19350071	G	A	G19350071A	PDHA1	NM_000284.4(PDHA1):c.252G>A:p.Gln84=	coding	Benign/Likely_benign
X	19350122	G	A	G19350122A	PDHA1	NM_000284.4(PDHA1):c.291+12G>A	noncoding	Benign
X	19351258	A	G	A19351258G	PDHA1	NM_000284.4(PDHA1):c.292-23A>G	noncoding	Pathogenic
X	19351276	C	T	C19351276T	PDHA1	NM_000284.4(PDHA1):c.292-5C>T	coding	Benign/Likely_benign
X	19351280	G	A	G19351280A	PDHA1	NM_000284.4(PDHA1):c.292-1G>A	coding	Pathogenic
X	19351352	C	T	C19351352T	PDHA1	NM_000284.4(PDHA1):c.363C>T:p.His121=	coding	Benign/Likely_benign
X	19351368	C	T	C19351368T	PDHA1	NM_000284.4(PDHA1):c.379C>T:p.Arg127Trp	coding	Pathogenic
X	19351369	G	A	G19351369A	PDHA1	NM_000284.4(PDHA1):c.380G>A:p.Arg127Gln	coding	Pathogenic
X	19351385	A	C	A19351385C	PDHA1	NM_000284.4(PDHA1):c.396A>C:p.Arg132=	coding	Benign/Likely_benign
X	19352833	T	C	T19352833C	PDHA1	NM_000284.4(PDHA1):c.419-249T>C	noncoding	Benign
X	19353085	G	A	G19353085A	PDHA1	NM_000284.4(PDHA1):c.422G>A:p.Arg141Gln	coding	Pathogenic
X	19353145	A	G	A19353145G	PDHA1	NM_000284.4(PDHA1):c.482A>G:p.Tyr161Cys	coding	Pathogenic
X	19353146	C	T	C19353146T	PDHA1	NM_000284.4(PDHA1):c.483C>T:p.Tyr161=	coding	Pathogenic
X	19353154	A	G	A19353154G	PDHA1	NM_000284.4(PDHA1):c.491A>G:p.Asn164Ser	coding	Pathogenic/Likely_pathogenic
X	19353169	C	T	C19353169T	PDHA1	NM_000284.4(PDHA1):c.506C>T:p.Ala169Val	coding	Pathogenic
X	19353185	C	T	C19353185T	PDHA1	NM_000284.4(PDHA1):c.510+12C>T	noncoding	Benign
X	19354313	G	C	G19354313C	PDHA1	NM_000284.4(PDHA1):c.511-178G>C	noncoding	Benign
X	19354503	G	A	G19354503A	PDHA1	NM_000284.4(PDHA1):c.523G>A:p.Ala175Thr	coding	Pathogenic
X	19355334	C	T	C19355334T	PDHA1	NM_000284.4(PDHA1):c.604-15C>T	noncoding	Benign
X	19355335	G	A	G19355335A	PDHA1	NM_000284.4(PDHA1):c.604-14G>A	noncoding	Benign
X	19355339	C	T	C19355339T	PDHA1	NM_000284.4(PDHA1):c.604-10C>T	noncoding	Benign
X	19355360	C	G	C19355360G	PDHA1	NM_000284.4(PDHA1):c.615C>G:p.Phe205Leu	coding	Pathogenic/Likely_pathogenic
X	19355387	G	T	G19355387T	PDHA1	NM_000284.4(PDHA1):c.642G>T:p.Trp214Cys	coding	Pathogenic
X	19355393	A	C	A19355393C	PDHA1	NM_000284.4(PDHA1):c.648A>C:p.Leu216Phe	coding	Pathogenic
X	19355395	C	T	C19355395T	PDHA1	NM_000284.4(PDHA1):c.650C>T:p.Pro217Leu	coding	Pathogenic
X	19355432	G	C	G19355432C	PDHA1	NM_000284.4(PDHA1):c.687G>C:p.Met229Ile	coding	Pathogenic
X	19355438	G	A	G19355438A	PDHA1	NM_000284.4(PDHA1):c.693G>A:p.Thr231=	coding	Benign/Likely_benign
X	19355472	T	A	T19355472A	PDHA1	NM_000284.4(PDHA1):c.727T>A:p.Tyr243Asn	coding	Pathogenic
X	19355480	A	C	A19355480C	PDHA1	NM_000284.4(PDHA1):c.735A>C:p.Arg245Ser	coding	Pathogenic
X	19355483	C	T	C19355483T	PDHA1	NM_000284.4(PDHA1):c.738C>T:p.Gly246=	coding	Pathogenic/Likely_pathogenic
X	19355514	C	G	C19355514G	PDHA1	NM_000284.4(PDHA1):c.759+10C>G	noncoding	Benign
X	19355671	C	A	C19355671A	PDHA1	NM_000284.4(PDHA1):c.760-15C>A	noncoding	Benign
X	19355685	G	T	G19355685T	PDHA1	NM_000284.4(PDHA1):c.760-1G>T	noncoding	Pathogenic
X	19355699	A	C	A19355699C	PDHA1	NM_000284.4(PDHA1):c.773A>C:p.Asp258Ala	coding	Pathogenic
X	19355710	G	A	G19355710A	PDHA1	NM_000284.4(PDHA1):c.784G>A:p.Val262Ile	coding	Benign/Likely_benign
X	19355713	C	G	C19355713G	PDHA1	NM_000284.4(PDHA1):c.787C>G:p.Arg263Gly	coding	Pathogenic
X	19355721	A	G	A19355721G	PDHA1	NM_000284.4(PDHA1):c.795A>G:p.Ala265=	coding	Benign
X	19355724	A	G	A19355724G	PDHA1	NM_000284.4(PDHA1):c.798A>G:p.Thr266=	coding	Benign/Likely_benign
X	19355759	T	C	T19355759C	PDHA1	NM_000284.4(PDHA1):c.831+2T>C	noncoding	Pathogenic
X	19355772	C	T	C19355772T	PDHA1	NM_000284.4(PDHA1):c.831+15C>T	noncoding	Benign
X	19357441	A	G	A19357441G	PDHA1	NM_000284.4(PDHA1):c.832-211A>G	noncoding	Benign
X	19357651	G	A	G19357651A	PDHA1	NM_000284.4(PDHA1):c.832-1G>A	noncoding	Pathogenic
X	19357652	G	A	G19357652A	PDHA1	NM_000284.4(PDHA1):c.832G>A:p.Gly278Arg	coding	Pathogenic/Likely_pathogenic
X	19357664	A	C	A19357664C	PDHA1	NM_000284.4(PDHA1):c.844A>C:p.Met282Leu	coding	Benign
X	19357682	C	T	C19357682T	PDHA1	NM_000284.4(PDHA1):c.862C>T:p.Arg288Cys	coding	Pathogenic
X	19357683	G	A	G19357683A	PDHA1	NM_000284.4(PDHA1):c.863G>A:p.Arg288His	coding	Pathogenic
X	19357690	C	T	C19357690T	PDHA1	NM_000284.4(PDHA1):c.870C>T:p.His290=	coding	Benign
X	19357731	G	A	G19357731A	PDHA1	NM_000284.4(PDHA1):c.899+12G>A	noncoding	Benign
X	19357737	G	A	G19357737A	PDHA1	NM_000284.4(PDHA1):c.899+18G>A	noncoding	Benign
X	19358914	A	G	A19358914G	PDHA1	NM_000284.4(PDHA1):c.900-2A>G	noncoding	Pathogenic
X	19358920	C	T	C19358920T	PDHA1	NM_000284.4(PDHA1):c.904C>T:p.Arg302Cys	coding	Pathogenic
X	19358921	G	A	G19358921A	PDHA1	NM_000284.4(PDHA1):c.905G>A:p.Arg302His	coding	Pathogenic
X	19358926	C	T	C19358926T	PDHA1	NM_000284.4(PDHA1):c.910C>T:p.Arg304Ter	coding	Pathogenic
X	19359015	A	C	A19359015C	PDHA1	NM_000284.4(PDHA1):c.999A>C:p.Glu333Asp	coding	Benign
X	19359278	T	C	T19359278C	PDHA1	NM_000284.4(PDHA1):c.1009-211T>C	noncoding	Benign
X	19359466	T	C	T19359466C	PDHA1	NM_000284.4(PDHA1):c.1009-23T>C	noncoding	Benign
X	19359542	G	T	G19359542T	PDHA1	NM_000284.4(PDHA1):c.1062G>T:p.Thr354=	coding	Benign
X	19359594	G	A	G19359594A	PDHA1	NM_000284.4(PDHA1):c.1114G>A:p.Asp372Asn	coding	Benign
X	19359612	C	T	C19359612T	PDHA1	NM_000284.4(PDHA1):c.1132C>T:p.Arg378Cys	coding	Pathogenic
X	19359613	G	A	G19359613A	PDHA1	NM_000284.4(PDHA1):c.1133G>A:p.Arg378His	coding	Pathogenic/Likely_pathogenic
X	19359763	C	T	C19359763T	PDHA1	NM_000284.4(PDHA1):c.*110C>T	noncoding	Benign
X	19359972	G	T	G19359972T	PDHA1	NM_000284.4(PDHA1):c.*319G>T	noncoding	Benign
X	19359975	G	A	G19359975A	PDHA1	NM_000284.4(PDHA1):c.*322G>A	noncoding	Benign
X	19360045	G	A	G19360045A	PDHA1	NM_000284.4(PDHA1):c.*392G>A	noncoding	Benign
X	19360178	C	G	C19360178G	PDHA1	NM_000284.4(PDHA1):c.*525C>G	noncoding	Benign
X	19360267	G	T	G19360267T	PDHA1	NM_000284.4(PDHA1):c.*614G>T	noncoding	Benign
X	19360360	G	A	G19360360A	PDHA1	NM_000284.4(PDHA1):c.*707G>A	noncoding	Benign
X	19360381	C	T	C19360381T	PDHA1	NM_000284.4(PDHA1):c.*728C>T	noncoding	Benign
X	19360497	A	G	A19360497G	PDHA1	NM_000284.4(PDHA1):c.*844A>G	noncoding	Benign
X	19360510	A	G	A19360510G	PDHA1	NM_000284.4(PDHA1):c.*857A>G	noncoding	Benign
X	19360517	G	A	G19360517A	PDHA1	NM_000284.4(PDHA1):c.*864G>A	noncoding	Benign
X	19360666	C	A	C19360666A	PDHA1	NM_000284.4(PDHA1):c.*1013C>A	noncoding	Benign
X	19360712	G	A	G19360712A	PDHA1	NM_000284.4(PDHA1):c.*1059G>A	noncoding	Benign
X	19360861	A	C	A19360861C	PDHA1	NM_000284.4(PDHA1):c.*1208A>C	coding	Benign
X	19360998	A	G	A19360998G	PDHA1	NM_000284.4(PDHA1):c.*1345A>G	coding	Benign
X	19361030	G	A	G19361030A	PDHA1	NM_000284.4(PDHA1):c.*1377G>A	coding	Benign
X	19361047	C	T	C19361047T	PDHA1	NM_000284.4(PDHA1):c.*1394C>T	coding	Benign
X	19361103	C	T	C19361103T	PDHA1	NM_000284.4(PDHA1):c.*1450C>T	coding	Benign
X	19361216	C	G	C19361216G	PDHA1	NM_000284.4(PDHA1):c.*1563C>G	coding	Benign
X	19361251	G	C	G19361251C	PDHA1	NM_000284.4(PDHA1):c.*1598G>C	coding	Benign
X	19361335	T	C	T19361335C	PDHA1	NM_000284.4(PDHA1):c.*1682T>C	coding	Benign
X	19361522	G	C	G19361522C	PDHA1	NM_000284.4(PDHA1):c.*1869G>C	coding	Benign
X	19464336	C	T	C19464336T	MAP3K15	NM_001001671.3(MAP3K15):c.596G>A:p.Ser199Asn	coding	Benign
X	19545924	G	C	G19545924C	SH3KBP1	NM_031892.3(SH3KBP1):c.1621C>G:p.Gln541Glu	coding	Benign
X	19836245	G	A	G19836245A	SH3KBP1	NM_031892.3(SH3KBP1):c.42C>T:p.His14=	coding	Benign
X	20010875	G	A	G20010875A	MAP7D2	NM_001168465.2(MAP7D2):c.2250C>T:p.Asp750=	coding	Benign
X	20130537	A	G	A20130537G	EIF1AX	NM_001412.4(EIF1AX):c.408T>C:p.Asp136=	coding	Benign
X	20135846	C	T	C20135846T	EIF1AX	NM_001412.4(EIF1AX):c.101-5G>A	noncoding	Benign
X	20155436	G	A	G20155436A	RPS6KA3	NM_004586.3(RPS6KA3):c.2185C>T:p.Arg729Trp	coding	Pathogenic/Likely_pathogenic
X	20156144	G	A	G20156144A	RPS6KA3	NM_004586.3(RPS6KA3):c.2065C>T:p.Gln689Ter	coding	Pathogenic
X	20156213	G	A	G20156213A	RPS6KA3	NM_004586.3(RPS6KA3):c.1996C>T:p.Gln666Ter	coding	Pathogenic
X	20156220	G	A	G20156220A	RPS6KA3	NM_004586.3(RPS6KA3):c.1989C>T:p.Asp663=	coding	Benign/Likely_benign
X	20156239	G	C	G20156239C	RPS6KA3	NM_004586.3(RPS6KA3):c.1970C>G:p.Ser657Ter	coding	Pathogenic
X	20161669	C	T	C20161669T	RPS6KA3	NM_004586.3(RPS6KA3):c.1934G>A:p.Trp645Ter	coding	Pathogenic
X	20161709	G	A	G20161709A	RPS6KA3	NM_004586.3(RPS6KA3):c.1894C>T:p.Arg632Ter	coding	Pathogenic
X	20163042	T	G	T20163042G	RPS6KA3	NM_004586.3(RPS6KA3):c.1765-2A>C	noncoding	Pathogenic
X	20164964	G	A	G20164964A	RPS6KA3	NM_004586.3(RPS6KA3):c.1699C>T:p.Gln567Ter	coding	Pathogenic
X	20165057	C	A	C20165057A	RPS6KA3	NM_004586.3(RPS6KA3):c.1606G>T:p.Val536Phe	coding	Pathogenic
X	20167669	G	A	G20167669A	RPS6KA3	NM_004586.3(RPS6KA3):c.1522C>T:p.Gln508Ter	coding	Pathogenic
X	20175179	T	C	T20175179C	RPS6KA3	NM_004586.3(RPS6KA3):c.1212A>G:p.Val404=	coding	Benign
X	20175244	G	A	G20175244A	RPS6KA3	NM_004586.3(RPS6KA3):c.1147C>T:p.Arg383Trp	coding	Pathogenic
X	20176272	C	T	C20176272T	RPS6KA3	NM_004586.3(RPS6KA3):c.1080G>A:p.Glu360=	coding	Benign
X	20176329	A	G	A20176329G	RPS6KA3	NM_004586.3(RPS6KA3):c.1023T>C:p.His341=	coding	Benign
X	20176998	A	C	A20176998C	RPS6KA3	NM_004586.3(RPS6KA3):c.932T>G:p.Leu311Ter	coding	Pathogenic
X	20177017	G	A	G20177017A	RPS6KA3	NM_004586.3(RPS6KA3):c.913C>T:p.Arg305Ter	coding	Pathogenic
X	20177032	G	A	G20177032A	RPS6KA3	NM_004586.3(RPS6KA3):c.898C>T:p.Arg300Ter	coding	Pathogenic
X	20177090	T	C	T20177090C	RPS6KA3	NM_004586.3(RPS6KA3):c.846-6A>G	noncoding	Benign
X	20186338	A	G	A20186338G	RPS6KA3	NM_004586.3(RPS6KA3):c.803T>C:p.Phe268Ser	coding	Pathogenic
X	20186343	G	T	G20186343T	RPS6KA3	NM_004586.3(RPS6KA3):c.798C>A:p.Leu266=	coding	Benign
X	20187827	C	T	C20187827T	RPS6KA3	NM_004586.3(RPS6KA3):c.774+1G>A	noncoding	Pathogenic
X	20187875	G	A	G20187875A	RPS6KA3	NM_004586.3(RPS6KA3):c.727C>T:p.Arg243Ter	coding	Pathogenic
X	20187890	C	A	C20187890A	RPS6KA3	NM_004586.3(RPS6KA3):c.712G>T:p.Glu238Ter	coding	Pathogenic
X	20187923	A	C	A20187923C	RPS6KA3	NM_004586.3(RPS6KA3):c.679T>G:p.Ser227Ala	coding	Pathogenic
X	20187971	C	G	C20187971G	RPS6KA3	NM_004586.3(RPS6KA3):c.632-1G>C	coding	Pathogenic
X	20187971	C	T	C20187971T	RPS6KA3	NM_004586.3(RPS6KA3):c.632-1G>A	coding	Pathogenic
X	20193514	A	T	A20193514T	RPS6KA3	NM_004586.3(RPS6KA3):c.566T>A:p.Ile189Lys	coding	Pathogenic
X	20194186	T	C	T20194186C	RPS6KA3	NM_004586.3(RPS6KA3):c.486+3A>G	noncoding	Pathogenic
X	20194189	C	T	C20194189T	RPS6KA3	NM_004586.3(RPS6KA3):c.486G>A:p.Glu162=	coding	Pathogenic
X	20195128	T	A	T20195128A	RPS6KA3	NM_004586.3(RPS6KA3):c.343A>T:p.Thr115Ser	coding	Pathogenic
X	20195137	G	A	G20195137A	RPS6KA3	NM_004586.3(RPS6KA3):c.334C>T:p.Arg112Ter	coding	Pathogenic
X	20195143	G	A	G20195143A	RPS6KA3	NM_004586.3(RPS6KA3):c.328C>T:p.Arg110Ter	coding	Pathogenic
X	20195146	C	G	C20195146G	RPS6KA3	NM_004586.3(RPS6KA3):c.326-1G>C	coding	Pathogenic
X	20204103	C	A	C20204103A	RPS6KA3	NM_004586.3(RPS6KA3):c.244G>T:p.Val82Phe	coding	Pathogenic
X	20204108	A	G	A20204108G	RPS6KA3	NM_004586.3(RPS6KA3):c.244-5T>C	noncoding	Benign/Likely_benign
X	20209287	C	T	C20209287T	RPS6KA3	NM_004586.3(RPS6KA3):c.243+1G>A	noncoding	Pathogenic
X	20209307	C	A	C20209307A	RPS6KA3	NM_004586.3(RPS6KA3):c.224G>T:p.Gly75Val	coding	Pathogenic
X	20209318	T	C	T20209318C	RPS6KA3	NM_004586.3(RPS6KA3):c.213A>G:p.Leu71=	coding	Benign
X	20209326	C	A	C20209326A	RPS6KA3	NM_004586.3(RPS6KA3):c.205G>T:p.Glu69Ter	coding	Pathogenic
X	20209327	A	C	A20209327C	RPS6KA3	NM_004586.3(RPS6KA3):c.204T>G:p.Phe68Leu	coding	Pathogenic
X	20209392	T	C	T20209392C	RPS6KA3	NM_004586.3(RPS6KA3):c.139A>G:p.Ile47Val	coding	Benign
X	20234771	A	C	A20234771C	RPS6KA3	NM_004586.3(RPS6KA3):c.113T>G:p.Ile38Ser	coding	Benign
X	21432681	C	T	C21432681T	CNKSR2	NM_014927.5(CNKSR2):c.298C>T:p.Gln100Ter	coding	Pathogenic
X	21470771	T	C	T21470771C	CNKSR2	NM_014927.5(CNKSR2):c.525T>C:p.Cys175=	coding	Benign
X	21490548	A	G	A21490548G	CNKSR2	NM_014927.5(CNKSR2):c.651A>G:p.Gln217=	coding	Benign
X	21526897	G	A	G21526897A	CNKSR2	NM_014927.5(CNKSR2):c.988G>A:p.Val330Ile	coding	Benign
X	21532046	C	T	C21532046T	CNKSR2	NM_014927.5(CNKSR2):c.1282C>T:p.Arg428Ter	coding	Pathogenic
X	21591098	G	A	G21591098A	CNKSR2	NM_014927.5(CNKSR2):c.1734G>A:p.Trp578Ter	coding	Pathogenic
X	21601281	G	A	G21601281A	CNKSR2	NM_014927.5(CNKSR2):c.1977-1G>A	noncoding	Pathogenic
X	21606868	C	T	C21606868T	CNKSR2	NM_014927.5(CNKSR2):c.2134C>T:p.Arg712Ter	coding	Pathogenic
X	21606880	G	A	G21606880A	CNKSR2	NM_014927.5(CNKSR2):c.2145+1G>A	coding	Pathogenic
X	21609323	A	G	A21609323G	CNKSR2	NM_014927.5(CNKSR2):c.2398A>G:p.Ile800Val	coding	Benign
X	21609374	C	T	C21609374T	CNKSR2	NM_014927.5(CNKSR2):c.2449C>T:p.Leu817=	coding	Benign
X	21609535	C	T	C21609535T	CNKSR2	NM_014927.5(CNKSR2):c.2610C>T:p.Asp870=	coding	Benign
X	21652342	C	T	C21652342T	CNKSR2	NM_014927.5(CNKSR2):c.2926C>T:p.Leu976=	coding	Benign
X	21652399	G	A	G21652399A	CNKSR2	NM_014927.5(CNKSR2):c.2983G>A:p.Asp995Asn	coding	Benign
X	21737616	C	A	C21737616A	SMPX	NM_014332.3(SMPX):c.214G>T:p.Glu72Ter	coding	Pathogenic
X	21737655	C	A	C21737655A	SMPX	NM_014332.3(SMPX):c.175G>T:p.Gly59Ter	coding	Pathogenic
X	21743750	C	T	C21743750T	SMPX	NM_014332.3(SMPX):c.132G>A:p.Glu44=	coding	Benign/Likely_benign
X	21743755	C	A	C21743755A	SMPX	NM_014332.3(SMPX):c.127G>T:p.Glu43Ter	coding	Pathogenic
X	21743773	C	A	C21743773A	SMPX	NM_014332.3(SMPX):c.109G>T:p.Glu37Ter	coding	Pathogenic
X	21743827	T	C	T21743827C	SMPX	NM_014332.3(SMPX):c.55A>G:p.Asn19Asp	coding	Benign
X	21839764	G	C	G21839764C	MBTPS2	NM_015884.4(MBTPS2):c.30G>C:p.Val10=	coding	Benign
X	21843312	A	G	A21843312G	MBTPS2	NM_015884.4(MBTPS2):c.218A>G:p.Tyr73Cys	coding	Benign
X	21843316	A	G	A21843316G	MBTPS2	NM_015884.4(MBTPS2):c.222A>G:p.Gln74=	coding	Benign
X	21845207	G	A	G21845207A	MBTPS2	NM_015884.4(MBTPS2):c.261G>A:p.Met87Ile	coding	Pathogenic
X	21845253	G	A	G21845253A	MBTPS2	NM_015884.4(MBTPS2):c.307G>A:p.Ala103Thr	coding	Benign
X	21845354	G	A	G21845354A	MBTPS2	NM_015884.4(MBTPS2):c.408G>A:p.Ser136=	coding	Benign
X	21851529	C	T	C21851529T	MBTPS2	NM_015884.4(MBTPS2):c.459C>T:p.Pro153=	coding	Benign
X	21851555	C	T	C21851555T	MBTPS2	NM_015884.4(MBTPS2):c.485C>T:p.Thr162Met	coding	Benign
X	21853445	G	A	G21853445A	MBTPS2	NM_015884.4(MBTPS2):c.612G>A:p.Leu204=	coding	Benign
X	21853472	G	A	G21853472A	MBTPS2	NM_015884.4(MBTPS2):c.639G>A:p.Ser213=	coding	Benign
X	21868458	T	G	T21868458G	MBTPS2	NM_015884.4(MBTPS2):c.671-9T>G	noncoding	Pathogenic
X	21868473	G	T	G21868473T	MBTPS2	NM_015884.4(MBTPS2):c.677G>T:p.Trp226Leu	coding	Pathogenic
X	21868476	A	T	A21868476T	MBTPS2	NM_015884.4(MBTPS2):c.680A>T:p.His227Leu	coding	Pathogenic
X	21869554	A	G	A21869554G	MBTPS2	NM_015884.4(MBTPS2):c.846A>G:p.Leu282=	coding	Benign
X	21878084	A	T	A21878084T	MBTPS2	NM_015884.4(MBTPS2):c.1013A>T:p.His338Leu	coding	Benign
X	21880921	G	A	G21880921A	MBTPS2	NM_015884.4(MBTPS2):c.1286G>A:p.Arg429His	coding	Pathogenic
X	21882471	A	G	A21882471G	MBTPS2	NM_015884.4(MBTPS2):c.1376A>G:p.Asn459Ser	coding	Pathogenic
X	21882486	T	C	T21882486C	MBTPS2	NM_015884.4(MBTPS2):c.1391T>C:p.Phe464Ser	coding	Pathogenic
X	21882502	A	G	A21882502G	MBTPS2	NM_015884.4(MBTPS2):c.1407A>G:p.Gln469=	coding	Benign
X	21882519	T	C	T21882519C	MBTPS2	NM_015884.4(MBTPS2):c.1424T>C:p.Phe475Ser	coding	Pathogenic
X	21882610	G	C	G21882610C	MBTPS2	NM_015884.4(MBTPS2):c.1515G>C:p.Leu505Phe	coding	Pathogenic
X	21882618	A	G	A21882618G	MBTPS2	NM_015884.4(MBTPS2):c.1523A>G:p.Asn508Ser	coding	Pathogenic
X	21967209	C	T	C21967209T	SMS	NM_004595.5(SMS):c.63C>T:p.Thr21=	coding	Benign
X	21967312	G	A	G21967312A	SMS	NM_004595.5(SMS):c.166G>A:p.Gly56Ser	coding	Pathogenic/Likely_pathogenic
X	21971897	C	T	C21971897T	SMS	NM_004595.5(SMS):c.171C>T:p.Ser57=	coding	Benign
X	21971900	T	A	T21971900A	SMS	NM_004595.5(SMS):c.174T>A:p.Phe58Leu	coding	Pathogenic
X	21971926	G	A	G21971926A	SMS	NM_004595.5(SMS):c.200G>A:p.Gly67Glu	coding	Pathogenic
X	21972576	G	A	G21972576A	SMS	NM_004595.5(SMS):c.329+5G>A	noncoding	Pathogenic
X	21977119	C	T	C21977119T	SMS	NM_004595.5(SMS):c.388C>T:p.Arg130Cys	coding	Pathogenic
X	21977126	T	G	T21977126G	SMS	NM_004595.5(SMS):c.395T>G:p.Val132Gly	coding	Pathogenic
X	21977174	A	G	A21977174G	SMS	NM_004595.5(SMS):c.443A>G:p.Gln148Arg	coding	Pathogenic
X	21978015	A	G	A21978015G	SMS	NM_004595.5(SMS):c.561A>G:p.Glu187=	coding	Benign
X	21978023	C	T	C21978023T	SMS	NM_004595.5(SMS):c.569C>T:p.Thr190Ile	coding	Benign/Likely_benign
X	21978062	G	A	G21978062A	SMS	NM_004595.5(SMS):c.608G>A:p.Gly203Asp	coding	Pathogenic
X	21985183	C	T	C21985183T	SMS	NM_004595.5(SMS):c.905C>T:p.Ser302Leu	coding	Pathogenic
X	21992634	A	G	A21992634G	SMS	NM_004595.5(SMS):c.983A>G:p.Tyr328Cys	coding	Pathogenic
X	21992677	A	C	A21992677C	SMS	NM_004595.5(SMS):c.1026A>C:p.Ser342=	coding	Benign/Likely_benign
X	22032880	C	G	C22032880G	PHEX	NM_000444.6(PHEX):c.-126C>G	noncoding	Benign
X	22032898	A	G	A22032898G	PHEX	NM_000444.6(PHEX):c.-108A>G	noncoding	Benign
X	22032916	A	G	A22032916G	PHEX	NM_000444.6(PHEX):c.-90A>G	noncoding	Benign
X	22032973	C	T	C22032973T	PHEX	NM_000444.6(PHEX):c.-33C>T	noncoding	Benign
X	22033008	G	T	G22033008T	PHEX	NM_000444.6(PHEX):c.3G>T:p.Met1Ile	coding	Pathogenic
X	22033054	A	T	A22033054T	PHEX	NM_000444.6(PHEX):c.49A>T:p.Arg17Ter	coding	Pathogenic
X	22033063	C	T	C22033063T	PHEX	NM_000444.6(PHEX):c.58C>T:p.Arg20Ter	coding	Pathogenic
X	22033086	C	T	C22033086T	PHEX	NM_000444.6(PHEX):c.81C>T:p.Val27=	coding	Benign
X	22033124	G	A	G22033124A	PHEX	NM_000444.6(PHEX):c.118+1G>A	coding	Pathogenic
X	22033124	G	T	G22033124T	PHEX	NM_000444.6(PHEX):c.118+1G>T	coding	Pathogenic
X	22033130	G	T	G22033130T	PHEX	NM_000444.6(PHEX):c.118+7G>T	noncoding	Benign
X	22038466	C	G	C22038466G	PHEX	NM_000444.6(PHEX):c.119-3C>G	noncoding	Pathogenic
X	22038484	T	A	T22038484A	PHEX	NM_000444.6(PHEX):c.134T>A:p.Leu45Ter	coding	Pathogenic
X	22038484	T	G	T22038484G	PHEX	NM_000444.6(PHEX):c.134T>G:p.Leu45Ter	coding	Pathogenic
X	22038492	C	T	C22038492T	PHEX	NM_000444.6(PHEX):c.142C>T:p.Gln48Ter	coding	Pathogenic
X	22038501	C	T	C22038501T	PHEX	NM_000444.6(PHEX):c.151C>T:p.Gln51Ter	coding	Pathogenic
X	22038504	G	T	G22038504T	PHEX	NM_000444.6(PHEX):c.154G>T:p.Glu52Ter	coding	Pathogenic
X	22038531	G	T	G22038531T	PHEX	NM_000444.6(PHEX):c.181G>T:p.Glu61Ter	coding	Pathogenic
X	22038538	G	A	G22038538A	PHEX	NM_000444.6(PHEX):c.187+1G>A	coding	Pathogenic
X	22038538	G	T	G22038538T	PHEX	NM_000444.6(PHEX):c.187+1G>T	coding	Pathogenic
X	22047049	G	C	G22047049C	PHEX	NM_000444.6(PHEX):c.188-1G>C	noncoding	Pathogenic
X	22047092	G	T	G22047092T	PHEX	NM_000444.6(PHEX):c.230G>T:p.Cys77Phe	coding	Pathogenic/Likely_pathogenic
X	22047111	C	T	C22047111T	PHEX	NM_000444.6(PHEX):c.249C>T:p.Phe83=	coding	Benign
X	22047115	T	C	T22047115C	PHEX	NM_000444.6(PHEX):c.253T>C:p.Cys85Arg	coding	Pathogenic
X	22047116	G	A	G22047116A	PHEX	NM_000444.6(PHEX):c.254G>A:p.Cys85Tyr	coding	Pathogenic
X	22047125	G	A	G22047125A	PHEX	NM_000444.6(PHEX):c.263G>A:p.Trp88Ter	coding	Pathogenic
X	22047150	A	G	A22047150G	PHEX	NM_000444.6(PHEX):c.288A>G:p.Glu96=	coding	Benign
X	22047166	G	A	G22047166A	PHEX	NM_000444.6(PHEX):c.304G>A:p.Gly102Arg	coding	Pathogenic
X	22047174	T	G	T22047174G	PHEX	NM_000444.6(PHEX):c.312T>G:p.Tyr104Ter	coding	Pathogenic
X	22047180	G	A	G22047180A	PHEX	NM_000444.6(PHEX):c.318G>A:p.Trp106Ter	coding	Pathogenic/Likely_pathogenic
X	22047212	G	A	G22047212A	PHEX	NM_000444.6(PHEX):c.349+1G>A	coding	Pathogenic
X	22076386	A	G	A22076386G	PHEX	NM_000444.6(PHEX):c.350-2A>G	noncoding	Pathogenic
X	22076418	G	A	G22076418A	PHEX	NM_000444.6(PHEX):c.380G>A:p.Arg127Gln	coding	Benign
X	22076435	C	T	C22076435T	PHEX	NM_000444.6(PHEX):c.397C>T:p.Gln133Ter	coding	Pathogenic
X	22076453	T	A	T22076453A	PHEX	NM_000444.6(PHEX):c.415T>A:p.Tyr139Asn	coding	Pathogenic
X	22076457	C	G	C22076457G	PHEX	NM_000444.6(PHEX):c.419C>G:p.Ser140Ter	coding	Pathogenic
X	22076463	G	T	G22076463T	PHEX	NM_000444.6(PHEX):c.425G>T:p.Cys142Phe	coding	Pathogenic
X	22076464	C	A	C22076464A	PHEX	NM_000444.6(PHEX):c.426C>A:p.Cys142Ter	coding	Pathogenic
X	22076475	G	A	G22076475A	PHEX	NM_000444.6(PHEX):c.436+1G>A	coding	Pathogenic
X	22076476	T	A	T22076476A	PHEX	NM_000444.6(PHEX):c.436+2T>A	noncoding	Pathogenic
X	22076480	T	C	T22076480C	PHEX	NM_000444.6(PHEX):c.436+6T>C	noncoding	Pathogenic
X	22077480	G	A	G22077480A	PHEX	NM_000444.6(PHEX):c.441G>A:p.Ala147=	coding	Benign
X	22077487	A	T	A22077487T	PHEX	NM_000444.6(PHEX):c.448A>T:p.Lys150Ter	coding	Pathogenic
X	22077506	T	C	T22077506C	PHEX	NM_000444.6(PHEX):c.467T>C:p.Leu156Pro	coding	Pathogenic
X	22077528	A	G	A22077528G	PHEX	NM_000444.6(PHEX):c.489A>G:p.Ser163=	coding	Benign
X	22077539	G	A	G22077539A	PHEX	NM_000444.6(PHEX):c.500G>A:p.Trp167Ter	coding	Pathogenic
X	22077540	G	A	G22077540A	PHEX	NM_000444.6(PHEX):c.501G>A:p.Trp167Ter	coding	Pathogenic
X	22077542	C	T	C22077542T	PHEX	NM_000444.6(PHEX):c.503C>T:p.Pro168Leu	coding	Pathogenic/Likely_pathogenic
X	22077576	T	A	T22077576A	PHEX	NM_000444.6(PHEX):c.537T>A:p.Val179=	coding	Benign/Likely_benign
X	22077579	G	A	G22077579A	PHEX	NM_000444.6(PHEX):c.540G>A:p.Trp180Ter	coding	Pathogenic
X	22077604	C	T	C22077604T	PHEX	NM_000444.6(PHEX):c.565C>T:p.Gln189Ter	coding	Pathogenic
X	22077630	A	G	A22077630G	PHEX	NM_000444.6(PHEX):c.591A>G:p.Gln197=	coding	Pathogenic/Likely_pathogenic
X	22077656	T	A	T22077656A	PHEX	NM_000444.6(PHEX):c.617T>A:p.Leu206Ter	coding	Pathogenic
X	22077656	T	G	T22077656G	PHEX	NM_000444.6(PHEX):c.617T>G:p.Leu206Trp	coding	Pathogenic
X	22077660	T	G	T22077660G	PHEX	NM_000444.6(PHEX):c.621T>G:p.Tyr207Ter	coding	Pathogenic
X	22077670	G	A	G22077670A	PHEX	NM_000444.6(PHEX):c.631G>A:p.Asp211Asn	coding	Benign/Likely_benign
X	22077688	G	T	G22077688T	PHEX	NM_000444.6(PHEX):c.649G>T:p.Glu217Ter	coding	Pathogenic
X	22077703	G	A	G22077703A	PHEX	NM_000444.6(PHEX):c.663+1G>A	coding	Pathogenic
X	22077704	T	A	T22077704A	PHEX	NM_000444.6(PHEX):c.663+2T>A	noncoding	Pathogenic
X	22077704	T	C	T22077704C	PHEX	NM_000444.6(PHEX):c.663+2T>C	noncoding	Pathogenic
X	22077710	G	A	G22077710A	PHEX	NM_000444.6(PHEX):c.663+8G>A	noncoding	Benign
X	22090428	G	A	G22090428A	PHEX	NM_000444.6(PHEX):c.664-1G>A	noncoding	Pathogenic
X	22090435	C	T	C22090435T	PHEX	NM_000444.6(PHEX):c.670C>T:p.Gln224Ter	coding	Pathogenic
X	22090444	C	A	C22090444A	PHEX	NM_000444.6(PHEX):c.679C>A:p.Leu227Ile	coding	Pathogenic
X	22090472	T	C	T22090472C	PHEX	NM_000444.6(PHEX):c.707T>C:p.Leu236Pro	coding	Pathogenic
X	22090502	G	A	G22090502A	PHEX	NM_000444.6(PHEX):c.732+5G>A	noncoding	Pathogenic
X	22090502	G	C	G22090502C	PHEX	NM_000444.6(PHEX):c.732+5G>C	noncoding	Pathogenic
X	22093981	A	T	A22093981T	PHEX	NM_000444.6(PHEX):c.733-2A>T	noncoding	Pathogenic
X	22093982	G	A	G22093982A	PHEX	NM_000444.6(PHEX):c.733-1G>A	noncoding	Pathogenic
X	22093982	G	C	G22093982C	PHEX	NM_000444.6(PHEX):c.733-1G>C	noncoding	Pathogenic
X	22094000	C	A	C22094000A	PHEX	NM_000444.6(PHEX):c.750C>A:p.Tyr250Ter	coding	Pathogenic
X	22094064	A	T	A22094064T	PHEX	NM_000444.6(PHEX):c.814A>T:p.Lys272Ter	coding	Pathogenic
X	22094080	T	A	T22094080A	PHEX	NM_000444.6(PHEX):c.830T>A:p.Leu277Ter	coding	Pathogenic
X	22094082	G	T	G22094082T	PHEX	NM_000444.6(PHEX):c.832G>T:p.Glu278Ter	coding	Pathogenic
X	22094100	G	A	G22094100A	PHEX	NM_000444.6(PHEX):c.849+1G>A	coding	Pathogenic
X	22094102	A	G	A22094102G	PHEX	NM_000444.6(PHEX):c.849+3A>G	noncoding	Benign
X	22095367	G	T	G22095367T	PHEX	NM_000444.6(PHEX):c.849+1268G>T	noncoding	Pathogenic
X	22096970	G	T	G22096970T	PHEX	NM_000444.6(PHEX):c.865G>T:p.Glu289Ter	coding	Pathogenic
X	22096976	C	T	C22096976T	PHEX	NM_000444.6(PHEX):c.871C>T:p.Arg291Ter	coding	Pathogenic
X	22097008	C	T	C22097008T	PHEX	NM_000444.6(PHEX):c.903C>T:p.Asn301=	coding	Benign/Likely_benign
X	22097039	G	T	G22097039T	PHEX	NM_000444.6(PHEX):c.933+1G>T	coding	Pathogenic
X	22099004	A	G	A22099004G	PHEX	NM_000444.6(PHEX):c.934-2A>G	noncoding	Pathogenic
X	22099005	G	T	G22099005T	PHEX	NM_000444.6(PHEX):c.934-1G>T	noncoding	Pathogenic
X	22099013	G	A	G22099013A	PHEX	NM_000444.6(PHEX):c.941G>A:p.Trp314Ter	coding	Pathogenic
X	22099014	G	A	G22099014A	PHEX	NM_000444.6(PHEX):c.942G>A:p.Trp314Ter	coding	Pathogenic
X	22099053	C	G	C22099053G	PHEX	NM_000444.6(PHEX):c.981C>G:p.Tyr327Ter	coding	Pathogenic
X	22099068	C	T	C22099068T	PHEX	NM_000444.6(PHEX):c.996C>T:p.Asp332=	coding	Benign
X	22099080	C	T	C22099080T	PHEX	NM_000444.6(PHEX):c.1008C>T:p.Ser336=	coding	Benign
X	22099081	G	T	G22099081T	PHEX	NM_000444.6(PHEX):c.1009G>T:p.Glu337Ter	coding	Pathogenic
X	22099094	T	A	T22099094A	PHEX	NM_000444.6(PHEX):c.1022T>A:p.Val341Asp	coding	Pathogenic
X	22099105	C	T	C22099105T	PHEX	NM_000444.6(PHEX):c.1033C>T:p.Gln345Ter	coding	Pathogenic
X	22099152	G	A	G22099152A	PHEX	NM_000444.6(PHEX):c.1079+1G>A	coding	Pathogenic
X	22111465	A	G	A22111465G	PHEX	NM_000444.6(PHEX):c.1080-2A>G	noncoding	Pathogenic
X	22111466	G	A	G22111466A	PHEX	NM_000444.6(PHEX):c.1080-1G>A	noncoding	Pathogenic
X	22111490	G	A	G22111490A	PHEX	NM_000444.6(PHEX):c.1103G>A:p.Trp368Ter	coding	Pathogenic
X	22111491	G	A	G22111491A	PHEX	NM_000444.6(PHEX):c.1104G>A:p.Trp368Ter	coding	Pathogenic
X	22111492	A	T	A22111492T	PHEX	NM_000444.6(PHEX):c.1105A>T:p.Arg369Ter	coding	Pathogenic
X	22111503	T	A	T22111503A	PHEX	NM_000444.6(PHEX):c.1116T>A:p.Tyr372Ter	coding	Pathogenic
X	22111534	C	T	C22111534T	PHEX	NM_000444.6(PHEX):c.1147C>T:p.Gln383Ter	coding	Pathogenic
X	22111544	G	A	G22111544A	PHEX	NM_000444.6(PHEX):c.1157G>A:p.Trp386Ter	coding	Pathogenic
X	22111545	G	A	G22111545A	PHEX	NM_000444.6(PHEX):c.1158G>A:p.Trp386Ter	coding	Pathogenic
X	22111561	G	C	G22111561C	PHEX	NM_000444.6(PHEX):c.1173+1G>C	coding	Pathogenic
X	22111562	T	C	T22111562C	PHEX	NM_000444.6(PHEX):c.1173+2T>C	noncoding	Pathogenic
X	22114456	A	G	A22114456G	PHEX	NM_000444.6(PHEX):c.1174-2A>G	noncoding	Pathogenic
X	22114464	C	T	C22114464T	PHEX	NM_000444.6(PHEX):c.1180C>T:p.Gln394Ter	coding	Pathogenic
X	22114488	C	T	C22114488T	PHEX	NM_000444.6(PHEX):c.1204C>T:p.Gln402Ter	coding	Pathogenic
X	22114490	A	G	A22114490G	PHEX	NM_000444.6(PHEX):c.1206A>G:p.Gln402=	coding	Benign
X	22114492	G	A	G22114492A	PHEX	NM_000444.6(PHEX):c.1208G>A:p.Trp403Ter	coding	Pathogenic
X	22114493	G	A	G22114493A	PHEX	NM_000444.6(PHEX):c.1209G>A:p.Trp403Ter	coding	Pathogenic
X	22114500	T	C	T22114500C	PHEX	NM_000444.6(PHEX):c.1216T>C:p.Cys406Arg	coding	Pathogenic/Likely_pathogenic
X	22114501	G	A	G22114501A	PHEX	NM_000444.6(PHEX):c.1217G>A:p.Cys406Tyr	coding	Pathogenic
X	22114502	T	A	T22114502A	PHEX	NM_000444.6(PHEX):c.1218T>A:p.Cys406Ter	coding	Pathogenic
X	22114581	G	T	G22114581T	PHEX	NM_000444.6(PHEX):c.1297G>T:p.Glu433Ter	coding	Pathogenic
X	22114587	G	C	G22114587C	PHEX	NM_000444.6(PHEX):c.1302+1G>C	coding	Pathogenic
X	22133522	G	A	G22133522A	PHEX	NM_000444.6(PHEX):c.1303-1G>A	noncoding	Pathogenic
X	22133522	G	C	G22133522C	PHEX	NM_000444.6(PHEX):c.1303-1G>C	noncoding	Pathogenic
X	22133579	A	C	A22133579C	PHEX	NM_000444.6(PHEX):c.1359A>C:p.Glu453Asp	coding	Pathogenic
X	22133583	G	T	G22133583T	PHEX	NM_000444.6(PHEX):c.1363G>T:p.Glu455Ter	coding	Pathogenic
X	22133586	T	C	T22133586C	PHEX	NM_000444.6(PHEX):c.1366T>C:p.Trp456Arg	coding	Pathogenic/Likely_pathogenic
X	22133587	G	A	G22133587A	PHEX	NM_000444.6(PHEX):c.1367G>A:p.Trp456Ter	coding	Pathogenic
X	22133588	G	A	G22133588A	PHEX	NM_000444.6(PHEX):c.1368G>A:p.Trp456Ter	coding	Pathogenic
X	22133603	G	A	G22133603A	PHEX	NM_000444.6(PHEX):c.1383G>A:p.Thr461=	coding	Benign
X	22133619	G	T	G22133619T	PHEX	NM_000444.6(PHEX):c.1399G>T:p.Glu467Ter	coding	Pathogenic
X	22133622	A	T	A22133622T	PHEX	NM_000444.6(PHEX):c.1402A>T:p.Lys468Ter	coding	Pathogenic
X	22133624	G	C	G22133624C	PHEX	NM_000444.6(PHEX):c.1404G>C:p.Lys468Asn	coding	Pathogenic
X	22168341	T	A	T22168341A	PHEX	NM_000444.6(PHEX):c.1434T>A:p.Tyr478Ter	coding	Pathogenic
X	22168344	A	G	A22168344G	PHEX	NM_000444.6(PHEX):c.1437A>G:p.Pro479=	coding	Benign
X	22168390	G	A	G22168390A	PHEX	NM_000444.6(PHEX):c.1482+1G>A	coding	Pathogenic/Likely_pathogenic
X	22168390	G	C	G22168390C	PHEX	NM_000444.6(PHEX):c.1482+1G>C	coding	Pathogenic
X	22168390	G	T	G22168390T	PHEX-AS1;PHEX	NM_000444.6(PHEX):c.1482+1G>T	coding	Pathogenic
X	22168391	T	G	T22168391G	PHEX	NM_000444.6(PHEX):c.1482+2T>G	noncoding	Pathogenic
X	22168394	G	C	G22168394C	PHEX	NM_000444.6(PHEX):c.1482+5G>C	noncoding	Pathogenic/Likely_pathogenic
X	22178271	A	G	A22178271G	PHEX	NM_000444.6(PHEX):c.1483-2A>G	noncoding	Pathogenic
X	22178272	G	A	G22178272A	PHEX	NM_000444.6(PHEX):c.1483-1G>A	noncoding	Pathogenic
X	22178272	G	C	G22178272C	PHEX	NM_000444.6(PHEX):c.1483-1G>C	noncoding	Pathogenic
X	22178296	C	G	C22178296G	PHEX	NM_000444.6(PHEX):c.1506C>G:p.Tyr502Ter	coding	Pathogenic
X	22178313	A	C	A22178313C	PHEX	NM_000444.6(PHEX):c.1523A>C:p.Gln508Pro	coding	Pathogenic
X	22178333	C	T	C22178333T	PHEX	NM_000444.6(PHEX):c.1543C>T:p.Gln515Ter	coding	Pathogenic
X	22178377	G	A	G22178377A	PHEX	NM_000444.6(PHEX):c.1586+1G>A	coding	Pathogenic
X	22178377	G	C	G22178377C	PHEX	NM_000444.6(PHEX):c.1586+1G>C	coding	Pathogenic
X	22178377	G	T	G22178377T	PHEX	NM_000444.6(PHEX):c.1586+1G>T	coding	Pathogenic
X	22178378	T	A	T22178378A	PHEX	NM_000444.6(PHEX):c.1586+2T>A	noncoding	Pathogenic
X	22190443	G	A	G22190443A	PHEX	NM_000444.6(PHEX):c.1587-1G>A	noncoding	Pathogenic
X	22190447	G	C	G22190447C	PHEX	NM_000444.6(PHEX):c.1590G>C:p.Trp530Cys	coding	Pathogenic
X	22190458	C	T	C22190458T	PHEX	NM_000444.6(PHEX):c.1601C>T:p.Pro534Leu	coding	Pathogenic
X	22190502	C	T	C22190502T	PHEX	NM_000444.6(PHEX):c.1645C>T:p.Arg549Ter	coding	Pathogenic
X	22190503	G	A	G22190503A	PHEX	NM_000444.6(PHEX):c.1645+1G>A	coding	Pathogenic
X	22212904	G	C	G22212904C	PHEX	NM_000444.6(PHEX):c.1646G>C:p.Arg549Pro	coding	Pathogenic
X	22212918	G	T	G22212918T	PHEX	NM_000444.6(PHEX):c.1660G>T:p.Glu554Ter	coding	Pathogenic
X	22212922	T	C	T22212922C	PHEX	NM_000444.6(PHEX):c.1664T>C:p.Leu555Pro	coding	Pathogenic
X	22212924	C	T	C22212924T	PHEX	NM_000444.6(PHEX):c.1666C>T:p.Gln556Ter	coding	Pathogenic
X	22212953	T	A	T22212953A	PHEX	NM_000444.6(PHEX):c.1695T>A:p.Tyr565Ter	coding	Pathogenic
X	22212957	C	T	C22212957T	PHEX	NM_000444.6(PHEX):c.1699C>T:p.Arg567Ter	coding	Pathogenic
X	22212959	G	A	G22212959A	PHEX	NM_000444.6(PHEX):c.1700+1G>A	coding	Pathogenic
X	22212959	G	C	G22212959C	PHEX	NM_000444.6(PHEX):c.1700+1G>C	coding	Pathogenic
X	22212959	G	T	G22212959T	PHEX	NM_000444.6(PHEX):c.1700+1G>T	coding	Pathogenic
X	22212960	T	C	T22212960C	PHEX	NM_000444.6(PHEX):c.1700+2T>C	noncoding	Pathogenic
X	22219034	A	G	A22219034G	PHEX	NM_000444.6(PHEX):c.1701-2A>G	noncoding	Pathogenic
X	22219041	T	C	T22219041C	PHEX	NM_000444.6(PHEX):c.1706T>C:p.Leu569Pro	coding	Pathogenic
X	22219048	T	G	T22219048G	PHEX	NM_000444.6(PHEX):c.1713T>G:p.Tyr571Ter	coding	Pathogenic
X	22219049	G	A	G22219049A	PHEX	NM_000444.6(PHEX):c.1714G>A:p.Gly572Ser	coding	Pathogenic/Likely_pathogenic
X	22219050	G	A	G22219050A	PHEX	NM_000444.6(PHEX):c.1715G>A:p.Gly572Asp	coding	Pathogenic/Likely_pathogenic
X	22219052	G	C	G22219052C	PHEX	NM_000444.6(PHEX):c.1717G>C:p.Ala573Pro	coding	Pathogenic
X	22219053	C	A	C22219053A	PHEX	NM_000444.6(PHEX):c.1718C>A:p.Ala573Asp	coding	Pathogenic
X	22219070	G	A	G22219070A	PHEX	NM_000444.6(PHEX):c.1735G>A:p.Gly579Arg	coding	Pathogenic/Likely_pathogenic
X	22219070	G	C	G22219070C	PHEX	NM_000444.6(PHEX):c.1735G>C:p.Gly579Arg	coding	Pathogenic
X	22219076	G	T	G22219076T	PHEX	NM_000444.6(PHEX):c.1741G>T:p.Glu581Ter	coding	Pathogenic
X	22219088	G	A	G22219088A	PHEX	NM_000444.6(PHEX):c.1753G>A:p.Gly585Arg	coding	Pathogenic
X	22219089	G	A	G22219089A	PHEX	NM_000444.6(PHEX):c.1754G>A:p.Gly585Glu	coding	Pathogenic
X	22219098	A	G	A22219098G	PHEX	NM_000444.6(PHEX):c.1763A>G:p.Asn588Ser	coding	Pathogenic
X	22219104	G	A	G22219104A	PHEX	NM_000444.6(PHEX):c.1768+1G>A	coding	Pathogenic
X	22219104	G	C	G22219104C	PHEX	NM_000444.6(PHEX):c.1768+1G>C	coding	Pathogenic
X	22219104	G	T	G22219104T	PHEX;PTCHD1-AS	NM_000444.6(PHEX):c.1768+1G>T	coding	Pathogenic
X	22219105	T	G	T22219105G	PHEX	NM_000444.6(PHEX):c.1768+2T>G	noncoding	Pathogenic
X	22221603	C	T	C22221603T	PHEX	NM_000444.6(PHEX):c.1769-10C>T	noncoding	Benign
X	22221612	G	T	G22221612T	PHEX	NM_000444.6(PHEX):c.1769-1G>T	noncoding	Pathogenic
X	22221623	T	G	T22221623G	PHEX	NM_000444.6(PHEX):c.1779T>G:p.Tyr593Ter	coding	Pathogenic
X	22221633	G	T	G22221633T	PHEX	NM_000444.6(PHEX):c.1789G>T:p.Gly597Ter	coding	Pathogenic
X	22221649	G	A	G22221649A	PHEX	NM_000444.6(PHEX):c.1805G>A:p.Trp602Ter	coding	Pathogenic
X	22221650	G	A	G22221650A	PHEX	NM_000444.6(PHEX):c.1806G>A:p.Trp602Ter	coding	Pathogenic
X	22221653	G	A	G22221653A	PHEX	NM_000444.6(PHEX):c.1809G>A:p.Trp603Ter	coding	Pathogenic
X	22221669	G	T	G22221669T	PHEX	NM_000444.6(PHEX):c.1825G>T:p.Glu609Ter	coding	Pathogenic
X	22221719	T	G	T22221719G	PHEX	NM_000444.6(PHEX):c.1875T>G:p.Tyr625Ter	coding	Pathogenic/Likely_pathogenic
X	22221724	G	A	G22221724A	PHEX	NM_000444.6(PHEX):c.1880G>A:p.Trp627Ter	coding	Pathogenic
X	22221725	G	A	G22221725A	PHEX	NM_000444.6(PHEX):c.1881G>A:p.Trp627Ter	coding	Pathogenic
X	22221744	G	A	G22221744A	PHEX	NM_000444.6(PHEX):c.1899+1G>A	coding	Pathogenic
X	22221745	T	G	T22221745G	PHEX	NM_000444.6(PHEX):c.1899+2T>G	noncoding	Pathogenic
X	22226495	G	C	G22226495C	PHEX	NM_000444.6(PHEX):c.1952G>C:p.Arg651Pro	coding	Pathogenic
X	22226509	G	A	G22226509A	PHEX	NM_000444.6(PHEX):c.1965+1G>A	coding	Pathogenic
X	22227496	T	C	T22227496C	PHEX	NM_000444.6(PHEX):c.1966-11T>C	noncoding	Benign
X	22227512	C	G	C22227512G	PHEX	NM_000444.6(PHEX):c.1971C>G:p.Tyr657Ter	coding	Pathogenic
X	22227520	G	A	G22227520A	PHEX	NM_000444.6(PHEX):c.1979G>A:p.Trp660Ter	coding	Pathogenic
X	22227540	G	T	G22227540T	PHEX	NM_000444.6(PHEX):c.1999G>T:p.Gly667Ter	coding	Pathogenic/Likely_pathogenic
X	22227585	C	T	C22227585T	PHEX	NM_000444.6(PHEX):c.2044C>T:p.Gln682Ter	coding	Pathogenic
X	22227605	T	A	T22227605A	PHEX	NM_000444.6(PHEX):c.2064T>A:p.Tyr688Ter	coding	Pathogenic
X	22245331	A	G	A22245331G	PHEX;PTCHD1-AS	NM_000444.6(PHEX):c.2071-2A>G	noncoding	Pathogenic
X	22245332	G	A	G22245332A	PHEX	NM_000444.6(PHEX):c.2071-1G>A	noncoding	Pathogenic
X	22245340	G	A	G22245340A	PHEX	NM_000444.6(PHEX):c.2078G>A:p.Cys693Tyr	coding	Pathogenic
X	22245357	G	T	G22245357T	PHEX	NM_000444.6(PHEX):c.2095G>T:p.Glu699Ter	coding	Pathogenic
X	22245366	C	T	C22245366T	PHEX	NM_000444.6(PHEX):c.2104C>T:p.Arg702Ter	coding	Pathogenic
X	22245395	T	G	T22245395G	PHEX	NM_000444.6(PHEX):c.2133T>G:p.Ser711Arg	coding	Pathogenic
X	22245410	G	A	G22245410A	PHEX	NM_000444.6(PHEX):c.2147+1G>A	coding	Pathogenic
X	22245411	T	G	T22245411G	PHEX	NM_000444.6(PHEX):c.2147+2T>G	noncoding	Pathogenic
X	22245412	A	T	A22245412T	PHEX	NM_000444.6(PHEX):c.2147+3A>T	noncoding	Pathogenic
X	22247849	A	G	A22247849G	PHEX	NM_000444.6(PHEX):c.2148-2A>G	noncoding	Pathogenic
X	22247850	G	C	G22247850C	PHEX	NM_000444.6(PHEX):c.2148-1G>C	noncoding	Pathogenic
X	22247900	T	C	T22247900C	PHEX	NM_000444.6(PHEX):c.2197T>C:p.Cys733Arg	coding	Pathogenic
X	22247901	G	A	G22247901A	PHEX	NM_000444.6(PHEX):c.2198G>A:p.Cys733Tyr	coding	Pathogenic/Likely_pathogenic
X	22247901	G	C	G22247901C	PHEX	NM_000444.6(PHEX):c.2198G>C:p.Cys733Ser	coding	Pathogenic
X	22247940	G	A	G22247940A	PHEX	NM_000444.6(PHEX):c.2237G>A:p.Cys746Tyr	coding	Pathogenic
X	22247942	C	T	C22247942T	PHEX	NM_000444.6(PHEX):c.2239C>T:p.Arg747Ter	coding	Pathogenic
X	22247948	T	C	T22247948C	PHEX	NM_000444.6(PHEX):c.2245T>C:p.Trp749Arg	coding	Pathogenic
X	22248011	C	T	C22248011T	PHEX	NM_000444.6(PHEX):c.*58C>T	noncoding	Benign
X	22248171	A	C	A22248171C	PHEX	NM_000444.6(PHEX):c.*218A>C	noncoding	Benign
X	22248184	A	G	A22248184G	PHEX	NM_000444.6(PHEX):c.*231A>G	noncoding	Pathogenic/Likely_pathogenic
X	22248258	G	A	G22248258A	PHEX	NM_000444.6(PHEX):c.*305G>A	noncoding	Benign
X	22248314	T	C	T22248314C	PHEX	NM_000444.6(PHEX):c.*361T>C	noncoding	Benign
X	22248341	A	G	A22248341G	PHEX	NM_000444.6(PHEX):c.*388A>G	noncoding	Benign
X	22273089	T	A	T22273089A	CBLL2	NM_152577.4(CBLL2):c.98T>A:p.Ile33Asn	coding	Benign
X	22273530	T	A	T22273530A	CBLL2	NM_152577.4(CBLL2):c.539T>A:p.Ile180Asn	coding	Benign
X	22273636	A	C	A22273636C	CBLL2	NM_152577.4(CBLL2):c.645A>C:p.Leu215=	coding	Benign
X	22274158	G	A	G22274158A	CBLL2	NM_152577.4(CBLL2):c.1167G>A:p.Arg389=	coding	Benign
X	23000170	A	G	A23000170G	DDX53	NM_182699.4(DDX53):c.113A>G:p.His38Arg	coding	Benign
X	23000372	C	T	C23000372T	DDX53	NM_182699.4(DDX53):c.315C>T:p.Ala105=	coding	Benign
X	23000376	G	T	G23000376T	DDX53	NM_182699.4(DDX53):c.319G>T:p.Ala107Ser	coding	Benign
X	23001553	G	T	G23001553T	DDX53	NM_182699.4(DDX53):c.1496G>T:p.Gly499Val	coding	Benign
X	23001764	C	T	C23001764T	DDX53	NM_182699.4(DDX53):c.1707C>T:p.Thr569=	coding	Benign
X	23334968	G	A	G23334968A	PTCHD1	NM_173495.3(PTCHD1):c.93G>A:p.Ala31=	coding	Benign
X	23335211	C	T	C23335211T	PTCHD1	NM_173495.3(PTCHD1):c.336C>T:p.Thr112=	coding	Benign/Likely_benign
X	23379705	G	A	G23379705A	PTCHD1	NM_173495.3(PTCHD1):c.466G>A:p.Val156Ile	coding	Benign
X	23379896	C	T	C23379896T	PTCHD1	NM_173495.3(PTCHD1):c.657C>T:p.Asn219=	coding	Benign/Likely_benign
X	23380097	T	C	T23380097C	PTCHD1	NM_173495.3(PTCHD1):c.858T>C:p.Cys286=	coding	Benign
X	23392519	C	G	C23392519G	PTCHD1	NM_173495.3(PTCHD1):c.1013-12C>G	noncoding	Benign
X	23393012	C	T	C23393012T	PTCHD1	NM_173495.3(PTCHD1):c.1494C>T:p.Thr498=	coding	Benign/Likely_benign
X	23393065	T	A	T23393065A	PTCHD1	NM_173495.3(PTCHD1):c.1547T>A:p.Leu516Ter	coding	Pathogenic
X	23393835	T	G	T23393835G	PTCHD1	NM_173495.3(PTCHD1):c.2317T>G:p.Ser773Ala	coding	Benign
X	23671600	G	A	G23671600A	PRDX4	NM_006406.2(PRDX4):c.313G>A:p.Asp105Asn	coding	Benign
X	23783890	C	T	C23783890T	SAT1	NM_002970.3(SAT1):c.202+7C>T	noncoding	Benign
X	23856367	A	C	A23856367C	APOO	NM_024122.5(APOO):c.496T>G:p.Leu166Val	coding	Benign
X	23868631	A	G	A23868631G	APOO	NM_024122.5(APOO):c.350T>C:p.Ile117Thr	coding	Pathogenic
X	23988041	C	T	C23988041T	KLHL15	NM_030624.3(KLHL15):c.1695G>A:p.Pro565=	coding	Benign
X	23988416	G	C	G23988416C	KLHL15	NM_030624.3(KLHL15):c.1320C>G:p.Ser440=	coding	Benign
X	24055668	A	G	A24055668G	EIF2S3	NM_001415.4(EIF2S3):c.123A>G:p.Thr41=	coding	Benign
X	24055686	T	C	T24055686C	EIF2S3	NM_001415.4(EIF2S3):c.133+8T>C	noncoding	Benign/Likely_benign
X	24064228	T	C	T24064228C	EIF2S3	NM_001415.4(EIF2S3):c.665T>C:p.Ile222Thr	coding	Pathogenic
X	24066002	T	G	T24066002G	EIF2S3	NM_001415.4(EIF2S3):c.777T>G:p.Ile259Met	coding	Pathogenic
X	24068008	T	C	T24068008C	EIF2S3	NM_001415.4(EIF2S3):c.912T>C:p.Asp304=	coding	Benign
X	24073174	C	T	C24073174T	EIF2S3	NM_001415.4(EIF2S3):c.1266C>T:p.Ala422=	coding	Benign
X	24073222	A	G	A24073222G	EIF2S3	NM_001415.4(EIF2S3):c.1314A>G:p.Gly438=	coding	Benign
X	24179316	C	A	C24179316A	ZFX	NM_003410.4(ZFX):c.192C>A:p.Ile64=	coding	Benign
X	24210545	T	C	T24210545C	ZFX	NM_003410.4(ZFX):c.1587T>C:p.Ala529=	coding	Benign
X	24465434	T	C	T24465434C	PDK3	NM_001142386.3(PDK3):c.-22T>C	noncoding	Benign
X	24465506	G	C	G24465506C	PDK3	NM_001142386.3(PDK3):c.51G>C:p.Glu17Asp	coding	Benign
X	24498862	T	C	T24498862C	PDK3	NM_001142386.3(PDK3):c.282T>C:p.Tyr94=	coding	Benign
X	24503479	G	A	G24503479A	PDK3	NM_001142386.3(PDK3):c.473G>A:p.Arg158His	coding	Pathogenic
X	24526279	G	A	G24526279A	PDK3	NM_001142386.3(PDK3):c.750+5G>A	noncoding	Benign
X	24531778	G	A	G24531778A	PDK3	NM_001142386.3(PDK3):c.1077+8G>A	noncoding	Benign
X	24534000	G	A	G24534000A	PDK3	NM_001142386.3(PDK3):c.1149G>A:p.Thr383=	coding	Benign
X	24539144	A	C	A24539144C	PDK3	NM_001142386.3(PDK3):c.1228A>C:p.Lys410Gln	coding	Benign/Likely_benign
X	24703336	T	G	T24703336G	POLA1	NM_001330360.2(POLA1):c.254T>G:p.Ile85Ser	coding	Pathogenic
X	24704469	G	A	G24704469A	POLA1	NM_001330360.2(POLA1):c.346G>A:p.Gly116Arg	coding	Pathogenic
X	24715204	G	A	G24715204A	POLA1	NM_001330360.2(POLA1):c.525+1G>A	coding	Pathogenic
X	24717692	G	T	G24717692T	POLA1	NM_001330360.2(POLA1):c.1021G>T:p.Ala341Ser	coding	Benign
X	24723234	C	T	C24723234T	POLA1	NM_001330360.2(POLA1):c.1167C>T:p.Ile389=	coding	Benign
X	24726579	A	G	A24726579G	POLA1	NM_001330360.2(POLA1):c.1393-354A>G	noncoding	Pathogenic
X	24888118	C	T	C24888118T	POLA1	NM_001330360.2(POLA1):c.4160C>T:p.Pro1387Leu	coding	Pathogenic
X	24995899	C	T	C24995899T	POLA1	NM_001330360.2(POLA1):c.4356C>T:p.Tyr1452=	coding	Benign
X	25004755	A	T	A25004755T	ARX	NM_139058.3(ARX):c.1604T>A:p.Leu535Gln	coding	Pathogenic
X	25004838	G	T	G25004838T	ARX	NM_139058.3(ARX):c.1521C>A:p.Ala507=	coding	Benign/Likely_benign
X	25007145	G	A	G25007145A	ARX	NM_139058.3(ARX):c.1414C>T:p.Arg472Ter	coding	Pathogenic
X	25007212	G	A	G25007212A	ARX	NM_139058.3(ARX):c.1347C>T:p.Gly449=	coding	Benign
X	25007312	G	C	G25007312C	ARX	NM_139058.3(ARX):c.1247C>G:p.Ala416Gly	coding	Benign/Likely_benign
X	25007355	C	T	C25007355T	ARX	NM_139058.3(ARX):c.1204G>A:p.Gly402Arg	coding	Benign
X	25007418	C	T	C25007418T	ARX	NM_139058.3(ARX):c.1141G>A:p.Ala381Thr	coding	Pathogenic
X	25007596	G	C	G25007596C	ARX	NM_139058.3(ARX):c.1120-157C>G	noncoding	Benign
X	25010262	G	A	G25010262A	ARX	NM_139058.3(ARX):c.1117C>T:p.Gln373Ter	coding	Pathogenic
X	25010268	G	A	G25010268A	ARX	NM_139058.3(ARX):c.1111C>T:p.Arg371Ter	coding	Pathogenic
X	25010274	C	A	C25010274A	ARX	NM_139058.3(ARX):c.1105G>T:p.Glu369Ter	coding	Pathogenic
X	25010308	A	G	A25010308G	ARX	NM_139058.3(ARX):c.1074-3T>C	noncoding	Benign
X	25012937	G	A	G25012937A	ARX	NM_139058.3(ARX):c.1058C>T:p.Pro353Leu	coding	Pathogenic
X	25012967	A	T	A25012967T	ARX	NM_139058.3(ARX):c.1028T>A:p.Leu343Gln	coding	Pathogenic
X	25012997	G	C	G25012997C	ARX	NM_139058.3(ARX):c.998C>G:p.Thr333Ser	coding	Pathogenic
X	25012997	G	T	G25012997T	ARX	NM_139058.3(ARX):c.998C>A:p.Thr333Asn	coding	Pathogenic
X	25013000	C	A	C25013000A	ARX	NM_139058.3(ARX):c.995G>T:p.Arg332Leu	coding	Pathogenic
X	25013000	C	T	C25013000T	ARX	NM_139058.3(ARX):c.995G>A:p.Arg332His	coding	Pathogenic
X	25013039	G	T	G25013039T	ARX	NM_139058.3(ARX):c.956C>A:p.Ser319Ter	coding	Pathogenic
X	25013073	C	A	C25013073A	ARX	NM_139058.3(ARX):c.922G>T:p.Glu308Ter	coding	Pathogenic
X	25013188	G	A	G25013188A	ARX	NM_139058.3(ARX):c.807C>T:p.Ala269=	coding	Benign/Likely_benign
X	25013332	G	A	G25013332A	ARX	NM_139058.3(ARX):c.663C>T:p.Thr221=	coding	Benign/Likely_benign
X	25013452	G	A	G25013452A	ARX	NM_139058.3(ARX):c.543C>T:p.Pro181=	coding	Benign
X	25013470	G	C	G25013470C	ARX	NM_139058.3(ARX):c.525C>G:p.Tyr175Ter	coding	Pathogenic
X	25013528	C	T	C25013528T	ARX	NM_139058.3(ARX):c.467G>A:p.Trp156Ter	coding	Pathogenic
X	25013763	C	A	C25013763A	ARX	NM_139058.3(ARX):c.232G>T:p.Glu78Ter	coding	Pathogenic
X	25013780	C	G	C25013780G	ARX	NM_139058.3(ARX):c.215G>C:p.Ser72Thr	coding	Benign
X	25015590	A	G	A25015590G	ARX	NM_139058.3(ARX):c.148T>C:p.Leu50=	coding	Benign/Likely_benign
X	25015640	A	G	A25015640G	ARX	NM_139058.3(ARX):c.98T>C:p.Leu33Pro	coding	Pathogenic
X	25015657	G	C	G25015657C	ARX	NM_139058.3(ARX):c.81C>G:p.Tyr27Ter	coding	Pathogenic
X	25015704	C	A	C25015704A	ARX	NM_139058.3(ARX):c.34G>T:p.Glu12Ter	coding	Pathogenic
X	25015708	G	T	G25015708T	ARX	NM_139058.3(ARX):c.30C>A:p.Cys10Ter	coding	Pathogenic
X	25015820	G	T	G25015820T	ARX	NM_139058.3(ARX):c.-83C>A	noncoding	Benign
X	28588033	G	A	G28588033A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-39G>A	noncoding	Benign
X	28588061	A	C	A28588061C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-25+14A>C	noncoding	Benign
X	28789324	C	T	C28789324T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-20C>T	noncoding	Benign
X	28789325	G	A	G28789325A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-19G>A	noncoding	Benign
X	28789355	G	A	G28789355A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.12G>A:p.Pro4=	coding	Benign/Likely_benign
X	28789379	C	T	C28789379T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.36C>T:p.Tyr12=	coding	Benign
X	29282932	C	T	C29282932T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.83-6C>T	noncoding	Benign
X	29399151	A	G	A29399151G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.550-4A>G	noncoding	Benign
X	29399309	G	A	G29399309A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.703+1G>A	coding	Pathogenic
X	29668452	C	A	C29668452A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.726C>A:p.Pro242=	coding	Benign
X	29920091	C	T	C29920091T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1054C>T:p.Arg352Ter	coding	Pathogenic
X	29941682	C	T	C29941682T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1089C>T:p.Gly363=	coding	Benign
X	29941729	A	G	A29941729G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1136A>G:p.Lys379Arg	coding	Benign
X	29941784	G	A	G29941784A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1191G>A:p.Glu397=	coding	Benign
X	29955106	C	A	C29955106A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1377C>A:p.Tyr459Ter	coding	Pathogenic
X	29955172	C	T	C29955172T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1443C>T:p.Tyr481=	coding	Benign
X	29955189	G	A	G29955189A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1460G>A:p.Trp487Ter	coding	Pathogenic
X	29955334	G	T	G29955334T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1605G>T:p.Thr535=	coding	Benign
X	29955688	T	C	T29955688C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1959T>C:p.Pro653=	coding	Benign
X	29955778	G	A	G29955778A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.2049G>A:p.Pro683=	coding	Benign
X	29955796	C	G	C29955796G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.2067C>G:p.Thr689=	coding	Benign/Likely_benign
X	30218887	A	G	A30218887G	MAGEB2	NM_002364.5(MAGEB2):c.307A>G:p.Thr103Ala	coding	Benign
X	30236842	G	T	G30236842T	MAGEB3	NM_002365.4(MAGEB3):c.918G>T:p.Trp306Cys	coding	Benign
X	30242191	G	A	G30242191A	MAGEB4	NM_002367.4(MAGEB4):c.56G>A:p.Arg19His	coding	Benign
X	30242210	C	T	C30242210T	MAGEB4	NM_002367.4(MAGEB4):c.75C>T:p.Leu25=	coding	Benign
X	30242489	G	A	G30242489A	MAGEB4	NM_002367.4(MAGEB4):c.354G>A:p.Gln118=	coding	Benign
X	30242934	C	A	C30242934A	MAGEB4	NM_002367.4(MAGEB4):c.799C>A:p.Arg267Ser	coding	Benign
X	30243124	T	C	T30243124C	MAGEB4	NM_002367.4(MAGEB4):c.989T>C:p.Met330Thr	coding	Benign
X	30251025	G	A	G30251025A	MAGEB1	NM_002363.5(MAGEB1):c.532G>A:p.Val178Ile	coding	Benign
X	30304652	A	G	A30304652G	NR0B1	NM_000475.5(NR0B1):c.1340T>C:p.Leu447Pro	coding	Pathogenic
X	30304673	T	A	T30304673A	NR0B1	NM_000475.5(NR0B1):c.1319A>T:p.Asn440Ile	coding	Pathogenic
X	30304676	A	C	A30304676C	NR0B1	NM_000475.5(NR0B1):c.1316T>G:p.Ile439Ser	coding	Pathogenic
X	30304718	C	A	C30304718A	NR0B1	NM_000475.5(NR0B1):c.1274G>T:p.Arg425Ile	coding	Pathogenic
X	30304795	G	T	G30304795T	NR0B1	NM_000475.5(NR0B1):c.1197C>A:p.Tyr399Ter	coding	Pathogenic
X	30304809	G	A	G30304809A	NR0B1	NM_000475.5(NR0B1):c.1183C>T:p.Gln395Ter	coding	Pathogenic
X	30304824	C	T	C30304824T	NR0B1	NM_000475.5(NR0B1):c.1169-1G>A	coding	Pathogenic
X	30308218	C	A	C30308218A	NR0B1	NM_000475.5(NR0B1):c.1146G>T:p.Lys382Asn	coding	Pathogenic
X	30308222	A	T	A30308222T	NR0B1	NM_000475.5(NR0B1):c.1142T>A:p.Leu381His	coding	Pathogenic
X	30308223	G	A	G30308223A	NR0B1	NM_000475.5(NR0B1):c.1141C>T:p.Leu381Phe	coding	Pathogenic/Likely_pathogenic
X	30308226	A	C	A30308226C	NR0B1	NM_000475.5(NR0B1):c.1138T>G:p.Tyr380Asp	coding	Pathogenic
X	30308257	C	T	C30308257T	NR0B1	NM_000475.5(NR0B1):c.1107G>A:p.Trp369Ter	coding	Pathogenic
X	30308335	C	T	C30308335T	NR0B1	NM_000475.5(NR0B1):c.1029G>A:p.Leu343=	coding	Benign
X	30308371	G	A	G30308371A	NR0B1	NM_000475.5(NR0B1):c.993C>T:p.Asn331=	coding	Benign
X	30308412	G	A	G30308412A	NR0B1	NM_000475.5(NR0B1):c.952C>T:p.Gln318Ter	coding	Pathogenic
X	30308445	C	A	C30308445A	NR0B1	NM_000475.5(NR0B1):c.919G>T:p.Glu307Ter	coding	Pathogenic
X	30308463	G	A	G30308463A	NR0B1	NM_000475.5(NR0B1):c.901C>T:p.Gln301Ter	coding	Pathogenic
X	30308474	A	G	A30308474G	NR0B1	NM_000475.5(NR0B1):c.890T>C:p.Leu297Pro	coding	Pathogenic
X	30308491	C	G	C30308491G	NR0B1	NM_000475.5(NR0B1):c.873G>C:p.Trp291Cys	coding	Pathogenic
X	30308492	C	G	C30308492G	NR0B1	NM_000475.5(NR0B1):c.872G>C:p.Trp291Ser	coding	Pathogenic
X	30308493	A	G	A30308493G	NR0B1	NM_000475.5(NR0B1):c.871T>C:p.Trp291Arg	coding	Pathogenic
X	30308494	G	A	G30308494A	NR0B1	NM_000475.5(NR0B1):c.870C>T:p.Cys290=	coding	Benign
X	30308517	G	A	G30308517A	NR0B1	NM_000475.5(NR0B1):c.847C>T:p.Gln283Ter	coding	Pathogenic
X	30308520	G	A	G30308520A	NR0B1	NM_000475.5(NR0B1):c.844C>T:p.Gln282Ter	coding	Pathogenic
X	30308542	G	T	G30308542T	NR0B1	NM_000475.5(NR0B1):c.822C>A:p.Cys274Ter	coding	Pathogenic
X	30308551	G	C	G30308551C	NR0B1	NM_000475.5(NR0B1):c.813C>G:p.Tyr271Ter	coding	Pathogenic
X	30308558	A	T	A30308558T	NR0B1	NM_000475.5(NR0B1):c.806T>A:p.Val269Asp	coding	Pathogenic
X	30308564	C	G	C30308564G	NR0B1	NM_000475.5(NR0B1):c.800G>C:p.Arg267Pro	coding	Pathogenic
X	30308576	A	T	A30308576T	NR0B1	NM_000475.5(NR0B1):c.788T>A:p.Leu263Ter	coding	Pathogenic
X	30308591	G	T	G30308591T	NR0B1	NM_000475.5(NR0B1):c.773C>A:p.Ala258Asp	coding	Pathogenic
X	30308599	G	T	G30308599T	NR0B1	NM_000475.5(NR0B1):c.765C>A:p.Cys255Ter	coding	Pathogenic
X	30308656	C	T	C30308656T	NR0B1	NM_000475.5(NR0B1):c.708G>A:p.Trp236Ter	coding	Pathogenic
X	30308660	C	T	C30308660T	NR0B1	NM_000475.5(NR0B1):c.704G>A:p.Trp235Ter	coding	Pathogenic
X	30308739	G	A	G30308739A	NR0B1	NM_000475.5(NR0B1):c.625C>T:p.Gln209Ter	coding	Pathogenic
X	30308764	G	C	G30308764C	NR0B1	NM_000475.5(NR0B1):c.600C>G:p.Cys200Trp	coding	Benign
X	30308773	G	T	G30308773T	NR0B1	NM_000475.5(NR0B1):c.591C>A:p.Tyr197Ter	coding	Pathogenic
X	30308776	C	T	C30308776T	NR0B1	NM_000475.5(NR0B1):c.588G>A:p.Leu196=	coding	Benign
X	30308819	C	G	C30308819G	NR0B1	NM_000475.5(NR0B1):c.545G>C:p.Gly182Ala	coding	Benign
X	30308836	G	C	G30308836C	NR0B1	NM_000475.5(NR0B1):c.528C>G:p.Tyr176Ter	coding	Pathogenic
X	30308848	C	T	C30308848T	NR0B1	NM_000475.5(NR0B1):c.516G>A:p.Trp172Ter	coding	Pathogenic
X	30308849	C	T	C30308849T	NR0B1	NM_000475.5(NR0B1):c.515G>A:p.Trp172Ter	coding	Pathogenic
X	30308851	C	T	C30308851T	NR0B1	NM_000475.5(NR0B1):c.513G>A:p.Trp171Ter	coding	Pathogenic
X	30308866	C	T	C30308866T	NR0B1	NM_000475.5(NR0B1):c.498G>A:p.Arg166=	coding	Benign
X	30308985	C	T	C30308985T	NR0B1	NM_000475.5(NR0B1):c.379G>A:p.Ala127Thr	coding	Benign
X	30309037	G	T	G30309037T	NR0B1	NM_000475.5(NR0B1):c.327C>A:p.Cys109Ter	coding	Pathogenic
X	30309049	C	T	C30309049T	NR0B1	NM_000475.5(NR0B1):c.315G>A:p.Trp105Ter	coding	Pathogenic
X	30309091	G	T	G30309091T	NR0B1	NM_000475.5(NR0B1):c.273C>A:p.Tyr91Ter	coding	Pathogenic
X	30309212	C	T	C30309212T	NR0B1	NM_000475.5(NR0B1):c.152G>A:p.Arg51Lys	coding	Benign
X	30309248	C	T	C30309248T	NR0B1	NM_000475.5(NR0B1):c.116G>A:p.Trp39Ter	coding	Pathogenic
X	30309250	G	A	G30309250A	NR0B1	NM_000475.5(NR0B1):c.114C>T:p.Cys38=	coding	Benign
X	30309255	G	A	G30309255A	NR0B1	NM_000475.5(NR0B1):c.109C>T:p.Gln37Ter	coding	Pathogenic
X	30309348	G	T	G30309348T	NR0B1	NM_000475.5(NR0B1):c.16C>A:p.His6Asn	coding	Benign/Likely_benign
X	30668024	G	A	G30668024A	GK	NM_000167.5(GK):c.165G>A:p.Gln55=	coding	Benign
X	30668045	T	C	T30668045C	GK	NM_000167.5(GK):c.186T>C:p.His62=	coding	Benign
X	30668120	T	C	T30668120C	GK	NM_000167.5(GK):c.259+2T>C	noncoding	Pathogenic
X	30691157	G	A	G30691157A	GK	NM_000167.5(GK):c.372G>A:p.Glu124=	coding	Benign
X	30694486	C	T	C30694486T	GK	NM_000167.5(GK):c.501C>T:p.Ala167=	coding	Benign
X	30694499	C	T	C30694499T	GK	NM_000167.5(GK):c.514C>T:p.Arg172Ter	coding	Pathogenic
X	30696041	G	C	G30696041C	GK	NM_000167.5(GK):c.553-1G>C	noncoding	Pathogenic
X	30700409	A	T	A30700409T	GK	NM_000167.5(GK):c.730-5A>T	noncoding	Benign/Likely_benign
X	30707584	A	G	A30707584G	GK	NM_000167.5(GK):c.862A>G:p.Asn288Asp	coding	Pathogenic
X	30719477	G	A	G30719477A	GK	NM_000167.5(GK):c.1095G>A:p.Ser365=	coding	Benign/Likely_benign
X	30720639	C	T	C30720639T	GK	NM_000167.5(GK):c.1237C>T:p.Arg413Ter	coding	Pathogenic
X	30720721	A	T	A30720721T	GK	NM_000167.5(GK):c.1319A>T:p.Asp440Val	coding	Pathogenic
X	30720761	T	C	T30720761C	GK	NM_000167.5(GK):c.1339+20T>C	noncoding	Benign
X	30724124	T	C	T30724124C	GK	NM_000167.5(GK):c.1507T>C:p.Trp503Arg	coding	Pathogenic
X	30724144	G	A	G30724144A	GK	NM_000167.5(GK):c.1527G>A:p.Lys509=	coding	Benign
X	30842988	T	C	T30842988C	TAB3	NM_152787.5(TAB3):c.1866A>G:p.Val622=	coding	Benign
X	30855128	C	T	C30855128T	TAB3	NM_152787.5(TAB3):c.537G>A:p.Pro179=	coding	Benign
X	31120120	C	A	C31120120A	DMD	NM_004006.3(DMD):c.*1799G>T	noncoding	Benign
X	31120136	T	C	T31120136C	DMD	NM_004006.2(DMD):c.*1783A>G	noncoding	Benign
X	31120188	T	G	T31120188G	DMD	NM_004006.2(DMD):c.*1731A>C	noncoding	Benign
X	31120281	T	C	T31120281C	DMD	NM_004006.2(DMD):c.*1638A>G	noncoding	Benign
X	31120472	T	C	T31120472C	DMD	NM_004006.2(DMD):c.*1447A>G	noncoding	Benign
X	31120634	G	T	G31120634T	DMD	NM_004006.2(DMD):c.*1285C>A	noncoding	Benign
X	31121110	G	A	G31121110A	DMD	NM_004006.3(DMD):c.*809C>T	noncoding	Benign
X	31121881	C	T	C31121881T	DMD	NM_004006.3(DMD):c.*38G>A	coding	Benign
X	31122179	T	A	T31122179A	DMD	NM_004006.2(DMD):c.11047-249A>T	noncoding	Benign
X	31126523	T	C	T31126523C	DMD	NM_004006.2(DMD):c.11046+119A>G	noncoding	Benign
X	31133820	T	C	T31133820C	DMD	NM_004006.2(DMD):c.11014+282A>G	noncoding	Benign
X	31146108	T	C	T31146108C	DMD	NM_004006.2(DMD):c.10921+183A>G	noncoding	Benign
X	31146158	G	A	G31146158A	DMD	NM_004006.2(DMD):c.10921+133C>T	noncoding	Benign
X	31146376	G	A	G31146376A	DMD	NM_004006.2(DMD):c.10836C>T:p.Ser3612=	coding	Benign/Likely_benign
X	31146399	T	A	T31146399A	DMD	NM_004006.3(DMD):c.10813A>T:p.Lys3605Ter	coding	Pathogenic
X	31146514	C	G	C31146514G	DMD	NM_004006.2(DMD):c.10798-100G>C	noncoding	Benign
X	31146524	T	G	T31146524G	DMD	NM_004006.2(DMD):c.10798-110A>C	noncoding	Benign
X	31146603	A	G	A31146603G	DMD	NM_004006.2(DMD):c.10798-189T>C	noncoding	Benign
X	31147140	T	C	T31147140C	DMD	NM_004006.2(DMD):c.10797+135A>G	noncoding	Benign
X	31147193	C	T	C31147193T	DMD	NM_004006.2(DMD):c.10797+82G>A	noncoding	Benign
X	31147270	C	T	C31147270T	DMD	NM_004006.2(DMD):c.10797+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	31147273	A	T	A31147273T	DMD	NM_004006.3(DMD):c.10797+2T>A	noncoding	Pathogenic
X	31147274	C	T	C31147274T	DMD	NM_004006.2(DMD):c.10797+1G>A	noncoding	Pathogenic
X	31147283	G	A	G31147283A	DMD	NM_004006.3(DMD):c.10789C>T:p.Leu3597=	coding	Benign/Likely_benign
X	31147289	G	A	G31147289A	DMD	NM_004006.2(DMD):c.10783C>T:p.Gln3595Ter	coding	Pathogenic
X	31147307	G	A	G31147307A	DMD	NM_004006.2(DMD):c.10765C>T:p.Gln3589Ter	coding	Pathogenic
X	31147421	G	A	G31147421A	DMD	NM_004006.2(DMD):c.10651C>T:p.Gln3551Ter	coding	Pathogenic
X	31147495	C	T	C31147495T	DMD	NM_004006.2(DMD):c.10577G>A:p.Arg3526His	coding	Benign
X	31147500	A	T	A31147500T	DMD	NM_000109.4(DMD):c.10548T>A:p.Tyr3516Ter	coding	Pathogenic
X	31147520	T	C	T31147520C	DMD	NM_000109.4(DMD):c.10530-2A>G	noncoding	Pathogenic
X	31147779	A	G	A31147779G	DMD	NM_004006.2(DMD):c.10554-261T>C	noncoding	Benign
X	31169450	C	A	C31169450A	DMD	NM_004006.2(DMD):c.10546G>T:p.Glu3516Ter	coding	Pathogenic
X	31169477	C	A	C31169477A	DMD	NM_004020.3(DMD):c.2843+9192G>T	coding	Pathogenic
X	31169492	C	A	C31169492A	DMD	NM_004006.2(DMD):c.10504G>T:p.Glu3502Ter	coding	Pathogenic
X	31169519	G	A	G31169519A	DMD	NM_004006.2(DMD):c.10477C>T:p.Gln3493Ter	coding	Pathogenic
X	31169567	G	A	G31169567A	DMD	NM_004006.3(DMD):c.10429C>T:p.Gln3477Ter	coding	Pathogenic
X	31169584	A	C	A31169584C	DMD	NM_004006.2(DMD):c.10412T>G:p.Leu3471Ter	coding	Pathogenic
X	31169602	C	T	C31169602T	DMD	NM_004006.3(DMD):c.10395-1G>A	coding	Pathogenic
X	31173563	G	C	G31173563C	DMD	NM_004006.3(DMD):c.10304C>G:p.Ser3435Ter	coding	Pathogenic
X	31173588	G	A	G31173588A	DMD	NM_004020.3(DMD):c.2843+5081C>T	coding	Pathogenic
X	31177946	C	T	C31177946T	DMD	NM_004006.3(DMD):c.10248G>A:p.Trp3416Ter	coding	Pathogenic
X	31177947	C	T	C31177947T	DMD	NM_004006.2(DMD):c.10247G>A:p.Trp3416Ter	coding	Pathogenic/Likely_pathogenic
X	31178071	A	G	A31178071G	DMD	NM_004006.2(DMD):c.10224-101T>C	noncoding	Benign
X	31178448	C	T	C31178448T	DMD	NM_004006.2(DMD):c.10223+221G>A	coding	Benign
X	31178668	C	G	C31178668G	DMD	NM_004006.2(DMD):c.10223+1G>C	coding	Pathogenic
X	31178668	C	T	C31178668T	DMD	NM_000109.4(DMD):c.10199+1G>A	coding	Pathogenic
X	31178710	G	T	G31178710T	DMD	NM_004006.2(DMD):c.10182C>A:p.Tyr3394Ter	coding	Pathogenic
X	31178721	G	A	G31178721A	DMD	NM_004006.2(DMD):c.10171C>T:p.Arg3391Ter	coding	Pathogenic
X	31178751	G	A	G31178751A	DMD	NM_004006.2(DMD):c.10141C>T:p.Arg3381Ter	coding	Pathogenic
X	31178784	G	A	G31178784A	DMD	NM_004006.2(DMD):c.10108C>T:p.Arg3370Ter	coding	Pathogenic
X	31178806	C	T	C31178806T	DMD	NM_004006.3(DMD):c.10087-1G>A	coding	Pathogenic
X	31178807	T	C	T31178807C	DMD	NM_000109.4(DMD):c.10063-2A>G	noncoding	Pathogenic
X	31178825	G	A	G31178825A	DMD	NM_004006.2(DMD):c.10087-20C>T	noncoding	Benign/Likely_benign
X	31178829	T	C	T31178829C	DMD	NM_000109.4(DMD):c.10063-24A>G	noncoding	Benign
X	31178944	G	C	G31178944C	DMD	NM_004006.2(DMD):c.10087-139C>G	noncoding	Benign
X	31180087	A	G	A31180087G	DMD	NM_004006.2(DMD):c.10086+283T>C	noncoding	Benign
X	31180369	C	A	C31180369A	DMD	NM_000109.4(DMD):c.10062+1G>T	noncoding	Pathogenic
X	31180369	C	T	C31180369T	DMD	NM_004006.2(DMD):c.10086+1G>A	noncoding	Pathogenic
X	31180379	A	C	A31180379C	DMD	NM_004006.3(DMD):c.10077T>G:p.Tyr3359Ter	coding	Pathogenic
X	31180394	A	T	A31180394T	DMD	NM_000109.4(DMD):c.10038T>A:p.Tyr3346Ter	coding	Pathogenic
X	31180423	G	A	G31180423A	DMD	NM_004006.2(DMD):c.10033C>T:p.Arg3345Ter	coding	Pathogenic
X	31180437	C	T	C31180437T	DMD	NM_000109.4(DMD):c.9995G>A:p.Cys3332Tyr	coding	Pathogenic
X	31180478	G	C	G31180478C	DMD	NM_000109.4(DMD):c.9954C>G:p.Tyr3318Ter	coding	Pathogenic
X	31180482	C	T	C31180482T	DMD	NM_004006.2(DMD):c.9975-1G>A	coding	Pathogenic
X	31180483	T	G	T31180483G	DMD	NM_004006.2(DMD):c.9975-2A>C	noncoding	Pathogenic
X	31182563	A	T	A31182563T	DMD	NM_004006.2(DMD):c.9974+175T>A	noncoding	Pathogenic
X	31182784	G	A	G31182784A	DMD	NM_004006.2(DMD):c.9928C>T:p.Gln3310Ter	coding	Pathogenic
X	31182844	G	A	G31182844A	DMD	NM_004006.3(DMD):c.9868C>T:p.Gln3290Ter	coding	Pathogenic
X	31182850	C	A	C31182850A	DMD	NM_004006.2(DMD):c.9862G>T:p.Glu3288Ter	coding	Pathogenic
X	31182860	C	T	C31182860T	DMD	NM_004006.3(DMD):c.9852G>A:p.Trp3284Ter	coding	Pathogenic
X	31182906	T	A	T31182906A	DMD	NM_004006.3(DMD):c.9808-2A>T	noncoding	Pathogenic
X	31203743	G	C	G31203743C	DMD	NM_004006.2(DMD):c.9807+218C>G	noncoding	Benign
X	31203960	C	A	C31203960A	DMD	NM_000109.4(DMD):c.9783+1G>T	noncoding	Pathogenic
X	31203964	T	C	T31203964C	DMD	NM_004006.2(DMD):c.9804A>G:p.Gln3268=	coding	Benign/Likely_benign
X	31204041	G	A	G31204041A	DMD	NM_000109.4(DMD):c.9703C>T:p.Gln3235Ter	coding	Pathogenic
X	31204077	G	A	G31204077A	DMD	NM_004006.2(DMD):c.9691C>T:p.Gln3231Ter	coding	Pathogenic
X	31204086	A	G	A31204086G	DMD	NM_004006.3(DMD):c.9682T>C:p.Phe3228Leu	coding	Benign/Likely_benign
X	31204120	T	C	T31204120C	DMD	NM_000109.4(DMD):c.9626-2A>G	noncoding	Pathogenic
X	31204391	C	T	C31204391T	DMD	NM_004006.2(DMD):c.9650-273G>A	noncoding	Benign
X	31206567	A	G	A31206567G	DMD	NM_004006.3(DMD):c.9649+15T>C	noncoding	Benign
X	31206577	C	G	C31206577G	DMD	NM_004006.3(DMD):c.9649+5G>C	noncoding	Pathogenic
X	31206581	C	T	C31206581T	DMD	NM_004006.2(DMD):c.9649+1G>A	noncoding	Pathogenic
X	31206597	C	A	C31206597A	DMD	NM_004006.2(DMD):c.9634G>T:p.Glu3212Ter	coding	Pathogenic
X	31206610	A	T	A31206610T	DMD	NM_004006.2(DMD):c.9621T>A:p.Cys3207Ter	coding	Pathogenic
X	31206663	G	A	G31206663A	DMD	NM_004006.2(DMD):c.9568C>T:p.Arg3190Ter	coding	Pathogenic
X	31206668	C	T	C31206668T	DMD	NM_000109.4(DMD):c.9540-1G>A	coding	Pathogenic
X	31206669	T	C	T31206669C	DMD	NM_004006.3(DMD):c.9564-2A>G	noncoding	Pathogenic
X	31206764	G	A	G31206764A	DMD	NM_004006.2(DMD):c.9564-97C>T	noncoding	Benign
X	31206877	A	G	A31206877G	DMD	NM_004006.2(DMD):c.9564-210T>C	noncoding	Benign
X	31206953	C	T	C31206953T	DMD	NM_004006.2(DMD):c.9564-286G>A	noncoding	Benign
X	31206954	A	G	A31206954G	DMD	NM_004006.2(DMD):c.9564-287T>C	noncoding	Benign
X	31207382	A	G	A31207382G	DMD	NM_004006.2(DMD):c.9564-715T>C	noncoding	Benign
X	31208348	T	C	T31208348C	DMD	NM_004006.2(DMD):c.9563+1150A>G	noncoding	Benign
X	31209496	A	T	A31209496T	DMD	NM_004006.2(DMD):c.9563+2T>A	noncoding	Pathogenic
X	31209497	C	A	C31209497A	DMD	NM_004006.3(DMD):c.9563+1G>T	noncoding	Pathogenic
X	31209497	C	T	C31209497T	DMD	NM_004006.2(DMD):c.9563+1G>A	noncoding	Pathogenic
X	31209501	T	C	T31209501C	DMD	NM_000109.4(DMD):c.9536A>G:p.Asp3179Gly	coding	Pathogenic
X	31209575	C	T	C31209575T	DMD	NM_004006.2(DMD):c.9486G>A:p.Glu3162=	coding	Benign/Likely_benign
X	31209651	T	C	T31209651C	DMD	NM_004006.2(DMD):c.9410A>G:p.Asn3137Ser	coding	Benign
X	31209681	G	T	G31209681T	DMD	NM_004006.3(DMD):c.9380C>A:p.Ser3127Ter	coding	Pathogenic
X	31210638	G	A	G31210638A	DMD	NM_004006.2(DMD):c.9362-939C>T	noncoding	Benign
X	31210848	T	C	T31210848C	DMD	NM_004006.2(DMD):c.9362-1149A>G	noncoding	Benign
X	31222788	C	A	C31222788A	DMD	NM_004006.2(DMD):c.9361+259G>T	noncoding	Benign
X	31222909	A	G	A31222909G	DMD	NM_004006.2(DMD):c.9361+138T>C	noncoding	Benign
X	31223046	C	G	C31223046G	DMD	NM_000109.4(DMD):c.9337+1G>C	noncoding	Pathogenic
X	31223046	C	T	C31223046T	DMD	NM_004006.2(DMD):c.9361+1G>A	noncoding	Pathogenic
X	31223071	G	A	G31223071A	DMD	NM_004006.2(DMD):c.9337C>T:p.Arg3113Ter	coding	Pathogenic
X	31261154	T	C	T31261154C	DMD	NM_004006.2(DMD):c.9225-138A>G	noncoding	Benign
X	31261301	T	C	T31261301C	DMD	NM_004006.2(DMD):c.9225-285A>G	noncoding	Pathogenic/Likely_pathogenic
X	31261317	A	G	A31261317G	DMD	NM_004006.2(DMD):c.9225-301T>C	noncoding	Benign
X	31261619	A	C	A31261619C	DMD	NM_004006.2(DMD):c.9225-603T>G	noncoding	Benign
X	31261661	A	G	A31261661G	DMD	NM_004006.2(DMD):c.9225-645T>C	noncoding	Benign
X	31261663	T	C	T31261663C	DMD	NM_004006.2(DMD):c.9225-647A>G	noncoding	Pathogenic/Likely_pathogenic
X	31261691	T	C	T31261691C	DMD	NM_004006.2(DMD):c.9225-675A>G	noncoding	Benign
X	31314141	C	A	C31314141A	DMD	NM_004006.2(DMD):c.9224+9457G>T	noncoding	Benign
X	31314177	C	T	C31314177T	DMD	NM_004006.2(DMD):c.9224+9421G>A	noncoding	Benign
X	31323334	A	T	A31323334T	DMD	NM_004006.2(DMD):c.9224+264T>A	noncoding	Benign
X	31323597	C	T	C31323597T	DMD	NM_004006.2(DMD):c.9224+1G>A	noncoding	Pathogenic
X	31323606	G	C	G31323606C	DMD	NM_000109.4(DMD):c.9192C>G:p.Tyr3064Ter	coding	Pathogenic
X	31323625	G	T	G31323625T	DMD	NM_004006.2(DMD):c.9197C>A:p.Ser3066Ter	coding	Pathogenic
X	31323639	C	T	C31323639T	DMD	NM_004006.2(DMD):c.9183G>A:p.Trp3061Ter	coding	Pathogenic
X	31323659	C	G	C31323659G	DMD	NM_000109.4(DMD):c.9140-1G>C	coding	Pathogenic
X	31323803	T	C	T31323803C	DMD	NM_004006.2(DMD):c.9164-145A>G	noncoding	Benign
X	31348367	C	A	C31348367A	DMD	NM_004006.2(DMD):c.9163+189G>T	noncoding	Benign
X	31348554	A	C	A31348554C	DMD	NM_004006.2(DMD):c.9163+2T>G	noncoding	Pathogenic
X	31348571	G	A	G31348571A	DMD	NM_004006.2(DMD):c.9148C>T:p.Gln3050Ter	coding	Pathogenic
X	31348619	G	A	G31348619A	DMD	NM_004006.2(DMD):c.9100C>T:p.Arg3034Ter	coding	Pathogenic
X	31348625	C	A	C31348625A	DMD	NM_004006.2(DMD):c.9094G>T:p.Glu3032Ter	coding	Pathogenic
X	31363920	C	T	C31363920T	DMD	NM_004006.2(DMD):c.9085-15286G>A	noncoding	Benign
X	31364173	C	T	C31364173T	DMD	NM_004006.2(DMD):c.9085-15539G>A	noncoding	Benign
X	31444543	G	A	G31444543A	DMD	NM_004006.3(DMD):c.9022C>T:p.Gln3008Ter	coding	Pathogenic
X	31444592	G	A	G31444592A	DMD	NM_004006.2(DMD):c.8973C>T:p.Asn2991=	coding	Benign
X	31444620	C	T	C31444620T	DMD	NM_004006.2(DMD):c.8945G>A:p.Arg2982Gln	coding	Benign
X	31444621	G	A	G31444621A	DMD	NM_004006.2(DMD):c.8944C>T:p.Arg2982Ter	coding	Pathogenic
X	31478105	C	A	C31478105A	DMD	NM_000109.4(DMD):c.8913+1G>T	noncoding	Pathogenic
X	31478105	C	G	C31478105G	DMD	NM_004006.3(DMD):c.8937+1G>C	noncoding	Pathogenic
X	31478118	G	A	G31478118A	DMD	NM_004006.2(DMD):c.8925C>T:p.Leu2975=	coding	Benign
X	31478129	G	A	G31478129A	DMD	NM_004006.2(DMD):c.8914C>T:p.Gln2972Ter	coding	Pathogenic
X	31478162	G	A	G31478162A	DMD	NM_004006.2(DMD):c.8881C>T:p.Gln2961Ter	coding	Pathogenic
X	31478163	C	T	C31478163T	DMD	NM_000109.4(DMD):c.8856G>A:p.Trp2952Ter	coding	Pathogenic
X	31478219	C	A	C31478219A	DMD	NM_004006.2(DMD):c.8824G>T:p.Ala2942Ser	coding	Benign
X	31478222	C	A	C31478222A	DMD	NM_004006.3(DMD):c.8821G>T:p.Glu2941Ter	coding	Pathogenic
X	31478233	C	T	C31478233T	DMD	NM_004006.3(DMD):c.8810G>A:p.Arg2937Gln	coding	Benign
X	31478243	C	A	C31478243A	DMD	NM_004006.2(DMD):c.8800G>T:p.Glu2934Ter	coding	Pathogenic
X	31478261	T	A	T31478261A	DMD	NM_000109.4(DMD):c.8758A>T:p.Lys2920Ter	coding	Pathogenic
X	31478268	C	T	C31478268T	DMD	NM_004006.2(DMD):c.8775G>A:p.Trp2925Ter	coding	Pathogenic
X	31478280	G	A	G31478280A	DMD	NM_004006.2(DMD):c.8763C>T:p.His2921=	coding	Benign
X	31478281	T	C	T31478281C	DMD	NM_004006.3(DMD):c.8762A>G:p.His2921Arg	coding	Benign/Likely_benign
X	31478299	C	T	C31478299T	DMD	NM_004006.3(DMD):c.8744G>A:p.Trp2915Ter	coding	Pathogenic
X	31478309	T	C	T31478309C	DMD	NM_004006.3(DMD):c.8734A>G:p.Asn2912Asp	coding	Benign/Likely_benign
X	31478314	T	A	T31478314A	DMD	NM_004006.3(DMD):c.8729A>T:p.Glu2910Val	coding	Benign/Likely_benign
X	31478330	G	A	G31478330A	DMD	NM_004006.2(DMD):c.8713C>T:p.Arg2905Ter	coding	Pathogenic
X	31478363	C	A	C31478363A	DMD	NM_000109.4(DMD):c.8656G>T:p.Glu2886Ter	coding	Pathogenic
X	31478375	C	G	C31478375G	DMD	NM_000109.4(DMD):c.8645-1G>C	coding	Pathogenic
X	31478376	T	A	T31478376A	DMD	NM_004006.3(DMD):c.8669-2A>T	noncoding	Pathogenic
X	31478376	T	G	T31478376G	DMD	NM_000109.4(DMD):c.8645-2A>C	noncoding	Pathogenic
X	31478449	G	C	G31478449C	DMD	NM_000109.4(DMD):c.8645-75C>G	noncoding	Benign
X	31478774	G	A	G31478774A	DMD	NM_004006.2(DMD):c.8668+209C>T	noncoding	Benign
X	31478964	T	C	T31478964C	DMD	NM_004006.2(DMD):c.8668+19A>G	noncoding	Benign
X	31478995	G	A	G31478995A	DMD	NM_004006.2(DMD):c.8656C>T:p.Gln2886Ter	coding	Pathogenic
X	31478996	G	T	G31478996T	DMD	NM_004006.2(DMD):c.8655C>A:p.Tyr2885Ter	coding	Pathogenic
X	31479004	T	A	T31479004A	DMD	NM_000109.4(DMD):c.8623A>T:p.Lys2875Ter	coding	Pathogenic
X	31479025	G	A	G31479025A	DMD	NM_004006.3(DMD):c.8626C>T:p.Gln2876Ter	coding	Pathogenic
X	31479043	G	A	G31479043A	DMD	NM_004006.2(DMD):c.8608C>T:p.Arg2870Ter	coding	Pathogenic
X	31479076	C	A	C31479076A	DMD	NM_004006.2(DMD):c.8575G>T:p.Glu2859Ter	coding	Pathogenic
X	31479080	A	G	A31479080G	DMD	NM_004006.2(DMD):c.8571T>C:p.Thr2857=	coding	Benign/Likely_benign
X	31479104	C	G	C31479104G	DMD	NM_000109.4(DMD):c.8524-1G>C	coding	Pathogenic
X	31479353	T	C	T31479353C	DMD	NM_004006.2(DMD):c.8548-250A>G	noncoding	Benign
X	31496635	G	A	G31496635A	DMD	NM_004006.2(DMD):c.8547+153C>T	noncoding	Benign
X	31496811	G	A	G31496811A	DMD	NM_004006.2(DMD):c.8524C>T:p.Gln2842Ter	coding	Pathogenic
X	31496875	C	T	C31496875T	DMD	NM_004006.3(DMD):c.8460G>A:p.Trp2820Ter	coding	Pathogenic
X	31496892	G	A	G31496892A	DMD	NM_004006.2(DMD):c.8443C>T:p.Gln2815Ter	coding	Pathogenic
X	31496945	C	T	C31496945T	DMD	NM_004006.3(DMD):c.8391-1G>A	coding	Pathogenic
X	31496946	T	C	T31496946C	DMD	NM_000109.4(DMD):c.8367-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	31497231	A	G	A31497231G	DMD	NM_004006.2(DMD):c.8391-287T>C	noncoding	Benign
X	31507279	A	G	A31507279G	DMD	NM_004006.2(DMD):c.8390+2T>C	noncoding	Pathogenic
X	31507280	C	G	C31507280G	DMD	NM_000109.4(DMD):c.8366+1G>C	noncoding	Pathogenic
X	31507280	C	T	C31507280T	DMD	NM_004006.2(DMD):c.8390+1G>A	noncoding	Pathogenic
X	31507309	C	A	C31507309A	DMD	NM_004006.3(DMD):c.8362G>T:p.Glu2788Ter	coding	Pathogenic
X	31507314	C	T	C31507314T	DMD	NM_004006.2(DMD):c.8357G>A:p.Trp2786Ter	coding	Pathogenic
X	31507363	C	T	C31507363T	DMD	NM_004006.2(DMD):c.8308G>A:p.Asp2770Asn	coding	Benign/Likely_benign
X	31507372	C	A	C31507372A	DMD	NM_004006.3(DMD):c.8299G>T:p.Glu2767Ter	coding	Pathogenic
X	31507393	G	A	G31507393A	DMD	NM_004006.3(DMD):c.8278C>T:p.Gln2760Ter	coding	Pathogenic
X	31507455	T	C	T31507455C	DMD	NM_004006.2(DMD):c.8218-2A>G	noncoding	Pathogenic
X	31507906	G	A	G31507906A	DMD	NM_004006.2(DMD):c.8218-453C>T	noncoding	Benign
X	31507909	G	C	G31507909C	DMD	NM_004006.2(DMD):c.8218-456C>G	noncoding	Benign
X	31508251	C	T	C31508251T	DMD	NM_004006.3(DMD):c.8218-798G>A	coding	Benign
X	31508522	C	T	C31508522T	DMD	NM_004006.2(DMD):c.8218-1069G>A	noncoding	Benign
X	31627676	C	T	C31627676T	DMD	NM_004006.3(DMD):c.8214G>A:p.Trp2738Ter	coding	Pathogenic
X	31627681	G	A	G31627681A	DMD	NM_004006.2(DMD):c.8209C>T:p.Gln2737Ter	coding	Pathogenic
X	31627693	C	A	C31627693A	DMD	NM_000109.4(DMD):c.8173G>T:p.Glu2725Ter	coding	Pathogenic
X	31627744	G	A	G31627744A	DMD	NM_004006.3(DMD):c.8146C>T:p.Gln2716Ter	coding	Pathogenic
X	31627813	G	A	G31627813A	DMD	NM_004006.2(DMD):c.8077C>T:p.Gln2693Ter	coding	Pathogenic
X	31627821	A	C	A31627821C	DMD	NM_000109.4(DMD):c.8045T>G:p.Leu2682Ter	coding	Pathogenic
X	31627852	G	A	G31627852A	DMD	NM_004006.2(DMD):c.8038C>T:p.Arg2680Ter	coding	Pathogenic
X	31657979	G	A	G31657979A	DMD	NM_004006.3(DMD):c.8027+11C>T	noncoding	Benign
X	31657983	T	A	T31657983A	DMD	NM_004006.2(DMD):c.8027+7A>T	noncoding	Benign/Likely_benign
X	31657988	A	T	A31657988T	DMD	NM_004006.2(DMD):c.8027+2T>A	noncoding	Pathogenic/Likely_pathogenic
X	31657989	C	A	C31657989A	DMD	NM_004006.3(DMD):c.8027+1G>T	noncoding	Pathogenic
X	31657989	C	T	C31657989T	DMD	NM_004006.2(DMD):c.8027+1G>A	noncoding	Pathogenic
X	31658007	C	T	C31658007T	DMD	NM_004006.2(DMD):c.8010G>A:p.Trp2670Ter	coding	Pathogenic
X	31658118	C	T	C31658118T	DMD	NM_000109.4(DMD):c.7875G>A:p.Trp2625Ter	coding	Pathogenic
X	31658123	G	A	G31658123A	DMD	NM_000109.4(DMD):c.7870C>T:p.Gln2624Ter	coding	Pathogenic
X	31679373	A	T	A31679373T	DMD	NM_004006.3(DMD):c.7872+2T>A	noncoding	Pathogenic
X	31679374	C	T	C31679374T	DMD	NM_004006.3(DMD):c.7872+1G>A	noncoding	Pathogenic
X	31679395	T	A	T31679395A	DMD	NM_004006.3(DMD):c.7852A>T:p.Lys2618Ter	coding	Pathogenic
X	31679430	C	T	C31679430T	DMD	NM_004006.2(DMD):c.7817G>A:p.Trp2606Ter	coding	Pathogenic
X	31679476	C	A	C31679476A	DMD	NM_004006.2(DMD):c.7771G>T:p.Glu2591Ter	coding	Pathogenic
X	31679479	C	A	C31679479A	DMD	NM_004006.3(DMD):c.7768G>T:p.Glu2590Ter	coding	Pathogenic
X	31679492	C	T	C31679492T	DMD	NM_004006.2(DMD):c.7755G>A:p.Trp2585Ter	coding	Pathogenic
X	31679511	A	T	A31679511T	DMD	NM_004006.3(DMD):c.7736T>A:p.Leu2579Ter	coding	Pathogenic
X	31679519	A	G	A31679519G	DMD	NM_004006.3(DMD):c.7728T>C:p.Asn2576=	coding	Benign
X	31679527	G	A	G31679527A	DMD	NM_004006.3(DMD):c.7720C>T:p.Gln2574Ter	coding	Pathogenic
X	31679530	G	A	G31679530A	DMD	NM_004006.3(DMD):c.7717C>T:p.Gln2573Ter	coding	Pathogenic
X	31679542	G	A	G31679542A	DMD	NM_004006.3(DMD):c.7705C>T:p.Gln2569Ter	coding	Pathogenic
X	31679564	C	T	C31679564T	DMD	NM_000109.4(DMD):c.7659G>A:p.Trp2553Ter	coding	Pathogenic
X	31679565	C	T	C31679565T	DMD	NM_000109.4(DMD):c.7658G>A:p.Trp2553Ter	coding	Pathogenic
X	31679575	G	A	G31679575A	DMD	NM_004006.2(DMD):c.7672C>T:p.Gln2558Ter	coding	Pathogenic
X	31679587	C	G	C31679587G	DMD	NM_000109.4(DMD):c.7637-1G>C	coding	Pathogenic
X	31679587	C	T	C31679587T	DMD	NM_004006.3(DMD):c.7661-1G>A	coding	Pathogenic
X	31679588	T	C	T31679588C	DMD	NM_004006.2(DMD):c.7661-2A>G	noncoding	Pathogenic
X	31729634	G	A	G31729634A	DMD	NM_004006.2(DMD):c.7657C>T:p.Arg2553Ter	coding	Pathogenic
X	31729695	G	A	G31729695A	DMD	NM_004006.3(DMD):c.7596C>T:p.Thr2532=	coding	Benign/Likely_benign
X	31729711	A	T	A31729711T	DMD	NM_000109.4(DMD):c.7556T>A:p.Leu2519Ter	coding	Pathogenic
X	31729720	C	T	C31729720T	DMD	NM_000109.4(DMD):c.7547G>A:p.Arg2516His	coding	Benign/Likely_benign
X	31729727	G	A	G31729727A	DMD	NM_004006.3(DMD):c.7564C>T:p.Gln2522Ter	coding	Pathogenic
X	31729904	G	C	G31729904C	DMD	NM_004006.2(DMD):c.7543-156C>G	noncoding	Benign
X	31773947	T	C	T31773947C	DMD	NM_004006.3(DMD):c.7542+13A>G	noncoding	Benign/Likely_benign
X	31774026	A	G	A31774026G	DMD	NM_004006.2(DMD):c.7476T>C:p.Val2492=	coding	Benign
X	31774030	T	C	T31774030C	DMD	NM_004006.2(DMD):c.7472A>G:p.Gln2491Arg	coding	Benign/Likely_benign
X	31774048	C	T	C31774048T	DMD	NM_004006.2(DMD):c.7454G>A:p.Trp2485Ter	coding	Pathogenic
X	31774100	C	A	C31774100A	DMD	NM_000109.4(DMD):c.7378G>T:p.Glu2460Ter	coding	Pathogenic
X	31774102	A	T	A31774102T	DMD	NM_004006.2(DMD):c.7400T>A:p.Leu2467Ter	coding	Pathogenic
X	31774105	A	G	A31774105G	DMD	NM_004006.3(DMD):c.7397T>C:p.Met2466Thr	coding	Benign/Likely_benign
X	31774124	C	A	C31774124A	DMD	NM_004006.3(DMD):c.7378G>T:p.Glu2460Ter	coding	Pathogenic
X	31774193	C	T	C31774193T	DMD	NM_004006.2(DMD):c.7310-1G>A	coding	Pathogenic
X	31774228	G	A	G31774228A	DMD	NM_004006.2(DMD):c.7310-36C>T	noncoding	Benign
X	31774442	G	A	G31774442A	DMD	NM_004006.2(DMD):c.7310-250C>T	noncoding	Benign
X	31819974	C	A	C31819974A	DMD	NM_004006.3(DMD):c.7309+1G>T	noncoding	Pathogenic
X	31819974	C	T	C31819974T	DMD	NM_000109.4(DMD):c.7285+1G>A	noncoding	Pathogenic
X	31820032	G	A	G31820032A	DMD	NM_004006.2(DMD):c.7252C>T:p.Gln2418Ter	coding	Pathogenic
X	31820037	A	T	A31820037T	DMD	NM_004006.2(DMD):c.7247T>A:p.Leu2416Ter	coding	Pathogenic
X	31820040	C	T	C31820040T	DMD	NM_004006.3(DMD):c.7244G>A:p.Arg2415His	coding	Benign/Likely_benign
X	31820242	T	G	T31820242G	DMD	NM_004006.2(DMD):c.7201-159A>C	noncoding	Benign
X	31836729	G	A	G31836729A	DMD	NM_004013.2(DMD):c.-192C>T	coding	Pathogenic
X	31836748	G	C	G31836748C	DMD	NM_004013.2(DMD):c.-211C>G	coding	Pathogenic
X	31836759	G	A	G31836759A	DMD	NM_004013.2(DMD):c.-222C>T	coding	Pathogenic
X	31836767	G	T	G31836767T	DMD	NM_004006.2(DMD):c.7151C>A:p.Ser2384Tyr	coding	Benign/Likely_benign
X	31836813	C	A	C31836813A	DMD	NM_004006.2(DMD):c.7105G>T:p.Glu2369Ter	coding	Pathogenic
X	31875032	C	G	C31875032G	DMD	NM_004006.2(DMD):c.7098+156G>C	noncoding	Benign
X	31875187	C	A	C31875187A	DMD	NM_004006.2(DMD):c.7098+1G>T	noncoding	Pathogenic
X	31875187	C	T	C31875187T	DMD	NM_004006.3(DMD):c.7098+1G>A	noncoding	Pathogenic
X	31875190	T	G	T31875190G	DMD	NM_004006.3(DMD):c.7096A>C:p.Lys2366Gln	noncoding	Benign
X	31875220	G	A	G31875220A	DMD	NM_004006.2(DMD):c.7066C>T:p.Gln2356Ter	coding	Pathogenic
X	31875257	C	T	C31875257T	DMD	NM_004006.3(DMD):c.7029G>A:p.Trp2343Ter	coding	Pathogenic
X	31875258	C	T	C31875258T	DMD	NM_004006.3(DMD):c.7028G>A:p.Trp2343Ter	coding	Pathogenic
X	31875304	T	A	T31875304A	DMD	NM_004013.2(DMD):c.-399A>T	coding	Pathogenic
X	31875331	G	A	G31875331A	DMD	NM_004006.2(DMD):c.6955C>T:p.Gln2319Ter	coding	Pathogenic
X	31875333	G	A	G31875333A	DMD	NM_004006.2(DMD):c.6953C>T:p.Ala2318Val	coding	Benign
X	31875374	C	A	C31875374A	DMD	NM_004006.3(DMD):c.6913-1G>T	coding	Pathogenic
X	31875375	T	A	T31875375A	DMD	NM_004006.3(DMD):c.6913-2A>T	noncoding	Pathogenic
X	31875487	T	A	T31875487A	DMD	NM_004006.2(DMD):c.6913-114A>T	noncoding	Benign
X	31879132	C	G	C31879132G	DMD	NM_004006.2(DMD):c.6913-3759G>C	noncoding	Benign
X	31879136	G	A	G31879136A	DMD	NM_004006.2(DMD):c.6913-3763C>T	noncoding	Benign
X	31879148	A	G	A31879148G	DMD	NM_004006.2(DMD):c.6913-3775T>C	noncoding	Benign
X	31879289	G	C	G31879289C	DMD	NM_004006.2(DMD):c.6913-3916C>G	noncoding	Benign
X	31879513	C	T	C31879513T	DMD	NM_004006.2(DMD):c.6913-4140G>A	noncoding	Benign
X	31879559	C	T	C31879559T	DMD	NM_004006.2(DMD):c.6913-4186G>A	noncoding	Benign
X	31929319	C	T	C31929319T	DMD	NM_004006.2(DMD):c.6912+277G>A	noncoding	Benign
X	31929420	T	C	T31929420C	DMD	NM_004006.2(DMD):c.6912+176A>G	noncoding	Benign
X	31929602	C	T	C31929602T	DMD	NM_004013.2(DMD):c.-475G>A	coding	Pathogenic
X	31929607	G	A	G31929607A	DMD	NM_004006.3(DMD):c.6901C>T:p.Gln2301Ter	coding	Pathogenic
X	31929619	G	A	G31929619A	DMD	NM_004006.3(DMD):c.6889C>T:p.Gln2297Ter	coding	Pathogenic
X	31929634	C	A	C31929634A	DMD	NM_004006.2(DMD):c.6874G>T:p.Glu2292Ter	coding	Pathogenic
X	31929718	G	A	G31929718A	DMD	NM_004013.2(DMD):c.-591C>T	coding	Pathogenic
X	31931939	G	A	G31931939A	DMD	NM_004006.2(DMD):c.6762+141C>T	noncoding	Benign
X	31932079	C	A	C31932079A	DMD	NM_004006.2(DMD):c.6762+1G>T	noncoding	Pathogenic
X	31932082	T	A	T31932082A	DMD	NM_004006.3(DMD):c.6760A>T:p.Lys2254Ter	coding	Pathogenic
X	31932088	G	A	G31932088A	DMD	NM_004006.3(DMD):c.6754C>T:p.Gln2252Ter	coding	Pathogenic
X	31932110	C	G	C31932110G	DMD	NM_004006.2(DMD):c.6732G>C:p.Gln2244His	coding	Benign/Likely_benign
X	31932193	G	A	G31932193A	DMD	NM_004013.2(DMD):c.-732C>T	coding	Pathogenic
X	31932220	C	A	C31932220A	DMD	NM_004006.3(DMD):c.6622G>T:p.Glu2208Ter	coding	Pathogenic
X	31932229	T	A	T31932229A	DMD	NM_004006.2(DMD):c.6615-2A>T	noncoding	Pathogenic
X	31932229	T	C	T31932229C	DMD	NM_004006.3(DMD):c.6615-2A>G	noncoding	Pathogenic
X	31964754	A	T	A31964754T	DMD	NM_004006.2(DMD):c.6614+3585T>A	noncoding	Benign
X	31965045	C	T	C31965045T	DMD	NM_004006.2(DMD):c.6614+3294G>A	noncoding	Benign
X	31968313	C	A	C31968313A	DMD	NM_004006.2(DMD):c.6614+26G>T	noncoding	Benign
X	31968331	C	T	C31968331T	DMD	NM_004006.2(DMD):c.6614+8G>A	noncoding	Benign/Likely_benign
X	31968337	A	G	A31968337G	DMD	NM_004006.2(DMD):c.6614+2T>C	noncoding	Pathogenic
X	31968373	C	A	C31968373A	DMD	NM_004013.2(DMD):c.-801G>T	coding	Pathogenic
X	31968409	G	A	G31968409A	DMD	NM_004013.2(DMD):c.-837C>T	coding	Pathogenic
X	31968451	C	A	C31968451A	DMD	NM_004006.2(DMD):c.6502G>T:p.Glu2168Ter	coding	Pathogenic
X	31968470	T	C	T31968470C	DMD	NM_004006.2(DMD):c.6483A>G:p.Thr2161=	coding	Benign
X	31968490	G	A	G31968490A	DMD	NM_004006.3(DMD):c.6463C>T:p.Arg2155Trp	coding	Benign/Likely_benign
X	31968657	C	T	C31968657T	DMD	NM_004006.2(DMD):c.6439-143G>A	noncoding	Benign
X	32216930	T	A	T32216930A	DMD	NM_004006.2(DMD):c.6424A>T:p.Lys2142Ter	coding	Pathogenic
X	32216931	G	C	G32216931C	DMD	NM_004006.3(DMD):c.6423C>G:p.Tyr2141Ter	coding	Pathogenic
X	32216931	G	T	G32216931T	DMD	NM_004006.2(DMD):c.6423C>A:p.Tyr2141Ter	coding	Pathogenic
X	32216940	A	G	A32216940G	DMD	NM_004006.2(DMD):c.6414T>C:p.His2138=	coding	Benign/Likely_benign
X	32216946	C	T	C32216946T	DMD	NM_004006.2(DMD):c.6408G>A:p.Trp2136Ter	coding	Pathogenic
X	32216981	G	A	G32216981A	DMD	NM_004006.2(DMD):c.6373C>T:p.Gln2125Ter	coding	Pathogenic
X	32216996	G	A	G32216996A	DMD	NM_004006.2(DMD):c.6358C>T:p.Leu2120=	coding	Benign
X	32216997	C	T	C32216997T	DMD	NM_004006.3(DMD):c.6357G>A:p.Trp2119Ter	coding	Pathogenic
X	32216998	C	T	C32216998T	DMD	NM_004006.3(DMD):c.6356G>A:p.Trp2119Ter	coding	Pathogenic
X	32217032	G	A	G32217032A	DMD	NM_004006.3(DMD):c.6322C>T:p.Arg2108Cys	coding	Benign
X	32217037	C	T	C32217037T	DMD	NM_004006.2(DMD):c.6317G>A:p.Trp2106Ter	coding	Pathogenic
X	32217062	G	A	G32217062A	DMD	NM_004006.2(DMD):c.6292C>T:p.Arg2098Ter	coding	Pathogenic
X	32217073	A	G	A32217073G	DMD	NM_004006.2(DMD):c.6291-10T>C	noncoding	Benign/Likely_benign
X	32217178	C	T	C32217178T	DMD	NM_004006.2(DMD):c.6291-115G>A	noncoding	Benign
X	32287527	A	T	A32287527T	DMD	NM_004006.3(DMD):c.6290+2T>A	noncoding	Pathogenic
X	32287528	C	G	C32287528G	DMD	NM_004006.2(DMD):c.6290+1G>C	noncoding	Pathogenic
X	32287536	G	A	G32287536A	DMD	NM_004006.2(DMD):c.6283C>T:p.Arg2095Ter	coding	Pathogenic
X	32287543	G	C	G32287543C	DMD	NM_004006.2(DMD):c.6276C>G:p.Tyr2092Ter	coding	Pathogenic
X	32287596	G	A	G32287596A	DMD	NM_000109.4(DMD):c.6199C>T:p.Gln2067Ter	coding	Pathogenic
X	32287676	C	T	C32287676T	DMD	NM_004006.2(DMD):c.6143G>A:p.Ser2048Asn	coding	Benign/Likely_benign
X	32287679	T	C	T32287679C	DMD	NM_004006.2(DMD):c.6140A>G:p.Gln2047Arg	coding	Benign
X	32287680	G	A	G32287680A	DMD	NM_004006.3(DMD):c.6139C>T:p.Gln2047Ter	coding	Pathogenic
X	32287687	A	G	A32287687G	DMD	NM_004006.2(DMD):c.6132T>C:p.Ser2044=	coding	Benign/Likely_benign
X	32287702	C	T	C32287702T	DMD	NM_004006.2(DMD):c.6118-1G>A	coding	Pathogenic
X	32287851	A	G	A32287851G	DMD	NM_004006.2(DMD):c.6118-150T>C	noncoding	Benign
X	32310127	A	G	A32310127G	DMD	NM_004006.3(DMD):c.6072T>C:p.Cys2024=	coding	Benign
X	32310127	A	T	A32310127T	DMD	NM_000109.4(DMD):c.6048T>A:p.Cys2016Ter	coding	Pathogenic
X	32310174	G	A	G32310174A	DMD	NM_000109.4(DMD):c.6001C>T:p.Gln2001Ter	coding	Pathogenic
X	32310176	G	C	G32310176C	DMD	NM_004006.3(DMD):c.6023C>G:p.Ser2008Ter	coding	Pathogenic
X	32310199	A	T	A32310199T	DMD	NM_000109.4(DMD):c.5976T>A:p.Tyr1992Ter	coding	Pathogenic
X	32310214	A	C	A32310214C	DMD	NM_000109.4(DMD):c.5961T>G:p.Tyr1987Ter	coding	Pathogenic
X	32310215	T	A	T32310215A	DMD	NM_004006.2(DMD):c.5984A>T:p.Tyr1995Phe	coding	Benign/Likely_benign
X	32310261	C	A	C32310261A	DMD	NM_000109.4(DMD):c.5914G>T:p.Glu1972Ter	coding	Pathogenic
X	32310455	C	T	C32310455T	DMD	NM_004006.2(DMD):c.5923-179G>A	noncoding	Benign
X	32342099	C	A	C32342099A	DMD	NM_004006.3(DMD):c.5922+1G>T	noncoding	Pathogenic
X	32342105	G	A	G32342105A	DMD	NM_004006.2(DMD):c.5917C>T:p.Gln1973Ter	coding	Pathogenic
X	32342123	G	A	G32342123A	DMD	NM_004006.2(DMD):c.5899C>T:p.Arg1967Ter	coding	Pathogenic
X	32342150	C	A	C32342150A	DMD	NM_004006.2(DMD):c.5872G>T:p.Glu1958Ter	coding	Pathogenic
X	32342154	C	T	C32342154T	DMD	NM_000109.4(DMD):c.5844G>A:p.Trp1948Ter	coding	Pathogenic
X	32342155	C	T	C32342155T	DMD	NM_004006.2(DMD):c.5867G>A:p.Trp1956Ter	coding	Pathogenic
X	32342171	G	A	G32342171A	DMD	NM_004006.2(DMD):c.5851C>T:p.Gln1951Ter	coding	Pathogenic
X	32342210	C	A	C32342210A	DMD	NM_004006.3(DMD):c.5812G>T:p.Glu1938Ter	coding	Pathogenic
X	32342222	C	A	C32342222A	DMD	NM_000109.4(DMD):c.5776G>T:p.Glu1926Ter	coding	Pathogenic
X	32342249	C	A	C32342249A	DMD	NM_004006.2(DMD):c.5773G>T:p.Glu1925Ter	coding	Pathogenic
X	32342264	G	A	G32342264A	DMD	NM_004006.2(DMD):c.5758C>T:p.Gln1920Ter	coding	Pathogenic
X	32343133	C	A	C32343133A	DMD	NM_000109.4(DMD):c.5715+1G>T	noncoding	Pathogenic
X	32343149	A	G	A32343149G	DMD	NM_004006.3(DMD):c.5724T>C:p.Asp1908=	coding	Benign
X	32343160	C	A	C32343160A	DMD	NM_000109.4(DMD):c.5689G>T:p.Glu1897Ter	coding	Pathogenic
X	32343174	A	C	A32343174C	DMD	NM_004006.2(DMD):c.5699T>G:p.Leu1900Ter	coding	Pathogenic
X	32343184	C	A	C32343184A	DMD	NM_004006.3(DMD):c.5689G>T:p.Glu1897Ter	coding	Pathogenic
X	32343220	G	A	G32343220A	DMD	NM_004006.3(DMD):c.5653C>T:p.Gln1885Ter	coding	Pathogenic
X	32343226	T	A	T32343226A	DMD	NM_004006.2(DMD):c.5647A>T:p.Lys1883Ter	coding	Pathogenic
X	32343232	G	A	G32343232A	DMD	NM_004006.2(DMD):c.5641C>T:p.Gln1881Ter	coding	Pathogenic
X	32343233	A	T	A32343233T	DMD	NM_000109.4(DMD):c.5616T>A:p.Tyr1872Ter	coding	Pathogenic
X	32343237	C	T	C32343237T	DMD	NM_004006.3(DMD):c.5636G>A:p.Trp1879Ter	coding	Pathogenic
X	32343253	C	T	C32343253T	DMD	NM_004006.3(DMD):c.5620G>A:p.Glu1874Lys	coding	Benign/Likely_benign
X	32343271	T	A	T32343271A	DMD	NM_004006.2(DMD):c.5602A>T:p.Arg1868Ter	coding	Pathogenic
X	32343592	T	G	T32343592G	DMD	NM_004006.2(DMD):c.5587-306A>C	noncoding	Benign
X	32343594	C	A	C32343594A	DMD	NM_004006.2(DMD):c.5587-308G>T	noncoding	Benign
X	32345705	C	T	C32345705T	DMD	NM_004006.2(DMD):c.5586+238G>A	noncoding	Benign
X	32345913	C	T	C32345913T	DMD	NM_004006.2(DMD):c.5586+30G>A	noncoding	Benign
X	32345925	T	C	T32345925C	DMD	NM_004006.3(DMD):c.5586+18A>G	noncoding	Benign
X	32345966	G	A	G32345966A	DMD	NM_000109.4(DMD):c.5539C>T:p.Gln1847Ter	coding	Pathogenic
X	32345975	G	A	G32345975A	DMD	NM_000109.4(DMD):c.5530C>T:p.Gln1844Ter	coding	Pathogenic
X	32345978	G	A	G32345978A	DMD	NM_004006.2(DMD):c.5551C>T:p.Gln1851Ter	coding	Pathogenic
X	32345996	C	A	C32345996A	DMD	NM_004006.2(DMD):c.5533G>T:p.Glu1845Ter	coding	Pathogenic
X	32345999	G	A	G32345999A	DMD	NM_004006.3(DMD):c.5530C>T	coding	Pathogenic
X	32346023	G	A	G32346023A	DMD	NM_004006.2(DMD):c.5506C>T:p.Gln1836Ter	coding	Pathogenic
X	32346042	T	C	T32346042C	DMD	NM_004006.2(DMD):c.5487A>G:p.Gln1829=	coding	Benign/Likely_benign
X	32346068	C	A	C32346068A	DMD	NM_004006.2(DMD):c.5461G>T:p.Glu1821Ter	coding	Pathogenic
X	32346077	C	A	C32346077A	DMD	NM_004006.3(DMD):c.5452G>T:p.Glu1818Ter	coding	Pathogenic
X	32348258	C	A	C32348258A	DMD	NM_004006.3(DMD):c.5448+148G>T	noncoding	Benign
X	32348447	G	A	G32348447A	DMD	NM_000109.4(DMD):c.5383C>T:p.Gln1795Ter	coding	Pathogenic
X	32348483	G	A	G32348483A	DMD	NM_004006.2(DMD):c.5371C>T:p.Gln1791Ter	coding	Pathogenic
X	32348491	G	C	G32348491C	DMD	NM_000109.4(DMD):c.5339C>G:p.Ser1780Ter	coding	Pathogenic
X	32348501	G	A	G32348501A	DMD	NM_004006.2(DMD):c.5353C>T:p.Gln1785Ter	coding	Pathogenic
X	32348504	C	A	C32348504A	DMD	NM_000109.4(DMD):c.5326G>T:p.Glu1776Ter	coding	Pathogenic
X	32348510	C	A	C32348510A	DMD	NM_004006.2(DMD):c.5344G>T:p.Glu1782Ter	coding	Pathogenic
X	32348550	C	A	C32348550A	DMD	NM_004006.2(DMD):c.5326-22G>T	noncoding	Benign
X	32349013	A	T	A32349013T	DMD	NM_004006.2(DMD):c.5326-485T>A	noncoding	Benign
X	32362799	T	A	T32362799A	DMD	NM_004006.2(DMD):c.5314A>T:p.Lys1772Ter	coding	Pathogenic
X	32362826	G	A	G32362826A	DMD	NM_004006.2(DMD):c.5287C>T:p.Arg1763Ter	coding	Pathogenic
X	32362833	G	A	G32362833A	DMD	NM_004006.2(DMD):c.5280C>T:p.Leu1760=	coding	Benign
X	32362847	G	A	G32362847A	DMD	NM_004006.2(DMD):c.5266C>T:p.Gln1756Ter	coding	Pathogenic
X	32362848	G	A	G32362848A	DMD	NM_004006.3(DMD):c.5265C>T:p.Pro1755=	coding	Benign/Likely_benign
X	32362858	A	C	A32362858C	DMD	NM_004006.3(DMD):c.5255T>G:p.Leu1752Ter	coding	Pathogenic
X	32362879	C	T	C32362879T	DMD	NM_004006.3(DMD):c.5234G>A:p.Arg1745His	coding	Benign
X	32362910	G	A	G32362910A	DMD	NM_004006.2(DMD):c.5203C>T:p.Arg1735Cys	coding	Benign/Likely_benign
X	32362946	C	A	C32362946A	DMD	NM_004006.3(DMD):c.5167G>T:p.Glu1723Ter	coding	Pathogenic
X	32362950	C	G	C32362950G	DMD	NM_004006.2(DMD):c.5163G>C:p.Lys1721Asn	coding	Benign/Likely_benign
X	32364596	C	A	C32364596A	DMD	NM_004006.2(DMD):c.5140G>T:p.Glu1714Ter	coding	Pathogenic
X	32364602	G	A	G32364602A	DMD	NM_004006.2(DMD):c.5134C>T:p.Gln1712Ter	coding	Pathogenic
X	32364605	G	A	G32364605A	DMD	NM_004006.2(DMD):c.5131C>T:p.Gln1711Ter	coding	Pathogenic
X	32364626	C	A	C32364626A	DMD	NM_004006.2(DMD):c.5110G>T:p.Glu1704Ter	coding	Pathogenic
X	32364647	G	A	G32364647A	DMD	NM_000109.4(DMD):c.5065C>T:p.Gln1689Ter	coding	Pathogenic
X	32364654	C	T	C32364654T	DMD	NM_004006.2(DMD):c.5082G>A:p.Trp1694Ter	coding	Pathogenic
X	32364680	G	A	G32364680A	DMD	NM_004006.3(DMD):c.5056C>T:p.Gln1686Ter	coding	Pathogenic
X	32364704	G	A	G32364704A	DMD	NM_000109.4(DMD):c.5008C>T:p.Gln1670Ter	coding	Pathogenic
X	32364712	T	C	T32364712C	DMD	NM_004006.2(DMD):c.5026-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	32364717	T	C	T32364717C	DMD	NM_004006.2(DMD):c.5026-7A>G	noncoding	Benign
X	32364917	C	T	C32364917T	DMD	NM_004006.2(DMD):c.5025+103G>A	noncoding	Benign
X	32365021	A	T	A32365021T	DMD	NM_004006.2(DMD):c.5024T>A:p.Leu1675Ter	coding	Pathogenic
X	32365029	A	T	A32365029T	DMD	NM_004006.3(DMD):c.5016T>A:p.Asn1672Lys	coding	Benign/Likely_benign
X	32365049	G	A	G32365049A	DMD	NM_004006.2(DMD):c.4996C>T:p.Arg1666Ter	coding	Pathogenic
X	32365065	C	T	C32365065T	DMD	NM_004006.3(DMD):c.4980G>A:p.Trp1660Ter	coding	Pathogenic
X	32365092	A	G	A32365092G	DMD	NM_004006.2(DMD):c.4953T>C:p.Asp1651=	coding	Benign
X	32365105	G	A	G32365105A	DMD	NM_004006.2(DMD):c.4940C>T:p.Thr1647Met	coding	Benign
X	32365137	C	T	C32365137T	DMD	NM_004006.2(DMD):c.4908G>A:p.Glu1636=	coding	Benign
X	32365142	C	A	C32365142A	DMD	NM_004006.3(DMD):c.4903G>T:p.Gly1635Ter	coding	Pathogenic
X	32365148	C	A	C32365148A	DMD	NM_004006.3(DMD):c.4897G>T:p.Glu1633Ter	coding	Pathogenic
X	32365167	C	A	C32365167A	DMD	NM_004006.3(DMD):c.4878G>T:p.Val1626=	coding	Benign
X	32365169	C	T	C32365169T	DMD	NM_004006.2(DMD):c.4876G>A:p.Val1626Met	coding	Benign/Likely_benign
X	32365175	G	A	G32365175A	DMD	NM_004006.2(DMD):c.4870C>T:p.Gln1624Ter	coding	Pathogenic
X	32365187	C	A	C32365187A	DMD	NM_004006.2(DMD):c.4858G>T:p.Glu1620Ter	coding	Pathogenic
X	32365352	C	T	C32365352T	DMD	NM_004006.2(DMD):c.4846-153G>A	noncoding	Benign
X	32380500	T	C	T32380500C	DMD	NM_004006.2(DMD):c.4845+10A>G	noncoding	Benign
X	32380508	A	C	A32380508C	DMD	NM_000109.4(DMD):c.4821+2T>G	noncoding	Pathogenic
X	32380509	C	A	C32380509A	DMD	NM_000109.4(DMD):c.4821+1G>T	noncoding	Pathogenic
X	32380512	T	A	T32380512A	DMD	NM_000109.4(DMD):c.4819A>T:p.Lys1607Ter	coding	Pathogenic
X	32380515	C	A	C32380515A	DMD	NM_004006.3(DMD):c.4840G>T:p.Gly1614Ter	coding	Pathogenic
X	32380517	C	T	C32380517T	DMD	NM_004006.2(DMD):c.4838G>A:p.Trp1613Ter	coding	Pathogenic
X	32380549	T	A	T32380549A	DMD	NM_000109.4(DMD):c.4782A>T:p.Gly1594=	coding	Pathogenic
X	32380597	C	T	C32380597T	DMD	NM_004006.2(DMD):c.4758G>A:p.Trp1586Ter	coding	Pathogenic
X	32380626	G	A	G32380626A	DMD	NM_004006.2(DMD):c.4729C>T:p.Arg1577Ter	coding	Pathogenic
X	32380662	G	A	G32380662A	DMD	NM_004006.3(DMD):c.4693C>T:p.Gln1565Ter	coding	Pathogenic
X	32380671	T	A	T32380671A	DMD	NM_004006.3(DMD):c.4684A>T:p.Arg1562Ter	coding	Pathogenic
X	32380681	C	T	C32380681T	DMD	NM_004006.3(DMD):c.4675-1G>A	coding	Pathogenic
X	32380682	T	C	T32380682C	DMD	NM_000109.4(DMD):c.4651-2A>G	noncoding	Pathogenic
X	32386035	G	C	G32386035C	DMD	NM_004006.2(DMD):c.4674+275C>G	noncoding	Benign
X	32386040	T	C	T32386040C	DMD	NM_004006.2(DMD):c.4674+270A>G	noncoding	Benign
X	32386324	C	A	C32386324A	DMD	NM_004006.3(DMD):c.4660G>T:p.Glu1554Ter	coding	Pathogenic
X	32386366	C	A	C32386366A	DMD	NM_004006.2(DMD):c.4618G>T:p.Glu1540Ter	coding	Pathogenic
X	32386378	C	A	C32386378A	DMD	NM_004006.2(DMD):c.4606G>T:p.Glu1536Ter	coding	Pathogenic
X	32386384	G	A	G32386384A	DMD	NM_004006.3(DMD):c.4600C>T:p.Gln1534Ter	coding	Pathogenic
X	32386393	G	A	G32386393A	DMD	NM_004006.2(DMD):c.4591C>T:p.Gln1531Ter	coding	Pathogenic
X	32386438	T	A	T32386438A	DMD	NM_004006.2(DMD):c.4546A>T:p.Lys1516Ter	coding	Pathogenic
X	32386455	T	C	T32386455C	DMD	NM_004006.2(DMD):c.4529A>G:p.Lys1510Arg	coding	Benign/Likely_benign
X	32386467	T	G	T32386467G	DMD	NM_004006.3(DMD):c.4519-2A>C	noncoding	Pathogenic
X	32386499	A	T	A32386499T	DMD	NM_004006.2(DMD):c.4519-34T>A	noncoding	Benign
X	32386784	T	C	T32386784C	DMD	NM_004006.2(DMD):c.4519-319A>G	noncoding	Benign
X	32389496	C	T	C32389496T	DMD	NM_004006.2(DMD):c.4518+5G>A	noncoding	Pathogenic
X	32389518	G	A	G32389518A	DMD	NM_004006.2(DMD):c.4501C>T:p.Gln1501Ter	coding	Pathogenic
X	32389524	G	A	G32389524A	DMD	NM_000109.4(DMD):c.4471C>T:p.Gln1491Ter	coding	Pathogenic
X	32389533	C	A	C32389533A	DMD	NM_004006.2(DMD):c.4486G>T:p.Glu1496Ter	coding	Pathogenic
X	32389536	G	A	G32389536A	DMD	NM_004006.2(DMD):c.4483C>T:p.Gln1495Ter	coding	Pathogenic
X	32389581	C	A	C32389581A	DMD	NM_004006.3(DMD):c.4438G>T:p.Glu1480Ter	coding	Pathogenic
X	32389586	A	C	A32389586C	DMD	NM_004006.2(DMD):c.4433T>G:p.Leu1478Ter	coding	Pathogenic
X	32389596	T	A	T32389596A	DMD	NM_004006.3(DMD):c.4423A>T:p.Lys1475Ter	coding	Pathogenic
X	32389605	G	A	G32389605A	DMD	NM_004006.2(DMD):c.4414C>T:p.Gln1472Ter	coding	Pathogenic
X	32389614	G	A	G32389614A	DMD	NM_000109.4(DMD):c.4381C>T:p.Gln1461Ter	coding	Pathogenic
X	32389617	C	A	C32389617A	DMD	NM_004006.3(DMD):c.4402G>T:p.Glu1468Ter	coding	Pathogenic
X	32389644	G	A	G32389644A	DMD	NM_004006.2(DMD):c.4375C>T:p.Arg1459Ter	coding	Pathogenic
X	32389646	A	T	A32389646T	DMD	NM_004006.2(DMD):c.4373T>A:p.Phe1458Tyr	coding	Benign/Likely_benign
X	32389667	A	C	A32389667C	DMD	NM_004006.3(DMD):c.4352T>G:p.Leu1451Ter	coding	Pathogenic
X	32389677	G	C	G32389677C	DMD	NM_004006.3(DMD):c.4345-3C>G	noncoding	Pathogenic
X	32390054	T	A	T32390054A	DMD	NM_004006.2(DMD):c.4344+17A>T	noncoding	Benign
X	32390088	G	A	G32390088A	DMD	NM_004006.3(DMD):c.4327C>T:p.Gln1443Ter	coding	Pathogenic
X	32390092	C	A	C32390092A	DMD	NM_004006.2(DMD):c.4323G>T:p.Leu1441=	coding	Benign
X	32390100	T	A	T32390100A	DMD	NM_000109.4(DMD):c.4291A>T:p.Arg1431Ter	coding	Pathogenic
X	32390103	G	A	G32390103A	DMD	NM_000109.4(DMD):c.4288C>T:p.Gln1430Ter	coding	Pathogenic
X	32390121	G	A	G32390121A	DMD	NM_004006.3(DMD):c.4294C>T:p.Gln1432Ter	coding	Pathogenic
X	32390140	T	C	T32390140C	DMD	NM_004006.3(DMD):c.4275A>G:p.Glu1425=	coding	Benign
X	32390175	G	A	G32390175A	DMD	NM_004006.2(DMD):c.4240C>T:p.Gln1414Ter	coding	Pathogenic
X	32390194	T	C	T32390194C	DMD	NM_004006.3(DMD):c.4234-13A>G	noncoding	Benign
X	32411754	G	A	G32411754A	DMD	NM_004006.2(DMD):c.4231C>T:p.Gln1411Ter	coding	Pathogenic
X	32411772	G	A	G32411772A	DMD	NM_000109.4(DMD):c.4189C>T:p.Gln1397Ter	coding	Pathogenic
X	32411779	G	A	G32411779A	DMD	NM_004006.2(DMD):c.4206C>T:p.Asp1402=	coding	Benign
X	32411811	G	A	G32411811A	DMD	NM_000109.4(DMD):c.4150C>T:p.Gln1384Ter	coding	Pathogenic
X	32411823	A	C	A32411823C	DMD	NM_004006.3(DMD):c.4162T>G:p.Phe1388Val	coding	Benign
X	32411860	A	G	A32411860G	DMD	NM_004006.2(DMD):c.4125T>C:p.Thr1375=	coding	Benign/Likely_benign
X	32411865	C	A	C32411865A	DMD	NM_000109.4(DMD):c.4096G>T:p.Glu1366Ter	coding	Pathogenic
X	32411868	G	A	G32411868A	DMD	NM_000109.4(DMD):c.4093C>T:p.Gln1365Ter	coding	Pathogenic
X	32411870	G	A	G32411870A	DMD	NM_004006.2(DMD):c.4115C>T:p.Ala1372Val	coding	Benign
X	32411903	C	A	C32411903A	DMD	NM_004006.2(DMD):c.4082G>T:p.Arg1361Met	coding	Benign
X	32412302	C	A	C32412302A	DMD	NM_004006.3(DMD):c.4072-389G>T	noncoding	Benign
X	32412454	T	C	T32412454C	DMD	NM_004006.2(DMD):c.4072-541A>G	noncoding	Benign
X	32438240	C	T	C32438240T	DMD	NM_004006.2(DMD):c.4071+1G>A	noncoding	Pathogenic
X	32438255	C	A	C32438255A	DMD	NM_004006.3(DMD):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
X	32438312	C	A	C32438312A	DMD	NM_004006.2(DMD):c.4000G>T:p.Gly1334Ter	coding	Pathogenic/Likely_pathogenic
X	32438330	G	A	G32438330A	DMD	NM_004006.3(DMD):c.3982C>T:p.Gln1328Ter	coding	Pathogenic
X	32438342	G	A	G32438342A	DMD	NM_004006.3(DMD):c.3970C>T:p.Arg1324Cys	coding	Benign/Likely_benign
X	32438352	T	C	T32438352C	DMD	NM_004006.2(DMD):c.3960A>G:p.Pro1320=	coding	Benign
X	32438371	C	T	C32438371T	DMD	NM_004006.2(DMD):c.3941G>A:p.Arg1314Gln	coding	Benign
X	32438372	G	A	G32438372A	DMD	NM_004006.3(DMD):c.3940C>T:p.Arg1314Ter	coding	Pathogenic
X	32438389	G	T	G32438389T	DMD	NM_004006.2(DMD):c.3923C>A:p.Ser1308Ter	coding	Pathogenic
X	32440909	C	G	C32440909G	DMD	NM_004006.2(DMD):c.3921+271G>C	noncoding	Benign
X	32441052	G	A	G32441052A	DMD	NM_004006.2(DMD):c.3921+128C>T	noncoding	Benign
X	32441245	C	A	C32441245A	DMD	NM_004006.2(DMD):c.3856G>T:p.Glu1286Ter	coding	Pathogenic
X	32441258	C	T	C32441258T	DMD	NM_004006.3(DMD):c.3843G>A:p.Trp1281Ter	coding	Pathogenic
X	32441263	T	A	T32441263A	DMD	NM_000109.4(DMD):c.3814A>T:p.Lys1272Ter	coding	Pathogenic
X	32441297	C	T	C32441297T	DMD	NM_004006.2(DMD):c.3804G>A:p.Trp1268Ter	coding	Pathogenic
X	32441306	C	T	C32441306T	DMD	NM_004006.3(DMD):c.3795G>A:p.Trp1265Ter	coding	Pathogenic
X	32441332	A	G	A32441332G	DMD	NM_004006.2(DMD):c.3787-18T>C	noncoding	Benign
X	32441965	G	A	G32441965A	DMD	NM_004006.2(DMD):c.3787-651C>T	noncoding	Benign
X	32448160	G	A	G32448160A	DMD	NM_004006.2(DMD):c.3786+296C>T	noncoding	Benign
X	32448495	C	T	C32448495T	DMD	NM_000109.4(DMD):c.3723G>A:p.Trp1241Ter	coding	Pathogenic
X	32448500	G	A	G32448500A	DMD	NM_004006.2(DMD):c.3742C>T:p.Gln1248Ter	coding	Pathogenic
X	32448508	G	A	G32448508A	DMD	NM_004006.3(DMD):c.3734C>T:p.Thr1245Ile	coding	Benign
X	32448537	G	A	G32448537A	DMD	NM_004006.3(DMD):c.3705C>T:p.Ala1235=	coding	Benign
X	32448545	G	A	G32448545A	DMD	NM_004006.3(DMD):c.3697C>T:p.Gln1233Ter	coding	Pathogenic
X	32448563	G	A	G32448563A	DMD	NM_004006.2(DMD):c.3679C>T:p.Gln1227Ter	coding	Pathogenic
X	32448606	C	T	C32448606T	DMD	NM_004006.2(DMD):c.3636G>A:p.Ala1212=	coding	Benign/Likely_benign
X	32448607	G	A	G32448607A	DMD	NM_004006.2(DMD):c.3635C>T:p.Ala1212Val	coding	Benign/Likely_benign
X	32448611	C	A	C32448611A	DMD	NM_000109.4(DMD):c.3607G>T:p.Glu1203Ter	coding	Pathogenic
X	32448639	C	G	C32448639G	DMD	NM_004006.2(DMD):c.3604-1G>C	coding	Pathogenic
X	32452866	T	C	T32452866C	DMD	NM_004006.2(DMD):c.3603+1796A>G	noncoding	Benign
X	32454654	T	C	T32454654C	DMD	NM_004006.3(DMD):c.3603+8A>G	noncoding	Benign
X	32454659	T	A	T32454659A	DMD	NM_004006.2(DMD):c.3603+3A>T	noncoding	Pathogenic
X	32454660	A	C	A32454660C	DMD	NM_000109.4(DMD):c.3579+2T>G	noncoding	Pathogenic
X	32454660	A	G	A32454660G	DMD	NM_004006.3(DMD):c.3603+2T>C	noncoding	Pathogenic
X	32454660	A	T	A32454660T	DMD	NM_000109.4(DMD):c.3579+2T>A	noncoding	Pathogenic
X	32454685	G	A	G32454685A	DMD	NM_004006.2(DMD):c.3580C>T:p.Gln1194Ter	coding	Pathogenic
X	32454698	A	T	A32454698T	DMD	NM_004006.2(DMD):c.3567T>A:p.Thr1189=	coding	Benign/Likely_benign
X	32454730	C	A	C32454730A	DMD	NM_000109.4(DMD):c.3511G>T:p.Glu1171Ter	coding	Pathogenic
X	32454733	C	A	C32454733A	DMD	NM_000109.4(DMD):c.3508G>T:p.Glu1170Ter	coding	Pathogenic
X	32454765	G	C	G32454765C	DMD	NM_000109.4(DMD):c.3476C>G:p.Ser1159Ter	coding	Pathogenic
X	32454767	T	C	T32454767C	DMD	NM_004006.2(DMD):c.3498A>G:p.Leu1166=	coding	Benign/Likely_benign
X	32454775	T	A	T32454775A	DMD	NM_004006.3(DMD):c.3490A>T:p.Lys1164Ter	coding	Pathogenic
X	32454778	G	A	G32454778A	DMD	NM_004006.2(DMD):c.3487C>T:p.Gln1163Ter	coding	Pathogenic
X	32454793	T	C	T32454793C	DMD	NM_004006.2(DMD):c.3472A>G:p.Lys1158Glu	coding	Benign
X	32454796	C	A	C32454796A	DMD	NM_000109.4(DMD):c.3445G>T:p.Glu1149Ter	coding	Pathogenic
X	32454805	C	A	C32454805A	DMD	NM_004006.3(DMD):c.3460G>T:p.Gly1154Ter	coding	Pathogenic
X	32454832	C	G	C32454832G	DMD	NM_004006.2(DMD):c.3433G>C:p.Val1145Leu	coding	Benign
X	32460923	G	A	G32460923A	DMD	NM_004006.2(DMD):c.3432+2516C>T	noncoding	Benign
X	32460955	A	G	A32460955G	DMD	NM_004006.2(DMD):c.3432+2484T>C	noncoding	Benign
X	32463436	T	C	T32463436C	DMD	NM_000109.4(DMD):c.3408+3A>G	noncoding	Pathogenic
X	32463438	C	T	C32463438T	DMD	NM_004006.2(DMD):c.3432+1G>A	noncoding	Pathogenic
X	32463444	G	A	G32463444A	DMD	NM_004006.2(DMD):c.3427C>T:p.Gln1143Ter	coding	Pathogenic
X	32463458	C	T	C32463458T	DMD	NM_000109.4(DMD):c.3389G>A:p.Trp1130Ter	coding	Pathogenic
X	32463465	T	A	T32463465A	DMD	NM_004006.3(DMD):c.3406A>T:p.Thr1136Ser	coding	Benign/Likely_benign
X	32463496	C	G	C32463496G	DMD	NM_004006.2(DMD):c.3375G>C:p.Ser1125=	coding	Benign/Likely_benign
X	32463497	G	T	G32463497T	DMD	NM_000109.4(DMD):c.3350C>A:p.Ser1117Ter	coding	Pathogenic
X	32463511	C	T	C32463511T	DMD	NM_004006.2(DMD):c.3360G>A:p.Glu1120=	coding	Benign/Likely_benign
X	32463513	C	A	C32463513A	DMD	NM_004006.2(DMD):c.3358G>T:p.Glu1120Ter	coding	Pathogenic
X	32463576	G	A	G32463576A	DMD	NM_004006.2(DMD):c.3295C>T:p.Gln1099Ter	coding	Pathogenic
X	32463746	T	C	T32463746C	DMD	NM_004006.2(DMD):c.3277-152A>G	noncoding	Benign
X	32463896	C	T	C32463896T	DMD	NM_004006.2(DMD):c.3277-302G>A	noncoding	Benign
X	32464358	A	G	A32464358G	DMD	NM_004006.2(DMD):c.3276+228T>C	noncoding	Benign
X	32464569	T	A	T32464569A	DMD	NM_004006.2(DMD):c.3276+17A>T	noncoding	Benign
X	32464585	C	T	C32464585T	DMD	NM_000109.4(DMD):c.3252+1G>A	noncoding	Pathogenic
X	32464592	C	T	C32464592T	DMD	NM_004006.3(DMD):c.3270G>A:p.Gln1090=	coding	Benign/Likely_benign
X	32464594	G	A	G32464594A	DMD	NM_004006.2(DMD):c.3268C>T:p.Gln1090Ter	coding	Pathogenic
X	32464603	G	A	G32464603A	DMD	NM_004006.2(DMD):c.3259C>T:p.Gln1087Ter	coding	Pathogenic
X	32464642	C	A	C32464642A	DMD	NM_000109.4(DMD):c.3196G>T:p.Glu1066Ter	coding	Pathogenic
X	32464645	C	A	C32464645A	DMD	NM_004006.2(DMD):c.3217G>T:p.Glu1073Ter	coding	Pathogenic
X	32464674	C	T	C32464674T	DMD	NM_004006.2(DMD):c.3188G>A:p.Trp1063Ter	coding	Pathogenic
X	32464717	A	G	A32464717G	DMD	NM_004006.2(DMD):c.3163-18T>C	noncoding	Benign
X	32464743	C	T	C32464743T	DMD	NM_004006.2(DMD):c.3163-44G>A	noncoding	Benign
X	32468244	A	C	A32468244C	DMD	NM_004006.2(DMD):c.3162+254T>G	noncoding	Benign
X	32468509	G	A	G32468509A	DMD	NM_004006.2(DMD):c.3151C>T:p.Arg1051Ter	coding	Pathogenic
X	32468539	G	A	G32468539A	DMD	NM_004006.2(DMD):c.3121C>T:p.Gln1041Ter	coding	Pathogenic
X	32468546	C	T	C32468546T	DMD	NM_004006.2(DMD):c.3114G>A:p.Glu1038=	coding	Benign/Likely_benign
X	32468584	C	A	C32468584A	DMD	NM_000109.4(DMD):c.3052G>T:p.Glu1018Ter	coding	Pathogenic
X	32468601	G	C	G32468601C	DMD	NM_000109.4(DMD):c.3035C>G:p.Ser1012Ter	coding	Pathogenic
X	32468639	C	T	C32468639T	DMD	NM_004006.3(DMD):c.3021G>A:p.Ser1007=	coding	Benign
X	32468640	G	A	G32468640A	DMD	NM_004006.2(DMD):c.3020C>T:p.Ser1007Leu	coding	Benign/Likely_benign
X	32468640	G	T	G32468640T	DMD	NM_004006.2(DMD):c.3020C>A:p.Ser1007Ter	coding	Pathogenic
X	32468647	C	A	C32468647A	DMD	NM_004006.3(DMD):c.3013G>T:p.Glu1005Ter	coding	Pathogenic
X	32468669	G	C	G32468669C	DMD	NM_004006.2(DMD):c.2991C>G:p.Tyr997Ter	coding	Pathogenic
X	32468689	C	G	C32468689G	DMD	NM_004006.2(DMD):c.2971G>C:p.Glu991Gln	coding	Benign/Likely_benign
X	32468692	G	A	G32468692A	DMD	NM_000109.4(DMD):c.2944C>T:p.Gln982Ter	coding	Pathogenic
X	32468704	G	A	G32468704A	DMD	NM_004006.2(DMD):c.2956C>T:p.Gln986Ter	coding	Pathogenic
X	32468712	T	A	T32468712A	DMD	NM_000109.4(DMD):c.2926-2A>T	noncoding	Pathogenic
X	32468712	T	C	T32468712C	DMD	NM_000109.4(DMD):c.2926-2A>G	noncoding	Pathogenic
X	32472163	C	T	C32472163T	DMD	NM_004006.2(DMD):c.2949+1G>A	noncoding	Pathogenic
X	32472168	A	T	A32472168T	DMD	NM_004006.3(DMD):c.2945T>A:p.Leu982Ter	coding	Pathogenic
X	32472187	C	A	C32472187A	DMD	NM_004006.3(DMD):c.2926G>T:p.Glu976Ter	coding	Pathogenic
X	32472229	G	C	G32472229C	DMD	NM_004006.2(DMD):c.2884C>G:p.Leu962Val	coding	Benign/Likely_benign
X	32472244	G	A	G32472244A	DMD	NM_004006.2(DMD):c.2869C>T:p.Gln957Ter	coding	Pathogenic
X	32472252	C	T	C32472252T	DMD	NM_000109.4(DMD):c.2837G>A:p.Trp946Ter	coding	Pathogenic
X	32472271	T	C	T32472271C	DMD	NM_004006.2(DMD):c.2842A>G:p.Met948Val	coding	Benign
X	32472297	A	T	A32472297T	DMD	NM_000109.4(DMD):c.2792T>A:p.Leu931Ter	coding	Pathogenic
X	32472310	C	A	C32472310A	DMD	NM_004006.2(DMD):c.2804-1G>T	coding	Pathogenic
X	32472310	C	G	C32472310G	DMD	NM_004006.3(DMD):c.2804-1G>C	coding	Pathogenic
X	32472310	C	T	C32472310T	DMD	NM_004006.2(DMD):c.2804-1G>A	coding	Pathogenic
X	32472311	T	A	T32472311A	DMD	NM_000109.4(DMD):c.2780-2A>T	noncoding	Pathogenic
X	32472311	T	G	T32472311G	DMD	NM_004006.2(DMD):c.2804-2A>C	noncoding	Pathogenic
X	32472591	G	C	G32472591C	DMD	NM_004006.2(DMD):c.2804-282C>G	noncoding	Benign
X	32484918	C	A	C32484918A	DMD	NM_004006.2(DMD):c.2803+1G>T	noncoding	Pathogenic
X	32484918	C	G	C32484918G	DMD	NM_000109.4(DMD):c.2779+1G>C	noncoding	Pathogenic
X	32484925	G	A	G32484925A	DMD	NM_004006.2(DMD):c.2797C>T:p.Gln933Ter	coding	Pathogenic
X	32484931	C	A	C32484931A	DMD	NM_004006.2(DMD):c.2791G>T:p.Glu931Ter	coding	Pathogenic
X	32484946	G	A	G32484946A	DMD	NM_004006.2(DMD):c.2776C>T:p.Gln926Ter	coding	Pathogenic
X	32484964	G	A	G32484964A	DMD	NM_004006.2(DMD):c.2758C>T:p.Gln920Ter	coding	Pathogenic
X	32484967	T	A	T32484967A	DMD	NM_000109.4(DMD):c.2731A>T:p.Lys911Ter	coding	Pathogenic
X	32484977	T	G	T32484977G	DMD	NM_004006.2(DMD):c.2745A>C:p.Thr915=	coding	Benign/Likely_benign
X	32485018	G	A	G32485018A	DMD	NM_004006.2(DMD):c.2704C>T:p.Gln902Ter	coding	Pathogenic
X	32485053	A	T	A32485053T	DMD	NM_004006.2(DMD):c.2669T>A:p.Leu890Ter	coding	Pathogenic
X	32485055	T	A	T32485055A	DMD	NM_004006.2(DMD):c.2667A>T:p.Arg889=	coding	Benign
X	32485057	G	A	G32485057A	DMD	NM_004006.2(DMD):c.2665C>T:p.Arg889Ter	coding	Pathogenic
X	32485072	G	A	G32485072A	DMD	NM_004006.2(DMD):c.2650C>T:p.Gln884Ter	coding	Pathogenic
X	32485077	T	C	T32485077C	DMD	NM_004006.3(DMD):c.2645A>G:p.Asp882Gly	coding	Benign
X	32485080	G	T	G32485080T	DMD	NM_004006.3(DMD):c.2642C>A:p.Ser881Ter	coding	Pathogenic
X	32485100	C	A	C32485100A	DMD	NM_004006.2(DMD):c.2623-1G>T	coding	Pathogenic
X	32485102	G	C	G32485102C	DMD	NM_004006.2(DMD):c.2623-3C>G	noncoding	Pathogenic
X	32485108	T	C	T32485108C	DMD	NM_004006.2(DMD):c.2623-9A>G	noncoding	Benign
X	32485110	G	C	G32485110C	DMD	NM_004006.3(DMD):c.2623-11C>G	noncoding	Benign
X	32491244	T	C	T32491244C	DMD	NM_000109.4(DMD):c.2598+33A>G	noncoding	Benign
X	32491276	C	A	C32491276A	DMD	NM_004006.3(DMD):c.2622+1G>T	noncoding	Pathogenic
X	32491276	C	T	C32491276T	DMD	NM_004006.2(DMD):c.2622+1G>A	noncoding	Pathogenic
X	32491288	T	A	T32491288A	DMD	NM_004006.2(DMD):c.2611A>T:p.Lys871Ter	coding	Pathogenic
X	32491292	C	G	C32491292G	DMD	NM_004006.2(DMD):c.2607G>C:p.Gln869His	coding	Benign/Likely_benign
X	32491330	G	A	G32491330A	DMD	NM_004006.3(DMD):c.2569C>T:p.Pro857Ser	coding	Benign/Likely_benign
X	32491343	C	T	C32491343T	DMD	NM_000109.4(DMD):c.2532G>A:p.Trp844Ter	coding	Pathogenic
X	32491344	C	T	C32491344T	DMD	NM_004006.2(DMD):c.2555G>A:p.Trp852Ter	coding	Pathogenic
X	32491369	G	A	G32491369A	DMD	NM_004006.3(DMD):c.2530C>T:p.Gln844Ter	coding	Pathogenic
X	32491387	G	A	G32491387A	DMD	NM_000109.4(DMD):c.2488C>T:p.Gln830Ter	coding	Pathogenic
X	32491414	G	A	G32491414A	DMD	NM_000109.4(DMD):c.2461C>T:p.Gln821Ter	coding	Pathogenic
X	32491415	A	C	A32491415C	DMD	NM_000109.4(DMD):c.2460T>G:p.Tyr820Ter	coding	Pathogenic
X	32491420	C	A	C32491420A	DMD	NM_000109.4(DMD):c.2455G>T:p.Glu819Ter	coding	Pathogenic
X	32491438	C	A	C32491438A	DMD	NM_004006.3(DMD):c.2461G>T:p.Glu821Ter	coding	Pathogenic
X	32491451	G	T	G32491451T	DMD	NM_004006.3(DMD):c.2448C>A:p.Cys816Ter	coding	Pathogenic
X	32491459	C	A	C32491459A	DMD	NM_004006.3(DMD):c.2440G>T:p.Glu814Ter	coding	Pathogenic
X	32491463	C	T	C32491463T	DMD	NM_000109.4(DMD):c.2412G>A:p.Trp804Ter	coding	Pathogenic
X	32491475	C	G	C32491475G	DMD	NM_004006.2(DMD):c.2424G>C:p.Leu808=	coding	Benign
X	32491480	G	A	G32491480A	DMD	NM_004006.2(DMD):c.2419C>T:p.Gln807Ter	coding	Pathogenic
X	32491483	C	A	C32491483A	DMD	NM_000109.4(DMD):c.2392G>T:p.Glu798Ter	coding	Pathogenic
X	32491492	G	A	G32491492A	DMD	NM_004006.2(DMD):c.2407C>T:p.Gln803Ter	coding	Pathogenic
X	32491508	A	C	A32491508C	DMD	NM_004006.3(DMD):c.2391T>G:p.Asn797Lys	coding	Benign/Likely_benign
X	32491513	C	T	C32491513T	DMD	NM_004006.2(DMD):c.2386G>A:p.Val796Ile	coding	Benign/Likely_benign
X	32491519	C	A	C32491519A	DMD	NM_000109.4(DMD):c.2357-1G>T	coding	Pathogenic
X	32491520	T	G	T32491520G	DMD	NM_004006.3(DMD):c.2381-2A>C	noncoding	Pathogenic
X	32491521	A	G	A32491521G	DMD	NM_004006.2(DMD):c.2381-3T>C	noncoding	Benign
X	32501744	C	T	C32501744T	DMD	NM_004006.3(DMD):c.2380+11G>A	noncoding	Benign
X	32501745	G	A	G32501745A	DMD	NM_004006.2(DMD):c.2380+10C>T	noncoding	Benign/Likely_benign
X	32501752	T	G	T32501752G	DMD	NM_000109.4(DMD):c.2356+3A>C	noncoding	Pathogenic
X	32501754	C	G	C32501754G	DMD	NM_000109.4(DMD):c.2356+1G>C	noncoding	Pathogenic
X	32501754	C	T	C32501754T	DMD	NM_004006.3(DMD):c.2380+1G>A	noncoding	Pathogenic
X	32501767	G	A	G32501767A	DMD	NM_004006.2(DMD):c.2368C>T:p.Gln790Ter	coding	Pathogenic
X	32501787	G	C	G32501787C	DMD	NM_004006.3(DMD):c.2348C>G:p.Ser783Ter	coding	Pathogenic
X	32501803	G	A	G32501803A	DMD	NM_004006.2(DMD):c.2332C>T:p.Gln778Ter	coding	Pathogenic
X	32501804	C	G	C32501804G	DMD	NM_004006.2(DMD):c.2331G>C:p.Leu777=	coding	Benign/Likely_benign
X	32501818	T	C	T32501818C	DMD	NM_000109.4(DMD):c.2293A>G:p.Lys765Glu	coding	Pathogenic
X	32501821	C	A	C32501821A	DMD	NM_000109.4(DMD):c.2290G>T:p.Glu764Ter	coding	Pathogenic
X	32501827	T	A	T32501827A	DMD	NM_000109.4(DMD):c.2284A>T:p.Lys762Ter	coding	Pathogenic
X	32501831	T	C	T32501831C	DMD	NM_004006.2(DMD):c.2304A>G:p.Arg768=	coding	Benign
X	32501833	G	A	G32501833A	DMD	NM_000109.4(DMD):c.2278C>T:p.Arg760Ter	coding	Pathogenic
X	32501857	C	G	C32501857G	DMD	NM_004006.2(DMD):c.2293-15G>C	noncoding	Benign
X	32517999	A	G	A32517999G	DMD	NM_004006.2(DMD):c.2292+9T>C	noncoding	Benign
X	32518024	A	T	A32518024T	DMD	NM_004006.2(DMD):c.2276T>A:p.Leu759Ter	coding	Pathogenic
X	32518039	C	A	C32518039A	DMD	NM_004006.3(DMD):c.2261G>T:p.Gly754Val	coding	Benign/Likely_benign
X	32518043	C	A	C32518043A	DMD	NM_004006.2(DMD):c.2257G>T:p.Glu753Ter	coding	Pathogenic
X	32518073	G	A	G32518073A	DMD	NM_004006.3(DMD):c.2227C>T:p.Gln743Ter	coding	Pathogenic
X	32518085	C	A	C32518085A	DMD	NM_004006.2(DMD):c.2215G>T:p.Glu739Ter	coding	Pathogenic
X	32518098	C	T	C32518098T	DMD	NM_004006.2(DMD):c.2202G>A:p.Trp734Ter	coding	Pathogenic
X	32518127	C	A	C32518127A	DMD	NM_004006.2(DMD):c.2173G>T:p.Asp725Tyr	coding	Benign
X	32518132	C	T	C32518132T	DMD	NM_004006.3(DMD):c.2169-1G>A	coding	Pathogenic
X	32518335	A	G	A32518335G	DMD	NM_004006.2(DMD):c.2169-204T>C	noncoding	Benign
X	32544881	T	C	T32544881C	DMD	NM_004006.2(DMD):c.2168+278A>G	noncoding	Benign
X	32544910	T	A	T32544910A	DMD	NM_004006.2(DMD):c.2168+249A>T	noncoding	Benign
X	32544937	C	T	C32544937T	DMD	NM_004006.2(DMD):c.2168+222G>A	noncoding	Benign
X	32544968	C	G	C32544968G	DMD	NM_004006.2(DMD):c.2168+191G>C	noncoding	Benign
X	32545146	A	G	A32545146G	DMD	NM_004006.3(DMD):c.2168+13T>C	noncoding	Benign
X	32545157	A	C	A32545157C	DMD	NM_000109.4(DMD):c.2144+2T>G	noncoding	Pathogenic
X	32545158	C	T	C32545158T	DMD	NM_004006.2(DMD):c.2168+1G>A	noncoding	Pathogenic
X	32545184	T	A	T32545184A	DMD	NM_004006.3(DMD):c.2143A>T:p.Thr715Ser	coding	Benign/Likely_benign
X	32545226	C	A	C32545226A	DMD	NM_000109.4(DMD):c.2077G>T:p.Glu693Ter	coding	Pathogenic
X	32545250	G	A	G32545250A	DMD	NM_004006.2(DMD):c.2077C>T:p.Gln693Ter	coding	Pathogenic
X	32545295	G	A	G32545295A	DMD	NM_000109.4(DMD):c.2008C>T:p.Gln670Ter	coding	Pathogenic
X	32545310	G	A	G32545310A	DMD	NM_000109.4(DMD):c.1993C>T:p.Gln665Ter	coding	Pathogenic
X	32545371	A	C	A32545371C	DMD	NM_004006.2(DMD):c.1993-37T>G	noncoding	Benign
X	32565507	T	A	T32565507A	DMD	NM_004006.2(DMD):c.1992+195A>T	noncoding	Benign
X	32565701	C	A	C32565701A	DMD	NM_004006.2(DMD):c.1992+1G>T	noncoding	Pathogenic
X	32565704	G	A	G32565704A	DMD	NM_004006.2(DMD):c.1990C>T:p.Gln664Ter	coding	Pathogenic
X	32565728	G	A	G32565728A	DMD	NM_004006.3(DMD):c.1966C>T:p.Gln656Ter	coding	Pathogenic
X	32565742	C	T	C32565742T	DMD	NM_000109.4(DMD):c.1928G>A:p.Trp643Ter	coding	Pathogenic
X	32565782	G	A	G32565782A	DMD	NM_000109.4(DMD):c.1888C>T:p.Gln630Ter	coding	Pathogenic
X	32565806	T	C	T32565806C	DMD	NM_004006.2(DMD):c.1888A>G:p.Thr630Ala	coding	Benign/Likely_benign
X	32565808	G	T	G32565808T	DMD	NM_000109.4(DMD):c.1862C>A:p.Ser621Ter	coding	Pathogenic
X	32565825	G	A	G32565825A	DMD	NM_004006.3(DMD):c.1869C>T:p.Leu623=	coding	Benign
X	32565825	G	C	G32565825C	DMD	NM_004006.2(DMD):c.1869C>G:p.Leu623=	coding	Benign/Likely_benign
X	32565829	G	C	G32565829C	DMD	NM_004006.2(DMD):c.1865C>G:p.Ser622Ter	coding	Pathogenic
X	32565829	G	T	G32565829T	DMD	NM_004006.2(DMD):c.1865C>A:p.Ser622Ter	coding	Pathogenic
X	32565839	T	A	T32565839A	DMD	NM_004006.3(DMD):c.1855A>T:p.Lys619Ter	coding	Pathogenic
X	32565857	T	A	T32565857A	DMD	NM_004006.3(DMD):c.1837A>T:p.Lys613Ter	coding	Pathogenic
X	32565870	C	T	C32565870T	DMD	NM_004006.2(DMD):c.1824G>A:p.Ala608=	coding	Benign/Likely_benign
X	32573201	G	T	G32573201T	DMD	NM_004006.2(DMD):c.1812+329C>A	noncoding	Benign
X	32573412	T	C	T32573412C	DMD	NM_004006.2(DMD):c.1812+118A>G	noncoding	Benign
X	32573528	A	T	A32573528T	DMD	NM_000109.4(DMD):c.1788+2T>A	noncoding	Pathogenic
X	32573529	C	T	C32573529T	DMD	NM_004006.3(DMD):c.1812+1G>A	noncoding	Pathogenic
X	32573530	G	A	G32573530A	DMD	NM_004006.2(DMD):c.1812C>T:p.Ala604=	coding	Benign/Likely_benign
X	32573533	C	T	C32573533T	DMD	NM_004006.2(DMD):c.1809G>A:p.Leu603=	coding	Benign/Likely_benign
X	32573565	G	A	G32573565A	DMD	NM_004006.3(DMD):c.1777C>T:p.Gln593Ter	coding	Pathogenic
X	32573592	T	A	T32573592A	DMD	NM_004006.3(DMD):c.1750A>T:p.Lys584Ter	coding	Pathogenic
X	32573624	G	A	G32573624A	DMD	NM_004006.3(DMD):c.1718C>T:p.Ala573Val	coding	Benign
X	32573629	A	T	A32573629T	DMD	NM_004006.2(DMD):c.1713T>A:p.Phe571Leu	coding	Benign
X	32573638	C	A	C32573638A	DMD	NM_004006.2(DMD):c.1705-1G>T	coding	Pathogenic
X	32573639	T	C	T32573639C	DMD	NM_004006.2(DMD):c.1705-2A>G	noncoding	Pathogenic
X	32573694	A	G	A32573694G	DMD	NM_000109.4(DMD):c.1680+51T>C	noncoding	Benign
X	32573744	C	T	C32573744T	DMD	NM_004006.2(DMD):c.1704+1G>A	noncoding	Pathogenic
X	32573766	C	T	C32573766T	DMD	NM_004006.2(DMD):c.1683G>A:p.Trp561Ter	coding	Pathogenic
X	32573783	C	T	C32573783T	DMD	NM_004006.2(DMD):c.1666G>A:p.Asp556Asn	coding	Benign/Likely_benign
X	32573786	G	A	G32573786A	DMD	NM_004006.2(DMD):c.1663C>T:p.Gln555Ter	coding	Pathogenic
X	32573796	C	T	C32573796T	DMD	NM_004006.2(DMD):c.1653G>A:p.Trp551Ter	coding	Pathogenic
X	32573797	C	T	C32573797T	DMD	NM_004006.2(DMD):c.1652G>A:p.Trp551Ter	coding	Pathogenic
X	32573811	C	T	C32573811T	DMD	NM_004006.2(DMD):c.1638G>A:p.Trp546Ter	coding	Pathogenic
X	32573812	C	T	C32573812T	DMD	NM_004006.2(DMD):c.1637G>A:p.Trp546Ter	coding	Pathogenic
X	32573814	T	C	T32573814C	DMD	NM_004006.3(DMD):c.1635A>G:p.Arg545=	coding	Benign
X	32573829	C	T	C32573829T	DMD	NM_000109.4(DMD):c.1596G>A:p.Trp532Ter	coding	Pathogenic
X	32573830	C	T	C32573830T	DMD	NM_004006.2(DMD):c.1619G>A:p.Trp540Ter	coding	Pathogenic
X	32573834	G	A	G32573834A	DMD	NM_004006.2(DMD):c.1615C>T:p.Arg539Ter	coding	Pathogenic
X	32573848	T	G	T32573848G	DMD	NM_000109.4(DMD):c.1579-2A>C	noncoding	Pathogenic
X	32595756	C	A	C32595756A	DMD	NM_000109.4(DMD):c.1578+1G>T	noncoding	Pathogenic
X	32595756	C	T	C32595756T	DMD	NM_004006.2(DMD):c.1602+1G>A	noncoding	Pathogenic
X	32595765	G	A	G32595765A	DMD	NM_000109.4(DMD):c.1570C>T:p.Gln524Ter	coding	Pathogenic
X	32595784	T	C	T32595784C	DMD	NM_004006.2(DMD):c.1575A>G:p.Ala525=	coding	Benign/Likely_benign
X	32595805	A	T	A32595805T	DMD	NM_004006.2(DMD):c.1554T>A:p.Asp518Glu	coding	Benign/Likely_benign
X	32595846	C	G	C32595846G	DMD	NM_004006.2(DMD):c.1513G>C:p.Val505Leu	coding	Benign/Likely_benign
X	32595855	G	A	G32595855A	DMD	NM_004006.2(DMD):c.1504C>T:p.Gln502Ter	coding	Pathogenic
X	32595856	T	C	T32595856C	DMD	NM_004006.3(DMD):c.1503A>G:p.Glu501=	coding	Benign/Likely_benign
X	32595870	G	A	G32595870A	DMD	NM_000109.4(DMD):c.1465C>T:p.Gln489Ter	coding	Pathogenic
X	32595877	C	G	C32595877G	DMD	NM_004006.2(DMD):c.1483-1G>C	coding	Pathogenic
X	32595883	G	C	G32595883C	DMD	NM_004006.2(DMD):c.1483-7C>G	noncoding	Benign
X	32595986	C	T	C32595986T	DMD	NM_004006.2(DMD):c.1483-110G>A	noncoding	Benign
X	32595999	C	A	C32595999A	DMD	NM_004006.2(DMD):c.1483-123G>T	noncoding	Benign
X	32596130	A	G	A32596130G	DMD	NM_004006.2(DMD):c.1483-254T>C	noncoding	Benign
X	32614212	C	G	C32614212G	DMD	NM_004006.2(DMD):c.1482+91G>C	noncoding	Benign
X	32614302	C	A	C32614302A	DMD	NM_004006.2(DMD):c.1482+1G>T	noncoding	Pathogenic
X	32614302	C	G	C32614302G	DMD	NM_000109.4(DMD):c.1458+1G>C	noncoding	Pathogenic
X	32614320	G	A	G32614320A	DMD	NM_000109.4(DMD):c.1441C>T:p.Gln481Ter	coding	Pathogenic
X	32614323	G	A	G32614323A	DMD	NM_004006.2(DMD):c.1462C>T:p.Arg488Cys	coding	Benign/Likely_benign
X	32614347	C	A	C32614347A	DMD	NM_000109.4(DMD):c.1414G>T:p.Gly472Ter	coding	Pathogenic
X	32614368	T	A	T32614368A	DMD	NM_000109.4(DMD):c.1393A>T:p.Lys465Ter	coding	Pathogenic
X	32614397	C	T	C32614397T	DMD	NM_004006.2(DMD):c.1388G>A:p.Trp463Ter	coding	Pathogenic
X	32614407	A	G	A32614407G	DMD	NM_004006.2(DMD):c.1378T>C:p.Leu460=	coding	Benign/Likely_benign
X	32614419	T	A	T32614419A	DMD	NM_004006.2(DMD):c.1366A>T:p.Lys456Ter	coding	Pathogenic
X	32614428	G	A	G32614428A	DMD	NM_004006.3(DMD):c.1357C>T:p.Gln453Ter	coding	Pathogenic
X	32614462	T	C	T32614462C	DMD	NM_000109.4(DMD):c.1308-9A>G	noncoding	Pathogenic
X	32614471	G	A	G32614471A	DMD	NM_004006.2(DMD):c.1332-18C>T	noncoding	Benign
X	32614739	A	G	A32614739G	DMD	NM_004006.2(DMD):c.1332-286T>C	noncoding	Benign
X	32644001	C	G	C32644001G	DMD	NM_004006.2(DMD):c.1331+131G>C	noncoding	Benign
X	32644005	C	T	C32644005T	DMD	NM_004006.2(DMD):c.1331+127G>A	noncoding	Benign
X	32644077	T	C	T32644077C	DMD	NM_004006.2(DMD):c.1331+55A>G	noncoding	Benign
X	32644131	C	T	C32644131T	DMD	NM_004006.2(DMD):c.1331+1G>A	noncoding	Pathogenic
X	32644139	G	A	G32644139A	DMD	NM_004006.2(DMD):c.1324C>T:p.Gln442Ter	coding	Pathogenic
X	32644171	C	T	C32644171T	DMD	NM_004006.2(DMD):c.1292G>A:p.Trp431Ter	coding	Pathogenic
X	32644175	T	A	T32644175A	DMD	NM_004006.2(DMD):c.1288A>T:p.Arg430Ter	coding	Pathogenic
X	32644177	G	C	G32644177C	DMD	NM_000109.4(DMD):c.1262C>G:p.Ser421Ter	coding	Pathogenic
X	32644177	G	T	G32644177T	DMD	NM_000109.4(DMD):c.1262C>A:p.Ser421Ter	coding	Pathogenic
X	32644202	G	A	G32644202A	DMD	NM_004006.2(DMD):c.1261C>T:p.Gln421Ter	coding	Pathogenic
X	32644208	C	A	C32644208A	DMD	NM_000109.4(DMD):c.1231G>T:p.Glu411Ter	coding	Pathogenic
X	32644225	G	T	G32644225T	DMD	NM_004006.3(DMD):c.1238C>A:p.Ser413Ter	coding	Pathogenic
X	32644238	T	A	T32644238A	DMD	NM_004006.3(DMD):c.1225A>T:p.Thr409Ser	coding	Benign
X	32644279	C	T	C32644279T	DMD	NM_004006.2(DMD):c.1184G>A:p.Arg395Gln	coding	Benign/Likely_benign
X	32644314	C	T	C32644314T	DMD	NM_004006.2(DMD):c.1150-1G>A	coding	Pathogenic
X	32644315	T	A	T32644315A	DMD	NM_004006.3(DMD):c.1150-2A>T	noncoding	Pathogenic
X	32644315	T	C	T32644315C	DMD	NM_000109.4(DMD):c.1126-2A>G	noncoding	Pathogenic
X	32644963	C	T	C32644963T	DMD	NM_004006.2(DMD):c.1149+1G>A	noncoding	Pathogenic
X	32644966	C	A	C32644966A	DMD	NM_004006.3(DMD):c.1147G>T:p.Glu383Ter	coding	Pathogenic
X	32644982	G	C	G32644982C	DMD	NM_004006.2(DMD):c.1131C>G:p.Asp377Glu	coding	Benign
X	32645020	G	A	G32645020A	DMD	NM_004006.2(DMD):c.1093C>T:p.Gln365Ter	coding	Pathogenic
X	32645026	G	A	G32645026A	DMD	NM_004006.3(DMD):c.1087C>T:p.Gln363Ter	coding	Pathogenic
X	32645038	C	A	C32645038A	DMD	NM_004006.2(DMD):c.1075G>T:p.Glu359Ter	coding	Pathogenic
X	32645051	C	T	C32645051T	DMD	NM_000109.4(DMD):c.1038G>A:p.Trp346Ter	coding	Pathogenic
X	32645052	C	T	C32645052T	DMD	NM_004006.2(DMD):c.1061G>A:p.Trp354Ter	coding	Pathogenic
X	32645054	C	T	C32645054T	DMD	NM_004006.2(DMD):c.1059G>A:p.Ser353=	coding	Benign/Likely_benign
X	32645065	C	A	C32645065A	DMD	NM_000109.4(DMD):c.1024G>T:p.Glu342Ter	coding	Pathogenic
X	32645085	C	T	C32645085T	DMD	NM_004006.2(DMD):c.1028G>A:p.Arg343His	coding	Benign/Likely_benign
X	32645101	C	A	C32645101A	DMD	NM_000109.4(DMD):c.988G>T:p.Glu330Ter	coding	Pathogenic
X	32645107	C	A	C32645107A	DMD	NM_004006.2(DMD):c.1006G>T:p.Glu336Ter	coding	Pathogenic
X	32645115	G	T	G32645115T	DMD	NM_004006.3(DMD):c.998C>A:p.Ser333Ter	coding	Pathogenic
X	32645128	A	T	A32645128T	DMD	NM_004006.2(DMD):c.985T>A:p.Ser329Thr	coding	Benign
X	32645137	C	A	C32645137A	DMD	NM_004006.3(DMD):c.976G>T:p.Glu326Ter	coding	Pathogenic
X	32645153	C	T	C32645153T	DMD	NM_004006.3(DMD):c.961-1G>A	coding	Pathogenic
X	32645261	T	C	T32645261C	DMD	NM_004006.2(DMD):c.961-109A>G	noncoding	Benign
X	32645300	G	A	G32645300A	DMD	NM_004006.2(DMD):c.961-148C>T	noncoding	Benign
X	32650983	G	A	G32650983A	DMD	NM_004006.2(DMD):c.961-5831C>T	noncoding	Pathogenic/Likely_pathogenic
X	32697540	C	T	C32697540T	DMD	NM_004006.2(DMD):c.960+330G>A	noncoding	Benign
X	32697558	A	C	A32697558C	DMD	NM_004006.2(DMD):c.960+312T>G	noncoding	Benign
X	32697907	G	A	G32697907A	DMD	NM_004006.2(DMD):c.923C>T:p.Thr308Ile	coding	Benign
X	32697912	A	T	A32697912T	DMD	NM_004006.2(DMD):c.918T>A:p.Tyr306Ter	coding	Pathogenic
X	32697936	G	A	G32697936A	DMD	NM_004006.2(DMD):c.894C>T:p.Ser298=	coding	Benign
X	32697947	G	A	G32697947A	DMD	NM_004006.2(DMD):c.883C>T:p.Arg295Ter	coding	Pathogenic
X	32697993	C	T	C32697993T	DMD	NM_004006.3(DMD):c.837G>A:p.Thr279=	coding	Benign
X	32697995	T	C	T32697995C	DMD	NM_000109.4(DMD):c.811A>G:p.Thr271Ala	coding	Pathogenic
X	32698001	G	A	G32698001A	DMD	NM_004006.2(DMD):c.832-3C>T	noncoding	Benign/Likely_benign
X	32698015	G	T	G32698015T	DMD	NM_004006.3(DMD):c.832-17C>A	noncoding	Benign
X	32698016	G	C	G32698016C	DMD	NM_004006.2(DMD):c.832-18C>G	noncoding	Benign
X	32699111	C	A	C32699111A	DMD	NM_004006.2(DMD):c.831+1G>T	noncoding	Pathogenic
X	32699111	C	G	C32699111G	DMD	NM_004006.2(DMD):c.831+1G>C	noncoding	Pathogenic
X	32699111	C	T	C32699111T	DMD	NM_004006.2(DMD):c.831+1G>A	noncoding	Pathogenic
X	32699121	A	T	A32699121T	DMD	NM_004006.3(DMD):c.822T>A:p.Tyr274Ter	coding	Pathogenic
X	32699132	G	A	G32699132A	DMD	NM_004006.3(DMD):c.811C>T:p.Gln271Ter	coding	Pathogenic
X	32699141	A	G	A32699141G	DMD	NM_004006.3(DMD):c.802T>C:p.Leu268=	coding	Benign/Likely_benign
X	32699195	C	A	C32699195A	DMD	NM_000109.4(DMD):c.724G>T:p.Glu242Ter	coding	Pathogenic
X	32699219	G	A	G32699219A	DMD	NM_000109.4(DMD):c.700C>T:p.Gln234Ter	coding	Pathogenic
X	32699247	G	C	G32699247C	DMD	NM_004006.2(DMD):c.696C>G:p.Ile232Met	coding	Benign/Likely_benign
X	32699250	G	C	G32699250C	DMD	NM_004006.3(DMD):c.693C>G:p.Tyr231Ter	coding	Pathogenic
X	32699252	A	T	A32699252T	DMD	NM_000109.4(DMD):c.667T>A:p.Tyr223Asn	coding	Pathogenic
X	32699257	A	C	A32699257C	DMD	NM_004006.2(DMD):c.686T>G:p.Leu229Ter	coding	Pathogenic
X	32699277	A	C	A32699277C	DMD	NM_004006.3(DMD):c.666T>G:p.Tyr222Ter	coding	Pathogenic
X	32809348	A	G	A32809348G	DMD	NM_004006.2(DMD):c.649+145T>C	noncoding	Benign
X	32809488	C	A	C32809488A	DMD	NM_000109.4(DMD):c.625+5G>T	noncoding	Pathogenic
X	32809492	C	A	C32809492A	DMD	NM_000109.4(DMD):c.625+1G>T	noncoding	Pathogenic
X	32809492	C	T	C32809492T	DMD	NM_000109.4(DMD):c.625+1G>A	noncoding	Pathogenic
X	32809526	G	A	G32809526A	DMD	NM_004006.2(DMD):c.616C>T:p.Gln206Ter	coding	Pathogenic
X	32809527	A	T	A32809527T	DMD	NM_000109.4(DMD):c.591T>A:p.Tyr197Ter	coding	Pathogenic
X	32809553	C	A	C32809553A	DMD	NM_004006.2(DMD):c.589G>T:p.Glu197Ter	coding	Pathogenic
X	32809559	G	A	G32809559A	DMD	NM_004006.2(DMD):c.583C>T:p.Arg195Ter	coding	Pathogenic
X	32809570	G	C	G32809570C	DMD	NM_000109.4(DMD):c.548C>G:p.Ser183Ter	coding	Pathogenic
X	32809570	G	T	G32809570T	DMD	NM_004006.3(DMD):c.572C>A:p.Ser191Ter	coding	Pathogenic
X	32809577	G	A	G32809577A	DMD	NM_000109.4(DMD):c.541C>T:p.Gln181Ter	coding	Pathogenic
X	32809612	C	G	C32809612G	DMD	NM_004006.2(DMD):c.531-1G>C	coding	Pathogenic
X	32809613	T	C	T32809613C	DMD	NM_004006.2(DMD):c.531-2A>G	noncoding	Pathogenic
X	32816495	G	T	G32816495T	DMD	NM_000109.4(DMD):c.479C>A:p.Ala160Asp	coding	Pathogenic
X	32816510	C	T	C32816510T	DMD	NM_004006.3(DMD):c.488G>A:p.Trp163Ter	coding	Pathogenic
X	32816541	G	A	G32816541A	DMD	NM_000109.4(DMD):c.433C>T:p.Gln145Ter	coding	Pathogenic
X	32816545	A	C	A32816545C	DMD	NM_004006.3(DMD):c.453T>G:p.Tyr151Ter	coding	Pathogenic
X	32816565	G	A	G32816565A	DMD	NM_004006.2(DMD):c.433C>T:p.Arg145Ter	coding	Pathogenic
X	32816641	C	T	C32816641T	DMD	NM_004006.2(DMD):c.358-1G>A	coding	Pathogenic
X	32816642	T	C	T32816642C	DMD	NM_004006.2(DMD):c.358-2A>G	noncoding	Pathogenic
X	32816779	C	T	C32816779T	DMD	NM_004006.2(DMD):c.358-139G>A	noncoding	Benign
X	32823297	G	A	G32823297A	DMD	NM_004006.2(DMD):c.355C>T:p.Gln119Ter	coding	Pathogenic
X	32823316	C	T	C32823316T	DMD	NM_004010.3(DMD):c.-34G>A	coding	Pathogenic
X	32823319	A	G	A32823319G	DMD	NM_004006.2(DMD):c.333T>C:p.Ile111=	coding	Benign
X	32823369	C	A	C32823369A	DMD	NM_004010.3(DMD):c.-87G>T	coding	Pathogenic
X	32823389	T	C	T32823389C	DMD	NM_004006.2(DMD):c.265-2A>G	noncoding	Pathogenic
X	32823850	T	C	T32823850C	DMD	NM_004006.3(DMD):c.265-463A>G	noncoding	Pathogenic
X	32824115	G	T	G32824115T	DMD	NM_004006.2(DMD):c.265-728C>A	noncoding	Benign
X	32844778	C	T	C32844778T	DMD	NM_004006.3(DMD):c.264+5G>A	noncoding	Pathogenic
X	32844782	C	T	C32844782T	DMD	NM_000109.4(DMD):c.240+1G>A	noncoding	Pathogenic
X	32844794	G	A	G32844794A	DMD	NM_004010.3(DMD):c.-117C>T	coding	Pathogenic
X	32844861	C	A	C32844861A	DMD	NM_004006.2(DMD):c.187-1G>T	coding	Pathogenic
X	32844862	T	C	T32844862C	DMD	NM_004006.3(DMD):c.187-2A>G	noncoding	Pathogenic
X	32849485	A	G	A32849485G	DMD	NM_004006.2(DMD):c.186+243T>C	noncoding	Benign
X	32849726	A	T	A32849726T	DMD	NM_000109.4(DMD):c.162+2T>A	noncoding	Pathogenic
X	32849727	C	T	C32849727T	DMD	NM_004006.2(DMD):c.186+1G>A	noncoding	Pathogenic
X	32849736	G	A	G32849736A	DMD	NM_004006.2(DMD):c.178C>T:p.Gln60Ter	coding	Pathogenic
X	32849753	A	C	A32849753C	DMD	NM_004010.3(DMD):c.-209T>G	coding	Pathogenic
X	32849781	G	A	G32849781A	DMD	NM_004010.3(DMD):c.-237C>T	coding	Pathogenic
X	32849814	T	A	T32849814A	DMD	NM_004006.2(DMD):c.100A>T:p.Lys34Ter	coding	Pathogenic
X	32849821	C	T	C32849821T	DMD	NM_004006.2(DMD):c.94-1G>A	coding	Pathogenic
X	32849829	A	T	A32849829T	DMD	NM_004006.2(DMD):c.94-9T>A	noncoding	Benign/Likely_benign
X	32849953	C	T	C32849953T	DMD	NM_004006.2(DMD):c.94-133G>A	noncoding	Benign
X	33014519	T	A	T33014519A	DMD	NM_004006.2(DMD):c.93+5620A>T	noncoding	Benign
X	33014538	C	A	C33014538A	DMD	NM_004006.3(DMD):c.93+5601G>T	noncoding	Benign
X	33014546	A	T	A33014546T	DMD	NM_004006.3(DMD):c.93+5593T>A	noncoding	Benign
X	33014651	A	T	A33014651T	DMD	NM_004006.2(DMD):c.93+5488T>A	noncoding	Benign
X	33014669	A	G	A33014669G	DMD	NM_004006.2(DMD):c.93+5470T>C	noncoding	Benign
X	33019836	A	T	A33019836T	DMD	NM_004006.2(DMD):c.93+303T>A	noncoding	Benign
X	33019899	T	C	T33019899C	DMD	NM_004006.2(DMD):c.93+240A>G	noncoding	Benign
X	33020138	C	A	C33020138A	DMD	NM_004006.3(DMD):c.93+1G>T	noncoding	Pathogenic
X	33020138	C	G	C33020138G	DMD	NM_004006.2(DMD):c.93+1G>C	noncoding	Pathogenic
X	33020138	C	T	C33020138T	DMD	NM_004006.2(DMD):c.93+1G>A	noncoding	Pathogenic
X	33020194	C	T	C33020194T	DMD	NM_004010.3(DMD):c.-332G>A	coding	Benign
X	33128102	C	A	C33128102A	DMD	NM_004006.2(DMD):c.31+83180G>T	coding	Benign
X	33128361	C	T	C33128361T	DMD	NM_004006.2(DMD):c.31+82921G>A	coding	Benign
X	33128524	T	C	T33128524C	DMD	NM_004006.2(DMD):c.31+82758A>G	noncoding	Benign
X	33128539	C	T	C33128539T	DMD	NM_004006.2(DMD):c.31+82743G>A	noncoding	Benign
X	33174138	G	A	G33174138A	DMD	NM_004006.2(DMD):c.31+37144C>T	noncoding	Benign
X	33174171	A	C	A33174171C	DMD	NM_004006.2(DMD):c.31+37111T>G	noncoding	Benign
X	33174335	C	T	C33174335T	DMD	NM_000109.4(DMD):c.8-154135G>A	noncoding	Pathogenic
X	33174336	G	A	G33174336A	DMD	NM_004006.2(DMD):c.31+36946C>T	noncoding	Benign
X	33174650	T	C	T33174650C	DMD	NM_004006.2(DMD):c.31+36632A>G	noncoding	Benign
X	33210990	T	G	T33210990G	DMD	NM_000109.4(DMD):c.7+128269A>C	noncoding	Benign
X	33211277	C	T	C33211277T	DMD	NM_004006.3(DMD):c.31+5G>A	noncoding	Pathogenic
X	33211281	C	A	C33211281A	DMD	NM_004006.2(DMD):c.31+1G>T	noncoding	Pathogenic
X	33211281	C	G	C33211281G	DMD	NM_004006.2(DMD):c.31+1G>C	noncoding	Pathogenic
X	33211304	C	T	C33211304T	DMD	NM_004006.2(DMD):c.9G>A:p.Trp3Ter	coding	Pathogenic
X	33211320	A	T	A33211320T	DMD	NM_004006.3(DMD):c.-8T>A	coding	Benign
X	33211731	T	C	T33211731C	DMD	NM_000109.4(DMD):c.7+127528A>G	noncoding	Benign
X	33212119	T	A	T33212119A	DMD	NM_000109.4(DMD):c.7+127140A>T	noncoding	Benign
X	33212440	C	T	C33212440T	DMD	NM_000109.4(DMD):c.7+126819G>A	noncoding	Benign
X	33283874	T	C	T33283874C	DMD	NM_004006.2(DMD):c.-72562A>G	noncoding	Benign
X	33283879	A	G	A33283879G	DMD	NM_004006.2(DMD):c.-72567T>C	noncoding	Benign
X	33283911	A	G	A33283911G	DMD	NM_004006.2(DMD):c.-72599T>C	noncoding	Benign
X	33307573	G	A	G33307573A	DMD	NM_004006.2(DMD):c.-96261C>T	noncoding	Benign
X	33339155	G	A	G33339155A	DMD	NM_004006.2(DMD):c.-127843C>T	noncoding	Benign
X	33339475	T	C	T33339475C	DMD	NM_004006.2(DMD):c.-128163A>G	noncoding	Benign
X	33339722	T	G	T33339722G	DMD	NM_004006.2(DMD):c.-128410A>C	noncoding	Benign
X	33340083	G	A	G33340083A	DMD	NM_004006.2(DMD):c.-128771C>T	noncoding	Benign
X	35802419	G	A	G35802419A	MAGEB16	NM_001099921.2(MAGEB16):c.223G>A:p.Val75Ile	coding	Benign
X	37659631	G	A	G37659631A	LANCL3	NM_001170331.2(LANCL3):c.867G>A:p.Glu289=	coding	Benign
X	37686111	C	T	C37686111T	XK	NM_021083.4(XK):c.150C>T:p.Leu50=	coding	Benign
X	37694532	C	T	C37694532T	XK	NM_021083.4(XK):c.492C>T:p.Asp164=	coding	Benign
X	37694549	G	A	G37694549A	XK	NM_021083.4(XK):c.508+1G>A	coding	Pathogenic
X	37727635	G	A	G37727635A	XK	NM_021083.4(XK):c.509-1G>A	noncoding	Pathogenic
X	37727744	T	C	T37727744C	XK	NM_021083.4(XK):c.617T>C:p.Leu206Pro	coding	Benign
X	37728007	T	C	T37728007C	XK	NM_021083.4(XK):c.880T>C:p.Cys294Arg	coding	Pathogenic
X	37728022	C	T	C37728022T	XK	NM_021083.4(XK):c.895C>T:p.Gln299Ter	coding	Pathogenic
X	37728068	G	A	G37728068A	XK	NM_021083.4(XK):c.941G>A:p.Trp314Ter	coding	Pathogenic
X	37728142	A	T	A37728142T	XK	NM_021083.4(XK):c.1015A>T:p.Lys339Ter	coding	Pathogenic
X	37728235	T	G	T37728235G	XK	NM_021083.4(XK):c.1108T>G:p.Tyr370Asp	coding	Benign
X	37728348	G	A	G37728348A	XK	NM_021083.4(XK):c.1221G>A:p.Pro407=	coding	Benign
X	37780083	G	C	G37780083C	CYBB	NM_000397.4(CYBB):c.6G>C:p.Gly2=	coding	Benign
X	37780107	C	T	C37780107T	CYBB	NM_000397.4(CYBB):c.30C>T:p.Leu10=	coding	Benign
X	37780128	T	C	T37780128C	CYBB	NM_000397.3(CYBB):c.45+6T>C	noncoding	Pathogenic
X	37782081	T	C	T37782081C	CYBB	NM_000397.3(CYBB):c.46-7T>C	noncoding	Benign/Likely_benign
X	37783565	C	T	C37783565T	CYBB	NM_000397.3(CYBB):c.217C>T:p.Arg73Ter	coding	Pathogenic
X	37783600	G	A	G37783600A	CYBB	NM_000397.3(CYBB):c.252G>A:p.Ala84=	coding	Pathogenic
X	37783605	G	A	G37783605A	CYBB	NM_000397.4(CYBB):c.252+5G>A	noncoding	Pathogenic
X	37791993	C	T	C37791993T	CYBB	NM_000397.3(CYBB):c.271C>T:p.Arg91Ter	coding	Pathogenic
X	37792023	C	T	C37792023T	CYBB	NM_000397.3(CYBB):c.301C>T:p.His101Tyr	coding	Pathogenic
X	37792024	A	G	A37792024G	CYBB	NM_000397.3(CYBB):c.302A>G:p.His101Arg	coding	Pathogenic
X	37792060	G	T	G37792060T	CYBB	NM_000397.3(CYBB):c.337+1G>T	coding	Pathogenic
X	37793715	C	T	C37793715T	CYBB	NM_000397.4(CYBB):c.388C>T:p.Arg130Ter	coding	Pathogenic
X	37793775	G	T	G37793775T	CYBB	NM_000397.3(CYBB):c.448G>T:p.Glu150Ter	coding	Pathogenic
X	37793793	G	A	G37793793A	CYBB	NM_000397.3(CYBB):c.466G>A:p.Ala156Thr	coding	Pathogenic
X	37793796	C	T	C37793796T	CYBB	NM_000397.3(CYBB):c.469C>T:p.Arg157Ter	coding	Pathogenic
X	37793811	G	T	G37793811T	CYBB	NM_000397.3(CYBB):c.483+1G>T	coding	Pathogenic
X	37795949	A	T	A37795949T	CYBB	NM_000397.3(CYBB):c.484-2A>T	noncoding	Pathogenic
X	37795999	A	C	A37795999C	CYBB	NM_000397.3(CYBB):c.532A>C:p.Thr178Pro	coding	Pathogenic
X	37796074	G	T	G37796074T	CYBB	NM_000397.3(CYBB):c.607G>T:p.Glu203Ter	coding	Pathogenic/Likely_pathogenic
X	37796092	C	T	C37796092T	CYBB	NM_000397.3(CYBB):c.625C>T:p.His209Tyr	coding	Pathogenic
X	37796121	C	A	C37796121A	CYBB	NM_000397.3(CYBB):c.654C>A:p.Gly218=	coding	Benign/Likely_benign
X	37798956	C	T	C37798956T	CYBB	NM_000397.3(CYBB):c.676C>T:p.Arg226Ter	coding	Pathogenic
X	37798966	G	A	G37798966A	CYBB	NM_000397.3(CYBB):c.686G>A:p.Arg229His	coding	Benign
X	37798972	A	C	A37798972C	CYBB	NM_000397.3(CYBB):c.692A>C:p.Gln231Pro	coding	Pathogenic
X	37799011	G	C	G37799011C	CYBB	NM_000397.3(CYBB):c.731G>C:p.Cys244Ser	coding	Pathogenic
X	37799061	C	T	C37799061T	CYBB	NM_000397.3(CYBB):c.781C>T:p.Gln261Ter	coding	Pathogenic
X	37801291	T	A	T37801291A	CYBB	NM_000397.4(CYBB):c.840T>A:p.Tyr280Ter	coding	Pathogenic
X	37801306	G	A	G37801306A	CYBB	NM_000397.4(CYBB):c.855G>A:p.Leu285=	coding	Benign
X	37801319	C	T	C37801319T	CYBB	NM_000397.3(CYBB):c.868C>T:p.Arg290Ter	coding	Pathogenic
X	37803875	A	C	A37803875C	CYBB	NM_000397.3(CYBB):c.898-2A>C	noncoding	Pathogenic
X	37803886	C	A	C37803886A	CYBB	NM_000397.3(CYBB):c.907C>A:p.His303Asn	coding	Pathogenic
X	37803886	C	T	C37803886T	CYBB	NM_000397.3(CYBB):c.907C>T:p.His303Tyr	coding	Pathogenic
X	37803890	C	G	C37803890G	CYBB	NM_000397.3(CYBB):c.911C>G:p.Pro304Arg	coding	Pathogenic
X	37803904	G	A	G37803904A	CYBB	NM_000397.3(CYBB):c.925G>A:p.Glu309Lys	coding	Pathogenic
X	37803966	C	A	C37803966A	CYBB	NM_000397.4(CYBB):c.987C>A:p.Cys329Ter	coding	Pathogenic
X	37803981	G	A	G37803981A	CYBB	NM_000397.3(CYBB):c.1002G>A:p.Lys334=	coding	Benign
X	37803985	G	T	G37803985T	CYBB	NM_000397.3(CYBB):c.1006G>T:p.Glu336Ter	coding	Pathogenic
X	37803989	G	A	G37803989A	CYBB	NM_000397.4(CYBB):c.1010G>A:p.Trp337Ter	coding	Pathogenic
X	37803990	G	A	G37803990A	CYBB	NM_000397.3(CYBB):c.1011G>A:p.Trp337Ter	coding	Pathogenic
X	37803995	C	A	C37803995A	CYBB	NM_000397.3(CYBB):c.1016C>A:p.Pro339His	coding	Pathogenic
X	37804011	C	G	C37804011G	CYBB	NM_000397.4(CYBB):c.1032C>G:p.Ser344=	coding	Benign
X	37804069	G	C	G37804069C	CYBB	NM_000397.3(CYBB):c.1090G>C:p.Gly364Arg	coding	Benign/Likely_benign
X	37805012	G	A	G37805012A	CYBB	NM_000397.4(CYBB):c.1158G>A:p.Ala386=	coding	Benign
X	37805013	G	A	G37805013A	CYBB	NM_000397.3(CYBB):c.1159G>A:p.Val387Ile	coding	Benign
X	37805020	G	C	G37805020C	CYBB	NM_000397.3(CYBB):c.1166G>C:p.Gly389Ala	coding	Pathogenic
X	37805057	T	C	T37805057C	CYBB	NM_000397.4(CYBB):c.1203T>C:p.Tyr401=	coding	Benign
X	37805077	G	A	G37805077A	CYBB	NM_000397.3(CYBB):c.1223G>A:p.Gly408Glu	coding	Pathogenic
X	37805098	C	A	C37805098A	CYBB	NM_000397.3(CYBB):c.1244C>A:p.Pro415His	coding	Pathogenic
X	37805126	G	A	G37805126A	CYBB	NM_000397.3(CYBB):c.1272G>A:p.Trp424Ter	coding	Pathogenic
X	37805129	C	G	C37805129G	CYBB	NM_000397.4(CYBB):c.1275C>G:p.Tyr425Ter	coding	Pathogenic
X	37805154	C	T	C37805154T	CYBB	NM_000397.4(CYBB):c.1300C>T:p.Leu434=	coding	Benign
X	37805187	C	T	C37805187T	CYBB	NM_000397.3(CYBB):c.1314+19C>T	noncoding	Benign
X	37806392	C	G	C37806392G	CYBB	NM_000397.3(CYBB):c.1320C>G:p.Tyr440Ter	coding	Pathogenic
X	37806398	C	A	C37806398A	CYBB	NM_000397.4(CYBB):c.1326C>A:p.Tyr442Ter	coding	Pathogenic
X	37806486	G	A	G37806486A	CYBB	NM_000397.4(CYBB):c.1414G>A:p.Gly472Ser	coding	Benign
X	37806521	G	A	G37806521A	CYBB	NM_000397.3(CYBB):c.1449G>A:p.Trp483Ter	coding	Pathogenic
X	37809603	G	C	G37809603C	CYBB	NM_000397.3(CYBB):c.1498G>C:p.Asp500His	coding	Pathogenic
X	37809604	A	G	A37809604G	CYBB	NM_000397.3(CYBB):c.1499A>G:p.Asp500Gly	coding	Pathogenic
X	37809656	T	A	T37809656A	CYBB	NM_000397.3(CYBB):c.1551T>A:p.Asp517Glu	coding	Benign/Likely_benign
X	37810813	T	C	T37810813C	CYBB	NM_000397.3(CYBB):c.1609T>C:p.Cys537Arg	coding	Pathogenic
X	37810893	C	T	C37810893T	CYBB	NM_000397.4(CYBB):c.1689C>T:p.Phe563=	coding	Benign
X	37810906	G	A	G37810906A	CYBB	NM_000397.3(CYBB):c.1702G>A:p.Glu568Lys	coding	Pathogenic
X	37841795	G	A	G37841795A	DYNLT3	NM_006520.3(DYNLT3):c.183C>T:p.Ala61=	coding	Benign
X	38154473	C	T	C38154473T	SRPX	NM_006307.5(SRPX):c.1200G>A:p.Ala400=	coding	Benign
X	38161035	G	A	G38161035A	SRPX	NM_006307.5(SRPX):c.673C>T:p.Pro225Ser	coding	Benign
X	38178347	A	G	A38178347G	SRPX	NM_006307.5(SRPX):c.98-3T>C	noncoding	Benign
X	38269709	C	T	C38269709T	RPGR	NM_000328.3(RPGR):c.2365G>A:p.Asp789Asn	coding	Benign
X	38269750	A	G	A38269750G	RPGR	NM_000328.3(RPGR):c.2324T>C:p.Ile775Thr	coding	Benign
X	38269751	T	C	T38269751C	RPGR	NM_000328.3(RPGR):c.2323A>G:p.Ile775Val	coding	Benign
X	38269772	G	T	G38269772T	RPGR	NM_000328.3(RPGR):c.2302C>A:p.Pro768Thr	coding	Benign
X	38269840	A	G	A38269840G	RPGR	NM_000328.3(RPGR):c.2242-8T>C	noncoding	Benign
X	38273375	A	G	A38273375G	RPGR	NM_000328.3(RPGR):c.2241+11T>C	noncoding	Benign
X	38275043	G	A	G38275043A	RPGR	NM_000328.3(RPGR):c.2149+46C>T	noncoding	Benign
X	38275092	T	C	T38275092C	RPGR	NM_000328.3(RPGR):c.2146A>G:p.Lys716Glu	coding	Benign
X	38276743	T	C	T38276743C	RPGR	NM_000328.3(RPGR):c.1935A>G:p.Leu645=	coding	Benign
X	38285569	C	T	C38285569T	RPGR	NM_000328.3(RPGR):c.1905+1525G>A	coding	Benign
X	38285603	G	A	G38285603A	RPGR	NM_000328.3(RPGR):c.1905+1491C>T	coding	Benign
X	38285626	G	A	G38285626A	RPGR	NM_000328.3(RPGR):c.1905+1468C>T	coding	Pathogenic/Likely_pathogenic
X	38285735	C	T	C38285735T	RPGR	NM_000328.3(RPGR):c.1905+1359G>A	coding	Benign
X	38285780	G	A	G38285780A	RPGR	NM_000328.3(RPGR):c.1905+1314C>T	coding	Benign
X	38285950	C	A	C38285950A	RPGR	NM_000328.3(RPGR):c.1905+1144G>T	coding	Pathogenic
X	38286052	C	A	C38286052A	RPGR	NM_000328.3(RPGR):c.1905+1042G>T	coding	Pathogenic
X	38286070	C	A	C38286070A	RPGR	NM_000328.3(RPGR):c.1905+1024G>T	coding	Pathogenic
X	38286082	C	A	C38286082A	RPGR	NM_000328.3(RPGR):c.1905+1012G>T	coding	Pathogenic
X	38286151	C	A	C38286151A	RPGR	NM_000328.3(RPGR):c.1905+943G>T	coding	Pathogenic
X	38286304	C	A	C38286304A	RPGR	NM_000328.3(RPGR):c.1905+790G>T	coding	Pathogenic
X	38286310	C	A	C38286310A	RPGR	NM_000328.3(RPGR):c.1905+784G>T	coding	Pathogenic
X	38286334	C	A	C38286334A	RPGR	NM_000328.3(RPGR):c.1905+760G>T	coding	Pathogenic
X	38286349	C	A	C38286349A	RPGR	NM_000328.3(RPGR):c.1905+745G>T	coding	Pathogenic
X	38286352	C	A	C38286352A	RPGR	NM_000328.3(RPGR):c.1905+742G>T	coding	Pathogenic/Likely_pathogenic
X	38286394	C	A	C38286394A	RPGR	NM_000328.3(RPGR):c.1905+700G>T	coding	Pathogenic/Likely_pathogenic
X	38286451	C	A	C38286451A	RPGR	NM_000328.3(RPGR):c.1905+643G>T	coding	Pathogenic
X	38286490	C	A	C38286490A	RPGR	NM_000328.3(RPGR):c.1905+604G>T	coding	Pathogenic
X	38286538	C	A	C38286538A	RPGR	NM_000328.3(RPGR):c.1905+556G>T	coding	Pathogenic
X	38286583	C	A	C38286583A	RPGR	NM_000328.3(RPGR):c.1905+511G>T	coding	Pathogenic/Likely_pathogenic
X	38286589	T	A	T38286589A	RPGR	NM_000328.3(RPGR):c.1905+505A>T	coding	Pathogenic/Likely_pathogenic
X	38286622	G	A	G38286622A	RPGR	NM_000328.3(RPGR):c.1905+472C>T	coding	Pathogenic
X	38286658	C	T	C38286658T	RPGR	NM_000328.3(RPGR):c.1905+436G>A	coding	Benign
X	38286727	C	A	C38286727A	RPGR	NM_000328.3(RPGR):c.1905+367G>T	coding	Pathogenic
X	38286739	C	A	C38286739A	RPGR	NM_000328.3(RPGR):c.1905+355G>T	coding	Pathogenic
X	38286776	C	T	C38286776T	RPGR	NM_000328.3(RPGR):c.1905+318G>A	coding	Benign
X	38286814	C	A	C38286814A	RPGR	NM_000328.3(RPGR):c.1905+280G>T	coding	Pathogenic
X	38286826	G	A	G38286826A	RPGR	NM_000328.3(RPGR):c.1905+268C>T	coding	Pathogenic
X	38286876	T	C	T38286876C	RPGR	NM_000328.3(RPGR):c.1905+218A>G	coding	Pathogenic
X	38286976	C	A	C38286976A	RPGR	NM_000328.3(RPGR):c.1905+118G>T	coding	Pathogenic
X	38286993	C	T	C38286993T	RPGR	NM_000328.3(RPGR):c.1905+101G>A	coding	Pathogenic
X	38287071	G	C	G38287071C	RPGR	NM_000328.3(RPGR):c.1905+23C>G	coding	Pathogenic
X	38287255	G	C	G38287255C	RPGR	NM_000328.3(RPGR):c.1754-10C>G	noncoding	Benign
X	38287893	G	A	G38287893A	RPGR	NM_000328.3(RPGR):c.1721C>T:p.Thr574Met	coding	Benign
X	38287904	C	T	C38287904T	RPGR	NM_000328.3(RPGR):c.1710G>A:p.Thr570=	coding	Benign/Likely_benign
X	38287917	C	T	C38287917T	RPGR	NM_000328.3(RPGR):c.1697G>A:p.Gly566Glu	coding	Benign
X	38288006	T	A	T38288006A	RPGR	NM_000328.3(RPGR):c.1608A>T:p.Thr536=	coding	Benign
X	38288016	G	A	G38288016A	RPGR	NM_000328.3(RPGR):c.1598C>T:p.Thr533Met	coding	Benign
X	38288043	T	C	T38288043C	RPGR	NM_000328.3(RPGR):c.1573-2A>G	noncoding	Pathogenic
X	38290948	T	C	T38290948C	RPGR	NM_000328.3(RPGR):c.1572+11A>G	noncoding	Benign
X	38290956	T	A	T38290956A	RPGR	NM_000328.3(RPGR):c.1572+3A>T	noncoding	Pathogenic
X	38290958	C	T	C38290958T	RPGR	NM_000328.3(RPGR):c.1572+1G>A	noncoding	Pathogenic
X	38297299	G	T	G38297299T	RPGR	NM_000328.3(RPGR):c.1399C>A:p.Gln467Lys	coding	Benign
X	38297311	G	A	G38297311A	RPGR	NM_000328.3(RPGR):c.1387C>T:p.Gln463Ter	coding	Pathogenic/Likely_pathogenic
X	38297331	T	C	T38297331C	RPGR	NM_000328.3(RPGR):c.1367A>G:p.Gln456Arg	coding	Benign
X	38297332	G	A	G38297332A	RPGR	NM_000328.3(RPGR):c.1366C>T:p.Gln456Ter	coding	Pathogenic
X	38297353	G	A	G38297353A	RPGR	NM_000328.3(RPGR):c.1345C>T:p.Arg449Ter	coding	Pathogenic
X	38297364	G	C	G38297364C	RPGR	NM_000328.3(RPGR):c.1334C>G:p.Ser445Ter	coding	Pathogenic
X	38297402	T	A	T38297402A	RPGR	NM_000328.3(RPGR):c.1296A>T:p.Glu432Asp	coding	Benign
X	38297407	T	C	T38297407C	RPGR	NM_000328.3(RPGR):c.1291A>G:p.Ile431Val	coding	Benign
X	38297424	C	T	C38297424T	RPGR	NM_000328.3(RPGR):c.1274G>A:p.Arg425Lys	coding	Benign
X	38297454	T	G	T38297454G	RPGR	NM_000328.3(RPGR):c.1246-2A>C	noncoding	Pathogenic
X	38298940	T	C	T38298940C	RPGR	NM_000328.3(RPGR):c.1245+16A>G	noncoding	Benign
X	38298961	C	G	C38298961G	RPGR	NM_000328.3(RPGR):c.1240G>C:p.Glu414Gln	coding	Benign
X	38298967	G	A	G38298967A	RPGR	NM_000328.3(RPGR):c.1234C>T:p.Arg412Ter	coding	Pathogenic
X	38299025	C	G	C38299025G	RPGR	NM_000328.3(RPGR):c.1176G>C:p.Pro392=	coding	Benign
X	38299037	C	T	C38299037T	RPGR	NM_000328.3(RPGR):c.1164G>A:p.Ala388=	coding	Benign
X	38299103	A	G	A38299103G	RPGR	NM_000328.3(RPGR):c.1098T>C:p.Ala366=	coding	Benign
X	38300884	C	T	C38300884T	RPGR	NM_000328.3(RPGR):c.1059+363G>A	noncoding	Pathogenic
X	38301222	A	G	A38301222G	RPGR	NM_000328.3(RPGR):c.1059+25T>C	noncoding	Benign
X	38301241	C	T	C38301241T	RPGR	NM_000328.3(RPGR):c.1059+6G>A	noncoding	Benign/Likely_benign
X	38301273	T	C	T38301273C	RPGR	NM_000328.3(RPGR):c.1033A>G:p.Asn345Asp	coding	Benign
X	38301326	A	C	A38301326C	RPGR	NM_000328.3(RPGR):c.980T>G:p.Leu327Ter	coding	Pathogenic
X	38301372	C	A	C38301372A	RPGR	NM_000328.3(RPGR):c.935-1G>T	coding	Pathogenic
X	38301373	T	C	T38301373C	RPGR	NM_000328.3(RPGR):c.935-2A>G	noncoding	Pathogenic
X	38304634	C	A	C38304634A	RPGR	NM_000328.3(RPGR):c.934+1G>T	noncoding	Pathogenic
X	38304634	C	T	C38304634T	RPGR	NM_000328.3(RPGR):c.934+1G>A	noncoding	Pathogenic
X	38304662	C	A	C38304662A	RPGR	NM_000328.3(RPGR):c.907G>T:p.Gly303Ter	coding	Pathogenic
X	38304664	C	G	C38304664G	RPGR	NM_000328.3(RPGR):c.905G>C:p.Cys302Ser	coding	Benign/Likely_benign
X	38304704	T	C	T38304704C	RPGR	NM_000328.3(RPGR):c.865A>G:p.Ile289Val	coding	Benign/Likely_benign
X	38304746	C	T	C38304746T	RPGR	NM_000328.3(RPGR):c.823G>A:p.Gly275Ser	coding	Pathogenic/Likely_pathogenic
X	38304784	G	C	G38304784C	RPGR	NM_000328.3(RPGR):c.785C>G:p.Ala262Gly	coding	Benign
X	38304795	A	C	A38304795C	RPGR	NM_000328.3(RPGR):c.779-5T>G	noncoding	Pathogenic
X	38310602	A	T	A38310602T	RPGR	NM_000328.3(RPGR):c.778+13T>A	noncoding	Benign
X	38310644	C	T	C38310644T	RPGR	NM_000328.3(RPGR):c.749G>A:p.Cys250Tyr	coding	Pathogenic
X	38310690	G	A	G38310690A	RPGR	NM_000328.3(RPGR):c.703C>T:p.Pro235Ser	coding	Pathogenic
X	38310714	G	A	G38310714A	RPGR	NM_000328.3(RPGR):c.679C>T:p.Gln227Ter	coding	Pathogenic
X	38317310	T	C	T38317310C	RPGR	NM_000328.3(RPGR):c.619+6A>G	noncoding	Benign
X	38317333	T	A	T38317333A	RPGR	NM_000328.3(RPGR):c.602A>T:p.His201Leu	coding	Pathogenic
X	38317343	C	T	C38317343T	RPGR	NM_000328.3(RPGR):c.592G>A:p.Gly198Arg	coding	Pathogenic/Likely_pathogenic
X	38317354	C	T	C38317354T	RPGR	NM_000328.3(RPGR):c.581G>A:p.Trp194Ter	coding	Pathogenic
X	38317383	C	A	C38317383A	RPGR	NM_000328.3(RPGR):c.552G>T:p.Gln184His	coding	Benign
X	38317418	C	G	C38317418G	RPGR	NM_000328.3(RPGR):c.517G>C:p.Gly173Arg	coding	Pathogenic
X	38317430	C	A	C38317430A	RPGR	NM_000328.3(RPGR):c.505G>T:p.Glu169Ter	coding	Pathogenic/Likely_pathogenic
X	38317443	C	T	C38317443T	RPGR	NM_000328.3(RPGR):c.492G>A:p.Trp164Ter	coding	Pathogenic
X	38318828	C	A	C38318828A	RPGR	NM_000328.3(RPGR):c.469+1G>T	noncoding	Pathogenic
X	38318909	A	C	A38318909C	RPGR	NM_000328.3(RPGR):c.389T>G:p.Phe130Cys	coding	Pathogenic
X	38318909	A	G	A38318909G	RPGR	NM_000328.3(RPGR):c.389T>C:p.Phe130Ser	coding	Pathogenic
X	38318919	T	C	T38318919C	RPGR	NM_000328.3(RPGR):c.379A>G:p.Arg127Gly	coding	Pathogenic/Likely_pathogenic
X	38321027	C	A	C38321027A	RPGR	NM_000328.3(RPGR):c.310G>T:p.Glu104Ter	coding	Pathogenic
X	38321041	G	T	G38321041T	RPGR	NM_000328.3(RPGR):c.296C>A:p.Thr99Asn	coding	Pathogenic
X	38321078	C	A	C38321078A	RPGR	NM_000328.3(RPGR):c.259G>T:p.Glu87Ter	coding	Pathogenic
X	38321091	T	C	T38321091C	RPGR	NM_000328.3(RPGR):c.248-2A>G	noncoding	Pathogenic
X	38322877	T	C	T38322877C	RPGR	NM_000328.3(RPGR):c.223A>G:p.Ile75Val	coding	Benign
X	38322878	G	A	G38322878A	RPGR	NM_000328.3(RPGR):c.222C>T:p.Ala74=	coding	Benign
X	38322921	C	A	C38322921A	RPGR	NM_000328.3(RPGR):c.179G>T:p.Gly60Val	coding	Pathogenic
X	38322947	T	C	T38322947C	RPGR	NM_000328.3(RPGR):c.155-2A>G	noncoding	Pathogenic
X	38323398	C	T	C38323398T	RPGR	NM_000328.3(RPGR):c.154+1G>A	noncoding	Pathogenic
X	38323399	C	T	C38323399T	RPGR	NM_000328.3(RPGR):c.154G>A:p.Gly52Arg	coding	Pathogenic
X	38323400	G	A	G38323400A	RPGR	NM_000328.3(RPGR):c.153C>T:p.Thr51=	coding	Benign
X	38323412	A	C	A38323412C	RPGR	NM_000328.3(RPGR):c.141T>G:p.Ser47=	coding	Benign/Likely_benign
X	38323420	C	A	C38323420A	RPGR	NM_000328.3(RPGR):c.133G>T:p.Glu45Ter	coding	Pathogenic/Likely_pathogenic
X	38323525	C	A	C38323525A	RPGR	NM_000328.3(RPGR):c.29-1G>T	coding	Pathogenic
X	38323539	C	T	C38323539T	RPGR	NM_000328.3(RPGR):c.29-15G>A	noncoding	Benign
X	38327339	C	G	C38327339G	RPGR	NM_000328.3(RPGR):c.28+1G>C	noncoding	Pathogenic
X	38327339	C	T	C38327339T	RPGR	NM_000328.3(RPGR):c.28+1G>A	noncoding	Pathogenic
X	38352036	C	T	C38352036T	OTC	NC_000023.11:g.38352036C>T	noncoding	Benign
X	38352051	G	A	G38352051A	OTC	NC_000023.11:g.38352051G>A	noncoding	Benign
X	38352256	A	G	A38352256G	OTC	NM_000531.5(OTC):c.-441A>G	noncoding	Benign
X	38352331	A	G	A38352331G	OTC	NM_000531.5(OTC):c.-366A>G	noncoding	Benign/Likely_benign
X	38352332	G	A	G38352332A	OTC	NM_000531.5(OTC):c.-365G>A	noncoding	Benign
X	38352338	G	A	G38352338A	OTC	NM_000531.5(OTC):c.-359G>A	noncoding	Benign
X	38352649	G	T	G38352649T	OTC	NM_000531.6(OTC):c.-48G>T	noncoding	Benign
X	38352697	A	G	A38352697G	OTC	NM_000531.6(OTC):c.1A>G:p.Met1Val	coding	Pathogenic
X	38352697	A	T	A38352697T	OTC	NM_000531.6(OTC):c.1A>T:p.Met1Leu	coding	Pathogenic
X	38352698	T	C	T38352698C	OTC	NM_000531.6(OTC):c.2T>C:p.Met1Thr	coding	Pathogenic
X	38352699	G	A	G38352699A	OTC	NM_000531.6(OTC):c.3G>A:p.Met1Ile	coding	Pathogenic
X	38352763	C	T	C38352763T	OTC	NM_000531.6(OTC):c.67C>T:p.Arg23Ter	coding	Pathogenic
X	38352773	G	A	G38352773A	OTC	NM_000531.6(OTC):c.77G>A:p.Arg26Gln	coding	Pathogenic
X	38352773	G	C	G38352773C	OTC	NM_000531.6(OTC):c.77G>C:p.Arg26Pro	coding	Pathogenic
X	38352774	G	A	G38352774A	OTC	NM_000531.6(OTC):c.77+1G>A	coding	Pathogenic
X	38352774	G	T	G38352774T	OTC	NM_000531.6(OTC):c.77+1G>T	coding	Pathogenic
X	38352777	A	C	A38352777C	OTC	NM_000531.6(OTC):c.77+4A>C	noncoding	Pathogenic
X	38352778	G	A	G38352778A	OTC	NM_000531.6(OTC):c.77+5G>A	noncoding	Pathogenic
X	38352778	G	C	G38352778C	OTC	NM_000531.6(OTC):c.77+5G>C	noncoding	Pathogenic
X	38367058	G	C	G38367058C	OTC	NM_000531.6(OTC):c.78-233G>C	noncoding	Benign
X	38367288	C	G	C38367288G	OTC	NM_000531.6(OTC):c.78-3C>G	noncoding	Pathogenic
X	38367290	G	C	G38367290C	OTC	NM_000531.6(OTC):c.78-1G>C	noncoding	Pathogenic
X	38367307	C	T	C38367307T	OTC	NM_000531.6(OTC):c.94C>T:p.Gln32Ter	coding	Pathogenic
X	38367319	C	T	C38367319T	OTC	NM_000531.6(OTC):c.106C>T:p.Gln36Ter	coding	Pathogenic
X	38367328	G	T	G38367328T	OTC	NM_000531.6(OTC):c.115G>T:p.Gly39Cys	coding	Pathogenic
X	38367329	G	C	G38367329C	OTC	NM_000531.6(OTC):c.116G>C:p.Gly39Ala	coding	Pathogenic
X	38367331	C	T	C38367331T	OTC	NM_000531.6(OTC):c.118C>T:p.Arg40Cys	coding	Pathogenic/Likely_pathogenic
X	38367332	G	A	G38367332A	OTC	NM_000531.6(OTC):c.119G>A:p.Arg40His	coding	Pathogenic
X	38367340	C	T	C38367340T	OTC	NM_000531.6(OTC):c.127C>T:p.Leu43Phe	coding	Pathogenic
X	38367341	T	C	T38367341C	OTC	NM_000531.6(OTC):c.128T>C:p.Leu43Pro	coding	Pathogenic
X	38367344	C	T	C38367344T	OTC	NM_000531.6(OTC):c.131C>T:p.Thr44Ile	coding	Pathogenic
X	38367346	C	G	C38367346G	OTC	NM_000531.6(OTC):c.133C>G:p.Leu45Val	coding	Pathogenic
X	38367347	T	C	T38367347C	OTC	NM_000531.6(OTC):c.134T>C:p.Leu45Pro	coding	Pathogenic
X	38367350	A	G	A38367350G	OTC	NM_000531.6(OTC):c.137A>G:p.Lys46Arg	coding	Benign
X	38367353	A	T	A38367353T	OTC	NM_000531.6(OTC):c.140A>T:p.Asn47Ile	coding	Pathogenic
X	38367356	T	C	T38367356C	OTC	NM_000531.6(OTC):c.143T>C:p.Phe48Ser	coding	Pathogenic
X	38367358	A	C	A38367358C	OTC	NM_000531.6(OTC):c.145A>C:p.Thr49Pro	coding	Pathogenic
X	38367361	G	A	G38367361A	OTC	NM_000531.6(OTC):c.148G>A:p.Gly50Arg	coding	Pathogenic
X	38367361	G	T	G38367361T	OTC	NM_000531.6(OTC):c.148G>T:p.Gly50Ter	coding	Pathogenic
X	38367367	G	A	G38367367A	OTC	NM_000531.6(OTC):c.154G>A:p.Glu52Lys	coding	Pathogenic
X	38367367	G	T	G38367367T	OTC	NM_000531.6(OTC):c.154G>T:p.Glu52Ter	coding	Pathogenic
X	38367368	A	G	A38367368G	OTC	NM_000531.6(OTC):c.155A>G:p.Glu52Gly	coding	Pathogenic
X	38367369	A	T	A38367369T	OTC	NM_000531.6(OTC):c.156A>T:p.Glu52Asp	coding	Pathogenic
X	38367371	T	G	T38367371G	OTC	NM_000531.6(OTC):c.158T>G:p.Ile53Ser	coding	Pathogenic
X	38367376	T	G	T38367376G	OTC	NM_000531.6(OTC):c.163T>G:p.Tyr55Asp	coding	Pathogenic
X	38367383	T	A	T38367383A	OTC	NM_000531.6(OTC):c.170T>A:p.Leu57Gln	coding	Pathogenic
X	38367387	G	A	G38367387A	OTC	NM_000531.6(OTC):c.174G>A:p.Trp58Ter	coding	Pathogenic
X	38367392	C	T	C38367392T	OTC	NM_000531.6(OTC):c.179C>T:p.Ser60Leu	coding	Pathogenic
X	38367401	T	C	T38367401C	OTC	NM_000531.6(OTC):c.188T>C:p.Leu63Pro	coding	Pathogenic
X	38367413	T	G	T38367413G	OTC	NM_000531.6(OTC):c.200T>G:p.Ile67Arg	coding	Pathogenic
X	38367418	C	T	C38367418T	OTC	NM_000531.6(OTC):c.205C>T:p.Gln69Ter	coding	Pathogenic
X	38367427	G	A	G38367427A	OTC	NM_000531.6(OTC):c.214G>A:p.Glu72Lys	coding	Pathogenic
X	38367430	G	A	G38367430A	OTC	NM_000531.6(OTC):c.216+1G>A	coding	Pathogenic
X	38367430	G	T	G38367430T	OTC	NM_000531.6(OTC):c.216+1G>T	coding	Pathogenic
X	38369794	A	G	A38369794G	OTC	NM_000531.6(OTC):c.217-2A>G	noncoding	Pathogenic
X	38369795	G	A	G38369795A	OTC	NM_000531.6(OTC):c.217-1G>A	noncoding	Pathogenic
X	38369806	T	C	T38369806C	OTC	NM_000531.6(OTC):c.227T>C:p.Leu76Ser	coding	Pathogenic
X	38369810	G	T	G38369810T	OTC	NM_000531.6(OTC):c.231G>T:p.Leu77Phe	coding	Pathogenic
X	38369811	C	T	C38369811T	OTC	NM_000531.6(OTC):c.232C>T:p.Gln78Ter	coding	Pathogenic
X	38369815	G	A	G38369815A	OTC	NM_000531.6(OTC):c.236G>A:p.Gly79Glu	coding	Pathogenic
X	38369817	A	G	A38369817G	OTC	NM_000531.6(OTC):c.238A>G:p.Lys80Glu	coding	Pathogenic
X	38369819	G	T	G38369819T	OTC	NM_000531.6(OTC):c.240G>T:p.Lys80Asn	coding	Pathogenic
X	38369824	T	G	T38369824G	OTC	NM_000531.6(OTC):c.245T>G:p.Leu82Ter	coding	Pathogenic
X	38369826	G	C	G38369826C	OTC	NM_000531.6(OTC):c.247G>C:p.Gly83Arg	coding	Pathogenic
X	38369827	G	A	G38369827A	OTC	NM_000531.6(OTC):c.248G>A:p.Gly83Asp	coding	Pathogenic
X	38369838	G	A	G38369838A	OTC	NM_000531.6(OTC):c.259G>A:p.Glu87Lys	coding	Pathogenic
X	38369843	A	T	A38369843T	OTC	NM_000531.6(OTC):c.264A>T:p.Lys88Asn	coding	Pathogenic
X	38369847	A	G	A38369847G	OTC	NM_000531.6(OTC):c.268A>G:p.Ser90Gly	coding	Pathogenic
X	38369848	G	A	G38369848A	OTC	NM_000531.6(OTC):c.269G>A:p.Ser90Asn	coding	Pathogenic
X	38369849	T	G	T38369849G	OTC	NM_000531.6(OTC):c.270T>G:p.Ser90Arg	coding	Pathogenic
X	38369853	C	G	C38369853G	OTC	NM_000531.6(OTC):c.274C>G:p.Arg92Gly	coding	Pathogenic
X	38369853	C	T	C38369853T	OTC	NM_000531.6(OTC):c.274C>T:p.Arg92Ter	coding	Pathogenic
X	38369854	G	A	G38369854A	OTC	NM_000531.6(OTC):c.275G>A:p.Arg92Gln	coding	Pathogenic
X	38369854	G	C	G38369854C	OTC	NM_000531.6(OTC):c.275G>C:p.Arg92Pro	coding	Pathogenic
X	38369854	G	T	G38369854T	OTC	NM_000531.6(OTC):c.275G>T:p.Arg92Leu	coding	Pathogenic
X	38369856	A	G	A38369856G	OTC	NM_000531.6(OTC):c.277A>G:p.Thr93Ala	coding	Pathogenic
X	38369860	G	C	G38369860C	OTC	NM_000531.6(OTC):c.281G>C:p.Arg94Thr	coding	Pathogenic
X	38369863	T	C	T38369863C	OTC	NM_000531.6(OTC):c.284T>C:p.Leu95Ser	coding	Pathogenic
X	38369877	G	T	G38369877T	OTC	NM_000531.6(OTC):c.298G>T:p.Gly100Cys	coding	Pathogenic
X	38369878	G	A	G38369878A	OTC	NM_000531.6(OTC):c.298+1G>A	coding	Pathogenic
X	38369878	G	T	G38369878T	OTC	NM_000531.6(OTC):c.298+1G>T	coding	Pathogenic
X	38369879	T	G	T38369879G	OTC	NM_000531.6(OTC):c.298+2T>G	noncoding	Pathogenic
X	38369882	G	C	G38369882C	OTC	NM_000531.6(OTC):c.298+5G>C	noncoding	Benign/Likely_benign
X	38381324	C	T	C38381324T	OTC	NM_000531.6(OTC):c.299-18C>T	noncoding	Benign
X	38381334	T	A	T38381334A	OTC	NM_000531.6(OTC):c.299-8T>A	noncoding	Benign
X	38381342	G	A	G38381342A	OTC	NM_000531.6(OTC):c.299G>A:p.Gly100Asp	coding	Pathogenic
X	38381348	C	A	C38381348A	OTC	NM_000531.6(OTC):c.305C>A:p.Ala102Glu	coding	Pathogenic
X	38381357	G	T	G38381357T	OTC	NM_000531.6(OTC):c.314G>T:p.Gly105Val	coding	Pathogenic
X	38381359	G	A	G38381359A	OTC	NM_000531.6(OTC):c.316G>A:p.Gly106Arg	coding	Pathogenic
X	38381360	G	A	G38381360A	OTC	NM_000531.6(OTC):c.317G>A:p.Gly106Glu	coding	Pathogenic
X	38381360	G	T	G38381360T	OTC	NM_000531.6(OTC):c.317G>T:p.Gly106Val	coding	Pathogenic
X	38381370	T	A	T38381370A	OTC	NM_000531.6(OTC):c.327T>A:p.Cys109Ter	coding	Pathogenic
X	38381375	T	C	T38381375C	OTC	NM_000531.6(OTC):c.332T>C:p.Leu111Pro	coding	Pathogenic
X	38381393	A	G	A38381393G	OTC	NM_000531.6(OTC):c.350A>G:p.His117Arg	coding	Pathogenic
X	38381393	A	T	A38381393T	OTC	NM_000531.6(OTC):c.350A>T:p.His117Leu	coding	Pathogenic
X	38381420	A	G	A38381420G	OTC	NM_000531.6(OTC):c.377A>G:p.Asp126Gly	coding	Pathogenic
X	38381429	G	A	G38381429A	OTC	NM_000531.6(OTC):c.386G>A:p.Arg129His	coding	Pathogenic
X	38381429	G	C	G38381429C	OTC	NM_000531.6(OTC):c.386G>C:p.Arg129Pro	coding	Pathogenic
X	38381429	G	T	G38381429T	OTC	NM_000531.6(OTC):c.386G>T:p.Arg129Leu	coding	Pathogenic
X	38381430	G	A	G38381430A	OTC	NM_000531.6(OTC):c.386+1G>A	coding	Pathogenic
X	38381430	G	T	G38381430T	OTC	NM_000531.6(OTC):c.386+1G>T	coding	Pathogenic
X	38381431	T	C	T38381431C	OTC	NM_000531.6(OTC):c.386+2T>C	noncoding	Pathogenic
X	38401273	A	C	A38401273C	OTC	NM_000531.6(OTC):c.387-2A>C	noncoding	Pathogenic
X	38401273	A	G	A38401273G	OTC	NM_000531.6(OTC):c.387-2A>G	noncoding	Pathogenic
X	38401273	A	T	A38401273T	OTC	NM_000531.6(OTC):c.387-2A>T	noncoding	Pathogenic
X	38401274	G	A	G38401274A	OTC	NM_000531.6(OTC):c.387-1G>A	noncoding	Pathogenic
X	38401280	T	C	T38401280C	OTC	NM_000531.6(OTC):c.392T>C:p.Leu131Ser	coding	Pathogenic
X	38401282	T	C	T38401282C	OTC	NM_000531.6(OTC):c.394T>C:p.Ser132Pro	coding	Pathogenic
X	38401283	C	T	C38401283T	OTC	NM_000531.6(OTC):c.395C>T:p.Ser132Phe	coding	Pathogenic
X	38401292	C	A	C38401292A	OTC	NM_000531.6(OTC):c.404C>A:p.Ala135Glu	coding	Pathogenic
X	38401295	A	T	A38401295T	OTC	NM_000531.6(OTC):c.407A>T:p.Asp136Val	coding	Pathogenic
X	38401297	G	A	G38401297A	OTC	NM_000531.6(OTC):c.409G>A:p.Ala137Thr	coding	Pathogenic
X	38401304	T	C	T38401304C	OTC	NM_000531.6(OTC):c.416T>C:p.Leu139Ser	coding	Pathogenic
X	38401309	C	G	C38401309G	OTC	NM_000531.6(OTC):c.421C>G:p.Arg141Gly	coding	Pathogenic
X	38401309	C	T	C38401309T	OTC	NM_000531.6(OTC):c.421C>T:p.Arg141Ter	coding	Pathogenic
X	38401310	G	A	G38401310A	OTC	NM_000531.6(OTC):c.422G>A:p.Arg141Gln	coding	Pathogenic
X	38401313	T	A	T38401313A	OTC	NM_000531.6(OTC):c.425T>A:p.Val142Glu	coding	Pathogenic
X	38401317	T	C	T38401317C	OTC	NM_000531.6(OTC):c.429T>C:p.Tyr143=	coding	Benign
X	38401318	A	T	A38401318T	OTC	NM_000531.6(OTC):c.430A>T:p.Lys144Ter	coding	Pathogenic
X	38401325	C	G	C38401325G	OTC	NM_000531.6(OTC):c.437C>G:p.Ser146Ter	coding	Pathogenic
X	38401331	T	C	T38401331C	OTC	NM_000531.6(OTC):c.443T>C:p.Leu148Ser	coding	Pathogenic
X	38401331	T	G	T38401331G	OTC	NM_000531.6(OTC):c.443T>G:p.Leu148Trp	coding	Pathogenic
X	38401332	G	C	G38401332C	OTC	NM_000531.6(OTC):c.444G>C:p.Leu148Phe	coding	Pathogenic
X	38401332	G	T	G38401332T	OTC	NM_000531.6(OTC):c.444G>T:p.Leu148Phe	coding	Pathogenic
X	38401340	T	G	T38401340G	OTC	NM_000531.6(OTC):c.452T>G:p.Leu151Arg	coding	Pathogenic
X	38401343	C	T	C38401343T	OTC	NM_000531.6(OTC):c.455C>T:p.Ala152Val	coding	Pathogenic
X	38401348	G	T	G38401348T	OTC	NM_000531.6(OTC):c.460G>T:p.Glu154Ter	coding	Pathogenic
X	38401351	G	C	G38401351C	OTC	NM_000531.6(OTC):c.463G>C:p.Ala155Pro	coding	Pathogenic
X	38401351	G	T	G38401351T	OTC	NM_000531.6(OTC):c.463G>T:p.Ala155Ser	coding	Pathogenic
X	38401352	C	A	C38401352A	OTC	NM_000531.6(OTC):c.464C>A:p.Ala155Glu	coding	Pathogenic
X	38401361	C	T	C38401361T	OTC	NM_000531.6(OTC):c.473C>T:p.Pro158Leu	coding	Pathogenic
X	38401364	T	C	T38401364C	OTC	NM_000531.6(OTC):c.476T>C:p.Ile159Thr	coding	Pathogenic
X	38401367	T	A	T38401367A	OTC	NM_000531.6(OTC):c.479T>A:p.Ile160Asn	coding	Pathogenic
X	38401367	T	C	T38401367C	OTC	NM_000531.6(OTC):c.479T>C:p.Ile160Thr	coding	Pathogenic
X	38401367	T	G	T38401367G	OTC	NM_000531.6(OTC):c.479T>G:p.Ile160Ser	coding	Pathogenic
X	38401369	A	G	A38401369G	OTC	NM_000531.6(OTC):c.481A>G:p.Asn161Asp	coding	Pathogenic
X	38401370	A	G	A38401370G	OTC	NM_000531.6(OTC):c.482A>G:p.Asn161Ser	coding	Pathogenic
X	38401372	G	A	G38401372A	OTC	NM_000531.6(OTC):c.484G>A:p.Gly162Arg	coding	Pathogenic
X	38401372	G	C	G38401372C	OTC	NM_000531.6(OTC):c.484G>C:p.Gly162Arg	coding	Pathogenic
X	38401373	G	A	G38401373A	OTC	NM_000531.6(OTC):c.485G>A:p.Gly162Glu	coding	Pathogenic
X	38401376	T	G	T38401376G	OTC	NM_000531.6(OTC):c.488T>G:p.Leu163Arg	coding	Pathogenic
X	38401378	T	C	T38401378C	OTC	NM_000531.6(OTC):c.490T>C:p.Ser164Pro	coding	Pathogenic
X	38401379	C	G	C38401379G	OTC	NM_000531.6(OTC):c.491C>G:p.Ser164Ter	coding	Pathogenic
X	38401381	G	T	G38401381T	OTC	NM_000531.6(OTC):c.493G>T:p.Asp165Tyr	coding	Pathogenic
X	38401389	C	A	C38401389A	OTC	NM_000531.6(OTC):c.501C>A:p.Tyr167Ter	coding	Pathogenic
X	38401389	C	G	C38401389G	OTC	NM_000531.6(OTC):c.501C>G:p.Tyr167Ter	coding	Pathogenic
X	38401391	A	C	A38401391C	OTC	NM_000531.6(OTC):c.503A>C:p.His168Pro	coding	Pathogenic
X	38401391	A	G	A38401391G	OTC	NM_000531.6(OTC):c.503A>G:p.His168Arg	coding	Pathogenic
X	38401392	T	A	T38401392A	OTC	NM_000531.6(OTC):c.504T>A:p.His168Gln	coding	Pathogenic
X	38401394	C	T	C38401394T	OTC	NM_000531.6(OTC):c.506C>T:p.Pro169Leu	coding	Pathogenic
X	38401402	A	T	A38401402T	OTC	NM_000531.6(OTC):c.514A>T:p.Ile172Phe	coding	Pathogenic
X	38401404	C	G	C38401404G	OTC	NM_000531.6(OTC):c.516C>G:p.Ile172Met	coding	Pathogenic
X	38401405	C	G	C38401405G	OTC	NM_000531.6(OTC):c.517C>G:p.Leu173Val	coding	Pathogenic
X	38401408	G	C	G38401408C	OTC	NM_000531.6(OTC):c.520G>C:p.Ala174Pro	coding	Pathogenic
X	38401412	A	G	A38401412G	OTC	NM_000531.6(OTC):c.524A>G:p.Asp175Gly	coding	Pathogenic
X	38401412	A	T	A38401412T	OTC	NM_000531.6(OTC):c.524A>T:p.Asp175Val	coding	Pathogenic
X	38401414	T	C	T38401414C	OTC	NM_000531.6(OTC):c.526T>C:p.Tyr176His	coding	Pathogenic
X	38401415	A	G	A38401415G	OTC	NM_000531.6(OTC):c.527A>G:p.Tyr176Cys	coding	Pathogenic
X	38401421	C	T	C38401421T	OTC	NM_000531.6(OTC):c.533C>T:p.Thr178Met	coding	Pathogenic
X	38401424	T	C	T38401424C	OTC	NM_000531.6(OTC):c.536T>C:p.Leu179Pro	coding	Pathogenic
X	38401428	G	C	G38401428C	OTC	NM_000531.6(OTC):c.540G>C:p.Gln180His	coding	Pathogenic
X	38401429	G	C	G38401429C	OTC	NM_000531.6(OTC):c.540+1G>C	coding	Pathogenic
X	38401429	G	T	G38401429T	OTC	NM_000531.6(OTC):c.540+1G>T	coding	Pathogenic
X	38401430	T	A	T38401430A	OTC	NM_000531.6(OTC):c.540+2T>A	noncoding	Pathogenic
X	38401430	T	C	T38401430C	OTC	NM_000531.6(OTC):c.540+2T>C	noncoding	Pathogenic
X	38401693	G	A	G38401693A	OTC	NM_000531.6(OTC):c.540+265G>A	noncoding	Pathogenic
X	38403313	A	G	A38403313G	OTC	NM_000531.6(OTC):c.541-305A>G	noncoding	Benign
X	38403555	G	A	G38403555A	OTC	NM_000531.6(OTC):c.541-63G>A	noncoding	Benign
X	38403616	A	G	A38403616G	OTC	NM_000531.6(OTC):c.541-2A>G	noncoding	Pathogenic
X	38403619	A	G	A38403619G	OTC	NM_000531.6(OTC):c.542A>G:p.Glu181Gly	coding	Pathogenic
X	38403622	A	T	A38403622T	OTC	NM_000531.6(OTC):c.545A>T:p.His182Leu	coding	Pathogenic
X	38403624	T	G	T38403624G	OTC	NM_000531.6(OTC):c.547T>G:p.Tyr183Asp	coding	Pathogenic
X	38403625	A	G	A38403625G	OTC	NM_000531.6(OTC):c.548A>G:p.Tyr183Cys	coding	Pathogenic
X	38403639	G	C	G38403639C	OTC	NM_000531.6(OTC):c.562G>C:p.Gly188Arg	coding	Pathogenic
X	38403640	G	T	G38403640T	OTC	NM_000531.6(OTC):c.563G>T:p.Gly188Val	coding	Pathogenic
X	38403648	C	T	C38403648T	OTC	NM_000531.6(OTC):c.571C>T:p.Leu191Phe	coding	Pathogenic
X	38403653	C	G	C38403653G	OTC	NM_000531.6(OTC):c.576C>G:p.Ser192Arg	coding	Pathogenic
X	38403654	T	G	T38403654G	OTC	NM_000531.6(OTC):c.577T>G:p.Trp193Gly	coding	Pathogenic
X	38403655	G	A	G38403655A	OTC	NM_000531.6(OTC):c.578G>A:p.Trp193Ter	coding	Pathogenic
X	38403659	C	T	C38403659T	OTC	NM_000531.6(OTC):c.582C>T:p.Ile194=	coding	Benign
X	38403660	G	A	G38403660A	OTC	NM_000531.6(OTC):c.583G>A:p.Gly195Arg	coding	Pathogenic
X	38403661	G	C	G38403661C	OTC	NM_000531.6(OTC):c.584G>C:p.Gly195Ala	coding	Pathogenic
X	38403663	G	A	G38403663A	OTC	NM_000531.6(OTC):c.586G>A:p.Asp196Asn	coding	Pathogenic
X	38403663	G	T	G38403663T	OTC	NM_000531.6(OTC):c.586G>T:p.Asp196Tyr	coding	Pathogenic
X	38403664	A	T	A38403664T	OTC	NM_000531.6(OTC):c.587A>T:p.Asp196Val	coding	Pathogenic
X	38403666	G	A	G38403666A	OTC	NM_000531.6(OTC):c.589G>A:p.Gly197Arg	coding	Pathogenic
X	38403667	G	A	G38403667A	OTC	NM_000531.6(OTC):c.590G>A:p.Gly197Glu	coding	Pathogenic
X	38403670	A	T	A38403670T	OTC	NM_000531.6(OTC):c.593A>T:p.Asn198Ile	coding	Pathogenic
X	38403671	C	A	C38403671A	OTC	NM_000531.6(OTC):c.594C>A:p.Asn198Lys	coding	Pathogenic
X	38403672	A	G	A38403672G	OTC	NM_000531.6(OTC):c.595A>G:p.Asn199Asp	coding	Pathogenic
X	38403673	A	G	A38403673G	OTC	NM_000531.6(OTC):c.596A>G:p.Asn199Ser	coding	Pathogenic/Likely_pathogenic
X	38403679	T	C	T38403679C	OTC	NM_000531.6(OTC):c.602T>C:p.Leu201Pro	coding	Pathogenic
X	38403681	C	T	C38403681T	OTC	NM_000531.6(OTC):c.604C>T:p.His202Tyr	coding	Pathogenic
X	38403682	A	C	A38403682C	OTC	NM_000531.6(OTC):c.605A>C:p.His202Pro	coding	Pathogenic
X	38403685	C	G	C38403685G	OTC	NM_000531.6(OTC):c.608C>G:p.Ser203Cys	coding	Pathogenic
X	38403692	G	C	G38403692C	OTC	NM_000531.6(OTC):c.615G>C:p.Met205Ile	coding	Pathogenic
X	38403694	T	G	T38403694G	OTC	NM_000531.6(OTC):c.617T>G:p.Met206Arg	coding	Pathogenic
X	38403695	G	C	G38403695C	OTC	NM_000531.6(OTC):c.618G>C:p.Met206Ile	coding	Pathogenic
X	38403697	G	A	G38403697A	OTC	NM_000531.6(OTC):c.620G>A:p.Ser207Asn	coding	Pathogenic
X	38403698	C	A	C38403698A	OTC	NM_000531.6(OTC):c.621C>A:p.Ser207Arg	coding	Pathogenic
X	38403698	C	T	C38403698T	OTC	NM_000531.6(OTC):c.621C>T:p.Ser207=	coding	Benign/Likely_benign
X	38403699	G	A	G38403699A	OTC	NM_000531.6(OTC):c.622G>A:p.Ala208Thr	coding	Pathogenic
X	38403703	C	A	C38403703A	OTC	NM_000531.6(OTC):c.626C>A:p.Ala209Glu	coding	Pathogenic
X	38403703	C	T	C38403703T	OTC	NM_000531.6(OTC):c.626C>T:p.Ala209Val	coding	Pathogenic
X	38403705	A	C	A38403705C	OTC	NM_000531.6(OTC):c.628A>C:p.Lys210Gln	coding	Pathogenic
X	38403711	G	T	G38403711T	OTC	NM_000531.6(OTC):c.634G>T:p.Gly212Ter	coding	Pathogenic
X	38403712	G	T	G38403712T	OTC	NM_000531.6(OTC):c.635G>T:p.Gly212Val	coding	Pathogenic
X	38403717	C	T	C38403717T	OTC	NM_000531.6(OTC):c.640C>T:p.His214Tyr	coding	Pathogenic
X	38403720	C	T	C38403720T	OTC	NM_000531.6(OTC):c.643C>T:p.Leu215Phe	coding	Pathogenic
X	38403723	C	G	C38403723G	OTC	NM_000531.6(OTC):c.646C>G:p.Gln216Glu	coding	Pathogenic
X	38403727	C	A	C38403727A	OTC	NM_000531.6(OTC):c.650C>A:p.Ala217Glu	coding	Pathogenic
X	38403729	G	C	G38403729C	OTC	NM_000531.6(OTC):c.652G>C:p.Ala218Pro	coding	Pathogenic
X	38403735	C	G	C38403735G	OTC	NM_000531.6(OTC):c.658C>G:p.Pro220Ala	coding	Pathogenic
X	38403736	C	T	C38403736T	OTC	NM_000531.6(OTC):c.659C>T:p.Pro220Leu	coding	Pathogenic
X	38403740	G	A	G38403740A	OTC	NM_000531.6(OTC):c.663G>A:p.Lys221=	coding	Pathogenic
X	38403740	G	C	G38403740C	OTC	NM_000531.6(OTC):c.663G>C:p.Lys221Asn	coding	Pathogenic
X	38403741	G	A	G38403741A	OTC	NM_000531.6(OTC):c.663+1G>A	coding	Pathogenic
X	38403741	G	T	G38403741T	OTC	NM_000531.6(OTC):c.663+1G>T	coding	Pathogenic
X	38403742	T	C	T38403742C	OTC	NM_000531.6(OTC):c.663+2T>C	noncoding	Pathogenic
X	38403790	A	G	A38403790G	OTC	NM_000531.6(OTC):c.663+50A>G	noncoding	Benign
X	38408522	G	A	G38408522A	OTC	NM_000531.6(OTC):c.664-220G>A	noncoding	Benign
X	38408741	G	A	G38408741A	OTC	NM_000531.6(OTC):c.664-1G>A	noncoding	Pathogenic
X	38408751	C	A	C38408751A	OTC	NM_000531.6(OTC):c.673C>A:p.Pro225Thr	coding	Pathogenic
X	38408752	C	G	C38408752G	OTC	NM_000531.6(OTC):c.674C>G:p.Pro225Arg	coding	Pathogenic
X	38408752	C	T	C38408752T	OTC	NM_000531.6(OTC):c.674C>T:p.Pro225Leu	coding	Pathogenic
X	38408776	C	T	C38408776T	OTC	NM_000531.6(OTC):c.698C>T:p.Ala233Val	coding	Pathogenic
X	38408778	G	T	G38408778T	OTC	NM_000531.6(OTC):c.700G>T:p.Glu234Ter	coding	Pathogenic
X	38408794	A	G	A38408794G	OTC	NM_000531.6(OTC):c.716A>G:p.Glu239Gly	coding	Pathogenic
X	38408794	A	T	A38408794T	OTC	NM_000531.6(OTC):c.716A>T:p.Glu239Val	coding	Pathogenic
X	38408795	G	A	G38408795A	OTC	NM_000531.6(OTC):c.717G>A:p.Glu239=	coding	Pathogenic
X	38408796	G	A	G38408796A	OTC	NM_000531.6(OTC):c.717+1G>A	coding	Pathogenic
X	38408796	G	T	G38408796T	OTC	NM_000531.6(OTC):c.717+1G>T	coding	Pathogenic
X	38408797	T	C	T38408797C	OTC	NM_000531.6(OTC):c.717+2T>C	noncoding	Pathogenic
X	38408798	A	G	A38408798G	OTC	NM_000531.6(OTC):c.717+3A>G	noncoding	Pathogenic
X	38408862	T	C	T38408862C	OTC	NM_000531.6(OTC):c.718-14T>C	noncoding	Benign
X	38408874	A	G	A38408874G	OTC	NM_000531.6(OTC):c.718-2A>G	noncoding	Pathogenic
X	38408883	C	T	C38408883T	OTC	NM_000531.6(OTC):c.725C>T:p.Thr242Ile	coding	Pathogenic
X	38408889	T	A	T38408889A	OTC	NM_000531.6(OTC):c.731T>A:p.Leu244Gln	coding	Pathogenic
X	38408898	C	A	C38408898A	OTC	NM_000531.6(OTC):c.740C>A:p.Thr247Lys	coding	Pathogenic
X	38408898	C	G	C38408898G	OTC	NM_000531.6(OTC):c.740C>G:p.Thr247Arg	coding	Pathogenic
X	38408909	T	C	T38408909C	OTC	NM_000531.6(OTC):c.751T>C:p.Leu251=	coding	Benign/Likely_benign
X	38408915	G	A	G38408915A	OTC	NM_000531.6(OTC):c.757G>A:p.Ala253Thr	coding	Pathogenic
X	38408915	G	C	G38408915C	OTC	NM_000531.6(OTC):c.757G>C:p.Ala253Pro	coding	Pathogenic
X	38408922	A	C	A38408922C	OTC	NM_000531.6(OTC):c.764A>C:p.His255Pro	coding	Pathogenic
X	38408924	G	T	G38408924T	OTC	NM_000531.6(OTC):c.766G>T:p.Gly256Ter	coding	Pathogenic
X	38408937	T	C	T38408937C	OTC	NM_000531.6(OTC):c.779T>C:p.Leu260Ser	coding	Pathogenic
X	38408943	C	A	C38408943A	OTC	NM_000531.6(OTC):c.785C>A:p.Thr262Lys	coding	Pathogenic
X	38408943	C	T	C38408943T	OTC	NM_000531.6(OTC):c.785C>T:p.Thr262Ile	coding	Pathogenic
X	38408945	G	A	G38408945A	OTC	NM_000531.6(OTC):c.787G>A:p.Asp263Asn	coding	Pathogenic
X	38408946	A	G	A38408946G	OTC	NM_000531.6(OTC):c.788A>G:p.Asp263Gly	coding	Pathogenic
X	38408948	A	G	A38408948G	OTC	NM_000531.6(OTC):c.790A>G:p.Thr264Ala	coding	Pathogenic
X	38408949	C	A	C38408949A	OTC	NM_000531.6(OTC):c.791C>A:p.Thr264Asn	coding	Pathogenic
X	38408949	C	T	C38408949T	OTC	NM_000531.6(OTC):c.791C>T:p.Thr264Ile	coding	Pathogenic
X	38408951	T	C	T38408951C	OTC	NM_000531.6(OTC):c.793T>C:p.Trp265Arg	coding	Pathogenic
X	38408952	G	T	G38408952T	OTC	NM_000531.6(OTC):c.794G>T:p.Trp265Leu	coding	Pathogenic
X	38408953	G	A	G38408953A	OTC	NM_000531.6(OTC):c.795G>A:p.Trp265Ter	coding	Pathogenic
X	38408957	A	C	A38408957C	OTC	NM_000531.6(OTC):c.799A>C:p.Ser267Arg	coding	Pathogenic
X	38408961	T	C	T38408961C	OTC	NM_000531.6(OTC):c.803T>C:p.Met268Thr	coding	Pathogenic
X	38408964	G	A	G38408964A	OTC	NM_000531.6(OTC):c.806G>A:p.Gly269Glu	coding	Pathogenic
X	38408966	C	T	C38408966T	OTC	NM_000531.6(OTC):c.808C>T:p.Gln270Ter	coding	Pathogenic
X	38408967	A	C	A38408967C	OTC	NM_000531.6(OTC):c.809A>C:p.Gln270Pro	coding	Pathogenic
X	38408967	A	G	A38408967G	OTC	NM_000531.6(OTC):c.809A>G:p.Gln270Arg	coding	Benign/Likely_benign
X	38408987	C	T	C38408987T	OTC	NM_000531.6(OTC):c.829C>T:p.Arg277Trp	coding	Pathogenic
X	38408988	G	A	G38408988A	OTC	NM_000531.6(OTC):c.830G>A:p.Arg277Gln	coding	Pathogenic
X	38408988	G	T	G38408988T	OTC	NM_000531.6(OTC):c.830G>T:p.Arg277Leu	coding	Pathogenic
X	38408993	C	T	C38408993T	OTC	NM_000531.6(OTC):c.835C>T:p.Gln279Ter	coding	Pathogenic
X	38409025	G	T	G38409025T	OTC	NM_000531.6(OTC):c.867G>T:p.Lys289Asn	coding	Pathogenic
X	38409026	G	A	G38409026A	OTC	NM_000531.6(OTC):c.867+1G>A	coding	Pathogenic
X	38409026	G	T	G38409026T	OTC	NM_000531.6(OTC):c.867+1G>T	coding	Pathogenic
X	38409060	T	G	T38409060G	OTC	NM_000531.6(OTC):c.867+35T>G	noncoding	Benign
X	38411887	G	C	G38411887C	OTC	NM_000531.6(OTC):c.893G>C:p.Trp298Ser	coding	Pathogenic
X	38411898	C	T	C38411898T	OTC	NM_000531.6(OTC):c.904C>T:p.His302Tyr	coding	Pathogenic
X	38411899	A	G	A38411899G	OTC	NM_000531.6(OTC):c.905A>G:p.His302Arg	coding	Pathogenic
X	38411899	A	T	A38411899T	OTC	NM_000531.6(OTC):c.905A>T:p.His302Leu	coding	Pathogenic
X	38411900	C	G	C38411900G	OTC	NM_000531.6(OTC):c.906C>G:p.His302Gln	coding	Pathogenic
X	38411901	T	C	T38411901C	OTC	NM_000531.6(OTC):c.907T>C:p.Cys303Arg	coding	Pathogenic
X	38411901	T	G	T38411901G	OTC	NM_000531.6(OTC):c.907T>G:p.Cys303Gly	coding	Pathogenic
X	38411902	G	A	G38411902A	OTC	NM_000531.6(OTC):c.908G>A:p.Cys303Tyr	coding	Pathogenic
X	38411908	C	A	C38411908A	OTC	NM_000531.6(OTC):c.914C>A:p.Pro305His	coding	Pathogenic
X	38411908	C	G	C38411908G	OTC	NM_000531.6(OTC):c.914C>G:p.Pro305Arg	coding	Pathogenic
X	38411922	G	T	G38411922T	OTC	NM_000531.6(OTC):c.928G>T:p.Glu310Ter	coding	Pathogenic
X	38411923	A	G	A38411923G	OTC	NM_000531.6(OTC):c.929A>G:p.Glu310Gly	coding	Pathogenic
X	38411925	G	A	G38411925A	OTC	NM_000531.6(OTC):c.931G>A:p.Val311Met	coding	Pathogenic
X	38411938	T	A	T38411938A	OTC	NM_000531.6(OTC):c.944T>A:p.Val315Asp	coding	Pathogenic
X	38411938	T	C	T38411938C	OTC	NM_000531.6(OTC):c.944T>C:p.Val315Ala	coding	Pathogenic
X	38411938	T	G	T38411938G	OTC	NM_000531.6(OTC):c.944T>G:p.Val315Gly	coding	Pathogenic
X	38411940	T	G	T38411940G	OTC	NM_000531.6(OTC):c.946T>G:p.Phe316Val	coding	Pathogenic
X	38411941	T	C	T38411941C	OTC	NM_000531.6(OTC):c.947T>C:p.Phe316Ser	coding	Pathogenic
X	38411947	C	T	C38411947T	OTC	NM_000531.6(OTC):c.953C>T:p.Ser318Phe	coding	Pathogenic
X	38411952	C	T	C38411952T	OTC	NM_000531.6(OTC):c.958C>T:p.Arg320Ter	coding	Pathogenic
X	38411953	G	C	G38411953C	OTC	NM_000531.6(OTC):c.959G>C:p.Arg320Pro	coding	Pathogenic
X	38411956	C	A	C38411956A	OTC	NM_000531.6(OTC):c.962C>A:p.Ser321Ter	coding	Pathogenic
X	38411970	G	A	G38411970A	OTC	NM_000531.6(OTC):c.976G>A:p.Glu326Lys	coding	Pathogenic
X	38411976	G	T	G38411976T	OTC	NM_000531.6(OTC):c.982G>T:p.Glu328Ter	coding	Pathogenic
X	38411985	A	T	A38411985T	OTC	NM_000531.6(OTC):c.991A>T:p.Lys331Ter	coding	Pathogenic
X	38411988	T	A	T38411988A	OTC	NM_000531.6(OTC):c.994T>A:p.Trp332Arg	coding	Pathogenic
X	38411989	G	A	G38411989A	OTC	NM_000531.6(OTC):c.995G>A:p.Trp332Ter	coding	Pathogenic
X	38411990	G	A	G38411990A	OTC	NM_000531.6(OTC):c.996G>A:p.Trp332Ter	coding	Pathogenic
X	38411999	G	A	G38411999A	OTC	NM_000531.6(OTC):c.1005G>A:p.Met335Ile	coding	Pathogenic
X	38412000	G	T	G38412000T	OTC	NM_000531.6(OTC):c.1005+1G>T	coding	Pathogenic
X	38412001	T	C	T38412001C	OTC	NM_000531.6(OTC):c.1005+2T>C	noncoding	Pathogenic
X	38412940	T	C	T38412940C	OTC	NM_000531.6(OTC):c.1005+941T>C	noncoding	Benign
X	38413132	A	G	A38413132G	OTC	NM_000531.6(OTC):c.1005+1133A>G	noncoding	Benign
X	38421020	C	G	C38421020G	OTC	NM_000531.6(OTC):c.1006-3C>G	noncoding	Pathogenic
X	38421022	G	A	G38421022A	OTC	NM_000531.6(OTC):c.1006-1G>A	noncoding	Pathogenic
X	38421023	G	T	G38421023T	OTC	NM_000531.6(OTC):c.1006G>T:p.Ala336Ser	coding	Pathogenic
X	38421026	G	C	G38421026C	OTC	NM_000531.6(OTC):c.1009G>C:p.Val337Leu	coding	Pathogenic
X	38421026	G	T	G38421026T	OTC	NM_000531.6(OTC):c.1009G>T:p.Val337Phe	coding	Pathogenic
X	38421032	G	A	G38421032A	OTC	NM_000531.6(OTC):c.1015G>A:p.Val339Met	coding	Pathogenic
X	38421032	G	C	G38421032C	OTC	NM_000531.6(OTC):c.1015G>C:p.Val339Leu	coding	Pathogenic
X	38421035	T	C	T38421035C	OTC	NM_000531.6(OTC):c.1018T>C:p.Ser340Pro	coding	Pathogenic
X	38421039	T	C	T38421039C	OTC	NM_000531.6(OTC):c.1022T>C:p.Leu341Pro	coding	Pathogenic
X	38421045	C	A	C38421045A	OTC	NM_000531.6(OTC):c.1028C>A:p.Thr343Lys	coding	Pathogenic
X	38421050	T	G	T38421050G	OTC	NM_000531.6(OTC):c.1033T>G:p.Tyr345Asp	coding	Pathogenic
X	38421051	A	G	A38421051G	OTC	NM_000531.6(OTC):c.1034A>G:p.Tyr345Cys	coding	Pathogenic
X	38421056	C	A	C38421056A	OTC	NM_000531.6(OTC):c.1039C>A:p.Pro347Thr	coding	Pathogenic
X	38421059	C	T	C38421059T	OTC	NM_000531.6(OTC):c.1042C>T:p.Gln348Ter	coding	Pathogenic
X	38421188	G	A	G38421188A	OTC	NM_000531.6(OTC):c.*106G>A	noncoding	Benign
X	38666276	T	C	T38666276C	TSPAN7	NM_004615.3(TSPAN7):c.237T>C:p.Ala79=	coding	Benign
X	38674316	C	T	C38674316T	TSPAN7	NM_004615.3(TSPAN7):c.441C>T:p.Ser147=	coding	Benign
X	38675779	C	A	C38675779A	TSPAN7	NM_004615.3(TSPAN7):c.516C>A:p.Pro172=	coding	Benign
X	38681258	G	T	G38681258T	TSPAN7	NM_004615.3(TSPAN7):c.652G>T:p.Gly218Ter	coding	Pathogenic
X	38805491	G	A	G38805491A	MID1IP1	NM_001098790.2(MID1IP1):c.545G>A:p.Gly182Asp	coding	Benign
X	40052184	G	A	G40052184A	BCOR	NM_001123385.2(BCOR):c.5193C>T:p.Asn1731=	coding	Benign
X	40052187	C	T	C40052187T	BCOR	NM_001123385.2(BCOR):c.5190G>A:p.Thr1730=	coding	Benign
X	40052335	C	T	C40052335T	BCOR	NM_001123385.2(BCOR):c.5042G>A:p.Arg1681His	coding	Pathogenic
X	40052340	T	A	T40052340A	BCOR	NM_001123385.2(BCOR):c.5037A>T:p.Ile1679=	coding	Benign
X	40052376	C	T	C40052376T	BCOR	NM_001123385.2(BCOR):c.5001G>A:p.Ser1667=	coding	Benign
X	40052404	C	A	C40052404A	BCOR	NM_001123385.2(BCOR):c.4977-4G>T	noncoding	Benign
X	40053902	C	G	C40053902G	BCOR	NM_001123385.2(BCOR):c.4960G>C:p.Val1654Leu	coding	Benign
X	40053931	G	A	G40053931A	BCOR	NM_001123385.2(BCOR):c.4931C>T:p.Thr1644Ile	coding	Benign
X	40053972	G	A	G40053972A	BCOR	NM_001123385.2(BCOR):c.4890C>T:p.Asp1630=	coding	Benign
X	40054038	T	G	T40054038G	BCOR	NM_001123385.2(BCOR):c.4824A>C:p.Pro1608=	coding	Benign
X	40054296	G	A	G40054296A	BCOR	NM_001123385.2(BCOR):c.4779C>T:p.Asp1593=	coding	Benign
X	40055051	A	G	A40055051G	BCOR	NM_001123385.2(BCOR):c.4741+317T>C	noncoding	Benign
X	40055429	C	T	C40055429T	BCOR	NM_001123385.2(BCOR):c.4680G>A:p.Thr1560=	coding	Benign/Likely_benign
X	40055489	G	A	G40055489A	BCOR	NM_001123385.2(BCOR):c.4620C>T:p.Asn1540=	coding	Benign
X	40057210	G	A	G40057210A	BCOR	NM_001123385.2(BCOR):c.4540C>T:p.Arg1514Ter	coding	Pathogenic
X	40062184	G	A	G40062184A	BCOR	NM_001123385.2(BCOR):c.4383C>T:p.Asn1461=	coding	Benign
X	40062262	T	C	T40062262C	BCOR	NM_001123385.2(BCOR):c.4305A>G:p.Pro1435=	coding	Benign
X	40062364	C	T	C40062364T	BCOR	NM_001123385.2(BCOR):c.4203G>A:p.Pro1401=	coding	Benign
X	40062394	C	A	C40062394A	BCOR	NM_001123385.2(BCOR):c.4174-1G>T	coding	Pathogenic
X	40062607	C	A	C40062607A	BCOR	NM_001123385.2(BCOR):c.4173+139G>T	noncoding	Benign
X	40062857	G	A	G40062857A	BCOR	NM_001123385.2(BCOR):c.4062C>T:p.Ser1354=	coding	Benign
X	40062945	T	C	T40062945C	BCOR	NM_001123385.2(BCOR):c.3974A>G:p.Lys1325Arg	coding	Benign
X	40062969	G	A	G40062969A	BCOR	NM_001123385.2(BCOR):c.3950C>T:p.Pro1317Leu	coding	Benign
X	40063081	G	A	G40063081A	BCOR	NM_001123385.2(BCOR):c.3848-10C>T	noncoding	Benign
X	40063601	C	G	C40063601G	BCOR	NM_001123385.2(BCOR):c.3847+7G>C	noncoding	Benign
X	40063624	G	A	G40063624A	BCOR	NM_001123385.2(BCOR):c.3831C>T:p.Pro1277=	coding	Benign
X	40063653	T	C	T40063653C	BCOR	NM_001123385.2(BCOR):c.3802A>G:p.Arg1268Gly	coding	Benign
X	40063786	C	T	C40063786T	BCOR	NM_001123385.2(BCOR):c.3669G>A:p.Ser1223=	coding	Benign
X	40064110	G	T	G40064110T	BCOR	NM_001123385.2(BCOR):c.3503-158C>A	noncoding	Benign
X	40064209	C	A	C40064209A	BCOR	NM_001123385.2(BCOR):c.3502+127G>T	noncoding	Benign
X	40064347	C	T	C40064347T	BCOR	NM_001123385.2(BCOR):c.3491G>A:p.Arg1164Gln	coding	Benign
X	40064348	G	A	G40064348A	BCOR	NM_001123385.2(BCOR):c.3490C>T:p.Arg1164Ter	coding	Pathogenic
X	40064351	G	A	G40064351A	BCOR	NM_001123385.2(BCOR):c.3487C>T:p.Arg1163Ter	coding	Pathogenic
X	40064425	A	G	A40064425G	BCOR	NM_001123385.2(BCOR):c.3413T>C:p.Val1138Ala	coding	Benign/Likely_benign
X	40064460	G	A	G40064460A	BCOR	NM_001123385.2(BCOR):c.3378C>T:p.His1126=	coding	Benign
X	40064472	C	T	C40064472T	BCOR	NM_001123385.2(BCOR):c.3366G>A:p.Ser1122=	coding	Benign
X	40064561	C	T	C40064561T	BCOR	NM_001123385.2(BCOR):c.3277G>A:p.Glu1093Lys	coding	Benign
X	40070985	C	T	C40070985T	BCOR	NM_001123385.2(BCOR):c.3226G>A:p.Glu1076Lys	coding	Benign
X	40071073	G	A	G40071073A	BCOR	NM_001123385.2(BCOR):c.3138C>T:p.Phe1046=	coding	Benign
X	40071132	C	A	C40071132A	BCOR	NM_001123385.2(BCOR):c.3079G>T:p.Glu1027Ter	coding	Pathogenic
X	40071652	G	A	G40071652A	BCOR	NM_001123385.2(BCOR):c.3036C>T:p.Pro1012=	coding	Benign
X	40072420	G	A	G40072420A	BCOR	NM_001123385.2(BCOR):c.2926C>T:p.Arg976Ter	coding	Pathogenic
X	40072655	C	G	C40072655G	BCOR	NM_001123385.2(BCOR):c.2691G>C:p.Ser897=	coding	Benign
X	40072713	A	G	A40072713G	BCOR	NM_001123385.2(BCOR):c.2633T>C:p.Val878Ala	coding	Benign
X	40072748	G	A	G40072748A	BCOR	NM_001123385.2(BCOR):c.2598C>T:p.His866=	coding	Benign
X	40072918	G	A	G40072918A	BCOR	NM_001123385.2(BCOR):c.2428C>T:p.Arg810Ter	coding	Pathogenic
X	40072922	A	G	A40072922G	BCOR	NM_001123385.2(BCOR):c.2424T>C:p.Leu808=	coding	Benign
X	40072923	A	T	A40072923T	BCOR	NM_001123385.2(BCOR):c.2423T>A:p.Leu808His	coding	Benign
X	40073058	C	A	C40073058A	BCOR	NM_001123385.2(BCOR):c.2288G>T:p.Arg763Leu	coding	Benign
X	40073217	C	T	C40073217T	BCOR	NM_001123385.2(BCOR):c.2129G>A:p.Arg710His	coding	Benign
X	40073222	G	A	G40073222A	BCOR	NM_001123385.2(BCOR):c.2124C>T:p.Thr708=	coding	Benign
X	40073314	G	A	G40073314A	BCOR	NM_001123385.2(BCOR):c.2032C>T:p.Pro678Ser	coding	Benign
X	40073498	G	A	G40073498A	BCOR	NM_001123385.2(BCOR):c.1848C>T:p.Gly616=	coding	Benign
X	40073555	G	A	G40073555A	BCOR	NM_001123385.2(BCOR):c.1791C>T:p.His597=	coding	Benign
X	40073567	G	T	G40073567T	BCOR	NM_001123385.2(BCOR):c.1779C>A:p.Ser593=	coding	Benign
X	40073654	T	C	T40073654C	BCOR	NM_001123385.2(BCOR):c.1692A>G:p.Ala564=	coding	Benign
X	40073677	C	T	C40073677T	BCOR	NM_001123385.2(BCOR):c.1669G>A:p.Val557Ile	coding	Benign
X	40073696	G	A	G40073696A	BCOR	NM_001123385.2(BCOR):c.1650C>T:p.Thr550=	coding	Benign/Likely_benign
X	40073701	C	T	C40073701T	BCOR	NM_001123385.2(BCOR):c.1645G>A:p.Gly549Ser	coding	Benign
X	40073726	C	T	C40073726T	BCOR	NM_001123385.2(BCOR):c.1620G>A:p.Arg540=	coding	Benign
X	40073898	G	A	G40073898A	BCOR	NM_001123385.2(BCOR):c.1448C>T:p.Pro483Leu	coding	Benign
X	40074086	A	G	A40074086G	BCOR	NM_001123385.2(BCOR):c.1260T>C:p.Asp420=	coding	Benign
X	40074089	T	C	T40074089C	BCOR	NM_001123385.2(BCOR):c.1257A>G:p.Lys419=	coding	Benign
X	40074322	G	A	G40074322A	BCOR	NM_001123385.2(BCOR):c.1024C>T:p.Arg342Ter	coding	Pathogenic
X	40074371	C	A	C40074371A	BCOR	NM_001123385.2(BCOR):c.975G>T:p.Leu325=	coding	Benign
X	40074400	G	A	G40074400A	BCOR	NM_001123385.2(BCOR):c.946C>T:p.Pro316Ser	coding	Benign
X	40074440	G	A	G40074440A	BCOR	NM_001123385.2(BCOR):c.906C>T:p.His302=	coding	Benign
X	40074566	G	A	G40074566A	BCOR	NM_001123385.2(BCOR):c.780C>T:p.Ser260=	coding	Benign/Likely_benign
X	40074570	G	T	G40074570T	BCOR	NM_001123385.2(BCOR):c.776C>A:p.Ser259Ter	coding	Pathogenic
X	40074587	G	A	G40074587A	BCOR	NM_001123385.2(BCOR):c.759C>T:p.Val253=	coding	Benign
X	40074720	G	A	G40074720A	BCOR	NM_001123385.2(BCOR):c.626C>T:p.Ser209Leu	coding	Benign
X	40074864	G	A	G40074864A	BCOR	NM_001123385.2(BCOR):c.482C>T:p.Ala161Val	coding	Benign
X	40075092	G	A	G40075092A	BCOR	NM_001123385.2(BCOR):c.254C>T:p.Pro85Leu	coding	Pathogenic
X	40075235	C	T	C40075235T	BCOR	NM_001123385.2(BCOR):c.166-55G>A	noncoding	Benign
X	40581020	C	A	C40581020A	ATP6AP2	NM_005765.3(ATP6AP2):c.-46C>A	noncoding	Benign
X	40581031	G	C	G40581031C	ATP6AP2	NM_005765.3(ATP6AP2):c.-35G>C	noncoding	Benign
X	40588981	T	C	T40588981C	ATP6AP2	NM_005765.3(ATP6AP2):c.38-5T>C	noncoding	Benign
X	40589122	T	A	T40589122A	ATP6AP2	NM_005765.3(ATP6AP2):c.168+6T>A	noncoding	Pathogenic
X	40591254	C	T	C40591254T	ATP6AP2	NM_005765.3(ATP6AP2):c.189C>T:p.Leu63=	coding	Benign/Likely_benign
X	40591333	C	G	C40591333G	ATP6AP2	NM_005765.3(ATP6AP2):c.268C>G:p.Pro90Ala	coding	Benign
X	40591350	G	A	G40591350A	ATP6AP2	NM_005765.3(ATP6AP2):c.285G>A:p.Ser95=	coding	Benign
X	40591358	T	C	T40591358C	ATP6AP2	NM_005765.3(ATP6AP2):c.293T>C:p.Leu98Ser	coding	Pathogenic
X	40597043	T	C	T40597043C	ATP6AP2	NM_005765.3(ATP6AP2):c.301-206T>C	noncoding	Benign
X	40597045	A	T	A40597045T	ATP6AP2	NM_005765.3(ATP6AP2):c.301-204A>T	noncoding	Benign
X	40597269	C	T	C40597269T	ATP6AP2	NM_005765.3(ATP6AP2):c.321C>T:p.Asp107=	coding	Pathogenic
X	40597293	C	T	C40597293T	ATP6AP2	NM_005765.3(ATP6AP2):c.345C>T:p.Ser115=	coding	Pathogenic
X	40597305	G	A	G40597305A	ATP6AP2	NM_005765.3(ATP6AP2):c.357G>A:p.Glu119=	coding	Benign
X	40597894	G	A	G40597894A	ATP6AP2	NM_005765.3(ATP6AP2):c.534+230G>A	noncoding	Benign
X	40598994	G	A	G40598994A	ATP6AP2	NM_005765.3(ATP6AP2):c.588+260G>A	noncoding	Benign
X	40599833	T	C	T40599833C	ATP6AP2	NM_005765.3(ATP6AP2):c.738+92T>C	noncoding	Benign
X	40600597	A	C	A40600597C	ATP6AP2	NM_005765.3(ATP6AP2):c.739-165A>C	noncoding	Benign
X	40600788	T	C	T40600788C	ATP6AP2	NM_005765.3(ATP6AP2):c.765T>C:p.Tyr255=	coding	Benign
X	40600964	A	T	A40600964T	ATP6AP2	NM_005765.3(ATP6AP2):c.858+83A>T	noncoding	Benign
X	40605570	G	C	G40605570C	ATP6AP2	NM_005765.3(ATP6AP2):c.868G>C:p.Ala290Pro	coding	Benign
X	40605752	T	C	T40605752C	ATP6AP2	NM_005765.3(ATP6AP2):c.1050T>C:p.Asp350=	coding	Benign
X	40654533	C	T	C40654533T	MED14	NM_004229.4(MED14):c.4122G>A:p.Ser1374=	coding	Benign
X	40659263	G	A	G40659263A	MED14	NM_004229.4(MED14):c.3936C>T:p.Ile1312=	coding	Benign
X	40692741	G	A	G40692741A	MED14	NM_004229.4(MED14):c.1812C>T:p.Thr604=	coding	Benign
X	41131500	G	T	G41131500T	USP9X	NM_001039591.3(USP9X):c.286G>T:p.Val96Leu	coding	Benign/Likely_benign
X	41136963	A	G	A41136963G	USP9X	NM_001039591.3(USP9X):c.595A>G:p.Ser199Gly	coding	Benign
X	41137011	C	T	C41137011T	USP9X	NM_001039591.3(USP9X):c.643C>T:p.Arg215Ter	coding	Pathogenic
X	41141381	C	T	C41141381T	USP9X	NM_001039591.3(USP9X):c.1111C>T:p.Arg371Ter	coding	Pathogenic
X	41141410	G	A	G41141410A	USP9X	NM_001039591.3(USP9X):c.1140G>A:p.Trp380Ter	coding	Pathogenic
X	41144581	G	A	G41144581A	USP9X	NM_001039591.3(USP9X):c.1374G>A:p.Trp458Ter	coding	Pathogenic
X	41151058	G	A	G41151058A	USP9X	NM_001039591.3(USP9X):c.1763+1G>A	coding	Pathogenic
X	41165890	T	A	T41165890A	USP9X	NM_001039591.3(USP9X):c.2004T>A:p.Gly668=	coding	Benign
X	41166110	C	T	C41166110T	USP9X	NM_001039591.3(USP9X):c.2224C>T:p.Arg742Ter	coding	Pathogenic
X	41168136	C	T	C41168136T	USP9X	NM_001039591.3(USP9X):c.2554C>T:p.Arg852Ter	coding	Pathogenic
X	41170234	C	A	C41170234A	USP9X	NM_001039591.3(USP9X):c.2876C>A:p.Ser959Ter	coding	Pathogenic
X	41171831	A	G	A41171831G	USP9X	NM_001039591.3(USP9X):c.3028-7A>G	noncoding	Benign
X	41171836	A	G	A41171836G	USP9X	NM_001039591.3(USP9X):c.3028-2A>G	noncoding	Pathogenic
X	41171849	G	C	G41171849C	USP9X	NM_001039591.3(USP9X):c.3039G>C:p.Leu1013=	coding	Benign
X	41188070	C	T	C41188070T	USP9X	NM_001039591.3(USP9X):c.3763C>T:p.Gln1255Ter	coding	Pathogenic
X	41201205	C	T	C41201205T	USP9X	NM_001039591.3(USP9X):c.4749C>T:p.Asn1583=	coding	Benign
X	41201268	G	A	G41201268A	USP9X	NM_001039591.3(USP9X):c.4812G>A:p.Lys1604=	coding	Benign
X	41214651	T	A	T41214651A	USP9X	NM_001039591.3(USP9X):c.5273T>A:p.Val1758Asp	coding	Pathogenic
X	41215962	C	T	C41215962T	USP9X	NM_001039591.3(USP9X):c.5395C>T:p.Arg1799Ter	coding	Pathogenic
X	41216285	A	G	A41216285G	USP9X	NM_001039591.3(USP9X):c.5718A>G:p.Thr1906=	coding	Benign
X	41216465	A	T	A41216465T	USP9X	NM_001039591.3(USP9X):c.5898A>T:p.Ile1966=	coding	Benign
X	41216487	A	G	A41216487G	USP9X	NM_001039591.3(USP9X):c.5920A>G:p.Ile1974Val	coding	Benign/Likely_benign
X	41216571	C	T	C41216571T	USP9X	NM_001039591.3(USP9X):c.6004C>T:p.Arg2002Ter	coding	Pathogenic
X	41216651	C	T	C41216651T	USP9X	NM_001039591.3(USP9X):c.6084C>T:p.Pro2028=	coding	Benign/Likely_benign
X	41217239	T	C	T41217239C	USP9X	NM_001039591.3(USP9X):c.6105T>C:p.Pro2035=	coding	Benign
X	41217349	T	G	T41217349G	USP9X	NM_001039591.3(USP9X):c.6209+6T>G	noncoding	Benign
X	41218440	T	A	T41218440A	USP9X	NM_001039591.3(USP9X):c.6278T>A:p.Leu2093His	coding	Pathogenic
X	41229398	C	T	C41229398T	USP9X	NM_001039591.3(USP9X):c.7207C>T:p.Gln2403Ter	coding	Pathogenic
X	41229415	G	C	G41229415C	USP9X	NM_001039591.3(USP9X):c.7218+6G>C	noncoding	Benign
X	41230539	G	A	G41230539A	USP9X	NM_001039591.3(USP9X):c.7470G>A:p.Ser2490=	coding	Benign
X	41334255	G	C	G41334255C	DDX3X	NM_001356.4(DDX3X):c.3G>C:p.Met1Ile	coding	Pathogenic
X	41334292	C	T	C41334292T	DDX3X	NM_001193416.3(DDX3X):c.40C>T:p.Gln14Ter	coding	Pathogenic
X	41337467	T	C	T41337467C	DDX3X	NM_001356.5(DDX3X):c.103+2T>C	noncoding	Pathogenic
X	41339026	A	T	A41339026T	DDX3X	NM_001193416.3(DDX3X):c.104-10A>T	noncoding	Benign
X	41339051	C	G	C41339051G	DDX3X	NM_001356.4(DDX3X):c.119C>G:p.Pro40Arg	coding	Pathogenic
X	41339053	C	T	C41339053T	DDX3X	NM_001356.4(DDX3X):c.121C>T:p.Pro41Ser	coding	Pathogenic/Likely_pathogenic
X	41339068	C	T	C41339068T	DDX3X	NM_001193416.3(DDX3X):c.136C>T:p.Arg46Ter	coding	Pathogenic
X	41339080	A	T	A41339080T	DDX3X	NM_001356.4(DDX3X):c.148A>T:p.Lys50Ter	coding	Pathogenic
X	41341483	G	C	G41341483C	DDX3X	NM_001356.4(DDX3X):c.152-1G>C	noncoding	Pathogenic
X	41341505	C	G	C41341505G	DDX3X	NM_001356.5(DDX3X):c.173C>G:p.Ser58Ter	coding	Pathogenic
X	41341565	C	G	C41341565G	DDX3X	NM_001356.4(DDX3X):c.233C>G:p.Ser78Ter	coding	Pathogenic
X	41341566	A	T	A41341566T	DDX3X	NM_001356.4(DDX3X):c.234A>T:p.Ser78=	coding	Benign
X	41341617	G	C	G41341617C	DDX3X	NM_001356.4(DDX3X):c.284+1G>C	coding	Pathogenic
X	41342572	G	T	G41342572T	DDX3X	NM_001356.4(DDX3X):c.362G>T:p.Arg121Leu	coding	Pathogenic
X	41342590	G	A	G41342590A	DDX3X	NM_001356.5(DDX3X):c.380G>A:p.Trp127Ter	coding	Pathogenic
X	41342652	C	T	C41342652T	DDX3X	NM_001356.5(DDX3X):c.442C>T:p.Gln148Ter	coding	Pathogenic
X	41342841	G	A	G41342841A	DDX3X	NM_001356.4(DDX3X):c.543+5G>A	noncoding	Pathogenic
X	41343215	G	T	G41343215T	DDX3X	NM_001356.4(DDX3X):c.544-1G>T	noncoding	Pathogenic
X	41343249	G	T	G41343249T	DDX3X	NM_001356.4(DDX3X):c.577G>T:p.Gly193Ter	coding	Pathogenic/Likely_pathogenic
X	41343288	G	A	G41343288A	DDX3X	NM_001356.4(DDX3X):c.616G>A:p.Val206Met	coding	Pathogenic
X	41343291	C	T	C41343291T	DDX3X	NM_001356.4(DDX3X):c.619C>T:p.Gln207Ter	coding	Pathogenic
X	41343307	C	A	C41343307A	DDX3X	NM_001356.4(DDX3X):c.635C>A:p.Pro212His	coding	Pathogenic
X	41343315	A	T	A41343315T	DDX3X	NM_001356.5(DDX3X):c.643A>T:p.Lys215Ter	coding	Pathogenic
X	41343331	T	C	T41343331C	DDX3X	NM_001356.4(DDX3X):c.659T>C:p.Leu220Ser	coding	Pathogenic
X	41343346	A	G	A41343346G	DDX3X	NM_001356.5(DDX3X):c.674A>G:p.Gln225Arg	coding	Pathogenic
X	41343802	G	T	G41343802T	DDX3X	NM_001356.4(DDX3X):c.745G>T:p.Glu249Ter	coding	Pathogenic
X	41343823	G	A	G41343823A	DDX3X	NM_001356.5(DDX3X):c.765+1G>A	coding	Pathogenic
X	41344044	T	G	T41344044G	DDX3X	NM_001356.5(DDX3X):c.780T>G:p.Tyr260Ter	coding	Pathogenic
X	41344113	C	T	C41344113T	DDX3X	NM_001193416.3(DDX3X):c.849C>T:p.Tyr283=	coding	Benign
X	41344126	A	G	A41344126G	DDX3X	NM_001356.4(DDX3X):c.862A>G:p.Lys288Glu	coding	Pathogenic
X	41344237	A	G	A41344237G	DDX3X	NM_001356.5(DDX3X):c.865-2A>G	noncoding	Pathogenic
X	41344238	G	C	G41344238C	DDX3X	NM_001356.4(DDX3X):c.865-1G>C	noncoding	Pathogenic
X	41344243	C	G	C41344243G	DDX3X	NM_001356.4(DDX3X):c.869C>G:p.Ser290Ter	coding	Pathogenic
X	41344247	C	A	C41344247A	DDX3X	NM_001356.4(DDX3X):c.873C>A:p.Tyr291Ter	coding	Pathogenic
X	41344248	C	T	C41344248T	DDX3X	NM_001356.4(DDX3X):c.874C>T:p.Arg292Ter	coding	Pathogenic/Likely_pathogenic
X	41344305	C	T	C41344305T	DDX3X	NM_001356.5(DDX3X):c.931C>T:p.Arg311Ter	coding	Pathogenic
X	41344343	T	C	T41344343C	DDX3X	NM_001356.4(DDX3X):c.969T>C:p.Thr323=	coding	Benign/Likely_benign
X	41344350	C	T	C41344350T	DDX3X	NM_001356.4(DDX3X):c.976C>T:p.Arg326Cys	coding	Pathogenic/Likely_pathogenic
X	41344351	G	A	G41344351A	DDX3X	NM_001356.4(DDX3X):c.977G>A:p.Arg326His	coding	Pathogenic
X	41345238	C	T	C41345238T	DDX3X	NM_001356.4(DDX3X):c.1084C>T:p.Arg362Cys	coding	Pathogenic
X	41345280	C	T	C41345280T	DDX3X	NM_001356.4(DDX3X):c.1126C>T:p.Arg376Cys	coding	Pathogenic/Likely_pathogenic
X	41345281	G	A	G41345281A	DDX3X	NM_001356.5(DDX3X):c.1127G>A:p.Arg376His	coding	Pathogenic
X	41345298	A	C	A41345298C	DDX3X	NM_001356.4(DDX3X):c.1144A>C:p.Ser382Arg	coding	Pathogenic
X	41345302	C	G	C41345302G	DDX3X	NM_001356.5(DDX3X):c.1148C>G:p.Ala383Gly	coding	Pathogenic
X	41345403	G	C	G41345403C	DDX3X	NM_001193416.3(DDX3X):c.1171-1G>C	noncoding	Pathogenic
X	41346227	A	G	A41346227G	DDX3X	NM_001356.5(DDX3X):c.1316-2A>G	noncoding	Pathogenic
X	41346247	T	G	T41346247G	DDX3X	NM_001356.4(DDX3X):c.1334T>G:p.Leu445Ter	coding	Pathogenic
X	41346303	G	T	G41346303T	DDX3X	NM_001356.5(DDX3X):c.1390G>T:p.Glu464Ter	coding	Pathogenic
X	41346336	C	G	C41346336G	DDX3X	NM_001356.4(DDX3X):c.1423C>G:p.Arg475Gly	coding	Pathogenic/Likely_pathogenic
X	41346336	C	T	C41346336T	DDX3X	NM_001193416.3(DDX3X):c.1423C>T:p.Arg475Cys	coding	Pathogenic/Likely_pathogenic
X	41346342	C	G	C41346342G	DDX3X	NM_001356.4(DDX3X):c.1429C>G:p.Gln477Glu	coding	Pathogenic
X	41346342	C	T	C41346342T	DDX3X	NM_001356.5(DDX3X):c.1429C>T:p.Gln477Ter	coding	Pathogenic
X	41346347	G	A	G41346347A	DDX3X	NM_001193416.3(DDX3X):c.1434G>A:p.Arg478=	coding	Benign
X	41346351	A	G	A41346351G	DDX3X	NM_001356.4(DDX3X):c.1438A>G:p.Arg480Gly	coding	Pathogenic
X	41346352	G	C	G41346352C	DDX3X	NM_001356.4(DDX3X):c.1439G>C:p.Arg480Thr	coding	Pathogenic/Likely_pathogenic
X	41346361	C	A	C41346361A	DDX3X	NM_001356.5(DDX3X):c.1448C>A:p.Ala483Asp	coding	Pathogenic
X	41346376	G	A	G41346376A	DDX3X	NM_001193416.3(DDX3X):c.1463G>A:p.Arg488His	coding	Pathogenic/Likely_pathogenic
X	41346403	C	T	C41346403T	DDX3X	NM_001356.4(DDX3X):c.1490C>T:p.Ala497Val	coding	Pathogenic
X	41346406	C	T	C41346406T	DDX3X	NM_001356.4(DDX3X):c.1493C>T:p.Thr498Ile	coding	Pathogenic
X	41346503	A	G	A41346503G	DDX3X	NM_001356.4(DDX3X):c.1498-2A>G	noncoding	Pathogenic
X	41346518	G	A	G41346518A	DDX3X	NM_001356.5(DDX3X):c.1511G>A:p.Gly504Glu	coding	Pathogenic
X	41346527	T	C	T41346527C	DDX3X	NM_001356.4(DDX3X):c.1520T>C:p.Ile507Thr	coding	Pathogenic
X	41346548	T	C	T41346548C	DDX3X	NM_001193416.3(DDX3X):c.1541T>C:p.Ile514Thr	coding	Pathogenic
X	41346602	C	T	C41346602T	DDX3X	NM_001356.4(DDX3X):c.1595C>T:p.Thr532Met	coding	Pathogenic
X	41346607	C	G	C41346607G	DDX3X	NM_001356.4(DDX3X):c.1600C>G:p.Arg534Gly	coding	Pathogenic
X	41346946	C	T	C41346946T	DDX3X	NM_001356.4(DDX3X):c.1703C>T:p.Pro568Leu	coding	Pathogenic
X	41347013	G	A	G41347013A	DDX3X	NM_001356.4(DDX3X):c.1769+1G>A	coding	Pathogenic
X	41347309	T	C	T41347309C	DDX3X	NM_001356.4(DDX3X):c.1770-3T>C	noncoding	Benign
X	41347349	C	T	C41347349T	DDX3X	NM_001193416.3(DDX3X):c.1804C>T:p.Arg602Ter	coding	Pathogenic
X	41347668	T	C	T41347668C	DDX3X	NM_001193416.3(DDX3X):c.1935T>C:p.Asp645=	coding	Benign
X	41447576	A	G	A41447576G	NYX	NM_022567.2(NYX):c.-314A>G	noncoding	Benign
X	41447611	T	C	T41447611C	NYX	NM_022567.2(NYX):c.-279T>C	noncoding	Benign
X	41473558	C	A	C41473558A	NYX	NM_022567.2(NYX):c.105C>A:p.Cys35Ter	coding	Pathogenic
X	41473675	G	A	G41473675A	NYX	NM_001378477.1(NYX):c.222G>A:p.Leu74=	coding	Benign
X	41473734	G	C	G41473734C	NYX	NM_022567.2(NYX):c.281G>C:p.Arg94Pro	coding	Pathogenic
X	41473755	T	C	T41473755C	NYX	NM_022567.2(NYX):c.302T>C:p.Ile101Thr	coding	Pathogenic
X	41474100	A	G	A41474100G	NYX	NM_001378477.1(NYX):c.647A>G:p.Asn216Ser	coding	Pathogenic
X	41474226	C	T	C41474226T	NYX	NM_022567.2(NYX):c.773C>T:p.Thr258Met	coding	Benign
X	41474250	T	C	T41474250C	NYX	NM_022567.2(NYX):c.797T>C:p.Leu266Pro	coding	Pathogenic
X	41474296	G	A	G41474296A	NYX	NM_022567.2(NYX):c.843G>A:p.Glu281=	coding	Benign/Likely_benign
X	41474488	G	A	G41474488A	NYX	NM_022567.2(NYX):c.1035G>A:p.Glu345=	coding	Benign/Likely_benign
X	41474502	G	A	G41474502A	NYX	NM_022567.2(NYX):c.1049G>A:p.Trp350Ter	coding	Pathogenic
X	41474633	C	T	C41474633T	NYX	NM_022567.2(NYX):c.1180C>T:p.Leu394Phe	coding	Benign
X	41474670	C	G	C41474670G	NYX	NM_022567.2(NYX):c.1217C>G:p.Ala406Gly	coding	Benign
X	41474704	C	T	C41474704T	NYX	NM_022567.2(NYX):c.1251C>T:p.Leu417=	coding	Benign
X	41474706	C	G	C41474706G	NYX	NM_022567.2(NYX):c.1253C>G:p.Ser418Cys	coding	Benign
X	41474847	G	T	G41474847T	NYX	NM_022567.2(NYX):c.1394G>T:p.Cys465Phe	coding	Benign/Likely_benign
X	41475408	G	C	G41475408C	NYX	NM_022567.2(NYX):c.*509G>C	noncoding	Benign
X	41520444	C	T	C41520444T	CASK	NM_003688.3(CASK):c.2742G>A:p.Trp914Ter	coding	Pathogenic
X	41520446	A	G	A41520446G	CASK	NM_003688.3(CASK):c.2740T>C:p.Trp914Arg	coding	Pathogenic
X	41520556	A	C	A41520556C	CASK	NM_003688.3(CASK):c.2630T>G:p.Leu877Ter	coding	Pathogenic
X	41523950	C	A	C41523950A	CASK	NM_003688.3(CASK):c.2589+1G>T	noncoding	Pathogenic
X	41523966	A	C	A41523966C	CASK	NM_003688.3(CASK):c.2574T>G:p.Thr858=	coding	Benign
X	41524028	T	A	T41524028A	CASK	NM_003688.3(CASK):c.2512A>T:p.Lys838Ter	coding	Pathogenic
X	41524036	T	A	T41524036A	CASK	NM_003688.3(CASK):c.2506-2A>T	noncoding	Benign
X	41524036	T	C	T41524036C	CASK	NM_003688.3(CASK):c.2506-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	41531042	G	A	G41531042A	CASK	NM_001367721.1(CASK):c.2485C>T:p.Gln829Ter	coding	Pathogenic
X	41531085	C	T	C41531085T	CASK	NM_001367721.1(CASK):c.2442G>A:p.Ala814=	coding	Benign
X	41531094	G	A	G41531094A	CASK	NM_003688.3(CASK):c.2418C>T:p.His806=	coding	Benign/Likely_benign
X	41531118	G	A	G41531118A	CASK	NM_003688.3(CASK):c.2394C>T:p.Asn798=	coding	Benign
X	41531135	G	A	G41531135A	CASK	NM_001367721.1(CASK):c.2392C>T:p.Gln798Ter	coding	Pathogenic
X	41531144	G	A	G41531144A	CASK	NM_003688.3(CASK):c.2368C>T:p.Gln790Ter	coding	Pathogenic
X	41531183	C	A	C41531183A	CASK	NM_003688.3(CASK):c.2329G>T:p.Glu777Ter	coding	Pathogenic
X	41531211	T	C	T41531211C	CASK	NM_003688.3(CASK):c.2303-2A>G	noncoding	Pathogenic
X	41531460	T	G	T41531460G	CASK	NM_003688.3(CASK):c.2303-251A>C	noncoding	Benign
X	41534705	C	T	C41534705T	CASK	NM_003688.3(CASK):c.2302+1G>A	noncoding	Pathogenic
X	41534931	T	C	T41534931C	CASK	NM_001367721.1(CASK):c.2198A>G:p.Lys733Arg	coding	Benign
X	41534954	A	G	A41534954G	CASK	NM_003688.3(CASK):c.2160T>C:p.Leu720=	coding	Benign/Likely_benign
X	41534957	A	G	A41534957G	CASK	NM_003688.3(CASK):c.2157T>C:p.Asp719=	coding	Benign/Likely_benign
X	41542689	A	G	A41542689G	CASK	NM_003688.3(CASK):c.2155+2T>C	noncoding	Pathogenic
X	41542746	C	T	C41542746T	CASK	NM_003688.3(CASK):c.2100G>A:p.Trp700Ter	coding	Pathogenic
X	41542772	G	A	G41542772A	CASK	NM_001367721.1(CASK):c.2074C>T:p.Gln692Ter	coding	Pathogenic/Likely_pathogenic
X	41542781	T	A	T41542781A	CASK	NM_001367721.1(CASK):c.2065A>T:p.Lys689Ter	coding	Pathogenic
X	41542805	G	A	G41542805A	CASK	NM_003688.3(CASK):c.2041C>T:p.Arg681Ter	coding	Pathogenic
X	41542807	C	T	C41542807T	CASK	NM_003688.3(CASK):c.2040-1G>A	coding	Pathogenic
X	41542815	T	C	T41542815C	CASK	NM_003688.3(CASK):c.2040-9A>G	noncoding	Benign/Likely_benign
X	41553476	T	C	T41553476C	CASK	NM_003688.3(CASK):c.2039+243A>G	noncoding	Benign
X	41553704	C	T	C41553704T	CASK	NM_003688.3(CASK):c.2039+15G>A	noncoding	Benign
X	41553739	A	C	A41553739C	CASK	NM_001367721.1(CASK):c.2019T>G:p.Pro673=	coding	Benign
X	41553782	C	T	C41553782T	CASK	NM_003688.3(CASK):c.1976G>A:p.Gly659Asp	coding	Pathogenic
X	41553788	C	T	C41553788T	CASK	NM_003688.3(CASK):c.1970G>A:p.Trp657Ter	coding	Pathogenic
X	41553843	G	A	G41553843A	CASK	NM_003688.3(CASK):c.1915C>T:p.Arg639Ter	coding	Pathogenic
X	41553894	C	A	C41553894A	CASK	NM_001367721.1(CASK):c.1864G>T:p.Glu622Ter	coding	Pathogenic
X	41553917	T	A	T41553917A	CASK	NM_003688.3(CASK):c.1843-2A>T	noncoding	Pathogenic
X	41555605	G	A	G41555605A	CASK	NM_003688.3(CASK):c.1837C>T:p.Arg613Ter	coding	Pathogenic
X	41557044	G	A	G41557044A	CASK	NM_001367721.1(CASK):c.1794C>T:p.Asn598=	coding	Benign/Likely_benign
X	41559830	A	G	A41559830G	CASK	NM_003688.3(CASK):c.1686T>C:p.Ser562=	coding	Benign
X	41559854	G	T	G41559854T	CASK	NM_003688.3(CASK):c.1669-7C>A	noncoding	Benign
X	41559856	G	T	G41559856T	CASK	NM_001367721.1(CASK):c.1669-9C>A	noncoding	Benign/Likely_benign
X	41561588	G	A	G41561588A	CASK	NM_001367721.1(CASK):c.1639C>T:p.Gln547Ter	coding	Pathogenic
X	41561618	G	A	G41561618A	CASK	NM_003688.3(CASK):c.1609C>T:p.Arg537Ter	coding	Pathogenic/Likely_pathogenic
X	41569748	T	G	T41569748G	CASK	NM_003688.3(CASK):c.1504-2A>C	noncoding	Pathogenic
X	41578363	G	A	G41578363A	CASK	NM_003688.3(CASK):c.1480C>T:p.Gln494Ter	coding	Pathogenic
X	41578378	G	A	G41578378A	CASK	NM_003688.3(CASK):c.1465C>T:p.Arg489Trp	coding	Pathogenic/Likely_pathogenic
X	41578451	G	A	G41578451A	CASK	NM_003688.3(CASK):c.1392C>T:p.Thr464=	coding	Benign/Likely_benign
X	41578535	T	C	T41578535C	CASK	NM_003688.3(CASK):c.1315-7A>G	noncoding	Pathogenic
X	41589242	G	T	G41589242T	CASK	NM_003688.3(CASK):c.1233+273C>A	noncoding	Benign
X	41609934	G	A	G41609934A	CASK	NM_001367721.1(CASK):c.1125C>T:p.Phe375=	coding	Benign
X	41610031	G	A	G41610031A	CASK	NM_001367721.1(CASK):c.1034-6C>T	noncoding	Benign
X	41626603	C	G	C41626603G	CASK	NM_003688.3(CASK):c.1015+1G>C	noncoding	Pathogenic
X	41626704	C	T	C41626704T	CASK	NM_003688.3(CASK):c.916-1G>A	coding	Pathogenic
X	41636578	C	T	C41636578T	CASK	NM_003688.3(CASK):c.915G>A:p.Lys305=	coding	Pathogenic
X	41636613	G	A	G41636613A	CASK	NM_001367721.1(CASK):c.880C>T:p.Gln294Ter	coding	Pathogenic
X	41636647	G	C	G41636647C	CASK	NM_001367721.1(CASK):c.846C>G:p.Tyr282Ter	coding	Pathogenic
X	41636647	G	T	G41636647T	CASK	NM_003688.3(CASK):c.846C>A:p.Tyr282Ter	coding	Pathogenic
X	41660446	C	T	C41660446T	CASK	NM_003688.3(CASK):c.824G>A:p.Trp275Ter	coding	Pathogenic
X	41660468	A	G	A41660468G	CASK	NM_003688.3(CASK):c.802T>C:p.Tyr268His	coding	Pathogenic
X	41660507	G	A	G41660507A	CASK	NM_003688.3(CASK):c.763C>T:p.Arg255Cys	coding	Pathogenic
X	41660549	G	A	G41660549A	CASK	NM_003688.3(CASK):c.721C>T:p.Gln241Ter	coding	Pathogenic
X	41665276	C	T	C41665276T	CASK	NM_001367721.1(CASK):c.708+1G>A	noncoding	Pathogenic
X	41665325	G	C	G41665325C	CASK	NM_003688.3(CASK):c.660C>G:p.Tyr220Ter	coding	Pathogenic
X	41665359	A	G	A41665359G	CASK	NM_003688.3(CASK):c.626T>C:p.Leu209Pro	coding	Pathogenic/Likely_pathogenic
X	41665373	C	A	C41665373A	CASK	NM_003688.3(CASK):c.612G>T:p.Gly204=	coding	Benign
X	41665376	C	T	C41665376T	CASK	NM_003688.3(CASK):c.609G>A:p.Trp203Ter	coding	Pathogenic
X	41665454	T	C	T41665454C	CASK	NM_003688.3(CASK):c.533-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	41671528	G	A	G41671528A	CASK	NM_003688.3(CASK):c.432C>T:p.Pro144=	coding	Benign
X	41671532	T	A	T41671532A	CASK	NM_001367721.1(CASK):c.430-2A>T	noncoding	Pathogenic
X	41696517	A	G	A41696517G	GPR34	NM_001097579.2(GPR34):c.884A>G:p.Asn295Ser	coding	Benign/Likely_benign
X	41696521	A	G	A41696521G	GPR34	NM_001097579.2(GPR34):c.888A>G:p.Val296=	coding	Benign
X	41739383	C	T	C41739383T	CASK	NM_003688.3(CASK):c.429+1G>A	noncoding	Pathogenic
X	41739450	A	G	A41739450G	CASK	NM_001367721.1(CASK):c.363T>C:p.Tyr121=	coding	Benign
X	41745564	G	A	G41745564A	CASK	NM_001367721.1(CASK):c.316C>T:p.Arg106Ter	coding	Pathogenic
X	41745708	G	T	G41745708T	CASK	NM_003688.3(CASK):c.279-107C>A	noncoding	Benign
X	41787183	G	A	G41787183A	CASK	NM_003688.3(CASK):c.273C>T:p.Phe91=	coding	Benign
X	41853178	G	A	G41853178A	CASK	NM_003688.3(CASK):c.109C>T:p.Gln37Ter	coding	Pathogenic
X	41853204	C	A	C41853204A	CASK	NM_003688.3(CASK):c.83G>T:p.Arg28Leu	coding	Pathogenic
X	41853208	G	A	G41853208A	CASK	NM_001367721.1(CASK):c.79C>T:p.Arg27Ter	coding	Pathogenic
X	41922928	A	G	A41922928G	CASK	NM_003688.3(CASK):c.59+2T>C	noncoding	Pathogenic
X	41922952	C	A	C41922952A	CASK	NM_001367721.1(CASK):c.37G>T:p.Glu13Ter	coding	Pathogenic
X	41922988	T	A	T41922988A	CASK	NM_003688.3(CASK):c.1A>T:p.Met1Leu	coding	Pathogenic
X	43683572	C	T	C43683572T	MAOA	NM_000240.3(MAOA):c.133C>T:p.Arg45Trp	coding	Pathogenic
X	43711950	A	C	A43711950C	MAOA	NM_000240.3(MAOA):c.385A>C:p.Arg129=	coding	Benign
X	43728184	G	A	G43728184A	MAOA	NM_000240.3(MAOA):c.515G>A:p.Arg172Gln	coding	Benign
X	43731695	G	T	G43731695T	MAOA	NM_000240.3(MAOA):c.797G>T:p.Cys266Phe	coding	Pathogenic
X	43731714	G	A	G43731714A	MAOA	NM_000240.3(MAOA):c.816G>A:p.Ala272=	coding	Benign
X	43731784	C	T	C43731784T	MAOA	NM_000240.3(MAOA):c.886C>T:p.Gln296Ter	coding	Pathogenic
X	43731789	G	T	G43731789T	MAOA	NM_000240.3(MAOA):c.891G>T:p.Arg297=	coding	Benign
X	43743792	A	G	A43743792G	MAOA	NM_000240.3(MAOA):c.1263-2A>G	noncoding	Pathogenic
X	43744144	T	C	T43744144C	MAOA	NM_000240.3(MAOA):c.1410T>C:p.Asp470=	coding	Benign
X	43767586	A	G	A43767586G	MAOB	NM_000898.5(MAOB):c.1443T>C:p.Phe481=	coding	Benign
X	43768646	T	C	T43768646C	MAOB	NM_000898.5(MAOB):c.1410+8A>G	noncoding	Benign
X	43793510	T	C	T43793510C	MAOB	NM_000898.5(MAOB):c.837A>G:p.Pro279=	coding	Benign
X	43802246	T	C	T43802246C	MAOB	NM_000898.5(MAOB):c.402A>G:p.Pro134=	coding	Benign
X	43843727	C	A	C43843727A	MAOB	NM_000898.5(MAOB):c.84G>T:p.Leu28=	coding	Benign
X	43949789	G	C	G43949789C	NDP	NM_000266.4(NDP):c.*10C>G	noncoding	Benign
X	43949814	C	T	C43949814T	NDP	NM_000266.4(NDP):c.387G>A:p.Glu129=	coding	Benign
X	43949817	G	T	G43949817T	NDP	NM_000266.4(NDP):c.384C>A:p.Cys128Ter	coding	Pathogenic
X	43949831	G	A	G43949831A	NDP	NM_000266.4(NDP):c.370C>T:p.Leu124Phe	coding	Pathogenic
X	43949839	C	A	C43949839A	NDP	NM_000266.4(NDP):c.362G>T:p.Arg121Leu	coding	Pathogenic
X	43949873	A	C	A43949873C	NDP	NM_000266.4(NDP):c.328T>G:p.Cys110Gly	coding	Pathogenic
X	43949876	G	A	G43949876A	NDP	NM_000266.4(NDP):c.325C>T:p.Arg109Ter	coding	Pathogenic
X	43949888	C	T	C43949888T	NDP	NM_000266.4(NDP):c.313G>A:p.Ala105Thr	coding	Pathogenic
X	43949899	G	A	G43949899A	NDP	NM_000266.4(NDP):c.302C>T:p.Ser101Phe	coding	Pathogenic
X	43949913	G	C	G43949913C	NDP	NM_000266.4(NDP):c.288C>G:p.Cys96Trp	coding	Pathogenic
X	43949914	C	T	C43949914T	NDP	NM_000266.4(NDP):c.287G>A:p.Cys96Tyr	coding	Pathogenic
X	43949932	C	G	C43949932G	NDP	NM_000266.4(NDP):c.269G>C:p.Arg90Pro	coding	Pathogenic
X	43949977	G	C	G43949977C	NDP	NM_000266.4(NDP):c.224C>G:p.Ser75Cys	coding	Pathogenic
X	43949981	G	A	G43949981A	NDP	NM_000266.4(NDP):c.220C>T:p.Arg74Cys	coding	Pathogenic
X	43949983	G	T	G43949983T	NDP	NM_000266.4(NDP):c.218C>A:p.Ser73Ter	coding	Pathogenic
X	43949995	C	G	C43949995G	NDP	NM_000266.4(NDP):c.206G>C:p.Cys69Ser	coding	Pathogenic
X	43950020	G	A	G43950020A	NDP	NM_000266.4(NDP):c.181C>T:p.Leu61Phe	coding	Pathogenic
X	43950022	A	T	A43950022T	NDP	NM_000266.4(NDP):c.179T>A:p.Val60Glu	coding	Pathogenic
X	43958491	A	T	A43958491T	NDP	NM_000266.4(NDP):c.155T>A:p.Leu52Ter	coding	Pathogenic/Likely_pathogenic
X	43958512	A	T	A43958512T	NDP	NM_000266.4(NDP):c.134T>A:p.Val45Glu	coding	Pathogenic
X	43958515	T	C	T43958515C	NDP	NM_000266.4(NDP):c.131A>G:p.Tyr44Cys	coding	Pathogenic
X	43958534	G	A	G43958534A	NDP;NDP-AS1	NM_000266.4(NDP):c.112C>T:p.Arg38Cys	coding	Pathogenic
X	43958537	G	A	G43958537A	NDP	NM_000266.4(NDP):c.109C>T:p.Arg37Ter	coding	Pathogenic
X	43958577	G	C	G43958577C	NDP	NM_000266.4(NDP):c.69C>G:p.Asp23Glu	coding	Benign
X	43958608	A	C	A43958608C	NDP	NM_000266.4(NDP):c.38T>G:p.Leu13Arg	coding	Pathogenic
X	43958645	T	C	T43958645C	NDP	NM_000266.4(NDP):c.1A>G:p.Met1Val	coding	Pathogenic
X	44232582	C	G	C44232582G	EFHC2	NM_025184.4(EFHC2):c.1519G>C:p.Glu507Gln	coding	Benign
X	44312629	C	T	C44312629T	EFHC2	NM_025184.4(EFHC2):c.170G>A:p.Cys57Tyr	coding	Benign
X	44873639	G	A	G44873639A	KDM6A	NM_021140.3(KDM6A):c.88G>A:p.Ala30Thr	coding	Benign
X	44873691	A	G	A44873691G	KDM6A	NM_001291415.2(KDM6A):c.140A>G:p.Glu47Gly	coding	Pathogenic
X	44873702	G	T	G44873702T	KDM6A	NM_001291421.1(KDM6A):c.-482G>T	coding	Pathogenic
X	45010974	T	G	T45010974G	KDM6A	NM_021140.3(KDM6A):c.398T>G:p.Leu133Ter	coding	Pathogenic
X	45011024	G	C	G45011024C	KDM6A	NM_001291415.2(KDM6A):c.443+5G>C	noncoding	Pathogenic
X	45020603	C	T	C45020603T	KDM6A	NM_001291415.2(KDM6A):c.444-7C>T	noncoding	Benign
X	45020659	C	T	C45020659T	KDM6A	NM_001291415.2(KDM6A):c.493C>T:p.Arg165Ter	coding	Pathogenic
X	45020680	C	T	C45020680T	KDM6A	NM_001291415.2(KDM6A):c.514C>T:p.Arg172Ter	coding	Pathogenic
X	45020731	G	T	G45020731T	KDM6A	NM_001291415.2(KDM6A):c.564+1G>T	coding	Pathogenic
X	45034991	T	C	T45034991C	KDM6A	NM_001291415.2(KDM6A):c.619+6T>C	noncoding	Pathogenic
X	45037653	A	G	A45037653G	KDM6A	NM_001291415.2(KDM6A):c.620-2A>G	noncoding	Pathogenic
X	45053956	G	A	G45053956A	KDM6A	NM_001291415.2(KDM6A):c.875+1G>A	coding	Pathogenic
X	45059287	C	T	C45059287T	KDM6A	NM_021140.3(KDM6A):c.1015C>T:p.Gln339Ter	coding	Pathogenic
X	45059464	C	T	C45059464T	KDM6A	NM_001291415.2(KDM6A):c.1192C>T:p.Gln398Ter	coding	Pathogenic
X	45060111	C	T	C45060111T	KDM6A	NM_001291415.2(KDM6A):c.1284C>T:p.Pro428=	coding	Benign
X	45061396	T	C	T45061396C	KDM6A	NM_001291415.2(KDM6A):c.1558T>C:p.Cys520Arg	coding	Benign
X	45061417	C	T	C45061417T	KDM6A	NM_001291415.2(KDM6A):c.1579C>T:p.Gln527Ter	coding	Pathogenic
X	45062751	G	A	G45062751A	KDM6A	NM_021140.3(KDM6A):c.1527+3G>A	noncoding	Benign
X	45063449	C	T	C45063449T	KDM6A	NM_021140.3(KDM6A):c.1555C>T:p.Arg519Ter	coding	Pathogenic
X	45063550	C	T	C45063550T	KDM6A	NM_001291415.2(KDM6A):c.1812C>T:p.Ser604=	coding	Benign
X	45063635	A	G	A45063635G	KDM6A	NM_021140.3(KDM6A):c.1741A>G:p.Thr581Ala	coding	Benign
X	45063645	C	T	C45063645T	KDM6A	NM_021140.3(KDM6A):c.1751C>T:p.Thr584Met	coding	Benign/Likely_benign
X	45063728	C	T	C45063728T	KDM6A	NM_001291415.2(KDM6A):c.1990C>T:p.Arg664Ter	coding	Pathogenic
X	45063737	C	G	C45063737G	KDM6A	NM_021140.3(KDM6A):c.1843C>G:p.Leu615Val	coding	Benign/Likely_benign
X	45063818	G	T	G45063818T	KDM6A	NM_001291415.2(KDM6A):c.2079+1G>T	coding	Pathogenic
X	45069627	C	T	C45069627T	KDM6A	NM_021140.3(KDM6A):c.1972C>T:p.Arg658Ter	coding	Pathogenic
X	45069729	C	T	C45069729T	KDM6A	NM_001291415.2(KDM6A):c.2230C>T:p.Gln744Ter	coding	Pathogenic
X	45069832	C	A	C45069832A	KDM6A	NM_001291415.2(KDM6A):c.2333C>A:p.Thr778Lys	coding	Benign
X	45069832	C	T	C45069832T	KDM6A	NM_021140.3(KDM6A):c.2177C>T:p.Thr726Met	coding	Benign/Likely_benign
X	45069887	C	T	C45069887T	KDM6A	NM_021140.3(KDM6A):c.2232C>T:p.Val744=	coding	Benign
X	45076692	T	C	T45076692C	KDM6A	NM_001291415.2(KDM6A):c.2859-5T>C	noncoding	Benign
X	45076827	G	A	G45076827A	KDM6A	NM_021140.3(KDM6A):c.2832+1G>A	coding	Pathogenic
X	45076827	G	C	G45076827C	KDM6A	NM_001291415.1(KDM6A):c.2988+1G>C	coding	Pathogenic
X	45079213	A	G	A45079213G	KDM6A	NM_001291415.2(KDM6A):c.3162A>G:p.Thr1054=	coding	Benign
X	45079223	C	T	C45079223T	KDM6A	NM_021140.3(KDM6A):c.3016C>T:p.Gln1006Ter	coding	Pathogenic
X	45079318	G	A	G45079318A	KDM6A	NM_021140.3(KDM6A):c.3111G>A:p.Gln1037=	coding	Benign
X	45082610	A	T	A45082610T	KDM6A	NM_021140.3(KDM6A):c.3179A>T:p.His1060Leu	coding	Benign
X	45089872	T	C	T45089872C	KDM6A	NM_021140.3(KDM6A):c.3678T>C:p.His1226=	coding	Benign/Likely_benign
X	45089908	T	C	T45089908C	KDM6A	NM_021140.3(KDM6A):c.3714T>C:p.Ala1238=	coding	Benign
X	45089911	G	A	G45089911A	KDM6A	NM_021140.3(KDM6A):c.3717G>A:p.Trp1239Ter	coding	Pathogenic
X	45090749	C	T	C45090749T	KDM6A	NM_021140.3(KDM6A):c.3763C>T:p.Arg1255Trp	coding	Pathogenic
X	45090783	C	A	C45090783A	KDM6A	NM_021140.3(KDM6A):c.3797C>A:p.Ser1266Ter	coding	Pathogenic
X	45107435	C	T	C45107435T	KDM6A	NM_021140.3(KDM6A):c.3904C>T:p.Gln1302Ter	coding	Pathogenic
X	45107550	T	C	T45107550C	KDM6A	NM_021140.3(KDM6A):c.4005+14T>C	noncoding	Benign
X	45110124	C	T	C45110124T	KDM6A	NM_021140.3(KDM6A):c.4051C>T:p.Arg1351Ter	coding	Pathogenic
X	45151862	C	T	C45151862T	DIPK2B	NM_176819.4(DIPK2B):c.1092G>A:p.Lys364=	coding	Benign
X	45191851	G	T	G45191851T	DIPK2B	NM_176819.4(DIPK2B):c.398C>A:p.Ala133Glu	coding	Benign
X	45200617	C	G	C45200617G	DIPK2B	NM_176819.4(DIPK2B):c.210G>C:p.Lys70Asn	coding	Benign
X	46497723	T	G	T46497723G	ZNF674	NM_001039891.2(ZNF674):c.*2120A>C	noncoding	Benign
X	46500294	T	C	T46500294C	ZNF674	NM_001039891.3(ZNF674):c.1295A>G:p.His432Arg	coding	Benign
X	46500372	A	G	A46500372G	ZNF674	NM_001039891.3(ZNF674):c.1217T>C:p.Ile406Thr	coding	Benign
X	46500464	A	C	A46500464C	ZNF674	NM_001039891.3(ZNF674):c.1125T>G:p.His375Gln	coding	Benign
X	46500561	G	A	G46500561A	ZNF674	NM_001039891.3(ZNF674):c.1028C>T:p.Thr343Met	coding	Benign
X	46500690	C	T	C46500690T	ZNF674	NM_001039891.3(ZNF674):c.899G>A:p.Arg300Gln	coding	Benign
X	46574585	C	T	C46574585T	CHST7	NM_019886.4(CHST7):c.654C>T:p.Gly218=	coding	Benign
X	46574729	T	C	T46574729C	CHST7	NM_019886.4(CHST7):c.798T>C:p.Asp266=	coding	Benign
X	46621057	G	A	G46621057A	SLC9A7	NM_001257291.2(SLC9A7):c.1743C>T:p.Asp581=	coding	Benign
X	46837102	T	C	T46837102C	RP2	NM_006915.3(RP2):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
X	46837172	A	C	A46837172C	RP2	NM_006915.3(RP2):c.72A>C:p.Pro24=	coding	Benign
X	46837176	C	T	C46837176T	RP2	NM_006915.3(RP2):c.76C>T:p.Gln26Ter	coding	Pathogenic
X	46837203	G	T	G46837203T	RP2	NM_006915.3(RP2):c.102+1G>T	coding	Pathogenic
X	46837205	A	C	A46837205C	RP2	NM_006915.3(RP2):c.102+3A>C	noncoding	Pathogenic
X	46853569	G	A	G46853569A	RP2	NM_006915.3(RP2):c.196G>A:p.Asp66Asn	coding	Benign
X	46853633	C	T	C46853633T	RP2	NM_006915.3(RP2):c.260C>T:p.Thr87Ile	coding	Benign/Likely_benign
X	46853725	C	T	C46853725T	RP2	NM_006915.3(RP2):c.352C>T:p.Arg118Cys	coding	Pathogenic
X	46853726	G	A	G46853726A	RP2	NM_006915.3(RP2):c.353G>A:p.Arg118His	coding	Pathogenic
X	46853726	G	T	G46853726T	RP2	NM_006915.3(RP2):c.353G>T:p.Arg118Leu	coding	Pathogenic
X	46853731	C	T	C46853731T	RP2	NM_006915.3(RP2):c.358C>T:p.Arg120Ter	coding	Pathogenic
X	46853738	G	A	G46853738A	RP2	NM_006915.3(RP2):c.365G>A:p.Cys122Tyr	coding	Pathogenic/Likely_pathogenic
X	46853773	C	T	C46853773T	RP2	NM_006915.3(RP2):c.400C>T:p.Gln134Ter	coding	Pathogenic
X	46853811	A	G	A46853811G	RP2	NM_006915.3(RP2):c.438A>G:p.Gly146=	coding	Benign
X	46853826	C	G	C46853826G	RP2	NM_006915.3(RP2):c.453C>G:p.Tyr151Ter	coding	Pathogenic
X	46853974	A	G	A46853974G	RP2	NM_006915.3(RP2):c.601A>G:p.Ile201Val	coding	Benign
X	46853979	T	C	T46853979C	RP2	NM_006915.3(RP2):c.606T>C:p.Pro202=	coding	Benign
X	46854124	A	G	A46854124G	RP2	NM_006915.3(RP2):c.751A>G:p.Arg251Gly	coding	Benign
X	46860063	C	T	C46860063T	RP2	NM_006915.3(RP2):c.844C>T:p.Arg282Trp	coding	Benign/Likely_benign
X	46877504	G	A	G46877504A	RP2	NM_006915.3(RP2):c.884-1G>A	noncoding	Pathogenic
X	46877516	G	A	G46877516A	RP2	NM_006915.3(RP2):c.895G>A:p.Ala299Thr	coding	Benign
X	46877522	G	T	G46877522T	RP2	NM_006915.3(RP2):c.901G>T:p.Glu301Ter	coding	Pathogenic
X	46877570	G	A	G46877570A	RP2	NM_006915.3(RP2):c.949G>A:p.Glu317Lys	coding	Benign
X	46877580	A	G	A46877580G	RP2	NM_006915.3(RP2):c.959A>G:p.Asn320Ser	coding	Benign
X	46879717	C	A	C46879717A	RP2	NM_006915.3(RP2):c.1001C>A:p.Ser334Tyr	coding	Benign
X	46880204	C	T	C46880204T	RP2	NM_006915.3(RP2):c.*435C>T	noncoding	Benign
X	46880597	G	A	G46880597A	RP2	NM_006915.3(RP2):c.*828G>A	noncoding	Benign
X	46880673	A	G	A46880673G	RP2	NM_006915.3(RP2):c.*904A>G	noncoding	Benign
X	46880727	A	C	A46880727C	RP2	NM_006915.3(RP2):c.*958A>C	noncoding	Benign
X	46881854	T	C	T46881854C	RP2	NM_006915.3(RP2):c.*2085T>C	noncoding	Benign
X	46881925	A	G	A46881925G	RP2	NM_006915.3(RP2):c.*2156A>G	noncoding	Benign
X	46881932	T	C	T46881932C	RP2	NM_006915.3(RP2):c.*2163T>C	noncoding	Benign
X	47084555	C	T	C47084555T	RGN	NM_152869.4(RGN):c.301C>T:p.Arg101Cys	coding	Benign
X	47084610	C	T	C47084610T	RGN	NM_152869.4(RGN):c.346+10C>T	noncoding	Benign
X	47142418	C	T	C47142418T	NDUFB11	NM_019056.6(NDUFB11):c.391G>A:p.Glu131Lys	coding	Pathogenic
X	47142592	C	T	C47142592T	NDUFB11	NM_019056.6(NDUFB11):c.360G>A:p.Ala120=	coding	Benign
X	47142669	C	T	C47142669T	NDUFB11	NM_019056.6(NDUFB11):c.283G>A:p.Val95Ile	coding	Benign
X	47142690	G	A	G47142690A	NDUFB11	NM_019056.6(NDUFB11):c.262C>T:p.Arg88Ter	coding	Pathogenic
X	47142697	C	G	C47142697G	NDUFB11	NM_019056.6(NDUFB11):c.255G>C:p.Trp85Cys	coding	Benign
X	47142702	C	T	C47142702T	NDUFB11	NM_019056.6(NDUFB11):c.250G>A:p.Val84Ile	coding	Benign
X	47173143	C	T	C47173143T	RBM10	NM_005676.5(RBM10):c.448C>T:p.Gln150Ter	coding	Pathogenic
X	47179165	T	C	T47179165C	RBM10	NM_005676.5(RBM10):c.724+2T>C	noncoding	Pathogenic
X	47180488	C	G	C47180488G	RBM10	NM_005676.5(RBM10):c.1230C>G:p.Ala410=	coding	Benign
X	47180493	G	A	G47180493A	RBM10	NM_005676.5(RBM10):c.1235G>A:p.Trp412Ter	coding	Pathogenic
X	47181214	G	A	G47181214A	RBM10	NM_005676.5(RBM10):c.1249-1G>A	noncoding	Pathogenic
X	47181235	T	C	T47181235C	RBM10	NM_005676.5(RBM10):c.1269T>C:p.Gly423=	coding	Benign
X	47181607	C	T	C47181607T	RBM10	NM_005676.5(RBM10):c.1536C>T:p.Ala512=	coding	Benign
X	47182015	C	T	C47182015T	RBM10	NM_005676.5(RBM10):c.1758C>T:p.Thr586=	coding	Benign
X	47185307	A	G	A47185307G	RBM10	NM_005676.5(RBM10):c.2106A>G:p.Ala702=	coding	Benign
X	47198841	C	T	C47198841T	UBA1	NM_003334.4(UBA1):c.39C>T:p.Ser13=	coding	Benign
X	47198928	C	T	C47198928T	UBA1	NM_003334.4(UBA1):c.117+9C>T	noncoding	Benign/Likely_benign
X	47199051	A	C	A47199051C	UBA1	NM_003334.4(UBA1):c.121A>C:p.Met41Leu	coding	Pathogenic
X	47199062	C	T	C47199062T	UBA1	NM_003334.4(UBA1):c.132C>T:p.Asn44=	coding	Benign/Likely_benign
X	47199238	G	A	G47199238A	UBA1	NM_003334.4(UBA1):c.206G>A:p.Arg69Gln	coding	Benign/Likely_benign
X	47199242	C	T	C47199242T	UBA1	NM_003334.4(UBA1):c.210C>T:p.Leu70=	coding	Benign
X	47199477	C	A	C47199477A	UBA1	NM_003334.4(UBA1):c.346-3C>A	noncoding	Benign
X	47199485	C	T	C47199485T	UBA1	NM_003334.4(UBA1):c.351C>T:p.Tyr117=	coding	Benign
X	47199522	G	C	G47199522C	UBA1	NM_003334.4(UBA1):c.388G>C:p.Val130Leu	coding	Benign
X	47199564	G	A	G47199564A	UBA1	NM_003334.4(UBA1):c.430G>A:p.Val144Ile	coding	Benign
X	47199576	A	G	A47199576G	UBA1	NM_003334.4(UBA1):c.442A>G:p.Thr148Ala	coding	Benign
X	47200899	G	A	G47200899A	UBA1	NM_003334.4(UBA1):c.486G>A:p.Val162=	coding	Benign
X	47201336	A	G	A47201336G	UBA1	NM_003334.4(UBA1):c.648A>G:p.Pro216=	coding	Benign
X	47201445	C	G	C47201445G	UBA1	NM_003334.4(UBA1):c.679-33C>G	noncoding	Benign
X	47201519	C	T	C47201519T	UBA1	NM_003334.4(UBA1):c.720C>T:p.His240=	coding	Benign
X	47201597	G	A	G47201597A	UBA1	NM_003334.4(UBA1):c.798G>A:p.Glu266=	coding	Benign
X	47201619	C	G	C47201619G	UBA1	NM_003334.4(UBA1):c.811+9C>G	noncoding	Benign
X	47201822	A	G	A47201822G	UBA1	NM_003334.4(UBA1):c.811+212A>G	noncoding	Benign
X	47202265	G	A	G47202265A	UBA1	NM_003334.4(UBA1):c.909+12G>A	noncoding	Benign
X	47202413	A	G	A47202413G	UBA1	NM_003334.4(UBA1):c.965A>G:p.Lys322Arg	coding	Benign
X	47202718	C	T	C47202718T	UBA1	NM_003334.4(UBA1):c.1137C>T:p.Asp379=	coding	Benign/Likely_benign
X	47202730	C	T	C47202730T	UBA1	NM_003334.4(UBA1):c.1149C>T:p.Ile383=	coding	Benign
X	47202754	T	C	T47202754C	UBA1	NM_003334.4(UBA1):c.1173T>C:p.Ala391=	coding	Benign
X	47202778	C	T	C47202778T	UBA1	NM_003334.4(UBA1):c.1197C>T:p.Ala399=	coding	Benign
X	47202857	T	G	T47202857G	UBA1	NM_003334.4(UBA1):c.1233+43T>G	noncoding	Benign
X	47202951	C	T	C47202951T	UBA1	NM_003334.4(UBA1):c.1242C>T:p.Ser414=	coding	Benign/Likely_benign
X	47202952	G	A	G47202952A	UBA1	NM_003334.4(UBA1):c.1243G>A:p.Gly415Arg	coding	Benign
X	47203005	C	T	C47203005T	UBA1	NM_003334.4(UBA1):c.1296C>T:p.Leu432=	coding	Benign/Likely_benign
X	47203134	C	T	C47203134T	UBA1	NM_003334.4(UBA1):c.1339C>T:p.Arg447Cys	coding	Benign
X	47203135	G	A	G47203135A	UBA1	NM_003334.4(UBA1):c.1340G>A:p.Arg447His	coding	Benign
X	47203603	C	T	C47203603T	UBA1	NM_003334.4(UBA1):c.1482C>T:p.Cys494=	coding	Benign
X	47203664	C	A	C47203664A	UBA1	NM_003334.4(UBA1):c.1543C>A:p.Arg515=	coding	Benign
X	47205989	G	T	G47205989T	UBA1	NM_003334.4(UBA1):c.1617G>T:p.Met539Ile	coding	Pathogenic
X	47206011	A	G	A47206011G	UBA1	NM_003334.4(UBA1):c.1639A>G:p.Ser547Gly	coding	Pathogenic
X	47206074	C	G	C47206074G	UBA1	NM_003334.4(UBA1):c.1702C>G:p.Leu568Val	coding	Benign
X	47206103	C	T	C47206103T	UBA1	NM_003334.4(UBA1):c.1731C>T:p.Asn577=	coding	Pathogenic
X	47206190	C	T	C47206190T	UBA1	NM_003334.4(UBA1):c.1742-58C>T	noncoding	Benign
X	47206230	G	A	G47206230A	UBA1	NM_003334.4(UBA1):c.1742-18G>A	noncoding	Benign
X	47206237	G	C	G47206237C	UBA1	NM_003334.4(UBA1):c.1742-11G>C	noncoding	Benign
X	47206297	G	A	G47206297A	UBA1	NM_003334.4(UBA1):c.1791G>A:p.Glu597=	coding	Benign/Likely_benign
X	47206504	G	A	G47206504A	UBA1	NM_003334.4(UBA1):c.1938+60G>A	noncoding	Benign
X	47209889	C	G	C47209889G	UBA1	NM_003334.4(UBA1):c.2004-39C>G	noncoding	Benign
X	47210862	G	A	G47210862A	UBA1	NM_003334.4(UBA1):c.2220G>A:p.Pro740=	coding	Benign
X	47211029	C	T	C47211029T	UBA1	NM_003334.4(UBA1):c.2275-7C>T	noncoding	Benign
X	47211069	A	C	A47211069C	UBA1	NM_003334.4(UBA1):c.2308A>C:p.Asn770His	coding	Benign
X	47211089	C	T	C47211089T	UBA1	NM_003334.4(UBA1):c.2328C>T:p.Tyr776=	coding	Benign
X	47211112	G	A	G47211112A	UBA1	NM_003334.4(UBA1):c.2351G>A:p.Arg784Gln	coding	Benign
X	47211125	C	T	C47211125T	UBA1	NM_003334.4(UBA1):c.2364C>T:p.Ala788=	coding	Benign
X	47211129	T	C	T47211129C	UBA1	NM_003334.4(UBA1):c.2368T>C:p.Phe790Leu	coding	Benign
X	47211137	G	A	G47211137A	UBA1	NM_003334.4(UBA1):c.2376G>A:p.Gln792=	coding	Benign
X	47212812	A	G	A47212812G	UBA1	NM_003334.4(UBA1):c.2595A>G:p.Ala865=	coding	Benign
X	47212874	T	C	T47212874C	UBA1	NM_003334.4(UBA1):c.2646+11T>C	noncoding	Benign
X	47213004	A	G	A47213004G	UBA1	NM_003334.4(UBA1):c.2661A>G:p.Ala887=	coding	Benign
X	47213291	C	T	C47213291T	UBA1	NM_003334.4(UBA1):c.2838+110C>T	noncoding	Benign
X	47214252	A	G	A47214252G	UBA1	NM_003334.4(UBA1):c.2839-75A>G	noncoding	Benign
X	47214320	C	T	C47214320T	UBA1	NM_003334.4(UBA1):c.2839-7C>T	noncoding	Benign
X	47214416	C	T	C47214416T	UBA1	NM_003334.4(UBA1):c.2928C>T:p.Leu976=	coding	Benign
X	47214417	G	A	G47214417A	UBA1	NM_003334.4(UBA1):c.2929G>A:p.Asp977Asn	coding	Benign
X	47214575	C	T	C47214575T	UBA1	NM_003334.4(UBA1):c.2979C>T:p.Gly993=	coding	Benign
X	47214578	G	T	G47214578T	UBA1	NM_003334.4(UBA1):c.2982G>T:p.Val994=	coding	Benign
X	47214820	C	T	C47214820T	UBA1	NM_003334.4(UBA1):c.3068C>T:p.Ser1023Leu	coding	Benign
X	47214875	C	T	C47214875T	UBA1	NM_003334.4(UBA1):c.3123C>T:p.Asn1041=	coding	Benign/Likely_benign
X	47223217	C	G	C47223217G	CDK16	NM_006201.5(CDK16):c.-6-335C>G	coding	Benign
X	47223273	C	T	C47223273T	CDK16	NM_006201.5(CDK16):c.-6-279C>T	coding	Benign
X	47224750	A	T	A47224750T	CDK16	NM_006201.5(CDK16):c.462+7A>T	noncoding	Benign
X	47226274	C	T	C47226274T	CDK16	NM_006201.5(CDK16):c.793-5C>T	noncoding	Benign
X	47228557	C	T	C47228557T	CDK16	NM_006201.5(CDK16):c.1376-10C>T	noncoding	Benign
X	47239175	T	C	T47239175C	USP11	NM_001371072.1(USP11):c.282T>C:p.Phe94=	coding	Benign
X	47239825	G	A	G47239825A	USP11	NM_001371072.1(USP11):c.453G>A:p.Val151=	coding	Benign
X	47242288	G	A	G47242288A	USP11	NM_001371072.1(USP11):c.1386G>A:p.Pro462=	coding	Benign
X	47244777	G	A	G47244777A	USP11	NM_001371072.1(USP11):c.1939G>A:p.Val647Ile	coding	Benign
X	47247316	C	T	C47247316T	USP11	NM_001371072.1(USP11):c.2433C>T:p.Phe811=	coding	Benign
X	47247364	C	T	C47247364T	USP11	NM_001371072.1(USP11):c.2481C>T:p.Tyr827=	coding	Benign
X	47247645	G	A	G47247645A	USP11	NM_001371072.1(USP11):c.2571G>A:p.Gln857=	coding	Benign
X	47247672	C	A	C47247672A	USP11	NM_001371072.1(USP11):c.2598C>A:p.Val866=	coding	Benign
X	47247837	G	A	G47247837A	USP11	NM_001371072.1(USP11):c.2670G>A:p.Ala890=	coding	Benign
X	47410281	C	T	C47410281T	ZNF157	NM_003446.4(ZNF157):c.78C>T:p.Ser26=	coding	Benign
X	47412997	G	A	G47412997A	ZNF157	NM_003446.4(ZNF157):c.924G>A:p.Gly308=	coding	Benign
X	47413081	G	A	G47413081A	ZNF157	NM_003446.4(ZNF157):c.1008G>A:p.Gly336=	coding	Benign
X	47413231	C	T	C47413231T	ZNF157	NM_003446.4(ZNF157):c.1158C>T:p.Tyr386=	coding	Benign
X	47413571	A	G	A47413571G	ZNF157	NM_003446.4(ZNF157):c.1498A>G:p.Thr500Ala	coding	Benign
X	47447773	G	A	G47447773A	ZNF41	NM_153380.3(ZNF41):c.1997C>T:p.Ala666Val	coding	Benign
X	47448192	A	T	A47448192T	ZNF41	NM_153380.3(ZNF41):c.1578T>A:p.Ala526=	coding	Benign
X	47448825	A	C	A47448825C	ZNF41	NM_153380.3(ZNF41):c.945T>G:p.Asp315Glu	coding	Benign
X	47448869	A	G	A47448869G	ZNF41	NM_153380.3(ZNF41):c.901T>C:p.Cys301Arg	coding	Benign
X	47448984	C	T	C47448984T	ZNF41	NM_153380.3(ZNF41):c.786G>A:p.Gln262=	coding	Benign
X	47449093	T	A	T47449093A	ZNF41	NM_007130.3(ZNF41):c.677A>T:p.His226Leu	coding	Benign
X	47449110	A	C	A47449110C	ZNF41	NM_153380.3(ZNF41):c.660T>G:p.Asn220Lys	coding	Benign
X	47449180	T	C	T47449180C	ZNF41	NM_153380.3(ZNF41):c.590A>G:p.Lys197Arg	coding	Benign
X	47449383	T	C	T47449383C	ZNF41	NM_153380.3(ZNF41):c.387A>G:p.Ser129=	coding	Benign
X	47449396	A	C	A47449396C	ZNF41	NM_153380.3(ZNF41):c.374T>G:p.Ile125Arg	coding	Benign
X	47567358	C	T	C47567358T	ARAF	NM_001654.5(ARAF):c.1002C>T:p.Ala334=	coding	Benign
X	47569651	G	A	G47569651A	ARAF	NM_001654.5(ARAF):c.1413G>A:p.Leu471=	coding	Benign
X	47571370	G	C	G47571370C	ARAF	NM_001654.5(ARAF):c.1734G>C:p.Glu578Asp	coding	Benign
X	47574016	C	T	C47574016T	SYN1	NM_006950.3(SYN1):c.1968G>A:p.Pro656=	coding	Benign/Likely_benign
X	47574321	G	A	G47574321A	SYN1	NM_006950.3(SYN1):c.1663C>T:p.Gln555Ter	coding	Pathogenic
X	47574336	C	T	C47574336T	SYN1	NM_006950.3(SYN1):c.1648G>A:p.Ala550Thr	coding	Pathogenic
X	47574468	G	A	G47574468A	SYN1	NM_006950.3(SYN1):c.1516C>T:p.Gln506Ter	coding	Pathogenic
X	47574537	G	A	G47574537A	SYN1	NM_006950.3(SYN1):c.1447C>T:p.Gln483Ter	coding	Pathogenic
X	47575169	G	A	G47575169A	SYN1	NM_006950.3(SYN1):c.1264C>T:p.Arg422Ter	coding	Pathogenic
X	47576179	G	A	G47576179A	SYN1	NM_006950.3(SYN1):c.1110C>T:p.Cys370=	coding	Benign/Likely_benign
X	47576222	C	T	C47576222T	SYN1	NM_006950.3(SYN1):c.1067G>A:p.Trp356Ter	coding	Pathogenic
X	47576320	C	T	C47576320T	SYN1	NM_006950.3(SYN1):c.1055+12G>A	noncoding	Benign
X	47576361	C	T	C47576361T	SYN1	NM_006950.3(SYN1):c.1026G>A:p.Ala342=	coding	Benign/Likely_benign
X	47576425	G	A	G47576425A	SYN1	NM_006950.3(SYN1):c.981-19C>T	noncoding	Benign
X	47576484	G	A	G47576484A	SYN1	NM_006950.3(SYN1):c.980+14C>T	noncoding	Benign
X	47576566	G	A	G47576566A	SYN1	NM_006950.3(SYN1):c.912C>T:p.Ala304=	coding	Benign
X	47576648	A	C	A47576648C	SYN1	NM_006950.3(SYN1):c.838-8T>G	noncoding	Benign
X	47586642	G	A	G47586642A	TIMP1	NM_003254.3(TIMP1):c.575G>A:p.Arg192Gln	coding	Benign
X	47605398	G	A	G47605398A	SYN1	NM_006950.3(SYN1):c.528-19C>T	noncoding	Benign
X	47606962	A	G	A47606962G	SYN1	NM_006950.3(SYN1):c.510T>C:p.Asn170=	coding	Benign
X	47607131	C	T	C47607131T	SYN1	NM_006950.3(SYN1):c.435+10G>A	noncoding	Benign
X	47607150	T	C	T47607150C	SYN1	NM_006950.3(SYN1):c.426A>G:p.Lys142=	coding	Benign/Likely_benign
X	47619352	C	T	C47619352T	SYN1	NM_006950.3(SYN1):c.377G>A:p.Trp126Ter	coding	Pathogenic
X	47619577	G	C	G47619577C	SYN1	NM_006950.3(SYN1):c.152C>G:p.Ala51Gly	coding	Benign
X	47624401	G	A	G47624401A	CFP	NM_001145252.3(CFP):c.1284C>T:p.Asn428=	coding	Benign
X	47626062	A	C	A47626062C	CFP	NM_001145252.3(CFP):c.1240T>G:p.Tyr414Asp	coding	Pathogenic
X	47626499	A	C	A47626499C	CFP	NM_001145252.3(CFP):c.961T>G:p.Trp321Gly	coding	Pathogenic
X	47626818	C	T	C47626818T	CFP	NM_001145252.3(CFP):c.895G>A:p.Asp299Asn	coding	Benign
X	47626820	C	A	C47626820A	CFP	NM_001145252.3(CFP):c.893G>T:p.Gly298Val	coding	Pathogenic
X	47627159	C	T	C47627159T	CFP	NM_001145252.3(CFP):c.748G>A:p.Gly250Ser	coding	Benign
X	47627244	G	A	G47627244A	CFP	NM_001145252.3(CFP):c.663C>T:p.Ser221=	coding	Benign
X	47627290	G	C	G47627290C	CFP	NM_001145252.3(CFP):c.617C>G:p.Ser206Ter	coding	Pathogenic
X	47627296	G	A	G47627296A	CFP	NM_001145252.3(CFP):c.611C>T:p.Pro204Leu	coding	Benign
X	47627564	G	A	G47627564A	CFP	NM_001145252.3(CFP):c.481C>T:p.Arg161Ter	coding	Pathogenic
X	47628207	G	A	G47628207A	CFP	NM_001145252.3(CFP):c.298C>T:p.Arg100Trp	coding	Pathogenic
X	47628269	C	T	C47628269T	CFP	NM_001145252.3(CFP):c.236G>A:p.Arg79Gln	coding	Benign
X	47629594	C	T	C47629594T	CFP	NM_001145252.3(CFP):c.157G>A:p.Val53Met	coding	Benign
X	47636862	G	A	G47636862A	ELK1	NM_001114123.2(ELK1):c.1254C>T:p.Pro418=	coding	Benign
X	47637043	C	T	C47637043T	ELK1	NM_001114123.2(ELK1):c.1158G>A:p.Ala386=	coding	Benign
X	47638165	G	T	G47638165T	ELK1	NM_001114123.2(ELK1):c.672C>A:p.Pro224=	coding	Benign
X	47639035	G	C	G47639035C	ELK1	NM_001114123.2(ELK1):c.514C>G:p.Pro172Ala	coding	Benign
X	47639119	C	T	C47639119T	ELK1	NM_001114123.2(ELK1):c.430G>A:p.Gly144Ser	coding	Benign
X	47846275	C	T	C47846275T	ZNF81	NM_007137.3(ZNF81):c.8C>T:p.Ala3Val	coding	Benign
X	47846285	C	T	C47846285T	ZNF81	NM_007137.3(ZNF81):c.18C>T:p.Asp6=	coding	Benign
X	47888133	C	T	C47888133T	ZNF81	NM_007137.3(ZNF81):c.181+8C>T	noncoding	Benign
X	47914996	G	T	G47914996T	ZNF81	NM_007137.3(ZNF81):c.350G>T:p.Gly117Val	coding	Benign
X	47915063	A	G	A47915063G	ZNF81	NM_007137.3(ZNF81):c.417A>G:p.Ile139Met	coding	Benign
X	47915200	C	T	C47915200T	ZNF81	NM_007137.3(ZNF81):c.554C>T:p.Ser185Leu	coding	Benign
X	47915284	C	A	C47915284A	ZNF81	NM_007137.3(ZNF81):c.638C>A:p.Ala213Glu	coding	Benign
X	47916141	A	G	A47916141G	ZNF81	NM_007137.3(ZNF81):c.1495A>G:p.Ile499Val	coding	Benign/Likely_benign
X	47916557	G	A	G47916557A	ZNF81	NM_007137.3(ZNF81):c.1911G>A:p.Pro637=	coding	Benign
X	48459000	A	G	A48459000G	SLC38A5	NM_033518.4(SLC38A5):c.1352T>C:p.Met451Thr	coding	Benign
X	48478081	T	A	T48478081A	FTSJ1	NM_012280.4(FTSJ1):c.34T>A:p.Tyr12Asn	coding	Pathogenic
X	48478517	G	A	G48478517A	FTSJ1	NM_012280.4(FTSJ1):c.190G>A:p.Gly64Arg	coding	Benign
X	48478615	A	G	A48478615G	FTSJ1	NM_012280.4(FTSJ1):c.192-2A>G	noncoding	Pathogenic
X	48478621	C	T	C48478621T	FTSJ1	NM_012280.4(FTSJ1):c.196C>T:p.Gln66Ter	coding	Pathogenic
X	48478695	G	T	G48478695T	FTSJ1	NM_012280.4(FTSJ1):c.270G>T:p.Gly90=	coding	Benign
X	48479058	C	T	C48479058T	FTSJ1	NM_012280.4(FTSJ1):c.303C>T:p.Ile101=	coding	Benign
X	48479059	A	T	A48479059T	FTSJ1	NM_012280.4(FTSJ1):c.304A>T:p.Ile102Phe	coding	Benign
X	48479062	C	G	C48479062G	FTSJ1	NM_012280.4(FTSJ1):c.307C>G:p.Gln103Glu	coding	Benign/Likely_benign
X	48481149	A	T	A48481149T	FTSJ1	NM_012280.4(FTSJ1):c.362-2A>T	noncoding	Pathogenic
X	48481198	C	T	C48481198T	FTSJ1	NM_012280.4(FTSJ1):c.409C>T:p.Leu137=	coding	Benign
X	48481452	C	T	C48481452T	FTSJ1	NM_012280.4(FTSJ1):c.495C>T:p.Leu165=	coding	Benign
X	48481624	C	T	C48481624T	FTSJ1	NM_012280.4(FTSJ1):c.572-8C>T	noncoding	Benign
X	48481714	C	T	C48481714T	FTSJ1	NM_012280.4(FTSJ1):c.654C>T:p.Tyr218=	coding	Benign
X	48482485	G	A	G48482485A	FTSJ1	NM_012280.4(FTSJ1):c.738G>A:p.Ser246=	coding	Benign/Likely_benign
X	48482709	G	A	G48482709A	FTSJ1	NM_012280.4(FTSJ1):c.872G>A:p.Arg291His	coding	Benign
X	48482730	G	A	G48482730A	FTSJ1	NM_012280.4(FTSJ1):c.893G>A:p.Ser298Asn	coding	Benign
X	48509902	C	T	C48509902T	PORCN	NM_203475.3(PORCN):c.82C>T:p.Gln28Ter	coding	Pathogenic
X	48511336	G	A	G48511336A	PORCN	NM_203475.3(PORCN):c.178G>A:p.Gly60Arg	coding	Pathogenic
X	48511380	G	A	G48511380A	PORCN	NM_203475.3(PORCN):c.222G>A:p.Trp74Ter	coding	Pathogenic
X	48511426	C	T	C48511426T	PORCN	NM_203475.3(PORCN):c.268C>T:p.Arg90Ter	coding	Pathogenic
X	48511441	C	T	C48511441T	PORCN	NM_203475.3(PORCN):c.283C>T:p.Arg95Ter	coding	Pathogenic
X	48511459	G	A	G48511459A	PORCN	NM_203475.3(PORCN):c.301G>A:p.Val101Ile	coding	Benign
X	48511932	C	T	C48511932T	PORCN	NM_203475.3(PORCN):c.370C>T:p.Arg124Ter	coding	Pathogenic
X	48512659	G	C	G48512659C	PORCN	NM_203475.3(PORCN):c.626G>C:p.Cys209Ser	coding	Pathogenic
X	48512666	C	T	C48512666T	PORCN	NM_203475.3(PORCN):c.633C>T:p.Gly211=	coding	Benign
X	48514238	A	C	A48514238C	PORCN	NM_203473.3(PORCN):c.705-2A>C	noncoding	Pathogenic
X	48514314	C	T	C48514314T	PORCN	NM_203475.3(PORCN):c.794C>T:p.Thr265Met	coding	Benign
X	48514551	A	C	A48514551C	PORCN	NM_203475.3(PORCN):c.872A>C:p.Asn291Thr	coding	Benign
X	48514609	T	G	T48514609G	PORCN	NM_203473.3(PORCN):c.915T>G:p.Ser305=	coding	Benign
X	48515730	T	C	T48515730C	PORCN	NM_203475.3(PORCN):c.960T>C:p.Asn320=	coding	Benign
X	48515795	T	A	T48515795A	PORCN	NM_203475.3(PORCN):c.1023+2T>A	noncoding	Pathogenic
X	48516082	G	A	G48516082A	PORCN	NM_203475.3(PORCN):c.1109G>A:p.Arg370Gln	coding	Pathogenic
X	48516131	G	A	G48516131A	PORCN	NM_203475.3(PORCN):c.1158G>A:p.Ser386=	coding	Benign
X	48517259	T	C	T48517259C	PORCN	NM_203473.3(PORCN):c.1235T>C:p.Phe412Ser	coding	Pathogenic
X	48521910	G	C	G48521910C	EBP	NM_006579.3(EBP):c.-74+3G>C	noncoding	Benign/Likely_benign
X	48523784	G	A	G48523784A	EBP	NM_006579.3(EBP):c.13G>A:p.Ala5Thr	coding	Benign
X	48523786	G	T	G48523786T	EBP	NM_006579.3(EBP):c.15G>T:p.Ala5=	coding	Benign
X	48523804	C	A	C48523804A	EBP	NM_006579.3(EBP):c.33C>A:p.Tyr11Ter	coding	Pathogenic
X	48523824	T	C	T48523824C	EBP	NM_006579.3(EBP):c.53T>C:p.Leu18Pro	coding	Pathogenic
X	48523858	G	A	G48523858A	EBP	NM_006579.3(EBP):c.87G>A:p.Trp29Ter	coding	Pathogenic
X	48523910	T	C	T48523910C	EBP	NM_006579.3(EBP):c.139T>C:p.Trp47Arg	coding	Pathogenic
X	48523912	G	T	G48523912T	EBP	NM_006579.3(EBP):c.141G>T:p.Trp47Cys	coding	Pathogenic
X	48523953	G	A	G48523953A	EBP	NM_006579.3(EBP):c.182G>A:p.Trp61Ter	coding	Pathogenic
X	48523958	C	T	C48523958T	EBP	NM_006579.3(EBP):c.187C>T:p.Arg63Ter	coding	Pathogenic
X	48523995	T	A	T48523995A	EBP	NM_006579.3(EBP):c.224T>A:p.Ile75Asn	coding	Pathogenic
X	48524009	G	A	G48524009A	EBP	NM_006579.3(EBP):c.238G>A:p.Glu80Lys	coding	Pathogenic
X	48524032	C	G	C48524032G	EBP	NM_006579.3(EBP):c.261C>G:p.Tyr87Ter	coding	Pathogenic
X	48524053	A	C	A48524053C	EBP	NM_006579.3(EBP):c.282A>C:p.Gln94His	coding	Benign
X	48524074	T	A	T48524074A	EBP	NM_006579.3(EBP):c.301+2T>A	noncoding	Pathogenic
X	48524226	C	T	C48524226T	EBP	NM_006579.3(EBP):c.301+154C>T	noncoding	Benign
X	48526991	A	T	A48526991T	EBP	NM_006579.3(EBP):c.304A>T:p.Lys102Ter	coding	Pathogenic
X	48526997	T	C	T48526997C	EBP	NM_006579.3(EBP):c.310T>C:p.Tyr104His	coding	Pathogenic
X	48527015	C	T	C48527015T	EBP	NM_006579.3(EBP):c.328C>T:p.Arg110Ter	coding	Pathogenic
X	48527016	G	A	G48527016A	EBP	NM_006579.3(EBP):c.329G>A:p.Arg110Gln	coding	Pathogenic
X	48527026	G	T	G48527026T	EBP	NM_006579.3(EBP):c.338+1G>T	coding	Pathogenic
X	48527202	G	A	G48527202A	EBP	NM_006579.3(EBP):c.386G>A:p.Trp129Ter	coding	Pathogenic
X	48527255	C	T	C48527255T	EBP	NM_006579.3(EBP):c.439C>T:p.Arg147Cys	coding	Pathogenic
X	48527256	G	A	G48527256A	EBP	NM_006579.3(EBP):c.440G>A:p.Arg147His	coding	Pathogenic
X	48528244	T	G	T48528244G	EBP	NM_006579.3(EBP):c.480T>G:p.Tyr160Ter	coding	Pathogenic
X	48528287	C	T	C48528287T	EBP	NM_006579.3(EBP):c.523C>T:p.Gln175Ter	coding	Pathogenic
X	48528351	G	A	G48528351A	EBP	NM_006579.3(EBP):c.587G>A:p.Trp196Ter	coding	Pathogenic
X	48560053	T	G	T48560053G	TBC1D25	NM_002536.4(TBC1D25):c.1145T>G:p.Leu382Arg	coding	Benign
X	48600491	C	T	C48600491T	WDR13	NM_001347217.2(WDR13):c.696C>T:p.Leu232=	coding	Benign
X	48604320	C	T	C48604320T	WDR13	NM_001347217.2(WDR13):c.1203C>T:p.Ile401=	coding	Benign
X	48683854	A	T	A48683854T	WAS	NM_000377.2(WAS):c.1A>T:p.Met1Leu	coding	Pathogenic
X	48683872	G	T	G48683872T	WAS	NM_000377.2(WAS):c.19G>T:p.Gly7Ter	coding	Pathogenic
X	48683890	C	T	C48683890T	WAS	NM_000377.2(WAS):c.37C>T:p.Arg13Ter	coding	Pathogenic
X	48683943	C	T	C48683943T	WAS	NM_000377.2(WAS):c.90C>T:p.His30=	coding	Benign
X	48683944	G	A	G48683944A	WAS	NM_000377.2(WAS):c.91G>A:p.Glu31Lys	coding	Pathogenic/Likely_pathogenic
X	48683953	C	T	C48683953T	WAS	NM_000377.2(WAS):c.100C>T:p.Arg34Ter	coding	Pathogenic
X	48683974	C	T	C48683974T	WAS	NM_000377.3(WAS):c.121C>T:p.Arg41Ter	coding	Pathogenic
X	48684284	C	T	C48684284T	WAS	NM_000377.2(WAS):c.134C>T:p.Thr45Met	coding	Pathogenic
X	48684317	C	T	C48684317T	WAS	NM_000377.2(WAS):c.167C>T:p.Ala56Val	coding	Pathogenic
X	48684323	C	G	C48684323G	WAS	NM_000377.2(WAS):c.173C>G:p.Pro58Arg	coding	Pathogenic
X	48684334	G	C	G48684334C	WAS	NM_000377.3(WAS):c.184G>C:p.Glu62Gln	coding	Benign
X	48684373	G	A	G48684373A	WAS	NM_000377.2(WAS):c.223G>A:p.Val75Met	coding	Pathogenic
X	48684388	C	T	C48684388T	WAS	NM_000377.3(WAS):c.238C>T:p.Gln80Ter	coding	Pathogenic
X	48684394	T	C	T48684394C	WAS	NM_000377.2(WAS):c.244T>C:p.Ser82Pro	coding	Pathogenic
X	48684399	C	A	C48684399A	WAS	NM_000377.2(WAS):c.249C>A:p.Tyr83Ter	coding	Pathogenic
X	48684406	C	T	C48684406T	WAS	NM_000377.3(WAS):c.256C>T:p.Arg86Cys	coding	Pathogenic
X	48684407	G	A	G48684407A	WAS	NM_000377.2(WAS):c.257G>A:p.Arg86His	coding	Pathogenic
X	48684407	G	T	G48684407T	WAS	NM_000377.2(WAS):c.257G>T:p.Arg86Leu	coding	Pathogenic
X	48684421	C	T	C48684421T	WAS	NM_000377.2(WAS):c.271C>T:p.Gln91Ter	coding	Pathogenic
X	48684424	G	A	G48684424A	WAS	NM_000377.2(WAS):c.273+1G>A	coding	Pathogenic
X	48685593	A	G	A48685593G	WAS	NM_000377.3(WAS):c.320A>G:p.Tyr107Cys	coding	Pathogenic
X	48685628	G	T	G48685628T	WAS	NM_000377.2(WAS):c.355G>T:p.Gly119Ter	coding	Pathogenic
X	48685634	G	A	G48685634A	WAS	NM_000377.2(WAS):c.360+1G>A	coding	Pathogenic
X	48685634	G	C	G48685634C	WAS	NM_000377.2(WAS):c.360+1G>C	coding	Pathogenic
X	48685634	G	T	G48685634T	WAS	NM_000377.2(WAS):c.360+1G>T	coding	Pathogenic
X	48685764	G	A	G48685764A	WAS	NM_000377.2(WAS):c.391G>A:p.Glu131Lys	coding	Benign/Likely_benign
X	48685786	G	C	G48685786C	WAS	NM_000377.2(WAS):c.413G>C:p.Arg138Pro	coding	Pathogenic
X	48686136	T	G	T48686136G	WAS	NM_000377.3(WAS):c.559+2T>G	noncoding	Pathogenic
X	48686139	G	A	G48686139A	WAS	NM_000377.2(WAS):c.559+5G>A	noncoding	Pathogenic
X	48686780	G	A	G48686780A	WAS	NM_000377.3(WAS):c.560-1G>A	noncoding	Pathogenic
X	48686852	C	T	C48686852T	WAS	NM_000377.2(WAS):c.631C>T:p.Arg211Ter	coding	Pathogenic
X	48686928	C	G	C48686928G	WAS	NM_000377.2(WAS):c.707C>G:p.Ala236Gly	coding	Pathogenic
X	48686957	T	A	T48686957A	WAS	NM_000377.2(WAS):c.734+2T>A	noncoding	Pathogenic
X	48686960	G	A	G48686960A	WAS	NM_000377.3(WAS):c.734+5G>A	noncoding	Pathogenic
X	48688052	A	G	A48688052G	WAS	NM_000377.2(WAS):c.735-2A>G	noncoding	Pathogenic
X	48688097	G	A	G48688097A	WAS	NM_000377.2(WAS):c.777+1G>A	coding	Pathogenic
X	48688294	G	A	G48688294A	WAS	NM_000377.2(WAS):c.778-6G>A	noncoding	Pathogenic
X	48688331	T	C	T48688331C	WAS	NM_000377.2(WAS):c.809T>C:p.Leu270Pro	coding	Pathogenic
X	48688336	T	C	T48688336C	WAS	NM_000377.2(WAS):c.814T>C:p.Ser272Pro	coding	Pathogenic
X	48688395	C	T	C48688395T	WAS	NM_000377.2(WAS):c.873C>T:p.Tyr291=	coding	Benign/Likely_benign
X	48688403	T	C	T48688403C	WAS	NM_000377.2(WAS):c.881T>C:p.Ile294Thr	coding	Pathogenic/Likely_pathogenic
X	48688425	G	C	G48688425C	WAS	NM_000377.3(WAS):c.903G>C:p.Glu301Asp	coding	Benign
X	48688689	C	T	C48688689T	WAS	NM_000377.2(WAS):c.961C>T:p.Arg321Ter	coding	Pathogenic
X	48688723	T	C	T48688723C	WAS	NM_000377.2(WAS):c.995T>C:p.Val332Ala	coding	Benign/Likely_benign
X	48688818	C	T	C48688818T	WAS	NM_000377.3(WAS):c.1090C>T:p.Arg364Ter	coding	Pathogenic
X	48688909	C	T	C48688909T	WAS	NM_000377.3(WAS):c.1181C>T:p.Pro394Leu	coding	Benign
X	48688928	G	A	G48688928A	WAS	NM_000377.2(WAS):c.1200G>A:p.Pro400=	coding	Benign/Likely_benign
X	48688980	G	T	G48688980T	WAS	NM_000377.3(WAS):c.1252G>T:p.Ala418Ser	coding	Benign
X	48689004	G	T	G48689004T	WAS	NM_000377.3(WAS):c.1276G>T:p.Ala426Ser	coding	Benign
X	48689027	G	A	G48689027A	WAS	NM_000377.2(WAS):c.1299G>A:p.Ala433=	coding	Benign/Likely_benign
X	48689359	C	T	C48689359T	WAS	NM_000377.2(WAS):c.1378C>T:p.Pro460Ser	coding	Benign
X	48689404	C	T	C48689404T	WAS	NM_000377.3(WAS):c.1423C>T:p.Gln475Ter	coding	Pathogenic
X	48689423	T	A	T48689423A	WAS	NM_000377.2(WAS):c.1442T>A:p.Ile481Asn	coding	Pathogenic
X	48689434	G	A	G48689434A	WAS	NM_000377.2(WAS):c.1453G>A:p.Asp485Asn	coding	Pathogenic
X	48700687	T	C	T48700687C	SUV39H1	NM_003173.4(SUV39H1):c.762T>C:p.Arg254=	coding	Benign
X	48791111	T	C	T48791111C	GATA1	NM_002049.3(GATA1):c.2T>C:p.Met1Thr	coding	Pathogenic
X	48791144	C	G	C48791144G	GATA1	NM_002049.4(GATA1):c.35C>G:p.Ser12Ter	coding	Pathogenic
X	48791158	C	T	C48791158T	GATA1	NM_002049.4(GATA1):c.49C>T:p.Gln17Ter	coding	Pathogenic
X	48791173	G	A	G48791173A	GATA1	NM_002049.3(GATA1):c.64G>A:p.Ala22Thr	coding	Benign
X	48791198	C	G	C48791198G	GATA1	NM_002049.3(GATA1):c.89C>G:p.Ser30Ter	coding	Pathogenic
X	48791202	G	T	G48791202T	GATA1	NM_002049.4(GATA1):c.93G>T:p.Gly31=	coding	Benign
X	48791222	C	T	C48791222T	GATA1	NM_002049.3(GATA1):c.113C>T:p.Pro38Leu	coding	Benign/Likely_benign
X	48791272	G	A	G48791272A	GATA1	NM_002049.3(GATA1):c.163G>A:p.Ala55Thr	coding	Benign
X	48791310	G	A	G48791310A	GATA1	NM_002049.4(GATA1):c.201G>A:p.Glu67=	coding	Benign
X	48791321	A	G	A48791321G	GATA1	NM_002049.3(GATA1):c.212A>G:p.His71Arg	coding	Benign
X	48791329	G	C	G48791329C	GATA1	NM_002049.3(GATA1):c.220G>C:p.Val74Leu	coding	Pathogenic
X	48791984	G	A	G48791984A	GATA1	NM_002049.4(GATA1):c.361G>A:p.Val121Met	coding	Benign
X	48792102	A	G	A48792102G	GATA1	NM_002049.3(GATA1):c.479A>G:p.Asn160Ser	coding	Benign
X	48792194	C	T	C48792194T	GATA1	NM_002049.4(GATA1):c.571C>T:p.Arg191Cys	coding	Benign
X	48792337	G	A	G48792337A	GATA1	NM_002049.3(GATA1):c.613G>A:p.Val205Met	coding	Pathogenic
X	48792346	G	A	G48792346A	GATA1	NM_002049.3(GATA1):c.622G>A:p.Gly208Arg	coding	Pathogenic
X	48792346	G	C	G48792346C	GATA1	NM_002049.3(GATA1):c.622G>C:p.Gly208Arg	coding	Pathogenic
X	48792370	C	T	C48792370T	GATA1	NM_002049.3(GATA1):c.646C>T:p.Arg216Trp	coding	Pathogenic
X	48792371	G	A	G48792371A	GATA1	NM_002049.3(GATA1):c.647G>A:p.Arg216Gln	coding	Pathogenic
X	48792376	G	T	G48792376T	GATA1	NM_002049.3(GATA1):c.652G>T:p.Asp218Tyr	coding	Pathogenic
X	48792473	G	A	G48792473A	GATA1	NM_002049.4(GATA1):c.744+5G>A	noncoding	Benign
X	48793163	G	A	G48793163A	GATA1	NM_002049.4(GATA1):c.745-9G>A	noncoding	Benign
X	48793864	A	G	A48793864G	GATA1	NM_002049.4(GATA1):c.942A>G:p.Lys314=	coding	Benign
X	48793916	G	T	G48793916T	GATA1	NM_002049.3(GATA1):c.994G>T:p.Gly332Cys	coding	Pathogenic
X	48793967	G	A	G48793967A	GATA1	NM_002049.4(GATA1):c.1045G>A:p.Val349Met	coding	Benign
X	48794095	G	A	G48794095A	GATA1	NM_002049.3(GATA1):c.1173G>A:p.Thr391=	coding	Benign/Likely_benign
X	48794162	T	C	T48794162C	GATA1	NM_002049.3(GATA1):c.1240T>C:p.Ter414Arg	coding	Pathogenic/Likely_pathogenic
X	48803118	T	C	T48803118C	HDAC6	NM_006044.4(HDAC6):c.223-10T>C	noncoding	Benign
X	48805666	T	C	T48805666C	HDAC6	NM_006044.4(HDAC6):c.432T>C:p.Val144=	coding	Benign
X	48806443	C	T	C48806443T	HDAC6	NM_006044.4(HDAC6):c.513C>T:p.Tyr171=	coding	Benign
X	48806644	T	A	T48806644A	HDAC6	NM_006044.4(HDAC6):c.570T>A:p.Ser190=	coding	Benign
X	48815933	C	T	C48815933T	HDAC6	NM_006044.4(HDAC6):c.1374C>T:p.Ser458=	coding	Benign
X	48816207	C	T	C48816207T	HDAC6	NM_006044.4(HDAC6):c.1560C>T:p.Ala520=	coding	Benign
X	48817367	C	T	C48817367T	HDAC6	NM_006044.4(HDAC6):c.1833C>T:p.His611=	coding	Benign
X	48823066	A	G	A48823066G	HDAC6	NM_006044.4(HDAC6):c.2667A>G:p.Glu889=	coding	Benign
X	48823450	G	A	G48823450A	HDAC6	NM_006044.4(HDAC6):c.3051G>A:p.Glu1017=	coding	Benign
X	48823486	C	T	C48823486T	HDAC6	NM_006044.4(HDAC6):c.3087C>T:p.His1029=	coding	Benign
X	48823552	G	A	G48823552A	HDAC6	NM_006044.4(HDAC6):c.3153G>A:p.Gly1051=	coding	Benign
X	48824894	A	T	A48824894T	HDAC6	NM_006044.4(HDAC6):c.*282A>T	noncoding	Pathogenic
X	48829477	C	T	C48829477T	ERAS	NM_181532.3(ERAS):c.354C>T:p.Gly118=	coding	Benign
X	48898423	C	T	C48898423T	PQBP1	NM_005710.2(PQBP1):c.-87C>T	noncoding	Benign
X	48901224	C	T	C48901224T	PQBP1	NM_001032382.2(PQBP1):c.102C>T:p.Asp34=	coding	Benign
X	48901927	C	T	C48901927T	PQBP1	NM_005710.2(PQBP1):c.180-3C>T	noncoding	Benign
X	48901944	A	G	A48901944G	PQBP1	NM_005710.2(PQBP1):c.194A>G:p.Tyr65Cys	coding	Pathogenic
X	48902014	G	A	G48902014A	PQBP1	NM_005710.2(PQBP1):c.264G>A:p.Ser88=	coding	Benign/Likely_benign
X	48902017	C	T	C48902017T	PQBP1	NM_001032382.2(PQBP1):c.267C>T:p.Ala89=	coding	Benign
X	48902048	T	G	T48902048G	PQBP1	NM_005710.2(PQBP1):c.292+6T>G	noncoding	Benign/Likely_benign
X	48902739	C	T	C48902739T	PQBP1	NM_005710.2(PQBP1):c.585C>T:p.Ser195=	coding	Benign
X	48902740	C	T	C48902740T	PQBP1	NM_005710.2(PQBP1):c.586C>T:p.Arg196Ter	coding	Pathogenic
X	48902796	G	A	G48902796A	PQBP1	NM_005710.2(PQBP1):c.641+1G>A	coding	Pathogenic
X	48903087	C	T	C48903087T	PQBP1	NM_001032382.2(PQBP1):c.*3C>T	noncoding	Benign
X	48904779	C	T	C48904779T	SLC35A2	NM_005660.3(SLC35A2):c.1130G>A:p.Arg377His	coding	Benign
X	48904831	C	T	C48904831T	SLC35A2	NM_005660.3(SLC35A2):c.1078G>A:p.Val360Ile	coding	Benign/Likely_benign
X	48904846	C	T	C48904846T	SLC35A2	NM_005660.3(SLC35A2):c.1063G>A:p.Ala355Thr	coding	Benign
X	48904847	G	A	G48904847A	SLC35A2	NM_005660.3(SLC35A2):c.1062C>T:p.Ser354=	coding	Benign/Likely_benign
X	48904853	A	G	A48904853G	SLC35A2	NM_005660.3(SLC35A2):c.1056T>C:p.Ser352=	coding	Benign/Likely_benign
X	48904919	G	A	G48904919A	SLC35A2	NM_005660.3(SLC35A2):c.990C>T:p.Leu330=	coding	Benign/Likely_benign
X	48905065	C	T	C48905065T	SLC35A2	NM_005660.3(SLC35A2):c.844G>A:p.Gly282Arg	coding	Pathogenic
X	48905138	G	A	G48905138A	SLC35A2	NM_005660.3(SLC35A2):c.771C>T:p.Ala257=	coding	Benign
X	48905213	C	T	C48905213T	SLC35A2	NM_005660.3(SLC35A2):c.696G>A:p.Trp232Ter	coding	Pathogenic
X	48905270	G	A	G48905270A	SLC35A2	NM_005660.3(SLC35A2):c.639C>T:p.Ser213=	coding	Benign/Likely_benign
X	48905271	G	A	G48905271A	SLC35A2	NM_005660.3(SLC35A2):c.638C>T:p.Ser213Phe	coding	Pathogenic
X	48905348	G	A	G48905348A	SLC35A2	NM_005660.3(SLC35A2):c.561C>T:p.Ala187=	coding	Benign/Likely_benign
X	48909855	T	C	T48909855C	SLC35A2	NM_005660.3(SLC35A2):c.233A>G:p.Lys78Arg	coding	Pathogenic
X	48911565	C	A	C48911565A	SLC35A2	NM_005660.3(SLC35A2):c.72G>T:p.Glu24Asp	coding	Benign
X	48911594	G	T	G48911594T	SLC35A2	NM_005660.3(SLC35A2):c.43C>A:p.Pro15Thr	coding	Benign
X	48911625	A	C	A48911625C	SLC35A2	NM_005660.3(SLC35A2):c.12T>G:p.Val4=	coding	Benign/Likely_benign
X	48911634	C	T	C48911634T	SLC35A2	NM_005660.3(SLC35A2):c.3G>A:p.Met1Ile	coding	Pathogenic
X	48925907	G	C	G48925907C	OTUD5	NM_001136157.2(OTUD5):c.1203C>G:p.Ser401=	coding	Benign
X	48966182	A	C	A48966182C	KCND1	NM_004979.6(KCND1):c.1591T>G:p.Ser531Ala	coding	Benign
X	48966649	G	C	G48966649C	KCND1	NM_004979.6(KCND1):c.1396C>G:p.Leu466Val	coding	Benign
X	48966671	G	A	G48966671A	KCND1	NM_004979.6(KCND1):c.1374C>T:p.Ser458=	coding	Benign
X	48974194	T	C	T48974194C	GRIPAP1	NM_020137.5(GRIPAP1):c.2525A>G:p.Ter842=	coding	Benign
X	48975236	A	G	A48975236G	GRIPAP1	NM_020137.5(GRIPAP1):c.2352T>C:p.Gly784=	coding	Benign
X	48991091	C	T	C48991091T	GRIPAP1	NM_020137.5(GRIPAP1):c.477G>A:p.Gly159=	coding	Benign
X	48997338	C	T	C48997338T	GRIPAP1	NM_020137.5(GRIPAP1):c.218G>A:p.Ser73Asn	coding	Benign
X	48997361	C	T	C48997361T	GRIPAP1	NM_020137.5(GRIPAP1):c.199-4G>A	noncoding	Benign
X	48999472	G	A	G48999472A	GRIPAP1	NM_020137.5(GRIPAP1):c.75C>T:p.Tyr25=	coding	Benign
X	49030436	C	T	C49030436T	TFE3	NM_006521.6(TFE3):c.1450G>A:p.Ala484Thr	coding	Benign
X	49038417	G	A	G49038417A	TFE3	NM_006521.6(TFE3):c.560C>T:p.Thr187Met	coding	Pathogenic
X	49074881	A	C	A49074881C	WDR45	NM_001029896.2(WDR45):c.1005T>G:p.Tyr335Ter	coding	Pathogenic
X	49074881	A	T	A49074881T	WDR45	NM_001029896.2(WDR45):c.1005T>A:p.Tyr335Ter	coding	Pathogenic
X	49074913	C	T	C49074913T	WDR45	NM_001029896.2(WDR45):c.974-1G>A	coding	Pathogenic
X	49074922	G	T	G49074922T	WDR45	NM_001029896.2(WDR45):c.974-10C>A	noncoding	Benign
X	49075165	T	G	T49075165G	WDR45	NM_001029896.2(WDR45):c.944A>C:p.Asn315Thr	coding	Benign/Likely_benign
X	49075225	C	T	C49075225T	WDR45	NM_001029896.2(WDR45):c.884G>A:p.Trp295Ter	coding	Pathogenic
X	49075239	G	C	G49075239C	WDR45	NM_001029896.2(WDR45):c.870C>G:p.Tyr290Ter	coding	Pathogenic
X	49075244	G	A	G49075244A	WDR45	NM_001029896.2(WDR45):c.865C>T:p.Gln289Ter	coding	Pathogenic
X	49075271	C	T	C49075271T	WDR45	NM_001029896.2(WDR45):c.838G>A:p.Val280Met	coding	Benign
X	49075359	C	G	C49075359G	WDR45	NM_001029896.2(WDR45):c.827+5G>C	noncoding	Pathogenic
X	49075363	C	A	C49075363A	WDR45	NM_001029896.2(WDR45):c.827+1G>T	noncoding	Pathogenic
X	49075363	C	G	C49075363G	WDR45	NM_001029896.2(WDR45):c.827+1G>C	noncoding	Pathogenic
X	49075363	C	T	C49075363T	WDR45	NM_001029896.2(WDR45):c.827+1G>A	noncoding	Pathogenic
X	49075573	G	A	G49075573A	WDR45	NM_001029896.2(WDR45):c.697C>T:p.Arg233Ter	coding	Pathogenic
X	49075636	G	A	G49075636A	WDR45	NM_001029896.2(WDR45):c.634C>T:p.Gln212Ter	coding	Pathogenic
X	49075659	C	T	C49075659T	WDR45	NM_001029896.2(WDR45):c.611G>A:p.Gly204Asp	coding	Pathogenic
X	49075666	G	A	G49075666A	WDR45	NM_001029896.2(WDR45):c.604C>T:p.Gln202Ter	coding	Pathogenic
X	49075696	G	A	G49075696A	WDR45	NM_001029896.2(WDR45):c.574C>T:p.Gln192Ter	coding	Pathogenic
X	49075755	T	C	T49075755C	WDR45	NM_001029896.2(WDR45):c.517-2A>G	noncoding	Pathogenic
X	49075865	C	A	C49075865A	WDR45	NM_001029896.2(WDR45):c.516+1G>T	noncoding	Pathogenic
X	49075865	C	T	C49075865T	WDR45	NM_001029896.2(WDR45):c.516+1G>A	noncoding	Pathogenic
X	49075866	C	G	C49075866G	WDR45	NM_001029896.2(WDR45):c.516G>C:p.Val172=	coding	Pathogenic
X	49075874	G	A	G49075874A	WDR45	NM_001029896.2(WDR45):c.508C>T:p.Gln170Ter	coding	Pathogenic
X	49075947	T	C	T49075947C	WDR45	NM_001029896.2(WDR45):c.437-2A>G	noncoding	Pathogenic
X	49075947	T	G	T49075947G	WDR45	NM_001029896.2(WDR45):c.437-2A>C	noncoding	Pathogenic
X	49076469	G	A	G49076469A	WDR45	NM_001029896.2(WDR45):c.397C>T:p.Arg133Ter	coding	Pathogenic/Likely_pathogenic
X	49076515	G	A	G49076515A	WDR45	NM_001029896.2(WDR45):c.351C>T:p.Ile117=	coding	Benign
X	49076526	T	G	T49076526G	WDR45	NM_001029896.2(WDR45):c.342-2A>C	noncoding	Pathogenic
X	49076649	C	T	C49076649T	WDR45	NM_001029896.2(WDR45):c.337G>A:p.Asp113Asn	coding	Benign/Likely_benign
X	49076679	T	A	T49076679A	WDR45	NM_001029896.2(WDR45):c.307A>T:p.Lys103Ter	coding	Pathogenic
X	49076694	C	A	C49076694A	WDR45	NM_001029896.2(WDR45):c.292G>T:p.Glu98Ter	coding	Pathogenic
X	49076729	C	T	C49076729T	WDR45	NM_001029896.2(WDR45):c.257G>A:p.Arg86Gln	coding	Benign/Likely_benign
X	49077446	A	C	A49077446C	WDR45	NM_001029896.2(WDR45):c.235+197T>G	noncoding	Benign
X	49077625	C	A	C49077625A	WDR45	NM_001029896.2(WDR45):c.235+18G>T	noncoding	Benign
X	49077641	A	C	A49077641C	WDR45	NM_001029896.2(WDR45):c.235+2T>G	noncoding	Pathogenic
X	49077641	A	G	A49077641G	WDR45	NM_001029896.2(WDR45):c.235+2T>C	noncoding	Pathogenic
X	49077642	C	T	C49077642T	WDR45	NM_001029896.2(WDR45):c.235+1G>A	noncoding	Pathogenic
X	49077739	G	A	G49077739A	WDR45	NM_001029896.2(WDR45):c.139C>T:p.Gln47Ter	coding	Pathogenic
X	49077824	G	A	G49077824A	WDR45	NM_001029896.2(WDR45):c.130+13C>T	noncoding	Benign
X	49077913	T	C	T49077913C	WDR45	NM_001029896.2(WDR45):c.56-2A>G	noncoding	Pathogenic
X	49078044	G	A	G49078044A	WDR45	NM_001029896.2(WDR45):c.52C>T:p.Gln18Ter	coding	Pathogenic/Likely_pathogenic
X	49078050	G	A	G49078050A	WDR45	NM_001029896.2(WDR45):c.46C>T:p.Gln16Ter	coding	Pathogenic
X	49078076	C	T	C49078076T	WDR45	NM_001029896.2(WDR45):c.20G>A:p.Arg7Gln	coding	Benign
X	49078077	G	A	G49078077A	WDR45	NM_001029896.2(WDR45):c.19C>T:p.Arg7Ter	coding	Pathogenic
X	49078086	G	A	G49078086A	WDR45	NM_001029896.2(WDR45):c.10C>T:p.Gln4Ter	coding	Pathogenic
X	49078094	A	T	A49078094T	WDR45	NM_001029896.2(WDR45):c.2T>A:p.Met1Lys	coding	Pathogenic/Likely_pathogenic
X	49101067	C	G	C49101067G	WDR45	NM_007075.3(WDR45):c.-385G>C	noncoding	Benign
X	49122425	C	G	C49122425G	GPKOW	NM_015698.6(GPKOW):c.429G>C:p.Gly143=	coding	Benign
X	49172016	C	T	C49172016T	PLP2	NM_002668.3(PLP2):c.16C>T:p.Arg6Cys	coding	Benign
X	49191674	C	G	C49191674G	SYP	NM_003179.2(SYP):c.705G>C:p.Ala235=	coding	Benign
X	49191698	G	T	G49191698T	SYP	NM_003179.2(SYP):c.681C>A:p.Gly227=	coding	Benign
X	49191730	C	G	C49191730G	SYP	NM_003179.2(SYP):c.649G>C:p.Gly217Arg	coding	Pathogenic
X	49205209	G	A	G49205209A	CACNA1F	NM_001256789.3(CACNA1F):c.5829C>T:p.Asp1943=	coding	Benign
X	49205282	C	T	C49205282T	CACNA1F	NM_001256789.3(CACNA1F):c.5756G>A:p.Arg1919His	coding	Benign
X	49205338	A	G	A49205338G	CACNA1F	NM_001256789.3(CACNA1F):c.5700T>C:p.Phe1900=	coding	Benign/Likely_benign
X	49205709	G	A	G49205709A	CACNA1F	NM_001256789.3(CACNA1F):c.5577C>T:p.Gly1859=	coding	Benign/Likely_benign
X	49205805	C	T	C49205805T	CACNA1F	NM_001256789.3(CACNA1F):c.5481G>A:p.Trp1827Ter	coding	Pathogenic
X	49208590	C	T	C49208590T	CACNA1F	NM_001256789.3(CACNA1F):c.5048G>A:p.Gly1683Glu	coding	Benign
X	49208621	C	A	C49208621A	CACNA1F	NM_001256789.3(CACNA1F):c.5017G>T:p.Gly1673Trp	coding	Benign
X	49209941	C	A	C49209941A	CACNA1F	NM_001256789.3(CACNA1F):c.4690G>T:p.Glu1564Ter	coding	Pathogenic
X	49210604	G	A	G49210604A	CACNA1F	NM_001256789.3(CACNA1F):c.4471C>T:p.Arg1491Ter	coding	Pathogenic
X	49210608	T	G	T49210608G	CACNA1F	NM_001256789.3(CACNA1F):c.4467A>C:p.Pro1489=	coding	Benign
X	49211402	C	T	C49211402T	CACNA1F	NM_001256789.3(CACNA1F):c.4180G>A:p.Gly1394Ser	coding	Benign
X	49211947	G	A	G49211947A	CACNA1F	NM_001256789.3(CACNA1F):c.4051C>T:p.Arg1351Ter	coding	Pathogenic
X	49212688	C	T	C49212688T	CACNA1F	NM_001256789.3(CACNA1F):c.3921G>A:p.Trp1307Ter	coding	Pathogenic
X	49212747	G	A	G49212747A	CACNA1F	NM_001256789.3(CACNA1F):c.3862C>T:p.Arg1288Ter	coding	Pathogenic
X	49212756	G	A	G49212756A	CACNA1F	NM_001256789.3(CACNA1F):c.3853C>T:p.Arg1285Cys	coding	Pathogenic/Likely_pathogenic
X	49213869	C	T	C49213869T	CACNA1F	NM_001256789.3(CACNA1F):c.3742G>A:p.Ala1248Thr	coding	Benign
X	49214216	G	A	G49214216A	CACNA1F	NM_001256789.3(CACNA1F):c.3651C>T:p.Val1217=	coding	Benign/Likely_benign
X	49215380	C	A	C49215380A	CACNA1F	NM_005183.4(CACNA1F):c.3433G>T:p.Glu1145Ter	coding	Pathogenic
X	49215504	G	A	G49215504A	CACNA1F	NM_001256789.3(CACNA1F):c.3276C>T:p.His1092=	coding	Benign
X	49216381	C	T	C49216381T	CACNA1F	NM_001256789.3(CACNA1F):c.3236+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	49218502	G	A	G49218502A	CACNA1F	NM_001256789.3(CACNA1F):c.2881C>T:p.Arg961Ter	coding	Pathogenic/Likely_pathogenic
X	49218511	G	A	G49218511A	CACNA1F	NM_001256789.3(CACNA1F):c.2872C>T:p.Arg958Ter	coding	Pathogenic
X	49219318	C	T	C49219318T	CACNA1F	NM_001256789.3(CACNA1F):c.2673+3G>A	noncoding	Benign/Likely_benign
X	49219344	G	A	G49219344A	CACNA1F	NM_001256789.3(CACNA1F):c.2650C>T:p.Arg884Ter	coding	Pathogenic
X	49219633	C	T	C49219633T	CACNA1F	NM_001256789.3(CACNA1F):c.2543+1G>A	noncoding	Pathogenic
X	49219668	C	T	C49219668T	CACNA1F	NM_001256789.3(CACNA1F):c.2509G>A:p.Gly837Ser	coding	Pathogenic
X	49219707	C	A	C49219707A	CACNA1F	NM_001256789.3(CACNA1F):c.2470G>T:p.Glu824Ter	coding	Pathogenic
X	49222576	A	G	A49222576G	CACNA1F	NM_005183.4(CACNA1F):c.2267T>C:p.Ile756Thr	coding	Pathogenic
X	49222585	A	C	A49222585C	CACNA1F	NM_001256789.3(CACNA1F):c.2225T>G:p.Phe742Cys	coding	Pathogenic
X	49222840	T	C	T49222840C	CACNA1F	NM_001256789.3(CACNA1F):c.2086-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	49222976	G	A	G49222976A	CACNA1F	NM_001256789.3(CACNA1F):c.2038C>T:p.Arg680Ter	coding	Pathogenic
X	49223035	G	C	G49223035C	CACNA1F	NM_001256789.3(CACNA1F):c.1979C>G:p.Ser660Cys	coding	Benign
X	49224798	G	A	G49224798A	CACNA1F	NM_001256789.3(CACNA1F):c.1840C>T:p.Arg614Ter	coding	Pathogenic
X	49224829	A	G	A49224829G	CACNA1F	NM_001256789.3(CACNA1F):c.1809T>C:p.Gly603=	coding	Benign
X	49226025	C	T	C49226025T	CACNA1F	NM_001256789.3(CACNA1F):c.1535G>A:p.Arg512His	coding	Benign
X	49226037	C	T	C49226037T	CACNA1F	NM_001256789.3(CACNA1F):c.1523G>A:p.Arg508Gln	coding	Benign/Likely_benign
X	49226056	G	A	G49226056A	CACNA1F	NM_001256789.3(CACNA1F):c.1504C>T:p.Arg502Ter	coding	Pathogenic
X	49226490	G	A	G49226490A	CACNA1F	NM_001256789.3(CACNA1F):c.1382C>T:p.Ala461Val	coding	Benign
X	49226689	G	A	G49226689A	CACNA1F	NM_001256789.3(CACNA1F):c.1290C>T:p.Ala430=	coding	Benign
X	49226936	C	T	C49226936T	CACNA1F	NM_001256789.3(CACNA1F):c.1276+34G>A	noncoding	Pathogenic
X	49227012	C	A	C49227012A	CACNA1F	NM_001256789.3(CACNA1F):c.1234G>T:p.Glu412Ter	coding	Pathogenic
X	49228035	C	G	C49228035G	CACNA1F	NM_001256789.3(CACNA1F):c.1118+1G>C	noncoding	Pathogenic
X	49228048	C	T	C49228048T	CACNA1F	NM_001256789.3(CACNA1F):c.1106G>A:p.Gly369Asp	coding	Pathogenic
X	49228141	T	C	T49228141C	CACNA1F	NM_001256789.3(CACNA1F):c.1015-2A>G	noncoding	Pathogenic
X	49228368	G	T	G49228368T	CACNA1F	NM_001256789.3(CACNA1F):c.897C>A:p.Cys299Ter	coding	Pathogenic
X	49228438	G	A	G49228438A	CACNA1F	NM_001256789.3(CACNA1F):c.827C>T:p.Ala276Val	coding	Benign
X	49231709	G	A	G49231709A	CACNA1F	NM_001256789.3(CACNA1F):c.244C>T:p.Arg82Ter	coding	Pathogenic
X	49231805	G	A	G49231805A	CACNA1F	NM_005183.4(CACNA1F):c.148C>T:p.Arg50Ter	coding	Pathogenic
X	49231830	C	T	C49231830T	CACNA1F	NM_001256789.3(CACNA1F):c.123G>A:p.Gly41=	coding	Benign
X	49231912	G	A	G49231912A	CACNA1F	NM_001256789.3(CACNA1F):c.41C>T:p.Pro14Leu	coding	Benign
X	49235685	A	G	A49235685G	CCDC22	NM_014008.5(CCDC22):c.49A>G:p.Thr17Ala	coding	Pathogenic
X	49242913	T	C	T49242913C	CCDC22	NM_014008.5(CCDC22):c.389T>C:p.Ile130Thr	coding	Benign
X	49243123	G	A	G49243123A	CCDC22	NM_014008.5(CCDC22):c.474G>A:p.Ser158=	coding	Benign
X	49243277	C	T	C49243277T	CCDC22	NM_014008.5(CCDC22):c.536-7C>T	noncoding	Benign
X	49246731	G	A	G49246731A	CCDC22	NM_014008.5(CCDC22):c.715G>A:p.Glu239Lys	coding	Benign/Likely_benign
X	49246763	A	G	A49246763G	CCDC22	NM_014008.5(CCDC22):c.747A>G:p.Gln249=	coding	Benign
X	49247746	C	G	C49247746G	CCDC22	NM_014008.5(CCDC22):c.1070C>G:p.Thr357Ser	coding	Benign/Likely_benign
X	49248261	G	A	G49248261A	CCDC22	NM_014008.5(CCDC22):c.1163G>A:p.Arg388His	coding	Benign
X	49248482	G	A	G49248482A	CCDC22	NM_014008.5(CCDC22):c.1288G>A:p.Ala430Thr	coding	Benign
X	49249149	T	C	T49249149C	CCDC22	NM_014008.5(CCDC22):c.1540-18T>C	noncoding	Benign
X	49249509	G	A	G49249509A	CCDC22	NM_014008.5(CCDC22):c.1636G>A:p.Asp546Asn	coding	Benign/Likely_benign
X	49249543	A	G	A49249543G	CCDC22	NM_014008.5(CCDC22):c.1670A>G:p.Tyr557Cys	coding	Pathogenic
X	49251389	C	T	C49251389T	FOXP3	NM_014009.4(FOXP3):c.1241G>A:p.Arg414His	coding	Benign
X	49251440	C	T	C49251440T	FOXP3	NM_014009.3(FOXP3):c.1190G>A:p.Arg397Gln	coding	Pathogenic
X	49251441	G	A	G49251441A	FOXP3	NM_014009.3(FOXP3):c.1189C>T:p.Arg397Trp	coding	Pathogenic
X	49251480	C	T	C49251480T	FOXP3	NM_014009.3(FOXP3):c.1150G>A:p.Ala384Thr	coding	Pathogenic
X	49251481	G	A	G49251481A	FOXP3	NM_014009.4(FOXP3):c.1149C>T:p.Asn383=	coding	Benign
X	49251698	A	C	A49251698C	FOXP3	NM_014009.3(FOXP3):c.1112T>G:p.Phe371Cys	coding	Pathogenic
X	49251711	A	G	A49251711G	FOXP3	NM_014009.3(FOXP3):c.1099T>C:p.Phe367Leu	coding	Pathogenic
X	49251759	G	A	G49251759A	FOXP3	NM_014009.4(FOXP3):c.1051C>T:p.Leu351=	coding	Benign
X	49253160	C	T	C49253160T	FOXP3	NM_014009.4(FOXP3):c.1010G>A:p.Arg337Gln	coding	Pathogenic/Likely_pathogenic
X	49253161	G	A	G49253161A	FOXP3	NM_014009.3(FOXP3):c.1009C>T:p.Arg337Ter	coding	Pathogenic
X	49253200	A	G	A49253200G	FOXP3	NM_014009.3(FOXP3):c.970T>C:p.Phe324Leu	coding	Pathogenic
X	49253913	T	C	T49253913C	FOXP3	NM_014009.4(FOXP3):c.967+4A>G	noncoding	Pathogenic
X	49255759	G	T	G49255759T	FOXP3	NM_014009.4(FOXP3):c.691C>A:p.Gln231Lys	coding	Pathogenic
X	49256774	G	A	G49256774A	FOXP3	NM_014009.4(FOXP3):c.624C>T:p.Phe208=	coding	Benign
X	49256855	G	A	G49256855A	FOXP3	NM_014009.4(FOXP3):c.543C>T:p.Ser181=	coding	Benign/Likely_benign
X	49256972	C	T	C49256972T	FOXP3	NM_014009.4(FOXP3):c.495G>A:p.Pro165=	coding	Benign
X	49257520	G	A	G49257520A	FOXP3	NM_014009.4(FOXP3):c.361C>T:p.His121Tyr	coding	Benign
X	49257557	C	T	C49257557T	FOXP3	NM_014009.3(FOXP3):c.324G>A:p.Thr108=	coding	Benign/Likely_benign
X	49258295	C	A	C49258295A	FOXP3	NM_014009.3(FOXP3):c.210+1G>T	noncoding	Pathogenic
X	49258295	C	G	C49258295G	FOXP3	NM_014009.3(FOXP3):c.210+1G>C	noncoding	Pathogenic
X	49258295	C	T	C49258295T	FOXP3	NM_014009.4(FOXP3):c.210+1G>A	noncoding	Pathogenic
X	49258330	G	C	G49258330C	FOXP3	NM_014009.4(FOXP3):c.176C>G	coding	Benign
X	49258351	C	A	C49258351A	FOXP3	NM_014009.4(FOXP3):c.155G>T:p.Gly52Val	coding	Benign
X	49258364	G	A	G49258364A	FOXP3	NM_014009.4(FOXP3):c.142C>T:p.Arg48Ter	coding	Pathogenic
X	49258394	C	A	C49258394A	FOXP3	NM_014009.3(FOXP3):c.112G>T:p.Ala38Ser	coding	Benign
X	49258503	C	T	C49258503T	FOXP3	NM_014009.3(FOXP3):c.3G>A:p.Met1Ile	coding	Pathogenic
X	49264660	C	A	C49264660A	FOXP3	NM_014009.4(FOXP3):c.-23+1G>T	noncoding	Pathogenic
X	49264716	G	A	G49264716A	FOXP3	NM_014009.3(FOXP3):c.-78C>T	noncoding	Benign
X	49285842	C	T	C49285842T	PPP1R3F	NM_033215.5(PPP1R3F):c.1152C>T:p.Asp384=	coding	Benign
X	49689423	T	C	T49689423C	PAGE1	NM_003785.4(PAGE1):c.413A>G:p.Glu138Gly	coding	Benign
X	49689453	A	G	A49689453G	PAGE1	NM_003785.4(PAGE1):c.383T>C:p.Leu128Pro	coding	Benign
X	49691373	C	T	C49691373T	PAGE1	NM_003785.4(PAGE1):c.168G>A:p.Gly56=	coding	Benign
X	49830999	C	T	C49830999T	PAGE4	NM_007003.4(PAGE4):c.81C>T:p.Pro27=	coding	Benign
X	49881012	C	G	C49881012G	USP27X	NM_001145073.3(USP27X):c.705C>G:p.Gly235=	coding	Benign
X	49881346	A	G	A49881346G	USP27X	NM_001145073.3(USP27X):c.1039A>G:p.Met347Val	coding	Benign
X	49881448	T	C	T49881448C	USP27X	NM_001145073.3(USP27X):c.1141T>C:p.Tyr381His	coding	Pathogenic
X	49881534	G	T	G49881534T	USP27X	NM_001145073.3(USP27X):c.1227G>T:p.Leu409=	coding	Benign
X	50070007	C	T	C50070007T	CLCN5	NM_001127898.4(CLCN5):c.292C>T:p.Arg98Ter	coding	Pathogenic
X	50070025	C	T	C50070025T	CLCN5	NM_001127898.4(CLCN5):c.310C>T:p.Arg104Ter	coding	Pathogenic
X	50070042	G	A	G50070042A	CLCN5	NM_001127898.4(CLCN5):c.315+12G>A	noncoding	Benign
X	50072472	T	G	T50072472G	CLCN5	NM_001127898.4(CLCN5):c.316-17T>G	noncoding	Benign/Likely_benign
X	50072507	G	T	G50072507T	CLCN5	NM_001127898.4(CLCN5):c.334G>T:p.Glu112Ter	coding	Pathogenic
X	50072517	G	A	G50072517A	CLCN5	NM_001127898.4(CLCN5):c.344G>A:p.Trp115Ter	coding	Pathogenic
X	50072553	G	T	G50072553T	CLCN5	NM_001127898.4(CLCN5):c.380G>T:p.Gly127Val	coding	Pathogenic
X	50072589	G	A	G50072589A	CLCN5	NM_001127898.4(CLCN5):c.415+1G>A	coding	Pathogenic
X	50075789	A	T	A50075789T	CLCN5	NM_001127898.4(CLCN5):c.416-6A>T	noncoding	Benign
X	50075933	A	G	A50075933G	CLCN5	NM_001127898.4(CLCN5):c.554A>G:p.Lys185Arg	coding	Benign
X	50075954	G	A	G50075954A	CLCN5	NM_001127898.4(CLCN5):c.575G>A:p.Trp192Ter	coding	Pathogenic
X	50080626	G	A	G50080626A	CLCN5	NM_001127898.4(CLCN5):c.636G>A:p.Met212Ile	coding	Benign
X	50081636	T	C	T50081636C	CLCN5	NM_001127898.4(CLCN5):c.727-5T>C	noncoding	Benign
X	50081723	T	G	T50081723G	CLCN5	NM_001127898.4(CLCN5):c.809T>G:p.Leu270Arg	coding	Pathogenic
X	50081733	A	G	A50081733G	CLCN5	NM_001127898.4(CLCN5):c.819A>G:p.Ser273=	coding	Benign
X	50081798	T	C	T50081798C	CLCN5	NM_001127898.4(CLCN5):c.884T>C:p.Leu295Pro	coding	Pathogenic
X	50081839	C	T	C50081839T	CLCN5	NM_001127898.4(CLCN5):c.925C>T:p.Arg309Cys	coding	Benign
X	50085988	G	A	G50085988A	CLCN5	NM_001127898.4(CLCN5):c.942G>A:p.Ser314=	coding	Benign
X	50086035	G	T	G50086035T	CLCN5	NM_001127898.4(CLCN5):c.989G>T:p.Gly330Val	coding	Pathogenic
X	50086058	G	T	G50086058T	CLCN5	NM_001127898.4(CLCN5):c.1012G>T:p.Glu338Ter	coding	Pathogenic
X	50086338	A	G	A50086338G	CLCN5	NM_001127898.4(CLCN5):c.1025A>G:p.Tyr342Cys	coding	Pathogenic
X	50086357	G	C	G50086357C	CLCN5	NM_001127898.4(CLCN5):c.1044G>C:p.Leu348Phe	coding	Pathogenic
X	50086359	G	A	G50086359A	CLCN5	NM_001127898.4(CLCN5):c.1046G>A:p.Trp349Ter	coding	Pathogenic
X	50086360	G	A	G50086360A	CLCN5	NM_001127898.4(CLCN5):c.1047G>A:p.Trp349Ter	coding	Pathogenic
X	50086362	G	C	G50086362C	CLCN5	NM_001127898.4(CLCN5):c.1049G>C:p.Arg350Pro	coding	Pathogenic
X	50086516	G	C	G50086516C	CLCN5	NM_001127898.4(CLCN5):c.1203G>C:p.Leu401=	coding	Benign
X	50086536	G	A	G50086536A	CLCN5	NM_001127898.4(CLCN5):c.1223G>A:p.Arg408His	coding	Benign
X	50086543	C	A	C50086543A	CLCN5	NM_001127898.4(CLCN5):c.1230C>A:p.Asn410Lys	coding	Pathogenic
X	50086551	G	A	G50086551A	CLCN5	NM_001127898.4(CLCN5):c.1238G>A:p.Trp413Ter	coding	Pathogenic
X	50086556	C	T	C50086556T	CLCN5	NM_001127898.4(CLCN5):c.1243C>T:p.Arg415Trp	coding	Benign
X	50086557	G	A	G50086557A	CLCN5	NM_001127898.4(CLCN5):c.1244G>A:p.Arg415Gln	coding	Benign/Likely_benign
X	50086562	C	T	C50086562T	CLCN5	NM_001127898.4(CLCN5):c.1249C>T:p.Arg417Ter	coding	Pathogenic
X	50086570	C	T	C50086570T	CLCN5	NM_001127898.4(CLCN5):c.1257C>T:p.Thr419=	coding	Benign
X	50086709	G	C	G50086709C	CLCN5	NM_001127898.4(CLCN5):c.1396G>C:p.Asp466His	coding	Pathogenic
X	50086735	G	A	G50086735A	CLCN5	NM_001127898.4(CLCN5):c.1422G>A:p.Glu474=	coding	Benign
X	50086754	A	T	A50086754T	CLCN5	NM_001127898.4(CLCN5):c.1441A>T:p.Lys481Ter	coding	Pathogenic
X	50086786	C	T	C50086786T	CLCN5	NM_001127898.4(CLCN5):c.1473C>T:p.Gly491=	coding	Benign
X	50086801	T	C	T50086801C	CLCN5	NM_001127898.4(CLCN5):c.1488T>C:p.Ser496=	coding	Benign
X	50086871	G	T	G50086871T	CLCN5	NM_001127898.4(CLCN5):c.1557+1G>T	coding	Pathogenic
X	50088684	G	C	G50088684C	CLCN5	NM_001127898.4(CLCN5):c.1558-14G>C	noncoding	Benign
X	50088749	C	T	C50088749T	CLCN5	NM_001127898.4(CLCN5):c.1609C>T:p.Arg537Ter	coding	Pathogenic
X	50088816	G	A	G50088816A	CLCN5	NM_001127898.4(CLCN5):c.1676G>A:p.Trp559Ter	coding	Pathogenic
X	50088867	G	A	G50088867A	CLCN5	NM_001127898.4(CLCN5):c.1727G>A:p.Gly576Glu	coding	Pathogenic
X	50090118	G	A	G50090118A	CLCN5	NM_001127898.4(CLCN5):c.1747G>A:p.Gly583Arg	coding	Pathogenic
X	50090139	T	C	T50090139C	CLCN5	NM_001127898.4(CLCN5):c.1768T>C:p.Ser590Pro	coding	Pathogenic
X	50090181	T	A	T50090181A	CLCN5	NM_001127898.4(CLCN5):c.1810T>A:p.Tyr604Asn	coding	Pathogenic
X	50090187	G	A	G50090187A	CLCN5	NM_001127898.4(CLCN5):c.1816G>A:p.Val606Met	coding	Benign
X	50090218	A	G	A50090218G	CLCN5	NM_001127898.4(CLCN5):c.1847A>G:p.Lys616Arg	coding	Pathogenic
X	50090220	T	G	T50090220G	CLCN5	NM_001127898.4(CLCN5):c.1849T>G:p.Trp617Gly	coding	Pathogenic
X	50090222	G	T	G50090222T	CLCN5	NM_001127898.4(CLCN5):c.1851G>T:p.Trp617Cys	coding	Pathogenic
X	50090285	C	T	C50090285T	CLCN5	NM_001127898.4(CLCN5):c.1914C>T:p.Pro638=	coding	Benign
X	50090490	C	T	C50090490T	CLCN5	NM_001127898.4(CLCN5):c.2119C>T:p.Arg707Ter	coding	Pathogenic
X	50090678	C	T	C50090678T	CLCN5	NM_001127898.4(CLCN5):c.2152C>T:p.Arg718Ter	coding	Pathogenic
X	50090706	C	G	C50090706G	CLCN5	NM_001127898.4(CLCN5):c.2180C>G:p.Thr727Ser	coding	Benign
X	50092130	C	T	C50092130T	CLCN5	NM_001127898.4(CLCN5):c.2362C>T:p.Arg788Ter	coding	Pathogenic
X	50092778	A	G	A50092778G	CLCN5	NM_001127898.4(CLCN5):c.*559A>G	noncoding	Benign
X	50093666	T	G	T50093666G	CLCN5	NM_001127898.4(CLCN5):c.*1447T>G	noncoding	Benign
X	50093954	T	C	T50093954C	CLCN5	NM_001127898.4(CLCN5):c.*1735T>C	noncoding	Benign
X	50095079	T	C	T50095079C	CLCN5	NM_001127898.4(CLCN5):c.*2860T>C	noncoding	Benign
X	50095474	C	T	C50095474T	CLCN5	NM_001127898.4(CLCN5):c.*3255C>T	noncoding	Benign
X	50095628	A	G	A50095628G	CLCN5	NM_001127898.4(CLCN5):c.*3409A>G	noncoding	Benign
X	50095871	T	C	T50095871C	CLCN5	NM_001127898.4(CLCN5):c.*3652T>C	noncoding	Benign
X	50096911	C	T	C50096911T	CLCN5	NM_001127898.4(CLCN5):c.*4692C>T	noncoding	Benign
X	50097359	A	G	A50097359G	CLCN5	NM_001127898.4(CLCN5):c.*5140A>G	noncoding	Benign
X	50097363	C	T	C50097363T	CLCN5	NM_001127898.4(CLCN5):c.*5144C>T	noncoding	Benign
X	50098175	T	C	T50098175C	CLCN5	NM_001127898.4(CLCN5):c.*5956T>C	noncoding	Benign
X	50098591	T	C	T50098591C	CLCN5	NM_001127898.4(CLCN5):c.*6372T>C	noncoding	Benign
X	50098757	G	A	G50098757A	CLCN5	NM_001127898.4(CLCN5):c.*6538G>A	noncoding	Benign
X	50099174	C	G	C50099174G	CLCN5	NM_001127898.4(CLCN5):c.*6955C>G	noncoding	Benign
X	50308731	T	A	T50308731A	CCNB3	NM_033031.3(CCNB3):c.562T>A:p.Ser188Thr	coding	Benign
X	50308934	T	C	T50308934C	CCNB3	NM_033031.3(CCNB3):c.765T>C:p.Asn255=	coding	Benign
X	50310275	C	T	C50310275T	CCNB3	NM_033031.3(CCNB3):c.2106C>T:p.Ala702=	coding	Benign
X	50311170	G	C	G50311170C	CCNB3	NM_033031.3(CCNB3):c.3001G>C:p.Gly1001Arg	coding	Benign
X	50346749	T	A	T50346749A	CCNB3	NM_033031.3(CCNB3):c.3752T>A:p.Val1251Asp	coding	Pathogenic
X	50347718	C	G	C50347718G	CCNB3	NM_033031.3(CCNB3):c.3903C>G:p.Ser1301=	coding	Benign
X	50371729	G	A	G50371729A	DGKK	NM_001013742.4(DGKK):c.3607C>T:p.Pro1203Ser	coding	Benign
X	50376824	C	T	C50376824T	DGKK	NM_001013742.4(DGKK):c.3206G>A:p.Ser1069Asn	coding	Benign
X	50376928	A	G	A50376928G	DGKK	NM_001013742.4(DGKK):c.3112-10T>C	noncoding	Benign
X	50382602	G	A	G50382602A	DGKK	NM_001013742.4(DGKK):c.2551C>T:p.Arg851Cys	coding	Benign
X	50386581	G	A	G50386581A	DGKK	NM_001013742.4(DGKK):c.2124C>T:p.Asp708=	coding	Benign
X	50391446	A	T	A50391446T	DGKK	NM_001013742.4(DGKK):c.1835T>A:p.Ile612Asn	coding	Benign
X	50470362	G	A	G50470362A	DGKK	NM_001013742.4(DGKK):c.317C>T:p.Ala106Val	coding	Benign
X	50470430	T	C	T50470430C	DGKK	NM_001013742.4(DGKK):c.249A>G:p.Pro83=	coding	Benign
X	50598377	C	A	C50598377A	SHROOM4	NM_020717.3(SHROOM4):c.4101G>T:p.Leu1367Phe	coding	Benign
X	50598412	C	T	C50598412T	SHROOM4	NM_020717.3(SHROOM4):c.4066G>A:p.Val1356Ile	coding	Benign/Likely_benign
X	50607403	G	A	G50607403A	SHROOM4	NM_020717.3(SHROOM4):c.3739C>T:p.Gln1247Ter	coding	Pathogenic
X	50607408	G	A	G50607408A	SHROOM4	NM_020717.3(SHROOM4):c.3734C>T:p.Ser1245Leu	coding	Benign
X	50607674	T	C	T50607674C	SHROOM4	NM_020717.3(SHROOM4):c.3468A>G:p.Glu1156=	coding	Benign
X	50607728	T	C	T50607728C	SHROOM4	NM_020717.3(SHROOM4):c.3414A>G:p.Glu1138=	coding	Benign
X	50607876	G	A	G50607876A	SHROOM4	NM_020717.3(SHROOM4):c.3266C>T:p.Ser1089Leu	coding	Pathogenic
X	50607974	A	G	A50607974G	SHROOM4	NM_020717.3(SHROOM4):c.3168T>C:p.Arg1056=	coding	Benign
X	50607995	C	T	C50607995T	SHROOM4	NM_020717.3(SHROOM4):c.3147G>A:p.Met1049Ile	coding	Benign
X	50633576	C	T	C50633576T	SHROOM4	NM_020717.3(SHROOM4):c.2497G>A:p.Ala833Thr	coding	Benign
X	50633881	T	C	T50633881C	SHROOM4	NM_020717.3(SHROOM4):c.2192A>G:p.Glu731Gly	coding	Benign
X	50634446	T	A	T50634446A	SHROOM4	NM_020717.3(SHROOM4):c.1627A>T:p.Thr543Ser	coding	Benign
X	50635234	C	T	C50635234T	SHROOM4	NM_020717.3(SHROOM4):c.839G>A:p.Arg280Gln	coding	Benign
X	50635634	G	A	G50635634A	SHROOM4	NM_020717.3(SHROOM4):c.439C>T:p.His147Tyr	coding	Benign
X	50695789	C	T	C50695789T	SHROOM4	NM_020717.3(SHROOM4):c.266G>A:p.Arg89Lys	coding	Benign
X	50910775	C	G	C50910775G	BMP15	NM_005448.2(BMP15):c.-9C>G	noncoding	Benign
X	50910796	A	C	A50910796C	BMP15	NM_005448.2(BMP15):c.13A>C:p.Ser5Arg	coding	Benign/Likely_benign
X	50910945	C	T	C50910945T	BMP15	NM_005448.2(BMP15):c.162C>T:p.Gly54=	coding	Benign
X	50911091	A	G	A50911091G	BMP15	NM_005448.2(BMP15):c.308A>G:p.Asn103Ser	coding	Benign
X	50915871	T	C	T50915871C	BMP15	NM_005448.2(BMP15):c.443T>C:p.Leu148Pro	coding	Benign/Likely_benign
X	50916026	C	T	C50916026T	BMP15	NM_005448.2(BMP15):c.598C>T:p.His200Tyr	coding	Benign
X	50916059	C	T	C50916059T	BMP15	NM_005448.2(BMP15):c.631C>T:p.Gln211Ter	coding	Pathogenic
X	50916132	A	G	A50916132G	BMP15	NM_005448.2(BMP15):c.704A>G:p.Tyr235Cys	coding	Pathogenic
X	50916247	A	C	A50916247C	BMP15	NM_005448.2(BMP15):c.819A>C:p.Ser273=	coding	Benign
X	50916280	C	T	C50916280T	BMP15	NM_005448.2(BMP15):c.852C>T:p.Ser284=	coding	Benign
X	50916439	C	T	C50916439T	BMP15	NM_005448.2(BMP15):c.1011C>T:p.His337=	coding	Benign
X	50916620	G	A	G50916620A	BMP15	NM_005448.2(BMP15):c.*13G>A	noncoding	Benign
X	51407349	G	T	G51407349T	EZHIP	NM_203407.3(EZHIP):c.333G>T:p.Gly111=	coding	Benign
X	51496247	C	T	C51496247T	NUDT11	NM_018159.4(NUDT11):c.198G>A:p.Val66=	coding	Benign
X	51496319	C	T	C51496319T	NUDT11	NM_018159.4(NUDT11):c.126G>A:p.Pro42=	coding	Benign
X	51496361	T	C	T51496361C	NUDT11	NM_018159.4(NUDT11):c.84A>G:p.Glu28=	coding	Benign
X	51496376	C	T	C51496376T	NUDT11	NM_018159.4(NUDT11):c.69G>A:p.Leu23=	coding	Benign
X	51743694	C	T	C51743694T	GSPT2	NM_018094.5(GSPT2):c.68C>T:p.Pro23Leu	coding	Benign
X	51744049	G	A	G51744049A	GSPT2	NM_018094.5(GSPT2):c.423G>A:p.Glu141=	coding	Benign
X	51744647	G	A	G51744647A	GSPT2	NM_018094.5(GSPT2):c.1021G>A:p.Val341Ile	coding	Pathogenic
X	51894750	G	A	G51894750A	MAGED1	NM_006986.4(MAGED1):c.46-303G>A	coding	Benign
X	51896717	G	A	G51896717A	MAGED1	NM_006986.4(MAGED1):c.1062G>A:p.Val354=	coding	Benign
X	51901618	T	C	T51901618C	MAGED1	NM_006986.4(MAGED1):c.2025T>C:p.Asp675=	coding	Benign
X	51901900	T	C	T51901900C	MAGED1	NM_006986.4(MAGED1):c.2307T>C:p.Phe769=	coding	Benign
X	53084628	G	A	G53084628A	TSPYL2	NM_022117.4(TSPYL2):c.885+6G>A	noncoding	Benign
X	53085885	G	C	G53085885C	TSPYL2	NM_022117.4(TSPYL2):c.1493G>C:p.Ser498Thr	coding	Benign
X	53193013	C	T	C53193013T	KDM5C	NM_004187.4(KDM5C):c.4637G>A:p.Arg1546Gln	coding	Benign/Likely_benign
X	53193451	G	A	G53193451A	KDM5C	NM_004187.5(KDM5C):c.4303C>T:p.Arg1435Cys	coding	Benign
X	53193564	G	A	G53193564A	KDM5C	NM_004187.5(KDM5C):c.4190C>T:p.Ala1397Val	coding	Benign
X	53194187	G	C	G53194187C	KDM5C	NM_004187.5(KDM5C):c.3990C>G:p.Ala1330=	coding	Benign/Likely_benign
X	53194282	C	A	C53194282A	KDM5C	NM_004187.5(KDM5C):c.3895G>T:p.Glu1299Ter	coding	Pathogenic
X	53194297	G	A	G53194297A	KDM5C	NM_004187.5(KDM5C):c.3880C>T:p.Gln1294Ter	coding	Pathogenic
X	53194399	C	A	C53194399A	KDM5C	NM_004187.5(KDM5C):c.3778G>T:p.Ala1260Ser	coding	Benign
X	53194637	C	T	C53194637T	KDM5C	NM_004187.5(KDM5C):c.3540G>A:p.Thr1180=	coding	Benign
X	53194735	C	T	C53194735T	KDM5C	NM_004187.5(KDM5C):c.3442G>A:p.Val1148Met	coding	Pathogenic
X	53194736	G	A	G53194736A	KDM5C	NM_004187.5(KDM5C):c.3441C>T:p.Ile1147=	coding	Benign/Likely_benign
X	53194745	T	C	T53194745C	KDM5C	NM_004187.5(KDM5C):c.3439-7A>G	noncoding	Benign
X	53194958	C	T	C53194958T	KDM5C	NM_004187.5(KDM5C):c.3411G>A:p.Ala1137=	coding	Benign
X	53195918	G	A	G53195918A	KDM5C	NM_004187.5(KDM5C):c.3118C>T:p.Gln1040Ter	coding	Pathogenic
X	53195968	T	C	T53195968C	KDM5C	NM_004187.5(KDM5C):c.3068A>G:p.Lys1023Arg	coding	Pathogenic
X	53195978	G	A	G53195978A	KDM5C	NM_004187.5(KDM5C):c.3058C>T:p.Gln1020Ter	coding	Pathogenic
X	53196055	C	G	C53196055G	KDM5C	NM_004187.4(KDM5C):c.2982-1G>C	coding	Pathogenic
X	53196844	T	C	T53196844C	KDM5C	NM_004187.5(KDM5C):c.2823A>G:p.Ser941=	coding	Benign
X	53196882	G	A	G53196882A	KDM5C	NM_004187.5(KDM5C):c.2785C>T:p.Arg929Ter	coding	Pathogenic/Likely_pathogenic
X	53196897	G	A	G53196897A	KDM5C	NM_004187.5(KDM5C):c.2770C>T:p.Gln924Ter	coding	Pathogenic
X	53197818	G	A	G53197818A	KDM5C	NM_004187.5(KDM5C):c.2575C>T:p.Gln859Ter	coding	Pathogenic
X	53198503	C	T	C53198503T	KDM5C	NM_004187.5(KDM5C):c.2503G>A:p.Gly835Ser	coding	Benign
X	53198524	G	A	G53198524A	KDM5C	NM_004187.5(KDM5C):c.2482C>T:p.Arg828Ter	coding	Pathogenic
X	53198800	G	A	G53198800A	KDM5C	NM_004187.5(KDM5C):c.2332C>T:p.Arg778Ter	coding	Pathogenic
X	53198813	C	T	C53198813T	KDM5C	NM_004187.5(KDM5C):c.2319G>A:p.Trp773Ter	coding	Pathogenic
X	53198836	G	A	G53198836A	KDM5C	NM_004187.5(KDM5C):c.2296C>T:p.Arg766Trp	coding	Pathogenic
X	53198966	C	A	C53198966A	KDM5C	NM_004187.4(KDM5C):c.2243+11G>T	noncoding	Benign
X	53199029	G	A	G53199029A	KDM5C	NM_004187.5(KDM5C):c.2191C>T:p.Leu731Phe	coding	Pathogenic
X	53199048	G	T	G53199048T	KDM5C	NM_004187.5(KDM5C):c.2172C>A:p.Cys724Ter	coding	Pathogenic
X	53199068	C	G	C53199068G	KDM5C	NM_004187.5(KDM5C):c.2152G>C:p.Ala718Pro	coding	Pathogenic
X	53199108	C	T	C53199108T	KDM5C	NM_004187.5(KDM5C):c.2112G>A:p.Glu704=	coding	Benign
X	53199140	G	A	G53199140A	KDM5C	NM_004187.5(KDM5C):c.2080C>T:p.Arg694Ter	coding	Pathogenic
X	53201727	C	T	C53201727T	KDM5C	NM_004187.5(KDM5C):c.1884G>A:p.Gln628=	coding	Benign
X	53201926	G	C	G53201926C	KDM5C	NM_004187.5(KDM5C):c.1794C>G:p.Pro598=	coding	Benign
X	53201956	C	T	C53201956T	KDM5C	NM_004187.5(KDM5C):c.1764G>A:p.Gln588=	coding	Benign/Likely_benign
X	53210426	G	A	G53210426A	KDM5C	NM_004187.5(KDM5C):c.1734C>T:p.Ser578=	coding	Benign
X	53210516	C	T	C53210516T	KDM5C	NM_004187.5(KDM5C):c.1644G>A:p.Val548=	coding	Benign
X	53210702	C	T	C53210702T	KDM5C	NM_004187.5(KDM5C):c.1557G>A:p.Trp519Ter	coding	Pathogenic
X	53210718	T	A	T53210718A	KDM5C	NM_004187.5(KDM5C):c.1541A>T:p.His514Leu	coding	Pathogenic
X	53210795	G	T	G53210795T	KDM5C	NM_004187.5(KDM5C):c.1464C>A:p.Cys488Ter	coding	Pathogenic
X	53210820	G	A	G53210820A	KDM5C	NM_004187.5(KDM5C):c.1439C>T:p.Pro480Leu	coding	Pathogenic
X	53210859	T	C	T53210859C	KDM5C	NM_004187.4(KDM5C):c.1402-2A>G	noncoding	Pathogenic
X	53211545	G	C	G53211545C	KDM5C	NM_004187.5(KDM5C):c.1353C>G:p.Ser451Arg	coding	Pathogenic
X	53211657	T	C	T53211657C	KDM5C	NM_004187.4(KDM5C):c.1243-2A>G	noncoding	Pathogenic
X	53211793	G	A	G53211793A	KDM5C	NM_004187.5(KDM5C):c.1236C>T:p.Pro412=	coding	Benign
X	53211826	G	A	G53211826A	KDM5C	NM_004187.5(KDM5C):c.1203C>T:p.Ala401=	coding	Benign
X	53215862	C	T	C53215862T	KDM5C	NM_004187.5(KDM5C):c.896G>A:p.Ser299Asn	coding	Benign/Likely_benign
X	53217205	G	A	G53217205A	KDM5C	NM_004187.5(KDM5C):c.595C>T:p.Gln199Ter	coding	Pathogenic
X	53217236	C	T	C53217236T	KDM5C	NM_004187.5(KDM5C):c.564G>A:p.Lys188=	coding	Benign
X	53217280	G	A	G53217280A	KDM5C	NM_004187.5(KDM5C):c.523-3C>T	noncoding	Benign
X	53217832	A	T	A53217832T	KDM5C	NM_004187.5(KDM5C):c.486T>A:p.Tyr162Ter	coding	Pathogenic
X	53218275	C	A	C53218275A	KDM5C	NM_004187.4(KDM5C):c.351+1G>T	noncoding	Pathogenic
X	53218398	C	T	C53218398T	KDM5C	NM_004187.5(KDM5C):c.229G>A:p.Ala77Thr	coding	Pathogenic
X	53220910	G	A	G53220910A	KDM5C	NM_004187.5(KDM5C):c.157C>T:p.Gln53Ter	coding	Pathogenic
X	53220911	C	A	C53220911A	KDM5C	NM_004187.5(KDM5C):c.156G>T:p.Trp52Cys	coding	Pathogenic
X	53224782	G	A	G53224782A	KDM5C	NM_004187.5(KDM5C):c.108C>T:p.Pro36=	coding	Benign/Likely_benign
X	53224801	T	C	T53224801C	KDM5C	NM_004187.5(KDM5C):c.89A>G:p.Tyr30Cys	coding	Pathogenic
X	53234278	C	T	C53234278T	IQSEC2	NM_001111125.3(IQSEC2):c.4408G>A:p.Ala1470Thr	coding	Benign
X	53234582	C	T	C53234582T	IQSEC2	NM_001111125.3(IQSEC2):c.4104G>A:p.Leu1368=	coding	Benign/Likely_benign
X	53234830	G	A	G53234830A	IQSEC2	NM_001111125.3(IQSEC2):c.3856C>T:p.Gln1286Ter	coding	Pathogenic
X	53235007	G	A	G53235007A	IQSEC2	NM_001111125.3(IQSEC2):c.3679C>T:p.Gln1227Ter	coding	Pathogenic
X	53236386	G	A	G53236386A	IQSEC2	NM_001111125.3(IQSEC2):c.3387C>T:p.Tyr1129=	coding	Benign/Likely_benign
X	53236386	G	T	G53236386T	IQSEC2	NM_001111125.3(IQSEC2):c.3387C>A:p.Tyr1129Ter	coding	Pathogenic
X	53236495	G	C	G53236495C	IQSEC2	NM_001111125.3(IQSEC2):c.3278C>G:p.Ser1093Trp	coding	Pathogenic
X	53238127	C	T	C53238127T	IQSEC2	NM_001111125.3(IQSEC2):c.3277+18G>A	noncoding	Benign
X	53238172	G	A	G53238172A	IQSEC2	NM_001111125.3(IQSEC2):c.3250C>T:p.Gln1084Ter	coding	Pathogenic
X	53238193	G	T	G53238193T	IQSEC2	NM_001111125.3(IQSEC2):c.3229C>A:p.Arg1077Ser	coding	Benign
X	53239213	G	A	G53239213A	IQSEC2	NM_001111125.3(IQSEC2):c.3097C>T:p.Gln1033Ter	coding	Pathogenic
X	53239229	G	A	G53239229A	IQSEC2	NM_001111125.3(IQSEC2):c.3081C>T:p.Leu1027=	coding	Benign
X	53241770	C	G	C53241770G	IQSEC2	NM_001111125.3(IQSEC2):c.3015+14G>C	noncoding	Benign
X	53241815	C	T	C53241815T	IQSEC2	NM_001111125.3(IQSEC2):c.2984G>A:p.Arg995Gln	coding	Pathogenic
X	53241816	G	A	G53241816A	IQSEC2	NM_001111125.3(IQSEC2):c.2983C>T:p.Arg995Trp	coding	Pathogenic/Likely_pathogenic
X	53243331	C	T	C53243331T	IQSEC2	NM_001111125.3(IQSEC2):c.2889+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	53243374	G	A	G53243374A	IQSEC2	NM_001111125.3(IQSEC2):c.2847C>T:p.Ser949=	coding	Benign/Likely_benign
X	53243389	G	A	G53243389A	IQSEC2	NM_001111125.3(IQSEC2):c.2832C>T:p.Asn944=	coding	Benign
X	53243390	T	C	T53243390C	IQSEC2	NM_001111125.3(IQSEC2):c.2831A>G:p.Asn944Ser	coding	Benign
X	53243445	G	A	G53243445A	IQSEC2	NM_001111125.3(IQSEC2):c.2776C>T:p.Arg926Ter	coding	Pathogenic
X	53246968	C	T	C53246968T	IQSEC2	NM_001111125.3(IQSEC2):c.2749+1G>A	noncoding	Pathogenic
X	53247008	G	A	G53247008A	IQSEC2	NM_001111125.3(IQSEC2):c.2710C>T:p.Arg904Ter	coding	Pathogenic
X	53247100	C	T	C53247100T	IQSEC2	NM_001111125.3(IQSEC2):c.2618G>A:p.Arg873His	coding	Benign
X	53248112	A	G	A53248112G	IQSEC2	NM_001111125.3(IQSEC2):c.2582+2T>C	noncoding	Pathogenic
X	53248114	C	G	C53248114G	IQSEC2	NM_001111125.3(IQSEC2):c.2582G>C:p.Ser861Thr	coding	Pathogenic
X	53248125	G	T	G53248125T	IQSEC2	NM_001111125.3(IQSEC2):c.2571C>A:p.Ile857=	coding	Benign/Likely_benign
X	53248133	G	A	G53248133A	IQSEC2	NM_001111125.3(IQSEC2):c.2563C>T:p.Arg855Ter	coding	Pathogenic
X	53248188	C	T	C53248188T	IQSEC2	NM_001111125.3(IQSEC2):c.2508G>A:p.Ala836=	coding	Benign
X	53248219	A	G	A53248219G	IQSEC2	NM_001111125.3(IQSEC2):c.2477T>C:p.Met826Thr	coding	Pathogenic
X	53248778	T	G	T53248778G	IQSEC2	NM_001111125.3(IQSEC2):c.2402A>C:p.Gln801Pro	coding	Pathogenic
X	53248814	G	A	G53248814A	IQSEC2	NM_001111125.3(IQSEC2):c.2366C>T:p.Ala789Val	coding	Pathogenic
X	53248847	C	T	C53248847T	IQSEC2	NM_001111125.3(IQSEC2):c.2333G>A:p.Arg778Gln	coding	Benign/Likely_benign
X	53248851	C	A	C53248851A	IQSEC2	NM_001111125.3(IQSEC2):c.2329G>T:p.Glu777Ter	coding	Pathogenic
X	53249140	T	C	T53249140C	IQSEC2	NM_001111125.3(IQSEC2):c.2298-258A>G	noncoding	Benign
X	53250265	C	T	C53250265T	IQSEC2	NM_001111125.3(IQSEC2):c.2297+14G>A	noncoding	Benign
X	53250303	C	T	C53250303T	IQSEC2	NM_001111125.3(IQSEC2):c.2273G>A:p.Arg758Gln	coding	Pathogenic
X	53250304	G	A	G53250304A	IQSEC2	NM_001111125.3(IQSEC2):c.2272C>T:p.Arg758Ter	coding	Pathogenic
X	53250478	C	A	C53250478A	IQSEC2	NM_001111125.3(IQSEC2):c.2098G>T:p.Glu700Ter	coding	Pathogenic
X	53250710	C	T	C53250710T	IQSEC2	NM_001111125.3(IQSEC2):c.1866G>A:p.Glu622=	coding	Benign
X	53250918	G	T	G53250918T	IQSEC2	NM_001111125.3(IQSEC2):c.1658C>A:p.Pro553Gln	coding	Benign
X	53250920	C	T	C53250920T	IQSEC2	NM_001111125.3(IQSEC2):c.1656G>A:p.Pro552=	coding	Benign
X	53250935	C	T	C53250935T	IQSEC2	NM_001111125.3(IQSEC2):c.1641G>A:p.Ala547=	coding	Benign
X	53250939	C	T	C53250939T	IQSEC2	NM_001111125.3(IQSEC2):c.1637G>A:p.Trp546Ter	coding	Pathogenic
X	53250956	C	T	C53250956T	IQSEC2	NM_001111125.3(IQSEC2):c.1620G>A:p.Gln540=	coding	Benign
X	53250984	C	G	C53250984G	IQSEC2	NM_001111125.3(IQSEC2):c.1592G>C:p.Arg531Pro	coding	Benign/Likely_benign
X	53250985	G	A	G53250985A	IQSEC2	NM_001111125.3(IQSEC2):c.1591C>T:p.Arg531Ter	coding	Pathogenic/Likely_pathogenic
X	53250997	G	A	G53250997A	IQSEC2	NM_001111125.3(IQSEC2):c.1579C>T:p.Gln527Ter	coding	Pathogenic
X	53251127	C	T	C53251127T	IQSEC2	NM_001111125.3(IQSEC2):c.1449G>A:p.Pro483=	coding	Benign/Likely_benign
X	53251184	G	T	G53251184T	IQSEC2	NM_001111125.3(IQSEC2):c.1402-10C>A	noncoding	Benign/Likely_benign
X	53251185	G	T	G53251185T	IQSEC2	NM_001111125.3(IQSEC2):c.1402-11C>A	noncoding	Benign
X	53254532	G	A	G53254532A	IQSEC2	NM_001111125.3(IQSEC2):c.1399C>T:p.Gln467Ter	coding	Pathogenic
X	53254745	C	A	C53254745A	IQSEC2	NM_001111125.3(IQSEC2):c.1186G>T:p.Glu396Ter	coding	Pathogenic
X	53254755	G	A	G53254755A	IQSEC2	NM_001111125.3(IQSEC2):c.1176C>T:p.Phe392=	coding	Benign/Likely_benign
X	53254856	G	A	G53254856A	IQSEC2	NM_001111125.3(IQSEC2):c.1075C>T:p.Arg359Cys	coding	Pathogenic
X	53255749	G	A	G53255749A	IQSEC2	NM_001111125.3(IQSEC2):c.999+51C>T	noncoding	Benign
X	53279396	T	C	T53279396C	IQSEC2	NM_001111125.3(IQSEC2):c.737+12499A>G	noncoding	Benign
X	53320455	G	A	G53320455A	IQSEC2	NM_001111125.3(IQSEC2):c.669C>T:p.Thr223=	coding	Benign
X	53320481	G	A	G53320481A	IQSEC2	NM_001111125.3(IQSEC2):c.643C>T:p.Pro215Ser	coding	Benign
X	53320557	C	G	C53320557G	IQSEC2	NM_001111125.3(IQSEC2):c.567G>C:p.Ser189=	coding	Benign
X	53320647	C	T	C53320647T	IQSEC2	NM_001111125.3(IQSEC2):c.477G>A:p.Leu159=	coding	Benign
X	53320781	C	A	C53320781A	IQSEC2	NM_001111125.3(IQSEC2):c.343G>T:p.Gly115Cys	coding	Benign/Likely_benign
X	53320923	C	G	C53320923G	IQSEC2	NM_001111125.3(IQSEC2):c.201G>C:p.Leu67=	coding	Benign
X	53320936	T	C	T53320936C	IQSEC2	NM_001111125.3(IQSEC2):c.188A>G:p.Glu63Gly	coding	Benign/Likely_benign
X	53321040	G	A	G53321040A	IQSEC2	NM_001111125.3(IQSEC2):c.84C>T:p.Asn28=	coding	Benign/Likely_benign
X	53321106	C	T	C53321106T	IQSEC2	NM_001111125.3(IQSEC2):c.18G>A:p.Gly6=	coding	Benign
X	53374622	C	T	C53374622T	SMC1A	NM_001281463.1(SMC1A):c.*5481G>A	noncoding	Benign
X	53374659	C	T	C53374659T	SMC1A	NM_001281463.1(SMC1A):c.*5444G>A	noncoding	Benign
X	53375087	A	G	A53375087G	SMC1A	NM_001281463.1(SMC1A):c.*5016T>C	noncoding	Benign
X	53375216	A	G	A53375216G	SMC1A	NM_006306.4(SMC1A):c.*4887T>C	noncoding	Benign
X	53376252	T	A	T53376252A	SMC1A	NM_001281463.1(SMC1A):c.*3851A>T	noncoding	Benign
X	53376682	C	A	C53376682A	SMC1A	NM_001281463.1(SMC1A):c.*3421G>T	noncoding	Benign
X	53377247	T	A	T53377247A	SMC1A	NM_001281463.1(SMC1A):c.*2856A>T	noncoding	Benign
X	53377680	C	T	C53377680T	SMC1A	NM_001281463.1(SMC1A):c.*2423G>A	noncoding	Benign
X	53377714	C	A	C53377714A	SMC1A	NM_006306.4(SMC1A):c.*2389G>T	noncoding	Benign
X	53378561	A	G	A53378561G	SMC1A	NM_006306.4(SMC1A):c.*1542T>C	noncoding	Benign
X	53378864	A	G	A53378864G	SMC1A	NM_001281463.1(SMC1A):c.*1239T>C	noncoding	Benign
X	53379172	T	C	T53379172C	SMC1A	NM_006306.4(SMC1A):c.*931A>G	noncoding	Benign
X	53380122	G	A	G53380122A	SMC1A	NM_006306.4(SMC1A):c.3683C>T:p.Pro1228Leu	coding	Benign
X	53380647	G	A	G53380647A	SMC1A	NM_001281463.1(SMC1A):c.3525C>T:p.Ala1175=	coding	Benign/Likely_benign
X	53381028	T	G	T53381028G	SMC1A	NM_006306.4(SMC1A):c.3497A>C:p.Asn1166Thr	coding	Pathogenic
X	53381075	G	A	G53381075A	SMC1A	NM_001281463.1(SMC1A):c.3384C>T:p.Ala1128=	coding	Benign/Likely_benign
X	53381094	G	A	G53381094A	SMC1A	NM_006306.4(SMC1A):c.3438-7C>T	noncoding	Benign
X	53382537	T	C	T53382537C	SMC1A	NM_001281463.1(SMC1A):c.3188A>G:p.Tyr1063Cys	coding	Pathogenic/Likely_pathogenic
X	53382594	C	T	C53382594T	SMC1A	NM_001281463.1(SMC1A):c.3131G>A:p.Arg1044His	coding	Pathogenic/Likely_pathogenic
X	53382595	G	A	G53382595A	SMC1A	NM_001281463.1(SMC1A):c.3130C>T:p.Arg1044Cys	coding	Pathogenic
X	53382640	G	A	G53382640A	SMC1A	NM_001281463.1(SMC1A):c.3085C>T:p.Arg1029Ter	coding	Pathogenic
X	53383112	G	A	G53383112A	SMC1A	NM_006306.4(SMC1A):c.3115C>T:p.Gln1039Ter	coding	Pathogenic
X	53383124	G	A	G53383124A	SMC1A	NM_001281463.1(SMC1A):c.3037C>T:p.Arg1013Ter	coding	Pathogenic
X	53383205	G	A	G53383205A	SMC1A	NM_006306.4(SMC1A):c.3022C>T:p.Gln1008Ter	coding	Pathogenic
X	53383255	T	C	T53383255C	SMC1A	NM_001281463.1(SMC1A):c.2908-2A>G	noncoding	Pathogenic
X	53394733	C	T	C53394733T	SMC1A	NM_001281463.1(SMC1A):c.2907+45G>A	noncoding	Benign
X	53396265	G	A	G53396265A	SMC1A	NM_001281463.1(SMC1A):c.2758C>T:p.Leu920=	coding	Benign/Likely_benign
X	53396489	T	C	T53396489C	SMC1A	NM_006306.4(SMC1A):c.2691A>G:p.Lys897=	coding	Benign
X	53396497	G	C	G53396497C	SMC1A	NM_006306.4(SMC1A):c.2683C>G:p.Arg895Gly	coding	Pathogenic
X	53399588	C	T	C53399588T	SMC1A	NM_001281463.1(SMC1A):c.2496+1G>A	noncoding	Pathogenic
X	53403617	C	T	C53403617T	SMC1A	NM_001281463.1(SMC1A):c.2303G>A:p.Arg768Gln	coding	Pathogenic
X	53403618	G	A	G53403618A	SMC1A	NM_001281463.1(SMC1A):c.2302C>T:p.Arg768Trp	coding	Pathogenic/Likely_pathogenic
X	53403635	A	G	A53403635G	SMC1A	NM_001281463.1(SMC1A):c.2285T>C:p.Ile762Thr	coding	Pathogenic/Likely_pathogenic
X	53403657	A	G	A53403657G	SMC1A	NM_001281463.1(SMC1A):c.2263T>C:p.Phe755Leu	coding	Pathogenic
X	53403818	G	A	G53403818A	SMC1A	NM_001281463.1(SMC1A):c.2206C>T:p.Arg736Ter	coding	Pathogenic
X	53403893	C	A	C53403893A	SMC1A	NM_006306.4(SMC1A):c.2197G>T:p.Glu733Ter	coding	Pathogenic
X	53403898	A	G	A53403898G	SMC1A	NM_001281463.1(SMC1A):c.2131-5T>C	noncoding	Benign/Likely_benign
X	53405047	G	A	G53405047A	SMC1A	NM_006306.4(SMC1A):c.2161C>T:p.Gln721Ter	coding	Pathogenic
X	53405077	G	A	G53405077A	SMC1A	NM_001281463.1(SMC1A):c.2065C>T:p.Arg689Trp	coding	Pathogenic
X	53405268	C	A	C53405268A	SMC1A	NM_001281463.1(SMC1A):c.1969G>T:p.Glu657Ter	coding	Pathogenic
X	53405492	C	A	C53405492A	SMC1A	NM_006306.4(SMC1A):c.1911+1G>T	noncoding	Pathogenic
X	53405674	T	C	T53405674C	SMC1A	NM_001281463.1(SMC1A):c.1666-2A>G	coding	Pathogenic
X	53405804	C	T	C53405804T	SMC1A	NM_001281463.1(SMC1A):c.1632G>A:p.Glu544=	coding	Benign
X	53409103	C	T	C53409103T	SMC1A	NM_001281463.1(SMC1A):c.1438G>A:p.Glu480Lys	coding	Pathogenic
X	53409120	C	T	C53409120T	SMC1A	NM_001281463.1(SMC1A):c.1421G>A:p.Arg474His	coding	Pathogenic
X	53409129	T	G	T53409129G	SMC1A	NM_001281463.1(SMC1A):c.1412A>C:p.Glu471Ala	coding	Pathogenic
X	53409412	G	A	G53409412A	SMC1A	NM_006306.4(SMC1A):c.1337+9C>T	noncoding	Benign
X	53409435	G	A	G53409435A	SMC1A	NM_001281463.1(SMC1A):c.1257C>T:p.Tyr419=	coding	Benign/Likely_benign
X	53411822	C	T	C53411822T	SMC1A	NM_001281463.1(SMC1A):c.1127G>A:p.Arg376Gln	coding	Pathogenic
X	53411823	G	A	G53411823A	SMC1A	NM_001281463.1(SMC1A):c.1126C>T:p.Arg376Ter	coding	Pathogenic
X	53411842	C	T	C53411842T	SMC1A	NM_001281463.1(SMC1A):c.1107G>A:p.Gln369=	coding	Benign
X	53411903	T	C	T53411903C	SMC1A	NM_001281463.1(SMC1A):c.1048-2A>G	noncoding	Pathogenic
X	53412998	G	A	G53412998A	SMC1A	NM_006306.4(SMC1A):c.756C>T:p.Asp252=	coding	Benign
X	53413055	C	T	C53413055T	SMC1A	NM_001281463.1(SMC1A):c.633G>A:p.Val211=	coding	Benign
X	53413132	G	C	G53413132C	SMC1A	NM_001281463.1(SMC1A):c.556C>G:p.Arg186Gly	coding	Pathogenic
X	53413140	T	C	T53413140C	SMC1A	NM_001281463.1(SMC1A):c.550-2A>G	noncoding	Pathogenic
X	53413144	C	T	C53413144T	SMC1A	NM_001281463.1(SMC1A):c.550-6G>A	noncoding	Benign/Likely_benign
X	53413230	A	G	A53413230G	SMC1A	NM_006306.4(SMC1A):c.615+2T>C	noncoding	Pathogenic
X	53413260	C	T	C53413260T	SMC1A	NM_001281463.1(SMC1A):c.521G>A:p.Arg174His	coding	Pathogenic
X	53413261	G	A	G53413261A	SMC1A	NM_001281463.1(SMC1A):c.520C>T:p.Arg174Cys	coding	Pathogenic
X	53413300	G	A	G53413300A	SMC1A	NM_001281463.1(SMC1A):c.481C>T:p.Gln161Ter	coding	Pathogenic
X	53413445	G	A	G53413445A	SMC1A	NM_001281463.1(SMC1A):c.346-10C>T	noncoding	Benign
X	53414772	A	C	A53414772C	SMC1A	NM_006306.4(SMC1A):c.397T>G:p.Phe133Val	coding	Pathogenic
X	53415158	G	A	G53415158A	SMC1A	NM_001281463.1(SMC1A):c.55C>T:p.Leu19Phe	coding	Pathogenic
X	53415163	G	C	G53415163C	SMC1A	NM_001281463.1(SMC1A):c.50C>G:p.Ser17Ter	coding	Pathogenic
X	53422619	G	A	G53422619A	SMC1A	NM_001281463.1(SMC1A):c.-231C>T	noncoding	Benign
X	53431445	C	G	C53431445G	HSD17B10	NM_001037811.2(HSD17B10):c.718G>C:p.Glu240Gln	coding	Pathogenic
X	53431450	T	C	T53431450C	HSD17B10	NM_001037811.2(HSD17B10):c.713A>G:p.Asn238Ser	coding	Pathogenic
X	53431513	C	T	C53431513T	HSD17B10	NM_001037811.2(HSD17B10):c.650G>A:p.Arg217Gln	coding	Pathogenic
X	53431556	T	C	T53431556C	HSD17B10	NM_001037811.2(HSD17B10):c.607A>G:p.Lys203Glu	coding	Pathogenic
X	53431819	G	T	G53431819T	HSD17B10	NM_001037811.2(HSD17B10):c.568+6C>A	coding	Pathogenic
X	53432086	G	A	G53432086A	HSD17B10	NM_001037811.2(HSD17B10):c.388C>T:p.Arg130Cys	coding	Pathogenic
X	53432110	G	C	G53432110C	HSD17B10	NM_001037811.2(HSD17B10):c.364C>G:p.Leu122Val	coding	Pathogenic
X	53432347	T	C	T53432347C	HSD17B10	NM_001037811.2(HSD17B10):c.257A>G:p.Asp86Gly	coding	Pathogenic
X	53433858	G	C	G53433858C	HSD17B10	NM_004493.3(HSD17B10):c.56C>G:p.Ala19Gly	coding	Pathogenic
X	53534101	C	G	C53534101G	HUWE1	NM_031407.7(HUWE1):c.12928G>C:p.Gly4310Arg	coding	Pathogenic
X	53534126	T	C	T53534126C	HUWE1	NM_031407.7(HUWE1):c.12903A>G:p.Thr4301=	coding	Benign
X	53534656	A	G	A53534656G	HUWE1	NM_031407.7(HUWE1):c.12691T>C:p.Tyr4231His	coding	Pathogenic
X	53534667	A	G	A53534667G	HUWE1	NM_031407.7(HUWE1):c.12680T>C:p.Leu4227Ser	coding	Pathogenic
X	53534675	C	T	C53534675T	HUWE1	NM_031407.7(HUWE1):c.12672G>A:p.Ala4224=	coding	Benign
X	53534703	G	A	G53534703A	HUWE1	NM_031407.7(HUWE1):c.12650-6C>T	noncoding	Benign/Likely_benign
X	53535451	G	C	G53535451C	HUWE1	NM_031407.7(HUWE1):c.12582C>G:p.Ala4194=	coding	Benign
X	53536397	G	C	G53536397C	HUWE1	NM_031407.7(HUWE1):c.12408C>G:p.Ile4136Met	coding	Pathogenic
X	53536475	G	A	G53536475A	HUWE1	NM_031407.7(HUWE1):c.12330C>T:p.Val4110=	coding	Benign
X	53536617	C	T	C53536617T	HUWE1	NM_031407.7(HUWE1):c.12188G>A:p.Arg4063Gln	coding	Pathogenic
X	53536628	A	G	A53536628G	HUWE1	NM_031407.7(HUWE1):c.12177T>C:p.Gly4059=	coding	Benign
X	53537547	G	A	G53537547A	HUWE1	NM_031407.7(HUWE1):c.12137+9C>T	noncoding	Benign
X	53538423	T	C	T53538423C	HUWE1	NM_031407.7(HUWE1):c.11910A>G:p.Leu3970=	coding	Benign/Likely_benign
X	53542516	C	T	C53542516T	HUWE1	NM_031407.7(HUWE1):c.11403G>A:p.Ala3801=	coding	Benign
X	53546527	G	C	G53546527C	HUWE1	NM_031407.7(HUWE1):c.10824C>G:p.Leu3608=	coding	Benign/Likely_benign
X	53546755	A	G	A53546755G	HUWE1	NM_031407.7(HUWE1):c.10707T>C:p.Phe3569=	coding	Benign
X	53546791	C	T	C53546791T	HUWE1	NM_031407.7(HUWE1):c.10671G>A:p.Ala3557=	coding	Benign
X	53547698	G	C	G53547698C	HUWE1	NM_031407.7(HUWE1):c.10611C>G:p.Pro3537=	coding	Benign
X	53547758	C	A	C53547758A	HUWE1	NM_031407.7(HUWE1):c.10551G>T:p.Leu3517=	coding	Benign
X	53547812	G	A	G53547812A	HUWE1	NM_031407.7(HUWE1):c.10497C>T:p.Ser3499=	coding	Benign
X	53547875	G	A	G53547875A	HUWE1	NM_031407.7(HUWE1):c.10434C>T:p.Ser3478=	coding	Benign
X	53548031	G	A	G53548031A	HUWE1	NM_031407.7(HUWE1):c.10278C>T:p.Leu3426=	coding	Benign/Likely_benign
X	53548208	C	T	C53548208T	HUWE1	NM_031407.7(HUWE1):c.10101G>A:p.Arg3367=	coding	Benign
X	53549418	T	A	T53549418A	HUWE1	NM_031407.7(HUWE1):c.9576A>T:p.Leu3192=	coding	Benign
X	53550722	G	C	G53550722C	HUWE1	NM_031407.7(HUWE1):c.9432C>G:p.Arg3144=	coding	Benign
X	53550926	T	C	T53550926C	HUWE1	NM_031407.7(HUWE1):c.9360A>G:p.Ala3120=	coding	Benign
X	53551073	A	G	A53551073G	HUWE1	NM_031407.7(HUWE1):c.9213T>C:p.Arg3071=	coding	Benign
X	53551077	C	T	C53551077T	HUWE1	NM_031407.7(HUWE1):c.9209G>A:p.Arg3070His	coding	Pathogenic
X	53551078	G	A	G53551078A	HUWE1	NM_031407.7(HUWE1):c.9208C>T:p.Arg3070Cys	coding	Pathogenic/Likely_pathogenic
X	53551398	C	T	C53551398T	HUWE1	NM_031407.7(HUWE1):c.8964G>A:p.Gln2988=	coding	Benign
X	53552646	A	C	A53552646C	HUWE1	NM_031407.7(HUWE1):c.8742T>G:p.Pro2914=	coding	Benign
X	53552694	C	T	C53552694T	HUWE1	NM_031407.7(HUWE1):c.8694G>A:p.Ala2898=	coding	Benign
X	53554829	T	C	T53554829C	HUWE1	NM_031407.7(HUWE1):c.8298A>G:p.Gln2766=	coding	Benign/Likely_benign
X	53562864	T	C	T53562864C	HUWE1	NM_031407.7(HUWE1):c.7171A>G:p.Ser2391Gly	coding	Benign
X	53573790	T	C	T53573790C	HUWE1	NM_031407.7(HUWE1):c.6272A>G:p.Asn2091Ser	coding	Benign
X	53575148	T	G	T53575148G	HUWE1	NM_031407.7(HUWE1):c.6097+7A>C	noncoding	Benign
X	53575225	A	T	A53575225T	HUWE1	NM_031407.7(HUWE1):c.6031-4T>A	noncoding	Benign
X	53575721	A	G	A53575721G	HUWE1	NM_031407.7(HUWE1):c.5952T>C:p.Gly1984=	coding	Benign
X	53575796	A	G	A53575796G	HUWE1	NM_031407.7(HUWE1):c.5885-8T>C	noncoding	Benign
X	53580826	C	T	C53580826T	HUWE1	NM_031407.7(HUWE1):c.5716+5G>A	noncoding	Benign
X	53580961	G	A	G53580961A	HUWE1	NM_031407.7(HUWE1):c.5586C>T:p.Leu1862=	coding	Benign
X	53584322	T	C	T53584322C	HUWE1	NM_031407.7(HUWE1):c.5025A>G:p.Arg1675=	coding	Benign
X	53585030	T	C	T53585030C	HUWE1	NM_031407.7(HUWE1):c.4983A>G:p.Gln1661=	coding	Benign/Likely_benign
X	53585071	T	A	T53585071A	HUWE1	NM_031407.7(HUWE1):c.4942A>T:p.Ser1648Cys	coding	Benign
X	53588493	G	A	G53588493A	HUWE1	NM_031407.7(HUWE1):c.4503C>T:p.Pro1501=	coding	Benign/Likely_benign
X	53592458	T	C	T53592458C	HUWE1	NM_031407.7(HUWE1):c.3912A>G:p.Thr1304=	coding	Benign
X	53593355	A	T	A53593355T	HUWE1	NM_031407.7(HUWE1):c.3741+9T>A	noncoding	Benign
X	53593391	T	A	T53593391A	HUWE1	NM_031407.7(HUWE1):c.3714A>T:p.Ala1238=	coding	Benign
X	53603460	T	C	T53603460C	HUWE1	NM_031407.7(HUWE1):c.2784A>G:p.Gln928=	coding	Benign
X	53608926	G	T	G53608926T	HUWE1	NM_031407.7(HUWE1):c.2262-17C>A	noncoding	Benign
X	53614524	A	C	A53614524C	HUWE1	NM_031407.7(HUWE1):c.2261+10T>G	noncoding	Benign
X	53614579	T	C	T53614579C	HUWE1	NM_031407.7(HUWE1):c.2216A>G:p.Gln739Arg	coding	Benign
X	53614686	T	C	T53614686C	HUWE1	NM_031407.7(HUWE1):c.2109A>G:p.Ser703=	coding	Benign
X	53627429	T	C	T53627429C	HUWE1	NM_031407.7(HUWE1):c.1470A>G:p.Glu490=	coding	Benign/Likely_benign
X	53627451	T	C	T53627451C	HUWE1	NM_031407.7(HUWE1):c.1448A>G:p.Asn483Ser	coding	Benign
X	53628489	G	A	G53628489A	HUWE1	NM_031407.7(HUWE1):c.1242+4C>T	noncoding	Benign
X	53634235	C	G	C53634235G	HUWE1	NM_031407.7(HUWE1):c.567+1G>C	noncoding	Pathogenic
X	53645404	G	C	G53645404C	HUWE1	NM_031407.7(HUWE1):c.411C>G:p.Leu137=	coding	Benign/Likely_benign
X	53647390	C	T	C53647390T	HUWE1	NM_031407.7(HUWE1):c.329G>A:p.Arg110Gln	coding	Pathogenic
X	53648257	T	C	T53648257C	HUWE1	NM_031407.7(HUWE1):c.99A>G:p.Gln33=	coding	Benign
X	53648284	G	C	G53648284C	HUWE1	NM_031407.7(HUWE1):c.72C>G:p.Asp24Glu	coding	Benign
X	53940446	C	T	C53940446T	PHF8	NM_015107.3(PHF8):c.2720G>A:p.Arg907His	coding	Benign/Likely_benign
X	53940453	G	A	G53940453A	PHF8	NM_015107.3(PHF8):c.2713C>T:p.Gln905Ter	coding	Pathogenic
X	53985226	C	T	C53985226T	PHF8	NM_015107.3(PHF8):c.2131G>A:p.Glu711Lys	coding	Benign/Likely_benign
X	53985957	A	G	A53985957G	PHF8	NM_015107.3(PHF8):c.1996-8T>C	noncoding	Benign
X	53993612	G	A	G53993612A	PHF8	NM_015107.3(PHF8):c.1615C>T:p.Gln539Ter	coding	Pathogenic
X	54002150	C	G	C54002150G	PHF8	NM_015107.3(PHF8):c.1141+5G>C	noncoding	Pathogenic
X	54011232	A	G	A54011232G	PHF8	NM_015107.3(PHF8):c.836T>C:p.Phe279Ser	coding	Pathogenic
X	54014529	G	A	G54014529A	PHF8	NM_015107.3(PHF8):c.631C>T:p.Arg211Ter	coding	Pathogenic
X	54014554	G	A	G54014554A	PHF8	NM_015107.3(PHF8):c.606C>T:p.Asn202=	coding	Benign
X	54016662	T	A	T54016662A	PHF8	NM_015107.3(PHF8):c.529A>T:p.Lys177Ter	coding	Pathogenic
X	54017674	A	C	A54017674C	PHF8	NM_015107.3(PHF8):c.441T>G:p.Val147=	coding	Benign
X	54022333	A	T	A54022333T	PHF8	NM_015107.3(PHF8):c.219T>A:p.Asp73Glu	coding	Benign/Likely_benign
X	54042729	C	T	C54042729T	PHF8	NM_015107.3(PHF8):c.-1G>A	coding	Benign
X	54091307	C	A	C54091307A	FAM120C	NM_017848.6(FAM120C):c.2427+5G>T	noncoding	Benign
X	54132771	T	C	T54132771C	FAM120C	NM_017848.6(FAM120C):c.1983A>G:p.Val661=	coding	Benign
X	54237327	G	C	G54237327C	WNK3	NM_020922.4(WNK3):c.4239C>G:p.Pro1413=	coding	Benign
X	54249511	A	G	A54249511G	WNK3	NM_020922.4(WNK3):c.2837T>C:p.Ile946Thr	coding	Benign
X	54249609	T	C	T54249609C	WNK3	NM_020922.4(WNK3):c.2739A>G:p.Glu913=	coding	Benign
X	54255821	G	T	G54255821T	WNK3	NM_020922.4(WNK3):c.2169C>A:p.Gly723=	coding	Benign
X	54255833	T	C	T54255833C	WNK3	NM_020922.4(WNK3):c.2157A>G:p.Pro719=	coding	Benign
X	54255878	T	A	T54255878A	WNK3	NM_020922.4(WNK3):c.2112A>T:p.Gln704His	coding	Benign
X	54294656	G	A	G54294656A	WNK3	NM_020922.4(WNK3):c.1590C>T:p.Pro530=	coding	Benign
X	54298334	C	T	C54298334T	WNK3	NM_020922.4(WNK3):c.1239G>A:p.Val413=	coding	Benign
X	54443418	A	G	A54443418G	TSR2	NM_058163.3(TSR2):c.191A>G:p.Glu64Gly	coding	Pathogenic
X	54443461	T	C	T54443461C	TSR2	NM_058163.3(TSR2):c.234T>C:p.Asp78=	coding	Benign
X	54446073	G	A	G54446073A	FGD1	NM_004463.3(FGD1):c.*36C>T	noncoding	Benign
X	54446238	C	T	C54446238T	FGD1	NM_004463.3(FGD1):c.2757G>A:p.Ala919=	coding	Benign/Likely_benign
X	54446376	G	A	G54446376A	FGD1	NM_004463.3(FGD1):c.2619C>T:p.Phe873=	coding	Benign/Likely_benign
X	54446420	G	A	G54446420A	FGD1	NM_004463.3(FGD1):c.2581-6C>T	noncoding	Benign
X	54447323	G	A	G54447323A	FGD1	NM_004463.3(FGD1):c.2568C>T:p.Tyr856=	coding	Benign/Likely_benign
X	54449149	G	A	G54449149A	FGD1	NM_004463.3(FGD1):c.2268C>T:p.Cys756=	coding	Benign/Likely_benign
X	54449194	C	T	C54449194T	FGD1	NM_004463.3(FGD1):c.2223G>A:p.Glu741=	coding	Benign
X	54449266	G	A	G54449266A	FGD1	NM_004463.3(FGD1):c.2151C>T:p.Asn717=	coding	Benign
X	54449671	T	C	T54449671C	FGD1	NM_004463.3(FGD1):c.2136A>G:p.Pro712=	coding	Benign
X	54449716	A	G	A54449716G	FGD1	NM_004463.3(FGD1):c.2091T>C:p.Thr697=	coding	Benign
X	54450274	G	A	G54450274A	FGD1	NM_004463.3(FGD1):c.2043C>T:p.Val681=	coding	Benign
X	54450303	T	C	T54450303C	FGD1	NM_004463.3(FGD1):c.2016-2A>G	noncoding	Pathogenic
X	54455400	C	G	C54455400G	FGD1	NM_004463.3(FGD1):c.2015+48G>C	noncoding	Benign
X	54455497	G	A	G54455497A	FGD1	NM_004463.3(FGD1):c.1966C>T:p.Arg656Ter	coding	Pathogenic
X	54455785	C	T	C54455785T	FGD1	NM_004463.3(FGD1):c.1843-1G>A	coding	Pathogenic
X	54456233	C	T	C54456233T	FGD1	NM_004463.3(FGD1):c.1829G>A:p.Arg610Gln	coding	Pathogenic
X	54456331	C	T	C54456331T	FGD1	NM_004463.3(FGD1):c.1731G>A:p.Leu577=	coding	Benign
X	54456508	C	T	C54456508T	FGD1	NM_004463.3(FGD1):c.1695+1G>A	noncoding	Pathogenic
X	54465430	G	A	G54465430A	FGD1	NM_004463.3(FGD1):c.1636+21C>T	noncoding	Benign
X	54465450	C	T	C54465450T	FGD1	NM_004463.3(FGD1):c.1636+1G>A	noncoding	Pathogenic
X	54465470	C	T	C54465470T	FGD1	NM_004463.3(FGD1):c.1617G>A:p.Pro539=	coding	Benign/Likely_benign
X	54465497	A	T	A54465497T	FGD1	NM_004463.3(FGD1):c.1590T>A:p.Tyr530Ter	coding	Pathogenic
X	54465522	C	T	C54465522T	FGD1	NM_004463.3(FGD1):c.1565G>A:p.Arg522His	coding	Pathogenic
X	54465725	G	A	G54465725A	FGD1	NM_004463.3(FGD1):c.1468C>T:p.Gln490Ter	coding	Pathogenic
X	54465729	G	A	G54465729A	FGD1	NM_004463.3(FGD1):c.1464C>T:p.Ser488=	coding	Benign
X	54465741	C	T	C54465741T	FGD1	NM_004463.3(FGD1):c.1452G>A:p.Trp484Ter	coding	Pathogenic
X	54465753	C	G	C54465753G	FGD1	NM_004463.3(FGD1):c.1440G>C:p.Leu480=	coding	Benign
X	54465797	T	C	T54465797C	FGD1	NM_004463.3(FGD1):c.1396A>G:p.Met466Val	coding	Pathogenic
X	54465801	G	A	G54465801A	FGD1	NM_004463.3(FGD1):c.1392C>T:p.Leu464=	coding	Benign
X	54467775	G	A	G54467775A	FGD1	NM_004463.3(FGD1):c.1340+9C>T	noncoding	Benign
X	54467796	C	A	C54467796A	FGD1	NM_004463.3(FGD1):c.1328G>T:p.Arg443Leu	coding	Pathogenic
X	54467837	A	C	A54467837C	FGD1	NM_004463.3(FGD1):c.1287T>G:p.Tyr429Ter	coding	Pathogenic
X	54467901	C	T	C54467901T	FGD1	NM_004463.3(FGD1):c.1223G>A:p.Arg408Gln	coding	Pathogenic
X	54470120	G	A	G54470120A	FGD1	NM_004463.3(FGD1):c.997C>T:p.Gln333Ter	coding	Pathogenic
X	54470175	G	T	G54470175T	FGD1	NM_004463.3(FGD1):c.942C>A:p.Pro314=	coding	Benign
X	54470441	C	T	C54470441T	FGD1	NM_004463.3(FGD1):c.676G>A:p.Ala226Thr	coding	Benign/Likely_benign
X	54470556	A	G	A54470556G	FGD1	NM_004463.3(FGD1):c.659+27T>C	noncoding	Benign
X	54470665	G	A	G54470665A	FGD1	NM_004463.3(FGD1):c.577C>T:p.Arg193Ter	coding	Pathogenic
X	54470741	G	A	G54470741A	FGD1	NM_004463.3(FGD1):c.501C>T:p.Tyr167=	coding	Benign
X	54470770	C	T	C54470770T	FGD1	NM_004463.3(FGD1):c.482-10G>A	noncoding	Benign
X	54471400	C	T	C54471400T	FGD1	NM_004463.3(FGD1):c.395G>A:p.Arg132Gln	coding	Benign/Likely_benign
X	54495199	G	A	G54495199A	FGD1	NM_004463.3(FGD1):c.234C>T:p.Pro78=	coding	Benign
X	54495258	G	A	G54495258A	FGD1	NM_004463.3(FGD1):c.175C>T:p.Gln59Ter	coding	Pathogenic
X	54495323	G	A	G54495323A	FGD1	NM_004463.3(FGD1):c.110C>T:p.Ala37Val	coding	Benign
X	54495348	C	G	C54495348G	FGD1	NM_004463.3(FGD1):c.85G>C:p.Ala29Pro	coding	Benign/Likely_benign
X	54495436	C	G	C54495436G	FGD1	NM_004463.3(FGD1):c.-4G>C	noncoding	Benign
X	54755008	C	A	C54755008A	ITIH6	NM_198510.3(ITIH6):c.3202+9G>T	noncoding	Benign
X	54757697	G	A	G54757697A	ITIH6	NM_198510.3(ITIH6):c.2377C>T:p.Gln793Ter	coding	Pathogenic
X	54758335	C	T	C54758335T	ITIH6	NM_198510.3(ITIH6):c.1739G>A:p.Arg580His	coding	Benign
X	54809806	A	G	A54809806G	MAGED2	NM_177433.3(MAGED2):c.130A>G:p.Lys44Glu	coding	Benign/Likely_benign
X	54809883	C	T	C54809883T	MAGED2	NM_177433.3(MAGED2):c.207C>T:p.Val69=	coding	Benign
X	54809901	T	C	T54809901C	MAGED2	NM_177433.3(MAGED2):c.225T>C:p.Ala75=	coding	Benign
X	54810073	A	T	A54810073T	MAGED2	NM_177433.3(MAGED2):c.397A>T:p.Lys133Ter	coding	Pathogenic
X	54810844	G	C	G54810844C	MAGED2	NM_177433.3(MAGED2):c.561G>C:p.Glu187Asp	coding	Benign
X	54811099	A	G	A54811099G	MAGED2	NM_177433.3(MAGED2):c.816A>G:p.Pro272=	coding	Benign
X	54811290	C	T	C54811290T	MAGED2	NM_177433.3(MAGED2):c.887C>T:p.Thr296Met	coding	Benign
X	54811565	C	A	C54811565A	MAGED2	NM_177433.3(MAGED2):c.911-9C>A	noncoding	Benign
X	54812155	A	G	A54812155G	MAGED2	NM_177433.3(MAGED2):c.991-2A>G	noncoding	Pathogenic
X	54812204	C	G	C54812204G	MAGED2	NM_177433.3(MAGED2):c.1038C>G:p.Tyr346Ter	coding	Pathogenic
X	54812996	C	T	C54812996T	MAGED2	NM_177433.3(MAGED2):c.1137C>T:p.Ile379=	coding	Benign
X	54814725	C	T	C54814725T	MAGED2	NM_177433.3(MAGED2):c.1336C>T:p.Arg446Cys	coding	Pathogenic
X	54815292	G	A	G54815292A	MAGED2	NM_177433.3(MAGED2):c.1431G>A:p.Glu477=	coding	Benign
X	54930069	C	T	C54930069T	TRO	NM_001039705.3(TRO):c.3345C>T:p.Thr1115=	coding	Benign
X	55001565	C	T	C55001565T	APEX2	NM_014481.4(APEX2):c.177C>T:p.Pro59=	coding	Benign
X	55002258	C	T	C55002258T	APEX2	NM_014481.4(APEX2):c.249C>T:p.Ala83=	coding	Benign
X	55006805	A	G	A55006805G	APEX2	NM_014481.4(APEX2):c.927A>G:p.Ala309=	coding	Benign
X	55009056	G	A	G55009056A	ALAS2	NM_000032.5(ALAS2):c.*124C>T	noncoding	Benign
X	55009124	T	G	T55009124G	ALAS2	NM_000032.5(ALAS2):c.*56A>C	noncoding	Benign
X	55009242	T	C	T55009242C	ALAS2	NM_000032.5(ALAS2):c.1702A>G:p.Ser568Gly	coding	Pathogenic
X	55009245	T	C	T55009245C	ALAS2	NM_000032.5(ALAS2):c.1699A>G:p.Met567Val	coding	Pathogenic
X	55009268	C	T	C55009268T	ALAS2	NM_000032.5(ALAS2):c.1676G>A:p.Arg559His	coding	Benign/Likely_benign
X	55009297	A	G	A55009297G	ALAS2	NM_000032.5(ALAS2):c.1647T>C:p.Asp549=	coding	Benign
X	55009302	G	A	G55009302A	ALAS2	NM_000032.5(ALAS2):c.1642C>T:p.Gln548Ter	coding	Pathogenic
X	55009318	C	T	C55009318T	ALAS2	NM_000032.5(ALAS2):c.1626G>A:p.Ala542=	coding	Benign
X	55013171	T	C	T55013171C	ALAS2	NM_000032.5(ALAS2):c.1600+315A>G	noncoding	Benign
X	55013516	G	C	G55013516C	ALAS2	NM_000032.5(ALAS2):c.1570C>G:p.His524Asp	coding	Pathogenic
X	55013519	G	A	G55013519A	ALAS2	NM_000032.5(ALAS2):c.1567C>T:p.His523Tyr	coding	Benign
X	55013664	A	C	A55013664C	ALAS2	NM_000032.5(ALAS2):c.1438-16T>G	noncoding	Benign
X	55013667	C	G	C55013667G	ALAS2	NM_000032.5(ALAS2):c.1438-19G>C	noncoding	Benign
X	55014748	C	T	C55014748T	ALAS2	NM_000032.5(ALAS2):c.1436G>A:p.Arg479Gln	coding	Benign/Likely_benign
X	55014757	A	T	A55014757T	ALAS2	NM_000032.5(ALAS2):c.1427T>A:p.Ile476Asn	coding	Pathogenic
X	55014829	C	T	C55014829T	ALAS2	NM_000032.5(ALAS2):c.1355G>A:p.Arg452His	coding	Pathogenic
X	55014830	G	A	G55014830A	ALAS2	NM_000032.5(ALAS2):c.1354C>T:p.Arg452Cys	coding	Pathogenic
X	55014863	C	T	C55014863T	ALAS2	NM_000032.5(ALAS2):c.1321G>A:p.Glu441Lys	coding	Benign
X	55014953	G	A	G55014953A	ALAS2	NM_000032.5(ALAS2):c.1231C>T:p.Arg411Cys	coding	Pathogenic
X	55015000	C	T	C55015000T	ALAS2	NM_000032.5(ALAS2):c.1184G>A:p.Cys395Tyr	coding	Pathogenic
X	55015579	A	C	A55015579C	ALAS2	NM_000032.5(ALAS2):c.1167T>G:p.Leu389=	coding	Benign
X	55015583	G	C	G55015583C	ALAS2	NM_000032.5(ALAS2):c.1163C>G:p.Thr388Ser	coding	Pathogenic
X	55015639	G	A	G55015639A	ALAS2	NM_000032.5(ALAS2):c.1107C>T:p.Gly369=	coding	Benign
X	55015654	C	T	C55015654T	ALAS2	NM_000032.5(ALAS2):c.1092G>A:p.Leu364=	coding	Benign
X	55015684	G	C	G55015684C	ALAS2	NM_000032.5(ALAS2):c.1062C>G:p.Thr354=	coding	Benign
X	55017594	T	G	T55017594G	ALAS2	NM_000032.5(ALAS2):c.895A>C:p.Lys299Gln	coding	Pathogenic
X	55017618	C	T	C55017618T	ALAS2	NM_000032.5(ALAS2):c.871G>A:p.Gly291Ser	coding	Pathogenic
X	55017661	G	A	G55017661A	ALAS2	NM_000032.5(ALAS2):c.828C>T:p.Cys276=	coding	Benign/Likely_benign
X	55017680	G	A	G55017680A	ALAS2	NM_000032.5(ALAS2):c.824-15C>T	noncoding	Benign
X	55021084	C	T	C55021084T	ALAS2	NM_000032.5(ALAS2):c.606G>A:p.Met202Ile	coding	Pathogenic
X	55021095	A	G	A55021095G	ALAS2	NM_000032.5(ALAS2):c.595T>C:p.Tyr199His	coding	Pathogenic
X	55021121	T	A	T55021121A	ALAS2	NM_000032.5(ALAS2):c.569A>T:p.Asp190Val	coding	Pathogenic
X	55021176	C	T	C55021176T	ALAS2	NM_000032.5(ALAS2):c.514G>A:p.Ala172Thr	coding	Pathogenic
X	55021182	G	T	G55021182T	ALAS2	NM_000032.5(ALAS2):c.508C>A:p.Arg170Ser	coding	Pathogenic
X	55021195	G	T	G55021195T	ALAS2	NM_000032.5(ALAS2):c.495C>A:p.Phe165Leu	coding	Pathogenic
X	55021215	C	A	C55021215A	ALAS2	NM_000032.5(ALAS2):c.475G>T:p.Asp159Tyr	coding	Pathogenic
X	55021215	C	T	C55021215T	ALAS2	NM_000032.5(ALAS2):c.475G>A:p.Asp159Asn	coding	Pathogenic
X	55021308	G	A	G55021308A	ALAS2	NM_000032.5(ALAS2):c.416-34C>T	noncoding	Benign
X	55023560	T	C	T55023560C	ALAS2	NM_000032.5(ALAS2):c.415+197A>G	noncoding	Benign
X	55023875	G	C	G55023875C	ALAS2	NM_000032.5(ALAS2):c.305-8C>G	noncoding	Benign
X	55024740	T	C	T55024740C	ALAS2	NM_000032.5(ALAS2):c.282A>G:p.Glu94=	coding	Benign
X	55024791	G	T	G55024791T	ALAS2	NM_000032.5(ALAS2):c.231C>A:p.Leu77=	coding	Benign/Likely_benign
X	55024824	C	T	C55024824T	ALAS2	NM_000032.5(ALAS2):c.198G>A:p.Ala66=	coding	Benign
X	55024825	G	A	G55024825A	ALAS2	NM_000032.5(ALAS2):c.197C>T:p.Ala66Val	coding	Benign
X	55027805	C	T	C55027805T	ALAS2	NM_000032.5(ALAS2):c.-15-1790G>A	coding	Benign
X	55488448	T	C	T55488448C	USP51	NM_201286.3(USP51):c.492A>G:p.Arg164=	coding	Benign
X	55488927	G	A	G55488927A	USP51	NM_201286.3(USP51):c.13C>T:p.Arg5Ter	coding	Pathogenic
X	55755837	A	G	A55755837G	RRAGB	NM_006064.5(RRAGB):c.736-4A>G	noncoding	Benign
X	56265323	G	T	G56265323T	KLF8	NM_007250.5(KLF8):c.225G>T:p.Leu75Phe	coding	Benign
X	56265420	A	G	A56265420G	KLF8	NM_007250.5(KLF8):c.322A>G:p.Ile108Val	coding	Benign
X	56265749	G	A	G56265749A	KLF8	NM_007250.5(KLF8):c.646+5G>A	noncoding	Benign
X	56563711	G	T	G56563711T	UBQLN2	NM_013444.3(UBQLN2):c.-163G>T	noncoding	Benign/Likely_benign
X	56564452	C	T	C56564452T	UBQLN2	NM_013444.3(UBQLN2):c.579C>T:p.Ser193=	coding	Benign
X	56565147	A	G	A56565147G	UBQLN2	NM_013444.4(UBQLN2):c.1274A>G:p.Gln425Arg	coding	Pathogenic
X	56565256	G	A	G56565256A	UBQLN2	NM_013444.3(UBQLN2):c.1383G>A:p.Gly461=	coding	Benign/Likely_benign
X	56565389	C	A	C56565389A	UBQLN2	NM_013444.3(UBQLN2):c.1516C>A:p.Pro506Thr	coding	Pathogenic
X	56565588	C	T	C56565588T	UBQLN2	NM_013444.3(UBQLN2):c.1715C>T:p.Ala572Val	coding	Benign
X	57286949	C	T	C57286949T	FAAH2	NM_174912.3(FAAH2):c.124C>T:p.Arg42Trp	coding	Benign
X	57448510	A	T	A57448510T	FAAH2	NM_174912.3(FAAH2):c.1229-14A>T	noncoding	Benign
X	57448699	T	C	T57448699C	FAAH2	NM_174912.3(FAAH2):c.1404T>C:p.Pro468=	coding	Benign
X	63644019	G	A	G63644019A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1351C>T:p.Gln451Ter	coding	Pathogenic
X	63644097	A	C	A63644097C	ARHGEF9	NM_001353921.2(ARHGEF9):c.1322-49T>G	noncoding	Benign
X	63674038	C	T	C63674038T	ARHGEF9	NM_001353921.2(ARHGEF9):c.945G>A:p.Glu315=	coding	Pathogenic
X	63674044	G	C	G63674044C	ARHGEF9	NM_001353921.2(ARHGEF9):c.939C>G:p.Asp313Glu	coding	Benign/Likely_benign
X	63674061	G	A	G63674061A	ARHGEF9	NM_001353921.2(ARHGEF9):c.922C>T:p.Gln308Ter	coding	Pathogenic
X	63674063	C	T	C63674063T	ARHGEF9	NM_001353921.2(ARHGEF9):c.920G>A:p.Trp307Ter	coding	Pathogenic
X	63674097	G	A	G63674097A	ARHGEF9	NM_001353921.2(ARHGEF9):c.886C>T:p.Arg296Ter	coding	Pathogenic
X	63678408	T	G	T63678408G	ARHGEF9	NM_001353921.2(ARHGEF9):c.747A>C:p.Pro249=	coding	Benign/Likely_benign
X	63697124	C	T	C63697124T	ARHGEF9	NM_001353921.2(ARHGEF9):c.582+1G>A	noncoding	Pathogenic
X	63706328	C	T	C63706328T	ARHGEF9	NM_001353921.2(ARHGEF9):c.332G>A:p.Arg111Gln	coding	Pathogenic
X	63706445	C	T	C63706445T	ARHGEF9	NM_001353921.2(ARHGEF9):c.215G>A:p.Trp72Ter	coding	Pathogenic
X	63724557	C	G	C63724557G	ARHGEF9	NM_001353921.2(ARHGEF9):c.185G>C:p.Gly62Ala	coding	Pathogenic
X	63724564	C	A	C63724564A	ARHGEF9	NM_001353921.2(ARHGEF9):c.178G>T:p.Glu60Ter	coding	Pathogenic
X	63785117	A	G	A63785117G	ARHGEF9	NM_001353921.2(ARHGEF9):c.29T>C:p.Met10Thr	coding	Benign
X	63785142	G	A	G63785142A	ARHGEF9	NM_001353921.2(ARHGEF9):c.4C>T:p.Gln2Ter	coding	Pathogenic
X	64189879	C	T	C64189879T	AMER1	NM_152424.4(AMER1):c.3408G>A:p.Ter1136=	coding	Benign/Likely_benign
X	64189951	C	T	C64189951T	AMER1	NM_152424.4(AMER1):c.3336G>A:p.Glu1112=	coding	Benign
X	64190014	C	T	C64190014T	AMER1	NM_152424.4(AMER1):c.3273G>A:p.Arg1091=	coding	Benign
X	64190016	G	A	G64190016A	AMER1	NM_152424.4(AMER1):c.3271C>T:p.Arg1091Trp	coding	Benign
X	64190292	T	C	T64190292C	AMER1	NM_152424.4(AMER1):c.2995A>G:p.Met999Val	coding	Benign
X	64190308	G	C	G64190308C	AMER1	NM_152424.4(AMER1):c.2979C>G:p.Thr993=	coding	Benign
X	64190354	T	C	T64190354C	AMER1	NM_152424.4(AMER1):c.2933A>G:p.Asn978Ser	coding	Benign
X	64190636	G	A	G64190636A	AMER1	NM_152424.4(AMER1):c.2651C>T:p.Pro884Leu	coding	Benign/Likely_benign
X	64190767	G	A	G64190767A	AMER1	NM_152424.4(AMER1):c.2520C>T:p.Ala840=	coding	Benign
X	64190854	G	A	G64190854A	AMER1	NM_152424.4(AMER1):c.2433C>T:p.Ile811=	coding	Benign
X	64190914	G	A	G64190914A	AMER1	NM_152424.4(AMER1):c.2373C>T:p.Asp791=	coding	Benign
X	64191095	T	C	T64191095C	AMER1	NM_152424.4(AMER1):c.2192A>G:p.Asp731Gly	coding	Benign
X	64191112	A	C	A64191112C	AMER1	NM_152424.4(AMER1):c.2175T>G:p.Asp725Glu	coding	Benign
X	64191130	C	T	C64191130T	AMER1	NM_152424.4(AMER1):c.2157G>A:p.Met719Ile	coding	Benign
X	64191258	A	G	A64191258G	AMER1	NM_152424.4(AMER1):c.2029T>C:p.Ser677Pro	coding	Benign
X	64191336	C	T	C64191336T	AMER1	NM_152424.4(AMER1):c.1951G>A:p.Val651Ile	coding	Benign
X	64191351	G	A	G64191351A	AMER1	NM_152424.4(AMER1):c.1936C>T:p.Arg646Trp	coding	Benign
X	64191401	T	C	T64191401C	AMER1	NM_152424.4(AMER1):c.1886A>G:p.Gln629Arg	coding	Benign
X	64191414	T	C	T64191414C	AMER1	NM_152424.4(AMER1):c.1873A>G:p.Thr625Ala	coding	Benign
X	64191491	T	C	T64191491C	AMER1	NM_152424.4(AMER1):c.1796A>G:p.Tyr599Cys	coding	Benign/Likely_benign
X	64191676	G	A	G64191676A	AMER1	NM_152424.4(AMER1):c.1611C>T:p.Asp537=	coding	Benign
X	64192150	G	A	G64192150A	AMER1	NM_152424.4(AMER1):c.1137C>T:p.Asp379=	coding	Benign
X	64192195	G	A	G64192195A	AMER1	NM_152424.4(AMER1):c.1092C>T:p.Thr364=	coding	Benign
X	64192215	G	A	G64192215A	AMER1	NM_152424.4(AMER1):c.1072C>T:p.Arg358Ter	coding	Pathogenic
X	64192230	G	A	G64192230A	AMER1	NM_152424.4(AMER1):c.1057C>T:p.Arg353Ter	coding	Pathogenic
X	64192364	G	T	G64192364T	AMER1	NM_152424.4(AMER1):c.923C>A:p.Pro308Gln	coding	Benign
X	64192379	C	T	C64192379T	AMER1	NM_152424.4(AMER1):c.908G>A:p.Gly303Asp	coding	Benign
X	64192404	C	T	C64192404T	AMER1	NM_152424.4(AMER1):c.883G>A:p.Ala295Thr	coding	Benign
X	64192411	C	G	C64192411G	AMER1	NM_152424.4(AMER1):c.876G>C:p.Lys292Asn	coding	Benign
X	64192455	C	A	C64192455A	AMER1	NM_152424.4(AMER1):c.832G>T:p.Ala278Ser	coding	Benign/Likely_benign
X	64192476	G	A	G64192476A	AMER1	NM_152424.4(AMER1):c.811C>T:p.Gln271Ter	coding	Pathogenic
X	64192545	G	T	G64192545T	AMER1	NM_152424.4(AMER1):c.742C>A:p.Pro248Thr	coding	Benign
X	64192590	C	A	C64192590A	AMER1	NM_152424.4(AMER1):c.697G>T:p.Asp233Tyr	coding	Benign
X	64192716	C	A	C64192716A	AMER1	NM_152424.4(AMER1):c.571G>T:p.Glu191Ter	coding	Pathogenic
X	64192722	G	A	G64192722A	AMER1	NM_152424.4(AMER1):c.565C>T:p.Gln189Ter	coding	Pathogenic
X	64192858	A	T	A64192858T	AMER1	NM_152424.4(AMER1):c.429T>A:p.Cys143Ter	coding	Pathogenic
X	64192886	T	G	T64192886G	AMER1	NM_152424.4(AMER1):c.401A>C:p.His134Pro	coding	Benign/Likely_benign
X	64192907	A	G	A64192907G	AMER1	NM_152424.4(AMER1):c.380T>C:p.Phe127Ser	coding	Benign
X	64192976	T	C	T64192976C	AMER1	NM_152424.4(AMER1):c.311A>G:p.His104Arg	coding	Benign
X	64193002	G	C	G64193002C	AMER1	NM_152424.4(AMER1):c.285C>G:p.Thr95=	coding	Benign
X	64917804	C	T	C64917804T	ZC4H2	NM_018684.4(ZC4H2):c.654G>A:p.Pro218=	coding	Benign
X	64917808	T	C	T64917808C	ZC4H2	NM_018684.4(ZC4H2):c.650A>G:p.Lys217Arg	coding	Pathogenic
X	64917821	G	A	G64917821A	ZC4H2	NM_018684.4(ZC4H2):c.637C>T:p.Arg213Trp	coding	Pathogenic
X	64917843	A	T	A64917843T	ZC4H2	NM_018684.4(ZC4H2):c.615T>A:p.Leu205=	coding	Benign
X	64917857	G	A	G64917857A	ZC4H2	NM_018684.4(ZC4H2):c.601C>T:p.Pro201Ser	coding	Pathogenic
X	64917860	C	T	C64917860T	ZC4H2	NM_018684.4(ZC4H2):c.598G>A:p.Ala200Thr	coding	Pathogenic
X	64917865	C	T	C64917865T	ZC4H2	NM_018684.4(ZC4H2):c.593G>A:p.Arg198Gln	coding	Pathogenic
X	64917866	G	A	G64917866A	ZC4H2	NM_018684.4(ZC4H2):c.592C>T:p.Arg198Trp	coding	Pathogenic/Likely_pathogenic
X	64917866	G	T	G64917866T	ZC4H2	NM_018684.4(ZC4H2):c.592C>A:p.Arg198=	coding	Benign
X	64919075	C	T	C64919075T	ZC4H2	NM_018684.4(ZC4H2):c.528G>A:p.Thr176=	coding	Benign
X	64919119	C	T	C64919119T	ZC4H2	NM_018684.4(ZC4H2):c.484G>A:p.Ala162Thr	coding	Benign
X	64919126	G	A	G64919126A	ZC4H2	NM_018684.4(ZC4H2):c.477C>T:p.Ala159=	coding	Benign
X	64919171	T	C	T64919171C	ZC4H2	NM_018684.4(ZC4H2):c.432A>G:p.Thr144=	coding	Benign
X	64919176	G	A	G64919176A	ZC4H2	NM_018684.4(ZC4H2):c.427C>T:p.Gln143Ter	coding	Pathogenic/Likely_pathogenic
X	64919177	C	T	C64919177T	ZC4H2	NM_018684.4(ZC4H2):c.426G>A:p.Trp142Ter	coding	Pathogenic
X	64919191	G	A	G64919191A	ZC4H2	NM_018684.4(ZC4H2):c.412C>T:p.Gln138Ter	coding	Pathogenic
X	64921815	A	G	A64921815G	ZC4H2	NM_018684.4(ZC4H2):c.225+2T>C	noncoding	Pathogenic
X	64921843	G	A	G64921843A	ZC4H2	NM_018684.4(ZC4H2):c.199C>T:p.Arg67Ter	coding	Pathogenic/Likely_pathogenic
X	64921845	A	T	A64921845T	ZC4H2	NM_018684.4(ZC4H2):c.197T>A:p.Leu66His	coding	Pathogenic
X	64921855	C	G	C64921855G	ZC4H2	NM_018684.4(ZC4H2):c.187G>C:p.Val63Leu	coding	Pathogenic
X	64921894	G	A	G64921894A	ZC4H2	NM_018684.4(ZC4H2):c.148C>T:p.Gln50Ter	coding	Pathogenic
X	64921975	G	A	G64921975A	ZC4H2	NM_018684.4(ZC4H2):c.67C>T:p.Gln23Ter	coding	Pathogenic
X	64921979	G	A	G64921979A	ZC4H2	NM_018684.4(ZC4H2):c.63C>T:p.Thr21=	coding	Benign
X	64976325	C	T	C64976325T	ZC4H2	NM_018684.4(ZC4H2):c.53G>A:p.Arg18Lys	coding	Pathogenic
X	65489127	A	G	A65489127G	ZC3H12B	NM_001010888.3(ZC3H12B):c.326A>G:p.Gln109Arg	coding	Benign
X	65502090	G	A	G65502090A	ZC3H12B	NM_001010888.3(ZC3H12B):c.1392G>A:p.Ser464=	coding	Benign
X	65518021	T	G	T65518021G	LAS1L	NM_031206.6(LAS1L):c.1893A>C:p.Gly631=	coding	Benign
X	65524087	G	A	G65524087A	LAS1L	NM_031206.6(LAS1L):c.1269C>T:p.Thr423=	coding	Benign
X	65716908	C	T	C65716908T	MSN	NM_002444.3(MSN):c.96+7C>T	noncoding	Benign
X	65731150	C	T	C65731150T	MSN	NM_002444.3(MSN):c.511C>T:p.Arg171Trp	coding	Pathogenic
X	65737200	G	A	G65737200A	MSN	NM_002444.3(MSN):c.1113G>A:p.Arg371=	coding	Benign
X	65739032	A	G	A65739032G	MSN	NM_002444.3(MSN):c.1407A>G:p.Thr469=	coding	Benign
X	65739816	C	T	C65739816T	MSN	NM_002444.3(MSN):c.1657C>T:p.Arg553Ter	coding	Pathogenic
X	66022315	G	A	G66022315A	VSIG4	NM_007268.3(VSIG4):c.1148C>T:p.Thr383Ile	coding	Benign
X	66032759	A	C	A66032759C	VSIG4	NM_007268.3(VSIG4):c.413-10T>G	noncoding	Benign
X	66033612	C	A	C66033612A	VSIG4	NM_007268.3(VSIG4):c.274G>T:p.Val92Phe	coding	Benign
X	66197877	G	A	G66197877A	HEPH	NM_014799.4(HEPH):c.895G>A:p.Gly299Ser	coding	Benign
X	66599652	C	T	C66599652T	EDA2R	NM_021783.5(EDA2R):c.726G>A:p.Glu242=	coding	Benign
X	66615942	G	A	G66615942A	EDA2R	NM_021783.5(EDA2R):c.79C>T:p.Leu27=	coding	Benign
X	66615999	A	G	A66615999G	EDA2R	NM_021783.5(EDA2R):c.22T>C:p.Tyr8His	coding	Benign
X	67545150	G	A	G67545150A	AR	NM_000044.6(AR):c.4G>A:p.Glu2Lys	coding	Pathogenic
X	67545324	C	T	C67545324T	AR	NM_000044.6(AR):c.178C>T:p.Gln60Ter	coding	Pathogenic
X	67545360	C	T	C67545360T	AR	NM_000044.6(AR):c.214C>T:p.Gln72Ter	coding	Pathogenic
X	67545363	C	T	C67545363T	AR	NM_000044.6(AR):c.217C>T:p.Gln73Ter	coding	Pathogenic
X	67545366	C	T	C67545366T	AR	NM_000044.6(AR):c.220C>T:p.Gln74Ter	coding	Pathogenic
X	67545375	C	T	C67545375T	AR	NM_000044.6(AR):c.229C>T:p.Gln77Ter	coding	Pathogenic
X	67545414	C	T	C67545414T	AR	NM_000044.6(AR):c.268C>T:p.Gln90Ter	coding	Pathogenic
X	67545417	C	T	C67545417T	AR	NM_000044.6(AR):c.271C>T:p.Gln91Ter	coding	Pathogenic
X	67545438	C	T	C67545438T	AR	NM_000044.6(AR):c.292C>T:p.Gln98Ter	coding	Pathogenic
X	67545467	C	A	C67545467A	AR	NM_000044.6(AR):c.321C>A:p.Tyr107Ter	coding	Pathogenic
X	67545539	C	A	C67545539A	AR	NM_000044.6(AR):c.393C>A:p.Cys131Ter	coding	Pathogenic
X	67545609	G	T	G67545609T	AR	NM_000044.6(AR):c.463G>T:p.Glu155Ter	coding	Pathogenic
X	67545621	G	A	G67545621A	AR	NM_000044.6(AR):c.475G>A:p.Ala159Thr	coding	Pathogenic
X	67545667	T	G	T67545667G	AR	NM_000044.6(AR):c.521T>G:p.Leu174Ter	coding	Pathogenic
X	67545674	C	A	C67545674A	AR	NM_000044.6(AR):c.528C>A:p.Ser176Arg	coding	Benign
X	67545782	G	A	G67545782A	AR	NM_000044.6(AR):c.636G>A:p.Arg212=	coding	Benign
X	67545785	G	A	G67545785A	AR	NM_000044.6(AR):c.639G>A:p.Glu213=	coding	Benign
X	67545792	G	A	G67545792A	AR	NM_000044.6(AR):c.646G>A:p.Gly216Arg	coding	Benign
X	67545889	G	T	G67545889T	AR	NM_000044.6(AR):c.743G>T:p.Gly248Val	coding	Pathogenic
X	67546011	G	T	G67546011T	AR	NM_000044.6(AR):c.865G>T:p.Glu289Ter	coding	Pathogenic
X	67546331	C	A	C67546331A	AR	NM_000044.6(AR):c.1185C>A:p.Tyr395Ter	coding	Pathogenic
X	67546589	C	G	C67546589G	AR	NM_000044.6(AR):c.1443C>G:p.Tyr481Ter	coding	Pathogenic
X	67546682	G	A	G67546682A	AR	NM_000044.6(AR):c.1536G>A:p.Val512=	coding	Benign
X	67546751	C	A	C67546751A	AR	NM_000044.6(AR):c.1605C>A:p.Tyr535Ter	coding	Pathogenic
X	67643284	C	T	C67643284T	AR	NM_000044.6(AR):c.1645C>T:p.Pro549Ser	coding	Pathogenic
X	67643327	G	A	G67643327A	AR	NM_000044.6(AR):c.1688G>A:p.Cys563Tyr	coding	Pathogenic
X	67643354	A	G	A67643354G	AR	NM_000044.6(AR):c.1715A>G:p.Tyr572Cys	coding	Pathogenic
X	67643371	G	A	G67643371A	AR	NM_000044.6(AR):c.1732G>A:p.Gly578Arg	coding	Pathogenic
X	67643378	G	A	G67643378A	AR	NM_000044.6(AR):c.1739G>A:p.Cys580Tyr	coding	Pathogenic
X	67643378	G	T	G67643378T	AR	NM_000044.6(AR):c.1739G>T:p.Cys580Phe	coding	Pathogenic
X	67643387	T	A	T67643387A	AR	NM_000044.6(AR):c.1748T>A:p.Phe583Tyr	coding	Pathogenic
X	67686012	A	T	A67686012T	AR	NM_000044.6(AR):c.1771A>T:p.Lys591Ter	coding	Pathogenic
X	67686030	G	A	G67686030A	AR	NM_000044.6(AR):c.1789G>A:p.Ala597Thr	coding	Pathogenic
X	67686045	T	G	T67686045G	AR	NM_000044.6(AR):c.1804T>G:p.Cys602Gly	coding	Pathogenic
X	67686063	C	T	C67686063T	AR	NM_000044.6(AR):c.1822C>T:p.Arg608Ter	coding	Pathogenic
X	67686064	G	A	G67686064A	AR	NM_000044.6(AR):c.1823G>A:p.Arg608Gln	coding	Pathogenic/Likely_pathogenic
X	67686067	G	A	G67686067A	AR	NM_000044.6(AR):c.1826G>A:p.Arg609Lys	coding	Pathogenic
X	67686087	C	T	C67686087T	AR	NM_000044.6(AR):c.1846C>T:p.Arg616Cys	coding	Pathogenic
X	67686088	G	A	G67686088A	AR	NM_000044.6(AR):c.1847G>A:p.Arg616His	coding	Pathogenic
X	67711342	G	A	G67711342A	AR	NM_000044.6(AR):c.1886-60G>A	noncoding	Benign
X	67711401	G	A	G67711401A	AR	NM_000044.6(AR):c.1886-1G>A	noncoding	Pathogenic
X	67711413	A	T	A67711413T	AR	NM_000044.6(AR):c.1897A>T:p.Lys633Ter	coding	Pathogenic
X	67711459	G	A	G67711459A	AR	NM_000044.6(AR):c.1943G>A:p.Ser648Asn	coding	Pathogenic
X	67711549	T	C	T67711549C	AR	NM_000044.6(AR):c.2033T>C:p.Leu678Pro	coding	Pathogenic
X	67711560	G	A	G67711560A	AR	NM_000044.6(AR):c.2044G>A:p.Glu682Lys	coding	Pathogenic
X	67711585	A	C	A67711585C	AR	NM_000044.6(AR):c.2069A>C:p.His690Pro	coding	Pathogenic
X	67711602	G	A	G67711602A	AR	NM_000044.6(AR):c.2086G>A:p.Asp696Asn	coding	Pathogenic
X	67711620	C	T	C67711620T	AR	NM_000044.6(AR):c.2104C>T:p.Leu702Phe	coding	Pathogenic
X	67711633	A	G	A67711633G	AR	NM_000044.6(AR):c.2117A>G:p.Asn706Ser	coding	Pathogenic
X	67711639	T	G	T67711639G	AR	NM_000044.6(AR):c.2123T>G:p.Leu708Arg	coding	Pathogenic
X	67711644	G	A	G67711644A	AR	NM_000044.6(AR):c.2128G>A:p.Glu710Lys	coding	Pathogenic
X	67711653	C	T	C67711653T	AR	NM_000044.6(AR):c.2137C>T:p.Leu713Phe	coding	Pathogenic
X	67711671	T	C	T67711671C	AR	NM_000044.6(AR):c.2155T>C:p.Trp719Arg	coding	Pathogenic
X	67711673	G	A	G67711673A	AR	NM_000044.6(AR):c.2157G>A:p.Trp719Ter	coding	Pathogenic
X	67711680	G	A	G67711680A	AR	NM_000044.6(AR):c.2164G>A:p.Ala722Thr	coding	Pathogenic
X	67711687	C	T	C67711687T	AR	NM_000044.6(AR):c.2171C>T:p.Pro724Leu	coding	Pathogenic
X	67717480	T	C	T67717480C	AR	NM_000044.6(AR):c.2176T>C:p.Phe726Leu	coding	Pathogenic
X	67717484	G	T	G67717484T	AR	NM_000044.6(AR):c.2180G>T:p.Arg727Leu	coding	Pathogenic
X	67717495	G	A	G67717495A	AR	NM_000044.6(AR):c.2191G>A:p.Val731Met	coding	Pathogenic
X	67717526	C	G	C67717526G	AR	NM_000044.6(AR):c.2222C>G:p.Ser741Cys	coding	Pathogenic
X	67717532	T	A	T67717532A	AR	NM_000044.6(AR):c.2228T>A:p.Met743Lys	coding	Pathogenic
X	67717535	G	A	G67717535A	AR	NM_000044.6(AR):c.2231G>A:p.Gly744Glu	coding	Pathogenic
X	67717535	G	T	G67717535T	AR	NM_000044.6(AR):c.2231G>T:p.Gly744Val	coding	Pathogenic
X	67717552	A	G	A67717552G	AR	NM_000044.6(AR):c.2248A>G:p.Met750Val	coding	Pathogenic
X	67717561	C	T	C67717561T	AR	NM_000044.6(AR):c.2257C>T:p.Arg753Ter	coding	Pathogenic
X	67717562	G	A	G67717562A	AR	NM_000044.6(AR):c.2258G>A:p.Arg753Gln	coding	Pathogenic
X	67717595	A	G	A67717595G	AR	NM_000044.6(AR):c.2291A>G:p.Tyr764Cys	coding	Pathogenic
X	67717600	G	A	G67717600A	AR	NM_000044.6(AR):c.2296G>A:p.Ala766Thr	coding	Pathogenic
X	67717601	C	A	C67717601A	AR	NM_000044.6(AR):c.2297C>A:p.Ala766Asp	coding	Pathogenic
X	67717603	C	G	C67717603G	AR	NM_000044.6(AR):c.2299C>G:p.Pro767Ala	coding	Pathogenic
X	67717618	A	C	A67717618C	AR	NM_000044.6(AR):c.2314A>C:p.Asn772His	coding	Pathogenic
X	67717623	G	C	G67717623C	AR	NM_000044.6(AR):c.2318+1G>C	coding	Pathogenic
X	67721837	C	T	C67721837T	AR	NM_000044.6(AR):c.2323C>T:p.Arg775Cys	coding	Pathogenic
X	67721838	G	A	G67721838A	AR	NM_000044.6(AR):c.2324G>A:p.Arg775His	coding	Pathogenic
X	67721857	G	A	G67721857A	AR	NM_000044.6(AR):c.2343G>A:p.Met781Ile	coding	Pathogenic
X	67721857	G	T	G67721857T	AR	NM_000044.6(AR):c.2343G>T:p.Met781Ile	coding	Pathogenic
X	67721873	C	T	C67721873T	AR	NM_000044.6(AR):c.2359C>T:p.Arg787Ter	coding	Pathogenic
X	67721876	A	G	A67721876G	AR	NM_000044.6(AR):c.2362A>G:p.Met788Val	coding	Pathogenic
X	67721905	G	A	G67721905A	AR	NM_000044.6(AR):c.2391G>A:p.Trp797Ter	coding	Pathogenic
X	67721937	T	C	T67721937C	AR	NM_000044.6(AR):c.2423T>C:p.Met808Thr	coding	Pathogenic
X	67721952	T	C	T67721952C	AR	NM_000044.6(AR):c.2438T>C:p.Leu813Pro	coding	Pathogenic
X	67721968	G	T	G67721968T	AR	NM_000044.6(AR):c.2449+5G>T	noncoding	Pathogenic
X	67722821	C	G	C67722821G	AR	NM_000044.6(AR):c.2450-6C>G	noncoding	Pathogenic
X	67722826	G	A	G67722826A	AR	NM_000044.6(AR):c.2450-1G>A	noncoding	Pathogenic
X	67722872	G	A	G67722872A	AR	NM_000044.6(AR):c.2495G>A:p.Arg832Gln	coding	Pathogenic
X	67722884	T	G	T67722884G	AR	NM_000044.6(AR):c.2507T>G:p.Ile836Ser	coding	Pathogenic
X	67722894	C	T	C67722894T	AR	NM_000044.6(AR):c.2517C>T:p.Leu839=	coding	Benign
X	67722898	C	T	C67722898T	AR	NM_000044.6(AR):c.2521C>T:p.Arg841Cys	coding	Pathogenic
X	67722899	G	A	G67722899A	AR	NM_000044.6(AR):c.2522G>A:p.Arg841His	coding	Pathogenic
X	67722905	T	C	T67722905C	AR	NM_000044.6(AR):c.2528T>C:p.Ile843Thr	coding	Pathogenic
X	67722943	C	T	C67722943T	AR	NM_000044.6(AR):c.2566C>T:p.Arg856Cys	coding	Pathogenic
X	67722944	G	A	G67722944A	AR	NM_000044.6(AR):c.2567G>A:p.Arg856His	coding	Pathogenic
X	67722944	G	T	G67722944T	AR	NM_000044.6(AR):c.2567G>T:p.Arg856Leu	coding	Pathogenic
X	67722948	C	G	C67722948G	AR	NM_000044.6(AR):c.2571C>G:p.Phe857Leu	coding	Pathogenic
X	67722970	G	A	G67722970A	AR	NM_000044.6(AR):c.2593G>A:p.Asp865Asn	coding	Pathogenic
X	67722973	T	C	T67722973C	AR	NM_000044.6(AR):c.2596T>C:p.Ser866Pro	coding	Pathogenic
X	67722976	G	A	G67722976A	AR	NM_000044.6(AR):c.2599G>A:p.Val867Met	coding	Pathogenic
X	67722976	G	T	G67722976T	AR	NM_000044.6(AR):c.2599G>T:p.Val867Leu	coding	Pathogenic
X	67723688	T	G	T67723688G	AR	NM_000044.6(AR):c.2610T>G:p.Ile870Met	coding	Pathogenic
X	67723690	C	T	C67723690T	AR	NM_000044.6(AR):c.2612C>T:p.Ala871Val	coding	Pathogenic
X	67723701	C	T	C67723701T	AR	NM_000044.6(AR):c.2623C>T:p.His875Tyr	coding	Pathogenic
X	67723710	A	G	A67723710G	AR	NM_000044.6(AR):c.2632A>G:p.Thr878Ala	coding	Pathogenic
X	67723711	C	G	C67723711G	AR	NM_000044.6(AR):c.2633C>G:p.Thr878Ser	coding	Pathogenic
X	67723728	A	T	A67723728T	AR	NM_000044.6(AR):c.2650A>T:p.Lys884Ter	coding	Pathogenic
X	67723745	C	T	C67723745T	AR	NM_000044.6(AR):c.2667C>T:p.Ser889=	coding	Pathogenic
X	67723746	G	A	G67723746A	AR	NM_000044.6(AR):c.2668G>A:p.Val890Met	coding	Pathogenic
X	67723756	C	T	C67723756T	AR	NM_000044.6(AR):c.2678C>T:p.Pro893Leu	coding	Pathogenic
X	67723786	A	G	A67723786G	AR	NM_000044.6(AR):c.2708A>G:p.Gln903Arg	coding	Pathogenic
X	68048534	C	A	C68048534A	OPHN1	NM_002547.3(OPHN1):c.2376-77G>T	noncoding	Benign
X	68052553	G	A	G68052553A	OPHN1	NM_002547.3(OPHN1):c.2362C>T:p.Arg788Trp	coding	Benign/Likely_benign
X	68053635	C	A	C68053635A	OPHN1	NM_002547.3(OPHN1):c.2324+10G>T	noncoding	Benign
X	68063933	C	T	C68063933T	OPHN1	NM_002547.3(OPHN1):c.2079G>A:p.Met693Ile	coding	Benign/Likely_benign
X	68063956	G	A	G68063956A	OPHN1	NM_002547.3(OPHN1):c.2056C>T:p.Pro686Ser	coding	Benign/Likely_benign
X	68064173	T	C	T68064173C	OPHN1	NM_002547.3(OPHN1):c.1839A>G:p.Glu613=	coding	Benign/Likely_benign
X	68073151	C	A	C68073151A	OPHN1	NM_002547.3(OPHN1):c.1834+1G>T	noncoding	Pathogenic
X	68073187	G	A	G68073187A	OPHN1	NM_002547.3(OPHN1):c.1799C>T:p.Thr600Met	coding	Benign
X	68073237	T	G	T68073237G	OPHN1	NM_002547.3(OPHN1):c.1749A>C:p.Ala583=	coding	Benign
X	68111891	G	A	G68111891A	OPHN1	NM_002547.3(OPHN1):c.1489C>T:p.Arg497Ter	coding	Pathogenic
X	68192949	G	A	G68192949A	OPHN1	NM_002547.3(OPHN1):c.1246C>T:p.Gln416Ter	coding	Pathogenic
X	68193950	C	A	C68193950A	OPHN1	NM_002547.3(OPHN1):c.1141G>T:p.Glu381Ter	coding	Pathogenic
X	68194464	C	T	C68194464T	OPHN1	NM_002547.3(OPHN1):c.1138+1G>A	noncoding	Pathogenic
X	68201636	G	A	G68201636A	OPHN1	NM_002547.3(OPHN1):c.1008C>T:p.Asp336=	coding	Benign
X	68206603	C	G	C68206603G	OPHN1	NM_002547.3(OPHN1):c.903G>C:p.Thr301=	coding	Benign
X	68206604	G	A	G68206604A	OPHN1	NM_002547.3(OPHN1):c.902C>T:p.Thr301Met	coding	Benign
X	68211972	A	G	A68211972G	OPHN1	NM_002547.3(OPHN1):c.702+136T>C	noncoding	Benign
X	68212079	C	T	C68212079T	OPHN1	NM_002547.3(OPHN1):c.702+29G>A	noncoding	Benign
X	68213963	G	A	G68213963A	OPHN1	NM_002547.3(OPHN1):c.496C>T:p.Gln166Ter	coding	Pathogenic
X	68299014	A	G	A68299014G	OPHN1	NM_002547.3(OPHN1):c.237T>C:p.Asp79=	coding	Benign
X	68299067	G	A	G68299067A	OPHN1	NM_002547.3(OPHN1):c.184C>T:p.Gln62Ter	coding	Pathogenic
X	68299098	T	G	T68299098G	OPHN1	NM_002547.3(OPHN1):c.155-2A>C	noncoding	Pathogenic
X	68432671	A	G	A68432671G	OPHN1	NM_002547.3(OPHN1):c.154+196T>C	noncoding	Benign
X	68432888	C	T	C68432888T	OPHN1	NM_002547.3(OPHN1):c.133G>A:p.Ala45Thr	coding	Benign/Likely_benign
X	68432906	C	T	C68432906T	OPHN1	NM_002547.3(OPHN1):c.115G>A:p.Val39Ile	coding	Benign
X	68521385	G	C	G68521385C	YIPF6	NM_173834.4(YIPF6):c.322G>C:p.Asp108His	coding	Benign
X	68718078	A	G	A68718078G	STARD8	NM_001142503.2(STARD8):c.1164A>G:p.Leu388=	coding	Benign
X	68718198	A	C	A68718198C	STARD8	NM_001142503.2(STARD8):c.1284A>C:p.Glu428Asp	coding	Benign
X	68721696	G	A	G68721696A	STARD8	NM_001142503.2(STARD8):c.2409G>A:p.Ala803=	coding	Benign
X	68722075	A	C	A68722075C	STARD8	NM_001142503.2(STARD8):c.2488A>C:p.Arg830=	coding	Benign
X	68829885	T	G	T68829885G	EFNB1	NM_004429.4(EFNB1):c.109T>G:p.Trp37Gly	coding	Pathogenic
X	68829886	G	A	G68829886A	EFNB1	NM_004429.4(EFNB1):c.110G>A:p.Trp37Ter	coding	Pathogenic
X	68829906	T	A	T68829906A	EFNB1	NM_004429.4(EFNB1):c.128+2T>A	noncoding	Pathogenic
X	68838630	A	T	A68838630T	EFNB1	NM_004429.4(EFNB1):c.142A>T:p.Lys48Ter	coding	Pathogenic
X	68838649	C	T	C68838649T	EFNB1	NM_004429.4(EFNB1):c.161C>T:p.Pro54Leu	coding	Pathogenic/Likely_pathogenic
X	68838684	C	T	C68838684T	EFNB1	NM_004429.4(EFNB1):c.196C>T:p.Arg66Ter	coding	Pathogenic
X	68838707	T	G	T68838707G	EFNB1	NM_004429.4(EFNB1):c.219T>G:p.Tyr73Ter	coding	Pathogenic
X	68838741	C	T	C68838741T	EFNB1	NM_004429.4(EFNB1):c.253C>T:p.Gln85Ter	coding	Pathogenic
X	68838820	C	T	C68838820T	EFNB1	NM_004429.4(EFNB1):c.332C>T:p.Thr111Ile	coding	Pathogenic
X	68839708	G	A	G68839708A	EFNB1	NM_004429.4(EFNB1):c.451G>A:p.Gly151Ser	coding	Pathogenic
X	68839709	G	T	G68839709T	EFNB1	NM_004429.4(EFNB1):c.452G>T:p.Gly151Val	coding	Pathogenic
X	68839729	A	G	A68839729G	EFNB1	NM_004429.4(EFNB1):c.472A>G:p.Met158Val	coding	Pathogenic
X	68839731	G	T	G68839731T	EFNB1	NM_004429.4(EFNB1):c.474G>T:p.Met158Ile	coding	Pathogenic
X	68839753	C	T	C68839753T	EFNB1	NM_004429.4(EFNB1):c.496C>T:p.Gln166Ter	coding	Pathogenic
X	68839969	C	T	C68839969T	EFNB1	NM_004429.4(EFNB1):c.509C>T:p.Ala170Val	coding	Benign
X	68840026	T	C	T68840026C	EFNB1	NM_004429.4(EFNB1):c.566T>C:p.Val189Ala	coding	Benign
X	68840253	C	T	C68840253T	EFNB1	NM_004429.4(EFNB1):c.640C>T:p.Gln214Ter	coding	Pathogenic
X	68840372	C	T	C68840372T	EFNB1	NM_004429.4(EFNB1):c.759C>T:p.Leu253=	coding	Benign
X	68840504	C	T	C68840504T	EFNB1	NM_004429.4(EFNB1):c.891C>T:p.Thr297=	coding	Benign
X	69161322	G	C	G69161322C	PJA1	NM_022368.5(PJA1):c.1353C>G:p.Phe451Leu	coding	Benign
X	69161954	C	T	C69161954T	PJA1	NM_022368.5(PJA1):c.721G>A:p.Ala241Thr	coding	Benign
X	69162823	A	G	A69162823G	PJA1	NM_022368.5(PJA1):c.293+123T>C	coding	Benign
X	69616310	T	C	T69616310C	EDA	NM_001399.5(EDA):c.2T>C:p.Met1Thr	coding	Pathogenic
X	69616375	C	T	C69616375T	EDA	NM_001399.5(EDA):c.67C>T:p.Gln23Ter	coding	Pathogenic
X	69616488	C	A	C69616488A	EDA	NM_001399.5(EDA):c.180C>A:p.Cys60Ter	coding	Pathogenic
X	69616491	C	G	C69616491G	EDA	NM_001399.5(EDA):c.183C>G:p.Tyr61Ter	coding	Pathogenic
X	69616495	G	A	G69616495A	EDA	NM_001399.5(EDA):c.187G>A:p.Glu63Lys	coding	Pathogenic
X	69616501	C	G	C69616501G	EDA	NM_001399.5(EDA):c.193C>G:p.Arg65Gly	coding	Pathogenic
X	69616637	C	A	C69616637A	EDA	NM_001399.5(EDA):c.329C>A:p.Ser110Ter	coding	Pathogenic
X	69616655	T	A	T69616655A	EDA	NM_001399.5(EDA):c.347T>A:p.Leu116Ter	coding	Pathogenic
X	69616689	C	T	C69616689T	EDA	NM_001399.5(EDA):c.381C>T:p.Ser127=	coding	Benign
X	69616698	G	T	G69616698T	EDA	NM_001399.5(EDA):c.390G>T:p.Gly130=	coding	Benign
X	69616705	G	A	G69616705A	EDA	NM_001399.5(EDA):c.396+1G>A	coding	Pathogenic
X	69616706	T	C	T69616706C	EDA	NM_001399.5(EDA):c.396+2T>C	noncoding	Pathogenic
X	69616706	T	G	T69616706G	EDA	NM_001399.5(EDA):c.396+2T>G	noncoding	Pathogenic
X	69957087	C	T	C69957087T	EDA	NM_001399.5(EDA):c.457C>T:p.Arg153Cys	coding	Pathogenic
X	69957093	C	T	C69957093T	EDA	NM_001399.5(EDA):c.463C>T:p.Arg155Cys	coding	Pathogenic
X	69957094	G	A	G69957094A	EDA	NM_001399.5(EDA):c.464G>A:p.Arg155His	coding	Benign
X	69957096	C	T	C69957096T	EDA	NM_001399.5(EDA):c.466C>T:p.Arg156Cys	coding	Pathogenic
X	69957097	G	A	G69957097A	EDA	NM_001399.5(EDA):c.467G>A:p.Arg156His	coding	Pathogenic
X	69957097	G	T	G69957097T	EDA	NM_001399.5(EDA):c.467G>T:p.Arg156Leu	coding	Pathogenic
X	69957099	A	G	A69957099G	EDA	NM_001399.5(EDA):c.469A>G:p.Asn157Asp	coding	Benign
X	69957104	A	C	A69957104C	EDA	NM_001399.5(EDA):c.474A>C:p.Lys158Asn	coding	Pathogenic
X	69957133	G	A	G69957133A	EDA	NM_001399.5(EDA):c.502+1G>A	coding	Pathogenic
X	70027855	A	T	A70027855T	EDA	NM_001399.5(EDA):c.527-2A>T	noncoding	Pathogenic
X	70027947	C	T	C70027947T	EDA	NM_001399.5(EDA):c.617C>T:p.Pro206Leu	coding	Pathogenic/Likely_pathogenic
X	70027958	G	T	G70027958T	EDA	NM_001399.5(EDA):c.628G>T:p.Gly210Ter	coding	Pathogenic
X	70028001	G	C	G70028001C	EDA	NM_001399.5(EDA):c.671G>C:p.Gly224Ala	coding	Pathogenic
X	70028006	C	T	C70028006T	EDA	NM_001399.5(EDA):c.676C>T:p.Gln226Ter	coding	Pathogenic
X	70028037	G	A	G70028037A	EDA	NM_001399.5(EDA):c.706+1G>A	coding	Pathogenic
X	70028041	G	T	G70028041T	EDA	NM_001399.5(EDA):c.706+5G>T	noncoding	Pathogenic
X	70029503	G	A	G70029503A	EDA	NM_001399.5(EDA):c.707-1G>A	noncoding	Pathogenic
X	70029527	C	T	C70029527T	EDA	NM_001399.5(EDA):c.730C>T:p.Arg244Ter	coding	Pathogenic
X	70029538	G	A	G70029538A	EDA	NM_001399.5(EDA):c.741G>A:p.Gln247=	coding	Pathogenic
X	70030458	C	T	C70030458T	EDA	NM_001399.5(EDA):c.742-11C>T	noncoding	Benign
X	70030482	A	T	A70030482T	EDA	NM_001399.5(EDA):c.755A>T:p.His252Leu	coding	Pathogenic
X	70030493	C	T	C70030493T	EDA	NM_001399.5(EDA):c.766C>T:p.Gln256Ter	coding	Pathogenic
X	70030503	C	A	C70030503A	EDA	NM_001399.5(EDA):c.776C>A:p.Ala259Glu	coding	Pathogenic
X	70033426	G	A	G70033426A	EDA	NM_001399.5(EDA):c.822G>A:p.Trp274Ter	coding	Pathogenic
X	70033430	C	T	C70033430T	EDA	NM_001399.5(EDA):c.826C>T:p.Arg276Cys	coding	Pathogenic
X	70033470	G	A	G70033470A	EDA	NM_001399.5(EDA):c.866G>A:p.Arg289His	coding	Pathogenic/Likely_pathogenic
X	70033475	G	A	G70033475A	EDA	NM_001399.5(EDA):c.871G>A:p.Gly291Arg	coding	Pathogenic
X	70033476	G	A	G70033476A	EDA	NM_001399.5(EDA):c.872G>A:p.Gly291Glu	coding	Pathogenic
X	70033526	G	T	G70033526T	EDA	NM_001399.5(EDA):c.922G>T:p.Glu308Ter	coding	Pathogenic
X	70035393	T	G	T70035393G	EDA	NM_001399.5(EDA):c.960T>G:p.Tyr320Ter	coding	Pathogenic
X	70035394	G	T	G70035394T	EDA	NM_001399.5(EDA):c.961G>T:p.Glu321Ter	coding	Pathogenic
X	70035403	G	A	G70035403A	EDA	NM_001399.5(EDA):c.970G>A:p.Val324Met	coding	Pathogenic
X	70035424	C	T	C70035424T	EDA	NM_001399.5(EDA):c.991C>T:p.Gln331Ter	coding	Pathogenic
X	70035434	G	A	G70035434A	EDA	NM_001399.5(EDA):c.1001G>A:p.Arg334His	coding	Benign
X	70035446	C	T	C70035446T	EDA	NM_001399.5(EDA):c.1013C>T:p.Thr338Met	coding	Pathogenic
X	70035447	G	A	G70035447A	EDA	NM_001399.5(EDA):c.1014G>A:p.Thr338=	coding	Benign
X	70035478	G	A	G70035478A	EDA	NM_001399.5(EDA):c.1045G>A:p.Ala349Thr	coding	Pathogenic
X	70035500	C	T	C70035500T	EDA	NM_001399.5(EDA):c.1067C>T:p.Ala356Val	coding	Pathogenic/Likely_pathogenic
X	70035503	G	A	G70035503A	EDA	NM_001399.5(EDA):c.1070G>A:p.Arg357Gln	coding	Benign
X	70035505	C	G	C70035505G	EDA	NM_001399.5(EDA):c.1072C>G:p.Gln358Glu	coding	Pathogenic
X	70035527	T	C	T70035527C	EDA	NM_001399.5(EDA):c.1094T>C:p.Val365Ala	coding	Pathogenic/Likely_pathogenic
X	70035537	C	T	C70035537T	EDA	NM_001399.5(EDA):c.1104C>T:p.Asp368=	coding	Benign
X	70035566	C	T	C70035566T	EDA	NM_001399.5(EDA):c.1133C>T:p.Thr378Met	coding	Pathogenic
X	70063118	C	T	C70063118T	OTUD6A	NM_207320.3(OTUD6A):c.594C>T:p.Phe198=	coding	Benign
X	70063386	C	T	C70063386T	OTUD6A	NM_207320.3(OTUD6A):c.862C>T:p.Leu288=	coding	Benign
X	70133962	C	T	C70133962T	IGBP1	NM_001551.3(IGBP1):c.15C>T:p.Asp5=	coding	Benign
X	70134046	C	T	C70134046T	IGBP1	NM_001551.3(IGBP1):c.99C>T:p.Ala33=	coding	Benign
X	70134651	G	A	G70134651A	IGBP1	NM_001551.3(IGBP1):c.317G>A:p.Arg106Gln	coding	Benign/Likely_benign
X	70146747	G	A	G70146747A	IGBP1	NM_001551.3(IGBP1):c.597G>A:p.Arg199=	coding	Benign
X	70146758	T	C	T70146758C	IGBP1	NM_001551.3(IGBP1):c.608T>C:p.Ile203Thr	coding	Benign/Likely_benign
X	70199890	C	T	C70199890T	DGAT2L6	NM_198512.3(DGAT2L6):c.267+8C>T	noncoding	Benign
X	70240176	C	T	C70240176T	AWAT1	NM_001013579.3(AWAT1):c.873C>T:p.Ser291=	coding	Benign
X	70258672	C	T	C70258672T	P2RY4	NM_002565.3(P2RY4):c.953G>A:p.Arg318His	coding	Benign
X	70259585	G	A	G70259585A	P2RY4	NM_002565.3(P2RY4):c.40C>T:p.Leu14Phe	coding	Benign
X	70276175	T	C	T70276175C	ARR3	NM_004312.3(ARR3):c.239T>C:p.Leu80Pro	coding	Pathogenic
X	70276234	C	T	C70276234T	ARR3	NM_004312.3(ARR3):c.298C>T:p.Arg100Ter	coding	Pathogenic
X	70276429	C	T	C70276429T	ARR3	NM_004312.3(ARR3):c.346-4C>T	noncoding	Benign
X	70277727	C	T	C70277727T	ARR3	NM_004312.3(ARR3):c.621C>T:p.His207=	coding	Benign
X	70278629	C	A	C70278629A	ARR3	NM_004312.3(ARR3):c.893C>A:p.Ala298Asp	coding	Pathogenic
X	70278632	C	G	C70278632G	ARR3	NM_004312.3(ARR3):c.896C>G:p.Ser299Cys	coding	Benign
X	70299148	A	G	A70299148G	KIF4A	NM_012310.5(KIF4A):c.462A>G:p.Pro154=	coding	Benign
X	70343712	G	T	G70343712T	KIF4A	NM_012310.5(KIF4A):c.1276G>T:p.Ala426Ser	coding	Benign
X	70352640	C	T	C70352640T	KIF4A	NM_012310.5(KIF4A):c.1472C>T:p.Ala491Val	coding	Benign
X	70386642	C	T	C70386642T	KIF4A	NM_012310.5(KIF4A):c.2059C>T:p.Leu687=	coding	Benign
X	70386708	A	G	A70386708G	KIF4A	NM_012310.5(KIF4A):c.2118+7A>G	noncoding	Benign
X	70395975	G	A	G70395975A	KIF4A	NM_012310.5(KIF4A):c.2415G>A:p.Val805=	coding	Benign
X	70426402	C	T	C70426402T	GDPD2	NM_017711.3(GDPD2):c.395C>T:p.Ala132Val	coding	Benign
X	70445294	C	T	C70445294T	DLG3	NM_021120.4(DLG3):c.93C>T:p.Gly31=	coding	Benign
X	70445505	G	A	G70445505A	DLG3	NM_021120.4(DLG3):c.304G>A:p.Gly102Ser	coding	Benign
X	70445552	T	A	T70445552A	DLG3	NM_021120.4(DLG3):c.351T>A:p.Tyr117Ter	coding	Pathogenic
X	70445559	G	C	G70445559C	DLG3	NM_021120.4(DLG3):c.357+1G>C	coding	Pathogenic
X	70445574	G	A	G70445574A	DLG3	NM_021120.4(DLG3):c.357+16G>A	noncoding	Benign
X	70449355	G	T	G70449355T	DLG3	NM_021120.4(DLG3):c.409-4G>T	noncoding	Benign/Likely_benign
X	70449787	C	T	C70449787T	DLG3	NM_021120.4(DLG3):c.631C>T:p.Arg211Ter	coding	Pathogenic
X	70450784	G	C	G70450784C	DLG3	NM_021120.4(DLG3):c.985+1G>C	coding	Pathogenic
X	70452612	G	C	G70452612C	DLG3	NM_021120.4(DLG3):c.1145+586G>C	coding	Benign
X	70454284	C	G	C70454284G	DLG3	NM_021120.4(DLG3):c.1373C>G:p.Ser458Ter	coding	Pathogenic
X	70495415	C	T	C70495415T	DLG3	NM_021120.4(DLG3):c.1781C>T:p.Pro594Leu	coding	Benign
X	70500922	T	G	T70500922G	DLG3	NM_021120.4(DLG3):c.2280T>G:p.Tyr760Ter	coding	Pathogenic
X	70500937	G	A	G70500937A	DLG3	NM_021120.4(DLG3):c.2295G>A:p.Lys765=	coding	Benign
X	70500940	C	A	C70500940A	DLG3	NM_021120.4(DLG3):c.2298C>A:p.Ile766=	coding	Benign
X	70552150	A	C	A70552150C	TEX11	NM_031276.3(TEX11):c.2496T>G:p.Asp832Glu	coding	Benign
X	70605421	C	T	C70605421T	TEX11	NM_001003811.2(TEX11):c.2092G>A:p.Ala698Thr	coding	Pathogenic
X	70725289	C	T	C70725289T	TEX11	NM_031276.3(TEX11):c.898G>A:p.Glu300Lys	coding	Benign
X	70853093	T	C	T70853093C	TEX11	NM_001003811.2(TEX11):c.511A>G:p.Met171Val	coding	Pathogenic
X	70853132	T	G	T70853132G	TEX11	NM_031276.3(TEX11):c.427A>C:p.Lys143Gln	coding	Benign
X	70853150	G	A	G70853150A	TEX11	NM_031276.3(TEX11):c.409C>T:p.Leu137=	coding	Benign
X	70853248	G	A	G70853248A	TEX11	NM_001003811.2(TEX11):c.450C>T:p.Ala150=	coding	Benign
X	70873305	A	T	A70873305T	TEX11	NM_031276.3(TEX11):c.162T>A:p.Ile54=	coding	Benign
X	71100917	G	A	G71100917A	FOXO4	NM_005938.4(FOXO4):c.687G>A:p.Thr229=	coding	Benign
X	71107446	A	G	A71107446G	IL2RG	NM_000206.2(IL2RG):c.*290T>C	noncoding	Benign
X	71107864	G	A	G71107864A	IL2RG	NM_000206.2(IL2RG):c.982C>T:p.Arg328Ter	coding	Pathogenic/Likely_pathogenic
X	71107883	C	T	C71107883T	IL2RG	NM_000206.3(IL2RG):c.963G>A:p.Leu321=	coding	Benign
X	71107893	G	A	G71107893A	IL2RG	NM_000206.3(IL2RG):c.953C>T:p.Ala318Val	coding	Benign
X	71108276	C	T	C71108276T	IL2RG	NM_000206.2(IL2RG):c.924+1G>A	noncoding	Pathogenic
X	71108278	G	T	G71108278T	IL2RG	NM_000206.2(IL2RG):c.923C>A:p.Ser308Ter	coding	Pathogenic
X	71108323	A	T	A71108323T	IL2RG	NM_000206.2(IL2RG):c.878T>A:p.Leu293Gln	coding	Pathogenic
X	71108336	G	A	G71108336A	IL2RG	NM_000206.2(IL2RG):c.865C>T:p.Arg289Ter	coding	Pathogenic
X	71108343	C	T	C71108343T	IL2RG	NM_000206.2(IL2RG):c.858G>A:p.Thr286=	coding	Benign
X	71108599	C	T	C71108599T	IL2RG	NM_000206.2(IL2RG):c.854G>A:p.Arg285Gln	coding	Pathogenic
X	71108607	C	T	C71108607T	IL2RG	NM_000206.2(IL2RG):c.846G>A:p.Trp282Ter	coding	Pathogenic
X	71108667	G	A	G71108667A	IL2RG	NM_000206.3(IL2RG):c.786C>T:p.Ala262=	coding	Benign
X	71108694	C	A	C71108694A	IL2RG	NM_000206.3(IL2RG):c.759G>T:p.Glu253Asp	coding	Benign
X	71108696	C	T	C71108696T	IL2RG	NM_000206.2(IL2RG):c.758-1G>A	coding	Pathogenic
X	71109265	C	T	C71109265T	IL2RG	NM_000206.2(IL2RG):c.720G>A:p.Trp240Ter	coding	Pathogenic
X	71109282	G	A	G71109282A	IL2RG	NM_000206.2(IL2RG):c.703C>T:p.Gln235Ter	coding	Pathogenic
X	71109308	C	T	C71109308T	IL2RG	NM_000206.2(IL2RG):c.677G>A:p.Arg226His	coding	Pathogenic
X	71109309	G	A	G71109309A	IL2RG	NM_000206.2(IL2RG):c.676C>T:p.Arg226Cys	coding	Pathogenic
X	71109315	G	A	G71109315A	IL2RG	NM_000206.2(IL2RG):c.670C>T:p.Arg224Trp	coding	Pathogenic
X	71109321	G	A	G71109321A	IL2RG	NM_000206.2(IL2RG):c.664C>T:p.Arg222Cys	coding	Pathogenic
X	71109332	C	T	C71109332T	IL2RG	NM_000206.3(IL2RG):c.653G>A:p.Arg218His	coding	Benign
X	71109383	G	C	G71109383C	IL2RG	NM_000206.2(IL2RG):c.602C>G:p.Ser201Ter	coding	Pathogenic
X	71110188	G	A	G71110188A	IL2RG	NM_000206.2(IL2RG):c.562C>T:p.Gln188Ter	coding	Pathogenic
X	71110200	C	A	C71110200A	IL2RG	NM_000206.3(IL2RG):c.550G>T:p.Glu184Ter	coding	Pathogenic
X	71110228	C	T	C71110228T	IL2RG	NM_000206.2(IL2RG):c.522G>A:p.Trp174Ter	coding	Pathogenic
X	71110239	C	G	C71110239G	IL2RG	NM_000206.3(IL2RG):c.511G>C:p.Glu171Gln	coding	Benign
X	71110256	A	C	A71110256C	IL2RG	NM_000206.3(IL2RG):c.494T>G:p.Leu165Arg	coding	Benign
X	71110292	A	T	A71110292T	IL2RG	NM_000206.2(IL2RG):c.458T>A:p.Ile153Asn	coding	Pathogenic
X	71110295	A	C	A71110295C	IL2RG	NM_000206.2(IL2RG):c.455T>G:p.Val152Gly	coding	Pathogenic
X	71110295	A	G	A71110295G	IL2RG	NM_000206.2(IL2RG):c.455T>C:p.Val152Ala	coding	Pathogenic/Likely_pathogenic
X	71110297	T	G	T71110297G	IL2RG	NM_000206.3(IL2RG):c.455-2A>C	noncoding	Pathogenic
X	71110303	T	C	T71110303C	IL2RG	NM_000206.3(IL2RG):c.455-8A>G	noncoding	Benign
X	71110503	C	T	C71110503T	IL2RG	NM_000206.2(IL2RG):c.454+1G>A	noncoding	Pathogenic
X	71110506	A	G	A71110506G	IL2RG	NM_000206.2(IL2RG):c.452T>C:p.Leu151Pro	coding	Pathogenic
X	71110528	G	A	G71110528A	IL2RG	NM_000206.2(IL2RG):c.430C>T:p.Gln144Ter	coding	Pathogenic
X	71110537	G	A	G71110537A	IL2RG	NM_000206.2(IL2RG):c.421C>T:p.Gln141Ter	coding	Pathogenic
X	71110562	G	A	G71110562A	IL2RG	NM_000206.3(IL2RG):c.396C>T:p.Leu132=	coding	Benign
X	71110567	G	A	G71110567A	IL2RG	NM_000206.2(IL2RG):c.391C>T:p.Gln131Ter	coding	Pathogenic
X	71110603	T	A	T71110603A	IL2RG	NM_000206.2(IL2RG):c.355A>T:p.Lys119Ter	coding	Pathogenic
X	71110615	A	G	A71110615G	IL2RG	NM_000206.2(IL2RG):c.343T>C:p.Cys115Arg	coding	Pathogenic
X	71110617	C	T	C71110617T	IL2RG	NM_000206.2(IL2RG):c.341G>A:p.Gly114Asp	coding	Pathogenic
X	71110626	A	G	A71110626G	IL2RG	NM_000206.3(IL2RG):c.332T>C:p.Ile111Thr	coding	Benign
X	71110633	C	T	C71110633T	IL2RG	NM_000206.2(IL2RG):c.325G>A:p.Glu109Lys	coding	Benign/Likely_benign
X	71110676	C	T	C71110676T	IL2RG	NM_000206.3(IL2RG):c.282G>A:p.Ser94=	coding	Benign
X	71110677	G	A	G71110677A	IL2RG	NM_000206.3(IL2RG):c.281C>T:p.Ser94Leu	coding	Benign
X	71110677	G	T	G71110677T	IL2RG	NM_000206.2(IL2RG):c.281C>A:p.Ser94Ter	coding	Pathogenic
X	71110688	C	T	C71110688T	IL2RG	NM_000206.2(IL2RG):c.270G>A:p.Trp90Ter	coding	Pathogenic
X	71110689	C	A	C71110689A	IL2RG	NM_000206.2(IL2RG):c.270-1G>T	coding	Pathogenic/Likely_pathogenic
X	71110703	T	C	T71110703C	IL2RG	NM_000206.2(IL2RG):c.270-15A>G	noncoding	Pathogenic
X	71110959	G	T	G71110959T	IL2RG	NM_000206.3(IL2RG):c.207C>A:p.Tyr69Ter	coding	Pathogenic
X	71110964	C	T	C71110964T	IL2RG	NM_000206.2(IL2RG):c.202G>A:p.Glu68Lys	coding	Pathogenic/Likely_pathogenic
X	71110965	G	A	G71110965A	IL2RG	NM_000206.3(IL2RG):c.201C>T:p.Val67=	coding	Benign
X	71110980	A	T	A71110980T	IL2RG	NM_000206.2(IL2RG):c.186T>A:p.Cys62Ter	coding	Pathogenic
X	71111007	G	A	G71111007A	IL2RG	NM_000206.3(IL2RG):c.159C>T:p.Ser53=	coding	Benign
X	71111440	C	A	C71111440A	IL2RG	NM_000206.2(IL2RG):c.100G>T:p.Glu34Ter	coding	Pathogenic
X	71111448	T	C	T71111448C	IL2RG	NM_000206.2(IL2RG):c.92A>G:p.Asn31Ser	coding	Benign
X	71111453	C	T	C71111453T	IL2RG	NM_000206.3(IL2RG):c.87G>A:p.Thr29=	coding	Benign
X	71111454	G	A	G71111454A	IL2RG	NM_000206.3(IL2RG):c.86C>T:p.Thr29Met	coding	Benign
X	71111462	T	A	T71111462A	IL2RG	NM_000206.3(IL2RG):c.78A>T:p.Thr26=	coding	Benign/Likely_benign
X	71111497	G	A	G71111497A	IL2RG	NM_000206.2(IL2RG):c.43C>T:p.Gln15Ter	coding	Pathogenic/Likely_pathogenic
X	71111538	A	G	A71111538G	IL2RG	NM_000206.2(IL2RG):c.2T>C:p.Met1Thr	coding	Pathogenic
X	71118268	G	A	G71118268A	MED12	NC_000023.11:g.71118268G>A	noncoding	Benign
X	71118549	A	G	A71118549G	MED12	NC_000023.11:g.71118549A>G	noncoding	Benign
X	71119648	C	T	C71119648T	MED12	NM_005120.3(MED12):c.205-38C>T	noncoding	Benign/Likely_benign
X	71119861	C	T	C71119861T	MED12	NM_005120.3(MED12):c.380C>T:p.Thr127Met	coding	Benign
X	71119865	A	G	A71119865G	MED12	NM_005120.3(MED12):c.384A>G:p.Gln128=	coding	Benign
X	71120002	A	T	A71120002T	MED12	NM_005120.3(MED12):c.397-12A>T	noncoding	Benign
X	71120055	A	G	A71120055G	MED12	NM_005120.3(MED12):c.438A>G:p.Leu146=	coding	Benign/Likely_benign
X	71120090	G	A	G71120090A	MED12	NM_005120.3(MED12):c.473G>A:p.Trp158Ter	coding	Pathogenic
X	71120472	C	G	C71120472G	MED12	NM_005120.3(MED12):c.553+302C>G	noncoding	Benign
X	71120888	A	G	A71120888G	MED12	NM_005120.3(MED12):c.554-83A>G	noncoding	Benign
X	71121125	C	T	C71121125T	MED12	NM_005120.3(MED12):c.708C>T:p.Thr236=	coding	Benign/Likely_benign
X	71121319	A	C	A71121319C	MED12	NM_005120.3(MED12):c.736-8A>C	noncoding	Benign
X	71121621	A	G	A71121621G	MED12	NM_005120.3(MED12):c.906A>G:p.Thr302=	coding	Benign
X	71121649	G	C	G71121649C	MED12	NM_005120.3(MED12):c.934G>C:p.Val312Leu	coding	Benign/Likely_benign
X	71121834	C	T	C71121834T	MED12	NM_005120.3(MED12):c.1101+18C>T	noncoding	Benign
X	71122238	C	T	C71122238T	MED12	NM_005120.3(MED12):c.1140C>T:p.His380=	coding	Benign/Likely_benign
X	71122265	G	A	G71122265A	MED12	NM_005120.3(MED12):c.1167G>A:p.Lys389=	coding	Benign/Likely_benign
X	71122268	C	T	C71122268T	MED12	NM_005120.3(MED12):c.1170C>T:p.Thr390=	coding	Benign
X	71122591	C	T	C71122591T	MED12	NM_005120.3(MED12):c.1332C>T:p.Cys444=	coding	Benign/Likely_benign
X	71122775	G	T	G71122775T	MED12	NM_005120.3(MED12):c.1386G>T:p.Val462=	coding	Benign
X	71122880	C	T	C71122880T	MED12	NM_005120.3(MED12):c.1485+6C>T	noncoding	Benign/Likely_benign
X	71122970	A	G	A71122970G	MED12	NM_005120.3(MED12):c.1485+96A>G	noncoding	Benign
X	71123615	G	A	G71123615A	MED12	NM_005120.3(MED12):c.1639G>A:p.Ala547Thr	coding	Benign
X	71123671	T	A	T71123671A	MED12	NM_005120.3(MED12):c.1695T>A:p.Ile565=	coding	Benign/Likely_benign
X	71123771	A	G	A71123771G	MED12	NM_005120.3(MED12):c.1744+51A>G	noncoding	Benign
X	71124481	G	C	G71124481C	MED12	NM_005120.3(MED12):c.1974+93G>C	noncoding	Benign
X	71124759	C	T	C71124759T	MED12	NM_005120.3(MED12):c.1975-5C>T	noncoding	Benign/Likely_benign
X	71124913	G	T	G71124913T	MED12	NM_005120.3(MED12):c.2056-63G>T	noncoding	Benign
X	71125383	G	A	G71125383A	MED12	NM_005120.3(MED12):c.2259G>A:p.Arg753=	coding	Benign
X	71125389	C	T	C71125389T	MED12	NM_005120.3(MED12):c.2265C>T:p.Val755=	coding	Benign
X	71125704	A	C	A71125704C	MED12	NM_005120.3(MED12):c.2413A>C:p.Thr805Pro	coding	Benign
X	71125743	C	T	C71125743T	MED12	NM_005120.3(MED12):c.2422+30C>T	noncoding	Benign
X	71125833	T	G	T71125833G	MED12	NM_005120.3(MED12):c.2422+120T>G	noncoding	Benign
X	71126057	G	A	G71126057A	MED12	NM_005120.3(MED12):c.2444G>A:p.Arg815Gln	coding	Pathogenic
X	71127359	G	A	G71127359A	MED12	NM_005120.3(MED12):c.2873G>A:p.Gly958Glu	coding	Pathogenic
X	71127367	C	T	C71127367T	MED12	NM_005120.3(MED12):c.2881C>T:p.Arg961Trp	coding	Pathogenic/Likely_pathogenic
X	71127372	C	T	C71127372T	MED12	NM_005120.3(MED12):c.2886C>T:p.Ser962=	coding	Benign
X	71127480	G	A	G71127480A	MED12	NM_005120.3(MED12):c.2981+13G>A	noncoding	Benign
X	71127923	C	T	C71127923T	MED12	NM_005120.3(MED12):c.3012C>T:p.Ile1004=	coding	Benign
X	71127931	A	G	A71127931G	MED12	NM_005120.3(MED12):c.3020A>G:p.Asn1007Ser	coding	Pathogenic
X	71127978	A	G	A71127978G	MED12	NM_005120.3(MED12):c.3067A>G:p.Ile1023Val	coding	Pathogenic
X	71128115	C	T	C71128115T	MED12	NM_005120.3(MED12):c.3204C>T:p.Pro1068=	coding	Benign/Likely_benign
X	71128467	G	C	G71128467C	MED12	NM_005120.3(MED12):c.3354+27G>C	noncoding	Benign
X	71128494	G	A	G71128494A	MED12	NM_005120.3(MED12):c.3354+54G>A	noncoding	Benign
X	71128686	G	A	G71128686A	MED12	NM_005120.3(MED12):c.3443G>A:p.Arg1148His	coding	Pathogenic
X	71129131	T	C	T71129131C	MED12	NM_005120.3(MED12):c.3493T>C:p.Ser1165Pro	coding	Pathogenic
X	71129687	G	A	G71129687A	MED12	NM_005120.3(MED12):c.3699G>A:p.Ala1233=	coding	Benign/Likely_benign
X	71130097	A	C	A71130097C	MED12	NM_005120.3(MED12):c.3930A>C:p.Pro1310=	coding	Benign
X	71130109	T	C	T71130109C	MED12	NM_005120.3(MED12):c.3942T>C:p.Ser1314=	coding	Benign/Likely_benign
X	71130437	A	G	A71130437G	MED12	NM_005120.3(MED12):c.4047+223A>G	noncoding	Benign
X	71132567	T	C	T71132567C	MED12	NM_005120.3(MED12):c.4415+29T>C	noncoding	Benign
X	71132666	A	G	A71132666G	MED12	NM_005120.3(MED12):c.4415+128A>G	noncoding	Benign
X	71132854	A	G	A71132854G	MED12	NM_005120.3(MED12):c.4425A>G:p.Leu1475=	coding	Benign
X	71135178	G	A	G71135178A	MED12	NM_005120.3(MED12):c.4950G>A:p.Thr1650=	coding	Benign/Likely_benign
X	71136032	A	T	A71136032T	MED12	NM_005120.3(MED12):c.5026-249A>T	noncoding	Benign
X	71136092	G	C	G71136092C	MED12	NM_005120.3(MED12):c.5026-189G>C	noncoding	Benign
X	71136364	C	T	C71136364T	MED12	NM_005120.3(MED12):c.5109C>T:p.Gly1703=	coding	Benign
X	71136380	C	T	C71136380T	MED12	NM_005120.3(MED12):c.5125C>T:p.Arg1709Ter	coding	Pathogenic
X	71136440	C	A	C71136440A	MED12	NM_005120.3(MED12):c.5185C>A:p.His1729Asn	coding	Pathogenic
X	71136522	T	C	T71136522C	MED12	NM_005120.3(MED12):c.5267T>C:p.Leu1756Pro	coding	Benign/Likely_benign
X	71136662	G	A	G71136662A	MED12	NM_005120.3(MED12):c.5400+7G>A	noncoding	Benign/Likely_benign
X	71136792	T	C	T71136792C	MED12	NM_005120.3(MED12):c.5401-87T>C	noncoding	Benign
X	71136968	A	C	A71136968C	MED12	NM_005120.3(MED12):c.5490A>C:p.Thr1830=	coding	Benign/Likely_benign
X	71137013	C	T	C71137013T	MED12	NM_005120.3(MED12):c.5535C>T:p.Asn1845=	coding	Benign
X	71137285	G	A	G71137285A	MED12	NM_005120.3(MED12):c.5650G>A:p.Gly1884Ser	coding	Benign
X	71137294	G	A	G71137294A	MED12	NM_005120.3(MED12):c.5659G>A:p.Gly1887Ser	coding	Benign/Likely_benign
X	71137346	C	T	C71137346T	MED12	NM_005120.3(MED12):c.5711C>T:p.Ala1904Val	coding	Benign/Likely_benign
X	71137347	G	A	G71137347A	MED12	NM_005120.3(MED12):c.5712G>A:p.Ala1904=	coding	Benign/Likely_benign
X	71137399	G	T	G71137399T	MED12	NM_005120.3(MED12):c.5748+16G>T	noncoding	Benign
X	71137614	C	T	C71137614T	MED12	NM_005120.3(MED12):c.5805C>T:p.Ser1935=	coding	Benign/Likely_benign
X	71137735	C	T	C71137735T	MED12	NM_005120.3(MED12):c.5836C>T:p.Pro1946Ser	coding	Benign
X	71137819	C	T	C71137819T	MED12	NM_005120.3(MED12):c.5920C>T:p.Gln1974Ter	coding	Pathogenic
X	71140791	A	G	A71140791G	MED12	NM_005120.3(MED12):c.6201A>G:p.Gln2067=	coding	Benign/Likely_benign
X	71141758	T	C	T71141758C	MED12	NM_005120.3(MED12):c.6409-125T>C	noncoding	Benign
X	71141769	T	C	T71141769C	MED12	NM_005120.3(MED12):c.6409-114T>C	noncoding	Benign
X	71142117	G	A	G71142117A	MED12	NM_005120.3(MED12):c.6491-58G>A	noncoding	Benign
X	71155230	T	C	T71155230C	NLGN3	NM_181303.2(NLGN3):c.594T>C:p.Gly198=	coding	Benign/Likely_benign
X	71164222	C	T	C71164222T	NLGN3	NM_181303.2(NLGN3):c.807C>T:p.Ser269=	coding	Benign
X	71164339	C	G	C71164339G	NLGN3	NM_181303.2(NLGN3):c.913+11C>G	noncoding	Benign
X	71167697	C	T	C71167697T	NLGN3	NM_181303.2(NLGN3):c.1600C>T:p.Pro534Ser	coding	Pathogenic
X	71169504	A	G	A71169504G	NLGN3	NM_181303.2(NLGN3):c.1954A>G:p.Thr652Ala	coding	Benign/Likely_benign
X	71169584	C	T	C71169584T	NLGN3	NM_181303.2(NLGN3):c.2034C>T:p.Tyr678=	coding	Benign/Likely_benign
X	71169800	C	T	C71169800T	NLGN3	NM_181303.2(NLGN3):c.2250C>T:p.Ala750=	coding	Benign
X	71169920	C	T	C71169920T	NLGN3	NM_181303.2(NLGN3):c.2370C>T:p.Pro790=	coding	Benign
X	71222995	G	A	G71222995A	GJB1	NM_001097642.3(GJB1):c.-16-697G>A	noncoding	Benign
X	71223249	C	T	C71223249T	GJB1	NM_000166.6(GJB1):c.-103C>T	noncoding	Pathogenic
X	71223275	G	A	G71223275A	GJB1	NM_000166.6(GJB1):c.-77G>A	noncoding	Benign/Likely_benign
X	71223451	C	T	C71223451T	GJB1	NM_000166.6(GJB1):c.-17+116C>T	noncoding	Benign
X	71223702	G	A	G71223702A	GJB1	NM_000166.6(GJB1):c.-6G>A	noncoding	Benign/Likely_benign
X	71223715	G	A	G71223715A	GJB1	NM_000166.6(GJB1):c.8G>A:p.Trp3Ter	coding	Pathogenic
X	71223716	G	A	G71223716A	GJB1	NM_000166.6(GJB1):c.9G>A:p.Trp3Ter	coding	Pathogenic
X	71223737	C	T	C71223737T	GJB1	NM_000166.6(GJB1):c.30C>T:p.Leu10=	coding	Benign/Likely_benign
X	71223742	G	A	G71223742A	GJB1	NM_000166.6(GJB1):c.35G>A:p.Gly12Asp	coding	Pathogenic
X	71223744	G	T	G71223744T	GJB1	NM_000166.6(GJB1):c.37G>T:p.Val13Leu	coding	Pathogenic
X	71223750	C	T	C71223750T	GJB1	NM_000166.6(GJB1):c.43C>T:p.Arg15Trp	coding	Pathogenic
X	71223751	G	A	G71223751A	GJB1	NM_000166.6(GJB1):c.44G>A:p.Arg15Gln	coding	Pathogenic
X	71223771	C	T	C71223771T	GJB1	NM_000166.6(GJB1):c.64C>T:p.Arg22Ter	coding	Pathogenic
X	71223772	G	A	G71223772A	GJB1	NM_000166.6(GJB1):c.65G>A:p.Arg22Gln	coding	Pathogenic/Likely_pathogenic
X	71223775	T	C	T71223775C	GJB1	NM_000166.6(GJB1):c.68T>C:p.Val23Ala	coding	Pathogenic
X	71223784	C	G	C71223784G	GJB1	NM_000166.6(GJB1):c.77C>G:p.Ser26Trp	coding	Pathogenic
X	71223784	C	T	C71223784T	GJB1	NM_000166.6(GJB1):c.77C>T:p.Ser26Leu	coding	Pathogenic
X	71223790	T	A	T71223790A	GJB1	NM_000166.6(GJB1):c.83T>A:p.Ile28Asn	coding	Pathogenic/Likely_pathogenic
X	71223796	T	A	T71223796A	GJB1	NM_000166.6(GJB1):c.89T>A:p.Ile30Asn	coding	Pathogenic
X	71223796	T	C	T71223796C	GJB1	NM_000166.6(GJB1):c.89T>C:p.Ile30Thr	coding	Pathogenic
X	71223807	A	G	A71223807G	GJB1	NM_000166.6(GJB1):c.100A>G:p.Met34Val	coding	Pathogenic
X	71223808	T	C	T71223808C	GJB1	NM_000166.6(GJB1):c.101T>C:p.Met34Thr	coding	Pathogenic
X	71223819	G	A	G71223819A	GJB1	NM_000166.6(GJB1):c.112G>A:p.Val38Met	coding	Pathogenic
X	71223823	C	T	C71223823T	GJB1	NM_000166.6(GJB1):c.116C>T:p.Ala39Val	coding	Pathogenic
X	71223826	C	T	C71223826T	GJB1	NM_000166.6(GJB1):c.119C>T:p.Ala40Val	coding	Pathogenic
X	71223858	T	C	T71223858C	GJB1	NM_000166.6(GJB1):c.151T>C:p.Phe51Leu	coding	Pathogenic/Likely_pathogenic
X	71223871	C	T	C71223871T	GJB1	NM_000166.6(GJB1):c.164C>T:p.Thr55Ile	coding	Pathogenic
X	71223879	C	T	C71223879T	GJB1	NM_000166.6(GJB1):c.172C>T:p.Pro58Ser	coding	Pathogenic
X	71223894	G	A	G71223894A	GJB1	NM_000166.6(GJB1):c.187G>A:p.Val63Ile	coding	Pathogenic
X	71223898	G	A	G71223898A	GJB1	NM_000166.6(GJB1):c.191G>A:p.Cys64Tyr	coding	Pathogenic
X	71223901	A	G	A71223901G	GJB1	NM_000166.6(GJB1):c.194A>G:p.Tyr65Cys	coding	Pathogenic
X	71223906	C	T	C71223906T	GJB1	NM_000166.6(GJB1):c.199C>T:p.Gln67Ter	coding	Pathogenic
X	71223915	C	G	C71223915G	GJB1	NM_000166.6(GJB1):c.208C>G:p.Pro70Ala	coding	Pathogenic/Likely_pathogenic
X	71223930	C	T	C71223930T	GJB1	NM_000166.6(GJB1):c.223C>T:p.Arg75Trp	coding	Pathogenic
X	71223931	G	A	G71223931A	GJB1	NM_000166.6(GJB1):c.224G>A:p.Arg75Gln	coding	Pathogenic
X	71223938	G	A	G71223938A	GJB1	NM_000166.6(GJB1):c.231G>A:p.Trp77Ter	coding	Pathogenic
X	71223942	C	T	C71223942T	GJB1	NM_000166.6(GJB1):c.235C>T:p.Leu79=	coding	Benign/Likely_benign
X	71223945	C	A	C71223945A	GJB1	NM_000166.6(GJB1):c.238C>A:p.Gln80Lys	coding	Pathogenic
X	71223945	C	T	C71223945T	GJB1	NM_000166.6(GJB1):c.238C>T:p.Gln80Ter	coding	Pathogenic
X	71223946	A	G	A71223946G	GJB1	NM_000166.6(GJB1):c.239A>G:p.Gln80Arg	coding	Pathogenic/Likely_pathogenic
X	71223966	C	G	C71223966G	GJB1	NM_000166.6(GJB1):c.259C>G:p.Pro87Ala	coding	Pathogenic
X	71223972	C	G	C71223972G	GJB1	NM_000166.6(GJB1):c.265C>G:p.Leu89Val	coding	Pathogenic
X	71223973	T	C	T71223973C	GJB1	NM_000166.6(GJB1):c.266T>C:p.Leu89Pro	coding	Pathogenic
X	71223978	G	A	G71223978A	GJB1	NM_000166.6(GJB1):c.271G>A:p.Val91Met	coding	Pathogenic/Likely_pathogenic
X	71223988	A	G	A71223988G	GJB1	NM_000166.6(GJB1):c.281A>G:p.His94Arg	coding	Pathogenic
X	71223989	C	A	C71223989A	GJB1	NM_000166.6(GJB1):c.282C>A:p.His94Gln	coding	Pathogenic
X	71223990	G	A	G71223990A	GJB1	NM_000166.6(GJB1):c.283G>A:p.Val95Met	coding	Pathogenic
X	71224012	A	G	A71224012G	GJB1	NM_000166.6(GJB1):c.305A>G:p.Glu102Gly	coding	Pathogenic
X	71224025	A	G	A71224025G	GJB1	NM_000166.6(GJB1):c.318A>G:p.Leu106=	coding	Benign/Likely_benign
X	71224026	C	T	C71224026T	GJB1	NM_000166.6(GJB1):c.319C>T:p.Arg107Trp	coding	Pathogenic
X	71224088	C	G	C71224088G	GJB1	NM_000166.6(GJB1):c.381C>G:p.Ile127Met	coding	Pathogenic
X	71224104	T	C	T71224104C	GJB1	NM_000166.6(GJB1):c.397T>C:p.Trp133Arg	coding	Pathogenic
X	71224114	T	C	T71224114C	GJB1	NM_000166.6(GJB1):c.407T>C:p.Val136Ala	coding	Pathogenic
X	71224122	G	A	G71224122A	GJB1	NM_000166.6(GJB1):c.415G>A:p.Val139Met	coding	Pathogenic
X	71224131	C	T	C71224131T	GJB1	NM_000166.6(GJB1):c.424C>T:p.Arg142Trp	coding	Pathogenic
X	71224169	T	G	T71224169G	GJB1	NM_000166.6(GJB1):c.462T>G:p.Tyr154Ter	coding	Pathogenic
X	71224174	T	G	T71224174G	GJB1	NM_000166.6(GJB1):c.467T>G:p.Leu156Arg	coding	Pathogenic/Likely_pathogenic
X	71224197	C	T	C71224197T	GJB1	NM_000166.6(GJB1):c.490C>T:p.Arg164Trp	coding	Pathogenic
X	71224198	G	A	G71224198A	GJB1	NM_000166.6(GJB1):c.491G>A:p.Arg164Gln	coding	Pathogenic
X	71224211	C	A	C71224211A	GJB1	NM_000166.6(GJB1):c.504C>A:p.Cys168Ter	coding	Pathogenic
X	71224214	C	T	C71224214T	GJB1	NM_000166.6(GJB1):c.507C>T:p.Asp169=	coding	Benign/Likely_benign
X	71224220	C	G	C71224220G	GJB1	NM_000166.6(GJB1):c.513C>G:p.Tyr171Ter	coding	Pathogenic
X	71224221	C	T	C71224221T	GJB1	NM_000166.6(GJB1):c.514C>T:p.Pro172Ser	coding	Pathogenic
X	71224222	C	T	C71224222T	GJB1	NM_000166.6(GJB1):c.515C>T:p.Pro172Leu	coding	Pathogenic
X	71224226	C	A	C71224226A	GJB1	NM_000166.6(GJB1):c.519C>A:p.Cys173Ter	coding	Pathogenic
X	71224247	C	T	C71224247T	GJB1	NM_000166.6(GJB1):c.540C>T:p.Phe180=	coding	Benign
X	71224248	G	A	G71224248A	GJB1	NM_000166.6(GJB1):c.541G>A:p.Val181Met	coding	Pathogenic
X	71224254	C	T	C71224254T	GJB1	NM_000166.6(GJB1):c.547C>T:p.Arg183Cys	coding	Pathogenic/Likely_pathogenic
X	71224255	G	A	G71224255A	GJB1	NM_000166.6(GJB1):c.548G>A:p.Arg183His	coding	Pathogenic
X	71224263	G	A	G71224263A	GJB1	NM_000166.6(GJB1):c.556G>A:p.Glu186Lys	coding	Pathogenic
X	71224263	G	T	G71224263T	GJB1	NM_000166.6(GJB1):c.556G>T:p.Glu186Ter	coding	Pathogenic
X	71224287	A	G	A71224287G	GJB1	NM_000166.6(GJB1):c.580A>G:p.Met194Val	coding	Pathogenic
X	71224321	A	G	A71224321G	GJB1	NM_000166.6(GJB1):c.614A>G:p.Asn205Ser	coding	Pathogenic
X	71224329	G	A	G71224329A	GJB1	NM_000166.6(GJB1):c.622G>A:p.Glu208Lys	coding	Pathogenic
X	71224334	G	T	G71224334T	GJB1	NM_000166.6(GJB1):c.627G>T:p.Val209=	coding	Benign/Likely_benign
X	71224340	C	A	C71224340A	GJB1	NM_000166.6(GJB1):c.633C>A:p.Tyr211Ter	coding	Pathogenic
X	71224350	C	T	C71224350T	GJB1	NM_000166.6(GJB1):c.643C>T:p.Arg215Trp	coding	Pathogenic
X	71224351	G	C	G71224351C	GJB1	NM_000166.6(GJB1):c.644G>C:p.Arg215Pro	coding	Pathogenic/Likely_pathogenic
X	71224365	C	T	C71224365T	GJB1	NM_000166.6(GJB1):c.658C>T:p.Arg220Ter	coding	Pathogenic
X	71224378	G	A	G71224378A	GJB1	NM_000166.6(GJB1):c.671G>A:p.Arg224His	coding	Benign
X	71224395	C	T	C71224395T	GJB1	NM_000166.6(GJB1):c.688C>T:p.Arg230Cys	coding	Benign/Likely_benign
X	71224411	T	G	T71224411G	GJB1	NM_000166.6(GJB1):c.704T>G:p.Phe235Cys	coding	Benign/Likely_benign
X	71224593	C	A	C71224593A	GJB1	NM_000166.6(GJB1):c.*34C>A	noncoding	Benign
X	71224676	C	T	C71224676T	GJB1	NM_000166.6(GJB1):c.*117C>T	noncoding	Benign
X	71224722	G	T	G71224722T	GJB1	NM_000166.6(GJB1):c.*163G>T	noncoding	Benign
X	71224868	G	A	G71224868A	GJB1	NM_000166.6(GJB1):c.*309G>A	noncoding	Benign
X	71241084	G	A	G71241084A	ZMYM3	NM_201599.3(ZMYM3):c.3945C>T:p.Asn1315=	coding	Benign
X	71241348	T	C	T71241348C	ZMYM3	NM_201599.3(ZMYM3):c.3803-4A>G	noncoding	Benign
X	71246640	G	C	G71246640C	ZMYM3	NM_201599.3(ZMYM3):c.2367C>G:p.Asn789Lys	coding	Benign
X	71250444	G	A	G71250444A	ZMYM3	NM_201599.3(ZMYM3):c.1061C>T:p.Thr354Ile	coding	Benign
X	71250497	C	T	C71250497T	ZMYM3	NM_201599.3(ZMYM3):c.1008G>A:p.Ser336=	coding	Benign
X	71250584	G	T	G71250584T	ZMYM3	NM_201599.3(ZMYM3):c.921C>A:p.Thr307=	coding	Benign
X	71290740	C	T	C71290740T	NONO	NM_007363.5(NONO):c.103C>T:p.Gln35Ter	coding	Pathogenic
X	71291841	C	T	C71291841T	NONO	NM_007363.5(NONO):c.217C>T:p.Arg73Ter	coding	Pathogenic
X	71294335	C	T	C71294335T	NONO	NM_007363.5(NONO):c.457C>T:p.Arg153Ter	coding	Pathogenic
X	71294428	C	T	C71294428T	NONO	NM_007363.5(NONO):c.550C>T:p.Arg184Ter	coding	Pathogenic
X	71294451	C	T	C71294451T	NONO	NM_007363.5(NONO):c.573C>T:p.Gly191=	coding	Benign
X	71294535	G	A	G71294535A	NONO	NM_007363.5(NONO):c.650+7G>A	noncoding	Benign
X	71297442	C	T	C71297442T	NONO	NM_007363.5(NONO):c.1009C>T:p.Arg337Ter	coding	Pathogenic
X	71297832	G	C	G71297832C	NONO	NM_007363.5(NONO):c.1029-4G>C	noncoding	Benign
X	71297900	C	T	C71297900T	NONO	NM_007363.5(NONO):c.1093C>T:p.Arg365Ter	coding	Pathogenic
X	71297938	G	A	G71297938A	NONO	NM_007363.5(NONO):c.1131G>A:p.Ala377=	coding	Pathogenic
X	71298508	G	T	G71298508T	NONO	NM_007363.5(NONO):c.1171G>T:p.Gly391Cys	coding	Pathogenic
X	71298509	G	T	G71298509T	NONO	NM_007363.5(NONO):c.1171+1G>T	coding	Pathogenic
X	71298714	G	T	G71298714T	NONO	NM_007363.5(NONO):c.1179G>T:p.Met393Ile	coding	Benign
X	71301843	C	T	C71301843T	ITGB1BP2	NM_012278.4(ITGB1BP2):c.37C>T:p.His13Tyr	coding	Benign
X	71302273	T	C	T71302273C	ITGB1BP2	NM_012278.4(ITGB1BP2):c.115-4T>C	noncoding	Benign
X	71302305	T	G	T71302305G	ITGB1BP2	NM_012278.4(ITGB1BP2):c.143T>G:p.Val48Gly	coding	Benign
X	71366346	C	T	C71366346T	TAF1	NM_004606.4(TAF1):c.32C>T:p.Thr11Ile	coding	Benign
X	71366461	C	G	C71366461G	TAF1	NM_004606.5(TAF1):c.87C>G:p.Ala29=	coding	Benign
X	71367547	C	T	C71367547T	TAF1	NM_004606.5(TAF1):c.169C>T:p.Leu57=	coding	Benign
X	71375236	C	T	C71375236T	TAF1	NM_004606.5(TAF1):c.422C>T:p.Pro141Leu	coding	Benign
X	71377696	C	G	C71377696G	TAF1	NM_004606.5(TAF1):c.808C>G:p.Leu270Val	coding	Benign
X	71377718	A	T	A71377718T	TAF1	NM_004606.5(TAF1):c.830A>T:p.Gln277Leu	coding	Benign
X	71377722	G	A	G71377722A	TAF1	NM_004606.5(TAF1):c.834G>A:p.Glu278=	coding	Benign
X	71377781	C	G	C71377781G	TAF1	NM_004606.5(TAF1):c.893C>G:p.Ala298Gly	coding	Benign
X	71378273	A	G	A71378273G	TAF1	NM_004606.5(TAF1):c.972A>G:p.Gln324=	coding	Benign
X	71381813	A	G	A71381813G	TAF1	NM_004606.5(TAF1):c.1431A>G:p.Val477=	coding	Benign
X	71387393	T	C	T71387393C	TAF1	NM_004606.5(TAF1):c.2359T>C:p.Cys787Arg	coding	Pathogenic
X	71388227	T	C	T71388227C	TAF1	NM_004606.5(TAF1):c.2428-10T>C	noncoding	Benign
X	71388856	G	A	G71388856A	TAF1	NM_004606.5(TAF1):c.2688G>A:p.Glu896=	coding	Benign
X	71392653	G	C	G71392653C	TAF1	NM_004606.5(TAF1):c.2866G>C:p.Asp956His	coding	Pathogenic
X	71394061	T	C	T71394061C	TAF1	NM_004606.5(TAF1):c.3228-6T>C	noncoding	Benign
X	71397354	C	T	C71397354T	TAF1	NM_004606.5(TAF1):c.3508C>T:p.Arg1170Cys	coding	Pathogenic
X	71401566	G	A	G71401566A	TAF1	NM_004606.5(TAF1):c.3825G>A:p.Arg1275=	coding	Benign
X	71401569	T	G	T71401569G	TAF1	NM_004606.5(TAF1):c.3828T>G:p.Thr1276=	coding	Benign
X	71401691	T	C	T71401691C	TAF1	NM_004606.5(TAF1):c.3950T>C:p.Ile1317Thr	coding	Pathogenic
X	71407621	G	A	G71407621A	TAF1	NM_004606.5(TAF1):c.4155G>A:p.Thr1385=	coding	Benign
X	71408063	C	T	C71408063T	TAF1	NM_004606.5(TAF1):c.4296C>T:p.Arg1432=	coding	Benign
X	71423185	G	A	G71423185A	TAF1	NM_004606.5(TAF1):c.4521G>A:p.Ala1507=	coding	Benign
X	71424183	G	A	G71424183A	TAF1	NM_004606.5(TAF1):c.4698G>A:p.Arg1566=	coding	Benign
X	71424193	C	T	C71424193T	TAF1	NM_004606.5(TAF1):c.4708C>T:p.Leu1570=	coding	Benign
X	71460634	C	T	C71460634T	TAF1	NM_004606.5(TAF1):c.5230C>T:p.Leu1744=	coding	Benign/Likely_benign
X	71460710	A	G	A71460710G	TAF1	NM_004606.5(TAF1):c.5306A>G:p.Asn1769Ser	coding	Benign
X	71529785	C	T	C71529785T	TAF1	NR_104387.1(TAF1):n.5894C>T	noncoding	Pathogenic
X	71544561	T	G	T71544561G	OGT	NM_181672.3(OGT):c.463-6T>G	noncoding	Pathogenic
X	71555223	G	C	G71555223C	OGT	NM_181672.3(OGT):c.762G>C:p.Leu254Phe	coding	Pathogenic
X	71555223	G	T	G71555223T	OGT	NM_181672.3(OGT):c.762G>T:p.Leu254Phe	coding	Pathogenic
X	71555312	G	C	G71555312C	OGT	NM_181672.3(OGT):c.851G>C:p.Arg284Pro	coding	Pathogenic
X	71556045	A	G	A71556045G	OGT	NM_181672.3(OGT):c.1016A>G:p.Glu339Gly	coding	Pathogenic
X	71557066	A	C	A71557066C	OGT	NM_181672.3(OGT):c.1281A>C:p.Ala427=	coding	Benign
X	71561865	A	T	A71561865T	OGT	NM_181672.3(OGT):c.1942A>T:p.Asn648Tyr	coding	Pathogenic
X	71617490	T	A	T71617490A	CXCR3	NM_001504.2(CXCR3):c.13-31A>T	coding	Benign
X	72208201	T	C	T72208201C	ERCC6L	NM_017669.4(ERCC6L):c.566A>G:p.Asn189Ser	coding	Benign
X	72208269	C	T	C72208269T	ERCC6L	NM_017669.4(ERCC6L):c.498G>A:p.Lys166=	coding	Benign
X	72208498	C	T	C72208498T	ERCC6L	NM_017669.4(ERCC6L):c.269G>A:p.Arg90Gln	coding	Benign
X	72275731	C	A	C72275731A	RPS4X	NM_001007.5(RPS4X):c.82-7G>T	noncoding	Benign
X	72301819	C	T	C72301819T	CITED1	NM_001144887.2(CITED1):c.486G>A:p.Val162=	coding	Benign
X	72351723	C	A	C72351723A	HDAC8	NM_018486.3(HDAC8):c.1111+10G>T	noncoding	Benign
X	72351763	G	A	G72351763A	HDAC8	NM_018486.3(HDAC8):c.1081C>T:p.Arg361Ter	coding	Pathogenic
X	72462008	T	C	T72462008C	HDAC8	NM_018486.3(HDAC8):c.1001A>G:p.His334Arg	coding	Pathogenic
X	72462058	G	T	G72462058T	HDAC8	NM_018486.3(HDAC8):c.951C>A:p.Tyr317Ter	coding	Pathogenic
X	72462072	G	A	G72462072A	HDAC8	NM_018486.3(HDAC8):c.937C>T:p.Arg313Ter	coding	Pathogenic
X	72462076	C	T	C72462076T	HDAC8	NM_018486.3(HDAC8):c.933G>A:p.Thr311=	coding	Benign
X	72462077	G	A	G72462077A	HDAC8	NM_018486.3(HDAC8):c.932C>T:p.Thr311Met	coding	Pathogenic
X	72464562	C	A	C72464562A	HDAC8	NM_018486.3(HDAC8):c.907G>T:p.Gly303Ter	coding	Pathogenic
X	72464682	G	A	G72464682A	HDAC8	NM_018486.3(HDAC8):c.787C>T:p.Gln263Ter	coding	Pathogenic
X	72464732	C	T	C72464732T	HDAC8	NM_018486.3(HDAC8):c.738-1G>A	coding	Pathogenic
X	72489031	G	A	G72489031A	HDAC8	NM_018486.3(HDAC8):c.639C>T:p.Asp213=	coding	Benign
X	72490995	C	T	C72490995T	HDAC8	NM_018486.3(HDAC8):c.562G>A:p.Ala188Thr	coding	Pathogenic
X	72495167	T	C	T72495167C	HDAC8	NM_018486.3(HDAC8):c.539A>G:p.His180Arg	coding	Pathogenic
X	72495184	G	A	G72495184A	HDAC8	NM_018486.3(HDAC8):c.522C>T:p.Tyr174=	coding	Benign
X	72495184	G	T	G72495184T	HDAC8	NM_018486.3(HDAC8):c.522C>A:p.Tyr174Ter	coding	Pathogenic
X	72495190	A	T	A72495190T	HDAC8	NM_018486.3(HDAC8):c.516T>A:p.Ile172=	coding	Benign
X	72495210	G	A	G72495210A	HDAC8	NM_018486.3(HDAC8):c.496C>T:p.Arg166Ter	coding	Pathogenic
X	72495216	G	A	G72495216A	HDAC8	NM_018486.3(HDAC8):c.490C>T:p.Arg164Ter	coding	Pathogenic
X	72495283	G	A	G72495283A	HDAC8	NM_018486.3(HDAC8):c.438-15C>T	noncoding	Benign
X	72567975	C	A	C72567975A	HDAC8	NM_018486.3(HDAC8):c.351G>T:p.Gly117=	coding	Benign
X	72568752	A	C	A72568752C	HDAC8	NM_018486.3(HDAC8):c.295+2T>G	noncoding	Pathogenic
X	72568820	G	A	G72568820A	HDAC8	NM_018486.3(HDAC8):c.229C>T:p.Gln77Ter	coding	Pathogenic
X	72568843	G	T	G72568843T	HDAC8	NM_018486.3(HDAC8):c.206C>A:p.Thr69Asn	coding	Benign
X	72568880	C	T	C72568880T	HDAC8	NM_018486.3(HDAC8):c.169G>A:p.Val57Ile	coding	Benign
X	72568886	T	C	T72568886C	HDAC8	NM_018486.3(HDAC8):c.165-2A>G	noncoding	Pathogenic
X	72569020	T	C	T72569020C	HDAC8	NM_018486.3(HDAC8):c.165-136A>G	noncoding	Benign
X	72572052	C	T	C72572052T	HDAC8	NM_018486.3(HDAC8):c.164+5G>A	noncoding	Pathogenic
X	72572062	C	T	C72572062T	HDAC8	NM_018486.3(HDAC8):c.159G>A:p.Gln53=	coding	Benign
X	72572611	A	C	A72572611C	HDAC8	NM_018486.3(HDAC8):c.111+40T>G	noncoding	Benign
X	72572742	G	A	G72572742A	HDAC8	NM_018486.3(HDAC8):c.20C>T:p.Pro7Leu	coding	Benign
X	72579627	T	C	T72579627C	PHKA1	NM_002637.4(PHKA1):c.*1375A>G	noncoding	Benign
X	72580198	G	A	G72580198A	PHKA1	NM_002637.4(PHKA1):c.*804C>T	noncoding	Benign
X	72580502	G	T	G72580502T	PHKA1	NM_002637.4(PHKA1):c.*500C>A	noncoding	Benign
X	72580771	T	A	T72580771A	PHKA1	NM_002637.4(PHKA1):c.*231A>T	noncoding	Benign
X	72581005	T	C	T72581005C	PHKA1	NM_002637.4(PHKA1):c.3669A>G:p.Gln1223=	coding	Benign
X	72581151	T	C	T72581151C	PHKA1	NM_002637.4(PHKA1):c.3523A>G:p.Met1175Val	coding	Benign
X	72581163	C	T	C72581163T	PHKA1	NM_002637.4(PHKA1):c.3511G>A:p.Ala1171Thr	coding	Benign
X	72582461	G	A	G72582461A	PHKA1	NM_002637.4(PHKA1):c.3435C>T:p.Ile1145=	coding	Benign
X	72582562	C	A	C72582562A	PHKA1	NM_002637.4(PHKA1):c.3334G>T:p.Glu1112Ter	coding	Pathogenic
X	72603180	C	T	C72603180T	PHKA1	NM_002637.4(PHKA1):c.2856G>A:p.Ser952=	coding	Benign
X	72603344	A	G	A72603344G	PHKA1	NM_002637.4(PHKA1):c.2816-124T>C	noncoding	Benign
X	72609523	A	C	A72609523C	PHKA1	NM_002637.4(PHKA1):c.2606+101T>G	noncoding	Benign
X	72609623	C	T	C72609623T	PHKA1	NM_002637.4(PHKA1):c.2606+1G>A	noncoding	Pathogenic
X	72611092	C	T	C72611092T	PHKA1	NM_002637.4(PHKA1):c.2462G>A:p.Arg821His	coding	Benign/Likely_benign
X	72611121	G	A	G72611121A	PHKA1	NM_002637.4(PHKA1):c.2433C>T:p.Thr811=	coding	Benign
X	72611198	G	A	G72611198A	PHKA1	NM_002637.4(PHKA1):c.2370-14C>T	noncoding	Benign
X	72618588	A	G	A72618588G	PHKA1	NM_002637.4(PHKA1):c.2369+122T>C	noncoding	Benign
X	72619031	A	G	A72619031G	PHKA1	NM_002637.4(PHKA1):c.2230-182T>C	noncoding	Benign
X	72619283	C	T	C72619283T	PHKA1	NM_002637.4(PHKA1):c.2160G>A:p.Thr720=	coding	Benign
X	72620504	T	C	T72620504C	PHKA1	NM_002637.4(PHKA1):c.2137+221A>G	noncoding	Benign
X	72627176	T	C	T72627176C	PHKA1	NM_002637.4(PHKA1):c.1715-127A>G	noncoding	Benign
X	72627224	T	C	T72627224C	PHKA1	NM_002637.4(PHKA1):c.1715-175A>G	noncoding	Benign
X	72635372	T	C	T72635372C	PHKA1	NM_002637.4(PHKA1):c.1570-73A>G	noncoding	Benign
X	72635511	T	C	T72635511C	PHKA1	NM_002637.4(PHKA1):c.1570-212A>G	noncoding	Benign
X	72644420	C	T	C72644420T	PHKA1	NM_002637.4(PHKA1):c.1401G>A:p.Glu467=	coding	Benign
X	72652615	G	A	G72652615A	PHKA1	NM_002637.4(PHKA1):c.1174C>T:p.Arg392Ter	coding	Pathogenic
X	72652648	C	T	C72652648T	PHKA1	NM_002637.4(PHKA1):c.1141G>A:p.Asp381Asn	coding	Benign/Likely_benign
X	72656122	G	A	G72656122A	PHKA1	NM_002637.4(PHKA1):c.1039C>T:p.Gln347Ter	coding	Pathogenic
X	72657610	T	A	T72657610A	PHKA1	NM_002637.4(PHKA1):c.896A>T:p.Asp299Val	coding	Pathogenic
X	72657614	G	A	G72657614A	PHKA1	NM_002637.4(PHKA1):c.892C>T:p.Arg298Ter	coding	Pathogenic
X	72666140	T	C	T72666140C	PHKA1	NM_002637.4(PHKA1):c.864+11A>G	noncoding	Benign/Likely_benign
X	72666309	G	T	G72666309T	PHKA1	NM_002637.4(PHKA1):c.718-12C>A	noncoding	Benign
X	72667425	C	T	C72667425T	PHKA1	NM_002637.4(PHKA1):c.667G>A:p.Gly223Arg	coding	Pathogenic
X	72684499	G	A	G72684499A	PHKA1	NM_002637.4(PHKA1):c.536C>T:p.Ala179Val	coding	Benign
X	72684543	G	A	G72684543A	PHKA1	NM_002637.4(PHKA1):c.492C>T:p.Phe164=	coding	Benign
X	72684557	C	T	C72684557T	PHKA1	NM_002637.4(PHKA1):c.478G>A:p.Asp160Asn	coding	Benign/Likely_benign
X	72695733	G	A	G72695733A	PHKA1	NM_002637.4(PHKA1):c.429C>T:p.Leu143=	coding	Benign
X	72714109	C	T	C72714109T	PHKA1	NM_002637.4(PHKA1):c.-229G>A	noncoding	Benign
X	72714141	G	T	G72714141T	PHKA1	NM_002637.4(PHKA1):c.-261C>A	noncoding	Benign
X	73213947	A	G	A73213947G	NAP1L2	NM_021963.4(NAP1L2):c.546T>C:p.His182=	coding	Benign
X	73214466	C	T	C73214466T	NAP1L2	NM_021963.4(NAP1L2):c.27G>A:p.Glu9=	coding	Benign
X	74304311	G	A	G74304311A	ZCCHC13	NM_203303.3(ZCCHC13):c.45G>A:p.Trp15Ter	coding	Benign
X	74304369	G	A	G74304369A	ZCCHC13	NM_203303.3(ZCCHC13):c.103G>A:p.Gly35Ser	coding	Benign
X	74304722	A	G	A74304722G	ZCCHC13	NM_203303.3(ZCCHC13):c.456A>G:p.Leu152=	coding	Benign
X	74421094	T	A	T74421094A	SLC16A2	NC_000023.11:g.74421094T>A	noncoding	Benign
X	74421538	C	T	C74421538T	SLC16A2	NM_006517.5(SLC16A2):c.-100C>T	noncoding	Benign
X	74421683	C	T	C74421683T	SLC16A2	NM_006517.5(SLC16A2):c.46C>T:p.Gln16Ter	coding	Pathogenic
X	74421734	T	C	T74421734C	SLC16A2	NM_006517.5(SLC16A2):c.97T>C:p.Ser33Pro	coding	Benign
X	74421791	C	T	C74421791T	SLC16A2	NM_006517.5(SLC16A2):c.154C>T:p.Gln52Ter	coding	Pathogenic
X	74421839	G	T	G74421839T	SLC16A2	NM_006517.5(SLC16A2):c.202G>T:p.Glu68Ter	coding	Pathogenic
X	74421914	C	T	C74421914T	SLC16A2	NM_006517.5(SLC16A2):c.277C>T:p.Gln93Ter	coding	Pathogenic
X	74421963	G	A	G74421963A	SLC16A2	NM_006517.5(SLC16A2):c.326G>A:p.Trp109Ter	coding	Pathogenic
X	74421964	G	A	G74421964A	SLC16A2	NM_006517.5(SLC16A2):c.327G>A:p.Trp109Ter	coding	Pathogenic
X	74421996	C	T	C74421996T	SLC16A2	NM_006517.5(SLC16A2):c.359C>T:p.Ser120Phe	coding	Pathogenic
X	74422020	T	C	T74422020C	SLC16A2	NM_006517.5(SLC16A2):c.383T>C:p.Leu128Pro	coding	Pathogenic
X	74520667	T	C	T74520667C	SLC16A2	NM_006517.5(SLC16A2):c.431-323T>C	noncoding	Benign
X	74520993	G	A	G74520993A	SLC16A2	NM_006517.5(SLC16A2):c.434G>A:p.Trp145Ter	coding	Pathogenic
X	74520998	G	A	G74520998A	SLC16A2	NM_006517.5(SLC16A2):c.439G>A:p.Gly147Arg	coding	Pathogenic
X	74521006	C	T	C74521006T	SLC16A2	NM_006517.5(SLC16A2):c.447C>T:p.Leu149=	coding	Benign
X	74521008	C	T	C74521008T	SLC16A2	NM_006517.5(SLC16A2):c.449C>T:p.Ala150Val	coding	Pathogenic
X	74521070	C	T	C74521070T	SLC16A2	NM_006517.5(SLC16A2):c.511C>T:p.Arg171Ter	coding	Pathogenic
X	74524358	G	A	G74524358A	SLC16A2	NM_006517.5(SLC16A2):c.576-1G>A	noncoding	Pathogenic
X	74524417	G	A	G74524417A	SLC16A2	NM_006517.5(SLC16A2):c.634G>A:p.Ala212Thr	coding	Benign
X	74524427	C	A	C74524427A	SLC16A2	NM_006517.5(SLC16A2):c.644C>A:p.Pro215Gln	coding	Pathogenic
X	74524506	T	C	T74524506C	SLC16A2	NM_006517.5(SLC16A2):c.723T>C:p.Ile241=	coding	Benign
X	74524564	C	T	C74524564T	SLC16A2	NM_006517.5(SLC16A2):c.781C>T:p.Gln261Ter	coding	Pathogenic
X	74524656	A	T	A74524656T	SLC16A2	NM_006517.5(SLC16A2):c.873A>T:p.Pro291=	coding	Benign
X	74524672	C	A	C74524672A	SLC16A2	NM_006517.5(SLC16A2):c.889C>A:p.Arg297Ser	coding	Pathogenic
X	74524699	C	T	C74524699T	SLC16A2	NM_006517.5(SLC16A2):c.916C>T:p.Gln306Ter	coding	Pathogenic
X	74524723	C	T	C74524723T	SLC16A2	NM_006517.5(SLC16A2):c.940C>T:p.Arg314Ter	coding	Pathogenic
X	74524810	G	T	G74524810T	SLC16A2	NM_006517.5(SLC16A2):c.1026+1G>T	coding	Pathogenic
X	74525802	T	G	T74525802G	SLC16A2	NM_006517.5(SLC16A2):c.1079T>G:p.Leu360Trp	coding	Pathogenic
X	74525834	C	T	C74525834T	SLC16A2	NM_006517.5(SLC16A2):c.1111C>T:p.Arg371Cys	coding	Pathogenic/Likely_pathogenic
X	74525844	C	A	C74525844A	SLC16A2	NM_006517.5(SLC16A2):c.1121C>A:p.Ser374Ter	coding	Pathogenic
X	74529232	T	C	T74529232C	SLC16A2	NM_006517.5(SLC16A2):c.1190T>C:p.Leu397Pro	coding	Pathogenic
X	74529295	T	C	T74529295C	SLC16A2	NM_006517.5(SLC16A2):c.1253T>C:p.Leu418Pro	coding	Pathogenic
X	74529304	G	T	G74529304T	SLC16A2	NM_006517.5(SLC16A2):c.1262G>T:p.Gly421Val	coding	Pathogenic
X	74529355	T	C	T74529355C	SLC16A2	NM_006517.5(SLC16A2):c.1313T>C:p.Leu438Pro	coding	Pathogenic
X	74531382	C	T	C74531382T	SLC16A2	NM_006517.5(SLC16A2):c.1449C>T:p.Ala483=	coding	Benign
X	74531414	T	C	T74531414C	SLC16A2	NM_006517.5(SLC16A2):c.1481T>C:p.Leu494Pro	coding	Pathogenic
X	74591484	G	A	G74591484A	RLIM	NM_016120.4(RLIM):c.1831C>T:p.Arg611Cys	coding	Pathogenic
X	74591520	G	A	G74591520A	RLIM	NM_016120.4(RLIM):c.1795C>T:p.Arg599Cys	coding	Pathogenic
X	74591523	C	T	C74591523T	RLIM	NM_016120.4(RLIM):c.1792G>A:p.Asp598Asn	coding	Pathogenic
X	74591555	G	C	G74591555C	RLIM	NM_016120.4(RLIM):c.1760C>G:p.Pro587Arg	coding	Pathogenic
X	74591904	A	G	A74591904G	RLIM	NM_016120.4(RLIM):c.1411T>C:p.Ser471Pro	coding	Benign
X	74591920	C	T	C74591920T	RLIM	NM_016120.4(RLIM):c.1395G>A:p.Ser465=	coding	Benign
X	74592156	G	A	G74592156A	RLIM	NM_016120.4(RLIM):c.1159C>T:p.Arg387Cys	coding	Pathogenic
X	74592222	G	A	G74592222A	RLIM	NM_016120.4(RLIM):c.1093C>T:p.Arg365Cys	coding	Pathogenic
X	74592248	T	C	T74592248C	RLIM	NM_016120.4(RLIM):c.1067A>G:p.Tyr356Cys	coding	Pathogenic/Likely_pathogenic
X	74592538	C	T	C74592538T	RLIM	NM_016120.4(RLIM):c.777G>A:p.Thr259=	coding	Benign/Likely_benign
X	74592782	T	G	T74592782G	RLIM	NM_016120.4(RLIM):c.533A>C:p.Asn178Thr	coding	Benign
X	74594319	T	G	T74594319G	RLIM	NM_016120.4(RLIM):c.240A>C:p.Ser80=	coding	Benign
X	74595912	C	T	C74595912T	RLIM	NM_016120.4(RLIM):c.66G>A:p.Gln22=	coding	Benign
X	74739447	A	G	A74739447G	NEXMIF	NM_001008537.3(NEXMIF):c.4509T>C:p.Pro1503=	coding	Benign/Likely_benign
X	74739464	T	C	T74739464C	NEXMIF	NM_001008537.3(NEXMIF):c.4492A>G:p.Thr1498Ala	coding	Benign
X	74740135	C	T	C74740135T	NEXMIF	NM_001008537.3(NEXMIF):c.4422G>A:p.Lys1474=	coding	Benign
X	74740232	G	A	G74740232A	NEXMIF	NM_001008537.3(NEXMIF):c.4325C>T:p.Pro1442Leu	coding	Benign
X	74740311	G	A	G74740311A	NEXMIF	NM_001008537.3(NEXMIF):c.4246C>T:p.Pro1416Ser	coding	Benign
X	74740322	C	T	C74740322T	NEXMIF	NM_001008537.3(NEXMIF):c.4235G>A:p.Arg1412His	coding	Benign
X	74740352	T	C	T74740352C	NEXMIF	NM_001008537.3(NEXMIF):c.4205A>G:p.Asn1402Ser	coding	Benign/Likely_benign
X	74740492	G	A	G74740492A	NEXMIF	NM_001008537.3(NEXMIF):c.4065C>T:p.Tyr1355=	coding	Benign
X	74740737	G	A	G74740737A	NEXMIF	NM_001008537.3(NEXMIF):c.3820C>T:p.Pro1274Ser	coding	Benign
X	74740759	G	A	G74740759A	NEXMIF	NM_001008537.3(NEXMIF):c.3798C>T:p.Gly1266=	coding	Benign
X	74740804	T	C	T74740804C	NEXMIF	NM_001008537.3(NEXMIF):c.3753A>G:p.Ile1251Met	coding	Benign/Likely_benign
X	74740848	T	A	T74740848A	NEXMIF	NM_001008537.3(NEXMIF):c.3709A>T:p.Met1237Leu	coding	Benign/Likely_benign
X	74741002	C	A	C74741002A	NEXMIF	NM_001008537.3(NEXMIF):c.3555G>T:p.Gly1185=	coding	Benign/Likely_benign
X	74741033	G	T	G74741033T	NEXMIF	NM_001008537.3(NEXMIF):c.3524C>A:p.Ser1175Ter	coding	Pathogenic
X	74741064	G	A	G74741064A	NEXMIF	NM_001008537.3(NEXMIF):c.3493C>T:p.Gln1165Ter	coding	Pathogenic
X	74741087	G	T	G74741087T	NEXMIF	NM_001008537.3(NEXMIF):c.3470C>A:p.Ser1157Ter	coding	Pathogenic
X	74741196	G	A	G74741196A	NEXMIF	NM_001008537.3(NEXMIF):c.3361C>T:p.Arg1121Trp	coding	Benign
X	74741415	C	A	C74741415A	NEXMIF	NM_001008537.3(NEXMIF):c.3142G>T:p.Glu1048Ter	coding	Pathogenic
X	74741573	G	T	G74741573T	NEXMIF	NM_001008537.3(NEXMIF):c.2984C>A:p.Ser995Ter	coding	Pathogenic
X	74741706	C	T	C74741706T	NEXMIF	NM_001008537.3(NEXMIF):c.2851G>A:p.Asp951Asn	coding	Benign
X	74741708	T	A	T74741708A	NEXMIF	NM_001008537.3(NEXMIF):c.2849A>T:p.Tyr950Phe	coding	Benign
X	74741756	T	C	T74741756C	NEXMIF	NM_001008537.3(NEXMIF):c.2801A>G:p.Asn934Ser	coding	Benign
X	74741762	G	C	G74741762C	NEXMIF	NM_001008537.3(NEXMIF):c.2795C>G:p.Thr932Arg	coding	Benign
X	74741888	G	A	G74741888A	NEXMIF	NM_001008537.3(NEXMIF):c.2669C>T:p.Pro890Leu	coding	Benign/Likely_benign
X	74741959	G	T	G74741959T	NEXMIF	NM_001008537.3(NEXMIF):c.2598C>A:p.Ser866=	coding	Benign
X	74742125	G	A	G74742125A	NEXMIF	NM_001008537.3(NEXMIF):c.2432C>T:p.Pro811Leu	coding	Benign
X	74742146	G	C	G74742146C	NEXMIF	NM_001008537.3(NEXMIF):c.2411C>G:p.Thr804Ser	coding	Benign
X	74742184	T	G	T74742184G	NEXMIF	NM_001008537.3(NEXMIF):c.2373A>C:p.Thr791=	coding	Benign/Likely_benign
X	74742242	C	T	C74742242T	NEXMIF	NM_001008537.3(NEXMIF):c.2315G>A:p.Arg772His	coding	Benign
X	74742403	A	G	A74742403G	NEXMIF	NM_001008537.3(NEXMIF):c.2154T>C:p.Asn718=	coding	Benign
X	74742418	C	T	C74742418T	NEXMIF	NM_001008537.3(NEXMIF):c.2139G>A:p.Glu713=	coding	Benign/Likely_benign
X	74742420	C	A	C74742420A	NEXMIF	NM_001008537.3(NEXMIF):c.2137G>T:p.Glu713Ter	coding	Pathogenic
X	74742459	C	G	C74742459G	NEXMIF	NM_001008537.3(NEXMIF):c.2098G>C:p.Val700Leu	coding	Benign/Likely_benign
X	74742596	G	T	G74742596T	NEXMIF	NM_001008537.3(NEXMIF):c.1961C>A:p.Ser654Ter	coding	Pathogenic
X	74742624	C	A	C74742624A	NEXMIF	NM_001008537.3(NEXMIF):c.1933G>T:p.Glu645Ter	coding	Pathogenic
X	74742675	G	A	G74742675A	NEXMIF	NM_001008537.3(NEXMIF):c.1882C>T:p.Arg628Ter	coding	Pathogenic
X	74742841	C	A	C74742841A	NEXMIF	NM_001008537.3(NEXMIF):c.1716G>T:p.Glu572Asp	coding	Benign
X	74742845	C	T	C74742845T	NEXMIF	NM_001008537.3(NEXMIF):c.1712G>A:p.Ser571Asn	coding	Benign
X	74742988	C	T	C74742988T	NEXMIF	NM_001008537.3(NEXMIF):c.1569G>A:p.Trp523Ter	coding	Pathogenic
X	74743064	G	T	G74743064T	NEXMIF	NM_001008537.3(NEXMIF):c.1493C>A:p.Ser498Ter	coding	Pathogenic
X	74743116	G	A	G74743116A	NEXMIF	NM_001008537.3(NEXMIF):c.1441C>T:p.Arg481Ter	coding	Pathogenic
X	74743131	G	A	G74743131A	NEXMIF	NM_001008537.3(NEXMIF):c.1426C>T:p.Gln476Ter	coding	Pathogenic
X	74743250	G	T	G74743250T	NEXMIF	NM_001008537.3(NEXMIF):c.1307C>A:p.Ser436Ter	coding	Pathogenic
X	74743257	C	A	C74743257A	NEXMIF	NM_001008537.3(NEXMIF):c.1300G>T:p.Glu434Ter	coding	Pathogenic
X	74743396	C	G	C74743396G	NEXMIF	NM_001008537.3(NEXMIF):c.1161G>C:p.Glu387Asp	coding	Benign
X	74743425	T	C	T74743425C	NEXMIF	NM_001008537.3(NEXMIF):c.1132A>G:p.Lys378Glu	coding	Benign
X	74743439	C	T	C74743439T	NEXMIF	NM_001008537.3(NEXMIF):c.1118G>A:p.Trp373Ter	coding	Pathogenic
X	74743515	G	A	G74743515A	NEXMIF	NM_001008537.3(NEXMIF):c.1042C>T:p.Arg348Ter	coding	Pathogenic
X	74743593	G	A	G74743593A	NEXMIF	NM_001008537.3(NEXMIF):c.964C>T:p.Arg322Ter	coding	Pathogenic
X	74743615	A	C	A74743615C	NEXMIF	NM_001008537.3(NEXMIF):c.942T>G:p.Tyr314Ter	coding	Pathogenic
X	74743620	G	A	G74743620A	NEXMIF	NM_001008537.3(NEXMIF):c.937C>T:p.Arg313Ter	coding	Pathogenic
X	74743702	T	C	T74743702C	NEXMIF	NM_001008537.3(NEXMIF):c.855A>G:p.Leu285=	coding	Benign
X	74743784	C	T	C74743784T	NEXMIF	NM_001008537.3(NEXMIF):c.773G>A:p.Trp258Ter	coding	Pathogenic
X	74743791	G	A	G74743791A	NEXMIF	NM_001008537.3(NEXMIF):c.766C>T:p.Gln256Ter	coding	Pathogenic
X	74743875	C	A	C74743875A	NEXMIF	NM_001008537.3(NEXMIF):c.682G>T:p.Glu228Ter	coding	Pathogenic
X	74743905	G	A	G74743905A	NEXMIF	NM_001008537.3(NEXMIF):c.652C>T:p.Arg218Ter	coding	Pathogenic
X	74743922	G	C	G74743922C	NEXMIF	NM_001008537.3(NEXMIF):c.635C>G:p.Ser212Ter	coding	Pathogenic
X	74743968	C	A	C74743968A	NEXMIF	NM_001008537.3(NEXMIF):c.589G>T:p.Glu197Ter	coding	Pathogenic
X	74744119	G	T	G74744119T	NEXMIF	NM_001008537.3(NEXMIF):c.438C>A:p.Cys146Ter	coding	Pathogenic
X	74744196	C	A	C74744196A	NEXMIF	NM_001008537.3(NEXMIF):c.361G>T:p.Ala121Ser	coding	Benign
X	74744221	C	T	C74744221T	NEXMIF	NM_001008537.3(NEXMIF):c.336G>A:p.Trp112Ter	coding	Pathogenic
X	74744251	T	A	T74744251A	NEXMIF	NM_001008537.3(NEXMIF):c.306A>T:p.Thr102=	coding	Benign
X	74744292	G	A	G74744292A	NEXMIF	NM_001008537.3(NEXMIF):c.265C>T:p.His89Tyr	coding	Benign
X	74744403	C	T	C74744403T	NEXMIF	NM_001008537.3(NEXMIF):c.154G>A:p.Val52Met	coding	Benign
X	74744406	G	T	G74744406T	NEXMIF	NM_001008537.3(NEXMIF):c.151C>A:p.Pro51Thr	coding	Benign/Likely_benign
X	74745579	T	C	T74745579C	NEXMIF	NM_001008537.3(NEXMIF):c.72A>G:p.Lys24=	coding	Benign
X	75060206	A	T	A75060206T	ABCB7	NM_001271696.3(ABCB7):c.2043+17T>A	noncoding	Benign
X	75062320	T	C	T75062320C	ABCB7	NM_001271696.3(ABCB7):c.1935+8A>G	noncoding	Benign
X	75065137	A	G	A75065137G	ABCB7	NM_001271696.3(ABCB7):c.1764T>C:p.His588=	coding	Benign/Likely_benign
X	75065161	T	C	T75065161C	ABCB7	NM_001271696.3(ABCB7):c.1740A>G:p.Ala580=	coding	Benign
X	75065162	G	A	G75065162A	ABCB7	NM_001271696.3(ABCB7):c.1739C>T:p.Ala580Val	coding	Benign
X	75069328	C	T	C75069328T	ABCB7	NM_001271696.3(ABCB7):c.1492G>A:p.Gly498Arg	coding	Benign/Likely_benign
X	75070433	C	T	C75070433T	ABCB7	NM_001271696.3(ABCB7):c.1297G>A:p.Glu433Lys	coding	Pathogenic
X	75070499	C	G	C75070499G	ABCB7	NM_001271696.3(ABCB7):c.1231G>C:p.Val411Leu	coding	Pathogenic
X	75071516	A	C	A75071516C	ABCB7	NM_001271696.3(ABCB7):c.1200T>G:p.Ile400Met	coding	Pathogenic
X	75071542	T	C	T75071542C	ABCB7	NM_001271696.3(ABCB7):c.1174A>G:p.Ile392Val	coding	Benign/Likely_benign
X	75071630	C	T	C75071630T	ABCB7	NM_001271696.3(ABCB7):c.1086G>A:p.Thr362=	coding	Benign
X	75073677	T	C	T75073677C	ABCB7	NM_001271696.3(ABCB7):c.1032+12A>G	noncoding	Benign
X	75073783	G	A	G75073783A	ABCB7	NM_001271696.3(ABCB7):c.945-7C>T	noncoding	Benign/Likely_benign
X	75073874	C	T	C75073874T	ABCB7	NM_001271696.3(ABCB7):c.938G>A:p.Arg313Gln	coding	Benign/Likely_benign
X	75075593	T	A	T75075593A	ABCB7	NM_001271696.3(ABCB7):c.624A>T:p.Glu208Asp	coding	Pathogenic
X	75075810	C	T	C75075810T	ABCB7	NM_001271696.3(ABCB7):c.587-180G>A	noncoding	Benign
X	75112907	G	A	G75112907A	ABCB7	NM_001271696.3(ABCB7):c.312C>T:p.Leu104=	coding	Benign
X	75114789	T	C	T75114789C	ABCB7	NM_001271696.3(ABCB7):c.211A>G:p.Lys71Glu	coding	Benign
X	75114799	C	G	C75114799G	ABCB7	NM_001271696.3(ABCB7):c.201G>C:p.Gln67His	coding	Benign
X	75379158	T	C	T75379158C	ZDHHC15	NM_144969.3(ZDHHC15):c.1008A>G:p.Glu336=	coding	Benign
X	75421896	C	G	C75421896G	ZDHHC15	NM_144969.3(ZDHHC15):c.831G>C:p.Lys277Asn	coding	Benign
X	75421980	G	A	G75421980A	ZDHHC15	NM_144969.3(ZDHHC15):c.747C>T:p.Cys249=	coding	Benign
X	75783840	T	C	T75783840C	MAGEE2	NM_138703.5(MAGEE2):c.1212A>G:p.Val404=	coding	Benign
X	75784341	C	T	C75784341T	MAGEE2	NM_138703.5(MAGEE2):c.711G>A:p.Glu237=	coding	Benign
X	76428304	G	A	G76428304A	MAGEE1	NM_020932.3(MAGEE1):c.374G>A:p.Cys125Tyr	coding	Benign
X	77456368	C	A	C77456368A	FGF16	NM_003868.3(FGF16):c.470C>A:p.Ser157Ter	coding	Pathogenic
X	77456433	C	T	C77456433T	FGF16	NM_003868.3(FGF16):c.535C>T:p.Arg179Ter	coding	Pathogenic
X	77508574	T	C	T77508574C	ATRX	NM_000489.5(ATRX):c.7256A>G:p.Asn2419Ser	coding	Benign
X	77508576	G	A	G77508576A	ATRX	NM_000489.5(ATRX):c.7254C>T:p.Tyr2418=	coding	Benign
X	77508631	T	C	T77508631C	ATRX	NM_000489.5(ATRX):c.7201-2A>G	noncoding	Pathogenic
X	77520826	C	A	C77520826A	ATRX	NM_000489.5(ATRX):c.7162G>T:p.Glu2388Ter	coding	Pathogenic
X	77520832	G	A	G77520832A	ATRX	NM_000489.5(ATRX):c.7156C>T:p.Arg2386Ter	coding	Pathogenic
X	77520847	C	A	C77520847A	ATRX	NM_000489.6(ATRX):c.7141G>T:p.Glu2381Ter	coding	Pathogenic
X	77520905	G	A	G77520905A	ATRX	NM_000489.5(ATRX):c.7083C>T:p.Asn2361=	coding	Benign/Likely_benign
X	77522365	T	C	T77522365C	ATRX	NM_000489.5(ATRX):c.6873A>G:p.Ile2291Met	coding	Benign
X	77522369	T	C	T77522369C	ATRX	NM_000489.5(ATRX):c.6869A>G:p.Asn2290Ser	coding	Benign/Likely_benign
X	77523290	T	C	T77523290C	ATRX	NM_000489.5(ATRX):c.6811A>G:p.Arg2271Gly	coding	Pathogenic
X	77558685	T	C	T77558685C	ATRX	NM_000489.5(ATRX):c.6488A>G:p.Tyr2163Cys	coding	Pathogenic
X	77558768	G	A	G77558768A	ATRX	NM_000489.5(ATRX):c.6405C>T:p.Phe2135=	coding	Benign/Likely_benign
X	77558781	C	T	C77558781T	ATRX	NM_000489.5(ATRX):c.6392G>A:p.Arg2131Gln	coding	Pathogenic
X	77574322	C	T	C77574322T	ATRX	NM_000489.5(ATRX):c.6254G>A:p.Arg2085His	coding	Pathogenic/Likely_pathogenic
X	77574326	A	G	A77574326G	ATRX	NM_000489.5(ATRX):c.6250T>C:p.Tyr2084His	coding	Pathogenic
X	77589929	C	T	C77589929T	ATRX	NM_000489.5(ATRX):c.6122G>A:p.Ser2041Asn	coding	Pathogenic
X	77593702	T	A	T77593702A	ATRX	NM_000489.5(ATRX):c.6104A>T:p.Asp2035Val	coding	Pathogenic
X	77593782	A	G	A77593782G	ATRX	NM_000489.5(ATRX):c.6024T>C:p.Asp2008=	coding	Benign
X	77593803	C	T	C77593803T	ATRX	NM_000489.5(ATRX):c.6003G>A:p.Trp2001Ter	coding	Pathogenic
X	77593850	C	T	C77593850T	ATRX	NM_000489.5(ATRX):c.5957-1G>A	coding	Pathogenic
X	77593858	G	C	G77593858C	ATRX	NM_000489.5(ATRX):c.5957-9C>G	noncoding	Benign
X	77600552	T	C	T77600552C	ATRX	NM_000489.5(ATRX):c.5579A>G:p.Asn1860Ser	coding	Benign/Likely_benign
X	77616608	T	G	T77616608G	ATRX	NM_000489.5(ATRX):c.5566+5A>C	noncoding	Benign
X	77616686	G	A	G77616686A	ATRX	NM_000489.5(ATRX):c.5493C>T:p.His1831=	coding	Benign
X	77618905	T	C	T77618905C	ATRX	NM_000489.5(ATRX):c.5349A>G:p.Pro1783=	coding	Benign/Likely_benign
X	77620442	C	T	C77620442T	ATRX	NM_000489.5(ATRX):c.5225G>A:p.Arg1742Lys	coding	Pathogenic
X	77620446	T	G	T77620446G	ATRX	NM_000489.5(ATRX):c.5221A>C:p.Arg1741=	coding	Benign
X	77633210	G	A	G77633210A	ATRX	NM_000489.5(ATRX):c.5131C>T:p.Pro1711Ser	coding	Pathogenic
X	77633268	T	C	T77633268C	ATRX	NM_000489.5(ATRX):c.5073A>G:p.Gln1691=	coding	Benign
X	77633302	A	G	A77633302G	ATRX	NM_000489.5(ATRX):c.5039T>C:p.Ile1680Thr	coding	Pathogenic
X	77633572	C	A	C77633572A	ATRX	NM_000489.5(ATRX):c.4950G>T:p.Lys1650Asn	coding	Pathogenic
X	77633657	G	A	G77633657A	ATRX	NM_000489.5(ATRX):c.4865C>T:p.Ala1622Val	coding	Pathogenic
X	77633660	G	A	G77633660A	ATRX	NM_000489.5(ATRX):c.4862C>T:p.Thr1621Met	coding	Pathogenic
X	77633682	A	G	A77633682G	ATRX	NM_000489.5(ATRX):c.4840T>C:p.Cys1614Arg	coding	Pathogenic
X	77633696	T	C	T77633696C	ATRX	NM_000489.5(ATRX):c.4826A>G:p.His1609Arg	coding	Pathogenic
X	77634693	A	G	A77634693G	ATRX	NM_000489.5(ATRX):c.4710T>C:p.Phe1570=	coding	Benign
X	77635955	A	G	A77635955G	ATRX	NM_000489.5(ATRX):c.4659T>C:p.His1553=	coding	Benign
X	77635979	G	T	G77635979T	ATRX	NM_000489.5(ATRX):c.4635C>A:p.Thr1545=	coding	Benign
X	77636059	A	C	A77636059C	ATRX	NM_000489.5(ATRX):c.4558-3T>G	noncoding	Pathogenic
X	77654098	C	T	C77654098T	ATRX	NM_000489.5(ATRX):c.4317G>A:p.Lys1439=	coding	Pathogenic
X	77654176	T	C	T77654176C	ATRX	NM_000489.5(ATRX):c.4239A>G:p.Glu1413=	coding	Benign/Likely_benign
X	77654205	C	T	C77654205T	ATRX	NM_000489.5(ATRX):c.4215-5G>A	noncoding	Benign
X	77656554	T	C	T77656554C	ATRX	NM_000489.5(ATRX):c.4214+6A>G	noncoding	Benign
X	77663433	T	A	T77663433A	ATRX	NM_000489.6(ATRX):c.4069A>T:p.Lys1357Ter	coding	Pathogenic
X	77663524	T	C	T77663524C	ATRX	NM_000489.5(ATRX):c.3978A>G:p.Ser1326=	coding	Benign
X	77663560	T	C	T77663560C	ATRX	NM_000489.6(ATRX):c.3944-2A>G	noncoding	Pathogenic
X	77664708	C	G	C77664708G	ATRX	NM_000489.5(ATRX):c.3880G>C:p.Asp1294His	coding	Benign
X	77681610	T	C	T77681610C	ATRX	NM_000489.5(ATRX):c.3646A>G:p.Ile1216Val	coding	Benign
X	77681615	T	A	T77681615A	ATRX	NM_000489.5(ATRX):c.3641A>T:p.Asn1214Ile	coding	Benign
X	77681634	T	C	T77681634C	ATRX	NM_000489.5(ATRX):c.3622A>G:p.Ile1208Val	coding	Benign
X	77681715	C	G	C77681715G	ATRX	NM_000489.5(ATRX):c.3541G>C:p.Val1181Leu	coding	Benign/Likely_benign
X	77681950	C	T	C77681950T	ATRX	NM_000489.5(ATRX):c.3306G>A:p.Arg1102=	coding	Benign
X	77682038	C	G	C77682038G	ATRX	NM_000489.5(ATRX):c.3218G>C:p.Ser1073Thr	coding	Benign
X	77682286	T	C	T77682286C	ATRX	NM_000489.5(ATRX):c.2970A>G:p.Glu990=	coding	Benign
X	77682333	C	T	C77682333T	ATRX	NM_000489.5(ATRX):c.2923G>A:p.Asp975Asn	coding	Benign
X	77682471	C	G	C77682471G	ATRX	NM_000489.5(ATRX):c.2785G>C:p.Glu929Gln	coding	Benign
X	77682536	C	T	C77682536T	ATRX	NM_000489.5(ATRX):c.2720G>A:p.Arg907Gln	coding	Benign/Likely_benign
X	77682555	T	C	T77682555C	ATRX	NM_000489.5(ATRX):c.2701A>G:p.Ile901Val	coding	Benign
X	77682559	C	T	C77682559T	ATRX	NM_000489.5(ATRX):c.2697G>A:p.Thr899=	coding	Benign
X	77682600	C	G	C77682600G	ATRX	NM_000489.5(ATRX):c.2656G>C:p.Glu886Gln	coding	Benign
X	77682606	C	T	C77682606T	ATRX	NM_000489.5(ATRX):c.2650G>A:p.Glu884Lys	coding	Benign/Likely_benign
X	77682608	T	C	T77682608C	ATRX	NM_000489.5(ATRX):c.2648A>G:p.Gln883Arg	coding	Benign
X	77682661	G	C	G77682661C	ATRX	NM_000489.5(ATRX):c.2595C>G:p.His865Gln	coding	Benign
X	77682716	A	G	A77682716G	ATRX	NM_000489.5(ATRX):c.2540T>C:p.Phe847Ser	coding	Benign
X	77682725	G	T	G77682725T	ATRX	NM_000489.5(ATRX):c.2531C>A:p.Thr844Lys	coding	Benign
X	77682732	G	A	G77682732A	ATRX	NM_000489.5(ATRX):c.2524C>T:p.Pro842Ser	coding	Benign
X	77682762	C	T	C77682762T	ATRX	NM_000489.5(ATRX):c.2494G>A:p.Gly832Ser	coding	Benign
X	77682833	C	T	C77682833T	ATRX	NM_000489.5(ATRX):c.2423G>A:p.Arg808Gln	coding	Benign
X	77683032	T	C	T77683032C	ATRX	NM_000489.5(ATRX):c.2224A>G:p.Ser742Gly	coding	Benign
X	77683087	C	G	C77683087G	ATRX	NM_000489.5(ATRX):c.2169G>C:p.Glu723Asp	coding	Benign/Likely_benign
X	77683138	A	T	A77683138T	ATRX	NM_000489.5(ATRX):c.2118T>A:p.Ser706Arg	coding	Benign
X	77683142	T	C	T77683142C	ATRX	NM_000489.5(ATRX):c.2114A>G:p.Asp705Gly	coding	Benign
X	77683256	G	A	G77683256A	ATRX	NM_000489.5(ATRX):c.2000C>T:p.Pro667Leu	coding	Benign/Likely_benign
X	77683431	G	C	G77683431C	ATRX	NM_000489.5(ATRX):c.1825C>G:p.Pro609Ala	coding	Benign
X	77683503	C	A	C77683503A	ATRX	NM_000489.5(ATRX):c.1753G>T:p.Glu585Ter	coding	Pathogenic
X	77683529	G	C	G77683529C	ATRX	NM_000489.6(ATRX):c.1727C>G:p.Ser576Ter	coding	Pathogenic
X	77683529	G	T	G77683529T	ATRX	NM_000489.6(ATRX):c.1727C>A:p.Ser576Ter	coding	Pathogenic
X	77683623	G	C	G77683623C	ATRX	NM_000489.5(ATRX):c.1633C>G:p.Gln545Glu	coding	Benign
X	77683789	G	A	G77683789A	ATRX	NM_000489.5(ATRX):c.1467C>T:p.Thr489=	coding	Benign/Likely_benign
X	77683808	T	G	T77683808G	ATRX	NM_000489.5(ATRX):c.1448A>C:p.Gln483Pro	coding	Benign
X	77683810	T	G	T77683810G	ATRX	NM_000489.5(ATRX):c.1446A>C:p.Glu482Asp	coding	Benign
X	77683833	G	C	G77683833C	ATRX	NM_000489.5(ATRX):c.1423C>G:p.His475Asp	coding	Benign
X	77683999	C	T	C77683999T	ATRX	NM_000489.5(ATRX):c.1257G>A:p.Ala419=	coding	Benign
X	77684011	G	A	G77684011A	ATRX	NM_000489.5(ATRX):c.1245C>T:p.Ser415=	coding	Benign
X	77684030	A	G	A77684030G	ATRX	NM_000489.5(ATRX):c.1226T>C:p.Leu409Ser	coding	Pathogenic
X	77684209	G	C	G77684209C	ATRX	NM_000489.5(ATRX):c.1047C>G:p.Pro349=	coding	Benign
X	77684224	G	A	G77684224A	ATRX	NM_000489.5(ATRX):c.1032C>T:p.Ser344=	coding	Benign
X	77684410	G	A	G77684410A	ATRX	NM_000489.5(ATRX):c.846C>T:p.Ser282=	coding	Benign/Likely_benign
X	77684458	G	A	G77684458A	ATRX	NM_000489.5(ATRX):c.798C>T:p.Tyr266=	coding	Benign
X	77684505	T	C	T77684505C	ATRX	NM_000489.5(ATRX):c.751A>G:p.Lys251Glu	coding	Pathogenic
X	77684520	G	A	G77684520A	ATRX	NM_000489.5(ATRX):c.736C>T:p.Arg246Cys	coding	Pathogenic
X	77684545	A	G	A77684545G	ATRX	NM_000489.5(ATRX):c.711T>C:p.Asn237=	coding	Benign
X	77684942	C	T	C77684942T	ATRX	NM_000489.5(ATRX):c.659G>A:p.Cys220Tyr	coding	Pathogenic
X	77684947	T	C	T77684947C	ATRX	NM_000489.5(ATRX):c.654A>G:p.Glu218=	coding	Benign/Likely_benign
X	77685002	C	A	C77685002A	ATRX	NM_000489.5(ATRX):c.599G>T:p.Cys200Phe	coding	Pathogenic
X	77688842	A	C	A77688842C	ATRX	NM_000489.5(ATRX):c.570T>G:p.Pro190=	coding	Benign/Likely_benign
X	77688876	T	C	T77688876C	ATRX	NM_000489.5(ATRX):c.536A>G:p.Asn179Ser	coding	Pathogenic
X	77688895	C	T	C77688895T	ATRX	NM_000489.5(ATRX):c.517G>A:p.Ala173Thr	coding	Pathogenic
X	77696659	T	C	T77696659C	ATRX	NM_000489.5(ATRX):c.288A>G:p.Lys96=	coding	Benign
X	77697589	G	C	G77697589C	ATRX	NM_000489.5(ATRX):c.236C>G:p.Ser79Ter	coding	Pathogenic
X	77697597	C	T	C77697597T	ATRX	NM_000489.5(ATRX):c.228G>A:p.Ser76=	coding	Benign
X	77698567	T	C	T77698567C	ATRX	NM_000489.5(ATRX):c.189+7A>G	noncoding	Benign/Likely_benign
X	77698573	C	T	C77698573T	ATRX	NM_000489.5(ATRX):c.189+1G>A	noncoding	Pathogenic
X	77698583	G	A	G77698583A	ATRX	NM_000489.6(ATRX):c.180C>T:p.Ser60=	coding	Benign
X	77698631	T	C	T77698631C	ATRX	NM_000489.5(ATRX):c.134-2A>G	noncoding	Pathogenic
X	77717155	G	A	G77717155A	ATRX	NM_000489.5(ATRX):c.109C>T:p.Arg37Ter	coding	Pathogenic/Likely_pathogenic
X	77785981	C	T	C77785981T	ATRX	NM_000489.5(ATRX):c.20+1G>A	noncoding	Pathogenic
X	77785990	C	T	C77785990T	ATRX	NM_000489.5(ATRX):c.12G>A:p.Glu4=	coding	Benign/Likely_benign
X	77786015	C	T	C77786015T	ATRX	NM_000489.5(ATRX):c.-14G>A	noncoding	Benign
X	77830825	T	G	T77830825G	MAGT1	NM_001367916.1(MAGT1):c.972A>C:p.Lys324Asn	coding	Pathogenic
X	77830849	C	T	C77830849T	MAGT1	NM_001367916.1(MAGT1):c.948G>A:p.Trp316Ter	coding	Pathogenic
X	77830865	A	C	A77830865C	MAGT1	NM_001367916.1(MAGT1):c.932T>G:p.Val311Gly	coding	Benign
X	77841252	G	A	G77841252A	MAGT1	NM_001367916.1(MAGT1):c.895C>T:p.Arg299Ter	coding	Pathogenic
X	77841305	A	C	A77841305C	MAGT1	NM_001367916.1(MAGT1):c.842T>G:p.Leu281Ter	coding	Pathogenic
X	77856754	A	T	A77856754T	MAGT1	NM_001367916.1(MAGT1):c.651T>A:p.Thr217=	coding	Benign
X	77856789	G	A	G77856789A	MAGT1	NM_001367916.1(MAGT1):c.616C>T:p.Arg206Ter	coding	Pathogenic
X	77857377	C	T	C77857377T	MAGT1	NM_001367916.1(MAGT1):c.511G>A:p.Ala171Thr	coding	Benign
X	77870856	T	A	T77870856A	MAGT1	NM_001367916.1(MAGT1):c.342A>T:p.Ile114=	coding	Benign
X	77870885	G	A	G77870885A	MAGT1	NM_001367916.1(MAGT1):c.313C>T:p.Arg105Ter	coding	Pathogenic
X	77875493	C	T	C77875493T	MAGT1	NM_001367916.1(MAGT1):c.207G>A:p.Pro69=	coding	Benign
X	77875573	G	A	G77875573A	MAGT1	NM_001367916.1(MAGT1):c.127C>T:p.Gln43Ter	coding	Pathogenic
X	77895394	C	G	C77895394G	MAGT1	NM_001367916.1(MAGT1):c.17G>C:p.Arg6Pro	coding	Benign
X	77895397	C	T	C77895397T	MAGT1	NM_001367916.1(MAGT1):c.14G>A:p.Trp5Ter	coding	Pathogenic
X	77895426	T	C	T77895426C	MAGT1	NM_001367916.1(MAGT1):c.-16A>G	coding	Benign
X	77895440	C	T	C77895440T	MAGT1	NM_032121.5(MAGT1):c.67G>A:p.Val23Ile	coding	Benign/Likely_benign
X	77895504	C	T	C77895504T	MAGT1	NM_032121.5(MAGT1):c.3G>A:p.Met1Ile	coding	Benign
X	77902641	A	G	A77902641G	COX7B	NM_001866.3(COX7B):c.41-2A>G	noncoding	Pathogenic
X	77902650	C	A	C77902650A	COX7B	NM_001866.3(COX7B):c.48C>A:p.Ser16Arg	coding	Benign
X	77902657	C	T	C77902657T	COX7B	NM_001866.2(COX7B):c.55C>T:p.Gln19Ter	coding	Pathogenic
X	77902777	A	G	A77902777G	COX7B	NM_001866.3(COX7B):c.165+10A>G	noncoding	Benign
X	77910952	T	C	T77910952C	ATP7A	NM_000052.7(ATP7A):c.-22+117T>C	noncoding	Benign
X	77968990	C	T	C77968990T	ATP7A;PGAM4	NM_000052.7(ATP7A):c.-21-2631C>T	coding	Benign
X	77969382	C	T	C77969382T	ATP7A	NM_000052.7(ATP7A):c.-21-2239C>T	coding	Benign
X	77988298	A	G	A77988298G	ATP7A	NM_000052.7(ATP7A):c.177A>G:p.Pro59=	coding	Benign
X	77988330	G	A	G77988330A	ATP7A	NM_000052.7(ATP7A):c.209G>A:p.Gly70Asp	coding	Benign
X	77988360	C	T	C77988360T	ATP7A	NM_000052.7(ATP7A):c.239C>T:p.Pro80Leu	coding	Benign
X	77988403	G	A	G77988403A	ATP7A	NM_000052.7(ATP7A):c.282G>A:p.Ala94=	coding	Benign
X	77988433	A	G	A77988433G	ATP7A	NM_000052.7(ATP7A):c.312A>G:p.Gln104=	coding	Benign
X	77988448	G	A	G77988448A	ATP7A	NM_000052.7(ATP7A):c.327G>A:p.Lys109=	coding	Benign
X	77988494	G	T	G77988494T	ATP7A	NM_000052.7(ATP7A):c.373G>T:p.Val125Leu	coding	Benign
X	77988596	G	A	G77988596A	ATP7A	NM_000052.7(ATP7A):c.475G>A:p.Ala159Thr	coding	Benign
X	77988612	G	A	G77988612A	ATP7A	NM_000052.7(ATP7A):c.491G>A:p.Ser164Asn	coding	Benign
X	77988686	A	G	A77988686G	ATP7A	NM_000052.7(ATP7A):c.565A>G:p.Ile189Val	coding	Benign
X	77988719	C	T	C77988719T	ATP7A	NM_000052.7(ATP7A):c.598C>T:p.Gln200Ter	coding	Pathogenic
X	77988722	C	T	C77988722T	ATP7A	NM_000052.7(ATP7A):c.601C>T:p.Arg201Ter	coding	Pathogenic
X	77988739	G	A	G77988739A	ATP7A	NM_000052.7(ATP7A):c.610+8G>A	noncoding	Benign
X	77989267	T	C	T77989267C	ATP7A	NM_000052.7(ATP7A):c.645T>C:p.Tyr215=	coding	Benign/Likely_benign
X	77989327	A	C	A77989327C	ATP7A	NM_000052.7(ATP7A):c.705A>C:p.Pro235=	coding	Benign
X	77989486	T	C	T77989486C	ATP7A	NM_000052.7(ATP7A):c.864T>C:p.Cys288=	coding	Benign
X	77989628	G	T	G77989628T	ATP7A	NM_000052.7(ATP7A):c.1006G>T:p.Glu336Ter	coding	Pathogenic
X	77989631	G	A	G77989631A	ATP7A	NM_000052.7(ATP7A):c.1009G>A:p.Ala337Thr	coding	Benign/Likely_benign
X	77989635	T	A	T77989635A	ATP7A	NM_000052.7(ATP7A):c.1013T>A:p.Val338Glu	coding	Benign
X	77989642	G	A	G77989642A	ATP7A	NM_000052.7(ATP7A):c.1020G>A:p.Pro340=	coding	Benign
X	77989847	C	T	C77989847T	ATP7A	NM_000052.7(ATP7A):c.1225C>T:p.Arg409Ter	coding	Pathogenic
X	77998576	C	T	C77998576T	ATP7A	NM_000052.7(ATP7A):c.1435C>T:p.Gln479Ter	coding	Pathogenic
X	77998601	C	A	C77998601A	ATP7A	NM_000052.7(ATP7A):c.1460C>A:p.Ser487Ter	coding	Pathogenic
X	77998678	G	T	G77998678T	ATP7A	NM_000052.7(ATP7A):c.1537G>T:p.Glu513Ter	coding	Pathogenic
X	78003072	G	A	G78003072A	ATP7A	NM_000052.7(ATP7A):c.1544-1G>A	noncoding	Pathogenic
X	78003144	C	A	C78003144A	ATP7A	NM_000052.7(ATP7A):c.1615C>A:p.Pro539Thr	coding	Benign
X	78003168	C	T	C78003168T	ATP7A	NM_000052.7(ATP7A):c.1639C>T:p.Arg547Ter	coding	Pathogenic
X	78003237	G	A	G78003237A	ATP7A	NM_000052.7(ATP7A):c.1707+1G>A	coding	Pathogenic
X	78009131	A	G	A78009131G	ATP7A	NM_000052.7(ATP7A):c.1737A>G:p.Val579=	coding	Benign/Likely_benign
X	78009162	A	G	A78009162G	ATP7A	NM_000052.7(ATP7A):c.1768A>G:p.Arg590Gly	coding	Benign
X	78009176	C	G	C78009176G	ATP7A	NM_000052.7(ATP7A):c.1782C>G:p.Tyr594Ter	coding	Pathogenic
X	78009217	A	G	A78009217G	ATP7A	NM_000052.7(ATP7A):c.1823A>G:p.Tyr608Cys	coding	Benign
X	78009225	G	T	G78009225T	ATP7A	NM_000052.7(ATP7A):c.1831G>T:p.Glu611Ter	coding	Pathogenic
X	78011175	G	C	G78011175C	ATP7A	NM_000052.7(ATP7A):c.1870-1G>C	noncoding	Pathogenic
X	78011180	T	G	T78011180G	ATP7A	NM_000052.7(ATP7A):c.1874T>G:p.Leu625Ter	coding	Pathogenic
X	78011216	C	T	C78011216T	ATP7A	NM_000052.7(ATP7A):c.1910C>T:p.Ser637Leu	coding	Pathogenic
X	78011237	A	G	A78011237G	ATP7A	NM_000052.7(ATP7A):c.1931A>G:p.Lys644Arg	coding	Benign
X	78011239	C	T	C78011239T	ATP7A	NM_000052.7(ATP7A):c.1933C>T:p.Arg645Ter	coding	Pathogenic
X	78011253	G	C	G78011253C	ATP7A	NM_000052.7(ATP7A):c.1946+1G>C	coding	Pathogenic
X	78011253	G	T	G78011253T	ATP7A	NM_000052.7(ATP7A):c.1946+1G>T	coding	Pathogenic
X	78011257	G	A	G78011257A	ATP7A	NM_000052.7(ATP7A):c.1946+5G>A	noncoding	Pathogenic
X	78011448	G	A	G78011448A	ATP7A	NM_000052.7(ATP7A):c.1947-1G>A	noncoding	Pathogenic
X	78011448	G	C	G78011448C	ATP7A	NM_000052.7(ATP7A):c.1947-1G>C	noncoding	Pathogenic
X	78011452	G	A	G78011452A	ATP7A	NM_000052.7(ATP7A):c.1950G>A:p.Trp650Ter	coding	Pathogenic
X	78011498	G	C	G78011498C	ATP7A	NM_000052.7(ATP7A):c.1996G>C:p.Gly666Arg	coding	Pathogenic
X	78011508	T	C	T78011508C	ATP7A	NM_000052.7(ATP7A):c.2006T>C:p.Ile669Thr	coding	Benign
X	78011565	G	A	G78011565A	ATP7A	NM_000052.7(ATP7A):c.2063G>A:p.Ser688Asn	coding	Benign
X	78011662	T	A	T78011662A	ATP7A	NM_000052.7(ATP7A):c.2160T>A:p.Cys720Ter	coding	Pathogenic
X	78011679	G	C	G78011679C	ATP7A	NM_000052.7(ATP7A):c.2172+5G>C	noncoding	Pathogenic/Likely_pathogenic
X	78012877	A	G	A78012877G	ATP7A	NM_000052.7(ATP7A):c.2173-2A>G	noncoding	Pathogenic
X	78012885	G	A	G78012885A	ATP7A	NM_000052.7(ATP7A):c.2179G>A:p.Gly727Arg	coding	Pathogenic
X	78012885	G	T	G78012885T	ATP7A	NM_000052.7(ATP7A):c.2179G>T:p.Gly727Ter	coding	Pathogenic
X	78012893	G	A	G78012893A	ATP7A	NM_000052.7(ATP7A):c.2187G>A:p.Trp729Ter	coding	Pathogenic
X	78012947	C	T	C78012947T	ATP7A	NM_000052.7(ATP7A):c.2241C>T:p.Asp747=	coding	Benign/Likely_benign
X	78013005	G	C	G78013005C	ATP7A	NM_000052.7(ATP7A):c.2299G>C:p.Val767Leu	coding	Benign
X	78013063	T	G	T78013063G	ATP7A	NM_000052.7(ATP7A):c.2357T>G:p.Met786Arg	coding	Pathogenic
X	78013089	C	T	C78013089T	ATP7A	NM_000052.7(ATP7A):c.2383C>T:p.Arg795Ter	coding	Pathogenic
X	78014707	A	G	A78014707G	ATP7A	NM_000052.7(ATP7A):c.2452A>G:p.Thr818Ala	coding	Benign/Likely_benign
X	78014720	T	C	T78014720C	ATP7A	NM_000052.7(ATP7A):c.2465T>C:p.Ile822Thr	coding	Benign
X	78014755	T	A	T78014755A	ATP7A	NM_000052.7(ATP7A):c.2498+2T>A	noncoding	Pathogenic
X	78015753	G	A	G78015753A	ATP7A	NM_000052.7(ATP7A):c.2499-1G>A	noncoding	Pathogenic
X	78015774	A	T	A78015774T	ATP7A	NM_000052.7(ATP7A):c.2519A>T:p.Glu840Val	coding	Benign/Likely_benign
X	78015785	C	T	C78015785T	ATP7A	NM_000052.7(ATP7A):c.2530C>T:p.Arg844Cys	coding	Benign/Likely_benign
X	78015810	C	T	C78015810T	ATP7A	NM_000052.7(ATP7A):c.2555C>T:p.Pro852Leu	coding	Pathogenic
X	78015831	A	G	A78015831G	ATP7A	NM_000052.7(ATP7A):c.2576A>G:p.Asp859Gly	coding	Pathogenic
X	78015862	A	G	A78015862G	ATP7A	NM_000052.7(ATP7A):c.2607A>G:p.Val869=	coding	Benign
X	78020326	C	T	C78020326T	ATP7A	NM_000052.7(ATP7A):c.2709C>T:p.Cys903=	coding	Benign/Likely_benign
X	78020916	C	A	C78020916A	ATP7A	NM_000052.7(ATP7A):c.2782-29C>A	noncoding	Benign
X	78021030	G	A	G78021030A	ATP7A	NM_000052.7(ATP7A):c.2867G>A:p.Trp956Ter	coding	Pathogenic
X	78029271	C	T	C78029271T	ATP7A	NM_000052.7(ATP7A):c.2938C>T:p.Arg980Ter	coding	Pathogenic
X	78029289	C	T	C78029289T	ATP7A	NM_000052.7(ATP7A):c.2956C>T:p.Arg986Ter	coding	Pathogenic
X	78029389	G	A	G78029389A	ATP7A	NM_000052.7(ATP7A):c.3056G>A:p.Gly1019Asp	coding	Pathogenic
X	78029427	T	C	T78029427C	ATP7A	NM_000052.7(ATP7A):c.3094T>C:p.Leu1032=	coding	Benign
X	78031399	G	A	G78031399A	ATP7A	NM_000052.7(ATP7A):c.3112-1G>A	noncoding	Pathogenic
X	78031420	T	G	T78031420G	ATP7A	NM_000052.7(ATP7A):c.3132T>G:p.Asp1044Glu	coding	Pathogenic
X	78031441	C	T	C78031441T	ATP7A	NM_000052.7(ATP7A):c.3153C>T:p.His1051=	coding	Benign/Likely_benign
X	78031498	C	T	C78031498T	ATP7A	NM_000052.7(ATP7A):c.3210C>T:p.His1070=	coding	Benign
X	78031573	T	G	T78031573G	ATP7A	NM_000052.7(ATP7A):c.3285T>G:p.Tyr1095Ter	coding	Pathogenic
X	78031576	C	A	C78031576A	ATP7A	NM_000052.7(ATP7A):c.3288C>A:p.Cys1096Ter	coding	Pathogenic
X	78031583	G	A	G78031583A	ATP7A	NM_000052.7(ATP7A):c.3294+1G>A	coding	Pathogenic
X	78033689	G	T	G78033689T	ATP7A	NM_000052.7(ATP7A):c.3379G>T:p.Glu1127Ter	coding	Pathogenic
X	78033726	A	G	A78033726G	ATP7A	NM_000052.7(ATP7A):c.3416A>G:p.Asp1139Gly	coding	Benign
X	78033759	T	C	T78033759C	ATP7A	NM_000052.7(ATP7A):c.3449T>C:p.Ile1150Thr	coding	Benign/Likely_benign
X	78033776	C	T	C78033776T	ATP7A	NM_000052.7(ATP7A):c.3466C>T:p.Gln1156Ter	coding	Pathogenic
X	78033783	C	A	C78033783A	ATP7A	NM_000052.7(ATP7A):c.3473C>A:p.Ser1158Ter	coding	Pathogenic
X	78033790	G	A	G78033790A	ATP7A	NM_000052.7(ATP7A):c.3480G>A:p.Ser1160=	coding	Benign
X	78033812	C	T	C78033812T	ATP7A	NM_000052.7(ATP7A):c.3502C>T:p.Gln1168Ter	coding	Pathogenic
X	78038850	C	T	C78038850T	ATP7A	NM_000052.7(ATP7A):c.3526C>T:p.Gln1176Ter	coding	Pathogenic
X	78038853	C	T	C78038853T	ATP7A	NM_000052.7(ATP7A):c.3529C>T:p.Gln1177Ter	coding	Pathogenic
X	78038856	T	C	T78038856C	ATP7A	NM_000052.7(ATP7A):c.3532T>C:p.Tyr1178His	coding	Benign
X	78038911	A	G	A78038911G	ATP7A	NM_000052.7(ATP7A):c.3587A>G:p.Asn1196Ser	coding	Benign
X	78038913	A	G	A78038913G	ATP7A	NM_000052.7(ATP7A):c.3589A>G:p.Asn1197Asp	coding	Benign/Likely_benign
X	78038937	G	C	G78038937C	ATP7A	NM_000052.7(ATP7A):c.3613G>C:p.Glu1205Gln	coding	Benign/Likely_benign
X	78038945	G	A	G78038945A	ATP7A	NM_000052.7(ATP7A):c.3621G>A:p.Glu1207=	coding	Benign
X	78040696	G	A	G78040696A	ATP7A	NM_000052.7(ATP7A):c.3764G>A:p.Gly1255Glu	coding	Pathogenic
X	78040734	G	T	G78040734T	ATP7A	NM_000052.7(ATP7A):c.3801+1G>T	coding	Pathogenic
X	78040739	T	C	T78040739C	ATP7A	NM_000052.7(ATP7A):c.3801+6T>C	noncoding	Benign/Likely_benign
X	78042584	G	T	G78042584T	ATP7A	NM_000052.7(ATP7A):c.3802-1G>T	noncoding	Pathogenic
X	78042651	C	T	C78042651T	ATP7A	NM_000052.7(ATP7A):c.3868C>T:p.Gln1290Ter	coding	Pathogenic
X	78042694	A	G	A78042694G	ATP7A	NM_000052.7(ATP7A):c.3911A>G:p.Asn1304Ser	coding	Pathogenic
X	78042703	C	G	C78042703G	ATP7A	NM_000052.7(ATP7A):c.3920C>G:p.Pro1307Arg	coding	Pathogenic
X	78042726	G	A	G78042726A	ATP7A	NM_000052.7(ATP7A):c.3943G>A:p.Gly1315Arg	coding	Pathogenic
X	78042789	G	T	G78042789T	ATP7A	NM_000052.7(ATP7A):c.4005+1G>T	coding	Pathogenic
X	78043378	G	A	G78043378A	ATP7A	NM_000052.7(ATP7A):c.4067G>A:p.Arg1356Gln	coding	Benign
X	78043435	G	A	G78043435A	ATP7A	NM_000052.7(ATP7A):c.4123+1G>A	coding	Pathogenic
X	78045502	C	T	C78045502T	ATP7A	NM_000052.7(ATP7A):c.4156C>T:p.Pro1386Ser	coding	Pathogenic
X	78045547	G	C	G78045547C	ATP7A	NM_000052.7(ATP7A):c.4201G>C:p.Val1401Leu	coding	Benign
X	78045577	G	A	G78045577A	ATP7A	NM_000052.7(ATP7A):c.4226+5G>A	noncoding	Pathogenic
X	78045583	T	C	T78045583C	ATP7A	NM_000052.7(ATP7A):c.4226+11T>C	noncoding	Benign/Likely_benign
X	78046334	C	A	C78046334A	ATP7A	NM_000052.7(ATP7A):c.4267C>A:p.Arg1423=	coding	Benign/Likely_benign
X	78046456	T	C	T78046456C	ATP7A	NM_000052.7(ATP7A):c.4389T>C:p.Ser1463=	coding	Benign/Likely_benign
X	78046457	A	G	A78046457G	ATP7A	NM_000052.7(ATP7A):c.4390A>G:p.Ile1464Val	coding	Benign
X	78103825	G	A	G78103825A	PGK1	NC_000023.11:g.78103825G>A	noncoding	Benign
X	78113767	T	A	T78113767A	PGK1	NM_000291.4(PGK1):c.140T>A:p.Ile47Asn	coding	Pathogenic
X	78113798	G	A	G78113798A	PGK1	NM_000291.4(PGK1):c.171G>A:p.Ser57=	coding	Benign
X	78113890	T	C	T78113890C	PGK1	NM_000291.4(PGK1):c.263T>C:p.Leu88Pro	coding	Pathogenic
X	78114133	G	A	G78114133A	PGK1	NM_000291.4(PGK1):c.390G>A:p.Gly130=	coding	Benign
X	78117367	G	T	G78117367T	PGK1	NM_000291.4(PGK1):c.473G>T:p.Gly158Val	coding	Pathogenic
X	78117385	A	T	A78117385T	PGK1	NM_000291.4(PGK1):c.491A>T:p.Asp164Val	coding	Pathogenic
X	78117733	A	G	A78117733G	PGK1	NM_000291.4(PGK1):c.521+318A>G	noncoding	Benign
X	78118027	C	T	C78118027T	PGK1	NM_000291.4(PGK1):c.522-24C>T	noncoding	Benign
X	78118068	A	G	A78118068G	PGK1	NM_000291.4(PGK1):c.539A>G:p.Asn180Ser	coding	Benign
X	78118146	G	C	G78118146C	PGK1	NM_000291.4(PGK1):c.617G>C:p.Arg206Pro	coding	Pathogenic
X	78122769	T	G	T78122769G	PGK1	NM_000291.4(PGK1):c.642-66T>G	noncoding	Benign
X	78122954	G	A	G78122954A	PGK1	NM_000291.4(PGK1):c.756+5G>A	noncoding	Pathogenic
X	78123196	T	C	T78123196C	PGK1	NM_000291.4(PGK1):c.758T>C:p.Ile253Thr	coding	Pathogenic/Likely_pathogenic
X	78123240	G	A	G78123240A	PGK1	NM_000291.4(PGK1):c.802G>A:p.Asp268Asn	coding	Pathogenic
X	78123284	G	C	G78123284C	PGK1	NM_000291.4(PGK1):c.846G>C:p.Leu282Phe	coding	Benign
X	78123292	A	T	A78123292T	PGK1	NM_000291.4(PGK1):c.854A>T:p.Asp285Val	coding	Pathogenic
X	78123347	G	C	G78123347C	PGK1	NM_000291.4(PGK1):c.909G>C:p.Val303=	coding	Benign
X	78124580	A	G	A78124580G	PGK1	NM_000291.4(PGK1):c.937-294A>G	noncoding	Benign
X	78124883	T	C	T78124883C	PGK1	NM_000291.4(PGK1):c.946T>C:p.Cys316Arg	coding	Pathogenic
X	78124896	G	A	G78124896A	PGK1	NM_000291.4(PGK1):c.959G>A:p.Ser320Asn	coding	Pathogenic
X	78124985	C	T	C78124985T	PGK1	NM_000291.4(PGK1):c.1048C>T:p.Arg350Trp	coding	Benign/Likely_benign
X	78125344	A	C	A78125344C	PGK1	NM_000291.4(PGK1):c.1132A>C:p.Thr378Pro	coding	Pathogenic
X	78125505	A	G	A78125505G	PGK1	NM_000291.4(PGK1):c.1213+80A>G	noncoding	Benign
X	78125517	G	A	G78125517A	PGK1	NM_000291.4(PGK1):c.1213+92G>A	noncoding	Benign
X	78755029	C	A	C78755029A	LPAR4	NM_005296.3(LPAR4):c.160C>A:p.Leu54Met	coding	Benign
X	78960916	C	T	C78960916T	P2RY10	NM_014499.4(P2RY10):c.396C>T:p.Cys132=	coding	Benign
X	79171490	C	T	C79171490T	GPR174	NM_032553.2(GPR174):c.483C>T:p.Thr161=	coding	Benign
X	79361426	C	T	C79361426T	ITM2A	NM_004867.5(ITM2A):c.606G>A:p.Val202=	coding	Benign
X	79362701	A	G	A79362701G	ITM2A	NM_004867.5(ITM2A):c.442-10T>C	noncoding	Benign
X	80014787	G	A	G80014787A	TBX22	NM_001109878.2(TBX22):c.-103G>A	noncoding	Benign
X	80022261	C	G	C80022261G	TBX22	NM_001109878.2(TBX22):c.-2-7C>G	noncoding	Benign
X	80022341	C	T	C80022341T	TBX22	NM_001109878.2(TBX22):c.72C>T:p.Leu24=	coding	Benign
X	80022435	G	T	G80022435T	TBX22	NM_001109878.2(TBX22):c.166G>T:p.Glu56Ter	coding	Pathogenic
X	80023047	C	A	C80023047A	TBX22	NM_001109878.2(TBX22):c.176-13C>A	noncoding	Benign/Likely_benign
X	80023236	G	T	G80023236T	TBX22	NM_001109878.2(TBX22):c.352G>T:p.Gly118Cys	coding	Pathogenic
X	80025703	G	A	G80025703A	TBX22	NM_001109878.2(TBX22):c.559G>A:p.Glu187Lys	coding	Benign
X	80025778	G	A	G80025778A	TBX22	NM_001109878.2(TBX22):c.633+1G>A	coding	Pathogenic
X	80026711	T	C	T80026711C	TBX22	NM_001109878.2(TBX22):c.641T>C:p.Leu214Pro	coding	Pathogenic
X	80026849	C	T	C80026849T	TBX22	NM_001109878.2(TBX22):c.779C>T:p.Thr260Met	coding	Pathogenic
X	80026850	G	A	G80026850A	TBX22	NM_001109878.2(TBX22):c.780G>A:p.Thr260=	coding	Benign
X	80026860	A	T	A80026860T	TBX22	NM_001109878.2(TBX22):c.790A>T:p.Asn264Tyr	coding	Pathogenic
X	80027261	G	A	G80027261A	TBX22	NM_001109878.2(TBX22):c.804G>A:p.Thr268=	coding	Benign
X	80027321	G	C	G80027321C	TBX22	NM_001109878.2(TBX22):c.863+1G>C	coding	Pathogenic
X	80028010	T	C	T80028010C	TBX22	NM_001109878.2(TBX22):c.883T>C:p.Leu295=	coding	Benign
X	80028057	C	A	C80028057A	TBX22	NM_001109878.2(TBX22):c.930C>A:p.Thr310=	coding	Benign
X	80028088	T	G	T80028088G	TBX22	NM_001109878.2(TBX22):c.949+12T>G	noncoding	Benign
X	80030760	C	T	C80030760T	TBX22	NM_001109878.2(TBX22):c.1212C>T:p.Ala404=	coding	Benign
X	80030972	A	T	A80030972T	TBX22	NM_001109878.2(TBX22):c.1424A>T:p.Tyr475Phe	coding	Benign
X	80031117	C	A	C80031117A	TBX22	NM_001109878.2(TBX22):c.*6C>A	noncoding	Benign
X	80031458	T	C	T80031458C	TBX22	NM_001109878.2(TBX22):c.*347T>C	noncoding	Benign
X	80669707	C	T	C80669707T	BRWD3	NM_153252.5(BRWD3):c.*6902G>A	noncoding	Benign
X	80669747	A	G	A80669747G	BRWD3	NM_153252.5(BRWD3):c.*6862T>C	noncoding	Benign
X	80669969	A	T	A80669969T	BRWD3	NM_153252.5(BRWD3):c.*6640T>A	noncoding	Benign
X	80670278	G	C	G80670278C	BRWD3	NM_153252.5(BRWD3):c.*6331C>G	noncoding	Benign
X	80670452	G	A	G80670452A	BRWD3	NM_153252.5(BRWD3):c.*6157C>T	noncoding	Benign
X	80670616	C	G	C80670616G	BRWD3	NM_153252.5(BRWD3):c.*5993G>C	noncoding	Benign
X	80670868	C	A	C80670868A	BRWD3	NM_153252.5(BRWD3):c.*5741G>T	noncoding	Benign
X	80671128	T	G	T80671128G	BRWD3	NM_153252.5(BRWD3):c.*5481A>C	noncoding	Benign
X	80671148	A	C	A80671148C	BRWD3	NM_153252.5(BRWD3):c.*5461T>G	noncoding	Benign
X	80671276	C	A	C80671276A	BRWD3	NM_153252.5(BRWD3):c.*5333G>T	noncoding	Benign
X	80671345	C	A	C80671345A	BRWD3	NM_153252.5(BRWD3):c.*5264G>T	noncoding	Benign
X	80671476	C	A	C80671476A	BRWD3	NM_153252.5(BRWD3):c.*5133G>T	noncoding	Benign
X	80671800	A	C	A80671800C	BRWD3	NM_153252.5(BRWD3):c.*4809T>G	noncoding	Benign
X	80672337	G	A	G80672337A	BRWD3	NM_153252.5(BRWD3):c.*4272C>T	noncoding	Benign
X	80672386	G	A	G80672386A	BRWD3	NM_153252.5(BRWD3):c.*4223C>T	noncoding	Benign
X	80672759	C	G	C80672759G	BRWD3	NM_153252.5(BRWD3):c.*3850G>C	noncoding	Benign
X	80672822	A	G	A80672822G	BRWD3	NM_153252.5(BRWD3):c.*3787T>C	noncoding	Benign
X	80673126	C	T	C80673126T	BRWD3	NM_153252.5(BRWD3):c.*3483G>A	noncoding	Benign
X	80673162	C	T	C80673162T	BRWD3	NM_153252.5(BRWD3):c.*3447G>A	noncoding	Benign
X	80673778	G	A	G80673778A	BRWD3	NM_153252.5(BRWD3):c.*2831C>T	noncoding	Benign
X	80673886	T	C	T80673886C	BRWD3	NM_153252.5(BRWD3):c.*2723A>G	noncoding	Benign
X	80674286	C	T	C80674286T	BRWD3	NM_153252.5(BRWD3):c.*2323G>A	noncoding	Benign
X	80674617	C	T	C80674617T	BRWD3	NM_153252.5(BRWD3):c.*1992G>A	noncoding	Benign
X	80675017	C	G	C80675017G	BRWD3	NM_153252.5(BRWD3):c.*1592G>C	noncoding	Benign
X	80675237	A	T	A80675237T	BRWD3	NM_153252.5(BRWD3):c.*1372T>A	noncoding	Benign
X	80675573	T	G	T80675573G	BRWD3	NM_153252.5(BRWD3):c.*1036A>C	noncoding	Benign
X	80676034	C	A	C80676034A	BRWD3	NM_153252.5(BRWD3):c.*575G>T	noncoding	Benign
X	80676888	C	A	C80676888A	BRWD3	NM_153252.5(BRWD3):c.5130G>T:p.Gly1710=	coding	Benign
X	80676918	A	G	A80676918G	BRWD3	NM_153252.5(BRWD3):c.5100T>C:p.Gly1700=	coding	Benign
X	80677232	T	C	T80677232C	BRWD3	NM_153252.5(BRWD3):c.4786A>G:p.Lys1596Glu	coding	Pathogenic
X	80681423	G	A	G80681423A	BRWD3	NM_153252.5(BRWD3):c.4572C>T:p.Phe1524=	coding	Benign
X	80684155	T	C	T80684155C	BRWD3	NM_153252.5(BRWD3):c.4088A>G:p.Gln1363Arg	coding	Benign
X	80685488	T	A	T80685488A	BRWD3	NM_153252.5(BRWD3):c.4054A>T:p.Arg1352Ter	coding	Pathogenic
X	80685527	C	A	C80685527A	BRWD3	NM_153252.5(BRWD3):c.4015G>T:p.Glu1339Ter	coding	Pathogenic
X	80686929	C	T	C80686929T	BRWD3	NM_153252.5(BRWD3):c.3939G>A:p.Leu1313=	coding	Benign
X	80686982	G	A	G80686982A	BRWD3	NM_153252.5(BRWD3):c.3886C>T:p.Gln1296Ter	coding	Pathogenic
X	80688070	T	C	T80688070C	BRWD3	NM_153252.5(BRWD3):c.3863A>G:p.Lys1288Arg	coding	Benign
X	80691038	T	G	T80691038G	BRWD3	NM_153252.5(BRWD3):c.3602+15A>C	noncoding	Benign
X	80691039	A	T	A80691039T	BRWD3	NM_153252.5(BRWD3):c.3602+14T>A	noncoding	Benign
X	80692088	C	A	C80692088A	BRWD3	NM_153252.5(BRWD3):c.3325+1G>T	noncoding	Pathogenic
X	80692096	T	C	T80692096C	BRWD3	NM_153252.5(BRWD3):c.3318A>G:p.Pro1106=	coding	Benign
X	80692995	G	A	G80692995A	BRWD3	NM_153252.5(BRWD3):c.3208C>T:p.Gln1070Ter	coding	Pathogenic
X	80703586	C	G	C80703586G	BRWD3	NM_153252.5(BRWD3):c.2729G>C:p.Gly910Ala	coding	Benign
X	80716152	C	T	C80716152T	BRWD3	NM_153252.5(BRWD3):c.2325+5G>A	noncoding	Benign/Likely_benign
X	80717620	C	T	C80717620T	BRWD3	NM_153252.5(BRWD3):c.2184G>A:p.Ala728=	coding	Benign/Likely_benign
X	80719476	T	C	T80719476C	BRWD3	NM_153252.5(BRWD3):c.2044+13A>G	noncoding	Benign
X	80735155	G	T	G80735155T	BRWD3	NM_153252.5(BRWD3):c.957C>A:p.Val319=	coding	Benign
X	80744022	C	G	C80744022G	BRWD3	NM_153252.5(BRWD3):c.813+10G>C	noncoding	Benign
X	80744076	C	T	C80744076T	BRWD3	NM_153252.5(BRWD3):c.769G>A:p.Val257Ile	coding	Benign/Likely_benign
X	80744248	T	G	T80744248G	BRWD3	NM_153252.5(BRWD3):c.597A>C:p.Ser199=	coding	Benign
X	80745592	G	A	G80745592A	BRWD3	NM_153252.5(BRWD3):c.568C>T:p.Arg190Ter	coding	Pathogenic
X	80745668	T	C	T80745668C	BRWD3	NM_153252.5(BRWD3):c.492A>G:p.Ser164=	coding	Benign
X	80809303	C	T	C80809303T	BRWD3	NM_153252.5(BRWD3):c.33G>A:p.Glu11=	coding	Benign/Likely_benign
X	80809700	G	A	G80809700A	BRWD3	NM_153252.5(BRWD3):c.-229C>T	noncoding	Benign
X	81115003	C	G	C81115003G	HMGN5	NM_030763.3(HMGN5):c.495G>C:p.Glu165Asp	coding	Benign
X	81118462	C	T	C81118462T	HMGN5	NM_030763.3(HMGN5):c.99G>A:p.Glu33=	coding	Benign
X	81118482	G	A	G81118482A	HMGN5	NM_030763.3(HMGN5):c.79C>T:p.Leu27Phe	coding	Benign
X	83508463	C	T	C83508463T	POU3F4	NM_000307.5(POU3F4):c.139C>T:p.Pro47Ser	coding	Benign/Likely_benign
X	83508494	G	A	G83508494A	POU3F4	NM_000307.5(POU3F4):c.170G>A:p.Trp57Ter	coding	Pathogenic
X	83508556	C	T	C83508556T	POU3F4	NM_000307.5(POU3F4):c.232C>T:p.Gln78Ter	coding	Pathogenic
X	83508559	C	T	C83508559T	POU3F4	NM_000307.5(POU3F4):c.235C>T:p.Gln79Ter	coding	Pathogenic
X	83508802	C	T	C83508802T	POU3F4	NM_000307.5(POU3F4):c.478C>T:p.Gln160Ter	coding	Pathogenic
X	83508823	C	T	C83508823T	POU3F4	NM_000307.5(POU3F4):c.499C>T:p.Arg167Ter	coding	Pathogenic
X	83508928	A	T	A83508928T	POU3F4	NM_000307.5(POU3F4):c.604A>T:p.Lys202Ter	coding	Pathogenic
X	83508979	C	T	C83508979T	POU3F4	NM_000307.5(POU3F4):c.655C>T:p.Leu219=	coding	Benign
X	83509077	G	A	G83509077A	POU3F4	NM_000307.5(POU3F4):c.753G>A:p.Leu251=	coding	Benign/Likely_benign
X	83509201	C	G	C83509201G	POU3F4	NM_000307.5(POU3F4):c.877C>G:p.Leu293Val	coding	Pathogenic
X	83509259	C	T	C83509259T	POU3F4	NM_000307.5(POU3F4):c.935C>T:p.Ala312Val	coding	Pathogenic
X	83509274	T	G	T83509274G	POU3F4	NM_000307.5(POU3F4):c.950T>G:p.Leu317Trp	coding	Pathogenic
X	83509291	C	G	C83509291G	POU3F4	NM_000307.5(POU3F4):c.967C>G:p.Arg323Gly	coding	Pathogenic
X	83509299	G	A	G83509299A	POU3F4	NM_000307.5(POU3F4):c.975G>A:p.Trp325Ter	coding	Pathogenic
X	83509314	A	T	A83509314T	POU3F4	NM_000307.5(POU3F4):c.990A>T:p.Arg330Ser	coding	Pathogenic
X	83509324	A	G	A83509324G	POU3F4	NM_000307.5(POU3F4):c.1000A>G:p.Lys334Glu	coding	Pathogenic
X	83509432	C	G	C83509432G	POU3F4	NM_000307.5(POU3F4):c.*22C>G	noncoding	Benign
X	84135175	G	A	G84135175A	RPS6KA6	NM_014496.5(RPS6KA6):c.537C>T:p.Leu179=	coding	Benign
X	84326256	C	T	C84326256T	HDX	NM_001177479.2(HDX):c.1869G>A:p.Lys623=	coding	Benign
X	84361532	G	A	G84361532A	HDX	NM_001177479.2(HDX):c.1386C>T:p.Gly462=	coding	Benign
X	84468904	G	A	G84468904A	HDX	NM_001177479.2(HDX):c.819C>T:p.Tyr273=	coding	Benign
X	84469012	G	A	G84469012A	HDX	NM_001177479.2(HDX):c.711C>T:p.Gly237=	coding	Benign
X	84469146	C	T	C84469146T	HDX	NM_001177479.2(HDX):c.577G>A:p.Ala193Thr	coding	Benign
X	84469369	A	G	A84469369G	HDX	NM_001177479.2(HDX):c.354T>C:p.Ser118=	coding	Benign
X	85244148	A	G	A85244148G	ZNF711	NM_001330574.2(ZNF711):c.-449A>G	noncoding	Benign
X	85246011	A	T	A85246011T	ZNF711	NM_001330574.2(ZNF711):c.-297A>T	noncoding	Benign
X	85246027	C	T	C85246027T	ZNF711	NM_001330574.2(ZNF711):c.-286+5C>T	noncoding	Benign
X	85255632	A	C	A85255632C	ZNF711	NM_001330574.2(ZNF711):c.453A>C:p.Gly151=	coding	Benign/Likely_benign
X	85265137	A	G	A85265137G	ZNF711	NM_001330574.2(ZNF711):c.798A>G:p.Thr266=	coding	Benign
X	85265168	G	A	G85265168A	ZNF711	NM_001330574.2(ZNF711):c.829G>A:p.Ala277Thr	coding	Benign/Likely_benign
X	85270772	G	A	G85270772A	ZNF711	NM_001330574.2(ZNF711):c.1368G>A:p.Met456Ile	coding	Benign
X	85271115	A	T	A85271115T	ZNF711	NM_021998.5(ZNF711):c.1573A>T:p.Arg525Ter	coding	Pathogenic
X	85271510	A	G	A85271510G	ZNF711	NM_001330574.2(ZNF711):c.2106A>G:p.Thr702=	coding	Benign/Likely_benign
X	85271513	C	T	C85271513T	ZNF711	NM_001330574.2(ZNF711):c.2109C>T:p.Ser703=	coding	Benign
X	85271875	A	G	A85271875G	ZNF711	NM_001330574.2(ZNF711):c.*47A>G	noncoding	Benign
X	85271950	G	T	G85271950T	ZNF711	NM_001330574.2(ZNF711):c.*122G>T	noncoding	Benign
X	85271981	A	G	A85271981G	ZNF711	NM_001330574.2(ZNF711):c.*153A>G	noncoding	Benign
X	85272100	G	A	G85272100A	ZNF711	NM_001330574.2(ZNF711):c.*272G>A	noncoding	Benign
X	85272460	A	G	A85272460G	ZNF711;POF1B	NM_001330574.2(ZNF711):c.*632A>G	noncoding	Benign
X	85273088	G	A	G85273088A	ZNF711;POF1B	NM_001330574.2(ZNF711):c.*1260G>A	noncoding	Benign/Likely_benign
X	85273239	G	A	G85273239A	POF1B;ZNF711	NM_001330574.2(ZNF711):c.*1411G>A	noncoding	Benign/Likely_benign
X	85277795	C	T	C85277795T	ZNF711;POF1B	NM_024921.4(POF1B):c.*1626G>A	noncoding	Benign
X	85277990	T	G	T85277990G	ZNF711;POF1B	NM_024921.4(POF1B):c.*1431A>C	noncoding	Benign
X	85278041	A	C	A85278041C	POF1B	NM_024921.4(POF1B):c.*1380T>G	noncoding	Benign
X	85278402	G	T	G85278402T	POF1B	NM_024921.4(POF1B):c.*1019C>A	noncoding	Benign
X	85278646	C	A	C85278646A	POF1B	NM_024921.4(POF1B):c.*775G>T	noncoding	Benign
X	85278666	C	T	C85278666T	POF1B	NM_024921.4(POF1B):c.*755G>A	noncoding	Benign
X	85278752	A	G	A85278752G	POF1B	NM_024921.4(POF1B):c.*669T>C	noncoding	Benign
X	85279053	C	A	C85279053A	POF1B	NM_024921.4(POF1B):c.*368G>T	noncoding	Benign
X	85279069	T	C	T85279069C	POF1B	NM_024921.4(POF1B):c.*352A>G	noncoding	Benign
X	85279108	G	A	G85279108A	POF1B	NM_024921.4(POF1B):c.*313C>T	noncoding	Benign
X	85279109	T	G	T85279109G	POF1B	NM_024921.4(POF1B):c.*312A>C	noncoding	Benign
X	85279153	A	C	A85279153C	POF1B	NM_024921.4(POF1B):c.*268T>G	noncoding	Benign
X	85279377	A	C	A85279377C	POF1B	NM_024921.4(POF1B):c.*44T>G	noncoding	Benign
X	85282200	T	C	T85282200C	POF1B	NM_024921.4(POF1B):c.1764+3A>G	coding	Benign
X	85303483	G	C	G85303483C	POF1B	NM_024921.4(POF1B):c.1572C>G:p.Leu524=	coding	Benign
X	85304333	C	T	C85304333T	POF1B	NM_024921.4(POF1B):c.1566+10G>A	noncoding	Benign
X	85304382	C	T	C85304382T	POF1B	NM_024921.4(POF1B):c.1527G>A:p.Leu509=	coding	Benign
X	85305845	C	T	C85305845T	POF1B	NM_024921.4(POF1B):c.1383G>A:p.Thr461=	coding	Benign/Likely_benign
X	85305854	G	A	G85305854A	POF1B	NM_024921.4(POF1B):c.1374C>T:p.Asn458=	coding	Benign
X	85305857	G	C	G85305857C	POF1B	NM_024921.4(POF1B):c.1371C>G:p.Gly457=	coding	Benign
X	85308129	T	A	T85308129A	POF1B	NM_024921.4(POF1B):c.1045A>T:p.Met349Leu	coding	Benign
X	85314446	G	A	G85314446A	POF1B	NM_024921.4(POF1B):c.943C>T:p.Arg315Cys	coding	Benign
X	85345867	C	G	C85345867G	POF1B	NM_024921.4(POF1B):c.716G>C:p.Cys239Ser	coding	Benign
X	85345942	T	C	T85345942C	POF1B	NM_024921.4(POF1B):c.641A>G:p.Gln214Arg	coding	Benign
X	85345964	G	A	G85345964A	POF1B	NM_024921.4(POF1B):c.619C>T:p.Pro207Ser	coding	Benign
X	85379342	T	G	T85379342G	POF1B	NM_024921.4(POF1B):c.113A>C:p.Gln38Pro	coding	Benign
X	85379658	G	A	G85379658A	POF1B	NM_024921.4(POF1B):c.-61C>T	noncoding	Benign
X	85864790	T	C	T85864790C	CHM	NM_000390.4(CHM):c.1802A>G:p.Asn601Ser	coding	Benign
X	85864822	C	T	C85864822T	CHM	NM_000390.4(CHM):c.1771-1G>A	coding	Pathogenic
X	85873109	G	A	G85873109A	CHM	NM_000390.4(CHM):c.1713C>T:p.Asn571=	coding	Benign
X	85873178	C	T	C85873178T	CHM	NM_000390.4(CHM):c.1644G>A:p.Trp548Ter	coding	Pathogenic
X	85873181	C	A	C85873181A	CHM	NM_000390.4(CHM):c.1641G>T:p.Leu547=	coding	Benign
X	85878963	A	T	A85878963T	CHM	NM_000390.4(CHM):c.1609+2T>A	noncoding	Pathogenic
X	85879001	G	A	G85879001A	CHM	NM_000390.4(CHM):c.1573C>T:p.Gln525Ter	coding	Pathogenic
X	85879054	T	C	T85879054C	CHM	NM_000390.4(CHM):c.1520A>G:p.His507Arg	coding	Pathogenic
X	85879065	T	C	T85879065C	CHM	NM_000390.4(CHM):c.1511-2A>G	noncoding	Pathogenic
X	85894201	G	T	G85894201T	CHM	NM_000390.4(CHM):c.1497C>A:p.Cys499Ter	coding	Pathogenic
X	85894210	C	T	C85894210T	CHM	NM_000390.4(CHM):c.1488G>A:p.Thr496=	coding	Benign
X	85894214	G	T	G85894214T	CHM	NM_000390.4(CHM):c.1484C>A:p.Ser495Ter	coding	Pathogenic
X	85894227	C	A	C85894227A	CHM	NM_000390.4(CHM):c.1471G>T:p.Glu491Ter	coding	Pathogenic
X	85900645	C	A	C85900645A	CHM	NM_000390.4(CHM):c.1413+1G>T	noncoding	Pathogenic
X	85900679	A	G	A85900679G	CHM	NM_000390.4(CHM):c.1380T>C:p.Asp460=	coding	Benign
X	85900708	G	A	G85900708A	CHM	NM_000390.4(CHM):c.1351C>T:p.Gln451Ter	coding	Pathogenic
X	85901074	G	A	G85901074A	CHM	NM_000390.4(CHM):c.1349+10C>T	noncoding	Benign
X	85901091	G	A	G85901091A	CHM	NM_000390.4(CHM):c.1342C>T:p.Gln448Ter	coding	Pathogenic
X	85901099	G	C	G85901099C	CHM	NM_000390.4(CHM):c.1334C>G:p.Ser445Ter	coding	Pathogenic
X	85901119	G	C	G85901119C	CHM	NM_000390.4(CHM):c.1314C>G:p.Tyr438Ter	coding	Pathogenic
X	85901134	G	A	G85901134A	CHM	NM_000390.4(CHM):c.1299C>T:p.Leu433=	coding	Benign
X	85901160	G	A	G85901160A	CHM	NM_000390.4(CHM):c.1273C>T:p.Gln425Ter	coding	Pathogenic
X	85901178	T	C	T85901178C	CHM	NM_000390.4(CHM):c.1255A>G:p.Ile419Val	coding	Benign
X	85911287	G	T	G85911287T	CHM	NM_000390.4(CHM):c.1218C>A:p.Cys406Ter	coding	Pathogenic
X	85911292	G	A	G85911292A	CHM	NM_000390.4(CHM):c.1213C>T:p.Gln405Ter	coding	Pathogenic
X	85956175	C	A	C85956175A	CHM	NM_000390.4(CHM):c.1144G>T:p.Glu382Ter	coding	Pathogenic
X	85956181	G	A	G85956181A	CHM	NM_000390.4(CHM):c.1138C>T:p.Gln380Ter	coding	Pathogenic
X	85956219	C	A	C85956219A	CHM	NM_000390.4(CHM):c.1100G>T:p.Arg367Leu	coding	Benign
X	85956219	C	T	C85956219T	CHM	NM_000390.4(CHM):c.1100G>A:p.Arg367Gln	coding	Benign/Likely_benign
X	85956300	G	T	G85956300T	CHM	NM_000390.4(CHM):c.1019C>A:p.Ser340Ter	coding	Pathogenic
X	85956311	A	G	A85956311G	CHM	NM_000390.4(CHM):c.1008T>C:p.Ile336=	coding	Benign
X	85956348	A	C	A85956348C	CHM	NM_000390.4(CHM):c.971T>G:p.Leu324Ter	coding	Pathogenic
X	85956350	A	T	A85956350T	CHM	NM_000390.4(CHM):c.969T>A:p.Tyr323Ter	coding	Pathogenic
X	85957854	C	A	C85957854A	CHM	NM_000390.4(CHM):c.940+1G>T	noncoding	Pathogenic
X	85957871	A	C	A85957871C	CHM	NM_000390.4(CHM):c.924T>G:p.Tyr308Ter	coding	Pathogenic
X	85957918	G	A	G85957918A	CHM	NM_000390.4(CHM):c.877C>T:p.Arg293Ter	coding	Pathogenic
X	85957970	C	T	C85957970T	CHM	NM_000390.4(CHM):c.825G>A:p.Pro275=	coding	Benign
X	85957977	T	C	T85957977C	CHM	NM_000390.4(CHM):c.820-2A>G	noncoding	Pathogenic
X	85958859	A	C	A85958859C	CHM	NM_000390.4(CHM):c.819+2T>G	noncoding	Pathogenic
X	85958860	C	G	C85958860G	CHM	NM_000390.4(CHM):c.819+1G>C	noncoding	Pathogenic
X	85958860	C	T	C85958860T	CHM	NM_000390.4(CHM):c.819+1G>A	noncoding	Pathogenic
X	85958872	G	A	G85958872A	CHM	NM_000390.4(CHM):c.808C>T:p.Arg270Ter	coding	Pathogenic
X	85958881	G	A	G85958881A	CHM	NM_000390.4(CHM):c.799C>T:p.Arg267Ter	coding	Pathogenic
X	85958923	G	A	G85958923A	CHM	NM_000390.4(CHM):c.757C>T:p.Arg253Ter	coding	Pathogenic
X	85958965	G	A	G85958965A	CHM	NM_000390.4(CHM):c.715C>T:p.Arg239Ter	coding	Pathogenic
X	85963748	T	C	T85963748C	CHM	NM_000390.4(CHM):c.619A>G:p.Thr207Ala	coding	Benign
X	85963785	T	C	T85963785C	CHM	NM_000390.4(CHM):c.582A>G:p.Glu194=	coding	Benign
X	85963884	G	A	G85963884A	CHM	NM_000390.4(CHM):c.483C>T:p.Ser161=	coding	Benign
X	85963898	G	A	G85963898A	CHM	NM_000390.4(CHM):c.469C>T:p.Gln157Ter	coding	Pathogenic
X	85964016	T	C	T85964016C	CHM	NM_000390.4(CHM):c.351A>G:p.Ala117=	coding	Benign
X	85968639	A	T	A85968639T	CHM	NM_000390.4(CHM):c.315-4587T>A	noncoding	Pathogenic
X	85978770	G	C	G85978770C	CHM	NM_000390.4(CHM):c.311C>G:p.Ala104Gly	coding	Benign
X	85978795	G	A	G85978795A	CHM	NM_000390.4(CHM):c.286C>T:p.Gln96Ter	coding	Pathogenic
X	85978816	T	A	T85978816A	CHM	NM_000390.4(CHM):c.265A>T:p.Ser89Cys	coding	Benign
X	85978843	G	A	G85978843A	CHM	NM_000390.4(CHM):c.238C>T:p.Leu80Phe	coding	Benign
X	85978855	G	A	G85978855A	CHM	NM_000390.4(CHM):c.226C>T:p.Gln76Ter	coding	Pathogenic
X	85978893	T	C	T85978893C	CHM	NM_000390.4(CHM):c.190-2A>G	noncoding	Pathogenic
X	85978896	A	G	A85978896G	CHM	NM_000390.4(CHM):c.190-5T>C	noncoding	Benign
X	85981764	T	C	T85981764C	CHM	NM_000390.4(CHM):c.162A>G:p.Gly54=	coding	Benign
X	85981785	C	T	C85981785T	CHM	NM_000390.4(CHM):c.141G>A:p.Trp47Ter	coding	Pathogenic
X	85981793	C	A	C85981793A	CHM	NM_000390.4(CHM):c.133G>T:p.Gly45Ter	coding	Pathogenic
X	85981796	C	A	C85981796A	CHM	NM_000390.4(CHM):c.130G>T:p.Gly44Ter	coding	Pathogenic
X	85981800	G	C	G85981800C	CHM	NM_000390.4(CHM):c.126C>G:p.Tyr42Ter	coding	Pathogenic
X	86027490	C	A	C86027490A	CHM	NM_000390.4(CHM):c.116+1G>T	noncoding	Pathogenic/Likely_pathogenic
X	86027490	C	T	C86027490T	CHM	NM_000390.4(CHM):c.116+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	86027558	C	G	C86027558G	CHM	NM_000390.4(CHM):c.50-1G>C	coding	Pathogenic
X	86047479	C	T	C86047479T	CHM	NM_000390.4(CHM):c.49+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	86047483	C	A	C86047483A	CHM	NM_000390.4(CHM):c.49+1G>T	noncoding	Pathogenic
X	86047511	C	A	C86047511A	CHM	NM_000390.4(CHM):c.22G>T:p.Glu8Ter	coding	Pathogenic
X	86047525	T	C	T86047525C	CHM	NM_000390.4(CHM):c.8A>G:p.Asp3Gly	coding	Benign
X	86812876	C	T	C86812876T	DACH2	NM_053281.3(DACH2):c.1261C>T:p.Pro421Ser	coding	Benign
X	88753719	C	A	C88753719A	CPXCR1	NM_033048.6(CPXCR1):c.305C>A:p.Ser102Tyr	coding	Benign
X	88754169	G	C	G88754169C	CPXCR1	NM_033048.6(CPXCR1):c.755G>C:p.Gly252Ala	coding	Benign
X	89922127	G	A	G89922127A	TGIF2LX	NM_138960.4(TGIF2LX):c.42G>A:p.Pro14=	coding	Benign
X	91835514	T	C	T91835514C	PCDH11X	NM_032968.4(PCDH11X):c.10T>C:p.Leu4=	coding	Benign
X	91877524	C	T	C91877524T	PCDH11X	NM_032968.4(PCDH11X):c.1284C>T:p.Ser428=	coding	Benign
X	91878301	G	A	G91878301A	PCDH11X	NM_032968.4(PCDH11X):c.2061G>A:p.Pro687=	coding	Benign
X	91879114	G	A	G91879114A	PCDH11X	NM_032968.4(PCDH11X):c.2874G>A:p.Ser958=	coding	Benign
X	92201394	G	A	G92201394A	PCDH11X	NM_032968.4(PCDH11X):c.3053G>A:p.Arg1018Gln	coding	Benign
X	92618534	C	T	C92618534T	PCDH11X	NM_032968.4(PCDH11X):c.3638C>T:p.Pro1213Leu	coding	Benign
X	92618779	G	C	G92618779C	PCDH11X	NM_032968.4(PCDH11X):c.3883G>C:p.Gly1295Arg	coding	Benign
X	92618898	G	A	G92618898A	PCDH11X	NM_032968.4(PCDH11X):c.4002G>A:p.Pro1334=	coding	Benign
X	93671995	G	C	G93671995C	NAP1L3	NM_004538.6(NAP1L3):c.1310C>G:p.Ala437Gly	coding	Benign
X	96738667	G	A	G96738667A	DIAPH2	NM_006729.5(DIAPH2):c.247G>A:p.Ala83Thr	coding	Benign/Likely_benign
X	96948937	C	T	C96948937T	DIAPH2	NM_006729.5(DIAPH2):c.1512C>T:p.Phe504=	coding	Benign
X	96958121	G	C	G96958121C	DIAPH2	NM_006729.5(DIAPH2):c.1908G>C:p.Val636=	coding	Benign
X	97099708	T	C	T97099708C	DIAPH2	NM_006729.5(DIAPH2):c.2262T>C:p.His754=	coding	Benign
X	100296269	A	G	A100296269G	PCDH19	NM_001184880.2(PCDH19):c.*8T>C	noncoding	Benign
X	100296324	T	G	T100296324G	PCDH19	NM_001184880.2(PCDH19):c.3400A>C:p.Asn1134His	coding	Benign
X	100296373	A	G	A100296373G	PCDH19	NM_001184880.2(PCDH19):c.3351T>C:p.Asp1117=	coding	Benign
X	100296444	G	C	G100296444C	PCDH19	NM_001184880.2(PCDH19):c.3280C>G:p.Leu1094Val	coding	Benign/Likely_benign
X	100296607	G	A	G100296607A	PCDH19	NM_001184880.2(PCDH19):c.3117C>T:p.Val1039=	coding	Benign/Likely_benign
X	100296706	G	A	G100296706A	PCDH19	NM_001184880.2(PCDH19):c.3018C>T:p.Asp1006=	coding	Benign
X	100296786	G	A	G100296786A	PCDH19	NM_001184880.2(PCDH19):c.2938C>T:p.Arg980Cys	coding	Benign/Likely_benign
X	100296851	C	T	C100296851T	PCDH19	NM_001184880.2(PCDH19):c.2873G>A:p.Arg958Gln	coding	Benign/Likely_benign
X	100296877	T	C	T100296877C	PCDH19	NM_001184880.2(PCDH19):c.2849-2A>G	noncoding	Pathogenic
X	100342011	G	A	G100342011A	PCDH19	NM_001184880.2(PCDH19):c.2740C>T:p.Gln914Ter	coding	Pathogenic
X	100342081	T	C	T100342081C	PCDH19	NM_001184880.2(PCDH19):c.2676-6A>G	noncoding	Pathogenic
X	100350665	G	A	G100350665A	PCDH19	NM_001184880.2(PCDH19):c.2656C>T:p.Arg886Ter	coding	Pathogenic
X	100350705	C	T	C100350705T	PCDH19	NM_001184880.2(PCDH19):c.2617-1G>A	coding	Pathogenic
X	100402333	C	A	C100402333A	PCDH19	NM_001184880.2(PCDH19):c.2616+191G>T	noncoding	Benign
X	100402671	C	T	C100402671T	PCDH19	NM_001184880.2(PCDH19):c.2469G>A:p.Leu823=	coding	Benign
X	100402826	G	A	G100402826A	PCDH19	NM_001184880.2(PCDH19):c.2314C>T:p.Gln772Ter	coding	Pathogenic
X	100406449	A	G	A100406449G	PCDH19	NM_001184880.2(PCDH19):c.2147+2T>C	noncoding	Pathogenic
X	100406450	C	T	C100406450T	PCDH19	NM_001184880.2(PCDH19):c.2147+1G>A	noncoding	Pathogenic
X	100406459	G	T	G100406459T	PCDH19	NM_001184880.2(PCDH19):c.2139C>A:p.Tyr713Ter	coding	Pathogenic
X	100406476	T	A	T100406476A	PCDH19	NM_001184880.2(PCDH19):c.2122A>T:p.Lys708Ter	coding	Pathogenic
X	100406485	G	A	G100406485A	PCDH19	NM_001184880.2(PCDH19):c.2113C>T:p.Arg705Ter	coding	Pathogenic
X	100406586	G	C	G100406586C	PCDH19	NM_001184880.2(PCDH19):c.2012C>G:p.Ser671Ter	coding	Pathogenic
X	100406630	A	T	A100406630T	PCDH19	NM_001184880.2(PCDH19):c.1968T>A:p.Ala656=	coding	Benign/Likely_benign
X	100406708	G	A	G100406708A	PCDH19	NM_001184880.2(PCDH19):c.1890C>T:p.Phe630=	coding	Benign
X	100406743	G	A	G100406743A	PCDH19	NM_001184880.2(PCDH19):c.1855C>T:p.Gln619Ter	coding	Pathogenic
X	100406783	G	C	G100406783C	PCDH19	NM_001184880.2(PCDH19):c.1815C>G:p.Tyr605Ter	coding	Pathogenic/Likely_pathogenic
X	100406794	G	A	G100406794A	PCDH19	NM_001184880.2(PCDH19):c.1804C>T:p.Arg602Ter	coding	Pathogenic
X	100406843	G	C	G100406843C	PCDH19	NM_001184880.2(PCDH19):c.1755C>G:p.Tyr585Ter	coding	Pathogenic
X	100406873	G	A	G100406873A	PCDH19	NM_001184880.2(PCDH19):c.1725C>T:p.Val575=	coding	Benign/Likely_benign
X	100406898	G	A	G100406898A	PCDH19	NM_001184880.2(PCDH19):c.1700C>T:p.Pro567Leu	coding	Pathogenic/Likely_pathogenic
X	100406927	G	C	G100406927C	PCDH19	NM_001184880.2(PCDH19):c.1671C>G:p.Asn557Lys	coding	Pathogenic
X	100406954	C	T	C100406954T	PCDH19	NM_001184880.2(PCDH19):c.1644G>A:p.Thr548=	coding	Benign
X	100406971	G	A	G100406971A	PCDH19	NM_001184880.2(PCDH19):c.1627C>T:p.Leu543=	coding	Benign
X	100406973	G	C	G100406973C	PCDH19	NM_001184880.2(PCDH19):c.1625C>G:p.Ser542Ter	coding	Pathogenic
X	100406980	G	A	G100406980A	PCDH19	NM_001184880.2(PCDH19):c.1618C>T:p.Leu540Phe	coding	Benign/Likely_benign
X	100407043	G	A	G100407043A	PCDH19	NM_001184880.2(PCDH19):c.1555C>T:p.Arg519Ter	coding	Pathogenic
X	100407050	G	T	G100407050T	PCDH19	NM_001184880.2(PCDH19):c.1548C>A:p.Tyr516Ter	coding	Pathogenic
X	100407245	C	T	C100407245T	PCDH19	NM_001184880.2(PCDH19):c.1353G>A:p.Pro451=	coding	Benign/Likely_benign
X	100407276	A	T	A100407276T	PCDH19	NM_001184880.2(PCDH19):c.1322T>A:p.Val441Glu	coding	Pathogenic
X	100407298	G	A	G100407298A	PCDH19	NM_001184880.2(PCDH19):c.1300C>T:p.Gln434Ter	coding	Pathogenic
X	100407304	T	C	T100407304C	PCDH19	NM_001184880.2(PCDH19):c.1294A>G:p.Met432Val	coding	Benign/Likely_benign
X	100407358	C	A	C100407358A	PCDH19	NM_001184880.2(PCDH19):c.1240G>T:p.Glu414Ter	coding	Pathogenic
X	100407415	G	A	G100407415A	PCDH19	NM_001184880.2(PCDH19):c.1183C>T:p.Arg395Ter	coding	Pathogenic
X	100407445	G	C	G100407445C	PCDH19	NM_001184880.2(PCDH19):c.1153C>G:p.Gln385Glu	coding	Pathogenic
X	100407461	G	A	G100407461A	PCDH19	NM_001184880.2(PCDH19):c.1137C>T:p.Gly379=	coding	Benign
X	100407465	G	C	G100407465C	PCDH19	NM_001184880.2(PCDH19):c.1133C>G:p.Ser378Ter	coding	Pathogenic
X	100407469	C	G	C100407469G	PCDH19	NM_001184880.2(PCDH19):c.1129G>C:p.Asp377His	coding	Pathogenic
X	100407484	G	A	G100407484A	PCDH19	NM_001184880.2(PCDH19):c.1114C>T:p.Arg372Trp	coding	Pathogenic/Likely_pathogenic
X	100407500	G	C	G100407500C	PCDH19	NM_001184880.2(PCDH19):c.1098C>G:p.Tyr366Ter	coding	Pathogenic
X	100407567	G	A	G100407567A	PCDH19	NM_001184880.2(PCDH19):c.1031C>T:p.Pro344Leu	coding	Pathogenic
X	100407579	T	C	T100407579C	PCDH19	NM_001184880.2(PCDH19):c.1019A>G:p.Asn340Ser	coding	Pathogenic
X	100407580	T	A	T100407580A	PCDH19	NM_001184880.2(PCDH19):c.1018A>T:p.Asn340Tyr	coding	Pathogenic
X	100407643	T	A	T100407643A	PCDH19	NM_001184880.2(PCDH19):c.955A>T:p.Lys319Ter	coding	Pathogenic
X	100407661	C	A	C100407661A	PCDH19	NM_001184880.2(PCDH19):c.937G>T:p.Glu313Ter	coding	Pathogenic
X	100407680	G	C	G100407680C	PCDH19	NM_001184880.2(PCDH19):c.918C>G:p.Tyr306Ter	coding	Pathogenic
X	100407710	G	A	G100407710A	PCDH19	NM_001184880.2(PCDH19):c.888C>T:p.Gly296=	coding	Benign/Likely_benign
X	100407739	C	A	C100407739A	PCDH19	NM_001184880.2(PCDH19):c.859G>T:p.Glu287Ter	coding	Pathogenic
X	100407773	G	T	G100407773T	PCDH19	NM_001184880.2(PCDH19):c.825C>A:p.Tyr275Ter	coding	Pathogenic
X	100407784	G	A	G100407784A	PCDH19	NM_001184880.2(PCDH19):c.814C>T:p.Gln272Ter	coding	Pathogenic
X	100407799	C	A	C100407799A	PCDH19	NM_001184880.2(PCDH19):c.799G>T:p.Glu267Ter	coding	Pathogenic
X	100407881	G	A	G100407881A	PCDH19	NM_001184880.2(PCDH19):c.717C>T:p.Ser239=	coding	Benign
X	100407892	G	A	G100407892A	PCDH19	NM_001184880.2(PCDH19):c.706C>T:p.Pro236Ser	coding	Pathogenic
X	100407902	A	T	A100407902T	PCDH19	NM_001184880.2(PCDH19):c.696T>A:p.Asn232Lys	coding	Pathogenic
X	100407903	T	C	T100407903C	PCDH19	NM_001184880.2(PCDH19):c.695A>G:p.Asn232Ser	coding	Pathogenic
X	100407919	T	A	T100407919A	PCDH19	NM_001184880.2(PCDH19):c.679A>T:p.Lys227Ter	coding	Pathogenic
X	100407943	G	A	G100407943A	PCDH19	NM_001184880.2(PCDH19):c.655C>T:p.Leu219=	coding	Benign/Likely_benign
X	100407979	G	A	G100407979A	PCDH19	NM_001184880.2(PCDH19):c.619C>T:p.Arg207Ter	coding	Pathogenic
X	100408003	C	A	C100408003A	PCDH19	NM_001184880.2(PCDH19):c.595G>T:p.Glu199Ter	coding	Pathogenic
X	100408033	C	A	C100408033A	PCDH19	NM_001184880.2(PCDH19):c.565G>T:p.Glu189Ter	coding	Pathogenic/Likely_pathogenic
X	100408063	T	A	T100408063A	PCDH19	NM_001184880.2(PCDH19):c.535A>T:p.Lys179Ter	coding	Pathogenic
X	100408067	C	T	C100408067T	PCDH19	NM_001184880.2(PCDH19):c.531G>A:p.Glu177=	coding	Benign/Likely_benign
X	100408084	C	A	C100408084A	PCDH19	NM_001184880.2(PCDH19):c.514G>T:p.Glu172Ter	coding	Pathogenic
X	100408085	G	A	G100408085A	PCDH19	NM_001184880.2(PCDH19):c.513C>T:p.Asn171=	coding	Benign/Likely_benign
X	100408099	C	A	C100408099A	PCDH19	NM_001184880.2(PCDH19):c.499G>T:p.Glu167Ter	coding	Pathogenic
X	100408100	G	C	G100408100C	PCDH19	NM_001184880.2(PCDH19):c.498C>G:p.Tyr166Ter	coding	Pathogenic
X	100408100	G	T	G100408100T	PCDH19	NM_001184880.2(PCDH19):c.498C>A:p.Tyr166Ter	coding	Pathogenic
X	100408108	G	A	G100408108A	PCDH19	NM_001184880.2(PCDH19):c.490C>T:p.Gln164Ter	coding	Pathogenic
X	100408125	G	C	G100408125C	PCDH19	NM_001184880.2(PCDH19):c.473C>G:p.Ser158Ter	coding	Pathogenic
X	100408136	G	C	G100408136C	PCDH19	NM_001184880.2(PCDH19):c.462C>G:p.Tyr154Ter	coding	Pathogenic/Likely_pathogenic
X	100408195	C	A	C100408195A	PCDH19	NM_001184880.2(PCDH19):c.403G>T:p.Glu135Ter	coding	Pathogenic
X	100408196	G	T	G100408196T	PCDH19	NM_001184880.2(PCDH19):c.402C>A:p.Ile134=	coding	Benign
X	100408345	G	A	G100408345A	PCDH19	NM_001184880.2(PCDH19):c.253C>T:p.Gln85Ter	coding	Pathogenic
X	100408398	G	T	G100408398T	PCDH19	NM_001184880.2(PCDH19):c.200C>A:p.Ser67Ter	coding	Pathogenic
X	100408429	G	A	G100408429A	PCDH19	NM_001184880.2(PCDH19):c.169C>T:p.Gln57Ter	coding	Pathogenic
X	100408456	C	A	C100408456A	PCDH19	NM_001184880.2(PCDH19):c.142G>T:p.Glu48Ter	coding	Pathogenic
X	100408507	C	A	C100408507A	PCDH19	NM_001184880.2(PCDH19):c.91G>T:p.Glu31Ter	coding	Pathogenic
X	100408517	G	A	G100408517A	PCDH19	NM_001184880.2(PCDH19):c.81C>T:p.Tyr27=	coding	Benign/Likely_benign
X	100408517	G	C	G100408517C	PCDH19	NM_001184880.2(PCDH19):c.81C>G:p.Tyr27Ter	coding	Pathogenic
X	100408592	C	T	C100408592T	PCDH19	NM_001184880.2(PCDH19):c.6G>A:p.Glu2=	coding	Benign/Likely_benign
X	100410287	G	A	G100410287A	PCDH19	NC_000023.11:g.100410287G>A	noncoding	Benign
X	100410335	C	G	C100410335G	PCDH19	NC_000023.11:g.100410335C>G	noncoding	Benign
X	100585042	T	C	T100585042C	TNMD	NM_022144.3(TNMD):c.24T>C:p.Asn8=	coding	Benign
X	100599152	A	C	A100599152C	TNMD	NM_022144.3(TNMD):c.714A>C:p.Ala238=	coding	Benign
X	100633985	C	T	C100633985T	TSPAN6	NM_003270.4(TSPAN6):c.396G>A:p.Gln132=	coding	Benign
X	100650877	T	C	T100650877C	SRPX2	NM_014467.3(SRPX2):c.163+12T>C	noncoding	Benign
X	100662227	A	C	A100662227C	SRPX2	NM_014467.3(SRPX2):c.215A>C:p.Tyr72Ser	coding	Pathogenic
X	100662335	G	A	G100662335A	SRPX2	NM_014467.3(SRPX2):c.323G>A:p.Ser108Asn	coding	Benign/Likely_benign
X	100664736	G	A	G100664736A	SRPX2	NM_014467.3(SRPX2):c.356-38G>A	noncoding	Benign
X	100664899	C	A	C100664899A	SRPX2	NM_014467.3(SRPX2):c.481C>A:p.Arg161=	coding	Benign/Likely_benign
X	100665334	G	A	G100665334A	SRPX2	NM_014467.3(SRPX2):c.624G>A:p.Pro208=	coding	Benign/Likely_benign
X	100665978	G	A	G100665978A	SRPX2	NM_014467.3(SRPX2):c.781+321G>A	noncoding	Benign
X	100666890	T	C	T100666890C	SRPX2	NM_014467.3(SRPX2):c.918T>C:p.Cys306=	coding	Benign
X	100666945	C	T	C100666945T	SRPX2	NM_014467.3(SRPX2):c.961+12C>T	noncoding	Benign
X	100669335	C	T	C100669335T	SRPX2	NM_014467.3(SRPX2):c.1183C>T:p.Gln395Ter	coding	Pathogenic
X	100670801	C	T	C100670801T	SRPX2	NM_014467.3(SRPX2):c.1218-6C>T	noncoding	Benign
X	100670882	C	T	C100670882T	SRPX2	NM_014467.3(SRPX2):c.1293C>T:p.Tyr431=	coding	Benign/Likely_benign
X	100670962	G	A	G100670962A	SRPX2	NM_014467.3(SRPX2):c.1373G>A:p.Arg458Gln	coding	Benign/Likely_benign
X	100823876	A	G	A100823876G	CSTF2	NM_001306206.1(CSTF2):c.445-10A>G	noncoding	Benign
X	100832842	C	T	C100832842T	CSTF2	NM_001306206.1(CSTF2):c.1200C>T:p.Pro400=	coding	Benign
X	100850151	C	T	C100850151T	NOX1	NM_007052.5(NOX1):c.1133G>A:p.Arg378Lys	coding	Benign
X	100862210	G	A	G100862210A	NOX1	NM_007052.5(NOX1):c.765C>T:p.Ser255=	coding	Benign
X	101101098	G	A	G101101098A	CENPI	NM_006733.3(CENPI):c.28G>A:p.Val10Ile	coding	Benign
X	101127186	G	A	G101127186A	CENPI	NM_006733.3(CENPI):c.826G>A:p.Val276Met	coding	Benign
X	101235913	C	G	C101235913G	DRP2	NM_001939.2(DRP2):c.171C>G:p.Pro57=	coding	Benign
X	101237772	T	C	T101237772C	DRP2	NM_001939.2(DRP2):c.435T>C:p.His145=	coding	Benign
X	101239007	G	T	G101239007T	DRP2	NM_001939.2(DRP2):c.465G>T:p.Arg155=	coding	Benign
X	101239088	T	C	T101239088C	DRP2	NM_001939.2(DRP2):c.546T>C:p.His182=	coding	Benign
X	101242900	A	G	A101242900G	DRP2	NM_001939.2(DRP2):c.976-4A>G	noncoding	Benign
X	101248237	C	T	C101248237T	DRP2	NM_001939.2(DRP2):c.1401C>T:p.Asn467=	coding	Benign
X	101250973	G	A	G101250973A	DRP2	NM_001939.2(DRP2):c.1755G>A:p.Glu585=	coding	Benign
X	101252598	C	T	C101252598T	DRP2	NM_001939.2(DRP2):c.1866-7C>T	noncoding	Benign
X	101252686	G	T	G101252686T	DRP2	NM_001939.2(DRP2):c.1947G>T:p.Leu649=	coding	Benign
X	101254422	C	T	C101254422T	DRP2	NM_001939.2(DRP2):c.1978-3C>T	noncoding	Benign
X	101256247	G	A	G101256247A	DRP2	NM_001939.2(DRP2):c.2376G>A:p.Leu792=	coding	Benign
X	101258517	C	T	C101258517T	DRP2	NM_001939.2(DRP2):c.2599C>T:p.Leu867=	coding	Benign
X	101282358	C	T	C101282358T	TAF7L	NM_001168474.2(TAF7L):c.375G>A:p.Gly125=	coding	Benign
X	101292836	G	A	G101292836A	TAF7L	NM_024885.4(TAF7L):c.210C>T:p.Ser70=	coding	Benign
X	101292865	C	T	C101292865T	TAF7L	NM_024885.4(TAF7L):c.181G>A:p.Glu61Lys	coding	Benign
X	101346555	G	A	G101346555A	TIMM8A	NM_004085.4(TIMM8A):c.238C>T:p.Arg80Ter	coding	Pathogenic
X	101346595	G	C	G101346595C	TIMM8A	NM_004085.4(TIMM8A):c.198C>G:p.Cys66Trp	coding	Pathogenic
X	101346661	C	A	C101346661A	TIMM8A	NM_004085.4(TIMM8A):c.133-1G>T	coding	Pathogenic
X	101346683	T	G	T101346683G	TIMM8A	NM_004085.4(TIMM8A):c.133-23A>C	noncoding	Pathogenic
X	101348375	T	C	T101348375C	TIMM8A	NM_004085.4(TIMM8A):c.132+158A>G	coding	Benign
X	101348553	G	A	G101348553A	TIMM8A	NM_004085.4(TIMM8A):c.112C>T:p.Gln38Ter	coding	Pathogenic
X	101348575	C	T	C101348575T	TIMM8A	NM_004085.4(TIMM8A):c.90G>A:p.Gln30=	coding	Benign
X	101348595	C	A	C101348595A	TIMM8A	NM_004085.4(TIMM8A):c.70G>T:p.Glu24Ter	coding	Pathogenic
X	101348650	G	A	G101348650A	TIMM8A	NM_004085.4(TIMM8A):c.15C>T:p.Ser5=	coding	Benign/Likely_benign
X	101348670	G	A	G101348670A	TIMM8A	NM_004085.4(TIMM8A):c.-6C>T	noncoding	Benign
X	101349551	A	C	A101349551C	BTK	NM_000061.2(BTK):c.*334T>G	noncoding	Benign
X	101349664	C	A	C101349664A	BTK	NM_000061.3(BTK):c.*221G>T	noncoding	Benign
X	101349693	C	T	C101349693T	BTK	NM_000061.2(BTK):c.*192G>A	noncoding	Benign
X	101349769	T	G	T101349769G	BTK	NM_000061.2(BTK):c.*116A>C	noncoding	Benign
X	101349910	A	G	A101349910G	BTK	NM_000061.2(BTK):c.1955T>C:p.Leu652Pro	coding	Pathogenic
X	101353196	C	A	C101353196A	BTK	NM_000061.2(BTK):c.1906G>T:p.Glu636Ter	coding	Pathogenic
X	101353203	G	A	G101353203A	BTK	NM_000061.3(BTK):c.1899C>T:p.Cys633=	coding	Benign
X	101353213	A	T	A101353213T	BTK	NM_000061.2(BTK):c.1889T>A:p.Met630Lys	coding	Pathogenic
X	101353264	C	T	C101353264T	BTK	NM_000061.2(BTK):c.1838G>A:p.Gly613Asp	coding	Pathogenic
X	101353282	G	T	G101353282T	BTK	NM_000061.2(BTK):c.1820C>A:p.Ala607Asp	coding	Pathogenic
X	101353322	C	T	C101353322T	BTK	NM_000061.2(BTK):c.1780G>A:p.Gly594Arg	coding	Pathogenic
X	101353336	T	C	T101353336C	BTK	NM_000061.2(BTK):c.1766A>G:p.Glu589Gly	coding	Pathogenic
X	101353337	C	A	C101353337A	BTK	NM_000061.3(BTK):c.1765G>T:p.Glu589Ter	coding	Pathogenic
X	101353339	C	T	C101353339T	BTK	NM_000061.2(BTK):c.1763G>A:p.Trp588Ter	coding	Pathogenic
X	101353352	C	G	C101353352G	BTK	NM_000061.2(BTK):c.1751-1G>C	coding	Pathogenic
X	101353865	C	T	C101353865T	BTK	NM_000061.2(BTK):c.1750+5G>A	noncoding	Pathogenic
X	101353879	A	G	A101353879G	BTK	NM_000061.2(BTK):c.1741T>C:p.Trp581Arg	coding	Pathogenic
X	101353914	A	G	A101353914G	BTK	NM_000061.2(BTK):c.1706T>C:p.Leu569Pro	coding	Pathogenic
X	101353919	T	C	T101353919C	BTK	NM_000061.3(BTK):c.1701A>G:p.Glu567=	coding	Benign
X	101353923	G	C	G101353923C	BTK	NM_000061.2(BTK):c.1697C>G:p.Pro566Arg	coding	Pathogenic
X	101353932	C	T	C101353932T	BTK	NM_000061.2(BTK):c.1688G>A:p.Trp563Ter	coding	Pathogenic
X	101353935	C	G	C101353935G	BTK	NM_000061.2(BTK):c.1685G>C:p.Arg562Pro	coding	Pathogenic
X	101353936	G	A	G101353936A	BTK	NM_000061.2(BTK):c.1684C>T:p.Arg562Trp	coding	Pathogenic
X	101353990	T	C	T101353990C	BTK	NM_000061.2(BTK):c.1632-2A>G	noncoding	Pathogenic
X	101354628	A	G	A101354628G	BTK	NM_000061.3(BTK):c.1631+2T>C	noncoding	Pathogenic
X	101354629	C	A	C101354629A	BTK	NM_000061.2(BTK):c.1631+1G>T	noncoding	Pathogenic
X	101354681	C	G	C101354681G	BTK	NM_000061.2(BTK):c.1580G>C:p.Cys527Ser	coding	Pathogenic
X	101354687	C	T	C101354687T	BTK	NM_000061.2(BTK):c.1574G>A:p.Arg525Gln	coding	Pathogenic/Likely_pathogenic
X	101354688	G	A	G101354688A	BTK	NM_000061.2(BTK):c.1573C>T:p.Arg525Ter	coding	Pathogenic
X	101354696	T	A	T101354696A	BTK	NM_000061.2(BTK):c.1567-2A>T	noncoding	Pathogenic
X	101354696	T	C	T101354696C	BTK	NM_000061.3(BTK):c.1567-2A>G	noncoding	Pathogenic
X	101356059	C	T	C101356059T	BTK	NM_000061.2(BTK):c.1559G>A:p.Arg520Gln	coding	Pathogenic
X	101356060	G	A	G101356060A	BTK	NM_000061.2(BTK):c.1558C>T:p.Arg520Ter	coding	Pathogenic
X	101356072	G	A	G101356072A	BTK	NM_000061.2(BTK):c.1546C>T:p.Gln516Ter	coding	Pathogenic
X	101356092	A	G	A101356092G	BTK	NM_000061.2(BTK):c.1526T>C:p.Met509Thr	coding	Pathogenic
X	101356112	G	T	G101356112T	BTK	NM_001287345.1(BTK):c.1039-1418C>A	coding	Pathogenic
X	101356129	G	A	G101356129A	BTK	NM_000061.2(BTK):c.1489C>T:p.Gln497Ter	coding	Pathogenic
X	101356163	G	T	G101356163T	BTK	NM_000061.2(BTK):c.1455C>A:p.Tyr485Ter	coding	Pathogenic
X	101356269	C	T	C101356269T	BTK	NM_000061.3(BTK):c.1350-1G>A	coding	Pathogenic
X	101356812	C	A	C101356812A	BTK	NM_000061.2(BTK):c.1321G>T:p.Glu441Ter	coding	Pathogenic
X	101356845	T	C	T101356845C	BTK	NM_001287345.1(BTK):c.1038+1529A>G	coding	Pathogenic
X	101356858	G	T	G101356858T	BTK	NM_001287345.1(BTK):c.1038+1516C>A	coding	Pathogenic
X	101356871	C	T	C101356871T	BTK	NM_000061.2(BTK):c.1262G>A:p.Trp421Ter	coding	Pathogenic
X	101356881	A	G	A101356881G	BTK	NM_000061.3(BTK):c.1252T>C:p.Tyr418His	coding	Benign/Likely_benign
X	101356884	T	A	T101356884A	BTK	NM_000061.3(BTK):c.1249A>T:p.Lys417Ter	coding	Pathogenic
X	101356910	A	G	A101356910G	BTK	NM_001287345.1(BTK):c.1038+1464T>C	coding	Pathogenic
X	101356948	C	T	C101356948T	BTK	NM_000061.2(BTK):c.1185G>A:p.Trp395Ter	coding	Pathogenic
X	101357548	G	A	G101357548A	BTK	NM_000061.2(BTK):c.1138C>T:p.Gln380Ter	coding	Pathogenic/Likely_pathogenic
X	101357561	A	C	A101357561C	BTK	NM_001287345.1(BTK):c.1038+813T>G	coding	Pathogenic
X	101357570	C	G	C101357570G	BTK	NM_000061.2(BTK):c.1116G>C:p.Arg372Ser	coding	Pathogenic
X	101357583	C	T	C101357583T	BTK	NM_000061.2(BTK):c.1103G>A:p.Gly368Glu	coding	Pathogenic
X	101358330	T	C	T101358330C	BTK	NM_001287345.1(BTK):c.1038+44A>G	coding	Pathogenic
X	101358348	A	T	A101358348T	BTK	NM_000061.2(BTK):c.1064T>A:p.Ile355Asn	coding	Pathogenic
X	101358408	A	T	A101358408T	BTK	NM_000061.2(BTK):c.1004T>A:p.Val335Asp	coding	Pathogenic
X	101358411	T	G	T101358411G	BTK	NM_000061.2(BTK):c.1001A>C:p.Tyr334Ser	coding	Pathogenic
X	101358637	A	G	A101358637G	BTK	NM_000061.2(BTK):c.954T>C:p.Ser318=	coding	Benign
X	101358638	G	A	G101358638A	BTK	NM_000061.2(BTK):c.953C>T:p.Ser318Phe	coding	Pathogenic
X	101358672	T	C	T101358672C	BTK	NM_000061.2(BTK):c.919A>G:p.Arg307Gly	coding	Pathogenic
X	101358697	C	A	C101358697A	BTK	NM_000061.3(BTK):c.895-1G>T	coding	Pathogenic
X	101359292	C	T	C101359292T	BTK	NM_000061.2(BTK):c.894+1G>A	noncoding	Pathogenic
X	101359324	C	T	C101359324T	BTK	NM_000061.2(BTK):c.863G>A:p.Arg288Gln	coding	Pathogenic
X	101360087	C	T	C101360087T	BTK	NM_000061.2(BTK):c.839+1G>A	noncoding	Pathogenic
X	101360090	A	T	A101360090T	BTK	NM_000061.3(BTK):c.837T>A:p.Tyr279Ter	coding	Pathogenic
X	101360151	C	T	C101360151T	BTK	NM_000061.2(BTK):c.777-1G>A	coding	Pathogenic
X	101360581	G	A	G101360581A	BTK	NM_000061.2(BTK):c.763C>T:p.Arg255Ter	coding	Pathogenic
X	101360588	C	T	C101360588T	BTK	NM_000061.2(BTK):c.756G>A:p.Trp252Ter	coding	Pathogenic
X	101360589	C	T	C101360589T	BTK	NM_000061.2(BTK):c.755G>A:p.Trp252Ter	coding	Pathogenic
X	101360626	C	A	C101360626A	BTK	NM_000061.2(BTK):c.718G>T:p.Glu240Ter	coding	Pathogenic
X	101360675	A	T	A101360675T	BTK	NM_000061.2(BTK):c.669T>A:p.Tyr223Ter	coding	Pathogenic
X	101360729	C	A	C101360729A	BTK	NM_000061.3(BTK):c.615G>T:p.Glu205Asp	coding	Benign/Likely_benign
X	101362172	C	A	C101362172A	BTK	NM_000061.2(BTK):c.588+1G>T	noncoding	Pathogenic/Likely_pathogenic
X	101362230	A	G	A101362230G	BTK	NM_000061.2(BTK):c.531T>C:p.Pro177=	coding	Benign
X	101362585	G	A	G101362585A	BTK	NM_000061.3(BTK):c.496C>T:p.Gln166Ter	coding	Pathogenic
X	101362612	G	A	G101362612A	BTK	NM_000061.2(BTK):c.469C>T:p.Gln157Ter	coding	Pathogenic
X	101362616	G	T	G101362616T	BTK	NM_000061.3(BTK):c.465C>A:p.Cys155Ter	coding	Pathogenic
X	101362646	G	T	G101362646T	BTK	NM_000061.2(BTK):c.435C>A:p.Cys145Ter	coding	Pathogenic
X	101370044	G	A	G101370044A	BTK	NM_000061.3(BTK):c.345C>T:p.Ser115=	coding	Benign
X	101370051	A	T	A101370051T	BTK	NM_000061.2(BTK):c.338T>A:p.Val113Asp	coding	Pathogenic
X	101370053	G	C	G101370053C	BTK	NM_000061.3(BTK):c.336C>G:p.Tyr112Ter	coding	Pathogenic
X	101370080	C	G	C101370080G	BTK	NM_000061.2(BTK):c.310-1G>C	coding	Pathogenic
X	101370081	T	C	T101370081C	BTK	NM_000061.2(BTK):c.310-2A>G	noncoding	Pathogenic
X	101371635	G	A	G101371635A	BTK	NM_000061.2(BTK):c.307C>T:p.Gln103Ter	coding	Pathogenic
X	101371642	A	T	A101371642T	BTK	NM_000061.3(BTK):c.300T>A:p.Tyr100Ter	coding	Pathogenic
X	101371664	G	T	G101371664T	BTK	NM_000061.2(BTK):c.278C>A:p.Ser93Ter	coding	Pathogenic
X	101374529	T	G	T101374529G	BTK	NM_000061.2(BTK):c.240+7A>C	noncoding	Benign
X	101374544	G	A	G101374544A	BTK	NM_000061.2(BTK):c.232C>T:p.Gln78Ter	coding	Pathogenic
X	101375166	T	C	T101375166C	BTK	NM_000061.2(BTK):c.119A>G:p.Tyr40Cys	coding	Pathogenic
X	101375188	T	G	T101375188G	BTK	NM_000061.2(BTK):c.97A>C:p.Thr33Pro	coding	Pathogenic
X	101375202	C	T	C101375202T	BTK	NM_000061.2(BTK):c.83G>A:p.Arg28His	coding	Pathogenic
X	101375203	G	A	G101375203A	BTK	NM_000061.3(BTK):c.82C>T:p.Arg28Cys	coding	Pathogenic
X	101375239	G	A	G101375239A	BTK	NM_000061.2(BTK):c.46C>T:p.Gln16Ter	coding	Pathogenic
X	101375244	G	T	G101375244T	BTK	NM_000061.2(BTK):c.41C>A:p.Ser14Tyr	coding	Pathogenic
X	101375248	G	A	G101375248A	BTK	NM_000061.2(BTK):c.37C>T:p.Arg13Ter	coding	Pathogenic
X	101375282	C	T	C101375282T	BTK	NM_000061.3(BTK):c.3G>A:p.Met1Ile	coding	Pathogenic
X	101375283	A	G	A101375283G	BTK	NM_000061.2(BTK):c.2T>C:p.Met1Thr	coding	Pathogenic
X	101386057	C	T	C101386057T	BTK	NM_000061.2(BTK):c.-31+5G>A	noncoding	Pathogenic
X	101390479	T	C	T101390479C	BTK	NM_000061.2(BTK):c.-4448A>G	coding	Benign
X	101390487	G	A	G101390487A	BTK	NM_001287344.1(BTK):c.63C>T:p.Ser21=	coding	Benign
X	101391786	C	T	C101391786T	RPL36A	NM_021029.6(RPL36A):c.141C>T:p.Gly47=	coding	Benign
X	101397853	G	A	G101397853A	GLA	NM_000169.2(GLA):c.1246C>T:p.Gln416Ter	coding	Pathogenic
X	101397855	A	G	A101397855G	GLA	NM_000169.2(GLA):c.1244T>C:p.Leu415Pro	coding	Pathogenic
X	101397871	T	C	T101397871C	GLA	NM_000169.2(GLA):c.1228A>G:p.Thr410Ala	coding	Pathogenic
X	101397874	G	C	G101397874C	GLA	NM_000169.2(GLA):c.1225C>G:p.Pro409Ala	coding	Pathogenic
X	101397907	C	A	C101397907A	GLA	NM_000169.2(GLA):c.1192G>T:p.Glu398Ter	coding	Pathogenic
X	101397942	T	G	T101397942G	GLA	NM_000169.2(GLA):c.1157A>C:p.Gln386Pro	coding	Pathogenic/Likely_pathogenic
X	101397946	T	C	T101397946C	GLA	NM_000169.3(GLA):c.1153A>G:p.Thr385Ala	coding	Benign/Likely_benign
X	101397981	C	T	C101397981T	GLA	NM_000169.2(GLA):c.1118G>A:p.Gly373Asp	coding	Pathogenic
X	101397982	C	T	C101397982T	GLA	NM_000169.3(GLA):c.1117G>A:p.Gly373Ser	coding	Pathogenic/Likely_pathogenic
X	101398004	A	T	A101398004T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2547A>T	coding	Pathogenic
X	101398011	C	T	C101398011T	GLA	NM_000169.2(GLA):c.1088G>A:p.Arg363His	coding	Pathogenic
X	101398012	G	A	G101398012A	GLA	NM_000169.2(GLA):c.1087C>T:p.Arg363Cys	coding	Pathogenic
X	101398018	C	G	C101398018G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2561C>G	coding	Pathogenic
X	101398018	C	T	C101398018T	GLA	NM_000169.2(GLA):c.1081G>A:p.Gly361Arg	coding	Pathogenic
X	101398027	C	T	C101398027T	GLA	NM_000169.2(GLA):c.1072G>A:p.Glu358Lys	coding	Pathogenic
X	101398030	G	A	G101398030A	GLA	NM_000169.2(GLA):c.1069C>T:p.Gln357Ter	coding	Pathogenic
X	101398033	G	A	G101398033A	GLA	NM_000169.3(GLA):c.1066C>T:p.Arg356Trp	coding	Pathogenic
X	101398074	C	T	C101398074T	GLA	NM_000169.2(GLA):c.1025G>A:p.Arg342Gln	coding	Pathogenic
X	101398075	G	A	G101398075A	GLA	NM_000169.2(GLA):c.1024C>T:p.Arg342Ter	coding	Pathogenic
X	101398076	T	G	T101398076G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G	coding	Pathogenic
X	101398078	C	A	C101398078A	GLA	NM_000169.2(GLA):c.1021G>T:p.Glu341Ter	coding	Pathogenic
X	101398078	C	T	C101398078T	GLA	NM_000169.2(GLA):c.1021G>A:p.Glu341Lys	coding	Pathogenic
X	101398079	C	T	C101398079T	GLA	NM_000169.2(GLA):c.1020G>A:p.Trp340Ter	coding	Pathogenic
X	101398081	A	G	A101398081G	GLA	NM_000169.2(GLA):c.1018T>C:p.Trp340Arg	coding	Pathogenic/Likely_pathogenic
X	101398121	G	A	G101398121A	GLA	NM_000169.2(GLA):c.1000-22C>T	noncoding	Benign
X	101398368	A	G	A101398368G	GLA	NM_000169.2(GLA):c.999+2T>C	noncoding	Pathogenic
X	101398369	C	A	C101398369A	GLA	NM_000169.2(GLA):c.999+1G>T	noncoding	Pathogenic
X	101398386	C	G	C101398386G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G	coding	Pathogenic
X	101398387	C	G	C101398387G	GLA	NM_000169.2(GLA):c.982G>C:p.Gly328Arg	coding	Pathogenic/Likely_pathogenic
X	101398387	C	T	C101398387T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2930C>T	coding	Pathogenic
X	101398390	G	A	G101398390A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>A	coding	Pathogenic
X	101398390	G	T	G101398390T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>T	coding	Pathogenic
X	101398391	C	T	C101398391T	GLA	NM_000169.3(GLA):c.978G>A:p.Lys326=	coding	Benign/Likely_benign
X	101398395	C	T	C101398395T	GLA	NM_000169.2(GLA):c.974G>A:p.Gly325Asp	coding	Pathogenic
X	101398403	G	C	G101398403C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2946G>C	coding	Pathogenic
X	101398403	G	T	G101398403T	GLA	NM_000169.2(GLA):c.966C>A:p.Asp322Glu	coding	Pathogenic
X	101398407	T	C	T101398407C	GLA	NM_000169.3(GLA):c.962A>G:p.Gln321Arg	coding	Pathogenic
X	101398419	A	G	A101398419G	GLA	NM_000169.3(GLA):c.950T>C:p.Ile317Thr	coding	Pathogenic
X	101398453	G	A	G101398453A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2996G>A	coding	Pathogenic
X	101398467	C	T	C101398467T	GLA	NM_000169.3(GLA):c.902G>A:p.Arg301Gln	coding	Pathogenic
X	101398468	G	A	G101398468A	GLA	NM_000169.2(GLA):c.901C>T:p.Arg301Ter	coding	Pathogenic
X	101398475	A	T	A101398475T	GLA	NM_000169.3(GLA):c.894T>A:p.Asn298Lys	coding	Pathogenic
X	101398479	G	A	G101398479A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3022G>A	coding	Pathogenic
X	101398481	C	T	C101398481T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3024C>T	coding	Pathogenic
X	101398483	T	C	T101398483C	GLA	NM_000169.2(GLA):c.886A>G:p.Met296Val	coding	Pathogenic/Likely_pathogenic
X	101398499	C	G	C101398499G	GLA	NM_000169.2(GLA):c.870G>C:p.Met290Ile	coding	Pathogenic
X	101398504	T	A	T101398504A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3047T>A	coding	Pathogenic
X	101398508	C	A	C101398508A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3051C>A	coding	Pathogenic
X	101398508	C	T	C101398508T	GLA	NM_000169.2(GLA):c.861G>A:p.Trp287Ter	coding	Pathogenic
X	101398518	A	G	A101398518G	GLA	NM_000169.3(GLA):c.851T>C:p.Met284Thr	coding	Pathogenic
X	101398522	G	A	G101398522A	GLA	NM_000169.2(GLA):c.847C>T:p.Gln283Ter	coding	Pathogenic
X	101398534	G	C	G101398534C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3077G>C	coding	Pathogenic
X	101398539	C	T	C101398539T	GLA	NM_000169.2(GLA):c.830G>A:p.Trp277Ter	coding	Pathogenic
X	101398543	T	C	T101398543C	GLA	NM_000169.2(GLA):c.826A>G:p.Ser276Gly	coding	Pathogenic
X	101398554	T	C	T101398554C	GLA	NM_000169.2(GLA):c.815A>G:p.Asn272Ser	coding	Pathogenic
X	101398558	C	T	C101398558T	GLA	NM_000169.3(GLA):c.811G>A:p.Gly271Ser	coding	Pathogenic
X	101398563	A	G	A101398563G	GLA	NM_000169.2(GLA):c.806T>C:p.Val269Ala	coding	Pathogenic
X	101398564	C	T	C101398564T	GLA	NM_000169.2(GLA):c.805G>A:p.Val269Met	coding	Pathogenic
X	101398569	T	C	T101398569C	GLA	NM_000169.2(GLA):c.802-2A>G	noncoding	Pathogenic
X	101398782	T	C	T101398782C	GLA	NM_000169.2(GLA):c.801+3A>G	noncoding	Pathogenic
X	101398785	C	T	C101398785T	GLA	NM_000169.2(GLA):c.801G>A:p.Met267Ile	coding	Pathogenic
X	101398789	T	A	T101398789A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3332T>A	coding	Pathogenic
X	101398795	T	A	T101398795A	GLA	NM_000169.2(GLA):c.791A>T:p.Asp264Val	coding	Pathogenic
X	101398796	C	A	C101398796A	GLA	NM_000169.2(GLA):c.790G>T:p.Asp264Tyr	coding	Pathogenic
X	101398801	C	T	C101398801T	GLA	NM_000169.2(GLA):c.785G>A:p.Trp262Ter	coding	Pathogenic
X	101398804	C	A	C101398804A	GLA	NM_000169.2(GLA):c.782G>T:p.Gly261Val	coding	Pathogenic
X	101398804	C	T	C101398804T	GLA	NM_000169.3(GLA):c.782G>A:p.Gly261Asp	coding	Pathogenic
X	101398810	G	C	G101398810C	GLA	NM_000169.2(GLA):c.776C>G:p.Pro259Arg	coding	Pathogenic
X	101398816	G	A	G101398816A	GLA	NM_000169.2(GLA):c.770C>T:p.Ala257Val	coding	Pathogenic/Likely_pathogenic
X	101398835	C	A	C101398835A	GLA	NM_000169.3(GLA):c.751G>T:p.Glu251Ter	coding	Pathogenic
X	101398838	G	A	G101398838A	GLA	NM_000169.2(GLA):c.748C>T:p.Gln250Ter	coding	Pathogenic
X	101398851	C	T	C101398851T	GLA	NM_000169.2(GLA):c.735G>A:p.Trp245Ter	coding	Pathogenic
X	101398852	C	T	C101398852T	GLA	NM_000169.2(GLA):c.734G>A:p.Trp245Ter	coding	Pathogenic
X	101398856	C	G	C101398856G	GLA;RPL36A-HNRNPH2	NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>G	coding	Pathogenic
X	101398856	C	T	C101398856T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T	coding	Pathogenic
X	101398873	C	T	C101398873T	GLA	NM_000169.2(GLA):c.713G>A:p.Ser238Asn	coding	Pathogenic
X	101398879	C	T	C101398879T	GLA	NM_000169.2(GLA):c.707G>A:p.Trp236Ter	coding	Pathogenic
X	101398880	A	G	A101398880G	GLA	NM_000169.3(GLA):c.706T>C:p.Trp236Arg	coding	Pathogenic
X	101398880	A	T	A101398880T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3423A>T	coding	Pathogenic
X	101398882	G	C	G101398882C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3425G>C	coding	Pathogenic
X	101398906	C	T	C101398906T	GLA	NM_000169.2(GLA):c.680G>A:p.Arg227Gln	coding	Pathogenic
X	101398907	G	A	G101398907A	GLA	NM_000169.2(GLA):c.679C>T:p.Arg227Ter	coding	Pathogenic
X	101398909	C	T	C101398909T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3452C>T	coding	Pathogenic
X	101398916	T	C	T101398916C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3459T>C	coding	Pathogenic
X	101398918	C	T	C101398918T	GLA	NM_000169.2(GLA):c.668G>A:p.Cys223Tyr	coding	Pathogenic
X	101398920	G	T	G101398920T	GLA	NM_000169.2(GLA):c.666C>A:p.Tyr222Ter	coding	Pathogenic
X	101398925	G	A	G101398925A	GLA	NM_000169.2(GLA):c.661C>T:p.Gln221Ter	coding	Pathogenic
X	101398928	G	A	G101398928A	GLA	NM_000169.2(GLA):c.658C>T:p.Arg220Ter	coding	Pathogenic
X	101398939	T	C	T101398939C	GLA	NM_000169.2(GLA):c.647A>G:p.Tyr216Cys	coding	Pathogenic
X	101398940	A	C	A101398940C	GLA	NM_000169.3(GLA):c.646T>G:p.Tyr216Asp	coding	Pathogenic
X	101398942	T	C	T101398942C	GLA	NM_000169.3(GLA):c.644A>G:p.Asn215Ser	coding	Pathogenic
X	101398947	C	A	C101398947A	GLA	NM_000169.2(GLA):c.640-1G>T	coding	Pathogenic
X	101398947	C	T	C101398947T	GLA	NM_000169.2(GLA):c.640-1G>A	coding	Pathogenic/Likely_pathogenic
X	101398962	T	C	T101398962C	GLA	NM_000169.2(GLA):c.640-16A>G	noncoding	Benign
X	101399082	A	G	A101399082G	GLA	NM_000169.2(GLA):c.640-136T>C	noncoding	Benign
X	101399747	C	T	C101399747T	GLA	NM_000169.3(GLA):c.640-801G>A	noncoding	Pathogenic
X	101399927	G	A	G101399927A	GLA	NM_000169.2(GLA):c.639+739C>T	noncoding	Benign
X	101400685	T	C	T101400685C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5228T>C	coding	Pathogenic
X	101400692	G	T	G101400692T	GLA	NM_000169.3(GLA):c.613C>A:p.Pro205Thr	coding	Pathogenic/Likely_pathogenic
X	101400699	A	C	A101400699C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5242A>C	coding	Pathogenic
X	101400700	C	T	C101400700T	GLA	NM_000169.2(GLA):c.605G>A:p.Cys202Tyr	coding	Pathogenic/Likely_pathogenic
X	101400745	A	G	A101400745G	GLA;RPL36A-HNRNPH2	NM_000169.2(GLA):c.560T>C:p.Met187Thr	coding	Pathogenic
X	101400757	C	A	C101400757A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>A	coding	Pathogenic
X	101400757	C	T	C101400757T	GLA;RPL36A-HNRNPH2	NM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>T	coding	Pathogenic
X	101400758	C	T	C101400758T	GLA	NM_000169.2(GLA):c.548-1G>A	coding	Pathogenic
X	101400759	T	C	T101400759C	GLA	NM_000169.2(GLA):c.548-2A>G	noncoding	Pathogenic
X	101401442	G	A	G101401442A	GLA	NM_000169.2(GLA):c.547+190C>T	noncoding	Benign
X	101401632	C	T	C101401632T	GLA	NM_000169.2(GLA):c.547G>A:p.Gly183Ser	coding	Pathogenic
X	101401659	A	G	A101401659G	GLA	NM_000169.2(GLA):c.520T>C:p.Cys174Arg	coding	Pathogenic
X	101401670	T	C	T101401670C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6213T>C	coding	Pathogenic
X	101401694	C	T	C101401694T	GLA	NM_000169.2(GLA):c.485G>A:p.Trp162Ter	coding	Pathogenic
X	101401710	G	A	G101401710A	GLA	NM_000169.2(GLA):c.469C>T:p.Gln157Ter	coding	Pathogenic
X	101401713	C	T	C101401713T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>T	coding	Pathogenic
X	101401723	G	T	G101401723T	GLA	NM_000169.2(GLA):c.456C>A:p.Tyr152Ter	coding	Pathogenic
X	101401736	C	T	C101401736T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6279C>T	coding	Pathogenic
X	101401740	C	T	C101401740T	GLA	NM_000169.2(GLA):c.439G>A:p.Gly147Arg	coding	Pathogenic
X	101401743	G	A	G101401743A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6286G>A	coding	Pathogenic
X	101401748	C	A	C101401748A	GLA	NM_000169.3(GLA):c.431G>T:p.Gly144Val	coding	Pathogenic
X	101401752	C	G	C101401752G	GLA	NM_000169.3(GLA):c.427G>C:p.Ala143Pro	coding	Pathogenic/Likely_pathogenic
X	101401755	A	G	A101401755G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6298A>G	coding	Pathogenic
X	101401757	G	A	G101401757A	GLA	NM_000169.2(GLA):c.422C>T:p.Thr141Ile	coding	Pathogenic
X	101401773	C	A	C101401773A	GLA	NM_000169.3(GLA):c.406G>T:p.Asp136Tyr	coding	Pathogenic
X	101401775	G	A	G101401775A	GLA	NM_000169.2(GLA):c.404C>T:p.Ala135Val	coding	Pathogenic
X	101401777	A	C	A101401777C	GLA	NM_000169.2(GLA):c.402T>G:p.Tyr134Ter	coding	Pathogenic
X	101401785	C	T	C101401785T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6328C>T	coding	Pathogenic
X	101401793	A	G	A101401793G	GLA	NM_000169.3(GLA):c.386T>C:p.Leu129Pro	coding	Pathogenic/Likely_pathogenic
X	101401811	T	C	T101401811C	GLA	NM_000169.2(GLA):c.370-2A>G	noncoding	Pathogenic
X	101403809	A	C	A101403809C	GLA	NM_000169.2(GLA):c.369+2T>G	noncoding	Pathogenic
X	101403810	C	T	C101403810T	GLA	NM_000169.2(GLA):c.369+1G>A	noncoding	Pathogenic
X	101403830	A	C	A101403830C	GLA	NM_000169.3(GLA):c.350T>G:p.Ile117Ser	coding	Pathogenic
X	101403843	A	G	A101403843G	GLA	NM_000169.2(GLA):c.337T>C:p.Phe113Leu	coding	Pathogenic
X	101403845	C	T	C101403845T	GLA	NM_000169.2(GLA):c.335G>A:p.Arg112His	coding	Pathogenic/Likely_pathogenic
X	101403846	G	A	G101403846A	GLA	NM_000169.2(GLA):c.334C>T:p.Arg112Cys	coding	Pathogenic
X	101403873	C	A	C101403873A	GLA	NM_000169.2(GLA):c.307G>T:p.Glu103Ter	coding	Pathogenic
X	101403882	T	A	T101403882A	GLA	NM_000169.2(GLA):c.298A>T:p.Arg100Ter	coding	Pathogenic
X	101403885	G	A	G101403885A	GLA	NM_000169.3(GLA):c.295C>T:p.Gln99Ter	coding	Pathogenic
X	101403890	G	A	G101403890A	GLA	NM_000169.2(GLA):c.290C>T:p.Ala97Val	coding	Pathogenic
X	101403895	C	T	C101403895T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8041C>T	coding	Pathogenic
X	101403899	C	T	C101403899T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8037C>T	coding	Pathogenic
X	101403903	C	T	C101403903T	GLA	NM_000169.2(GLA):c.277G>A:p.Asp93Asn	coding	Pathogenic
X	101403906	C	A	C101403906A	GLA	NM_000169.2(GLA):c.274G>T:p.Asp92Tyr	coding	Pathogenic/Likely_pathogenic
X	101403906	C	T	C101403906T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8030C>T	coding	Pathogenic
X	101403908	A	G	A101403908G	GLA	NM_000169.2(GLA):c.272T>C:p.Ile91Thr	coding	Pathogenic
X	101403938	C	T	C101403938T	GLA	NM_000169.2(GLA):c.242G>A:p.Trp81Ter	coding	Pathogenic
X	101403945	C	A	C101403945A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-7991C>A	coding	Pathogenic
X	101403986	C	A	C101403986A	GLA	NM_000169.2(GLA):c.195-1G>T	coding	Pathogenic
X	101403986	C	G	C101403986G	GLA	NM_000169.2(GLA):c.195-1G>C	coding	Pathogenic
X	101407693	T	C	T101407693C	GLA	NM_000169.2(GLA):c.194+17A>G	noncoding	Benign
X	101407710	C	G	C101407710G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G	coding	Pathogenic
X	101407716	C	T	C101407716T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4220C>T	coding	Pathogenic
X	101407735	G	A	G101407735A	GLA	NM_000169.2(GLA):c.169C>T:p.Gln57Ter	coding	Pathogenic
X	101407738	A	C	A101407738C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4198A>C	coding	Pathogenic
X	101407750	A	G	A101407750G	GLA	NM_000169.2(GLA):c.154T>C:p.Cys52Arg	coding	Pathogenic
X	101407763	C	G	C101407763G	GLA	NM_000169.2(GLA):c.141G>C:p.Trp47Cys	coding	Pathogenic
X	101407767	T	A	T101407767A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4169T>A	coding	Pathogenic
X	101407767	T	C	T101407767C	GLA	NM_000169.2(GLA):c.137A>G:p.His46Arg	coding	Pathogenic
X	101407772	C	T	C101407772T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4164C>T	coding	Pathogenic
X	101407773	C	T	C101407773T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T	coding	Pathogenic
X	101407775	G	A	G101407775A	GLA	NM_000169.3(GLA):c.129C>T:p.Gly43=	coding	Benign/Likely_benign
X	101407776	C	A	C101407776A	GLA	NM_000169.3(GLA):c.128G>T:p.Gly43Val	coding	Pathogenic
X	101407778	C	G	C101407778G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4158C>G	coding	Pathogenic
X	101407779	A	G	A101407779G	GLA	NM_000169.2(GLA):c.125T>C:p.Met42Thr	coding	Pathogenic
X	101407780	T	C	T101407780C	GLA	NM_000169.2(GLA):c.124A>G:p.Met42Val	coding	Pathogenic
X	101407786	G	A	G101407786A	GLA	NM_000169.2(GLA):c.118C>T:p.Pro40Ser	coding	Pathogenic
X	101407795	C	G	C101407795G	GLA	NM_000169.2(GLA):c.109G>C:p.Ala37Pro	coding	Pathogenic/Likely_pathogenic
X	101407803	T	C	T101407803C	GLA	NM_000169.2(GLA):c.101A>G:p.Asn34Ser	coding	Pathogenic
X	101407809	A	G	A101407809G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4127A>G	coding	Pathogenic
X	101407846	C	G	C101407846G	GLA	NM_000169.2(GLA):c.58G>C:p.Ala20Pro	coding	Pathogenic
X	101407885	C	A	C101407885A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4051C>A	coding	Pathogenic
X	101407902	A	G	A101407902G	GLA	NM_000169.2(GLA):c.2T>C:p.Met1Thr	coding	Pathogenic
X	101407913	G	A	G101407913A	GLA	NM_000169.3(GLA):c.-10C>T	coding	Benign
X	101407915	C	T	C101407915T	GLA	NM_000169.3(GLA):c.-12G>A	coding	Benign/Likely_benign
X	101407933	C	T	C101407933T	GLA	NM_000169.2(GLA):c.-30G>A	coding	Benign
X	101408008	T	C	T101408008C	GLA	NM_000169.2(GLA):c.-105A>G	coding	Benign/Likely_benign
X	101412604	C	T	C101412604T	HNRNPH2	NM_019597.5(HNRNPH2):c.616C>T:p.Arg206Trp	coding	Pathogenic
X	101412605	G	A	G101412605A	HNRNPH2	NM_019597.5(HNRNPH2):c.617G>A:p.Arg206Gln	coding	Pathogenic
X	101412614	C	T	C101412614T	HNRNPH2	NM_019597.5(HNRNPH2):c.626C>T:p.Pro209Leu	coding	Pathogenic
X	101489163	A	T	A101489163T	ARMCX4	NM_001256155.2(ARMCX4):c.574A>T:p.Thr192Ser	coding	Benign
X	101552945	G	A	G101552945A	ARMCX1	NM_016608.2(ARMCX1):c.15G>A:p.Arg5=	coding	Benign
X	101837514	G	A	G101837514A	NXF5	NM_032946.2(NXF5):c.1060C>T:p.Arg354Trp	coding	Benign
X	101837536	G	A	G101837536A	NXF5	NM_032946.2(NXF5):c.1038C>T:p.Thr346=	coding	Benign
X	101837616	G	A	G101837616A	NXF5	NM_032946.2(NXF5):c.958C>T:p.Arg320Ter	coding	Benign
X	101883614	G	A	G101883614A	ZMAT1	NM_001011657.4(ZMAT1):c.1813C>T:p.Pro605Ser	coding	Benign
X	102321892	G	A	G102321892A	NXF2	NM_022053.4(NXF2):c.1301+1G>A	coding	Benign
X	102657753	G	A	G102657753A	GPRASP1	NM_001184727.2(GPRASP1):c.3840G>A:p.Gly1280=	coding	Benign
X	102715734	A	G	A102715734G	GPRASP2	NM_138437.6(GPRASP2):c.865A>G:p.Ser289Gly	coding	Benign
X	102715949	T	C	T102715949C	GPRASP2	NM_138437.6(GPRASP2):c.1080T>C:p.Thr360=	coding	Benign
X	102717032	C	T	C102717032T	GPRASP2	NM_138437.6(GPRASP2):c.2163C>T:p.Ser721=	coding	Benign
X	102749118	G	A	G102749118A	BHLHB9	NM_001142524.2(BHLHB9):c.123G>A:p.Arg41=	coding	Benign
X	102749947	T	C	T102749947C	BHLHB9	NM_001142524.2(BHLHB9):c.952T>C:p.Cys318Arg	coding	Benign
X	102749951	A	C	A102749951C	BHLHB9	NM_001142524.2(BHLHB9):c.956A>C:p.Tyr319Ser	coding	Benign
X	103181712	T	C	T103181712C	-	NC_000023.11:g.103181712T>C	noncoding	Benign
X	103309883	T	C	T103309883C	BEX2	NM_032621.4(BEX2):c.94A>G:p.Asn32Asp	coding	Benign
X	103310417	C	T	C103310417T	BEX2	NM_032621.4(BEX2):c.-65G>A	coding	Benign
X	103707365	C	A	C103707365A	-	NR_164162.1(GLRA4):n.1525G>T	coding	Benign
X	103707415	T	C	T103707415C	-	NR_164162.1(GLRA4):n.1475A>G	coding	Benign
X	103707440	A	G	A103707440G	-	NR_164162.1(GLRA4):n.1450T>C	coding	Benign
X	103707507	T	C	T103707507C	-	NR_164162.1(GLRA4):n.1383A>G	coding	Benign
X	103719107	C	T	C103719107T	-	NR_164162.1(GLRA4):n.1175G>A	coding	Benign
X	103719191	G	A	G103719191A	-	NR_164162.1(GLRA4):n.1091C>T	coding	Benign
X	103719255	G	A	G103719255A	-	NR_164162.1(GLRA4):n.1027C>T	coding	Benign
X	103722197	G	A	G103722197A	-	NR_164162.1(GLRA4):n.965C>T	coding	Benign
X	103724114	C	T	C103724114T	-	NR_164162.1(GLRA4):n.750G>A	coding	Benign
X	103724167	A	C	A103724167C	-	NR_164162.1(GLRA4):n.697T>G	coding	Benign
X	103724940	G	A	G103724940A	-	NR_164162.1(GLRA4):n.452C>T	coding	Benign
X	103776965	C	T	C103776965T	PLP1	NM_000533.5(PLP1):c.-31C>T	noncoding	Benign/Likely_benign
X	103776996	A	G	A103776996G	PLP1	NM_000533.5(PLP1):c.1A>G:p.Met1Val	coding	Pathogenic
X	103776997	T	C	T103776997C	PLP1	NM_000533.5(PLP1):c.2T>C:p.Met1Thr	coding	Pathogenic
X	103776997	T	G	T103776997G	PLP1	NM_000533.5(PLP1):c.2T>G:p.Met1Arg	coding	Pathogenic
X	103776998	G	A	G103776998A	PLP1	NM_000533.5(PLP1):c.3G>A:p.Met1Ile	coding	Pathogenic
X	103785471	T	C	T103785471C	PLP1	NM_000533.5(PLP1):c.5-111T>C	noncoding	Benign
X	103785621	C	T	C103785621T	PLP1	NM_000533.5(PLP1):c.44C>T:p.Pro15Leu	coding	Pathogenic
X	103785705	C	T	C103785705T	PLP1	NM_000533.5(PLP1):c.128C>T:p.Thr43Ile	coding	Pathogenic
X	103785743	C	T	C103785743T	PLP1	NM_000533.5(PLP1):c.166C>T:p.Gln56Ter	coding	Pathogenic
X	103785745	A	G	A103785745G	PLP1	NM_000533.5(PLP1):c.168A>G:p.Gln56=	coding	Benign/Likely_benign
X	103785746	G	T	G103785746T	PLP1	NM_000533.5(PLP1):c.169G>T:p.Asp57Tyr	coding	Pathogenic
X	103785750	A	G	A103785750G	PLP1	NM_000533.5(PLP1):c.173A>G:p.Tyr58Cys	coding	Pathogenic
X	103785752	G	T	G103785752T	PLP1	NM_000533.5(PLP1):c.175G>T:p.Glu59Ter	coding	Pathogenic
X	103785769	G	A	G103785769A	PLP1	NM_000533.5(PLP1):c.191+1G>A	coding	Pathogenic
X	103785769	G	T	G103785769T	PLP1	NM_000533.5(PLP1):c.191+1G>T	coding	Pathogenic
X	103786493	G	A	G103786493A	PLP1	NM_000533.5(PLP1):c.220G>A:p.Gly74Arg	coding	Pathogenic
X	103786568	C	T	C103786568T	PLP1	NM_000533.5(PLP1):c.295C>T:p.Gln99Ter	coding	Pathogenic
X	103786691	C	T	C103786691T	PLP1	NM_000533.5(PLP1):c.418C>T:p.His140Tyr	coding	Pathogenic
X	103786707	G	A	G103786707A	PLP1	NM_000533.5(PLP1):c.434G>A:p.Trp145Ter	coding	Pathogenic
X	103786714	A	T	A103786714T	PLP1	NM_000533.5(PLP1):c.441A>T:p.Gly147=	coding	Pathogenic
X	103786726	G	A	G103786726A	PLP1	NM_000533.5(PLP1):c.453G>A:p.Lys151=	coding	Pathogenic
X	103786727	G	C	G103786727C	PLP1	NM_000533.5(PLP1):c.453+1G>C	coding	Pathogenic
X	103786728	T	C	T103786728C	PLP1	NM_000533.5(PLP1):c.453+2T>C	noncoding	Pathogenic
X	103786730	A	G	A103786730G	PLP1	NM_000533.5(PLP1):c.453+4A>G	noncoding	Pathogenic
X	103786885	G	A	G103786885A	PLP1	NM_000533.5(PLP1):c.453+159G>A	noncoding	Pathogenic
X	103786890	G	A	G103786890A	PLP1	NM_000533.5(PLP1):c.453+164G>A	noncoding	Pathogenic
X	103787484	T	G	T103787484G	PLP1	NM_000533.5(PLP1):c.454-314T>G	noncoding	Pathogenic
X	103787486	C	G	C103787486G	PLP1	NM_000533.5(PLP1):c.454-312C>G	noncoding	Pathogenic
X	103787811	C	T	C103787811T	PLP1	NM_000533.5(PLP1):c.467C>T:p.Thr156Ile	coding	Pathogenic
X	103787833	G	A	G103787833A	PLP1	NM_000533.5(PLP1):c.489G>A:p.Trp163Ter	coding	Pathogenic
X	103787853	C	T	C103787853T	PLP1	NM_000533.5(PLP1):c.509C>T:p.Ser170Phe	coding	Pathogenic
X	103787888	A	C	A103787888C	PLP1	NM_000533.5(PLP1):c.544A>C:p.Thr182Pro	coding	Pathogenic
X	103787904	T	C	T103787904C	PLP1	NM_000533.5(PLP1):c.560T>C:p.Ile187Thr	coding	Pathogenic
X	103787951	G	A	G103787951A	PLP1	NM_000533.5(PLP1):c.607G>A:p.Asp203Asn	coding	Pathogenic
X	103787951	G	C	G103787951C	PLP1	NM_000533.5(PLP1):c.607G>C:p.Asp203His	coding	Pathogenic
X	103787953	T	C	T103787953C	PLP1	NM_000533.5(PLP1):c.609T>C:p.Asp203=	coding	Benign
X	103788460	C	T	C103788460T	PLP1	NM_000533.5(PLP1):c.646C>T:p.Pro216Ser	coding	Pathogenic
X	103788469	G	T	G103788469T	PLP1	NM_000533.5(PLP1):c.655G>T:p.Val219Phe	coding	Pathogenic
X	103788475	G	T	G103788475T	PLP1	NM_000533.5(PLP1):c.661G>T:p.Gly221Cys	coding	Pathogenic
X	103788485	T	C	T103788485C	PLP1	NM_000533.5(PLP1):c.671T>C:p.Leu224Pro	coding	Pathogenic
X	103789346	T	C	T103789346C	PLP1	NM_000533.5(PLP1):c.710T>C:p.Phe237Ser	coding	Pathogenic
X	103789361	C	T	C103789361T	PLP1	NM_000533.5(PLP1):c.725C>T:p.Ala242Val	coding	Pathogenic
X	103789373	G	C	G103789373C	PLP1	NM_000533.5(PLP1):c.737G>C:p.Gly246Ala	coding	Pathogenic/Likely_pathogenic
X	103789400	T	C	T103789400C	PLP1	NM_000533.5(PLP1):c.762+2T>C	noncoding	Pathogenic
X	103789401	G	T	G103789401T	PLP1	NM_000533.5(PLP1):c.762+3G>T	noncoding	Pathogenic
X	103790581	C	T	C103790581T	PLP1	NM_000533.5(PLP1):c.817C>T:p.Arg273Ter	coding	Pathogenic
X	104012755	A	G	A104012755G	H2BW1	NM_001002916.4(H2BW1):c.492-7T>C	noncoding	Benign
X	104250490	G	C	G104250490C	ESX1	NM_153448.4(ESX1):c.959C>G:p.Pro320Arg	coding	Benign
X	105908745	C	T	C105908745T	NRK	NM_198465.4(NRK):c.1104C>T:p.His368=	coding	Benign
X	105908954	G	A	G105908954A	NRK	NM_198465.4(NRK):c.1313G>A:p.Arg438Gln	coding	Benign
X	105915745	C	T	C105915745T	NRK	NM_198465.4(NRK):c.2365C>T:p.Pro789Ser	coding	Benign
X	105934337	A	G	A105934337G	NRK	NM_198465.4(NRK):c.3392A>G:p.Asn1131Ser	coding	Benign
X	105939912	T	C	T105939912C	NRK	NM_198465.4(NRK):c.3838T>C:p.Leu1280=	coding	Benign
X	106033506	T	G	T106033506G	SERPINA7	NM_000354.6(SERPINA7):c.1242A>C:p.Glu414Asp	coding	Benign
X	106033693	T	A	T106033693A	SERPINA7	NM_000354.6(SERPINA7):c.1055A>T:p.Lys352Met	coding	Benign
X	106034293	T	A	T106034293A	SERPINA7	NM_000354.5(SERPINA7):c.986A>T:p.Tyr329Phe	coding	Pathogenic
X	106036488	C	T	C106036488T	SERPINA7	NM_000354.5(SERPINA7):c.571G>A:p.Asp191Asn	coding	Pathogenic
X	106036712	A	T	A106036712T	SERPINA7	NM_000354.5(SERPINA7):c.347T>A:p.Ile116Asn	coding	Pathogenic
X	106036852	G	T	G106036852T	SERPINA7	NM_000354.6(SERPINA7):c.207C>A:p.Ser69=	coding	Benign
X	106037037	C	A	C106037037A	SERPINA7	NM_000354.6(SERPINA7):c.22G>T:p.Val8Phe	coding	Benign
X	106205453	A	G	A106205453G	PWWP3B	NM_001171020.2(PWWP3B):c.21A>G:p.Leu7=	coding	Benign
X	106205668	C	T	C106205668T	PWWP3B	NM_001171020.2(PWWP3B):c.236C>T:p.Pro79Leu	coding	Benign
X	106206433	T	C	T106206433C	PWWP3B	NM_001171020.2(PWWP3B):c.1001T>C:p.Met334Thr	coding	Benign
X	106612538	T	C	T106612538C	RADX	NM_018015.6(RADX):c.458T>C:p.Val153Ala	coding	Benign
X	106632644	A	C	A106632644C	RADX	NM_018015.6(RADX):c.999A>C:p.Arg333=	coding	Benign
X	106727195	C	T	C106727195T	RNF128	NM_194463.2(RNF128):c.282C>T:p.Asn94=	coding	Benign
X	106773038	A	T	A106773038T	RNF128	NM_194463.2(RNF128):c.610A>T:p.Asn204Tyr	coding	Benign
X	106900812	G	A	G106900812A	RIPPLY1	NM_138382.3(RIPPLY1):c.393C>T:p.Tyr131=	coding	Benign
X	106901501	G	A	G106901501A	RIPPLY1	NM_138382.3(RIPPLY1):c.269C>T:p.Ala90Val	coding	Benign
X	106901521	C	T	C106901521T	RIPPLY1	NM_138382.3(RIPPLY1):c.249G>A:p.Thr83=	coding	Benign
X	106928709	G	C	G106928709C	CLDN2	NM_020384.4(CLDN2):c.481G>C:p.Gly161Arg	coding	Pathogenic
X	106942721	C	T	C106942721T	MORC4	NM_024657.5(MORC4):c.2170G>A:p.Ala724Thr	coding	Benign
X	106942929	C	T	C106942929T	MORC4	NM_024657.5(MORC4):c.1962G>A:p.Gln654=	coding	Benign
X	107212977	C	G	C107212977G	DNAAF6	NM_173494.2(DNAAF6):c.102C>G:p.Ala34=	coding	Benign
X	107218881	G	A	G107218881A	DNAAF6	NM_173494.2(DNAAF6):c.244G>A:p.Glu82Lys	coding	Benign
X	107218927	G	T	G107218927T	DNAAF6	NM_173494.2(DNAAF6):c.290G>T:p.Gly97Val	coding	Pathogenic
X	107222767	C	T	C107222767T	DNAAF6	NM_173494.2(DNAAF6):c.355C>T:p.Gln119Ter	coding	Pathogenic
X	107600543	G	T	G107600543T	FRMPD3	NM_032428.2(FRMPD3):c.2603G>T:p.Arg868Leu	coding	Benign
X	107628640	C	T	C107628640T	PRPS1	NM_002764.4(PRPS1):c.12C>T:p.Ile4=	coding	Benign/Likely_benign
X	107628674	T	C	T107628674C	PRPS1	NM_001204402.1(PRPS1):c.-159T>C	coding	Pathogenic
X	107639301	A	C	A107639301C	PRPS1	NM_002764.3(PRPS1):c.129A>C:p.Glu43Asp	coding	Pathogenic
X	107639326	G	C	G107639326C	PRPS1	NM_001204402.1(PRPS1):c.-82-5851G>C	coding	Pathogenic
X	107639365	G	A	G107639365A	PRPS1	NM_001204402.1(PRPS1):c.-82-5812G>A	coding	Pathogenic
X	107639431	G	A	G107639431A	PRPS1	NM_001204402.1(PRPS1):c.-82-5746G>A	coding	Pathogenic
X	107639460	G	A	G107639460A	PRPS1	NM_002764.3(PRPS1):c.288G>A:p.Arg96=	coding	Benign/Likely_benign
X	107640900	A	G	A107640900G	PRPS1	NM_002764.3(PRPS1):c.307-2A>G	noncoding	Pathogenic
X	107640931	T	C	T107640931C	PRPS1	NM_002764.3(PRPS1):c.336T>C:p.Val112=	coding	Benign
X	107640932	G	T	G107640932T	PRPS1	NM_002764.3(PRPS1):c.337G>T:p.Ala113Ser	coding	Pathogenic
X	107640938	A	G	A107640938G	PRPS1	NM_002764.3(PRPS1):c.343A>G:p.Met115Val	coding	Pathogenic
X	107640957	C	G	C107640957G	PRPS1	NM_001204402.1(PRPS1):c.-82-4220C>G	coding	Pathogenic
X	107640980	C	A	C107640980A	PRPS1	NM_001204402.1(PRPS1):c.-82-4197C>A	coding	Pathogenic
X	107640993	A	C	A107640993C	PRPS1	NM_002764.3(PRPS1):c.398A>C:p.Gln133Pro	coding	Pathogenic
X	107642384	G	C	G107642384C	PRPS1	NM_001204402.1(PRPS1):c.-82-2793G>C	coding	Pathogenic
X	107642404	G	A	G107642404A	PRPS1	NM_002764.3(PRPS1):c.444G>A:p.Glu148=	coding	Benign/Likely_benign
X	107642407	G	A	G107642407A	PRPS1	NM_002764.3(PRPS1):c.447G>A:p.Pro149=	coding	Benign/Likely_benign
X	107642416	A	G	A107642416G	PRPS1	NM_002764.4(PRPS1):c.456A>G:p.Leu152=	coding	Benign/Likely_benign
X	107642437	C	T	C107642437T	PRPS1	NM_002764.4(PRPS1):c.477C>T:p.Ile159=	coding	Benign
X	107645103	C	T	C107645103T	PRPS1	NM_002764.3(PRPS1):c.531-74C>T	noncoding	Benign
X	107645193	G	C	G107645193C	PRPS1	NM_001204402.1(PRPS1):c.-66G>C	coding	Pathogenic
X	107645215	C	T	C107645215T	PRPS1	NM_001204402.1(PRPS1):c.-44C>T	coding	Pathogenic
X	107645219	G	A	G107645219A	PRPS1	NM_002764.3(PRPS1):c.573G>A:p.Leu191=	coding	Benign/Likely_benign
X	107645225	C	G	C107645225G	PRPS1	NM_001204402.1(PRPS1):c.-34C>G	coding	Pathogenic
X	107645306	T	C	T107645306C	PRPS1	NM_002764.4(PRPS1):c.660T>C:p.Asp220=	coding	Benign
X	107647600	C	T	C107647600T	PRPS1	NM_002764.3(PRPS1):c.705-6C>T	noncoding	Benign/Likely_benign
X	107647621	C	T	C107647621T	PRPS1	NM_002764.4(PRPS1):c.720C>T:p.Gly240=	coding	Benign/Likely_benign
X	107647731	A	C	A107647731C	PRPS1	NM_002764.3(PRPS1):c.830A>C:p.Gln277Pro	coding	Pathogenic
X	107649706	C	T	C107649706T	PRPS1	NM_002764.3(PRPS1):c.865-234C>T	noncoding	Benign
X	107649944	T	C	T107649944C	PRPS1	NM_002764.3(PRPS1):c.869T>C:p.Ile290Thr	coding	Pathogenic
X	107649991	G	A	G107649991A	PRPS1	NM_002764.3(PRPS1):c.916G>A:p.Gly306Arg	coding	Pathogenic
X	107649999	C	T	C107649999T	PRPS1	NM_002764.4(PRPS1):c.924C>T:p.Ser308=	coding	Benign
X	107650000	G	T	G107650000T	PRPS1	NM_002764.3(PRPS1):c.925G>T:p.Val309Phe	coding	Pathogenic
X	107650017	C	T	C107650017T	PRPS1	NM_002764.4(PRPS1):c.942C>T:p.Ser314=	coding	Benign/Likely_benign
X	107650190	C	T	C107650190T	PRPS1	NM_002764.4(PRPS1):c.*158C>T	noncoding	Benign
X	107650210	G	A	G107650210A	PRPS1	NM_002764.3(PRPS1):c.*178G>A	noncoding	Benign
X	107650757	T	C	T107650757C	PRPS1	NM_002764.3(PRPS1):c.*725T>C	noncoding	Benign
X	107714525	C	T	C107714525T	TSC22D3	NM_001318468.1(TSC22D3):c.597G>A:p.Ala199=	coding	Benign
X	107841247	C	A	C107841247A	MID2	NM_012216.4(MID2):c.582C>A:p.Thr194=	coding	Benign
X	107904072	C	T	C107904072T	MID2	NM_012216.4(MID2):c.924+7C>T	noncoding	Benign
X	107905581	A	G	A107905581G	MID2	NM_012216.4(MID2):c.1028A>G:p.Asn343Ser	coding	Benign
X	107905593	G	A	G107905593A	MID2	NM_012216.4(MID2):c.1040G>A:p.Arg347Gln	coding	Pathogenic
X	107917732	G	A	G107917732A	MID2	NM_012216.4(MID2):c.1428G>A:p.Ala476=	coding	Benign
X	107926098	A	G	A107926098G	MID2	NM_012216.4(MID2):c.1602A>G:p.Gln534=	coding	Benign
X	108067004	C	T	C108067004T	VSIG1	NM_182607.5(VSIG1):c.282C>T:p.Asn94=	coding	Benign
X	108084978	C	T	C108084978T	PSMD10	NM_002814.4(PSMD10):c.677G>A:p.Gly226Asp	coding	Benign
X	108087715	G	A	G108087715A	PSMD10	NM_002814.4(PSMD10):c.498C>T:p.Asn166=	coding	Benign
X	108131267	G	T	G108131267T	ATG4A	NM_052936.5(ATG4A):c.201G>T:p.Thr67=	coding	Benign
X	108137109	C	T	C108137109T	ATG4A	NM_052936.5(ATG4A):c.486C>T:p.Asp162=	coding	Benign
X	108137163	A	C	A108137163C	ATG4A	NM_052936.5(ATG4A):c.540A>C:p.Glu180Asp	coding	Benign
X	108150219	G	A	G108150219A	ATG4A	NM_052936.5(ATG4A):c.882G>A:p.Thr294=	coding	Benign
X	108159454	G	A	G108159454A	COL4A6	NM_033641.4(COL4A6):c.4812+8C>T	noncoding	Benign
X	108161585	G	C	G108161585C	COL4A6	NM_033641.4(COL4A6):c.4333+34C>G	noncoding	Benign
X	108161653	A	T	A108161653T	COL4A6	NM_033641.4(COL4A6):c.4299T>A:p.Gly1433=	coding	Benign
X	108163026	A	G	A108163026G	COL4A6	NM_033641.4(COL4A6):c.4082T>C:p.Leu1361Pro	coding	Benign
X	108164992	C	T	C108164992T	COL4A6	NM_033641.4(COL4A6):c.3855G>A:p.Ser1285=	coding	Benign
X	108165418	C	A	C108165418A	COL4A6	NM_033641.4(COL4A6):c.3760G>T:p.Ala1254Ser	coding	Benign/Likely_benign
X	108170621	T	C	T108170621C	COL4A6	NM_033641.4(COL4A6):c.3481A>G:p.Ile1161Val	coding	Benign
X	108170628	G	A	G108170628A	COL4A6	NM_033641.4(COL4A6):c.3474C>T:p.Pro1158=	coding	Benign
X	108170700	G	A	G108170700A	COL4A6	NM_033641.4(COL4A6):c.3402C>T:p.Ala1134=	coding	Benign
X	108170822	G	A	G108170822A	COL4A6	NM_033641.4(COL4A6):c.3373C>T:p.Pro1125Ser	coding	Benign
X	108172479	T	C	T108172479C	COL4A6	NM_033641.4(COL4A6):c.3192A>G:p.Pro1064=	coding	Benign
X	108172536	C	T	C108172536T	COL4A6	NM_033641.4(COL4A6):c.3139-4G>A	noncoding	Benign
X	108174500	G	A	G108174500A	COL4A6	NM_033641.4(COL4A6):c.3078C>T:p.Gly1026=	coding	Benign
X	108175158	T	A	T108175158A	COL4A6	NM_033641.4(COL4A6):c.2888A>T:p.Asn963Ile	coding	Benign
X	108175673	A	G	A108175673G	COL4A6	NM_033641.4(COL4A6):c.2811T>C:p.Ala937=	coding	Benign
X	108175676	A	G	A108175676G	COL4A6	NM_033641.4(COL4A6):c.2808T>C:p.Arg936=	coding	Benign
X	108178799	G	T	G108178799T	COL4A6	NM_033641.4(COL4A6):c.2400C>A:p.Gly800=	coding	Benign
X	108179444	C	T	C108179444T	COL4A6	NM_033641.4(COL4A6):c.2132-6G>A	noncoding	Benign/Likely_benign
X	108180654	A	G	A108180654G	COL4A6	NM_033641.4(COL4A6):c.2024-32T>C	noncoding	Benign
X	108187279	C	T	C108187279T	COL4A6	NM_033641.4(COL4A6):c.1768G>A:p.Gly590Ser	coding	Pathogenic
X	108187333	C	T	C108187333T	COL4A6	NM_033641.4(COL4A6):c.1768-54G>A	noncoding	Benign
X	108187961	T	A	T108187961A	COL4A6	NM_033641.4(COL4A6):c.1654A>T:p.Ile552Phe	coding	Benign
X	108188673	G	A	G108188673A	COL4A6	NM_033641.4(COL4A6):c.1431C>T:p.Asp477=	coding	Benign
X	108190439	C	T	C108190439T	COL4A6	NM_033641.4(COL4A6):c.1379G>A:p.Arg460Gln	coding	Benign
X	108190458	A	G	A108190458G	COL4A6	NM_033641.4(COL4A6):c.1360T>C:p.Ser454Pro	coding	Benign
X	108192528	T	C	T108192528C	COL4A6	NM_033641.4(COL4A6):c.1125A>G:p.Glu375=	coding	Benign/Likely_benign
X	108204335	C	T	C108204335T	COL4A6	NM_033641.4(COL4A6):c.765G>A:p.Gly255=	coding	Benign
X	108204455	C	T	C108204455T	COL4A6	NM_033641.4(COL4A6):c.688-43G>A	noncoding	Benign
X	108205454	T	C	T108205454C	COL4A6	NM_033641.4(COL4A6):c.672A>G:p.Gly224=	coding	Benign
X	108209987	A	C	A108209987C	COL4A6	NM_033641.4(COL4A6):c.528T>G:p.Pro176=	coding	Benign/Likely_benign
X	108214121	G	A	G108214121A	COL4A6	NM_033641.4(COL4A6):c.432C>T:p.Leu144=	coding	Benign
X	108219699	G	A	G108219699A	COL4A6	NM_033641.4(COL4A6):c.323C>T:p.Pro108Leu	coding	Benign
X	108219719	A	G	A108219719G	COL4A6	NM_033641.4(COL4A6):c.303T>C:p.Phe101=	coding	Benign
X	108219736	T	A	T108219736A	COL4A6	NM_033641.4(COL4A6):c.286A>T:p.Met96Leu	coding	Benign/Likely_benign
X	108219819	T	A	T108219819A	COL4A6	NM_033641.4(COL4A6):c.280-77A>T	noncoding	Benign
X	108440126	A	G	A108440126G	COL4A5	NM_033380.3(COL4A5):c.1A>G:p.Met1Val	coding	Pathogenic
X	108440127	T	A	T108440127A	COL4A5	NM_033380.3(COL4A5):c.2T>A:p.Met1Lys	coding	Pathogenic
X	108440138	G	T	G108440138T	COL4A5	NM_033380.3(COL4A5):c.13G>T:p.Gly5Ter	coding	Pathogenic
X	108440207	G	C	G108440207C	COL4A5	NM_033380.3(COL4A5):c.81+1G>C	coding	Pathogenic
X	108539746	G	T	G108539746T	COL4A5	NM_033380.3(COL4A5):c.82G>T:p.Ala28Ser	coding	Pathogenic
X	108539751	C	A	C108539751A	COL4A5	NM_033380.3(COL4A5):c.87C>A:p.Cys29Ter	coding	Pathogenic
X	108539754	T	G	T108539754G	COL4A5	NM_033380.3(COL4A5):c.90T>G:p.Tyr30Ter	coding	Pathogenic
X	108539771	C	G	C108539771G	COL4A5	NM_033380.3(COL4A5):c.107C>G:p.Ser36Ter	coding	Pathogenic
X	108559063	G	A	G108559063A	COL4A5	NM_033380.3(COL4A5):c.142-1G>A	noncoding	Pathogenic
X	108559064	G	A	G108559064A	COL4A5	NM_033380.3(COL4A5):c.142G>A:p.Gly48Arg	coding	Pathogenic
X	108559074	G	T	G108559074T	COL4A5	NM_033380.3(COL4A5):c.152G>T:p.Gly51Val	coding	Pathogenic
X	108559083	G	A	G108559083A	COL4A5	NM_033380.3(COL4A5):c.161G>A:p.Gly54Asp	coding	Pathogenic
X	108559135	G	A	G108559135A	COL4A5	NM_033380.3(COL4A5):c.213G>A:p.Pro71=	coding	Benign
X	108559154	G	A	G108559154A	COL4A5	NM_033380.3(COL4A5):c.231+1G>A	coding	Pathogenic
X	108563881	G	A	G108563881A	COL4A5	NM_033380.3(COL4A5):c.232-1G>A	noncoding	Pathogenic
X	108563881	G	T	G108563881T	COL4A5	NM_033380.3(COL4A5):c.232-1G>T	noncoding	Pathogenic
X	108563912	C	T	C108563912T	COL4A5	NM_033380.3(COL4A5):c.262C>T:p.Pro88Ser	coding	Benign
X	108563931	G	A	G108563931A	COL4A5	NM_033380.3(COL4A5):c.276+5G>A	noncoding	Pathogenic
X	108563931	G	T	G108563931T	COL4A5	NM_033380.3(COL4A5):c.276+5G>T	noncoding	Pathogenic
X	108568628	G	T	G108568628T	COL4A5	NM_033380.3(COL4A5):c.277-1G>T	noncoding	Pathogenic
X	108568638	G	A	G108568638A	COL4A5	NM_033380.3(COL4A5):c.286G>A:p.Gly96Arg	coding	Pathogenic
X	108568675	T	G	T108568675G	COL4A5	NM_033380.3(COL4A5):c.321+2T>G	noncoding	Pathogenic
X	108568758	G	A	G108568758A	COL4A5	NM_033380.3(COL4A5):c.322-1G>A	noncoding	Pathogenic
X	108568773	C	T	C108568773T	COL4A5	NM_033380.3(COL4A5):c.336C>T:p.His112=	coding	Benign
X	108568804	G	A	G108568804A	COL4A5	NM_033380.3(COL4A5):c.367G>A:p.Gly123Arg	coding	Pathogenic
X	108568805	G	A	G108568805A	COL4A5	NM_033380.3(COL4A5):c.368G>A:p.Gly123Glu	coding	Pathogenic
X	108568821	G	A	G108568821A	COL4A5	NM_033380.3(COL4A5):c.384G>A:p.Lys128=	coding	Pathogenic
X	108568822	G	A	G108568822A	COL4A5	NM_033380.3(COL4A5):c.384+1G>A	coding	Pathogenic
X	108570694	G	A	G108570694A	COL4A5	NM_033380.3(COL4A5):c.385-719G>A	noncoding	Pathogenic
X	108571411	A	G	A108571411G	COL4A5	NM_033380.3(COL4A5):c.385-2A>G	noncoding	Pathogenic
X	108571411	A	T	A108571411T	COL4A5	NM_033380.3(COL4A5):c.385-2A>T	noncoding	Pathogenic
X	108571412	G	C	G108571412C	COL4A5	NM_033380.3(COL4A5):c.385-1G>C	noncoding	Pathogenic
X	108571413	G	A	G108571413A	COL4A5	NM_033380.3(COL4A5):c.385G>A:p.Gly129Arg	coding	Pathogenic
X	108571414	G	A	G108571414A	COL4A5	NM_033380.3(COL4A5):c.386G>A:p.Gly129Glu	coding	Pathogenic
X	108571414	G	T	G108571414T	COL4A5	NM_033380.3(COL4A5):c.386G>T:p.Gly129Val	coding	Pathogenic
X	108571416	G	T	G108571416T	COL4A5	NM_033380.3(COL4A5):c.388G>T:p.Glu130Ter	coding	Pathogenic
X	108571432	G	A	G108571432A	COL4A5	NM_000495.5(COL4A5):c.404G>A:p.Gly135Asp	coding	Pathogenic
X	108571434	A	G	A108571434G	COL4A5	NM_033380.3(COL4A5):c.406A>G:p.Ser136Gly	coding	Benign/Likely_benign
X	108571440	G	A	G108571440A	COL4A5	NM_033380.3(COL4A5):c.412G>A:p.Gly138Ser	coding	Pathogenic
X	108571458	G	A	G108571458A	COL4A5	NM_033380.3(COL4A5):c.430G>A:p.Gly144Ser	coding	Pathogenic
X	108571458	G	C	G108571458C	COL4A5	NM_033380.3(COL4A5):c.430G>C:p.Gly144Arg	coding	Pathogenic
X	108571459	G	A	G108571459A	COL4A5	NM_033380.3(COL4A5):c.431G>A:p.Gly144Asp	coding	Pathogenic
X	108571467	G	A	G108571467A	COL4A5	NM_033380.3(COL4A5):c.438+1G>A	coding	Pathogenic
X	108571468	T	C	T108571468C	COL4A5	NM_033380.3(COL4A5):c.438+2T>C	noncoding	Pathogenic
X	108571471	G	A	G108571471A	COL4A5	NM_033380.3(COL4A5):c.438+5G>A	noncoding	Pathogenic
X	108571830	G	A	G108571830A	COL4A5	NM_033380.3(COL4A5):c.458G>A:p.Gly153Asp	coding	Pathogenic
X	108571839	T	C	T108571839C	COL4A5	NM_033380.3(COL4A5):c.465+2T>C	noncoding	Pathogenic
X	108573562	G	A	G108573562A	COL4A5	NM_033380.3(COL4A5):c.466-12G>A	noncoding	Pathogenic
X	108573572	A	G	A108573572G	COL4A5	NM_033380.3(COL4A5):c.466-2A>G	noncoding	Pathogenic
X	108573596	T	C	T108573596C	COL4A5	NM_033380.3(COL4A5):c.488T>C:p.Met163Thr	coding	Benign/Likely_benign
X	108573619	G	C	G108573619C	COL4A5	NM_000495.5(COL4A5):c.511G>C:p.Gly171Arg	coding	Pathogenic
X	108573628	G	C	G108573628C	COL4A5	NM_033380.3(COL4A5):c.520G>C:p.Gly174Arg	coding	Pathogenic
X	108573637	G	C	G108573637C	COL4A5	NM_033380.3(COL4A5):c.529G>C:p.Gly177Arg	coding	Pathogenic
X	108573637	G	T	G108573637T	COL4A5	NM_033380.3(COL4A5):c.529G>T:p.Gly177Cys	coding	Pathogenic
X	108573646	G	A	G108573646A	COL4A5	NM_033380.3(COL4A5):c.538G>A:p.Gly180Arg	coding	Pathogenic
X	108573652	C	T	C108573652T	COL4A5	NM_033380.3(COL4A5):c.544C>T:p.Gln182Ter	coding	Pathogenic
X	108573655	G	A	G108573655A	COL4A5	NM_033380.3(COL4A5):c.546+1G>A	coding	Pathogenic
X	108575907	C	A	C108575907A	COL4A5	NM_033380.3(COL4A5):c.547-3C>A	noncoding	Pathogenic
X	108575908	A	G	A108575908G	COL4A5	NM_033380.3(COL4A5):c.547-2A>G	noncoding	Pathogenic
X	108575909	G	A	G108575909A	COL4A5	NM_033380.3(COL4A5):c.547-1G>A	noncoding	Pathogenic
X	108575911	G	T	G108575911T	COL4A5	NM_033380.3(COL4A5):c.548G>T:p.Gly183Val	coding	Pathogenic
X	108575943	A	G	A108575943G	COL4A5	NM_033380.3(COL4A5):c.580A>G:p.Ile194Val	coding	Benign
X	108575947	G	A	G108575947A	COL4A5	NM_033380.3(COL4A5):c.584G>A:p.Gly195Asp	coding	Pathogenic
X	108575947	G	T	G108575947T	COL4A5	NM_033380.3(COL4A5):c.584G>T:p.Gly195Val	coding	Pathogenic
X	108575956	G	A	G108575956A	COL4A5	NM_033380.3(COL4A5):c.593G>A:p.Gly198Glu	coding	Pathogenic
X	108575965	G	T	G108575965T	COL4A5	NM_033380.3(COL4A5):c.602G>T:p.Gly201Val	coding	Pathogenic
X	108575973	G	A	G108575973A	COL4A5	NM_033380.3(COL4A5):c.609+1G>A	coding	Pathogenic
X	108575993	T	C	T108575993C	COL4A5	NM_033380.3(COL4A5):c.609+21T>C	noncoding	Benign
X	108576847	G	T	G108576847T	COL4A5	NM_033380.3(COL4A5):c.609+875G>T	noncoding	Pathogenic
X	108577950	A	G	A108577950G	COL4A5	NM_033380.3(COL4A5):c.610-2A>G	noncoding	Pathogenic
X	108577950	A	T	A108577950T	COL4A5	NM_033380.3(COL4A5):c.610-2A>T	noncoding	Pathogenic
X	108577953	G	A	G108577953A	COL4A5	NM_033380.3(COL4A5):c.611G>A:p.Gly204Asp	coding	Pathogenic
X	108577953	G	T	G108577953T	COL4A5	NM_033380.3(COL4A5):c.611G>T:p.Gly204Val	coding	Pathogenic
X	108577980	G	A	G108577980A	COL4A5	NM_033380.3(COL4A5):c.638G>A:p.Gly213Glu	coding	Pathogenic
X	108578072	C	T	C108578072T	COL4A5	NM_033380.3(COL4A5):c.646-6C>T	noncoding	Benign/Likely_benign
X	108578075	C	A	C108578075A	COL4A5	NM_033380.3(COL4A5):c.646-3C>A	noncoding	Pathogenic
X	108578078	G	A	G108578078A	COL4A5	NM_033380.3(COL4A5):c.646G>A:p.Gly216Arg	coding	Pathogenic
X	108578079	G	A	G108578079A	COL4A5	NM_033380.3(COL4A5):c.647G>A:p.Gly216Glu	coding	Pathogenic
X	108578079	G	T	G108578079T	COL4A5	NM_033380.3(COL4A5):c.647G>T:p.Gly216Val	coding	Pathogenic
X	108578087	G	A	G108578087A	COL4A5	NM_033380.3(COL4A5):c.655G>A:p.Gly219Ser	coding	Pathogenic
X	108578091	T	A	T108578091A	COL4A5	NM_033380.3(COL4A5):c.659T>A:p.Leu220Ter	coding	Pathogenic
X	108578097	T	G	T108578097G	COL4A5	NM_033380.3(COL4A5):c.665T>G:p.Phe222Cys	coding	Pathogenic
X	108578111	G	A	G108578111A	COL4A5	NM_033380.3(COL4A5):c.679G>A:p.Gly227Ser	coding	Pathogenic
X	108578112	G	A	G108578112A	COL4A5	NM_033380.3(COL4A5):c.680G>A:p.Gly227Asp	coding	Pathogenic
X	108578114	G	T	G108578114T	COL4A5	NM_033380.3(COL4A5):c.682G>T:p.Glu228Ter	coding	Pathogenic
X	108578120	G	A	G108578120A	COL4A5	NM_033380.3(COL4A5):c.687+1G>A	coding	Pathogenic
X	108578121	T	C	T108578121C	COL4A5	NM_033380.3(COL4A5):c.687+2T>C	noncoding	Pathogenic
X	108578288	C	G	C108578288G	COL4A5	NM_033380.3(COL4A5):c.688-3C>G	noncoding	Pathogenic
X	108578291	G	C	G108578291C	COL4A5	NM_033380.3(COL4A5):c.688G>C:p.Gly230Arg	coding	Pathogenic
X	108578292	G	A	G108578292A	COL4A5	NM_033380.3(COL4A5):c.689G>A:p.Gly230Asp	coding	Pathogenic
X	108578301	G	T	G108578301T	COL4A5	NM_033380.3(COL4A5):c.698G>T:p.Gly233Val	coding	Pathogenic
X	108578318	G	A	G108578318A	COL4A5	NM_033380.3(COL4A5):c.715G>A:p.Gly239Arg	coding	Pathogenic
X	108578319	G	A	G108578319A	COL4A5	NM_033380.3(COL4A5):c.716G>A:p.Gly239Glu	coding	Pathogenic
X	108578382	A	G	A108578382G	COL4A5	NM_033380.3(COL4A5):c.779A>G:p.Gln260Arg	coding	Benign
X	108578385	T	G	T108578385G	COL4A5	NM_033380.3(COL4A5):c.780+2T>G	noncoding	Pathogenic
X	108578388	G	A	G108578388A	COL4A5	NM_033380.3(COL4A5):c.780+5G>A	noncoding	Pathogenic
X	108580532	G	A	G108580532A	COL4A5	NM_033380.3(COL4A5):c.781-1G>A	noncoding	Pathogenic
X	108580542	G	C	G108580542C	COL4A5	NM_033380.3(COL4A5):c.790G>C:p.Gly264Arg	coding	Pathogenic
X	108580543	G	A	G108580543A	COL4A5	NM_033380.3(COL4A5):c.791G>A:p.Gly264Asp	coding	Pathogenic
X	108580548	C	T	C108580548T	COL4A5	NM_033380.3(COL4A5):c.796C>T:p.Arg266Ter	coding	Pathogenic
X	108580587	G	A	G108580587A	COL4A5	NM_033380.3(COL4A5):c.834+1G>A	coding	Pathogenic
X	108580588	T	G	T108580588G	COL4A5	NM_033380.3(COL4A5):c.834+2T>G	noncoding	Pathogenic
X	108580591	G	A	G108580591A	COL4A5	NM_033380.3(COL4A5):c.834+5G>A	noncoding	Pathogenic
X	108580591	G	T	G108580591T	COL4A5	NM_033380.3(COL4A5):c.834+5G>T	noncoding	Pathogenic
X	108580594	C	A	C108580594A	COL4A5	NM_033380.3(COL4A5):c.834+8C>A	noncoding	Benign
X	108580706	G	T	G108580706T	COL4A5	NM_033380.3(COL4A5):c.859G>T:p.Glu287Ter	coding	Pathogenic
X	108580713	G	T	G108580713T	COL4A5	NM_033380.3(COL4A5):c.866G>T:p.Gly289Val	coding	Pathogenic
X	108580718	C	T	C108580718T	COL4A5	NM_033380.3(COL4A5):c.871C>T:p.Gln291Ter	coding	Pathogenic
X	108580721	G	C	G108580721C	COL4A5	NM_033380.3(COL4A5):c.874G>C:p.Gly292Arg	coding	Pathogenic
X	108580722	G	T	G108580722T	COL4A5	NM_033380.3(COL4A5):c.875G>T:p.Gly292Val	coding	Pathogenic
X	108580723	A	T	A108580723T	COL4A5	NM_033380.3(COL4A5):c.876A>T:p.Gly292=	coding	Pathogenic
X	108580731	G	A	G108580731A	COL4A5	NM_033380.3(COL4A5):c.884G>A:p.Gly295Asp	coding	Pathogenic
X	108580739	G	A	G108580739A	COL4A5	NM_033380.3(COL4A5):c.891+1G>A	coding	Pathogenic
X	108580981	A	G	A108580981G	COL4A5	NM_033380.3(COL4A5):c.892-2A>G	noncoding	Pathogenic
X	108580982	G	C	G108580982C	COL4A5	NM_033380.3(COL4A5):c.892-1G>C	noncoding	Pathogenic
X	108580983	G	A	G108580983A	COL4A5	NM_033380.3(COL4A5):c.892G>A:p.Gly298Ser	coding	Pathogenic
X	108580984	G	A	G108580984A	COL4A5	NM_033380.3(COL4A5):c.893G>A:p.Gly298Asp	coding	Pathogenic
X	108581000	T	C	T108581000C	COL4A5	NM_033380.3(COL4A5):c.909T>C:p.Asp303=	coding	Benign
X	108581004	G	T	G108581004T	COL4A5	NM_033380.3(COL4A5):c.913G>T:p.Glu305Ter	coding	Pathogenic
X	108581019	G	A	G108581019A	COL4A5	NM_033380.3(COL4A5):c.928G>A:p.Gly310Arg	coding	Pathogenic
X	108581020	G	A	G108581020A	COL4A5	NM_033380.3(COL4A5):c.929G>A:p.Gly310Glu	coding	Pathogenic
X	108581028	G	A	G108581028A	COL4A5	NM_033380.3(COL4A5):c.936+1G>A	coding	Pathogenic
X	108582883	G	A	G108582883A	COL4A5	NM_033380.3(COL4A5):c.937-1G>A	noncoding	Pathogenic
X	108582884	G	A	G108582884A	COL4A5	NM_033380.3(COL4A5):c.937G>A:p.Gly313Ser	coding	Pathogenic
X	108582894	G	A	G108582894A	COL4A5	NM_033380.3(COL4A5):c.947G>A:p.Gly316Asp	coding	Pathogenic
X	108582902	G	C	G108582902C	COL4A5	NM_033380.3(COL4A5):c.955G>C:p.Gly319Arg	coding	Pathogenic
X	108582907	C	A	C108582907A	COL4A5	NM_033380.3(COL4A5):c.960C>A:p.Tyr320Ter	coding	Pathogenic
X	108582912	G	A	G108582912A	COL4A5	NM_033380.3(COL4A5):c.965G>A:p.Gly322Asp	coding	Pathogenic
X	108582912	G	T	G108582912T	COL4A5	NM_033380.3(COL4A5):c.965G>T:p.Gly322Val	coding	Pathogenic
X	108582917	C	T	C108582917T	COL4A5	NM_033380.3(COL4A5):c.970C>T:p.Pro324Ser	coding	Benign
X	108582920	G	A	G108582920A	COL4A5	NM_033380.3(COL4A5):c.973G>A:p.Gly325Arg	coding	Pathogenic
X	108582920	G	C	G108582920C	COL4A5	NM_033380.3(COL4A5):c.973G>C:p.Gly325Arg	coding	Pathogenic
X	108582920	G	T	G108582920T	COL4A5	NM_033380.3(COL4A5):c.973G>T:p.Gly325Ter	coding	Pathogenic
X	108582921	G	A	G108582921A	COL4A5	NM_033380.3(COL4A5):c.974G>A:p.Gly325Glu	coding	Pathogenic
X	108582938	G	T	G108582938T	COL4A5	NM_000495.5(COL4A5):c.990+1G>T	coding	Pathogenic
X	108584483	G	A	G108584483A	COL4A5	NM_033380.3(COL4A5):c.991-1G>A	noncoding	Pathogenic
X	108584485	G	T	G108584485T	COL4A5	NM_033380.3(COL4A5):c.992G>T:p.Gly331Val	coding	Pathogenic
X	108584493	G	A	G108584493A	COL4A5	NM_033380.3(COL4A5):c.1000G>A:p.Gly334Ser	coding	Pathogenic
X	108584494	G	T	G108584494T	COL4A5	NM_033380.3(COL4A5):c.1001G>T:p.Gly334Val	coding	Pathogenic
X	108584502	G	A	G108584502A	COL4A5	NM_033380.3(COL4A5):c.1009G>A:p.Gly337Ser	coding	Pathogenic
X	108584503	G	T	G108584503T	COL4A5	NM_033380.3(COL4A5):c.1010G>T:p.Gly337Val	coding	Pathogenic
X	108584526	G	C	G108584526C	COL4A5	NM_000495.5(COL4A5):c.1032+1G>C	coding	Pathogenic
X	108586614	G	A	G108586614A	COL4A5	NM_033380.3(COL4A5):c.1033-1G>A	noncoding	Pathogenic
X	108586657	G	A	G108586657A	COL4A5	NM_033380.3(COL4A5):c.1075G>A:p.Gly359Arg	coding	Pathogenic
X	108586666	G	A	G108586666A	COL4A5	NM_033380.3(COL4A5):c.1084G>A:p.Gly362Arg	coding	Pathogenic
X	108586676	G	A	G108586676A	COL4A5	NM_033380.3(COL4A5):c.1094G>A:p.Gly365Glu	coding	Pathogenic
X	108586677	G	C	G108586677C	COL4A5	NM_033380.3(COL4A5):c.1095G>C:p.Gly365=	coding	Benign
X	108586694	G	A	G108586694A	COL4A5	NM_033380.3(COL4A5):c.1112G>A:p.Gly371Glu	coding	Pathogenic
X	108586699	C	T	C108586699T	COL4A5	NM_033380.3(COL4A5):c.1117C>T:p.Arg373Ter	coding	Pathogenic
X	108586703	G	C	G108586703C	COL4A5	NM_033380.3(COL4A5):c.1121G>C:p.Gly374Ala	coding	Pathogenic
X	108586717	C	T	C108586717T	COL4A5	NM_033380.3(COL4A5):c.1135C>T:p.Gln379Ter	coding	Pathogenic
X	108586721	G	A	G108586721A	COL4A5	NM_033380.3(COL4A5):c.1139G>A:p.Gly380Asp	coding	Pathogenic
X	108586729	G	C	G108586729C	COL4A5	NM_033380.3(COL4A5):c.1147G>C:p.Gly383Arg	coding	Pathogenic
X	108586730	G	A	G108586730A	COL4A5	NM_033380.3(COL4A5):c.1148G>A:p.Gly383Asp	coding	Pathogenic
X	108586747	G	A	G108586747A	COL4A5	NM_033380.3(COL4A5):c.1165G>A:p.Gly389Arg	coding	Pathogenic
X	108586748	G	A	G108586748A	COL4A5	NM_033380.3(COL4A5):c.1165+1G>A	coding	Pathogenic
X	108586749	T	G	T108586749G	COL4A5	NM_033380.3(COL4A5):c.1165+2T>G	noncoding	Pathogenic
X	108591057	G	A	G108591057A	COL4A5	NM_033380.3(COL4A5):c.1166-1G>A	noncoding	Pathogenic
X	108591079	C	T	C108591079T	COL4A5	NM_033380.3(COL4A5):c.1187C>T:p.Pro396Leu	coding	Benign
X	108591083	C	G	C108591083G	COL4A5	NM_033380.3(COL4A5):c.1191C>G:p.Gly397=	coding	Benign
X	108591091	G	A	G108591091A	COL4A5	NM_033380.3(COL4A5):c.1199G>A:p.Gly400Glu	coding	Pathogenic
X	108591100	G	T	G108591100T	COL4A5	NM_033380.3(COL4A5):c.1208G>T:p.Gly403Val	coding	Pathogenic
X	108591108	G	A	G108591108A	COL4A5	NM_033380.3(COL4A5):c.1216G>A:p.Gly406Ser	coding	Pathogenic
X	108591109	G	T	G108591109T	COL4A5	NM_033380.3(COL4A5):c.1217G>T:p.Gly406Val	coding	Pathogenic
X	108591111	C	T	C108591111T	COL4A5	NM_033380.3(COL4A5):c.1219C>T:p.Gln407Ter	coding	Pathogenic
X	108591114	A	T	A108591114T	COL4A5	NM_033380.3(COL4A5):c.1222A>T:p.Lys408Ter	coding	Pathogenic
X	108591118	G	A	G108591118A	COL4A5	NM_033380.3(COL4A5):c.1226G>A:p.Gly409Asp	coding	Pathogenic
X	108591127	G	T	G108591127T	COL4A5	NM_033380.3(COL4A5):c.1235G>T:p.Gly412Val	coding	Pathogenic
X	108591135	G	A	G108591135A	COL4A5	NM_033380.3(COL4A5):c.1243G>A:p.Gly415Arg	coding	Pathogenic
X	108591150	G	A	G108591150A	COL4A5	NM_000495.5(COL4A5):c.1258G>A:p.Gly420Arg	coding	Pathogenic
X	108591151	G	A	G108591151A	COL4A5	NM_033380.3(COL4A5):c.1259G>A:p.Gly420Glu	coding	Pathogenic
X	108591151	G	T	G108591151T	COL4A5	NM_033380.3(COL4A5):c.1259G>T:p.Gly420Val	coding	Pathogenic
X	108591160	G	A	G108591160A	COL4A5	NM_033380.3(COL4A5):c.1268G>A:p.Gly423Glu	coding	Pathogenic
X	108591167	C	T	C108591167T	COL4A5	NM_033380.3(COL4A5):c.1275C>T:p.Asp425=	coding	Benign
X	108591168	G	A	G108591168A	COL4A5	NM_033380.3(COL4A5):c.1276G>A:p.Gly426Arg	coding	Pathogenic/Likely_pathogenic
X	108591168	G	T	G108591168T	COL4A5	NM_033380.3(COL4A5):c.1276G>T:p.Gly426Ter	coding	Pathogenic
X	108591178	G	A	G108591178A	COL4A5	NM_033380.3(COL4A5):c.1286G>A:p.Gly429Glu	coding	Pathogenic
X	108591181	C	A	C108591181A	COL4A5	NM_033380.3(COL4A5):c.1289C>A:p.Ala430Asp	coding	Benign/Likely_benign
X	108591186	G	A	G108591186A	COL4A5	NM_033380.3(COL4A5):c.1294G>A:p.Gly432Arg	coding	Pathogenic
X	108591223	T	G	T108591223G	COL4A5	NM_033380.3(COL4A5):c.1331T>G:p.Ile444Ser	coding	Benign
X	108591232	G	A	G108591232A	COL4A5	NM_000495.5(COL4A5):c.1339+1G>A	coding	Pathogenic
X	108591237	C	G	C108591237G	COL4A5	NM_033380.3(COL4A5):c.1339+6C>G	noncoding	Pathogenic
X	108591559	A	G	A108591559G	COL4A5	NM_033380.3(COL4A5):c.1340-2A>G	noncoding	Pathogenic
X	108591571	A	G	A108591571G	COL4A5	NM_033380.3(COL4A5):c.1350A>G:p.Ile450Met	coding	Benign
X	108591623	C	T	C108591623T	COL4A5	NM_033380.3(COL4A5):c.1402C>T:p.Gln468Ter	coding	Pathogenic
X	108591627	G	A	G108591627A	COL4A5	NM_033380.3(COL4A5):c.1406G>A:p.Gly469Glu	coding	Pathogenic
X	108591635	G	A	G108591635A	COL4A5	NM_033380.3(COL4A5):c.1414G>A:p.Gly472Arg	coding	Pathogenic
X	108591644	G	A	G108591644A	COL4A5	NM_033380.3(COL4A5):c.1423G>A:p.Gly475Ser	coding	Pathogenic
X	108591645	G	A	G108591645A	COL4A5	NM_033380.3(COL4A5):c.1423+1G>A	coding	Pathogenic
X	108595489	T	A	T108595489A	COL4A5	NM_033380.3(COL4A5):c.1424-20T>A	noncoding	Pathogenic
X	108595507	A	C	A108595507C	COL4A5	NM_033380.3(COL4A5):c.1424-2A>C	noncoding	Pathogenic
X	108595508	G	A	G108595508A	COL4A5	NM_033380.3(COL4A5):c.1424-1G>A	noncoding	Pathogenic
X	108595557	G	A	G108595557A	COL4A5	NM_033380.3(COL4A5):c.1472G>A:p.Gly491Glu	coding	Pathogenic
X	108595566	G	A	G108595566A	COL4A5	NM_033380.3(COL4A5):c.1481G>A:p.Gly494Asp	coding	Pathogenic
X	108595574	G	T	G108595574T	COL4A5	NM_033380.3(COL4A5):c.1489G>T:p.Gly497Cys	coding	Pathogenic
X	108595583	G	C	G108595583C	COL4A5	NM_033380.3(COL4A5):c.1498G>C:p.Gly500Arg	coding	Pathogenic
X	108595602	G	A	G108595602A	COL4A5	NM_033380.3(COL4A5):c.1516+1G>A	coding	Pathogenic
X	108596997	G	A	G108596997A	COL4A5	NM_033380.3(COL4A5):c.1517-1G>A	noncoding	Pathogenic
X	108596997	G	C	G108596997C	COL4A5	NM_033380.3(COL4A5):c.1517-1G>C	noncoding	Pathogenic
X	108596997	G	T	G108596997T	COL4A5	NM_033380.3(COL4A5):c.1517-1G>T	noncoding	Pathogenic
X	108597007	G	A	G108597007A	COL4A5	NM_033380.3(COL4A5):c.1526G>A:p.Gly509Asp	coding	Pathogenic
X	108597042	G	T	G108597042T	COL4A5	NM_033380.3(COL4A5):c.1561G>T:p.Gly521Cys	coding	Pathogenic
X	108597043	G	A	G108597043A	COL4A5	NM_033380.3(COL4A5):c.1562G>A:p.Gly521Asp	coding	Pathogenic
X	108597051	G	T	G108597051T	COL4A5	NM_000495.5(COL4A5):c.1570G>T:p.Gly524Cys	coding	Pathogenic
X	108597052	G	A	G108597052A	COL4A5	NM_033380.3(COL4A5):c.1571G>A:p.Gly524Asp	coding	Pathogenic
X	108597060	G	A	G108597060A	COL4A5	NM_033380.3(COL4A5):c.1579G>A:p.Gly527Arg	coding	Pathogenic
X	108597069	G	A	G108597069A	COL4A5	NM_033380.3(COL4A5):c.1587+1G>A	coding	Pathogenic
X	108597364	T	G	T108597364G	COL4A5	NM_033380.3(COL4A5):c.1588-13T>G	noncoding	Benign
X	108597378	G	A	G108597378A	COL4A5	NM_033380.3(COL4A5):c.1589G>A:p.Gly530Asp	coding	Pathogenic
X	108597387	G	A	G108597387A	COL4A5	NM_033380.3(COL4A5):c.1598G>A:p.Gly533Glu	coding	Pathogenic
X	108597396	G	A	G108597396A	COL4A5	NM_033380.3(COL4A5):c.1607G>A:p.Gly536Asp	coding	Pathogenic/Likely_pathogenic
X	108597422	G	C	G108597422C	COL4A5	NM_033380.3(COL4A5):c.1633G>C:p.Gly545Arg	coding	Pathogenic
X	108597423	G	T	G108597423T	COL4A5	NM_033380.3(COL4A5):c.1634G>T:p.Gly545Val	coding	Pathogenic
X	108597461	G	C	G108597461C	COL4A5	NM_033380.3(COL4A5):c.1672G>C:p.Gly558Arg	coding	Pathogenic
X	108597462	G	A	G108597462A	COL4A5	NM_033380.3(COL4A5):c.1673G>A:p.Gly558Asp	coding	Pathogenic
X	108597470	G	A	G108597470A	COL4A5	NM_033380.3(COL4A5):c.1681G>A:p.Gly561Arg	coding	Pathogenic
X	108597479	G	T	G108597479T	COL4A5	NM_033380.3(COL4A5):c.1690G>T:p.Gly564Cys	coding	Pathogenic
X	108597489	G	C	G108597489C	COL4A5	NM_033380.3(COL4A5):c.1700G>C:p.Gly567Ala	coding	Pathogenic
X	108597507	G	A	G108597507A	COL4A5	NM_033380.3(COL4A5):c.1718G>A:p.Gly573Asp	coding	Pathogenic
X	108597515	G	A	G108597515A	COL4A5	NM_033380.3(COL4A5):c.1726G>A:p.Gly576Ser	coding	Pathogenic
X	108597524	G	A	G108597524A	COL4A5	NM_033380.3(COL4A5):c.1735G>A:p.Gly579Arg	coding	Pathogenic
X	108597525	G	A	G108597525A	COL4A5	NM_033380.3(COL4A5):c.1736G>A:p.Gly579Glu	coding	Pathogenic
X	108597527	C	T	C108597527T	COL4A5	NM_033380.3(COL4A5):c.1738C>T:p.Gln580Ter	coding	Pathogenic
X	108597533	G	A	G108597533A	COL4A5	NM_033380.3(COL4A5):c.1744G>A:p.Gly582Arg	coding	Pathogenic
X	108597569	G	A	G108597569A	COL4A5	NM_033380.3(COL4A5):c.1779+1G>A	coding	Pathogenic/Likely_pathogenic
X	108597569	G	T	G108597569T	COL4A5	NM_033380.3(COL4A5):c.1779+1G>T	coding	Pathogenic
X	108597571	G	C	G108597571C	COL4A5	NM_033380.3(COL4A5):c.1779+3G>C	noncoding	Pathogenic
X	108598696	T	G	T108598696G	COL4A5	NM_033380.3(COL4A5):c.1780-6T>G	noncoding	Pathogenic
X	108598701	G	A	G108598701A	COL4A5	NM_033380.3(COL4A5):c.1780-1G>A	noncoding	Pathogenic
X	108598701	G	T	G108598701T	COL4A5	NM_033380.3(COL4A5):c.1780-1G>T	noncoding	Pathogenic
X	108598702	G	A	G108598702A	COL4A5	NM_033380.3(COL4A5):c.1780G>A:p.Gly594Ser	coding	Pathogenic
X	108598703	G	A	G108598703A	COL4A5	NM_033380.3(COL4A5):c.1781G>A:p.Gly594Asp	coding	Pathogenic
X	108598705	G	A	G108598705A	COL4A5	NM_033380.3(COL4A5):c.1783G>A:p.Gly595Arg	coding	Pathogenic
X	108598721	G	A	G108598721A	COL4A5	NM_033380.3(COL4A5):c.1799G>A:p.Gly600Asp	coding	Pathogenic
X	108598729	G	A	G108598729A	COL4A5	NM_033380.3(COL4A5):c.1807G>A:p.Gly603Ser	coding	Pathogenic
X	108598730	G	T	G108598730T	COL4A5	NM_033380.3(COL4A5):c.1808G>T:p.Gly603Val	coding	Pathogenic
X	108598747	G	C	G108598747C	COL4A5	NM_033380.3(COL4A5):c.1825G>C:p.Gly609Arg	coding	Pathogenic
X	108598748	G	A	G108598748A	COL4A5	NM_033380.3(COL4A5):c.1826G>A:p.Gly609Asp	coding	Pathogenic
X	108598748	G	T	G108598748T	COL4A5	NM_033380.3(COL4A5):c.1826G>T:p.Gly609Val	coding	Pathogenic
X	108598757	G	A	G108598757A	COL4A5	NM_033380.3(COL4A5):c.1835G>A:p.Gly612Asp	coding	Pathogenic
X	108598765	G	A	G108598765A	COL4A5	NM_033380.3(COL4A5):c.1843G>A:p.Gly615Arg	coding	Pathogenic
X	108598765	G	C	G108598765C	COL4A5	NM_033380.3(COL4A5):c.1843G>C:p.Gly615Arg	coding	Pathogenic
X	108598766	G	A	G108598766A	COL4A5	NM_033380.3(COL4A5):c.1844G>A:p.Gly615Glu	coding	Pathogenic
X	108598778	C	T	C108598778T	COL4A5	NM_033380.3(COL4A5):c.1856C>T:p.Pro619Leu	coding	Pathogenic
X	108598783	G	T	G108598783T	COL4A5	NM_033380.3(COL4A5):c.1861G>T:p.Gly621Cys	coding	Pathogenic
X	108598784	G	T	G108598784T	COL4A5	NM_033380.3(COL4A5):c.1862G>T:p.Gly621Val	coding	Pathogenic
X	108598793	G	A	G108598793A	COL4A5	NM_033380.3(COL4A5):c.1871G>A:p.Gly624Asp	coding	Pathogenic/Likely_pathogenic
X	108598799	G	C	G108598799C	COL4A5	NM_033380.3(COL4A5):c.1877G>C:p.Gly626Ala	coding	Pathogenic
X	108598805	C	T	C108598805T	COL4A5	NM_033380.3(COL4A5):c.1883C>T:p.Pro628Leu	coding	Pathogenic
X	108598808	G	A	G108598808A	COL4A5	NM_033380.3(COL4A5):c.1886G>A:p.Gly629Asp	coding	Pathogenic
X	108598816	G	C	G108598816C	COL4A5	NM_033380.3(COL4A5):c.1894G>C:p.Gly632Arg	coding	Pathogenic
X	108598817	G	A	G108598817A	COL4A5	NM_033380.3(COL4A5):c.1895G>A:p.Gly632Asp	coding	Pathogenic
X	108598819	G	A	G108598819A	COL4A5	NM_033380.3(COL4A5):c.1897G>A:p.Glu633Lys	coding	Pathogenic
X	108598826	G	A	G108598826A	COL4A5	NM_033380.3(COL4A5):c.1904G>A:p.Gly635Asp	coding	Pathogenic
X	108598826	G	T	G108598826T	COL4A5	NM_033380.3(COL4A5):c.1904G>T:p.Gly635Val	coding	Pathogenic
X	108598834	G	A	G108598834A	COL4A5	NM_033380.3(COL4A5):c.1912G>A:p.Gly638Ser	coding	Pathogenic
X	108598835	G	A	G108598835A	COL4A5	NM_033380.3(COL4A5):c.1913G>A:p.Gly638Asp	coding	Pathogenic
X	108598835	G	C	G108598835C	COL4A5	NM_033380.3(COL4A5):c.1913G>C:p.Gly638Ala	coding	Pathogenic
X	108598835	G	T	G108598835T	COL4A5	NM_033380.3(COL4A5):c.1913G>T:p.Gly638Val	coding	Pathogenic
X	108598844	G	A	G108598844A	COL4A5	NM_033380.3(COL4A5):c.1922G>A:p.Gly641Glu	coding	Pathogenic
X	108598853	G	A	G108598853A	COL4A5	NM_033380.3(COL4A5):c.1931G>A:p.Gly644Asp	coding	Pathogenic
X	108598855	C	T	C108598855T	COL4A5	NM_033380.3(COL4A5):c.1933C>T:p.Gln645Ter	coding	Pathogenic
X	108598870	G	A	G108598870A	COL4A5	NM_033380.3(COL4A5):c.1948G>A:p.Gly650Ser	coding	Pathogenic
X	108598871	G	A	G108598871A	COL4A5	NM_033380.3(COL4A5):c.1948+1G>A	coding	Pathogenic
X	108599764	C	G	C108599764G	COL4A5	NM_033380.3(COL4A5):c.1948+894C>G	noncoding	Pathogenic
X	108601391	A	G	A108601391G	COL4A5	NM_033380.3(COL4A5):c.1949-2A>G	noncoding	Pathogenic
X	108601391	A	T	A108601391T	COL4A5	NM_033380.3(COL4A5):c.1949-2A>T	noncoding	Pathogenic
X	108601401	G	A	G108601401A	COL4A5	NM_033380.3(COL4A5):c.1957G>A:p.Gly653Arg	coding	Pathogenic
X	108601436	G	T	G108601436T	COL4A5	NM_033380.3(COL4A5):c.1992G>T:p.Lys664Asn	coding	Benign
X	108601449	G	C	G108601449C	COL4A5	NM_033380.3(COL4A5):c.2005G>C:p.Gly669Arg	coding	Pathogenic
X	108601450	G	C	G108601450C	COL4A5	NM_033380.3(COL4A5):c.2006G>C:p.Gly669Ala	coding	Pathogenic
X	108601458	G	C	G108601458C	COL4A5	NM_033380.3(COL4A5):c.2014G>C:p.Gly672Arg	coding	Pathogenic
X	108601461	A	G	A108601461G	COL4A5	NM_033380.3(COL4A5):c.2017A>G:p.Arg673Gly	coding	Benign
X	108601467	G	A	G108601467A	COL4A5	NM_033380.3(COL4A5):c.2023G>A:p.Gly675Ser	coding	Pathogenic
X	108601485	G	A	G108601485A	COL4A5	NM_033380.3(COL4A5):c.2041G>A:p.Gly681Ser	coding	Pathogenic
X	108601486	G	T	G108601486T	COL4A5	NM_033380.3(COL4A5):c.2041+1G>T	coding	Pathogenic
X	108601867	A	G	A108601867G	COL4A5	NM_033380.3(COL4A5):c.2042-18A>G	noncoding	Pathogenic
X	108601885	G	A	G108601885A	COL4A5	NM_033380.3(COL4A5):c.2042G>A:p.Gly681Asp	coding	Pathogenic
X	108601893	G	T	G108601893T	COL4A5	NM_033380.3(COL4A5):c.2050G>T:p.Gly684Ter	coding	Pathogenic
X	108601894	G	T	G108601894T	COL4A5	NM_033380.3(COL4A5):c.2051G>T:p.Gly684Val	coding	Pathogenic
X	108601898	T	C	T108601898C	COL4A5	NM_033380.3(COL4A5):c.2055T>C:p.Leu685=	coding	Benign
X	108601903	G	A	G108601903A	COL4A5	NM_033380.3(COL4A5):c.2060G>A:p.Gly687Glu	coding	Pathogenic
X	108601920	G	A	G108601920A	COL4A5	NM_033380.3(COL4A5):c.2077G>A:p.Gly693Arg	coding	Pathogenic
X	108601938	G	A	G108601938A	COL4A5	NM_033380.3(COL4A5):c.2095G>A:p.Gly699Arg	coding	Pathogenic
X	108601938	G	T	G108601938T	COL4A5	NM_000495.5(COL4A5):c.2095G>T:p.Gly699Ter	coding	Pathogenic
X	108601941	G	T	G108601941T	COL4A5	NM_033380.3(COL4A5):c.2098G>T:p.Glu700Ter	coding	Pathogenic
X	108601950	A	G	A108601950G	COL4A5	NM_033380.3(COL4A5):c.2107A>G:p.Ile703Val	coding	Benign
X	108601989	G	C	G108601989C	COL4A5	NM_033380.3(COL4A5):c.2146G>C:p.Gly716Arg	coding	Pathogenic
X	108601992	A	C	A108601992C	COL4A5	NM_033380.3(COL4A5):c.2146+3A>C	noncoding	Pathogenic
X	108602961	C	G	C108602961G	COL4A5	NM_033380.3(COL4A5):c.2147-3C>G	noncoding	Pathogenic
X	108602962	A	G	A108602962G	COL4A5	NM_033380.3(COL4A5):c.2147-2A>G	noncoding	Pathogenic
X	108602972	G	C	G108602972C	COL4A5	NM_033380.3(COL4A5):c.2155G>C:p.Gly719Arg	coding	Pathogenic
X	108602973	G	T	G108602973T	COL4A5	NM_033380.3(COL4A5):c.2156G>T:p.Gly719Val	coding	Pathogenic
X	108602981	G	C	G108602981C	COL4A5	NM_033380.3(COL4A5):c.2164G>C:p.Gly722Arg	coding	Pathogenic
X	108602982	G	A	G108602982A	COL4A5	NM_000495.5(COL4A5):c.2165G>A:p.Gly722Glu	coding	Pathogenic
X	108603032	C	T	C108603032T	COL4A5	NM_033380.3(COL4A5):c.2215C>T:p.Pro739Ser	coding	Pathogenic
X	108603036	G	A	G108603036A	COL4A5	NM_033380.3(COL4A5):c.2219G>A:p.Gly740Glu	coding	Pathogenic
X	108603045	G	A	G108603045A	COL4A5	NM_033380.3(COL4A5):c.2228G>A:p.Gly743Asp	coding	Pathogenic
X	108603054	G	A	G108603054A	COL4A5	NM_033380.3(COL4A5):c.2237G>A:p.Gly746Glu	coding	Pathogenic
X	108603062	G	T	G108603062T	COL4A5	NM_033380.3(COL4A5):c.2244+1G>T	coding	Pathogenic
X	108603063	T	G	T108603063G	COL4A5	NM_033380.3(COL4A5):c.2244+2T>G	noncoding	Pathogenic
X	108606702	A	G	A108606702G	COL4A5	NM_033380.3(COL4A5):c.2245-40A>G	noncoding	Pathogenic
X	108606741	G	A	G108606741A	COL4A5	NM_033380.3(COL4A5):c.2245-1G>A	noncoding	Pathogenic
X	108606761	T	G	T108606761G	COL4A5	NM_033380.3(COL4A5):c.2264T>G:p.Leu755Ter	coding	Pathogenic
X	108606784	G	A	G108606784A	COL4A5	NM_033380.3(COL4A5):c.2287G>A:p.Gly763Arg	coding	Pathogenic
X	108606785	G	A	G108606785A	COL4A5	NM_000495.5(COL4A5):c.2288G>A:p.Gly763Glu	coding	Pathogenic
X	108606785	G	T	G108606785T	COL4A5	NM_033380.3(COL4A5):c.2288G>T:p.Gly763Val	coding	Pathogenic
X	108606794	G	A	G108606794A	COL4A5	NM_033380.3(COL4A5):c.2297G>A:p.Gly766Asp	coding	Pathogenic
X	108606794	G	T	G108606794T	COL4A5	NM_033380.3(COL4A5):c.2297G>T:p.Gly766Val	coding	Pathogenic
X	108606802	G	A	G108606802A	COL4A5	NM_033380.3(COL4A5):c.2305G>A:p.Gly769Arg	coding	Pathogenic
X	108606803	G	T	G108606803T	COL4A5	NM_033380.3(COL4A5):c.2306G>T:p.Gly769Val	coding	Pathogenic
X	108606811	G	A	G108606811A	COL4A5	NM_033380.3(COL4A5):c.2314G>A:p.Gly772Ser	coding	Pathogenic
X	108606812	G	A	G108606812A	COL4A5	NM_033380.3(COL4A5):c.2315G>A:p.Gly772Asp	coding	Pathogenic
X	108606812	G	C	G108606812C	COL4A5	NM_033380.3(COL4A5):c.2315G>C:p.Gly772Ala	coding	Pathogenic
X	108606812	G	T	G108606812T	COL4A5	NM_033380.3(COL4A5):c.2315G>T:p.Gly772Val	coding	Pathogenic/Likely_pathogenic
X	108606827	G	A	G108606827A	COL4A5	NM_033380.3(COL4A5):c.2330G>A:p.Arg777His	coding	Benign
X	108606830	G	A	G108606830A	COL4A5	NM_033380.3(COL4A5):c.2333G>A:p.Gly778Asp	coding	Pathogenic
X	108606846	G	A	G108606846A	COL4A5	NM_033380.3(COL4A5):c.2349G>A:p.Pro783=	coding	Benign
X	108606856	G	A	G108606856A	COL4A5	NM_033380.3(COL4A5):c.2359G>A:p.Gly787Arg	coding	Pathogenic
X	108606857	G	T	G108606857T	COL4A5	NM_033380.3(COL4A5):c.2360G>T:p.Gly787Val	coding	Pathogenic
X	108606860	G	A	G108606860A	COL4A5	NM_033380.3(COL4A5):c.2363G>A:p.Arg788His	coding	Benign
X	108606883	G	A	G108606883A	COL4A5	NM_033380.3(COL4A5):c.2386G>A:p.Gly796Arg	coding	Pathogenic
X	108606883	G	C	G108606883C	COL4A5	NM_033380.3(COL4A5):c.2386G>C:p.Gly796Arg	coding	Pathogenic
X	108606884	G	T	G108606884T	COL4A5	NM_033380.3(COL4A5):c.2387G>T:p.Gly796Val	coding	Pathogenic
X	108606891	A	G	A108606891G	COL4A5	NM_033380.3(COL4A5):c.2394A>G:p.Lys798=	coding	Pathogenic
X	108606893	G	A	G108606893A	COL4A5	NM_033380.3(COL4A5):c.2395+1G>A	coding	Pathogenic
X	108606893	G	C	G108606893C	COL4A5	NM_000495.5(COL4A5):c.2395+1G>C	coding	Pathogenic
X	108606894	T	A	T108606894A	COL4A5	NM_033380.3(COL4A5):c.2395+2T>A	noncoding	Pathogenic
X	108609642	A	G	A108609642G	COL4A5	NM_033380.3(COL4A5):c.2395+2750A>G	noncoding	Pathogenic
X	108614910	G	A	G108614910A	COL4A5	NM_033380.3(COL4A5):c.2396-1G>A	noncoding	Pathogenic
X	108614910	G	T	G108614910T	COL4A5	NM_000495.5(COL4A5):c.2396-1G>T	noncoding	Pathogenic
X	108614919	G	A	G108614919A	COL4A5	NM_033380.3(COL4A5):c.2404G>A:p.Gly802Arg	coding	Pathogenic
X	108614929	G	A	G108614929A	COL4A5	NM_000495.5(COL4A5):c.2414G>A:p.Gly805Glu	coding	Pathogenic
X	108614938	G	A	G108614938A	COL4A5	NM_033380.3(COL4A5):c.2423G>A:p.Gly808Glu	coding	Pathogenic
X	108614946	G	A	G108614946A	COL4A5	NM_033380.3(COL4A5):c.2431G>A:p.Gly811Arg	coding	Pathogenic
X	108614947	G	T	G108614947T	COL4A5	NM_033380.3(COL4A5):c.2432G>T:p.Gly811Val	coding	Pathogenic
X	108614979	G	C	G108614979C	COL4A5	NM_033380.3(COL4A5):c.2464G>C:p.Gly822Arg	coding	Pathogenic
X	108614988	G	T	G108614988T	COL4A5	NM_033380.3(COL4A5):c.2473G>T:p.Gly825Ter	coding	Pathogenic
X	108614997	G	A	G108614997A	COL4A5	NM_033380.3(COL4A5):c.2482G>A:p.Gly828Arg	coding	Pathogenic
X	108614998	G	A	G108614998A	COL4A5	NM_033380.3(COL4A5):c.2483G>A:p.Gly828Glu	coding	Pathogenic
X	108615015	G	C	G108615015C	COL4A5	NM_033380.3(COL4A5):c.2500G>C:p.Gly834Arg	coding	Pathogenic
X	108615024	G	A	G108615024A	COL4A5	NM_033380.3(COL4A5):c.2509G>A:p.Gly837Ser	coding	Pathogenic
X	108615025	G	A	G108615025A	COL4A5	NM_000495.5(COL4A5):c.2509+1G>A	coding	Pathogenic
X	108615026	T	G	T108615026G	COL4A5	NM_033380.3(COL4A5):c.2509+2T>G	noncoding	Pathogenic
X	108620257	A	G	A108620257G	COL4A5	NM_000495.5(COL4A5):c.2510-2A>G	noncoding	Pathogenic
X	108620258	G	T	G108620258T	COL4A5	NM_033380.3(COL4A5):c.2510-1G>T	noncoding	Pathogenic
X	108620262	T	G	T108620262G	COL4A5	NM_033380.3(COL4A5):c.2513T>G:p.Leu838Ter	coding	Pathogenic
X	108620295	G	A	G108620295A	COL4A5	NM_033380.3(COL4A5):c.2546G>A:p.Gly849Glu	coding	Pathogenic
X	108620303	G	A	G108620303A	COL4A5	NM_033380.3(COL4A5):c.2554G>A:p.Gly852Arg	coding	Pathogenic
X	108620304	G	A	G108620304A	COL4A5	NM_033380.3(COL4A5):c.2555G>A:p.Gly852Glu	coding	Pathogenic
X	108620320	A	G	A108620320G	COL4A5	NM_033380.3(COL4A5):c.2571A>G:p.Gly857=	coding	Benign
X	108620327	G	C	G108620327C	COL4A5	NM_033380.3(COL4A5):c.2578G>C:p.Gly860Arg	coding	Pathogenic
X	108620346	G	A	G108620346A	COL4A5	NM_033380.3(COL4A5):c.2597G>A:p.Gly866Glu	coding	Pathogenic
X	108620354	G	A	G108620354A	COL4A5	NM_033380.3(COL4A5):c.2605G>A:p.Gly869Arg	coding	Pathogenic/Likely_pathogenic
X	108620355	G	T	G108620355T	COL4A5	NM_033380.3(COL4A5):c.2606G>T:p.Gly869Val	coding	Pathogenic
X	108620363	G	C	G108620363C	COL4A5	NM_033380.3(COL4A5):c.2614G>C:p.Gly872Arg	coding	Pathogenic
X	108620372	G	C	G108620372C	COL4A5	NM_033380.3(COL4A5):c.2623G>C:p.Gly875Arg	coding	Pathogenic
X	108620373	G	A	G108620373A	COL4A5	NM_033380.3(COL4A5):c.2624G>A:p.Gly875Glu	coding	Pathogenic
X	108620381	G	T	G108620381T	COL4A5	NM_033380.3(COL4A5):c.2632G>T:p.Gly878Ter	coding	Pathogenic
X	108620382	G	A	G108620382A	COL4A5	NM_033380.3(COL4A5):c.2633G>A:p.Gly878Glu	coding	Pathogenic
X	108620382	G	T	G108620382T	COL4A5	NM_033380.3(COL4A5):c.2633G>T:p.Gly878Val	coding	Pathogenic
X	108620408	G	C	G108620408C	COL4A5	NM_033380.3(COL4A5):c.2659G>C:p.Gly887Arg	coding	Pathogenic
X	108620409	G	T	G108620409T	COL4A5	NM_033380.3(COL4A5):c.2660G>T:p.Gly887Val	coding	Pathogenic
X	108620426	G	A	G108620426A	COL4A5	NM_033380.3(COL4A5):c.2677G>A:p.Gly893Ser	coding	Pathogenic
X	108620426	G	C	G108620426C	COL4A5	NM_033380.3(COL4A5):c.2677G>C:p.Gly893Arg	coding	Pathogenic
X	108621793	T	G	T108621793G	COL4A5	NM_033380.3(COL4A5):c.2678-10T>G	noncoding	Pathogenic
X	108621803	G	T	G108621803T	COL4A5	NM_033380.3(COL4A5):c.2678G>T:p.Gly893Val	coding	Pathogenic
X	108621821	G	A	G108621821A	COL4A5	NM_033380.3(COL4A5):c.2696G>A:p.Gly899Asp	coding	Pathogenic/Likely_pathogenic
X	108621821	G	T	G108621821T	COL4A5	NM_033380.3(COL4A5):c.2696G>T:p.Gly899Val	coding	Pathogenic
X	108621830	G	A	G108621830A	COL4A5	NM_033380.3(COL4A5):c.2705G>A:p.Gly902Glu	coding	Pathogenic
X	108621830	G	T	G108621830T	COL4A5	NM_033380.3(COL4A5):c.2705G>T:p.Gly902Val	coding	Pathogenic
X	108621839	G	A	G108621839A	COL4A5	NM_033380.3(COL4A5):c.2714G>A:p.Gly905Asp	coding	Pathogenic
X	108621847	G	T	G108621847T	COL4A5	NM_000495.5(COL4A5):c.2722G>T:p.Gly908Ter	coding	Pathogenic
X	108621856	G	A	G108621856A	COL4A5	NM_033380.3(COL4A5):c.2731G>A:p.Gly911Arg	coding	Pathogenic
X	108621857	G	A	G108621857A	COL4A5	NM_033380.3(COL4A5):c.2732G>A:p.Gly911Glu	coding	Pathogenic
X	108621866	G	A	G108621866A	COL4A5	NM_033380.3(COL4A5):c.2741G>A:p.Gly914Asp	coding	Pathogenic
X	108621871	A	G	A108621871G	COL4A5	NM_033380.3(COL4A5):c.2746A>G:p.Ser916Gly	coding	Pathogenic
X	108621892	G	C	G108621892C	COL4A5	NM_033380.3(COL4A5):c.2767G>C:p.Gly923Arg	coding	Pathogenic
X	108621893	G	C	G108621893C	COL4A5	NM_033380.3(COL4A5):c.2767+1G>C	coding	Pathogenic
X	108622665	A	G	A108622665G	COL4A5	NM_033380.3(COL4A5):c.2768-11A>G	noncoding	Benign
X	108622666	T	C	T108622666C	COL4A5	NM_033380.3(COL4A5):c.2768-10T>C	noncoding	Benign
X	108622690	C	T	C108622690T	COL4A5	NM_033380.3(COL4A5):c.2782C>T:p.Gln928Ter	coding	Pathogenic
X	108622696	C	T	C108622696T	COL4A5	NM_033380.3(COL4A5):c.2788C>T:p.Gln930Ter	coding	Pathogenic
X	108622705	C	T	C108622705T	COL4A5	NM_033380.3(COL4A5):c.2797C>T:p.Leu933Phe	coding	Benign
X	108622723	G	T	G108622723T	COL4A5	NM_033380.3(COL4A5):c.2815G>T:p.Glu939Ter	coding	Pathogenic
X	108622729	G	T	G108622729T	COL4A5	NM_033380.3(COL4A5):c.2821G>T:p.Gly941Cys	coding	Pathogenic
X	108622730	G	A	G108622730A	COL4A5	NM_033380.3(COL4A5):c.2822G>A:p.Gly941Asp	coding	Pathogenic
X	108622748	G	A	G108622748A	COL4A5	NM_033380.3(COL4A5):c.2840G>A:p.Gly947Asp	coding	Pathogenic
X	108622826	G	A	G108622826A	COL4A5	NM_033380.3(COL4A5):c.2917+1G>A	coding	Pathogenic
X	108622826	G	C	G108622826C	COL4A5	NM_033380.3(COL4A5):c.2917+1G>C	coding	Pathogenic
X	108622826	G	T	G108622826T	COL4A5	NM_033380.3(COL4A5):c.2917+1G>T	coding	Pathogenic
X	108624235	G	A	G108624235A	COL4A5	NM_033380.3(COL4A5):c.2918-1G>A	noncoding	Pathogenic
X	108624235	G	C	G108624235C	COL4A5	NM_033380.3(COL4A5):c.2918-1G>C	noncoding	Pathogenic
X	108624235	G	T	G108624235T	COL4A5	NM_033380.3(COL4A5):c.2918-1G>T	noncoding	Pathogenic
X	108624236	G	A	G108624236A	COL4A5	NM_033380.3(COL4A5):c.2918G>A:p.Gly973Asp	coding	Pathogenic
X	108624297	T	G	T108624297G	COL4A5	NM_033380.3(COL4A5):c.2979T>G:p.Pro993=	coding	Benign
X	108624317	G	T	G108624317T	COL4A5	NM_033380.3(COL4A5):c.2999G>T:p.Gly1000Val	coding	Benign
X	108624335	G	T	G108624335T	COL4A5	NM_033380.3(COL4A5):c.3016+1G>T	coding	Pathogenic
X	108625704	G	A	G108625704A	COL4A5	NM_033380.3(COL4A5):c.3017-1G>A	noncoding	Pathogenic
X	108625705	G	T	G108625705T	COL4A5	NM_033380.3(COL4A5):c.3017G>T:p.Gly1006Val	coding	Pathogenic
X	108625717	A	G	A108625717G	COL4A5	NM_033380.3(COL4A5):c.3029A>G:p.Asn1010Ser	coding	Benign
X	108625732	G	T	G108625732T	COL4A5	NM_033380.3(COL4A5):c.3044G>T:p.Gly1015Val	coding	Pathogenic
X	108625734	C	T	C108625734T	COL4A5	NM_033380.3(COL4A5):c.3046C>T:p.Gln1016Ter	coding	Pathogenic
X	108625741	G	A	G108625741A	COL4A5	NM_033380.3(COL4A5):c.3053G>A:p.Gly1018Asp	coding	Pathogenic
X	108625759	G	A	G108625759A	COL4A5	NM_033380.3(COL4A5):c.3071G>A:p.Gly1024Glu	coding	Pathogenic
X	108625768	G	T	G108625768T	COL4A5	NM_033380.3(COL4A5):c.3080G>T:p.Gly1027Val	coding	Pathogenic
X	108625776	G	A	G108625776A	COL4A5	NM_033380.3(COL4A5):c.3088G>A:p.Gly1030Ser	coding	Pathogenic
X	108626206	A	G	A108626206G	COL4A5	NM_033380.3(COL4A5):c.3107-4A>G	noncoding	Pathogenic
X	108626208	A	G	A108626208G	COL4A5	NM_033380.3(COL4A5):c.3107-2A>G	noncoding	Pathogenic
X	108626210	G	T	G108626210T	COL4A5	NM_033380.3(COL4A5):c.3107G>T:p.Gly1036Val	coding	Pathogenic
X	108626218	G	A	G108626218A	COL4A5	NM_033380.3(COL4A5):c.3115G>A:p.Gly1039Ser	coding	Pathogenic
X	108626237	G	A	G108626237A	COL4A5	NM_033380.3(COL4A5):c.3134G>A:p.Gly1045Glu	coding	Pathogenic
X	108626251	C	T	C108626251T	COL4A5	NM_033380.3(COL4A5):c.3148C>T:p.Pro1050Ser	coding	Benign/Likely_benign
X	108626257	C	T	C108626257T	COL4A5	NM_033380.3(COL4A5):c.3154C>T:p.Gln1052Ter	coding	Pathogenic
X	108626272	G	T	G108626272T	COL4A5	NM_033380.3(COL4A5):c.3169G>T:p.Gly1057Ter	coding	Pathogenic
X	108626281	G	T	G108626281T	COL4A5	NM_033380.3(COL4A5):c.3178G>T:p.Gly1060Ter	coding	Pathogenic
X	108626284	C	T	C108626284T	COL4A5	NM_033380.3(COL4A5):c.3181C>T:p.Gln1061Ter	coding	Pathogenic
X	108626291	G	T	G108626291T	COL4A5	NM_033380.3(COL4A5):c.3188G>T:p.Gly1063Val	coding	Pathogenic
X	108626299	G	A	G108626299A	COL4A5	NM_033380.3(COL4A5):c.3196G>A:p.Gly1066Ser	coding	Pathogenic
X	108626299	G	C	G108626299C	COL4A5	NM_033380.3(COL4A5):c.3196G>C:p.Gly1066Arg	coding	Pathogenic
X	108626300	G	A	G108626300A	COL4A5	NM_033380.3(COL4A5):c.3197G>A:p.Gly1066Asp	coding	Pathogenic
X	108626300	G	C	G108626300C	COL4A5	NM_033380.3(COL4A5):c.3197G>C:p.Gly1066Ala	coding	Pathogenic
X	108626300	G	T	G108626300T	COL4A5	NM_033380.3(COL4A5):c.3197G>T:p.Gly1066Val	coding	Pathogenic
X	108626309	G	A	G108626309A	COL4A5	NM_033380.3(COL4A5):c.3206G>A:p.Gly1069Asp	coding	Pathogenic
X	108626315	C	G	C108626315G	COL4A5	NM_033380.3(COL4A5):c.3212C>G:p.Ser1071Ter	coding	Pathogenic
X	108626350	G	A	G108626350A	COL4A5	NM_033380.3(COL4A5):c.3246+1G>A	coding	Pathogenic
X	108655321	G	A	G108655321A	COL4A5	NM_033380.3(COL4A5):c.3247-10G>A	noncoding	Benign
X	108655330	G	A	G108655330A	COL4A5	NM_033380.3(COL4A5):c.3247-1G>A	noncoding	Pathogenic
X	108655331	G	A	G108655331A	COL4A5	NM_033380.3(COL4A5):c.3247G>A:p.Gly1083Ser	coding	Pathogenic
X	108655335	A	C	A108655335C	COL4A5	NM_033380.3(COL4A5):c.3251A>C:p.Glu1084Ala	coding	Benign
X	108655339	T	A	T108655339A	COL4A5	NM_033380.3(COL4A5):c.3255T>A:p.Pro1085=	coding	Benign
X	108655340	G	C	G108655340C	COL4A5	NM_033380.3(COL4A5):c.3256G>C:p.Gly1086Arg	coding	Pathogenic
X	108655341	G	A	G108655341A	COL4A5	NM_033380.3(COL4A5):c.3257G>A:p.Gly1086Asp	coding	Pathogenic
X	108655373	A	T	A108655373T	COL4A5	NM_033380.3(COL4A5):c.3289A>T:p.Lys1097Ter	coding	Pathogenic
X	108655395	G	T	G108655395T	COL4A5	NM_033380.3(COL4A5):c.3311G>T:p.Gly1104Val	coding	Pathogenic
X	108655398	T	A	T108655398A	COL4A5	NM_033380.3(COL4A5):c.3314T>A:p.Leu1105Ter	coding	Pathogenic
X	108655403	G	A	G108655403A	COL4A5	NM_033380.3(COL4A5):c.3319G>A:p.Gly1107Arg	coding	Pathogenic
X	108655403	G	T	G108655403T	COL4A5	NM_033380.3(COL4A5):c.3319G>T:p.Gly1107Ter	coding	Pathogenic
X	108655441	C	A	C108655441A	COL4A5	NM_033380.3(COL4A5):c.3357C>A:p.Gly1119=	coding	Benign
X	108655458	G	A	G108655458A	COL4A5	NM_033380.3(COL4A5):c.3373+1G>A	coding	Pathogenic
X	108665496	C	A	C108665496A	COL4A5	NM_033380.3(COL4A5):c.3374-11C>A	noncoding	Pathogenic
X	108665543	G	A	G108665543A	COL4A5	NM_033380.3(COL4A5):c.3410G>A:p.Gly1137Asp	coding	Pathogenic
X	108665560	G	A	G108665560A	COL4A5	NM_033380.3(COL4A5):c.3427G>A:p.Gly1143Ser	coding	Pathogenic/Likely_pathogenic
X	108665561	G	A	G108665561A	COL4A5	NM_033380.3(COL4A5):c.3428G>A:p.Gly1143Asp	coding	Pathogenic
X	108665588	G	T	G108665588T	COL4A5	NM_033380.3(COL4A5):c.3454+1G>T	coding	Pathogenic
X	108666487	A	G	A108666487G	COL4A5	NM_033380.3(COL4A5):c.3455-9A>G	noncoding	Pathogenic
X	108666513	G	A	G108666513A	COL4A5	NM_033380.3(COL4A5):c.3472G>A:p.Gly1158Arg	coding	Pathogenic
X	108666513	G	T	G108666513T	COL4A5	NM_033380.3(COL4A5):c.3472G>T:p.Gly1158Trp	coding	Pathogenic
X	108666516	C	T	C108666516T	COL4A5	NM_033380.3(COL4A5):c.3475C>T:p.Gln1159Ter	coding	Pathogenic
X	108666522	G	A	G108666522A	COL4A5	NM_033380.3(COL4A5):c.3481G>A:p.Gly1161Arg	coding	Pathogenic
X	108666522	G	C	G108666522C	COL4A5	NM_033380.3(COL4A5):c.3481G>C:p.Gly1161Arg	coding	Pathogenic
X	108666523	G	A	G108666523A	COL4A5	NM_033380.3(COL4A5):c.3482G>A:p.Gly1161Glu	coding	Pathogenic
X	108666540	G	A	G108666540A	COL4A5	NM_033380.3(COL4A5):c.3499G>A:p.Gly1167Ser	coding	Pathogenic
X	108666549	G	A	G108666549A	COL4A5	NM_000495.5(COL4A5):c.3508G>A:p.Gly1170Ser	coding	Pathogenic
X	108666554	A	G	A108666554G	COL4A5	NM_033380.3(COL4A5):c.3513A>G:p.Gln1171=	coding	Benign
X	108666560	T	G	T108666560G	COL4A5	NM_033380.3(COL4A5):c.3519T>G:p.Gly1173=	coding	Benign
X	108666567	G	A	G108666567A	COL4A5	NM_033380.3(COL4A5):c.3526G>A:p.Gly1176Arg	coding	Pathogenic
X	108666576	G	A	G108666576A	COL4A5	NM_033380.3(COL4A5):c.3535G>A:p.Gly1179Arg	coding	Pathogenic
X	108666579	C	T	C108666579T	COL4A5	NM_033380.3(COL4A5):c.3538C>T:p.Gln1180Ter	coding	Pathogenic
X	108666585	G	C	G108666585C	COL4A5	NM_033380.3(COL4A5):c.3544G>C:p.Gly1182Arg	coding	Pathogenic
X	108666586	G	T	G108666586T	COL4A5	NM_033380.3(COL4A5):c.3545G>T:p.Gly1182Val	coding	Pathogenic
X	108667124	C	G	C108667124G	COL4A5	NM_033380.3(COL4A5):c.3554-9C>G	noncoding	Pathogenic
X	108667130	C	G	C108667130G	COL4A5	NM_033380.3(COL4A5):c.3554-3C>G	noncoding	Pathogenic
X	108667132	G	A	G108667132A	COL4A5	NM_033380.3(COL4A5):c.3554-1G>A	noncoding	Pathogenic
X	108667161	C	T	C108667161T	COL4A5	NM_033380.3(COL4A5):c.3582C>T:p.Pro1194=	coding	Benign
X	108667165	G	A	G108667165A	COL4A5	NM_033380.3(COL4A5):c.3586G>A:p.Gly1196Arg	coding	Pathogenic
X	108667166	G	A	G108667166A	COL4A5	NM_033380.3(COL4A5):c.3587G>A:p.Gly1196Glu	coding	Pathogenic
X	108667167	A	G	A108667167G	COL4A5	NM_033380.3(COL4A5):c.3588A>G:p.Gly1196=	coding	Pathogenic
X	108667185	T	A	T108667185A	COL4A5	NM_033380.3(COL4A5):c.3604+2T>A	noncoding	Pathogenic
X	108667186	A	T	A108667186T	COL4A5	NM_033380.3(COL4A5):c.3604+3A>T	noncoding	Pathogenic
X	108668317	A	G	A108668317G	COL4A5	NM_033380.3(COL4A5):c.3605-2A>G	noncoding	Pathogenic
X	108668318	G	A	G108668318A	COL4A5	NM_033380.3(COL4A5):c.3605-1G>A	noncoding	Pathogenic
X	108668327	G	A	G108668327A	COL4A5	NM_033380.3(COL4A5):c.3613G>A:p.Gly1205Ser	coding	Pathogenic
X	108668327	G	T	G108668327T	COL4A5	NM_033380.3(COL4A5):c.3613G>T:p.Gly1205Cys	coding	Pathogenic
X	108668328	G	A	G108668328A	COL4A5	NM_033380.3(COL4A5):c.3614G>A:p.Gly1205Asp	coding	Pathogenic
X	108668328	G	T	G108668328T	COL4A5	NM_000495.5(COL4A5):c.3614G>T:p.Gly1205Val	coding	Pathogenic
X	108668345	G	C	G108668345C	COL4A5	NM_033380.3(COL4A5):c.3631G>C:p.Gly1211Arg	coding	Pathogenic
X	108668346	G	A	G108668346A	COL4A5	NM_033380.3(COL4A5):c.3632G>A:p.Gly1211Glu	coding	Pathogenic
X	108668355	G	A	G108668355A	COL4A5	NM_033380.3(COL4A5):c.3641G>A:p.Gly1214Glu	coding	Pathogenic
X	108668364	G	A	G108668364A	COL4A5	NM_033380.3(COL4A5):c.3650G>A:p.Gly1217Asp	coding	Pathogenic
X	108668373	G	A	G108668373A	COL4A5	NM_033380.3(COL4A5):c.3659G>A:p.Gly1220Asp	coding	Pathogenic
X	108668382	G	A	G108668382A	COL4A5	NM_033380.3(COL4A5):c.3668G>A:p.Gly1223Asp	coding	Pathogenic
X	108668382	G	T	G108668382T	COL4A5	NM_033380.3(COL4A5):c.3668G>T:p.Gly1223Val	coding	Pathogenic
X	108668399	G	A	G108668399A	COL4A5	NM_033380.3(COL4A5):c.3685G>A:p.Gly1229Ser	coding	Pathogenic
X	108668399	G	T	G108668399T	COL4A5	NM_033380.3(COL4A5):c.3685G>T:p.Gly1229Cys	coding	Pathogenic
X	108668400	G	A	G108668400A	COL4A5	NM_033380.3(COL4A5):c.3686G>A:p.Gly1229Asp	coding	Pathogenic
X	108668408	G	A	G108668408A	COL4A5	NM_033380.3(COL4A5):c.3694G>A:p.Gly1232Ser	coding	Pathogenic
X	108668414	C	T	C108668414T	COL4A5	NM_033380.3(COL4A5):c.3700C>T:p.Gln1234Ter	coding	Pathogenic
X	108668435	G	C	G108668435C	COL4A5	NM_033380.3(COL4A5):c.3721G>C:p.Gly1241Arg	coding	Pathogenic
X	108668435	G	T	G108668435T	COL4A5	NM_033380.3(COL4A5):c.3721G>T:p.Gly1241Cys	coding	Pathogenic
X	108668436	G	A	G108668436A	COL4A5	NM_033380.3(COL4A5):c.3722G>A:p.Gly1241Asp	coding	Pathogenic
X	108668436	G	T	G108668436T	COL4A5	NM_033380.3(COL4A5):c.3722G>T:p.Gly1241Val	coding	Pathogenic
X	108668445	G	A	G108668445A	COL4A5	NM_033380.3(COL4A5):c.3731G>A:p.Gly1244Asp	coding	Pathogenic
X	108668468	G	A	G108668468A	COL4A5	NM_033380.3(COL4A5):c.3754G>A:p.Gly1252Ser	coding	Pathogenic
X	108668477	G	A	G108668477A	COL4A5	NM_033380.3(COL4A5):c.3763G>A:p.Gly1255Arg	coding	Pathogenic
X	108668483	C	T	C108668483T	COL4A5	NM_033380.3(COL4A5):c.3769C>T:p.Gln1257Ter	coding	Pathogenic
X	108668485	A	G	A108668485G	COL4A5	NM_033380.3(COL4A5):c.3771A>G:p.Gln1257=	coding	Benign
X	108668486	G	A	G108668486A	COL4A5	NM_033380.3(COL4A5):c.3772G>A:p.Gly1258Ser	coding	Pathogenic
X	108668496	G	A	G108668496A	COL4A5	NM_033380.3(COL4A5):c.3782G>A:p.Gly1261Glu	coding	Pathogenic
X	108677498	A	T	A108677498T	COL4A5	NM_033380.3(COL4A5):c.3809-2A>T	coding	Pathogenic
X	108677517	G	A	G108677517A	COL4A5	NM_033380.3(COL4A5):c.3826G>A:p.Gly1276Ser	coding	Pathogenic
X	108677614	A	G	A108677614G	COL4A5	NM_033380.3(COL4A5):c.3923A>G:p.Gln1308Arg	coding	Benign
X	108677633	G	C	G108677633C	COL4A5	NM_033380.3(COL4A5):c.3942G>C:p.Gln1314His	coding	Pathogenic
X	108677634	G	C	G108677634C	COL4A5	NM_033380.3(COL4A5):c.3942+1G>C	coding	Pathogenic
X	108680677	A	G	A108680677G	COL4A5	NM_033380.3(COL4A5):c.3943-2A>G	noncoding	Pathogenic
X	108680678	G	A	G108680678A	COL4A5	NM_033380.3(COL4A5):c.3943-1G>A	noncoding	Pathogenic
X	108680696	G	A	G108680696A	COL4A5	NM_033380.3(COL4A5):c.3960G>A:p.Pro1320=	coding	Benign
X	108680712	A	T	A108680712T	COL4A5	NM_033380.3(COL4A5):c.3976A>T:p.Lys1326Ter	coding	Pathogenic
X	108680751	G	A	G108680751A	COL4A5	NM_033380.3(COL4A5):c.4015G>A:p.Gly1339Ser	coding	Pathogenic
X	108680756	T	C	T108680756C	COL4A5	NM_033380.3(COL4A5):c.4015+5T>C	noncoding	Benign
X	108680883	A	G	A108680883G	COL4A5	NM_033380.3(COL4A5):c.4016-2A>G	noncoding	Pathogenic
X	108680883	A	T	A108680883T	COL4A5	NM_033380.3(COL4A5):c.4016-2A>T	noncoding	Pathogenic
X	108680884	G	A	G108680884A	COL4A5	NM_033380.3(COL4A5):c.4016-1G>A	noncoding	Pathogenic
X	108680893	G	T	G108680893T	COL4A5	NM_033380.3(COL4A5):c.4024G>T:p.Gly1342Ter	coding	Pathogenic
X	108680911	G	A	G108680911A	COL4A5	NM_033380.3(COL4A5):c.4042G>A:p.Gly1348Arg	coding	Pathogenic
X	108680941	C	A	C108680941A	COL4A5	NM_033380.3(COL4A5):c.4072C>A:p.Leu1358Ile	coding	Benign
X	108680947	G	T	G108680947T	COL4A5	NM_033380.3(COL4A5):c.4078G>T:p.Gly1360Cys	coding	Pathogenic
X	108680956	G	A	G108680956A	COL4A5	NM_033380.3(COL4A5):c.4087G>A:p.Gly1363Ser	coding	Pathogenic
X	108680957	G	A	G108680957A	COL4A5	NM_033380.3(COL4A5):c.4087+1G>A	coding	Pathogenic
X	108681789	C	A	C108681789A	COL4A5	NM_033380.3(COL4A5):c.4117C>A:p.Gln1373Lys	coding	Benign
X	108681826	G	T	G108681826T	COL4A5	NM_033380.3(COL4A5):c.4154G>T:p.Gly1385Val	coding	Pathogenic
X	108681837	C	T	C108681837T	COL4A5	NM_033380.3(COL4A5):c.4165C>T:p.Gln1389Ter	coding	Pathogenic
X	108681861	G	T	G108681861T	COL4A5	NM_033380.3(COL4A5):c.4189G>T:p.Gly1397Ter	coding	Pathogenic
X	108681867	C	T	C108681867T	COL4A5	NM_033380.3(COL4A5):c.4195C>T:p.Gln1399Ter	coding	Pathogenic
X	108681881	C	T	C108681881T	COL4A5	NM_033380.3(COL4A5):c.4209C>T:p.Gly1403=	coding	Benign
X	108686030	G	A	G108686030A	COL4A5	NM_033380.3(COL4A5):c.4217-1G>A	noncoding	Pathogenic
X	108686037	C	G	C108686037G	COL4A5	NM_033380.3(COL4A5):c.4223C>G:p.Thr1408Ser	coding	Benign
X	108686071	C	T	C108686071T	COL4A5	NM_033380.3(COL4A5):c.4257C>T:p.Leu1419=	coding	Benign
X	108686093	G	T	G108686093T	COL4A5	NM_033380.3(COL4A5):c.4279G>T:p.Gly1427Trp	coding	Pathogenic
X	108686096	C	T	C108686096T	COL4A5	NM_033380.3(COL4A5):c.4282C>T:p.Arg1428Cys	coding	Benign
X	108686103	G	A	G108686103A	COL4A5	NM_033380.3(COL4A5):c.4289G>A:p.Gly1430Glu	coding	Pathogenic
X	108686107	C	T	C108686107T	COL4A5	NM_033380.3(COL4A5):c.4293C>T:p.Asp1431=	coding	Benign
X	108686111	G	T	G108686111T	COL4A5	NM_033380.3(COL4A5):c.4297G>T:p.Gly1433Cys	coding	Pathogenic
X	108686112	G	C	G108686112C	COL4A5	NM_033380.3(COL4A5):c.4298G>C:p.Gly1433Ala	coding	Pathogenic
X	108686112	G	T	G108686112T	COL4A5	NM_033380.3(COL4A5):c.4298G>T:p.Gly1433Val	coding	Pathogenic
X	108686123	C	G	C108686123G	COL4A5	NM_033380.3(COL4A5):c.4309C>G:p.Gln1437Glu	coding	Benign
X	108686130	G	A	G108686130A	COL4A5	NM_033380.3(COL4A5):c.4315+1G>A	coding	Pathogenic
X	108686130	G	C	G108686130C	COL4A5	NM_000495.5(COL4A5):c.4297+1G>C	coding	Pathogenic
X	108686138	A	T	A108686138T	COL4A5	NM_033380.3(COL4A5):c.4315+9A>T	noncoding	Benign
X	108687481	G	C	G108687481C	COL4A5	NM_033380.2(COL4A5):c.4316-1G>C:p.?	noncoding	Pathogenic
X	108687481	G	T	G108687481T	COL4A5	NM_033380.3(COL4A5):c.4316-1G>T	noncoding	Pathogenic
X	108687482	G	T	G108687482T	COL4A5	NM_033380.3(COL4A5):c.4316G>T:p.Gly1439Val	coding	Pathogenic
X	108687508	G	C	G108687508C	COL4A5	NM_033380.3(COL4A5):c.4342G>C:p.Gly1448Arg	coding	Pathogenic
X	108687509	G	A	G108687509A	COL4A5	NM_033380.3(COL4A5):c.4343G>A:p.Gly1448Asp	coding	Pathogenic
X	108687509	G	C	G108687509C	COL4A5	NM_033380.3(COL4A5):c.4343G>C:p.Gly1448Ala	coding	Pathogenic
X	108687519	A	T	A108687519T	COL4A5	NM_033380.3(COL4A5):c.4353A>T:p.Gly1451=	coding	Benign/Likely_benign
X	108687526	G	A	G108687526A	COL4A5	NM_033380.3(COL4A5):c.4360G>A:p.Gly1454Ser	coding	Pathogenic
X	108687526	G	C	G108687526C	COL4A5	NM_033380.3(COL4A5):c.4360G>C:p.Gly1454Arg	coding	Pathogenic
X	108687535	G	A	G108687535A	COL4A5	NM_033380.3(COL4A5):c.4369G>A:p.Gly1457Ser	coding	Pathogenic
X	108687536	G	A	G108687536A	COL4A5	NM_033380.3(COL4A5):c.4370G>A:p.Gly1457Asp	coding	Pathogenic
X	108687607	C	T	C108687607T	COL4A5	NM_033380.3(COL4A5):c.4441C>T:p.Gln1481Ter	coding	Pathogenic
X	108687611	G	T	G108687611T	COL4A5	NM_033380.3(COL4A5):c.4445G>T:p.Cys1482Phe	coding	Pathogenic
X	108687623	C	G	C108687623G	COL4A5	NM_033380.3(COL4A5):c.4457C>G:p.Thr1486Arg	coding	Pathogenic
X	108687636	T	G	T108687636G	COL4A5	NM_033380.3(COL4A5):c.4470T>G:p.Tyr1490Ter	coding	Pathogenic
X	108687641	G	A	G108687641A	COL4A5	NM_033380.3(COL4A5):c.4475G>A:p.Gly1492Asp	coding	Pathogenic
X	108687641	G	C	G108687641C	COL4A5	NM_033380.3(COL4A5):c.4475G>C:p.Gly1492Ala	coding	Pathogenic
X	108687647	C	T	C108687647T	COL4A5	NM_033380.3(COL4A5):c.4481C>T:p.Ser1494Phe	coding	Pathogenic
X	108687666	A	G	A108687666G	COL4A5	NM_033380.3(COL4A5):c.4500A>G:p.Gly1500=	coding	Benign
X	108687677	C	A	C108687677A	COL4A5	NM_033380.3(COL4A5):c.4511C>A:p.Ala1504Asp	coding	Pathogenic
X	108687685	C	T	C108687685T	COL4A5	NM_033380.3(COL4A5):c.4519C>T:p.Gln1507Ter	coding	Pathogenic
X	108687695	G	A	G108687695A	COL4A5	NM_033380.3(COL4A5):c.4528+1G>A	coding	Pathogenic
X	108687695	G	C	G108687695C	COL4A5	NM_033380.3(COL4A5):c.4528+1G>C	coding	Pathogenic
X	108687695	G	T	G108687695T	COL4A5	NM_033380.3(COL4A5):c.4528+1G>T	coding	Pathogenic
X	108692403	A	G	A108692403G	COL4A5	NM_033380.3(COL4A5):c.4529-345A>G	noncoding	Pathogenic/Likely_pathogenic
X	108692742	T	C	T108692742C	COL4A5	NM_033380.3(COL4A5):c.4529-6T>C	noncoding	Benign
X	108692800	C	A	C108692800A	COL4A5	NM_033380.3(COL4A5):c.4581C>A:p.Cys1527Ter	coding	Pathogenic
X	108692850	G	C	G108692850C	COL4A5	NM_033380.3(COL4A5):c.4631G>C:p.Trp1544Ser	coding	Pathogenic
X	108692851	G	A	G108692851A	COL4A5	NM_033380.3(COL4A5):c.4632G>A:p.Trp1544Ter	coding	Pathogenic
X	108692862	C	T	C108692862T	COL4A5	NM_033380.3(COL4A5):c.4643C>T:p.Pro1548Leu	coding	Benign
X	108692924	C	T	C108692924T	COL4A5	NM_033380.3(COL4A5):c.4705C>T:p.Arg1569Ter	coding	Pathogenic
X	108692925	G	A	G108692925A	COL4A5	NM_033380.3(COL4A5):c.4706G>A:p.Arg1569Gln	coding	Pathogenic
X	108692926	G	A	G108692926A	COL4A5	NM_033380.3(COL4A5):c.4706+1G>A	coding	Pathogenic
X	108692929	A	T	A108692929T	COL4A5	NM_033380.3(COL4A5):c.4706+4A>T	noncoding	Pathogenic
X	108694806	G	C	G108694806C	COL4A5	NM_000495.5(COL4A5):c.4689-1G>C	noncoding	Pathogenic
X	108694808	T	C	T108694808C	COL4A5	NM_033380.3(COL4A5):c.4708T>C:p.Cys1570Arg	coding	Pathogenic
X	108694809	G	C	G108694809C	COL4A5	NM_033380.3(COL4A5):c.4709G>C:p.Cys1570Ser	coding	Pathogenic
X	108694817	T	C	T108694817C	COL4A5	NM_033380.3(COL4A5):c.4717T>C:p.Cys1573Arg	coding	Pathogenic
X	108694818	G	C	G108694818C	COL4A5	NM_033380.3(COL4A5):c.4718G>C:p.Cys1573Ser	coding	Pathogenic
X	108694819	T	A	T108694819A	COL4A5	NM_033380.3(COL4A5):c.4719T>A:p.Cys1573Ter	coding	Pathogenic
X	108694820	G	A	G108694820A	COL4A5	NM_033380.3(COL4A5):c.4720G>A:p.Glu1574Lys	coding	Pathogenic
X	108694841	G	T	G108694841T	COL4A5	NM_033380.3(COL4A5):c.4741G>T:p.Ala1581Ser	coding	Benign
X	108694869	C	T	C108694869T	COL4A5	NM_033380.3(COL4A5):c.4769C>T:p.Pro1590Leu	coding	Pathogenic
X	108694874	T	C	T108694874C	COL4A5	NM_033380.3(COL4A5):c.4774T>C:p.Cys1592Arg	coding	Pathogenic
X	108694875	G	T	G108694875T	COL4A5	NM_033380.3(COL4A5):c.4775G>T:p.Cys1592Phe	coding	Pathogenic
X	108694884	G	T	G108694884T	COL4A5	NM_033380.3(COL4A5):c.4784G>T:p.Gly1595Val	coding	Pathogenic
X	108694886	T	G	T108694886G	COL4A5	NM_033380.3(COL4A5):c.4786T>G:p.Trp1596Gly	coding	Pathogenic
X	108694900	G	A	G108694900A	COL4A5	NM_033380.3(COL4A5):c.4800G>A:p.Trp1600Ter	coding	Pathogenic
X	108694905	G	A	G108694905A	COL4A5	NM_033380.3(COL4A5):c.4805G>A:p.Gly1602Asp	coding	Pathogenic
X	108694905	G	T	G108694905T	COL4A5	NM_033380.3(COL4A5):c.4805G>T:p.Gly1602Val	coding	Pathogenic
X	108694908	A	G	A108694908G	COL4A5	NM_033380.3(COL4A5):c.4808A>G:p.Tyr1603Cys	coding	Pathogenic
X	108694909	T	A	T108694909A	COL4A5	NM_033380.3(COL4A5):c.4809T>A:p.Tyr1603Ter	coding	Pathogenic
X	108694911	C	T	C108694911T	COL4A5	NM_033380.3(COL4A5):c.4811C>T:p.Ser1604Phe	coding	Pathogenic/Likely_pathogenic
X	108694921	G	A	G108694921A	COL4A5	NM_033380.3(COL4A5):c.4821G>A:p.Met1607Ile	coding	Pathogenic
X	108694922	G	A	G108694922A	COL4A5	NM_033380.3(COL4A5):c.4821+1G>A	coding	Pathogenic
X	108695042	T	C	T108695042C	COL4A5	NM_033380.3(COL4A5):c.4821+121T>C	noncoding	Pathogenic
X	108695265	A	C	A108695265C	COL4A5	NM_033380.3(COL4A5):c.4822-2A>C	noncoding	Pathogenic
X	108695266	G	T	G108695266T	COL4A5	NM_033380.3(COL4A5):c.4822-1G>T	noncoding	Pathogenic
X	108695292	C	A	C108695292A	COL4A5	NM_033380.3(COL4A5):c.4847C>A:p.Ser1616Ter	coding	Pathogenic
X	108695325	T	C	T108695325C	COL4A5	NM_033380.3(COL4A5):c.4880T>C:p.Leu1627Ser	coding	Pathogenic
X	108695357	T	G	T108695357G	COL4A5	NM_033380.3(COL4A5):c.4912T>G:p.Cys1638Gly	coding	Pathogenic
X	108695358	G	A	G108695358A	COL4A5	NM_033380.3(COL4A5):c.4913G>A:p.Cys1638Tyr	coding	Pathogenic
X	108695376	G	A	G108695376A	COL4A5	NM_033380.3(COL4A5):c.4931G>A:p.Cys1644Tyr	coding	Pathogenic
X	108695376	G	C	G108695376C	COL4A5	NM_033380.3(COL4A5):c.4931G>C:p.Cys1644Ser	coding	Pathogenic
X	108695383	C	G	C108695383G	COL4A5	NM_033380.3(COL4A5):c.4938C>G:p.Tyr1646Ter	coding	Pathogenic
X	108695394	C	G	C108695394G	COL4A5	NM_033380.3(COL4A5):c.4949C>G:p.Ser1650Cys	coding	Pathogenic
X	108695407	G	A	G108695407A	COL4A5	NM_033380.3(COL4A5):c.4962G>A:p.Trp1654Ter	coding	Pathogenic
X	108695409	T	G	T108695409G	COL4A5	NM_033380.3(COL4A5):c.4964T>G:p.Leu1655Arg	coding	Pathogenic
X	108695439	G	A	G108695439A	COL4A5	NM_033380.3(COL4A5):c.4994G>A:p.Ser1665Asn	coding	Pathogenic
X	108695441	T	C	T108695441C	COL4A5	NM_033380.3(COL4A5):c.4994+2T>C	noncoding	Pathogenic
X	108696295	A	G	A108696295G	COL4A5	NM_033380.3(COL4A5):c.4995-2A>G	noncoding	Pathogenic
X	108696314	C	T	C108696314T	COL4A5	NM_033380.3(COL4A5):c.5012C>T:p.Thr1671Met	coding	Benign
X	108696340	C	T	C108696340T	COL4A5	NM_033380.3(COL4A5):c.5038C>T:p.Arg1680Ter	coding	Pathogenic
X	108696349	C	T	C108696349T	COL4A5	NM_033380.3(COL4A5):c.5047C>T:p.Arg1683Ter	coding	Pathogenic
X	108696350	G	A	G108696350A	COL4A5	NM_033380.3(COL4A5):c.5048G>A:p.Arg1683Gln	coding	Pathogenic/Likely_pathogenic
X	108696350	G	C	G108696350C	COL4A5	NM_033380.3(COL4A5):c.5048G>C:p.Arg1683Pro	coding	Pathogenic
X	108696350	G	T	G108696350T	COL4A5	NM_033380.3(COL4A5):c.5048G>T:p.Arg1683Leu	coding	Pathogenic
X	108696352	T	C	T108696352C	COL4A5	NM_033380.3(COL4A5):c.5050T>C:p.Cys1684Arg	coding	Pathogenic
X	108696354	T	G	T108696354G	COL4A5	NM_033380.3(COL4A5):c.5052T>G:p.Cys1684Trp	coding	Pathogenic
X	108696356	A	C	A108696356C	COL4A5	NM_033380.3(COL4A5):c.5054A>C:p.Gln1685Pro	coding	Pathogenic
X	108696361	T	G	T108696361G	COL4A5	NM_033380.3(COL4A5):c.5059T>G:p.Cys1687Gly	coding	Pathogenic
X	108696362	G	T	G108696362T	COL4A5	NM_033380.3(COL4A5):c.5060G>T:p.Cys1687Phe	coding	Pathogenic
X	108696371	G	A	G108696371A	COL4A5	NM_033380.3(COL4A5):c.5069G>A:p.Arg1690Lys	coding	Pathogenic
X	108732576	G	T	G108732576T	IRS4	NM_003604.2(IRS4):c.3769C>A:p.Arg1257=	coding	Benign
X	108732657	C	A	C108732657A	IRS4	NM_003604.2(IRS4):c.3688G>T:p.Asp1230Tyr	coding	Benign
X	108733240	G	A	G108733240A	IRS4	NM_003604.2(IRS4):c.3105C>T:p.Ala1035=	coding	Benign
X	108735147	C	T	C108735147T	IRS4	NM_003604.2(IRS4):c.1198G>A:p.Val400Ile	coding	Benign
X	108735702	C	A	C108735702A	IRS4	NM_003604.2(IRS4):c.643G>T:p.Gly215Ter	coding	Pathogenic
X	108736171	C	T	C108736171T	IRS4	NM_003604.2(IRS4):c.174G>A:p.Thr58=	coding	Benign
X	109448155	T	G	T109448155G	GUCY2F	NM_001522.3(GUCY2F):c.1483A>C:p.Asn495His	coding	Benign
X	109465244	T	C	T109465244C	GUCY2F	NM_001522.3(GUCY2F):c.930A>G:p.Ala310=	coding	Benign
X	109465251	T	C	T109465251C	GUCY2F	NM_001522.3(GUCY2F):c.923A>G:p.Tyr308Cys	coding	Benign
X	109475249	G	A	G109475249A	GUCY2F	NM_001522.3(GUCY2F):c.688C>T:p.Arg230Trp	coding	Benign
X	109475717	C	G	C109475717G	GUCY2F	NM_001522.3(GUCY2F):c.220G>C:p.Val74Leu	coding	Benign
X	109624780	A	G	A109624780G	KCNE5	NM_012282.4(KCNE5):c.241T>C:p.Tyr81His	coding	Benign
X	109644195	A	G	A109644195G	ACSL4	NM_001318510.2(ACSL4):c.1856-9T>C	noncoding	Benign
X	109661643	G	T	G109661643T	ACSL4	NM_001318510.2(ACSL4):c.1585C>A:p.Arg529Ser	coding	Pathogenic
X	109668236	T	C	T109668236C	ACSL4	NM_001318510.2(ACSL4):c.1180A>G:p.Asn394Asp	coding	Benign
X	109669175	T	C	T109669175C	ACSL4	NM_001318510.2(ACSL4):c.1003-2A>G	noncoding	Pathogenic
X	109674403	G	A	G109674403A	ACSL4	NM_001318510.2(ACSL4):c.1001C>T:p.Pro334Leu	coding	Pathogenic
X	109674471	G	A	G109674471A	ACSL4	NM_001318510.2(ACSL4):c.933C>T:p.Ser311=	coding	Benign
X	109678018	T	C	T109678018C	ACSL4	NM_001318510.2(ACSL4):c.900A>G:p.Gly300=	coding	Benign
X	109681324	T	C	T109681324C	ACSL4	NM_001318510.2(ACSL4):c.458A>G:p.Asn153Ser	coding	Benign
X	109683252	G	A	G109683252A	ACSL4	NM_001318510.2(ACSL4):c.112C>T:p.Leu38=	coding	Benign
X	110198562	A	G	A110198562G	AMMECR1	NM_015365.3(AMMECR1):c.960T>C:p.Asn320=	coding	Benign
X	110202486	T	C	T110202486C	AMMECR1	NM_015365.3(AMMECR1):c.750A>G:p.Lys250=	coding	Benign
X	110264543	C	T	C110264543T	AMMECR1	NM_015365.3(AMMECR1):c.530G>A:p.Gly177Asp	coding	Pathogenic
X	110264571	G	A	G110264571A	AMMECR1	NM_015365.3(AMMECR1):c.502C>T:p.Arg168Ter	coding	Pathogenic
X	110317643	A	T	A110317643T	AMMECR1	NM_015365.3(AMMECR1):c.429T>A:p.Tyr143Ter	coding	Pathogenic
X	110676263	A	G	A110676263G	CHRDL1	NM_001143981.2(CHRDL1):c.1345T>C:p.Tyr449His	coding	Benign
X	110681487	C	T	C110681487T	CHRDL1	NM_001143981.2(CHRDL1):c.1151G>A:p.Arg384Gln	coding	Benign
X	110688628	T	C	T110688628C	CHRDL1	NM_001143981.2(CHRDL1):c.954A>G:p.Lys318=	coding	Benign
X	110688673	G	A	G110688673A	CHRDL1	NM_001143981.2(CHRDL1):c.909C>T:p.Cys303=	coding	Benign
X	110688800	C	A	C110688800A	CHRDL1	NM_001143981.2(CHRDL1):c.782G>T:p.Cys261Phe	coding	Pathogenic
X	110694289	G	A	G110694289A	CHRDL1	NM_001143981.2(CHRDL1):c.652C>T:p.Arg218Ter	coding	Pathogenic
X	110694315	C	T	C110694315T	CHRDL1	NM_001143981.2(CHRDL1):c.626G>A:p.Arg209His	coding	Benign
X	110700672	T	C	T110700672C	CHRDL1	NM_001143981.2(CHRDL1):c.591A>G:p.Gln197=	coding	Benign
X	110700676	C	T	C110700676T	CHRDL1	NM_001143981.2(CHRDL1):c.587G>A:p.Arg196Gln	coding	Benign
X	110759659	A	C	A110759659C	CHRDL1	NM_001143981.2(CHRDL1):c.301+2T>G	noncoding	Pathogenic
X	110792137	C	T	C110792137T	CHRDL1	NM_001143981.2(CHRDL1):c.45G>A:p.Ser15=	coding	Benign
X	110792163	T	C	T110792163C	CHRDL1	NM_001143981.2(CHRDL1):c.19A>G:p.Met7Val	coding	Benign
X	111096276	G	A	G111096276A	PAK3	NM_002578.5(PAK3):c.-492G>A	noncoding	Benign
X	111103271	A	G	A111103271G	PAK3	NM_002578.5(PAK3):c.-63A>G	noncoding	Benign
X	111123089	T	C	T111123089C	PAK3	NM_002578.5(PAK3):c.-15T>C	noncoding	Benign
X	111123112	C	T	C111123112T	PAK3	NM_002578.5(PAK3):c.9C>T:p.Asp3=	coding	Benign
X	111123113	G	A	G111123113A	PAK3	NM_002578.5(PAK3):c.10G>A:p.Gly4Ser	coding	Benign/Likely_benign
X	111142119	C	T	C111142119T	PAK3	NM_002578.5(PAK3):c.199C>T:p.Arg67Cys	coding	Pathogenic
X	111144855	T	C	T111144855C	PAK3	NM_002578.5(PAK3):c.276+2659T>C	noncoding	Benign
X	111162929	A	G	A111162929G	PAK3	NM_002578.5(PAK3):c.483A>G:p.Ala161=	coding	Benign/Likely_benign
X	111162977	G	A	G111162977A	PAK3	NM_002578.5(PAK3):c.531G>A:p.Glu177=	coding	Benign/Likely_benign
X	111163552	G	T	G111163552T	PAK3	NM_002578.5(PAK3):c.601-10G>T	noncoding	Benign
X	111163626	C	A	C111163626A	PAK3	NM_002578.5(PAK3):c.665C>A:p.Pro222Gln	coding	Benign
X	111192544	G	A	G111192544A	PAK3	NM_002578.5(PAK3):c.918G>A:p.Lys306=	coding	Benign
X	111192602	G	C	G111192602C	PAK3	NM_002578.5(PAK3):c.976G>C:p.Val326Leu	coding	Pathogenic
X	111194402	C	A	C111194402A	PAK3	NM_002578.5(PAK3):c.1094C>A:p.Ala365Glu	coding	Pathogenic
X	111195916	C	T	C111195916T	PAK3	NM_002578.5(PAK3):c.1185C>T:p.Leu395=	coding	Benign
X	111196488	C	T	C111196488T	PAK3	NM_002578.5(PAK3):c.1255C>T:p.Arg419Ter	coding	Pathogenic
X	111196570	G	C	G111196570C	PAK3	NM_002578.5(PAK3):c.1337G>C:p.Trp446Ser	coding	Pathogenic
X	111216531	G	A	G111216531A	PAK3	NM_002578.5(PAK3):c.1518G>A:p.Arg506=	coding	Benign
X	111220910	T	C	T111220910C	PAK3	NM_002578.5(PAK3):c.*463T>C	noncoding	Benign
X	111248637	G	A	G111248637A	CAPN6	NM_014289.4(CAPN6):c.1416C>T:p.Thr472=	coding	Benign
X	111301745	T	C	T111301745C	DCX	NM_001195553.2(DCX):c.1045-2A>G	noncoding	Pathogenic
X	111312405	C	T	C111312405T	DCX	NM_001195553.2(DCX):c.1044+234G>A	noncoding	Benign
X	111312735	T	G	T111312735G	DCX	NM_001195553.2(DCX):c.948A>C:p.Ala316=	coding	Benign/Likely_benign
X	111312782	A	G	A111312782G	DCX	NM_001195553.2(DCX):c.947-46T>C	noncoding	Benign/Likely_benign
X	111330943	G	A	G111330943A	DCX	NM_001195553.2(DCX):c.907C>T:p.Arg303Ter	coding	Pathogenic
X	111330997	T	A	T111330997A	DCX	NM_001195553.2(DCX):c.853A>T:p.Lys285Ter	coding	Pathogenic
X	111331036	G	A	G111331036A	DCX	NM_001195553.2(DCX):c.814C>T:p.Arg272Ter	coding	Pathogenic
X	111331042	C	T	C111331042T	DCX	NM_001195553.2(DCX):c.809-1G>A	coding	Pathogenic/Likely_pathogenic
X	111331050	A	G	A111331050G	DCX	NM_001195553.2(DCX):c.809-9T>C	noncoding	Benign
X	111333078	G	A	G111333078A	DCX	NM_001195553.2(DCX):c.781C>T:p.Gln261Ter	coding	Pathogenic
X	111333093	T	A	T111333093A	DCX	NM_001195553.2(DCX):c.766A>T:p.Lys256Ter	coding	Pathogenic
X	111333096	C	A	C111333096A	DCX	NM_001195553.2(DCX):c.763G>T:p.Glu255Ter	coding	Pathogenic
X	111333108	C	A	C111333108A	DCX	NM_001195553.2(DCX):c.751G>T:p.Ala251Ser	coding	Pathogenic
X	111333155	T	C	T111333155C	DCX	NM_178152.3(DCX):c.706-2A>G	noncoding	Pathogenic
X	111400942	T	C	T111400942C	DCX	NM_001195553.2(DCX):c.705+48A>G	noncoding	Benign/Likely_benign
X	111400961	C	T	C111400961T	DCX	NM_001195553.2(DCX):c.705+29G>A	noncoding	Benign
X	111401012	A	G	A111401012G	DCX	NM_001195553.2(DCX):c.683T>C:p.Leu228Pro	coding	Pathogenic
X	111401029	G	A	G111401029A	DCX	NM_001195553.2(DCX):c.666C>T:p.Thr222=	coding	Benign
X	111401054	A	G	A111401054G	DCX	NM_001195553.2(DCX):c.641T>C:p.Ile214Thr	coding	Pathogenic
X	111401067	C	A	C111401067A	DCX	NM_001195553.2(DCX):c.628G>T:p.Val210Phe	coding	Pathogenic
X	111401084	G	T	G111401084T	DCX	NM_001195553.2(DCX):c.611C>A:p.Ala204Asp	coding	Pathogenic
X	111401087	G	C	G111401087C	DCX	NM_001195553.2(DCX):c.608C>G:p.Thr203Arg	coding	Pathogenic
X	111401087	G	T	G111401087T	DCX	NM_001195553.2(DCX):c.608C>A:p.Thr203Lys	coding	Pathogenic
X	111401088	T	C	T111401088C	DCX	NM_001195553.2(DCX):c.607A>G:p.Thr203Ala	coding	Pathogenic
X	111401107	A	G	A111401107G	DCX	NM_001195553.2(DCX):c.588T>C:p.Arg196=	coding	Benign/Likely_benign
X	111401108	C	T	C111401108T	DCX	NM_001195553.2(DCX):c.587G>A:p.Arg196His	coding	Pathogenic
X	111401109	G	A	G111401109A	DCX	NM_001195553.2(DCX):c.586C>T:p.Arg196Cys	coding	Pathogenic/Likely_pathogenic
X	111401109	G	C	G111401109C	DCX	NM_001195553.2(DCX):c.586C>G:p.Arg196Gly	coding	Pathogenic
X	111401109	G	T	G111401109T	DCX	NM_001195553.2(DCX):c.586C>A:p.Arg196Ser	coding	Pathogenic
X	111401121	G	A	G111401121A	DCX	NM_001195553.2(DCX):c.574C>T:p.Arg192Trp	coding	Pathogenic
X	111401123	G	C	G111401123C	DCX	NM_001195553.2(DCX):c.572C>G:p.Pro191Arg	coding	Pathogenic
X	111401138	C	A	C111401138A	DCX	NM_001195553.2(DCX):c.557G>T:p.Arg186Leu	coding	Pathogenic
X	111401139	G	A	G111401139A	DCX	NM_001195553.2(DCX):c.556C>T:p.Arg186Cys	coding	Pathogenic
X	111401151	C	A	C111401151A	DCX	NM_001195553.2(DCX):c.544G>T:p.Val182Phe	coding	Pathogenic
X	111401157	T	C	T111401157C	DCX	NM_001195553.2(DCX):c.538A>G:p.Lys180Glu	coding	Pathogenic
X	111401162	C	A	C111401162A	DCX	NM_001195553.2(DCX):c.533G>T:p.Arg178Leu	coding	Pathogenic
X	111401163	G	A	G111401163A	DCX	NM_001195553.2(DCX):c.532C>T:p.Arg178Cys	coding	Pathogenic
X	111401163	G	C	G111401163C	DCX	NM_001195553.2(DCX):c.532C>G:p.Arg178Gly	coding	Pathogenic
X	111401175	T	C	T111401175C	DCX	NM_001195553.2(DCX):c.520A>G:p.Lys174Glu	coding	Pathogenic
X	111401190	G	A	G111401190A	DCX	NM_178152.3(DCX):c.505C>T:p.Gln169Ter	coding	Pathogenic
X	111401217	G	A	G111401217A	DCX	NM_001195553.2(DCX):c.478C>T:p.Gln160Ter	coding	Pathogenic
X	111401244	T	A	T111401244A	DCX	NM_001195553.2(DCX):c.451A>T:p.Lys151Ter	coding	Pathogenic
X	111401244	T	C	T111401244C	DCX	NM_001195553.2(DCX):c.451A>G:p.Lys151Glu	coding	Pathogenic
X	111401282	T	C	T111401282C	DCX	NM_001195553.2(DCX):c.413A>G:p.Tyr138Cys	coding	Pathogenic
X	111401283	A	G	A111401283G	DCX	NM_001195553.2(DCX):c.412T>C:p.Tyr138His	coding	Pathogenic
X	111401286	C	A	C111401286A	DCX	NM_001195553.2(DCX):c.409G>T:p.Glu137Ter	coding	Pathogenic
X	111401309	G	A	G111401309A	DCX	NM_001195553.2(DCX):c.386C>T:p.Ser129Leu	coding	Pathogenic
X	111401322	A	G	A111401322G	DCX	NM_001195553.2(DCX):c.373T>C:p.Tyr125His	coding	Pathogenic
X	111410035	C	T	C111410035T	DCX	NM_001195553.2(DCX):c.364G>A:p.Gly122Arg	coding	Pathogenic
X	111410060	G	T	G111410060T	DCX	NM_001195553.2(DCX):c.339C>A:p.Ile113=	coding	Benign
X	111410089	T	A	T111410089A	DCX	NM_001195553.2(DCX):c.310A>T:p.Ile104Phe	coding	Pathogenic
X	111410094	C	T	C111410094T	DCX	NM_001195553.2(DCX):c.305G>A:p.Arg102His	coding	Pathogenic/Likely_pathogenic
X	111410095	G	A	G111410095A	DCX	NM_001195553.2(DCX):c.304C>T:p.Arg102Cys	coding	Pathogenic
X	111410095	G	C	G111410095C	DCX	NM_178152.3(DCX):c.304C>G:p.Arg102Gly	coding	Pathogenic
X	111410098	C	T	C111410098T	DCX	NM_001195553.2(DCX):c.301G>A:p.Val101Met	coding	Pathogenic
X	111410100	C	A	C111410100A	DCX	NM_001195553.2(DCX):c.299G>T:p.Gly100Val	coding	Pathogenic
X	111410109	A	C	A111410109C	DCX	NM_001195553.2(DCX):c.290T>G:p.Leu97Arg	coding	Pathogenic
X	111410119	T	C	T111410119C	DCX	NM_001195553.2(DCX):c.280A>G:p.Asn94Asp	coding	Pathogenic
X	111410127	A	G	A111410127G	DCX	NM_001195553.2(DCX):c.272T>C:p.Leu91Pro	coding	Pathogenic
X	111410133	C	G	C111410133G	DCX	NM_001195553.2(DCX):c.266G>C:p.Arg89Pro	coding	Pathogenic
X	111410134	G	A	G111410134A	DCX	NM_001195553.2(DCX):c.265C>T:p.Arg89Ter	coding	Pathogenic
X	111410134	G	C	G111410134C	DCX	NM_178152.3(DCX):c.265C>G:p.Arg89Gly	coding	Pathogenic
X	111410166	C	A	C111410166A	DCX	NM_001195553.2(DCX):c.233G>T:p.Arg78Leu	coding	Pathogenic
X	111410166	C	T	C111410166T	DCX	NM_178152.3(DCX):c.233G>A:p.Arg78His	coding	Pathogenic
X	111410167	G	A	G111410167A	DCX	NM_001195553.2(DCX):c.232C>T:p.Arg78Cys	coding	Pathogenic
X	111410173	G	C	G111410173C	DCX	NM_001195553.2(DCX):c.226C>G:p.Arg76Gly	coding	Pathogenic
X	111410181	G	A	G111410181A	DCX	NM_001195553.2(DCX):c.218C>T:p.Ser73Phe	coding	Pathogenic
X	111410188	C	A	C111410188A	DCX	NM_001195553.2(DCX):c.211G>T:p.Ala71Ser	coding	Pathogenic
X	111410188	C	T	C111410188T	DCX	NM_001195553.2(DCX):c.211G>A:p.Ala71Thr	coding	Pathogenic
X	111410189	G	T	G111410189T	DCX	NM_001195553.2(DCX):c.210C>A:p.Tyr70Ter	coding	Pathogenic
X	111410207	G	C	G111410207C	DCX	NM_178152.3(DCX):c.192C>G:p.Tyr64Ter	coding	Pathogenic
X	111410217	C	T	C111410217T	DCX	NM_001195553.2(DCX):c.182G>A:p.Gly61Glu	coding	Pathogenic
X	111410223	C	A	C111410223A	DCX	NM_001195553.2(DCX):c.176G>T:p.Arg59Leu	coding	Pathogenic
X	111410223	C	T	C111410223T	DCX	NM_001195553.2(DCX):c.176G>A:p.Arg59His	coding	Pathogenic
X	111410249	C	A	C111410249A	DCX	NM_001195553.2(DCX):c.150G>T:p.Lys50Asn	coding	Pathogenic
X	111410260	T	G	T111410260G	DCX	NM_001195553.2(DCX):c.139A>C:p.Ser47Arg	coding	Pathogenic
X	111410269	G	A	G111410269A	DCX	NM_001195553.2(DCX):c.130C>T:p.Gln44Ter	coding	Pathogenic
X	111410271	A	G	A111410271G	DCX	NM_001195553.2(DCX):c.128T>C:p.Leu43Ser	coding	Pathogenic
X	111410284	G	A	G111410284A	DCX	NM_001195553.2(DCX):c.115C>T:p.Arg39Ter	coding	Pathogenic
X	111410304	C	T	C111410304T	DCX	NM_001195553.2(DCX):c.95G>A:p.Ser32Asn	coding	Pathogenic
X	111410344	G	A	G111410344A	DCX	NM_001195553.2(DCX):c.55C>T:p.Arg19Ter	coding	Pathogenic
X	111410397	A	G	A111410397G	DCX	NM_001195553.2(DCX):c.2T>C:p.Met1Thr	coding	Pathogenic
X	111682158	A	G	A111682158G	ALG13	NM_001099922.3(ALG13):c.108A>G:p.Arg36=	coding	Benign/Likely_benign
X	111682233	C	T	C111682233T	ALG13	NM_001099922.3(ALG13):c.183C>T:p.Tyr61=	coding	Benign
X	111685000	A	G	A111685000G	ALG13	NM_001099922.3(ALG13):c.280A>G:p.Lys94Glu	coding	Pathogenic
X	111685040	A	G	A111685040G	ALG13	NM_001099922.3(ALG13):c.320A>G:p.Asn107Ser	coding	Pathogenic
X	111685080	T	C	T111685080C	ALG13	NM_001099922.3(ALG13):c.360T>C:p.Gly120=	coding	Benign/Likely_benign
X	111686132	A	G	A111686132G	ALG13	NM_001099922.3(ALG13):c.383+1029A>G	noncoding	Benign
X	111708022	C	T	C111708022T	ALG13	NM_001099922.3(ALG13):c.384-5C>T	noncoding	Benign/Likely_benign
X	111708281	G	A	G111708281A	ALG13	NM_001099922.3(ALG13):c.638G>A:p.Ser213Asn	coding	Benign/Likely_benign
X	111711697	A	G	A111711697G	ALG13	NM_001099922.3(ALG13):c.857A>G:p.Lys286Arg	coding	Benign
X	111713267	T	G	T111713267G	ALG13	NM_001099922.3(ALG13):c.975T>G:p.Thr325=	coding	Benign/Likely_benign
X	111713287	A	G	A111713287G	ALG13	NM_001099922.3(ALG13):c.995A>G:p.Tyr332Cys	coding	Benign
X	111718176	G	A	G111718176A	ALG13	NM_001099922.3(ALG13):c.1152G>A:p.Ala384=	coding	Benign
X	111720110	T	C	T111720110C	ALG13	NM_001099922.3(ALG13):c.1266T>C:p.Gly422=	coding	Benign
X	111720137	A	G	A111720137G	ALG13	NM_001099922.3(ALG13):c.1293A>G:p.Pro431=	coding	Benign
X	111721716	A	T	A111721716T	ALG13	NM_001099922.3(ALG13):c.1435+5A>T	noncoding	Benign
X	111723888	T	C	T111723888C	ALG13	NM_001099922.3(ALG13):c.1591T>C:p.Leu531=	coding	Benign/Likely_benign
X	111724973	A	G	A111724973G	ALG13	NM_001099922.3(ALG13):c.1641A>G:p.Gln547=	coding	Benign
X	111726922	C	T	C111726922T	ALG13	NM_001099922.3(ALG13):c.1843C>T:p.Leu615=	coding	Benign/Likely_benign
X	111727367	C	T	C111727367T	ALG13	NM_001099922.3(ALG13):c.2012C>T:p.Pro671Leu	coding	Benign
X	111727368	G	A	G111727368A	ALG13	NM_001099922.3(ALG13):c.2013G>A:p.Pro671=	coding	Benign/Likely_benign
X	111728181	A	G	A111728181G	ALG13	NM_001099922.3(ALG13):c.2248-4A>G	noncoding	Benign
X	111728206	A	G	A111728206G	ALG13	NM_001099922.3(ALG13):c.2269A>G:p.Met757Val	coding	Benign
X	111728215	G	T	G111728215T	ALG13	NM_001099922.3(ALG13):c.2278G>T:p.Ala760Ser	coding	Benign
X	111730395	G	A	G111730395A	ALG13	NM_001099922.3(ALG13):c.2369G>A:p.Gly790Glu	coding	Benign/Likely_benign
X	111730439	C	A	C111730439A	ALG13	NM_001099922.3(ALG13):c.2401+12C>A	noncoding	Benign
X	111736452	C	T	C111736452T	ALG13	NM_001099922.3(ALG13):c.2530-262C>T	noncoding	Benign
X	111736800	A	G	A111736800G	ALG13	NM_001099922.3(ALG13):c.2616A>G:p.Gln872=	coding	Benign
X	111736801	G	C	G111736801C	ALG13	NM_001099922.3(ALG13):c.2617G>C:p.Ala873Pro	coding	Benign/Likely_benign
X	111736838	T	C	T111736838C	ALG13	NM_001099922.3(ALG13):c.2654T>C:p.Ile885Thr	coding	Benign/Likely_benign
X	111736856	C	T	C111736856T	ALG13	NM_001099922.3(ALG13):c.2672C>T:p.Ser891Phe	coding	Benign
X	111744870	T	C	T111744870C	ALG13	NM_001099922.3(ALG13):c.2898T>C:p.Tyr966=	coding	Benign
X	111757622	A	G	A111757622G	ALG13	NM_001099922.3(ALG13):c.3008A>G:p.Tyr1003Cys	coding	Benign/Likely_benign
X	111757653	A	G	A111757653G	ALG13	NM_001099922.3(ALG13):c.3039A>G:p.Val1013=	coding	Benign
X	111757672	A	G	A111757672G	ALG13	NM_001099922.3(ALG13):c.3058A>G:p.Thr1020Ala	coding	Benign
X	111757707	A	G	A111757707G	ALG13	NM_001099922.3(ALG13):c.3093A>G:p.Gln1031=	coding	Benign/Likely_benign
X	111757746	G	A	G111757746A	ALG13	NM_001099922.3(ALG13):c.3132G>A:p.Ala1044=	coding	Benign
X	111759943	A	G	A111759943G	ALG13	NM_001099922.3(ALG13):c.3358A>G:p.Ile1120Val	coding	Benign/Likely_benign
X	111759984	A	G	A111759984G	ALG13	NM_001099922.3(ALG13):c.3399A>G:p.Val1133=	coding	Benign/Likely_benign
X	111759999	A	C	A111759999C	ALG13	NM_001099922.3(ALG13):c.3414A>C:p.Ter1138Tyr	coding	Benign/Likely_benign
X	111835026	G	A	G111835026A	TRPC5	NM_012471.2(TRPC5):c.1791C>T:p.Thr597=	coding	Benign
X	111912807	G	A	G111912807A	TRPC5	NM_012471.2(TRPC5):c.384C>T:p.Pro128=	coding	Benign
X	111952382	C	T	C111952382T	TRPC5	NM_012471.2(TRPC5):c.39G>A:p.Pro13=	coding	Benign
X	112779059	G	A	G112779059A	AMOT	NM_001113490.1(AMOT):c.3095C>T:p.Ala1032Val	coding	Benign
X	112779208	C	T	C112779208T	AMOT	NM_001113490.1(AMOT):c.2946G>A:p.Pro982=	coding	Benign
X	112779459	T	C	T112779459C	AMOT	NM_001113490.1(AMOT):c.2695A>G:p.Thr899Ala	coding	Benign
X	112781019	C	T	C112781019T	AMOT	NM_001113490.1(AMOT):c.2340G>A:p.Ser780=	coding	Benign
X	112809910	C	T	C112809910T	AMOT	NM_001113490.1(AMOT):c.1614G>A:p.Ser538=	coding	Benign
X	112811385	T	C	T112811385C	AMOT	NM_001113490.1(AMOT):c.1401A>G:p.Thr467=	coding	Benign
X	112815802	A	G	A112815802G	AMOT	NM_001113490.1(AMOT):c.948T>C:p.Ser316=	coding	Benign
X	115306318	A	G	A115306318G	LUZP4	NM_016383.5(LUZP4):c.456A>G:p.Gln152=	coding	Benign
X	115610223	C	T	C115610223T	PLS3	NM_005032.7(PLS3):c.-8-20C>T	noncoding	Benign
X	115622591	C	T	C115622591T	PLS3	NM_005032.7(PLS3):c.237+182C>T	noncoding	Benign
X	115629281	T	A	T115629281A	PLS3	NM_005032.7(PLS3):c.321T>A:p.Gly107=	coding	Benign
X	115629338	T	C	T115629338C	PLS3	NM_005032.7(PLS3):c.367+11T>C	noncoding	Benign
X	115635176	G	A	G115635176A	PLS3	NM_005032.7(PLS3):c.748+130G>A	noncoding	Benign
X	115640193	C	T	C115640193T	PLS3	NM_005032.7(PLS3):c.892-215C>T	noncoding	Benign
X	115645079	T	C	T115645079C	PLS3	NM_005032.7(PLS3):c.1242T>C:p.Pro414=	coding	Benign
X	115645753	C	A	C115645753A	PLS3	NM_005032.7(PLS3):c.1263-319C>A	noncoding	Benign
X	115646103	T	C	T115646103C	PLS3	NM_005032.7(PLS3):c.1294T>C:p.Leu432=	coding	Benign
X	115646203	C	T	C115646203T	PLS3	NM_005032.7(PLS3):c.1377+17C>T	noncoding	Benign
X	115646404	A	G	A115646404G	PLS3	NM_005032.7(PLS3):c.1380A>G:p.Leu460=	coding	Benign
X	115646617	T	C	T115646617C	PLS3	NM_005032.7(PLS3):c.1511+82T>C	noncoding	Benign
X	116172342	G	T	G116172342T	AGTR2	NM_000686.5(AGTR2):c.62G>T:p.Gly21Val	coding	Benign/Likely_benign
X	116172658	G	A	G116172658A	AGTR2	NM_000686.5(AGTR2):c.378G>A:p.Leu126=	coding	Benign
X	116172778	T	C	T116172778C	AGTR2	NM_000686.5(AGTR2):c.498T>C:p.Leu166=	coding	Benign
X	116172971	T	C	T116172971C	AGTR2	NM_000686.5(AGTR2):c.691T>C:p.Tyr231His	coding	Benign
X	116173023	G	A	G116173023A	AGTR2	NM_000686.5(AGTR2):c.743G>A:p.Arg248Lys	coding	Benign
X	116173291	T	A	T116173291A	AGTR2	NM_000686.5(AGTR2):c.1011T>A:p.Ile337=	coding	Benign
X	116442796	A	G	A116442796G	SLC6A14	NM_007231.5(SLC6A14):c.456A>G:p.Pro152=	coding	Benign
X	116445006	A	G	A116445006G	SLC6A14	NM_007231.5(SLC6A14):c.745A>G:p.Ile249Val	coding	Benign
X	116451510	A	G	A116451510G	SLC6A14	NM_007231.5(SLC6A14):c.999A>G:p.Leu333=	coding	Benign
X	116451585	C	T	C116451585T	SLC6A14	NM_007231.5(SLC6A14):c.1074C>T:p.Ser358=	coding	Benign
X	116454974	T	C	T116454974C	SLC6A14	NM_007231.5(SLC6A14):c.1405-3T>C	noncoding	Benign
X	117909563	C	T	C117909563T	KLHL13	NM_033495.3(KLHL13):c.1104G>A:p.Glu368=	coding	Benign
X	117909608	C	G	C117909608G	KLHL13	NM_033495.3(KLHL13):c.1059G>C:p.Leu353=	coding	Benign
X	117909941	G	A	G117909941A	KLHL13	NM_033495.3(KLHL13):c.726C>T:p.Phe242=	coding	Benign
X	118546056	G	C	G118546056C	DOCK11	NM_144658.3(DOCK11):c.498G>C:p.Val166=	coding	Benign
X	118566065	C	T	C118566065T	DOCK11	NM_144658.3(DOCK11):c.754C>T:p.Leu252=	coding	Benign
X	118605272	A	G	A118605272G	DOCK11	NM_144658.3(DOCK11):c.2597A>G:p.Gln866Arg	coding	Benign
X	118615707	T	C	T118615707C	DOCK11	NM_144658.3(DOCK11):c.3288T>C:p.Val1096=	coding	Benign
X	118628156	T	C	T118628156C	DOCK11	NM_144658.3(DOCK11):c.3665-7T>C	noncoding	Benign
X	118676003	A	G	A118676003G	DOCK11	NM_144658.3(DOCK11):c.5267A>G:p.Lys1756Arg	coding	Benign
X	118773934	C	T	C118773934T	IL13RA1	NM_001560.3(IL13RA1):c.1065C>T:p.Ile355=	coding	Benign
X	118776517	A	G	A118776517G	IL13RA1	NM_001560.3(IL13RA1):c.1191+6A>G	noncoding	Benign
X	118825263	C	T	C118825263T	ZCCHC12	NM_173798.4(ZCCHC12):c.19C>T:p.Arg7Cys	coding	Benign
X	118826423	C	A	C118826423A	ZCCHC12	NM_173798.4(ZCCHC12):c.1179C>A:p.Gly393=	coding	Benign
X	119087808	C	T	C119087808T	KIAA1210	NM_020721.1(KIAA1210):c.3422G>A:p.Arg1141Gln	coding	Benign
X	119088327	T	C	T119088327C	KIAA1210	NM_020721.1(KIAA1210):c.2903A>G:p.Lys968Arg	coding	Benign
X	119088638	A	T	A119088638T	KIAA1210	NM_020721.1(KIAA1210):c.2592T>A:p.Asp864Glu	coding	Benign
X	119094105	G	A	G119094105A	KIAA1210	NM_020721.1(KIAA1210):c.1267-9C>T	noncoding	Benign
X	119096546	C	T	C119096546T	KIAA1210	NM_020721.1(KIAA1210):c.1214G>A:p.Arg405His	coding	Benign
X	119236507	G	A	G119236507A	PGRMC1	NM_006667.5(PGRMC1):c.144G>A:p.Gly48=	coding	Benign
X	119574743	G	A	G119574743A	UBE2A	NM_003336.4(UBE2A):c.32G>A:p.Arg11Gln	coding	Pathogenic
X	119574896	C	T	C119574896T	UBE2A	NM_003336.4(UBE2A):c.45-5C>T	noncoding	Benign
X	119574923	G	A	G119574923A	UBE2A	NM_003336.4(UBE2A):c.67G>A:p.Gly23Arg	coding	Pathogenic
X	119574964	G	A	G119574964A	UBE2A	NM_003336.4(UBE2A):c.108G>A:p.Trp36Ter	coding	Pathogenic
X	119574983	T	C	T119574983C	UBE2A	NM_003336.4(UBE2A):c.125+2T>C	noncoding	Pathogenic
X	119582667	A	G	A119582667G	UBE2A	NM_003336.4(UBE2A):c.321A>G:p.Thr107=	coding	Benign
X	119583178	C	T	C119583178T	UBE2A	NM_003336.4(UBE2A):c.382C>T:p.Gln128Ter	coding	Pathogenic
X	119589490	A	G	A119589490G	NKRF	NM_017544.5(NKRF):c.2217T>C:p.Leu739=	coding	Benign
X	119590450	G	A	G119590450A	NKRF	NM_017544.5(NKRF):c.1257C>T:p.Ser419=	coding	Benign
X	119591248	A	G	A119591248G	NKRF	NM_017544.5(NKRF):c.459T>C:p.Pro153=	coding	Benign
X	119835112	A	C	A119835112C	UPF3B	NM_080632.2(UPF3B):c.1303-85T>G	noncoding	Benign
X	119837799	T	C	T119837799C	UPF3B	NM_080632.3(UPF3B):c.1260A>G:p.Glu420=	coding	Benign
X	119837986	C	T	C119837986T	UPF3B	NM_080632.2(UPF3B):c.1073G>A:p.Arg358His	coding	Benign/Likely_benign
X	119837987	G	A	G119837987A	UPF3B	NM_080632.3(UPF3B):c.1072C>T:p.Arg358Cys	coding	Benign
X	119838819	A	G	A119838819G	UPF3B	NM_080632.2(UPF3B):c.847-292T>C	noncoding	Benign
X	119840544	A	C	A119840544C	UPF3B	NM_080632.2(UPF3B):c.846+102T>G	noncoding	Benign
X	119841119	C	T	C119841119T	UPF3B	NM_080632.2(UPF3B):c.764G>A:p.Arg255Lys	coding	Benign
X	119843293	A	C	A119843293C	UPF3B	NM_023010.3(UPF3B):c.478T>G:p.Tyr160Asp	coding	Pathogenic
X	119843369	A	G	A119843369G	UPF3B	NM_080632.2(UPF3B):c.470-68T>C	noncoding	Benign
X	119851432	G	A	G119851432A	UPF3B	NM_080632.2(UPF3B):c.370+63C>T	noncoding	Benign
X	119851635	C	T	C119851635T	UPF3B	NM_080632.2(UPF3B):c.264-34G>A	noncoding	Benign
X	119852876	G	A	G119852876A	UPF3B	NM_080632.3(UPF3B):c.53C>T:p.Thr18Ile	coding	Benign
X	119852899	C	T	C119852899T	UPF3B	NM_080632.3(UPF3B):c.30G>A:p.Lys10=	coding	Benign
X	119852941	C	G	C119852941G	UPF3B	NM_080632.2(UPF3B):c.-13G>C	noncoding	Benign
X	119853088	G	A	G119853088A	UPF3B	NC_000023.11:g.119853088G>A	noncoding	Benign
X	119853214	T	C	T119853214C	UPF3B	NC_000023.11:g.119853214T>C	noncoding	Benign
X	119870608	C	T	C119870608T	RNF113A	NM_006978.3(RNF113A):c.1006G>A:p.Asp336Asn	coding	Benign
X	119870713	G	A	G119870713A	RNF113A	NM_006978.3(RNF113A):c.901C>T:p.Gln301Ter	coding	Pathogenic
X	119871879	A	C	A119871879C	NDUFA1	NM_004541.4(NDUFA1):c.-33A>C	noncoding	Benign
X	119871908	A	G	A119871908G	NDUFA1	NM_004541.4(NDUFA1):c.-4A>G	noncoding	Benign
X	119871933	G	C	G119871933C	NDUFA1	NM_004541.4(NDUFA1):c.22G>C:p.Gly8Arg	coding	Pathogenic
X	119872005	G	C	G119872005C	NDUFA1	NM_004541.4(NDUFA1):c.94G>C:p.Gly32Arg	coding	Benign/Likely_benign
X	119873080	T	C	T119873080C	NDUFA1	NM_004541.4(NDUFA1):c.103-224T>C	noncoding	Benign
X	119873312	G	C	G119873312C	NDUFA1	NM_004541.4(NDUFA1):c.111G>C:p.Arg37Ser	coding	Pathogenic
X	119873342	G	C	G119873342C	NDUFA1	NM_004541.4(NDUFA1):c.141G>C:p.Leu47=	coding	Benign/Likely_benign
X	119925386	C	T	C119925386T	NKAP	NM_024528.4(NKAP):c.1082G>A:p.Arg361Gln	coding	Pathogenic
X	119930079	A	G	A119930079G	NKAP	NM_024528.4(NKAP):c.1010T>C:p.Ile337Thr	coding	Pathogenic
X	119930091	C	T	C119930091T	NKAP	NM_024528.4(NKAP):c.998G>A:p.Arg333Gln	coding	Pathogenic
X	119930100	C	T	C119930100T	NKAP	NM_024528.4(NKAP):c.989G>A:p.Arg330His	coding	Pathogenic
X	119943285	G	A	G119943285A	NKAP	NM_024528.4(NKAP):c.321C>T:p.Pro107=	coding	Benign
X	120109232	C	T	C120109232T	RHOXF1	NM_139282.3(RHOXF1):c.515G>A:p.Arg172His	coding	Benign
X	120115635	C	T	C120115635T	RHOXF1	NM_139282.3(RHOXF1):c.228G>A:p.Glu76=	coding	Benign
X	120254091	A	G	A120254091G	ZBTB33	NM_001184742.2(ZBTB33):c.676A>G:p.Ile226Val	coding	Benign
X	120255288	C	A	C120255288A	ZBTB33	NM_001184742.2(ZBTB33):c.1873C>A:p.Pro625Thr	coding	Benign
X	120426275	T	A	T120426275A	LAMP2	NM_001122606.1(LAMP2):c.*2209A>T	noncoding	Benign/Likely_benign
X	120426285	T	C	T120426285C	LAMP2	NM_001122606.1(LAMP2):c.*2199A>G	noncoding	Benign/Likely_benign
X	120426652	G	A	G120426652A	LAMP2	NM_001122606.1(LAMP2):c.*1832C>T	noncoding	Benign/Likely_benign
X	120426744	T	C	T120426744C	LAMP2	NM_001122606.1(LAMP2):c.*1740A>G	noncoding	Benign/Likely_benign
X	120426761	T	C	T120426761C	LAMP2	NM_001122606.1(LAMP2):c.*1723A>G	noncoding	Benign/Likely_benign
X	120427740	T	C	T120427740C	LAMP2	NM_002294.3(LAMP2):c.*3583A>G	noncoding	Benign
X	120427829	T	C	T120427829C	LAMP2	NM_002294.3(LAMP2):c.*3494A>G	noncoding	Benign
X	120427864	C	A	C120427864A	LAMP2	NM_002294.3(LAMP2):c.*3459G>T	noncoding	Benign
X	120427871	A	G	A120427871G	LAMP2	NM_002294.3(LAMP2):c.*3452T>C	noncoding	Benign
X	120428075	C	T	C120428075T	LAMP2	NM_001122606.1(LAMP2):c.*409G>A	noncoding	Benign/Likely_benign
X	120428529	A	G	A120428529G	LAMP2	NM_002294.3(LAMP2):c.*2794T>C	coding	Benign/Likely_benign
X	120428577	T	C	T120428577C	LAMP2	NM_002294.3(LAMP2):c.*2746A>G	coding	Benign/Likely_benign
X	120428748	C	G	C120428748G	LAMP2	NM_002294.3(LAMP2):c.*2575G>C	coding	Benign
X	120428805	T	C	T120428805C	LAMP2	NM_002294.3(LAMP2):c.*2518A>G	coding	Benign
X	120428863	T	C	T120428863C	LAMP2	NM_001122606.1(LAMP2):c.1094-237A>G	coding	Benign/Likely_benign
X	120428928	T	C	T120428928C	LAMP2	NM_001122606.1(LAMP2):c.1094-302A>G	coding	Benign/Likely_benign
X	120429062	T	C	T120429062C	LAMP2	NM_001122606.1(LAMP2):c.1094-436A>G	coding	Benign/Likely_benign
X	120429128	A	G	A120429128G	LAMP2	NM_001122606.1(LAMP2):c.1094-502T>C	coding	Benign/Likely_benign
X	120429706	G	A	G120429706A	LAMP2	NM_001122606.1(LAMP2):c.1094-1080C>T	coding	Benign/Likely_benign
X	120429734	T	C	T120429734C	LAMP2	NM_001122606.1(LAMP2):c.1094-1108A>G	coding	Benign/Likely_benign
X	120430009	A	G	A120430009G	LAMP2	NM_001122606.1(LAMP2):c.1094-1383T>C	coding	Benign/Likely_benign
X	120430080	T	C	T120430080C	LAMP2	NM_002294.3(LAMP2):c.*1243A>G	coding	Benign
X	120430227	A	G	A120430227G	LAMP2	NM_001122606.1(LAMP2):c.1094-1601T>C	coding	Benign/Likely_benign
X	120430252	C	A	C120430252A	LAMP2	NM_001122606.1(LAMP2):c.1094-1626G>T	coding	Benign/Likely_benign
X	120430837	T	C	T120430837C	LAMP2	NM_001122606.1(LAMP2):c.1094-2211A>G	coding	Benign/Likely_benign
X	120431026	T	G	T120431026G	LAMP2	NM_001122606.1(LAMP2):c.1094-2400A>C	coding	Benign/Likely_benign
X	120431118	G	A	G120431118A	LAMP2	NM_001122606.1(LAMP2):c.1094-2492C>T	coding	Benign/Likely_benign
X	120431365	A	G	A120431365G	LAMP2	NM_001122606.1(LAMP2):c.1094-2739T>C	coding	Benign/Likely_benign
X	120439141	G	A	G120439141A	LAMP2	NM_002294.3(LAMP2):c.1093+2589C>T	coding	Benign/Likely_benign
X	120439280	C	T	C120439280T	LAMP2	NM_002294.3(LAMP2):c.1093+2450G>A	coding	Benign/Likely_benign
X	120441729	C	T	C120441729T	LAMP2	NM_002294.3(LAMP2):c.1093+1G>A	noncoding	Pathogenic
X	120441810	G	C	G120441810C	LAMP2	NM_013995.2(LAMP2):c.1013C>G:p.Ser338Ter	coding	Pathogenic
X	120441861	C	T	C120441861T	LAMP2	NM_013995.2(LAMP2):c.962G>A:p.Trp321Ter	coding	Pathogenic
X	120441862	A	G	A120441862G	LAMP2	NM_013995.2(LAMP2):c.961T>C:p.Trp321Arg	coding	Pathogenic
X	120441896	T	C	T120441896C	LAMP2	NM_013995.2(LAMP2):c.929-2A>G	noncoding	Pathogenic
X	120441899	A	G	A120441899G	LAMP2	NM_013995.2(LAMP2):c.929-5T>C	noncoding	Benign
X	120442187	A	G	A120442187G	LAMP2	NM_013995.2(LAMP2):c.929-293T>C	noncoding	Benign
X	120442354	T	C	T120442354C	LAMP2	NM_013995.2(LAMP2):c.928+245A>G	noncoding	Benign
X	120442599	C	T	C120442599T	LAMP2	NM_002294.3(LAMP2):c.928G>A:p.Val310Ile	coding	Pathogenic
X	120442600	G	A	G120442600A	LAMP2	NM_002294.3(LAMP2):c.927C>T:p.Ser309=	coding	Benign/Likely_benign
X	120442650	G	A	G120442650A	LAMP2	NM_002294.3(LAMP2):c.877C>T:p.Arg293Ter	coding	Pathogenic
X	120442650	G	T	G120442650T	LAMP2	NM_013995.2(LAMP2):c.877C>A:p.Arg293=	coding	Benign/Likely_benign
X	120442783	G	A	G120442783A	LAMP2	NM_013995.2(LAMP2):c.865-121C>T	noncoding	Benign
X	120442883	T	A	T120442883A	LAMP2	NM_013995.2(LAMP2):c.865-221A>T	noncoding	Benign
X	120446300	C	G	C120446300G	LAMP2	NM_013995.2(LAMP2):c.864+5G>C	noncoding	Pathogenic
X	120446303	A	G	A120446303G	LAMP2	NM_013995.2(LAMP2):c.864+2T>C	noncoding	Pathogenic
X	120446304	C	A	C120446304A	LAMP2	NM_002294.3(LAMP2):c.864+1G>T	noncoding	Pathogenic
X	120446304	C	T	C120446304T	LAMP2	NM_013995.2(LAMP2):c.864+1G>A	noncoding	Pathogenic
X	120446326	A	C	A120446326C	LAMP2	NM_013995.2(LAMP2):c.843T>G:p.Tyr281Ter	coding	Pathogenic
X	120446374	G	T	G120446374T	LAMP2	NM_013995.2(LAMP2):c.795C>A:p.Cys265Ter	coding	Pathogenic/Likely_pathogenic
X	120446414	A	C	A120446414C	LAMP2	NM_002294.3(LAMP2):c.755T>G:p.Ile252Ser	coding	Benign/Likely_benign
X	120446419	T	G	T120446419G	LAMP2	NM_002294.3(LAMP2):c.750A>C:p.Ser250=	coding	Benign
X	120447830	G	A	G120447830A	LAMP2	NM_002294.3(LAMP2):c.741+11C>T	noncoding	Benign
X	120447840	C	T	C120447840T	LAMP2	NM_013995.2(LAMP2):c.741+1G>A	noncoding	Pathogenic
X	120447864	G	A	G120447864A	LAMP2	NM_013995.2(LAMP2):c.718C>T:p.Gln240Ter	coding	Pathogenic
X	120447886	A	T	A120447886T	LAMP2	NM_013995.2(LAMP2):c.696T>A:p.Cys232Ter	coding	Pathogenic
X	120449006	G	A	G120449006A	LAMP2	NM_013995.2(LAMP2):c.520C>T:p.Gln174Ter	coding	Pathogenic
X	120449022	G	A	G120449022A	LAMP2	NM_013995.2(LAMP2):c.504C>T:p.Tyr168=	coding	Benign/Likely_benign
X	120449086	A	T	A120449086T	LAMP2	NM_013995.2(LAMP2):c.440T>A:p.Leu147Ter	coding	Pathogenic
X	120449238	A	C	A120449238C	LAMP2	NM_013995.2(LAMP2):c.398-110T>G	noncoding	Benign
X	120455454	C	T	C120455454T	LAMP2	NM_002294.3(LAMP2):c.300G>A:p.Ala100=	coding	Benign
X	120455460	C	T	C120455460T	LAMP2	NM_002294.3(LAMP2):c.294G>A:p.Trp98Ter	coding	Pathogenic
X	120455461	C	T	C120455461T	LAMP2	NM_002294.3(LAMP2):c.293G>A:p.Trp98Ter	coding	Pathogenic
X	120456650	C	T	C120456650T	LAMP2	NM_002294.3(LAMP2):c.183+1G>A	noncoding	Pathogenic
X	120456678	T	A	T120456678A	LAMP2	NM_002294.3(LAMP2):c.156A>T:p.Val52=	coding	Benign/Likely_benign
X	120456696	C	T	C120456696T	LAMP2	NM_013995.2(LAMP2):c.138G>A:p.Trp46Ter	coding	Pathogenic
X	120456697	C	T	C120456697T	LAMP2	NM_013995.2(LAMP2):c.137G>A:p.Trp46Ter	coding	Pathogenic
X	120456770	C	G	C120456770G	LAMP2	NM_013995.2(LAMP2):c.65-1G>C	coding	Pathogenic/Likely_pathogenic
X	120456771	T	C	T120456771C	LAMP2	NM_002294.3(LAMP2):c.65-2A>G	noncoding	Pathogenic
X	120456781	T	A	T120456781A	LAMP2	NM_013995.2(LAMP2):c.65-12A>T	noncoding	Benign
X	120457083	C	T	C120457083T	LAMP2	NM_013995.2(LAMP2):c.65-314G>A	noncoding	Benign
X	120469104	A	T	A120469104T	LAMP2	NM_013995.2(LAMP2):c.64+2T>A	noncoding	Pathogenic
X	120469105	C	G	C120469105G	LAMP2	NM_002294.3(LAMP2):c.64+1G>C	noncoding	Pathogenic
X	120469196	G	A	G120469196A	LAMP2	NM_013995.2(LAMP2):c.-27C>T	noncoding	Benign
X	120469202	G	A	G120469202A	LAMP2	NM_013995.2(LAMP2):c.-33C>T	noncoding	Benign
X	120526815	C	T	C120526815T	CUL4B	NM_003588.3(CUL4B):c.2688G>A:p.Arg896=	coding	Benign
X	120534601	A	C	A120534601C	CUL4B	NM_003588.3(CUL4B):c.2215-15T>G	noncoding	Benign
X	120537011	C	T	C120537011T	CUL4B	NM_001079872.2(CUL4B):c.1962G>A:p.Pro654=	coding	Benign
X	120538205	G	A	G120538205A	CUL4B	NM_003588.3(CUL4B):c.1911C>T:p.Cys637=	coding	Benign/Likely_benign
X	120538659	C	A	C120538659A	CUL4B	NM_003588.3(CUL4B):c.1906+1G>T	noncoding	Pathogenic
X	120539349	G	A	G120539349A	CUL4B	NM_003588.3(CUL4B):c.1714C>T:p.Arg572Cys	coding	Pathogenic
X	120541694	G	A	G120541694A	CUL4B	NM_003588.3(CUL4B):c.1405C>T:p.Arg469Ter	coding	Pathogenic
X	120542951	C	T	C120542951T	CUL4B	NM_003588.3(CUL4B):c.1378+15G>A	noncoding	Benign
X	120544122	C	A	C120544122A	CUL4B	NM_003588.3(CUL4B):c.1219G>T:p.Glu407Ter	coding	Pathogenic
X	120544179	G	A	G120544179A	CUL4B	NM_003588.3(CUL4B):c.1162C>T:p.Arg388Ter	coding	Pathogenic
X	120545519	T	C	T120545519C	CUL4B	NM_003588.3(CUL4B):c.901-2A>G	noncoding	Pathogenic
X	120546628	G	A	G120546628A	CUL4B	NM_003588.3(CUL4B):c.831-12C>T	noncoding	Benign
X	120546951	C	T	C120546951T	CUL4B	NM_003588.3(CUL4B):c.830+185G>A	noncoding	Benign
X	120547191	G	A	G120547191A	CUL4B	NM_003588.3(CUL4B):c.775C>T:p.Gln259Ter	coding	Pathogenic
X	120557736	T	C	T120557736C	CUL4B	NM_003588.3(CUL4B):c.726+188A>G	noncoding	Benign
X	120559782	C	T	C120559782T	CUL4B	NM_003588.3(CUL4B):c.610+301G>A	noncoding	Benign
X	120560544	G	A	G120560544A	CUL4B	NM_003588.3(CUL4B):c.149C>T:p.Pro50Leu	coding	Pathogenic
X	120574553	C	T	C120574553T	CUL4B	NM_003588.3(CUL4B):c.65G>A:p.Gly22Asp	coding	Benign/Likely_benign
X	120606129	G	A	G120606129A	MCTS1	NM_014060.3(MCTS1):c.215G>A:p.Arg72Lys	coding	Benign
X	120626590	A	G	A120626590G	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.577T>C:p.Ser193Pro	coding	Pathogenic
X	120626627	A	C	A120626627C	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.540T>G:p.Tyr180Ter	coding	Pathogenic
X	120626713	C	T	C120626713T	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.454G>A:p.Glu152Lys	coding	Pathogenic
X	120626739	G	A	G120626739A	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.428C>T:p.Ala143Val	coding	Benign
X	120626865	C	T	C120626865T	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.302G>A:p.Ser101Asn	coding	Benign
X	120626965	G	A	G120626965A	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.202C>T:p.Arg68Ter	coding	Pathogenic
X	120627097	T	C	T120627097C	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.70A>G:p.Met24Val	coding	Benign
X	120627164	C	G	C120627164G	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.3G>C:p.Met1Ile	coding	Pathogenic
X	121047778	C	A	C121047778A	GLUD2	NM_012084.4(GLUD2):c.94C>A:p.Arg32=	coding	Benign
X	121048925	A	G	A121048925G	GLUD2	NM_012084.4(GLUD2):c.1241A>G:p.Asp414Gly	coding	Benign
X	121049176	T	G	T121049176G	GLUD2	NM_012084.4(GLUD2):c.1492T>G:p.Ser498Ala	coding	Pathogenic
X	123184550	G	A	G123184550A	GRIA3	NM_007325.5(GRIA3):c.15G>A:p.Lys5=	coding	Benign
X	123185881	T	C	T123185881C	GRIA3	NM_007325.5(GRIA3):c.159T>C:p.Phe53=	coding	Benign/Likely_benign
X	123253424	C	T	C123253424T	GRIA3	NM_007325.5(GRIA3):c.390C>T:p.Pro130=	coding	Benign
X	123403038	T	C	T123403038C	GRIA3	NM_007325.5(GRIA3):c.1125T>C:p.Tyr375=	coding	Benign
X	123403094	G	A	G123403094A	GRIA3	NM_007325.5(GRIA3):c.1181G>A:p.Arg394Gln	coding	Benign/Likely_benign
X	123403426	T	C	T123403426C	GRIA3	NM_007325.5(GRIA3):c.1200T>C:p.Asn400=	coding	Benign
X	123404854	T	C	T123404854C	GRIA3	NM_007325.5(GRIA3):c.1440T>C:p.Tyr480=	coding	Benign/Likely_benign
X	123417394	T	A	T123417394A	GRIA3	NM_007325.5(GRIA3):c.1501-8T>A	noncoding	Benign
X	123417673	G	A	G123417673A	GRIA3	NM_007325.5(GRIA3):c.1772G>A:p.Arg591His	coding	Benign
X	123427951	G	A	G123427951A	GRIA3	NM_007325.5(GRIA3):c.1888G>A:p.Gly630Arg	coding	Pathogenic
X	123427951	G	C	G123427951C	GRIA3	NM_007325.5(GRIA3):c.1888G>C:p.Gly630Arg	coding	Pathogenic
X	123427954	C	A	C123427954A	GRIA3	NM_007325.5(GRIA3):c.1891C>A:p.Arg631Ser	coding	Pathogenic
X	123428027	T	C	T123428027C	GRIA3	NM_007325.5(GRIA3):c.1964T>C:p.Phe655Ser	coding	Pathogenic
X	123464905	T	C	T123464905C	GRIA3	NM_007325.5(GRIA3):c.2117T>C:p.Met706Thr	coding	Pathogenic
X	123480065	C	T	C123480065T	GRIA3	NM_007325.5(GRIA3):c.2327C>T:p.Thr776Met	coding	Pathogenic
X	123482856	G	A	G123482856A	GRIA3	NM_007325.5(GRIA3):c.2497G>A:p.Gly833Arg	coding	Pathogenic
X	123610951	C	T	C123610951T	THOC2	NM_001081550.2(THOC2):c.4767G>A:p.Ser1589=	coding	Benign
X	123614042	T	A	T123614042A	THOC2	NM_001081550.2(THOC2):c.4449+10A>T	noncoding	Benign
X	123614163	T	C	T123614163C	THOC2	NM_001081550.2(THOC2):c.4338A>G:p.Pro1446=	coding	Benign
X	123620973	G	A	G123620973A	THOC2	NM_001081550.2(THOC2):c.4217-8C>T	noncoding	Benign
X	123621158	C	T	C123621158T	THOC2	NM_001081550.2(THOC2):c.4215G>A:p.Arg1405=	coding	Benign
X	123621328	C	T	C123621328T	THOC2	NM_001081550.2(THOC2):c.4045G>A:p.Ala1349Thr	coding	Benign
X	123623290	G	A	G123623290A	THOC2	NM_001081550.2(THOC2):c.3504-7C>T	noncoding	Benign
X	123623864	T	C	T123623864C	THOC2	NM_001081550.2(THOC2):c.3426A>G:p.Gln1142=	coding	Benign
X	123624610	G	A	G123624610A	THOC2	NM_001081550.2(THOC2):c.3117C>T:p.Tyr1039=	coding	Benign
X	123625935	A	G	A123625935G	THOC2	NM_001081550.2(THOC2):c.3034T>C:p.Ser1012Pro	coding	Pathogenic
X	123627713	T	C	T123627713C	THOC2	NM_001081550.2(THOC2):c.2737A>G:p.Ile913Val	coding	Benign
X	123631770	A	G	A123631770G	THOC2	NM_001081550.2(THOC2):c.2399T>C:p.Ile800Thr	coding	Pathogenic
X	123631814	T	A	T123631814A	THOC2	NM_001081550.2(THOC2):c.2355A>T:p.Ala785=	coding	Benign
X	123632870	G	C	G123632870C	THOC2	NM_001081550.2(THOC2):c.2307C>G:p.Leu769=	coding	Benign
X	123633039	C	T	C123633039T	THOC2	NM_001081550.2(THOC2):c.2138G>A:p.Gly713Asp	coding	Pathogenic
X	123644601	T	C	T123644601C	THOC2	NM_001081550.2(THOC2):c.1635A>G:p.Thr545=	coding	Benign
X	123665715	A	G	A123665715G	THOC2	NM_001081550.2(THOC2):c.1313T>C:p.Leu438Pro	coding	Pathogenic
X	123665767	C	T	C123665767T	THOC2	NM_001081550.2(THOC2):c.1261G>A:p.Ala421Thr	coding	Benign
X	123668239	G	A	G123668239A	THOC2	NM_001081550.2(THOC2):c.937C>T:p.Leu313Phe	coding	Pathogenic
X	123712878	A	G	A123712878G	THOC2	NM_001081550.2(THOC2):c.102T>C:p.Asn34=	coding	Benign
X	123885777	G	T	G123885777T	XIAP	NM_001167.3(XIAP):c.115G>T:p.Gly39Cys	coding	Benign
X	123885938	T	C	T123885938C	XIAP	NM_001167.3(XIAP):c.276T>C:p.Phe92=	coding	Benign
X	123885971	G	A	G123885971A	XIAP	NM_001167.3(XIAP):c.309G>A:p.Thr103=	coding	Benign
X	123886014	G	T	G123886014T	XIAP	NM_001167.3(XIAP):c.352G>T:p.Glu118Ter	coding	Pathogenic
X	123886117	C	G	C123886117G	XIAP	NM_001167.3(XIAP):c.455C>G:p.Thr152Ser	coding	Benign
X	123886161	T	C	T123886161C	XIAP	NM_001167.3(XIAP):c.499T>C:p.Leu167=	coding	Benign
X	123886228	T	C	T123886228C	XIAP	NM_001167.3(XIAP):c.566T>C:p.Leu189Pro	coding	Pathogenic
X	123886257	C	T	C123886257T	XIAP	NM_001167.3(XIAP):c.595C>T:p.Gln199Ter	coding	Pathogenic
X	123886270	G	A	G123886270A	XIAP	NM_001167.3(XIAP):c.608G>A:p.Cys203Tyr	coding	Pathogenic
X	123886326	C	T	C123886326T	XIAP	NM_001167.3(XIAP):c.664C>T:p.Arg222Ter	coding	Pathogenic
X	123886374	C	T	C123886374T	XIAP	NM_001167.3(XIAP):c.712C>T:p.Arg238Ter	coding	Pathogenic
X	123886431	C	G	C123886431G	XIAP	NM_001167.3(XIAP):c.769C>G:p.Pro257Ala	coding	Benign
X	123888614	C	T	C123888614T	XIAP	NM_001167.3(XIAP):c.878-5C>T	noncoding	Benign
X	123888696	C	T	C123888696T	XIAP	NM_001167.3(XIAP):c.955C>T:p.Gln319Ter	coding	Pathogenic
X	123892724	G	A	G123892724A	XIAP	NM_001167.3(XIAP):c.1057-7G>A	noncoding	Benign
X	123900493	A	G	A123900493G	XIAP	NM_001167.3(XIAP):c.1100A>G:p.Asp367Gly	coding	Benign/Likely_benign
X	123900534	C	T	C123900534T	XIAP	NM_001167.3(XIAP):c.1141C>T:p.Arg381Ter	coding	Pathogenic
X	123900661	A	C	A123900661C	XIAP	NM_001167.4(XIAP):c.1268A>C:p.Gln423Pro	coding	Benign
X	123907095	A	T	A123907095T	XIAP	NM_001167.3(XIAP):c.1408A>T:p.Thr470Ser	coding	Benign
X	123907193	A	G	A123907193G	XIAP	NM_001167.4(XIAP):c.*12A>G	noncoding	Benign
X	123907261	G	C	G123907261C	XIAP	NM_001167.3(XIAP):c.*80G>C	noncoding	Benign
X	123907663	G	A	G123907663A	XIAP	NM_001167.3(XIAP):c.*482G>A	noncoding	Benign
X	123907760	G	A	G123907760A	XIAP	NM_001167.3(XIAP):c.*579G>A	noncoding	Benign
X	123907984	G	T	G123907984T	XIAP	NM_001167.3(XIAP):c.*803G>T	noncoding	Benign
X	123908479	G	C	G123908479C	XIAP	NM_001167.3(XIAP):c.*1298G>C	noncoding	Benign
X	123908574	G	A	G123908574A	XIAP	NM_001167.3(XIAP):c.*1393G>A	noncoding	Benign
X	123908857	T	C	T123908857C	XIAP	NM_001167.3(XIAP):c.*1676T>C	noncoding	Benign
X	123909803	G	A	G123909803A	XIAP	NM_001167.3(XIAP):c.*2622G>A	noncoding	Benign
X	123909855	A	C	A123909855C	XIAP	NM_001167.3(XIAP):c.*2674A>C	noncoding	Benign
X	123909863	T	G	T123909863G	XIAP	NM_001167.3(XIAP):c.*2682T>G	noncoding	Benign
X	123909910	C	G	C123909910G	XIAP	NM_001167.3(XIAP):c.*2729C>G	noncoding	Benign
X	123910026	C	T	C123910026T	XIAP	NM_001167.3(XIAP):c.*2845C>T	noncoding	Benign
X	123910125	C	A	C123910125A	XIAP	NM_001167.4(XIAP):c.*2944C>A	noncoding	Benign
X	123910221	G	A	G123910221A	XIAP	NM_001167.3(XIAP):c.*3040G>A	noncoding	Benign
X	123910564	T	C	T123910564C	XIAP	NM_001167.3(XIAP):c.*3383T>C	noncoding	Benign
X	123910753	A	G	A123910753G	XIAP	NM_001167.4(XIAP):c.*3572A>G	noncoding	Benign
X	123910792	C	T	C123910792T	XIAP	NM_001167.3(XIAP):c.*3611C>T	noncoding	Benign
X	123911196	A	G	A123911196G	XIAP	NM_001167.3(XIAP):c.*4015A>G	noncoding	Benign
X	123911791	C	T	C123911791T	XIAP	NM_001167.3(XIAP):c.*4610C>T	noncoding	Benign
X	123911839	C	T	C123911839T	XIAP	NM_001167.4(XIAP):c.*4658C>T	noncoding	Benign
X	123912065	C	T	C123912065T	XIAP	NM_001167.3(XIAP):c.*4884C>T	noncoding	Benign
X	123912070	T	C	T123912070C	XIAP	NM_001167.3(XIAP):c.*4889T>C	noncoding	Benign
X	123913538	G	A	G123913538A	XIAP	NM_001167.3(XIAP):c.*6357G>A	noncoding	Benign
X	123913603	T	A	T123913603A	XIAP	NM_001167.3(XIAP):c.*6422T>A	noncoding	Benign
X	123913730	C	T	C123913730T	XIAP	NM_001167.3(XIAP):c.*6549C>T	noncoding	Benign
X	123913747	G	A	G123913747A	XIAP	NM_001167.4(XIAP):c.*6566G>A	noncoding	Benign
X	124031042	C	T	C124031042T	STAG2	NM_001042750.2(STAG2):c.205C>T:p.Arg69Ter	coding	Pathogenic
X	124042619	C	T	C124042619T	STAG2	NM_001042750.2(STAG2):c.436C>T:p.Arg146Ter	coding	Pathogenic
X	124045242	G	A	G124045242A	STAG2	NM_001042750.2(STAG2):c.541G>A:p.Val181Met	coding	Benign
X	124049088	G	C	G124049088C	STAG2	NM_001042750.2(STAG2):c.893+10G>C	noncoding	Benign
X	124050272	G	A	G124050272A	STAG2	NM_001042750.2(STAG2):c.980G>A:p.Ser327Asn	coding	Pathogenic
X	124062967	C	T	C124062967T	STAG2	NM_001042750.2(STAG2):c.1704C>T:p.Ala568=	coding	Benign
X	124065932	C	T	C124065932T	STAG2	NM_001042750.2(STAG2):c.2082C>T:p.Ile694=	coding	Benign
X	124066400	G	A	G124066400A	STAG2	NM_001042750.2(STAG2):c.2229G>A:p.Trp743Ter	coding	Pathogenic
X	124083523	A	T	A124083523T	STAG2	NM_001042750.2(STAG2):c.3027A>T:p.Lys1009Asn	coding	Pathogenic
X	124083530	C	T	C124083530T	STAG2	NM_001042750.2(STAG2):c.3034C>T:p.Arg1012Ter	coding	Pathogenic
X	124086590	C	T	C124086590T	STAG2	NM_001042750.2(STAG2):c.3097C>T:p.Arg1033Ter	coding	Pathogenic
X	124090657	A	G	A124090657G	STAG2	NM_001042750.2(STAG2):c.3360A>G:p.Gln1120=	coding	Benign
X	124346297	C	T	C124346297T	SH2D1A	NM_002351.4(SH2D1A):c.-346C>T	noncoding	Benign
X	124346325	G	C	G124346325C	SH2D1A	NM_002351.4(SH2D1A):c.-318G>C	noncoding	Benign
X	124346569	T	A	T124346569A	SH2D1A	NM_002351.4(SH2D1A):c.-74T>A	noncoding	Benign
X	124346633	C	T	C124346633T	SH2D1A	NM_002351.4(SH2D1A):c.-10C>T	noncoding	Pathogenic
X	124346645	G	T	G124346645T	SH2D1A	NM_002351.4(SH2D1A):c.3G>T:p.Met1Ile	coding	Pathogenic
X	124346662	A	G	A124346662G	SH2D1A	NM_002351.4(SH2D1A):c.20A>G:p.Tyr7Cys	coding	Pathogenic
X	124346690	C	A	C124346690A	SH2D1A	NM_002351.4(SH2D1A):c.48C>A:p.Gly16=	coding	Benign/Likely_benign
X	124346690	C	T	C124346690T	SH2D1A	NM_002351.4(SH2D1A):c.48C>T:p.Gly16=	coding	Benign/Likely_benign
X	124346737	G	C	G124346737C	SH2D1A	NM_002351.4(SH2D1A):c.95G>C:p.Arg32Thr	coding	Pathogenic
X	124346784	G	C	G124346784C	SH2D1A	NM_002351.4(SH2D1A):c.137+5G>C	noncoding	Pathogenic
X	124365760	G	T	G124365760T	SH2D1A	NM_002351.4(SH2D1A):c.138-1G>T	noncoding	Pathogenic
X	124365773	C	A	C124365773A	SH2D1A	NM_002351.4(SH2D1A):c.150C>A:p.Tyr50Ter	coding	Pathogenic
X	124365786	C	T	C124365786T	SH2D1A	NM_002351.4(SH2D1A):c.163C>T:p.Arg55Ter	coding	Pathogenic
X	124365787	G	A	G124365787A	SH2D1A	NM_002351.5(SH2D1A):c.164G>A:p.Arg55Gln	coding	Pathogenic
X	124365787	G	T	G124365787T	SH2D1A	NM_002351.4(SH2D1A):c.164G>T:p.Arg55Leu	coding	Pathogenic
X	124365795	C	T	C124365795T	SH2D1A	NM_002351.4(SH2D1A):c.172C>T:p.Gln58Ter	coding	Pathogenic
X	124365815	G	A	G124365815A	SH2D1A	NM_002351.4(SH2D1A):c.192G>A:p.Trp64Ter	coding	Pathogenic
X	124370177	C	T	C124370177T	SH2D1A	NM_002351.4(SH2D1A):c.203C>T:p.Thr68Ile	coding	Pathogenic
X	124370276	C	T	C124370276T	SH2D1A	NM_002351.4(SH2D1A):c.302C>T:p.Pro101Leu	coding	Pathogenic
X	124370323	A	G	A124370323G	SH2D1A	NM_002351.4(SH2D1A):c.346+3A>G	noncoding	Benign
X	124371389	T	A	T124371389A	SH2D1A	NM_002351.4(SH2D1A):c.385T>A:p.Ter129Arg	coding	Pathogenic
X	124371603	G	A	G124371603A	SH2D1A	NM_002351.4(SH2D1A):c.*212G>A	noncoding	Benign
X	124371648	A	T	A124371648T	SH2D1A	NM_002351.4(SH2D1A):c.*257A>T	noncoding	Benign
X	124372254	T	A	T124372254A	SH2D1A	NM_002351.4(SH2D1A):c.*863T>A	noncoding	Benign
X	124372257	A	G	A124372257G	SH2D1A	NM_002351.4(SH2D1A):c.*866A>G	noncoding	Benign
X	124372491	C	A	C124372491A	SH2D1A	NM_002351.4(SH2D1A):c.*1100C>A	noncoding	Benign
X	124372712	A	G	A124372712G	SH2D1A	NM_002351.4(SH2D1A):c.*1321A>G	noncoding	Benign
X	124373080	C	A	C124373080A	SH2D1A	NM_002351.4(SH2D1A):c.*1689C>A	noncoding	Benign
X	124380755	G	A	G124380755A	TENM1	NM_014253.3(TENM1):c.7959C>T:p.Arg2653=	coding	Benign
X	124384176	G	C	G124384176C	TENM1	NM_014253.3(TENM1):c.6734C>G:p.Thr2245Ser	coding	Benign
X	124384208	C	T	C124384208T	TENM1	NM_014253.3(TENM1):c.6702G>A:p.Leu2234=	coding	Benign
X	124392226	C	T	C124392226T	TENM1	NM_014253.3(TENM1):c.5493G>A:p.Leu1831=	coding	Benign
X	124405052	C	T	C124405052T	TENM1	NM_014253.3(TENM1):c.5349G>A:p.Ser1783=	coding	Benign
X	124405073	C	T	C124405073T	TENM1	NM_014253.3(TENM1):c.5328G>A:p.Glu1776=	coding	Benign
X	124420337	G	A	G124420337A	TENM1	NM_014253.3(TENM1):c.4935C>T:p.Asn1645=	coding	Benign
X	124420481	C	T	C124420481T	TENM1	NM_014253.3(TENM1):c.4791G>A:p.Pro1597=	coding	Benign
X	124422609	T	G	T124422609G	TENM1	NM_014253.3(TENM1):c.4113A>C:p.Ala1371=	coding	Benign
X	124497045	C	T	C124497045T	TENM1	NM_014253.3(TENM1):c.3666G>A:p.Ser1222=	coding	Benign
X	124497056	T	C	T124497056C	TENM1	NM_014253.3(TENM1):c.3655A>G:p.Ile1219Val	coding	Benign
X	124520641	T	C	T124520641C	TENM1	NM_014253.3(TENM1):c.3177A>G:p.Thr1059=	coding	Benign
X	124520766	G	A	G124520766A	TENM1	NM_014253.3(TENM1):c.3052C>T:p.Pro1018Ser	coding	Benign
X	124653734	T	C	T124653734C	TENM1	NM_014253.3(TENM1):c.1218A>G:p.Ala406=	coding	Benign
X	124705032	C	T	C124705032T	TENM1	NM_014253.3(TENM1):c.996G>A:p.Leu332=	coding	Benign
X	124705161	C	T	C124705161T	TENM1	NM_014253.3(TENM1):c.867G>A:p.Ser289=	coding	Benign
X	124896132	T	C	T124896132C	TENM1	NM_014253.3(TENM1):c.327A>G:p.Thr109=	coding	Benign
X	126551472	G	A	G126551472A	DCAF12L1	NM_178470.5(DCAF12L1):c.1137C>T:p.Ala379=	coding	Benign
X	126552369	T	G	T126552369G	DCAF12L1	NM_178470.5(DCAF12L1):c.240A>C:p.Val80=	coding	Benign
X	126552372	C	G	C126552372G	DCAF12L1	NM_178470.5(DCAF12L1):c.237G>C:p.Ala79=	coding	Benign
X	128051174	A	T	A128051174T	ACTRT1	NM_138289.3(ACTRT1):c.1033T>A:p.Ser345Thr	coding	Benign
X	128051268	C	A	C128051268A	ACTRT1	NM_138289.3(ACTRT1):c.939G>T:p.Arg313Ser	coding	Benign
X	128051332	T	C	T128051332C	ACTRT1	NM_138289.3(ACTRT1):c.875A>G:p.Asn292Ser	coding	Benign
X	129471259	C	G	C129471259G	SMARCA1	NM_001282874.2(SMARCA1):c.2510G>C:p.Gly837Ala	coding	Benign
X	129481079	G	T	G129481079T	SMARCA1	NM_001282874.2(SMARCA1):c.2324C>A:p.Pro775Gln	coding	Benign
X	129496768	G	A	G129496768A	SMARCA1	NM_001282874.2(SMARCA1):c.1608C>T:p.Thr536=	coding	Benign
X	129508084	G	A	G129508084A	SMARCA1	NM_001282874.2(SMARCA1):c.823C>T:p.Arg275Cys	coding	Benign
X	129540745	C	T	C129540745T	OCRL	NM_000276.4(OCRL):c.41C>T:p.Thr14Ile	coding	Benign/Likely_benign
X	129540809	G	A	G129540809A	OCRL	NM_000276.4(OCRL):c.105G>A:p.Arg35=	coding	Benign/Likely_benign
X	129545053	C	G	C129545053G	OCRL	NM_000276.4(OCRL):c.199+16C>G	noncoding	Benign
X	129557410	C	T	C129557410T	OCRL	NM_000276.4(OCRL):c.324C>T:p.Leu108=	coding	Benign
X	129557886	G	T	G129557886T	OCRL	NM_000276.4(OCRL):c.375G>T:p.Glu125Asp	coding	Benign
X	129557953	A	G	A129557953G	OCRL	NM_000276.4(OCRL):c.439+3A>G	noncoding	Benign/Likely_benign
X	129558690	C	A	C129558690A	OCRL	NM_000276.4(OCRL):c.497C>A:p.Ser166Ter	coding	Pathogenic
X	129558833	T	A	T129558833A	OCRL	NM_000276.4(OCRL):c.561-7T>A	noncoding	Benign/Likely_benign
X	129558922	C	T	C129558922T	OCRL	NM_000276.4(OCRL):c.643C>T:p.Gln215Ter	coding	Pathogenic
X	129561251	G	A	G129561251A	OCRL	NM_000276.4(OCRL):c.897G>A:p.Met299Ile	coding	Benign
X	129561266	T	G	T129561266G	OCRL	NM_000276.4(OCRL):c.912T>G:p.Gly304=	coding	Benign
X	129562373	G	A	G129562373A	OCRL	NM_000276.4(OCRL):c.940-11G>A	noncoding	Pathogenic
X	129562444	C	T	C129562444T	OCRL	NM_000276.4(OCRL):c.1000C>T:p.Arg334Ter	coding	Pathogenic
X	129562787	G	A	G129562787A	OCRL	NM_000276.4(OCRL):c.1244+1G>A	coding	Pathogenic
X	129565818	G	A	G129565818A	OCRL	NM_000276.4(OCRL):c.1291G>A:p.Asp431Asn	coding	Benign
X	129567333	A	G	A129567333G	OCRL	NM_000276.4(OCRL):c.1436A>G:p.Tyr479Cys	coding	Pathogenic
X	129569295	C	T	C129569295T	OCRL	NM_000276.4(OCRL):c.1498C>T:p.Arg500Ter	coding	Pathogenic
X	129569296	G	A	G129569296A	OCRL	NM_000276.4(OCRL):c.1499G>A:p.Arg500Gln	coding	Pathogenic
X	129569369	C	G	C129569369G	OCRL	NM_000276.4(OCRL):c.1572C>G:p.His524Gln	coding	Pathogenic
X	129569370	A	C	A129569370C	OCRL	NM_000276.4(OCRL):c.1573A>C:p.Lys525Gln	coding	Pathogenic
X	129569373	C	T	C129569373T	OCRL	NM_000276.4(OCRL):c.1576C>T:p.Pro526Ser	coding	Pathogenic
X	129575158	C	T	C129575158T	OCRL	NM_000276.4(OCRL):c.1621C>T:p.Arg541Ter	coding	Pathogenic
X	129575896	G	A	G129575896A	OCRL	NM_000276.4(OCRL):c.1714-1G>A	noncoding	Pathogenic
X	129576344	T	A	T129576344A	OCRL	NM_000276.4(OCRL):c.1907T>A:p.Val636Glu	coding	Pathogenic
X	129576416	A	C	A129576416C	OCRL	NM_000276.4(OCRL):c.1979A>C:p.His660Pro	coding	Pathogenic
X	129576515	C	T	C129576515T	OCRL	NM_000276.4(OCRL):c.2078C>T:p.Pro693Leu	coding	Pathogenic
X	129584335	C	T	C129584335T	OCRL	NM_000276.4(OCRL):c.2116-9C>T	noncoding	Benign
X	129587039	G	T	G129587039T	OCRL	NM_000276.4(OCRL):c.2177G>T:p.Gly726Val	coding	Benign
X	129588221	C	T	C129588221T	OCRL	NM_000276.4(OCRL):c.2299C>T:p.Gln767Ter	coding	Pathogenic
X	129588933	G	C	G129588933C	OCRL	NM_000276.4(OCRL):c.2389G>C:p.Ala797Pro	coding	Pathogenic
X	129588972	C	T	C129588972T	OCRL	NM_000276.4(OCRL):c.2428C>T:p.Arg810Ter	coding	Pathogenic
X	129589008	C	T	C129589008T	OCRL	NM_000276.4(OCRL):c.2464C>T:p.Arg822Ter	coding	Pathogenic
X	129589843	A	G	A129589843G	OCRL	NM_000276.4(OCRL):c.2470-2A>G	noncoding	Pathogenic
X	129589905	C	T	C129589905T	OCRL	NM_000276.4(OCRL):c.2530C>T:p.Arg844Ter	coding	Pathogenic
X	129590137	G	A	G129590137A	OCRL	NM_000276.4(OCRL):c.2582-9G>A	noncoding	Benign
X	129590145	G	A	G129590145A	OCRL	NM_000276.4(OCRL):c.2582-1G>A	noncoding	Pathogenic
X	129590145	G	T	G129590145T	OCRL	NM_000276.4(OCRL):c.2582-1G>T	noncoding	Pathogenic
X	129590258	C	T	C129590258T	OCRL	NM_000276.4(OCRL):c.2694C>T:p.Ser898=	coding	Benign
X	129746638	T	C	T129746638C	XPNPEP2	NM_003399.6(XPNPEP2):c.447T>C:p.Pro149=	coding	Benign
X	129792765	C	T	C129792765T	SASH3	NM_018990.4(SASH3):c.730C>T:p.Arg244Cys	coding	Benign
X	129806432	C	T	C129806432T	ZDHHC9	NM_016032.4(ZDHHC9):c.1033G>A:p.Glu345Lys	coding	Benign
X	129810908	G	A	G129810908A	ZDHHC9	NM_016032.4(ZDHHC9):c.975C>T:p.Ser325=	coding	Benign/Likely_benign
X	129813668	G	A	G129813668A	ZDHHC9	NM_016032.4(ZDHHC9):c.674+9C>T	noncoding	Benign
X	129813735	T	A	T129813735A	ZDHHC9	NM_016032.4(ZDHHC9):c.626-10A>T	noncoding	Benign
X	129823664	T	C	T129823664C	ZDHHC9	NM_016032.4(ZDHHC9):c.487+15A>G	noncoding	Benign
X	129823718	G	A	G129823718A	ZDHHC9	NM_016032.4(ZDHHC9):c.448C>T:p.Pro150Ser	coding	Pathogenic
X	129823724	G	A	G129823724A	ZDHHC9	NM_016032.4(ZDHHC9):c.442C>T:p.Arg148Trp	coding	Pathogenic/Likely_pathogenic
X	129823797	C	T	C129823797T	ZDHHC9	NM_016032.4(ZDHHC9):c.369G>A:p.Pro123=	coding	Benign
X	129823812	C	G	C129823812G	ZDHHC9	NM_016032.4(ZDHHC9):c.354G>C:p.Gln118His	coding	Benign
X	129828980	C	T	C129828980T	ZDHHC9	NM_016032.4(ZDHHC9):c.328+1G>A	noncoding	Pathogenic
X	129829018	C	T	C129829018T	ZDHHC9	NM_016032.4(ZDHHC9):c.291G>A:p.Ala97=	coding	Benign
X	129829023	G	A	G129829023A	ZDHHC9	NM_016032.4(ZDHHC9):c.286C>T:p.Arg96Trp	coding	Pathogenic
X	129841769	C	T	C129841769T	ZDHHC9	NM_016032.4(ZDHHC9):c.167+10G>A	noncoding	Benign
X	129841770	G	A	G129841770A	ZDHHC9	NM_016032.4(ZDHHC9):c.167+9C>T	noncoding	Benign
X	129841774	C	G	C129841774G	ZDHHC9	NM_016032.4(ZDHHC9):c.167+5G>C	noncoding	Pathogenic
X	129911802	G	A	G129911802A	UTP14A	NM_006649.4(UTP14A):c.418G>A:p.Val140Ile	coding	Benign
X	130012586	C	T	C130012586T	BCORL1	NM_021946.4(BCORL1):c.95C>T:p.Pro32Leu	coding	Pathogenic
X	130013132	C	T	C130013132T	BCORL1	NM_021946.4(BCORL1):c.360C>T:p.Asp120=	coding	Benign
X	130013288	T	C	T130013288C	BCORL1	NM_021946.4(BCORL1):c.516T>C:p.Asn172=	coding	Benign/Likely_benign
X	130013555	G	A	G130013555A	BCORL1	NM_021946.4(BCORL1):c.783G>A:p.Ala261=	coding	Benign
X	130014218	G	A	G130014218A	BCORL1	NM_021946.4(BCORL1):c.1446G>A:p.Pro482=	coding	Benign
X	130014431	T	C	T130014431C	BCORL1	NM_021946.4(BCORL1):c.1659T>C:p.Leu553=	coding	Benign
X	130014471	C	T	C130014471T	BCORL1	NM_021946.4(BCORL1):c.1699C>T:p.Leu567=	coding	Benign
X	130014836	C	T	C130014836T	BCORL1	NM_021946.4(BCORL1):c.2064C>T:p.Val688=	coding	Benign
X	130014845	C	T	C130014845T	BCORL1	NM_021946.4(BCORL1):c.2073C>T:p.Pro691=	coding	Benign
X	130015117	T	A	T130015117A	BCORL1	NM_021946.4(BCORL1):c.2345T>A:p.Val782Glu	coding	Pathogenic
X	130015231	A	G	A130015231G	BCORL1	NM_021946.4(BCORL1):c.2459A>G:p.Asn820Ser	coding	Pathogenic
X	130015930	A	G	A130015930G	BCORL1	NM_021946.4(BCORL1):c.3158A>G:p.Lys1053Arg	coding	Benign
X	130016135	C	T	C130016135T	BCORL1	NM_021946.4(BCORL1):c.3363C>T:p.Cys1121=	coding	Benign
X	130025312	C	T	C130025312T	BCORL1	NM_021946.4(BCORL1):c.4011C>T:p.Ser1337=	coding	Benign
X	130050727	G	A	G130050727A	BCORL1	NM_021946.4(BCORL1):c.4629G>A:p.Ser1543=	coding	Benign
X	130066903	G	A	G130066903A	ELF4	NM_001421.4(ELF4):c.1810C>T:p.Arg604Cys	coding	Benign
X	130067204	C	T	C130067204T	ELF4	NM_001421.4(ELF4):c.1509G>A:p.Thr503=	coding	Benign
X	130069380	C	T	C130069380T	ELF4	NM_001421.4(ELF4):c.1107G>A:p.Ser369=	coding	Benign
X	130072318	G	A	G130072318A	ELF4	NM_001421.4(ELF4):c.440C>T:p.Ala147Val	coding	Benign
X	130129566	A	G	A130129566G	AIFM1	NM_004208.4(AIFM1):c.1833T>C:p.His611=	coding	Benign
X	130130096	C	T	C130130096T	AIFM1	NM_004208.4(AIFM1):c.1644G>A:p.Pro548=	coding	Benign/Likely_benign
X	130131419	A	G	A130131419G	AIFM1	NM_004208.4(AIFM1):c.1573+256T>C	noncoding	Benign
X	130131770	T	A	T130131770A	AIFM1	NM_004208.4(AIFM1):c.1478A>T:p.Glu493Val	coding	Pathogenic
X	130133325	T	C	T130133325C	AIFM1	NM_004208.4(AIFM1):c.1436A>G:p.Gln479Arg	coding	Pathogenic
X	130133345	A	G	A130133345G	AIFM1	NM_004208.4(AIFM1):c.1416T>C:p.Ala472=	coding	Benign
X	130133409	C	T	C130133409T	AIFM1	NM_004208.4(AIFM1):c.1352G>A:p.Arg451Gln	coding	Pathogenic
X	130133432	G	A	G130133432A	AIFM1	NM_004208.4(AIFM1):c.1329C>T:p.Tyr443=	coding	Benign/Likely_benign
X	130135805	G	C	G130135805C	AIFM1	NM_004208.4(AIFM1):c.1305+240C>G	noncoding	Benign
X	130136085	C	T	C130136085T	AIFM1	NM_004208.4(AIFM1):c.1265G>A:p.Arg422Gln	coding	Pathogenic/Likely_pathogenic
X	130136086	G	A	G130136086A	AIFM1	NM_004208.4(AIFM1):c.1264C>T:p.Arg422Trp	coding	Pathogenic/Likely_pathogenic
X	130136123	A	C	A130136123C	AIFM1	NM_004208.4(AIFM1):c.1227T>G:p.Thr409=	coding	Benign
X	130137140	C	T	C130137140T	AIFM1	NM_004208.4(AIFM1):c.1013G>A:p.Gly338Glu	coding	Pathogenic
X	130137157	T	C	T130137157C	AIFM1	NM_004208.4(AIFM1):c.996A>G:p.Gln332=	coding	Benign
X	130137199	A	T	A130137199T	AIFM1	NM_004208.4(AIFM1):c.968-14T>A	coding	Benign
X	130137543	G	A	G130137543A	AIFM1	NM_004208.4(AIFM1):c.968-358C>T	coding	Benign
X	130138545	C	T	C130138545T	AIFM1	NM_004208.4(AIFM1):c.967+48G>A	noncoding	Benign
X	130138612	G	T	G130138612T	AIFM1	NM_004208.4(AIFM1):c.948C>A:p.Ala316=	coding	Benign/Likely_benign
X	130138637	C	T	C130138637T	AIFM1	NM_004208.4(AIFM1):c.923G>A:p.Gly308Glu	coding	Pathogenic
X	130138642	G	A	G130138642A	AIFM1	NM_004208.4(AIFM1):c.918C>T:p.Ile306=	coding	Benign
X	130138649	G	A	G130138649A	AIFM1	NM_004208.4(AIFM1):c.911C>T:p.Thr304Met	coding	Benign
X	130139869	C	T	C130139869T	AIFM1	NM_004208.4(AIFM1):c.784G>A:p.Gly262Ser	coding	Pathogenic
X	130140536	T	C	T130140536C	AIFM1	NM_004208.4(AIFM1):c.778A>G:p.Thr260Ala	coding	Pathogenic
X	130140587	C	A	C130140587A	AIFM1	NM_004208.4(AIFM1):c.727G>T:p.Val243Leu	coding	Pathogenic
X	130140604	T	C	T130140604C	AIFM1	NM_004208.4(AIFM1):c.710A>G:p.Asp237Gly	coding	Pathogenic
X	130140609	C	G	C130140609G	AIFM1	NM_004208.4(AIFM1):c.705G>C:p.Gln235His	coding	Pathogenic
X	130145584	G	A	G130145584A	AIFM1	NM_004208.4(AIFM1):c.606-15C>T	noncoding	Benign
X	130147501	T	C	T130147501C	AIFM1	NM_004208.4(AIFM1):c.597A>G:p.Lys199=	coding	Benign
X	130147804	G	A	G130147804A	AIFM1	NM_004208.4(AIFM1):c.422C>T:p.Thr141Ile	coding	Pathogenic
X	130147860	T	C	T130147860C	AIFM1	NM_004208.4(AIFM1):c.366A>G:p.Glu122=	coding	Benign/Likely_benign
X	130149544	C	T	C130149544T	AIFM1	NM_004208.4(AIFM1):c.274G>A:p.Glu92Lys	coding	Benign
X	130149545	A	G	A130149545G	AIFM1	NM_004208.4(AIFM1):c.273T>C:p.Asp91=	coding	Benign
X	130149556	T	C	T130149556C	AIFM1	NM_004208.4(AIFM1):c.262A>G:p.Met88Val	coding	Benign
X	130149811	A	G	A130149811G	AIFM1	NM_004208.4(AIFM1):c.250-243T>C	noncoding	Benign
X	130156780	C	T	C130156780T	AIFM1	NM_004208.4(AIFM1):c.107-177G>A	noncoding	Benign
X	130165554	G	A	G130165554A	AIFM1	NM_004208.4(AIFM1):c.103C>T:p.Pro35Ser	coding	Benign
X	130165585	G	A	G130165585A	AIFM1	NM_004208.4(AIFM1):c.72C>T:p.Cys24=	coding	Benign/Likely_benign
X	130165603	G	C	G130165603C	AIFM1	NM_004208.4(AIFM1):c.54C>G:p.Pro18=	coding	Benign/Likely_benign
X	130165821	C	T	C130165821T	AIFM1	NM_004208.4(AIFM1):c.-165G>A	noncoding	Benign
X	130384522	G	A	G130384522A	GPR119	NM_178471.2(GPR119):c.926C>T:p.Ser309Leu	coding	Benign
X	130412739	G	A	G130412739A	RBMX2	NM_016024.4(RBMX2):c.860G>A:p.Arg287His	coding	Benign
X	130631526	A	G	A130631526G	ENOX2	NM_182314.2(ENOX2):c.1557T>C:p.Pro519=	coding	Benign
X	130656575	C	T	C130656575T	ENOX2	NM_182314.2(ENOX2):c.1216+6G>A	noncoding	Benign
X	131274771	G	A	G131274771A	IGSF1	NM_001555.5(IGSF1):c.3579C>T:p.Val1193=	coding	Benign
X	131275095	C	T	C131275095T	IGSF1	NM_001555.5(IGSF1):c.3376G>A:p.Gly1126Ser	coding	Benign
X	131275243	C	G	C131275243G	IGSF1	NM_001555.5(IGSF1):c.3228G>C:p.Met1076Ile	coding	Benign
X	131275723	A	G	A131275723G	IGSF1	NM_001555.5(IGSF1):c.2939T>C:p.Val980Ala	coding	Benign
X	131275746	C	T	C131275746T	IGSF1	NM_001555.5(IGSF1):c.2916G>A:p.Trp972Ter	coding	Pathogenic
X	131276974	G	A	G131276974A	IGSF1	NM_001555.5(IGSF1):c.2573C>T:p.Ser858Phe	coding	Pathogenic
X	131276991	A	G	A131276991G	IGSF1	NM_001555.5(IGSF1):c.2556T>C:p.Tyr852=	coding	Benign
X	131277873	A	G	A131277873G	IGSF1	NM_001555.5(IGSF1):c.2303T>C:p.Leu768Pro	coding	Pathogenic
X	131278028	C	T	C131278028T	IGSF1	NM_001555.5(IGSF1):c.2148G>A:p.Lys716=	coding	Benign
X	131278706	T	G	T131278706G	IGSF1	NM_001555.5(IGSF1):c.1796A>C:p.Asn599Thr	coding	Benign
X	131281844	T	C	T131281844C	IGSF1	NM_001555.5(IGSF1):c.1347A>G:p.Glu449=	coding	Benign
X	131281952	C	G	C131281952G	IGSF1	NM_001555.5(IGSF1):c.1247-8G>C	noncoding	Benign
X	131282506	A	C	A131282506C	IGSF1	NM_001555.5(IGSF1):c.1184T>G:p.Leu395Arg	coding	Benign
X	131282549	T	G	T131282549G	IGSF1	NM_001555.5(IGSF1):c.1141A>C:p.Asn381His	coding	Benign
X	131282984	C	T	C131282984T	IGSF1	NM_001555.5(IGSF1):c.948G>A:p.Val316=	coding	Benign
X	131283200	C	T	C131283200T	IGSF1	NM_001555.5(IGSF1):c.732G>A:p.Leu244=	coding	Benign
X	131283272	C	T	C131283272T	IGSF1	NM_001555.5(IGSF1):c.668-8G>A	noncoding	Benign
X	131285324	G	A	G131285324A	IGSF1	NM_001555.5(IGSF1):c.522C>T:p.Tyr174=	coding	Benign
X	131544249	T	A	T131544249A	OR13H1	NM_001004486.1(OR13H1):c.176T>A:p.Ile59Asn	coding	Benign
X	131544313	G	A	G131544313A	OR13H1	NM_001004486.1(OR13H1):c.240G>A:p.Gln80=	coding	Benign
X	131544966	G	A	G131544966A	OR13H1	NM_001004486.1(OR13H1):c.893G>A:p.Arg298Gln	coding	Benign
X	132054721	C	T	C132054721T	STK26	NM_016542.4(STK26):c.133C>T:p.Arg45Cys	coding	Benign
X	132071203	C	T	C132071203T	STK26	NM_016542.4(STK26):c.918C>T:p.Ser306=	coding	Benign
X	132077056	C	T	C132077056T	FRMD7	NM_194277.2(FRMD7):c.*816G>A	noncoding	Benign
X	132077207	T	A	T132077207A	FRMD7	NM_194277.2(FRMD7):c.*665A>T	noncoding	Benign
X	132077438	G	A	G132077438A	FRMD7	NM_194277.2(FRMD7):c.*434C>T	noncoding	Benign
X	132078342	C	T	C132078342T	FRMD7	NM_194277.2(FRMD7):c.1675G>A:p.Gly559Ser	coding	Benign
X	132078459	G	C	G132078459C	FRMD7	NM_194277.2(FRMD7):c.1558C>G:p.His520Asp	coding	Benign
X	132078484	A	G	A132078484G	FRMD7	NM_194277.2(FRMD7):c.1533T>C:p.Ile511=	coding	Benign
X	132078543	G	A	G132078543A	FRMD7	NM_194277.2(FRMD7):c.1474C>T:p.Pro492Ser	coding	Benign
X	132078544	C	A	C132078544A	FRMD7	NM_194277.2(FRMD7):c.1473G>T:p.Met491Ile	coding	Benign
X	132078614	C	T	C132078614T	FRMD7	NM_194277.2(FRMD7):c.1403G>A:p.Arg468His	coding	Benign
X	132078916	A	G	A132078916G	FRMD7	NM_194277.2(FRMD7):c.1101T>C:p.Asn367=	coding	Benign
X	132078935	C	A	C132078935A	FRMD7	NM_194277.2(FRMD7):c.1082G>T:p.Gly361Val	coding	Benign
X	132080001	C	T	C132080001T	FRMD7	NM_194277.2(FRMD7):c.1050+5G>A	noncoding	Pathogenic
X	132080053	G	A	G132080053A	FRMD7	NM_194277.2(FRMD7):c.1003C>T:p.Arg335Ter	coding	Pathogenic
X	132082362	C	T	C132082362T	FRMD7	NM_194277.2(FRMD7):c.905+1G>A	noncoding	Pathogenic
X	132082382	C	G	C132082382G	FRMD7	NM_194277.3(FRMD7):c.886G>C:p.Gly296Arg	coding	Pathogenic
X	132082426	G	A	G132082426A	FRMD7	NM_194277.2(FRMD7):c.842C>T:p.Ser281Leu	coding	Benign
X	132082456	C	T	C132082456T	FRMD7	NM_194277.2(FRMD7):c.812G>A:p.Cys271Tyr	coding	Pathogenic
X	132082487	G	A	G132082487A	FRMD7	NM_194277.3(FRMD7):c.781C>T:p.Arg261Ter	coding	Pathogenic
X	132084540	A	C	A132084540C	FRMD7	NM_194277.2(FRMD7):c.691T>G:p.Leu231Val	coding	Pathogenic
X	132084546	G	A	G132084546A	FRMD7	NM_194277.2(FRMD7):c.685C>T:p.Arg229Cys	coding	Pathogenic
X	132084546	G	C	G132084546C	FRMD7	NM_194277.2(FRMD7):c.685C>G:p.Arg229Gly	coding	Pathogenic
X	132085625	G	A	G132085625A	FRMD7	NM_194277.2(FRMD7):c.601C>T:p.Gln201Ter	coding	Pathogenic
X	132085670	T	C	T132085670C	FRMD7	NM_194277.2(FRMD7):c.556A>G:p.Met186Val	coding	Pathogenic
X	132085992	A	C	A132085992C	FRMD7	NM_194277.2(FRMD7):c.425T>G:p.Leu142Arg	coding	Pathogenic
X	132086029	G	A	G132086029A	FRMD7	NM_194277.2(FRMD7):c.388C>T:p.Leu130Phe	coding	Benign
X	132086045	G	A	G132086045A	FRMD7	NM_194277.2(FRMD7):c.383-11C>T	noncoding	Benign
X	132097256	A	C	A132097256C	FRMD7	NM_194277.2(FRMD7):c.284+10T>G	noncoding	Benign
X	132097265	C	T	C132097265T	FRMD7	NM_194277.3(FRMD7):c.284+1G>A	noncoding	Pathogenic
X	132097298	C	T	C132097298T	FRMD7	NM_194277.2(FRMD7):c.252G>A:p.Val84=	coding	Pathogenic
X	132099512	T	A	T132099512A	FRMD7	NM_194277.3(FRMD7):c.163-2A>T	noncoding	Pathogenic
X	132100640	A	C	A132100640C	FRMD7	NM_194277.3(FRMD7):c.134T>G:p.Leu45Ter	coding	Pathogenic
X	132100704	C	T	C132100704T	FRMD7	NM_194277.2(FRMD7):c.70G>A:p.Gly24Arg	coding	Pathogenic
X	132100705	G	A	G132100705A	FRMD7	NM_194277.2(FRMD7):c.69C>T:p.Ser23=	coding	Benign
X	132127842	C	T	C132127842T	FRMD7	NM_194277.3(FRMD7):c.3G>A:p.Met1Ile	coding	Pathogenic
X	132214186	T	G	T132214186G	RAP2C	NM_001271186.2(RAP2C):c.534A>C:p.Thr178=	coding	Benign
X	132391091	C	T	C132391091T	MBNL3	NM_018388.3(MBNL3):c.535-8G>A	noncoding	Benign
X	132708467	T	C	T132708467C	HS6ST2	NM_001077188.2(HS6ST2):c.975A>G:p.Ala325=	coding	Benign
X	132956839	C	G	C132956839G	HS6ST2	NM_001077188.2(HS6ST2):c.916G>C:p.Gly306Arg	coding	Pathogenic
X	132958282	C	A	C132958282A	HS6ST2	NM_001077188.2(HS6ST2):c.321G>T:p.Leu107=	coding	Benign
X	132958451	C	A	C132958451A	HS6ST2	NM_001077188.2(HS6ST2):c.152G>T:p.Arg51Leu	coding	Benign
X	133026133	T	C	T133026133C	USP26	NM_031907.2(USP26):c.2088A>G:p.Pro696=	coding	Benign
X	133026484	C	T	C133026484T	USP26	NM_031907.2(USP26):c.1737G>A:p.Met579Ile	coding	Benign
X	133027399	G	A	G133027399A	USP26	NM_031907.2(USP26):c.822C>T:p.Asp274=	coding	Benign
X	133303022	G	A	G133303022A	GPC4	NM_001448.3(GPC4):c.1516C>T:p.Gln506Ter	coding	Pathogenic
X	133303052	C	A	C133303052A	GPC4	NM_001448.3(GPC4):c.1486G>T:p.Glu496Ter	coding	Pathogenic
X	133536151	C	G	C133536151G	GPC3	NM_004484.3(GPC3):c.1716G>C:p.Val572=	coding	Benign
X	133536162	C	T	C133536162T	GPC3	NM_004484.3(GPC3):c.1705G>A:p.Ala569Thr	coding	Pathogenic
X	133536187	G	A	G133536187A	GPC3	NM_004484.3(GPC3):c.1680C>T:p.Ser560=	coding	Benign
X	133536226	G	A	G133536226A	GPC3	NM_004484.3(GPC3):c.1641C>T:p.Asn547=	coding	Benign
X	133536235	C	T	C133536235T	GPC3	NM_004484.3(GPC3):c.1632G>A:p.Pro544=	coding	Benign
X	133536236	G	A	G133536236A	GPC3	NM_004484.3(GPC3):c.1631C>T:p.Pro544Leu	coding	Benign
X	133536241	T	C	T133536241C	GPC3	NM_004484.3(GPC3):c.1626A>G:p.Ala542=	coding	Benign
X	133536251	C	G	C133536251G	GPC3	NM_004484.3(GPC3):c.1616G>C:p.Ser539Thr	coding	Benign
X	133596513	A	G	A133596513G	GPC3	NM_004484.3(GPC3):c.1500T>C:p.Asp500=	coding	Benign
X	133596542	C	A	C133596542A	GPC3	NM_004484.3(GPC3):c.1471G>T:p.Glu491Ter	coding	Pathogenic
X	133596587	T	C	T133596587C	GPC3	NM_004484.3(GPC3):c.1426A>G:p.Met476Val	coding	Benign
X	133661825	C	T	C133661825T	GPC3	NM_004484.3(GPC3):c.1318G>A:p.Gly440Arg	coding	Benign
X	133692368	C	A	C133692368A	GPC3	NM_004484.3(GPC3):c.1292+1G>T	noncoding	Pathogenic
X	133692374	C	T	C133692374T	GPC3	NM_004484.3(GPC3):c.1287G>A:p.Val429=	coding	Benign
X	133692376	C	T	C133692376T	GPC3	NM_001164617.2(GPC3):c.1354G>A:p.Val452Met	coding	Benign/Likely_benign
X	133692386	T	C	T133692386C	GPC3	NM_004484.3(GPC3):c.1275A>G:p.Gly425=	coding	Benign
X	133692392	C	T	C133692392T	GPC3	NM_004484.4(GPC3):c.1269G>A:p.Trp423Ter	coding	Pathogenic
X	133692407	G	A	G133692407A	GPC3	NM_004484.3(GPC3):c.1254C>T:p.Asn418=	coding	Benign
X	133692413	C	T	C133692413T	GPC3	NM_004484.4(GPC3):c.1248G>A:p.Ala416=	coding	Benign
X	133692429	C	A	C133692429A	GPC3	NM_004484.3(GPC3):c.1232G>T:p.Ser411Ile	coding	Benign
X	133692502	A	G	A133692502G	GPC3	NM_001164617.2(GPC3):c.1236-8T>C	noncoding	Benign/Likely_benign
X	133699899	T	C	T133699899C	GPC3	NM_004484.3(GPC3):c.1162A>G:p.Arg388Gly	coding	Benign
X	133699901	C	T	C133699901T	GPC3	NM_004484.3(GPC3):c.1160G>A:p.Arg387Gln	coding	Benign
X	133699902	G	A	G133699902A	GPC3	NM_001164617.2(GPC3):c.1228C>T:p.Arg410Ter	coding	Pathogenic
X	133699912	G	A	G133699912A	GPC3	NM_004484.4(GPC3):c.1149C>T:p.Thr383=	coding	Benign
X	133699930	A	G	A133699930G	GPC3	NM_004484.3(GPC3):c.1131T>C:p.His377=	coding	Benign
X	133699993	T	C	T133699993C	GPC3	NM_004484.3(GPC3):c.1068A>G:p.Gln356=	coding	Benign
X	133699998	G	A	G133699998A	GPC3	NM_004484.4(GPC3):c.1063C>T:p.Arg355Cys	coding	Benign
X	133753473	G	A	G133753473A	GPC3	NM_004484.3(GPC3):c.1032+9C>T	noncoding	Benign
X	133753519	T	C	T133753519C	GPC3	NM_004484.3(GPC3):c.995A>G:p.Gln332Arg	coding	Benign
X	133753542	A	G	A133753542G	GPC3	NM_004484.3(GPC3):c.972T>C:p.Phe324=	coding	Benign
X	133753590	A	T	A133753590T	GPC3	NM_004484.4(GPC3):c.924T>A:p.Asn308Lys	coding	Benign
X	133753617	G	A	G133753617A	GPC3	NM_004484.3(GPC3):c.897C>T:p.Tyr299=	coding	Benign
X	133753625	T	C	T133753625C	GPC3	NM_004484.3(GPC3):c.889A>G:p.Arg297Gly	coding	Benign
X	133753628	A	T	A133753628T	GPC3	NM_004484.3(GPC3):c.886T>A:p.Trp296Arg	coding	Pathogenic
X	133753638	A	G	A133753638G	GPC3	NM_004484.3(GPC3):c.876T>C:p.Ile292=	coding	Benign/Likely_benign
X	133753670	T	C	T133753670C	GPC3	NM_004484.3(GPC3):c.844A>G:p.Met282Val	coding	Benign
X	133753808	C	A	C133753808A	GPC3	NM_004484.4(GPC3):c.706G>T:p.Gly236Ter	coding	Pathogenic
X	133753838	T	C	T133753838C	GPC3	NM_004484.3(GPC3):c.676A>G:p.Thr226Ala	coding	Benign
X	133753866	C	G	C133753866G	GPC3	NM_004484.3(GPC3):c.648G>C:p.Met216Ile	coding	Benign
X	133753919	G	A	G133753919A	GPC3	NM_004484.3(GPC3):c.595C>T:p.Arg199Ter	coding	Pathogenic
X	133753930	T	C	T133753930C	GPC3	NM_004484.3(GPC3):c.584A>G:p.Asn195Ser	coding	Benign
X	133754029	T	C	T133754029C	GPC3	NM_004484.3(GPC3):c.485A>G:p.Asn162Ser	coding	Benign
X	133754055	A	C	A133754055C	GPC3	NM_004484.3(GPC3):c.459T>G:p.Ser153=	coding	Benign
X	133754120	T	C	T133754120C	GPC3	NM_004484.3(GPC3):c.394A>G:p.Asn132Asp	coding	Benign
X	133754122	T	C	T133754122C	GPC3	NM_004484.3(GPC3):c.392A>G:p.Lys131Arg	coding	Benign
X	133754130	G	A	G133754130A	GPC3	NM_004484.3(GPC3):c.384C>T:p.Ala128=	coding	Benign
X	133754149	G	A	G133754149A	GPC3	NM_004484.4(GPC3):c.365C>T:p.Ala122Val	coding	Benign
X	133754153	G	A	G133754153A	GPC3	NM_004484.3(GPC3):c.361C>T:p.His121Tyr	coding	Pathogenic
X	133754155	C	T	C133754155T	GPC3	NM_004484.3(GPC3):c.359G>A:p.Arg120His	coding	Benign
X	133754156	G	A	G133754156A	GPC3	NM_004484.3(GPC3):c.358C>T:p.Arg120Cys	coding	Benign
X	133953049	C	T	C133953049T	GPC3	NM_004484.3(GPC3):c.337+1G>A	noncoding	Pathogenic
X	133953116	G	A	G133953116A	GPC3	NM_004484.4(GPC3):c.271C>T:p.Gln91Ter	coding	Pathogenic
X	133953131	G	A	G133953131A	GPC3	NM_004484.4(GPC3):c.256C>T:p.Arg86Ter	coding	Pathogenic
X	133953183	C	T	C133953183T	GPC3	NM_001164617.2(GPC3):c.204G>A:p.Lys68=	coding	Benign
X	133985274	C	T	C133985274T	GPC3	NM_004484.3(GPC3):c.175+1G>A	noncoding	Pathogenic
X	133985275	C	A	C133985275A	GPC3	NM_004484.3(GPC3):c.175G>T:p.Gly59Ter	coding	Pathogenic
X	133985278	G	A	G133985278A	GPC3	NM_004484.3(GPC3):c.172C>T:p.Pro58Ser	coding	Benign
X	133985282	G	C	G133985282C	GPC3	NM_004484.3(GPC3):c.168C>G:p.Pro56=	coding	Benign
X	133985488	C	T	C133985488T	GPC3	NM_004484.3(GPC3):c.-39G>A	noncoding	Benign
X	134377619	T	C	T134377619C	PHF6	NM_001015877.2(PHF6):c.2T>C:p.Met1Thr	coding	Pathogenic
X	134377620	G	T	G134377620T	PHF6	NM_001015877.2(PHF6):c.3G>T:p.Met1Ile	coding	Pathogenic
X	134377639	A	T	A134377639T	PHF6	NM_001015877.2(PHF6):c.22A>T:p.Lys8Ter	coding	Pathogenic
X	134377751	G	A	G134377751A	PHF6	NM_001015877.2(PHF6):c.134G>A:p.Cys45Tyr	coding	Pathogenic
X	134377765	C	T	C134377765T	PHF6	NM_001015877.2(PHF6):c.138+10C>T	noncoding	Benign
X	134377958	G	A	G134377958A	PHF6	NM_001015877.2(PHF6):c.139-47G>A	noncoding	Benign
X	134377997	A	G	A134377997G	PHF6	NM_001015877.2(PHF6):c.139-8A>G	noncoding	Pathogenic
X	134378116	T	C	T134378116C	PHF6	NM_001015877.2(PHF6):c.240+10T>C	noncoding	Benign
X	134393515	C	A	C134393515A	PHF6	NM_001015877.2(PHF6):c.255C>A:p.Cys85Ter	coding	Pathogenic
X	134393556	G	T	G134393556T	PHF6	NM_001015877.2(PHF6):c.296G>T:p.Cys99Phe	coding	Pathogenic
X	134393642	T	C	T134393642C	PHF6	NM_001015877.2(PHF6):c.374+8T>C	noncoding	Benign
X	134393952	G	A	G134393952A	PHF6	NM_001015877.2(PHF6):c.418G>A:p.Ala140Thr	coding	Pathogenic
X	134413249	A	C	A134413249C	PHF6	NM_001015877.2(PHF6):c.419-242A>C	noncoding	Benign
X	134413658	G	A	G134413658A	PHF6	NM_001015877.2(PHF6):c.585+1G>A	coding	Pathogenic
X	134413910	C	T	C134413910T	PHF6	NM_001015877.2(PHF6):c.673C>T:p.Arg225Ter	coding	Pathogenic
X	134413923	A	G	A134413923G	PHF6	NM_001015877.2(PHF6):c.686A>G:p.His229Arg	coding	Pathogenic
X	134413937	A	G	A134413937G	PHF6	NM_001015877.2(PHF6):c.700A>G:p.Lys234Glu	coding	Pathogenic
X	134413951	C	T	C134413951T	PHF6	NM_001015877.2(PHF6):c.714C>T:p.Ala238=	coding	Benign
X	134415005	T	G	T134415005G	PHF6	NM_001015877.2(PHF6):c.730-11T>G	noncoding	Benign
X	134415055	A	G	A134415055G	PHF6	NM_001015877.2(PHF6):c.769A>G:p.Arg257Gly	coding	Pathogenic
X	134415106	C	T	C134415106T	PHF6	NM_001015877.2(PHF6):c.820C>T:p.Arg274Ter	coding	Pathogenic
X	134417248	G	T	G134417248T	PHF6	NM_001015877.2(PHF6):c.914G>T:p.Cys305Phe	coding	Pathogenic
X	134417289	C	T	C134417289T	PHF6	NM_001015877.2(PHF6):c.955C>T:p.Arg319Ter	coding	Pathogenic
X	134425256	C	T	C134425256T	PHF6	NM_001015877.2(PHF6):c.1024C>T:p.Arg342Ter	coding	Pathogenic
X	134473357	A	T	A134473357T	HPRT1	NM_000194.3(HPRT1):c.28-2A>T	noncoding	Pathogenic
X	134473378	G	T	G134473378T	HPRT1	NM_000194.3(HPRT1):c.47G>T:p.Gly16Val	coding	Pathogenic
X	134473465	G	A	G134473465A	HPRT1	NM_000194.3(HPRT1):c.134G>A:p.Arg45Lys	coding	Pathogenic
X	134475189	G	A	G134475189A	HPRT1	NM_000194.3(HPRT1):c.143G>A:p.Arg48His	coding	Pathogenic
X	134475191	C	T	C134475191T	HPRT1	NM_000194.3(HPRT1):c.145C>T:p.Leu49Phe	coding	Pathogenic
X	134475197	C	T	C134475197T	HPRT1	NM_000194.2(HPRT1):c.151C>T:p.Arg51Ter	coding	Pathogenic
X	134475239	C	T	C134475239T	HPRT1	NM_000194.3(HPRT1):c.193C>T:p.Leu65Phe	coding	Pathogenic
X	134475248	C	T	C134475248T	HPRT1	NM_000194.3(HPRT1):c.202C>T:p.Leu68Phe	coding	Pathogenic
X	134475267	T	G	T134475267G	HPRT1	NM_000194.3(HPRT1):c.221T>G:p.Phe74Cys	coding	Pathogenic
X	134486463	A	G	A134486463G	HPRT1	NM_000194.3(HPRT1):c.319-2A>G	noncoding	Pathogenic
X	134486471	C	T	C134486471T	HPRT1	NM_000194.3(HPRT1):c.325C>T:p.Gln109Ter	coding	Pathogenic
X	134486514	C	G	C134486514G	HPRT1	NM_000194.3(HPRT1):c.368C>G:p.Ser123Ter	coding	Pathogenic
X	134486531	G	A	G134486531A	HPRT1	NM_000194.3(HPRT1):c.384+1G>A	coding	Pathogenic
X	134493533	T	A	T134493533A	HPRT1	NM_000194.3(HPRT1):c.428T>A:p.Met143Lys	coding	Pathogenic
X	134493559	C	T	C134493559T	HPRT1	NM_000194.3(HPRT1):c.454C>T:p.Gln152Ter	coding	Pathogenic
X	134493585	C	T	C134493585T	HPRT1	NM_000194.3(HPRT1):c.480C>T:p.Val160=	coding	Benign
X	134493591	G	A	G134493591A	HPRT1	HPRT_CHERMSIDE	coding	Pathogenic
X	134498389	G	A	G134498389A	HPRT1	NM_000194.3(HPRT1):c.486-1G>A	noncoding	Pathogenic
X	134498407	C	T	C134498407T	HPRT1	NM_000194.2(HPRT1):c.503C>T:p.Thr168Ile	coding	Pathogenic
X	134498412	C	T	C134498412T	HPRT1	NM_000194.3(HPRT1):c.508C>T:p.Arg170Ter	coding	Pathogenic
X	134498431	C	T	C134498431T	HPRT1	NM_000194.3(HPRT1):c.527C>T:p.Pro176Leu	coding	Pathogenic
X	134498433	G	T	G134498433T	HPRT1	NM_000194.3(HPRT1):c.529G>T:p.Asp177Tyr	coding	Pathogenic
X	134498438	T	G	T134498438G	HPRT1	NM_000194.3(HPRT1):c.532+2T>G	noncoding	Pathogenic
X	134498441	G	A	G134498441A	HPRT1	NM_000194.3(HPRT1):c.532+5G>A	noncoding	Pathogenic
X	134498655	G	A	G134498655A	HPRT1	NM_000194.2(HPRT1):c.580G>A:p.Asp194Asn	coding	Pathogenic
X	134498655	G	C	G134498655C	HPRT1	NM_000194.3(HPRT1):c.580G>C:p.Asp194His	coding	Pathogenic
X	134498689	G	A	G134498689A	HPRT1	NM_000194.3(HPRT1):c.609+5G>A	noncoding	Pathogenic
X	134566368	C	T	C134566368T	PLAC1	NM_021796.4(PLAC1):c.315G>A:p.Thr105=	coding	Benign
X	135287570	C	T	C135287570T	ZNF75D	NM_007131.5(ZNF75D):c.1100G>A:p.Cys367Tyr	coding	Benign
X	135291484	C	T	C135291484T	ZNF75D	NM_007131.5(ZNF75D):c.684G>A:p.Leu228=	coding	Benign
X	135985527	G	T	G135985527T	SLC9A6	NM_006359.3(SLC9A6):c.25G>T:p.Ala9Ser	coding	Benign/Likely_benign
X	135985655	A	G	A135985655G	SLC9A6	NM_006359.3(SLC9A6):c.153A>G:p.Arg51=	coding	Benign/Likely_benign
X	135998481	G	A	G135998481A	SLC9A6	NM_006359.3(SLC9A6):c.508-1G>A	noncoding	Pathogenic
X	135998508	T	C	T135998508C	SLC9A6	NM_006359.3(SLC9A6):c.534T>C:p.Ser178=	coding	Benign
X	135998520	C	T	C135998520T	SLC9A6	NM_001042537.1(SLC9A6):c.642C>T:p.Tyr214=	coding	Benign
X	135998969	G	A	G135998969A	SLC9A6	NM_001042537.1(SLC9A6):c.793+1G>A	coding	Pathogenic
X	136002214	G	A	G136002214A	SLC9A6	NM_001042537.1(SLC9A6):c.899+1G>A	coding	Pathogenic/Likely_pathogenic
X	136010436	C	T	C136010436T	SLC9A6	NM_006359.3(SLC9A6):c.804-6C>T	noncoding	Benign
X	136010499	G	A	G136010499A	SLC9A6	NM_006359.3(SLC9A6):c.861G>A:p.Ala287=	coding	Benign
X	136012979	C	T	C136012979T	SLC9A6	NM_006359.3(SLC9A6):c.976C>T:p.Gln326Ter	coding	Pathogenic
X	136013349	G	A	G136013349A	SLC9A6	NM_001042537.1(SLC9A6):c.1148G>A:p.Gly383Asp	coding	Pathogenic
X	136013386	A	C	A136013386C	SLC9A6	NM_006359.3(SLC9A6):c.1089A>C:p.Ala363=	coding	Benign
X	136022705	G	A	G136022705A	SLC9A6	NM_006359.3(SLC9A6):c.1366+8G>A	noncoding	Benign/Likely_benign
X	136024329	G	A	G136024329A	SLC9A6	NM_001042537.1(SLC9A6):c.1463-1G>A	noncoding	Pathogenic
X	136024365	C	T	C136024365T	SLC9A6	NM_001042537.1(SLC9A6):c.1498C>T:p.Arg500Ter	coding	Pathogenic
X	136024487	A	G	A136024487G	SLC9A6	NM_006359.3(SLC9A6):c.1520+4A>G	noncoding	Benign
X	136024489	T	C	T136024489C	SLC9A6	NM_006359.3(SLC9A6):c.1520+6T>C	noncoding	Benign/Likely_benign
X	136024493	A	G	A136024493G	SLC9A6	NM_006359.3(SLC9A6):c.1520+10A>G	noncoding	Benign
X	136030154	G	T	G136030154T	SLC9A6	NM_001042537.1(SLC9A6):c.1639G>T:p.Glu547Ter	coding	Pathogenic
X	136030173	G	A	G136030173A	SLC9A6	NM_006359.3(SLC9A6):c.1551+11G>A	noncoding	Benign
X	136033411	C	T	C136033411T	SLC9A6	NM_006359.3(SLC9A6):c.1552-3C>T	noncoding	Benign
X	136033469	G	A	G136033469A	SLC9A6	NM_006359.3(SLC9A6):c.1607G>A:p.Arg536Gln	coding	Benign/Likely_benign
X	136033494	G	A	G136033494A	SLC9A6	NM_001042537.1(SLC9A6):c.1727+1G>A	coding	Pathogenic/Likely_pathogenic
X	136040072	G	A	G136040072A	SLC9A6	NM_006359.3(SLC9A6):c.1632-4G>A	noncoding	Benign
X	136040103	C	T	C136040103T	SLC9A6	NM_006359.3(SLC9A6):c.1659C>T:p.Ser553=	coding	Benign/Likely_benign
X	136044285	T	G	T136044285G	SLC9A6	NM_006359.3(SLC9A6):c.1738-167T>G	noncoding	Benign
X	136044696	T	G	T136044696G	SLC9A6	NM_001042537.1(SLC9A6):c.2078T>G:p.Leu693Ter	coding	Pathogenic
X	136206125	A	G	A136206125G	FHL1	NM_001159699.2(FHL1):c.23-282A>G	noncoding	Benign
X	136206402	C	T	C136206402T	FHL1	NM_001159699.2(FHL1):c.23-5C>T	noncoding	Benign
X	136206498	G	A	G136206498A	FHL1	NM_001159699.2(FHL1):c.114G>A:p.Lys38=	coding	Benign/Likely_benign
X	136206593	C	T	C136206593T	FHL1	NM_001159699.2(FHL1):c.204+5C>T	noncoding	Benign/Likely_benign
X	136206959	C	T	C136206959T	FHL1	NM_001159699.2(FHL1):c.205-57C>T	noncoding	Benign
X	136207027	T	A	T136207027A	FHL1	NM_001159699.2(FHL1):c.216T>A:p.Tyr72Ter	coding	Pathogenic
X	136207072	C	A	C136207072A	FHL1	NM_001159699.2(FHL1):c.261C>A:p.Cys87Ter	coding	Pathogenic/Likely_pathogenic
X	136207142	C	T	C136207142T	FHL1	NM_001159699.2(FHL1):c.331C>T:p.Arg111Trp	coding	Benign/Likely_benign
X	136207160	T	C	T136207160C	FHL1	NM_001159699.2(FHL1):c.349T>C:p.Cys117Arg	coding	Pathogenic
X	136207169	T	C	T136207169C	FHL1	NM_001159699.2(FHL1):c.358T>C:p.Cys120Arg	coding	Pathogenic
X	136207191	G	A	G136207191A	FHL1	NM_001159699.2(FHL1):c.379+1G>A	coding	Pathogenic
X	136207719	G	C	G136207719C	FHL1	NM_001159699.2(FHL1):c.380-73G>C	noncoding	Benign
X	136207743	C	T	C136207743T	FHL1	NM_001159699.2(FHL1):c.380-49C>T	noncoding	Benign
X	136207825	G	A	G136207825A	FHL1	NM_001159699.2(FHL1):c.413G>A:p.Trp138Ter	coding	Pathogenic
X	136207825	G	C	G136207825C	FHL1	NM_001159699.2(FHL1):c.413G>C:p.Trp138Ser	coding	Pathogenic
X	136207827	C	T	C136207827T	FHL1	NM_001159699.2(FHL1):c.415C>T:p.His139Tyr	coding	Pathogenic
X	136207828	A	T	A136207828T	FHL1	NM_001159699.2(FHL1):c.416A>T:p.His139Leu	coding	Pathogenic
X	136207829	C	G	C136207829G	FHL1	NM_001159699.2(FHL1):c.417C>G:p.His139Gln	coding	Pathogenic
X	136207855	G	T	G136207855T	FHL1	NM_001159699.2(FHL1):c.443G>T:p.Cys148Phe	coding	Pathogenic
X	136207901	C	T	C136207901T	FHL1	NM_001159699.2(FHL1):c.489C>T:p.Asp163=	coding	Benign/Likely_benign
X	136207909	G	A	G136207909A	FHL1	NM_001159699.2(FHL1):c.497G>A:p.Cys166Tyr	coding	Pathogenic
X	136207910	C	T	C136207910T	FHL1	NM_001159699.2(FHL1):c.498C>T:p.Cys166=	coding	Benign
X	136207917	T	C	T136207917C	FHL1	NM_001159699.2(FHL1):c.505T>C:p.Cys169Arg	coding	Pathogenic
X	136207918	G	A	G136207918A	FHL1	NM_001159699.2(FHL1):c.506G>A:p.Cys169Tyr	coding	Pathogenic
X	136208025	C	T	C136208025T	FHL1	NM_001159699.2(FHL1):c.549+64C>T	noncoding	Benign
X	136208091	G	A	G136208091A	FHL1	NM_001159699.2(FHL1):c.549+130G>A	noncoding	Benign
X	136208453	A	G	A136208453G	FHL1	NM_001159699.2(FHL1):c.550-2A>G	noncoding	Pathogenic
X	136208545	C	T	C136208545T	FHL1	NM_001159699.2(FHL1):c.640C>T:p.Gln214Ter	coding	Pathogenic
X	136208578	T	C	T136208578C	FHL1	NM_001159699.2(FHL1):c.673T>C:p.Cys225Arg	coding	Pathogenic
X	136208625	C	G	C136208625G	FHL1	NM_001159699.2(FHL1):c.720C>G:p.Cys240Trp	coding	Pathogenic/Likely_pathogenic
X	136208642	G	A	G136208642A	FHL1	NM_001159699.2(FHL1):c.736+1G>A	coding	Pathogenic
X	136209392	G	A	G136209392A	FHL1	NM_001159699.2(FHL1):c.737-479G>A	coding	Pathogenic
X	136209858	T	C	T136209858C	FHL1	NM_001159699.2(FHL1):c.737-13T>C	noncoding	Benign
X	136209862	T	C	T136209862C	FHL1	NM_001159699.2(FHL1):c.737-9T>C	noncoding	Benign/Likely_benign
X	136209863	C	T	C136209863T	FHL1	NM_001159699.2(FHL1):c.737-8C>T	noncoding	Benign
X	136209866	C	A	C136209866A	FHL1	NM_001159699.2(FHL1):c.737-5C>A	noncoding	Benign/Likely_benign
X	136209920	C	T	C136209920T	FHL1	NM_001159699.2(FHL1):c.786C>T:p.His262=	coding	Benign/Likely_benign
X	136210005	G	A	G136210005A	FHL1	NM_001159699.2(FHL1):c.871G>A:p.Asp291Asn	coding	Benign
X	136210023	T	G	T136210023G	FHL1	NM_001159699.2(FHL1):c.889T>G:p.Ter297Glu	coding	Pathogenic
X	136225925	C	T	C136225925T	MAP7D3	NM_024597.4(MAP7D3):c.2123G>A:p.Arg708Gln	coding	Benign
X	136231946	T	C	T136231946C	MAP7D3	NM_024597.4(MAP7D3):c.1011A>G:p.Ser337=	coding	Benign
X	136232192	C	T	C136232192T	MAP7D3	NM_024597.4(MAP7D3):c.765G>A:p.Gln255=	coding	Benign
X	136347975	A	G	A136347975G	ADGRG4	NM_153834.4(ADGRG4):c.4269A>G:p.Ser1423=	coding	Benign
X	136644791	A	G	A136644791G	-	NC_000023.11:g.136644791A>G	noncoding	Benign
X	136648058	A	C	A136648058C	CD40LG	NM_000074.2(CD40LG):c.-191A>C	noncoding	Benign/Likely_benign
X	136648254	C	T	C136648254T	CD40LG	NM_000074.3(CD40LG):c.6C>T:p.Ile2=	coding	Benign
X	136648279	C	T	C136648279T	CD40LG	NM_000074.2(CD40LG):c.31C>T:p.Arg11Ter	coding	Pathogenic
X	136648280	G	A	G136648280A	CD40LG	NM_000074.3(CD40LG):c.32G>A:p.Arg11Gln	coding	Benign
X	136648329	A	G	A136648329G	CD40LG	NM_000074.2(CD40LG):c.81A>G:p.Leu27=	coding	Benign
X	136648362	G	A	G136648362A	CD40LG	NM_000074.3(CD40LG):c.114G>A:p.Gly38=	coding	Benign
X	136648396	T	C	T136648396C	CD40LG	NM_000074.2(CD40LG):c.148T>C:p.Leu50=	coding	Benign
X	136650325	C	A	C136650325A	CD40LG	NM_000074.2(CD40LG):c.216C>A:p.Cys72Ter	coding	Pathogenic
X	136650341	T	C	T136650341C	CD40LG	NM_000074.3(CD40LG):c.232T>C:p.Ser78Pro	coding	Benign
X	136656354	A	G	A136656354G	CD40LG	NM_000074.2(CD40LG):c.347-2A>G	noncoding	Pathogenic
X	136656355	G	A	G136656355A	CD40LG	NM_000074.3(CD40LG):c.347-1G>A	noncoding	Pathogenic
X	136656377	C	A	C136656377A	CD40LG	NM_000074.2(CD40LG):c.368C>A:p.Ala123Glu	coding	Pathogenic
X	136659026	T	C	T136659026C	CD40LG	NM_000074.2(CD40LG):c.410-13T>C	noncoding	Benign
X	136659047	T	C	T136659047C	CD40LG	NM_000074.3(CD40LG):c.418T>C:p.Trp140Arg	coding	Pathogenic
X	136659048	G	A	G136659048A	CD40LG	NM_000074.2(CD40LG):c.419G>A:p.Trp140Ter	coding	Pathogenic
X	136659050	G	C	G136659050C	CD40LG	NM_000074.2(CD40LG):c.421G>C:p.Ala141Pro	coding	Pathogenic
X	136659093	T	C	T136659093C	CD40LG	NM_000074.2(CD40LG):c.464T>C:p.Leu155Pro	coding	Pathogenic
X	136659116	G	A	G136659116A	CD40LG	NM_000074.3(CD40LG):c.487G>A:p.Val163Ile	coding	Benign
X	136659171	G	A	G136659171A	CD40LG	NM_000074.2(CD40LG):c.542G>A:p.Arg181Gln	coding	Benign
X	136659179	T	A	T136659179A	CD40LG	NM_000074.3(CD40LG):c.550T>A:p.Ser184Thr	coding	Benign
X	136659185	C	T	C136659185T	CD40LG	NM_000074.3(CD40LG):c.556C>T:p.Gln186Ter	coding	Pathogenic
X	136659224	G	A	G136659224A	CD40LG	NM_000074.3(CD40LG):c.595G>A:p.Gly199Ser	coding	Benign
X	136659230	T	C	T136659230C	CD40LG	NM_000074.3(CD40LG):c.601T>C:p.Phe201Leu	coding	Benign
X	136659284	G	A	G136659284A	CD40LG	NM_000074.2(CD40LG):c.655G>A:p.Gly219Arg	coding	Benign/Likely_benign
X	136659287	C	T	C136659287T	CD40LG	NM_000074.2(CD40LG):c.658C>T:p.Gln220Ter	coding	Pathogenic
X	136659309	G	T	G136659309T	CD40LG	NM_000074.2(CD40LG):c.680G>T:p.Gly227Val	coding	Pathogenic
X	136659313	A	G	A136659313G	CD40LG	NM_000074.2(CD40LG):c.684A>G:p.Val228=	coding	Benign
X	136659323	C	T	C136659323T	CD40LG	NM_000074.3(CD40LG):c.694C>T:p.Gln232Ter	coding	Pathogenic
X	136659332	G	C	G136659332C	CD40LG	NM_000074.2(CD40LG):c.703G>C:p.Ala235Pro	coding	Pathogenic
X	136659390	C	T	C136659390T	CD40LG	NM_000074.2(CD40LG):c.761C>T:p.Thr254Met	coding	Pathogenic
X	136659399	G	A	G136659399A	CD40LG	NM_000074.3(CD40LG):c.770G>A:p.Gly257Asp	coding	Pathogenic
X	136675035	G	A	G136675035A	ARHGEF6	NM_004840.3(ARHGEF6):c.2007C>T:p.Ser669=	coding	Benign
X	136679601	C	T	C136679601T	ARHGEF6	NM_004840.3(ARHGEF6):c.1764G>A:p.Pro588=	coding	Benign
X	136679646	G	A	G136679646A	ARHGEF6	NM_004840.3(ARHGEF6):c.1719C>T:p.Thr573=	coding	Benign
X	136681971	A	G	A136681971G	ARHGEF6	NM_004840.3(ARHGEF6):c.1480-3T>C	noncoding	Benign
X	136708707	C	A	C136708707A	ARHGEF6	NM_004840.3(ARHGEF6):c.891G>T:p.Gln297His	coding	Benign/Likely_benign
X	136708742	G	A	G136708742A	ARHGEF6	NM_004840.3(ARHGEF6):c.856C>T:p.Leu286=	coding	Benign
X	136745320	C	T	C136745320T	ARHGEF6	NM_004840.3(ARHGEF6):c.362G>A:p.Arg121His	coding	Benign/Likely_benign
X	137030169	G	A	G137030169A	GPR101	NM_054021.1(GPR101):c.1506C>T:p.Tyr502=	coding	Benign
X	137030450	C	T	C137030450T	GPR101	NM_054021.1(GPR101):c.1225G>A:p.Val409Met	coding	Benign
X	137030751	C	T	C137030751T	GPR101	NM_054021.1(GPR101):c.924G>A:p.Glu308=	coding	Benign/Likely_benign
X	137030963	C	T	C137030963T	GPR101	NM_054021.1(GPR101):c.712G>A:p.Val238Ile	coding	Benign/Likely_benign
X	137031509	A	G	A137031509G	GPR101	NM_054021.1(GPR101):c.166T>C:p.Leu56=	coding	Benign
X	137566819	C	A	C137566819A	ZIC3	NM_003413.4(ZIC3):c.128C>A:p.Ser43Ter	coding	Pathogenic
X	137566819	C	G	C137566819G	ZIC3	NM_003413.4(ZIC3):c.128C>G:p.Ser43Ter	coding	Pathogenic
X	137566853	T	C	T137566853C	ZIC3	NM_003413.4(ZIC3):c.162T>C:p.Ala54=	coding	Benign
X	137567111	C	T	C137567111T	ZIC3	NM_003413.4(ZIC3):c.420C>T:p.Phe140=	coding	Benign
X	137567298	G	A	G137567298A	ZIC3	NM_003413.4(ZIC3):c.607G>A:p.Ala203Thr	coding	Benign/Likely_benign
X	137567340	C	G	C137567340G	ZIC3	NM_003413.4(ZIC3):c.649C>G:p.Pro217Ala	coding	Benign/Likely_benign
X	137567436	C	T	C137567436T	ZIC3	NM_003413.4(ZIC3):c.745C>T:p.Gln249Ter	coding	Pathogenic
X	137567446	C	A	C137567446A	ZIC3	NM_003413.4(ZIC3):c.755C>A:p.Ser252Ter	coding	Pathogenic
X	137567448	T	A	T137567448A	ZIC3	NM_003413.4(ZIC3):c.757T>A:p.Cys253Ser	coding	Pathogenic
X	137567449	G	C	G137567449C	ZIC3	NM_003413.4(ZIC3):c.758G>C:p.Cys253Ser	coding	Pathogenic
X	137567454	T	G	T137567454G	ZIC3	NM_003413.4(ZIC3):c.763T>G:p.Trp255Gly	coding	Pathogenic
X	137567495	C	A	C137567495A	ZIC3	NM_003413.4(ZIC3):c.804C>A:p.Cys268Ter	coding	Pathogenic
X	137567552	G	A	G137567552A	ZIC3	NM_003413.4(ZIC3):c.861G>A:p.Val287=	coding	Benign
X	137567597	C	T	C137567597T	ZIC3	NM_003413.4(ZIC3):c.906C>T:p.Cys302=	coding	Benign/Likely_benign
X	137567603	G	A	G137567603A	ZIC3	NM_003413.4(ZIC3):c.912G>A:p.Arg304=	coding	Benign
X	137567659	C	T	C137567659T	ZIC3	NM_003413.4(ZIC3):c.968C>T:p.Thr323Met	coding	Pathogenic
X	137569054	A	G	A137569054G	ZIC3	NM_003413.4(ZIC3):c.1213A>G:p.Lys405Glu	coding	Pathogenic
X	137569063	A	T	A137569063T	ZIC3	NM_003413.4(ZIC3):c.1222A>T:p.Lys408Ter	coding	Pathogenic
X	137569914	T	G	T137569914G	ZIC3	NM_003413.4(ZIC3):c.1248T>G:p.Asp416Glu	coding	Benign
X	137570111	A	G	A137570111G	ZIC3	NM_003413.4(ZIC3):c.*41A>G	noncoding	Benign/Likely_benign
X	137570559	A	G	A137570559G	ZIC3	NM_003413.4(ZIC3):c.*489A>G	noncoding	Benign/Likely_benign
X	137571259	A	G	A137571259G	ZIC3	NM_003413.4(ZIC3):c.*1189A>G	noncoding	Benign/Likely_benign
X	137572094	G	C	G137572094C	ZIC3	NM_003413.4(ZIC3):c.*2024G>C	noncoding	Benign/Likely_benign
X	138632895	G	A	G138632895A	FGF13	NM_004114.5(FGF13):c.693C>T:p.Gly231=	coding	Benign
X	139530730	G	A	G139530730A	F9	NM_000133.3(F9):c.-35G>A	noncoding	Pathogenic
X	139530771	C	T	C139530771T	F9	NM_000133.4(F9):c.7C>T:p.Arg3Cys	coding	Benign
X	139530795	T	A	T139530795A	F9	NM_001313913.1(F9):c.31T>A:p.Ser11Thr	coding	Pathogenic
X	139530815	C	T	C139530815T	F9	NM_000133.4(F9):c.51C>T:p.Ile17=	coding	Benign
X	139530816	T	C	T139530816C	F9	NM_000133.3(F9):c.52T>C:p.Cys18Arg	coding	Pathogenic
X	139530843	G	A	G139530843A	F9	NM_000133.3(F9):c.79G>A:p.Glu27Lys	coding	Pathogenic
X	139530846	T	C	T139530846C	F9	NM_000133.3(F9):c.82T>C:p.Cys28Arg	coding	Pathogenic
X	139530852	G	A	G139530852A	F9	NM_000133.3(F9):c.88G>A:p.Val30Ile	coding	Pathogenic
X	139530852	G	C	G139530852C	F9	NM_000133.3(F9):c.88G>C:p.Val30Leu	coding	Pathogenic
X	139530853	G	T	G139530853T	F9	NM_000133.4(F9):c.88+1G>T	coding	Pathogenic
X	139537029	C	T	C139537029T	F9	NM_000133.3(F9):c.108C>T:p.Asn36=	coding	Benign/Likely_benign
X	139537030	G	A	G139537030A	F9	NM_000133.4(F9):c.109G>A:p.Ala37Thr	coding	Benign
X	139537035	C	T	C139537035T	F9	NM_000133.4(F9):c.114C>T:p.Asn38=	coding	Benign
X	139537048	C	T	C139537048T	F9	NM_000133.4(F9):c.127C>T:p.Arg43Trp	coding	Pathogenic
X	139537049	G	A	G139537049A	F9	NM_000133.4(F9):c.128G>A:p.Arg43Gln	coding	Pathogenic
X	139537063	A	T	A139537063T	F9	NM_000133.4(F9):c.142A>T:p.Asn48Tyr	coding	Pathogenic
X	139537090	C	T	C139537090T	F9	NM_000133.3(F9):c.169C>T:p.Gln57Ter	coding	Pathogenic
X	139537135	G	T	G139537135T	F9	NM_000133.4(F9):c.214G>T:p.Glu72Ter	coding	Pathogenic
X	139537139	A	T	A139537139T	F9	NM_000133.3(F9):c.218A>T:p.Glu73Val	coding	Pathogenic
X	139537144	C	T	C139537144T	F9	NM_000133.3(F9):c.223C>T:p.Arg75Ter	coding	Pathogenic
X	139537145	G	A	G139537145A	F9	NM_000133.3(F9):c.224G>A:p.Arg75Gln	coding	Pathogenic/Likely_pathogenic
X	139537147	G	A	G139537147A	F9	NM_000133.4(F9):c.226G>A:p.Glu76Lys	coding	Pathogenic
X	139537158	A	C	A139537158C	F9	NM_000133.3(F9):c.237A>C:p.Glu79Asp	coding	Pathogenic
X	139537178	G	A	G139537178A	F9	NM_000133.4(F9):c.252+5G>A	noncoding	Pathogenic
X	139537361	G	C	G139537361C	F9	NM_000133.3(F9):c.253-1G>C	noncoding	Pathogenic
X	139537369	T	G	T139537369G	F9	NM_000133.4(F9):c.260T>G:p.Phe87Cys	coding	Pathogenic
X	139537387	G	A	G139537387A	F9	NM_000133.4(F9):c.277+1G>A	coding	Pathogenic
X	139537388	T	C	T139537388C	F9	NM_000133.3(F9):c.277+2T>C	noncoding	Pathogenic
X	139541073	A	G	A139541073G	F9	NM_000133.3(F9):c.278-3A>G	noncoding	Pathogenic
X	139541076	A	G	A139541076G	F9	NM_001313913.1(F9):c.277+3690A>G	coding	Pathogenic
X	139541085	A	C	A139541085C	F9	NM_001313913.1(F9):c.277+3699A>C	coding	Pathogenic
X	139541099	C	G	C139541099G	F9	NM_001313913.1(F9):c.277+3713C>G	coding	Pathogenic
X	139541102	T	C	T139541102C	F9	NM_000133.4(F9):c.304T>C:p.Cys102Arg	coding	Pathogenic
X	139541114	G	A	G139541114A	F9	NM_000133.3(F9):c.316G>A:p.Gly106Ser	coding	Pathogenic
X	139541126	G	A	G139541126A	F9	NM_001313913.1(F9):c.277+3740G>A	coding	Pathogenic
X	139541127	A	G	A139541127G	F9	NM_001313913.1(F9):c.277+3741A>G	coding	Pathogenic
X	139541131	C	T	C139541131T	F9	NM_000133.4(F9):c.333C>T:p.Asp111=	coding	Benign
X	139541142	A	G	A139541142G	F9	NM_000133.4(F9):c.344A>G:p.Tyr115Cys	coding	Pathogenic
X	139541152	G	A	G139541152A	F9	NM_000133.4(F9):c.354G>A:p.Trp118Ter	coding	Pathogenic
X	139541196	A	G	A139541196G	F9	NM_000133.3(F9):c.391+7A>G	noncoding	Benign
X	139541199	T	G	T139541199G	F9	NM_000133.3(F9):c.391+10T>G	noncoding	Benign
X	139548362	G	C	G139548362C	F9	NM_000133.4(F9):c.392-1G>C	noncoding	Pathogenic
X	139548372	G	C	G139548372C	F9	NM_000133.4(F9):c.401G>C:p.Cys134Ser	coding	Pathogenic
X	139548378	T	C	T139548378C	F9	NM_000133.3(F9):c.407T>C:p.Ile136Thr	coding	Pathogenic
X	139548387	G	A	G139548387A	F9	NM_000133.4(F9):c.416G>A:p.Gly139Asp	coding	Pathogenic
X	139548393	G	A	G139548393A	F9	NM_000133.4(F9):c.422G>A:p.Cys141Tyr	coding	Pathogenic
X	139548398	C	T	C139548398T	F9	NM_000133.4(F9):c.427C>T:p.Gln143Ter	coding	Pathogenic
X	139548450	G	C	G139548450C	F9	NM_000133.3(F9):c.479G>C:p.Gly160Ala	coding	Pathogenic
X	139548455	C	T	C139548455T	F9	NM_000133.3(F9):c.484C>T:p.Arg162Ter	coding	Pathogenic
X	139548467	A	T	A139548467T	F9	NM_000133.3(F9):c.496A>T:p.Asn166Tyr	coding	Pathogenic
X	139548478	C	G	C139548478G	F9	NM_000133.4(F9):c.507C>G:p.Ser169=	coding	Benign
X	139548480	G	A	G139548480A	F9	NM_000133.4(F9):c.509G>A:p.Cys170Tyr	coding	Pathogenic
X	139548484	A	G	A139548484G	F9	NM_000133.4(F9):c.513A>G:p.Glu171=	coding	Benign
X	139551064	C	T	C139551064T	F9	NM_000133.4(F9):c.523C>T:p.Pro175Ser	coding	Benign
X	139551074	G	T	G139551074T	F9	NM_000133.4(F9):c.533G>T:p.Cys178Phe	coding	Pathogenic
X	139551082	G	T	G139551082T	F9	NM_000133.3(F9):c.541G>T:p.Val181Phe	coding	Pathogenic
X	139551112	C	T	C139551112T	F9	NM_000133.3(F9):c.571C>T:p.Arg191Cys	coding	Pathogenic
X	139551113	G	A	G139551113A	F9	NM_000133.3(F9):c.572G>A:p.Arg191His	coding	Pathogenic
X	139551121	A	G	A139551121G	F9	NM_000133.3(F9):c.580A>G:p.Thr194Ala	coding	Benign
X	139551196	C	T	C139551196T	F9	NM_000133.3(F9):c.655C>T:p.Gln219Ter	coding	Pathogenic
X	139551199	T	A	T139551199A	F9	NM_000133.3(F9):c.658T>A:p.Ser220Thr	coding	Benign/Likely_benign
X	139551217	C	T	C139551217T	F9	NM_000133.3(F9):c.676C>T:p.Arg226Trp	coding	Pathogenic
X	139551218	G	A	G139551218A	F9	NM_000133.3(F9):c.677G>A:p.Arg226Gln	coding	Pathogenic
X	139551223	G	C	G139551223C	F9	NM_000133.3(F9):c.682G>C:p.Val228Leu	coding	Pathogenic
X	139551223	G	T	G139551223T	F9	NM_000133.3(F9):c.682G>T:p.Val228Phe	coding	Pathogenic
X	139551237	T	C	T139551237C	F9	NM_000133.4(F9):c.696T>C:p.Asp232=	coding	Benign
X	139551238	G	A	G139551238A	F9	NM_000133.3(F9):c.697G>A:p.Ala233Thr	coding	Pathogenic
X	139551250	C	T	C139551250T	F9	NM_000133.3(F9):c.709C>T:p.Gln237Ter	coding	Pathogenic
X	139551251	A	T	A139551251T	F9	NM_000133.3(F9):c.710A>T:p.Gln237Leu	coding	Pathogenic
X	139551260	G	A	G139551260A	F9	NM_000133.4(F9):c.719G>A:p.Trp240Ter	coding	Pathogenic
X	139551261	G	A	G139551261A	F9	NM_000133.4(F9):c.720G>A:p.Trp240Ter	coding	Pathogenic
X	139551265	G	A	G139551265A	F9	NM_000133.4(F9):c.723+1G>A	coding	Pathogenic
X	139560747	T	C	T139560747C	F9	NM_000133.4(F9):c.730T>C:p.Leu244=	coding	Benign
X	139560748	T	C	T139560748C	F9	NM_000133.4(F9):c.731T>C:p.Leu244Ser	coding	Pathogenic
X	139560772	G	C	G139560772C	F9	NM_000133.3(F9):c.755G>C:p.Cys252Ser	coding	Pathogenic
X	139560785	C	T	C139560785T	F9	NM_000133.4(F9):c.768C>T:p.Ile256=	coding	Benign
X	139560821	T	G	T139560821G	F9	NM_000133.3(F9):c.804T>G:p.Cys268Trp	coding	Pathogenic
X	139560836	T	C	T139560836C	F9	NM_000133.3(F9):c.819T>C:p.Val273=	coding	Benign/Likely_benign
X	139560851	C	T	C139560851T	F9	NM_000133.4(F9):c.834C>T:p.Val278=	coding	Benign
X	139560852	G	A	G139560852A	F9	NM_000133.3(F9):c.835G>A:p.Ala279Thr	coding	Pathogenic/Likely_pathogenic
X	139561557	A	T	A139561557T	F9	NM_000133.3(F9):c.872A>T:p.Glu291Val	coding	Pathogenic
X	139561565	C	T	C139561565T	F9	NM_000133.3(F9):c.880C>T:p.Arg294Ter	coding	Pathogenic
X	139561566	G	A	G139561566A	F9	NM_000133.3(F9):c.881G>A:p.Arg294Gln	coding	Pathogenic
X	139561572	T	A	T139561572A	F9	NM_000133.4(F9):c.887T>A:p.Val296Glu	coding	Pathogenic
X	139561577	C	T	C139561577T	F9	NM_000133.3(F9):c.892C>T:p.Arg298Ter	coding	Pathogenic
X	139561602	A	G	A139561602G	F9	NM_000133.3(F9):c.917A>G:p.Asn306Ser	coding	Pathogenic
X	139561632	T	C	T139561632C	F9	NM_000133.4(F9):c.947T>C:p.Ile316Thr	coding	Pathogenic
X	139561652	G	A	G139561652A	F9	NM_000133.4(F9):c.967G>A:p.Glu323Lys	coding	Benign
X	139561683	C	T	C139561683T	F9	NM_000133.3(F9):c.998C>T:p.Pro333Leu	coding	Pathogenic
X	139561694	G	A	G139561694A	F9	NM_000133.3(F9):c.1009G>A:p.Ala337Thr	coding	Pathogenic
X	139561694	G	C	G139561694C	F9	NM_000133.3(F9):c.1009G>C:p.Ala337Pro	coding	Pathogenic
X	139561709	A	G	A139561709G	F9	NM_000133.4(F9):c.1024A>G:p.Thr342Ala	coding	Pathogenic
X	139561710	C	T	C139561710T	F9	NM_000133.3(F9):c.1025C>T:p.Thr342Met	coding	Pathogenic/Likely_pathogenic
X	139561716	T	C	T139561716C	F9	NM_000133.3(F9):c.1031T>C:p.Ile344Thr	coding	Pathogenic
X	139561743	T	C	T139561743C	F9	NM_000133.3(F9):c.1058T>C:p.Val353Ala	coding	Pathogenic
X	139561749	G	T	G139561749T	F9	NM_000133.3(F9):c.1064G>T:p.Gly355Val	coding	Pathogenic
X	139561755	G	A	G139561755A	F9	NM_000133.3(F9):c.1070G>A:p.Gly357Glu	coding	Pathogenic
X	139561773	G	T	G139561773T	F9	NM_000133.3(F9):c.1088G>T:p.Gly363Val	coding	Pathogenic
X	139561780	A	G	A139561780G	F9	NM_000133.3(F9):c.1095A>G:p.Ser365=	coding	Benign/Likely_benign
X	139561795	G	A	G139561795A	F9	NM_000133.3(F9):c.1110G>A:p.Gln370=	coding	Benign
X	139561798	C	A	C139561798A	F9	NM_000133.4(F9):c.1113C>A:p.Tyr371Ter	coding	Pathogenic
X	139561805	G	T	G139561805T	F9	NM_000133.3(F9):c.1120G>T:p.Val374Phe	coding	Pathogenic
X	139561820	C	T	C139561820T	F9	NM_000133.3(F9):c.1135C>T:p.Arg379Ter	coding	Pathogenic
X	139561821	G	A	G139561821A	F9	NM_000133.3(F9):c.1136G>A:p.Arg379Gln	coding	Pathogenic
X	139561829	T	C	T139561829C	F9	NM_000133.3(F9):c.1144T>C:p.Cys382Arg	coding	Pathogenic
X	139561835	C	T	C139561835T	F9	NM_000133.3(F9):c.1150C>T:p.Arg384Ter	coding	Pathogenic
X	139561836	G	C	G139561836C	F9	NM_000133.3(F9):c.1151G>C:p.Arg384Pro	coding	Pathogenic
X	139561836	G	T	G139561836T	F9	NM_000133.3(F9):c.1151G>T:p.Arg384Leu	coding	Pathogenic
X	139561858	T	A	T139561858A	F9	NM_000133.4(F9):c.1173T>A:p.Tyr391Ter	coding	Pathogenic
X	139561865	A	G	A139561865G	F9	NM_000133.3(F9):c.1180A>G:p.Met394Val	coding	Pathogenic
X	139561871	T	A	T139561871A	F9	NM_000133.4(F9):c.1186T>A:p.Cys396Ser	coding	Pathogenic
X	139561872	G	C	G139561872C	F9	NM_000133.3(F9):c.1187G>C:p.Cys396Ser	coding	Pathogenic
X	139561874	G	C	G139561874C	F9	NM_000133.3(F9):c.1189G>C:p.Ala397Pro	coding	Pathogenic
X	139561902	C	T	C139561902T	F9	NM_000133.3(F9):c.1217C>T:p.Ser406Leu	coding	Pathogenic
X	139561913	G	C	G139561913C	F9	NM_000133.3(F9):c.1228G>C:p.Asp410His	coding	Pathogenic
X	139561916	A	G	A139561916G	F9	NM_000133.3(F9):c.1231A>G:p.Ser411Gly	coding	Pathogenic
X	139561917	G	T	G139561917T	F9	NM_000133.3(F9):c.1232G>T:p.Ser411Ile	coding	Pathogenic
X	139561925	C	A	C139561925A	F9	NM_000133.3(F9):c.1240C>A:p.Pro414Thr	coding	Pathogenic
X	139561926	C	T	C139561926T	F9	NM_000133.4(F9):c.1241C>T:p.Pro414Leu	coding	Pathogenic
X	139561941	T	A	T139561941A	F9	NM_000133.3(F9):c.1256T>A:p.Val419Glu	coding	Pathogenic
X	139561942	G	T	G139561942T	F9	NM_000133.4(F9):c.1257G>T:p.Val419=	coding	Benign
X	139561989	G	A	G139561989A	F9	NM_000133.4(F9):c.1304G>A:p.Cys435Tyr	coding	Pathogenic
X	139561992	C	A	C139561992A	F9	NM_000133.3(F9):c.1307C>A:p.Ala436Glu	coding	Pathogenic
X	139561992	C	T	C139561992T	F9	NM_000133.3(F9):c.1307C>T:p.Ala436Val	coding	Pathogenic
X	139562009	G	A	G139562009A	F9	NM_000133.3(F9):c.1324G>A:p.Gly442Arg	coding	Pathogenic
X	139562010	G	A	G139562010A	F9	NM_000133.4(F9):c.1325G>A:p.Gly442Glu	coding	Pathogenic
X	139562013	T	C	T139562013C	F9	NM_000133.3(F9):c.1328T>C:p.Ile443Thr	coding	Pathogenic
X	139562042	T	C	T139562042C	F9	NM_000133.3(F9):c.1357T>C:p.Trp453Arg	coding	Pathogenic
X	139562046	T	C	T139562046C	F9	NM_000133.4(F9):c.1361T>C:p.Ile454Thr	coding	Pathogenic
X	139562054	A	T	A139562054T	F9	NM_000133.3(F9):c.1369A>T:p.Lys457Ter	coding	Pathogenic
X	139562066	A	C	A139562066C	F9	NM_000133.3(F9):c.1381A>C:p.Thr461Pro	coding	Benign
X	139562070	A	G	A139562070G	F9	NM_000133.4(F9):c.1385A>G:p.Ter462=	coding	Benign
X	139562547	C	A	C139562547A	F9	NM_000133.3(F9):c.*476C>A	noncoding	Benign
X	139562677	G	A	G139562677A	F9	NM_000133.3(F9):c.*606G>A	noncoding	Benign
X	139562758	G	A	G139562758A	F9	NM_000133.3(F9):c.*687G>A	noncoding	Benign
X	139563228	A	G	A139563228G	F9	NM_000133.3(F9):c.*1157A>G	noncoding	Pathogenic
X	139582456	G	C	G139582456C	MCF2	NM_005369.5(MCF2):c.*15C>G	coding	Benign
X	139589842	A	G	A139589842G	MCF2	NM_005369.5(MCF2):c.2363T>C:p.Ile788Thr	coding	Benign
X	139596700	C	A	C139596700A	MCF2	NM_005369.5(MCF2):c.2126G>T:p.Gly709Val	coding	Benign
X	139615057	G	A	G139615057A	MCF2	NM_005369.5(MCF2):c.1192-5C>T	noncoding	Benign
X	139617575	C	T	C139617575T	MCF2	NM_005369.5(MCF2):c.937G>A:p.Glu313Lys	coding	Benign
X	139631516	A	G	A139631516G	MCF2	NM_005369.5(MCF2):c.172-5T>C	noncoding	Benign
X	139632389	C	T	C139632389T	MCF2	NM_005369.5(MCF2):c.117G>A:p.Thr39=	coding	Benign
X	139745781	C	T	C139745781T	ATP11C	NM_001010986.3(ATP11C):c.2914G>A:p.Val972Met	coding	Benign
X	139763425	A	T	A139763425T	ATP11C	NM_001010986.3(ATP11C):c.2401-7T>A	noncoding	Benign
X	139788281	G	A	G139788281A	ATP11C	NM_001010986.3(ATP11C):c.1440C>T:p.Asn480=	coding	Benign
X	139814899	T	C	T139814899C	ATP11C	NM_001010986.3(ATP11C):c.414A>G:p.Arg138=	coding	Benign
X	140504329	T	G	T140504329G	SOX3	NM_005634.2(SOX3):c.732A>C:p.Ala244=	coding	Benign
X	140504452	A	G	A140504452G	SOX3	NM_005634.2(SOX3):c.609T>C:p.Tyr203=	coding	Benign
X	140504458	C	T	C140504458T	SOX3	NM_005634.2(SOX3):c.603G>A:p.Lys201=	coding	Benign
X	140504754	G	T	G140504754T	SOX3	NM_005634.2(SOX3):c.307C>A:p.Pro103Thr	coding	Benign
X	140504934	C	T	C140504934T	SOX3	NM_005634.2(SOX3):c.127G>A:p.Ala43Thr	coding	Benign
X	140504984	A	G	A140504984G	SOX3	NM_005634.2(SOX3):c.77T>C:p.Ile26Thr	coding	Benign
X	140505047	C	T	C140505047T	SOX3	NM_005634.2(SOX3):c.14G>A:p.Arg5Gln	coding	Benign/Likely_benign
X	140783697	G	A	G140783697A	CDR1	NM_004065.2(CDR1):c.670C>T:p.Arg224Cys	coding	Benign
X	141881570	A	G	A141881570G	MAGEC3	NM_138702.1(MAGEC3):c.683A>G:p.Lys228Arg	coding	Benign
X	142203164	G	C	G142203164C	MAGEC2	NM_016249.4(MAGEC2):c.824C>G:p.Thr275Ser	coding	Benign
X	142203403	A	G	A142203403G	MAGEC2	NM_016249.4(MAGEC2):c.585T>C:p.Leu195=	coding	Benign
X	143629567	G	A	G143629567A	SLITRK4	NM_001184749.3(SLITRK4):c.1542C>T:p.Ser514=	coding	Benign
X	143884255	C	G	C143884255G	UBE2NL	NC_000023.11:g.143884255C>G	coding	Benign
X	145823892	T	C	T145823892C	SLITRK2	NM_032539.5(SLITRK2):c.1467T>C:p.Asn489=	coding	Benign
X	145824298	T	C	T145824298C	SLITRK2	NM_032539.5(SLITRK2):c.1873T>C:p.Leu625=	coding	Benign
X	147912197	G	T	G147912197T	FMR1	NM_002024.6(FMR1):c.18G>T:p.Val6=	coding	Benign
X	147921961	C	A	C147921961A	FMR1	NM_002024.6(FMR1):c.80C>A:p.Ser27Ter	coding	Pathogenic
X	147922027	A	G	A147922027G	FMR1	NM_002024.5(FMR1):c.104+42A>G	noncoding	Benign
X	147928640	A	G	A147928640G	FMR1	NM_002024.5(FMR1):c.271-19A>G	noncoding	Benign
X	147928736	T	C	T147928736C	FMR1	NM_002024.6(FMR1):c.348T>C:p.Asn116=	coding	Benign
X	147928802	G	A	G147928802A	FMR1	NM_002024.6(FMR1):c.414G>A:p.Arg138=	coding	Benign
X	147928850	T	C	T147928850C	FMR1	NM_002024.5(FMR1):c.419+43T>C	noncoding	Benign
X	147929940	A	G	A147929940G	FMR1	NM_002024.5(FMR1):c.420-8A>G	noncoding	Pathogenic
X	147929961	G	T	G147929961T	FMR1	NM_002024.6(FMR1):c.433G>T:p.Ala145Ser	coding	Benign
X	147932626	C	T	C147932626T	FMR1	NM_002024.5(FMR1):c.801+31C>T	noncoding	Benign
X	147936534	T	A	T147936534A	FMR1	NM_002024.6(FMR1):c.911T>A:p.Ile304Asn	coding	Pathogenic
X	147936614	G	A	G147936614A	FMR1	NM_002024.5(FMR1):c.990+1G>A	coding	Pathogenic
X	147936627	C	T	C147936627T	FMR1	NM_002024.5(FMR1):c.990+14C>T	noncoding	Benign
X	147944969	C	T	C147944969T	FMR1	NM_002024.6(FMR1):c.1572C>T:p.Ser524=	coding	Benign/Likely_benign
X	147948802	C	T	C147948802T	FMR1	NM_002024.6(FMR1):c.1857C>T:p.Asp619=	coding	Benign/Likely_benign
X	147949590	T	C	T147949590C	FMR1	NM_002024.6(FMR1):c.*746T>C	noncoding	Benign
X	148652027	A	T	A148652027T	AFF2	NM_002025.4(AFF2):c.76A>T:p.Lys26Ter	coding	Pathogenic
X	148662220	A	G	A148662220G	AFF2	NM_002025.4(AFF2):c.493A>G:p.Asn165Asp	coding	Benign/Likely_benign
X	148662223	C	T	C148662223T	AFF2	NM_002025.4(AFF2):c.496C>T:p.Pro166Ser	coding	Benign/Likely_benign
X	148837681	C	A	C148837681A	AFF2	NM_002025.4(AFF2):c.1121C>A:p.Ser374Tyr	coding	Benign
X	148953670	G	A	G148953670A	AFF2	NM_002025.4(AFF2):c.1488G>A:p.Ser496=	coding	Benign
X	148955698	A	G	A148955698G	AFF2	NM_002025.4(AFF2):c.1653A>G:p.Thr551=	coding	Benign
X	148955833	C	A	C148955833A	AFF2	NM_002025.4(AFF2):c.1788C>A:p.Ala596=	coding	Benign
X	148956226	C	T	C148956226T	AFF2	NM_002025.4(AFF2):c.2181C>T:p.Thr727=	coding	Benign/Likely_benign
X	148956241	C	T	C148956241T	AFF2	NM_002025.4(AFF2):c.2196C>T:p.Val732=	coding	Benign
X	148958424	C	G	C148958424G	AFF2	NM_002025.4(AFF2):c.2656C>G:p.Pro886Ala	coding	Benign/Likely_benign
X	148967654	C	T	C148967654T	AFF2	NM_002025.4(AFF2):c.3229C>T:p.Gln1077Ter	coding	Pathogenic
X	148973614	A	G	A148973614G	AFF2	NM_002025.4(AFF2):c.3404+7A>G	noncoding	Benign
X	148977976	G	T	G148977976T	AFF2	NM_002025.4(AFF2):c.3448G>T:p.Asp1150Tyr	coding	Pathogenic
X	148987439	A	T	A148987439T	AFF2	NM_002025.4(AFF2):c.3696A>T:p.Pro1232=	coding	Benign/Likely_benign
X	149482808	G	A	G149482808A	IDS	NM_000202.8(IDS):c.1591C>T:p.Gln531Ter	coding	Pathogenic
X	149482894	C	G	C149482894G	IDS	NM_000202.8(IDS):c.1505G>C:p.Trp502Ser	coding	Pathogenic
X	149482900	G	A	G149482900A	IDS	NM_000202.8(IDS):c.1499C>T:p.Thr500Ile	coding	Benign
X	149482909	T	C	T149482909C	IDS	NM_000202.8(IDS):c.1490A>G:p.Tyr497Cys	coding	Benign
X	149482966	T	C	T149482966C	IDS	NM_000202.8(IDS):c.1433A>G:p.Asp478Gly	coding	Pathogenic
X	149482974	C	T	C149482974T	IDS	NM_000202.8(IDS):c.1425G>A:p.Trp475Ter	coding	Pathogenic
X	149482996	C	A	C149482996A	IDS	NM_000202.8(IDS):c.1403G>T:p.Arg468Leu	coding	Pathogenic
X	149482996	C	G	C149482996G	IDS	NM_000202.8(IDS):c.1403G>C:p.Arg468Pro	coding	Pathogenic
X	149482996	C	T	C149482996T	IDS	NM_000202.8(IDS):c.1403G>A:p.Arg468Gln	coding	Pathogenic
X	149482997	G	A	G149482997A	IDS	NM_000202.8(IDS):c.1402C>T:p.Arg468Trp	coding	Pathogenic
X	149483006	G	A	G149483006A	IDS	NM_000202.8(IDS):c.1393C>T:p.Gln465Ter	coding	Pathogenic
X	149483072	G	A	G149483072A	IDS	NM_000202.8(IDS):c.1327C>T:p.Arg443Ter	coding	Pathogenic
X	149483130	G	A	G149483130A	IDS	NM_000202.8(IDS):c.1269C>T:p.Pro423=	coding	Benign
X	149483134	C	A	C149483134A	IDS	NM_000202.8(IDS):c.1265G>T:p.Cys422Phe	coding	Pathogenic
X	149483134	C	T	C149483134T	IDS	NM_000202.8(IDS):c.1265G>A:p.Cys422Tyr	coding	Pathogenic/Likely_pathogenic
X	149483135	A	C	A149483135C	IDS	NM_000202.8(IDS):c.1264T>G:p.Cys422Gly	coding	Pathogenic
X	149483219	C	T	C149483219T	IDS	NM_000202.8(IDS):c.1181-1G>A	coding	Pathogenic
X	149486946	C	T	C149486946T	IDS	NM_000202.8(IDS):c.1159G>A:p.Ala387Thr	coding	Benign
X	149486962	G	A	G149486962A	IDS	NM_000202.8(IDS):c.1143C>T:p.Leu381=	coding	Benign
X	149486983	G	A	G149486983A	IDS	NM_000202.8(IDS):c.1122C>T:p.Gly374=	coding	Pathogenic
X	149486999	G	T	G149486999T	IDS	NM_000202.8(IDS):c.1106C>A:p.Ser369Ter	coding	Pathogenic
X	149487006	T	A	T149487006A	IDS	NM_000202.8(IDS):c.1099A>T:p.Thr367Ser	coding	Pathogenic
X	149487031	G	C	G149487031C	IDS	NM_000202.8(IDS):c.1074C>G:p.Pro358=	coding	Benign/Likely_benign
X	149487061	G	C	G149487061C	IDS	NM_000202.8(IDS):c.1044C>G:p.Tyr348Ter	coding	Pathogenic
X	149487072	A	T	A149487072T	IDS	NM_000202.8(IDS):c.1033T>A:p.Trp345Arg	coding	Pathogenic
X	149487089	A	G	A149487089G	IDS	NM_000202.8(IDS):c.1016T>C:p.Leu339Pro	coding	Pathogenic
X	149487106	A	C	A149487106C	IDS	NM_000202.8(IDS):c.1007-8T>G	noncoding	Pathogenic
X	149490313	C	A	C149490313A	IDS	NM_000202.8(IDS):c.1006+1G>T	noncoding	Pathogenic
X	149490322	G	A	G149490322A	IDS	NM_000202.8(IDS):c.998C>T:p.Ser333Leu	coding	Pathogenic
X	149490363	G	A	G149490363A	IDS	NM_000202.8(IDS):c.957C>T:p.Asp319=	coding	Benign/Likely_benign
X	149490383	G	A	G149490383A	IDS	NM_000202.8(IDS):c.937C>T:p.Arg313Cys	coding	Benign
X	149490385	C	T	C149490385T	IDS	NM_000202.8(IDS):c.935G>A:p.Gly312Asp	coding	Pathogenic
X	149490395	T	C	T149490395C	IDS	NM_000202.8(IDS):c.925A>G:p.Thr309Ala	coding	Benign
X	149490436	T	A	T149490436A	IDS	NM_000202.8(IDS):c.884A>T:p.Lys295Ile	coding	Pathogenic
X	149490436	T	C	T149490436C	IDS	NM_000202.8(IDS):c.884A>G:p.Lys295Arg	coding	Benign
X	149490439	C	T	C149490439T	IDS	NM_000202.8(IDS):c.881G>A:p.Arg294Gln	coding	Benign
X	149496374	G	A	G149496374A	IDS	NM_000202.8(IDS):c.851C>T:p.Pro284Leu	coding	Benign
X	149496376	C	G	C149496376G	IDS	NM_000202.8(IDS):c.849G>C:p.Val283=	coding	Benign
X	149496400	G	A	G149496400A	IDS	NM_000202.8(IDS):c.825C>T:p.Asp275=	coding	Benign
X	149496405	C	A	C149496405A	IDS	NM_000202.8(IDS):c.820G>T:p.Glu274Ter	coding	Pathogenic
X	149496444	G	C	G149496444C	IDS	NM_000202.8(IDS):c.781C>G:p.Pro261Ala	coding	Benign/Likely_benign
X	149496472	G	A	G149496472A	IDS	NM_000202.8(IDS):c.753C>T:p.Pro251=	coding	Benign/Likely_benign
X	149496498	G	A	G149496498A	IDS	NM_000202.8(IDS):c.727C>T:p.Pro243Ser	coding	Benign
X	149497196	G	A	G149497196A	IDS	NM_000202.8(IDS):c.709-680C>T	noncoding	Benign
X	149498106	C	A	C149498106A	IDS	NM_000202.8(IDS):c.708+1G>T	noncoding	Pathogenic
X	149498106	C	T	C149498106T	IDS	NM_000202.8(IDS):c.708+1G>A	noncoding	Pathogenic
X	149498113	G	T	G149498113T	IDS	NM_000202.8(IDS):c.702C>A:p.Tyr234Ter	coding	Pathogenic
X	149498119	G	A	G149498119A	IDS	NM_000202.8(IDS):c.696C>T:p.Phe232=	coding	Benign
X	149498131	T	C	T149498131C	IDS	NM_000202.8(IDS):c.684A>G:p.Pro228=	coding	Benign
X	149498132	G	T	G149498132T	IDS	NM_000202.8(IDS):c.683C>A:p.Pro228Gln	coding	Pathogenic
X	149498148	C	T	C149498148T	IDS	NM_000202.8(IDS):c.667G>A:p.Val223Ile	coding	Benign/Likely_benign
X	149498149	G	A	G149498149A	IDS	NM_000202.8(IDS):c.666C>T:p.Ala222=	coding	Benign
X	149498202	C	G	C149498202G	IDS	NM_000202.8(IDS):c.613G>C:p.Ala205Pro	coding	Pathogenic
X	149498205	G	A	G149498205A	IDS	NM_000202.8(IDS):c.610C>T:p.Gln204Ter	coding	Pathogenic
X	149498223	C	T	C149498223T	IDS	NM_000202.8(IDS):c.592G>A:p.Asp198Asn	coding	Pathogenic/Likely_pathogenic
X	149498228	A	G	A149498228G	IDS	NM_000202.8(IDS):c.587T>C:p.Leu196Ser	coding	Pathogenic
X	149498301	G	A	G149498301A	IDS	NM_000202.8(IDS):c.514C>T:p.Arg172Ter	coding	Pathogenic
X	149498308	C	G	C149498308G	IDS	NM_000202.8(IDS):c.508-1G>C	coding	Pathogenic
X	149498308	C	T	C149498308T	IDS	NM_000202.8(IDS):c.508-1G>A	coding	Pathogenic
X	149500977	G	C	G149500977C	IDS	NM_000202.8(IDS):c.479C>G:p.Pro160Arg	coding	Pathogenic
X	149500987	G	A	G149500987A	IDS	NM_000202.8(IDS):c.469C>T:p.Pro157Ser	coding	Pathogenic
X	149500989	G	T	G149500989T	IDS	NM_000202.8(IDS):c.467C>A:p.Pro156Gln	coding	Benign
X	149500991	A	T	A149500991T	IDS	NM_000202.8(IDS):c.465T>A:p.Phe155Leu	coding	Benign
X	149501006	C	T	C149501006T	IDS	NM_000202.8(IDS):c.450G>A:p.Pro150=	coding	Benign
X	149501011	A	C	A149501011C	IDS	NM_000202.8(IDS):c.445T>G:p.Ser149Ala	coding	Benign/Likely_benign
X	149501018	G	A	G149501018A	IDS	NM_000202.8(IDS):c.438C>T:p.Thr146=	coding	Benign
X	149501031	G	T	G149501031T	IDS	NM_000202.8(IDS):c.425C>A:p.Ser142Tyr	coding	Pathogenic
X	149501038	C	T	C149501038T	IDS	NM_000202.8(IDS):c.419-1G>A	coding	Pathogenic
X	149503311	C	G	C149503311G	IDS	NM_000202.8(IDS):c.418+1G>C	noncoding	Pathogenic
X	149503326	T	C	T149503326C	IDS	NM_000202.8(IDS):c.404A>G:p.Lys135Arg	coding	Pathogenic
X	149503329	C	T	C149503329T	IDS	NM_000202.8(IDS):c.401G>A:p.Gly134Glu	coding	Pathogenic
X	149503371	G	T	G149503371T	IDS	NM_000202.8(IDS):c.359C>A:p.Pro120His	coding	Pathogenic
X	149503421	G	C	G149503421C	IDS	NM_000202.8(IDS):c.309C>G:p.Tyr103Ter	coding	Pathogenic
X	149503467	C	T	C149503467T	IDS	NM_000202.8(IDS):c.263G>A:p.Arg88His	coding	Pathogenic
X	149503468	G	A	G149503468A	IDS	NM_000202.8(IDS):c.262C>T:p.Arg88Cys	coding	Pathogenic
X	149503473	G	A	G149503473A	IDS	NM_000202.8(IDS):c.257C>T:p.Pro86Leu	coding	Pathogenic
X	149503477	C	T	C149503477T	IDS	NM_000202.8(IDS):c.253G>A:p.Ala85Thr	coding	Pathogenic
X	149503478	G	T	G149503478T	IDS	NM_000202.8(IDS):c.252C>A:p.Cys84Ter	coding	Pathogenic
X	149503494	T	A	T149503494A	IDS	NM_000202.8(IDS):c.241-5A>T	noncoding	Pathogenic
X	149504159	G	A	G149504159A	IDS	NM_000202.8(IDS):c.238C>T:p.Gln80Ter	coding	Pathogenic
X	149504163	A	G	A149504163G	IDS	NM_000202.8(IDS):c.234T>C:p.Phe78=	coding	Benign
X	149504201	G	A	G149504201A	IDS	NM_000202.8(IDS):c.196C>T:p.Gln66Ter	coding	Pathogenic
X	149504206	A	T	A149504206T	IDS	NM_000202.8(IDS):c.191T>A:p.Ile64Asn	coding	Pathogenic
X	149504216	A	G	A149504216G	IDS	NM_000202.8(IDS):c.181T>C:p.Ser61Pro	coding	Pathogenic
X	149504235	A	G	A149504235G	IDS	NM_000202.8(IDS):c.162T>C:p.Tyr54=	coding	Benign
X	149504271	G	A	G149504271A	IDS	NM_000202.8(IDS):c.126C>T:p.Ile42=	coding	Benign/Likely_benign
X	149504274	G	C	G149504274C	IDS	NM_000202.8(IDS):c.123C>G:p.Leu41=	coding	Benign/Likely_benign
X	149505028	G	A	G149505028A	IDS	NM_000202.8(IDS):c.103+7C>T	noncoding	Benign
X	149505030	G	A	G149505030A	IDS	NM_000202.8(IDS):c.103+5C>T	noncoding	Benign/Likely_benign
X	149505034	C	G	C149505034G	IDS	NM_000202.8(IDS):c.103+1G>C	noncoding	Pathogenic
X	149505115	C	A	C149505115A	IDS	NM_000202.8(IDS):c.23G>T:p.Arg8Leu	coding	Benign
X	149505116	G	A	G149505116A	IDS	NM_000202.8(IDS):c.22C>T:p.Arg8Ter	coding	Pathogenic
X	150462831	A	G	A150462831G	MAMLD1	NM_001177465.3(MAMLD1):c.97-6914A>G	coding	Benign
X	150469967	G	T	G150469967T	MAMLD1	NM_001177465.3(MAMLD1):c.319G>T:p.Glu107Ter	coding	Pathogenic
X	150470162	G	T	G150470162T	MAMLD1	NM_001177465.3(MAMLD1):c.514G>T:p.Glu172Ter	coding	Pathogenic
X	150470178	C	T	C150470178T	MAMLD1	NM_001177465.3(MAMLD1):c.530C>T:p.Thr177Met	coding	Benign
X	150470381	C	T	C150470381T	MAMLD1	NM_001177465.3(MAMLD1):c.733C>T:p.Gln245Ter	coding	Pathogenic
X	150470432	G	A	G150470432A	MAMLD1	NM_001177465.3(MAMLD1):c.784G>A:p.Ala262Thr	coding	Benign
X	150470499	C	T	C150470499T	MAMLD1	NM_001177465.3(MAMLD1):c.851C>T:p.Ala284Val	coding	Benign
X	150470614	C	A	C150470614A	MAMLD1	NM_001177465.3(MAMLD1):c.966C>A:p.His322Gln	coding	Benign
X	150471087	T	C	T150471087C	MAMLD1	NM_001177465.3(MAMLD1):c.1439T>C:p.Val480Ala	coding	Benign
X	150471301	G	A	G150471301A	MAMLD1	NM_001177465.3(MAMLD1):c.1653G>A:p.Pro551=	coding	Benign
X	150471448	G	A	G150471448A	MAMLD1	NM_001177465.3(MAMLD1):c.1800G>A:p.Gln600=	coding	Benign
X	150473801	T	C	T150473801C	MAMLD1	NM_001177465.3(MAMLD1):c.1842+2311T>C	coding	Benign
X	150503409	C	T	C150503409T	MAMLD1	NM_001177465.3(MAMLD1):c.1843-6553C>T	coding	Pathogenic
X	150503453	C	A	C150503453A	MAMLD1	NM_001177465.3(MAMLD1):c.1843-6509C>A	coding	Benign
X	150503525	A	T	A150503525T	MAMLD1	NM_001177465.3(MAMLD1):c.1843-6437A>T	noncoding	Benign
X	150512085	C	T	C150512085T	MAMLD1	NM_001177465.3(MAMLD1):c.2009C>T:p.Thr670Ile	coding	Benign
X	150592616	T	G	T150592616G	MTM1	NM_000252.2(MTM1):c.2T>G:p.Met1Arg	coding	Pathogenic
X	150592617	G	A	G150592617A	MTM1	NM_000252.2(MTM1):c.3G>A:p.Met1Ile	coding	Pathogenic
X	150592663	G	T	G150592663T	MTM1	NM_000252.2(MTM1):c.49G>T:p.Glu17Ter	coding	Pathogenic
X	150592669	A	C	A150592669C	MTM1	NM_000252.3(MTM1):c.55A>C:p.Ile19Leu	coding	Benign
X	150592678	G	A	G150592678A	MTM1	NM_000252.2(MTM1):c.63+1G>A	coding	Pathogenic
X	150596484	T	C	T150596484C	MTM1	NM_000252.2(MTM1):c.64-14T>C	noncoding	Benign
X	150596496	A	G	A150596496G	MTM1	NM_000252.2(MTM1):c.64-2A>G	noncoding	Pathogenic
X	150596497	G	A	G150596497A	MTM1	NM_000252.2(MTM1):c.64-1G>A	noncoding	Pathogenic
X	150596504	C	T	C150596504T	MTM1	NM_000252.2(MTM1):c.70C>T:p.Arg24Ter	coding	Pathogenic
X	150596519	C	T	C150596519T	MTM1	NM_000252.2(MTM1):c.85C>T:p.Arg29Ter	coding	Pathogenic
X	150596543	C	T	C150596543T	MTM1	NM_000252.2(MTM1):c.109C>T:p.Arg37Ter	coding	Pathogenic
X	150596571	G	T	G150596571T	MTM1	NM_000252.3(MTM1):c.136+1G>T	coding	Pathogenic
X	150596579	C	T	C150596579T	MTM1	NM_000252.2(MTM1):c.136+9C>T	noncoding	Benign
X	150596587	A	G	A150596587G	MTM1	NM_000252.2(MTM1):c.136+17A>G	noncoding	Benign
X	150598581	T	A	T150598581A	MTM1	NM_000252.2(MTM1):c.137-11T>A	noncoding	Pathogenic
X	150598600	G	A	G150598600A	MTM1	NM_000252.2(MTM1):c.145G>A:p.Val49Ile	coding	Pathogenic
X	150598600	G	T	G150598600T	MTM1	NM_000252.2(MTM1):c.145G>T:p.Val49Phe	coding	Pathogenic
X	150598631	T	C	T150598631C	MTM1	NM_000252.3(MTM1):c.176T>C:p.Ile59Thr	coding	Benign
X	150598660	C	G	C150598660G	MTM1	NM_000252.2(MTM1):c.205C>G:p.Arg69Gly	coding	Pathogenic
X	150598660	C	T	C150598660T	MTM1	NM_000252.2(MTM1):c.205C>T:p.Arg69Cys	coding	Pathogenic
X	150598663	C	T	C150598663T	MTM1	NM_000252.2(MTM1):c.208C>T:p.Leu70Phe	coding	Pathogenic
X	150598681	G	T	G150598681T	MTM1	NM_000252.2(MTM1):c.226G>T:p.Glu76Ter	coding	Pathogenic
X	150598685	C	T	C150598685T	MTM1	NM_000252.3(MTM1):c.230C>T:p.Thr77Met	coding	Benign
X	150598687	G	A	G150598687A	MTM1	NM_000252.2(MTM1):c.231+1G>A	coding	Pathogenic
X	150598688	T	G	T150598688G	MTM1	NM_000252.2(MTM1):c.231+2T>G	noncoding	Pathogenic
X	150614442	G	C	G150614442C	MTM1	NM_000252.2(MTM1):c.232-147G>C	noncoding	Benign
X	150614586	C	A	C150614586A	MTM1	NM_000252.2(MTM1):c.232-3C>A	noncoding	Pathogenic
X	150614587	A	C	A150614587C	MTM1	NM_000252.2(MTM1):c.232-2A>C	noncoding	Pathogenic
X	150614588	G	A	G150614588A	MTM1	NM_000252.2(MTM1):c.232-1G>A	noncoding	Pathogenic
X	150614617	T	C	T150614617C	MTM1	NM_000252.2(MTM1):c.260T>C:p.Leu87Pro	coding	Pathogenic
X	150614658	A	G	A150614658G	MTM1	NM_000252.2(MTM1):c.301A>G:p.Ser101Gly	coding	Pathogenic
X	150614696	T	C	T150614696C	MTM1	NM_000252.2(MTM1):c.339T>C:p.Cys113=	coding	Benign
X	150614697	A	T	A150614697T	MTM1	NM_000252.2(MTM1):c.340A>T:p.Lys114Ter	coding	Pathogenic
X	150614700	G	A	G150614700A	MTM1	NM_000252.2(MTM1):c.342+1G>A	coding	Pathogenic
X	150614805	C	G	C150614805G	MTM1	NM_000252.2(MTM1):c.342+106C>G	noncoding	Benign
X	150619036	A	G	A150619036G	MTM1	NM_000252.2(MTM1):c.343-2A>G	noncoding	Pathogenic
X	150619115	C	G	C150619115G	MTM1	NM_000252.2(MTM1):c.420C>G:p.Tyr140Ter	coding	Pathogenic
X	150619117	C	T	C150619117T	MTM1	NM_000252.2(MTM1):c.422C>T:p.Ala141Val	coding	Benign/Likely_benign
X	150619140	G	A	G150619140A	MTM1	NM_000252.2(MTM1):c.444+1G>A	coding	Pathogenic
X	150638967	G	A	G150638967A	MTM1	NM_000252.2(MTM1):c.469G>A:p.Glu157Lys	coding	Pathogenic
X	150639012	G	T	G150639012T	MTM1	NM_000252.2(MTM1):c.514G>T:p.Glu172Ter	coding	Pathogenic
X	150639027	G	T	G150639027T	MTM1	NM_000252.2(MTM1):c.528+1G>T	coding	Pathogenic
X	150639096	G	A	G150639096A	MTM1	NM_000252.2(MTM1):c.528+70G>A	noncoding	Benign
X	150641012	C	G	C150641012G	MTM1	NM_000252.2(MTM1):c.529-257C>G	noncoding	Benign
X	150641267	A	G	A150641267G	MTM1	NM_000252.2(MTM1):c.529-2A>G	noncoding	Pathogenic
X	150641275	C	T	C150641275T	MTM1	NM_000252.2(MTM1):c.535C>T:p.Pro179Ser	coding	Pathogenic
X	150641286	T	C	T150641286C	MTM1	NM_000252.3(MTM1):c.546T>C:p.His182=	coding	Benign
X	150641289	G	A	G150641289A	MTM1	NM_000252.2(MTM1):c.549G>A:p.Trp183Ter	coding	Pathogenic
X	150641290	A	G	A150641290G	MTM1	NM_000252.2(MTM1):c.550A>G:p.Arg184Gly	coding	Pathogenic
X	150641297	C	T	C150641297T	MTM1	NM_000252.2(MTM1):c.557C>T:p.Thr186Ile	coding	Pathogenic
X	150641301	T	C	T150641301C	MTM1	NM_000252.2(MTM1):c.561T>C:p.Phe187=	coding	Benign
X	150641306	A	G	A150641306G	MTM1	NM_000252.2(MTM1):c.566A>G:p.Asn189Ser	coding	Pathogenic
X	150641322	C	T	C150641322T	MTM1	NM_000252.2(MTM1):c.582C>T:p.Leu194=	coding	Benign/Likely_benign
X	150641333	A	C	A150641333C	MTM1	NM_000252.2(MTM1):c.593A>C:p.Tyr198Ser	coding	Pathogenic
X	150641351	T	G	T150641351G	MTM1	NM_000252.2(MTM1):c.611T>G:p.Val204Gly	coding	Pathogenic
X	150641354	C	T	C150641354T	MTM1	NM_000252.2(MTM1):c.614C>T:p.Pro205Leu	coding	Pathogenic
X	150641355	G	A	G150641355A	MTM1	NM_000252.3(MTM1):c.615G>A:p.Pro205=	coding	Benign
X	150641360	G	A	G150641360A	MTM1	NM_000252.3(MTM1):c.620G>A:p.Arg207His	coding	Benign
X	150641369	A	G	A150641369G	MTM1	NM_000252.2(MTM1):c.629A>G:p.Asp210Gly	coding	Pathogenic
X	150641377	C	T	C150641377T	MTM1	NM_000252.2(MTM1):c.637C>T:p.Leu213Phe	coding	Pathogenic
X	150641404	C	T	C150641404T	MTM1	NM_000252.2(MTM1):c.664C>T:p.Arg222Ter	coding	Pathogenic
X	150641410	C	T	C150641410T	MTM1	NM_000252.2(MTM1):c.670C>T:p.Arg224Ter	coding	Pathogenic
X	150641419	G	A	G150641419A	MTM1	NM_000252.2(MTM1):c.678+1G>A	coding	Pathogenic
X	150645683	G	A	G150645683A	MTM1	NM_000252.2(MTM1):c.679G>A:p.Val227Met	coding	Pathogenic
X	150645687	T	C	T150645687C	MTM1	NM_000252.2(MTM1):c.683T>C:p.Leu228Pro	coding	Pathogenic
X	150645688	G	C	G150645688C	MTM1	NM_000252.2(MTM1):c.684G>C:p.Leu228=	coding	Benign
X	150645725	C	T	C150645725T	MTM1	NM_000252.2(MTM1):c.721C>T:p.Arg241Cys	coding	Pathogenic
X	150645734	C	T	C150645734T	MTM1	NM_000252.3(MTM1):c.730C>T:p.Gln244Ter	coding	Pathogenic
X	150645761	C	T	C150645761T	MTM1	NM_000252.2(MTM1):c.757C>T:p.Arg253Ter	coding	Pathogenic
X	150645783	A	C	A150645783C	MTM1	NM_000252.2(MTM1):c.779A>C:p.Tyr260Ser	coding	Pathogenic
X	150645787	C	T	C150645787T	MTM1	NM_000252.3(MTM1):c.783C>T:p.Leu261=	coding	Benign
X	150645795	T	G	T150645795G	MTM1	NM_000252.2(MTM1):c.791T>G:p.Ile264Ser	coding	Pathogenic
X	150645872	G	A	G150645872A	MTM1	NM_000252.2(MTM1):c.867+1G>A	coding	Pathogenic
X	150646051	A	C	A150646051C	MTM1	NM_000252.2(MTM1):c.867+180A>C	noncoding	Benign
X	150649761	G	A	G150649761A	MTM1	NM_000252.2(MTM1):c.913G>A:p.Glu305Lys	coding	Benign
X	150649806	T	C	T150649806C	MTM1	NM_000252.2(MTM1):c.958T>C:p.Ser320Pro	coding	Pathogenic
X	150649888	T	G	T150649888G	MTM1	NM_000252.2(MTM1):c.1040T>G:p.Leu347Ter	coding	Pathogenic
X	150649902	G	A	G150649902A	MTM1	NM_000252.2(MTM1):c.1053+1G>A	coding	Pathogenic
X	150649902	G	C	G150649902C	MTM1	NM_000252.2(MTM1):c.1053+1G>C	coding	Pathogenic
X	150657887	C	G	C150657887G	MTM1	NM_000252.2(MTM1):c.1120C>G:p.His374Asp	coding	Pathogenic
X	150657899	G	A	G150657899A	MTM1	NM_000252.2(MTM1):c.1132G>A:p.Gly378Arg	coding	Pathogenic/Likely_pathogenic
X	150657903	G	A	G150657903A	MTM1	NM_000252.2(MTM1):c.1136G>A:p.Trp379Ter	coding	Pathogenic
X	150657904	G	A	G150657904A	MTM1	NM_000252.2(MTM1):c.1137G>A:p.Trp379Ter	coding	Pathogenic
X	150657906	A	T	A150657906T	MTM1	NM_000252.2(MTM1):c.1139A>T:p.Asp380Val	coding	Pathogenic
X	150657927	C	A	C150657927A	MTM1	NM_000252.2(MTM1):c.1160C>A:p.Ser387Tyr	coding	Pathogenic
X	150657957	A	G	A150657957G	MTM1	NM_000252.2(MTM1):c.1190A>G:p.Tyr397Cys	coding	Pathogenic
X	150657958	T	G	T150657958G	MTM1	NM_000252.2(MTM1):c.1191T>G:p.Tyr397Ter	coding	Pathogenic
X	150657972	G	C	G150657972C	MTM1	NM_000252.2(MTM1):c.1205G>C:p.Gly402Ala	coding	Pathogenic
X	150657977	G	A	G150657977A	MTM1	NM_000252.2(MTM1):c.1210G>A:p.Glu404Lys	coding	Pathogenic
X	150657980	A	G	A150657980G	MTM1	NM_000252.3(MTM1):c.1213A>G:p.Ile405Val	coding	Benign
X	150657999	G	A	G150657999A	MTM1	NM_000252.2(MTM1):c.1232G>A:p.Trp411Ter	coding	Pathogenic
X	150658011	G	A	G150658011A	MTM1	NM_000252.2(MTM1):c.1244G>A:p.Gly415Glu	coding	Pathogenic
X	150658021	T	C	T150658021C	MTM1	NM_000252.2(MTM1):c.1254T>C:p.Phe418=	coding	Benign
X	150658028	G	A	G150658028A	MTM1	NM_000252.2(MTM1):c.1260+1G>A	coding	Pathogenic
X	150658030	G	A	G150658030A	MTM1	NM_000252.3(MTM1):c.1260+3G>A	noncoding	Benign/Likely_benign
X	150658044	A	G	A150658044G	MTM1	NM_000252.2(MTM1):c.1260+17A>G	noncoding	Benign
X	150658267	A	G	A150658267G	MTM1	NM_000252.2(MTM1):c.1260+240A>G	noncoding	Benign
X	150659654	A	G	A150659654G	MTM1	NM_000252.2(MTM1):c.1261-10A>G	noncoding	Pathogenic
X	150659663	G	C	G150659663C	MTM1	NM_000252.2(MTM1):c.1261-1G>C	noncoding	Pathogenic
X	150659664	C	T	C150659664T	MTM1	NM_000252.2(MTM1):c.1261C>T:p.Arg421Ter	coding	Pathogenic
X	150659665	G	A	G150659665A	MTM1	NM_000252.2(MTM1):c.1262G>A:p.Arg421Gln	coding	Pathogenic
X	150659665	G	T	G150659665T	MTM1	NM_000252.2(MTM1):c.1262G>T:p.Arg421Leu	coding	Pathogenic
X	150659693	C	T	C150659693T	MTM1	NM_000252.3(MTM1):c.1290C>T:p.Thr430=	coding	Benign
X	150659740	G	A	G150659740A	MTM1	NM_000252.2(MTM1):c.1337G>A:p.Trp446Ter	coding	Pathogenic
X	150659757	G	A	G150659757A	MTM1	NM_000252.2(MTM1):c.1353+1G>A	coding	Pathogenic
X	150659758	T	C	T150659758C	MTM1	NM_000252.2(MTM1):c.1353+2T>C	noncoding	Pathogenic
X	150660370	G	A	G150660370A	MTM1	NM_000252.2(MTM1):c.1354-1G>A	noncoding	Pathogenic
X	150660393	A	T	A150660393T	MTM1	NM_000252.2(MTM1):c.1376A>T:p.Asn459Ile	coding	Pathogenic
X	150660395	G	T	G150660395T	MTM1	NM_000252.2(MTM1):c.1378G>T:p.Glu460Ter	coding	Pathogenic
X	150660398	C	T	C150660398T	MTM1	NM_000252.2(MTM1):c.1381C>T:p.Gln461Ter	coding	Pathogenic
X	150660437	C	T	C150660437T	MTM1	NM_000252.2(MTM1):c.1420C>T:p.Arg474Ter	coding	Pathogenic
X	150660444	G	T	G150660444T	MTM1	NM_000252.2(MTM1):c.1427G>T:p.Gly476Val	coding	Pathogenic
X	150660450	T	C	T150660450C	MTM1	NM_000252.2(MTM1):c.1433T>C:p.Phe478Ser	coding	Pathogenic
X	150660471	C	T	C150660471T	MTM1	NM_000252.2(MTM1):c.1454C>T:p.Ala485Val	coding	Benign/Likely_benign
X	150660473	C	T	C150660473T	MTM1	NM_000252.2(MTM1):c.1456C>T:p.Arg486Ter	coding	Pathogenic
X	150660485	G	A	G150660485A	MTM1	NM_000252.2(MTM1):c.1467+1G>A	coding	Pathogenic
X	150660485	G	T	G150660485T	MTM1	NM_000252.2(MTM1):c.1467+1G>T	coding	Pathogenic
X	150660486	T	A	T150660486A	MTM1	NM_000252.2(MTM1):c.1467+2T>A	noncoding	Pathogenic
X	150663423	C	T	C150663423T	MTM1	NM_000252.2(MTM1):c.1468-10C>T	noncoding	Benign/Likely_benign
X	150663460	T	C	T150663460C	MTM1	NM_000252.2(MTM1):c.1495T>C:p.Trp499Arg	coding	Pathogenic
X	150663523	C	T	C150663523T	MTM1	NM_000252.2(MTM1):c.1558C>T:p.Arg520Ter	coding	Pathogenic
X	150663576	C	A	C150663576A	MTM1	NM_000252.2(MTM1):c.1611C>A:p.Tyr537Ter	coding	Pathogenic
X	150663610	G	A	G150663610A	MTM1	NM_000252.3(MTM1):c.1644+1G>A	coding	Pathogenic
X	150663610	G	T	G150663610T	MTM1	NM_000252.2(MTM1):c.1644+1G>T	coding	Pathogenic
X	150671485	A	G	A150671485G	MTM1	NM_000252.2(MTM1):c.1702A>G:p.Ile568Val	coding	Benign
X	150671512	G	A	G150671512A	MTM1	NM_000252.3(MTM1):c.1729G>A:p.Ala577Thr	coding	Benign
X	150671576	A	G	A150671576G	MTM1	NM_000252.3(MTM1):c.1793A>G:p.His598Arg	coding	Benign
X	150736591	G	A	G150736591A	MTMR1	NM_001306144.3(MTMR1):c.1081-4G>A	noncoding	Benign
X	150769064	C	T	C150769064T	CD99L2	NM_031462.4(CD99L2):c.759G>A:p.Pro253=	coding	Benign
X	150777456	C	T	C150777456T	CD99L2	NM_031462.4(CD99L2):c.523G>A:p.Asp175Asn	coding	Benign/Likely_benign
X	151180090	C	T	C151180090T	GPR50	NM_004224.3(GPR50):c.507C>T:p.Ile169=	coding	Benign
X	151180138	C	T	C151180138T	GPR50	NM_004224.3(GPR50):c.555C>T:p.Asn185=	coding	Benign
X	151181272	G	A	G151181272A	GPR50	NM_004224.3(GPR50):c.1689G>A:p.Ser563=	coding	Benign
X	151403604	A	C	A151403604C	VMA21	NM_001017980.3(VMA21):c.54-27A>C	noncoding	Pathogenic
X	151403604	A	T	A151403604T	VMA21	NM_001017980.3(VMA21):c.54-27A>T	noncoding	Pathogenic
X	151403721	T	G	T151403721G	VMA21	NM_001017980.3(VMA21):c.144T>G:p.Thr48=	coding	Benign
X	151403744	A	G	A151403744G	VMA21	NM_001017980.3(VMA21):c.163+4A>G	noncoding	Pathogenic
X	151404909	T	G	T151404909G	VMA21	NM_001017980.3(VMA21):c.164-7T>G	noncoding	Pathogenic
X	151404910	T	G	T151404910G	VMA21	NM_001017980.3(VMA21):c.164-6T>G	noncoding	Pathogenic
X	151404917	C	T	C151404917T	VMA21	NM_001017980.3(VMA21):c.165C>T:p.Gly55=	coding	Benign
X	151404934	A	G	A151404934G	VMA21	NM_001017980.3(VMA21):c.182A>G:p.Asn61Ser	coding	Benign
X	151404977	C	T	C151404977T	VMA21	NM_001017980.3(VMA21):c.225C>T:p.Ala75=	coding	Benign
X	151405024	G	C	G151405024C	VMA21	NM_001017980.3(VMA21):c.272G>C:p.Gly91Ala	coding	Pathogenic
X	151738527	A	C	A151738527C	CNGA2	NM_005140.1(CNGA2):c.44A>C:p.Asn15Thr	coding	Benign
X	151738784	C	T	C151738784T	CNGA2	NM_005140.1(CNGA2):c.111-3C>T	noncoding	Benign
X	151739696	G	T	G151739696T	CNGA2	NM_005140.1(CNGA2):c.338G>T:p.Gly113Val	coding	Benign
X	151739710	G	C	G151739710C	CNGA2	NM_005140.1(CNGA2):c.352G>C:p.Asp118His	coding	Benign
X	151740821	C	T	C151740821T	CNGA2	NM_005140.1(CNGA2):c.402C>T:p.Asp134=	coding	Benign
X	151743138	G	A	G151743138A	CNGA2	NM_005140.1(CNGA2):c.635G>A:p.Arg212Gln	coding	Benign
X	151743456	G	A	G151743456A	CNGA2	NM_005140.1(CNGA2):c.953G>A:p.Gly318Asp	coding	Benign
X	151743699	G	A	G151743699A	CNGA2	NM_005140.1(CNGA2):c.1196G>A:p.Arg399Gln	coding	Benign
X	151744030	G	A	G151744030A	CNGA2	NM_005140.1(CNGA2):c.1527G>A:p.Gln509=	coding	Benign
X	151744358	C	T	C151744358T	CNGA2	NM_005140.1(CNGA2):c.1855C>T:p.Leu619=	coding	Benign
X	151954868	G	C	G151954868C	GABRE	NM_004961.4(GABRE):c.1354C>G:p.Arg452Gly	coding	Benign
X	151954917	C	G	C151954917G	GABRE	NM_004961.4(GABRE):c.1305G>C:p.Glu435Asp	coding	Benign
X	151955538	A	G	A151955538G	GABRE	NM_004961.4(GABRE):c.967T>C:p.Leu323=	coding	Benign
X	151962587	G	T	G151962587T	GABRE	NM_004961.4(GABRE):c.399C>A:p.Tyr133Ter	coding	Pathogenic
X	151970273	C	T	C151970273T	GABRE	NM_004961.4(GABRE):c.186G>A:p.Gly62=	coding	Benign
X	152168286	T	C	T152168286C	GABRA3	NM_000808.4(GABRA3):c.1421A>G:p.Tyr474Cys	coding	Pathogenic
X	152168369	G	C	G152168369C	GABRA3	NM_000808.4(GABRA3):c.1338C>G:p.Thr446=	coding	Benign
X	152189723	A	G	A152189723G	GABRA3	NM_000808.4(GABRA3):c.1143+7T>C	noncoding	Benign
X	152189820	A	G	A152189820G	GABRA3	NM_000808.4(GABRA3):c.1053T>C:p.Ser351=	coding	Benign
X	152652814	A	T	A152652814T	GABRQ	NM_018558.4(GABRQ):c.1432A>T:p.Ile478Phe	coding	Benign
X	152701141	C	T	C152701141T	MAGEA3	NM_005362.4(MAGEA3):c.309C>T:p.Ser103=	coding	Benign
X	152701636	T	C	T152701636C	MAGEA3	NM_005362.4(MAGEA3):c.804T>C:p.Cys268=	coding	Benign
X	152701711	C	T	C152701711T	MAGEA3	NM_005362.4(MAGEA3):c.879C>T:p.Ile293=	coding	Benign
X	152701755	T	C	T152701755C	MAGEA3	NM_005362.4(MAGEA3):c.923T>C:p.Val308Ala	coding	Benign
X	152701759	G	T	G152701759T	MAGEA3	NM_005362.4(MAGEA3):c.927G>T:p.Leu309Phe	coding	Benign
X	152767019	T	C	T152767019C	MAGEA6	NM_005363.3(MAGEA6):c.632A>G:p.Lys211Arg	coding	Benign
X	152767058	T	C	T152767058C	MAGEA6	NM_005363.3(MAGEA6):c.593A>G:p.Lys198Arg	coding	Benign
X	152767308	T	C	T152767308C	MAGEA6	NM_005363.3(MAGEA6):c.343A>G:p.Lys115Glu	coding	Benign
X	152846349	A	G	A152846349G	NSDHL	NM_015922.3(NSDHL):c.25A>G:p.Met9Val	coding	Benign/Likely_benign
X	152850288	T	G	T152850288G	NSDHL	NM_015922.3(NSDHL):c.132T>G:p.Gly44=	coding	Benign
X	152850418	C	T	C152850418T	NSDHL	NM_015922.3(NSDHL):c.262C>T:p.Arg88Ter	coding	Pathogenic
X	152850430	G	A	G152850430A	NSDHL	NM_015922.3(NSDHL):c.267+7G>A	noncoding	Benign/Likely_benign
X	152858785	C	G	C152858785G	NSDHL	NM_015922.3(NSDHL):c.283C>G:p.Leu95Val	coding	Benign
X	152858808	C	T	C152858808T	NSDHL	NM_015922.3(NSDHL):c.306C>T:p.Phe102=	coding	Benign
X	152858816	C	T	C152858816T	NSDHL	NM_015922.3(NSDHL):c.314C>T:p.Ala105Val	coding	Pathogenic
X	152858853	T	C	T152858853C	NSDHL	NM_015922.3(NSDHL):c.351T>C:p.Phe117=	coding	Benign
X	152858858	G	A	G152858858A	NSDHL	NM_015922.3(NSDHL):c.356G>A:p.Arg119Lys	coding	Benign/Likely_benign
X	152858872	G	A	G152858872A	NSDHL	NM_015922.3(NSDHL):c.370G>A:p.Gly124Ser	coding	Pathogenic
X	152862632	G	T	G152862632T	NSDHL	NM_015922.3(NSDHL):c.451G>T:p.Glu151Ter	coding	Pathogenic
X	152865819	G	C	G152865819C	NSDHL	NM_015922.3(NSDHL):c.544G>C:p.Ala182Pro	coding	Pathogenic
X	152865888	G	A	G152865888A	NSDHL	NM_015922.3(NSDHL):c.613G>A:p.Gly205Ser	coding	Pathogenic
X	152865903	C	T	C152865903T	NSDHL	NM_015922.3(NSDHL):c.628C>T:p.Gln210Ter	coding	Pathogenic
X	152865953	C	T	C152865953T	NSDHL	NM_015922.3(NSDHL):c.678C>T:p.Phe226=	coding	Benign
X	152867634	G	A	G152867634A	NSDHL	NM_015922.3(NSDHL):c.750G>A:p.Ala250=	coding	Benign
X	152867641	C	T	C152867641T	NSDHL	NM_015922.3(NSDHL):c.757C>T:p.Gln253Ter	coding	Pathogenic
X	152868828	C	T	C152868828T	NSDHL	NM_015922.3(NSDHL):c.834C>T:p.Phe278=	coding	Benign
X	152868900	C	A	C152868900A	NSDHL	NM_015922.3(NSDHL):c.906C>A:p.Tyr302Ter	coding	Pathogenic
X	152868936	C	T	C152868936T	NSDHL	NM_015922.3(NSDHL):c.942C>T:p.Ile314=	coding	Benign
X	152868981	C	T	C152868981T	NSDHL	NM_015922.3(NSDHL):c.987C>T:p.Val329=	coding	Benign
X	152869040	A	G	A152869040G	NSDHL	NM_015922.3(NSDHL):c.1046A>G:p.Tyr349Cys	coding	Pathogenic
X	152869048	C	T	C152869048T	NSDHL	NM_015922.3(NSDHL):c.1054C>T:p.Leu352=	coding	Benign
X	152869103	G	A	G152869103A	NSDHL	NM_015922.3(NSDHL):c.1109G>A:p.Arg370Gln	coding	Benign
X	152869245	C	T	C152869245T	NSDHL	NM_015922.3(NSDHL):c.*129C>T	noncoding	Benign
X	152919040	G	A	G152919040A	ZNF185	NM_007150.3(ZNF185):c.489G>A:p.Glu163=	coding	Benign
X	152990347	T	A	T152990347A	PNMA5	NM_001184924.2(PNMA5):c.1252A>T:p.Thr418Ser	coding	Benign
X	152990660	C	A	C152990660A	PNMA5	NM_001184924.2(PNMA5):c.939G>T:p.Gly313=	coding	Benign
X	152990699	G	A	G152990699A	PNMA5	NM_001184924.2(PNMA5):c.900C>T:p.Pro300=	coding	Benign
X	152990912	G	A	G152990912A	PNMA5	NM_001184924.2(PNMA5):c.687C>T:p.Asp229=	coding	Benign
X	153445172	G	A	G153445172A	TREX2	NM_080701.3(TREX2):c.259C>T:p.Arg87Ter	coding	Benign
X	153445200	G	A	G153445200A	TREX2	NM_080701.3(TREX2):c.231C>T:p.Ile77=	coding	Benign
X	153447916	A	G	A153447916G	HAUS7	NM_017518.7(HAUS7):c.1076-7T>C	noncoding	Benign
X	153456353	G	C	G153456353C	HAUS7	NR_073156.2(HAUS7):n.1342C>G	coding	Benign
X	153456603	C	T	C153456603T	HAUS7	NR_073156.2(HAUS7):n.1220G>A	coding	Benign
X	153457217	G	A	G153457217A	HAUS7	NR_073156.2(HAUS7):n.1091C>T	coding	Benign
X	153504636	G	A	G153504636A	BGN	NM_001711.6(BGN):c.5G>A:p.Trp2Ter	coding	Pathogenic
X	153504742	C	T	C153504742T	BGN	NM_001711.6(BGN):c.111C>T:p.Asn37=	coding	Benign
X	153504751	A	G	A153504751G	BGN	NM_001711.6(BGN):c.120A>G:p.Glu40=	coding	Benign
X	153504869	G	A	G153504869A	BGN	NM_001711.6(BGN):c.238G>A:p.Gly80Ser	coding	Pathogenic
X	153505868	C	T	C153505868T	BGN	NM_001711.6(BGN):c.357C>T:p.Leu119=	coding	Benign
X	153505950	A	G	A153505950G	BGN	NM_001711.6(BGN):c.439A>G:p.Lys147Glu	coding	Pathogenic
X	153506536	C	T	C153506536T	BGN	NM_001711.6(BGN):c.573C>T:p.Gly191=	coding	Benign
X	153507052	G	T	G153507052T	BGN	NM_001711.6(BGN):c.776G>T:p.Gly259Val	coding	Pathogenic
X	153507184	A	C	A153507184C	BGN	NM_001711.6(BGN):c.908A>C:p.Gln303Pro	coding	Pathogenic
X	153536462	C	A	C153536462A	ATP2B3	NM_001001344.2(ATP2B3):c.208+7C>A	noncoding	Benign
X	153541366	G	A	G153541366A	ATP2B3	NM_001001344.2(ATP2B3):c.216G>A:p.Ala72=	coding	Benign
X	153541480	C	A	C153541480A	ATP2B3	NM_001001344.2(ATP2B3):c.330C>A:p.Thr110=	coding	Benign
X	153541537	G	C	G153541537C	ATP2B3	NM_001001344.2(ATP2B3):c.387G>C:p.Pro129=	coding	Benign
X	153541663	G	A	G153541663A	ATP2B3	NM_001001344.2(ATP2B3):c.407-6G>A	noncoding	Benign
X	153541850	G	A	G153541850A	ATP2B3	NM_001001344.2(ATP2B3):c.588G>A:p.Thr196=	coding	Benign
X	153542465	G	C	G153542465C	ATP2B3	NM_021949.3(ATP2B3):c.790+17G>C	noncoding	Benign
X	153543083	C	T	C153543083T	ATP2B3	NM_001001344.2(ATP2B3):c.831C>T:p.Thr277=	coding	Benign
X	153548740	G	A	G153548740A	ATP2B3	NM_001001344.2(ATP2B3):c.1224G>A:p.Pro408=	coding	Benign
X	153548809	G	A	G153548809A	ATP2B3	NM_001001344.2(ATP2B3):c.1293G>A:p.Glu431=	coding	Benign
X	153549631	A	G	A153549631G	ATP2B3	NM_021949.3(ATP2B3):c.1473A>G:p.Gly491=	coding	Benign
X	153550098	C	T	C153550098T	ATP2B3	NM_001001344.2(ATP2B3):c.1635C>T:p.Cys545=	coding	Benign
X	153550149	C	G	C153550149G	ATP2B3	NM_001001344.2(ATP2B3):c.1686C>G:p.Arg562=	coding	Benign
X	153550226	G	A	G153550226A	ATP2B3	NM_001001344.2(ATP2B3):c.1763G>A:p.Arg588His	coding	Benign
X	153556123	G	A	G153556123A	ATP2B3	NM_001001344.2(ATP2B3):c.2133G>A:p.Thr711=	coding	Benign
X	153556429	C	T	C153556429T	ATP2B3	NM_021949.3(ATP2B3):c.2326+11C>T	noncoding	Benign
X	153558270	G	C	G153558270C	ATP2B3	NM_021949.3(ATP2B3):c.2592G>C:p.Val864=	coding	Benign
X	153559956	G	T	G153559956T	ATP2B3	NM_021949.3(ATP2B3):c.2839+14G>T	noncoding	Benign
X	153562130	C	T	C153562130T	ATP2B3	NM_021949.3(ATP2B3):c.3052-5C>T	noncoding	Benign
X	153564923	C	A	C153564923A	ATP2B3	NM_001001344.2(ATP2B3):c.3162C>A:p.Val1054=	coding	Benign
X	153580106	G	A	G153580106A	ATP2B3	NM_001001344.2(ATP2B3):c.3471G>A:p.Pro1157=	coding	Benign
X	153580153	C	T	C153580153T	ATP2B3	NM_001001344.2(ATP2B3):c.3518C>T:p.Ala1173Val	coding	Benign
X	153580229	G	T	G153580229T	ATP2B3	NM_001001344.2(ATP2B3):c.3594G>T:p.Lys1198Asn	coding	Pathogenic
X	153588455	C	T	C153588455T	CCNQ	NM_152274.5(CCNQ):c.658-1G>A	coding	Pathogenic
X	153588463	A	G	A153588463G	CCNQ	NM_152274.5(CCNQ):c.658-9T>C	noncoding	Benign
X	153592505	C	T	C153592505T	CCNQ	NM_152274.5(CCNQ):c.657+1G>A	noncoding	Pathogenic
X	153592508	G	A	G153592508A	CCNQ	NM_152274.5(CCNQ):c.655C>T:p.Gln219Ter	coding	Pathogenic
X	153592515	C	T	C153592515T	CCNQ	NM_152274.5(CCNQ):c.648G>A:p.Pro216=	coding	Benign
X	153592536	G	A	G153592536A	CCNQ	NM_152274.5(CCNQ):c.627C>T:p.Ala209=	coding	Benign
X	153592590	G	A	G153592590A	CCNQ	NM_152274.5(CCNQ):c.573C>T:p.Ile191=	coding	Benign
X	153594539	G	A	G153594539A	CCNQ	NM_152274.5(CCNQ):c.429+8C>T	noncoding	Benign
X	153596119	C	T	C153596119T	CCNQ	NM_152274.5(CCNQ):c.181G>A:p.Glu61Lys	coding	Benign
X	153649310	C	T	C153649310T	DUSP9	NM_001318503.2(DUSP9):c.452C>T:p.Ala151Val	coding	Benign
X	153649332	C	T	C153649332T	DUSP9	NM_001318503.2(DUSP9):c.474C>T:p.Pro158=	coding	Benign
X	153649380	G	A	G153649380A	DUSP9	NM_001318503.2(DUSP9):c.522G>A:p.Ala174=	coding	Benign
X	153670532	G	A	G153670532A	PNCK	NM_001366977.1(PNCK):c.957C>T:p.Gly319=	coding	Benign
X	153688570	A	G	A153688570G	SLC6A8	NM_005629.4(SLC6A8):c.-5A>G	noncoding	Benign
X	153688661	G	A	G153688661A	SLC6A8	NM_005629.4(SLC6A8):c.87G>A:p.Gly29=	coding	Benign/Likely_benign
X	153688833	G	A	G153688833A	SLC6A8	NM_005629.4(SLC6A8):c.259G>A:p.Gly87Arg	coding	Pathogenic
X	153690373	A	G	A153690373G	SLC6A8	NM_005629.4(SLC6A8):c.263-2A>G	noncoding	Pathogenic
X	153690374	G	A	G153690374A	SLC6A8	NM_005629.4(SLC6A8):c.263-1G>A	noncoding	Pathogenic
X	153690394	C	T	C153690394T	SLC6A8	NM_005629.4(SLC6A8):c.282C>T:p.Tyr94=	coding	Benign/Likely_benign
X	153691304	G	T	G153691304T	SLC6A8	NM_005629.4(SLC6A8):c.395G>T:p.Gly132Val	coding	Pathogenic
X	153691404	C	T	C153691404T	SLC6A8	NM_005629.4(SLC6A8):c.495C>T:p.Thr165=	coding	Benign
X	153691407	G	A	G153691407A	SLC6A8	NM_005629.4(SLC6A8):c.498G>A:p.Thr166=	coding	Benign/Likely_benign
X	153691442	C	G	C153691442G	SLC6A8	NM_005629.4(SLC6A8):c.533C>G:p.Thr178Ser	coding	Benign
X	153691446	C	T	C153691446T	SLC6A8	NM_005629.4(SLC6A8):c.537C>T:p.Pro179=	coding	Benign
X	153691466	G	A	G153691466A	SLC6A8	NM_005629.4(SLC6A8):c.557G>A:p.Arg186His	coding	Benign/Likely_benign
X	153691512	C	T	C153691512T	SLC6A8	NM_005629.4(SLC6A8):c.603C>T:p.Asp201=	coding	Benign/Likely_benign
X	153691542	C	T	C153691542T	SLC6A8	NM_005629.4(SLC6A8):c.633C>T:p.Ile211=	coding	Benign
X	153691969	C	T	C153691969T	SLC6A8	NM_005629.4(SLC6A8):c.645-6C>T	noncoding	Benign/Likely_benign
X	153692029	G	A	G153692029A	SLC6A8	NM_005629.4(SLC6A8):c.699G>A:p.Trp233Ter	coding	Pathogenic
X	153692111	C	T	C153692111T	SLC6A8	NM_005629.4(SLC6A8):c.777+4C>T	noncoding	Benign/Likely_benign
X	153693033	C	G	C153693033G	SLC6A8	NM_005629.4(SLC6A8):c.778-8C>G	noncoding	Benign/Likely_benign
X	153693043	C	T	C153693043T	SLC6A8	NM_005629.4(SLC6A8):c.780C>T:p.Ile260=	coding	Benign/Likely_benign
X	153693070	C	T	C153693070T	SLC6A8	NM_005629.4(SLC6A8):c.807C>T:p.Tyr269=	coding	Benign/Likely_benign
X	153693076	C	T	C153693076T	SLC6A8	NM_005629.4(SLC6A8):c.813C>T:p.Val271=	coding	Benign/Likely_benign
X	153693082	C	T	C153693082T	SLC6A8	NM_005629.4(SLC6A8):c.819C>T:p.Val273=	coding	Benign/Likely_benign
X	153693083	G	A	G153693083A	SLC6A8	NM_005629.4(SLC6A8):c.820G>A:p.Val274Met	coding	Benign
X	153693184	G	A	G153693184A	SLC6A8	NM_005629.4(SLC6A8):c.912+9G>A	noncoding	Benign/Likely_benign
X	153693324	C	G	C153693324G	SLC6A8	NM_005629.4(SLC6A8):c.974C>G:p.Thr325Arg	coding	Pathogenic
X	153693325	A	C	A153693325C	SLC6A8	NM_005629.4(SLC6A8):c.975A>C:p.Thr325=	coding	Benign/Likely_benign
X	153693361	C	G	C153693361G	SLC6A8	NM_005629.4(SLC6A8):c.1011C>G:p.Cys337Trp	coding	Pathogenic
X	153693368	T	C	T153693368C	SLC6A8	NM_005629.4(SLC6A8):c.1016+2T>C	noncoding	Pathogenic
X	153693375	C	T	C153693375T	SLC6A8	NM_005629.4(SLC6A8):c.1016+9C>T	noncoding	Benign/Likely_benign
X	153693376	G	A	G153693376A	SLC6A8	NM_005629.4(SLC6A8):c.1016+10G>A	noncoding	Benign/Likely_benign
X	153693465	C	T	C153693465T	SLC6A8	NM_005629.4(SLC6A8):c.1020C>T:p.Asp340=	coding	Benign/Likely_benign
X	153693558	C	T	C153693558T	SLC6A8	NM_005629.4(SLC6A8):c.1113C>T:p.Gly371=	coding	Benign
X	153693586	G	C	G153693586C	SLC6A8	NM_005629.4(SLC6A8):c.1141G>C:p.Gly381Arg	coding	Pathogenic
X	153693592	G	A	G153693592A	SLC6A8	NM_005629.4(SLC6A8):c.1141+6G>A	noncoding	Benign/Likely_benign
X	153693604	G	A	G153693604A	SLC6A8	NM_005629.4(SLC6A8):c.1141+18G>A	noncoding	Benign/Likely_benign
X	153693903	A	C	A153693903C	SLC6A8	NM_005629.4(SLC6A8):c.1142-2A>C	noncoding	Pathogenic
X	153693918	C	T	C153693918T	SLC6A8	NM_005629.4(SLC6A8):c.1155C>T:p.Ala385=	coding	Benign
X	153693984	C	T	C153693984T	SLC6A8	NM_005629.4(SLC6A8):c.1221C>T:p.Phe407=	coding	Benign
X	153694018	G	A	G153694018A	SLC6A8	NM_005629.4(SLC6A8):c.1254+1G>A	coding	Pathogenic
X	153694023	C	T	C153694023T	SLC6A8	NM_005629.4(SLC6A8):c.1254+6C>T	noncoding	Benign
X	153694099	C	T	C153694099T	SLC6A8	NM_005629.4(SLC6A8):c.1255-31C>T	noncoding	Benign
X	153694128	A	G	A153694128G	SLC6A8	NM_005629.4(SLC6A8):c.1255-2A>G	noncoding	Pathogenic
X	153694346	C	T	C153694346T	SLC6A8	NM_005629.4(SLC6A8):c.1395C>T:p.Gly465=	coding	Benign
X	153694347	G	A	G153694347A	SLC6A8	NM_005629.4(SLC6A8):c.1396G>A:p.Gly466Arg	coding	Pathogenic
X	153694362	C	T	C153694362T	SLC6A8	NM_005629.4(SLC6A8):c.1411C>T:p.Gln471Ter	coding	Pathogenic
X	153694379	C	A	C153694379A	SLC6A8	NM_005629.4(SLC6A8):c.1428C>A:p.Tyr476Ter	coding	Pathogenic
X	153694388	C	T	C153694388T	SLC6A8	NM_005629.4(SLC6A8):c.1437C>T:p.Ser479=	coding	Benign/Likely_benign
X	153694406	G	A	G153694406A	SLC6A8	NM_005629.4(SLC6A8):c.1455G>A:p.Trp485Ter	coding	Pathogenic
X	153694424	C	G	C153694424G	SLC6A8	NM_005629.4(SLC6A8):c.1473C>G:p.Cys491Trp	coding	Pathogenic
X	153694424	C	T	C153694424T	SLC6A8	NM_005629.4(SLC6A8):c.1473C>T:p.Cys491=	coding	Benign/Likely_benign
X	153694445	C	G	C153694445G	SLC6A8	NM_005629.4(SLC6A8):c.1494C>G:p.Tyr498Ter	coding	Pathogenic
X	153694445	C	T	C153694445T	SLC6A8	NM_005629.4(SLC6A8):c.1494C>T:p.Tyr498=	coding	Benign/Likely_benign
X	153694515	C	T	C153694515T	SLC6A8	NM_005629.4(SLC6A8):c.1496-18C>T	noncoding	Benign
X	153694525	C	T	C153694525T	SLC6A8	NM_005629.4(SLC6A8):c.1496-8C>T	noncoding	Benign
X	153694526	G	A	G153694526A	SLC6A8	NM_005629.4(SLC6A8):c.1496-7G>A	noncoding	Benign
X	153694528	C	T	C153694528T	SLC6A8	NM_005629.4(SLC6A8):c.1496-5C>T	noncoding	Benign
X	153694529	G	A	G153694529A	SLC6A8	NM_005629.4(SLC6A8):c.1496-4G>A	noncoding	Benign/Likely_benign
X	153694553	G	A	G153694553A	SLC6A8	NM_005629.4(SLC6A8):c.1516G>A:p.Asp506Asn	coding	Benign
X	153694577	C	T	C153694577T	SLC6A8	NM_005629.4(SLC6A8):c.1540C>T:p.Arg514Ter	coding	Pathogenic
X	153694621	G	A	G153694621A	SLC6A8	NM_005629.4(SLC6A8):c.1584G>A:p.Pro528=	coding	Benign
X	153694714	C	T	C153694714T	SLC6A8	NM_005629.4(SLC6A8):c.1597-5C>T	noncoding	Benign
X	153694748	C	A	C153694748A	SLC6A8	NM_005629.4(SLC6A8):c.1626C>A:p.Tyr542Ter	coding	Pathogenic
X	153694748	C	T	C153694748T	SLC6A8	NM_005629.4(SLC6A8):c.1626C>T:p.Tyr542=	coding	Benign
X	153694753	C	T	C153694753T	SLC6A8	NM_005629.4(SLC6A8):c.1631C>T:p.Pro544Leu	coding	Pathogenic
X	153694771	C	G	C153694771G	SLC6A8	NM_005629.4(SLC6A8):c.1649C>G:p.Thr550Ser	coding	Benign/Likely_benign
X	153694781	C	G	C153694781G	SLC6A8	NM_005629.4(SLC6A8):c.1659C>G:p.Tyr553Ter	coding	Pathogenic
X	153694783	C	T	C153694783T	SLC6A8	NM_005629.4(SLC6A8):c.1661C>T:p.Pro554Leu	coding	Pathogenic
X	153694784	G	A	G153694784A	SLC6A8	NM_005629.4(SLC6A8):c.1662G>A:p.Pro554=	coding	Benign/Likely_benign
X	153694790	G	A	G153694790A	SLC6A8	NM_005629.4(SLC6A8):c.1668G>A:p.Trp556Ter	coding	Pathogenic
X	153694800	A	G	A153694800G	SLC6A8	NM_005629.4(SLC6A8):c.1678A>G:p.Met560Val	coding	Benign
X	153694814	C	G	C153694814G	SLC6A8	NM_005629.4(SLC6A8):c.1692C>G:p.Phe564Leu	coding	Benign/Likely_benign
X	153694814	C	T	C153694814T	SLC6A8	NM_005629.4(SLC6A8):c.1692C>T:p.Phe564=	coding	Benign/Likely_benign
X	153694825	C	A	C153694825A	SLC6A8	NM_005629.4(SLC6A8):c.1703C>A:p.Ser568Tyr	coding	Pathogenic
X	153694835	C	T	C153694835T	SLC6A8	NM_005629.4(SLC6A8):c.1713C>T:p.Cys571=	coding	Benign/Likely_benign
X	153695071	C	T	C153695071T	SLC6A8	NM_005629.4(SLC6A8):c.1768-3C>T	noncoding	Benign
X	153695084	A	G	A153695084G	SLC6A8	NM_005629.4(SLC6A8):c.1778A>G:p.His593Arg	coding	Benign/Likely_benign
X	153695190	C	T	C153695190T	SLC6A8	NM_005629.4(SLC6A8):c.1884C>T:p.Val628=	coding	Benign/Likely_benign
X	153695196	G	C	G153695196C	SLC6A8	NM_005629.4(SLC6A8):c.1890G>C:p.Val630=	coding	Benign/Likely_benign
X	153704021	G	A	G153704021A	BCAP31	NM_001256447.2(BCAP31):c.415C>T:p.Gln139Ter	coding	Pathogenic
X	153715540	A	C	A153715540C	BCAP31	NM_001256447.2(BCAP31):c.341+2T>G	noncoding	Pathogenic
X	153715691	T	C	T153715691C	BCAP31	NM_001256447.2(BCAP31):c.194-2A>G	noncoding	Pathogenic
X	153720873	G	A	G153720873A	BCAP31	NM_001256447.2(BCAP31):c.192C>T:p.Ile64=	coding	Benign
X	153720968	G	A	G153720968A	BCAP31	NM_001256447.2(BCAP31):c.97C>T:p.Gln33Ter	coding	Pathogenic
X	153723154	T	A	T153723154A	BCAP31	NM_001256447.2(BCAP31):c.91A>T:p.Arg31Ter	coding	Pathogenic
X	153723558	G	T	G153723558T	BCAP31	NM_001256447.2(BCAP31):c.-44-270C>A	coding	Pathogenic
X	153725065	C	G	C153725065G	ABCD1	NM_000033.4(ABCD1):c.-202C>G	noncoding	Benign
X	153725208	C	T	C153725208T	ABCD1	NM_000033.4(ABCD1):c.-59C>T	noncoding	Benign
X	153725267	A	G	A153725267G	ABCD1	NM_000033.4(ABCD1):c.1A>G:p.Met1Val	coding	Pathogenic
X	153725296	G	A	G153725296A	ABCD1	NM_000033.4(ABCD1):c.30G>A:p.Trp10Ter	coding	Pathogenic
X	153725304	A	C	A153725304C	ABCD1	NM_000033.4(ABCD1):c.38A>C:p.Asn13Thr	coding	Benign/Likely_benign
X	153725374	G	A	G153725374A	ABCD1	NM_000033.4(ABCD1):c.108G>A:p.Val36=	coding	Benign
X	153725447	G	A	G153725447A	ABCD1	NM_000033.4(ABCD1):c.181G>A:p.Ala61Thr	coding	Benign/Likely_benign
X	153725559	C	T	C153725559T	ABCD1	NM_000033.4(ABCD1):c.293C>T:p.Ser98Leu	coding	Pathogenic
X	153725577	G	A	G153725577A	ABCD1	NM_000033.4(ABCD1):c.311G>A:p.Arg104His	coding	Pathogenic
X	153725607	T	C	T153725607C	ABCD1	NM_000033.4(ABCD1):c.341T>C:p.Leu114Pro	coding	Pathogenic
X	153725612	G	A	G153725612A	ABCD1	NM_000033.4(ABCD1):c.346G>A:p.Gly116Arg	coding	Pathogenic
X	153725612	G	C	G153725612C	ABCD1	NM_000033.4(ABCD1):c.346G>C:p.Gly116Arg	coding	Pathogenic
X	153725672	C	T	C153725672T	ABCD1	NM_000033.4(ABCD1):c.406C>T:p.Gln136Ter	coding	Pathogenic
X	153725677	G	A	G153725677A	ABCD1	NM_000033.4(ABCD1):c.411G>A:p.Trp137Ter	coding	Pathogenic
X	153725687	G	A	G153725687A	ABCD1	NM_000033.4(ABCD1):c.421G>A:p.Ala141Thr	coding	Pathogenic
X	153725702	T	A	T153725702A	ABCD1	NM_000033.4(ABCD1):c.436T>A:p.Phe146Ile	coding	Benign
X	153725708	A	G	A153725708G	ABCD1	NM_000033.4(ABCD1):c.442A>G:p.Asn148Asp	coding	Pathogenic
X	153725720	C	T	C153725720T	ABCD1	NM_000033.4(ABCD1):c.454C>T:p.Arg152Cys	coding	Pathogenic
X	153725737	A	G	A153725737G	ABCD1	NM_000033.4(ABCD1):c.471A>G:p.Gln157=	coding	Benign
X	153725742	C	G	C153725742G	ABCD1	NM_000033.4(ABCD1):c.476C>G:p.Ala159Gly	coding	Benign
X	153725745	T	C	T153725745C	ABCD1	NM_000033.4(ABCD1):c.479T>C:p.Leu160Pro	coding	Pathogenic
X	153725770	C	G	C153725770G	ABCD1	NM_000033.4(ABCD1):c.504C>G:p.Ala168=	coding	Benign
X	153725786	T	G	T153725786G	ABCD1	NM_000033.4(ABCD1):c.520T>G:p.Tyr174Asp	coding	Pathogenic
X	153725787	A	C	A153725787C	ABCD1	NM_000033.4(ABCD1):c.521A>C:p.Tyr174Ser	coding	Pathogenic/Likely_pathogenic
X	153725787	A	G	A153725787G	ABCD1	NM_000033.4(ABCD1):c.521A>G:p.Tyr174Cys	coding	Pathogenic
X	153725795	C	T	C153725795T	ABCD1	NM_000033.4(ABCD1):c.529C>T:p.Gln177Ter	coding	Pathogenic
X	153725831	C	T	C153725831T	ABCD1	NM_000033.4(ABCD1):c.565C>T:p.Arg189Trp	coding	Pathogenic/Likely_pathogenic
X	153725859	C	T	C153725859T	ABCD1	NM_000033.4(ABCD1):c.593C>T:p.Thr198Met	coding	Pathogenic/Likely_pathogenic
X	153725867	G	A	G153725867A	ABCD1	NM_000033.4(ABCD1):c.601G>A:p.Val201Met	coding	Benign
X	153725881	G	A	G153725881A	ABCD1	NM_000033.4(ABCD1):c.615G>A:p.Ala205=	coding	Benign
X	153725957	C	T	C153725957T	ABCD1	NM_000033.4(ABCD1):c.691C>T:p.Arg231Trp	coding	Benign
X	153725962	G	T	G153725962T	ABCD1	NM_000033.4(ABCD1):c.696G>T:p.Ala232=	coding	Benign/Likely_benign
X	153726027	C	T	C153726027T	ABCD1	NM_000033.4(ABCD1):c.761C>T:p.Thr254Met	coding	Pathogenic/Likely_pathogenic
X	153726034	C	T	C153726034T	ABCD1	NM_000033.4(ABCD1):c.768C>T:p.Asn256=	coding	Benign
X	153726062	G	A	G153726062A	ABCD1	NM_000033.4(ABCD1):c.796G>A:p.Gly266Arg	coding	Pathogenic
X	153726063	G	A	G153726063A	ABCD1	NM_000033.4(ABCD1):c.797G>A:p.Gly266Glu	coding	Pathogenic
X	153726104	C	T	C153726104T	ABCD1	NM_000033.4(ABCD1):c.838C>T:p.Arg280Cys	coding	Pathogenic/Likely_pathogenic
X	153726109	C	A	C153726109A	ABCD1	NM_000033.4(ABCD1):c.843C>A:p.Tyr281Ter	coding	Pathogenic
X	153726113	C	G	C153726113G	ABCD1	NM_000033.4(ABCD1):c.847C>G:p.His283Asp	coding	Pathogenic
X	153726136	G	A	G153726136A	ABCD1	NM_000033.4(ABCD1):c.870G>A:p.Ser290=	coding	Benign
X	153726137	G	A	G153726137A	ABCD1	NM_000033.4(ABCD1):c.871G>A:p.Glu291Lys	coding	Pathogenic
X	153726153	A	G	A153726153G	ABCD1	NM_000033.4(ABCD1):c.887A>G:p.Tyr296Cys	coding	Pathogenic
X	153726161	C	T	C153726161T	ABCD1	NM_000033.4(ABCD1):c.895C>T:p.His299Tyr	coding	Benign
X	153729216	C	T	C153729216T	ABCD1	NM_000033.4(ABCD1):c.901-16C>T	noncoding	Benign
X	153729222	C	T	C153729222T	ABCD1	NM_000033.4(ABCD1):c.901-10C>T	noncoding	Benign
X	153729227	C	T	C153729227T	ABCD1	NM_000033.4(ABCD1):c.901-5C>T	noncoding	Benign
X	153729250	C	T	C153729250T	ABCD1	NM_000033.4(ABCD1):c.919C>T:p.Gln307Ter	coding	Pathogenic
X	153729276	G	A	G153729276A	ABCD1	NM_000033.4(ABCD1):c.945G>A:p.Ser315=	coding	Benign/Likely_benign
X	153729325	C	T	C153729325T	ABCD1	NM_000033.4(ABCD1):c.994C>T:p.Gln332Ter	coding	Pathogenic
X	153729378	C	A	C153729378A	ABCD1	NM_000033.4(ABCD1):c.1047C>A:p.Val349=	coding	Benign/Likely_benign
X	153729413	G	A	G153729413A	ABCD1	NM_000033.4(ABCD1):c.1081+1G>A	coding	Pathogenic
X	153736126	A	T	A153736126T	ABCD1	NM_000033.4(ABCD1):c.1096A>T:p.Lys366Ter	coding	Pathogenic
X	153736147	A	G	A153736147G	ABCD1	NM_000033.4(ABCD1):c.1117A>G:p.Lys373Glu	coding	Benign
X	153736156	G	T	G153736156T	ABCD1	NM_000033.4(ABCD1):c.1126G>T:p.Glu376Ter	coding	Pathogenic
X	153736196	G	A	G153736196A	ABCD1	NM_000033.4(ABCD1):c.1166G>A:p.Arg389His	coding	Pathogenic/Likely_pathogenic
X	153736231	C	T	C153736231T	ABCD1	NM_000033.4(ABCD1):c.1201C>T:p.Arg401Trp	coding	Pathogenic
X	153736232	G	A	G153736232A	ABCD1	NM_000033.4(ABCD1):c.1202G>A:p.Arg401Gln	coding	Pathogenic
X	153736249	A	T	A153736249T	ABCD1	NM_000033.4(ABCD1):c.1219A>T:p.Lys407Ter	coding	Pathogenic
X	153736365	C	T	C153736365T	ABCD1	NM_000033.4(ABCD1):c.1245C>T:p.Tyr415=	coding	Benign
X	153736372	C	T	C153736372T	ABCD1	NM_000033.4(ABCD1):c.1252C>T:p.Arg418Trp	coding	Pathogenic/Likely_pathogenic
X	153736390	C	T	C153736390T	ABCD1	NM_000033.4(ABCD1):c.1270C>T:p.Gln424Ter	coding	Pathogenic
X	153736408	C	T	C153736408T	ABCD1	NM_000033.4(ABCD1):c.1288C>T:p.Gln430Ter	coding	Pathogenic
X	153736474	C	T	C153736474T	ABCD1	NM_000033.4(ABCD1):c.1354C>T:p.Arg452Trp	coding	Benign
X	153736544	C	T	C153736544T	ABCD1	NM_000033.4(ABCD1):c.1393+31C>T	noncoding	Benign
X	153737159	C	T	C153737159T	ABCD1	NM_000033.4(ABCD1):c.1396C>T:p.Gln466Ter	coding	Pathogenic
X	153737177	C	T	C153737177T	ABCD1	NM_000033.4(ABCD1):c.1414C>T:p.Gln472Ter	coding	Pathogenic
X	153737192	G	T	G153737192T	ABCD1	NM_000033.4(ABCD1):c.1429G>T:p.Glu477Ter	coding	Pathogenic
X	153737214	C	G	C153737214G	ABCD1	NM_000033.4(ABCD1):c.1451C>G:p.Pro484Arg	coding	Pathogenic
X	153737217	C	G	C153737217G	ABCD1	NM_000033.4(ABCD1):c.1454C>G:p.Ser485Ter	coding	Pathogenic
X	153737218	A	C	A153737218C	ABCD1	NM_000033.4(ABCD1):c.1455A>C:p.Ser485=	coding	Benign/Likely_benign
X	153737252	G	A	G153737252A	ABCD1	NM_000033.4(ABCD1):c.1488+1G>A	coding	Pathogenic
X	153740068	C	G	C153740068G	ABCD1	NM_000033.4(ABCD1):c.1489-24C>G	noncoding	Benign
X	153740135	G	A	G153740135A	ABCD1	NM_000033.4(ABCD1):c.1532G>A:p.Cys511Tyr	coding	Pathogenic
X	153740137	G	A	G153740137A	ABCD1	NM_000033.4(ABCD1):c.1534G>A:p.Gly512Ser	coding	Pathogenic
X	153740147	C	T	C153740147T	ABCD1	NM_000033.4(ABCD1):c.1544C>T:p.Ser515Phe	coding	Pathogenic
X	153740151	G	A	G153740151A	ABCD1	NM_000033.4(ABCD1):c.1548G>A:p.Leu516=	coding	Benign
X	153740155	C	G	C153740155G	ABCD1	NM_000033.4(ABCD1):c.1552C>G:p.Arg518Gly	coding	Pathogenic
X	153740155	C	T	C153740155T	ABCD1	NM_000033.4(ABCD1):c.1552C>T:p.Arg518Trp	coding	Pathogenic
X	153740156	G	A	G153740156A	ABCD1	NM_000033.4(ABCD1):c.1553G>A:p.Arg518Gln	coding	Pathogenic
X	153740170	C	T	C153740170T	ABCD1	NM_000033.4(ABCD1):c.1567C>T:p.Leu523Phe	coding	Pathogenic
X	153740184	C	T	C153740184T	ABCD1	NM_000033.4(ABCD1):c.1581C>T:p.Tyr527=	coding	Benign
X	153740231	C	T	C153740231T	ABCD1	NM_000033.4(ABCD1):c.1628C>T:p.Pro543Leu	coding	Pathogenic
X	153740238	G	A	G153740238A	ABCD1	NM_000033.4(ABCD1):c.1634+1G>A	coding	Pathogenic
X	153740572	A	G	A153740572G	ABCD1	NM_000033.4(ABCD1):c.1635-2A>G	noncoding	Pathogenic
X	153740573	G	A	G153740573A	ABCD1	NM_000033.4(ABCD1):c.1635-1G>A	noncoding	Pathogenic
X	153740600	G	A	G153740600A	ABCD1	NM_000033.4(ABCD1):c.1661G>A:p.Arg554His	coding	Pathogenic
X	153740618	C	T	C153740618T	ABCD1	NM_000033.4(ABCD1):c.1679C>T:p.Pro560Leu	coding	Pathogenic
X	153740638	C	T	C153740638T	ABCD1	NM_000033.4(ABCD1):c.1699C>T:p.Gln567Ter	coding	Pathogenic
X	153740683	G	A	G153740683A	ABCD1	NM_000033.4(ABCD1):c.1744G>A:p.Val582Ile	coding	Benign
X	153740687	T	A	T153740687A	ABCD1	NM_000033.4(ABCD1):c.1748T>A:p.Val583Glu	coding	Benign/Likely_benign
X	153740707	C	T	C153740707T	ABCD1	NM_000033.4(ABCD1):c.1768C>T:p.Gln590Ter	coding	Pathogenic
X	153740710	C	T	C153740710T	ABCD1	NM_000033.4(ABCD1):c.1771C>T:p.Arg591Trp	coding	Pathogenic/Likely_pathogenic
X	153740711	G	A	G153740711A	ABCD1	NM_000033.4(ABCD1):c.1772G>A:p.Arg591Gln	coding	Pathogenic
X	153740721	T	G	T153740721G	ABCD1	NM_000033.4(ABCD1):c.1780+2T>G	noncoding	Pathogenic
X	153742986	G	A	G153742986A	ABCD1	NM_000033.4(ABCD1):c.1781-1G>A	noncoding	Pathogenic
X	153742990	G	A	G153742990A	ABCD1	NM_000033.4(ABCD1):c.1784G>A:p.Trp595Ter	coding	Pathogenic
X	153743008	G	A	G153743008A	ABCD1	NM_000033.4(ABCD1):c.1802G>A:p.Trp601Ter	coding	Pathogenic
X	153743016	G	A	G153743016A	ABCD1	NM_000033.4(ABCD1):c.1810G>A:p.Val604Ile	coding	Benign
X	153743023	C	T	C153743023T	ABCD1	NM_000033.4(ABCD1):c.1817C>T:p.Ser606Leu	coding	Pathogenic
X	153743029	G	A	G153743029A	ABCD1	NM_000033.4(ABCD1):c.1823G>A:p.Gly608Asp	coding	Benign
X	153743031	G	A	G153743031A	ABCD1	NM_000033.4(ABCD1):c.1825G>A:p.Glu609Lys	coding	Pathogenic
X	153743055	C	T	C153743055T	ABCD1	NM_000033.4(ABCD1):c.1849C>T:p.Arg617Cys	coding	Pathogenic/Likely_pathogenic
X	153743056	G	A	G153743056A	ABCD1	NM_000033.4(ABCD1):c.1850G>A:p.Arg617His	coding	Pathogenic
X	153743072	G	A	G153743072A	ABCD1	NM_000033.4(ABCD1):c.1865+1G>A	coding	Pathogenic
X	153743211	G	A	G153743211A	ABCD1	NM_000033.4(ABCD1):c.1866-10G>A	noncoding	Pathogenic/Likely_pathogenic
X	153743231	G	A	G153743231A	ABCD1	NM_000033.4(ABCD1):c.1876G>A:p.Ala626Thr	coding	Pathogenic/Likely_pathogenic
X	153743247	G	A	G153743247A	ABCD1	NM_000033.4(ABCD1):c.1892G>A:p.Cys631Tyr	coding	Pathogenic
X	153743250	C	T	C153743250T	ABCD1	NM_000033.4(ABCD1):c.1895C>T:p.Thr632Ile	coding	Pathogenic
X	153743254	C	G	C153743254G	ABCD1	NM_000033.4(ABCD1):c.1899C>G:p.Ser633Arg	coding	Pathogenic
X	153743262	G	T	G153743262T	ABCD1	NM_000033.4(ABCD1):c.1907G>T:p.Ser636Ile	coding	Pathogenic
X	153743316	T	C	T153743316C	ABCD1	NM_000033.4(ABCD1):c.1961T>C:p.Leu654Pro	coding	Pathogenic
X	153743333	C	T	C153743333T	ABCD1	NM_000033.4(ABCD1):c.1978C>T:p.Arg660Trp	coding	Pathogenic
X	153743457	C	T	C153743457T	ABCD1	NM_000033.4(ABCD1):c.1992-32C>T	noncoding	Benign
X	153743487	A	G	A153743487G	ABCD1	NM_000033.4(ABCD1):c.1992-2A>G	noncoding	Pathogenic
X	153743495	C	A	C153743495A	ABCD1	NM_000033.4(ABCD1):c.1998C>A:p.Tyr666Ter	coding	Pathogenic
X	153743495	C	G	C153743495G	ABCD1	NM_000033.4(ABCD1):c.1998C>G:p.Tyr666Ter	coding	Pathogenic
X	153743503	A	G	A153743503G	ABCD1	NM_000033.4(ABCD1):c.2006A>G:p.His669Arg	coding	Pathogenic
X	153743516	C	T	C153743516T	ABCD1	NM_000033.4(ABCD1):c.2019C>T:p.Phe673=	coding	Benign
X	153743540	C	T	C153743540T	ABCD1	NM_000033.4(ABCD1):c.2043C>T:p.Phe681=	coding	Benign/Likely_benign
X	153743609	G	A	G153743609A	ABCD1	NM_000033.4(ABCD1):c.2112G>A:p.Ala704=	coding	Benign
X	153743698	C	T	C153743698T	ABCD1	NM_000033.4(ABCD1):c.2201C>T:p.Pro734Leu	coding	Benign
X	153743743	G	C	G153743743C	ABCD1	NM_000033.4(ABCD1):c.*8G>C	noncoding	Benign
X	153744208	C	T	C153744208T	ABCD1	NM_000033.4(ABCD1):c.*473C>T	noncoding	Benign
X	153744343	G	A	G153744343A	ABCD1	NM_000033.4(ABCD1):c.*608G>A	noncoding	Benign
X	153744612	C	T	C153744612T	ABCD1	NM_000033.4(ABCD1):c.*877C>T	noncoding	Benign
X	153744629	G	A	G153744629A	ABCD1	NM_000033.4(ABCD1):c.*894G>A	noncoding	Benign
X	153744720	C	G	C153744720G	ABCD1	NM_000033.4(ABCD1):c.*985C>G	noncoding	Benign
X	153744770	C	T	C153744770T	ABCD1	NM_000033.3(ABCD1):c.*1035C>T	noncoding	Benign
X	153766910	G	A	G153766910A	PLXNB3	NM_005393.3(PLXNB3):c.83G>A:p.Cys28Tyr	coding	Benign
X	153767244	G	A	G153767244A	PLXNB3	NM_005393.3(PLXNB3):c.417G>A:p.Val139=	coding	Benign
X	153767307	C	T	C153767307T	PLXNB3	NM_005393.3(PLXNB3):c.480C>T:p.Asp160=	coding	Benign
X	153767547	C	T	C153767547T	PLXNB3	NM_005393.3(PLXNB3):c.720C>T:p.Asp240=	coding	Benign
X	153769233	G	A	G153769233A	PLXNB3	NM_005393.3(PLXNB3):c.1467G>A:p.Pro489=	coding	Benign
X	153769829	G	A	G153769829A	PLXNB3	NM_005393.3(PLXNB3):c.1519G>A:p.Gly507Arg	coding	Benign
X	153769909	G	A	G153769909A	PLXNB3	NM_005393.3(PLXNB3):c.1599G>A:p.Pro533=	coding	Benign
X	153770438	G	A	G153770438A	PLXNB3	NM_005393.3(PLXNB3):c.1887G>A:p.Ala629=	coding	Benign
X	153770623	C	T	C153770623T	PLXNB3	NM_005393.3(PLXNB3):c.1991C>T:p.Thr664Ile	coding	Benign
X	153771393	T	C	T153771393C	PLXNB3	NM_005393.3(PLXNB3):c.2337T>C:p.His779=	coding	Benign
X	153771516	C	T	C153771516T	PLXNB3	NM_005393.3(PLXNB3):c.2378C>T:p.Pro793Leu	coding	Benign
X	153773248	G	A	G153773248A	PLXNB3	NM_005393.3(PLXNB3):c.2925G>A:p.Pro975=	coding	Benign
X	153773721	C	T	C153773721T	PLXNB3	NM_005393.3(PLXNB3):c.3279+8C>T	noncoding	Benign
X	153773890	G	A	G153773890A	PLXNB3	NM_005393.3(PLXNB3):c.3311G>A:p.Ser1104Asn	coding	Benign
X	153774772	C	A	C153774772A	PLXNB3	NM_005393.3(PLXNB3):c.3897C>A:p.Thr1299=	coding	Benign
X	153775061	G	A	G153775061A	PLXNB3	NM_005393.3(PLXNB3):c.4113G>A:p.Thr1371=	coding	Benign
X	153775253	G	A	G153775253A	PLXNB3	NM_005393.3(PLXNB3):c.4184G>A:p.Ser1395Asn	coding	Benign
X	153777290	C	T	C153777290T	PLXNB3	NM_005393.3(PLXNB3):c.5010C>T:p.Ala1670=	coding	Benign
X	153781261	C	G	C153781261G	SRPK3	NM_014370.4(SRPK3):c.105C>G:p.Ala35=	coding	Benign
X	153782985	G	A	G153782985A	SRPK3	NM_014370.4(SRPK3):c.615G>A:p.Lys205=	coding	Benign
X	153784085	G	T	G153784085T	SRPK3	NM_014370.4(SRPK3):c.1019G>T:p.Gly340Val	coding	Benign
X	153794541	A	C	A153794541C	SSR4	NM_001204527.2(SSR4):c.11-133A>C	coding	Benign
X	153794667	C	T	C153794667T	SSR4	NM_001204527.2(SSR4):c.11-7C>T	coding	Benign
X	153796486	C	T	C153796486T	SSR4	NM_006280.3(SSR4):c.120C>T:p.Asp40=	coding	Benign/Likely_benign
X	153797512	C	T	C153797512T	SSR4	NM_006280.3(SSR4):c.241C>T:p.Gln81Ter	coding	Pathogenic
X	153797757	C	T	C153797757T	SSR4	NM_006280.3(SSR4):c.294C>T:p.His98=	coding	Benign
X	153798137	G	A	G153798137A	SSR4	NM_006280.3(SSR4):c.417+1G>A	coding	Pathogenic
X	153798328	G	A	G153798328A	SSR4	NM_006280.3(SSR4):c.418-1G>A	noncoding	Pathogenic
X	153862702	C	T	C153862702T	L1CAM	NM_001278116.2(L1CAM):c.3735G>A:p.Gly1245=	coding	Benign
X	153862747	A	G	A153862747G	L1CAM	NM_001278116.2(L1CAM):c.3690T>C:p.Ser1230=	coding	Benign
X	153862765	C	T	C153862765T	L1CAM	NM_001278116.2(L1CAM):c.3672G>A:p.Ser1224=	coding	Benign/Likely_benign
X	153862795	G	A	G153862795A	L1CAM	NM_001278116.2(L1CAM):c.3642C>T:p.Ser1214=	coding	Benign/Likely_benign
X	153862856	G	A	G153862856A	L1CAM	NM_001278116.2(L1CAM):c.3581C>T:p.Ser1194Leu	coding	Pathogenic
X	153862888	G	A	G153862888A	L1CAM	NM_001278116.2(L1CAM):c.3549C>T:p.Asn1183=	coding	Benign
X	153863469	C	T	C153863469T	L1CAM	NM_001278116.2(L1CAM):c.3530+8G>A	noncoding	Benign
X	153863488	G	A	G153863488A	L1CAM	NM_001278116.2(L1CAM):c.3519C>T:p.Phe1173=	coding	Benign/Likely_benign
X	153863511	G	A	G153863511A	L1CAM	NM_001278116.2(L1CAM):c.3496C>T:p.Arg1166Ter	coding	Pathogenic
X	153863518	A	G	A153863518G	L1CAM	NM_001278116.2(L1CAM):c.3489T>C:p.Ser1163=	coding	Benign
X	153863550	C	G	C153863550G	L1CAM	NM_001278116.2(L1CAM):c.3458-1G>C	coding	Pathogenic
X	153863583	G	A	G153863583A	L1CAM	NM_001278116.2(L1CAM):c.3458-34C>T	noncoding	Benign
X	153863865	G	A	G153863865A	L1CAM	NM_001278116.2(L1CAM):c.3457+18C>T	noncoding	Benign
X	153864013	G	A	G153864013A	L1CAM	NM_001278116.2(L1CAM):c.3327C>T:p.Arg1109=	coding	Benign
X	153864443	A	C	A153864443C	L1CAM	NM_001278116.2(L1CAM):c.3201T>G:p.Tyr1067Ter	coding	Pathogenic
X	153864584	C	A	C153864584A	L1CAM	NM_001278116.2(L1CAM):c.3166+1G>T	noncoding	Pathogenic
X	153864584	C	T	C153864584T	L1CAM	NM_001278116.2(L1CAM):c.3166+1G>A	noncoding	Pathogenic
X	153864670	C	A	C153864670A	L1CAM	NM_001278116.2(L1CAM):c.3081G>T:p.Ala1027=	coding	Benign/Likely_benign
X	153864670	C	T	C153864670T	L1CAM	NM_001278116.2(L1CAM):c.3081G>A:p.Ala1027=	coding	Benign/Likely_benign
X	153864680	G	C	G153864680C	L1CAM	NM_001278116.2(L1CAM):c.3071C>G:p.Ser1024Ter	coding	Pathogenic
X	153864698	G	C	G153864698C	L1CAM	NM_001278116.2(L1CAM):c.3053C>G:p.Ser1018Ter	coding	Pathogenic
X	153864893	G	A	G153864893A	L1CAM	NM_001278116.2(L1CAM):c.2974C>T:p.Gln992Ter	coding	Pathogenic
X	153865088	G	C	G153865088C	L1CAM	NM_001278116.2(L1CAM):c.2872C>G:p.Leu958Val	coding	Benign
X	153865351	G	A	G153865351A	L1CAM	NM_001278116.2(L1CAM):c.2697C>T:p.Asn899=	coding	Benign/Likely_benign
X	153865391	C	T	C153865391T	L1CAM	NM_001278116.2(L1CAM):c.2657G>A:p.Arg886Gln	coding	Benign/Likely_benign
X	153865489	C	T	C153865489T	L1CAM	NM_001278116.2(L1CAM):c.2559G>A:p.Trp853Ter	coding	Pathogenic
X	153865703	C	T	C153865703T	L1CAM	NM_001278116.2(L1CAM):c.2547+1G>A	noncoding	Pathogenic
X	153865707	G	T	G153865707T	L1CAM	NM_001278116.2(L1CAM):c.2544C>A:p.Tyr848Ter	coding	Pathogenic
X	153865818	G	T	G153865818T	L1CAM	NM_001278116.2(L1CAM):c.2433C>A:p.Tyr811Ter	coding	Pathogenic
X	153865838	T	G	T153865838G	L1CAM	NM_001278116.2(L1CAM):c.2432-19A>C	noncoding	Pathogenic
X	153866644	C	T	C153866644T	L1CAM	NM_001278116.2(L1CAM):c.2431+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	153866700	G	A	G153866700A	L1CAM	NM_001278116.2(L1CAM):c.2380C>T:p.Gln794Ter	coding	Pathogenic
X	153866729	T	C	T153866729C	L1CAM	NM_001278116.2(L1CAM):c.2351A>G:p.Tyr784Cys	coding	Pathogenic
X	153866773	G	A	G153866773A	L1CAM	NM_001278116.2(L1CAM):c.2307C>T:p.Ser769=	coding	Benign
X	153866802	G	A	G153866802A	L1CAM	NM_001278116.2(L1CAM):c.2278C>T:p.Arg760Ter	coding	Pathogenic
X	153866806	C	T	C153866806T	L1CAM	NM_001278116.2(L1CAM):c.2274G>A:p.Gly758=	coding	Benign/Likely_benign
X	153866826	C	T	C153866826T	L1CAM	NM_001278116.2(L1CAM):c.2254G>A:p.Val752Met	coding	Pathogenic
X	153866848	G	A	G153866848A	L1CAM	NM_001278116.2(L1CAM):c.2232C>T:p.Asn744=	coding	Benign
X	153866869	C	T	C153866869T	L1CAM	NM_001278116.2(L1CAM):c.2211G>A:p.Pro737=	coding	Benign/Likely_benign
X	153866877	G	A	G153866877A	L1CAM	NM_001278116.2(L1CAM):c.2209-6C>T	noncoding	Benign
X	153867401	C	T	C153867401T	L1CAM	NM_001278116.2(L1CAM):c.2092G>A:p.Gly698Arg	coding	Pathogenic
X	153867402	G	A	G153867402A	L1CAM	NM_001278116.2(L1CAM):c.2091C>T:p.Pro697=	coding	Benign
X	153867479	G	A	G153867479A	L1CAM	NM_001278116.2(L1CAM):c.2014C>T:p.Gln672Ter	coding	Pathogenic
X	153867516	A	G	A153867516G	L1CAM	NM_001278116.2(L1CAM):c.1977T>C:p.Pro659=	coding	Benign
X	153867799	C	T	C153867799T	L1CAM	NM_001278116.2(L1CAM):c.1939+1G>A	noncoding	Pathogenic
X	153867800	T	A	T153867800A	L1CAM	NM_001278116.2(L1CAM):c.1939A>T:p.Lys647Ter	coding	Pathogenic
X	153868034	C	T	C153868034T	L1CAM	NM_001278116.2(L1CAM):c.1792G>A:p.Asp598Asn	coding	Pathogenic
X	153868059	G	T	G153868059T	L1CAM	NM_001278116.2(L1CAM):c.1767C>A:p.Tyr589Ter	coding	Pathogenic
X	153868123	C	T	C153868123T	L1CAM	NM_001278116.2(L1CAM):c.1704-1G>A	coding	Pathogenic
X	153868134	C	G	C153868134G	L1CAM	NM_001278116.2(L1CAM):c.1704-12G>C	noncoding	Benign
X	153868136	G	A	G153868136A	L1CAM	NM_001278116.2(L1CAM):c.1704-14C>T	noncoding	Benign
X	153868156	C	G	C153868156G	L1CAM	NM_001278116.2(L1CAM):c.1704-34G>C	noncoding	Benign
X	153868292	C	G	C153868292G	L1CAM	NM_001278116.2(L1CAM):c.1703+10G>C	noncoding	Benign
X	153868333	G	A	G153868333A	L1CAM	NM_001278116.2(L1CAM):c.1672C>T:p.Arg558Ter	coding	Pathogenic
X	153868424	T	G	T153868424G	L1CAM	NM_001278116.2(L1CAM):c.1581A>C:p.Thr527=	coding	Benign/Likely_benign
X	153868462	A	T	A153868462T	L1CAM	NM_001278116.2(L1CAM):c.1547-4T>A	noncoding	Benign
X	153868622	G	C	G153868622C	L1CAM	NM_001278116.2(L1CAM):c.1485C>G:p.Tyr495Ter	coding	Pathogenic
X	153868631	G	A	G153868631A	L1CAM	NM_001278116.2(L1CAM):c.1476C>T:p.Thr492=	coding	Benign
X	153868654	G	A	G153868654A	L1CAM	NM_001278116.2(L1CAM):c.1453C>T:p.Arg485Ter	coding	Pathogenic
X	153868690	G	A	G153868690A	L1CAM	NM_001278116.2(L1CAM):c.1417C>T:p.Arg473Cys	coding	Pathogenic
X	153868699	G	A	G153868699A	L1CAM	NM_001278116.2(L1CAM):c.1408C>T:p.Gln470Ter	coding	Pathogenic
X	153868721	G	A	G153868721A	L1CAM	NM_001278116.2(L1CAM):c.1386C>T:p.Asp462=	coding	Benign
X	153868841	C	T	C153868841T	L1CAM	NM_001278116.2(L1CAM):c.1379G>A:p.Trp460Ter	coding	Pathogenic
X	153868866	C	T	C153868866T	L1CAM	NM_001278116.2(L1CAM):c.1354G>A:p.Gly452Arg	coding	Pathogenic
X	153868891	A	C	A153868891C	L1CAM	NM_001278116.2(L1CAM):c.1329T>G:p.Thr443=	coding	Benign
X	153868951	C	T	C153868951T	L1CAM	NM_001278116.2(L1CAM):c.1269G>A:p.Gln423=	coding	Benign
X	153868953	C	T	C153868953T	L1CAM	NM_001278116.2(L1CAM):c.1268-1G>A	coding	Pathogenic
X	153868962	G	A	G153868962A	L1CAM	NM_001278116.2(L1CAM):c.1268-10C>T	noncoding	Benign
X	153869519	C	T	C153869519T	L1CAM	NM_001278116.2(L1CAM):c.1267+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	153869520	G	A	G153869520A	L1CAM	NM_001278116.2(L1CAM):c.1267C>T:p.Gln423Ter	coding	Pathogenic
X	153869641	G	C	G153869641C	L1CAM	NM_001278116.2(L1CAM):c.1146C>G:p.Tyr382Ter	coding	Pathogenic
X	153869818	C	T	C153869818T	L1CAM	NM_001278116.2(L1CAM):c.1108G>A:p.Gly370Arg	coding	Pathogenic
X	153869876	G	A	G153869876A	L1CAM	NM_001278116.2(L1CAM):c.1050C>T:p.Ala350=	coding	Benign
X	153869924	G	A	G153869924A	L1CAM	NM_001278116.2(L1CAM):c.1002C>T:p.Tyr334=	coding	Benign
X	153869928	G	C	G153869928C	L1CAM	NM_001278116.2(L1CAM):c.998C>G:p.Pro333Arg	coding	Pathogenic
X	153869936	T	C	T153869936C	L1CAM	NM_001278116.2(L1CAM):c.992-2A>G	noncoding	Pathogenic
X	153870063	G	A	G153870063A	L1CAM	NM_001278116.2(L1CAM):c.984C>T:p.Thr328=	coding	Benign/Likely_benign
X	153870137	C	A	C153870137A	L1CAM	NM_001278116.2(L1CAM):c.910G>T:p.Glu304Ter	coding	Pathogenic
X	153870192	G	A	G153870192A	L1CAM	NM_001278116.2(L1CAM):c.855C>T:p.Ala285=	coding	Benign
X	153870246	C	T	C153870246T	L1CAM	NM_001278116.2(L1CAM):c.807-6G>A	noncoding	Pathogenic
X	153870387	C	G	C153870387G	L1CAM	NM_001278116.2(L1CAM):c.806+1G>C	noncoding	Pathogenic
X	153870403	C	T	C153870403T	L1CAM	NM_001278116.2(L1CAM):c.791G>A:p.Cys264Tyr	coding	Pathogenic
X	153870474	C	T	C153870474T	L1CAM	NM_001278116.2(L1CAM):c.720G>A:p.Pro240=	coding	Benign
X	153870475	G	A	G153870475A	L1CAM	NM_001278116.2(L1CAM):c.719C>T:p.Pro240Leu	coding	Pathogenic
X	153870835	T	G	T153870835G	L1CAM	NM_001278116.2(L1CAM):c.649A>C:p.Arg217=	coding	Benign/Likely_benign
X	153870854	G	T	G153870854T	L1CAM	NM_001278116.2(L1CAM):c.630C>A:p.His210Gln	coding	Pathogenic
X	153870933	C	T	C153870933T	L1CAM	NM_001278116.2(L1CAM):c.551G>A:p.Arg184Gln	coding	Pathogenic
X	153870948	A	C	A153870948C	L1CAM	NM_001278116.2(L1CAM):c.536T>G:p.Ile179Ser	coding	Pathogenic
X	153871045	G	A	G153871045A	L1CAM	NM_001278116.2(L1CAM):c.523+12C>T	noncoding	Pathogenic
X	153872147	C	T	C153872147T	L1CAM	NM_001278116.2(L1CAM):c.400+5G>A	noncoding	Pathogenic
X	153872156	G	A	G153872156A	L1CAM	NM_001278116.2(L1CAM):c.396C>T:p.Ala132=	coding	Benign/Likely_benign
X	153872258	C	T	C153872258T	L1CAM	NM_001278116.2(L1CAM):c.294G>A:p.Thr98=	coding	Benign/Likely_benign
X	153872286	G	A	G153872286A	L1CAM	NM_001278116.2(L1CAM):c.266C>T:p.Ser89Leu	coding	Benign
X	153872286	G	T	G153872286T	L1CAM	NM_001278116.2(L1CAM):c.266C>A:p.Ser89Ter	coding	Pathogenic
X	153872575	C	T	C153872575T	L1CAM	NM_001278116.2(L1CAM):c.197+17G>A	noncoding	Benign
X	153872676	G	A	G153872676A	L1CAM	NM_001278116.2(L1CAM):c.113C>T:p.Thr38Met	coding	Benign
X	153872690	C	G	C153872690G	L1CAM	NM_001278116.2(L1CAM):c.99G>C:p.Glu33Asp	coding	Benign
X	153872697	A	G	A153872697G	L1CAM	NM_001278116.2(L1CAM):c.92T>C:p.Val31Ala	coding	Benign
X	153875801	G	T	G153875801T	L1CAM	NM_001278116.2(L1CAM):c.36C>A:p.Leu12=	coding	Benign/Likely_benign
X	153875804	G	A	G153875804A	L1CAM	NM_001278116.2(L1CAM):c.33C>T:p.Leu11=	coding	Benign
X	153875809	G	A	G153875809A	L1CAM	NM_001278116.2(L1CAM):c.28C>T:p.Pro10Ser	coding	Benign
X	153875811	C	T	C153875811T	L1CAM	NM_001278116.2(L1CAM):c.26G>A:p.Trp9Ter	coding	Pathogenic
X	153905157	G	A	G153905157A	AVPR2	NM_000054.6(AVPR2):c.12G>A:p.Ala4=	coding	Benign
X	153905164	A	T	A153905164T	AVPR2	NM_000054.6(AVPR2):c.19A>T:p.Thr7Ser	coding	Benign
X	153905526	T	G	T153905526G	AVPR2	NM_000054.6(AVPR2):c.26-6T>G	noncoding	Benign/Likely_benign
X	153905541	G	A	G153905541A	AVPR2	NM_000054.6(AVPR2):c.35G>A:p.Gly12Glu	coding	Benign
X	153905611	G	A	G153905611A	AVPR2	NM_000054.6(AVPR2):c.105G>A:p.Leu35=	coding	Benign
X	153905623	G	A	G153905623A	AVPR2	NM_000054.6(AVPR2):c.117G>A:p.Ala39=	coding	Benign
X	153905631	C	T	C153905631T	AVPR2	NM_000054.6(AVPR2):c.125C>T:p.Ala42Val	coding	Benign
X	153905632	G	A	G153905632A	AVPR2	NM_000054.6(AVPR2):c.126G>A:p.Ala42=	coding	Benign
X	153905643	T	A	T153905643A	AVPR2	NM_000054.6(AVPR2):c.137T>A:p.Ile46Lys	coding	Pathogenic
X	153905680	G	A	G153905680A	AVPR2	NM_000054.6(AVPR2):c.174G>A:p.Val58=	coding	Benign
X	153905686	G	A	G153905686A	AVPR2	NM_000054.6(AVPR2):c.180G>A:p.Ala60=	coding	Benign
X	153905695	T	C	T153905695C	AVPR2	NM_000054.6(AVPR2):c.189T>C:p.Ala63=	coding	Benign/Likely_benign
X	153905709	G	A	G153905709A	AVPR2	NM_000054.6(AVPR2):c.203G>A:p.Arg68Gln	coding	Benign
X	153905719	G	A	G153905719A	AVPR2	NM_000054.6(AVPR2):c.213G>A:p.Trp71Ter	coding	Pathogenic
X	153905759	G	A	G153905759A	AVPR2	NM_000054.6(AVPR2):c.253G>A:p.Asp85Asn	coding	Pathogenic
X	153905816	C	T	C153905816T	AVPR2	NM_000054.6(AVPR2):c.310C>T:p.Arg104Cys	coding	Pathogenic
X	153905817	G	A	G153905817A	AVPR2	NM_000054.6(AVPR2):c.311G>A:p.Arg104His	coding	Benign
X	153905819	T	G	T153905819G	AVPR2	NM_000054.6(AVPR2):c.313T>G:p.Phe105Val	coding	Pathogenic
X	153905823	G	A	G153905823A	AVPR2	NM_000054.6(AVPR2):c.317G>A:p.Arg106His	coding	Benign
X	153905843	C	T	C153905843T	AVPR2	NM_000054.6(AVPR2):c.337C>T:p.Arg113Trp	coding	Pathogenic
X	153905889	A	C	A153905889C	AVPR2	NM_000054.6(AVPR2):c.383A>C:p.Tyr128Ser	coding	Pathogenic
X	153905894	A	T	A153905894T	AVPR2	NM_000054.6(AVPR2):c.388A>T:p.Ile130Phe	coding	Pathogenic
X	153905898	T	C	T153905898C	AVPR2	NM_000054.6(AVPR2):c.392T>C:p.Leu131Pro	coding	Pathogenic
X	153905901	C	A	C153905901A	AVPR2	NM_000054.6(AVPR2):c.395C>A:p.Ala132Asp	coding	Pathogenic
X	153905915	C	T	C153905915T	AVPR2	NM_000054.6(AVPR2):c.409C>T:p.Arg137Cys	coding	Pathogenic
X	153905916	G	A	G153905916A	AVPR2	NM_000054.6(AVPR2):c.410G>A:p.Arg137His	coding	Pathogenic
X	153905916	G	T	G153905916T	AVPR2	NM_000054.6(AVPR2):c.410G>T:p.Arg137Leu	coding	Pathogenic
X	153905922	G	A	G153905922A	AVPR2	NM_000054.6(AVPR2):c.416G>A:p.Arg139His	coding	Benign
X	153905946	C	T	C153905946T	AVPR2	NM_000054.6(AVPR2):c.440C>T:p.Ala147Val	coding	Benign
X	153905947	G	A	G153905947A	AVPR2	NM_000054.6(AVPR2):c.441G>A:p.Ala147=	coding	Benign
X	153906006	C	T	C153906006T	AVPR2	NM_000054.6(AVPR2):c.500C>T:p.Ser167Leu	coding	Pathogenic
X	153906047	C	T	C153906047T	AVPR2	NM_000054.6(AVPR2):c.541C>T:p.Arg181Cys	coding	Pathogenic
X	153906052	C	T	C153906052T	AVPR2	NM_000054.6(AVPR2):c.546C>T:p.Asn182=	coding	Benign
X	153906059	G	T	G153906059T	AVPR2	NM_000054.6(AVPR2):c.553G>T:p.Gly185Cys	coding	Pathogenic
X	153906108	G	A	G153906108A	AVPR2	NM_000054.6(AVPR2):c.602G>A:p.Gly201Asp	coding	Pathogenic
X	153906113	C	T	C153906113T	AVPR2	NM_000054.6(AVPR2):c.607C>T:p.Arg203Cys	coding	Pathogenic
X	153906120	A	G	A153906120G	AVPR2	NM_000054.6(AVPR2):c.614A>G:p.Tyr205Cys	coding	Pathogenic
X	153906149	G	A	G153906149A	AVPR2	NM_000054.6(AVPR2):c.643G>A:p.Val215Met	coding	Benign
X	153906246	G	A	G153906246A	AVPR2	NM_000054.6(AVPR2):c.740G>A:p.Arg247His	coding	Benign/Likely_benign
X	153906248	C	T	C153906248T	AVPR2	NM_000054.6(AVPR2):c.742C>T:p.Arg248Cys	coding	Benign
X	153906260	C	T	C153906260T	AVPR2	NM_000054.6(AVPR2):c.754C>T:p.Arg252Trp	coding	Benign/Likely_benign
X	153906275	G	A	G153906275A	AVPR2	NM_000054.6(AVPR2):c.769G>A:p.Gly257Ser	coding	Benign
X	153906345	A	G	A153906345G	AVPR2	NM_000054.6(AVPR2):c.839A>G:p.Tyr280Cys	coding	Pathogenic
X	153906384	G	A	G153906384A	AVPR2	NM_000054.6(AVPR2):c.878G>A:p.Trp293Ter	coding	Pathogenic
X	153906385	G	A	G153906385A	AVPR2	NM_000054.6(AVPR2):c.879G>A:p.Trp293Ter	coding	Pathogenic
X	153906521	A	G	A153906521G	AVPR2	NM_000054.6(AVPR2):c.911-2A>G	coding	Pathogenic
X	153906539	A	G	A153906539G	AVPR2	NM_000054.6(AVPR2):c.927A>G:p.Leu309=	coding	Benign
X	153906605	C	T	C153906605T	AVPR2	NM_000054.6(AVPR2):c.993C>T:p.Ser331=	coding	Benign
X	153906621	C	T	C153906621T	AVPR2	NM_000054.6(AVPR2):c.1009C>T:p.Arg337Ter	coding	Pathogenic
X	153906629	G	A	G153906629A	AVPR2	NM_000054.6(AVPR2):c.1017G>A:p.Leu339=	coding	Benign
X	153906725	G	A	G153906725A	AVPR2	NM_000054.6(AVPR2):c.1113G>A:p.Ser371=	coding	Benign
X	153906932	C	T	C153906932T	AVPR2	NM_000054.6(AVPR2):c.*204C>T	noncoding	Benign
X	153906985	G	A	G153906985A	AVPR2	NM_000054.6(AVPR2):c.*257G>A	noncoding	Benign
X	153907048	G	A	G153907048A	AVPR2	NM_000054.6(AVPR2):c.*320G>A	noncoding	Benign
X	153907054	A	C	A153907054C	AVPR2	NM_000054.6(AVPR2):c.*326A>C	noncoding	Benign
X	153907968	G	A	G153907968A	AVPR2	NM_001666.5(ARHGAP4):c.2608-6C>T	noncoding	Benign
X	153909539	C	T	C153909539T	ARHGAP4	NM_001666.5(ARHGAP4):c.2415-4G>A	noncoding	Benign
X	153910547	C	T	C153910547T	ARHGAP4	NM_001666.5(ARHGAP4):c.1881G>A:p.Pro627=	coding	Benign
X	153910800	A	G	A153910800G	ARHGAP4	NM_001666.5(ARHGAP4):c.1716T>C:p.His572=	coding	Benign
X	153913445	G	A	G153913445A	ARHGAP4	NM_001666.5(ARHGAP4):c.1290C>T:p.Arg430=	coding	Benign
X	153913475	G	A	G153913475A	ARHGAP4	NM_001666.5(ARHGAP4):c.1260C>T:p.Asp420=	coding	Benign
X	153926129	C	T	C153926129T	ARHGAP4	NM_001666.5(ARHGAP4):c.67+7G>A	noncoding	Benign
X	153930097	G	A	G153930097A	NAA10	NM_003491.4(NAA10):c.598C>T:p.Leu200=	coding	Benign
X	153930468	T	G	T153930468G	NAA10	NM_003491.4(NAA10):c.472-245A>C	noncoding	Benign
X	153930604	T	C	T153930604C	NAA10	NM_003491.4(NAA10):c.471+159A>G	noncoding	Benign
X	153930761	A	T	A153930761T	NAA10	NM_003491.4(NAA10):c.471+2T>A	noncoding	Pathogenic
X	153930892	G	A	G153930892A	NAA10	NM_003491.4(NAA10):c.387-45C>T	noncoding	Benign
X	153930976	C	A	C153930976A	NAA10	NM_003491.4(NAA10):c.387-129G>T	noncoding	Benign
X	153932073	A	C	A153932073C	NAA10	NM_003491.4(NAA10):c.384T>G:p.Phe128Leu	coding	Pathogenic
X	153932073	A	T	A153932073T	NAA10	NM_003491.4(NAA10):c.384T>A:p.Phe128Leu	coding	Pathogenic
X	153932075	A	T	A153932075T	NAA10	NM_003491.4(NAA10):c.382T>A:p.Phe128Ile	coding	Pathogenic/Likely_pathogenic
X	153932111	G	A	G153932111A	NAA10	NM_003491.4(NAA10):c.346C>T:p.Arg116Trp	coding	Pathogenic
X	153932325	A	C	A153932325C	NAA10	NM_003491.4(NAA10):c.332T>G:p.Val111Gly	coding	Pathogenic
X	153932338	C	A	C153932338A	NAA10	NM_003491.4(NAA10):c.319G>T:p.Val107Phe	coding	Pathogenic
X	153932400	A	C	A153932400C	NAA10	NM_003491.4(NAA10):c.257T>G:p.Leu86Arg	coding	Pathogenic
X	153932410	G	A	G153932410A	NAA10	NM_003491.4(NAA10):c.247C>T:p.Arg83Cys	coding	Pathogenic
X	153933994	T	G	T153933994G	NAA10	NM_003491.4(NAA10):c.128A>C:p.Tyr43Ser	coding	Pathogenic
X	153934388	A	G	A153934388G	NAA10	NM_003491.4(NAA10):c.109T>C:p.Ser37Pro	coding	Pathogenic
X	153934450	T	G	T153934450G	NAA10	NM_003491.4(NAA10):c.47A>C:p.His16Pro	coding	Pathogenic/Likely_pathogenic
X	153934567	G	C	G153934567C	NAA10	NM_003491.4(NAA10):c.22-92C>G	noncoding	Benign
X	153935408	C	T	C153935408T	RENBP	NM_002910.6(RENBP):c.1166-4G>A	noncoding	Benign
X	153935586	C	A	C153935586A	RENBP	NM_002910.6(RENBP):c.1078-10G>T	noncoding	Benign
X	153942913	G	A	G153942913A	RENBP	NM_002910.6(RENBP):c.629C>T:p.Ala210Val	coding	Benign
X	153949628	G	A	G153949628A	HCFC1	NM_005334.3(HCFC1):c.6005-12C>T	noncoding	Benign
X	153950289	G	A	G153950289A	HCFC1	NM_005334.3(HCFC1):c.5958C>T:p.Arg1986=	coding	Benign/Likely_benign
X	153950387	C	T	C153950387T	HCFC1	NM_005334.3(HCFC1):c.5860G>A:p.Gly1954Arg	coding	Pathogenic
X	153950388	G	A	G153950388A	HCFC1	NM_005334.3(HCFC1):c.5859C>T:p.Cys1953=	coding	Benign
X	153950915	G	A	G153950915A	HCFC1	NM_005334.3(HCFC1):c.5601C>T:p.Ala1867=	coding	Benign
X	153951377	C	T	C153951377T	HCFC1	NM_005334.3(HCFC1):c.5490G>A:p.Leu1830=	coding	Benign
X	153951449	C	T	C153951449T	HCFC1	NM_005334.3(HCFC1):c.5418G>A:p.Met1806Ile	coding	Benign/Likely_benign
X	153951670	C	T	C153951670T	HCFC1	NM_005334.3(HCFC1):c.5298G>A:p.Pro1766=	coding	Benign/Likely_benign
X	153951692	T	C	T153951692C	HCFC1	NM_005334.3(HCFC1):c.5276A>G:p.Asn1759Ser	coding	Benign/Likely_benign
X	153952053	G	C	G153952053C	HCFC1	NM_005334.3(HCFC1):c.5048C>G:p.Pro1683Arg	coding	Pathogenic
X	153952731	G	A	G153952731A	HCFC1	NM_005334.3(HCFC1):c.4725C>T:p.Pro1575=	coding	Benign
X	153952760	C	T	C153952760T	HCFC1	NM_005334.3(HCFC1):c.4696G>A:p.Val1566Met	coding	Benign
X	153952830	C	T	C153952830T	HCFC1	NM_005334.3(HCFC1):c.4626G>A:p.Glu1542=	coding	Benign/Likely_benign
X	153952911	C	T	C153952911T	HCFC1	NM_005334.3(HCFC1):c.4545G>A:p.Pro1515=	coding	Benign
X	153952914	C	A	C153952914A	HCFC1	NM_005334.3(HCFC1):c.4542G>T:p.Leu1514=	coding	Benign
X	153953640	C	T	C153953640T	HCFC1	NM_005334.3(HCFC1):c.4464G>A:p.Thr1488=	coding	Benign
X	153953662	G	A	G153953662A	HCFC1	NM_005334.3(HCFC1):c.4442C>T:p.Thr1481Met	coding	Benign/Likely_benign
X	153954103	C	T	C153954103T	HCFC1	NM_005334.3(HCFC1):c.4296G>A:p.Thr1432=	coding	Benign
X	153954214	C	T	C153954214T	HCFC1	NM_005334.3(HCFC1):c.4185G>A:p.Ala1395=	coding	Benign
X	153954240	C	T	C153954240T	HCFC1	NM_005334.3(HCFC1):c.4159G>A:p.Val1387Met	coding	Benign/Likely_benign
X	153954282	C	T	C153954282T	HCFC1	NM_005334.3(HCFC1):c.4117G>A:p.Val1373Met	coding	Benign
X	153954331	G	A	G153954331A	HCFC1	NM_005334.3(HCFC1):c.4068C>T:p.Pro1356=	coding	Benign/Likely_benign
X	153954373	C	T	C153954373T	HCFC1	NM_005334.3(HCFC1):c.4026G>A:p.Thr1342=	coding	Benign
X	153954469	T	A	T153954469A	HCFC1	NM_005334.3(HCFC1):c.3930A>T:p.Ala1310=	coding	Benign
X	153954546	C	T	C153954546T	HCFC1	NM_005334.3(HCFC1):c.3853G>A:p.Val1285Met	coding	Benign
X	153954605	G	A	G153954605A	HCFC1	NM_005334.3(HCFC1):c.3794C>T:p.Ser1265Leu	coding	Benign/Likely_benign
X	153954642	G	A	G153954642A	HCFC1	NM_005334.3(HCFC1):c.3757C>T:p.Arg1253Cys	coding	Benign/Likely_benign
X	153954784	G	A	G153954784A	HCFC1	NM_005334.3(HCFC1):c.3615C>T:p.Ser1205=	coding	Benign
X	153954831	C	T	C153954831T	HCFC1	NM_005334.3(HCFC1):c.3568G>A:p.Gly1190Ser	coding	Benign
X	153954909	A	G	A153954909G	HCFC1	NM_005334.3(HCFC1):c.3490T>C:p.Ser1164Pro	coding	Benign
X	153955018	G	A	G153955018A	HCFC1	NM_005334.3(HCFC1):c.3381C>T:p.Val1127=	coding	Benign/Likely_benign
X	153955171	C	T	C153955171T	HCFC1	NM_005334.3(HCFC1):c.3228G>A:p.Ser1076=	coding	Benign
X	153955425	C	T	C153955425T	HCFC1	NM_005334.3(HCFC1):c.2974G>A:p.Ala992Thr	coding	Benign/Likely_benign
X	153955513	C	T	C153955513T	HCFC1	NM_005334.3(HCFC1):c.2886G>A:p.Leu962=	coding	Benign
X	153955527	T	C	T153955527C	HCFC1	NM_005334.3(HCFC1):c.2872A>G:p.Thr958Ala	coding	Benign/Likely_benign
X	153956206	T	C	T153956206C	HCFC1	NM_005334.3(HCFC1):c.2841A>G:p.Pro947=	coding	Benign
X	153956260	G	A	G153956260A	HCFC1	NM_005334.3(HCFC1):c.2787C>T:p.Ile929=	coding	Benign/Likely_benign
X	153956380	G	A	G153956380A	HCFC1	NM_005334.3(HCFC1):c.2667C>T:p.Thr889=	coding	Benign
X	153956670	C	T	C153956670T	HCFC1	NM_005334.3(HCFC1):c.2590G>A:p.Ala864Thr	coding	Benign/Likely_benign
X	153957032	G	T	G153957032T	HCFC1	NM_005334.3(HCFC1):c.2382C>A:p.Ser794=	coding	Benign
X	153957354	G	A	G153957354A	HCFC1	NM_005334.3(HCFC1):c.2313C>T:p.Thr771=	coding	Benign/Likely_benign
X	153957384	G	C	G153957384C	HCFC1	NM_005334.3(HCFC1):c.2283C>G:p.Thr761=	coding	Benign
X	153957806	C	T	C153957806T	HCFC1	NM_005334.3(HCFC1):c.2109G>A:p.Thr703=	coding	Benign/Likely_benign
X	153957895	G	C	G153957895C	HCFC1	NM_005334.3(HCFC1):c.2029-9C>G	noncoding	Benign
X	153958067	G	A	G153958067A	HCFC1	NM_005334.3(HCFC1):c.1986C>T:p.Thr662=	coding	Benign
X	153959311	C	A	C153959311A	HCFC1	NM_005334.3(HCFC1):c.1605+20G>T	noncoding	Benign
X	153959505	G	A	G153959505A	HCFC1	NM_005334.3(HCFC1):c.1445-14C>T	noncoding	Benign
X	153960127	T	C	T153960127C	HCFC1	NM_005334.3(HCFC1):c.1119A>G:p.Val373=	coding	Benign/Likely_benign
X	153960173	C	T	C153960173T	HCFC1	NM_005334.3(HCFC1):c.1085-12G>A	noncoding	Benign
X	153960183	G	C	G153960183C	HCFC1	NM_005334.3(HCFC1):c.1085-22C>G	noncoding	Benign
X	153961975	A	G	A153961975G	HCFC1	NM_005334.3(HCFC1):c.797+247T>C	noncoding	Benign
X	153962302	G	C	G153962302C	HCFC1	NM_005334.3(HCFC1):c.717C>G:p.Thr239=	coding	Benign/Likely_benign
X	153962319	G	A	G153962319A	HCFC1	NM_005334.3(HCFC1):c.713-13C>T	noncoding	Benign
X	153963263	C	T	C153963263T	HCFC1	NM_005334.3(HCFC1):c.674G>A:p.Ser225Asn	coding	Pathogenic
X	153964283	G	A	G153964283A	HCFC1	NM_005334.3(HCFC1):c.344C>T:p.Ala115Val	coding	Pathogenic
X	153964702	G	A	G153964702A	HCFC1	NM_005334.3(HCFC1):c.218C>T:p.Ala73Val	coding	Pathogenic
X	153964703	C	T	C153964703T	HCFC1	NM_005334.3(HCFC1):c.217G>A:p.Ala73Thr	coding	Pathogenic
X	153971810	A	G	A153971810G	HCFC1	NM_005334.3(HCFC1):c.-970T>C	noncoding	Pathogenic
X	153982475	G	A	G153982475A	TMEM187	NM_003492.3(TMEM187):c.413G>A:p.Arg138Gln	coding	Benign
X	153982842	G	A	G153982842A	TMEM187	NM_003492.3(TMEM187):c.780G>A:p.Thr260=	coding	Benign
X	154013099	G	A	G154013099A	IRAK1	NM_001569.4(IRAK1):c.1874C>T:p.Thr625Met	coding	Benign
X	154013174	C	T	C154013174T	IRAK1	NM_001569.4(IRAK1):c.1799G>A:p.Arg600His	coding	Benign
X	154016569	G	A	G154016569A	IRAK1	NM_001569.4(IRAK1):c.1104C>T:p.Ala368=	coding	Benign
X	154018721	A	T	A154018721T	IRAK1	NM_001569.4(IRAK1):c.607T>A:p.Cys203Ser	coding	Benign
X	154018747	C	T	C154018747T	IRAK1	NM_001569.4(IRAK1):c.581G>A:p.Arg194His	coding	Benign
X	154019272	T	G	T154019272G	IRAK1	NM_001569.4(IRAK1):c.361A>C:p.Ile121Leu	coding	Benign
X	154021867	G	C	G154021867C	MECP2	NM_004992.3(MECP2):c.*8500C>G	noncoding	Benign
X	154022511	T	G	T154022511G	MECP2	NM_004992.3(MECP2):c.*7856A>C	noncoding	Benign
X	154022619	G	A	G154022619A	MECP2	NM_004992.3(MECP2):c.*7748C>T	noncoding	Benign
X	154024528	G	A	G154024528A	MECP2	NM_004992.3(MECP2):c.*5839C>T	noncoding	Benign
X	154025791	T	G	T154025791G	MECP2	NM_004992.3(MECP2):c.*4576A>C	noncoding	Benign
X	154026489	C	G	C154026489G	MECP2	NM_004992.3(MECP2):c.*3878G>C	noncoding	Benign
X	154026705	T	C	T154026705C	MECP2	NM_004992.3(MECP2):c.*3662A>G	noncoding	Benign
X	154026890	C	T	C154026890T	MECP2	NM_004992.3(MECP2):c.*3477G>A	noncoding	Benign
X	154028630	C	T	C154028630T	MECP2	NM_004992.3(MECP2):c.*1737G>A	noncoding	Benign
X	154029130	A	G	A154029130G	MECP2	NM_004992.3(MECP2):c.*1237T>C	noncoding	Benign
X	154029233	C	T	C154029233T	MECP2	NM_004992.3(MECP2):c.*1134G>A	noncoding	Benign
X	154029489	G	C	G154029489C	MECP2	NM_004992.3(MECP2):c.*878C>G	noncoding	Benign
X	154029536	C	G	C154029536G	MECP2	NM_004992.3(MECP2):c.*831G>C	noncoding	Benign
X	154029561	C	T	C154029561T	MECP2	NM_004992.3(MECP2):c.*806G>A	noncoding	Benign
X	154029838	C	A	C154029838A	MECP2	NM_004992.3(MECP2):c.*529G>T	noncoding	Benign
X	154029878	C	G	C154029878G	MECP2	NM_004992.3(MECP2):c.*489G>C	noncoding	Benign
X	154029880	C	G	C154029880G	MECP2	NM_004992.3(MECP2):c.*487G>C	noncoding	Benign
X	154029974	C	T	C154029974T	MECP2	NM_004992.3(MECP2):c.*393G>A	noncoding	Benign
X	154030004	C	G	C154030004G	MECP2	NM_004992.3(MECP2):c.*363G>C	noncoding	Benign
X	154030008	C	G	C154030008G	MECP2	NM_004992.3(MECP2):c.*359G>C	noncoding	Benign
X	154030039	C	T	C154030039T	MECP2	NM_004992.3(MECP2):c.*328G>A	noncoding	Benign
X	154030274	C	T	C154030274T	MECP2	NM_004992.3(MECP2):c.*93G>A	noncoding	Benign
X	154030275	G	A	G154030275A	MECP2	NM_004992.3(MECP2):c.*92C>T	noncoding	Benign
X	154030312	G	C	G154030312C	MECP2	NM_004992.3(MECP2):c.*55C>G	noncoding	Benign
X	154030331	C	G	C154030331G	MECP2	NM_004992.3(MECP2):c.*36G>C	noncoding	Benign
X	154030354	G	A	G154030354A	MECP2	NM_004992.3(MECP2):c.*13C>T	noncoding	Benign/Likely_benign
X	154030358	C	T	C154030358T	MECP2	NM_004992.3(MECP2):c.*9G>A	noncoding	Benign
X	154030359	G	A	G154030359A	MECP2	NM_004992.3(MECP2):c.*8C>T	noncoding	Benign
X	154030377	C	G	C154030377G	MECP2	NM_001110792.2(MECP2):c.1487G>C:p.Arg496Thr	coding	Benign/Likely_benign
X	154030382	G	A	G154030382A	MECP2	NM_001110792.2(MECP2):c.1482C>T:p.Thr494=	coding	Benign
X	154030390	G	A	G154030390A	MECP2	NM_001110792.2(MECP2):c.1474C>T:p.Pro492Ser	coding	Benign
X	154030391	C	T	C154030391T	MECP2	NM_001110792.2(MECP2):c.1473G>A:p.Thr491=	coding	Benign/Likely_benign
X	154030392	G	A	G154030392A	MECP2	NM_001110792.2(MECP2):c.1472C>T:p.Thr491Met	coding	Benign
X	154030455	C	T	C154030455T	MECP2	NM_001110792.2(MECP2):c.1409G>A:p.Arg470His	coding	Benign
X	154030456	G	A	G154030456A	MECP2	NM_001110792.2(MECP2):c.1408C>T:p.Arg470Cys	coding	Benign
X	154030465	C	A	C154030465A	MECP2	NM_001110792.2(MECP2):c.1399G>T:p.Glu467Ter	coding	Pathogenic
X	154030471	G	A	G154030471A	MECP2	NM_001110792.2(MECP2):c.1393C>T:p.Arg465Ter	coding	Pathogenic
X	154030489	C	T	C154030489T	MECP2	NM_001110792.2(MECP2):c.1375G>A:p.Ala459Thr	coding	Benign
X	154030493	C	T	C154030493T	MECP2	NM_001110792.2(MECP2):c.1371G>A:p.Thr457=	coding	Benign/Likely_benign
X	154030498	C	T	C154030498T	MECP2	NM_001110792.2(MECP2):c.1366G>A:p.Ala456Thr	coding	Benign/Likely_benign
X	154030499	G	A	G154030499A	MECP2	NM_001110792.2(MECP2):c.1365C>T:p.Ala455=	coding	Benign
X	154030502	G	A	G154030502A	MECP2	NM_001110792.2(MECP2):c.1362C>T:p.Thr454=	coding	Benign
X	154030511	C	T	C154030511T	MECP2	NM_001110792.2(MECP2):c.1353G>A:p.Ala451=	coding	Benign/Likely_benign
X	154030513	C	T	C154030513T	MECP2	NM_001110792.2(MECP2):c.1351G>A:p.Ala451Thr	coding	Benign/Likely_benign
X	154030537	T	G	T154030537G	MECP2	NM_001110792.2(MECP2):c.1327A>C:p.Lys443Gln	coding	Benign
X	154030539	G	A	G154030539A	MECP2	NM_001110792.2(MECP2):c.1325C>T:p.Pro442Leu	coding	Benign
X	154030540	G	A	G154030540A	MECP2	NM_001110792.2(MECP2):c.1324C>T:p.Pro442Ser	coding	Benign
X	154030544	G	A	G154030544A	MECP2	NM_001110792.2(MECP2):c.1320C>T:p.Gly440=	coding	Benign
X	154030546	C	T	C154030546T	MECP2	NM_001110792.2(MECP2):c.1318G>A:p.Gly440Ser	coding	Benign/Likely_benign
X	154030562	G	A	G154030562A	MECP2	NM_001110792.2(MECP2):c.1302C>T:p.Gly434=	coding	Benign
X	154030571	G	A	G154030571A	MECP2	NM_001110792.2(MECP2):c.1293C>T:p.Pro431=	coding	Benign
X	154030594	C	T	C154030594T	MECP2	NM_001110792.2(MECP2):c.1270G>A:p.Val424Ile	coding	Benign/Likely_benign
X	154030595	G	A	G154030595A	MECP2	NM_001110792.2(MECP2):c.1269C>T:p.Ser423=	coding	Benign
X	154030612	G	A	G154030612A	MECP2	NM_001110792.2(MECP2):c.1252C>T:p.Gln418Ter	coding	Pathogenic
X	154030613	G	A	G154030613A	MECP2	NM_001110792.2(MECP2):c.1251C>T:p.Pro417=	coding	Benign/Likely_benign
X	154030622	G	A	G154030622A	MECP2	NM_001110792.2(MECP2):c.1242C>T:p.Pro414=	coding	Benign/Likely_benign
X	154030626	C	G	C154030626G	MECP2	NM_001110792.2(MECP2):c.1238G>C:p.Ser413Thr	coding	Benign
X	154030626	C	T	C154030626T	MECP2	NM_001110792.2(MECP2):c.1238G>A:p.Ser413Asn	coding	Benign
X	154030631	G	A	G154030631A	MECP2	NM_001110792.2(MECP2):c.1233C>T:p.Pro411=	coding	Benign/Likely_benign
X	154030639	C	A	C154030639A	MECP2	NM_001110792.2(MECP2):c.1225G>T:p.Glu409Ter	coding	Pathogenic
X	154030639	C	T	C154030639T	MECP2	NM_001110792.2(MECP2):c.1225G>A:p.Glu409Lys	coding	Benign/Likely_benign
X	154030643	G	A	G154030643A	MECP2	NM_001110792.2(MECP2):c.1221C>T:p.Ser407=	coding	Benign
X	154030648	C	A	C154030648A	MECP2	NM_001110792.2(MECP2):c.1216G>T:p.Glu406Ter	coding	Pathogenic
X	154030648	C	T	C154030648T	MECP2	NM_001110792.2(MECP2):c.1216G>A:p.Glu406Lys	coding	Benign/Likely_benign
X	154030652	C	T	C154030652T	MECP2	NM_001110792.2(MECP2):c.1212G>A:p.Glu404=	coding	Benign
X	154030665	G	A	G154030665A	MECP2	NM_001110792.2(MECP2):c.1199C>T:p.Pro400Leu	coding	Benign
X	154030666	G	C	G154030666C	MECP2	NM_001110792.2(MECP2):c.1198C>G:p.Pro400Ala	coding	Benign/Likely_benign
X	154030667	G	A	G154030667A	MECP2	NM_001110792.2(MECP2):c.1197C>T:p.Pro399=	coding	Benign
X	154030668	G	A	G154030668A	MECP2	NM_001110792.2(MECP2):c.1196C>T:p.Pro399Leu	coding	Benign/Likely_benign
X	154030687	G	C	G154030687C	MECP2	NM_001110792.2(MECP2):c.1177C>G:p.Pro393Ala	coding	Benign
X	154030688	C	T	C154030688T	MECP2	NM_001110792.2(MECP2):c.1176G>A:p.Val392=	coding	Benign/Likely_benign
X	154030691	G	A	G154030691A	MECP2	NM_001110792.2(MECP2):c.1173C>T:p.Pro391=	coding	Benign
X	154030710	G	C	G154030710C	MECP2	NM_001110792.2(MECP2):c.1154C>G:p.Ser385Ter	coding	Pathogenic
X	154030741	T	A	T154030741A	MECP2	NM_001110792.2(MECP2):c.1123A>T:p.Lys375Ter	coding	Pathogenic
X	154030744	G	C	G154030744C	MECP2	NM_001110792.2(MECP2):c.1120C>G:p.Pro374Ala	coding	Benign
X	154030747	G	C	G154030747C	MECP2	NM_001110792.2(MECP2):c.1117C>G:p.Pro373Ala	coding	Benign
X	154030749	G	T	G154030749T	MECP2	NM_001110792.2(MECP2):c.1115C>A:p.Ser372Ter	coding	Pathogenic
X	154030753	A	G	A154030753G	MECP2	NM_001110792.2(MECP2):c.1111T>C:p.Ser371Pro	coding	Benign/Likely_benign
X	154030756	C	T	C154030756T	MECP2	NM_001110792.2(MECP2):c.1108G>A:p.Ala370Thr	coding	Benign/Likely_benign
X	154030757	G	A	G154030757A	MECP2	NM_001110792.2(MECP2):c.1107C>T:p.Ser369=	coding	Benign/Likely_benign
X	154030763	G	A	G154030763A	MECP2	NM_001110792.2(MECP2):c.1101C>T:p.Ser367=	coding	Benign
X	154030767	C	A	C154030767A	MECP2	NM_001110792.2(MECP2):c.1097G>T:p.Arg366Leu	coding	Benign
X	154030775	G	C	G154030775C	MECP2	NM_001110792.2(MECP2):c.1089C>G:p.Pro363=	coding	Benign
X	154030790	G	C	G154030790C	MECP2	NM_001110792.2(MECP2):c.1074C>G:p.Ser358Arg	coding	Pathogenic
X	154030793	T	C	T154030793C	MECP2	NM_001110792.2(MECP2):c.1071A>G:p.Lys357=	coding	Benign
X	154030829	C	A	C154030829A	MECP2	NM_001110792.2(MECP2):c.1035G>T:p.Gly345=	coding	Benign
X	154030832	G	A	G154030832A	MECP2	NM_001110792.2(MECP2):c.1032C>T:p.Ser344=	coding	Benign/Likely_benign
X	154030836	T	C	T154030836C	MECP2	NM_001110792.2(MECP2):c.1028A>G:p.Lys343Arg	coding	Benign
X	154030843	C	T	C154030843T	MECP2	NM_001110792.2(MECP2):c.1021G>A:p.Gly341Ser	coding	Benign
X	154030844	G	A	G154030844A	MECP2	NM_001110792.2(MECP2):c.1020C>T:p.Leu340=	coding	Benign
X	154030844	G	T	G154030844T	MECP2	NM_001110792.2(MECP2):c.1020C>A:p.Leu340=	coding	Benign
X	154030863	G	A	G154030863A	MECP2	NM_001110792.2(MECP2):c.1001C>T:p.Pro334Leu	coding	Pathogenic
X	154030864	G	A	G154030864A	MECP2	NM_001110792.2(MECP2):c.1000C>T:p.Pro334Ser	coding	Pathogenic
X	154030880	G	C	G154030880C	MECP2	NM_001110792.2(MECP2):c.984C>G:p.Val328=	coding	Benign
X	154030886	G	A	G154030886A	MECP2	NM_001110792.2(MECP2):c.978C>T:p.Ile326=	coding	Benign/Likely_benign
X	154030903	G	A	G154030903A	MECP2	NM_001110792.2(MECP2):c.961C>T:p.Arg321Trp	coding	Pathogenic/Likely_pathogenic
X	154030911	C	T	C154030911T	MECP2	NM_001110792.2(MECP2):c.953G>A:p.Arg318His	coding	Pathogenic/Likely_pathogenic
X	154030912	G	A	G154030912A	MECP2	NM_001110792.2(MECP2):c.952C>T:p.Arg318Cys	coding	Pathogenic
X	154030918	T	G	T154030918G	MECP2	NM_001110792.2(MECP2):c.946A>C:p.Lys316Gln	coding	Pathogenic
X	154030922	G	C	G154030922C	MECP2	NM_001110792.2(MECP2):c.942C>G:p.Pro314=	coding	Benign
X	154030923	G	A	G154030923A	MECP2	NM_001110792.2(MECP2):c.941C>T:p.Pro314Leu	coding	Pathogenic/Likely_pathogenic
X	154030923	G	C	G154030923C	MECP2	NM_001110792.2(MECP2):c.941C>G:p.Pro314Arg	coding	Pathogenic
X	154030923	G	T	G154030923T	MECP2	NM_001110792.2(MECP2):c.941C>A:p.Pro314His	coding	Pathogenic
X	154030924	G	A	G154030924A	MECP2	NM_001110792.2(MECP2):c.940C>T:p.Pro314Ser	coding	Pathogenic
X	154030925	G	A	G154030925A	MECP2	NM_001110792.2(MECP2):c.939C>T:p.Leu313=	coding	Benign
X	154030931	G	A	G154030931A	MECP2	NM_001110792.2(MECP2):c.933C>T:p.Thr311=	coding	Benign/Likely_benign
X	154030939	G	A	G154030939A	MECP2	NM_001110792.2(MECP2):c.925C>T:p.Gln309Ter	coding	Pathogenic
X	154030947	C	G	C154030947G	MECP2	NM_001110792.2(MECP2):c.917G>C:p.Arg306Pro	coding	Benign
X	154030948	G	A	G154030948A	MECP2	NM_001110792.2(MECP2):c.916C>T:p.Arg306Ter	coding	Pathogenic/Likely_pathogenic
X	154030958	C	T	C154030958T	MECP2	NM_001110792.2(MECP2):c.906G>A:p.Glu302=	coding	Benign
X	154030963	T	A	T154030963A	MECP2	NM_001110792.2(MECP2):c.901A>T:p.Lys301Ter	coding	Pathogenic
X	154030967	G	A	G154030967A	MECP2	NM_001110792.2(MECP2):c.897C>T:p.Ala299=	coding	Benign
X	154030979	G	C	G154030979C	MECP2	NM_001110792.2(MECP2):c.885C>G:p.Ala295=	coding	Benign/Likely_benign
X	154030985	G	A	G154030985A	MECP2	NM_001110792.2(MECP2):c.879C>T:p.Ala293=	coding	Benign
X	154030994	G	A	G154030994A	MECP2	NM_001110792.2(MECP2):c.870C>T:p.Ala290=	coding	Benign/Likely_benign
X	154031009	C	A	C154031009A	MECP2	NM_001110792.2(MECP2):c.855G>T:p.Gly285=	coding	Benign
X	154031013	G	A	G154031013A	MECP2	NM_001110792.2(MECP2):c.851C>T:p.Pro284Leu	coding	Benign/Likely_benign
X	154031018	T	C	T154031018C	MECP2	NM_001110792.2(MECP2):c.846A>G:p.Arg282=	coding	Benign/Likely_benign
X	154031020	G	A	G154031020A	MECP2	NM_001110792.2(MECP2):c.844C>T:p.Arg282Ter	coding	Pathogenic
X	154031029	T	A	T154031029A	MECP2	NM_001110792.2(MECP2):c.835A>T:p.Lys279Ter	coding	Pathogenic
X	154031033	G	C	G154031033C	MECP2	NM_001110792.2(MECP2):c.831C>G:p.Pro277=	coding	Benign
X	154031044	G	A	G154031044A	MECP2	NM_001110792.2(MECP2):c.820C>T:p.Gln274Ter	coding	Pathogenic
X	154031051	G	A	G154031051A	MECP2	NM_001110792.2(MECP2):c.813C>T:p.Ala271=	coding	Benign/Likely_benign
X	154031062	T	A	T154031062A	MECP2	NM_001110792.2(MECP2):c.802A>T:p.Lys268Ter	coding	Pathogenic
X	154031065	G	A	G154031065A	MECP2	NM_001110792.2(MECP2):c.799C>T:p.Arg267Ter	coding	Pathogenic/Likely_pathogenic
X	154031068	T	A	T154031068A	MECP2	NM_001110792.2(MECP2):c.796A>T:p.Lys266Ter	coding	Pathogenic
X	154031075	G	A	G154031075A	MECP2	NM_001110792.2(MECP2):c.789C>T:p.Pro263=	coding	Benign/Likely_benign
X	154031076	G	A	G154031076A	MECP2	NM_001110792.2(MECP2):c.788C>T:p.Pro263Leu	coding	Benign
X	154031078	G	A	G154031078A	MECP2	NM_001110792.2(MECP2):c.786C>T:p.Arg262=	coding	Benign/Likely_benign
X	154031078	G	T	G154031078T	MECP2	NM_001110792.2(MECP2):c.786C>A:p.Arg262=	coding	Benign/Likely_benign
X	154031093	G	C	G154031093C	MECP2	NM_001110792.2(MECP2):c.771C>G:p.Val257=	coding	Benign
X	154031098	G	A	G154031098A	MECP2	NM_001110792.2(MECP2):c.766C>T:p.Gln256Ter	coding	Pathogenic
X	154031108	G	C	G154031108C	MECP2	NM_001110792.2(MECP2):c.756C>G:p.Thr252=	coding	Benign
X	154031133	C	G	C154031133G	MECP2	NM_001110792.2(MECP2):c.731G>C:p.Gly244Ala	coding	Benign
X	154031142	G	A	G154031142A	MECP2	NM_001110792.2(MECP2):c.722C>T:p.Ser241Leu	coding	Benign/Likely_benign
X	154031142	G	T	G154031142T	MECP2	NM_001110792.2(MECP2):c.722C>A:p.Ser241Ter	coding	Pathogenic
X	154031145	G	C	G154031145C	MECP2	NM_001110792.2(MECP2):c.719C>G:p.Thr240Ser	coding	Benign
X	154031154	G	A	G154031154A	MECP2	NM_001110792.2(MECP2):c.710C>T:p.Pro237Leu	coding	Pathogenic
X	154031154	G	C	G154031154C	MECP2	NM_001110792.2(MECP2):c.710C>G:p.Pro237Arg	coding	Pathogenic
X	154031155	G	T	G154031155T	MECP2	NM_001110792.2(MECP2):c.709C>A:p.Pro237Thr	coding	Pathogenic
X	154031162	G	C	G154031162C	MECP2	NM_001110792.2(MECP2):c.702C>G:p.Val234=	coding	Benign
X	154031168	G	A	G154031168A	MECP2	NM_001110792.2(MECP2):c.696C>T:p.Leu232=	coding	Benign/Likely_benign
X	154031195	C	G	C154031195G	MECP2	NM_001110792.2(MECP2):c.669G>C:p.Arg223Ser	coding	Benign/Likely_benign
X	154031201	C	T	C154031201T	MECP2	NM_001110792.2(MECP2):c.663G>A:p.Val221=	coding	Benign
X	154031206	G	A	G154031206A	MECP2	NM_001110792.2(MECP2):c.658C>T:p.Gln220Ter	coding	Pathogenic
X	154031215	C	A	C154031215A	MECP2	NM_001110792.2(MECP2):c.649G>T:p.Glu217Ter	coding	Pathogenic
X	154031217	G	C	G154031217C	MECP2	NM_001110792.2(MECP2):c.647C>G:p.Ser216Ter	coding	Pathogenic
X	154031219	C	T	C154031219T	MECP2	NM_001110792.2(MECP2):c.645G>A:p.Thr215=	coding	Benign
X	154031220	G	A	G154031220A	MECP2	NM_001110792.2(MECP2):c.644C>T:p.Thr215Met	coding	Benign/Likely_benign
X	154031225	C	T	C154031225T	MECP2	NM_001110792.2(MECP2):c.639G>A:p.Ala213=	coding	Benign/Likely_benign
X	154031226	G	A	G154031226A	MECP2	NM_001110792.2(MECP2):c.638C>T:p.Ala213Val	coding	Benign/Likely_benign
X	154031230	T	A	T154031230A	MECP2	NM_001110792.2(MECP2):c.634A>T:p.Lys212Ter	coding	Pathogenic
X	154031236	T	A	T154031236A	MECP2	NM_001110792.2(MECP2):c.628A>T:p.Arg210Ter	coding	Pathogenic
X	154031238	G	A	G154031238A	MECP2	NM_001110792.2(MECP2):c.626C>T:p.Thr209Met	coding	Benign/Likely_benign
X	154031241	G	C	G154031241C	MECP2	NM_001110792.2(MECP2):c.623C>G:p.Thr208Ser	coding	Benign
X	154031243	G	A	G154031243A	MECP2	NM_001110792.2(MECP2):c.621C>T:p.Gly207=	coding	Benign
X	154031246	G	A	G154031246A	MECP2	NM_001110792.2(MECP2):c.618C>T:p.Ser206=	coding	Benign
X	154031255	G	A	G154031255A	MECP2	NM_001110792.2(MECP2):c.609C>T:p.Pro203=	coding	Benign
X	154031272	T	A	T154031272A	MECP2	NM_001110792.2(MECP2):c.592A>T:p.Arg198Ter	coding	Pathogenic
X	154031281	C	G	C154031281G	MECP2	NM_001110792.2(MECP2):c.583G>C:p.Gly195Arg	coding	Benign
X	154031290	T	A	T154031290A	MECP2	NM_001110792.2(MECP2):c.574A>T:p.Lys192Ter	coding	Pathogenic
X	154031299	T	A	T154031299A	MECP2	NM_001110792.2(MECP2):c.565A>T:p.Lys189Ter	coding	Pathogenic
X	154031301	G	C	G154031301C	MECP2	NM_001110792.2(MECP2):c.563C>G:p.Pro188Arg	coding	Benign/Likely_benign
X	154031305	T	A	T154031305A	MECP2	NM_001110792.2(MECP2):c.559A>T:p.Lys187Ter	coding	Pathogenic
X	154031313	G	A	G154031313A	MECP2	NM_001110792.2(MECP2):c.551C>T:p.Pro184Leu	coding	Benign
X	154031320	G	A	G154031320A	MECP2	NM_001110792.2(MECP2):c.544C>T:p.Gln182Ter	coding	Pathogenic
X	154031323	C	A	C154031323A	MECP2	NM_001110792.2(MECP2):c.541G>T:p.Glu181Ter	coding	Pathogenic
X	154031326	G	A	G154031326A	MECP2	NM_001110792.2(MECP2):c.538C>T:p.Arg180Ter	coding	Pathogenic
X	154031326	G	T	G154031326T	MECP2	NM_001110792.2(MECP2):c.538C>A:p.Arg180=	coding	Pathogenic
X	154031333	G	A	G154031333A	MECP2	NM_001110792.2(MECP2):c.531C>T:p.Pro177=	coding	Benign
X	154031344	T	C	T154031344C	MECP2	NM_001110792.2(MECP2):c.520A>G:p.Arg174Gly	coding	Pathogenic
X	154031354	C	T	C154031354T	MECP2	NM_001110792.2(MECP2):c.510G>A:p.Thr170=	coding	Benign/Likely_benign
X	154031355	G	A	G154031355A	MECP2	NM_001110792.2(MECP2):c.509C>T:p.Thr170Met	coding	Pathogenic/Likely_pathogenic
X	154031356	T	C	T154031356C	MECP2	NM_001110792.2(MECP2):c.508A>G:p.Thr170Ala	coding	Pathogenic
X	154031360	G	C	G154031360C	MECP2	NM_001110792.2(MECP2):c.504C>G:p.Asp168Glu	coding	Pathogenic
X	154031361	T	C	T154031361C	MECP2	NM_001110792.2(MECP2):c.503A>G:p.Asp168Gly	coding	Pathogenic
X	154031364	A	G	A154031364G	MECP2	NM_001110792.2(MECP2):c.500T>C:p.Phe167Ser	coding	Pathogenic
X	154031389	C	T	C154031389T	MECP2	NM_001110792.2(MECP2):c.475G>A:p.Asp159Asn	coding	Benign
X	154031397	T	C	T154031397C	MECP2	NM_001110792.2(MECP2):c.467A>G:p.Lys156Arg	coding	Benign
X	154031398	T	A	T154031398A	MECP2	NM_001110792.2(MECP2):c.466A>T:p.Lys156Ter	coding	Pathogenic
X	154031402	G	A	G154031402A	MECP2	NM_001110792.2(MECP2):c.462C>T:p.Phe154=	coding	Benign
X	154031405	G	C	G154031405C	MECP2	NM_001110792.2(MECP2):c.459C>G:p.Tyr153Ter	coding	Pathogenic
X	154031409	G	A	G154031409A	MECP2	NM_001110792.2(MECP2):c.455C>T:p.Ala152Val	coding	Pathogenic/Likely_pathogenic
X	154031415	A	T	A154031415T	MECP2	NM_001110792.2(MECP2):c.449T>A:p.Leu150Ter	coding	Pathogenic
X	154031418	T	C	T154031418C	MECP2	NM_001110792.2(MECP2):c.446A>G:p.Glu149Gly	coding	Pathogenic
X	154031425	T	C	T154031425C	MECP2	NM_001110792.2(MECP2):c.439A>G:p.Lys147Glu	coding	Pathogenic
X	154031427	G	A	G154031427A	MECP2	NM_001110792.2(MECP2):c.437C>T:p.Ser146Phe	coding	Pathogenic
X	154031427	G	C	G154031427C	MECP2	NM_001110792.2(MECP2):c.437C>G:p.Ser146Cys	coding	Pathogenic/Likely_pathogenic
X	154031430	C	T	C154031430T	MECP2	NM_001110792.2(MECP2):c.434G>A:p.Arg145His	coding	Pathogenic
X	154031446	G	A	G154031446A	MECP2	NM_001110792.2(MECP2):c.418C>T:p.Gln140Ter	coding	Pathogenic
X	154031448	G	A	G154031448A	MECP2	NM_001110792.2(MECP2):c.416C>T:p.Pro139Leu	coding	Pathogenic
X	154031452	T	A	T154031452A	MECP2	NM_004992.3(MECP2):c.378-2A>T	noncoding	Pathogenic
X	154031452	T	C	T154031452C	MECP2	NM_004992.3(MECP2):c.378-2A>G	noncoding	Pathogenic
X	154031452	T	G	T154031452G	MECP2	NM_004992.3(MECP2):c.378-2A>C	noncoding	Pathogenic
X	154031453	G	C	G154031453C	MECP2	NM_004992.3(MECP2):c.378-3C>G	noncoding	Pathogenic/Likely_pathogenic
X	154031470	G	C	G154031470C	MECP2	NM_004992.3(MECP2):c.378-20C>G	noncoding	Benign
X	154031520	G	C	G154031520C	MECP2	NM_004992.3(MECP2):c.378-70C>G	noncoding	Benign
X	154031524	G	A	G154031524A	MECP2	NM_004992.3(MECP2):c.378-74C>T	noncoding	Benign
X	154031559	T	C	T154031559C	MECP2	NM_004992.3(MECP2):c.378-109A>G	noncoding	Benign
X	154031691	G	A	G154031691A	MECP2	NM_004992.3(MECP2):c.378-241C>T	noncoding	Benign
X	154031941	A	G	A154031941G	MECP2	NM_004992.3(MECP2):c.377+266T>C	noncoding	Benign
X	154032112	C	T	C154032112T	MECP2	NM_004992.3(MECP2):c.377+95G>A	noncoding	Benign
X	154032177	C	T	C154032177T	MECP2	NM_004992.3(MECP2):c.377+30G>A	noncoding	Benign
X	154032179	T	C	T154032179C	MECP2	NM_004992.3(MECP2):c.377+28A>G	noncoding	Benign
X	154032185	G	C	G154032185C	MECP2	NM_004992.3(MECP2):c.377+22C>G	noncoding	Benign
X	154032206	C	A	C154032206A	MECP2	NM_004992.3(MECP2):c.377+1G>T	noncoding	Pathogenic
X	154032206	C	T	C154032206T	MECP2	NM_004992.3(MECP2):c.377+1G>A	noncoding	Pathogenic
X	154032220	C	T	C154032220T	MECP2	NM_001110792.2(MECP2):c.400G>A:p.Val134Met	coding	Pathogenic
X	154032259	T	C	T154032259C	MECP2	NM_001110792.2(MECP2):c.361A>G:p.Lys121Glu	coding	Pathogenic
X	154032267	C	T	C154032267T	MECP2	NM_001110792.2(MECP2):c.353G>A:p.Arg118Gln	coding	Pathogenic
X	154032268	G	A	G154032268A	MECP2	NM_001110792.2(MECP2):c.352C>T:p.Arg118Trp	coding	Pathogenic/Likely_pathogenic
X	154032273	C	T	C154032273T	MECP2	NM_001110792.2(MECP2):c.347G>A:p.Trp116Ter	coding	Pathogenic
X	154032282	G	A	G154032282A	MECP2	NM_001110792.2(MECP2):c.338C>T:p.Pro113Leu	coding	Pathogenic
X	154032282	G	C	G154032282C	MECP2	NM_001110792.2(MECP2):c.338C>G:p.Pro113Arg	coding	Pathogenic
X	154032282	G	T	G154032282T	MECP2	NM_001110792.2(MECP2):c.338C>A:p.Pro113His	coding	Pathogenic
X	154032283	G	A	G154032283A	MECP2	NM_001110792.2(MECP2):c.337C>T:p.Pro113Ser	coding	Pathogenic
X	154032286	G	C	G154032286C	MECP2	NM_001110792.2(MECP2):c.334C>G:p.Leu112Val	coding	Pathogenic
X	154032287	G	C	G154032287C	MECP2	NM_001110792.2(MECP2):c.333C>G:p.Thr111=	coding	Benign
X	154032305	G	A	G154032305A	MECP2	NM_001110792.2(MECP2):c.315C>T:p.Pro105=	coding	Benign
X	154032310	C	A	C154032310A	MECP2	NM_001110792.2(MECP2):c.310G>T:p.Gly104Ter	coding	Pathogenic
X	154032339	T	C	T154032339C	MECP2	NM_001110792.2(MECP2):c.281A>G:p.Lys94Arg	coding	Benign
X	154032340	T	A	T154032340A	MECP2	NM_001110792.2(MECP2):c.280A>T:p.Lys94Ter	coding	Pathogenic
X	154032368	C	T	C154032368T	MECP2	NM_001110792.2(MECP2):c.252G>A:p.Pro84=	coding	Benign
X	154032374	G	A	G154032374A	MECP2	NM_001110792.2(MECP2):c.246C>T:p.Ser82=	coding	Benign
X	154032381	G	C	G154032381C	MECP2	NM_001110792.2(MECP2):c.239C>G:p.Ser80Ter	coding	Pathogenic
X	154032390	G	A	G154032390A	MECP2	NM_001110792.2(MECP2):c.230C>T:p.Ser77Leu	coding	Pathogenic
X	154032390	G	C	G154032390C	MECP2	NM_001110792.2(MECP2):c.230C>G:p.Ser77Ter	coding	Pathogenic
X	154032390	G	T	G154032390T	MECP2	NM_001110792.2(MECP2):c.230C>A:p.Ser77Ter	coding	Pathogenic
X	154032438	G	C	G154032438C	MECP2	NM_001110792.2(MECP2):c.182C>G:p.Ser61Ter	coding	Pathogenic
X	154032438	G	T	G154032438T	MECP2	NM_001110792.2(MECP2):c.182C>A:p.Ser61Ter	coding	Pathogenic
X	154032512	T	C	T154032512C	MECP2	NM_001110792.2(MECP2):c.108A>G:p.Lys36=	coding	Benign
X	154032520	T	A	T154032520A	MECP2	NM_001110792.2(MECP2):c.100A>T:p.Lys34Ter	coding	Pathogenic
X	154032529	G	A	G154032529A	MECP2	NM_001110792.2(MECP2):c.91C>T:p.Gln31Ter	coding	Pathogenic
X	154032538	G	A	G154032538A	MECP2	NM_001110792.2(MECP2):c.82C>T:p.Gln28Ter	coding	Pathogenic
X	154032539	G	A	G154032539A	MECP2	NM_001110792.2(MECP2):c.81C>T:p.Asp27=	coding	Benign/Likely_benign
X	154032548	C	G	C154032548G	MECP2	NM_001110792.2(MECP2):c.72G>C:p.Lys24Asn	coding	Benign
X	154032556	C	A	C154032556A	MECP2	NM_001110792.2(MECP2):c.64G>T:p.Glu22Ter	coding	Pathogenic
X	154032559	T	C	T154032559C	MECP2	NM_004992.3(MECP2):c.27-2A>G	noncoding	Pathogenic
X	154032563	G	C	G154032563C	MECP2	NM_004992.3(MECP2):c.27-6C>G	noncoding	Pathogenic
X	154092182	A	T	A154092182T	MECP2	NM_004992.3(MECP2):c.26+2T>A	noncoding	Pathogenic
X	154092209	T	A	T154092209A	MECP2	NM_001110792.2(MECP2):c.62+5395A>T	coding	Pathogenic
X	154097602	A	C	A154097602C	MECP2	NM_004992.3(MECP2):c.-99+2T>G	noncoding	Pathogenic
X	154097603	C	T	C154097603T	MECP2	NM_001110792.2(MECP2):c.62+1G>A	noncoding	Pathogenic
X	154097618	G	A	G154097618A	MECP2	NM_001110792.2(MECP2):c.48C>T:p.Gly16=	coding	Pathogenic
X	154097665	T	A	T154097665A	MECP2	NM_001110792.2(MECP2):c.1A>T:p.Met1Leu	coding	Pathogenic
X	154153062	A	G	A154153062G	OPN1LW	NM_020061.6(OPN1LW):c.532A>G:p.Ile178Val	coding	Benign
X	154154602	T	C	T154154602C	OPN1LW	NM_020061.6(OPN1LW):c.607T>C:p.Cys203Arg	coding	Pathogenic
X	154154734	C	T	C154154734T	OPN1LW	NM_020061.6(OPN1LW):c.739C>T:p.Arg247Ter	coding	Pathogenic
X	154158844	G	A	G154158844A	OPN1LW	NM_020061.6(OPN1LW):c.1013G>A:p.Gly338Glu	coding	Pathogenic
X	154182566	A	C	A154182566C	OPN1MW	NM_000513.2(OPN1MW):c.-112A>C	noncoding	Pathogenic
X	154187939	C	A	C154187939A	OPN1MW	NM_000513.2(OPN1MW):c.282C>A:p.Asn94Lys	coding	Pathogenic
X	154190173	T	C	T154190173C	OPN1MW	NM_000513.2(OPN1MW):c.529T>C:p.Trp177Arg	coding	Pathogenic
X	154191716	T	C	T154191716C	OPN1MW	NM_000513.2(OPN1MW):c.607T>C:p.Cys203Arg	coding	Pathogenic
X	154195934	G	A	G154195934A	OPN1MW	NM_000513.2(OPN1MW):c.989G>A:p.Arg330Gln	coding	Pathogenic
X	154295882	C	T	C154295882T	TKTL1	NM_012253.4(TKTL1):c.23C>T:p.Ala8Val	coding	Benign
X	154348864	G	A	G154348864A	FLNA	NM_001110556.2(FLNA):c.7929C>T:p.Arg2643=	coding	Benign
X	154348897	C	T	C154348897T	FLNA	NM_001110556.2(FLNA):c.7896G>A:p.Trp2632Ter	coding	Pathogenic
X	154348971	G	A	G154348971A	FLNA	NM_001110556.2(FLNA):c.7822C>T:p.His2608Tyr	coding	Benign
X	154349037	C	G	C154349037G	FLNA	NM_001110556.2(FLNA):c.7757-1G>C	coding	Pathogenic
X	154349354	T	C	T154349354C	FLNA	NM_001110556.2(FLNA):c.7756+8A>G	noncoding	Benign/Likely_benign
X	154349405	G	A	G154349405A	FLNA	NM_001110556.2(FLNA):c.7713C>T:p.Tyr2571=	coding	Benign/Likely_benign
X	154349432	G	A	G154349432A	FLNA	NM_001110556.2(FLNA):c.7686C>T:p.Ala2562=	coding	Benign
X	154349522	T	C	T154349522C	FLNA	NM_001110556.2(FLNA):c.7596A>G:p.Ser2532=	coding	Benign
X	154349550	C	T	C154349550T	FLNA	NM_001110556.2(FLNA):c.7568G>A:p.Ser2523Asn	coding	Benign
X	154349560	G	A	G154349560A	FLNA	NM_001110556.2(FLNA):c.7558C>T:p.Arg2520Cys	coding	Benign
X	154349575	A	G	A154349575G	FLNA	NM_001110556.2(FLNA):c.7553-10T>C	noncoding	Benign/Likely_benign
X	154349583	T	C	T154349583C	FLNA	NM_001110556.2(FLNA):c.7553-18A>G	noncoding	Benign
X	154349695	G	A	G154349695A	FLNA	NM_001110556.2(FLNA):c.7506C>T:p.Gly2502=	coding	Benign/Likely_benign
X	154349767	C	T	C154349767T	FLNA	NM_001110556.2(FLNA):c.7434G>A:p.Glu2478=	coding	Benign
X	154349791	G	T	G154349791T	FLNA	NM_001110556.2(FLNA):c.7410C>A:p.Ser2470=	coding	Benign/Likely_benign
X	154349851	G	A	G154349851A	FLNA	NM_001110556.2(FLNA):c.7350C>T:p.Phe2450=	coding	Benign
X	154349931	A	G	A154349931G	FLNA	NM_001110556.2(FLNA):c.7334-64T>C	noncoding	Benign
X	154350097	G	A	G154350097A	FLNA	NM_001110556.2(FLNA):c.7267C>T:p.Pro2423Ser	coding	Benign/Likely_benign
X	154350109	G	A	G154350109A	FLNA	NM_001110556.2(FLNA):c.7255C>T:p.Arg2419Ter	coding	Pathogenic
X	154350140	G	A	G154350140A	FLNA	NM_001110556.2(FLNA):c.7224C>T:p.Gly2408=	coding	Benign
X	154350142	C	T	C154350142T	FLNA	NM_001110556.2(FLNA):c.7222G>A:p.Gly2408Ser	coding	Benign/Likely_benign
X	154350143	G	A	G154350143A	FLNA	NM_001110556.2(FLNA):c.7221C>T:p.Asn2407=	coding	Benign/Likely_benign
X	154350197	A	C	A154350197C	FLNA	NM_001110556.2(FLNA):c.7167T>G:p.Ala2389=	coding	Benign
X	154350377	G	C	G154350377C	FLNA	NM_001110556.2(FLNA):c.7157-170C>G	noncoding	Benign
X	154350912	G	A	G154350912A	FLNA	NM_001110556.2(FLNA):c.7153C>T:p.Gln2385Ter	coding	Pathogenic
X	154351080	A	G	A154351080G	FLNA	NM_001110556.2(FLNA):c.7024-39T>C	noncoding	Benign
X	154351571	G	A	G154351571A	FLNA	NM_001110556.2(FLNA):c.7023+10C>T	noncoding	Benign
X	154351583	G	A	G154351583A	FLNA	NM_001110556.2(FLNA):c.7021C>T:p.Gln2341Ter	coding	Pathogenic
X	154351668	G	A	G154351668A	FLNA	NM_001110556.2(FLNA):c.6936C>T:p.Asn2312=	coding	Benign/Likely_benign
X	154351689	G	C	G154351689C	FLNA	NM_001110556.2(FLNA):c.6915C>G:p.Tyr2305Ter	coding	Pathogenic
X	154351870	C	A	C154351870A	FLNA	NM_001110556.2(FLNA):c.6907+14G>T	noncoding	Benign
X	154351921	G	A	G154351921A	FLNA	NM_001110556.2(FLNA):c.6870C>T:p.Asp2290=	coding	Benign/Likely_benign
X	154352208	G	A	G154352208A	FLNA	NM_001110556.2(FLNA):c.6742C>T:p.Leu2248=	coding	Benign/Likely_benign
X	154352226	G	A	G154352226A	FLNA	NM_001110556.2(FLNA):c.6724C>T:p.Arg2242Ter	coding	Pathogenic
X	154352299	C	T	C154352299T	FLNA	NM_001110556.2(FLNA):c.6651G>A:p.Lys2217=	coding	Benign/Likely_benign
X	154352308	C	G	C154352308G	FLNA	NM_001110556.2(FLNA):c.6642G>C:p.Val2214=	coding	Benign
X	154352434	C	T	C154352434T	FLNA	NM_001110556.2(FLNA):c.6516G>A:p.Gln2172=	coding	Benign/Likely_benign
X	154352456	T	C	T154352456C	FLNA	NM_001110556.2(FLNA):c.6503-9A>G	noncoding	Benign/Likely_benign
X	154352600	G	C	G154352600C	FLNA	NM_001110556.2(FLNA):c.6455C>G:p.Ser2152Ter	coding	Pathogenic
X	154352848	C	T	C154352848T	FLNA	NM_001110556.2(FLNA):c.6303G>A:p.Thr2101=	coding	Benign
X	154352863	G	A	G154352863A	FLNA	NM_001110556.2(FLNA):c.6288C>T:p.Asp2096=	coding	Benign/Likely_benign
X	154352926	T	C	T154352926C	FLNA	NM_001110556.2(FLNA):c.6227-2A>G	noncoding	Pathogenic
X	154353179	C	T	C154353179T	FLNA	NM_001110556.2(FLNA):c.6048G>A:p.Thr2016=	coding	Benign/Likely_benign
X	154353214	G	C	G154353214C	FLNA	NM_001110556.2(FLNA):c.6023-10C>G	noncoding	Benign/Likely_benign
X	154353251	C	T	C154353251T	FLNA	NM_001110556.2(FLNA):c.6022+45G>A	noncoding	Benign
X	154353317	G	A	G154353317A	FLNA	NM_001110556.2(FLNA):c.6001C>T:p.Arg2001Trp	coding	Benign
X	154353346	G	A	G154353346A	FLNA	NM_001110556.2(FLNA):c.5972C>T:p.Ser1991Leu	coding	Benign/Likely_benign
X	154353360	A	G	A154353360G	FLNA	NM_001110556.2(FLNA):c.5958T>C:p.Thr1986=	coding	Benign/Likely_benign
X	154353564	A	G	A154353564G	FLNA	NM_001110556.2(FLNA):c.5850T>C:p.Ala1950=	coding	Benign
X	154353600	G	A	G154353600A	FLNA	NM_001110556.2(FLNA):c.5814C>T:p.Tyr1938=	coding	Benign
X	154353651	G	A	G154353651A	FLNA	NM_001110556.2(FLNA):c.5763C>T:p.Ser1921=	coding	Benign/Likely_benign
X	154353654	G	T	G154353654T	FLNA	NM_001110556.2(FLNA):c.5760C>A:p.Cys1920Ter	coding	Pathogenic
X	154353830	T	C	T154353830C	FLNA	NM_001110556.2(FLNA):c.5686+85A>G	noncoding	Benign
X	154353940	G	A	G154353940A	FLNA	NM_001110556.2(FLNA):c.5661C>T:p.Thr1887=	coding	Benign/Likely_benign
X	154353943	G	A	G154353943A	FLNA	NM_001110556.2(FLNA):c.5658C>T:p.Phe1886=	coding	Benign/Likely_benign
X	154353985	C	G	C154353985G	FLNA	NM_001110556.2(FLNA):c.5616G>C:p.Gly1872=	coding	Benign/Likely_benign
X	154354012	G	A	G154354012A	FLNA	NM_001110556.2(FLNA):c.5589C>T:p.Val1863=	coding	Benign/Likely_benign
X	154354335	G	A	G154354335A	FLNA	NM_001110556.2(FLNA):c.5417-44C>T	noncoding	Benign
X	154354478	C	T	C154354478T	FLNA	NM_001110556.2(FLNA):c.5319G>A:p.Pro1773=	coding	Benign
X	154354639	C	T	C154354639T	FLNA	NM_001110556.2(FLNA):c.5290G>A:p.Ala1764Thr	coding	Benign
X	154354651	G	A	G154354651A	FLNA	NM_001110556.2(FLNA):c.5278C>T:p.Gln1760Ter	coding	Pathogenic
X	154354825	C	T	C154354825T	FLNA	NM_001110556.2(FLNA):c.5217G>A:p.Thr1739=	coding	Pathogenic
X	154354849	C	T	C154354849T	FLNA	NM_001110556.2(FLNA):c.5193G>A:p.Val1731=	coding	Benign/Likely_benign
X	154354852	G	A	G154354852A	FLNA	NM_001110556.2(FLNA):c.5190C>T:p.His1730=	coding	Benign/Likely_benign
X	154354860	C	A	C154354860A	FLNA	NM_001110556.2(FLNA):c.5182G>T:p.Gly1728Cys	coding	Pathogenic
X	154354882	G	A	G154354882A	FLNA	NM_001110556.2(FLNA):c.5160C>T:p.Tyr1720=	coding	Benign
X	154354987	C	T	C154354987T	FLNA	NM_001110556.2(FLNA):c.5055G>A:p.Thr1685=	coding	Benign/Likely_benign
X	154357422	G	A	G154357422A	FLNA	NM_001110556.2(FLNA):c.4945+12C>T	noncoding	Benign
X	154357459	C	T	C154357459T	FLNA	NM_001110556.2(FLNA):c.4920G>A:p.Gly1640=	coding	Benign
X	154357471	G	A	G154357471A	FLNA	NM_001110556.2(FLNA):c.4908C>T:p.Ala1636=	coding	Benign/Likely_benign
X	154357513	G	A	G154357513A	FLNA	NM_001110556.2(FLNA):c.4866C>T:p.Tyr1622=	coding	Benign/Likely_benign
X	154357555	G	T	G154357555T	FLNA	NM_001110556.2(FLNA):c.4824C>A:p.Tyr1608Ter	coding	Pathogenic
X	154357797	G	C	G154357797C	FLNA	NM_001110556.2(FLNA):c.4756-174C>G	noncoding	Benign
X	154358217	C	G	C154358217G	FLNA	NM_001110556.2(FLNA):c.4737G>C:p.Leu1579=	coding	Benign/Likely_benign
X	154358228	C	T	C154358228T	FLNA	NM_001110556.2(FLNA):c.4726G>A:p.Gly1576Arg	coding	Pathogenic/Likely_pathogenic
X	154358285	T	C	T154358285C	FLNA	NM_001110556.2(FLNA):c.4669A>G:p.Thr1557Ala	coding	Benign
X	154358356	C	T	C154358356T	FLNA	NM_001110556.2(FLNA):c.4599-1G>A	coding	Pathogenic/Likely_pathogenic
X	154358437	C	G	C154358437G	FLNA	NM_001110556.2(FLNA):c.4598+8G>C	noncoding	Benign
X	154358492	C	G	C154358492G	FLNA	NM_001110556.2(FLNA):c.4551G>C:p.Gly1517=	coding	Benign/Likely_benign
X	154358500	G	A	G154358500A	FLNA	NM_001110556.2(FLNA):c.4543C>T:p.Arg1515Ter	coding	Pathogenic
X	154358510	A	G	A154358510G	FLNA	NM_001110556.2(FLNA):c.4533T>C:p.Tyr1511=	coding	Benign/Likely_benign
X	154358524	G	A	G154358524A	FLNA	NM_001110556.2(FLNA):c.4519C>T:p.Gln1507Ter	coding	Pathogenic
X	154358537	G	A	G154358537A	FLNA	NM_001110556.2(FLNA):c.4506C>T:p.Asn1502=	coding	Benign/Likely_benign
X	154358540	G	A	G154358540A	FLNA	NM_001110556.2(FLNA):c.4503C>T:p.Asp1501=	coding	Benign
X	154358544	A	G	A154358544G	FLNA	NM_001110556.2(FLNA):c.4499T>C:p.Val1500Ala	coding	Benign
X	154358549	G	A	G154358549A	FLNA	NM_001110556.2(FLNA):c.4494C>T:p.Asp1498=	coding	Benign
X	154359008	G	A	G154359008A	FLNA	NM_001110556.2(FLNA):c.4450C>T:p.Gln1484Ter	coding	Pathogenic
X	154359316	C	T	C154359316T	FLNA	NM_001110556.2(FLNA):c.4233G>A:p.Ser1411=	coding	Benign
X	154359582	G	A	G154359582A	FLNA	NM_001110556.2(FLNA):c.4044C>T:p.Pro1348=	coding	Benign
X	154359631	T	C	T154359631C	FLNA	NM_001110556.2(FLNA):c.3995A>G:p.Asp1332Gly	coding	Benign/Likely_benign
X	154359796	C	T	C154359796T	FLNA	NM_001110556.2(FLNA):c.3915G>A:p.Thr1305=	coding	Benign/Likely_benign
X	154359834	C	T	C154359834T	FLNA	NM_001110556.2(FLNA):c.3877G>A:p.Val1293Ile	coding	Benign/Likely_benign
X	154359835	G	A	G154359835A	FLNA	NM_001110556.2(FLNA):c.3876C>T:p.His1292=	coding	Benign/Likely_benign
X	154359839	G	A	G154359839A	FLNA	NM_001110556.2(FLNA):c.3872C>T:p.Pro1291Leu	coding	Benign
X	154359846	C	A	C154359846A	FLNA	NM_001110556.2(FLNA):c.3865G>T:p.Gly1289Ter	coding	Pathogenic
X	154359974	C	T	C154359974T	FLNA	NM_001110556.2(FLNA):c.3805+16G>A	noncoding	Benign/Likely_benign
X	154359975	G	A	G154359975A	FLNA	NM_001110556.2(FLNA):c.3805+15C>T	noncoding	Benign
X	154360020	G	A	G154360020A	FLNA	NM_001110556.2(FLNA):c.3775C>T:p.Gln1259Ter	coding	Pathogenic
X	154360039	C	T	C154360039T	FLNA	NM_001110556.2(FLNA):c.3756G>A:p.Ala1252=	coding	Benign/Likely_benign
X	154360053	G	A	G154360053A	FLNA	NM_001110556.2(FLNA):c.3742C>T:p.Gln1248Ter	coding	Pathogenic
X	154360105	G	A	G154360105A	FLNA	NM_001110556.2(FLNA):c.3690C>T:p.Thr1230=	coding	Benign
X	154360117	G	A	G154360117A	FLNA	NM_001110556.2(FLNA):c.3678C>T:p.Pro1226=	coding	Benign/Likely_benign
X	154360127	G	A	G154360127A	FLNA	NM_001110556.2(FLNA):c.3668C>T:p.Pro1223Leu	coding	Pathogenic
X	154360198	C	T	C154360198T	FLNA	NM_001110556.2(FLNA):c.3597G>A:p.Ser1199=	coding	Benign
X	154360199	G	A	G154360199A	FLNA	NM_001110556.2(FLNA):c.3596C>T:p.Ser1199Leu	coding	Pathogenic
X	154360233	C	T	C154360233T	FLNA	NM_001110556.2(FLNA):c.3562G>A:p.Ala1188Thr	coding	Pathogenic
X	154360238	G	A	G154360238A	FLNA	NM_001110556.2(FLNA):c.3557C>T:p.Ser1186Leu	coding	Pathogenic/Likely_pathogenic
X	154360243	G	T	G154360243T	FLNA	NM_001110556.2(FLNA):c.3552C>A:p.Asp1184Glu	coding	Pathogenic
X	154360266	C	A	C154360266A	FLNA	NM_001110556.2(FLNA):c.3529G>T:p.Glu1177Ter	coding	Pathogenic
X	154360273	G	A	G154360273A	FLNA	NM_001110556.2(FLNA):c.3522C>T:p.Thr1174=	coding	Benign/Likely_benign
X	154360291	G	A	G154360291A	FLNA	NM_001110556.2(FLNA):c.3504C>T:p.Pro1168=	coding	Benign
X	154360319	T	G	T154360319G	FLNA	NM_001110556.2(FLNA):c.3476A>C:p.Asp1159Ala	coding	Pathogenic
X	154360366	G	C	G154360366C	FLNA	NM_001110556.2(FLNA):c.3429C>G:p.Thr1143=	coding	Benign/Likely_benign
X	154360374	C	T	C154360374T	FLNA	NM_001110556.2(FLNA):c.3421G>A:p.Ala1141Thr	coding	Benign/Likely_benign
X	154360375	G	A	G154360375A	FLNA	NM_001110556.2(FLNA):c.3420C>T:p.Phe1140=	coding	Benign/Likely_benign
X	154360408	G	A	G154360408A	FLNA	NM_001110556.2(FLNA):c.3387C>T:p.Thr1129=	coding	Benign
X	154360408	G	C	G154360408C	FLNA	NM_001110556.2(FLNA):c.3387C>G:p.Thr1129=	coding	Benign
X	154360525	G	A	G154360525A	FLNA	NM_001110556.2(FLNA):c.3270C>T:p.Ile1090=	coding	Benign
X	154361294	C	T	C154361294T	FLNA	NM_001110556.2(FLNA):c.3207+14G>A	noncoding	Benign
X	154361480	G	A	G154361480A	FLNA	NM_001110556.2(FLNA):c.3035C>T:p.Ser1012Leu	coding	Benign/Likely_benign
X	154361769	C	T	C154361769T	FLNA	NM_001110556.2(FLNA):c.2845G>A:p.Val949Ile	coding	Benign/Likely_benign
X	154361771	T	C	T154361771C	FLNA	NM_001110556.2(FLNA):c.2843A>G:p.Asn948Ser	coding	Benign/Likely_benign
X	154362044	G	A	G154362044A	FLNA	NM_001110556.2(FLNA):c.2761C>T:p.Arg921Ter	coding	Pathogenic
X	154362334	T	C	T154362334C	FLNA	NM_001110556.2(FLNA):c.2566-2A>G	noncoding	Pathogenic
X	154362417	C	G	C154362417G	FLNA	NM_001110556.2(FLNA):c.2565+1G>C	noncoding	Pathogenic
X	154362417	C	T	C154362417T	FLNA	NM_001110556.2(FLNA):c.2565+1G>A	noncoding	Pathogenic
X	154362467	G	A	G154362467A	FLNA	NM_001110556.2(FLNA):c.2516C>T:p.Thr839Met	coding	Benign/Likely_benign
X	154362532	G	A	G154362532A	FLNA	NM_001110556.2(FLNA):c.2451C>T:p.Pro817=	coding	Benign
X	154362550	G	A	G154362550A	FLNA	NM_001110556.2(FLNA):c.2433C>T:p.Ala811=	coding	Benign/Likely_benign
X	154362580	T	C	T154362580C	FLNA	NM_001110556.2(FLNA):c.2405-2A>G	noncoding	Pathogenic
X	154362752	C	T	C154362752T	FLNA	NM_001110556.2(FLNA):c.2313G>A:p.Lys771=	coding	Benign/Likely_benign
X	154362755	G	T	G154362755T	FLNA	NM_001110556.2(FLNA):c.2310C>A:p.Asn770Lys	coding	Benign
X	154362980	A	G	A154362980G	FLNA	NM_001110556.2(FLNA):c.2281-196T>C	noncoding	Benign
X	154363108	T	G	T154363108G	FLNA	NM_001110556.2(FLNA):c.2281-324A>C	noncoding	Benign
X	154363125	T	G	T154363125G	FLNA	NM_001110556.2(FLNA):c.2281-341A>C	noncoding	Benign
X	154363633	A	T	A154363633T	FLNA	NM_001110556.2(FLNA):c.2280+389T>A	noncoding	Pathogenic
X	154363833	A	G	A154363833G	FLNA	NM_001110556.2(FLNA):c.2280+189T>C	noncoding	Benign
X	154364082	C	T	C154364082T	FLNA	NM_001110556.2(FLNA):c.2220G>A:p.Pro740=	coding	Benign/Likely_benign
X	154364097	G	A	G154364097A	FLNA	NM_001110556.2(FLNA):c.2205C>T:p.Tyr735=	coding	Benign/Likely_benign
X	154364263	A	T	A154364263T	FLNA	NM_001110556.2(FLNA):c.2132T>A:p.Val711Asp	coding	Pathogenic
X	154364292	G	A	G154364292A	FLNA	NM_001110556.2(FLNA):c.2103C>T:p.His701=	coding	Benign/Likely_benign
X	154364550	C	T	C154364550T	FLNA	NM_001110556.2(FLNA):c.1998G>A:p.Ala666=	coding	Benign
X	154364580	G	A	G154364580A	FLNA	NM_001110556.2(FLNA):c.1968C>T:p.Leu656=	coding	Benign
X	154364582	G	A	G154364582A	FLNA	NM_001110556.2(FLNA):c.1966C>T:p.Leu656Phe	coding	Pathogenic
X	154364610	G	A	G154364610A	FLNA	NM_001110556.2(FLNA):c.1938C>T:p.His646=	coding	Benign
X	154364625	G	A	G154364625A	FLNA	NM_001110556.2(FLNA):c.1923C>T:p.Gly641=	coding	Pathogenic
X	154364638	G	A	G154364638A	FLNA	NM_001110556.2(FLNA):c.1910C>T:p.Pro637Leu	coding	Pathogenic
X	154364638	G	T	G154364638T	FLNA	NM_001110556.2(FLNA):c.1910C>A:p.Pro637Gln	coding	Pathogenic
X	154364648	G	C	G154364648C	FLNA	NM_001110556.2(FLNA):c.1900C>G:p.Arg634Gly	coding	Benign/Likely_benign
X	154364667	G	A	G154364667A	FLNA	NM_001110556.2(FLNA):c.1881C>T:p.Gly627=	coding	Benign/Likely_benign
X	154364720	C	G	C154364720G	FLNA	NM_001110556.2(FLNA):c.1829-1G>C	coding	Pathogenic
X	154364721	T	C	T154364721C	FLNA	NM_001110556.2(FLNA):c.1829-2A>G	noncoding	Pathogenic
X	154364732	A	G	A154364732G	FLNA	NM_001110556.2(FLNA):c.1829-13T>C	noncoding	Benign
X	154364782	G	A	G154364782A	FLNA	NM_001110556.2(FLNA):c.1828+39C>T	noncoding	Benign
X	154364818	T	C	T154364818C	FLNA	NM_001110556.2(FLNA):c.1828+3A>G	noncoding	Benign/Likely_benign
X	154364825	C	T	C154364825T	FLNA	NM_001110556.2(FLNA):c.1824G>A:p.Thr608=	coding	Benign
X	154364843	G	A	G154364843A	FLNA	NM_001110556.2(FLNA):c.1806C>T:p.Ile602=	coding	Benign
X	154364882	G	A	G154364882A	FLNA	NM_001110556.2(FLNA):c.1767C>T:p.Gly589=	coding	Benign
X	154364900	G	A	G154364900A	FLNA	NM_001110556.2(FLNA):c.1749C>T:p.Gly583=	coding	Benign
X	154364933	G	A	G154364933A	FLNA	NM_001110556.2(FLNA):c.1716C>T:p.Thr572=	coding	Benign
X	154364956	G	A	G154364956A	FLNA	NM_001110556.2(FLNA):c.1693C>T:p.Pro565Ser	coding	Benign
X	154364967	C	T	C154364967T	FLNA	NM_001110556.2(FLNA):c.1692-10G>A	noncoding	Benign/Likely_benign
X	154365240	C	T	C154365240T	FLNA	NM_001110556.2(FLNA):c.1587G>A:p.Lys529=	coding	Benign/Likely_benign
X	154365245	C	T	C154365245T	FLNA	NM_001110556.2(FLNA):c.1582G>A:p.Val528Met	coding	Benign/Likely_benign
X	154365246	G	A	G154365246A	FLNA	NM_001110556.2(FLNA):c.1581C>T:p.Arg527=	coding	Benign
X	154365487	C	A	C154365487A	FLNA	NM_001110556.2(FLNA):c.1430-1G>T	coding	Pathogenic
X	154365941	G	A	G154365941A	FLNA	NM_001110556.2(FLNA):c.1429+83C>T	noncoding	Benign
X	154366143	C	T	C154366143T	FLNA	NM_001110556.2(FLNA):c.1310G>A:p.Arg437Gln	coding	Benign/Likely_benign
X	154366167	G	A	G154366167A	FLNA	NM_001110556.2(FLNA):c.1286C>T:p.Thr429Met	coding	Benign/Likely_benign
X	154366360	C	T	C154366360T	FLNA	NM_001110556.2(FLNA):c.1176G>A:p.Glu392=	coding	Benign/Likely_benign
X	154366377	G	A	G154366377A	FLNA	NM_001110556.2(FLNA):c.1159C>T:p.Gln387Ter	coding	Pathogenic
X	154366441	G	A	G154366441A	FLNA	NM_001110556.2(FLNA):c.1095C>T:p.Ile365=	coding	Benign
X	154366449	G	A	G154366449A	FLNA	NM_001110556.2(FLNA):c.1087C>T:p.Gln363Ter	coding	Pathogenic
X	154366489	G	A	G154366489A	FLNA	NM_001110556.2(FLNA):c.1066-19C>T	noncoding	Benign
X	154366562	C	T	C154366562T	FLNA	NM_001110556.2(FLNA):c.1065G>A:p.Lys355=	coding	Pathogenic
X	154366583	G	A	G154366583A	FLNA	NM_001110556.2(FLNA):c.1044C>T:p.Pro348=	coding	Benign
X	154366593	C	T	C154366593T	FLNA	NM_001110556.2(FLNA):c.1034G>A:p.Trp345Ter	coding	Pathogenic
X	154366597	C	T	C154366597T	FLNA	NM_001110556.2(FLNA):c.1030G>A:p.Val344Ile	coding	Benign/Likely_benign
X	154366747	G	A	G154366747A	FLNA	NM_001110556.2(FLNA):c.972C>T:p.Ala324=	coding	Benign
X	154366750	C	T	C154366750T	FLNA	NM_001110556.2(FLNA):c.969G>A:p.Pro323=	coding	Benign
X	154366761	C	T	C154366761T	FLNA	NM_001110556.2(FLNA):c.958G>A:p.Val320Met	coding	Benign
X	154366777	T	C	T154366777C	FLNA	NM_001110556.2(FLNA):c.942A>G:p.Gly314=	coding	Benign/Likely_benign
X	154366837	T	C	T154366837C	FLNA	NM_001110556.2(FLNA):c.882A>G:p.Thr294=	coding	Benign
X	154366857	G	A	G154366857A	FLNA	NM_001110556.2(FLNA):c.869-7C>T	noncoding	Benign
X	154366878	G	C	G154366878C	FLNA	NM_001110556.2(FLNA):c.869-28C>G	noncoding	Benign
X	154366891	G	A	G154366891A	FLNA	NM_001110556.2(FLNA):c.869-41C>T	noncoding	Benign
X	154367050	T	C	T154367050C	FLNA	NM_001110556.2(FLNA):c.869-200A>G	noncoding	Benign
X	154367403	C	T	C154367403T	FLNA	NM_001110556.2(FLNA):c.862G>A:p.Gly288Arg	coding	Pathogenic
X	154367404	G	A	G154367404A	FLNA	NM_001110556.2(FLNA):c.861C>T:p.Tyr287=	coding	Benign/Likely_benign
X	154367497	A	G	A154367497G	FLNA	NM_001110556.2(FLNA):c.768T>C:p.Ser256=	coding	Benign
X	154367505	C	T	C154367505T	FLNA	NM_001110556.2(FLNA):c.760G>A:p.Glu254Lys	coding	Pathogenic
X	154367506	G	A	G154367506A	FLNA	NM_001110556.2(FLNA):c.759C>T:p.Asp253=	coding	Benign/Likely_benign
X	154367512	G	A	G154367512A	FLNA	NM_001110556.2(FLNA):c.753C>T:p.Asn251=	coding	Benign/Likely_benign
X	154367533	G	A	G154367533A	FLNA	NM_001110556.2(FLNA):c.732C>T:p.Pro244=	coding	Benign/Likely_benign
X	154367639	A	G	A154367639G	FLNA	NM_001110556.2(FLNA):c.720+2T>C	noncoding	Pathogenic
X	154367685	G	A	G154367685A	FLNA	NM_001110556.2(FLNA):c.676C>T:p.Arg226Ter	coding	Pathogenic/Likely_pathogenic
X	154367698	G	A	G154367698A	FLNA	NM_001110556.2(FLNA):c.663C>T:p.Pro221=	coding	Benign
X	154367710	G	A	G154367710A	FLNA	NM_001110556.2(FLNA):c.651C>T:p.Asp217=	coding	Benign/Likely_benign
X	154367732	C	A	C154367732A	FLNA	NM_001110556.2(FLNA):c.629G>T:p.Cys210Phe	coding	Pathogenic
X	154367842	C	G	C154367842G	FLNA	NM_001110556.2(FLNA):c.622G>C:p.Gly208Arg	coding	Pathogenic
X	154367844	G	A	G154367844A	FLNA	NM_001110556.2(FLNA):c.620C>T:p.Pro207Leu	coding	Pathogenic
X	154367857	C	A	C154367857A	FLNA	NM_001110556.2(FLNA):c.607G>T:p.Asp203Tyr	coding	Pathogenic
X	154367920	G	A	G154367920A	FLNA	NM_001110556.2(FLNA):c.544C>T:p.Gln182Ter	coding	Pathogenic
X	154367921	C	T	C154367921T	FLNA	NM_001110556.2(FLNA):c.543G>A:p.Pro181=	coding	Benign/Likely_benign
X	154367943	C	T	C154367943T	FLNA	NM_001110556.2(FLNA):c.521G>A:p.Gly174Asp	coding	Pathogenic
X	154368041	G	A	G154368041A	FLNA	NM_001110556.2(FLNA):c.423C>T:p.Ile141=	coding	Benign
X	154368081	G	A	G154368081A	FLNA	NM_001110556.2(FLNA):c.383C>T:p.Ala128Val	coding	Pathogenic
X	154368109	C	T	C154368109T	FLNA	NM_001110556.2(FLNA):c.374-19G>A	noncoding	Benign
X	154368256	G	T	G154368256T	FLNA	NM_001110556.2(FLNA):c.374-166C>A	noncoding	Benign
X	154370812	A	G	A154370812G	FLNA	NM_001110556.2(FLNA):c.373+61T>C	noncoding	Benign
X	154370872	C	T	C154370872T	FLNA	NM_001110556.2(FLNA):c.373+1G>A	noncoding	Pathogenic
X	154371001	T	A	T154371001A	FLNA	NM_001110556.2(FLNA):c.245A>T:p.Glu82Val	coding	Pathogenic
X	154371130	G	C	G154371130C	FLNA	NM_001110556.2(FLNA):c.116C>G:p.Ala39Gly	coding	Pathogenic
X	154371164	T	C	T154371164C	FLNA	NM_001110556.2(FLNA):c.82A>G:p.Met28Val	coding	Pathogenic
X	154371266	G	C	G154371266C	FLNA	NM_001110556.2(FLNA):c.-21C>G	noncoding	Benign
X	154371409	A	G	A154371409G	FLNA	NM_001110556.2(FLNA):c.-116-48T>C	noncoding	Benign
X	154379485	A	G	A154379485G	EMD	NM_000117.2(EMD):c.1A>G:p.Met1Val	coding	Pathogenic
X	154379487	G	A	G154379487A	EMD	NM_000117.2(EMD):c.3G>A:p.Met1Ile	coding	Pathogenic
X	154379496	C	A	C154379496A	EMD	NM_000117.3(EMD):c.12C>A:p.Tyr4Ter	coding	Pathogenic
X	154379496	C	G	C154379496G	EMD	NM_000117.2(EMD):c.12C>G:p.Tyr4Ter	coding	Pathogenic
X	154379567	G	T	G154379567T	EMD	NM_000117.3(EMD):c.82+1G>T	coding	Pathogenic
X	154379677	C	G	C154379677G	EMD	NM_000117.3(EMD):c.83-13C>G	noncoding	Benign
X	154379688	A	C	A154379688C	EMD	NM_000117.3(EMD):c.83-2A>C	noncoding	Pathogenic
X	154379710	G	T	G154379710T	EMD	NM_000117.2(EMD):c.103G>T:p.Glu35Ter	coding	Pathogenic
X	154379730	C	A	C154379730A	EMD	NM_000117.2(EMD):c.123C>A:p.Tyr41Ter	coding	Pathogenic
X	154379737	C	T	C154379737T	EMD	NM_000117.2(EMD):c.130C>T:p.Gln44Ter	coding	Pathogenic
X	154379795	G	T	G154379795T	EMD	NM_000117.2(EMD):c.187+1G>T	coding	Pathogenic
X	154380232	A	G	A154380232G	EMD	NM_000117.3(EMD):c.266-2A>G	noncoding	Pathogenic
X	154380323	C	T	C154380323T	EMD	NM_000117.2(EMD):c.355C>T:p.Gln119Ter	coding	Pathogenic
X	154380364	C	T	C154380364T	EMD	NM_000117.3(EMD):c.396C>T:p.His132=	coding	Benign/Likely_benign
X	154380385	C	T	C154380385T	EMD	NM_000117.2(EMD):c.399+18C>T	noncoding	Benign
X	154380772	T	A	T154380772A	EMD	NM_000117.2(EMD):c.419T>A:p.Leu140Ter	coding	Pathogenic
X	154380783	G	T	G154380783T	EMD	NM_000117.2(EMD):c.430G>T:p.Glu144Ter	coding	Pathogenic
X	154380798	G	C	G154380798C	EMD	NM_000117.2(EMD):c.445G>C:p.Asp149His	coding	Benign
X	154380897	C	T	C154380897T	EMD	NM_000117.3(EMD):c.465C>T:p.Tyr155=	coding	Benign
X	154380916	C	T	C154380916T	EMD	NM_000117.2(EMD):c.484C>T:p.Gln162Ter	coding	Pathogenic
X	154380944	C	A	C154380944A	EMD	NM_000117.2(EMD):c.512C>A:p.Ser171Ter	coding	Pathogenic
X	154380979	C	A	C154380979A	EMD	NM_000117.2(EMD):c.547C>A:p.Pro183Thr	coding	Pathogenic
X	154380980	C	A	C154380980A	EMD	NM_000117.2(EMD):c.548C>A:p.Pro183His	coding	Pathogenic
X	154381032	G	A	G154381032A	EMD	NM_000117.2(EMD):c.600G>A:p.Trp200Ter	coding	Pathogenic/Likely_pathogenic
X	154381050	C	T	C154381050T	EMD	NM_000117.3(EMD):c.618C>T:p.Ile206=	coding	Benign
X	154381071	T	C	T154381071C	EMD	NM_000117.3(EMD):c.639T>C:p.Pro213=	coding	Benign
X	154398551	T	A	T154398551A	RPL10	NM_006013.4(RPL10):c.23+9T>A	noncoding	Benign
X	154399803	C	T	C154399803T	RPL10	NM_006013.4(RPL10):c.191C>T:p.Ala64Val	coding	Pathogenic
X	154400615	G	A	G154400615A	RPL10	NM_006013.4(RPL10):c.481G>A:p.Gly161Ser	coding	Pathogenic
X	154400814	G	A	G154400814A	RPL10	NM_006013.5(RPL10):c.605G>A:p.Ser202Asn	coding	Benign
X	154400842	C	T	C154400842T	RPL10	NM_006013.4(RPL10):c.633C>T:p.Ala211=	coding	Benign
X	154405018	C	G	C154405018G	DNASE1L1	NM_001303620.2(DNASE1L1):c.201G>C:p.Pro67=	coding	Benign
X	154411756	G	C	G154411756C	TAZ	NM_000116.5(TAZ):c.-88G>C	noncoding	Benign/Likely_benign
X	154412084	A	G	A154412084G	TAZ	NM_000116.5(TAZ):c.110-2A>G	coding	Pathogenic
X	154412129	C	G	C154412129G	TAZ	NM_000116.5(TAZ):c.153C>G:p.Tyr51Ter	coding	Pathogenic
X	154412130	G	T	G154412130T	TAZ	NM_000116.5(TAZ):c.154G>T:p.Glu52Ter	coding	Pathogenic
X	154412183	C	G	C154412183G	TAZ	NM_000116.5(TAZ):c.207C>G:p.His69Gln	coding	Pathogenic
X	154413206	G	A	G154413206A	TAZ	NM_000116.5(TAZ):c.239-1G>A	noncoding	Pathogenic
X	154413206	G	C	G154413206C	TAZ	NM_000116.5(TAZ):c.239-1G>C	noncoding	Pathogenic
X	154413248	C	A	C154413248A	TAZ	NM_000116.5(TAZ):c.280C>A:p.Arg94Ser	coding	Pathogenic
X	154413248	C	T	C154413248T	TAZ	NM_000116.5(TAZ):c.280C>T:p.Arg94Cys	coding	Pathogenic
X	154413249	G	A	G154413249A	TAZ	NM_000116.5(TAZ):c.281G>A:p.Arg94His	coding	Pathogenic
X	154413249	G	T	G154413249T	TAZ	NM_000116.5(TAZ):c.281G>T:p.Arg94Leu	coding	Pathogenic
X	154413362	G	A	G154413362A	TAZ	NM_000116.5(TAZ):c.284+110G>A	noncoding	Pathogenic
X	154413507	T	C	T154413507C	TAZ	NM_000116.5(TAZ):c.310T>C:p.Phe104Leu	coding	Pathogenic
X	154413549	T	C	T154413549C	TAZ	NM_000116.5(TAZ):c.352T>C:p.Cys118Arg	coding	Pathogenic
X	154413564	C	T	C154413564T	TAZ	NM_000116.5(TAZ):c.367C>T:p.Arg123Ter	coding	Pathogenic
X	154413567	G	T	G154413567T	TAZ	NM_000116.5(TAZ):c.370G>T:p.Gly124Ter	coding	Pathogenic
X	154414113	T	C	T154414113C	TAZ	NM_000116.5(TAZ):c.383T>C:p.Phe128Ser	coding	Benign/Likely_benign
X	154419541	A	G	A154419541G	TAZ	NM_000116.5(TAZ):c.461-2A>G	noncoding	Pathogenic
X	154419608	C	T	C154419608T	TAZ	NM_000116.5(TAZ):c.526C>T:p.His176Tyr	coding	Pathogenic
X	154419685	C	T	C154419685T	TAZ	NM_000116.5(TAZ):c.542-20C>T	noncoding	Benign
X	154419745	G	A	G154419745A	TAZ	NM_000116.5(TAZ):c.582G>A:p.Trp194Ter	coding	Pathogenic
X	154419746	G	T	G154419746T	TAZ	NM_000116.5(TAZ):c.583G>T:p.Gly195Ter	coding	Pathogenic
X	154420037	G	A	G154420037A	TAZ	NM_000116.5(TAZ):c.589G>A:p.Gly197Arg	coding	Pathogenic
X	154420082	C	T	C154420082T	TAZ	NM_000116.5(TAZ):c.634C>T:p.Leu212=	coding	Benign
X	154420087	G	A	G154420087A	TAZ	NM_000116.5(TAZ):c.639G>A:p.Trp213Ter	coding	Pathogenic
X	154420094	G	A	G154420094A	TAZ	NM_000116.5(TAZ):c.646G>A:p.Gly216Arg	coding	Pathogenic/Likely_pathogenic
X	154420108	C	T	C154420108T	TAZ	NM_000116.5(TAZ):c.646+14C>T	noncoding	Benign/Likely_benign
X	154420211	G	C	G154420211C	TAZ	NM_000116.5(TAZ):c.647-1G>C	noncoding	Pathogenic
X	154420240	G	A	G154420240A	TAZ	NM_000116.5(TAZ):c.675G>A:p.Pro225=	coding	Benign/Likely_benign
X	154420262	C	T	C154420262T	TAZ	NM_000116.5(TAZ):c.697C>T:p.Gln233Ter	coding	Pathogenic
X	154420265	G	A	G154420265A	TAZ	NM_000116.5(TAZ):c.699+1G>A	coding	Pathogenic
X	154420657	G	A	G154420657A	TAZ	NM_000116.5(TAZ):c.700-1G>A	noncoding	Pathogenic
X	154420676	G	A	G154420676A	TAZ	NM_000116.5(TAZ):c.718G>A:p.Gly240Arg	coding	Pathogenic
X	154420676	G	C	G154420676C	TAZ	NM_000116.5(TAZ):c.718G>C:p.Gly240Arg	coding	Pathogenic
X	154420998	G	A	G154420998A	TAZ	NM_000116.5(TAZ):c.873G>A:p.Gly291=	coding	Benign/Likely_benign
X	154421400	C	T	C154421400T	TAZ	NM_000116.5(TAZ):c.*396C>T	noncoding	Benign/Likely_benign
X	154421564	G	A	G154421564A	TAZ	NM_000116.5(TAZ):c.*560G>A	noncoding	Benign/Likely_benign
X	154428737	G	A	G154428737A	ATP6AP1	NM_001183.6(ATP6AP1):c.45G>A:p.Arg15=	coding	Benign
X	154429107	T	C	T154429107C	ATP6AP1	NM_001183.6(ATP6AP1):c.221T>C:p.Leu74Pro	coding	Pathogenic
X	154432333	T	C	T154432333C	ATP6AP1	NM_001183.6(ATP6AP1):c.431T>C:p.Leu144Pro	coding	Pathogenic
X	154432441	G	A	G154432441A	ATP6AP1	NM_001183.6(ATP6AP1):c.539G>A:p.Arg180His	coding	Benign
X	154432444	T	G	T154432444G	ATP6AP1	NM_001183.6(ATP6AP1):c.542T>G:p.Leu181Arg	coding	Pathogenic
X	154433685	T	A	T154433685A	ATP6AP1	NM_001183.6(ATP6AP1):c.649T>A:p.Tyr217Asn	coding	Pathogenic
X	154435142	C	T	C154435142T	ATP6AP1	NM_001183.6(ATP6AP1):c.927C>T:p.Leu309=	coding	Benign
X	154435153	A	G	A154435153G	ATP6AP1	NM_001183.6(ATP6AP1):c.938A>G:p.Tyr313Cys	coding	Pathogenic
X	154435338	G	A	G154435338A	ATP6AP1	NM_001183.6(ATP6AP1):c.1036G>A:p.Glu346Lys	coding	Pathogenic
X	154435464	A	C	A154435464C	ATP6AP1	NM_001183.6(ATP6AP1):c.1162A>C:p.Thr388Pro	coding	Benign
X	154435762	G	A	G154435762A	ATP6AP1	NM_001183.6(ATP6AP1):c.1284G>A:p.Met428Ile	coding	Pathogenic
X	154438762	C	T	C154438762T	GDI1	NM_001493.3(GDI1):c.154-3C>T	noncoding	Benign
X	154438819	C	T	C154438819T	GDI1	NM_001493.3(GDI1):c.208C>T:p.Arg70Ter	coding	Pathogenic
X	154438830	T	C	T154438830C	GDI1	NM_001493.3(GDI1):c.219T>C:p.Asn73=	coding	Benign
X	154439027	T	C	T154439027C	GDI1	NM_001493.3(GDI1):c.275T>C:p.Leu92Pro	coding	Pathogenic
X	154439076	C	T	C154439076T	GDI1	NM_001493.3(GDI1):c.324C>T:p.Ser108=	coding	Benign/Likely_benign
X	154440002	C	T	C154440002T	GDI1	NM_001493.3(GDI1):c.450C>T:p.Phe150=	coding	Benign
X	154440122	G	A	G154440122A	GDI1	NM_001493.3(GDI1):c.570G>A:p.Ala190=	coding	Benign
X	154440375	C	T	C154440375T	GDI1	NM_001493.3(GDI1):c.588C>T:p.Asp196=	coding	Benign
X	154441147	C	T	C154441147T	GDI1	NM_001493.3(GDI1):c.771C>T:p.Asp257=	coding	Benign
X	154441739	C	T	C154441739T	GDI1	NM_001493.3(GDI1):c.936C>T:p.Asn312=	coding	Benign
X	154442107	C	T	C154442107T	GDI1	NM_001493.3(GDI1):c.992-4C>T	noncoding	Benign
X	154442596	G	C	G154442596C	GDI1	NM_001493.3(GDI1):c.1268G>C:p.Arg423Pro	coding	Pathogenic
X	154442608	C	T	C154442608T	GDI1	NM_001493.3(GDI1):c.1280C>T:p.Thr427Met	coding	Benign
X	154450078	C	T	C154450078T	FAM50A	NM_004699.4(FAM50A):c.879C>T:p.Asp293=	coding	Benign
X	154460195	C	G	C154460195G	PLXNA3	NM_017514.5(PLXNA3):c.12C>G:p.Val4=	coding	Benign
X	154460254	G	A	G154460254A	PLXNA3	NM_017514.5(PLXNA3):c.71G>A:p.Arg24His	coding	Benign
X	154460449	G	A	G154460449A	PLXNA3	NM_017514.5(PLXNA3):c.266G>A:p.Arg89His	coding	Benign
X	154460503	G	A	G154460503A	PLXNA3	NM_017514.5(PLXNA3):c.320G>A:p.Arg107His	coding	Benign
X	154461248	G	A	G154461248A	PLXNA3	NM_017514.5(PLXNA3):c.744G>A:p.Thr248=	coding	Benign
X	154461290	C	T	C154461290T	PLXNA3	NM_017514.5(PLXNA3):c.786C>T:p.Ile262=	coding	Benign
X	154461329	C	T	C154461329T	PLXNA3	NM_017514.5(PLXNA3):c.825C>T:p.Tyr275=	coding	Benign
X	154461386	C	T	C154461386T	PLXNA3	NM_017514.5(PLXNA3):c.882C>T:p.Ser294=	coding	Benign
X	154461437	G	A	G154461437A	PLXNA3	NM_017514.5(PLXNA3):c.933G>A:p.Pro311=	coding	Benign
X	154462143	G	A	G154462143A	PLXNA3	NM_017514.5(PLXNA3):c.1150G>A:p.Gly384Ser	coding	Benign
X	154462248	G	A	G154462248A	PLXNA3	NM_017514.5(PLXNA3):c.1255G>A:p.Ala419Thr	coding	Benign
X	154462289	G	A	G154462289A	PLXNA3	NM_017514.5(PLXNA3):c.1296G>A:p.Thr432=	coding	Benign
X	154462291	G	A	G154462291A	PLXNA3	NM_017514.5(PLXNA3):c.1298G>A:p.Arg433His	coding	Benign
X	154463653	G	A	G154463653A	PLXNA3	NM_017514.5(PLXNA3):c.1510G>A:p.Gly504Arg	coding	Benign
X	154464031	G	A	G154464031A	PLXNA3	NM_017514.5(PLXNA3):c.1628G>A:p.Arg543Gln	coding	Benign
X	154464222	G	A	G154464222A	PLXNA3	NM_017514.5(PLXNA3):c.1737G>A:p.Ala579=	coding	Benign
X	154464420	G	A	G154464420A	PLXNA3	NM_017514.5(PLXNA3):c.1847G>A:p.Arg616Gln	coding	Benign
X	154464783	C	T	C154464783T	PLXNA3	NM_017514.5(PLXNA3):c.1958C>T:p.Pro653Leu	coding	Benign
X	154465014	G	A	G154465014A	PLXNA3	NM_017514.5(PLXNA3):c.2044-4G>A	noncoding	Benign
X	154465468	T	C	T154465468C	PLXNA3	NM_017514.5(PLXNA3):c.2289T>C:p.Phe763=	coding	Benign
X	154465649	G	A	G154465649A	PLXNA3	NM_017514.5(PLXNA3):c.2342-8G>A	noncoding	Benign
X	154465784	G	A	G154465784A	PLXNA3	NM_017514.5(PLXNA3):c.2469G>A:p.Pro823=	coding	Benign
X	154465991	G	C	G154465991C	PLXNA3	NM_017514.5(PLXNA3):c.2589G>C:p.Glu863Asp	coding	Benign
X	154467249	C	T	C154467249T	PLXNA3	NM_017514.5(PLXNA3):c.3219C>T:p.Asn1073=	coding	Benign
X	154467435	G	A	G154467435A	PLXNA3	NM_017514.5(PLXNA3):c.3405G>A:p.Val1135=	coding	Benign
X	154467565	T	G	T154467565G	PLXNA3	NM_017514.5(PLXNA3):c.3462T>G:p.Ala1154=	coding	Benign
X	154467616	G	A	G154467616A	PLXNA3	NM_017514.5(PLXNA3):c.3513G>A:p.Pro1171=	coding	Benign
X	154467904	C	G	C154467904G	PLXNA3	NM_017514.5(PLXNA3):c.3723C>G:p.Ala1241=	coding	Benign
X	154468340	G	A	G154468340A	PLXNA3	NM_017514.5(PLXNA3):c.4001G>A:p.Gly1334Glu	coding	Benign
X	154468416	C	T	C154468416T	PLXNA3	NM_017514.5(PLXNA3):c.4077C>T:p.Arg1359=	coding	Benign
X	154477966	A	G	A154477966G	LAGE3	NM_006014.4(LAGE3):c.410T>C:p.Phe137Ser	coding	Pathogenic
X	154477981	C	T	C154477981T	LAGE3	NM_006014.4(LAGE3):c.395G>A:p.Arg132Gln	coding	Benign
X	154477985	C	T	C154477985T	LAGE3	NM_006014.4(LAGE3):c.391G>A:p.Val131Met	coding	Benign
X	154478284	C	A	C154478284A	LAGE3	NM_006014.4(LAGE3):c.316G>T:p.Val106Phe	coding	Pathogenic
X	154478727	C	T	C154478727T	LAGE3	NM_006014.4(LAGE3):c.188+1G>A	noncoding	Pathogenic
X	154478737	G	A	G154478737A	LAGE3	NM_006014.4(LAGE3):c.179C>T:p.Pro60Leu	coding	Benign
X	154478741	G	T	G154478741T	LAGE3	NM_006014.4(LAGE3):c.175C>A:p.Arg59=	coding	Benign
X	154478825	C	T	C154478825T	LAGE3	NM_006014.4(LAGE3):c.91G>A:p.Ala31Thr	coding	Benign
X	154478870	C	T	C154478870T	LAGE3	NM_006014.4(LAGE3):c.46G>A:p.Asp16Asn	coding	Benign
X	154485912	C	T	C154485912T	UBL4A	NM_014235.5(UBL4A):c.222G>A:p.Leu74=	coding	Benign
X	154487846	G	A	G154487846A	SLC10A3	NM_019848.5(SLC10A3):c.1095C>T:p.Gly365=	coding	Benign
X	154506862	G	A	G154506862A	FAM3A	NM_021806.4(FAM3A):c.642C>T:p.Pro214=	coding	Benign
X	154507483	G	A	G154507483A	FAM3A	NM_021806.4(FAM3A):c.393C>T:p.Asn131=	coding	Benign
X	154532083	G	A	G154532083A	G6PD	NM_001360016.2(G6PD):c.1465C>T:p.Pro489Ser	coding	Pathogenic
X	154532214	G	A	G154532214A	G6PD	NM_001360016.2(G6PD):c.1431C>T:p.Pro477=	coding	Benign/Likely_benign
X	154532257	C	T	C154532257T	G6PD	NM_000402.4(G6PD):c.1478G>A:p.Arg493His	coding	Pathogenic
X	154532267	C	A	C154532267A	G6PD	NM_001360016.2(G6PD):c.1378G>T:p.Glu460Ter	coding	Pathogenic
X	154532269	C	A	C154532269A	G6PD	NM_000402.4(G6PD):c.1466G>T:p.Arg489Leu	coding	Pathogenic
X	154532269	C	G	C154532269G	G6PD	NM_000402.4(G6PD):c.1466G>C:p.Arg489Pro	coding	Pathogenic
X	154532390	G	A	G154532390A	G6PD	NM_001360016.2(G6PD):c.1360C>T:p.Arg454Cys	coding	Pathogenic
X	154532403	C	G	C154532403G	G6PD	NM_001360016.2(G6PD):c.1347G>C:p.Gln449His	coding	Pathogenic
X	154532411	C	T	C154532411T	G6PD	NM_000402.4(G6PD):c.1429G>A:p.Gly477Arg	coding	Pathogenic
X	154532432	G	A	G154532432A	G6PD	NM_001360016.2(G6PD):c.1318C>T:p.Leu440Phe	coding	Pathogenic
X	154532434	C	G	C154532434G	G6PD	NM_000402.4(G6PD):c.1406G>C:p.Arg469Pro	coding	Pathogenic/Likely_pathogenic
X	154532439	A	G	A154532439G	G6PD	NM_001360016.2(G6PD):c.1311T>C:p.Tyr437=	coding	Benign
X	154532662	C	T	C154532662T	G6PD	NM_001360016.2(G6PD):c.1192G>A:p.Glu398Lys	coding	Pathogenic
X	154532676	C	T	C154532676T	G6PD	NM_000402.4(G6PD):c.1268G>A:p.Arg423His	coding	Pathogenic
X	154532698	T	C	T154532698C	G6PD	NM_000402.4(G6PD):c.1246A>G:p.Lys416Glu	coding	Pathogenic
X	154532701	A	G	A154532701G	G6PD	NM_000402.4(G6PD):c.1243T>C:p.Cys415Arg	coding	Pathogenic
X	154532738	C	T	C154532738T	G6PD	NM_001360016.2(G6PD):c.1116G>A:p.Gln372=	coding	Benign/Likely_benign
X	154532766	T	A	T154532766A	G6PD	NM_001360016.2(G6PD):c.1088A>T:p.Asn363Ile	coding	Pathogenic
X	154532990	C	T	C154532990T	G6PD	NM_000402.4(G6PD):c.1093G>A:p.Ala365Thr	coding	Pathogenic
X	154533122	C	T	C154533122T	G6PD	NM_000402.4(G6PD):c.961G>A:p.Val321Met	coding	Pathogenic/Likely_pathogenic
X	154533592	T	A	T154533592A	G6PD	NM_001360016.2(G6PD):c.848A>T:p.Asp283Val	coding	Pathogenic
X	154534115	G	A	G154534115A	G6PD	NM_001360016.2(G6PD):c.690C>T:p.Ile230=	coding	Benign
X	154534125	C	A	C154534125A	G6PD	NM_001360016.2(G6PD):c.680G>T:p.Arg227Leu	coding	Pathogenic
X	154534177	G	A	G154534177A	G6PD	NM_001360016.2(G6PD):c.645-17C>T	noncoding	Benign
X	154534389	C	T	C154534389T	G6PD	NM_000402.4(G6PD):c.683G>A:p.Arg228His	coding	Pathogenic
X	154534440	T	A	T154534440A	G6PD	NM_000402.4(G6PD):c.632A>T:p.Asp211Val	coding	Pathogenic
X	154534463	G	A	G154534463A	G6PD	NM_001360016.2(G6PD):c.519C>T:p.Phe173=	coding	Benign
X	154534465	A	G	A154534465G	G6PD	NM_000402.4(G6PD):c.607T>C:p.Phe203Leu	coding	Pathogenic
X	154534489	T	C	T154534489C	G6PD	NM_000402.4(G6PD):c.583A>G:p.Asn195Asp	coding	Pathogenic/Likely_pathogenic
X	154534495	C	T	C154534495T	G6PD	NM_000402.4(G6PD):c.577G>A:p.Gly193Ser	coding	Pathogenic
X	154534525	C	A	C154534525A	G6PD	NM_001360016.2(G6PD):c.486-29G>T	noncoding	Benign
X	154535176	C	G	C154535176G	G6PD	NM_001360016.2(G6PD):c.477G>C:p.Met159Ile	coding	Benign
X	154535249	T	G	T154535249G	G6PD	NM_001360016.2(G6PD):c.404A>C:p.Asn135Thr	coding	Pathogenic
X	154535270	A	G	A154535270G	G6PD	NM_001360016.2(G6PD):c.383T>C:p.Leu128Pro	coding	Pathogenic
X	154535342	C	T	C154535342T	G6PD	NM_001360016.2(G6PD):c.311G>A:p.Arg104His	coding	Benign
X	154542419	A	G	A154542419G	G6PD;IKBKG	NM_001360016.2(G6PD):c.120+3617T>C	coding	Benign
X	154546058	A	G	A154546058G	G6PD	NM_001360016.2(G6PD):c.98T>C:p.Ile33Thr	coding	Pathogenic
X	154548089	G	C	G154548089C	IKBKG	NM_003639.4(IKBKG):c.-16G>C	coding	Pathogenic
X	154552171	G	A	G154552171A	IKBKG	NM_001099857.5(IKBKG):c.169G>A:p.Glu57Lys	coding	Benign/Likely_benign
X	154552186	C	T	C154552186T	IKBKG	NM_003639.4(IKBKG):c.184C>T:p.Arg62Ter	coding	Pathogenic
X	154556164	G	A	G154556164A	IKBKG	NM_003639.4(IKBKG):c.188-1G>A	noncoding	Pathogenic
X	154556216	T	C	T154556216C	IKBKG	NM_003639.4(IKBKG):c.239T>C:p.Leu80Pro	coding	Pathogenic
X	154556335	C	T	C154556335T	IKBKG	NM_001099857.5(IKBKG):c.358C>T:p.Gln120Ter	coding	Pathogenic
X	154558590	T	G	T154558590G	IKBKG	NM_003639.4(IKBKG):c.458T>G:p.Leu153Arg	coding	Pathogenic
X	154558634	C	T	C154558634T	IKBKG	NM_003639.4(IKBKG):c.502C>T:p.Gln168Ter	coding	Pathogenic
X	154558649	C	G	C154558649G	IKBKG	NM_003639.4(IKBKG):c.517C>G:p.Arg173Gly	coding	Pathogenic
X	154561686	A	G	A154561686G	IKBKG	NM_003639.4(IKBKG):c.672-2A>G	noncoding	Pathogenic
X	154561686	A	T	A154561686T	IKBKG	NM_003639.4(IKBKG):c.672-2A>T	noncoding	Pathogenic
X	154561722	C	T	C154561722T	IKBKG	NM_001099857.5(IKBKG):c.706C>T:p.Gln236Ter	coding	Pathogenic
X	154561739	C	G	C154561739G	IKBKG	NM_003639.4(IKBKG):c.723C>G:p.Tyr241Ter	coding	Pathogenic
X	154561782	C	T	C154561782T	IKBKG	NM_003639.4(IKBKG):c.766C>T:p.Arg256Ter	coding	Pathogenic
X	154561786	T	G	T154561786G	IKBKG	NM_003639.4(IKBKG):c.768+2T>G	noncoding	Pathogenic
X	154561789	G	A	G154561789A	IKBKG	NM_003639.4(IKBKG):c.768+5G>A	noncoding	Pathogenic
X	154562904	C	G	C154562904G	IKBKG	NM_003639.4(IKBKG):c.863C>G:p.Ala288Gly	coding	Pathogenic
X	154562909	C	T	C154562909T	IKBKG	NM_003639.4(IKBKG):c.868C>T:p.Gln290Ter	coding	Pathogenic
X	154563590	A	C	A154563590C	IKBKG	NM_003639.4(IKBKG):c.944A>C:p.Glu315Ala	coding	Pathogenic
X	154563602	G	A	G154563602A	IKBKG	NM_003639.4(IKBKG):c.956G>A:p.Arg319Gln	coding	Pathogenic
X	154564372	G	T	G154564372T	IKBKG	NM_003639.4(IKBKG):c.1171G>T:p.Glu391Ter	coding	Pathogenic
X	154564408	C	T	C154564408T	IKBKG	NM_003639.4(IKBKG):c.1207C>T:p.Gln403Ter	coding	Pathogenic
X	154564418	A	T	A154564418T	IKBKG	NM_003639.4(IKBKG):c.1217A>T:p.Asp406Val	coding	Pathogenic
X	154564420	A	G	A154564420G	IKBKG	NM_003639.4(IKBKG):c.1219A>G:p.Met407Val	coding	Pathogenic
X	154564450	T	C	T154564450C	IKBKG	NM_003639.4(IKBKG):c.1249T>C:p.Cys417Arg	coding	Pathogenic
X	154564451	G	T	G154564451T	IKBKG	NM_003639.4(IKBKG):c.1250G>T:p.Cys417Phe	coding	Pathogenic
X	154564459	T	C	T154564459C	IKBKG	NM_003639.4(IKBKG):c.1258T>C:p.Ter420Gln	coding	Pathogenic
X	154564460	A	G	A154564460G	IKBKG	NM_003639.4(IKBKG):c.1259A>G:p.Ter420Trp	coding	Pathogenic
X	154652360	C	G	C154652360G	CTAG2	NM_020994.5(CTAG2):c.541G>C:p.Gly181Arg	coding	Benign
X	154652556	C	A	C154652556A	CTAG2	NM_020994.5(CTAG2):c.345G>T:p.Pro115=	coding	Benign
X	154652606	G	C	G154652606C	CTAG2	NM_020994.5(CTAG2):c.295C>G:p.Pro99Ala	coding	Benign
X	154652621	T	C	T154652621C	CTAG2	NM_020994.5(CTAG2):c.280A>G:p.Met94Val	coding	Benign
X	154653251	C	G	C154653251G	CTAG2	NM_020994.5(CTAG2):c.265G>C:p.Glu89Gln	coding	Benign
X	154653499	C	T	C154653499T	CTAG2	NM_020994.5(CTAG2):c.17G>A:p.Arg6Gln	coding	Benign
X	154680220	C	G	C154680220G	GAB3	NM_001081573.3(GAB3):c.1559G>C:p.Ser520Thr	coding	Benign
X	154712469	G	A	G154712469A	GAB3	NM_001081573.3(GAB3):c.829C>T:p.Leu277=	coding	Benign
X	154762970	C	T	C154762970T	DKC1	NM_001363.5(DKC1):c.5C>T:p.Ala2Val	coding	Pathogenic
X	154763573	C	G	C154763573G	DKC1	NM_001363.5(DKC1):c.16+592C>G	noncoding	Pathogenic
X	154764911	C	T	C154764911T	DKC1	NM_001363.5(DKC1):c.29C>T:p.Pro10Leu	coding	Pathogenic
X	154765450	C	A	C154765450A	DKC1	NM_001363.5(DKC1):c.91C>A:p.Gln31Lys	coding	Pathogenic
X	154765450	C	G	C154765450G	DKC1	NM_001363.5(DKC1):c.91C>G:p.Gln31Glu	coding	Pathogenic
X	154765465	T	G	T154765465G	DKC1	NM_001363.5(DKC1):c.106T>G:p.Phe36Val	coding	Pathogenic
X	154765472	T	C	T154765472C	DKC1	NM_001363.5(DKC1):c.113T>C:p.Ile38Thr	coding	Pathogenic
X	154765474	A	G	A154765474G	DKC1	NM_001363.5(DKC1):c.115A>G:p.Lys39Glu	coding	Pathogenic
X	154765478	C	G	C154765478G	DKC1	NM_001363.5(DKC1):c.119C>G:p.Pro40Arg	coding	Pathogenic
X	154765480	G	A	G154765480A	DKC1	NM_001363.5(DKC1):c.121G>A:p.Glu41Lys	coding	Pathogenic
X	154765486	A	G	A154765486G	DKC1	NM_001363.5(DKC1):c.127A>G:p.Lys43Glu	coding	Pathogenic
X	154765505	C	T	C154765505T	DKC1	NM_001363.5(DKC1):c.146C>T:p.Thr49Met	coding	Pathogenic
X	154765929	G	C	G154765929C	DKC1	NM_001363.5(DKC1):c.194G>C:p.Arg65Thr	coding	Pathogenic
X	154765931	A	G	A154765931G	DKC1	NM_001363.5(DKC1):c.196A>G:p.Thr66Ala	coding	Pathogenic
X	154765935	C	T	C154765935T	DKC1	NM_001363.5(DKC1):c.200C>T:p.Thr67Ile	coding	Pathogenic
X	154765938	A	G	A154765938G	DKC1	NM_001363.5(DKC1):c.203A>G:p.His68Arg	coding	Pathogenic
X	154765939	C	A	C154765939A	DKC1	NM_001363.5(DKC1):c.204C>A:p.His68Gln	coding	Pathogenic
X	154766321	G	T	G154766321T	DKC1	NM_001363.5(DKC1):c.369G>T:p.Thr123=	coding	Benign/Likely_benign
X	154766367	G	A	G154766367A	DKC1	NM_001363.5(DKC1):c.415G>A:p.Ala139Thr	coding	Benign/Likely_benign
X	154767364	G	A	G154767364A	DKC1	NM_001363.5(DKC1):c.622G>A:p.Asp208Asn	coding	Benign
X	154769171	A	C	A154769171C	DKC1	NM_001363.5(DKC1):c.776A>C:p.His259Pro	coding	Benign
X	154769233	A	C	A154769233C	DKC1	NM_001363.5(DKC1):c.838A>C:p.Ser280Arg	coding	Benign
X	154769306	G	A	G154769306A	DKC1	NM_001363.5(DKC1):c.911G>A:p.Ser304Asn	coding	Pathogenic
X	154770784	A	G	A154770784G	DKC1	NM_001363.5(DKC1):c.941A>G:p.Lys314Arg	coding	Pathogenic
X	154770792	C	G	C154770792G	DKC1	NM_001363.5(DKC1):c.949C>G:p.Leu317Val	coding	Pathogenic
X	154770792	C	T	C154770792T	DKC1	NM_001363.5(DKC1):c.949C>T:p.Leu317Phe	coding	Pathogenic
X	154770804	C	G	C154770804G	DKC1	NM_001363.5(DKC1):c.961C>G:p.Leu321Val	coding	Pathogenic
X	154770808	G	A	G154770808A	DKC1	NM_001363.5(DKC1):c.965G>A:p.Arg322Gln	coding	Pathogenic
X	154773143	T	C	T154773143C	DKC1	NM_001363.5(DKC1):c.1049T>C:p.Met350Thr	coding	Pathogenic
X	154773144	G	A	G154773144A	DKC1	NM_001363.5(DKC1):c.1050G>A:p.Met350Ile	coding	Pathogenic
X	154773152	C	T	C154773152T	DKC1	NM_001363.5(DKC1):c.1058C>T:p.Ala353Val	coding	Pathogenic
X	154773163	A	G	A154773163G	DKC1	NM_001363.5(DKC1):c.1069A>G:p.Thr357Ala	coding	Pathogenic
X	154773169	G	A	G154773169A	DKC1	NM_001363.5(DKC1):c.1075G>A:p.Asp359Asn	coding	Pathogenic
X	154773227	G	A	G154773227A	DKC1	NM_001363.5(DKC1):c.1133G>A:p.Arg378Gln	coding	Pathogenic
X	154773244	C	T	C154773244T	DKC1	NM_001363.5(DKC1):c.1150C>T:p.Pro384Ser	coding	Pathogenic
X	154773245	C	T	C154773245T	DKC1	NM_001363.5(DKC1):c.1151C>T:p.Pro384Leu	coding	Pathogenic
X	154774602	G	A	G154774602A	DKC1	NM_001363.5(DKC1):c.1156G>A:p.Ala386Thr	coding	Pathogenic
X	154774639	T	C	T154774639C	DKC1	NM_001363.5(DKC1):c.1193T>C:p.Leu398Pro	coding	Pathogenic
X	154774650	G	A	G154774650A	DKC1	NM_001363.5(DKC1):c.1204G>A:p.Gly402Arg	coding	Pathogenic
X	154774651	G	A	G154774651A	DKC1	NM_001363.5(DKC1):c.1205G>A:p.Gly402Glu	coding	Pathogenic
X	154774672	C	T	C154774672T	DKC1	NM_001363.5(DKC1):c.1226C>T:p.Pro409Leu	coding	Pathogenic
X	154774706	G	A	G154774706A	DKC1	NM_001363.5(DKC1):c.1259+1G>A	coding	Pathogenic
X	154776193	C	G	C154776193G	DKC1	NM_001363.5(DKC1):c.1345C>G:p.Arg449Gly	coding	Pathogenic
X	154776279	G	A	G154776279A	DKC1	NM_001363.5(DKC1):c.1431G>A:p.Lys477=	coding	Benign
X	154776309	C	T	C154776309T	DKC1	NM_001363.5(DKC1):c.1461C>T:p.Ala487=	coding	Benign
X	154776873	G	A	G154776873A	DKC1	NM_001363.5(DKC1):c.*6G>A	noncoding	Benign
X	154792207	C	A	C154792207A	MPP1	NM_002436.4(MPP1):c.181G>T:p.Val61Phe	coding	Benign
X	154792289	C	T	C154792289T	MPP1	NM_002436.4(MPP1):c.103-4G>A	noncoding	Benign
X	154805262	G	A	G154805262A	MPP1	NM_002436.4(MPP1):c.102+10C>T	noncoding	Benign
X	154835925	C	T	C154835925T	F8	NM_000132.3(F8):c.*1672G>A	noncoding	Benign
X	154836181	C	A	C154836181A	F8	NM_000132.3(F8):c.*1416G>T	noncoding	Benign
X	154836383	C	T	C154836383T	F8	NM_000132.3(F8):c.*1214G>A	noncoding	Benign
X	154836596	G	A	G154836596A	F8	NM_000132.4(F8):c.*1001C>T	noncoding	Benign
X	154837568	G	A	G154837568A	F8	NM_000132.3(F8):c.*29C>T	noncoding	Benign
X	154837676	C	A	C154837676A	F8	NM_000132.3(F8):c.6977G>T:p.Arg2326Leu	coding	Pathogenic
X	154837676	C	T	C154837676T	F8	NM_000132.3(F8):c.6977G>A:p.Arg2326Gln	coding	Pathogenic/Likely_pathogenic
X	154837677	G	A	G154837677A	F8	NM_000132.3(F8):c.6976C>T:p.Arg2326Ter	coding	Pathogenic
X	154837685	C	T	C154837685T	F8	NM_000132.3(F8):c.6968G>A:p.Arg2323His	coding	Pathogenic
X	154837686	G	A	G154837686A	F8	NM_000132.3(F8):c.6967C>T:p.Arg2323Cys	coding	Pathogenic
X	154837697	G	A	G154837697A	F8	NM_000132.3(F8):c.6956C>T:p.Pro2319Leu	coding	Pathogenic
X	154837698	G	A	G154837698A	F8	NM_000132.3(F8):c.6955C>T:p.Pro2319Ser	coding	Pathogenic
X	154860464	A	G	A154860464G	F8	NM_000132.4(F8):c.6868T>C:p.Trp2290Arg	coding	Pathogenic
X	154860467	G	A	G154860467A	F8	NM_000132.3(F8):c.6865C>T:p.Gln2289Ter	coding	Pathogenic
X	154860483	G	A	G154860483A	F8	NM_000132.3(F8):c.6849C>T:p.Ser2283=	coding	Benign
X	154860538	T	C	T154860538C	F8	NM_000132.3(F8):c.6794A>G:p.Gln2265Arg	coding	Pathogenic
X	154860563	T	C	T154860563C	F8	NM_000132.3(F8):c.6769A>G:p.Met2257Val	coding	Benign
X	154860588	C	A	C154860588A	F8	NM_000132.3(F8):c.6744G>T:p.Trp2248Cys	coding	Pathogenic
X	154861728	C	T	C154861728T	F8	NM_000132.4(F8):c.6713G>A:p.Trp2238Ter	coding	Pathogenic
X	154861755	A	G	A154861755G	F8	NM_000132.3(F8):c.6686T>C:p.Leu2229Pro	coding	Pathogenic
X	154861756	G	A	G154861756A	F8	NM_000132.3(F8):c.6685C>T:p.Leu2229Phe	coding	Pathogenic
X	154861758	C	A	C154861758A	F8	NM_000132.3(F8):c.6683G>T:p.Arg2228Leu	coding	Pathogenic
X	154861758	C	T	C154861758T	F8	NM_000132.3(F8):c.6683G>A:p.Arg2228Gln	coding	Pathogenic
X	154861759	G	A	G154861759A	F8	NM_000132.3(F8):c.6682C>T:p.Arg2228Ter	coding	Pathogenic
X	154861759	G	C	G154861759C	F8	NM_000132.3(F8):c.6682C>G:p.Arg2228Gly	coding	Pathogenic
X	154861762	C	T	C154861762T	F8	NM_000132.4(F8):c.6679G>A:p.Ala2227Thr	coding	Pathogenic
X	154861803	G	A	G154861803A	F8	NM_000132.3(F8):c.6638C>T:p.Ser2213Phe	coding	Pathogenic
X	154861810	C	G	C154861810G	F8	NM_000132.3(F8):c.6631G>C:p.Ala2211Pro	coding	Pathogenic
X	154861819	G	C	G154861819C	F8	NM_000132.3(F8):c.6622C>G:p.Gln2208Glu	coding	Pathogenic
X	154863103	A	G	A154863103G	F8	NM_000132.3(F8):c.6554T>C:p.Leu2185Ser	coding	Pathogenic
X	154863110	T	C	T154863110C	F8	NM_000132.3(F8):c.6547A>G:p.Met2183Val	coding	Pathogenic
X	154863112	C	T	C154863112T	F8	NM_000132.3(F8):c.6545G>A:p.Arg2182His	coding	Pathogenic
X	154863113	G	A	G154863113A	F8	NM_000132.3(F8):c.6544C>T:p.Arg2182Cys	coding	Pathogenic
X	154863124	C	A	C154863124A	F8	NM_000132.3(F8):c.6533G>T:p.Arg2178Leu	coding	Pathogenic
X	154863125	G	A	G154863125A	F8	NM_000132.3(F8):c.6532C>T:p.Arg2178Cys	coding	Pathogenic
X	154863139	G	A	G154863139A	F8	NM_000132.3(F8):c.6518C>T:p.Thr2173Ile	coding	Pathogenic
X	154863142	G	T	G154863142T	F8	NM_000132.3(F8):c.6515C>A:p.Pro2172Gln	coding	Pathogenic
X	154863151	C	T	C154863151T	F8	NM_000132.3(F8):c.6506G>A:p.Arg2169His	coding	Pathogenic
X	154863161	G	A	G154863161A	F8	NM_000132.3(F8):c.6496C>T:p.Arg2166Ter	coding	Pathogenic
X	154863223	A	C	A154863223C	F8	NM_000132.3(F8):c.6434T>G:p.Phe2145Cys	coding	Pathogenic
X	154896093	G	T	G154896093T	F8	NM_000132.3(F8):c.6413C>A:p.Ser2138Tyr	coding	Pathogenic
X	154896102	C	G	C154896102G	F8	NM_000132.3(F8):c.6404G>C:p.Arg2135Pro	coding	Pathogenic
X	154896103	G	A	G154896103A	F8	NM_000132.3(F8):c.6403C>T:p.Arg2135Ter	coding	Pathogenic
X	154896135	T	C	T154896135C	F8	NM_000132.3(F8):c.6371A>G:p.Tyr2124Cys	coding	Pathogenic
X	154896146	A	C	A154896146C	F8	NM_000132.3(F8):c.6360T>G:p.Phe2120Leu	coding	Pathogenic
X	154896151	G	A	G154896151A	F8	NM_000132.4(F8):c.6355C>T:p.Gln2119Ter	coding	Pathogenic
X	154896187	C	T	C154896187T	F8	NM_000132.4(F8):c.6319G>A:p.Gly2107Ser	coding	Pathogenic
X	154896228	T	C	T154896228C	F8	NM_000132.3(F8):c.6278A>G:p.Asp2093Gly	coding	Pathogenic
X	154899876	G	A	G154899876A	F8	NM_000132.3(F8):c.6263C>T:p.Ser2088Phe	coding	Pathogenic
X	154899946	A	G	A154899946G	F8	NM_000132.3(F8):c.6193T>C:p.Trp2065Arg	coding	Pathogenic
X	154902053	T	C	T154902053C	F8	NM_000132.3(F8):c.6113A>G:p.Asn2038Ser	coding	Pathogenic
X	154902062	A	G	A154902062G	F8	NM_000132.3(F8):c.6104T>C:p.Val2035Ala	coding	Pathogenic
X	154902063	C	T	C154902063T	F8	NM_000132.3(F8):c.6103G>A:p.Val2035Met	coding	Pathogenic
X	154902077	C	T	C154902077T	F8	NM_000132.3(F8):c.6089G>A:p.Ser2030Asn	coding	Pathogenic/Likely_pathogenic
X	154902084	C	T	C154902084T	F8	NM_000132.3(F8):c.6082G>A:p.Gly2028Arg	coding	Pathogenic
X	154902120	G	A	G154902120A	F8	NM_000132.3(F8):c.6046C>T:p.Arg2016Trp	coding	Pathogenic
X	154902150	C	A	C154902150A	F8	NM_000132.3(F8):c.6016G>T:p.Glu2006Ter	coding	Pathogenic
X	154902167	C	A	C154902167A	F8	NM_000132.3(F8):c.5999G>T:p.Gly2000Val	coding	Pathogenic
X	154903950	C	T	C154903950T	F8	NM_000132.3(F8):c.5954G>A:p.Arg1985Gln	coding	Pathogenic
X	154903951	G	A	G154903951A	F8	NM_000132.3(F8):c.5953C>T:p.Arg1985Ter	coding	Pathogenic
X	154903966	G	A	G154903966A	F8	NM_000132.3(F8):c.5938C>T:p.His1980Tyr	coding	Pathogenic
X	154903968	C	A	C154903968A	F8	NM_000132.3(F8):c.5936G>T:p.Gly1979Val	coding	Pathogenic
X	154903986	T	A	T154903986A	F8	NM_000132.3(F8):c.5918A>T:p.His1973Leu	coding	Pathogenic
X	154904004	C	T	C154904004T	F8	NM_000132.3(F8):c.5900G>A:p.Gly1967Asp	coding	Pathogenic
X	154904022	C	T	C154904022T	F8	NM_000132.3(F8):c.5882G>A:p.Trp1961Ter	coding	Pathogenic
X	154904025	C	A	C154904025A	F8	NM_000132.3(F8):c.5879G>T:p.Arg1960Leu	coding	Pathogenic
X	154904025	C	T	C154904025T	F8	NM_000132.3(F8):c.5879G>A:p.Arg1960Gln	coding	Pathogenic
X	154904026	G	A	G154904026A	F8	NM_000132.3(F8):c.5878C>T:p.Arg1960Ter	coding	Pathogenic
X	154904082	T	C	T154904082C	F8	NM_000132.3(F8):c.5822A>G:p.Asn1941Ser	coding	Pathogenic
X	154904083	T	C	T154904083C	F8	NM_000132.3(F8):c.5821A>G:p.Asn1941Asp	coding	Pathogenic
X	154904401	C	T	C154904401T	F8	NM_000132.3(F8):c.5710G>A:p.Glu1904Lys	coding	Pathogenic
X	154904434	G	A	G154904434A	F8	NM_000132.3(F8):c.5677C>T:p.Gln1893Ter	coding	Pathogenic
X	154904493	G	C	G154904493C	F8	NM_000132.3(F8):c.5618C>G:p.Pro1873Arg	coding	Pathogenic
X	154904506	C	T	C154904506T	F8	NM_000132.3(F8):c.5605G>A:p.Gly1869Ser	coding	Pathogenic
X	154904511	T	C	T154904511C	F8	NM_000132.3(F8):c.5600A>G:p.His1867Arg	coding	Pathogenic
X	154904518	C	A	C154904518A	F8	NM_000132.3(F8):c.5593G>T:p.Asp1865Tyr	coding	Pathogenic
X	154904518	C	T	C154904518T	F8	NM_000132.3(F8):c.5593G>A:p.Asp1865Asn	coding	Pathogenic
X	154904526	T	C	T154904526C	F8	NM_000132.4(F8):c.5587-2A>G	noncoding	Pathogenic
X	154904839	G	A	G154904839A	F8	NM_000132.3(F8):c.5558C>T:p.Ala1853Val	coding	Pathogenic
X	154904864	T	G	T154904864G	F8	NM_000132.3(F8):c.5533A>C:p.Thr1845Pro	coding	Pathogenic
X	154904871	C	T	C154904871T	F8	NM_000132.3(F8):c.5526G>A:p.Met1842Ile	coding	Pathogenic
X	154904904	G	C	G154904904C	F8	NM_000132.3(F8):c.5493C>G:p.Thr1831=	coding	Benign
X	154904918	T	A	T154904918A	F8	NM_000132.3(F8):c.5479A>T:p.Lys1827Ter	coding	Pathogenic
X	154904954	G	A	G154904954A	F8	NM_000132.3(F8):c.5443C>T:p.Gln1815Ter	coding	Pathogenic
X	154904967	A	C	A154904967C	F8	NM_000132.3(F8):c.5430T>G:p.Ser1810=	coding	Benign
X	154904989	G	T	G154904989T	F8	NM_000132.3(F8):c.5408C>A:p.Ser1803Tyr	coding	Pathogenic
X	154904998	C	T	C154904998T	F8	NM_000132.3(F8):c.5399G>A:p.Arg1800His	coding	Pathogenic
X	154904999	G	A	G154904999A	F8	NM_000132.3(F8):c.5398C>T:p.Arg1800Cys	coding	Pathogenic
X	154904999	G	C	G154904999C	F8	NM_000132.3(F8):c.5398C>G:p.Arg1800Gly	coding	Pathogenic
X	154906421	A	G	A154906421G	F8	NM_000132.3(F8):c.5372T>C:p.Met1791Thr	coding	Pathogenic
X	154906457	C	T	C154906457T	F8	NM_000132.3(F8):c.5336G>A:p.Gly1779Glu	coding	Pathogenic
X	154906468	C	G	C154906468G	F8	NM_000132.3(F8):c.5325G>C:p.Leu1775Phe	coding	Pathogenic
X	154906470	A	C	A154906470C	F8	NM_000132.3(F8):c.5323T>G:p.Leu1775Val	coding	Pathogenic
X	154906488	C	T	C154906488T	F8	NM_000132.3(F8):c.5305G>A:p.Gly1769Arg	coding	Pathogenic
X	154906492	G	T	G154906492T	F8	NM_000132.3(F8):c.5301C>A:p.Tyr1767Ter	coding	Pathogenic
X	154928604	C	T	C154928604T	F8	NM_000132.3(F8):c.5186G>A:p.Gly1729Glu	coding	Pathogenic
X	154928607	T	C	T154928607C	F8	NM_000132.3(F8):c.5183A>G:p.Tyr1728Cys	coding	Pathogenic
X	154928623	C	T	C154928623T	F8	NM_000132.3(F8):c.5167G>A:p.Glu1723Lys	coding	Pathogenic
X	154928647	G	A	G154928647A	F8	NM_000132.3(F8):c.5143C>T:p.Arg1715Ter	coding	Pathogenic
X	154928647	G	C	G154928647C	F8	NM_000132.3(F8):c.5143C>G:p.Arg1715Gly	coding	Pathogenic
X	154928667	C	T	C154928667T	F8	NM_000132.3(F8):c.5123G>A:p.Arg1708His	coding	Pathogenic
X	154928668	G	A	G154928668A	F8	NM_000132.3(F8):c.5122C>T:p.Arg1708Cys	coding	Pathogenic
X	154928677	G	A	G154928677A	F8	NM_000132.3(F8):c.5113C>T:p.Gln1705Ter	coding	Pathogenic
X	154928694	T	A	T154928694A	F8	NM_000132.3(F8):c.5096A>T:p.Tyr1699Phe	coding	Pathogenic
X	154928920	C	A	C154928920A	F8	NM_000132.3(F8):c.4870G>T:p.Glu1624Ter	coding	Pathogenic
X	154929290	C	T	C154929290T	F8	NM_000132.3(F8):c.4500G>A:p.Pro1500=	coding	Benign
X	154929317	G	T	G154929317T	F8	NM_000132.3(F8):c.4473C>A:p.Tyr1491Ter	coding	Pathogenic
X	154929323	G	C	G154929323C	F8	NM_000132.4(F8):c.4467C>G:p.Val1489=	coding	Benign
X	154929748	T	A	T154929748A	F8	NM_000132.3(F8):c.4042A>T:p.Lys1348Ter	coding	Pathogenic
X	154929926	T	G	T154929926G	F8	NM_000132.3(F8):c.3864A>C:p.Ser1288=	coding	Benign
X	154930010	G	C	G154930010C	F8	NM_000132.3(F8):c.3780C>G:p.Asp1260Glu	coding	Benign
X	154930169	G	A	G154930169A	F8	NM_000132.3(F8):c.3621C>T:p.His1207=	coding	Benign
X	154930554	C	T	C154930554T	F8	NM_000132.4(F8):c.3236G>A:p.Arg1079Lys	coding	Benign
X	154930796	A	C	A154930796C	F8	NM_000132.3(F8):c.2994T>G:p.His998Gln	coding	Benign/Likely_benign
X	154931337	G	A	G154931337A	F8	NM_000132.3(F8):c.2453C>T:p.Thr818Ile	coding	Benign
X	154931407	T	A	T154931407A	F8	NM_000132.3(F8):c.2383A>T:p.Arg795Ter	coding	Pathogenic
X	154931575	C	T	C154931575T	F8	NM_000132.3(F8):c.2215G>A:p.Glu739Lys	coding	Pathogenic
X	154931623	C	T	C154931623T	F8	NM_000132.3(F8):c.2167G>A:p.Ala723Thr	coding	Pathogenic
X	154931640	C	T	C154931640T	F8	NM_000132.3(F8):c.2150G>A:p.Arg717Gln	coding	Pathogenic
X	154931641	G	A	G154931641A	F8	NM_000132.3(F8):c.2149C>T:p.Arg717Trp	coding	Pathogenic/Likely_pathogenic
X	154947767	C	A	C154947767A	F8	NM_000132.3(F8):c.2044G>T:p.Val682Phe	coding	Pathogenic
X	154947768	C	G	C154947768G	F8	NM_000132.3(F8):c.2043G>C:p.Met681Ile	coding	Pathogenic
X	154947782	A	G	A154947782G	F8	NM_000132.3(F8):c.2029T>C:p.Phe677Leu	coding	Pathogenic
X	154947823	G	A	G154947823A	F8	NM_000132.3(F8):c.1988C>T:p.Ala663Val	coding	Pathogenic
X	154947846	G	C	G154947846C	F8	NM_000132.3(F8):c.1965C>G:p.Tyr655Ter	coding	Pathogenic
X	154947853	A	G	A154947853G	F8	NM_000132.3(F8):c.1958T>C:p.Val653Ala	coding	Pathogenic
X	154947854	C	T	C154947854T	F8	NM_000132.3(F8):c.1957G>A:p.Val653Met	coding	Pathogenic
X	154953903	T	C	T154953903C	F8	NM_000132.3(F8):c.1892A>G:p.Asn631Ser	coding	Pathogenic
X	154953929	A	G	A154953929G	F8	NM_000132.3(F8):c.1866T>C:p.Leu622=	coding	Benign/Likely_benign
X	154953961	G	A	G154953961A	F8	NM_000132.3(F8):c.1834C>T:p.Arg612Cys	coding	Pathogenic
X	154953981	T	G	T154953981G	F8	NM_000132.3(F8):c.1814A>C:p.Tyr605Ser	coding	Pathogenic
X	154953983	C	G	C154953983G	F8	NM_000132.3(F8):c.1812G>C:p.Trp604Cys	coding	Pathogenic
X	154953983	C	T	C154953983T	F8	NM_000132.4(F8):c.1812G>A:p.Trp604Ter	coding	Pathogenic
X	154953987	C	A	C154953987A	F8	NM_000132.3(F8):c.1808G>T:p.Ser603Ile	coding	Pathogenic
X	154953991	G	A	G154953991A	F8	NM_000132.3(F8):c.1804C>T:p.Arg602Ter	coding	Pathogenic
X	154953991	G	C	G154953991C	F8	NM_000132.3(F8):c.1804C>G:p.Arg602Gly	coding	Pathogenic/Likely_pathogenic
X	154954011	A	G	A154954011G	F8	NM_000132.4(F8):c.1784T>C:p.Phe595Ser	coding	Pathogenic
X	154954041	A	G	A154954041G	F8	NM_000132.3(F8):c.1754T>C:p.Ile585Thr	coding	Pathogenic
X	154956959	G	T	G154956959T	F8	NM_000132.3(F8):c.1750C>A:p.Gln584Lys	coding	Pathogenic
X	154956979	G	A	G154956979A	F8	NM_000132.3(F8):c.1730C>T:p.Ser577Phe	coding	Pathogenic
X	154956980	A	G	A154956980G	F8	NM_000132.3(F8):c.1729T>C:p.Ser577Pro	coding	Pathogenic
X	154956983	C	A	C154956983A	F8	NM_000132.3(F8):c.1726G>T:p.Glu576Ter	coding	Pathogenic
X	154957027	T	C	T154957027C	F8	NM_000132.3(F8):c.1682A>G:p.Asp561Gly	coding	Pathogenic
X	154957049	T	C	T154957049C	F8	NM_000132.3(F8):c.1660A>G:p.Ser554Gly	coding	Pathogenic/Likely_pathogenic
X	154957060	C	T	C154957060T	F8	NM_000132.3(F8):c.1649G>A:p.Arg550His	coding	Pathogenic
X	154957061	G	A	G154957061A	F8	NM_000132.3(F8):c.1648C>T:p.Arg550Cys	coding	Pathogenic
X	154957073	G	A	G154957073A	F8	NM_000132.3(F8):c.1636C>T:p.Arg546Trp	coding	Pathogenic
X	154957079	C	T	C154957079T	F8	NM_000132.3(F8):c.1630G>A:p.Asp544Asn	coding	Pathogenic
X	154957088	T	A	T154957088A	F8	NM_000132.3(F8):c.1621A>T:p.Thr541Ser	coding	Pathogenic
X	154957120	T	C	T154957120C	F8	NM_000132.3(F8):c.1589A>G:p.Tyr530Cys	coding	Pathogenic
X	154957140	C	A	C154957140A	F8	NM_000132.3(F8):c.1569G>T:p.Leu523=	coding	Pathogenic
X	154961104	C	T	C154961104T	F8	NM_000132.3(F8):c.1508G>A:p.Arg503His	coding	Benign/Likely_benign
X	154961120	C	T	C154961120T	F8	NM_000132.3(F8):c.1492G>A:p.Gly498Arg	coding	Pathogenic
X	154961131	A	G	A154961131G	F8	NM_000132.3(F8):c.1481T>C:p.Ile494Thr	coding	Pathogenic
X	154961190	A	G	A154961190G	F8	NM_000132.3(F8):c.1444-22T>C	noncoding	Benign
X	154965952	A	C	A154965952C	F8	NM_000132.4(F8):c.1443+18T>G	noncoding	Benign
X	154965995	T	C	T154965995C	F8	NM_000132.3(F8):c.1418A>G:p.Tyr473Cys	coding	Pathogenic
X	154965996	A	G	A154965996G	F8	NM_000132.3(F8):c.1417T>C:p.Tyr473His	coding	Pathogenic
X	154966049	A	C	A154966049C	F8	NM_000132.3(F8):c.1364T>G:p.Phe455Cys	coding	Pathogenic
X	154966063	G	T	G154966063T	F8	NM_000132.3(F8):c.1350C>A:p.Tyr450Ter	coding	Pathogenic
X	154966065	A	T	A154966065T	F8	NM_000132.3(F8):c.1348T>A:p.Tyr450Asn	coding	Pathogenic
X	154966077	G	A	G154966077A	F8	NM_000132.3(F8):c.1336C>T:p.Arg446Ter	coding	Pathogenic
X	154966082	T	C	T154966082C	F8	NM_000132.3(F8):c.1331A>G:p.Lys444Arg	coding	Pathogenic
X	154966120	C	A	C154966120A	F8	NM_000132.3(F8):c.1293G>T:p.Leu431Phe	coding	Pathogenic
X	154966146	A	G	A154966146G	F8	NM_000132.3(F8):c.1272-5T>C	noncoding	Benign
X	154966425	C	T	C154966425T	F8	NM_000132.3(F8):c.1271+1G>A	noncoding	Pathogenic
X	154966471	T	C	T154966471C	F8	NM_000132.3(F8):c.1226A>G:p.Glu409Gly	coding	Pathogenic
X	154966483	A	C	A154966483C	F8	NM_000132.3(F8):c.1214T>G:p.Ile405Ser	coding	Pathogenic
X	154966522	G	A	G154966522A	F8	NM_000132.3(F8):c.1175C>T:p.Ser392Leu	coding	Pathogenic
X	154966522	G	T	G154966522T	F8	NM_000132.3(F8):c.1175C>A:p.Ser392Ter	coding	Pathogenic
X	154966523	A	G	A154966523G	F8	NM_000132.3(F8):c.1174T>C:p.Ser392Pro	coding	Pathogenic
X	154966525	C	T	C154966525T	F8	NM_000132.3(F8):c.1172G>A:p.Arg391His	coding	Pathogenic
X	154966526	G	A	G154966526A	F8	NM_000132.3(F8):c.1171C>T:p.Arg391Cys	coding	Pathogenic
X	154966611	C	T	C154966611T	F8	NM_000132.3(F8):c.1086G>A:p.Ala362=	coding	Benign
X	154966634	G	A	G154966634A	F8	NM_000132.3(F8):c.1063C>T:p.Arg355Ter	coding	Pathogenic
X	154966654	C	G	C154966654G	F8	NM_000132.3(F8):c.1043G>C:p.Cys348Ser	coding	Pathogenic
X	154966664	C	A	C154966664A	F8	NM_000132.3(F8):c.1033G>T:p.Val345Leu	coding	Pathogenic
X	154966671	A	T	A154966671T	F8	NM_000132.3(F8):c.1026T>A:p.Tyr342Ter	coding	Pathogenic
X	154966677	T	G	T154966677G	F8	NM_000132.3(F8):c.1020A>C:p.Glu340Asp	coding	Pathogenic
X	154966714	C	T	C154966714T	F8	NM_000132.3(F8):c.1010-27G>A	noncoding	Benign
X	154969351	T	C	T154969351C	F8	NM_000132.4(F8):c.989A>G:p.His330Arg	coding	Benign
X	154969354	C	T	C154969354T	F8	NM_000132.3(F8):c.986G>A:p.Cys329Tyr	coding	Pathogenic
X	154969355	A	G	A154969355G	F8	NM_000132.3(F8):c.985T>C:p.Cys329Arg	coding	Pathogenic
X	154969360	A	G	A154969360G	F8	NM_000132.3(F8):c.980T>C:p.Leu327Pro	coding	Pathogenic
X	154969361	G	C	G154969361C	F8	NM_000132.3(F8):c.979C>G:p.Leu327Val	coding	Pathogenic
X	154969400	T	C	T154969400C	F8	NM_000132.3(F8):c.940A>G:p.Thr314Ala	coding	Pathogenic
X	154969405	A	G	A154969405G	F8	NM_000132.3(F8):c.935T>C:p.Phe312Ser	coding	Pathogenic
X	154969417	G	A	G154969417A	F8	NM_000132.3(F8):c.923C>T:p.Ser308Leu	coding	Pathogenic
X	154969438	C	A	C154969438A	F8	NM_000132.3(F8):c.902G>T:p.Arg301Leu	coding	Pathogenic
X	154969438	C	T	C154969438T	F8	NM_000132.3(F8):c.902G>A:p.Arg301His	coding	Pathogenic
X	154969444	T	A	T154969444A	F8	NM_000132.3(F8):c.896A>T:p.Asn299Ile	coding	Pathogenic
X	154969459	G	A	G154969459A	F8	NM_000132.3(F8):c.881C>T:p.Thr294Ile	coding	Pathogenic
X	154969468	T	C	T154969468C	F8	NM_000132.3(F8):c.872A>G:p.Glu291Gly	coding	Pathogenic
X	154969486	A	C	A154969486C	F8	NM_000132.3(F8):c.854T>G:p.Val285Gly	coding	Pathogenic
X	154969508	C	T	C154969508T	F8	NM_000132.3(F8):c.832G>A:p.Gly278Arg	coding	Pathogenic
X	154969518	C	T	C154969518T	F8	NM_000132.3(F8):c.822G>A:p.Trp274Ter	coding	Pathogenic
X	154969543	C	T	C154969543T	F8	NM_000132.3(F8):c.797G>A:p.Gly266Glu	coding	Pathogenic
X	154969553	C	G	C154969553G	F8	NM_000132.4(F8):c.788-1G>C	coding	Pathogenic
X	154984708	A	T	A154984708T	F8	NM_000132.3(F8):c.766T>A:p.Tyr256Asn	coding	Pathogenic
X	154987237	C	A	C154987237A	F8	NM_000132.3(F8):c.670G>T:p.Gly224Trp	coding	Pathogenic
X	154987242	T	A	T154987242A	F8	NM_000132.3(F8):c.665A>T:p.Asp222Val	coding	Pathogenic
X	154992945	A	C	A154992945C	F8	NM_000132.3(F8):c.592T>G:p.Cys198Gly	coding	Pathogenic
X	154992962	A	G	A154992962G	F8	NM_000132.3(F8):c.575T>C:p.Ile192Thr	coding	Pathogenic
X	154992971	G	A	G154992971A	F8	NM_000132.3(F8):c.566C>T:p.Ser189Leu	coding	Pathogenic
X	154992983	T	G	T154992983G	F8	NM_000132.3(F8):c.554A>C:p.Lys185Thr	coding	Pathogenic
X	154992996	C	T	C154992996T	F8	NM_000132.3(F8):c.541G>A:p.Val181Met	coding	Pathogenic
X	154993044	G	A	G154993044A	F8	NM_000132.3(F8):c.493C>T:p.Pro165Ser	coding	Pathogenic
X	154993046	C	A	C154993046A	F8	NM_000132.3(F8):c.491G>T:p.Gly164Val	coding	Pathogenic
X	154993127	G	A	G154993127A	F8	NM_000132.3(F8):c.410C>T:p.Thr137Ile	coding	Pathogenic
X	154993133	T	C	T154993133C	F8	NM_000132.3(F8):c.404A>G:p.Asp135Gly	coding	Pathogenic
X	154993139	T	C	T154993139C	F8	NM_000132.3(F8):c.398A>G:p.Tyr133Cys	coding	Pathogenic
X	154993141	T	G	T154993141G	F8	NM_000132.3(F8):c.396A>C:p.Glu132Asp	coding	Pathogenic
X	154993157	G	A	G154993157A	F8	NM_000132.3(F8):c.389-9C>T	noncoding	Benign/Likely_benign
X	154996973	C	G	C154996973G	F8	NM_000132.3(F8):c.388G>C:p.Gly130Arg	coding	Pathogenic
X	154997011	A	C	A154997011C	F8	NM_000132.3(F8):c.350T>G:p.Leu117Arg	coding	Pathogenic
X	154997033	T	C	T154997033C	F8	NM_000132.3(F8):c.328A>G:p.Met110Val	coding	Pathogenic
X	154997038	T	G	T154997038G	F8	NM_000132.3(F8):c.323A>C:p.Lys108Thr	coding	Pathogenic
X	154997050	A	T	A154997050T	F8	NM_000132.3(F8):c.311T>A:p.Val104Asp	coding	Pathogenic
X	154997059	T	C	T154997059C	F8	NM_000132.3(F8):c.302A>G:p.Asp101Gly	coding	Pathogenic
X	154997065	A	T	A154997065T	F8	NM_000132.3(F8):c.296T>A:p.Val99Asp	coding	Pathogenic
X	154997086	C	A	C154997086A	F8	NM_000132.3(F8):c.275G>T:p.Gly92Val	coding	Pathogenic
X	154997095	C	T	C154997095T	F8	NM_000132.3(F8):c.266G>A:p.Gly89Asp	coding	Pathogenic
X	154997114	C	T	C154997114T	F8	NM_000132.3(F8):c.266-19G>A	noncoding	Benign
X	155022432	C	A	C155022432A	F8	NM_000132.3(F8):c.121G>T:p.Gly41Cys	coding	Pathogenic
X	155022449	T	C	T155022449C	F8	NM_000132.3(F8):c.104A>G:p.Tyr35Cys	coding	Pathogenic
X	155022451	G	A	G155022451A	F8	NM_000132.3(F8):c.102C>T:p.Asp34=	coding	Benign/Likely_benign
X	155022464	T	A	T155022464A	F8	NM_000132.3(F8):c.89A>T:p.Glu30Val	coding	Pathogenic
X	155022476	A	C	A155022476C	F8	NM_000132.3(F8):c.77T>G:p.Leu26Arg	coding	Pathogenic
X	155022510	G	A	G155022510A	F8	NM_000132.3(F8):c.43C>T:p.Arg15Ter	coding	Pathogenic
X	155116702	A	G	A155116702G	BRCC3	NM_024332.3(BRCC3):c.756-9A>G	noncoding	Benign
X	155220227	A	C	A155220227C	VBP1	NM_003372.7(VBP1):c.138A>C:p.Ala46=	coding	Benign
X	155258858	T	A	T155258858A	RAB39B	NM_171998.4(RAB39B):c.*1945A>T	noncoding	Benign
X	155258990	G	T	G155258990T	RAB39B	NM_171998.4(RAB39B):c.*1813C>A	noncoding	Benign
X	155259223	G	C	G155259223C	RAB39B	NM_171998.4(RAB39B):c.*1580C>G	noncoding	Benign
X	155259456	G	A	G155259456A	RAB39B	NM_171998.4(RAB39B):c.*1347C>T	noncoding	Benign
X	155259724	T	G	T155259724G	RAB39B	NM_171998.4(RAB39B):c.*1079A>C	noncoding	Benign
X	155259763	G	A	G155259763A	RAB39B	NM_171998.4(RAB39B):c.*1040C>T	noncoding	Benign
X	155259797	T	C	T155259797C	RAB39B	NM_171998.4(RAB39B):c.*1006A>G	noncoding	Benign
X	155260521	C	A	C155260521A	RAB39B	NM_171998.4(RAB39B):c.*282G>T	noncoding	Benign
X	155260871	C	T	C155260871T	RAB39B	NM_171998.4(RAB39B):c.574G>A:p.Gly192Arg	coding	Pathogenic
X	155260886	C	A	C155260886A	RAB39B	NM_171998.4(RAB39B):c.559G>T:p.Glu187Ter	coding	Pathogenic
X	155260902	T	C	T155260902C	RAB39B	NM_171998.4(RAB39B):c.543A>G:p.Thr181=	coding	Benign/Likely_benign
X	155260942	G	T	G155260942T	RAB39B	NM_171998.4(RAB39B):c.503C>A:p.Thr168Lys	coding	Pathogenic
X	155264073	C	T	C155264073T	RAB39B	NM_171998.4(RAB39B):c.215+1G>A	noncoding	Pathogenic
X	155264163	C	A	C155264163A	RAB39B	NM_171998.4(RAB39B):c.126G>T:p.Gly42=	coding	Benign/Likely_benign
X	155264268	G	T	G155264268T	RAB39B	NM_171998.4(RAB39B):c.21C>A:p.Tyr7Ter	coding	Pathogenic
X	155264287	A	G	A155264287G	RAB39B	NM_171998.4(RAB39B):c.2T>C:p.Met1Thr	coding	Pathogenic
X	155279253	G	C	G155279253C	CLIC2	NM_001289.6(CLIC2):c.478C>G:p.Pro160Ala	coding	Benign/Likely_benign
X	155280059	G	C	G155280059C	CLIC2	NM_001289.6(CLIC2):c.303C>G:p.His101Gln	coding	Pathogenic
X	155334361	G	A	G155334361A	CLIC2	NM_001289.6(CLIC2):c.57+10C>T	noncoding	Benign/Likely_benign
X	155514051	G	A	G155514051A	TMLHE	NM_018196.4(TMLHE):c.573C>T:p.Phe191=	coding	Benign
X	155514267	T	C	T155514267C	TMLHE	NM_018196.4(TMLHE):c.359-2A>G	noncoding	Pathogenic
X	155773979	A	G	A155773979G	SPRY3	NM_005840.2(SPRY3):c.108A>G:p.Lys36=	coding	Benign
X	155898234	C	G	C155898234G	VAMP7	NM_005638.6(VAMP7):c.327C>G:p.Val109=	coding	Benign
X	155900534	T	C	T155900534C	VAMP7	NM_005638.6(VAMP7):c.380T>C:p.Met127Thr	coding	Benign
Y	2488738	T	G	T2488738G	ZBED1	NM_001171136.2(ZBED1):c.1982A>C:p.Asp661Ala	coding	Benign
Y	2488954	T	C	T2488954C	ZBED1	NM_001171136.2(ZBED1):c.1766A>G:p.Lys589Arg	coding	Benign
Y	2489148	G	A	G2489148A	ZBED1	NM_001171136.2(ZBED1):c.1572C>T:p.Pro524=	coding	Benign
Y	2489805	G	T	G2489805T	ZBED1	NM_001171136.2(ZBED1):c.915C>A:p.Leu305=	coding	Benign
Y	2489886	C	T	C2489886T	ZBED1	NM_001171136.2(ZBED1):c.834G>A:p.Ala278=	coding	Benign
Y	2490504	G	A	G2490504A	ZBED1	NM_001171136.2(ZBED1):c.216C>T:p.Pro72=	coding	Benign
Y	2490552	G	A	G2490552A	ZBED1	NM_001171136.2(ZBED1):c.168C>T:p.Tyr56=	coding	Benign
Y	2490618	G	A	G2490618A	ZBED1	NM_001171136.2(ZBED1):c.102C>T:p.Asn34=	coding	Benign
Y	2787139	G	A	G2787139A	SRY	NM_003140.3(SRY):c.465C>T:p.Ser155=	coding	Benign
Y	2787207	G	A	G2787207A	SRY	NM_003140.3(SRY):c.397C>T:p.Arg133Trp	coding	Pathogenic
Y	2787224	T	A	T2787224A	SRY	NM_003140.3(SRY):c.380A>T:p.Tyr127Phe	coding	Pathogenic
Y	2787224	T	C	T2787224C	SRY	NM_003140.3(SRY):c.380A>G:p.Tyr127Cys	coding	Pathogenic
Y	2787267	C	T	C2787267T	SRY	NM_003140.3(SRY):c.337G>A:p.Ala113Thr	coding	Pathogenic
Y	2787273	G	A	G2787273A	SRY	NM_003140.3(SRY):c.331C>T:p.Gln111Ter	coding	Pathogenic
Y	2787278	A	G	A2787278G	SRY	NM_003140.3(SRY):c.326T>C:p.Phe109Ser	coding	Pathogenic
Y	2787284	C	T	C2787284T	SRY	NM_003140.3(SRY):c.320G>A:p.Trp107Ter	coding	Pathogenic
Y	2787287	T	A	T2787287A	SRY	NM_003140.3(SRY):c.317A>T:p.Lys106Ile	coding	Pathogenic
Y	2787316	G	C	G2787316C	SRY	NM_003140.3(SRY):c.288C>G:p.Tyr96Ter	coding	Pathogenic
Y	2787320	C	T	C2787320T	SRY	NM_003140.3(SRY):c.284G>A:p.Gly95Glu	coding	Pathogenic
Y	2787321	C	G	C2787321G	SRY	NM_003140.3(SRY):c.283G>C:p.Gly95Arg	coding	Pathogenic
Y	2787327	G	A	G2787327A	SRY	NM_003140.3(SRY):c.277C>T:p.Gln93Ter	coding	Pathogenic
Y	2787330	T	A	T2787330A	SRY	NM_003140.3(SRY):c.274A>T:p.Lys92Ter	coding	Pathogenic
Y	2787334	G	C	G2787334C	SRY	NM_003140.3(SRY):c.270C>G:p.Ile90Met	coding	Pathogenic
Y	2787341	G	T	G2787341T	SRY	NM_003140.3(SRY):c.263C>A:p.Ser88Ter	coding	Pathogenic
Y	2787395	C	T	C2787395T	SRY	NM_003140.3(SRY):c.209G>A:p.Trp70Ter	coding	Pathogenic
Y	2787401	A	G	A2787401G	SRY	NM_003140.3(SRY):c.203T>C:p.Ile68Thr	coding	Pathogenic
Y	2787412	C	T	C2787412T	SRY	NM_003140.3(SRY):c.192G>A:p.Met64Ile	coding	Pathogenic
Y	2787426	C	G	C2787426G	SRY	NM_003140.3(SRY):c.178G>C:p.Val60Leu	coding	Pathogenic
Y	2787435	G	A	G2787435A	SRY	NM_003140.3(SRY):c.169C>T:p.Gln57Ter	coding	Pathogenic
Y	2787515	C	A	C2787515A	SRY	NM_003140.3(SRY):c.89G>T:p.Arg30Ile	coding	Pathogenic
Y	2787551	C	T	C2787551T	SRY	NM_003140.3(SRY):c.53G>A:p.Ser18Asn	coding	Pathogenic
Y	2787592	A	T	A2787592T	SRY	NM_003140.3(SRY):c.12T>A:p.Tyr4Ter	coding	Pathogenic
Y	2787600	G	A	G2787600A	SRY	NM_003140.3(SRY):c.4C>T:p.Gln2Ter	coding	Pathogenic
Y	7063898	A	T	A7063898T	TBL1Y	NM_033284.2(TBL1Y):c.206A>T:p.Asp69Val	coding	Pathogenic
Y	7064150	G	C	G7064150C	TBL1Y	NM_033284.2(TBL1Y):c.457+1G>C	coding	Benign
Y	56960499	A	G	A56960499G	SPRY3	NM_005840.2(SPRY3):c.108A>G:p.Lys36=	coding	Benign
Y	57084754	C	G	C57084754G	VAMP7	NM_005638.6(VAMP7):c.327C>G:p.Val109=	coding	Benign
Y	57087054	T	C	T57087054C	VAMP7	NM_005638.6(VAMP7):c.380T>C:p.Met127Thr	coding	Benign
